LOCUS       NM_000014               4610 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens alpha-2-macroglobulin (A2M), transcript variant 1,
            mRNA.
ACCESSION   NM_000014
VERSION     NM_000014.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4610)
  AUTHORS   Akbasheva OE, Mitrofanova DK, Spirina LV, Samoilova YG, Matveeva MV,
            Podchinenova DV and Oleynik OA.
  TITLE     Alpha-2 macroglobulin activity in SARS-CoV-2 induced infection and
            in the post-COVID-19 period
  JOURNAL   Biomed Khim 69 (4), 240-247 (2023)
   PUBMED   37705485
  REMARK    GeneRIF: Alpha-2 macroglobulin activity in SARS-CoV-2 induced
            infection and in the post-COVID-19 period.
REFERENCE   2  (bases 1 to 4610)
  AUTHORS   Jourdi G, Boukhatem I, Barcelona PF, Fleury S, Welman M, Saragovi
            HU, Pasquali S and Lordkipanidze M.
  TITLE     Alpha-2-macroglobulin prevents platelet aggregation induced by
            brain-derived neurotrophic factor
  JOURNAL   Biochem Pharmacol 215, 115701 (2023)
   PUBMED   37487878
  REMARK    GeneRIF: Alpha-2-macroglobulin prevents platelet aggregation induced
            by brain-derived neurotrophic factor.
REFERENCE   3  (bases 1 to 4610)
  AUTHORS   Wang J, Zhang P, Liu M, Huang Z, Yang X, Ding Y, Liu J, Cheng X, Xu
            S, He M, Zhang F, Wang G, Li R and Yang X.
  TITLE     Alpha-2-macroglobulin is involved in the occurrence of early-onset
            pre-eclampsia via its negative impact on uterine spiral artery
            remodeling and placental angiogenesis
  JOURNAL   BMC Med 21 (1), 90 (2023)
   PUBMED   36894970
  REMARK    GeneRIF: Alpha-2-macroglobulin is involved in the occurrence of
            early-onset pre-eclampsia via its negative impact on uterine spiral
            artery remodeling and placental angiogenesis. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 4610)
  AUTHORS   Xu Q, Xu H and Li S.
  TITLE     Alpha-2-Macroglobulin (A2M) and Dopamine Receptor D2 (DRD2)
            expression analysis and Influence of Separation from Parents in
            Childhood on the Suicide and Self-injury Behavior and Psychological
            Adjustment in Adolescence
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 69 (1), 67-74 (2023)
   PUBMED   37213155
  REMARK    GeneRIF: Alpha-2-Macroglobulin (A2M) and Dopamine Receptor D2 (DRD2)
            expression analysis and Influence of Separation from Parents in
            Childhood on the Suicide and Self-injury Behavior and Psychological
            Adjustment in Adolescence. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4610)
  AUTHORS   Borth W.
  TITLE     Alpha 2-macroglobulin, a multifunctional binding protein with
            targeting characteristics
  JOURNAL   FASEB J 6 (15), 3345-3353 (1992)
   PUBMED   1281457
  REMARK    Review article
REFERENCE   6  (bases 1 to 4610)
  AUTHORS   Matthijs G, Devriendt K, Cassiman JJ, Van den Berghe H and Marynen
            P.
  TITLE     Structure of the human alpha-2 macroglobulin gene and its promotor
  JOURNAL   Biochem Biophys Res Commun 184 (2), 596-603 (1992)
   PUBMED   1374237
REFERENCE   7  (bases 1 to 4610)
  AUTHORS   Poller W, Faber JP, Klobeck G and Olek K.
  TITLE     Cloning of the human alpha 2-macroglobulin gene and detection of
            mutations in two functional domains: the bait region and the
            thiolester site
  JOURNAL   Hum Genet 88 (3), 313-319 (1992)
   PUBMED   1370808
REFERENCE   8  (bases 1 to 4610)
  AUTHORS   Marynen P, Devriendt K, Van den Berghe H and Cassiman JJ.
  TITLE     A genetic polymorphism in a functional domain of human pregnancy
            zone protein: the bait region. Genomic structure of the bait domains
            of human pregnancy zone protein and alpha 2 macroglobulin
  JOURNAL   FEBS Lett 262 (2), 349-352 (1990)
   PUBMED   1692292
  REMARK    Erratum:[FEBS Lett 1990 Jun 18;266(1-2):195]
REFERENCE   9  (bases 1 to 4610)
  AUTHORS   Jensen,P.E. and Sottrup-Jensen,L.
  TITLE     Primary structure of human alpha 2-macroglobulin. Complete disulfide
            bridge assignment and localization of two interchain bridges in the
            dimeric proteinase binding unit
  JOURNAL   J Biol Chem 261 (34), 15863-15869 (1986)
   PUBMED   2430963
REFERENCE   10  (bases 1 to 4610)
  AUTHORS   Nachman,R.L. and Harpel,P.C.
  TITLE     Platelet alpha2-macroglobulin and alpha1-antitrypsin
  JOURNAL   J Biol Chem 251 (15), 4512-4521 (1976)
   PUBMED   59727
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC040071.1, AB209614.2 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000318602.12/ ENSP00000323929.8
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007436.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 30, 2019 this sequence version replaced NM_000014.5.
            Summary: The protein encoded by this gene is a protease inhibitor
            and cytokine transporter. It uses a bait-and-trap mechanism to
            inhibit a broad spectrum of proteases, including trypsin, thrombin
            and collagenase. It can also inhibit inflammatory cytokines, and it
            thus disrupts inflammatory cascades. Mutations in this gene are a
            cause of alpha-2-macroglobulin deficiency. This gene is implicated
            in Alzheimer's disease (AD) due to its ability to mediate the
            clearance and degradation of A-beta, the major component of
            beta-amyloid deposits. A related pseudogene, which is also located
            on the p arm of chromosome 12, has been identified. [provided by
            RefSeq, Nov 2016].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). Both variants 1 and 2 encode isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4610
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..4610
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="alpha-2-macroglobulin"
                     /db_xref="GeneID:2"
                     /db_xref="HGNC:HGNC:7"
                     /db_xref="MIM:103950"
     misc_feature    17..19
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="upstream in-frame stop codon"
     CDS             71..4495
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="isoform a precursor is encoded by transcript variant
                     1; alpha-2-M; C3 and PZP-like alpha-2-macroglobulin
                     domain-containing protein 5"
                     /codon_start=1
                     /product="alpha-2-macroglobulin isoform a precursor"
                     /protein_id="NP_000005.3"
                     /db_xref="CCDS:CCDS44827.1"
                     /db_xref="GeneID:2"
                     /db_xref="HGNC:HGNC:7"
                     /db_xref="MIM:103950"
                     /translation="MGKNKLLHPSLVLLLLVLLPTDASVSGKPQYMVLVPSLLHTETTE
                     KGCVLLSYLNETVTVSASLESVRGNRSLFTDLEAENDVLHCVAFAVPKSSSNEEVMFLT
                     VQVKGPTQEFKKRTTVMVKNEDSLVFVQTDKSIYKPGQTVKFRVVSMDENFHPLNELIP
                     LVYIQDPKGNRIAQWQSFQLEGGLKQFSFPLSSEPFQGSYKVVVQKKSGGRTEHPFTVE
                     EFVLPKFEVQVTVPKIITILEEEMNVSVCGLYTYGKPVPGHVTVSICRKYSDASDCHGE
                     DSQAFCEKFSGQLNSHGCFYQQVKTKVFQLKRKEYEMKLHTEAQIQEEGTVVELTGRQS
                     SEITRTITKLSFVKVDSHFRQGIPFFGQVRLVDGKGVPIPNKVIFIRGNEANYYSNATT
                     DEHGLVQFSINTTNVMGTSLTVRVNYKDRSPCYGYQWVSEEHEEAHHTAYLVFSPSKSF
                     VHLEPMSHELPCGHTQTVQAHYILNGGTLLGLKKLSFYYLIMAKGGIVRTGTHGLLVKQ
                     EDMKGHFSISIPVKSDIAPVARLLIYAVLPTGDVIGDSAKYDVENCLANKVDLSFSPSQ
                     SLPASHAHLRVTAAPQSVCALRAVDQSVLLMKPDAELSASSVYNLLPEKDLTGFPGPLN
                     DQDNEDCINRHNVYINGITYTPVSSTNEKDMYSFLEDMGLKAFTNSKIRKPKMCPQLQQ
                     YEMHGPEGLRVGFYESDVMGRGHARLVHVEEPHTETVRKYFPETWIWDLVVVNSAGVAE
                     VGVTVPDTITEWKAGAFCLSEDAGLGISSTASLRAFQPFFVELTMPYSVIRGEAFTLKA
                     TVLNYLPKCIRVSVQLEASPAFLAVPVEKEQAPHCICANGRQTVSWAVTPKSLGNVNFT
                     VSAEALESQELCGTEVPSVPEHGRKDTVIKPLLVEPEGLEKETTFNSLLCPSGGEVSEE
                     LSLKLPPNVVEESARASVSVLGDILGSAMQNTQNLLQMPYGCGEQNMVLFAPNIYVLDY
                     LNETQQLTPEIKSKAIGYLNTGYQRQLNYKHYDGSYSTFGERYGRNQGNTWLTAFVLKT
                     FAQARAYIFIDEAHITQALIWLSQRQKDNGCFRSSGSLLNNAIKGGVEDEVTLSAYITI
                     ALLEIPLTVTHPVVRNALFCLESAWKTAQEGDHGSHVYTKALLAYAFALAGNQDKRKEV
                     LKSLNEEAVKKDNSVHWERPQKPKAPVGHFYEPQAPSAEVEMTSYVLLAYLTAQPAPTS
                     EDLTSATNIVKWITKQQNAQGGFSSTQDTVVALHALSKYGAATFTRTGKAAQVTIQSSG
                     TFSSKFQVDNNNRLLLQQVSLPELPGEYSMKVTGEGCVYLQTSLKYNILPEKEEFPFAL
                     GVQTLPQTCDEPKAHTSFQISLSVSYTGSRSASNMAIVDVKMVSGFIPLKPTVKMLERS
                     NHVSRTEVSSNHVLIYLDKVSNQTLSLFFTVLQDVPVRDLKPAIVKVYDYYETDEFAIA
                     EYNAPCSKDLGNA"
     sig_peptide     71..139
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     140..4492
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /product="Alpha-2-macroglobulin.
                     /evidence=ECO:0000269|PubMed:6203908. /id=PRO_0000000055"
                     /note="propagated from UniProtKB/Swiss-Prot (P01023.3)"
     misc_feature    233..235
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19139490; propagated from
                     UniProtKB/Swiss-Prot (P01023.3); glycosylation site"
     misc_feature    278..280
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:6203908; propagated from
                     UniProtKB/Swiss-Prot (P01023.3); glycosylation site"
     misc_feature    809..811
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:6203908; propagated from
                     UniProtKB/Swiss-Prot (P01023.3); glycosylation site"
     misc_feature    1256..1258
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:6203908;
                     propagated from UniProtKB/Swiss-Prot (P01023.3);
                     glycosylation site"
     misc_feature    1298..1300
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:6203908; propagated from
                     UniProtKB/Swiss-Prot (P01023.3); glycosylation site"
     misc_feature    2138..2254
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="propagated from UniProtKB/Swiss-Prot (P01023.3);
                     Region: Bait region"
     misc_feature    2180..2197
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="propagated from UniProtKB/Swiss-Prot (P01023.3);
                     Region: Inhibitory"
     misc_feature    2225..2239
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="propagated from UniProtKB/Swiss-Prot (P01023.3);
                     Region: Inhibitory"
     misc_feature    2258..2275
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="propagated from UniProtKB/Swiss-Prot (P01023.3);
                     Region: Inhibitory"
     misc_feature    2675..2677
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P01023.3); glycosylation site"
     misc_feature    3041..3043
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:6203908; propagated from
                     UniProtKB/Swiss-Prot (P01023.3); glycosylation site"
     misc_feature    4340..4342
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P01023.3); glycosylation site"
     regulatory      4585..4590
                     /regulatory_class="polyA_signal_sequence"
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="hexamer: AATAAA"
     polyA_site      4610
                     /gene="A2M"
                     /gene_synonym="A2MD; CPAMD5; FWP007; S863-7"
                     /note="major polyA site"
ORIGIN
        1 gggaccagat ggattgtagg gagtagggta caatacagtc tgttctcctc cagctccttc
       61 tttctgcaac atggggaaga acaaactcct tcatccaagt ctggttcttc tcctcttggt
      121 cctcctgccc acagacgcct cagtctctgg aaaaccgcag tatatggttc tggtcccctc
      181 cctgctccac actgagacca ctgagaaggg ctgtgtcctt ctgagctacc tgaatgagac
      241 agtgactgta agtgcttcct tggagtctgt caggggaaac aggagcctct tcactgacct
      301 ggaggcggag aatgacgtac tccactgtgt cgccttcgct gtcccaaagt cttcatccaa
      361 tgaggaggta atgttcctca ctgtccaagt gaaaggacca acccaagaat ttaagaagcg
      421 gaccacagtg atggttaaga acgaggacag tctggtcttt gtccagacag acaaatcaat
      481 ctacaaacca gggcagacag tgaaatttcg tgttgtctcc atggatgaaa actttcaccc
      541 cctgaatgag ttgattccac tagtatacat tcaggatccc aaaggaaatc gcatcgcaca
      601 atggcagagt ttccagttag agggtggcct caagcaattt tcttttcccc tctcatcaga
      661 gcccttccag ggctcctaca aggtggtggt acagaagaaa tcaggtggaa ggacagagca
      721 ccctttcacc gtggaggaat ttgttcttcc caagtttgaa gtacaagtaa cagtgccaaa
      781 gataatcacc atcttggaag aagagatgaa tgtatcagtg tgtggcctat acacatatgg
      841 gaagcctgtc cctggacatg tgactgtgag catttgcaga aagtatagtg acgcttccga
      901 ctgccacggt gaagattcac aggctttctg tgagaaattc agtggacagc taaacagcca
      961 tggctgcttc tatcagcaag taaaaaccaa ggtcttccag ctgaagagga aggagtatga
     1021 aatgaaactt cacactgagg cccagatcca agaagaagga acagtggtgg aattgactgg
     1081 aaggcagtcc agtgaaatca caagaaccat aaccaaactc tcatttgtga aagtggactc
     1141 acactttcga cagggaattc ccttctttgg gcaggtgcgc ctagtagatg ggaaaggcgt
     1201 ccctatacca aataaagtca tattcatcag aggaaatgaa gcaaactatt actccaatgc
     1261 taccacggat gagcatggcc ttgtacagtt ctctatcaac accaccaatg ttatgggtac
     1321 ctctcttact gttagggtca attacaagga tcgtagtccc tgttacggct accagtgggt
     1381 gtcagaagaa cacgaagagg cacatcacac tgcttatctt gtgttctccc caagcaagag
     1441 ctttgtccac cttgagccca tgtctcatga actaccctgt ggccatactc agacagtcca
     1501 ggcacattat attctgaatg gaggcaccct gctggggctg aagaagctct ccttctatta
     1561 tctgataatg gcaaagggag gcattgtccg aactgggact catggactgc ttgtgaagca
     1621 ggaagacatg aagggccatt tttccatctc aatccctgtg aagtcagaca ttgctcctgt
     1681 cgctcggttg ctcatctatg ctgttttacc taccggggac gtgattgggg attctgcaaa
     1741 atatgatgtt gaaaattgtc tggccaacaa ggtggatttg agcttcagcc catcacaaag
     1801 tctcccagcc tcacacgccc acctgcgagt cacagcggct cctcagtccg tctgcgccct
     1861 ccgtgctgtg gaccaaagcg tgctgctcat gaagcctgat gctgagctct cggcgtcctc
     1921 ggtttacaac ctgctaccag aaaaggacct cactggcttc cctgggcctt tgaatgacca
     1981 ggacaatgaa gactgcatca atcgtcataa tgtctatatt aatggaatca catatactcc
     2041 agtatcaagt acaaatgaaa aggatatgta cagcttccta gaggacatgg gcttaaaggc
     2101 attcaccaac tcaaagattc gtaaacccaa aatgtgtcca cagcttcaac agtatgaaat
     2161 gcatggacct gaaggtctac gtgtaggttt ttatgagtca gatgtaatgg gaagaggcca
     2221 tgcacgcctg gtgcatgttg aagagcctca cacggagacc gtacgaaagt acttccctga
     2281 gacatggatc tgggatttgg tggtggtaaa ctcagcaggt gtggctgagg taggagtaac
     2341 agtccctgac accatcaccg agtggaaggc aggggccttc tgcctgtctg aagatgctgg
     2401 acttggtatc tcttccactg cctctctccg agccttccag cccttctttg tggagctcac
     2461 aatgccttac tctgtgattc gtggagaggc cttcacactc aaggccacgg tcctaaacta
     2521 ccttcccaaa tgcatccggg tcagtgtgca gctggaagcc tctcccgcct tcctagctgt
     2581 cccagtggag aaggaacaag cgcctcactg catctgtgca aacgggcggc aaactgtgtc
     2641 ctgggcagta accccaaagt cattaggaaa tgtgaatttc actgtgagcg cagaggcact
     2701 agagtctcaa gagctgtgtg ggactgaggt gccttcagtt cctgaacacg gaaggaaaga
     2761 cacagtcatc aagcctctgt tggttgaacc tgaaggacta gagaaggaaa caacattcaa
     2821 ctccctactt tgtccatcag gtggtgaggt ttctgaagaa ttatccctga aactgccacc
     2881 aaatgtggta gaagaatctg cccgagcttc tgtctcagtt ttgggagaca tattaggctc
     2941 tgccatgcaa aacacacaaa atcttctcca gatgccctat ggctgtggag agcagaatat
     3001 ggtcctcttt gctcctaaca tctatgtact ggattatcta aatgaaacac agcagcttac
     3061 tccagagatc aagtccaagg ccattggcta tctcaacact ggttaccaga gacagttgaa
     3121 ctacaaacac tatgatggct cctacagcac ctttggggag cgatatggca ggaaccaggg
     3181 caacacctgg ctcacagcct ttgttctgaa gacttttgcc caagctcgag cctacatctt
     3241 catcgatgaa gcacacatta cccaagccct catatggctc tcccagaggc agaaggacaa
     3301 tggctgtttc aggagctctg ggtcactgct caacaatgcc ataaagggag gagtagaaga
     3361 tgaagtgacc ctctccgcct atatcaccat cgcccttctg gagattcctc tcacagtcac
     3421 tcaccctgtt gtccgcaatg ccctgttttg cctggagtca gcctggaaga cagcacaaga
     3481 aggggaccat ggcagccatg tatataccaa agcactgctg gcctatgctt ttgccctggc
     3541 aggtaaccag gacaagagga aggaagtact caagtcactt aatgaggaag ctgtgaagaa
     3601 agacaactct gtccattggg agcgccctca gaaacccaag gcaccagtgg ggcattttta
     3661 cgaaccccag gctccctctg ctgaggtgga gatgacatcc tatgtgctcc tcgcttatct
     3721 cacggcccag ccagccccaa cctcggagga cctgacctct gcaaccaaca tcgtgaagtg
     3781 gatcacgaag cagcagaatg cccagggcgg tttctcctcc acccaggaca cagtggtggc
     3841 tctccatgct ctgtccaaat atggagcagc cacatttacc aggactggga aggctgcaca
     3901 ggtgactatc cagtcttcag ggacattttc cagcaaattc caagtggaca acaacaaccg
     3961 cctgttactg cagcaggtct cattgccaga gctgcctggg gaatacagca tgaaagtgac
     4021 aggagaagga tgtgtctacc tccagacatc cttgaaatac aatattctcc cagaaaagga
     4081 agagttcccc tttgctttag gagtgcagac tctgcctcaa acttgtgatg aacccaaagc
     4141 ccacaccagc ttccaaatct ccctaagtgt cagttacaca gggagccgct ctgcctccaa
     4201 catggcgatc gttgatgtga agatggtctc tggcttcatt cccctgaagc caacagtgaa
     4261 aatgcttgaa agatctaacc atgtgagccg gacagaagtc agcagcaacc atgtcttgat
     4321 ttaccttgat aaggtgtcaa atcagacact gagcttgttc ttcacggttc tgcaagatgt
     4381 cccagtaaga gatctgaaac cagccatagt gaaagtctat gattactacg agacggatga
     4441 gtttgcaatt gctgagtaca atgctccttg cagcaaagat cttggaaatg cttgaagacc
     4501 acaaggctga aaagtgcttt gctggagtcc tgttctcaga gctccacaga agacacgtgt
     4561 ttttgtatct ttaaagactt gatgaataaa cactttttct ggtcaatgtc
//
LOCUS       NM_000015               1285 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens N-acetyltransferase 2 (NAT2), mRNA.
ACCESSION   NM_000015
VERSION     NM_000015.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1285)
  AUTHORS   Farasani A.
  TITLE     A case-control study in NAT2 gene polymorphism studies in patients
            diagnosed with acute myeloid leukemia
  JOURNAL   Acta Biochim Pol 70 (3), 503-507 (2023)
   PUBMED   37715989
  REMARK    GeneRIF: A case-control study in NAT2 gene polymorphism studies in
            patients diagnosed with acute myeloid leukemia.
REFERENCE   2  (bases 1 to 1285)
  AUTHORS   Elsalem L, Al Shatnawi A, A Alfaqih M, Alshoh A, Al Demour S,
            Al-Daghmin A, Halalsheh O, Kheirallah K and Ahram M.
  TITLE     Discovery of a novel genetic variant in the N-acetyltransferase2
            (NAT2) gene that is associated with bladder cancer risk
  JOURNAL   Acta Biochim Pol 70 (3), 575-582 (2023)
   PUBMED   37595067
  REMARK    GeneRIF: Discovery of a novel genetic variant in the
            N-acetyltransferase2 (NAT2) gene that is associated with bladder
            cancer risk.
REFERENCE   3  (bases 1 to 1285)
  AUTHORS   Hong KU and Hein DW.
  TITLE     N -acetyltransferase 2 haplotype modifies risks for both
            dyslipidemia and urinary bladder cancer
  JOURNAL   Pharmacogenet Genomics 33 (6), 136-137 (2023)
   PUBMED   37306342
  REMARK    GeneRIF: N -acetyltransferase 2 haplotype modifies risks for both
            dyslipidemia and urinary bladder cancer.
REFERENCE   4  (bases 1 to 1285)
  AUTHORS   Walls KM, Hong KU and Hein DW.
  TITLE     Induction of glucose production by heterocyclic amines is dependent
            on N-acetyltransferase 2 genetic polymorphism in cryopreserved human
            hepatocytes
  JOURNAL   Toxicol Lett 383, 192-195 (2023)
   PUBMED   37423373
  REMARK    GeneRIF: Induction of glucose production by heterocyclic amines is
            dependent on N-acetyltransferase 2 genetic polymorphism in
            cryopreserved human hepatocytes.
REFERENCE   5  (bases 1 to 1285)
  AUTHORS   Vatsis KP, Weber WW, Bell DA, Dupret JM, Evans DA, Grant DM, Hein
            DW, Lin HJ, Meyer UA, Relling MV et al.
  TITLE     Nomenclature for N-acetyltransferases
  JOURNAL   Pharmacogenetics 5 (1), 1-17 (1995)
   PUBMED   7773298
  REMARK    Review article
REFERENCE   6  (bases 1 to 1285)
  AUTHORS   Hickman D, Risch A, Camilleri JP and Sim E.
  TITLE     Genotyping human polymorphic arylamine N-acetyltransferase:
            identification of new slow allotypic variants
  JOURNAL   Pharmacogenetics 2 (5), 217-226 (1992)
   PUBMED   1306121
REFERENCE   7  (bases 1 to 1285)
  AUTHORS   Deguchi T.
  TITLE     Sequences and expression of alleles of polymorphic arylamine
            N-acetyltransferase of human liver
  JOURNAL   J Biol Chem 267 (25), 18140-18147 (1992)
   PUBMED   1381364
REFERENCE   8  (bases 1 to 1285)
  AUTHORS   Grant DM, Blum M and Meyer UA.
  TITLE     Polymorphisms of N-acetyltransferase genes
  JOURNAL   Xenobiotica 22 (9-10), 1073-1081 (1992)
   PUBMED   1441598
REFERENCE   9  (bases 1 to 1285)
  AUTHORS   Blum M, Grant DM, McBride W, Heim M and Meyer UA.
  TITLE     Human arylamine N-acetyltransferase genes: isolation, chromosomal
            localization, and functional expression
  JOURNAL   DNA Cell Biol 9 (3), 193-203 (1990)
   PUBMED   2340091
REFERENCE   10  (bases 1 to 1285)
  AUTHORS   Grant DM, Lottspeich F and Meyer UA.
  TITLE     Evidence for two closely related isozymes of arylamine
            N-acetyltransferase in human liver
  JOURNAL   FEBS Lett 244 (1), 203-207 (1989)
   PUBMED   2924904
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.54927.1,
            SRR5189664.65048.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000286479.4/ ENSP00000286479.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D90042.1, AI460128.1 and
            AC120051.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 20, 2018 this sequence version replaced NM_000015.2.
            Summary: This gene encodes an enzyme that functions to both
            activate and deactivate arylamine and hydrazine drugs and
            carcinogens. Polymorphisms in this gene are responsible for the
            N-acetylation polymorphism in which human populations segregate
            into rapid, intermediate, and slow acetylator phenotypes.
            Polymorphisms in this gene are also associated with higher
            incidences of cancer and drug toxicity. A second polymorphic
            arylamine N-acetyltransferase gene (NAT1), is located near this
            gene (NAT2). [provided by RefSeq, Sep 2019].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1285
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p22"
     gene            1..1285
                     /gene="NAT2"
                     /gene_synonym="AAC2; NAT-2; PNAT"
                     /note="N-acetyltransferase 2"
                     /db_xref="GeneID:10"
                     /db_xref="HGNC:HGNC:7646"
                     /db_xref="MIM:612182"
     CDS             71..943
                     /gene="NAT2"
                     /gene_synonym="AAC2; NAT-2; PNAT"
                     /EC_number="2.3.1.5"
                     /note="N-acetyltransferase 2 (arylamine
                     N-acetyltransferase); N-acetyltransferase type 2; arylamide
                     acetylase 2"
                     /codon_start=1
                     /product="arylamine N-acetyltransferase 2"
                     /protein_id="NP_000006.2"
                     /db_xref="CCDS:CCDS6008.1"
                     /db_xref="GeneID:10"
                     /db_xref="HGNC:HGNC:7646"
                     /db_xref="MIM:612182"
                     /translation="MDIEAYFERIGYKNSRNKLDLETLTDILEHQIRAVPFENLNMHCG
                     QAMELGLEAIFDHIVRRNRGGWCLQVNQLLYWALTTIGFQTTMLGGYFYIPPVNKYSTG
                     MVHLLLQVTIDGRNYIVDAGSGSSSQMWQPLELISGKDQPQVPCIFCLTEERGIWYLDQ
                     IRREQYITNKEFLNSHLLPKKKHQKIYLFTLEPRTIEDFESMNTYLQTSPTSSFITTSF
                     CSLQTPEGVYCLVGFILTYRKFNYKDNTDLVEFKTLTEEEVEEVLRNIFKISLGRNLVP
                     KPGDGSLTI"
     regulatory      1264..1269
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAT2"
                     /gene_synonym="AAC2; NAT-2; PNAT"
                     /note="hexamer: AATAAA"
     polyA_site      1285
                     /gene="NAT2"
                     /gene_synonym="AAC2; NAT-2; PNAT"
                     /note="major polyA site"
ORIGIN
        1 actttattac agaccttgga agcaagagga ttgcattcag cctagttcct ggttgctggc
       61 caaagggatc atggacattg aagcatattt tgaaagaatt ggctataaga actctaggaa
      121 caaattggac ttggaaacat taactgacat tcttgagcac cagatccggg ctgttccctt
      181 tgagaacctt aacatgcatt gtgggcaagc catggagttg ggcttagagg ctatttttga
      241 tcacattgta agaagaaacc ggggtgggtg gtgtctccag gtcaatcaac ttctgtactg
      301 ggctctgacc acaatcggtt ttcagaccac aatgttagga gggtattttt acatccctcc
      361 agttaacaaa tacagcactg gcatggttca ccttctcctg caggtgacca ttgacggcag
      421 gaattacatt gtcgatgctg ggtctggaag ctcctcccag atgtggcagc ctctagaatt
      481 aatttctggg aaggatcagc ctcaggtgcc ttgcattttc tgcttgacag aagagagagg
      541 aatctggtac ctggaccaaa tcaggagaga gcagtatatt acaaacaaag aatttcttaa
      601 ttctcatctc ctgccaaaga agaaacacca aaaaatatac ttatttacgc ttgaacctcg
      661 aacaattgaa gattttgagt ctatgaatac atacctgcag acgtctccaa catcttcatt
      721 tataaccaca tcattttgtt ccttgcagac cccagaaggg gtttactgtt tggtgggctt
      781 catcctcacc tatagaaaat tcaattataa agacaataca gatctggtcg agtttaaaac
      841 tctcactgag gaagaggttg aagaagtgct gagaaatata tttaagattt ccttggggag
      901 aaatctcgtg cccaaacctg gtgatggatc ccttactatt tagaataagg aacaaaataa
      961 acccttgtgt atgtatcacc caactcacta attatcaact tatgtgctat cagatatcct
     1021 ctctaccctc acgttatttt gaagaaaatc ctaaacatca aatactttca tccataaaaa
     1081 tgtcagcatt tattaaaaaa caataacttt ttaaagaaac ataaggacac attttcaaat
     1141 taataaaaat aaaggcattt taaggatggc ctgtgattat cttgggaagc agagtgattc
     1201 atgctagaaa acatttaata ttgatttatt gttgaattca tagtaaattt ttactggtaa
     1261 atgaataaag aatattgtgg aaaaa
//
LOCUS       NM_000016               2261 bp    mRNA    linear   PRI 09-JUL-2023
DEFINITION  Homo sapiens acyl-CoA dehydrogenase medium chain (ACADM), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000016
VERSION     NM_000016.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2261)
  AUTHORS   Xiao M, Xie Z, Liu J, Li X, Zhang Q, Zhang Z and Li D.
  TITLE     [Analysis of clinical characteristics and ACADM gene variants in
            four children with Medium chain acyl-CoA dehydrogenase deficiency]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (7), 787-794 (2023)
   PUBMED   37368378
  REMARK    GeneRIF: [Analysis of clinical characteristics and ACADM gene
            variants in four children with Medium chain acyl-CoA dehydrogenase
            deficiency].
REFERENCE   2  (bases 1 to 2261)
  AUTHORS   Grosse SD, Khoury MJ, Greene CL, Crider KS and Pollitt RJ.
  TITLE     The epidemiology of medium chain acyl-CoA dehydrogenase deficiency:
            an update
  JOURNAL   Genet Med 8 (4), 205-212 (2006)
   PUBMED   16617240
  REMARK    Review article
REFERENCE   3  (bases 1 to 2261)
  AUTHORS   Battaile KP, McBurney M, Van Veldhoven PP and Vockley J.
  TITLE     Human long chain, very long chain and medium chain acyl-CoA
            dehydrogenases are specific for the S-enantiomer of 2-
            methylpentadecanoyl-CoA
  JOURNAL   Biochim Biophys Acta 1390 (3), 333-338 (1998)
   PUBMED   9487154
REFERENCE   4  (bases 1 to 2261)
  AUTHORS   Lee HJ, Wang M, Paschke R, Nandy A, Ghisla S and Kim JJ.
  TITLE     Crystal structures of the wild type and the Glu376Gly/Thr255Glu
            mutant of human medium-chain acyl-CoA dehydrogenase: influence of
            the location of the catalytic base on substrate specificity
  JOURNAL   Biochemistry 35 (38), 12412-12420 (1996)
   PUBMED   8823176
REFERENCE   5  (bases 1 to 2261)
  AUTHORS   Leone TC, Cresci S, Carter ME, Zhang Z, Lala DS, Strauss AW and
            Kelly DP.
  TITLE     The human medium chain Acyl-CoA dehydrogenase gene promoter consists
            of a complex arrangement of nuclear receptor response elements and
            Sp1 binding sites
  JOURNAL   J Biol Chem 270 (27), 16308-16314 (1995)
   PUBMED   7608198
  REMARK    Erratum:[J Biol Chem. 1995 Oct 13;270(41):24622. PMID: 7592684]
REFERENCE   6  (bases 1 to 2261)
  AUTHORS   Merritt,J.L. 2nd and Chang,I.J.
  TITLE     Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301597
REFERENCE   7  (bases 1 to 2261)
  AUTHORS   Zhang ZF, Kelly DP, Kim JJ, Zhou YQ, Ogden ML, Whelan AJ and Strauss
            AW.
  TITLE     Structural organization and regulatory regions of the human
            medium-chain acyl-CoA dehydrogenase gene
  JOURNAL   Biochemistry 31 (1), 81-89 (1992)
   PUBMED   1731887
REFERENCE   8  (bases 1 to 2261)
  AUTHORS   Tanaka K, Yokota I, Coates PM, Strauss AW, Kelly DP, Zhang Z,
            Gregersen N, Andresen BS, Matsubara Y, Curtis D et al.
  TITLE     Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene
  JOURNAL   Hum Mutat 1 (4), 271-279 (1992)
   PUBMED   1363805
  REMARK    Review article
REFERENCE   9  (bases 1 to 2261)
  AUTHORS   Kelly,D.P., Kim,J.J., Billadello,J.J., Hainline,B.E., Chu,T.W. and
            Strauss,A.W.
  TITLE     Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and
            its expression in enzyme-deficient human tissue
  JOURNAL   Proc Natl Acad Sci U S A 84 (12), 4068-4072 (1987)
   PUBMED   3035565
REFERENCE   10  (bases 1 to 2261)
  AUTHORS   Matsubara,Y., Kraus,J.P., Yang-Feng,T.L., Francke,U., Rosenberg,L.E.
            and Tanaka,K.
  TITLE     Molecular cloning of cDNAs encoding rat and human medium-chain
            acyl-CoA dehydrogenase and assignment of the gene to human
            chromosome 1
  JOURNAL   Proc Natl Acad Sci U S A 83 (17), 6543-6547 (1986)
   PUBMED   3462713
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HM005320.1, BC005377.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000370841.9/ ENSP00000359878.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL357314.11 and BC005377.1.
            On Dec 4, 2019 this sequence version replaced NM_000016.5.
            Summary: This gene encodes the medium-chain specific (C4 to C12
            straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer
            enzyme catalyzes the initial step of the mitochondrial fatty acid
            beta-oxidation pathway. Defects in this gene cause medium-chain
            acyl-CoA dehydrogenase deficiency, a disease characterized by
            hepatic dysfunction, fasting hypoglycemia, and encephalopathy,
            which can result in infantile death. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes isoform a.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2261
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     gene            1..2261
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="acyl-CoA dehydrogenase medium chain"
                     /db_xref="GeneID:34"
                     /db_xref="HGNC:HGNC:89"
                     /db_xref="MIM:607008"
     CDS             80..1345
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /EC_number="1.3.8.7"
                     /note="isoform a precursor is encoded by transcript variant
                     1; acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight
                     chain; medium-chain specific acyl-CoA dehydrogenase,
                     mitochondrial; testicular tissue protein Li 7; medium-chain
                     acyl-CoA dehydrogenase; acyl-CoA dehydrogenase, C-4 to C-12
                     straight chain"
                     /codon_start=1
                     /product="medium-chain specific acyl-CoA dehydrogenase,
                     mitochondrial isoform a precursor"
                     /protein_id="NP_000007.1"
                     /db_xref="CCDS:CCDS668.1"
                     /db_xref="GeneID:34"
                     /db_xref="HGNC:HGNC:89"
                     /db_xref="MIM:607008"
                     /translation="MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQ
                     KEFQATARKFAREEIIPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFD
                     ACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEP
                     GAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGF
                     IVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTR
                     PVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRA
                     AWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQI
                     YEGTSQIQRLIVAREHIDKYKN"
     transit_peptide 80..154
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="Mitochondrion. /evidence=ECO:0000305|PubMed:8823176;
                     propagated from UniProtKB/Swiss-Prot (P11310.1)"
     mat_peptide     155..1342
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /product="Medium-chain specific acyl-CoA dehydrogenase,
                     mitochondrial. /id=PRO_0000000502"
                     /note="propagated from UniProtKB/Swiss-Prot (P11310.1)"
     misc_feature    284..286
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P45952; propagated from
                     UniProtKB/Swiss-Prot (P11310.1); acetylation site"
     misc_feature    713..715
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P45952; propagated from
                     UniProtKB/Swiss-Prot (P11310.1); acetylation site"
     misc_feature    728..730
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P45952; propagated from
                     UniProtKB/Swiss-Prot (P11310.1); acetylation site"
     misc_feature    854..856
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P45952; propagated from
                     UniProtKB/Swiss-Prot (P11310.1); acetylation site"
     misc_feature    890..892
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P45952; propagated from
                     UniProtKB/Swiss-Prot (P11310.1); acetylation site"
     misc_feature    914..916
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P11310.1); acetylation site"
     misc_feature    980..982
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P11310.1); acetylation site"
     misc_feature    1130..1132
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P45952; propagated from
                     UniProtKB/Swiss-Prot (P11310.1); phosphorylation site"
     regulatory      2053..2058
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="hexamer: AATAAA"
     polyA_site      2079
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="major polyA site"
     regulatory      2243..2248
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
                     /note="hexamer: AATAAT"
     polyA_site      2261
                     /gene="ACADM"
                     /gene_synonym="ACAD1; MCAD; MCADH"
ORIGIN
        1 agaggagtcc cgcgttcggg gagtatgtca aggccgtgac ccgtgtatta ttgtccgagt
       61 ggccggaacg ggagccaaca tggcagcggg gttcgggcga tgctgcaggg tcctgagaag
      121 tatttctcgt tttcattgga gatcacagca tacaaaagcc aatcgacaac gtgaaccagg
      181 attaggattt agttttgagt tcaccgaaca gcagaaagaa tttcaagcta ctgctcgtaa
      241 atttgccaga gaggaaatca tcccagtggc tgcagaatat gataaaactg gtgaatatcc
      301 agtcccccta attagaagag cctgggaact tggtttaatg aacacacaca ttccagagaa
      361 ctgtggaggt cttggacttg gaacttttga tgcttgttta attagtgaag aattggctta
      421 tggatgtaca ggggttcaga ctgctattga aggaaattct ttggggcaaa tgcctattat
      481 tattgctgga aatgatcaac aaaagaagaa gtatttgggg agaatgactg aggagccatt
      541 gatgtgtgct tattgtgtaa cagaacctgg agcaggctct gatgtagctg gtataaagac
      601 caaagcagaa aagaaaggag atgagtatat tattaatggt cagaagatgt ggataaccaa
      661 cggaggaaaa gctaattggt attttttatt ggcacgttct gatccagatc ctaaagctcc
      721 tgctaataaa gcctttactg gattcattgt ggaagcagat accccaggaa ttcagattgg
      781 gagaaaggaa ttaaacatgg gccagcgatg ttcagatact agaggaattg tcttcgaaga
      841 tgtgaaagtg cctaaagaaa atgttttaat tggtgacgga gctggtttca aagttgcaat
      901 gggagctttt gataaaacca gacctgtagt agctgctggt gctgttggat tagcacaaag
      961 agctttggat gaagctacca agtatgccct ggaaaggaaa actttcggaa agctacttgt
     1021 agagcaccaa gcaatatcat ttatgctggc tgaaatggca atgaaagttg aactagctag
     1081 aatgagttac cagagagcag cttgggaggt tgattctggt cgtcgaaata cctattatgc
     1141 ttctattgca aaggcatttg ctggagatat tgcaaatcag ttagctactg atgctgtgca
     1201 gatacttgga ggcaatggat ttaatacaga atatcctgta gaaaaactaa tgagggatgc
     1261 caaaatctat cagatttatg aaggtacttc acaaattcaa agacttattg tagcccgtga
     1321 acacattgac aagtacaaaa attaaaaaaa ttactgtaga aatattgaat aactagaaca
     1381 caagccactg tttcagctcc agaaaaaaga aagggcttta acgttttttc cagtgaaaac
     1441 aaatcctctt atattaaatc taagcaactg cttattatag tagtttatac ttttgcttaa
     1501 ctctgttatg tctcttaagc aggtttggtt tttattaaaa tgatgtgttt tctttagtac
     1561 cactttactt gaattacatt aacctagaaa actacatagg ttattttgat ctcttaagat
     1621 taatgtagca gaaatttctt ggaattttat ttttgtaatg acagaaaagt gggcttagaa
     1681 agtattcaag atgttacaaa atttacattt agaaaatatt gtagtatttg aatactgtca
     1741 acttgacagt aactttgtag acttaatggt attattaaag ttctttttat tgcagtttgg
     1801 aaagcatttg tgaaactttc tgtttggcac agaaacagtc aaaattttga cattcatatt
     1861 ctcctatttt acagctacaa gaactttctt gaaaatctta tttaattctg agcccatatt
     1921 tcacttacct tatttaaaat aaatcaataa agcttgcctt aaattatttt tatatgactg
     1981 ttggtctcta ggtagccttt ggtctattgt acacaatctc atttcatatg tttgcatttt
     2041 ggcaaagaac ttaataaaat tgttcagtgc ttattatcat atctttctgt attttttcca
     2101 ggaaatttca ttacttcgtg taatagtgta tatttcttgt atttactatg atgaaaaaag
     2161 gtcgttttaa ttttgaattg aataaagtta cctgttcatt ttttattaga tattttaaag
     2221 acttcagaaa atataaatat gaaataattt aagaacccaa a
//
LOCUS       NM_000017               1859 bp    mRNA    linear   PRI 10-APR-2023
DEFINITION  Homo sapiens acyl-CoA dehydrogenase short chain (ACADS), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000017
VERSION     NM_000017.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1859)
  AUTHORS   Zhong X, Li Z, Xu Q, Peng H, Su Y, Le K, Shu Z, Liao Y, Ma Z, Pan X,
            Xu S and Zhou S.
  TITLE     Short-chain acyl-CoA dehydrogenase is a potential target for the
            treatment of vascular remodelling
  JOURNAL   J Hypertens 41 (5), 775-793 (2023)
   PUBMED   36883465
  REMARK    GeneRIF: Short-chain acyl-CoA dehydrogenase is a potential target
            for the treatment of vascular remodelling.
REFERENCE   2  (bases 1 to 1859)
  AUTHORS   Wu Q, Yan T, Chen Y, Chang J, Jiang Y, Zhu D and Wei Y.
  TITLE     Integrated Analysis of Expression and Prognostic Values of Acyl-CoA
            Dehydrogenase short-chain in Colorectal Cancer
  JOURNAL   Int J Med Sci 18 (16), 3631-3643 (2021)
   PUBMED   34790035
  REMARK    GeneRIF: Integrated Analysis of Expression and Prognostic Values of
            Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 1859)
  AUTHORS   Yang C, Shi C, Zhou C, Wan Q, Zhou Y, Chen X, Jin X, Huang C and Xu
            P.
  TITLE     Screening and follow-up results of fatty acid oxidative metabolism
            disorders in 608 818 newborns in Jining, Shandong province
  JOURNAL   Zhejiang Da Xue Xue Bao Yi Xue Ban 50 (4), 472-480 (2021)
   PUBMED   34704412
  REMARK    GeneRIF: Screening and follow-up results of fatty acid oxidative
            metabolism disorders in 608 818 newborns in Jining, Shandong
            province.
REFERENCE   4  (bases 1 to 1859)
  AUTHORS   Yang TP, Shih FF, Hsu MY, Tsai MH, Nfor ON, Chen PH, Ho CC, Lin CC
            and Liaw YP.
  TITLE     The minor C-allele of the rs2014355 variant in ACADS gene is
            associated with exercise-induced increase in HDL cholesterol levels
            in Taiwanese adults
  JOURNAL   Medicine (Baltimore) 100 (1), e23838 (2021)
   PUBMED   33429745
  REMARK    GeneRIF: The minor C-allele of the rs2014355 variant in ACADS gene
            is associated with exercise-induced increase in HDL cholesterol
            levels in Taiwanese adults.
REFERENCE   5  (bases 1 to 1859)
  AUTHORS   Yuan Y, Yang S, Deng D, Chen Y, Zhang C, Zhou R and Su Z.
  TITLE     Effects of genetic variations in Acads gene on the risk of chronic
            obstructive pulmonary disease
  JOURNAL   IUBMB Life 72 (9), 1986-1996 (2020)
   PUBMED   32593204
  REMARK    GeneRIF: Effects of genetic variations in Acads gene on the risk of
            chronic obstructive pulmonary disease.
REFERENCE   6  (bases 1 to 1859)
  AUTHORS   Wolfe,L., Jethva,R., Oglesbee,D. and Vockley,J.
  TITLE     Short-Chain Acyl-CoA Dehydrogenase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   21938826
REFERENCE   7  (bases 1 to 1859)
  AUTHORS   Hochstrasser DF, Frutiger S, Paquet N, Bairoch A, Ravier F, Pasquali
            C, Sanchez JC, Tissot JD, Bjellqvist B, Vargas R et al.
  TITLE     Human liver protein map: a reference database established by
            microsequencing and gel comparison
  JOURNAL   Electrophoresis 13 (12), 992-1001 (1992)
   PUBMED   1286669
REFERENCE   8  (bases 1 to 1859)
  AUTHORS   Naito E, Indo Y and Tanaka K.
  TITLE     Identification of two variant short chain acyl-coenzyme A
            dehydrogenase alleles, each containing a different point mutation in
            a patient with short chain acyl-coenzyme A dehydrogenase deficiency
  JOURNAL   J Clin Invest 85 (5), 1575-1582 (1990)
   PUBMED   1692038
REFERENCE   9  (bases 1 to 1859)
  AUTHORS   Naito E, Ozasa H, Ikeda Y and Tanaka K.
  TITLE     Molecular cloning and nucleotide sequence of complementary DNAs
            encoding human short chain acyl-coenzyme A dehydrogenase and the
            study of the molecular basis of human short chain acyl-coenzyme A
            dehydrogenase deficiency
  JOURNAL   J Clin Invest 83 (5), 1605-1613 (1989)
   PUBMED   2565344
REFERENCE   10  (bases 1 to 1859)
  AUTHORS   Finocchiaro,G., Ito,M. and Tanaka,K.
  TITLE     Purification and properties of short chain acyl-CoA, medium chain
            acyl-CoA, and isovaleryl-CoA dehydrogenases from human liver
  JOURNAL   J Biol Chem 262 (17), 7982-7989 (1987)
   PUBMED   3597357
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC025963.1, SRR3476690.41816.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000242592.9/ ENSP00000242592.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB505221.1, BC025963.1 and
            M26393.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 20, 2018 this sequence version replaced NM_000017.3.
            Summary: This gene encodes a tetrameric mitochondrial flavoprotein,
            which is a member of the acyl-CoA dehydrogenase family. This enzyme
            catalyzes the initial step of the mitochondrial fatty acid
            beta-oxidation pathway. Mutations in this gene have been associated
            with short-chain acyl-CoA dehydrogenase (SCAD) deficiency.
            Alternative splicing results in two variants which encode different
            isoforms. [provided by RefSeq, Oct 2014].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1859
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..1859
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /note="acyl-CoA dehydrogenase short chain"
                     /db_xref="GeneID:35"
                     /db_xref="HGNC:HGNC:90"
                     /db_xref="MIM:606885"
     CDS             61..1299
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /EC_number="1.3.8.1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain;
                     short-chain specific acyl-CoA dehydrogenase, mitochondrial;
                     butyryl-CoA dehydrogenase; unsaturated acyl-CoA reductase;
                     mitochondrial short-chain specific acyl-CoA dehydrogenase;
                     acyl-CoA dehydrogenase, C-2 to C-3 short chain; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="short-chain specific acyl-CoA dehydrogenase,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_000008.1"
                     /db_xref="CCDS:CCDS9207.1"
                     /db_xref="GeneID:35"
                     /db_xref="HGNC:HGNC:90"
                     /db_xref="MIM:606885"
                     /translation="MAAALLARASGPARRALCPRAWRQLHTIYQSVELPETHQMLLQTC
                     RDFAEKELFPIAAQVDKEHLFPAAQVKKMGGLGLLAMDVPEELGGAGLDYLAYAIAMEE
                     ISRGCASTGVIMSVNNSLYLGPILKFGSKEQKQAWVTPFTSGDKIGCFALSEPGNGSDA
                     GAASTTARAEGDSWVLNGTKAWITNAWEASAAVVFASTDRALQNKGISAFLVPMPTPGL
                     TLGKKEDKLGIRGSSTANLIFEDCRIPKDSILGEPGMGFKIAMQTLDMGRIGIASQALG
                     IAQTALDCAVNYAENRMAFGAPLTKLQVIQFKLADMALALESARLLTWRAAMLKDNKKP
                     FIKEAAMAKLAASEAATAISHQAIQILGGMGYVTEMPAERHYRDARITEIYEGTSEIQR
                     LVIAGHLLRSYRS"
     regulatory      1839..1844
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /note="hexamer: AATAAA"
     polyA_site      1859
                     /gene="ACADS"
                     /gene_synonym="ACAD3; SCAD"
                     /note="major polyA site"
ORIGIN
        1 actccggaac agcgcgctcg cagcgggagg tcgcgaagcc tgggactgtg tctgtcgccc
       61 atggccgccg cgctgctcgc ccgggcctcg ggccctgccc gcagagctct ctgtcctagg
      121 gcctggcggc agttacacac catctaccag tctgtggaac tgcccgagac acaccagatg
      181 ttgctccaga catgccggga ctttgccgag aaggagttgt ttcccattgc agcccaggtg
      241 gataaggaac atctcttccc agcggctcag gtgaagaaga tgggcgggct tgggcttctg
      301 gccatggacg tgcccgagga gcttggcggt gctggcctcg attacctggc ctacgccatc
      361 gccatggagg agatcagccg tggctgcgcc tccaccggag tcatcatgag tgtcaacaac
      421 tctctctacc tggggcccat cttgaagttt ggctccaagg agcagaagca ggcgtgggtc
      481 acgcctttca ccagtggtga caaaattggc tgctttgccc tcagcgaacc agggaacggc
      541 agtgatgcag gagctgcgtc caccaccgcc cgggccgagg gcgactcatg ggttctgaat
      601 ggaaccaaag cctggatcac caatgcctgg gaggcttcgg ctgccgtggt ctttgccagc
      661 acggacagag ccctgcaaaa caagggcatc agtgccttcc tggtccccat gccaacgcct
      721 gggctcacgt tggggaagaa agaagacaag ctgggcatcc ggggctcatc cacggccaac
      781 ctcatctttg aggactgtcg catccccaag gacagcatcc tgggggagcc agggatgggc
      841 ttcaagatag ccatgcaaac cctggacatg ggccgcatcg gcatcgcctc ccaggccctg
      901 ggcattgccc agaccgccct cgattgtgct gtgaactacg ctgagaatcg catggccttc
      961 ggggcgcccc tcaccaagct ccaggtcatc cagttcaagt tggcagacat ggccctggcc
     1021 ctggagagtg cccggctgct gacctggcgc gctgccatgc tgaaggataa caagaagcct
     1081 ttcatcaagg aggcagccat ggccaagctg gccgcctcgg aggccgcgac cgccatcagc
     1141 caccaggcca tccagatcct gggcggcatg ggctacgtga cagagatgcc ggcagagcgg
     1201 cactaccgcg acgcccgcat cactgagatc tacgagggca ccagcgaaat ccagcggctg
     1261 gtgatcgccg ggcatctgct caggagctac cggagctgag cccgcggcgg actgccccag
     1321 gactgcggga aggcgcggga gccaggggcc tccaccccaa ccccggctca gagactgggc
     1381 ggcccggcgg gggctccctg gggaccccag atgggctcag tgctgccacc cagatcagat
     1441 cacatgggaa tgaggccctc cgaccattgg cagctccgcc tctgggcctt tccgcctcct
     1501 caccactgtg cctcaagttc ctcatctaag tggccctggc ctcctggggg cggggttgtg
     1561 ggggggctga gcgacactca gggacacctc agttgtcctc ccgcgggccc tggtgccctg
     1621 gcatgaaggc ccagtgcgac aggcccttgg tggggtctgt cttttccttg aggtcagagg
     1681 tcaggagcag ggctggggtc aggatgacga ggcctggggt cctggtgttg ggcaggtggt
     1741 ggggctgggc catggagctg gcccagaggc ccctcagccc tttgtaaagt ctgatgaagg
     1801 caggggtggt gattcatgct gtgtgactga ctgtgggtaa taaacacacc tgtccccca
//
LOCUS       NM_000018               2184 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens acyl-CoA dehydrogenase very long chain (ACADVL),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000018
VERSION     NM_000018.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2184)
  AUTHORS   Hsu CC, Wang JS, Shyu YC, Fu TC, Juan YH, Yuan SS, Wang CH, Yeh CH,
            Liao PC, Wu HY and Hsu PH.
  TITLE     Hypermethylation of ACADVL is involved in the high-intensity
            interval training-associated reduction of cardiac fibrosis in heart
            failure patients
  JOURNAL   J Transl Med 21 (1), 187 (2023)
   PUBMED   36894992
  REMARK    GeneRIF: Hypermethylation of ACADVL is involved in the
            high-intensity interval training-associated reduction of cardiac
            fibrosis in heart failure patients. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2184)
  AUTHORS   D'Annibale OM, Phua YL, Van't Land C, Karunanidhi A, Dorenbaum A,
            Mohsen AW and Vockley J.
  TITLE     Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome
            Proliferator-Activated Receptor delta Agonist Improves Cellular
            Bioenergetics
  JOURNAL   Cells 11 (17), 2635 (2022)
   PUBMED   36078043
  REMARK    GeneRIF: Treatment of VLCAD-Deficient Patient Fibroblasts with
            Peroxisome Proliferator-Activated Receptor delta Agonist Improves
            Cellular Bioenergetics. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2184)
  AUTHORS   Prew MS, Camara CM, Botzanowski T, Moroco JA, Bloch NB, Levy HR, Seo
            HS, Dhe-Paganon S, Bird GH, Herce HD, Gygi MA, Escudero S, Wales TE,
            Engen JR and Walensky LD.
  TITLE     Structural basis for defective membrane targeting of mutant enzyme
            in human VLCAD deficiency
  JOURNAL   Nat Commun 13 (1), 3669 (2022)
   PUBMED   35760926
  REMARK    GeneRIF: Structural basis for defective membrane targeting of mutant
            enzyme in human VLCAD deficiency. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2184)
  AUTHORS   D'Annibale OM, Koppes EA, Sethuraman M, Bloom K, Mohsen AW and
            Vockley J.
  TITLE     Characterization of exonic variants of uncertain significance in
            very long-chain acyl-CoA dehydrogenase identified through newborn
            screening
  JOURNAL   J Inherit Metab Dis 45 (3), 529-540 (2022)
   PUBMED   35218577
  REMARK    GeneRIF: Characterization of exonic variants of uncertain
            significance in very long-chain acyl-CoA dehydrogenase identified
            through newborn screening.
REFERENCE   5  (bases 1 to 2184)
  AUTHORS   Zhu QW, Yu Y, Zhang Y and Wang XH.
  TITLE     VLCAD inhibits the proliferation and invasion of hepatocellular
            cancer cells through regulating PI3K/AKT axis
  JOURNAL   Clin Transl Oncol 24 (5), 864-874 (2022)
   PUBMED   35001339
  REMARK    GeneRIF: VLCAD inhibits the proliferation and invasion of
            hepatocellular cancer cells through regulating PI3K/AKT axis.
REFERENCE   6  (bases 1 to 2184)
  AUTHORS   Strauss AW, Powell CK, Hale DE, Anderson MM, Ahuja A, Brackett JC
            and Sims HF.
  TITLE     Molecular basis of human mitochondrial very-long-chain acyl-CoA
            dehydrogenase deficiency causing cardiomyopathy and sudden death in
            childhood
  JOURNAL   Proc Natl Acad Sci U S A 92 (23), 10496-10500 (1995)
   PUBMED   7479827
REFERENCE   7  (bases 1 to 2184)
  AUTHORS   Aoyama T, Souri M, Ueno I, Kamijo T, Yamaguchi S, Rhead WJ, Tanaka K
            and Hashimoto T.
  TITLE     Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and
            molecular characterization of its deficiency in two patients
  JOURNAL   Am J Hum Genet 57 (2), 273-283 (1995)
   PUBMED   7668252
REFERENCE   8  (bases 1 to 2184)
  AUTHORS   Aoyama T, Souri M, Ushikubo S, Kamijo T, Yamaguchi S, Kelley RI,
            Rhead WJ, Uetake K, Tanaka K and Hashimoto T.
  TITLE     Purification of human very-long-chain acyl-coenzyme A dehydrogenase
            and characterization of its deficiency in seven patients
  JOURNAL   J Clin Invest 95 (6), 2465-2473 (1995)
   PUBMED   7769092
REFERENCE   9  (bases 1 to 2184)
  AUTHORS   Aoyama T, Uchida Y, Kelley RI, Marble M, Hofman K, Tonsgard JH,
            Rhead WJ and Hashimoto T.
  TITLE     A novel disease with deficiency of mitochondrial very-long-chain
            acyl-CoA dehydrogenase
  JOURNAL   Biochem Biophys Res Commun 191 (3), 1369-1372 (1993)
   PUBMED   8466512
REFERENCE   10  (bases 1 to 2184)
  AUTHORS   Leslie,N.D. and Saenz-Ayala,S.
  TITLE     Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301763
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC000399.2, SRR3476690.1110131.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000356839.10/ ENSP00000349297.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC000399.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 20, 2018 this sequence version replaced NM_000018.3.
            Summary: The protein encoded by this gene is targeted to the inner
            mitochondrial membrane where it catalyzes the first step of the
            mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme
            A dehydrogenase is specific to long-chain and very-long-chain fatty
            acids. A deficiency in this gene product reduces myocardial fatty
            acid beta-oxidation and is associated with cardiomyopathy.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2184
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..2184
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="acyl-CoA dehydrogenase very long chain"
                     /db_xref="GeneID:37"
                     /db_xref="HGNC:HGNC:92"
                     /db_xref="MIM:609575"
     CDS             48..2015
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /EC_number="1.3.8.9"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; acyl-Coenzyme A dehydrogenase, very long chain; very
                     long-chain specific acyl-CoA dehydrogenase, mitochondrial"
                     /codon_start=1
                     /product="very long-chain specific acyl-CoA dehydrogenase,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_000009.1"
                     /db_xref="CCDS:CCDS11090.1"
                     /db_xref="GeneID:37"
                     /db_xref="HGNC:HGNC:92"
                     /db_xref="MIM:609575"
                     /translation="MQAARMAASLGRQLLRLGGGSSRLTALLGQPRPGPARRPYAGGAA
                     QLALDKSDSHPSDALTRKKPAKAESKSFAVGMFKGQLTTDQVFPYPSVLNEEQTQFLKE
                     LVEPVSRFFEEVNDPAKNDALEMVEETTWQGLKELGAFGLQVPSELGGVGLCNTQYARL
                     VEIVGMHDLGVGITLGAHQSIGFKGILLFGTKAQKEKYLPKLASGETVAAFCLTEPSSG
                     SDAASIRTSAVPSPCGKYYTLNGSKLWISNGGLADIFTVFAKTPVTDPATGAVKEKITA
                     FVVERGFGGITHGPPEKKMGIKASNTAEVFFDGVRVPSENVLGEVGSGFKVAMHILNNG
                     RFGMAAALAGTMRGIIAKAVDHATNRTQFGEKIHNFGLIQEKLARMVMLQYVTESMAYM
                     VSANMDQGATDFQIEAAISKIFGSEAAWKVTDECIQIMGGMGFMKEPGVERVLRDLRIF
                     RIFEGTNDILRLFVALQGCMDKGKELSGLGSALKNPFGNAGLLLGEAGKQLRRRAGLGS
                     GLSLSGLVHPELSRSGELAVRALEQFATVVEAKLIKHKKGIVNEQFLLQRLADGAIDLY
                     AMVVVLSRASRSLSEGHPTAQHEKMLCDTWCIEAAARIREGMAALQSDPWQQELYRNFK
                     SISKALVERGGVVTSNPLGF"
     transit_peptide 48..167
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="Mitochondrion. /evidence=ECO:0000269|PubMed:7668252,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P49748.1)"
     misc_feature    114..173
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="propagated from UniProtKB/Swiss-Prot (P49748.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     168..2012
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /product="Very long-chain specific acyl-CoA dehydrogenase,
                     mitochondrial. /id=PRO_0000000515"
                     /note="propagated from UniProtKB/Swiss-Prot (P49748.1)"
     misc_feature    168..1493
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="propagated from UniProtKB/Swiss-Prot (P49748.1);
                     Region: Catalytic. /evidence=ECO:0000305|PubMed:18227065"
     misc_feature    198..200
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P50544; propagated from
                     UniProtKB/Swiss-Prot (P49748.1); acetylation site"
     misc_feature    258..260
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P50544; propagated from
                     UniProtKB/Swiss-Prot (P49748.1); acetylation site"
     misc_feature    762..764
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P49748.1); acetylation site"
     misc_feature    873..875
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P50544; propagated from
                     UniProtKB/Swiss-Prot (P49748.1); acetylation site"
     misc_feature    879..881
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P50544; propagated from
                     UniProtKB/Swiss-Prot (P49748.1); acetylation site"
     misc_feature    939..941
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P50544; propagated from
                     UniProtKB/Swiss-Prot (P49748.1); acetylation site"
     misc_feature    1038..1040
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P49748.1); acetylation site"
     misc_feature    1491..1493
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P50544; propagated from
                     UniProtKB/Swiss-Prot (P49748.1); acetylation site"
     misc_feature    1494..1595
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="propagated from UniProtKB/Swiss-Prot (P49748.1);
                     Region: Membrane-anchoring.
                     /evidence=ECO:0000305|PubMed:18227065"
     misc_feature    1596..1598
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49748.1); phosphorylation site"
     misc_feature    1611..1613
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49748.1); phosphorylation site"
     misc_feature    1695..1697
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P50544; propagated from
                     UniProtKB/Swiss-Prot (P49748.1); acetylation site"
     misc_feature    1713..1715
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P50544; propagated from
                     UniProtKB/Swiss-Prot (P49748.1); acetylation site"
     regulatory      2163..2168
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="hexamer: AATAAA"
     polyA_site      2184
                     /gene="ACADVL"
                     /gene_synonym="ACAD6; LCACD; VLCAD"
                     /note="major polyA site"
ORIGIN
        1 agagctgggt cagagctcga gccagcggcg cccggagaga ttcggagatg caggcggctc
       61 ggatggccgc gagcttgggg cggcagctgc tgaggctcgg gggcggaagc tcgcggctca
      121 cggcgctcct ggggcagccc cggcccggcc ctgcccggcg gccctatgcc gggggtgccg
      181 ctcagctggc tctggacaag tcagattccc acccctctga cgctctgacc aggaaaaaac
      241 cggccaaggc ggaatctaag tcctttgctg tgggaatgtt caaaggccag ctcaccacag
      301 atcaggtgtt cccatacccg tccgtgctca acgaagagca gacacagttt cttaaagagc
      361 tggtggagcc tgtgtcccgt ttcttcgagg aagtgaacga tcccgccaag aatgacgctc
      421 tggagatggt ggaggagacc acttggcagg gcctcaagga gctgggggcc tttggtctgc
      481 aagtgcccag tgagctgggt ggtgtgggcc tttgcaacac ccagtacgcc cgtttggtgg
      541 agatcgtggg catgcatgac cttggcgtgg gcattaccct gggggcccat cagagcatcg
      601 gtttcaaagg catcctgctc tttggcacaa aggcccagaa agaaaaatac ctccccaagc
      661 tggcatctgg ggagactgtg gccgctttct gtctaaccga gccctcaagc gggtcagatg
      721 cagcctccat ccgaacctct gctgtgccca gcccctgtgg aaaatactat accctcaatg
      781 gaagcaagct ttggatcagt aatgggggcc tagcagacat cttcacggtc tttgccaaga
      841 caccagttac agatccagcc acaggagccg tgaaggagaa gatcacagct tttgtggtgg
      901 agaggggctt cgggggcatt acccatgggc cccctgagaa gaagatgggc atcaaggctt
      961 caaacacagc agaggtgttc tttgatggag tacgggtgcc atcggagaac gtgctgggtg
     1021 aggttgggag tggcttcaag gttgccatgc acatcctcaa caatggaagg tttggcatgg
     1081 ctgcggccct ggcaggtacc atgagaggca tcattgctaa ggcggtagat catgccacta
     1141 atcgtaccca gtttggggag aaaattcaca actttgggct gatccaggag aagctggcac
     1201 ggatggttat gctgcagtat gtaactgagt ccatggctta catggtgagt gctaacatgg
     1261 accagggagc cacggacttc cagatagagg ccgccatcag caaaatcttt ggctcggagg
     1321 cagcctggaa ggtgacagat gaatgcatcc aaatcatggg gggtatgggc ttcatgaagg
     1381 aacctggagt agagcgtgtg ctccgagatc ttcgcatctt ccggatcttt gaggggacaa
     1441 atgacattct tcggctgttt gtggctctgc agggctgtat ggacaaagga aaggagctct
     1501 ctgggcttgg cagtgctcta aagaatccct ttgggaatgc tggcctcctg ctaggagagg
     1561 caggcaaaca gctgaggcgg cgggcagggc tgggcagcgg cctgagtctc agcggacttg
     1621 tccacccgga gttgagtcgg agtggcgagc tggcagtacg ggctctggag cagtttgcca
     1681 ctgtggtgga ggccaagctg ataaaacaca agaaggggat tgtcaatgaa cagtttctgc
     1741 tgcagcggct ggcagacggg gccatcgacc tctatgccat ggtggtggtt ctctcgaggg
     1801 cctcaagatc cctgagtgag ggccacccca cggcccagca tgagaaaatg ctctgtgaca
     1861 cctggtgtat cgaggctgca gctcggatcc gagagggcat ggccgccctg cagtctgacc
     1921 cctggcagca agagctctac cgcaacttca aaagcatctc caaggccttg gtggagcggg
     1981 gtggtgtggt caccagcaac ccacttggct tctgaatact cccggccagg gcctgtccca
     2041 gttatgtgcc ttccctcaag ccaaagccga agcccctttc cttaaggccc tggtttgtcc
     2101 cgaaggggcc tagtgttccc agcactgtgc ctgctctcaa gagcacttac tgcctcgcaa
     2161 ataataaaaa tttctagcca gtca
//
LOCUS       NM_000019               1537 bp    mRNA    linear   PRI 11-JUN-2023
DEFINITION  Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), transcript
            variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000019
VERSION     NM_000019.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1537)
  AUTHORS   Mao T, Qin F, Zhang M, Li J, Li J and Lai M.
  TITLE     Elevated serum beta-hydroxybutyrate, a circulating ketone
            metabolite, accelerates colorectal cancer proliferation and
            metastasis via ACAT1
  JOURNAL   Oncogene 42 (23), 1889-1899 (2023)
   PUBMED   37185457
  REMARK    GeneRIF: Elevated serum beta-hydroxybutyrate, a circulating ketone
            metabolite, accelerates colorectal cancer proliferation and
            metastasis via ACAT1.
REFERENCE   2  (bases 1 to 1537)
  AUTHORS   Zhang G, Huang R, Zhao H, Xia Y, Huang H, Qian M, Fu Y and Cui Y.
  TITLE     ACAT1-mediated METTL3 acetylation inhibits cell migration and
            invasion in triple negative breast cancer
  JOURNAL   Genes Immun 24 (2), 99-107 (2023)
   PUBMED   36890220
  REMARK    GeneRIF: ACAT1-mediated METTL3 acetylation inhibits cell migration
            and invasion in triple negative breast cancer.
REFERENCE   3  (bases 1 to 1537)
  AUTHORS   Guan J, Jiang X, Guo Y, Zhao W, Li J, Li Y, Cheng M, Fu L, Zhao Y
            and Li Q.
  TITLE     Autophagy inhibition and reactive oxygen species elimination by
            acetyl-CoA acetyltransferase 1 through fused in sarcoma protein to
            promote prostate cancer
  JOURNAL   BMC Cancer 22 (1), 1313 (2022)
   PUBMED   36517760
  REMARK    GeneRIF: Autophagy inhibition and reactive oxygen species
            elimination by acetyl-CoA acetyltransferase 1 through fused in
            sarcoma protein to promote prostate cancer. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 1537)
  AUTHORS   Zhou T, Yang H, Wang H, Luo N, Xia Y and Jiang X.
  TITLE     Association between ACAT1 rs1044925 and increased hypertension risk
            in Tongdao Dong
  JOURNAL   Medicine (Baltimore) 101 (49), e32196 (2022)
   PUBMED   36626481
  REMARK    GeneRIF: Association between ACAT1 rs1044925 and increased
            hypertension risk in Tongdao Dong.
REFERENCE   5  (bases 1 to 1537)
  AUTHORS   Han P, Wu S, Li L, Li D, Zhao J, Zhang H, Wang Y, Zhong X, Zhang Z,
            Li P, Matskova L and Zhou X.
  TITLE     Epigenetic inactivation of ACAT1 promotes epithelial-mesenchymal
            transition of clear cell renal cell carcinoma
  JOURNAL   Genes Genomics 44 (4), 487-497 (2022)
   PUBMED   34985712
  REMARK    GeneRIF: Epigenetic inactivation of ACAT1 promotes
            epithelial-mesenchymal transition of clear cell renal cell
            carcinoma.
REFERENCE   6  (bases 1 to 1537)
  AUTHORS   Fukao T, Yamaguchi S, Orii T, Osumi T and Hashimoto T.
  TITLE     Molecular basis of 3-ketothiolase deficiency: identification of an
            AG to AC substitution at the splice acceptor site of intron 10
            causing exon 11 skipping
  JOURNAL   Biochim Biophys Acta 1139 (3), 184-188 (1992)
   PUBMED   1627655
REFERENCE   7  (bases 1 to 1537)
  AUTHORS   Fukao T, Yamaguchi S, Orii T, Schutgens RB, Osumi T and Hashimoto T.
  TITLE     Identification of three mutant alleles of the gene for mitochondrial
            acetoacetyl-coenzyme A thiolase. A complete analysis of two
            generations of a family with 3-ketothiolase deficiency
  JOURNAL   J Clin Invest 89 (2), 474-479 (1992)
   PUBMED   1346617
REFERENCE   8  (bases 1 to 1537)
  AUTHORS   Masuno M, Kano M, Fukao T, Yamaguchi S, Osumi T, Hashimoto T,
            Takahashi E, Hori T and Orii T.
  TITLE     Chromosome mapping of the human mitochondrial acetoacetyl-coenzyme A
            thiolase gene to 11q22.3----q23.1 by fluorescence in situ
            hybridization
  JOURNAL   Cytogenet Cell Genet 60 (2), 121-122 (1992)
   PUBMED   1351831
REFERENCE   9  (bases 1 to 1537)
  AUTHORS   Kano M, Fukao T, Yamaguchi S, Orii T, Osumi T and Hashimoto T.
  TITLE     Structure and expression of the human mitochondrial acetoacetyl-CoA
            thiolase-encoding gene
  JOURNAL   Gene 109 (2), 285-290 (1991)
   PUBMED   1684944
REFERENCE   10  (bases 1 to 1537)
  AUTHORS   Fukao T, Yamaguchi S, Tomatsu S, Orii T, Frauendienst-Egger G,
            Schrod L, Osumi T and Hashimoto T.
  TITLE     Evidence for a structural mutation (347Ala to Thr) in a German
            family with 3-ketothiolase deficiency
  JOURNAL   Biochem Biophys Res Commun 179 (1), 124-129 (1991)
   PUBMED   1715688
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HM005511.1, D90228.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000265838.9/ ENSP00000265838.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D90228.1 and AW081574.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 8, 2019 this sequence version replaced NM_000019.3.
            Summary: This gene encodes a mitochondrially localized enzyme that
            catalyzes the reversible formation of acetoacetyl-CoA from two
            molecules of acetyl-CoA. Defects in this gene are associated with
            3-ketothiolase deficiency, an inborn error of isoleucine catabolism
            characterized by urinary excretion of 2-methyl-3-hydroxybutyric
            acid, 2-methylacetoacetic acid, tiglylglycine, and butanone.
            [provided by RefSeq, Feb 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1537
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.3"
     gene            1..1537
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="acetyl-CoA acetyltransferase 1"
                     /db_xref="GeneID:38"
                     /db_xref="HGNC:HGNC:93"
                     /db_xref="MIM:607809"
     CDS             41..1324
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /EC_number="2.3.1.9"
                     /note="isoform b precursor is encoded by transcript variant
                     2; acetoacetyl Coenzyme A thiolase; acetyl-Coenzyme A
                     acetyltransferase 1; acetyl-CoA acetyltransferase,
                     mitochondrial; mitochondrial acetoacetyl-CoA thiolase;
                     testicular tissue protein Li 198"
                     /codon_start=1
                     /product="acetyl-CoA acetyltransferase, mitochondrial
                     isoform b precursor"
                     /protein_id="NP_000010.1"
                     /db_xref="CCDS:CCDS8339.1"
                     /db_xref="GeneID:38"
                     /db_xref="HGNC:HGNC:93"
                     /db_xref="MIM:607809"
                     /translation="MAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVIV
                     SATRTPIGSFLGSLSLLPATKLGSIAIQGAIEKAGIPKEEVKEAYMGNVLQGGEGQAPT
                     RQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVM
                     NRGSTPYGGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIARNEQDAYAINSYTRS
                     KAAWEAGKFGNEVIPVTVTVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAA
                     NASTLNDGAAALVLMTADAAKRLNVTPLARIVAFADAAVEPIDFPIAPVYAASMVLKDV
                     GLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLT
                     HALKQGEYGLASICNGGGGASAMLIQKL"
     transit_peptide 41..139
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="Mitochondrion.
                     /evidence=ECO:0000250|UniProtKB:P17764; propagated from
                     UniProtKB/Swiss-Prot (P24752.1)"
     mat_peptide     140..1321
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /product="Acetyl-CoA acetyltransferase, mitochondrial.
                     /id=PRO_0000034085"
                     /note="propagated from UniProtKB/Swiss-Prot (P24752.1)"
     misc_feature    236..238
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8QZT1; propagated from
                     UniProtKB/Swiss-Prot (P24752.1); acetylation site"
     misc_feature    560..562
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P24752.1); acetylation site"
     misc_feature    581..583
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P24752.1); acetylation site"
     misc_feature    608..610
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8QZT1; propagated from
                     UniProtKB/Swiss-Prot (P24752.1); acetylation site"
     misc_feature    644..646
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8QZT1; propagated from
                     UniProtKB/Swiss-Prot (P24752.1); acetylation site"
     misc_feature    707..709
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8QZT1; propagated from
                     UniProtKB/Swiss-Prot (P24752.1); acetylation site"
     misc_feature    728..730
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8QZT1; propagated from
                     UniProtKB/Swiss-Prot (P24752.1); acetylation site"
     misc_feature    791..793
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P24752.1); acetylation site"
     misc_feature    809..811
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8QZT1; propagated from
                     UniProtKB/Swiss-Prot (P24752.1); acetylation site"
     misc_feature    827..829
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P24752.1); acetylation site"
     misc_feature    857..859
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8QZT1; propagated from
                     UniProtKB/Swiss-Prot (P24752.1); acetylation site"
     misc_feature    1052..1054
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8QZT1; propagated from
                     UniProtKB/Swiss-Prot (P24752.1); acetylation site"
     misc_feature    1193..1195
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="Increases nucleophilicity of active site Cys.
                     /evidence=ECO:0000305|PubMed:17371050; propagated from
                     UniProtKB/Swiss-Prot (P24752.1); other site"
     regulatory      1496..1501
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="hexamer: AATAAA"
     polyA_site      1537
                     /gene="ACAT1"
                     /gene_synonym="ACAT; MAT; T2; THIL"
                     /note="major polyA site"
ORIGIN
        1 agtctacgcc tgtggagccg atactcagcc ctctgcgacc atggctgtgc tggcggcact
       61 tctgcgcagc ggcgcccgca gccgcagccc cctgctccgg aggctggtgc aggaaataag
      121 atatgtggaa cggagttatg tatcaaaacc cactttgaag gaagtggtca tagtaagtgc
      181 tacaagaaca cccattggat cttttttagg cagcctttcc ttgctgccag ccactaagct
      241 tggttccatt gcaattcagg gagccattga aaaggcaggg attccaaaag aagaagtgaa
      301 agaagcatac atgggtaatg ttctacaagg aggtgaagga caagctccta caaggcaggc
      361 agtattgggt gcaggcttac ctatttctac tccatgtacc accataaaca aagtttgtgc
      421 ttcaggaatg aaagccatca tgatggcctc tcaaagtctt atgtgtggac atcaggatgt
      481 gatggtggca ggtgggatgg agagcatgtc caatgttcca tatgtaatga acagaggatc
      541 aacaccatat ggtggggtaa agcttgaaga tttgattgta aaagacgggc taactgatgt
      601 ctacaataaa attcatatgg gcagctgtgc tgagaataca gcaaagaagc tgaatattgc
      661 acgaaatgaa caggacgctt atgctattaa ttcttatacc agaagtaaag cagcatggga
      721 agctgggaaa tttggaaatg aagttattcc tgtcacagtt acagtaaaag gtcaaccaga
      781 tgtagtggtg aaagaagatg aagaatataa acgtgttgat tttagcaaag ttccaaagct
      841 gaagacagtt ttccagaaag aaaatggcac agtaacagct gccaatgcca gtacactgaa
      901 tgatggagca gctgctctgg ttctcatgac ggcagatgca gcgaagaggc tcaatgttac
      961 accactggca agaatagtag catttgctga cgctgctgta gaacctattg attttccaat
     1021 tgctcctgta tatgctgcat ctatggttct taaagatgtg ggattgaaaa aagaagatat
     1081 tgcaatgtgg gaagtaaatg aagcctttag tctggttgta ctagcaaaca ttaaaatgtt
     1141 ggagattgat ccccaaaaag tgaatatcaa tggaggagct gtttctctgg gacatccaat
     1201 tgggatgtct ggagccagga ttgttggtca tttgactcat gccttgaagc aaggagaata
     1261 cggtcttgcc agtatttgca atggaggagg aggtgcttct gccatgctaa ttcagaagct
     1321 gtagacaacc tctgctattt aaggagacaa ccctatgtga ccagaaggcc tgctgtaatc
     1381 agtgtgacta ctgtgggtca gcttatattc agataagctg tttcattttt tattattttc
     1441 tatgttaact tttaaaaatc aaaatgatga aatcccaaaa cattttgaaa ttaaaaataa
     1501 atttcttctt ctgctttttt cttggtaacc ttgaaaa
//
LOCUS       NM_000020               4177 bp    mRNA    linear   PRI 16-MAR-2023
DEFINITION  Homo sapiens activin A receptor like type 1 (ACVRL1), transcript
            variant 1, mRNA.
ACCESSION   NM_000020
VERSION     NM_000020.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4177)
  AUTHORS   Sbalchiero A, Abu Hweij Y, Mazza T, Buscarini E, Scotti C, Pagella
            F, Manfredi G, Matti E, Spinozzi G and Olivieri C.
  TITLE     Hereditary hemorrhagic telangiectasia: First demonstration of a
            founder effect in Italy; the ACVRL1 c.289_294del variant originated
            in the country of Bergamo 200 years ago
  JOURNAL   Mol Genet Genomic Med 10 (8), e1972 (2022)
   PUBMED   35620871
  REMARK    GeneRIF: Hereditary hemorrhagic telangiectasia: First demonstration
            of a founder effect in Italy; the ACVRL1 c.289_294del variant
            originated in the country of Bergamo 200 years ago.
REFERENCE   2  (bases 1 to 4177)
  AUTHORS   Kimishima Y, Misaka T, Yokokawa T, Wada K, Ueda K, Sugimoto K,
            Minakawa K, Nakazato K, Ishida T, Oshima M, Koide S, Shide K,
            Shimoda K, Iwama A, Ikeda K and Takeishi Y.
  TITLE     Clonal hematopoiesis with JAK2V617F promotes pulmonary hypertension
            with ALK1 upregulation in lung neutrophils
  JOURNAL   Nat Commun 12 (1), 6177 (2021)
   PUBMED   34702814
  REMARK    GeneRIF: Clonal hematopoiesis with JAK2V617F promotes pulmonary
            hypertension with ALK1 upregulation in lung neutrophils. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 4177)
  AUTHORS   Fu Y, Wang H, Dai H, Zhu Q, Cui CP, Sun X, Li Y, Deng Z, Zhou X, Ge
            Y, Peng Z, Yuan C, Wu B, Yang X, Li R, Liu CH, He F, Wei W and Zhang
            L.
  TITLE     OTULIN allies with LUBAC to govern angiogenesis by editing ALK1
            linear polyubiquitin
  JOURNAL   Mol Cell 81 (15), 3187-3204 (2021)
   PUBMED   34157307
  REMARK    GeneRIF: OTULIN allies with LUBAC to govern angiogenesis by editing
            ALK1 linear polyubiquitin.
REFERENCE   4  (bases 1 to 4177)
  AUTHORS   Major T, Gindele R, Balogh G, Bardossy P and Bereczky Z.
  TITLE     Founder Effects in Hereditary Hemorrhagic Telangiectasia
  JOURNAL   J Clin Med 10 (8), 1682 (2021)
   PUBMED   33919892
  REMARK    Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4177)
  AUTHORS   Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ,
            Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE,
            Jackson CE, Attisano L, Kucherlapati R, Porteous ME and Marchuk DA.
  TITLE     Mutations in the activin receptor-like kinase 1 gene in hereditary
            haemorrhagic telangiectasia type 2
  JOURNAL   Nat Genet 13 (2), 189-195 (1996)
   PUBMED   8640225
REFERENCE   6  (bases 1 to 4177)
  AUTHORS   Johnson DW, Berg JN, Gallione CJ, McAllister KA, Warner JP, Helmbold
            EA, Markel DS, Jackson CE, Porteous ME and Marchuk DA.
  TITLE     A second locus for hereditary hemorrhagic telangiectasia maps to
            chromosome 12
  JOURNAL   Genome Res 5 (1), 21-28 (1995)
   PUBMED   8717052
REFERENCE   7  (bases 1 to 4177)
  AUTHORS   Attisano L, Carcamo J, Ventura F, Weis FM, Massague J and Wrana JL.
  TITLE     Identification of human activin and TGF beta type I receptors that
            form heteromeric kinase complexes with type II receptors
  JOURNAL   Cell 75 (4), 671-680 (1993)
   PUBMED   8242742
REFERENCE   8  (bases 1 to 4177)
  AUTHORS   ten Dijke P, Ichijo H, Franzen P, Schulz P, Saras J, Toyoshima H,
            Heldin CH and Miyazono K.
  TITLE     Activin receptor-like kinases: a novel subclass of cell-surface
            receptors with predicted serine/threonine kinase activity
  JOURNAL   Oncogene 8 (10), 2879-2887 (1993)
   PUBMED   8397373
REFERENCE   9  (bases 1 to 4177)
  AUTHORS   Austin,E.D., Phillips,J.A. III and Loyd,J.E.
  TITLE     Heritable Pulmonary Arterial Hypertension Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301658
REFERENCE   10  (bases 1 to 4177)
  AUTHORS   McDonald,J. and Stevenson,D.A.
  TITLE     Hereditary Hemorrhagic Telangiectasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301525
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3256212.1,
            SRR18074969.2825525.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000388922.9/ ENSP00000373574.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z22533.1, DN999570.1 and
            AC025259.49.
            On Aug 31, 2019 this sequence version replaced NM_000020.2.
            Summary: This gene encodes a type I cell-surface receptor for the
            TGF-beta superfamily of ligands. It shares with other type I
            receptors a high degree of similarity in serine-threonine kinase
            subdomains, a glycine- and serine-rich region (called the GS
            domain) preceding the kinase domain, and a short C-terminal tail.
            The encoded protein, sometimes termed ALK1, shares similar domain
            structures with other closely related ALK or activin receptor-like
            kinase proteins that form a subfamily of receptor serine/threonine
            kinases. Mutations in this gene are associated with hemorrhagic
            telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4177
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..4177
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3;
                     TSR-I"
                     /note="activin A receptor like type 1"
                     /db_xref="GeneID:94"
                     /db_xref="HGNC:HGNC:175"
                     /db_xref="MIM:601284"
     CDS             198..1709
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3;
                     TSR-I"
                     /EC_number="2.7.11.30"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; serine/threonine-protein kinase receptor R3; activin A
                     receptor type IL; TGF-B superfamily receptor type I;
                     activin A receptor, type II-like kinase 1; activin A
                     receptor type II-like 1"
                     /codon_start=1
                     /product="serine/threonine-protein kinase receptor R3
                     isoform 1 precursor"
                     /protein_id="NP_000011.2"
                     /db_xref="CCDS:CCDS31804.1"
                     /db_xref="GeneID:94"
                     /db_xref="HGNC:HGNC:175"
                     /db_xref="MIM:601284"
                     /translation="MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPT
                     CRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGRPTEFVNHYCCDSHLCNHNVSLVLE
                     ATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGESSLI
                     LKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWH
                     GESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHE
                     HGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKS
                     NLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIW
                     AFGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAAD
                     PVLSGLAQMMRECWYPNPSARLTALRIKKTLQKISNSPEKPKVIQ"
     sig_peptide     198..260
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3;
                     TSR-I"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     261..1706
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3;
                     TSR-I"
                     /product="Serine/threonine-protein kinase receptor R3.
                     /id=PRO_0000024420"
                     /note="propagated from UniProtKB/Swiss-Prot (P37023.2)"
     misc_feature    414..425
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3;
                     TSR-I"
                     /note="propagated from UniProtKB/Swiss-Prot (P37023.2);
                     Region: Mediates specificity for BMP ligand"
     misc_feature    489..491
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3;
                     TSR-I"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P37023.2); glycosylation site"
     misc_feature    552..620
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3;
                     TSR-I"
                     /note="propagated from UniProtKB/Swiss-Prot (P37023.2);
                     transmembrane region"
     misc_feature    660..662
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3;
                     TSR-I"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61288; propagated from
                     UniProtKB/Swiss-Prot (P37023.2); phosphorylation site"
     misc_feature    675..677
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3;
                     TSR-I"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61288; propagated from
                     UniProtKB/Swiss-Prot (P37023.2); phosphorylation site"
     misc_feature    678..680
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3;
                     TSR-I"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61288; propagated from
                     UniProtKB/Swiss-Prot (P37023.2); phosphorylation site"
     regulatory      1864..1869
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3;
                     TSR-I"
                     /note="hexamer: AATACA"
     polyA_site      1886
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3;
                     TSR-I"
     regulatory      4155..4160
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3;
                     TSR-I"
                     /note="hexamer: AATAAA"
     polyA_site      4177
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3;
                     TSR-I"
                     /note="major polyA site"
ORIGIN
        1 cccagtcccg ggaggctgcc gcgccagctg cgccgagcga gcccctcccc ggctccagcc
       61 cggtccgggg ccgcgcccgg accccagccc gccgtccagc gctggcggtg caactgcggc
      121 cgcgcggtgg aggggaggtg gccccggtcc gccgaaggct agcgccccgc cacccgcaga
      181 gcgggcccag agggaccatg accttgggct cccccaggaa aggccttctg atgctgctga
      241 tggccttggt gacccaggga gaccctgtga agccgtctcg gggcccgctg gtgacctgca
      301 cgtgtgagag cccacattgc aaggggccta cctgccgggg ggcctggtgc acagtagtgc
      361 tggtgcggga ggaggggagg cacccccagg aacatcgggg ctgcgggaac ttgcacaggg
      421 agctctgcag ggggcgcccc accgagttcg tcaaccacta ctgctgcgac agccacctct
      481 gcaaccacaa cgtgtccctg gtgctggagg ccacccaacc tccttcggag cagccgggaa
      541 cagatggcca gctggccctg atcctgggcc ccgtgctggc cttgctggcc ctggtggccc
      601 tgggtgtcct gggcctgtgg catgtccgac ggaggcagga gaagcagcgt ggcctgcaca
      661 gcgagctggg agagtccagt ctcatcctga aagcatctga gcagggcgac agcatgttgg
      721 gggacctcct ggacagtgac tgcaccacag ggagtggctc agggctcccc ttcctggtgc
      781 agaggacagt ggcacggcag gttgccttgg tggagtgtgt gggaaaaggc cgctatggcg
      841 aagtgtggcg gggcttgtgg cacggtgaga gtgtggccgt caagatcttc tcctcgaggg
      901 atgaacagtc ctggttccgg gagactgaga tctataacac agtgttgctc agacacgaca
      961 acatcctagg cttcatcgcc tcagacatga cctcccgcaa ctcgagcacg cagctgtggc
     1021 tcatcacgca ctaccacgag cacggctccc tctacgactt tctgcagaga cagacgctgg
     1081 agccccatct ggctctgagg ctagctgtgt ccgcggcatg cggcctggcg cacctgcacg
     1141 tggagatctt cggtacacag ggcaaaccag ccattgccca ccgcgacttc aagagccgca
     1201 atgtgctggt caagagcaac ctgcagtgtt gcatcgccga cctgggcctg gctgtgatgc
     1261 actcacaggg cagcgattac ctggacatcg gcaacaaccc gagagtgggc accaagcggt
     1321 acatggcacc cgaggtgctg gacgagcaga tccgcacgga ctgctttgag tcctacaagt
     1381 ggactgacat ctgggccttt ggcctggtgc tgtgggagat tgcccgccgg accatcgtga
     1441 atggcatcgt ggaggactat agaccaccct tctatgatgt ggtgcccaat gaccccagct
     1501 ttgaggacat gaagaaggtg gtgtgtgtgg atcagcagac ccccaccatc cctaaccggc
     1561 tggctgcaga cccggtcctc tcaggcctag ctcagatgat gcgggagtgc tggtacccaa
     1621 acccctctgc ccgactcacc gcgctgcgga tcaagaagac actacaaaaa attagcaaca
     1681 gtccagagaa gcctaaagtg attcaatagc ccaggagcac ctgattcctt tctgcctgca
     1741 gggggctggg ggggtggggg gcagtggatg gtgccctatc tgggtagagg tagtgtgagt
     1801 gtggtgtgtg ctggggatgg gcagctgcgc ctgcctgctc ggcccccagc ccacccagcc
     1861 aaaaatacag ctgggctgaa acctgatccc ctgctgtctg gcctgctcaa agcggcaggc
     1921 tccctgacgc ctggctctct ccccacccct atggccagca tggtgcaccc cctaccactc
     1981 ccgggacagg atgcaaaaga ggctccagag tcagagtgcc aagccaggga atcccagtcc
     2041 cagactcaga gcccgggcct gcactttgcc ccctgccctt gatcaacccc actgccccac
     2101 cagagctgcc agggtggcac agggccctgt ccagcccctg gcacacactt ccctgccagg
     2161 cctcagcctc tagcataagc tccagagagc cagggcccat cagtttctct ctgtggattt
     2221 gtatctcagc tccatgatgc cttgggcttt ctgtctcctc aacaagagtg cagcttgctg
     2281 aatgtcagct gcctgagaga gctggggcct gacttactag ggcattaaat cctaagaggt
     2341 cctactgagg tgtggcagga tcacaggcca gtggaaaaag ggcaggtcag atgggcaagg
     2401 cccaggactt tcagattaac tgagaggata tcgaggccaa gcatggcagg gggaaggtca
     2461 gtgggtgtca agagacccag gtctgacccc ggatgtttgc tccatgtgac aaaagcaggc
     2521 ctgtctcagg accttttctt ttcttttttc cttctttttt tttttgacac ggagtttcgc
     2581 tcttgttgtc caggctagag tgcaatggca tgatcccagc tcaccgcaac gtctacctcc
     2641 caggttcaaa tcattctctt gcctcagact cccgagtagc tgggattaca ggcacatgcc
     2701 accatgcctg gctaattttg tatatttagt agaaacaggg tttcaccatg ctggccatgc
     2761 tggtctcgaa ctcctgacct caggtgttcc acctacctca gcctcccaaa gtgctggggt
     2821 tacaggtgtg agccatcgcg cctggccagg acctttgttt cttatctaca tattggaaga
     2881 tttggtcctg atgtcctttg aggcttcttt agctctagtt ctctgacact tcagcctata
     2941 tcacagctaa cttcttcagt ctcatctatt ccttatgctc cagcccctgg caatttgcct
     3001 caagatgggg gtttgaaaat aactttacct gactcaagga gtgtctggag cacctcctag
     3061 tctaagtctg caagctccag ttcttgccta aaaccatgcc agtggccacc cttgggctca
     3121 gacagctctg ggccttttga ccacaagcca gcccctcgcc ctctctgtgg catagtcttc
     3181 tctgccccag gactgcaggg cggcttcctc caaggcttcc aaggctcaaa agaaatttgg
     3241 ctccatccaa gaaggctcca gctcccctac tggcccctgg ctcaggccca cacccctggc
     3301 caggcccaga gagtgtgtct caggagaatt caatggctct agagagacac acagaaagtt
     3361 tggcatttgg aaatttcaag gatgtatgta tgctcacgta tggagcaggt tgtcctggtc
     3421 cctgggtgca gggaagtggg ctgcagggaa gtggattgga ggggagcttg aggaatataa
     3481 ggagcggggg tggagactca ggctatggac aaggacagcc ccaaggttgg gaagacctgg
     3541 ccttagtcgt cctcagccta ggggcagggc agtgaagaaa gctctccccg ctcctgctgt
     3601 aatgacccag agtagcctcc ccaggccggc atcttatgtg tgtcttccac catcctcatg
     3661 gtggcacttt tctaggcctg tctcccagca ttgtgcaagg ctcggaagag aaccaggaag
     3721 tgaaactggg tgaaaacaga aagctcaatg gatgggctag gttcccagat cattagggca
     3781 gagtttgcac gtcctctggt cactggaatc cacccagccc acgaatcatc tccctcttga
     3841 aggattttat ttctactggg ttttggaaca aactcctgct gagaccccac agccagaaac
     3901 tgaaagcagc agctccccaa agcctggaaa atccctaaga gaaggcctgg ggcaggaagt
     3961 ggagtgacag gggacaggta gagagaaggg ggcccaatgg ccagggagtg aaggaggtgg
     4021 cgttgctgag agcagtctgc acatgcttct gtctgagtgc aggaaggtgt tccagggtcg
     4081 aaattacact tctcgtacct ggagacgctg tttgtgggag cactgggctc atgcctggca
     4141 cacaataggt ctgcaataaa ccatggttaa atcctga
//
LOCUS       NM_000021               6018 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA.
ACCESSION   NM_000021
VERSION     NM_000021.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6018)
  AUTHORS   van Heusden FC, van Nifterick AM, Souza BC, Franca ASC, Nauta IM,
            Stam CJ, Scheltens P, Smit AB, Gouw AA and van Kesteren RE.
  TITLE     Neurophysiological alterations in mice and humans carrying mutations
            in APP and PSEN1 genes
  JOURNAL   Alzheimers Res Ther 15 (1), 142 (2023)
   PUBMED   37608393
  REMARK    GeneRIF: Neurophysiological alterations in mice and humans carrying
            mutations in APP and PSEN1 genes. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6018)
  AUTHORS   Gomez-Sequeda N, Mendivil-Perez M, Jimenez-Del-Rio M, Lopera F and
            Velez-Pardo C.
  TITLE     Cholinergic-like neurons and cerebral spheroids bearing the PSEN1
            p.Ile416Thr variant mirror Alzheimer's disease neuropathology
  JOURNAL   Sci Rep 13 (1), 12833 (2023)
   PUBMED   37553376
  REMARK    GeneRIF: Cholinergic-like neurons and cerebral spheroids bearing the
            PSEN1 p.Ile416Thr variant mirror Alzheimer's disease neuropathology.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6018)
  AUTHORS   Hurley EM, Mozolewski P, Dobrowolski R and Hsieh J.
  TITLE     Familial Alzheimer's disease-associated PSEN1 mutations affect
            neurodevelopment through increased Notch signaling
  JOURNAL   Stem Cell Reports 18 (7), 1516-1533 (2023)
   PUBMED   37352850
  REMARK    GeneRIF: Familial Alzheimer's disease-associated PSEN1 mutations
            affect neurodevelopment through increased Notch signaling.
REFERENCE   4  (bases 1 to 6018)
  AUTHORS   Hebestreit S, Schwahn J, Sandikci V, Maros ME, Valkadinov I, Yilmaz
            R, Eckrich L, Loghmani SB, Lesch H, Conrad J, Wenz H, Ebert A,
            Brenner D and Weishaupt JH.
  TITLE     PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease
            and primary familial brain calcification co-morbidity
  JOURNAL   Neurogenetics 24 (3), 209-213 (2023)
   PUBMED   37341843
  REMARK    GeneRIF: PSEN1/SLC20A2 double mutation causes early-onset
            Alzheimer's disease and primary familial brain calcification
            co-morbidity.
REFERENCE   5  (bases 1 to 6018)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301486
REFERENCE   6  (bases 1 to 6018)
  AUTHORS   Bird,T.D.
  TITLE     Early-Onset Familial Alzheimer Disease - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301414
REFERENCE   7  (bases 1 to 6018)
  AUTHORS   Bird,T.D.
  TITLE     Alzheimer Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301340
REFERENCE   8  (bases 1 to 6018)
  AUTHORS   St George-Hyslop P, Haines J, Rogaev E, Mortilla M, Vaula G,
            Pericak-Vance M, Foncin JF, Montesi M, Bruni A, Sorbi S, Rainero I,
            Pinessi L, Pollen D, Polinsky R, Nee L, Kennedy J, Macciardi F,
            Rogaeva E, Liang Y, Alexandrova N, Lukiw W, Schlumpf K, Tanzi R,
            Tsuda T, Farrer L, Cantu JM, Duara R, Amaducci L, Bergamini L,
            Gusella J, Roses A, Crapper McLachlan D et al.
  TITLE     Genetic evidence for a novel familial Alzheimer's disease locus on
            chromosome 14
  JOURNAL   Nat Genet 2 (4), 330-334 (1992)
   PUBMED   1303289
REFERENCE   9  (bases 1 to 6018)
  AUTHORS   Schellenberg,G.D., Bird,T.D., Wijsman,E.M., Orr,H.T., Anderson,L.,
            Nemens,E., White,J.A., Bonnycastle,L., Weber,J.L., Alonso,M.E. et
            al.
  TITLE     Genetic linkage evidence for a familial Alzheimer's disease locus on
            chromosome 14
  JOURNAL   Science 258 (5082), 668-671 (1992)
   PUBMED   1411576
REFERENCE   10  (bases 1 to 6018)
  AUTHORS   Schellenberg GD, Boehnke M, Wijsman EM, Moore DK, Martin GM and Bird
            TD.
  TITLE     Genetic association and linkage analysis of the apolipoprotein CII
            locus and familial Alzheimer's disease
  JOURNAL   Ann Neurol 31 (2), 223-227 (1992)
   PUBMED   1349467
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.202632.1,
            SRR1803613.16557.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000324501.10/ ENSP00000326366.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB203403.1, AK312531.1,
            BC011729.2, DB075605.1, AK094186.1, DA670846.1 and AW069286.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 20, 2018 this sequence version replaced NM_000021.3.
            Summary: Alzheimer's disease (AD) patients with an inherited form
            of the disease carry mutations in the presenilin proteins (PSEN1;
            PSEN2) or in the amyloid precursor protein (APP). These
            disease-linked mutations result in increased production of the
            longer form of amyloid-beta (main component of amyloid deposits
            found in AD brains). Presenilins are postulated to regulate APP
            processing through their effects on gamma-secretase, an enzyme that
            cleaves APP. Also, it is thought that the presenilins are involved
            in the cleavage of the Notch receptor, such that they either
            directly regulate gamma-secretase activity or themselves are
            protease enzymes. Several alternatively spliced transcript variants
            encoding different isoforms have been identified for this gene, the
            full-length nature of only some have been determined. [provided by
            RefSeq, Aug 2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (I-467).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6018
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.2"
     gene            1..6018
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="presenilin 1"
                     /db_xref="GeneID:5663"
                     /db_xref="HGNC:HGNC:9508"
                     /db_xref="MIM:104311"
     misc_feature    150..152
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="upstream in-frame stop codon"
     CDS             213..1616
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /EC_number="3.4.23.-"
                     /note="isoform I-467 is encoded by transcript variant 1;
                     familial Alzheimer Disease"
                     /codon_start=1
                     /product="presenilin-1 isoform I-467"
                     /protein_id="NP_000012.1"
                     /db_xref="CCDS:CCDS9812.1"
                     /db_xref="GeneID:5663"
                     /db_xref="HGNC:HGNC:9508"
                     /db_xref="MIM:104311"
                     /translation="MTELPAPLSYFQNAQMSEDNHLSNTVRSQNDNRERQEHNDRRSLG
                     HPEPLSNGRPQGNSRQVVEQDEEEDEELTLKYGAKHVIMLFVPVTLCMVVVVATIKSVS
                     FYTRKDGQLIYTPFTEDTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYKVIH
                     AWLIISSLLLLFFFSFIYLGEVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQ
                     QAYLIMISALMALVFIKYLPEWTAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNET
                     LFPALIYSSTMVWLVNMAEGDPEAQRRVSKNSKYNAESTERESQDTVAENDDGGFSEEW
                     EAQRDSHLGPHRSTPESRAAVQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASAT
                     ASGDWNTTIACFVAILIGLCLTLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMD
                     QLAFHQFYI"
     misc_feature    249..416
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    339..341
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P49768.1);
                     phosphorylation site"
     misc_feature    363..365
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97887; propagated from
                     UniProtKB/Swiss-Prot (P49768.1); phosphorylation site"
     misc_feature    459..521
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     transmembrane region"
     misc_feature    609..671
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     transmembrane region"
     misc_feature    711..779
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     transmembrane region"
     misc_feature    795..860
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     transmembrane region"
     misc_feature    873..935
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     transmembrane region"
     misc_feature    957..1028
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     transmembrane region"
     misc_feature    1074..1082
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     Region: Important for cleavage of target proteins.
                     /evidence=ECO:0000269|PubMed:30598546"
     misc_feature    1083..1088
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="Cleavage, alternate.
                     /evidence=ECO:0000269|PubMed:9173929; propagated from
                     UniProtKB/Swiss-Prot (P49768.1); cleavage site"
     misc_feature    1086..1091
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="Cleavage, alternate.
                     /evidence=ECO:0000269|PubMed:9173929; propagated from
                     UniProtKB/Swiss-Prot (P49768.1); cleavage site"
     misc_feature    1104..1109
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="Cleavage. /evidence=ECO:0000269|PubMed:9173929;
                     propagated from UniProtKB/Swiss-Prot (P49768.1); cleavage
                     site"
     misc_feature    1125..1211
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1140..1142
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:14576165; propagated from
                     UniProtKB/Swiss-Prot (P49768.1); phosphorylation site"
     misc_feature    1176..1562
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     Region: Required for interaction with CTNNB1.
                     /evidence=ECO:0000269|PubMed:9738936"
     misc_feature    1245..1250
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="Cleavage, by caspase.
                     /evidence=ECO:0000269|PubMed:9485372; propagated from
                     UniProtKB/Swiss-Prot (P49768.1); cleavage site"
     misc_feature    1248..1250
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000269|PubMed:14576165; propagated from
                     UniProtKB/Swiss-Prot (P49768.1); phosphorylation site"
     misc_feature    1311..1313
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49768.1); phosphorylation site"
     misc_feature    1326..1409
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     Region: Required for interaction with CTNND2.
                     /evidence=ECO:0000269|PubMed:10037471"
     misc_feature    1341..1355
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     Region: Important for cleavage of target proteins.
                     /evidence=ECO:0000269|PubMed:30598546"
     misc_feature    1353..1415
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     transmembrane region"
     misc_feature    1434..1496
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     transmembrane region"
     misc_feature    1506..1514
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     Region: Important for cleavage of target proteins.
                     /evidence=ECO:0000269|PubMed:30598546"
     misc_feature    1509..1571
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     transmembrane region"
     misc_feature    1509..1517
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     Region: PAL. /evidence=ECO:0000305|PubMed:16305624"
     misc_feature    1602..1613
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="propagated from UniProtKB/Swiss-Prot (P49768.1);
                     Region: Interaction with MTCH1.
                     /evidence=ECO:0000269|PubMed:10551805"
     regulatory      2709..2714
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="hexamer: AGTAAA"
     polyA_site      2729
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="major polyA site"
     regulatory      5998..6003
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="hexamer: AATAAA"
     polyA_site      6018
                     /gene="PSEN1"
                     /gene_synonym="ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182"
                     /note="major polyA site"
ORIGIN
        1 ggaaacaaaa cagcggctgg tctggaagga acctgagcta cgagccgcgg cggcagcggg
       61 gcggcgggga agcgtatacc taatctggga gcctgcaagt gacaacagcc tttgcggtcc
      121 ttagacagct tggcctggag gagaacacat gaaagaaaga acctcaagag gctttgtttt
      181 ctgtgaaaca gtatttctat acagttgctc caatgacaga gttacctgca ccgttgtcct
      241 acttccagaa tgcacagatg tctgaggaca accacctgag caatactgta cgtagccaga
      301 atgacaatag agaacggcag gagcacaacg acagacggag ccttggccac cctgagccat
      361 tatctaatgg acgaccccag ggtaactccc ggcaggtggt ggagcaagat gaggaagaag
      421 atgaggagct gacattgaaa tatggcgcca agcatgtgat catgctcttt gtccctgtga
      481 ctctctgcat ggtggtggtc gtggctacca ttaagtcagt cagcttttat acccggaagg
      541 atgggcagct aatctatacc ccattcacag aagataccga gactgtgggc cagagagccc
      601 tgcactcaat tctgaatgct gccatcatga tcagtgtcat tgttgtcatg actatcctcc
      661 tggtggttct gtataaatac aggtgctata aggtcatcca tgcctggctt attatatcat
      721 ctctattgtt gctgttcttt ttttcattca tttacttggg ggaagtgttt aaaacctata
      781 acgttgctgt ggactacatt actgttgcac tcctgatctg gaattttggt gtggtgggaa
      841 tgatttccat tcactggaaa ggtccacttc gactccagca ggcatatctc attatgatta
      901 gtgccctcat ggccctggtg tttatcaagt acctccctga atggactgcg tggctcatct
      961 tggctgtgat ttcagtatat gatttagtgg ctgttttgtg tccgaaaggt ccacttcgta
     1021 tgctggttga aacagctcag gagagaaatg aaacgctttt tccagctctc atttactcct
     1081 caacaatggt gtggttggtg aatatggcag aaggagaccc ggaagctcaa aggagagtat
     1141 ccaaaaattc caagtataat gcagaaagca cagaaaggga gtcacaagac actgttgcag
     1201 agaatgatga tggcgggttc agtgaggaat gggaagccca gagggacagt catctagggc
     1261 ctcatcgctc tacacctgag tcacgagctg ctgtccagga actttccagc agtatcctcg
     1321 ctggtgaaga cccagaggaa aggggagtaa aacttggatt gggagatttc attttctaca
     1381 gtgttctggt tggtaaagcc tcagcaacag ccagtggaga ctggaacaca accatagcct
     1441 gtttcgtagc catattaatt ggtttgtgcc ttacattatt actccttgcc attttcaaga
     1501 aagcattgcc agctcttcca atctccatca cctttgggct tgttttctac tttgccacag
     1561 attatcttgt acagcctttt atggaccaat tagcattcca tcaattttat atctagcata
     1621 tttgcggtta gaatcccatg gatgtttctt ctttgactat aacaaaatct ggggaggaca
     1681 aaggtgattt tcctgtgtcc acatctaaca aagtcaagat tcccggctgg acttttgcag
     1741 cttccttcca agtcttcctg accaccttgc actattggac tttggaagga ggtgcctata
     1801 gaaaacgatt ttgaacatac ttcatcgcag tggactgtgt ccctcggtgc agaaactacc
     1861 agatttgagg gacgaggtca aggagatatg ataggcccgg aagttgctgt gccccatcag
     1921 cagcttgacg cgtggtcaca ggacgatttc actgacactg cgaactctca ggactaccgt
     1981 taccaagagg ttaggtgaag tggtttaaac caaacggaac tcttcatctt aaactacacg
     2041 ttgaaaatca acccaataat tctgtattaa ctgaattctg aacttttcag gaggtactgt
     2101 gaggaagagc aggcaccagc agcagaatgg ggaatggaga ggtgggcagg ggttccagct
     2161 tccctttgat tttttgctgc agactcatcc tttttaaatg agacttgttt tcccctctct
     2221 ttgagtcaag tcaaatatgt agattgcctt tggcaattct tcttctcaag cactgacact
     2281 cattaccgtc tgtgattgcc atttcttccc aaggccagtc tgaacctgag gttgctttat
     2341 cctaaaagtt ttaacctcag gttccaaatt cagtaaattt tggaaacagt acagctattt
     2401 ctcatcaatt ctctatcatg ttgaagtcaa atttggattt tccaccaaat tctgaatttg
     2461 tagacatact tgtacgctca cttgccccag atgcctcctc tgtcctcatt cttctctccc
     2521 acacaagcag tctttttcta cagccagtaa ggcagctctg tcgtggtagc agatggtccc
     2581 attattctag ggtcttactc tttgtatgat gaaaagaatg tgttatgaat cggtgctgtc
     2641 agccctgctg tcagaccttc ttccacagca aatgagatgt atgcccaaag acggtagaat
     2701 taaagaagag taaaatggct gttgaagcac tttctgtcct ggtattttgt ttttgctttt
     2761 gccacacagt agctcagaat ttgaacaaat agccaaaagc tggtggttga tgaattatga
     2821 actagttgta tcaacacaaa gcaagagttg gggaaagcca tatttaactt ggtgagctgt
     2881 gggagaacct ggtggcagaa ggagaaccaa ctgccaaggg gaaagagaag gggcctccag
     2941 cagcgaaggg gatacagtga gctaatgatg tcaaggagga gtttcaggtt attctcgtca
     3001 gctccacaaa tgggtgcttt gtggtctctg cccgcgttac ctttcctctc aatgtacctt
     3061 tgtgtgaact gggcagtgga ggtgcctgct gcagttacca tggagttcag gctctgggca
     3121 gctcagtcag gcaaaacaca caaacagcca tcagcctgtg tgggctcagg gcacctctgg
     3181 acaaaggctt gtggggcata accttcttta ccacagagag cccttagcta tgctgatcag
     3241 accgtaagcg tttatgagaa acttagtttc ctcctgtggc tgaggagggg ccagcttttt
     3301 cttcttttgc ctgctgtttt ctctcccaat ctatgatatg atatgacctg gtttggggct
     3361 gtctttggtg tttagaatat ttgttttctg tcccaggata tttcttataa gaacctaact
     3421 tcaagagtag tgtgcgagta ctgatctgaa tttaaattaa aattggctta tattaggcag
     3481 tcacagacag gaaaaataag agctatgcaa agaaaggggg atttaaagta gtaggttcta
     3541 tcatctcaat tcattttttt ccatgaaatc ccttcttcca agattcattc cctctctcag
     3601 acatgtgcta gcatgggtat tatcattgag aaagcacagc tacagcaaag ccacctgaat
     3661 agcaatttgt gattggaagc attcttgagg gatccctaat ctagagtaat ttatttgtgt
     3721 aaggatccca aatgtgttgc acctttcatg atacatttct tctctgaaga gggtacgtgg
     3781 ggtgtgtgta tttaaatcca tcctatgtat tactgattgt cctgtgtaga aagatggcaa
     3841 ttattctgtc tctttctcca agtttgagcc acatctcagc cacattgtta gacagtgtac
     3901 agagaaccta tctttccttt tttttttttt aaaggacagg attttgctgt gttgcccagg
     3961 ctagacttga actcctgggc tcaagtaatc cacctcagcc tgagtagctg agactacagc
     4021 ccatcttatt tctttaaatc attcatctca ggcagagaac ttttccctca aacattcttt
     4081 ttagaattag ttcagtcatt cctaaaacat ccaaatgcta gtcttccacc atgaaaaata
     4141 gattgtcact ggaaagaaca gtagcaattt ccataaggat gtgccttcac tcacacggga
     4201 caggcggtgg ttatagagtc gggcaaaacc agcagtagag tatgaccagc caagccaatc
     4261 tgcttaataa aaagatggaa gacagtaagg aaggaaagta gccactaaga gtctgagtct
     4321 gactgggcta cagaataaag ggtatttatg gacagaatgt cattacatgc ctatgggaat
     4381 accaatcata tttggaagat ttgcagattt tttttcagag aggaaagact caccttcctg
     4441 tttttggttc tcagtaggtt cgtgtgtgtt cctagaatca cagctctgac tccaaatgac
     4501 tcaatttctc aattagaaaa agtagaagct ttctaagcaa cttggaagaa aacagtcata
     4561 agtaagcaat ttgttgattt tactacagaa gcaacaactg aagaggcagt gtttttactt
     4621 tcagactccg ggattcccat tctgtagtct ctctgctttt aaaaaccctc cttttgcaat
     4681 agatgcccaa acagatgatg tttattactt gttatttacg tggcctcaga cagtgtatgt
     4741 attctcgata taacttgtag agtgtgaaat ataagtttaa ctaccaaata aggtctccca
     4801 gggttagatg actgcgggaa gcctttgatc ccaaccccca aggctttgta tatttgatca
     4861 tttgtgatct aaccctggaa gaaaaagagc tcagaaacca ctatgaaaaa atttgttcag
     4921 tgttttctgt gttcccgtag gttctggagt ctgaggatgc aaagatgaat aagataaatt
     4981 ctcagaatgt agttataatc tcttgttttc tggtatatgc catctttctt taacttctct
     5041 aaaatattgg gtatttgtca aataaccact tttaacagtt accattactg agggcttata
     5101 cattggtgtt ataaaagtga cttgattcag aaatcaatcc attcagtaaa gtactccttc
     5161 tctaaatttg ctgttatgtc tataaggaac agtttgacct gcccttctcc tcacctcctc
     5221 acctgccttc caacattgaa tttggaagga gacgtgaaaa ttggacattt ggttttgccc
     5281 ttgggctgga aactatcata taatcataag tttgagccta gaagtgatcc ttgtgatctt
     5341 ctcacctctt taaattccca caacacaaga gattaaaaac agaggtttca gctcttcata
     5401 gtgcgttgtg aaatggctgg ccagagtgta ccaacaaagc tgtcatcggg ctcacagctc
     5461 agagacatct gcatgtgatc atctgcatag tcctctcctc taacgggaaa cacctcagat
     5521 ttgcatataa aaaagcaccc tggtgctgaa atgaacccct ttcttgaaca tcaaagctgt
     5581 ctcccacagc cttgggcagc agggtgcctc ttagtggatg tgctgggtcc accctgagcc
     5641 ctgacatgtg gtggcagcat tgccagttgg tctgtgtgtc tgtgtagcag ggacgatttc
     5701 ccagaaagca attttccttt tgaaatacgt aattgttgag actaggcagt ttcaaagtca
     5761 gctgcatata gtagcaagta caggactgtc ttgtttttgg tgtccttgga ggtgctgggg
     5821 tgagggtttc agtgggatca tttactctca catgttgtct gccttctgct tctgtggaca
     5881 ctgctttgta cttaattcag acagactgtg aatacacctt ttttataaat acctttcaaa
     5941 ttcttggtaa gatataattt tgatagctga ttgcagattt tctgtatttg tcagattaat
     6001 aaagactgca tgaatcca
//
LOCUS       NM_000022               1496 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens adenosine deaminase (ADA), transcript variant 1, mRNA.
ACCESSION   NM_000022
VERSION     NM_000022.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1496)
  AUTHORS   Jedrzejewska A, Kawecka A, Braczko A, Romanowska-Kocejko M,
            Stawarska K, Deptula M, Zawrzykraj M, Franczak M, Krol O, Harasim G,
            Walczak I, Pikula M, Hellmann M and Kutryb-Zajac B.
  TITLE     Changes in Adenosine Deaminase Activity and Endothelial Dysfunction
            after Mild Coronavirus Disease-2019
  JOURNAL   Int J Mol Sci 24 (17), 13140 (2023)
   PUBMED   37685949
  REMARK    GeneRIF: Changes in Adenosine Deaminase Activity and Endothelial
            Dysfunction after Mild Coronavirus Disease-2019. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 1496)
  AUTHORS   Zhang Y, Liu W, Shu Z, Li Y, Sun F, Li ZG, Han TX, Mao HW and Wang
            TY.
  TITLE     Delayed-onset adenosine deaminase deficiency with a novel synonymous
            mutation and a case series from China
  JOURNAL   World J Pediatr 19 (7), 687-700 (2023)
   PUBMED   37154862
  REMARK    GeneRIF: Delayed-onset adenosine deaminase deficiency with a novel
            synonymous mutation and a case series from China.
REFERENCE   3  (bases 1 to 1496)
  AUTHORS   Shi T, Huang L, Zhang W, Shi W, Wu J, Bian Y, Jiang Y and Tian J.
  TITLE     Identification of ADA as a Biomarker for Atypical Epstein Barr Virus
            Infection in Children
  JOURNAL   Klin Padiatr 235 (4), 221-227 (2023)
   PUBMED   37116540
  REMARK    GeneRIF: Identification of ADA as a Biomarker for Atypical Epstein
            Barr Virus Infection in Children.
REFERENCE   4  (bases 1 to 1496)
  AUTHORS   Zhang H, Ye H, Xu Z, Dong K, Wang Y, Geng L and Wang S.
  TITLE     Correlation of serum adenosine deaminase activity with disease
            activity in patients with primary Sjogren's syndrome
  JOURNAL   Immunol Lett 258, 1-7 (2023)
   PUBMED   37127120
  REMARK    GeneRIF: Correlation of serum adenosine deaminase activity with
            disease activity in patients with primary Sjogren's syndrome.
REFERENCE   5  (bases 1 to 1496)
  AUTHORS   Ye Q and Yan W.
  TITLE     Adenosine deaminase from the cerebrospinal fluid for the diagnosis
            of tuberculous meningitis: A meta-analysis
  JOURNAL   Trop Med Int Health 28 (3), 175-185 (2023)
   PUBMED   36591905
  REMARK    GeneRIF: Adenosine deaminase from the cerebrospinal fluid for the
            diagnosis of tuberculous meningitis: A meta-analysis. Review article
REFERENCE   6  (bases 1 to 1496)
  AUTHORS   Hershfield,M.
  TITLE     Adenosine Deaminase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301656
REFERENCE   7  (bases 1 to 1496)
  AUTHORS   Hirschhorn R.
  TITLE     Identification of two new missense mutations (R156C and S291L) in
            two ADA- SCID patients unusual for response to therapy with partial
            exchange transfusions
  JOURNAL   Hum Mutat 1 (2), 166-168 (1992)
   PUBMED   1284479
REFERENCE   8  (bases 1 to 1496)
  AUTHORS   da Cunha JG.
  TITLE     [Adenosine deaminase. A pluridisciplinary enzyme]
  JOURNAL   Acta Med Port 4 (6), 315-323 (1991)
   PUBMED   1807098
  REMARK    Review article
REFERENCE   9  (bases 1 to 1496)
  AUTHORS   Aran JM, Colomer D, Matutes E, Vives-Corrons JL and Franco R.
  TITLE     Presence of adenosine deaminase on the surface of mononuclear blood
            cells: immunochemical localization using light and electron
            microscopy
  JOURNAL   J Histochem Cytochem 39 (8), 1001-1008 (1991)
   PUBMED   1856451
REFERENCE   10  (bases 1 to 1496)
  AUTHORS   Berkvens TM, van Ormondt H, Gerritsen EJ, Khan PM and van der Eb AJ.
  TITLE     Identical 3250-bp deletion between two AluI repeats in the ADA genes
            of unrelated ADA-SCID patients
  JOURNAL   Genomics 7 (4), 486-490 (1990)
   PUBMED   1696926
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC040226.1, X02994.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000372874.9/ ENSP00000361965.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139352.16 and Z97053.2.
            On Nov 21, 2018 this sequence version replaced NM_000022.3.
            Summary: This gene encodes an enzyme that catalyzes the hydrolysis
            of adenosine to inosine in the purine catabolic pathway. Various
            mutations have been described for this gene and have been linked to
            human diseases related to impaired immune function such as severe
            combined immunodeficiency disease (SCID) which is the result of a
            deficiency in the ADA enzyme. In ADA-deficient individuals there is
            a marked depletion of T, B, and NK lymphocytes, and consequently, a
            lack of both humoral and cellular immunity. Conversely, elevated
            levels of this enzyme are associated with congenital hemolytic
            anemia. [provided by RefSeq, Sep 2019].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1496
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..1496
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /note="adenosine deaminase"
                     /db_xref="GeneID:100"
                     /db_xref="HGNC:HGNC:186"
                     /db_xref="MIM:608958"
     CDS             93..1184
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /EC_number="3.5.4.4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     adenosine aminohydrolase"
                     /codon_start=1
                     /product="adenosine deaminase isoform 1"
                     /protein_id="NP_000013.2"
                     /db_xref="CCDS:CCDS13335.1"
                     /db_xref="GeneID:100"
                     /db_xref="HGNC:HGNC:186"
                     /db_xref="MIM:608958"
                     /translation="MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEG
                     LLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSP
                     HLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSP
                     KVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAE
                     VVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVI
                     RLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEK
                     RELLDLLYKAYGMPPSASAGQNL"
     misc_feature    96..98
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.8;
                     propagated from UniProtKB/Swiss-Prot (P00813.3);
                     acetylation site"
     misc_feature    252..254
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00813.3); acetylation site"
     misc_feature    264..266
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /note="Important for interaction with adenosine receptors
                     and increasing their affinity for agonists.
                     /evidence=ECO:0000269|PubMed:23193172; propagated from
                     UniProtKB/Swiss-Prot (P00813.3); other site"
     misc_feature    276..278
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /note="Important for interaction with adenosine receptors
                     and increasing their affinity for agonists.
                     /evidence=ECO:0000269|PubMed:23193172; propagated from
                     UniProtKB/Swiss-Prot (P00813.3); other site"
     misc_feature    468..521
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /note="propagated from UniProtKB/Swiss-Prot (P00813.3);
                     Region: Required for binding to DDP4.
                     /evidence=ECO:0000269|PubMed:15016824"
     misc_feature    786..788
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00813.3); acetylation site"
     misc_feature    804..806
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /note="Important for catalytic activity.
                     /evidence=ECO:0000250|UniProtKB:P03958; propagated from
                     UniProtKB/Swiss-Prot (P00813.3); other site"
     regulatory      1467..1472
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /note="hexamer: AATAAA"
     polyA_site      1496
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /note="major polyA site"
ORIGIN
        1 gctggcccca gggaaagccg agcggccacc gagccggcag agacccaccg agcggcggcg
       61 gagggagcag cgccggggcg cacgagggca ccatggccca gacgcccgcc ttcgacaagc
      121 ccaaagtgga actgcatgtc cacctagacg gatccatcaa gcctgaaacc atcttatact
      181 atggcaggag gagagggatc gccctcccag ctaacacagc agaggggctg ctgaacgtca
      241 ttggcatgga caagccgctc acccttccag acttcctggc caagtttgac tactacatgc
      301 ctgctatcgc gggctgccgg gaggctatca aaaggatcgc ctatgagttt gtagagatga
      361 aggccaaaga gggcgtggtg tatgtggagg tgcggtacag tccgcacctg ctggccaact
      421 ccaaagtgga gccaatcccc tggaaccagg ctgaagggga cctcacccca gacgaggtgg
      481 tggccctagt gggccagggc ctgcaggagg gggagcgaga cttcggggtc aaggcccggt
      541 ccatcctgtg ctgcatgcgc caccagccca actggtcccc caaggtggtg gagctgtgta
      601 agaagtacca gcagcagacc gtggtagcca ttgacctggc tggagatgag accatcccag
      661 gaagcagcct cttgcctgga catgtccagg cctaccagga ggctgtgaag agcggcattc
      721 accgtactgt ccacgccggg gaggtgggct cggccgaagt agtaaaagag gctgtggaca
      781 tactcaagac agagcggctg ggacacggct accacaccct ggaagaccag gccctttata
      841 acaggctgcg gcaggaaaac atgcacttcg agatctgccc ctggtccagc tacctcactg
      901 gtgcctggaa gccggacacg gagcatgcag tcattcggct caaaaatgac caggctaact
      961 actcgctcaa cacagatgac ccgctcatct tcaagtccac cctggacact gattaccaga
     1021 tgaccaaacg ggacatgggc tttactgaag aggagtttaa aaggctgaac atcaatgcgg
     1081 ccaaatctag tttcctccca gaagatgaaa agagggagct tctcgacctg ctctataaag
     1141 cctatgggat gccaccttca gcctctgcag ggcagaacct ctgaagacgc cactcctcca
     1201 agccttcacc ctgtggagtc accccaactc tgtggggctg agcaacattt ttacatttat
     1261 tccttccaag aagaccatga tctcaatagt cagttactga tgctcctgaa ccctatgtgt
     1321 ccatttctgc acacacgtat acctcggcat ggccgcgtca cttctctgat tatgtgccct
     1381 ggccagggac cagcgccctt gcacatgggc atggttgaat ctgaaaccct ccttctgtgg
     1441 caacttgtac tgaaaatctg gtgctcaata aagaagccca tggctggtgg catgca
//
LOCUS       NM_000023               1429 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens sarcoglycan alpha (SGCA), transcript variant 1, mRNA.
ACCESSION   NM_000023
VERSION     NM_000023.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1429)
  AUTHORS   Escobar H, Krause A, Keiper S, Kieshauer J, Muthel S, de Paredes MG,
            Metzler E, Kuhn R, Heyd F and Spuler S.
  TITLE     Base editing repairs an SGCA mutation in human primary muscle stem
            cells
  JOURNAL   JCI Insight 6 (10), 145994 (2021)
   PUBMED   33848270
  REMARK    GeneRIF: Base editing repairs an SGCA mutation in human primary
            muscle stem cells. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1429)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1429)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1429)
  AUTHORS   Cantero D, Hernandez-Lain A, Martinez JFG, Perez MR, Ruano Y, Lleixa
            C, Gallardo E and Dominguez-Gonzalez C.
  TITLE     Milder forms of alpha-sarcoglicanopathies diagnosed in adulthood by
            NGS analysis
  JOURNAL   J Neurol Sci 394, 63-67 (2018)
   PUBMED   30218921
  REMARK    GeneRIF: This study showed three Sarcoglycanopathies caused by
            mutations in SGCA genes.
REFERENCE   5  (bases 1 to 1429)
  AUTHORS   Kawai H, Akaike M, Endo T, Adachi K, Inui T, Mitsui T, Kashiwagi S,
            Fujiwara T, Okuno S, Shin S et al.
  TITLE     Adhalin gene mutations in patients with autosomal recessive
            childhood onset muscular dystrophy with adhalin deficiency
  JOURNAL   J Clin Invest 96 (3), 1202-1207 (1995)
   PUBMED   7657792
REFERENCE   6  (bases 1 to 1429)
  AUTHORS   Piccolo,F., Roberds,S.L., Jeanpierre,M., Leturcq,F., Azibi,K.,
            Beldjord,C., Carrie,A., Recan,D., Chaouch,M., Reghis,A. et al.
  TITLE     Primary adhalinopathy: a common cause of autosomal recessive
            muscular dystrophy of variable severity
  JOURNAL   Nat Genet 10 (2), 243-245 (1995)
   PUBMED   7663524
  REMARK    Erratum:[Nat Genet 1995 Sep 11(1):104]
REFERENCE   7  (bases 1 to 1429)
  AUTHORS   Yang B, Jung D, Motto D, Meyer J, Koretzky G and Campbell KP.
  TITLE     SH3 domain-mediated interaction of dystroglycan and Grb2
  JOURNAL   J Biol Chem 270 (20), 11711-11714 (1995)
   PUBMED   7744812
REFERENCE   8  (bases 1 to 1429)
  AUTHORS   McNally EM, Yoshida M, Mizuno Y, Ozawa E and Kunkel LM.
  TITLE     Human adhalin is alternatively spliced and the gene is located on
            chromosome 17q21
  JOURNAL   Proc Natl Acad Sci U S A 91 (21), 9690-9694 (1994)
   PUBMED   7937874
REFERENCE   9  (bases 1 to 1429)
  AUTHORS   Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson
            RD, Lim LE, Lee JC, Tome FM, Romero NB et al.
  TITLE     Missense mutations in the adhalin gene linked to autosomal recessive
            muscular dystrophy
  JOURNAL   Cell 78 (4), 625-633 (1994)
   PUBMED   8069911
REFERENCE   10  (bases 1 to 1429)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301582
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.985073.1, L34355.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000262018.8/ ENSP00000262018.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC015909.14.
            On Nov 24, 2018 this sequence version replaced NM_000023.3.
            Summary: This gene encodes a component of the
            dystrophin-glycoprotein complex (DGC), which is critical to the
            stability of muscle fiber membranes and to the linking of the actin
            cytoskeleton to the extracellular matrix. Its expression is thought
            to be restricted to striated muscle. Mutations in this gene result
            in type 2D autosomal recessive limb-girdle muscular dystrophy.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Oct 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1429
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     gene            1..1429
                     /gene="SGCA"
                     /gene_synonym="50DAG; adhalin; ADL; DAG2; DMDA2; LGMD2D;
                     LGMDR3; SCARMD1"
                     /note="sarcoglycan alpha"
                     /db_xref="GeneID:6442"
                     /db_xref="HGNC:HGNC:10805"
                     /db_xref="MIM:600119"
     CDS             37..1200
                     /gene="SGCA"
                     /gene_synonym="50DAG; adhalin; ADL; DAG2; DMDA2; LGMD2D;
                     LGMDR3; SCARMD1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; alpha-sarcoglycan; 50kD DAG; alpha-SG; dystroglycan-2;
                     50 kDa dystrophin-associated glycoprotein; sarcoglycan,
                     alpha (50kDa dystrophin-associated glycoprotein); limb
                     girdle muscular dystrophy 2D"
                     /codon_start=1
                     /product="alpha-sarcoglycan isoform 1 precursor"
                     /protein_id="NP_000014.1"
                     /db_xref="CCDS:CCDS32679.1"
                     /db_xref="GeneID:6442"
                     /db_xref="HGNC:HGNC:10805"
                     /db_xref="MIM:600119"
                     /translation="MAETLFWTPLLVVLLAGLGDTEAQQTTLHPLVGRVFVHTLDHETF
                     LSLPEHVAVPPAVHITYHAHLQGHPDLPRWLRYTQRSPHHPGFLYGSATPEDRGLQVIE
                     VTAYNRDSFDTTRQRLVLEIGDPEGPLLPYQAEFLVRSHDAEEVLPSTPASRFLSALGG
                     LWEPGELQLLNVTSALDRGGRVPLPIEGRKEGVYIKVGSASPFSTCLKMVASPDSHARC
                     AQGQPPLLSCYDTLAPHFRVDWCNVTLVDKSVPEPADEVPTPGDGILEHDPFFCPPTEA
                     PDRDFLVDALVTLLVPLLVALLLTLLLAYVMCCRREGRLKRDLATSDIQMVHHCTIHGN
                     TEELRQMAASREVPRPLSTLPMFNVHTGERLPPRVDSAQVPLILDQH"
     sig_peptide     37..105
                     /gene="SGCA"
                     /gene_synonym="50DAG; adhalin; ADL; DAG2; DMDA2; LGMD2D;
                     LGMDR3; SCARMD1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     106..1197
                     /gene="SGCA"
                     /gene_synonym="50DAG; adhalin; ADL; DAG2; DMDA2; LGMD2D;
                     LGMDR3; SCARMD1"
                     /product="Alpha-sarcoglycan. /id=PRO_0000031673"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16586.1)"
     misc_feature    556..558
                     /gene="SGCA"
                     /gene_synonym="50DAG; adhalin; ADL; DAG2; DMDA2; LGMD2D;
                     LGMDR3; SCARMD1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16586.1); glycosylation site"
     misc_feature    772..774
                     /gene="SGCA"
                     /gene_synonym="50DAG; adhalin; ADL; DAG2; DMDA2; LGMD2D;
                     LGMDR3; SCARMD1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16586.1); glycosylation site"
     misc_feature    907..969
                     /gene="SGCA"
                     /gene_synonym="50DAG; adhalin; ADL; DAG2; DMDA2; LGMD2D;
                     LGMDR3; SCARMD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16586.1);
                     transmembrane region"
     misc_feature    1165..1167
                     /gene="SGCA"
                     /gene_synonym="50DAG; adhalin; ADL; DAG2; DMDA2; LGMD2D;
                     LGMDR3; SCARMD1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P82350; propagated from
                     UniProtKB/Swiss-Prot (Q16586.1); phosphorylation site"
     regulatory      1378..1383
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGCA"
                     /gene_synonym="50DAG; adhalin; ADL; DAG2; DMDA2; LGMD2D;
                     LGMDR3; SCARMD1"
                     /note="hexamer: AATAAA"
     polyA_site      1405
                     /gene="SGCA"
                     /gene_synonym="50DAG; adhalin; ADL; DAG2; DMDA2; LGMD2D;
                     LGMDR3; SCARMD1"
                     /note="major polyA site"
     polyA_site      1429
                     /gene="SGCA"
                     /gene_synonym="50DAG; adhalin; ADL; DAG2; DMDA2; LGMD2D;
                     LGMDR3; SCARMD1"
                     /note="major polyA site"
ORIGIN
        1 ctctgtcact caccgggcgg gccaggccgg gcagccatgg ctgagacact cttctggact
       61 cctctcctcg tggttctcct ggcagggctg ggggacaccg aggcccagca gaccacgcta
      121 cacccacttg tgggccgtgt ctttgtgcac accttggacc atgagacgtt tctgagcctt
      181 cctgagcatg tcgctgtccc acccgctgtc cacatcacct accacgccca cctccaggga
      241 cacccagacc tgccccggtg gctccgctac acccagcgca gcccccacca ccctggcttc
      301 ctctacggct ctgccacccc agaagatcgt gggctccagg tcattgaggt cacagcctac
      361 aatcgggaca gctttgatac cactcggcag aggctggtgc tggagattgg ggacccagaa
      421 ggccccctgc tgccatacca agccgagttc ctggtgcgca gccacgatgc ggaggaggtg
      481 ctgccctcaa cacctgccag ccgcttcctc tcagccttgg ggggactctg ggagcccgga
      541 gagcttcagc tgctcaacgt cacctctgcc ttggaccgtg ggggccgtgt cccccttccc
      601 attgagggcc gaaaagaagg ggtatacatt aaggtgggtt ctgcctcacc tttttctact
      661 tgcctgaaga tggtggcatc ccccgatagc cacgcccgct gtgcccaggg ccagcctcca
      721 cttctgtctt gctacgacac cttggcaccc cacttccgcg ttgactggtg caatgtgacc
      781 ctggtggata agtcagtgcc ggagcctgca gatgaggtgc ccaccccagg tgatgggatc
      841 ctggagcatg acccgttctt ctgcccaccc actgaggccc cagaccgtga cttcttggtg
      901 gatgctctgg tcaccctcct ggtgcccctg ctggtggccc tgcttctcac cttgctgctg
      961 gcctatgtca tgtgctgccg gcgggaggga aggctgaaga gagacctggc tacctccgac
     1021 atccagatgg tccaccactg caccatccac gggaacacag aggagctgcg gcagatggcg
     1081 gccagccgcg aggtgccccg gccactctcc accctgccca tgttcaatgt gcacacaggt
     1141 gagcggctgc ctccccgcgt ggacagcgcc caggtgcccc tcattctgga ccagcactga
     1201 cagcctagcc agtggttcca ggtccagccc tgacttcatc ctcccttctc tgtccacacc
     1261 acgagtggca catcccacct gctgattcca gctcctggcc ctcctggaac ccaggctcta
     1321 aacaagcagg gagagggggt ggggtggggt gagagtgtgt ggagtaagga cattcagaat
     1381 aaatatctgc tgctctgctc accaattgct gctggcagcc tctcccgtc
//
LOCUS       NM_000024               2013 bp    mRNA    linear   PRI 23-AUG-2023
DEFINITION  Homo sapiens adrenoceptor beta 2 (ADRB2), mRNA.
ACCESSION   NM_000024
VERSION     NM_000024.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2013)
  AUTHORS   Stolk RF, Bruse N, Ter Horst R, Jansen A, Ricano Ponce I, Gerretsen
            J, van der Hoeven J, Kumar V, Netea MG, Pickkers P and Kox M.
  TITLE     The impact of ADRB2 polymorphisms on immune responses and
            norepinephrine-induced immunosuppression
  JOURNAL   J Leukoc Biol 113 (1), 84-92 (2023)
   PUBMED   36822159
  REMARK    GeneRIF: The impact of ADRB2 polymorphisms on immune responses and
            norepinephrine-induced immunosuppression.
REFERENCE   2  (bases 1 to 2013)
  AUTHORS   Shah SD, Lind C, De Pascali F, Penn RB, MacKerell AD Jr and
            Deshpande DA.
  TITLE     In silico identification of a beta2-adrenoceptor allosteric site
            that selectively augments canonical beta2AR-Gs signaling and
            function
  JOURNAL   Proc Natl Acad Sci U S A 119 (49), e2214024119 (2022)
   PUBMED   36449547
  REMARK    GeneRIF: In silico identification of a beta2-adrenoceptor allosteric
            site that selectively augments canonical beta2AR-Gs signaling and
            function.
REFERENCE   3  (bases 1 to 2013)
  AUTHORS   Ji L, Xu F, Zhang J, Song T, Chen W, Yin X, Wang Q, Chen X, Li X,
            Guo M and Chen Z.
  TITLE     ADRB2 expression predicts the clinical outcomes and is associated
            with immune cells infiltration in lung adenocarcinoma
  JOURNAL   Sci Rep 12 (1), 15994 (2022)
   PUBMED   36163241
  REMARK    GeneRIF: ADRB2 expression predicts the clinical outcomes and is
            associated with immune cells infiltration in lung adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2013)
  AUTHORS   Gardner KP, Cristofanilli M, Chumsri S, Lapidus R, Tang CM,
            Raghavakaimal A and Adams DL.
  TITLE     Beta 2-Adrenergic Receptor in Circulating Cancer-Associated Cells
            Predicts for Increases in Stromal Macrophages in Circulation and
            Patient Survival in Metastatic Breast Cancer
  JOURNAL   Int J Mol Sci 23 (13), 7299 (2022)
   PUBMED   35806301
  REMARK    GeneRIF: Beta 2-Adrenergic Receptor in Circulating Cancer-Associated
            Cells Predicts for Increases in Stromal Macrophages in Circulation
            and Patient Survival in Metastatic Breast Cancer. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 2013)
  AUTHORS   Parola AL and Kobilka BK.
  TITLE     The peptide product of a 5' leader cistron in the beta 2 adrenergic
            receptor mRNA inhibits receptor synthesis
  JOURNAL   J Biol Chem 269 (6), 4497-4505 (1994)
   PUBMED   8308019
REFERENCE   6  (bases 1 to 2013)
  AUTHORS   Gope R, Gope ML, Thorson A, Christensen M, Smyrk T, Chun M, Alvarez
            L, Wildrick DM and Boman BM.
  TITLE     Genetic changes at the beta-2-adrenergic receptor locus on
            chromosome 5 in human colorectal carcinomas
  JOURNAL   Anticancer Res 11 (6), 2047-2050 (1991)
   PUBMED   1663718
REFERENCE   7  (bases 1 to 2013)
  AUTHORS   Bouvier M, Guilbault N and Bonin H.
  TITLE     Phorbol-ester-induced phosphorylation of the beta 2-adrenergic
            receptor decreases its coupling to Gs
  JOURNAL   FEBS Lett 279 (2), 243-248 (1991)
   PUBMED   1848190
REFERENCE   8  (bases 1 to 2013)
  AUTHORS   Yang-Feng TL, Xue FY, Zhong WW, Cotecchia S, Frielle T, Caron MG,
            Lefkowitz RJ and Francke U.
  TITLE     Chromosomal organization of adrenergic receptor genes
  JOURNAL   Proc Natl Acad Sci U S A 87 (4), 1516-1520 (1990)
   PUBMED   2154750
REFERENCE   9  (bases 1 to 2013)
  AUTHORS   Emorine LJ, Marullo S, Delavier-Klutchko C, Kaveri SV,
            Durieu-Trautmann O and Strosberg AD.
  TITLE     Structure of the gene for human beta 2-adrenergic receptor:
            expression and promoter characterization
  JOURNAL   Proc Natl Acad Sci U S A 84 (20), 6995-6999 (1987)
   PUBMED   2823249
REFERENCE   10  (bases 1 to 2013)
  AUTHORS   Bucens,D. and Pain,M.C.
  TITLE     Influence of hematocrit, blood gas tensions, and pH on pressure-flow
            relations in the isolated canine lung
  JOURNAL   Circ Res 37 (5), 588-596 (1975)
   PUBMED   154
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: X04827.1, AK313151.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000305988.6/ ENSP00000305372.4
            RefSeq Select criteria :: based on single protein-coding transcript
            regulatory uORF          :: PMID: 8308019
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313151.1, AC011354.4,
            BC073856.1 and CA440083.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 15, 2020 this sequence version replaced NM_000024.5.
            Summary: This gene encodes beta-2-adrenergic receptor which is a
            member of the G protein-coupled receptor superfamily. This receptor
            is directly associated with one of its ultimate effectors, the
            class C L-type calcium channel Ca(V)1.2. This receptor-channel
            complex also contains a G protein, an adenylyl cyclase,
            cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A.
            The assembly of the signaling complex provides a mechanism that
            ensures specific and rapid signaling by this G protein-coupled
            receptor. This receptor is also a transcription regulator of the
            alpha-synuclein gene, and together, both genes are believed to be
            associated with risk of Parkinson's Disease. This gene is
            intronless. Different polymorphic forms, point mutations, and/or
            downregulation of this gene are associated with nocturnal asthma,
            obesity, type 2 diabetes and cardiovascular disease. [provided by
            RefSeq, Oct 2019].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2013
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..2013
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="adrenoceptor beta 2"
                     /db_xref="GeneID:154"
                     /db_xref="HGNC:HGNC:286"
                     /db_xref="MIM:109690"
     regulatory      121..180
                     /regulatory_class="uORF"
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:8308019]"
                     /note="regulatory uORF; this uORF encodes a 19 aa peptide
                     (PMID:8308019)"
     CDS             222..1463
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="catecholamine receptor; beta-2 adrenoceptor; beta-2
                     adrenoreceptor; adrenergic, beta-2-, receptor, surface;
                     adrenoceptor beta 2 surface"
                     /codon_start=1
                     /product="beta-2 adrenergic receptor"
                     /protein_id="NP_000015.2"
                     /db_xref="CCDS:CCDS4292.1"
                     /db_xref="GeneID:154"
                     /db_xref="HGNC:HGNC:286"
                     /db_xref="MIM:109690"
                     /translation="MGQPGNGSAFLLAPNGSHAPDHDVTQERDEVWVVGMGIVMSLIVL
                     AIVFGNVLVITAIAKFERLQTVTNYFITSLACADLVMGLAVVPFGAAHILMKMWTFGNF
                     WCEFWTSIDVLCVTASIETLCVIAVDRYFAITSPFKYQSLLTKNKARVIILMVWIVSGL
                     TSFLPIQMHWYRATHQEAINCYANETCCDFFTNQAYAIASSIVSFYVPLVIMVFVYSRV
                     FQEAKRQLQKIDKSEGRFHVQNLSQVEQDGRTGHGLRRSSKFCLKEHKALKTLGIIMGT
                     FTLCWLPFFIVNIVHVIQDNLIRKEVYILLNWIGYVNSGFNPLIYCRSPDFRIAFQELL
                     CLRRSSLKAYGNGYSSNGNTGEQSGYHVEQEKENKLLCEDLPGTEDFVGHQGTVPSDNI
                     DSQGRNCSTNDSLL"
     misc_feature    237..239
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P07550.3); glycosylation site"
     misc_feature    264..266
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P07550.3); glycosylation site"
     misc_feature    324..395
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P07550.3);
                     transmembrane region"
     misc_feature    435..506
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P07550.3);
                     transmembrane region"
     misc_feature    540..608
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P07550.3);
                     transmembrane region"
     misc_feature    642..644
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:8521811; propagated from
                     UniProtKB/Swiss-Prot (P07550.3); phosphorylation site"
     misc_feature    672..743
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P07550.3);
                     transmembrane region"
     misc_feature    810..881
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P07550.3);
                     transmembrane region"
     misc_feature    957..959
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (P07550.3); phosphorylation site"
     misc_feature    1002..1004
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="Phosphoserine, by PKA. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P07550.3);
                     phosphorylation site"
     misc_feature    1005..1007
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="Phosphoserine, by PKA. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P07550.3);
                     phosphorylation site"
     misc_feature    1044..1115
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P07550.3);
                     transmembrane region"
     misc_feature    1137..1208
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P07550.3);
                     transmembrane region"
     misc_feature    1254..1256
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:11146000; propagated from
                     UniProtKB/Swiss-Prot (P07550.3); phosphorylation site"
     misc_feature    1257..1259
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:11146000; propagated from
                     UniProtKB/Swiss-Prot (P07550.3); phosphorylation site"
     misc_feature    1284..1286
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="Phosphoserine, by BARK. /evidence=ECO:0000305;
                     propagated from UniProtKB/Swiss-Prot (P07550.3);
                     phosphorylation site"
     misc_feature    1287..1289
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="Phosphoserine, by BARK. /evidence=ECO:0000305;
                     propagated from UniProtKB/Swiss-Prot (P07550.3);
                     phosphorylation site"
     misc_feature    1365..1367
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:19584355; propagated from
                     UniProtKB/Swiss-Prot (P07550.3); hydroxylation site"
     misc_feature    1395..1460
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P07550.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1404..1406
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:19584355; propagated from
                     UniProtKB/Swiss-Prot (P07550.3); hydroxylation site"
     misc_feature    1449..1460
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P07550.3);
                     Region: PDZ-binding"
     regulatory      1995..2000
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="hexamer: AATAAA"
     polyA_site      2013
                     /gene="ADRB2"
                     /gene_synonym="ADRB2R; ADRBR; ARB2; B2AR; BAR; BETA2AR"
                     /note="major polyA site"
ORIGIN
        1 gcactgcgaa gcggcttctt cagagcacgg gctggaactg gcaggcaccg cgagccccta
       61 gcacccgaca agctgagtgt gcaggacgag tccccaccac acccacacca cagccgctga
      121 atgaggcttc caggcgtccg ctcgcggccc gcagagcccc gccgtgggtc cgcccgctga
      181 ggcgccccca gccagtgcgc tcacctgcca gactgcgcgc catggggcaa cccgggaacg
      241 gcagcgcctt cttgctggca cccaatggaa gccatgcgcc ggaccacgac gtcacgcagg
      301 aaagggacga ggtgtgggtg gtgggcatgg gcatcgtcat gtctctcatc gtcctggcca
      361 tcgtgtttgg caatgtgctg gtcatcacag ccattgccaa gttcgagcgt ctgcagacgg
      421 tcaccaacta cttcatcact tcactggcct gtgctgatct ggtcatgggc ctggcagtgg
      481 tgccctttgg ggccgcccat attcttatga aaatgtggac ttttggcaac ttctggtgcg
      541 agttttggac ttccattgat gtgctgtgcg tcacggccag cattgagacc ctgtgcgtga
      601 tcgcagtgga tcgctacttt gccattactt cacctttcaa gtaccagagc ctgctgacca
      661 agaataaggc ccgggtgatc attctgatgg tgtggattgt gtcaggcctt acctccttct
      721 tgcccattca gatgcactgg taccgggcca cccaccagga agccatcaac tgctatgcca
      781 atgagacctg ctgtgacttc ttcacgaacc aagcctatgc cattgcctct tccatcgtgt
      841 ccttctacgt tcccctggtg atcatggtct tcgtctactc cagggtcttt caggaggcca
      901 aaaggcagct ccagaagatt gacaaatctg agggccgctt ccatgtccag aaccttagcc
      961 aggtggagca ggatgggcgg acggggcatg gactccgcag atcttccaag ttctgcttga
     1021 aggagcacaa agccctcaag acgttaggca tcatcatggg cactttcacc ctctgctggc
     1081 tgcccttctt catcgttaac attgtgcatg tgatccagga taacctcatc cgtaaggaag
     1141 tttacatcct cctaaattgg ataggctatg tcaattctgg tttcaatccc cttatctact
     1201 gccggagccc agatttcagg attgccttcc aggagcttct gtgcctgcgc aggtcttctt
     1261 tgaaggccta tgggaatggc tactccagca acggcaacac aggggagcag agtggatatc
     1321 acgtggaaca ggagaaagaa aataaactgc tgtgtgaaga cctcccaggc acggaagact
     1381 ttgtgggcca tcaaggtact gtgcctagcg ataacattga ttcacaaggg aggaattgta
     1441 gtacaaatga ctcactgctg taaagcagtt tttctacttt taaagacccc cccccccaac
     1501 agaacactaa acagactatt taacttgagg gtaataaact tagaataaaa ttgtaaaatt
     1561 gtatagagat atgcagaagg aagggcatcc ttctgccttt tttatttttt taagctgtaa
     1621 aaagagagaa aacttatttg agtgattatt tgttatttgt acagttcagt tcctctttgc
     1681 atggaatttg taagtttatg tctaaagagc tttagtccta gaggacctga gtctgctata
     1741 ttttcatgac ttttccatgt atctacctca ctattcaagt attaggggta atatattgct
     1801 gctggtaatt tgtatctgaa ggagattttc cttcctacac ccttggactt gaggattttg
     1861 agtatctcgg acctttcagc tgtgaacatg gactcttccc ccactcctct tatttgctca
     1921 cacggggtat tttaggcagg gatttgagga gcagcttcag ttgttttccc gagcaaagtc
     1981 taaagtttac agtaaataaa ttgtttgacc atg
//
LOCUS       NM_000025               2585 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens adrenoceptor beta 3 (ADRB3), mRNA.
ACCESSION   NM_000025
VERSION     NM_000025.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2585)
  AUTHORS   Potocka N, Skrzypa M, Zadarko-Domaradzka M, Barabasz Z,
            Penar-Zadarko B, Sakowicz A, Zadarko E and Zawlik I.
  TITLE     Effects of the Trp64Arg Polymorphism in the ADRB3 Gene on Body
            Composition, Cardiorespiratory Fitness, and Physical Activity in
            Healthy Adults
  JOURNAL   Genes (Basel) 14 (8), 1541 (2023)
   PUBMED   37628593
  REMARK    GeneRIF: Effects of the Trp64Arg Polymorphism in the ADRB3 Gene on
            Body Composition, Cardiorespiratory Fitness, and Physical Activity
            in Healthy Adults. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2585)
  AUTHORS   Cammalleri M, Amato R, Dal Monte M, Filippi L and Bagnoli P.
  TITLE     The beta3 adrenoceptor in proliferative retinopathies: 'Cinderella'
            steps out of its family shadow
  JOURNAL   Pharmacol Res 190, 106713 (2023)
   PUBMED   36863427
  REMARK    GeneRIF: The beta3 adrenoceptor in proliferative retinopathies:
            'Cinderella' steps out of its family shadow. Review article
REFERENCE   3  (bases 1 to 2585)
  AUTHORS   Cannavo A, Jun S, Rengo G, Marzano F, Agrimi J, Liccardo D, Elia A,
            Keceli G, Altobelli GG, Marcucci L, Megighian A, Gao E, Feng N,
            Kammers K, Ferrara N, Finos L, Koch WJ and Paolocci N.
  TITLE     beta3AR-Dependent Brain-Derived Neurotrophic Factor (BDNF)
            Generation Limits Chronic Postischemic Heart Failure
  JOURNAL   Circ Res 132 (7), 867-881 (2023)
   PUBMED   36884028
  REMARK    GeneRIF: beta3AR-Dependent Brain-Derived Neurotrophic Factor (BDNF)
            Generation Limits Chronic Postischemic Heart Failure.
REFERENCE   4  (bases 1 to 2585)
  AUTHORS   Zhang JY, Zhao Q, Li XM, Liu F, Zhao Q, Men L, Chen QJ, Zhai H and
            Yang YN.
  TITLE     Association of an ADRB3 Variant with Coronary Artery Disease Within
            the Chinese Han Population: Construction of a Predictive Nomogram
            Model
  JOURNAL   Genet Test Mol Biomarkers 27 (3), 81-89 (2023)
   PUBMED   36989522
  REMARK    GeneRIF: Association of an ADRB3 Variant with Coronary Artery
            Disease Within the Chinese Han Population: Construction of a
            Predictive Nomogram Model.
REFERENCE   5  (bases 1 to 2585)
  AUTHORS   Chechekhin V, Ivanova A, Kulebyakin K, Sysoeva V, Naida D, Arbatsky
            M, Basalova N, Karagyaur M, Skryabina M, Efimenko A, Grigorieva O,
            Kalinina N, Tkachuk V and Tyurin-Kuzmin P.
  TITLE     Alpha1A- and Beta3-Adrenoceptors Interplay in Adipose Multipotent
            Mesenchymal Stromal Cells: A Novel Mechanism of Obesity-Driven
            Hypertension
  JOURNAL   Cells 12 (4), 585 (2023)
   PUBMED   36831252
  REMARK    GeneRIF: Alpha1A- and Beta3-Adrenoceptors Interplay in Adipose
            Multipotent Mesenchymal Stromal Cells: A Novel Mechanism of
            Obesity-Driven Hypertension. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2585)
  AUTHORS   Susulic VS, Frederich RC, Lawitts J, Tozzo E, Kahn BB, Harper ME,
            Himms-Hagen J, Flier JS and Lowell BB.
  TITLE     Targeted disruption of the beta 3-adrenergic receptor gene
  JOURNAL   J Biol Chem 270 (49), 29483-29492 (1995)
   PUBMED   7493988
REFERENCE   7  (bases 1 to 2585)
  AUTHORS   van Spronsen A, Nahmias C, Krief S, Briend-Sutren MM, Strosberg AD
            and Emorine LJ.
  TITLE     The promoter and intron/exon structure of the human and mouse beta
            3-adrenergic-receptor genes
  JOURNAL   Eur J Biochem 213 (3), 1117-1124 (1993)
   PUBMED   8389293
REFERENCE   8  (bases 1 to 2585)
  AUTHORS   Granneman JG, Lahners KN and Rao DD.
  TITLE     Rodent and human beta 3-adrenergic receptor genes contain an intron
            within the protein-coding block
  JOURNAL   Mol Pharmacol 42 (6), 964-970 (1992)
   PUBMED   1336117
REFERENCE   9  (bases 1 to 2585)
  AUTHORS   Nahmias C, Blin N, Elalouf JM, Mattei MG, Strosberg AD and Emorine
            LJ.
  TITLE     Molecular characterization of the mouse beta 3-adrenergic receptor:
            relationship with the atypical receptor of adipocytes
  JOURNAL   EMBO J 10 (12), 3721-3727 (1991)
   PUBMED   1718744
REFERENCE   10  (bases 1 to 2585)
  AUTHORS   Emorine LJ, Marullo S, Briend-Sutren MM, Patey G, Tate K,
            Delavier-Klutchko C and Strosberg AD.
  TITLE     Molecular characterization of the human beta 3-adrenergic receptor
  JOURNAL   Science 245 (4922), 1118-1121 (1989)
   PUBMED   2570461
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X70811.1, AK293033.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142348,
            SAMEA2142853 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000345060.5/ ENSP00000343782.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA904248.1, X70811.1,
            AC144573.2 and BQ024407.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 20, 2018 this sequence version replaced NM_000025.2.
            Summary: The protein encoded by this gene belongs to the family of
            beta adrenergic receptors, which mediate catecholamine-induced
            activation of adenylate cyclase through the action of G proteins.
            This receptor is located mainly in the adipose tissue and is
            involved in the regulation of lipolysis and thermogenesis. Obesity
            and bodyweight-related disorders are correlated with certain
            polymorphisms in three subtypes of beta-adrenoceptor, among them,
            the ADRB3 gene.[provided by RefSeq, Oct 2019].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2585
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.23"
     gene            1..2585
                     /gene="ADRB3"
                     /gene_synonym="BETA3AR"
                     /note="adrenoceptor beta 3"
                     /db_xref="GeneID:155"
                     /db_xref="HGNC:HGNC:288"
                     /db_xref="MIM:109691"
     misc_feature    74..76
                     /gene="ADRB3"
                     /gene_synonym="BETA3AR"
                     /note="upstream in-frame stop codon"
     CDS             131..1357
                     /gene="ADRB3"
                     /gene_synonym="BETA3AR"
                     /note="beta-3 adrenoceptor; beta-3 adrenoreceptor;
                     adrenergic, beta-3-, receptor"
                     /codon_start=1
                     /product="beta-3 adrenergic receptor"
                     /protein_id="NP_000016.1"
                     /db_xref="CCDS:CCDS6099.1"
                     /db_xref="GeneID:155"
                     /db_xref="HGNC:HGNC:288"
                     /db_xref="MIM:109691"
                     /translation="MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLA
                     LAVLATVGGNLLVIVAIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWP
                     LGATGCELWTSVDVLCVTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWV
                     VSAAVSFAPIMSQWWRVGADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLF
                     VYARVFVVATRQLRLLRGELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPAR
                     LLPLREHRALCTLGLIMGTFTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSA
                     FNPLIYCRSPDFRSAFRRLLCRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQR
                     LDGASWGVS"
     misc_feature    152..154
                     /gene="ADRB3"
                     /gene_synonym="BETA3AR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P13945.3); glycosylation site"
     misc_feature    206..208
                     /gene="ADRB3"
                     /gene_synonym="BETA3AR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P13945.3); glycosylation site"
     misc_feature    239..319
                     /gene="ADRB3"
                     /gene_synonym="BETA3AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13945.3);
                     transmembrane region"
     misc_feature    347..403
                     /gene="ADRB3"
                     /gene_synonym="BETA3AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13945.3);
                     transmembrane region"
     misc_feature    464..529
                     /gene="ADRB3"
                     /gene_synonym="BETA3AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13945.3);
                     transmembrane region"
     misc_feature    596..664
                     /gene="ADRB3"
                     /gene_synonym="BETA3AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13945.3);
                     transmembrane region"
     misc_feature    740..805
                     /gene="ADRB3"
                     /gene_synonym="BETA3AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13945.3);
                     transmembrane region"
     misc_feature    1007..1072
                     /gene="ADRB3"
                     /gene_synonym="BETA3AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13945.3);
                     transmembrane region"
     misc_feature    1109..1171
                     /gene="ADRB3"
                     /gene_synonym="BETA3AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13945.3);
                     transmembrane region"
     regulatory      1988..1993
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADRB3"
                     /gene_synonym="BETA3AR"
                     /note="hexamer: AATAAA"
     polyA_site      2012
                     /gene="ADRB3"
                     /gene_synonym="BETA3AR"
     regulatory      2561..2566
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADRB3"
                     /gene_synonym="BETA3AR"
                     /note="hexamer: AGTAAA"
     polyA_site      2585
                     /gene="ADRB3"
                     /gene_synonym="BETA3AR"
                     /note="major polyA site"
ORIGIN
        1 gggacagcta gagaagatgg cccaggctgg ggaagtcgct ctcatgcctt gctgtcccct
       61 cccctgagcc aggtgatttg ggagaccccc tccttccttc tttccctacc gccccacgcg
      121 cgacccgggg atggctccgt ggcctcacga gaacagctct cttgccccat ggccggacct
      181 ccccaccctg gcgcccaata ccgccaacac cagtgggctg ccaggggttc cgtgggaggc
      241 ggccctagcc ggggccctgc tggcgctggc ggtgctggcc accgtgggag gcaacctgct
      301 ggtcatcgtg gccatcgcct ggactccgag actccagacc atgaccaacg tgttcgtgac
      361 ttcgctggcc gcagccgacc tggtgatggg actcctggtg gtgccgccgg cggccacctt
      421 ggcgctgact ggccactggc cgttgggcgc cactggctgc gagctgtgga cctcggtgga
      481 cgtgctgtgt gtgaccgcca gcatcgaaac cctgtgcgcc ctggccgtgg accgctacct
      541 ggctgtgacc aacccgctgc gttacggcgc actggtcacc aagcgctgcg cccggacagc
      601 tgtggtcctg gtgtgggtcg tgtcggccgc ggtgtcgttt gcgcccatca tgagccagtg
      661 gtggcgcgta ggggccgacg ccgaggcgca gcgctgccac tccaacccgc gctgctgtgc
      721 cttcgcctcc aacatgccct acgtgctgct gtcctcctcc gtctccttct accttcctct
      781 tctcgtgatg ctcttcgtct acgcgcgggt tttcgtggtg gctacgcgcc agctgcgctt
      841 gctgcgcggg gagctgggcc gctttccgcc cgaggagtct ccgccggcgc cgtcgcgctc
      901 tctggccccg gccccggtgg ggacgtgcgc tccgcccgaa ggggtgcccg cctgcggccg
      961 gcggcccgcg cgcctcctgc ctctccggga acaccgggcc ctgtgcacct tgggtctcat
     1021 catgggcacc ttcactctct gctggttgcc cttctttctg gccaacgtgc tgcgcgccct
     1081 ggggggcccc tctctagtcc cgggcccggc tttccttgcc ctgaactggc taggttatgc
     1141 caattctgcc ttcaacccgc tcatctactg ccgcagcccg gactttcgca gcgccttccg
     1201 ccgtcttctg tgccgctgcg gccgtcgcct gcctccggag ccctgcgccg ccgcccgccc
     1261 ggccctcttc ccctcgggcg ttcctgcggc ccggagcagc ccagcgcagc ccaggctttg
     1321 ccaacggctc gacggggctt cttggggagt ttcttaggcc tgaaggacaa gaagcaacaa
     1381 ctctgttgat cagaacctgt ggaaaacctc tggcctctgt tcagaatgag tcccatggga
     1441 ttccccggct gtgacactct accctccaga acctgacgac tgggccatgt gacccaagga
     1501 gggatcctta ccaagtgggt tttcaccatc ctcttgctct ctgtctgaga gatgttttct
     1561 aaaccccagc cttgaacttc actcctccct cagtggtagt gtccaggtgc cgtggagcag
     1621 caggctggct ttggtagggg cacccatcac ccggcttgcc tgtgcagtca gtgagtgctt
     1681 agggcaaaga gagctcccct ggttccattc cttctgccac ccaaaccctg atgagacctt
     1741 agtgttctcc aggctctgtg gcccaggctg agagcagcag ggtagaaaag accaagattt
     1801 ggggttttat ctctggttcc cttattactg ctctcaagca gtggcctctc tcactttagc
     1861 catggaatgg ctccgatcta cctcacagca gtgtcagaag gacttcgcca gggttttggg
     1921 agctccaggg ttcataagaa ggtgaaccat tagaacagat cccttctttt ccttttgcaa
     1981 tcagataaat aaatatcact gaatgcagtt catcctcggc cccctttccc tccgtttgtt
     2041 ttcttttcat aatccactta ctcccttccc ttctactctg cgctggcttt tgacagaggc
     2101 agtaaattag gcctaatcct cactcttttc ttcctaatct tcatcaaaca aaaaatgaaa
     2161 agtctgtctg gacgaagggg agtgagcttg agcctttgat atcttgctcc cccacccttc
     2221 ctgaaactct tgaaatccag ttgccattga gtagcaaagc cacgctcccc acaggacttg
     2281 gacagagggc ccacaggggg atgggctggc tgtggccagg tttagggcag ggggcatttg
     2341 tcccctccat gctataatcc agtggtgcct tacatggtgt gtgtgtgtgt gtgtgcgtgt
     2401 gtgtgtgtgt gtgtgtgtct ggaggcacag gcacaaagca ttgcttgggt tggtcaaatg
     2461 tcttgtgtca taaatatatt ctgatgtttc ccagcctttc cacaacctct accttcccac
     2521 tcaccttccc cagctacaaa aatctgtatt atcctcttaa agtaaaactg gagttacaaa
     2581 tttga
//
LOCUS       NM_000026               4359 bp    mRNA    linear   PRI 05-JUL-2023
DEFINITION  Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1,
            mRNA.
ACCESSION   NM_000026
VERSION     NM_000026.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4359)
  AUTHORS   Zurlo G, Liu X, Takada M, Fan C, Simon JM, Ptacek TS, Rodriguez J,
            von Kriegsheim A, Liu J, Locasale JW, Robinson A, Zhang J, Holler
            JM, Kim B, Zikanova M, Bierau J, Xie L, Chen X, Li M, Perou CM and
            Zhang Q.
  TITLE     Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic
            driver in triple negative breast cancer
  JOURNAL   Nat Commun 10 (1), 5177 (2019)
   PUBMED   31729379
  REMARK    GeneRIF: Adenylosuccinate lyase (ADSL) is an EglN2 hydroxylase
            substrate in triple negative breast cancer. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 4359)
  AUTHORS   Van Laer B, Kapp U, Soler-Lopez M, Moczulska K, Paabo S, Leonard G
            and Mueller-Dieckmann C.
  TITLE     Molecular comparison of Neanderthal and Modern Human
            adenylosuccinate lyase
  JOURNAL   Sci Rep 8 (1), 18008 (2018)
   PUBMED   30573755
  REMARK    GeneRIF: ADSL undergoes conformational changes during catalysis
            which, together with the crystal structure of a hitherto
            undetermined product bound conformation, explains the molecular
            origin of disease for several modern human ADSL mutants. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 4359)
  AUTHORS   Park H, Ohshima K, Nojima S, Tahara S, Kurashige M, Hori Y, Okuzaki
            D, Wada N, Ikeda JI and Morii E.
  TITLE     Adenylosuccinate lyase enhances aggressiveness of endometrial cancer
            by increasing killer cell lectin-like receptor C3 expression by
            fumarate
  JOURNAL   Lab Invest 98 (4), 449-461 (2018)
   PUBMED   29467457
  REMARK    GeneRIF: involved in endometrial cancer aggressiveness by regulating
            expression of killer cell lectin-like receptor C3
REFERENCE   4  (bases 1 to 4359)
  AUTHORS   Baresova V, Krijt M, Skopova V, Souckova O, Kmoch S and Zikanova M.
  TITLE     CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa
            cells result in accumulation of individual enzyme substrates and
            affect purinosome formation
  JOURNAL   Mol Genet Metab 119 (3), 270-277 (2016)
   PUBMED   27590927
REFERENCE   5  (bases 1 to 4359)
  AUTHORS   Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M,
            Rodriguez M, Tam S, Wanamaker SA, Fan C, Yi S, Tasan M, Lemmens I,
            Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA,
            Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat
            J, Hill DE, Hao T, Vidal M and Iakoucheva LM.
  TITLE     Protein interaction network of alternatively spliced isoforms from
            brain links genetic risk factors for autism
  JOURNAL   Nat Commun 5, 3650 (2014)
   PUBMED   24722188
  REMARK    Erratum:[Nat Commun. 2023 Feb 2;14(1):569. PMID: 36732511]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4359)
  AUTHORS   Kmoch S, Hartmannova H, Stiburkova B, Krijt J, Zikanova M and
            Sebesta I.
  TITLE     Human adenylosuccinate lyase (ADSL), cloning and characterization of
            full-length cDNA and its isoform, gene structure and molecular basis
            for ADSL deficiency in six patients
  JOURNAL   Hum Mol Genet 9 (10), 1501-1513 (2000)
   PUBMED   10888601
REFERENCE   7  (bases 1 to 4359)
  AUTHORS   Stone RL, Zalkin H and Dixon JE.
  TITLE     Expression, purification, and kinetic characterization of
            recombinant human adenylosuccinate lyase
  JOURNAL   J Biol Chem 268 (26), 19710-19716 (1993)
   PUBMED   8366112
REFERENCE   8  (bases 1 to 4359)
  AUTHORS   Fon EA, Demczuk S, Delattre O, Thomas G and Rouleau GA.
  TITLE     Mapping of the human adenylosuccinate lyase (ADSL) gene to
            chromosome 22q13.1-->q13.2
  JOURNAL   Cytogenet Cell Genet 64 (3-4), 201-203 (1993)
   PUBMED   8404037
REFERENCE   9  (bases 1 to 4359)
  AUTHORS   Stone RL, Aimi J, Barshop BA, Jaeken J, Van den Berghe G, Zalkin H
            and Dixon JE.
  TITLE     A mutation in adenylosuccinate lyase associated with mental
            retardation and autistic features
  JOURNAL   Nat Genet 1 (1), 59-63 (1992)
   PUBMED   1302001
REFERENCE   10  (bases 1 to 4359)
  AUTHORS   Zalkin H and Dixon JE.
  TITLE     De novo purine nucleotide biosynthesis
  JOURNAL   Prog Nucleic Acid Res Mol Biol 42, 259-287 (1992)
   PUBMED   1574589
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.159227.1,
            SRR3476690.212230.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000623063.3/ ENSP00000485525.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP298407.1, AF067853.1,
            BG187609.1 and AL022238.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 20, 2018 this sequence version replaced NM_000026.3.
            Summary: The protein encoded by this gene belongs to the lyase 1
            family. It is an essential enzyme involved in purine metabolism,
            and catalyzes two non-sequential reactions in the de novo purine
            biosynthetic pathway: the conversion of succinylaminoimidazole
            carboxamide ribotide (SAICAR) to aminoimidazole carboxamide
            ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to
            adenosine monophosphate (AMP). Mutations in this gene are
            associated with adenylosuccinase deficiency (ADSLD), a disorder
            marked with psychomotor retardation, epilepsy or autistic features.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Dec 2015].
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes the longest isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4359
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     gene            1..4359
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /note="adenylosuccinate lyase"
                     /db_xref="GeneID:158"
                     /db_xref="HGNC:HGNC:291"
                     /db_xref="MIM:608222"
     CDS             60..1514
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /EC_number="4.3.2.2"
                     /note="isoform a is encoded by transcript variant 1;
                     adenylosuccinase"
                     /codon_start=1
                     /product="adenylosuccinate lyase isoform a"
                     /protein_id="NP_000017.1"
                     /db_xref="CCDS:CCDS14001.1"
                     /db_xref="GeneID:158"
                     /db_xref="HGNC:HGNC:291"
                     /db_xref="MIM:608222"
                     /translation="MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLW
                     LAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEEEKRLRHDVMAHVHTFGHCCPKAAG
                     IIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHFQPA
                     QLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQL
                     DKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEP
                     FEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQTASVQWFERTLDDSANRRIC
                     LAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDC
                     HEKIRVLSQQAASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQ
                     RFLEEEVYPLLKPYESVMKVKAELCL"
     misc_feature    63..65
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.8;
                     propagated from UniProtKB/Swiss-Prot (P30566.2);
                     acetylation site"
     misc_feature    498..500
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P30566.2); acetylation site"
     misc_feature    942..944
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P30566.2); acetylation site"
     regulatory      1527..1532
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /note="hexamer: ATTAAA"
     polyA_site      1565
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /note="major polyA site"
     polyA_site      1638
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
     regulatory      1719..1724
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /note="hexamer: AGTAAA"
     polyA_site      1740
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
     regulatory      2853..2858
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /note="hexamer: AATAAA"
     polyA_site      2873
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
     polyA_site      4359
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
ORIGIN
        1 aggtttccgc ttccgctctt ccctggtcca gtccaccctg gcggggtcgc agggttggga
       61 tggcggctgg aggcgatcat ggttcgcccg acagctaccg ctcacctctt gcctcccgct
      121 atgccagccc ggagatgtgc ttcgtgttta gcgacaggta taaattccgg acatggcggc
      181 agctgtggct gtggctggcg gaggccgagc agacattggg tttgcctatc acagatgaac
      241 aaatccagga gatgaaatca aacctggaga acatcgactt caagatggca gctgaggaag
      301 agaaacgttt acgacatgat gtgatggctc acgtgcacac atttggccac tgctgtccaa
      361 aagctgcagg cattattcac cttggtgcta cttcttgcta tgttggagac aatactgact
      421 tgattattct tagaaatgca cttgacctgc ttttgccaaa gcttgccaga gtgatctctc
      481 ggcttgccga ctttgctaag gaacgagcca gtctacccac attaggtttc acacatttcc
      541 agcctgcaca gctgaccaca gttgggaaac gttgctgtct ttggattcag gatctttgca
      601 tggatctcca gaacttgaag cgtgtccgag atgacctgcg cttccgggga gtaaagggta
      661 ccactggcac tcaggccagt ttcctgcagc tctttgaggg agatgaccat aaggtagagc
      721 agcttgacaa gatggtgaca gaaaaggcag gatttaagag agctttcatc atcacagggc
      781 agacatatac acgaaaagtg gatattgaag tactgtctgt gctggctagc ttgggggcat
      841 cagtgcacaa gatttgcacc gacatacgcc tcctggcaaa cctcaaggag atggaggaac
      901 cctttgaaaa acagcagatt ggctcaagtg cgatgccata taagcggaat cccatgcgtt
      961 cagaacgttg ctgcagtctt gcccgccacc tgatgaccct tgtcatggac ccgctacaga
     1021 cagcatctgt ccagtggttt gaacgcacac tggatgatag tgccaaccga cggatctgtt
     1081 tggccgaggc atttcttacc gcagatacta tattgaatac gctgcagaac atttctgaag
     1141 gattggtcgt gtaccccaaa gtaattgaac ggcgcattcg gcaagagctg cctttcatgg
     1201 ccacagagaa catcatcatg gccatggtca aagctggagg tagccgccag gattgccatg
     1261 agaaaatcag agtgctttct cagcaggcag cttctgtggt taagcaggaa gggggtgaca
     1321 atgacctcat agagcgtatc caggttgatg cctacttcag tcccattcac tcccagttgg
     1381 atcatttact ggatccttct tctttcactg gtcgtgcctc ccagcaggtg cagagattct
     1441 tagaagagga ggtgtatccc ctgttaaaac catatgaaag cgtgatgaag gtgaaagcag
     1501 aattatgtct gtagagttgg aagagaatta aacgaaaatc attgttaatt gctgaggcat
     1561 gaaaattgtg ttactataat gccttatttt acctcgagaa ttgttacctt aaattagtac
     1621 agcactttct tcttcccatg gtgctttcct gtttctcagt ctcacatttc tcaacaaggc
     1681 aaaaacaaag agcgttgaag ttgactctgc tcttgcatag taaatgtagt tcatacttga
     1741 tctctgttct ttcaaggcat attttccagc tgcctcaagt ttagtccttt tcacgtgttc
     1801 atttgcttgt aaagtagcaa gaaatttctg gtcctgtctt ctaaaagtga atttgatcta
     1861 ggtctagcaa aataacctgg actcagtgat tgagtcaatg gtcagatacc ttttatttcg
     1921 gttatttttg gctagtataa gtgatgaagt ttggaactac agtaaatact taaaaaaaaa
     1981 aaaaaaaaga accaaaccct gatgtgacca tcaggctgat tgagctgaag ttgtgcccaa
     2041 gctcatttca tcttttgata aggcttatac agcagggaaa tgctaattga gtatattgat
     2101 ttcatcaggg ccgctgacag tctttattcc ttgttgcatg gattttgttg ttgaggcttg
     2161 ctctgtcacc cagactagag tgcagtagca caatcttggc tcactgcaac ctccgcctct
     2221 caggttcaag cgattctcca gcctcagcct cccaagtagc tgggattaca ggcgcctgcc
     2281 gccatgcctg gctaattttt gtatttttag acgggatgga gttttgccat gttgggcggg
     2341 ctggtcttga actcctgacc tcaagtgatc cgcccatctc agcctcccaa agttctggga
     2401 ttatagacat gagccaccac acccagccta atcttgtttt ctttttttac ttgtttacag
     2461 tgtaagcaag tgccattgga caagaacgtt gtctgtgtca ttccttgttg tatttccaat
     2521 agcaagagca catcagatac ttggcaacta ggcagtcttc cagcttctgc cactgcgccc
     2581 gacttccttg ttgcatggat ttatagctga ttgaagcaac tgtagccaaa gattgagtta
     2641 attacctacc tgccaggaga gcactagtgt tatttagccc attctcatcc tacatatttt
     2701 tcggcataga tgaaaatgaa agcttttgtt tatcagattt gcagatgaca caaaactggg
     2761 agaattaaca agtatgttta tttggtaaaa taagttttca tctctaacct aaatcggctg
     2821 aaatgatgtg tcctaaacta gaggaaaaag ttaataaaga tcaatgtaaa taagttaatc
     2881 ttaaactcag tatgcaccag aactgagaga agactgtttt aggaggtgtt aatggttgtc
     2941 cagtgcccaa aaagccacca gaggcttact gctccgcact cttggcatta cattcaattt
     3001 tggataccca gtctgaggaa tagagatgaa ctggagagcc aacctccaaa aagatcttgt
     3061 ggtggaggaa tgttagggct ctttatccta tacagaagaa aactcctcgg cacttcaaat
     3121 attgccaggt gcaggaagag tgacttgatt gtgtgttgcc ccaagagaca cactgagctc
     3181 aatacccatt actgagactg gcttggggcc agacattgga accactgaga ttagcaacct
     3241 acactcaatc ccccaggtca ggcagaagct ggaagactgc ctcgttagga atgttgtgag
     3301 ggagaggagg ctgaatcggt tccagtttta tttaaaagta gccaggaaat caggttgcga
     3361 tgatgcgcat ttacagtccc agctacttgg gaagctgagg cgatagggtc acttgagccc
     3421 aagagtttag tccaggctgg gtgacagcga gcccttgtca cttaaagcca acctaagaga
     3481 agagcttatc cttttggaaa aacaatagaa gacaattctg aaaaccaaat tctgaacata
     3541 ggctagtata gcaagcaagc agggatagca tagagccatt tgctcaactt ccagaaagag
     3601 ttactctgtt catctctaaa aaatcttgaa aagggccggg tgcggtggtg gctcacgcct
     3661 gtaatcccaa cactttggga ggccgaggca ggtggatcac ctgaggtcag gagttcgaga
     3721 ccagcttgac cgacaaggtg aaactccgtc tctactaaaa atacaatcaa ccgggcgtgg
     3781 tggcaggcgc ctatagtccc agctacttgg gaggctgaga caggagaatt gcttgaacct
     3841 gggaggcaga agttgcagtg agccaagatc atgccactgt actccagcct gggcaacgga
     3901 gcgagactcc atctgaaaaa acaaaacaga aaaaatcttg aaaggatact aagtctgaca
     3961 caaggaaatt aagtcatggg actctgacca gatattctgt ctacttcctt ctctgctatg
     4021 ggcaacttgg aggcagcaac tactatcagt ttatctgtaa tgtgagaatt tatattacat
     4081 aacagatact ggggatatag gataccatgg attttagtta atacatttcc tcatagaaaa
     4141 taaggaaata acagtcttgt tcctgtccta acaattctgt tagactaatg atctccagtg
     4201 attggcgatt tgacctggtt tcttcctgga ctatttgaat gggtggattt gttggtgcat
     4261 ctcttgtctt ctttcctttt ccattctcct ttatttttgt atttacatac ttgtatgcaa
     4321 ctttgtaatc tgattttccc atgtaacatt ttaatttga
//
LOCUS       NM_000027               2037 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1,
            mRNA.
ACCESSION   NM_000027
VERSION     NM_000027.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2037)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2037)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2037)
  AUTHORS   Pande S and Guo HC.
  TITLE     The T99K variant of glycosylasparaginase shows a new structural
            mechanism of the genetic disease aspartylglucosaminuria
  JOURNAL   Protein Sci 28 (6), 1013-1023 (2019)
   PUBMED   30901125
  REMARK    GeneRIF: T99K variant of glycosylasparaginase shows a new structural
            mechanism of the genetic disease aspartylglucosaminuria
REFERENCE   4  (bases 1 to 2037)
  AUTHORS   Saarela J, Oinonen C, Jalanko A, Rouvinen J and Peltonen L.
  TITLE     Autoproteolytic activation of human aspartylglucosaminidase
  JOURNAL   Biochem J 378 (Pt 2), 363-371 (2004)
   PUBMED   14616088
  REMARK    GeneRIF: Molecular mechanism for the autoproteolytic activation of
            aspartylglucosaminidase.
REFERENCE   5  (bases 1 to 2037)
  AUTHORS   Rip JW, Coulter-Mackie MB, Rupar CA and Gordon BA.
  TITLE     Purification and structure of human liver aspartylglucosaminidase
  JOURNAL   Biochem J 288 (Pt 3) (Pt 3), 1005-1010 (1992)
   PUBMED   1281977
REFERENCE   6  (bases 1 to 2037)
  AUTHORS   Ikonen E and Peltonen L.
  TITLE     Mutations causing aspartylglucosaminuria (AGU): a lysosomal
            accumulation disease
  JOURNAL   Hum Mutat 1 (5), 361-365 (1992)
   PUBMED   1301945
  REMARK    Review article
REFERENCE   7  (bases 1 to 2037)
  AUTHORS   Park H, Fisher KJ and Aronson NN Jr.
  TITLE     Genomic structure of human lysosomal glycosylasparaginase
  JOURNAL   FEBS Lett 288 (1-2), 168-172 (1991)
   PUBMED   1840528
REFERENCE   8  (bases 1 to 2037)
  AUTHORS   Fisher KJ and Aronson NN Jr.
  TITLE     Characterization of the mutation responsible for
            aspartylglucosaminuria in three Finnish patients. Amino acid
            substitution Cys163----Ser abolishes the activity of lysosomal
            glycosylasparaginase and its conversion into subunits
  JOURNAL   J Biol Chem 266 (18), 12105-12113 (1991)
   PUBMED   1904874
REFERENCE   9  (bases 1 to 2037)
  AUTHORS   Mononen I, Heisterkamp N, Kaartinen V, Williams JC, Yates JR 3rd,
            Griffin PR, Hood LE and Groffen J.
  TITLE     Aspartylglycosaminuria in the Finnish population: identification of
            two point mutations in the heavy chain of glycoasparaginase
  JOURNAL   Proc Natl Acad Sci U S A 88 (7), 2941-2945 (1991)
   PUBMED   2011603
REFERENCE   10  (bases 1 to 2037)
  AUTHORS   Fisher KJ, Tollersrud OK and Aronson NN Jr.
  TITLE     Cloning and sequence analysis of a cDNA for human
            glycosylasparaginase. A single gene encodes the subunits of this
            lysosomal amidase
  JOURNAL   FEBS Lett 269 (2), 440-444 (1990)
   PUBMED   2401370
  REMARK    Erratum:[FEBS Lett 1990 Dec 10;276(1-2):232]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.973824.1,
            SRR1803612.248008.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000264595.7/ ENSP00000264595.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA346002.1, BC012392.1,
            AW467768.1, AC027627.6 and BM968469.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 20, 2018 this sequence version replaced NM_000027.3.
            Summary: This gene encodes a member of the N-terminal nucleophile
            (Ntn) hydrolase family of proteins. The encoded preproprotein is
            proteolytically processed to generate alpha and beta chains that
            comprise the mature enzyme. This enzyme is involved in the
            catabolism of N-linked oligosaccharides of glycoproteins. It
            cleaves asparagine from N-acetylglucosamines as one of the final
            steps in the lysosomal breakdown of glycoproteins. Mutations in
            this gene are associated with the lysosomal storage disease
            aspartylglycosaminuria that results in progressive
            neurodegeneration. Alternative splicing results in multiple
            transcript variants, at least one of which encodes an isoform that
            is subject to proteolytic processing. [provided by RefSeq, Nov
            2015].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2037
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q34.3"
     gene            1..2037
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /note="aspartylglucosaminidase"
                     /db_xref="GeneID:175"
                     /db_xref="HGNC:HGNC:318"
                     /db_xref="MIM:613228"
     CDS             63..1103
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /EC_number="3.5.1.26"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase;
                     glycosylasparaginase;
                     N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase;
                     aspartylglucosylamine deaspartylase"
                     /codon_start=1
                     /product="N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
                     isoform 1 preproprotein"
                     /protein_id="NP_000018.2"
                     /db_xref="CCDS:CCDS3829.1"
                     /db_xref="GeneID:175"
                     /db_xref="HGNC:HGNC:318"
                     /db_xref="MIM:613228"
                     /translation="MARKSNLPVLLVPFLLCQALVRCSSPLPLVVNTWPFKNATEAAWR
                     ALASGGSALDAVESGCAMCEREQCDGSVGFGGSPDELGETTLDAMIMDGTTMDVGAVGD
                     LRRIKNAIGVARKVLEHTTHTLLVGESATTFAQSMGFINEDLSTTASQALHSDWLARNC
                     QPNYWRNVIPDPSKYCGPYKPPGILKQDIPIHKETEDDRGHDTIGMVVIHKTGHIAAGT
                     STNGIKFKIHGRVGDSPIPGAGAYADDTAGAAAATGNGDILMRFLPSYQAVEYMRRGED
                     PTIACQKVISRIQKHFPEFFGAVICANVTGSYGAACNKLSTFTQFSFMVYNSEKNQPTE
                     EKVDCI"
     sig_peptide     63..131
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     132..677
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /product="Glycosylasparaginase alpha chain.
                     /id=PRO_0000002333"
                     /note="propagated from UniProtKB/Swiss-Prot (P20933.2)"
     misc_feature    132..134
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /note="Blocked amino end (Ser); propagated from
                     UniProtKB/Swiss-Prot (P20933.2); blocked site"
     misc_feature    174..176
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:1281977,
                     ECO:0000269|PubMed:2401370, ECO:0000269|PubMed:8846222,
                     ECO:0007744|PDB:1APY, ECO:0007744|PDB:1APZ; propagated from
                     UniProtKB/Swiss-Prot (P20933.2); glycosylation site"
     mat_peptide     678..1100
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /product="Glycosylasparaginase beta chain.
                     /id=PRO_0000002334"
                     /note="propagated from UniProtKB/Swiss-Prot (P20933.2)"
     misc_feature    984..986
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:8846222, ECO:0007744|PDB:1APY,
                     ECO:0007744|PDB:1APZ; propagated from UniProtKB/Swiss-Prot
                     (P20933.2); glycosylation site"
     regulatory      1226..1231
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /note="hexamer: AATAAA"
     polyA_site      1248
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /note="major polyA site"
     regulatory      2011..2016
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /note="hexamer: AATAAA"
     polyA_site      2037
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /note="major polyA site"
ORIGIN
        1 aattgttcgg cgatcgctgg ctgccgggac ttttctcgcg ctggtctctt cggtggtcag
       61 ggatggcgcg gaagtcgaac ttgcctgtgc ttctcgtgcc gtttctgctc tgccaggccc
      121 tagtgcgctg ctccagccct ctgcccctgg tcgtcaacac ttggcccttt aagaatgcaa
      181 ccgaagcagc gtggagggca ttagcatctg gaggctctgc cctggatgca gtggagagcg
      241 gctgtgccat gtgtgagaga gagcagtgtg acggctctgt aggctttgga ggaagtcctg
      301 atgaacttgg agaaaccaca ctagatgcca tgatcatgga tggcactact atggatgtag
      361 gagcagtagg agatctcaga cgaattaaaa atgctattgg tgtggcacgg aaagtactgg
      421 aacatacaac acacacactt ttagtaggag agtcagccac cacatttgct caaagtatgg
      481 ggtttatcaa tgaagactta tctaccactg cttctcaagc tcttcattca gattggcttg
      541 ctcggaattg ccagccaaat tattggagga atgttatacc agatccctca aaatactgcg
      601 gaccctacaa accacctggt atcttaaagc aggatattcc tatccataaa gaaacagaag
      661 atgatcgtgg tcatgacact attggcatgg ttgtaatcca taagacagga catattgctg
      721 ctggtacatc tacaaatggt ataaaattca aaatacatgg ccgtgtagga gactcaccaa
      781 tacctggagc tggagcctat gctgacgata ctgcaggggc agccgcagcc actgggaatg
      841 gtgatatatt gatgcgcttc ctgccaagct accaagctgt agaatacatg agaagaggag
      901 aagatccaac catagcttgc caaaaagtga tttcaagaat ccagaagcat tttccagaat
      961 tctttggggc tgttatatgt gccaatgtga ctggaagtta cggtgctgct tgcaataaac
     1021 tttcaacatt tactcagttt agtttcatgg tttataattc cgaaaaaaat cagccaactg
     1081 aggaaaaagt ggactgcatc taatccatct ttactgtcaa catctgtatt taaagaagaa
     1141 agaaacaaag gctgaaaagg ctgctcactc tcatcatcta gtgttcctca tgtgttctaa
     1201 agtctttttg taaaataaac acaaaaataa atttatgttg aattggcact ttctatatct
     1261 gaaattgtat tatctatttt tatttaacct ttcttatatt atctgaagat gaatatgtat
     1321 gtggctgtat tttgtatata tttaagtttt aagtgacact tggatttctg atcagtgttg
     1381 caaaaaattg ctactttgag atttatttcc acagtgatat attaaaccca aaaggaatca
     1441 tcatatttgg atgcttaaaa tagagtatac aagtttttta gacccaaaga aaaaaacagc
     1501 agagtctcag catgatcagt cctgattgaa tttcattatg tcacagtgat gcatgtctta
     1561 gcactgatta ttggttttac ttaatattcc ctaaaaactt gaggaaggaa gatgatagaa
     1621 catgagatac tctttgtttt gtacatacta gaaaatacag ctatcttctg atgagcaatt
     1681 gtgttgattt tctttgcttt tttcctctta tggagctctc agtgtgtgaa agttctaaag
     1741 ccacaagaat caatgatgtt ttagctgcta atatttagta ttgatcgttt cttttaaaaa
     1801 tgatttgggg aacttgatct gtactgtaat tttactaatt ccttgtgcag aggtgggtat
     1861 ggcaattaga agtcaagaaa tgggttgttt agcttggttt gtttccctaa cttctgatta
     1921 actctctgta tgacaactct acagaagttg tgcgcgtgct ttctcagcag catttttcct
     1981 tcaaaatcat ctttttaatc aacagtcatt aataaatgta catgtacgat attcaaa
//
LOCUS       NM_000030               2900 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens alanine--glyoxylate aminotransferase (AGXT), mRNA.
ACCESSION   NM_000030
VERSION     NM_000030.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2900)
  AUTHORS   Ahmed HA, Fadel FI, Abdel Mawla MA, Salah DM, Fathallah MG and Amr
            K.
  TITLE     Next-generation sequencing in identification of pathogenic variants
            in primary hyperoxaluria among 21 Egyptian families: Identification
            of two novel AGXT gene mutations
  JOURNAL   Mol Genet Genomic Med 10 (8), e1992 (2022)
   PUBMED   35661454
  REMARK    GeneRIF: Next-generation sequencing in identification of pathogenic
            variants in primary hyperoxaluria among 21 Egyptian families:
            Identification of two novel AGXT gene mutations.
REFERENCE   2  (bases 1 to 2900)
  AUTHORS   Zhao Y, Li Y, Fang X, He L, Fan Y, Geng H and Wu J.
  TITLE     Extended genetic analysis of exome sequencing for primary
            hyperoxaluria in pediatric urolithiasis patients with hyperoxaluria
  JOURNAL   Gene 815, 146155 (2022)
   PUBMED   34995728
  REMARK    GeneRIF: Extended genetic analysis of exome sequencing for primary
            hyperoxaluria in pediatric urolithiasis patients with hyperoxaluria.
REFERENCE   3  (bases 1 to 2900)
  AUTHORS   Catarata MJ, Lourenco M, Martins MF, Frade J, Pego A, Cordeiro CR,
            Medeiros R and Ribeiro R.
  TITLE     Pharmacogenetics of advanced lung cancer: Predictive value of
            functional genetic polymorphism AGXT Pro11Leu in clinical outcome?
  JOURNAL   Pulmonology 27 (2), 116-123 (2021)
   PUBMED   33408043
  REMARK    GeneRIF: Pharmacogenetics of advanced lung cancer: Predictive value
            of functional genetic polymorphism AGXT Pro11Leu in clinical
            outcome?
REFERENCE   4  (bases 1 to 2900)
  AUTHORS   Dindo M, Mandrile G, Conter C, Montone R, Giachino D, Pelle A,
            Costantini C and Cellini B.
  TITLE     The ILE56 mutation on different genetic backgrounds of
            alanine:glyoxylate aminotransferase: Clinical features and
            biochemical characterization
  JOURNAL   Mol Genet Metab 131 (1-2), 171-180 (2020)
   PUBMED   32792227
  REMARK    GeneRIF: The ILE56 mutation on different genetic backgrounds of
            alanine:glyoxylate aminotransferase: Clinical features and
            biochemical characterization.
REFERENCE   5  (bases 1 to 2900)
  AUTHORS   Danpure CJ, Fryer P, Jennings PR, Allsop J, Griffiths S and
            Cunningham A.
  TITLE     Evolution of alanine:glyoxylate aminotransferase 1 peroxisomal and
            mitochondrial targeting. A survey of its subcellular distribution in
            the livers of various representatives of the classes Mammalia, Aves
            and Amphibia
  JOURNAL   Eur J Cell Biol 64 (2), 295-313 (1994)
   PUBMED   7813517
REFERENCE   6  (bases 1 to 2900)
  AUTHORS   Milliner,D.S., Harris,P.C., Sas,D.J., Cogal,A.G. and Lieske,J.C.
  TITLE     Primary Hyperoxaluria Type 1
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301460
REFERENCE   7  (bases 1 to 2900)
  AUTHORS   Minatogawa Y, Tone S, Allsop J, Purdue PE, Takada Y, Danpur CJ and
            Kido R.
  TITLE     A serine-to-phenylalanine substitution leads to loss of
            alanine:glyoxylate aminotransferase catalytic activity and
            immunoreactivity in a patient with primary hyperoxaluria type 1
  JOURNAL   Hum Mol Genet 1 (8), 643-644 (1992)
   PUBMED   1301173
REFERENCE   8  (bases 1 to 2900)
  AUTHORS   Purdue PE, Lumb MJ, Allsop J, Minatogawa Y and Danpure CJ.
  TITLE     A glycine-to-glutamate substitution abolishes alanine:glyoxylate
            aminotransferase catalytic activity in a subset of patients with
            primary hyperoxaluria type 1
  JOURNAL   Genomics 13 (1), 215-218 (1992)
   PUBMED   1349575
REFERENCE   9  (bases 1 to 2900)
  AUTHORS   Purdue PE, Allsop J, Isaya G, Rosenberg LE and Danpure CJ.
  TITLE     Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to
            mitochondria in primary hyperoxaluria patients depends upon
            activation of a cryptic mitochondrial targeting sequence by a point
            mutation
  JOURNAL   Proc Natl Acad Sci U S A 88 (23), 10900-10904 (1991)
   PUBMED   1961759
REFERENCE   10  (bases 1 to 2900)
  AUTHORS   Purdue PE, Takada Y and Danpure CJ.
  TITLE     Identification of mutations associated with
            peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate
            aminotransferase in primary hyperoxaluria type 1
  JOURNAL   J Cell Biol 111 (6 Pt 1), 2341-2351 (1990)
   PUBMED   1703535
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK292754.1, X53414.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000307503.4/ ENSP00000302620.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X53414.1, AA857309.1,
            CB156891.1 and AC104809.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 20, 2018 this sequence version replaced NM_000030.2.
            Summary: This gene is expressed only in the liver and the encoded
            protein is localized mostly in the peroxisomes, where it is
            involved in glyoxylate detoxification. Mutations in this gene, some
            of which alter subcellular targetting, have been associated with
            type I primary hyperoxaluria. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2900
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     gene            1..2900
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT; SPT;
                     TLH6"
                     /note="alanine--glyoxylate aminotransferase"
                     /db_xref="GeneID:189"
                     /db_xref="HGNC:HGNC:341"
                     /db_xref="MIM:604285"
     CDS             43..1221
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT; SPT;
                     TLH6"
                     /EC_number="2.6.1.44"
                     /EC_number="2.6.1.51"
                     /note="L-alanine: glyoxylate aminotransferase 1; hepatic
                     peroxisomal alanine:glyoxylate aminotransferase;
                     serine--pyruvate aminotransferase; alanine--glyoxylate and
                     serine--pyruvate aminotransferase"
                     /codon_start=1
                     /product="alanine--glyoxylate aminotransferase"
                     /protein_id="NP_000021.1"
                     /db_xref="CCDS:CCDS2543.1"
                     /db_xref="GeneID:189"
                     /db_xref="HGNC:HGNC:341"
                     /db_xref="MIM:604285"
                     /translation="MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQM
                     IGSMSKDMYQIMDEIKEGIQYVFQTRNPLTLVISGSGHCALEAALVNVLEPGDSFLVGA
                     NGIWGQRAVDIGERIGARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESSTGVL
                     QPLDGFGELCHRYKCLLLVDSVASLGGTPLYMDRQGIDILYSGSQKALNAPPGTSLISF
                     SDKAKKKMYSRKTKPFSFYLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESLALIAE
                     QGLENSWRQHREAAAYLHGRLQALGLQLFVKDPALRLPTVTTVAVPAGYDWRDIVSYVI
                     DHFDIEIMGGLGPSTGKVLRIGLLGCNATRENVDRVTEALRAALQHCPKKKL"
     misc_feature    67..69
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT; SPT;
                     TLH6"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P21549.1); phosphorylation site"
     misc_feature    715..717
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT; SPT;
                     TLH6"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:O35423; propagated from
                     UniProtKB/Swiss-Prot (P21549.1); acetylation site"
     misc_feature    742..744
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT; SPT;
                     TLH6"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O35423; propagated from
                     UniProtKB/Swiss-Prot (P21549.1); acetylation site"
     misc_feature    976..978
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT; SPT;
                     TLH6"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O35423; propagated from
                     UniProtKB/Swiss-Prot (P21549.1); acetylation site"
     regulatory      1493..1498
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT; SPT;
                     TLH6"
                     /note="hexamer: AATAAA"
     polyA_site      1519
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT; SPT;
                     TLH6"
                     /note="major polyA site"
     polyA_site      1547
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT; SPT;
                     TLH6"
     regulatory      2880..2885
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT; SPT;
                     TLH6"
                     /note="hexamer: AATATA"
     polyA_site      2900
                     /gene="AGXT"
                     /gene_synonym="AGT; AGT1; AGXT1; PH1; Ser-PyrAT; SPAT; SPT;
                     TLH6"
ORIGIN
        1 agtgcagccc caggttcccg agcggcaggt tgggtgcgga ccatggcctc tcacaagctg
       61 ctggtgaccc cccccaaggc cctgctcaag cccctctcca tccccaacca gctcctgctg
      121 gggcctggtc cttccaacct gcctcctcgc atcatggcag ccggggggct gcagatgatc
      181 gggtccatga gcaaggatat gtaccagatc atggacgaga tcaaggaagg catccagtac
      241 gtgttccaga ccaggaaccc actcacactg gtcatctctg gctcgggaca ctgtgccctg
      301 gaggccgccc tggtcaatgt gctggagcct ggggactcct tcctggttgg ggccaatggc
      361 atttgggggc agcgagccgt ggacatcggg gagcgcatag gagcccgagt gcacccgatg
      421 accaaggacc ctggaggcca ctacacactg caggaggtgg aggagggcct ggcccagcac
      481 aagccagtgc tgctgttctt aacccacggg gagtcgtcca ccggcgtgct gcagcccctt
      541 gatggcttcg gggaactctg ccacaggtac aagtgcctgc tcctggtgga ttcggtggca
      601 tccctgggcg ggacccccct ttacatggac cggcaaggca tcgacatcct gtactcgggc
      661 tcccagaagg ccctgaacgc ccctccaggg acctcgctca tctccttcag tgacaaggcc
      721 aaaaagaaga tgtactcccg caagacgaag cccttctcct tctacctgga catcaagtgg
      781 ctggccaact tctggggctg tgacgaccag cccaggatgt accatcacac aatccccgtc
      841 atcagcctgt acagcctgag agagagcctg gccctcattg cggaacaggg cctggagaac
      901 agctggcgcc agcaccgcga ggccgcggcg tatctgcatg ggcgcctgca ggcactgggg
      961 ctgcagctct tcgtgaagga cccggcgctc cggcttccca cagtcaccac tgtggctgta
     1021 cccgctggct atgactggag agacatcgtc agctacgtca tagaccactt cgacattgag
     1081 atcatgggtg gccttgggcc ctccacgggg aaggtgctgc ggatcggcct gctgggctgc
     1141 aatgccaccc gcgagaatgt ggaccgcgtg acggaggccc tgagggcggc cctgcagcac
     1201 tgccccaaga agaagctgtg acctgcccac tggcacacag ctggcactgg cacacacctg
     1261 tcccatgccc accctgaggg atcaggagca aacagaccct gcaaggtcct ccaggcctgg
     1321 ggacaggaaa gccactgacc cagcccggga ggcagaacca ggcagcctcc ctggccccag
     1381 gcagcccttt tccctccagt ggcacctcct ggaaacagtc cacttgggcg caaaacccag
     1441 tgccttccaa atgagctgca gtccccaggc catgagcctc ccgggaatgt ttaataaagg
     1501 gcctggccaa ctctcctcac tgtgtggggt ggtctgtgaa agagtgagag gagagcatct
     1561 ctgctccctg agctgcctga ttgtggactt tagggggaca ctcctcatcc tggagcccac
     1621 agggtagatc ctcccctgga ggaggtgctg tcaccacact ctagccccag atgtcacacc
     1681 cccaaacgtc ctcacgcacc acatccaggt gaacccacac ggcgcacagg gctggttgga
     1741 gacccctgtc atggacaagg gtacctgcgt gctggagagc gcacagccag gacctgagcc
     1801 catgacacgt ggaagcctcc aatggaaggt cccctatgct cccatccagc cagtgcccac
     1861 ccctcaactg cctgacttct gtgaccatag atcagcctgg catatttgaa tttatttatt
     1921 tattttgaaa cggagtttca ctcttgttgc ccaggctgga gtgcagtggc acgatctcag
     1981 ctcactacaa cctccgcctc ccgggttcaa gcgattctcc tgcctcaggc tccggattag
     2041 ctgggactac aggtgtgcac caccatgccc ggctaatttt tgtattttta gtacagatgg
     2101 ggtttcacta tattggccag gctggtctcg aactcctgac ctcaagtgat ccacctgcct
     2161 cggcctccca aagtgctggg attacaagcg tgagccactg tgcccagcca tagttgaatt
     2221 tcatggtcag tggaacacac agcaggtcct ccactgtgcc agcttctttc acttactgtt
     2281 tttgacactc acatgtaccg tcgtgggcgc cggtgtgtct ttgttgctga gtgccgtccc
     2341 gtcatatgga cgtgcgtcgt gggcgccggt gtgtcttgtt gctgagtgcc gtcccgtcat
     2401 atggacacct catgatttgt tggttcatca ccatagttga gcatctgggt tatttctatt
     2461 ttggggctgt tatgaatacg gaggtagtga aattcttact caagccttcg tgtggccata
     2521 tattttcatt tttcttggat aaataactag gagtggaatt gcagggtcat acaataggct
     2581 taaccttata cgagactgcc acgaaattct ccgaagtggc tcttccatgt ttcattcccg
     2641 cagctacagc gtccagggtg ctccacgtcc tcacccacac tccatgttgt ctttttttgc
     2701 tagggggtgt aaaatcctgt ctgatttggt tttagtttgc atttccctga tgcctattga
     2761 tgttgagcaa cttctcatga gctatcggcc gtttgtagat cttctgaaaa gtgtcagttc
     2821 aaatattttg ttcatatttg gatttttatc ttcttattgt caatgtgtga tcattttaaa
     2881 atatattcta gatactatca
//
LOCUS       NM_000031               3129 bp    mRNA    linear   PRI 26-FEB-2023
DEFINITION  Homo sapiens aminolevulinate dehydratase (ALAD), transcript variant
            2, mRNA.
ACCESSION   NM_000031
VERSION     NM_000031.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3129)
  AUTHORS   Palir N, Stajnko A, Snoj Tratnik J, Mazej D, Briski AS,
            France-Stiglic A, Rosolen V, Mariuz M, Giordani E, Barbone F, Horvat
            M and Falnoga I.
  TITLE     ALAD and APOE polymorphisms are associated with lead and mercury
            levels in Italian pregnant women and their newborns with adequate
            nutritional status of zinc and selenium
  JOURNAL   Environ Res 220, 115226 (2023)
   PUBMED   36621546
  REMARK    GeneRIF: ALAD and APOE polymorphisms are associated with lead and
            mercury levels in Italian pregnant women and their newborns with
            adequate nutritional status of zinc and selenium.
REFERENCE   2  (bases 1 to 3129)
  AUTHORS   Qader A, Rehman K and Akash MSH.
  TITLE     Genetic susceptibility of delta-ALAD associated with lead (Pb)
            intoxication: sources of exposure, preventive measures, and
            treatment interventions
  JOURNAL   Environ Sci Pollut Res Int 28 (33), 44818-44832 (2021)
   PUBMED   34244947
  REMARK    GeneRIF: Genetic susceptibility of delta-ALAD associated with lead
            (Pb) intoxication: sources of exposure, preventive measures, and
            treatment interventions. Review article
REFERENCE   3  (bases 1 to 3129)
  AUTHORS   Perini JA, Silva MC, Vasconcellos ACS, Viana PVS, Lima MO, Jesus IM,
            Kempton JW, Oliveira RAA, Hacon SS and Basta PC.
  TITLE     Genetic Polymorphism of Delta Aminolevulinic Acid Dehydratase (ALAD)
            Gene and Symptoms of Chronic Mercury Exposure in Munduruku
            Indigenous Children within the Brazilian Amazon
  JOURNAL   Int J Environ Res Public Health 18 (16), 8746 (2021)
   PUBMED   34444495
  REMARK    GeneRIF: Genetic Polymorphism of Delta Aminolevulinic Acid
            Dehydratase (ALAD) Gene and Symptoms of Chronic Mercury Exposure in
            Munduruku Indigenous Children within the Brazilian Amazon.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3129)
  AUTHORS   Liu G, Sil D, Maio N, Tong WH, Bollinger JM Jr, Krebs C and Rouault
            TA.
  TITLE     Heme biosynthesis depends on previously unrecognized acquisition of
            iron-sulfur cofactors in human amino-levulinic acid dehydratase
  JOURNAL   Nat Commun 11 (1), 6310 (2020)
   PUBMED   33298951
  REMARK    GeneRIF: Heme biosynthesis depends on previously unrecognized
            acquisition of iron-sulfur cofactors in human amino-levulinic acid
            dehydratase. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3129)
  AUTHORS   Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR
            and Vandekerckhove J.
  TITLE     Exploring proteomes and analyzing protein processing by mass
            spectrometric identification of sorted N-terminal peptides
  JOURNAL   Nat Biotechnol 21 (5), 566-569 (2003)
   PUBMED   12665801
REFERENCE   6  (bases 1 to 3129)
  AUTHORS   Dawson SJ and White LA.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   7  (bases 1 to 3129)
  AUTHORS   Ishida N, Fujita H, Fukuda Y, Noguchi T, Doss M, Kappas A and Sassa
            S.
  TITLE     Cloning and expression of the defective genes from a patient with
            delta-aminolevulinate dehydratase porphyria
  JOURNAL   J Clin Invest 89 (5), 1431-1437 (1992)
   PUBMED   1569184
REFERENCE   8  (bases 1 to 3129)
  AUTHORS   Astrin KH, Kaya AH, Wetmur JG and Desnick RJ.
  TITLE     RsaI polymorphism in the human delta-aminolevulinate dehydratase
            gene at 9q34
  JOURNAL   Nucleic Acids Res 19 (15), 4307 (1991)
   PUBMED   1678509
REFERENCE   9  (bases 1 to 3129)
  AUTHORS   Wetmur,J.G., Bishop,D.F., Cantelmo,C. and Desnick,R.J.
  TITLE     Human delta-aminolevulinate dehydratase: nucleotide sequence of a
            full-length cDNA clone
  JOURNAL   Proc Natl Acad Sci U S A 83 (20), 7703-7707 (1986)
   PUBMED   3463993
REFERENCE   10  (bases 1 to 3129)
  AUTHORS   Roels,H.A., Buchet,J.P., Lauwerys,R.R. and Sonnet,J.
  TITLE     Comparison of in vivo effect of inorganic lead and cadmium on
            glutathione reductase system and delta-aminolevulinate dehydratase
            in human erythrocytes
  JOURNAL   Br J Ind Med 32 (3), 181-192 (1975)
   PUBMED   1156566
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.172413.1,
            SRR1660805.72089.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
            (PMID:12665801)
            MANE Ensembl match :: ENST00000409155.8/ ENSP00000386284.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA805310.1, AK290490.1,
            AK131490.1, BC000977.3 and BU625796.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 20, 2018 this sequence version replaced NM_000031.5.
            Summary: The ALAD enzyme is composed of 8 identical subunits and
            catalyzes the condensation of 2 molecules of delta-aminolevulinate
            to form porphobilinogen (a precursor of heme, cytochromes and other
            hemoproteins). ALAD catalyzes the second step in the porphyrin and
            heme biosynthetic pathway; zinc is essential for enzymatic
            activity. ALAD enzymatic activity is inhibited by lead and a defect
            in the ALAD structural gene can cause increased sensitivity to lead
            poisoning and acute hepatic porphyria. Alternative splicing of this
            gene results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Dec 2015].
            Transcript Variant: This variant (2) lacks a segment of the coding
            region and initiates translation from an alternate start codon,
            compared to variant 1. The resulting isoform (b) has a distinct
            N-terminus, compared to isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3129
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q32"
     gene            1..3129
                     /gene="ALAD"
                     /gene_synonym="ALADH; PBGS"
                     /note="aminolevulinate dehydratase"
                     /db_xref="GeneID:210"
                     /db_xref="HGNC:HGNC:395"
                     /db_xref="MIM:125270"
     misc_feature    122..124
                     /gene="ALAD"
                     /gene_synonym="ALADH; PBGS"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MPLCPLAHA"
     CDS             149..1141
                     /gene="ALAD"
                     /gene_synonym="ALADH; PBGS"
                     /EC_number="4.2.1.24"
                     /note="isoform b is encoded by transcript variant 2;
                     porphobilinogen synthase; aminolevulinate, delta-,
                     dehydratase; testicular tissue protein Li 95;
                     delta-aminolevulinic acid dehydratase"
                     /codon_start=1
                     /product="delta-aminolevulinic acid dehydratase isoform b"
                     /protein_id="NP_000022.3"
                     /db_xref="CCDS:CCDS6794.2"
                     /db_xref="GeneID:210"
                     /db_xref="HGNC:HGNC:395"
                     /db_xref="MIM:125270"
                     /translation="MQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQ
                     PITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEA
                     IHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQ
                     VVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRR
                     CYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGE
                     FAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE"
     misc_feature    791..793
                     /gene="ALAD"
                     /gene_synonym="ALADH; PBGS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P10518; propagated from
                     UniProtKB/Swiss-Prot (P13716.1); phosphorylation site"
     regulatory      3104..3109
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALAD"
                     /gene_synonym="ALADH; PBGS"
                     /note="hexamer: AATAAA"
     polyA_site      3129
                     /gene="ALAD"
                     /gene_synonym="ALADH; PBGS"
                     /note="major polyA site"
ORIGIN
        1 acgcggtctg tgggagaccg gagcgggaga cagcggtgac aggagcagcg gccgggagcc
       61 cttagggagg cagacagagc ctgcagccaa tgccccagga gccctcggtt ccaaccaact
      121 gatgcccctg tgcccactgg cccacgccat gcagccccag tccgttctgc acagcggcta
      181 cttccaccca ctacttcggg cctggcagac agccaccacc accctcaatg cctccaacct
      241 catctacccc atctttgtca cggatgttcc tgatgacata cagcctatca ccagcctccc
      301 aggagtggcc aggtatggtg tgaagcggct ggaagagatg ctgaggccct tggtggaaga
      361 gggcctacgc tgtgtcttga tctttggcgt ccccagcaga gttcccaagg acgagcgggg
      421 ttccgcagct gactccgagg agtccccagc tattgaggca atccatctgt tgaggaagac
      481 cttccccaac ctcctggtgg cctgtgatgt ctgcctgtgt ccctacacct cccatggtca
      541 ctgcgggctc ctgagtgaaa acggagcatt ccgggctgag gagagccgcc agcggctggc
      601 tgaggtggca ttggcgtatg ccaaggcagg atgtcaggtg gtagccccgt cggacatgat
      661 ggatggacgc gtggaagcca tcaaagaggc cctgatggca catggacttg gcaacagggt
      721 atcggtgatg agctacagtg ccaaatttgc ttcctgtttc tatggccctt tccgggatgc
      781 agctaagtca agcccagctt ttggggaccg ccgctgctac cagctgcccc ctggagcacg
      841 aggcctggct ctccgagctg tggaccggga tgtacgggaa ggagctgaca tgctcatggt
      901 gaagccggga atgccctacc tggacatcgt gcgggaggta aaggacaagc accctgacct
      961 ccctctcgcc gtgtaccacg tctctggaga gtttgccatg ctgtggcatg gagcccaggc
     1021 cggggcattt gatctcaagg ctgccgtact ggaggccatg actgccttcc gcagagcagg
     1081 tgctgacatc atcatcacct actacacacc gcagctgctg cagtggctga aggaggaatg
     1141 atggagacag tgccaggccc aagaactaga actttaaaac gttcccgggg cctcagacaa
     1201 gtgaaaacca aagtaaatgc tgcttttaga actgtgccct catgccctct tcctgctcac
     1261 atgctagcgg ggcccagcag ccctgggtgg ttttgccagc atgctaactc ttgtaactcg
     1321 cagctgcatc ctatgagctc tcccaagctt ccccgcccct cccctgggtc agccgtgagg
     1381 cccacctttg ccaccctcag ctctttcctc tggtgtggct tcagcttgaa agcaacctgg
     1441 agtcgggggc acagcctttg gggcctggct gggagagggt cttggagcat taggggaaga
     1501 agagagcagt gggatcttgg ggcctgagaa gccttggaac gcttctggca gcagagctgg
     1561 gtgtgggaat gaggcctaga tcgatatccc tgggttagag ttgaaatttg ccgcaattcc
     1621 actggaaggc atttcccacg aggccagagg ttgccaggct gcctgaggtc tcctattcta
     1681 ctctgaacca taaacccaga gaagaattac tcattaacca gcataaatac tgcctgagga
     1741 tcaaaactca gaggcaaaga gggagttcct gactgctaga ggtgccacca ccacaaacac
     1801 tttttattca ggagatactt tttgagaatc tctgctctgt tcctaggttc agtgctgggt
     1861 cctgggaata cagcaggaca gacctcagct tatctcttca tagaaattat acaaagagaa
     1921 ttggggagac agctaagaag aaaacaaaga aataaagcag ttacaaattg tgataagtgc
     1981 tttgaaggaa agaaggggtc tgagacaaca acagggaagg ggcctctctt gaaacagtag
     2041 ttgggaagga ggcagacatg caccagtgat gtggtgacag gtgctctgaa ggaggtcacc
     2101 aggacctgac ctctttgaag gatcagaaaa tacttccctg aaggactgac atttgagcct
     2161 agacctgaag ggtgagccat caagctaaga caattgggga agagcattcc agggagaggg
     2221 aggagttgtg caaaggccct ggggctcctt ctagctggag gaatgcaagg ctagcttgtc
     2281 tggagcactg agaggatggc ctgaactgag tggagagaga cagaccagga ccaaaccatg
     2341 cagaggtcaa gggccacatt caccttttca gagtgactca atcaaatttg tagtttgtaa
     2401 aagtatttta acagctctgc ggcaaagtgc aaatgaaaag tcttgatggc atggactgga
     2461 gcggggacag tggggatgga gaaaggggaa tggattgtgg atgtgtttag aaggtagatt
     2521 cgatgtgaag gatgaatctg gcttgacctt ctgggtggct gatgggccat ttactgagat
     2581 ggggcagcct ggaagaggaa cagaagcagg gtcggggtgg agggagaata ctaaacttag
     2641 cttgagacat tttgcaataa ggaagctata tctagagtgc ttatgtgact cacctaaggc
     2701 cactcaacaa gtttgtggca gaactggatt agaactgcac agaaaacagc caagctggga
     2761 tttgaaccca tgtagtccaa ctccaaggcc tctgccccta accactgtgc cataccacct
     2821 cccaataatc aacagcaaaa ttataggtct aacaatgttt tatagacacc cctccattta
     2881 tgtgatgggt ttgcatcctg ataaacccat cataagttga aaatatgatc ataagttgaa
     2941 aatatgatca taagtcaaaa atgtatttaa tatacctaac ctaccaaaca tcatagctta
     3001 gcctagcctg ccttaaacat gctcagaaca cttacattag cctacagtgg gcaaaactat
     3061 ccaacacaaa atctatattg taataaagtt gtaaagaatt ttgaataaaa attcaatatt
     3121 tgaagtaca
//
LOCUS       NM_000032               1940 bp    mRNA    linear   PRI 12-MAY-2023
DEFINITION  Homo sapiens 5'-aminolevulinate synthase 2 (ALAS2), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000032
VERSION     NM_000032.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1940)
  AUTHORS   Ono K, Fujiwara T, Saito K, Nishizawa H, Takahashi N, Suzuki C, Ochi
            T, Kato H, Ishii Y, Onodera K, Ichikawa S, Fukuhara N, Onishi Y,
            Yokoyama H, Yamada R, Nakamura Y, Igarashi K and Harigae H.
  TITLE     Congenital sideroblastic anemia model due to ALAS2 mutation is
            susceptible to ferroptosis
  JOURNAL   Sci Rep 12 (1), 9024 (2022)
   PUBMED   35637209
  REMARK    GeneRIF: Congenital sideroblastic anemia model due to ALAS2 mutation
            is susceptible to ferroptosis. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1940)
  AUTHORS   de Gennes C, Lamoril J, Borgel A, Boi C, Yao R, Boileau C and
            Tchernitchko D.
  TITLE     Severe iron overload in a woman with homeostatic iron regulator
            (HFE) and a novel 5'-aminolevulinate synthase 2 (ALAS2) mutations:
            interactions of multiple genetic determinants
  JOURNAL   Br J Haematol 196 (2), e17-e20 (2022)
   PUBMED   34490613
  REMARK    GeneRIF: Severe iron overload in a woman with homeostatic iron
            regulator (HFE) and a novel 5'-aminolevulinate synthase 2 (ALAS2)
            mutations: interactions of multiple genetic determinants.
REFERENCE   3  (bases 1 to 1940)
  AUTHORS   Oakley JH, Campagna DR, Sun L, Rockowitz S, Sliz P, Boudreaux J,
            Woods G and Fleming MD.
  TITLE     A synonymous coding variant that alters ALAS2 splicing and causes
            X-linked sideroblastic anemia
  JOURNAL   Pediatr Blood Cancer 69 (1), e29309 (2022)
   PUBMED   34411431
  REMARK    GeneRIF: A synonymous coding variant that alters ALAS2 splicing and
            causes X-linked sideroblastic anemia.
REFERENCE   4  (bases 1 to 1940)
  AUTHORS   Ducamp S, Luscieti S, Ferrer-Cortes X, Nicolas G, Manceau H, Peoc'h
            K, Yien YY, Kannengiesser C, Gouya L, Puy H and Sanchez M.
  TITLE     A mutation in the iron-responsive element of ALAS2 is a modifier of
            disease severity in a patient suffering from CLPX associated
            erythropoietic protoporphyria
  JOURNAL   Haematologica 106 (7), 2030-2033 (2021)
   PUBMED   33596641
  REMARK    GeneRIF: A mutation in the iron-responsive element of ALAS2 is a
            modifier of disease severity in a patient suffering from CLPX
            associated erythropoietic protoporphyria. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 1940)
  AUTHORS   Hu ST, Li XY, Chen H, Xu LH and Fang JP.
  TITLE     [Knockdown of ALAS2 Affects Erythroid Differentiation by
            Down-regulating Mitophagy Receptor BNIP3L]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 28 (5), 1710-1717 (2020)
   PUBMED   33067979
  REMARK    GeneRIF: [Knockdown of ALAS2 Affects Erythroid Differentiation by
            Down-regulating Mitophagy Receptor BNIP3L].
REFERENCE   6  (bases 1 to 1940)
  AUTHORS   Balwani M and Desnick R.
  CONSRTM   Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical
            Research Network
  TITLE     X-Linked Protoporphyria
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   23409301
REFERENCE   7  (bases 1 to 1940)
  AUTHORS   Cotter PD, Baumann M and Bishop DF.
  TITLE     Enzymatic defect in 'X-linked' sideroblastic anemia: molecular
            evidence for erythroid delta-aminolevulinate synthase deficiency
  JOURNAL   Proc Natl Acad Sci U S A 89 (9), 4028-4032 (1992)
   PUBMED   1570328
REFERENCE   8  (bases 1 to 1940)
  AUTHORS   Cotter PD, Willard HF, Gorski JL and Bishop DF.
  TITLE     Assignment of human erythroid delta-aminolevulinate synthase (ALAS2)
            to a distal subregion of band Xp11.21 by PCR analysis of somatic
            cell hybrids containing X; autosome translocations
  JOURNAL   Genomics 13 (1), 211-212 (1992)
   PUBMED   1577484
REFERENCE   9  (bases 1 to 1940)
  AUTHORS   Gardner LC, Smith SJ and Cox TM.
  TITLE     Biosynthesis of delta-aminolevulinic acid and the regulation of heme
            formation by immature erythroid cells in man
  JOURNAL   J Biol Chem 266 (32), 22010-22018 (1991)
   PUBMED   1939222
REFERENCE   10  (bases 1 to 1940)
  AUTHORS   Cox TC, Bawden MJ, Martin A and May BK.
  TITLE     Human erythroid 5-aminolevulinate synthase: promoter analysis and
            identification of an iron-responsive element in the mRNA
  JOURNAL   EMBO J 10 (7), 1891-1902 (1991)
   PUBMED   2050125
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X60364.1, SRR3476690.828307.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968540
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000650242.1/ ENSP00000497236.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313118.1 and BQ182291.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 8, 2018 this sequence version replaced NM_000032.4.
            Summary: The product of this gene specifies an erythroid-specific
            mitochondrially located enzyme. The encoded protein catalyzes the
            first step in the heme biosynthetic pathway. Defects in this gene
            cause X-linked pyridoxine-responsive sideroblastic anemia.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1940
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.21"
     gene            1..1940
                     /gene="ALAS2"
                     /gene_synonym="ALAS-E; ALASE; ANH1; ASB; SIDBA1; XLDPP;
                     XLEPP; XLSA"
                     /note="5'-aminolevulinate synthase 2"
                     /db_xref="GeneID:212"
                     /db_xref="HGNC:HGNC:397"
                     /db_xref="MIM:301300"
     CDS             52..1815
                     /gene="ALAS2"
                     /gene_synonym="ALAS-E; ALASE; ANH1; ASB; SIDBA1; XLDPP;
                     XLEPP; XLSA"
                     /EC_number="2.3.1.37"
                     /note="isoform a precursor is encoded by transcript variant
                     1; delta-ALA synthetase; 5-aminolevulinate synthase,
                     erythroid-specific, mitochondrial; delta-ALA synthase 2;
                     5-aminolevulinic acid synthase 2; delta-aminolevulinate
                     synthase 2; aminolevulinate, delta-, synthase 2;
                     erythroid-specific delta-aminolevulinate synthase"
                     /codon_start=1
                     /product="5-aminolevulinate synthase, erythroid-specific,
                     mitochondrial isoform a precursor"
                     /protein_id="NP_000023.2"
                     /db_xref="CCDS:CCDS14366.1"
                     /db_xref="GeneID:212"
                     /db_xref="HGNC:HGNC:397"
                     /db_xref="MIM:301300"
                     /translation="MVTAAMLLQCCPVLARGPTSLLGKVVKTHQFLFGIGRCPILATQG
                     PNCSQIHLKATKAGGDSPSWAKGHCPFMLSELQDGKSKIVQKAAPEVQEDVKAFKTDLP
                     SSLVSVSLRKPFSGPQEQEQISGKVTHLIQNNMPGNYVFSYDQFFRDKIMEKKQDHTYR
                     VFKTVNRWADAYPFAQHFSEASVASKDVSVWCSNDYLGMSRHPQVLQATQETLQRHGAG
                     AGGTRNISGTSKFHVELEQELAELHQKDSALLFSSCFVANDSTLFTLAKILPGCEIYSD
                     AGNHASMIQGIRNSGAAKFVFRHNDPDHLKKLLEKSNPKIPKIVAFETVHSMDGAICPL
                     EELCDVSHQYGALTFVDEVHAVGLYGSRGAGIGERDGIMHKIDIISGTLGKAFGCVGGY
                     IASTRDLVDMVRSYAAGFIFTTSLPPMVLSGALESVRLLKGEEGQALRRAHQRNVKHMR
                     QLLMDRGLPVIPCPSHIIPIRVGNAALNSKLCDLLLSKHGIYVQAINYPTVPRGEELLR
                     LAPSPHHSPQMMEDFVEKLLLAWTAVGLPLQDVSVAACNFCRRPVHFELMSEWERSYFG
                     NMGPQYVTTYA"
     transit_peptide 52..198
                     /gene="ALAS2"
                     /gene_synonym="ALAS-E; ALASE; ANH1; ASB; SIDBA1; XLDPP;
                     XLEPP; XLSA"
                     /note="Mitochondrion.
                     /evidence=ECO:0000269|PubMed:14643893; propagated from
                     UniProtKB/Swiss-Prot (P22557.2)"
     mat_peptide     199..1812
                     /gene="ALAS2"
                     /gene_synonym="ALAS-E; ALASE; ANH1; ASB; SIDBA1; XLDPP;
                     XLEPP; XLSA"
                     /product="5-aminolevulinate synthase, erythroid-specific,
                     mitochondrial. /id=PRO_0000001223"
                     /note="propagated from UniProtKB/Swiss-Prot (P22557.2)"
     regulatory      1920..1925
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALAS2"
                     /gene_synonym="ALAS-E; ALASE; ANH1; ASB; SIDBA1; XLDPP;
                     XLEPP; XLSA"
                     /note="hexamer: AATAAA"
     polyA_site      1940
                     /gene="ALAS2"
                     /gene_synonym="ALAS-E; ALASE; ANH1; ASB; SIDBA1; XLDPP;
                     XLEPP; XLSA"
                     /note="major polyA site"
ORIGIN
        1 acctgtcatt cgttcgtcct cagtgcaggg caacaggact ttaggttcaa gatggtgact
       61 gcagccatgc tgctacagtg ctgcccagtg cttgcccggg gccccacaag cctcctaggc
      121 aaggtggtta agactcacca gttcctgttt ggtattggac gctgtcccat cctggctacc
      181 caaggaccaa actgttctca aatccacctt aaggcaacaa aggctggagg agattctcca
      241 tcttgggcga agggccactg tcccttcatg ctgtcggaac tccaggatgg gaagagcaag
      301 attgtgcaga aggcagcccc agaagtccag gaagatgtga aggctttcaa gacagatctg
      361 cctagctccc tggtctcagt cagcctaagg aagccatttt ccggtcccca ggagcaggag
      421 cagatctctg ggaaggtcac acacctgatt cagaacaata tgcctggaaa ctatgtcttc
      481 agttatgacc agtttttcag ggacaagatc atggagaaga aacaggatca cacctaccgt
      541 gtgttcaaga ctgtgaaccg ctgggctgat gcatatccct ttgcccaaca tttctctgag
      601 gcatctgtgg cctcaaagga tgtgtccgtc tggtgtagta atgattacct gggcatgagc
      661 cgacaccctc aggtcttgca agccacacag gagaccctgc agcgtcatgg tgctggagct
      721 ggtggcaccc gcaacatctc aggcaccagt aagtttcatg tggagcttga gcaggagctg
      781 gctgagctgc accagaagga ctcagccctg ctcttctcct cctgctttgt tgccaatgac
      841 tctactctct tcaccttggc caagatcctg ccagggtgcg agatttactc agacgcaggc
      901 aaccatgctt ccatgatcca aggtatccgt aacagtggag cagccaagtt tgtcttcagg
      961 cacaatgacc ctgaccacct aaagaaactt ctagagaagt ctaaccctaa gatacccaaa
     1021 attgtggcct ttgagactgt ccactccatg gatggtgcca tctgtcccct cgaggagttg
     1081 tgtgatgtgt cccaccagta tggggccctg accttcgtgg atgaggtcca tgctgtagga
     1141 ctgtatgggt cccggggcgc tgggattggg gagcgtgatg gaattatgca taagattgac
     1201 atcatctctg gaactcttgg caaggccttt ggctgtgtgg gcggctacat tgccagcacc
     1261 cgtgacttgg tggacatggt gcgctcctat gctgcaggct tcatctttac cacttctctg
     1321 ccccccatgg tgctctctgg agctctagaa tctgtgcggc tgctcaaggg agaggagggc
     1381 caagccctga ggcgagccca ccagcgcaat gtcaagcaca tgcgccagct actcatggac
     1441 aggggccttc ctgtcatccc ctgccccagc cacatcatcc ccatccgggt gggcaatgca
     1501 gcactcaaca gcaagctctg tgatctcctg ctctccaagc atggcatcta tgtgcaggcc
     1561 atcaactacc caactgtccc ccggggtgaa gagctcctgc gcttggcacc ctccccccac
     1621 cacagccctc agatgatgga agattttgtg gagaagctgc tgctggcttg gactgcggtg
     1681 gggctgcccc tccaggatgt gtctgtggct gcctgcaatt tctgtcgccg tcctgtacac
     1741 tttgagctca tgagtgagtg ggaacgttcc tacttcggga acatggggcc ccagtatgtc
     1801 accacctatg cctgagaagc cagctgccta ggattcacac cccacctgcg cttcacttgg
     1861 gtccaggcct actcctgtct tctgctttgt tgtgtgcctc tagctgaatt gagcctaaaa
     1921 ataaagcaca aaccacagca
//
LOCUS       NM_000033               3669 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens ATP binding cassette subfamily D member 1 (ABCD1),
            mRNA.
ACCESSION   NM_000033
VERSION     NM_000033.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3669)
  AUTHORS   Xiong C, Jia LN, Xiong WX, Wu XT, Xiong LL, Wang TH, Zhou D, Hong Z,
            Liu Z and Tang L.
  TITLE     Structural insights into substrate recognition and translocation of
            human peroxisomal ABC transporter ALDP
  JOURNAL   Signal Transduct Target Ther 8 (1), 74 (2023)
   PUBMED   36810450
  REMARK    GeneRIF: Structural insights into substrate recognition and
            translocation of human peroxisomal ABC transporter ALDP. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 3669)
  AUTHORS   Jia Y, Zhang Y, Wang W, Lei J, Ying Z and Yang G.
  TITLE     Structural and functional insights of the human peroxisomal ABC
            transporter ALDP
  JOURNAL   Elife 11, e75039 (2022)
   PUBMED   36374178
  REMARK    GeneRIF: Structural and functional insights of the human peroxisomal
            ABC transporter ALDP. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3669)
  AUTHORS   Chen ZP, Xu D, Wang L, Mao YX, Li Y, Cheng MT, Zhou CZ, Hou WT and
            Chen Y.
  TITLE     Structural basis of substrate recognition and translocation by human
            very long-chain fatty acid transporter ABCD1
  JOURNAL   Nat Commun 13 (1), 3299 (2022)
   PUBMED   35676282
  REMARK    GeneRIF: Structural basis of substrate recognition and translocation
            by human very long-chain fatty acid transporter ABCD1. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 3669)
  AUTHORS   Mallack EJ, Gao K, Engelen M and Kemp S.
  TITLE     Structure and Function of the ABCD1 Variant Database: 20 Years, 940
            Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy
  JOURNAL   Cells 11 (2), 283 (2022)
   PUBMED   35053399
  REMARK    GeneRIF: Structure and Function of the ABCD1 Variant Database: 20
            Years, 940 Pathogenic Variants, and 3400 Cases of
            Adrenoleukodystrophy. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3669)
  AUTHORS   Kok F, Neumann S, Sarde CO, Zheng S, Wu KH, Wei HM, Bergin J,
            Watkins PA, Gould S, Sack G et al.
  TITLE     Mutational analysis of patients with X-linked adrenoleukodystrophy
  JOURNAL   Hum Mutat 6 (2), 104-115 (1995)
   PUBMED   7581394
REFERENCE   6  (bases 1 to 3669)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24501781
REFERENCE   7  (bases 1 to 3669)
  AUTHORS   Raymond,G.V., Moser,A.B. and Fatemi,A.
  TITLE     X-Linked Adrenoleukodystrophy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301491
REFERENCE   8  (bases 1 to 3669)
  AUTHORS   Feil R, Aubourg P, Mosser J, Douar AM, Le Paslier D, Philippe C and
            Mandel JL.
  TITLE     Adrenoleukodystrophy: a complex chromosomal rearrangement in the
            Xq28 red/green-color-pigment gene region indicates two possible gene
            localizations
  JOURNAL   Am J Hum Genet 49 (6), 1361-1371 (1991)
   PUBMED   1746561
REFERENCE   9  (bases 1 to 3669)
  AUTHORS   Moser,H.W., Moser,A.E., Singh,I. and O'Neill,B.P.
  TITLE     Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis,
            and therapy
  JOURNAL   Ann Neurol 16 (6), 628-641 (1984)
   PUBMED   6524872
REFERENCE   10  (bases 1 to 3669)
  AUTHORS   Migeon,B.R., Moser,H.W., Moser,A.B., Axelman,J., Sillence,D. and
            Norum,R.A.
  TITLE     Adrenoleukodystrophy: evidence for X linkage, inactivation, and
            selection favoring the mutant allele in heterozygous cells
  JOURNAL   Proc Natl Acad Sci U S A 78 (8), 5066-5070 (1981)
   PUBMED   6795626
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC025358.1, Z21876.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000218104.6/ ENSP00000218104.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U52111.3, BC025358.1 and
            BC015541.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000033.3.
            Summary: The protein encoded by this gene is a member of the
            superfamily of ATP-binding cassette (ABC) transporters. ABC
            proteins transport various molecules across extra- and
            intra-cellular membranes. ABC genes are divided into seven distinct
            subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This
            protein is a member of the ALD subfamily, which is involved in
            peroxisomal import of fatty acids and/or fatty acyl-CoAs in the
            organelle. All known peroxisomal ABC transporters are half
            transporters which require a partner half transporter molecule to
            form a functional homodimeric or heterodimeric transporter. This
            peroxisomal membrane protein is likely involved in the peroxisomal
            transport or catabolism of very long chain fatty acids. Defects in
            this gene have been identified as the underlying cause of
            adrenoleukodystrophy, an X-chromosome recessively inherited
            demyelinating disorder of the nervous system. [provided by RefSeq,
            Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3669
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..3669
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="ATP binding cassette subfamily D member 1"
                     /db_xref="GeneID:215"
                     /db_xref="HGNC:HGNC:61"
                     /db_xref="MIM:300371"
     misc_feature    307..309
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="upstream in-frame stop codon"
     CDS             412..2649
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /EC_number="7.6.2.4"
                     /note="adrenoleukodystrophy protein; ATP-binding cassette,
                     sub-family D (ALD), member 1"
                     /codon_start=1
                     /product="ATP-binding cassette sub-family D member 1"
                     /protein_id="NP_000024.2"
                     /db_xref="CCDS:CCDS14728.1"
                     /db_xref="GeneID:215"
                     /db_xref="HGNC:HGNC:61"
                     /db_xref="MIM:300371"
                     /translation="MPVLSRPRPWRGNTLKRTAVLLALAAYGAHKVYPLVRQCLAPARG
                     LQAPAGEPTQEASGVAAAKAGMNRVFLQRLLWLLRLLFPRVLCRETGLLALHSAALVSR
                     TFLSVYVARLDGRLARCIVRKDPRAFGWQLLQWLLIALPATFVNSAIRYLEGQLALSFR
                     SRLVAHAYRLYFSQQTYYRVSNMDGRLRNPDQSLTEDVVAFAASVAHLYSNLTKPLLDV
                     AVTSYTLLRAARSRGAGTAWPSAIAGLVVFLTANVLRAFSPKFGELVAEEARRKGELRY
                     MHSRVVANSEEIAFYGGHEVELALLQRSYQDLASQINLILLERLWYVMLEQFLMKYVWS
                     ASGLLMVAVPIITATGYSESDAEAVKKAALEKKEEELVSERTEAFTIARNLLTAAADAI
                     ERIMSSYKEVTELAGYTARVHEMFQVFEDVQRCHFKRPRELEDAQAGSGTIGRSGVRVE
                     GPLKIRGQVVDVEQGIICENIPIVTPSGEVVVASLNIRVEEGMHLLITGPNGCGKSSLF
                     RILGGLWPTYGGVLYKPPPQRMFYIPQRPYMSVGSLRDQVIYPDSVEDMQRKGYSEQDL
                     EAILDVVHLHHILQREGGWEAMCDWKDVLSGGEKQRIGMARMFYHRPKYALLDECTSAV
                     SIDVEGKIFQAAKDAGIALLSITHRPSLWKYHTHLLQFDGEGGWKFEKLDSAARLSLTE
                     EKQRLEQQLAGIPKMQRRLQELCQILGEAVAPAHVPAPSPQGPGGLQGAST"
     misc_feature    610..969
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="propagated from UniProtKB/Swiss-Prot (P33897.2);
                     Region: Interaction with PEX19.
                     /evidence=ECO:0000269|PubMed:10777694"
     misc_feature    610..663
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="propagated from UniProtKB/Swiss-Prot (P33897.2);
                     Region: PEX19 binding site and required for peroxisomal
                     targeting. /evidence=ECO:0000269|PubMed:15781447"
     misc_feature    685..747
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="propagated from UniProtKB/Swiss-Prot (P33897.2);
                     transmembrane region"
     misc_feature    802..864
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="propagated from UniProtKB/Swiss-Prot (P33897.2);
                     transmembrane region"
     misc_feature    1051..1053
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P33897.2); glycosylation site"
     misc_feature    1123..1185
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="propagated from UniProtKB/Swiss-Prot (P33897.2);
                     transmembrane region"
     misc_feature    1408..1470
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="propagated from UniProtKB/Swiss-Prot (P33897.2);
                     transmembrane region"
     misc_feature    1828..1890
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="propagated from UniProtKB/Swiss-Prot (P33897.2);
                     transmembrane region"
     misc_feature    2383..2646
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="propagated from UniProtKB/Swiss-Prot (P33897.2);
                     Region: Required for homodimerization.
                     /evidence=ECO:0000269|PubMed:17609205"
     misc_feature    2608..2610
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (P33897.2); phosphorylation site"
     regulatory      3636..3641
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="hexamer: AGTAAA"
     polyA_site      3669
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="major polyA site"
ORIGIN
        1 actgtcgctt cagccaggct gcggagcgga cggacgcgcc tggtgccccg gggaggggcg
       61 ccaccggggg aggaggagga ggagaaggtg gagaggaaga gacgccccct ctgcccgaga
      121 cctctcaagg ccctgacctc aggggccagg gcactgacag gacaggagag ccaagttcct
      181 ccacttgggc tgcccgaaga ggccgcgacc ctggagggcc ctgagcccac cgcaccaggg
      241 gccccagcac caccccgggg gcctaaagcg acagtctcag gggccatcgc aaggtttcca
      301 gttgcctaga caacaggccc agggtcagag caacaatcct tccagccacc tgcctcaact
      361 gctgccccag gcaccagccc cagtccctac gcggcagcca gcccaggtga catgccggtg
      421 ctctccaggc cccggccctg gcgggggaac acgctgaagc gcacggccgt gctcctggcc
      481 ctcgcggcct atggagccca caaagtctac cccttggtgc gccagtgcct ggccccggcc
      541 aggggtcttc aggcgcccgc cggggagccc acgcaggagg cctccggggt cgcggcggcc
      601 aaagctggca tgaaccgggt attcctgcag cggctcctgt ggctcctgcg gctgctgttc
      661 ccccgggtcc tgtgccggga gacggggctg ctggccctgc actcggccgc cttggtgagc
      721 cgcaccttcc tgtcggtgta tgtggcccgc ctggacggaa ggctggcccg ctgcatcgtc
      781 cgcaaggacc cgcgggcttt tggctggcag ctgctgcagt ggctcctcat cgccctccct
      841 gctaccttcg tcaacagtgc catccgttac ctggagggcc aactggccct gtcgttccgc
      901 agccgtctgg tggcccacgc ctaccgcctc tacttctccc agcagaccta ctaccgggtc
      961 agcaacatgg acgggcggct tcgcaaccct gaccagtctc tgacggagga cgtggtggcc
     1021 tttgcggcct ctgtggccca cctctactcc aacctgacca agccactcct ggacgtggct
     1081 gtgacttcct acaccctgct tcgggcggcc cgctcccgtg gagccggcac agcctggccc
     1141 tcggccatcg ccggcctcgt ggtgttcctc acggccaacg tgctgcgggc cttctcgccc
     1201 aagttcgggg agctggtggc agaggaggcg cggcggaagg gggagctgcg ctacatgcac
     1261 tcgcgtgtgg tggccaactc ggaggagatc gccttctatg ggggccatga ggtggagctg
     1321 gccctgctac agcgctccta ccaggacctg gcctcgcaga tcaacctcat ccttctggaa
     1381 cgcctgtggt atgttatgct ggagcagttc ctcatgaagt atgtgtggag cgcctcgggc
     1441 ctgctcatgg tggctgtccc catcatcact gccactggct actcagagtc agatgcagag
     1501 gccgtgaaga aggcagcctt ggaaaagaag gaggaggagc tggtgagcga gcgcacagaa
     1561 gccttcacta ttgcccgcaa cctcctgaca gcggctgcag atgccattga gcggatcatg
     1621 tcgtcgtaca aggaggtgac ggagctggct ggctacacag cccgggtgca cgagatgttc
     1681 caggtatttg aagatgttca gcgctgtcac ttcaagaggc ccagggagct agaggacgct
     1741 caggcggggt ctgggaccat aggccggtct ggtgtccgtg tggagggccc cctgaagatc
     1801 cgaggccagg tggtggatgt ggaacagggg atcatctgcg agaacatccc catcgtcacg
     1861 ccctcaggag aggtggtggt ggccagcctc aacatcaggg tggaggaagg catgcatctg
     1921 ctcatcacag gccccaatgg ctgcggcaag agctccctgt tccggatcct gggtgggctc
     1981 tggcccacgt acggtggtgt gctctacaag cccccacccc agcgcatgtt ctacatcccg
     2041 cagaggccct acatgtctgt gggctccctg cgtgaccagg tgatctaccc ggactcagtg
     2101 gaggacatgc aaaggaaggg ctactcggag caggacctgg aagccatcct ggacgtcgtg
     2161 cacctgcacc acatcctgca gcgggaggga ggttgggagg ctatgtgtga ctggaaggac
     2221 gtcctgtcgg gtggcgagaa gcagagaatc ggcatggccc gcatgttcta ccacaggccc
     2281 aagtacgccc tcctggatga atgcaccagc gccgtgagca tcgacgtgga aggcaagatc
     2341 ttccaggcgg ccaaggacgc gggcattgcc ctgctctcca tcacccaccg gccctccctg
     2401 tggaaatacc acacacactt gctacagttc gatggggagg gcggctggaa gttcgagaag
     2461 ctggactcag ctgcccgcct gagcctgacg gaggagaagc agcggctgga gcagcagctg
     2521 gcgggcattc ccaagatgca gcggcgcctc caggagctct gccagatcct gggcgaggcc
     2581 gtggccccag cgcatgtgcc ggcacctagc ccgcaaggcc ctggtggcct ccagggtgcc
     2641 tccacctgac acaaccgtcc ccggcccctg ccccgccccc aagctcggat cacatgaagg
     2701 agacagcagc acccacccat gcacgcaccc cgcccctgca tgcctggccc ctcctcctag
     2761 aaaacccttc ccgccctcgg gaaagtagat gtggagggtg gcgccctgcg taaccctcgc
     2821 cctgtccctc ccactccctg ggggcgctgt tccacagtga ctgggccctg tccagggcag
     2881 tgagtcctct actttgctcc gtggaggaag ctggggtaca aggggcccag tgctggccac
     2941 acagcagcgc agccgagccc caggagcccg tcaggccaca gcccctggca ctgcaggtgg
     3001 cctccctcca gagactcgag tccccatgat tccctcctcg tcagtctctc aaagacccca
     3061 tggtccatcc cctgagggtg gtcagccaag gctcccgttc cgtgggatgc cataaaagcc
     3121 gcccagtggg acccacagtc acacagagcg cctcacctgc atcctctccc ccacaagagc
     3181 cccaaagatc ccacgggaga ggggagaggg acgcacagca ctgcctgcca agcgagaatg
     3241 caggccccgc cccctcggcc cctcaccacc tctttctaca gcctaattta ttggattccc
     3301 tattcgtagc catctccgtg gccaatgtga ctaccgtgcc agcagcgggg gcggcccagc
     3361 ctctgagtcc cgtggggccc cggctcccac cggtgccaaa cccagcccct gcggccgtca
     3421 ccccgccagc ctacactgcc agccgccacc ggggcacacg ggcctctgct tgccagccag
     3481 gagtgcggac accatgttcc cagctcagtg ccaaagaggg gtcaccaggg ggagctgtct
     3541 gcggagccag cgcctgcccg agagagaccc caccgccacc gtgtgccttt cccgggccct
     3601 cagccctcgg gccgggcacc acccccagtc cccccagtaa aagcctccac tggcaaatgc
     3661 agtccttcc
//
LOCUS       NM_000035               2420 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens aldolase, fructose-bisphosphate B (ALDOB), mRNA.
ACCESSION   NM_000035
VERSION     NM_000035.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2420)
  AUTHORS   Li M, He X, Guo W, Yu H, Zhang S, Wang N, Liu G, Sa R, Shen X, Jiang
            Y, Tang Y, Zhuo Y, Yin C, Tu Q, Li N, Nie X, Li Y, Hu Z, Zhu H, Ding
            J, Li Z, Liu T, Zhang F, Zhou H, Li S, Yue J, Yan Z, Cheng S, Tao Y
            and Yin H.
  TITLE     Aldolase B suppresses hepatocellular carcinogenesis by inhibiting
            G6PD and pentose phosphate pathways
  JOURNAL   Nat Cancer 1 (7), 735-747 (2020)
   PUBMED   35122041
  REMARK    GeneRIF: Aldolase B suppresses hepatocellular carcinogenesis by
            inhibiting G6PD and pentose phosphate pathways.
REFERENCE   2  (bases 1 to 2420)
  AUTHORS   Lian J, Xia L, Chen Y, Zheng J, Ma K, Luo L and Ye F.
  TITLE     Aldolase B impairs DNA mismatch repair and induces apoptosis in
            colon adenocarcinoma
  JOURNAL   Pathol Res Pract 215 (11), 152597 (2019)
   PUBMED   31564566
  REMARK    GeneRIF: high ALDOB expression impairs DNA mismatch repair and
            induces apoptosis in colon adenocarcinoma
REFERENCE   3  (bases 1 to 2420)
  AUTHORS   Wang J, Wu Q and Qiu J.
  TITLE     Accumulation of fructose 1,6-bisphosphate protects clear cell renal
            cell carcinoma from oxidative stress
  JOURNAL   Lab Invest 99 (6), 898-908 (2019)
   PUBMED   30760861
  REMARK    GeneRIF: downregulation of aldolase B and accumulation of fructose
            1,6-bisphosphate promote clear cell renal cell carcinoma growth by
            counteracting oxidative stress
REFERENCE   4  (bases 1 to 2420)
  AUTHORS   Gerst F, Jaghutriz BA, Staiger H, Schulte AM, Lorza-Gil E, Kaiser G,
            Panse M, Haug S, Heni M, Schutz M, Stadion M, Schurmann A, Marzetta
            F, Ibberson M, Sipos B, Fend F, Fleming T, Nawroth PP, Konigsrainer
            A, Nadalin S, Wagner S, Peter A, Fritsche A, Richter D, Solimena M,
            Haring HU, Ullrich S and Wagner R.
  TITLE     The Expression of Aldolase B in Islets Is Negatively Associated With
            Insulin Secretion in Humans
  JOURNAL   J Clin Endocrinol Metab 103 (12), 4373-4383 (2018)
   PUBMED   30202879
  REMARK    GeneRIF: Differential gene expression between islets from
            normoglycemic and hyperglycemic patients was prominent for the
            glycolytic enzyme ALDOB, mRNA level of ALDOB correlated negatively
            with insulin secretion and positively with HbA1c. The minor allele
            of the ALDOB variant rs550915 associated with significantly higher
            levels of C-peptide and insulin during oral glucose tolerance test
            and hyperglycemic clamp, respectively.
REFERENCE   5  (bases 1 to 2420)
  AUTHORS   Bu P, Chen KY, Xiang K, Johnson C, Crown SB, Rakhilin N, Ai Y, Wang
            L, Xi R, Astapova I, Han Y, Li J, Barth BB, Lu M, Gao Z, Mines R,
            Zhang L, Herman M, Hsu D, Zhang GF and Shen X.
  TITLE     Aldolase B-Mediated Fructose Metabolism Drives Metabolic
            Reprogramming of Colon Cancer Liver Metastasis
  JOURNAL   Cell Metab 27 (6), 1249-1262 (2018)
   PUBMED   29706565
  REMARK    GeneRIF: ALDOB knockdown or dietary fructose restriction suppresses
            growth of colorectal cancer (CRC) liver metastases, but not primary
            tumors or lung metastases, highlighting the importance of tumor
            microenvironment.
REFERENCE   6  (bases 1 to 2420)
  AUTHORS   Gaughan,S., Ayres,L. and Baker,P.R. II.
  TITLE     Hereditary Fructose Intolerance
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   26677512
REFERENCE   7  (bases 1 to 2420)
  AUTHORS   Cross NC, Stojanov LM and Cox TM.
  TITLE     A new aldolase B variant, N334K, is a common cause of hereditary
            fructose intolerance in Yugoslavia
  JOURNAL   Nucleic Acids Res 18 (7), 1925 (1990)
   PUBMED   2336380
REFERENCE   8  (bases 1 to 2420)
  AUTHORS   Cross NC, de Franchis R, Sebastio G, Dazzo C, Tolan DR, Gregori C,
            Odievre M, Vidailhet M, Romano V, Mascali G et al.
  TITLE     Molecular analysis of aldolase B genes in hereditary fructose
            intolerance
  JOURNAL   Lancet 335 (8685), 306-309 (1990)
   PUBMED   1967768
REFERENCE   9  (bases 1 to 2420)
  AUTHORS   Sakakibara M, Takahashi I, Takasaki Y, Mukai T and Hori K.
  TITLE     Construction and expression of human aldolase A and B expression
            plasmids in Escherichia coli host
  JOURNAL   Biochim Biophys Acta 1007 (3), 334-342 (1989)
   PUBMED   2649152
REFERENCE   10  (bases 1 to 2420)
  AUTHORS   Sakakibara,M., Mukai,T., Yatsuki,H. and Hori,K.
  TITLE     Human aldolase isozyme gene: the structure of multispecies aldolase
            B mRNAs
  JOURNAL   Nucleic Acids Res 13 (14), 5055-5069 (1985)
   PUBMED   2410860
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK290795.1, SRR5189664.143737.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000647789.2/ ENSP00000497767.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X02747.1, AL353621.19 and
            AW242415.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 11, 2018 this sequence version replaced NM_000035.3.
            Summary: Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a
            tetrameric glycolytic enzyme that catalyzes the reversible
            conversion of fructose-1,6-bisphosphate to glyceraldehyde
            3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3
            aldolase isozymes which are distinguished by their electrophoretic
            and catalytic properties. Differences indicate that aldolases A, B,
            and C are distinct proteins, the products of a family of related
            'housekeeping' genes exhibiting developmentally regulated
            expression of the different isozymes. The developing embryo
            produces aldolase A, which is produced in even greater amounts in
            adult muscle where it can be as much as 5% of total cellular
            protein. In adult liver, kidney and intestine, aldolase A
            expression is repressed and aldolase B is produced. In brain and
            other nervous tissue, aldolase A and C are expressed about equally.
            There is a high degree of homology between aldolase A and C.
            Defects in ALDOB cause hereditary fructose intolerance. [provided
            by RefSeq, Dec 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2420
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..2420
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="aldolase, fructose-bisphosphate B"
                     /db_xref="GeneID:229"
                     /db_xref="HGNC:HGNC:417"
                     /db_xref="MIM:612724"
     misc_feature    35..37
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="upstream in-frame stop codon"
     CDS             77..1171
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /EC_number="4.1.2.13"
                     /note="aldolase 2; aldolase B, fructose-bisphosphatase;
                     liver-type aldolase; aldolase B, fructose-bisphosphate"
                     /codon_start=1
                     /product="fructose-bisphosphate aldolase B"
                     /protein_id="NP_000026.2"
                     /db_xref="CCDS:CCDS6756.1"
                     /db_xref="GeneID:229"
                     /db_xref="HGNC:HGNC:417"
                     /db_xref="MIM:612724"
                     /translation="MAHRFPALTQEQKKELSEIAQSIVANGKGILAADESVGTMGNRLQ
                     RIKVENTEENRRQFREILFSVDSSINQSIGGVILFHETLYQKDSQGKLFRNILKEKGIV
                     VGIKLDQGGAPLAGTNKETTIQGLDGLSERCAQYKKDGVDFGKWRAVLRIADQCPSSLA
                     IQENANALARYASICQQNGLVPIVEPEVIPDGDHDLEHCQYVTEKVLAAVYKALNDHHV
                     YLEGTLLKPNMVTAGHACTKKYTPEQVAMATVTALHRTVPAAVPGICFLSGGMSEEDAT
                     LNLNAINLCPLPKPWKLSFSYGRALQASALAAWGGKAANKEATQEAFMKRAMANCQAAK
                     GQYVHTGSSGAASTQSLFTACYTY"
     misc_feature    80..82
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000250|UniProtKB:Q91Y97; propagated from
                     UniProtKB/Swiss-Prot (P05062.2); acetylation site"
     misc_feature    182..184
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05062.2); phosphorylation site"
     misc_feature    191..193
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05062.2); phosphorylation site"
     misc_feature    341..343
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05062.2); phosphorylation site"
     misc_feature    431..433
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05062.2); phosphorylation site"
     misc_feature    470..472
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05062.2); phosphorylation site"
     misc_feature    890..892
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05062.2); phosphorylation site"
     misc_feature    902..904
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05062.2); phosphorylation site"
     misc_feature    971..973
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P00884; propagated from
                     UniProtKB/Swiss-Prot (P05062.2); phosphorylation site"
     misc_feature    977..979
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P00884; propagated from
                     UniProtKB/Swiss-Prot (P05062.2); phosphorylation site"
     misc_feature    1001..1003
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05062.2); phosphorylation site"
     misc_feature    1166..1168
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="Necessary for preference for fructose
                     1,6-bisphosphate over fructose 1-phosphate.
                     /evidence=ECO:0000250|UniProtKB:P00883; propagated from
                     UniProtKB/Swiss-Prot (P05062.2); other site"
     polyA_site      1579
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="major polyA site"
     regulatory      1582..1587
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="hexamer: AATAAA"
     polyA_site      1604
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="major polyA site"
     regulatory      1911..1916
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="hexamer: ATTAAA"
     polyA_site      1933
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
     regulatory      2093..2098
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="hexamer: AGTAAA"
     polyA_site      2112
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
     regulatory      2389..2394
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
                     /note="hexamer: ATTAAA"
     polyA_site      2416
                     /gene="ALDOB"
                     /gene_synonym="ALDB; ALDO2"
ORIGIN
        1 cttatttggc agctgctgcc tcacccacag cttttgatat ctaggaggac tcttctctcc
       61 caaactacct gtcaccatgg cccaccgatt tccagccctc acccaggagc agaagaagga
      121 gctctcagaa attgcccaga gcattgttgc caatggaaag gggatcctgg ctgcagatga
      181 atctgtaggt accatgggga accgcctgca gaggatcaag gtggaaaaca ctgaagagaa
      241 ccgccggcag ttccgagaaa tcctcttctc tgtggacagt tccatcaacc agagcatcgg
      301 gggtgtgatc cttttccacg agaccctcta ccagaaggac agccagggaa agctgttcag
      361 aaacatcctc aaggaaaagg ggatcgtggt gggaatcaag ttagaccaag gaggtgctcc
      421 tcttgcagga acaaacaaag aaaccaccat tcaagggctt gatggcctct cagagcgctg
      481 tgctcagtac aagaaagatg gtgttgactt tgggaagtgg cgtgctgtgc tgaggattgc
      541 cgaccagtgt ccatccagcc tcgctatcca ggaaaacgcc aacgccctgg ctcgctacgc
      601 cagcatctgt cagcagaatg gactggtacc tattgttgaa ccagaggtaa ttcctgatgg
      661 agaccatgac ctggaacact gccagtatgt tactgagaag gtcctggctg ctgtctacaa
      721 ggccctgaat gaccatcatg tttacctgga gggcaccctg ctaaagccca acatggtgac
      781 tgctggacat gcctgcacca agaagtatac tccagaacaa gtagctatgg ccaccgtaac
      841 agctctccac cgtactgttc ctgcagctgt tcctggcatc tgctttttgt ctggtggcat
      901 gagtgaagag gatgccactc tcaacctcaa tgctatcaac ctttgccctc taccaaagcc
      961 ctggaaacta agtttctctt atggacgggc cctgcaggcc agtgcactgg ctgcctgggg
     1021 tggcaaggct gcaaacaagg aggcaaccca ggaggctttt atgaagcggg ccatggctaa
     1081 ctgccaggcg gccaaaggac agtatgttca cacgggttct tctggggctg cttccaccca
     1141 gtcgctcttc acagcctgct atacctacta gggtccaatg cccgccagcc tagctccagt
     1201 gcttctagta ggagggctga aagggagcaa cttttcctcc aatcctggaa attcgacaca
     1261 attagatttg aactgctgga aatacaacac atgttaaatc ttaagtacaa gggggaaaaa
     1321 ataaatcagt tattgaaaca taaaaatgaa taccaaggac ctgatcaaat ttcacacagc
     1381 agtttccttg caacactttc agctccccat gctccagaat acccacccaa gaaaataata
     1441 ggctttaaaa caatatcggc tcctcatcca aagaacaact gctgattgaa acacctcatt
     1501 agctgagtgt agagaagtgc atcttatgaa acagtcttag cagtggtagg ttgggaagga
     1561 gatagctgca accaaaaaag aaataaatat tctataaacc ttcagctgct atcgggtttc
     1621 acttttctgc tcttgctgtc caaagactca gtgtatttca ttacttttga ctctactaga
     1681 catgactggg tttcaacagt aaaggtcttc aactcttgct agtcattgga atcaagccgc
     1741 aaaattttaa aaactgagat gctcaggcca caccccagct caattaaatc agaaacccta
     1801 gacttgggat cctctaacta ttagatttct taaagctccc tcagtaattc caatgtacag
     1861 tcaagtttga gaactaccaa tctaaatttc aagtttgagg gtatttgaaa attaaagcca
     1921 ttcacaatac gaagccagct aaaaatgtag aatgattttg agcaacttgt ggagtataat
     1981 aagagaatta atgtgacttc aatgcttgga gcattcttgt tcaagtggcc caggtttggt
     2041 gaaacaggac taccttgtca tctgcacgtc caggcatatt tcgtagtttt gcagtaaata
     2101 atattcacat aatgatactg tattgacttt caattttcag aattaaccta tagttacagc
     2161 acttaagaca accagagtta taaaagagaa tttaaatatt ataactttgg acaatataaa
     2221 agtgatgatt taactgacag aagctaggaa atataagggg gaggagaagt ggaagaaagc
     2281 aaagagagtc aggaatacta cttaaaactg atgggttaag aaatagtgct ttaattctat
     2341 ttaagtaata aaagaaatgg atgtaaatca taaaaatata tatctaaaat taaaatattg
     2401 atggtagtat gctaaatttc
//
LOCUS       NM_000036               2335 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript
            variant 1, mRNA.
ACCESSION   NM_000036
VERSION     NM_000036.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2335)
  AUTHORS   Leonska-Duniec A, Maculewicz E, Huminska-Lisowska K,
            Maciejewska-Skrendo A, Leznicka K, Cieszczyk P, Sawczuk M, Trybek G,
            Wilk M, Lepionka W and Ficek K.
  TITLE     AMPD1 C34T Polymorphism (rs17602729) Is Not Associated with
            Post-Exercise Changes of Body Weight, Body Composition, and
            Biochemical Parameters in Caucasian Females
  JOURNAL   Genes (Basel) 11 (5), 558 (2020)
   PUBMED   32429460
  REMARK    GeneRIF: AMPD1 C34T Polymorphism (rs17602729) Is Not Associated with
            Post-Exercise Changes of Body Weight, Body Composition, and
            Biochemical Parameters in Caucasian Females. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2335)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2335)
  AUTHORS   Mattii L, Bianchi F, Falleni A, Frascarelli S, Masini M, Ali G,
            Chiellini G and Sabbatini ARM.
  TITLE     Ultrastructural Localization of Histidine-rich Glycoprotein in
            Skeletal Muscle Fibers: Colocalization With AMP Deaminase
  JOURNAL   J Histochem Cytochem 68 (2), 139-148 (2020)
   PUBMED   31880188
  REMARK    GeneRIF: Ultrastructural Localization of Histidine-rich Glycoprotein
            in Skeletal Muscle Fibers: Colocalization With AMP Deaminase.
REFERENCE   4  (bases 1 to 2335)
  AUTHORS   Rannou F, Scotet V, Marcorelles P, Monnoyer R and Le Marechal C.
  TITLE     Effects of AMPD1 common mutation on the metabolic-chronotropic
            relationship: Insights from patients with myoadenylate deaminase
            deficiency
  JOURNAL   PLoS One 12 (11), e0187266 (2017)
   PUBMED   29095874
  REMARK    GeneRIF: The metabolic-chronotropic response is decreased in
            skeletal muscle MAD deficiency, suggesting a biological mechanism by
            which AMPD1 gene exerts cardiac effect Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 2335)
  AUTHORS   Bausch-Jurken MT, Mahnke-Zizelman DK, Morisaki T and Sabina RL.
  TITLE     Molecular cloning of AMP deaminase isoform L. Sequence and bacterial
            expression of human AMPD2 cDNA
  JOURNAL   J Biol Chem 267 (31), 22407-22413 (1992)
   PUBMED   1429593
REFERENCE   6  (bases 1 to 2335)
  AUTHORS   Mahnke-Zizelman DK and Sabina RL.
  TITLE     Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third
            AMPD gene exhibiting alternatively spliced 5'-exons
  JOURNAL   J Biol Chem 267 (29), 20866-20877 (1992)
   PUBMED   1400401
REFERENCE   7  (bases 1 to 2335)
  AUTHORS   Morisaki T, Gross M, Morisaki H, Pongratz D, Zollner N and Holmes
            EW.
  TITLE     Molecular basis of AMP deaminase deficiency in skeletal muscle
  JOURNAL   Proc Natl Acad Sci U S A 89 (14), 6457-6461 (1992)
   PUBMED   1631143
REFERENCE   8  (bases 1 to 2335)
  AUTHORS   Sabina RL, Fishbein WN, Pezeshkpour G, Clarke PR and Holmes EW.
  TITLE     Molecular analysis of the myoadenylate deaminase deficiencies
  JOURNAL   Neurology 42 (1), 170-179 (1992)
   PUBMED   1370861
REFERENCE   9  (bases 1 to 2335)
  AUTHORS   Sabina RL, Morisaki T, Clarke P, Eddy R, Shows TB, Morton CC and
            Holmes EW.
  TITLE     Characterization of the human and rat myoadenylate deaminase genes
  JOURNAL   J Biol Chem 265 (16), 9423-9433 (1990)
   PUBMED   2345176
REFERENCE   10  (bases 1 to 2335)
  AUTHORS   Fishbein,W.N., Armbrustmacher,V.W. and Griffin,J.L.
  TITLE     Myoadenylate deaminase deficiency: a new disease of muscle
  JOURNAL   Science 200 (4341), 545-548 (1978)
   PUBMED   644316
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000520113.7/ ENSP00000430075.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL096773.6.
            This sequence is a reference standard in the RefSeqGene project.
            On May 21, 2020 this sequence version replaced NM_000036.2.
            Summary: Adenosine monophosphate deaminase 1 catalyzes the
            deamination of AMP to IMP in skeletal muscle and plays an important
            role in the purine nucleotide cycle. Two other genes have been
            identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific
            isoforms, respectively. Deficiency of the muscle-specific enzyme is
            apparently a common cause of exercise-induced myopathy and probably
            the most common cause of metabolic myopathy in the human.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified in this gene.[provided by RefSeq, Feb
            2010].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..2335
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     gene            1..2335
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /note="adenosine monophosphate deaminase 1"
                     /db_xref="GeneID:270"
                     /db_xref="HGNC:HGNC:468"
                     /db_xref="MIM:102770"
     CDS             76..2319
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /EC_number="3.5.4.6"
                     /note="isoform 1 is encoded by transcript variant 1; AMPD;
                     skeletal muscle AMPD; adenosine monophosphate deaminase 1
                     (isoform M); AMP deaminase 1; adenosine monophosphate
                     deaminase-1 (muscle); myoadenylate deaminase"
                     /codon_start=1
                     /product="AMP deaminase 1 isoform 1"
                     /protein_id="NP_000027.3"
                     /db_xref="CCDS:CCDS876.3"
                     /db_xref="GeneID:270"
                     /db_xref="HGNC:HGNC:468"
                     /db_xref="MIM:102770"
                     /translation="MPLFKLPAEEKQIDDAMRNFAEKVFASEVKDEGGRQEISPFDVDE
                     ICPISHHEMQAHIFHLETLSTSTEARRKKRFQGRKTVNLSIPLSETSSTKLSHIDEYIS
                     SSPTYQTVPDFQRVQITGDYASGVTVEDFEIVCKGLYRALCIREKYMQKSFQRFPKTPS
                     KYLRNIDGEAWVANESFYPVFTPPVKKGEDPFRTDNLPENLGYHLKMKDGVVYVYPNEA
                     AVSKDEPKPLPYPNLDTFLDDMNFLLALIAQGPVKTYTHRRLKFLSSKFQVHQMLNEMD
                     ELKELKNNPHRDFYNCRKVDTHIHAAACMNQKHLLRFIKKSYQIDADRVVYSTKEKNLT
                     LKELFAKLKMHPYDLTVDSLDVHAGRQTFQRFDKFNDKYNPVGASELRDLYLKTDNYIN
                     GEYFATIIKEVGADLVEAKYQHAEPRLSIYGRSPDEWSKLSSWFVCNRIHCPNMTWMIQ
                     VPRIYDVFRSKNFLPHFGKMLENIFMPVFEATINPQADPELSVFLKHITGFDSVDDESK
                     HSGHMFSSKSPKPQEWTLEKNPSYTYYAYYMYANIMVLNSLRKERGMNTFLFRPHCGEA
                     GALTHLMTAFMIADDISHGLNLKKSPVLQYLFFLAQIPIAMSPLSNNSLFLEYAKNPFL
                     DFLQKGLMISLSTDDPMQFHFTKEPLMEEYAIAAQVFKLSTCDMCEVARNSVLQCGISH
                     EEKVKFLGDNYLEEGPAGNDIRRTNVAQIRMAYRYETWCYELNLIAEGLKSTE"
     misc_feature    316..318
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P10759; propagated from
                     UniProtKB/Swiss-Prot (P23109.3); phosphorylation site"
     misc_feature    328..330
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P10759; propagated from
                     UniProtKB/Swiss-Prot (P23109.3); phosphorylation site"
     misc_feature    721..723
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P10759; propagated from
                     UniProtKB/Swiss-Prot (P23109.3); phosphorylation site"
     misc_feature    1396..1398
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P10759; propagated from
                     UniProtKB/Swiss-Prot (P23109.3); phosphorylation site"
     regulatory      2315..2320
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /note="hexamer: AATAAA"
     polyA_site      2335
                     /gene="AMPD1"
                     /gene_synonym="MAD; MADA; MMDD"
                     /note="major polyA site"
ORIGIN
        1 gtcagtcagt caccccacag tctcctctct cttcttttct actgtgctat cctagaatca
       61 aggatttcag caacaatgcc tctgttcaaa ctcccagctg aagagaaaca aattgatgat
      121 gcaatgcgca actttgctga aaaagtgttt gcctctgaag tcaaagatga aggaggtcgt
      181 caggagattt ccccctttga tgtggatgag atctgtccga tttctcatca tgagatgcaa
      241 gcacacatat tccatctgga gactctgtcc acctccacag aagccaggag aaaaaagcgt
      301 ttccaaggac ggaagactgt taatttgtcc attccactaa gtgaaacatc ttccaccaaa
      361 ctgtcccaca ttgatgaata catttcctca tctccaacct accagaccgt gcctgatttt
      421 cagagagtgc agattactgg tgactatgcc tctggggtta cagttgaaga ttttgaaatt
      481 gtttgcaaag gtctgtatcg ggcactatgc atacgtgaga aatacatgca gaagtcgttt
      541 cagaggttcc ctaaaacccc ttccaaatac ttgcggaaca ttgatggtga ggcttgggta
      601 gcaaatgaga gcttctatcc agtctttact cctcctgtga agaagggaga ggaccccttc
      661 cgaacagaca accttcctga aaacctgggc tatcacctca aaatgaagga cggtgtagtt
      721 tacgtctatc ctaatgaagc agcagtcagc aaagatgagc ctaagccact tccttaccca
      781 aatctggaca ccttcttaga cgatatgaat tttttacttg ctttaattgc tcaaggacct
      841 gttaagacct atacccaccg gcgcctgaag ttcctctcct ccaagttcca ggtccatcag
      901 atgcttaacg agatggacga gttaaaggag ctgaaaaaca acccccaccg agatttttat
      961 aactgcagga aggtggacac ccatatccat gcagccgctt gcatgaacca gaaacatctg
     1021 ctgcgtttta ttaagaaatc ttaccaaatt gatgctgaca gagtggtcta tagcaccaaa
     1081 gagaagaatc tgaccctaaa ggaacttttt gctaaattaa aaatgcatcc ttatgacctg
     1141 actgttgatt ctctggatgt tcatgctgga cgccagacct tccagcgttt tgataagttc
     1201 aatgacaaat ataatcctgt aggagcaagt gagctacggg acctctactt gaagacagac
     1261 aattacatta atggggaata ttttgccact atcatcaagg aggtaggtgc ggacctggtg
     1321 gaggccaagt accagcatgc tgagccccgc ctgtccatct atggccgcag tcctgatgag
     1381 tggagcaaac tctcctcctg gttcgtctgc aatcgcatcc actgccccaa catgacatgg
     1441 atgatccagg ttcccaggat ctatgatgtg ttccgttcca agaatttcct tccacatttt
     1501 ggaaaaatgc tggagaatat tttcatgcca gtgtttgagg ccaccatcaa cccccaggct
     1561 gacccagaac tcagtgtctt cctcaagcat atcactggct ttgacagtgt ggatgatgag
     1621 tccaaacaca gtggccacat gttctcctcc aagagtccca agccccagga gtggacattg
     1681 gaaaagaatc catcttacac ttactatgcc tactacatgt atgcaaacat catggtgctc
     1741 aacagcctga gaaaggaacg aggcatgaat acgtttctgt tccgacctca ctgtggagaa
     1801 gctggagccc tcacccatct catgacagca ttcatgatag cagatgatat ctctcatggc
     1861 ctaaatttaa aaaagagtcc cgtgctacag tacttgtttt tcttagccca aattcccatc
     1921 gccatgtcac cactaagtaa caatagccta tttctagagt atgccaaaaa tccttttttg
     1981 gatttccttc agaaagggct aatgatctca ctgtctacag atgacccaat gcaattccac
     2041 tttaccaagg agcccctaat ggaagaatat gctattgctg cacaagtctt caagctgagc
     2101 acctgtgata tgtgcgaagt ggcaaggaac agtgtcttgc agtgtggaat ttctcatgag
     2161 gagaaagtaa agtttctggg cgacaattac cttgaggaag gccctgctgg aaatgatatc
     2221 cggaggacaa atgtagccca aatccgcatg gcctatcgct atgaaacctg gtgttatgaa
     2281 ctcaatttaa ttgctgaggg tcttaaatca acagaataaa aaaaagtaaa ccaaa
//
LOCUS       NM_000037               8292 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens ankyrin 1 (ANK1), transcript variant 3, mRNA.
ACCESSION   NM_000037
VERSION     NM_000037.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8292)
  AUTHORS   Lu Z, Zhang H, Yang Y and Zhao H.
  TITLE     Sex differences of the shared genetic landscapes between type 2
            diabetes and peripheral artery disease in East Asians and Europeans
  JOURNAL   Hum Genet 142 (7), 965-980 (2023)
   PUBMED   37341850
  REMARK    GeneRIF: Sex differences of the shared genetic landscapes between
            type 2 diabetes and peripheral artery disease in East Asians and
            Europeans.
REFERENCE   2  (bases 1 to 8292)
  AUTHORS   More TA, Devendra R, Dongerdiye R, Warang P and Kedar P.
  TITLE     Targeted next-generation sequencing identifies novel deleterious
            variants in ANK1 gene causing severe hereditary spherocytosis in
            Indian patients: expanding the molecular and clinical spectrum
  JOURNAL   Mol Genet Genomics 298 (2), 427-439 (2023)
   PUBMED   36598564
  REMARK    GeneRIF: Targeted next-generation sequencing identifies novel
            deleterious variants in ANK1 gene causing severe hereditary
            spherocytosis in Indian patients: expanding the molecular and
            clinical spectrum.
REFERENCE   3  (bases 1 to 8292)
  AUTHORS   Wang Y, Huang L, Zhu Y, An X, Li J, Zhen J and Yu J.
  TITLE     De novo variations of ANK1 gene caused hereditary spherocytosis in
            two Chinese children by affecting pre-mRNA splicing
  JOURNAL   BMC Pediatr 23 (1), 23 (2023)
   PUBMED   36647015
  REMARK    GeneRIF: De novo variations of ANK1 gene caused hereditary
            spherocytosis in two Chinese children by affecting pre-mRNA
            splicing. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 8292)
  AUTHORS   Xu L, Wei X, Liang G, Zhu D, Zhang Y, Zhang Y and Shang X.
  TITLE     A novel splicing mutation of ANK1 is associated with phenotypic
            heterogeneity of hereditary spherocytosis in a Chinese family
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1869 (1), 166595 (2023)
   PUBMED   36336297
  REMARK    GeneRIF: A novel splicing mutation of ANK1 is associated with
            phenotypic heterogeneity of hereditary spherocytosis in a Chinese
            family.
REFERENCE   5  (bases 1 to 8292)
  AUTHORS   Vallese F, Kim K, Yen LY, Johnston JD, Noble AJ, Cali T and Clarke
            OB.
  TITLE     Architecture of the human erythrocyte ankyrin-1 complex
  JOURNAL   Nat Struct Mol Biol 29 (7), 706-718 (2022)
   PUBMED   35835865
REFERENCE   6  (bases 1 to 8292)
  AUTHORS   Fujimoto T, Lee K, Miwa S and Ogawa K.
  TITLE     Immunocytochemical localization of fodrin and ankyrin in bovine
            chromaffin cells in vitro
  JOURNAL   J Histochem Cytochem 39 (11), 1485-1493 (1991)
   PUBMED   1833445
REFERENCE   7  (bases 1 to 8292)
  AUTHORS   Lux SE, John KM and Bennett V.
  TITLE     Analysis of cDNA for human erythrocyte ankyrin indicates a repeated
            structure with homology to tissue-differentiation and cell-cycle
            control proteins
  JOURNAL   Nature 344 (6261), 36-42 (1990)
   PUBMED   2137557
REFERENCE   8  (bases 1 to 8292)
  AUTHORS   Lambert S, Yu H, Prchal JT, Lawler J, Ruff P, Speicher D, Cheung MC,
            Kan YW and Palek J.
  TITLE     cDNA sequence for human erythrocyte ankyrin
  JOURNAL   Proc Natl Acad Sci U S A 87 (5), 1730-1734 (1990)
   PUBMED   1689849
REFERENCE   9  (bases 1 to 8292)
  AUTHORS   Bennett,V.
  TITLE     Immunoreactive forms of human erythrocyte ankyrin are present in
            diverse cells and tissues
  JOURNAL   Nature 281 (5732), 597-599 (1979)
   PUBMED   492324
REFERENCE   10  (bases 1 to 8292)
  AUTHORS   Bennett,V. and Stenbuck,P.J.
  TITLE     The membrane attachment protein for spectrin is associated with band
            3 in human erythrocyte membranes
  JOURNAL   Nature 280 (5722), 468-473 (1979)
   PUBMED   379653
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M28880.1, SRR14038196.1349941.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000289734.13/ ENSP00000289734.8
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M28880.1, AB209418.1, X16609.1,
            AC113133.5 and N63745.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000037.3.
            Summary: Ankyrins are a family of proteins that link the integral
            membrane proteins to the underlying spectrin-actin cytoskeleton and
            play key roles in activities such as cell motility, activation,
            proliferation, contact and the maintenance of specialized membrane
            domains. Multiple isoforms of ankyrin with different affinities for
            various target proteins are expressed in a tissue-specific,
            developmentally regulated manner. Most ankyrins are typically
            composed of three structural domains: an amino-terminal domain
            containing multiple ankyrin repeats; a central region with a highly
            conserved spectrin binding domain; and a carboxy-terminal
            regulatory domain which is the least conserved and subject to
            variation. Ankyrin 1, the prototype of this family, was first
            discovered in the erythrocytes, but since has also been found in
            brain and muscles. Mutations in erythrocytic ankyrin 1 have been
            associated in approximately half of all patients with hereditary
            spherocytosis. Complex patterns of alternative splicing in the
            regulatory domain, giving rise to different isoforms of ankyrin 1
            have been described. Truncated muscle-specific isoforms of ankyrin
            1 resulting from usage of an alternate promoter have also been
            identified. [provided by RefSeq, Dec 2008].
            Transcript Variant: This variant (3) has an alternate segment in
            the 3' coding region, which includes a stop codon, compared to
            variant 1. The resulting isoform (3) has a distinct and one aa
            shorter C-terminus, compared to isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..8292
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.21"
     gene            1..8292
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="ankyrin 1"
                     /db_xref="GeneID:286"
                     /db_xref="HGNC:HGNC:492"
                     /db_xref="MIM:612641"
     misc_feature    73..75
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="upstream in-frame stop codon"
     CDS             85..5727
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="isoform 3 is encoded by transcript variant 3;
                     ankyrin-R; ANK-1; erythrocyte ankyrin; ankyrin 1,
                     erythrocytic"
                     /codon_start=1
                     /product="ankyrin-1 isoform 3"
                     /protein_id="NP_000028.3"
                     /db_xref="CCDS:CCDS6121.1"
                     /db_xref="GeneID:286"
                     /db_xref="HGNC:HGNC:492"
                     /db_xref="MIM:612641"
                     /translation="MPYSVGFREADAATSFLRAARSGNLDKALDHLRNGVDINTCNQNG
                     LNGLHLASKEGHVKMVVELLHKEIILETTTKKGNTALHIAALAGQDEVVRELVNYGANV
                     NAQSQKGFTPLYMAAQENHLEVVKFLLENGANQNVATEDGFTPLAVALQQGHENVVAHL
                     INYGTKGKVRLPALHIAARNDDTRTAAVLLQNDPNPDVLSKTGFTPLHIAAHYENLNVA
                     QLLLNRGASVNFTPQNGITPLHIASRRGNVIMVRLLLDRGAQIETKTKDELTPLHCAAR
                     NGHVRISEILLDHGAPIQAKTKNGLSPIHMAAQGDHLDCVRLLLQYDAEIDDITLDHLT
                     PLHVAAHCGHHRVAKVLLDKGAKPNSRALNGFTPLHIACKKNHVRVMELLLKTGASIDA
                     VTESGLTPLHVASFMGHLPIVKNLLQRGASPNVSNVKVETPLHMAARAGHTEVAKYLLQ
                     NKAKVNAKAKDDQTPLHCAARIGHTNMVKLLLENNANPNLATTAGHTPLHIAAREGHVE
                     TVLALLEKEASQACMTKKGFTPLHVAAKYGKVRVAELLLERDAHPNAAGKNGLTPLHVA
                     VHHNNLDIVKLLLPRGGSPHSPAWNGYTPLHIAAKQNQVEVARSLLQYGGSANAESVQG
                     VTPLHLAAQEGHAEMVALLLSKQANGNLGNKSGLTPLHLVAQEGHVPVADVLIKHGVMV
                     DATTRMGYTPLHVASHYGNIKLVKFLLQHQADVNAKTKLGYSPLHQAAQQGHTDIVTLL
                     LKNGASPNEVSSDGTTPLAIAKRLGYISVTDVLKVVTDETSFVLVSDKHRMSFPETVDE
                     ILDVSEDEGEELISFKAERRDSRDVDEEKELLDFVPKLDQVVESPAIPRIPCAMPETVV
                     IRSEEQEQASKEYDEDSLIPSSPATETSDNISPVASPVHTGFLVSFMVDARGGSMRGSR
                     HNGLRVVIPPRTCAAPTRITCRLVKPQKLSTPPPLAEEEGLASRIIALGPTGAQFLSPV
                     IVEIPHFASHGRGDRELVVLRSENGSVWKEHRSRYGESYLDQILNGMDEELGSLEELEK
                     KRVCRIITTDFPLYFVIMSRLCQDYDTIGPEGGSLKSKLVPLVQATFPENAVTKRVKLA
                     LQAQPVPDELVTKLLGNQATFSPIVTVEPRRRKFHRPIGLRIPLPPSWTDNPRDSGEGD
                     TTSLRLLCSVIGGTDQAQWEDITGTTKLVYANECANFTTNVSARFWLSDCPRTAEAVNF
                     ATLLYKELTAVPYMAKFVIFAKMNDPREGRLRCYCMTDDKVDKTLEQHENFVEVARSRD
                     IEVLEGMSLFAELSGNLVPVKKAAQQRSFHFQSFRENRLAMPVKVRDSSREPGGSLSFL
                     RKAMKYEDTQHILCHLNITMPPCAKGSGAEDRRRTPTPLALRYSILSESTPGSLSGTEQ
                     AEMKMAVISEHLGLSWAELARELQFSVEDINRIRVENPNSLLEQSVALLNLWVIREGQN
                     ANMENLYTALQSIDRGEIVNMLEGSGRQSRNLKPDRRHTDRDYSLSPSQMNGYSSLQDE
                     LLSPASLGCALSSPLRADQYWNEVAVLDAIPLAATEHDTMLEMSDMQVWSAGLTPSLVT
                     AEDSSLECSKAEDSDATGHEWKLEGALSEEPRGPELGSLELVEDDTVDSDATNGLIDLL
                     EQEEGQRSEEKLPGSKRQDDATGAGQDSENEVSLVSGHQRGQARITHSPTVSQVTERSQ
                     DRLQDWDADGSIVSYLQDAAQGSWQEEVTQGPHSFQGTSTMTEGLEPGGSQEYEKVLVS
                     VSEHTWTEQPEAESSQADRDRRQQGQEEQVQEAKNTFTQVVQGNEFQNIPGEQVTEEQF
                     TDEQGNIVTKKIIRKVVRQIDLSSADAAQEHEEVELRGSGLQPDLIEGRKGAQIVKRAS
                     LKRGKQ"
     misc_feature    85..2565
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P16157.3);
                     Region: 89 kDa domain"
     misc_feature    397..399
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); hydroxylation site"
     misc_feature    781..783
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); hydroxylation site"
     misc_feature    1369..1371
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    1375..1377
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); hydroxylation site"
     misc_feature    1474..1476
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); hydroxylation site"
     misc_feature    1969..1971
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); hydroxylation site"
     misc_feature    2068..2070
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); hydroxylation site"
     misc_feature    2167..2169
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="(3S)-3-hydroxyaspartate, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); hydroxylation site"
     misc_feature    2266..2268
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); hydroxylation site"
     misc_feature    2359..2361
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    2365..2367
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="(3S)-3-hydroxyasparagine, by HIF1AN, partial.
                     /evidence=ECO:0000269|PubMed:21177872; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); hydroxylation site"
     misc_feature    2425..2427
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    2533..2535
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    2584..2586
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    2650..2652
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    2707..2796
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P16157.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2965..2967
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q02357; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    3301..3303
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q02357; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    3328..3330
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q02357; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    3784..4170
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P16157.3);
                     Region: UPA domain. /evidence=ECO:0000250"
     misc_feature    4216..4218
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    4222..4224
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    4252..4254
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q02357; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    4258..4260
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q02357; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    4270..4272
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    4282..4284
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q02357; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    4366..4368
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    4540..4614
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P16157.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4540..4542
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    4651..4653
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    4681..4683
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    4831..4923
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P16157.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4933..4935
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q02357; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    4993..5193
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P16157.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5080..5082
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    5095..5097
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    5140..5142
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    5152..5154
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    5170..5172
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16157.3); phosphorylation site"
     misc_feature    5236..5457
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P16157.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      6797..6802
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="hexamer: AATAAA"
     polyA_site      6817
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="major polyA site"
     regulatory      8270..8275
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="hexamer: AATAAA"
     polyA_site      8292
                     /gene="ANK1"
                     /gene_synonym="ANK; ankyrin-1; SPH1; SPH2"
                     /note="major polyA site"
ORIGIN
        1 agaggctgcg gtgagtccgc cagccccagc tgctcctcct caagccccca aggcccttcg
       61 gcgggcccct gctgaaagac cggcatgccc tattctgtgg gcttccgcga agccgatgct
      121 gctaccagct ttctgagagc agcaagatca ggtaacttgg acaaagcttt ggatcacctg
      181 cggaatgggg tagatattaa cacctgtaac cagaatgggt tgaatggctt gcatctggct
      241 tctaaggaag gccatgtgaa aatggtggtt gaacttctgc acaaagaaat cattctagaa
      301 acgacaacca agaaggggaa cacggccctg cacatcgctg ctctagccgg gcaggatgag
      361 gtggtccggg agcttgtcaa ctatggagcc aacgtcaacg cccagtcaca gaaaggtttt
      421 acacccctgt acatggcagc acaagagaac cacttggaag tggttaagtt tttactggaa
      481 aatggagcta accagaatgt agccacagaa gacggcttca cgcctctggc ggtagccctg
      541 cagcagggcc atgagaacgt cgtcgcgcac ctcatcaact acggcaccaa ggggaaggtg
      601 cgcctcccgg ccctgcacat cgcggcccgc aacgacgaca cgcgcacggc tgcggtgctg
      661 ctgcagaacg accccaaccc ggacgtgctt tccaagacgg gattcacgcc cctgcacatt
      721 gcggctcact acgagaacct caacgtggcc cagttgctcc tcaacagagg agccagcgtc
      781 aatttcacac cacagaacgg catcacgcca ctgcacatcg cctcccgcag gggcaacgtg
      841 atcatggtgc ggctgctgct ggatcgggga gcccagatag aaaccaagac caaggacgaa
      901 ttgacacctc tccactgtgc agctcgaaat gggcacgtgc gaatctcaga gatcctgctg
      961 gaccacgggg caccaatcca agccaaaacc aagaacggcc tgtccccaat tcacatggcg
     1021 gctcagggag accacctcga ctgtgtccgg ctcctgttgc aatacgacgc agagatagac
     1081 gacatcaccc tggaccacct gaccccactc cacgtggctg cccactgtgg acaccacagg
     1141 gtggctaagg tccttctgga taaaggggcc aaacccaact ccagagccct gaatggcttt
     1201 acccccttac acatcgcctg caaaaagaac cacgtccgtg tcatggagct gctgctgaag
     1261 acgggagcct cgatcgacgc ggtcaccgag tctggcctga cacctctcca cgtggcctcc
     1321 ttcatggggc accttcccat cgtgaagaac ctcctgcagc ggggggcgtc gcccaacgtc
     1381 tccaacgtga aagtggagac cccgctacac atggcagcca gagccgggca cacggaagtg
     1441 gccaaatatt tactccagaa caaagccaaa gtcaatgcca aggccaagga tgaccagacc
     1501 ccacttcact gtgcagctcg catcggccac acaaacatgg tgaagctcct gctggaaaat
     1561 aacgccaacc ccaacctggc caccaccgcc gggcacaccc ccctgcacat tgcagcccgt
     1621 gagggccatg tggaaacagt cctggccctt ctggaaaagg aagcatccca ggcctgcatg
     1681 accaagaaag gatttacccc tctgcacgtg gcggccaagt acgggaaggt gcgggtggca
     1741 gagctgctgc tggagcggga cgcacacccg aatgctgccg gaaaaaatgg cctgaccccc
     1801 ctgcacgtgg ccgtccatca caacaacctg gacatcgtca agctgctgct tccccggggc
     1861 ggctccccgc acagccctgc ctggaatggc tacacccctt tgcacatcgc tgccaagcag
     1921 aaccaggtgg aggtggcccg tagtctgctg cagtatgggg gctcagcaaa cgccgagtcg
     1981 gtgcaaggtg tgacgcccct tcacctggcc gcccaggagg gccacgcaga gatggtggct
     2041 ctgctgctct cgaaacaagc caatggcaac ctggggaaca agagcggact cactcccctc
     2101 catctggtag cacaagaagg ccacgttcca gtggcagatg tgctgatcaa acacggcgtc
     2161 atggtggacg ccaccacccg gatgggctac actcccctcc atgtggccag tcactatgga
     2221 aacatcaagc tggtgaagtt tctgctgcag caccaggcag atgtcaatgc caagaccaag
     2281 ctaggataca gccccctgca ccaggcagcc cagcagggac acacagacat cgtgactctg
     2341 cttctgaaaa acggtgcttc cccaaacgag gtcagctcgg atggaaccac acctctggcc
     2401 atagccaagc gcttgggcta catttctgtc accgacgtgc tcaaggtcgt cacggatgaa
     2461 accagtttcg tgttagtcag tgataagcat cgaatgagtt tccctgagac agttgatgag
     2521 atcctggatg tctcggaaga tgaaggggaa gaactcatca gcttcaaggc tgagaggcgg
     2581 gattccaggg atgttgatga agagaaggag ctgctggatt ttgtgccgaa gctagaccaa
     2641 gtggtggaat ctccagccat ccccaggatt ccctgtgcca tgcctgagac agtggtgatc
     2701 aggtcagaag agcaggagca ggcatctaaa gagtatgatg aggactccct catccccagc
     2761 agcccggcca ccgagacctc agacaacatc agcccggtgg ccagcccggt gcatacaggg
     2821 tttctggtga gcttcatggt tgacgcccgg ggtggttcca tgagaggaag tcgccacaac
     2881 ggcctgcgag tggtgatccc gccacggacg tgcgcagcgc ccacccgcat cacctgccgc
     2941 ctggtcaagc cccagaagct cagcacgccg cccccactgg ccgaggagga gggcctggcc
     3001 agcaggatca tagcactggg gcccacgggg gcacagttcc tgagccctgt aatcgtggag
     3061 atcccgcact ttgcctccca tggccgtgga gaccgcgagc tcgtggttct gaggagcgaa
     3121 aacggctccg tgtggaagga gcacaggagc cgctatggag agagctacct ggatcagatc
     3181 ctcaacggga tggacgaaga gctggggagc ctggaggagc tagagaagaa gagggtgtgc
     3241 cgaatcatca ccaccgactt cccgctgtac ttcgtgatca tgtcacggct ctgccaggac
     3301 tacgacacca tcggtcccga agggggctcc ctgaagagca agctggtgcc cctggtacag
     3361 gcaacgttcc cggagaatgc cgtcaccaag agagtgaagc tggctctgca ggcccagcct
     3421 gtcccggatg agcttgtcac taagctcctg ggcaaccagg ccacattcag ccccattgtc
     3481 accgtggagc cccggcgccg gaagttccac cgccccattg ggcttcggat cccactacct
     3541 ccttcctgga ccgacaaccc gagggacagc ggggagggag acaccaccag cctgcgcctg
     3601 ctttgcagcg tcattggagg aacagaccaa gcccagtggg aagacataac aggaaccacc
     3661 aaacttgtat atgccaacga gtgcgccaac ttcaccacca atgtctctgc caggttttgg
     3721 ctgtcggact gtcctcggac tgctgaggct gtgaactttg ccaccctgct gtacaaagag
     3781 ctcactgcag tgccctacat ggccaaattc gtcatctttg ccaagatgaa tgacccccga
     3841 gaggggcgcc tgcgctgcta ctgcatgaca gatgataaag tggacaagac cctggagcag
     3901 catgagaact tcgtggaggt ggcccggagc agggacatag aggtgttgga aggaatgtcc
     3961 ctgtttgcag aactctctgg gaacctggtg cctgtgaaga aagctgccca gcagcggagc
     4021 ttccacttcc agtcatttcg ggagaaccgt ctggccatgc ctgtaaaggt gagggacagc
     4081 agtcgagagc cgggagggtc cctgtcgttt ctgcgcaagg cgatgaagta cgaggacacc
     4141 cagcacattc tctgccacct gaacatcacc atgcccccct gcgccaaggg aagtggagcc
     4201 gaagatagga gaaggacccc gacgcccctg gccctgcgat acagcattct cagtgagtcc
     4261 acaccaggtt ctctcagtgg gacagagcag gcagagatga agatggctgt tatctcagag
     4321 cacctcggtc tcagctgggc agagttggcc cgggagctgc agttcagtgt ggaagacatc
     4381 aacaggatcc gagtggaaaa tcccaactcc ctgttggagc agagtgtggc cttgctgaac
     4441 ctctgggtca tccgtgaagg ccaaaacgca aacatggaga atctgtacac agccctgcag
     4501 agcattgacc gtggcgagat cgtgaacatg ctggagggtt ccggccgaca gagccgcaac
     4561 ttgaagccag acaggcggca caccgaccgc gactactcgc tgtcaccctc ccagatgaat
     4621 ggttactcct cactgcagga cgagctgctg tcccctgcct ccctgggctg tgcactttcc
     4681 tctccgctac gtgcagacca gtactggaat gaggtggccg tcctagacgc catccccttg
     4741 gcggccacgg agcatgacac catgctggag atgtctgaca tgcaggtgtg gtctgcgggc
     4801 ctcacgcctt ctctggtcac tgctgaggac tcctctctgg agtgtagcaa ggctgaggac
     4861 tctgatgcca caggtcacga gtggaagttg gagggggcac tctcagagga accgcggggc
     4921 cccgagttgg gctctctgga acttgtggag gacgacacag tggattcaga tgccacaaat
     4981 ggccttatcg atttgcttga acaggaggaa ggtcagaggt cagaagagaa gctgccaggt
     5041 tctaagaggc aggatgacgc gacaggtgca gggcaggact cagagaatga agtgtctctt
     5101 gtttcaggcc atcagagggg gcaagcccga atcacacatt cccccaccgt gagtcaggtg
     5161 acggagagga gtcaggacag actgcaggac tgggatgcag acggctcgat tgtctcatac
     5221 ctgcaagatg ctgcacaagg ttcctggcaa gaggaggtca cgcaaggtcc acactcattc
     5281 cagggaacaa gtaccatgac tgaagggcta gagcccggtg gatctcagga gtacgagaag
     5341 gtcctggtgt ctgtaagtga gcacacgtgg acagaacagc ccgaggctga gagctcccag
     5401 gccgacaggg accggaggca gcaaggccaa gaagagcagg tgcaggaggc caagaacacc
     5461 ttcacccaag tggtgcaggg gaatgagttt cagaatattc caggggagca ggtgacagag
     5521 gagcaattca cggatgagca gggcaacatt gtcaccaaga agatcattcg caaggtggtt
     5581 cgacagatag acttgtccag cgccgatgcc gcccaggagc acgaggaggt ggagctgaga
     5641 gggagtggcc tacagccgga cctgatagag ggcaggaagg gggcgcagat agtgaagcgg
     5701 gccagcctga aaagggggaa acagtgaccc cgagccgctc tccttggagt agcctctcgg
     5761 gaggatcaca cctcgacacc caacccctga accccacaca ctctgccatg cacacaggag
     5821 gagagctgga cctgagggcc accgcagcgg tgcacacatt cctctgggct gacggcatga
     5881 cctctgtaag ggactcctgc tagtcccctc ttggcatgaa tgactgactg tagacgcatg
     5941 acctccaggc ttcaatcctg cctcttgcaa tgacagctga tctgtcggaa ccaggacaca
     6001 aaagcagcaa gaagcgggga gagagaggga tagaaaacaa gcgcaggaga gcctgcgaac
     6061 gcaaaagtga atgagggctt tttgtggctg gggatgggtt ttggttttgg ggtttttttt
     6121 ttaaattgtt ttgacttcgt acagggtact ttttcccaac ctcatctgtc agaaatccat
     6181 gtgggcttcc tggaaagaaa aaaaaaaaaa agaaaactag gcatgaaatc agtttaacac
     6241 cttaatctta agccatgtcc tcatctgccc accctcccca acccacatac ctccattcca
     6301 cttgtgacac cccctcgact ccctggtgac gctcctccca gatcgctcta catgacattc
     6361 aggacacaca cacacacaca cacacaccac tcgcctccac tgaatctaca cacagatttt
     6421 actgtgactt ctgaagctgt atagactctg ctgtggataa attggaattt tttatgttgt
     6481 ctctctctct gccaatttca atacgaatca tcttccaatg gaaaatcatt accttgaaga
     6541 gtgcattcgg ggttccttgt gttagggact taagaatctg aggcgaggac ccccaggctt
     6601 acctgtagga ctcaaaggga gccaggaccc catctgaaag ggtctcctct ctcagttggg
     6661 ggacaggccg gtggctgacc caggattgca ccagcatgtc catagagaag aggttttcta
     6721 tgtcttcaag cactatatca tagtccgtgt tcaaagtgta aactgtacag taatcagcct
     6781 tgtgtatatg aaaaacaata aatactatgc aaaccaatag aaacatttag cagtacgtac
     6841 agagcctgac agcgcagctc ctgaggactt ctgcggctgc aggagaagga gctgtggcct
     6901 gtctttcagt gaaagaggaa ggaaaggagt agggctagtg aatgtatctg ccaggtctta
     6961 gaagtcagga ccacccaggg tctcccagag tgaacttggt gctctaagtc caggcagcct
     7021 gcaggctggg gaccctgggt gcaggtgcca ggctcgaggc tgttccctgt cctgcctcag
     7081 tgcctcccct ctgcccagcc cctgtggcct cttggagagg cgagccaggg ggctccccgg
     7141 accgcatggc cggtgagagt agagtcggag gcggagagcc tggacgccca gaggccgggg
     7201 ccaggctctg ggtcaaggca ggaaggagac agacagctgg cagttcctcg cctcggtgcc
     7261 atcagggagg agccttaagt tccactagag cctccggccc agggaggcca gaatcagcac
     7321 aatcccggcc ccgccctcgc ggcgggcgcc cccagggcca ggagagagag acagggctgg
     7381 ctcctctcgc ccctggagcc gcggtgtgga cggcccggcc ccgtccgccc cgccgctctg
     7441 cgggagtgtc ctcgggacac acttaaacct tccaagtagc acagaagccc cctccacgtc
     7501 agaggccccc tggccgcggg gcctgtgagc ggagaggggc cctgcttccc acacaaatcc
     7561 gccccggtgc acccccggcc aggcaggccc cggggcggcc taggcgcctt gtcggccggg
     7621 ggtggggctg cttttgcttc ctttagaggg gcgggcaggg agaggaagct ctagctccgg
     7681 gcctgagttt ccccgaggct gcgtcggagg agctgcaggg cgagcccgga cggctgccgt
     7741 ctccgccaga ggccaccccg gcccggcctc cagggcgcag aggcgccccc ctccatcctc
     7801 ccccatcccg ggggccacgg caggggggcc gcacagcgcg gctgggaccg attcggtgac
     7861 ggcccaagga agctgggctc agggctcgcc tctcccgcct cgatcctgca ccttcctctc
     7921 ccaggtcgct gctgcagcca acccagtagc ccccttagcg cccccgcgga ccccgcagct
     7981 ccagactccg ctttggcacc tctgctccgg ctggcatggc tgcacgctcc ggctgctagt
     8041 aggagccgtt aggggaggag tttggggtct ccacacgatg cctagagaat gctgcagtct
     8101 gcacattaga cgctttttag aagttttgaa attaccttga tttttttaat tgttatgaaa
     8161 atggatcttt tcttgactct cccacatgct ctgttatggg agagaatccc ctaccctact
     8221 ctgatgtata gaccattctc ccttcaccag ccgaaccaat gtcaaaatta ataaagaaat
     8281 ggactaatgg ca
//
LOCUS       NM_000038              10704 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens APC regulator of WNT signaling pathway (APC),
            transcript variant 3, mRNA.
ACCESSION   NM_000038
VERSION     NM_000038.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10704)
  AUTHORS   Abbott J and Nathke IS.
  TITLE     The adenomatous polyposis coli protein 30 years on
  JOURNAL   Semin Cell Dev Biol 150-151, 28-34 (2023)
   PUBMED   37095033
  REMARK    GeneRIF: The adenomatous polyposis coli protein 30 years on. Review
            article
REFERENCE   2  (bases 1 to 10704)
  AUTHORS   Ali A, Nimisha, Sharma AK, Mishra PK and Saluja SS.
  TITLE     Clinical significance of SPOP and APC gene alterations in colorectal
            cancer in Indian population
  JOURNAL   Mol Genet Genomics 298 (5), 1087-1105 (2023)
   PUBMED   37289229
  REMARK    GeneRIF: Clinical significance of SPOP and APC gene alterations in
            colorectal cancer in Indian population.
REFERENCE   3  (bases 1 to 10704)
  AUTHORS   Wang J and Liu G.
  TITLE     Long noncoding RNA UFC1 acts as an oncogene via stimulating
            EZH2-induced inhibition of APC expression in renal cell carcinoma
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 69 (4), 152-156 (2023)
   PUBMED   37329532
  REMARK    GeneRIF: Long noncoding RNA UFC1 acts as an oncogene via stimulating
            EZH2-induced inhibition of APC expression in renal cell carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 10704)
  AUTHORS   Lambertz S and Ballhausen WG.
  TITLE     Identification of an alternative 5' untranslated region of the
            adenomatous polyposis coli gene
  JOURNAL   Hum Genet 90 (6), 650-652 (1993)
   PUBMED   8383094
REFERENCE   5  (bases 1 to 10704)
  AUTHORS   Yen,T., Stanich,P.P., Axell,L. and Patel,S.G.
  TITLE     APC-Associated Polyposis Conditions
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301519
REFERENCE   6  (bases 1 to 10704)
  AUTHORS   Nakatsuru S, Yanagisawa A, Ichii S, Tahara E, Kato Y, Nakamura Y and
            Horii A.
  TITLE     Somatic mutation of the APC gene in gastric cancer: frequent
            mutations in very well differentiated adenocarcinoma and signet-ring
            cell carcinoma
  JOURNAL   Hum Mol Genet 1 (8), 559-563 (1992)
   PUBMED   1338691
REFERENCE   7  (bases 1 to 10704)
  AUTHORS   Miki Y, Nishisho I, Horii A, Miyoshi Y, Utsunomiya J, Kinzler KW,
            Vogelstein B and Nakamura Y.
  TITLE     Disruption of the APC gene by a retrotransposal insertion of L1
            sequence in a colon cancer
  JOURNAL   Cancer Res 52 (3), 643-645 (1992)
   PUBMED   1310068
REFERENCE   8  (bases 1 to 10704)
  AUTHORS   Nagase H, Miyoshi Y, Horii A, Aoki T, Petersen GM, Vogelstein B,
            Maher E, Ogawa M, Maruyama M, Utsunomiya J et al.
  TITLE     Screening for germ-line mutations in familial adenomatous polyposis
            patients: 61 new patients and a summary of 150 unrelated patients
  JOURNAL   Hum Mutat 1 (6), 467-473 (1992)
   PUBMED   1338764
REFERENCE   9  (bases 1 to 10704)
  AUTHORS   Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama
            K, Utsunomiya J, Baba S and Hedge P.
  TITLE     Mutations of chromosome 5q21 genes in FAP and colorectal cancer
            patients
  JOURNAL   Science 253 (5020), 665-669 (1991)
   PUBMED   1651563
REFERENCE   10  (bases 1 to 10704)
  AUTHORS   Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB,
            Smith KJ, Preisinger AC, Hedge P, McKechnie D et al.
  TITLE     Identification of FAP locus genes from chromosome 5q21
  JOURNAL   Science 253 (5020), 661-665 (1991)
   PUBMED   1651562
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.217786.1, M73548.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000257430.9/ ENSP00000257430.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA795663.1, M73548.1,
            AB210001.1 and CA313732.1.
            On Nov 22, 2018 this sequence version replaced NM_000038.5.
            Summary: This gene encodes a tumor suppressor protein that acts as
            an antagonist of the Wnt signaling pathway. It is also involved in
            other processes including cell migration and adhesion,
            transcriptional activation, and apoptosis. Defects in this gene
            cause familial adenomatous polyposis (FAP), an autosomal dominant
            pre-malignant disease that usually progresses to malignancy.
            Mutations in the APC gene have been found to occur in most
            colorectal cancers, where disease-associated mutations tend to be
            clustered in a small region designated the mutation cluster region
            (MCR) and result in a truncated protein product. [provided by
            RefSeq, Jun 2022].
            Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at an
            alternate start codon, compared to variant 1. This variant also
            contains an alternate in-frame exon compared to variant 1. The
            encoded isoform (b) has a distinct N-terminus and is longer than
            isoform a. Variants 2, 3, and 4 all encode the same isoform (b).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..10704
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q22.2"
     gene            1..10704
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="APC regulator of WNT signaling pathway"
                     /db_xref="GeneID:324"
                     /db_xref="HGNC:HGNC:583"
                     /db_xref="MIM:611731"
     misc_feature    51..53
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="upstream in-frame stop codon"
     CDS             60..8591
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="isoform b is encoded by transcript variant 3;
                     adenomatous polyposis coli protein; WNT signaling pathway
                     regulator; adenomatosis polyposis coli tumor suppressor;
                     deleted in polyposis 2.5; protein phosphatase 1, regulatory
                     subunit 46; adenomatous polyposis coli (APC); epididymis
                     secretory sperm binding protein; APC, WNT signaling pathway
                     regulator"
                     /codon_start=1
                     /product="adenomatous polyposis coli protein isoform b"
                     /protein_id="NP_000029.2"
                     /db_xref="CCDS:CCDS4107.1"
                     /db_xref="GeneID:324"
                     /db_xref="HGNC:HGNC:583"
                     /db_xref="MIM:611731"
                     /translation="MAAASYDQLLKQVEALKMENSNLRQELEDNSNHLTKLETEASNMK
                     EVLKQLQGSIEDEAMASSGQIDLLERLKELNLDSSNFPGVKLRSKMSLRSYGSREGSVS
                     SRSGECSPVPMGSFPRRGFVNGSRESTGYLEELEKERSLLLADLDKEEKEKDWYYAQLQ
                     NLTKRIDSLPLTENFSLQTDMTRRQLEYEARQIRVAMEEQLGTCQDMEKRAQRRIARIQ
                     QIEKDILRIRQLLQSQATEAERSSQNKHETGSHDAERQNEGQGVGEINMATSGNGQGST
                     TRMDHETASVLSSSSTHSAPRRLTSHLGTKVEMVYSLLSMLGTHDKDDMSRTLLAMSSS
                     QDSCISMRQSGCLPLLIQLLHGNDKDSVLLGNSRGSKEARARASAALHNIIHSQPDDKR
                     GRREIRVLHLLEQIRAYCETCWEWQEAHEPGMDQDKNPMPAPVEHQICPAVCVLMKLSF
                     DEEHRHAMNELGGLQAIAELLQVDCEMYGLTNDHYSITLRRYAGMALTNLTFGDVANKA
                     TLCSMKGCMRALVAQLKSESEDLQQVIASVLRNLSWRADVNSKKTLREVGSVKALMECA
                     LEVKKESTLKSVLSALWNLSAHCTENKADICAVDGALAFLVGTLTYRSQTNTLAIIESG
                     GGILRNVSSLIATNEDHRQILRENNCLQTLLQHLKSHSLTIVSNACGTLWNLSARNPKD
                     QEALWDMGAVSMLKNLIHSKHKMIAMGSAAALRNLMANRPAKYKDANIMSPGSSLPSLH
                     VRKQKALEAELDAQHLSETFDNIDNLSPKASHRSKQRHKQSLYGDYVFDTNRHDDNRSD
                     NFNTGNMTVLSPYLNTTVLPSSSSSRGSLDSSRSEKDRSLERERGIGLGNYHPATENPG
                     TSSKRGLQISTTAAQIAKVMEEVSAIHTSQEDRSSGSTTELHCVTDERNALRRSSAAHT
                     HSNTYNFTKSENSNRTCSMPYAKLEYKRSSNDSLNSVSSSDGYGKRGQMKPSIESYSED
                     DESKFCSYGQYPADLAHKIHSANHMDDNDGELDTPINYSLKYSDEQLNSGRQSPSQNER
                     WARPKHIIEDEIKQSEQRQSRNQSTTYPVYTESTDDKHLKFQPHFGQQECVSPYRSRGA
                     NGSETNRVGSNHGINQNVSQSLCQEDDYEDDKPTNYSERYSEEEQHEEEERPTNYSIKY
                     NEEKRHVDQPIDYSLKYATDIPSSQKQSFSFSKSSSGQSSKTEHMSSSSENTSTPSSNA
                     KRQNQLHPSSAQSRSGQPQKAATCKVSSINQETIQTYCVEDTPICFSRCSSLSSLSSAE
                     DEIGCNQTTQEADSANTLQIAEIKEKIGTRSAEDPVSEVPAVSQHPRTKSSRLQGSSLS
                     SESARHKAVEFSSGAKSPSKSGAQTPKSPPEHYVQETPLMFSRCTSVSSLDSFESRSIA
                     SSVQSEPCSGMVSGIISPSDLPDSPGQTMPPSRSKTPPPPPQTAQTKREVPKNKAPTAE
                     KRESGPKQAAVNAAVQRVQVLPDADTLLHFATESTPDGFSCSSSLSALSLDEPFIQKDV
                     ELRIMPPVQENDNGNETESEQPKESNENQEKEAEKTIDSEKDLLDDSDDDDIEILEECI
                     ISAMPTKSSRKAKKPAQTASKLPPPVARKPSQLPVYKLLPSQNRLQPQKHVSFTPGDDM
                     PRVYCVEGTPINFSTATSLSDLTIESPPNELAAGEGVRGGAQSGEFEKRDTIPTEGRST
                     DEAQGGKTSSVTIPELDDNKAEEGDILAECINSAMPKGKSHKPFRVKKIMDQVQQASAS
                     SSAPNKNQLDGKKKKPTSPVKPIPQNTEYRTRVRKNADSKNNLNAERVFSDNKDSKKQN
                     LKNNSKVFNDKLPNNEDRVRGSFAFDSPHHYTPIEGTPYCFSRNDSLSSLDFDDDDVDL
                     SREKAELRKAKENKESEAKVTSHTELTSNQQSANKTQAIAKQPINRGQPKPILQKQSTF
                     PQSSKDIPDRGAATDEKLQNFAIENTPVCFSHNSSLSSLSDIDQENNNKENEPIKETEP
                     PDSQGEPSKPQASGYAPKSFHVEDTPVCFSRNSSLSSLSIDSEDDLLQECISSAMPKKK
                     KPSRLKGDNEKHSPRNMGGILGEDLTLDLKDIQRPDSEHGLSPDSENFDWKAIQEGANS
                     IVSSLHQAAAAACLSRQASSDSDSILSLKSGISLGSPFHLTPDQEEKPFTSNKGPRILK
                     PGEKSTLETKKIESESKGIKGGKKVYKSLITGKVRSNSEISGQMKQPLQANMPSISRGR
                     TMIHIPGVRNSSSSTSPVSKKGPPLKTPASKSPSEGQTATTSPRGAKPSVKSELSPVAR
                     QTSQIGGSSKAPSRSGSRDSTPSRPAQQPLSRPIQSPGRNSISPGRNGISPPNKLSQLP
                     RTSSPSTASTKSSGSGKMSYTSPGRQMSQQNLTKQTGLSKNASSIPRSESASKGLNQMN
                     NGNGANKKVELSRMSSTKSSGSESDRSERPVLVRQSTFIKEAPSPTLRRKLEESASFES
                     LSPSSRPASPTRSQAQTPVLSPSLPDMSLSTHSSVQAGGWRKLPPNLSPTIEYNDGRPA
                     KRHDIARSHSESPSRLPINRSGTWKREHSKHSSSLPRVSTWRRTGSSSSILSASSESSE
                     KAKSEDEKHVNSISGTKQSKENQVSAKGTWRKIKENEFSPTNSTSQTVSSGATNGAESK
                     TLIYQMAPAVSKTEDVWVRIEDCPINNPRSGRSPTGNTPPVIDSVSEKANPNIKDSKDN
                     QAKQNVGNGSVPMRTVGLENRLNSFIQVDAPDQKGTEIKPGQNNPVPVSETNESSIVER
                     TPFSSSSSSKHSSPSGTVAARVTPFNYNPSPRKSSADSTSARPSQIPTPVNNNTKKRDS
                     KTDSTESSGTQSPKRHSGSYLVTSV"
     misc_feature    63..65
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); acetylation site"
     misc_feature    378..380
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61315; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    390..392
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61315; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    774..974
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1416..1544
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: ARM 1"
     misc_feature    1572..1700
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: ARM 2"
     misc_feature    1701..1832
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: ARM 3"
     misc_feature    1833..1973
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: ARM 4"
     misc_feature    1974..2108
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: ARM 5"
     misc_feature    2109..2234
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: ARM 6"
     misc_feature    2235..2360
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: ARM 7"
     misc_feature    2289..2291
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    2301..2303
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    2397..2399
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P25054.2);
                     phosphorylation site"
     misc_feature    2541..2693
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2781..2783
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    2826..2888
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2931..3020
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2937..4070
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Responsible for down-regulation through a process
                     mediated by direct ubiquitination"
     misc_feature    3018..3020
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70478; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    3117..3566
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Interaction with catenins.
                     /evidence=ECO:0000269|PubMed:8259519"
     misc_feature    3171..3173
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61315; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    3183..3185
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    3354..3566
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3627..3791
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3990..4187
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4137..4139
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    4170..4172
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    4212..4214
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    4233..4235
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61315; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    4242..4244
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61315; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    4266..4484
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4371..4373
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    4635..4766
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4758..4760
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70478; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    4806..4892
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5049..5210
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5244..5567
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5379..5381
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    5640..5642
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P25054.2);
                     phosphorylation site"
     misc_feature    5646..5648
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    5649..5651
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    5655..5738
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Highly charged"
     misc_feature    5700..5909
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5952..6092
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5970..5972
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61315; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    5976..5978
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61315; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    6162..6236
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Interaction with AXIN1.
                     /evidence=ECO:0000269|PubMed:10811618"
     misc_feature    6186..6275
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    6321..6323
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70478; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    6336..6338
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70478; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    6432..6434
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61315; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    6444..6446
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70478; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    6447..6449
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70478; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    6453..6455
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70478; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    6498..7964
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    6510..6512
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    6558..8081
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Basic region.
                     /evidence=ECO:0000269|PubMed:17293347"
     misc_feature    6837..6839
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    6867..6869
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    6906..6908
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    7476..7478
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    7482..8588
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Interaction with DLG1.
                     /evidence=ECO:0000269|PubMed:8638125"
     misc_feature    7662..7664
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    7764..7766
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    8058..8201
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    8070..8072
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    8079..8588
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Interaction with MAPRE1.
                     /evidence=ECO:0000269|PubMed:17293347"
     misc_feature    8079..8081
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    8094..8096
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    8187..8189
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70478; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    8229..8231
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    8244..8588
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    8424..8426
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P25054.2); phosphorylation site"
     misc_feature    8466..8477
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: Microtubule tip localization signal"
     misc_feature    8580..8588
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="propagated from UniProtKB/Swiss-Prot (P25054.2);
                     Region: PDZ-binding"
     regulatory      9422..9427
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="hexamer: AATAAA"
     polyA_site      9444
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="major polyA site"
     regulatory      9584..9589
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="hexamer: AATAAA"
     polyA_site      9618
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
     regulatory      10502..10507
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="hexamer: AATAAA"
     polyA_site      10529
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
     regulatory      10682..10687
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
                     /note="hexamer: CATAAA"
     polyA_site      10704
                     /gene="APC"
                     /gene_synonym="BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46"
ORIGIN
        1 actggagaca gaatggaggt gctgccggac tcggaaatgg ggtccaaggg tagccaagga
       61 tggctgcagc ttcatatgat cagttgttaa agcaagttga ggcactgaag atggagaact
      121 caaatcttcg acaagagcta gaagataatt ccaatcatct tacaaaactg gaaactgagg
      181 catctaatat gaaggaagta cttaaacaac tacaaggaag tattgaagat gaagctatgg
      241 cttcttctgg acagattgat ttattagagc gtcttaaaga gcttaactta gatagcagta
      301 atttccctgg agtaaaactg cggtcaaaaa tgtccctccg ttcttatgga agccgggaag
      361 gatctgtatc aagccgttct ggagagtgca gtcctgttcc tatgggttca tttccaagaa
      421 gagggtttgt aaatggaagc agagaaagta ctggatattt agaagaactt gagaaagaga
      481 ggtcattgct tcttgctgat cttgacaaag aagaaaagga aaaagactgg tattacgctc
      541 aacttcagaa tctcactaaa agaatagata gtcttccttt aactgaaaat ttttccttac
      601 aaacagatat gaccagaagg caattggaat atgaagcaag gcaaatcaga gttgcgatgg
      661 aagaacaact aggtacctgc caggatatgg aaaaacgagc acagcgaaga atagccagaa
      721 ttcagcaaat cgaaaaggac atacttcgta tacgacagct tttacagtcc caagcaacag
      781 aagcagagag gtcatctcag aacaagcatg aaaccggctc acatgatgct gagcggcaga
      841 atgaaggtca aggagtggga gaaatcaaca tggcaacttc tggtaatggt cagggttcaa
      901 ctacacgaat ggaccatgaa acagccagtg ttttgagttc tagtagcaca cactctgcac
      961 ctcgaaggct gacaagtcat ctgggaacca aggtggaaat ggtgtattca ttgttgtcaa
     1021 tgcttggtac tcatgataag gatgatatgt cgcgaacttt gctagctatg tctagctccc
     1081 aagacagctg tatatccatg cgacagtctg gatgtcttcc tctcctcatc cagcttttac
     1141 atggcaatga caaagactct gtattgttgg gaaattcccg gggcagtaaa gaggctcggg
     1201 ccagggccag tgcagcactc cacaacatca ttcactcaca gcctgatgac aagagaggca
     1261 ggcgtgaaat ccgagtcctt catcttttgg aacagatacg cgcttactgt gaaacctgtt
     1321 gggagtggca ggaagctcat gaaccaggca tggaccagga caaaaatcca atgccagctc
     1381 ctgttgaaca tcagatctgt cctgctgtgt gtgttctaat gaaactttca tttgatgaag
     1441 agcatagaca tgcaatgaat gaactagggg gactacaggc cattgcagaa ttattgcaag
     1501 tggactgtga aatgtatggg cttactaatg accactacag tattacacta agacgatatg
     1561 ctggaatggc tttgacaaac ttgacttttg gagatgtagc caacaaggct acgctatgct
     1621 ctatgaaagg ctgcatgaga gcacttgtgg cccaactaaa atctgaaagt gaagacttac
     1681 agcaggttat tgcgagtgtt ttgaggaatt tgtcttggcg agcagatgta aatagtaaaa
     1741 agacgttgcg agaagttgga agtgtgaaag cattgatgga atgtgcttta gaagttaaaa
     1801 aggaatcaac cctcaaaagc gtattgagtg ccttatggaa tttgtcagca cattgcactg
     1861 agaataaagc tgatatatgt gctgtagatg gtgcacttgc atttttggtt ggcactctta
     1921 cttaccggag ccagacaaac actttagcca ttattgaaag tggaggtggg atattacgga
     1981 atgtgtccag cttgatagct acaaatgagg accacaggca aatcctaaga gagaacaact
     2041 gtctacaaac tttattacaa cacttaaaat ctcatagttt gacaatagtc agtaatgcat
     2101 gtggaacttt gtggaatctc tcagcaagaa atcctaaaga ccaggaagca ttatgggaca
     2161 tgggggcagt tagcatgctc aagaacctca ttcattcaaa gcacaaaatg attgctatgg
     2221 gaagtgctgc agctttaagg aatctcatgg caaataggcc tgcgaagtac aaggatgcca
     2281 atattatgtc tcctggctca agcttgccat ctcttcatgt taggaaacaa aaagccctag
     2341 aagcagaatt agatgctcag cacttatcag aaacttttga caatatagac aatttaagtc
     2401 ccaaggcatc tcatcgtagt aagcagagac acaagcaaag tctctatggt gattatgttt
     2461 ttgacaccaa tcgacatgat gataataggt cagacaattt taatactggc aacatgactg
     2521 tcctttcacc atatttgaat actacagtgt tacccagctc ctcttcatca agaggaagct
     2581 tagatagttc tcgttctgaa aaagatagaa gtttggagag agaacgcgga attggtctag
     2641 gcaactacca tccagcaaca gaaaatccag gaacttcttc aaagcgaggt ttgcagatct
     2701 ccaccactgc agcccagatt gccaaagtca tggaagaagt gtcagccatt catacctctc
     2761 aggaagacag aagttctggg tctaccactg aattacattg tgtgacagat gagagaaatg
     2821 cacttagaag aagctctgct gcccatacac attcaaacac ttacaatttc actaagtcgg
     2881 aaaattcaaa taggacatgt tctatgcctt atgccaaatt agaatacaag agatcttcaa
     2941 atgatagttt aaatagtgtc agtagtagtg atggttatgg taaaagaggt caaatgaaac
     3001 cctcgattga atcctattct gaagatgatg aaagtaagtt ttgcagttat ggtcaatacc
     3061 cagccgacct agcccataaa atacatagtg caaatcatat ggatgataat gatggagaac
     3121 tagatacacc aataaattat agtcttaaat attcagatga gcagttgaac tctggaaggc
     3181 aaagtccttc acagaatgaa agatgggcaa gacccaaaca cataatagaa gatgaaataa
     3241 aacaaagtga gcaaagacaa tcaaggaatc aaagtacaac ttatcctgtt tatactgaga
     3301 gcactgatga taaacacctc aagttccaac cacattttgg acagcaggaa tgtgtttctc
     3361 catacaggtc acggggagcc aatggttcag aaacaaatcg agtgggttct aatcatggaa
     3421 ttaatcaaaa tgtaagccag tctttgtgtc aagaagatga ctatgaagat gataagccta
     3481 ccaattatag tgaacgttac tctgaagaag aacagcatga agaagaagag agaccaacaa
     3541 attatagcat aaaatataat gaagagaaac gtcatgtgga tcagcctatt gattatagtt
     3601 taaaatatgc cacagatatt ccttcatcac agaaacagtc attttcattc tcaaagagtt
     3661 catctggaca aagcagtaaa accgaacata tgtcttcaag cagtgagaat acgtccacac
     3721 cttcatctaa tgccaagagg cagaatcagc tccatccaag ttctgcacag agtagaagtg
     3781 gtcagcctca aaaggctgcc acttgcaaag tttcttctat taaccaagaa acaatacaga
     3841 cttattgtgt agaagatact ccaatatgtt tttcaagatg tagttcatta tcatctttgt
     3901 catcagctga agatgaaata ggatgtaatc agacgacaca ggaagcagat tctgctaata
     3961 ccctgcaaat agcagaaata aaagaaaaga ttggaactag gtcagctgaa gatcctgtga
     4021 gcgaagttcc agcagtgtca cagcacccta gaaccaaatc cagcagactg cagggttcta
     4081 gtttatcttc agaatcagcc aggcacaaag ctgttgaatt ttcttcagga gcgaaatctc
     4141 cctccaaaag tggtgctcag acacccaaaa gtccacctga acactatgtt caggagaccc
     4201 cactcatgtt tagcagatgt acttctgtca gttcacttga tagttttgag agtcgttcga
     4261 ttgccagctc cgttcagagt gaaccatgca gtggaatggt aagtggcatt ataagcccca
     4321 gtgatcttcc agatagccct ggacaaacca tgccaccaag cagaagtaaa acacctccac
     4381 cacctcctca aacagctcaa accaagcgag aagtacctaa aaataaagca cctactgctg
     4441 aaaagagaga gagtggacct aagcaagctg cagtaaatgc tgcagttcag agggtccagg
     4501 ttcttccaga tgctgatact ttattacatt ttgccacgga aagtactcca gatggatttt
     4561 cttgttcatc cagcctgagt gctctgagcc tcgatgagcc atttatacag aaagatgtgg
     4621 aattaagaat aatgcctcca gttcaggaaa atgacaatgg gaatgaaaca gaatcagagc
     4681 agcctaaaga atcaaatgaa aaccaagaga aagaggcaga aaaaactatt gattctgaaa
     4741 aggacctatt agatgattca gatgatgatg atattgaaat actagaagaa tgtattattt
     4801 ctgccatgcc aacaaagtca tcacgtaaag caaaaaagcc agcccagact gcttcaaaat
     4861 tacctccacc tgtggcaagg aaaccaagtc agctgcctgt gtacaaactt ctaccatcac
     4921 aaaacaggtt gcaaccccaa aagcatgtta gttttacacc gggggatgat atgccacggg
     4981 tgtattgtgt tgaagggaca cctataaact tttccacagc tacatctcta agtgatctaa
     5041 caatcgaatc ccctccaaat gagttagctg ctggagaagg agttagagga ggggcacagt
     5101 caggtgaatt tgaaaaacga gataccattc ctacagaagg cagaagtaca gatgaggctc
     5161 aaggaggaaa aacctcatct gtaaccatac ctgaattgga tgacaataaa gcagaggaag
     5221 gtgatattct tgcagaatgc attaattctg ctatgcccaa agggaaaagt cacaagcctt
     5281 tccgtgtgaa aaagataatg gaccaggtcc agcaagcatc tgcgtcttct tctgcaccca
     5341 acaaaaatca gttagatggt aagaaaaaga aaccaacttc accagtaaaa cctataccac
     5401 aaaatactga atataggaca cgtgtaagaa aaaatgcaga ctcaaaaaat aatttaaatg
     5461 ctgagagagt tttctcagac aacaaagatt caaagaaaca gaatttgaaa aataattcca
     5521 aggtcttcaa tgataagctc ccaaataatg aagatagagt cagaggaagt tttgcttttg
     5581 attcacctca tcattacacg cctattgaag gaactcctta ctgtttttca cgaaatgatt
     5641 ctttgagttc tctagatttt gatgatgatg atgttgacct ttccagggaa aaggctgaat
     5701 taagaaaggc aaaagaaaat aaggaatcag aggctaaagt taccagccac acagaactaa
     5761 cctccaacca acaatcagct aataagacac aagctattgc aaagcagcca ataaatcgag
     5821 gtcagcctaa acccatactt cagaaacaat ccacttttcc ccagtcatcc aaagacatac
     5881 cagacagagg ggcagcaact gatgaaaagt tacagaattt tgctattgaa aatactccgg
     5941 tttgcttttc tcataattcc tctctgagtt ctctcagtga cattgaccaa gaaaacaaca
     6001 ataaagaaaa tgaacctatc aaagagactg agccccctga ctcacaggga gaaccaagta
     6061 aacctcaagc atcaggctat gctcctaaat catttcatgt tgaagatacc ccagtttgtt
     6121 tctcaagaaa cagttctctc agttctctta gtattgactc tgaagatgac ctgttgcagg
     6181 aatgtataag ctccgcaatg ccaaaaaaga aaaagccttc aagactcaag ggtgataatg
     6241 aaaaacatag tcccagaaat atgggtggca tattaggtga agatctgaca cttgatttga
     6301 aagatataca gagaccagat tcagaacatg gtctatcccc tgattcagaa aattttgatt
     6361 ggaaagctat tcaggaaggt gcaaattcca tagtaagtag tttacatcaa gctgctgctg
     6421 ctgcatgttt atctagacaa gcttcgtctg attcagattc catcctttcc ctgaaatcag
     6481 gaatctctct gggatcacca tttcatctta cacctgatca agaagaaaaa ccctttacaa
     6541 gtaataaagg cccacgaatt ctaaaaccag gggagaaaag tacattggaa actaaaaaga
     6601 tagaatctga aagtaaagga atcaaaggag gaaaaaaagt ttataaaagt ttgattactg
     6661 gaaaagttcg atctaattca gaaatttcag gccaaatgaa acagcccctt caagcaaaca
     6721 tgccttcaat ctctcgaggc aggacaatga ttcatattcc aggagttcga aatagctcct
     6781 caagtacaag tcctgtttct aaaaaaggcc caccccttaa gactccagcc tccaaaagcc
     6841 ctagtgaagg tcaaacagcc accacttctc ctagaggagc caagccatct gtgaaatcag
     6901 aattaagccc tgttgccagg cagacatccc aaataggtgg gtcaagtaaa gcaccttcta
     6961 gatcaggatc tagagattcg accccttcaa gacctgccca gcaaccatta agtagaccta
     7021 tacagtctcc tggccgaaac tcaatttccc ctggtagaaa tggaataagt cctcctaaca
     7081 aattatctca acttccaagg acatcatccc ctagtactgc ttcaactaag tcctcaggtt
     7141 ctggaaaaat gtcatataca tctccaggta gacagatgag ccaacagaac cttaccaaac
     7201 aaacaggttt atccaagaat gccagtagta ttccaagaag tgagtctgcc tccaaaggac
     7261 taaatcagat gaataatggt aatggagcca ataaaaaggt agaactttct agaatgtctt
     7321 caactaaatc aagtggaagt gaatctgata gatcagaaag acctgtatta gtacgccagt
     7381 caactttcat caaagaagct ccaagcccaa ccttaagaag aaaattggag gaatctgctt
     7441 catttgaatc tctttctcca tcatctagac cagcttctcc cactaggtcc caggcacaaa
     7501 ctccagtttt aagtccttcc cttcctgata tgtctctatc cacacattcg tctgttcagg
     7561 ctggtggatg gcgaaaactc ccacctaatc tcagtcccac tatagagtat aatgatggaa
     7621 gaccagcaaa gcgccatgat attgcacggt ctcattctga aagtccttct agacttccaa
     7681 tcaataggtc aggaacctgg aaacgtgagc acagcaaaca ttcatcatcc cttcctcgag
     7741 taagcacttg gagaagaact ggaagttcat cttcaattct ttctgcttca tcagaatcca
     7801 gtgaaaaagc aaaaagtgag gatgaaaaac atgtgaactc tatttcagga accaaacaaa
     7861 gtaaagaaaa ccaagtatcc gcaaaaggaa catggagaaa aataaaagaa aatgaatttt
     7921 ctcccacaaa tagtacttct cagaccgttt cctcaggtgc tacaaatggt gctgaatcaa
     7981 agactctaat ttatcaaatg gcacctgctg tttctaaaac agaggatgtt tgggtgagaa
     8041 ttgaggactg tcccattaac aatcctagat ctggaagatc tcccacaggt aatactcccc
     8101 cggtgattga cagtgtttca gaaaaggcaa atccaaacat taaagattca aaagataatc
     8161 aggcaaaaca aaatgtgggt aatggcagtg ttcccatgcg taccgtgggt ttggaaaatc
     8221 gcctgaactc ctttattcag gtggatgccc ctgaccaaaa aggaactgag ataaaaccag
     8281 gacaaaataa tcctgtccct gtatcagaga ctaatgaaag ttctatagtg gaacgtaccc
     8341 cattcagttc tagcagctca agcaaacaca gttcacctag tgggactgtt gctgccagag
     8401 tgactccttt taattacaac ccaagcccta ggaaaagcag cgcagatagc acttcagctc
     8461 ggccatctca gatcccaact ccagtgaata acaacacaaa gaagcgagat tccaaaactg
     8521 acagcacaga atccagtgga acccaaagtc ctaagcgcca ttctgggtct taccttgtga
     8581 catctgttta aaagagagga agaatgaaac taagaaaatt ctatgttaat tacaactgct
     8641 atatagacat tttgtttcaa atgaaacttt aaaagactga aaaattttgt aaataggttt
     8701 gattcttgtt agagggtttt tgttctggaa gccatatttg atagtatact ttgtcttcac
     8761 tggtcttatt ttgggaggca ctcttgatgg ttaggaaaaa aatagtaaag ccaagtatgt
     8821 ttgtacagta tgttttacat gtatttaaag tagcatccca tcccaacttc ctttaattat
     8881 tgcttgtctt aaaataatga acactacaga tagaaaatat gatatattgc tgttatcaat
     8941 catttctaga ttataaactg actaaactta catcagggaa aaattggtat ttatgcaaaa
     9001 aaaaatgttt ttgtccttgt gagtccatct aacatcataa ttaatcatgt ggctgtgaaa
     9061 ttcacagtaa tatggttccc gatgaacaag tttacccagc ctgctttgct ttactgcatg
     9121 aatgaaactg atggttcaat ttcagaagta atgattaaca gttatgtggt cacatgatgt
     9181 gcatagagat agctacagtg taataattta cactattttg tgctccaaac aaaacaaaaa
     9241 tctgtgtaac tgtaaaacat tgaatgaaac tattttacct gaactagatt ttatctgaaa
     9301 gtaggtagaa tttttgctat gctgtaattt gttgtatatt ctggtatttg aggtgagatg
     9361 gctgctcttt tattaatgag acatgaattg tgtctcaaca gaaactaaat gaacatttca
     9421 gaataaatta ttgctgtatg taaactgtta ctgaaattgg tatttgtttg aagggtcttg
     9481 tttcacattt gtattaataa ttgtttaaaa tgcctctttt aaaagcttat ataaattttt
     9541 ttcttcagct tctatgcatt aagagtaaaa ttcctcttac tgtaataaaa acaattgaag
     9601 aagactgttg ccacttaacc attccatgcg ttggcactta tctattcctg aaatttcttt
     9661 tatgtgatta gctcatcttg atttttaata tttttccact taaacttttt tttcttactc
     9721 cactggagct cagtaaaagt aaattcatgt aatagcaatg caagcagcct agcacagact
     9781 aagcattgag cataataggc ccacataatt tcctctttct taatattata gaattctgta
     9841 cttgaaattg attcttagac attgcagtct cttcgaggct ttacagtgta aactgtcttg
     9901 ccccttcatc ttcttgttgc aactgggtct gacatgaaca ctttttatca ccctgtatgt
     9961 tagggcaaga tctcagcagt gaagtataat cagcactttg ccatgctcag aaaattcaaa
    10021 tcacatggaa ctttagaggt agatttaata cgattaagat attcagaagt atattttaga
    10081 atccctgcct gttaaggaaa ctttatttgt ggtaggtaca gttctggggt acatgttaag
    10141 tgtcccctta tacagtggag ggaagtcttc cttcctgaag gaaaataaac tgacacttat
    10201 taactaagat aatttactta atatatcttc cctgatttgt tttaaaagat cagagggtga
    10261 ctgatgatac atgcatacat atttgttgaa taaatgaaaa tttattttta gtgataagat
    10321 tcatacactc tgtatttggg gagggaaaac ctttttaagc atggtggggc actcagatag
    10381 gagtgaatac acctacctgg tgccttgaaa atcacatcaa gtagttaatt atctacccct
    10441 tacctgtgtt tataacttcc aggtaatgag aatgattttt tttaaagcta aaatgccagt
    10501 aaataaaagt gctatgactt gagctaagat atttgactcc aatgcctgta ctgtgtctac
    10561 tgcaccactt tgtaaacact tcaatttact atctttgaaa tgattgacct ttaaattttt
    10621 gccaaatgtt atctgaaatt gtctatgaat accatctact tctgttgttt tcccaggctt
    10681 ccataaacaa tggagataca tgca
//
LOCUS       NM_000039                899 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens apolipoprotein A1 (APOA1), transcript variant 1, mRNA.
ACCESSION   NM_000039
VERSION     NM_000039.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 899)
  AUTHORS   Fraga LN, Milenkovic D, Coutinho CP, Rozenbaum AC, Lajolo FM and
            Hassimotto NMA.
  TITLE     Interaction between APOE, APOA1, and LPL Gene Polymorphisms and
            Variability in Changes in Lipid and Blood Pressure following Orange
            Juice Intake: A Pilot Study
  JOURNAL   Mol Nutr Food Res 67 (13), e2200847 (2023)
   PUBMED   37128695
  REMARK    GeneRIF: Interaction between APOE, APOA1, and LPL Gene Polymorphisms
            and Variability in Changes in Lipid and Blood Pressure following
            Orange Juice Intake: A Pilot Study.
REFERENCE   2  (bases 1 to 899)
  AUTHORS   Korjian S, Kazmi SHA, Chi G, Kalayci A, Lee JJ, Talib U, Wright SD,
            Duffy D, Kingwell BA, Mehran R, Ridker PM and Gibson CM.
  TITLE     Biological basis and proposed mechanism of action of CSL112
            (apolipoprotein A-I [human]) for prevention of major adverse
            cardiovascular events in patients with myocardial infarction
  JOURNAL   Eur Heart J Cardiovasc Pharmacother 9 (4), 387-398 (2023)
   PUBMED   36787889
  REMARK    GeneRIF: Biological basis and proposed mechanism of action of CSL112
            (apolipoprotein A-I [human]) for prevention of major adverse
            cardiovascular events in patients with myocardial infarction. Review
            article
REFERENCE   3  (bases 1 to 899)
  AUTHORS   Sun X and Wu X.
  TITLE     Association of apolipoprotein A1 with osteoporosis: a
            cross-sectional study
  JOURNAL   BMC Musculoskelet Disord 24 (1), 157 (2023)
   PUBMED   36864426
  REMARK    GeneRIF: Association of apolipoprotein A1 with osteoporosis: a
            cross-sectional study. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 899)
  AUTHORS   Wang YJ, Mu HN, Yang RY, Zhang WD, Wang XY, Wang SM, Ji FS, Dong J
            and Yu X.
  TITLE     [Value of glycosylated hemoglobin A1c and apolipoprotein A-1 ratio
            on predicting outcome of patients with acute coronary syndrome]
  JOURNAL   Zhonghua Xin Xue Guan Bing Za Zhi 51 (1), 38-44 (2023)
   PUBMED   36655240
  REMARK    GeneRIF: [Value of glycosylated hemoglobin A1c and apolipoprotein
            A-1 ratio on predicting outcome of patients with acute coronary
            syndrome].
REFERENCE   5  (bases 1 to 899)
  AUTHORS   Kingwell BA, Chapman MJ, Kontush A and Miller NE.
  TITLE     HDL-targeted therapies: progress, failures and future
  JOURNAL   Nat Rev Drug Discov 13 (6), 445-464 (2014)
   PUBMED   24854407
  REMARK    Review article
REFERENCE   6  (bases 1 to 899)
  AUTHORS   Breslow,J.L., Ross,D., McPherson,J., Williams,H., Kurnit,D.,
            Nussbaum,A.L., Karathanasis,S.K. and Zannis,V.I.
  TITLE     Isolation and characterization of cDNA clones for human
            apolipoprotein A-I
  JOURNAL   Proc Natl Acad Sci U S A 79 (22), 6861-6865 (1982)
   PUBMED   6294659
REFERENCE   7  (bases 1 to 899)
  AUTHORS   Weisgraber,K.H. and Mahley,R.W.
  TITLE     Apoprotein (E--A-II) complex of human plasma lipoproteins. I.
            Characterization of this mixed disulfide and its identification in a
            high density lipoprotein subfraction
  JOURNAL   J Biol Chem 253 (17), 6281-6288 (1978)
   PUBMED   210174
REFERENCE   8  (bases 1 to 899)
  AUTHORS   Brewer,H.B. Jr., Fairwell,T., LaRue,A., Ronan,R., Houser,A. and
            Bronzert,T.J.
  TITLE     The amino acid sequence of human APOA-I, an apolipoprotein isolated
            from high density lipoproteins
  JOURNAL   Biochem Biophys Res Commun 80 (3), 623-630 (1978)
   PUBMED   204308
REFERENCE   9  (bases 1 to 899)
  AUTHORS   Ritter,M.C. and Scanus,A.M.
  TITLE     Role of apolipoprotein A-I in the structure of human serum high
            density lipoproteins. Reconstitution studies
  JOURNAL   J Biol Chem 252 (4), 1208-1216 (1977)
   PUBMED   190223
REFERENCE   10  (bases 1 to 899)
  AUTHORS   Baker,H.N., Gotto,A.M. Jr. and Jackson,R.L.
  TITLE     The primary structure of human plasma high density apolipoprotein
            glutamine I (ApoA-I). II. The amino acid sequence and alignment of
            cyanogen bromide fragments IV, III, and I
  JOURNAL   J Biol Chem 250 (7), 2725-2738 (1975)
   PUBMED   164450
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X02162.1, BC005380.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000236850.5/ ENSP00000236850.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X02162.1.
            On Feb 27, 2020 this sequence version replaced NM_000039.2.
            Summary: This gene encodes apolipoprotein A-I, which is the major
            protein component of high density lipoprotein (HDL) in plasma. The
            encoded preproprotein is proteolytically processed to generate the
            mature protein, which promotes cholesterol efflux from tissues to
            the liver for excretion, and is a cofactor for lecithin
            cholesterolacyltransferase (LCAT), an enzyme responsible for the
            formation of most plasma cholesteryl esters. This gene is closely
            linked with two other apolipoprotein genes on chromosome 11.
            Defects in this gene are associated with HDL deficiencies,
            including Tangier disease, and with systemic non-neuropathic
            amyloidosis. Alternative splicing results in multiple transcript
            variants, at least one of which encodes a preproprotein. [provided
            by RefSeq, Dec 2015].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform. Variants 1-3 encode the
            same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..899
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..899
                     /gene="APOA1"
                     /gene_synonym="apo(a); HPALP2"
                     /note="apolipoprotein A1"
                     /db_xref="GeneID:335"
                     /db_xref="HGNC:HGNC:600"
                     /db_xref="MIM:107680"
     CDS             39..842
                     /gene="APOA1"
                     /gene_synonym="apo(a); HPALP2"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; apo-AI; epididymis secretory sperm binding
                     protein; apolipoprotein A-I"
                     /codon_start=1
                     /product="apolipoprotein A-I isoform 1 preproprotein"
                     /protein_id="NP_000030.1"
                     /db_xref="CCDS:CCDS8378.1"
                     /db_xref="GeneID:335"
                     /db_xref="HGNC:HGNC:600"
                     /db_xref="MIM:107680"
                     /translation="MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDV
                     LKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTSTFSKLREQLGPVTQEFWDNLEKETE
                     GLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHELQE
                     KLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATE
                     HLSTLSEKAKPALEDLRQGLLPVLESFKVSFLSALEEYTKKLNTQ"
     sig_peptide     39..92
                     /gene="APOA1"
                     /gene_synonym="apo(a); HPALP2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     93..839
                     /gene="APOA1"
                     /gene_synonym="apo(a); HPALP2"
                     /product="Proapolipoprotein A-I. /id=PRO_0000425323"
                     /note="propagated from UniProtKB/Swiss-Prot (P02647.1)"
     mat_peptide     111..839
                     /gene="APOA1"
                     /gene_synonym="apo(a); HPALP2"
                     /product="Apolipoprotein A-I. /id=PRO_0000001939"
                     /note="propagated from UniProtKB/Swiss-Prot (P02647.1)"
     mat_peptide     111..836
                     /gene="APOA1"
                     /gene_synonym="apo(a); HPALP2"
                     /product="Truncated apolipoprotein A-I. /id=PRO_0000001940"
                     /note="propagated from UniProtKB/Swiss-Prot (P02647.1)"
     misc_feature    240..839
                     /gene="APOA1"
                     /gene_synonym="apo(a); HPALP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P02647.1);
                     Region: 10 X approximate tandem repeats"
     misc_feature    825..827
                     /gene="APOA1"
                     /gene_synonym="apo(a); HPALP2"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:8261628; propagated from
                     UniProtKB/Swiss-Prot (P02647.1); glycosylation site"
     regulatory      877..882
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOA1"
                     /gene_synonym="apo(a); HPALP2"
                     /note="hexamer: AATAAA"
     polyA_site      899
                     /gene="APOA1"
                     /gene_synonym="apo(a); HPALP2"
                     /note="major polyA site"
ORIGIN
        1 agagactgcg agaaggaggt cccccacggc ccttcaggat gaaagctgcg gtgctgacct
       61 tggccgtgct cttcctgacg gggagccagg ctcggcattt ctggcagcaa gatgaacccc
      121 cccagagccc ctgggatcga gtgaaggacc tggccactgt gtacgtggat gtgctcaaag
      181 acagcggcag agactatgtg tcccagtttg aaggctccgc cttgggaaaa cagctaaacc
      241 taaagctcct tgacaactgg gacagcgtga cctccacctt cagcaagctg cgcgaacagc
      301 tcggccctgt gacccaggag ttctgggata acctggaaaa ggagacagag ggcctgaggc
      361 aggagatgag caaggatctg gaggaggtga aggccaaggt gcagccctac ctggacgact
      421 tccagaagaa gtggcaggag gagatggagc tctaccgcca gaaggtggag ccgctgcgcg
      481 cagagctcca agagggcgcg cgccagaagc tgcacgagct gcaagagaag ctgagcccac
      541 tgggcgagga gatgcgcgac cgcgcgcgcg cccatgtgga cgcgctgcgc acgcatctgg
      601 ccccctacag cgacgagctg cgccagcgct tggccgcgcg ccttgaggct ctcaaggaga
      661 acggcggcgc cagactggcc gagtaccacg ccaaggccac cgagcatctg agcacgctca
      721 gcgagaaggc caagcccgcg ctcgaggacc tccgccaagg cctgctgccc gtgctggaga
      781 gcttcaaggt cagcttcctg agcgctctcg aggagtacac taagaagctc aacacccagt
      841 gaggcgcccg ccgccgcccc ccttcccggt gctcagaata aacgtttcca aagtgggaa
//
LOCUS       NM_000040                535 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens apolipoprotein C3 (APOC3), mRNA.
ACCESSION   NM_000040
VERSION     NM_000040.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 535)
  AUTHORS   Singh H, Dhotre K, Shyamveer, Namdev G, Mahajan SD, Parvez MK and
            Al-Dosari MS.
  TITLE     Role of APOC3 3238C/G polymorphism in HIV-associated neurocognitive
            disorder
  JOURNAL   Microb Pathog 179, 106107 (2023)
   PUBMED   37044204
  REMARK    GeneRIF: Role of APOC3 3238C/G polymorphism in HIV-associated
            neurocognitive disorder.
REFERENCE   2  (bases 1 to 535)
  AUTHORS   Taskin E, Bagci H and Turan MK.
  TITLE     Investigation of associations between apolipoprotein A5 and C3 gene
            polymorphisms with plasma triglyceride and lipid levels
  JOURNAL   Rev Assoc Med Bras (1992) 69 (3), 415-420 (2023)
   PUBMED   36921196
  REMARK    GeneRIF: Investigation of associations between apolipoprotein A5 and
            C3 gene polymorphisms with plasma triglyceride and lipid levels.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 535)
  AUTHORS   Giammanco A, Spina R, Cefalu AB and Averna M.
  TITLE     APOC-III: a Gatekeeper in Controlling Triglyceride Metabolism
  JOURNAL   Curr Atheroscler Rep 25 (3), 67-76 (2023)
   PUBMED   36689070
  REMARK    GeneRIF: APOC-III: a Gatekeeper in Controlling Triglyceride
            Metabolism. Review article
REFERENCE   4  (bases 1 to 535)
  AUTHORS   Li J, Sun H, Wang Y, Liu J and Wang G.
  TITLE     Apolipoprotein C3 is negatively associated with estrogen and
            mediates the protective effect of estrogen on hypertriglyceridemia
            in obese adults
  JOURNAL   Lipids Health Dis 22 (1), 29 (2023)
   PUBMED   36855114
  REMARK    GeneRIF: Apolipoprotein C3 is negatively associated with estrogen
            and mediates the protective effect of estrogen on
            hypertriglyceridemia in obese adults. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 535)
  AUTHORS   Pos,Z., Khedr,M., Radvanszky,J., Penesova,A., Hekel,R., Szemes,T.,
            Ranganath,L.R. and Zatkova,A.
  TITLE     APOC3 and ABCA1 variants in unusual combined hypolipidaemia showing
            premature peripheral vascular disease
  JOURNAL   Bratisl Lek Listy 124 (5), 351-355 (2023)
   PUBMED   36876364
  REMARK    GeneRIF: APOC3 and ABCA1 variants in unusual combined hypolipidaemia
            showing premature peripheral vascular disease.
REFERENCE   6  (bases 1 to 535)
  AUTHORS   Norata GD, Tsimikas S, Pirillo A and Catapano AL.
  TITLE     Apolipoprotein C-III: From Pathophysiology to Pharmacology
  JOURNAL   Trends Pharmacol Sci 36 (10), 675-687 (2015)
   PUBMED   26435212
  REMARK    Review article
REFERENCE   7  (bases 1 to 535)
  AUTHORS   Sehayek E and Eisenberg S.
  TITLE     Mechanisms of inhibition by apolipoprotein C of apolipoprotein
            E-dependent cellular metabolism of human triglyceride-rich
            lipoproteins through the low density lipoprotein receptor pathway
  JOURNAL   J Biol Chem 266 (27), 18259-18267 (1991)
   PUBMED   1917954
REFERENCE   8  (bases 1 to 535)
  AUTHORS   von Eckardstein A, Holz H, Sandkamp M, Weng W, Funke H and Assmann
            G.
  TITLE     Apolipoprotein C-III(Lys58----Glu). Identification of an
            apolipoprotein C-III variant in a family with
            hyperalphalipoproteinemia
  JOURNAL   J Clin Invest 87 (5), 1724-1731 (1991)
   PUBMED   2022742
REFERENCE   9  (bases 1 to 535)
  AUTHORS   Karathanasis,S.K., Zannis,V.I. and Breslow,J.L.
  TITLE     Isolation and characterization of cDNA clones corresponding to two
            different human apoC-III alleles
  JOURNAL   J Lipid Res 26 (4), 451-456 (1985)
   PUBMED   2989400
REFERENCE   10  (bases 1 to 535)
  AUTHORS   Kinnunen,P.K. and Ehnolm,C.
  TITLE     Effect of serum and C-apoproteins from very low density lipoproteins
            on human postheparin plasma hepatic lipase
  JOURNAL   FEBS Lett 65 (3), 354-357 (1976)
   PUBMED   182536
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC027977.1, X01388.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000227667.8/ ENSP00000227667.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from H74029.1, X01388.1 and
            AV657170.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000040.2.
            Summary: This gene encodes a protein component of triglyceride
            (TG)-rich lipoproteins (TRLs) including very low density
            lipoproteins (VLDL), high density lipoproteins (HDL) and
            chylomicrons. The encoded protein plays a role in role in the
            metabolism of these TRLs through multiple modes. This protein has
            been shown to promote the secretion of VLDL1, inhibit lipoprotein
            lipase enzyme activity, and delay catabolism of TRL remnants.
            Mutations in this gene are associated with low plasma triglyceride
            levels and reduced risk of ischemic cardiovascular disease, and
            hyperalphalipoproteinemia, which is characterized by elevated
            levels of high density lipoprotein (HDL) and HDL cholesterol in
            human patients. This gene and other related genes comprise an
            apolipoprotein gene cluster on chromosome 11. [provided by RefSeq,
            Sep 2017].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..535
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..535
                     /gene="APOC3"
                     /gene_synonym="Apo-C3; ApoC-3; APOCIII"
                     /note="apolipoprotein C3"
                     /db_xref="GeneID:345"
                     /db_xref="HGNC:HGNC:610"
                     /db_xref="MIM:107720"
     CDS             48..347
                     /gene="APOC3"
                     /gene_synonym="Apo-C3; ApoC-3; APOCIII"
                     /note="apolipoprotein C-III"
                     /codon_start=1
                     /product="apolipoprotein C-III precursor"
                     /protein_id="NP_000031.1"
                     /db_xref="CCDS:CCDS8377.1"
                     /db_xref="GeneID:345"
                     /db_xref="HGNC:HGNC:610"
                     /db_xref="MIM:107720"
                     /translation="MQPRVLLVVALLALLASARASEAEDASLLSFMQGYMKHATKTAKD
                     ALSSVQESQVAQQARGWVTDGFSSLKDYWSTVKDKFSEFWDLDPEVRPTSAVAA"
     sig_peptide     48..107
                     /gene="APOC3"
                     /gene_synonym="Apo-C3; ApoC-3; APOCIII"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     108..344
                     /gene="APOC3"
                     /gene_synonym="Apo-C3; ApoC-3; APOCIII"
                     /product="Apolipoprotein C-III.
                     /evidence=ECO:0000269|PubMed:3949020. /id=PRO_0000002031"
                     /note="propagated from UniProtKB/Swiss-Prot (P02656.1)"
     misc_feature    156..158
                     /gene="APOC3"
                     /gene_synonym="Apo-C3; ApoC-3; APOCIII"
                     /note="May interact with the LDL receptor.
                     /evidence=ECO:0000305|PubMed:18408013; propagated from
                     UniProtKB/Swiss-Prot (P02656.1); other site"
     misc_feature    168..170
                     /gene="APOC3"
                     /gene_synonym="Apo-C3; ApoC-3; APOCIII"
                     /note="May interact with the LDL receptor.
                     /evidence=ECO:0000305|PubMed:18408013; propagated from
                     UniProtKB/Swiss-Prot (P02656.1); other site"
     misc_feature    177..179
                     /gene="APOC3"
                     /gene_synonym="Apo-C3; ApoC-3; APOCIII"
                     /note="May interact with the LDL receptor.
                     /evidence=ECO:0000305|PubMed:18408013; propagated from
                     UniProtKB/Swiss-Prot (P02656.1); other site"
     misc_feature    249..344
                     /gene="APOC3"
                     /gene_synonym="Apo-C3; ApoC-3; APOCIII"
                     /note="propagated from UniProtKB/Swiss-Prot (P02656.1);
                     Region: Lipid-binding"
     misc_feature    327..329
                     /gene="APOC3"
                     /gene_synonym="Apo-C3; ApoC-3; APOCIII"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:19838169,
                     ECO:0000269|PubMed:23527852, ECO:0000269|PubMed:3123586.
                     /id=CAR_000168; propagated from UniProtKB/Swiss-Prot
                     (P02656.1); glycosylation site"
     regulatory      508..513
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOC3"
                     /gene_synonym="Apo-C3; ApoC-3; APOCIII"
                     /note="hexamer: AATAAA"
     polyA_site      535
                     /gene="APOC3"
                     /gene_synonym="Apo-C3; ApoC-3; APOCIII"
                     /note="major polyA site"
ORIGIN
        1 ctgctcagtt catccctaga ggcagctgct ccaggaacag aggtgccatg cagccccggg
       61 tactccttgt tgttgccctc ctggcgctcc tggcctctgc ccgagcttca gaggccgagg
      121 atgcctccct tctcagcttc atgcagggtt acatgaagca cgccaccaag accgccaagg
      181 atgcactgag cagcgtgcag gagtcccagg tggcccagca ggccaggggc tgggtgaccg
      241 atggcttcag ttccctgaaa gactactgga gcaccgttaa ggacaagttc tctgagttct
      301 gggatttgga ccctgaggtc agaccaactt cagccgtggc tgcctgagac ctcaataccc
      361 caagtccacc tgcctatcca tcctgcgagc tccttgggtc ctgcaatctc cagggctgcc
      421 cctgtaggtt gcttaaaagg gacagtattc tcagtgctct cctaccccac ctcatgcctg
      481 gcccccctcc aggcatgctg gcctcccaat aaagctggac aagaagctgc tatga
//
LOCUS       NM_000041               1166 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens apolipoprotein E (APOE), transcript variant 2, mRNA.
ACCESSION   NM_000041
VERSION     NM_000041.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1166)
  AUTHORS   Talyansky S, Le Guen Y, Kasireddy N, Belloy ME and Greicius MD.
  TITLE     APOE-epsilon4 and BIN1 increase risk of Alzheimer's disease
            pathology but not specifically of Lewy body pathology
  JOURNAL   Acta Neuropathol Commun 11 (1), 149 (2023)
   PUBMED   37700353
  REMARK    GeneRIF: APOE-epsilon4 and BIN1 increase risk of Alzheimer's disease
            pathology but not specifically of Lewy body pathology. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1166)
  AUTHORS   Pirraglia E, Glodzik L and Shao Y.
  TITLE     Lower mortality risk in APOE4 carriers with normal cognitive ageing
  JOURNAL   Sci Rep 13 (1), 15089 (2023)
   PUBMED   37699966
  REMARK    GeneRIF: Lower mortality risk in APOE4 carriers with normal
            cognitive ageing. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1166)
  AUTHORS   Zhao T, Zhong T, Zhang M, Xu Y, Zhang M and Chen L.
  TITLE     Alzheimer's Disease: Causal Effect between Obesity and APOE Gene
            Polymorphisms
  JOURNAL   Int J Mol Sci 24 (17), 13531 (2023)
   PUBMED   37686334
  REMARK    GeneRIF: Alzheimer's Disease: Causal Effect between Obesity and APOE
            Gene Polymorphisms. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1166)
  AUTHORS   Abramova O, Zorkina Y, Ushakova V, Gryadunov D, Ikonnikova A,
            Fedoseeva E, Emelyanova M, Ochneva A, Morozova I, Pavlov K,
            Syunyakov T, Andryushchenko A, Savilov V, Kurmishev M, Andreuyk D,
            Shport S, Gurina O, Chekhonin V, Kostyuk G and Morozova A.
  TITLE     Alteration of Blood Immune Biomarkers in MCI Patients with Different
            APOE Genotypes after Cognitive Training: A 1 Year Follow-Up Cohort
            Study
  JOURNAL   Int J Mol Sci 24 (17), 13395 (2023)
   PUBMED   37686198
  REMARK    GeneRIF: Alteration of Blood Immune Biomarkers in MCI Patients with
            Different APOE Genotypes after Cognitive Training: A 1 Year
            Follow-Up Cohort Study. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1166)
  AUTHORS   Greyshock,N., Guyton,J.R., Sebastian,S. and Okorodudu,D.
  TITLE     APOE p.Leu167del-Related Lipid Disorders - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24921113
REFERENCE   6  (bases 1 to 1166)
  AUTHORS   Bird,T.D.
  TITLE     Alzheimer Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301340
REFERENCE   7  (bases 1 to 1166)
  AUTHORS   McLean,J.W., Elshourbagy,N.A., Chang,D.J., Mahley,R.W. and
            Taylor,J.M.
  TITLE     Human apolipoprotein E mRNA. cDNA cloning and nucleotide sequencing
            of a new variant
  JOURNAL   J Biol Chem 259 (10), 6498-6504 (1984)
   PUBMED   6327682
REFERENCE   8  (bases 1 to 1166)
  AUTHORS   Utermann,G., Pruin,N. and Steinmetz,A.
  TITLE     Polymorphism of apolipoprotein E. III. Effect of a single
            polymorphic gene locus on plasma lipid levels in man
  JOURNAL   Clin Genet 15 (1), 63-72 (1979)
   PUBMED   759055
REFERENCE   9  (bases 1 to 1166)
  AUTHORS   Innerarity,T.L., Mahley,R.W., Weisgraber,K.H. and Bersot,T.P.
  TITLE     Apoprotein (E--A-II) complex of human plasma lipoproteins. II.
            Receptor binding activity of a high density lipoprotein subfraction
            modulated by the apo(E--A-II) complex
  JOURNAL   J Biol Chem 253 (17), 6289-6295 (1978)
   PUBMED   210175
REFERENCE   10  (bases 1 to 1166)
  AUTHORS   Weisgraber,K.H. and Mahley,R.W.
  TITLE     Apoprotein (E--A-II) complex of human plasma lipoproteins. I.
            Characterization of this mixed disulfide and its identification in a
            high density lipoprotein subfraction
  JOURNAL   J Biol Chem 253 (17), 6281-6288 (1978)
   PUBMED   210174
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.95821.1, M12529.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000252486.9/ ENSP00000252486.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY056112.1 and BC003557.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000041.3.
            Summary: The protein encoded by this gene is a major apoprotein of
            the chylomicron. It binds to a specific liver and peripheral cell
            receptor, and is essential for the normal catabolism of
            triglyceride-rich lipoprotein constituents. This gene maps to
            chromosome 19 in a cluster with the related apolipoprotein C1 and
            C2 genes. Mutations in this gene result in familial
            dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III),
            in which increased plasma cholesterol and triglycerides are the
            consequence of impaired clearance of chylomicron and VLDL remnants.
            [provided by RefSeq, Jun 2016].
            Transcript Variant: This variant (2) contains an alternate 5'
            terminal exon, and it thus differs in the 5' UTR and initiates
            translation at a downstream in-frame start codon, compared to
            variant 1. The encoded isoform (b) is shorter at the N-terminus,
            compared to isoform a. Variants 2, 3, 4 and 5 all encode isoform b.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1166
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..1166
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="apolipoprotein E"
                     /db_xref="GeneID:348"
                     /db_xref="HGNC:HGNC:613"
                     /db_xref="MIM:107741"
     CDS             70..1023
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="isoform b precursor is encoded by transcript variant
                     2; apolipoprotein E3"
                     /codon_start=1
                     /product="apolipoprotein E isoform b precursor"
                     /protein_id="NP_000032.1"
                     /db_xref="CCDS:CCDS12647.1"
                     /db_xref="GeneID:348"
                     /db_xref="HGNC:HGNC:613"
                     /db_xref="MIM:107741"
                     /translation="MKVLWAALLVTFLAGCQAKVEQAVETEPEPELRQQTEWQSGQRWE
                     LALGRFWDYLRWVQTLSEQVQEELLSSQVTQELRALMDETMKELKAYKSELEEQLTPVA
                     EETRARLSKELQAAQARLGADMEDVCGRLVQYRGEVQAMLGQSTEELRVRLASHLRKLR
                     KRLLRDADDLQKRLAVYQAGAREGAERGLSAIRERLGPLVEQGRVRAATVGSLAGQPLQ
                     ERAQAWGERLRARMEEMGSRTRDRLDEVKEQVAEVRAKLEEQAQQIRLQAEAFQARLKS
                     WFEPLVEDMQRQWAGLVEKVQAAVGTSAAPVPSDNH"
     sig_peptide     70..123
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     124..1020
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /product="Apolipoprotein E. /id=PRO_0000001987"
                     /note="propagated from UniProtKB/Swiss-Prot (P02649.1)"
     misc_feature    145..147
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:23234360; propagated from
                     UniProtKB/Swiss-Prot (P02649.1); glycosylation site"
     misc_feature    175..177
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:23234360; propagated from
                     UniProtKB/Swiss-Prot (P02649.1); glycosylation site"
     misc_feature    307..834
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="propagated from UniProtKB/Swiss-Prot (P02649.1);
                     Region: 8 X 22 AA approximate tandem repeats"
     misc_feature    346..348
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:10452964; propagated from
                     UniProtKB/Swiss-Prot (P02649.1); glycosylation site"
     misc_feature    508..510
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P02649.1); phosphorylation site"
     misc_feature    541..573
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="propagated from UniProtKB/Swiss-Prot (P02649.1);
                     Region: LDL and other lipoprotein receptors binding.
                     /evidence=ECO:0000269|PubMed:20030366,
                     ECO:0000269|PubMed:2063194"
     misc_feature    697..939
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="propagated from UniProtKB/Swiss-Prot (P02649.1);
                     Region: Lipid-binding and lipoprotein association.
                     /evidence=ECO:0000269|PubMed:2280190,
                     ECO:0000269|PubMed:8071364"
     misc_feature    703..705
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:19838169,
                     ECO:0000269|PubMed:2498325; propagated from
                     UniProtKB/Swiss-Prot (P02649.1); glycosylation site"
     misc_feature    865..1020
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="propagated from UniProtKB/Swiss-Prot (P02649.1);
                     Region: Homooligomerization.
                     /evidence=ECO:0000269|PubMed:8340399"
     misc_feature    901..939
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="propagated from UniProtKB/Swiss-Prot (P02649.1);
                     Region: Specificity for association with VLDL.
                     /evidence=ECO:0000269|PubMed:8071364"
     misc_feature    988..990
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:19838169; propagated from
                     UniProtKB/Swiss-Prot (P02649.1); glycosylation site"
     misc_feature    991..993
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:19838169,
                     ECO:0000269|PubMed:20511397; propagated from
                     UniProtKB/Swiss-Prot (P02649.1); glycosylation site"
     misc_feature    1009..1011
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:23234360; propagated from
                     UniProtKB/Swiss-Prot (P02649.1); glycosylation site"
     regulatory      1141..1146
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="hexamer: AATAAA"
     polyA_site      1166
                     /gene="APOE"
                     /gene_synonym="AD2; APO-E; ApoE4; LDLCQ5; LPG"
                     /note="major polyA site"
ORIGIN
        1 ctactcagcc ccagcggagg tgaaggacgt ccttccccag gagccgactg gccaatcaca
       61 ggcaggaaga tgaaggttct gtgggctgcg ttgctggtca cattcctggc aggatgccag
      121 gccaaggtgg agcaagcggt ggagacagag ccggagcccg agctgcgcca gcagaccgag
      181 tggcagagcg gccagcgctg ggaactggca ctgggtcgct tttgggatta cctgcgctgg
      241 gtgcagacac tgtctgagca ggtgcaggag gagctgctca gctcccaggt cacccaggaa
      301 ctgagggcgc tgatggacga gaccatgaag gagttgaagg cctacaaatc ggaactggag
      361 gaacaactga ccccggtggc ggaggagacg cgggcacggc tgtccaagga gctgcaggcg
      421 gcgcaggccc ggctgggcgc ggacatggag gacgtgtgcg gccgcctggt gcagtaccgc
      481 ggcgaggtgc aggccatgct cggccagagc accgaggagc tgcgggtgcg cctcgcctcc
      541 cacctgcgca agctgcgtaa gcggctcctc cgcgatgccg atgacctgca gaagcgcctg
      601 gcagtgtacc aggccggggc ccgcgagggc gccgagcgcg gcctcagcgc catccgcgag
      661 cgcctggggc ccctggtgga acagggccgc gtgcgggccg ccactgtggg ctccctggcc
      721 ggccagccgc tacaggagcg ggcccaggcc tggggcgagc ggctgcgcgc gcggatggag
      781 gagatgggca gccggacccg cgaccgcctg gacgaggtga aggagcaggt ggcggaggtg
      841 cgcgccaagc tggaggagca ggcccagcag atacgcctgc aggccgaggc cttccaggcc
      901 cgcctcaaga gctggttcga gcccctggtg gaagacatgc agcgccagtg ggccgggctg
      961 gtggagaagg tgcaggctgc cgtgggcacc agcgccgccc ctgtgcccag cgacaatcac
     1021 tgaacgccga agcctgcagc catgcgaccc cacgccaccc cgtgcctcct gcctccgcgc
     1081 agcctgcagc gggagaccct gtccccgccc cagccgtcct cctggggtgg accctagttt
     1141 aataaagatt caccaagttt cacgca
//
LOCUS       NM_000042               1174 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens apolipoprotein H (APOH), mRNA.
ACCESSION   NM_000042
VERSION     NM_000042.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1174)
  AUTHORS   Deng X, Sang Q, Zhang R, Mu J and Bao S.
  TITLE     The association of APOH and NCF1 polymorphisms on susceptibility to
            recurrent pregnancy loss in women with antiphospholipid syndrome
  JOURNAL   J Assist Reprod Genet 40 (7), 1703-1712 (2023)
   PUBMED   37243946
  REMARK    GeneRIF: The association of APOH and NCF1 polymorphisms on
            susceptibility to recurrent pregnancy loss in women with
            antiphospholipid syndrome.
REFERENCE   2  (bases 1 to 1174)
  AUTHORS   Lu Y, Wang Y, Qiu Y and Xuan W.
  TITLE     Analysis of the Relationship between the Expression Level of TTR and
            APOH and Prognosis in Patients with Colorectal Cancer Metastasis
            Based on Bioinformatics
  JOURNAL   Contrast Media Mol Imaging 2022, 1121312 (2022)
   PUBMED   36101808
  REMARK    GeneRIF: Analysis of the Relationship between the Expression Level
            of TTR and APOH and Prognosis in Patients with Colorectal Cancer
            Metastasis Based on Bioinformatics. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1174)
  AUTHORS   Kumar S, Chinnaraj M, Planer W, Zuo X, Macor P, Tedesco F and Pozzi
            N.
  TITLE     An allosteric redox switch in domain V of beta2-glycoprotein I
            controls membrane binding and anti-domain I autoantibody recognition
  JOURNAL   J Biol Chem 297 (2), 100890 (2021)
   PUBMED   34197876
  REMARK    GeneRIF: An allosteric redox switch in domain V of
            beta2-glycoprotein I controls membrane binding and anti-domain I
            autoantibody recognition.
REFERENCE   4  (bases 1 to 1174)
  AUTHORS   Krilis M, Qi M, Ioannou Y, Zhang JY, Ahmadi Z, Wong JWH,
            Vlachoyiannopoulos PG, Moutsopoulos HM, Koike T, Sturgess AD, Chong
            BH, Krilis SA and Giannakopoulos B.
  TITLE     Clinical relevance of nitrated beta 2-glycoprotein I in
            antiphospholipid syndrome: Implications for thrombosis risk
  JOURNAL   J Autoimmun 122, 102675 (2021)
   PUBMED   34098405
  REMARK    GeneRIF: Clinical relevance of nitrated beta 2-glycoprotein I in
            antiphospholipid syndrome: Implications for thrombosis risk.
REFERENCE   5  (bases 1 to 1174)
  AUTHORS   Tang KT, Wu TY, Chen HH, Lin CC and Hsu YH.
  TITLE     Cardiolipin interacts with beta-2-glycoprotein I and forms an open
            conformation-Mechanisms analyzed using hydrogen/deuterium exchange
  JOURNAL   Protein Sci 30 (5), 927-939 (2021)
   PUBMED   33641242
  REMARK    GeneRIF: Cardiolipin interacts with beta-2-glycoprotein I and forms
            an open conformation-Mechanisms analyzed using hydrogen/deuterium
            exchange.
REFERENCE   6  (bases 1 to 1174)
  AUTHORS   Steinkasserer A, Barlow PN, Willis AC, Kertesz Z, Campbell ID, Sim
            RB and Norman DG.
  TITLE     Activity, disulphide mapping and structural modelling of the fifth
            domain of human beta 2-glycoprotein I
  JOURNAL   FEBS Lett 313 (2), 193-197 (1992)
   PUBMED   1426288
REFERENCE   7  (bases 1 to 1174)
  AUTHORS   Matsuura E, Igarashi Y, Fujimoto M, Ichikawa K, Suzuki T, Sumida T,
            Yasuda T and Koike T.
  TITLE     Heterogeneity of anticardiolipin antibodies defined by the
            anticardiolipin cofactor
  JOURNAL   J Immunol 148 (12), 3885-3891 (1992)
   PUBMED   1602135
REFERENCE   8  (bases 1 to 1174)
  AUTHORS   Steinkasserer A, Cockburn DJ, Black DM, Boyd Y, Solomon E and Sim
            RB.
  TITLE     Assignment of apolipoprotein H (APOH: beta-2-glycoprotein I) to
            human chromosome 17q23----qter; determination of the major
            expression site
  JOURNAL   Cytogenet Cell Genet 60 (1), 31-33 (1992)
   PUBMED   1582254
REFERENCE   9  (bases 1 to 1174)
  AUTHORS   Day JR, O'Hara PJ, Grant FJ, Lofton-Day C, Berkaw MN, Werner P and
            Arnaud P.
  TITLE     Molecular cloning and sequence analysis of the cDNA encoding human
            apolipoprotein H (beta 2-glycoprotein I)
  JOURNAL   Int J Clin Lab Res 21 (3), 256-263 (1992)
   PUBMED   1339416
REFERENCE   10  (bases 1 to 1174)
  AUTHORS   Polz,E. and Kostner,G.M.
  TITLE     The binding of beta 2-glycoprotein-I to human serum lipoproteins:
            distribution among density fractions
  JOURNAL   FEBS Lett 102 (1), 183-186 (1979)
   PUBMED   222615
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X57847.1, M62839.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145122,
            SAMEA2162895 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000205948.11/ ENSP00000205948.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG566874.1 and BC026283.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000042.2.
            Summary: Apolipoprotein H, also known as beta-2-glycoprotein I, is
            a component of circulating plasma lipoproteins. It has been
            implicated in a variety of physiologic pathways including
            lipoprotein metabolism, coagulation, hemostasis, and the production
            of antiphospholipid autoantibodies. APOH may be a required cofactor
            for anionic phospholipid binding by the antiphospholipid
            autoantibodies found in sera of many patients with lupus and
            primary antiphospholipid syndrome (APS). The anti-beta (2)
            glycoprotein I antibodies from APS patients, mediate inhibition of
            activated protein C which has anticoagulant properties. Because
            beta-2-GPI is the main autoantigen in patients with APS, the
            disruption of this pathway by autoantibodies may be an important
            mechanism for thrombosis in patients with APS.[provided by RefSeq,
            Dec 2019].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1174
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.2"
     gene            1..1174
                     /gene="APOH"
                     /gene_synonym="B2G1; B2GP1; BG"
                     /note="apolipoprotein H"
                     /db_xref="GeneID:350"
                     /db_xref="HGNC:HGNC:616"
                     /db_xref="MIM:138700"
     misc_feature    13..15
                     /gene="APOH"
                     /gene_synonym="B2G1; B2GP1; BG"
                     /note="upstream in-frame stop codon"
     CDS             37..1074
                     /gene="APOH"
                     /gene_synonym="B2G1; B2GP1; BG"
                     /note="beta-2-glycoprotein 1; beta(2)GPI; APC inhibitor;
                     anticardiolipin cofactor; activated protein C-binding
                     protein; B2GPI; apo-H; apolipoprotein H
                     (beta-2-glycoprotein I); epididymis secretory sperm binding
                     protein"
                     /codon_start=1
                     /product="beta-2-glycoprotein 1 precursor"
                     /protein_id="NP_000033.2"
                     /db_xref="CCDS:CCDS11663.1"
                     /db_xref="GeneID:350"
                     /db_xref="HGNC:HGNC:616"
                     /db_xref="MIM:138700"
                     /translation="MISPVLILFSSFLCHVAIAGRTCPKPDDLPFSTVVPLKTFYEPGE
                     EITYSCKPGYVSRGGMRKFICPLTGLWPINTLKCTPRVCPFAGILENGAVRYTTFEYPN
                     TISFSCNTGFYLNGADSAKCTEEGKWSPELPVCAPIICPPPSIPTFATLRVYKPSAGNN
                     SLYRDTAVFECLPQHAMFGNDTITCTTHGNWTKLPECREVKCPFPSRPDNGFVNYPAKP
                     TLYYKDKATFGCHDGYSLDGPEEIECTKLGNWSAMPSCKASCKVPVKKATVVYQGERVK
                     IQEKFKNGMLHGDKVSFFCKNKEKKCSYTEDAQCIDGTIEVPKCFKEHSSLAFWKTDAS
                     DVKPC"
     sig_peptide     37..93
                     /gene="APOH"
                     /gene_synonym="B2G1; B2GP1; BG"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     94..1071
                     /gene="APOH"
                     /gene_synonym="B2G1; B2GP1; BG"
                     /product="beta-2-glycoprotein 1"
     misc_feature    133..135
                     /gene="APOH"
                     /gene_synonym="B2G1; B2GP1; BG"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000250|UniProtKB:P17690; propagated from
                     UniProtKB/Swiss-Prot (P02749.3); glycosylation site"
     misc_feature    481..483
                     /gene="APOH"
                     /gene_synonym="B2G1; B2GP1; BG"
                     /note="O-linked (GalNAc...) threonine; propagated from
                     UniProtKB/Swiss-Prot (P02749.3); glycosylation site"
     misc_feature    520..522
                     /gene="APOH"
                     /gene_synonym="B2G1; B2GP1; BG"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:15084671, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:16740002, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19838169,
                     ECO:0000269|PubMed:6587378; propagated from
                     UniProtKB/Swiss-Prot (P02749.3); glycosylation site"
     misc_feature    583..585
                     /gene="APOH"
                     /gene_synonym="B2G1; B2GP1; BG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:6587378; propagated from
                     UniProtKB/Swiss-Prot (P02749.3); glycosylation site"
     misc_feature    613..615
                     /gene="APOH"
                     /gene_synonym="B2G1; B2GP1; BG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:6587378; propagated from
                     UniProtKB/Swiss-Prot (P02749.3); glycosylation site"
     misc_feature    793..795
                     /gene="APOH"
                     /gene_synonym="B2G1; B2GP1; BG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15084671,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:16740002,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:6587378;
                     propagated from UniProtKB/Swiss-Prot (P02749.3);
                     glycosylation site"
     misc_feature    823..1071
                     /gene="APOH"
                     /gene_synonym="B2G1; B2GP1; BG"
                     /note="propagated from UniProtKB/Swiss-Prot (P02749.3);
                     Region: Sushi-like"
     regulatory      1148..1153
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOH"
                     /gene_synonym="B2G1; B2GP1; BG"
                     /note="hexamer: AATAAA"
     polyA_site      1174
                     /gene="APOH"
                     /gene_synonym="B2G1; B2GP1; BG"
                     /note="major polyA site"
ORIGIN
        1 aaaccacttt ggtagtgcca gtgtgactca tccacaatga tttctccagt gctcatcttg
       61 ttctcgagtt ttctctgcca tgttgctatt gcaggacgga cctgtcccaa gccagatgat
      121 ttaccatttt ccacagtggt cccgttaaaa acattctatg agccaggaga agagattacg
      181 tattcctgca agccgggcta tgtgtcccga ggagggatga gaaagtttat ctgccctctc
      241 acaggactgt ggcccatcaa cactctgaaa tgtacaccca gagtatgtcc ttttgctgga
      301 atcttagaaa atggagccgt acgctatacg acttttgaat atcccaacac gatcagtttt
      361 tcttgtaaca ctgggtttta tctgaatggc gctgattctg ccaagtgcac tgaggaagga
      421 aaatggagcc cggagcttcc tgtctgtgct cccatcatct gccctccacc atccatacct
      481 acgtttgcaa cacttcgtgt ttataagcca tcagctggaa acaattccct ctatcgggac
      541 acagcagttt ttgaatgttt gccacaacat gcgatgtttg gaaatgatac aattacctgc
      601 acgacacatg gaaattggac taaattacca gaatgcaggg aagtaaaatg cccattccca
      661 tcaagaccag acaatggatt tgtgaactat cctgcaaaac caacacttta ttacaaggat
      721 aaagccacat ttggctgcca tgatggatat tctctggatg gcccggaaga aatagaatgt
      781 accaaactgg gaaactggtc tgccatgcca agttgtaaag catcttgtaa agtacctgtg
      841 aaaaaagcca ctgtggtgta ccaaggagag agagtaaaga ttcaggaaaa atttaagaat
      901 ggaatgctac atggtgataa agtttctttc ttctgcaaaa ataaggaaaa gaagtgtagc
      961 tatacagagg atgctcagtg tatagatggc actatcgaag tccccaaatg cttcaaggaa
     1021 cacagttctc tggctttttg gaaaactgat gcatccgatg taaagccatg ctaaggtggt
     1081 tttcagattc cacacaaaat gtcacacttg tttcttgttc atccaaggaa cctaattgaa
     1141 atttaaaaat aaagctactg aatttattgc cgca
//
LOCUS       NM_000043               3696 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens Fas cell surface death receptor (FAS), transcript
            variant 1, mRNA.
ACCESSION   NM_000043
VERSION     NM_000043.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3696)
  AUTHORS   Kim HK, Kim SY, Kwak JH and Kim HJ.
  TITLE     Glycemic Index, Glycemic Load, and FAS rs6586161 Polymorphism in
            Relation to Gastric Cancer Risk: A Case-Control Study in Korea
  JOURNAL   Nutrients 15 (14), 3238 (2023)
   PUBMED   37513656
  REMARK    GeneRIF: Glycemic Index, Glycemic Load, and FAS rs6586161
            Polymorphism in Relation to Gastric Cancer Risk: A Case-Control
            Study in Korea. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3696)
  AUTHORS   Lorente L, Martin MM, Perez-Cejas A, Ferrer-Moure C, Ramos-Gomez L,
            Sole-Violan J, Caceres JJ, Jimenez A and Gonzalez-Rivero AF.
  TITLE     Blood soluble Fas concentrations and ischemic stroke patient
            mortality
  JOURNAL   Expert Rev Mol Diagn 22 (12), 1117-1121 (2022)
   PUBMED   36621530
  REMARK    GeneRIF: Blood soluble Fas concentrations and ischemic stroke
            patient mortality.
REFERENCE   3  (bases 1 to 3696)
  AUTHORS   Tessarin G, Baronio M, Gazzurelli L, Rossi S, Gorio C, Bertoni E,
            Chiarini M, Moratto D, Mazza C, Porta F, Badolato R and Lougaris V.
  TITLE     Clinical and immunological analysis of a large kindred affected by
            autoimmune lymphoproliferative syndrome (ALPS) due to a novel
            TNFRSF6 mutation displaying age dependent disease activity
  JOURNAL   Clin Immunol 245, 109136 (2022)
   PUBMED   36184054
  REMARK    GeneRIF: Clinical and immunological analysis of a large kindred
            affected by autoimmune lymphoproliferative syndrome (ALPS) due to a
            novel TNFRSF6 mutation displaying age dependent disease activity.
REFERENCE   4  (bases 1 to 3696)
  AUTHORS   Asgari R, Bidmeshkipour A, Mansouri K, Bakhtiari M, Mozafari H and
            Abdolmaleki A.
  TITLE     Fas cell surface death receptor/Fas ligand genetic variants in
            gastric cancer patients: A case-control study
  JOURNAL   Indian J Med Res 156 (1), 77-82 (2022)
   PUBMED   36124496
  REMARK    GeneRIF: Fas cell surface death receptor/Fas ligand genetic variants
            in gastric cancer patients: A case-control study.
REFERENCE   5  (bases 1 to 3696)
  AUTHORS   Jenkins M, Keir M and McCune JM.
  TITLE     A membrane-bound Fas decoy receptor expressed by human thymocytes
  JOURNAL   J Biol Chem 275 (11), 7988-7993 (2000)
   PUBMED   10713117
REFERENCE   6  (bases 1 to 3696)
  AUTHORS   Cascino I, Papoff G, Eramo A and Ruberti G.
  TITLE     Soluble Fas/Apo-1 splicing variants and apoptosis
  JOURNAL   Front Biosci 1, d12-d18 (1996)
   PUBMED   9159204
  REMARK    GeneRIF: A review of alternative spliced APO-1 variants and their
            possible biological roles. Review article Publication Status:
            Online-Only
REFERENCE   7  (bases 1 to 3696)
  AUTHORS   Cheng J, Zhou T, Liu C, Shapiro JP, Brauer MJ, Kiefer MC, Barr PJ
            and Mountz JD.
  TITLE     Protection from Fas-mediated apoptosis by a soluble form of the Fas
            molecule
  JOURNAL   Science 263 (5154), 1759-1762 (1994)
   PUBMED   7510905
REFERENCE   8  (bases 1 to 3696)
  AUTHORS   Bleesing,J.J.H., Nagaraj,C.B. and Zhang,K.
  TITLE     Autoimmune Lymphoproliferative Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301287
REFERENCE   9  (bases 1 to 3696)
  AUTHORS   Inazawa J, Itoh N, Abe T and Nagata S.
  TITLE     Assignment of the human Fas antigen gene (Fas) to 10q24.1
  JOURNAL   Genomics 14 (3), 821-822 (1992)
   PUBMED   1385309
REFERENCE   10  (bases 1 to 3696)
  AUTHORS   Oehm A, Behrmann I, Falk W, Pawlita M, Maier G, Klas C, Li-Weber M,
            Richards S, Dhein J, Trauth BC et al.
  TITLE     Purification and molecular cloning of the APO-1 cell surface
            antigen, a member of the tumor necrosis factor/nerve growth factor
            receptor superfamily. Sequence identity with the Fas antigen
  JOURNAL   J Biol Chem 267 (15), 10709-10715 (1992)
   PUBMED   1375228
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.69751.1,
            SRR1163657.562566.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000652046.1/ ENSP00000498466.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC012479.1, AK290978.1,
            AL157394.15, AK026195.1 and BU620333.1.
            On Nov 22, 2018 this sequence version replaced NM_000043.5.
            Summary: The protein encoded by this gene is a member of the
            TNF-receptor superfamily. This receptor contains a death domain. It
            has been shown to play a central role in the physiological
            regulation of programmed cell death, and has been implicated in the
            pathogenesis of various malignancies and diseases of the immune
            system. The interaction of this receptor with its ligand allows the
            formation of a death-inducing signaling complex that includes
            Fas-associated death domain protein (FADD), caspase 8, and caspase
            10. The autoproteolytic processing of the caspases in the complex
            triggers a downstream caspase cascade, and leads to apoptosis. This
            receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and
            MAPK8/JNK, and is found to be involved in transducing the
            proliferating signals in normal diploid fibroblast and T cells.
            Several alternatively spliced transcript variants have been
            described, some of which are candidates for nonsense-mediated mRNA
            decay (NMD). The isoforms lacking the transmembrane domain may
            negatively regulate the apoptosis mediated by the full length
            isoform. [provided by RefSeq, Mar 2011].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3696
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.31"
     gene            1..3696
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="Fas cell surface death receptor"
                     /db_xref="GeneID:355"
                     /db_xref="HGNC:HGNC:11920"
                     /db_xref="MIM:134637"
     CDS             80..1087
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; tumor necrosis factor receptor superfamily, member 6;
                     APO-1 cell surface antigen; apoptosis antigen 1; Fas AMA;
                     CD95 antigen; FASLG receptor; apoptosis-mediating surface
                     antigen FAS; apoptosis signaling receptor FAS; Fas (TNF
                     receptor superfamily, member 6); TNF receptor superfamily
                     member 6; mutant tumor necrosis receptor superfamily member
                     6"
                     /codon_start=1
                     /product="tumor necrosis factor receptor superfamily member
                     6 isoform 1 precursor"
                     /protein_id="NP_000034.1"
                     /db_xref="CCDS:CCDS7393.1"
                     /db_xref="GeneID:355"
                     /db_xref="HGNC:HGNC:11920"
                     /db_xref="MIM:134637"
                     /translation="MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVE
                     TQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRC
                     RLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLTSNT
                     KCKEEGSRSNLGWLCLLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAI
                     NLSDVDLSKYITTIAGVMTLSQVKGFVRKNGVNEAKIDEIKNDNVQDTAEQKVQLLRNW
                     HQLHGKKEAYDTLIKDLKKANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV"
     sig_peptide     80..154
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     155..1084
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /product="Tumor necrosis factor receptor superfamily member
                     6. /id=PRO_0000034563"
                     /note="propagated from UniProtKB/Swiss-Prot (P25445.1)"
     misc_feature    161..163
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:22171320; propagated from
                     UniProtKB/Swiss-Prot (P25445.1); glycosylation site"
     misc_feature    218..328
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="propagated from UniProtKB/Swiss-Prot (P25445.1);
                     Region: TNFR-Cys 1"
     misc_feature    329..460
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="propagated from UniProtKB/Swiss-Prot (P25445.1);
                     Region: TNFR-Cys 2"
     misc_feature    431..433
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P25445.1); glycosylation site"
     misc_feature    461..577
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="propagated from UniProtKB/Swiss-Prot (P25445.1);
                     Region: TNFR-Cys 3"
     misc_feature    485..487
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P25445.1); glycosylation site"
     misc_feature    599..649
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="propagated from UniProtKB/Swiss-Prot (P25445.1);
                     transmembrane region"
     misc_feature    704..706
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P25445.1); phosphorylation site"
     misc_feature    713..1030
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="propagated from UniProtKB/Swiss-Prot (P25445.1);
                     Region: Interaction with HIPK3. /evidence=ECO:0000250"
     misc_feature    719..721
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P25446; propagated from
                     UniProtKB/Swiss-Prot (P25445.1); phosphorylation site"
     misc_feature    752..754
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P25445.1); phosphorylation site"
     misc_feature    767..841
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="propagated from UniProtKB/Swiss-Prot (P25445.1);
                     Region: Interaction with CALM.
                     /evidence=ECO:0000269|PubMed:24914971"
     misc_feature    827..829
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="(Microbial infection) N-beta-linked (GlcNAc)
                     arginine. /evidence=ECO:0000269|PubMed:30979585,
                     ECO:0000305|PubMed:23955153; propagated from
                     UniProtKB/Swiss-Prot (P25445.1); glycosylation site"
     regulatory      1716..1721
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="hexamer: ATTAAA"
     polyA_site      1740
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="major polyA site"
     regulatory      2403..2408
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="hexamer: ATTAAA"
     polyA_site      2422
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="major polyA site"
     regulatory      3677..3682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
                     /note="hexamer: ATTAAA"
     polyA_site      3696
                     /gene="FAS"
                     /gene_synonym="ALPS1A; APO-1; APT1; CD95; FAS1; FASTM;
                     TNFRSF6"
ORIGIN
        1 ctcttctccc gcgggttggt ggacccgctc agtacggagt tggggaagct ctttcacttc
       61 ggaggattgc tcaacaacca tgctgggcat ctggaccctc ctacctctgg ttcttacgtc
      121 tgttgctaga ttatcgtcca aaagtgttaa tgcccaagtg actgacatca actccaaggg
      181 attggaattg aggaagactg ttactacagt tgagactcag aacttggaag gcctgcatca
      241 tgatggccaa ttctgccata agccctgtcc tccaggtgaa aggaaagcta gggactgcac
      301 agtcaatggg gatgaaccag actgcgtgcc ctgccaagaa gggaaggagt acacagacaa
      361 agcccatttt tcttccaaat gcagaagatg tagattgtgt gatgaaggac atggcttaga
      421 agtggaaata aactgcaccc ggacccagaa taccaagtgc agatgtaaac caaacttttt
      481 ttgtaactct actgtatgtg aacactgtga cccttgcacc aaatgtgaac atggaatcat
      541 caaggaatgc acactcacca gcaacaccaa gtgcaaagag gaaggatcca gatctaactt
      601 ggggtggctt tgtcttcttc ttttgccaat tccactaatt gtttgggtga agagaaagga
      661 agtacagaaa acatgcagaa agcacagaaa ggaaaaccaa ggttctcatg aatctccaac
      721 tttaaatcct gaaacagtgg caataaattt atctgatgtt gacttgagta aatatatcac
      781 cactattgct ggagtcatga cactaagtca agttaaaggc tttgttcgaa agaatggtgt
      841 caatgaagcc aaaatagatg agatcaagaa tgacaatgtc caagacacag cagaacagaa
      901 agttcaactg cttcgtaatt ggcatcaact tcatggaaag aaagaagcgt atgacacatt
      961 gattaaagat ctcaaaaaag ccaatctttg tactcttgca gagaaaattc agactatcat
     1021 cctcaaggac attactagtg actcagaaaa ttcaaacttc agaaatgaaa tccaaagctt
     1081 ggtctagagt gaaaaacaac aaattcagtt ctgagtatat gcaattagtg tttgaaaaga
     1141 ttcttaatag ctggctgtaa atactgcttg gttttttact gggtacattt tatcatttat
     1201 tagcgctgaa gagccaacat atttgtagat ttttaatatc tcatgattct gcctccaagg
     1261 atgtttaaaa tctagttggg aaaacaaact tcatcaagag taaatgcagt ggcatgctaa
     1321 gtacccaaat aggagtgtat gcagaggatg aaagattaag attatgctct ggcatctaac
     1381 atatgattct gtagtatgaa tgtaatcagt gtatgttagt acaaatgtct atccacaggc
     1441 taaccccact ctatgaatca atagaagaag ctatgacctt ttgctgaaat atcagttact
     1501 gaacaggcag gccactttgc ctctaaatta cctctgataa ttctagagat tttaccatat
     1561 ttctaaactt tgtttataac tctgagaaga tcatatttat gtaaagtata tgtatttgag
     1621 tgcagaattt aaataaggct ctacctcaaa gacctttgca cagtttattg gtgtcatatt
     1681 atacaatatt tcaattgtga attcacatag aaaacattaa attataatgt ttgactatta
     1741 tatatgtgta tgcattttac tggctcaaaa ctacctactt ctttctcagg catcaaaagc
     1801 attttgagca ggagagtatt actagagctt tgccacctct ccatttttgc cttggtgctc
     1861 atcttaatgg cctaatgcac ccccaaacat ggaaatatca ccaaaaaata cttaatagtc
     1921 caccaaaagg caagactgcc cttagaaatt ctagcctggt ttggagatac taactgctct
     1981 cagagaaagt agctttgtga catgtcatga acccatgttt gcaatcaaag atgataaaat
     2041 agattcttat ttttccccca cccccgaaaa tgttcaataa tgtcccatgt aaaacctgct
     2101 acaaatggca gcttatacat agcaatggta aaatcatcat ctggatttag gaattgctct
     2161 tgtcataccc ccaagtttct aagatttaag attctcctta ctactatcct acgtttaaat
     2221 atctttgaaa gtttgtatta aatgtgaatt ttaagaaata atatttatat ttctgtaaat
     2281 gtaaactgtg aagatagtta taaactgaag cagatacctg gaaccaccta aagaacttcc
     2341 atttatggag gatttttttg ccccttgtgt ttggaattat aaaatatagg taaaagtacg
     2401 taattaaata atgtttttgg tatttctggt tttctctttt ttggtagggg cttgcttttt
     2461 ggttttgtct tccttttctc taactgatgc taaatataac ttgtctttaa tgcttcttgg
     2521 atcccttaga aggtacttcc tttttaacct taaccctttt agtagttaaa taattatttc
     2581 cataggttgc tattgccaag aagacctctt ccaaacagca catgattatt cgtcaaacag
     2641 tttcgtattc cagatactgg aatgtggata agaaagtata catttcaagg ggtaggtttt
     2701 attattaaga aagccaaatg aggattttga aatattcttt cctgcatatt atccattcta
     2761 gctacatgct ggccagtggg ccacctttct tttctgcaat ttaatgctag taatatattc
     2821 tatttaaccc atgagtccca aagtattagc atttcaacat gtaagcatgt cggtaagata
     2881 gttgtgcttt gcttagggtt ccctcctgtg ttatggtctg gaaagtgtct ttaggcagaa
     2941 agtctgagtg atcacagggt tcactcatta atttctcttt tctgagccat catagtctgt
     3001 gctgtctgct ctccagtttt ctatttctag acagaagtag ggcaagttag gtactagtta
     3061 ttcttcatgg ccagaagtgc aagttctact ttgcaagaca agattaagtt agagaacacc
     3121 ctattccact ttggtgaact cagagcaaga actttgagtt cctttgggag gaagacagtg
     3181 gagaagtctt tgtacttggt gatgtggttt ttttcctcat ggcttcacct agtggcccca
     3241 agcatgactt ctcccatgtc aatgagcaca gccacattcc cgagttgagg tgaccccacg
     3301 gtccagaatc atcctcattc tggtgaacct ggttctcttt gtggtgggca tactgggtag
     3361 gagaatcacc caaaggtcac ccatgagctg cagaaaaaaa ggctatttgc agaaggagct
     3421 cacagatcac attgaaagca ttgcatattc aaacatcttg gtcttcttta ttggcatgcc
     3481 cacagggtct tctgacctct gattagatca gacacttttt agatattgaa tcatcagttt
     3541 ctgtacaact atctgaataa ggtatataat caatgaaatt tagaattttt ttctatgctt
     3601 actcctgatt ggtaatttgt ttgggtttag aattctatac aaggccattt gtaattttcc
     3661 tcagcacttt aaaaatatta aaccatgttt tcttaa
//
LOCUS       NM_000044              10667 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.
ACCESSION   NM_000044
VERSION     NM_000044.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10667)
  AUTHORS   Ito S, Liu X, Ishikawa Y, Conti DD, Otomo N, Kote-Jarai Z, Suetsugu
            H, Eeles RA, Koike Y, Hikino K, Yoshino S, Tomizuka K, Horikoshi M,
            Ito K, Uchio Y, Momozawa Y, Kubo M, Kamatani Y, Matsuda K, Haiman
            CA, Ikegawa S, Nakagawa H and Terao C.
  CONSRTM   BioBank Japan Project
  TITLE     Androgen receptor binding sites enabling genetic prediction of
            mortality due to prostate cancer in cancer-free subjects
  JOURNAL   Nat Commun 14 (1), 4863 (2023)
   PUBMED   37612283
  REMARK    GeneRIF: Androgen receptor binding sites enabling genetic prediction
            of mortality due to prostate cancer in cancer-free subjects.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 10667)
  AUTHORS   Yang X, Guo Z, Sun F, Li W, Alfano A, Shimelis H, Chen M, Brodie
            AMH, Chen H, Xiao Z, Veenstra TD and Qiu Y.
  TITLE     Novel membrane-associated androgen receptor splice variant
            potentiates proliferative and survival responses in prostate cancer
            cells
  JOURNAL   J Biol Chem 286 (41), 36152-36160 (2011)
   PUBMED   21878636
  REMARK    GeneRIF: the membrane-associated AR8 isoform may contribute to
            castration resistance by potentiating AR-mediated proliferative and
            survival responses to hormones and growth factors.
REFERENCE   3  (bases 1 to 10667)
  AUTHORS   Watson PA, Chen YF, Balbas MD, Wongvipat J, Socci ND, Viale A, Kim K
            and Sawyers CL.
  TITLE     Constitutively active androgen receptor splice variants expressed in
            castration-resistant prostate cancer require full-length androgen
            receptor
  JOURNAL   Proc Natl Acad Sci U S A 107 (39), 16759-16765 (2010)
   PUBMED   20823238
REFERENCE   4  (bases 1 to 10667)
  AUTHORS   Sun S, Sprenger CC, Vessella RL, Haugk K, Soriano K, Mostaghel EA,
            Page ST, Coleman IM, Nguyen HM, Sun H, Nelson PS and Plymate SR.
  TITLE     Castration resistance in human prostate cancer is conferred by a
            frequently occurring androgen receptor splice variant
  JOURNAL   J Clin Invest 120 (8), 2715-2730 (2010)
   PUBMED   20644256
REFERENCE   5  (bases 1 to 10667)
  AUTHORS   Guo Z, Yang X, Sun F, Jiang R, Linn DE, Chen H, Chen H, Kong X,
            Melamed J, Tepper CG, Kung HJ, Brodie AM, Edwards J and Qiu Y.
  TITLE     A novel androgen receptor splice variant is up-regulated during
            prostate cancer progression and promotes androgen
            depletion-resistant growth
  JOURNAL   Cancer Res 69 (6), 2305-2313 (2009)
   PUBMED   19244107
REFERENCE   6  (bases 1 to 10667)
  AUTHORS   Hu R, Dunn TA, Wei S, Isharwal S, Veltri RW, Humphreys E, Han M,
            Partin AW, Vessella RL, Isaacs WB, Bova GS and Luo J.
  TITLE     Ligand-independent androgen receptor variants derived from splicing
            of cryptic exons signify hormone-refractory prostate cancer
  JOURNAL   Cancer Res 69 (1), 16-22 (2009)
   PUBMED   19117982
REFERENCE   7  (bases 1 to 10667)
  AUTHORS   Ahrens-Fath I, Politz O, Geserick C and Haendler B.
  TITLE     Androgen receptor function is modulated by the tissue-specific AR45
            variant
  JOURNAL   FEBS J 272 (1), 74-84 (2005)
   PUBMED   15634333
  REMARK    GeneRIF: data suggest an important role of AR45 in modulating AR
            function and add a novel level of complexity to the mode of action
            of androgens
REFERENCE   8  (bases 1 to 10667)
  AUTHORS   Gottlieb,B. and Trifiro,M.A.
  TITLE     Androgen Insensitivity Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301602
REFERENCE   9  (bases 1 to 10667)
  AUTHORS   La Spada,A.
  TITLE     Spinal and Bulbar Muscular Atrophy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301508
REFERENCE   10  (bases 1 to 10667)
  AUTHORS   Wooster R, Mangion J, Eeles R, Smith S, Dowsett M, Averill D,
            Barrett-Lee P, Easton DF, Ponder BA and Stratton MR.
  TITLE     A germline mutation in the androgen receptor gene in two brothers
            with breast cancer and Reifenstein syndrome
  JOURNAL   Nat Genet 2 (2), 132-134 (1992)
   PUBMED   1303262
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M20132.1, BC132975.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374690.9/ ENSP00000363822.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049564.11, BC132975.1,
            AF321915.1, M20132.1, AL356358.19 and AA505591.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000044.5.
            Summary: The androgen receptor gene is more than 90 kb long and
            codes for a protein that has 3 major functional domains: the
            N-terminal domain, DNA-binding domain, and androgen-binding domain.
            The protein functions as a steroid-hormone activated transcription
            factor. Upon binding the hormone ligand, the receptor dissociates
            from accessory proteins, translocates into the nucleus, dimerizes,
            and then stimulates transcription of androgen responsive genes.
            This gene contains 2 polymorphic trinucleotide repeat segments that
            encode polyglutamine and polyglycine tracts in the N-terminal
            transactivation domain of its protein. Expansion of the
            polyglutamine tract from the normal 9-34 repeats to the pathogenic
            38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also
            known as Kennedy's disease). Mutations in this gene are also
            associated with complete androgen insensitivity (CAIS). Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Jan 2017].
            Transcript Variant: This variant (1, also known as AR-FL in
            PMID:20823238) represents the longest transcript and encodes the
            longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..10667
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq12"
     gene            1..10667
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="androgen receptor"
                     /db_xref="GeneID:367"
                     /db_xref="HGNC:HGNC:644"
                     /db_xref="MIM:313700"
     misc_feature    1022..1024
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="upstream in-frame stop codon"
     CDS             1127..3889
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dihydrotestosterone receptor; nuclear receptor subfamily 3
                     group C member 4"
                     /codon_start=1
                     /product="androgen receptor isoform 1"
                     /protein_id="NP_000035.2"
                     /db_xref="CCDS:CCDS14387.1"
                     /db_xref="GeneID:367"
                     /db_xref="HGNC:HGNC:644"
                     /db_xref="MIM:313700"
                     /translation="MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAA
                     SAAPPGASLLLLQQQQQQQQQQQQQQQQQQQQQQQETSPRQQQQQQGEDGSPQAHRRGP
                     TGYLVLDEEQQPSQPQSALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAAPST
                     LSLLGPTFPGLSSCSADLKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSK
                     DNYLGGTSTISDNAKELCKAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRP
                     TPCAPLAECKGSLLDDSAGKSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLE
                     LPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAW
                     AAAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGG
                     GGGGGGGGGGGGGGGEAGAVAPYGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSP
                     TCVKSEMGPWMDSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALT
                     CGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKL
                     GNLKLQEEGEASSTTSPTEETTQKLTVSHIEGYECQPIFLNVLEAIEPGVVCAGHDNNQ
                     PDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWR
                     SFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALL
                     LFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLTKLLDSVQPIA
                     RELHQFTFDLLIKSHMVSVDFPEMMAEIISVQVPKILSGKVKPIYFHTQ"
     misc_feature    1127..2887
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="propagated from UniProtKB/Swiss-Prot (P10275.3);
                     Region: Interaction with ZNF318.
                     /evidence=ECO:0000250|UniProtKB:P19091"
     misc_feature    1127..2803
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="propagated from UniProtKB/Swiss-Prot (P10275.3);
                     Region: Modulating"
     misc_feature    1232..1627
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="propagated from UniProtKB/Swiss-Prot (P10275.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1373..1375
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Phosphoserine, by CDK9.
                     /evidence=ECO:0000269|PubMed:20980437; propagated from
                     UniProtKB/Swiss-Prot (P10275.3); phosphorylation site"
     misc_feature    1412..1414
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P10275.3); phosphorylation site"
     misc_feature    1709..1810
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="propagated from UniProtKB/Swiss-Prot (P10275.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1799..1801
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Phosphotyrosine, by CSK.
                     /evidence=ECO:0000269|PubMed:17045208; propagated from
                     UniProtKB/Swiss-Prot (P10275.3); phosphorylation site"
     misc_feature    1898..1900
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P10275.3); phosphorylation site"
     misc_feature    1931..1933
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Phosphotyrosine, by CSK and TNK2.
                     /evidence=ECO:0000269|PubMed:17045208,
                     ECO:0000269|PubMed:17494760, ECO:0000269|PubMed:20623637;
                     propagated from UniProtKB/Swiss-Prot (P10275.3);
                     phosphorylation site"
     misc_feature    2051..2053
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Phosphotyrosine, by CSK.
                     /evidence=ECO:0000269|PubMed:17045208; propagated from
                     UniProtKB/Swiss-Prot (P10275.3); phosphorylation site"
     misc_feature    2168..2170
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Phosphotyrosine, by CSK.
                     /evidence=ECO:0000269|PubMed:17045208; propagated from
                     UniProtKB/Swiss-Prot (P10275.3); phosphorylation site"
     misc_feature    2201..2203
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Phosphotyrosine, by CSK.
                     /evidence=ECO:0000269|PubMed:17045208; propagated from
                     UniProtKB/Swiss-Prot (P10275.3); phosphorylation site"
     misc_feature    2216..2218
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Phosphotyrosine, by CSK.
                     /evidence=ECO:0000269|PubMed:17045208; propagated from
                     UniProtKB/Swiss-Prot (P10275.3); phosphorylation site"
     misc_feature    2219..2221
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Phosphotyrosine, by CSK and TNK2.
                     /evidence=ECO:0000269|PubMed:17045208,
                     ECO:0000269|PubMed:17494760; propagated from
                     UniProtKB/Swiss-Prot (P10275.3); phosphorylation site"
     misc_feature    2309..2311
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Phosphotyrosine, by CSK.
                     /evidence=ECO:0000269|PubMed:17045208; propagated from
                     UniProtKB/Swiss-Prot (P10275.3); phosphorylation site"
     misc_feature    2729..2731
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Phosphotyrosine, by CSK.
                     /evidence=ECO:0000269|PubMed:17045208; propagated from
                     UniProtKB/Swiss-Prot (P10275.3); phosphorylation site"
     misc_feature    2780..3883
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="propagated from UniProtKB/Swiss-Prot (P10275.3);
                     Region: Interaction with LPXN.
                     /evidence=ECO:0000269|PubMed:18451096"
     misc_feature    2780..2782
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Phosphotyrosine, by CSK.
                     /evidence=ECO:0000269|PubMed:17045208; propagated from
                     UniProtKB/Swiss-Prot (P10275.3); phosphorylation site"
     misc_feature    2840..3112
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="propagated from UniProtKB/Swiss-Prot (P10275.3);
                     Region: Interaction with HIPK3.
                     /evidence=ECO:0000250|UniProtKB:P15207"
     misc_feature    2900..3883
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="propagated from UniProtKB/Swiss-Prot (P10275.3);
                     Region: Interaction with CCAR1.
                     /evidence=ECO:0000269|PubMed:23887938"
     misc_feature    2999..3883
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="propagated from UniProtKB/Swiss-Prot (P10275.3);
                     Region: Interaction with KAT7.
                     /evidence=ECO:0000269|PubMed:10930412"
     misc_feature    3077..3079
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Phosphoserine, by STK4/MST1.
                     /evidence=ECO:0000269|PubMed:21512132; propagated from
                     UniProtKB/Swiss-Prot (P10275.3); phosphorylation site"
     misc_feature    3287..3289
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Interaction with coactivator LXXL and FXXFY motifs.
                     /evidence=ECO:0000269|PubMed:25091737; propagated from
                     UniProtKB/Swiss-Prot (P10275.3); other site"
     misc_feature    3818..3820
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Interaction with coactivator FXXLF and FXXFY motifs.
                     /evidence=ECO:0000269|PubMed:25091737; propagated from
                     UniProtKB/Swiss-Prot (P10275.3); other site"
     misc_feature    3872..3874
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="Phosphotyrosine, by CSK.
                     /evidence=ECO:0000269|PubMed:17045208; propagated from
                     UniProtKB/Swiss-Prot (P10275.3); phosphorylation site"
     regulatory      10190..10195
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="hexamer: GATAAA"
     polyA_site      10223
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="major polyA site"
     regulatory      10419..10424
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="hexamer: ATTAAA"
     polyA_site      10448
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="major polyA site"
     regulatory      10650..10655
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="hexamer: AAGAAA"
     polyA_site      10667
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="major polyA site"
ORIGIN
        1 agcgccccct ccgagatccc ggggagccag cttgctggga gagcgggacg gtccggagca
       61 agcccagagg cagaggaggc gacagaggga aaaagggccg agctagccgc tccagtgctg
      121 tacaggagcc gaagggacgc accacgccag ccccagcccg gctccagcga cagccaacgc
      181 ctcttgcagc gcggcggctt cgaagccgcc gcccggagct gccctttcct cttcggtgaa
      241 gtttttaaaa gctgctaaag actcggagga agcaaggaaa gtgcctggta ggactgacgg
      301 ctgcctttgt cctcctcctc tccaccccgc ctccccccac cctgccttcc ccccctcccc
      361 cgtcttctct cccgcagctg cctcagtcgg ctactctcag ccaacccccc tcaccaccct
      421 tctccccacc cgcccccccg cccccgtcgg cccagcgctg ccagcccgag tttgcagaga
      481 ggtaactccc tttggctgcg agcgggcgag ctagctgcac attgcaaaga aggctcttag
      541 gagccaggcg actggggagc ggcttcagca ctgcagccac gacccgcctg gttaggctgc
      601 acgcggagag aaccctctgt tttcccccac tctctctcca cctcctcctg ccttccccac
      661 cccgagtgcg gagccagaga tcaaaagatg aaaaggcagt caggtcttca gtagccaaaa
      721 aacaaaacaa acaaaaacaa aaaagccgaa ataaaagaaa aagataataa ctcagttctt
      781 atttgcacct acttcagtgg acactgaatt tggaaggtgg aggattttgt ttttttcttt
      841 taagatctgg gcatcttttg aatctaccct tcaagtatta agagacagac tgtgagccta
      901 gcagggcaga tcttgtccac cgtgtgtctt cttctgcacg agactttgag gctgtcagag
      961 cgctttttgc gtggttgctc ccgcaagttt ccttctctgg agcttcccgc aggtgggcag
     1021 ctagctgcag cgactaccgc atcatcacag cctgttgaac tcttctgagc aagagaaggg
     1081 gaggcggggt aagggaagta ggtggaagat tcagccaagc tcaaggatgg aagtgcagtt
     1141 agggctggga agggtctacc ctcggccgcc gtccaagacc taccgaggag ctttccagaa
     1201 tctgttccag agcgtgcgcg aagtgatcca gaacccgggc cccaggcacc cagaggccgc
     1261 gagcgcagca cctcccggcg ccagtttgct gctgctgcag cagcagcagc agcagcagca
     1321 gcagcagcag cagcagcagc agcagcagca gcagcagcag cagcaagaga ctagccccag
     1381 gcagcagcag cagcagcagg gtgaggatgg ttctccccaa gcccatcgta gaggccccac
     1441 aggctacctg gtcctggatg aggaacagca accttcacag ccgcagtcgg ccctggagtg
     1501 ccaccccgag agaggttgcg tcccagagcc tggagccgcc gtggccgcca gcaaggggct
     1561 gccgcagcag ctgccagcac ctccggacga ggatgactca gctgccccat ccacgttgtc
     1621 cctgctgggc cccactttcc ccggcttaag cagctgctcc gctgacctta aagacatcct
     1681 gagcgaggcc agcaccatgc aactccttca gcaacagcag caggaagcag tatccgaagg
     1741 cagcagcagc gggagagcga gggaggcctc gggggctccc acttcctcca aggacaatta
     1801 cttagggggc acttcgacca tttctgacaa cgccaaggag ttgtgtaagg cagtgtcggt
     1861 gtccatgggc ctgggtgtgg aggcgttgga gcatctgagt ccaggggaac agcttcgggg
     1921 ggattgcatg tacgccccac ttttgggagt tccacccgct gtgcgtccca ctccttgtgc
     1981 cccattggcc gaatgcaaag gttctctgct agacgacagc gcaggcaaga gcactgaaga
     2041 tactgctgag tattcccctt tcaagggagg ttacaccaaa gggctagaag gcgagagcct
     2101 aggctgctct ggcagcgctg cagcagggag ctccgggaca cttgaactgc cgtctaccct
     2161 gtctctctac aagtccggag cactggacga ggcagctgcg taccagagtc gcgactacta
     2221 caactttcca ctggctctgg ccggaccgcc gccccctccg ccgcctcccc atccccacgc
     2281 tcgcatcaag ctggagaacc cgctggacta cggcagcgcc tgggcggctg cggcggcgca
     2341 gtgccgctat ggggacctgg cgagcctgca tggcgcgggt gcagcgggac ccggttctgg
     2401 gtcaccctca gccgccgctt cctcatcctg gcacactctc ttcacagccg aagaaggcca
     2461 gttgtatgga ccgtgtggtg gtggtggggg tggtggcggc ggcggcggcg gcggcggcgg
     2521 cggcggcggc ggcggcggcg gcggcgaggc gggagctgta gccccctacg gctacactcg
     2581 gccccctcag gggctggcgg gccaggaaag cgacttcacc gcacctgatg tgtggtaccc
     2641 tggcggcatg gtgagcagag tgccctatcc cagtcccact tgtgtcaaaa gcgaaatggg
     2701 cccctggatg gatagctact ccggacctta cggggacatg cgtttggaga ctgccaggga
     2761 ccatgttttg cccattgact attactttcc accccagaag acctgcctga tctgtggaga
     2821 tgaagcttct gggtgtcact atggagctct cacatgtgga agctgcaagg tcttcttcaa
     2881 aagagccgct gaagggaaac agaagtacct gtgcgccagc agaaatgatt gcactattga
     2941 taaattccga aggaaaaatt gtccatcttg tcgtcttcgg aaatgttatg aagcagggat
     3001 gactctggga gcccggaagc tgaagaaact tggtaatctg aaactacagg aggaaggaga
     3061 ggcttccagc accaccagcc ccactgagga gacaacccag aagctgacag tgtcacacat
     3121 tgaaggctat gaatgtcagc ccatctttct gaatgtcctg gaagccattg agccaggtgt
     3181 agtgtgtgct ggacacgaca acaaccagcc cgactccttt gcagccttgc tctctagcct
     3241 caatgaactg ggagagagac agcttgtaca cgtggtcaag tgggccaagg ccttgcctgg
     3301 cttccgcaac ttacacgtgg acgaccagat ggctgtcatt cagtactcct ggatggggct
     3361 catggtgttt gccatgggct ggcgatcctt caccaatgtc aactccagga tgctctactt
     3421 cgcccctgat ctggttttca atgagtaccg catgcacaag tcccggatgt acagccagtg
     3481 tgtccgaatg aggcacctct ctcaagagtt tggatggctc caaatcaccc cccaggaatt
     3541 cctgtgcatg aaagcactgc tactcttcag cattattcca gtggatgggc tgaaaaatca
     3601 aaaattcttt gatgaacttc gaatgaacta catcaaggaa ctcgatcgta tcattgcatg
     3661 caaaagaaaa aatcccacat cctgctcaag acgcttctac cagctcacca agctcctgga
     3721 ctccgtgcag cctattgcga gagagctgca tcagttcact tttgacctgc taatcaagtc
     3781 acacatggtg agcgtggact ttccggaaat gatggcagag atcatctctg tgcaagtgcc
     3841 caagatcctt tctgggaaag tcaagcccat ctatttccac acccagtgaa gcattggaaa
     3901 ccctatttcc ccaccccagc tcatgccccc tttcagatgt cttctgcctg ttataactct
     3961 gcactactcc tctgcagtgc cttggggaat ttcctctatt gatgtacagt ctgtcatgaa
     4021 catgttcctg aattctattt gctgggcttt ttttttctct ttctctcctt tctttttctt
     4081 cttccctccc tatctaaccc tcccatggca ccttcagact ttgcttccca ttgtggctcc
     4141 tatctgtgtt ttgaatggtg ttgtatgcct ttaaatctgt gatgatcctc atatggccca
     4201 gtgtcaagtt gtgcttgttt acagcactac tctgtgccag ccacacaaac gtttacttat
     4261 cttatgccac gggaagttta gagagctaag attatctggg gaaatcaaaa caaaaacaag
     4321 caaacaaaaa aaaaaagcaa aaacaaaaca aaaaataagc caaaaaacct tgctagtgtt
     4381 ttttcctcaa aaataaataa ataaataaat aaatacgtac atacatacac acatacatac
     4441 aaacatatag aaatccccaa agaggccaat agtgacgaga aggtgaaaat tgcaggccca
     4501 tggggagtta ctgatttttt catctcctcc ctccacggga gactttattt tctgccaatg
     4561 gctattgcca ttagagggca gagtgacccc agagctgagt tgggcagggg ggtggacaga
     4621 gaggagagga caaggagggc aatggagcat cagtacctgc ccacagcctt ggtccctggg
     4681 ggctagactg ctcaactgtg gagcaattca ttatactgaa aatgtgcttg ttgttgaaaa
     4741 tttgtctgca tgttaatgcc tcacccccaa acccttttct ctctcactct ctgcctccaa
     4801 cttcagattg actttcaata gtttttctaa gacctttgaa ctgaatgttc tcttcagcca
     4861 aaacttggcg acttccacag aaaagtctga ccactgagaa gaaggagagc agagatttaa
     4921 ccctttgtaa ggccccattt ggatccaggt ctgctttctc atgtgtgagt cagggaggag
     4981 ctggagccag aggagaagaa aatgatagct tggctgttct cctgcttagg acactgactg
     5041 aatagttaaa ctctcactgc cactaccttt tccccacctt taaaagacct gaatgaagtt
     5101 ttctgccaaa ctccgtgaag ccacaagcac cttatgtcct cccttcagtg ttttgtgggc
     5161 ctgaatttca tcacactgca tttcagccat ggtcatcaag cctgtttgct tcttttgggc
     5221 atgttcacag attctctgtt aagagccccc accaccaaga aggttagcag gccaacagct
     5281 ctgacatcta tctgtagatg ccagtagtca caaagatttc ttaccaactc tcagatcgct
     5341 ggagccctta gacaaactgg aaagaaggca tcaaagggat caggcaagct gggcgtcttg
     5401 cccttgtccc ccagagatga taccctccca gcaagtggag aagttctcac ttccttcttt
     5461 agagcagcta aaggggctac ccagatcagg gttgaagaga aaactcaatt accagggtgg
     5521 gaagaatgaa ggcactagaa ccagaaaccc tgcaaatgct cttcttgtca cccagcatat
     5581 ccacctgcag aagtcatgag aagagagaag gaacaaagag gagactctga ctactgaatt
     5641 aaaatcttca gcggcaaagc ctaaagccag atggacacca tctggtgagt ttactcatca
     5701 tcctcctctg ctgctgattc tgggctctga cattgcccat actcactcag attccccacc
     5761 tttgttgctg cctcttagtc agagggaggc caaaccattg agactttcta cagaaccatg
     5821 gcttctttcg gaaaggtctg gttggtgtgg ctccaatact ttgccaccca tgaactcagg
     5881 gtgtgccctg ggacactggt tttatatagt cttttggcac acctgtgttc tgttgacttc
     5941 gttcttcaag cccaagtgca agggaaaatg tccacctact ttctcatctt ggcctctgcc
     6001 tccttactta gctcttaatc tcatctgttg aactcaagaa atcaagggcc agtcatcaag
     6061 ctgcccattt taattgattc actctgtttg ttgagaggat agtttctgag tgacatgata
     6121 tgatccacaa gggtttcctt ccctgatttc tgcattgata ttaatagcca aacgaacttc
     6181 aaaacagctt taaataacaa gggagagggg aacctaagat gagtaatatg ccaatccaag
     6241 actgctggag aaaactaaag ctgacaggtt ccctttttgg ggtgggatag acatgttctg
     6301 gttttcttta ttattacaca atctggctca tgtacaggat cacttttagc tgttttaaac
     6361 agaaaaaaat atccaccact cttttcagtt acactaggtt acattttaat aggtccttta
     6421 catctgtttt ggaatgattt tcatcttttg tgatacacag attgaattat atcattttca
     6481 tatctctcct tgtaaatact agaagctctc ctttacattt ctctatcaaa tttttcatct
     6541 ttatgggttt cccaattgtg actcttgtct tcatgaatat atgtttttca tttgcaaaag
     6601 ccaaaaatca gtgaaacagc agtgtaatta aaagcaacaa ctggattact ccaaatttcc
     6661 aaatgacaaa actagggaaa aatagcctac acaagccttt aggcctactc tttctgtgct
     6721 tgggtttgag tgaacaaagg agattttagc ttggctctgt tctcccatgg atgaaaggag
     6781 gaggattttt tttttctttt ggccattgat gttctagcca atgtaattga cagaagtctc
     6841 attttgcatg cgctctgctc tacaaacaga gttggtatgg ttggtatact gtactcacct
     6901 gtgagggact ggccactcag acccacttag ctggtgagct agaagatgag gatcactcac
     6961 tggaaaagtc acaaggacca tctccaaaca agttggcagt gctcgatgtg gacgaagagt
     7021 gaggaagaga aaaagaagga gcaccaggga gaaggctccg tctgtgctgg gcagcagaca
     7081 gctgccagga tcacgaactc tgtagtcaaa gaaaagagtc gtgtggcagt ttcagctctc
     7141 gttcattggg cagctcgcct aggcccagcc tctgagctga catgggagtt gttggattct
     7201 ttgtttcata gctttttcta tgccataggc aatattgttg ttcttggaaa gtttattatt
     7261 tttttaactc ccttactctg agaaagggat attttgaagg actgtcatat atctttgaaa
     7321 aaagaaaatc tgtaatacat atatttttat gtatgttcac tggcactaaa aaatatagag
     7381 agcttcattc tgtcctttgg gtagttgctg aggtaattgt ccaggttgaa aaataatgtg
     7441 ctgatgctag agtccctctc tgtccatact ctacttctaa atacatatag gcatacatag
     7501 caagttttat ttgacttgta ctttaagaga aaatatgtcc accatccaca tgatgcacaa
     7561 atgagctaac attgagcttc aagtagcttc taagtgtttg tttcattagg cacagcacag
     7621 atgtggcctt tccccccttc tctcccttga tatctggcag ggcataaagg cccaggccac
     7681 ttcctctgcc ccttcccagc cctgcaccaa agctgcattt caggagactc tctccagaca
     7741 gcccagtaac tacccgagca tggcccctgc atagccctgg aaaaataaga ggctgactgt
     7801 ctacgaatta tcttgtgcca gttgcccagg tgagagggca ctgggccaag ggagtggttt
     7861 tcatgtttga cccactacaa ggggtcatgg gaatcaggaa tgccaaagca ccagatcaaa
     7921 tccaaaactt aaagtcaaaa taagccattc agcatgttca gtttcttgga aaaggaagtt
     7981 tctacccctg atgcctttgt aggcagatct gttctcacca ttaatctttt tgaaaatctt
     8041 ttaaagcagt ttttaaaaag agagatgaaa gcatcacatt atataaccaa agattacatt
     8101 gtacctgcta agataccaaa attcataagg gcaggggggg agcaagcatt agtgcctctt
     8161 tgataagctg tccaaagaca gactaaagga ctctgctggt gactgactta taagagcttt
     8221 gtgggttttt ttttccctaa taatatacat gtttagaaga attgaaaata atttcgggaa
     8281 aatgggatta tgggtccttc actaagtgat tttataagca gaactggctt tccttttctc
     8341 tagtagttgc tgagcaaatt gttgaagctc catcattgca tggttggaaa tggagctgtt
     8401 cttagccact gtgtttgcta gtgcccatgt tagcttatct gaagatgtga aacccttgct
     8461 gataagggag catttaaagt actagatttt gcactagagg gacagcaggc agaaatcctt
     8521 atttctgccc actttggatg gcacaaaaag ttatctgcag ttgaaggcag aaagttgaaa
     8581 tacattgtaa atgaatattt gtatccatgt ttcaaaattg aaatatatat atatatatat
     8641 atatatatat atatatatat atagtgtgtg tgtgtgttct gatagcttta actttctctg
     8701 catctttata tttggttcca gatcacacct gatgccatgt acttgtgaga gaggatgcag
     8761 ttttgttttg gaagctctct cagaacaaac aagacacctg gattgatcag ttaactaaaa
     8821 gttttctccc ctattgggtt tgacccacag gtcctgtgaa ggagcagagg gataaaaaga
     8881 gtagaggaca tgatacattg tactttacta gttcaagaca gatgaatgtg gaaagcataa
     8941 aaactcaatg gaactgactg agatttacca cagggaaggc ccaaacttgg ggccaaaagc
     9001 ctacccaagt gattgaccag tggcccccta atgggacctg agctgttgga agaagagaac
     9061 tgttccttgg tcttcaccat ccttgtgaga gaagggcagt ttcctgcatt ggaacctgga
     9121 gcaagcgctc tatctttcac acaaattccc tcacctgaga ttgaggtgct cttgttactg
     9181 ggtgtctgtg tgctgtaatt ctggttttgg atatgttctg taaagatttt gacaaatgaa
     9241 aatgtgtttt tctctgttaa aacttgtcag agtactagaa gttgtatctc tgtaggtgca
     9301 ggtccatttc tgcccacagg tagggtgttt ttctttgatt aagagattga cacttctgtt
     9361 gcctaggacc tcccaactca accatttcta ggtgaaggca gaaaaatcca cattagttac
     9421 tcctcttcag acatttcagc tgagataaca aatcttttgg aattttttca cccatagaaa
     9481 gagtggtaga tatttgaatt tagcaggtgg agtttcatag taaaaacagc ttttgactca
     9541 gctttgattt atcctcattt gatttggcca gaaagtaggt aatatgcatt gattggcttc
     9601 tgattccaat tcagtatagc aaggtgctag gttttttcct ttccccacct gtctcttagc
     9661 ctggggaatt aaatgagaag ccttagaatg ggtggccctt gtgacctgaa acacttccca
     9721 cataagctac ttaacaagat tgtcatggag ctgcagattc cattgcccac caaagactag
     9781 aacacacaca tatccataca ccaaaggaaa gacaattctg aaatgctgtt tctctggtgg
     9841 ttccctctct ggctgctgcc tcacagtatg ggaacctgta ctctgcagag gtgacaggcc
     9901 agatttgcat tatctcacaa ccttagccct tggtgctaac tgtcctacag tgaagtgcct
     9961 ggggggttgt cctatcccat aagccacttg gatgctgaca gcagccacca tcagaatgac
    10021 ccacgcaaaa aaaagaaaaa aaaaattaaa aagtcccctc acaacccagt gacacctttc
    10081 tgctttcctc tagactggaa cattgattag ggagtgcctc agacatgaca ttcttgtgct
    10141 gtccttggaa ttaatctggc agcaggaggg agcagactat gtaaacagag ataaaaatta
    10201 attttcaata ttgaaggaaa aaagaaataa gaagagagag agaaagaaag catcacacaa
    10261 agattttctt aaaagaaaca attttgcttg aaatctcttt agatggggct catttctcac
    10321 ggtggcactt ggcctccact gggcagcagg accagctcca agcgctagtg ttctgttctc
    10381 tttttgtaat cttggaatct tttgttgctc taaatacaat taaaaatggc agaaacttgt
    10441 ttgttggact acatgtgtga ctttgggtct gtctctgcct ctgctttcag aaatgtcatc
    10501 cattgtgtaa aatattggct tactggtctg ccagctaaaa cttggccaca tcccctgtta
    10561 tggctgcagg atcgagttat tgttaacaaa gagacccaag aaaagctgct aatgtcctct
    10621 tatcattgtt gttaatttgt taaaacataa agaaatctaa aatttca
//
LOCUS       NM_000045               1447 bp    mRNA    linear   PRI 27-JUN-2023
DEFINITION  Homo sapiens arginase 1 (ARG1), transcript variant 2, mRNA.
ACCESSION   NM_000045
VERSION     NM_000045.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1447)
  AUTHORS   Bonometti A, Borsani O, Rumi E, Ferretti VV, Dioli C, Lucato E,
            Paulli M and Boveri E.
  TITLE     Arginase-1+ bone marrow myeloid cells are reduced in
            myeloproliferative neoplasms and correlate with clinical phenotype,
            fibrosis, and molecular driver
  JOURNAL   Cancer Med 12 (7), 7815-7822 (2023)
   PUBMED   36524315
  REMARK    GeneRIF: Arginase-1+ bone marrow myeloid cells are reduced in
            myeloproliferative neoplasms and correlate with clinical phenotype,
            fibrosis, and molecular driver.
REFERENCE   2  (bases 1 to 1447)
  AUTHORS   Menjivar RE, Nwosu ZC, Du W, Donahue KL, Hong HS, Espinoza C, Brown
            K, Velez-Delgado A, Yan W, Lima F, Bischoff A, Kadiyala P,
            Salas-Escabillas D, Crawford HC, Bednar F, Carpenter E, Zhang Y,
            Halbrook CJ, Lyssiotis CA and Pasca di Magliano M.
  TITLE     Arginase 1 is a key driver of immune suppression in pancreatic
            cancer
  JOURNAL   Elife 12, e80721 (2023)
   PUBMED   36727849
  REMARK    GeneRIF: Arginase 1 is a key driver of immune suppression in
            pancreatic cancer. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1447)
  AUTHORS   Zhang H, Zhu X, Friesen TJ, Kwak JW, Pisarenko T, Mekvanich S,
            Velasco MA, Randolph TW, Kargl J and Houghton AM.
  TITLE     Annexin A2/TLR2/MYD88 pathway induces arginase 1 expression in
            tumor-associated neutrophils
  JOURNAL   J Clin Invest 132 (22), e153643 (2022)
   PUBMED   36377658
  REMARK    GeneRIF: Annexin A2/TLR2/MYD88 pathway induces arginase 1 expression
            in tumor-associated neutrophils. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1447)
  AUTHORS   Tyrinova TV, Batorov EV, Aristova TA, Ushakova GY, Sizikova SA,
            Denisova VV, Ostanin AA and Chernykh ER.
  TITLE     Expression of Inhibitory Molecules (Arginase-1, IDO, and PD-L1) by
            Myeloid-Derived Suppressor Cells in Multiple Myeloma Patients in
            Remission
  JOURNAL   Bull Exp Biol Med 174 (1), 71-75 (2022)
   PUBMED   36437327
  REMARK    GeneRIF: Expression of Inhibitory Molecules (Arginase-1, IDO, and
            PD-L1) by Myeloid-Derived Suppressor Cells in Multiple Myeloma
            Patients in Remission.
REFERENCE   5  (bases 1 to 1447)
  AUTHORS   Ah Mew,N., Simpson,K.L., Gropman,A.L., Lanpher,B.C., Chapman,K.A.
            and Summar,M.L.
  TITLE     Urea Cycle Disorders Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301396
REFERENCE   6  (bases 1 to 1447)
  AUTHORS   Sun,A., Crombez,E.A. and Wong,D.
  TITLE     Arginase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301338
REFERENCE   7  (bases 1 to 1447)
  AUTHORS   Uchino T, Haraguchi Y, Aparicio JM, Mizutani N, Higashikawa M,
            Naitoh H, Mori M and Matsuda I.
  TITLE     Three novel mutations in the liver-type arginase gene in three
            unrelated Japanese patients with argininemia
  JOURNAL   Am J Hum Genet 51 (6), 1406-1412 (1992)
   PUBMED   1463019
REFERENCE   8  (bases 1 to 1447)
  AUTHORS   Grody WW, Klein D, Dodson AE, Kern RM, Wissmann PB, Goodman BK,
            Bassand P, Marescau B, Kang SS, Leonard JV et al.
  TITLE     Molecular genetic study of human arginase deficiency
  JOURNAL   Am J Hum Genet 50 (6), 1281-1290 (1992)
   PUBMED   1598908
REFERENCE   9  (bases 1 to 1447)
  AUTHORS   Ikemoto M, Tabata M, Miyake T, Kono T, Mori M, Totani M and Murachi
            T.
  TITLE     Expression of human liver arginase in Escherichia coli. Purification
            and properties of the product
  JOURNAL   Biochem J 270 (3), 697-703 (1990)
   PUBMED   2241902
REFERENCE   10  (bases 1 to 1447)
  AUTHORS   Haraguchi Y, Aparicio JM, Takiguchi M, Akaboshi I, Yoshino M, Mori M
            and Matsuda I.
  TITLE     Molecular basis of argininemia. Identification of two discrete
            frame-shift deletions in the liver-type arginase gene
  JOURNAL   J Clin Invest 86 (1), 347-350 (1990)
   PUBMED   2365823
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.66609.1,
            SRR5189664.105174.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145122,
            SAMEA2145893 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368087.8/ ENSP00000357066.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG542163.1 and BC020653.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000045.3.
            Summary: Arginase catalyzes the hydrolysis of arginine to ornithine
            and urea. At least two isoforms of mammalian arginase exist (types
            I and II) which differ in their tissue distribution, subcellular
            localization, immunologic crossreactivity and physiologic function.
            The type I isoform encoded by this gene, is a cytosolic enzyme and
            expressed predominantly in the liver as a component of the urea
            cycle. Inherited deficiency of this enzyme results in argininemia,
            an autosomal recessive disorder characterized by hyperammonemia.
            Two transcript variants encoding different isoforms have been found
            for this gene. [provided by RefSeq, Sep 2011].
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site at the 5' end of an exon compared to variant 1. The
            resulting isoform (2) has the same N- and C-termini but is shorter
            compared to isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1447
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.2"
     gene            1..1447
                     /gene="ARG1"
                     /note="arginase 1"
                     /db_xref="GeneID:383"
                     /db_xref="HGNC:HGNC:663"
                     /db_xref="MIM:608313"
     misc_feature    13..15
                     /gene="ARG1"
                     /note="upstream in-frame stop codon"
     CDS             58..1026
                     /gene="ARG1"
                     /EC_number="3.5.3.1"
                     /note="isoform 2 is encoded by transcript variant 2; type I
                     arginase; liver-type arginase; arginase, liver"
                     /codon_start=1
                     /product="arginase-1 isoform 2"
                     /protein_id="NP_000036.2"
                     /db_xref="CCDS:CCDS5145.1"
                     /db_xref="GeneID:383"
                     /db_xref="HGNC:HGNC:663"
                     /db_xref="MIM:608313"
                     /translation="MSAKSRTIGIIGAPFSKGQPRGGVEEGPTVLRKAGLLEKLKEQEC
                     DVKDYGDLPFADIPNDSPFQIVKNPRSVGKASEQLAGKVAEVKKNGRISLVLGGDHSLA
                     IGSISGHARVHPDLGVIWVDAHTDINTPLTTTSGNLHGQPVSFLLKELKGKIPDVPGFS
                     WVTPCISAKDIVYIGLRDVDPGEHYILKTLGIKYFSMTEVDRLGIGKVMEETLSYLLGR
                     KKRPIHLSFDVDGLDPSFTPATGTPVVGGLTYREGLYITEEIYKTGLLSGLDIMEVNPS
                     LGKTPEEVTRTVNTAVAITLACFGLAREGNHKPIDYLNPPK"
     misc_feature    241..243
                     /gene="ARG1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05089.2); phosphorylation site"
     misc_feature    271..273
                     /gene="ARG1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61176; propagated from
                     UniProtKB/Swiss-Prot (P05089.2); phosphorylation site"
     misc_feature    544..546
                     /gene="ARG1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05089.2); phosphorylation site"
     misc_feature    706..708
                     /gene="ARG1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05089.2); phosphorylation site"
     regulatory      1427..1432
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARG1"
                     /note="hexamer: AATAAA"
     polyA_site      1447
                     /gene="ARG1"
                     /note="major polyA site"
ORIGIN
        1 gtcactgagg gttgactgac tggagagctc aagtgcagca aagagaagtg tcagagcatg
       61 agcgccaagt ccagaaccat agggattatt ggagctcctt tctcaaaggg acagccacga
      121 ggaggggtgg aagaaggccc tacagtattg agaaaggctg gtctgcttga gaaacttaaa
      181 gaacaagagt gtgatgtgaa ggattatggg gacctgccct ttgctgacat ccctaatgac
      241 agtccctttc aaattgtgaa gaatccaagg tctgtgggaa aagcaagcga gcagctggct
      301 ggcaaggtgg cagaagtcaa gaagaacgga agaatcagcc tggtgctggg cggagaccac
      361 agtttggcaa ttggaagcat ctctggccat gccagggtcc accctgatct tggagtcatc
      421 tgggtggatg ctcacactga tatcaacact ccactgacaa ccacaagtgg aaacttgcat
      481 ggacaacctg tatctttcct cctgaaggaa ctaaaaggaa agattcccga tgtgccagga
      541 ttctcctggg tgactccctg tatatctgcc aaggatattg tgtatattgg cttgagagac
      601 gtggaccctg gggaacacta cattttgaaa actctaggca ttaaatactt ttcaatgact
      661 gaagtggaca gactaggaat tggcaaggtg atggaagaaa cactcagcta tctactagga
      721 agaaagaaaa ggccaattca tctaagtttt gatgttgacg gactggaccc atctttcaca
      781 ccagctactg gcacaccagt cgtgggaggt ctgacataca gagaaggtct ctacatcaca
      841 gaagaaatct acaaaacagg gctactctca ggattagata taatggaagt gaacccatcc
      901 ctggggaaga caccagaaga agtaactcga acagtgaaca cagcagttgc aataaccttg
      961 gcttgtttcg gacttgctcg ggagggtaat cacaagccta ttgactacct taacccacct
     1021 aagtaaatgt ggaaacatcc gatataaatc tcatagttaa tggcataatt agaaagctaa
     1081 tcattttctt aagcatagag ttatccttct aaagacttgt tctttcagaa aaatgttttt
     1141 ccaattagta taaactctac aaattccctc ttggtgtaaa attcaagatg tggaaattct
     1201 aacttttttg aaatttaaaa gcttatattt tctaacttgg caaaagactt atccttagaa
     1261 agagaagtgt acattgattt ccaattaaaa atttgctggc attaaaaata agcacactta
     1321 cataagcccc catacataga gtgggactct tggaatcagg agacaaagct accacatgtg
     1381 gaaaggtact atgtgtccat gtcattcaaa aaatgtgatt ttttataata aactctttat
     1441 aacaaga
//
LOCUS       NM_000046               4852 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens arylsulfatase B (ARSB), transcript variant 1, mRNA.
ACCESSION   NM_000046
VERSION     NM_000046.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4852)
  AUTHORS   Tobacman JK and Bhattacharyya S.
  TITLE     Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase
            (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases
  JOURNAL   Int J Mol Sci 23 (21), 13146 (2022)
   PUBMED   36361933
  REMARK    GeneRIF: Profound Impact of Decline in
            N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular
            Pathophysiology and Human Diseases. Review article Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 4852)
  AUTHORS   D'Avanzo F, Zanetti A, De Filippis C and Tomanin R.
  TITLE     Mucopolysaccharidosis Type VI, an Updated Overview of the Disease
  JOURNAL   Int J Mol Sci 22 (24), 13456 (2021)
   PUBMED   34948256
  REMARK    GeneRIF: Mucopolysaccharidosis Type VI, an Updated Overview of the
            Disease. Review article Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4852)
  AUTHORS   Marek-Yagel D, Eliyahu A, Veber A, Shalva N, Philosoph AM, Barel O,
            Javasky E, Pode-Shakked B, Loewenthal N, Anikster Y and
            Staretz-Chacham O.
  TITLE     Deep intronic variant in the ARSB gene as the genetic cause for
            Maroteaux-Lamy syndrome (MPS VI)
  JOURNAL   Am J Med Genet A 185 (12), 3804-3809 (2021)
   PUBMED   34435740
  REMARK    GeneRIF: Deep intronic variant in the ARSB gene as the genetic cause
            for Maroteaux-Lamy syndrome (MPS VI).
REFERENCE   4  (bases 1 to 4852)
  AUTHORS   He MF, Yang J, Dong MJ, Wang YT and Liu H.
  TITLE     Compound heterozygous missense mutations in a Chinese
            mucopolysaccharidosis type VI patient: a case report
  JOURNAL   BMC Ophthalmol 21 (1), 214 (2021)
   PUBMED   33985463
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4852)
  AUTHORS   Poterala-Hejmo A, Golda A, Pacholczyk M, Student S, Tylki-Szymanska
            A and Lalik A.
  TITLE     A Possible Role for Arylsulfatase G in Dermatan Sulfate Metabolism
  JOURNAL   Int J Mol Sci 21 (14), 4913 (2020)
   PUBMED   32664626
  REMARK    GeneRIF: A Possible Role for Arylsulfatase G in Dermatan Sulfate
            Metabolism. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4852)
  AUTHORS   Kobayashi T, Honke K, Jin T, Gasa S, Miyazaki T and Makita A.
  TITLE     Components and proteolytic processing sites of arylsulfatase B from
            human placenta
  JOURNAL   Biochim Biophys Acta 1159 (3), 243-247 (1992)
   PUBMED   1390929
REFERENCE   7  (bases 1 to 4852)
  AUTHORS   Jin WD, Jackson CE, Desnick RJ and Schuchman EH.
  TITLE     Mucopolysaccharidosis type VI: identification of three mutations in
            the arylsulfatase B gene of patients with the severe and mild
            phenotypes provides molecular evidence for genetic heterogeneity
  JOURNAL   Am J Hum Genet 50 (4), 795-800 (1992)
   PUBMED   1550123
REFERENCE   8  (bases 1 to 4852)
  AUTHORS   Litjens T, Morris CP, Robertson EF, Peters C, von Figura K and
            Hopwood JJ.
  TITLE     An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results
            in a severe Maroteaux-Lamy phenotype
  JOURNAL   Hum Mutat 1 (5), 397-402 (1992)
   PUBMED   1301949
REFERENCE   9  (bases 1 to 4852)
  AUTHORS   Wicker G, Prill V, Brooks D, Gibson G, Hopwood J, von Figura K and
            Peters C.
  TITLE     Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate
            clinical phenotype caused by substitution of valine for glycine at
            position 137 of arylsulfatase B
  JOURNAL   J Biol Chem 266 (32), 21386-21391 (1991)
   PUBMED   1718978
REFERENCE   10  (bases 1 to 4852)
  AUTHORS   Litjens T, Morris CP, Gibson GJ, Beckmann KR and Hopwood JJ.
  TITLE     Human N-acetylgalactosamine-4-sulphatase: protein maturation and
            isolation of genomic clones
  JOURNAL   Biochem Int 24 (2), 209-215 (1991)
   PUBMED   1930244
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.209764.1,
            SRR1803613.195264.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000264914.10/ ENSP00000264914.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M32373.1, AC114963.2 and
            AC025755.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000046.4.
            Summary: Arylsulfatase B encoded by this gene belongs to the
            sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate
            groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and
            dermatan sulfate. The protein is targeted to the lysozyme.
            Mucopolysaccharidosis type VI is an autosomal recessive lysosomal
            storage disorder resulting from a deficiency of arylsulfatase B.
            Two alternatively spliced transcript variants encoding distinct
            isoforms have been found for this gene. [provided by RefSeq, Dec
            2016].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4852
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     gene            1..4852
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /note="arylsulfatase B"
                     /db_xref="GeneID:411"
                     /db_xref="HGNC:HGNC:714"
                     /db_xref="MIM:611542"
     CDS             63..1664
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /EC_number="3.1.6.12"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; N-acetylgalactosamine-4-sulfatase"
                     /codon_start=1
                     /product="arylsulfatase B isoform 1 precursor"
                     /protein_id="NP_000037.2"
                     /db_xref="CCDS:CCDS4043.1"
                     /db_xref="GeneID:411"
                     /db_xref="HGNC:HGNC:714"
                     /db_xref="MIM:611542"
                     /translation="MGPRGAASLPRGPGPRRLLLPVVLPLLLLLLLAPPGSGAGASRPP
                     HLVFLLADDLGWNDVGFHGSRIRTPHLDALAAGGVLLDNYYTQPLCTPSRSQLLTGRYQ
                     IRTGLQHQIIWPCQPSCVPLDEKLLPQLLKEAGYTTHMVGKWHLGMYRKECLPTRRGFD
                     TYFGYLLGSEDYYSHERCTLIDALNVTRCALDFRDGEEVATGYKNMYSTNIFTKRAIAL
                     ITNHPPEKPLFLYLALQSVHEPLQVPEEYLKPYDFIQDKNRHHYAGMVSLMDEAVGNVT
                     AALKSSGLWNNTVFIFSTDNGGQTLAGGNNWPLRGRKWSLWEGGVRGVGFVASPLLKQK
                     GVKNRELIHISDWLPTLVKLARGHTNGTKPLDGFDVWKTISEGSPSPRIELLHNIDPNF
                     VDSSPCPRNSMAPAKDDSSLPEYSAFNTSVHAAIRHGNWKLLTGYPGCGYWFPPPSQYN
                     VSEIPSSDPPTKTLWLFDIDRDPEERHDLSREYPHIVTKLLSRLQFYHKHSVPVYFPAQ
                     DPRCDPKATGVWGPWM"
     sig_peptide     63..170
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /note="Or 38. /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P15848.1)"
     mat_peptide     171..1661
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /product="Arylsulfatase B. /id=PRO_0000033421"
                     /note="propagated from UniProtKB/Swiss-Prot (P15848.1)"
     misc_feature    624..626
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P15848.1); glycosylation site"
     misc_feature    897..899
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P15848.1); glycosylation site"
     misc_feature    933..935
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P15848.1); glycosylation site"
     misc_feature    1158..1160
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P15848.1); glycosylation site"
     misc_feature    1338..1340
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P15848.1); glycosylation site"
     misc_feature    1434..1436
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P15848.1); glycosylation site"
     regulatory      4828..4833
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /note="hexamer: AGTAAA"
     polyA_site      4852
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /note="major polyA site"
ORIGIN
        1 attctatcag cggtacaagg ggctggtggc gccacaggcg ctgggaccgc gggcggacaa
       61 ggatgggtcc gcgcggcgcg gcgagcttgc cccgaggccc cggacctcgg cggctgctcc
      121 tccccgtcgt cctcccgctg ctgctgctgc tgttgttggc gccgccgggc tcgggcgccg
      181 gggccagccg gccgccccac ctggtcttct tgctggcaga cgacctaggc tggaacgacg
      241 tcggcttcca cggctcccgc atccgcacgc cgcacctgga cgcgctggcg gccggcgggg
      301 tgctcctgga caactactac acgcagccgc tgtgcacgcc gtcgcggagc cagctgctca
      361 ctggccgcta ccagatccgt acaggtttac agcaccaaat aatctggccc tgtcagccca
      421 gctgtgttcc tctggatgaa aaactcctgc cccagctcct aaaagaagca ggttatacta
      481 cccatatggt cggaaaatgg cacctgggaa tgtaccggaa agaatgcctt ccaacccgcc
      541 gaggatttga tacctacttt ggatatctcc tgggtagtga agattattat tcccatgaac
      601 gctgtacatt aattgacgct ctgaatgtca cacgatgtgc tcttgatttt cgagatggcg
      661 aagaagttgc aacaggatat aaaaatatgt attcaacaaa catattcacc aaaagggcta
      721 tagccctcat aactaaccat ccaccagaga agcctctgtt tctctacctt gctctccagt
      781 ctgtgcatga gccccttcag gtccctgagg aatacttgaa gccatatgac tttatccaag
      841 acaagaacag gcatcactat gcaggaatgg tgtcccttat ggatgaagca gtaggaaatg
      901 tcactgcagc tttaaaaagc agtgggctct ggaacaacac ggtgttcatc ttttctacag
      961 ataacggagg gcagactttg gcagggggta ataactggcc ccttcgagga agaaaatgga
     1021 gcctgtggga aggaggcgtc cgaggggtgg gctttgtggc aagccccttg ctgaagcaga
     1081 agggcgtgaa gaaccgggag ctcatccaca tctctgactg gctgccaaca ctcgtgaagc
     1141 tggccagggg acacaccaat ggcacaaagc ctctggatgg cttcgacgtg tggaaaacca
     1201 tcagtgaagg aagcccatcc cccagaattg agctgctgca taatattgac ccgaacttcg
     1261 tggactcttc accgtgtccc aggaacagca tggctccagc aaaggatgac tcttctcttc
     1321 cagaatattc agcctttaac acatctgtcc atgctgcaat tagacatgga aattggaaac
     1381 tcctcacggg ctacccaggc tgtggttact ggttccctcc accgtctcaa tacaatgttt
     1441 ctgagatacc ctcatcagac ccaccaacca agaccctctg gctctttgat attgatcggg
     1501 accctgaaga aagacatgac ctgtccagag aatatcctca catcgtcaca aagctcctgt
     1561 cccgcctaca gttctaccat aaacactcag tccccgtgta cttccctgca caggaccccc
     1621 gctgtgatcc caaggccact ggggtgtggg gcccttggat gtaggatttc agggaggcta
     1681 gaaaaccttt caattggaag ttggacctca ggccttttct cacgactctt gtctcatttg
     1741 ttatcccaac ctgggttcac ttggcccttc tcttgctctt aaaccacacc gaggtgtcta
     1801 atttcaaccc ctaatgcatt taagaagctg ataaaatctg caacactcct gctgttggct
     1861 ggagcatgtg tctagaggtg ggggtggctg ggtttatccc cctttcctaa gccttgggac
     1921 agctgggaac ttaacttgaa ataggaagtt ctcactgaat cctggaggct ggaacagctg
     1981 gctcttttag actcacaagt cagacgttcg attcccctct gccaatagcc agttttattg
     2041 gagtgaatca catttcttac gcaaatgaag ggagcagaca gtgattaatg gttctgttgg
     2101 ccaaggcttc tccctgtcgg tgaaggatca tgttcaggca ctccaagtga accacccctc
     2161 ttggttcacc ccttactcac ttatctcatc acagagcata aggcccattt tgttgttcag
     2221 gtcaacagca aaatgcctgc accatgactg tggcttttaa aataaagaaa tgtgttttta
     2281 tcgtaattta tttcccccca gccattgctc actctgtcta gacttcctgc cacttccaat
     2341 tcttctgtgg cttttcctgc ctttcctttt gacctcagta gtcctatccc tgggaaggcc
     2401 actttgcttc tctacctgag cacccctgat ttctggaacg ctgctgagcc ctgccttact
     2461 tttgccccta gggctgaagc tagaggcctc cccgtaatag gcggtggagt tgctctgtga
     2521 ggatgttcat ggtagacact aagagggctg ggtgggagat gcttggctct gtggcatctg
     2581 ttcagcgagg cttttcctat attgcatgga gttagtcatt gtgattgtag ctttatttca
     2641 taatatatta agacttgcac tgctatttac tagcagtgag aagaaacctc aggaaaggat
     2701 atgaaaaagc aagtggccag tgtctgggat actgggcctt ggtaaagcag aggagggcac
     2761 acccacagtc ctcttattct ctgttttact gcttgttttg aggttctggg gtctggcaaa
     2821 gaggatgcag tttgacacct gcagcccttt ctcaatccca ctaatgtctt actaatgtgg
     2881 aacagtccat attagctcca gagagtgtca aacccagaga aatgtgtgca aaaatgatac
     2941 tcttttctgc attagcccca ccattgtgtt caccaatgct tggaacactg cctgaaggca
     3001 ctcatttttt aatttttatt ttatttttaa ttttttatat ctttatgaga cgatctcact
     3061 ctgtcaccag gttggagtac agtggtacaa tcacaactca ccgtagcctc aaactcctgg
     3121 gctcaagtga ttctcccacc tcaggcaccc aaatagctgg aactacaggc atataccgcc
     3181 acacccagct aattttattt tttgaaaaga caaggttccc tatgttgccc agctggtctt
     3241 aaactcctgg gctccagcaa ttatcccagc ttgggctcca aaagtgctgg gattacaggc
     3301 atgagtcacc atgcctggcc tcatttttta aaacaaatga ataaatggac aaatgagtaa
     3361 atgagaaagt ctcacaccat gaaagatgct agtccaatga gctgaataca gaggtaatat
     3421 aaatgtcttc cagctgttgc ttttctgttc tcaagctgcc cctcctgggg taggagcata
     3481 atctacatca ctgggcagtc acaggacact ctatagcaag gttgtagcgt cctctccagt
     3541 ggggggagaa aaggaactgt gcctaccaaa ggtactctct tgtcagcaat ttccatttct
     3601 atactttatg ggacactaga aactaaaagc aacaaataat ctgatataag tccttgtata
     3661 gtcatccttc aattcagtag caatattttc tggtcactac taacctgtat tgtattaaaa
     3721 tgagactatt ggaaggaaat ggtgctaaaa ctaataacat ctcttaccaa cctttaccca
     3781 actcctgggt tggcaaacag ctgaccaaac tgccatcacc tcccacttgg aagtgtatgg
     3841 ccgacagcat gaaatagctg agcccagatg ttccttctgc atcctccgaa tcccagggct
     3901 gggtgtaggt agccgttgga ggccatcgct acagggcacc tatctgttat cgctgctgtc
     3961 ctcccaacag ctgtctccag ttctagttcc ttggttttca ggcacagtgg gggatgttct
     4021 gcacccagtg gacttcaaaa gagttttgaa gacttaattt tttgtaaaac aagtacttga
     4081 gattttggtt tatccataat agaatgtatt tcattagatt ctctgattct atataagaat
     4141 gtgaaaagat tgatatattg ttgttagaaa taatgttatt tctttccaat tttttttttt
     4201 tttttttttg agatggagtc tcgctctgtc acccaggctg gagtgcagtg gtgtgatctc
     4261 ggctcactgc agcctctaac tcccaggttc aagctattct cctgcctcag cctcccaagt
     4321 agctggatta caggcataca ccaccacgcc tggctatgtt ttgtattttt cgtagagata
     4381 gggtttcacc atgttggcca ggctggtctc aaactcctga cctcaagtga tccacccact
     4441 tcagcttccc aaagcactgg gattacaggt gtgagccact gtgcccggca aattttttta
     4501 cctttacaga aggttttgct tatttaattg tgagctcatt tttctttgtt acttttgtcc
     4561 ccccagattt gggggacaaa ataaaattaa tcttttaaaa tgtgtcagcc atatgtatgg
     4621 ggcttccatt tggggtgagg agaaagttct ggaactagat agtggtcatg gttatacaac
     4681 atcataaatg caattactgc cactgaattg tatgttttaa agtggttaaa atgttaagtt
     4741 ttatgtttta ttacaatttt taaatgtgtc aaccaacttt atagtacata aattatatct
     4801 cagtaaagct gttaaataaa taaatatagt aaaaatttta gaactaaaaa aa
//
LOCUS       NM_000047               2219 bp    mRNA    linear   PRI 16-MAR-2023
DEFINITION  Homo sapiens arylsulfatase L (ARSL), transcript variant 2, mRNA.
ACCESSION   NM_000047
VERSION     NM_000047.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2219)
  AUTHORS   Capron C, Januel L, Vieville G, Jaillard S, Kuentz P, Salaun G,
            Nadeau G, Clement P, Brechard MP, Herve B, Dupont JM, Gruchy N,
            Chambon P, Abdelhedi F, Dahlen E, Vago P, Harbuz R, Plotton I,
            Coutton C, Belaud-Rotureau MA, Schluth-Bolard C and Vialard F.
  TITLE     Evidence for high breakpoint variability in 46, XX, SRY-positive
            testicular disorder and frequent ARSE deletion that may be
            associated with short stature
  JOURNAL   Andrology 10 (8), 1625-1631 (2022)
   PUBMED   36026611
  REMARK    GeneRIF: Evidence for high breakpoint variability in 46, XX,
            SRY-positive testicular disorder and frequent ARSE deletion that may
            be associated with short stature.
REFERENCE   2  (bases 1 to 2219)
  AUTHORS   Correa SC, Rocha MN, Richeti F, Kochi C, Silva E Lima LA, Magalhaes
            M and Longui CA.
  TITLE     Neonatal detection of Turner syndrome by real-time PCR gene
            quantification of the ARSE and MAGEH1 genes
  JOURNAL   Genet Mol Res 13 (4), 9068-9076 (2014)
   PUBMED   25366798
  REMARK    GeneRIF: Data indicate that the neonatal detection test sensitivity
            obtained was 95% with a positive predictive value of 1 in the
            analyses for both the arylsulfatase E (ARSE) and melanoma antigen
            family H1 (MAGEH1) genes. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2219)
  AUTHORS   Jeon GW, Kwon MJ, Lee SJ, Sin JB and Ki CS.
  TITLE     Clinical and genetic analysis of a Korean patient with X-linked
            chondrodysplasia punctata: identification of a novel splicing
            mutation in the ARSE gene
  JOURNAL   Ann Clin Lab Sci 43 (1), 70-75 (2013)
   PUBMED   23462608
REFERENCE   4  (bases 1 to 2219)
  AUTHORS   Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S and
            Braverman N.
  TITLE     A prospective study of brachytelephalangic chondrodysplasia
            punctata: identification of arylsulfatase E mutations, functional
            analysis of novel missense alleles, and determination of potential
            phenocopies
  JOURNAL   Genet Med 15 (8), 650-657 (2013)
   PUBMED   23470839
  REMARK    GeneRIF: Results show that Around 40 perdcent of male patients with
            brachytelephalangic chondrodysplasia punctata do not have detectable
            ARSE mutations or known maternal etiological factors.
REFERENCE   5  (bases 1 to 2219)
  AUTHORS   Daniele A, Parenti G, d'Addio M, Andria G, Ballabio A and Meroni G.
  TITLE     Biochemical characterization of arylsulfatase E and functional
            analysis of mutations found in patients with X-linked
            chondrodysplasia punctata
  JOURNAL   Am J Hum Genet 62 (3), 562-572 (1998)
   PUBMED   9497243
REFERENCE   6  (bases 1 to 2219)
  AUTHORS   Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo MG,
            Brunetti-Pierri N, Ballabio A and Andria G.
  TITLE     X-linked recessive chondrodysplasia punctata due to a new point
            mutation of the ARSE gene
  JOURNAL   Am J Med Genet 73 (2), 139-143 (1997)
   PUBMED   9409863
REFERENCE   7  (bases 1 to 2219)
  AUTHORS   Puca AA, Zollo M, Repetto M, Andolfi G, Guffanti A, Simon G,
            Ballabio A and Franco B.
  TITLE     Identification by shotgun sequencing, genomic organization, and
            functional analysis of a fourth arylsulfatase gene (ARSF) from the
            Xp22.3 region
  JOURNAL   Genomics 42 (2), 192-199 (1997)
   PUBMED   9192838
REFERENCE   8  (bases 1 to 2219)
  AUTHORS   Meroni G, Franco B, Archidiacono N, Messali S, Andolfi G, Rocchi M
            and Ballabio A.
  TITLE     Characterization of a cluster of sulfatase genes on Xp22.3 suggests
            gene duplications in an ancestral pseudoautosomal region
  JOURNAL   Hum Mol Genet 5 (4), 423-431 (1996)
   PUBMED   8845834
REFERENCE   9  (bases 1 to 2219)
  AUTHORS   Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M,
            Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C and
            Ballabio A.
  TITLE     A cluster of sulfatase genes on Xp22.3: mutations in
            chondrodysplasia punctata (CDPX) and implications for warfarin
            embryopathy
  JOURNAL   Cell 81 (1), 15-25 (1995)
   PUBMED   7720070
REFERENCE   10  (bases 1 to 2219)
  AUTHORS   Braverman,N.E., Bober,M.B., Brunetti-Pierri,N. and Suchy,S.F.
  TITLE     Chondrodysplasia Punctata 1, X-Linked
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301713
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X83573.1, AK223183.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381134.9/ ENSP00000370526.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005295.1, AK223183.1,
            AK223199.1 and AW779826.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 31, 2019 this sequence version replaced NM_000047.2.
            Summary: Arylsulfatase E is a member of the sulfatase family. It is
            glycosylated postranslationally and localized to the golgi
            apparatus. Sulfatases are essential for the correct composition of
            bone and cartilage matrix. X-linked chondrodysplasia punctata, a
            disease characterized by abnormalities in cartilage and bone
            development, has been linked to mutations in this gene. Alternative
            splicing results in multiple transcript variants. A pseudogene
            related to this gene is located on the Y chromosome. [provided by
            RefSeq, Sep 2013].
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' coding region and initiates translation at an alternate start
            codon, compared to variant 1. The encoded isoform (2) has a
            distinct N-terminus and is shorter than isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2219
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.33"
     gene            1..2219
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /note="arylsulfatase L"
                     /db_xref="GeneID:415"
                     /db_xref="HGNC:HGNC:719"
                     /db_xref="MIM:300180"
     CDS             139..1908
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /EC_number="3.1.6.1"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; arylsulfatase E (chondrodysplasia punctata 1)"
                     /codon_start=1
                     /product="arylsulfatase L isoform 2 precursor"
                     /protein_id="NP_000038.2"
                     /db_xref="CCDS:CCDS14122.1"
                     /db_xref="GeneID:415"
                     /db_xref="HGNC:HGNC:719"
                     /db_xref="MIM:300180"
                     /translation="MLHLHHSCLCFRSWLPAMLAVLLSLAPSASSDISASRPNILLLMA
                     DDLGIGDIGCYGNNTMRTPNIDRLAEDGVKLTQHISAASLCTPSRAAFLTGRYPVRSGM
                     VSSIGYRVLQWTGASGGLPTNETTFAKILKEKGYATGLIGKWHLGLNCESASDHCHHPL
                     HHGFDHFYGMPFSLMGDCARWELSEKRVNLEQKLNFLFQVLALVALTLVAGKLTHLIPV
                     SWMPVIWSALSAVLLLASSYFVGALIVHADCFLMRNHTITEQPMCFQRTTPLILQEVAS
                     FLKRNKHGPFLLFVSFLHVHIPLITMENFLGKSLHGLYGDNVEEMDWMVGRILDTLDVE
                     GLSNSTLIYFTSDHGGSLENQLGNTQYGGWNGIYKGGKGMGGWEGGIRVPGIFRWPGVL
                     PAGRVIGEPTSLMDVFPTVVRLAGGEVPQDRVIDGQDLLPLLLGTAQHSDHEFLMHYCE
                     RFLHAARWHQRDRGTMWKVHFVTPVFQPEGAGACYGRKVCPCFGEKVVHHDPPLLFDLS
                     RDPSETHILTPASEPVFYQVMERVQQAVWEHQRTLSPVPLQLDRLGNIWRPWLQPCCGP
                     FPLCWCLREDDPQ"
     sig_peptide     139..231
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     232..1905
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /product="arylsulfatase L isoform 2"
     misc_feature    310..312
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51690.2); glycosylation site"
     misc_feature    511..513
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P51690.2); glycosylation site"
     misc_feature    910..912
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51690.2); glycosylation site"
     misc_feature    1168..1170
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51690.2); glycosylation site"
     regulatory      1904..1909
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /note="hexamer: AATAAA"
     polyA_site      1930
                     /gene="ARSL"
                     /gene_synonym="ARSE; ASE; CDPX; CDPX1; CDPXR"
                     /note="major polyA site"
ORIGIN
        1 gttaatcatt cccagctcaa agccttgtgc aagtgctctc tgccttcacg cttgcttcct
       61 ttgggagaga accttcctct tcttgatcgg ggattcagga aggagcccag gagcagagga
      121 agtagagaga gagacaacat gttacatctg caccattctt gtttgtgttt caggagctgg
      181 ctgccagcga tgctcgctgt actgctaagt ttggcaccat cagcttccag cgacatttcc
      241 gcctcccgac cgaacatcct tcttctgatg gcggacgacc ttggcattgg ggacattggc
      301 tgctatggca acaacaccat gaggactccg aatattgacc gccttgcaga ggacggcgtg
      361 aagctgaccc aacacatctc tgccgcatct ttgtgcaccc caagcagagc cgccttcctc
      421 acgggcagat accctgtgcg atcagggatg gtttccagca ttggttaccg tgttcttcag
      481 tggaccggag catctggagg tcttccaaca aatgagacaa cttttgcaaa aatactgaaa
      541 gagaaaggct atgccactgg actcattgga aaatggcatc tgggtctcaa ctgtgagtca
      601 gccagtgatc attgccacca ccctctccat catggctttg accatttcta cggaatgcct
      661 ttctccttga tgggtgattg cgcccgctgg gaactctcag agaagcgtgt caacctggaa
      721 caaaaactca acttcctctt ccaagtcctg gccttggttg ccctcacact ggtagcaggg
      781 aagctcacac acctgatacc cgtctcgtgg atgccggtca tctggtcagc cctttcggcc
      841 gtcctcctcc tcgcaagctc ctattttgtg ggtgctctga ttgtccatgc cgattgcttt
      901 ctgatgagaa accacaccat cacggagcag cccatgtgct tccaaagaac gacacccctt
      961 attctgcagg aggttgcgtc ctttctcaaa aggaataagc atgggccttt cctcctcttt
     1021 gtttcctttc tacacgttca catccctctt atcactatgg agaacttcct cgggaagagt
     1081 ctccacgggc tgtatgggga caacgtagag gagatggact ggatggtagg acggatcctt
     1141 gacactttgg acgtggaggg tttgagcaac agcaccctca tttattttac gtcggatcac
     1201 ggcggttccc tagagaatca acttggaaac acccagtatg gtggctggaa tggaatttat
     1261 aaaggtggga agggcatggg aggatgggaa ggtgggatcc gcgtgcccgg gatcttccgc
     1321 tggcccgggg tgctcccggc cggccgagtg attggcgagc ccacgagtct gatggacgtg
     1381 ttccccaccg tggtccggct ggcgggcggc gaggtgcccc aggacagagt gattgacggc
     1441 caagaccttc tgcccttgct cctggggaca gcccaacact cagaccacga gttcctgatg
     1501 cattattgtg agaggtttct gcacgcagcc aggtggcatc aacgggacag aggaacaatg
     1561 tggaaagtcc actttgtgac gcctgtgttc cagccagagg gagccggtgc ctgctatgga
     1621 agaaaggtct gcccgtgctt tggggaaaaa gtagtccacc acgatccacc tttgctcttt
     1681 gacctctcaa gagacccttc tgagacccac atcctcacac cagcctcaga gcccgtgttc
     1741 tatcaggtga tggaacgagt ccagcaggcg gtgtgggaac accagcggac actcagccca
     1801 gttcctctgc agctggacag gctgggcaac atctggagac cgtggctgca gccctgctgt
     1861 ggcccgttcc ccctctgctg gtgccttagg gaagatgacc cacaataaat gtctgcagtg
     1921 aaaagctgga gccccgattc ctaaattttg tcactcaaat tgaaacaaac cagctggcca
     1981 tggtggttgt catcccagca ctttaggagg ccaccacagg aggatcactc ccgtgatcaa
     2041 aaccaacctg ggcaacatga tgaaactcta gctctacaaa acaaaaataa aaaaaaaatt
     2101 agcctgcatg gtggcacacg cctgtagttc tagcttctca ggaggctaag gcaggaggat
     2161 catttgagca ccggagttgg aggctgtact gagctatgat tgtaccactg caccccagc
//
LOCUS       NM_000048               2140 bp    mRNA    linear   PRI 17-JUL-2023
DEFINITION  Homo sapiens argininosuccinate lyase (ASL), transcript variant 2,
            mRNA.
ACCESSION   NM_000048
VERSION     NM_000048.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2140)
  AUTHORS   Kido J, Matsumoto S, Sugawara K, Sawada T and Nakamura K.
  TITLE     Variants associated with urea cycle disorders in Japanese patients:
            Nationwide study and literature review
  JOURNAL   Am J Med Genet A 185 (7), 2026-2036 (2021)
   PUBMED   33851512
  REMARK    GeneRIF: Variants associated with urea cycle disorders in Japanese
            patients: Nationwide study and literature review.
REFERENCE   2  (bases 1 to 2140)
  AUTHORS   Nagamani SCS, Ali S, Izem R, Schady D, Masand P, Shneider BL, Leung
            DH and Burrage LC.
  TITLE     Biomarkers for liver disease in urea cycle disorders
  JOURNAL   Mol Genet Metab 133 (2), 148-156 (2021)
   PUBMED   33846069
  REMARK    GeneRIF: Biomarkers for liver disease in urea cycle disorders.
REFERENCE   3  (bases 1 to 2140)
  AUTHORS   Zheng Z, Lin Y, Lin W, Zhu L, Jiang M, Wang W and Fu Q.
  TITLE     Clinical and genetic analysis of five Chinese patients with urea
            cycle disorders
  JOURNAL   Mol Genet Genomic Med 8 (7), e1301 (2020)
   PUBMED   32410394
  REMARK    GeneRIF: Clinical and genetic analysis of five Chinese patients with
            urea cycle disorders.
REFERENCE   4  (bases 1 to 2140)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2140)
  AUTHORS   Nagamani,S.C.S., Erez,A. and Lee,B.
  TITLE     Argininosuccinate Lyase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   21290785
REFERENCE   6  (bases 1 to 2140)
  AUTHORS   Ah Mew,N., Simpson,K.L., Gropman,A.L., Lanpher,B.C., Chapman,K.A.
            and Summar,M.L.
  TITLE     Urea Cycle Disorders Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301396
REFERENCE   7  (bases 1 to 2140)
  AUTHORS   Stone RL, Aimi J, Barshop BA, Jaeken J, Van den Berghe G, Zalkin H
            and Dixon JE.
  TITLE     A mutation in adenylosuccinate lyase associated with mental
            retardation and autistic features
  JOURNAL   Nat Genet 1 (1), 59-63 (1992)
   PUBMED   1302001
REFERENCE   8  (bases 1 to 2140)
  AUTHORS   Abramson RD, Barbosa P, Kalumuck K and O'Brien WE.
  TITLE     Characterization of the human argininosuccinate lyase gene and
            analysis of exon skipping
  JOURNAL   Genomics 10 (1), 126-132 (1991)
   PUBMED   2045097
REFERENCE   9  (bases 1 to 2140)
  AUTHORS   Barbosa P, Cialkowski M and O'Brien WE.
  TITLE     Analysis of naturally occurring and site-directed mutations in the
            argininosuccinate lyase gene
  JOURNAL   J Biol Chem 266 (8), 5286-5290 (1991)
   PUBMED   1705937
REFERENCE   10  (bases 1 to 2140)
  AUTHORS   Naylor,S.L., Klebe,R.J. and Shows,T.B.
  TITLE     Argininosuccinic aciduria: assignment of the argininosuccinate lyase
            gene to the pter to q22 region of human chromosome 7 by
            bioautography
  JOURNAL   Proc Natl Acad Sci U S A 75 (12), 6159-6162 (1978)
   PUBMED   282632
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.193225.1,
            SRR7410570.272416.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000304874.14/ ENSP00000307188.9
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX328836.2, BC008195.1,
            AC068533.7 and AI469765.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000048.3.
            Summary: This gene encodes a member of the lyase 1 family. The
            encoded protein forms a cytosolic homotetramer and primarily
            catalyzes the reversible hydrolytic cleavage of argininosuccinate
            into arginine and fumarate, an essential step in the liver in
            detoxifying ammonia via the urea cycle. Mutations in this gene
            result in the autosomal recessive disorder argininosuccinic
            aciduria, or argininosuccinic acid lyase deficiency. A
            nontranscribed pseudogene is also located on the long arm of
            chromosome 22. Alternatively spliced transcript variants encoding
            different isoforms have been described. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2140
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.21"
     gene            1..2140
                     /gene="ASL"
                     /gene_synonym="ASAL"
                     /note="argininosuccinate lyase"
                     /db_xref="GeneID:435"
                     /db_xref="HGNC:HGNC:746"
                     /db_xref="MIM:608310"
     CDS             82..1476
                     /gene="ASL"
                     /gene_synonym="ASAL"
                     /EC_number="4.3.2.1"
                     /note="isoform 1 is encoded by transcript variant 2;
                     argininosuccinase; arginosuccinase"
                     /codon_start=1
                     /product="argininosuccinate lyase isoform 1"
                     /protein_id="NP_000039.2"
                     /db_xref="CCDS:CCDS5531.1"
                     /db_xref="GeneID:435"
                     /db_xref="HGNC:HGNC:746"
                     /db_xref="MIM:608310"
                     /translation="MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAY
                     SRGLEKAGLLTKAEMDQILHGLDKVAEEWAQGTFKLNSNDEDIHTANERRLKELIGATA
                     GKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTHLQR
                     AQPIRWSHWILSHAVALTRDSERLLEVRKRINVLPLGSGAIAGNPLGVDRELLRAELNF
                     GAITLNSMDATSERDFVAEFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGS
                     SLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPSTYNKDLQEDKEAVFEVSDTMS
                     AVLQVATGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAE
                     TKGVALNQLSLQELQTISPLFSGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRAL
                     LQAQQA"
     misc_feature    85..87
                     /gene="ASL"
                     /gene_synonym="ASAL"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000250|UniProtKB:Q91YI0; propagated from
                     UniProtKB/Swiss-Prot (P04424.4); acetylation site"
     misc_feature    100..102
                     /gene="ASL"
                     /gene_synonym="ASAL"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q91YI0; propagated from
                     UniProtKB/Swiss-Prot (P04424.4); acetylation site"
     misc_feature    286..288
                     /gene="ASL"
                     /gene_synonym="ASAL"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:20167786; propagated from
                     UniProtKB/Swiss-Prot (P04424.4); acetylation site"
     misc_feature    943..945
                     /gene="ASL"
                     /gene_synonym="ASAL"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:20167786; propagated from
                     UniProtKB/Swiss-Prot (P04424.4); acetylation site"
     misc_feature    961..963
                     /gene="ASL"
                     /gene_synonym="ASAL"
                     /note="Increases basicity of active site His.
                     /evidence=ECO:0000250|UniProtKB:P24058; propagated from
                     UniProtKB/Swiss-Prot (P04424.4); other site"
     regulatory      1498..1503
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASL"
                     /gene_synonym="ASAL"
                     /note="hexamer: AATAAA"
     polyA_site      1518
                     /gene="ASL"
                     /gene_synonym="ASAL"
                     /note="major polyA site"
     regulatory      1722..1727
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASL"
                     /gene_synonym="ASAL"
                     /note="hexamer: AATAAA"
     regulatory      1727..1732
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASL"
                     /gene_synonym="ASAL"
                     /note="hexamer: AACAAA"
     polyA_site      1740
                     /gene="ASL"
                     /gene_synonym="ASAL"
     polyA_site      1756
                     /gene="ASL"
                     /gene_synonym="ASAL"
     regulatory      1887..1892
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASL"
                     /gene_synonym="ASAL"
                     /note="hexamer: AATAAA"
     regulatory      1891..1896
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASL"
                     /gene_synonym="ASAL"
                     /note="hexamer: AATAAA"
     regulatory      1902..1907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASL"
                     /gene_synonym="ASAL"
                     /note="hexamer: AATAAA"
     polyA_site      1903
                     /gene="ASL"
                     /gene_synonym="ASAL"
     polyA_site      1912
                     /gene="ASL"
                     /gene_synonym="ASAL"
     polyA_site      1926
                     /gene="ASL"
                     /gene_synonym="ASAL"
ORIGIN
        1 agtggcgggc gcgacactat ccgtgcggcc aggcggagac ccggaggacc gaagcttccg
       61 gacgacgagg aaccgcccaa catggcctcg gagagtggga agctttgggg tggccggttt
      121 gtgggtgcag tggaccccat catggagaag ttcaacgcgt ccattgccta cgaccggcac
      181 ctttgggagg tggatgttca aggcagcaaa gcctacagca ggggcctgga gaaggcaggg
      241 ctcctcacca aggccgagat ggaccagata ctccatggcc tagacaaggt ggctgaggag
      301 tgggcccagg gcaccttcaa actgaactcc aatgatgagg acatccacac agccaatgag
      361 cgccgcctga aggagctcat tggtgcaacg gcagggaagc tgcacacggg acggagccgg
      421 aatgaccagg tggtcacaga cctcaggctg tggatgcggc agacctgctc cacgctctcg
      481 ggcctcctct gggagctcat taggaccatg gtggatcggg cagaggcgga acgtgatgtt
      541 ctcttcccgg ggtacaccca tttgcagagg gcccagccca tccgctggag ccactggatt
      601 ctgagccacg ccgtggcact gacccgagac tctgagcggc tgctggaggt gcggaagcgg
      661 atcaatgtcc tgcccctggg gagtggggcc attgcaggca atcccctggg tgtggaccga
      721 gagctgctcc gagcagaact caactttggg gccatcactc tcaacagcat ggatgccact
      781 agtgagcggg actttgtggc cgagttcctg ttctgggctt cgctgtgcat gacccatctc
      841 agcaggatgg ccgaggacct catcctctac tgcaccaagg aattcagctt cgtgcagctc
      901 tcagatgcct acagcacggg aagcagcctg atgccccaga agaaaaaccc cgacagtttg
      961 gagctgatcc ggagcaaggc tgggcgtgtg tttgggcggt gtgccgggct cctgatgacc
     1021 ctcaagggac ttcccagcac ctacaacaaa gacttacagg aggacaagga agctgtgttt
     1081 gaagtgtcag acactatgag tgccgtgctc caggtggcca ctggcgtcat ctctacgctg
     1141 cagattcacc aagagaacat gggacaggct ctcagccccg acatgctggc cactgacctt
     1201 gcctattacc tggtccgcaa agggatgcca ttccgccagg cccacgaggc ctccgggaaa
     1261 gctgtgttca tggccgagac caagggggtc gccctcaacc agctgtcact gcaggagctg
     1321 cagaccatca gccccctgtt ctcgggcgac gtgatctgcg tgtgggacta cgggcacagt
     1381 gtggagcagt atggtgccct gggcggcact gcgcgctcca gcgtcgactg gcagatccgc
     1441 caggtgcggg cgctactgca ggcacagcag gcctaggtcc tcccacacct gccccctaat
     1501 aaagtgggcg cgagaggagg ctgctgtgtg tttcctgccc cagcctggct ccctcgttgc
     1561 tgggctttcg gggctggcca gtggggacag tcagggactg gagaggcagg gcagggtggc
     1621 ctgtaatccc agcactttgg aagggcaagg tgcgaggatg cttgaggcca ggagtttgac
     1681 acagcctggg caacacaggg agacccccat ctctactcaa taataaaaca aatagcctgg
     1741 cgtggtggcc catgcatata gtcccagcta cttgtaaggc tgaggtgaga ggacacttgt
     1801 gcccaggagt ggaggctgca gtgagctatg atcacgccac tgcattccag cctggataac
     1861 agagtgagaa cctatctcta aaaataaata aataaacgaa aaataaatgg aagcggagaa
     1921 aactgggcaa gggcaatgag agtcgtagac gggaagggaa gagggggctc ccatcatagc
     1981 ctctgctctg tccaggcccc atccccttca gacagggtat cacagtgacc tcctaggcca
     2041 ggagcgatgg ctcacgcctg taatcctagc attttgggag gcctgggcaa caggaagact
     2101 ccaactacca tattaaaaaa aacatgaatg aaagcaaaaa
//
LOCUS       NM_000049               5422 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens aspartoacylase (ASPA), transcript variant 1, mRNA.
ACCESSION   NM_000049
VERSION     NM_000049.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5422)
  AUTHORS   Han Y, Wang X, Xu M, Teng Z, Qin R, Tan G, Li P, Sun P, Liu H, Chen
            L and Jia B.
  TITLE     Aspartoacylase promotes the process of tumour development and is
            associated with immune infiltrates in gastric cancer
  JOURNAL   BMC Cancer 23 (1), 604 (2023)
   PUBMED   37391709
  REMARK    GeneRIF: Aspartoacylase promotes the process of tumour development
            and is associated with immune infiltrates in gastric cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5422)
  AUTHORS   Gersing SK, Wang Y, Gronbaek-Thygesen M, Kampmeyer C, Clausen L,
            Willemoes M, Andreasson C, Stein A, Lindorff-Larsen K and
            Hartmann-Petersen R.
  TITLE     Mapping the degradation pathway of a disease-linked aspartoacylase
            variant
  JOURNAL   PLoS Genet 17 (4), e1009539 (2021)
   PUBMED   33914734
  REMARK    GeneRIF: Mapping the degradation pathway of a disease-linked
            aspartoacylase variant. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5422)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 5422)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 5422)
  AUTHORS   Shaag A, Anikster Y, Christensen E, Glustein JZ, Fois A,
            Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT et al.
  TITLE     The molecular basis of canavan (aspartoacylase deficiency) disease
            in European non-Jewish patients
  JOURNAL   Am J Hum Genet 57 (3), 572-580 (1995)
   PUBMED   7668285
REFERENCE   6  (bases 1 to 5422)
  AUTHORS   Kaul R, Gao GP, Michals K, Whelan DT, Levin S and Matalon R.
  TITLE     Novel (cys152 > arg) missense mutation in an Arab patient with
            Canavan disease
  JOURNAL   Hum Mutat 5 (3), 269-271 (1995)
   PUBMED   7599639
REFERENCE   7  (bases 1 to 5422)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24501781
REFERENCE   8  (bases 1 to 5422)
  AUTHORS   Matalon,R., Delgado,L. and Michals-Matalon,K.
  TITLE     Canavan Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301412
REFERENCE   9  (bases 1 to 5422)
  AUTHORS   Hagenfeldt L, Bollgren I and Venizelos N.
  TITLE     N-acetylaspartic aciduria due to aspartoacylase deficiency--a new
            aetiology of childhood leukodystrophy
  JOURNAL   J Inherit Metab Dis 10 (2), 135-141 (1987)
   PUBMED   3116332
REFERENCE   10  (bases 1 to 5422)
  AUTHORS   Ziomek,E. and Szewczuk,A.
  TITLE     Polymorphism of the cobalt-activated acylase in human tissues
  JOURNAL   Acta Biochim Pol 25 (1), 3-14 (1978)
   PUBMED   27051
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.239208.1,
            SRR1803613.185380.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000263080.3/ ENSP00000263080.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025125.15.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 31, 2019 this sequence version replaced NM_000049.3.
            Summary: This gene encodes an enzyme that catalyzes the conversion
            of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is
            abundant in the brain where hydrolysis by aspartoacylase is thought
            to help maintain white matter. This protein is an NAA scavenger in
            other tissues. Mutations in this gene cause Canavan disease.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) and variant 2 encode the same
            protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5422
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..5422
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /note="aspartoacylase"
                     /db_xref="GeneID:443"
                     /db_xref="HGNC:HGNC:756"
                     /db_xref="MIM:608034"
     misc_feature    146..148
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /note="upstream in-frame stop codon"
     CDS             164..1105
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /EC_number="3.5.1.15"
                     /note="aminoacylase 2; ACY-2"
                     /codon_start=1
                     /product="aspartoacylase"
                     /protein_id="NP_000040.1"
                     /db_xref="CCDS:CCDS11028.1"
                     /db_xref="GeneID:443"
                     /db_xref="HGNC:HGNC:756"
                     /db_xref="MIM:608034"
                     /translation="MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTG
                     LEVKPFITNPRAVKKCTRYIDCDLNRIFDLENLGKKMSEDLPYEVRRAQEINHLFGPKD
                     SEDSYDIIFDLHNTTSNMGCTLILEDSRNNFLIQMFHYIKTSLAPLPCYVYLIEHPSLK
                     YATTRSIAKYPVGIEVGPQPQGVLRADILDQMRKMIKHALDFIHHFNEGKEFPPCAIEV
                     YKIIEKVDYPRDENGEIAAIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYPV
                     FVNEAAYYEKKEAFAKTTKLTLNAKSIRCCLH"
     regulatory      1369..1374
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /note="hexamer: AATAAA"
     polyA_site      1399
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
     regulatory      5401..5406
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /note="hexamer: AATAAA"
     polyA_site      5422
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /note="major polyA site"
ORIGIN
        1 agaacttgta acagaaaatt aaaatatact ccactcaagg gaattctgta ctttgccctt
       61 tgggtaaagt ctcatttaca tttctaaacc tttcttaaga aaatcgaatt tcctttgatc
      121 tctcttctga attgcagaaa tcagataaaa actacttggt gaaatgactt cttgtcacat
      181 tgctgaagaa catatacaaa aggttgctat ctttggagga acccatggga atgagctaac
      241 cggagtattt ctggttaagc attggctaga gaatggcgct gagattcaga gaacagggct
      301 ggaggtaaaa ccatttatta ctaaccccag agcagtgaag aagtgtacca gatatattga
      361 ctgtgacctg aatcgcattt ttgaccttga aaatcttggc aaaaaaatgt cagaagattt
      421 gccatatgaa gtgagaaggg ctcaagaaat aaatcattta tttggtccaa aagacagtga
      481 agattcctat gacattattt ttgaccttca caacaccacc tctaacatgg ggtgcactct
      541 tattcttgag gattccagga ataacttttt aattcagatg tttcattaca ttaagacttc
      601 tctggctcca ctaccctgct acgtttatct gattgagcat ccttccctca aatatgcgac
      661 cactcgttcc atagccaagt atcctgtggg tatagaagtt ggtcctcagc ctcaaggggt
      721 tctgagagct gatatcttgg atcaaatgag aaaaatgatt aaacatgctc ttgattttat
      781 acatcatttc aatgaaggaa aagaatttcc tccctgcgcc attgaggtct ataaaattat
      841 agagaaagtt gattaccccc gggatgaaaa tggagaaatt gctgctatca tccatcctaa
      901 tctgcaggat caagactgga aaccactgca tcctggggat cccatgtttt taactcttga
      961 tgggaagacg atcccactgg gcggagactg taccgtgtac cccgtgtttg tgaatgaggc
     1021 cgcatattac gaaaagaaag aagcttttgc aaagacaact aaactaacgc tcaatgcaaa
     1081 aagtattcgc tgctgtttac attagaaatc acttccagct tacatcttac acggtgtctt
     1141 acaaattctg ctagtctgta agctccttaa gagtagggtt gtgccttatt caactgcata
     1201 catagctcct agcacagtgc cttattcggt aggcatctaa gcacatttct taaattaatt
     1261 aatatatctt taaagatatc atattttatg tatgtagctt attcaaagaa gtgtttccta
     1321 tttctatata gtttattata catgatactt gggtagctca acattcttaa taaacagcct
     1381 ttgtattcag aatataaaat tgaaatagat atatataaag ttatttgttt tattgtgctt
     1441 tgccttacta cacttcacgg atactgtact tgtacttttt ttccaaattg aaggtttttg
     1501 gcaaccctgt gtctagaaag tctaacagtg ccatgtttcc aacagcatgt gctcactcct
     1561 tgtctctgtg tcaccctttg ataatatttc aagctttttt atgatttatt tattatatct
     1621 gctatggtga tctgtgatca gtggcctttg atgttactgt tgttaagtgt tttggggcac
     1681 catgaatcgt gcccatgtga gactgcgaac ttagtgaatg ttgtgtgagt tctaactgct
     1741 ctactgaccg gccatttcct tgtctctctc cctgtcctct ggcctccctg ttccttgaga
     1801 cacaataatt aataagtcta cagcagactc tgtgtgttca agtgaaagaa agggtcatac
     1861 ttctagaaat taagcttagt aaggaaggca tgtcaaaagc tgagacaggc tgaaagctag
     1921 gcctcttgca ctggttagcc aagttgtgaa ttcaaagaaa aggatcttga agaaaattaa
     1981 aaattctact ccagtgcaca cacacaaatg ataagaaagc aaaacaacct tattgctgat
     2041 atggagacag ttttagtggt ctggatagaa gatcaaacca gccacacatt aagccaaagc
     2101 atgacccaca gcaaggccct aactctcttc aattctgtga aggctgagag aggtgaggaa
     2161 gctgcaggaa gctgggagag gttggttcac aaggtttaag gaaagaagac agctctaaaa
     2221 cctacaagtg gaaagcgaac cagcaagttg ctgatgtgga agctgtagca agttatccag
     2281 aagatgtagc taaaatcatt gacaaagatg gctacactaa acaacggatc ttcagtgtag
     2341 ttgaaacagc cttctattgg aagaagatgc tatctaggac tttcctagct agaggggaga
     2401 aatgaatgcc tagcttcaaa gcttcaaagg acagcctgac tctcttaaga gctaacacag
     2461 ctggtgactt tgggttaaag ccaaagctca ttaactgttt caaaaatcct aaaactcttg
     2521 ttttttgttt tttttttgag acggagtctt gctctgtcgt ccaggctgga gtgcagtggc
     2581 gcaatctcgg ctcactgcaa gctccgcctc ccaggttcat gccattctcc tgcctcagcc
     2641 tccccagtag ctgagattac aggtgcctgc caccacgccc ggctaatttt ttgcattttt
     2701 ttagtagaga tggggtttca ctctgctagc caggatggtc tcgatctcct gacctcatga
     2761 tccgcctgcc tcggcctccc aaagtgctgg gattacaggc atgagccacc acgcccggcc
     2821 caaaaatcgt aggactctga agactgatgc taaacctgct gtgtctgagc tctataaatg
     2881 gaacaacaaa gcctcgctgg cagcacatct gtttgcggca tggtttactg tatattttaa
     2941 gcccactgtt gagacctact gcttgggaaa aaaaaaaatt cctttcaaaa tactactgct
     3001 gattgacaat acaccatgtt acccaagagc tctgctggag atgtgcgaag agattagcat
     3061 tgttttcgcg cctgctacca cgacatccag ccgaagccca tggatcaagg cgtcattgtg
     3121 actttcaaat ctaactattt aagaaataca tttcaggctg ggggagggga gaaaaaagaa
     3181 aaaaaagaaa ggaagaaaaa aatcatttca taaggctata gctgccatag atagtgattc
     3241 ctctgatgga gctgggcaaa gtaaacagaa aacctctgga aaggattcag cattccagat
     3301 gccattaaga acattcagga tccgtgggag gagatcaaaa tatcaacatt aacaggagtt
     3361 tggaaaaagt gaattccaac cctcttggat gactctgagg aattcgagac ttgagtaaag
     3421 gaagtcatgc agatgtacag caagagaatg agaagtggag cctgaagatg taactgaact
     3481 gctgcaatct catgatcaca cttgaatgga tgaggagtcg cttcttataa atgagcaaaa
     3541 aagtggtttc ttggctgcaa tcaactcttg ttgcagatgc tgtgaacact gttgaaatga
     3601 caaaggattt agaatattac gtaaacatag ttgataaagc agcagcaggg tttaagagga
     3661 ttgactccta ttttgaaatg agttcggctg ggagaagtgg ctcatgcctg tcgtcctagc
     3721 actttgggag gccaaggcag acagagcacc tgaggtaagg agttcgagac cagcctggcc
     3781 aacatggtga aaccccctct ctactaaaaa taccaacata ttagccaggc gtggtggcac
     3841 gtgcctgtag tcccagctac ttgggaggct gaggcagaag gatcacttga acccaggagg
     3901 cagaggttgc agtaagccaa gactgcgcca ctgcactcca gcctggtgga cacagcaagc
     3961 ctccatctca aaaaaaaaaa aaaaaaaaaa atgagttcta ctgtgaataa aatgttatta
     4021 aacagcattt catgctacag agaaatcttt cacgaaagga agagtcaatc aatgcagcga
     4081 acttgttgtt ttattttaag aaattgtcac ggccatccca accctcagtg cccaaccacc
     4141 ctgatcaggc agccatcatc aaggcaaggc cctccaccag caaaaagatc atgaattgct
     4201 gaaagctcaa atgatggtta gcttttttag caataaagca tttttaatga aggaatgtac
     4261 atgttttaga tataatgcta ttacacattt aacatactac atatagtgtg agcataactt
     4321 ttacacgtac tggaaaatca aaaaatatgt gtggctcatc tgttataatg tttgttttat
     4381 tgtggtgatc tggagccaag gctgaaatat ctctgaggta tgcctgtaat gtataagtgc
     4441 tagtagaaat gagttgtgca gaattgctat ttttttcaat ttttatattt gggttaatgg
     4501 taatatacta agcgtccagt ctataaactt cagcattcgt tgcgaaatcc agaggagact
     4561 tttaagtgct gttttgtaga tgaaatatga aagagaaaca agggcttaat ggtaaagatg
     4621 acatatgact atattaagaa actgaatggc cctttgtcca caaacagtaa cccacacagc
     4681 attgctactg tggcatgccc actgctctgc actgacctca tggagcagag aacctccttc
     4741 agacacctca cgcaccccct gaggagctaa tgtttcttcc caacatggaa aatttggaag
     4801 aggcctattc ttcacagctg tcacttctca ttttgaaaga atatgcccac ccttattcgc
     4861 aggcaaggtg tgaggaggtc tttgggctcc agctgttgcc agcagaggtg gtgaaagtca
     4921 acaacagggc actggacaca catagaaatg tgacccacag ctatggtttg caaatacagt
     4981 ctttcaagaa gtcctgccat gtcctaaatg cccaaacccc ttgcctccca tgattcttct
     5041 cctcaaagga ccttctgctg gacgccgccc cctccctctc cagccccacc agggccctcc
     5101 ccgccatcct cttaggccac agcagccaat aaagagtgtt tttattccat gatctgtacc
     5161 cccaatgaat ccataatcat agtttcaaat gtatttacca aaaatactaa cattatctgg
     5221 aatgaatgaa tgaatgaatg aatgaataaa tattatatat ttatacattt tcattcttcc
     5281 aaagtgaacc ccactatgcc agttttactc catactcagt gttctggaaa gcccatattc
     5341 tttctaaatt tttcagcatt tttttctatt tttgtacttt accaaaatta tttacattgg
     5401 aataaactct cttccttctg aa
//
LOCUS       NM_000051              12915 bp    mRNA    linear   PRI 13-SEP-2023
DEFINITION  Homo sapiens ATM serine/threonine kinase (ATM), transcript variant
            2, mRNA.
ACCESSION   NM_000051
VERSION     NM_000051.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 12915)
  AUTHORS   Paranal RM, Jiang Z, Hutchings D, Kryklyva V, Gauthier C, Fujikura
            K, Nanda N, Huang B, Skaro M, Wolfgang CL, He J, Klimstra DS, Brand
            RE, Singhi AD, DeMarzo A, Zheng L, Goggins M, Brosens LA, Hruban RH,
            Klein AP, Lotan T, Wood LD and Roberts NJ.
  TITLE     Somatic loss of ATM is a late event in pancreatic tumorigenesis
  JOURNAL   J Pathol 260 (4), 455-464 (2023)
   PUBMED   37345735
  REMARK    GeneRIF: Somatic loss of ATM is a late event in pancreatic
            tumorigenesis.
REFERENCE   2  (bases 1 to 12915)
  AUTHORS   Hernandez-Martinez JM, Rosell R and Arrieta O.
  TITLE     Somatic and germline ATM variants in non-small-cell lung cancer:
            Therapeutic implications
  JOURNAL   Crit Rev Oncol Hematol 188, 104058 (2023)
   PUBMED   37343657
  REMARK    GeneRIF: Somatic and germline ATM variants in non-small-cell lung
            cancer: Therapeutic implications. Review article
REFERENCE   3  (bases 1 to 12915)
  AUTHORS   Luo S, Lyu Z, Ge L, Li Y, Liu Y, Yuan Y, Zhao R, Huang L, Zhao J,
            Huang H and Luo Y.
  TITLE     ATAXIA TELANGIECTASIA MUTATED PROTECTS AGAINST
            LIPOPOLYSACCARIDE-INDUCED BLOOD-BRAIN BARRIER DISRUPTION BY
            REGULATING ATK/DRP1-MEDIATED MITOCHONDRIAL HOMEOSTASIS
  JOURNAL   Shock 60 (1), 100-109 (2023)
   PUBMED   37141173
  REMARK    GeneRIF: ATAXIA TELANGIECTASIA MUTATED PROTECTS AGAINST
            LIPOPOLYSACCARIDE-INDUCED BLOOD-BRAIN BARRIER DISRUPTION BY
            REGULATING ATK/DRP1-MEDIATED MITOCHONDRIAL HOMEOSTASIS.
REFERENCE   4  (bases 1 to 12915)
  AUTHORS   Lu Y, Huang P, Li Y, Liu W, Li J, Zhao R, Feng H, Shi C and Cao G.
  TITLE     The FBXO32/ATR/ATM axis acts as a molecular switch to control the
            sensitivity of osteosarcoma cells to irradiation through its
            regulation of EXO1 expression
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 55 (5), 842-852 (2023)
   PUBMED   37227155
  REMARK    GeneRIF: The FBXO32/ATR/ATM axis acts as a molecular switch to
            control the sensitivity of osteosarcoma cells to irradiation through
            its regulation of EXO1 expression.
REFERENCE   5  (bases 1 to 12915)
  AUTHORS   Morrow DM, Tagle DA, Shiloh Y, Collins FS and Hieter P.
  TITLE     TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia
            telangiectasia, is functionally related to the yeast checkpoint gene
            MEC1
  JOURNAL   Cell 82 (5), 831-840 (1995)
   PUBMED   7545545
REFERENCE   6  (bases 1 to 12915)
  AUTHORS   Gatti,R. and Perlman,S.
  TITLE     Ataxia-Telangiectasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301790
REFERENCE   7  (bases 1 to 12915)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301317
REFERENCE   8  (bases 1 to 12915)
  AUTHORS   Hyams JS, Treem WR, Carey DE, Wyzga N, Eddy E, Goldberg BD and Moore
            RE.
  TITLE     Comparison of collagen propeptides as growth markers in children
            with inflammatory bowel disease
  JOURNAL   Gastroenterology 100 (4), 971-975 (1991)
   PUBMED   2001833
REFERENCE   9  (bases 1 to 12915)
  AUTHORS   Curry CJ, O'Lague P, Tsai J, Hutchison HT, Jaspers NG, Wara D and
            Gatti RA.
  TITLE     ATFresno: a phenotype linking ataxia-telangiectasia with the
            Nijmegen breakage syndrome
  JOURNAL   Am J Hum Genet 45 (2), 270-275 (1989)
   PUBMED   2491181
  REMARK    Erratum:[Am J Hum Genet 1989 Oct;45(4):663. Hutchinson HT [corrected
            to Hutchison HT]]
REFERENCE   10  (bases 1 to 12915)
  AUTHORS   Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P,
            Ersoy F, Foroud T, Jaspers NG, Lange K et al.
  TITLE     Localization of an ataxia-telangiectasia gene to chromosome 11q22-23
  JOURNAL   Nature 336 (6199), 577-580 (1988)
   PUBMED   3200306
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1989742.1,
            SRR11853565.5862.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000675843.1/ ENSP00000501606.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001925.5, U33841.1, X91196.1,
            U26455.1 and AP005718.3.
            On Feb 27, 2020 this sequence version replaced NM_000051.3.
            Summary: The protein encoded by this gene belongs to the
            PI3/PI4-kinase family. This protein is an important cell cycle
            checkpoint kinase that phosphorylates; thus, it functions as a
            regulator of a wide variety of downstream proteins, including tumor
            suppressor proteins p53 and BRCA1, checkpoint kinase CHK2,
            checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1.
            This protein and the closely related kinase ATR are thought to be
            master controllers of cell cycle checkpoint signaling pathways that
            are required for cell response to DNA damage and for genome
            stability. Mutations in this gene are associated with ataxia
            telangiectasia, an autosomal recessive disorder. [provided by
            RefSeq, Aug 2010].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..12915
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.3"
     gene            1..12915
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /note="ATM serine/threonine kinase"
                     /db_xref="GeneID:472"
                     /db_xref="HGNC:HGNC:795"
                     /db_xref="MIM:607585"
     misc_feature    145..147
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /note="upstream in-frame stop codon"
     CDS             151..9321
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /EC_number="2.7.11.1"
                     /note="isoform a is encoded by transcript variant 2; TEL1,
                     telomere maintenance 1, homolog; AT mutated; serine-protein
                     kinase ATM; A-T mutated; ataxia telangiectasia mutated;
                     serine/threonine kinase ATM"
                     /codon_start=1
                     /product="serine-protein kinase ATM isoform a"
                     /protein_id="NP_000042.3"
                     /db_xref="CCDS:CCDS31669.1"
                     /db_xref="GeneID:472"
                     /db_xref="HGNC:HGNC:795"
                     /db_xref="MIM:607585"
                     /translation="MSLVLNDLLICCRQLEHDRATERKKEVEKFKRLIRDPETIKHLDR
                     HSDSKQGKYLNWDAVFRFLQKYIQKETECLRIAKPNVSASTQASRQKKMQEISSLVKYF
                     IKCANRRAPRLKCQELLNYIMDTVKDSSNGAIYGADCSNILLKDILSVRKYWCEISQQQ
                     WLELFSVYFRLYLKPSQDVHRVLVARIIHAVTKGCCSQTDGLNSKFLDFFSKAIQCARQ
                     EKSSSGLNHILAALTIFLKTLAVNFRIRVCELGDEILPTLLYIWTQHRLNDSLKEVIIE
                     LFQLQIYIHHPKGAKTQEKGAYESTKWRSILYNLYDLLVNEISHIGSRGKYSSGFRNIA
                     VKENLIELMADICHQVFNEDTRSLEISQSYTTTQRESSDYSVPCKRKKIELGWEVIKDH
                     LQKSQNDFDLVPWLQIATQLISKYPASLPNCELSPLLMILSQLLPQQRHGERTPYVLRC
                     LTEVALCQDKRSNLESSQKSDLLKLWNKIWCITFRGISSEQIQAENFGLLGAIIQGSLV
                     EVDREFWKLFTGSACRPSCPAVCCLTLALTTSIVPGTVKMGIEQNMCEVNRSFSLKESI
                     MKWLLFYQLEGDLENSTEVPPILHSNFPHLVLEKILVSLTMKNCKAAMNFFQSVPECEH
                     HQKDKEELSFSEVEELFLQTTFDKMDFLTIVRECGIEKHQSSIGFSVHQNLKESLDRCL
                     LGLSEQLLNNYSSEITNSETLVRCSRLLVGVLGCYCYMGVIAEEEAYKSELFQKAKSLM
                     QCAGESITLFKNKTNEEFRIGSLRNMMQLCTRCLSNCTKKSPNKIASGFFLRLLTSKLM
                     NDIADICKSLASFIKKPFDRGEVESMEDDTNGNLMEVEDQSSMNLFNDYPDSSVSDANE
                     PGESQSTIGAINPLAEEYLSKQDLLFLDMLKFLCLCVTTAQTNTVSFRAADIRRKLLML
                     IDSSTLEPTKSLHLHMYLMLLKELPGEEYPLPMEDVLELLKPLSNVCSLYRRDQDVCKT
                     ILNHVLHVVKNLGQSNMDSENTRDAQGQFLTVIGAFWHLTKERKYIFSVRMALVNCLKT
                     LLEADPYSKWAILNVMGKDFPVNEVFTQFLADNHHQVRMLAAESINRLFQDTKGDSSRL
                     LKALPLKLQQTAFENAYLKAQEGMREMSHSAENPETLDEIYNRKSVLLTLIAVVLSCSP
                     ICEKQALFALCKSVKENGLEPHLVKKVLEKVSETFGYRRLEDFMASHLDYLVLEWLNLQ
                     DTEYNLSSFPFILLNYTNIEDFYRSCYKVLIPHLVIRSHFDEVKSIANQIQEDWKSLLT
                     DCFPKILVNILPYFAYEGTRDSGMAQQRETATKVYDMLKSENLLGKQIDHLFISNLPEI
                     VVELLMTLHEPANSSASQSTDLCDFSGDLDPAPNPPHFPSHVIKATFAYISNCHKTKLK
                     SILEILSKSPDSYQKILLAICEQAAETNNVYKKHRILKIYHLFVSLLLKDIKSGLGGAW
                     AFVLRDVIYTLIHYINQRPSCIMDVSLRSFSLCCDLLSQVCQTAVTYCKDALENHLHVI
                     VGTLIPLVYEQVEVQKQVLDLLKYLVIDNKDNENLYITIKLLDPFPDHVVFKDLRITQQ
                     KIKYSRGPFSLLEEINHFLSVSVYDALPLTRLEGLKDLRRQLELHKDQMVDIMRASQDN
                     PQDGIMVKLVVNLLQLSKMAINHTGEKEVLEAVGSCLGEVGPIDFSTIAIQHSKDASYT
                     KALKLFEDKELQWTFIMLTYLNNTLVEDCVKVRSAAVTCLKNILATKTGHSFWEIYKMT
                     TDPMLAYLQPFRTSRKKFLEVPRFDKENPFEGLDDINLWIPLSENHDIWIKTLTCAFLD
                     SGGTKCEILQLLKPMCEVKTDFCQTVLPYLIHDILLQDTNESWRNLLSTHVQGFFTSCL
                     RHFSQTSRSTTPANLDSESEHFFRCCLDKKSQRTMLAVVDYMRRQKRPSSGTIFNDAFW
                     LDLNYLEVAKVAQSCAAHFTALLYAEIYADKKSMDDQEKRSLAFEEGSQSTTISSLSEK
                     SKEETGISLQDLLLEIYRSIGEPDSLYGCGGGKMLQPITRLRTYEHEAMWGKALVTYDL
                     ETAIPSSTRQAGIIQALQNLGLCHILSVYLKGLDYENKDWCPELEELHYQAAWRNMQWD
                     HCTSVSKEVEGTSYHESLYNALQSLRDREFSTFYESLKYARVKEVEEMCKRSLESVYSL
                     YPTLSRLQAIGELESIGELFSRSVTHRQLSEVYIKWQKHSQLLKDSDFSFQEPIMALRT
                     VILEILMEKEMDNSQRECIKDILTKHLVELSILARTFKNTQLPERAIFQIKQYNSVSCG
                     VSEWQLEEAQVFWAKKEQSLALSILKQMIKKLDASCAANNPSLKLTYTECLRVCGNWLA
                     ETCLENPAVIMQTYLEKAVEVAGNYDGESSDELRNGKMKAFLSLARFSDTQYQRIENYM
                     KSSEFENKQALLKRAKEEVGLLREHKIQTNRYTVKVQRELELDELALRALKEDRKRFLC
                     KAVENYINCLLSGEEHDMWVFRLCSLWLENSGVSEVNGMMKRDGMKIPTYKFLPLMYQL
                     AARMGTKMMGGLGFHEVLNNLISRISMDHPHHTLFIILALANANRDEFLTKPEVARRSR
                     ITKNVPKQSSQLDEDRTEAANRIICTIRSRRPQMVRSVEALCDAYIILANLDATQWKTQ
                     RKGINIPADQPITKLKNLEDVVVPTMEIKVDHTGEYGNLVTIQSFKAEFRLAGGVNLPK
                     IIDCVGSDGKERRQLVKGRDDLRQDAVMQQVFQMCNTLLQRNTETRKRKLTICTYKVVP
                     LSQRSGVLEWCTGTVPIGEFLVNNEDGAHKRYRPNDFSAFQCQKKMMEVQKKSFEEKYE
                     VFMDVCQNFQPVFRYFCMEKFLDPAIWFEKRLAYTRSVATSSIVGYILGLGDRHVQNIL
                     INEQSAELVHIDLGVAFEQGKILPTPETVPFRLTRDIVDGMGITGVEGVFRRCCEKTME
                     VMRNSQETLLTIVEVLLYDPLFDWTMNPLKALYLQQRPEDETELHPTLNADDQECKRNL
                     SDIDQSFNKVAERVLMRLQEKLKGVEEGTVLSVGGQVNLLIQQAIDPKNLSRLFPGWKA
                     WV"
     misc_feature    154..156
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (Q13315.4); acetylation site"
     misc_feature    1249..1251
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /note="Phosphoserine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:16858402; propagated from
                     UniProtKB/Swiss-Prot (Q13315.4); phosphorylation site"
     misc_feature    4267..4296
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13315.4);
                     Region: Interaction with ABL1.
                     /evidence=ECO:0000269|PubMed:9168117"
     misc_feature    5827..5829
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /note="Phosphoserine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:16858402; propagated from
                     UniProtKB/Swiss-Prot (Q13315.4); phosphorylation site"
     misc_feature    6091..6093
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /note="Phosphoserine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:12556884,
                     ECO:0000269|PubMed:16141325, ECO:0000269|PubMed:16858402,
                     ECO:0000269|PubMed:21144835, ECO:0000269|PubMed:30944854,
                     ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (Q13315.4); phosphorylation site"
     misc_feature    6097..6099
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (Q13315.4); phosphorylation site"
     misc_feature    8224..8244
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13315.4);
                     Region: G-loop.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00269"
     misc_feature    8749..8775
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13315.4);
                     Region: Catalytic loop.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00269"
     misc_feature    8809..8883
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13315.4);
                     Region: Activation loop.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00269"
     misc_feature    9136..9138
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q13315.4); phosphorylation site"
     misc_feature    9196..9198
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:17923702,
                     ECO:0000269|PubMed:30944854; propagated from
                     UniProtKB/Swiss-Prot (Q13315.4); acetylation site"
     misc_feature    9286..9294
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13315.4);
                     Region: Microbody targeting signal, atypical.
                     /evidence=ECO:0000269|PubMed:26344566"
     regulatory      12894..12899
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /note="hexamer: AATAAA"
     polyA_site      12915
                     /gene="ATM"
                     /gene_synonym="AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1"
                     /note="major polyA site"
ORIGIN
        1 aggtagctgc gtggctaacg gagaaaagaa gccgtggccg cgggaggagg cgagaggagt
       61 cgggatctgc gctgcagcca ccgccgcggt tgatactact ttgaccttcc gagtgcagtg
      121 acagtgatgt gtgttctgaa attgtgaacc atgagtctag tacttaatga tctgcttatc
      181 tgctgccgtc aactagaaca tgatagagct acagaacgaa agaaagaagt tgagaaattt
      241 aagcgcctga ttcgagatcc tgaaacaatt aaacatctag atcggcattc agattccaaa
      301 caaggaaaat atttgaattg ggatgctgtt tttagatttt tacagaaata tattcagaaa
      361 gaaacagaat gtctgagaat agcaaaacca aatgtatcag cctcaacaca agcctccagg
      421 cagaaaaaga tgcaggaaat cagtagtttg gtcaaatact tcatcaaatg tgcaaacaga
      481 agagcaccta ggctaaaatg tcaagaactc ttaaattata tcatggatac agtgaaagat
      541 tcatctaatg gtgctattta cggagctgat tgtagcaaca tactactcaa agacattctt
      601 tctgtgagaa aatactggtg tgaaatatct cagcaacagt ggttagaatt gttctctgtg
      661 tacttcaggc tctatctgaa accttcacaa gatgttcata gagttttagt ggctagaata
      721 attcatgctg ttaccaaagg atgctgttct cagactgacg gattaaattc caaatttttg
      781 gacttttttt ccaaggctat tcagtgtgcg agacaagaaa agagctcttc aggtctaaat
      841 catatcttag cagctcttac tatcttcctc aagactttgg ctgtcaactt tcgaattcga
      901 gtgtgtgaat taggagatga aattcttccc actttgcttt atatttggac tcaacatagg
      961 cttaatgatt ctttaaaaga agtcattatt gaattatttc aactgcaaat ttatatccat
     1021 catccgaaag gagccaaaac ccaagaaaaa ggtgcttatg aatcaacaaa atggagaagt
     1081 attttataca acttatatga tctgctagtg aatgagataa gtcatatagg aagtagagga
     1141 aagtattctt caggatttcg taatattgcc gtcaaagaaa atttgattga attgatggca
     1201 gatatctgtc accaggtttt taatgaagat accagatcct tggagatttc tcaatcttac
     1261 actactacac aaagagaatc tagtgattac agtgtccctt gcaaaaggaa gaaaatagaa
     1321 ctaggctggg aagtaataaa agatcacctt cagaagtcac agaatgattt tgatcttgtg
     1381 ccttggctac agattgcaac ccaattaata tcaaagtatc ctgcaagttt acctaactgt
     1441 gagctgtctc cattactgat gatactatct cagcttctac cccaacagcg acatggggaa
     1501 cgtacaccat atgtgttacg atgccttacg gaagttgcat tgtgtcaaga caagaggtca
     1561 aacctagaaa gctcacaaaa gtcagattta ttaaaactct ggaataaaat ttggtgtatt
     1621 acctttcgtg gtataagttc tgagcaaata caagctgaaa actttggctt acttggagcc
     1681 ataattcagg gtagtttagt tgaggttgac agagaattct ggaagttatt tactgggtca
     1741 gcctgcagac cttcatgtcc tgcagtatgc tgtttgactt tggcactgac caccagtata
     1801 gttccaggaa cggtaaaaat gggaatagag caaaatatgt gtgaagtaaa tagaagcttt
     1861 tctttaaagg aatcaataat gaaatggctc ttattctatc agttagaggg tgacttagaa
     1921 aatagcacag aagtgcctcc aattcttcac agtaattttc ctcatcttgt actggagaaa
     1981 attcttgtga gtctcactat gaaaaactgt aaagctgcaa tgaatttttt ccaaagcgtg
     2041 ccagaatgtg aacaccacca aaaagataaa gaagaacttt cattctcaga agtagaagaa
     2101 ctatttcttc agacaacttt tgacaagatg gactttttaa ccattgtgag agaatgtggt
     2161 atagaaaagc accagtccag tattggcttc tctgtccacc agaatctcaa ggaatcactg
     2221 gatcgctgtc ttctgggatt atcagaacag cttctgaata attactcatc tgagattaca
     2281 aattcagaaa ctcttgtccg gtgttcacgt cttttggtgg gtgtccttgg ctgctactgt
     2341 tacatgggtg taatagctga agaggaagca tataagtcag aattattcca gaaagccaag
     2401 tctctaatgc aatgtgcagg agaaagtatc actctgttta aaaataagac aaatgaggaa
     2461 ttcagaattg gttccttgag aaatatgatg cagctatgta cacgttgctt gagcaactgt
     2521 accaagaaga gtccaaataa gattgcatct ggctttttcc tgcgattgtt aacatcaaag
     2581 ctaatgaatg acattgcaga tatttgtaaa agtttagcat ccttcatcaa aaagccattt
     2641 gaccgtggag aagtagaatc aatggaagat gatactaatg gaaatctaat ggaggtggag
     2701 gatcagtcat ccatgaatct atttaacgat taccctgata gtagtgttag tgatgcaaac
     2761 gaacctggag agagccaaag taccataggt gccattaatc ctttagctga agaatatctg
     2821 tcaaagcaag atctactttt cttagacatg ctcaagttct tgtgtttgtg tgtaactact
     2881 gctcagacca atactgtgtc ctttagggca gctgatattc ggaggaaatt gttaatgtta
     2941 attgattcta gcacgctaga acctaccaaa tccctccacc tgcatatgta tctaatgctt
     3001 ttaaaggagc ttcctggaga agagtacccc ttgccaatgg aagatgttct tgaacttctg
     3061 aaaccactat ccaatgtgtg ttctttgtat cgtcgtgacc aagatgtttg taaaactatt
     3121 ttaaaccatg tccttcatgt agtgaaaaac ctaggtcaaa gcaatatgga ctctgagaac
     3181 acaagggatg ctcaaggaca gtttcttaca gtaattggag cattttggca tctaacaaag
     3241 gagaggaaat atatattctc tgtaagaatg gccctagtaa attgccttaa aactttgctt
     3301 gaggctgatc cttattcaaa atgggccatt cttaatgtaa tgggaaaaga ctttcctgta
     3361 aatgaagtat ttacacaatt tcttgctgac aatcatcacc aagttcgcat gttggctgca
     3421 gagtcaatca atagattgtt ccaggacacg aagggagatt cttccaggtt actgaaagca
     3481 cttcctttga agcttcagca aacagctttt gaaaatgcat acttgaaagc tcaggaagga
     3541 atgagagaaa tgtcccatag tgctgagaac cctgaaactt tggatgaaat ttataataga
     3601 aaatctgttt tactgacgtt gatagctgtg gttttatcct gtagccctat ctgcgaaaaa
     3661 caggctttgt ttgccctgtg taaatctgtg aaagagaatg gattagaacc tcaccttgtg
     3721 aaaaaggttt tagagaaagt ttctgaaact tttggatata gacgtttaga agactttatg
     3781 gcatctcatt tagattatct ggttttggaa tggctaaatc ttcaagatac tgaatacaac
     3841 ttatcttctt ttccttttat tttattaaac tacacaaata ttgaggattt ctatagatct
     3901 tgttataagg ttttgattcc acatctggtg attagaagtc attttgatga ggtgaagtcc
     3961 attgctaatc agattcaaga ggactggaaa agtcttctaa cagactgctt tccaaagatt
     4021 cttgtaaata ttcttcctta ttttgcctat gagggtacca gagacagtgg gatggcacag
     4081 caaagagaga ctgctaccaa ggtctatgat atgcttaaaa gtgaaaactt attgggaaaa
     4141 cagattgatc acttattcat tagtaattta ccagagattg tggtggagtt attgatgacg
     4201 ttacatgagc cagcaaattc tagtgccagt cagagcactg acctctgtga cttttcaggg
     4261 gatttggatc ctgctcctaa tccacctcat tttccatcgc atgtgattaa agcaacattt
     4321 gcctatatca gcaattgtca taaaaccaag ttaaaaagca ttttagaaat tctttccaaa
     4381 agccctgatt cctatcagaa aattcttctt gccatatgtg agcaagcagc tgaaacaaat
     4441 aatgtttata agaagcacag aattcttaaa atatatcacc tgtttgttag tttattactg
     4501 aaagatataa aaagtggctt aggaggagct tgggcctttg ttcttcgaga cgttatttat
     4561 actttgattc actatatcaa ccaaaggcct tcttgtatca tggatgtgtc attacgtagc
     4621 ttctcccttt gttgtgactt attaagtcag gtttgccaga cagccgtgac ttactgtaag
     4681 gatgctctag aaaaccatct tcatgttatt gttggtacac ttatacccct tgtgtatgag
     4741 caggtggagg ttcagaaaca ggtattggac ttgttgaaat acttagtgat agataacaag
     4801 gataatgaaa acctctatat cacgattaag cttttagatc cttttcctga ccatgttgtt
     4861 tttaaggatt tgcgtattac tcagcaaaaa atcaaataca gtagaggacc cttttcactc
     4921 ttggaggaaa ttaaccattt tctctcagta agtgtttatg atgcacttcc attgacaaga
     4981 cttgaaggac taaaggatct tcgaagacaa ctggaactac ataaagatca gatggtggac
     5041 attatgagag cttctcagga taatccgcaa gatgggatta tggtgaaact agttgtcaat
     5101 ttgttgcagt tatccaagat ggcaataaac cacactggtg aaaaagaagt tctagaggct
     5161 gttggaagct gcttgggaga agtgggtcct atagatttct ctaccatagc tatacaacat
     5221 agtaaagatg catcttatac caaggccctt aagttatttg aagataaaga acttcagtgg
     5281 accttcataa tgctgaccta cctgaataac acactggtag aagattgtgt caaagttcga
     5341 tcagcagctg ttacctgttt gaaaaacatt ttagccacaa agactggaca tagtttctgg
     5401 gagatttata agatgacaac agatccaatg ctggcctatc tacagccttt tagaacatca
     5461 agaaaaaagt ttttagaagt acccagattt gacaaagaaa acccttttga aggcctggat
     5521 gatataaatc tgtggattcc tctaagtgaa aatcatgaca tttggataaa gacactgact
     5581 tgtgcttttt tggacagtgg aggcacaaaa tgtgaaattc ttcaattatt aaagccaatg
     5641 tgtgaagtga aaactgactt ttgtcagact gtacttccat acttgattca tgatatttta
     5701 ctccaagata caaatgaatc atggagaaat ctgctttcta cacatgttca gggatttttc
     5761 accagctgtc ttcgacactt ctcgcaaacg agccgatcca caacccctgc aaacttggat
     5821 tcagagtcag agcacttttt ccgatgctgt ttggataaaa aatcacaaag aacaatgctt
     5881 gctgttgtgg actacatgag aagacaaaag agaccttctt caggaacaat ttttaatgat
     5941 gctttctggc tggatttaaa ttatctagaa gttgccaagg tagctcagtc ttgtgctgct
     6001 cactttacag ctttactcta tgcagaaatc tatgcagata agaaaagtat ggatgatcaa
     6061 gagaaaagaa gtcttgcatt tgaagaagga agccagagta caactatttc tagcttgagt
     6121 gaaaaaagta aagaagaaac tggaataagt ttacaggatc ttctcttaga aatctacaga
     6181 agtatagggg agccagatag tttgtatggc tgtggtggag ggaagatgtt acaacccatt
     6241 actagactac gaacatatga acacgaagca atgtggggca aagccctagt aacatatgac
     6301 ctcgaaacag caatcccctc atcaacacgc caggcaggaa tcattcaggc cttgcagaat
     6361 ttgggactct gccatattct ttccgtctat ttaaaaggat tggattatga aaataaagac
     6421 tggtgtcctg aactagaaga acttcattac caagcagcat ggaggaatat gcagtgggac
     6481 cattgcactt ccgtcagcaa agaagtagaa ggaaccagtt accatgaatc attgtacaat
     6541 gctctacaat ctctaagaga cagagaattc tctacatttt atgaaagtct caaatatgcc
     6601 agagtaaaag aagtggaaga gatgtgtaag cgcagccttg agtctgtgta ttcgctctat
     6661 cccacactta gcaggttgca ggccattgga gagctggaaa gcattgggga gcttttctca
     6721 agatcagtca cacatagaca actctctgaa gtatatatta agtggcagaa acactcccag
     6781 cttctcaagg acagtgattt tagttttcag gagcctatca tggctctacg cacagtcatt
     6841 ttggagatcc tgatggaaaa ggaaatggac aactcacaaa gagaatgtat taaggacatt
     6901 ctcaccaaac accttgtaga actctctata ctggccagaa ctttcaagaa cactcagctc
     6961 cctgaaaggg caatatttca aattaaacag tacaattcag ttagctgtgg agtctctgag
     7021 tggcagctgg aagaagcaca agtattctgg gcaaaaaagg agcagagtct tgccctgagt
     7081 attctcaagc aaatgatcaa gaagttggat gccagctgtg cagcgaacaa tcccagccta
     7141 aaacttacat acacagaatg tctgagggtt tgtggcaact ggttagcaga aacgtgctta
     7201 gaaaatcctg cggtcatcat gcagacctat ctagaaaagg cagtagaagt tgctggaaat
     7261 tatgatggag aaagtagtga tgagctaaga aatggaaaaa tgaaggcatt tctctcatta
     7321 gcccggtttt cagatactca ataccaaaga attgaaaact acatgaaatc atcggaattt
     7381 gaaaacaagc aagctctcct gaaaagagcc aaagaggaag taggtctcct tagggaacat
     7441 aaaattcaga caaacagata cacagtaaag gttcagcgag agctggagtt ggatgaatta
     7501 gccctgcgtg cactgaaaga ggatcgtaaa cgcttcttat gtaaagcagt tgaaaattat
     7561 atcaactgct tattaagtgg agaagaacat gatatgtggg tattccgact ttgttccctc
     7621 tggcttgaaa attctggagt ttctgaagtc aatggcatga tgaagagaga cggaatgaag
     7681 attccaacat ataaattttt gcctcttatg taccaattgg ctgctagaat ggggaccaag
     7741 atgatgggag gcctaggatt tcatgaagtc ctcaataatc taatctctag aatttcaatg
     7801 gatcaccccc atcacacttt gtttattata ctggccttag caaatgcaaa cagagatgaa
     7861 tttctgacta aaccagaggt agccagaaga agcagaataa ctaaaaatgt gcctaaacaa
     7921 agctctcagc ttgatgagga tcgaacagag gctgcaaata gaataatatg tactatcaga
     7981 agtaggagac ctcagatggt cagaagtgtt gaggcacttt gtgatgctta tattatatta
     8041 gcaaacttag atgccactca gtggaagact cagagaaaag gcataaatat tccagcagac
     8101 cagccaatta ctaaacttaa gaatttagaa gatgttgttg tccctactat ggaaattaag
     8161 gtggaccaca caggagaata tggaaatctg gtgactatac agtcatttaa agcagaattt
     8221 cgcttagcag gaggtgtaaa tttaccaaaa ataatagatt gtgtaggttc cgatggcaag
     8281 gagaggagac agcttgttaa gggccgtgat gacctgagac aagatgctgt catgcaacag
     8341 gtcttccaga tgtgtaatac attactgcag agaaacacgg aaactaggaa gaggaaatta
     8401 actatctgta cttataaggt ggttcccctc tctcagcgaa gtggtgttct tgaatggtgc
     8461 acaggaactg tccccattgg tgaatttctt gttaacaatg aagatggtgc tcataaaaga
     8521 tacaggccaa atgatttcag tgcctttcag tgccaaaaga aaatgatgga ggtgcaaaaa
     8581 aagtcttttg aagagaaata tgaagtcttc atggatgttt gccaaaattt tcaaccagtt
     8641 ttccgttact tctgcatgga aaaattcttg gatccagcta tttggtttga gaagcgattg
     8701 gcttatacgc gcagtgtagc tacttcttct attgttggtt acatacttgg acttggtgat
     8761 agacatgtac agaatatctt gataaatgag cagtcagcag aacttgtaca tatagatcta
     8821 ggtgttgctt ttgaacaggg caaaatcctt cctactcctg agacagttcc ttttagactc
     8881 accagagata ttgtggatgg catgggcatt acgggtgttg aaggtgtctt cagaagatgc
     8941 tgtgagaaaa ccatggaagt gatgagaaac tctcaggaaa ctctgttaac cattgtagag
     9001 gtccttctat atgatccact ctttgactgg accatgaatc ctttgaaagc tttgtattta
     9061 cagcagaggc cggaagatga aactgagctt caccctactc tgaatgcaga tgaccaagaa
     9121 tgcaaacgaa atctcagtga tattgaccag agtttcaaca aagtagctga acgtgtctta
     9181 atgagactac aagagaaact gaaaggagtg gaagaaggca ctgtgctcag tgttggtgga
     9241 caagtgaatt tgctcataca gcaggccata gaccccaaaa atctcagccg acttttccca
     9301 ggatggaaag cttgggtgtg atcttcagta tatgaattac cctttcattc agcctttaga
     9361 aattatattt tagcctttat ttttaacctg ccaacatact ttaagtaggg attaatattt
     9421 aagtgaacta ttgtgggttt ttttgaatgt tggttttaat acttgattta atcaccactc
     9481 aaaaatgttt tgatggtctt aaggaacatc tctgctttca ctctttagaa ataatggtca
     9541 ttcgggctgg gcgcagcggc tcacgcctgt aatcccagca ctttgggagg ccgaggtgag
     9601 cggatcacaa ggtcaggagt tcgagaccag cctggccaag agaccagcct ggccagtatg
     9661 gtgaaaccct gtctctacta aaaatacaaa aattagccga gcatggtggc gggcacctgt
     9721 aatcccagct actcgagagg ctgaggcagg agaatctctt gaacctggga ggtgaaggtt
     9781 gctgtgggcc aaaatcatgc cattgcactc cagcctgggt gacaagagcg aaactccatc
     9841 tcaaaaaaaa aaaaaaaaaa acagaaacgt atttggattt ttcctagtaa gatcactcag
     9901 tgttactaaa taatgaagtt gttatggaga acaaatttca aagacacagt tagtgtagtt
     9961 actatttttt taagtgtgta ttaaaacttc tcattctatt ctctttatct tttaagccct
    10021 tctgtactgt ccatgtatgt tatctttctg tgataacttc atagattgcc ttctagttca
    10081 tgaattctct tgtcagatgt atataatctc ttttacccta tccattgggc ttcttctttc
    10141 agaaattgtt tttcatttct aattatgcat catttttcag atctctgttt cttgatgtca
    10201 tttttaatgt ttttttaatg ttttttatgt cactaattat tttaaatgtc tgtacttgat
    10261 agacactgta atagttctat taaatttagt tcctgctgtt tatatctgtt gatttttgta
    10321 tttgataggc tgttcatcca gttttgtctt tttgaaaagt gagtttattt tcagcaaggc
    10381 tttatctatg ggaatcttga gtgtctgttt atgtcatatt cccagggctg ttgctgcaca
    10441 caagcccatt cttattttaa tttcttggct ttagggtttc catacctgaa gtgtagcata
    10501 aatactgata ggagatttcc caggccaagg caaacacact tcctcctcat ctccttgtgc
    10561 tagtgggcag aatatttgat tgatgccttt ttcactgaga gtataagctt ccatgtgtcc
    10621 cacctttatg gcaggggtgg aaggaggtac atttaattcc cactgcctgc ctttggcaag
    10681 ccctgggttc tttgctcccc atatagatgt ctaagctaaa agccgtgggt taatgagact
    10741 ggcaaattgt tccaggacag ctacagcatc agctcacata ttcacctctc tggtttttca
    10801 ttcccctcat ttttttctga gacagagtct tgctctgtca cccaggctgg agtgcagtgg
    10861 catgatctca gctcactgaa acctctgcct cctgggttca agcaattctc ctgcctcagc
    10921 ctcccgagta gctgggacta caggcgtgtg ccaacacgcc cggctaattt tttgtatttt
    10981 tattagagac ggagtttcac cgtgttagcc aggatggtct cgatcgcttg acctcgtgat
    11041 ccaccctcct cggcctccca aagtgctggg attacaggtg tgagccaccg cgcccggcct
    11101 cattcccctc atttttgacc gtaaggattt cccctttctt gtaagttctg ctatgtattt
    11161 aaaagaatgt tttctacatt ttatccagca tttctctgtg ttctgttgga agggaagggc
    11221 ttaggtatct agtttgatac ataggtagaa gtggaacatt tctctgtccc ccagctgtca
    11281 tcatataaga taaacatcag ataaaaagcc acctgaaagt aaaactactg actcgtgtat
    11341 tagtgagtat aatctcttct ccatccttag gaaaatgttc atcccagctg cggagattaa
    11401 caaatgggtg attgagcttt ctcctcgtat ttggaccttg aaggttatat aaattttttt
    11461 cttatgaaga gttggcattt ctttttattg ccaatggcag gcactcattc atatttgatc
    11521 tcctcacctt cccctcccct aaaaccaatc tccagaactt tttggactat aaatttcttg
    11581 gtttgacttc tggagaactg ttcagaatat tactttgcat ttcaaattac aaacttacct
    11641 tggtgtatct ttttcttaca agctgcctaa atgaatattt ggtatatatt ggtagtttta
    11701 ttactatagt aaatcaagga aatgcagtaa acttaaaatg tctttaagaa agccctgaaa
    11761 tcttcatggg tgaaattaga aattatcaac tagataatag tatagataaa tgaatttgta
    11821 gctaattctt gctagttgtt gcatccagag agctttgaat aacatcatta atctactctt
    11881 tagccttgca tggtatgcta tgaggctcct gttctgttca agtattctaa tcaatggctt
    11941 tgaaaagttt atcaaattta catacagatc acaagcctag gagaaataac taattcacag
    12001 atgacagaat taagattata aaagattttt tttttgtaat tttagtagag acagggttgc
    12061 cattgtattc cagccttggc gacagagcaa gactctgcct caaaaaaaaa aaaaaaaagg
    12121 ttttggcaag ctggaactct ttctgcaaat gactaagata gaaaactgcc aaggacaaat
    12181 gaggagtagt tagattttga aaatattaat catagaatag ttgttgtatg ctaagtcact
    12241 gacccatatt atgtacagca tttctgatct ttactttgca agattagtga tactatccca
    12301 atacactgct ggagaaatca gaatttggag aaataagttg tccaaggcaa gaagatagta
    12361 aattataagt acaagtgtaa tatggacagt atctaacttg aaaagatttc aggcgaaaag
    12421 aatctggggt ttgccagtca gttgctcaaa aggtcaatga aaaccaaata gtgaagctat
    12481 cagagaagct aataaattat agactgcttg aacagttgtg tccagattaa gggagataat
    12541 agctttccca ccctactttg tgcaggtcat acctccccaa agtgtttacc taatcagtag
    12601 gttcacaaac tcttggtcat tatagtatat gcctaaaatg tatgcactta ggaatgctaa
    12661 aaatttaaat atggtctaaa gcaaataaaa gcaaagagga aaaactttgg acagcgtaaa
    12721 gactagaata gtcttttaaa aagaaagcca gtatattggt ttgaaatata gagatgtgtc
    12781 ccaatttcaa gtattttaat tgcaccttaa tgaaattatc tattttctat agattttagt
    12841 actattgaat gtattacttt actgttacct gaatttatta taaagtgttt ttgaataaat
    12901 aattctaaaa gcata
//
LOCUS       NM_000052               8492 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens ATPase copper transporting alpha (ATP7A), transcript
            variant 1, mRNA.
ACCESSION   NM_000052
VERSION     NM_000052.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8492)
  AUTHORS   Wang Z, Chen Q, Wang Y, Liu L and Li C.
  TITLE     [Clinical and genetic analysis of three children with Menkes disease
            due to variants of ATP7A gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (6), 668-673 (2023)
   PUBMED   37212000
  REMARK    GeneRIF: [Clinical and genetic analysis of three children with
            Menkes disease due to variants of ATP7A gene].
REFERENCE   2  (bases 1 to 8492)
  AUTHORS   Kaler SG.
  TITLE     ATP7A-related copper transport diseases-emerging concepts and future
            trends
  JOURNAL   Nat Rev Neurol 7 (1), 15-29 (2011)
   PUBMED   21221114
  REMARK    Review article
REFERENCE   3  (bases 1 to 8492)
  AUTHORS   Reddy MC, Majumdar S and Harris ED.
  TITLE     Evidence for a Menkes-like protein with a nuclear targeting sequence
  JOURNAL   Biochem J 350 Pt 3 (Pt 3), 855-863 (2000)
   PUBMED   10970802
REFERENCE   4  (bases 1 to 8492)
  AUTHORS   Reddy MC and Harris ED.
  TITLE     Multiple transcripts coding for the menkes gene: evidence for
            alternative splicing of Menkes mRNA
  JOURNAL   Biochem J 334 (Pt 1) (Pt 1), 71-77 (1998)
   PUBMED   9693104
REFERENCE   5  (bases 1 to 8492)
  AUTHORS   Dierick HA, Ambrosini L, Spencer J, Glover TW and Mercer JF.
  TITLE     Molecular structure of the Menkes disease gene (ATP7A)
  JOURNAL   Genomics 28 (3), 462-469 (1995)
   PUBMED   7490081
REFERENCE   6  (bases 1 to 8492)
  AUTHORS   Tumer Z, Vural B, Tonnesen T, Chelly J, Monaco AP and Horn N.
  TITLE     Characterization of the exon structure of the Menkes disease gene
            using vectorette PCR
  JOURNAL   Genomics 26 (3), 437-442 (1995)
   PUBMED   7607665
REFERENCE   7  (bases 1 to 8492)
  AUTHORS   Vulpe C, Levinson B, Whitney S, Packman S and Gitschier J.
  TITLE     Isolation of a candidate gene for Menkes disease and evidence that
            it encodes a copper-transporting ATPase
  JOURNAL   Nat Genet 3 (1), 7-13 (1993)
   PUBMED   8490659
  REMARK    Erratum:[Nat Genet 1993 Mar;3(3):273]
REFERENCE   8  (bases 1 to 8492)
  AUTHORS   Mercer JF, Livingston J, Hall B, Paynter JA, Begy C,
            Chandrasekharappa S, Lockhart P, Grimes A, Bhave M, Siemieniak D et
            al.
  TITLE     Isolation of a partial candidate gene for Menkes disease by
            positional cloning
  JOURNAL   Nat Genet 3 (1), 20-25 (1993)
   PUBMED   8490647
REFERENCE   9  (bases 1 to 8492)
  AUTHORS   Chelly J, Tumer Z, Tonnesen T, Petterson A, Ishikawa-Brush Y,
            Tommerup N, Horn N and Monaco AP.
  TITLE     Isolation of a candidate gene for Menkes disease that encodes a
            potential heavy metal binding protein
  JOURNAL   Nat Genet 3 (1), 14-19 (1993)
   PUBMED   8490646
REFERENCE   10  (bases 1 to 8492)
  AUTHORS   Kaler,S.G. and DiStasio,A.T.
  TITLE     ATP7A-Related Copper Transport Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301586
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L06133.1, SRR1803613.139233.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000341514.11/ ENSP00000345728.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356235.22, DB164588.1,
            L06476.1, AB117973.1, AK299449.1, AL645821.2 and BU753163.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000052.6.
            Summary: This gene encodes a transmembrane protein that functions
            in copper transport across membranes. This protein is localized to
            the trans Golgi network, where it is predicted to supply copper to
            copper-dependent enzymes in the secretory pathway. It relocalizes
            to the plasma membrane under conditions of elevated extracellular
            copper, and functions in the efflux of copper from cells. Mutations
            in this gene are associated with Menkes disease, X-linked distal
            spinal muscular atrophy, and occipital horn syndrome.
            Alternatively-spliced transcript variants have been observed.
            [provided by RefSeq, Aug 2013].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8492
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.1"
     gene            1..8492
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="ATPase copper transporting alpha"
                     /db_xref="GeneID:538"
                     /db_xref="HGNC:HGNC:869"
                     /db_xref="MIM:300011"
     misc_feature    132..134
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="upstream in-frame stop codon"
     CDS             165..4667
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /EC_number="7.2.2.8"
                     /note="isoform 1 is encoded by transcript variant 1; Menkes
                     disease-associated protein; copper pump 1;
                     copper-transporting ATPase 1; Cu++-transporting P-type
                     ATPase; ATPase, Cu++ transporting, alpha polypeptide"
                     /codon_start=1
                     /product="copper-transporting ATPase 1 isoform 1"
                     /protein_id="NP_000043.4"
                     /db_xref="CCDS:CCDS35339.1"
                     /db_xref="GeneID:538"
                     /db_xref="HGNC:HGNC:869"
                     /db_xref="MIM:300011"
                     /translation="MDPSMGVNSVTISVEGMTCNSCVWTIEQQIGKVNGVHHIKVSLEE
                     KNATIIYDPKLQTPKTLQEAIDDMGFDAVIHNPDPLPVLTDTLFLTVTASLTLPWDHIQ
                     STLLKTKGVTDIKIYPQKRTVAVTIIPSIVNANQIKELVPELSLDTGTLEKKSGACEDH
                     SMAQAGEVVLKMKVEGMTCHSCTSTIEGKIGKLQGVQRIKVSLDNQEATIVYQPHLISV
                     EEMKKQIEAMGFPAFVKKQPKYLKLGAIDVERLKNTPVKSSEGSQQRSPSYTNDSTATF
                     IIDGMHCKSCVSNIESTLSALQYVSSIVVSLENRSAIVKYNASSVTPESLRKAIEAVSP
                     GLYRVSITSEVESTSNSPSSSSLQKIPLNVVSQPLTQETVINIDGMTCNSCVQSIEGVI
                     SKKPGVKSIRVSLANSNGTVEYDPLLTSPETLRGAIEDMGFDATLSDTNEPLVVIAQPS
                     SEMPLLTSTNEFYTKGMTPVQDKEEGKNSSKCYIQVTGMTCASCVANIERNLRREEGIY
                     SILVALMAGKAEVRYNPAVIQPPMIAEFIRELGFGATVIENADEGDGVLELVVRGMTCA
                     SCVHKIESSLTKHRGILYCSVALATNKAHIKYDPEIIGPRDIIHTIESLGFEASLVKKD
                     RSASHLDHKREIRQWRRSFLVSLFFCIPVMGLMIYMMVMDHHFATLHHNQNMSKEEMIN
                     LHSSMFLERQILPGLSVMNLLSFLLCVPVQFFGGWYFYIQAYKALKHKTANMDVLIVLA
                     TTIAFAYSLIILLVAMYERAKVNPITFFDTPPMLFVFIALGRWLEHIAKGKTSEALAKL
                     ISLQATEATIVTLDSDNILLSEEQVDVELVQRGDIIKVVPGGKFPVDGRVIEGHSMVDE
                     SLITGEAMPVAKKPGSTVIAGSINQNGSLLICATHVGADTTLSQIVKLVEEAQTSKAPI
                     QQFADKLSGYFVPFIVFVSIATLLVWIVIGFLNFEIVETYFPGYNRSISRTETIIRFAF
                     QASITVLCIACPCSLGLATPTAVMVGTGVGAQNGILIKGGEPLEMAHKVKVVVFDKTGT
                     ITHGTPVVNQVKVLTESNRISHHKILAIVGTAESNSEHPLGTAITKYCKQELDTETLGT
                     CIDFQVVPGCGISCKVTNIEGLLHKNNWNIEDNNIKNASLVQIDASNEQSSTSSSMIID
                     AQISNALNAQQYKVLIGNREWMIRNGLVINNDVNDFMTEHERKGRTAVLVAVDDELCGL
                     IAIADTVKPEAELAIHILKSMGLEVVLMTGDNSKTARSIASQVGITKVFAEVLPSHKVA
                     KVKQLQEEGKRVAMVGDGINDSPALAMANVGIAIGTGTDVAIEAADVVLIRNDLLDVVA
                     SIDLSRKTVKRIRINFVFALIYNLVGIPIAAGVFMPIGLVLQPWMGSAAMAASSVSVVL
                     SSLFLKLYRKPTYESYELPARSQIGQKSPSEISVHVGIDDTSRNSPKLGLLDRIVNYSR
                     ASINSLLSDKRSLNSVVTSEPDKHSLLVGDFREDDDTAL"
     misc_feature    618..620
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    972..974
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    1143..1145
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    1179..1181
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    1221..1223
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70705; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    1233..1235
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    1248..1250
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64430; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    2124..2189
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04656.4);
                     transmembrane region"
     misc_feature    2220..2222
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q04656.4); glycosylation site"
     misc_feature    2307..2366
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04656.4);
                     transmembrane region"
     misc_feature    2388..2450
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04656.4);
                     transmembrane region"
     misc_feature    2508..2570
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04656.4);
                     transmembrane region"
     misc_feature    2973..3041
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04656.4);
                     transmembrane region"
     misc_feature    3087..3089
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q04656.4); glycosylation site"
     misc_feature    3132..3197
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04656.4);
                     transmembrane region"
     misc_feature    3798..3800
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P70705; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    4233..4286
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04656.4);
                     transmembrane region"
     misc_feature    4320..4379
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04656.4);
                     transmembrane region"
     misc_feature    4452..4454
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    4458..4460
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    4542..4544
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    4551..4553
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    4560..4562
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    4563..4568
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04656.4);
                     Region: Endocytosis signal.
                     /evidence=ECO:0000250|UniProtKB:Q64430"
     misc_feature    4569..4571
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    4581..4583
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    4590..4592
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64430; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    4620..4664
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04656.4);
                     Region: PDZD11-binding"
     misc_feature    4620..4622
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64430; propagated from
                     UniProtKB/Swiss-Prot (Q04656.4); phosphorylation site"
     misc_feature    4623..4628
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04656.4);
                     Region: Endocytosis signal.
                     /evidence=ECO:0000250|UniProtKB:Q64430"
     regulatory      8023..8028
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="hexamer: AATAAA"
     polyA_site      8045
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="major polyA site"
     regulatory      8474..8479
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="hexamer: ATTATA"
     polyA_site      8492
                     /gene="ATP7A"
                     /gene_synonym="DSMAX; MK; MNK; SMAX3"
                     /note="major polyA site"
ORIGIN
        1 aggagttgtt gctgccgccg ccgcagccgc agctactgtg acttctccga ttgtgtgagc
       61 tttgttggag cctgcgtacg tggatttatc gctgccacgg tctgcgtagc tccagaggtt
      121 taaccatagg atagagaaac caggaatgta atgaggaaat caaaatggat ccaagtatgg
      181 gtgtgaattc tgttaccatt tctgttgagg gtatgacttg caattcctgt gtttggacca
      241 ttgagcagca gattggaaaa gtgaatggtg tgcatcacat taaggtatca ctggaagaaa
      301 aaaatgcaac tattatttat gaccctaaac tacagactcc aaagacccta caggaagcta
      361 ttgatgacat gggctttgat gctgttatcc ataatcctga ccctctccct gttttaactg
      421 acaccttgtt tctgactgtt acggcgtcac tgactttgcc atgggaccat atccaaagca
      481 cattgctgaa gaccaagggt gtgacagaca ttaaaattta ccctcagaaa agaactgtag
      541 cagtgacaat aatcccttct atagtgaatg ccaatcagat aaaagagctg gttccagaac
      601 tcagtttaga tactgggaca ctggagaaaa agtcaggagc ttgtgaagat catagtatgg
      661 ctcaagctgg tgaagtcgtg ctgaagatga aagtggaagg gatgacctgc cattcatgta
      721 ctagcactat tgaaggaaaa attgggaaac tgcaaggtgt tcagcgaatt aaagtctccc
      781 tggacaatca agaagctact attgtttatc aacctcatct tatctcagta gaggaaatga
      841 aaaagcagat tgaagctatg ggctttccag catttgtcaa aaagcagccc aagtacctca
      901 aattgggagc tattgatgta gaacgtctaa agaacacacc agttaaatcc tcagaagggt
      961 cacagcaaag gagtccatca tataccaatg attcaacagc cactttcatc attgatggca
     1021 tgcattgtaa atcatgtgtg tcaaatattg aaagtacttt atctgcactc caatatgtaa
     1081 gcagcatagt agtttcttta gagaataggt ctgccattgt gaagtataat gcaagctcag
     1141 tcactccaga atccctgaga aaagcaatag aggctgtatc accggggcta tatagagtta
     1201 gtatcacaag tgaagttgag agtacctcaa actctccctc cagctcatct cttcagaaga
     1261 ttcctttgaa tgtagttagc cagcctctga cacaagaaac tgtgataaac attgatggca
     1321 tgacttgtaa ttcctgtgtg cagtctattg agggtgtcat atcaaaaaag ccaggtgtaa
     1381 aatccatacg agtctccctt gcaaatagca atgggactgt tgagtatgat cctctactaa
     1441 cctctccaga aacgttgaga ggagcaatag aagacatggg atttgatgct accttgtcag
     1501 acacgaatga gccgttggta gtaatagctc agccttcatc ggaaatgccg cttttgactt
     1561 caactaatga attttatact aaagggatga caccagttca agacaaggag gaaggaaaga
     1621 attcatctaa gtgttacata caggtcactg gcatgacttg cgcttcctgt gtagcaaaca
     1681 ttgaacggaa tttaaggcgg gaagaaggaa tatattctat acttgtggcc ctgatggctg
     1741 gcaaggcaga agtaaggtat aatcctgctg ttatacaacc cccaatgata gcagagttca
     1801 tccgagaact tggatttgga gccactgtga tagaaaatgc tgatgaagga gatggtgttt
     1861 tggaacttgt tgtgagggga atgacgtgtg cctcctgcgt acataaaata gagtctagtc
     1921 tcacaaaaca cagagggatc ctatactgct ccgtggccct ggcaaccaac aaagcacata
     1981 ttaaatatga cccagaaatt attggtccta gagatattat ccatacaatt gaaagcttag
     2041 gttttgaagc ttctttggtc aagaaggatc ggtcagcaag tcacttagat cataaacgag
     2101 aaataagaca atggagacgg tcttttcttg tgagtctgtt tttctgtatt cctgtaatgg
     2161 ggctgatgat atatatgatg gttatggacc accactttgc aactcttcac cataatcaaa
     2221 acatgagtaa agaagaaatg atcaaccttc attcttctat gttcctggag cgccagattc
     2281 ttccaggatt gtctgttatg aatttgctgt cctttttatt gtgtgtacct gtacagtttt
     2341 tcggaggctg gtacttctac attcaggctt ataaagcact gaagcataag acagcaaata
     2401 tggacgtact gattgtgctg gcaaccacca ttgcatttgc ctactctttg attattcttc
     2461 tagttgcaat gtatgagaga gccaaagtga accctattac tttctttgac acacccccta
     2521 tgctgtttgt gtttattgca ctaggccgat ggctggaaca tatagcaaag ggcaaaacat
     2581 cagaggctct tgcaaagtta atttcactac aagctacaga agcaactatt gtaactcttg
     2641 attctgataa tatcctcctc agtgaagaac aagtggatgt ggaacttgta caacgtggag
     2701 atatcattaa agtagttcca ggaggcaaat ttccagtgga tggtcgtgtt attgaaggac
     2761 attctatggt agatgagtcc ctcatcacag gggaggcaat gcctgtggct aagaaacctg
     2821 gcagcacagt gattgctggt tccattaacc agaacgggtc actgcttatc tgcgcaacac
     2881 atgttggagc agacacaacc ctttctcaaa ttgtcaaact tgtggaagag gcacaaacat
     2941 caaaggctcc tatccagcag tttgcagaca aactcagtgg ctattttgtt ccttttattg
     3001 tttttgtttc cattgccacc ctcttggtat ggattgtaat tggatttctg aattttgaaa
     3061 ttgtggaaac ctactttcct ggctacaata gaagtatctc ccgaacagaa acgataatac
     3121 gatttgcttt ccaagcctct atcacagttc tgtgtattgc atgtccctgt tcactgggac
     3181 tggccactcc aactgctgtg atggtgggta caggagtagg tgctcaaaat ggcatactaa
     3241 taaaaggtgg agagccattg gagatggctc ataaggtaaa ggtagtggta tttgataaga
     3301 ctggaaccat tactcacgga accccagtgg tgaatcaagt aaaggttcta actgaaagta
     3361 acagaatatc acaccataaa atcttggcca ttgtgggaac tgctgaaagt aacagtgaac
     3421 accctctagg aacagccata accaaatatt gcaaacagga gctggacact gaaaccttgg
     3481 gtacctgcat agatttccag gttgtgccag gctgtggtat tagctgtaaa gtcaccaata
     3541 ttgaaggctt gctacataag aataactgga atatagagga caataatatt aaaaatgcat
     3601 ccctggttca aattgatgcc agtaatgaac agtcatcaac ttcgtcttcc atgattattg
     3661 atgcccagat ctcaaatgct cttaatgctc agcagtataa agtcctcatt ggtaaccggg
     3721 agtggatgat tagaaatggt cttgtcatta ataacgatgt aaatgatttc atgactgaac
     3781 atgagagaaa aggtcggact gctgtattag tagcagttga tgatgagctg tgtggcttga
     3841 tagccattgc agacacagtg aagcctgaag cagaactggc tatccatatt ctgaaatcta
     3901 tgggcttaga agtagttctg atgactggag acaacagtaa aacagctaga tctattgctt
     3961 ctcaggttgg cattactaag gtgtttgctg aagttctacc ttctcacaag gttgctaaag
     4021 tgaagcaact tcaagaggag gggaaacggg tagcaatggt gggagatgga atcaatgact
     4081 ccccagctct ggcaatggct aatgtgggaa ttgctattgg cacaggcaca gatgtagcca
     4141 ttgaagcagc tgatgtggtt ttgataagga atgatcttct ggatgtagtg gcaagtattg
     4201 acttatcaag aaagacagtc aagaggattc ggataaattt tgtctttgct ctaatttata
     4261 atctggttgg aattcccata gctgctggag tttttatgcc cattggtttg gttttgcagc
     4321 cctggatggg atctgcagca atggctgctt catctgtttc tgtagtactt tcttctctct
     4381 tccttaaact ttacaggaaa ccaacttacg agagttatga actgcctgcc cggagccaga
     4441 taggacagaa gagtccttca gaaatcagcg ttcatgttgg aatagatgat acctcaagga
     4501 attctcctaa actgggtttg ctggaccgga ttgttaatta tagcagagcc tctataaact
     4561 cactactgtc tgataaacgc tccctaaaca gtgttgttac cagtgaacct gacaagcact
     4621 cactcctggt gggagacttc agggaagatg atgacactgc attataaaag gccatggaga
     4681 gtgctgccag tttaacttgt catgcactga cacagcattc atgatgttac cttcactttt
     4741 caaaatattg tagaaggatt tttctcatgc tcttatatta gggattctat ttgagttgcg
     4801 tttatctgtt ggcaaaaata tctttttcaa ggcatcagct ctgaacctag ctttatttaa
     4861 actgaatttc cagtatattt ttgttttcac taacaacaga taaggtagag cagtgaggtt
     4921 tacaacaagc cctacaatta gagattgctg aactgctgct aaagtgattt tttttttatt
     4981 tgaccaaaaa aaaaaaggcc caagaagaag aaaatgaaaa atttgaagat ttgagagcat
     5041 gaagatattc atgcttttga actcaaaata ttgaagatac tctcaagcct gtatccctgc
     5101 cccactgggg agcaatgact ttcaaagcac tgtgtataaa acatctagtt ttagaaggga
     5161 aacagttgaa actgtttaaa aatagatgtg ccttatttat tgcaggcttt ctttccccca
     5221 ttctccctgc atccttgtcc ttgcaggtgc ttttttagat gctccaatat gtcttctttt
     5281 gttattttct ttcgagctaa ccaagtttag gtggtttttc attgattaaa aataactgac
     5341 aactgttcta atattttgct cctttttaaa ttttgtagct caaaagacct taaaggtctg
     5401 tagggttccc tgcctcccat ctttccactg ttgtaaaaag tatatcaaat tattccttca
     5461 agtttcctag ctctgtgctc agtttcagtt cactcctgcc aagttggact ctaagttatt
     5521 cttcatgtag tctgctgatc tcagtctgga aacttaacat tatgagcctt ttctgctcaa
     5581 aaaattttca aagattaaaa ctattataca tatacaggtc atataaaatt acctggattc
     5641 actaaatttg tttgttgttg ttgttgttgt tgttgttgtt gttgagacag agtcttgttt
     5701 tgcagcccag gctggagtgc agtggcacca tcttggctca ctgcaacctc tgcctaccgg
     5761 attcaaggaa ttctccctgc ctcagcctcc tgagtagcta ggattacagg tgcctgccac
     5821 cacacccggc taattttcat atttttcagt agagacgggg tttcgccatg ttggctagcc
     5881 tggtcttaaa ctcctaacct caggtgatcc acccgccttg gcctcccaaa gtgctgggat
     5941 tacaggtgtg agcctccatg cccagcctaa atttgtattt tttgaattga gtataatcac
     6001 tttgctagta tatataattt aatagatttt atttatcttt tagtgtttca gataacctct
     6061 caaaaagact ttaaaataat gctattacac aaagctgcat ttaccaaaaa atacagtaaa
     6121 atcataatac agaaactaaa atttccctag gttatgacgc tttttagcta aatatatact
     6181 cttctctagt ttaaaacatt tgaacttgcc tagttagtgt ggttggcaaa tttaggagct
     6241 tgttcccatt gccaaatgga tttagaaatt cccttgtgag tgcctggtag ctaatacact
     6301 ggtcagagat ctggtacttg taagactatt taaatttctt tgttagttgc aagatggatt
     6361 tcatatgcag aatatgtaaa tgaagaggac tcataagtaa attcctaaca ttttgttccc
     6421 attaccagaa gcaaagctgc tgctaaccca acatctggca cataggattt gtactcggta
     6481 aatgttagtt cttttctccc cttgaggtca gtaataaata caaaaaaatc atttttctag
     6541 agcagagtct taaaatcagg tgggggtagg ggatggagtt cttcctttcc tacccctttt
     6601 ctcttttatc ctttcatata tacacatgca aagtttacaa ccttattcca tgctgtcttt
     6661 cagatttaga aaagatctaa tttctgtctc agctgtctta aagagagaac tgaagctttt
     6721 gatgaaggtg ctattaatct agaaaggcaa acccatttca ctgaaatatc aatgggtttg
     6781 catatctagg cccttttttt agaccaatgc ctatgccatc ctccatgctt tcagtttgag
     6841 ttttattatt tattatttta attccagtgg cccatcttat aatacaactt gtttcttcta
     6901 gaagacagag ctgatagggt aaatgttgaa aaaagaagca tgcctccttc tccctcccac
     6961 ccacctcaag cagttgaaca cagccagtta ttcttccatt attatgtgta ccttggagtc
     7021 atcctcttgg tcttgtattc atattgtggg acagtgggaa tagcagcttg tagtattgaa
     7081 ataatcaaag agataatttc agctcttaca acaagaacag aaaacatgct aattagaaaa
     7141 agtcctgctt taagtaatat gtagccacat ttgaatcctc taccacaagt cttttttgca
     7201 atcttgaact ttcattagct tcaaagagaa gctgtattta caggagaaag aggtgattat
     7261 ggagggaatc aaaaatactg ctttcagtta gtagctagct ttaagtcagg agttagtaat
     7321 gagaaatttt ataaatgtgt atttctgtgt attcacatac atatatatat acacacatat
     7381 atatgtacat acacatacat acatattacc atactgaagg gaaatggatt tatatttgaa
     7441 tttgatattt gaatatttga agttctctat ttatatttca tttatcactc ttctgtattc
     7501 actcagcaac catgccctta gtctgaagat aacaaggata ctttaatatc cagtgccggt
     7561 tcagactcac ctatgtggca ccttaaactt aaatatccaa agatgccttt tgaatttcaa
     7621 agattaaaac acagctagag tagtagtatt gtagtctcaa gatgtatggt gtgtcatttg
     7681 tgaaaataga aacgttattt ttcctagttt agtatcaaca ttttagaatg tcaaatttga
     7741 tgccttgtga acaagtaatt ttatattgtg ctttaatttt ttaaaaagta ttctttattc
     7801 atatgtatag aatgcttaaa atagcactgt agacaagatg tttccaaaac tttaagtgcg
     7861 catatctttt ctgtatacag cttaaaatca aaaatgtatg ttaagagaat tttttctatt
     7921 acttatggat catgctttaa aatgattttt cttgatattt attttactcc attttgtttt
     7981 tttctctggg tgaggcatct ggttactggt tattttaaaa agaataaaga cattcctgga
     8041 atcactcctt ttgggttttt gtttgttttg tttcttttct acatttttaa gtattatttt
     8101 acaaaataga aaaaatatag attcatgcca aattattacc tatttttaca ctaactttct
     8161 gcagtccctc catctggtat gagtaaccag atagagcaca aagcatgagt tcttgttctt
     8221 cagttaaaag agcttctttc acagtgttga taacaaatgc cttttgtagc caaaaccagg
     8281 cgtctcaacc ttacgttttt agttaaagaa atgtttagct aaacgttgtt gaacattgat
     8341 tgtttggtac cgaaaacagc agtggacgat gttgtgcaat atccatctac tgtagttaag
     8401 atattcagta gtttgttttt cataagcatg taattgatca tatttctgcc aaggatgtgc
     8461 cttcaacttt ataattatag tgttgtaaaa ta
//
LOCUS       NM_000053               6598 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens ATPase copper transporting beta (ATP7B), transcript
            variant 1, mRNA.
ACCESSION   NM_000053
VERSION     NM_000053.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6598)
  AUTHORS   Chakraborty K, Das S, Pal A, Maji S, Rai B, Gupta A and
            Bhattacharjee A.
  TITLE     Wilson disease-causing mutations in the carboxyl terminus of ATP7B
            regulates its localization and Golgi exit selectively in the
            unpolarized cells
  JOURNAL   Metallomics 15 (9) (2023)
   PUBMED   37660282
  REMARK    GeneRIF: Wilson disease-causing mutations in the carboxyl terminus
            of ATP7B regulates its localization and Golgi exit selectively in
            the unpolarized cells.
REFERENCE   2  (bases 1 to 6598)
  AUTHORS   Xue Z, Chen H, Yu L and Jiang P.
  TITLE     A Systematic Review and Meta-Analysis of the R778L Mutation in ATP7B
            With Wilson Disease in China
  JOURNAL   Pediatr Neurol 145, 135-147 (2023)
   PUBMED   37354629
  REMARK    GeneRIF: A Systematic Review and Meta-Analysis of the R778L Mutation
            in ATP7B With Wilson Disease in China.
REFERENCE   3  (bases 1 to 6598)
  AUTHORS   Stalke A, Behrendt A, Hennig F, Gohlke H, Buhl N, Reinkens T,
            Baumann U, Schlegelberger B, Illig T, Pfister ED and Skawran B.
  TITLE     Functional characterization of novel or yet uncharacterized ATP7B
            missense variants detected in patients with clinical Wilson's
            disease
  JOURNAL   Clin Genet 104 (2), 174-185 (2023)
   PUBMED   37157876
  REMARK    GeneRIF: Functional characterization of novel or yet uncharacterized
            ATP7B missense variants detected in patients with clinical Wilson's
            disease.
REFERENCE   4  (bases 1 to 6598)
  AUTHORS   Yang GM, Xu L, Wang RM, Tao X, Zheng ZW, Chang S, Ma D, Zhao C, Dong
            Y, Wu S, Guo J and Wu ZY.
  TITLE     Structures of the human Wilson disease copper transporter ATP7B
  JOURNAL   Cell Rep 42 (5), 112417 (2023)
   PUBMED   37074913
  REMARK    GeneRIF: Structures of the human Wilson disease copper transporter
            ATP7B.
REFERENCE   5  (bases 1 to 6598)
  AUTHORS   Petrukhin K, Lutsenko S, Chernov I, Ross BM, Kaplan JH and Gilliam
            TC.
  TITLE     Characterization of the Wilson disease gene encoding a P-type copper
            transporting ATPase: genomic organization, alternative splicing, and
            structure/function predictions
  JOURNAL   Hum Mol Genet 3 (9), 1647-1656 (1994)
   PUBMED   7833924
REFERENCE   6  (bases 1 to 6598)
  AUTHORS   Petrukhin K, Fischer SG, Pirastu M, Tanzi RE, Chernov I, Devoto M,
            Brzustowicz LM, Cayanis E, Vitale E, Russo JJ et al.
  TITLE     Mapping, cloning and genetic characterization of the region
            containing the Wilson disease gene
  JOURNAL   Nat Genet 5 (4), 338-343 (1993)
   PUBMED   8298640
REFERENCE   7  (bases 1 to 6598)
  AUTHORS   Bull PC, Thomas GR, Rommens JM, Forbes JR and Cox DW.
  TITLE     The Wilson disease gene is a putative copper transporting P-type
            ATPase similar to the Menkes gene
  JOURNAL   Nat Genet 5 (4), 327-337 (1993)
   PUBMED   8298639
  REMARK    Erratum:[Nat Genet 1994 Feb;6(2):214]
REFERENCE   8  (bases 1 to 6598)
  AUTHORS   Yamaguchi Y, Heiny ME and Gitlin JD.
  TITLE     Isolation and characterization of a human liver cDNA as a candidate
            gene for Wilson disease
  JOURNAL   Biochem Biophys Res Commun 197 (1), 271-277 (1993)
   PUBMED   8250934
REFERENCE   9  (bases 1 to 6598)
  AUTHORS   Weiss,K.H. and Schilsky,M.
  TITLE     Wilson Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301685
REFERENCE   10  (bases 1 to 6598)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U11700.1, SRR18074967.1465113.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000242839.10/ ENSP00000242839.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA125470.1, U11700.1,
            BC143976.1, AL162377.10 and BU682287.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000053.3.
            Summary: This gene is a member of the P-type cation transport
            ATPase family and encodes a protein with several membrane-spanning
            domains, an ATPase consensus sequence, a hinge domain, a
            phosphorylation site, and at least 2 putative copper-binding sites.
            This protein is a monomer, and functions as a copper-transporting
            ATPase which exports copper out of the cells, such as the efflux of
            hepatic copper into the bile. Alternate transcriptional splice
            variants, encoding different isoforms with distinct cellular
            localizations, have been characterized. Mutations in this gene have
            been associated with Wilson disease which is characterized by
            copper accumulation. [provided by RefSeq, Dec 2019].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6598
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.3"
     gene            1..6598
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="ATPase copper transporting beta"
                     /db_xref="GeneID:540"
                     /db_xref="HGNC:HGNC:870"
                     /db_xref="MIM:606882"
     CDS             114..4511
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /EC_number="7.2.2.8"
                     /note="isoform a is encoded by transcript variant 1;
                     copper-transporting ATPase 2; copper pump 2; ATPase, Cu++
                     transporting, beta polypeptide; Wilson disease-associated
                     protein; ATPase, Cu(2+)- transporting, beta polypeptide;
                     copper-transporting protein ATP7B"
                     /codon_start=1
                     /product="copper-transporting ATPase 2 isoform a"
                     /protein_id="NP_000044.2"
                     /db_xref="CCDS:CCDS41892.1"
                     /db_xref="GeneID:540"
                     /db_xref="HGNC:HGNC:870"
                     /db_xref="MIM:606882"
                     /translation="MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGYE
                     GGLDGLGPSSQVATSTVRILGMTCQSCVKSIEDRISNLKGIISMKVSLEQGSATVKYVP
                     SVVCLQQVCHQIGDMGFEASIAEGKAASWPSRSLPAQEAVVKLRVEGMTCQSCVSSIEG
                     KVRKLQGVVRVKVSLSNQEAVITYQPYLIQPEDLRDHVNDMGFEAAIKSKVAPLSLGPI
                     DIERLQSTNPKRPLSSANQNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIGQ
                     LLGVQSIQVSLENKTAQVKYDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRS
                     SSSHSPGSPPRNQVQGTCSTTLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTA
                     TVLYNPSVISPEELRAAIEDMGFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQE
                     VAPHTGRLPANHAPDILAKSPQSTRAVAPQKCFLQIKGMTCASCVSNIERNLQKEAGVL
                     SVLVALMAGKAEIKYDPEVIQPLEIAQFIQDLGFEAAVMEDYAGSDGNIELTITGMTCA
                     SCVHNIESKLTRTNGITYASVALATSKALVKFDPEIIGPRDIIKIIEEIGFHASLAQRN
                     PNAHHLDHKMEIKQWKKSFLCSLVFGIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSI
                     LNLIFFILCTFVQLLGGWYFYVQAYKSLRHRSANMDVLIVLATSIAYVYSLVILVVAVA
                     EKAERSPVTFFDTPPMLFVFIALGRWLEHLAKSKTSEALAKLMSLQATEATVVTLGEDN
                     LIIREEQVPMELVQRGDIVKVVPGGKFPVDGKVLEGNTMADESLITGEAMPVTKKPGST
                     VIAGSINAHGSVLIKATHVGNDTTLAQIVKLVEEAQMSKAPIQQLADRFSGYFVPFIII
                     MSTLTLVVWIVIGFIDFGVVQRYFPNPNKHISQTEVIIRFAFQTSITVLCIACPCSLGL
                     ATPTAVMVGTGVAAQNGILIKGGKPLEMAHKIKTVMFDKTGTITHGVPRVMRVLLLGDV
                     ATLPLRKVLAVVGTAEASSEHPLGVAVTKYCKEELGTETLGYCTDFQAVPGCGIGCKVS
                     NVEGILAHSERPLSAPASHLNEAGSLPAEKDAVPQTFSVLIGNREWLRRNGLTISSDVS
                     DAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQEAALAVHTLQSMGVDVVLITGDNRK
                     TARAIATQVGINKVFAEVLPSHKVAKVQELQNKGKKVAMVGDGVNDSPALAQADMGVAI
                     GTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRRIRINLVLALIYNLVGIPIAAGVF
                     MPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPDLERYEAQAHGHMKPLTASQVSV
                     HIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSRHSAAADDDGDKWSLLLNGRDE
                     EQYI"
     misc_feature    180..182
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P35670.4); phosphorylation site"
     misc_feature    801..860
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="propagated from UniProtKB/Swiss-Prot (P35670.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1077..1178
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="propagated from UniProtKB/Swiss-Prot (P35670.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1545..1547
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P35670.4); phosphorylation site"
     misc_feature    1554..1556
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64535; propagated from
                     UniProtKB/Swiss-Prot (P35670.4); phosphorylation site"
     misc_feature    2073..2138
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="propagated from UniProtKB/Swiss-Prot (P35670.4);
                     transmembrane region"
     misc_feature    2205..2264
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="propagated from UniProtKB/Swiss-Prot (P35670.4);
                     transmembrane region"
     misc_feature    2286..2348
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="propagated from UniProtKB/Swiss-Prot (P35670.4);
                     transmembrane region"
     misc_feature    2406..2468
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="propagated from UniProtKB/Swiss-Prot (P35670.4);
                     transmembrane region"
     misc_feature    2871..2939
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="propagated from UniProtKB/Swiss-Prot (P35670.4);
                     transmembrane region"
     misc_feature    3030..3095
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="propagated from UniProtKB/Swiss-Prot (P35670.4);
                     transmembrane region"
     misc_feature    4080..4133
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="propagated from UniProtKB/Swiss-Prot (P35670.4);
                     transmembrane region"
     misc_feature    4167..4226
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="propagated from UniProtKB/Swiss-Prot (P35670.4);
                     transmembrane region"
     misc_feature    4305..4307
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64535; propagated from
                     UniProtKB/Swiss-Prot (P35670.4); phosphorylation site"
     regulatory      6571..6576
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="hexamer: AATAAA"
     polyA_site      6598
                     /gene="ATP7B"
                     /gene_synonym="PWD; WC1; WD; WND"
                     /note="major polyA site"
ORIGIN
        1 ctcacactct gcgcctcctc tcccgggact ttaacacccc gctctcctcc accgaccagg
       61 tgaccttttg ctctgagcca gatcagagaa gaattcggtg tccgtgcggg acgatgcctg
      121 agcaggagag acagatcaca gccagagaag gggccagtcg gaaaatctta tctaagcttt
      181 ctttgcctac ccgtgcctgg gaaccagcaa tgaagaagag ttttgctttt gacaatgttg
      241 gctatgaagg tggtctggat ggcctgggcc cttcttctca ggtggccacc agcacagtca
      301 ggatcttggg catgacttgc cagtcatgtg tgaagtccat tgaggacagg atttccaatt
      361 tgaaaggcat catcagcatg aaggtttccc tggaacaagg cagtgccact gtgaaatatg
      421 tgccatcggt tgtgtgcctg caacaggttt gccatcaaat tggggacatg ggcttcgagg
      481 ccagcattgc agaaggaaag gcagcctcct ggccctcaag gtccttgcct gcccaggagg
      541 ctgtggtcaa gctccgggtg gagggcatga cctgccagtc ctgtgtcagc tccattgaag
      601 gcaaggtccg gaaactgcaa ggagtagtga gagtcaaagt ctcactcagc aaccaagagg
      661 ccgtcatcac ttatcagcct tatctcattc agcccgaaga cctcagggac catgtaaatg
      721 acatgggatt tgaagctgcc atcaagagca aagtggctcc cttaagcctg ggaccaattg
      781 atattgagcg gttacaaagc actaacccaa agagaccttt atcttctgct aaccagaatt
      841 ttaataattc tgagaccttg gggcaccaag gaagccatgt ggtcaccctc caactgagaa
      901 tagatggaat gcattgtaag tcttgcgtct tgaatattga agaaaatatt ggccagctcc
      961 taggggttca aagtattcaa gtgtccttgg agaacaaaac tgcccaagta aagtatgacc
     1021 cttcttgtac cagcccagtg gctctgcaga gggctatcga ggcacttcca cctgggaatt
     1081 ttaaagtttc tcttcctgat ggagccgaag ggagtgggac agatcacagg tcttccagtt
     1141 ctcattcccc tggctcccca ccgagaaacc aggtccaggg cacatgcagt accactctga
     1201 ttgccattgc cggcatgacc tgtgcatcct gtgtccattc cattgaaggc atgatctccc
     1261 aactggaagg ggtgcagcaa atatcggtgt ctttggccga agggactgca acagttcttt
     1321 ataatccctc tgtaattagc ccagaagaac tcagagctgc tatagaagac atgggatttg
     1381 aggcttcagt cgtttctgaa agctgttcta ctaaccctct tggaaaccac agtgctggga
     1441 attccatggt gcaaactaca gatggtacac ctacatctgt gcaggaagtg gctccccaca
     1501 ctgggaggct ccctgcaaac catgccccgg acatcttggc aaagtcccca caatcaacca
     1561 gagcagtggc accgcagaag tgcttcttac agatcaaagg catgacctgt gcatcctgtg
     1621 tgtctaacat agaaaggaat ctgcagaaag aagctggtgt tctctccgtg ttggttgcct
     1681 tgatggcagg aaaggcagag atcaagtatg acccagaggt catccagccc ctcgagatag
     1741 ctcagttcat ccaggacctg ggttttgagg cagcagtcat ggaggactac gcaggctccg
     1801 atggcaacat tgagctgaca atcacaggga tgacctgcgc gtcctgtgtc cacaacatag
     1861 agtccaaact cacgaggaca aatggcatca cttatgcctc cgttgccctt gccaccagca
     1921 aagcccttgt taagtttgac ccggaaatta tcggtccacg ggatattatc aaaattattg
     1981 aggaaattgg ctttcatgct tccctggccc agagaaaccc caacgctcat cacttggacc
     2041 acaagatgga aataaagcag tggaagaagt ctttcctgtg cagcctggtg tttggcatcc
     2101 ctgtcatggc cttaatgatc tatatgctga tacccagcaa cgagccccac cagtccatgg
     2161 tcctggacca caacatcatt ccaggactgt ccattctaaa tctcatcttc tttatcttgt
     2221 gtacctttgt ccagctcctc ggtgggtggt acttctacgt tcaggcctac aaatctctga
     2281 gacacaggtc agccaacatg gacgtgctca tcgtcctggc cacaagcatt gcttatgttt
     2341 attctctggt catcctggtg gttgctgtgg ctgagaaggc ggagaggagc cctgtgacat
     2401 tcttcgacac gccccccatg ctctttgtgt tcattgccct gggccggtgg ctggaacact
     2461 tggcaaagag caaaacctca gaagccctgg ctaaactcat gtctctccaa gccacagaag
     2521 ccaccgttgt gacccttggt gaggacaatt taatcatcag ggaggagcaa gtccccatgg
     2581 agctggtgca gcggggcgat atcgtcaagg tggtccctgg gggaaagttt ccagtggatg
     2641 ggaaagtcct ggaaggcaat accatggctg atgagtccct catcacagga gaagccatgc
     2701 cagtcactaa gaaacccgga agcactgtaa ttgcggggtc tataaatgca catggctctg
     2761 tgctcattaa agctacccac gtgggcaatg acaccacttt ggctcagatt gtgaaactgg
     2821 tggaagaggc tcagatgtca aaggcaccca ttcagcagct ggctgaccgg tttagtggat
     2881 attttgtccc atttatcatc atcatgtcaa ctttgacgtt ggtggtatgg attgtaatcg
     2941 gttttatcga ttttggtgtt gttcagagat actttcctaa ccccaacaag cacatctccc
     3001 agacagaggt gatcatccgg tttgctttcc agacgtccat cacggtgctg tgcattgcct
     3061 gcccctgctc cctggggctg gccacgccca cggctgtcat ggtgggcacc ggggtggccg
     3121 cgcagaacgg catcctcatc aagggaggca agcccctgga gatggcgcac aagataaaga
     3181 ctgtgatgtt tgacaagact ggcaccatta cccatggcgt ccccagggtc atgcgggtgc
     3241 tcctgctggg ggatgtggcc acactgcccc tcaggaaggt tctggctgtg gtggggactg
     3301 cggaggccag cagtgaacac cccttgggcg tggcagtcac caaatactgt aaagaggaac
     3361 ttggaacaga gaccttggga tactgcacgg acttccaggc agtgccaggc tgtggaattg
     3421 ggtgcaaagt cagcaacgtg gaaggcatcc tggcccacag tgagcgccct ttgagtgcac
     3481 cggccagtca cctgaatgag gctggcagcc ttcccgcaga aaaagatgca gtcccccaga
     3541 ccttctctgt gctgattgga aaccgtgagt ggctgaggcg caacggttta accatttcta
     3601 gcgatgtcag tgacgctatg acagaccacg agatgaaagg acagacagcc atcctggtgg
     3661 ctattgacgg tgtgctctgt gggatgatcg caatcgcaga cgctgtcaag caggaggctg
     3721 ccctggctgt gcacacgctg cagagcatgg gtgtggacgt ggttctgatc acgggggaca
     3781 accggaagac agccagagct attgccaccc aggttggcat caacaaagtc tttgcagagg
     3841 tgctgccttc gcacaaggtg gccaaggtcc aggagctcca gaataaaggg aagaaagtcg
     3901 ccatggtggg ggatggggtc aatgactccc cggccttggc ccaggcagac atgggtgtgg
     3961 ccattggcac cggcacggat gtggccatcg aggcagccga cgtcgtcctt atcagaaatg
     4021 atttgctgga tgtggtggct agcattcacc tttccaagag gactgtccga aggatacgca
     4081 tcaacctggt cctggcactg atttataacc tggttgggat acccattgca gcaggtgtct
     4141 tcatgcccat cggcattgtg ctgcagccct ggatgggctc agcggccatg gcagcctcct
     4201 ctgtgtctgt ggtgctctca tccctgcagc tcaagtgcta taagaagcct gacctggaga
     4261 ggtatgaggc acaggcgcat ggccacatga agcccctgac ggcatcccag gtcagtgtgc
     4321 acataggcat ggatgacagg tggcgggact cccccagggc cacaccatgg gaccaggtca
     4381 gctatgtcag ccaggtgtcg ctgtcctccc tgacgtccga caagccatct cggcacagcg
     4441 ctgcagcaga cgatgatggg gacaagtggt ctctgctcct gaatggcagg gatgaggagc
     4501 agtacatctg atgacttcag gcaggcgggc cggggcaggg acttgcctcc actcaccaca
     4561 agctgagcag gacagccagc agcaggatgg gctgagctag cctccagctt tggggacttc
     4621 cgctccctgg atatgtccag tcatcctgcc ctgcagcacg cggccttgtc tgggtgcagc
     4681 tgggcttggc ctggagagga cggccctgcc tgcctcttgg cctcacggga ccgtcagcat
     4741 gggctttgtc ttggactcta gtccttggct ggactgtaga aggtgagagg cgagtcaccc
     4801 tcctcacaga cctctgcttg gagtatttag gatgactgct gtgaaatgga gaacagtttc
     4861 atcaggacca aaaaacctca ctgggccttt ccagagaact gcagacctca ctgtcagggt
     4921 ctttctgatg acgcctgtct gtgtgcatca tgtttctgag accacagttt acctcaggtg
     4981 tgcctgttgc tttcttcctg catagtctgt tcctttcttc gtacatagtc tgttcctttt
     5041 ctctcctgtg tgcttgtcag tggggacccc tcgcaaccct gcctgtcacc tgggagggtg
     5101 ggaccaatgt ccttgtggtc tttgctgctg ctctcaggcg cttctccaat gctctggagt
     5161 gtgcatttca gcttgaacct gcttcctggc tcacacatcc ccagccaggg agcttgccac
     5221 actcttcttc aagttgagga gagttctttt ttgcttaaag cccccttctc catggagtgt
     5281 tggcttctca atagagtgtt gttgctgacc agctggagtg agggcctcag agcctgacct
     5341 gagagtccgt actcggcttc ctgtggggtg taggttctcg cgattcagga cgtccttcca
     5401 tatccctgcc cagcctgtgg tgcttgaaac gtttgcccca tgggaaacgt atgtgtgcag
     5461 gagcctccct gcacggccca aggggcttcg ttttcagtct tctgactgtc acctcgtggg
     5521 gttcagtaga gaattcatgt gactagcgcc tggccttgtg tggcttggag gaaatggtac
     5581 tgcccaaata ggaggaaaac acagcctccc tgagcctgca ttctgcacgc tgcccagggg
     5641 cttcagaaaa ggagtggcca cagcaccccg aagggagcat ctgtttacct ggcagtggct
     5701 ctcagagcag cagaacgggt tcagttttag actctgaagt tggttgtgat tgacagaacc
     5761 ctttgggagc aaactagtag agttggatta aattctgggt gaaacccttt tctcccacac
     5821 aaaatagttt tagtgatttt tttcattgtc cattacttgc caggggcagt tttagcagca
     5881 cttttgatag attacgtcta atcctcccaa ccaaccagca gggtagctat tactgtccac
     5941 attttacagg caaggaaaca ggctccaaga ggctgaggac tttgcccagg atgacatagc
     6001 caatggacaa gcagtgtctg tcagctgtga aggcttcact cttattgtcc ttctaccttg
     6061 aatagaagtt ttcctgataa gaataaacga ggaaaaggtc cttgcctcct ggaagaacaa
     6121 atctaccagg tgatctattc attgtttcaa ctcagaatgc acttgattca ggaggtcatc
     6181 tgaccttcac cttggatggt tagtttcact ttttacatat agtttttgca gggttttatt
     6241 ttataaaatc caagcgcgct gttgattgtg ttttccttgt tttcagcccc cccactccag
     6301 cccgcagcac atttccgctg tccgtcagta attgtgtcct ctctttatgc ttgcttgggg
     6361 aatgttgttt tctgactagg ctgatcatta tctaaagaat ctaattctgt tgatttttaa
     6421 aacttttagg accataaacg ttgtgttcat atatggacat ggaaatattt atataatttt
     6481 atagaaaata accttttaga tggtcaaagt gtaaggagtt tttttgtcag ataatcattt
     6541 ctacttcaaa aacatttcat gcaatattag aataaagttc ctgtcattcc tctaaaaa
//
LOCUS       NM_000054               1825 bp    mRNA    linear   PRI 21-MAR-2023
DEFINITION  Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript
            variant 1, mRNA.
ACCESSION   NM_000054
VERSION     NM_000054.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1825)
  AUTHORS   Erdem Tuncdemir B.
  TITLE     Galphas and Galphaq/11 protein coupling bias of two AVPR2 mutants
            (R68W and V162A) that cause nephrogenic diabetes insipidus
  JOURNAL   J Recept Signal Transduct Res 42 (6), 573-579 (2022)
   PUBMED   35901021
  REMARK    GeneRIF: Galphas and Galphaq/11 protein coupling bias of two AVPR2
            mutants (R68W and V162A) that cause nephrogenic diabetes insipidus.
REFERENCE   2  (bases 1 to 1825)
  AUTHORS   Heidman LM, Peinetti N, Copello VA and Burnstein KL.
  TITLE     Exploiting Dependence of Castration-Resistant Prostate Cancer on the
            Arginine Vasopressin Signaling Axis by Repurposing Vaptans
  JOURNAL   Mol Cancer Res 20 (8), 1295-1304 (2022)
   PUBMED   35503085
  REMARK    GeneRIF: Exploiting Dependence of Castration-Resistant Prostate
            Cancer on the Arginine Vasopressin Signaling Axis by Repurposing
            Vaptans.
REFERENCE   3  (bases 1 to 1825)
  AUTHORS   Zang L, Gong Y, Li Y, Dou J, Lyu Z, Su X, Zhang Y and Mu Y.
  TITLE     A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a
            Chinese Family with Congenital Nephrogenic Diabetes Insipidus:
            X-Chromosome Inactivation in Female CNDI Patients with Heterozygote
            814A>G Mutation
  JOURNAL   Biomed Res Int 2022, 7073158 (2022)
   PUBMED   35865667
  REMARK    GeneRIF: A Novel Missense Mutation of Arginine Vasopressin Receptor
            2 in a Chinese Family with Congenital Nephrogenic Diabetes
            Insipidus: X-Chromosome Inactivation in Female CNDI Patients with
            Heterozygote 814A>G Mutation. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1825)
  AUTHORS   Li Q, Tian D, Cen J, Duan L and Xia W.
  TITLE     Novel AVPR2 mutations and clinical characteristics in 28 Chinese
            families with congenital nephrogenic diabetes insipidus
  JOURNAL   J Endocrinol Invest 44 (12), 2777-2783 (2021)
   PUBMED   34101133
  REMARK    GeneRIF: Novel AVPR2 mutations and clinical characteristics in 28
            Chinese families with congenital nephrogenic diabetes insipidus.
REFERENCE   5  (bases 1 to 1825)
  AUTHORS   He QT, Xiao P, Huang SM, Jia YL, Zhu ZL, Lin JY, Yang F, Tao XN,
            Zhao RJ, Gao FY, Niu XG, Xiao KH, Wang J, Jin C, Sun JP and Yu X.
  TITLE     Structural studies of phosphorylation-dependent interactions between
            the V2R receptor and arrestin-2
  JOURNAL   Nat Commun 12 (1), 2396 (2021)
   PUBMED   33888704
  REMARK    GeneRIF: Structural studies of phosphorylation-dependent
            interactions between the V2R receptor and arrestin-2. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 1825)
  AUTHORS   Knoers,N. and Lemmink,H.
  TITLE     Hereditary Nephrogenic Diabetes Insipidus
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301356
REFERENCE   7  (bases 1 to 1825)
  AUTHORS   van den Ouweland AM, Dreesen JC, Verdijk M, Knoers NV, Monnens LA,
            Rocchi M and van Oost BA.
  TITLE     Mutations in the vasopressin type 2 receptor gene (AVPR2) associated
            with nephrogenic diabetes insipidus
  JOURNAL   Nat Genet 2 (2), 99-102 (1992)
   PUBMED   1303271
REFERENCE   8  (bases 1 to 1825)
  AUTHORS   Pan Y, Metzenberg A, Das S, Jing B and Gitschier J.
  TITLE     Mutations in the V2 vasopressin receptor gene are associated with
            X-linked nephrogenic diabetes insipidus
  JOURNAL   Nat Genet 2 (2), 103-106 (1992)
   PUBMED   1303257
REFERENCE   9  (bases 1 to 1825)
  AUTHORS   Rosenthal W, Seibold A, Antaramian A, Lonergan M, Arthus MF, Hendy
            GN, Birnbaumer M and Bichet DG.
  TITLE     Molecular identification of the gene responsible for congenital
            nephrogenic diabetes insipidus
  JOURNAL   Nature 359 (6392), 233-235 (1992)
   PUBMED   1356229
REFERENCE   10  (bases 1 to 1825)
  AUTHORS   van den Ouweland AM, Knoop MT, Knoers VV, Markslag PW, Rocchi M,
            Warren ST, Ropers HH, Fahrenholz F, Monnens LA and van Oost BA.
  TITLE     Colocalization of the gene for nephrogenic diabetes insipidus (DIR)
            and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region
  JOURNAL   Genomics 13 (4), 1350-1352 (1992)
   PUBMED   1324225
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3697730.1,
            DRR138524.255899.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000646375.2/ ENSP00000496396.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U52112.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 23, 2021 this sequence version replaced NM_000054.6.
            Summary: This gene encodes the vasopressin receptor, type 2, also
            known as the V2 receptor, which belongs to the
            seven-transmembrane-domain G protein-coupled receptor (GPCR)
            superfamily, and couples to Gs thus stimulating adenylate cyclase.
            The subfamily that includes the V2 receptor, the V1a and V1b
            vasopressin receptors, the oxytocin receptor, and isotocin and
            mesotocin receptors in non-mammals, is well conserved, though
            several members signal via other G proteins. All bind similar
            cyclic nonapeptide hormones. The V2 receptor is expressed in the
            kidney tubule, predominantly in the distal convoluted tubule and
            collecting ducts, where its primary property is to respond to the
            pituitary hormone arginine vasopressin (AVP) by stimulating
            mechanisms that concentrate the urine and maintain water
            homeostasis in the organism. When the function of this gene is
            lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The
            V2 receptor is also expressed outside the kidney although its
            tissue localization is uncertain. When these 'extrarenal receptors'
            are stimulated by infusion of a V2 selective agonist (dDAVP), a
            variety of clotting factors are released into the bloodstream. The
            physiologic importance of this property is not known - its absence
            does not appear to be detrimental in NDI patients. The gene
            expression has also been described in fetal lung tissue and lung
            cancer associated with alternative splicing. [provided by RefSeq,
            Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1825
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1825
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="arginine vasopressin receptor 2"
                     /db_xref="GeneID:554"
                     /db_xref="HGNC:HGNC:897"
                     /db_xref="MIM:300538"
     misc_feature    221..223
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="upstream in-frame stop codon"
     CDS             272..1387
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="isoform 1 is encoded by transcript variant 1;
                     vasopressin V2 receptor; AVPR V2; antidiuretic hormone
                     receptor; renal-type arginine vasopressin receptor"
                     /codon_start=1
                     /product="vasopressin V2 receptor isoform 1"
                     /protein_id="NP_000045.1"
                     /db_xref="CCDS:CCDS14735.1"
                     /db_xref="GeneID:554"
                     /db_xref="HGNC:HGNC:897"
                     /db_xref="MIM:300538"
                     /translation="MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLS
                     IVFVAVALSNGLVLAALARRGRRGHWAPIHVFIGHLCLADLAVALFQVLPQLAWKATDR
                     FRGPDALCRAVKYLQMVGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWNRPVLVA
                     WAFSLLLSLPQLFIFAQRNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIA
                     ACQVLIFREIHASLVPGPSERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVYV
                     LCWAPFFLVQLWAAWDPEAPLEGAPFVLLMLLASLNSCTNPWIYASFSSSVSSELRSLL
                     CCARGRTPPSLGPQDESCTTASSSLAKDTSS"
     misc_feature    272..361
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    335..337
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30518.1); glycosylation site"
     misc_feature    386..460
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1);
                     transmembrane region"
     misc_feature    503..565
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1);
                     transmembrane region"
     misc_feature    611..676
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1);
                     transmembrane region"
     misc_feature    749..811
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1);
                     transmembrane region"
     misc_feature    872..931
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1);
                     transmembrane region"
     misc_feature    989..1048
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1085..1150
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1);
                     transmembrane region"
     misc_feature    1196..1255
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1);
                     transmembrane region"
     misc_feature    1316..1384
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30518.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1799..1804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="hexamer: AATAAA"
     polyA_site      1825
                     /gene="AVPR2"
                     /gene_synonym="ADHR; DI1; DIR; DIR3; NDI; NDI1; V2R"
                     /note="major polyA site"
ORIGIN
        1 agaggctggg ctgggccagg gcagggcagc cgatggagag cagatctgag cacccagcca
       61 ccttcacgcc accgcccagc tgcccaggag cccagccagg actggccata ctgccaccga
      121 cacgtgcaca cacgccaaca ggcatctgcc atgctggcat ctctataagg gctccagtcc
      181 agagaccctg ggccattgaa cttgctcctc aggcagaggc tgagtccgca catcacctcc
      241 aggccctcag aacacctgcc ccagccccac catgctcatg gcgtccacca cttccgctgt
      301 gcctgggcat ccctctctgc ccagcctgcc cagcaacagc agccaggaga ggccactgga
      361 cacccgggac ccgctgctag cccgggcgga gctggcgctg ctctccatag tctttgtggc
      421 tgtggccctg agcaatggcc tggtgctggc ggccctagct cggcggggcc ggcggggcca
      481 ctgggcaccc atacacgtct tcattggcca cttgtgcctg gccgacctgg ccgtggctct
      541 gttccaagtg ctgccccagc tggcctggaa ggccaccgac cgcttccgtg ggccagatgc
      601 cctgtgtcgg gccgtgaagt atctgcagat ggtgggcatg tatgcctcct cctacatgat
      661 cctggccatg acgctggacc gccaccgtgc catctgccgt cccatgctgg cgtaccgcca
      721 tggaagtggg gctcactgga accggccggt gctagtggct tgggccttct cgctccttct
      781 cagcctgccc cagctcttca tcttcgccca gcgcaacgtg gaaggtggca gcggggtcac
      841 tgactgctgg gcctgctttg cggagccctg gggccgtcgc acctatgtca cctggattgc
      901 cctgatggtg ttcgtggcac ctaccctggg tatcgccgcc tgccaggtgc tcatcttccg
      961 ggagattcat gccagtctgg tgccagggcc atcagagagg cctggggggc gccgcagggg
     1021 acgccggaca ggcagccccg gtgagggagc ccacgtgtca gcagctgtgg ccaagactgt
     1081 gaggatgacg ctagtgattg tggtcgtcta tgtgctgtgc tgggcaccct tcttcctggt
     1141 gcagctgtgg gccgcgtggg acccggaggc acctctggaa ggggcgccct ttgtgctact
     1201 catgttgctg gccagcctca acagctgcac caacccctgg atctatgcat ctttcagcag
     1261 cagcgtgtcc tcagagctgc gaagcttgct ctgctgtgcc cggggacgca ccccacccag
     1321 cctgggtccc caagatgagt cctgcaccac cgccagctcc tccctggcca aggacacttc
     1381 atcgtgagga gctgttgggt gtcttgcctc tagaggcttt gagaagctca gctgccttcc
     1441 tggggctggt cctgggagcc actgggaggg ggacccgtgg agaattggcc agagcctgtg
     1501 gccccgaggc tgggacactg tgtggccctg gacaagccac agcccctgcc tgggtctcca
     1561 catccccagc tgtatgagga gagcttcagg ccccaggact gtgggggccc ctcaggtcag
     1621 ctcactgagc tgggtgtagg aggggctgca gcagaggcct gaggagtggc aggaaagagg
     1681 gagcaggtgc ccccaggtga gacagcggtc ccaggggcct gaaaaggaag gaccaggctg
     1741 gggccagggg accttcctgt ctccgccttt ctaatccctc cctcctcatt ctctccctaa
     1801 taaaaattgg agctcatttt ccaca
//
LOCUS       NM_000055               2405 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens butyrylcholinesterase (BCHE), transcript variant 1,
            mRNA.
ACCESSION   NM_000055
VERSION     NM_000055.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2405)
  AUTHORS   Markuskova L, Javorova Rihova Z, Fazekas T, Martinkovicova A,
            Havrisko M, Dingova D, Solavova M, Rabarova D and Hrabovska A.
  TITLE     Serum butyrylcholinesterase as a marker of COVID-19 mortality:
            Results of the monocentric prospective observational study
  JOURNAL   Chem Biol Interact 381, 110557 (2023)
   PUBMED   37209860
  REMARK    GeneRIF: Serum butyrylcholinesterase as a marker of COVID-19
            mortality: Results of the monocentric prospective observational
            study.
REFERENCE   2  (bases 1 to 2405)
  AUTHORS   Wang JH, Wu SJ, Li Y, Zhao Y, Liu ZM, Deng SL and Lian ZX.
  TITLE     Improving the Efficiency of Precise Genome Editing with CRISPR/Cas9
            to Generate Goats Overexpressing Human Butyrylcholinesterase
  JOURNAL   Cells 12 (14), 1818 (2023)
   PUBMED   37508483
  REMARK    GeneRIF: Improving the Efficiency of Precise Genome Editing with
            CRISPR/Cas9 to Generate Goats Overexpressing Human
            Butyrylcholinesterase. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2405)
  AUTHORS   Khan SA, Leonel Javeres MN, Abbas Shah ST, Bibi N, Muneer Z, Hussain
            S, Nepovimova E, Kuca K and Nurulain SM.
  TITLE     Dysregulation of butyrylcholinesterase, BCHE gene SNP rs1803274, and
            pro-inflammatory cytokines in occupational workers
  JOURNAL   Environ Res 220, 115195 (2023)
   PUBMED   36592809
  REMARK    GeneRIF: Dysregulation of butyrylcholinesterase, BCHE gene SNP
            rs1803274, and pro-inflammatory cytokines in occupational workers.
REFERENCE   4  (bases 1 to 2405)
  AUTHORS   Gok M, Cicek C, Sari S and Bodur E.
  TITLE     Novel activity of human BChE: Lipid hydrolysis
  JOURNAL   Biochimie 204, 127-135 (2023)
   PUBMED   36126749
  REMARK    GeneRIF: Novel activity of human BChE: Lipid hydrolysis.
REFERENCE   5  (bases 1 to 2405)
  AUTHORS   Lockridge O.
  TITLE     Review of human butyrylcholinesterase structure, function, genetic
            variants, history of use in the clinic, and potential therapeutic
            uses
  JOURNAL   Pharmacol Ther 148, 34-46 (2015)
   PUBMED   25448037
  REMARK    Review article
REFERENCE   6  (bases 1 to 2405)
  AUTHORS   Gaughan G, Park H, Priddle J, Craig I and Craig S.
  TITLE     Refinement of the localization of human butyrylcholinesterase to
            chromosome 3q26.1-q26.2 using a PCR-derived probe
  JOURNAL   Genomics 11 (2), 455-458 (1991)
   PUBMED   1769658
REFERENCE   7  (bases 1 to 2405)
  AUTHORS   Allderdice PW, Gardner HA, Galutira D, Lockridge O, LaDu BN and
            McAlpine PJ.
  TITLE     The cloned butyrylcholinesterase (BCHE) gene maps to a single
            chromosome site, 3q26
  JOURNAL   Genomics 11 (2), 452-454 (1991)
   PUBMED   1769657
REFERENCE   8  (bases 1 to 2405)
  AUTHORS   Masson P, Chatonnet A and Lockridge O.
  TITLE     Evidence for a single butyrylcholinesterase gene in individuals
            carrying the C5 plasma cholinesterase variant (CHE2)
  JOURNAL   FEBS Lett 262 (1), 115-118 (1990)
   PUBMED   2318303
REFERENCE   9  (bases 1 to 2405)
  AUTHORS   Arpagaus M, Kott M, Vatsis KP, Bartels CF, La Du BN and Lockridge O.
  TITLE     Structure of the gene for human butyrylcholinesterase. Evidence for
            a single copy
  JOURNAL   Biochemistry 29 (1), 124-131 (1990)
   PUBMED   2322535
REFERENCE   10  (bases 1 to 2405)
  AUTHORS   Lockridge,O., Bartels,C.F., Vaughan,T.A., Wong,C.K., Norton,S.E. and
            Johnson,L.L.
  TITLE     Complete amino acid sequence of human serum cholinesterase
  JOURNAL   J Biol Chem 262 (2), 549-557 (1987)
   PUBMED   3542989
COMMENT     ##Evidence-Data-START##
            Transcript exon combination      :: M16474.1, M16541.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
            (PMID:3542989)
            MANE Ensembl match :: ENST00000264381.8/ ENSP00000264381.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL706210.1, BC018141.1,
            BF056152.1 and BG460576.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000055.3.
            Summary: This gene encodes a cholinesterase enzyme and member of
            the type-B carboxylesterase/lipase family of proteins. The encoded
            enzyme exhibits broad substrate specificity and is involved in the
            detoxification of poisons including organophosphate nerve agents
            and pesticides, and the metabolism of drugs including cocaine,
            heroin and aspirin. Humans homozygous for certain mutations in this
            gene exhibit prolonged apnea after administration of the muscle
            relaxant succinylcholine. [provided by RefSeq, Jul 2016].
            Transcript Variant: This variant (1) encodes the protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2405
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.1"
     gene            1..2405
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="butyrylcholinesterase"
                     /db_xref="GeneID:590"
                     /db_xref="HGNC:HGNC:983"
                     /db_xref="MIM:177400"
     misc_feature    62..64
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MIFTPCKLCHLCCRESEIN"
     CDS             119..1927
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /EC_number="3.1.1.8"
                     /note="cholinesterase 1; choline esterase II;
                     pseudocholinesterase; butyrylcholine esterase; acylcholine
                     acylhydrolase; cholinesterase (serum) 2"
                     /codon_start=1
                     /product="cholinesterase precursor"
                     /protein_id="NP_000046.1"
                     /db_xref="CCDS:CCDS3198.1"
                     /db_xref="GeneID:590"
                     /db_xref="HGNC:HGNC:983"
                     /db_xref="MIM:177400"
                     /translation="MHSKVTIICIRFLFWFLLLCMLIGKSHTEDDIIIATKNGKVRGMN
                     LTVFGGTVTAFLGIPYAQPPLGRLRFKKPQSLTKWSDIWNATKYANSCCQNIDQSFPGF
                     HGSEMWNPNTDLSEDCLYLNVWIPAPKPKNATVLIWIYGGGFQTGTSSLHVYDGKFLAR
                     VERVIVVSMNYRVGALGFLALPGNPEAPGNMGLFDQQLALQWVQKNIAAFGGNPKSVTL
                     FGESAGAASVSLHLLSPGSHSLFTRAILQSGSFNAPWAVTSLYEARNRTLNLAKLTGCS
                     RENETEIIKCLRNKDPQEILLNEAFVVPYGTPLSVNFGPTVDGDFLTDMPDILLELGQF
                     KKTQILVGVNKDEGTAFLVYGAPGFSKDNNSIITRKEFQEGLKIFFPGVSEFGKESILF
                     HYTDWVDDQRPENYREALGDVVGDYNFICPALEFTKKFSEWGNNAFFYYFEHRSSKLPW
                     PEWMGVMHGYEIEFVFGLPLERRDNYTKAEEILSRSIVKRWANFAKYGNPNETQNNSTS
                     WPVFKSTEQKYLTLNTESTRIMTKLRAQQCRFWTSFFPKVLEMTGNIDEAEWEWKAGFH
                     RWNNYMMDWKNQFNDYTSKKESCVGL"
     sig_peptide     119..202
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     203..1924
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /product="Cholinesterase. /id=PRO_0000008613"
                     /note="propagated from UniProtKB/Swiss-Prot (P06276.1)"
     misc_feature    251..253
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:18203274; propagated from
                     UniProtKB/Swiss-Prot (P06276.1); glycosylation site"
     misc_feature    371..373
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:12869558,
                     ECO:0000269|PubMed:15667209, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:17355286, ECO:0000269|PubMed:17768338,
                     ECO:0000269|PubMed:18203274, ECO:0000269|PubMed:18975951,
                     ECO:0000269|PubMed:19368529, ECO:0000269|PubMed:23679855;
                     propagated from UniProtKB/Swiss-Prot (P06276.1);
                     glycosylation site"
     misc_feature    518..520
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:12869558,
                     ECO:0000269|PubMed:15667209, ECO:0000269|PubMed:17355286,
                     ECO:0000269|PubMed:17768338, ECO:0000269|PubMed:18203274,
                     ECO:0000269|PubMed:18975951, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19368529, ECO:0000269|PubMed:23679855;
                     propagated from UniProtKB/Swiss-Prot (P06276.1);
                     glycosylation site"
     misc_feature    794..796
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:22444575; propagated from
                     UniProtKB/Swiss-Prot (P06276.1); phosphorylation site"
     misc_feature    923..925
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:12869558,
                     ECO:0000269|PubMed:15667209, ECO:0000269|PubMed:17355286,
                     ECO:0000269|PubMed:18203274, ECO:0000269|PubMed:19368529,
                     ECO:0000269|PubMed:23679855; propagated from
                     UniProtKB/Swiss-Prot (P06276.1); glycosylation site"
     misc_feature    968..970
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:18203274,
                     ECO:0000269|PubMed:18975951, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19368529,
                     ECO:0000269|PubMed:23679855; propagated from
                     UniProtKB/Swiss-Prot (P06276.1); glycosylation site"
     misc_feature    1223..1225
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:12869558,
                     ECO:0000269|PubMed:15667209, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:17355286, ECO:0000269|PubMed:17768338,
                     ECO:0000269|PubMed:18203274, ECO:0000269|PubMed:18975951,
                     ECO:0000269|PubMed:19368529, ECO:0000269|PubMed:23679855;
                     propagated from UniProtKB/Swiss-Prot (P06276.1);
                     glycosylation site"
     misc_feature    1565..1567
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:18203274; propagated from
                     UniProtKB/Swiss-Prot (P06276.1); glycosylation site"
     misc_feature    1643..1645
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:3542989;
                     propagated from UniProtKB/Swiss-Prot (P06276.1);
                     glycosylation site"
     misc_feature    1655..1657
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12869558,
                     ECO:0000269|PubMed:15667209, ECO:0000269|PubMed:17355286,
                     ECO:0000269|PubMed:17768338, ECO:0000269|PubMed:18975951,
                     ECO:0000269|PubMed:19368529, ECO:0000269|PubMed:23679855;
                     propagated from UniProtKB/Swiss-Prot (P06276.1);
                     glycosylation site"
     misc_feature    1658..1660
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:3542989;
                     propagated from UniProtKB/Swiss-Prot (P06276.1);
                     glycosylation site"
     regulatory      2204..2209
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="hexamer: AATAAA"
     polyA_site      2230
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
     regulatory      2383..2388
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="hexamer: ATTAAA"
     polyA_site      2405
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="major polyA site"
ORIGIN
        1 agtgcagtcc aatttacagg ctggagcagc agctgcatcc tgcatttccc cgaagtatta
       61 catgattttc actccttgca aactttgcca tctttgttgc agagaatcgg aaatcaatat
      121 gcatagcaaa gtcacaatca tatgcatcag atttctcttt tggtttcttt tgctctgcat
      181 gcttattggg aagtcacata ctgaagatga catcataatt gcaacaaaga atggaaaagt
      241 cagagggatg aacttgacag tttttggtgg cacggtaaca gcctttcttg gaattcccta
      301 tgcacagcca cctcttggta gacttcgatt caaaaagcca cagtctctga ccaagtggtc
      361 tgatatttgg aatgccacaa aatatgcaaa ttcttgctgt cagaacatag atcaaagttt
      421 tccaggcttc catggatcag agatgtggaa cccaaacact gacctcagtg aagactgttt
      481 atatctaaat gtatggattc cagcacctaa accaaaaaat gccactgtat tgatatggat
      541 ttatggtggt ggttttcaaa ctggaacatc atctttacat gtttatgatg gcaagtttct
      601 ggctcgggtt gaaagagtta ttgtagtgtc aatgaactat agggtgggtg ccctaggatt
      661 cttagctttg ccaggaaatc ctgaggctcc agggaacatg ggtttatttg atcaacagtt
      721 ggctcttcag tgggttcaaa aaaatatagc agcctttggt ggaaatccta aaagtgtaac
      781 tctctttgga gaaagtgcag gagcagcttc agttagcctg catttgcttt ctcctggaag
      841 ccattcattg ttcaccagag ccattctgca aagtggatcc tttaatgctc cttgggcggt
      901 aacatctctt tatgaagcta ggaacagaac gttgaactta gctaaattga ctggttgctc
      961 tagagagaat gagactgaaa taatcaagtg tcttagaaat aaagatcccc aagaaattct
     1021 tctgaatgaa gcatttgttg tcccctatgg gactcctttg tcagtaaact ttggtccgac
     1081 cgtggatggt gattttctca ctgacatgcc agacatatta cttgaacttg gacaatttaa
     1141 aaaaacccag attttggtgg gtgttaataa agatgaaggg acagcttttt tagtctatgg
     1201 tgctcctggc ttcagcaaag ataacaatag tatcataact agaaaagaat ttcaggaagg
     1261 tttaaaaata ttttttccag gagtgagtga gtttggaaag gaatccatcc tttttcatta
     1321 cacagactgg gtagatgatc agagacctga aaactaccgt gaggccttgg gtgatgttgt
     1381 tggggattat aatttcatat gccctgcctt ggagttcacc aagaagttct cagaatgggg
     1441 aaataatgcc tttttctact attttgaaca ccgatcctcc aaacttccgt ggccagaatg
     1501 gatgggagtg atgcatggct atgaaattga atttgtcttt ggtttacctc tggaaagaag
     1561 agataattac acaaaagccg aggaaatttt gagtagatcc atagtgaaac ggtgggcaaa
     1621 ttttgcaaaa tatgggaatc caaatgagac tcagaacaat agcacaagct ggcctgtctt
     1681 caaaagcact gaacaaaaat atctaacctt gaatacagag tcaacaagaa taatgacgaa
     1741 actacgtgct caacaatgtc gattctggac atcatttttt ccaaaagtct tggaaatgac
     1801 aggaaatatt gatgaagcag aatgggagtg gaaagcagga ttccatcgct ggaacaatta
     1861 catgatggac tggaaaaatc aatttaacga ttacactagc aagaaagaaa gttgtgtggg
     1921 tctctaatta atagatttac cctttataga acatattttc ctttagatca aggcaaaaat
     1981 atcaggagct tttttacaca cctactaaaa aagttattat gtagctgaaa caaaaatgcc
     2041 agaaggataa tattgattcc tcacatcttt aacttagtat tttacctagc atttcaaaac
     2101 ccaaatggct agaacgtgtt taattaaatt tcacaatata aagttctaca gttaattatg
     2161 tgcatattaa aacaatggcc tggttcaatt tctttctttc cttaataaat ttaagttttt
     2221 ccccccaaaa ttatcagtgc tctgctttta gtcacgtgta ttttcattac cactcgtaaa
     2281 aaggtatctt ttttaaatga attaaatatt gaaacactgt acaccatagt ttacaatatt
     2341 atgtttccta attaaaataa gaattgaatg tcaatatgag atattaaaat aagcacagaa
     2401 aatca
//
LOCUS       NM_000057               5240 bp    mRNA    linear   PRI 18-JUL-2023
DEFINITION  Homo sapiens BLM RecQ like helicase (BLM), transcript variant 1,
            mRNA.
ACCESSION   NM_000057
VERSION     NM_000057.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5240)
  AUTHORS   Huang M, Chen L, Guo Y, Ruan Y and Xu H.
  TITLE     PARP1 negatively regulates transcription of BLM through its
            interaction with HSP90AB1 in prostate cancer
  JOURNAL   J Transl Med 21 (1), 445 (2023)
   PUBMED   37415147
  REMARK    GeneRIF: PARP1 negatively regulates transcription of BLM through its
            interaction with HSP90AB1 in prostate cancer. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 5240)
  AUTHORS   Feng S, Qian X, Feng D and Zhang X.
  TITLE     Downregulation of BLM RecQ helicase inhibits proliferation, promotes
            the apoptosis and enhances the sensitivity of bladder cancer cells
            to cisplatin
  JOURNAL   Mol Med Rep 26 (4) (2022)
   PUBMED   36004459
  REMARK    GeneRIF: Downregulation of BLM RecQ helicase inhibits proliferation,
            promotes the apoptosis and enhances the sensitivity of bladder
            cancer cells to cisplatin.
REFERENCE   3  (bases 1 to 5240)
  AUTHORS   Wang T, Hu J, Li Y, Bi L, Guo L, Jia X, Zhang X, Li D, Hou XM,
            Modesti M, Xi XG, Liu C and Sun B.
  TITLE     Bloom Syndrome Helicase Compresses Single-Stranded DNA into
            Phase-Separated Condensates
  JOURNAL   Angew Chem Int Ed Engl 61 (39), e202209463 (2022)
   PUBMED   35922882
  REMARK    GeneRIF: Bloom Syndrome Helicase Compresses Single-Stranded DNA into
            Phase-Separated Condensates.
REFERENCE   4  (bases 1 to 5240)
  AUTHORS   Gonenc II, Elcioglu NH, Martinez Grijalva C, Aras S, Grossmann N,
            Praulich I, Altmuller J, Kaulfuss S, Li Y, Nurnberg P, Burfeind P,
            Yigit G and Wollnik B.
  TITLE     Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome
  JOURNAL   Clin Genet 101 (5-6), 559-564 (2022)
   PUBMED   35218564
  REMARK    GeneRIF: Phenotypic spectrum of BLM- and RMI1-related Bloom
            syndrome.
REFERENCE   5  (bases 1 to 5240)
  AUTHORS   Foucault F, Vaury C, Barakat A, Thibout D, Planchon P, Jaulin C,
            Praz F and Amor-Gueret M.
  TITLE     Characterization of a new BLM mutation associated with a
            topoisomerase II alpha defect in a patient with Bloom's syndrome
  JOURNAL   Hum Mol Genet 6 (9), 1427-1434 (1997)
   PUBMED   9285778
REFERENCE   6  (bases 1 to 5240)
  AUTHORS   Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S,
            Proytcheva M and German J.
  TITLE     The Bloom's syndrome gene product is homologous to RecQ helicases
  JOURNAL   Cell 83 (4), 655-666 (1995)
   PUBMED   7585968
REFERENCE   7  (bases 1 to 5240)
  AUTHORS   German J, Roe AM, Leppert MF and Ellis NA.
  TITLE     Bloom syndrome: an analysis of consanguineous families assigns the
            locus mutated to chromosome band 15q26.1
  JOURNAL   Proc Natl Acad Sci U S A 91 (14), 6669-6673 (1994)
   PUBMED   8022833
REFERENCE   8  (bases 1 to 5240)
  AUTHORS   Flanagan,M. and Cunniff,C.M.
  TITLE     Bloom Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301572
REFERENCE   9  (bases 1 to 5240)
  AUTHORS   Turner,J.T., Brzezinski,J. and Dome,J.S.
  TITLE     Wilms Tumor Predisposition
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301471
REFERENCE   10  (bases 1 to 5240)
  AUTHORS   McDaniel LD and Schultz RA.
  TITLE     Elevated sister chromatid exchange phenotype of Bloom syndrome cells
            is complemented by human chromosome 15
  JOURNAL   Proc Natl Acad Sci U S A 89 (17), 7968-7972 (1992)
   PUBMED   1518822
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC034480.1, U39817.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000355112.8/ ENSP00000347232.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD707743.1, BC062697.1,
            U39817.1, BC115030.1, BC034480.1 and AC124248.6.
            On Nov 22, 2018 this sequence version replaced NM_000057.3.
            Summary: The Bloom syndrome is an autosomal recessive disorder
            characterized by growth deficiency, microcephaly and
            immunodeficiency among others. It is caused by homozygous or
            compound heterozygous mutation in the gene encoding DNA helicase
            RecQ protein on chromosome 15q26. This Bloom-associated helicase
            unwinds a variety of DNA substrates including Holliday junction,
            and is involved in several pathways contributing to the maintenance
            of genome stability. Identification of pathogenic Bloom variants is
            required for heterozygote testing in at-risk families. [provided by
            RefSeq, May 2020].
            Transcript Variant: This variant (1) encodes the longest protein
            (isoform 1). Variants 1 and 2 encode the same protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5240
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     gene            1..5240
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="BLM RecQ like helicase"
                     /db_xref="GeneID:641"
                     /db_xref="HGNC:HGNC:1058"
                     /db_xref="MIM:604610"
     CDS             100..4353
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /EC_number="3.6.4.12"
                     /note="isoform 1 is encoded by transcript variant 1; bloom
                     syndrome protein; recQ protein-like 3; Bloom syndrome RecQ
                     like helicase; DNA helicase, RecQ-like type 2; Bloom
                     syndrome, RecQ helicase-like; recQ-like DNA helicase BLM"
                     /codon_start=1
                     /product="recQ-like DNA helicase BLM isoform 1"
                     /protein_id="NP_000048.1"
                     /db_xref="CCDS:CCDS10363.1"
                     /db_xref="GeneID:641"
                     /db_xref="HGNC:HGNC:1058"
                     /db_xref="MIM:604610"
                     /translation="MAAVPQNNLQEQLERHSARTLNNKLSLSKPKFSGFTFKKKTSSDN
                     NVSVTNVSVAKTPVLRNKDVNVTEDFSFSEPLPNTTNQQRVKDFFKNAPAGQETQRGGS
                     KSLLPDFLQTPKEVVCTTQNTPTVKKSRDTALKKLEFSSSPDSLSTINDWDDMDDFDTS
                     ETSKSFVTPPQSHFVRVSTAQKSKKGKRNFFKAQLYTTNTVKTDLPPPSSESEQIDLTE
                     EQKDDSEWLSSDVICIDDGPIAEVHINEDAQESDSLKTHLEDERDNSEKKKNLEEAELH
                     STEKVPCIEFDDDDYDTDFVPPSPEEIISASSSSSKCLSTLKDLDTSDRKEDVLSTSKD
                     LLSKPEKMSMQELNPETSTDCDARQISLQQQLIHVMEHICKLIDTIPDDKLKLLDCGNE
                     LLQQRNIRRKLLTEVDFNKSDASLLGSLWRYRPDSLDGPMEGDSCPTGNSMKELNFSHL
                     PSNSVSPGDCLLTTTLGKTGFSATRKNLFERPLFNTHLQKSFVSSNWAETPRLGKKNES
                     SYFPGNVLTSTAVKDQNKHTASINDLERETQPSYDIDNFDIDDFDDDDDWEDIMHNLAA
                     SKSSTAAYQPIKEGRPIKSVSERLSSAKTDCLPVSSTAQNINFSESIQNYTDKSAQNLA
                     SRNLKHERFQSLSFPHTKEMMKIFHKKFGLHNFRTNQLEAINAALLGEDCFILMPTGGG
                     KSLCYQLPACVSPGVTVVISPLRSLIVDQVQKLTSLDIPATYLTGDKTDSEATNIYLQL
                     SKKDPIIKLLYVTPEKICASNRLISTLENLYERKLLARFVIDEAHCVSQWGHDFRQDYK
                     RMNMLRQKFPSVPVMALTATANPRVQKDILTQLKILRPQVFSMSFNRHNLKYYVLPKKP
                     KKVAFDCLEWIRKHHPYDSGIIYCLSRRECDTMADTLQRDGLAALAYHAGLSDSARDEV
                     QQKWINQDGCQVICATIAFGMGIDKPDVRFVIHASLPKSVEGYYQESGRAGRDGEISHC
                     LLFYTYHDVTRLKRLIMMEKDGNHHTRETHFNNLYSMVHYCENITECRRIQLLAYFGEN
                     GFNPDFCKKHPDVSCDNCCKTKDYKTRDVTDDVKSIVRFVQEHSSSQGMRNIKHVGPSG
                     RFTMNMLVDIFLGSKSAKIQSGIFGKGSAYSRHNAERLFKKLILDKILDEDLYINANDQ
                     AIAYVMLGNKAQTVLNGNLKVDFMETENSSSVKKQKALVAKVSQREEMVKKCLGELTEV
                     CKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVLLQIDGVTEDKLEKYGAEVISVLQK
                     YSEWTSPAEDSSPGISLSSSRGPGRSAAEELDEEIPVSSHYFASKTRNERKRKKMPASQ
                     RSKRRKTASSGSKAKGGSATCRKISSKTKSSSIIGSSSASHTSQATSGANSKLGIMAPP
                     KPINRPFLKPSYAFS"
     misc_feature    100..162
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54132.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    181..183
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    241..243
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    268..270
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    439..441
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    601..603
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    610..612
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    706..780
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54132.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    847..972
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54132.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1000..1899
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54132.1);
                     Region: Necessary for interaction with SPIDR.
                     /evidence=ECO:0000269|PubMed:23509288"
     misc_feature    1081..1083
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    1111..1113
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    1171..1173
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    1183..1341
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54132.1);
                     Region: Necessary for dimerization and homooligomerization.
                     /evidence=ECO:0000269|PubMed:28228481"
     misc_feature    1354..1356
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    1363..1365
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P54132.1);
                     phosphorylation site"
     misc_feature    1375..1377
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    1489..1491
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    1594..1596
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P54132.1);
                     phosphorylation site"
     misc_feature    1621..1623
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:16964243; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    2248..2250
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="3' overhang DNA-binding.
                     /evidence=ECO:0000269|PubMed:25901030; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); other site"
     misc_feature    2482..2493
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54132.1);
                     Region: DEAH box"
     misc_feature    2521..2523
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="3' overhang DNA-binding.
                     /evidence=ECO:0000269|PubMed:25901030; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); other site"
     misc_feature    2686..2688
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); acetylation site"
     misc_feature    2707..2718
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54132.1);
                     Region: 3' overhang DNA-binding.
                     /evidence=ECO:0000269|PubMed:25901030"
     misc_feature    2788..2796
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54132.1);
                     Region: 3' overhang DNA-binding.
                     /evidence=ECO:0000269|PubMed:24816114,
                     ECO:0000269|PubMed:25901030, ECO:0007744|PDB:4CGZ,
                     ECO:0007744|PDB:4O3M"
     misc_feature    2857..2859
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="3' overhang DNA-binding, via amide nitrogen.
                     /evidence=ECO:0000269|PubMed:24816114,
                     ECO:0000269|PubMed:25901030, ECO:0007744|PDB:4CGZ,
                     ECO:0007744|PDB:4O3M; propagated from UniProtKB/Swiss-Prot
                     (P54132.1); other site"
     misc_feature    2935..2937
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="3' overhang DNA-binding.
                     /evidence=ECO:0000269|PubMed:24816114,
                     ECO:0000269|PubMed:25901030, ECO:0007744|PDB:4CGZ,
                     ECO:0007744|PDB:4O3M; propagated from UniProtKB/Swiss-Prot
                     (P54132.1); other site"
     misc_feature    3001..3003
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="3' overhang DNA-binding.
                     /evidence=ECO:0000269|PubMed:24816114,
                     ECO:0000269|PubMed:25901030, ECO:0007744|PDB:4CGZ,
                     ECO:0007744|PDB:4O3M; propagated from UniProtKB/Swiss-Prot
                     (P54132.1); other site"
     misc_feature    3097..3108
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54132.1);
                     Region: 3' overhang DNA-binding.
                     /evidence=ECO:0000269|PubMed:24816114,
                     ECO:0000269|PubMed:25901030, ECO:0007744|PDB:4CGZ,
                     ECO:0007744|PDB:4O3M"
     misc_feature    3379..3516
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54132.1);
                     Region: DNA Holliday junction binding.
                     /evidence=ECO:0000269|PubMed:24257077"
     misc_feature    3427..3435
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54132.1);
                     Region: 3' overhang DNA-binding.
                     /evidence=ECO:0000269|PubMed:24816114,
                     ECO:0000269|PubMed:25901030, ECO:0007744|PDB:4CGZ,
                     ECO:0007744|PDB:4O3M"
     misc_feature    3427..3429
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="3' overhang DNA-binding.
                     /evidence=ECO:0000269|PubMed:24816114,
                     ECO:0000269|PubMed:25901030, ECO:0007744|PDB:4CGZ,
                     ECO:0007744|PDB:4O3M; propagated from UniProtKB/Swiss-Prot
                     (P54132.1); other site"
     misc_feature    3460..3474
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54132.1);
                     Region: 3' overhang DNA-binding.
                     /evidence=ECO:0000269|PubMed:24816114,
                     ECO:0000269|PubMed:25901030, ECO:0007744|PDB:4CGZ,
                     ECO:0007744|PDB:4O3M"
     misc_feature    3577..3597
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54132.1);
                     Region: 3' overhang DNA-binding.
                     /evidence=ECO:0000269|PubMed:24816114,
                     ECO:0000269|PubMed:25901030, ECO:0007744|PDB:4CGZ,
                     ECO:0007744|PDB:4O3M"
     misc_feature    3688..3690
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    3778..3831
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54132.1);
                     Region: Necessary for ssDNA and DNA Holliday junction
                     binding. /evidence=ECO:0000269|PubMed:20639533"
     misc_feature    3964..4350
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54132.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3982..3984
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    3985..3987
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    4027..4029
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54132.1); phosphorylation site"
     misc_feature    4099..4146
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54132.1);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     regulatory      4416..4421
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="hexamer: TATAAA"
     polyA_site      4442
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="major polyA site"
     regulatory      4511..4516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="hexamer: AATAAA"
     polyA_site      4536
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
     regulatory      5220..5225
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
                     /note="hexamer: AATAAA"
     polyA_site      5240
                     /gene="BLM"
                     /gene_synonym="BS; MGRISCE1; RECQ2; RECQL2; RECQL3"
ORIGIN
        1 ccggcgggaa gtgagccagg gcttggcgcg gcggccgtgg ttgcggcgcg ggaagtttgg
       61 atcctggttc cgtccgctag gagtctgcgt gcgaggatta tggctgctgt tcctcaaaat
      121 aatctacagg agcaactaga acgtcactca gccagaacac ttaataataa attaagtctt
      181 tcaaaaccaa aattttcagg tttcactttt aaaaagaaaa catcttcaga taacaatgta
      241 tctgtaacta atgtgtcagt agcaaaaaca cctgtattaa gaaataaaga tgttaatgtt
      301 accgaagact tttccttcag tgaacctcta cccaacacca caaatcagca aagggtcaag
      361 gacttcttta aaaatgctcc agcaggacag gaaacacaga gaggtggatc aaaatcatta
      421 ttgccagatt tcttgcagac tccgaaggaa gttgtatgca ctacccaaaa cacaccaact
      481 gtaaagaaat cccgggatac tgctctcaag aaattagaat ttagttcttc accagattct
      541 ttaagtacca tcaatgattg ggatgatatg gatgactttg atacttctga gacttcaaaa
      601 tcatttgtta caccacccca aagtcacttt gtaagagtaa gcactgctca gaaatcaaaa
      661 aagggtaaga gaaacttttt taaagcacag ctttatacaa caaacacagt aaagactgat
      721 ttgcctccac cctcctctga aagcgagcaa atagatttga ctgaggaaca gaaggatgac
      781 tcagaatggt taagcagcga tgtgatttgc atcgatgatg gccccattgc tgaagtgcat
      841 ataaatgaag atgctcagga aagtgactct ctgaaaactc atttggaaga tgaaagagat
      901 aatagcgaaa agaagaagaa tttggaagaa gctgaattac attcaactga gaaagttcca
      961 tgtattgaat ttgatgatga tgattatgat acggattttg ttccaccttc tccagaagaa
     1021 attatttctg cttcttcttc ctcttcaaaa tgccttagta cgttaaagga ccttgacacc
     1081 tctgacagaa aagaggatgt tcttagcaca tcaaaagatc ttttgtcaaa acctgagaaa
     1141 atgagtatgc aggagctgaa tccagaaacc agcacagact gtgacgctag acagataagt
     1201 ttacagcagc agcttattca tgtgatggag cacatctgta aattaattga tactattcct
     1261 gatgataaac tgaaactttt ggattgtggg aacgaactgc ttcagcagcg gaacataaga
     1321 aggaaacttc taacggaagt agattttaat aaaagtgatg ccagtcttct tggctcattg
     1381 tggagataca ggcctgattc acttgatggc cctatggagg gtgattcctg ccctacaggg
     1441 aattctatga aggagttaaa tttttcacac cttccctcaa attctgtttc tcctggggac
     1501 tgtttactga ctaccaccct aggaaagaca ggattctctg ccaccaggaa gaatcttttt
     1561 gaaaggcctt tattcaatac ccatttacag aagtcctttg taagtagcaa ctgggctgaa
     1621 acaccaagac taggaaaaaa aaatgaaagc tcttatttcc caggaaatgt tctcacaagc
     1681 actgctgtga aagatcagaa taaacatact gcttcaataa atgacttaga aagagaaacc
     1741 caaccttcct atgatattga taattttgac atagatgact ttgatgatga tgatgactgg
     1801 gaagacataa tgcataattt agcagccagc aaatcttcca cagctgccta tcaacccatc
     1861 aaggaaggtc ggccaattaa atcagtatca gaaagacttt cctcagccaa gacagactgt
     1921 cttccagtgt catctactgc tcaaaatata aacttctcag agtcaattca gaattatact
     1981 gacaagtcag cacaaaattt agcatccaga aatctgaaac atgagcgttt ccaaagtctt
     2041 agttttcctc atacaaagga aatgatgaag atttttcata aaaaatttgg cctgcataat
     2101 tttagaacta atcagctaga ggcgatcaat gctgcactgc ttggtgaaga ctgttttatc
     2161 ctgatgccga ctggaggtgg taagagtttg tgttaccagc tccctgcctg tgtttctcct
     2221 ggggtcactg ttgtcatttc tcccttgaga tcacttatcg tagatcaagt ccaaaagctg
     2281 acttccttgg atattccagc tacatatctg acaggtgata agactgactc agaagctaca
     2341 aatatttacc tccagttatc aaaaaaagac ccaatcataa aacttctata tgtcactcca
     2401 gaaaagatct gtgcaagtaa cagactcatt tctactctgg agaatctcta tgagaggaag
     2461 ctcttggcac gttttgttat tgatgaagca cattgtgtca gtcagtgggg acatgatttt
     2521 cgtcaagatt acaaaagaat gaatatgctt cgccagaagt ttccttctgt tccggtgatg
     2581 gctcttacgg ccacagctaa tcccagggta cagaaggaca tcctgactca gctgaagatt
     2641 ctcagacctc aggtgtttag catgagcttt aacagacata atctgaaata ctatgtatta
     2701 ccgaaaaagc ctaaaaaggt ggcatttgat tgcctagaat ggatcagaaa gcaccaccca
     2761 tatgattcag ggataattta ctgcctctcc aggcgagaat gtgacaccat ggctgacacg
     2821 ttacagagag atgggctcgc tgctcttgct taccatgctg gcctcagtga ttctgccaga
     2881 gatgaagtgc agcagaagtg gattaatcag gatggctgtc aggttatctg tgctacaatt
     2941 gcatttggaa tggggattga caaaccggac gtgcgatttg tgattcatgc atctctccct
     3001 aaatctgtgg agggttacta ccaagaatct ggcagagctg gaagagatgg ggaaatatct
     3061 cactgcctgc ttttctatac ctatcatgat gtgaccagac tgaaaagact tataatgatg
     3121 gaaaaagatg gaaaccatca tacaagagaa actcacttca ataatttgta tagcatggta
     3181 cattactgtg aaaatataac ggaatgcagg agaatacagc ttttggccta ctttggtgaa
     3241 aatggattta atcctgattt ttgtaagaaa cacccagatg tttcttgtga taattgctgt
     3301 aaaacaaagg attataaaac aagagatgtg actgacgatg tgaaaagtat tgtaagattt
     3361 gttcaagaac atagttcatc acaaggaatg agaaatataa aacatgtagg tccttctgga
     3421 agatttacta tgaatatgct ggtcgacatt ttcttgggga gtaagagtgc aaaaatccag
     3481 tcaggtatat ttggaaaagg atctgcttat tcacgacaca atgccgaaag actttttaaa
     3541 aagctgatac ttgacaagat tttggatgaa gacttatata tcaatgccaa tgaccaggcg
     3601 atcgcttatg tgatgctcgg aaataaagcc caaactgtac taaatggcaa tttaaaggta
     3661 gactttatgg aaacagaaaa ttccagcagt gtgaaaaaac aaaaagcgtt agtagcaaaa
     3721 gtgtctcaga gggaagagat ggttaaaaaa tgtcttggag aacttacaga agtctgcaaa
     3781 tctctgggga aagtttttgg tgtccattac ttcaatattt ttaataccgt cactctcaag
     3841 aagcttgcag aatctttatc ttctgatcct gaggttttgc ttcaaattga tggtgttact
     3901 gaagacaaac tggaaaaata tggtgcggaa gtgatttcag tattacagaa atactctgaa
     3961 tggacatcgc cagctgaaga cagttcccca gggataagcc tgtccagcag cagaggcccc
     4021 ggaagaagtg ccgctgagga gctcgacgag gaaatacccg tatcttccca ctactttgca
     4081 agtaaaacca gaaatgaaag gaagaggaaa aagatgccag cctcccaaag gtctaagagg
     4141 agaaaaactg cttccagtgg ttccaaggca aagggggggt ctgccacatg tagaaagata
     4201 tcttccaaaa cgaaatcctc cagcatcatt ggatccagtt cagcctcaca tacttctcaa
     4261 gcgacatcag gagccaatag caaattgggg attatggctc caccgaagcc tataaataga
     4321 ccgtttctta agccttcata tgcattctca taacaaccga atctcaatgt acatagaccc
     4381 tctttcttgt ttgtcagcat ctgaccatct gtgactataa agctgttatt cttgttatac
     4441 catttgaagt ttttactcgt ctctattaat atttaaataa atgctggggg gtgatagttc
     4501 ttctttttaa aataaacatt ttcttttgaa taagcatgtt ttgctgccgc tgcaagtgtt
     4561 gtggccgttg tttctcagaa cgtctgaggc agcagctgaa tcatctcagt gcaagagctt
     4621 ctgagcataa cacgaaaccc agaagccaaa ggaagagcca cgcgtgggcc cttgtgaaac
     4681 taaagctttt cgtgtaagac aacacaaaca aaatttaaag acaaatgacg gggaaaagag
     4741 gagaaaatat attacaaagg attagtatcc atcataccaa atacccgtga accagtcaga
     4801 aacatcccag ggggcaggtg gaccaaggat gtgaacaggc tagtctcaga agaagaaata
     4861 cacatgctca tggcccggca ctgtggctca cgcctgggat cccagcactt tgggaggccg
     4921 aggcaggtgg atcacgaggt caggagtttg agaccagcct gcccaacatg gtgaaacccc
     4981 gtctctacta aaaatacaaa aattagccag gcgtggtgta caggcacgcc tgtagtccca
     5041 gctactcagg aggctgaggc aagagaatcg cttgaaccca ggaggcggag gttgcagtga
     5101 gccgagatcg tgccactgca ctccagcctg ggtgacagag caagactccg tctcaaaaaa
     5161 aaaaaaaaaa aaagaaatat acatgctctg caaatatgtg aaaaaggtca atctccatga
     5221 ataaaaatat gataaaacca
//
LOCUS       NM_000059              11954 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens BRCA2 DNA repair associated (BRCA2), transcript variant
            1, mRNA.
ACCESSION   NM_000059
VERSION     NM_000059.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 11954)
  AUTHORS   Setton J, Hadi K, Choo ZN, Kuchin KS, Tian H, Da Cruz Paula A,
            Rosiene J, Selenica P, Behr J, Yao X, Deshpande A, Sigouros M,
            Manohar J, Nauseef JT, Mosquera JM, Elemento O, Weigelt B, Riaz N,
            Reis-Filho JS, Powell SN and Imielinski M.
  TITLE     Long-molecule scars of backup DNA repair in BRCA1- and
            BRCA2-deficient cancers
  JOURNAL   Nature 621 (7977), 129-137 (2023)
   PUBMED   37587346
  REMARK    GeneRIF: Long-molecule scars of backup DNA repair in BRCA1- and
            BRCA2-deficient cancers.
REFERENCE   2  (bases 1 to 11954)
  AUTHORS   Chan LN, Chen LM, Goldman M, Mak JS, Bauer DC, Boscardin J, Schembri
            M, Bae-Jump V, Friedman S and Jacoby VL.
  TITLE     Changes in Bone Density in Carriers of BRCA1 and BRCA2 Pathogenic
            Variants After Salpingo-Oophorectomy
  JOURNAL   Obstet Gynecol 142 (1), 160-169 (2023)
   PUBMED   37290104
  REMARK    GeneRIF: Changes in Bone Density in Carriers of BRCA1 and BRCA2
            Pathogenic Variants After Salpingo-Oophorectomy.
REFERENCE   3  (bases 1 to 11954)
  AUTHORS   Khan Y, Khan NU, Ali I, Khan S, Khan AU, Iqbal A and Adams BD.
  TITLE     Significant association of BRCA1 (rs1799950), BRCA2 (rs144848) and
            TP53 (rs1042522) polymorphism with breast cancer risk in Pashtun
            population of Khyber Pakhtunkhwa, Pakistan
  JOURNAL   Mol Biol Rep 50 (7), 6087-6096 (2023)
   PUBMED   37300745
  REMARK    GeneRIF: Significant association of BRCA1 (rs1799950), BRCA2
            (rs144848) and TP53 (rs1042522) polymorphism with breast cancer risk
            in Pashtun population of Khyber Pakhtunkhwa, Pakistan.
REFERENCE   4  (bases 1 to 11954)
  AUTHORS   Kast K, John EM, Hopper JL, Andrieu N, Nogues C, Mouret-Fourme E,
            Lasset C, Fricker JP, Berthet P, Mari V, Salle L, Schmidt MK, Ausems
            MGEM, Garcia EBG, van de Beek I, Wevers MR, Evans DG, Tischkowitz M,
            Lalloo F, Cook J, Izatt L, Tripathi V, Snape K, Musgrave H, Sharif
            S, Murray J, Colonna SV, Andrulis IL, Daly MB, Southey MC, de la
            Hoya M, Osorio A, Foretova L, Berkova D, Gerdes AM, Olah E,
            Jakubowska A, Singer CF, Tan Y, Augustinsson A, Rantala J, Simard J,
            Schmutzler RK, Milne RL, Phillips KA, Terry MB, Goldgar D, van
            Leeuwen FE, Mooij TM, Antoniou AC, Easton DF, Rookus MA and Engel C.
  CONSRTM   EMBRACE Collaborators
  TITLE     Associations of height, body mass index, and weight gain with breast
            cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2:
            the BRCA1 and BRCA2 Cohort Consortium
  JOURNAL   Breast Cancer Res 25 (1), 72 (2023)
   PUBMED   37340476
  REMARK    GeneRIF: Associations of height, body mass index, and weight gain
            with breast cancer risk in carriers of a pathogenic variant in BRCA1
            or BRCA2: the BRCA1 and BRCA2 Cohort Consortium. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 11954)
  AUTHORS   Whitney M, Thayer M, Reifsteck C, Olson S, Smith L, Jakobs PM, Leach
            R, Naylor S, Joenje H and Grompe M.
  TITLE     Microcell mediated chromosome transfer maps the Fanconi anaemia
            group D gene to chromosome 3p
  JOURNAL   Nat Genet 11 (3), 341-343 (1995)
   PUBMED   7581463
REFERENCE   6  (bases 1 to 11954)
  AUTHORS   Schutte M, da Costa LT, Hahn SA, Moskaluk C, Hoque AT, Rozenblum E,
            Weinstein CL, Bittner M, Meltzer PS, Trent JM et al.
  TITLE     Identification by representational difference analysis of a
            homozygous deletion in pancreatic carcinoma that lies within the
            BRCA2 region
  JOURNAL   Proc Natl Acad Sci U S A 92 (13), 5950-5954 (1995)
   PUBMED   7597059
REFERENCE   7  (bases 1 to 11954)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301575
REFERENCE   8  (bases 1 to 11954)
  AUTHORS   Turner,J.T., Brzezinski,J. and Dome,J.S.
  TITLE     Wilms Tumor Predisposition
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301471
REFERENCE   9  (bases 1 to 11954)
  AUTHORS   Petrucelli,N., Daly,M.B. and Pal,T.
  TITLE     BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301425
REFERENCE   10  (bases 1 to 11954)
  AUTHORS   Watson,C.G.
  TITLE     The life of a resolution--how ADA policy is made
  JOURNAL   J Conf Workshop, 14-23 (1975)
   PUBMED   1072445
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3812502.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380152.8/ ENSP00000369497.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL445212.9 and AL137247.14.
            On Feb 27, 2020 this sequence version replaced NM_000059.3.
            Summary: Inherited mutations in BRCA1 and this gene, BRCA2, confer
            increased lifetime risk of developing breast or ovarian cancer.
            Both BRCA1 and BRCA2 are involved in maintenance of genome
            stability, specifically the homologous recombination pathway for
            double-strand DNA repair. The largest exon in both genes is exon
            11, which harbors the most important and frequent mutations in
            breast cancer patients. The BRCA2 gene was found on chromosome
            13q12.3 in human. The BRCA2 protein contains several copies of a 70
            aa motif called the BRC motif, and these motifs mediate binding to
            the RAD51 recombinase which functions in DNA repair. BRCA2 is
            considered a tumor suppressor gene, as tumors with BRCA2 mutations
            generally exhibit loss of heterozygosity (LOH) of the wild-type
            allele. [provided by RefSeq, May 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..11954
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.1"
     gene            1..11954
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="BRCA2 DNA repair associated"
                     /db_xref="GeneID:675"
                     /db_xref="HGNC:HGNC:1101"
                     /db_xref="MIM:600185"
     misc_feature    191..193
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="upstream in-frame stop codon"
     CDS             200..10456
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     BRCA1/BRCA2-containing complex, subunit 2; breast cancer
                     type 2 susceptibility protein; DNA repair-associated BRCA2;
                     breast cancer 2 tumor suppressor; breast and ovarian cancer
                     susceptibility gene, early onset; Fanconi anemia group D1
                     protein; breast and ovarian cancer susceptibility protein
                     2; breast cancer 2, early onset; mutant BRCA2; mutant DNA
                     repair-associated protein 2"
                     /codon_start=1
                     /product="breast cancer type 2 susceptibility protein
                     isoform 1"
                     /protein_id="NP_000050.3"
                     /db_xref="CCDS:CCDS9344.1"
                     /db_xref="GeneID:675"
                     /db_xref="HGNC:HGNC:1101"
                     /db_xref="MIM:600185"
                     /translation="MPIGSKERPTFFEIFKTRCNKADLGPISLNWFEELSSEAPPYNSE
                     PAEESEHKNNNYEPNLFKTPQRKPSYNQLASTPIIFKEQGLTLPLYQSPVKELDKFKLD
                     LGRNVPNSRHKSLRTVKTKMDQADDVSCPLLNSCLSESPVVLQCTHVTPQRDKSVVCGS
                     LFHTPKFVKGRQTPKHISESLGAEVDPDMSWSSSLATPPTLSSTVLIVRNEEASETVFP
                     HDTTANVKSYFSNHDESLKKNDRFIASVTDSENTNQREAASHGFGKTSGNSFKVNSCKD
                     HIGKSMPNVLEDEVYETVVDTSEEDSFSLCFSKCRTKNLQKVRTSKTRKKIFHEANADE
                     CEKSKNQVKEKYSFVSEVEPNDTDPLDSNVANQKPFESGSDKISKEVVPSLACEWSQLT
                     LSGLNGAQMEKIPLLHISSCDQNISEKDLLDTENKRKKDFLTSENSLPRISSLPKSEKP
                     LNEETVVNKRDEEQHLESHTDCILAVKQAISGTSPVASSFQGIKKSIFRIRESPKETFN
                     ASFSGHMTDPNFKKETEASESGLEIHTVCSQKEDSLCPNLIDNGSWPATTTQNSVALKN
                     AGLISTLKKKTNKFIYAIHDETSYKGKKIPKDQKSELINCSAQFEANAFEAPLTFANAD
                     SGLLHSSVKRSCSQNDSEEPTLSLTSSFGTILRKCSRNETCSNNTVISQDLDYKEAKCN
                     KEKLQLFITPEADSLSCLQEGQCENDPKSKKVSDIKEEVLAAACHPVQHSKVEYSDTDF
                     QSQKSLLYDHENASTLILTPTSKDVLSNLVMISRGKESYKMSDKLKGNNYESDVELTKN
                     IPMEKNQDVCALNENYKNVELLPPEKYMRVASPSRKVQFNQNTNLRVIQKNQEETTSIS
                     KITVNPDSEELFSDNENNFVFQVANERNNLALGNTKELHETDLTCVNEPIFKNSTMVLY
                     GDTGDKQATQVSIKKDLVYVLAEENKNSVKQHIKMTLGQDLKSDISLNIDKIPEKNNDY
                     MNKWAGLLGPISNHSFGGSFRTASNKEIKLSEHNIKKSKMFFKDIEEQYPTSLACVEIV
                     NTLALDNQKKLSKPQSINTVSAHLQSSVVVSDCKNSHITPQMLFSKQDFNSNHNLTPSQ
                     KAEITELSTILEESGSQFEFTQFRKPSYILQKSTFEVPENQMTILKTTSEECRDADLHV
                     IMNAPSIGQVDSSKQFEGTVEIKRKFAGLLKNDCNKSASGYLTDENEVGFRGFYSAHGT
                     KLNVSTEALQKAVKLFSDIENISEETSAEVHPISLSSSKCHDSVVSMFKIENHNDKTVS
                     EKNNKCQLILQNNIEMTTGTFVEEITENYKRNTENEDNKYTAASRNSHNLEFDGSDSSK
                     NDTVCIHKDETDLLFTDQHNICLKLSGQFMKEGNTQIKEDLSDLTFLEVAKAQEACHGN
                     TSNKEQLTATKTEQNIKDFETSDTFFQTASGKNISVAKESFNKIVNFFDQKPEELHNFS
                     LNSELHSDIRKNKMDILSYEETDIVKHKILKESVPVGTGNQLVTFQGQPERDEKIKEPT
                     LLGFHTASGKKVKIAKESLDKVKNLFDEKEQGTSEITSFSHQWAKTLKYREACKDLELA
                     CETIEITAAPKCKEMQNSLNNDKNLVSIETVVPPKLLSDNLCRQTENLKTSKSIFLKVK
                     VHENVEKETAKSPATCYTNQSPYSVIENSALAFYTSCSRKTSVSQTSLLEAKKWLREGI
                     FDGQPERINTADYVGNYLYENNSNSTIAENDKNHLSEKQDTYLSNSSMSNSYSYHSDEV
                     YNDSGYLSKNKLDSGIEPVLKNVEDQKNTSFSKVISNVKDANAYPQTVNEDICVEELVT
                     SSSPCKNKNAAIKLSISNSNNFEVGPPAFRIASGKIVCVSHETIKKVKDIFTDSFSKVI
                     KENNENKSKICQTKIMAGCYEALDDSEDILHNSLDNDECSTHSHKVFADIQSEEILQHN
                     QNMSGLEKVSKISPCDVSLETSDICKCSIGKLHKSVSSANTCGIFSTASGKSVQVSDAS
                     LQNARQVFSEIEDSTKQVFSKVLFKSNEHSDQLTREENTAIRTPEHLISQKGFSYNVVN
                     SSAFSGFSTASGKQVSILESSLHKVKGVLEEFDLIRTEHSLHYSPTSRQNVSKILPRVD
                     KRNPEHCVNSEMEKTCSKEFKLSNNLNVEGGSSENNHSIKVSPYLSQFQQDKQQLVLGT
                     KVSLVENIHVLGKEQASPKNVKMEIGKTETFSDVPVKTNIEVCSTYSKDSENYFETEAV
                     EIAKAFMEDDELTDSKLPSHATHSLFTCPENEEMVLSNSRIGKRRGEPLILVGEPSIKR
                     NLLNEFDRIIENQEKSLKASKSTPDGTIKDRRLFMHHVSLEPITCVPFRTTKERQEIQN
                     PNFTAPGQEFLSKSHLYEHLTLEKSSSNLAVSGHPFYQVSATRNEKMRHLITTGRPTKV
                     FVPPFKTKSHFHRVEQCVRNINLEENRQKQNIDGHGSDDSKNKINDNEIHQFNKNNSNQ
                     AVAVTFTKCEEEPLDLITSLQNARDIQDMRIKKKQRQRVFPQPGSLYLAKTSTLPRISL
                     KAAVGGQVPSACSHKQLYTYGVSKHCIKINSKNAESFQFHTEDYFGKESLWTGKGIQLA
                     DGGWLIPSNDGKAGKEEFYRALCDTPGVDPKLISRIWVYNHYRWIIWKLAAMECAFPKE
                     FANRCLSPERVLLQLKYRYDTEIDRSRRSAIKKIMERDDTAAKTLVLCVSDIISLSANI
                     SETSSNKTSSADTQKVAIIELTDGWYAVKAQLDPPLLAVLKNGRLTVGQKIILHGAELV
                     GSPDACTPLEAPESLMLKISANSTRPARWYTKLGFFPDPRPFPLPLSSLFSDGGNVGCV
                     DVIIQRAYPIQWMEKTSSGLYIFRNEREEEKEAAKYVEAQQKRLEALFTKIQEEFEEHE
                     ENTTKPYLPSRALTRQQVRALQDGAELYEAVKNAADPAYLEGYFSEEQLRALNNHRQML
                     NDKKQAQIQLEIRKAMESAEQKEQGLSRDVTTVWKLRIVSYSKKEKDSVILSIWRPSSD
                     LYSLLTEGKRYRIYHLATSKSKSKSERANIQLAATKKTQYQQLPVSDEILFQIYQPREP
                     LHFSKFLDPDFQPSCSEVDLIGFVVSVVKKTGLAPFVYLSDECYNLLAIKFWIDLNEDI
                     IKPHMLIAASNLQWRPESKSGLLTLFAGDFSVFSASPKEGHFQETFNKMKNTVENIDIL
                     CNEAENKLMHILHANDPKWSTPTKDCTSGPYTAQIIPGTGNKLLMSSPNCEIYYQSPLS
                     LCMAKRKSVSTPVSAQMTSKSCKGEKEIDDQKNCKKRRALDFLSRLPLPPPVSPICTFV
                     SPAAQKAFQPPRSCGTKYETPIKKKELNSPQMTPFKKFNEISLLESNSIADEELALINT
                     QALLSGSTGEKQFISVSESTRTAPTSSEDYLRLKRRCTTSLIKEQESSQASTEECEKNK
                     QDTITTKKYI"
     misc_feature    200..319
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="propagated from UniProtKB/Swiss-Prot (P51587.4);
                     Region: Interaction with PALB2"
     misc_feature    308..403
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="propagated from UniProtKB/Swiss-Prot (P51587.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    407..409
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P51587.4); phosphorylation site"
     misc_feature    1271..1342
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="propagated from UniProtKB/Swiss-Prot (P51587.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1532..1534
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P51587.4); phosphorylation site"
     misc_feature    1673..1675
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P51587.4); phosphorylation site"
     misc_feature    2114..3199
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="propagated from UniProtKB/Swiss-Prot (P51587.4);
                     Region: Interaction with NPM1.
                     /evidence=ECO:0000269|PubMed:21084279"
     misc_feature    2462..2464
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (P51587.4); phosphorylation site"
     misc_feature    3203..3307
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="propagated from UniProtKB/Swiss-Prot (P51587.4);
                     Region: BRCA2 1"
     misc_feature    3206..6445
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="propagated from UniProtKB/Swiss-Prot (P51587.4);
                     Region: Interaction with RAD51.
                     /evidence=ECO:0000250|UniProtKB:P97929"
     misc_feature    4211..5542
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="propagated from UniProtKB/Swiss-Prot (P51587.4);
                     Region: Interaction with POLH.
                     /evidence=ECO:0000269|PubMed:24485656"
     misc_feature    4427..4984
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="propagated from UniProtKB/Swiss-Prot (P51587.4);
                     Region: Required for stimulation of POLH DNA polymerization
                     activity"
     misc_feature    6107..6109
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P51587.4); phosphorylation site"
     misc_feature    6302..6304
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P51587.4); phosphorylation site"
     misc_feature    6350..6454
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="propagated from UniProtKB/Swiss-Prot (P51587.4);
                     Region: BRCA2 8"
     misc_feature    6482..6484
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P51587.4); phosphorylation site"
     misc_feature    7007..7210
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="propagated from UniProtKB/Swiss-Prot (P51587.4);
                     Region: Interaction with HSF2BP.
                     /evidence=ECO:0000269|PubMed:31242413"
     misc_feature    7247..7834
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="propagated from UniProtKB/Swiss-Prot (P51587.4);
                     Region: Interaction with FANCD2"
     misc_feature    7487..7549
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="propagated from UniProtKB/Swiss-Prot (P51587.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    7640..8695
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="propagated from UniProtKB/Swiss-Prot (P51587.4);
                     Region: Interaction with SEM1.
                     /evidence=ECO:0000269|PubMed:10373512,
                     ECO:0000269|PubMed:16205630"
     misc_feature    8243..8293
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="propagated from UniProtKB/Swiss-Prot (P51587.4);
                     Region: Nuclear export signal, masked by interaction with
                     SEM1. /evidence=ECO:0000269|PubMed:24013206"
     misc_feature    10070..10072
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="Phosphoserine, by CDK1 and CDK2.
                     /evidence=ECO:0000269|PubMed:15800615; propagated from
                     UniProtKB/Swiss-Prot (P51587.4); phosphorylation site"
     misc_feature    10154..10156
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P51587.4); phosphorylation site"
     misc_feature    10358..10360
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="Phosphothreonine, by CHEK1 and CHEK2.
                     /evidence=ECO:0000269|PubMed:18317453; propagated from
                     UniProtKB/Swiss-Prot (P51587.4); phosphorylation site"
     misc_feature    10376..10453
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="propagated from UniProtKB/Swiss-Prot (P51587.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      11933..11938
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="hexamer: AATAAA"
     polyA_site      11954
                     /gene="BRCA2"
                     /gene_synonym="BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD;
                     FANCD1; GLM3; PNCA2; XRCC11"
                     /note="major polyA site"
ORIGIN
        1 agaggcggag ccgctgtggc actgctgcgc ctctgctgcg cctcgggtgt cttttgcggc
       61 ggtgggtcgc cgccgggaga agcgtgaggg gacagatttg tgaccggcgc ggtttttgtc
      121 agcttactcc ggccaaaaaa gaactgcacc tctggagcgg acttatttac caagcattgg
      181 aggaatatcg taggtaaaaa tgcctattgg atccaaagag aggccaacat tttttgaaat
      241 ttttaagaca cgctgcaaca aagcagattt aggaccaata agtcttaatt ggtttgaaga
      301 actttcttca gaagctccac cctataattc tgaacctgca gaagaatctg aacataaaaa
      361 caacaattac gaaccaaacc tatttaaaac tccacaaagg aaaccatctt ataatcagct
      421 ggcttcaact ccaataatat tcaaagagca agggctgact ctgccgctgt accaatctcc
      481 tgtaaaagaa ttagataaat tcaaattaga cttaggaagg aatgttccca atagtagaca
      541 taaaagtctt cgcacagtga aaactaaaat ggatcaagca gatgatgttt cctgtccact
      601 tctaaattct tgtcttagtg aaagtcctgt tgttctacaa tgtacacatg taacaccaca
      661 aagagataag tcagtggtat gtgggagttt gtttcataca ccaaagtttg tgaagggtcg
      721 tcagacacca aaacatattt ctgaaagtct aggagctgag gtggatcctg atatgtcttg
      781 gtcaagttct ttagctacac cacccaccct tagttctact gtgctcatag tcagaaatga
      841 agaagcatct gaaactgtat ttcctcatga tactactgct aatgtgaaaa gctatttttc
      901 caatcatgat gaaagtctga agaaaaatga tagatttatc gcttctgtga cagacagtga
      961 aaacacaaat caaagagaag ctgcaagtca tggatttgga aaaacatcag ggaattcatt
     1021 taaagtaaat agctgcaaag accacattgg aaagtcaatg ccaaatgtcc tagaagatga
     1081 agtatatgaa acagttgtag atacctctga agaagatagt ttttcattat gtttttctaa
     1141 atgtagaaca aaaaatctac aaaaagtaag aactagcaag actaggaaaa aaattttcca
     1201 tgaagcaaac gctgatgaat gtgaaaaatc taaaaaccaa gtgaaagaaa aatactcatt
     1261 tgtatctgaa gtggaaccaa atgatactga tccattagat tcaaatgtag caaatcagaa
     1321 gccctttgag agtggaagtg acaaaatctc caaggaagtt gtaccgtctt tggcctgtga
     1381 atggtctcaa ctaacccttt caggtctaaa tggagcccag atggagaaaa tacccctatt
     1441 gcatatttct tcatgtgacc aaaatatttc agaaaaagac ctattagaca cagagaacaa
     1501 aagaaagaaa gattttctta cttcagagaa ttctttgcca cgtatttcta gcctaccaaa
     1561 atcagagaag ccattaaatg aggaaacagt ggtaaataag agagatgaag agcagcatct
     1621 tgaatctcat acagactgca ttcttgcagt aaagcaggca atatctggaa cttctccagt
     1681 ggcttcttca tttcagggta tcaaaaagtc tatattcaga ataagagaat cacctaaaga
     1741 gactttcaat gcaagttttt caggtcatat gactgatcca aactttaaaa aagaaactga
     1801 agcctctgaa agtggactgg aaatacatac tgtttgctca cagaaggagg actccttatg
     1861 tccaaattta attgataatg gaagctggcc agccaccacc acacagaatt ctgtagcttt
     1921 gaagaatgca ggtttaatat ccactttgaa aaagaaaaca aataagttta tttatgctat
     1981 acatgatgaa acatcttata aaggaaaaaa aataccgaaa gaccaaaaat cagaactaat
     2041 taactgttca gcccagtttg aagcaaatgc ttttgaagca ccacttacat ttgcaaatgc
     2101 tgattcaggt ttattgcatt cttctgtgaa aagaagctgt tcacagaatg attctgaaga
     2161 accaactttg tccttaacta gctcttttgg gacaattctg aggaaatgtt ctagaaatga
     2221 aacatgttct aataatacag taatctctca ggatcttgat tataaagaag caaaatgtaa
     2281 taaggaaaaa ctacagttat ttattacccc agaagctgat tctctgtcat gcctgcagga
     2341 aggacagtgt gaaaatgatc caaaaagcaa aaaagtttca gatataaaag aagaggtctt
     2401 ggctgcagca tgtcacccag tacaacattc aaaagtggaa tacagtgata ctgactttca
     2461 atcccagaaa agtcttttat atgatcatga aaatgccagc actcttattt taactcctac
     2521 ttccaaggat gttctgtcaa acctagtcat gatttctaga ggcaaagaat catacaaaat
     2581 gtcagacaag ctcaaaggta acaattatga atctgatgtt gaattaacca aaaatattcc
     2641 catggaaaag aatcaagatg tatgtgcttt aaatgaaaat tataaaaacg ttgagctgtt
     2701 gccacctgaa aaatacatga gagtagcatc accttcaaga aaggtacaat tcaaccaaaa
     2761 cacaaatcta agagtaatcc aaaaaaatca agaagaaact acttcaattt caaaaataac
     2821 tgtcaatcca gactctgaag aacttttctc agacaatgag aataattttg tcttccaagt
     2881 agctaatgaa aggaataatc ttgctttagg aaatactaag gaacttcatg aaacagactt
     2941 gacttgtgta aacgaaccca ttttcaagaa ctctaccatg gttttatatg gagacacagg
     3001 tgataaacaa gcaacccaag tgtcaattaa aaaagatttg gtttatgttc ttgcagagga
     3061 gaacaaaaat agtgtaaagc agcatataaa aatgactcta ggtcaagatt taaaatcgga
     3121 catctccttg aatatagata aaataccaga aaaaaataat gattacatga acaaatgggc
     3181 aggactctta ggtccaattt caaatcacag ttttggaggt agcttcagaa cagcttcaaa
     3241 taaggaaatc aagctctctg aacataacat taagaagagc aaaatgttct tcaaagatat
     3301 tgaagaacaa tatcctacta gtttagcttg tgttgaaatt gtaaatacct tggcattaga
     3361 taatcaaaag aaactgagca agcctcagtc aattaatact gtatctgcac atttacagag
     3421 tagtgtagtt gtttctgatt gtaaaaatag tcatataacc cctcagatgt tattttccaa
     3481 gcaggatttt aattcaaacc ataatttaac acctagccaa aaggcagaaa ttacagaact
     3541 ttctactata ttagaagaat caggaagtca gtttgaattt actcagttta gaaaaccaag
     3601 ctacatattg cagaagagta catttgaagt gcctgaaaac cagatgacta tcttaaagac
     3661 cacttctgag gaatgcagag atgctgatct tcatgtcata atgaatgccc catcgattgg
     3721 tcaggtagac agcagcaagc aatttgaagg tacagttgaa attaaacgga agtttgctgg
     3781 cctgttgaaa aatgactgta acaaaagtgc ttctggttat ttaacagatg aaaatgaagt
     3841 ggggtttagg ggcttttatt ctgctcatgg cacaaaactg aatgtttcta ctgaagctct
     3901 gcaaaaagct gtgaaactgt ttagtgatat tgagaatatt agtgaggaaa cttctgcaga
     3961 ggtacatcca ataagtttat cttcaagtaa atgtcatgat tctgttgttt caatgtttaa
     4021 gatagaaaat cataatgata aaactgtaag tgaaaaaaat aataaatgcc aactgatatt
     4081 acaaaataat attgaaatga ctactggcac ttttgttgaa gaaattactg aaaattacaa
     4141 gagaaatact gaaaatgaag ataacaaata tactgctgcc agtagaaatt ctcataactt
     4201 agaatttgat ggcagtgatt caagtaaaaa tgatactgtt tgtattcata aagatgaaac
     4261 ggacttgcta tttactgatc agcacaacat atgtcttaaa ttatctggcc agtttatgaa
     4321 ggagggaaac actcagatta aagaagattt gtcagattta acttttttgg aagttgcgaa
     4381 agctcaagaa gcatgtcatg gtaatacttc aaataaagaa cagttaactg ctactaaaac
     4441 ggagcaaaat ataaaagatt ttgagacttc tgatacattt tttcagactg caagtgggaa
     4501 aaatattagt gtcgccaaag agtcatttaa taaaattgta aatttctttg atcagaaacc
     4561 agaagaattg cataactttt ccttaaattc tgaattacat tctgacataa gaaagaacaa
     4621 aatggacatt ctaagttatg aggaaacaga catagttaaa cacaaaatac tgaaagaaag
     4681 tgtcccagtt ggtactggaa atcaactagt gaccttccag ggacaacccg aacgtgatga
     4741 aaagatcaaa gaacctactc tattgggttt tcatacagct agcgggaaaa aagttaaaat
     4801 tgcaaaggaa tctttggaca aagtgaaaaa cctttttgat gaaaaagagc aaggtactag
     4861 tgaaatcacc agttttagcc atcaatgggc aaagacccta aagtacagag aggcctgtaa
     4921 agaccttgaa ttagcatgtg agaccattga gatcacagct gccccaaagt gtaaagaaat
     4981 gcagaattct ctcaataatg ataaaaacct tgtttctatt gagactgtgg tgccacctaa
     5041 gctcttaagt gataatttat gtagacaaac tgaaaatctc aaaacatcaa aaagtatctt
     5101 tttgaaagtt aaagtacatg aaaatgtaga aaaagaaaca gcaaaaagtc ctgcaacttg
     5161 ttacacaaat cagtcccctt attcagtcat tgaaaattca gccttagctt tttacacaag
     5221 ttgtagtaga aaaacttctg tgagtcagac ttcattactt gaagcaaaaa aatggcttag
     5281 agaaggaata tttgatggtc aaccagaaag aataaatact gcagattatg taggaaatta
     5341 tttgtatgaa aataattcaa acagtactat agctgaaaat gacaaaaatc atctctccga
     5401 aaaacaagat acttatttaa gtaacagtag catgtctaac agctattcct accattctga
     5461 tgaggtatat aatgattcag gatatctctc aaaaaataaa cttgattctg gtattgagcc
     5521 agtattgaag aatgttgaag atcaaaaaaa cactagtttt tccaaagtaa tatccaatgt
     5581 aaaagatgca aatgcatacc cacaaactgt aaatgaagat atttgcgttg aggaacttgt
     5641 gactagctct tcaccctgca aaaataaaaa tgcagccatt aaattgtcca tatctaatag
     5701 taataatttt gaggtagggc cacctgcatt taggatagcc agtggtaaaa tcgtttgtgt
     5761 ttcacatgaa acaattaaaa aagtgaaaga catatttaca gacagtttca gtaaagtaat
     5821 taaggaaaac aacgagaata aatcaaaaat ttgccaaacg aaaattatgg caggttgtta
     5881 cgaggcattg gatgattcag aggatattct tcataactct ctagataatg atgaatgtag
     5941 cacgcattca cataaggttt ttgctgacat tcagagtgaa gaaattttac aacataacca
     6001 aaatatgtct ggattggaga aagtttctaa aatatcacct tgtgatgtta gtttggaaac
     6061 ttcagatata tgtaaatgta gtatagggaa gcttcataag tcagtctcat ctgcaaatac
     6121 ttgtgggatt tttagcacag caagtggaaa atctgtccag gtatcagatg cttcattaca
     6181 aaacgcaaga caagtgtttt ctgaaataga agatagtacc aagcaagtct tttccaaagt
     6241 attgtttaaa agtaacgaac attcagacca gctcacaaga gaagaaaata ctgctatacg
     6301 tactccagaa catttaatat cccaaaaagg cttttcatat aatgtggtaa attcatctgc
     6361 tttctctgga tttagtacag caagtggaaa gcaagtttcc attttagaaa gttccttaca
     6421 caaagttaag ggagtgttag aggaatttga tttaatcaga actgagcata gtcttcacta
     6481 ttcacctacg tctagacaaa atgtatcaaa aatacttcct cgtgttgata agagaaaccc
     6541 agagcactgt gtaaactcag aaatggaaaa aacctgcagt aaagaattta aattatcaaa
     6601 taacttaaat gttgaaggtg gttcttcaga aaataatcac tctattaaag tttctccata
     6661 tctctctcaa tttcaacaag acaaacaaca gttggtatta ggaaccaaag tgtcacttgt
     6721 tgagaacatt catgttttgg gaaaagaaca ggcttcacct aaaaacgtaa aaatggaaat
     6781 tggtaaaact gaaacttttt ctgatgttcc tgtgaaaaca aatatagaag tttgttctac
     6841 ttactccaaa gattcagaaa actactttga aacagaagca gtagaaattg ctaaagcttt
     6901 tatggaagat gatgaactga cagattctaa actgccaagt catgccacac attctctttt
     6961 tacatgtccc gaaaatgagg aaatggtttt gtcaaattca agaattggaa aaagaagagg
     7021 agagcccctt atcttagtgg gagaaccctc aatcaaaaga aacttattaa atgaatttga
     7081 caggataata gaaaatcaag aaaaatcctt aaaggcttca aaaagcactc cagatggcac
     7141 aataaaagat cgaagattgt ttatgcatca tgtttcttta gagccgatta cctgtgtacc
     7201 ctttcgcaca actaaggaac gtcaagagat acagaatcca aattttaccg cacctggtca
     7261 agaatttctg tctaaatctc atttgtatga acatctgact ttggaaaaat cttcaagcaa
     7321 tttagcagtt tcaggacatc cattttatca agtttctgct acaagaaatg aaaaaatgag
     7381 acacttgatt actacaggca gaccaaccaa agtctttgtt ccacctttta aaactaaatc
     7441 acattttcac agagttgaac agtgtgttag gaatattaac ttggaggaaa acagacaaaa
     7501 gcaaaacatt gatggacatg gctctgatga tagtaaaaat aagattaatg acaatgagat
     7561 tcatcagttt aacaaaaaca actccaatca agcagtagct gtaactttca caaagtgtga
     7621 agaagaacct ttagatttaa ttacaagtct tcagaatgcc agagatatac aggatatgcg
     7681 aattaagaag aaacaaaggc aacgcgtctt tccacagcca ggcagtctgt atcttgcaaa
     7741 aacatccact ctgcctcgaa tctctctgaa agcagcagta ggaggccaag ttccctctgc
     7801 gtgttctcat aaacagctgt atacgtatgg cgtttctaaa cattgcataa aaattaacag
     7861 caaaaatgca gagtcttttc agtttcacac tgaagattat tttggtaagg aaagtttatg
     7921 gactggaaaa ggaatacagt tggctgatgg tggatggctc ataccctcca atgatggaaa
     7981 ggctggaaaa gaagaatttt atagggctct gtgtgacact ccaggtgtgg atccaaagct
     8041 tatttctaga atttgggttt ataatcacta tagatggatc atatggaaac tggcagctat
     8101 ggaatgtgcc tttcctaagg aatttgctaa tagatgccta agcccagaaa gggtgcttct
     8161 tcaactaaaa tacagatatg atacggaaat tgatagaagc agaagatcgg ctataaaaaa
     8221 gataatggaa agggatgaca cagctgcaaa aacacttgtt ctctgtgttt ctgacataat
     8281 ttcattgagc gcaaatatat ctgaaacttc tagcaataaa actagtagtg cagataccca
     8341 aaaagtggcc attattgaac ttacagatgg gtggtatgct gttaaggccc agttagatcc
     8401 tcccctctta gctgtcttaa agaatggcag actgacagtt ggtcagaaga ttattcttca
     8461 tggagcagaa ctggtgggct ctcctgatgc ctgtacacct cttgaagccc cagaatctct
     8521 tatgttaaag atttctgcta acagtactcg gcctgctcgc tggtatacca aacttggatt
     8581 ctttcctgac cctagacctt ttcctctgcc cttatcatcg cttttcagtg atggaggaaa
     8641 tgttggttgt gttgatgtaa ttattcaaag agcataccct atacagtgga tggagaagac
     8701 atcatctgga ttatacatat ttcgcaatga aagagaggaa gaaaaggaag cagcaaaata
     8761 tgtggaggcc caacaaaaga gactagaagc cttattcact aaaattcagg aggaatttga
     8821 agaacatgaa gaaaacacaa caaaaccata tttaccatca cgtgcactaa caagacagca
     8881 agttcgtgct ttgcaagatg gtgcagagct ttatgaagca gtgaagaatg cagcagaccc
     8941 agcttacctt gagggttatt tcagtgaaga gcagttaaga gccttgaata atcacaggca
     9001 aatgttgaat gataagaaac aagctcagat ccagttggaa attaggaagg ccatggaatc
     9061 tgctgaacaa aaggaacaag gtttatcaag ggatgtcaca accgtgtgga agttgcgtat
     9121 tgtaagctat tcaaaaaaag aaaaagattc agttatactg agtatttggc gtccatcatc
     9181 agatttatat tctctgttaa cagaaggaaa gagatacaga atttatcatc ttgcaacttc
     9241 aaaatctaaa agtaaatctg aaagagctaa catacagtta gcagcgacaa aaaaaactca
     9301 gtatcaacaa ctaccggttt cagatgaaat tttatttcag atttaccagc cacgggagcc
     9361 ccttcacttc agcaaatttt tagatccaga ctttcagcca tcttgttctg aggtggacct
     9421 aataggattt gtcgtttctg ttgtgaaaaa aacaggactt gcccctttcg tctatttgtc
     9481 agacgaatgt tacaatttac tggcaataaa gttttggata gaccttaatg aggacattat
     9541 taagcctcat atgttaattg ctgcaagcaa cctccagtgg cgaccagaat ccaaatcagg
     9601 ccttcttact ttatttgctg gagatttttc tgtgttttct gctagtccaa aagagggcca
     9661 ctttcaagag acattcaaca aaatgaaaaa tactgttgag aatattgaca tactttgcaa
     9721 tgaagcagaa aacaagctta tgcatatact gcatgcaaat gatcccaagt ggtccacccc
     9781 aactaaagac tgtacttcag ggccgtacac tgctcaaatc attcctggta caggaaacaa
     9841 gcttctgatg tcttctccta attgtgagat atattatcaa agtcctttat cactttgtat
     9901 ggccaaaagg aagtctgttt ccacacctgt ctcagcccag atgacttcaa agtcttgtaa
     9961 aggggagaaa gagattgatg accaaaagaa ctgcaaaaag agaagagcct tggatttctt
    10021 gagtagactg cctttacctc cacctgttag tcccatttgt acatttgttt ctccggctgc
    10081 acagaaggca tttcagccac caaggagttg tggcaccaaa tacgaaacac ccataaagaa
    10141 aaaagaactg aattctcctc agatgactcc atttaaaaaa ttcaatgaaa tttctctttt
    10201 ggaaagtaat tcaatagctg acgaagaact tgcattgata aatacccaag ctcttttgtc
    10261 tggttcaaca ggagaaaaac aatttatatc tgtcagtgaa tccactagga ctgctcccac
    10321 cagttcagaa gattatctca gactgaaacg acgttgtact acatctctga tcaaagaaca
    10381 ggagagttcc caggccagta cggaagaatg tgagaaaaat aagcaggaca caattacaac
    10441 taaaaaatat atctaagcat ttgcaaaggc gacaataaat tattgacgct taacctttcc
    10501 agtttataag actggaatat aatttcaaac cacacattag tacttatgtt gcacaatgag
    10561 aaaagaaatt agtttcaaat ttacctcagc gtttgtgtat cgggcaaaaa tcgttttgcc
    10621 cgattccgta ttggtatact tttgcttcag ttgcatatct taaaactaaa tgtaatttat
    10681 taactaatca agaaaaacat ctttggctga gctcggtggc tcatgcctgt aatcccaaca
    10741 ctttgagaag ctgaggtggg aggagtgctt gaggccagga gttcaagacc agcctgggca
    10801 acatagggag acccccatct ttacaaagaa aaaaaaaagg ggaaaagaaa atcttttaaa
    10861 tctttggatt tgatcactac aagtattatt ttacaagtga aataaacata ccattttctt
    10921 ttagattgtg tcattaaatg gaatgaggtc tcttagtaca gttattttga tgcagataat
    10981 tccttttagt ttagctacta ttttagggga ttttttttag aggtaactca ctatgaaata
    11041 gttctcctta atgcaaatat gttggttctg ctatagttcc atcctgttca aaagtcagga
    11101 tgaatatgaa gagtggtgtt tccttttgag caattcttca tccttaagtc agcatgatta
    11161 taagaaaaat agaaccctca gtgtaactct aattcctttt tactattcca gtgtgatctc
    11221 tgaaattaaa ttacttcaac taaaaattca aatactttaa atcagaagat ttcatagtta
    11281 atttattttt tttttcaaca aaatggtcat ccaaactcaa acttgagaaa atatcttgct
    11341 ttcaaattgg cactgattct gcctgcttta tttttagcgc tatcacagga cccagagcct
    11401 atgccctttt aaacttacca caaaagcaga agattaattc aatttaagat gatactctca
    11461 tttgttacgt cctttttttt tttttttgga gatggagtct tgctttgtcg cccatgctgg
    11521 agtgcagtgg catgatcctg gctcactgca gcctccactt cccgggttca cgtaattctc
    11581 ccacctcaag cctccctagt agctgggatt acagggacgc accaccatgc ccagctaatt
    11641 tttgcatttt tagtagagac tgggttttac catgttggcc aagctggtct caaactcctg
    11701 atgtcaggtg atccatctgc ctcagcctcc caaagtgctg ggattatagg cgtgagccac
    11761 tgtgcccggc caatatttgt tactttctta ggtttaatag agaaaaggga taaaacattt
    11821 ctaactggga gttaattgca tggagaaggt cttaaatcag atgttttaat gccttaaatg
    11881 tctgtataat atcatgtttt caaatctaat tataaatacg tttaaagcca agaataaatc
    11941 ttttaaaaaa ttga
//
LOCUS       NM_000061               2575 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens Bruton tyrosine kinase (BTK), transcript variant 1,
            mRNA.
ACCESSION   NM_000061
VERSION     NM_000061.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2575)
  AUTHORS   Leichtle F, Betzler AC, Eizenberger C, Lesakova K, Ezic J, Drees R,
            Greve J, Schuler PJ, Laban S, Hoffmann TK, Cordes N, Lavitrano M,
            Grassilli E and Brunner C.
  TITLE     Influence of Bruton's Tyrosine Kinase (BTK) on
            Epithelial-Mesenchymal Transition (EMT) Processes and Cancer Stem
            Cell (CSC) Enrichment in Head and Neck Squamous Cell Carcinoma
            (HNSCC)
  JOURNAL   Int J Mol Sci 24 (17), 13133 (2023)
   PUBMED   37685940
  REMARK    GeneRIF: Influence of Bruton's Tyrosine Kinase (BTK) on
            Epithelial-Mesenchymal Transition (EMT) Processes and Cancer Stem
            Cell (CSC) Enrichment in Head and Neck Squamous Cell Carcinoma
            (HNSCC). Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2575)
  AUTHORS   Ren W, Yue C, Liu L, Du L, Xu K and Zhou Y.
  TITLE     Overexpression of Bruton Tyrosine Kinase Inhibits the Proliferation,
            Migration, and Invasion of Non-Small Cell Lung Cancer Cells
  JOURNAL   Anal Cell Pathol (Amst) 2023, 3377316 (2023)
   PUBMED   37638060
  REMARK    GeneRIF: Overexpression of Bruton Tyrosine Kinase Inhibits the
            Proliferation, Migration, and Invasion of Non-Small Cell Lung Cancer
            Cells. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2575)
  AUTHORS   Kater AP and Eichhorst B.
  TITLE     Inhibiting BTK in Chronic Lymphocytic Leukemia
  JOURNAL   N Engl J Med 389 (1), 83-86 (2023)
   PUBMED   37407007
  REMARK    GeneRIF: Inhibiting BTK in Chronic Lymphocytic Leukemia.
REFERENCE   4  (bases 1 to 2575)
  AUTHORS   Zhang P, Solari FA, Heemskerk JWM, Kuijpers MJE, Sickmann A, Walter
            U and Jurk K.
  TITLE     Differential Regulation of GPVI-Induced Btk and Syk Activation by
            PKC, PKA and PP2A in Human Platelets
  JOURNAL   Int J Mol Sci 24 (9), 7776 (2023)
   PUBMED   37175486
  REMARK    GeneRIF: Differential Regulation of GPVI-Induced Btk and Syk
            Activation by PKC, PKA and PP2A in Human Platelets. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 2575)
  AUTHORS   Jiang VC, Liu Y, Lian J, Huang S, Jordan A, Cai Q, Lin R, Yan F,
            McIntosh J, Li Y, Che Y, Chen Z, Vargas J, Badillo M, Bigcal JN, Lee
            HH, Wang W, Yao Y, Nie L, Flowers CR and Wang M.
  TITLE     Cotargeting of BTK and MALT1 overcomes resistance to BTK inhibitors
            in mantle cell lymphoma
  JOURNAL   J Clin Invest 133 (3), e165694 (2023)
   PUBMED   36719376
  REMARK    GeneRIF: Cotargeting of BTK and MALT1 overcomes resistance to BTK
            inhibitors in mantle cell lymphoma. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2575)
  AUTHORS   Yao L, Kawakami Y and Kawakami T.
  TITLE     The pleckstrin homology domain of Bruton tyrosine kinase interacts
            with protein kinase C
  JOURNAL   Proc Natl Acad Sci U S A 91 (19), 9175-9179 (1994)
   PUBMED   7522330
REFERENCE   7  (bases 1 to 2575)
  AUTHORS   Kawakami Y, Yao L, Miura T, Tsukada S, Witte ON and Kawakami T.
  TITLE     Tyrosine phosphorylation and activation of Bruton tyrosine kinase
            upon Fc epsilon RI cross-linking
  JOURNAL   Mol Cell Biol 14 (8), 5108-5113 (1994)
   PUBMED   7518558
REFERENCE   8  (bases 1 to 2575)
  AUTHORS   Smith,C.I.E. and Berglof,A.
  TITLE     X-Linked Agammaglobulinemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301626
REFERENCE   9  (bases 1 to 2575)
  AUTHORS   Timmers E, Kenter M, Thompson A, Kraakman ME, Berman JE, Alt FW and
            Schuurman RK.
  TITLE     Diversity of immunoglobulin heavy chain gene segment rearrangement
            in B lymphoblastoid cell lines from X-linked agammaglobulinemia
            patients
  JOURNAL   Eur J Immunol 21 (10), 2355-2363 (1991)
   PUBMED   1915549
REFERENCE   10  (bases 1 to 2575)
  AUTHORS   Mensink,E.J., Thompson,A., Schot,J.D., Kraakman,M.E., Sandkuyl,L.A.
            and Schuurman,R.K.
  TITLE     Genetic heterogeneity in X-linked agammaglobulinemia complicates
            carrier detection and prenatal diagnosis
  JOURNAL   Clin Genet 31 (2), 91-96 (1987)
   PUBMED   2881637
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK314382.1, BC109079.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000308731.8/ ENSP00000308176.8
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA619542.1, BC109079.1,
            DB636737.1 and AK057105.1.
            On Dec 4, 2019 this sequence version replaced NM_000061.2.
            Summary: The protein encoded by this gene plays a crucial role in
            B-cell development. Mutations in this gene cause X-linked
            agammaglobulinemia type 1, which is an immunodeficiency
            characterized by the failure to produce mature B lymphocytes, and
            associated with a failure of Ig heavy chain rearrangement.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Dec 2013].
            Transcript Variant: This variant (1) encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2575
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     gene            1..2575
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="Bruton tyrosine kinase"
                     /db_xref="GeneID:695"
                     /db_xref="HGNC:HGNC:1133"
                     /db_xref="MIM:300300"
     misc_feature    116..118
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="upstream in-frame stop codon"
     CDS             161..2140
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /EC_number="2.7.10.2"
                     /note="isoform 1 is encoded by transcript variant 1; B-cell
                     progenitor kinase; Bruton's tyrosine kinase;
                     dominant-negative kinase-deficient Brutons tyrosine kinase;
                     agammaglobulinaemia tyrosine kinase; Bruton
                     agammaglobulinemia tyrosine kinase"
                     /codon_start=1
                     /product="tyrosine-protein kinase BTK isoform 1"
                     /protein_id="NP_000052.1"
                     /db_xref="CCDS:CCDS14482.1"
                     /db_xref="GeneID:695"
                     /db_xref="HGNC:HGNC:1133"
                     /db_xref="MIM:300300"
                     /translation="MAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFE
                     RGRRGSKKGSIDVEKITCVETVVPEKNPPPERQIPRRGEESSEMEQISIIERFPYPFQV
                     VYDEGPLYVFSPTEELRKRWIHQLKNVIRYNSDLVQKYHPCFWIDGQYLCCSQTAKNAM
                     GCQILENRNGSLKPGSSHRKTKKPLPPTPEEDQILKKPLPPEPAAAPVSTSELKKVVAL
                     YDYMPMNANDLQLRKGDEYFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYEW
                     YSKHMTRSQAEQLLKQEGKEGGFIVRDSSKAGKYTVSVFAKSTGDPQGVIRHYVVCSTP
                     QSQYYLAEKHLFSTIPELINYHQHNSAGLISRLKYPVSQQNKNAPSTAGLGYGSWEIDP
                     KDLTFLKELGTGQFGVVKYGKWRGQYDVAIKMIKEGSMSEDEFIEEAKVMMNLSHEKLV
                     QLYGVCTKQRPIFIITEYMANGCLLNYLREMRHRFQTQQLLEMCKDVCEAMEYLESKQF
                     LHRDLAARNCLVNDQGVVKVSDFGLSRYVLDDEYTSSVGSKFPVRWSPPEVLMYSKFSS
                     KSDIWAFGVLMWEIYSLGKMPYERFTNSETAEHIAQGLRLYRPHLASEKVYTIMYSCWH
                     EKADERPTFKILLSNILDVMDEES"
     misc_feature    164..166
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.11,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (Q06187.3); acetylation site"
     misc_feature    194..232
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06187.3);
                     Region: Inositol-(1,3,4,5)-tetrakisphosphate 1-binding"
     misc_feature    221..223
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16644721; propagated from
                     UniProtKB/Swiss-Prot (Q06187.3); phosphorylation site"
     misc_feature    278..280
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P35991; propagated from
                     UniProtKB/Swiss-Prot (Q06187.3); phosphorylation site"
     misc_feature    323..325
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q06187.3); phosphorylation site"
     misc_feature    503..505
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16644721; propagated from
                     UniProtKB/Swiss-Prot (Q06187.3); phosphorylation site"
     misc_feature    671..790
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06187.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    698..700
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="Phosphoserine, by PKC/PRKCB.
                     /evidence=ECO:0000269|PubMed:11598012; propagated from
                     UniProtKB/Swiss-Prot (Q06187.3); phosphorylation site"
     misc_feature    731..733
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q06187.3); phosphorylation site"
     misc_feature    827..829
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:12573241,
                     ECO:0000269|PubMed:17932028, ECO:0000269|PubMed:8630736,
                     ECO:0000269|PubMed:9012831, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q06187.3);
                     phosphorylation site"
     misc_feature    1190..1192
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P35991; propagated from
                     UniProtKB/Swiss-Prot (Q06187.3); phosphorylation site"
     misc_feature    1241..1243
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q06187.3); phosphorylation site"
     misc_feature    1811..1813
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="Phosphotyrosine, by LYN and SYK.
                     /evidence=ECO:0000269|PubMed:8630736,
                     ECO:0000269|PubMed:9012831; propagated from
                     UniProtKB/Swiss-Prot (Q06187.3); phosphorylation site"
     misc_feature    1901..1924
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06187.3);
                     Region: CAV1-binding"
     misc_feature    1970..1972
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q06187.3); phosphorylation site"
     misc_feature    2009..2011
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:15375214; propagated from
                     UniProtKB/Swiss-Prot (Q06187.3); phosphorylation site"
     misc_feature    2027..2029
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15375214; propagated from
                     UniProtKB/Swiss-Prot (Q06187.3); phosphorylation site"
     misc_feature    2135..2137
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q06187.3); phosphorylation site"
     regulatory      2551..2556
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="hexamer: AATAAA"
     polyA_site      2575
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="major polyA site"
ORIGIN
        1 agactgtcct tcctctctgg actgtaagaa tatgtctcca gggccagtgt ctgctgcgat
       61 cgagtcccac cttccaagtc ctggcatctc aatgcatctg ggaagctacc tgcattaagt
      121 caggactgag cacacaggtg aactccagaa agaagaagct atggccgcag tgattctgga
      181 gagcatcttt ctgaagcgat cccaacagaa aaagaaaaca tcacctctaa acttcaagaa
      241 gcgcctgttt ctcttgaccg tgcacaaact ctcctactat gagtatgact ttgaacgtgg
      301 gagaagaggc agtaagaagg gttcaataga tgttgagaag atcacttgtg ttgaaacagt
      361 ggttcctgaa aaaaatcctc ctccagaaag acagattccg agaagaggtg aagagtccag
      421 tgaaatggag caaatttcaa tcattgaaag gttcccttat cccttccagg ttgtatatga
      481 tgaagggcct ctctacgtct tctccccaac tgaagaacta aggaagcggt ggattcacca
      541 gctcaaaaac gtaatccggt acaacagtga tctggttcag aaatatcacc cttgcttctg
      601 gatcgatggg cagtatctct gctgctctca gacagccaaa aatgctatgg gctgccaaat
      661 tttggagaac aggaatggaa gcttaaaacc tgggagttct caccggaaga caaaaaagcc
      721 tcttccccca acgcctgagg aggaccagat cttgaaaaag ccactaccgc ctgagccagc
      781 agcagcacca gtctccacaa gtgagctgaa aaaggttgtg gccctttatg attacatgcc
      841 aatgaatgca aatgatctac agctgcggaa gggtgatgaa tattttatct tggaggaaag
      901 caacttacca tggtggagag cacgagataa aaatgggcag gaaggctaca ttcctagtaa
      961 ctatgtcact gaagcagaag actccataga aatgtatgag tggtattcca aacacatgac
     1021 tcggagtcag gctgagcaac tgctaaagca agaggggaaa gaaggaggtt tcattgtcag
     1081 agactccagc aaagctggca aatatacagt gtctgtgttt gctaaatcca caggggaccc
     1141 tcaaggggtg atacgtcatt atgttgtgtg ttccacacct cagagccagt attacctggc
     1201 tgagaagcac cttttcagca ccatccctga gctcattaac taccatcagc acaactctgc
     1261 aggactcata tccaggctca aatatccagt gtctcaacaa aacaagaatg caccttccac
     1321 tgcaggcctg ggatacggat catgggaaat tgatccaaag gacctgacct tcttgaagga
     1381 gctggggact ggacaatttg gggtagtgaa gtatgggaaa tggagaggcc agtacgacgt
     1441 ggccatcaag atgatcaaag aaggctccat gtctgaagat gaattcattg aagaagccaa
     1501 agtcatgatg aatctttccc atgagaagct ggtgcagttg tatggcgtct gcaccaagca
     1561 gcgccccatc ttcatcatca ctgagtacat ggccaatggc tgcctcctga actacctgag
     1621 ggagatgcgc caccgcttcc agactcagca gctgctagag atgtgcaagg atgtctgtga
     1681 agccatggaa tacctggagt caaagcagtt ccttcaccga gacctggcag ctcgaaactg
     1741 tttggtaaac gatcaaggag ttgttaaagt atctgatttc ggcctgtcca ggtatgtcct
     1801 ggatgatgaa tacacaagct cagtaggctc caaatttcca gtccggtggt ccccaccgga
     1861 agtcctgatg tatagcaagt tcagcagcaa atctgacatt tgggcttttg gggttttgat
     1921 gtgggaaatt tactccctgg ggaagatgcc atatgagaga tttactaaca gtgagactgc
     1981 tgaacacatt gcccaaggcc tacgtctcta caggcctcat ctggcttcag agaaggtata
     2041 taccatcatg tacagttgct ggcatgagaa agcagatgag cgtcccactt tcaaaattct
     2101 tctgagcaat attctagatg tcatggatga agaatcctga gctcgccaat aagcttcttg
     2161 gttctacttc tcttctccac aagccccaat ttcactttct cagaggaaat cccaagctta
     2221 ggagccctgg agcctttgtg ctcccactca atacaaaaag gcccctctct acatctggga
     2281 atgcacctct tctttgattc cctgggatag tggcttctga gcaaaggcca agaaattatt
     2341 gtgcctgaaa tttcccgaga gaattaagac agactgaatt tgcgatgaaa atatttttta
     2401 ggagggagga tgtaaatagc cgcacaaagg ggtccaacag ctctttgagt aggcatttgg
     2461 tagagcttgg gggtgtgtgt gtgggggtgg accgaatttg gcaagaatga aatggtgtca
     2521 taaagatggg aggggagggt gttttgataa aataaaatta ctagaaagct tgaaa
//
LOCUS       NM_000062               1830 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens serpin family G member 1 (SERPING1), transcript variant
            1, mRNA.
ACCESSION   NM_000062
VERSION     NM_000062.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1830)
  AUTHORS   Bork K, Wulff K, Witzke G, Staubach P, Hardt J and Meinke P.
  TITLE     Gene Mutations Linked to Hereditary Angioedema in Solitary
            Angioedema Patients With Normal C1 Inhibitor
  JOURNAL   J Allergy Clin Immunol Pract 11 (8), 2441-2449 (2023)
   PUBMED   36787826
  REMARK    GeneRIF: Gene Mutations Linked to Hereditary Angioedema in Solitary
            Angioedema Patients With Normal C1 Inhibitor.
REFERENCE   2  (bases 1 to 1830)
  AUTHORS   Ferrara AL, Bova M, Petraroli A, Marasco D, Payre C, Fortuna S,
            Palestra F, Ciardi R, Marone G, Spadaro G, Lambeau G and Loffredo S.
  TITLE     Interplay between C1-inhibitor and group IIA secreted phospholipase
            A2 impairs their respective function
  JOURNAL   Immunol Res 71 (1), 70-82 (2023)
   PUBMED   36385678
  REMARK    GeneRIF: Interplay between C1-inhibitor and group IIA secreted
            phospholipase A2 impairs their respective function.
REFERENCE   3  (bases 1 to 1830)
  AUTHORS   Chen S, Li LY, Wu ZM, Liu Y, Li FF, Huang K, Wang YX, Chen QJ, Wang
            XQ, Shen WF, Zhang RY, Shen Y, Lu L, Ding FH and Dai Y.
  TITLE     SerpinG1: A Novel Biomarker Associated With Poor Coronary Collateral
            in Patients With Stable Coronary Disease and Chronic Total Occlusion
  JOURNAL   J Am Heart Assoc 11 (24), e027614 (2022)
   PUBMED   36515245
  REMARK    GeneRIF: SerpinG1: A Novel Biomarker Associated With Poor Coronary
            Collateral in Patients With Stable Coronary Disease and Chronic
            Total Occlusion.
REFERENCE   4  (bases 1 to 1830)
  AUTHORS   Tarandovskiy ID, Buehler PW and Karnaukhova E.
  TITLE     C1-inhibitor influence on platelet activation by thrombin receptors
            agonists
  JOURNAL   Clin Appl Thromb Hemost 28, 10760296221120422 (2022)
   PUBMED   35996317
  REMARK    GeneRIF: C1-inhibitor influence on platelet activation by thrombin
            receptors agonists.
REFERENCE   5  (bases 1 to 1830)
  AUTHORS   Al-Kuraishy HM, Al-Gareeb AI, Jalal NA, Kabrah SM, Alexiou A and
            Batiha GE.
  TITLE     SARS-CoV-2 Infection and C1-Esterase Inhibitor: Camouflage Pattern
            and New Perspective
  JOURNAL   Curr Protein Pept Sci 23 (7), 465-474 (2022)
   PUBMED   35959625
  REMARK    GeneRIF: SARS-CoV-2 Infection and C1-Esterase Inhibitor: Camouflage
            Pattern and New Perspective.
REFERENCE   6  (bases 1 to 1830)
  AUTHORS   Davis AE 3rd, Aulak K, Parad RB, Stecklein HP, Eldering E, Hack CE,
            Kramer J, Strunk RC, Bissler J and Rosen FS.
  TITLE     C1 inhibitor hinge region mutations produce dysfunction by different
            mechanisms
  JOURNAL   Nat Genet 1 (5), 354-358 (1992)
   PUBMED   1363816
REFERENCE   7  (bases 1 to 1830)
  AUTHORS   Frangi D, Aulak KS, Cicardi M, Harrison RA and Davis AE 3rd.
  TITLE     A dysfunctional C1 inhibitor protein with a new reactive center
            mutation (Arg-444-->Leu)
  JOURNAL   FEBS Lett 301 (1), 34-36 (1992)
   PUBMED   1451784
REFERENCE   8  (bases 1 to 1830)
  AUTHORS   Lappin DF, Guc D, Hill A, McShane T and Whaley K.
  TITLE     Effect of interferon-gamma on complement gene expression in
            different cell types
  JOURNAL   Biochem J 281 (Pt 2) (Pt 2), 437-442 (1992)
   PUBMED   1531292
REFERENCE   9  (bases 1 to 1830)
  AUTHORS   Siddique Z, McPhaden AR, McCluskey D and Whaley K.
  TITLE     A single base deletion from the C1-inhibitor gene causes type I
            hereditary angio-oedema
  JOURNAL   Hum Hered 42 (4), 231-234 (1992)
   PUBMED   1339401
REFERENCE   10  (bases 1 to 1830)
  AUTHORS   Siddique Z, McPhaden AR, Lappin DF and Whaley K.
  TITLE     An RNA splice site mutation in the C1-inhibitor gene causes type I
            hereditary angio-oedema
  JOURNAL   Hum Genet 88 (2), 231-232 (1991)
   PUBMED   1684567
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK312626.1, SRR14038192.2770211.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000278407.9/ ENSP00000278407.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL703442.1, AP002893.3,
            AP000662.4 and BQ183346.1.
            On Aug 31, 2019 this sequence version replaced NM_000062.2.
            Summary: This gene encodes a highly glycosylated plasma protein
            involved in the regulation of the complement cascade. Its encoded
            protein, C1 inhibitor, inhibits activated C1r and C1s of the first
            complement component and thus regulates complement activation. It
            is synthesized in the liver, and its deficiency is associated with
            hereditary angioneurotic oedema (HANE). Alternative splicing
            results in multiple transcript variants encoding the same isoform.
            [provided by RefSeq, May 2020].
            Transcript Variant: This variant (1) represents the longer
            transcript.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1830
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..1830
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="serpin family G member 1"
                     /db_xref="GeneID:710"
                     /db_xref="HGNC:HGNC:1228"
                     /db_xref="MIM:606860"
     CDS             61..1563
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="plasma protease C1 inhibitor; complement component 1
                     inhibitor; serpin peptidase inhibitor clade G member 1;
                     C1-inhibitor; epididymis secretory sperm binding protein;
                     serine/cysteine proteinase inhibitor clade G member 1;
                     serpin G1; C1-inhibiting factor; C1 esterase inhibitor;
                     serpin peptidase inhibitor, clade G (C1 inhibitor), member
                     1"
                     /codon_start=1
                     /product="plasma protease C1 inhibitor precursor"
                     /protein_id="NP_000053.2"
                     /db_xref="CCDS:CCDS7962.1"
                     /db_xref="GeneID:710"
                     /db_xref="HGNC:HGNC:1228"
                     /db_xref="MIM:606860"
                     /translation="MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKV
                     ATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQ
                     PTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAMKKV
                     ETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVS
                     QIFHSPDLAIRDTFVNASRTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSL
                     PSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTL
                     KAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLP
                     RIKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAA
                     ASAISVARTLLVFEVQQPFLFVLWDQQHKFPVFMGRVYDPRA"
     sig_peptide     61..126
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    118..189
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05155.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     127..1560
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /product="plasma protease C1 inhibitor"
     misc_feature    133..135
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16040958, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:22171320, ECO:0000269|PubMed:3756141;
                     propagated from UniProtKB/Swiss-Prot (P05155.2);
                     glycosylation site"
     misc_feature    199..201
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:22171320,
                     ECO:0000269|PubMed:23234360; propagated from
                     UniProtKB/Swiss-Prot (P05155.2); glycosylation site"
     misc_feature    202..204
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:22171320,
                     ECO:0000269|PubMed:23234360, ECO:0000269|PubMed:3756141;
                     propagated from UniProtKB/Swiss-Prot (P05155.2);
                     glycosylation site"
     misc_feature    250..252
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:3756141; propagated from
                     UniProtKB/Swiss-Prot (P05155.2); glycosylation site"
     misc_feature    253..414
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05155.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    265..267
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:3756141;
                     propagated from UniProtKB/Swiss-Prot (P05155.2);
                     glycosylation site"
     misc_feature    271..273
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3756141; propagated from
                     UniProtKB/Swiss-Prot (P05155.2); glycosylation site"
     misc_feature    301..303
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:3756141; propagated from
                     UniProtKB/Swiss-Prot (P05155.2); glycosylation site"
     misc_feature    307..309
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3756141; propagated from
                     UniProtKB/Swiss-Prot (P05155.2); glycosylation site"
     misc_feature    313..417
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05155.2);
                     Region: 7 X 4 AA tandem repeats of [QE]-P-T-[TQ]"
     misc_feature    322..324
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3756141; propagated from
                     UniProtKB/Swiss-Prot (P05155.2); glycosylation site"
     misc_feature    334..336
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3756141; propagated from
                     UniProtKB/Swiss-Prot (P05155.2); glycosylation site"
     misc_feature    346..348
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3756141; propagated from
                     UniProtKB/Swiss-Prot (P05155.2); glycosylation site"
     misc_feature    772..774
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:17488724,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:3756141; propagated from
                     UniProtKB/Swiss-Prot (P05155.2); glycosylation site"
     misc_feature    817..819
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:14760718, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:3756141; propagated from
                     UniProtKB/Swiss-Prot (P05155.2); glycosylation site"
     misc_feature    874..876
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="N-linked (GlcNAc...) asparagine, in variant TA;
                     propagated from UniProtKB/Swiss-Prot (P05155.2);
                     glycosylation site"
     misc_feature    1114..1116
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19838169,
                     ECO:0000269|PubMed:3756141; propagated from
                     UniProtKB/Swiss-Prot (P05155.2); glycosylation site"
     misc_feature    1453..1458
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="Reactive bond for chymotrypsin; propagated from
                     UniProtKB/Swiss-Prot (P05155.2); other site"
     misc_feature    1456..1461
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="Reactive bond; propagated from UniProtKB/Swiss-Prot
                     (P05155.2); other site"
     regulatory      1809..1814
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="hexamer: AATAAA"
     polyA_site      1830
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="major polyA site"
ORIGIN
        1 agtctgcact ggagctgcct ggtgaccaga agtttggagt ccgctgacgt cgccgcccag
       61 atggcctcca ggctgaccct gctgaccctc ctgctgctgc tgctggctgg ggatagagcc
      121 tcctcaaatc caaatgctac cagctccagc tcccaggatc cagagagttt gcaagacaga
      181 ggcgaaggga aggtcgcaac aacagttatc tccaagatgc tattcgttga acccatcctg
      241 gaggtttcca gcttgccgac aaccaactca acaaccaatt cagccaccaa aataacagct
      301 aataccactg atgaacccac cacacaaccc accacagagc ccaccaccca acccaccatc
      361 caacccaccc aaccaactac ccagctccca acagattctc ctacccagcc cactactggg
      421 tccttctgcc caggacctgt tactctctgc tctgacttgg agagtcattc aacagaggcc
      481 gtgttggggg atgctttggt agatttctcc ctgaagctct accacgcctt ctcagcaatg
      541 aagaaggtgg agaccaacat ggccttttcc ccattcagca tcgccagcct ccttacccag
      601 gtcctgctcg gggctgggga gaacaccaaa acaaacctgg agagcatcct ctcttacccc
      661 aaggacttca cctgtgtcca ccaggccctg aagggcttca cgaccaaagg tgtcacctca
      721 gtctctcaga tcttccacag cccagacctg gccataaggg acacctttgt gaatgcctct
      781 cggaccctgt acagcagcag ccccagagtc ctaagcaaca acagtgacgc caacttggag
      841 ctcatcaaca cctgggtggc caagaacacc aacaacaaga tcagccggct gctagacagt
      901 ctgccctccg atacccgcct tgtcctcctc aatgctatct acctgagtgc caagtggaag
      961 acaacatttg atcccaagaa aaccagaatg gaaccctttc acttcaaaaa ctcagttata
     1021 aaagtgccca tgatgaatag caagaagtac cctgtggccc atttcattga ccaaactttg
     1081 aaagccaagg tggggcagct gcagctctcc cacaatctga gtttggtgat cctggtaccc
     1141 cagaacctga aacatcgtct tgaagacatg gaacaggctc tcagcccttc tgttttcaag
     1201 gccatcatgg agaaactgga gatgtccaag ttccagccca ctctcctaac actaccccgc
     1261 atcaaagtga cgaccagcca ggatatgctc tcaatcatgg agaaattgga attcttcgat
     1321 ttttcttatg accttaacct gtgtgggctg acagaggacc cagatcttca ggtttctgcg
     1381 atgcagcacc agacagtgct ggaactgaca gagactgggg tggaggcggc tgcagcctcc
     1441 gccatctctg tggcccgcac cctgctggtc tttgaagtgc agcagccctt cctcttcgtg
     1501 ctctgggacc agcagcacaa gttccctgtc ttcatggggc gagtatatga ccccagggcc
     1561 tgagacctgc aggatcaggt tagggcgagc gctacctctc cagcctcagc tctcagttgc
     1621 agccctgctg ctgcctgcct ggacttggcc cctgccacct cctgcctcag gtgtccgcta
     1681 tccaccaaaa gggctccctg agggtctggg caagggacct gcttctatta gcccttctcc
     1741 atggccctgc catgctctcc aaaccacttt ttgcagcttt ctctagttca agttcaccag
     1801 actctataaa taaaacctga cagaccatga
//
LOCUS       NM_000063               2610 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens complement C2 (C2), transcript variant 1, mRNA.
ACCESSION   NM_000063
VERSION     NM_000063.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2610)
  AUTHORS   Steffen BT, Tang W, Lutsey PL, Demmer RT, Selvin E, Matsushita K,
            Morrison AC, Guan W, Rooney MR, Norby FL, Pankratz N, Couper D and
            Pankow JS.
  TITLE     Proteomic analysis of diabetes genetic risk scores identifies
            complement C2 and neuropilin-2 as predictors of type 2 diabetes: the
            Atherosclerosis Risk in Communities (ARIC) Study
  JOURNAL   Diabetologia 66 (1), 105-115 (2023)
   PUBMED   36194249
  REMARK    GeneRIF: Proteomic analysis of diabetes genetic risk scores
            identifies complement C2 and neuropilin-2 as predictors of type 2
            diabetes: the Atherosclerosis Risk in Communities (ARIC) Study.
REFERENCE   2  (bases 1 to 2610)
  AUTHORS   Urban A, Kowalska D, Stasilojc G, Kuzniewska A, Skrobinska A, Arjona
            E, Alonso EC, Fenollosa Segarra MA, Jongerius I, Spaapen R, Satchell
            S, Thiel M, Oldziej S, Rodriguez de Cordoba S and Okroj M.
  TITLE     Gain-of-Function Mutations R249C and S250C in Complement C2 Protein
            Increase C3 Deposition in the Presence of C-Reactive Protein
  JOURNAL   Front Immunol 12, 724361 (2021)
   PUBMED   34899688
  REMARK    GeneRIF: Gain-of-Function Mutations R249C and S250C in Complement C2
            Protein Increase C3 Deposition in the Presence of C-Reactive
            Protein. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2610)
  AUTHORS   Giang NT, van Tong H, Quyet D, Hoan NX, Nghia TH, Nam NM, Hung HV,
            Anh DT, Van Mao C, Son HA, Meyer CG, Velavan TP and Toan NL.
  TITLE     Complement protein levels and MBL2 polymorphisms are associated with
            dengue and disease severity
  JOURNAL   Sci Rep 10 (1), 14923 (2020)
   PUBMED   32913345
  REMARK    GeneRIF: Complement protein levels and MBL2 polymorphisms are
            associated with dengue and disease severity. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 2610)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2610)
  AUTHORS   Ishii Y, Zhu ZB, Macon KJ and Volanakis JE.
  TITLE     Structure of the human C2 gene
  JOURNAL   J Immunol 151 (1), 170-174 (1993)
   PUBMED   8326124
REFERENCE   6  (bases 1 to 2610)
  AUTHORS   Horiuchi T, Macon KJ, Kidd VJ and Volanakis JE.
  TITLE     cDNA cloning and expression of human complement component C2
  JOURNAL   J Immunol 142 (6), 2105-2111 (1989)
   PUBMED   2493504
REFERENCE   7  (bases 1 to 2610)
  AUTHORS   Bentley,D.R.
  TITLE     Primary structure of human complement component C2. Homology to two
            unrelated protein families
  JOURNAL   Biochem J 239 (2), 339-345 (1986)
   PUBMED   2949737
REFERENCE   8  (bases 1 to 2610)
  AUTHORS   Fearon,D.T.
  TITLE     Activation of the alternative complement pathway
  JOURNAL   CRC Crit Rev Immunol 1 (1), 1-32 (1979)
   PUBMED   162484
  REMARK    Review article
REFERENCE   9  (bases 1 to 2610)
  AUTHORS   Alper,C.A.
  TITLE     Inherited structural polymorphism in human C2: evidence for genetic
            linkage between C2 and Bf
  JOURNAL   J Exp Med 144 (4), 1111-1115 (1976)
   PUBMED   978135
REFERENCE   10  (bases 1 to 2610)
  AUTHORS   Lutsenko,S.M., Kharchenko,V.G., Bachurin,V.I. and Lomakin,M.M.
  TITLE     [Circulating blood volume and regional hemodynamics in acute
            gastrointestinal hemorrhage]
  JOURNAL   Sov Med (2), 38-41 (1976)
   PUBMED   1084023
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X04481.1, BC043484.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000299367.10/ ENSP00000299367.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312581.1 and AK222537.1.
            On Nov 22, 2018 this sequence version replaced NM_000063.5.
            Summary: Component C2 is a serum glycoprotein that functions as
            part of the classical pathway of the complement system. Activated
            C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then
            combines with complement factor 4b to create the C3 or C5
            convertase. Deficiency of C2 has been reported to associated with
            certain autoimmune diseases and SNPs in this gene have been
            associated with altered susceptibility to age-related macular
            degeneration. This gene localizes within the class III region of
            the MHC on the short arm of chromosome 6. Alternative splicing
            results in multiple transcript variants encoding distinct isoforms.
            Additional transcript variants have been described in publications
            but their full-length sequence has not been determined.[provided by
            RefSeq, Mar 2009].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2610
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..2610
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /note="complement C2"
                     /db_xref="GeneID:717"
                     /db_xref="HGNC:HGNC:1248"
                     /db_xref="MIM:613927"
     CDS             37..2295
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /EC_number="3.4.21.43"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; C3/C5 convertase; complement component C2;
                     complement component 2"
                     /codon_start=1
                     /product="complement C2 isoform 1 preproprotein"
                     /protein_id="NP_000054.2"
                     /db_xref="CCDS:CCDS4728.1"
                     /db_xref="GeneID:717"
                     /db_xref="HGNC:HGNC:1248"
                     /db_xref="MIM:613927"
                     /translation="MGPLMVLFCLLFLYPGLADSAPSCPQNVNISGGTFTLSHGWAPGS
                     LLTYSCPQGLYPSPASRLCKSSGQWQTPGATRSLSKAVCKPVRCPAPVSFENGIYTPRL
                     GSYPVGGNVSFECEDGFILRGSPVRQCRPNGMWDGETAVCDNGAGHCPNPGISLGAVRT
                     GFRFGHGDKVRYRCSSNLVLTGSSERECQGNGVWSGTEPICRQPYSYDFPEDVAPALGT
                     SFSHMLGATNPTQKTKESLGRKIQIQRSGHLNLYLLLDCSQSVSENDFLIFKESASLMV
                     DRIFSFEINVSVAIITFASEPKVLMSVLNDNSRDMTEVISSLENANYKDHENGTGTNTY
                     AALNSVYLMMNNQMRLLGMETMAWQEIRHAIILLTDGKSNMGGSPKTAVDHIREILNIN
                     QKRNDYLDIYAIGVGKLDVDWRELNELGSKKDGERHAFILQDTKALHQVFEHMLDVSKL
                     TDTICGVGNMSANASDQERTPWHVTIKPKSQETCRGALISDQWVLTAAHCFRDGNDHSL
                     WRVNVGDPKSQWGKEFLIEKAVISPGFDVFAKKNQGILEFYGDDIALLKLAQKVKMSTH
                     ARPICLPCTMEANLALRRPQGSTCRDHENELLNKQSVPAHFVALNGSKLNINLKMGVEW
                     TSCAEVVSQEKTMFPNLTDVREVVTDQFLCSGTQEDESPCKGESGGAVFLERRFRFFQV
                     GLVSWGLYNPCLGSADKNSRKRAPRSKVPPPRDFHINLFRMQPWLRQHLGDVLNFLPL"
     sig_peptide     37..96
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     97..2292
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /product="Complement C2. /id=PRO_0000027610"
                     /note="propagated from UniProtKB/Swiss-Prot (P06681.2)"
     mat_peptide     97..765
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /product="Complement C2b fragment. /id=PRO_0000027611"
                     /note="propagated from UniProtKB/Swiss-Prot (P06681.2)"
     misc_feature    121..123
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P06681.2); glycosylation site"
     misc_feature    370..372
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P06681.2); glycosylation site"
     mat_peptide     766..2292
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /product="Complement C2a fragment. /id=PRO_0000027612"
                     /note="propagated from UniProtKB/Swiss-Prot (P06681.2)"
     misc_feature    814..828
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /note="propagated from UniProtKB/Swiss-Prot (P06681.2);
                     Region: MIDAS-like motif"
     misc_feature    904..906
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P06681.2); glycosylation site"
     misc_feature    1033..1035
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:17027507, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (P06681.2);
                     glycosylation site"
     misc_feature    1435..1437
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:17027507; propagated from
                     UniProtKB/Swiss-Prot (P06681.2); glycosylation site"
     misc_feature    1447..1449
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P06681.2); glycosylation site"
     misc_feature    1897..1899
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:17027507; propagated from
                     UniProtKB/Swiss-Prot (P06681.2); glycosylation site"
     misc_feature    1987..1989
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P06681.2); glycosylation site"
     regulatory      2588..2593
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /note="hexamer: AATAAA"
     polyA_site      2610
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /note="major polyA site"
ORIGIN
        1 ggctctctac ctctcgccgc ccctagggag gacaccatgg gcccactgat ggttcttttt
       61 tgcctgctgt tcctgtaccc aggtctggca gactcggctc cctcctgccc tcagaacgtg
      121 aatatctcgg gtggcacctt caccctcagc catggctggg ctcctgggag ccttctcacc
      181 tactcctgcc cccagggcct gtacccatcc ccagcatcac ggctgtgcaa gagcagcgga
      241 cagtggcaga ccccaggagc cacccggtct ctgtctaagg cggtctgcaa acctgtgcgc
      301 tgtccagccc ctgtctcctt tgagaatggc atttataccc cacggctggg gtcctatccc
      361 gtgggtggca atgtgagctt cgagtgtgag gatggcttca tattgcgggg ctcgcctgtg
      421 cgtcagtgtc gccccaacgg catgtgggat ggagaaacag ctgtgtgtga taatggggct
      481 ggccactgcc ccaacccagg catttcactg ggcgcagtgc ggacaggctt ccgctttggt
      541 catggggaca aggtccgcta tcgctgctcc tcgaatcttg tgctcacggg gtcttcggag
      601 cgggagtgcc agggcaacgg ggtctggagt ggaacggagc ccatctgccg ccaaccctac
      661 tcttatgact tccctgagga cgtggcccct gccctgggca cttccttctc ccacatgctt
      721 ggggccacca atcccaccca gaagacaaag gaaagcctgg gccgtaaaat ccaaatccag
      781 cgctctggtc atctgaacct ctacctgctc ctggactgtt cgcagagtgt gtcggaaaat
      841 gactttctca tcttcaagga gagcgcctcc ctcatggtgg acaggatctt cagctttgag
      901 atcaatgtga gcgttgccat tatcaccttt gcctcagagc ccaaagtcct catgtctgtc
      961 ctgaacgaca actcccggga tatgactgag gtgatcagca gcctggaaaa tgccaactat
     1021 aaagatcatg aaaatggaac tgggactaac acctatgcgg ccttaaacag tgtctatctc
     1081 atgatgaaca accaaatgcg actcctcggc atggaaacga tggcctggca ggaaatccga
     1141 catgccatca tccttctgac agatggaaag tccaatatgg gtggctctcc caagacagct
     1201 gttgaccata tcagagagat cctgaacatc aaccagaaga ggaatgacta tctggacatc
     1261 tatgccatcg gggtgggcaa gctggatgtg gactggagag aactgaatga gctagggtcc
     1321 aagaaggatg gtgagaggca tgccttcatt ctgcaggaca caaaggctct gcaccaggtc
     1381 tttgaacata tgctggatgt ctccaagctc acagacacca tctgcggggt ggggaacatg
     1441 tcagcaaacg cctctgacca ggagaggaca ccctggcatg tcactattaa gcccaagagc
     1501 caagagacct gccggggggc cctcatctcc gaccaatggg tcctgacagc agctcattgc
     1561 ttccgcgatg gcaacgacca ctccctgtgg agggtcaatg tgggagaccc caaatcccag
     1621 tggggcaaag aattccttat tgagaaggcg gtgatctccc cagggtttga tgtctttgcc
     1681 aaaaagaacc agggaatcct ggagttctat ggtgatgaca tagctctgct gaagctggcc
     1741 cagaaagtaa agatgtccac ccatgccagg cccatctgcc ttccctgcac gatggaggcc
     1801 aatctggctc tgcggagacc tcaaggcagc acctgtaggg accatgagaa tgaactgctg
     1861 aacaaacaga gtgttcctgc tcattttgtc gccttgaatg ggagcaaact gaacattaac
     1921 cttaagatgg gagtggagtg gacaagctgt gccgaggttg tctcccaaga aaaaaccatg
     1981 ttccccaact tgacagatgt cagggaggtg gtgacagacc agttcctatg cagtgggacc
     2041 caggaggatg agagtccctg caagggagaa tctgggggag cagttttcct tgagcggaga
     2101 ttcaggtttt ttcaggtggg tctggtgagc tggggtcttt acaacccctg ccttggctct
     2161 gctgacaaaa actcccgcaa aagggcccct cgtagcaagg tcccgccgcc acgagacttt
     2221 cacatcaatc tcttccgcat gcagccctgg ctgaggcagc acctggggga tgtcctgaat
     2281 tttttacccc tctagccatg gccactgagc cctctgctgc cctgccagaa tctgccgccc
     2341 ctccatcttc tacctctgaa tggccaccct tagaccctgt gatccatcct ctctcctagc
     2401 tgagtaaatc cgggtctcta ggatgccaga ggcagcgcac acaagctggg aaatcctcag
     2461 ggctcctacc agcaggactg cctcgctgcc ccacctcccg ctccttggcc tgtccccaga
     2521 ttccttccct ggttgacttg actcatgctt gtttcacttt cacatggaat ttcccagtta
     2581 tgaaattaat aaaaatcaat ggtttccaca
//
LOCUS       NM_000064               5231 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens complement C3 (C3), mRNA.
ACCESSION   NM_000064
VERSION     NM_000064.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5231)
  AUTHORS   Lorentzen J, Olesen HG, Hansen AG, Thiel S, Birkelund S, Andersen
            CBF and Andersen GR.
  TITLE     Trypanosoma brucei Invariant Surface gp65 Inhibits the Alternative
            Pathway of Complement by Accelerating C3b Degradation
  JOURNAL   J Immunol 211 (5), 862-873 (2023)
   PUBMED   37466368
  REMARK    GeneRIF: Trypanosoma brucei Invariant Surface gp65 Inhibits the
            Alternative Pathway of Complement by Accelerating C3b Degradation.
REFERENCE   2  (bases 1 to 5231)
  AUTHORS   Wang S, Dong L, Qin A, Tan J, Zhou X and Qin W.
  TITLE     Roles of mesangial C3 and C1q deposition in the clinical
            manifestations and prognosis of IgAN
  JOURNAL   Int Immunopharmacol 120, 110354 (2023)
   PUBMED   37235963
  REMARK    GeneRIF: Roles of mesangial C3 and C1q deposition in the clinical
            manifestations and prognosis of IgAN.
REFERENCE   3  (bases 1 to 5231)
  AUTHORS   Sulzen H, Began J, Dhillon A, Kereiche S, Pompach P, Votrubova J,
            Zahedifard F, Subrtova A, Safner M, Hubalek M, Thompson M, Zoltner M
            and Zoll S.
  TITLE     Cryo-EM structures of Trypanosoma brucei gambiense ISG65 with human
            complement C3 and C3b and their roles in alternative pathway
            restriction
  JOURNAL   Nat Commun 14 (1), 2403 (2023)
   PUBMED   37105991
  REMARK    GeneRIF: Cryo-EM structures of Trypanosoma brucei gambiense ISG65
            with human complement C3 and C3b and their roles in alternative
            pathway restriction. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5231)
  AUTHORS   Zimmer J, Hobkirk J, Mohamed F, Browning MJ and Stover CM.
  TITLE     On the Functional Overlap between Complement and Anti-Microbial
            Peptides
  JOURNAL   Front Immunol 5, 689 (2015)
   PUBMED   25646095
  REMARK    Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5231)
  AUTHORS   Nordahl EA, Rydengard V, Nyberg P, Nitsche DP, Morgelin M, Malmsten
            M, Bjorck L and Schmidtchen A.
  TITLE     Activation of the complement system generates antibacterial peptides
  JOURNAL   Proc Natl Acad Sci U S A 101 (48), 16879-16884 (2004)
   PUBMED   15550543
  REMARK    GeneRIF: A peptide (C3a) derived from the complement C3 protein has
            antimicrobial activity against E. coli, P. aeruginosa, E. faecalis,
            and C. albicans.
REFERENCE   6  (bases 1 to 5231)
  AUTHORS   Martin,B. and Smith,R.J.H.
  TITLE     C3 Glomerulopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301598
REFERENCE   7  (bases 1 to 5231)
  AUTHORS   Noris,M., Bresin,E., Mele,C. and Remuzzi,G.
  TITLE     Genetic Atypical Hemolytic-Uremic Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301541
REFERENCE   8  (bases 1 to 5231)
  AUTHORS   de Bruijn,M.H. and Fey,G.H.
  TITLE     Human complement component C3: cDNA coding sequence and derived
            primary structure
  JOURNAL   Proc Natl Acad Sci U S A 82 (3), 708-712 (1985)
   PUBMED   2579379
REFERENCE   9  (bases 1 to 5231)
  AUTHORS   Fearon,D.T.
  TITLE     Activation of the alternative complement pathway
  JOURNAL   CRC Crit Rev Immunol 1 (1), 1-32 (1979)
   PUBMED   162484
  REMARK    Review article
REFERENCE   10  (bases 1 to 5231)
  AUTHORS   Schreiber,R.D., Pangburn,M.K., Lesavre,P.H. and Muller-Eberhard,H.J.
  TITLE     Initiation of the alternative pathway of complement: recognition of
            activators by bound C3b and assembly of the entire pathway from six
            isolated proteins
  JOURNAL   Proc Natl Acad Sci U S A 75 (8), 3948-3952 (1978)
   PUBMED   279011
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC150299.1, SRR1660807.97673.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN04284274
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000245907.11/ ENSP00000245907.4
            Protein has antimicrobial activity :: PMID: 15550543
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK299114.1, K02765.1,
            BC150179.1, BC150299.1, AC008760.7 and AA025232.1.
            On May 17, 2019 this sequence version replaced NM_000064.3.
            Summary: Complement component C3 plays a central role in the
            activation of complement system. Its activation is required for
            both classical and alternative complement activation pathways. The
            encoded preproprotein is proteolytically processed to generate
            alpha and beta subunits that form the mature protein, which is then
            further processed to generate numerous peptide products. The C3a
            peptide, also known as the C3a anaphylatoxin, modulates
            inflammation and possesses antimicrobial activity. Mutations in
            this gene are associated with atypical hemolytic uremic syndrome
            and age-related macular degeneration in human patients. [provided
            by RefSeq, Nov 2015].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5231
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..5231
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="complement C3"
                     /db_xref="GeneID:718"
                     /db_xref="HGNC:HGNC:1318"
                     /db_xref="MIM:120700"
     CDS             62..5053
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /EC_number="3.4.21.43"
                     /note="acylation-stimulating protein cleavage product;
                     prepro-C3; C3a anaphylatoxin; complement component C3a;
                     complement component C3b; epididymis secretory sperm
                     binding protein Li 62p; C3 and PZP-like
                     alpha-2-macroglobulin domain-containing protein 1;
                     complement component 3"
                     /codon_start=1
                     /product="complement C3 preproprotein"
                     /protein_id="NP_000055.2"
                     /db_xref="CCDS:CCDS32883.1"
                     /db_xref="GeneID:718"
                     /db_xref="HGNC:HGNC:1318"
                     /db_xref="MIM:120700"
                     /translation="MGPTSGPSLLLLLLTHLPLALGSPMYSIITPNILRLESEETMVLE
                     AHDAQGDVPVTVTVHDFPGKKLVLSSEKTVLTPATNHMGNVTFTIPANREFKSEKGRNK
                     FVTVQATFGTQVVEKVVLVSLQSGYLFIQTDKTIYTPGSTVLYRIFTVNHKLLPVGRTV
                     MVNIENPEGIPVKQDSLSSQNQLGVLPLSWDIPELVNMGQWKIRAYYENSPQQVFSTEF
                     EVKEYVLPSFEVIVEPTEKFYYIYNEKGLEVTITARFLYGKKVEGTAFVIFGIQDGEQR
                     ISLPESLKRIPIEDGSGEVVLSRKVLLDGVQNPRAEDLVGKSLYVSATVILHSGSDMVQ
                     AERSGIPIVTSPYQIHFTKTPKYFKPGMPFDLMVFVTNPDGSPAYRVPVAVQGEDTVQS
                     LTQGDGVAKLSINTHPSQKPLSITVRTKKQELSEAEQATRTMQALPYSTVGNSNNYLHL
                     SVLRTELRPGETLNVNFLLRMDRAHEAKIRYYTYLIMNKGRLLKAGRQVREPGQDLVVL
                     PLSITTDFIPSFRLVAYYTLIGASGQREVVADSVWVDVKDSCVGSLVVKSGQSEDRQPV
                     PGQQMTLKIEGDHGARVVLVAVDKGVFVLNKKNKLTQSKIWDVVEKADIGCTPGSGKDY
                     AGVFSDAGLTFTSSSGQQTAQRAELQCPQPAARRRRSVQLTEKRMDKVGKYPKELRKCC
                     EDGMRENPMRFSCQRRTRFISLGEACKKVFLDCCNYITELRRQHARASHLGLARSNLDE
                     DIIAEENIVSRSEFPESWLWNVEDLKEPPKNGISTKLMNIFLKDSITTWEILAVSMSDK
                     KGICVADPFEVTVMQDFFIDLRLPYSVVRNEQVEIRAVLYNYRQNQELKVRVELLHNPA
                     FCSLATTKRRHQQTVTIPPKSSLSVPYVIVPLKTGLQEVEVKAAVYHHFISDGVRKSLK
                     VVPEGIRMNKTVAVRTLDPERLGREGVQKEDIPPADLSDQVPDTESETRILLQGTPVAQ
                     MTEDAVDAERLKHLIVTPSGCGEQNMIGMTPTVIAVHYLDETEQWEKFGLEKRQGALEL
                     IKKGYTQQLAFRQPSSAFAAFVKRAPSTWLTAYVVKVFSLAVNLIAIDSQVLCGAVKWL
                     ILEKQKPDGVFQEDAPVIHQEMIGGLRNNNEKDMALTAFVLISLQEAKDICEEQVNSLP
                     GSITKAGDFLEANYMNLQRSYTVAIAGYALAQMGRLKGPLLNKFLTTAKDKNRWEDPGK
                     QLYNVEATSYALLALLQLKDFDFVPPVVRWLNEQRYYGGGYGSTQATFMVFQALAQYQK
                     DAPDHQELNLDVSLQLPSRSSKITHRIHWESASLLRSEETKENEGFTVTAEGKGQGTLS
                     VVTMYHAKAKDQLTCNKFDLKVTIKPAPETEKRPQDAKNTMILEICTRYRGDQDATMSI
                     LDISMMTGFAPDTDDLKQLANGVDRYISKYELDKAFSDRNTLIIYLDKVSHSEDDCLAF
                     KVHQYFNVELIQPGAVKVYAYYNLEESCTRFYHPEKEDGKLNKLCRDELCRCAEENCFI
                     QKSDDKVTLEERLDKACEPGVDYVYKTRLVKVQLSNDFDEYIMAIEQTIKSGSDEVQVG
                     QQRTFISPIKCREALKLEEKKHYLMWGLSSDFWGEKPNLSYIIGKDTWVEHWPEEDECQ
                     DEENQKQCQDLGAFTESMVVFGCPN"
     sig_peptide     62..127
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     128..5050
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /product="Complement C3. /id=PRO_0000005907"
                     /note="propagated from UniProtKB/Swiss-Prot (P01024.2)"
     mat_peptide     128..2062
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /product="Complement C3 beta chain. /id=PRO_0000005908"
                     /note="propagated from UniProtKB/Swiss-Prot (P01024.2)"
     misc_feature    173..175
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P01024.2); phosphorylation site"
     misc_feature    269..271
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P01024.2); phosphorylation site"
     misc_feature    314..316
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:16263699, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:17051150, ECO:0000269|PubMed:17684013,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:2579379;
                     propagated from UniProtKB/Swiss-Prot (P01024.2);
                     glycosylation site"
     misc_feature    950..952
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P01024.2); phosphorylation site"
     misc_feature    968..970
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P01024.2); phosphorylation site"
     misc_feature    1682..1687
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="Cleavage, by S.pyogenes SpeB.
                     /evidence=ECO:0000269|PubMed:18160402; propagated from
                     UniProtKB/Swiss-Prot (P01024.2); cleavage site"
     mat_peptide     1766..2062
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /product="C3-beta-c. /evidence=ECO:0000250.
                     /id=PRO_0000430430"
                     /note="propagated from UniProtKB/Swiss-Prot (P01024.2)"
     mat_peptide     2075..5050
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /product="Complement C3 alpha chain. /id=PRO_0000005909"
                     /note="propagated from UniProtKB/Swiss-Prot (P01024.2)"
     mat_peptide     2075..2305
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /product="complement C3"
                     /experiment="DESCRIPTION:antimicrobial
                     peptide[PMID:15550543]"
                     /exception="alternative processing"
     mat_peptide     2075..2302
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /product="Acylation stimulating protein.
                     /id=PRO_0000419935"
                     /note="propagated from UniProtKB/Swiss-Prot (P01024.2)"
     misc_feature    2075..2077
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P01024.2); phosphorylation site"
     misc_feature    2300..2305
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="Cleavage, by carboxypeptidases; propagated from
                     UniProtKB/Swiss-Prot (P01024.2); cleavage site"
     misc_feature    2303..2308
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="Cleavage, by C3 convertase; propagated from
                     UniProtKB/Swiss-Prot (P01024.2); cleavage site"
     mat_peptide     2306..5050
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /product="Complement C3b alpha' chain. /id=PRO_0000005911"
                     /note="propagated from UniProtKB/Swiss-Prot (P01024.2)"
     mat_peptide     2306..2923
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /product="Complement C3c alpha' chain fragment 1.
                     /id=PRO_0000005912"
                     /note="propagated from UniProtKB/Swiss-Prot (P01024.2)"
     misc_feature    2876..2878
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:17051150;
                     propagated from UniProtKB/Swiss-Prot (P01024.2);
                     glycosylation site"
     misc_feature    2921..2980
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="propagated from UniProtKB/Swiss-Prot (P01024.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2921..2926
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="Cleavage, by factor I. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P01024.2); cleavage
                     site"
     mat_peptide     2924..3970
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /product="Complement C3dg fragment. /id=PRO_0000005913"
                     /note="propagated from UniProtKB/Swiss-Prot (P01024.2)"
     mat_peptide     2924..3064
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /product="Complement C3g fragment. /id=PRO_0000005914"
                     /note="propagated from UniProtKB/Swiss-Prot (P01024.2)"
     misc_feature    2963..2965
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P01024.2); phosphorylation site"
     mat_peptide     3065..3970
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /product="Complement C3d fragment. /id=PRO_0000005915"
                     /note="propagated from UniProtKB/Swiss-Prot (P01024.2)"
     misc_feature    3968..3973
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="Cleavage, by factor I; propagated from
                     UniProtKB/Swiss-Prot (P01024.2); cleavage site"
     mat_peptide     3971..4021
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /product="Complement C3f fragment.
                     /evidence=ECO:0000269|PubMed:8376604. /id=PRO_0000005916"
                     /note="propagated from UniProtKB/Swiss-Prot (P01024.2)"
     misc_feature    4019..4024
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="Cleavage, by factor I; propagated from
                     UniProtKB/Swiss-Prot (P01024.2); cleavage site"
     mat_peptide     4022..5050
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /product="Complement C3c alpha' chain fragment 2.
                     /id=PRO_0000273948"
                     /note="propagated from UniProtKB/Swiss-Prot (P01024.2)"
     misc_feature    4022..4024
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P01024.2); phosphorylation site"
     misc_feature    4778..4780
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P01024.2); phosphorylation site"
     misc_feature    4910..4912
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P01024.2); glycosylation site"
     misc_feature    4961..5038
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="propagated from UniProtKB/Swiss-Prot (P01024.2);
                     Region: Interaction with CFP/properdin.
                     /evidence=ECO:0000269|PubMed:28264884,
                     ECO:0000269|PubMed:31507604"
     misc_feature    5048..5050
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="Coordinates Mg2+ for interaction with Complement
                     factor B Bb fragment.
                     /evidence=ECO:0000269|PubMed:28264884,
                     ECO:0000269|PubMed:31507604; propagated from
                     UniProtKB/Swiss-Prot (P01024.2); other site"
     regulatory      5078..5083
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="hexamer: GATAAA"
     polyA_site      5100
                     /gene="C3"
                     /gene_synonym="AHUS5; ARMD9; ASP; C3a; C3b; CPAMD1;
                     HEL-S-62p"
                     /note="major polyA site"
ORIGIN
        1 actcctcccc atcctctccc tctgtccctc tgtccctctg accctgcact gtcccagcac
       61 catgggaccc acctcaggtc ccagcctgct gctcctgcta ctaacccacc tccccctggc
      121 tctggggagt cccatgtact ctatcatcac ccccaacatc ttgcggctgg agagcgagga
      181 gaccatggtg ctggaggccc acgacgcgca aggggatgtt ccagtcactg ttactgtcca
      241 cgacttccca ggcaaaaaac tagtgctgtc cagtgagaag actgtgctga cccctgccac
      301 caaccacatg ggcaacgtca ccttcacgat cccagccaac agggagttca agtcagaaaa
      361 ggggcgcaac aagttcgtga ccgtgcaggc caccttcggg acccaagtgg tggagaaggt
      421 ggtgctggtc agcctgcaga gcgggtacct cttcatccag acagacaaga ccatctacac
      481 ccctggctcc acagttctct atcggatctt caccgtcaac cacaagctgc tacccgtggg
      541 ccggacggtc atggtcaaca ttgagaaccc ggaaggcatc ccggtcaagc aggactcctt
      601 gtcttctcag aaccagcttg gcgtcttgcc cttgtcttgg gacattccgg aactcgtcaa
      661 catgggccag tggaagatcc gagcctacta tgaaaactca ccacagcagg tcttctccac
      721 tgagtttgag gtgaaggagt acgtgctgcc cagtttcgag gtcatagtgg agcctacaga
      781 gaaattctac tacatctata acgagaaggg cctggaggtc accatcaccg ccaggttcct
      841 ctacgggaag aaagtggagg gaactgcctt tgtcatcttc gggatccagg atggcgaaca
      901 gaggatttcc ctgcctgaat ccctcaagcg cattccgatt gaggatggct cgggggaggt
      961 tgtgctgagc cggaaggtac tgctggacgg ggtgcagaac ccccgagcag aagacctggt
     1021 ggggaagtct ttgtacgtgt ctgccaccgt catcttgcac tcaggcagtg acatggtgca
     1081 ggcagagcgc agcgggatcc ccatcgtgac ctctccctac cagatccact tcaccaagac
     1141 acccaagtac ttcaaaccag gaatgccctt tgacctcatg gtgttcgtga cgaaccctga
     1201 tggctctcca gcctaccgag tccccgtggc agtccagggc gaggacactg tgcagtctct
     1261 aacccaggga gatggcgtgg ccaaactcag catcaacaca caccccagcc agaagccctt
     1321 gagcatcacg gtgcgcacga agaagcagga gctctcggag gcagagcagg ctaccaggac
     1381 catgcaggct ctgccctaca gcaccgtggg caactccaac aattacctgc atctctcagt
     1441 gctacgtaca gagctcagac ccggggagac cctcaacgtc aacttcctcc tgcgaatgga
     1501 ccgcgcccac gaggccaaga tccgctacta cacctacctg atcatgaaca agggcaggct
     1561 gttgaaggcg ggacgccagg tgcgagagcc cggccaggac ctggtggtgc tgcccctgtc
     1621 catcaccacc gacttcatcc cttccttccg cctggtggcg tactacacgc tgatcggtgc
     1681 cagcggccag agggaggtgg tggccgactc cgtgtgggtg gacgtcaagg actcctgcgt
     1741 gggctcgctg gtggtaaaaa gcggccagtc agaagaccgg cagcctgtac ctgggcagca
     1801 gatgaccctg aagatagagg gtgaccacgg ggcccgggtg gtactggtgg ccgtggacaa
     1861 gggcgtgttc gtgctgaata agaagaacaa actgacgcag agtaagatct gggacgtggt
     1921 ggagaaggca gacatcggct gcaccccggg cagtgggaag gattacgccg gtgtcttctc
     1981 cgacgcaggg ctgaccttca cgagcagcag tggccagcag accgcccaga gggcagaact
     2041 tcagtgcccg cagccagccg cccgccgacg ccgttccgtg cagctcacgg agaagcgaat
     2101 ggacaaagtc ggcaagtacc ccaaggagct gcgcaagtgc tgcgaggacg gcatgcggga
     2161 gaaccccatg aggttctcgt gccagcgccg gacccgtttc atctccctgg gcgaggcgtg
     2221 caagaaggtc ttcctggact gctgcaacta catcacagag ctgcggcggc agcacgcgcg
     2281 ggccagccac ctgggcctgg ccaggagtaa cctggatgag gacatcattg cagaagagaa
     2341 catcgtttcc cgaagtgagt tcccagagag ctggctgtgg aacgttgagg acttgaaaga
     2401 gccaccgaaa aatggaatct ctacgaagct catgaatata tttttgaaag actccatcac
     2461 cacgtgggag attctggctg tgagcatgtc ggacaagaaa gggatctgtg tggcagaccc
     2521 cttcgaggtc acagtaatgc aggacttctt catcgacctg cggctaccct actctgttgt
     2581 tcgaaacgag caggtggaaa tccgagccgt tctctacaat taccggcaga accaagagct
     2641 caaggtgagg gtggaactac tccacaatcc agccttctgc agcctggcca ccaccaagag
     2701 gcgtcaccag cagaccgtaa ccatcccccc caagtcctcg ttgtccgttc catatgtcat
     2761 cgtgccgcta aagaccggcc tgcaggaagt ggaagtcaag gctgctgtct accatcattt
     2821 catcagtgac ggtgtcagga agtccctgaa ggtcgtgccg gaaggaatca gaatgaacaa
     2881 aactgtggct gttcgcaccc tggatccaga acgcctgggc cgtgaaggag tgcagaaaga
     2941 ggacatccca cctgcagacc tcagtgacca agtcccggac accgagtctg agaccagaat
     3001 tctcctgcaa gggaccccag tggcccagat gacagaggat gccgtcgacg cggaacggct
     3061 gaagcacctc attgtgaccc cctcgggctg cggggaacag aacatgatcg gcatgacgcc
     3121 cacggtcatc gctgtgcatt acctggatga aacggagcag tgggagaagt tcggcctaga
     3181 gaagcggcag ggggccttgg agctcatcaa gaaggggtac acccagcagc tggccttcag
     3241 acaacccagc tctgcctttg cggccttcgt gaaacgggca cccagcacct ggctgaccgc
     3301 ctacgtggtc aaggtcttct ctctggctgt caacctcatc gccatcgact cccaagtcct
     3361 ctgcggggct gttaaatggc tgatcctgga gaagcagaag cccgacgggg tcttccagga
     3421 ggatgcgccc gtgatacacc aagaaatgat tggtggatta cggaacaaca acgagaaaga
     3481 catggccctc acggcctttg ttctcatctc gctgcaggag gctaaagata tttgcgagga
     3541 gcaggtcaac agcctgccag gcagcatcac taaagcagga gacttccttg aagccaacta
     3601 catgaaccta cagagatcct acactgtggc cattgctggc tatgctctgg cccagatggg
     3661 caggctgaag gggcctcttc ttaacaaatt tctgaccaca gccaaagata agaaccgctg
     3721 ggaggaccct ggtaagcagc tctacaacgt ggaggccaca tcctatgccc tcttggccct
     3781 actgcagcta aaagactttg actttgtgcc tcccgtcgtg cgttggctca atgaacagag
     3841 atactacggt ggtggctatg gctctaccca ggccaccttc atggtgttcc aagccttggc
     3901 tcaataccaa aaggacgccc ctgaccacca ggaactgaac cttgatgtgt ccctccaact
     3961 gcccagccgc agctccaaga tcacccaccg tatccactgg gaatctgcca gcctcctgcg
     4021 atcagaagag accaaggaaa atgagggttt cacagtcaca gctgaaggaa aaggccaagg
     4081 caccttgtcg gtggtgacaa tgtaccatgc taaggccaaa gatcaactca cctgtaataa
     4141 attcgacctc aaggtcacca taaaaccagc accggaaaca gaaaagaggc ctcaggatgc
     4201 caagaacact atgatccttg agatctgtac caggtaccgg ggagaccagg atgccactat
     4261 gtctatattg gacatatcca tgatgactgg ctttgctcca gacacagatg acctgaagca
     4321 gctggccaat ggtgttgaca gatacatctc caagtatgag ctggacaaag ccttctccga
     4381 taggaacacc ctcatcatct acctggacaa ggtctcacac tctgaggatg actgtctagc
     4441 tttcaaagtt caccaatact ttaatgtaga gcttatccag cctggagcag tcaaggtcta
     4501 cgcctattac aacctggagg aaagctgtac ccggttctac catccggaaa aggaggatgg
     4561 aaagctgaac aagctctgcc gtgatgaact gtgccgctgt gctgaggaga attgcttcat
     4621 acaaaagtcg gatgacaagg tcaccctgga agaacggctg gacaaggcct gtgagccagg
     4681 agtggactat gtgtacaaga cccgactggt caaggttcag ctgtccaatg actttgacga
     4741 gtacatcatg gccattgagc agaccatcaa gtcaggctcg gatgaggtgc aggttggaca
     4801 gcagcgcacg ttcatcagcc ccatcaagtg cagagaagcc ctgaagctgg aggagaagaa
     4861 acactacctc atgtggggtc tctcctccga tttctgggga gagaagccca acctcagcta
     4921 catcatcggg aaggacactt gggtggagca ctggcccgag gaggacgaat gccaagacga
     4981 agagaaccag aaacaatgcc aggacctcgg cgccttcacc gagagcatgg ttgtctttgg
     5041 gtgccccaac tgaccacacc cccattcccc cactccagat aaagcttcag ttatatctca
     5101 cgtgtctgga gttctttgcc aagagggaga ggctgaaatc cccagccgcc tcacctgcag
     5161 ctcagctcca tcctacttga aacctcacct gttcccaccg cattttctcc tggcgttcgc
     5221 ctgctagtgt g
//
LOCUS       NM_000065               3691 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens complement C6 (C6), transcript variant 1, mRNA.
ACCESSION   NM_000065
VERSION     NM_000065.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3691)
  AUTHORS   Lukassen MV, Franc V, Hevler JF and Heck AJR.
  TITLE     Similarities and differences in the structures and proteoform
            profiles of the complement proteins C6 and C7
  JOURNAL   Proteomics 21 (21-22), e2000310 (2021)
   PUBMED   34241972
  REMARK    GeneRIF: Similarities and differences in the structures and
            proteoform profiles of the complement proteins C6 and C7.
REFERENCE   2  (bases 1 to 3691)
  AUTHORS   Menny A, Serna M, Boyd CM, Gardner S, Joseph AP, Morgan BP, Topf M,
            Brooks NJ and Bubeck D.
  TITLE     CryoEM reveals how the complement membrane attack complex ruptures
            lipid bilayers
  JOURNAL   Nat Commun 9 (1), 5316 (2018)
   PUBMED   30552328
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3691)
  AUTHORS   Han YY, Zhao LJ, Lin Y, He H, Tian Q, Zhu W, Shen H, Chen XD and
            Deng HW.
  TITLE     Multiple analyses indicate the specific association of NR1I3, C6 and
            TNN with low hip BMD risk
  JOURNAL   J Genet Genomics 44 (6), 327-330 (2017)
   PUBMED   28629900
  REMARK    GeneRIF: specific association of NR1I3, C6 and TNN with low hip BMD
            risk
REFERENCE   4  (bases 1 to 3691)
  AUTHORS   Wu W, Yang H, Feng Y, Zhang P, Li S, Wang X, Peng T, Wang F, Xie B,
            Guo P, Li M, Wang Y, Zhao N, Wang D, Wang S and Zhang Y.
  TITLE     Polymorphisms in complement genes and risk of preeclampsia in
            Taiyuan, China
  JOURNAL   Inflamm Res 65 (10), 837-845 (2016)
   PUBMED   27405496
  REMARK    GeneRIF: Our study provided novel evidence that genetic variations
            in complement genes C6 and MASP1were associated with preeclampsia
            risk, and that the risk varied by preeclampsia subtypes
REFERENCE   5  (bases 1 to 3691)
  AUTHORS   Wang Z, Liao J, Wu S, Li C, Fan J and Peng Z.
  TITLE     Recipient C6 rs9200 genotype is associated with hepatocellular
            carcinoma recurrence after orthotopic liver transplantation in a Han
            Chinese population
  JOURNAL   Cancer Gene Ther 23 (6), 157-161 (2016)
   PUBMED   27173880
  REMARK    GeneRIF: recipient C6 rs9200 polymorphism is associated with HCC
            recurrence after OLT, and improves the predictive value of clinical
            models.
REFERENCE   6  (bases 1 to 3691)
  AUTHORS   DiScipio RG.
  TITLE     Formation and structure of the C5b-7 complex of the lytic pathway of
            complement
  JOURNAL   J Biol Chem 267 (24), 17087-17094 (1992)
   PUBMED   1387399
REFERENCE   7  (bases 1 to 3691)
  AUTHORS   Coto E, Martinez-Naves E, Dominguez O, DiScipio RG, Urra JM and
            Lopez-Larrea C.
  TITLE     DNA polymorphisms and linkage relationship of the human complement
            component C6, C7, and C9 genes
  JOURNAL   Immunogenetics 33 (3), 184-187 (1991)
   PUBMED   1672663
REFERENCE   8  (bases 1 to 3691)
  AUTHORS   Haefliger JA, Tschopp J, Vial N and Jenne DE.
  TITLE     Complete primary structure and functional characterization of the
            sixth component of the human complement system. Identification of
            the C5b-binding domain in complement C6
  JOURNAL   J Biol Chem 264 (30), 18041-18051 (1989)
   PUBMED   2808363
REFERENCE   9  (bases 1 to 3691)
  AUTHORS   DiScipio RG and Hugli TE.
  TITLE     The molecular architecture of human complement component C6
  JOURNAL   J Biol Chem 264 (27), 16197-16206 (1989)
   PUBMED   2789218
REFERENCE   10  (bases 1 to 3691)
  AUTHORS   Chakravarti DN, Chakravarti B, Parra CA and Muller-Eberhard HJ.
  TITLE     Structural homology of complement protein C6 with other
            channel-forming proteins of complement
  JOURNAL   Proc Natl Acad Sci U S A 86 (8), 2799-2803 (1989)
   PUBMED   2468158
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: J05024.1, J05064.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000337836.10/ ENSP00000338861.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA642358.1, J05064.1 and
            AC008863.8.
            On Feb 11, 2020 this sequence version replaced NM_000065.4.
            Summary: This gene encodes a component of the complement cascade.
            The encoded protein is part of the membrane attack complex that can
            be incorporated into the cell membrane and cause cell lysis.
            Mutations in this gene are associated with complement component-6
            deficiency. Transcript variants encoding the same protein have been
            described.[provided by RefSeq, Nov 2012].
            Transcript Variant: This variant (1) represents the predominant
            transcript. Variants 1 and 2 both encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3691
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.1"
     gene            1..3691
                     /gene="C6"
                     /note="complement C6"
                     /db_xref="GeneID:729"
                     /db_xref="HGNC:HGNC:1339"
                     /db_xref="MIM:217050"
     misc_feature    34..36
                     /gene="C6"
                     /note="upstream in-frame stop codon"
     CDS             178..2982
                     /gene="C6"
                     /note="complement component C6; complement component 6"
                     /codon_start=1
                     /product="complement component C6 precursor"
                     /protein_id="NP_000056.2"
                     /db_xref="CCDS:CCDS3936.1"
                     /db_xref="GeneID:729"
                     /db_xref="HGNC:HGNC:1339"
                     /db_xref="MIM:217050"
                     /translation="MARRSVLYFILLNALINKGQACFCDHYAWTQWTSCSKTCNSGTQS
                     RHRQIVVDKYYQENFCEQICSKQETRECNWQRCPINCLLGDFGPWSDCDPCIEKQSKVR
                     SVLRPSQFGGQPCTAPLVAFQPCIPSKLCKIEEADCKNKFRCDSGRCIARKLECNGEND
                     CGDNSDERDCGRTKAVCTRKYNPIPSVQLMGNGFHFLAGEPRGEVLDNSFTGGICKTVK
                     SSRTSNPYRVPANLENVGFEVQTAEDDLKTDFYKDLTSLGHNENQQGSFSSQGGSSFSV
                     PIFYSSKRSENINHNSAFKQAIQASHKKDSSFIRIHKVMKVLNFTTKAKDLHLSDVFLK
                     ALNHLPLEYNSALYSRIFDDFGTHYFTSGSLGGVYDLLYQFSSEELKNSGLTEEEAKHC
                     VRIETKKRVLFAKKTKVEHRCTTNKLSEKHEGSFIQGAEKSISLIRGGRSEYGAALAWE
                     KGSSGLEEKTFSEWLESVKENPAVIDFELAPIVDLVRNIPCAVTKRNNLRKALQEYAAK
                     FDPCQCAPCPNNGRPTLSGTECLCVCQSGTYGENCEKQSPDYKSNAVDGQWGCWSSWST
                     CDATYKRSRTRECNNPAPQRGGKRCEGEKRQEEDCTFSIMENNGQPCINDDEEMKEVDL
                     PEIEADSGCPQPVPPENGFIRNEKQLYLVGEDVEISCLTGFETVGYQYFRCLPDGTWRQ
                     GDVECQRTECIKPVVQEVLTITPFQRLYRIGESIELTCPKGFVVAGPSRYTCQGNSWTP
                     PISNSLTCEKDTLTKLKGHCQLGQKQSGSECICMSPEEDCSHHSEDLCVFDTDSNDYFT
                     SPACKFLAEKCLNNQQLHFLHIGSCQDGRQLEWGLERTRLSSNSTKKESCGYDTCYDWE
                     KCSASTSKCVCLLPPQCFKGGNQLYCVKMGSSTSEKTLNICEVGTIRCANRKMEILHPG
                     KCLA"
     sig_peptide     178..240
                     /gene="C6"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     241..2979
                     /gene="C6"
                     /product="Complement component C6. /id=PRO_0000023579"
                     /note="propagated from UniProtKB/Swiss-Prot (P13671.3)"
     misc_feature    262..264
                     /gene="C6"
                     /note="C-linked (Man) tryptophan.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P13671.3); glycosylation site"
     misc_feature    271..273
                     /gene="C6"
                     /note="C-linked (Man) tryptophan, partial.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P13671.3); glycosylation site"
     misc_feature    289..291
                     /gene="C6"
                     /note="O-linked (Fuc...) threonine.
                     /evidence=ECO:0000305|PubMed:22267737; propagated from
                     UniProtKB/Swiss-Prot (P13671.3); glycosylation site"
     misc_feature    445..447
                     /gene="C6"
                     /note="C-linked (Man) tryptophan, partial.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P13671.3); glycosylation site"
     misc_feature    1147..1149
                     /gene="C6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:22267737; propagated from
                     UniProtKB/Swiss-Prot (P13671.3); glycosylation site"
     misc_feature    1351..1353
                     /gene="C6"
                     /note="O-linked (Fuc...) threonine.
                     /evidence=ECO:0000305|PubMed:22267737; propagated from
                     UniProtKB/Swiss-Prot (P13671.3); glycosylation site"
     misc_feature    1879..1881
                     /gene="C6"
                     /note="C-linked (Man) tryptophan, partial.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P13671.3); glycosylation site"
     misc_feature    1888..1890
                     /gene="C6"
                     /note="C-linked (Man) tryptophan, partial.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P13671.3); glycosylation site"
     misc_feature    1897..1899
                     /gene="C6"
                     /note="C-linked (Man) tryptophan, partial.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P13671.3); glycosylation site"
     misc_feature    2008..2241
                     /gene="C6"
                     /note="propagated from UniProtKB/Swiss-Prot (P13671.3);
                     Region: CCP 1"
     misc_feature    2101..2979
                     /gene="C6"
                     /note="propagated from UniProtKB/Swiss-Prot (P13671.3);
                     Region: C5b-binding domain"
     misc_feature    2242..2472
                     /gene="C6"
                     /note="propagated from UniProtKB/Swiss-Prot (P13671.3);
                     Region: CCP 2"
     misc_feature    2473..2697
                     /gene="C6"
                     /note="propagated from UniProtKB/Swiss-Prot (P13671.3);
                     Region: Factor I module (FIM) 1"
     misc_feature    2740..2742
                     /gene="C6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P13671.3); glycosylation site"
     misc_feature    2749..2979
                     /gene="C6"
                     /note="propagated from UniProtKB/Swiss-Prot (P13671.3);
                     Region: Factor I module (FIM) 2"
     regulatory      3318..3323
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6"
                     /note="hexamer: AATAAA"
     regulatory      3348..3353
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6"
                     /note="hexamer: AATAAA"
     polyA_site      3365
                     /gene="C6"
                     /note="major polyA site"
     polyA_site      3381
                     /gene="C6"
                     /note="major polyA site"
     regulatory      3481..3486
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6"
                     /note="hexamer: AATAAA"
     polyA_site      3499
                     /gene="C6"
                     /note="major polyA site"
     regulatory      3551..3556
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6"
                     /note="hexamer: AATAAA"
     polyA_site      3574
                     /gene="C6"
     regulatory      3669..3674
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6"
                     /note="hexamer: AATAAA"
     polyA_site      3691
                     /gene="C6"
ORIGIN
        1 aggcttctgg gatatgacag cattgccttg tgttagctag caataagaaa agaagctttg
       61 tttggattaa catatatacc ctcttcattc tgcataccta ttttttcccc aataatttgc
      121 agcttaggtc cgaggacacc acaaactctg cttaaagggc ctggaggctc tcaaggcatg
      181 gccagacgct ctgtcttgta cttcatcctg ctgaatgctc tgatcaacaa gggccaagcc
      241 tgcttctgtg atcactatgc atggactcag tggaccagct gctcaaaaac ttgcaattct
      301 ggaacccaga gcagacacag acaaatagta gtagataagt actaccagga aaacttttgt
      361 gaacagattt gcagcaagca ggagactaga gaatgtaact ggcaaagatg ccccatcaac
      421 tgcctcctgg gagattttgg accatggtca gactgtgacc cttgtattga aaaacagtct
      481 aaagttagat ctgtcttgcg tcccagtcag tttgggggac agccatgcac tgcgcctctg
      541 gtagcctttc aaccatgcat tccatctaag ctctgcaaaa ttgaagaggc tgactgcaag
      601 aataaatttc gctgtgacag tggccgctgc attgccagaa agttagaatg caatggagaa
      661 aatgactgtg gagacaattc agatgaaagg gactgtggga ggacaaaggc agtatgcaca
      721 cggaagtata atcccatccc tagtgtacag ttgatgggca atgggtttca ttttctggca
      781 ggagagccca gaggagaagt ccttgataac tctttcactg gaggaatatg taaaactgtc
      841 aaaagcagta ggacaagtaa tccataccgt gttccggcca atctggaaaa tgtcggcttt
      901 gaggtacaaa ctgcagaaga tgacttgaaa acagatttct acaaggattt aacttctctt
      961 ggacacaatg aaaatcaaca aggctcattc tcaagtcagg gggggagctc tttcagtgta
     1021 ccaatttttt attcctcaaa gagaagtgaa aatatcaacc ataattctgc cttcaaacaa
     1081 gccattcaag cctctcacaa aaaggattct agttttatta ggatccataa agtgatgaaa
     1141 gtcttaaact tcacaacgaa agctaaagat ctgcaccttt ctgatgtctt tttgaaagca
     1201 cttaaccatc tgcctctaga atacaactct gctttgtaca gccgaatatt cgatgacttt
     1261 gggactcatt acttcacctc tggctccctg ggaggcgtgt atgaccttct ctatcagttt
     1321 agcagtgagg aactaaagaa ctcaggttta accgaggaag aagccaaaca ctgtgtcagg
     1381 attgaaacaa agaaacgcgt tttatttgct aagaaaacaa aagtggaaca taggtgcacc
     1441 accaacaagc tgtcagagaa acatgaaggt tcatttatac agggagcaga gaaatccata
     1501 tccctgattc gaggtggaag gagtgaatat ggagcagctt tggcatggga gaaagggagc
     1561 tctggtctgg aggagaagac attttctgag tggttagaat cagtgaagga aaatcctgct
     1621 gtgattgact ttgagcttgc ccccatcgtg gacttggtaa gaaacatccc ctgtgcagtg
     1681 acaaaacgga acaacctcag gaaagctttg caagagtatg cagccaagtt cgatccttgc
     1741 cagtgtgctc catgccctaa taatggccga cccaccctct cagggactga atgtctgtgt
     1801 gtgtgtcaga gtggcaccta tggtgagaac tgtgagaaac agtctccaga ttataaatcc
     1861 aatgcagtag acggacagtg gggttgttgg tcttcctgga gtacctgtga tgctacttat
     1921 aagagatcga gaacccgaga atgcaataat cctgcccccc aacgaggagg gaaacgctgt
     1981 gagggggaga agcgacaaga ggaagactgc acattttcaa tcatggaaaa caatggacaa
     2041 ccatgtatca atgatgacga agaaatgaaa gaggtcgatc ttcctgagat agaagcagat
     2101 tccgggtgtc ctcagccagt tcctccagaa aatggattta tccggaatga aaagcaacta
     2161 tacttggttg gagaagatgt tgaaatttca tgccttactg gctttgaaac tgttggatac
     2221 cagtacttca gatgcttacc agacgggacc tggagacaag gggatgtgga atgccaacgg
     2281 acggagtgca tcaagccagt tgtgcaggaa gtcctgacaa ttacaccatt tcagagattg
     2341 tatagaattg gtgaatccat tgagctaact tgccccaaag gctttgttgt tgctgggcca
     2401 tcaaggtaca catgccaggg gaattcctgg acaccaccca tttcaaactc tctcacctgt
     2461 gaaaaagata ctctaacaaa attaaaaggc cattgtcagc tgggacagaa acaatcagga
     2521 tctgaatgca tttgtatgtc tccagaagaa gactgtagcc atcattcaga agatctctgt
     2581 gtgtttgaca cagactccaa cgattacttt acttcacccg cttgtaagtt tttggctgag
     2641 aaatgtttaa ataatcagca actccatttt ctacatattg gttcctgcca agacggccgc
     2701 cagttagaat ggggtcttga aaggacaaga ctttcatcca acagcacaaa gaaagaatcc
     2761 tgtggctatg acacctgcta tgactgggaa aaatgttcag cctccacttc caaatgtgtc
     2821 tgcctattgc ccccacagtg cttcaagggt ggaaaccaac tctactgtgt caaaatggga
     2881 tcatcaacaa gtgagaaaac attgaacatc tgtgaagtgg gaactataag atgtgcaaac
     2941 aggaagatgg aaatactgca tcctggaaag tgtttggcct agcacaatta ctgctaggcc
     3001 cagcacaatg aacagattta ccatcccgaa gaaccaactc ctacaaatga gaattcttgc
     3061 acaaacagca gactggcatg ctcaaagtta ctgacaaaaa ttattttctg ttagtttgag
     3121 atcattattc tcccctgact ctcctgtttg ggcatgtctt attcagttcc agctcatgac
     3181 gccctgtagc atacccctag gtaccaactt ccacagcagt ctcgtaaatt ctcctgttca
     3241 cattgtacaa aaataatgtg acttctgagg cccttatgta gcctgtgaca ttaagcattc
     3301 tcgcaattag aaataagaat aaaacccata attttcttca atgagttaat aaacagaaat
     3361 ctccagaacc tctgaaacac attcttgaag cccagctttc atatcttcat tcaacaaata
     3421 atttctgagt gtgtatacag gatgtcaagt actgaccaaa gtcctgagaa ctcggcagat
     3481 aataaaacag acaaaagcct ttgccttcat gaagcataca ttcattcagg ggtagacaca
     3541 caaaaaatga aataaacagg taaaatatgt agcatgtttg atggtgataa ttgttttgga
     3601 gaaaatacaa cacggaaggg tgagtcccat ccttaattat catcttatgc aaggaaatat
     3661 tccataacaa taaacatcgc tgtaaggatg a
//
LOCUS       NM_000066               2040 bp    mRNA    linear   PRI 05-JUL-2023
DEFINITION  Homo sapiens complement C8 beta chain (C8B), transcript variant 1,
            mRNA.
ACCESSION   NM_000066
VERSION     NM_000066.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2040)
  AUTHORS   Lovelace LL, Cooper CL, Sodetz JM and Lebioda L.
  TITLE     Structure of human C8 protein provides mechanistic insight into
            membrane pore formation by complement
  JOURNAL   J Biol Chem 286 (20), 17585-17592 (2011)
   PUBMED   21454577
REFERENCE   2  (bases 1 to 2040)
  AUTHORS   Brannen CL and Sodetz JM.
  TITLE     Incorporation of human complement C8 into the membrane attack
            complex is mediated by a binding site located within the C8beta
            MACPF domain
  JOURNAL   Mol Immunol 44 (5), 960-965 (2007)
   PUBMED   16624411
REFERENCE   3  (bases 1 to 2040)
  AUTHORS   Saucedo L, Ackermann L, Platonov AE, Gewurz A, Rakita RM and Densen
            P.
  TITLE     Delineation of additional genetic bases for C8 beta deficiency.
            Prevalence of null alleles and predominance of C-->T transition in
            their genesis
  JOURNAL   J Immunol 155 (10), 5022-5028 (1995)
   PUBMED   7594510
REFERENCE   4  (bases 1 to 2040)
  AUTHORS   Dewald G, Hemmer S and Nothen MM.
  TITLE     Human complement component C8. Molecular basis of the beta-chain
            polymorphism
  JOURNAL   FEBS Lett 340 (3), 211-215 (1994)
   PUBMED   8131848
REFERENCE   5  (bases 1 to 2040)
  AUTHORS   Kaufmann T, Rittner C and Schneider PM.
  TITLE     The human complement component C8B gene: structure and phylogenetic
            relationship
  JOURNAL   Hum Genet 92 (1), 69-75 (1993)
   PUBMED   8365729
REFERENCE   6  (bases 1 to 2040)
  AUTHORS   Ng SC, Rao AG, Howard OM and Sodetz JM.
  TITLE     The eighth component of human complement: evidence that it is an
            oligomeric serum protein assembled from products of three different
            genes
  JOURNAL   Biochemistry 26 (17), 5229-5233 (1987)
   PUBMED   3676249
REFERENCE   7  (bases 1 to 2040)
  AUTHORS   Rogde S, Olaisen B, Gedde-Dahl T Jr and Teisberg P.
  TITLE     The C8A and C8B loci are closely linked on chromosome 1
  JOURNAL   Ann Hum Genet 50 (2), 139-144 (1986)
   PUBMED   3435043
REFERENCE   8  (bases 1 to 2040)
  AUTHORS   Rogde,S., Mevag,B., Teisberg,P., Gedde-Dahl,T. Jr., Tedesco,F. and
            Olaisen,B.
  TITLE     Genetic polymorphism of complement component C8
  JOURNAL   Hum Genet 70 (3), 211-216 (1985)
   PUBMED   3879968
REFERENCE   9  (bases 1 to 2040)
  AUTHORS   Alper,C.A., Marcus,D., Raum,D., Petersen,B.H. and Spira,T.J.
  TITLE     Genetic polymorphism in C8 beta-chains. Evidence for two unlinked
            genetic loci for the eighth component of human complement (C8)
  JOURNAL   J Clin Invest 72 (5), 1526-1531 (1983)
   PUBMED   6415112
REFERENCE   10  (bases 1 to 2040)
  AUTHORS   Nicholson,A. and Lepow,I.H.
  TITLE     Host defense against Neisseria meningitidis requires a
            complement-dependent bactericidal activity
  JOURNAL   Science 205 (4403), 298-299 (1979)
   PUBMED   451601
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.133305.1,
            SRR5189664.116950.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968189, SAMEA1968968
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371237.9/ ENSP00000360281.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121998.7.
            On Nov 22, 2018 this sequence version replaced NM_000066.3.
            Summary: This gene encodes one of the three subunits of the
            complement component 8 (C8) protein. C8 is composed of equimolar
            amounts of alpha, beta and gamma subunits, which are encoded by
            three separate genes. C8 is one component of the membrane attack
            complex, which mediates cell lysis, and it initiates membrane
            penetration of the complex. This protein mediates the interaction
            of C8 with the C5b-7 membrane attack complex precursor. In humans
            deficiency of this protein is associated with increased risk of
            meningococcal infections. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jun 2013].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2040
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.2"
     gene            1..2040
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="complement C8 beta chain"
                     /db_xref="GeneID:732"
                     /db_xref="HGNC:HGNC:1353"
                     /db_xref="MIM:120960"
     CDS             68..1843
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; complement component C8 beta chain; complement
                     component 8 subunit beta; complement component 8, beta
                     polypeptide"
                     /codon_start=1
                     /product="complement component C8 beta chain isoform 1
                     preproprotein"
                     /protein_id="NP_000057.3"
                     /db_xref="CCDS:CCDS30730.1"
                     /db_xref="GeneID:732"
                     /db_xref="HGNC:HGNC:1353"
                     /db_xref="MIM:120960"
                     /translation="MKNSRTWAWRAPVELFLLCAALGCLSLPGSRGERPHSFGSNAVNK
                     SFAKSRQMRSVDVTLMPIDCELSSWSSWTTCDPCQKKRYRYAYLLQPSQFHGEPCNFSD
                     KEVEDCVTNRPCGSQVRCEGFVCAQTGRCVNRRLLCNGDNDCGDQSDEANCRRIYKKCQ
                     HEMDQYWGIGSLASGINLFTNSFEGPVLDHRYYAGGCSPHYILNTRFRKPYNVESYTPQ
                     TQGKYEFILKEYESYSDFERNVTEKMASKSGFSFGFKIPGIFELGISSQSDRGKHYIRR
                     TKRFSHTKSVFLHARSDLEVAHYKLKPRSLMLHYEFLQRVKRLPLEYSYGEYRDLFRDF
                     GTHYITEAVLGGIYEYTLVMNKEAMERGDYTLNNVHACAKNDFKIGGAIEEVYVSLGVS
                     VGKCRGILNEIKDRNKRDTMVEDLVVLVRGGASEHITTLAYQELPTADLMQEWGDAVQY
                     NPAIIKVKVEPLYELVTATDFAYSSTVRQNMKQALEEFQKEVSSCHCAPCQGNGVPVLK
                     GSRCDCICPVGSQGLACEVSYRKNTPIDGKWNCWSNWSSCSGRRKTRQRQCNNPPPQNG
                     GSPCSGPASETLDCS"
     sig_peptide     68..163
                     /gene="C8B"
                     /gene_synonym="C82"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     proprotein      164..1840
                     /gene="C8B"
                     /gene_synonym="C82"
                     /product="complement component C8 beta chain isoform 1
                     proprotein"
     mat_peptide     230..1840
                     /gene="C8B"
                     /gene_synonym="C82"
                     /product="Complement component C8 beta chain.
                     /id=PRO_0000023592"
                     /note="propagated from UniProtKB/Swiss-Prot (P07358.4)"
     misc_feature    275..277
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="C-linked (Man) tryptophan.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P07358.4); glycosylation site"
     misc_feature    284..286
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="C-linked (Man) tryptophan.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P07358.4); glycosylation site"
     misc_feature    368..370
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P07358.4); glycosylation site"
     misc_feature    794..796
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P07358.4); glycosylation site"
     misc_feature    1319..1321
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:21454577; propagated from
                     UniProtKB/Swiss-Prot (P07358.4); phosphorylation site"
     misc_feature    1718..1720
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="C-linked (Man) tryptophan.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P07358.4); glycosylation site"
     misc_feature    1727..1729
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="C-linked (Man) tryptophan.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P07358.4); glycosylation site"
     misc_feature    1769..1840
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="propagated from UniProtKB/Swiss-Prot (P07358.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1976..1981
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="hexamer: AATAAA"
     polyA_site      2003
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="major polyA site"
     regulatory      2013..2018
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="hexamer: AATAAA"
     polyA_site      2040
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="major polyA site"
ORIGIN
        1 ggcactcaca gcacaggctt gttatgggtc tagcagcctc tgtggcatct cctgtcacat
       61 tgggaaaatg aagaattcca ggacatgggc ttggagggcg ccggtggagc tatttcttct
      121 ctgtgctgcc ctgggctgtc tcagtttgcc tggctccaga ggtgaaaggc cacattcctt
      181 tgggtcaaat gcagtcaaca agagctttgc taagagcaga cagatgcgga gtgtggatgt
      241 taccctgatg cccattgatt gtgagctgtc tagttggtcc tcttggacca catgtgaccc
      301 ctgtcagaag aaaaggtaca ggtatgccta cttgctccag ccctctcagt tccatgggga
      361 accgtgcaac ttctctgaca aggaagtcga agactgtgtt accaacagac catgcggaag
      421 tcaagtgcga tgtgaaggct ttgtgtgtgc acagacagga aggtgtgtaa accgcagact
      481 tctttgcaat ggggacaatg actgtggaga ccagtcagat gaagcaaact gtagaaggat
      541 ttataaaaaa tgtcagcatg aaatggacca atactgggga attggcagtc tggccagtgg
      601 gataaatttg ttcacaaaca gttttgaggg cccagttctt gatcacaggt attatgcagg
      661 tggatgctcc ccgcattaca tcctgaacac gaggtttagg aagccctaca atgtggaaag
      721 ctacacgcca cagacccaag gcaaatacga attcatatta aaagagtatg aatcatactc
      781 agattttgaa cgcaatgtca cagagaaaat ggcaagcaag tctggtttca gttttggttt
      841 taaaatacct ggaatatttg aacttggcat cagtagtcaa agtgatcgag gcaaacacta
      901 tattaggaga accaaacgat tctctcatac taaaagcgta tttctgcatg cacgctctga
      961 ccttgaagta gcacattaca agctgaaacc cagaagcctc atgctccatt acgagttcct
     1021 tcagagagtt aagcggctgc ccctggagta cagctacggg gaatacagag atctcttccg
     1081 tgattttggg acccactaca tcacagaggc tgtgcttggg ggcatttatg aatacaccct
     1141 cgttatgaac aaagaggcca tggagagagg agattatact cttaacaacg tccatgcctg
     1201 tgccaaaaat gattttaaaa ttggtggtgc cattgaagag gtctacgtca gtctgggtgt
     1261 gtctgtaggc aaatgcagag gtattctgaa tgaaataaaa gacagaaaca agagggacac
     1321 catggtggag gacttggtgg tcctggtacg aggaggggca agtgagcaca tcaccaccct
     1381 ggcataccag gagctgccga cggcggacct gatgcaggag tggggagacg ctgtgcagta
     1441 caacccagcc atcatcaaag ttaaggtgga gcctctgtat gaactagtga cagccacaga
     1501 ttttgcctat tccagcacag tgaggcagaa catgaagcag gcactggagg agttccagaa
     1561 ggaagttagt tcctgccact gtgctccctg ccaaggaaat ggagtccctg tcctgaaagg
     1621 atcacgctgt gactgcatct gtcctgttgg atcccaaggc ctagcctgtg aggtctccta
     1681 tcggaagaat acccccattg atgggaagtg gaattgctgg tcaaattggt cttcatgctc
     1741 tggaagacgt aagacaagac aaaggcagtg taacaatcca cctcctcaaa atgggggtag
     1801 cccctgttca ggccctgctt cagaaacact tgactgctcc tagcagatga tacagcagtg
     1861 ggctacatac aatgagagcc ctgagccctc aagaactcat gccagctcag ccctacacca
     1921 gtttccacct ggagttcatg caagggcaaa aggcagtgcc atgcaagctg tttaaaataa
     1981 agatgttacc ttgtaaaatg caagttgatt taaataaata ctgagttaaa ggcttaagca
//
LOCUS       NM_000067               1562 bp    mRNA    linear   PRI 16-JUN-2023
DEFINITION  Homo sapiens carbonic anhydrase 2 (CA2), transcript variant 1, mRNA.
ACCESSION   NM_000067
VERSION     NM_000067.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1562)
  AUTHORS   Whyte MP.
  TITLE     Carbonic anhydrase II deficiency
  JOURNAL   Bone 169, 116684 (2023)
   PUBMED   36709914
  REMARK    GeneRIF: Carbonic anhydrase II deficiency.
REFERENCE   2  (bases 1 to 1562)
  AUTHORS   Strowitzki MJ, Nelson R, Garcia MP, Tuffs C, Bleul MB, Fitzsimons S,
            Navas J, Uzieliene I, Ritter AS, Phelan D, Kierans SJ, Blanco A,
            Bernotiene E, Belton O, Schneider M, Cummins EP and Taylor CT.
  TITLE     Carbon Dioxide Sensing by Immune Cells Occurs through Carbonic
            Anhydrase 2-Dependent Changes in Intracellular pH
  JOURNAL   J Immunol 208 (10), 2363-2375 (2022)
   PUBMED   35477686
  REMARK    GeneRIF: Carbon Dioxide Sensing by Immune Cells Occurs through
            Carbonic Anhydrase 2-Dependent Changes in Intracellular pH.
REFERENCE   3  (bases 1 to 1562)
  AUTHORS   Su H, Hu K, Liu Z, Chen K and Xu J.
  TITLE     Carbonic anhydrase 2 and 3 as risk biomarkers for dilated
            cardiomyopathy associated heart failure
  JOURNAL   Ann Palliat Med 10 (12), 12554-12565 (2021)
   PUBMED   35016406
  REMARK    GeneRIF: Carbonic anhydrase 2 and 3 as risk biomarkers for dilated
            cardiomyopathy associated heart failure.
REFERENCE   4  (bases 1 to 1562)
  AUTHORS   Nortunen M, Parkkila S, Saarnio J, Huhta H and Karttunen TJ.
  TITLE     Carbonic Anhydrases II and IX in Non-ampullary Duodenal Adenomas and
            Adenocarcinoma
  JOURNAL   J Histochem Cytochem 69 (11), 677-690 (2021)
   PUBMED   34636283
  REMARK    GeneRIF: Carbonic Anhydrases II and IX in Non-ampullary Duodenal
            Adenomas and Adenocarcinoma.
REFERENCE   5  (bases 1 to 1562)
  AUTHORS   Xing X, Yuan H, Liu H, Tan X, Zhao B, Wang Y, Ouyang J, Lin M, Liu X
            and Huang A.
  TITLE     Quantitative Secretome Analysis Reveals Clinical Values of Carbonic
            Anhydrase II in Hepatocellular Carcinoma
  JOURNAL   Genomics Proteomics Bioinformatics 19 (1), 94-107 (2021)
   PUBMED   33662630
  REMARK    GeneRIF: Quantitative Secretome Analysis Reveals Clinical Values of
            Carbonic Anhydrase II in Hepatocellular Carcinoma.
REFERENCE   6  (bases 1 to 1562)
  AUTHORS   Mangani S and Hakansson K.
  TITLE     Crystallographic studies of the binding of protonated and
            unprotonated inhibitors to carbonic anhydrase using hydrogen
            sulphide and nitrate anions
  JOURNAL   Eur J Biochem 210 (3), 867-871 (1992)
   PUBMED   1336460
REFERENCE   7  (bases 1 to 1562)
  AUTHORS   Roth DE, Venta PJ, Tashian RE and Sly WS.
  TITLE     Molecular basis of human carbonic anhydrase II deficiency
  JOURNAL   Proc Natl Acad Sci U S A 89 (5), 1804-1808 (1992)
   PUBMED   1542674
REFERENCE   8  (bases 1 to 1562)
  AUTHORS   Hu PY, Roth DE, Skaggs LA, Venta PJ, Tashian RE, Guibaud P and Sly
            WS.
  TITLE     A splice junction mutation in intron 2 of the carbonic anhydrase II
            gene of osteopetrosis patients from Arabic countries
  JOURNAL   Hum Mutat 1 (4), 288-292 (1992)
   PUBMED   1301935
REFERENCE   9  (bases 1 to 1562)
  AUTHORS   Kumpulainen,T.
  TITLE     Immunohistochemical localization of human carbonic anhydrase
            isoenzyme C
  JOURNAL   Histochemistry 62 (3), 271-280 (1979)
   PUBMED   114507
REFERENCE   10  (bases 1 to 1562)
  AUTHORS   Henderson,L.E., Henriksson,D. and Nyman,P.O.
  TITLE     Primary structure of human carbonic anhydrase C
  JOURNAL   J Biol Chem 251 (18), 5457-5463 (1976)
   PUBMED   823150
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.213300.1,
            SRR3476690.52551.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000285379.10/ ENSP00000285379.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA431650.1, J03037.1, M36532.1
            and AC084734.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000067.2.
            Summary: The protein encoded by this gene is one of several
            isozymes of carbonic anhydrase, which catalyzes reversible
            hydration of carbon dioxide. Defects in this enzyme are associated
            with osteopetrosis and renal tubular acidosis. Two transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jun 2014].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1562
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.2"
     gene            1..1562
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /note="carbonic anhydrase 2"
                     /db_xref="GeneID:760"
                     /db_xref="HGNC:HGNC:1373"
                     /db_xref="MIM:611492"
     CDS             76..858
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /EC_number="4.2.1.1"
                     /EC_number="4.2.1.69"
                     /note="isoform 1 is encoded by transcript variant 1;
                     carbonate dehydratase II; epididymis secretory protein Li
                     282; carbonic dehydratase; carbonic anhydrase B; carbonic
                     anhydrase C; carbonic anhydrase II; epididymis luminal
                     protein 76; cyanamide hydratase CA2"
                     /codon_start=1
                     /product="carbonic anhydrase 2 isoform 1"
                     /protein_id="NP_000058.1"
                     /db_xref="CCDS:CCDS6239.1"
                     /db_xref="GeneID:760"
                     /db_xref="HGNC:HGNC:1373"
                     /db_xref="MIM:611492"
                     /translation="MSHHWGYGKHNGPEHWHKDFPIAKGERQSPVDIDTHTAKYDPSLK
                     PLSVSYDQATSLRILNNGHAFNVEFDDSQDKAVLKGGPLDGTYRLIQFHFHWGSLDGQG
                     SEHTVDKKKYAAELHLVHWNTKYGDFGKAVQQPDGLAVLGIFLKVGSAKPGLQKVVDVL
                     DSIKTKGKSADFTNFDPRGLLPESLDYWTYPGSLTTPPLLECVTWIVLKEPISVSSEQV
                     LKFRKLNFNGEGEPEELMVDNWRPAQPLKNRQIKASFK"
     misc_feature    79..81
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:4207120,
                     ECO:0000269|PubMed:823150; propagated from
                     UniProtKB/Swiss-Prot (P00918.2); acetylation site"
     misc_feature    79..81
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P27139; propagated from
                     UniProtKB/Swiss-Prot (P00918.2); phosphorylation site"
     misc_feature    94..96
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /note="Fine-tunes the proton-transfer properties of H-64.
                     /evidence=ECO:0000305|PubMed:17330962; propagated from
                     UniProtKB/Swiss-Prot (P00918.2); other site"
     misc_feature    259..261
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /note="Fine-tunes the proton-transfer properties of H-64,
                     involved in the binding of some activators, including
                     histamine and L-histidine.
                     /evidence=ECO:0000269|PubMed:16214338,
                     ECO:0000269|PubMed:9265618, ECO:0000305|PubMed:17330962;
                     propagated from UniProtKB/Swiss-Prot (P00918.2); other
                     site"
     misc_feature    274..276
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /note="Fine-tunes the proton-transfer properties of H-64,
                     involved in the binding of some activators, including
                     histamine and L-histidine.
                     /evidence=ECO:0000269|PubMed:16214338,
                     ECO:0000269|PubMed:9265618, ECO:0000305|PubMed:17330962;
                     propagated from UniProtKB/Swiss-Prot (P00918.2); other
                     site"
     misc_feature    349..351
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /note="Involved in the binding of some activators,
                     including histamine and L-histidine.
                     /evidence=ECO:0000269|PubMed:16214338,
                     ECO:0000269|PubMed:9265618, ECO:0000305|PubMed:17330962;
                     propagated from UniProtKB/Swiss-Prot (P00918.2); other
                     site"
     misc_feature    568..570
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P00918.2); phosphorylation site"
     misc_feature    589..591
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P00918.2); phosphorylation site"
     regulatory      1514..1519
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /note="hexamer: AATAAA"
     polyA_site      1562
                     /gene="CA2"
                     /gene_synonym="CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282"
                     /note="major polyA site"
ORIGIN
        1 acacagtgca ggcgcccaag ccgccgccgc cagatcggtg ccgattcctg ccctgccccg
       61 accgccagcg cgaccatgtc ccatcactgg gggtacggca aacacaacgg acctgagcac
      121 tggcataagg acttccccat tgccaaggga gagcgccagt cccctgttga catcgacact
      181 catacagcca agtatgaccc ttccctgaag cccctgtctg tttcctatga tcaagcaact
      241 tccctgagga tcctcaacaa tggtcatgct ttcaacgtgg agtttgatga ctctcaggac
      301 aaagcagtgc tcaagggagg acccctggat ggcacttaca gattgattca gtttcacttt
      361 cactggggtt cacttgatgg acaaggttca gagcatactg tggataaaaa gaaatatgct
      421 gcagaacttc acttggttca ctggaacacc aaatatgggg attttgggaa agctgtgcag
      481 caacctgatg gactggccgt tctaggtatt tttttgaagg ttggcagcgc taaaccgggc
      541 cttcagaaag ttgttgatgt gctggattcc attaaaacaa agggcaagag tgctgacttc
      601 actaacttcg atcctcgtgg cctccttcct gaatccttgg attactggac ctacccaggc
      661 tcactgacca cccctcctct tctggaatgt gtgacctgga ttgtgctcaa ggaacccatc
      721 agcgtcagca gcgagcaggt gttgaaattc cgtaaactta acttcaatgg ggagggtgaa
      781 cccgaagaac tgatggtgga caactggcgc ccagctcagc cactgaagaa caggcaaatc
      841 aaagcttcct tcaaataaga tggtcccata gtctgtatcc aaataatgaa tcttcgggtg
      901 tttcccttta gctaagcaca gatctacctt ggtgatttgg accctggttg ctttgtgtct
      961 agttttctag acccttcatc tcttacttga tagacttact aataaaatgt gaagactaga
     1021 ccaattgtca tgcttgacac aactgctgtg gctggttggt gctttgttta tggtagtagt
     1081 ttttctgtaa cacagaatat aggataagaa ataagaataa agtaccttga ctttgttcac
     1141 agcatgtagg gtgatgagca ctcacaattg ttgactaaaa tgctgctttt aaaacatagg
     1201 aaagtagaat ggttgagtgc aaatccatag cacaagataa attgagctag ttaaggcaaa
     1261 tcaggtaaaa tagtcatgat tctatgtaat gtaaaccaga aaaaataaat gttcatgatt
     1321 tcaagatgtt atattaaaga aaaactttaa aaattattat atatttatag caaagttatc
     1381 ttaaatatga attctgttgt aatttaatga cttttgaatt acagagatat aaatgaagta
     1441 ttatctgtaa aaattgttat aattagagtt gtgatacaga gtatatttcc attcagacaa
     1501 tatatcataa cttaataaat attgtatttt agatatattc tctaataaaa ttcagaattc
     1561 ta
//
LOCUS       NM_000069               6028 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens calcium voltage-gated channel subunit alpha1 S
            (CACNA1S), mRNA.
ACCESSION   NM_000069
VERSION     NM_000069.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6028)
  AUTHORS   Marinella G, Orsini A, Scacciati M, Costa E, Santangelo A, Astrea G,
            Frosini S, Pasquariello R, Rubegni A, Sgherri G, Corsi M, Bonuccelli
            A and Battini R.
  TITLE     Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene
            Mutation: Case Report and Systematic Review of the Literature
  JOURNAL   Genes (Basel) 14 (7), 1363 (2023)
   PUBMED   37510268
  REMARK    GeneRIF: Congenital Myopathy as a Phenotypic Expression of CACNA1S
            Gene Mutation: Case Report and Systematic Review of the Literature.
            Review article Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6028)
  AUTHORS   Bin X, Wang B and Tang Z.
  TITLE     Malignant Hyperthermia: A Killer If Ignored
  JOURNAL   J Perianesth Nurs 37 (4), 435-444 (2022)
   PUBMED   35414440
REFERENCE   3  (bases 1 to 6028)
  AUTHORS   Yu S, Wang Y, Tang B, Liu X, Song L, Xu G, Zhu H and Sun H.
  TITLE     Four calcium signaling pathway-related genes were upregulated in
            microcystic adnexal carcinoma: transcriptome analysis and
            immunohistochemical validation
  JOURNAL   World J Surg Oncol 20 (1), 142 (2022)
   PUBMED   35509066
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6028)
  AUTHORS   Benitez-Alonso EO, Lopez-Hernandez JC, Galnares-Olalde JA, Alcala RE
            and Vargas-Canas ES.
  TITLE     Short-Communication: Variable Expression of Clinical Symptoms and an
            Unexpected Finding of Vacuolar Myopathy Related to a Pathogenic
            Variant in the CACNA1S Gene in a Previous Case Report
  JOURNAL   Cureus 14 (4), e23760 (2022)
   PUBMED   35509735
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6028)
  AUTHORS   Hogan K, Powers PA and Gregg RG.
  TITLE     Cloning of the human skeletal muscle alpha 1 subunit of the
            dihydropyridine-sensitive L-type calcium channel (CACNL1A3)
  JOURNAL   Genomics 24 (3), 608-609 (1994)
   PUBMED   7713519
REFERENCE   6  (bases 1 to 6028)
  AUTHORS   Weber,F. and Lehmann-Horn,F.
  TITLE     Hypokalemic Periodic Paralysis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301512
REFERENCE   7  (bases 1 to 6028)
  AUTHORS   Rosenberg,H., Sambuughin,N., Riazi,S. and Dirksen,R.
  TITLE     Malignant Hyperthermia Susceptibility
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301325
REFERENCE   8  (bases 1 to 6028)
  AUTHORS   Rotman EI, De Jongh KS, Florio V, Lai Y and Catterall WA.
  TITLE     Specific phosphorylation of a COOH-terminal site on the full-length
            form of the alpha 1 subunit of the skeletal muscle calcium channel
            by cAMP-dependent protein kinase
  JOURNAL   J Biol Chem 267 (23), 16100-16105 (1992)
   PUBMED   1322891
REFERENCE   9  (bases 1 to 6028)
  AUTHORS   Rohrkasten A, Meyer HE, Nastainczyk W, Sieber M and Hofmann F.
  TITLE     cAMP-dependent protein kinase rapidly phosphorylates serine- 687 of
            the skeletal muscle receptor for calcium channel blockers
  JOURNAL   J Biol Chem 263 (30), 15325-15329 (1988)
   PUBMED   2844809
REFERENCE   10  (bases 1 to 6028)
  AUTHORS   Tanabe,T., Takeshima,H., Mikami,A., Flockerzi,V., Takahashi,H.,
            Kangawa,K., Kojima,M., Matsuo,H., Hirose,T. and Numa,S.
  TITLE     Primary structure of the receptor for calcium channel blockers from
            skeletal muscle
  JOURNAL   Nature 328 (6128), 313-318 (1987)
   PUBMED   3037387
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC133671.1, L33798.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000362061.4/ ENSP00000355192.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139159.10 and AL358473.10.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000069.2.
            Summary: This gene encodes one of the five subunits of the slowly
            inactivating L-type voltage-dependent calcium channel in skeletal
            muscle cells. Mutations in this gene have been associated with
            hypokalemic periodic paralysis, thyrotoxic periodic paralysis and
            malignant hyperthermia susceptibility. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6028
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..6028
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="calcium voltage-gated channel subunit alpha1 S"
                     /db_xref="GeneID:779"
                     /db_xref="HGNC:HGNC:1397"
                     /db_xref="MIM:114208"
     CDS             88..5709
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="voltage-gated calcium channel subunit alpha Cav1.1;
                     dihydropyridine-sensitive L-type calcium channel alpha-1
                     subunit; calcium channel, voltage-dependent, L type, alpha
                     1S subunit; dihydropyridine receptor alpha 1 subunit"
                     /codon_start=1
                     /product="voltage-dependent L-type calcium channel subunit
                     alpha-1S"
                     /protein_id="NP_000060.2"
                     /db_xref="CCDS:CCDS1407.1"
                     /db_xref="GeneID:779"
                     /db_xref="HGNC:HGNC:1397"
                     /db_xref="MIM:114208"
                     /translation="MEPSSPQDEGLRKKQPKKPVPEILPRPPRALFCLTLENPLRKACI
                     SIVEWKPFETIILLTIFANCVALAVYLPMPEDDNNSLNLGLEKLEYFFLIVFSIEAAMK
                     IIAYGFLFHQDAYLRSGWNVLDFTIVFLGVFTVILEQVNVIQSHTAPMSSKGAGLDVKA
                     LRAFRVLRPLRLVSGVPSLQVVLNSIFKAMLPLFHIALLVLFMVIIYAIIGLELFKGKM
                     HKTCYFIGTDIVATVENEEPSPCARTGSGRRCTINGSECRGGWPGPNHGITHFDNFGFS
                     MLTVYQCITMEGWTDVLYWVNDAIGNEWPWIYFVTLILLGSFFILNLVLGVLSGEFTKE
                     REKAKSRGTFQKLREKQQLDEDLRGYMSWITQGEVMDVEDFREGKLSLDEGGSDTESLY
                     EIAGLNKIIQFIRHWRQWNRIFRWKCHDIVKSKVFYWLVILIVALNTLSIASEHHNQPL
                     WLTRLQDIANRVLLSLFTTEMLMKMYGLGLRQYFMSIFNRFDCFVVCSGILEILLVESG
                     AMTPLGISVLRCIRLLRIFKITKYWTSLSNLVASLLNSIRSIASLLLLLFLFIVIFALL
                     GMQLFGGRYDFEDTEVRRSNFDNFPQALISVFQVLTGEDWTSMMYNGIMAYGGPSYPGM
                     LVCIYFIILFVCGNYILLNVFLAIAVDNLAEAESLTSAQKAKAEEKKRRKMSKGLPDKS
                     EEEKSTMAKKLEQKPKGEGIPTTAKLKIDEFESNVNEVKDPYPSADFPGDDEEDEPEIP
                     LSPRPRPLAELQLKEKAVPIPEASSFFIFSPTNKIRVLCHRIVNATWFTNFILLFILLS
                     SAALAAEDPIRADSMRNQILKHFDIGFTSVFTVEIVLKMTTYGAFLHKGSFCRNYFNML
                     DLLVVAVSLISMGLESSAISVVKILRVLRVLRPLRAINRAKGLKHVVQCMFVAISTIGN
                     IVLVTTLLQFMFACIGVQLFKGKFFRCTDLSKMTEEECRGYYYVYKDGDPMQIELRHRE
                     WVHSDFHFDNVLSAMMSLFTVSTFEGWPQLLYKAIDSNAEDVGPIYNNRVEMAIFFIIY
                     IILIAFFMMNIFVGFVIVTFQEQGETEYKNCELDKNQRQCVQYALKARPLRCYIPKNPY
                     QYQVWYIVTSSYFEYLMFALIMLNTICLGMQHYNQSEQMNHISDILNVAFTIIFTLEMI
                     LKLMAFKARGYFGDPWNVFDFLIVIGSIIDVILSEIDTFLASSGGLYCLGGGCGNVDPD
                     ESARISSAFFRLFRVMRLIKLLSRAEGVRTLLWTFIKSFQALPYVALLIVMLFFIYAVI
                     GMQMFGKIALVDGTQINRNNNFQTFPQAVLLLFRCATGEAWQEILLACSYGKLCDPESD
                     YAPGEEYTCGTNFAYYYFISFYMLCAFLVINLFVAVIMDNFDYLTRDWSILGPHHLDEF
                     KAIWAEYDPEAKGRIKHLDVVTLLRRIQPPLGFGKFCPHRVACKRLVGMNMPLNSDGTV
                     TFNATLFALVRTALKIKTEGNFEQANEELRAIIKKIWKRTSMKLLDQVIPPIGDDEVTV
                     GKFYATFLIQEHFRKFMKRQEEYYGYRPKKDIVQIQAGLRTIEEEAAPEICRTVSGDLA
                     AEEELERAMVEAAMEEGIFRRTGGLFGQVDNFLERTNSLPPVMANQRPLQFAEIEMEEM
                     ESPVFLEDFPQDPRTNPLARANTNNANANVAYGNSNHSNSHVFSSVHYEREFPEETETP
                     ATRGRALGQPCRVLGPHSKPCVEMLKGLLTQRAMPRGQAPPAPCQCPRVESSMPEDRKS
                     STPGSLHEETPHSRSTRENTSRCSAPATALLIQKALVRGGLGTLAADANFIMATGQALA
                     DACQMEPEEVEIMATELLKGREAPEGMASSLGCLNLGSSLGSLDQHQGSQETLIPPRL"
     misc_feature    88..156
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    199..1098
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: I. /evidence=ECO:0000305"
     misc_feature    241..297
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    322..324
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13698.4); glycosylation site"
     misc_feature    343..405
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    433..495
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    568..624
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    676..741
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    856..858
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13698.4); glycosylation site"
     misc_feature    955..966
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: Selectivity filter of repeat I.
                     /evidence=ECO:0000250|UniProtKB:P07293"
     misc_feature    1015..1077
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    1156..1209
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: Binding to the beta subunit.
                     /evidence=ECO:0000250|UniProtKB:Q02789"
     misc_feature    1264..1266
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q02789; propagated from
                     UniProtKB/Swiss-Prot (Q13698.4); phosphorylation site"
     misc_feature    1276..1278
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q02789; propagated from
                     UniProtKB/Swiss-Prot (Q13698.4); phosphorylation site"
     misc_feature    1339..2079
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: II. /evidence=ECO:0000305"
     misc_feature    1384..1440
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    1474..1536
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    1570..1629
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    1657..1713
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    1771..1830
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    1921..1932
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: Selectivity filter of repeat II.
                     /evidence=ECO:0000250|UniProtKB:P07293"
     misc_feature    1987..2046
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    2110..2238
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2146..2148
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000250|UniProtKB:P07293; propagated from
                     UniProtKB/Swiss-Prot (Q13698.4); phosphorylation site"
     misc_feature    2278..2358
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2326..2367
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: Interaction with STAC, STAC2 and STAC3 (via SH3
                     domains). /evidence=ECO:0000269|PubMed:29078335"
     misc_feature    2443..3291
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: III. /evidence=ECO:0000305"
     misc_feature    2485..2541
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    2578..2637
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    2686..2742
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    2764..2820
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    2878..2937
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    3049..3318
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: Dihydropyridine binding.
                     /evidence=ECO:0000250|UniProtKB:P07293"
     misc_feature    3121..3132
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: Selectivity filter of repeat III.
                     /evidence=ECO:0000250|UniProtKB:P07293"
     misc_feature    3202..3267
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    3400..4239
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: IV. /evidence=ECO:0000305"
     misc_feature    3442..3507
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    3508..3510
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13698.4); glycosylation site"
     misc_feature    3532..3597
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    3628..3687
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    3781..3837
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    3892..3954
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    4048..4059
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: Selectivity filter of repeat IV.
                     /evidence=ECO:0000250|UniProtKB:P07293"
     misc_feature    4096..4296
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: Dihydropyridine binding.
                     /evidence=ECO:0000250|UniProtKB:P07293"
     misc_feature    4132..4260
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: Phenylalkylamine binding.
                     /evidence=ECO:0000250|UniProtKB:P07293"
     misc_feature    4156..4230
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     transmembrane region"
     misc_feature    4651..4713
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: Interaction with calmodulin.
                     /evidence=ECO:0000269|PubMed:19473981"
     misc_feature    4810..4812
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="Phosphoserine, by PKA and CAMK2.
                     /evidence=ECO:0000250|UniProtKB:P07293; propagated from
                     UniProtKB/Swiss-Prot (Q13698.4); phosphorylation site"
     misc_feature    4936..4938
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000250|UniProtKB:P07293; propagated from
                     UniProtKB/Swiss-Prot (Q13698.4); phosphorylation site"
     misc_feature    5278..5427
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13698.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      5998..6003
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="hexamer: ATTAAA"
     polyA_site      6028
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYP18; DHPRM;
                     HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="major polyA site"
ORIGIN
        1 agtccccaag gcgggggcat tggggacaca gggaagggaa agcactgggg tgggggagca
       61 ggagaaagcc agattcccag ggaagccatg gagccatcct caccccagga tgaaggcctg
      121 aggaagaaac agcccaagaa gccagttcct gagattctgc caaggccacc ccgggccttg
      181 ttctgcctga ccctggagaa ccccctgagg aaggcctgca tcagcattgt agaatggaag
      241 cccttcgaga cgatcatctt gctcaccatc tttgccaatt gtgtggccct ggccgtgtac
      301 ctgcccatgc cggaagatga caacaactct ctgaacctcg gcctggagaa gctggagtat
      361 ttcttcctca ttgtcttctc gattgaagcc gccatgaaga tcattgccta cggcttctta
      421 ttccaccagg acgcttacct gcgcagtggc tggaatgtgc tggacttcac cattgtcttc
      481 ctgggggtct tcaccgtgat tctggaacag gttaacgtca tccaaagcca cacagcccca
      541 atgagcagca aaggagccgg cttggatgtc aaggccctca gagccttccg agtgctcaga
      601 cccctccggc tggtgtcggg ggtgcctagc ctgcaggtgg tcctgaactc catcttcaag
      661 gccatgctcc ccctctttca catcgccctg ctggtcctct ttatggtcat catctatgcc
      721 atcatcgggc tggagctctt caagggcaag atgcacaaga cctgctactt cattggtaca
      781 gatatcgtgg ccacggtgga gaatgaagag ccatcgccct gcgccaggac gggctcaggg
      841 cgccggtgca ccatcaatgg cagtgagtgc cggggcggct ggccagggcc caaccatggc
      901 atcacccact tcgacaactt cggcttctcc atgctcaccg tgtaccagtg cattaccatg
      961 gagggatgga ctgacgtcct ttactgggtc aatgatgcca tcgggaatga gtggccctgg
     1021 atctattttg tcaccctcat tttgctggga tccttcttca tcctcaacct ggtgctgggt
     1081 gtcctgagtg gggaattcac caaggagcgg gagaaggcca agtccagggg aaccttccag
     1141 aagctccggg agaagcagca actagatgag gaccttcggg gctacatgag ctggatcacg
     1201 cagggcgagg tcatggatgt tgaggacttc agagaaggaa aactgtcttt ggatgaaggt
     1261 ggctctgaca cagagagcct gtatgaaatt gcaggcttga acaaaatcat ccagttcatc
     1321 cgacattgga ggcagtggaa ccgcatcttt cgctggaagt gccatgacat cgtgaagtcc
     1381 aaggtcttct attggctggt gattctcatc gttgccctca acaccctgtc tatcgcctca
     1441 gagcaccaca accagcctct ctggctgacc cgtttgcaag acattgccaa ccgggtgctg
     1501 ctgtccctct tcaccactga gatgctgatg aagatgtacg ggctgggcct gcgccagtac
     1561 ttcatgtcta tcttcaaccg cttcgactgc ttcgtggtgt gtagcggtat cctggagatc
     1621 ctgctggtgg agtcgggtgc catgacaccc ctgggcatct ccgtgctccg ctgcatccgc
     1681 ctcctgagga tcttcaagat caccaaatat tggacgtcgc tgagcaacct ggtggcatcc
     1741 ctgctcaact ccatccgctc catcgcctcc ctgctgctgc tgctcttcct cttcatcgtc
     1801 atcttcgccc tcctgggcat gcagctcttt ggggggaggt atgactttga agacacagaa
     1861 gtacggcgca gcaactttga caactttccc caagccctca tcagcgtctt ccaggtactg
     1921 acaggggaag actggacctc aatgatgtac aatgggatca tggcctacgg cgggccgtcc
     1981 taccctggca tgcttgtgtg catttacttc atcatccttt tcgtctgtgg caactacatc
     2041 ctgctcaatg tcttcctggc cattgccgtg gacaacctgg ccgaggcgga gagcctgact
     2101 tctgcccaga aggccaaggc tgaggagaaa aaacgcagga agatgtccaa gggtctccca
     2161 gacaagtcag aagaggagaa gtcaacgatg gccaagaagc tggagcagaa acccaagggt
     2221 gagggcatcc ccaccactgc caagctgaaa atcgatgagt ttgaatctaa tgtcaatgag
     2281 gtgaaggatc cctacccctc agccgacttc ccaggggatg acgaggaaga tgagcctgag
     2341 atcccgctga gcccccgacc acgtcccctg gctgagctgc agctgaaaga gaaggccgtg
     2401 cccattccag aagccagctc cttcttcatc ttcagcccca ccaataagat ccgtgtcctg
     2461 tgtcaccgca tcgtcaatgc cacctggttt accaacttca tcctgctctt catcctgctc
     2521 agcagcgctg cactggctgc ggaagacccc atccgggctg attccatgag aaatcagatc
     2581 cttaaacact ttgacatcgg gttcacctct gtcttcactg tggagattgt cctcaagatg
     2641 acgacctacg gagccttcct gcacaagggt tccttctgcc gcaattactt caacatgctg
     2701 gacctgctgg tggtggccgt gtccctcatc tccatgggac ttgagtccag tgccatctcc
     2761 gtggtgaaga tcctgagggt gctgagggtg ctccgaccac tcagagccat caacagagcc
     2821 aaggggttga agcacgtggt gcagtgcatg ttcgtggcca tcagcaccat cgggaacatc
     2881 gtgctggtca ctaccctcct acagttcatg tttgcctgca tcggcgtcca gctcttcaag
     2941 gggaagttct tcaggtgcac cgacttgtcc aagatgacag aggaggagtg caggggctac
     3001 tactacgtgt acaaggacgg ggaccccatg cagatagagc tgcgtcaccg cgagtgggta
     3061 cacagcgact tccacttcga caatgtgctc tcagccatga tgtccctctt cacggtctcc
     3121 accttcgagg gatggcctca gctgctgtac aaggccatag actccaatgc ggaggacgtg
     3181 ggtcccatct acaacaaccg tgtggagatg gccatcttct tcatcatcta catcatcctc
     3241 attgccttct tcatgatgaa catctttgtg ggcttcgtca ttgtcacctt ccaggagcag
     3301 ggagagactg agtacaagaa ctgtgagctg gacaagaacc agcgccaatg tgtacagtat
     3361 gccctgaagg cccgcccact gaggtgctac attcccaaaa acccatacca gtaccaggtg
     3421 tggtacattg tcacctcctc ctactttgaa tacctgatgt ttgccctcat catgctcaac
     3481 accatctgcc tcggcatgca gcactacaac cagtcggagc agatgaacca catctcagac
     3541 atcctcaatg tggccttcac tatcatcttc accctggaga tgatcctcaa gctcatggcc
     3601 ttcaaggcca ggggctactt tggagacccc tggaatgtgt ttgacttcct gattgtcatt
     3661 ggcagcatca ttgatgtcat cctcagtgag atcgacactt tcctggcctc cagcggggga
     3721 ctgtattgcc tgggtggagg ctgcgggaac gttgacccag atgagagtgc ccgcatctcc
     3781 agcgccttct tccgcctgtt ccgtgtcatg aggctgatca agctgctgag ccgggcagaa
     3841 ggagtgcgaa ccctcctgtg gacgttcatc aagtccttcc aggccctacc ctacgtggct
     3901 ctgctcatcg tcatgctctt cttcatctac gctgtcatcg gcatgcagat gtttgggaag
     3961 atcgccttgg tggatgggac ccaaataaac cggaacaaca acttccagac cttcccacaa
     4021 gctgtgctac tgctcttcag gtgtgcaaca ggtgaggcct ggcaggagat cctactggcc
     4081 tgcagctatg ggaagctgtg tgacccagag tcggactatg ccccagggga ggagtacaca
     4141 tgtggcacca actttgcata ctactacttc atcagcttct acatgctctg tgccttcctg
     4201 gtcatcaacc tctttgtggc tgtcatcatg gacaattttg actacctcac ccgggactgg
     4261 tccatcctgg gccctcatca cctggatgag ttcaaggcca tctgggcaga gtatgaccca
     4321 gaggctaagg ggagaatcaa acacctggac gtggtgaccc tgctgagaag gattcagccc
     4381 cctctgggct ttgggaagtt ctgcccacat cgggtagctt gtaagcggct ggtgggcatg
     4441 aacatgcccc tgaacagcga cggcacagtc accttcaatg ccacactctt tgccctggtc
     4501 cgcacggcac tcaagatcaa gacggaaggt aactttgagc aggccaacga ggagctgagg
     4561 gccatcatca agaagatctg gaagagaacc agcatgaagc tcttggacca ggtcatccct
     4621 ccaataggag atgatgaggt gacagtgggg aagttctacg ccacattcct catccaggag
     4681 cacttccgga agttcatgaa acgccaagag gagtattatg gctatcggcc caagaaggac
     4741 attgtacaga tccaggcagg gctgcggacc attgaggaag aggcagcccc cgagatctgt
     4801 cgcacggtct caggagacct ggctgctgag gaggagctgg agagagccat ggtggaggct
     4861 gcgatggagg agggaatatt ccggaggact ggaggcctgt ttggccaggt ggacaacttc
     4921 ctggaaagga ccaactccct gccccccgtc atggccaatc agagacccct ccagtttgct
     4981 gagatagaga tggaagagat ggagtcacct gtcttcttgg aggacttccc acaagatcca
     5041 cgcaccaacc ccctggctcg tgccaatacc aacaatgcca acgccaatgt cgcctatggc
     5101 aacagcaacc atagcaacag ccatgtgttt tccagtgtcc actatgaaag ggagttccca
     5161 gaagagacag agacgcctgc taccagagga cgagcccttg gccaaccctg cagggtcctg
     5221 ggaccccaca gcaaaccctg tgtggagatg ctgaagggac tgctgaccca gagggcaatg
     5281 cccagaggcc aggcacctcc tgccccctgc cagtgcccca gggtggagtc ctccatgcct
     5341 gaggacagaa agagctccac accagggtct cttcatgagg agacacccca cagcaggagc
     5401 accagggaga atacttccag gtgctcagca ccagctacag ccctgctgat ccaaaaggct
     5461 ctggttcgag ggggcctggg caccttggca gctgatgcaa acttcatcat ggcaacaggc
     5521 caggccctgg cagatgcctg ccaaatggaa ccagaggaag tggagatcat ggcaacagag
     5581 ctactgaaag gacgagaggc cccagagggc atggccagct ccctgggatg cctgaacctc
     5641 gggtcctccc tgggcagcct cgaccaacac cagggctccc aggagaccct tattcctcca
     5701 aggctgtgat gcccacacag catcagcatg ggcttagagc tggcatgacc aatgggggtg
     5761 gggaagttgc tggggtggag aagggctagc ccaccgcagc agcctccctc cctctcagca
     5821 gctagatgca tggcctgagg cagggtggtc aggaaccacc tcaaaaagtg cggaggaagt
     5881 agctggacag gccctgcccc tcaccagcaa gaggcatgat tggatggagc ttctaatgtc
     5941 attcaaaaag gcctggtcag tgcctgtctg gcctagggcc actcccacct gcaggacatt
     6001 aaaatctcca ggcctgtgac actggcaa
//
LOCUS       NM_000070               3315 bp    mRNA    linear   PRI 19-JUN-2023
DEFINITION  Homo sapiens calpain 3 (CAPN3), transcript variant 1, mRNA.
ACCESSION   NM_000070
VERSION     NM_000070.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3315)
  AUTHORS   Wette SG, Lamb GD and Murphy RM.
  TITLE     Calpain-3 Is Not a Sodium Dependent Protease and Simply Requires
            Calcium for Activation
  JOURNAL   Int J Mol Sci 24 (11), 9405 (2023)
   PUBMED   37298357
  REMARK    GeneRIF: Calpain-3 Is Not a Sodium Dependent Protease and Simply
            Requires Calcium for Activation. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3315)
  AUTHORS   Ding F, Huang D, Wang M and Peng J.
  TITLE     An 86 amino acids motif in CAPN3 is essential for formation of the
            nucleolus-localized Def-CAPN3 complex
  JOURNAL   Biochem Biophys Res Commun 623, 66-73 (2022)
   PUBMED   35878425
  REMARK    GeneRIF: An 86 amino acids motif in CAPN3 is essential for formation
            of the nucleolus-localized Def-CAPN3 complex.
REFERENCE   3  (bases 1 to 3315)
  AUTHORS   Mroczek M, Inashkina I, Stavusis J, Zayakin P, Khrunin A, Micule I,
            Kenina V, Zdanovica A, Zidkova J, Fajkusova L, Limborska S, van der
            Kooi AJ, Brusse E, Leonardis L, Maver A, Pajusalu S, Ounap K,
            Puusepp S, Dobosz P, Sypniewski M, Burnyte B and Lace B.
  TITLE     CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain
            3-related
  JOURNAL   Hum Mutat 43 (10), 1347-1353 (2022)
   PUBMED   35731190
  REMARK    GeneRIF: CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1
            calpain 3-related.
REFERENCE   4  (bases 1 to 3315)
  AUTHORS   Khan K, Mehmood S, Liu C, Siddiqui M, Ahmad A, Faiz BY, Chioza BA,
            Baple EA, Ullah MI, Akram Z, Satti HS, Khan R, Harlalka GV, Jameel
            M, Akram T, Baig SM, Crosby AH, Hassan MJ, Zhang F, Davis EE and
            Khan TN.
  TITLE     A recurrent rare intronic variant in CAPN3 alters mRNA splicing and
            causes autosomal recessive limb-girdle muscular dystrophy-1 in three
            Pakistani pedigrees
  JOURNAL   Am J Med Genet A 188 (2), 498-508 (2022)
   PUBMED   34697879
  REMARK    GeneRIF: A recurrent rare intronic variant in CAPN3 alters mRNA
            splicing and causes autosomal recessive limb-girdle muscular
            dystrophy-1 in three Pakistani pedigrees.
REFERENCE   5  (bases 1 to 3315)
  AUTHORS   Sorimachi H, Kinbara K, Kimura S, Takahashi M, Ishiura S, Sasagawa
            N, Sorimachi N, Shimada H, Tagawa K, Maruyama K et al.
  TITLE     Muscle-specific calpain, p94, responsible for limb girdle muscular
            dystrophy type 2A, associates with connectin through IS2, a
            p94-specific sequence
  JOURNAL   J Biol Chem 270 (52), 31158-31162 (1995)
   PUBMED   8537379
REFERENCE   6  (bases 1 to 3315)
  AUTHORS   Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N,
            Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C et al.
  TITLE     Mutations in the proteolytic enzyme calpain 3 cause limb-girdle
            muscular dystrophy type 2A
  JOURNAL   Cell 81 (1), 27-40 (1995)
   PUBMED   7720071
REFERENCE   7  (bases 1 to 3315)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301582
REFERENCE   8  (bases 1 to 3315)
  AUTHORS   Angelini,C.
  TITLE     Calpainopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301490
REFERENCE   9  (bases 1 to 3315)
  AUTHORS   Ohno S, Minoshima S, Kudoh J, Fukuyama R, Shimizu Y, Ohmi-Imajoh S,
            Shimizu N and Suzuki K.
  TITLE     Four genes for the calpain family locate on four distinct human
            chromosomes
  JOURNAL   Cytogenet Cell Genet 53 (4), 225-229 (1990)
   PUBMED   2209092
REFERENCE   10  (bases 1 to 3315)
  AUTHORS   Sorimachi H, Imajoh-Ohmi S, Emori Y, Kawasaki H, Ohno S, Minami Y
            and Suzuki K.
  TITLE     Molecular cloning of a novel mammalian calcium-dependent protease
            distinct from both m- and mu-types. Specific expression of the mRNA
            in skeletal muscle
  JOURNAL   J Biol Chem 264 (33), 20106-20111 (1989)
   PUBMED   2555341
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.88161.1,
            SRR1803615.236543.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000397163.8/ ENSP00000380349.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012651.8.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 26, 2018 this sequence version replaced NM_000070.2.
            Summary: Calpain, a heterodimer consisting of a large and a small
            subunit, is a major intracellular protease, although its function
            has not been well established. This gene encodes a muscle-specific
            member of the calpain large subunit family that specifically binds
            to titin. Mutations in this gene are associated with limb-girdle
            muscular dystrophies type 2A. Alternate promoters and alternative
            splicing result in multiple transcript variants encoding different
            isoforms and some variants are ubiquitously expressed. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3315
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     gene            1..3315
                     /gene="CAPN3"
                     /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; LGMDD4;
                     LGMDR1; nCL-1; p94"
                     /note="calpain 3"
                     /db_xref="GeneID:825"
                     /db_xref="HGNC:HGNC:1480"
                     /db_xref="MIM:114240"
     misc_feature    255..257
                     /gene="CAPN3"
                     /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; LGMDD4;
                     LGMDR1; nCL-1; p94"
                     /note="upstream in-frame stop codon"
     CDS             306..2771
                     /gene="CAPN3"
                     /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; LGMDD4;
                     LGMDR1; nCL-1; p94"
                     /EC_number="3.4.22.54"
                     /note="isoform a is encoded by transcript variant 1;
                     calpain, large polypeptide L3; calpain p94, large
                     [catalytic] subunit; muscle-specific calcium-activated
                     neutral protease 3 large subunit; new calpain 1"
                     /codon_start=1
                     /product="calpain-3 isoform a"
                     /protein_id="NP_000061.1"
                     /db_xref="CCDS:CCDS45245.1"
                     /db_xref="GeneID:825"
                     /db_xref="HGNC:HGNC:1480"
                     /db_xref="MIM:114240"
                     /translation="MPTVISASVAPRTAAEPRSPGPVPHPAQSKATEAGGGNPSGIYSA
                     IISRNFPIIGVKEKTFEQLHKKCLEKKVLYVDPEFPPDETSLFYSQKFPIQFVWKRPPE
                     ICENPRFIIDGANRTDICQGELGDCWFLAAIACLTLNQHLLFRVIPHDQSFIENYAGIF
                     HFQFWRYGEWVDVVIDDCLPTYNNQLVFTKSNHRNEFWSALLEKAYAKLHGSYEALKGG
                     NTTEAMEDFTGGVAEFFEIRDAPSDMYKIMKKAIERGSLMGCSIDDGTNMTYGTSPSGL
                     NMGELIARMVRNMDNSLLQDSDLDPRGSDERPTRTIIPVQYETRMACGLVRGHAYSVTG
                     LDEVPFKGEKVKLVRLRNPWGQVEWNGSWSDRWKDWSFVDKDEKARLQHQVTEDGEFWM
                     SYEDFIYHFTKLEICNLTADALQSDKLQTWTVSVNEGRWVRGCSAGGCRNFPDTFWTNP
                     QYRLKLLEEDDDPDDSEVICSFLVALMQKNRRKDRKLGASLFTIGFAIYEVPKEMHGNK
                     QHLQKDFFLYNASKARSKTYINMREVSQRFRLPPSEYVIVPSTYEPHQEGEFILRVFSE
                     KRNLSEEVENTISVDRPVKKKKTKPIIFVSDRANSNKELGVDQESEEGKGKTSPDKQKQ
                     SPQPQPGSSDQESEEQQQFRNIFKQIAGDDMEICADELKKVLNTVVNKHKDLKTHGFTL
                     ESCRSMIALMDTDGSGKLNLQEFHHLWNKIKAWQKIFKHYDTDQSGTINSYEMRNAVND
                     AGFHLNNQLYDIITMRYADKHMNIDFDSFICCFVRLEGMFRAFHAFDKDGDGIIKLNVL
                     EWLQLTMYA"
     misc_feature    324..416
                     /gene="CAPN3"
                     /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; LGMDD4;
                     LGMDR1; nCL-1; p94"
                     /note="propagated from UniProtKB/Swiss-Prot (P20807.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1557..2063
                     /gene="CAPN3"
                     /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; LGMDD4;
                     LGMDR1; nCL-1; p94"
                     /note="propagated from UniProtKB/Swiss-Prot (P20807.2);
                     Region: Domain III"
     misc_feature    2064..2252
                     /gene="CAPN3"
                     /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; LGMDD4;
                     LGMDR1; nCL-1; p94"
                     /note="propagated from UniProtKB/Swiss-Prot (P20807.2);
                     Region: Linker"
     misc_feature    2130..2261
                     /gene="CAPN3"
                     /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; LGMDD4;
                     LGMDR1; nCL-1; p94"
                     /note="propagated from UniProtKB/Swiss-Prot (P20807.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2253..2768
                     /gene="CAPN3"
                     /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; LGMDD4;
                     LGMDR1; nCL-1; p94"
                     /note="propagated from UniProtKB/Swiss-Prot (P20807.2);
                     Region: Domain IV"
     regulatory      3291..3296
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPN3"
                     /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; LGMDD4;
                     LGMDR1; nCL-1; p94"
                     /note="hexamer: AATAAA"
     polyA_site      3315
                     /gene="CAPN3"
                     /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; LGMDD4;
                     LGMDR1; nCL-1; p94"
                     /note="major polyA site"
ORIGIN
        1 actctctttc tctctccctc tggcatgcat gctgctggta ggagaccccc aagtcaacat
       61 tgcttcagaa atcctttagc actcatttct caggagaact tatggcttca gaatcacagc
      121 tcggttttta agatggacat aacctgtacg accttctgat gggctttcaa ctttgaactg
      181 gatgtggaca cttttctctc agatgacaga attactccaa cttccccttt gcagttgctt
      241 cctttccttg aaggtagctg tatcttattt tctttaaaaa gctttttctt ccaaagccac
      301 ttgccatgcc gaccgtcatt agcgcatctg tggctccaag gacagcggct gagccccggt
      361 ccccagggcc agttcctcac ccggcccaga gcaaggccac tgaggctggg ggtggaaacc
      421 caagtggcat ctattcagcc atcatcagcc gcaattttcc tattatcgga gtgaaagaga
      481 agacattcga gcaacttcac aagaaatgtc tagaaaagaa agttctttat gtggaccctg
      541 agttcccacc ggatgagacc tctctctttt atagccagaa gttccccatc cagttcgtct
      601 ggaagagacc tccggaaatt tgcgagaatc cccgatttat cattgatgga gccaacagaa
      661 ctgacatctg tcaaggagag ctaggggact gctggtttct cgcagccatt gcctgcctga
      721 ccctgaacca gcaccttctt ttccgagtca taccccatga tcaaagtttc atcgaaaact
      781 acgcagggat cttccacttc cagttctggc gctatggaga gtgggtggac gtggttatag
      841 atgactgcct gccaacgtac aacaatcaac tggttttcac caagtccaac caccgcaatg
      901 agttctggag tgctctgctg gagaaggctt atgctaagct ccatggttcc tacgaagctc
      961 tgaaaggtgg gaacaccaca gaggccatgg aggacttcac aggaggggtg gcagagtttt
     1021 ttgagatcag ggatgctcct agtgacatgt acaagatcat gaagaaagcc atcgagagag
     1081 gctccctcat gggctgctcc attgatgatg gcacgaacat gacctatgga acctctcctt
     1141 ctggtctgaa catgggggag ttgattgcac ggatggtaag gaatatggat aactcactgc
     1201 tccaggactc agacctcgac cccagaggct cagatgaaag accgacccgg acaatcattc
     1261 cggttcagta tgagacaaga atggcctgcg ggctggtcag aggtcacgcc tactctgtca
     1321 cggggctgga tgaggtcccg ttcaaaggtg agaaagtgaa gctggtgcgg ctgcggaatc
     1381 cgtggggcca ggtggagtgg aacggttctt ggagtgatag atggaaggac tggagctttg
     1441 tggacaaaga tgagaaggcc cgtctgcagc accaggtcac tgaggatgga gagttctgga
     1501 tgtcctatga ggatttcatc taccatttca caaagttgga gatctgcaac ctcacggccg
     1561 atgctctgca gtctgacaag cttcagacct ggacagtgtc tgtgaacgag ggccgctggg
     1621 tacggggttg ctctgccgga ggctgccgca acttcccaga tactttctgg accaaccctc
     1681 agtaccgtct gaagctcctg gaggaggacg atgaccctga tgactcggag gtgatttgca
     1741 gcttcctggt ggccctgatg cagaagaacc ggcggaagga ccggaagcta ggggccagtc
     1801 tcttcaccat tggcttcgcc atctacgagg ttcccaaaga gatgcacggg aacaagcagc
     1861 acctgcagaa ggacttcttc ctgtacaacg cctccaaggc caggagcaaa acctacatca
     1921 acatgcggga ggtgtcccag cgcttccgcc tgcctcccag cgagtacgtc atcgtgccct
     1981 ccacctacga gccccaccag gagggggaat tcatcctccg ggtcttctct gaaaagagga
     2041 acctctctga ggaagttgaa aataccatct ccgtggatcg gccagtgaaa aagaaaaaaa
     2101 ccaagcccat catcttcgtt tcggacagag caaacagcaa caaggagctg ggtgtggacc
     2161 aggagtcaga ggagggcaaa ggcaaaacaa gccctgataa gcaaaagcag tccccacagc
     2221 cacagcctgg cagctctgat caggaaagtg aggaacagca acaattccgg aacattttca
     2281 agcagatagc aggagatgac atggagatct gtgcagatga gctcaagaag gtccttaaca
     2341 cagtcgtgaa caaacacaag gacctgaaga cacacgggtt cacactggag tcctgccgta
     2401 gcatgattgc gctcatggat acagatggct ctggaaagct caacctgcag gagttccacc
     2461 acctctggaa caagattaag gcctggcaga aaattttcaa acactatgac acagaccagt
     2521 ccggcaccat caacagctac gagatgcgaa atgcagtcaa cgacgcagga ttccacctca
     2581 acaaccagct ctatgacatc attaccatgc ggtacgcaga caaacacatg aacatcgact
     2641 ttgacagttt catctgctgc ttcgttaggc tggagggcat gttcagagct tttcatgcat
     2701 ttgacaagga tggagatggt atcatcaagc tcaacgttct ggagtggctg cagctcacca
     2761 tgtatgcctg aaccaggctg gcctcatcca aagccatgca ggatcactca ggatttcagt
     2821 ttcaccctct atttccaaag ccatttacct caaaggaccc agcagctaca cccctacagg
     2881 cttccaggca cctcatcagt catgctcctc ctccatttta ccccctaccc atccttgatc
     2941 ggtcatgcct agcctgaccc tttagtaaag caatgaggta ggaagaacaa acccttgtcc
     3001 ctttgccatg tggaggaaag tgcctgcctc tggtccgagc cgcctcggtt ctgaagcgag
     3061 tgctcctgct taccttgctc taggctgtct gcagaagcac ctgccggtgg cactcagcac
     3121 ctccttgtgc tagagccctc catcaccttc acgctgtccc accatgggcc aggaaccaaa
     3181 ccagcactgg gttctactgc tgtggggtaa actaactcag tggaataggg ctggttactt
     3241 tgggctgtcc aactcataag tttggctgca ttttgaaaaa agctgatcta aataaaggca
     3301 tgtgtatggc tggtc
//
LOCUS       NM_000071               2495 bp    mRNA    linear   PRI 24-MAY-2023
DEFINITION  Homo sapiens cystathionine beta-synthase (CBS), transcript variant
            1, mRNA.
ACCESSION   NM_000071
VERSION     NM_000071.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2495)
  AUTHORS   Bai J, Lechuga TJ, Makhoul J, Yan H, Major C, Hameed A and Chen DB.
  TITLE     ERalpha/ERbeta-directed CBS transcription mediates E2beta-stimulated
            hUAEC H2S production
  JOURNAL   J Mol Endocrinol 70 (2), e220175 (2023)
   PUBMED   36476832
  REMARK    GeneRIF: ERalpha/ERbeta-directed CBS transcription mediates
            E2beta-stimulated hUAEC H2S production. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2495)
  AUTHORS   Bhatt A and Ali ME.
  TITLE     Understanding the role of R266K mutation in cystathionine
            beta-synthase (CBS) enzyme: an in silico study
  JOURNAL   J Biomol Struct Dyn 40 (23), 12690-12698 (2022)
   PUBMED   34495791
  REMARK    GeneRIF: Understanding the role of R266K mutation in cystathionine
            beta-synthase (CBS) enzyme: an in silico study.
REFERENCE   3  (bases 1 to 2495)
  AUTHORS   Erdelyi K, Ditroi T, Johansson HJ, Czikora A, Balog N, Silwal-Pandit
            L, Ida T, Olasz J, Hajdu D, Matrai Z, Csuka O, Uchida K, Tovari J,
            Engebraten O, Akaike T, Borresen Dale AL, Kasler M, Lehtio J and
            Nagy P.
  TITLE     Reprogrammed transsulfuration promotes basal-like breast tumor
            progression via realigning cellular cysteine persulfidation
  JOURNAL   Proc Natl Acad Sci U S A 118 (45) (2021)
   PUBMED   34737229
  REMARK    GeneRIF: Reprogrammed transsulfuration promotes basal-like breast
            tumor progression via realigning cellular cysteine persulfidation.
REFERENCE   4  (bases 1 to 2495)
  AUTHORS   Saba N and Irshad S.
  TITLE     Congenital cataract: An ocular manifestation of classical
            homocystinuria
  JOURNAL   Mol Genet Genomic Med 9 (9), e1742 (2021)
   PUBMED   34342182
  REMARK    GeneRIF: Congenital cataract: An ocular manifestation of classical
            homocystinuria.
REFERENCE   5  (bases 1 to 2495)
  AUTHORS   Sacharow,S.J., Picker,J.D. and Levy,H.L.
  TITLE     Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301697
REFERENCE   6  (bases 1 to 2495)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 2495)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301299
REFERENCE   8  (bases 1 to 2495)
  AUTHORS   Kraus,J., Packman,S., Fowler,B. and Rosenberg,L.E.
  TITLE     Purification and properties of cystathionine beta-synthase from
            human liver. Evidence for identical subunits
  JOURNAL   J Biol Chem 253 (18), 6523-6528 (1978)
   PUBMED   681363
REFERENCE   9  (bases 1 to 2495)
  AUTHORS   Griffiths,R. and Tudball,N.
  TITLE     The molecular defect in a case of (cystathionine
            beta-synthase)-deficient homocystinuria
  JOURNAL   Eur J Biochem 74 (2), 269-273 (1977)
   PUBMED   404147
REFERENCE   10  (bases 1 to 2495)
  AUTHORS   Longhi,R.C., Fleisher,L.D., Tallan,H.H. and Gaull,G.E.
  TITLE     Cystathionine beta-synthase deficiency: a qualitative abnormality of
            the deficient enzyme modified by vitamin B6 therapy
  JOURNAL   Pediatr Res 11 (2), 100-103 (1977)
   PUBMED   840498
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X82166.1, BC000440.2 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000398165.8/ ENSP00000381231.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC300040.1, BC000440.2,
            AL137314.1 and X82166.1.
            On Dec 4, 2019 this sequence version replaced NM_000071.2.
            Summary: The protein encoded by this gene acts as a homotetramer to
            catalyze the conversion of homocysteine to cystathionine, the first
            step in the transsulfuration pathway. The encoded protein is
            allosterically activated by adenosyl-methionine and uses pyridoxal
            phosphate as a cofactor. Defects in this gene can cause
            cystathionine beta-synthase deficiency (CBSD), which can lead to
            homocystinuria. This gene is a major contributor to cellular
            hydrogen sulfide production. Multiple alternatively spliced
            transcript variants have been found for this gene. [provided by
            RefSeq, Feb 2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2495
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..2495
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /note="cystathionine beta-synthase"
                     /db_xref="GeneID:875"
                     /db_xref="HGNC:HGNC:1550"
                     /db_xref="MIM:613381"
     misc_feature    109..111
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /note="upstream in-frame stop codon"
     CDS             151..1806
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /EC_number="4.2.1.22"
                     /note="isoform 1 is encoded by transcript variant 1; serine
                     sulfhydrase; beta-thionase; methylcysteine synthase;
                     Cystathionine beta-synthase-like protein"
                     /codon_start=1
                     /product="cystathionine beta-synthase isoform 1"
                     /protein_id="NP_000062.1"
                     /db_xref="CCDS:CCDS13693.1"
                     /db_xref="GeneID:875"
                     /db_xref="HGNC:HGNC:1550"
                     /db_xref="MIM:613381"
                     /translation="MPSETPQAEVGPTGCPHRSGPHSAKGSLEKGSPEDKEAKEPLWIR
                     PDAPSRCTWQLGRPASESPHHHTAPAKSPKILPDILKKIGDTPMVRINKIGKKFGLKCE
                     LLAKCEFFNAGGSVKDRISLRMIEDAERDGTLKPGDTIIEPTSGNTGIGLALAAAVRGY
                     RCIIVMPEKMSSEKVDVLRALGAEIVRTPTNARFDSPESHVGVAWRLKNEIPNSHILDQ
                     YRNASNPLAHYDTTADEILQQCDGKLDMLVASVGTGGTITGIARKLKEKCPGCRIIGVD
                     PEGSILAEPEELNQTEQTTYEVEGIGYDFIPTVLDRTVVDKWFKSNDEEAFTFARMLIA
                     QEGLLCGGSAGSTVAVAVKAAQELQEGQRCVVILPDSVRNYMTKFLSDRWMLQKGFLKE
                     EDLTEKKPWWWHLRVQELGLSAPLTVLPTITCGHTIEILREKGFDQAPVVDEAGVILGM
                     VTLGNMLSSLLAGKVQPSDQVGKVIYKQFKQIRLTDTLGRLSHILEMDHFALVVHEQIQ
                     YHSTGKSSQRQMVFGVVTAIDLLNFVAAQERDQK"
     misc_feature    151..372
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /note="propagated from UniProtKB/Swiss-Prot (P35520.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    229..231
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P35520.2); phosphorylation site"
     misc_feature    745..747
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P35520.2); phosphorylation site"
     regulatory      2477..2482
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /note="hexamer: TATAAA"
     polyA_site      2495
                     /gene="CBS"
                     /gene_synonym="CBSL; HIP4"
                     /note="major polyA site"
ORIGIN
        1 gtcgccgtct ccgcctcgcc gcagtcgggg cagccgctcg cccctctttt ccatgtatcc
       61 gtccaggatc ccatgacaga ttctgttgtc acgtctcctt acagagtttg agcggtgctg
      121 aactgtcagc accatctgtc cggtcccagc atgccttctg agacccccca ggcagaagtg
      181 gggcccacag gctgccccca ccgctcaggg ccacactcgg cgaaggggag cctggagaag
      241 gggtccccag aggataagga agccaaggag cccctgtgga tccggcccga tgctccgagc
      301 aggtgcacct ggcagctggg ccggcctgcc tccgagtccc cacatcacca cactgccccg
      361 gcaaaatctc caaaaatctt gccagatatt ctgaagaaaa tcggggacac ccctatggtc
      421 agaatcaaca agattgggaa gaagttcggc ctgaagtgtg agctcttggc caagtgtgag
      481 ttcttcaacg cgggcgggag cgtgaaggac cgcatcagcc tgcggatgat tgaggatgct
      541 gagcgcgacg ggacgctgaa gcccggggac acgattatcg agccgacatc cgggaacacc
      601 gggatcgggc tggccctggc tgcggcagtg aggggctatc gctgcatcat cgtgatgcca
      661 gagaagatga gctccgagaa ggtggacgtg ctgcgggcac tgggggctga gattgtgagg
      721 acgcccacca atgccaggtt cgactccccg gagtcacacg tgggggtggc ctggcggctg
      781 aagaacgaaa tccccaattc tcacatccta gaccagtacc gcaacgccag caaccccctg
      841 gctcactacg acaccaccgc tgatgagatc ctgcagcagt gtgatgggaa gctggacatg
      901 ctggtggctt cagtgggcac gggcggcacc atcacgggca ttgccaggaa gctgaaggag
      961 aagtgtcctg gatgcaggat cattggggtg gatcccgaag ggtccatcct cgcagagccg
     1021 gaggagctga accagacgga gcagacaacc tacgaggtgg aagggatcgg ctacgacttc
     1081 atccccacgg tgctggacag gacggtggtg gacaagtggt tcaagagcaa cgatgaggag
     1141 gcgttcacct ttgcccgcat gctgatcgcg caagaggggc tgctgtgcgg tggcagtgct
     1201 ggcagcacgg tggcggtggc cgtgaaggcc gcgcaggagc tgcaggaggg ccagcgctgc
     1261 gtggtcattc tgcccgactc agtgcggaac tacatgacca agttcctgag cgacaggtgg
     1321 atgctgcaga agggctttct gaaggaggag gacctcacgg agaagaagcc ctggtggtgg
     1381 cacctccgtg ttcaggagct gggcctgtca gccccgctga ccgtgctccc gaccatcacc
     1441 tgtgggcaca ccatcgagat cctccgggag aagggcttcg accaggcgcc cgtggtggat
     1501 gaggcggggg taatcctggg aatggtgacg cttgggaaca tgctctcgtc cctgcttgcc
     1561 gggaaggtgc agccgtcaga ccaagttggc aaagtcatct acaagcagtt caaacagatc
     1621 cgcctcacgg acacgctggg caggctctcg cacatcctgg agatggacca cttcgccctg
     1681 gtggtgcacg agcagatcca gtaccacagc accgggaagt ccagtcagcg gcagatggtg
     1741 ttcggggtgg tcaccgccat tgacttgctg aacttcgtgg ccgcccagga gcgggaccag
     1801 aagtgaagtc cggagcgctg ggcggtgcgg agcgggcccg ccacccttgc ccacttctcc
     1861 ttcgctttcc tgagccctaa acacacgcgt gattggtaac tgcctggcct ggcaccgtta
     1921 tccctgcaca cggcacagag catccgtctc ccctcgttaa cacatggctt cctaaatggc
     1981 cctgtttacg gcctatgaga tgaaatatgt gattttctct aatgtaactt cctcttagga
     2041 tgtttcacca aggaaatatt gagagagaag tcggccaggt aggatgaaca caggcaatga
     2101 ctgcgcagag tggattaaag gcaaaagaga gaagagtcca ggaaggggcg gggagaagcc
     2161 tgggtggctc agcatcctcc acgggctgcg ccgtctgctc ggggctgagc tggcgggagc
     2221 agtttgcgtg tttgggtttt ttaattgaga tgaaattcaa ataacctaaa aatcaatcac
     2281 ttgaaagtga acaatcagcg gcatttagta catccagaaa gttgtgtagg caccacctct
     2341 gtcacgttct ggaacattct gtcatcaccc cgtgaagcaa tcatttcccc tcccgtcttc
     2401 ctcctcccct ggcaactgct gatcgacttt gtgtctctgt tgtctaaaat aggttttccc
     2461 tgttctggac atttcatata aatggaatca cacaa
//
LOCUS       NM_000073               2690 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens CD3 gamma subunit of T-cell receptor complex (CD3G),
            mRNA.
ACCESSION   NM_000073
VERSION     NM_000073.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2690)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2690)
  AUTHORS   Dong D, Zheng L, Lin J, Zhang B, Zhu Y, Li N, Xie S, Wang Y, Gao N
            and Huang Z.
  TITLE     Structural basis of assembly of the human T cell receptor-CD3
            complex
  JOURNAL   Nature 573 (7775), 546-552 (2019)
   PUBMED   31461748
  REMARK    Erratum:[Nature. 2021 Feb;590(7846):E52. PMID: 33526937]
REFERENCE   3  (bases 1 to 2690)
  AUTHORS   Muro R, Takayanagi H and Nitta T.
  TITLE     T cell receptor signaling for gammadeltaT cell development
  JOURNAL   Inflamm Regen 39, 6 (2019)
   PUBMED   30976362
  REMARK    Review article Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2690)
  AUTHORS   Gaud G, Lesourne R and Love PE.
  TITLE     Regulatory mechanisms in T cell receptor signalling
  JOURNAL   Nat Rev Immunol 18 (8), 485-497 (2018)
   PUBMED   29789755
  REMARK    Review article
REFERENCE   5  (bases 1 to 2690)
  AUTHORS   Rowe JH, Delmonte OM, Keles S, Stadinski BD, Dobbs AK, Henderson LA,
            Yamazaki Y, Allende LM, Bonilla FA, Gonzalez-Granado LI, Celikbilek
            Celik S, Guner SN, Kapakli H, Yee C, Pai SY, Huseby ES, Reisli I,
            Regueiro JR and Notarangelo LD.
  TITLE     Patients with CD3G mutations reveal a role for human CD3gamma in
            Treg diversity and suppressive function
  JOURNAL   Blood 131 (21), 2335-2344 (2018)
   PUBMED   29653965
  REMARK    GeneRIF: These data demonstrate that the T-cell repertoire of
            patients with CD3G mutations is characterized by a molecular
            signature that may contribute to the increased rate of autoimmunity
            associated with this condition.
REFERENCE   6  (bases 1 to 2690)
  AUTHORS   Lanier LL, Chang C, Spits H and Phillips JH.
  TITLE     Expression of cytoplasmic CD3 epsilon proteins in activated human
            adult natural killer (NK) cells and CD3 gamma, delta, epsilon
            complexes in fetal NK cells. Implications for the relationship of NK
            and T lymphocytes
  JOURNAL   J Immunol 149 (6), 1876-1880 (1992)
   PUBMED   1387664
REFERENCE   7  (bases 1 to 2690)
  AUTHORS   Arnaiz-Villena A, Timon M, Corell A, Perez-Aciego P, Martin-Villa JM
            and Regueiro JR.
  TITLE     Brief report: primary immunodeficiency caused by mutations in the
            gene encoding the CD3-gamma subunit of the T-lymphocyte receptor
  JOURNAL   N Engl J Med 327 (8), 529-533 (1992)
   PUBMED   1635567
REFERENCE   8  (bases 1 to 2690)
  AUTHORS   Letourneur F and Klausner RD.
  TITLE     A novel di-leucine motif and a tyrosine-based motif independently
            mediate lysosomal targeting and endocytosis of CD3 chains
  JOURNAL   Cell 69 (7), 1143-1157 (1992)
   PUBMED   1535555
REFERENCE   9  (bases 1 to 2690)
  AUTHORS   Arnaiz-Villena A, Perez-Aciego P, Ballestin C, Sotelo T,
            Perez-Seoane C, Martin-Villa JM and Regueiro JR.
  TITLE     Biochemical basis of a novel T lymphocyte receptor immunodeficiency
            by immunohistochemistry. A possible CD3 gamma abnormality
  JOURNAL   Lab Invest 64 (5), 675-681 (1991)
   PUBMED   1709425
  REMARK    GeneRIF: Protein level controlled by OTHER KINASES PROTEINS
REFERENCE   10  (bases 1 to 2690)
  AUTHORS   Alarcon B, Ley SC, Sanchez-Madrid F, Blumberg RS, Ju ST, Fresno M
            and Terhorst C.
  TITLE     The CD3-gamma and CD3-delta subunits of the T cell antigen receptor
            can be expressed within distinct functional TCR/CD3 complexes
  JOURNAL   EMBO J 10 (4), 903-912 (1991)
   PUBMED   1826255
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3282162.1,
            SRR14038196.1560833.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000532917.3/ ENSP00000431445.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC378393.1, X04145.1,
            DB116263.1, AK310622.1 and AP001582.4.
            On Nov 22, 2019 this sequence version replaced NM_000073.2.
            Summary: The protein encoded by this gene is the CD3-gamma
            polypeptide, which together with CD3-epsilon, -delta and -zeta, and
            the T-cell receptor alpha/beta and gamma/delta heterodimers, forms
            the T-cell receptor-CD3 complex. This complex plays an important
            role in coupling antigen recognition to several intracellular
            signal-transduction pathways. The genes encoding the epsilon, gamma
            and delta polypeptides are located in the same cluster on
            chromosome 11. Defects in this gene are associated with T cell
            immunodeficiency. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 5' end.
FEATURES             Location/Qualifiers
     source          1..2690
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..2690
                     /gene="CD3G"
                     /gene_synonym="CD3-GAMMA; CD3GAMMA; IMD17; T3G"
                     /note="CD3 gamma subunit of T-cell receptor complex"
                     /db_xref="GeneID:917"
                     /db_xref="HGNC:HGNC:1675"
                     /db_xref="MIM:186740"
     CDS             81..629
                     /gene="CD3G"
                     /gene_synonym="CD3-GAMMA; CD3GAMMA; IMD17; T3G"
                     /note="CD3g antigen, gamma polypeptide (TiT3 complex);
                     T-cell receptor T3 gamma chain; T-cell antigen receptor
                     complex, gamma subunit of T3; T-cell surface glycoprotein
                     CD3 gamma chain; CD3g molecule, epsilon (CD3-TCR complex);
                     CD3g molecule, gamma (CD3-TCR complex)"
                     /codon_start=1
                     /product="T-cell surface glycoprotein CD3 gamma chain
                     precursor"
                     /protein_id="NP_000064.1"
                     /db_xref="CCDS:CCDS8395.1"
                     /db_xref="GeneID:917"
                     /db_xref="HGNC:HGNC:1675"
                     /db_xref="MIM:186740"
                     /translation="MEQGKGLAVLILAIILLQGTLAQSIKGNHLVKVYDYQEDGSVLLT
                     CDAEAKNITWFKDGKMIGFLTEDKKKWNLGSNAKDPRGMYQCKGSQNKSKPLQVYYRMC
                     QNCIELNAATISGFLFAEIVSIFVLAVGVYFIAGQDGVRQSRASDKQTLLPNDQLYQPL
                     KDREDDQYSHLQGNQLRRN"
     sig_peptide     81..146
                     /gene="CD3G"
                     /gene_synonym="CD3-GAMMA; CD3GAMMA; IMD17; T3G"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     147..626
                     /gene="CD3G"
                     /gene_synonym="CD3-GAMMA; CD3GAMMA; IMD17; T3G"
                     /product="T-cell surface glycoprotein CD3 gamma chain.
                     /id=PRO_0000014615"
                     /note="propagated from UniProtKB/Swiss-Prot (P09693.1)"
     misc_feature    234..236
                     /gene="CD3G"
                     /gene_synonym="CD3-GAMMA; CD3GAMMA; IMD17; T3G"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:8636209; propagated from
                     UniProtKB/Swiss-Prot (P09693.1); glycosylation site"
     misc_feature    354..356
                     /gene="CD3G"
                     /gene_synonym="CD3-GAMMA; CD3GAMMA; IMD17; T3G"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:8636209; propagated from
                     UniProtKB/Swiss-Prot (P09693.1); glycosylation site"
     misc_feature    429..491
                     /gene="CD3G"
                     /gene_synonym="CD3-GAMMA; CD3GAMMA; IMD17; T3G"
                     /note="propagated from UniProtKB/Swiss-Prot (P09693.1);
                     transmembrane region"
     misc_feature    513..515
                     /gene="CD3G"
                     /gene_synonym="CD3-GAMMA; CD3GAMMA; IMD17; T3G"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:2540970,
                     ECO:0000269|PubMed:3112151; propagated from
                     UniProtKB/Swiss-Prot (P09693.1); phosphorylation site"
     misc_feature    522..524
                     /gene="CD3G"
                     /gene_synonym="CD3-GAMMA; CD3GAMMA; IMD17; T3G"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000269|PubMed:2540970,
                     ECO:0000269|PubMed:3112151, ECO:0000269|PubMed:8187769;
                     propagated from UniProtKB/Swiss-Prot (P09693.1);
                     phosphorylation site"
     misc_feature    537..542
                     /gene="CD3G"
                     /gene_synonym="CD3-GAMMA; CD3GAMMA; IMD17; T3G"
                     /note="propagated from UniProtKB/Swiss-Prot (P09693.1);
                     Region: Di-leucine motif.
                     /evidence=ECO:0000269|PubMed:8187769"
     regulatory      2536..2541
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD3G"
                     /gene_synonym="CD3-GAMMA; CD3GAMMA; IMD17; T3G"
                     /note="hexamer: AATAAA"
     polyA_site      2556
                     /gene="CD3G"
                     /gene_synonym="CD3-GAMMA; CD3GAMMA; IMD17; T3G"
                     /note="major polyA site"
     regulatory      2670..2675
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD3G"
                     /gene_synonym="CD3-GAMMA; CD3GAMMA; IMD17; T3G"
                     /note="hexamer: AATAAA"
     polyA_site      2690
                     /gene="CD3G"
                     /gene_synonym="CD3-GAMMA; CD3GAMMA; IMD17; T3G"
ORIGIN
        1 agtctagctg ctgcacaggc tggctggctg gctggctgct aagggctgct ccacgctttt
       61 gccggaggac agagactgac atggaacagg ggaagggcct ggctgtcctc atcctggcta
      121 tcattcttct tcaaggtact ttggcccagt caatcaaagg aaaccacttg gttaaggtgt
      181 atgactatca agaagatggt tcggtacttc tgacttgtga tgcagaagcc aaaaatatca
      241 catggtttaa agatgggaag atgatcggct tcctaactga agataaaaaa aaatggaatc
      301 tgggaagtaa tgccaaggac cctcgaggga tgtatcagtg taaaggatca cagaacaagt
      361 caaaaccact ccaagtgtat tacagaatgt gtcagaactg cattgaacta aatgcagcca
      421 ccatatctgg ctttctcttt gctgaaatcg tcagcatttt cgtccttgct gttggggtct
      481 acttcattgc tggacaggat ggagttcgcc agtcgagagc ttcagacaag cagactctgt
      541 tgcccaatga ccagctctac cagcccctca aggatcgaga agatgaccag tacagccacc
      601 ttcaaggaaa ccagttgagg aggaattgaa ctcaggactc agagtagtcc aggtgttctc
      661 ctcctattca gttcccagaa tcaaagcaat gcattttgga aagctcctag cagagagact
      721 ttcagcccta aatctagact caaggttccc agagatgaca aatggagaag aaaggccatc
      781 agagcaaatt tgggggtttc tcaaataaaa taaaaataaa aacaaatact gtgtttcaga
      841 agcgccacct attggggaaa attgtaaaag aaaaatgaaa agatcaaata accccctgga
      901 tttgaatata attttttgtg ttgtaatttt tatttcgttt ttgtataggt tataattcac
      961 atggctcaaa tattcagtga aagctctccc tccaccgcca tcccctgcta cccagtgacc
     1021 ctgttgccct cttcagagac aaattagttt ctcttttttt tttttttttt tttttttttg
     1081 agacagtctg gctctgtcac ccaggctgaa atgcagtggc accatctcgg ctcactgcaa
     1141 cctctgcctc ctgggttcaa gcgattctcc tgcctcagcc tcccgggcag ctgggattac
     1201 aggcacacac taccacacct ggctaatttt tgtattttta gtagagacag ggttttgctc
     1261 tgttggccaa gctggtctcg aactcctgac ctcaagtgat ccgcccgcct cagcctccca
     1321 aagtgctggg attacaggtg tgagccacca tgcctggtct taaaaccagt ttcttatata
     1381 tctctctgga ggtattctag gcatatatga gcacattctc aagtacatat tatcctccct
     1441 tcccctatct tttagacaaa tgatatcaaa ctatacatct tgtgagatta ttgcatacca
     1501 ttatatgaag ataccattat atccttttta atgcaaccat attgtacaaa tagactatga
     1561 tttatttaac ctgttatcta tcagtggata tttaagttgg tagttggttc caatcttttg
     1621 ctcttacaac aattctgcaa tgactaacat tgtataaata tcatttttaa aaataattgc
     1681 attgaagcat aatgtacatg ccataaaatc cacccatctt aagtgatttc acctgttctc
     1741 agaaattttt agtaaattta actaattgta cagccattac cataatccag ctttaggaca
     1801 ttttcttttt tttcttttct tttctttttt ttcttttttt tttttttttg aagtggaatc
     1861 ttgctctgtg gcccaggctg gagtgcagtg gcgcgatctc agctcactgc aacctccacc
     1921 tcctgggttc aagcgattct cttgccttgg cctcccgagt agctgagact acaggcacat
     1981 gccaccacgc ccagctcatt ttttgtgtat ttagtatttg tgtatctagt atttgtgtac
     2041 ttagtagaga cagggtttca ccatgttggc caggctggtc tccaattcct gacctcaggc
     2101 gatccacccg ccttgacctc ccaaagtgct gggattacag gtgtgagcca ccgcgccagg
     2161 cccgtaactg tattttaata tagccattct atggatttaa tatggtattt tattatggcc
     2221 ttaatttgca tttccctaga tactaaccat gctgagtgtc ctgtcttgtg tttattaacc
     2281 attcatatat ttttagtgaa atgtgtatca aatcttttgc ccatttttaa gttgacttat
     2341 ttgtttgtct tcttactatt gggttgcata tgtttttgat ataagtcctt tatcagatat
     2401 atgatttgga aatattttct accaatctgt ggtttgtttt tcttaatggt gtcttttgaa
     2461 gtgcaaaagg tttgaatttt gaagtacatt ttattgattt tttcttctat atattgtgct
     2521 tttggtatca tgtctaataa atctttacca aacccacagt tacaaagatt ttctcctgtc
     2581 ttctttttat actttttaca gctttatggt tttagctcta acaataaatg tgattttgaa
     2641 catacataag actatttgta acaaacacaa ataaattgaa ttgttgggca
//
LOCUS       NM_000074               1852 bp    mRNA    linear   PRI 17-MAR-2023
DEFINITION  Homo sapiens CD40 ligand (CD40LG), mRNA.
ACCESSION   NM_000074
VERSION     NM_000074.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1852)
  AUTHORS   Fan H, Huang L, Yang D, Zhang C, Zeng Q, Yin G, Lu G and Shen K.
  TITLE     Respiratory infections in X-linked hyper-IgM syndrome with CD40LG
            mutation: a case series of seven children in China
  JOURNAL   BMC Pediatr 22 (1), 675 (2022)
   PUBMED   36419145
  REMARK    GeneRIF: Respiratory infections in X-linked hyper-IgM syndrome with
            CD40LG mutation: a case series of seven children in China.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1852)
  AUTHORS   Marsman C, Verstegen NJ, Streutker M, Jorritsma T, Boon L, Ten
            Brinke A and van Ham SM.
  TITLE     Termination of CD40L co-stimulation promotes human B cell
            differentiation into antibody-secreting cells
  JOURNAL   Eur J Immunol 52 (10), 1662-1675 (2022)
   PUBMED   36073009
  REMARK    GeneRIF: Termination of CD40L co-stimulation promotes human B cell
            differentiation into antibody-secreting cells.
REFERENCE   3  (bases 1 to 1852)
  AUTHORS   Lenz M, Schonbauer R, Stojkovic S, Lee J, Gatterer C, Lichtenauer M,
            Paar V, Emich M, Fritzer-Szekeres M, Strametz-Juranek J, Graf S and
            Sponder M.
  TITLE     RANTES and CD40L under Conditions of Long-Term Physical Exercise: A
            Potential Link to Adaptive Immunity
  JOURNAL   Int J Environ Res Public Health 19 (14), 8658 (2022)
   PUBMED   35886510
  REMARK    GeneRIF: RANTES and CD40L under Conditions of Long-Term Physical
            Exercise: A Potential Link to Adaptive Immunity. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 1852)
  AUTHORS   Hassan GS, Salti S and Mourad W.
  TITLE     Novel Functions of Integrins as Receptors of CD154: Their Role in
            Inflammation and Apoptosis
  JOURNAL   Cells 11 (11), 1747 (2022)
   PUBMED   35681441
  REMARK    GeneRIF: Novel Functions of Integrins as Receptors of CD154: Their
            Role in Inflammation and Apoptosis. Review article Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 1852)
  AUTHORS   Silva RVDC, Torres LC, da Fonte EJA, Mello MJG, Lima JTO and da
            Matta MC.
  TITLE     Analysis of physical activity and plasma levels of soluble CD40 and
            CD40L in older people with gastrointestinal tract cancer
  JOURNAL   Exp Gerontol 160, 111677 (2022)
   PUBMED   35031307
  REMARK    GeneRIF: Analysis of physical activity and plasma levels of soluble
            CD40 and CD40L in older people with gastrointestinal tract cancer.
REFERENCE   6  (bases 1 to 1852)
  AUTHORS   Dunn,C.P. and de la Morena,M.T.
  TITLE     X-Linked Hyper IgM Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301576
REFERENCE   7  (bases 1 to 1852)
  AUTHORS   Spriggs MK, Armitage RJ, Strockbine L, Clifford KN, Macduff BM, Sato
            TA, Maliszewski CR and Fanslow WC.
  TITLE     Recombinant human CD40 ligand stimulates B cell proliferation and
            immunoglobulin E secretion
  JOURNAL   J Exp Med 176 (6), 1543-1550 (1992)
   PUBMED   1281209
REFERENCE   8  (bases 1 to 1852)
  AUTHORS   Hollenbaugh D, Grosmaire LS, Kullas CD, Chalupny NJ,
            Braesch-Andersen S, Noelle RJ, Stamenkovic I, Ledbetter JA and
            Aruffo A.
  TITLE     The human T cell antigen gp39, a member of the TNF gene family, is a
            ligand for the CD40 receptor: expression of a soluble form of gp39
            with B cell co-stimulatory activity
  JOURNAL   EMBO J 11 (12), 4313-4321 (1992)
   PUBMED   1385114
REFERENCE   9  (bases 1 to 1852)
  AUTHORS   Graf D, Korthauer U, Mages HW, Senger G and Kroczek RA.
  TITLE     Cloning of TRAP, a ligand for CD40 on human T cells
  JOURNAL   Eur J Immunol 22 (12), 3191-3194 (1992)
   PUBMED   1280226
REFERENCE   10  (bases 1 to 1852)
  AUTHORS   Padayachee M, Feighery C, Finn A, McKeown C, Levinsky RJ, Kinnon C
            and Malcolm S.
  TITLE     Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26
            by close linkage to HPRT
  JOURNAL   Genomics 14 (2), 551-553 (1992)
   PUBMED   1427881
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC071754.1, L07414.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370629.7/ ENSP00000359663.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL135783.6, BC071754.1 and
            X67878.1.
            On Aug 31, 2019 this sequence version replaced NM_000074.2.
            Summary: The protein encoded by this gene is expressed on the
            surface of T cells. It regulates B cell function by engaging CD40
            on the B cell surface. A defect in this gene results in an
            inability to undergo immunoglobulin class switch and is associated
            with hyper-IgM syndrome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1852
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     gene            1..1852
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /note="CD40 ligand"
                     /db_xref="GeneID:959"
                     /db_xref="HGNC:HGNC:11935"
                     /db_xref="MIM:300386"
     misc_feature    83..85
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /note="upstream in-frame stop codon"
     CDS             92..877
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /note="tumor necrosis factor (ligand) superfamily member 5;
                     CD40 antigen ligand; T-B cell-activating molecule;
                     TNF-related activation protein; CD40-L; T-cell antigen
                     Gp39"
                     /codon_start=1
                     /product="CD40 ligand"
                     /protein_id="NP_000065.1"
                     /db_xref="CCDS:CCDS14659.1"
                     /db_xref="GeneID:959"
                     /db_xref="HGNC:HGNC:11935"
                     /db_xref="MIM:300386"
                     /translation="MIETYNQTSPRSAATGLPISMKIFMYLLTVFLITQMIGSALFAVY
                     LHRRLDKIEDERNLHEDFVFMKTIQRCNTGERSLSLLNCEEIKSQFEGFVKDIMLNKEE
                     TKKENSFEMQKGDQNPQIAAHVISEASSKTTSVLQWAEKGYYTMSNNLVTLENGKQLTV
                     KRQGLYYIYAQVTFCSNREASSQAPFIASLCLKSPGRFERILLRAANTHSSAKPCGQQS
                     IHLGGVFELQPGASVFVNVTDPSQVSHGTGFTSFGLLKL"
     misc_feature    158..229
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /note="propagated from UniProtKB/Swiss-Prot (P29965.1);
                     transmembrane region"
     misc_feature    425..430
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /note="Cleavage; propagated from UniProtKB/Swiss-Prot
                     (P29965.1); cleavage site"
     misc_feature    809..811
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /note="N-linked (GlcNAc...) (complex) asparagine,
                     alternate. /evidence=ECO:0000269|PubMed:11676606; N-linked
                     (GlcNAc...) (high mannose) asparagine, alternate.
                     /evidence=ECO:0000269|PubMed:11676606; propagated from
                     UniProtKB/Swiss-Prot (P29965.1); glycosylation site"
     regulatory      1177..1182
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /note="hexamer: AGTAAA"
     polyA_site      1200
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /note="major polyA site"
     regulatory      1832..1837
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /note="hexamer: AATAAA"
     polyA_site      1852
                     /gene="CD40LG"
                     /gene_synonym="CD154; CD40L; gp39; hCD40L; HIGM1; IGM;
                     IMD3; T-BAM; TNFSF5; TRAP"
                     /note="major polyA site"
ORIGIN
        1 aatcctgagt aaggtggcca ctttgacagt cttctcatgc tgcctctgcc accttctctg
       61 ccagaagata ccatttcaac tttaacacag catgatcgaa acatacaacc aaacttctcc
      121 ccgatctgcg gccactggac tgcccatcag catgaaaatt tttatgtatt tacttactgt
      181 ttttcttatc acccagatga ttgggtcagc actttttgct gtgtatcttc atagaaggtt
      241 ggacaagata gaagatgaaa ggaatcttca tgaagatttt gtattcatga aaacgataca
      301 gagatgcaac acaggagaaa gatccttatc cttactgaac tgtgaggaga ttaaaagcca
      361 gtttgaaggc tttgtgaagg atataatgtt aaacaaagag gagacgaaga aagaaaacag
      421 ctttgaaatg caaaaaggtg atcagaatcc tcaaattgcg gcacatgtca taagtgaggc
      481 cagcagtaaa acaacatctg tgttacagtg ggctgaaaaa ggatactaca ccatgagcaa
      541 caacttggta accctggaaa atgggaaaca gctgaccgtt aaaagacaag gactctatta
      601 tatctatgcc caagtcacct tctgttccaa tcgggaagct tcgagtcaag ctccatttat
      661 agccagcctc tgcctaaagt cccccggtag attcgagaga atcttactca gagctgcaaa
      721 tacccacagt tccgccaaac cttgcgggca acaatccatt cacttgggag gagtatttga
      781 attgcaacca ggtgcttcgg tgtttgtcaa tgtgactgat ccaagccaag tgagccatgg
      841 cactggcttc acgtcctttg gcttactcaa actctgaaca gtgtcacctt gcaggctgtg
      901 gtggagctga cgctgggagt cttcataata cagcacagcg gttaagccca ccccctgtta
      961 actgcctatt tataacccta ggatcctcct tatggagaac tatttattat acactccaag
     1021 gcatgtagaa ctgtaataag tgaattacag gtcacatgaa accaaaacgg gccctgctcc
     1081 ataagagctt atatatctga agcagcaacc ccactgatgc agacatccag agagtcctat
     1141 gaaaagacaa ggccattatg cacaggttga attctgagta aacagcagat aacttgccaa
     1201 gttcagtttt gtttctttgc gtgcagtgtc tttccatgga taatgcattt gatttatcag
     1261 tgaagatgca gaagggaaat ggggagcctc agctcacatt cagttatggt tgactctggg
     1321 ttcctatggc cttgttggag ggggccaggc tctagaacgt ctaacacagt ggagaaccga
     1381 aacccccccc ccccccccgc caccctctcg gacagttatt cattctcttt caatctctct
     1441 ctctccatct ctctctttca gtctctctct ctcaacctct ttcttccaat ctctctttct
     1501 caatctctct gtttcccttt gtcagtctct tccctccccc agtctctctt ctcaatcccc
     1561 ctttctaaca cacacacaca cacacacaca cacacacaca cacacacaca cacacacaca
     1621 gagtcaggcc gttgctagtc agttctcttc tttccaccct gtccctatct ctaccactat
     1681 agatgagggt gaggagtagg gagtgcagcc ctgagcctgc ccactcctca ttacgaaatg
     1741 actgtattta aaggaaatct attgtatcta cctgcagtct ccattgtttc cagagtgaac
     1801 ttgtaattat cttgttattt attttttgaa taataaagac ctcttaacat ta
//
LOCUS       NM_000075               1865 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens cyclin dependent kinase 4 (CDK4), mRNA.
ACCESSION   NM_000075
VERSION     NM_000075.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1865)
  AUTHORS   Voigt E and Quelle DE.
  TITLE     FOXM1, MEK, and CDK4/6: New Targets for Malignant Peripheral Nerve
            Sheath Tumor Therapy
  JOURNAL   Int J Mol Sci 24 (17), 13596 (2023)
   PUBMED   37686402
  REMARK    GeneRIF: FOXM1, MEK, and CDK4/6: New Targets for Malignant
            Peripheral Nerve Sheath Tumor Therapy. Review article Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1865)
  AUTHORS   Arnaut JRMB, Guimaraes IDS, Dos Santos ACE, Rodrigues EM, Machado
            JRDS and de Melo AC.
  TITLE     CDKN2A/CDK4 status in Brazilian patients meeting clinical criteria
            for hereditary melanoma: a cross-sectional descriptive trial
  JOURNAL   Int J Dermatol 62 (8), 1060-1066 (2023)
   PUBMED   37322831
  REMARK    GeneRIF: CDKN2A/CDK4 status in Brazilian patients meeting clinical
            criteria for hereditary melanoma: a cross-sectional descriptive
            trial.
REFERENCE   3  (bases 1 to 1865)
  AUTHORS   Wang DD, Zhang LZ, Pang CJ and Ye JZ.
  TITLE     Astragaloside IV promotes keratinocyte proliferation and migration
            through upregulating lncRNA H19 recruited ILF3 to enhance the
            stability of CDK4 mRNA
  JOURNAL   Kaohsiung J Med Sci 39 (8), 811-823 (2023)
   PUBMED   37132584
  REMARK    GeneRIF: Astragaloside IV promotes keratinocyte proliferation and
            migration through upregulating lncRNA H19 recruited ILF3 to enhance
            the stability of CDK4 mRNA.
REFERENCE   4  (bases 1 to 1865)
  AUTHORS   He F, Ren T and Tang X.
  TITLE     METTL3-modified lncRNA-MALAT1 regulates the molecular axis of
            miR-124-3p/CDK4 involved in Ewing's sarcoma
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 69 (6), 193-197 (2023)
   PUBMED   37605570
  REMARK    GeneRIF: METTL3-modified lncRNA-MALAT1 regulates the molecular axis
            of miR-124-3p/CDK4 involved in Ewing's sarcoma. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 1865)
  AUTHORS   Yang M, Wang X, Ye Z, Liu T, Meng Y, Duan Y, Yuan X, Yue X, Deng W
            and Liu RY.
  TITLE     Mitochondrial creatine kinase 1 regulates the cell cycle in
            non-small cell lung cancer via activation of cyclin-dependent kinase
            4
  JOURNAL   Respir Res 24 (1), 111 (2023)
   PUBMED   37061730
  REMARK    GeneRIF: Mitochondrial creatine kinase 1 regulates the cell cycle in
            non-small cell lung cancer via activation of cyclin-dependent kinase
            4. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1865)
  AUTHORS   Hall M, Bates S and Peters G.
  TITLE     Evidence for different modes of action of cyclin-dependent kinase
            inhibitors: p15 and p16 bind to kinases, p21 and p27 bind to cyclins
  JOURNAL   Oncogene 11 (8), 1581-1588 (1995)
   PUBMED   7478582
REFERENCE   7  (bases 1 to 1865)
  AUTHORS   Tassan JP, Jaquenoud M, Leopold P, Schultz SJ and Nigg EA.
  TITLE     Identification of human cyclin-dependent kinase 8, a putative
            protein kinase partner for cyclin C
  JOURNAL   Proc Natl Acad Sci U S A 92 (19), 8871-8875 (1995)
   PUBMED   7568034
REFERENCE   8  (bases 1 to 1865)
  AUTHORS   Medema RH, Herrera RE, Lam F and Weinberg RA.
  TITLE     Growth suppression by p16ink4 requires functional retinoblastoma
            protein
  JOURNAL   Proc Natl Acad Sci U S A 92 (14), 6289-6293 (1995)
   PUBMED   7603984
REFERENCE   9  (bases 1 to 1865)
  AUTHORS   Mitchell EL, White GR, Santibanez-Koref MF, Varley JM and Heighway
            J.
  TITLE     Mapping of gene loci in the Q13-Q15 region of chromosome 12
  JOURNAL   Chromosome Res 3 (4), 261-262 (1995)
   PUBMED   7606365
REFERENCE   10  (bases 1 to 1865)
  AUTHORS   Hanks,S.K.
  TITLE     Homology probing: identification of cDNA clones encoding members of
            the protein-serine kinase family
  JOURNAL   Proc Natl Acad Sci U S A 84 (2), 388-392 (1987)
   PUBMED   2948189
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.53469.1,
            SRR1163658.534659.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000257904.11/ ENSP00000257904.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI832658.1, BC003644.2,
            AC025165.27 and BQ773564.1.
            On Nov 22, 2018 this sequence version replaced NM_000075.3.
            Summary: The protein encoded by this gene is a member of the
            Ser/Thr protein kinase family. This protein is highly similar to
            the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a
            catalytic subunit of the protein kinase complex that is important
            for cell cycle G1 phase progression. The activity of this kinase is
            restricted to the G1-S phase, which is controlled by the regulatory
            subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase
            was shown to be responsible for the phosphorylation of
            retinoblastoma gene product (Rb). Mutations in this gene as well as
            in its related proteins including D-type cyclins, p16(INK4a) and Rb
            were all found to be associated with tumorigenesis of a variety of
            cancers. Multiple polyadenylation sites of this gene have been
            reported. [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1865
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.1"
     gene            1..1865
                     /gene="CDK4"
                     /gene_synonym="CMM3; PSK-J3"
                     /note="cyclin dependent kinase 4"
                     /db_xref="GeneID:1019"
                     /db_xref="HGNC:HGNC:1773"
                     /db_xref="MIM:123829"
     misc_feature    99..101
                     /gene="CDK4"
                     /gene_synonym="CMM3; PSK-J3"
                     /note="upstream in-frame stop codon"
     CDS             156..1067
                     /gene="CDK4"
                     /gene_synonym="CMM3; PSK-J3"
                     /EC_number="2.7.11.22"
                     /note="cell division protein kinase 4"
                     /codon_start=1
                     /product="cyclin-dependent kinase 4"
                     /protein_id="NP_000066.1"
                     /db_xref="CCDS:CCDS8953.1"
                     /db_xref="GeneID:1019"
                     /db_xref="HGNC:HGNC:1773"
                     /db_xref="MIM:123829"
                     /translation="MATSRYEPVAEIGVGAYGTVYKARDPHSGHFVALKSVRVPNGGGG
                     GGGLPISTVREVALLRRLEAFEHPNVVRLMDVCATSRTDREIKVTLVFEHVDQDLRTYL
                     DKAPPPGLPAETIKDLMRQFLRGLDFLHANCIVHRDLKPENILVTSGGTVKLADFGLAR
                     IYSYQMALTPVVVTLWYRAPEVLLQSTYATPVDMWSVGCIFAEMFRRKPLFCGNSEADQ
                     LGKIFDLIGLPPEDDWPRDVSLPRGAFPPRGPRPVQSVVPEMEESGAQLLLEMLTFNPH
                     KRISAFRALQHSYLHKDEGNPE"
     misc_feature    159..161
                     /gene="CDK4"
                     /gene_synonym="CMM3; PSK-J3"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P11802.2); acetylation site"
     misc_feature    303..323
                     /gene="CDK4"
                     /gene_synonym="CMM3; PSK-J3"
                     /note="propagated from UniProtKB/Swiss-Prot (P11802.2);
                     Region: Required for binding D-type cyclins"
     misc_feature    669..671
                     /gene="CDK4"
                     /gene_synonym="CMM3; PSK-J3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:16782892,
                     ECO:0000269|PubMed:19237555, ECO:0000269|PubMed:19237565,
                     ECO:0000269|PubMed:19487459, ECO:0007744|PubMed:19369195;
                     propagated from UniProtKB/Swiss-Prot (P11802.2);
                     phosphorylation site"
     regulatory      1347..1352
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDK4"
                     /gene_synonym="CMM3; PSK-J3"
                     /note="hexamer: AATAAT"
     polyA_site      1348
                     /gene="CDK4"
                     /gene_synonym="CMM3; PSK-J3"
                     /note="major polyA site"
     polyA_site      1351
                     /gene="CDK4"
                     /gene_synonym="CMM3; PSK-J3"
     polyA_site      1447
                     /gene="CDK4"
                     /gene_synonym="CMM3; PSK-J3"
     regulatory      1846..1851
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDK4"
                     /gene_synonym="CMM3; PSK-J3"
                     /note="hexamer: AATATA"
     polyA_site      1861
                     /gene="CDK4"
                     /gene_synonym="CMM3; PSK-J3"
     polyA_site      1865
                     /gene="CDK4"
                     /gene_synonym="CMM3; PSK-J3"
ORIGIN
        1 agcttgcggc ctgtgtctat ggtcgggccc tctgcgtcca gctgctccgg accgagctcg
       61 ggtgtatggg gccgtaggaa ccggctccgg ggccccgata acgggccgcc cccacagcac
      121 cccgggctgg cgtgagggtc tcccttgatc tgagaatggc tacctctcga tatgagccag
      181 tggctgaaat tggtgtcggt gcctatggga cagtgtacaa ggcccgtgat ccccacagtg
      241 gccactttgt ggccctcaag agtgtgagag tccccaatgg aggaggaggt ggaggaggcc
      301 ttcccatcag cacagttcgt gaggtggctt tactgaggcg actggaggct tttgagcatc
      361 ccaatgttgt ccggctgatg gacgtctgtg ccacatcccg aactgaccgg gagatcaagg
      421 taaccctggt gtttgagcat gtagaccagg acctaaggac atatctggac aaggcacccc
      481 caccaggctt gccagccgaa acgatcaagg atctgatgcg ccagtttcta agaggcctag
      541 atttccttca tgccaattgc atcgttcacc gagatctgaa gccagagaac attctggtga
      601 caagtggtgg aacagtcaag ctggctgact ttggcctggc cagaatctac agctaccaga
      661 tggcacttac acccgtggtt gttacactct ggtaccgagc tcccgaagtt cttctgcagt
      721 ccacatatgc aacacctgtg gacatgtgga gtgttggctg tatctttgca gagatgtttc
      781 gtcgaaagcc tctcttctgt ggaaactctg aagccgacca gttgggcaaa atctttgacc
      841 tgattgggct gcctccagag gatgactggc ctcgagatgt atccctgccc cgtggagcct
      901 ttccccccag agggccccgc ccagtgcagt cggtggtacc tgagatggag gagtcgggag
      961 cacagctgct gctggaaatg ctgactttta acccacacaa gcgaatctct gcctttcgag
     1021 ctctgcagca ctcttatcta cataaggatg aaggtaatcc ggagtgagca atggagtggc
     1081 tgccatggaa ggaagaaaag ctgccatttc ccttctggac actgagaggg caatctttgc
     1141 ctttatctct gaggctatgg agggtcctcc tccatctttc tacagagatt actttgctgc
     1201 cttaatgaca ttcccctccc acctctcctt ttgaggcttc tccttctcct tcccatttct
     1261 ctacactaag gggtatgttc cctcttgtcc ctttccctac ctttatattt ggggtccttt
     1321 tttatacagg aaaaacaaaa caaagaaata atggtctttt tttttttttt aatgtttctt
     1381 cctctgtttg gctttgccat tgtgcgattt ggaaaaacca cttggaagaa gggactttcc
     1441 tgcaaaacct taaagactgg ttaaattaca gggcctagga agtcagtgga gccccttgac
     1501 tgacaaagct tagaaaggaa ctgaaattgc ttctttgaat atggatttta ggcggggcgt
     1561 ggtggctcac gcctataatc ccagcacgtt gggaggccaa cgcgggtgga tcacctgagg
     1621 tcaggagttc gagaccagcc tgactaacat ggtgaaaccc tgtctctact aaaaatacaa
     1681 aattagtcag gcgtggtggt gcacacctgt aatcccagct acttgggaga ctgaggcagg
     1741 aggatcgctt gaacccggga ggcagaggtt gcggtgagcc gagatcatgc cattgcactc
     1801 cagcctgggc aacagagcaa gactctgtgt caaaaaaaaa aaaagaatat agatttttaa
     1861 atggc
//
LOCUS       NM_000077                978 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens cyclin dependent kinase inhibitor 2A (CDKN2A),
            transcript variant 1, mRNA.
ACCESSION   NM_000077
VERSION     NM_000077.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 978)
  AUTHORS   Kovacs E, Tompa P, Liliom K and Kalmar L.
  TITLE     Dual coding in alternative reading frames correlates with intrinsic
            protein disorder
  JOURNAL   Proc Natl Acad Sci U S A 107 (12), 5429-5434 (2010)
   PUBMED   20212158
  REMARK    GeneRIF: Suggests that the long dual coding region and/or the
            resulting disordered protein structure may facilitate NMD escape of
            the variant encoding the p14ARF isoform.
REFERENCE   2  (bases 1 to 978)
  AUTHORS   Irvine M, Philipsz S, Frausto M, Mijatov B, Gallagher SJ, Fung C,
            Becker TM, Kefford RF and Rizos H.
  TITLE     Amino terminal hydrophobic import signals target the p14(ARF) tumor
            suppressor to the mitochondria
  JOURNAL   Cell Cycle 9 (4), 829-839 (2010)
   PUBMED   20107316
  REMARK    GeneRIF: The interaction of p14(ARF) with mitochondrial proteins,
            including p32 and enables p53-independent cell death.
REFERENCE   3  (bases 1 to 978)
  AUTHORS   Zhang HJ, Li WJ, Yang SY, Li SY, Ni JH and Jia HT.
  TITLE     8-Chloro-adenosine-induced E2F1 promotes p14ARF gene activation in
            H1299 cells through displacing Sp1 from multiple overlapping
            E2F1/Sp1 sites
  JOURNAL   J Cell Biochem 106 (3), 464-472 (2009)
   PUBMED   19115249
  REMARK    GeneRIF: overlapping E2F1/Sp1 site, being present in multiple copies
            in the p14ARF promoter, may serve as the targets for both E2F1 and
            Sp1, thereby playing a crucial role in response to some oncogenic
            signals and stimulators
REFERENCE   4  (bases 1 to 978)
  AUTHORS   Ivanchuk SM, Mondal S and Rutka JT.
  TITLE     p14ARF interacts with DAXX: effects on HDM2 and p53
  JOURNAL   Cell Cycle 7 (12), 1836-1850 (2008)
   PUBMED   18583933
REFERENCE   5  (bases 1 to 978)
  AUTHORS   Bandyopadhyay K, Lee C, Haghighi A, Baneres JL, Parello J and
            Gjerset RA.
  TITLE     Serine phosphorylation-dependent coregulation of topoisomerase I by
            the p14ARF tumor suppressor
  JOURNAL   Biochemistry 46 (49), 14325-14334 (2007)
   PUBMED   18004878
  REMARK    GeneRIF: ARF is a serine phosphorylation-dependent coregulator of
            topoisomerase I in vivo, and it regulates cellular sensitivity to
            camptothecin by interacting with topoisomerase I.
REFERENCE   6  (bases 1 to 978)
  AUTHORS   Lin YC, Diccianni MB, Kim Y, Lin HH, Lee CH, Lin RJ, Joo SH, Li J,
            Chuang TJ, Yang AS, Kuo HH, Tsai MD and Yu AL.
  TITLE     Human p16gamma, a novel transcriptional variant of p16(INK4A),
            coexpresses with p16(INK4A) in cancer cells and inhibits cell-cycle
            progression
  JOURNAL   Oncogene 26 (49), 7017-7027 (2007)
   PUBMED   17486064
  REMARK    GeneRIF: p16gamma, like p16(INK4A), induced cell-cycle arrest at
            G(0)/G(1), and inhibited cell growth in colony formation assay.
            GeneRIF: p16gamma: a novel transcriptional variant of p16INK4A
REFERENCE   7  (bases 1 to 978)
  AUTHORS   Reef S, Zalckvar E, Shifman O, Bialik S, Sabanay H, Oren M and
            Kimchi A.
  TITLE     A short mitochondrial form of p19ARF induces autophagy and
            caspase-independent cell death
  JOURNAL   Mol Cell 22 (4), 463-475 (2006)
   PUBMED   16713577
REFERENCE   8  (bases 1 to 978)
  AUTHORS   Mason SL, Loughran O and La Thangue NB.
  TITLE     p14(ARF) regulates E2F activity
  JOURNAL   Oncogene 21 (27), 4220-4230 (2002)
   PUBMED   12082609
  REMARK    GeneRIF: p14(ARF) down-regulates E2F-dependent transcription. In
            cells undergoing E2F-dependent apoptosis it arrests the cell cycle.
            p14(ARF) has multiple binding domains for E2F-1, one within the
            N-terminal region coinciding with the regulation of E2F activity.
REFERENCE   9  (bases 1 to 978)
  AUTHORS   Hayward N.
  TITLE     New developments in melanoma genetics
  JOURNAL   Curr Oncol Rep 2 (4), 300-306 (2000)
   PUBMED   11122857
  REMARK    Review article
REFERENCE   10  (bases 1 to 978)
  AUTHORS   Robertson KD and Jones PA.
  TITLE     Tissue-specific alternative splicing in the human INK4a/ARF cell
            cycle regulatory locus
  JOURNAL   Oncogene 18 (26), 3810-3820 (1999)
   PUBMED   10445844
REFERENCE   11  (bases 1 to 978)
  AUTHORS   Liu L, Dilworth D, Gao L, Monzon J, Summers A, Lassam N and Hogg D.
  TITLE     Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon
            and predisposes to melanoma
  JOURNAL   Nat Genet 21 (1), 128-132 (1999)
   PUBMED   9916806
REFERENCE   12  (bases 1 to 978)
  AUTHORS   Stott FJ, Bates S, James MC, McConnell BB, Starborg M, Brookes S,
            Palmero I, Ryan K, Hara E, Vousden KH and Peters G.
  TITLE     The alternative product from the human CDKN2A locus, p14(ARF),
            participates in a regulatory feedback loop with p53 and MDM2
  JOURNAL   EMBO J 17 (17), 5001-5014 (1998)
   PUBMED   9724636
REFERENCE   13  (bases 1 to 978)
  AUTHORS   Hara E, Smith R, Parry D, Tahara H, Stone S and Peters G.
  TITLE     Regulation of p16CDKN2 expression and its implications for cell
            immortalization and senescence
  JOURNAL   Mol Cell Biol 16 (3), 859-867 (1996)
   PUBMED   8622687
REFERENCE   14  (bases 1 to 978)
  AUTHORS   Mao L, Merlo A, Bedi G, Shapiro GI, Edwards CD, Rollins BJ and
            Sidransky D.
  TITLE     A novel p16INK4A transcript
  JOURNAL   Cancer Res 55 (14), 2995-2997 (1995)
   PUBMED   7541708
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L27211.1, KC814157.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000304494.10/ ENSP00000307101.5
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI258230.1, L27211.1,
            BQ012762.1 and BX099567.1.
            On May 21, 2020 this sequence version replaced NM_000077.4.
            Summary: This gene generates several transcript variants which
            differ in their first exons. At least three alternatively spliced
            variants encoding distinct proteins have been reported, two of
            which encode structurally related isoforms known to function as
            inhibitors of CDK4 kinase. The remaining transcript includes an
            alternate first exon located 20 Kb upstream of the remainder of the
            gene; this transcript contains an alternate open reading frame
            (ARF) that specifies a protein which is structurally unrelated to
            the products of the other variants. This ARF product functions as a
            stabilizer of the tumor suppressor protein p53 as it can interact
            with, and sequester, the E3 ubiquitin-protein ligase MDM2, a
            protein responsible for the degradation of p53. In spite of the
            structural and functional differences, the CDK inhibitor isoforms
            and the ARF product encoded by this gene, through the regulatory
            roles of CDK4 and p53 in cell cycle G1 progression, share a common
            functionality in cell cycle G1 control. This gene is frequently
            mutated or deleted in a wide variety of tumors, and is known to be
            an important tumor suppressor gene. [provided by RefSeq, Sep 2012].
            Transcript Variant: This variant (1) is also known as alpha.
            Transcripts 1 and 4, encoding p16INK4a and p14ARF, have distinct
            first exons which contain the translation start codon, and share a
            common second exon, which is translated in different reading
            frames. Thus, the p16INK4a protein encoded by this variant (1)
            lacks sequence similarity to the protein product of variant 4
            (p14ARF).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..978
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.3"
     gene            1..978
                     /gene="CDKN2A"
                     /gene_synonym="ARF; CAI2; CDK4I; CDKN2; CMM2; INK4; INK4A;
                     MLM; MTS-1; MTS1; P14; P14ARF; P16; P16-INK4A; P16INK4;
                     P16INK4A; P19; P19ARF; TP16"
                     /note="cyclin dependent kinase inhibitor 2A"
                     /db_xref="GeneID:1029"
                     /db_xref="HGNC:HGNC:1787"
                     /db_xref="MIM:600160"
     CDS             31..501
                     /gene="CDKN2A"
                     /gene_synonym="ARF; CAI2; CDK4I; CDKN2; CMM2; INK4; INK4A;
                     MLM; MTS-1; MTS1; P14; P14ARF; P16; P16-INK4A; P16INK4;
                     P16INK4A; P19; P19ARF; TP16"
                     /note="isoform p16INK4a is encoded by transcript variant 1;
                     multiple tumor suppressor 1; cell cycle negative regulator
                     beta; CDK4 inhibitor p16-INK4; cyclin-dependent kinase 4
                     inhibitor A; cyclin-dependent kinase inhibitor 2A
                     (melanoma, p16, inhibits CDK4); alternative reading frame;
                     CDKN2A/ARF Intron 2 lncRNA; multiple tumour suppressor 1;
                     inhibitor of cdk4 A"
                     /codon_start=1
                     /product="cyclin-dependent kinase inhibitor 2A isoform
                     p16INK4a"
                     /protein_id="NP_000068.1"
                     /db_xref="CCDS:CCDS6510.1"
                     /db_xref="GeneID:1029"
                     /db_xref="HGNC:HGNC:1787"
                     /db_xref="MIM:600160"
                     /translation="MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYG
                     RRPIQVMMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARL
                     DVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD"
     misc_feature    31..33
                     /gene="CDKN2A"
                     /gene_synonym="ARF; CAI2; CDK4I; CDKN2; CMM2; INK4; INK4A;
                     MLM; MTS-1; MTS1; P14; P14ARF; P16; P16-INK4A; P16INK4;
                     P16INK4A; P19; P19ARF; TP16"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P42771.2); acetylation site"
     misc_feature    49..51
                     /gene="CDKN2A"
                     /gene_synonym="ARF; CAI2; CDK4I; CDKN2; CMM2; INK4; INK4A;
                     MLM; MTS-1; MTS1; P14; P14ARF; P16; P16-INK4A; P16INK4;
                     P16INK4A; P19; P19ARF; TP16"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:12529334; propagated from
                     UniProtKB/Swiss-Prot (P42771.2); phosphorylation site"
     misc_feature    52..54
                     /gene="CDKN2A"
                     /gene_synonym="ARF; CAI2; CDK4I; CDKN2; CMM2; INK4; INK4A;
                     MLM; MTS-1; MTS1; P14; P14ARF; P16; P16-INK4A; P16INK4;
                     P16INK4A; P19; P19ARF; TP16"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:12529334; propagated from
                     UniProtKB/Swiss-Prot (P42771.2); phosphorylation site"
     misc_feature    61..150
                     /gene="CDKN2A"
                     /gene_synonym="ARF; CAI2; CDK4I; CDKN2; CMM2; INK4; INK4A;
                     MLM; MTS-1; MTS1; P14; P14ARF; P16; P16-INK4A; P16INK4;
                     P16INK4A; P19; P19ARF; TP16"
                     /note="propagated from UniProtKB/Swiss-Prot (P42771.2);
                     Region: ANK 1"
     misc_feature    160..246
                     /gene="CDKN2A"
                     /gene_synonym="ARF; CAI2; CDK4I; CDKN2; CMM2; INK4; INK4A;
                     MLM; MTS-1; MTS1; P14; P14ARF; P16; P16-INK4A; P16INK4;
                     P16INK4A; P19; P19ARF; TP16"
                     /note="propagated from UniProtKB/Swiss-Prot (P42771.2);
                     Region: ANK 2"
     misc_feature    259..348
                     /gene="CDKN2A"
                     /gene_synonym="ARF; CAI2; CDK4I; CDKN2; CMM2; INK4; INK4A;
                     MLM; MTS-1; MTS1; P14; P14ARF; P16; P16-INK4A; P16INK4;
                     P16INK4A; P19; P19ARF; TP16"
                     /note="propagated from UniProtKB/Swiss-Prot (P42771.2);
                     Region: ANK 3"
     misc_feature    358..447
                     /gene="CDKN2A"
                     /gene_synonym="ARF; CAI2; CDK4I; CDKN2; CMM2; INK4; INK4A;
                     MLM; MTS-1; MTS1; P14; P14ARF; P16; P16-INK4A; P16INK4;
                     P16INK4A; P19; P19ARF; TP16"
                     /note="propagated from UniProtKB/Swiss-Prot (P42771.2);
                     Region: ANK 4"
     misc_feature    448..450
                     /gene="CDKN2A"
                     /gene_synonym="ARF; CAI2; CDK4I; CDKN2; CMM2; INK4; INK4A;
                     MLM; MTS-1; MTS1; P14; P14ARF; P16; P16-INK4A; P16INK4;
                     P16INK4A; P19; P19ARF; TP16"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:12529334; propagated from
                     UniProtKB/Swiss-Prot (P42771.2); phosphorylation site"
     misc_feature    484..486
                     /gene="CDKN2A"
                     /gene_synonym="ARF; CAI2; CDK4I; CDKN2; CMM2; INK4; INK4A;
                     MLM; MTS-1; MTS1; P14; P14ARF; P16; P16-INK4A; P16INK4;
                     P16INK4A; P19; P19ARF; TP16"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:12529334; propagated from
                     UniProtKB/Swiss-Prot (P42771.2); phosphorylation site"
     regulatory      715..720
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDKN2A"
                     /gene_synonym="ARF; CAI2; CDK4I; CDKN2; CMM2; INK4; INK4A;
                     MLM; MTS-1; MTS1; P14; P14ARF; P16; P16-INK4A; P16INK4;
                     P16INK4A; P19; P19ARF; TP16"
                     /note="hexamer: TATAAA"
     polyA_site      737
                     /gene="CDKN2A"
                     /gene_synonym="ARF; CAI2; CDK4I; CDKN2; CMM2; INK4; INK4A;
                     MLM; MTS-1; MTS1; P14; P14ARF; P16; P16-INK4A; P16INK4;
                     P16INK4A; P19; P19ARF; TP16"
                     /note="major polyA site"
     regulatory      945..950
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDKN2A"
                     /gene_synonym="ARF; CAI2; CDK4I; CDKN2; CMM2; INK4; INK4A;
                     MLM; MTS-1; MTS1; P14; P14ARF; P16; P16-INK4A; P16INK4;
                     P16INK4A; P19; P19ARF; TP16"
                     /note="hexamer: AATAAA"
     polyA_site      978
                     /gene="CDKN2A"
                     /gene_synonym="ARF; CAI2; CDK4I; CDKN2; CMM2; INK4; INK4A;
                     MLM; MTS-1; MTS1; P14; P14ARF; P16; P16-INK4A; P16INK4;
                     P16INK4A; P19; P19ARF; TP16"
ORIGIN
        1 gagagcaggc agcgggcggc ggggagcagc atggagccgg cggcggggag cagcatggag
       61 ccttcggctg actggctggc cacggccgcg gcccggggtc gggtagagga ggtgcgggcg
      121 ctgctggagg cgggggcgct gcccaacgca ccgaatagtt acggtcggag gccgatccag
      181 gtcatgatga tgggcagcgc ccgagtggcg gagctgctgc tgctccacgg cgcggagccc
      241 aactgcgccg accccgccac tctcacccga cccgtgcacg acgctgcccg ggagggcttc
      301 ctggacacgc tggtggtgct gcaccgggcc ggggcgcggc tggacgtgcg cgatgcctgg
      361 ggccgtctgc ccgtggacct ggctgaggag ctgggccatc gcgatgtcgc acggtacctg
      421 cgcgcggctg cggggggcac cagaggcagt aaccatgccc gcatagatgc cgcggaaggt
      481 ccctcagaca tccccgattg aaagaaccag agaggctctg agaaacctcg ggaaacttag
      541 atcatcagtc accgaaggtc ctacagggcc acaactgccc ccgccacaac ccaccccgct
      601 ttcgtagttt tcatttagaa aatagagctt ttaaaaatgt cctgcctttt aacgtagata
      661 tatgccttcc cccactaccg taaatgtcca tttatatcat tttttatata ttcttataaa
      721 aatgtaaaaa agaaaaacac cgcttctgcc ttttcactgt gttggagttt tctggagtga
      781 gcactcacgc cctaagcgca cattcatgtg ggcatttctt gcgagcctcg cagcctccgg
      841 aagctgtcga cttcatgaca agcattttgt gaactaggga agctcagggg ggttactggc
      901 ttctcttgag tcacactgct agcaaatggc agaaccaaag ctcaaataaa aataaaataa
      961 ttttcattca ttcactca
//
LOCUS       NM_000078               1691 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens cholesteryl ester transfer protein (CETP), transcript
            variant 1, mRNA.
ACCESSION   NM_000078
VERSION     NM_000078.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1691)
  AUTHORS   Revanasiddappa PD.
  TITLE     Structural insights on the deformations induced by various mutations
            on cholesteryl ester transfer protein
  JOURNAL   Biophys Chem 301, 107093 (2023)
   PUBMED   37639752
  REMARK    GeneRIF: Structural insights on the deformations induced by various
            mutations on cholesteryl ester transfer protein.
REFERENCE   2  (bases 1 to 1691)
  AUTHORS   Abaj F, Esmaeily Z, Naeini Z, Alvandi E, Rafiee M and Koohdani F.
  TITLE     Dietary acid load and its interaction with CETP TaqB1 polymorphisms
            on lipid profile among patients with Type 2 diabetes mellitus
  JOURNAL   BMC Endocr Disord 23 (1), 138 (2023)
   PUBMED   37407953
  REMARK    GeneRIF: Dietary acid load and its interaction with CETP TaqB1
            polymorphisms on lipid profile among patients with Type 2 diabetes
            mellitus. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1691)
  AUTHORS   Semaev S, Shakhtshneider E, Shcherbakova L, Orlov P, Ivanoshchuk D,
            Malyutina S, Gafarov V, Voevoda M and Ragino Y.
  TITLE     Association of Common Variants of APOE, CETP, and the 9p21.3
            Chromosomal Region with the Risk of Myocardial Infarction: A
            Prospective Study
  JOURNAL   Int J Mol Sci 24 (13), 10908 (2023)
   PUBMED   37446094
  REMARK    GeneRIF: Association of Common Variants of APOE, CETP, and the
            9p21.3 Chromosomal Region with the Risk of Myocardial Infarction: A
            Prospective Study. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1691)
  AUTHORS   Piko P, Jenei T, Kosa Z, Sandor J, Kovacs N, Seres I, Paragh G and
            Adany R.
  TITLE     Association of CETP Gene Polymorphisms and Haplotypes with
            Cardiovascular Risk
  JOURNAL   Int J Mol Sci 24 (12), 10281 (2023)
   PUBMED   37373432
  REMARK    GeneRIF: Association of CETP Gene Polymorphisms and Haplotypes with
            Cardiovascular Risk. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1691)
  AUTHORS   Moors J, Krishnan M, Sumpter N, Takei R, Bixley M, Cadzow M, Major
            TJ, Phipps-Green A, Topless R, Merriman M, Rutledge M, Morgan B,
            Carlson JC, Zhang JZ, Russell EM, Sun G, Cheng H, Weeks DE, Naseri
            T, Reupena MS, Viali S, Tuitele J, Hawley NL, Deka R, McGarvey ST,
            de Zoysa J, Murphy R, Dalbeth N, Stamp L, Taumoepeau M, King F,
            Wilcox P, Rapana N, McCormick S, Minster RL, Merriman TR and Leask
            M.
  TITLE     A Polynesian-specific missense CETP variant alters the lipid profile
  JOURNAL   HGG Adv 4 (3), 100204 (2023)
   PUBMED   37250494
  REMARK    GeneRIF: A Polynesian-specific missense CETP variant alters the
            lipid profile. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1691)
  AUTHORS   Jiang XC, Moulin P, Quinet E, Goldberg IJ, Yacoub LK, Agellon LB,
            Compton D, Schnitzer-Polokoff R and Tall AR.
  TITLE     Mammalian adipose tissue and muscle are major sources of lipid
            transfer protein mRNA
  JOURNAL   J Biol Chem 266 (7), 4631-4639 (1991)
   PUBMED   1999438
REFERENCE   7  (bases 1 to 1691)
  AUTHORS   Inazu A, Brown ML, Hesler CB, Agellon LB, Koizumi J, Takata K,
            Maruhama Y, Mabuchi H and Tall AR.
  TITLE     Increased high-density lipoprotein levels caused by a common
            cholesteryl-ester transfer protein gene mutation
  JOURNAL   N Engl J Med 323 (18), 1234-1238 (1990)
   PUBMED   2215607
REFERENCE   8  (bases 1 to 1691)
  AUTHORS   Yamashita S, Hui DY, Sprecher DL, Matsuzawa Y, Sakai N, Tarui S,
            Kaplan D, Wetterau JR and Harmony JA.
  TITLE     Total deficiency of plasma cholesteryl ester transfer protein in
            subjects homozygous and heterozygous for the intron 14 splicing
            defect
  JOURNAL   Biochem Biophys Res Commun 170 (3), 1346-1351 (1990)
   PUBMED   2390095
REFERENCE   9  (bases 1 to 1691)
  AUTHORS   Agellon LB, Quinet EM, Gillette TG, Drayna DT, Brown ML and Tall AR.
  TITLE     Organization of the human cholesteryl ester transfer protein gene
  JOURNAL   Biochemistry 29 (6), 1372-1376 (1990)
   PUBMED   2334701
REFERENCE   10  (bases 1 to 1691)
  AUTHORS   Brown ML, Inazu A, Hesler CB, Agellon LB, Mann C, Whitlock ME,
            Marcel YL, Milne RW, Koizumi J, Mabuchi H et al.
  TITLE     Molecular basis of lipid transfer protein deficiency in a family
            with increased high-density lipoproteins
  JOURNAL   Nature 342 (6248), 448-451 (1989)
   PUBMED   2586614
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.198594.1,
            SRR5189664.89365.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000200676.8/ ENSP00000200676.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M30185.1, AA999853.1 and
            AC023825.8.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000078.2.
            Summary: The protein encoded by this gene is found in plasma, where
            it is involved in the transfer of cholesteryl ester from high
            density lipoprotein (HDL) to other lipoproteins. Defects in this
            gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Oct 2013].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1691
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q13"
     gene            1..1691
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /note="cholesteryl ester transfer protein"
                     /db_xref="GeneID:1071"
                     /db_xref="HGNC:HGNC:1869"
                     /db_xref="MIM:118470"
     CDS             31..1512
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; lipid transfer protein I; BPI fold containing family F;
                     cholesteryl ester transfer protein plasma"
                     /codon_start=1
                     /product="cholesteryl ester transfer protein isoform 1
                     precursor"
                     /protein_id="NP_000069.2"
                     /db_xref="CCDS:CCDS10772.1"
                     /db_xref="GeneID:1071"
                     /db_xref="HGNC:HGNC:1869"
                     /db_xref="MIM:118470"
                     /translation="MLAATVLTLALLGNAHACSKGTSHEAGIVCRITKPALLVLNHETA
                     KVIQTAFQRASYPDITGEKAMMLLGQVKYGLHNIQISHLSIASSQVELVEAKSIDVSIQ
                     NVSVVFKGTLKYGYTTAWWLGIDQSIDFEIDSAIDLQINTQLTCDSGRVRTDAPDCYLS
                     FHKLLLHLQGEREPGWIKQLFTNFISFTLKLVLKGQICKEINVISNIMADFVQTRAASI
                     LSDGDIGVDISLTGDPVITASYLESHHKGHFIYKNVSEDLPLPTFSPTLLGDSRMLYFW
                     FSERVFHSLAKVAFQDGRLMLSLMGDEFKAVLETWGFNTNQEIFQEVVGGFPSQAQVTV
                     HCLKMPKISCQNKGVVVNSSVMVKFLFPRPDQQHSVAYTFEEDIVTTVQASYSKKKLFL
                     SLLDFQITPKTVSNLTESSSESVQSFLQSMITAVGIPEVMSRLEVVFTALMNSKGVSLF
                     DIINPEIITRDGFLLLQMDFGFPEHLLVDFLQSLS"
     sig_peptide     31..81
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     82..1509
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /product="cholesteryl ester transfer protein isoform 1"
     misc_feature    343..345
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:19139490; propagated from
                     UniProtKB/Swiss-Prot (P11597.2); glycosylation site"
     misc_feature    799..801
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P11597.2); glycosylation site"
     misc_feature    1102..1104
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P11597.2); glycosylation site"
     misc_feature    1267..1269
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11597.2); glycosylation site"
     regulatory      1671..1676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /note="hexamer: ATTAAA"
     polyA_site      1691
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /note="major polyA site"
ORIGIN
        1 gggccactta cacaccactg cctgataacc atgctggctg ccacagtcct gaccctggcc
       61 ctgctgggca atgcccatgc ctgctccaaa ggcacctcgc acgaggcagg catcgtgtgc
      121 cgcatcacca agcctgccct cctggtgttg aaccacgaga ctgccaaggt gatccagacc
      181 gccttccagc gagccagcta cccagatatc acgggcgaga aggccatgat gctccttggc
      241 caagtcaagt atgggttgca caacatccag atcagccact tgtccatcgc cagcagccag
      301 gtggagctgg tggaagccaa gtccattgat gtctccattc agaacgtgtc tgtggtcttc
      361 aaggggaccc tgaagtatgg ctacaccact gcctggtggc tgggtattga tcagtccatt
      421 gacttcgaga tcgactctgc cattgacctc cagatcaaca cacagctgac ctgtgactct
      481 ggtagagtgc ggaccgatgc ccctgactgc tacctgtctt tccataagct gctcctgcat
      541 ctccaagggg agcgagagcc tgggtggatc aagcagctgt tcacaaattt catctccttc
      601 accctgaagc tggtcctgaa gggacagatc tgcaaagaga tcaacgtcat ctctaacatc
      661 atggccgatt ttgtccagac aagggctgcc agcatccttt cagatggaga cattggggtg
      721 gacatttccc tgacaggtga tcccgtcatc acagcctcct acctggagtc ccatcacaag
      781 ggtcatttca tctacaagaa tgtctcagag gacctccccc tccccacctt ctcgcccaca
      841 ctgctggggg actcccgcat gctgtacttc tggttctctg agcgagtctt ccactcgctg
      901 gccaaggtag ctttccagga tggccgcctc atgctcagcc tgatgggaga cgagttcaag
      961 gcagtgctgg agacctgggg cttcaacacc aaccaggaaa tcttccaaga ggttgtcggc
     1021 ggcttcccca gccaggccca agtcaccgtc cactgcctca agatgcccaa gatctcctgc
     1081 caaaacaagg gagtcgtggt caattcttca gtgatggtga aattcctctt tccacgccca
     1141 gaccagcaac attctgtagc ttacacattt gaagaggata tcgtgactac cgtccaggcc
     1201 tcctattcta agaaaaagct cttcttaagc ctcttggatt tccagattac accaaagact
     1261 gtttccaact tgactgagag cagctccgag tccgtccaga gcttcctgca gtcaatgatc
     1321 accgctgtgg gcatccctga ggtcatgtct cggctcgagg tagtgtttac agccctcatg
     1381 aacagcaaag gcgtgagcct cttcgacatc atcaaccctg agattatcac tcgagatggc
     1441 ttcctgctgc tgcagatgga ctttggcttc cctgagcacc tgctggtgga tttcctccag
     1501 agcttgagct agaagtctcc aaggaggtcg ggatggggct tgtagcagaa ggcaagcacc
     1561 aggctcacag ctggaaccct ggtgtctcct ccagcgtggt ggaagttggg ttaggagtac
     1621 ggagatggag attggctccc aactcctccc tatcctaaag gcccactggc attaaagtgc
     1681 tgtatccaag a
//
LOCUS       NM_000079               1984 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens cholinergic receptor nicotinic alpha 1 subunit
            (CHRNA1), transcript variant 2, mRNA.
ACCESSION   NM_000079
VERSION     NM_000079.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1984)
  AUTHORS   Rodriguez Cruz PM, Ravenscroft G, Natera D, Carr A, Manzur A, Liu
            WW, Vella NR, Jerico I, Gonzalez-Quereda L, Gallano P, Montalto SA,
            Davis MR, Lamont PJ, Laing NG, Bourque P, Nascimento A, Muntoni F,
            Polavarapu K, Lochmuller H, Palace J and Beeson D.
  TITLE     A novel phenotype of AChR-deficiency syndrome with predominant
            facial and distal weakness resulting from the inclusion of an
            evolutionary alternatively-spliced exon in CHRNA1
  JOURNAL   Neuromuscul Disord 33 (2), 161-168 (2023)
   PUBMED   36634413
REFERENCE   2  (bases 1 to 1984)
  AUTHORS   Lin JB, Kang MQ, Huang LP, Zhuo Y, Li X and Lai FC.
  TITLE     CHRNA1 promotes the pathogenesis of primary focal hyperhidrosis
  JOURNAL   Mol Cell Neurosci 111, 103598 (2021)
   PUBMED   33476802
  REMARK    GeneRIF: CHRNA1 promotes the pathogenesis of primary focal
            hyperhidrosis.
REFERENCE   3  (bases 1 to 1984)
  AUTHORS   Kudryavtsev D, Isaeva A, Barkova D, Spirova E, Mukhutdinova R,
            Kasheverov I and Tsetlin V.
  TITLE     Point Mutations of Nicotinic Receptor alpha1 Subunit Reveal New
            Molecular Features of G153S Slow-Channel Myasthenia
  JOURNAL   Molecules 26 (5), 1278 (2021)
   PUBMED   33652901
  REMARK    GeneRIF: Point Mutations of Nicotinic Receptor alpha1 Subunit Reveal
            New Molecular Features of G153S Slow-Channel Myasthenia. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 1984)
  AUTHORS   Uzawa A, Ozawa Y, Yasuda M, Oda F, Kojima Y, Kawaguchi N, Kanai T,
            Himuro K and Kuwabara S.
  TITLE     Increased serum acetylcholine receptor alpha1 subunit protein in
            anti-acetylcholine receptor antibody-positive myasthenia gravis
  JOURNAL   J Neuroimmunol 339, 577125 (2020)
   PUBMED   31855720
  REMARK    GeneRIF: Serum AChR alpha1 subunit protein concentrations were
            higher in patients with ant-AChR antibody-positive myasthenia gravis
            than those in controls.
REFERENCE   5  (bases 1 to 1984)
  AUTHORS   Wang M, Liu D, Schwender H, Wang H, Wang P, Zhou Z, Li J, Wu T, Zhu
            H and Beaty TH.
  TITLE     Evaluating the effect of nicotinic cholinergic receptor genes on the
            risk of nonsyndromic cleft lip with or without cleft palate
  JOURNAL   Oral Dis 24 (6), 1068-1072 (2018)
   PUBMED   29688589
  REMARK    GeneRIF: In our analysis, we found one pair of SNPs in CHRNA1 and
            CHRNA7, plus one pair of SNPs in CHRNA2 and CHRNA3 reached corrected
            significance in tests for GxG interaction. Our study suggested
            evidence of interactions between CHRNs in controlling the risk of
            NSCL/P.
REFERENCE   6  (bases 1 to 1984)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301347
REFERENCE   7  (bases 1 to 1984)
  AUTHORS   Yu XM and Hall ZW.
  TITLE     Extracellular domains mediating epsilon subunit interactions of
            muscle acetylcholine receptor
  JOURNAL   Nature 352 (6330), 64-67 (1991)
   PUBMED   1712080
REFERENCE   8  (bases 1 to 1984)
  AUTHORS   Beeson D, Jeremiah S, West LF, Povey S and Newsom-Davis J.
  TITLE     Assignment of the human nicotinic acetylcholine receptor genes: the
            alpha and delta subunit genes to chromosome 2 and the beta subunit
            gene to chromosome 17
  JOURNAL   Ann Hum Genet 54 (3), 199-208 (1990)
   PUBMED   2221824
REFERENCE   9  (bases 1 to 1984)
  AUTHORS   Beeson D, Morris A, Vincent A and Newsom-Davis J.
  TITLE     The human muscle nicotinic acetylcholine receptor alpha-subunit
            exist as two isoforms: a novel exon
  JOURNAL   EMBO J 9 (7), 2101-2106 (1990)
   PUBMED   1694127
REFERENCE   10  (bases 1 to 1984)
  AUTHORS   Hohlfeld R, Toyka KV, Miner LL, Walgrave SL and Conti-Tronconi BM.
  TITLE     Amphipathic segment of the nicotinic receptor alpha subunit contains
            epitopes recognized by T lymphocytes in myasthenia gravis
  JOURNAL   J Clin Invest 81 (3), 657-660 (1988)
   PUBMED   2449458
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK315312.1, Y00762.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2158800,
            SAMEA2162946 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000348749.9/ ENSP00000261008.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315312.1, Y00762.1 and
            BC043196.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 31, 2019 this sequence version replaced NM_000079.3.
            Summary: The muscle acetylcholine receptor consiststs of 5 subunits
            of 4 different types: 2 alpha subunits and 1 each of the beta,
            gamma, and delta subunits. This gene encodes an alpha subunit that
            plays a role in acetlycholine binding/channel gating. Alternatively
            spliced transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Nov 2012].
            Transcript Variant: This variant (2) lacks an in-frame segment of
            the coding region, compared to variant 1. It encodes a shorter
            isoform (b), that is missing an internal segment compared to
            isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1984
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..1984
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="cholinergic receptor nicotinic alpha 1 subunit"
                     /db_xref="GeneID:1134"
                     /db_xref="HGNC:HGNC:1955"
                     /db_xref="MIM:100690"
     misc_feature    73..75
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="upstream in-frame stop codon"
     CDS             79..1452
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="isoform b precursor is encoded by transcript variant
                     2; cholinergic receptor, nicotinic, alpha polypeptide 1
                     (muscle); cholinergic receptor, nicotinic alpha 1;
                     nicotinic cholinergic receptor alpha 1; acetylcholine
                     receptor subunit alpha; nicotinic acetylcholine receptor
                     alpha subunit; muscle nicotinic acetylcholine receptor;
                     acetylcholine receptor, nicotinic, alpha 1 (muscle);
                     cholinergic receptor, nicotinic, alpha 1 (muscle)"
                     /codon_start=1
                     /product="acetylcholine receptor subunit alpha isoform b
                     precursor"
                     /protein_id="NP_000070.1"
                     /db_xref="CCDS:CCDS2261.1"
                     /db_xref="GeneID:1134"
                     /db_xref="HGNC:HGNC:1955"
                     /db_xref="MIM:100690"
                     /translation="MEPWPLLLLFSLCSAGLVLGSEHETRLVAKLFKDYSSVVRPVEDH
                     RQVVEVTVGLQLIQLINVDEVNQIVTTNVRLKQQWVDYNLKWNPDDYGGVKKIHIPSEK
                     IWRPDLVLYNNADGDFAIVKFTKVLLQYTGHITWTPPAIFKSYCEIIVTHFPFDEQNCS
                     MKLGTWTYDGSVVAINPESDQPDLSNFMESGEWVIKESRGWKHSVTYSCCPDTPYLDIT
                     YHFVMQRLPLYFIVNVIIPCLLFSFLTGLVFYLPTDSGEKMTLSISVLLSLTVFLLVIV
                     ELIPSTSSAVPLIGKYMLFTMVFVIASIIITVIVINTHHRSPSTHVMPNWVRKVFIDTI
                     PNIMFFSTMKRPSREKQDKKIFTEDIDISDISGKPGPPPMGFHSPLIKHPEVKSAIEGI
                     KYIAETMKSDQESNNAAAEWKYVAMVMDHILLGVFMLVCIIGTLAVFAGRLIELNQQG"
     sig_peptide     79..138
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     139..1449
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /product="acetylcholine receptor subunit alpha isoform b"
     misc_feature    559..561
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P02708.3); glycosylation site"
     misc_feature    775..837
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="propagated from UniProtKB/Swiss-Prot (P02708.3);
                     transmembrane region"
     misc_feature    871..933
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="propagated from UniProtKB/Swiss-Prot (P02708.3);
                     transmembrane region"
     misc_feature    967..1029
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="propagated from UniProtKB/Swiss-Prot (P02708.3);
                     transmembrane region"
     misc_feature    1360..1422
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="propagated from UniProtKB/Swiss-Prot (P02708.3);
                     transmembrane region"
     regulatory      1955..1960
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="hexamer: AATAAA"
     regulatory      1960..1965
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="hexamer: ACTAAA"
     polyA_site      1977
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="major polyA site"
     polyA_site      1984
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="major polyA site"
ORIGIN
        1 agacaagcac ccagccagag tgccagtgag aagcacaggc caccactctg ccctggtcca
       61 cacaagctcc ggtagcccat ggagccctgg cctctcctcc tgctctttag cctttgctca
      121 gctggcctcg tcctgggctc cgaacatgag acccgtctgg tggcaaagct atttaaagac
      181 tacagcagcg tggtgcggcc agtggaagac caccgccagg tcgtggaggt caccgtgggc
      241 ctgcagctga tacagctcat caatgtggat gaagtaaatc agatcgtgac aaccaatgtg
      301 cgtctgaaac agcaatgggt ggattacaac ctaaaatgga atccagatga ctatggcggt
      361 gtgaaaaaaa ttcacattcc ttcagaaaag atctggcgcc cagaccttgt tctctataac
      421 aatgcagatg gtgactttgc tattgtcaag ttcaccaaag tgctcctgca gtacactggc
      481 cacatcacgt ggacacctcc agccatcttt aaaagctact gtgagatcat cgtcacccac
      541 tttccctttg atgaacagaa ctgcagcatg aagctgggca cctggaccta cgacggctct
      601 gtcgtggcca tcaacccgga aagcgaccag ccagacctga gcaacttcat ggagagcggg
      661 gagtgggtga tcaaggagtc ccggggctgg aagcactccg tgacctattc ctgctgcccc
      721 gacaccccct acctggacat cacctaccac ttcgtcatgc agcgcctgcc cctctacttc
      781 atcgtcaacg tcatcatccc ctgcctgctc ttctccttct taactggcct ggtattctac
      841 ctgcccacag actcagggga gaagatgact ctgagcatct ctgtcttact gtctttgact
      901 gtgttccttc tggtcatcgt ggagctgatc ccctccacgt ccagtgctgt gcccttgatt
      961 ggaaaataca tgctgttcac catggtgttc gtcattgcct ccatcatcat cactgtcatc
     1021 gtcatcaaca cacaccaccg ctcacccagc acccatgtca tgcccaactg ggtgcggaag
     1081 gtttttatcg acactatccc aaatatcatg tttttctcca caatgaaaag accatccaga
     1141 gaaaagcaag acaaaaagat ttttacagaa gacattgata tctctgacat ttctggaaag
     1201 ccagggcctc cacccatggg cttccactct cccctgatca aacaccccga ggtgaaaagt
     1261 gccatcgagg gcatcaagta catcgcagag accatgaagt cagaccagga gtctaacaat
     1321 gcggcggcag agtggaagta cgttgcaatg gtgatggacc acatactcct cggagtcttc
     1381 atgcttgttt gcatcatcgg aaccctagcc gtgtttgcag gtcgactcat tgaattaaat
     1441 cagcaaggat gagcagaaaa tgagctgagc ttagctctgc cctggaacct accagagcag
     1501 agaagggcag gagaggaaga tttgtctact tgctccactc gcacttatca aacgtgttat
     1561 attccatact tattattgat gataagattt acctttatgt aagtttatgg ccttgaagtg
     1621 ttttcatatt gcttctccct ttagttctgc tgtctccctg aagagtgaac cctctttagt
     1681 aaatgaaact aatcactaaa aaaagtgttc atttccagtg tctggaagag tttttgccag
     1741 gataaccgag gttttctgtt gcattgtcat tgctgttata tttatatatt tacttatttt
     1801 gtctaaccac gagaccacta gggagttgct gatgttctaa atgaagtgta ttctttgctt
     1861 aagagtcagt tttgtaccta ctaagaaaac cccatctacc agtcctaaag agataaggca
     1921 tttgatttgg agagagagga agcagtagaa atgaaataaa ctaaaatgca aactgcatca
     1981 aaaa
//
LOCUS       NM_000080               2482 bp    mRNA    linear   PRI 19-MAR-2023
DEFINITION  Homo sapiens cholinergic receptor nicotinic epsilon subunit (CHRNE),
            mRNA.
ACCESSION   NM_000080
VERSION     NM_000080.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2482)
  AUTHORS   Angelini C, Lispi L, Salvoro C, Mostacciuolo ML and Vazza G.
  TITLE     Clinical and genetic characterization of an Italian family with
            slow-channel syndrome
  JOURNAL   Neurol Sci 40 (3), 503-507 (2019)
   PUBMED   30542963
  REMARK    GeneRIF: This study report a family with progressive proximal and
            distal weakness in which an accurate electrophysiological and CHRNE
            mutation led to a final diagnosis of congenital myasthenic
            syndromes.
REFERENCE   2  (bases 1 to 2482)
  AUTHORS   Estephan EP, Sobreira CFDR, Dos Santos ACJ, Tomaselli PJ, Marques W
            Jr, Ortega RPM, Costa MCM, da Silva AMS, Mendonca RH, Caldas VM,
            Zambon AA, Abath Neto O, Marchiori PE, Heise CO, Reed UC, Azuma Y,
            Topf A, Lochmuller H and Zanoteli E.
  TITLE     A common CHRNE mutation in Brazilian patients with congenital
            myasthenic syndrome
  JOURNAL   J Neurol 265 (3), 708-713 (2018)
   PUBMED   29383513
  REMARK    GeneRIF: Study found a pretest probability of CHRNE c.130dupG
            mutation of 31.9% in at least one allele of CMS patients, and when
            considering only homozygous patients the percentage is still high
            (26.4%); percentages notably increase ifonly patients with impaired
            eye movement and improvement of symptoms with pyridostigmine are
            considered.
REFERENCE   3  (bases 1 to 2482)
  AUTHORS   Shen XM, Brengman JM, Shen S, Durmus H, Preethish-Kumar V, Yuceyar
            N, Vengalil S, Nalini A, Deymeer F, Sine SM and Engel AG.
  TITLE     Mutations causing congenital myasthenia reveal principal coupling
            pathway in the acetylcholine receptor epsilon-subunit
  JOURNAL   JCI Insight 3 (2), 97826 (2018)
   PUBMED   29367459
  REMARK    GeneRIF: Study identified 2 potentially novel homozygous mutations
            in the AChR epsilon-subunit, epsilonR218W at a position equivalent
            to alphaR209, and E184K at a position equivalent to alphaE175, in 3
            unrelated congenital myasthenic patients. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 2482)
  AUTHORS   Aharoni S, Sadeh M, Shapira Y, Edvardson S, Daana M, Dor-Wollman T,
            Mimouni-Bloch A, Halevy A, Cohen R, Sagie L, Argov Z, Rabie M,
            Spiegel R, Chervinsky I, Orenstein N, Engel AG and Nevo Y.
  TITLE     Congenital myasthenic syndrome in Israel: Genetic and clinical
            characterization
  JOURNAL   Neuromuscul Disord 27 (2), 136-140 (2017)
   PUBMED   28024842
  REMARK    GeneRIF: Specific mutations in COLQ, RAPSN, and CHRNE occur in
            specific ethnic populations in Israel and should be taken into
            account when the diagnosis of congenital myasthenic syndrome is
            suspected..
REFERENCE   5  (bases 1 to 2482)
  AUTHORS   Shen XM, Okuno T, Milone M, Otsuka K, Takahashi K, Komaki H, Giles
            E, Ohno K and Engel AG.
  TITLE     Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring
            in the Channel Pore of Muscle AChR is Optimized for Stabilizing
            Channel Gating
  JOURNAL   Hum Mutat 37 (10), 1051-1059 (2016)
   PUBMED   27375219
  REMARK    GeneRIF: Study traced the cause of congenital myasthenia syndrome in
            unrelated patients with dominant missense mutations in the M2 domain
            of AChR. A valine residue is replaced by a smaller alanine either in
            the epsilon subunit or an equivalent position in the beta one. Also,
            each valine in the valine ring was found to contribute to channel
            kinetics equally, and the valine ring has bee optimized during
            evolution to govern channe...
REFERENCE   6  (bases 1 to 2482)
  AUTHORS   Gomez CM and Gammack JT.
  TITLE     A leucine-to-phenylalanine substitution in the acetylcholine
            receptor ion channel in a family with the slow-channel syndrome
  JOURNAL   Neurology 45 (5), 982-985 (1995)
   PUBMED   7538206
REFERENCE   7  (bases 1 to 2482)
  AUTHORS   Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, Sine SM and
            Engel AG.
  TITLE     Congenital myasthenic syndrome caused by prolonged acetylcholine
            receptor channel openings due to a mutation in the M2 domain of the
            epsilon subunit
  JOURNAL   Proc Natl Acad Sci U S A 92 (3), 758-762 (1995)
   PUBMED   7531341
REFERENCE   8  (bases 1 to 2482)
  AUTHORS   Beeson D, Brydson M, Betty M, Jeremiah S, Povey S, Vincent A and
            Newsom-Davis J.
  TITLE     Primary structure of the human muscle acetylcholine receptor. cDNA
            cloning of the gamma and epsilon subunits
  JOURNAL   Eur J Biochem 215 (2), 229-238 (1993)
   PUBMED   7688301
REFERENCE   9  (bases 1 to 2482)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301347
REFERENCE   10  (bases 1 to 2482)
  AUTHORS   Yu XM and Hall ZW.
  TITLE     Extracellular domains mediating epsilon subunit interactions of
            muscle acetylcholine receptor
  JOURNAL   Nature 352 (6330), 64-67 (1991)
   PUBMED   1712080
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X66403.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2159607
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000649488.2/ ENSP00000497829.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC233723.2 and X66403.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 24, 2018 this sequence version replaced NM_000080.3.
            Summary: Acetylcholine receptors at mature mammalian neuromuscular
            junctions are pentameric protein complexes composed of four
            subunits in the ratio of two alpha subunits to one beta, one
            epsilon, and one delta subunit. The acetylcholine receptor changes
            subunit composition shortly after birth when the epsilon subunit
            replaces the gamma subunit seen in embryonic receptors. Mutations
            in the epsilon subunit are associated with congenital myasthenic
            syndrome. [provided by RefSeq, Sep 2009].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2482
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..2482
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /note="cholinergic receptor nicotinic epsilon subunit"
                     /db_xref="GeneID:1145"
                     /db_xref="HGNC:HGNC:1966"
                     /db_xref="MIM:100725"
     misc_feature    18..20
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /note="upstream in-frame stop codon"
     CDS             36..1517
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /note="cholinergic receptor, nicotinic, epsilon
                     polypeptide; acetylcholine receptor subunit epsilon; AchR
                     epsilon subunit; cholinergic receptor, nicotinic epsilon;
                     acetylcholine receptor, nicotinic, epsilon (muscle);
                     cholinergic receptor, nicotinic, epsilon (muscle);
                     myasthenia gravis, familial infantile, 1"
                     /codon_start=1
                     /product="acetylcholine receptor subunit epsilon precursor"
                     /protein_id="NP_000071.1"
                     /db_xref="CCDS:CCDS11058.1"
                     /db_xref="GeneID:1145"
                     /db_xref="HGNC:HGNC:1966"
                     /db_xref="MIM:100725"
                     /translation="MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVREP
                     EDTVTISLKVTLTNLISLNEKEETLTTSVWIGIDWQDYRLNYSKDDFGGIETLRVPSEL
                     VWLPEIVLENNIDGQFGVAYDANVLVYEGGSVTWLPPAIYRSVCAVEVTYFPFDWQNCS
                     LIFRSQTYNAEEVEFTFAVDNDGKTINKIDIDTEAYTENGEWAIDFCPGVIRRHHGGAT
                     DGPGETDVIYSLIIRRKPLFYVINIIVPCVLISGLVLLAYFLPAQAGGQKCTVSINVLL
                     AQTVFLFLIAQKIPETSLSVPLLGRFLIFVMVVATLIVMNCVIVLNVSQRTPTTHAMSP
                     RLRHVLLELLPRLLGSPPPPEAPRAASPPRRASSVGLLLRAEELILKKPRSELVFEGQR
                     HRQGTWTAAFCQSLGAAAPEVRCCVDAVNFVAESTRDQEATGEEVSDWVRMGNALDNIC
                     FWAALVLFSVGSSLIFLGAYFNRVPDLPYAPCIQP"
     sig_peptide     36..95
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     96..1514
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /product="Acetylcholine receptor subunit epsilon.
                     /id=PRO_0000000329"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04844.2)"
     misc_feature    291..293
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q04844.2); glycosylation site"
     misc_feature    516..518
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q04844.2); glycosylation site"
     misc_feature    753..827
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04844.2);
                     transmembrane region"
     misc_feature    852..908
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04844.2);
                     transmembrane region"
     misc_feature    954..1019
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04844.2);
                     transmembrane region"
     misc_feature    1404..1475
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04844.2);
                     transmembrane region"
     polyA_site      2231
                     /gene="CHRNE"
                     /gene_synonym="ACHRE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A;
                     CMS4B; CMS4C; FCCMS; FIM1; FIMG; FIMG1; MGI; SCCMS"
ORIGIN
        1 agagctcaga ataaccctga gaaccacgca gcaggatggc aagggctccg cttggggtcc
       61 tgctcctctt ggggcttctc ggcaggggtg tggggaagaa cgaggaactg cgtctttatc
      121 accatctctt caacaactat gacccaggaa gccggccagt gcgggagcct gaggatactg
      181 tcaccatcag cctcaaggtc accctgacga atctcatctc actgaatgaa aaagaggaga
      241 ctctcaccac tagcgtctgg attggaatcg attggcagga ttaccgactc aactacagca
      301 aggacgactt tgggggtata gaaaccctgc gagtcccttc agaactcgtg tggctgccag
      361 agattgtgct ggaaaacaat attgatggcc agttcggagt ggcctacgac gccaacgtgc
      421 tcgtctacga gggcggctcc gtgacgtggc tgcctccggc catctaccgc agcgtctgcg
      481 cagtggaggt cacctacttc cccttcgatt ggcagaactg ttcgcttatt ttccgctctc
      541 agacgtacaa tgccgaagag gtggagttca cttttgccgt agacaacgac ggcaagacca
      601 tcaacaagat cgacatcgac acagaggcct atactgagaa cggcgagtgg gccatcgact
      661 tctgcccggg ggtgatccgc cgccaccacg gtggcgccac cgacggccca ggggagactg
      721 acgtcatcta ctcgctcatc atccgccgga agccgctctt ctacgtcatt aacatcatcg
      781 tgccctgtgt gctcatctcg ggcctggtgc tgctcgccta cttcctgccg gcgcaggccg
      841 gcggccagaa atgcacggtc tccatcaacg tcctgctcgc ccagaccgtc ttcttgttcc
      901 tcattgccca gaaaatccca gagacttctc tgagcgtgcc gctcctgggc aggttcctta
      961 ttttcgtcat ggtggtcgcc acgctcattg tcatgaattg cgtcatcgtg ctcaacgtgt
     1021 cccagcggac gcccaccacc cacgccatgt ccccgcggct gcgccacgtt ctcctggagc
     1081 tgctgccgcg cctcctgggc tccccgccgc cgcccgaggc cccccgggcc gcctcgcccc
     1141 caaggcgggc gtcgtcggtg ggcttattgc tccgcgcgga ggagctgata ctgaaaaagc
     1201 cacggagcga gctcgtgttt gaggggcaga ggcaccggca ggggacctgg acggctgcct
     1261 tctgccagag cctgggcgcc gccgcccccg aggtccgctg ctgtgtggat gccgtgaact
     1321 tcgtggccga gagcacgaga gatcaggagg ccaccggcga ggaagtgtcc gactgggtgc
     1381 gcatggggaa tgcccttgac aacatctgct tctgggccgc tctggtgctc ttcagcgtgg
     1441 gctccagcct catcttcctc ggggcctact tcaaccgagt gcctgatctc ccctacgcgc
     1501 cgtgtatcca gccttagctc gcaccgactt caatttccca cccatctcca gtaggaaatt
     1561 gattttgaaa aagtaggctg ccgccaccac ggcattatga tcccttcccc ctgctgatca
     1621 atctgcagtt tgtgaacttc acaagaatgg tgtgtgcccg ttccctggcg tgtgtaggcc
     1681 tggccgcagt ccaggggtca gcaggaggaa agggttcaca taggctctca ggtgccagtc
     1741 ttccagaaag caaggactgc ccttcattca gccttgctga cctcccagcc tttctaaggc
     1801 tcagccccac gggactctgg tggctgccag cttgtgagct atctatctat attcatttca
     1861 tagccaaaca ggagacccct ttgcaggact tgcacacagg gaggctgtag ccaggaaacc
     1921 ctcttcttcc ctggtctggc tctgctggag cgggtgggaa ccaaacacct tcagtgctgg
     1981 tggccctcag gcccacaggt ttaaggctga ggctgccctg acccttccac agtcatttct
     2041 tctaggtttt cttggcccag cactgcccat cccaccccat gaggctcact cattgcagat
     2101 cccagcccac cctgcccctt tcttccccac cctggaggct ctctctgcct agtctacagt
     2161 actgacagaa agcaaggaca tgcggcctgc atggtgggag ctggttgaat tgtctttatt
     2221 aacaaacagg atatccaagg ccactacatt gaggaggggt ggggggggag ggagaagggt
     2281 tacttgctgc tcacactata tacagatgca agcaaggggc gtggagagtg agggctccct
     2341 gctccctccc tccaccgggg aagggcatgg gctagaagag gagagggggg tcgggaatgg
     2401 ggggaatgtt ttggctggcg gggtcccccc tccattccct ggagtttggg ggaaggggaa
     2461 tcattaaagt gctttcagaa aa
//
LOCUS       NM_000081              13466 bp    mRNA    linear   PRI 17-MAR-2023
DEFINITION  Homo sapiens lysosomal trafficking regulator (LYST), transcript
            variant 1, mRNA.
ACCESSION   NM_000081
VERSION     NM_000081.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 13466)
  AUTHORS   Serra-Vinardell J, Sandler MB, De Pace R, Manzella-Lapeira J,
            Cougnoux A, Keyvanfar K, Introne WJ, Brzostowski JA, Ward ME, Gahl
            WA, Sharma P and Malicdan MCV.
  TITLE     LYST deficiency impairs autophagic lysosome reformation in neurons
            and alters lysosome number and size
  JOURNAL   Cell Mol Life Sci 80 (2), 53 (2023)
   PUBMED   36707427
  REMARK    GeneRIF: LYST deficiency impairs autophagic lysosome reformation in
            neurons and alters lysosome number and size. Erratum:[Cell Mol Life
            Sci. 2023 Mar 4;80(3):81. PMID: 36869920] Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 13466)
  AUTHORS   Koh K, Tsuchiya M, Ishiura H, Shimazaki H, Nakamura T, Hara H,
            Suzuyama K, Takahashi M, Tsuji S and Takiyama Y.
  CONSRTM   Japan Spastic Paraplegia Research Consortium
  TITLE     Chediak-Higashi syndrome presenting as a hereditary spastic
            paraplegia
  JOURNAL   J Hum Genet 67 (2), 119-121 (2022)
   PUBMED   34483340
  REMARK    GeneRIF: Chediak-Higashi syndrome presenting as a hereditary spastic
            paraplegia.
REFERENCE   3  (bases 1 to 13466)
  AUTHORS   Oh S, Niwa A, Nagahashi A, Asaka I, Nakahata T and Saito MK.
  TITLE     iPS cells from Chediak-Higashi syndrome patients recapitulate the
            giant granules in myeloid cells
  JOURNAL   Pediatr Int 64 (1), e15390 (2022)
   PUBMED   36259166
REFERENCE   4  (bases 1 to 13466)
  AUTHORS   Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, Barbosa E,
            Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C,
            Kreuz F, Levin A, Miyajima H, Regueiro JR, Russo C, Uyama E,
            Vierimaa O and Spritz RA.
  TITLE     Apparent genotype-phenotype correlation in childhood, adolescent,
            and adult Chediak-Higashi syndrome
  JOURNAL   Am J Med Genet 108 (1), 16-22 (2002)
   PUBMED   11857544
  REMARK    GeneRIF: Childhood, adolescent, and adult forms of Chediak-Higashi
            syndrome correlate with different genotypes.
REFERENCE   5  (bases 1 to 13466)
  AUTHORS   Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD,
            Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace
            MR, Brandt SJ, de Saint Basile G and Kingsmore SF.
  TITLE     Identification of mutations in two major mRNA isoforms of the
            Chediak-Higashi syndrome gene in human and mouse
  JOURNAL   Hum Mol Genet 6 (7), 1091-1098 (1997)
   PUBMED   9215680
REFERENCE   6  (bases 1 to 13466)
  AUTHORS   Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, McGrail
            SH, Dussault BJ Jr, Perou CM, Boissy RE, Duyk GM, Spritz RA and
            Moore KJ.
  TITLE     Identification and mutation analysis of the complete gene for
            Chediak-Higashi syndrome
  JOURNAL   Nat Genet 14 (3), 307-311 (1996)
   PUBMED   8896560
REFERENCE   7  (bases 1 to 13466)
  AUTHORS   Barbosa MD, Nguyen QA, Tchernev VT, Ashley JA, Detter JC, Blaydes
            SM, Brandt SJ, Chotai D, Hodgman C, Solari RC, Lovett M and
            Kingsmore SF.
  TITLE     Identification of the homologous beige and Chediak-Higashi syndrome
            genes
  JOURNAL   Nature 382 (6588), 262-265 (1996)
   PUBMED   8717042
  REMARK    Erratum:[Nature 1997 Jan 2;385(6611):97]
REFERENCE   8  (bases 1 to 13466)
  AUTHORS   Toro,C., Nicoli,E.R., Malicdan,M.C., Adams,D.R. and Introne,W.J.
  TITLE     Chediak-Higashi Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301751
REFERENCE   9  (bases 1 to 13466)
  AUTHORS   Jenkins NA, Justice MJ, Gilbert DJ, Chu ML and Copeland NG.
  TITLE     Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome
            13 linked to beige (bg) and identifies a new region of homology
            between mouse and human chromosomes
  JOURNAL   Genomics 9 (2), 401-403 (1991)
   PUBMED   1672300
REFERENCE   10  (bases 1 to 13466)
  AUTHORS   Merino,F., Amesty,C., Henle,W., Layrisse,Z., Bianco,N. and
            Ramirez-Duque,P.
  TITLE     Chediak-Higashi syndrome: immunological responses to Epstein-Barr
            virus studies in gene heterozygotes
  JOURNAL   J Clin Immunol 6 (3), 242-248 (1986)
   PUBMED   3013924
COMMENT     ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000389793.7/ ENSP00000374443.2
            RefSeq Select criteria    :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U67615.1, BI031463.1,
            BX649113.1 and AA486745.1.
            On Aug 31, 2019 this sequence version replaced NM_000081.3.
            Summary: This gene encodes a protein that regulates intracellular
            protein trafficking in endosomes, and may be involved in
            pigmentation. Mutations in this gene are associated with
            Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative
            splicing results in multiple transcript variants, though the
            full-length nature of some of these variants has not been
            determined. [provided by RefSeq, Apr 2013].
            Transcript Variant: This variant (1) encodes the functional
            protein. Variants 1 and 3 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..13466
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.3"
     gene            1..13466
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="lysosomal trafficking regulator"
                     /db_xref="GeneID:1130"
                     /db_xref="HGNC:HGNC:1968"
                     /db_xref="MIM:606897"
     misc_feature    120..122
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="upstream in-frame stop codon"
     CDS             162..11567
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="Chediak-Higashi syndrome 1; beige homolog"
                     /codon_start=1
                     /product="lysosomal-trafficking regulator"
                     /protein_id="NP_000072.2"
                     /db_xref="CCDS:CCDS31062.1"
                     /db_xref="GeneID:1130"
                     /db_xref="HGNC:HGNC:1968"
                     /db_xref="MIM:606897"
                     /translation="MSTDSNSLAREFLTDVNRLCNAVVQRVEAREEEEEETHMATLGQY
                     LVHGRGFLLLTKLNSIIDQALTCREELLTLLLSLLPLVWKIPVQEEKATDFNLPLSADI
                     ILTKEKNSSSQRSTQEKLHLEGSALSSQVSAKVNVFRKSRRQRKITHRYSVRDARKTQL
                     STSDSEANSDEKGIAMNKHRRPHLLHHFLTSFPKQDHPKAKLDRLATKEQTPPDAMALE
                     NSREIIPRQGSNTDILSEPAALSVISNMNNSPFDLCHVLLSLLEKVCKFDVTLNHNSPL
                     AASVVPTLTEFLAGFGDCCSLSDNLESRVVSAGWTEEPVALIQRMLFRTVLHLLSVDVS
                     TAEMMPENLRKNLTELLRAALKIRICLEKQPDPFAPRQKKTLQEVQEDFVFSKYRHRAL
                     LLPELLEGVLQILICCLQSAASNPFYFSQAMDLVQEFIQHHGFNLFETAVLQMEWLVLR
                     DGVPPEASEHLKALINSVMKIMSTVKKVKSEQLHHSMCTRKRHRRCEYSHFMHHHRDLS
                     GLLVSAFKNQVSKNPFEETADGDVYYPERCCCIAVCAHQCLRLLQQASLSSTCVQILSG
                     VHNIGICCCMDPKSVIIPLLHAFKLPALKNFQQHILNILNKLILDQLGGAEISPKIKKA
                     ACNICTVDSDQLAQLEETLQGNLCDAELSSSLSSPSYRFQGILPSSGSEDLLWKWDALK
                     AYQNFVFEEDRLHSIQIANHICNLIQKGNIVVQWKLYNYIFNPVLQRGVELAHHCQHLS
                     VTSAQSHVCSHHNQCLPQDVLQIYVKTLPILLKSRVIRDLFLSCNGVSQIIELNCLNGI
                     RSHSLKAFETLIISLGEQQKDASVPDIDGIDIEQKELSSVHVGTSFHHQQAYSDSPQSL
                     SKFYAGLKEAYPKRRKTVNQDVHINTINLFLCVAFLCVSKEAESDRESANDSEDTSGYD
                     STASEPLSHMLPCISLESLVLPSPEHMHQAADIWSMCRWIYMLSSVFQKQFYRLGGFRV
                     CHKLIFMIIQKLFRSHKEEQGKKEGDTSVNENQDLNRISQPKRTMKEDLLSLAIKSDPI
                     PSELGSLKKSADSLGKLELQHISSINVEEVSATEAAPEEAKLFTSQESETSLQSIRLLE
                     ALLAICLHGARTSQQKMELELPNQNLSVESILFEMRDHLSQSKVIETQLAKPLFDALLR
                     VALGNYSADFEHNDAMTEKSHQSAEELSSQPGDFSEEAEDSQCCSFKLLVEEEGYEADS
                     ESNPEDGETQDDGVDLKSETEGFSASSSPNDLLENLTQGEIIYPEICMLELNLLSASKA
                     KLDVLAHVFESFLKIIRQKEKNVFLLMQQGTVKNLLGGFLSILTQDDSDFQACQRVLVD
                     LLVSLMSSRTCSEELTLLLRIFLEKSPCTKILLLGILKIIESDTTMSPSQYLTFPLLHA
                     PNLSNGVSSQKYPGILNSKAMGLLRRARVSRSKKEADRESFPHRLLSSWHIAPVHLPLL
                     GQNCWPHLSEGFSVSLWFNVECIHEAESTTEKGKKIKKRNKSLILPDSSFDGTESDRPE
                     GAEYINPGERLIEEGCIHIISLGSKALMIQVWADPHNATLIFRVCMDSNDDMKAVLLAQ
                     VESQENIFLPSKWQHLVLTYLQQPQGKRRIHGKISIWVSGQRKPDVTLDFMLPRKTSLS
                     SDSNKTFCMIGHCLSSQEEFLQLAGKWDLGNLLLFNGAKVGSQEAFYLYACGPNHTSVM
                     PCKYGKPVNDYSKYINKEILRCEQIRELFMTKKDVDIGLLIESLSVVYTTYCPAQYTIY
                     EPVIRLKGQMKTQLSQRPFSSKEVQSILLEPHHLKNLQPTEYKTIQGILHEIGGTGIFV
                     FLFARVVELSSCEETQALALRVILSLIKYNQQRVHELENCNGLSMIHQVLIKQKCIVGF
                     YILKTLLEGCCGEDIIYMNENGEFKLDVDSNAIIQDVKLLEELLLDWKIWSKAEQGVWE
                     TLLAALEVLIRADHHQQMFNIKQLLKAQVVHHFLLTCQVLQEYKEGQLTPMPREVCRSF
                     VKIIAEVLGSPPDLELLTIIFNFLLAVHPPTNTYVCHNPTNFYFSLHIDGKIFQEKVRS
                     IMYLRHSSSGGRSLMSPGFMVISPSGFTASPYEGENSSNIIPQQMAAHMLRSRSLPAFP
                     TSSLLTQSQKLTGSLGCSIDRLQNIADTYVATQSKKQNSLGSSDTLKKGKEDAFISSCE
                     SAKTVCEMEAVLSAQVSVSDVPKGVLGFPVVKADHKQLGAEPRSEDDSPGDESCPRRPD
                     YLKGLASFQRSHSTIASLGLAFPSQNGSAAVGRWPSLVDRNTDDWENFAYSLGYEPNYN
                     RTASAHSVTEDCLVPICCGLYELLSGVLLILPDVLLEDVMDKLIQADTLLVLVNHPSPA
                     IQQGVIKLLDAYFARASKEQKDKFLKNRGFSLLANQLYLHRGTQELLECFIEMFFGRHI
                     GLDEEFDLEDVRNMGLFQKWSVIPILGLIETSLYDNILLHNALLLLLQILNSCSKVADM
                     LLDNGLLYVLCNTVAALNGLEKNIPMSEYKLLACDIQQLFIAVTIHACSSSGSQYFRVI
                     EDLIVMLGYLQNSKNKRTQNMAVALQLRVLQAAMEFIRTTANHDSENLTDSLQSPSAPH
                     HAVVQKRKSIAGPRKFPLAQTESLLMKMRSVANDELHVMMQRRMSQENPSQATETELAQ
                     RLQRLTVLAVNRIIYQEFNSDIIDILRTPENVTQSKTSVFQTEISEENIHHEQSSVFNP
                     FQKEIFTYLVEGFKVSIGSSKASGSKQQWTKILWSCKETFRMQLGRLLVHILSPAHAAQ
                     ERKQIFEIVHEPNHQEILRDCLSPSLQHGAKLVLYLSELIHNHQGELTEEELGTAELLM
                     NALKLCGHKCIPPSASTKADLIKMIKEEQKKYETEEGVNKAAWQKTVNNNQQSLFQRLD
                     SKSKDISKIAADITQAVSLSQGNERKKVIQHIRGMYKVDLSASRHWQELIQQLTHDRAV
                     WYDPIYYPTSWQLDPTEGPNRERRRLQRCYLTIPNKYLLRDRQKSEDVVKPPLSYLFED
                     KTHSSFSSTVKDKAASESIRVNRRCISVAPSRETAGELLLGKCGMYFVEDNASDTVESS
                     SLQGELEPASFSWTYEEIKEVHKRWWQLRDNAVEIFLTNGRTLLLAFDNTKVRDDVYHN
                     ILTNNLPNLLEYGNITALTNLWYTGQITNFEYLTHLNKHAGRSFNDLMQYPVFPFILAD
                     YVSETLDLNDLLIYRNLSKPIAVQYKEKEDRYVDTYKYLEEEYRKGAREDDPMPPVQPY
                     HYGSHYSNSGTVLHFLVRMPPFTKMFLAYQDQSFDIPDRTFHSTNTTWRLSSFESMTDV
                     KELIPEFFYLPEFLVNREGFDFGVRQNGERVNHVNLPPWARNDPRLFILIHRQALESDY
                     VSQNICQWIDLVFGYKQKGKASVQAINVFHPATYFGMDVSAVEDPVQRRALETMIKTYG
                     QTPRQLFHMAHVSRPGAKLNIEGELPAAVGLLVQFAFRETREQVKEITYPSPLSWIKGL
                     KWGEYVGSPSAPVPVVCFSQPHGERFGSLQALPTRAICGLSRNFCLLMTYSKEQGVRSM
                     NSTDIQWSAILSWGYADNILRLKSKQSEPPVNFIQSSQQYQVTSCAWVPDSCQLFTGSK
                     CGVITAYTNRFTSSTPSEIEMETQIHLYGHTEEITSLFVCKPYSILISVSRDGTCIIWD
                     LNRLCYVQSLAGHKSPVTAVSASETSGDIATVCDSAGGGSDLRLWTVNGDLVGHVHCRE
                     IICSVAFSNQPEGVSINVIAGGLENGIVRLWSTWDLKPVREITFPKSNKPIISLTFSCD
                     GHHLYTANSDGTVIAWCRKDQQRLKQPMFYSFLSSYAAG"
     misc_feature    603..680
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99698.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    651..653
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97412; propagated from
                     UniProtKB/Swiss-Prot (Q99698.3); phosphorylation site"
     misc_feature    654..656
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P97412; propagated from
                     UniProtKB/Swiss-Prot (Q99698.3); phosphorylation site"
     misc_feature    657..659
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97412; propagated from
                     UniProtKB/Swiss-Prot (Q99698.3); phosphorylation site"
     misc_feature    2145..2261
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99698.3);
                     Region: WD 1"
     misc_feature    3702..3770
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99698.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3822..3929
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99698.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4686..4688
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97412; propagated from
                     UniProtKB/Swiss-Prot (Q99698.3); phosphorylation site"
     misc_feature    4689..4691
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97412; propagated from
                     UniProtKB/Swiss-Prot (Q99698.3); phosphorylation site"
     misc_feature    4905..5039
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99698.3);
                     Region: WD 2"
     misc_feature    6474..6476
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99698.3); phosphorylation site"
     misc_feature    6531..6533
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q99698.3); phosphorylation site"
     misc_feature    6774..6833
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99698.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    6798..6800
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97412; propagated from
                     UniProtKB/Swiss-Prot (Q99698.3); phosphorylation site"
     misc_feature    6810..6812
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97412; propagated from
                     UniProtKB/Swiss-Prot (Q99698.3); phosphorylation site"
     misc_feature    6951..6953
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97412; propagated from
                     UniProtKB/Swiss-Prot (Q99698.3); phosphorylation site"
     misc_feature    10848..10967
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99698.3);
                     Region: WD 3"
     misc_feature    11001..11120
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99698.3);
                     Region: WD 4"
     misc_feature    11127..11258
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99698.3);
                     Region: WD 5"
     misc_feature    11259..11393
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99698.3);
                     Region: WD 6"
     misc_feature    11406..11525
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99698.3);
                     Region: WD 7"
     regulatory      13448..13453
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="hexamer: AATAAA"
     polyA_site      13466
                     /gene="LYST"
                     /gene_synonym="CHS; CHS1; Mauve"
                     /note="major polyA site"
ORIGIN
        1 ggcgtcggct cggggttctc cgggagaggg ggagtgcgcg gcggccgcag ctgccacaaa
       61 ccaggtgaag ctttgttcta agaatatttg tttcatctag tttatgagtc caaatgatat
      121 agactgtaaa tgtcacagca gtggtgaaag actgctcggt catgagcacc gacagtaact
      181 cactggcacg tgaatttctg accgatgtca accggctttg caatgcagtg gtccagaggg
      241 tggaggccag ggaggaagaa gaggaggaga cgcacatggc aacccttgga cagtaccttg
      301 tccatggtcg aggatttcta ttacttacca agctaaattc tataattgat caggcattga
      361 catgtagaga agaactcctg actcttcttc tgtctctcct tccactggta tggaagatac
      421 ctgtccaaga agaaaaggca acagatttta acctaccgct ctcagcagat ataatcctga
      481 ccaaagaaaa gaactcaagt tcacaaagat ccactcagga aaaattacat ttagaaggaa
      541 gtgccctgtc tagtcaggtt tctgcaaaag taaatgtttt tcgaaaaagc agacgacagc
      601 gtaaaattac ccatcgctat tctgtaagag atgcaagaaa gacacagctc tccacctcag
      661 attcagaagc caattcagat gaaaaaggca tagcaatgaa taagcataga aggccccatc
      721 tgctgcatca ttttttaaca tcgtttccta aacaagacca ccccaaagct aaacttgacc
      781 gcttagcaac caaagaacag actcctccag atgctatggc tttggaaaat tccagagaga
      841 ttattccaag acaggggtca aacactgaca ttttaagtga gccagctgcc ttgtctgtta
      901 tcagtaacat gaacaattct ccatttgact tatgtcatgt tttgttatct ttattagaaa
      961 aagtttgtaa gtttgacgtt accttgaatc ataattctcc tttagcagcc agtgtagtgc
     1021 ccacactaac tgaattccta gcaggctttg gggactgctg cagtctgagc gacaacttgg
     1081 agagtcgagt agtttctgca ggttggaccg aagaaccggt ggctttgatt caaaggatgc
     1141 tctttcgaac agtgttgcat cttctgtcag tagatgttag tactgcagag atgatgccag
     1201 aaaatcttag gaaaaattta actgaattgc ttagagcagc tttaaaaatt agaatatgcc
     1261 tagaaaagca gcctgaccct tttgcaccaa gacaaaagaa aacactgcag gaggttcagg
     1321 aagattttgt gttttcaaag tatcgtcata gagcccttct tttacctgag cttttggaag
     1381 gagttcttca gattctgatc tgttgtcttc aaagtgcagc ttcaaatccc ttctacttca
     1441 gtcaagccat ggatttggtt caagaattca ttcagcatca tggatttaat ttatttgaaa
     1501 cagcagttct tcaaatggaa tggctggttt taagagatgg agttcctccc gaggcctcag
     1561 agcatttgaa agccctaata aatagtgtga tgaaaataat gagcactgtc aaaaaagtga
     1621 aatcagagca acttcatcat tcgatgtgta caagaaaaag gcacagacga tgtgaatatt
     1681 ctcattttat gcatcatcac cgagatctct caggtcttct ggtttcggct tttaaaaacc
     1741 aggtttccaa aaacccattt gaagagactg cagatggaga tgtttattat cctgagcggt
     1801 gctgttgcat tgcagtgtgt gcccatcagt gcttgcgctt actacagcag gcttccttga
     1861 gcagcacttg tgtccagatc ctatcgggtg ttcataacat tggaatatgc tgttgtatgg
     1921 atcccaaatc tgtaatcatt cctttgctcc atgcttttaa attgccagca ctgaaaaatt
     1981 ttcagcagca tatattgaat atccttaaca aacttatttt ggatcagtta ggaggagcag
     2041 agatatcacc aaaaattaaa aaagcagctt gtaatatttg tactgttgac tctgaccaac
     2101 tagcccaatt agaagagaca ctgcagggaa acttatgtga tgctgaactc tcctcaagtt
     2161 tatccagtcc ttcttacaga tttcaaggga tcctgcccag cagtggatct gaagatttgt
     2221 tgtggaaatg ggatgcttta aaggcttatc agaactttgt ttttgaagaa gacagattac
     2281 atagtataca gattgcaaat cacatttgca atttaatcca gaaaggcaat atagttgttc
     2341 agtggaaatt atataattac atatttaatc ctgtgctcca aagaggagtt gaattagcac
     2401 atcattgtca acacctaagc gttacttcag ctcaaagtca tgtatgtagc catcataacc
     2461 agtgcttgcc tcaggacgtg cttcagattt atgtaaaaac tctgcctatc ctgcttaaat
     2521 ccagggtaat aagagatttg tttttgagtt gtaatggagt aagtcaaata atcgaattaa
     2581 attgcttaaa tggtattcga agtcattctc taaaagcatt tgaaactctg ataatcagcc
     2641 taggggagca acagaaagat gcctcagttc cagatattga tgggatagac attgaacaga
     2701 aggagttgtc ctctgtacat gtgggtactt cttttcatca tcagcaagct tattcagatt
     2761 ctcctcagag tctcagcaaa ttttatgctg gcctcaaaga agcttatcca aagagacgga
     2821 agactgttaa ccaagatgtt catatcaaca caataaacct attcctctgt gtggcttttt
     2881 tatgcgtaag taaagaagca gagtctgaca gggagtcggc caatgactca gaagatactt
     2941 ctggctatga cagcacagcc agcgagcctt taagtcatat gctgccatgt atatctctcg
     3001 agagccttgt cttgccttct cctgaacata tgcaccaagc agcagacatt tggtctatgt
     3061 gtcgttggat ctacatgttg agttcagtgt tccagaaaca gttttatagg cttggtggtt
     3121 tccgagtatg ccataagtta atatttatga taatacagaa actgttcaga agtcacaaag
     3181 aggagcaagg aaaaaaggag ggagatacaa gtgtaaatga aaaccaggat ttaaacagaa
     3241 tttctcaacc taagagaact atgaaggaag atttattatc tttggctata aaaagtgacc
     3301 ccataccatc agaactaggt agtctaaaaa agagtgctga cagtttaggt aaattagagt
     3361 tacagcatat ttcttccata aatgtggaag aagtttcagc tactgaagcc gctcccgagg
     3421 aagcaaagct atttacaagt caagaaagtg agacctcact tcaaagtata cgacttttgg
     3481 aagcccttct ggccatttgt cttcatggtg ccagaactag tcaacagaag atggaattgg
     3541 agttacctaa tcagaacttg tctgtggaaa gtatattatt tgaaatgagg gaccatcttt
     3601 cccagtcaaa ggtgattgaa acacaactag caaagccttt atttgatgcc ctgcttcgag
     3661 ttgccctcgg gaattattca gcagattttg aacataatga tgctatgact gagaagagtc
     3721 atcaatctgc agaagaattg tcatcccagc ctggtgattt ttcagaagaa gctgaggatt
     3781 ctcagtgttg tagttttaaa cttttagttg aagaagaagg ttacgaagca gatagtgaaa
     3841 gcaatcctga agatggcgaa acccaggatg atggggtaga cttaaagtct gaaacagaag
     3901 gtttcagtgc atcaagcagt ccaaatgact tactcgaaaa cctcactcaa ggggaaataa
     3961 tttatcctga gatttgtatg ctggaattaa atttgctttc tgctagtaaa gccaaacttg
     4021 atgtgcttgc ccatgtattt gagagttttt tgaaaattat taggcagaaa gaaaagaatg
     4081 tttttctgct catgcaacag ggaactgtga aaaatctttt aggagggttc ttgagtattt
     4141 taacacagga tgattctgat tttcaagcat gccagagagt attggtggat cttttggtat
     4201 ctttgatgag ttcaagaaca tgttcagaag agctaaccct tcttttgaga atatttctgg
     4261 agaaatctcc ttgtacaaaa attcttcttc tgggtattct gaaaattatt gaaagtgata
     4321 ctactatgag cccttcacag tatctaacct tccctttact gcacgctcca aatttaagca
     4381 acggtgtttc atcacaaaag tatcctggga ttttaaacag taaggccatg ggtttattga
     4441 gaagagcacg agtttcacgg agcaagaaag aggctgatag agagagtttt ccccatcggc
     4501 tgctttcatc ttggcacata gccccagtcc acctgccgtt gctggggcaa aactgctggc
     4561 cacacctatc agaaggtttc agtgtttccc tgtggtttaa tgtggagtgt atccatgaag
     4621 ctgagagtac tacagaaaaa ggaaagaaga taaagaaaag aaacaaatca ttaattttac
     4681 cagatagcag ttttgatggt acagagagcg acagaccaga aggtgcagag tacataaatc
     4741 ctggtgaaag actcatagaa gaaggatgta ttcatataat ttcactggga tccaaagcgt
     4801 tgatgatcca agtgtgggct gatccccaca atgccactct tatctttcgt gtgtgcatgg
     4861 attcaaatga tgacatgaaa gctgttttac tagcacaggt tgaatcacag gagaatattt
     4921 tcctcccaag caaatggcaa catttagtac tcacctactt acagcagccc caagggaaaa
     4981 ggaggattca tgggaaaatc tccatatggg tctctggaca gaggaagcct gatgttactt
     5041 tggattttat gcttccaaga aaaacaagtt tgtcatctga tagcaataaa acattttgca
     5101 tgattggcca ttgtttatca tcccaagaag agtttttgca gttggctgga aaatgggacc
     5161 tgggaaattt gcttctcttc aacggagcta aggttggttc acaagaggcc ttttatctgt
     5221 atgcttgtgg acccaaccat acatctgtaa tgccatgtaa gtatggcaag ccagtcaatg
     5281 actactccaa atatattaat aaagaaattt tgcgatgtga acaaatcaga gaacttttta
     5341 tgaccaagaa agatgtggat attggtctct taattgaaag tctttcagtt gtttatacaa
     5401 cttactgtcc tgctcagtat accatctatg aaccagtgat tagacttaaa ggtcaaatga
     5461 aaacccaact ctctcaaaga cccttcagct caaaagaagt tcagagcatc ttattagaac
     5521 ctcatcatct aaagaatctc caacctactg aatataaaac tattcaaggc attctgcacg
     5581 aaattggtgg aactggcata tttgtttttc tctttgccag ggttgttgaa ctcagtagct
     5641 gtgaagaaac tcaagcatta gcactgcgag ttatactctc attaattaaa tacaaccaac
     5701 aaagagtaca tgaattagaa aattgtaatg gactttctat gattcatcag gtgttgatca
     5761 aacaaaaatg cattgttggg ttttacattt tgaagaccct tcttgaagga tgctgtggtg
     5821 aagatattat ttatatgaat gagaatggag agtttaagtt ggatgtagac tctaatgcta
     5881 taatccaaga tgttaagctg ttagaggaac tattgcttga ctggaagata tggagtaaag
     5941 cagagcaagg tgtttgggaa actttgctag cagctctaga agtcctcatc agagcagatc
     6001 accaccagca gatgtttaat attaagcagt tattgaaagc tcaagtggtt catcactttc
     6061 tactgacttg tcaggttttg caggaataca aagaggggca actcacaccc atgccccgag
     6121 aggtttgtag atcatttgtg aaaattatag cagaagtcct tggatctcct ccagatttgg
     6181 aattattgac aattatcttc aatttccttt tagcagttca ccctcctact aatacttacg
     6241 tttgtcacaa tcccacgaac ttctactttt ctttgcacat agatggcaag atctttcagg
     6301 agaaagtgcg gtcaatcatg tacctgaggc attccagcag tggaggaagg tcccttatga
     6361 gccctggatt tatggtaata agcccatctg gttttactgc ttcaccatat gaaggagaga
     6421 attcctctaa tattattcca caacagatgg ccgcccatat gctgcgttct agaagcctac
     6481 cagcattccc tacttcttca ctactaacgc aatcacaaaa actgactgga agtttgggtt
     6541 gtagtatcga caggttacaa aatattgcag atacttatgt tgccacccaa tcaaagaaac
     6601 aaaattcttt ggggagttcc gacacactga aaaaaggcaa agaggacgca ttcatcagta
     6661 gctgtgagtc tgcaaaaact gtttgtgaaa tggaagctgt cctctcagcc caggtctctg
     6721 tcagtgatgt cccaaaggga gtgctgggat ttccagtggt caaagcagat cataaacagt
     6781 tgggagcaga acccaggtca gaagatgaca gtcctgggga tgagtcctgc ccacgccgac
     6841 ctgattacct aaagggattg gcctccttcc agcgaagcca cagcactatt gcaagccttg
     6901 ggctagcttt tccttcacag aacggatctg cagctgttgg ccgttggcca agtcttgttg
     6961 atagaaacac tgatgattgg gaaaactttg cctattctct tggttatgag ccaaattaca
     7021 accgaactgc aagtgctcac agtgtaactg aagactgttt ggtacctata tgctgtggat
     7081 tatatgaact cctaagtggg gttcttctta tcctgcctga tgttttgctt gaagatgtga
     7141 tggacaagct tattcaagca gatacacttt tggtcctcgt taaccaccca tcaccagcta
     7201 tacaacaagg tgttattaaa ctattagatg catattttgc tagagcatct aaggaacaaa
     7261 aagataaatt tctgaagaat cgtggatttt ccttgctagc caaccagttg tatcttcatc
     7321 gaggaactca agaattgtta gaatgcttca tcgaaatgtt ctttggtcga catattggcc
     7381 ttgatgaaga atttgatctg gaagatgtga gaaacatggg attgtttcag aagtggtctg
     7441 tcattcctat tctgggacta atagagacct ctctatatga caacatactc ttgcataatg
     7501 ctcttttact tcttctccaa attttaaatt cttgttctaa ggtagcagat atgttgctgg
     7561 ataatggtct actctatgtg ttatgtaata cagtagcagc cctgaatgga ttagaaaaga
     7621 acattcccat gagtgaatat aaattgcttg cttgtgatat acagcaactt ttcatagcag
     7681 ttacaattca tgcttgcagt tcctcaggct cacaatattt tagggttatt gaagacctta
     7741 ttgtaatgct tggatatctt caaaatagca aaaacaagag gacacaaaat atggctgttg
     7801 cactacagct tagagttctc caggctgcta tggaatttat aaggaccacc gcaaatcatg
     7861 actctgaaaa cctcacagat tcactccagt caccttctgc tccccatcat gcagtagttc
     7921 aaaagcggaa aagcattgct ggtcctcgaa aatttcccct tgctcaaact gaatcgcttc
     7981 tgatgaaaat gcgttcagtg gcaaatgatg agcttcatgt gatgatgcaa cggagaatga
     8041 gccaagagaa ccctagccaa gcaactgaaa cggaacttgc gcagagacta cagaggctca
     8101 ctgttttagc agtcaacagg attatttatc aagaatttaa ttcagacatt attgacattt
     8161 tgagaactcc agaaaatgta actcaaagca agacctcagt tttccagacc gaaatttctg
     8221 aggaaaatat tcatcatgaa cagtcttctg ttttcaatcc atttcagaaa gaaattttta
     8281 catatctggt agaaggattc aaagtatcta ttggttcaag taaagccagt ggttccaagc
     8341 agcaatggac taaaattctg tggtcttgta aggagacctt ccgaatgcag cttgggagac
     8401 tactagtgca tattttgtcg ccagcccacg ctgcacaaga gagaaagcaa atttttgaaa
     8461 tagttcatga accaaatcat caggaaatac tacgagactg tctcagccca tccctacaac
     8521 atggagccaa gttagttttg tatttgtcag agttgataca taatcaccaa ggtgaattga
     8581 ctgaagaaga gctaggcaca gcagaactgc ttatgaatgc tttgaagtta tgtggtcaca
     8641 agtgcatccc tcccagtgca tcaacaaaag cagaccttat taaaatgatc aaagaggaac
     8701 aaaagaaata tgaaactgaa gaaggagtga ataaagctgc ttggcagaaa acagttaaca
     8761 ataatcaaca aagtctcttt cagcgtctgg attcaaaatc aaaggatata tctaaaatag
     8821 ctgcagatat cacccaggca gtgtctctct cccaaggaaa tgagagaaaa aaggtgatcc
     8881 agcatattag aggaatgtat aaagtagatt tgagtgccag cagacattgg caggaactta
     8941 ttcagcagct gacacatgat agagcagtat ggtatgaccc catctactat ccaacctcat
     9001 ggcagttgga tccaacagaa gggccaaatc gagagaggag acgtttacag agatgttatt
     9061 taactattcc aaataagtat ctccttaggg atagacagaa atcagaagat gttgtcaaac
     9121 caccactctc ttacctgttt gaagacaaaa ctcattcttc tttctcttct actgtcaaag
     9181 acaaagctgc aagtgaatct ataagagtga atcgaagatg catcagtgtt gcaccatcta
     9241 gagagacagc tggtgaattg ttactaggta aatgtggaat gtattttgtg gaagataatg
     9301 cttctgatac agttgaaagt tcgagccttc agggagagtt ggaaccagca tcattttcct
     9361 ggacatatga agaaattaaa gaagttcaca agcgttggtg gcaattgaga gataatgctg
     9421 tagaaatctt tctaacaaat ggcagaacac tcctgttggc atttgataac accaaggttc
     9481 gtgatgatgt ataccacaat atactcacaa ataacctccc taatcttctg gaatatggta
     9541 acatcaccgc tctgacaaat ttatggtata ctgggcaaat tactaatttt gaatatttga
     9601 ctcacttaaa caaacatgct ggccgatcct tcaatgatct catgcagtat cctgtgttcc
     9661 catttatact tgctgactac gttagtgaga cacttgacct caatgatctg ttgatataca
     9721 gaaatctctc taaacctata gctgttcagt ataaagaaaa agaagatcgt tatgtggaca
     9781 catacaagta cttggaggaa gagtaccgca aaggagccag agaagatgac cccatgcctc
     9841 ccgtgcagcc ctatcactat ggctcccact attccaatag cggcactgtg cttcacttcc
     9901 tggtcaggat gcctcctttc actaaaatgt ttttagccta tcaagatcaa agttttgaca
     9961 ttccagacag aacttttcat tctacaaata caacttggcg actctcatct tttgaatcta
    10021 tgactgatgt gaaagaactt atcccagagt ttttctatct tccagagttc ctagttaacc
    10081 gtgaaggttt tgattttggt gtgcgtcaga atggtgaacg ggttaatcac gtcaaccttc
    10141 ccccttgggc gcgtaatgat cctcgtcttt ttatcctcat ccatcggcag gctctagagt
    10201 ctgactacgt gtcgcagaac atctgtcagt ggattgactt ggtgtttggg tataagcaaa
    10261 aggggaaggc ttctgttcaa gcgatcaatg tttttcatcc tgctacatat tttggaatgg
    10321 atgtctctgc agttgaagat ccagttcaga gacgagcgct agaaaccatg ataaaaacct
    10381 acgggcagac tccccgtcag ctgttccaca tggcccatgt gagcagacct ggagccaagc
    10441 tcaatattga aggagagctt ccagctgctg tggggttgct agtgcagttt gctttcaggg
    10501 agacccgaga acaggtcaaa gaaatcacct atccgagtcc tttgtcatgg ataaaaggct
    10561 tgaaatgggg ggaatacgtg ggttccccca gtgctccagt acctgtggtc tgcttcagcc
    10621 agccccacgg agaaagattt ggctctctcc aggctctgcc caccagagca atctgtggtt
    10681 tgtcacggaa tttctgtctt ctgatgacat atagcaagga acaaggtgtg agaagcatga
    10741 acagtacgga cattcagtgg tcagccatcc tgagctgggg atatgctgat aatattttaa
    10801 ggttgaagag taaacaaagt gagcctccag taaactttat tcaaagttca caacagtacc
    10861 aggtgactag ttgtgcttgg gtgcctgaca gttgccagct gtttactgga agcaaatgcg
    10921 gtgtcatcac agcctacaca aacagattta caagcagcac gccatcagaa atagaaatgg
    10981 agactcaaat acatctctat ggtcacacag aagagataac cagcttattt gtttgcaaac
    11041 catacagtat actgataagt gtgagcagag acggaacctg catcatatgg gatttaaaca
    11101 ggttatgcta tgtacaaagt ctggcgggac acaaaagccc tgtcacagct gtctctgcca
    11161 gtgaaacctc aggtgatatt gctactgtgt gtgattcagc tggcggaggc agtgacctca
    11221 gactctggac ggtgaacggg gatctcgttg gacatgtcca ctgcagggag atcatctgtt
    11281 ccgtggcttt ctccaaccag cctgagggag tatctatcaa tgtaatcgct gggggattag
    11341 aaaatggaat tgtaaggtta tggagcacat gggacttaaa gcctgtgaga gaaattacat
    11401 ttcccaaatc aaataagccc atcatcagcc ttacattttc ttgtgatggc caccatttgt
    11461 acacagcaaa cagtgatggg accgtgattg cctggtgtcg gaaggaccag cagcgcttga
    11521 aacagccaat gttctattcc ttccttagca gctatgcagc cgggtgaatg cgaatgaact
    11581 tcacgttctc caaagcactt taactccaaa ctagatttgt tgacttcacc agttttagga
    11641 ggttgaacct aaagaaatgg atgactggac aaaccatcca aataatgata aagtctattc
    11701 atctgcacaa aattctgaag agtcacatga tcctaagagg aaagttctgt tctattttag
    11761 tgataatctg gaagattgtg tcaatatgca ctagccaaca agttttaagc ctcgcatggt
    11821 acattaaaat gatattctta aaattttttc ccaccaaggt attccaaaga aaatattaag
    11881 gtctcccctt tttctatgat tccaaaagga ccagtagaat ttaaattggt tggttgattg
    11941 tttatataaa acacactaaa attatatttt aaaagtttac tgccatgaaa tactcctccc
    12001 accacacaca catgctccaa aagaggaaag aaaaaaagat aatttttagg acttgataat
    12061 tgctttcttt gagaagcaaa ttattcagta ggtgcctctg taccaaatat tttatggaat
    12121 atctaaatac taaaataaac tatgaatgaa tctcaaaatt aggcagtttt tgccagttgc
    12181 tttcttagct caaaggagaa ccagaatttt tttgacagcc acaaacaaga atacaggtat
    12241 cttggatttc agacacattc tgtttcttca taaaaatttt acttaaaatc tgtaacgcta
    12301 gatattgact atccttagtt gagtcactga ggtttaaaca caatggtaag tcttaaagtc
    12361 tgctatttac agagcattga atctgtacca atttgcaata gaaagccttc agtatgcaag
    12421 aagtttgcat gggtattaag aacacagcct aaataaggca tttgatctaa tctgcaggaa
    12481 gaattttctt ccccaaaaca gaattataaa agcttacttt aaacaggagg cagaataatt
    12541 cttttaggaa accatttcat tctgtttcta ctaacctata ccatctgaga attctaggaa
    12601 gaataataaa atctcgtgta ttccacagca aacttacata ccataaagac agaattccta
    12661 aacatcttgg agccgtctgt ctctcccata tgatggctgt ctgtatattt ttacttgggg
    12721 tgctgcttta ttggctttga aaacactgtc agataagctc agtaatatgt taccatggga
    12781 taaaaatatg tatccctgcc taagaataac ttgtgcattt gttatggaaa tttaattcat
    12841 atggtgttta cagtactact tttgtaactt ccagactttc taaaacattc tgcttaaaaa
    12901 ccatataaaa tataattcca aagtctctgc tgtcaagata gattcgagag aaagcacgtg
    12961 gccatgtatg ctttaacctt aaactgcata cacatgtagt gatacctagg ctgcatttag
    13021 atcaccgtgt gctcaggcca ggtgtgaatc ctgaggtcca tggaggtgca gagatgagat
    13081 tactcctatt cacgttgaag tgatttgctt tgttaacaaa aaattgcagc tattgtctag
    13141 ctttcatttt tttactgaga actttaaatt agtcccctat tagaataggg ttgctactca
    13201 tcttttttta aaaaccgaat ttcatcattt atctaaagag aaaatatgca gaataactgg
    13261 tcttgttaag agtgcaatat tatattttta tgtaaaaata aaaattaatt tggggggatt
    13321 atttattcag catgaaacct aatatgtata tgtttgaaat acttcataat gtgcatgttg
    13381 tagcaaacat ttctgtaaat tatcacaagc tctgttacct ttatatacac tgcctcttca
    13441 atttggaaat aaatttcata aaaata
//
LOCUS       NM_000082               9414 bp    mRNA    linear   PRI 19-MAR-2023
DEFINITION  Homo sapiens ERCC excision repair 8, CSA ubiquitin ligase complex
            subunit (ERCC8), transcript variant 1, mRNA.
ACCESSION   NM_000082
VERSION     NM_000082.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9414)
  AUTHORS   Hao XD, Yao YZ, Xu KG, Dong B, Xu WH and Zhang JJ.
  TITLE     Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation
            Is Associated With Keratoconus With Congenital Cataracts
  JOURNAL   Invest Ophthalmol Vis Sci 63 (13), 1 (2022)
   PUBMED   36454558
  REMARK    GeneRIF: Insufficient Dose of ERCC8 Protein Caused by a Frameshift
            Mutation Is Associated With Keratoconus With Congenital Cataracts.
REFERENCE   2  (bases 1 to 9414)
  AUTHORS   Gauhar Z, Tejwani L, Abdullah U, Saeed S, Shafique S, Badshah M,
            Choi J, Dong W, Nelson-Williams C, Lifton RP, Lim J and Raja GK.
  TITLE     A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar
            Ataxia in a Consanguineous Pakistani Family
  JOURNAL   Cells 11 (19), 3090 (2022)
   PUBMED   36231052
  REMARK    GeneRIF: A Novel Missense Mutation in ERCC8 Co-Segregates with
            Cerebellar Ataxia in a Consanguineous Pakistani Family. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 9414)
  AUTHORS   Yousefipour F and Mahjoobi F.
  TITLE     Identification of two novel homozygous mutations in ERCC8 gene in
            two unrelated consanguineous families with Cockayne syndrome from
            Iran
  JOURNAL   Clin Chim Acta 523, 65-71 (2021)
   PUBMED   34461059
  REMARK    GeneRIF: Identification of two novel homozygous mutations in ERCC8
            gene in two unrelated consanguineous families with Cockayne syndrome
            from Iran.
REFERENCE   4  (bases 1 to 9414)
  AUTHORS   Lanzafame M, Branca G, Landi C, Qiang M, Vaz B, Nardo T, Ferri D,
            Mura M, Iben S, Stefanini M, Peverali FA, Bini L and Orioli D.
  TITLE     Cockayne syndrome group A and ferrochelatase finely tune ribosomal
            gene transcription and its response to UV irradiation
  JOURNAL   Nucleic Acids Res 49 (19), 10911-10930 (2021)
   PUBMED   34581821
  REMARK    GeneRIF: Cockayne syndrome group A and ferrochelatase finely tune
            ribosomal gene transcription and its response to UV irradiation.
REFERENCE   5  (bases 1 to 9414)
  AUTHORS   Qiang M, Khalid F, Phan T, Ludwig C, Scharffetter-Kochanek K and
            Iben S.
  TITLE     Cockayne Syndrome-Associated CSA and CSB Mutations Impair Ribosome
            Biogenesis, Ribosomal Protein Stability, and Global Protein Folding
  JOURNAL   Cells 10 (7), 1616 (2021)
   PUBMED   34203326
  REMARK    GeneRIF: Cockayne Syndrome-Associated CSA and CSB Mutations Impair
            Ribosome Biogenesis, Ribosomal Protein Stability, and Global Protein
            Folding. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 9414)
  AUTHORS   Selby CP and Sancar A.
  TITLE     Human transcription-repair coupling factor CSB/ERCC6 is a
            DNA-stimulated ATPase but is not a helicase and does not disrupt the
            ternary transcription complex of stalled RNA polymerase II
  JOURNAL   J Biol Chem 272 (3), 1885-1890 (1997)
   PUBMED   8999876
REFERENCE   7  (bases 1 to 9414)
  AUTHORS   Bregman DB, Halaban R, van Gool AJ, Henning KA, Friedberg EC and
            Warren SL.
  TITLE     UV-induced ubiquitination of RNA polymerase II: a novel modification
            deficient in Cockayne syndrome cells
  JOURNAL   Proc Natl Acad Sci U S A 93 (21), 11586-11590 (1996)
   PUBMED   8876179
REFERENCE   8  (bases 1 to 9414)
  AUTHORS   Itoh T, Shiomi T, Shiomi N, Harada Y, Wakasugi M, Matsunaga T,
            Nikaido O, Friedberg EC and Yamaizumi M.
  TITLE     Rodent complementation group 8 (ERCC8) corresponds to Cockayne
            syndrome complementation group A
  JOURNAL   Mutat Res 362 (2), 167-174 (1996)
   PUBMED   8596535
REFERENCE   9  (bases 1 to 9414)
  AUTHORS   Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R,
            Schultz RA, Stefanini M, Lehmann AR, Mayne LV and Friedberg EC.
  TITLE     The Cockayne syndrome group A gene encodes a WD repeat protein that
            interacts with CSB protein and a subunit of RNA polymerase II TFIIH
  JOURNAL   Cell 82 (4), 555-564 (1995)
   PUBMED   7664335
REFERENCE   10  (bases 1 to 9414)
  AUTHORS   Laugel,V.
  TITLE     Cockayne Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301516
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1127875.1,
            SRR1660805.216558.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000676185.1/ ENSP00000501614.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA169067.1, U28413.1 and
            AC104113.3.
            On Jan 22, 2020 this sequence version replaced NM_000082.3.
            Summary: This gene encodes a WD repeat protein, which interacts
            with Cockayne syndrome type B (CSB) protein and with p44 protein, a
            subunit of the RNA polymerase II transcription factor IIH.
            Mutations in this gene have been identified in patients with
            hereditary disease Cockayne syndrome (CS). CS cells are abnormally
            sensitive to ultraviolet radiation and are defective in the repair
            of transcriptionally active genes. Several transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Mar 2014].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..9414
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q12.1"
     gene            1..9414
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="ERCC excision repair 8, CSA ubiquitin ligase complex
                     subunit"
                     /db_xref="GeneID:1161"
                     /db_xref="HGNC:HGNC:3439"
                     /db_xref="MIM:609412"
     misc_feature    51..53
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="upstream in-frame stop codon"
     CDS             63..1253
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Cockayne syndrome WD-repeat protein CSA; DNA excision
                     repair protein ERCC-8; excision repair cross-complementing
                     rodent repair deficiency, complementation group 8; cockayne
                     syndrome WD repeat protein CSA; excision repair
                     cross-complementation group 8"
                     /codon_start=1
                     /product="DNA excision repair protein ERCC-8 isoform 1"
                     /protein_id="NP_000073.1"
                     /db_xref="CCDS:CCDS3978.1"
                     /db_xref="GeneID:1161"
                     /db_xref="HGNC:HGNC:3439"
                     /db_xref="MIM:609412"
                     /translation="MLGFLSARQTGLEDPLRLRRAESTRRVLGLELNKDRDVERIHGGG
                     INTLDIEPVEGRYMLSGGSDGVIVLYDLENSSRQSYYTCKAVCSIGRDHPDVHRYSVET
                     VQWYPHDTGMFTSSSFDKTLKVWDTNTLQTADVFNFEETVYSHHMSPVSTKHCLVAVGT
                     RGPKVQLCDLKSGSCSHILQGHRQEILAVSWSPRYDYILATASADSRVKLWDVRRASGC
                     LITLDQHNGKKSQAVESANTAHNGKVNGLCFTSDGLHLLTVGTDNRMRLWNSSNGENTL
                     VNYGKVCNNSKKGLKFTVSCGCSSEFVFVPYGSTIAVYTVYSGEQITMLKGHYKTVDCC
                     VFQSNFQELYSGSRDCNILAWVPSLYEPVPDDDETTTKSQLNPAFEDAWSSSDEEG"
     misc_feature    159..281
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13216.1);
                     Region: WD 1"
     misc_feature    324..449
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13216.1);
                     Region: WD 2"
     misc_feature    459..581
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13216.1);
                     Region: WD 3"
     misc_feature    591..710
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13216.1);
                     Region: WD 4"
     misc_feature    765..884
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13216.1);
                     Region: WD 5"
     misc_feature    903..1025
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13216.1);
                     Region: WD 6"
     misc_feature    1035..1151
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13216.1);
                     Region: WD 7"
     misc_feature    1173..1250
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13216.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1230..1232
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q13216.1); phosphorylation site"
     misc_feature    1233..1235
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q13216.1); phosphorylation site"
     misc_feature    1236..1238
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q13216.1); phosphorylation site"
     regulatory      2012..2017
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="hexamer: AATAAA"
     polyA_site      2034
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="major polyA site"
     regulatory      4958..4963
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="hexamer: AGTAAA"
     polyA_site      4993
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
     regulatory      8226..8231
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="hexamer: AATACA"
     polyA_site      8244
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
     regulatory      9389..9394
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
                     /note="hexamer: AATAAA"
     polyA_site      9414
                     /gene="ERCC8"
                     /gene_synonym="CKN1; CSA; UVSS2"
ORIGIN
        1 agtcccgccc ctgagctctg tcatggcgac gtccagtgct ccagccggtg tgaggacacg
       61 atatgctggg gtttttgtcc gcacgccaaa cgggtttgga ggaccctctt cgccttcgga
      121 gagcagagtc aacacggaga gttttgggac tggaattaaa taaagacaga gatgttgaaa
      181 gaatccacgg cggtggaatt aacacccttg acattgaacc tgttgaaggg agatacatgt
      241 tatcaggtgg ttcagatggt gtgattgtac tttatgacct tgagaactcc agcagacaat
      301 cttattacac atgtaaagca gtgtgttcca ttggcagaga tcatcctgat gttcacagat
      361 acagtgtgga gactgtacag tggtatcctc atgacactgg catgttcaca tcaagctcat
      421 ttgataaaac tctgaaagta tgggatacaa atacattaca aactgcagat gtatttaatt
      481 ttgaggaaac agtttatagt catcatatgt ctccagtctc caccaagcac tgtttggtag
      541 cagttggtac tagaggaccc aaagtacaac tttgtgactt gaagtctgga tcctgttctc
      601 acattctaca gggtcacaga caagaaatat tagcagtttc ctggtctcca cgttatgact
      661 atatcttggc aacagcaagt gctgacagta gagtaaaatt atgggatgtg agaagagcat
      721 caggatgttt gattactctt gatcaacata atgggaaaaa gtcacaagct gttgaatcag
      781 caaacactgc tcataatggg aaagttaatg gcttatgttt tacaagtgat ggacttcacc
      841 tcctcactgt tggtacagat aatcgaatga ggctctggaa tagttccaat ggagaaaaca
      901 cacttgtgaa ctatggaaaa gtttgtaata acagtaaaaa aggattgaaa ttcactgtct
      961 cctgtggctg cagttcagaa tttgtttttg taccatatgg tagcaccatt gctgtttata
     1021 cagtttactc aggagaacag ataactatgc ttaagggaca ttataaaact gttgactgct
     1081 gtgtatttca gtcaaatttc caggaacttt atagtggtag cagagactgc aacattctgg
     1141 cttgggttcc atccttatat gaaccagttc ctgatgatga tgagactaca acaaaatcac
     1201 aattaaatcc ggcctttgaa gatgcctgga gcagcagtga tgaagaagga tgaatatcat
     1261 ctttagtacc tttttgtctc tgctgaaact ttttaaatga gactgtgttt ttttcaactg
     1321 tatggtctat tcctgacagc taaattagcc ctaaatgtgg gtaatatttt tcctcatgtt
     1381 ttaaaatgag gttaatattt gcataaaatc ctaaaacaga cttctgtata gtttatttag
     1441 tcaaaatgtg ttccttgatc ccagatgttg tggcctggga aagccctcat tgctacagta
     1501 caagtaacac aagtcgttgt acctcagttg tgaccttcag cagattttat gaactataag
     1561 atgcagtctc agaggatcag caagtggagg ccatcagtat tgactttctc ttacttgctg
     1621 tactatcagc ctgctcgttt ccacctttaa gaatgatttt gccaagaatg attatatcaa
     1681 aaatagtagt tgaaatggta acatcaaaat tattttattc tttcttcttc atgtattcac
     1741 atttttcagt ggtttcattt aattaaccat gctttatgtt aaacattttg gggctcaatg
     1801 tctcctacta tccaaaatgt gcatcacagg aggcttttaa ctttgtgaaa atcccatgtt
     1861 tgctttattt tattttaatg tcagaaggca gtttgcgcta atgcttgaac tctttttctg
     1921 tgaaactcat taaggtatga ccaaatcctg cctcattaat tcaagcagaa aatatcctgg
     1981 cagggaatct ggcttaaaca tgaaatgctg taataaaatt tctatgttat tgtctccgtc
     2041 tgtgtcaacc cacacgtgat tatcatgaag gtaatcttaa ttttcccttc ctgatcctta
     2101 ccagcagtag actagtaaat gaggctttta tgagcttgaa taccaaaagt aaacagttgt
     2161 tgagggtttt ttgttttttt gtttttttcc tgagatggag tttcactctg tcgctcaggc
     2221 cggagtgcag tgttttgatc tcagctcact gcaaccttca cctcccaggt tcaagcaatt
     2281 ctcctgccta agcctcctga gtagctggga ttacaggctc ccgccactgc gcccggttaa
     2341 tttttttgta ttttcagtag agatggggtt tcaccatgtt ggccaggctg gttgcgaact
     2401 gctgacctca aatgatccac ccgcctcggc ctctcaaagt gctggaatta taagcttgag
     2461 ccactgcacc cagccagttg ttgagttttt aagtgtataa gggttagacc tcctatcaga
     2521 cctttccagc taaatgtttt ccaaacactt gcttttacaa ttgatttttt tttccaattg
     2581 gcagataaaa ttgtatgtat ttaccatgta caacatactg ttttgaagca tatatacatt
     2641 atagaatgac taaatctagc taactgacat atgcctcaca tggttaccat tttgtggtaa
     2701 gaacacttta catccattct cttatttttc aaaattaata gtaatcttgt aattgtaact
     2761 atagttacta tgttgtgcaa taggtctctt gcactaattc ccccttttta actgaaattt
     2821 tgtatccttt gaccaatgtt tctccaacaa ccctagctcc tggtaaccac cattctactc
     2881 tctacttcta tgagatcagc tgtttgtgta tatgtactac attttcttta tccattcaac
     2941 cattgacaga tgcttaggtt gataccatat cctggctatt gtgaataatg ctgcagtgaa
     3001 cctggtagtg cagatatctc tttgacatac tgatttcata tcctttggat ataagcccag
     3061 tattaggatt gctggatcat atgtagttct atttttaact ttttgcagaa actccatact
     3121 gtcttccata atggctgtac taatttacat tcctaccaag aatatgcaag aattcctttt
     3181 tcttcacaat aatgcaagaa atcctttttc ttcacatcct tgccaacact tgttatcttt
     3241 tgtgttattg atagtagcca ttctaacagg tgttaggtgg tatctcgttg ttttaatttg
     3301 catttccctg gtgactgctg atgttgataa ttttttcata tatctgctgg ccatttgcat
     3361 gtcttctttt gagaactgtc ttttcaggtt ctttgcccat ttttaaatgg gttgttttcc
     3421 tgctattgag ttccttatgt attttggata ttaaccccct atcagatcta tagttaatat
     3481 tttttctcca ttctgtaggt tgtctcttca ccctattaat tgtttccttt gctgtgcaga
     3541 agctttttag tttcatgtaa tttcatttct gtacttgtgc ttttgttact gtgcttttga
     3601 gatcgtatcc aaaaaaatca ttgcccagac caatgtcatg gagcattttc tccatgtttt
     3661 cttctgatag tttcaaatca ttgatttatt aagcccaggc cattctactt tcaatcttgt
     3721 ccccttggtg aggatgcatt tgacctttga aaaagctagt ttgaaaaagc tattggccgg
     3781 gcacggtggt tgtaatccta acactttgtg agctgagaca ggcagatcac ttgagctcag
     3841 gagttcaaga ccagcctggg caacatggca aaacctcgtc tctaaataaa aaatacaaaa
     3901 attaaccaag tgtgttgtgc acacctgtag tcccagctac ttgggagact caggctgggg
     3961 aatcacttga acctgtaaag tcacggctgc attgagccaa gatcgtgtca ctacactcca
     4021 gcctgggtga catggcgaga ccttgtgtct cccaaaagaa aaagaaaaga aaagctatta
     4081 aaattggaaa tttattttta agaaaaagga agtctgcttc caaactgcaa gtaactgttt
     4141 tacttacttc tagttatata gatatatagg ctcattataa ataattcaaa caacataaaa
     4201 atctaaaaag gaaggtagtg gtcacctgga attataatac cataaggtaa ccaccactaa
     4261 cattttcatg gtcattcttc atgaatctct tatgatacat ataattttac ataatgggat
     4321 gttcaacaag ctgttgttat aaacacccct ctctttccac attagtacca cattccccag
     4381 tccttacccc tgctgccaca aaccaagtta ttaacctaga ctgtgttctt tcatattgca
     4441 atcctatata tatctatgca gacatatagg ggatgtattt ttattttgca gaactgggat
     4501 atacaaagtt tttaaattat attttgcagt tacagcttat ataaatccct ctctgtcatt
     4561 tgttataaca aagttattct ttttgttaac tgcatcatac tgcattttgt gaatgtcccc
     4621 cagttgtttt cagctggtcc cctgttcaag gctacatgtt tattagtgaa gacttggaac
     4681 tgtactatat ttttcttggt atattttggt gtacaatttg tacaatttag ttgttgaata
     4741 tcatcttttt tttcccctct gaaatgatag tttagctggg tatacgattt ttgggttgta
     4801 gtccttttgt tttgttggtc tatagatatt gtgcccactt ttttctagct tctggtattg
     4861 cagttgagaa ttccaaagcc actttggttt tttttccctt tgtagggaat tcattcgtta
     4921 cagctggaag cttgtaaact gaggtttaaa agaaaaaagt aaaaacttac agtttcttaa
     4981 tctcgtcaag aaatctgatg tcttttttta ttctcttccg tcacttctta gacttcttgg
     5041 gagctctttc aatgaaggtc caaacctttt ctcagctcag gtatattttc ttctaatatt
     5101 tgtctaattg ttgcttctcc tttttccttc ttcttttttg gattatctaa aaattgcatg
     5161 taactgacct ctctatgttt cttcctttct tccctttttt ttttttgaga caaaatctca
     5221 ttctgtcacc cagactagag ggcagtggcg ccatctcagc tcactgcaac ctccgcttcc
     5281 caggttcaag caattttcct gcctcagcct cccaagcagc tgggattaca ggtgcccacc
     5341 accacgcctg gctaattttt tttttttttt tttttttttt tttttagcag aggtggggtt
     5401 tcaccatgtt ggccaggctg gtcttgaact cctgggctct agtgatccac cagcctcggc
     5461 ctcccaaagt gctgggattt acaggcgtga gccaccgtgc cgggcctgac ttcgacttct
     5521 ctttcattgt cttatctttt cgtttctcct tgcccttttt gttttgtttt gtttcaattc
     5581 ttagaactgt agttggcatg tagtaggtgc ttaataatta cttgttttgt tgtttctgtc
     5641 ctatactttg agagtttgtg tttgatattc aaggttacta attcaggcct gactgtgata
     5701 attaggggag acttttgatt attgttttat tcccctcccc accctaaacc cttgttttgt
     5761 tttgttttgt tttgttaagc acttgcaaaa atatagtgga gaaatatggg aggcttccac
     5821 ttgaaacttt ttaataattg tttattcaac tggtatttgt caacccttat tcacattgta
     5881 tatcaatgaa tctattatga aggcagcgat catgtataac ttctctccag tgccttgtac
     5941 attttatatg ttttcctttc acgctgtctt ggctgtcctt tcgtcaccta aggtacttat
     6001 attctgccat atttcaaaga atacttaggc catttgttca cttcactttg attccatttt
     6061 taactagtca ttatggtaca cctatgaaat gcctagtttt aaaaaaatat gtagaaataa
     6121 taaatgcaca ttttattaac atagccataa atctattttt aaccagaagc ctaaaaaatc
     6181 acatcgtaga tcagcttgac ctctctttta aacttgctac catgccttta ctttagaatt
     6241 aagggaacac cttaatagag aaaaaaagtt atcccatgaa ctgaagtgtt ccttgtgtcc
     6301 agtttatact aaaaagcccc atttaaaata gattttaaaa cctttaaaaa attctctaaa
     6361 gacaaaacct taaactgtac caattataat aatagataaa gtaatttcaa aacgaagctc
     6421 ttcagtaaga gacacatagg tttgtagagc tcagtattgg tgagagacac accattagct
     6481 ttattattta aaatcgaaat gagacagtgg tagaaaaata ttgcatcagc aaactaatct
     6541 caattatttt tcaaagcaaa atcactattt cacaatggaa aggaaaacct caaattaggt
     6601 acttaaataa gggctacaca gttttcattc agaaatattt cattactgtt gagtaatata
     6661 ctaatacttt gttatttcta taaaaatgat ataactactg aagactagag aagctaaaga
     6721 cgtttctgtg aattctataa tttttataaa caaatacttt ggtaaatttc cattttttta
     6781 atttaatgtt ttccatgttc aggtgctaat tattgagccc gaactaaaaa acttatcact
     6841 aaagcagtaa acttaaaatc actctaacta tgccagaaat ggaatggcaa gcctagcaca
     6901 attagaatat tgcctgtcga aaaatatagc agggaaagct aattacagaa aggaaaacaa
     6961 tcactttgct ttctattgta atgaatttct ggacatcgga aggttaaatc tagggctcag
     7021 gatagtgcta gttcttctgt tttaattctg gaaaagtatt aaattcaggg aagaaaacta
     7081 acgaagttta atcataaaca ttttttcttc tttgcaaaga atatgtgtgt agttcttaat
     7141 gtgctaccta gaatcactgt tgtaaacctc ctgggtgctt agaattatta caaatcattt
     7201 attataatac aaatttttct atcttgctag ctctatcagc aacatcctca gatacagaag
     7261 gcatacttct tttgctgcca tgtggcttct tgttttttgt ttttattaaa agtaatcaca
     7321 aaaactgcaa ttacttttgc accaacctaa taattagaca attaaaattt caaaggaagg
     7381 gggtaaaatt aaagaactat gttgcgacct ctcttagttc tctgtgtgta ggacttttca
     7441 ggtgcccaat gtcctcttga ctgaccactc ctcatgaaga tactggtaaa ctttgtgcta
     7501 gtggattgat aaccgctctc cgagttcatg ctcttctgag gtctagaaag aaatgggtgt
     7561 ctctgtccca acctggttag ttattctgtc tctaaaaaca caattaagtc aatgttaaga
     7621 ctaagttcat taagctgctc gtgtttttat gccttgacag tttgttaatg gtggttgcat
     7681 aagttttaca gaactagttt cgtcttgttg cccaggctgg agggcaatgg tgtgacctca
     7741 gctcaccgca acctccgcct cctgggttca agcgattctc ctgcctcagc ctcccaagta
     7801 gctgggatta caggcatgcg ccaccatgcc tggcttattt tgtattttta gtagagacag
     7861 ggtttctcca tgttggtctg gctggtctcg aactcctgac ctcaggtgat ctgcccgcct
     7921 tgacctccca aagtgcaggg attacaggca tgagccaccg cggccagcct gtagtcagct
     7981 ctttaaggca acaatttatt ggctcaggtg actggcacaa gccagttttc ttttgttcat
     8041 ttcatccatt gtggcaagga ttagcaacag tactaaatga gagcttgtca acaccttctg
     8101 taaaaacacc accaggagca ggagagctgc ttctcccatg tggctcaaac acttaattcc
     8161 agcttctcta caccctgcat gatggtatca tccactattg tgtaaatctg tatattttct
     8221 aaataaatac actgttcaaa cttatgctaa aacaaagaac attcctaata agtctttgag
     8281 aactgagtta ttaactttta ttgtaatatt ctaatggttt cttacatata tatgcaaaat
     8341 tcagagtatt atggaaaaag ttattagaat aactcagtga tgatcactat ggacattaaa
     8401 gaatggtaag attatttttt tcattgtaat ggctttataa agaaataagg ccaggcgcag
     8461 tggctcacac ctgtaaaccc agcactttgg gcatcagagg caggagaatg gcctgaaccc
     8521 tgaaggcgga ggttgcagtg agccgagatc gccccactgc actccaccct gagtgacaga
     8581 gcaagactct gtctcaaaaa aatgaaaaga aaaagaaata acagtggact ggaaatcaaa
     8641 agtcctgagt ctgtcttagg tcactaccaa ggaaacatat acatttggat attttttttc
     8701 cttctttttt cattggttaa aaatgaagga agggctgggc atggtggctc acgcctataa
     8761 tcccagcact ttgggaggct gaggtggatg gatcacgagg tcaggagatc gagaccatcc
     8821 tggctaacat ggtgaaaccc cgtctttact aaaaatacaa aaaaaaaatt aggcgggcac
     8881 ttgtagtccc agctatttgg gaggctgagg caggagaatg gcgtgaaccc cggaggcagc
     8941 gcttgcagta agccgagatt gcgccactgc actccggcct ggacaagaga gcgagactcc
     9001 atctcaaaaa aaaaaggaag gggacagaaa actggaatag aaaattatta aggttcattc
     9061 ctgctctaaa atcacaaatc atcatatttt ctaaagcatt taaaaatggt atgcataaat
     9121 aattagaggc ttaggttcta aactaattat aattaaagtt cattgaaggc agaggtagag
     9181 tgtcattata aaagttttat gaattgtctt aatactgagt gaacactcaa attctaatgg
     9241 aatgaatttt gcctgaatta cacttttaaa gcaaagtttc catgtgaatt attatggagc
     9301 catcattgat tacctatttg attttgcaag tttattcatt tgtagaacgg gaataaaata
     9361 caccttacaa agttgtaaga ataaatgaaa taaagttctg aaatataaga atca
//
LOCUS       NM_000083               3187 bp    mRNA    linear   PRI 16-MAR-2023
DEFINITION  Homo sapiens chloride voltage-gated channel 1 (CLCN1), transcript
            variant 1, mRNA.
ACCESSION   NM_000083
VERSION     NM_000083.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3187)
  AUTHORS   Vacchiano V, Brugnoni R, Campanale C, Imbrici P, Dinoi G, Canioni E,
            Laghetti P, Saltarella I, Altamura C, Maggi L, Liguori R, Donadio V
            and Desaphy JF.
  TITLE     Coexistence of SCN4A and CLCN1 mutations in a family with atypical
            myotonic features: A clinical and functional study
  JOURNAL   Exp Neurol 362, 114342 (2023)
   PUBMED   36720299
  REMARK    GeneRIF: Coexistence of SCN4A and CLCN1 mutations in a family with
            atypical myotonic features: A clinical and functional study.
REFERENCE   2  (bases 1 to 3187)
  AUTHORS   Meng YX, Yu M, Liu C, Zhang H, Yang Y and Zhang J.
  TITLE     Sequence CLCN1 and SCN4A genes in patients with nondystrophic
            myotonia in Chinese people
  JOURNAL   Medicine (Baltimore) 101 (29), e29591 (2022)
   PUBMED   35866763
  REMARK    GeneRIF: Sequence CLCN1 and SCN4A genes in patients with
            nondystrophic myotonia in Chinese people. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 3187)
  AUTHORS   Liang H, Li N, Yao RE, Yu T, Ding L, Chen J and Wang J.
  TITLE     Clinical and molecular characterization of five Chinese patients
            with autosomal recessive osteopetrosis
  JOURNAL   Mol Genet Genomic Med 9 (11), e1815 (2021)
   PUBMED   34545712
  REMARK    GeneRIF: Clinical and molecular characterization of five Chinese
            patients with autosomal recessive osteopetrosis.
REFERENCE   4  (bases 1 to 3187)
  AUTHORS   Brenes O, Barbieri R, Vasquez M, Vindas-Smith R, Roig J, Romero A,
            Valle GD, Bermudez-Guzman L, Bertelli S, Pusch M and Morales F.
  TITLE     Functional and Structural Characterization of ClC-1 and Nav1.4
            Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone
            and Coexisting in Myotonic Patients
  JOURNAL   Cells 10 (2), 374 (2021)
   PUBMED   33670307
  REMARK    GeneRIF: Functional and Structural Characterization of ClC-1 and
            Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified
            Alone and Coexisting in Myotonic Patients. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 3187)
  AUTHORS   Jehasse K, Jacquerie K, de Froidmont A, Lemoine C, Grisar T, Stouffs
            K, Lakaye B and Seutin V.
  TITLE     Functional analysis of the F337C mutation in the CLCN1 gene
            associated with dominant myotonia congenita reveals an alteration of
            the macroscopic conductance and voltage dependence
  JOURNAL   Mol Genet Genomic Med 9 (2), e1588 (2021)
   PUBMED   33507632
  REMARK    GeneRIF: Functional analysis of the F337C mutation in the CLCN1 gene
            associated with dominant myotonia congenita reveals an alteration of
            the macroscopic conductance and voltage dependence.
REFERENCE   6  (bases 1 to 3187)
  AUTHORS   Lehmann-Horn F, Mailander V, Heine R and George AL.
  TITLE     Myotonia levior is a chloride channel disorder
  JOURNAL   Hum Mol Genet 4 (8), 1397-1402 (1995)
   PUBMED   7581380
REFERENCE   7  (bases 1 to 3187)
  AUTHORS   Hudson AJ, Ebers GC and Bulman DE.
  TITLE     The skeletal muscle sodium and chloride channel diseases
  JOURNAL   Brain 118 (Pt 2), 547-563 (1995)
   PUBMED   7735894
  REMARK    Review article
REFERENCE   8  (bases 1 to 3187)
  AUTHORS   Duno,M. and Vissing,J.
  TITLE     Myotonia Congenita
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301529
REFERENCE   9  (bases 1 to 3187)
  AUTHORS   Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B,
            Lehmann-Horn F, Grzeschik KH and Jentsch TJ.
  TITLE     The skeletal muscle chloride channel in dominant and recessive human
            myotonia
  JOURNAL   Science 257 (5071), 797-800 (1992)
   PUBMED   1379744
REFERENCE   10  (bases 1 to 3187)
  AUTHORS   Isobe,M., Erikson,J., Emanuel,B.S., Nowell,P.C. and Croce,C.M.
  TITLE     Location of gene for beta subunit of human T-cell receptor at band
            7q35, a region prone to rearrangements in T cells
  JOURNAL   Science 228 (4699), 580-582 (1985)
   PUBMED   3983641
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: Z25884.1, BC113495.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2158800,
            SAMN03465413 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000343257.7/ ENSP00000339867.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073342.3 and AC093673.4.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000083.2.
            Summary: The CLCN family of voltage-dependent chloride channel
            genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate
            quite diverse functional characteristics while sharing significant
            sequence homology. The protein encoded by this gene regulates the
            electric excitability of the skeletal muscle membrane. Mutations in
            this gene cause two forms of inherited human muscle disorders:
            recessive generalized myotonia congenita (Becker) and dominant
            myotonia (Thomsen). Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Mar 2012].
            Transcript Variant: This variant (1) encodes the functional
            protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3187
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..3187
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="chloride voltage-gated channel 1"
                     /db_xref="GeneID:1180"
                     /db_xref="HGNC:HGNC:2019"
                     /db_xref="MIM:118425"
     CDS             103..3069
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="clC-1; chloride channel protein, skeletal muscle;
                     chloride channel, voltage-sensitive 1; chloride channel 1,
                     skeletal muscle"
                     /codon_start=1
                     /product="chloride channel protein 1"
                     /protein_id="NP_000074.3"
                     /db_xref="CCDS:CCDS5881.1"
                     /db_xref="GeneID:1180"
                     /db_xref="HGNC:HGNC:2019"
                     /db_xref="MIM:118425"
                     /translation="MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHR
                     LRKDAGPRHNVHPTQIYGHHKEQFSDREQDIGMPKKTGSSSTVDSKDEDHYSKCQDCIH
                     RLGQVVRRKLGEDGIFLVLLGLLMALVSWSMDYVSAKSLQAYKWSYAQMQPSLPLQFLV
                     WVTFPLVLILFSALFCHLISPQAVGSGIPEMKTILRGVVLKEYLTMKAFVAKVVALTAG
                     LGSGIPVGKEGPFVHIASICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFGT
                     PLGGVLFSIEVTSTYFAVRNYWRGFFAATFSAFVFRVLAVWNKDAVTITALFRTNFRMD
                     FPFDLKELPAFAAIGICCGLLGAVFVYLHRQVMLGVRKHKALSQFLAKHRLLYPGIVTF
                     VIASFTFPPGMGQFMAGELMPREAISTLFDNNTWVKHAGDPESLGQSAVWIHPRVNVVI
                     IIFLFFVMKFWMSIVATTMPIPCGGFMPVFVLGAAFGRLVGEIMAMLFPDGILFDDIIY
                     KILPGGYAVIGAAALTGAVSHTVSTAVICFELTGQIAHILPMMVAVILANMVAQSLQPS
                     LYDSIIQVKKLPYLPDLGWNQLSKYTIFVEDIMVRDVKFVSASYTYGELRTLLQTTTVK
                     TLPLVDSKDSMILLGSVERSELQALLQRHLCPERRLRAAQEMARKLSELPYDGKARLAG
                     EGLPGAPPGRPESFAFVDEDEDEDLSGKSELPPSLALHPSTTAPLSPEEPNGPLPGHKQ
                     QPEAPEPAGQRPSIFQSLLHCLLGRARPTKKKTTQDSTDLVDNMSPEEIEAWEQEQLSQ
                     PVCFDSCCIDQSPFQLVEQTTLHKTHTLFSLLGLHLAYVTSMGKLRGVLALEELQKAIE
                     GHTKSGVQLRPPLASFRNTTSTRKSTGAPPSSAENWNLPEDRPGATGTGDVIAASPETP
                     VPSPSPEPPLSLAPGKVEGELEELELVESPGLEEELADILQGPSLRSTDEEDEDELIL"
     misc_feature    295..378
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    457..552
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3);
                     transmembrane region"
     misc_feature    577..639
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3);
                     transmembrane region"
     misc_feature    664..678
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3);
                     Region: Selectivity filter part_1. /evidence=ECO:0000250"
     misc_feature    727..786
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3);
                     transmembrane region"
     misc_feature    787..840
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3);
                     transmembrane region"
     misc_feature    790..804
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3);
                     Region: Selectivity filter part_2. /evidence=ECO:0000250"
     misc_feature    1006..1065
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3);
                     transmembrane region"
     misc_feature    1144..1230
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3);
                     transmembrane region"
     misc_feature    1273..1326
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3);
                     transmembrane region"
     misc_feature    1474..1536
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3);
                     transmembrane region"
     misc_feature    1537..1596
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3);
                     transmembrane region"
     misc_feature    1546..1560
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3);
                     Region: Selectivity filter part_3. /evidence=ECO:0000250"
     misc_feature    1774..1836
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3);
                     transmembrane region"
     misc_feature    2239..2394
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2740..3066
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35523.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2758..2760
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64347; propagated from
                     UniProtKB/Swiss-Prot (P35523.3); phosphorylation site"
     regulatory      3089..3094
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="hexamer: CATAAA"
     polyA_site      3111
                     /gene="CLCN1"
                     /gene_synonym="CLC1"
                     /note="major polyA site"
ORIGIN
        1 agacgccttg gggacagcaa gagcagaggc ttaaggagct acactggggg aaggacaggg
       61 gcaagcaggc caaggcctgg ccggggctcg gggggaggga atatggagca atcccggtca
      121 cagcagcgtg ggggtgaaca aagctggtgg ggtagtgacc cccagtacca gtatatgccc
      181 tttgaacact gcaccagcta cggactgccc tctgagaatg ggggcctcca gcacaggctc
      241 cggaaggatg caggcccccg ccacaacgtc caccccacac agatttatgg ccatcacaaa
      301 gaacaattct cagacaggga gcaggacata gggatgccca agaagacagg ctccagttct
      361 accgtggaca gcaaggatga ggatcactat tctaaatgtc aagattgtat ccaccgcctg
      421 ggacaggtgg tgagaagaaa attaggggaa gacgggatct ttctggtgct tctgggactg
      481 ctgatggctc tggtcagctg gagcatggac tacgtcagtg ccaaaagcct tcaggcctac
      541 aagtggtcct acgcgcagat gcagcccagc cttcctctgc agttcctggt ctgggtcacc
      601 ttcccactag tcctcatcct cttcagcgcc ctcttctgcc acctcatctc tccccaggct
      661 gttggctctg gaatccccga aatgaagaca atacttcgtg gggttgtcct gaaggaatac
      721 ctcacaatga aagcctttgt ggccaaggtt gtcgccctga ctgcgggcct gggcagtggc
      781 atccccgtgg ggaaagaggg ccccttcgtc cacattgcca gcatctgtgc tgctgtcctc
      841 agcaaattca tgtctgtgtt ctgcggggta tatgagcagc catactacta ctctgatatc
      901 ctgacggtgg gctgtgctgt gggagtcggc tgttgttttg ggacaccact tggaggagtg
      961 ctatttagca tcgaggtcac ctccacctac tttgctgttc ggaactactg gagaggattc
     1021 tttgcagcca cgttcagcgc ctttgtgttt cgagtgctgg cagtgtggaa caaggatgct
     1081 gtcaccatca ctgctctgtt cagaaccaat ttccgaatgg atttcccctt tgacctgaag
     1141 gaactaccag cttttgctgc catcgggatt tgctgtgggc tcctgggagc tgtatttgtg
     1201 tatctgcatc gccaagtcat gctcggtgtc cgaaagcaca aggccctcag ccagtttctt
     1261 gctaagcacc gcctgctgta tcctggaatt gttacctttg tcattgcctc attcaccttc
     1321 ccaccaggaa tgggtcaatt catggctgga gagttgatgc cccgcgaagc catcagtact
     1381 ttgtttgaca acaatacatg ggtgaaacac gcgggtgatc ctgagagcct gggccagtca
     1441 gctgtgtgga ttcacccccg ggtcaacgtt gtcatcatca tctttctctt cttcgtcatg
     1501 aagttctgga tgtccatcgt ggccaccact atgcccatac cctgcggagg cttcatgcct
     1561 gtgtttgtgc taggagctgc atttggaagg ctggtaggag aaatcatggc catgctcttt
     1621 cctgatggta ttttgtttga tgacatcatc tacaagatcc tacctggggg ctatgcagta
     1681 attggagcag cagcgctgac tggtgccgtt tcccacacag tctccacagc tgtgatttgc
     1741 ttcgaattaa cgggtcagat tgctcacatc ctgcccatga tggtggctgt tatcttggcc
     1801 aacatggtgg cccagagcct gcagccctct ctctatgaca gcatcatcca ggtcaagaag
     1861 ctaccctact tgcctgacct tggctggaac cagctcagca aatataccat ctttgttgag
     1921 gacatcatgg tacgtgatgt gaagtttgtt tcagcttctt acacatatgg ggagttgcga
     1981 accctgctcc agaccaccac agtcaagact ttaccactgg ttgactcaaa agattcaatg
     2041 atcctgctgg gctcggtgga gcggtcggaa ctgcaggccc tcctgcagcg ccacctgtgt
     2101 cctgagcgca ggctgcgcgc agcccaagag atggcgcgga agttgtcgga gctgccttac
     2161 gacgggaagg cgcggctggc tggggagggg ctccccggcg cgcctccagg ccggcccgag
     2221 tccttcgcct ttgtggatga ggatgaggac gaagacctct ctggcaagag cgagcttcct
     2281 ccttcccttg ctctccaccc ctctactact gcccctctgt ccccagaaga gcccaatggg
     2341 cctctgcctg gccacaaaca gcagccggaa gcaccagagc ctgcaggtca aagaccctcc
     2401 atcttccagt ccctgcttca ctgcttgctg ggcagagctc gccccacaaa gaagaaaaca
     2461 acccaggatt ccacagattt agtggataac atgtcacctg aagagattga ggcctgggag
     2521 caggagcagc tgagccagcc tgtctgtttt gattcctgct gtattgacca gtctcccttc
     2581 cagctggtgg agcagacaac cctgcacaag actcataccc tgttttcact ccttggcctc
     2641 cacctcgctt acgtgaccag catggggaag ctcaggggcg tcctggccct ggaggagcta
     2701 cagaaggcca ttgaggggca caccaagtct ggggtgcagc tccgccctcc ccttgccagc
     2761 ttccggaaca cgacttcaac tcgaaagagt accggggcac ctccatcttc tgcagagaac
     2821 tggaacctgc ctgaggacag gcctggggcc actggaacag gggatgtgat tgctgcctcc
     2881 ccagagaccc ctgtgccatc tccttcccca gagccccctc tctccctggc cccaggcaag
     2941 gtagagggcg agttggagga gctggagctg gtggagagtc cagggctgga agaggagctg
     3001 gccgacatct tgcagggccc cagcctgcga tccacagacg aggaggatga ggatgaactg
     3061 atcctttgac cccctcccac gacctcctca taaagaccgt ggagaggccc agcctgaggg
     3121 tgaacttgtg tggggcaggg tgcgtcctga atgtggcgag gtcatgccaa tgtcgtggcc
     3181 tcttcca
//
LOCUS       NM_000085               2562 bp    mRNA    linear   PRI 17-SEP-2023
DEFINITION  Homo sapiens chloride voltage-gated channel Kb (CLCNKB), transcript
            variant 1, mRNA.
ACCESSION   NM_000085
VERSION     NM_000085.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2562)
  AUTHORS   Tschernoster N, Erger F, Kohl S, Reusch B, Wenzel A, Walsh S, Thiele
            H, Becker C, Franitza M, Bartram MP, Komhoff M, Schumacher L, Kukat
            C, Borodina T, Quedenau C, Nurnberg P, Rinschen MM, Driller JH,
            Pedersen BP, Schlingmann KP, Huttel B, Bockenhauer D, Beck B and
            Altmuller J.
  TITLE     Long-read sequencing identifies a common transposition haplotype
            predisposing for CLCNKB deletions
  JOURNAL   Genome Med 15 (1), 62 (2023)
   PUBMED   37612755
  REMARK    GeneRIF: Long-read sequencing identifies a common transposition
            haplotype predisposing for CLCNKB deletions. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2562)
  AUTHORS   Zhao Q, Xiang Q, Tan Y, Xiao X, Xie H, Wang H, Yang M and Liu S.
  TITLE     A novel CLCNKB variant in a Chinese family with classic Bartter
            syndrome and prenatal genetic diagnosis
  JOURNAL   Mol Genet Genomic Med 10 (10), e2027 (2022)
   PUBMED   35913199
  REMARK    GeneRIF: A novel CLCNKB variant in a Chinese family with classic
            Bartter syndrome and prenatal genetic diagnosis.
REFERENCE   3  (bases 1 to 2562)
  AUTHORS   Mou L and Wu F.
  TITLE     Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred
            Chinese Pedigree
  JOURNAL   Genes (Basel) 12 (3), 369 (2021)
   PUBMED   33807568
  REMARK    GeneRIF: Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in
            an Inbred Chinese Pedigree. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2562)
  AUTHORS   Han Y, Cheng H, Shao S, Lang Y, Zhao X, Lin Y, Wang S, Shi X, Liu Z
            and Shao L.
  TITLE     Thirteen novel CLCNKB variants and genotype/phenotype association
            study in 42 Chinese patients with Bartter syndrome type 3
  JOURNAL   Endocrine 68 (1), 192-202 (2020)
   PUBMED   31834604
  REMARK    GeneRIF: Thirteen novel CLCNKB variants and genotype/phenotype
            association study in 42 Chinese patients with Bartter syndrome type
            3.
REFERENCE   5  (bases 1 to 2562)
  AUTHORS   Bignon Y, Sakhi I, Bitam S, Bakouh N, Keck M, Frachon N, Paulais M,
            Planelles G, Teulon J and Andrini O.
  TITLE     Analysis of CLCNKB mutations at dimer-interface, calcium-binding
            site, and pore reveals a variety of functional alterations in ClC-Kb
            channel leading to Bartter syndrome
  JOURNAL   Hum Mutat 41 (4), 774-785 (2020)
   PUBMED   31803959
  REMARK    GeneRIF: Analysis of CLCNKB mutations at dimer-interface,
            calcium-binding site, and pore reveals a variety of functional
            alterations in ClC-Kb channel leading to Bartter syndrome.
REFERENCE   6  (bases 1 to 2562)
  AUTHORS   Konrad M, Vollmer M, Lemmink HH, VAN DEN Heuvel LPWJ, Jeck N,
            Vargas-Poussou R, Lakings A, Ruf R, Deschenes G, Antignac C,
            Guay-Woodford L, Knoers NVAM, Seyberth HW, Feldmann D and
            Hildebrandt F.
  TITLE     Mutations in the chloride channel gene CLCNKB as a cause of classic
            Bartter syndrome
  JOURNAL   J Am Soc Nephrol 11 (8), 1449-1459 (2000)
   PUBMED   10906158
REFERENCE   7  (bases 1 to 2562)
  AUTHORS   Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E,
            Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A,
            Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Pilz D, Brem
            A, Trachtman H, Griswold W, Richard GA, John E and Lifton RP.
  TITLE     Mutations in the chloride channel gene, CLCNKB, cause Bartter's
            syndrome type III
  JOURNAL   Nat Genet 17 (2), 171-178 (1997)
   PUBMED   9326936
REFERENCE   8  (bases 1 to 2562)
  AUTHORS   Saito-Ohara F, Uchida S, Takeuchi Y, Sasaki S, Hayashi A, Marumo F
            and Ikeuchi T.
  TITLE     Assignment of the genes encoding the human chloride channels, CLCNKA
            and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ
            hybridization
  JOURNAL   Genomics 36 (2), 372-374 (1996)
   PUBMED   8812470
REFERENCE   9  (bases 1 to 2562)
  AUTHORS   Takeuchi Y, Uchida S, Marumo F and Sasaki S.
  TITLE     Cloning, tissue distribution, and intrarenal localization of ClC
            chloride channels in human kidney
  JOURNAL   Kidney Int 48 (5), 1497-1503 (1995)
   PUBMED   8544406
REFERENCE   10  (bases 1 to 2562)
  AUTHORS   Kieferle S, Fong P, Bens M, Vandewalle A and Jentsch TJ.
  TITLE     Two highly homologous members of the ClC chloride channel family in
            both rat and human kidney
  JOURNAL   Proc Natl Acad Sci U S A 91 (15), 6943-6947 (1994)
   PUBMED   8041726
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC033806.1, AK292335.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375679.9/ ENSP00000364831.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355994.11.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 31, 2019 this sequence version replaced NM_000085.4.
            Summary: The protein encoded by this gene is a member of the family
            of voltage-gated chloride channels. Chloride channels have several
            functions, including the regulation of cell volume, membrane
            potential stabilization, signal transduction and transepithelial
            transport. This gene is expressed predominantly in the kidney and
            may be important for renal salt reabsorption. Mutations in this
            gene are associated with autosomal recessive Bartter syndrome type
            3 (BS3). Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Sep 2009].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2562
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     gene            1..2562
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="chloride voltage-gated channel Kb"
                     /db_xref="GeneID:1188"
                     /db_xref="HGNC:HGNC:2027"
                     /db_xref="MIM:602023"
     misc_feature    59..61
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="upstream in-frame stop codon"
     CDS             107..2170
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="isoform 1 is encoded by transcript variant 1;
                     chloride channel protein ClC-Kb; chloride channel, kidney,
                     B; chloride channel, voltage-sensitive Kb"
                     /codon_start=1
                     /product="chloride channel protein ClC-Kb isoform 1"
                     /protein_id="NP_000076.2"
                     /db_xref="CCDS:CCDS168.1"
                     /db_xref="GeneID:1188"
                     /db_xref="HGNC:HGNC:2027"
                     /db_xref="MIM:602023"
                     /translation="MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFR
                     LGEDWYFLMTLGVLMALVSCAMDLAVESVVRAHQWLYREIGDSHLLRYLSWTVYPVALV
                     SFSSGFSQSITPSSGGSGIPEVKTMLAGVVLEDYLDIKNFGAKVVGLSCTLACGSTLFL
                     GKVGPFVHLSVMMAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVATVFAAPFSGVLF
                     SIEVMSSHFSVWDYWRGFFAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLPE
                     IFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRFSSKLLATSKPVYSALATLVLASITY
                     PPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIF
                     GTLAFFLVMKFWMLILATTIPMPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGIT
                     NPIMPGGYALAGAAAFSGAVTHTISTALLAFEVTGQIVHALPVLMAVLAANAIAQSCQP
                     SFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAKDMPLEEVVKVVTSTDV
                     AKYPLVESTESQILVGIVRRAQLVQALKAEPPSWAPGHQQCLQDILAAGCPTEPVTLKL
                     SPETSLHEAHNLFELLNLHSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK"
     misc_feature    257..352
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="propagated from UniProtKB/Swiss-Prot (P51801.3);
                     transmembrane region"
     misc_feature    377..439
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="propagated from UniProtKB/Swiss-Prot (P51801.3);
                     transmembrane region"
     misc_feature    527..586
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="propagated from UniProtKB/Swiss-Prot (P51801.3);
                     transmembrane region"
     misc_feature    587..646
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="propagated from UniProtKB/Swiss-Prot (P51801.3);
                     transmembrane region"
     misc_feature    683..685
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51801.3); glycosylation site"
     misc_feature    812..871
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="propagated from UniProtKB/Swiss-Prot (P51801.3);
                     transmembrane region"
     misc_feature    950..1036
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="propagated from UniProtKB/Swiss-Prot (P51801.3);
                     transmembrane region"
     misc_feature    1079..1132
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="propagated from UniProtKB/Swiss-Prot (P51801.3);
                     transmembrane region"
     misc_feature    1304..1366
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="propagated from UniProtKB/Swiss-Prot (P51801.3);
                     transmembrane region"
     misc_feature    1367..1426
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="propagated from UniProtKB/Swiss-Prot (P51801.3);
                     transmembrane region"
     misc_feature    1604..1666
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="propagated from UniProtKB/Swiss-Prot (P51801.3);
                     transmembrane region"
     regulatory      2544..2549
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="hexamer: AATAAA"
     polyA_site      2562
                     /gene="CLCNKB"
                     /gene_synonym="ClC-K2; ClC-Kb; CLCKB"
                     /note="major polyA site"
ORIGIN
        1 gaggatgttg attgttggaa cacacacctg tccaggtgca ggggagctgg aggctctgtg
       61 agaggagggc cagctcagcc acagcaggag gactgacagg ggcctgatgg aggagtttgt
      121 ggggctgcgt gaaggctcct cagggaaccc tgtgactctg caggagctgt ggggcccctg
      181 tccccgcatc cgccgaggca tccgaggtgg cctggagtgg ctgaagcaga agctcttccg
      241 cctgggcgag gactggtact tcctgatgac cctcggggtg ctcatggccc tggtcagctg
      301 tgccatggac ttggctgttg agagtgtggt ccgagcgcac cagtggctgt acagggagat
      361 tggggacagc cacctgctcc ggtatctctc ctggactgtg taccctgtgg ccctcgtctc
      421 tttctcttca ggcttctctc agagcatcac accctcctct ggaggttctg gaatcccgga
      481 ggtgaagacc atgttggcgg gtgtggtctt ggaggactac ctggatatca agaactttgg
      541 ggccaaagtg gtgggcctct cctgcaccct ggcctgtggc agcaccctct tcctcgggaa
      601 agtgggccct ttcgtgcacc tgtctgtgat gatggctgcc tacctgggcc gtgtgcgcac
      661 cacgaccatc ggggagcctg agaacaagag caagcaaaac gaaatgctgg tggcagcggc
      721 ggcagtgggc gtggccacag tctttgcagc tcccttcagc ggcgtcctgt tcagcatcga
      781 ggtcatgtct tcccacttct ctgtctggga ttactggagg ggcttctttg cggccacctg
      841 cggggccttc atgttccggc tcctggcggt cttcaacagc gagcaggaga ccatcacctc
      901 cctctacaag accagtttcc gggtggacgt tcccttcgac ctgcctgaga tcttcttttt
      961 tgtggcgctg gggggtctct gtggcatcct gggcagcgct tacctcttct gtcagcgaat
     1021 cttctttggc ttcatcagga acaataggtt cagctccaaa ctgctggcca ccagcaagcc
     1081 tgtgtactcc gctctggcca ccttggttct cgcctccatc acctacccac ccagcgccgg
     1141 ccgcttccta gcttctcggc tgtccatgaa gcagcatctg gactcgctgt tcgacaacca
     1201 ctcctgggcg ctgatgaccc agaactccag cccaccctgg cccgaggagc tcgaccccca
     1261 gcacctgtgg tgggaatggt accacccgcg gttcaccatc tttgggaccc ttgccttctt
     1321 cctggttatg aagttctgga tgctgattct ggccaccacc atccccatgc ctgccgggta
     1381 cttcatgccc atctttgtct atggagctgc tatcgggcgc ctctttgggg agactctctc
     1441 ttttatcttc cctgagggca tcgtggctgg agggatcacc aatcccatca tgccaggggg
     1501 gtatgctctg gcaggggctg cagccttctc aggggctgtg acccacacca tctccacggc
     1561 gctgctggcc ttcgaggtga ccggccagat agtgcatgca ctgcccgtgc tgatggcggt
     1621 gctggcagcc aacgccattg cacagagctg ccagccctcc ttctatgatg gcaccgtcat
     1681 tgtcaagaag ctgccatacc tgccacggat tctgggccgc aacatcggtt cccaccgcgt
     1741 gagggtggag cacttcatga accacagcat caccacactg gccaaggaca tgccactgga
     1801 ggaggtggtc aaggttgtga cctccacaga cgtggccaag tatcccctgg tggagagcac
     1861 agagtcccag atcctggtgg gcatagtgcg aagggcccag ctggtgcagg ccctgaaggc
     1921 tgagcctcct tcctgggctc ctggacacca gcagtgtctc caggacatct tggctgcagg
     1981 ctgccccaca gaaccagtga ccctgaagct gtccccagag acttccctgc atgaggcaca
     2041 caacctcttt gagctgttga accttcattc cctctttgtg acgtcgcggg gcagagctgt
     2101 gggctgcgtg tcctgggtgg agatgaagaa agcaatttcc aacctgacaa atccgccagc
     2161 cccaaagtga gccggcccag caagatgaaa cagggcaccc cagctgacct ggtactgagg
     2221 ttgggctgag accctgcttc tcttccccca tcaccacctg cccctccctc cagcccagct
     2281 ccattctttg gcataacagg caactttaac ctagcccaga agaggatggc tcatcctggg
     2341 tgggacgatg gctcctgcct tgaaagacaa aaatcccacc ttgggcagag ctgagtgtga
     2401 gaagatggaa aaccagtatc tgccagttgc tcagtgactg gccatcacat taatgaatga
     2461 tgagattgga gtacactgtc accaagggca ggcacagatg ccttctgggg ttgtctggtt
     2521 cccagtgaga ggctcctgag aaaaataaag ctggttccca ga
//
LOCUS       NM_000088               5914 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens collagen type I alpha 1 chain (COL1A1), mRNA.
ACCESSION   NM_000088
VERSION     NM_000088.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5914)
  AUTHORS   Yamaguti PM, de La Dure-Molla M, Monnot S, Cardozo-Amaya YJ, Baujat
            G, Michot C, Fournier BPJ, Riou MC, Caldas Rosa ECC, Soares de Lima
            Y, Dos Santos PAC, Alcaraz G, Guerra ENS, Castro LC, de Oliveira SF,
            Pogue R, Berdal A, de Paula LM, Mazzeu JF, Cormier-Daire V and
            Acevedo AC.
  TITLE     Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis
            Imperfecta
  JOURNAL   J Dent Res 102 (6), 616-625 (2023)
   PUBMED   36951356
  REMARK    GeneRIF: Unequal Impact of COL1A1 and COL1A2 Variants on
            Dentinogenesis Imperfecta.
REFERENCE   2  (bases 1 to 5914)
  AUTHORS   Venable E, Knight DRT, Thoreson EK and Baudhuin LM.
  TITLE     COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and
            COL1-related overlap disorder
  JOURNAL   Am J Med Genet C Semin Med Genet 193 (2), 147-159 (2023)
   PUBMED   36896471
  REMARK    GeneRIF: COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome
            phenotypes and COL1-related overlap disorder.
REFERENCE   3  (bases 1 to 5914)
  AUTHORS   Boronova I, Mathia M, Macekova S, Bernasovska J and Galova J.
  TITLE     Evaluation of COLIA1 gene rs1107946 polymorphism in relation to bone
            mineral density and fracture risk in Slovak postmenopausal women
  JOURNAL   Cent Eur J Public Health 31 (1), 25-29 (2023)
   PUBMED   37086417
  REMARK    GeneRIF: Evaluation of COLIA1 gene rs1107946 polymorphism in
            relation to bone mineral density and fracture risk in Slovak
            postmenopausal women.
REFERENCE   4  (bases 1 to 5914)
  AUTHORS   Kao YC, Yoshida A, Hsieh TH, Nord KH, Saba KH, Ichikawa H, Tsai JW,
            Huang HY, Chih-Hsueh Chen P, Fletcher CDM and Lee JC.
  TITLE     Identification of COL1A1/2 Mutations and Fusions With Noncoding RNA
            Genes in Bizarre Parosteal Osteochondromatous Proliferation (Nora
            Lesion)
  JOURNAL   Mod Pathol 36 (2), 100011 (2023)
   PUBMED   36853784
  REMARK    GeneRIF: Identification of COL1A1/2 Mutations and Fusions With
            Noncoding RNA Genes in Bizarre Parosteal Osteochondromatous
            Proliferation (Nora Lesion).
REFERENCE   5  (bases 1 to 5914)
  AUTHORS   Guerin,A., Dupuis,L. and Mendoza-Londono,R.
  TITLE     Caffey Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   22855962
REFERENCE   6  (bases 1 to 5914)
  AUTHORS   Steiner,R.D. and Basel,D.
  TITLE     COL1A1/2 Osteogenesis Imperfecta
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301472
REFERENCE   7  (bases 1 to 5914)
  AUTHORS   Malfait,F., Wenstrup,R. and De Paepe,A.
  TITLE     Classic Ehlers-Danlos Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301422
REFERENCE   8  (bases 1 to 5914)
  AUTHORS   Ghebrehiwet B, Peerschke EI, Hong Y, Munoz P and Gorevic PD.
  TITLE     Short amino acid sequences derived from C1q receptor (C1q-R) show
            homology with the alpha chains of fibronectin and vitronectin
            receptors and collagen type IV
  JOURNAL   J Leukoc Biol 51 (6), 546-556 (1992)
   PUBMED   1377218
REFERENCE   9  (bases 1 to 5914)
  AUTHORS   Nusgens BV, Verellen-Dumoulin C, Hermanns-Le T, De Paepe A, Nuytinck
            L, Pierard GE and Lapiere CM.
  TITLE     Evidence for a relationship between Ehlers-Danlos type VII C in
            humans and bovine dermatosparaxis
  JOURNAL   Nat Genet 1 (3), 214-217 (1992)
   PUBMED   1303238
REFERENCE   10  (bases 1 to 5914)
  AUTHORS   Chessler SD and Byers PH.
  TITLE     Defective folding and stable association with protein disulfide
            isomerase/prolyl hydroxylase of type I procollagen with a deletion
            in the pro alpha 2(I) chain that preserves the Gly-X-Y repeat
            pattern
  JOURNAL   J Biol Chem 267 (11), 7751-7757 (1992)
   PUBMED   1339453
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: Z74615.1, AB209597.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000225964.10/ ENSP00000225964.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC015909.14 and AB209597.1.
            On Nov 21, 2019 this sequence version replaced NM_000088.3.
            Summary: This gene encodes the pro-alpha1 chains of type I collagen
            whose triple helix comprises two alpha1 chains and one alpha2
            chain. Type I is a fibril-forming collagen found in most connective
            tissues and is abundant in bone, cornea, dermis and tendon.
            Mutations in this gene are associated with osteogenesis imperfecta
            types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos
            syndrome Classical type, Caffey Disease and idiopathic
            osteoporosis. Reciprocal translocations between chromosomes 17 and
            22, where this gene and the gene for platelet-derived growth factor
            beta are located, are associated with a particular type of skin
            tumor called dermatofibrosarcoma protuberans, resulting from
            unregulated expression of the growth factor. Two transcripts,
            resulting from the use of alternate polyadenylation signals, have
            been identified for this gene. [provided by R. Dalgleish, Feb
            2008].
            Sequence Note: The RefSeq transcript was derived from the reference
            genome assembly. The genomic coordinates were determined from
            alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5914
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     gene            1..5914
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="collagen type I alpha 1 chain"
                     /db_xref="GeneID:1277"
                     /db_xref="HGNC:HGNC:2197"
                     /db_xref="MIM:120150"
     misc_feature    107..109
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="upstream in-frame stop codon"
     CDS             119..4513
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="collagen of skin, tendon and bone, alpha-1 chain;
                     pro-alpha-1 collagen type 1; collagen alpha 1 chain type I;
                     alpha-1 type I collagen; type I proalpha 1; type I
                     procollagen alpha 1 chain; alpha1(I) procollagen; collagen,
                     type I, alpha 1"
                     /codon_start=1
                     /product="collagen alpha-1(I) chain preproprotein"
                     /protein_id="NP_000079.2"
                     /db_xref="CCDS:CCDS11561.1"
                     /db_xref="GeneID:1277"
                     /db_xref="HGNC:HGNC:2197"
                     /db_xref="MIM:120150"
                     /translation="MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGL
                     RYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGECCPVCPDGSESPTD
                     QETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQL
                     SYGYDEKSTGGISVPGPMGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGP
                     PGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGFSGLDGAKGDAG
                     PAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPA
                     GPPGFPGAVGAKGEAGPQGPRGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGA
                     NGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGEPGPVGVQG
                     PPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPA
                     GPKGSPGEAGRPGEAGLPGAKGLTGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQ
                     AGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGERGEQG
                     PAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPA
                     GPRGANGAPGNDGAKGDAGAPGAPGSQGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGA
                     DGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGPAG
                     FAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPPGPIGNVGAPGAKGARGSAGPP
                     GATGFPGAAGRVGPPGPSGNAGPPGPPGPAGKEGGKGPRGETGPAGRPGEVGPPGPPGP
                     AGEKGSPGADGPAGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGEPGKQGPSG
                     ASGERGPPGPMGPPGLAGPPGESGREGAPGAEGSPGRDGSPGAKGDRGETGPAGPPGAP
                     GAPGAPGPVGPAGKSGDRGETGPAGPAGPVGPVGARGPAGPQGPRGDKGETGEQGDRGI
                     KGHRGFSGLQGPPGPPGSPGEQGPSGASGPAGPRGPPGSAGAPGKDGLNGLPGPIGPPG
                     PRGRTGDAGPVGPPGPPGPPGPPGPPSAGFDFSFLPQPPQEKAHDGGRYYRADDANVVR
                     DRDLEVDTTLKSLSQQIENIRSPEGSRKNPARTCRDLKMCHSDWKSGEYWIDPNQGCNL
                     DAIKVFCNMETGETCVYPTQPSVAQKNWYISKNPKDKRHVWFGESMTDGFQFEYGGQGS
                     DPADVAIQLTFLRLMSTEASQNITYHCKNSVAYMDQQTGNLKKALLLQGSNEIEIRAEG
                     NSRFTYSVTVDGCTSHTGAWGKTVIEYKTTKTSRLPIIDVAPLDVGAPDQEFGFDVGPV
                     CFL"
     sig_peptide     119..184
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    410..3760
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="propagated from UniProtKB/Swiss-Prot (P02452.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    599..604
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="Cleavage, by procollagen N-endopeptidase; propagated
                     from UniProtKB/Swiss-Prot (P02452.6); cleavage site"
     mat_peptide     602..3772
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /product="Collagen alpha-1(I) chain. /id=PRO_0000005720"
                     /note="propagated from UniProtKB/Swiss-Prot (P02452.6)"
     misc_feature    602..652
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="propagated from UniProtKB/Swiss-Prot (P02452.6);
                     Region: Nonhelical region (N-terminal)"
     misc_feature    602..604
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="Pyrrolidone carboxylic acid.
                     /evidence=ECO:0000269|PubMed:5529814; propagated from
                     UniProtKB/Swiss-Prot (P02452.6);
                     pyrrolidone-carboxylic-acid site"
     misc_feature    629..631
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P02454; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); phosphorylation site"
     misc_feature    653..3694
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="propagated from UniProtKB/Swiss-Prot (P02452.6);
                     Region: Triple-helical region"
     misc_feature    686..688
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    695..697
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    704..706
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    731..733
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    740..742
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    749..751
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    794..796
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    839..841
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    857..859
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    884..886
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    902..904
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    911..913
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="5-hydroxylysine, alternate.
                     /evidence=ECO:0000269|PubMed:4319110; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    911..913
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="O-linked (Gal...) hydroxylysine, alternate.
                     /evidence=ECO:0000269|PubMed:4319110; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); glycosylation site"
     misc_feature    929..931
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P02454; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); phosphorylation site"
     misc_feature    983..985
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    992..994
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1010..1012
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1037..1039
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1055..1057
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1118..1120
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1145..1147
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1154..1156
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1235..1237
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1244..1246
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1280..1282
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1298..1300
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1325..1327
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1343..1345
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1352..1354
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1397..1399
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1406..1408
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1424..1426
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1433..1435
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1469..1471
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1496..1498
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1541..1543
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1559..1561
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1586..1588
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1604..1606
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1631..1633
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1658..1660
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1685..1687
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1703..1705
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1721..1723
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1748..1750
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1757..1759
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1784..1786
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1811..1813
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1829..1831
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1865..1867
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1892..1894
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1919..1921
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1928..1930
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    1982..1984
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2036..2038
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2054..2056
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2072..2074
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2090..2092
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2108..2110
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2126..2128
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2162..2164
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2189..2191
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2225..2227
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2261..2263
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2270..2272
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2288..2290
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2306..2308
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2333..2335
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2351..2359
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="propagated from UniProtKB/Swiss-Prot (P02452.6);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    2369..2371
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2387..2389
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2432..2434
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2450..2452
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2477..2479
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P02454; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); phosphorylation site"
     misc_feature    2513..2515
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2531..2533
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2540..2542
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2567..2569
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2585..2587
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2639..2641
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2666..2668
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2693..2695
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2702..2704
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2729..2731
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2747..2749
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2771..2773
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="3-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P11087; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2774..2776
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P11087; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2801..2803
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P11087; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2810..2812
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P11087; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2873..2875
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2900..2902
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2927..2929
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2954..2956
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    2975..2980
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="Cleavage, by collagenase. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P02452.6); cleavage
                     site"
     misc_feature    3008..3010
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3035..3037
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3044..3046
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3062..3064
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3107..3109
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3125..3127
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3143..3145
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3170..3172
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3188..3190
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3215..3217
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3251..3253
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3260..3262
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3269..3271
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3395..3403
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="propagated from UniProtKB/Swiss-Prot (P02452.6);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    3404..3406
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3440..3442
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="5-hydroxylysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3440..3442
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="O-linked (Gal...) hydroxylysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); glycosylation site"
     misc_feature    3476..3478
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3485..3487
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3494..3496
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3548..3550
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P02457; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3593..3595
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P11087; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3608..3610
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="3-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P11087; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3611..3613
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P11087; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3653..3655
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="3-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P11087; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3656..3658
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P11087; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3662..3664
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="3-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P11087; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3665..3667
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P11087; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3671..3673
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="3-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P11087; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3674..3676
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P11087; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3683..3685
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P11087; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3692..3694
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P11087; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); hydroxylation site"
     misc_feature    3695..3772
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="propagated from UniProtKB/Swiss-Prot (P02452.6);
                     Region: Nonhelical region (C-terminal)"
     misc_feature    3770..3775
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="Cleavage, by procollagen C-endopeptidase; propagated
                     from UniProtKB/Swiss-Prot (P02452.6); cleavage site"
     misc_feature    4211..4213
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P02452.6); glycosylation site"
     regulatory      5889..5894
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="hexamer: AATAAA"
     polyA_site      5914
                     /gene="COL1A1"
                     /gene_synonym="CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4"
                     /note="major polyA site"
ORIGIN
        1 gcagacggga gtttctcctc ggggtcggag caggaggcac gcggagtgtg aggccacgca
       61 tgagcggacg ctaaccccct ccccagccac aaagagtcta catgtctagg gtctagacat
      121 gttcagcttt gtggacctcc ggctcctgct cctcttagcg gccaccgccc tcctgacgca
      181 cggccaagag gaaggccaag tcgagggcca agacgaagac atcccaccaa tcacctgcgt
      241 acagaacggc ctcaggtacc atgaccgaga cgtgtggaaa cccgagccct gccggatctg
      301 cgtctgcgac aacggcaagg tgttgtgcga tgacgtgatc tgtgacgaga ccaagaactg
      361 ccccggcgcc gaagtccccg agggcgagtg ctgtcccgtc tgccccgacg gctcagagtc
      421 acccaccgac caagaaacca ccggcgtcga gggacccaag ggagacactg gcccccgagg
      481 cccaagggga cccgcaggcc cccctggccg agatggcatc cctggacagc ctggacttcc
      541 cggacccccc ggaccccccg gacctcccgg accccctggc ctcggaggaa actttgctcc
      601 ccagctgtct tatggctatg atgagaaatc aaccggagga atttccgtgc ctggccccat
      661 gggtccctct ggtcctcgtg gtctccctgg cccccctggt gcacctggtc cccaaggctt
      721 ccaaggtccc cctggtgagc ctggcgagcc tggagcttca ggtcccatgg gtccccgagg
      781 tcccccaggt ccccctggaa agaatggaga tgatggggaa gctggaaaac ctggtcgtcc
      841 tggtgagcgt gggcctcctg ggcctcaggg tgctcgagga ttgcccggaa cagctggcct
      901 ccctggaatg aagggacaca gaggtttcag tggtttggat ggtgccaagg gagatgctgg
      961 tcctgctggt cctaagggtg agcctggcag ccctggtgaa aatggagctc ctggtcagat
     1021 gggcccccgt ggcctgcctg gtgagagagg tcgccctgga gcccctggcc ctgctggtgc
     1081 tcgtggaaat gatggtgcta ctggtgctgc cgggccccct ggtcccaccg gccccgctgg
     1141 tcctcctggc ttccctggtg ctgttggtgc taagggtgaa gctggtcccc aagggccccg
     1201 aggctctgaa ggtccccagg gtgtgcgtgg tgagcctggc ccccctggcc ctgctggtgc
     1261 tgctggccct gctggaaacc ctggtgctga tggacagcct ggtgctaaag gtgccaatgg
     1321 tgctcctggt attgctggtg ctcctggctt ccctggtgcc cgaggcccct ctggacccca
     1381 gggccccggc ggccctcctg gtcccaaggg taacagcggt gaacctggtg ctcctggcag
     1441 caaaggagac actggtgcta agggagagcc tggccctgtt ggtgttcaag gaccccctgg
     1501 ccctgctgga gaggaaggaa agcgaggagc tcgaggtgaa cccggaccca ctggcctgcc
     1561 cggaccccct ggcgagcgtg gtggacctgg tagccgtggt ttccctggcg cagatggtgt
     1621 tgctggtccc aagggtcccg ctggtgaacg tggttctcct ggccctgctg gccccaaagg
     1681 atctcctggt gaagctggtc gtcccggtga agctggtctg cctggtgcca agggtctgac
     1741 tggaagccct ggcagccctg gtcctgatgg caaaactggc ccccctggtc ccgccggtca
     1801 agatggtcgc cccggacccc caggcccacc tggtgcccgt ggtcaggctg gtgtgatggg
     1861 attccctgga cctaaaggtg ctgctggaga gcccggcaag gctggagagc gaggtgttcc
     1921 cggaccccct ggcgctgtcg gtcctgctgg caaagatgga gaggctggag ctcagggacc
     1981 ccctggccct gctggtcccg ctggcgagag aggtgaacaa ggccctgctg gctcccccgg
     2041 attccagggt ctccctggtc ctgctggtcc tccaggtgaa gcaggcaaac ctggtgaaca
     2101 gggtgttcct ggagaccttg gcgcccctgg cccctctgga gcaagaggcg agagaggttt
     2161 ccctggcgag cgtggtgtgc aaggtccccc tggtcctgct ggtccccgag gggccaacgg
     2221 tgctcccggc aacgatggtg ctaagggtga tgctggtgcc cctggagctc ccggtagcca
     2281 gggcgcccct ggccttcagg gaatgcctgg tgaacgtggt gcagctggtc ttccagggcc
     2341 taagggtgac agaggtgatg ctggtcccaa aggtgctgat ggctctcctg gcaaagatgg
     2401 cgtccgtggt ctgactggcc ccattggtcc tcctggccct gctggtgccc ctggtgacaa
     2461 gggtgaaagt ggtcccagcg gccctgctgg tcccactgga gctcgtggtg cccccggaga
     2521 ccgtggtgag cctggtcccc ccggccctgc tggctttgct ggcccccctg gtgctgacgg
     2581 ccaacctggt gctaaaggcg aacctggtga tgctggtgct aaaggcgatg ctggtccccc
     2641 tggccctgcc ggacccgctg gaccccctgg ccccattggt aatgttggtg ctcctggagc
     2701 caaaggtgct cgcggcagcg ctggtccccc tggtgctact ggtttccctg gtgctgctgg
     2761 ccgagtcggt cctcctggcc cctctggaaa tgctggaccc cctggccctc ctggtcctgc
     2821 tggcaaagaa ggcggcaaag gtccccgtgg tgagactggc cctgctggac gtcctggtga
     2881 agttggtccc cctggtcccc ctggccctgc tggcgagaaa ggatcccctg gtgctgatgg
     2941 tcctgctggt gctcctggta ctcccgggcc tcaaggtatt gctggacagc gtggtgtggt
     3001 cggcctgcct ggtcagagag gagagagagg cttccctggt cttcctggcc cctctggtga
     3061 acctggcaaa caaggtccct ctggagcaag tggtgaacgt ggtccccctg gtcccatggg
     3121 cccccctgga ttggctggac cccctggtga atctggacgt gagggggctc ctggtgccga
     3181 aggttcccct ggacgagacg gttctcctgg cgccaagggt gaccgtggtg agaccggccc
     3241 cgctggaccc cctggtgctc ctggtgctcc tggtgcccct ggccccgttg gccctgctgg
     3301 caagagtggt gatcgtggtg agactggtcc tgctggtccc gccggtcctg tcggccctgt
     3361 tggcgcccgt ggccccgccg gaccccaagg cccccgtggt gacaagggtg agacaggcga
     3421 acagggcgac agaggcataa agggtcaccg tggcttctct ggcctccagg gtccccctgg
     3481 ccctcctggc tctcctggtg aacaaggtcc ctctggagcc tctggtcctg ctggtccccg
     3541 aggtccccct ggctctgctg gtgctcctgg caaagatgga ctcaacggtc tccctggccc
     3601 cattgggccc cctggtcctc gcggtcgcac tggtgatgct ggtcctgttg gtccccccgg
     3661 ccctcctgga cctcctggtc cccctggtcc tcccagcgct ggtttcgact tcagcttcct
     3721 gccccagcca cctcaagaga aggctcacga tggtggccgc tactaccggg ctgatgatgc
     3781 caatgtggtt cgtgaccgtg acctcgaggt ggacaccacc ctcaagagcc tgagccagca
     3841 gatcgagaac atccggagcc cagagggcag ccgcaagaac cccgcccgca cctgccgtga
     3901 cctcaagatg tgccactctg actggaagag tggagagtac tggattgacc ccaaccaagg
     3961 ctgcaacctg gatgccatca aagtcttctg caacatggag actggtgaga cctgcgtgta
     4021 ccccactcag cccagtgtgg cccagaagaa ctggtacatc agcaagaacc ccaaggacaa
     4081 gaggcatgtc tggttcggcg agagcatgac cgatggattc cagttcgagt atggcggcca
     4141 gggctccgac cctgccgatg tggccatcca gctgaccttc ctgcgcctga tgtccaccga
     4201 ggcctcccag aacatcacct accactgcaa gaacagcgtg gcctacatgg accagcagac
     4261 tggcaacctc aagaaggccc tgctcctcca gggctccaac gagatcgaga tccgcgccga
     4321 gggcaacagc cgcttcacct acagcgtcac tgtcgatggc tgcacgagtc acaccggagc
     4381 ctggggcaag acagtgattg aatacaaaac caccaagacc tcccgcctgc ccatcatcga
     4441 tgtggccccc ttggacgttg gtgccccaga ccaggaattc ggcttcgacg ttggccctgt
     4501 ctgcttcctg taaactccct ccatcccaac ctggctccct cccacccaac caactttccc
     4561 cccaacccgg aaacagacaa gcaacccaaa ctgaaccccc tcaaaagcca aaaaatggga
     4621 gacaatttca catggacttt ggaaaatatt tttttccttt gcattcatct ctcaaactta
     4681 gtttttatct ttgaccaacc gaacatgacc aaaaaccaaa agtgcattca accttaccaa
     4741 aaaaaaaaaa aaaaaaagaa taaataaata actttttaaa aaaggaagct tggtccactt
     4801 gcttgaagac ccatgcgggg gtaagtccct ttctgcccgt tgggcttatg aaaccccaat
     4861 gctgcccttt ctgctccttt ctccacaccc cccttggggc ctcccctcca ctccttccca
     4921 aatctgtctc cccagaagac acaggaaaca atgtattgtc tgcccagcaa tcaaaggcaa
     4981 tgctcaaaca cccaagtggc ccccaccctc agcccgctcc tgcccgccca gcacccccag
     5041 gccctggggg acctggggtt ctcagactgc caaagaagcc ttgccatctg gcgctcccat
     5101 ggctcttgca acatctcccc ttcgtttttg agggggtcat gccgggggag ccaccagccc
     5161 ctcactgggt tcggaggaga gtcaggaagg gccacgacaa agcagaaaca tcggatttgg
     5221 ggaacgcgtg tcaatccctt gtgccgcagg gctgggcggg agagactgtt ctgttccttg
     5281 tgtaactgtg ttgctgaaag actacctcgt tcttgtcttg atgtgtcacc ggggcaactg
     5341 cctgggggcg gggatggggg cagggtggaa gcggctcccc attttatacc aaaggtgcta
     5401 catctatgtg atgggtgggg tggggaggga atcactggtg ctatagaaat tgagatgccc
     5461 ccccaggcca gcaaatgttc ctttttgttc aaagtctatt tttattcctt gatatttttc
     5521 tttttttttt tttttttttg tggatgggga cttgtgaatt tttctaaagg tgctatttaa
     5581 catgggagga gagcgtgtgc ggctccagcc cagcccgctg ctcactttcc accctctctc
     5641 cacctgcctc tggcttctca ggcctctgct ctccgacctc tctcctctga aaccctcctc
     5701 cacagctgca gcccatcctc ccggctccct cctagtctgt cctgcgtcct ctgtccccgg
     5761 gtttcagaga caacttccca aagcacaaag cagtttttcc ccctaggggt gggaggaagc
     5821 aaaagactct gtacctattt tgtatgtgta taataatttg agatgttttt aattattttg
     5881 attgctggaa taaagcatgt ggaaatgacc caaa
//
LOCUS       NM_000089               5072 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens collagen type I alpha 2 chain (COL1A2), mRNA.
ACCESSION   NM_000089
VERSION     NM_000089.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5072)
  AUTHORS   Yao G, Deng L, Long X, Zhou Y and Zhou X.
  TITLE     An integrated bioinformatic investigation of focal adhesion-related
            genes in glioma followed by preliminary validation of COL1A2 in
            tumorigenesis
  JOURNAL   Aging (Albany NY) 15 (13), 6225-6254 (2023)
   PUBMED   37354488
  REMARK    GeneRIF: An integrated bioinformatic investigation of focal
            adhesion-related genes in glioma followed by preliminary validation
            of COL1A2 in tumorigenesis.
REFERENCE   2  (bases 1 to 5072)
  AUTHORS   Yamaguti PM, de La Dure-Molla M, Monnot S, Cardozo-Amaya YJ, Baujat
            G, Michot C, Fournier BPJ, Riou MC, Caldas Rosa ECC, Soares de Lima
            Y, Dos Santos PAC, Alcaraz G, Guerra ENS, Castro LC, de Oliveira SF,
            Pogue R, Berdal A, de Paula LM, Mazzeu JF, Cormier-Daire V and
            Acevedo AC.
  TITLE     Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis
            Imperfecta
  JOURNAL   J Dent Res 102 (6), 616-625 (2023)
   PUBMED   36951356
  REMARK    GeneRIF: Unequal Impact of COL1A1 and COL1A2 Variants on
            Dentinogenesis Imperfecta.
REFERENCE   3  (bases 1 to 5072)
  AUTHORS   Venable E, Knight DRT, Thoreson EK and Baudhuin LM.
  TITLE     COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and
            COL1-related overlap disorder
  JOURNAL   Am J Med Genet C Semin Med Genet 193 (2), 147-159 (2023)
   PUBMED   36896471
  REMARK    GeneRIF: COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome
            phenotypes and COL1-related overlap disorder.
REFERENCE   4  (bases 1 to 5072)
  AUTHORS   Li H, Cao L and Li H.
  TITLE     COL3A1, CXCL8, VCAN, THBS2, and COL1A2 are correlated with the onset
            of biliary atresia
  JOURNAL   Medicine (Baltimore) 102 (11), e33299 (2023)
   PUBMED   36930067
  REMARK    GeneRIF: COL3A1, CXCL8, VCAN, THBS2, and COL1A2 are correlated with
            the onset of biliary atresia.
REFERENCE   5  (bases 1 to 5072)
  AUTHORS   Kao YC, Yoshida A, Hsieh TH, Nord KH, Saba KH, Ichikawa H, Tsai JW,
            Huang HY, Chih-Hsueh Chen P, Fletcher CDM and Lee JC.
  TITLE     Identification of COL1A1/2 Mutations and Fusions With Noncoding RNA
            Genes in Bizarre Parosteal Osteochondromatous Proliferation (Nora
            Lesion)
  JOURNAL   Mod Pathol 36 (2), 100011 (2023)
   PUBMED   36853784
  REMARK    GeneRIF: Identification of COL1A1/2 Mutations and Fusions With
            Noncoding RNA Genes in Bizarre Parosteal Osteochondromatous
            Proliferation (Nora Lesion).
REFERENCE   6  (bases 1 to 5072)
  AUTHORS   Steiner,R.D. and Basel,D.
  TITLE     COL1A1/2 Osteogenesis Imperfecta
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301472
REFERENCE   7  (bases 1 to 5072)
  AUTHORS   Nusgens BV, Verellen-Dumoulin C, Hermanns-Le T, De Paepe A, Nuytinck
            L, Pierard GE and Lapiere CM.
  TITLE     Evidence for a relationship between Ehlers-Danlos type VII C in
            humans and bovine dermatosparaxis
  JOURNAL   Nat Genet 1 (3), 214-217 (1992)
   PUBMED   1303238
REFERENCE   8  (bases 1 to 5072)
  AUTHORS   Chessler SD and Byers PH.
  TITLE     Defective folding and stable association with protein disulfide
            isomerase/prolyl hydroxylase of type I procollagen with a deletion
            in the pro alpha 2(I) chain that preserves the Gly-X-Y repeat
            pattern
  JOURNAL   J Biol Chem 267 (11), 7751-7757 (1992)
   PUBMED   1339453
REFERENCE   9  (bases 1 to 5072)
  AUTHORS   Edwards MJ, Wenstrup RJ, Byers PH and Cohn DH.
  TITLE     Recurrence of lethal osteogenesis imperfecta due to parental
            mosaicism for a mutation in the COL1A2 gene of type I collagen. The
            mosaic parent exhibits phenotypic features of a mild form of the
            disease
  JOURNAL   Hum Mutat 1 (1), 47-54 (1992)
   PUBMED   1301191
REFERENCE   10  (bases 1 to 5072)
  AUTHORS   Bateman JF, Moeller I, Hannagan M, Chan D and Cole WG.
  TITLE     Lethal perinatal osteogenesis imperfecta due to a type I collagen
            alpha 2(I) Gly to Arg substitution detected by chemical cleavage of
            an mRNA:cDNA sequence mismatch
  JOURNAL   Hum Mutat 1 (1), 55-62 (1992)
   PUBMED   1284475
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: Z74616.1, BC054498.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000297268.11/ ENSP00000297268.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AA457209.1, BC042586.1,
            CF125721.1, BC054498.1 and Z74616.1.
            On Aug 31, 2019 this sequence version replaced NM_000089.3.
            Summary: This gene encodes the pro-alpha2 chain of type I collagen
            whose triple helix comprises two alpha1 chains and one alpha2
            chain. Type I is a fibril-forming collagen found in most connective
            tissues and is abundant in bone, cornea, dermis and tendon.
            Mutations in this gene are associated with osteogenesis imperfecta
            types I-IV, Ehlers-Danlos syndrome type VIIB, recessive
            Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and
            atypical Marfan syndrome. Symptoms associated with mutations in
            this gene, however, tend to be less severe than mutations in the
            gene for the alpha1 chain of type I collagen (COL1A1) reflecting
            the different role of alpha2 chains in matrix integrity. Three
            transcripts, resulting from the use of alternate polyadenylation
            signals, have been identified for this gene. [provided by R.
            Dalgleish, Feb 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5072
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.3"
     gene            1..5072
                     /gene="COL1A2"
                     /gene_synonym="EDSARTH2; EDSCV; OI4"
                     /note="collagen type I alpha 2 chain"
                     /db_xref="GeneID:1278"
                     /db_xref="HGNC:HGNC:2198"
                     /db_xref="MIM:120160"
     misc_feature    126..128
                     /gene="COL1A2"
                     /gene_synonym="EDSARTH2; EDSCV; OI4"
                     /note="upstream in-frame stop codon"
     CDS             138..4238
                     /gene="COL1A2"
                     /gene_synonym="EDSARTH2; EDSCV; OI4"
                     /note="collagen alpha-2(I) chain; collagen I, alpha-2
                     polypeptide; collagen of skin, tendon and bone, alpha-2
                     chain; type I procollagen; alpha 2(I)-collagen; alpha-2
                     type I collagen; alpha 2(I) procollagen; alpha 2 type I
                     procollagen; collagen, type I, alpha 2; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="collagen alpha-2(I) chain precursor"
                     /protein_id="NP_000080.2"
                     /db_xref="CCDS:CCDS34682.1"
                     /db_xref="GeneID:1278"
                     /db_xref="HGNC:HGNC:2198"
                     /db_xref="MIM:120160"
                     /translation="MLSFVDTRTLLLLAVTLCLATCQSLQEETVRKGPAGDRGPRGERG
                     PPGPPGRDGEDGPTGPPGPPGPPGPPGLGGNFAAQYDGKGVGLGPGPMGLMGPRGPPGA
                     AGAPGPQGFQGPAGEPGEPGQTGPAGARGPAGPPGKAGEDGHPGKPGRPGERGVVGPQG
                     ARGFPGTPGLPGFKGIRGHNGLDGLKGQPGAPGVKGEPGAPGENGTPGQTGARGLPGER
                     GRVGAPGPAGARGSDGSVGPVGPAGPIGSAGPPGFPGAPGPKGEIGAVGNAGPAGPAGP
                     RGEVGLPGLSGPVGPPGNPGANGLTGAKGAAGLPGVAGAPGLPGPRGIPGPVGAAGATG
                     ARGLVGEPGPAGSKGESGNKGEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGPPGPPGLR
                     GSPGSRGLPGADGRAGVMGPPGSRGASGPAGVRGPNGDAGRPGEPGLMGPRGLPGSPGN
                     IGPAGKEGPVGLPGIDGRPGPIGPAGARGEPGNIGFPGPKGPTGDPGKNGDKGHAGLAG
                     ARGAPGPDGNNGAQGPPGPQGVQGGKGEQGPPGPPGFQGLPGPSGPAGEVGKPGERGLH
                     GEFGLPGPAGPRGERGPPGESGAAGPTGPIGSRGPSGPPGPDGNKGEPGVVGAVGTAGP
                     SGPSGLPGERGAAGIPGGKGEKGEPGLRGEIGNPGRDGARGAPGAVGAPGPAGATGDRG
                     EAGAAGPAGPAGPRGSPGERGEVGPAGPNGFAGPAGAAGQPGAKGERGAKGPKGENGVV
                     GPTGPVGAAGPAGPNGPPGPAGSRGDGGPPGMTGFPGAAGRTGPPGPSGISGPPGPPGP
                     AGKEGLRGPRGDQGPVGRTGEVGAVGPPGFAGEKGPSGEAGTAGPPGTPGPQGLLGAPG
                     ILGLPGSRGERGLPGVAGAVGEPGPLGIAGPPGARGPPGAVGSPGVNGAPGEAGRDGNP
                     GNDGPPGRDGQPGHKGERGYPGNIGPVGAAGAPGPHGPVGPAGKHGNRGETGPSGPVGP
                     AGAVGPRGPSGPQGIRGDKGEPGEKGPRGLPGLKGHNGLQGLPGIAGHHGDQGAPGSVG
                     PAGPRGPAGPSGPAGKDGRTGHPGTVGPAGIRGPQGHQGPAGPPGPPGPPGPPGVSGGG
                     YDFGYDGDFYRADQPRSAPSLRPKDYEVDATLKSLNNQIETLLTPEGSRKNPARTCRDL
                     RLSHPEWSSGYYWIDPNQGCTMDAIKVYCDFSTGETCIRAQPENIPAKNWYRSSKDKKH
                     VWLGETINAGSQFEYNVEGVTSKEMATQLAFMRLLANYASQNITYHCKNSIAYMDEETG
                     NLKKAVILQGSNDVELVAEGNSRFTYTVLVDGCSKKTNEWGKTIIEYKTNKPSRLPFLD
                     IAPLDIGGADQEFFVDIGPVCFK"
     sig_peptide     138..197
                     /gene="COL1A2"
                     /gene_synonym="EDSARTH2; EDSCV; OI4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      4513..4518
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL1A2"
                     /gene_synonym="EDSARTH2; EDSCV; OI4"
                     /note="hexamer: AATAAA"
     polyA_site      4552
                     /gene="COL1A2"
                     /gene_synonym="EDSARTH2; EDSCV; OI4"
                     /note="major polyA site"
     regulatory      5023..5028
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL1A2"
                     /gene_synonym="EDSARTH2; EDSCV; OI4"
                     /note="hexamer: AATAAA"
     polyA_site      5040
                     /gene="COL1A2"
                     /gene_synonym="EDSARTH2; EDSCV; OI4"
     regulatory      5044..5049
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL1A2"
                     /gene_synonym="EDSARTH2; EDSCV; OI4"
                     /note="hexamer: AATAAA"
     polyA_site      5072
                     /gene="COL1A2"
                     /gene_synonym="EDSARTH2; EDSCV; OI4"
ORIGIN
        1 agcaccacgg cagcaggagg tttcggctaa gttggaggta ctggccacga ctgcatgccc
       61 gcgcccgcca ggtgatacct ccgccggtga cccaggggct ctgcgacaca aggagtctgc
      121 atgtctaagt gctagacatg ctcagctttg tggatacgcg gactttgttg ctgcttgcag
      181 taaccttatg cctagcaaca tgccaatctt tacaagagga aactgtaaga aagggcccag
      241 ccggagatag aggaccacgt ggagaaaggg gtccaccagg ccccccaggc agagatggtg
      301 aagatggtcc cacaggccct cctggtccac ctggtcctcc tggcccccct ggtctcggtg
      361 ggaactttgc tgctcagtat gatggaaaag gagttggact tggccctgga ccaatgggct
      421 taatgggacc tagaggccca cctggtgcag ctggagcccc aggccctcaa ggtttccaag
      481 gacctgctgg tgagcctggt gaacctggtc aaactggtcc tgcaggtgct cgtggtccag
      541 ctggccctcc tggcaaggct ggtgaagatg gtcaccctgg aaaacccgga cgacctggtg
      601 agagaggagt tgttggacca cagggtgctc gtggtttccc tggaactcct ggacttcctg
      661 gcttcaaagg cattagggga cacaatggtc tggatggatt gaagggacag cccggtgctc
      721 ctggtgtgaa gggtgaacct ggtgcccctg gtgaaaatgg aactccaggt caaacaggag
      781 cccgtgggct tcctggtgag agaggacgtg ttggtgcccc tggcccagct ggtgcccgtg
      841 gcagtgatgg aagtgtgggt cccgtgggtc ctgctggtcc cattgggtct gctggccctc
      901 caggcttccc aggtgcccct ggccccaagg gtgaaattgg agctgttggt aacgctggtc
      961 ctgctggtcc cgccggtccc cgtggtgaag tgggtcttcc aggcctctcc ggccccgttg
     1021 gacctcctgg taatcctgga gcaaacggcc ttactggtgc caagggtgct gctggccttc
     1081 ccggcgttgc tggggctccc ggcctccctg gaccccgcgg tattcctggc cctgttggtg
     1141 ctgccggtgc tactggtgcc agaggacttg ttggtgagcc tggtccagct ggctccaaag
     1201 gagagagcgg taacaagggt gagcccggct ctgctgggcc ccaaggtcct cctggtccca
     1261 gtggtgaaga aggaaagaga ggccctaatg gggaagctgg atctgccggc cctccaggac
     1321 ctcctgggct gagaggtagt cctggttctc gtggtcttcc tggagctgat ggcagagctg
     1381 gcgtcatggg ccctcctggt agtcgtggtg caagtggccc tgctggagtc cgaggaccta
     1441 atggagatgc tggtcgccct ggggagcctg gtctcatggg acccagaggt cttcctggtt
     1501 cccctggaaa tatcggcccc gctggaaaag aaggtcctgt cggcctccct ggcatcgacg
     1561 gcaggcctgg cccaattggc ccagctggag caagaggaga gcctggcaac attggattcc
     1621 ctggacccaa aggccccact ggtgatcctg gcaaaaacgg tgataaaggt catgctggtc
     1681 ttgctggtgc tcggggtgct ccaggtcctg atggaaacaa tggtgctcag ggacctcctg
     1741 gaccacaggg tgttcaaggt ggaaaaggtg aacagggtcc ccctggtcct ccaggcttcc
     1801 agggtctgcc tggcccctca ggtcccgctg gtgaagttgg caaaccagga gaaaggggtc
     1861 tccatggtga gtttggtctc cctggtcctg ctggtccaag aggggaacgc ggtcccccag
     1921 gtgagagtgg tgctgccggt cctactggtc ctattggaag ccgaggtcct tctggacccc
     1981 cagggcctga tggaaacaag ggtgaacctg gtgtggttgg tgctgtgggc actgctggtc
     2041 catctggtcc tagtggactc ccaggagaga ggggtgctgc tggcatacct ggaggcaagg
     2101 gagaaaaggg tgaacctggt ctcagaggtg aaattggtaa ccctggcaga gatggtgctc
     2161 gtggtgctcc tggtgctgta ggtgcccctg gtcctgctgg agccacaggt gaccggggcg
     2221 aagctggggc tgctggtcct gctggtcctg ctggtcctcg gggaagccct ggtgaacgtg
     2281 gtgaggtcgg tcctgctggc cccaatggat ttgctggtcc tgctggtgct gctggtcaac
     2341 ctggtgctaa aggagaaaga ggagccaaag ggcctaaggg tgaaaacggt gttgttggtc
     2401 ccacaggccc cgttggagct gctggcccag ctggtccaaa tggtcccccc ggtcctgctg
     2461 gaagtcgtgg tgatggaggc ccccctggta tgactggttt ccctggtgct gctggacgga
     2521 ctggtccccc aggaccctct ggtatttctg gccctcctgg tccccctggt cctgctggga
     2581 aagaagggct tcgtggtcct cgtggtgacc aaggtccagt tggccgaact ggagaagtag
     2641 gtgcagttgg tccccctggc ttcgctggtg agaagggtcc ctctggagag gctggtactg
     2701 ctggacctcc tggcactcca ggtcctcagg gtcttcttgg tgctcctggt attctgggtc
     2761 tccctggctc gagaggtgaa cgtggtctac caggtgttgc tggtgctgtg ggtgaacctg
     2821 gtcctcttgg cattgccggc cctcctgggg cccgtggtcc tcctggtgct gtgggtagtc
     2881 ctggagtcaa cggtgctcct ggtgaagctg gtcgtgatgg caaccctggg aacgatggtc
     2941 ccccaggtcg cgatggtcaa cccggacaca agggagagcg cggttaccct ggcaatattg
     3001 gtcccgttgg tgctgcaggt gcacctggtc ctcatggccc cgtgggtcct gctggcaaac
     3061 atggaaaccg tggtgaaact ggtccttctg gtcctgttgg tcctgctggt gctgttggcc
     3121 caagaggtcc tagtggccca caaggcattc gtggcgataa gggagagccc ggtgaaaagg
     3181 ggcccagagg tcttcctggc ttaaagggac acaatggatt gcaaggtctg cctggtatcg
     3241 ctggtcacca tggtgatcaa ggtgctcctg gctccgtggg tcctgctggt cctaggggcc
     3301 ctgctggtcc ttctggccct gctggaaaag atggtcgcac tggacatcct ggtacagttg
     3361 gacctgctgg cattcgaggc cctcagggtc accaaggccc tgctggcccc cctggtcccc
     3421 ctggccctcc tggacctcca ggtgtaagcg gtggtggtta tgactttggt tacgatggag
     3481 acttctacag ggctgaccag cctcgctcag caccttctct cagacccaag gactatgaag
     3541 ttgatgctac tctgaagtct ctcaacaacc agattgagac ccttcttact cctgaaggct
     3601 ctagaaagaa cccagctcgc acatgccgtg acttgagact cagccaccca gagtggagca
     3661 gtggttacta ctggattgac cctaaccaag gatgcactat ggatgctatc aaagtatact
     3721 gtgatttctc tactggcgaa acctgtatcc gggcccaacc tgaaaacatc ccagccaaga
     3781 actggtatag gagctccaag gacaagaaac acgtctggct aggagaaact atcaatgctg
     3841 gcagccagtt tgaatataat gtagaaggag tgacttccaa ggaaatggct acccaacttg
     3901 ccttcatgcg cctgctggcc aactatgcct ctcagaacat cacctaccac tgcaagaaca
     3961 gcattgcata catggatgag gagactggca acctgaaaaa ggctgtcatt ctacagggct
     4021 ctaatgatgt tgaacttgtt gctgagggca acagcaggtt cacttacact gttcttgtag
     4081 atggctgctc taaaaagaca aatgaatggg gaaagacaat cattgaatac aaaacaaata
     4141 agccatcacg cctgcccttc cttgatattg cacctttgga catcggtggt gctgaccagg
     4201 aattctttgt ggacattggc ccagtctgtt tcaaataaat gaactcaatc taaattaaaa
     4261 aagaaagaaa tttgaaaaaa ctttctcttt gccatttctt cttcttcttt tttaactgaa
     4321 agctgaatcc ttccatttct tctgcacatc tacttgctta aattgtgggc aaaagagaaa
     4381 aagaaggatt gatcagagca ttgtgcaata cagtttcatt aactccttcc cccgctcccc
     4441 caaaaatttg aatttttttt tcaacactct tacacctgtt atggaaaatg tcaacctttg
     4501 taagaaaacc aaaataaaaa ttgaaaaata aaaaccataa acatttgcac cacttgtggc
     4561 ttttgaatat cttccacaga gggaagttta aaacccaaac ttccaaaggt ttaaactacc
     4621 tcaaaacact ttcccatgag tgtgatccac attgttaggt gctgacctag acagagatga
     4681 actgaggtcc ttgttttgtt ttgttcataa tacaaaggtg ctaattaata gtatttcaga
     4741 tacttgaaga atgttgatgg tgctagaaga atttgagaag aaatactcct gtattgagtt
     4801 gtatcgtgtg gtgtattttt taaaaaattt gatttagcat tcatattttc catcttattc
     4861 ccaattaaaa gtatgcagat tatttgccca aatcttcttc agattcagca tttgttcttt
     4921 gccagtctca ttttcatctt cttccatggt tccacagaag ctttgtttct tgggcaagca
     4981 gaaaaattaa attgtaccta ttttgtatat gtgagatgtt taaataaatt gtgaaaaaaa
     5041 tgaaataaag catgtttggt tttccaaaag aa
//
LOCUS       NM_000090               5490 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens collagen type III alpha 1 chain (COL3A1), mRNA.
ACCESSION   NM_000090
VERSION     NM_000090.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5490)
  AUTHORS   Heo WY, Jang SY, Park TK, Ki CS, Kim JW, Kim DK and Jang JH.
  TITLE     Identification of two novel COL3A1 variants in patients with
            vascular Ehlers-Danlos syndrome
  JOURNAL   Mol Genet Genomic Med 11 (9), e2240 (2023)
   PUBMED   37461200
  REMARK    GeneRIF: Identification of two novel COL3A1 variants in patients
            with vascular Ehlers-Danlos syndrome.
REFERENCE   2  (bases 1 to 5490)
  AUTHORS   Lui MM, Shadrina M, Gelb BD and Kontorovich AR.
  TITLE     Features of Vascular Ehlers-Danlos Syndrome Among Biobank
            Participants Harboring Predicted High-Risk COL3A1 Genotypes
  JOURNAL   Circ Genom Precis Med 16 (2), e003864 (2023)
   PUBMED   36866665
  REMARK    GeneRIF: Features of Vascular Ehlers-Danlos Syndrome Among Biobank
            Participants Harboring Predicted High-Risk COL3A1 Genotypes.
REFERENCE   3  (bases 1 to 5490)
  AUTHORS   Li H, Cao L and Li H.
  TITLE     COL3A1, CXCL8, VCAN, THBS2, and COL1A2 are correlated with the onset
            of biliary atresia
  JOURNAL   Medicine (Baltimore) 102 (11), e33299 (2023)
   PUBMED   36930067
  REMARK    GeneRIF: COL3A1, CXCL8, VCAN, THBS2, and COL1A2 are correlated with
            the onset of biliary atresia.
REFERENCE   4  (bases 1 to 5490)
  AUTHORS   Wang L, Sun Y, Guo Z and Liu H.
  TITLE     COL3A1 Overexpression Associates with Poor Prognosis and Cisplatin
            Resistance in Lung Cancer
  JOURNAL   Balkan Med J 39 (6), 393-400 (2022)
   PUBMED   36148899
  REMARK    GeneRIF: COL3A1 Overexpression Associates with Poor Prognosis and
            Cisplatin Resistance in Lung Cancer
REFERENCE   5  (bases 1 to 5490)
  AUTHORS   Byers,P.H.
  TITLE     Vascular Ehlers-Danlos Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301667
REFERENCE   6  (bases 1 to 5490)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301533
REFERENCE   7  (bases 1 to 5490)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301299
REFERENCE   8  (bases 1 to 5490)
  AUTHORS   Richards AJ, Ward PN, Narcisi P, Nicholls AC, Lloyd JC and Pope FM.
  TITLE     A single base mutation in the gene for type III collagen (COL3A1)
            converts glycine 847 to glutamic acid in a family with Ehlers-Danlos
            syndrome type IV. An unaffected family member is mosaic for the
            mutation
  JOURNAL   Hum Genet 89 (4), 414-418 (1992)
   PUBMED   1352273
REFERENCE   9  (bases 1 to 5490)
  AUTHORS   Seyer,J.M. and Kang,A.H.
  TITLE     Covalent structure of collagen: amino acid sequence of five
            consecutive CNBr peptides from type III collagen of human liver
  JOURNAL   Biochemistry 17 (16), 3404-3411 (1978)
   PUBMED   687591
REFERENCE   10  (bases 1 to 5490)
  AUTHORS   Seyer,J.M. and Kang,A.H.
  TITLE     Covalent structure of collagen: amino acid sequence of cyanogen
            bromide peptides from the amino-terminal segment of type III
            collagen of human liver
  JOURNAL   Biochemistry 16 (6), 1158-1164 (1977)
   PUBMED   557335
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X14420.1, SRR11853561.17153.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000304636.9/ ENSP00000304408.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC066694.7.
            On Dec 4, 2019 this sequence version replaced NM_000090.3.
            Summary: This gene encodes the pro-alpha1 chains of type III
            collagen, a fibrillar collagen that is found in extensible
            connective tissues such as skin, lung, uterus, intestine and the
            vascular system, frequently in association with type I collagen.
            Mutations in this gene are associated with Ehlers-Danlos syndrome
            type IV, and with aortic and arterial aneurysms. [provided by R.
            Dalgleish, Feb 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5490
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     gene            1..5490
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="collagen type III alpha 1 chain"
                     /db_xref="GeneID:1281"
                     /db_xref="HGNC:HGNC:2201"
                     /db_xref="MIM:120180"
     misc_feature    106..108
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="upstream in-frame stop codon"
     CDS             118..4518
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="Ehlers-Danlos syndrome type IV, autosomal dominant;
                     collagen, type III, alpha 1; collagen, fetal; collagen
                     alpha-1(III) chain; alpha-1 type III collagen; alpha1 (III)
                     collagen"
                     /codon_start=1
                     /product="collagen alpha-1(III) chain preproprotein"
                     /protein_id="NP_000081.2"
                     /db_xref="CCDS:CCDS2297.1"
                     /db_xref="GeneID:1281"
                     /db_xref="HGNC:HGNC:2201"
                     /db_xref="MIM:120180"
                     /translation="MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVW
                     KPEPCQICVCDSGSVLCDDIICDDQELDCPNPEIPFGECCAVCPQPPTAPTRPPNGQGP
                     QGPKGDPGPPGIPGRNGDPGIPGQPGSPGSPGPPGICESCPTGPQNYSPQYDSYDVKSG
                     VAVGGLAGYPGPAGPPGPPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPPGAIG
                     PSGPAGKDGESGRPGRPGERGLPGPPGIKGPAGIPGFPGMKGHRGFDGRNGEKGETGAP
                     GLKGENGLPGENGAPGPMGPRGAPGERGRPGLPGAAGARGNDGARGSDGQPGPPGPPGT
                     AGFPGSPGAKGEVGPAGSPGSNGAPGQRGEPGPQGHAGAQGPPGPPGINGSPGGKGEMG
                     PAGIPGAPGLMGARGPPGPAGANGAPGLRGGAGEPGKNGAKGEPGPRGERGEAGIPGVP
                     GAKGEDGKDGSPGEPGANGLPGAAGERGAPGFRGPAGPNGIPGEKGPAGERGAPGPAGP
                     RGAAGEPGRDGVPGGPGMRGMPGSPGGPGSDGKPGPPGSQGESGRPGPPGPSGPRGQPG
                     VMGFPGPKGNDGAPGKNGERGGPGGPGPQGPPGKNGETGPQGPPGPTGPGGDKGDTGPP
                     GPQGLQGLPGTGGPPGENGKPGEPGPKGDAGAPGAPGGKGDAGAPGERGPPGLAGAPGL
                     RGGAGPPGPEGGKGAAGPPGPPGAAGTPGLQGMPGERGGLGSPGPKGDKGEPGGPGADG
                     VPGKDGPRGPTGPIGPPGPAGQPGDKGEGGAPGLPGIAGPRGSPGERGETGPPGPAGFP
                     GAPGQNGEPGGKGERGAPGEKGEGGPPGVAGPPGGSGPAGPPGPQGVKGERGSPGGPGA
                     AGFPGARGLPGPPGSNGNPGPPGPSGSPGKDGPPGPAGNTGAPGSPGVSGPKGDAGQPG
                     EKGSPGAQGPPGAPGPLGIAGITGARGLAGPPGMPGPRGSPGPQGVKGESGKPGANGLS
                     GERGPPGPQGLPGLAGTAGEPGRDGNPGSDGLPGRDGSPGGKGDRGENGSPGAPGAPGH
                     PGPPGPVGPAGKSGDRGESGPAGPAGAPGPAGSRGAPGPQGPRGDKGETGERGAAGIKG
                     HRGFPGNPGAPGSPGPAGQQGAIGSPGPAGPRGPVGPSGPPGKDGTSGHPGPIGPPGPR
                     GNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGVGAAAIAGIGGEKAGGFAPYYGDEPM
                     DFKINTDEIMTSLKSVNGQIESLISPDGSRKNPARNCRDLKFCHPELKSGEYWVDPNQG
                     CKLDAIKVFCNMETGETCISANPLNVPRKHWWTDSSAEKKHVWFGESMDGGFQFSYGNP
                     ELPEDVLDVHLAFLRLLSSRASQNITYHCKNSIAYMDQASGNVKKALKLMGSNEGEFKA
                     EGNSKFTYTVLEDGCTKHTGEWSKTVFEYRTRKAVRLPIVDIAPYDIGGPDQEFGVDVG
                     PVCFL"
     sig_peptide     118..186
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    400..3699
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="propagated from UniProtKB/Swiss-Prot (P02461.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    562..618
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="propagated from UniProtKB/Swiss-Prot (P02461.4);
                     Region: Nonhelical region (N-terminal)"
     mat_peptide     577..3780
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /product="collagen alpha-1(III) chain"
     misc_feature    619..3705
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="propagated from UniProtKB/Swiss-Prot (P02461.4);
                     Region: Triple-helical region"
     misc_feature    634..636
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    652..654
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    661..663
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    670..672
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    688..690
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    697..699
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    706..708
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    724..726
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    733..735
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    760..762
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    769..771
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    823..825
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    832..834
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    850..852
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    859..861
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    886..888
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    895..897
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    904..906
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="5-hydroxylysine, alternate.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    904..906
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="O-linked (Gal...) hydroxylysine, alternate;
                     propagated from UniProtKB/Swiss-Prot (P02461.4);
                     glycosylation site"
     misc_feature    958..960
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    967..969
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    985..987
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1003..1005
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1030..1032
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1048..1050
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1057..1059
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1111..1113
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1120..1122
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1129..1131
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1147..1149
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1156..1158
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1192..1194
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1210..1212
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1228..1230
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1264..1266
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1273..1275
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1291..1293
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:557335; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1327..1329
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1336..1338
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1363..1365
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1390..1392
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1417..1419
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1444..1446
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1480..1482
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1489..1491
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1525..1527
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1534..1536
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1552..1554
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1579..1581
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1615..1617
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1651..1653
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1687..1689
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1705..1707
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1714..1716
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1732..1734
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1741..1743
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1750..1752
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1768..1770
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1777..1779
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1804..1806
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1813..1815
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1840..1842
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1858..1860
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1885..1887
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1912..1914
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1921..1923
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1939..1941
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    1975..1977
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2020..2022
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2047..2049
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2065..2067
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2083..2085
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2092..2094
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2098..2100
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2119..2121
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2128..2130
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2155..2157
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2173..2175
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2191..2193
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2218..2220
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2224..2226
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2254..2256
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2263..2265
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2281..2283
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:687591; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2299..2301
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2326..2328
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2353..2355
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2362..2364
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2380..2382
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2425..2427
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2443..2445
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2470..2472
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2479..2481
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2506..2508
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2533..2535
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2551..2553
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2560..2562
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2578..2580
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2605..2607
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2632..2634
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2650..2652
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2677..2679
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2695..2697
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2713..2715
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2722..2724
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2740..2742
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2758..2760
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2767..2769
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2785..2787
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2791..2793
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2812..2814
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2830..2832
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2857..2859
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2866..2868
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2902..2904
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2920..2922
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2938..2940
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    2947..2949
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3001..3003
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:6246925; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3010..3012
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3028..3030
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3046..3048
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3064..3066
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3100..3102
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3118..3120
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3145..3147
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3163..3165
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3181..3183
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3199..3201
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3235..3237
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3244..3246
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3253..3255
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3262..3264
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3271..3273
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3343..3345
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3370..3372
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3433..3435
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3451..3453
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3460..3462
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3469..3471
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3478..3480
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3514..3516
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3559..3561
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3586..3588
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3604..3606
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3649..3651
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3658..3660
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3667..3669
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3676..3678
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3685..3687
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3694..3696
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:7016180; propagated from
                     UniProtKB/Swiss-Prot (P02461.4); hydroxylation site"
     misc_feature    3706..3732
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="propagated from UniProtKB/Swiss-Prot (P02461.4);
                     Region: Nonhelical region (C-terminal)"
     regulatory      4773..4778
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="hexamer: AATAAA"
     polyA_site      4802
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="major polyA site"
     regulatory      5468..5473
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
                     /note="hexamer: AATAAA"
     polyA_site      5490
                     /gene="COL3A1"
                     /gene_synonym="EDS4A; EDSVASC; PMGEDSV"
ORIGIN
        1 ggctgagttt tatgacgggc ccggtgctga agggcaggga acaacttgat ggtgctactt
       61 tgaactgctt ttcttttctc ctttttgcac aaagagtctc atgtctgata tttagacatg
      121 atgagctttg tgcaaaaggg gagctggcta cttctcgctc tgcttcatcc cactattatt
      181 ttggcacaac aggaagctgt tgaaggagga tgttcccatc ttggtcagtc ctatgcggat
      241 agagatgtct ggaagccaga accatgccaa atatgtgtct gtgactcagg atccgttctc
      301 tgcgatgaca taatatgtga cgatcaagaa ttagactgcc ccaacccaga aattccattt
      361 ggagaatgtt gtgcagtttg cccacagcct ccaactgctc ctactcgccc tcctaatggt
      421 caaggacctc aaggccccaa gggagatcca ggccctcctg gtattcctgg gagaaatggt
      481 gaccctggta ttccaggaca accagggtcc cctggttctc ctggcccccc tggaatctgt
      541 gaatcatgcc ctactggtcc tcagaactat tctccccagt atgattcata tgatgtcaag
      601 tctggagtag cagtaggagg actcgcaggc tatcctggac cagctggccc cccaggccct
      661 cccggtcccc ctggtacatc tggtcatcct ggttcccctg gatctccagg ataccaagga
      721 ccccctggtg aacctgggca agctggtcct tcaggccctc caggacctcc tggtgctata
      781 ggtccatctg gtcctgctgg aaaagatgga gaatcaggta gacccggacg acctggagag
      841 cgaggattgc ctggacctcc aggtatcaaa ggtccagctg ggatacctgg attccctggt
      901 atgaaaggac acagaggctt cgatggacga aatggagaaa agggtgaaac aggtgctcct
      961 ggattaaagg gtgaaaatgg tcttccaggc gaaaatggag ctcctggacc catgggtcca
     1021 agaggggctc ctggtgagcg aggacggcca ggacttcctg gggctgcagg tgctcggggt
     1081 aatgacggtg ctcgaggcag tgatggtcaa ccaggccctc ctggtcctcc tggaactgcc
     1141 ggattccctg gatcccctgg tgctaagggt gaagttggac ctgcagggtc tcctggttca
     1201 aatggtgccc ctggacaaag aggagaacct ggacctcagg gacacgctgg tgctcaaggt
     1261 cctcctggcc ctcctgggat taatggtagt cctggtggta aaggcgaaat gggtcccgct
     1321 ggcattcctg gagctcctgg actgatggga gcccggggtc ctccaggacc agccggtgct
     1381 aatggtgctc ctggactgcg aggtggtgca ggtgagcctg gtaagaatgg tgccaaagga
     1441 gagcccggac cacgtggtga acgcggtgag gctggtattc caggtgttcc aggagctaaa
     1501 ggcgaagatg gcaaggatgg atcacctgga gaacctggtg caaatgggct tccaggagct
     1561 gcaggagaaa ggggtgcccc tgggttccga ggacctgctg gaccaaatgg catcccagga
     1621 gaaaagggtc ctgctggaga gcgtggtgct ccaggccctg cagggcccag aggagctgct
     1681 ggagaacctg gcagagatgg cgtccctgga ggtccaggaa tgaggggcat gcccggaagt
     1741 ccaggaggac caggaagtga tgggaaacca gggcctcccg gaagtcaagg agaaagtggt
     1801 cgaccaggtc ctcctgggcc atctggtccc cgaggtcagc ctggtgtcat gggcttcccc
     1861 ggtcctaaag gaaatgatgg tgctcctggt aagaatggag aacgaggtgg ccctggagga
     1921 cctggccctc agggtcctcc tggaaagaat ggtgaaactg gacctcaggg acccccaggg
     1981 cctactgggc ctggtggtga caaaggagac acaggacccc ctggtccaca aggattacaa
     2041 ggcttgcctg gtacaggtgg tcctccagga gaaaatggaa aacctgggga accaggtcca
     2101 aagggtgatg ccggtgcacc tggagctcca ggaggcaagg gtgatgctgg tgcccctggt
     2161 gaacgtggac ctcctggatt ggcaggggcc ccaggactta gaggtggagc tggtccccct
     2221 ggtcccgaag gaggaaaggg tgctgctggt cctcctgggc cacctggtgc tgctggtact
     2281 cctggtctgc aaggaatgcc tggagaaaga ggaggtcttg gaagtcctgg tccaaagggt
     2341 gacaagggtg aaccaggcgg tccaggtgct gatggtgtcc cagggaaaga tggcccaagg
     2401 ggtcctactg gtcctattgg tcctcctggc ccagctggcc agcctggaga taagggtgaa
     2461 ggtggtgccc ccggacttcc aggtatagct ggacctcgtg gtagccctgg tgagagaggt
     2521 gaaactggcc ctccaggacc tgctggtttc cctggtgctc ctggacagaa tggtgaacct
     2581 ggtggtaaag gagaaagagg ggctccgggt gagaaaggtg aaggaggccc tcctggagtt
     2641 gcaggacccc ctggaggttc tggacctgct ggtcctcctg gtccccaagg tgtcaaaggt
     2701 gaacgtggca gtcctggtgg acctggtgct gctggcttcc ctggtgctcg tggtcttcct
     2761 ggtcctcctg gtagtaatgg taacccagga cccccaggtc ccagcggttc tccaggcaag
     2821 gatgggcccc caggtcctgc gggtaacact ggtgctcctg gcagccctgg agtgtctgga
     2881 ccaaaaggtg atgctggcca accaggagag aagggatcgc ctggtgccca gggcccacca
     2941 ggagctccag gcccacttgg gattgctggg atcactggag cacggggtct tgcaggacca
     3001 ccaggcatgc caggtcctag gggaagccct ggccctcagg gtgtcaaggg tgaaagtggg
     3061 aaaccaggag ctaacggtct cagtggagaa cgtggtcccc ctggacccca gggtcttcct
     3121 ggtctggctg gtacagctgg tgaacctgga agagatggaa accctggatc agatggtctt
     3181 ccaggccgag atggatctcc tggtggcaag ggtgatcgtg gtgaaaatgg ctctcctggt
     3241 gcccctggcg ctcctggtca tccaggccca cctggtcctg tcggtccagc tggaaagagt
     3301 ggtgacagag gagaaagtgg ccctgctggc cctgctggtg ctcccggtcc tgctggttcc
     3361 cgaggtgctc ctggtcctca aggcccacgt ggtgacaaag gtgaaacagg tgaacgtgga
     3421 gctgctggca tcaaaggaca tcgaggattc cctggtaatc caggtgcccc aggttctcca
     3481 ggccctgctg gtcagcaggg tgcaatcggc agtccaggac ctgcaggccc cagaggacct
     3541 gttggaccca gtggacctcc tggcaaagat ggaaccagtg gacatccagg tcccattgga
     3601 ccaccagggc ctcgaggtaa cagaggtgaa agaggatctg agggctcccc aggccaccca
     3661 gggcaaccag gccctcctgg acctcctggt gcccctggtc cttgctgtgg tggtgttgga
     3721 gccgctgcca ttgctgggat tggaggtgaa aaagctggcg gttttgcccc gtattatgga
     3781 gatgaaccaa tggatttcaa aatcaacacc gatgagatta tgacttcact caagtctgtt
     3841 aatggacaaa tagaaagcct cattagtcct gatggttctc gtaaaaaccc cgctagaaac
     3901 tgcagagacc tgaaattctg ccatcctgaa ctcaagagtg gagaatactg ggttgaccct
     3961 aaccaaggat gcaaattgga tgctatcaag gtattctgta atatggaaac tggggaaaca
     4021 tgcataagtg ccaatccttt gaatgttcca cggaaacact ggtggacaga ttctagtgct
     4081 gagaagaaac acgtttggtt tggagagtcc atggatggtg gttttcagtt tagctacggc
     4141 aatcctgaac ttcctgaaga tgtccttgat gtgcatctgg cattccttcg acttctctcc
     4201 agccgagctt cccagaacat cacatatcac tgcaaaaata gcattgcata catggatcag
     4261 gccagtggaa atgtaaagaa ggccctgaag ctgatggggt caaatgaagg tgaattcaag
     4321 gctgaaggaa atagcaaatt cacctacaca gttctggagg atggttgcac gaaacacact
     4381 ggggaatgga gcaaaacagt ctttgaatat cgaacacgca aggctgtgag actacctatt
     4441 gtagatattg caccctatga cattggtggt cctgatcaag aatttggtgt ggacgttggc
     4501 cctgtttgct ttttataaac caaactctat ctgaaatccc aacaaaaaaa atttaactcc
     4561 atatgtgttc ctcttgttct aatcttgtca accagtgcaa gtgaccgaca aaattccagt
     4621 tatttatttc caaaatgttt ggaaacagta taatttgaca aagaaaaatg atacttctct
     4681 ttttttgctg ttccaccaaa tacaattcaa atgctttttg ttttattttt ttaccaattc
     4741 caatttcaaa atgtctcaat ggtgctataa taaataaact tcaacactct ttatgataac
     4801 aacactgtgt tatattcttt gaatcctagc ccatctgcag agcaatgact gtgctcacca
     4861 gtaaaagata acctttcttt ctgaaatagt caaatacgaa attagaaaag ccctccctat
     4921 tttaactacc tcaactggtc agaaacacag attgtattct atgagtccca gaagatgaaa
     4981 aaaattttat acgttgataa aacttataaa tttcattgat taatctcctg gaagattggt
     5041 ttaaaaagaa aagtgtaatg caagaattta aagaaatatt tttaaagcca caattatttt
     5101 aatattggat atcaactgct tgtaaaggtg ctcctctttt ttcttgtcat tgctggtcaa
     5161 gattactaat atttgggaag gctttaaaga cgcatgttat ggtgctaatg tactttcact
     5221 tttaaactct agatcagaat tgttgacttg cattcagaac ataaatgcac aaaatctgta
     5281 catgtctccc atcagaaaga ttcattggca tgccacaggg gattctcctc cttcatcctg
     5341 taaaggtcaa caataaaaac caaattatgg ggctgctttt gtcacactag catagagaat
     5401 gtgttgaaat ttaactttgt aagcttgtat gtggttgttg atcttttttt tccttacaga
     5461 cacccataat aaaatatcat attaaaattc
//
LOCUS       NM_000091               8038 bp    mRNA    linear   PRI 22-SEP-2023
DEFINITION  Homo sapiens collagen type IV alpha 3 chain (COL4A3), mRNA.
ACCESSION   NM_000091
VERSION     NM_000091.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8038)
  AUTHORS   Yuan X, Su Q, Wang H, Shi S, Liu L, Lv J, Wang S, Zhu L and Zhang H.
  TITLE     Genetic Variants of the COL4A3, COL4A4, and COL4A5 Genes Contribute
            to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA
            Nephropathy Patients
  JOURNAL   J Am Soc Nephrol 34 (1), 132-144 (2023)
   PUBMED   36130833
  REMARK    GeneRIF: Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes
            Contribute to Thinned Glomerular Basement Membrane Lesions in
            Sporadic IgA Nephropathy Patients.
REFERENCE   2  (bases 1 to 8038)
  AUTHORS   Persson U, Hertz JM, Carlsson M, Hellmark T, Juncker I, Wieslander J
            and Segelmark M.
  TITLE     Patients with Goodpasture's disease have two normal COL4A3 alleles
            encoding the NC1 domain of the type IV collagen alpha 3 chain
  JOURNAL   Nephrol Dial Transplant 19 (8), 2030-2035 (2004)
   PUBMED   15199166
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 8038)
  AUTHORS   Badenas C, Praga M, Tazon B, Heidet L, Arrondel C, Armengol A,
            Andres A, Morales E, Camacho JA, Lens X, Davila S, Mila M, Antignac
            C, Darnell A and Torra R.
  TITLE     Mutations in theCOL4A4 and COL4A3 genes cause familial benign
            hematuria
  JOURNAL   J Am Soc Nephrol 13 (5), 1248-1254 (2002)
   PUBMED   11961012
REFERENCE   4  (bases 1 to 8038)
  AUTHORS   Penades JR, Bernal D, Revert F, Johansson C, Fresquet VJ, Cervera J,
            Wieslander J, Quinones S and Saus J.
  TITLE     Characterization and expression of multiple alternatively spliced
            transcripts of the Goodpasture antigen gene region. Goodpasture
            antibodies recognize recombinant proteins representing the
            autoantigen and one of its alternative forms
  JOURNAL   Eur J Biochem 229 (3), 754-760 (1995)
   PUBMED   7758473
REFERENCE   5  (bases 1 to 8038)
  AUTHORS   Lemmink HH, Mochizuki T, van den Heuvel LP, Schroder CH, Barrientos
            A, Monnens LA, van Oost BA, Brunner HG, Reeders ST and Smeets HJ.
  TITLE     Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal
            recessive Alport syndrome
  JOURNAL   Hum Mol Genet 3 (8), 1269-1273 (1994)
   PUBMED   7987301
REFERENCE   6  (bases 1 to 8038)
  AUTHORS   Kalluri R, Gattone VH 2nd, Noelken ME and Hudson BG.
  TITLE     The alpha 3 chain of type IV collagen induces autoimmune Goodpasture
            syndrome
  JOURNAL   Proc Natl Acad Sci U S A 91 (13), 6201-6205 (1994)
   PUBMED   8016138
REFERENCE   7  (bases 1 to 8038)
  AUTHORS   Feng L, Xia Y and Wilson CB.
  TITLE     Alternative splicing of the NC1 domain of the human alpha 3(IV)
            collagen gene. Differential expression of mRNA transcripts that
            predict three protein variants with distinct carboxyl regions
  JOURNAL   J Biol Chem 269 (3), 2342-2348 (1994)
   PUBMED   8294492
REFERENCE   8  (bases 1 to 8038)
  AUTHORS   Bernal D, Quinones S and Saus J.
  TITLE     The human mRNA encoding the Goodpasture antigen is alternatively
            spliced
  JOURNAL   J Biol Chem 268 (16), 12090-12094 (1993)
   PUBMED   8505332
REFERENCE   9  (bases 1 to 8038)
  AUTHORS   Kashtan,C.E.
  TITLE     Alport Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301386
REFERENCE   10  (bases 1 to 8038)
  AUTHORS   Turner N, Mason PJ, Brown R, Fox M, Povey S, Rees A and Pusey CD.
  TITLE     Molecular cloning of the human Goodpasture antigen demonstrates it
            to be the alpha 3 chain of type IV collagen
  JOURNAL   J Clin Invest 89 (2), 592-601 (1992)
   PUBMED   1737849
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X80031.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2142363 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396578.8/ ENSP00000379823.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X80031.1, AU099354.1,
            AC107069.5, CD675393.1, AC097662.5, BM712932.1 and BM670570.1.
            On Aug 31, 2019 this sequence version replaced NM_000091.4.
            Summary: Type IV collagen, the major structural component of
            basement membranes, is a multimeric protein composed of 3 alpha
            subunits. These subunits are encoded by 6 different genes, alpha 1
            through alpha 6, each of which can form a triple helix structure
            with 2 other subunits to form type IV collagen. This gene encodes
            alpha 3. In the Goodpasture syndrome, autoantibodies bind to the
            collagen molecules in the basement membranes of alveoli and
            glomeruli. The epitopes that elicit these autoantibodies are
            localized largely to the non-collagenous C-terminal domain of the
            protein. A specific kinase phosphorylates amino acids in this same
            C-terminal region and the expression of this kinase is upregulated
            during pathogenesis. This gene is also linked to an autosomal
            recessive form of Alport syndrome. The mutations contributing to
            this syndrome are also located within the exons that encode this
            C-terminal region. Like the other members of the type IV collagen
            gene family, this gene is organized in a head-to-head conformation
            with another type IV collagen gene so that each gene pair shares a
            common promoter. [provided by RefSeq, Jun 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..8038
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q36.3"
     gene            1..8038
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="collagen type IV alpha 3 chain"
                     /db_xref="GeneID:1285"
                     /db_xref="HGNC:HGNC:2204"
                     /db_xref="MIM:120070"
     misc_feature    53..55
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="upstream in-frame stop codon"
     CDS             104..5116
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="collagen alpha-3(IV) chain; collagen IV, alpha-3
                     polypeptide; tumstatin; collagen, type IV, alpha 3
                     (Goodpasture antigen)"
                     /codon_start=1
                     /product="collagen alpha-3(IV) chain precursor"
                     /protein_id="NP_000082.2"
                     /db_xref="CCDS:CCDS42829.1"
                     /db_xref="GeneID:1285"
                     /db_xref="HGNC:HGNC:2204"
                     /db_xref="MIM:120070"
                     /translation="MSARTAPRPQVLLLPLLLVLLAAAPAASKGCVCKDKGQCFCDGAK
                     GEKGEKGFPGPPGSPGQKGFTGPEGLPGPQGPKGFPGLPGLTGSKGVRGISGLPGFSGS
                     PGLPGTPGNTGPYGLVGVPGCSGSKGEQGFPGLPGTLGYPGIPGAAGLKGQKGAPAKEE
                     DIELDAKGDPGLPGAPGPQGLPGPPGFPGPVGPPGPPGFFGFPGAMGPRGPKGHMGERV
                     IGHKGERGVKGLTGPPGPPGTVIVTLTGPDNRTDLKGEKGDKGAMGEPGPPGPSGLPGE
                     SYGSEKGAPGDPGLQGKPGKDGVPGFPGSEGVKGNRGFPGLMGEDGIKGQKGDIGPPGF
                     RGPTEYYDTYQEKGDEGTPGPPGPRGARGPQGPSGPPGVPGSPGSSRPGLRGAPGWPGL
                     KGSKGERGRPGKDAMGTPGSPGCAGSPGLPGSPGPPGPPGDIVFRKGPPGDHGLPGYLG
                     SPGIPGVDGPKGEPGLLCTQCPYIPGPPGLPGLPGLHGVKGIPGRQGAAGLKGSPGSPG
                     NTGLPGFPGFPGAQGDPGLKGEKGETLQPEGQVGVPGDPGLRGQPGRKGLDGIPGTPGV
                     KGLPGPKGELALSGEKGDQGPPGDPGSPGSPGPAGPAGPPGYGPQGEPGLQGTQGVPGA
                     PGPPGEAGPRGELSVSTPVPGPPGPPGPPGHPGPQGPPGIPGSLGKCGDPGLPGPDGEP
                     GIPGIGFPGPPGPKGDQGFPGTKGSLGCPGKMGEPGLPGKPGLPGAKGEPAVAMPGGPG
                     TPGFPGERGNSGEHGEIGLPGLPGLPGTPGNEGLDGPRGDPGQPGPPGEQGPPGRCIEG
                     PRGAQGLPGLNGLKGQQGRRGKTGPKGDPGIPGLDRSGFPGETGSPGIPGHQGEMGPLG
                     QRGYPGNPGILGPPGEDGVIGMMGFPGAIGPPGPPGNPGTPGQRGSPGIPGVKGQRGTP
                     GAKGEQGDKGNPGPSEISHVIGDKGEPGLKGFAGNPGEKGNRGVPGMPGLKGLKGLPGP
                     AGPPGPRGDLGSTGNPGEPGLRGIPGSMGNMGMPGSKGKRGTLGFPGRAGRPGLPGIHG
                     LQGDKGEPGYSEGTRPGPPGPTGDPGLPGDMGKKGEMGQPGPPGHLGPAGPEGAPGSPG
                     SPGLPGKPGPHGDLGFKGIKGLLGPPGIRGPPGLPGFPGSPGPMGIRGDQGRDGIPGPA
                     GEKGETGLLRAPPGPRGNPGAQGAKGDRGAPGFPGLPGRKGAMGDAGPRGPTGIEGFPG
                     PPGLPGAIIPGQTGNRGPPGSRGSPGAPGPPGPPGSHVIGIKGDKGSMGHPGPKGPPGT
                     AGDMGPPGRLGAPGTPGLPGPRGDPGFQGFPGVKGEKGNPGFLGSIGPPGPIGPKGPPG
                     VRGDPGTLKIISLPGSPGPPGTPGEPGMQGEPGPPGPPGNLGPCGPRGKPGKDGKPGTP
                     GPAGEKGNKGSKGEPGPAGSDGLPGLKGKRGDSGSPATWTTRGFVFTRHSQTTAIPSCP
                     EGTVPLYSGFSFLFVQGNQRAHGQDLGTLGSCLQRFTTMPFLFCNVNDVCNFASRNDYS
                     YWLSTPALMPMNMAPITGRALEPYISRCTVCEGPAIAIAVHSQTTDIPPCPHGWISLWK
                     GFSFIMFTSAGSEGTGQALASPGSCLEEFRASPFLECHGRGTCNYYSNSYSFWLASLNP
                     ERMFRKPIPSTVKAGELEKIISRCQVCMKKRH"
     sig_peptide     104..187
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     188..5113
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /product="collagen alpha-3(IV) chain"
     misc_feature    188..229
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01955.3);
                     Region: 7S domain"
     misc_feature    230..4417
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01955.3);
                     Region: Triple-helical region"
     misc_feature    248..337
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01955.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    602..1510
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01955.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    860..862
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q01955.3); glycosylation site"
     misc_feature    1607..4429
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01955.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2474..2482
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01955.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    3089..3097
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01955.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    3563..3571
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01955.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    4019..4027
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01955.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    4136..4144
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01955.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    4379..4384
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="Cleavage, by collagenase. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q01955.3); cleavage
                     site"
     misc_feature    4382..4435
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01955.3);
                     Region: Epitope recognized by Goodpasture antibodies"
     misc_feature    4397..4405
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01955.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    4538..4774
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01955.3);
                     Region: Required for the anti-angiogenic activity of
                     tumstatin"
     misc_feature    4931..4987
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01955.3);
                     Region: Required for the anti-tumor cell activity of
                     tumstatin"
     regulatory      8017..8022
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="hexamer: AATAAA"
     polyA_site      8038
                     /gene="COL4A3"
                     /gene_synonym="ATS2; ATS3; BFH2"
                     /note="major polyA site"
ORIGIN
        1 gagctttcca gccgggctcc cagagccgcg ctgcgcagga gacgcggtgg cctgagagcc
       61 tgagggtccc cggactcgcc caggctctga gcgcgcgccc accatgagcg cccggaccgc
      121 ccccaggccg caggtgctcc tgctgccgct cctgctggtg ctcctggcgg cggcgcccgc
      181 agccagcaag ggttgtgtct gtaaagacaa aggccagtgc ttctgtgacg gggccaaagg
      241 ggagaagggg gagaagggct ttcctggacc ccccggttct cctggccaga aaggattcac
      301 aggtcctgaa ggcttgcctg gaccgcaggg acccaagggc tttccaggac ttccaggact
      361 cacgggttcc aaaggtgtaa ggggaataag tggattgcca ggattttctg gttctcctgg
      421 acttccaggc accccaggca ataccgggcc ttacggactt gtcggtgtac caggatgcag
      481 tggttctaag ggtgagcagg ggtttccagg actcccaggg acactgggct acccagggat
      541 cccgggtgct gctggtttga aaggacaaaa gggtgctcct gctaaagaag aagatataga
      601 acttgatgca aaaggcgacc ccgggttgcc aggggctcca ggaccccagg gtttgccagg
      661 ccctccaggt tttcctgggc ctgttggccc acctggtcct ccgggattct ttggctttcc
      721 aggagccatg ggacctagag gacctaaggg tcacatgggt gaaagagtga taggacataa
      781 aggagagcgg ggtgtgaaag ggttaacagg acccccggga ccaccaggaa cagttattgt
      841 gaccctaact ggcccagata acagaacgga cctcaagggg gaaaagggag acaagggagc
      901 aatgggcgag cctggacctc ctggaccctc aggactgcct ggagaatcat atggatctga
      961 aaagggtgct cctggagacc ctggcctgca gggaaaaccc ggaaaagatg gtgttcctgg
     1021 cttccctgga agtgagggag tcaagggcaa caggggtttc cctgggttaa tgggtgaaga
     1081 tggcattaag ggacagaaag gggacattgg ccctccagga tttcgtggtc caacagaata
     1141 ttatgacaca taccaggaaa agggagatga aggcactcca ggcccaccag ggcccagagg
     1201 agctcgtggc ccacaaggtc ccagtggtcc ccccggagtt cctggaagtc ctggatcatc
     1261 aaggcctggc ctcagaggag cccctggatg gccaggcctg aaaggaagta aaggggaacg
     1321 aggccgccca ggaaaggatg ccatggggac tcctgggtcc ccaggttgtg ctggttcacc
     1381 aggtcttcca ggatcaccgg gacctccagg accgccaggt gacatcgttt ttcgcaaggg
     1441 tccacctgga gatcacggac tgccaggcta tctagggtct ccaggaatcc caggagttga
     1501 tgggcccaaa ggagaaccag gcctcctgtg tacacagtgc ccttatatcc cagggcctcc
     1561 cggtctccca ggattgccag ggttacatgg tgtaaaagga atcccaggaa gacaaggcgc
     1621 agctggcttg aaaggaagcc cagggtcccc aggaaataca ggtcttccag gatttccagg
     1681 tttcccaggt gcccagggtg acccaggact taaaggagaa aaaggtgaaa cacttcagcc
     1741 tgaggggcaa gtgggtgtcc caggtgaccc ggggctcaga ggccaacctg ggagaaaggg
     1801 cttggatgga attcctggaa ctccgggagt gaaaggatta ccaggaccta aaggcgaact
     1861 ggctctgagt ggtgagaaag gggaccaagg tcctccaggg gatcctggct cccctgggtc
     1921 cccaggacct gcaggaccag ctggaccacc tggctacgga ccccaaggag aacctggtct
     1981 ccagggcacg caaggagttc ctggagcccc cggaccaccc ggagaagccg gccctagggg
     2041 agagctcagt gtttcaacac cagttccagg cccaccagga cctccagggc cccctggcca
     2101 tcctggcccc caaggtccac ctggtatccc tggatccctg gggaaatgtg gagatcctgg
     2161 tcttccaggg cctgatggtg aaccaggaat tccaggaatt ggatttcctg ggcctcctgg
     2221 acctaaggga gaccaaggtt ttccaggtac aaaaggatca ctgggttgtc ctggaaaaat
     2281 gggagagcct gggttacctg gaaagccagg cctcccagga gccaagggag aaccagcagt
     2341 agccatgcct ggaggaccag gaacaccagg ttttccagga gaaagaggca attctgggga
     2401 acatggagaa attggactcc ctggacttcc aggtctccct ggaactccag gaaatgaagg
     2461 gcttgatgga ccacgaggag atccagggca gcctggacca cctggagaac aaggaccccc
     2521 aggaaggtgc atagagggtc ccaggggagc ccaaggactt ccaggcttaa atggattgaa
     2581 agggcaacaa ggcagaagag gtaaaacggg gccaaaggga gacccaggaa ttccaggctt
     2641 ggatagatca ggatttcctg gagaaactgg atcaccagga attccaggtc atcaaggtga
     2701 aatgggacca ctgggtcaaa gaggatatcc aggaaatccg ggaattttag ggccaccagg
     2761 tgaagatgga gtgattggga tgatgggctt tcctggagcc attggccctc cagggccccc
     2821 tgggaaccca ggcacaccag ggcagagggg gagccctgga attccaggag taaagggcca
     2881 gagaggaacc ccaggagcca agggggaaca aggagataaa ggaaatcccg ggccttcaga
     2941 gatatcccac gtaatagggg acaaaggaga accaggtctc aaaggattcg caggaaatcc
     3001 aggtgagaaa ggaaacagag gcgttccagg gatgccaggt ttaaagggcc tcaaaggact
     3061 acccggacca gcaggaccac caggccccag aggagatttg ggcagcactg ggaatcctgg
     3121 agaaccagga ctgcgtggta taccaggaag catggggaac atgggcatgc caggttctaa
     3181 aggaaaaagg ggaactttgg gattcccagg tcgagcagga agaccaggcc tcccaggtat
     3241 tcatggtctc cagggagata agggagagcc aggttattca gaaggtacaa ggccaggacc
     3301 accgggacca acgggggatc caggactgcc gggtgatatg ggaaagaaag gagaaatggg
     3361 gcaacctggc ccacctggac atttggggcc tgctggacct gagggagccc ctggaagtcc
     3421 tggaagtcct ggcctcccag gaaagccagg tcctcatggt gatttgggtt ttaaaggaat
     3481 caaaggcctc ctgggccctc caggaatcag aggccctcca ggtcttccag gatttccagg
     3541 atctcctgga ccaatgggta taagaggtga ccaaggacgt gatggaattc ctggtccagc
     3601 cggagaaaag ggagaaacgg gtttattgag ggcccctcca ggcccaagag ggaaccctgg
     3661 tgctcaagga gccaaaggag acaggggagc cccaggtttt cctggcctcc cgggcagaaa
     3721 aggggccatg ggagatgctg gacctcgagg acccacaggc atagaaggat tcccagggcc
     3781 accaggtctg cccggtgcaa ttatccctgg ccagacagga aatcgtggtc caccaggctc
     3841 aagaggaagc ccaggtgcgc ctggtccccc tggacctcca gggagtcatg taataggcat
     3901 aaaaggagac aaagggtcta tgggccaccc tggcccaaaa ggtccacctg gaactgcagg
     3961 agacatggga ccaccaggtc gtctgggagc accaggtact ccaggtcttc caggacccag
     4021 aggtgatcct ggattccagg ggtttccagg cgtgaaagga gaaaagggta atcctggatt
     4081 tctaggatcc attggacctc caggaccaat tgggccaaaa ggaccacctg gtgtacgtgg
     4141 agaccctggc acacttaaga ttatctccct tccaggaagc ccagggccac ctggcacacc
     4201 tggagaacca gggatgcagg gagaacctgg gccaccaggg ccacctggaa acctaggacc
     4261 ctgtgggcca agaggtaagc caggcaagga tggaaaacca ggaactcctg gaccagctgg
     4321 agaaaaaggc aacaaaggtt ctaaaggaga gccaggacca gctggatcag atggattgcc
     4381 aggtttgaaa ggaaaacgtg gagacagtgg atcacctgca acctggacaa cgagaggctt
     4441 tgtcttcacc cgacacagtc aaaccacagc aattccttca tgtccagagg ggacagtgcc
     4501 actctacagt gggttttctt ttctttttgt acaaggaaat caacgagccc acggacaaga
     4561 ccttggaact cttggcagct gcctgcagcg atttaccaca atgccattct tattctgcaa
     4621 tgtcaatgat gtatgtaatt ttgcatctcg aaatgattat tcatactggc tgtcaacacc
     4681 agctctgatg ccaatgaaca tggctcccat tactggcaga gcccttgagc cttatataag
     4741 cagatgcact gtttgtgaag gtcctgcgat cgccatagcc gttcacagcc aaaccactga
     4801 cattcctcca tgtcctcacg gctggatttc tctctggaaa ggattttcat tcatcatgtt
     4861 cacaagtgca ggttctgagg gcaccgggca agcactggcc tcccctggct cctgcctgga
     4921 agaattccga gccagcccat ttctagaatg tcatggaaga ggaacgtgca actactattc
     4981 aaattcctac agtttctggc tggcttcatt aaacccagaa agaatgttca gaaagcctat
     5041 tccatcaact gtgaaagctg gggaattaga aaaaataata agtcgctgtc aggtgtgcat
     5101 gaagaaaaga cactgaagct aaaaaagaca gcagaactgc tatttttcat cctaaagaac
     5161 aaagtaatga cagaacatgc tgttatttag gtatttttct ttaaccaaac aatattgctc
     5221 catgatgact tagtacaaag tttcaatttg tttccccaca aaacaaagca attctttcaa
     5281 gtcagttctg tgatctgggt ctctaatctg tgctgtttca aagttctctg tggcaaagca
     5341 gcaactattc acaaaatatc accaaaaacc tattccactt acatccaagg cactgtcact
     5401 acggtgattg tatgaagttt gaatgctgca agttatgaaa tatttggccc gctggattcc
     5461 cacatttgtc ttctttctgt ctttaagact cagggaggct aaatcagtgt ttgattgccc
     5521 cgccaaccct tcctgaaact tcagaccctg ggtaggggaa gagaaggggg catgtggtat
     5581 cctggagcat tgtgtataga actggatttt cagacctgct gaggaccgta aggcctgatg
     5641 gaacacagaa ctgaactgag gttcatggat tttccaggac tgtttcaaac atgcccatta
     5701 ctaacggcaa aagggggatt ccctgatgga accataatac ccttggaaat actgtatggt
     5761 tttgttttgt tttgttggtt tttaaagatt tttgtttgtt tattgaattc atttcactgt
     5821 agctctaaaa tctgcttgta ttccaagcat ataaaatttt cccccttagt gaattagttt
     5881 taaaatgata ttgttatata catactatga aatatgtata actttaactt ctgttttacc
     5941 agcataccca cacaaataac aagaatacta cttatgaaat gtgcacttta tcctcattcc
     6001 ataaatgtcg gtgcatacct tatgtaaggg agcagttcaa taatccatga aagaacttaa
     6061 ggcatttgtt ggtttatcag actcggaatc tattttctca ttgctctgaa tatgtcatca
     6121 ctctaggttt tacagattta ttcctttgtt acttctctaa ttcttccttt gtaaaaaaaa
     6181 aaaaaagcaa cactttttat gttatatgtt gttcttacaa accatactga aagagtccat
     6241 tgtttaaaaa tcttaatgta tcaaactgta taacttggcc gctgtatgtc ttaaaacctg
     6301 cttttcaatg tgttgataca ttcccaaggt tacttaattc aacttaacta tcatcttatt
     6361 cagcaccaag catgtcccag gcactgtact aacctacaga gatgctaaga gaaaaaaaag
     6421 acttgtttct gatctaatat cccagaaaaa gtaactcatt gctctgttaa taatctcaca
     6481 tatacaagta gcttccctcc cctctagttt tttcttcctt ttcactgctg ttatatttca
     6541 tcatgataat tcagcaggcc caagtaaagg ttaaaaataa ggtctatgcc tagggaaact
     6601 cagggcttct agtttctctt agaaaagcta agagaagata aggtctgaat aatagcagaa
     6661 aaaccaacat ctacaaaaca ttaaactagt gttatacttg atgataacac tatttgatga
     6721 gtcttagagt ccagacacaa agagacaaag ctttgaagat gctttttgat ctacctaggt
     6781 ggagttggtg gtgctgatat ttaaattcag gctactgctt caatctcaat tgctttgtaa
     6841 gtgaaaaaca tgacccagag gacagcacag actatggcca tggctcacat ggtttacatc
     6901 cttcactgct cacgtgtttg ctgtcaagcc atttttacat ctaaactaag atgtgcagca
     6961 tttcacttat ttagattcac ttaacaaaca aatttttctg ctttaaaaat gtcttattgt
     7021 cccaagtgta ctatagcggc atatagagct agctaatctc tacaaaccct ctgtaggcca
     7081 gtagttctca aagtgtggtc tctggaagag cagtatcagc atcatctggg aacttgtcac
     7141 agatgcagat tctagggacc actccagacc tacacaatca gaaactcttg ggggagggcc
     7201 cgaaatatct atgttttacc aagcccacca catgattctg atgtactcta aatactgaga
     7261 aaacctgttc tagacaaata cccaagcaac aactccgcag gcagttacca agtacggctg
     7321 gctacaactg ctccatccgt gcctcttttt aaagttcaaa ctcacaggtg actctaaggt
     7381 tatctacttt tactcataag taaaagccct agactggtgc taatgtcaaa ccactggcct
     7441 ccactcaggc ctccatcttc tcatgccctc ttaccagtat ttaacttctg aggaagacaa
     7501 gtgatgctaa aacctgaaat tccaatgaag ccatatgaac agctgttcag ttgcacttct
     7561 aagactttac ttagcagtaa attatagctc atgtgcatta ttttccagat aacttagctt
     7621 atgagtagct tatacaatta tgaagattta atattacaga taaaatgtaa actgtttctt
     7681 taaaattggg gcttcaactt tggaatttca cagcgtgcta aaataacaga tttctcagaa
     7741 gtctttcagc aagataaaca ttattaagta acttatttat gaaagtatta aaatgcttac
     7801 atttgaactt gatggctaac ttacaaagat tctctatgta tcaaatgtaa cttactgcga
     7861 ctaaacttaa tttaatattt actctataac caaatgaaat atatttaaaa tatattgaat
     7921 attttatatt gttatatcct gacaagatta taatatttta atgtactaat atttctgtaa
     7981 ttatatctaa aatattattt tattatattg cctaagaata aacatttgtt aaattgga
//
LOCUS       NM_000092               9984 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens collagen type IV alpha 4 chain (COL4A4), mRNA.
ACCESSION   NM_000092
VERSION     NM_000092.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9984)
  AUTHORS   Yuan X, Su Q, Wang H, Shi S, Liu L, Lv J, Wang S, Zhu L and Zhang H.
  TITLE     Genetic Variants of the COL4A3, COL4A4, and COL4A5 Genes Contribute
            to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA
            Nephropathy Patients
  JOURNAL   J Am Soc Nephrol 34 (1), 132-144 (2023)
   PUBMED   36130833
  REMARK    GeneRIF: Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes
            Contribute to Thinned Glomerular Basement Membrane Lesions in
            Sporadic IgA Nephropathy Patients.
REFERENCE   2  (bases 1 to 9984)
  AUTHORS   Kohler J, Omachi K, Charu V, Miner JH and Bhalla V.
  TITLE     A COL4A4-G394S Variant and Impaired Collagen IV Trimerization in a
            Patient with Mild Alport Syndrome
  JOURNAL   Kidney360 3 (11), 1899-1908 (2022)
   PUBMED   36514391
  REMARK    GeneRIF: A COL4A4-G394S Variant and Impaired Collagen IV
            Trimerization in a Patient with Mild Alport Syndrome. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 9984)
  AUTHORS   Cocorpus J, Hager MM, Benchimol C, Bijol V, Salem F, Punj S,
            Castellanos L, Singer P, Sethna CB and Basalely A.
  TITLE     COL4A4 variant recently identified: lessons learned in variant
            interpretation-a case report
  JOURNAL   BMC Nephrol 23 (1), 253 (2022)
   PUBMED   35842573
  REMARK    GeneRIF: COL4A4 variant recently identified: lessons learned in
            variant interpretation-a case report. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 9984)
  AUTHORS   Deng H, Zhang Y, Ding J and Wang F.
  TITLE     Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant
            Splicing
  JOURNAL   Front Med (Lausanne) 9, 838983 (2022)
   PUBMED   35386907
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 9984)
  AUTHORS   Horinouchi T, Yamamura T, Nagano C, Sakakibara N, Ishiko S, Aoto Y,
            Rossanti R, Nakanishi K, Shima Y, Morisada N, Iijima K and Nozu K.
  TITLE     Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and
            COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome
  JOURNAL   Kidney360 1 (9), 936-942 (2020)
   PUBMED   35369551
  REMARK    GeneRIF: Heterozygous Urinary Abnormality-Causing Variants of COL4A3
            and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 9984)
  AUTHORS   Kashtan,C.E.
  TITLE     Alport Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301386
REFERENCE   7  (bases 1 to 9984)
  AUTHORS   Kamagata Y, Mattei MG and Ninomiya Y.
  TITLE     Isolation and sequencing of cDNAs and genomic DNAs encoding the
            alpha 4 chain of basement membrane collagen type IV and assignment
            of the gene to the distal long arm of human chromosome 2
  JOURNAL   J Biol Chem 267 (33), 23753-23758 (1992)
   PUBMED   1429714
REFERENCE   8  (bases 1 to 9984)
  AUTHORS   Mariyama M, Zheng K, Yang-Feng TL and Reeders ST.
  TITLE     Colocalization of the genes for the alpha 3(IV) and alpha 4(IV)
            chains of type IV collagen to chromosome 2 bands q35-q37
  JOURNAL   Genomics 13 (3), 809-813 (1992)
   PUBMED   1639407
REFERENCE   9  (bases 1 to 9984)
  AUTHORS   Gupta S, Batchu RB and Datta K.
  TITLE     Purification, partial characterization of rat kidney hyaluronic acid
            binding protein and its localization on the cell surface
  JOURNAL   Eur J Cell Biol 56 (1), 58-67 (1991)
   PUBMED   1724753
REFERENCE   10  (bases 1 to 9984)
  AUTHORS   Sanes JR, Engvall E, Butkowski R and Hunter DD.
  TITLE     Molecular heterogeneity of basal laminae: isoforms of laminin and
            collagen IV at the neuromuscular junction and elsewhere
  JOURNAL   J Cell Biol 111 (4), 1685-1699 (1990)
   PUBMED   2211832
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X81053.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396625.5/ ENSP00000379866.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079235.7, X81053.1,
            BX094848.1 and AC073149.5.
            On Aug 31, 2019 this sequence version replaced NM_000092.4.
            Summary: This gene encodes one of the six subunits of type IV
            collagen, the major structural component of basement membranes.
            This particular collagen IV subunit, however, is only found in a
            subset of basement membranes. Like the other members of the type IV
            collagen gene family, this gene is organized in a head-to-head
            conformation with another type IV collagen gene so that each gene
            pair shares a common promoter. Mutations in this gene are
            associated with type II autosomal recessive Alport syndrome
            (hereditary glomerulonephropathy) and with familial benign
            hematuria (thin basement membrane disease). Two transcripts,
            differing only in their transcription start sites, have been
            identified for this gene and, as is common for collagen genes,
            multiple polyadenylation sites are found in the 3' UTR. [provided
            by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..9984
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q36.3"
     gene            1..9984
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="collagen type IV alpha 4 chain"
                     /db_xref="GeneID:1286"
                     /db_xref="HGNC:HGNC:2206"
                     /db_xref="MIM:120131"
     misc_feature    19
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="alternative transcription initiation site"
     misc_feature    286..288
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="upstream in-frame stop codon"
     CDS             301..5373
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="Collagen IV, alpha-4 polypeptide; collagen of
                     basement membrane, alpha-4 chain; collagen, type IV, alpha
                     4; collagen alpha-4(IV) chain"
                     /codon_start=1
                     /product="collagen alpha-4(IV) chain precursor"
                     /protein_id="NP_000083.3"
                     /db_xref="CCDS:CCDS42828.1"
                     /db_xref="GeneID:1286"
                     /db_xref="HGNC:HGNC:2206"
                     /db_xref="MIM:120131"
                     /translation="MWSLHIVLMRCSFRLTKSLATGPWSLILILFSVQYVYGSGKKYIG
                     PCGGRDCSVCHCVPEKGSRGPPGPPGPQGPIGPLGAPGPIGLSGEKGMRGDRGPPGAAG
                     DKGDKGPTGVPGFPGLDGIPGHPGPPGPRGKPGMSGHNGSRGDPGFPGGRGALGPGGPL
                     GHPGEKGEKGNSVFILGAVKGIQGDRGDPGLPGLPGSWGAGGPAGPTGYPGEPGLVGPP
                     GQPGRPGLKGNPGVGVKGQMGDPGEVGQQGSPGPTLLVEPPDFCLYKGEKGIKGIPGMV
                     GLPGPPGRKGESGIGAKGEKGIPGFPGPRGDPGSYGSPGFPGLKGELGLVGDPGLFGLI
                     GPKGDPGNRGHPGPPGVLVTPPLPLKGPPGDPGFPGRYGETGDVGPPGPPGLLGRPGEA
                     CAGMIGPPGPQGFPGLPGLPGEAGIPGRPDSAPGKPGKPGSPGLPGAPGLQGLPGSSVI
                     YCSVGNPGPQGIKGKVGPPGGRGPKGEKGNEGLCACEPGPMGPPGPPGLPGRQGSKGDL
                     GLPGWLGTKGDPGPPGAEGPPGLPGKHGASGPPGNKGAKGDMVVSRVKGHKGERGPDGP
                     PGFPGQPGSHGRDGHAGEKGDPGPPGDHEDATPGGKGFPGPLGPPGKAGPVGPPGLGFP
                     GPPGERGHPGVPGHPGVRGPDGLKGQKGDTISCNVTYPGRHGPPGFDGPPGPKGFPGPQ
                     GAPGLSGSDGHKGRPGTPGTAEIPGPPGFRGDMGDPGFGGEKGSSPVGPPGPPGSPGVN
                     GQKGIPGDPAFGHLGPPGKRGLSGVPGIKGPRGDPGCPGAEGPAGIPGFLGLKGPKGRE
                     GHAGFPGVPGPPGHSCERGAPGIPGQPGLPGYPGSPGAPGGKGQPGDVGPPGPAGMKGL
                     PGLPGRPGAHGPPGLPGIPGPFGDDGLPGPPGPKGPRGLPGFPGFPGERGKPGAEGCPG
                     AKGEPGEKGMSGLPGDRGLRGAKGAIGPPGDEGEMAIISQKGTPGEPGPPGDDGFPGER
                     GDKGTPGMQGRRGEPGRYGPPGFHRGEPGEKGQPGPPGPPGPPGSTGLRGFIGFPGLPG
                     DQGEPGSPGPPGFSGIDGARGPKGNKGDPASHFGPPGPKGEPGSPGCPGHFGASGEQGL
                     PGIQGPRGSPGRPGPPGSSGPPGCPGDHGMPGLRGQPGEMGDPGPRGLQGDPGIPGPPG
                     IKGPSGSPGLNGLHGLKGQKGTKGASGLHDVGPPGPVGIPGLKGERGDPGSPGISPPGP
                     RGKKGPPGPPGSSGPPGPAGATGRAPKDIPDPGPPGDQGPPGPDGPRGAPGPPGLPGSV
                     DLLRGEPGDCGLPGPPGPPGPPGPPGYKGFPGCDGKDGQKGPVGFPGPQGPHGFPGPPG
                     EKGLPGPPGRKGPTGLPGPRGEPGPPADVDDCPRIPGLPGAPGMRGPEGAMGLPGMRGP
                     SGPGCKGEPGLDGRRGVDGVPGSPGPPGRKGDTGEDGYPGGPGPPGPIGDPGPKGFGPG
                     YLGGFLLVLHSQTDQEPTCPLGMPRLWTGYSLLYLEGQEKAHNQDLGLAGSCLPVFSTL
                     PFAYCNIHQVCHYAQRNDRSYWLASAAPLPMMPLSEEAIRPYVSRCAVCEAPAQAVAVH
                     SQDQSIPPCPQTWRSLWIGYSFLMHTGAGDQGGGQALMSPGSCLEDFRAAPFLECQGRQ
                     GTCHFFANKYSFWLTTVKADLQFSSAPAPDTLKESQAQRQKISRCQVCVKYS"
     sig_peptide     301..414
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
     mat_peptide     415..5370
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /product="collagen alpha-4(IV) chain"
     misc_feature    415..492
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: 7S domain"
     misc_feature    481..819
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    493..4677
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Triple-helical region"
     misc_feature    580..588
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    724..726
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P53420.3); glycosylation site"
     misc_feature    733..741
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    859..1074
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    865..873
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    1228..1236
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    1405..1470
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1513..1653
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1705..4671
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2305..2307
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P53420.3); glycosylation site"
     misc_feature    2470..2478
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    2653..2661
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    3265..3273
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    3916..3921
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="Cleavage, by collagenase. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P53420.3); cleavage
                     site"
     misc_feature    3934..3942
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="propagated from UniProtKB/Swiss-Prot (P53420.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     regulatory      9957..9962
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="hexamer: TATAAA"
     polyA_site      9984
                     /gene="COL4A4"
                     /gene_synonym="ATS2; BFH; BFH1; CA44"
                     /note="major polyA site"
ORIGIN
        1 actcgggagg ccccgcttgt tccccgcgcc cgcggcggtc cgcgttcccc gcctccagcc
       61 cgcctccaac ttgcggccgc cgggcttggc tgcgagagcg ccgcgaagag gcagcggggc
      121 gcgggtggat tggggctgga ggtgcgcgtc ccgtggggtg gcaaggcggc agctcctggc
      181 gctgcgggcg tccccacagg aacagacttt gacccagaac acagaacctc acttgtcaac
      241 aagaaccttc tggaagagaa gactggcaga atatttttta agtactaaga cttgcctgcg
      301 atgtggtctc tgcacatagt actaatgagg tgctccttca gattgaccaa gtccttggcc
      361 acaggtccct ggtcacttat actcattctc ttttctgtac aatatgtata tgggagtgga
      421 aagaaataca ttggtccttg tggaggaaga gattgctctg tttgccactg tgttcctgaa
      481 aaggggtctc ggggtccacc aggaccacca gggccacagg gtccaattgg acccctggga
      541 gccccaggac ccattgggct ttcaggagag aaaggaatga gaggggaccg cggccctcct
      601 ggagcagcag gggacaaagg agataagggt ccaactggtg ttcctggatt tccaggttta
      661 gatggcatac ctgggcaccc agggcctcct ggacccagag gcaaacctgg tatgagtggc
      721 cacaatggct caagaggtga cccagggttt ccaggaggaa gaggagctct tggcccagga
      781 ggccccctag gccatcctgg ggaaaaggga gaaaaaggaa attcagtgtt cattttaggt
      841 gccgttaaag gtattcaggg agacagaggg gacccaggac tgcctggctt accaggatct
      901 tggggtgcag gaggaccggc aggtcccaca ggatatcctg gagagccagg gttagtggga
      961 cctccgggcc aaccagggcg tccaggtttg aagggaaatc ccggtgtggg agtaaagggg
     1021 caaatgggag acccgggtga ggttggtcag caaggttctc ctggacccac cctgttggta
     1081 gagccacctg acttttgtct ctataaagga gaaaagggta taaaaggaat tcctggaatg
     1141 gttggactgc caggaccacc aggacgcaag ggagaatctg gtattggggc aaaaggagaa
     1201 aaaggtattc ctggatttcc agggcctcgg ggggatcctg gttcctatgg atctccaggt
     1261 tttccaggat taaagggaga actaggactg gttggagatc ctgggctatt tggattaatt
     1321 ggcccaaagg gggatcctgg aaatcgaggg cacccaggac caccaggtgt tttggtgact
     1381 ccacctcttc cactcaaagg cccaccaggg gacccagggt tccctggccg ctatggagaa
     1441 acaggggatg ttggaccacc tggtccccca ggtctcttgg gcagaccagg ggaagcctgt
     1501 gcaggcatga taggaccccc tgggccacaa ggatttcctg gtcttcctgg gcttccagga
     1561 gaagctggta ttcctgggag acctgattct gctccaggaa aaccagggaa gccaggatca
     1621 cctggcttgc ctggagcacc aggcctgcag ggcctcccag gatcaagtgt gatatactgt
     1681 agtgttggga accccggacc acaaggaata aaaggcaaag ttggtccccc aggaggaaga
     1741 ggcccaaaag gagaaaaagg aaatgaagga ctctgtgcct gtgagcctgg acccatgggc
     1801 ccccctggcc ctccaggact tcctgggagg caggggagta agggagactt ggggctccct
     1861 ggctggcttg gaacaaaagg tgacccagga cctcctggtg ctgaaggacc tccagggcta
     1921 ccaggaaagc atggtgcctc tggaccacct ggcaacaaag gggcgaaggg tgacatggtt
     1981 gtatcaagag ttaaagggca caaaggagaa agaggtcctg atgggccccc aggatttcca
     2041 gggcagccag gatcacatgg tcgggatgga catgctggag aaaaagggga tccaggacct
     2101 ccaggggatc atgaagatgc gaccccaggt ggtaaaggat ttcctggacc tctgggcccc
     2161 ccaggcaaag caggacctgt ggggccccca ggactgggat ttcctggtcc accaggagag
     2221 cgaggccacc caggagttcc aggccaccca ggtgtgaggg gccctgatgg cttgaagggt
     2281 cagaaaggtg acacaatttc ttgcaacgta acctaccctg ggaggcatgg ccctccaggt
     2341 tttgatggac ctccaggtcc gaagggattt ccaggtcccc aaggtgcccc tgggctgagt
     2401 ggttcagatg ggcataaagg cagacctggc acaccaggaa cagcggaaat accaggtcca
     2461 cctggttttc gtggtgacat gggagatccg ggttttggag gtgaaaaggg gtcctcccct
     2521 gttgggcccc caggccctcc cggctcacca ggagtgaatg gtcagaaagg aatcccggga
     2581 gaccctgcat ttggtcacct gggacccccg ggaaagaggg gtctttcagg agtgccaggg
     2641 ataaaaggac ccagaggtga tccgggatgt ccaggggctg aagggccagc tggcattcct
     2701 ggattcctag gtctcaaagg tcccaaaggc agagagggac atgctgggtt tccaggtgtc
     2761 ccaggtccac ctggccattc ctgtgaaaga ggtgctccag ggataccagg gcaaccggga
     2821 ctccctgggt atccaggtag cccaggtgct ccaggtggga aaggacagcc gggagatgtg
     2881 gggcctcccg ggccagctgg aatgaaaggc ctccccggac tcccaggacg gcctggggca
     2941 catggtcccc caggcctccc aggaatccca ggtccctttg gagatgatgg gctacctggt
     3001 cctccaggtc caaagggacc ccgggggctg cctggtttcc caggttttcc cggagaaaga
     3061 ggaaagcctg gtgcagaggg atgtcctggc gcaaagggag aacctggaga gaagggcatg
     3121 tctggccttc ctggagaccg gggactgaga ggggccaaag gagccatagg acctcccgga
     3181 gatgaaggag aaatggctat catttcacaa aagggaacac ctggggaacc tggacctcct
     3241 ggagatgatg gattcccagg agaaagaggt gataaaggaa ctcccgggat gcaagggaga
     3301 agaggagagc cgggaagata cggaccacct ggatttcaca gaggggaacc tggtgagaaa
     3361 ggtcagccag ggcctcctgg acccccaggc cctccaggct caactggtct aagagggttc
     3421 attggttttc caggacttcc aggtgaccag ggtgagccag gttctccagg tccccctgga
     3481 ttttcaggaa ttgatggagc aagaggacct aaaggaaaca aaggtgaccc tgccagtcac
     3541 tttggtccac ctggtccaaa gggtgagcca ggtagccctg gatgtccagg gcattttgga
     3601 gcatccggag agcagggctt gcctggtatt caagggccca gaggatcacc tggaaggcca
     3661 gggccacctg gctcctctgg accaccaggg tgcccaggtg atcacgggat gcctgggctg
     3721 aggggacagc caggagaaat gggagaccct gggccaagag gcctccaggg ggatccaggg
     3781 ataccaggtc ctccgggaat aaaaggtccc tccggatcac ctggcctgaa cggcttgcat
     3841 ggattgaaag gtcagaaagg aactaaaggt gcttcaggtt tgcatgatgt ggggccacct
     3901 ggtccagtgg gaatacctgg gctaaaaggg gagagaggag accctgggag cccaggaatc
     3961 tctcctccag gtcctcgtgg aaagaaaggt cccccaggac ccccagggag ttcaggacca
     4021 cctggtcctg caggtgccac aggaagagct cctaaggaca ttcctgaccc gggtccacct
     4081 ggagatcagg gacctcctgg tcctgatggc ccaagaggag cacctgggcc tccaggcctc
     4141 cctgggagtg ttgaccttct gagaggggag ccaggtgact gtggtctacc agggccacca
     4201 ggtccccctg gcccaccagg ccctccagga tacaaaggct ttccaggatg tgatggaaaa
     4261 gatggccaga aaggaccagt gggattcccg ggaccgcagg gaccacatgg atttcctggg
     4321 ccacctggag agaagggttt acctggacct ccagggagaa aagggcccac tggtcttccg
     4381 ggtcccagag gtgaaccggg gccacctgca gatgtggatg actgtccccg aatcccaggc
     4441 cttcctgggg cgccaggcat gagaggacca gaaggagcca tggggctccc tggaatgaga
     4501 ggcccctcag gaccagggtg caaaggagag cctgggctgg atggcaggag gggtgtggat
     4561 ggcgtccctg ggtctcctgg gcctcccgga cgtaaaggtg acacaggaga agacggctac
     4621 cctggaggac cagggcctcc tggtcccatt ggggatcctg ggcccaaagg gtttggccct
     4681 ggatacctcg gtggcttcct cctggttctc cacagtcaga cggaccagga gcccacctgc
     4741 cccctgggca tgcccaggct ctggactggg tatagtctgt tatacctgga agggcaagag
     4801 aaagctcaca atcaagacct tggtctggca gggtcttgcc ttcccgtatt tagcacgctg
     4861 ccctttgcct actgcaacat ccaccaggtg tgccactatg cccagagaaa cgacagatcc
     4921 tactggctgg ccagcgctgc gcccctcccc atgatgccac tctctgaaga ggcgatccgc
     4981 ccctatgtca gccgctgtgc ggtatgcgag gccccggccc aggcggtggc ggtgcacagc
     5041 caggaccagt ccatcccccc atgtccgcag acctggagga gcctctggat cgggtattca
     5101 ttcctgatgc acacaggagc tggggaccaa ggaggagggc aggcccttat gtcacctggc
     5161 agctgcctgg aagatttcag agcagcacca ttccttgaat gccagggccg gcagggaact
     5221 tgccactttt tcgcaaataa gtatagcttc tggctcacaa cggtgaaagc agacttgcag
     5281 ttttcctctg ctccagcacc agacacctta aaagaaagcc aggcccaacg ccagaaaatc
     5341 agccggtgcc aggtctgcgt gaagtatagc tagagaatgc gaaattcacc aacacgtggc
     5401 caagagaaac ttcctagggg gctaagactt cctagactgt gctaagagat gtcatggtgc
     5461 tcattttgga ctccctttca gtggttcctt ctgttttgtc gtggttattc ccagagtcct
     5521 ctggttcctt acacattaag caaatgctgc acagatggat ttgtttggac ctcccaatct
     5581 agggagccta gatactctta ttttactgag gatgatcgaa gaactggctt tacttaaaaa
     5641 tatgctaatt ctcagaaagg caagtagatg ataaaggcca gattacaaat tacattactg
     5701 aaaacttcat tcttgggtta acagtatctc aaacaattga agtcaattac tctataatac
     5761 agtgggcttc tggatggatt ttataggaaa aaataaacag gtcaatgaat gaaactagaa
     5821 agcagagatt ttcaacattt caaaatgatt tcctctgtaa tctatttttc catatacttt
     5881 aaataatggt aaaaccatga cgcaaagaga gatttttttt taaagaagaa aaaaaaaaat
     5941 tcacactgcc agcgttaaca gttcctttca aaggagaatg aatcatgatg gcaggaaggc
     6001 ccacagtcgc cgtattccag agatgcgaca ttagcataaa cacatcacag atgaatataa
     6061 aacattatgt tctcttctgc atttttcaga gaatagaaat gcctactttg gcaacccttt
     6121 tgaaaagtag caattatgga aaaaaaatat tcaataagag attaggagcc taaaagctat
     6181 tagtgaatat taaggtagtt attcacaaaa attgactccc cattgcagtg aacttccaga
     6241 cagactgctt ttccccagtc ggggtccggc gtgtcacagg tgcgtgcgtg ctaatgggac
     6301 tgacgctaca tggggctcac tcaggcaggc acgcgcttca tacaaagcat ctcactcccc
     6361 tccccaggag agcctgcaca gcttcttgca ctcacaacgg acactttgct ccacacacat
     6421 aatggcagct cacacaggga cgtgacagag ctatcattat gcacttggga gaaaattaag
     6481 ggccgattta attaaactta ggtaagaaga ttcatttaag tcagggttac cccatcagga
     6541 ggacatggca ctatctttaa acgaaacaaa gacaatttat aatttgaatt ttatgctccc
     6601 gtggttggct gttacaggag catcccattt tgccaatttt aaagacattc ttatatttca
     6661 tatcagtctt gtaccaaggc aacagtttga catttggcat tagtattttc taaaaaagtt
     6721 tagaatgtgt gtcaatttat aatgattatt tttttctgta aagcaaaaga tccctttttc
     6781 tgttttgcta ggaatttggt gatctaatcc taaatttaaa agatttgttg gaaaaaattt
     6841 ttaggaaact caccttcctc atctaaaaga aaaaggcatt ttagagaaaa ctaaagaaat
     6901 ttctcatgag cgtgacactc attttagtgc tttgtttccg tgcacttaaa aataattgag
     6961 aagaaaaact caattaaaat tttgtttata agaaatgttt tccttgccaa accttgattt
     7021 gtaatgagct cttatatgca gaacacattt caaatgagtt ttgctatggg ctgcccccag
     7081 ggtggcaatt tattttaaga gtattttctg gtaaaaagaa aaatgtgtat tttaagatga
     7141 aatattttct tgatgtagca gaatatttcc tagttcattt gacccatttg atatttttta
     7201 aaccatgctc tggcatgttg aatatttttg tgcacctaaa acttaagcca atttcaatct
     7261 tatttgtgat tacctttctc cttcccaaaa agctttatct attaccaaaa gtcaaccctc
     7321 ctaaaagttc aacctgttca tcttgaactt ggcctgagaa cattttctgg gaagaggtaa
     7381 gggtgacaaa tggaacatca gaaacgtatc ttgcttgcta attattttaa acactttaat
     7441 gttggtatta gaatattatc ttcataagtt aataaataag taaaaaaaaa aaacccacac
     7501 aaagacaggc taaattatgt agacagttta ctccacagtg agcttgggaa ggtatcagac
     7561 tgttcaaaat gttagtatta caagagctgt ctctaaatgc agcattaaca ctgccctcta
     7621 attttacaaa agtattttaa aggatcaaaa gggcggaaaa ataacttctt ggaatagaag
     7681 atcctgttac cttaaaccat tattttcttc acctggttat atatcaatgt gccttcaatt
     7741 accctttctc tgtggaggtg atgaacaaag cttttaagtt gttctcctaa cccattattg
     7801 gagatgatcc ttatcaaacc cttctctccc tgcctcccca ccaaccttgt agactggaac
     7861 gtgcctagat tgccctaatg ggaactgttc tgttctgtgc ccgtgctgga aatctgggat
     7921 gcttccttct gggttctgat tctcagtgag tggagcccat tcatccaggc aggtttccat
     7981 gctatgagtg gccctttcgt tctgctctca cactccccac attgaaagct gagtcatcgc
     8041 tgctttggat ggctacctcc tctttagccc cgtgcccgtc tcacacagcc tttgttttcc
     8101 acctccaccc ttgcagtagg catctcccag ttggtgcctt agtttcaaat cccagttgcc
     8161 atctaagatc cacccaaact tgattttgtc accctctgga ttagaatcct tctgtgactc
     8221 cgctgcccat gaagtccaaa tgacttccta tggggtgaaa ggtccagtgg ggactgttcg
     8281 agggttccct ctaggagtat ttcctgtcat gatgaactgt gtgcagctct gcagacactc
     8341 ccagcacctc ttcgactttg ctcctgcttc accagtgatg tcctccctgg ggtcagttta
     8401 ccctgcgtgg gaggtgaatt ccctggggga aacttaggct cccttctgct gctcttgtgc
     8461 agtgcacggg gctgtcctca ttttctccgt tccccattgc ttctttaatg tctcagtgca
     8521 cttccttcat tccattgcca aaatgcaagc cccttgaggg cagggaccat gcttgactcg
     8581 tttttgtatg cctaatgcct agcacagagt tgaacacatt actgccaatt catttttttc
     8641 aatgacaatt ccataaacat cattaggcat taggtgttca gctctgcata taaggtcttc
     8701 atcagcaaga cggttacaag tataaaccat ttcctatttc agaatatttt aatattcaac
     8761 atatttgtat acccacattc tcttgttaca attattgcca gaaagccaat tgataagctt
     8821 tcaaaatggg cttatcacac ccctccaaaa atagattttt gttttttcta taaacagaaa
     8881 tttcagaaat gagatttgag agatccgact gagaagaccc ttcagtaaaa tgtgacatga
     8941 cttaccttat gctgtaatct gtattccctc aggatttaag agcttcctag cataaaatct
     9001 ttgctaaacg tttgtgtaca tgttattggt gctccgaaaa atagtcaatg gaatggtgca
     9061 ctacaattgg gctttatcat cttattttga acctcgtgta gattacagta aagcaaacca
     9121 ttcagtgtgt tccaggaaat tatattagat ctgtgtttct atcagctcac tggaataatc
     9181 tgataattgt tacttttact tggtatggct gcaagaatag tggaaagaag aggacttgag
     9241 agttggtcga acccaggttt gaaatctggc ttagtcattt ttcagctgtt atcctgggtg
     9301 agttttgcca actttcttag cttcatttcc ctcattaata cggtgggaca taacagctac
     9361 tcttgcattg aaaattaagt tagattacct gtctagcata cccatcatca tacacttact
     9421 atggtcacat tttgtattta aaataaacta atacgaaaaa tatttctttt tttttacaca
     9481 gaattatgat tctcacaggg tatataaatt actgattaga attatttata tgtggccaat
     9541 tcttaatgtc attgggaatg ctgtttcatt tcaatcctca aagttactgt agcacagaaa
     9601 atatcacaat ttcctgcagg gacattatca gtaagttctg cagggaacaa acaattgaca
     9661 ttaaaaatca gtactctgca attgtcactg ttatcatctg ctagaaactc tgcataatgc
     9721 attttaaacc accaaggctg gctgccacat ccatgtgaaa tgcttgaatt ttatggtgct
     9781 taaatattta atgattcatg ggaaaaatgt gaaatgtgtc taataaattg catccctttc
     9841 tctaacctct ggttgtaaag ttaaagactt tcagcatgta acttttgcaa gatgcctggt
     9901 ctgccattgg cacttaaata tttgttgtat tacgatttat aatatggttc attatatata
     9961 aaattctgtg atgacttcca aaaa
//
LOCUS       NM_000093               8442 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens collagen type V alpha 1 chain (COL5A1), transcript
            variant 1, mRNA.
ACCESSION   NM_000093
VERSION     NM_000093.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8442)
  AUTHORS   Dong C, Zhao Y, Yang S and Jiao X.
  TITLE     LINC00173 blocks GATA6-mediated transcription of COL5A1 to affect
            malignant development of oral squamous cell carcinoma
  JOURNAL   J Oral Pathol Med 52 (6), 493-503 (2023)
   PUBMED   36856154
  REMARK    GeneRIF: LINC00173 blocks GATA6-mediated transcription of COL5A1 to
            affect malignant development of oral squamous cell carcinoma.
REFERENCE   2  (bases 1 to 8442)
  AUTHORS   Li X, Zhang Q, Yu SM and Li Y.
  TITLE     The Chemistry and Biology of Collagen Hybridization
  JOURNAL   J Am Chem Soc 145 (20), 10901-10916 (2023)
   PUBMED   37158802
  REMARK    Review article
REFERENCE   3  (bases 1 to 8442)
  AUTHORS   Rodas G, Caceres A, Ferrer E, Balague-Dobon L, Osaba L, Lucia A and
            Gonzalez JR.
  TITLE     Sex Differences in the Association between Risk of Anterior Cruciate
            Ligament Rupture and COL5A1 Polymorphisms in Elite Footballers
  JOURNAL   Genes (Basel) 14 (1), 33 (2022)
   PUBMED   36672775
  REMARK    GeneRIF: Sex Differences in the Association between Risk of Anterior
            Cruciate Ligament Rupture and COL5A1 Polymorphisms in Elite
            Footballers. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 8442)
  AUTHORS   Mitchell AL, Judis LM, Schwarze U, Vaynshtok PM, Drumm ML and Byers
            PH.
  TITLE     Characterization of tissue-specific and developmentally regulated
            alternative splicing of exon 64 in the COL5A1 gene
  JOURNAL   Connect Tissue Res 53 (3), 267-276 (2012)
   PUBMED   22149965
REFERENCE   5  (bases 1 to 8442)
  AUTHORS   Takahara K, Hoffman GG and Greenspan DS.
  TITLE     Complete structural organization of the human alpha 1 (V) collagen
            gene (COL5A1): divergence from the conserved organization of other
            characterized fibrillar collagen genes
  JOURNAL   Genomics 29 (3), 588-597 (1995)
   PUBMED   8575750
REFERENCE   6  (bases 1 to 8442)
  AUTHORS   Lee S and Greenspan DS.
  TITLE     Transcriptional promoter of the human alpha 1(V) collagen gene
            (COL5A1)
  JOURNAL   Biochem J 310 (Pt 1) (Pt 1), 15-22 (1995)
   PUBMED   7646438
REFERENCE   7  (bases 1 to 8442)
  AUTHORS   Malfait,F., Wenstrup,R. and De Paepe,A.
  TITLE     Classic Ehlers-Danlos Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301422
REFERENCE   8  (bases 1 to 8442)
  AUTHORS   Greenspan DS, Byers MG, Eddy RL, Cheng W, Jani-Sait S and Shows TB.
  TITLE     Human collagen gene COL5A1 maps to the q34.2----q34.3 region of
            chromosome 9, near the locus for nail-patella syndrome
  JOURNAL   Genomics 12 (4), 836-837 (1992)
   PUBMED   1572660
REFERENCE   9  (bases 1 to 8442)
  AUTHORS   Mann K.
  TITLE     Isolation of the alpha 3-chain of human type V collagen and
            characterization by partial sequencing
  JOURNAL   Biol Chem Hoppe Seyler 373 (2), 69-75 (1992)
   PUBMED   1571108
REFERENCE   10  (bases 1 to 8442)
  AUTHORS   Greenspan DS, Cheng W and Hoffman GG.
  TITLE     The pro-alpha 1(V) collagen chain. Complete primary structure,
            distribution of expression, and comparison with the pro-alpha 1(XI)
            collagen chain
  JOURNAL   J Biol Chem 266 (36), 24727-24733 (1991)
   PUBMED   1722213
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB371583.1, D90279.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371817.8/ ENSP00000360882.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL591890.31, AB371583.1,
            CN399221.1, AB209864.1, CN399265.1, BM051019.1, AI190929.1,
            CB152831.1, ES314363.1, BC032405.1, CN484933.1 and CA446007.1.
            On Aug 31, 2019 this sequence version replaced NM_000093.4.
            Summary: This gene encodes an alpha chain for one of the low
            abundance fibrillar collagens. Fibrillar collagen molecules are
            trimers that can be composed of one or more types of alpha chains.
            Type V collagen is found in tissues containing type I collagen and
            appears to regulate the assembly of heterotypic fibers composed of
            both type I and type V collagen. This gene product is closely
            related to type XI collagen and it is possible that the collagen
            chains of types V and XI constitute a single collagen type with
            tissue-specific chain combinations. The encoded procollagen protein
            occurs commonly as the heterotrimer
            pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene
            are associated with Ehlers-Danlos syndrome, types I and II.
            Alternative splicing of this gene results in multiple transcript
            variants. [provided by RefSeq, May 2013].
            Transcript Variant: This variant (1) encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8442
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..8442
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="collagen type V alpha 1 chain"
                     /db_xref="GeneID:1289"
                     /db_xref="HGNC:HGNC:2209"
                     /db_xref="MIM:120215"
     misc_feature    4
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /experiment="[PMID:7646438]"
                     /note="major transcription initiation site"
     misc_feature    275..277
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="upstream in-frame stop codon"
     CDS             386..5902
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; collagen alpha-1(V) chain; collagen, type V,
                     alpha 1"
                     /codon_start=1
                     /product="collagen alpha-1(V) chain isoform 1
                     preproprotein"
                     /protein_id="NP_000084.3"
                     /db_xref="CCDS:CCDS6982.1"
                     /db_xref="GeneID:1289"
                     /db_xref="HGNC:HGNC:2209"
                     /db_xref="MIM:120215"
                     /translation="MDVHTRWKARSALRPGAPLLPPLLLLLLWAPPPSRAAQPADLLKV
                     LDFHNLPDGITKTTGFCATRRSSKGPDVAYRVTKDAQLSAPTKQLYPASAFPEDFSILT
                     TVKAKKGSQAFLVSIYNEQGIQQIGLELGRSPVFLYEDHTGKPGPEDYPLFRGINLSDG
                     KWHRIALSVHKKNVTLILDCKKKTTKFLDRSDHPMIDINGIIVFGTRILDEEVFEGDIQ
                     QLLFVSDHRAAYDYCEHYSPDCDTAVPDTPQSQDPNPDEYYTEGDGEGETYYYEYPYYE
                     DPEDLGKEPTPSKKPVEAAKETTEVPEELTPTPTEAAPMPETSEGAGKEEDVGIGDYDY
                     VPSEDYYTPSPYDDLTYGEGEENPDQPTDPGAGAEIPTSTADTSNSSNPAPPPGEGADD
                     LEGEFTEETIRNLDENYYDPYYDPTSSPSEIGPGMPANQDTIYEGIGGPRGEKGQKGEP
                     AIIEPGMLIEGPPGPEGPAGLPGPPGTMGPTGQVGDPGERGPPGRPGLPGADGLPGPPG
                     TMLMLPFRFGGGGDAGSKGPMVSAQESQAQAILQQARLALRGPAGPMGLTGRPGPVGPP
                     GSGGLKGEPGDVGPQGPRGVQGPPGPAGKPGRRGRAGSDGARGMPGQTGPKGDRGFDGL
                     AGLPGEKGHRGDPGPSGPPGPPGDDGERGDDGEVGPRGLPGEPGPRGLLGPKGPPGPPG
                     PPGVTGMDGQPGPKGNVGPQGEPGPPGQQGNPGAQGLPGPQGAIGPPGEKGPLGKPGLP
                     GMPGADGPPGHPGKEGPPGEKGGQGPPGPQGPIGYPGPRGVKGADGIRGLKGTKGEKGE
                     DGFPGFKGDMGIKGDRGEIGPPGPRGEDGPEGPKGRGGPNGDPGPLGPPGEKGKLGVPG
                     LPGYPGRQGPKGSIGFPGFPGANGEKGGRGTPGKPGPRGQRGPTGPRGERGPRGITGKP
                     GPKGNSGGDGPAGPPGERGPNGPQGPTGFPGPKGPPGPPGKDGLPGHPGQRGETGFQGK
                     TGPPGPPGVVGPQGPTGETGPMGERGHPGPPGPPGEQGLPGLAGKEGTKGDPGPAGLPG
                     KDGPPGLRGFPGDRGLPGPVGALGLKGNEGPPGPPGPAGSPGERGPAGAAGPIGIPGRP
                     GPQGPPGPAGEKGAPGEKGPQGPAGRDGLQGPVGLPGPAGPVGPPGEDGDKGEIGEPGQ
                     KGSKGDKGEQGPPGPTGPQGPIGQPGPSGADGEPGPRGQQGLFGQKGDEGPRGFPGPPG
                     PVGLQGLPGPPGEKGETGDVGQMGPPGPPGPRGPSGAPGADGPQGPPGGIGNPGAVGEK
                     GEPGEAGEPGLPGEGGPPGPKGERGEKGESGPSGAAGPPGPKGPPGDDGPKGSPGPVGF
                     PGDPGPPGEPGPAGQDGPPGDKGDDGEPGQTGSPGPTGEPGPSGPPGKRGPPGPAGPEG
                     RQGEKGAKGEAGLEGPPGKTGPIGPQGAPGKPGPDGLRGIPGPVGEQGLPGSPGPDGPP
                     GPMGPPGLPGLKGDSGPKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSSGPKGEQGI
                     TGPSGPIGPPGPPGLPGPPGPKGAKGSSGPTGPKGEAGHPGPPGPPGPPGEVIQPLPIQ
                     ASRTRRNIDASQLLDDGNGENYVDYADGMEEIFGSLNSLKLEIEQMKRPLGTQQNPART
                     CKDLQLCHPDFPDGEYWVDPNQGCSRDSFKVYCNFTAGGSTCVFPDKKSEGARITSWPK
                     ENPGSWFSEFKRGKLLSYVDAEGNPVGVVQMTFLRLLSASAHQNVTYHCYQSVAWQDAA
                     TGSYDKALRFLGSNDEEMSYDNNPYIRALVDGCATKKGYQKTVLEIDTPKVEQVPIVDI
                     MFNDFGEASQKFGFEVGPACFMG"
     sig_peptide     386..496
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P20908.3)"
     proprotein      497..5899
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /product="collagen alpha-1(V) chain isoform 1 proprotein"
     mat_peptide     497..5200
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /product="Collagen alpha-1(V) chain. /id=PRO_0000005756"
                     /note="propagated from UniProtKB/Swiss-Prot (P20908.3)"
     misc_feature    1076..1714
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="propagated from UniProtKB/Swiss-Prot (P20908.3);
                     Region: Nonhelical region"
     misc_feature    1085..1087
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P20908.3); sulfatation site"
     misc_feature    1091..1093
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P20908.3); sulfatation site"
     misc_feature    1103..1105
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P20908.3); sulfatation site"
     misc_feature    1109..1192
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="propagated from UniProtKB/Swiss-Prot (P20908.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1169..1171
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P20908.3); sulfatation site"
     misc_feature    1172..1174
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P20908.3); sulfatation site"
     misc_feature    1226..1756
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="propagated from UniProtKB/Swiss-Prot (P20908.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1397..1399
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P20908.3); sulfatation site"
     misc_feature    1403..1405
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P20908.3); sulfatation site"
     misc_feature    1421..1423
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P20908.3); sulfatation site"
     misc_feature    1424..1426
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P20908.3); sulfatation site"
     misc_feature    1631..1633
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P20908.3); sulfatation site"
     misc_feature    1634..1636
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P20908.3); sulfatation site"
     misc_feature    1643..1645
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P20908.3); sulfatation site"
     misc_feature    1646..1648
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P20908.3); sulfatation site"
     misc_feature    1715..2059
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="propagated from UniProtKB/Swiss-Prot (P20908.3);
                     Region: Interrupted collagenous region"
     misc_feature    1793..1945
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="propagated from UniProtKB/Swiss-Prot (P20908.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1961..2020
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="propagated from UniProtKB/Swiss-Prot (P20908.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2060..5107
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="propagated from UniProtKB/Swiss-Prot (P20908.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2060..5095
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="propagated from UniProtKB/Swiss-Prot (P20908.3);
                     Region: Triple-helical region"
     misc_feature    2093..2095
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2111..2113
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2246..2248
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2264..2266
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2300..2302
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2309..2311
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2327..2329
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2345..2347
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2354..2356
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2408..2410
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2417..2419
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2444..2446
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2453..2455
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2471..2473
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2498..2500
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2507..2509
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2534..2536
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2543..2545
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2561..2563
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2579..2581
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2615..2617
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2633..2635
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2651..2653
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661,
                     ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2669..2671
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661,
                     ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2678..2680
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2696..2698
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2705..2707
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2723..2725
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2750..2752
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2768..2770
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2795..2797
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2804..2806
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2813..2815
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2831..2833
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2840..2842
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:2496661; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2885..2887
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661,
                     ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2921..2923
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:2496661,
                     ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2966..2968
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661,
                     ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2975..2977
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:2496661,
                     ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    2993..2995
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661,
                     ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    3002..3004
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661,
                     ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    3011..3013
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661,
                     ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    3029..3031
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:2496661,
                     ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    3047..3049
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661,
                     ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    3056..3058
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661,
                     ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    3074..3076
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="5-hydroxylysine.
                     /evidence=ECO:0000269|PubMed:2496661,
                     ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    3092..3094
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661,
                     ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    3101..3103
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2496661,
                     ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    3173..3175
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    3218..3220
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    3434..3436
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    3443..3445
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    3452..3454
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    3470..3472
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    4046..4048
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    4055..4057
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    4784..4786
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    4793..4795
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P20908.3); hydroxylation site"
     misc_feature    5096..5200
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="propagated from UniProtKB/Swiss-Prot (P20908.3);
                     Region: Nonhelical region"
     misc_feature    5186..5188
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P20908.3); sulfatation site"
     misc_feature    5195..5197
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P20908.3); sulfatation site"
     regulatory      8119..8124
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="hexamer: AATAAA"
     polyA_site      8147
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="major polyA site"
     regulatory      8412..8417
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
                     /note="hexamer: AATAAA"
     polyA_site      8442
                     /gene="COL5A1"
                     /gene_synonym="EDSC; EDSCL1; FMDMF"
ORIGIN
        1 gtccgcactc tccgtccccg cggctggcgc aggacctcac tcgagcggag cgcccacggg
       61 gagcgggtcg cggggcggcg gcggcgagga ggaggcgaga aggagttgga ggaggaggag
      121 gaggaggcga gggcgagcta gcccagcggg gtcccggccg ccccgcgggc caaagtcgag
      181 ccctcccgcc cgtgggcgag cgcgccagcc gccccttcca gaacagccgc cgccacaaag
      241 aagaacgggg ggtgccgagg tccccatgac ctcctaaagt ggtgcggtcc ctgctgagtg
      301 cgctgcccgg gccgtgaccc gcgcccctgt gcgtccccgc gcgcctccga gcgcccctgt
      361 gcgccccggc ccgcgccccg ccggcatgga cgtccatacc cgctggaaag cgcgcagcgc
      421 gctccgcccg ggcgccccgc tgctgccccc gctgctgctg ctgctgctgt gggcgccgcc
      481 tccgagccgc gcagctcagc cagcagatct cctgaaggtt ctagattttc acaacttgcc
      541 tgatggaata acaaagacaa caggcttttg cgccacgcgg cgatcttcca aaggcccgga
      601 tgtcgcttac agagtcacca aagacgcgca gctcagcgca cccaccaagc agctgtaccc
      661 tgcgtctgca tttcccgagg acttctccat cctaacaact gtgaaagcca agaaaggcag
      721 ccaggccttc ctggtctcca tctacaacga gcagggtatc cagcagattg ggctggagct
      781 gggccgctct cccgtcttcc tctacgagga ccacacgggg aagcctggcc cggaagacta
      841 ccccctcttc cggggcatca acctgtcaga tggcaagtgg cacagaattg ctctcagcgt
      901 ccacaagaaa aatgtcacct tgatcctcga ctgtaaaaag aagaccacca aattcctcga
      961 ccgcagcgac caccccatga tcgacatcaa tggcatcatc gtgtttggca cccggatcct
     1021 ggatgaggag gtgtttgagg gtgacatcca gcagctgctc tttgtctcgg accaccgggc
     1081 agcttatgat tactgtgagc actacagccc tgactgtgac accgcagtac ctgacacccc
     1141 acagtcgcag gaccccaatc cagatgaata ttacacggaa ggagacggcg agggtgagac
     1201 ctattactac gaatacccct actacgaaga ccccgaagac ctagggaagg agcccacccc
     1261 cagcaagaag cccgtggaag ctgccaaaga aaccacagag gtccccgagg agctgacccc
     1321 gacccccacg gaagctgctc ccatgcctga aaccagtgaa ggggctggga aggaagagga
     1381 cgtcggcatc ggggactatg actacgtgcc cagtgaggac tactacacgc cctcaccgta
     1441 tgatgacctc acctatggcg agggggagga gaaccccgac cagcccacag acccaggcgc
     1501 tggggccgaa attcccacca gcaccgccga cacctccaac tcctccaatc cagctccgcc
     1561 tccaggggaa ggtgcggatg acttggaggg ggagttcact gaggaaacga tccggaacct
     1621 tgacgagaac tactacgacc cctactacga ccccaccagc tccccgtcgg agatcgggcc
     1681 gggaatgccg gcgaaccagg ataccatcta tgaagggatt ggaggacctc ggggcgagaa
     1741 aggccaaaag ggagaaccag cgattatcga gccgggcatg ctcatcgagg gcccgcctgg
     1801 cccagaaggc cccgcgggtc ttcccggacc tccaggaacc atgggtccca ctggccaagt
     1861 cggggaccct ggagaaaggg gcccccctgg acgcccaggc cttcctgggg ccgatggcct
     1921 gcccggtcct ccaggaacca tgctcatgct gcccttccgg tttggaggtg gcggcgatgc
     1981 gggctccaaa ggccccatgg tctcagccca ggagtcccag gcgcaagcca ttctccagca
     2041 ggccaggttg gcactgaggg gaccagctgg cccgatgggt ctcacaggga gacctggccc
     2101 tgtgggtccc cctgggagcg gaggtttgaa gggcgagccg ggagacgtgg ggcctcaggg
     2161 tcctcgaggt gtgcaaggcc cgcctggtcc ggccgggaag cccggaagac ggggtcgggc
     2221 tgggagtgat ggagccagag gaatgcctgg acaaactggc cccaagggtg accggggttt
     2281 cgacggcctg gctgggttgc caggcgagaa gggccacagg ggtgaccctg gtccttccgg
     2341 cccaccagga cctccgggag acgatggaga aaggggtgac gacggagaag ttgggcccag
     2401 ggggctgcct ggggagcccg ggccacgtgg tctgcttggg ccgaaggggc ccccaggtcc
     2461 tcccggacct cccggtgtca cgggtatgga cggccagccg gggccaaaag gaaatgtggg
     2521 tccccaggga gagcctggcc ccccaggaca gcagggtaat ccaggcgccc agggtcttcc
     2581 aggcccccag ggtgcaattg gtcctccagg agaaaagggt cccttgggga aaccaggcct
     2641 tccaggaatg cccggtgctg acggaccccc gggacaccct ggcaaagaag gccctccagg
     2701 agagaaagga ggtcagggtc cacctggccc ccagggtccg attggctacc caggtcctcg
     2761 aggagtcaag ggggccgatg gcatccgtgg tctgaagggc acaaagggcg agaagggtga
     2821 agacggcttt cctgggttta aaggagacat gggcatcaag ggtgatcggg gggagatcgg
     2881 cccacccggt cccaggggag aagatggccc tgaaggccca aagggtcgcg gaggtcccaa
     2941 tggtgacccc ggtcctctgg gaccccctgg ggagaaggga aaactcggag tcccagggtt
     3001 accagggtat ccaggaagac aaggaccaaa gggctctatt ggattccctg gatttcctgg
     3061 cgccaatgga gagaagggcg gcagggggac ccctggaaag ccaggaccgc gggggcagcg
     3121 aggcccaacg ggtccgaggg gtgaaagagg cccccggggc atcactggga agcctggccc
     3181 caagggcaac tccggaggtg acggcccagc tggccctcct ggtgaacggg gacccaatgg
     3241 accccaagga cccacaggat ttcctggacc aaagggcccc cctggccctc caggcaagga
     3301 tggactccca ggacaccctg gacagagagg cgagactggt ttccaaggca agaccggccc
     3361 tccaggcccc cccggcgtgg tcggccctca gggtcccacg ggagaaacgg gcccaatggg
     3421 tgagcgtggc caccctgggc cccctggacc ccccggtgaa caggggcttc cgggccttgc
     3481 tggaaaagaa gggacgaagg gtgacccagg ccctgcaggc ctccctggga aagatggccc
     3541 tccaggatta cgtggtttcc ctggggaccg agggcttcct ggtccagtgg gagctcttgg
     3601 actgaaaggc aatgaagggc cccctggccc accaggccct gcgggatctc caggggagag
     3661 aggtccagct ggagccgctg ggcccatcgg aattccaggg agacctgggc cccagggacc
     3721 cccagggccg gcaggagaga aaggggctcc tggcgagaaa ggcccacaag gcccagctgg
     3781 ccgagacggt ctccaggggc ctgtggggct cccgggtcca gctggccctg tgggtccccc
     3841 tggagaagac ggagataagg gagagatcgg ggagccgggg cagaaaggaa gcaaggggga
     3901 caaaggagaa cagggtcctc ctgggcctac aggtcctcaa ggccccatcg gacagccagg
     3961 cccctctgga gctgacggcg agccggggcc tcggggccag cagggccttt tcgggcagaa
     4021 aggtgatgaa ggtcccagag gctttcctgg accccctggg ccagtggggc tgcagggttt
     4081 gccaggacct ccaggcgaga agggtgagac aggagacgtg ggccagatgg gccccccggg
     4141 tccccctggc ccccgaggac cctccggagc tccaggtgct gatggcccac aaggtccccc
     4201 aggtggaata ggaaaccctg gtgcagtggg agagaagggc gagcctggcg aagcaggtga
     4261 gcctggcctt ccgggagaag gcggcccccc gggacccaaa ggagaaaggg gagagaaggg
     4321 cgagtcaggc ccttcaggtg ctgccggacc ccctggaccc aaaggccctc ccggagatga
     4381 tggtcccaaa ggcagccctg gcccagtggg ttttcctgga gatcctggcc cccccggaga
     4441 gcctggcccc gcgggtcaag atggtccccc tggtgacaaa ggagatgatg gtgaacccgg
     4501 gcagacggga tcccccggcc ctactggtga accaggtcca tcggggcctc caggaaaaag
     4561 gggtccccca ggccccgcag gccccgaagg cagacaggga gagaaagggg ccaagggaga
     4621 agccggcttg gaaggccctc ctgggaagac tggccccatc ggcccccagg gggcccctgg
     4681 gaagcccgga ccggatggcc ttcgagggat ccctggccct gtgggagaac aaggtctccc
     4741 aggatcccca ggcccggacg gtccccccgg ccccatgggt cccccaggac ttcccggcct
     4801 caaaggagat tctggtccca aaggtgaaaa gggtcatcca ggcctgatcg ggctcatcgg
     4861 tcctccgggt gaacagggtg agaagggcga ccgtggtctc cctggccccc agggctcctc
     4921 cggtcctaag ggagaacagg gtatcactgg tccttctggc ccgattgggc ctcctgggcc
     4981 ccctggcctg ccgggtccgc ctggtccaaa aggtgctaag ggctcctcgg gtccaactgg
     5041 cccgaagggt gaggcaggcc acccaggacc cccaggcccc ccgggccccc cgggagaggt
     5101 catccagccc ctgccaatcc aggcatccag gacgcggcgg aacatcgacg ccagccagct
     5161 gctggacgac gggaatggcg agaactacgt ggactacgcg gacggcatgg aagagatctt
     5221 cggctctctc aactctctga agctggagat tgagcagatg aaacggcccc tgggcacgca
     5281 gcagaacccc gcccgcacct gcaaggacct gcagctctgc caccccgact tcccagatgg
     5341 tgaatactgg gtcgatccta accaaggatg ctccagggat tccttcaagg tttactgcaa
     5401 cttcacagcc ggggggtcga catgcgtctt ccctgacaag aagtccgaag gggccagaat
     5461 cacttcttgg cccaaagaaa acccgggctc ctggttcagt gaattcaagc gtgggaaact
     5521 gctctcctat gtggacgccg agggcaaccc tgtgggtgtg gtacagatga ccttcctgcg
     5581 gctgctgagc gcctctgccc accagaacgt cacctaccac tgctaccagt cagtggcctg
     5641 gcaggacgca gccacgggca gctacgacaa ggccctccgc ttcctgggct ccaacgacga
     5701 ggagatgtcc tatgacaaca acccctacat ccgcgccctg gtggacggct gtgctaccaa
     5761 gaaaggctac cagaagacgg ttctggagat cgacaccccc aaagtggagc aggtgcccat
     5821 cgtggacatc atgttcaatg acttcggtga agcgtcacag aaatttggat ttgaagtggg
     5881 gccggcttgc ttcatgggct aggagccgcc gagcccgggc tcccgagagc aacctcgtga
     5941 cctcagcatg ccattcgttc gtgagtgtcc cgtgcacgtc ctgaccctgg acagtgaagg
     6001 cttctccctc ccctcccacc tgacttcatc tacgcctcgg caccacgggg tgtgggaccc
     6061 cagcccggag agaacagagg gaaggagccg cgcccccacc tggagctgaa tcacatgacc
     6121 tagctgcacc ccagcgcctg ggcccgcccc acgctctgtc cacacccacg cgccccggga
     6181 gcggggccat gcctccagcc ccccagctcg cccgacccat cctgttcgtg aataggtctc
     6241 aggggttggg ggagggactg ccagatttgg acactatatt tttttctaaa ttcaacttga
     6301 agatgtgtat ttcccctgac cttcaaaaaa tgttccaagg taagcctcgt aaaggtcatc
     6361 ccaccatcac caaagcctcc gtttttaaca acctccaaca cgatccattt agaggccaaa
     6421 tgtcattctg caggtgcctt cccgatggat taaaggtgct tatgtttttg tgagttttaa
     6481 gtaaatattt gtattgtatt gttataaatg ttaagtgtgc ctggctttca atcatgcacg
     6541 gaaacccagt ctcagtccca cggacagaat gggcgaggca tggattctgg gttgcagtac
     6601 cgttctgatt agaaatagga agtctcccca cccccgccct ggccaagaac gtgcaataaa
     6661 ttggaagttt gccccggggc agcaagaatt tatgctgcca ttgaaaagca ggtaccagtg
     6721 ccccttttca gacagttttt gattcgctct agactttttt tttttttaat agggaaaaaa
     6781 tttgataatt ttcttttttc tacatgcact taagactaaa acacaggttt ggattaattt
     6841 tatttgcttc ctttttccgc ttttcttccc gcagagcctg atgggagaat gtccagggca
     6901 gggaaaccac attttttgta ggtgataact caatgaaaat tggtgcttat tttttacact
     6961 tctctcttgt ggctctcttg tggtgctatc tatctgtttt aaggtctcct tgaaggcgca
     7021 ctggggaccc tggccatgcc tcgttctccc tgctttcttt atcctgttat tgcctccaca
     7081 gtctgttgcc aaggactcta agatcaatgc acgtcacttt cctttccact gggcaggata
     7141 gccaagcaca ctccctcctg cgctctcccg ccccggtgcg tccactcccg agggctgtta
     7201 tgaggactgg gttgtgccta cttgatttga aaacacacac aagcaataaa aagcctcttc
     7261 ctgcattgtc tgtggtgtga ccatagcaga ttatatttgg ttcctgaatg tttgtggtgc
     7321 taatttctgt gtttgttcca agccgttcag tcatgccatg cgctgcctcg gtagatggag
     7381 taatgtacaa tgaactccat gagtctctcc agggctgcct gcagcacgtc ttttccaagt
     7441 agcctatttg gattcccatc tcaaatgtcc tggatgcgag cgtcagcggc tccagagctc
     7501 ggggcgggtg aggtcccctt tggggaaccc tttcctggcc atcgaggtcg gggggctgcc
     7561 gtctgtgggc aggaggaccc gaggggcagc caggaaaggc gatctcttca ctgtgaaaag
     7621 ttgcccgggt gcagcgcctt ttccttctac catgggaaat gcaggctggg cccttggggt
     7681 gagcctgcgg ggctctggtg ctgtccccga cccccaccac caccagaatg cagttccagc
     7741 ttaggaagcc acaaacaagc cacccaggag gaacaaaaca ccgccagcgt ggattttcca
     7801 aatttccctg gaaagtaagt ctcgctcttg ccaaagaaaa gtctggcttg gagagtctct
     7861 ggagcccagg atgccagcat gtgccaatga ctgtcacctt catctcttca aaagaaaagc
     7921 catagccgag gactgtcccg cgacccccgt ggactgcgtc taggtcatgt gattctgttt
     7981 tcatttctca tcccatccaa tttgtccttt tctcctgtca ttttcttcct ctgtggtccc
     8041 ttcaaagttg ttataatttg tactgaactt caaaatgtgt cccgttctcc ccagaccact
     8101 ctagccacag tatattgcaa taaaattact tcttatattt gcagaaattc ttttggtgta
     8161 attttatttt ttcctctcaa tatatataat tggacaaacg ctggcaaaaa gaaaaaaatg
     8221 gtaagcaaaa aacccaagat aaagtttcga ggacatcagg ccttttgaaa tacaatgtca
     8281 aatgacacat tgtacggttt caaaaaatcc gctagacatg tcataagttt taactgtaat
     8341 gcccaggaaa ggatatctta aaatattcta aacttgtgta acaaaggaat aattaactgt
     8401 aatagttttt caataaatcg agttgggtgt ttccaccgta aa
//
LOCUS       NM_000094               9231 bp    mRNA    linear   PRI 18-MAR-2023
DEFINITION  Homo sapiens collagen type VII alpha 1 chain (COL7A1), mRNA.
ACCESSION   NM_000094
VERSION     NM_000094.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9231)
  AUTHORS   Natale MI, Manzur GB, Lusso SB, Cella E, Giovo ME, Andrada R, Goitia
            J, Fernandez MF, Della Giovanna PS, Guillamondegui MJ, Dominguez M,
            Gutierrez O, Izquierdo A, Hernandez Herrera H, Velazquez Perdomo LG,
            Mistchenko AS and Valinotto LE.
  TITLE     Analysis of COL7A1 pathogenic variants in a large cohort of
            dystrophic epidermolysis bullosa patients from Argentina reveals a
            new genotype-phenotype correlation
  JOURNAL   Am J Med Genet A 188 (11), 3153-3161 (2022)
   PUBMED   35979658
  REMARK    GeneRIF: Analysis of COL7A1 pathogenic variants in a large cohort of
            dystrophic epidermolysis bullosa patients from Argentina reveals a
            new genotype-phenotype correlation.
REFERENCE   2  (bases 1 to 9231)
  AUTHORS   Wang R, Sun L, Habulieti X, Liu J, Guo K, Yang X, Ma D and Zhang X.
  TITLE     Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5
            underlying epidermolysis bullosa in five Chinese families
  JOURNAL   Front Med 16 (5), 808-814 (2022)
   PUBMED   35314946
  REMARK    GeneRIF: Novel variants in LAMA3 and COL7A1 and recurrent variant in
            KRT5 underlying epidermolysis bullosa in five Chinese families.
REFERENCE   3  (bases 1 to 9231)
  AUTHORS   Chao YC, Hong JB, Liu C, Lee MS and Lin RY.
  TITLE     COL7A1 G2287R mutation with two clinical phenotypes in the same
            family: Bullous dermolysis of the newborn and dystrophic
            epidermolysis bullosa pruriginosa
  JOURNAL   J Dermatol 49 (9), e313-e314 (2022)
   PUBMED   35560343
  REMARK    GeneRIF: COL7A1 G2287R mutation with two clinical phenotypes in the
            same family: Bullous dermolysis of the newborn and dystrophic
            epidermolysis bullosa pruriginosa.
REFERENCE   4  (bases 1 to 9231)
  AUTHORS   Akasaka E, Nakano H and Sawamura D.
  TITLE     Two cases of the intermediate phenotype of recessive dystrophic
            epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A
  JOURNAL   J Dermatol Sci 106 (3), 193-195 (2022)
   PUBMED   35527172
  REMARK    GeneRIF: Two cases of the intermediate phenotype of recessive
            dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation
            c.3570G>A. Erratum:[J Dermatol Sci. 2022 Oct;108(1):55. PMID:
            36404218]
REFERENCE   5  (bases 1 to 9231)
  AUTHORS   Mayr E, Ablinger M, Lettner T, Murauer EM, Guttmann-Gruber C, Pinon
            Hofbauer J, Hainzl S, Kaiser M, Klausegger A, Bauer JW, Koller U and
            Wally V.
  TITLE     5'RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in
            Epidermolysis Bullosa
  JOURNAL   Int J Mol Sci 23 (3), 1732 (2022)
   PUBMED   35163654
  REMARK    GeneRIF: 5'RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in
            Epidermolysis Bullosa. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 9231)
  AUTHORS   Pfendner,E.G. and Lucky,A.W.
  TITLE     Dystrophic Epidermolysis Bullosa
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301481
REFERENCE   7  (bases 1 to 9231)
  AUTHORS   Gammon WR, Abernethy ML, Padilla KM, Prisayanh PS, Cook ME, Wright
            J, Briggaman RA and Hunt SW 3rd.
  TITLE     Noncollagenous (NC1) domain of collagen VII resembles multidomain
            adhesion proteins involved in tissue-specific organization of
            extracellular matrix
  JOURNAL   J Invest Dermatol 99 (6), 691-696 (1992)
   PUBMED   1469284
REFERENCE   8  (bases 1 to 9231)
  AUTHORS   Christiano AM, Rosenbaum LM, Chung-Honet LC, Parente MG, Woodley DT,
            Pan TC, Zhang RZ, Chu ML, Burgeson RE and Uitto J.
  TITLE     The large non-collagenous domain (NC-1) of type VII collagen is
            amino-terminal and chimeric. Homology to cartilage matrix protein,
            the type III domains of fibronectin and the A domains of von
            Willebrand factor
  JOURNAL   Hum Mol Genet 1 (7), 475-481 (1992)
   PUBMED   1307247
REFERENCE   9  (bases 1 to 9231)
  AUTHORS   Tanaka T, Takahashi K, Furukawa F and Imamura S.
  TITLE     Molecular cloning and characterization of type VII collagen cDNA
  JOURNAL   Biochem Biophys Res Commun 183 (3), 958-963 (1992)
   PUBMED   1567409
REFERENCE   10  (bases 1 to 9231)
  AUTHORS   Parente MG, Chung LC, Ryynanen J, Woodley DT, Wynn KC, Bauer EA,
            Mattei MG, Chu ML and Uitto J.
  TITLE     Human type VII collagen: cDNA cloning and chromosomal mapping of the
            gene
  JOURNAL   Proc Natl Acad Sci U S A 88 (16), 6931-6935 (1991)
   PUBMED   1871109
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853566.19427.1,
            SRR18074969.701241.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000681320.1/ ENSP00000506558.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC121252.4.
            On or before Feb 25, 2020 this sequence version replaced
            XM_011533337.1, NM_000094.3.
            Summary: This gene encodes the alpha chain of type VII collagen.
            The type VII collagen fibril, composed of three identical alpha
            collagen chains, is restricted to the basement zone beneath
            stratified squamous epithelia. It functions as an anchoring fibril
            between the external epithelia and the underlying stroma. Mutations
            in this gene are associated with all forms of dystrophic
            epidermolysis bullosa. In the absence of mutations, however, an
            acquired form of this disease can result from an autoimmune
            response made to type VII collagen. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..9231
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..9231
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="collagen type VII alpha 1 chain"
                     /db_xref="GeneID:1294"
                     /db_xref="HGNC:HGNC:2214"
                     /db_xref="MIM:120120"
     CDS             64..8898
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="LC collagen; collagen VII, alpha-1 polypeptide;
                     collagen alpha-1(VII) chain; long-chain collagen; collagen,
                     type VII, alpha 1"
                     /codon_start=1
                     /product="collagen alpha-1(VII) chain precursor"
                     /protein_id="NP_000085.1"
                     /db_xref="CCDS:CCDS2773.1"
                     /db_xref="GeneID:1294"
                     /db_xref="HGNC:HGNC:2214"
                     /db_xref="MIM:120120"
                     /translation="MTLRLLVAALCAGILAEAPRVRAQHRERVTCTRLYAADIVFLLDG
                     SSSIGRSNFREVRSFLEGLVLPFSGAASAQGVRFATVQYSDDPRTEFGLDALGSGGDVI
                     RAIRELSYKGGNTRTGAAILHVADHVFLPQLARPGVPKVCILITDGKSQDLVDTAAQRL
                     KGQGVKLFAVGIKNADPEELKRVASQPTSDFFFFVNDFSILRTLLPLVSRRVCTTAGGV
                     PVTRPPDDSTSAPRDLVLSEPSSQSLRVQWTAASGPVTGYKVQYTPLTGLGQPLPSERQ
                     EVNVPAGETSVRLRGLRPLTEYQVTVIALYANSIGEAVSGTARTTALEGPELTIQNTTA
                     HSLLVAWRSVPGATGYRVTWRVLSGGPTQQQELGPGQGSVLLRDLEPGTDYEVTVSTLF
                     GRSVGPATSLMARTDASVEQTLRPVILGPTSILLSWNLVPEARGYRLEWRRETGLEPPQ
                     KVVLPSDVTRYQLDGLQPGTEYRLTLYTLLEGHEVATPATVVPTGPELPVSPVTDLQAT
                     ELPGQRVRVSWSPVPGATQYRIIVRSTQGVERTLVLPGSQTAFDLDDVQAGLSYTVRVS
                     ARVGPREGSASVLTVRREPETPLAVPGLRVVVSDATRVRVAWGPVPGASGFRISWSTGS
                     GPESSQTLPPDSTATDITGLQPGTTYQVAVSVLRGREEGPAAVIVARTDPLGPVRTVHV
                     TQASSSSVTITWTRVPGATGYRVSWHSAHGPEKSQLVSGEATVAELDGLEPDTEYTVHV
                     RAHVAGVDGPPASVVVRTAPEPVGRVSRLQILNASSDVLRITWVGVTGATAYRLAWGRS
                     EGGPMRHQILPGNTDSAEIRGLEGGVSYSVRVTALVGDREGTPVSIVVTTPPEAPPALG
                     TLHVVQRGEHSLRLRWEPVPRAQGFLLHWQPEGGQEQSRVLGPELSSYHLDGLEPATQY
                     RVRLSVLGPAGEGPSAEVTARTESPRVPSIELRVVDTSIDSVTLAWTPVSRASSYILSW
                     RPLRGPGQEVPGSPQTLPGISSSQRVTGLEPGVSYIFSLTPVLDGVRGPEASVTQTPVC
                     PRGLADVVFLPHATQDNAHRAEATRRVLERLVLALGPLGPQAVQVGLLSYSHRPSPLFP
                     LNGSHDLGIILQRIRDMPYMDPSGNNLGTAVVTAHRYMLAPDAPGRRQHVPGVMVLLVD
                     EPLRGDIFSPIREAQASGLNVVMLGMAGADPEQLRRLAPGMDSVQTFFAVDDGPSLDQA
                     VSGLATALCQASFTTQPRPEPCPVYCPKGQKGEPGEMGLRGQVGPPGDPGLPGRTGAPG
                     PQGPPGSATAKGERGFPGADGRPGSPGRAGNPGTPGAPGLKGSPGLPGPRGDPGERGPR
                     GPKGEPGAPGQVIGGEGPGLPGRKGDPGPSGPPGPRGPLGDPGPRGPPGLPGTAMKGDK
                     GDRGERGPPGPGEGGIAPGEPGLPGLPGSPGPQGPVGPPGKKGEKGDSEDGAPGLPGQP
                     GSPGEQGPRGPPGAIGPKGDRGFPGPLGEAGEKGERGPPGPAGSRGLPGVAGRPGAKGP
                     EGPPGPTGRQGEKGEPGRPGDPAVVGPAVAGPKGEKGDVGPAGPRGATGVQGERGPPGL
                     VLPGDPGPKGDPGDRGPIGLTGRAGPPGDSGPPGEKGDPGRPGPPGPVGPRGRDGEVGE
                     KGDEGPPGDPGLPGKAGERGLRGAPGVRGPVGEKGDQGDPGEDGRNGSPGSSGPKGDRG
                     EPGPPGPPGRLVDTGPGAREKGEPGDRGQEGPRGPKGDPGLPGAPGERGIEGFRGPPGP
                     QGDPGVRGPAGEKGDRGPPGLDGRSGLDGKPGAAGPSGPNGAAGKAGDPGRDGLPGLRG
                     EQGLPGPSGPPGLPGKPGEDGKPGLNGKNGEPGDPGEDGRKGEKGDSGASGREGRDGPK
                     GERGAPGILGPQGPPGLPGPVGPPGQGFPGVPGGTGPKGDRGETGSKGEQGLPGERGLR
                     GEPGSVPNVDRLLETAGIKASALREIVETWDESSGSFLPVPERRRGPKGDSGEQGPPGK
                     EGPIGFPGERGLKGDRGDPGPQGPPGLALGERGPPGPSGLAGEPGKPGIPGLPGRAGGV
                     GEAGRPGERGERGEKGERGEQGRDGPPGLPGTPGPPGPPGPKVSVDEPGPGLSGEQGPP
                     GLKGAKGEPGSNGDQGPKGDRGVPGIKGDRGEPGPRGQDGNPGLPGERGMAGPEGKPGL
                     QGPRGPPGPVGGHGDPGPPGAPGLAGPAGPQGPSGLKGEPGETGPPGRGLTGPTGAVGL
                     PGPPGPSGLVGPQGSPGLPGQVGETGKPGAPGRDGASGKDGDRGSPGVPGSPGLPGPVG
                     PKGEPGPTGAPGQAVVGLPGAKGEKGAPGGLAGDLVGEPGAKGDRGLPGPRGEKGEAGR
                     AGEPGDPGEDGQKGAPGPKGFKGDPGVGVPGSPGPPGPPGVKGDLGLPGLPGAPGVVGF
                     PGQTGPRGEMGQPGPSGERGLAGPPGREGIPGPLGPPGPPGSVGPPGASGLKGDKGDPG
                     VGLPGPRGERGEPGIRGEDGRPGQEGPRGLTGPPGSRGERGEKGDVGSAGLKGDKGDSA
                     VILGPPGPRGAKGDMGERGPRGLDGDKGPRGDNGDPGDKGSKGEPGDKGSAGLPGLRGL
                     LGPQGQPGAAGIPGDPGSPGKDGVPGIRGEKGDVGFMGPRGLKGERGVKGACGLDGEKG
                     DKGEAGPPGRPGLAGHKGEMGEPGVPGQSGAPGKEGLIGPKGDRGFDGQPGPKGDQGEK
                     GERGTPGIGGFPGPSGNDGSAGPPGPPGSVGPRGPEGLQGQKGERGPPGERVVGAPGVP
                     GAPGERGEQGRPGPAGPRGEKGEAALTEDDIRGFVRQEMSQHCACQGQFIASGSRPLPS
                     YAADTAGSQLHAVPVLRVSHAEEEERVPPEDDEYSEYSEYSVEEYQDPEAPWDSDDPCS
                     LPLDEGSCTAYTLRWYHRAVTGSTEACHPFVYGGCGGNANRFGTREACERRCPPRVVQS
                     QGTGTAQD"
     sig_peptide     64..111
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
     mat_peptide     112..8895
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /product="collagen alpha-1(VII) chain"
     misc_feature    112..3822
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02388.2);
                     Region: Nonhelical region (NC1)"
     misc_feature    1072..1074
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q02388.2); glycosylation site"
     misc_feature    1957..2016
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02388.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2419..2421
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q02388.2); glycosylation site"
     misc_feature    3388..3390
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q02388.2); glycosylation site"
     misc_feature    3571..3579
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02388.2);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    3778..5886
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02388.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3823..8415
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02388.2);
                     Region: Triple-helical region"
     misc_feature    3823..4494
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02388.2);
                     Region: Interrupted collagenous region"
     misc_feature    4063..4071
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02388.2);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    5950..8409
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02388.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    6085..6093
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02388.2);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    6169..6171
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2537292; propagated from
                     UniProtKB/Swiss-Prot (Q02388.2); hydroxylation site"
     misc_feature    6178..6180
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2537292; propagated from
                     UniProtKB/Swiss-Prot (Q02388.2); hydroxylation site"
     misc_feature    6313..6315
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2537292; propagated from
                     UniProtKB/Swiss-Prot (Q02388.2); hydroxylation site"
     misc_feature    6322..6324
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2537292; propagated from
                     UniProtKB/Swiss-Prot (Q02388.2); hydroxylation site"
     misc_feature    6331..6333
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:2537292; propagated from
                     UniProtKB/Swiss-Prot (Q02388.2); hydroxylation site"
     misc_feature    6562..6564
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8051117; propagated from
                     UniProtKB/Swiss-Prot (Q02388.2); hydroxylation site"
     misc_feature    6589..6591
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8051117; propagated from
                     UniProtKB/Swiss-Prot (Q02388.2); hydroxylation site"
     misc_feature    6616..6618
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8051117; propagated from
                     UniProtKB/Swiss-Prot (Q02388.2); hydroxylation site"
     misc_feature    6625..6627
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8051117; propagated from
                     UniProtKB/Swiss-Prot (Q02388.2); hydroxylation site"
     misc_feature    7720..7728
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02388.2);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    7936..7938
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="5-hydroxylysine, alternate.
                     /evidence=ECO:0000269|PubMed:8051117; propagated from
                     UniProtKB/Swiss-Prot (Q02388.2); hydroxylation site"
     misc_feature    7936..7938
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="O-linked (Gal...) hydroxylysine, alternate;
                     propagated from UniProtKB/Swiss-Prot (Q02388.2);
                     glycosylation site"
     misc_feature    7954..7956
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="5-hydroxylysine, alternate.
                     /evidence=ECO:0000269|PubMed:8051117; propagated from
                     UniProtKB/Swiss-Prot (Q02388.2); hydroxylation site"
     misc_feature    7954..7956
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="O-linked (Gal...) hydroxylysine, alternate;
                     propagated from UniProtKB/Swiss-Prot (Q02388.2);
                     glycosylation site"
     misc_feature    8053..8055
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8051117; propagated from
                     UniProtKB/Swiss-Prot (Q02388.2); hydroxylation site"
     misc_feature    8062..8064
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8051117; propagated from
                     UniProtKB/Swiss-Prot (Q02388.2); hydroxylation site"
     misc_feature    8080..8082
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="4-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8051117; propagated from
                     UniProtKB/Swiss-Prot (Q02388.2); hydroxylation site"
     misc_feature    8416..8895
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02388.2);
                     Region: Nonhelical region (NC2)"
     misc_feature    8572..8679
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02388.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    8719..8724
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="Reactive bond. /evidence=ECO:0000250; propagated
                     from UniProtKB/Swiss-Prot (Q02388.2); other site"
     regulatory      9208..9213
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="hexamer: ATTAAA"
     polyA_site      9231
                     /gene="COL7A1"
                     /gene_synonym="EBD1; EBDCT; EBR1; NDNC8"
                     /note="major polyA site"
ORIGIN
        1 gacttttctc tgctctgccc gagagactgc agcggcggcg gcgggagcgg gcggacgcgc
       61 aggatgacgc tgcggcttct ggtggccgcg ctctgcgccg ggatcctggc agaggcgccc
      121 cgagtgcgag cccagcacag ggagagagtg acctgcacgc gcctttacgc cgctgacatt
      181 gtgttcttac tggatggctc ctcatccatt ggccgcagca atttccgcga ggtccgcagc
      241 tttctcgaag ggctggtgct gcctttctct ggagcagcca gtgcacaggg tgtgcgcttt
      301 gccacagtgc agtacagcga tgacccacgg acagagttcg gcctggatgc acttggctct
      361 gggggtgatg tgatccgcgc catccgtgag cttagctaca aggggggcaa cactcgcaca
      421 ggggctgcaa ttctccatgt ggctgaccat gtcttcctgc cccagctggc ccgacctggt
      481 gtccccaagg tctgcatcct gatcacagac gggaagtccc aggacctggt ggacacagct
      541 gcccaaaggc tgaaggggca gggggtcaag ctatttgctg tggggatcaa gaatgctgac
      601 cctgaggagc tgaagcgagt tgcctcacag cccaccagtg acttcttctt cttcgtcaat
      661 gacttcagca tcttgaggac actactgccc ctcgtttccc ggagagtgtg cacgactgct
      721 ggtggcgtgc ctgtgacccg acctccggat gactcgacct ctgctccacg agacctggtg
      781 ctgtctgagc caagcagcca atccttgaga gtacagtgga cagcggccag tggccctgtg
      841 actggctaca aggtccagta cactcctctg acggggctgg gacagccact gccgagtgag
      901 cggcaggagg tgaacgtccc agctggtgag accagtgtgc ggctgcgggg tctccggcca
      961 ctgaccgagt accaagtgac tgtgattgcc ctctacgcca acagcatcgg ggaggctgtg
     1021 agcgggacag ctcggaccac tgccctagaa gggccggaac tgaccatcca gaataccaca
     1081 gcccacagcc tcctggtggc ctggcggagt gtgccaggtg ccactggcta ccgtgtgaca
     1141 tggcgggtcc tcagtggtgg gcccacacag cagcaggagc tgggccctgg gcagggttca
     1201 gtgttgctgc gtgacttgga gcctggcacg gactatgagg tgaccgtgag caccctattt
     1261 ggccgcagtg tggggcccgc cacttccctg atggctcgca ctgacgcttc tgttgagcag
     1321 accctgcgcc cggtcatcct gggccccaca tccatcctcc tttcctggaa cttggtgcct
     1381 gaggcccgtg gctaccggtt ggaatggcgg cgtgagactg gcttggagcc accgcagaag
     1441 gtggtactgc cctctgatgt gacccgctac cagttggatg ggctgcagcc gggcactgag
     1501 taccgcctca cactctacac tctgctggag ggccacgagg tggccacccc tgcaaccgtg
     1561 gttcccactg gaccagagct gcctgtgagc cctgtaacag acctgcaagc caccgagctg
     1621 cccgggcagc gggtgcgagt gtcctggagc ccagtccctg gtgccaccca gtaccgcatc
     1681 attgtgcgca gcacccaggg ggttgagcgg accctggtgc ttcctgggag tcagacagca
     1741 ttcgacttgg atgacgttca ggctgggctt agctacactg tgcgggtgtc tgctcgagtg
     1801 ggtccccgtg agggcagtgc cagtgtcctc actgtccgcc gggagccgga aactccactt
     1861 gctgttccag ggctgcgggt tgtggtgtca gatgcaacgc gagtgagggt ggcctgggga
     1921 cccgtccctg gagccagtgg atttcggatt agctggagca caggcagtgg tccggagtcc
     1981 agccagacac tgcccccaga ctctactgcc acagacatca cagggctgca gcctggaacc
     2041 acctaccagg tggctgtgtc ggtactgcga ggcagagagg agggccctgc tgcagtcatc
     2101 gtggctcgaa cggacccact gggcccagtg aggacggtcc atgtgactca ggccagcagc
     2161 tcatctgtca ccattacctg gaccagggtt cctggcgcca caggatacag ggtttcctgg
     2221 cactcagccc acggcccaga gaaatcccag ttggtttctg gggaggccac ggtggctgag
     2281 ctggatggac tggagccaga tactgagtat acggtgcatg tgagggccca tgtggctggc
     2341 gtggatgggc cccctgcctc tgtggttgtg aggactgccc ctgagcctgt gggtcgtgtg
     2401 tcgaggctgc agatcctcaa tgcttccagc gacgttctac ggatcacctg ggtaggggtc
     2461 actggagcca cagcttacag actggcctgg ggccggagtg aaggcggccc catgaggcac
     2521 cagatactcc caggaaacac agactctgca gagatccggg gtctcgaagg tggagtcagc
     2581 tactcagtgc gagtgactgc acttgtcggg gaccgcgagg gcacacctgt ctccattgtt
     2641 gtcactacgc cgcctgaggc tccgccagcc ctggggacgc ttcacgtggt gcagcgcggg
     2701 gagcactcgc tgaggctgcg ctgggagccg gtgcccagag cgcagggctt ccttctgcac
     2761 tggcaacctg agggtggcca ggaacagtcc cgggtcctgg ggcccgagct cagcagctat
     2821 cacctggacg ggctggagcc agcgacacag taccgcgtga ggctgagtgt cctagggcca
     2881 gctggagaag ggccctctgc agaggtgact gcgcgcactg agtcacctcg tgttccaagc
     2941 attgaactac gtgtggtgga cacctcgatc gactcggtga ctttggcctg gactccagtg
     3001 tccagggcat ccagctacat cctatcctgg cggccactca gaggccctgg ccaggaagtg
     3061 cctgggtccc cgcagacact tccagggatc tcaagctccc agcgggtgac agggctagag
     3121 cctggcgtct cttacatctt ctccctgacg cctgtcctgg atggtgtgcg gggtcctgag
     3181 gcatctgtca cacagacgcc agtgtgcccc cgtggcctgg cggatgtggt gttcctacca
     3241 catgccactc aagacaatgc tcaccgtgcg gaggctacga ggagggtcct ggagcgtctg
     3301 gtgttggcac ttgggcctct tgggccacag gcagttcagg ttggcctgct gtcttacagt
     3361 catcggccct ccccactgtt cccactgaat ggctcccatg accttggcat tatcttgcaa
     3421 aggatccgtg acatgcccta catggaccca agtgggaaca acctgggcac agccgtggtc
     3481 acagctcaca gatacatgtt ggcaccagat gctcctgggc gccgccagca cgtaccaggg
     3541 gtgatggttc tgctagtgga tgaacccttg agaggtgaca tattcagccc catccgtgag
     3601 gcccaggctt ctgggcttaa tgtggtgatg ttgggaatgg ctggagcgga cccagagcag
     3661 ctgcgtcgct tggcgccggg tatggactct gtccagacct tcttcgccgt ggatgatggg
     3721 ccaagcctgg accaggcagt cagtggtctg gccacagccc tgtgtcaggc atccttcact
     3781 actcagcccc ggccagagcc ctgcccagtg tattgtccaa agggccagaa gggggaacct
     3841 ggagagatgg gcctgagagg acaagttggg cctcctggcg accctggcct cccgggcagg
     3901 accggtgctc ccggccccca ggggccccct ggaagtgcca ctgccaaggg cgagaggggc
     3961 ttccctggag cagatgggcg tccaggcagc cctggccgcg ccgggaatcc tgggacccct
     4021 ggagcccctg gcctaaaggg ctctccaggg ttgcctggcc ctcgtgggga cccgggagag
     4081 cgaggacctc gaggcccaaa gggggagccg ggggctcccg gacaagtcat cggaggtgaa
     4141 ggacctgggc ttcctgggcg gaaaggggac cctggaccat cgggcccccc tggacctcgt
     4201 ggaccactgg gggacccagg accccgtggc cccccagggc ttcctggaac agccatgaag
     4261 ggtgacaaag gcgatcgtgg ggagcggggt ccccctggac caggtgaagg tggcattgct
     4321 cctggggagc ctgggctgcc gggtcttccc ggaagccctg gaccccaagg ccccgttggc
     4381 ccccctggaa agaaaggaga aaaaggtgac tctgaggatg gagctccagg cctcccagga
     4441 caacctgggt ctccgggtga gcagggccca cggggacctc ctggagctat tggccccaaa
     4501 ggtgaccggg gctttccagg gcccctgggt gaggctggag agaagggcga acgtggaccc
     4561 ccaggcccag cgggatcccg ggggctgcca ggggttgctg gacgtcctgg agccaagggt
     4621 cctgaagggc caccaggacc cactggccgc caaggagaga agggggagcc tggtcgccct
     4681 ggggaccctg cagtggtggg acctgctgtt gctggaccca aaggagaaaa gggagatgtg
     4741 gggcccgctg ggcccagagg agctaccgga gtccaagggg aacggggccc acccggcttg
     4801 gttcttcctg gagaccctgg ccccaaggga gaccctggag accggggtcc cattggcctt
     4861 actggcagag caggaccccc aggtgactca gggcctcctg gagagaaggg agaccctggg
     4921 cggcctggcc ccccaggacc tgttggcccc cgaggacgag atggtgaagt tggagagaaa
     4981 ggtgacgagg gtcctccggg tgacccgggt ttgcctggaa aagcaggcga gcgtggcctt
     5041 cggggggcac ctggagttcg ggggcctgtg ggtgaaaagg gagaccaggg agatcctgga
     5101 gaggatggac gaaatggcag ccctggatca tctggaccca agggtgaccg tggggagccg
     5161 ggtcccccag gacccccggg acggctggta gacacaggac ctggagccag agagaaggga
     5221 gagcctgggg accgcggaca agagggtcct cgagggccca agggtgatcc tggcctccct
     5281 ggagcccctg gggaaagggg cattgaaggg tttcggggac ccccaggccc acagggggac
     5341 ccaggtgtcc gaggcccagc aggagaaaag ggtgaccggg gtccccctgg gctggatggc
     5401 cggagcggac tggatgggaa accaggagcc gctgggccct ctgggccgaa tggtgctgca
     5461 ggcaaagctg gggacccagg gagagacggg cttccaggcc tccgtggaga acagggcctc
     5521 cctggcccct ctggtccccc tggattaccg ggaaagccag gcgaggatgg caaacctggc
     5581 ctgaatggaa aaaacggaga acctggggac cctggagaag acgggaggaa gggagagaaa
     5641 ggagattcag gcgcctctgg gagagaaggt cgtgatggcc ccaagggtga gcgtggagct
     5701 cctggtatcc ttggacccca ggggcctcca ggcctcccag ggccagtggg ccctcctggc
     5761 cagggttttc ctggtgtccc aggaggcacg ggccccaagg gtgaccgtgg ggagactgga
     5821 tccaaagggg agcagggcct ccctggagag cgtggcctgc gaggagagcc tggaagtgtg
     5881 ccgaatgtgg atcggttgct ggaaactgct ggcatcaagg catctgccct gcgggagatc
     5941 gtggagacct gggatgagag ctctggtagc ttcctgcctg tgcccgaacg gcgtcgaggc
     6001 cccaaggggg actcaggcga acagggcccc ccaggcaagg agggccccat cggctttcct
     6061 ggagaacgcg ggctgaaggg cgaccgtgga gaccctggcc ctcaggggcc acctggtctg
     6121 gcccttgggg agaggggccc ccccgggcct tccggccttg ccggggagcc tggaaagcct
     6181 ggtattcccg ggctcccagg cagggctggg ggtgtgggag aggcaggaag gccaggagag
     6241 aggggagaac ggggagagaa aggagaacgt ggagaacagg gcagagatgg ccctcctgga
     6301 ctccctggaa cccctgggcc ccccggaccc cctggcccca aggtgtctgt ggatgagcca
     6361 ggtcctggac tctctggaga acagggaccc cctggactca agggtgctaa gggggagccg
     6421 ggcagcaatg gtgaccaagg tcccaaagga gacaggggtg tgccaggcat caaaggagac
     6481 cggggagagc ctggaccgag gggtcaggac ggcaacccgg gtctaccagg agagcgtggt
     6541 atggctgggc ctgaagggaa gccgggtctg cagggtccaa gaggcccccc tggcccagtg
     6601 ggtggtcatg gagaccctgg accacctggt gccccgggtc ttgctggccc tgcaggaccc
     6661 caaggacctt ctggcctgaa gggggagcct ggagagacag gacctccagg acggggcctg
     6721 actggaccta ctggagctgt gggacttcct ggaccccccg gcccttcagg ccttgtgggt
     6781 ccacaggggt ctccaggttt gcctggacaa gtgggggaga cagggaagcc gggagcccca
     6841 ggtcgagatg gtgccagtgg aaaagatgga gacagaggga gccctggtgt gccagggtca
     6901 ccaggtctgc ctggccctgt cggacctaaa ggagaacctg gccccacggg ggcccctgga
     6961 caggctgtgg tcgggctccc tggagcaaag ggagagaagg gagcccctgg aggccttgct
     7021 ggagacctgg tgggtgagcc gggagccaaa ggtgaccgag gactgccagg gccgcgaggc
     7081 gagaagggtg aagctggccg tgcaggggag cccggagacc ctggggaaga tggtcagaaa
     7141 ggggctccag gacccaaagg tttcaagggt gacccaggag tcggggtccc gggctcccct
     7201 gggcctcctg gccctccagg tgtgaaggga gatctgggcc tccctggcct gcccggtgct
     7261 cctggtgttg ttgggttccc gggtcagaca ggccctcgag gagagatggg tcagccaggc
     7321 cctagtggag agcggggtct ggcaggcccc ccagggagag aaggaatccc aggacccctg
     7381 gggccacctg gaccaccggg gtcagtggga ccacctgggg cctctggact caaaggagac
     7441 aagggagacc ctggagtagg gctgcctggg ccccgaggcg agcgtgggga gccaggcatc
     7501 cggggtgaag atggccgccc cggccaggag ggaccccgag gactcacggg gccccctggc
     7561 agcaggggag agcgtgggga gaagggtgat gttgggagtg caggactaaa gggtgacaag
     7621 ggagactcag ctgtgatcct ggggcctcca ggcccacggg gtgccaaggg ggacatgggt
     7681 gaacgagggc ctcggggctt ggatggtgac aaaggacctc ggggagacaa tggggaccct
     7741 ggtgacaagg gcagcaaggg agagcctggt gacaagggct cagccgggtt gccaggactg
     7801 cgtggactcc tgggacccca gggtcaacct ggtgcagcag ggatccctgg tgacccggga
     7861 tccccaggaa aggatggagt gcctggtatc cgaggagaaa aaggagatgt tggcttcatg
     7921 ggtccccggg gcctcaaggg tgaacgggga gtgaagggag cctgtggcct tgatggagag
     7981 aagggagaca agggagaagc tggtccccca ggccgccccg ggctggcagg acacaaagga
     8041 gagatggggg agcctggtgt gccgggccag tcgggggccc ctggcaagga gggcctgatc
     8101 ggtcccaagg gtgaccgagg ctttgacggg cagccaggcc ccaagggtga ccagggcgag
     8161 aaaggggagc ggggaacccc aggaattggg ggcttcccag gccccagtgg aaatgatggc
     8221 tctgctggtc ccccagggcc acctggcagt gttggtccca gaggccccga aggacttcag
     8281 ggccagaagg gtgagcgagg tccccccgga gagagagtgg tgggggctcc tggggtccct
     8341 ggagctcctg gcgagagagg ggagcagggg cggccagggc ctgccggtcc tcgaggcgag
     8401 aagggagaag ctgcactgac ggaggatgac atccggggct ttgtgcgcca agagatgagt
     8461 cagcactgtg cctgccaggg ccagttcatc gcatctggat cacgacccct ccctagttat
     8521 gctgcagaca ctgccggctc ccagctccat gctgtgcctg tgctccgcgt ctctcatgca
     8581 gaggaggaag agcgggtacc ccctgaggat gatgagtact ctgaatactc cgagtattct
     8641 gtggaggagt accaggaccc tgaagctcct tgggatagtg atgacccctg ttccctgcca
     8701 ctggatgagg gctcctgcac tgcctacacc ctgcgctggt accatcgggc tgtgacaggc
     8761 agcacagagg cctgtcaccc ttttgtctat ggtggctgtg gagggaatgc caaccgtttt
     8821 gggacccgtg aggcctgcga gcgccgctgc ccaccccggg tggtccagag ccaggggaca
     8881 ggtactgccc aggactgagg cccagataat gagctgagat tcagcatccc ctggaggagt
     8941 cggggtctca gcagaacccc actgtccctc cccttggtgc tagaggcttg tgtgcacgtg
     9001 agcgtgcgtg tgcacgtccg ttatttcagt gacttggtcc cgtgggtcta gccttccccc
     9061 ctgtggacaa acccccattg tggctcctgc caccctggca gatgactcac tgtggggggg
     9121 tggctgtggg cagtgagcgg atgtgactgg cgtctgaccc gccccttgac ccaagcctgt
     9181 gatgacatgg tgctgattct ggggggcatt aaagctgctg ttttaaaagg c
//
LOCUS       NM_000095               2452 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.
ACCESSION   NM_000095
VERSION     NM_000095.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2452)
  AUTHORS   Yin L, Zhu Y, Jiang W, Song Y, Lu Y, Tao D, Liu Y and Ma Y.
  TITLE     Functional characterization of a rare pathogenic variant c.875G > A,
            p.(Cys292Tyr) in COMP
  JOURNAL   Ann Hum Genet 87 (5), 241-247 (2023)
   PUBMED   37461830
  REMARK    GeneRIF: Functional characterization of a rare pathogenic variant
            c.875G > A, p.(Cys292Tyr) in COMP.
REFERENCE   2  (bases 1 to 2452)
  AUTHORS   Blom AM, Gialeli C, Hagerling C, Berntsson J, Jirstrom K and
            Papadakos KS.
  TITLE     Expression of Cartilage Oligomeric Matrix Protein in colorectal
            cancer is an adverse prognostic factor and correlates negatively
            with infiltrating immune cells and PD-L1 expression
  JOURNAL   Front Immunol 14, 1167659 (2023)
   PUBMED   37207219
  REMARK    GeneRIF: Expression of Cartilage Oligomeric Matrix Protein in
            colorectal cancer is an adverse prognostic factor and correlates
            negatively with infiltrating immune cells and PD-L1 expression.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2452)
  AUTHORS   Ma H, Qiu Q, Tan D, Chen Q, Liu Y, Chen B and Wang M.
  TITLE     The Cancer-Associated Fibroblasts-Related Gene COMP Is a Novel
            Predictor for Prognosis and Immunotherapy Efficacy and Is Correlated
            with M2 Macrophage Infiltration in Colon Cancer
  JOURNAL   Biomolecules 13 (1), 62 (2022)
   PUBMED   36671447
  REMARK    GeneRIF: The Cancer-Associated Fibroblasts-Related Gene COMP Is a
            Novel Predictor for Prognosis and Immunotherapy Efficacy and Is
            Correlated with M2 Macrophage Infiltration in Colon Cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2452)
  AUTHORS   Ding JT, Zhou HN, Huang YF, Peng J, Huang HY, Yi H, Zong Z and Ning
            ZK.
  TITLE     TGF-beta Pathways Stratify Colorectal Cancer into Two Subtypes with
            Distinct Cartilage Oligomeric Matrix Protein (COMP)
            Expression-Related Characteristics
  JOURNAL   Biomolecules 12 (12), 1877 (2022)
   PUBMED   36551305
  REMARK    GeneRIF: TGF-beta Pathways Stratify Colorectal Cancer into Two
            Subtypes with Distinct Cartilage Oligomeric Matrix Protein (COMP)
            Expression-Related Characteristics. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2452)
  AUTHORS   Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG,
            Mortier GR, Rimoin DL, Lachman RS, Gaines ES et al.
  TITLE     Pseudoachondroplasia and multiple epiphyseal dysplasia due to
            mutations in the cartilage oligomeric matrix protein gene
  JOURNAL   Nat Genet 10 (3), 330-336 (1995)
   PUBMED   7670472
REFERENCE   6  (bases 1 to 2452)
  AUTHORS   Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FF, Harrison WR,
            Francomano CA, Prange CK, Lennon GG, Deere M et al.
  TITLE     Mutations in exon 17B of cartilage oligomeric matrix protein (COMP)
            cause pseudoachondroplasia
  JOURNAL   Nat Genet 10 (3), 325-329 (1995)
   PUBMED   7670471
REFERENCE   7  (bases 1 to 2452)
  AUTHORS   Mansson B, Carey D, Alini M, Ionescu M, Rosenberg LC, Poole AR,
            Heinegard D and Saxne T.
  TITLE     Cartilage and bone metabolism in rheumatoid arthritis. Differences
            between rapid and slow progression of disease identified by serum
            markers of cartilage metabolism
  JOURNAL   J Clin Invest 95 (3), 1071-1077 (1995)
   PUBMED   7533784
REFERENCE   8  (bases 1 to 2452)
  AUTHORS   Newton G, Weremowicz S, Morton CC, Copeland NG, Gilbert DJ, Jenkins
            NA and Lawler J.
  TITLE     Characterization of human and mouse cartilage oligomeric matrix
            protein
  JOURNAL   Genomics 24 (3), 435-439 (1994)
   PUBMED   7713493
REFERENCE   9  (bases 1 to 2452)
  AUTHORS   Briggs,M.D. and Wright,M.J.
  TITLE     Pseudoachondroplasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301660
REFERENCE   10  (bases 1 to 2452)
  AUTHORS   Briggs,M.D., Wright,M.J. and Mortier,G.R.
  TITLE     Multiple Epiphyseal Dysplasia, Autosomal Dominant
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301302
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK223216.1, SRR1660809.75424.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467144
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000222271.7/ ENSP00000222271.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU120397.1, BC033676.1 and
            L32137.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000095.2.
            Summary: The protein encoded by this gene is a noncollagenous
            extracellular matrix (ECM) protein. It consists of five identical
            glycoprotein subunits, each with EGF-like and calcium-binding
            (thrombospondin-like) domains. Oligomerization results from
            formation of a five-stranded coiled coil and disulfides. Binding to
            other ECM proteins such as collagen appears to depend on divalent
            cations. Contraction or expansion of a 5 aa aspartate repeat and
            other mutations can cause pseudochondroplasia (PSACH) and multiple
            epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2452
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..2452
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="cartilage oligomeric matrix protein"
                     /db_xref="GeneID:1311"
                     /db_xref="HGNC:HGNC:2227"
                     /db_xref="MIM:600310"
     CDS             37..2310
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="pseudoachondroplasia (epiphyseal dysplasia 1,
                     multiple); thrombospondin-5; multiple epiphyseal dysplasia;
                     cartilage oligomeric matrix protein (pseudoachondroplasia,
                     epiphyseal dysplasia 1, multiple)"
                     /codon_start=1
                     /product="cartilage oligomeric matrix protein precursor"
                     /protein_id="NP_000086.2"
                     /db_xref="CCDS:CCDS12385.1"
                     /db_xref="GeneID:1311"
                     /db_xref="HGNC:HGNC:2227"
                     /db_xref="MIM:600310"
                     /translation="MVPDTACVLLLTLAALGASGQGQSPLGSDLGPQMLRELQETNAAL
                     QDVRELLRQQVREITFLKNTVMECDACGMQQSVRTGLPSVRPLLHCAPGFCFPGVACIQ
                     TESGARCGPCPAGFTGNGSHCTDVNECNAHPCFPRVRCINTSPGFRCEACPPGYSGPTH
                     QGVGLAFAKANKQVCTDINECETGQHNCVPNSVCINTRGSFQCGPCQPGFVGDQASGCQ
                     RRAQRFCPDGSPSECHEHADCVLERDGSRSCVCAVGWAGNGILCGRDTDLDGFPDEKLR
                     CPERQCRKDNCVTVPNSGQEDVDRDGIGDACDPDADGDGVPNEKDNCPLVRNPDQRNTD
                     EDKWGDACDNCRSQKNDDQKDTDQDGRGDACDDDIDGDRIRNQADNCPRVPNSDQKDSD
                     GDGIGDACDNCPQKSNPDQADVDHDFVGDACDSDQDQDGDGHQDSRDNCPTVPNSAQED
                     SDHDGQGDACDDDDDNDGVPDSRDNCRLVPNPGQEDADRDGVGDVCQDDFDADKVVDKI
                     DVCPENAEVTLTDFRAFQTVVLDPEGDAQIDPNWVVLNQGREIVQTMNSDPGLAVGYTA
                     FNGVDFEGTFHVNTVTDDDYAGFIFGYQDSSSFYVVMWKQMEQTYWQANPFRAVAEPGI
                     QLKAVKSSTGPGEQLRNALWHTGDTESQVRLLWKDPRNVGWKDKKSYRWFLQHRPQVGY
                     IRVRFYEGPELVADSNVVLDTTMRGGRLGVFCFSQENIIWANLRYRCNDTIPEDYETHQ
                     LRQA"
     sig_peptide     37..96
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P49747.2)"
     mat_peptide     97..2307
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /product="Cartilage oligomeric matrix protein.
                     /id=PRO_0000035857"
                     /note="propagated from UniProtKB/Swiss-Prot (P49747.2)"
     misc_feature    100..294
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="propagated from UniProtKB/Swiss-Prot (P49747.2);
                     Region: COMP N-terminal"
     misc_feature    397..399
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P49747.2); glycosylation site"
     misc_feature    838..936
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="propagated from UniProtKB/Swiss-Prot (P49747.2);
                     Region: TSP type-3 1"
     misc_feature    928..1545
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="propagated from UniProtKB/Swiss-Prot (P49747.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1135..1143
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="propagated from UniProtKB/Swiss-Prot (P49747.2);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    1441..1455
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="5D repeat; Region: polyaspartate repeat"
     misc_feature    1513..1620
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="propagated from UniProtKB/Swiss-Prot (P49747.2);
                     Region: TSP type-3 8"
     misc_feature    1615..2307
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="propagated from UniProtKB/Swiss-Prot (P49747.2);
                     Region: Mediates cell survival and induction of the IAP
                     family of survival proteins"
     misc_feature    2260..2262
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19276170; propagated from
                     UniProtKB/Swiss-Prot (P49747.2); glycosylation site"
     regulatory      2432..2437
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="hexamer: AATAAA"
     polyA_site      2452
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="major polyA site"
ORIGIN
        1 agaaagcgag cagccaccca gctccccgcc accgccatgg tccccgacac cgcctgcgtt
       61 cttctgctca ccctggctgc cctcggcgcg tccggacagg gccagagccc gttgggctca
      121 gacctgggcc cgcagatgct tcgggaactg caggaaacca acgcggcgct gcaggacgtg
      181 cgggagctgc tgcggcagca ggtcagggag atcacgttcc tgaaaaacac ggtgatggag
      241 tgtgacgcgt gcgggatgca gcagtcagta cgcaccggcc tacccagcgt gcggcccctg
      301 ctccactgcg cgcccggctt ctgcttcccc ggcgtggcct gcatccagac ggagagcggc
      361 gcgcgctgcg gcccctgccc cgcgggcttc acgggcaacg gctcgcactg caccgacgtc
      421 aacgagtgca acgcccaccc ctgcttcccc cgagtccgct gtatcaacac cagcccgggg
      481 ttccgctgcg aggcttgccc gccggggtac agcggcccca cccaccaggg cgtggggctg
      541 gctttcgcca aggccaacaa gcaggtttgc acggacatca acgagtgtga gaccgggcaa
      601 cataactgcg tccccaactc cgtgtgcatc aacacccggg gctccttcca gtgcggcccg
      661 tgccagcccg gcttcgtggg cgaccaggcg tccggctgcc agcggcgcgc acagcgcttc
      721 tgccccgacg gctcgcccag cgagtgccac gagcatgcag actgcgtcct agagcgcgat
      781 ggctcgcggt cgtgcgtgtg tgccgttggc tgggccggca acgggatcct ctgtggtcgc
      841 gacactgacc tagacggctt cccggacgag aagctgcgct gcccggagcg ccagtgccgt
      901 aaggacaact gcgtgactgt gcccaactca gggcaggagg atgtggaccg cgatggcatc
      961 ggagacgcct gcgatccgga tgccgacggg gacggggtcc ccaatgaaaa ggacaactgc
     1021 ccgctggtgc ggaacccaga ccagcgcaac acggacgagg acaagtgggg cgatgcgtgc
     1081 gacaactgcc ggtcccagaa gaacgacgac caaaaggaca cagaccagga cggccggggc
     1141 gatgcgtgcg acgacgacat cgacggcgac cggatccgca accaggccga caactgccct
     1201 agggtaccca actcagacca gaaggacagt gatggcgatg gtatagggga tgcctgtgac
     1261 aactgtcccc agaagagcaa cccggatcag gcggatgtgg accacgactt tgtgggagat
     1321 gcttgtgaca gcgatcaaga ccaggatgga gacggacatc aggactctcg ggacaactgt
     1381 cccacggtgc ctaacagtgc ccaggaggac tcagaccacg atggccaggg tgatgcctgc
     1441 gacgacgacg acgacaatga cggagtccct gacagtcggg acaactgccg cctggtgcct
     1501 aaccccggcc aggaggacgc ggacagggac ggcgtgggcg acgtgtgcca ggacgacttt
     1561 gatgcagaca aggtggtaga caagatcgac gtgtgtccgg agaacgctga agtcacgctc
     1621 accgacttca gggccttcca gacagtcgtg ctggacccgg agggtgacgc gcagattgac
     1681 cccaactggg tggtgctcaa ccagggaagg gagatcgtgc agacaatgaa cagcgaccca
     1741 ggcctggctg tgggttacac tgccttcaat ggcgtggact tcgagggcac gttccatgtg
     1801 aacacggtca cggatgacga ctatgcgggc ttcatctttg gctaccagga cagctccagc
     1861 ttctacgtgg tcatgtggaa gcagatggag caaacgtatt ggcaggcgaa ccccttccgt
     1921 gctgtggccg agcctggcat ccaactcaag gctgtgaagt cttccacagg ccccggggaa
     1981 cagctgcgga acgctctgtg gcatacagga gacacagagt cccaggtgcg gctgctgtgg
     2041 aaggacccgc gaaacgtggg ttggaaggac aagaagtcct atcgttggtt cctgcagcac
     2101 cggccccaag tgggctacat cagggtgcga ttctatgagg gccctgagct ggtggccgac
     2161 agcaacgtgg tcttggacac aaccatgcgg ggtggccgcc tgggggtctt ctgcttctcc
     2221 caggagaaca tcatctgggc caacctgcgt taccgctgca atgacaccat cccagaggac
     2281 tatgagaccc atcagctgcg gcaagcctag ggaccagggt gaggacccgc cggatgacag
     2341 ccaccctcac cgcggctgga tgggggctct gcacccagcc ccaaggggtg gccgtcctga
     2401 gggggaagtg agaagggctc agagaggaca aaataaagtg tgtgtgcagg ga
//
LOCUS       NM_000096               4452 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens ceruloplasmin (CP), transcript variant 1, mRNA.
ACCESSION   NM_000096
VERSION     NM_000096.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4452)
  AUTHORS   Stallhofer J, Veith L, Diegelmann J, Probst P, Brand S, Schnitzler
            F, Olszak T, Torok H, Mayerle J, Stallmach A and Beigel F.
  TITLE     Iron Deficiency in Inflammatory Bowel Disease Is Associated With Low
            Levels of Vitamin D Modulating Serum Hepcidin and Intestinal
            Ceruloplasmin Expression
  JOURNAL   Clin Transl Gastroenterol 13 (1), e00450 (2022)
   PUBMED   35029158
  REMARK    GeneRIF: Iron Deficiency in Inflammatory Bowel Disease Is Associated
            With Low Levels of Vitamin D Modulating Serum Hepcidin and
            Intestinal Ceruloplasmin Expression. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4452)
  AUTHORS   Zhang Y, Chen Z, Chen JG, Chen XF, Gu DH, Liu ZM, Gao YD and Zheng
            B.
  TITLE     Ceruloplasmin overexpression is associated with oncogenic pathways
            and poorer survival rates in clear-cell renal cell carcinoma
  JOURNAL   FEBS Open Bio 11 (11), 2988-3004 (2021)
   PUBMED   34449964
  REMARK    GeneRIF: Ceruloplasmin overexpression is associated with oncogenic
            pathways and poorer survival rates in clear-cell renal cell
            carcinoma.
REFERENCE   3  (bases 1 to 4452)
  AUTHORS   Lazar-Poloczek E, Romuk E, Rozentryt P, Duda S, Gasior M and
            Wojciechowska C.
  TITLE     Ceruloplasmin as Redox Marker Related to Heart Failure Severity
  JOURNAL   Int J Mol Sci 22 (18), 10074 (2021)
   PUBMED   34576235
  REMARK    GeneRIF: Ceruloplasmin as Redox Marker Related to Heart Failure
            Severity. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4452)
  AUTHORS   Mukae Y, Ito H, Miyata Y, Araki K, Matsuda T, Aibara N, Nakamura Y,
            Matsuo T, Sakai H and Ohyama K.
  TITLE     Ceruloplasmin Levels in Cancer Tissues and Urine Are Significant
            Biomarkers of Pathological Features and Outcome in Bladder Cancer
  JOURNAL   Anticancer Res 41 (8), 3815-3823 (2021)
   PUBMED   34281841
  REMARK    GeneRIF: Ceruloplasmin Levels in Cancer Tissues and Urine Are
            Significant Biomarkers of Pathological Features and Outcome in
            Bladder Cancer.
REFERENCE   5  (bases 1 to 4452)
  AUTHORS   Gregory,A. and Hayflick,S.
  TITLE     Neurodegeneration with Brain Iron Accumulation Disorders Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   23447832
REFERENCE   6  (bases 1 to 4452)
  AUTHORS   Miyajima,H. and Hosoi,Y.
  TITLE     Aceruloplasminemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301666
REFERENCE   7  (bases 1 to 4452)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   8  (bases 1 to 4452)
  AUTHORS   Schilsky ML, Stockert RJ and Pollard JW.
  TITLE     Caeruloplasmin biosynthesis by the human uterus
  JOURNAL   Biochem J 288 (Pt 2) (Pt 2), 657-661 (1992)
   PUBMED   1463466
REFERENCE   9  (bases 1 to 4452)
  AUTHORS   Polosatov,M.V., Klimov,P.K., Masevich,C.G., Samartsev,M.A. and
            Wunsch,E.
  TITLE     Interaction of synthetic human big gastrin with blood proteins of
            man and animals
  JOURNAL   Acta Hepatogastroenterol (Stuttg) 26 (2), 154-159 (1979)
   PUBMED   463490
REFERENCE   10  (bases 1 to 4452)
  AUTHORS   Kingston,I.B., Kingston,B.L. and Putnam,F.W.
  TITLE     Chemical evidence that proteolytic cleavage causes the heterogeneity
            present in human ceruloplasmin preparations
  JOURNAL   Proc Natl Acad Sci U S A 74 (12), 5377-5381 (1977)
   PUBMED   146197
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC146801.1, AK291219.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000264613.11/ ENSP00000264613.6
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093001.2 and AC131209.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000096.3.
            Summary: The protein encoded by this gene is a metalloprotein that
            binds most of the copper in plasma and is involved in the
            peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations
            in this gene cause aceruloplasminemia, which results in iron
            accumulation and tissue damage, and is associated with diabetes and
            neurologic abnormalities. Two transcript variants, one
            protein-coding and the other not protein-coding, have been found
            for this gene. [provided by RefSeq, Feb 2012].
            Transcript Variant: This variant (1) represents the longer,
            protein-coding transcript.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4452
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q24-q25.1"
     gene            1..4452
                     /gene="CP"
                     /gene_synonym="AB073614; CP-2"
                     /note="ceruloplasmin"
                     /db_xref="GeneID:1356"
                     /db_xref="HGNC:HGNC:2295"
                     /db_xref="MIM:117700"
     CDS             38..3235
                     /gene="CP"
                     /gene_synonym="AB073614; CP-2"
                     /EC_number="1.16.3.1"
                     /note="ceruloplasmin (ferroxidase)"
                     /codon_start=1
                     /product="ceruloplasmin precursor"
                     /protein_id="NP_000087.2"
                     /db_xref="CCDS:CCDS3141.1"
                     /db_xref="GeneID:1356"
                     /db_xref="HGNC:HGNC:2295"
                     /db_xref="MIM:117700"
                     /translation="MKILILGIFLFLCSTPAWAKEKHYYIGIIETTWDYASDHGEKKLI
                     SVDTEHSNIYLQNGPDRIGRLYKKALYLQYTDETFRTTIEKPVWLGFLGPIIKAETGDK
                     VYVHLKNLASRPYTFHSHGITYYKEHEGAIYPDNTTDFQRADDKVYPGEQYTYMLLATE
                     EQSPGEGDGNCVTRIYHSHIDAPKDIASGLIGPLIICKKDSLDKEKEKHIDREFVVMFS
                     VVDENFSWYLEDNIKTYCSEPEKVDKDNEDFQESNRMYSVNGYTFGSLPGLSMCAEDRV
                     KWYLFGMGNEVDVHAAFFHGQALTNKNYRIDTINLFPATLFDAYMVAQNPGEWMLSCQN
                     LNHLKAGLQAFFQVQECNKSSSKDNIRGKHVRHYYIAAEEIIWNYAPSGIDIFTKENLT
                     APGSDSAVFFEQGTTRIGGSYKKLVYREYTDASFTNRKERGPEEEHLGILGPVIWAEVG
                     DTIRVTFHNKGAYPLSIEPIGVRFNKNNEGTYYSPNYNPQSRSVPPSASHVAPTETFTY
                     EWTVPKEVGPTNADPVCLAKMYYSAVEPTKDIFTGLIGPMKICKKGSLHANGRQKDVDK
                     EFYLFPTVFDENESLLLEDNIRMFTTAPDQVDKEDEDFQESNKMHSMNGFMYGNQPGLT
                     MCKGDSVVWYLFSAGNEADVHGIYFSGNTYLWRGERRDTANLFPQTSLTLHMWPDTEGT
                     FNVECLTTDHYTGGMKQKYTVNQCRRQSEDSTFYLGERTYYIAAVEVEWDYSPQREWEK
                     ELHHLQEQNVSNAFLDKGEFYIGSKYKKVVYRQYTDSTFRVPVERKAEEEHLGILGPQL
                     HADVGDKVKIIFKNMATRPYSIHAHGVQTESSTVTPTLPGETLTYVWKIPERSGAGTED
                     SACIPWAYYSTVDQVKDLYSGLIGPLIVCRRPYLKVFNPRRKLEFALLFLVFDENESWY
                     LDDNIKTYSDHPEKVNKDDEEFIESNKMHAINGRMFGNLQGLTMHVGDEVNWYLMGMGN
                     EIDLHTVHFHGHSFQYKHRGVYSSDVFDIFPGTYQTLEMFPRTPGIWLLHCHVTDHIHA
                     GMETTYTVLQNEDTKSG"
     sig_peptide     38..94
                     /gene="CP"
                     /gene_synonym="AB073614; CP-2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     95..3232
                     /gene="CP"
                     /gene_synonym="AB073614; CP-2"
                     /product="ceruloplasmin"
     misc_feature    449..451
                     /gene="CP"
                     /gene_synonym="AB073614; CP-2"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:15084671, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19838169; propagated from
                     UniProtKB/Swiss-Prot (P00450.1); glycosylation site"
     misc_feature    1109..1111
                     /gene="CP"
                     /gene_synonym="AB073614; CP-2"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19838169; propagated from
                     UniProtKB/Swiss-Prot (P00450.1); glycosylation site"
     misc_feature    1226..1228
                     /gene="CP"
                     /gene_synonym="AB073614; CP-2"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19838169;
                     propagated from UniProtKB/Swiss-Prot (P00450.1);
                     glycosylation site"
     misc_feature    1799..1801
                     /gene="CP"
                     /gene_synonym="AB073614; CP-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P00450.1); glycosylation site"
     misc_feature    2201..2203
                     /gene="CP"
                     /gene_synonym="AB073614; CP-2"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P00450.1); phosphorylation site"
     misc_feature    2321..2323
                     /gene="CP"
                     /gene_synonym="AB073614; CP-2"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P00450.1); glycosylation site"
     misc_feature    2813..2815
                     /gene="CP"
                     /gene_synonym="AB073614; CP-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P00450.1); glycosylation site"
     regulatory      3339..3344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CP"
                     /gene_synonym="AB073614; CP-2"
                     /note="hexamer: ATTAAA"
     polyA_site      3361
                     /gene="CP"
                     /gene_synonym="AB073614; CP-2"
                     /note="major polyA site"
     polyA_site      4063
                     /gene="CP"
                     /gene_synonym="AB073614; CP-2"
                     /note="major polyA site"
     regulatory      4423..4428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CP"
                     /gene_synonym="AB073614; CP-2"
                     /note="hexamer: AATAAA"
     polyA_site      4452
                     /gene="CP"
                     /gene_synonym="AB073614; CP-2"
                     /note="major polyA site"
ORIGIN
        1 acttcatttc ttctcaggct ccaagaaggg gaaaaaaatg aagattttga tacttggtat
       61 ttttctgttt ttatgtagta ccccagcctg ggcgaaagaa aagcattatt acattggaat
      121 tattgaaacg acttgggatt atgcctctga ccatggggaa aagaaactta tttctgttga
      181 cacggaacat tccaatatct atcttcaaaa tggcccagat agaattggga gactatataa
      241 gaaggccctt tatcttcagt acacagatga aacctttagg acaactatag aaaaaccggt
      301 ctggcttggg tttttaggcc ctattatcaa agctgaaact ggagataaag tttatgtaca
      361 cttaaaaaac cttgcctcta ggccctacac ctttcattca catggaataa cttactataa
      421 ggaacatgag ggggccatct accctgataa caccacagat tttcaaagag cagatgacaa
      481 agtatatcca ggagagcagt atacatacat gttgcttgcc actgaagaac aaagtcctgg
      541 ggaaggagat ggcaattgtg tgactaggat ttaccattcc cacattgatg ctccaaaaga
      601 tattgcctca ggactcatcg gacctttaat aatctgtaaa aaagattctc tagataaaga
      661 aaaagaaaaa catattgacc gagaatttgt ggtgatgttt tctgtggtgg atgaaaattt
      721 cagctggtac ctagaagaca acattaaaac ctactgctca gaaccagaga aagttgacaa
      781 agacaacgaa gacttccagg agagtaacag aatgtattct gtgaatggat acacttttgg
      841 aagtctccca ggactctcca tgtgtgctga agacagagta aaatggtacc tttttggtat
      901 gggtaatgaa gttgatgtgc acgcagcttt ctttcacggg caagcactga ctaacaagaa
      961 ctaccgtatt gacacaatca acctctttcc tgctaccctg tttgatgctt atatggtggc
     1021 ccagaaccct ggagaatgga tgctcagctg tcagaatcta aaccatctga aagccggttt
     1081 gcaagccttt ttccaggtcc aggagtgtaa caagtcttca tcaaaggata atatccgtgg
     1141 gaagcatgtt agacactact acattgccgc tgaggaaatc atctggaact atgctccctc
     1201 tggtatagac atcttcacta aagaaaactt aacagcacct ggaagtgact cagcggtgtt
     1261 ttttgaacaa ggtaccacaa gaattggagg ctcttataaa aagctggttt atcgtgagta
     1321 cacagatgcc tccttcacaa atcgaaagga gagaggccct gaagaagagc atcttggcat
     1381 cctgggtcct gtcatttggg cagaggtggg agacaccatc agagtaacct tccataacaa
     1441 aggagcatat cccctcagta ttgagccgat tggggtgaga ttcaataaga acaacgaggg
     1501 cacatactat tccccaaatt acaaccccca gagcagaagt gtgcctcctt cagcctccca
     1561 tgtggcaccc acagaaacat tcacctatga atggactgtc cccaaagaag taggacccac
     1621 taatgcagat cctgtgtgtc tagctaagat gtattattct gctgtggaac ccactaaaga
     1681 tatattcact gggcttattg ggccaatgaa aatatgcaag aaaggaagtt tacatgcaaa
     1741 tgggagacag aaagatgtag acaaggaatt ctatttgttt cctacagtat ttgatgagaa
     1801 tgagagttta ctcctggaag ataatattag aatgtttaca actgcacctg atcaggtgga
     1861 taaggaagat gaagactttc aggaatctaa taaaatgcac tccatgaatg gattcatgta
     1921 tgggaatcag ccgggtctca ctatgtgcaa aggagattcg gtcgtgtggt acttattcag
     1981 cgccggaaat gaggccgatg tacatggaat atacttttca ggaaacacat atctgtggag
     2041 aggagaacgg agagacacag caaacctctt ccctcaaaca agtcttacgc tccacatgtg
     2101 gcctgacaca gaggggactt ttaatgttga atgccttaca actgatcatt acacaggcgg
     2161 catgaagcaa aaatatactg tgaaccaatg caggcggcag tctgaggatt ccaccttcta
     2221 cctgggagag aggacatact atatcgcagc agtggaggtg gaatgggatt attccccaca
     2281 aagggagtgg gaaaaggagc tgcatcattt acaagagcag aatgtttcaa atgcattttt
     2341 agataaggga gagttttaca taggctcaaa gtacaagaaa gttgtgtatc ggcagtatac
     2401 tgatagcaca ttccgtgttc cagtggagag aaaagctgaa gaagaacatc tgggaattct
     2461 aggtccacaa cttcatgcag atgttggaga caaagtcaaa attatcttta aaaacatggc
     2521 cacaaggccc tactcaatac atgcccatgg ggtacaaaca gagagttcta cagttactcc
     2581 aacattacca ggtgaaactc tcacttacgt atggaaaatc ccagaaagat ctggagctgg
     2641 aacagaggat tctgcttgta ttccatgggc ttattattca actgtggatc aagttaagga
     2701 cctctacagt ggattaattg gccccctgat tgtttgtcga agaccttact tgaaagtatt
     2761 caatcccaga aggaaactgg aatttgccct tctgtttcta gtttttgatg agaatgaatc
     2821 ttggtactta gatgacaaca tcaaaacata ctctgatcac cccgagaaag taaacaaaga
     2881 tgatgaggaa ttcatagaaa gcaataaaat gcatgctatt aatggaagaa tgtttggaaa
     2941 cctacaaggc ctcacaatgc acgtgggaga tgaagtcaac tggtatctga tgggaatggg
     3001 caatgaaata gacttacaca ctgtacattt tcacggccat agcttccaat acaagcacag
     3061 gggagtttat agttctgatg tctttgacat tttccctgga acataccaaa ccctagaaat
     3121 gtttccaaga acacctggaa tttggttact ccactgccat gtgaccgacc acattcatgc
     3181 tggaatggaa accacttaca ccgttctaca aaatgaagac accaaatctg gctgaatgaa
     3241 ataaattggt gataagtgga aaaaagagaa aaaccaatga ttcataacaa tgtatgtgaa
     3301 agtgtaaaat agaatgttac tttggaatga ctataaacat taaaagaaga ctggaagcat
     3361 acaactttgt acatttgtgg gggaaaacta ttaatttttt gcaaatggaa agatcaacag
     3421 actatataat gatacatgac tgacacttgt acactaggta ataaaactga ttcatacagt
     3481 ctaatgatat caccgctgtt agggttttat aaaactgcat ttaaaaaaag atctatgacc
     3541 agatattctc ctgggtgctc ctcaaaggaa cactattaag gttcattgaa atgttttcaa
     3601 tcattgcctt cccattgatc cttctaacat gctgttgaca tcacacctaa tattcagagg
     3661 gaatgggcaa ggtatgaggg aaggaaataa aaaataaaat aaataaaata gaatgacaca
     3721 aatttgagtt ttgtgaaccc ctgaacagat ggtcttaagg acgttatctg gaactggaga
     3781 aaagcagagt tgagagacaa ttctatagat taaatcctgg taaggacaaa cattgccatt
     3841 agaagaaaag cttcaaaata gacctgtggc agatgtcaca tgagtagaat ttctgcccag
     3901 ccttaactgc attcagagga taatatcaat gaactaaact tgaactaaaa attttttaaa
     3961 caaaaagtta taaatgaaga cacatggttg tgaatacaat gatgtatttc tttattttca
     4021 catacactct agctaaaaga gcaagagtac acatcaacaa aaatggaaac aaggctttgg
     4081 ctgaaaaaaa catgcatttg acaaatcatg ttaatagcta gacaagaaga aagttagctt
     4141 tgtaaacttc tacttcattt gattcagaga aacagagcat gagttttctt aaaagtaaca
     4201 agaaaaggaa caaaaaaaat gaggtttgaa atcttttacc atggcaaaac attaacatct
     4261 ttctcaaaaa catagagaaa tctggaaaaa tcaagaagat aaaattctgg accagttagt
     4321 gacattcttt caagcatact tgtaaaatgt ttccttaaag tgttcttggg atgaaaatga
     4381 ttgtcatgtc tccaacaaca gtgaactgat gttgttcctt ggaataaaag tcaatcccca
     4441 ccttaaaaaa tg
//
LOCUS       NM_000097               2709 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA; nuclear gene
            for mitochondrial product.
ACCESSION   NM_000097
VERSION     NM_000097.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2709)
  AUTHORS   Hong S, Dobricic V, Ohlei O, Bos I, Vos SJB, Prokopenko D, Tijms BM,
            Andreasson U, Blennow K, Vandenberghe R, Gabel S, Scheltens P,
            Teunissen CE, Engelborghs S, Frisoni G, Blin O, Richardson JC,
            Bordet R, Lleo A, Alcolea D, Popp J, Clark C, Peyratout G,
            Martinez-Lage P, Tainta M, Dobson RJB, Legido-Quigley C, Sleegers K,
            Van Broeckhoven C, Tanzi RE, Ten Kate M, Wittig M, Franke A, Lill
            CM, Barkhof F, Lovestone S, Streffer J, Zetterberg H, Visser PJ and
            Bertram L.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative (ADNI)
  TITLE     TMEM106B and CPOX are genetic determinants of cerebrospinal fluid
            Alzheimer's disease biomarker levels
  JOURNAL   Alzheimers Dement 17 (10), 1628-1640 (2021)
   PUBMED   33991015
  REMARK    GeneRIF: TMEM106B and CPOX are genetic determinants of cerebrospinal
            fluid Alzheimer's disease biomarker levels.
REFERENCE   2  (bases 1 to 2709)
  AUTHORS   Loskove Y, Yasuda M, Chen B, Nazarenko I, Cody N and Desnick RJ.
  TITLE     Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane
            synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen
            oxidase novel mutations
  JOURNAL   Mol Genet Metab 128 (3), 352-357 (2019)
   PUBMED   30385147
  REMARK    GeneRIF: Mount Sinai Porphyrias Diagnostic Laboratory diagnosed 29
            unrelated Hereditary Coproporphyria individuals with 11 previously
            unreported CPOX mutations.
REFERENCE   3  (bases 1 to 2709)
  AUTHORS   Kim DH, Hino R, Adachi Y, Kobori A and Taketani S.
  TITLE     The enzyme engineering of mutant homodimer and heterodimer of
            coproporphyinogen oxidase contributes to new insight into hereditary
            coproporphyria and harderoporphyria
  JOURNAL   J Biochem 154 (6), 551-559 (2013)
   PUBMED   24078084
  REMARK    GeneRIF: The monomer form of mutated CPOX did not show any activity
            and homodimeric enzymes derived from Hereditary coproporphyria (HCP)
            mutant showed low activity (<20% of the control).
REFERENCE   4  (bases 1 to 2709)
  AUTHORS   Woods JS, Heyer NJ, Echeverria D, Russo JE, Martin MD, Bernardo MF,
            Luis HS, Vaz L and Farin FM.
  TITLE     Modification of neurobehavioral effects of mercury by a genetic
            polymorphism of coproporphyrinogen oxidase in children
  JOURNAL   Neurotoxicol Teratol 34 (5), 513-521 (2012)
   PUBMED   22765978
  REMARK    GeneRIF: Polymorphism of coproporphyrinogen oxidase is associated
            with genetic susceptibility to the adverse neurobehavioral effects
            of Hg exposure in children.
REFERENCE   5  (bases 1 to 2709)
  AUTHORS   .
  TITLE     [Polymorphism of TNF gene and CPOX gene in chemical industry
            workers]
  JOURNAL   Med Tr Prom Ekol (11), 29-32 (2011)
   PUBMED   22288185
  REMARK    GeneRIF: CPOX polymorphisms are associated with biological media
            contamination and apoptosis disorders.
REFERENCE   6  (bases 1 to 2709)
  AUTHORS   Lamoril J, Martasek P, Deybach JC, Da Silva V, Grandchamp B and
            Nordmann Y.
  TITLE     A molecular defect in coproporphyrinogen oxidase gene causing
            harderoporphyria, a variant form of hereditary coproporphyria
  JOURNAL   Hum Mol Genet 4 (2), 275-278 (1995)
   PUBMED   7757079
REFERENCE   7  (bases 1 to 2709)
  AUTHORS   Cacheux V, Martasek P, Fougerousse F, Delfau MH, Druart L, Tachdjian
            G and Grandchamp B.
  TITLE     Localization of the human coproporphyrinogen oxidase gene to
            chromosome band 3q12
  JOURNAL   Hum Genet 94 (5), 557-559 (1994)
   PUBMED   7959694
REFERENCE   8  (bases 1 to 2709)
  AUTHORS   Fujita H, Kondo M, Taketani S, Nomura N, Furuyama K, Akagi R, Nagai
            T, Terajima M, Galbraith RA and Sassa S.
  TITLE     Characterization and expression of cDNA encoding coproporphyrinogen
            oxidase from a patient with hereditary coproporphyria
  JOURNAL   Hum Mol Genet 3 (10), 1807-1810 (1994)
   PUBMED   7849704
REFERENCE   9  (bases 1 to 2709)
  AUTHORS   Delfau-Larue MH, Martasek P and Grandchamp B.
  TITLE     Coproporphyrinogen oxidase: gene organization and description of a
            mutation leading to exon 6 skipping
  JOURNAL   Hum Mol Genet 3 (8), 1325-1330 (1994)
   PUBMED   7987309
REFERENCE   10  (bases 1 to 2709)
  AUTHORS   Wang,B. and Bissell,D.M.
  TITLE     Hereditary Coproporphyria
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   23236641
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC023551.2, BC017210.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2151358,
            SAMEA2153307 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000647941.2/ ENSP00000497326.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290140.1, BC017210.2 and
            BC023551.2.
            This sequence is a reference standard in the RefSeqGene project.
            On May 31, 2018 this sequence version replaced NM_000097.6.
            Summary: The protein encoded by this gene is the sixth enzyme of
            the heme biosynthetic pathway. The encoded enzyme is soluble and
            found in the intermembrane space of mitochondria. This enzyme
            catalyzes the stepwise oxidative decarboxylation of
            coproporphyrinogen III to protoporphyrinogen IX, a precursor of
            heme. Defects in this gene are a cause of hereditary coproporphyria
            (HCP).[provided by RefSeq, Oct 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2709
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     gene            1..2709
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /note="coproporphyrinogen oxidase"
                     /db_xref="GeneID:1371"
                     /db_xref="HGNC:HGNC:2321"
                     /db_xref="MIM:612732"
     misc_feature    96..98
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /note="upstream in-frame stop codon"
     CDS             108..1472
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /EC_number="1.3.3.3"
                     /note="coproporphyrinogenase; coprogen oxidase;
                     oxygen-dependent coproporphyrinogen-III oxidase,
                     mitochondrial; homozygous coproporphyria"
                     /codon_start=1
                     /product="oxygen-dependent coproporphyrinogen-III oxidase,
                     mitochondrial precursor"
                     /protein_id="NP_000088.3"
                     /db_xref="CCDS:CCDS2932.1"
                     /db_xref="GeneID:1371"
                     /db_xref="HGNC:HGNC:2321"
                     /db_xref="MIM:612732"
                     /translation="MALQLGRLSSGPCWLVARGGCGGPRAWSQCGGGGLRAWSQRSAAG
                     RVCRPPGPAGTEQSRGLGHGSTSRGGPWVGTGLAAALAGLVGLATAAFGHVQRAEMLPK
                     TSGTRATSLGRPEEEEDELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQAQV
                     CQALAQVDGGANFSVDRWERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEAAKQM
                     RSRGKVLKTKDGKLPFCAMGVSSVIHPKNPHAPTIHFNYRYFEVEEADGNKQWWFGGGC
                     DLTPTYLNQEDAVHFHRTLKEACDQHGPDLYPKFKKWCDDYFFIAHRGERRGIGGIFFD
                     DLDSPSKEEVFRFVQSCARAVVPSYIPLVKKHCDDSFTPQEKLWQQLRRGRYVEFNLLY
                     DRGTKFGLFTPGSRIESILMSLPLTARWEYMHSPSENSKEAEILEVLRHPRDWVR"
     transit_peptide 108..437
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /note="Mitochondrion. /evidence=ECO:0000250; propagated
                     from UniProtKB/Swiss-Prot (P36551.3)"
     misc_feature    234..317
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /note="propagated from UniProtKB/Swiss-Prot (P36551.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     438..1469
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /product="Oxygen-dependent coproporphyrinogen-III oxidase,
                     mitochondrial. /id=PRO_0000006029"
                     /note="propagated from UniProtKB/Swiss-Prot (P36551.3)"
     misc_feature    441..443
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3B7D0; propagated from
                     UniProtKB/Swiss-Prot (P36551.3); phosphorylation site"
     misc_feature    684..713
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /note="propagated from UniProtKB/Swiss-Prot (P36551.3);
                     Region: Important for dimerization. /evidence=ECO:0000305"
     misc_feature    1086..1088
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /note="Important for dimerization; propagated from
                     UniProtKB/Swiss-Prot (P36551.3); other site"
     misc_feature    1281..1391
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /note="propagated from UniProtKB/Swiss-Prot (P36551.3);
                     Region: Important for dimerization"
     misc_feature    1317..1319
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P36552; propagated from
                     UniProtKB/Swiss-Prot (P36551.3); acetylation site"
     regulatory      2682..2687
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /note="hexamer: AATAAA"
     polyA_site      2705
                     /gene="CPOX"
                     /gene_synonym="COX; CPO; CPX; HARPO; HCP"
                     /note="major polyA site"
ORIGIN
        1 ctttccgcct gtgcagctcg ccggctcaat actccggggg tctgggtggg gggctcaaac
       61 gcagggctct gggacgcagg cactgctcca ggtgatagtg cgggaacatg gccttgcagc
      121 tgggcaggct gagctcgggc ccctgctggc tcgtggcgcg gggcggctgc ggagggcccc
      181 gcgcctggtc ccagtgcggc ggcggagggc tccgagcctg gtcccagcgc agcgcagccg
      241 gacgcgtctg ccggccccct ggcccggctg gcacggagca gagccgcggg ctggggcacg
      301 gctcgacgtc gagaggcggc ccctgggtgg ggacagggct ggccgcggcg ctggcggggt
      361 tggtggggct ggccaccgcc gccttcgggc atgtgcagcg ggcggagatg ttgcctaaga
      421 cctcggggac gcgggccact tcgctgggga ggccggagga ggaggaggat gagctggccc
      481 accgctgcag cagcttcatg gccccgcctg tgaccgacct gggcgagctg cgaaggaggc
      541 cgggcgacat gaagaccaag atggagctgc tgattctgga gacccaggcc caggtgtgcc
      601 aggctctggc acaggtagac gggggcgcca acttttctgt ggaccggtgg gagaggaagg
      661 aaggaggtgg cggcatcagc tgtgtacttc aagatgggtg tgttttcgaa aaggctgggg
      721 tgagcatttc tgttgttcat ggaaatcttt cagaggaagc tgcaaaacaa atgagaagca
      781 gaggaaaagt tctgaagact aaagatggta aattgccatt ttgtgctatg ggcgtgagct
      841 ctgttatcca ccccaagaat cctcatgctc ctactatcca tttcaactac agatactttg
      901 aagtagaaga agctgatggc aacaagcagt ggtggtttgg tggtggatgt gacctcactc
      961 caacatactt gaatcaagaa gacgctgtcc attttcacag aactctgaag gaggcttgtg
     1021 accagcatgg tccagatctc taccccaaat ttaaaaaatg gtgtgatgat tacttcttta
     1081 tagcccatcg tggagaacgg cggggcattg gtggtatctt ttttgatgat cttgactctc
     1141 cgtccaagga ggaggtgttt cgctttgtac agagctgtgc cagggctgta gttccttctt
     1201 acattcccct tgtgaaaaag cactgtgatg actcattcac cccccaggag aagctgtggc
     1261 agcagctcag aagaggacgg tatgtagaat ttaatctgct gtatgatcgg ggcacaaagt
     1321 ttggcctctt cactccagga tccagaattg aaagtatctt gatgtcttta cctctaactg
     1381 cccgatggga gtacatgcat tcaccctcag agaattccaa agaagctgaa attctggaag
     1441 ttctacgcca tccaagggac tgggtgcgtt gatgcaggca gaatggctgt gcaggggttt
     1501 ggagggcaca cgatgtgtgc tccccatgcc actggtcggc actttgccac tgtgtggcag
     1561 ttacccgtgc cttagtcttc tccactctgc accctacctc gtgggcagat gataacatgt
     1621 tttggatgct gtcagtgatg aatggtgaga tggcagattg tcagagtcaa ttgattaaac
     1681 ctcatttata cttctagtgt cattttatat gactagttta caaaatagga cattgagttt
     1741 ccaagtattg agataaggga atataaatag tattatatgt atcaggaaat ctctcatctt
     1801 gtttttgttt catgtatttt ttaaagtttt catttgtgcc acaaaaatct gtcgtggaat
     1861 atattttatt ttcattaatt cagtgaagtt gagacttcat agtaatttta gaatgcaact
     1921 tgaaggtaaa aattttactt tgtcaatact gaagtctctg ctgtaatcct tatatatctt
     1981 tctccagaga acataatatt gtcaaataga tacacatttt tctaataggt atttagaagc
     2041 acttgaaata atctctgcat gtgttacaat tcagttattt ctgtagtttg taaactctaa
     2101 agtgacatta ctattatttt agagatgtct aagttgtaat tttgattttt gtggaaccat
     2161 tgtttgttaa tgttgggatt ctctgcactt ttgaatgtga aagcttatat ccctgaattc
     2221 tgatacttaa gagttttcta tttcagacat ctctgtgtgg aagttgagac taagaataat
     2281 cctagggatg tcatgaattt aggcaatgtt tctcatttgg aaaatgaaat gagaaataat
     2341 ttccttcttt aaagcaagta tatatagtat gagaaacttg gaggcatttc atacacacgt
     2401 ttcttaggaa aatggacaca ttgaaaatgt cctctttttt atattagaga ttctgcagct
     2461 ctttgctctt aagagcaaat cacaacagga ttcttaatgt atgatttctt tgttcatata
     2521 ttatgaatgt attattttat ttgcttcgta ataaagttta taaggaagag catctcatac
     2581 atatcattat cgtggaacac gttgaatgtt tgtgattctg tgtggccttt ttggggctgg
     2641 aaaatgtatg aattcttcaa ctgtcttaca agagatctgc taataaattt tattattaaa
     2701 taagactaa
//
LOCUS       NM_000098               2699 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens carnitine palmitoyltransferase 2 (CPT2), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000098
VERSION     NM_000098.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2699)
  AUTHORS   Liu J, Li Y, Xiao Q, Li Y, Peng Y, Gan Y, Shu G, Yi H and Yin G.
  TITLE     Identification of CPT2 as a prognostic biomarker by integrating the
            metabolism-associated gene signature in colorectal cancer
  JOURNAL   BMC Cancer 22 (1), 1038 (2022)
   PUBMED   36195841
  REMARK    GeneRIF: Identification of CPT2 as a prognostic biomarker by
            integrating the metabolism-associated gene signature in colorectal
            cancer. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2699)
  AUTHORS   Liu F, Li X, Yan H, Wu J, Yang Y, He J, Chen J, Jiang Z, Wu F and
            Jiang Z.
  TITLE     Downregulation of CPT2 promotes proliferation and inhibits apoptosis
            through p53 pathway in colorectal cancer
  JOURNAL   Cell Signal 92, 110267 (2022)
   PUBMED   35108639
  REMARK    GeneRIF: Downregulation of CPT2 promotes proliferation and inhibits
            apoptosis through p53 pathway in colorectal cancer.
REFERENCE   3  (bases 1 to 2699)
  AUTHORS   Habib A, Azize NAA, Rahman SA, Yakob Y, Suberamaniam V, Nazri MIBA,
            Abdullah Sani H, Ch'ng GS, Yin LH, Olpin S and Lock-Hock N.
  TITLE     Novel mutations associated with carnitine-acylcarnitine translocase
            and carnitine palmitoyl transferase 2 deficiencies in Malaysia
  JOURNAL   Clin Biochem 98, 48-53 (2021)
   PUBMED   34626609
  REMARK    GeneRIF: Novel mutations associated with carnitine-acylcarnitine
            translocase and carnitine palmitoyl transferase 2 deficiencies in
            Malaysia.
REFERENCE   4  (bases 1 to 2699)
  AUTHORS   Arnold GL, Yester J, McCracken E, Feingold BD and Vockley J.
  TITLE     Successful orthotopic heart transplantation in CPTII deficiency
  JOURNAL   Mol Genet Metab 133 (2), 182-184 (2021)
   PUBMED   34020866
  REMARK    GeneRIF: Successful orthotopic heart transplantation in CPTII
            deficiency.
REFERENCE   5  (bases 1 to 2699)
  AUTHORS   Guo X, Wang A, Wang W, Wang Y, Chen H, Liu X, Xia T, Zhang A, Chen
            D, Qi H, Ling T, Piao HL and Wang HJ.
  TITLE     HRD1 inhibits fatty acid oxidation and tumorigenesis by
            ubiquitinating CPT2 in triple-negative breast cancer
  JOURNAL   Mol Oncol 15 (2), 642-656 (2021)
   PUBMED   33207079
  REMARK    GeneRIF: HRD1 inhibits fatty acid oxidation and tumorigenesis by
            ubiquitinating CPT2 in triple-negative breast cancer.
REFERENCE   6  (bases 1 to 2699)
  AUTHORS   Wieser,T.
  TITLE     Carnitine Palmitoyltransferase II Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301431
REFERENCE   7  (bases 1 to 2699)
  AUTHORS   Taroni F, Verderio E, Fiorucci S, Cavadini P, Finocchiaro G, Uziel
            G, Lamantea E, Gellera C and DiDonato S.
  TITLE     Molecular characterization of inherited carnitine
            palmitoyltransferase II deficiency
  JOURNAL   Proc Natl Acad Sci U S A 89 (18), 8429-8433 (1992)
   PUBMED   1528846
REFERENCE   8  (bases 1 to 2699)
  AUTHORS   Finocchiaro,G., Taroni,F., Rocchi,M., Liras Martin,A., Colombo,I.,
            Tarelli,G.T. and DiDonato,S.
  TITLE     cDNA cloning, sequence analysis, and chromosomal localization of
            human carnitine palmitoyltransferase
  JOURNAL   Proc Natl Acad Sci U S A 88 (23), 10981 (1991)
   PUBMED   1961767
  REMARK    Correction to:[Proc Natl Acad Sci U S A. 1991 Jan 15;88(2):661-5.
            PMID: 1988962]
REFERENCE   9  (bases 1 to 2699)
  AUTHORS   Finocchiaro G, Taroni F, Rocchi M, Martin AL, Colombo I, Tarelli GT
            and DiDonato S.
  TITLE     cDNA cloning, sequence analysis, and chromosomal localization of the
            gene for human carnitine palmitoyltransferase
  JOURNAL   Proc Natl Acad Sci U S A 88 (2), 661-665 (1991)
   PUBMED   1988962
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10981. PMID:
            1961767]
REFERENCE   10  (bases 1 to 2699)
  AUTHORS   Finocchiaro G, Colombo I and DiDonato S.
  TITLE     Purification, characterization and partial amino acid sequences of
            carnitine palmitoyl-transferase from human liver
  JOURNAL   FEBS Lett 274 (1-2), 163-166 (1990)
   PUBMED   2174799
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HM005553.1, U09648.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000371486.4/ ENSP00000360541.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U09648.1 and BU629852.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000098.2.
            Summary: The protein encoded by this gene is a nuclear protein
            which is transported to the mitochondrial inner membrane. Together
            with carnitine palmitoyltransferase I, the encoded protein oxidizes
            long-chain fatty acids in the mitochondria. Defects in this gene
            are associated with mitochondrial long-chain fatty-acid (LCFA)
            oxidation disorders. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     gene            1..2699
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /note="carnitine palmitoyltransferase 2"
                     /db_xref="GeneID:1376"
                     /db_xref="HGNC:HGNC:2330"
                     /db_xref="MIM:600650"
     misc_feature    22..24
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /note="upstream in-frame stop codon"
     CDS             121..2097
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /EC_number="2.3.1.21"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; carnitine palmitoyltransferase II; carnitine
                     O-palmitoyltransferase 2, mitochondrial; CPT II; testicular
                     secretory protein Li 13"
                     /codon_start=1
                     /product="carnitine O-palmitoyltransferase 2, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_000089.1"
                     /db_xref="CCDS:CCDS575.1"
                     /db_xref="GeneID:1376"
                     /db_xref="HGNC:HGNC:2330"
                     /db_xref="MIM:600650"
                     /translation="MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHY
                     QDSLPRLPIPKLEDTIRRYLSAQKPLLNDGQFRKTEQFCKSFENGIGKELHEQLVALDK
                     QNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAIRFL
                     KTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFN
                     STRLPKPSRDELFTDDKARHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSS
                     PAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDSAVFCLCLDDFPIKDLVHLSH
                     NMLHGDGTNRWFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTP
                     QSQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKK
                     QKLSPDAVAQLAFQMAFLRQYGQTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFV
                     REPSRHSAGELQQMMVECSKYHGQLTKEAAMGQGFDRHLFALRHLAAAKGIILPELYLD
                     PAYGQINHNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNARE
                     FLQCVEKALEDMFDALEGKSIKS"
     transit_peptide 121..195
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
     mat_peptide     196..2094
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /product="carnitine O-palmitoyltransferase 2, mitochondrial
                     isoform 1"
     misc_feature    355..357
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P52825; propagated from
                     UniProtKB/Swiss-Prot (P23786.2); acetylation site"
     misc_feature    835..837
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P52825; propagated from
                     UniProtKB/Swiss-Prot (P23786.2); acetylation site"
     misc_feature    1033..1035
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P52825; propagated from
                     UniProtKB/Swiss-Prot (P23786.2); acetylation site"
     misc_feature    1648..1650
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P52825; propagated from
                     UniProtKB/Swiss-Prot (P23786.2); acetylation site"
     misc_feature    1750..1752
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P52825; propagated from
                     UniProtKB/Swiss-Prot (P23786.2); acetylation site"
     regulatory      2676..2681
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /note="hexamer: AATAAA"
     polyA_site      2699
                     /gene="CPT2"
                     /gene_synonym="CPT1; CPTASE; IIAE4"
                     /note="major polyA site"
ORIGIN
        1 ggagaagtgc ctcaggagtc ctgacgcagt gtcttgggcg ctaacggcgg cggcggcctt
       61 gtgtttagac tccagaactc cccacttgcc gcgttctcgc cgccgcaggc tcccgggacg
      121 atggtgcccc gcctgctgct gcgcgcctgg ccccggggcc ccgcggttgg tccgggagcc
      181 cccagtcggc ccctcagcgc cggctccggg cccggccagt acctgcagcg cagcatcgtg
      241 cccaccatgc actaccagga cagcctgccc aggctgccta ttcccaaact tgaagacacc
      301 attaggagat acctcagtgc acagaagcct ctcttgaatg atggccagtt caggaaaaca
      361 gaacaatttt gcaagagttt tgaaaatggg attggaaaag aactgcatga gcagctggtt
      421 gctctggaca aacagaataa acatacaagc tacatttcgg gaccctggtt tgatatgtac
      481 ctatctgctc gagactccgt tgttctgaac tttaatccat ttatggcttt caatcctgac
      541 ccaaaatctg agtataatga ccagctcacc cgggcaacca acatgactgt ttctgccatc
      601 cggtttctga agacactccg ggctggcctt ctggagccag aagtgttcca cttgaaccct
      661 gcaaaaagtg acactatcac cttcaagaga ctcatacgct ttgtgccttc ctctctgtcc
      721 tggtatgggg cctacctggt caatgcgtat cccctggata tgtcccagta ttttcggctt
      781 ttcaactcaa ctcgtttacc caaacccagt cgggatgaac tcttcactga tgacaaggcc
      841 agacacctcc tggtcctaag gaaaggaaat ttttatatct ttgatgtcct ggatcaagat
      901 gggaacattg tgagcccctc ggaaatccag gcacatctga agtacattct ctcagacagc
      961 agccccgccc ccgagtttcc cctggcatac ctgaccagtg agaaccgaga catctgggca
     1021 gagctcaggc agaagctgat gagtagtggc aatgaggaga gcctgaggaa agtggactcg
     1081 gcagtgttct gtctctgcct agatgacttc cccattaagg accttgtcca cttgtcccac
     1141 aatatgctgc atggggatgg cacaaaccgc tggtttgata aatcctttaa cctcattatc
     1201 gccaaggatg gctctactgc cgtccacttt gagcactctt ggggtgatgg tgtggcagtg
     1261 ctcagatttt ttaatgaagt atttaaagac agcactcaga cccctgccgt cactccacag
     1321 agccagccag ctaccactga ctctactgtc acggtgcaga aactcaactt cgagctgact
     1381 gatgccttaa agactggcat cacagctgct aaggaaaagt ttgatgccac catgaaaacc
     1441 ctcactattg actgcgtcca gtttcagaga ggaggcaaag aattcctgaa gaagcaaaag
     1501 ctgagccctg acgcagttgc ccagctggca ttccagatgg ccttcctgcg gcagtacggg
     1561 cagacagtgg ccacctacga gtcctgtagc actgccgcat tcaagcacgg ccgcactgag
     1621 accatccgcc cggcctccgt ctatacaaag aggtgctctg aggcctttgt cagggagccc
     1681 tccaggcaca gtgctggtga gcttcagcag atgatggttg agtgctccaa gtaccatggc
     1741 cagctgacca aagaagcagc aatgggccag ggctttgacc gacacttgtt tgctctgcgg
     1801 catctggcag cagccaaagg gatcatcttg cctgagctct acctggaccc tgcatacggg
     1861 cagataaacc acaatgtcct gtccacgagc acactgagca gcccagcagt gaaccttggg
     1921 ggctttgccc ctgtggtctc tgatggcttt ggtgttgggt atgctgttca tgacaactgg
     1981 ataggctgca atgtctcttc ctacccaggc cgcaatgccc gggagtttct ccaatgtgtg
     2041 gagaaggcct tagaagacat gtttgatgcc ttagaaggca aatccatcaa aagttaactt
     2101 ctgggcagat gaaaagctac catcacttcc tcatcatgaa aactgggagg ccgggcatgg
     2161 tggctcatgc ctgtaatccc agcattttga gaggctgagg cgggtggatc acttgaggtc
     2221 aggagtttga gaccaacctg gccaacatgg tgaaaccttg tctctactaa aaatacaaaa
     2281 attagctggg tgtggtggca tgtgcctata atcccagcta cttgggaggt tgaagcagaa
     2341 ttgcttgaac ccaggaggtg gaggttgcag tgagctgaga tcacaccact gcactccggc
     2401 ctgggcgaca gagcgagact gtctcaaaaa aacaaaaaag aaaaaaaaac tggggcctgt
     2461 gtagccagtg ggtgctattc tgtgaaacta atcataagct gcctaggcag ccagctacag
     2521 gcttgagctt taaattcatg gttttaaagc taaacgtaat ttccacttgg gactagatca
     2581 caactgaaga taacaagaga tttaagtttt aagggcattt aatcaggagg aaaggtttgg
     2641 aaaactaact caggtgtatt tattgtttaa gcagaaataa agtttaattt ttgcttgaa
//
LOCUS       NM_000099                793 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens cystatin C (CST3), transcript variant 1, mRNA.
ACCESSION   NM_000099
VERSION     NM_000099.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 793)
  AUTHORS   Mayanja R, Machipisa T, Soremekun O, Kamiza AB, Kintu C, Kalungi A,
            Kalyesubula R, Sande OJ, Jjingo D, Fabian J, Robinson-Cohen C,
            Franceschini N, Nitsch D, Nyirenda M, Zeggini E, Morris AP,
            Chikowore T and Fatumo S.
  TITLE     Genome-wide association analysis of cystatin-C kidney function in
            continental Africa
  JOURNAL   EBioMedicine 95, 104775 (2023)
   PUBMED   37639939
  REMARK    GeneRIF: Genome-wide association analysis of cystatin-C kidney
            function in continental Africa.
REFERENCE   2  (bases 1 to 793)
  AUTHORS   Fujita Y, Shinkai S, Taniguchi Y, Miura Y, Tanaka M, Ohsawa I,
            Kitamura A and Ito M.
  TITLE     Association Between Serum GDF15 Concentration and Total Mortality in
            Community-Dwelling Japanese Older Populations: The Involvement of
            Renal Dysfunction
  JOURNAL   J Gerontol A Biol Sci Med Sci 78 (9), 1701-1707 (2023)
   PUBMED   37190783
  REMARK    GeneRIF: Association Between Serum GDF15 Concentration and Total
            Mortality in Community-Dwelling Japanese Older Populations: The
            Involvement of Renal Dysfunction.
REFERENCE   3  (bases 1 to 793)
  AUTHORS   Duan A, Huang Z, Zhao Z, Zhao Q, Jin Q, Yan L, Zhang Y, Li X, Zhang
            S, Hu M, Gao L, An C, Luo Q and Liu Z.
  TITLE     The potential of cystatin C as a predictive biomarker in pulmonary
            hypertension
  JOURNAL   BMC Pulm Med 23 (1), 311 (2023)
   PUBMED   37633906
  REMARK    GeneRIF: The potential of cystatin C as a predictive biomarker in
            pulmonary hypertension. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 793)
  AUTHORS   PramodKumar TA, Sivaprasad S, Venkatesan U, Mohan V, Anjana RM,
            Unnikrishnan R, Cherian J, Giridhar A, Gopalakrishnan M and
            Rajalakshmi R.
  TITLE     Role of cystatin C in the detection of sight-threatening diabetic
            retinopathy in Asian Indians with type 2 diabetes
  JOURNAL   J Diabetes Complications 37 (8), 108545 (2023)
   PUBMED   37348180
  REMARK    GeneRIF: Role of cystatin C in the detection of sight-threatening
            diabetic retinopathy in Asian Indians with type 2 diabetes.
REFERENCE   5  (bases 1 to 793)
  AUTHORS   Dahl H, Meyer K, Sandnes K, Welland NL, Arnesen I, Marti HP, Dierkes
            J and Lysne V.
  TITLE     Cystatin C proteoforms in chronic kidney disease
  JOURNAL   PLoS One 18 (2), e0269436 (2023)
   PUBMED   36724153
  REMARK    GeneRIF: Cystatin C proteoforms in chronic kidney disease.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 793)
  AUTHORS   Abrahamson M, Jonsdottir S, Olafsson I, Jensson O and Grubb A.
  TITLE     Hereditary cystatin C amyloid angiopathy: identification of the
            disease-causing mutation and specific diagnosis by polymerase chain
            reaction based analysis
  JOURNAL   Hum Genet 89 (4), 377-380 (1992)
   PUBMED   1352269
REFERENCE   7  (bases 1 to 793)
  AUTHORS   Lindahl P, Abrahamson M and Bjork I.
  TITLE     Interaction of recombinant human cystatin C with the cysteine
            proteinases papain and actinidin
  JOURNAL   Biochem J 281 (Pt 1) (Pt 1), 49-55 (1992)
   PUBMED   1731767
REFERENCE   8  (bases 1 to 793)
  AUTHORS   Lenarcic B, Krasovec M, Ritonja A, Olafsson I and Turk V.
  TITLE     Inactivation of human cystatin C and kininogen by human cathepsin D
  JOURNAL   FEBS Lett 280 (2), 211-215 (1991)
   PUBMED   2013314
REFERENCE   9  (bases 1 to 793)
  AUTHORS   Abrahamson M, Mason RW, Hansson H, Buttle DJ, Grubb A and Ohlsson K.
  TITLE     Human cystatin C. role of the N-terminal segment in the inhibition
            of human cysteine proteinases and in its inactivation by leucocyte
            elastase
  JOURNAL   Biochem J 273 (Pt 3) (Pt 3), 621-626 (1991)
   PUBMED   1996959
REFERENCE   10  (bases 1 to 793)
  AUTHORS   Bjorck L, Grubb A and Kjellen L.
  TITLE     Cystatin C, a human proteinase inhibitor, blocks replication of
            herpes simplex virus
  JOURNAL   J Virol 64 (2), 941-943 (1990)
   PUBMED   2153254
  REMARK    GeneRIF: CST3 exhibits an antimicrobial activity against herpes
            simplex virus.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.8751.1,
            SRR3476690.1069974.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000376925.8/ ENSP00000366124.3
            Protein has antimicrobial activity :: PMID: 2153254
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121894.26.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000099.3.
            Summary: The cystatin superfamily encompasses proteins that contain
            multiple cystatin-like sequences. Some of the members are active
            cysteine protease inhibitors, while others have lost or perhaps
            never acquired this inhibitory activity. There are three inhibitory
            families in the superfamily, including the type 1 cystatins
            (stefins), type 2 cystatins and the kininogens. The type 2 cystatin
            proteins are a class of cysteine proteinase inhibitors found in a
            variety of human fluids and secretions, where they appear to
            provide protective functions. The cystatin locus on chromosome 20
            contains the majority of the type 2 cystatin genes and pseudogenes.
            This gene is located in the cystatin locus and encodes the most
            abundant extracellular inhibitor of cysteine proteases, which is
            found in high concentrations in biological fluids and is expressed
            in virtually all organs of the body. A mutation in this gene has
            been associated with amyloid angiopathy. Expression of this protein
            in vascular wall smooth muscle cells is severely reduced in both
            atherosclerotic and aneurysmal aortic lesions, establishing its
            role in vascular disease. In addition, this protein has been shown
            to have an antimicrobial function, inhibiting the replication of
            herpes simplex virus. Alternative splicing results in multiple
            transcript variants encoding a single protein. [provided by RefSeq,
            Nov 2014].
            Transcript Variant: This variant (1) differs in the 3' UTR compared
            to variant 2. Variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..793
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.21"
     gene            1..793
                     /gene="CST3"
                     /gene_synonym="ARMD11; HEL-S-2"
                     /note="cystatin C"
                     /db_xref="GeneID:1471"
                     /db_xref="HGNC:HGNC:2475"
                     /db_xref="MIM:604312"
     misc_feature    85..87
                     /gene="CST3"
                     /gene_synonym="ARMD11; HEL-S-2"
                     /note="upstream in-frame stop codon"
     CDS             94..534
                     /gene="CST3"
                     /gene_synonym="ARMD11; HEL-S-2"
                     /note="cystatin 3; gamma-trace; post-gamma-globulin;
                     neuroendocrine basic polypeptide; bA218C14.4 (cystatin C);
                     epididymis secretory protein Li 2"
                     /codon_start=1
                     /product="cystatin-C precursor"
                     /protein_id="NP_000090.1"
                     /db_xref="CCDS:CCDS13158.1"
                     /db_xref="GeneID:1471"
                     /db_xref="HGNC:HGNC:2475"
                     /db_xref="MIM:604312"
                     /translation="MAGPLRAPLLLLAILAVALAVSPAAGSSPGKPPRLVGGPMDASVE
                     EEGVRRALDFAVGEYNKASNDMYHSRALQVVRARKQIVAGVNYFLDVELGRTTCTKTQP
                     NLDNCPFHDQPHLKRKAFCSFQIYAVPWQGTMTLSKSTCQDA"
     sig_peptide     94..171
                     /gene="CST3"
                     /gene_synonym="ARMD11; HEL-S-2"
     mat_peptide     172..531
                     /gene="CST3"
                     /gene_synonym="ARMD11; HEL-S-2"
                     /product="cystatin-C"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     2153254]"
     regulatory      774..779
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CST3"
                     /gene_synonym="ARMD11; HEL-S-2"
                     /note="hexamer: AATAAA"
     polyA_site      793
                     /gene="CST3"
                     /gene_synonym="ARMD11; HEL-S-2"
                     /note="major polyA site"
ORIGIN
        1 acggcctcgc ctcggtatcg cagcgggtcc tctctatcta gctccagcct ctcgcctgcg
       61 ccccactccc cgcgtcccgc gtcctagccg accatggccg ggcccctgcg cgccccgctg
      121 ctcctgctgg ccatcctggc cgtggccctg gccgtgagcc ccgcggccgg ctccagtccc
      181 ggcaagccgc cgcgcctagt gggaggcccc atggacgcca gcgtggagga ggagggtgtg
      241 cggcgtgcac tggactttgc cgtcggcgag tacaacaaag ccagcaacga catgtaccac
      301 agccgcgcgc tgcaggtggt gcgcgcccgc aagcagatcg tagctggggt gaactacttc
      361 ttggacgtgg agctgggccg aaccacgtgt accaagaccc agcccaactt ggacaactgc
      421 cccttccatg accagccaca tctgaaaagg aaagcattct gctctttcca gatctacgct
      481 gtgccttggc agggcacaat gaccttgtcg aaatccacct gtcaggacgc ctaggggtct
      541 gtaccgggct ggcctgtgcc tatcacctct tatgcacacc tcccaccccc tgtattccca
      601 cccctggact ggtggcccct gccttgggga aggtctcccc atgtgcctgc accaggagac
      661 agacagagaa ggcagcaggc ggcctttgtt gctcagcaag gggctctgcc ctccctcctt
      721 ccttcttgct tctcatagcc ccggtgtgcg gtgcatacac ccccacctcc tgcaataaaa
      781 tagtagcatc ggc
//
LOCUS       NM_000100                588 bp    mRNA    linear   PRI 19-MAR-2023
DEFINITION  Homo sapiens cystatin B (CSTB), mRNA.
ACCESSION   NM_000100
VERSION     NM_000100.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 588)
  AUTHORS   Opsteen S, Moylan D, Taiwo BO, Robertson KR, Overton ET, Cutter GR,
            Sabbaj S, Heath SL and Shacka JJ.
  TITLE     Brief Report: Intracellular Cystatin B Levels Are Altered in
            HIV-Infected Participants With Respect to Neurocognitive Status and
            Antiretroviral Therapy
  JOURNAL   J Acquir Immune Defic Syndr 91 (5), 485-489 (2022)
   PUBMED   36083516
  REMARK    GeneRIF: Brief Report: Intracellular Cystatin B Levels Are Altered
            in HIV-Infected Participants With Respect to Neurocognitive Status
            and Antiretroviral Therapy.
REFERENCE   2  (bases 1 to 588)
  AUTHORS   Borges-Velez G, Arroyo JA, Cantres-Rosario YM, Rodriguez de Jesus A,
            Roche-Lima A, Rosado-Philippi J, Rosario-Rodriguez LJ, Correa-Rivas
            MS, Campos-Rivera M and Melendez LM.
  TITLE     Decreased CSTB, RAGE, and Axl Receptor Are Associated with Zika
            Infection in the Human Placenta
  JOURNAL   Cells 11 (22), 3627 (2022)
   PUBMED   36429055
  REMARK    GeneRIF: Decreased CSTB, RAGE, and Axl Receptor Are Associated with
            Zika Infection in the Human Placenta. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 588)
  AUTHORS   Huang C, Ai X, Hu L and Ren D.
  TITLE     The Role of NMP22 and CSTB Levels in Predicting Postoperative
            Recurrence of Bladder Cancer
  JOURNAL   J Immunol Res 2022, 6735310 (2022)
   PUBMED   35647202
  REMARK    GeneRIF: The Role of NMP22 and CSTB Levels in Predicting
            Postoperative Recurrence of Bladder Cancer. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 588)
  AUTHORS   Koopaie M, Ghafourian M, Manifar S, Younespour S, Davoudi M,
            Kolahdooz S and Shirkhoda M.
  TITLE     Evaluation of CSTB and DMBT1 expression in saliva of gastric cancer
            patients and controls
  JOURNAL   BMC Cancer 22 (1), 473 (2022)
   PUBMED   35488257
  REMARK    GeneRIF: Evaluation of CSTB and DMBT1 expression in saliva of
            gastric cancer patients and controls. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 588)
  AUTHORS   Bosak M, Sulek A, Lukasik M, Zak A, Slowik A and Lasek-Bal A.
  TITLE     Genetic testing and the phenotype of Polish patients with
            Unverricht-Lundborg disease (EPM1) - A cohort study
  JOURNAL   Epilepsy Behav 112, 107439 (2020)
   PUBMED   32920378
  REMARK    GeneRIF: Genetic testing and the phenotype of Polish patients with
            Unverricht-Lundborg disease (EPM1) - A cohort study.
REFERENCE   6  (bases 1 to 588)
  AUTHORS   Lehesjoki,A.E. and Kalviainen,R.
  TITLE     Progressive Myoclonic Epilepsy Type 1
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301321
REFERENCE   7  (bases 1 to 588)
  AUTHORS   Turk V and Bode W.
  TITLE     The cystatins: protein inhibitors of cysteine proteinases
  JOURNAL   FEBS Lett 285 (2), 213-219 (1991)
   PUBMED   1855589
  REMARK    Review article
REFERENCE   8  (bases 1 to 588)
  AUTHORS   Stubbs MT, Laber B, Bode W, Huber R, Jerala R, Lenarcic B and Turk
            V.
  TITLE     The refined 2.4 A X-ray crystal structure of recombinant human
            stefin B in complex with the cysteine proteinase papain: a novel
            type of proteinase inhibitor interaction
  JOURNAL   EMBO J 9 (6), 1939-1947 (1990)
   PUBMED   2347312
REFERENCE   9  (bases 1 to 588)
  AUTHORS   Jerala R, Trstenjak M, Lenarcic B and Turk V.
  TITLE     Cloning a synthetic gene for human stefin B and its expression in E.
            coli
  JOURNAL   FEBS Lett 239 (1), 41-44 (1988)
   PUBMED   3053245
REFERENCE   10  (bases 1 to 588)
  AUTHORS   Jarvinen M, Rinne A and Hopsu-Havu VK.
  TITLE     Human cystatins in normal and diseased tissues--a review
  JOURNAL   Acta Histochem 82 (1), 5-18 (1987)
   PUBMED   3122506
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BE794956.1, BQ691925.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000291568.7/ ENSP00000291568.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC003370.1.
            On Nov 21, 2019 this sequence version replaced NM_000100.3.
            Summary: The cystatin superfamily encompasses proteins that contain
            multiple cystatin-like sequences. Some of the members are active
            cysteine protease inhibitors, while others have lost or perhaps
            never acquired this inhibitory activity. There are three inhibitory
            families in the superfamily, including the type 1 cystatins
            (stefins), type 2 cystatins and kininogens. This gene encodes a
            stefin that functions as an intracellular thiol protease inhibitor.
            The protein is able to form a dimer stabilized by noncovalent
            forces, inhibiting papain and cathepsins l, h and b. The protein is
            thought to play a role in protecting against the proteases leaking
            from lysosomes. Evidence indicates that mutations in this gene are
            responsible for the primary defects in patients with progressive
            myoclonic epilepsy (EPM1). One type of mutation responsible for
            EPM1 is the expansion in the promoter region of this gene of a
            CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by
            RefSeq, Jul 2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..588
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..588
                     /gene="CSTB"
                     /gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
                     /note="cystatin B"
                     /db_xref="GeneID:1476"
                     /db_xref="HGNC:HGNC:2482"
                     /db_xref="MIM:601145"
     CDS             40..336
                     /gene="CSTB"
                     /gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
                     /note="liver thiol proteinase inhibitor; cystatin B (stefin
                     B); epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="cystatin-B"
                     /protein_id="NP_000091.1"
                     /db_xref="CCDS:CCDS13701.1"
                     /db_xref="GeneID:1476"
                     /db_xref="HGNC:HGNC:2482"
                     /db_xref="MIM:601145"
                     /translation="MMCGAPSATQPATAETQHIADQVRSQLEEKENKKFPVFKAVSFKS
                     QVVAGTNYFIKVHVGDEDFVHLRVFQSLPHENKPLTLSNYQTNKAKHDELTYF"
     misc_feature    40..42
                     /gene="CSTB"
                     /gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (P04080.2); acetylation site"
     misc_feature    49..51
                     /gene="CSTB"
                     /gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
                     /note="Reactive site; propagated from UniProtKB/Swiss-Prot
                     (P04080.2); other site"
     misc_feature    175..189
                     /gene="CSTB"
                     /gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
                     /note="propagated from UniProtKB/Swiss-Prot (P04080.2);
                     Region: Secondary area of contact"
     regulatory      564..569
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSTB"
                     /gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
                     /note="hexamer: AATAGA"
     polyA_site      588
                     /gene="CSTB"
                     /gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
                     /note="major polyA site"
ORIGIN
        1 gccgagtccc ctcgccagat tccctccgtc gccgccaaga tgatgtgcgg ggcgccctcc
       61 gccacgcagc cggccaccgc cgagacccag cacatcgccg accaggtgag gtcccagctt
      121 gaagagaaag aaaacaagaa gttccctgtg tttaaggccg tgtcattcaa gagccaggtg
      181 gtcgcgggga caaactactt catcaaggtg cacgtcggcg acgaggactt cgtacacctg
      241 cgagtgttcc aatctctccc tcatgaaaac aagcccttga ccttatctaa ctaccagacc
      301 aacaaagcca agcatgatga gctgacctat ttctgatcct gactttggac aaggcccttc
      361 agccagaaga ctgacaaagt catcctccgt ctaccagagc gtgcacttgt gatcctaaaa
      421 taagcttcat ctccgggctg tgccccttgg ggtggaaggg gcaggattct gcagctgctt
      481 ttgcatttct cttcctaaat ttcattgtgt tgatttcttt ccttcccaat aggtgatctt
      541 aattactttc agaatatttt caaaatagat atatttttaa aatcctta
//
LOCUS       NM_000101                692 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens cytochrome b-245 alpha chain (CYBA), mRNA.
ACCESSION   NM_000101
VERSION     NM_000101.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 692)
  AUTHORS   Tornell A, Lagerstrom N, Mossberg N, Kiffin R, Farman H, Lycke J,
            Andersen O, Axelsson M, Hellstrand K and Martner A.
  TITLE     CYBA allelic variants are associated with severity and recovery in
            Guillain-Barre syndrome
  JOURNAL   J Peripher Nerv Syst 28 (3), 407-414 (2023)
   PUBMED   37288802
  REMARK    GeneRIF: CYBA allelic variants are associated with severity and
            recovery in Guillain-Barre syndrome.
REFERENCE   2  (bases 1 to 692)
  AUTHORS   Kawai C, Kajikawa M, Yamauchi A, Okamoto S, Kuribayashi F and Miyano
            K.
  TITLE     Characterization of missense mutations in the NADPH oxidase partner
            p22phox in the A22 degrees subtype of chronic granulomatous disease
  JOURNAL   Microbiol Immunol 67 (4), 194-200 (2023)
   PUBMED   36606663
  REMARK    GeneRIF: Characterization of missense mutations in the NADPH oxidase
            partner p22[phox] in the A22 degrees subtype of chronic
            granulomatous disease.
REFERENCE   3  (bases 1 to 692)
  AUTHORS   Tlili A, Pintard C, Hurtado-Nedelec M, Liu D, Marzaioli V,
            Thieblemont N, Dang PM and El-Benna J.
  TITLE     ROCK2 interacts with p22phox to phosphorylate p47phox and to control
            NADPH oxidase activation in human monocytes
  JOURNAL   Proc Natl Acad Sci U S A 120 (3), e2209184120 (2023)
   PUBMED   36626553
  REMARK    GeneRIF: ROCK2 interacts with p22phox to phosphorylate p47phox and
            to control NADPH oxidase activation in human monocytes.
REFERENCE   4  (bases 1 to 692)
  AUTHORS   Balcerzyk-Matic A, Nowak T, Mizia-Stec K, Iwanicka J, Iwanicki T,
            Banka P, Jarosz A, Filipecki A, Zak I, Krauze J and Niemiec P.
  TITLE     Polymorphic Variants of AGT, ABCA1, and CYBA Genes Influence the
            Survival of Patients with Coronary Artery Disease: A Prospective
            Cohort Study
  JOURNAL   Genes (Basel) 13 (11), 2148 (2022)
   PUBMED   36421822
  REMARK    GeneRIF: Polymorphic Variants of AGT, ABCA1, and CYBA Genes
            Influence the Survival of Patients with Coronary Artery Disease: A
            Prospective Cohort Study. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 692)
  AUTHORS   Li W, Shou X, Xiang W, He L, Li L, Fu H and Mao J.
  TITLE     Urinary Sediment mRNA Level of CREBBP and CYBA in Children With
            Steroid-Resistant Nephrotic Syndrome
  JOURNAL   Front Immunol 12, 801313 (2022)
   PUBMED   35173708
  REMARK    GeneRIF: Urinary Sediment mRNA Level of CREBBP and CYBA in Children
            With Steroid-Resistant Nephrotic Syndrome. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 692)
  AUTHORS   Leiding,J.W. and Holland,S.M.
  TITLE     Chronic Granulomatous Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   22876374
REFERENCE   7  (bases 1 to 692)
  AUTHORS   de Boer M, de Klein A, Hossle JP, Seger R, Corbeel L, Weening RS and
            Roos D.
  TITLE     Cytochrome b558-negative, autosomal recessive chronic granulomatous
            disease: two new mutations in the cytochrome b558 light chain of the
            NADPH oxidase (p22-phox)
  JOURNAL   Am J Hum Genet 51 (5), 1127-1135 (1992)
   PUBMED   1415254
REFERENCE   8  (bases 1 to 692)
  AUTHORS   Dinauer MC, Pierce EA, Erickson RW, Muhlebach TJ, Messner H, Orkin
            SH, Seger RA and Curnutte JT.
  TITLE     Point mutation in the cytoplasmic domain of the neutrophil p22-phox
            cytochrome b subunit is associated with a nonfunctional NADPH
            oxidase and chronic granulomatous disease
  JOURNAL   Proc Natl Acad Sci U S A 88 (24), 11231-11235 (1991)
   PUBMED   1763037
REFERENCE   9  (bases 1 to 692)
  AUTHORS   Bu-Ghanim HN, Casimir CM, Povey S and Segal AW.
  TITLE     The alpha subunit of cytochrome b-245 mapped to chromosome 16
  JOURNAL   Genomics 8 (3), 568-570 (1990)
   PUBMED   2286377
REFERENCE   10  (bases 1 to 692)
  AUTHORS   Dinauer MC, Pierce EA, Bruns GA, Curnutte JT and Orkin SH.
  TITLE     Human neutrophil cytochrome b light chain (p22-phox). Gene
            structure, chromosomal location, and mutations in
            cytochrome-negative autosomal recessive chronic granulomatous
            disease
  JOURNAL   J Clin Invest 86 (5), 1729-1737 (1990)
   PUBMED   2243141
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CA311054.1, CA311071.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000261623.8/ ENSP00000261623.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC116552.2.
            On Nov 24, 2018 this sequence version replaced NM_000101.3.
            Summary: Cytochrome b is comprised of a light chain (alpha) and a
            heavy chain (beta). This gene encodes the light, alpha subunit
            which has been proposed as a primary component of the microbicidal
            oxidase system of phagocytes. Mutations in this gene are associated
            with autosomal recessive chronic granulomatous disease (CGD), that
            is characterized by the failure of activated phagocytes to generate
            superoxide, which is important for the microbicidal activity of
            these cells. [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..692
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.2"
     gene            1..692
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /note="cytochrome b-245 alpha chain"
                     /db_xref="GeneID:1535"
                     /db_xref="HGNC:HGNC:2577"
                     /db_xref="MIM:608508"
     misc_feature    11..13
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /note="upstream in-frame stop codon"
     CDS             41..628
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /note="cytochrome b, alpha polypeptide; cytochrome b light
                     chain; flavocytochrome b-558 alpha polypeptide; cytochrome
                     b(558) alpha-subunit; p22phox; cytochrome b-245, alpha
                     polypeptide; p22 phagocyte B-cytochrome; cytochrome b(558)
                     alpha chain; cytochrome b558 subunit alpha; neutrophil
                     cytochrome b 22 kDa polypeptide; superoxide-generating
                     NADPH oxidase light chain subunit"
                     /codon_start=1
                     /product="cytochrome b-245 light chain"
                     /protein_id="NP_000092.2"
                     /db_xref="CCDS:CCDS32504.1"
                     /db_xref="GeneID:1535"
                     /db_xref="HGNC:HGNC:2577"
                     /db_xref="MIM:608508"
                     /translation="MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVA
                     GVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLLSVPAGFL
                     LATILGTACLAIASGIYLLAAVRGEQWTPIEPKPRERPQIGGTIKQPPSNPPPRPPAEA
                     RKKPSEEEAAVAAGGPPGGPQVNPIPVTDEVV"
     misc_feature    440..625
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /note="propagated from UniProtKB/Swiss-Prot (P13498.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    479..481
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:19948736,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P13498.3); phosphorylation site"
     misc_feature    542..544
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61462; propagated from
                     UniProtKB/Swiss-Prot (P13498.3); phosphorylation site"
     regulatory      671..676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /note="hexamer: AATAAA"
     polyA_site      692
                     /gene="CYBA"
                     /gene_synonym="CGD4; p22-PHOX"
                     /note="major polyA site"
ORIGIN
        1 agtgcgcgcc tagcagtgtc ccagccgggt tcgtgtcgcc atggggcaga tcgagtgggc
       61 catgtgggcc aacgaacagg cgctggcgtc cggcctgatc ctcatcaccg ggggcatcgt
      121 ggccacagct gggcgcttca cccagtggta ctttggtgcc tactccattg tggcgggcgt
      181 gtttgtgtgc ctgctggagt acccccgggg gaagaggaag aagggctcca ccatggagcg
      241 ctggggacag aagtacatga ccgccgtggt gaagctgttc gggcccttta ccaggaatta
      301 ctatgttcgg gccgtcctgc atctcctgct ctcggtgccc gccggcttcc tgctggccac
      361 catccttggg accgcctgcc tggccattgc gagcggcatc tacctactgg cggctgtgcg
      421 tggcgagcag tggacgccca tcgagcccaa gccccgggag cggccgcaga tcggaggcac
      481 catcaagcag ccgcccagca accccccgcc gcggcccccg gccgaggccc gcaagaagcc
      541 cagcgaggag gaggctgcgg tggcggcggg gggacccccg ggaggtcccc aggtcaaccc
      601 catcccggtg accgacgagg tcgtgtgacc tcgccccgga cctgccctcc cgccaggtgc
      661 acccacctgc aataaatgca gcgaagccgg ga
//
LOCUS       NM_000102               1750 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens cytochrome P450 family 17 subfamily A member 1
            (CYP17A1), mRNA.
ACCESSION   NM_000102
VERSION     NM_000102.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1750)
  AUTHORS   Rezgoun ML, El Khour D, Bendaoud H and Chellat D.
  TITLE     CYP17A1 (rs74357) polymorphism and polycystic ovary syndrome risk: a
            systemic review and meta-analysis
  JOURNAL   Acta Biomed 94 (4), e2023167 (2023)
   PUBMED   37539608
  REMARK    GeneRIF: CYP17A1 (rs74357) polymorphism and polycystic ovary
            syndrome risk: a systemic review and meta-analysis. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1750)
  AUTHORS   Wu TT, Zheng YY, Ma X, Xiu WJ, Yang HT, Hou XG, Yang Y, Chen Y, Ma
            YT and Xie X.
  TITLE     Mutated CYP17A1 promotes atherosclerosis and early-onset coronary
            artery disease
  JOURNAL   Cell Commun Signal 21 (1), 155 (2023)
   PUBMED   37370070
  REMARK    GeneRIF: Mutated CYP17A1 promotes atherosclerosis and early-onset
            coronary artery disease. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1750)
  AUTHORS   Lee SG, Kim V, Lee GH, Kim C, Jeong E, Guengerich FP and Kim D.
  TITLE     Hydroxylation and lyase reactions of steroids catalyzed by mouse
            cytochrome P450 17A1 (Cyp17a1)
  JOURNAL   J Inorg Biochem 240, 112085 (2023)
   PUBMED   36640554
REFERENCE   4  (bases 1 to 1750)
  AUTHORS   Zhang D, Yao F, Luo M, Wang Y, Tian T, Deng S and Tian Q.
  TITLE     Clinical characteristics and molecular etiology of partial
            17alpha-hydroxylase deficiency diagnosed in 46,XX patients
  JOURNAL   Front Endocrinol (Lausanne) 13, 978026 (2022)
   PUBMED   36589849
  REMARK    GeneRIF: Clinical characteristics and molecular etiology of partial
            17alpha-hydroxylase deficiency diagnosed in 46,XX patients.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1750)
  AUTHORS   Alfimova M, Kondratyev N, Korovaitseva G, Lezheiko T, Plakunova V,
            Gabaeva M and Golimbet V.
  TITLE     A Role of DNA Methylation within the CYP17A1 Gene in the Association
            of Genetic and Environmental Risk Factors with Stress-Related
            Manifestations of Schizophrenia
  JOURNAL   Int J Mol Sci 23 (20), 12629 (2022)
   PUBMED   36293479
  REMARK    GeneRIF: A Role of DNA Methylation within the CYP17A1 Gene in the
            Association of Genetic and Environmental Risk Factors with
            Stress-Related Manifestations of Schizophrenia. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 1750)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 1750)
  AUTHORS   Fan YS, Sasi R, Lee C, Winter JS, Waterman MR and Lin CC.
  TITLE     Localization of the human CYP17 gene (cytochrome P450(17 alpha)) to
            10q24.3 by fluorescence in situ hybridization and simultaneous
            chromosome banding
  JOURNAL   Genomics 14 (4), 1110-1111 (1992)
   PUBMED   1478654
REFERENCE   8  (bases 1 to 1750)
  AUTHORS   Yanase T, Waterman MR, Zachmann M, Winter JS, Simpson ER and
            Kagimoto M.
  TITLE     Molecular basis of apparent isolated 17,20-lyase deficiency:
            compound heterozygous mutations in the C-terminal region
            (Arg(496)----Cys, Gln(461)----Stop) actually cause combined 17
            alpha-hydroxylase/17,20-lyase deficiency
  JOURNAL   Biochim Biophys Acta 1139 (4), 275-279 (1992)
   PUBMED   1515452
REFERENCE   9  (bases 1 to 1750)
  AUTHORS   Imai T, Yanase T, Waterman MR, Simpson ER and Pratt JJ.
  TITLE     Canadian Mennonites and individuals residing in the Friesland region
            of The Netherlands share the same molecular basis of 17
            alpha-hydroxylase deficiency
  JOURNAL   Hum Genet 89 (1), 95-96 (1992)
   PUBMED   1577471
REFERENCE   10  (bases 1 to 1750)
  AUTHORS   Krohn K, Uibo R, Aavik E, Peterson P and Savilahti K.
  TITLE     Identification by molecular cloning of an autoantigen associated
            with Addison's disease as steroid 17 alpha-hydroxylase
  JOURNAL   Lancet 339 (8796), 770-773 (1992)
   PUBMED   1347802
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK289898.1, SRR5189667.150130.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2146411,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369887.4/ ENSP00000358903.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA013587.1, BC063388.1 and
            AI492406.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000102.3.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum. It has both
            17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme
            in the steroidogenic pathway that produces progestins,
            mineralocorticoids, glucocorticoids, androgens, and estrogens.
            Mutations in this gene are associated with isolated steroid-17
            alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase
            deficiency, pseudohermaphroditism, and adrenal hyperplasia.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1750
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.32"
     gene            1..1750
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /note="cytochrome P450 family 17 subfamily A member 1"
                     /db_xref="GeneID:1586"
                     /db_xref="HGNC:HGNC:2593"
                     /db_xref="MIM:609300"
     CDS             53..1579
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /EC_number="1.14.14.19"
                     /EC_number="1.14.14.32"
                     /note="cytochrome p450 XVIIA1; steroid
                     17-alpha-monooxygenase; cytochrome P450, subfamily XVII
                     (steroid 17-alpha-hydroxylase), adrenal hyperplasia;
                     steroid 17-alpha-hydroxylase/17,20 lyase; CYPXVII;
                     cytochrome P450c17; cytochrome P450-C17; cytochrome P450
                     17A1; 17-alpha-hydroxyprogesterone aldolase; cytochrome
                     P450, family 17, subfamily A, polypeptide 1"
                     /codon_start=1
                     /product="steroid 17-alpha-hydroxylase/17,20 lyase
                     precursor"
                     /protein_id="NP_000093.1"
                     /db_xref="CCDS:CCDS7541.1"
                     /db_xref="GeneID:1586"
                     /db_xref="HGNC:HGNC:2593"
                     /db_xref="MIM:609300"
                     /translation="MWELVALLLLTLAYLFWPKRRCPGAKYPKSLLSLPLVGSLPFLPR
                     HGHMHNNFFKLQKKYGPIYSVRMGTKTTVIVGHHQLAKEVLIKKGKDFSGRPQMATLDI
                     ASNNRKGIAFADSGAHWQLHRRLAMATFALFKDGDQKLEKIICQEISTLCDMLATHNGQ
                     SIDISFPVFVAVTNVISLICFNTSYKNGDPELNVIQNYNEGIIDNLSKDSLVDLVPWLK
                     IFPNKTLEKLKSHVKIRNDLLNKILENYKEKFRSDSITNMLDTLMQAKMNSDNGNAGPD
                     QDSELLSDNHILTTIGDIFGAGVETTTSVVKWTLAFLLHNPQVKKKLYEEIDQNVGFSR
                     TPTISDRNRLLLLEATIREVLRLRPVAPMLIPHKANVDSSIGEFAVDKGTEVIINLWAL
                     HHNEKEWHQPDQFMPERFLNPAGTQLISPSVSYLPFGAGPRSCIGEILARQELFLIMAW
                     LLQRFDLEVPDDGQLPSLEGIPKVVFLIDSFKVKIKVRQAWREAQAEGST"
     sig_peptide     53..106
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    1376..1378
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /note="heme binding site"
     regulatory      1725..1730
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /note="hexamer: CATAAA"
     polyA_site      1750
                     /gene="CYP17A1"
                     /gene_synonym="CPT7; CYP17; P450C17; S17AH"
                     /note="major polyA site"
ORIGIN
        1 acagctcttc tactccactg ctgtctatct tgcctgccgg cacccagcca ccatgtggga
       61 gctcgtggct ctcttgctgc ttaccctagc ttatttgttt tggcccaaga gaaggtgccc
      121 tggtgccaag taccccaaga gcctcctgtc cctgcccctg gtgggcagcc tgccattcct
      181 ccccagacac ggccatatgc ataacaactt cttcaagctg cagaaaaaat atggccccat
      241 ctattcggtt cgtatgggca ccaagactac agtgattgtc ggccaccacc agctggccaa
      301 ggaggtgctt attaagaagg gcaaggactt ctctgggcgg cctcaaatgg caactctaga
      361 catcgcgtcc aacaaccgta agggtatcgc cttcgctgac tctggcgcac actggcagct
      421 gcatcgaagg ctggcgatgg ccacctttgc cctgttcaag gatggcgatc agaagctgga
      481 gaagatcatt tgtcaggaaa tcagtacatt gtgtgatatg ctggccaccc acaacggaca
      541 gtccatagac atctcctttc ctgtcttcgt ggcggtaacc aatgtcatct ccttgatctg
      601 cttcaatacc tcctacaaga atggggaccc tgagttgaat gtcatacaga attacaatga
      661 aggcatcata gacaacctga gcaaagacag cctggtggac ctagtcccct ggttgaagat
      721 tttccccaac aaaaccctgg aaaaattaaa gagccatgtt aaaatacgaa atgatctgct
      781 gaataaaata cttgaaaatt acaaggagaa attccggagt gactctatca ccaacatgct
      841 ggacacactg atgcaagcca agatgaactc agataatggc aatgctggcc cagatcaaga
      901 ctcagagctg ctttcagata accacattct caccaccata ggggacatct ttggggctgg
      961 cgtggagacc accacctctg tggttaaatg gaccctggcc ttcctgctgc acaatcctca
     1021 ggtgaagaag aagctctacg aggagattga ccagaatgtg ggtttcagcc gcacaccaac
     1081 tatcagtgac cgtaaccgtc tcctcctgct ggaggccacc atccgagagg tgcttcgcct
     1141 caggcccgtg gcccctatgc tcatccccca caaggccaac gttgactcca gcatcggtga
     1201 gtttgctgtg gacaagggca cagaagttat catcaatctg tgggcgctgc atcacaatga
     1261 gaaggagtgg caccagccgg atcagttcat gcctgagcgt ttcttgaatc cagcggggac
     1321 ccagctcatc tcaccgtcag taagctattt gcccttcgga gcaggacctc gctcctgtat
     1381 aggtgagatc ctggcccgcc aggagctctt cctcatcatg gcctggctgc tgcagaggtt
     1441 cgacctggag gtgccagatg atgggcagct gccctccctg gaaggcatcc ccaaggtggt
     1501 ctttctgatc gactctttca aagtgaagat caaggtgcgc caggcctgga gggaagccca
     1561 ggctgagggt agcacctaaa ggctgtaact cacagcccct gtccacccta tgtggcccca
     1621 caacacagat ttagagatac aaccccccac ccttctccgc cattcttccc tactcccaac
     1681 ccactctgcc ttctttttca gcttgtggca atgccagtga tgtgcataaa cagttttttt
     1741 ttttccataa
//
LOCUS       NM_000103               4403 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens cytochrome P450 family 19 subfamily A member 1
            (CYP19A1), transcript variant 1, mRNA.
ACCESSION   NM_000103
VERSION     NM_000103.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4403)
  AUTHORS   Stanelle-Bertram S, Beck S, Mounogou NK, Schaumburg B, Stoll F, Al
            Jawazneh A, Schmal Z, Bai T, Zickler M, Beythien G, Becker K, de la
            Roi M, Heinrich F, Schulz C, Sauter M, Krasemann S, Lange P,
            Heinemann A, van Riel D, Leijten L, Bauer L, van den Bosch TPP,
            Lopuhaa B, Busche T, Wibberg D, Schaudien D, Goldmann T, Luttjohann
            A, Ruschinski J, Jania H, Muller Z, Pinho Dos Reis V, Krupp-Buzimkic
            V, Wolff M, Fallerini C, Baldassarri M, Furini S, Norwood K, Kaufer
            C, Schutzenmeister N, von Kockritz-Blickwede M, Schroeder M, Jarczak
            D, Nierhaus A, Welte T, Kluge S, McHardy AC, Sommer F, Kalinowski J,
            Krauss-Etschmann S, Richter F, von der Thusen J, Baumgartner W,
            Klingel K, Ondruschka B, Renieri A and Gabriel G.
  CONSRTM   GEN-COVID Multicenter Study Group
  TITLE     CYP19A1 mediates severe SARS-CoV-2 disease outcome in males
  JOURNAL   Cell Rep Med 4 (9), 101152 (2023)
   PUBMED   37572667
  REMARK    GeneRIF: CYP19A1 mediates severe SARS-CoV-2 disease outcome in
            males.
REFERENCE   2  (bases 1 to 4403)
  AUTHORS   Lu Y, Qin L, Wei Y, Mo X, Tang X, Liu Q, Liu S, Zhang J, Xu M, Wei
            C, Huang S, Lin Y, Luo T, Mai T, Gou R, Zhang Z, Cai J and Qin J.
  TITLE     Association between barium exposed, CYP19A1 and central obesity: A
            cross-sectional study in rural China
  JOURNAL   J Trace Elem Med Biol 78, 127170 (2023)
   PUBMED   37075568
  REMARK    GeneRIF: Association between barium exposed, CYP19A1 and central
            obesity: A cross-sectional study in rural China.
REFERENCE   3  (bases 1 to 4403)
  AUTHORS   Zhang C, Cheng Y, Chen W, Li Q, Dai R, Wang Y and Yang T.
  TITLE     Association of CYP19A1 rs28757157 polymorphism with lung cancer risk
            in the Chinese Han population
  JOURNAL   World J Surg Oncol 20 (1), 400 (2022)
   PUBMED   36527059
  REMARK    GeneRIF: Association of CYP19A1 rs28757157 polymorphism with lung
            cancer risk in the Chinese Han population. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 4403)
  AUTHORS   Peng Q, Yan Y, Yan H, Xie G, Shi L, Wen Y and Chang Q.
  TITLE     Association between CYP19A1 rs6493497 and rs936306 polymorphisms and
            depression susceptibility in the Chinese population
  JOURNAL   Biomark Med 16 (16), 1171-1179 (2022)
   PUBMED   36628958
  REMARK    GeneRIF: Association between CYP19A1 rs6493497 and rs936306
            polymorphisms and depression susceptibility in the Chinese
            population.
REFERENCE   5  (bases 1 to 4403)
  AUTHORS   Zhao H, Zhou L, Shangguan AJ and Bulun SE.
  TITLE     Aromatase expression and regulation in breast and endometrial cancer
  JOURNAL   J Mol Endocrinol 57 (1), R19-R33 (2016)
   PUBMED   27067638
  REMARK    Review article
REFERENCE   6  (bases 1 to 4403)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 4403)
  AUTHORS   Harada N.
  TITLE     A unique aromatase (P-450AROM) mRNA formed by alternative use of
            tissue-specific exons 1 in human skin fibroblasts
  JOURNAL   Biochem Biophys Res Commun 189 (2), 1001-1007 (1992)
   PUBMED   1472013
REFERENCE   8  (bases 1 to 4403)
  AUTHORS   Harada N, Ogawa H, Shozu M, Yamada K, Suhara K, Nishida E and Takagi
            Y.
  TITLE     Biochemical and molecular genetic analyses on placental aromatase
            (P-450AROM) deficiency
  JOURNAL   J Biol Chem 267 (7), 4781-4785 (1992)
   PUBMED   1371509
REFERENCE   9  (bases 1 to 4403)
  AUTHORS   Kilgore MW, Means GD, Mendelson CR and Simpson ER.
  TITLE     Alternative promotion of aromatase P-450 expression in the human
            placenta
  JOURNAL   Mol Cell Endocrinol 83 (1), R9-R16 (1992)
   PUBMED   1372568
REFERENCE   10  (bases 1 to 4403)
  AUTHORS   Means GD, Kilgore MW, Mahendroo MS, Mendelson CR and Simpson ER.
  TITLE     Tissue-specific promoters regulate aromatase cytochrome P450 gene
            expression in human ovary and fetal tissues
  JOURNAL   Mol Endocrinol 5 (12), 2005-2013 (1991)
   PUBMED   1724289
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14372080.4391063.1,
            SRR14372079.2640093.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968540
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396402.6/ ENSP00000379683.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC022896.1, DA853862.1,
            Y07508.1, BG621764.1, BC035959.1, AC012169.8 and BQ024157.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000103.3.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum and catalyzes
            the last steps of estrogen biosynthesis. Mutations in this gene can
            result in either increased or decreased aromatase activity; the
            associated phenotypes suggest that estrogen functions both as a sex
            steroid hormone and in growth or differentiation. Alternative
            promoter use and alternative splicing results in multiple
            transcript variants that have different tissue specificities.
            [provided by RefSeq, Dec 2016].
            Transcript Variant: This variant (1) represents the use of an
            alternate promoter and contains an alternate 5' exon (I.1),
            compared to variant 4. All variants encode the same protein. The 5'
            end of this transcript contains long terminal repeat (LTR)
            sequence, initiates from an LTR promoter and results in
            placenta-specific expression. (PMID: 19577618).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4403
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.2"
     gene            1..4403
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /note="cytochrome P450 family 19 subfamily A member 1"
                     /db_xref="GeneID:1588"
                     /db_xref="HGNC:HGNC:2594"
                     /db_xref="MIM:107910"
     misc_feature    108..110
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /note="upstream in-frame stop codon"
     CDS             141..1652
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /EC_number="1.14.14.14"
                     /note="microsomal monooxygenase; flavoprotein-linked
                     monooxygenase; estrogen synthetase; cytochrome P450, family
                     19, subfamily A, polypeptide 1; cytochrome P450, subfamily
                     XIX (aromatization of androgens); cytochrome P450 19A1;
                     estrogen synthase; cytochrome P-450AROM"
                     /codon_start=1
                     /product="aromatase"
                     /protein_id="NP_000094.2"
                     /db_xref="CCDS:CCDS10139.1"
                     /db_xref="GeneID:1588"
                     /db_xref="HGNC:HGNC:2594"
                     /db_xref="MIM:107910"
                     /translation="MVLEMLNPIHYNITSIVPEAMPAATMPVLLLTGLFLLVWNYEGTS
                     SIPGPGYCMGIGPLISHGRFLWMGIGSACNYYNRVYGEFMRVWISGEETLIISKSSSMF
                     HIMKHNHYSSRFGSKLGLQCIGMHEKGIIFNNNPELWKTTRPFFMKALSGPGLVRMVTV
                     CAESLKTHLDRLEEVTNESGYVDVLTLLRRVMLDTSNTLFLRIPLDESAIVVKIQGYFD
                     AWQALLIKPDIFFKISWLYKKYEKSVKDLKDAIEVLIAEKRRRISTEEKLEECMDFATE
                     LILAEKRGDLTRENVNQCILEMLIAAPDTMSVSLFFMLFLIAKHPNVEEAIIKEIQTVI
                     GERDIKIDDIQKLKVMENFIYESMRYQPVVDLVMRKALEDDVIDGYPVKKGTNIILNIG
                     RMHRLEFFPKPNEFTLENFAKNVPYRYFQPFGFGPRGCAGKYIAMVMMKAILVTLLRRF
                     HVKTLQGQCVESIQKIHDLSLHPDETKNMLEMIFTPRNSDRCLEH"
     misc_feature    195..257
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /note="propagated from UniProtKB/Swiss-Prot (P11511.3);
                     transmembrane region"
     misc_feature    1047..1109
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /note="propagated from UniProtKB/Swiss-Prot (P11511.3);
                     transmembrane region"
     regulatory      2963..2968
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /note="hexamer: ATTAAA"
     polyA_site      2988
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /note="major polyA site"
ORIGIN
        1 gagtttctgg agggctgaac acgtggaggc aaacaggaag gtgaagaaga acttatccta
       61 tcaggacgga aggtcctgtg ctcgggatct tccagacgtc gcgactctaa attgccccct
      121 ctgaggtcaa ggaacacaag atggttttgg aaatgctgaa cccgatacat tataacatca
      181 ccagcatcgt gcctgaagcc atgcctgctg ccaccatgcc agtcctgctc ctcactggcc
      241 tttttctctt ggtgtggaat tatgagggca catcctcaat accaggtcct ggctactgca
      301 tgggaattgg acccctcatc tcccacggca gattcctgtg gatggggatc ggcagtgcct
      361 gcaactacta caaccgggta tatggagaat tcatgcgagt ctggatctct ggagaggaaa
      421 cactcattat cagcaagtcc tcaagtatgt tccacataat gaagcacaat cattacagct
      481 ctcgattcgg cagcaaactt gggctgcagt gcatcggtat gcatgagaaa ggcatcatat
      541 ttaacaacaa tccagagctc tggaaaacaa ctcgaccctt ctttatgaaa gctctgtcag
      601 gccccggcct tgttcgtatg gtcacagtct gtgctgaatc cctcaaaaca catctggaca
      661 ggttggagga ggtgaccaat gaatcgggct atgtggacgt gttgaccctt ctgcgtcgtg
      721 tcatgctgga cacctctaac acgctcttct tgaggatccc tttggacgaa agtgctatcg
      781 tggttaaaat ccaaggttat tttgatgcat ggcaagctct cctcatcaaa ccagacatct
      841 tctttaagat ttcttggcta tacaaaaagt atgagaagtc tgtcaaggat ttgaaagatg
      901 ccatagaagt tctgatagca gaaaaaagac gcaggatttc cacagaagag aaactggaag
      961 aatgtatgga ctttgccact gagttgattt tagcagagaa acgtggtgac ctgacaagag
     1021 agaatgtgaa ccagtgcata ttggaaatgc tgatcgcagc tcctgacacc atgtctgtct
     1081 ctttgttctt catgctattt ctcattgcaa agcaccctaa tgttgaagag gcaataataa
     1141 aggaaatcca gactgttatt ggtgagagag acataaagat tgatgatata caaaaattaa
     1201 aagtgatgga aaacttcatt tatgagagca tgcggtacca gcctgtcgtg gacttggtca
     1261 tgcgcaaagc cttagaagat gatgtaatcg atggctaccc agtgaaaaag gggacaaaca
     1321 ttatcctgaa tattggaagg atgcacagac tcgagttttt ccccaaaccc aatgaattta
     1381 ctcttgaaaa ttttgcaaag aatgttcctt ataggtactt tcagccattt ggctttgggc
     1441 cccgtggctg tgcaggaaag tacatcgcca tggtgatgat gaaagccatc ctcgttacac
     1501 ttctgagacg attccacgtg aagacattgc aaggacagtg tgttgagagc atacagaaga
     1561 tacacgactt gtccttgcac ccagatgaga ctaaaaacat gctggaaatg atctttaccc
     1621 caagaaactc agacaggtgt ctggaacact agagaaggct ggtcagtacc cactctggag
     1681 catttctcat cagtagttca catacaaatc atccatcctt gccaatagtg tcatcctcac
     1741 agtgaacact cagtggccca tggcatttta taggcatacc tcctatgggt tgtcaccaag
     1801 ctaggtgcta tttgtcatct gctcctgttc acaccagaga accaggctac aagagaaaaa
     1861 gcagaggcca agagtttgag ggagaaatag tcggtgaaga aaccgtatcc ataaagaccc
     1921 gattccacca aatgtgcttt gagaaggata ggccttcatt aacaaaatgt atgtctggtt
     1981 ccccagtaga gctctactgc ctcaacccaa ggggattttt atgtctgggg cagaaacact
     2041 caagttgatt agaaagacca ggccaatgtc agggtacctg gggccaaacc cacctgctag
     2101 tgtgaattaa agtactttaa ttttgttttc tgtggaggtg gaaaagcaac attcatagtc
     2161 tttggagaaa tgcttagaaa ttcagcattt gacccttgct gtgaattaag cccaattaat
     2221 tcctgtttgt ctacatatga tctgtctgtg gcaaaagttt aatcagagga aattctttcc
     2281 cagtctgtcg atttatgcct cagccacttg cctgtgctac aattcattgt gttacctgta
     2341 gattcaggta atacaaacta tatataatca tcaagtaata caaactaatt tagtaatagc
     2401 ctgggttaag tattattagg gccctgtgtc tgctgtagaa aaaaaaattc acatgatgca
     2461 cttcaaattc aaataaaaat ccttttggca tgttcccatt tttgcttagc tcaattagtg
     2521 tggctaacca agagataact gtaaatgtga cattgatttg ctcttactac agcttcagtg
     2581 attgggggag gaaaagtccc aacccaatgg gctcaaactt ctaaggggta ctcctctcat
     2641 ccccttatcc ttctccctcg acattttctc cctctttctt cccatgaccc caaagccaag
     2701 ggcaacagat cagtaaagaa cgtggtcaga gtagaacccc tgaagtattt tttaatccta
     2761 cctcaaaatt taacagttac ctgagagatt taacattatc tagttcattg aatcattgta
     2821 tgtggtcatg gataaattgc acaccttgga attcgctttc taaaggaaat caaatgaatg
     2881 gaggaacttt ccaaacacca ctttacttgt gttatatagc caatataact atctctactg
     2941 aatgtcattg aaaaactaaa aaattaaact tatttacaaa taggtaaata tttgtcattg
     3001 aatccattgc catcccattt gactgttctt ttcatcctac tgtctagtaa taagctgagt
     3061 ataagatgac agtgtaatct ccctgaaagc aggagctact ttctttcttt tgtaatctat
     3121 ttccatcccc atttccctgt cctgtctccc tgtattcact cccaagctca gttctgaata
     3181 gacattcctg ctcagagata ctcccaactg atgcagaaac caaataaaga ggtaggtatt
     3241 ccaagaattc aagaatggac attagtaaag aataaaacat ttatttgagc ttggaattat
     3301 ttggatcatc tatatggcct aaaaatatat ggactatgcc tgtgtacctg aatacgtatg
     3361 tagtcaggtc aagacaatca tccaaataac ttagacccct aaaagcaagg ccaggatttg
     3421 caatttaatg tgtcccaatt aattcacttg aaaattagta acactctgtt tacgttgcct
     3481 ctggctggag ctgcatggtg gaagaagccc aactttggat ccatgtactt cacccatcca
     3541 atactcttgg gacatttatg tgtattttat ctgtatatat gaagccaatg tctatgtcta
     3601 cacagtcaaa gtgaaatgca tgtttgatat agctgtacat agatatctat tttgcaggta
     3661 caaaaatatc ctgggggaaa actgggagtg gaagggtggg gggtgggagt gagggacatg
     3721 ggggagggac aggaagagga gaagtgttgg tttgaacgat ccaagcaaac tctcccagaa
     3781 tcaaattacc tgggtagttg ttcaactttt cactctgctt agcctgtata gacaaacccc
     3841 atatatttgt agaggcttgg ccttggaatt ctggaatacc attggctttt cagtaggctg
     3901 atgaacacat tttgaaaatt ctattatctt cagaattttg ccccattgtt aagtgcttaa
     3961 ccgtcactct tgaatgtgca atgtgctgtg gattccattt tcatcagttc tgaaagaact
     4021 gcaatgtgta aattatcagt gaaatgcatg catataaggg ctctatcatt atcaaattgt
     4081 aaggacaatt gtacccttct atatctttgg gcatgctaga cacccccatg ccttcattga
     4141 gatcccattt tccccctctc aagtggaaaa taatcacatc cagcaagctc tctcattatt
     4201 gagaaatacc atttggaaat tgccactttt tattcctaag cagcaccttt cactgttcat
     4261 gatgctaatg ttccacaaaa gcatgtgcca ttggcccact gaaggataga gggacccttt
     4321 tcaatctata tcagctgggc tctgggactg aatctctcac ctattcttgc agaaagacat
     4381 actaattaaa ccttgtcaaa gta
//
LOCUS       NM_000104               5218 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens cytochrome P450 family 1 subfamily B member 1 (CYP1B1),
            mRNA.
ACCESSION   NM_000104
VERSION     NM_000104.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5218)
  AUTHORS   Ye G, Li J, Yu W, Xie Z, Zheng G, Liu W, Wang S, Cao Q, Lin J, Su Z,
            Li D, Che Y, Fan S, Wang P, Wu Y and Shen H.
  TITLE     ALKBH5 facilitates CYP1B1 mRNA degradation via m6A demethylation to
            alleviate MSC senescence and osteoarthritis progression
  JOURNAL   Exp Mol Med 55 (8), 1743-1756 (2023)
   PUBMED   37524872
  REMARK    GeneRIF: ALKBH5 facilitates CYP1B1 mRNA degradation via m6A
            demethylation to alleviate MSC senescence and osteoarthritis
            progression.
REFERENCE   2  (bases 1 to 5218)
  AUTHORS   Lin YC, Cheung G, Zhang Z and Papadopoulos V.
  TITLE     Mitochondrial cytochrome P450 1B1 is involved in pregnenolone
            synthesis in human brain cells
  JOURNAL   J Biol Chem 299 (8), 105035 (2023)
   PUBMED   37442234
  REMARK    GeneRIF: Mitochondrial cytochrome P450 1B1 is involved in
            pregnenolone synthesis in human brain cells.
REFERENCE   3  (bases 1 to 5218)
  AUTHORS   Dutkiewicz Z and Mikstacka R.
  TITLE     Hydration and Structural Adaptations of the Human CYP1A1, CYP1A2,
            and CYP1B1 Active Sites by Molecular Dynamics Simulations
  JOURNAL   Int J Mol Sci 24 (14), 11481 (2023)
   PUBMED   37511239
  REMARK    GeneRIF: Hydration and Structural Adaptations of the Human CYP1A1,
            CYP1A2, and CYP1B1 Active Sites by Molecular Dynamics Simulations.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5218)
  AUTHORS   Franzin R, Stasi A, De Palma G, Picerno A, Curci C, Sebastiano S,
            Campioni M, Cicirelli A, Rizzo A, Di Lorenzo VF, Pontrelli P,
            Pertosa GB, Castellano G, Gesualdo L and Sallustio F.
  TITLE     Human Adult Renal Progenitor Cells Prevent Cisplatin-Nephrotoxicity
            by Inducing CYP1B1 Overexpression and miR-27b-3p Down-Regulation
            through Extracellular Vesicles
  JOURNAL   Cells 12 (12), 1655 (2023)
   PUBMED   37371125
  REMARK    GeneRIF: Human Adult Renal Progenitor Cells Prevent
            Cisplatin-Nephrotoxicity by Inducing CYP1B1 Overexpression and
            miR-27b-3p Down-Regulation through Extracellular Vesicles.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5218)
  AUTHORS   Devlin AH, Thompson P, Robson T and McKeown SR.
  TITLE     Cytochrome P450 1B1 mRNA untranslated regions interact to inhibit
            protein translation
  JOURNAL   Mol Carcinog 49 (2), 190-199 (2010)
   PUBMED   19908239
REFERENCE   6  (bases 1 to 5218)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 5218)
  AUTHORS   Tang YM, Wo YY, Stewart J, Hawkins AL, Griffin CA, Sutter TR and
            Greenlee WF.
  TITLE     Isolation and characterization of the human cytochrome P450 CYP1B1
            gene
  JOURNAL   J Biol Chem 271 (45), 28324-28330 (1996)
   PUBMED   8910454
REFERENCE   8  (bases 1 to 5218)
  AUTHORS   Sutter TR, Tang YM, Hayes CL, Wo YY, Jabs EW, Li X, Yin H, Cody CW
            and Greenlee WF.
  TITLE     Complete cDNA sequence of a human dioxin-inducible mRNA identifies a
            new gene subfamily of cytochrome P450 that maps to chromosome 2
  JOURNAL   J Biol Chem 269 (18), 13092-13099 (1994)
   PUBMED   8175734
REFERENCE   9  (bases 1 to 5218)
  AUTHORS   Abu-Amero,K.K. and Edward,D.P.
  TITLE     Primary Congenital Glaucoma
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301314
REFERENCE   10  (bases 1 to 5218)
  AUTHORS   Sutter TR, Guzman K, Dold KM and Greenlee WF.
  TITLE     Targets for dioxin: genes for plasminogen activator inhibitor-2 and
            interleukin-1 beta
  JOURNAL   Science 254 (5030), 415-418 (1991)
   PUBMED   1925598
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.379689.1, U03688.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000610745.5/ ENSP00000478561.1
            RefSeq Select criteria :: based on single protein-coding transcript
            regulatory uORF             :: PMID: 19908239
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009229.6, KF573675.1 and
            KF459611.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 21, 2020 this sequence version replaced NM_000104.3.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            The enzyme encoded by this gene localizes to the endoplasmic
            reticulum and metabolizes procarcinogens such as polycyclic
            aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene
            have been associated with primary congenital glaucoma; therefore it
            is thought that the enzyme also metabolizes a signaling molecule
            involved in eye development, possibly a steroid. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5218
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.2"
     gene            1..5218
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /note="cytochrome P450 family 1 subfamily B member 1"
                     /db_xref="GeneID:1545"
                     /db_xref="HGNC:HGNC:2597"
                     /db_xref="MIM:601771"
     regulatory      63..113
                     /regulatory_class="uORF"
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:19908239]"
                     /note="regulatory uORF; this uORF is predicted to encode a
                     16 aa peptide (PMID:19908239)"
     regulatory      63..113
                     /regulatory_class="uORF"
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:19908239]"
                     /note="this uORF is predicted to encode a 16 aa peptide
                     (PMID:19908239)"
     misc_feature    209..211
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /note="upstream in-frame stop codon"
     CDS             374..2005
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /EC_number="1.14.14.1"
                     /EC_number="4.2.1.152"
                     /note="microsomal monooxygenase; xenobiotic monooxygenase;
                     flavoprotein-linked monooxygenase; aryl hydrocarbon
                     hydroxylase; cytochrome P450, family 1, subfamily B,
                     polypeptide 1; cytochrome P450, subfamily I
                     (dioxin-inducible), polypeptide 1 (glaucoma 3, primary
                     infantile); dioxin-inducible cytochrome p450; hydroperoxy
                     icosatetraenoate dehydratase"
                     /codon_start=1
                     /product="cytochrome P450 1B1"
                     /protein_id="NP_000095.2"
                     /db_xref="CCDS:CCDS1793.1"
                     /db_xref="GeneID:1545"
                     /db_xref="HGNC:HGNC:2597"
                     /db_xref="MIM:601771"
                     /translation="MGTSLSPNDPWPLNPLSIQQTTLLLLLSVLATVHVGQRLLRQRRR
                     QLRSAPPGPFAWPLIGNAAAVGQAAHLSFARLARRYGDVFQIRLGSCPIVVLNGERAIH
                     QALVQQGSAFADRPAFASFRVVSGGRSMAFGHYSEHWKVQRRAAHSMMRNFFTRQPRSR
                     QVLEGHVLSEARELVALLVRGSADGAFLDPRPLTVVAVANVMSAVCFGCRYSHDDPEFR
                     ELLSHNEEFGRTVGAGSLVDVMPWLQYFPNPVRTVFREFEQLNRNFSNFILDKFLRHCE
                     SLRPGAAPRDMMDAFILSAEKKAAGDSHGGGARLDLENVPATITDIFGASQDTLSTALQ
                     WLLLLFTRYPDVQTRVQAELDQVVGRDRLPCMGDQPNLPYVLAFLYEAMRFSSFVPVTI
                     PHATTANTSVLGYHIPKDTVVFVNQWSVNHDPLKWPNPENFDPARFLDKDGLINKDLTS
                     RVMIFSVGKRRCIGEELSKMQLFLFISILAHQCDFRANPNEPAKMNFSYGLTIKPKSFK
                     VNVTLRESMELLDSAVQNLQAKETCQ"
     misc_feature    1556..1558
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /note="Major determinant of CYP1B1 17beta-estradiol
                     hydroxylation regiospecificity; propagated from
                     UniProtKB/Swiss-Prot (Q16678.2); other site"
     misc_feature    1781..1783
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /note="heme binding site"
     regulatory      5100..5105
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /note="hexamer: AATAAA"
     polyA_site      5119
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /note="major polyA site"
     polyA_site      5149
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
     regulatory      5198..5203
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /note="hexamer: ATTAAA"
     polyA_site      5218
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
ORIGIN
        1 gactctggag tgggagtggg agcgagcgct tctgcgactc cagttgtgag agccgcaagg
       61 gcatgggaat tgacgccact caccgacccc cagtctcaat ctcaacgctg tgaggaaacc
      121 tcgactttgc caggtcccca agggcagcgg ggctcggcga gcgaggcacc cttctccgtc
      181 cccatcccaa tccaagcgct cctggcactg acgacgccaa gagactcgag tgggagttaa
      241 agcttccagt gagggcagca ggtgtccagg ccgggcctgc gggttcctgt tgacgtcttg
      301 ccctaggcaa aggtcccagt tccttctcgg agccggctgt cccgcgccac tggaaaccgc
      361 acctccccgc agcatgggca ccagcctcag cccgaacgac ccttggccgc taaacccgct
      421 gtccatccag cagaccacgc tcctgctact cctgtcggtg ctggccactg tgcatgtggg
      481 ccagcggctg ctgaggcaac ggaggcggca gctccggtcc gcgcccccgg gcccgtttgc
      541 gtggccactg atcggaaacg cggcggcggt gggccaggcg gctcacctct cgttcgctcg
      601 cctggcgcgg cgctacggcg acgttttcca gatccgcctg ggcagctgcc ccatagtggt
      661 gctgaatggc gagcgcgcca tccaccaggc cctggtgcag cagggctcgg ccttcgccga
      721 ccggccggcc ttcgcctcct tccgtgtggt gtccggcggc cgcagcatgg ctttcggcca
      781 ctactcggag cactggaagg tgcagcggcg cgcagcccac agcatgatgc gcaacttctt
      841 cacgcgccag ccgcgcagcc gccaagtcct cgagggccac gtgctgagcg aggcgcgcga
      901 gctggtggcg ctgctggtgc gcggcagcgc ggacggcgcc ttcctcgacc cgaggccgct
      961 gaccgtcgtg gccgtggcca acgtcatgag tgccgtgtgt ttcggctgcc gctacagcca
     1021 cgacgacccc gagttccgtg agctgctcag ccacaacgaa gagttcgggc gcacggtggg
     1081 cgcgggcagc ctggtggacg tgatgccctg gctgcagtac ttccccaacc cggtgcgcac
     1141 cgttttccgc gaattcgagc agctcaaccg caacttcagc aacttcatcc tggacaagtt
     1201 cttgaggcac tgcgaaagcc ttcggcccgg ggccgccccc cgcgacatga tggacgcctt
     1261 tatcctctct gcggaaaaga aggcggccgg ggactcgcac ggtggtggcg cgcggctgga
     1321 tttggagaac gtaccggcca ctatcactga catcttcggc gccagccagg acaccctgtc
     1381 caccgcgctg cagtggctgc tcctcctctt caccaggtat cctgatgtgc agactcgagt
     1441 gcaggcagaa ttggatcagg tcgtggggag ggaccgtctg ccttgtatgg gtgaccagcc
     1501 caacctgccc tatgtcctgg ccttccttta tgaagccatg cgcttctcca gctttgtgcc
     1561 tgtcactatt cctcatgcca ccactgccaa cacctctgtc ttgggctacc acattcccaa
     1621 ggacactgtg gtttttgtca accagtggtc tgtgaatcat gacccactga agtggcctaa
     1681 cccggagaac tttgatccag ctcgattctt ggacaaggat ggcctcatca acaaggacct
     1741 gaccagcaga gtgatgattt tttcagtggg caaaaggcgg tgcattggcg aagaactttc
     1801 taagatgcag ctttttctct tcatctccat cctggctcac cagtgcgatt tcagggccaa
     1861 cccaaatgag cctgcgaaaa tgaatttcag ttatggtcta accattaaac ccaagtcatt
     1921 taaagtcaat gtcactctca gagagtccat ggagctcctt gatagtgctg tccaaaattt
     1981 acaagccaag gaaacttgcc aataagaagc aagaggcaag ctgaaatttt agaaatattc
     2041 acatcttcgg agatgaggag taaaattcag tttttttcca gttcctcttt tgtgctgctt
     2101 ctcaattagc gtttaaggtg agcataaatc aactgtccat caggtgaggt gtgctccata
     2161 cccagcggtt cttcatgagt agtgggctat gcaggagctt ctgggagatt tttttgagtc
     2221 aaagacttaa agggcccaat gaattattat atacatactg catcttggtt atttctgaag
     2281 gtagcattct ttggagttaa aatgcacata tagacacata cacccaaaca cttacaccaa
     2341 actactgaat gaagcagtat tttggtaacc aggccatttt tggtgggaat ccaagattgg
     2401 tctcccatat gcagaaatag acaaaaagta tattaaacaa agtttcagag tatattgttg
     2461 aagagacaga gacaagtaat ttcagtgtaa agtgtgtgat tgaaggtgat aagggaaaag
     2521 ataaagacca gaaattccct tttcaccttt tcaggaaaat aacttagact ctagtattta
     2581 tgggtggatt tatccttttg ccttctggta tacttcctta cttttaagga taaatcataa
     2641 agtcagttgc tcaaaaagaa atcaatagtt gaattagtga gtatagtggg gttccatgag
     2701 ttatcatgaa ttttaaagta tgcattatta aattgtaaaa ctccaaggtg atgttgtacc
     2761 tcttttgctt gccaaagtac agaatttgaa ttatcagcaa agaaaaaaaa aaaagccagc
     2821 caagctttaa attatgtgac cataatgtac tgatttcagt aagtctcata ggttaaaaaa
     2881 aaaagtcacc aaatagtgtg aaatatatta cttaactgtc cgtaagcagt atattagtat
     2941 tatcttgttc aggaaaaggt tgaataatat atgccttgta taatattgaa aattgaaaag
     3001 tacaactaac gcaaccaagt gtgctaaaaa tgagcttgat taaatcaacc acctattttt
     3061 gacatggaaa tgaagcaggg tttcttttct tcactcaaat tttggcgaat ctcaaaatta
     3121 gatcctaaga tgtgttctta tttttataac atctttattg aaattctatt tataatacag
     3181 aatcttgttt tgaaaataac ctaattaata tattaaaatt ccaaattcat ggcatgctta
     3241 aattttaact aaattttaaa gccattctga ttattgagtt ccagttgaag ttagtggaaa
     3301 tctgaacatt ctcctgtgga aggcagagaa atctaagctg tgtctgccca atgaataatg
     3361 gaaaatgcca tgaattacct ggatgttctt tttacgaggt gacaagagtt ggggacagaa
     3421 ctcccattac aactgaccaa gtttctcttc tagatgattt tttgaaagtt aacattaatg
     3481 cctgcttttt ggaaagtcag aatcagaaga tagtcttgga agctgtttgg aaaagacagt
     3541 ggagatgagg tcagttgtgt tttttaagat ggcaattact ttggtagctg ggaaagcata
     3601 aagctcaaat gaaatgtatg cattcacatt tagaaaagtg aattgaagtt tcaagtttta
     3661 aagttcattg caattaaact tccaaagaaa gttctacagt gtcctaagtg ctaagtgctt
     3721 attacatttt attaagcttt ttggaatctt tgtaccaaaa ttttaaaaaa gggagttttt
     3781 gatagttgtg tgtatgtgtg tgtggggtgg ggggatggta agagaaaaga gagaaacact
     3841 gaaaagaagg aaagatggtt aaacattttc ccactcattc tgaattaatt aatttggagc
     3901 acaaaattca aagcatggac atttagaaga aagatgtttg gcgtagcaga gttaaatctc
     3961 aaataggcta ttaaaaaagt ctacaacata gcagatctgt tttgtggttt ggaatattaa
     4021 aaaacttcat gtaattttat tttaaaattt catagctgta cttcttgaat ataaaaaatc
     4081 atgccagtat ttttaaaggc attagagtca actacacaaa gcaggcttgc ccagtacatt
     4141 taaatttttt ggcacttgcc attccaaaat attatgcccc accaaggctg agacagtgaa
     4201 tttgggctgc tgtagcctat ttttttagat tgagaaatgt gtagctgcaa aaataatcat
     4261 gaaccaatct ggatgcctca ttatgtcaac caggtccaga tgtgctataa tctgttttta
     4321 cgtatgtagg cccagtcgtc atcagatgct tgcggcaaaa ggaaagctgt gtttatatgg
     4381 aagaaagtaa ggtgcttgga gtttacctgg cttatttaat atgcttataa cctagttaaa
     4441 gaaaggaaaa gaaaacaaaa aacgaatgaa aataactgaa tttggaggct ggagtaatca
     4501 gattactgct ttaatcagaa accctcattg tgtttctacc ggagagagaa tgtatttgct
     4561 gacaaccatt aaagtcagaa gttttactcc aggttattgc aataaagtat aatgtttatt
     4621 aaatgcttca tttgtatgtc aaagctttga ctctataagc aaattgcttt tttccaaaac
     4681 aaaaagatgt ctcaggtttg ttttgtgaat tttctaaaag ctttcatgtc ccagaactta
     4741 gcctttacct gtgaagtgtt actacagcct taatattttc ctagtagatc tatattagat
     4801 caaatagttg catagcagta tatgttaatt tgtgtgtttt tagctgtgac acaactgtgt
     4861 gattaaaagg tatactttag tagacattta taactcaagg ataccttctt atttaatctt
     4921 ttcttatttt tgtactttat catgaatgct tttagtgtgt gcataatagc tacagtgcat
     4981 agttgtagac aaagtacatt ctggggaaac aacatttata tgtagccttt actgtttgat
     5041 ataccaaatt aaaaaaaaat tgtatctcat tacttatact gggacaccat taccaaaata
     5101 ataaaaatca ctttcataat cttgttatga agttttatgt tgtagcaaat atagtctaat
     5161 gtatcacttt atttcaacta ttactatgga ttattcaatt aaaatattgc actgtaaa
//
LOCUS       NM_000106               1588 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily D member 6 (CYP2D6),
            transcript variant 1, mRNA.
ACCESSION   NM_000106
VERSION     NM_000106.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1588)
  AUTHORS   Trilla-Fuertes L, Gamez-Pozo A, Nogue M, Busquier I, Arias F,
            Lopez-Campos F, Fernandez-Montes A, Ruiz A, Velazquez C,
            Martin-Bravo C, Perez-Ruiz E, Asensio E, Hernandez-Yague X,
            Rodrigues A, Ghanem I, Lopez-Vacas R, Hafez A, Arias P, Dapia I,
            Solis M, Dittmann A, Ramos R, Llorens C, Maurel J, Campos-Barros A,
            Fresno Vara JA and Feliu J.
  TITLE     Utility of CYP2D6 copy number variants as prognostic biomarker in
            localized anal squamous cell carcinoma
  JOURNAL   Cancer 129 (16), 2581-2592 (2023)
   PUBMED   37096763
  REMARK    GeneRIF: Utility of CYP2D6 copy number variants as prognostic
            biomarker in localized anal squamous cell carcinoma.
REFERENCE   2  (bases 1 to 1588)
  AUTHORS   Bostrom AED, Jamshidi E, Manu DM, Kular L, Schioth HB, Asberg M and
            Jokinen J.
  TITLE     Epigenetic changes in the CYP2D6 gene are related to severity of
            suicide attempt: A cross-sectional study of suicide attempters
  JOURNAL   J Psychiatr Res 160, 217-224 (2023)
   PUBMED   36857986
  REMARK    GeneRIF: Epigenetic changes in the CYP2D6 gene are related to
            severity of suicide attempt: A cross-sectional study of suicide
            attempters.
REFERENCE   3  (bases 1 to 1588)
  AUTHORS   Hassen LM, Daghestani MH, Omair MA, Althomali AK, Almukaynizi FB and
            Almaghlouth IA.
  TITLE     CYP2D6 genetic polymorphisms in Saudi systemic lupus erythematosus
            patients: A cross-sectional study
  JOURNAL   Saudi Med J 44 (3), 237-245 (2023)
   PUBMED   36940959
  REMARK    GeneRIF: CYP2D6 genetic polymorphisms in Saudi systemic lupus
            erythematosus patients: A cross-sectional study.
REFERENCE   4  (bases 1 to 1588)
  AUTHORS   Fu D, Guo HL, Hu YH and Chen F.
  TITLE     [A precision medication study of atomoxetine in children with
            attention deficit hyperactivity disorder: CYP2D6 genetic testing and
            therapeutic drug monitoring]
  JOURNAL   Zhongguo Dang Dai Er Ke Za Zhi 25 (1), 98-103 (2023)
   PUBMED   36655671
  REMARK    GeneRIF: [A precision medication study of atomoxetine in children
            with attention deficit hyperactivity disorder: CYP2D6 genetic
            testing and therapeutic drug monitoring]. Review article
REFERENCE   5  (bases 1 to 1588)
  AUTHORS   Kamiya T, Hira D, Nakajima R, Shinoda K, Motomochi A, Morikochi A,
            Ikeda Y, Isono T, Akabane M, Ueshima S, Kakumoto M, Imai S, Morita
            SY and Terada T.
  TITLE     Decreased Analgesic Effect of Tramadol in Japanese Patients with
            CYP2D6 Intermediate Metabolizers after Orthopedic Surgery
  JOURNAL   Biol Pharm Bull 46 (7), 907-913 (2023)
   PUBMED   37394642
  REMARK    GeneRIF: Decreased Analgesic Effect of Tramadol in Japanese Patients
            with CYP2D6 Intermediate Metabolizers after Orthopedic Surgery.
REFERENCE   6  (bases 1 to 1588)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 1588)
  AUTHORS   Tyndale R, Aoyama T, Broly F, Matsunaga T, Inaba T, Kalow W, Gelboin
            HV, Meyer UA and Gonzalez FJ.
  TITLE     Identification of a new variant CYP2D6 allele lacking the codon
            encoding Lys-281: possible association with the poor metabolizer
            phenotype
  JOURNAL   Pharmacogenetics 1 (1), 26-32 (1991)
   PUBMED   1844820
REFERENCE   8  (bases 1 to 1588)
  AUTHORS   Gaedigk A, Blum M, Gaedigk R, Eichelbaum M and Meyer UA.
  TITLE     Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of
            impaired drug metabolism in poor metabolizers of the
            debrisoquine/sparteine polymorphism
  JOURNAL   Am J Hum Genet 48 (5), 943-950 (1991)
   PUBMED   1673290
REFERENCE   9  (bases 1 to 1588)
  AUTHORS   Hanioka N, Kimura S, Meyer UA and Gonzalez FJ.
  TITLE     The human CYP2D locus associated with a common genetic defect in
            drug oxidation: a G1934----A base change in intron 3 of a mutant
            CYP2D6 allele results in an aberrant 3' splice recognition site
  JOURNAL   Am J Hum Genet 47 (6), 994-1001 (1990)
   PUBMED   1978565
REFERENCE   10  (bases 1 to 1588)
  AUTHORS   Gough AC, Miles JS, Spurr NK, Moss JE, Gaedigk A, Eichelbaum M and
            Wolf CR.
  TITLE     Identification of the primary gene defect at the cytochrome P450
            CYP2D locus
  JOURNAL   Nature 347 (6295), 773-776 (1990)
   PUBMED   1978251
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC075023.2, M20403.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN04284274
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000645361.2/ ENSP00000496150.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC075023.2 and AW297258.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 27, 2018 this sequence version replaced NM_000106.5.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum and is known to
            metabolize as many as 25% of commonly prescribed drugs. Its
            substrates include antidepressants, antipsychotics, analgesics and
            antitussives, beta adrenergic blocking agents, antiarrythmics and
            antiemetics. The gene is highly polymorphic in the human
            population; certain alleles result in the poor metabolizer
            phenotype, characterized by a decreased ability to metabolize the
            enzyme's substrates. Some individuals with the poor metabolizer
            phenotype have no functional protein since they carry 2 null
            alleles whereas in other individuals the gene is absent. This gene
            can vary in copy number and individuals with the ultrarapid
            metabolizer phenotype can have 3 or more active copies of the gene.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2014].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1588
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..1588
                     /gene="CYP2D6"
                     /gene_synonym="CPD6; CYP2D; CYP2D7AP; CYP2D7BP; CYP2D7P2;
                     CYP2D8P2; CYP2DL1; CYPIID6; P450-DB1; P450C2D; P450DB1"
                     /note="cytochrome P450 family 2 subfamily D member 6"
                     /db_xref="GeneID:1565"
                     /db_xref="HGNC:HGNC:2625"
                     /db_xref="MIM:124030"
     CDS             20..1513
                     /gene="CYP2D6"
                     /gene_synonym="CPD6; CYP2D; CYP2D7AP; CYP2D7BP; CYP2D7P2;
                     CYP2D8P2; CYP2DL1; CYPIID6; P450-DB1; P450C2D; P450DB1"
                     /EC_number="1.14.14.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     debrisoquine 4-hydroxylase; microsomal monooxygenase;
                     xenobiotic monooxygenase; flavoprotein-linked
                     monooxygenase; cytochrome P450, subfamily IID
                     (debrisoquine, sparteine, etc., -metabolizing), polypeptide
                     6; cytochrome P450, family 2, subfamily D, polypeptide 7
                     pseudogene 2; cholesterol 25-hydroxylase; cytochrome P450,
                     family 2, subfamily D, polypeptide 8 pseudogene 2;
                     nonfunctional cytochrome P450 2D6; cytochrome P450,
                     subfamily II (debrisoquine, sparteine, etc.,
                     -metabolising), polypeptide 7 pseudogene 2; cytochrome
                     P450, subfamily IID (debrisoquine, sparteine, etc.,
                     -metabolising), polypeptide 8 pseudogene 2; cytochrome
                     P450, subfamily IID (debrisoquine, sparteine, etc.,
                     -metabolizing)-like 1; cytochrome P450-DB1; cytochrome
                     P450, family 2, subfamily D, polypeptide 6"
                     /codon_start=1
                     /product="cytochrome P450 2D6 isoform 1"
                     /protein_id="NP_000097.3"
                     /db_xref="CCDS:CCDS46721.1"
                     /db_xref="GeneID:1565"
                     /db_xref="HGNC:HGNC:2625"
                     /db_xref="MIM:124030"
                     /translation="MGLEALVPLAVIVAIFLLLVDLMHRRQRWAARYPPGPLPLPGLGN
                     LLHVDFQNTPYCFDQLRRRFGDVFSLQLAWTPVVVLNGLAAVREALVTHGEDTADRPPV
                     PITQILGFGPRSQGVFLARYGPAWREQRRFSVSTLRNLGLGKKSLEQWVTEEAACLCAA
                     FANHSGRPFRPNGLLDKAVSNVIASLTCGRRFEYDDPRFLRLLDLAQEGLKEESGFLRE
                     VLNAVPVLLHIPALAGKVLRFQKAFLTQLDELLTEHRMTWDPAQPPRDLTEAFLAEMEK
                     AKGNPESSFNDENLRIVVADLFSAGMVTTSTTLAWGLLLMILHPDVQRRVQQEIDDVIG
                     QVRRPEMGDQAHMPYTTAVIHEVQRFGDIVPLGVTHMTSRDIEVQGFRIPKGTTLITNL
                     SSVLKDEAVWEKPFRFHPEHFLDAQGHFVKPEAFLPFSAGRRACLGEPLARMELFLFFT
                     SLLQHFSFSVPTGQPRPSHHGVFAFLVSPSPYELCAVPR"
     regulatory      1565..1570
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2D6"
                     /gene_synonym="CPD6; CYP2D; CYP2D7AP; CYP2D7BP; CYP2D7P2;
                     CYP2D8P2; CYP2DL1; CYPIID6; P450-DB1; P450C2D; P450DB1"
                     /note="hexamer: AATAAA"
     polyA_site      1588
                     /gene="CYP2D6"
                     /gene_synonym="CPD6; CYP2D; CYP2D7AP; CYP2D7BP; CYP2D7P2;
                     CYP2D8P2; CYP2DL1; CYPIID6; P450-DB1; P450C2D; P450DB1"
                     /note="major polyA site"
ORIGIN
        1 atttggtagt gaggcaggta tggggctaga agcactggtg cccctggccg tgatagtggc
       61 catcttcctg ctcctggtgg acctgatgca ccggcgccaa cgctgggctg cacgctaccc
      121 accaggcccc ctgccactgc ccgggctggg caacctgctg catgtggact tccagaacac
      181 accatactgc ttcgaccagt tgcggcgccg cttcggggac gtgttcagcc tgcagctggc
      241 ctggacgccg gtggtcgtgc tcaatgggct ggcggccgtg cgcgaggcgc tggtgaccca
      301 cggcgaggac accgccgacc gcccgcctgt gcccatcacc cagatcctgg gtttcgggcc
      361 gcgttcccaa ggggtgttcc tggcgcgcta tgggcccgcg tggcgcgagc agaggcgctt
      421 ctccgtgtcc accttgcgca acttgggcct gggcaagaag tcgctggagc agtgggtgac
      481 cgaggaggcc gcctgccttt gtgccgcctt cgccaaccac tccggacgcc cctttcgccc
      541 caacggtctc ttggacaaag ccgtgagcaa cgtgatcgcc tccctcacct gcgggcgccg
      601 cttcgagtac gacgaccctc gcttcctcag gctgctggac ctagctcagg agggactgaa
      661 ggaggagtcg ggctttctgc gcgaggtgct gaatgctgtc cccgtcctcc tgcatatccc
      721 agcgctggct ggcaaggtcc tacgcttcca aaaggctttc ctgacccagc tggatgagct
      781 gctaactgag cacaggatga cctgggaccc agcccagccc ccccgagacc tgactgaggc
      841 cttcctggca gagatggaga aggccaaggg gaaccctgag agcagcttca atgatgagaa
      901 cctgcgcata gtggtggctg acctgttctc tgccgggatg gtgaccacct cgaccacgct
      961 ggcctggggc ctcctgctca tgatcctaca tccggatgtg cagcgccgtg tccaacagga
     1021 gatcgacgac gtgatagggc aggtgcggcg accagagatg ggtgaccagg ctcacatgcc
     1081 ctacaccact gccgtgattc atgaggtgca gcgctttggg gacatcgtcc ccctgggtgt
     1141 gacccatatg acatcccgtg acatcgaagt acagggcttc cgcatcccta agggaacgac
     1201 actcatcacc aacctgtcat cggtgctgaa ggatgaggcc gtctgggaga agcccttccg
     1261 cttccacccc gaacacttcc tggatgccca gggccacttt gtgaagccgg aggccttcct
     1321 gcctttctca gcaggccgcc gtgcatgcct cggggagccc ctggcccgca tggagctctt
     1381 cctcttcttc acctccctgc tgcagcactt cagcttctcg gtgcccactg gacagccccg
     1441 gcccagccac catggtgtct ttgctttcct ggtgagccca tccccctatg agctttgtgc
     1501 tgtgccccgc tagaatgggg tacctagtcc ccagcctgct ccctagccag aggctctaat
     1561 gtacaataaa gcaatgtggt agttccaa
//
LOCUS       NM_000107               1815 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens damage specific DNA binding protein 2 (DDB2),
            transcript variant WT, mRNA.
ACCESSION   NM_000107
VERSION     NM_000107.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1815)
  AUTHORS   de Souza Timoteo AR, Pinheiro de Almeida IC, Yurchenko AA, de
            Miranda Henriques SR, de Souza Segundo P, Rajabi F, Nikolaev S and
            Petta TB.
  TITLE     Brazilian XP-E siblings carrying a novel DDB2 variant developed
            early-onset melanoma: a case report
  JOURNAL   BMC Med Genomics 16 (1), 186 (2023)
   PUBMED   37573316
  REMARK    GeneRIF: Brazilian XP-E siblings carrying a novel DDB2 variant
            developed early-onset melanoma: a case report. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 1815)
  AUTHORS   Schule S, Bristy EA, Muhtadi R, Kaletka G, Stewart S, Ostheim P,
            Hermann C, Asang C, Pleimes D, Port M and Abend M.
  TITLE     Four Genes Predictive for the Severity of Hematological Damage
            Reveal a Similar Response after X Irradiation and Chemotherapy
  JOURNAL   Radiat Res 199 (2), 115-123 (2023)
   PUBMED   36480042
  REMARK    GeneRIF: Four Genes Predictive for the Severity of Hematological
            Damage Reveal a Similar Response after X Irradiation and
            Chemotherapy.
REFERENCE   3  (bases 1 to 1815)
  AUTHORS   Wang X, Huang Z, Li L, Yang Y, Zhang J, Wang L, Yuan J and Li Y.
  TITLE     The Role of Alternative Splicing Factors, DDB2-Related Ageing and
            DNA Damage Repair in the Progression and Prognosis of Stomach
            Adenocarcinoma Patients
  JOURNAL   Genes (Basel) 14 (1), 39 (2022)
   PUBMED   36672781
  REMARK    GeneRIF: The Role of Alternative Splicing Factors, DDB2-Related
            Ageing and DNA Damage Repair in the Progression and Prognosis of
            Stomach Adenocarcinoma Patients. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1815)
  AUTHORS   Li C, Zhang A, Hu T, Yang Y, Tang S and Li J.
  TITLE     Histone demethylase JHDM2A participates in the repair of
            arsenic-induced DNA damage in L-02 cells by regulating DDB2
  JOURNAL   Toxicol Ind Health 38 (6), 365-376 (2022)
   PUBMED   35579678
  REMARK    GeneRIF: Histone demethylase JHDM2A participates in the repair of
            arsenic-induced DNA damage in L-02 cells by regulating DDB2.
REFERENCE   5  (bases 1 to 1815)
  AUTHORS   Kumar N, Theil AF, Roginskaya V, Ali Y, Calderon M, Watkins SC,
            Barnes RP, Opresko PL, Pines A, Lans H, Vermeulen W and Van Houten
            B.
  TITLE     Global and transcription-coupled repair of 8-oxoG is initiated by
            nucleotide excision repair proteins
  JOURNAL   Nat Commun 13 (1), 974 (2022)
   PUBMED   35190564
  REMARK    GeneRIF: Global and transcription-coupled repair of 8-oxoG is
            initiated by nucleotide excision repair proteins. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 1815)
  AUTHORS   Hayes S, Shiyanov P, Chen X and Raychaudhuri P.
  TITLE     DDB, a putative DNA repair protein, can function as a
            transcriptional partner of E2F1
  JOURNAL   Mol Cell Biol 18 (1), 240-249 (1998)
   PUBMED   9418871
REFERENCE   7  (bases 1 to 1815)
  AUTHORS   Nichols AF, Ong P and Linn S.
  TITLE     Mutations specific to the xeroderma pigmentosum group E Ddb-
            phenotype
  JOURNAL   J Biol Chem 271 (40), 24317-24320 (1996)
   PUBMED   8798680
REFERENCE   8  (bases 1 to 1815)
  AUTHORS   Dualan R, Brody T, Keeney S, Nichols AF, Admon A and Linn S.
  TITLE     Chromosomal localization and cDNA cloning of the genes (DDB1 and
            DDB2) for the p127 and p48 subunits of a human damage-specific DNA
            binding protein
  JOURNAL   Genomics 29 (1), 62-69 (1995)
   PUBMED   8530102
REFERENCE   9  (bases 1 to 1815)
  AUTHORS   Keeney S, Chang GJ and Linn S.
  TITLE     Characterization of a human DNA damage binding protein implicated in
            xeroderma pigmentosum E
  JOURNAL   J Biol Chem 268 (28), 21293-21300 (1993)
   PUBMED   8407967
REFERENCE   10  (bases 1 to 1815)
  AUTHORS   Kraemer,K.H., DiGiovanna,J.J. and Tamura,D.
  TITLE     Xeroderma Pigmentosum
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301571
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC000093.2, U18300.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000256996.9/ ENSP00000256996.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U18300.1 and AA278953.1.
            On Nov 30, 2019 this sequence version replaced NM_000107.2.
            Summary: This gene encodes a protein that is necessary for the
            repair of ultraviolet light-damaged DNA. This protein is the
            smaller subunit of a heterodimeric protein complex that
            participates in nucleotide excision repair, and this complex
            mediates the ubiquitylation of histones H3 and H4, which
            facilitates the cellular response to DNA damage. This subunit
            appears to be required for DNA binding. Mutations in this gene
            cause xeroderma pigmentosum complementation group E, a recessive
            disease that is characterized by an increased sensitivity to UV
            light and a high predisposition for skin cancer development, in
            some cases accompanied by neurological abnormalities. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2014].
            Transcript Variant: This variant (WT) represents the longer
            transcript and encodes the longer isoform (WT).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1815
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..1815
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="damage specific DNA binding protein 2"
                     /db_xref="GeneID:1643"
                     /db_xref="HGNC:HGNC:2718"
                     /db_xref="MIM:600811"
     misc_feature    131..133
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="upstream in-frame stop codon"
     CDS             164..1447
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="isoform WT is encoded by transcript variant WT;
                     xeroderma pigmentosum group E protein; UV-damaged
                     DNA-binding protein 2; DDB p48 subunit; DNA damage-binding
                     protein 2; damage-specific DNA binding protein 2, 48kDa"
                     /codon_start=1
                     /product="DNA damage-binding protein 2 isoform WT"
                     /protein_id="NP_000098.1"
                     /db_xref="CCDS:CCDS7927.1"
                     /db_xref="GeneID:1643"
                     /db_xref="HGNC:HGNC:2718"
                     /db_xref="MIM:600811"
                     /translation="MAPKKRPETQKTSEIVLRPRNKRSRSPLELEPEAKKLCAKGSGPS
                     RRCDSDCLWVGLAGPQILPPCRSIVRTLHQHKLGRASWPSVQQGLQQSFLHTLDSYRIL
                     QKAAPFDRRATSLAWHPTHPSTVAVGSKGGDIMLWNFGIKDKPTFIKGIGAGGSITGLK
                     FNPLNTNQFYASSMEGTTRLQDFKGNILRVFASSDTINIWFCSLDVSASSRMVVTGDNV
                     GNVILLNMDGKELWNLRMHKKKVTHVALNPCCDWFLATASVDQTVKIWDLRQVRGKASF
                     LYSLPHRHPVNAACFSPDGARLLTTDQKSEIRVYSASQWDCPLGLIPHPHRHFQHLTPI
                     KAAWHPRYNLIVVGRYPDPNFKSCTPYELRTIDVFDGNSGKMMCQLYDPESSGISSLNE
                     FNPMGDTLASAMGYHILIWSQEEARTRK"
     misc_feature    164..253
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92466.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    233..235
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92466.1); phosphorylation site"
     misc_feature    239..241
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q92466.1);
                     phosphorylation site"
     misc_feature    266..268
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:32789493; propagated from
                     UniProtKB/Swiss-Prot (Q92466.1); acetylation site"
     misc_feature    365..400
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92466.1);
                     Region: Required for interaction with DDB1.
                     /evidence=ECO:0000269|PubMed:9632823"
     misc_feature    392..394
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:32789493; propagated from
                     UniProtKB/Swiss-Prot (Q92466.1); acetylation site"
     misc_feature    422..457
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92466.1);
                     Region: Required for interaction with DDB1.
                     /evidence=ECO:0000269|PubMed:9632823"
     misc_feature    509..616
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92466.1);
                     Region: WD 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00221,
                     ECO:0000269|PubMed:19109893"
     misc_feature    638..745
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92466.1);
                     Region: WD 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00221,
                     ECO:0000269|PubMed:19109893"
     misc_feature    770..877
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92466.1);
                     Region: WD 3.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00221,
                     ECO:0000269|PubMed:19109893"
     misc_feature    893..1024
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92466.1);
                     Region: WD 4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00221,
                     ECO:0000269|PubMed:19109893"
     misc_feature    929..985
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92466.1);
                     Region: DWD box. /evidence=ECO:0000269|PubMed:17079684"
     misc_feature    1031..1150
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92466.1);
                     Region: WD 5.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00221,
                     ECO:0000269|PubMed:19109893"
     misc_feature    1163..1171
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92466.1);
                     Region: Photolesion recognition"
     misc_feature    1190..1321
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92466.1);
                     Region: WD 6.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00221,
                     ECO:0000269|PubMed:19109893"
     misc_feature    1349..1423
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92466.1);
                     Region: WD 7.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00221,
                     ECO:0000269|PubMed:19109893"
     regulatory      1796..1801
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="hexamer: AATAAA"
     polyA_site      1815
                     /gene="DDB2"
                     /gene_synonym="DDBB; UV-DDB2; XPE"
                     /note="major polyA site"
ORIGIN
        1 ggtttgaaca agccctgggc atgtttggcg ggaagttggc ttagctcggc tacctgtggc
       61 cccgcagttt tgtagtcccc gccttgtttc tccccagagg cctctcaatc ctccctccat
      121 gatcttcgca tagagcacag taccccttca cacggaggac gcgatggctc ccaagaaacg
      181 cccagaaacc cagaagacct ccgagattgt attacgcccc aggaacaaga ggagcaggag
      241 tcccctggag ctggagcccg aggccaagaa gctctgtgcg aagggctccg gtcctagcag
      301 aagatgtgac tcagactgcc tctgggtggg gctggctggc ccacagatcc tgccaccatg
      361 ccgcagcatc gtcaggaccc tccaccagca taagctgggc agagcttcct ggccatctgt
      421 ccagcagggg ctccagcagt cctttttgca cactctggat tcttaccgga tattacaaaa
      481 ggctgccccc tttgacagga gggctacatc cttggcgtgg cacccaactc accccagcac
      541 cgtggctgtg ggttccaaag ggggagatat catgctctgg aattttggca tcaaggacaa
      601 acccaccttc atcaaaggga ttggagctgg agggagcatc actgggctga agtttaaccc
      661 tctcaatacc aaccagtttt acgcctcctc aatggaggga acaactaggc tgcaagactt
      721 taaaggcaac attctacgag tttttgccag ctcagacacc atcaacatct ggttttgtag
      781 cctggatgtg tctgctagta gccgaatggt ggtcacagga gacaacgtgg ggaacgtgat
      841 cctgctgaac atggacggca aagagctttg gaatctcaga atgcacaaaa agaaagtgac
      901 gcatgtggcc ctgaacccat gctgtgattg gttcctggcc acagcctccg tagatcaaac
      961 agtgaaaatt tgggacctgc gccaggttag agggaaagcc agcttcctct actcgctgcc
     1021 gcacaggcat cctgtcaacg cagcttgttt cagtcccgat ggagcccggc tcctgaccac
     1081 ggaccagaag agcgagatcc gagtttactc tgcttcccag tgggactgcc ccctgggcct
     1141 gatcccgcac cctcaccgtc acttccagca cctcacaccc atcaaggcag cctggcatcc
     1201 tcgctacaac ctcattgttg tgggccgata cccagatcct aatttcaaaa gttgtacccc
     1261 ttatgaattg aggacgatcg acgtgttcga tggaaactca gggaagatga tgtgtcagct
     1321 ctatgaccca gaatcttctg gcatcagttc gcttaatgaa ttcaatccca tgggggacac
     1381 gctggcctct gcaatgggtt accacattct catctggagc caggaggaag ccaggacacg
     1441 gaagtgagag acactaaaga aggtgtgggc cagacaaggc cttggagccc acacatggga
     1501 tcaagtcctg caagcagagg tggcgatttg ttaaagggcc aaaagtatcc aaggttaggg
     1561 ttggagcagg ggtgctggga cctggggcac tgtgggactg ggacactttt atgttaatgc
     1621 tctggacttg cctccagaga ctgctccaga gttggtgaca cagctgtccc aagggcccct
     1681 ctgtatctag cctggaacca aggttatctt ggaactaaat gacttttctc ctctcagtgg
     1741 gtggtagcag agggatcaag cagttatttg atttgtgctc acttttgata tggccaataa
     1801 aaccataccg actga
//
LOCUS       NM_000108               3537 bp    mRNA    linear   PRI 26-JUL-2023
DEFINITION  Homo sapiens dihydrolipoamide dehydrogenase (DLD), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000108
VERSION     NM_000108.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3537)
  AUTHORS   Szabo E and Ambrus A.
  TITLE     Lipoamide dehydrogenase (LADH) deficiency: medical perspectives of
            the structural and functional characterization of LADH and its
            pathogenic variants
  JOURNAL   Biol Futur 74 (1-2), 109-118 (2023)
   PUBMED   36842090
  REMARK    GeneRIF: Lipoamide dehydrogenase (LADH) deficiency: medical
            perspectives of the structural and functional characterization of
            LADH and its pathogenic variants. Review article
REFERENCE   2  (bases 1 to 3537)
  AUTHORS   Pinho SA, Costa CF, Deus CM, Pinho SLC, Miranda-Santos I, Afonso G,
            Bagshaw O, Stuart JA, Oliveira PJ and Cunha-Oliveira T.
  TITLE     Mitochondrial and metabolic remodelling in human skin fibroblasts in
            response to glucose availability
  JOURNAL   FEBS J 289 (17), 5198-5217 (2022)
   PUBMED   35213938
REFERENCE   3  (bases 1 to 3537)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 3537)
  AUTHORS   Babady NE, Pang YP, Elpeleg O and Isaya G.
  TITLE     Cryptic proteolytic activity of dihydrolipoamide dehydrogenase
  JOURNAL   Proc Natl Acad Sci U S A 104 (15), 6158-6163 (2007)
   PUBMED   17404228
  REMARK    GeneRIF: Certain DLD mutations can simultaneously induce the loss of
            a primary metabolic activity and the gain of a moonlighting
            proteolytic activity thus contributing to the metabolic derangement
            associated with DLD deficiency. GeneRIF: Human, mouse, and pig Dld
            has moonlighting function as a protease in addition to its canonical
            function as a a dehydrogenase.
REFERENCE   5  (bases 1 to 3537)
  AUTHORS   Ganetzky,R., McCormick,E.M. and Falk,M.J.
  TITLE     Primary Pyruvate Dehydrogenase Complex Deficiency Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   34138529
REFERENCE   6  (bases 1 to 3537)
  AUTHORS   Rahman,S. and Thorburn,D.
  TITLE     Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   26425749
REFERENCE   7  (bases 1 to 3537)
  AUTHORS   Quinonez,S.C. and Thoene,J.G.
  TITLE     Dihydrolipoamide Dehydrogenase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   25032271
REFERENCE   8  (bases 1 to 3537)
  AUTHORS   Johanning GL, Morris JI, Madhusudhan KT, Samols D and Patel MS.
  TITLE     Characterization of the transcriptional regulatory region of the
            human dihydrolipoamide dehydrogenase gene
  JOURNAL   Proc Natl Acad Sci U S A 89 (22), 10964-10968 (1992)
   PUBMED   1332063
REFERENCE   9  (bases 1 to 3537)
  AUTHORS   Kume A, Koyata H, Sakakibara T, Ishiguro Y, Kure S and Hiraga K.
  TITLE     The glycine cleavage system. Molecular cloning of the chicken and
            human glycine decarboxylase cDNAs and some characteristics involved
            in the deduced protein structures
  JOURNAL   J Biol Chem 266 (5), 3323-3329 (1991)
   PUBMED   1993704
REFERENCE   10  (bases 1 to 3537)
  AUTHORS   Scherer SW, Otulakowski G, Robinson BH and Tsui LC.
  TITLE     Localization of the human dihydrolipoamide dehydrogenase gene (DLD)
            to 7q31----q32
  JOURNAL   Cytogenet Cell Genet 56 (3-4), 176-177 (1991)
   PUBMED   2055113
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.72997.1,
            SRR1660805.174470.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000205402.10/ ENSP00000205402.3
            multifunctional gene product(s)    :: PMID: 17404228
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312346.1, BC018648.2 and
            AC005046.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000108.4.
            Summary: This gene encodes a member of the class-I pyridine
            nucleotide-disulfide oxidoreductase family. The encoded protein has
            been identified as a moonlighting protein based on its ability to
            perform mechanistically distinct functions. In homodimeric form,
            the encoded protein functions as a dehydrogenase and is found in
            several multi-enzyme complexes that regulate energy metabolism.
            However, as a monomer, this protein can function as a protease.
            Mutations in this gene have been identified in patients with
            E3-deficient maple syrup urine disease and lipoamide dehydrogenase
            deficiency. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jan 2014].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3537
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.1"
     gene            1..3537
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="dihydrolipoamide dehydrogenase"
                     /db_xref="GeneID:1738"
                     /db_xref="HGNC:HGNC:2898"
                     /db_xref="MIM:238331"
     misc_feature    33..35
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="upstream in-frame stop codon"
     CDS             69..1598
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /EC_number="1.8.1.4"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; E3 component of pyruvate dehydrogenase complex,
                     2-oxo-glutarate complex, branched chain keto acid
                     dehydrogenase complex; dihydrolipoyl dehydrogenase,
                     mitochondrial; glycine cleavage system protein L; lipoamide
                     reductase; lipoamide dehydrogenase; lipoyl dehydrogenase;
                     diaphorase; glycine cleavage system L protein; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="dihydrolipoyl dehydrogenase, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_000099.2"
                     /db_xref="CCDS:CCDS5749.1"
                     /db_xref="GeneID:1738"
                     /db_xref="HGNC:HGNC:2898"
                     /db_xref="MIM:238331"
                     /translation="MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVT
                     VIGSGPGGYVAAIKAAQLGFKTVCIEKNETLGGTCLNVGCIPSKALLNNSHYYHMAHGK
                     DFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVT
                     ATKADGGTQVIDTKNILIATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAG
                     VIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGA
                     TKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVN
                     TRFQTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEV
                     AWVGKSEEQLKEEGIEYKVGKFPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGP
                     GAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANLAASFGKSINF"
     transit_peptide 69..173
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="Mitochondrion.
                     /evidence=ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P09622.2)"
     mat_peptide     174..1595
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /product="Dihydrolipoyl dehydrogenase, mitochondrial.
                     /id=PRO_0000030295"
                     /note="propagated from UniProtKB/Swiss-Prot (P09622.2)"
     misc_feature    264..266
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:O08749; propagated from
                     UniProtKB/Swiss-Prot (P09622.2); acetylation site"
     misc_feature    378..380
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:O08749; propagated from
                     UniProtKB/Swiss-Prot (P09622.2); acetylation site"
     misc_feature    432..434
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:O08749; propagated from
                     UniProtKB/Swiss-Prot (P09622.2); acetylation site"
     misc_feature    462..464
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:O08749; propagated from
                     UniProtKB/Swiss-Prot (P09622.2); acetylation site"
     misc_feature    495..497
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P09622.2); acetylation site"
     misc_feature    921..923
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O08749; propagated from
                     UniProtKB/Swiss-Prot (P09622.2); phosphorylation site"
     misc_feature    957..959
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6P6R2; propagated from
                     UniProtKB/Swiss-Prot (P09622.2); phosphorylation site"
     misc_feature    1104..1106
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O08749; propagated from
                     UniProtKB/Swiss-Prot (P09622.2); acetylation site"
     misc_feature    1296..1298
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P09622.2); acetylation site"
     misc_feature    1317..1319
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P09622.2); acetylation site"
     misc_feature    1326..1328
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:O08749; propagated from
                     UniProtKB/Swiss-Prot (P09622.2); acetylation site"
     misc_feature    1410..1412
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="Important for interaction with PDHX and activity of
                     multienzyme pyruvate dehydrogenase complex.
                     /evidence=ECO:0000269|PubMed:20385101; propagated from
                     UniProtKB/Swiss-Prot (P09622.2); other site"
     misc_feature    1485..1487
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="Important for interaction with PDHX and activity of
                     multienzyme pyruvate dehydrogenase complex.
                     /evidence=ECO:0000269|PubMed:20385101; propagated from
                     UniProtKB/Swiss-Prot (P09622.2); other site"
     misc_feature    1572..1574
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P09622.2); phosphorylation site"
     misc_feature    1581..1583
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:O08749; propagated from
                     UniProtKB/Swiss-Prot (P09622.2); acetylation site"
     regulatory      2060..2065
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="hexamer: TATAAA"
     polyA_site      2084
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="major polyA site"
     regulatory      2284..2289
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="hexamer: AATAAA"
     polyA_site      2304
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="major polyA site"
     regulatory      3500..3505
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="hexamer: AATAAA"
     regulatory      3514..3519
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
                     /note="hexamer: AATAAA"
     polyA_site      3523
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
     polyA_site      3537
                     /gene="DLD"
                     /gene_synonym="DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3"
ORIGIN
        1 cttggcggag cggcggaggc gcccagcgga ggtgaaagta ttggcggaaa ggaaaataca
       61 gcggaaaaat gcagagctgg agtcgtgtgt actgctcctt ggccaagaga ggccatttca
      121 atcgaatatc tcatggccta cagggacttt ctgcagtgcc tctgagaact tacgcagatc
      181 agccgattga tgctgatgta acagttatag gttctggtcc tggaggatat gttgctgcta
      241 ttaaagctgc ccagttaggc ttcaagacag tctgcattga gaaaaatgaa acacttggtg
      301 gaacatgctt gaatgttggt tgtattcctt ctaaggcttt attgaacaac tctcattatt
      361 accatatggc ccatggaaaa gattttgcat ctagaggaat tgaaatgtcc gaagttcgct
      421 tgaatttaga caagatgatg gagcagaaga gtactgcagt aaaagcttta acaggtggaa
      481 ttgcccactt attcaaacag aataaggttg ttcatgtcaa tggatatgga aagataactg
      541 gcaaaaatca agtcactgct acgaaagctg atggcggcac tcaggttatt gatacaaaga
      601 acattcttat agccacgggt tcagaagtta ctccttttcc tggaatcacg atagatgaag
      661 atacaatagt gtcatctaca ggtgctttat ctttaaaaaa agttccagaa aagatggttg
      721 ttattggtgc aggagtaata ggtgtagaat tgggttcagt ttggcaaaga cttggtgcag
      781 atgtgacagc agttgaattt ttaggtcatg taggtggagt tggaattgat atggagatat
      841 ctaaaaactt tcaacgcatc cttcaaaaac aggggtttaa atttaaattg aatacaaagg
      901 ttactggtgc taccaagaag tcagatggaa aaattgatgt ttctattgaa gctgcttctg
      961 gtggtaaagc tgaagttatc acttgtgatg tactcttggt ttgcattggc cgacgaccct
     1021 ttactaagaa tttgggacta gaagagctgg gaattgaact agatcccaga ggtagaattc
     1081 cagtcaatac cagatttcaa actaaaattc caaatatcta tgccattggt gatgtagttg
     1141 ctggtccaat gctggctcac aaagcagagg atgaaggcat tatctgtgtt gaaggaatgg
     1201 ctggtggtgc tgtgcacatt gactacaatt gtgtgccatc agtgatttac acacaccctg
     1261 aagttgcttg ggttggcaaa tcagaagagc agttgaaaga agagggtatt gagtacaaag
     1321 ttgggaaatt cccatttgct gctaacagca gagctaagac aaatgctgac acagatggca
     1381 tggtgaagat ccttgggcag aaatcgacag acagagtact gggagcacat attcttggac
     1441 caggtgctgg agaaatggta aatgaagctg ctcttgcttt ggaatatgga gcatcctgtg
     1501 aagatatagc tagagtctgt catgcacatc cgaccttatc agaagctttt agagaagcaa
     1561 atcttgctgc gtcatttggc aaatcaatca acttttgaat tagaagatta tatatatttt
     1621 tttctgaaat ttcctgggag cttttgtaga agtcacattc ctgaacagga tattctcaca
     1681 gctccaagaa tttctaggac tgaattatga aacttttgga aggtatttaa taggtttgga
     1741 caaaatggaa tactcttata tctatatttt acataaattt agtattttgt ttcagtgcac
     1801 taatgtgtaa gacaaaaagc tacttattgt agcatcctgg aatatctccg tcaactcata
     1861 ttttcatgct gttcatgaaa gattcaatgc ccctgaattt aaatagcttt tttctctgat
     1921 acagaaaagt tgaattttac atggctggag ctagaatttg atatgtgaac agttgtgttt
     1981 gaagcacagt gatcaagtta tttttaattt ggttttcaca ttggaaacaa gtcagtcatt
     2041 cagatatgat tcaaatgtct ataaaccgaa ctgatgtaag taaacggtct ctcacttgtt
     2101 ttatttaacc tctaaattct ttcattttag gggtagcatt tgtgttgaag aggttttaaa
     2161 gcttccattg ttgtctgcaa ctctgaaggg taattatata gttacccaaa ttaagagagt
     2221 ctatttacgg aactcaaata cgtgggcatt caaatgtatt acagtgggga atgaagatac
     2281 tgaaataaac gtcttaaata ttcatttact ggttatcatg agtacgtgtt gagatggtca
     2341 tagttttttt tatgactact tctagtgtat attctaattt cttttctagg cctgaatgta
     2401 tctttatttt catgttatag gacaatatta aggcatttta aaggtcatca tcctttcatc
     2461 tattttagat acacctacta aatgtttaat atatactttt ggagaagtac aacataaggg
     2521 agtctttaat ctgtgttttc cttggctggg ttaatgactg tttatttaaa gagtgttgta
     2581 aaattggatg tgtggtgttt aaaatggcca tgtcctgagg aaacttaagt aacaaagtac
     2641 taaatgctaa gtaggctttt gcatattgta actaaattta agaataattc agattaagta
     2701 gttctgaaat ttggtataga tagcatagat tgtctcatgc tcatgagtga cataatgacc
     2761 ctggattctg ttacatactt ctaaagaaaa ttgattgttg tcttaggagg cagttaactt
     2821 ggctgaacac caactccaca ctctgtcttg tttgtaggtg gcagcagctg aaatctcttc
     2881 tcagttgttt tagctttagc tatgctgctg gaagtctttc ccatgcaagt gtgtagttca
     2941 ggggtcaacc agagtttggg cagaaggaag tctgcccctt ctgtgcctcc tgttttttgg
     3001 gggtttcccc tttatgttcc agctgttgtg gttgccccat attctgcctt ctgatcctta
     3061 accaataaaa cttggctttt gtttccccct caagtgagaa cccgttaaaa atgagacatt
     3121 gagccagtgc tgttcacttt ttaagtgcca acttccctct actttccact tgtttatagt
     3181 tgtttccagt gcctttagtt ttttctaaaa tatatttgtt cagagtttgc agttgctatc
     3241 agcaggaggg ttggtctgat atctgtgtgc tactttgcca ttattggaag tgaactctgc
     3301 atctttttaa aaatttgaaa tcccggtatc atgtgaagtg ctgtttatgt aaatctcaac
     3361 atatccctta ctcagggaaa aaaaagtttt tagttaggga atagtgaaat ataatttaat
     3421 atggaattct agctgtagag ttaaatccat ctttaagtgt ttacattcag tatgagaatg
     3481 caaatttatc tgtatgggga ataaagtcct aggaataaaa caagttttaa gtgttca
//
LOCUS       NM_000110               4423 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript
            variant 1, mRNA.
ACCESSION   NM_000110
VERSION     NM_000110.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4423)
  AUTHORS   Medwid S, Wigle TJ, Ross C and Kim RB.
  TITLE     Genetic Variation in miR-27a Is Associated with
            Fluoropyrimidine-Associated Toxicity in Patients with
            Dihydropyrimidine Dehydrogenase Variants after Genotype-Guided Dose
            Reduction
  JOURNAL   Int J Mol Sci 24 (17), 13284 (2023)
   PUBMED   37686089
  REMARK    GeneRIF: Genetic Variation in miR-27a Is Associated with
            Fluoropyrimidine-Associated Toxicity in Patients with
            Dihydropyrimidine Dehydrogenase Variants after Genotype-Guided Dose
            Reduction. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4423)
  AUTHORS   Royer B, Launay M, Ciccolini J, Derain L, Parant F, Thomas F and
            Guitton J.
  TITLE     Impact of renal impairment on dihydropyrimidine dehydrogenase (DPD)
            phenotyping
  JOURNAL   ESMO Open 8 (3), 101577 (2023)
   PUBMED   37267808
  REMARK    GeneRIF: Impact of renal impairment on dihydropyrimidine
            dehydrogenase (DPD) phenotyping.
REFERENCE   3  (bases 1 to 4423)
  AUTHORS   Miarons M, Manzaneque Gordon A, Riera P and Gutierrez Nicolas F.
  CONSRTM   RedDPYD Research Group with the Spanish Society of Hospital Pharmacy
            (SEFH)
  TITLE     Allelic Frequency of DPYD Genetic Variants in Patients With Cancer
            in Spain: The PhotoDPYD Study
  JOURNAL   Oncologist 28 (5), e304-e308 (2023)
   PUBMED   37014829
  REMARK    GeneRIF: Allelic Frequency of DPYD Genetic Variants in Patients With
            Cancer in Spain: The PhotoDPYD Study.
REFERENCE   4  (bases 1 to 4423)
  AUTHORS   Doornhof KR, van der Linden PD, Boeke GM, Willemsen AECAB and
            Daskapan A.
  TITLE     Dihydropyrimidine dehydrogenase phenotype in peripheral blood
            mononuclear cells is related to adverse events of
            fluoropyrimidine-therapy
  JOURNAL   Eur J Clin Pharmacol 79 (4), 493-501 (2023)
   PUBMED   36757428
  REMARK    GeneRIF: Dihydropyrimidine dehydrogenase phenotype in peripheral
            blood mononuclear cells is related to adverse events of
            fluoropyrimidine-therapy.
REFERENCE   5  (bases 1 to 4423)
  AUTHORS   Shestopal SA, Johnson MR and Diasio RB.
  TITLE     Molecular cloning and characterization of the human
            dihydropyrimidine dehydrogenase promoter
  JOURNAL   Biochim Biophys Acta 1494 (1-2), 162-169 (2000)
   PUBMED   11072080
REFERENCE   6  (bases 1 to 4423)
  AUTHORS   Johnson MR, Wang K, Tillmanns S, Albin N and Diasio RB.
  TITLE     Structural organization of the human dihydropyrimidine dehydrogenase
            gene
  JOURNAL   Cancer Res 57 (9), 1660-1663 (1997)
   PUBMED   9135003
REFERENCE   7  (bases 1 to 4423)
  AUTHORS   Lu ZH, Zhang R and Diasio RB.
  TITLE     Purification and characterization of dihydropyrimidine dehydrogenase
            from human liver
  JOURNAL   J Biol Chem 267 (24), 17102-17109 (1992)
   PUBMED   1512248
REFERENCE   8  (bases 1 to 4423)
  AUTHORS   Porter DJ, Chestnut WG, Merrill BM and Spector T.
  TITLE     Mechanism-based inactivation of dihydropyrimidine dehydrogenase by
            5-ethynyluracil
  JOURNAL   J Biol Chem 267 (8), 5236-5242 (1992)
   PUBMED   1544906
REFERENCE   9  (bases 1 to 4423)
  AUTHORS   Tuchman M, Roemeling RV, Hrushesky WA, Sothern RB and O'Dea RF.
  TITLE     Dihydropyrimidine dehydrogenase activity in human blood mononuclear
            cells
  JOURNAL   Enzyme 42 (1), 15-24 (1989)
   PUBMED   2528450
REFERENCE   10  (bases 1 to 4423)
  AUTHORS   Diasio RB, Beavers TL and Carpenter JT.
  TITLE     Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical
            basis for familial pyrimidinemia and severe 5-fluorouracil-induced
            toxicity
  JOURNAL   J Clin Invest 81 (1), 47-51 (1988)
   PUBMED   3335642
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U20938.1, AK291217.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370192.8/ ENSP00000359211.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA721123.1, U20938.1 and
            AI124948.1.
            On Aug 31, 2019 this sequence version replaced NM_000110.3.
            Summary: The protein encoded by this gene is a pyrimidine catabolic
            enzyme and the initial and rate-limiting factor in the pathway of
            uracil and thymidine catabolism. Mutations in this gene result in
            dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine
            metabolism associated with thymine-uraciluria and an increased risk
            of toxicity in cancer patients receiving 5-fluorouracil
            chemotherapy. Two transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, May 2009].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4423
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.3"
     gene            1..4423
                     /gene="DPYD"
                     /gene_synonym="DHP; DHPDHASE; DPD; DYPD"
                     /note="dihydropyrimidine dehydrogenase"
                     /db_xref="GeneID:1806"
                     /db_xref="HGNC:HGNC:3012"
                     /db_xref="MIM:612779"
     misc_feature    12
                     /gene="DPYD"
                     /gene_synonym="DHP; DHPDHASE; DPD; DYPD"
                     /note="alternative transcription initiation site"
     CDS             113..3190
                     /gene="DPYD"
                     /gene_synonym="DHP; DHPDHASE; DPD; DYPD"
                     /EC_number="1.3.1.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dihydrouracil dehydrogenase; dihydrothymine dehydrogenase"
                     /codon_start=1
                     /product="dihydropyrimidine dehydrogenase [NADP(+)] isoform
                     1"
                     /protein_id="NP_000101.2"
                     /db_xref="CCDS:CCDS30777.1"
                     /db_xref="GeneID:1806"
                     /db_xref="HGNC:HGNC:3012"
                     /db_xref="MIM:612779"
                     /translation="MAPVLSKDSADIESILALNPRTQTHATLCSTSAKKLDKKHWKRNP
                     DKNCFNCEKLENNFDDIKHTTLGERGALREAMRCLKCADAPCQKSCPTNLDIKSFITSI
                     ANKNYYGAAKMIFSDNPLGLTCGMVCPTSDLCVGGCNLYATEEGPINIGGLQQFATEVF
                     KAMSIPQIRNPSLPPPEKMSEAYSAKIALFGAGPASISCASFLARLGYSDITIFEKQEY
                     VGGLSTSEIPQFRLPYDVVNFEIELMKDLGVKIICGKSLSVNEMTLSTLKEKGYKAAFI
                     GIGLPEPNKDAIFQGLTQDQGFYTSKDFLPLVAKGSKAGMCACHSPLPSIRGVVIVLGA
                     GDTAFDCATSALRCGARRVFIVFRKGFVNIRAVPEEMELAKEEKCEFLPFLSPRKVIVK
                     GGRIVAMQFVRTEQDETGKWNEDEDQMVHLKADVVISAFGSVLSDPKVKEALSPIKFNR
                     WGLPEVDPETMQTSEAWVFAGGDVVGLANTTVESVNDGKQASWYIHKYVQSQYGASVSA
                     KPELPLFYTPIDLVDISVEMAGLKFINPFGLASATPATSTSMIRRAFEAGWGFALTKTF
                     SLDKDIVTNVSPRIIRGTTSGPMYGPGQSSFLNIELISEKTAAYWCQSVTELKADFPDN
                     IVIASIMCSYNKNDWTELAKKSEDSGADALELNLSCPHGMGERGMGLACGQDPELVRNI
                     CRWVRQAVQIPFFAKLTPNVTDIVSIARAAKEGGANGVTATNTVSGLMGLKSDGTPWPA
                     VGIAKRTTYGGVSGTAIRPIALRAVTSIARALPGFPILATGGIDSAESGLQFLHSGASV
                     LQVCSAIQNQDFTVIEDYCTGLKALLYLKSIEELQDWDGQSPATVSHQKGKPVPRIAEL
                     MDKKLPSFGPYLEQRKKIIAENKIRLKEQNVAFSPLKRNCFIPKRPIPTIKDVIGKALQ
                     YLGTFGELSNVEQVVAMIDEEMCINCGKCYMTCNDSGYQAIQFDPETHLPTITDTCTGC
                     TLCLSVCPIVDCIKMVSRTTPYEPKRGVPLSVNPVC"
     misc_feature    1262..1264
                     /gene="DPYD"
                     /gene_synonym="DHP; DHPDHASE; DPD; DYPD"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q12882.2); acetylation site"
     misc_feature    2825..2827
                     /gene="DPYD"
                     /gene_synonym="DHP; DHPDHASE; DPD; DYPD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q12882.2); phosphorylation site"
     regulatory      4398..4403
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPYD"
                     /gene_synonym="DHP; DHPDHASE; DPD; DYPD"
                     /note="hexamer: AATAAA"
     polyA_site      4423
                     /gene="DPYD"
                     /gene_synonym="DHP; DHPDHASE; DPD; DYPD"
                     /note="major polyA site"
ORIGIN
        1 agtctgcctg ttttcgactc gcgctccggc tgctgtcact tggctctctg gctggagctt
       61 gaggacgcaa ggagggtttg tcactggcag actcgagact gtaggcactg ccatggcccc
      121 tgtgctcagt aaggactcgg cggacatcga gagtatcctg gctttaaatc ctcgaacaca
      181 aactcatgca actctgtgtt ccacttcggc caagaaatta gacaagaaac attggaaaag
      241 aaatcctgat aagaactgct ttaattgtga gaagctggag aataattttg atgacatcaa
      301 gcacacgact cttggtgagc gaggagctct ccgagaagca atgagatgcc tgaaatgtgc
      361 agatgccccg tgtcagaaga gctgtccaac taatcttgat attaaatcat tcatcacaag
      421 tattgcaaac aagaactatt atggagctgc taagatgata ttttctgaca acccacttgg
      481 tctgacttgt ggaatggtat gtccaacctc tgatctttgt gtaggtggat gcaatttata
      541 tgccactgaa gagggaccca ttaatattgg tggattgcag caatttgcta ctgaggtatt
      601 caaagcaatg agtatcccac agatcagaaa tccttcgctg cctcccccag aaaaaatgtc
      661 tgaagcctat tctgcaaaga ttgctctttt tggtgctggg cctgcaagta taagttgtgc
      721 ttcctttttg gctcgattgg ggtactctga catcactata tttgaaaaac aagaatatgt
      781 tggtggttta agtacttctg aaattcctca gttccggctg ccgtatgatg tagtgaattt
      841 tgagattgag ctaatgaagg accttggtgt aaagataatt tgcggtaaaa gcctttcagt
      901 gaatgaaatg actcttagca ctttgaaaga aaaaggctac aaagctgctt tcattggaat
      961 aggtttgcca gaacccaata aagatgccat cttccaaggc ctgacgcagg accaggggtt
     1021 ttatacatcc aaagactttt tgccacttgt agccaaaggc agtaaagcag gaatgtgcgc
     1081 ctgtcactct ccattgccat cgatacgggg agtcgtgatt gtacttggag ctggagacac
     1141 tgcctttgac tgtgcaacat ctgctctacg ttgtggagct cgccgtgtgt tcatcgtctt
     1201 cagaaaaggc tttgttaata taagagctgt ccctgaggag atggaacttg ctaaggaaga
     1261 aaagtgtgaa tttctgccat tcctgtcccc acggaaggtt atagtaaaag gtgggagaat
     1321 tgttgctatg cagtttgttc ggacagagca agatgaaact ggaaaatgga atgaagatga
     1381 agatcagatg gtccatctga aagccgatgt ggtcatcagt gcctttggtt cagttctgag
     1441 tgatcctaaa gtaaaagaag ccttgagccc tataaaattt aacagatggg gtctcccaga
     1501 agtagatcca gaaactatgc aaactagtga agcatgggta tttgcaggtg gtgatgtcgt
     1561 tggtttggct aacactacag tggaatcggt gaatgatgga aagcaagctt cttggtacat
     1621 tcacaaatac gtacagtcac aatatggagc ttccgtttct gccaagcctg aactacccct
     1681 cttttacact cctattgatc tggtggacat tagtgtagaa atggccggat tgaagtttat
     1741 aaatcctttt ggtcttgcta gcgcaactcc agccaccagc acatcaatga ttcgaagagc
     1801 ttttgaagct ggatggggtt ttgccctcac caaaactttc tctcttgata aggacattgt
     1861 gacaaatgtt tcccccagaa tcatccgggg aaccacctct ggccccatgt atggccctgg
     1921 acaaagctcc tttctgaata ttgagctcat cagtgagaaa acggctgcat attggtgtca
     1981 aagtgtcact gaactaaagg ctgactttcc agacaacatt gtgattgcta gcattatgtg
     2041 cagttacaat aaaaatgact ggacggaact tgccaagaag tctgaggatt ctggagcaga
     2101 tgccctggag ttaaatttat catgtccaca tggcatggga gaaagaggaa tgggcctggc
     2161 ctgtgggcag gatccagagc tggtgcggaa catctgccgc tgggttaggc aagctgttca
     2221 gattcctttt tttgccaagc tgaccccaaa tgtcactgat attgtgagca tcgcaagagc
     2281 tgcaaaggaa ggtggtgcca atggcgttac agccaccaac actgtctcag gtctgatggg
     2341 attaaaatct gatggcacac cttggccagc agtggggatt gcaaagcgaa ctacatatgg
     2401 aggagtgtct gggacagcaa tcagacctat tgctttgaga gctgtgacct ccattgctcg
     2461 tgctctgcct ggatttccca ttttggctac tggtggaatt gactctgctg aaagtggtct
     2521 tcagtttctc catagtggtg cttccgtcct ccaggtatgc agtgccattc agaatcagga
     2581 tttcactgtg atcgaagact actgcactgg cctcaaagcc ctgctttatc tgaaaagcat
     2641 tgaagaacta caagactggg atggacagag tccagctact gtgagtcacc agaaagggaa
     2701 accagttcca cgtatagctg aactcatgga caagaaactg ccaagttttg gaccttatct
     2761 ggaacagcgc aagaaaatca tagcagaaaa caagattaga ctgaaagaac aaaatgtagc
     2821 tttttcacca cttaagagaa actgttttat ccccaaaagg cctattccta ccatcaagga
     2881 tgtaatagga aaagcactgc agtaccttgg aacatttggt gaattgagca acgtagagca
     2941 agttgtggct atgattgatg aagaaatgtg tatcaactgt ggtaaatgct acatgacctg
     3001 taatgattct ggctaccagg ctatacagtt tgatccagaa acccacctgc ccaccataac
     3061 cgacacttgt acaggctgta ctctgtgtct cagtgtttgc cctattgtcg actgcatcaa
     3121 aatggtttcc aggacaacac cttatgaacc aaagagaggc gtacccttat ctgtgaatcc
     3181 ggtgtgttaa ggtgatttgt gaaacagttg ctgtgaactt tcatgtcacc tacatatgct
     3241 gatcttttaa aatcatgatc cttgtgttca gctctttcca aattaaaaca aatatacatt
     3301 ttctaaataa aaatatgtaa tttcaaaata catttgtaag tgtaaaaaat gtctcatgtc
     3361 aatgaccatt caattagtgg tcataaaata gaataattct tttctgagga tagtagttaa
     3421 ataactgtgt ggcagttaat tggatgttca ctgccagttg tcttatgtga aaaattaact
     3481 tttttgtggc aattagtgtg acagtttcca aattgcccta tgctgtgctc catatttgat
     3541 ttctaattgt aagtgaaatt aagcattttg aaacaaagta ctctttaaca tacaagaaaa
     3601 tgtatccaag gaaacatttt atcattaaaa attaccttta attttaatgc tgtttctaag
     3661 aaaatgtagt tagctccata aagtacaaat gaagaaagtc aaaaaattat ttgctatggc
     3721 aggataagaa agcctaaaat tgagtttgta gaactttatt aagtaaaatc cccttcgctg
     3781 aaattgctta tttttggtgt tggatagagg atagggagaa tatttactaa ctaaatacca
     3841 ttcactactc atgcgtgaga tgggtgtaca aactcatcct cttttaatgg catttctctt
     3901 taaactatgt tcctaacaaa atgagatgat aggatagatc ctggttacca ctcttttgct
     3961 gtgcacatac gggctctgac tggttttaat agtcaccttc atgattatag caactaatgt
     4021 ttgaacaaag ctcaaagtat gcaatgcttc attattcaag aatgaaaaat ataatgttga
     4081 taatatatat taagtgtgcc aaatcagttt gactactctc tgttttagtg tttatgttta
     4141 aaagaaatat attttttgtt attattagat aatatttttg tatttctcta ttttcataat
     4201 cagtaaatag tgtcatataa actcatttat ctcctcttca tggcatcttc aatatgaatc
     4261 tataagtagt aaatcagaaa gtaacaatct atggcttatt tctatgacaa attcaagagc
     4321 tagaaaaata aaatgtttca ttatgcactt ttagaaatgc atatttgcca caaaacctgt
     4381 attactgaat aatatcaaat aaaatatcat aaagcatttt aaa
//
LOCUS       NM_000111               2882 bp    mRNA    linear   PRI 11-JUN-2023
DEFINITION  Homo sapiens solute carrier family 26 member 3 (SLC26A3), mRNA.
ACCESSION   NM_000111
VERSION     NM_000111.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2882)
  AUTHORS   Sarker R, Lin R, Singh V, Donowitz M and Tse CM.
  TITLE     SLC26A3 (DRA) is stimulated in a synergistic, intracellular
            Ca2+-dependent manner by cAMP and ATP in intestinal epithelial cells
  JOURNAL   Am J Physiol Cell Physiol 324 (6), C1263-C1273 (2023)
   PUBMED   37154494
  REMARK    GeneRIF: SLC26A3 (DRA) is stimulated in a synergistic, intracellular
            Ca[2+]-dependent manner by cAMP and ATP in intestinal epithelial
            cells.
REFERENCE   2  (bases 1 to 2882)
  AUTHORS   Krawczyk M, Niewiadomska O, Jankowska I, Jankowski K, Swiderska J,
            Lebensztejn D, Wiecek S, Gozdowska J, Kulaga Z, Weber SN, Lammert F
            and Socha P.
  TITLE     The rs12532734 Polymorphism Near the Solute Carrier 26A3 Gene Locus
            Is Associated With Gallstone Disease in Children
  JOURNAL   J Pediatr Gastroenterol Nutr 75 (6), 692-694 (2022)
   PUBMED   36084219
  REMARK    GeneRIF: The rs12532734 Polymorphism Near the Solute Carrier 26A3
            Gene Locus Is Associated With Gallstone Disease in Children.
REFERENCE   3  (bases 1 to 2882)
  AUTHORS   Yu Q.
  TITLE     Slc26a3 (DRA) in the Gut: Expression, Function, Regulation, Role in
            Infectious Diarrhea and Inflammatory Bowel Disease
  JOURNAL   Inflamm Bowel Dis 27 (4), 575-584 (2021)
   PUBMED   32989468
  REMARK    GeneRIF: Slc26a3 (DRA) in the Gut: Expression, Function, Regulation,
            Role in Infectious Diarrhea and Inflammatory Bowel Disease. Review
            article
REFERENCE   4  (bases 1 to 2882)
  AUTHORS   Kumar A, Priyamvada S, Ge Y, Jayawardena D, Singhal M, Anbazhagan
            AN, Chatterjee I, Dayal A, Patel M, Zadeh K, Saksena S, Alrefai WA,
            Gill RK, Zadeh M, Zhao N, Mohamadzadeh M and Dudeja PK.
  TITLE     A Novel Role of SLC26A3 in the Maintenance of Intestinal Epithelial
            Barrier Integrity
  JOURNAL   Gastroenterology 160 (4), 1240-1255 (2021)
   PUBMED   33189700
  REMARK    GeneRIF: A Novel Role of SLC26A3 in the Maintenance of Intestinal
            Epithelial Barrier Integrity.
REFERENCE   5  (bases 1 to 2882)
  AUTHORS   Hayashi H, Nagai H, Ohba KI, Soleimani M and Suzuki Y.
  TITLE     Segmental differences in Slc26a3-dependent Cl- absorption and HCO3-
            secretion in the mouse large intestine in vitro in Ussing chambers
  JOURNAL   J Physiol Sci 71 (1), 5 (2021)
   PUBMED   33514305
  REMARK    GeneRIF: Segmental differences in Slc26a3-dependent Cl(-) absorption
            and HCO3(-) secretion in the mouse large intestine in vitro in
            Ussing chambers. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2882)
  AUTHORS   Byeon MK, Frankel A, Papas TS, Henderson KW and Schweinfest CW.
  TITLE     Human DRA functions as a sulfate transporter in Sf9 insect cells
  JOURNAL   Protein Expr Purif 12 (1), 67-74 (1998)
   PUBMED   9473459
REFERENCE   7  (bases 1 to 2882)
  AUTHORS   Hoglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U,
            Karjalainen-Lindsberg ML, Airola K, Holmberg C, de la Chapelle A and
            Kere J.
  TITLE     Mutations of the Down-regulated in adenoma (DRA) gene cause
            congenital chloride diarrhoea
  JOURNAL   Nat Genet 14 (3), 316-319 (1996)
   PUBMED   8896562
REFERENCE   8  (bases 1 to 2882)
  AUTHORS   Taguchi T, Testa JR, Papas TS and Schweinfest C.
  TITLE     Localization of a candidate colon tumor-suppressor gene (DRA) to
            7q22-q31.1 by fluorescence in situ hybridization
  JOURNAL   Genomics 20 (1), 146-147 (1994)
   PUBMED   8020951
REFERENCE   9  (bases 1 to 2882)
  AUTHORS   Sandal NN and Marcker KA.
  TITLE     Similarities between a soybean nodulin, Neurospora crassa sulphate
            permease II and a putative human tumour suppressor
  JOURNAL   Trends Biochem Sci 19 (1), 19 (1994)
   PUBMED   8140616
  REMARK    Review article
REFERENCE   10  (bases 1 to 2882)
  AUTHORS   Schweinfest CW, Henderson KW, Suster S, Kondoh N and Papas TS.
  TITLE     Identification of a colon mucosa gene that is down-regulated in
            colon adenomas and adenocarcinomas
  JOURNAL   Proc Natl Acad Sci U S A 90 (9), 4166-4170 (1993)
   PUBMED   7683425
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L02785.1, SRR11853560.26530.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000340010.10/ ENSP00000345873.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP262081.1, BC025671.1 and
            AC002467.1.
            On Aug 31, 2019 this sequence version replaced NM_000111.2.
            Summary: The protein encoded by this gene is a transmembrane
            glycoprotein that transports chloride ions across the cell membrane
            in exchange for bicarbonate ions. It is localized to the mucosa of
            the lower intestinal tract, particularly to the apical membrane of
            columnar epithelium and some goblet cells. The protein is essential
            for intestinal chloride absorption, and mutations in this gene have
            been associated with congenital chloride diarrhea. [provided by
            RefSeq, Oct 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2882
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.3-q31.1"
     gene            1..2882
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="solute carrier family 26 member 3"
                     /db_xref="GeneID:1811"
                     /db_xref="HGNC:HGNC:3018"
                     /db_xref="MIM:126650"
     misc_feature    1
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="major transcription initiation site"
     misc_feature    121..123
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="upstream in-frame stop codon"
     CDS             202..2496
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="down-regulated in adenoma protein; solute carrier
                     family 26 (anion exchanger), member 3"
                     /codon_start=1
                     /product="chloride anion exchanger"
                     /protein_id="NP_000102.1"
                     /db_xref="CCDS:CCDS5748.1"
                     /db_xref="GeneID:1811"
                     /db_xref="HGNC:HGNC:3018"
                     /db_xref="MIM:126650"
                     /translation="MIEPFGNQYIVARPVYSTNAFEENHKKTGRHHKTFLDHLKVCCSC
                     SPQKAKRIVLSLFPIASWLPAYRLKEWLLSDIVSGISTGIVAVLQGLAFALLVDIPPVY
                     GLYASFFPAIIYLFFGTSRHISVGPFPILSMMVGLAVSGAVSKAVPDRNATTLGLPNNS
                     NNSSLLDDERVRVAAAASVTVLSGIIQLAFGILRIGFVVIYLSESLISGFTTAAAVHVL
                     VSQLKFIFQLTVPSHTDPVSIFKVLYSVFSQIEKTNIADLVTALIVLLVVSIVKEINQR
                     FKDKLPVPIPIEFIMTVIAAGVSYGCDFKNRFKVAVVGDMNPGFQPPITPDVETFQNTV
                     GDCFGIAMVAFAVAFSVASVYSLKYDYPLDGNQELIALGLGNIVCGVFRGFAGSTALSR
                     SAVQESTGGKTQIAGLIGAIIVLIVVLAIGFLLAPLQKSVLAALALGNLKGMLMQFAEI
                     GRLWRKDKYDCLIWIMTFIFTIVLGLGLGLAASVAFQLLTIVFRTQFPKCSTLANIGRT
                     NIYKNKKDYYDMYEPEGVKIFRCPSPIYFANIGFFRRKLIDAVGFSPLRILRKRNKALR
                     KIRKLQKQGLLQVTPKGFICTVDTIKDSDEELDNNQIEVLDQPINTTDLPFHIDWNDDL
                     PLNIEVPKISLHSLILDFSAVSFLDVSSVRGLKSILQEFIRIKVDVYIVGTDDDFIEKL
                     NRYEFFDGEVKSSIFFLTIHDAVLHILMKKDYSTSKFNPSQEKDGKIDFTINTNGGLRN
                     RVYEVPVETKF"
     misc_feature    430..492
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P40879.1);
                     transmembrane region"
     misc_feature    499..561
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P40879.1);
                     transmembrane region"
     misc_feature    574..636
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P40879.1);
                     transmembrane region"
     misc_feature    658..660
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22159084; propagated from
                     UniProtKB/Swiss-Prot (P40879.1); glycosylation site"
     misc_feature    682..684
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22159084; propagated from
                     UniProtKB/Swiss-Prot (P40879.1); glycosylation site"
     misc_feature    694..696
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22159084; propagated from
                     UniProtKB/Swiss-Prot (P40879.1); glycosylation site"
     misc_feature    727..789
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P40879.1);
                     transmembrane region"
     misc_feature    793..855
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P40879.1);
                     transmembrane region"
     misc_feature    973..1035
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P40879.1);
                     transmembrane region"
     misc_feature    1228..1290
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P40879.1);
                     transmembrane region"
     misc_feature    1324..1386
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P40879.1);
                     transmembrane region"
     misc_feature    1435..1497
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P40879.1);
                     transmembrane region"
     misc_feature    1609..1671
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P40879.1);
                     transmembrane region"
     misc_feature    2482..2493
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P40879.1);
                     Region: PDZ-binding. /evidence=ECO:0000269|PubMed:22627094"
     regulatory      2860..2865
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="hexamer: ATTAAA"
     polyA_site      2882
                     /gene="SLC26A3"
                     /gene_synonym="CLD; DRA"
                     /note="major polyA site"
ORIGIN
        1 acacagagcc tgtagacctg agtggatgga cactgcctct tagaactaga acttagaact
       61 ttatcttgaa aatgtaccac tgttgcagaa gctcctcaca gagtatgtgt caggcatttt
      121 taacctgcta aaggcaagaa gaagtgttca ccacatagtt gcaaaggtct tcaacttgcc
      181 acagccaaca gaaaaatcaa aatgattgaa ccctttggga atcagtatat tgtggccagg
      241 ccagtgtatt ctacaaatgc ttttgaggaa aatcataaaa agacaggaag acatcataag
      301 acatttctgg atcatctcaa agtgtgttgt agctgttccc cacaaaaggc caagagaatt
      361 gtcctctctt tgttccccat agcatcttgg ttgccagcat accggcttaa agaatggttg
      421 ctcagtgata ttgtttctgg tatcagcaca gggattgtgg ccgtactaca aggtttagca
      481 tttgctctgc tggtcgacat tcccccagtc tatgggttgt atgcatcctt tttcccagcc
      541 ataatctacc ttttcttcgg cacttccaga cacatatccg tgggtccgtt tccgattctg
      601 agtatgatgg tgggactagc agtttcagga gcagtttcaa aagcagtccc agatcgcaat
      661 gcaactactt tgggattgcc taacaactcg aataattctt cactactgga tgacgagagg
      721 gtgagggtgg cggcggcggc atcagtcaca gtgctttctg gaatcatcca gttggctttt
      781 gggattctgc ggattggatt tgtagtgata tacctgtctg agtccctcat cagtggcttc
      841 actactgctg ctgctgttca tgttttggtt tcccaactca aattcatttt tcagttgaca
      901 gtcccgtcac acactgatcc agtttcaatt ttcaaagtac tatactctgt attctcacaa
      961 atagagaaga ctaatattgc agacctggtg acagctctga ttgtcctttt ggttgtatcc
     1021 attgttaaag aaataaatca gcgcttcaaa gacaaacttc cagtgcccat tccaatcgaa
     1081 ttcattatga ccgtgattgc agcaggtgta tcctacggct gtgactttaa aaacaggttt
     1141 aaagtggctg tggttgggga catgaatcct ggatttcagc cccctattac acctgacgtg
     1201 gagactttcc aaaacaccgt aggagattgc ttcggcatcg caatggttgc atttgcagtg
     1261 gccttttcag ttgccagcgt ctattccctc aaatacgatt atccacttga tggcaatcag
     1321 gagttaatag ccttgggact gggtaacata gtctgtggag tattcagagg atttgctggg
     1381 agtactgccc tctccagatc agcagttcag gagagcacag gaggcaaaac acagattgct
     1441 gggcttattg gtgccatcat cgtgctgatt gtcgttctag ccattggatt tctcctggcg
     1501 cctctacaaa agtccgtcct ggcagcttta gcattgggaa acttaaaggg aatgctgatg
     1561 cagtttgctg aaataggcag attgtggcga aaggacaaat atgattgttt aatttggatc
     1621 atgaccttca tcttcaccat tgtcctggga ctcgggttag gcctggcagc tagtgtggca
     1681 tttcaactgc taaccatcgt gttcaggacc caatttccaa aatgcagcac gctggctaat
     1741 attggaagaa ccaacatcta taagaataaa aaagattatt atgatatgta tgagccagaa
     1801 ggagtgaaaa ttttcagatg tccatctcct atctactttg caaacattgg tttctttagg
     1861 cggaaactta tcgatgctgt tggctttagt ccacttcgaa ttctacgcaa gcgcaacaaa
     1921 gctttgagga aaatccgaaa actgcagaag caaggcttgc tacaagtgac accaaaagga
     1981 tttatatgta ctgttgacac cataaaagat tctgacgaag agctggacaa caatcagata
     2041 gaagtactgg accagccaat caataccaca gacctgcctt tccacattga ctggaatgat
     2101 gatcttcctc tcaacattga ggtccccaaa atcagcctcc acagcctcat tcttgacttt
     2161 tcagcagtgt cctttcttga tgtttcttca gtgaggggcc ttaaatcgat tttgcaagaa
     2221 tttatcagga tcaaggtaga tgtgtatatc gttggaactg atgatgactt cattgagaag
     2281 cttaaccggt atgaattttt tgatggtgaa gtgaaaagct caatattttt cttaacaatc
     2341 catgatgctg ttttgcatat tttgatgaag aaagattaca gtacttcaaa gtttaatccc
     2401 agtcaggaaa aagatggaaa aattgatttt accataaata caaatggagg attacgtaat
     2461 cgggtatatg aggtgccagt tgaaacaaaa ttctaatcaa catataattc agaaggatct
     2521 tcatctgact atgacataaa aacaacttta tacccagaaa gttattgata agttcataca
     2581 ttgtacgaag agtatttttg acagaatatg tttcaaactt tggaacaaga tggttctagc
     2641 atggcatatt tttcacatat ctagtatgaa attatataag tattctaaat tttatatctt
     2701 gtagctttat caaagggtga aaattatttt gttcatacat atttttgtag cactgacaga
     2761 tttccatcct agtcactacc ttcatgcata ggtttagcag tatagtggcg ccactgtttt
     2821 gaatctcata atttatacag gtcatattaa tatatttcca ttaaaaaatc agttgtacag
     2881 tg
//
LOCUS       NM_000112               8054 bp    mRNA    linear   PRI 23-MAY-2023
DEFINITION  Homo sapiens solute carrier family 26 member 2 (SLC26A2), mRNA.
ACCESSION   NM_000112
VERSION     NM_000112.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8054)
  AUTHORS   Biji IK, Yadav S, Kulshrestha S, Saxena R, Kohli S, Verma IC, Kumar
            B and Puri RD.
  TITLE     Computational biology insights into genotype-clinical
            phenotype-protein phenotype relationships between novel SLC26A2
            variants identified in inherited skeletal dysplasias
  JOURNAL   Eur J Med Genet 65 (10), 104595 (2022)
   PUBMED   36007841
  REMARK    GeneRIF: Computational biology insights into genotype-clinical
            phenotype-protein phenotype relationships between novel SLC26A2
            variants identified in inherited skeletal dysplasias.
REFERENCE   2  (bases 1 to 8054)
  AUTHORS   Markova T, Kenis V, Melchenko E, Alieva A, Nagornova T, Orlova A,
            Ogorodova N, Shchagina O, Polyakov A, Dadali E and Kutsev S.
  TITLE     Clinical and Genetic Characteristics of Multiple Epiphyseal
            Dysplasia Type 4
  JOURNAL   Genes (Basel) 13 (9), 1512 (2022)
   PUBMED   36140680
  REMARK    GeneRIF: Clinical and Genetic Characteristics of Multiple Epiphyseal
            Dysplasia Type 4. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 8054)
  AUTHORS   Sato T, Kojima T, Samura O, Kawaguchi S, Nakamura A, Nakajima M,
            Tanuma-Takahashi A, Nakabayashi K, Hata K, Ikegawa S, Nishimura G,
            Okamoto A and Yamada T.
  TITLE     Two unrelated pedigrees with achondrogenesis type 1b carrying a
            Japan-specific pathogenic variant in SLC26A2
  JOURNAL   Am J Med Genet A 182 (4), 735-739 (2020)
   PUBMED   31880411
  REMARK    GeneRIF: Two unrelated pedigrees with achondrogenesis type 1b
            carrying a Japan-specific pathogenic variant in SLC26A2.
REFERENCE   4  (bases 1 to 8054)
  AUTHORS   Superti-Furga A, Hastbacka J, Wilcox WR, Cohn DH, van der Harten HJ,
            Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES and Gitzelmann R.
  TITLE     Achondrogenesis type IB is caused by mutations in the diastrophic
            dysplasia sulphate transporter gene
  JOURNAL   Nat Genet 12 (1), 100-102 (1996)
   PUBMED   8528239
REFERENCE   5  (bases 1 to 8054)
  AUTHORS   Hastbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP,
            Daly M, Hamilton BA, Kusumi K, Trivedi B, Weaver A et al.
  TITLE     The diastrophic dysplasia gene encodes a novel sulfate transporter:
            positional cloning by fine-structure linkage disequilibrium mapping
  JOURNAL   Cell 78 (6), 1073-1087 (1994)
   PUBMED   7923357
REFERENCE   6  (bases 1 to 8054)
  AUTHORS   Unger,S. and Superti-Furga,A.
  TITLE     Achondrogenesis Type 1B
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301689
REFERENCE   7  (bases 1 to 8054)
  AUTHORS   Unger,S. and Superti-Furga,A.
  TITLE     Diastrophic Dysplasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301524
REFERENCE   8  (bases 1 to 8054)
  AUTHORS   Superti-Furga,A. and Unger,S.
  TITLE     SLC26A2-Related Atelosteogenesis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301493
REFERENCE   9  (bases 1 to 8054)
  AUTHORS   Unger,S. and Superti-Furga,A.
  TITLE     SLC26A2-Related Multiple Epiphyseal Dysplasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301483
REFERENCE   10  (bases 1 to 8054)
  AUTHORS   Hastbacka J, Sistonen P, Kaitila I, Weiffenbach B, Kidd KK and de la
            Chapelle A.
  TITLE     A linkage map spanning the locus for diastrophic dysplasia (DTD)
  JOURNAL   Genomics 11 (4), 968-973 (1991)
   PUBMED   1783404
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.4533623.1,
            SRR14038196.951113.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000286298.5/ ENSP00000286298.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008427.9, BC059390.1 and
            AW089339.1.
            On Aug 31, 2019 this sequence version replaced NM_000112.3.
            Summary: The diastrophic dysplasia sulfate transporter is a
            transmembrane glycoprotein implicated in the pathogenesis of
            several human chondrodysplasias. It apparently is critical in
            cartilage for sulfation of proteoglycans and matrix organization.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..8054
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..8054
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="solute carrier family 26 member 2"
                     /db_xref="GeneID:1836"
                     /db_xref="HGNC:HGNC:10994"
                     /db_xref="MIM:606718"
     CDS             248..2467
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="sulfate anion transporter 1; diastrophic dysplasia
                     protein; solute carrier family 26 (sulfate transporter),
                     member 2; solute carrier family 26 (anion exchanger),
                     member 2"
                     /codon_start=1
                     /product="sulfate transporter"
                     /protein_id="NP_000103.2"
                     /db_xref="CCDS:CCDS4300.1"
                     /db_xref="GeneID:1836"
                     /db_xref="HGNC:HGNC:10994"
                     /db_xref="MIM:606718"
                     /translation="MSSESKEQHNVSPRDSAEGNDSYPSGIHLELQRESSTDFKQFETN
                     DQCRPYHRILIERQEKSDTNFKEFVIKKLQKNCQCSPAKAKNMILGFLPVLQWLPKYDL
                     KKNILGDVMSGLIVGILLVPQSIAYSLLAGQEPVYGLYTSFFASIIYFLLGTSRHISVG
                     IFGVLCLMIGETVDRELQKAGYDNAHSAPSLGMVSNGSTLLNHTSDRICDKSCYAIMVG
                     STVTFIAGVYQVAMGFFQVGFVSVYLSDALLSGFVTGASFTILTSQAKYLLGLNLPRTN
                     GVGSLITTWIHVFRNIHKTNLCDLITSLLCLLVLLPTKELNEHFKSKLKAPIPIELVVV
                     VAATLASHFGKLHENYNSSIAGHIPTGFMPPKVPEWNLIPSVAVDAIAISIIGFAITVS
                     LSEMFAKKHGYTVKANQEMYAIGFCNIIPSFFHCFTTSAALAKTLVKESTGCHTQLSGV
                     VTALVLLLVLLVIAPLFYSLQKSVLGVITIVNLRGALRKFRDLPKMWSISRMDTVIWFV
                     TMLSSALLSTEIGLLVGVCFSIFCVILRTQKPKSSLLGLVEESEVFESVSAYKNLQIKP
                     GIKIFRFVAPLYYINKECFKSALYKQTVNPILIKVAWKKAAKRKIKEKVVTLGGIQDEM
                     SVQLSHDPLELHTIVIDCSAIQFLDTAGIHTLKEVRRDYEAIGIQVLLAQCNPTVRDSL
                     TNGEYCKKEEENLLFYSVYEAMAFAEVSKNQKGVCVPNGLSLSSD"
     misc_feature    248..328
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="propagated from UniProtKB/Swiss-Prot (P50443.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    281..283
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P50443.2); phosphorylation site"
     misc_feature    293..295
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P50443.2); phosphorylation site"
     misc_feature    581..643
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="propagated from UniProtKB/Swiss-Prot (P50443.2);
                     transmembrane region"
     misc_feature    656..718
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="propagated from UniProtKB/Swiss-Prot (P50443.2);
                     transmembrane region"
     misc_feature    842..844
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P50443.2); glycosylation site"
     misc_feature    860..862
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P50443.2); glycosylation site"
     misc_feature    902..964
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="propagated from UniProtKB/Swiss-Prot (P50443.2);
                     transmembrane region"
     misc_feature    971..1033
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="propagated from UniProtKB/Swiss-Prot (P50443.2);
                     transmembrane region"
     misc_feature    1316..1318
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P50443.2); glycosylation site"
     misc_feature    1379..1441
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="propagated from UniProtKB/Swiss-Prot (P50443.2);
                     transmembrane region"
     misc_feature    1505..1567
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="propagated from UniProtKB/Swiss-Prot (P50443.2);
                     transmembrane region"
     misc_feature    1610..1672
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="propagated from UniProtKB/Swiss-Prot (P50443.2);
                     transmembrane region"
     misc_feature    1817..1879
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="propagated from UniProtKB/Swiss-Prot (P50443.2);
                     transmembrane region"
     regulatory      8032..8037
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="hexamer: AATAAA"
     polyA_site      8054
                     /gene="SLC26A2"
                     /gene_synonym="D5S1708; DTD; DTDST; EDM4; MST153; MSTP157"
                     /note="major polyA site"
ORIGIN
        1 gtttacactg gctctgcctc cggcatctct tcgccggtgc gtcctcgccg cgcccgtagg
       61 tcccggcagc cgggccccgc ctccttcgga gtccgagcga tgggcgggga aagggacagg
      121 caggtatagc tctgtcggcg ccgcggtgtc cacctcagtc aggccacggt ggaagacgcg
      181 tgccgcggcg cctggttgcc tgcagcggcc cggacccgag aggaagctga accatctatc
      241 tccagaaatg tcttcagaaa gtaaagagca acataacgtt tcacccagag actcagctga
      301 aggaaatgac agttatccat ctgggatcca tctggaactt caaagggaat caagtactga
      361 cttcaagcaa tttgagacca atgatcaatg cagaccttat cataggatcc ttattgagcg
      421 tcaagagaaa tcagatacaa acttcaagga gtttgttatt aaaaagctgc agaagaattg
      481 ccagtgcagt ccagccaaag ccaaaaatat gattttaggt ttccttcctg ttttgcagtg
      541 gctcccaaaa tacgacctaa agaaaaacat tttaggggat gtgatgtcag gcttgattgt
      601 gggcatatta ttggtgcccc agtccattgc ttattccctg ctggctggcc aagaacctgt
      661 ctatggtctg tacacatctt tttttgccag catcatttat tttctcttgg gtacctcccg
      721 tcacatctct gtgggcattt ttggagtact gtgccttatg attggtgaga cagttgaccg
      781 agaactacag aaagctggct atgacaatgc ccatagtgct ccttccttag gaatggtttc
      841 aaatgggagc acattattaa atcatacatc agacaggata tgtgacaaaa gttgctatgc
      901 aattatggtt ggcagcactg taacctttat agctggagtt tatcaggtag cgatgggctt
      961 ctttcaagtg ggttttgttt ctgtctacct ctcagatgcc ttgctgagtg gatttgtcac
     1021 tggtgcctcc ttcactattc ttacatctca ggccaagtat cttcttgggc tcaaccttcc
     1081 tcggactaat ggtgtgggct cactcatcac tacctggata catgtcttca gaaacatcca
     1141 taagaccaat ctctgtgatc ttatcaccag ccttttgtgc cttttggttc ttttgccaac
     1201 caaagaactc aatgaacact tcaaatccaa gcttaaggca ccgattccta ttgaacttgt
     1261 tgttgttgta gcagccacat tagcctctca ttttggaaaa ctacatgaaa attataattc
     1321 tagtattgct ggacatattc ccactgggtt tatgccaccc aaagtaccag aatggaacct
     1381 aattcctagt gtggctgtag atgcaatagc tatttccatc attggttttg ctatcactgt
     1441 atcactttct gagatgtttg ccaagaaaca tggttacaca gtcaaagcaa accaggaaat
     1501 gtatgccatt ggcttttgta atatcatccc ttccttcttc cactgtttta ctactagtgc
     1561 agctcttgca aagacattgg ttaaagaatc aacaggctgc catactcagc tttctggtgt
     1621 ggtaacagcc ctggttcttt tgttggtcct cctagtaata gctcctttgt tctattccct
     1681 tcaaaaaagt gtccttggtg tgatcacaat tgtaaatcta cggggagccc ttcgtaaatt
     1741 tagggatctt cccaaaatgt ggagtattag tagaatggat acagttatct ggtttgttac
     1801 tatgctgtcc tctgcactgc taagtactga aataggccta cttgttgggg tttgtttttc
     1861 tatattttgt gtcatcctcc gcactcagaa gccaaagagt tcactgcttg gcttggtgga
     1921 agagtctgag gtctttgaat ctgtgtctgc ttacaagaac cttcagatta agccaggcat
     1981 caagattttc cgctttgtag cccctctcta ctacataaac aaagaatgct ttaaatctgc
     2041 tttatacaaa caaactgtca acccaatctt aataaaggtg gcttggaaga aggcagcaaa
     2101 gagaaagatc aaagaaaaag tagtgactct tggtggaatc caggatgaaa tgtcagtgca
     2161 actttcccat gatcccttgg agctgcatac tatagtgatt gactgcagtg caattcaatt
     2221 tttagataca gcagggatcc acacactgaa agaagttcgc agagattatg aagccattgg
     2281 aatccaggtt ctgctggctc agtgcaatcc cactgtgagg gattccctaa ccaacggaga
     2341 atattgcaaa aaggaagaag aaaaccttct cttctatagt gtgtatgaag cgatggcttt
     2401 tgcagaagta tctaaaaatc agaaaggagt atgtgttccc aatggtctga gtcttagtag
     2461 tgattaattg agaaggtaga tagaagaatg tctagccaat aggttaaaat ttcaagtgtc
     2521 caacatttcc cagttccaca gtgggaaatt ttgcacactt gaaattttaa ccaagtggct
     2581 agatattatt cctcctttga agctaatggc atttgtatat acacactgca gcagagcttg
     2641 tagctggaca gagtcaaaaa gaagaaaata cggtttcagg ctttcttgca gatatgaagt
     2701 attcttggaa tgcaataagt atgtattgaa ctgtactgta aagtagctcc aaaacttaat
     2761 tactctcctg ttttaggggt tatacatttg gactgtgcat tctccaagag atgaagcggt
     2821 gaagttggga tttacattgg aagtgctgta gacttcttta tgtggctcag tggagagagg
     2881 gaaagaatgt tgcacctgct ctagtaccat aggtcaagag gcttctggat cacaaagtca
     2941 taactagaca ggtttgttct tgtagttttc tatccccagt ctttgctccc cagatggcag
     3001 tagtttttag taggaaagtg ccattcctgt ccttaaggca cagtctcatc agaagtctaa
     3061 tacctgggca ggtttataac atcctgagag ccagcctgac attagacaga ataccctttg
     3121 taatacattg gaaattttta ctcatgcctt tttgtttagg ataaataggt aagcacaaag
     3181 agctcttcaa aatcagaaaa aacaatagga gtccttcctt gtcttttctg tgatctctgt
     3241 ccttgtttct gagactttct ctaccattaa gctctatttt agctttcagt tattctagtt
     3301 tgtttcccat ggaatctgtc ctaaactggt gtttttgtca gtgacagtct tgccagtcag
     3361 caatttctaa cagcatttta aatgagtttg atgtacagta aatattgatg acaatgacag
     3421 cttttaactc ttcaagtcac ctaaagctat tatgcaggag gatttagaag tcacattcat
     3481 aaaacccaag tgctatgggt gtattattca tgatagctgg cccacaggtc atgaattgag
     3541 gaggaatttg ctttcaaaaa gcaagaatgt ccaacactga aagtttatag ttttatattt
     3601 ggaccttgaa aggtaagaaa aaaccaggtt ctccaaagtt aggaataggg aactaattta
     3661 tgaaacagcc atcttaaaaa aaaaaaaagt aaactgcaaa agtacaaaat catttttcaa
     3721 tctgttccca gtttctaaac aattttaaat atttatgaga agcaaaccct atgtgtaggg
     3781 catctgttgg agtgggatgc ttttagacat atattaagta tgtacatgtt taatatgtat
     3841 atttaaaatg catatatatt ttattatatc tatattatcc tatatagata tatgtaactt
     3901 agctttattg ttagctccat aagctgccag tgttgctttt ctgttggtag agctctccca
     3961 tttggtgaca tggaaaatac ctttccatta tcacaacaaa gcagttgctc agtagaaagt
     4021 ctagatttct gtcttatagg tgatttctgt cttataggtg attataatca agtgtaggct
     4081 tcctgaattt tgacatcctt ttagaacttg ggtctggaat tccagaaatg ttaattgctg
     4141 cttgtatttg ttcttgtttg ttttttagcc agtatttgcc ctttctatcc agccttatga
     4201 ataatagcag taaaatcaca gtatcttggt cagtctttat ttttttcctt ttttcttttt
     4261 taagagacag tcatccaggc cagagtgcag tttgatgata gcttactgaa gcttcccact
     4321 cctgggctca agttatcctt ccattttggc ctcctgagta gctagaccat aggtatgcat
     4381 caccacaccc tgctaatttt ttaaattttt ttctagagag agggtctcac tgtgttgccc
     4441 aggctggtct caaactccag gctcaagcaa tccttcagcc tcagcctccc agagtgttgg
     4501 gattacaggc gtgagccact gcacttggcc aagttattta tttttaatct ctcttgccct
     4561 tctcccaagg caggcttaag ttgagactat tataggtgtc taataacctg tgacagagta
     4621 atgagtacat gcttaagatg ttataattag ccaacaccaa cacagcaaaa aatataattc
     4681 cagccaaaga ttctggaaaa tccctcagaa ggagggataa caggatttga cctttaccag
     4741 cgatttctgt ccatatgtgg atgtaaacag ttctggaacg ttatgcatgc agttagcgaa
     4801 tccttgaatt atgttctggt ttgtacttgt cccatccatc caaacaagag attctgcttt
     4861 tggtagccat ctgtagaaac atttaagatg tcactagaat ttacatttca tcctctctac
     4921 ttgggttgag gttgcctata cttgcatatt gttaaaatgt tttggttgct gatattcaga
     4981 ggaatgaaac ctggaaccaa agcctaattt gccgataaaa aaactgtttt cggccaggtg
     5041 cagtggctca tgcctgtaat cccagcacgt tgggaggccg aggcgggtgg atcacctgaa
     5101 gtcaggagtt cgagaccatc ctggctaaca ctgtgaaacc ccgtctctac taaaaataca
     5161 aaaaattagc ggggcatggt ggcacgcgcc tgtagtccca gctactcagg aggctgaggc
     5221 aggagaatta cttgaacccg ggaggcggag gttgcagtaa gcagagattg tgccactgga
     5281 ctccagcctg ggtgacagag cgagactccg tctcaaacaa acaaacaaaa aactgttttc
     5341 atttgctctc ttgaccaaag gataggactt tagttcttta agcattattt taaacactat
     5401 attgatacaa aaatatcttg cttactctaa actttagagt ctaaatgaag ctttttctca
     5461 gtacaagatt ctgagtatca taaaatggtt atttaattga aacgtagtgt ggtatactct
     5521 tgatggttag aactcttaca gccttattta tttttaagtt tgttacagcc aaagggttgg
     5581 agtgtgccag tgcacaggta gactaaggaa aacattatag aggagtgaag agaacagacc
     5641 attgaaaaga ctattatctg accagcggag gcagaaaaga gaggaaccca gttgaatagg
     5701 atccaatccc tggttagcct ctacacaata atagggagac aaggattagg agccatacct
     5761 cccagagcaa ggtatctttc tagagcaaat ttctctttct agaaggggag ggtcacaggg
     5821 tcacagattc accaaagctg aaagggctga ggagctcatg gtagcctggg ctgacctact
     5881 ctggagcacg gtgtcttcct tctaaactga gtgactgtag tactatctgt gcctctgatg
     5941 gtaataaaac tgacaagatg tctaattttt ttttaagtag gaccaaagga aaacaagatt
     6001 tagatagtct gactttgctt ttgaacaaca gacattgcaa gtcaaaattg ttgtcaaatt
     6061 tacatatggt aaatgatgaa ctttaaaaat gtgtccaggt gttagatgag ttcattagac
     6121 tcttttaatg ctaatggcta gtacgtttaa acaaaacagc agttctctgc tgcaatattc
     6181 ccattgacca cttaaatgac cataagtggt catttaagaa catgttaggg ttagccctga
     6241 tctgaatata aaagtgagaa aagggctaca gtgcatttct tggtaactta aactgagtct
     6301 tgaagttata atgatccatt cgagttctgt gatccttatt gttcttaatt gtgtttctct
     6361 acgtattgtt acagatgagc catacgtttc tttgtatcaa tgtagacatg acttcagata
     6421 cctctgagga cctacccagc agtctaggac cctgggccaa gtgctgggac tatggtacta
     6481 aatccagtag atgggctgtg tagcaactct cccagggaac acactagggt acttagggag
     6541 gtgctttgtg gagcatgttg aagctttgag atctgagcag gaggcagtga tgtccctggt
     6601 ctattcaggg aaagatttca gtgtgaaatg gtaaacatcc aattgacagg atttagattt
     6661 tgcttagttt ttctgctttt taatgtttct atcccccatc tcagtgtttt ctttatccat
     6721 cccagtgatg ccttatttga aactgggctt aaactgcaaa aagaatgaag ttggatttag
     6781 gaagctgtta gatcattgag tggtgttgag agtgaagttt cactagcagg gaagtttcct
     6841 tgagcctaaa ataaaaagaa aaaattaaaa agaatcagtt tttttaatta aaaaaataga
     6901 aagctgttag gctcctaatt cgtggggttt ttttttgtaa aaacagttta gataatcctg
     6961 aatgcaatca ttaacttggt tgctaattac aagaatgaaa attataatgg aaaaggacaa
     7021 aataatatac cagctggttt gttattatag tccgtgtatt aaaatactat tgaaatacgt
     7081 taaaggtaaa tttttaaggt ttaaaaaaaa tttagtaact tacagggatg gagaatttag
     7141 atgtcagagg tggggagatt tatttttata aggtaatttt tatcctgata aggacttaaa
     7201 aaaaagtttt gcaactgaaa ttttaaagta aacatgttaa gtacagttaa aaagtaagca
     7261 ttgtagtaaa tagtggattc tctggtgtgt attttttatc tcagtgttga aaattggaaa
     7321 agaatggact gaagtctaaa aactggaata atgaaggaca ctaaatgcct ttattgtaga
     7381 tactatgttt gtaagtctat agctaagcaa cttaagccaa aaaggtcttt caactgaagc
     7441 tttaatcaac ttattttgga gatgttctct tcccttatct catgcgtcat ccctaaaata
     7501 ataagataca tgggatcaaa tagcccttgc cttttcaaca caaatcagtt ggaaaattat
     7561 ggtttgagtc ctgttgctgc catggcttct gtttctcaga aatgagtgtg tatgaacata
     7621 ccaatctatg taataggcta cctttttttg tcttctttgg aactttgtac acaaaccaag
     7681 acaatatcag ggtgacaggt gaatgaactt aaattctcag tcttgtctat tcaccaaaaa
     7741 agtatactgc ctgttttttc tttaattatt caaggttgat gacttttagg aacatgtttt
     7801 atactgtatt ttttaattaa agcaagtgcc ttgatgtaat tccatgtaaa tcattgctta
     7861 accctcttat gggatgagga tgagttatta atgtattgca gcctactgga aaggaggggg
     7921 agttggttaa tagcagatac ttttcttcta gaagcttatg ttttatgctg tttattatgt
     7981 aagatcctgt atgtgtgttg agatttagag gtttcatttg ttttgtctgc taataaattg
     8041 ttactctaat aata
//
LOCUS       NM_000113               2080 bp    mRNA    linear   PRI 26-JUN-2023
DEFINITION  Homo sapiens torsin family 1 member A (TOR1A), mRNA.
ACCESSION   NM_000113
VERSION     NM_000113.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2080)
  AUTHORS   Taiwo FT and Adebayo PB.
  TITLE     Neuroimaging findings in DYT1 dystonia and the pathophysiological
            implication: A systematic review
  JOURNAL   Brain Behav 13 (6), e3023 (2023)
   PUBMED   37165749
  REMARK    GeneRIF: Neuroimaging findings in DYT1 dystonia and the
            pathophysiological implication: A systematic review. Review article
REFERENCE   2  (bases 1 to 2080)
  AUTHORS   Van Coller R, Schutte CM, Lubbe E and Ngele B.
  TITLE     TOR1A mutation-related isolated childhood-onset generalised dystonia
            in South Africa
  JOURNAL   S Afr Med J 111 (10), 946-949 (2021)
   PUBMED   34949287
  REMARK    GeneRIF: TOR1A mutation-related isolated childhood-onset generalised
            dystonia in South Africa. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2080)
  AUTHORS   Knorr S, Rauschenberger L, Pasos UR, Friedrich MU, Peach RL,
            Grundmann-Hauser K, Ott T, O'Leary A, Reif A, Tovote P, Volkmann J
            and Ip CW.
  TITLE     The evolution of dystonia-like movements in TOR1A rats after
            transient nerve injury is accompanied by dopaminergic dysregulation
            and abnormal oscillatory activity of a central motor network
  JOURNAL   Neurobiol Dis 154, 105337 (2021)
   PUBMED   33753289
  REMARK    GeneRIF: The evolution of dystonia-like movements in TOR1A rats
            after transient nerve injury is accompanied by dopaminergic
            dysregulation and abnormal oscillatory activity of a central motor
            network.
REFERENCE   4  (bases 1 to 2080)
  AUTHORS   Luithle N, de Bos JU, Hovius R, Maslennikova D, Lewis RT, Ungricht
            R, Fierz B and Kutay U.
  TITLE     Torsin ATPases influence chromatin interaction of the Torsin
            regulator LAP1
  JOURNAL   Elife 9, e63614 (2020)
   PUBMED   33320087
  REMARK    GeneRIF: Torsin ATPases influence chromatin interaction of the
            Torsin regulator LAP1. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2080)
  AUTHORS   Kamm C, Castelon-Konkiewitz E, Naumann M, Heinen F, Brack M, Nebe A,
            Ceballos-Baumann A and Gasser T.
  TITLE     GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion
            dystonia in Germany
  JOURNAL   Mov Disord 14 (4), 681-683 (1999)
   PUBMED   10435508
REFERENCE   6  (bases 1 to 2080)
  AUTHORS   Augood SJ, Penney JB Jr, Friberg IK, Breakefield XO, Young AB,
            Ozelius LJ and Standaert DG.
  TITLE     Expression of the early-onset torsion dystonia gene (DYT1) in human
            brain
  JOURNAL   Ann Neurol 43 (5), 669-673 (1998)
   PUBMED   9585364
REFERENCE   7  (bases 1 to 2080)
  AUTHORS   Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C,
            de Leon D, Brin MF, Raymond D, Jacoby D, Penney J, Risch NJ, Fahn S,
            Gusella JF and Breakefield XO.
  TITLE     The gene (DYT1) for early-onset torsion dystonia encodes a novel
            protein related to the Clp protease/heat shock family
  JOURNAL   Adv Neurol 78, 93-105 (1998)
   PUBMED   9750906
  REMARK    Review article
REFERENCE   8  (bases 1 to 2080)
  AUTHORS   Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C,
            de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler
            AJ, Gusella JF and Breakefield XO.
  TITLE     The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding
            protein
  JOURNAL   Nat Genet 17 (1), 40-48 (1997)
   PUBMED   9288096
REFERENCE   9  (bases 1 to 2080)
  AUTHORS   Ozelius,L. and Lubarr,N.
  TITLE     DYT1 Early-Onset Isolated Dystonia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301665
REFERENCE   10  (bases 1 to 2080)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.312261.1,
            SRR1660807.193372.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000351698.5/ ENSP00000345719.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU098588.1, BC014484.1,
            BC000674.2, AK075343.1, AF007871.1, AK056062.1 and BU790507.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000113.2.
            Summary: The protein encoded by this gene is a member of the AAA
            family of adenosine triphosphatases (ATPases), is related to the
            Clp protease/heat shock family and is expressed prominently in the
            substantia nigra pars compacta. Mutations in this gene result in
            the autosomal dominant disorder, torsion dystonia 1. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2080
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..2080
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /note="torsin family 1 member A"
                     /db_xref="GeneID:1861"
                     /db_xref="HGNC:HGNC:3098"
                     /db_xref="MIM:605204"
     CDS             52..1050
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /note="dystonia 1, torsion (autosomal dominant; torsin A);
                     dystonia 1 protein; torsin ATPase 1; torsin ATPase-1A"
                     /codon_start=1
                     /product="torsin-1A precursor"
                     /protein_id="NP_000104.1"
                     /db_xref="CCDS:CCDS6930.1"
                     /db_xref="GeneID:1861"
                     /db_xref="HGNC:HGNC:3098"
                     /db_xref="MIM:605204"
                     /translation="MKLGRAVLGLLLLAPSVVQAVEPISLGLALAGVLTGYIYPRLYCL
                     FAECCGQKRSLSREALQKDLDDNLFGQHLAKKIILNAVFGFINNPKPKKPLTLSLHGWT
                     GTGKNFVSKIIAENIYEGGLNSDYVHLFVATLHFPHASNITLYKDQLQLWIRGNVSACA
                     RSIFIFDEMDKMHAGLIDAIKPFLDYYDLVDGVSYQKAMFIFLSNAGAERITDVALDFW
                     RSGKQREDIKLKDIEHALSVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYKHLKMCI
                     RVEMQSRGYEIDEDIVSRVAEEMTFFPKEERVFSDKGCKTVFTKLDYYYDD"
     sig_peptide     52..111
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    322..804
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /note="propagated from UniProtKB/Swiss-Prot (O14656.1);
                     Region: Interaction with SNAPIN"
     misc_feature    478..480
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /note="N-linked (GlcNAc...) (high mannose) asparagine.
                     /evidence=ECO:0000269|PubMed:10871631; propagated from
                     UniProtKB/Swiss-Prot (O14656.1); glycosylation site"
     misc_feature    523..525
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /note="N-linked (GlcNAc...) (high mannose) asparagine.
                     /evidence=ECO:0000269|PubMed:10871631; propagated from
                     UniProtKB/Swiss-Prot (O14656.1); glycosylation site"
     misc_feature    802..1047
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /note="propagated from UniProtKB/Swiss-Prot (O14656.1);
                     Region: Interaction with KLC1.
                     /evidence=ECO:0000269|PubMed:14970196"
     misc_feature    985..1047
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /note="propagated from UniProtKB/Swiss-Prot (O14656.1);
                     Region: Interaction with SYNE3.
                     /evidence=ECO:0000269|PubMed:18827015"
     polyA_site      1443
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /note="major polyA site"
     regulatory      1922..1927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /note="hexamer: ATTAAA"
     polyA_site      1945
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
     regulatory      2060..2065
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
                     /note="hexamer: AATAAA"
     polyA_site      2080
                     /gene="TOR1A"
                     /gene_synonym="AMC5; DQ2; DYT1"
ORIGIN
        1 gcaccggttc gcggtcggcg cgagaacaag cagggtggcg cgggtccggg catgaagctg
       61 ggccgggccg tgctgggcct gctgctgctg gcgccgtccg tggtgcaggc ggtggagccc
      121 atcagcctgg gactggccct ggccggcgtc ctcaccggct acatctaccc gcgtctctac
      181 tgcctcttcg ccgagtgctg cgggcagaag cggagcctta gccgggaggc actgcagaag
      241 gatctggacg acaacctctt tggacagcat cttgcaaaga aaatcatctt aaatgccgtg
      301 tttggtttca taaacaaccc aaagcccaag aaacctctca cgctctccct gcacgggtgg
      361 acaggcaccg gcaaaaattt cgtcagcaag atcatcgcag agaatattta cgagggtggt
      421 ctgaacagtg actatgtcca cctgtttgtg gccacattgc actttccaca tgcttcaaac
      481 atcaccttgt acaaggatca gttacagttg tggattcgag gcaacgtgag tgcctgtgcg
      541 aggtccatct tcatatttga tgaaatggat aagatgcatg caggcctcat agatgccatc
      601 aagcctttcc tcgactatta tgacctggtg gatggggtct cctaccagaa agccatgttc
      661 atatttctca gcaatgctgg agcagaaagg atcacagatg tggctttgga tttctggagg
      721 agtggaaagc agagggaaga catcaagctc aaagacattg aacacgcgtt gtctgtgtcg
      781 gttttcaata acaagaacag tggcttctgg cacagcagct taattgaccg gaacctcatt
      841 gattattttg ttcccttcct ccccctggaa tacaaacacc taaaaatgtg tatccgagtg
      901 gaaatgcagt cccgaggcta tgaaattgat gaagacattg taagcagagt ggctgaggag
      961 atgacatttt tccccaaaga ggagagagtt ttctcagata aaggctgcaa aacggtgttc
     1021 accaagttag attattacta cgatgattga cagtcatgat tggcagccgg agtcactgcc
     1081 tggagttgga aaagaaacaa cactcagtcc ttccacactt ccacccccag ctcctttccc
     1141 tggaagagga atccagtgaa tgttcctgtt tgatgtgaca ggaattctcc ctggcattgt
     1201 ttccaccccc tggtgcctgc aggccaccca gggaccacgg gcgaggacgt gaagcctccc
     1261 gaacacgcac agaaggaagg agccagctcc cagcccactc atcgcagggc tcatgatttt
     1321 ttacaaatta tgttttaatt ccaagtgttt ctgtttcaag gaaggatgaa taagttttat
     1381 tgaaaatgtg gtaactttat ttaaaatgat ttttaacatt atgagagact gctcagattc
     1441 taagttgttg gccttgtgtg tgtgtttttt tttaagttct catcattatt acatagactg
     1501 tgatgtatct ttactggaaa tgagcccaag cacacatgca tggcatttgt tccacaggag
     1561 ggcatccctg gggatgtggc tggagcatga gccagctctg tcccaggatg gtcccagcgg
     1621 atgctgccag gggcagtgaa gtgtttaggt gaaggacaag taggtaagag gacgccttca
     1681 ggcaccacag ataagcctga aacagcctct ccaagggttt tcaccttagc aacaatggga
     1741 gctgtgggag tgattttggc cacactgtca acatttgtta gaaccagtct tttgaaagaa
     1801 aagtatttcc aacttgtcac ttgccagtca ctccgttttg caaaaggtgg cccttcactg
     1861 tccattccaa atagcccaca cgtgctctct gctggattct aaattatgtg aattttgcca
     1921 tattaaatct tcctcattta tactattatt tgttacgttc aatcagaatc cccgaaacct
     1981 cctataaagc ttagctgccc cttctgagga tgctgagaac ggtgtctttc tttataaatg
     2041 caaatggcta ccgttttaca ataaaatttt gcatgtgcca
//
LOCUS       NM_000116               1906 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens tafazzin, phospholipid-lysophospholipid transacylase
            (TAFAZZIN), transcript variant 1, mRNA.
ACCESSION   NM_000116
VERSION     NM_000116.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1906)
  AUTHORS   Yang J, Wu X, Wang J, Guo X, Chen J, Yang X, Zhong J, Li X and Deng
            Z.
  TITLE     Feedforward loop between IMP1 and YAP/TAZ promotes tumorigenesis and
            malignant progression in glioblastoma
  JOURNAL   Cancer Sci 114 (5), 2053-2062 (2023)
   PUBMED   36308276
REFERENCE   2  (bases 1 to 1906)
  AUTHORS   Cunningham R, Jia S, Purohit K, Salem O, Hui NS, Lin Y, Carragher NO
            and Hansen CG.
  TITLE     YAP/TAZ activation predicts clinical outcomes in mesothelioma and is
            conserved in in vitro model of driver mutations
  JOURNAL   Clin Transl Med 13 (2), e1190 (2023)
   PUBMED   36740402
REFERENCE   3  (bases 1 to 1906)
  AUTHORS   Liu X, Ye Y, Zhu L, Xiao X, Zhou B, Gu Y, Si H, Liang H, Liu M, Li
            J, Jiang Q, Li J, Yu S, Ma R, Su S, Liao JY and Zhao Q.
  TITLE     Niche stiffness sustains cancer stemness via TAZ and NANOG phase
            separation
  JOURNAL   Nat Commun 14 (1), 238 (2023)
   PUBMED   36646707
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1906)
  AUTHORS   Platek T, Sordyl M, Polus A, Olszanecka A, Kroczka S and Solnica B.
  TITLE     Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and
            X chromosome sequencing in the evaluation of the effect of mosaicism
            in the TAZ gene on phenotypes in a family affected by Barth syndrome
  JOURNAL   Mutat Res 826, 111812 (2023)
   PUBMED   36628843
  REMARK    GeneRIF: Analysis of tafazzin and deoxyribonuclease 1 like 1
            transcripts and X chromosome sequencing in the evaluation of the
            effect of mosaicism in the TAZ gene on phenotypes in a family
            affected by Barth syndrome.
REFERENCE   5  (bases 1 to 1906)
  AUTHORS   Gedeon AK, Wilson MJ, Colley AC, Sillence DO and Mulley JC.
  TITLE     X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly
            allelic to Barth syndrome
  JOURNAL   J Med Genet 32 (5), 383-388 (1995)
   PUBMED   7616547
REFERENCE   6  (bases 1 to 1906)
  AUTHORS   Christodoulou J, McInnes RR, Jay V, Wilson G, Becker LE, Lehotay DC,
            Platt BA, Bridge PJ, Robinson BH and Clarke JT.
  TITLE     Barth syndrome: clinical observations and genetic linkage studies
  JOURNAL   Am J Med Genet 50 (3), 255-264 (1994)
   PUBMED   8042670
REFERENCE   7  (bases 1 to 1906)
  AUTHORS   Bione S, Tamanini F, Maestrini E, Tribioli C, Poustka A, Torri G,
            Rivella S and Toniolo D.
  TITLE     Transcriptional organization of a 450-kb region of the human X
            chromosome in Xq28
  JOURNAL   Proc Natl Acad Sci U S A 90 (23), 10977-10981 (1993)
   PUBMED   8248200
REFERENCE   8  (bases 1 to 1906)
  AUTHORS   Ferreira,C., Pierre,G., Thompson,R. and Vernon,H.
  TITLE     Barth Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   25299040
REFERENCE   9  (bases 1 to 1906)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301486
REFERENCE   10  (bases 1 to 1906)
  AUTHORS   Fixler,D.E., Cole,R.B., Paul,M.H., Lev,M. and Girod,D.A.
  TITLE     Familial occurrence of the contracted form of endocardial
            fibroelastosis
  JOURNAL   Am J Cardiol 26 (2), 208-213 (1970)
   PUBMED   5455540
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.12572.1, X92762.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000601016.6/ ENSP00000469981.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL531401.3, X92762.1 and
            BC005062.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000116.4.
            Summary: This gene encodes a protein that is expressed at high
            levels in cardiac and skeletal muscle. Mutations in this gene have
            been associated with a number of clinical disorders including Barth
            syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM,
            endocardial fibroelastosis, and left ventricular noncompaction
            (LVNC). Multiple transcript variants encoding different isoforms
            have been described. A long form and a short form of each of these
            isoforms is produced; the short form lacks a hydrophobic leader
            sequence and may exist as a cytoplasmic protein rather than being
            membrane-bound. Other alternatively spliced transcripts have been
            described but the full-length nature of all these transcripts is
            not known. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the major isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1906
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1906
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /note="tafazzin, phospholipid-lysophospholipid
                     transacylase"
                     /db_xref="GeneID:6901"
                     /db_xref="HGNC:HGNC:11577"
                     /db_xref="MIM:300394"
     misc_feature    246..248
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /note="upstream in-frame stop codon"
     CDS             306..1184
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein G4.5"
                     /codon_start=1
                     /product="tafazzin isoform 1"
                     /protein_id="NP_000107.1"
                     /db_xref="CCDS:CCDS14748.1"
                     /db_xref="GeneID:6901"
                     /db_xref="HGNC:HGNC:11577"
                     /db_xref="MIM:300394"
                     /translation="MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVH
                     NREVLYELIEKRGPATPLITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICF
                     TKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQKGMD
                     FILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLP
                     NSPPYFPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQA
                     EQLHNHLQPGR"
     regulatory      1876..1881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /note="hexamer: CATAAA"
     polyA_site      1906
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /note="major polyA site"
ORIGIN
        1 gctttccggc ggttgcaccg ggccggggtg ccagcgcccg ccttcccgtt tcctcccgtt
       61 ccgcagcgcg cccacggcct gtgaccccgg cgaccgctcc ccagtgacga gagagcgggg
      121 ccgggcgctg ctccggcctg acctgcgaag ggacctcggt ccagtcccct gttgcgccgc
      181 gcccccgtcc gtccgtgcgc gggccagtca ggggccagtg tctcgagcgg tcgaggtcgc
      241 agacctagag gcgccccaca ggccggcccg gggcgctggg agcgccggcc gcgggccggg
      301 tggggatgcc tctgcacgtg aagtggccgt tccccgcggt gccgccgctc acctggaccc
      361 tggccagcag cgtcgtcatg ggcttggtgg gcacctacag ctgcttctgg accaagtaca
      421 tgaaccacct gaccgtgcac aacagggagg tgctgtacga gctcatcgag aagcgaggcc
      481 cggccacgcc cctcatcacc gtgtccaatc accagtcctg catggacgac cctcatctct
      541 gggggatcct gaaactccgc cacatctgga acctgaagtt gatgcgttgg acccctgcag
      601 ctgcagacat ctgcttcacc aaggagctac actcccactt cttcagcttg ggcaagtgtg
      661 tgcctgtgtg ccgaggagca gaatttttcc aagcagagaa tgaggggaaa ggtgttctag
      721 acacaggcag gcacatgcca ggtgctggaa aaagaagaga gaaaggagat ggcgtctacc
      781 agaaggggat ggacttcatt ttggagaagc tcaaccatgg ggactgggtg catatcttcc
      841 cagaagggaa agtgaacatg agttccgaat tcctgcgttt caagtgggga atcgggcgcc
      901 tgattgctga gtgtcatctc aaccccatca tcctgcccct gtggcatgtc ggaatgaatg
      961 acgtccttcc taacagtccg ccctacttcc cccgctttgg acagaaaatc actgtgctga
     1021 tcgggaagcc cttcagtgcc ctgcctgtac tcgagcggct ccgggcggag aacaagtcgg
     1081 ctgtggagat gcggaaagcc ctgacggact tcattcaaga ggaattccag catctgaaga
     1141 ctcaggcaga gcagctccac aaccacctcc agcctgggag ataggccttg cttgctgcct
     1201 tctggattct tggcccgcac agagctgggg ctgagggatg gactgatgct tttagctcaa
     1261 acgtggcttt tagacagatt tgttcataga ccctctcaag tgccctctcc gagctggtag
     1321 gcattccagc tcctccgtgc ttcctcagtt acacaaagga cctcagctgc ttctcccact
     1381 tggccaagca gggaggaaga agcttaggca gggctctctt tccttcttgc cttcagatgt
     1441 tctctcccag gggctggctt caggagggag catagaaggc aggtgagcaa ccagttggct
     1501 aggggagcag ggggcccacc agagctgtgg agaggggacc ctaagactcc tcggcctggc
     1561 tcctacccac cgcccttgcc gaaccaggag ctgctcacta cctcctcagg gatggccgtt
     1621 ggccacgtct tccttctgcc tgagcttccc ccccaccaca ggccctttcc tcaggcaagg
     1681 tctggcctca ggtgggccgc aggcgggaaa agcagccctt ggccagaagt caagcccagc
     1741 cacgtggagc ctagagtgag ggcctgaggt ctggctgctt gcccccatgc tggcgccaac
     1801 aacttctcca tcctttctgc ctctcaacat cacttgaatc ctagggcctg ggttttcatg
     1861 tttttgaaac agaaccataa agcatatgtg ttggcttgtt gtaaaa
//
LOCUS       NM_000117               1281 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens emerin (EMD), mRNA.
ACCESSION   NM_000117
VERSION     NM_000117.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1281)
  AUTHORS   Jin Q, Pandey D, Thompson CB, Lewis S, Sung HW, Nguyen TD, Kuo S,
            Wilson KL, Gracias DH and Romer LH.
  TITLE     Acute downregulation of emerin alters actomyosin cytoskeleton
            connectivity and function
  JOURNAL   Biophys J 122 (18), 3690-3703 (2023)
   PUBMED   37254483
  REMARK    GeneRIF: Acute downregulation of emerin alters actomyosin
            cytoskeleton connectivity and function.
REFERENCE   2  (bases 1 to 1281)
  AUTHORS   Snyers L, Lohnert R, Weipoltshammer K and Schofer C.
  TITLE     Emerin prevents BAF-mediated aggregation of lamin A on chromosomes
            in telophase to allow nuclear membrane expansion and nuclear lamina
            formation
  JOURNAL   Mol Biol Cell 33 (14), ar137 (2022)
   PUBMED   36200863
  REMARK    GeneRIF: Emerin prevents BAF-mediated aggregation of lamin A on
            chromosomes in telophase to allow nuclear membrane expansion and
            nuclear lamina formation.
REFERENCE   3  (bases 1 to 1281)
  AUTHORS   Zhang C, Cui J, Cao L, Tian X, Miao Y, Wang Y, Qiu S, Guo W, Ma L,
            Xia J and Zhang X.
  TITLE     ISGylation of EMD promotes its interaction with PDHA to inhibit
            aerobic oxidation in lung adenocarcinoma
  JOURNAL   J Cell Mol Med 26 (19), 5078-5094 (2022)
   PUBMED   36071546
  REMARK    GeneRIF: ISGylation of EMD promotes its interaction with PDHA to
            inhibit aerobic oxidation in lung adenocarcinoma.
REFERENCE   4  (bases 1 to 1281)
  AUTHORS   Wu KY, Xie H, Zhang ZL, Li ZX, Shi L, Zhou W, Zeng J, Tian Z, Zhang
            Y, Ding YB and Shen WG.
  TITLE     Emerin knockdown induces the migration and invasion of
            hepatocellular carcinoma cells by up-regulating the cytoplasmic p21
  JOURNAL   Neoplasma 69 (1), 59-70 (2022)
   PUBMED   34734530
  REMARK    GeneRIF: Emerin knockdown induces the migration and invasion of
            hepatocellular carcinoma cells by up-regulating the cytoplasmic p21.
REFERENCE   5  (bases 1 to 1281)
  AUTHORS   Argon A, Dal G and Salman T.
  TITLE     Immunohistochemical Expression of Emerin in Renal Cell Carcinomas:
            Does It Contribute to Histopathological Features and WHO/ISUP
            Grading in Predicting Prognosis?
  JOURNAL   J Environ Pathol Toxicol Oncol 40 (2), 89-98 (2021)
   PUBMED   33822520
  REMARK    GeneRIF: Immunohistochemical Expression of Emerin in Renal Cell
            Carcinomas: Does It Contribute to Histopathological Features and
            WHO/ISUP Grading in Predicting Prognosis?
REFERENCE   6  (bases 1 to 1281)
  AUTHORS   Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK,
            Tsukahara T and Arahata K.
  TITLE     Emerin deficiency at the nuclear membrane in patients with
            Emery-Dreifuss muscular dystrophy
  JOURNAL   Nat Genet 12 (3), 254-259 (1996)
   PUBMED   8589715
REFERENCE   7  (bases 1 to 1281)
  AUTHORS   Bione S, Small K, Aksmanovic VM, D'Urso M, Ciccodicola A, Merlini L,
            Morandi L, Kress W, Yates JR, Warren ST et al.
  TITLE     Identification of new mutations in the Emery-Dreifuss muscular
            dystrophy gene and evidence for genetic heterogeneity of the disease
  JOURNAL   Hum Mol Genet 4 (10), 1859-1863 (1995)
   PUBMED   8595407
REFERENCE   8  (bases 1 to 1281)
  AUTHORS   Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G and
            Toniolo D.
  TITLE     Identification of a novel X-linked gene responsible for
            Emery-Dreifuss muscular dystrophy
  JOURNAL   Nat Genet 8 (4), 323-327 (1994)
   PUBMED   7894480
REFERENCE   9  (bases 1 to 1281)
  AUTHORS   Bione S, Tamanini F, Maestrini E, Tribioli C, Poustka A, Torri G,
            Rivella S and Toniolo D.
  TITLE     Transcriptional organization of a 450-kb region of the human X
            chromosome in Xq28
  JOURNAL   Proc Natl Acad Sci U S A 90 (23), 10977-10981 (1993)
   PUBMED   8248200
REFERENCE   10  (bases 1 to 1281)
  AUTHORS   Bonne,G., Leturcq,F. and Ben Yaou,R.
  TITLE     Emery-Dreifuss Muscular Dystrophy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301609
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC000738.2, X82434.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369842.9/ ENSP00000358857.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CX781694.1 and BC000738.2.
            On Aug 31, 2019 this sequence version replaced NM_000117.2.
            Summary: Emerin is a serine-rich nuclear membrane protein and a
            member of the nuclear lamina-associated protein family. It mediates
            membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular
            dystrophy is an X-linked inherited degenerative myopathy resulting
            from mutation in the emerin gene. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1281
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1281
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="emerin"
                     /db_xref="GeneID:2010"
                     /db_xref="HGNC:HGNC:3331"
                     /db_xref="MIM:300384"
     misc_feature    146..148
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="upstream in-frame stop codon"
     CDS             191..955
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="LEM domain containing 5"
                     /codon_start=1
                     /product="emerin"
                     /protein_id="NP_000108.1"
                     /db_xref="CCDS:CCDS14745.1"
                     /db_xref="GeneID:2010"
                     /db_xref="HGNC:HGNC:3331"
                     /db_xref="MIM:300384"
                     /translation="MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQR
                     RRLSPPSSSAASSYSFSDLNSTRGDADMYDLPKKEDALLYQSKGYNDDYYEESYFTTRT
                     YGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSAYQS
                     ITHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLGQDRQ
                     VPLWGQLLLFLVFVIVLFFIYHFMQAEEGNPF"
     misc_feature    191..193
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.11,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P50402.1); acetylation site"
     misc_feature    212..214
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P50402.1); phosphorylation site"
     misc_feature    275..277
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P50402.1); phosphorylation site"
     misc_feature    326..856
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="propagated from UniProtKB/Swiss-Prot (P50402.1);
                     Region: Interaction with F-actin. /evidence=ECO:0000305"
     misc_feature    335..337
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:16972941,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P50402.1); phosphorylation site"
     misc_feature    350..352
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P50402.1); phosphorylation site"
     misc_feature    368..370
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P50402.1);
                     phosphorylation site"
     misc_feature    449..451
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P50402.1); phosphorylation site"
     misc_feature    482..484
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P50402.1); phosphorylation site"
     misc_feature    611..613
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q63190; propagated from
                     UniProtKB/Swiss-Prot (P50402.1); phosphorylation site"
     misc_feature    614..616
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q63190; propagated from
                     UniProtKB/Swiss-Prot (P50402.1); phosphorylation site"
     misc_feature    617..619
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q63190; propagated from
                     UniProtKB/Swiss-Prot (P50402.1); phosphorylation site"
     misc_feature    671..673
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:O08579; propagated from
                     UniProtKB/Swiss-Prot (P50402.1); phosphorylation site"
     misc_feature    692..748
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="propagated from UniProtKB/Swiss-Prot (P50402.1);
                     Region: Interaction with CTNNB1.
                     /evidence=ECO:0000269|PubMed:16858403"
     misc_feature    701..703
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P50402.1); phosphorylation site"
     misc_feature    707..709
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P50402.1); phosphorylation site"
     misc_feature    713..715
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O08579; propagated from
                     UniProtKB/Swiss-Prot (P50402.1); phosphorylation site"
     misc_feature    857..919
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="propagated from UniProtKB/Swiss-Prot (P50402.1);
                     transmembrane region"
     regulatory      1258..1263
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="hexamer: AATAAA"
     polyA_site      1281
                     /gene="EMD"
                     /gene_synonym="EDMD; LEMD5; STA"
                     /note="major polyA site"
ORIGIN
        1 agcctgcgga gccagcggcc gtgacgcgac aacgattcgg ctgtgacgcg acaacgattc
       61 ggctgtgacg cgagcgcggc cgctcccgat gcgctcgtgc cgcccccgcc gtgctcctcg
      121 gcagccgttg ctcggccggt tttggtaggc ccgggccgcc gccaggcctc cgcctgagcc
      181 cgcacccgcc atggacaact acgcagatct ttcggatacc gagctgacca ccttgctgcg
      241 ccggtacaac atcccgcacg ggcctgtagt aggatcaact cgtaggcttt acgagaagaa
      301 gatcttcgag tacgagaccc agaggcggcg gctctcgccc cccagctcgt ccgccgcctc
      361 ctcttatagc ttctctgact tgaattcgac tagaggggat gcagatatgt atgatcttcc
      421 caagaaagag gacgctttac tctaccagag caagggctac aatgacgact actatgaaga
      481 gagctacttc accaccagga cttatgggga gcccgagtct gccggcccgt ccagggctgt
      541 ccgccagtca gtgacttcat tcccagatgc tgacgctttc catcaccagg tgcatgatga
      601 cgatcttttg tcttcttctg aagaggagtg caaggatagg gaacgcccca tgtacggccg
      661 ggacagtgcc taccagagca tcacgcacta ccgccctgtt tcagcctcca ggagctccct
      721 ggacctgtcc tattatccta cttcctcctc cacctctttt atgtcctcct catcatcttc
      781 ctcttcatgg ctcacccgcc gtgccatccg gcctgaaaac cgtgctcctg gggctgggct
      841 gggccaggat cgccaggtcc cgctctgggg ccagctgctg cttttcctgg tctttgtgat
      901 cgtcctcttc ttcatttacc acttcatgca ggctgaagaa ggcaacccct tctagaggga
      961 gccatgaggg tctgggcttc agagctaggt ctttggggaa gtcctggctg actgccttag
     1021 cagtgggggt gggggtgggg gcaggggcag gggctttatg tgtttttgct tggggggcgc
     1081 tgggcctagc ccagagtagt gcttgctccc cctgccttgt cccaccaggg aggcagcaga
     1141 ctcaggccct ccatggtcct ctttgtcatt ttgttgacat gcattcctcc ttttgtcatc
     1201 ttgttggggg gaggggatta accaaaggcc accctgactt tgtttttgtg gacacacaat
     1261 aaaagccccg tttatttgta a
//
LOCUS       NM_000121               2411 bp    mRNA    linear   PRI 15-MAR-2023
DEFINITION  Homo sapiens erythropoietin receptor (EPOR), transcript variant 1,
            mRNA.
ACCESSION   NM_000121
VERSION     NM_000121.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2411)
  AUTHORS   Han C, Liu Y, Wu YY and Yang B.
  TITLE     [Update on the role and mechanism of erythropoietin receptor in
            acute kidney injury and repair or fibrosis]
  JOURNAL   Sheng Li Xue Bao 75 (1), 115-129 (2023)
   PUBMED   36859841
  REMARK    GeneRIF: [Update on the role and mechanism of erythropoietin
            receptor in acute kidney injury and repair or fibrosis]. Review
            article
REFERENCE   2  (bases 1 to 2411)
  AUTHORS   Takeda J, Yoshida K, Nakagawa MM, Nannya Y, Yoda A, Saiki R, Ochi Y,
            Zhao L, Okuda R, Qi X, Mori T, Kon A, Chiba K, Tanaka H, Shiraishi
            Y, Kuo MC, Kerr CM, Nagata Y, Morishita D, Hiramoto N, Hangaishi A,
            Nakazawa H, Ishiyama K, Miyano S, Chiba S, Miyazaki Y, Kitano T,
            Usuki K, Sezaki N, Tsurumi H, Miyawaki S, Maciejewski JP, Ishikawa
            T, Ohyashiki K, Ganser A, Heuser M, Thol F, Shih LY, Takaori-Kondo
            A, Makishima H and Ogawa S.
  TITLE     Amplified EPOR/JAK2 Genes Define a Unique Subtype of Acute Erythroid
            Leukemia
  JOURNAL   Blood Cancer Discov 3 (5), 410-427 (2022)
   PUBMED   35839275
  REMARK    GeneRIF: Amplified EPOR/JAK2 Genes Define a Unique Subtype of Acute
            Erythroid Leukemia.
REFERENCE   3  (bases 1 to 2411)
  AUTHORS   Echambadi Loganathan S, Kattaru S, Chandrasekhar C, Vengamma B and
            Sarma PVGK.
  TITLE     Novel mutations in EPO-R and oxygen-dependent degradation (ODD)
            domain of EPAS1 genes-a causative reason for Congenital
            Erythrocytosis
  JOURNAL   Eur J Med Genet 65 (6), 104493 (2022)
   PUBMED   35395428
  REMARK    GeneRIF: Novel mutations in EPO-R and oxygen-dependent degradation
            (ODD) domain of EPAS1 genes-a causative reason for Congenital
            Erythrocytosis.
REFERENCE   4  (bases 1 to 2411)
  AUTHORS   Bento,C., McMullin,M.F., Percy,M. and Cario,H.
  TITLE     Primary Familial and Congenital Polycythemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   27831681
REFERENCE   5  (bases 1 to 2411)
  AUTHORS   Nakamura Y, Komatsu N and Nakauchi H.
  TITLE     A truncated erythropoietin receptor that fails to prevent programmed
            cell death of erythroid cells
  JOURNAL   Science 257 (5073), 1138-1141 (1992)
   PUBMED   1324524
REFERENCE   6  (bases 1 to 2411)
  AUTHORS   Yoshimura A and Lodish HF.
  TITLE     In vitro phosphorylation of the erythropoietin receptor and an
            associated protein, pp130
  JOURNAL   Mol Cell Biol 12 (2), 706-715 (1992)
   PUBMED   1310150
REFERENCE   7  (bases 1 to 2411)
  AUTHORS   Penny LA and Forget BG.
  TITLE     Genomic organization of the human erythropoietin receptor gene
  JOURNAL   Genomics 11 (4), 974-980 (1991)
   PUBMED   1664413
REFERENCE   8  (bases 1 to 2411)
  AUTHORS   Maouche L, Tournamille C, Hattab C, Boffa G, Cartron JP and Chretien
            S.
  TITLE     Cloning of the gene encoding the human erythropoietin receptor
  JOURNAL   Blood 78 (10), 2557-2563 (1991)
   PUBMED   1668607
REFERENCE   9  (bases 1 to 2411)
  AUTHORS   Ehrenman K and St John T.
  TITLE     The erythropoietin receptor gene: cloning and identification of
            multiple transcripts in an erythroid cell line OCIM1
  JOURNAL   Exp Hematol 19 (9), 973-977 (1991)
   PUBMED   1654273
REFERENCE   10  (bases 1 to 2411)
  AUTHORS   Jones SS, D'Andrea AD, Haines LL and Wong GG.
  TITLE     Human erythropoietin receptor: cloning, expression, and biologic
            characterization
  JOURNAL   Blood 76 (1), 31-35 (1990)
   PUBMED   2163696
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M60459.1, BC112153.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000222139.11/ ENSP00000222139.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC019092.2, M60459.1,
            AC024575.6 and BU619338.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000121.3.
            Summary: This gene encodes the erythropoietin receptor which is a
            member of the cytokine receptor family. Upon erythropoietin
            binding, this receptor activates Jak2 tyrosine kinase which
            activates different intracellular pathways including: Ras/MAP
            kinase, phosphatidylinositol 3-kinase and STAT transcription
            factors. The stimulated erythropoietin receptor appears to have a
            role in erythroid cell survival. Defects in the erythropoietin
            receptor may produce erythroleukemia and familial erythrocytosis.
            Dysregulation of this gene may affect the growth of certain tumors.
            Alternate splicing results in multiple transcript
            variants.[provided by RefSeq, May 2010].
            Transcript Variant: This variant (1) encodes the functional
            protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2411
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..2411
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="erythropoietin receptor"
                     /db_xref="GeneID:2057"
                     /db_xref="HGNC:HGNC:3416"
                     /db_xref="MIM:133171"
     misc_feature    30..32
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="upstream in-frame stop codon"
     CDS             108..1634
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /codon_start=1
                     /product="erythropoietin receptor precursor"
                     /protein_id="NP_000112.1"
                     /db_xref="CCDS:CCDS12260.1"
                     /db_xref="GeneID:2057"
                     /db_xref="HGNC:HGNC:3416"
                     /db_xref="MIM:133171"
                     /translation="MDHLGASLWPQVGSLCLLLAGAAWAPPPNLPDPKFESKAALLAAR
                     GPEELLCFTERLEDLVCFWEEAASAGVGPGNYSFSYQLEDEPWKLCRLHQAPTARGAVR
                     FWCSLPTADTSSFVPLELRVTAASGAPRYHRVIHINEVVLLDAPVGLVARLADESGHVV
                     LRWLPPPETPMTSHIRYEVDVSAGNGAGSVQRVEILEGRTECVLSNLRGRTRYTFAVRA
                     RMAEPSFGGFWSAWSEPVSLLTPSDLDPLILTLSLILVVILVLLTVLALLSHRRALKQK
                     IWPGIPSPESEFEGLFTTHKGNFQLWLYQNDGCLWWSPCTPFTEDPPASLEVLSERCWG
                     TMQAVEPGTDDEGPLLEPVGSEHAQDTYLVLDKWLLPRNPPSEDLPGPGGSVDIVAMDE
                     GSEASSCSSALASKPSPEGASAASFEYTILDPSSQLLRPWTLCPELPPTPPHLKYLYLV
                     VSDSGISTDYSSGDSQGAQGGLSDGPYSNPYENSLIPAAEPLPPSYVACS"
     sig_peptide     108..179
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P19235.1)"
     mat_peptide     180..1631
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /product="Erythropoietin receptor. /id=PRO_0000010868"
                     /note="propagated from UniProtKB/Swiss-Prot (P19235.1)"
     misc_feature    333..335
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P19235.1); glycosylation site"
     misc_feature    456..458
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="Required for ligand binding; propagated from
                     UniProtKB/Swiss-Prot (P19235.1); other site"
     misc_feature    804..818
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P19235.1);
                     Region: WSXWS motif"
     misc_feature    858..926
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P19235.1);
                     transmembrane region"
     misc_feature    951..977
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P19235.1);
                     Region: Box 1 motif"
     misc_feature    1209..1211
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="Interaction with APS and STAT5, and activation.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P19235.1); other site"
     misc_feature    1209..1211
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="Phosphotyrosine, by JAK2.
                     /evidence=ECO:0000250|UniProtKB:P14753; propagated from
                     UniProtKB/Swiss-Prot (P19235.1); phosphorylation site"
     misc_feature    1383..1385
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="Phosphotyrosine, by JAK2.
                     /evidence=ECO:0000250|UniProtKB:P14753; propagated from
                     UniProtKB/Swiss-Prot (P19235.1); phosphorylation site"
     misc_feature    1383..1385
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="Required for STAT5/PTPN11/SOCS3 binding.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P19235.1); other site"
     misc_feature    1461..1478
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P19235.1);
                     Region: ITIM motif"
     misc_feature    1467..1475
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P19235.1);
                     Region: Required for high-affinity SOCS3 binding"
     misc_feature    1467..1469
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="Interaction with PTPN6. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P19235.1); other
                     site"
     misc_feature    1467..1469
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="Phosphotyrosine, by JAK2.
                     /evidence=ECO:0000250|UniProtKB:P14753; propagated from
                     UniProtKB/Swiss-Prot (P19235.1); phosphorylation site"
     misc_feature    1473..1475
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="Phosphotyrosine, by JAK2.
                     /evidence=ECO:0000250|UniProtKB:P14753; propagated from
                     UniProtKB/Swiss-Prot (P19235.1); phosphorylation site"
     misc_feature    1473..1475
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="Required for STAT1/STAT3 activation; propagated from
                     UniProtKB/Swiss-Prot (P19235.1); other site"
     misc_feature    1506..1589
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P19235.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1509..1511
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="Phosphotyrosine, by JAK2.
                     /evidence=ECO:0000250|UniProtKB:P14753; propagated from
                     UniProtKB/Swiss-Prot (P19235.1); phosphorylation site"
     misc_feature    1560..1562
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="Phosphotyrosine, by JAK2.
                     /evidence=ECO:0000250|UniProtKB:P14753; propagated from
                     UniProtKB/Swiss-Prot (P19235.1); phosphorylation site"
     misc_feature    1560..1562
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="Required for CrkL binding. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P19235.1); other
                     site"
     misc_feature    1572..1574
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="Phosphotyrosine, by JAK2.
                     /evidence=ECO:0000250|UniProtKB:P14753; propagated from
                     UniProtKB/Swiss-Prot (P19235.1); phosphorylation site"
     misc_feature    1617..1619
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="Phosphotyrosine, by JAK2.
                     /evidence=ECO:0000250|UniProtKB:P14753; propagated from
                     UniProtKB/Swiss-Prot (P19235.1); phosphorylation site"
     regulatory      2036..2041
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="hexamer: ATTAAA"
     polyA_site      2058
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="major polyA site"
     regulatory      2390..2395
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
                     /note="hexamer: AATAAA"
     polyA_site      2411
                     /gene="EPOR"
                     /gene_synonym="EPO-R"
ORIGIN
        1 ggtcagctgc gtccggcgga ggcagctgct gacccagctg tggactgtgc cgggggcggg
       61 ggacggaggg gcaggagccc tgggctcccc gtggcggggg ctgtatcatg gaccacctcg
      121 gggcgtccct ctggccccag gtcggctccc tttgtctcct gctcgctggg gccgcctggg
      181 cgcccccgcc taacctcccg gaccccaagt tcgagagcaa agcggccttg ctggcggccc
      241 gggggcccga agagcttctg tgcttcaccg agcggttgga ggacttggtg tgtttctggg
      301 aggaagcggc gagcgctggg gtgggcccgg gcaactacag cttctcctac cagctcgagg
      361 atgagccatg gaagctgtgt cgcctgcacc aggctcccac ggctcgtggt gcggtgcgct
      421 tctggtgttc gctgcctaca gccgacacgt cgagcttcgt gcccctagag ttgcgcgtca
      481 cagcagcctc cggcgctccg cgatatcacc gtgtcatcca catcaatgaa gtagtgctcc
      541 tagacgcccc cgtggggctg gtggcgcggt tggctgacga gagcggccac gtagtgttgc
      601 gctggctccc gccgcctgag acacccatga cgtctcacat ccgctacgag gtggacgtct
      661 cggccggcaa cggcgcaggg agcgtacaga gggtggagat cctggagggc cgcaccgagt
      721 gtgtgctgag caacctgcgg ggccggacgc gctacacctt cgccgtccgc gcgcgtatgg
      781 ctgagccgag cttcggcggc ttctggagcg cctggtcgga gcctgtgtcg ctgctgacgc
      841 ctagcgacct ggaccccctc atcctgacgc tctccctcat cctcgtggtc atcctggtgc
      901 tgctgaccgt gctcgcgctg ctctcccacc gccgggctct gaagcagaag atctggcctg
      961 gcatcccgag cccagagagc gagtttgaag gcctcttcac cacccacaag ggtaacttcc
     1021 agctgtggct gtaccagaat gatggctgcc tgtggtggag cccctgcacc cccttcacgg
     1081 aggacccacc tgcttccctg gaagtcctct cagagcgctg ctgggggacg atgcaggcag
     1141 tggagccggg gacagatgat gagggccccc tgctggagcc agtgggcagt gagcatgccc
     1201 aggataccta tctggtgctg gacaaatggt tgctgccccg gaacccgccc agtgaggacc
     1261 tcccagggcc tggtggcagt gtggacatag tggccatgga tgaaggctca gaagcatcct
     1321 cctgctcatc tgctttggcc tcgaagccca gcccagaggg agcctctgct gccagctttg
     1381 agtacactat cctggacccc agctcccagc tcttgcgtcc atggacactg tgccctgagc
     1441 tgccccctac cccaccccac ctaaagtacc tgtaccttgt ggtatctgac tctggcatct
     1501 caactgacta cagctcaggg gactcccagg gagcccaagg gggcttatcc gatggcccct
     1561 actccaaccc ttatgagaac agccttatcc cagccgctga gcctctgccc cccagctatg
     1621 tggcttgctc ttaggacacc aggctgcaga tgatcaggga tccaatatga ctcagagaac
     1681 cagtgcagac tcaagactta tggaacaggg atggcgaggc ctctctcagg agcaggggca
     1741 ttgctgattt tgtctgccca atccatcctg ctcaggaaac cacaaccttg cagtattttt
     1801 aaatatgtat agtttttttt tgtatctata tatatatata cacatatgta tgtaagtttt
     1861 tctaccatga tttctacaaa caccctttaa gtcccatctt cccctgggca taggccatag
     1921 ggatagaagt taaagttctt gagcttattc agaagctgga tctgcaatct gaatgctact
     1981 cataacataa caaaatagta tgttaaacag ctcttaaatc ttactggctt accacattaa
     2041 atgatttctc tctcctaact cagctcaaat gggcagccat ccatgggatg agtcagaggt
     2101 tcagactctt ccagtctgta gctctacctt ctcttagggt acttagatgg atcccctgtt
     2161 ctacaaactg ccagtcagca agggaagaaa aagggcagca atgaccctca atgggccatt
     2221 tgagggatct ggcctggaaa tgggcttcct ctcttcttct cacacctcac tggctggaaa
     2281 cagtcacatg accccagtca catgaaaggc caggaaactt agtttagctg tacacccagg
     2341 aagggcaaag ctgtttaagg gccactagct agtctctgcc actaataata ataaaagtaa
     2401 ttctgaatca g
//
LOCUS       NM_000122               2718 bp    mRNA    linear   PRI 26-MAR-2023
DEFINITION  Homo sapiens ERCC excision repair 3, TFIIH core complex helicase
            subunit (ERCC3), transcript variant 1, mRNA.
ACCESSION   NM_000122
VERSION     NM_000122.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2718)
  AUTHORS   Bao X, Chen Y, Lou X, Du J, Li H, Liu N, Tang Z, Hua J, Guo W and
            Liu SB.
  TITLE     Comprehensive analysis of ERCC3 prognosis value and ceRNA network in
            AML
  JOURNAL   Clin Transl Oncol 25 (4), 1053-1066 (2023)
   PUBMED   36472749
  REMARK    GeneRIF: Comprehensive analysis of ERCC3 prognosis value and ceRNA
            network in AML.
REFERENCE   2  (bases 1 to 2718)
  AUTHORS   Santana JF, Collins GS, Parida M, Luse DS and Price DH.
  TITLE     Differential dependencies of human RNA polymerase II promoters on
            TBP, TAF1, TFIIB and XPB
  JOURNAL   Nucleic Acids Res 50 (16), 9127-9148 (2022)
   PUBMED   35947745
  REMARK    GeneRIF: Differential dependencies of human RNA polymerase II
            promoters on TBP, TAF1, TFIIB and XPB.
REFERENCE   3  (bases 1 to 2718)
  AUTHORS   Chauhan AK, Li P, Sun Y, Wani G, Zhu Q and Wani AA.
  TITLE     Spironolactone-induced XPB degradation requires TFIIH integrity and
            ubiquitin-selective segregase VCP/p97
  JOURNAL   Cell Cycle 20 (1), 81-95 (2021)
   PUBMED   33381997
  REMARK    GeneRIF: Spironolactone-induced XPB degradation requires TFIIH
            integrity and ubiquitin-selective segregase VCP/p97.
REFERENCE   4  (bases 1 to 2718)
  AUTHORS   Stradella A, Del Valle J, Rofes P, Vargas-Parra G, Salinas M,
            Gonzalez S, Montes E, Lopez-Doriga A, Gomez C, de Cid R, Darder E,
            Teule A, Solanes A, Munte E, Capella G, Pineda M, Feliubadalo L,
            Brunet J and Lazaro C.
  TITLE     ERCC3, a new ovarian cancer susceptibility gene?
  JOURNAL   Eur J Cancer 141, 1-8 (2020)
   PUBMED   33125943
  REMARK    GeneRIF: ERCC3, a new ovarian cancer susceptibility gene?
REFERENCE   5  (bases 1 to 2718)
  AUTHORS   Kraemer,K.H., DiGiovanna,J.J. and Tamura,D.
  TITLE     Xeroderma Pigmentosum
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301571
REFERENCE   6  (bases 1 to 2718)
  AUTHORS   Ma L, Weeda G, Jochemsen AG, Bootsma D, Hoeijmakers JH and van der
            Eb AJ.
  TITLE     Molecular and functional analysis of the XPBC/ERCC-3 promoter:
            transcription activity is dependent on the integrity of an
            Sp1-binding site
  JOURNAL   Nucleic Acids Res 20 (2), 217-224 (1992)
   PUBMED   1741247
REFERENCE   7  (bases 1 to 2718)
  AUTHORS   Weeda G, Ma LB, van Ham RC, van der Eb AJ and Hoeijmakers JH.
  TITLE     Structure and expression of the human XPBC/ERCC-3 gene involved in
            DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome
  JOURNAL   Nucleic Acids Res 19 (22), 6301-6308 (1991)
   PUBMED   1956789
REFERENCE   8  (bases 1 to 2718)
  AUTHORS   Jacob GA, Luse SW and Luse DS.
  TITLE     Abortive initiation is increased only for the weakest members of a
            set of down mutants of the adenovirus 2 major late promoter
  JOURNAL   J Biol Chem 266 (33), 22537-22544 (1991)
   PUBMED   1939271
REFERENCE   9  (bases 1 to 2718)
  AUTHORS   Weeda G, Wiegant J, van der Ploeg M, Geurts van Kessel AH, van der
            Eb AJ and Hoeijmakers JH.
  TITLE     Localization of the xeroderma pigmentosum group B-correcting gene
            ERCC3 to human chromosome 2q21
  JOURNAL   Genomics 10 (4), 1035-1040 (1991)
   PUBMED   1916809
REFERENCE   10  (bases 1 to 2718)
  AUTHORS   Weeda G, van Ham RC, Vermeulen W, Bootsma D, van der Eb AJ and
            Hoeijmakers JH.
  TITLE     A presumed DNA helicase encoded by ERCC-3 is involved in the human
            repair disorders xeroderma pigmentosum and Cockayne's syndrome
  JOURNAL   Cell 62 (4), 777-791 (1990)
   PUBMED   2167179
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M31899.1, BC008820.2 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000285398.7/ ENSP00000285398.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M31899.1.
            On Aug 31, 2019 this sequence version replaced NM_000122.1.
            Summary: This gene encodes an ATP-dependent DNA helicase that
            functions in nucleotide excision repair. The encoded protein is a
            subunit of basal transcription factor 2 (TFIIH) and, therefore,
            also functions in class II transcription. Mutations in this gene
            are associated with Xeroderma pigmentosum B, Cockayne's syndrome,
            and trichothiodystrophy. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Dec 2014].
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2718
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.3"
     gene            1..2718
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /note="ERCC excision repair 3, TFIIH core complex helicase
                     subunit"
                     /db_xref="GeneID:2071"
                     /db_xref="HGNC:HGNC:3435"
                     /db_xref="MIM:133510"
     misc_feature    9
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /note="major transcription start point; other site"
     CDS             64..2412
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /EC_number="3.6.4.12"
                     /note="isoform a is encoded by transcript variant 1;
                     xeroderma pigmentosum, complementation group B; TFIIH basal
                     transcription factor complex helicase XPB subunit; TFIIH
                     p89; excision repair cross-complementing rodent repair
                     deficiency, complementation group 3; TFIIH 89 kDa subunit;
                     DNA repair helicase; DNA excision repair protein ERCC-3;
                     DNA repair protein complementing XP-B cells; basic
                     transcription factor 2 89 kDa subunit; xeroderma
                     pigmentosum group B-complementing protein; TFIIH subunit
                     XPB; TFIIH basal transcription factor complex 89 kDa
                     subunit; BTF2 p89; excision repair cross-complementation
                     group 3; general transcription and DNA repair factor IIH
                     helicase subunit XPB"
                     /codon_start=1
                     /product="general transcription and DNA repair factor IIH
                     helicase subunit XPB isoform a"
                     /protein_id="NP_000113.1"
                     /db_xref="CCDS:CCDS2144.1"
                     /db_xref="GeneID:2071"
                     /db_xref="HGNC:HGNC:3435"
                     /db_xref="MIM:133510"
                     /translation="MGKRDRADRDKKKSRKRHYEDEEDDEEDAPGNDPQEAVPSAAGKQ
                     VDESGTKVDEYGAKDYRLQMPLKDDHTSRPLWVAPDGHIFLEAFSPVYKYAQDFLVAIA
                     EPVCRPTHVHEYKLTAYSLYAAVSVGLQTSDITEYLRKLSKTGVPDGIMQFIKLCTVSY
                     GKVKLVLKHNRYFVESCHPDVIQHLLQDPVIRECRLRNSEGEATELITETFTSKSAISK
                     TAESSGGPSTSRVTDPQGKSDIPMDLFDFYEQMDKDEEEEEETQTVSFEVKQEMIEELQ
                     KRCIHLEYPLLAEYDFRNDSVNPDINIDLKPTAVLRPYQEKSLRKMFGNGRARSGVIVL
                     PCGAGKSLVGVTAACTVRKRCLVLGNSAVSVEQWKAQFKMWSTIDDSQICRFTSDAKDK
                     PIGCSVAISTYSMLGHTTKRSWEAERVMEWLKTQEWGLMILDEVHTIPAKMFRRVLTIV
                     QAHCKLGLTATLVREDDKIVDLNFLIGPKLYEANWMELQNNGYIAKVQCAEVWCPMSPE
                     FYREYVAIKTKKRILLYTMNPNKFRACQFLIKFHERRNDKIIVFADNVFALKEYAIRLN
                     KPYIYGPTSQGERMQILQNFKHNPKINTIFISKVGDTSFDLPEANVLIQISSHGGSRRQ
                     EAQRLGRVLRAKKGMVAEEYNAFFYSLVSQDTQEMAYSTKRQRFLVDQGYSFKVITKLA
                     GMEEEDLAFSTKEEQQQLLQKVLAATDLDAEEEVVAGEFGSRSSQASRRFGTMSSMSGA
                     DDTVYMEYHSSRSKAPSKHVHPLFKRFRK"
     misc_feature    64..216
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /note="propagated from UniProtKB/Swiss-Prot (P19447.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    79..117
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /note="propagated from UniProtKB/Swiss-Prot (P19447.1);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     misc_feature    715..786
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /note="propagated from UniProtKB/Swiss-Prot (P19447.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1384..1395
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /note="propagated from UniProtKB/Swiss-Prot (P19447.1);
                     Region: DEVH box"
     misc_feature    2119..2121
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P19447.1); phosphorylation site"
     regulatory      2691..2696
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /note="hexamer: AATAAA"
     polyA_site      2718
                     /gene="ERCC3"
                     /gene_synonym="BTF2; GTF2H; RAD25; Ssl2; TFIIH; TTD2; XPB"
                     /note="major polyA site"
ORIGIN
        1 agagcggatg ccgcggcggg cctgtgggag cggggtcatc ttctctctgc tgctgtagct
       61 gccatgggca aaagagaccg agcggaccgc gacaagaaga aatccaggaa gcggcactat
      121 gaggatgaag aggatgatga agaggacgcc ccggggaacg accctcagga agcggttccc
      181 tcggcggcgg ggaagcaggt ggatgagtca ggcaccaaag tggatgaata tggagccaag
      241 gactacaggc tgcaaatgcc gctgaaggac gaccacacct ccaggcccct ctgggtggct
      301 cccgatggcc atatcttctt ggaagccttc tctccagttt acaaatatgc ccaagacttc
      361 ttggtggcta ttgcagagcc agtgtgccga ccaacccatg tgcatgagta caaactaact
      421 gcctactcct tgtatgcagc tgtcagcgtt gggctgcaaa ccagtgacat caccgagtac
      481 ctcaggaagc tcagcaagac tggagtccct gatggaatta tgcagtttat taagttgtgt
      541 actgtcagct atggaaaagt caagctggtc ttgaagcaca acagatactt cgttgaaagt
      601 tgccaccctg atgtaatcca gcatcttctc caggaccccg tgatccgaga atgccgctta
      661 agaaactctg aaggggaggc cactgagctc atcacagaga ctttcacaag caaatctgcc
      721 atttctaaga ctgctgaaag cagtggtggg ccctccactt cccgagtgac agatccacag
      781 ggtaaatctg acatccccat ggacctgttt gacttctatg agcaaatgga caaggatgaa
      841 gaagaagaag aagagacaca gacagtgtct tttgaagtca agcaggaaat gattgaggaa
      901 ctccagaaac gttgcatcca cctggagtac cctctgttgg cagaatatga cttccggaat
      961 gattctgtca accctgatat caacattgac ctaaagccca cagctgtcct cagaccctat
     1021 caggagaaga gcttgcgaaa gatgtttgga aacgggcgtg cacgttcggg ggtcattgtt
     1081 cttccctgcg gtgctggaaa gtccctggtt ggtgtgactg ctgcatgcac tgtcagaaaa
     1141 cgctgtctgg tgctgggcaa ctcagctgtt tctgtggagc agtggaaagc ccagttcaag
     1201 atgtggtcca ccattgacga cagccagatc tgccggttca cctccgatgc caaggacaag
     1261 cccatcggct gctccgttgc cattagcacc tactccatgc tgggccacac caccaaaagg
     1321 tcctgggagg ccgagcgagt catggagtgg ctcaagaccc aggagtgggg cctcatgatc
     1381 ctggatgaag tgcacaccat accagccaag atgttccgaa gggtgctcac catcgtgcag
     1441 gcccactgta agctgggttt gactgcgacc ctcgtccgcg aagatgacaa aattgtggat
     1501 ttaaattttc tgattgggcc taagctctac gaagccaact ggatggagct gcagaataat
     1561 ggctacatcg ccaaagtcca gtgtgctgag gtctggtgcc ctatgtctcc tgaattttac
     1621 cgggaatatg tggcaatcaa aaccaagaaa cgaatcttgc tgtacaccat gaaccccaac
     1681 aaatttagag cttgccagtt tctgatcaag tttcatgaaa ggaggaatga caagattatt
     1741 gtctttgctg acaatgtgtt tgccctaaag gaatatgcca ttcgactgaa caaaccctat
     1801 atctacggac ctacgtctca gggggaaagg atgcaaattc tccagaattt caagcacaac
     1861 cccaaaatta acaccatctt catatccaag gtaggtgaca cttcgtttga tctgccggaa
     1921 gcaaatgtcc tcattcagat ctcatcccat ggtggctcca ggcgtcagga agcccaaagg
     1981 ctagggcggg tgcttcgagc taaaaaaggg atggttgcag aagagtacaa tgcctttttc
     2041 tactcactgg tatcccagga cacacaggaa atggcttact caaccaagcg gcagagattc
     2101 ttggtagatc aaggttatag cttcaaggtg atcacgaaac tcgctggcat ggaggaggaa
     2161 gacttggcgt tttcgacaaa agaagagcaa cagcagctct tacagaaagt cctggcagcc
     2221 actgacctgg atgccgagga ggaggtggtg gctggggaat ttggctccag atccagccag
     2281 gcatctcggc gctttggcac catgagttct atgtctgggg ccgacgacac tgtgtacatg
     2341 gagtaccact catcgcggag caaggcgccc agcaaacatg tacacccgct cttcaagcgc
     2401 tttaggaaat gatgcttagg cagggtactt cgttcaagac cggcgcttgg cacccttgtt
     2461 ggaaagggat tttcagcata acattttcct tccacctctt tgaccttccc tccagcgttg
     2521 gccaaattgt gctgaggaag atgcatcaag ggcttggctg tgccttcata ggtcatctag
     2581 ggttttataa aggaggagga gacaatattt tttcaaactt tttggggagt ggggtcattt
     2641 ctgtatataa aaaatgttaa tatttaaggt gtatttatgt taccgttctg aataaacaga
     2701 atggaccatt gaaccagt
//
LOCUS       NM_000123               3888 bp    mRNA    linear   PRI 23-MAY-2023
DEFINITION  Homo sapiens ERCC excision repair 5, endonuclease (ERCC5), mRNA.
ACCESSION   NM_000123
VERSION     NM_000123.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3888)
  AUTHORS   Das AP, Saini S, Tyagi S, Chaudhary N and Agarwal SM.
  TITLE     Elucidation of Increased Cervical Cancer Risk Due to Polymorphisms
            in XRCC1 (R399Q and R194W), ERCC5 (D1104H), and NQO1 (P187S)
  JOURNAL   Reprod Sci 30 (4), 1118-1132 (2023)
   PUBMED   36195778
  REMARK    GeneRIF: Elucidation of Increased Cervical Cancer Risk Due to
            Polymorphisms in XRCC1 (R399Q and R194W), ERCC5 (D1104H), and NQO1
            (P187S).
REFERENCE   2  (bases 1 to 3888)
  AUTHORS   Bai Z, Luo Y and Tian L.
  TITLE     ERCC5, HES6 and RORA are potential diagnostic markers of coronary
            artery disease
  JOURNAL   FEBS Open Bio 12 (10), 1814-1827 (2022)
   PUBMED   35934844
  REMARK    GeneRIF: ERCC5, HES6 and RORA are potential diagnostic markers of
            coronary artery disease.
REFERENCE   3  (bases 1 to 3888)
  AUTHORS   Abdalkhalek ES, Wakeel LME, Nagy AA and Sabri NA.
  TITLE     Variants of ERCC5 and the outcome of platinum-based regimens in
            non-small cell lung cancer: a prospective cohort study
  JOURNAL   Med Oncol 39 (10), 152 (2022)
   PUBMED   35852645
  REMARK    GeneRIF: Variants of ERCC5 and the outcome of platinum-based
            regimens in non-small cell lung cancer: a prospective cohort study.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3888)
  AUTHORS   Taupelet F, Donnio LM, Magnani C, Mari PO and Giglia-Mari G.
  TITLE     A stable XPG protein is required for proper ribosome biogenesis:
            Insights on the phenotype of combinate Xeroderma
            Pigmentosum/Cockayne Syndrome patients
  JOURNAL   PLoS One 17 (7), e0271246 (2022)
   PUBMED   35802638
  REMARK    GeneRIF: A stable XPG protein is required for proper ribosome
            biogenesis: Insights on the phenotype of combinate Xeroderma
            Pigmentosum/Cockayne Syndrome patients. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 3888)
  AUTHORS   Emmert S, Schneider TD, Khan SG and Kraemer KH.
  TITLE     The human XPG gene: gene architecture, alternative splicing and
            single nucleotide polymorphisms
  JOURNAL   Nucleic Acids Res 29 (7), 1443-1452 (2001)
   PUBMED   11266544
REFERENCE   6  (bases 1 to 3888)
  AUTHORS   Lehmann AR, Bootsma D, Clarkson SG, Cleaver JE, McAlpine PJ, Tanaka
            K, Thompson LH and Wood RD.
  TITLE     Nomenclature of human DNA repair genes
  JOURNAL   Mutat Res 315 (1), 41-42 (1994)
   PUBMED   7517009
REFERENCE   7  (bases 1 to 3888)
  AUTHORS   Shiomi T, Harada Y, Saito T, Shiomi N, Okuno Y and Yamaizumi M.
  TITLE     An ERCC5 gene with homology to yeast RAD2 is involved in group G
            xeroderma pigmentosum
  JOURNAL   Mutat Res 314 (2), 167-175 (1994)
   PUBMED   7510366
REFERENCE   8  (bases 1 to 3888)
  AUTHORS   Kraemer,K.H., DiGiovanna,J.J. and Tamura,D.
  TITLE     Xeroderma Pigmentosum
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301571
REFERENCE   9  (bases 1 to 3888)
  AUTHORS   Takahashi E, Shiomi N and Shiomi T.
  TITLE     Precise localization of the excision repair gene, ERCC5, to human
            chromosome 13q32.3-q33.1 by direct R-banding fluorescence in situ
            hybridization
  JOURNAL   Jpn J Cancer Res 83 (11), 1117-1119 (1992)
   PUBMED   1483924
REFERENCE   10  (bases 1 to 3888)
  AUTHORS   Mudgett JS and MacInnes MA.
  TITLE     Isolation of the functional human excision repair gene ERCC5 by
            intercosmid recombination
  JOURNAL   Genomics 8 (4), 623-633 (1990)
   PUBMED   2276736
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF462447.1, X69978.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000652225.2/ ENSP00000498881.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157769.12.
            On Dec 4, 2019 this sequence version replaced NM_000123.3.
            Summary: This gene encodes a single-strand specific DNA
            endonuclease that makes the 3' incision in DNA excision repair
            following UV-induced damage. The protein may also function in other
            cellular processes, including RNA polymerase II transcription, and
            transcription-coupled DNA repair. Mutations in this gene cause
            xeroderma pigmentosum complementation group G (XP-G), which is also
            referred to as xeroderma pigmentosum VII (XP7), a skin disorder
            characterized by hypersensitivity to UV light and increased
            susceptibility for skin cancer development following UV exposure.
            Some patients also develop Cockayne syndrome, which is
            characterized by severe growth defects, cognitive disability, and
            cachexia. Read-through transcription exists between this gene and
            the neighboring upstream BIVM (basic, immunoglobulin-like variable
            motif containing) gene. [provided by RefSeq, Feb 2011].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3888
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q33.1"
     gene            1..3888
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="ERCC excision repair 5, endonuclease"
                     /db_xref="GeneID:2073"
                     /db_xref="HGNC:HGNC:3437"
                     /db_xref="MIM:133530"
     misc_feature    191..193
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="upstream in-frame stop codon"
     CDS             236..3796
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="xeroderma pigmentosum, complementation group G;
                     XPG-complementing protein; DNA repair protein complementing
                     XP-G cells; excision repair cross-complementation group 5;
                     excision repair cross-complementing rodent repair
                     deficiency, complementation group 5"
                     /codon_start=1
                     /product="DNA excision repair protein ERCC-5"
                     /protein_id="NP_000114.3"
                     /db_xref="CCDS:CCDS32004.1"
                     /db_xref="GeneID:2073"
                     /db_xref="HGNC:HGNC:3437"
                     /db_xref="MIM:133530"
                     /translation="MGVQGLWKLLECSGRQVSPEALEGKILAVDISIWLNQALKGVRDR
                     HGNSIENPHLLTLFHRLCKLLFFRIRPIFVFDGDAPLLKKQTLVKRRQRKDLASSDSRK
                     TTEKLLKTFLKRQAIKTAFRSKRDEALPSLTQVRRENDLYVLPPLQEEEKHSSEEEDEK
                     EWQERMNQKQALQEEFFHNPQAIDIESEDFSSLPPEVKHEILTDMKEFTKRRRTLFEAM
                     PEESDDFSQYQLKGLLKKNYLNQHIEHVQKEMNQQHSGHIRRQYEDEGGFLKEVESRRV
                     VSEDTSHYILIKGIQAKTVAEVDSESLPSSSKMHGMSFDVKSSPCEKLKTEKEPDATPP
                     SPRTLLAMQAALLGSSSEEELESENRRQARGRNAPAAVDEGSISPRTLSAIKRALDDDE
                     DVKVCAGDDVQTGGPGAEEMRINSSTENSDEGLKVRDGKGIPFTATLASSSVNSAEEHV
                     ASTNEGREPTDSVPKEQMSLVHVGTEAFPISDESMIKDRKDRLPLESAVVRHSDAPGLP
                     NGRELTPASPTCTNSVSKNETHAEVLEQQNELCPYESKFDSSLLSSDDETKCKPNSASE
                     VIGPVSLQETSSIVSVPSEAVDNVENVVSFNAKEHENFLETIQEQQTTESAGQDLISIP
                     KAVEPMEIDSEESESDGSFIEVQSVISDEELQAEFPETSKPPSEQGEEELVGTREGEAP
                     AESESLLRDNSERDDVDGEPQEAEKDAEDSLHEWQDINLEELETLESNLLAQQNSLKAQ
                     KQQQERIAATVTGQMFLESQELLRLFGIPYIQAPMEAEAQCAILDLTDQTSGTITDDSD
                     IWLFGARHVYRNFFNKNKFVEYYQYVDFHNQLGLDRNKLINLAYLLGSDYTEGIPTVGC
                     VTAMEILNEFPGHGLEPLLKFSEWWHEAQKNPKIRPNPHDTKVKKKLRTLQLTPGFPNP
                     AVAEAYLKPVVDDSKGSFLWGKPDLDKIREFCQRYFGWNRTKTDESLFPVLKQLDAQQT
                     QLRIDSFFRLAQQEKEDAKRIKSQRLNRAVTCMLRKEKEAAASEIEAVSVAMEKEFELL
                     DKAKGKTQKRGITNTLEESSSLKRKRLSDSKGKNTCGGFLGETCLSESSDGSSSEDAES
                     SSLMNVQRRTAAKEPKTSASDSQNSVKEAPVKNGGATTSSSSDSDDDGGKEKMVLVTAR
                     SVFGKKRRKLRRARGRKRKT"
     misc_feature    236..469
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: N-domain. /evidence=ECO:0000305|PubMed:32522879"
     misc_feature    257..259
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P28715.3); acetylation site"
     misc_feature    326..436
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: DNA-binding, may bind to the undamaged
                     single-strand DNA of the DNA repair bubble.
                     /evidence=ECO:0000269|PubMed:32821917,
                     ECO:0000312|PDB:6TUW, ECO:0007744|PDB:6TUX"
     misc_feature    470..2590
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: Spacer region.
                     /evidence=ECO:0000269|PubMed:16246722"
     misc_feature    1151..1261
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1295..1390
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1385..1387
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P35689; propagated from
                     UniProtKB/Swiss-Prot (P28715.3); phosphorylation site"
     misc_feature    1445..1654
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1763..1834
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2234..2407
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2348..2350
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P35689; propagated from
                     UniProtKB/Swiss-Prot (P28715.3); phosphorylation site"
     misc_feature    2591..2878
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: I-domain. /evidence=ECO:0000305|PubMed:32522879"
     misc_feature    2693..2743
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: DNA-binding, may bind to the undamaged
                     single-strand DNA of the DNA repair bubble.
                     /evidence=ECO:0000269|PubMed:32821917,
                     ECO:0000312|PDB:6TUW, ECO:0007744|PDB:6TUX"
     misc_feature    2777..2875
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: DNA-binding, H2TH (helix-2turn-helix) motif which
                     binds double-stranded DNA.
                     /evidence=ECO:0000269|PubMed:32821917,
                     ECO:0000312|PDB:6TUW, ECO:0007744|PDB:6TUX"
     misc_feature    2969..2989
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: DNA-binding, may bind double-stranded DNA.
                     /evidence=ECO:0000269|PubMed:32821917,
                     ECO:0000312|PDB:6TUW, ECO:0007744|PDB:6TUX"
     misc_feature    3176..3262
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: Interaction with PCNA.
                     /evidence=ECO:0000269|PubMed:9305916"
     misc_feature    3266..3793
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: Interaction with ERCC6/CSB.
                     /evidence=ECO:0000269|PubMed:16246722"
     misc_feature    3401..3478
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3404..3457
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: Nuclear localization signal 1.
                     /evidence=ECO:0000305|PubMed:26812207"
     misc_feature    3518..3793
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3740..3793
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (P28715.3);
                     Region: Nuclear localization signal 2.
                     /evidence=ECO:0000305|PubMed:26812207"
     regulatory      3864..3869
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="hexamer: AATAAA"
     polyA_site      3888
                     /gene="ERCC5"
                     /gene_synonym="COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC"
                     /note="major polyA site"
ORIGIN
        1 cttccgggag gcggtgacag ctgctgagac gtgttgcagc cagagtctct ccgctttaat
       61 gcgctcccat tagtgccgtc ccccactgga aaaccgtggc ttctgtatta tttgccatct
      121 ttgttgtgta ggagcaggga gggcttcctc ccggggtcct aggcggcggt gcagtccgtc
      181 gtagaagaat tagagtagaa gttgtcgggg tccgctctta ggacgcagcc gcctcatggg
      241 ggtccagggg ctctggaagc tgctggagtg ctccgggcgg caggtcagcc ccgaagcgct
      301 ggaagggaag atcctggctg ttgatattag catttggtta aaccaagcac ttaaaggagt
      361 ccgggatcgc catgggaact caatagaaaa tcctcatctt ctcactttgt ttcatcggct
      421 ctgcaaactc ttattttttc gaattcgtcc tatttttgtg tttgatgggg atgctccact
      481 attgaagaaa cagactttgg tgaagagaag gcagagaaag gacttagcgt ccagtgactc
      541 caggaaaacg acagagaagc ttctgaaaac atttttgaaa agacaagcca tcaaaactgc
      601 cttcagaagc aaaagagatg aagcactacc cagtcttacc caagttcgaa gagaaaacga
      661 cctctatgtt ttgcctcctt tacaagagga agaaaaacac agttcagaag aggaagatga
      721 aaaagaatgg caagaaagaa tgaatcaaaa acaagcatta caggaagagt tctttcataa
      781 tcctcaagcg atagatattg agtctgagga cttcagcagc ctgccccctg aagtaaagca
      841 tgaaatcttg actgatatga aagagttcac caagcgcaga agaacattat ttgaagcaat
      901 gccagaggag tctgatgact tttcacagta ccaactcaaa ggcttgctta aaaagaacta
      961 tctgaaccag catatagaac atgtccaaaa ggaaatgaat cagcaacatt caggacacat
     1021 ccgaaggcag tatgaagatg aagggggctt tctgaaggag gtagagtcaa ggagagtggt
     1081 ctctgaagac acttcacatt acatcttgat aaaaggtatt caagctaaga cagttgcaga
     1141 agtggattca gagtctcttc cttcttccag caaaatgcac ggcatgtctt ttgacgtgaa
     1201 gtcatctcca tgtgaaaaac tgaagacaga gaaagagcct gatgctaccc ctccttctcc
     1261 aagaacttta ctagctatgc aagctgccct gctgggaagt agctcagaag aggagctgga
     1321 gagtgaaaat cgaaggcagg cccgtgggag gaacgcacct gctgctgtag acgaaggctc
     1381 catatcaccc cggactcttt cagccattaa gagagctctt gacgatgacg aagatgtaaa
     1441 agtgtgtgct ggggatgatg tgcagacggg agggccagga gcagaagaaa tgcgtataaa
     1501 cagctccacc gagaacagtg atgaaggact taaagtgaga gatggaaaag gaataccgtt
     1561 tactgcaaca cttgcgtcat ctagtgtgaa ctctgcagag gagcacgtag ccagcactaa
     1621 tgaggggaga gagcccacag actcagttcc aaaagaacaa atgtcacttg ttcacgtggg
     1681 gactgaagcc tttccgataa gtgatgagtc tatgattaag gacagaaaag atcggctgcc
     1741 tctggagagt gcagtggtta gacatagtga cgcacctggg ctcccgaatg gaagggaact
     1801 gacaccggca tctccaactt gtacaaattc tgtgtcaaag aatgaaacac atgctgaagt
     1861 gcttgagcag cagaacgaac tttgcccata tgagagtaaa ttcgattctt ctcttctttc
     1921 aagtgatgat gaaacaaaat gtaaaccgaa ttctgcttct gaagtcattg gccctgtcag
     1981 tttgcaagaa acaagtagca tagtaagtgt cccttcagag gcagtagata atgtggaaaa
     2041 tgtggtgtca tttaatgcta aagagcatga gaattttctg gaaaccatcc aagaacagca
     2101 gaccactgaa tctgcaggcc aggatttaat ttccattcca aaggccgtgg aaccaatgga
     2161 aattgactcg gaagaaagtg aatctgatgg aagtttcatt gaagtgcaaa gtgtgattag
     2221 tgatgaggaa cttcaagcag aattccctga aacttccaaa cctccctcag aacaaggcga
     2281 agaggaactg gtaggaacta gggagggaga agcccctgct gagtccgaga gcctcctgag
     2341 ggacaactct gagagggacg acgtggatgg tgagccacag gaagctgaga aagatgcgga
     2401 agattcgctc catgaatggc aagatattaa tttggaggag ttggaaactc tggagagcaa
     2461 cctcttagca cagcagaatt cactgaaagc tcaaaaacag cagcaagaac ggatcgctgc
     2521 tactgtcacc ggacagatgt tcctggaaag ccaggaactc ctgcgcctgt tcggcattcc
     2581 ctacatccag gctcccatgg aagcagaggc gcagtgcgcc atcctggacc tgactgatca
     2641 gacttccgga accatcactg atgacagtga tatctggctg tttggagcgc ggcatgtcta
     2701 tagaaacttt tttaataaaa acaagtttgt agaatattat caatatgtgg actttcacaa
     2761 tcaattggga ttggaccgga ataagttaat aaatttggct tatttgcttg gaagtgatta
     2821 taccgaagga ataccaactg tgggttgtgt aaccgccatg gaaattctca atgaattccc
     2881 tgggcatggc ctggaacctc tcctaaaatt ctcagaatgg tggcatgaag ctcaaaaaaa
     2941 tccaaagata agacctaatc ctcatgacac caaagtgaaa aaaaaattac ggacattgca
     3001 actcacccct ggctttccta acccagctgt tgccgaggcc tacctcaaac ccgtggtgga
     3061 tgactcgaag ggatcctttc tgtgggggaa acctgatctc gacaaaatta gagaattttg
     3121 tcagcggtat ttcggctgga acagaacgaa gacagatgaa tctctgtttc ctgtattaaa
     3181 gcaactcgat gcccagcaga cacagctccg aattgattcc ttctttagat tagcacaaca
     3241 ggagaaagaa gatgctaaac gtattaagag ccagagacta aacagagctg tgacatgtat
     3301 gctaaggaaa gagaaagaag cagcagccag cgaaatagaa gcagtttctg ttgccatgga
     3361 gaaagaattt gagctacttg ataaggcaaa aggaaaaacc cagaagagag gcataacaaa
     3421 taccttagaa gagtcatcaa gcctgaaaag aaagaggctt tcagattcta aaggaaagaa
     3481 tacatgcggt ggatttttgg gggagacctg cctctcagaa tcatctgatg gatcttcaag
     3541 tgaagatgct gaaagttcat ctttaatgaa tgtacaaagg agaacagctg cgaaagagcc
     3601 aaaaaccagt gcttcagatt cgcagaactc agtgaaggaa gctcccgtga agaatggagg
     3661 tgcgaccacc agcagctcta gtgatagtga tgacgatgga gggaaagaga agatggtcct
     3721 cgtgaccgcc agatctgtgt ttgggaagaa aagaaggaaa ctaagacgtg cgaggggaag
     3781 aaaaaggaaa acctaattaa aaaatatgta tcctctataa ttagttatga cagccatttg
     3841 taatgaattt gtcgcaaaga cgtaataaaa ttaactggtg gcacggtc
//
LOCUS       NM_000124               9001 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens ERCC excision repair 6, chromatin remodeling factor
            (ERCC6), transcript variant 3, mRNA.
ACCESSION   NM_000124
VERSION     NM_000124.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9001)
  AUTHORS   Bilkis R, Lake RJ, Cooper KL, Tomkinson A and Fan HY.
  TITLE     The CSB chromatin remodeler regulates PARP1- and PARP2-mediated
            single-strand break repair at actively transcribed DNA regions
  JOURNAL   Nucleic Acids Res 51 (14), 7342-7356 (2023)
   PUBMED   37326017
  REMARK    GeneRIF: The CSB chromatin remodeler regulates PARP1- and
            PARP2-mediated single-strand break repair at actively transcribed
            DNA regions.
REFERENCE   2  (bases 1 to 9001)
  AUTHORS   Luo H, Xiao Z, Huang C, Wu W and Xie Q.
  TITLE     ERCC6 plays a promoting role in the progression of non-small cell
            lung cancer
  JOURNAL   Biochem Cell Biol 101 (3), 246-258 (2023)
   PUBMED   36802454
  REMARK    GeneRIF: ERCC6 plays a promoting role in the progression of
            non-small cell lung cancer.
REFERENCE   3  (bases 1 to 9001)
  AUTHORS   Newman JC, Bailey AD, Fan HY, Pavelitz T and Weiner AM.
  TITLE     An abundant evolutionarily conserved CSB-PiggyBac fusion protein
            expressed in Cockayne syndrome
  JOURNAL   PLoS Genet 4 (3), e1000031 (2008)
   PUBMED   18369450
  REMARK    GeneRIF: a domesticated PiggyBac-like transposon PGBD3, residing
            within intron 5 of the CSB gene, functions as an alternative 3'
            terminal exon Publication Status: Online-Only
REFERENCE   4  (bases 1 to 9001)
  AUTHORS   Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R,
            Schultz RA, Stefanini M, Lehmann AR, Mayne LV and Friedberg EC.
  TITLE     The Cockayne syndrome group A gene encodes a WD repeat protein that
            interacts with CSB protein and a subunit of RNA polymerase II TFIIH
  JOURNAL   Cell 82 (4), 555-564 (1995)
   PUBMED   7664335
REFERENCE   5  (bases 1 to 9001)
  AUTHORS   Troelstra C, Hesen W, Bootsma D and Hoeijmakers JH.
  TITLE     Structure and expression of the excision repair gene ERCC6, involved
            in the human disorder Cockayne's syndrome group B
  JOURNAL   Nucleic Acids Res 21 (3), 419-426 (1993)
   PUBMED   8382798
REFERENCE   6  (bases 1 to 9001)
  AUTHORS   Laugel,V.
  TITLE     Cockayne Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301516
REFERENCE   7  (bases 1 to 9001)
  AUTHORS   Troelstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D and
            Hoeijmakers JH.
  TITLE     ERCC6, a member of a subfamily of putative helicases, is involved in
            Cockayne's syndrome and preferential repair of active genes
  JOURNAL   Cell 71 (6), 939-953 (1992)
   PUBMED   1339317
REFERENCE   8  (bases 1 to 9001)
  AUTHORS   Troelstra C, Landsvater RM, Wiegant J, van der Ploeg M, Viel G, Buys
            CH and Hoeijmakers JH.
  TITLE     Localization of the nucleotide excision repair gene ERCC6 to human
            chromosome 10q11-q21
  JOURNAL   Genomics 12 (4), 745-749 (1992)
   PUBMED   1349298
REFERENCE   9  (bases 1 to 9001)
  AUTHORS   Fryns JP, Bulcke J, Verdu P, Carton H, Kleczkowska A and Van den
            Berghe H.
  TITLE     Apparent late-onset Cockayne syndrome and interstitial deletion of
            the long arm of chromosome 10 (del(10)(q11.23q21.2))
  JOURNAL   Am J Med Genet 40 (3), 343-344 (1991)
   PUBMED   1951442
REFERENCE   10  (bases 1 to 9001)
  AUTHORS   Troelstra C, Odijk H, de Wit J, Westerveld A, Thompson LH, Bootsma D
            and Hoeijmakers JH.
  TITLE     Molecular cloning of the human DNA excision repair gene ERCC-6
  JOURNAL   Mol Cell Biol 10 (11), 5806-5813 (1990)
   PUBMED   2172786
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853566.3374.1, L04791.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000355832.10/ ENSP00000348089.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073366.4, DA457690.1,
            L04791.1, AB209504.1 and AL138760.14.
            On Nov 22, 2018 this sequence version replaced NM_000124.3.
            Summary: This gene encodes a DNA-binding protein that is important
            in transcription-coupled excision repair. The encoded protein has
            ATP-stimulated ATPase activity, interacts with several
            transcription and excision repair proteins, and may promote complex
            formation at DNA repair sites. Mutations in this gene are
            associated with Cockayne syndrome type B and
            cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs
            between a splice site from exon 5 of this gene to the 3' splice
            site upstream of the open reading frame (ORF) of the adjacent gene,
            piggyback-derived-3 (GeneID:267004), which activates the
            alternative polyadenylation site downstream of the
            piggyback-derived-3 ORF. The resulting transcripts encode a fusion
            protein that shares sequence with the product of each individual
            gene. [provided by RefSeq, Mar 2016].
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longer protein (isoform 2).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..9001
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.23"
     gene            1..9001
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="ERCC excision repair 6, chromatin remodeling factor"
                     /db_xref="GeneID:2074"
                     /db_xref="HGNC:HGNC:3438"
                     /db_xref="MIM:609413"
     misc_feature    169..171
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="upstream in-frame stop codon"
     CDS             175..4656
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /EC_number="3.6.4.-"
                     /note="isoform 2 is encoded by transcript variant 3;
                     Cockayne syndrome group B protein; DNA excision repair
                     protein ERCC-6; excision repair cross-complementation group
                     6; ATP-dependent helicase ERCC6; cockayne syndrome protein
                     CSB; excision repair cross-complementing rodent repair
                     deficiency, complementation group 6; ERCC6-PGBD3 fusion
                     protein; Chimeric CSB-PGBD3 protein; Chimeric ERCC6-PGBD3
                     protein"
                     /codon_start=1
                     /product="DNA excision repair protein ERCC-6 isoform 2"
                     /protein_id="NP_000115.1"
                     /db_xref="CCDS:CCDS7229.1"
                     /db_xref="GeneID:2074"
                     /db_xref="HGNC:HGNC:3438"
                     /db_xref="MIM:609413"
                     /translation="MPNEGIPHSSQTQEQDCLQSQPVSNNEEMAIKQESGGDGEVEEYL
                     SFRSVGDGLSTSAVGCASAAPRRGPALLHIDRHQIQAVEPSAQALELQGLGVDVYDQDV
                     LEQGVLQQVDNAIHEASRASQLVDVEKEYRSVLDDLTSCTTSLRQINKIIEQLSPQAAT
                     SRDINRKLDSVKRQKYNKEQQLKKITAKQKHLQAILGGAEVKIELDHASLEEDAEPGPS
                     SLGSMLMPVQETAWEELIRTGQMTPFGTQIPQKQEKKPRKIMLNEASGFEKYLADQAKL
                     SFERKKQGCNKRAARKAPAPVTPPAPVQNKNKPNKKARVLSKKEERLKKHIKKLQKRAL
                     QFQGKVGLPKARRPWESDMRPEAEGDSEGEESEYFPTEEEEEEEDDEVEGAEADLSGDG
                     TDYELKPLPKGGKRQKKVPVQEIDDDFFPSSGEEAEAASVGEGGGGGRKVGRYRDDGDE
                     DYYKQRLRRWNKLRLQDKEKRLKLEDDSEESDAEFDEGFKVPGFLFKKLFKYQQTGVRW
                     LWELHCQQAGGILGDEMGLGKTIQIIAFLAGLSYSKIRTRGSNYRFEGLGPTVIVCPTT
                     VMHQWVKEFHTWWPPFRVAILHETGSYTHKKEKLIRDVAHCHGILITSYSYIRLMQDDI
                     SRYDWHYVILDEGHKIRNPNAAVTLACKQFRTPHRIILSGSPMQNNLRELWSLFDFIFP
                     GKLGTLPVFMEQFSVPITMGGYSNASPVQVKTAYKCACVLRDTINPYLLRRMKSDVKMS
                     LSLPDKNEQVLFCRLTDEQHKVYQNFVDSKEVYRILNGEMQIFSGLIALRKICNHPDLF
                     SGGPKNLKGLPDDELEEDQFGYWKRSGKMIVVESLLKIWHKQGQRVLLFSQSRQMLDIL
                     EVFLRAQKYTYLKMDGTTTIASRQPLITRYNEDTSIFVFLLTTRVGGLGVNLTGANRVV
                     IYDPDWNPSTDTQARERAWRIGQKKQVTVYRLLTAGTIEEKIYHRQIFKQFLTNRVLKD
                     PKQRRFFKSNDLYELFTLTSPDASQSTETSAIFAGTGSDVQTPKCHLKRRIQPAFGADH
                     DVPKRKKFPASNISVNDATSSEEKSEAKGAEVNAVTSNRSDPLKDDPHMSSNVTSNDRL
                     GEETNAVSGPEELSVISGNGECSNSSGTGKTSMPSGDESIDEKLGLSYKRERPSQAQTE
                     AFWENKQMENNFYKHKSKTKHHSVAEEETLEKHLRPKQKPKNSKHCRDAKFEGTRIPHL
                     VKKRRYQKQDSENKSEAKEQSNDDYVLEKLFKKSVGVHSVMKHDAIMDGASPDYVLVEA
                     EANRVAQDALKALRLSRQRCLGAVSGVPTWTGHRGISGAPAGKKSRFGKKRNSNFSVQH
                     PSSTSPTEKCQDGIMKKEGKDNVPEHFSGRAEDADSSSGPLASSSLLAKMRARNHLILP
                     ERLESESGHLQEASALLPTTEHDDLLVEMRNFIAFQAHTDGQASTREILQEFESKLSAS
                     QSCVFRELLRNLCTFHRTSGGEGIWKLKPEYC"
     misc_feature    175..1704
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03468.1);
                     Region: N-terminal domain, essential for its chromatin
                     remodeling activity. /evidence=ECO:0000269|PubMed:29203878"
     misc_feature    175..291
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03468.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    202..204
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="Phosphoserine, by ATM.
                     /evidence=ECO:0000269|PubMed:29203878; propagated from
                     UniProtKB/Swiss-Prot (Q03468.1); phosphorylation site"
     misc_feature    646..648
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="Phosphoserine, by CDK2.
                     /evidence=ECO:0000269|PubMed:29203878,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q03468.1); phosphorylation site"
     misc_feature    682..684
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="N6-methylated lysine, by EHMT2.
                     /evidence=ECO:0000269|PubMed:18438403; propagated from
                     UniProtKB/Swiss-Prot (Q03468.1); methylation site"
     misc_feature    1033..1143
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03468.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1063..1065
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="N6-methylated lysine, by EHMT2.
                     /evidence=ECO:0000269|PubMed:18438403; propagated from
                     UniProtKB/Swiss-Prot (Q03468.1); methylation site"
     misc_feature    1204..1533
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03468.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1459..1461
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q03468.1); phosphorylation site"
     misc_feature    1462..1464
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q03468.1); phosphorylation site"
     misc_feature    1516..1518
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="N6-methylated lysine, by EHMT2.
                     /evidence=ECO:0000269|PubMed:18438403; propagated from
                     UniProtKB/Swiss-Prot (Q03468.1); methylation site"
     misc_feature    1630..1632
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q03468.1); phosphorylation site"
     misc_feature    1639..1641
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q03468.1); phosphorylation site"
     misc_feature    2110..2121
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03468.1);
                     Region: DEAH box.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00541"
     misc_feature    3298..3615
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03468.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3334..3336
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="N6-methylated lysine, by EHMT2.
                     /evidence=ECO:0000269|PubMed:18438403; propagated from
                     UniProtKB/Swiss-Prot (Q03468.1); methylation site"
     misc_feature    3598..3600
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q03468.1); phosphorylation site"
     misc_feature    3715..3915
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03468.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4126..4326
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03468.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4216..4218
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q03468.1); phosphorylation site"
     misc_feature    4372..4458
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03468.1);
                     Region: Ubiquitin-binding domain (UBD).
                     /evidence=ECO:0000269|PubMed:20541997"
     misc_feature    4459..4653
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03468.1);
                     Region: Winged-helix domain (WHD).
                     /evidence=ECO:0000305|PubMed:29203878"
     misc_feature    4510..4653
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03468.1);
                     Region: Essential for its interaction with RNA polymerase
                     II, transcription-coupled nucleotide excision repair
                     activity, association with chromatin after UV irradiation
                     and for mediating the UV-induced translocation of ERRC8 to
                     the nuclear matrix. /evidence=ECO:0000269|PubMed:26620705"
     regulatory      6792..6797
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="hexamer: AATAAA"
     polyA_site      6821
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="major polyA site"
     regulatory      7299..7304
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="hexamer: AATAAA"
     polyA_site      7320
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
     regulatory      8202..8207
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="hexamer: ATTAAA"
     polyA_site      8230
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
     regulatory      8399..8404
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="hexamer: AATATA"
     polyA_site      8422
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
     regulatory      8970..8975
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
                     /note="hexamer: AATAAA"
     polyA_site      9001
                     /gene="ERCC6"
                     /gene_synonym="ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3;
                     POF11; RAD26; UVSS1"
ORIGIN
        1 gccacgggcc tccccgcacc agcagaagtc ggagtcgctg ttgggggcgg tgtctatggt
       61 tgagctgagg gcgcaggcgc cacggcccgt cgagctgggt tccaaggcgg ctggcggcgg
      121 tagcgtctct gtttccttgt gggcgctcgc gcggccctgg gtagtctgta gagaatgcca
      181 aatgagggaa tcccccactc aagtcaaact caggagcaag actgtttaca gagtcaacct
      241 gtcagtaata atgaagaaat ggcaatcaag caagaaagtg gtggtgatgg ggaggtggag
      301 gagtacctct cctttcgttc tgtgggtgac gggctgtcca cctctgctgt ggggtgcgca
      361 tcagcagctc cgaggagagg gccagccctg ctgcacatcg accgacatca gatccaggca
      421 gtagagccta gcgcccaggc ccttgagctg cagggtttgg gtgtggacgt ctatgaccag
      481 gacgtgctgg aacagggagt gcttcagcag gtggacaatg ccatccatga ggccagccgt
      541 gcctcccagc tcgttgacgt ggagaaggag tatcggtcgg tcctggatga cctcacgtca
      601 tgtacgacat ccctaaggca aatcaataaa attattgaac agcttagccc tcaagctgcc
      661 accagcagag acatcaacag gaaactagat tctgtaaaac gacagaagta taataaggaa
      721 caacagctaa aaaagatcac tgcaaaacaa aagcatctcc aggccatcct tggaggagca
      781 gaggtgaaaa ttgaactaga tcacgccagt ctggaggagg atgcagagcc ggggccatcc
      841 agtcttggca gcatgctcat gcctgtccag gagactgcct gggaagagct catccgcact
      901 ggccagatga caccttttgg tacccagatc cctcagaaac aggagaaaaa gcccagaaaa
      961 atcatgctta atgaagcatc aggcttcgaa aagtatttgg cagatcaagc aaaactgtct
     1021 tttgaaagga agaagcaagg ttgtaataaa agagcagcta gaaaagctcc agccccagtc
     1081 acgcctccag ccccagtgca aaataaaaac aaaccaaaca agaaagccag agttctgtcc
     1141 aaaaaagagg agcgtttgaa aaagcacatc aagaaactcc agaagagggc tttgcagttc
     1201 caggggaaag tgggattgcc aaaggcaagg agaccttggg agtcagacat gaggccagag
     1261 gcagagggag actctgaggg tgaagagtct gagtatttcc ccacagagga ggaggaagag
     1321 gaggaagatg acgaggtgga gggggcagag gcggacctgt ctggagatgg tactgactat
     1381 gagctgaagc ctctgcccaa gggcgggaaa cggcagaaga aagtgccagt gcaggagatt
     1441 gatgatgact ttttcccaag ttctggggaa gaagctgaag ctgcttctgt aggagaagga
     1501 ggaggaggag gtcggaaagt gggaagatac cgagatgatg gagatgaaga ttattataag
     1561 cagcggttaa ggagatggaa taaactgaga ctgcaggaca aagagaaacg tctgaagctg
     1621 gaggacgatt ctgaggaaag tgatgctgaa tttgacgaag gttttaaagt gccaggtttt
     1681 ctgttcaaaa agctttttaa gtaccagcag acaggtgtta ggtggctgtg ggaattgcac
     1741 tgccagcagg caggaggaat tctgggagat gaaatgggat tgggcaagac catccagata
     1801 attgccttct tggcaggtct gagctacagc aagatcagga ctcgtggttc aaattacagg
     1861 tttgaggggt tgggtccaac tgtaattgtc tgtccaacaa cagtgatgca tcagtgggtg
     1921 aaggaatttc acacgtggtg gcctccgttc agagtggcaa ttctacatga aaccggttcc
     1981 tatacccaca aaaaggagaa actaattcga gatgttgctc attgtcatgg aattttgatc
     2041 acatcttact cctacattcg attgatgcag gatgacatta gcaggtatga ctggcactat
     2101 gtgatcttgg acgaaggaca caaaattcga aatccaaatg ctgctgtcac ccttgcttgc
     2161 aaacagtttc gcacccctca tcggatcatt ctgtctggct caccgatgca aaataacctc
     2221 cgagagctgt ggtcgctctt tgacttcatc ttcccgggaa agttaggcac gttgcctgtg
     2281 tttatggagc agttctccgt ccccatcacc atggggggat attcaaatgc ttccccagta
     2341 caggtcaaaa ctgcttacaa gtgtgcatgt gtcttacgag ataccataaa tccataccta
     2401 ctgcggagaa tgaagtcaga tgtcaagatg agcctttctt tgccagataa aaatgaacag
     2461 gtcttatttt gccgtcttac agatgagcag cataaagtct accaaaattt cgttgattcc
     2521 aaagaagttt acaggattct caatggagag atgcagattt tctccggact tatagcccta
     2581 agaaaaattt gcaaccaccc tgatctcttt tctggaggtc ccaagaatct caaaggtctt
     2641 cctgatgatg aactagaaga agatcagttt gggtactgga aacgttctgg gaaaatgatt
     2701 gttgttgagt ctttgttgaa aatatggcac aagcagggtc agcgagtatt gctgttttct
     2761 cagtcaaggc agatgctgga catacttgaa gtattcctta gagcccaaaa gtatacctat
     2821 ctcaagatgg atggtaccac tacaatagct tcaagacagc cactgattac gagatacaat
     2881 gaggacacat ccatatttgt gtttcttctg accacgcggg tgggcggctt aggtgtcaac
     2941 ctgacggggg caaacagagt tgtcatctat gacccagact ggaacccaag cacggacacg
     3001 caggcccggg agcgagcatg gagaataggc cagaagaagc aagtgactgt gtacaggctc
     3061 ctgactgcgg gcaccattga agaaaagatc taccaccgac aaatcttcaa gcagtttttg
     3121 acaaatagag tgctaaaaga cccaaaacaa aggcggtttt tcaaatccaa tgatctctat
     3181 gagctattta ctctgactag tcctgatgca tcccagagca ctgaaacaag tgcaattttt
     3241 gcaggaactg gatcagatgt tcagacaccc aaatgccatc taaaaagaag gattcaacca
     3301 gcctttggag cagaccatga tgttccaaaa cgcaagaagt tccctgcttc taacatatct
     3361 gtaaatgatg ccacatcatc tgaagagaaa tctgaggcta aaggagctga agtaaatgca
     3421 gtaacttcta atcgaagtga tcctttgaaa gatgaccctc acatgagtag taatgtaact
     3481 agcaatgata ggcttggaga agagacaaat gcagtatctg gaccagaaga gttgtcagtg
     3541 attagtggaa atggggaatg ttcaaattct tcaggaacag gcaaaacttc tatgccatct
     3601 ggtgatgaaa gcattgatga aaagttaggt ctttcttaca aaagagaaag acccagccag
     3661 gctcaaacag aagctttttg ggagaataaa caaatggaaa ataattttta taagcacaag
     3721 tcaaaaacaa aacatcatag tgtggcagaa gaagagaccc tggagaaaca tctgagacca
     3781 aagcaaaagc ctaagaactc taagcattgc agagacgcca agtttgaagg aactcgaatt
     3841 ccacacctgg tgaagaaaag gcgttaccag aagcaagaca gtgaaaacaa gagtgaggcc
     3901 aaggaacaga gcaatgacga ttatgttttg gaaaagcttt tcaaaaaatc agttggcgtg
     3961 cacagtgtca tgaagcacga tgccatcatg gatggagcca gcccagatta tgtactggtg
     4021 gaggcagaag ccaaccgagt ggcccaggat gccctgaaag cactgaggct ctctcgtcag
     4081 cggtgtctgg gagcagtgtc tggtgttccc acctggactg gccacagggg gatttctggt
     4141 gcaccagcag gaaaaaagag tagatttggt aagaaaagga attctaactt ctctgtgcag
     4201 catccttcat caacatctcc aacagagaag tgccaggatg gcatcatgaa aaaggaggga
     4261 aaagataatg tccctgagca ttttagtgga agagcagaag atgcagactc ttcatccggg
     4321 cccctcgctt cctcctcact cttggctaaa atgagagcta gaaaccacct gattctgcca
     4381 gagcgtttag aaagtgaaag cgggcacctg caggaagctt ctgccctgct gcccaccaca
     4441 gaacacgatg accttctggt ggagatgaga aacttcatcg ctttccaggc ccacactgat
     4501 ggccaggcca gcaccaggga gatactgcag gagtttgaat ccaagttatc tgcatcacag
     4561 tcttgtgtct tccgagaact attgagaaat ctgtgcactt tccatagaac ttctggtggt
     4621 gaaggaattt ggaaactcaa gccagaatac tgctaaacaa cattgcttcc taaactttca
     4681 agtccctttt tctaacgggc atttctgatt attaatttat tattaataat catgtttgtc
     4741 aatggaagtt ggctgcactt gatgtttgtt tgcatgatgt ctacctcaga attaaaactt
     4801 taaggaagaa gaaactcttc tctgaaagtt aaaagtttta ataatgctag ctaaaggaga
     4861 aaatacttgg attgattttt ttttttttgg caatctaatt atattgtaaa tcaggtacct
     4921 aacagttact ccttggagca catttgttcc tttacccaaa agatgctgtc agggagcaca
     4981 gttagaagtt tgcagaacag aaatctcaat attttttttt attggtgcta aaaacaggtc
     5041 ttacattcag tcagacctgt tcaataagtt catcaatatc tgataacagc attattttga
     5101 tgcttaaact ttaaacattt atatttacca tttgccaccc acaaaggtca ggtttgttat
     5161 ttgttgtttg ataattatat taattttctt ggaaagatcc tcttttcaag gtactggtaa
     5221 attggtgagt atttttatta gtaaagcatg aaatagtatg gtaataaatg ataagacatg
     5281 tatttgtgga aagctgtagg gtattcagtt taccctggct ttcctttaag cagagggcat
     5341 ctttttctct cctacagtca caaaatgtgt tatcattaaa aaaaatcaaa ttaaagccaa
     5401 aagtaggtac ataaaaacca cacacatgca tgcacacaaa catcactgca gcccacagca
     5461 gacccagccg ttgttaccat gaagtgacac cactccaggc ctctcttgtc tgcaggctgg
     5521 caggctgtct tctctccagt tgccttcgtc ttgcgcctgc ctttgcattc cttgcgacgg
     5581 gctttcttgt ttctgcggtt tggattccag ccaaggctgt ttgtatctca ctactgttta
     5641 tgtgtttgtg gttctgtgat ggtgttgctt tgatcctcag tttattttct tacccatgtt
     5701 tttcttgttt ccttctcagg atgattttat catctcatct ttgaagtgtt gttttccgaa
     5761 attcatcgta ttcctgaaat ttcttcttag ctgtcttagt gcagtttgtt tcttggattt
     5821 gtattctctg gcatgctctt ttcctctctc tcatttttct gtagtatgcc tgccctccta
     5881 ccctgctatt tctttacatc tctctcatgc ttaacatgga tagctgtgtc cagatcttct
     5941 gtctgctcat ccatgtgact cagagaggag ggttctgggc aggggggcct tgccggactg
     6001 catgagagga catgagtttt gctttctctg ctctaatatt ttgcttaagc caagaatcct
     6061 tttcttagag atgttctata tgattcctgt caggattttc tagttttttt tggattatag
     6121 cttgttcatt tcttttgttt ttagtttggt ttatatataa tgagggaaga agatgattac
     6181 attatttttg tcactttgcc atcattgttt agaagtcata gaaagaattt ttaaataggc
     6241 caataagtct taaacttgag tacttggctt agaagaaagt caaaactcct tcctttttga
     6301 ctaagtggtt tgtttctggg gagctcttaa tttctatttt tataatcatt agcctataag
     6361 gaaattgtgt cttccttgtt ctcagggtga tctgctgacc ttgttcactc atgaagcatt
     6421 tgggtatcat acttatagtg tctgaaacat aaactgtatt gagctagaca aggtatagcc
     6481 tcctcttcaa gtagcaaata ctatcaaaag ctataatgca gtaggagcaa ggtggtcctt
     6541 gttccagttt ttgtctcagt tctgctgctg atgtaccatg atcttgggaa ggtggtgtct
     6601 cagtgtggag atctgacaca ttgttaccgt gcctcctggc tggagggact tggagaacaa
     6661 tgcagttaag tagaatggtt ttaacaatac agagaaattt attcatttag ataaaaatct
     6721 gatttttaga actttaaaag ctttgtacag tgtaaataga tttaatgtat ttaacatgct
     6781 ttatcagcac aaataaagga ttttaaaatt ttgtcaaaaa attaaatgtt aatactatca
     6841 ccattaaaaa tgttcaagca atagtctgcc tccccacccc cacaccatct tgcacctgtt
     6901 ccacagctaa gtacagccct aggtttggtg tgtattctcc atgcatttag agaatcacat
     6961 gacacagact gctgctataa tgtcattttc ccattcttcc tttactaata aaatttttga
     7021 gttttacctg gacgtctggc tgctcagctt aagactactt ctcagcctct cttatagtta
     7081 attgtggcca tatgactaag ttttaaactt cccaattggc cctttaaaga agcagggtat
     7141 gcactctcct tgacattccc ctttcttgct ggctgggagg ccaatgggag cttcagtagt
     7201 gacctggcat ctcaagagat ggaagtgatg tgttgaggaa ggagaagttg gcctgccagt
     7261 cttgaactgc tctcctttga cctgttattt aagagtaaaa taaaatactg acttgcttaa
     7321 gctactgtct tttgaagtct attatagcaa ttagtttgct ttaaatatgt aatttatatt
     7381 aatggcctta taccatcctt attttgcaac taacttttca tttaatatta tatgcaagac
     7441 atttctattc ctgtaagtat agctctgcct gcacagaatt gttggattaa tgatgtagat
     7501 tttaaatgtc agtggatgta gcagaattgc ttgcatcaat tcaccctcca taaaaggacc
     7561 catttctcca aacccttgcc aacagtaagt ggtatcaata tcgataggtt gttttgtttt
     7621 gttttaacca gtctcgtgat tgaaagtacc ttgttttcac ttgaatttcc ctgattacgt
     7681 acaaaatcaa acatttccat gtttattggc catttgtaga tctctaccgt acattgccta
     7741 ttagtgttat gttggcctag ttttcctgtg ggttgtttat cttttaggat tgctccccta
     7801 aacaaaaaca aaaaggcagt tattccaatg atcaacaaat attcttttct ccaccagttt
     7861 aaaatgtcag ctttcaactc atcacatgct aagttgtcta tttctgtcct gtggatccag
     7921 gtgttggttc taccaaccac actcctcacg ctgtcatttg gtgctttgca ttgtgttttg
     7981 ccattcatgg gcaagttcct tttcctttct ccccctcttc agtgtcttat acttgggtgt
     8041 tttctgttcc agctgaatca agaattagtt tattaaattc cagtaaaatt gtggtgttct
     8101 tttgactagg attgcatttg tttacacatt aatttgagaa taatagacct ctttataatt
     8161 aatataatgt ttctgattag tgttatgata ggcctcattt tattaaagtc ttttatattc
     8221 ttggatgaaa ttttaataac tttcttcata aatgtcttgc acatttcata ataggcttat
     8281 tcctaggtgt tttatagatt tttagttttg gttgtgagtc ttttaactta cataaaaata
     8341 tggagaatta gcatattcac atatctattt tgtgatgttt atcatacgga agttttaaaa
     8401 tatagtaaat tcagtctttc catttttttt tgtttattta agaaccattc cctagctagg
     8461 gtcatgaata cattcttatg aattattaat cccatatgga tagctagttt ccctagcacc
     8521 tttaaaaaat agtttattat tttcctcctg atgtataagg ccacctttac caatttacat
     8581 ataatgtacg gaaatgtttc ttggctctgc attctgttaa attggtccat ttatctaact
     8641 ttgcttagta acccactgtt tttatcattg tggtatcata attgattatc acaaatggta
     8701 gaatgattgt cctcaaagtc ttttctggta tatattgata taattgtata gcttttcttg
     8761 gtgtagtaaa gtacacagtt aaattttcta acattgaaat atcttttaga ttttcacttc
     8821 cagaatggca atgtgaaggg ccctgtggac ccactgtcct aggaattagc tataactagt
     8881 gaaaattgta acaaaaaata aacaccttcc tctcatacag agagacacaa acacttaatg
     8941 ccactggaaa ttgtcctaaa agcatgtaga ataaagtaac gcttattcaa gaaaatccaa
     9001 a
//
LOCUS       NM_000125               6327 bp    mRNA    linear   PRI 22-SEP-2023
DEFINITION  Homo sapiens estrogen receptor 1 (ESR1), transcript variant 1, mRNA.
ACCESSION   NM_000125
VERSION     NM_000125.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6327)
  AUTHORS   Sun L, Ji WX, Li Y, Li ZL, Duan CC, Xia BR and Xiao L.
  TITLE     The PAPSS1 gene is a modulator of response to cisplatin by
            regulating estrogen receptor alpha signaling activity in ovarian
            cancer cells
  JOURNAL   J Ovarian Res 16 (1), 187 (2023)
   PUBMED   37684671
  REMARK    GeneRIF: The PAPSS1 gene is a modulator of response to cisplatin by
            regulating estrogen receptor alpha signaling activity in ovarian
            cancer cells. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6327)
  AUTHORS   Bini M, Gantzer J, Dufresne A, Vanacker H, Romeo C, Franceschi T,
            Treilleux I, Pissaloux D, Tirode F, Blay JY, Ray-Coquard I and
            Brahmi M.
  TITLE     ESR1 Rearrangement as a Diagnostic and Predictive Biomarker in
            Uterine Tumor Resembling Ovarian Sex Cord Tumor: A Report of Four
            Cases
  JOURNAL   JCO Precis Oncol 7, e2300130 (2023)
   PUBMED   37561982
  REMARK    GeneRIF: ESR1 Rearrangement as a Diagnostic and Predictive Biomarker
            in Uterine Tumor Resembling Ovarian Sex Cord Tumor: A Report of Four
            Cases.
REFERENCE   3  (bases 1 to 6327)
  AUTHORS   Tuama MQ, Ibrahim WN and Sharief M.
  TITLE     Correlation of Estrogen Receptor Alpha Serum Level with Gene
            Polymorphism and Its Effect on Women with Unexplained Infertility,
            Basra, Iraq
  JOURNAL   Arch Razi Inst 78 (2), 775-783 (2023)
   PUBMED   37396743
  REMARK    GeneRIF: Correlation of Estrogen Receptor Alpha Serum Level with
            Gene Polymorphism and Its Effect on Women with Unexplained
            Infertility, Basra, Iraq. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6327)
  AUTHORS   Ishii H, Kobayashi M, Munetomo A, Miyamoto T and Sakuma Y.
  TITLE     Novel splicing events and post-transcriptional regulation of human
            estrogen receptor alpha E isoforms
  JOURNAL   J Steroid Biochem Mol Biol 133, 120-128 (2013)
   PUBMED   23032375
  REMARK    GeneRIF: the 5'-UTRs of the E isoforms post-transcriptionally
            control ERalpha expression mainly through translational repression
REFERENCE   5  (bases 1 to 6327)
  AUTHORS   Pentecost BT, Song R, Luo M, DePasquale JA and Fasco MJ.
  TITLE     Upstream regions of the estrogen receptor alpha proximal promoter
            transcript regulate ER protein expression through a translational
            mechanism
  JOURNAL   Mol Cell Endocrinol 229 (1-2), 83-94 (2005)
   PUBMED   15607532
REFERENCE   6  (bases 1 to 6327)
  AUTHORS   Kos M, Denger S, Reid G and Gannon F.
  TITLE     Upstream open reading frames regulate the translation of the
            multiple mRNA variants of the estrogen receptor alpha
  JOURNAL   J Biol Chem 277 (40), 37131-37138 (2002)
   PUBMED   12147702
  REMARK    GeneRIF: Upstream open reading frames regulate the translation of
            the multiple mRNA variants
REFERENCE   7  (bases 1 to 6327)
  AUTHORS   Ing NH, Beekman JM, Tsai SY, Tsai MJ and O'Malley BW.
  TITLE     Members of the steroid hormone receptor superfamily interact with
            TFIIB (S300-II)
  JOURNAL   J Biol Chem 267 (25), 17617-17623 (1992)
   PUBMED   1517211
REFERENCE   8  (bases 1 to 6327)
  AUTHORS   Piva R, Gambari R, Zorzato F, Kumar L and del Senno L.
  TITLE     Analysis of upstream sequences of the human estrogen receptor gene
  JOURNAL   Biochem Biophys Res Commun 183 (3), 996-1002 (1992)
   PUBMED   1567414
REFERENCE   9  (bases 1 to 6327)
  AUTHORS   Keaveney M, Klug J and Gannon F.
  TITLE     Sequence analysis of the 5' flanking region of the human estrogen
            receptor gene
  JOURNAL   DNA Seq 2 (6), 347-358 (1992)
   PUBMED   1476547
  REMARK    Erratum:[DNA Seq 1992;3(3):201]
REFERENCE   10  (bases 1 to 6327)
  AUTHORS   Keaveney M, Klug J, Dawson MT, Nestor PV, Neilan JG, Forde RC and
            Gannon F.
  TITLE     Evidence for a previously unidentified upstream exon in the human
            oestrogen receptor gene
  JOURNAL   J Mol Endocrinol 6 (1), 111-115 (1991)
   PUBMED   2015052
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X03635.1, SRR14038197.2033366.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000206249.8/ ENSP00000206249.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            regulatory uORF             :: PMID: 12147702
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356311.6, BC128573.1,
            AL590993.14, BE084831.1 and AL078582.13.
            On Dec 27, 2019 this sequence version replaced NM_000125.3.
            Summary: This gene encodes an estrogen receptor and
            ligand-activated transcription factor. The canonical protein
            contains an N-terminal ligand-independent transactivation domain, a
            central DNA binding domain, a hinge domain, and a C-terminal
            ligand-dependent transactivation domain. The protein localizes to
            the nucleus where it may form either a homodimer or a heterodimer
            with estrogen receptor 2. The protein encoded by this gene
            regulates the transcription of many estrogen-inducible genes that
            play a role in growth, metabolism, sexual development, gestation,
            and other reproductive functions and is expressed in many
            non-reproductive tissues. The receptor encoded by this gene plays a
            key role in breast cancer, endometrial cancer, and osteoporosis.
            This gene is reported to have dozens of transcript variants due to
            the use of alternate promoters and alternative splicing, however,
            the full-length nature of many of these variants remain uncertain.
            [provided by RefSeq, Jul 2020].
            Transcript Variant: This variant (1) uses the most proximal
            promoter, and encodes isoform 1. Variants 1-4 and 8-9 encode the
            same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6327
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1-q25.2"
     gene            1..6327
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="estrogen receptor 1"
                     /db_xref="GeneID:2099"
                     /db_xref="HGNC:HGNC:3467"
                     /db_xref="MIM:133430"
     misc_feature    178..180
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="upstream in-frame stop codon"
     CDS             232..2019
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ER-alpha; estradiol receptor; nuclear receptor subfamily 3
                     group A member 1; estrogen nuclear receptor alpha; estrogen
                     receptor alpha E1-E2-1-2; estrogen receptor alpha
                     E1-N2-E2-1-2; oestrogen receptor alpha; E2 receptor alpha"
                     /codon_start=1
                     /product="estrogen receptor isoform 1"
                     /protein_id="NP_000116.2"
                     /db_xref="CCDS:CCDS5234.1"
                     /db_xref="GeneID:2099"
                     /db_xref="HGNC:HGNC:3467"
                     /db_xref="MIM:133430"
                     /translation="MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLD
                     SSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVS
                     PSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQGGRE
                     RLASTNDKGSMAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCP
                     ATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVG
                     SAGDMRAANLWPSPLMIKRSKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEA
                     SMMGLLTNLADRELVHMINWAKRVPGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHP
                     GKLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNSGV
                     YTFLSSTLKSLEEKDHIHRVLDKITDTLIHLMAKAGLTLQQQHQRLAQLLLILSHIRHM
                     SNKGMEHLYSMKCKNVVPLYDLLLEMLDAHRLHAPTSRGGASVEETDQSHLATAGSTSS
                     HSLQKYYITGEAEGFPATV"
     misc_feature    232..783
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="propagated from UniProtKB/Swiss-Prot (P03372.2);
                     Region: Modulating (transactivation AF-1), mediates
                     interaction with MACROD1.
                     /evidence=ECO:0000269|PubMed:17914104"
     misc_feature    259..261
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="O-linked (GlcNAc) serine. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P03372.2);
                     glycosylation site"
     misc_feature    334..753
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="propagated from UniProtKB/Swiss-Prot (P03372.2);
                     Region: Interaction with DDX5, self-association.
                     /evidence=ECO:0000269|PubMed:11682626"
     misc_feature    334..372
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="propagated from UniProtKB/Swiss-Prot (P03372.2);
                     Region: Required for interaction with NCOA1.
                     /evidence=ECO:0000269|PubMed:11682626"
     misc_feature    541..543
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="Phosphoserine, by CDK2.
                     /evidence=ECO:0000269|PubMed:10428798; propagated from
                     UniProtKB/Swiss-Prot (P03372.2); phosphorylation site"
     misc_feature    547..549
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="Phosphoserine, by CDK2.
                     /evidence=ECO:0000269|PubMed:10428798; propagated from
                     UniProtKB/Swiss-Prot (P03372.2); phosphorylation site"
     misc_feature    583..585
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14764652; propagated from
                     UniProtKB/Swiss-Prot (P03372.2); phosphorylation site"
     misc_feature    670..753
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="propagated from UniProtKB/Swiss-Prot (P03372.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    730..732
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:7838153; propagated from
                     UniProtKB/Swiss-Prot (P03372.2); phosphorylation site"
     misc_feature    784..1161
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="propagated from UniProtKB/Swiss-Prot (P03372.2);
                     Region: Mediates interaction with DNTTIP2.
                     /evidence=ECO:0000269|PubMed:15047147"
     misc_feature    982..1161
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="propagated from UniProtKB/Swiss-Prot (P03372.2);
                     Region: Hinge"
     misc_feature    1006..1077
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="propagated from UniProtKB/Swiss-Prot (P03372.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1009..1011
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="Asymmetric dimethylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:18657504,
                     ECO:0000269|PubMed:24498420; propagated from
                     UniProtKB/Swiss-Prot (P03372.2); methylation site"
     misc_feature    1015..2016
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="propagated from UniProtKB/Swiss-Prot (P03372.2);
                     Region: Interaction with AKAP13.
                     /evidence=ECO:0000269|PubMed:9627117"
     misc_feature    1021..2016
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="propagated from UniProtKB/Swiss-Prot (P03372.2);
                     Region: Self-association"
     misc_feature    1162..2016
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="propagated from UniProtKB/Swiss-Prot (P03372.2);
                     Region: Transactivation AF-2"
     misc_feature    1840..1842
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="Phosphotyrosine, by Tyr-kinases.
                     /evidence=ECO:0000269|PubMed:7539106; propagated from
                     UniProtKB/Swiss-Prot (P03372.2); phosphorylation site"
     misc_feature    1888..1950
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="propagated from UniProtKB/Swiss-Prot (P03372.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      6309..6314
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="hexamer: AATAAA"
     polyA_site      6327
                     /gene="ESR1"
                     /gene_synonym="ER; Era; ESR; ESRA; ESTRR; NR3A1"
                     /note="major polyA site"
ORIGIN
        1 agctggcgga gggcgttcgt cctgggactg cacttgctcc cgtcgggtcg cccggcttca
       61 ccggacccgc aggctcccgg ggcagggccg gggccagagc tcgcgtgtcg gcgggacatg
      121 cgctgcgtcg cctctaacct cgggctgtgc tctttttcca ggtggcccgc cggtttctga
      181 gccttctgcc ctgcggggac acggtctgca ccctgcccgc ggccacggac catgaccatg
      241 accctccaca ccaaagcatc tgggatggcc ctactgcatc agatccaagg gaacgagctg
      301 gagcccctga accgtccgca gctcaagatc cccctggagc ggcccctggg cgaggtgtac
      361 ctggacagca gcaagcccgc cgtgtacaac taccccgagg gcgccgccta cgagttcaac
      421 gccgcggccg ccgccaacgc gcaggtctac ggtcagaccg gcctccccta cggccccggg
      481 tctgaggctg cggcgttcgg ctccaacggc ctggggggtt tccccccact caacagcgtg
      541 tctccgagcc cgctgatgct actgcacccg ccgccgcagc tgtcgccttt cctgcagccc
      601 cacggccagc aggtgcccta ctacctggag aacgagccca gcggctacac ggtgcgcgag
      661 gccggcccgc cggcattcta caggccaaat tcagataatc gacgccaggg tggcagagaa
      721 agattggcca gtaccaatga caagggaagt atggctatgg aatctgccaa ggagactcgc
      781 tactgtgcag tgtgcaatga ctatgcttca ggctaccatt atggagtctg gtcctgtgag
      841 ggctgcaagg ccttcttcaa gagaagtatt caaggacata acgactatat gtgtccagcc
      901 accaaccagt gcaccattga taaaaacagg aggaagagct gccaggcctg ccggctccgt
      961 aaatgctacg aagtgggaat gatgaaaggt gggatacgaa aagaccgaag aggagggaga
     1021 atgttgaaac acaagcgcca gagagatgat ggggagggca ggggtgaagt ggggtctgct
     1081 ggagacatga gagctgccaa cctttggcca agcccgctca tgatcaaacg ctctaagaag
     1141 aacagcctgg ccttgtccct gacggccgac cagatggtca gtgccttgtt ggatgctgag
     1201 cccccgatac tctattccga gtatgatcct accagaccct tcagtgaagc ttcgatgatg
     1261 ggcttactga ccaacctggc agacagggag ctggttcaca tgatcaactg ggcgaagagg
     1321 gtgccaggct ttgtggattt gaccctccat gatcaggtcc accttctaga atgtgcctgg
     1381 ctagagatcc tgatgattgg tctcgtctgg cgctccatgg agcacccagg gaagctactg
     1441 tttgctccta acttgctctt ggacaggaac cagggaaaat gtgtagaggg catggtggag
     1501 atcttcgaca tgctgctggc tacatcatct cggttccgca tgatgaatct gcagggagag
     1561 gagtttgtgt gcctcaaatc tattattttg cttaattctg gagtgtacac atttctgtcc
     1621 agcaccctga agtctctgga agagaaggac catatccacc gagtcctgga caagatcaca
     1681 gacactttga tccacctgat ggccaaggca ggcctgaccc tgcagcagca gcaccagcgg
     1741 ctggcccagc tcctcctcat cctctcccac atcaggcaca tgagtaacaa aggcatggag
     1801 catctgtaca gcatgaagtg caagaacgtg gtgcccctct atgacctgct gctggagatg
     1861 ctggacgccc accgcctaca tgcgcccact agccgtggag gggcatccgt ggaggagacg
     1921 gaccaaagcc acttggccac tgcgggctct acttcatcgc attccttgca aaagtattac
     1981 atcacggggg aggcagaggg tttccctgcc acggtctgag agctccctgg ctcccacacg
     2041 gttcagataa tccctgctgc attttaccct catcatgcac cactttagcc aaattctgtc
     2101 tcctgcatac actccggcat gcatccaaca ccaatggctt tctagatgag tggccattca
     2161 tttgcttgct cagttcttag tggcacatct tctgtcttct gttgggaaca gccaaaggga
     2221 ttccaaggct aaatctttgt aacagctctc tttccccctt gctatgttac taagcgtgag
     2281 gattcccgta gctcttcaca gctgaactca gtctatgggt tggggctcag ataactctgt
     2341 gcatttaagc tacttgtaga gacccaggcc tggagagtag acattttgcc tctgataagc
     2401 actttttaaa tggctctaag aataagccac agcaaagaat ttaaagtggc tcctttaatt
     2461 ggtgacttgg agaaagctag gtcaagggtt tattatagca ccctcttgta ttcctatggc
     2521 aatgcatcct tttatgaaag tggtacacct taaagctttt atatgactgt agcagagtat
     2581 ctggtgattg tcaattcatt ccccctatag gaatacaagg ggcacacagg gaaggcagat
     2641 cccctagttg gcaagactat tttaacttga tacactgcag attcagatgt gctgaaagct
     2701 ctgcctctgg ctttccggtc atgggttcca gttaattcat gcctcccatg gacctatgga
     2761 gagcagcaag ttgatcttag ttaagtctcc ctatatgagg gataagttcc tgatttttgt
     2821 ttttattttt gtgttacaaa agaaagccct ccctccctga acttgcagta aggtcagctt
     2881 caggacctgt tccagtgggc actgtacttg gatcttcccg gcgtgtgtgt gccttacaca
     2941 ggggtgaact gttcactgtg gtgatgcatg atgagggtaa atggtagttg aaaggagcag
     3001 gggccctggt gttgcattta gccctggggc atggagctga acagtacttg tgcaggattg
     3061 ttgtggctac tagagaacaa gagggaaagt agggcagaaa ctggatacag ttctgaggca
     3121 cagccagact tgctcagggt ggccctgcca caggctgcag ctacctagga acattccttg
     3181 cagaccccgc attgcccttt gggggtgccc tgggatccct ggggtagtcc agctcttctt
     3241 catttcccag cgtggccctg gttggaagaa gcagctgtca cagctgctgt agacagctgt
     3301 gttcctacaa ttggcccagc accctggggc acgggagaag ggtggggacc gttgctgtca
     3361 ctactcaggc tgactggggc ctggtcagat tacgtatgcc cttggtggtt tagagataat
     3421 ccaaaatcag ggtttggttt ggggaagaaa atcctccccc ttcctccccc gccccgttcc
     3481 ctaccgcctc cactcctgcc agctcatttc cttcaatttc ctttgaccta taggctaaaa
     3541 aagaaaggct cattccagcc acagggcagc cttccctggg cctttgcttc tctagcacaa
     3601 ttatgggtta cttccttttt cttaacaaaa aagaatgttt gatttcctct gggtgacctt
     3661 attgtctgta attgaaaccc tattgagagg tgatgtctgt gttagccaat gacccaggtg
     3721 agctgctcgg gcttctcttg gtatgtcttg tttggaaaag tggatttcat tcatttctga
     3781 ttgtccagtt aagtgatcac caaaggactg agaatctggg agggcaaaaa aaaaaaaaaa
     3841 gtttttatgt gcacttaaat ttggggacaa ttttatgtat ctgtgttaag gatatgttta
     3901 agaacataat tcttttgttg ctgtttgttt aagaagcacc ttagtttgtt taagaagcac
     3961 cttatatagt ataatatata tttttttgaa attacattgc ttgtttatca gacaattgaa
     4021 tgtagtaatt ctgttctgga tttaatttga ctgggttaac atgcaaaaac caaggaaaaa
     4081 tatttagttt tttttttttt ttttgtatac ttttcaagct accttgtcat gtatacagtc
     4141 atttatgcct aaagcctggt gattattcat ttaaatgaag atcacatttc atatcaactt
     4201 ttgtatccac agtagacaaa atagcactaa tccagatgcc tattgttgga tactgaatga
     4261 cagacaatct tatgtagcaa agattatgcc tgaaaaggaa aattattcag ggcagctaat
     4321 tttgctttta ccaaaatatc agtagtaata tttttggaca gtagctaatg ggtcagtggg
     4381 ttctttttaa tgtttatact tagattttct tttaaaaaaa ttaaaataaa acaaaaaaaa
     4441 atttctagga ctagacgatg taataccagc taaagccaaa caattataca gtggaaggtt
     4501 ttacattatt catccaatgt gtttctattc atgttaagat actactacat ttgaagtggg
     4561 cagagaacat cagatgattg aaatgttcgc ccaggggtct ccagcaactt tggaaatctc
     4621 tttgtatttt tacttgaagt gccactaatg gacagcagat attttctggc tgatgttggt
     4681 attgggtgta ggaacatgat ttaaaaaaaa actcttgcct ctgctttccc ccactctgag
     4741 gcaagttaaa atgtaaaaga tgtgatttat ctggggggct caggtatggt ggggaagtgg
     4801 attcaggaat ctggggaatg gcaaatatat taagaagagt attgaaagta tttggaggaa
     4861 aatggttaat tctgggtgtg caccagggtt cagtagagtc cacttctgcc ctggagacca
     4921 caaatcaact agctccattt acagccattt ctaaaatggc agcttcagtt ctagagaaga
     4981 aagaacaaca tcagcagtaa agtccatgga atagctagtg gtctgtgttt cttttcgcca
     5041 ttgcctagct tgccgtaatg attctataat gccatcatgc agcaattatg agaggctagg
     5101 tcatccaaag agaagaccct atcaatgtag gttgcaaaat ctaaccccta aggaagtgca
     5161 gtctttgatt tgatttccct agtaaccttg cagatatgtt taaccaagcc atagcccatg
     5221 ccttttgagg gctgaacaaa taagggactt actgataatt tacttttgat cacattaagg
     5281 tgttctcacc ttgaaatctt atacactgaa atggccattg atttaggcca ctggcttaga
     5341 gtactccttc ccctgcatga cactgattac aaatactttc ctattcatac tttccaatta
     5401 tgagatggac tgtgggtact gggagtgatc actaacacca tagtaatgtc taatattcac
     5461 aggcagatct gcttggggaa gctagttatg tgaaaggcaa atagagtcat acagtagctc
     5521 aaaaggcaac cataattctc tttggtgcag gtcttgggag cgtgatctag attacactgc
     5581 accattccca agttaatccc ctgaaaactt actctcaact ggagcaaatg aactttggtc
     5641 ccaaatatcc atcttttcag tagcgttaat tatgctctgt ttccaactgc atttcctttc
     5701 caattgaatt aaagtgtggc ctcgttttta gtcatttaaa attgttttct aagtaattgc
     5761 tgcctctatt atggcacttc aattttgcac tgtcttttga gattcaagaa aaatttctat
     5821 tctttttttt gcatccaatt gtgcctgaac ttttaaaata tgtaaatgct gccatgttcc
     5881 aaacccatcg tcagtgtgtg tgtttagagc tgtgcaccct agaaacaaca tattgtccca
     5941 tgagcaggtg cctgagacac agaccccttt gcattcacag agaggtcatt ggttatagag
     6001 acttgaatta ataagtgaca ttatgccagt ttctgttctc tcacaggtga taaacaatgc
     6061 tttttgtgca ctacatactc ttcagtgtag agctcttgtt ttatgggaaa aggctcaaat
     6121 gccaaattgt gtttgatgga ttaatatgcc cttttgccga tgcatactat tactgatgtg
     6181 actcggtttt gtcgcagctt tgctttgttt aatgaaacac acttgtaaac ctcttttgca
     6241 ctttgaaaaa gaatccagcg ggatgctcga gcacctgtaa acaattttct caacctattt
     6301 gatgttcaaa taaagaatta aactaaa
//
LOCUS       NM_000126               2289 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens electron transfer flavoprotein subunit alpha (ETFA),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000126
VERSION     NM_000126.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2289)
  AUTHORS   Chevalier B, Baatallah N, Najm M, Castanier S, Jung V, Pranke I,
            Golec A, Stoven V, Marullo S, Antigny F, Guerrera IC,
            Sermet-Gaudelus I, Edelman A and Hinzpeter A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures Identify
            Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2289)
  AUTHORS   Lim SH, Snider J, Birimberg-Schwartz L, Ip W, Serralha JC, Botelho
            HM, Lopes-Pacheco M, Pinto MC, Moutaoufik MT, Zilocchi M, Laselva O,
            Esmaeili M, Kotlyar M, Lyakisheva A, Tang P, Lopez Vazquez L, Akula
            I, Aboualizadeh F, Wong V, Grozavu I, Opacak-Bernardi T, Yao Z,
            Mendoza M, Babu M, Jurisica I, Gonska T, Bear CE, Amaral MD and
            Stagljar I.
  TITLE     CFTR interactome mapping using the mammalian membrane two-hybrid
            high-throughput screening system
  JOURNAL   Mol Syst Biol 18 (2), e10629 (2022)
   PUBMED   35156780
REFERENCE   3  (bases 1 to 2289)
  AUTHORS   Chen W, Di Z, Chen Z, Nan K, Gu J, Ge F, Liu J, Zhang H and Miao C.
  TITLE     NBPF4 mitigates progression in colorectal cancer through the
            regulation of EZH2-associated ETFA
  JOURNAL   J Cell Mol Med 25 (18), 9038-9050 (2021)
   PUBMED   34405537
  REMARK    GeneRIF: NBPF4 mitigates progression in colorectal cancer through
            the regulation of EZH2-associated ETFA.
REFERENCE   4  (bases 1 to 2289)
  AUTHORS   Zhou D, Ye M, Hu Z, Zhang Y, Zhu L, Yang R and Huang X.
  TITLE     Screening of multiple acyl-CoA dehydrogenase deficiency in newborns
            and follow-up of patients
  JOURNAL   Zhejiang Da Xue Xue Bao Yi Xue Ban 50 (4), 454-462 (2021)
   PUBMED   34704421
  REMARK    GeneRIF: Screening of multiple acyl-CoA dehydrogenase deficiency in
            newborns and follow-up of patients.
REFERENCE   5  (bases 1 to 2289)
  AUTHORS   Chautard R, Laroche-Raynaud C, Lia AS, Chazelas P, Derouault P,
            Sturtz F, Baaj Y, Veauville-Merllie A, Acquaviva C, Favreau F and
            Faye PA.
  TITLE     A case report of a mild form of multiple acyl-CoA dehydrogenase
            deficiency due to compound heterozygous mutations in the ETFA gene
  JOURNAL   BMC Med Genomics 13 (1), 12 (2020)
   PUBMED   31996215
  REMARK    GeneRIF: A case report of a mild form of multiple acyl-CoA
            dehydrogenase deficiency due to compound heterozygous mutations in
            the ETFA gene. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2289)
  AUTHORS   Prasun,P.
  TITLE     Multiple Acyl-CoA Dehydrogenase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   32550677
REFERENCE   7  (bases 1 to 2289)
  AUTHORS   Freneaux E, Sheffield VC, Molin L, Shires A and Rhead WJ.
  TITLE     Glutaric acidemia type II. Heterogeneity in beta-oxidation flux,
            polypeptide synthesis, and complementary DNA mutations in the alpha
            subunit of electron transfer flavoprotein in eight patients
  JOURNAL   J Clin Invest 90 (5), 1679-1686 (1992)
   PUBMED   1430199
REFERENCE   8  (bases 1 to 2289)
  AUTHORS   Indo Y, Glassberg R, Yokota I and Tanaka K.
  TITLE     Molecular characterization of variant alpha-subunit of electron
            transfer flavoprotein in three patients with glutaric acidemia type
            II--and identification of glycine substitution for valine-157 in the
            sequence of the precursor, producing an unstable mature protein in a
            patient
  JOURNAL   Am J Hum Genet 49 (3), 575-580 (1991)
   PUBMED   1882842
REFERENCE   9  (bases 1 to 2289)
  AUTHORS   Finocchiaro G, Ito M, Ikeda Y and Tanaka K.
  TITLE     Molecular cloning and nucleotide sequence of cDNAs encoding the
            alpha-subunit of human electron transfer flavoprotein
  JOURNAL   J Biol Chem 263 (30), 15773-15780 (1988)
   PUBMED   3170610
REFERENCE   10  (bases 1 to 2289)
  AUTHORS   Frerman FE.
  TITLE     Acyl-CoA dehydrogenases, electron transfer flavoprotein and electron
            transfer flavoprotein dehydrogenase
  JOURNAL   Biochem Soc Trans 16 (3), 416-418 (1988)
   PUBMED   3053288
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK292979.1, SRR1803614.62452.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2153946,
            SAMEA2155550 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000557943.6/ ENSP00000452762.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292979.1, AA557337.1,
            BG261160.1 and AC091100.14.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000126.3.
            Summary: ETFA participates in catalyzing the initial step of the
            mitochondrial fatty acid beta-oxidation. It shuttles electrons
            between primary flavoprotein dehydrogenases and the membrane-bound
            electron transfer flavoprotein ubiquinone oxidoreductase. Defects
            in electron-transfer-flavoprotein have been implicated in type II
            glutaricaciduria in which multiple acyl-CoA dehydrogenase
            deficiencies result in large excretion of glutaric, lactic,
            ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric
            acids. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2289
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.2-q24.3"
     gene            1..2289
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="electron transfer flavoprotein subunit alpha"
                     /db_xref="GeneID:2108"
                     /db_xref="HGNC:HGNC:3481"
                     /db_xref="MIM:608053"
     misc_feature    7..9
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="upstream in-frame stop codon"
     CDS             82..1083
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="isoform a is encoded by transcript variant 1;
                     glutaric aciduria II; electron transfer flavoprotein
                     subunit alpha, mitochondrial; electron transfer
                     flavoprotein, alpha polypeptide; electron transfer
                     flavoprotein alpha subunit; alpha-ETF; epididymis secretory
                     sperm binding protein; multiple acyl-CoA dehydrogenase
                     deficiency"
                     /codon_start=1
                     /product="electron transfer flavoprotein subunit alpha,
                     mitochondrial isoform a"
                     /protein_id="NP_000117.1"
                     /db_xref="CCDS:CCDS32299.1"
                     /db_xref="GeneID:2108"
                     /db_xref="HGNC:HGNC:3481"
                     /db_xref="MIM:608053"
                     /translation="MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAAT
                     RLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFN
                     YTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKV
                     KVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGG
                     RGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGIS
                     GAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK"
     misc_feature    139..693
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="propagated from UniProtKB/Swiss-Prot (P13804.1);
                     Region: Domain I. /evidence=ECO:0000269|PubMed:8962055"
     misc_feature    256..258
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q99LC5; propagated from
                     UniProtKB/Swiss-Prot (P13804.1); acetylation site"
     misc_feature    265..267
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q99LC5; propagated from
                     UniProtKB/Swiss-Prot (P13804.1); acetylation site"
     misc_feature    286..288
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q99LC5; propagated from
                     UniProtKB/Swiss-Prot (P13804.1); acetylation site"
     misc_feature    304..306
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q99LC5; propagated from
                     UniProtKB/Swiss-Prot (P13804.1); acetylation site"
     misc_feature    334..336
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q99LC5; propagated from
                     UniProtKB/Swiss-Prot (P13804.1); acetylation site"
     misc_feature    358..360
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q99LC5; propagated from
                     UniProtKB/Swiss-Prot (P13804.1); phosphorylation site"
     misc_feature    382..384
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q99LC5; propagated from
                     UniProtKB/Swiss-Prot (P13804.1); acetylation site"
     misc_feature    496..498
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q99LC5; propagated from
                     UniProtKB/Swiss-Prot (P13804.1); acetylation site"
     misc_feature    499..501
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P13804.1); phosphorylation site"
     misc_feature    553..555
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q99LC5; propagated from
                     UniProtKB/Swiss-Prot (P13804.1); acetylation site"
     misc_feature    571..573
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q99LC5; propagated from
                     UniProtKB/Swiss-Prot (P13804.1); acetylation site"
     misc_feature    688..690
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q99LC5; propagated from
                     UniProtKB/Swiss-Prot (P13804.1); acetylation site"
     misc_feature    694..1080
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="propagated from UniProtKB/Swiss-Prot (P13804.1);
                     Region: Domain II. /evidence=ECO:0000269|PubMed:8962055"
     misc_feature    757..759
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q99LC5; propagated from
                     UniProtKB/Swiss-Prot (P13804.1); acetylation site"
     misc_feature    775..777
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q99LC5; propagated from
                     UniProtKB/Swiss-Prot (P13804.1); acetylation site"
     regulatory      1320..1325
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="hexamer: AATAAA"
     polyA_site      1348
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="major polyA site"
     polyA_site      1382
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
     regulatory      1390..1395
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="hexamer: AGTAAA"
     polyA_site      1410
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
     regulatory      2266..2271
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
                     /note="hexamer: TATAAA"
     polyA_site      2289
                     /gene="ETFA"
                     /gene_synonym="EMA; GA2; MADD"
ORIGIN
        1 attaggtgac tggctgaggc ggcgccagtt ggccgggcac ggggctgctg taaggccgag
       61 gttgcggcgg aagcggagac catgttccga gcggcggctc cggggcagct ccggcgggcg
      121 gcctcattgc tacgatttca gagtaccctg gtaatagctg agcatgcaaa tgattcccta
      181 gcacccatta ctttaaatac cattactgca gccacacgcc ttggaggtga agtgtcctgc
      241 ttagtagctg gaaccaaatg tgacaaggtg gcacaagatc tctgtaaagt agcaggcata
      301 gcaaaagttc tggtggctca gcatgatgtg tacaaaggcc tacttccaga ggaactgaca
      361 ccattgattt tggcaactca gaagcagttc aattacacac acatctgtgc tggagcatct
      421 gccttcggaa agaacctttt gcccagagta gcagccaaac ttgaggttgc cccgatttct
      481 gacatcattg caatcaagtc acctgacaca tttgtgagaa ctatttatgc aggaaatgct
      541 ctatgtacag tgaagtgtga tgagaaagtg aaagtgtttt ctgtccgtgg aacatccttt
      601 gatgctgcag caacaagtgg cggtagtgcc agttcagaaa aggcatcaag tacttcacca
      661 gtggaaatat cagagtggct tgaccagaaa ttaacaaaaa gtgatcgacc agagctaaca
      721 ggtgccaaag tggtggtatc tggtggtcga ggcttgaaga gtggagagaa ctttaagttg
      781 ttatatgact tggcagatca actacatgct gcagttggtg cttcccgtgc tgctgttgat
      841 gctggctttg ttcccaatga catgcaagtt ggacagacgg gaaaaatagt agcaccagaa
      901 ctttatattg ctgttggaat atctggagcc atccaacatt tagctgggat gaaagacagc
      961 aagacaattg tggcaattaa taaagaccca gaagctccaa ttttccaagt ggcagattat
     1021 ggaatagttg cagatttatt taaggtagtt cctgaaatga ctgagatatt gaagaaaaaa
     1081 tgaatcagga tcatgcctta aaaagaaaac ttttgttaaa gtattccact gaaatcacag
     1141 atatttgtgg gtattataac aatcattgga aagcatggag agctacattt cataatttga
     1201 gggaaaattt ctaacagatg ccagaatgct tgtttatggg attgctgtgt ttccttttaa
     1261 ttatttgtgg ttccaaacaa ttattgtttg aactttttaa attctgtact aaaatctata
     1321 ataaagcttt tccacagctt taaaactatc agaaatatgc ctagcctcta gagaaaattg
     1381 aagaaaagga gtaaaaattt tgtttattta tttatttttt tgcctttctt gttcatggag
     1441 agctctatgt tttaggaaga ttgtaaacat gattgtctcc accagcctaa tcaacctact
     1501 aatctcattg ttgaagggca aacttcatag gagaaggtaa ctgaattggc aagtgcagag
     1561 ttaaaaaagc acggctataa agcatgaata ttatcttaaa catactccag tcttcagaag
     1621 accatagcta atgtgacaaa agcagacctg acttaaacct gacccagctc catgtattta
     1681 gttggcttaa ggtaaatttc attttccgtt taattttaag gttttgtcag tttataggac
     1741 ttttgtctgt aaaggaggga gagtggagga ggggctgctt tgagacagca tggcctctga
     1801 tgcaagcaga tagtttgatg ttattataaa cattcaaaat cctgtgcaga gaatgctcta
     1861 gcctttcttt tgccttctgt tggcttcttt tgggctctct taggaagcac ccaggcctgt
     1921 gtagtcacct ctggcactct cattctgctg cccagggcac agctgaggtc caagagtgtc
     1981 accagggctg cagctggtgt ggatgcaggc ccaagagcag aggctggtga ggctttgaac
     2041 aggcctgcag gaaggcgtgg gtaggtaggt gagtagaaca aagagggctg ccctcctgaa
     2101 tcagatctgc agaagtagga gtagtgacct ggatcaagca gacagtaggg aagagaaggg
     2161 aagtgataag tgatggaggt ggctagagtg cctttgtgtg accagcctgg ggcccttccc
     2221 cagctgacta gtgaaccctt tctgatttgt gtcacaatca gttgctataa aacactttta
     2281 aaagttgta
//
LOCUS       NM_000127               8243 bp    mRNA    linear   PRI 03-APR-2023
DEFINITION  Homo sapiens exostosin glycosyltransferase 1 (EXT1), mRNA.
ACCESSION   NM_000127
VERSION     NM_000127.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8243)
  AUTHORS   Pfeifer V, Weber H, Wang Y, Schlesinger M, Gorzelanny C and Bendas
            G.
  TITLE     Exostosin 1 Knockdown Induces Chemoresistance in MV3 Melanoma Cells
            by Upregulating JNK and MEK/ERK Signaling
  JOURNAL   Int J Mol Sci 24 (6), 5452 (2023)
   PUBMED   36982528
  REMARK    GeneRIF: Exostosin 1 Knockdown Induces Chemoresistance in MV3
            Melanoma Cells by Upregulating JNK and MEK/ERK Signaling.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 8243)
  AUTHORS   Ajmal M, Muhammad H, Nasir M, Shoaib M, Malik SA and Ullah I.
  TITLE     Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency
            Associated with Hereditary Multiple Exostoses in a Pakistani Family
  JOURNAL   Medicina (Kaunas) 59 (1), 100 (2022)
   PUBMED   36676722
  REMARK    GeneRIF: Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency
            Associated with Hereditary Multiple Exostoses in a Pakistani Family.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 8243)
  AUTHORS   Iwakura T, Ema C, Isobe S, Fujikura T, Ohashi N, Kato A and Yasuda
            H.
  TITLE     Prevalence of neural epidermal growth factor-like 1- and exostosin
            1/exostosin 2-associated membranous nephropathy: a single-center
            retrospective study in Japan
  JOURNAL   Sci Rep 12 (1), 2967 (2022)
   PUBMED   35194125
  REMARK    GeneRIF: Prevalence of neural epidermal growth factor-like 1- and
            exostosin 1/exostosin 2-associated membranous nephropathy: a
            single-center retrospective study in Japan. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 8243)
  AUTHORS   Ludecke HJ, Ahn J, Lin X, Hill A, Wagner MJ, Schomburg L, Horsthemke
            B and Wells DE.
  TITLE     Genomic organization and promoter structure of the human EXT1 gene
  JOURNAL   Genomics 40 (2), 351-354 (1997)
   PUBMED   9119404
REFERENCE   5  (bases 1 to 8243)
  AUTHORS   Ahn J, Ludecke HJ, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke
            B and Wells DE.
  TITLE     Cloning of the putative tumour suppressor gene for hereditary
            multiple exostoses (EXT1)
  JOURNAL   Nat Genet 11 (2), 137-143 (1995)
   PUBMED   7550340
REFERENCE   6  (bases 1 to 8243)
  AUTHORS   Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA,
            Puffenberger E, Conrad EU, Schmale G, Schellenberg G et al.
  TITLE     Genetic heterogeneity in families with hereditary multiple exostoses
  JOURNAL   Am J Hum Genet 53 (1), 71-79 (1993)
   PUBMED   8317501
REFERENCE   7  (bases 1 to 8243)
  AUTHORS   Maas,S., Shaw,A., Bikker,H. and Hennekam,R.C.M.
  TITLE     Trichorhinophalangeal Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   28426188
REFERENCE   8  (bases 1 to 8243)
  AUTHORS   Wuyts,W., Schmale,G.A., Chansky,H.A. and Raskind,W.H.
  TITLE     Hereditary Multiple Osteochondromas
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301413
REFERENCE   9  (bases 1 to 8243)
  AUTHORS   Ogle RF, Dalzell P, Turner G, Wass D and Yip MY.
  TITLE     Multiple exostoses in a patient with t(8;11)(q24.11;p15.5)
  JOURNAL   J Med Genet 28 (12), 881-883 (1991)
   PUBMED   1757967
REFERENCE   10  (bases 1 to 8243)
  AUTHORS   Parrish JE, Wagner MJ, Hecht JT, Scott CI Jr and Wells DE.
  TITLE     Molecular analysis of overlapping chromosomal deletions in patients
            with Langer-Giedion syndrome
  JOURNAL   Genomics 11 (1), 54-61 (1991)
   PUBMED   1684953
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: S79639.1, BC001174.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378204.7/ ENSP00000367446.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003476.2, BC001174.1 and
            AC113188.6.
            On Nov 21, 2019 this sequence version replaced NM_000127.2.
            Summary: This gene encodes an endoplasmic reticulum-resident type
            II transmembrane glycosyltransferase involved in the chain
            elongation step of heparan sulfate biosynthesis. Mutations in this
            gene cause the type I form of multiple exostoses. [provided by
            RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8243
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.11"
     gene            1..8243
                     /gene="EXT1"
                     /gene_synonym="EXT; LGCR; LGS; TRPS2; TTV"
                     /note="exostosin glycosyltransferase 1"
                     /db_xref="GeneID:2131"
                     /db_xref="HGNC:HGNC:3512"
                     /db_xref="MIM:608177"
     misc_feature    736..738
                     /gene="EXT1"
                     /gene_synonym="EXT; LGCR; LGS; TRPS2; TTV"
                     /note="upstream in-frame stop codon"
     CDS             781..3021
                     /gene="EXT1"
                     /gene_synonym="EXT; LGCR; LGS; TRPS2; TTV"
                     /EC_number="2.4.1.225"
                     /EC_number="2.4.1.224"
                     /note="exostoses (multiple) 1;
                     Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-
                     acetylglucosaminyltransferase;
                     N-acetylglucosaminyl-proteoglycan
                     4-beta-glucuronosyltransferase; Langer-Giedion syndrome
                     chromosome region; multiple exostoses protein 1; putative
                     tumor suppressor protein EXT1;
                     glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-
                     acetylglucosaminyl-proteoglycan
                     4-alpha-N-acetylglucosaminyltransferase"
                     /codon_start=1
                     /product="exostosin-1"
                     /protein_id="NP_000118.2"
                     /db_xref="CCDS:CCDS6324.1"
                     /db_xref="GeneID:2131"
                     /db_xref="HGNC:HGNC:3512"
                     /db_xref="MIM:608177"
                     /translation="MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNG
                     LHHPSPDHFWPRFPDALRPFVPWDQLENEDSSVHISPRQKRDANSSIYKGKKCRMESCF
                     DFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDR
                     DQLSPQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASIS
                     TENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRN
                     ALYHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGR
                     RLGSFRFLEALQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQD
                     KILALRQQTQFLWEAYFSSVEKIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQY
                     SSYLGDFPYYYANLGLKPPSKFTAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLW
                     NCDKPLPAKHRWPATAVPVVVIEGESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVD
                     FAFTVWQSFPERIVGYPARSHFWDNSKERWGYTSKWTNDYSMVLTGAAIYHKYYHYLYS
                     HYLPASLKNMVDQLANCEDILMNFLVSAVTKLPPIKVTQKKQYKETMMGQTSRASRWAD
                     PDHFAQRQSCMNTFASWFGYMPLIHSQMRLDPVLFKDQVSILRKKYRDIERL"
     misc_feature    802..864
                     /gene="EXT1"
                     /gene_synonym="EXT; LGCR; LGS; TRPS2; TTV"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16394.2);
                     transmembrane region"
     misc_feature    1045..1047
                     /gene="EXT1"
                     /gene_synonym="EXT; LGCR; LGS; TRPS2; TTV"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16394.2); glycosylation site"
     misc_feature    1768..1770
                     /gene="EXT1"
                     /gene_synonym="EXT; LGCR; LGS; TRPS2; TTV"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16394.2); glycosylation site"
     regulatory      3339..3344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXT1"
                     /gene_synonym="EXT; LGCR; LGS; TRPS2; TTV"
                     /note="hexamer: ATTAAA"
     polyA_site      3370
                     /gene="EXT1"
                     /gene_synonym="EXT; LGCR; LGS; TRPS2; TTV"
                     /note="major polyA site"
     polyA_site      5166
                     /gene="EXT1"
                     /gene_synonym="EXT; LGCR; LGS; TRPS2; TTV"
     regulatory      8223..8228
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXT1"
                     /gene_synonym="EXT; LGCR; LGS; TRPS2; TTV"
                     /note="hexamer: AATAAA"
     polyA_site      8243
                     /gene="EXT1"
                     /gene_synonym="EXT; LGCR; LGS; TRPS2; TTV"
ORIGIN
        1 aacattcggc gaccgaacgc ggcggtcggc agcgttcgcg cgggggcctg cgaagcgctg
       61 ctcggggccg gcactgcccg cggggaggac gcgccgccgc cgccacccag cgccgccgcc
      121 gccgccgcct ccagccgggc cgccgcgcgt cccgggggcc ggccccgcga gcgcaggagt
      181 aaacaccgcc ggagtcttgg agccgctgca gaagggaata aagagagatg cagggatttg
      241 tgaggttacg gcgccccagc tgcaagatgc actagccggc tgaacccggg atcggctgac
      301 ttgttggaac cggagtgctc tgcacggaga gtggtggatg agttgaagtt gccttcccgg
      361 ggctcatttt ccacgctgcc gagaggaatc cgagaggcaa ggcaatcact tcgtcttgcc
      421 attgattggg tatcgggagc tttttttttc tcccctctct ctttcttttc ctccgtcttg
      481 ttgcatgcaa gaaaattaca gtccgctgct cgcccgccct gggtgcgaga tattcagccc
      541 cgctctctcc cgtgcattgt gcaacccaaa gatgaaagac cgaaggggag aaagttaaag
      601 aaatcgccca catgcgctgg atcagtccac ggcttgggga aaggcatcca gagaaggtgg
      661 gagcggagag tttgaagtct ttacaggcgg gaagatggcg gactggagct gaaagtgttg
      721 attgggaaac ttgggtgatt cttgtgttta tttacaatcc tcttgaccca ggcaggacac
      781 atgcaggcca aaaaacgcta tttcatcctg ctctcagctg gctcttgtct cgcccttttg
      841 ttttatttcg gaggcttgca gtttagggca tcgaggagcc acagccggag agaagaacac
      901 agcggtagga atggcttgca ccaccccagt ccggatcatt tctggccccg cttcccggac
      961 gctctgcgcc ccttcgttcc ttgggatcaa ttggaaaacg aggattccag cgtgcacatt
     1021 tccccccggc agaagcgaga tgccaactcc agcatctaca aaggcaagaa gtgccgcatg
     1081 gagtcctgct tcgatttcac cctttgcaag aaaaacggct tcaaagtcta cgtataccca
     1141 cagcaaaaag gggagaaaat cgccgaaagt taccaaaaca ttctagcggc catcgagggc
     1201 tccaggttct acacctcgga ccccagccag gcgtgcctct ttgtcctgag tctggatact
     1261 ttagacagag accagttgtc acctcagtat gtgcacaatt tgagatccaa agtgcagagt
     1321 ctccacttgt ggaacaatgg taggaatcat ttaattttta atttatattc cggcacttgg
     1381 cctgactaca ccgaggacgt ggggtttgac atcggccagg cgatgctggc caaagccagc
     1441 atcagtactg aaaacttccg acccaacttt gatgtttcta ttcccctctt ttctaaggat
     1501 catcccagga caggagggga gagggggttt ttgaagttca acaccatccc tcctctcagg
     1561 aagtacatgc tggtattcaa ggggaagagg tacctgacag ggataggatc agacaccagg
     1621 aatgccttat atcacgtcca taacggggag gacgttgtgc tcctcaccac ctgcaagcat
     1681 ggcaaagact ggcaaaagca caaggattct cgctgtgaca gagacaacac cgagtatgag
     1741 aagtatgatt atcgggaaat gctgcacaat gccactttct gtctggttcc tcgtggtcgc
     1801 aggcttgggt ccttcagatt cctggaggct ttgcaggctg cctgcgtccc tgtgatgctc
     1861 agcaatggat gggagttgcc attctctgaa gtgattaatt ggaaccaagc tgccgtcata
     1921 ggcgatgaga gattgttatt acagattcct tctacaatca ggtctattca tcaggataaa
     1981 atcctagcac ttagacagca gacacaattc ttgtgggagg cttatttttc ttcagttgag
     2041 aagattgtat taactacact agagattatt caggacagaa tattcaagca catatcacgt
     2101 aacagtttaa tatggaacaa acatcctgga ggattgttcg tactaccaca gtattcatct
     2161 tatctgggag attttcctta ctactatgct aatttaggtt taaagccccc ctccaaattc
     2221 actgcagtca tccatgcggt gacccccctg gtctctcagt cccagccagt gttgaagctt
     2281 ctcgtggctg cagccaagtc ccagtactgt gcccagatca tagttctatg gaattgtgac
     2341 aagcccctac cagccaaaca ccgctggcct gccactgctg tgcctgtcgt cgtcattgaa
     2401 ggagagagca aggttatgag cagccgtttt ctgccctacg acaacatcat cacagacgcc
     2461 gtgctcagcc ttgacgagga cacggtgctt tcaacaacag aggtggattt cgccttcaca
     2521 gtgtggcaga gcttccctga gaggattgtg gggtaccccg cgcgcagcca cttctgggat
     2581 aactctaagg agcggtgggg atacacatca aagtggacga acgactactc catggtgttg
     2641 acaggagctg ctatttacca caaatattat cactacctat actcccatta cctgccagcc
     2701 agcctgaaga acatggtgga ccaattggcc aattgtgagg acattctcat gaacttcctg
     2761 gtgtctgctg tgacaaaatt gcctccaatc aaagtgaccc agaagaagca gtataaggag
     2821 acaatgatgg gacagacttc tcgggcttcc cgttgggctg accctgacca ctttgcccag
     2881 cgacagagct gcatgaatac gtttgccagc tggtttggct acatgccgct gatccactct
     2941 cagatgaggc tcgaccccgt cctctttaaa gaccaggtct ctattttgag gaagaaatac
     3001 cgagacattg agcgactttg aggaatccgg ctgagtgggg gaggggaagc aagaagggat
     3061 gggggtcaag ctgctctctc ttcccagtgc agatccactc atcagcagag ccagattgtg
     3121 ccaactatcc aaaaacttag atgagcagaa tgacaaaaaa aaaaaggcca atgagaactc
     3181 aactcctggc tcctgggact gcaccagact gctccaaact cacctcactg gcttctgtgt
     3241 cccaagacta ggttgtgtac agtttaatta tggaacatta aataattatt tttgaaatga
     3301 ttgctatgca ggtttaaact tttttaatga tcaaaactat taaaaaccag agttctttgt
     3361 ttaatcaaaa ttgtgttggt tgtgaatatt tcaaagctgc tattcctttt cccacagaca
     3421 tcattgtcat ggccatgtag ggtgccctgc agtttcaaaa gctcaaactt cgtggaaaac
     3481 acaataagtc actctaccca ttatcaagaa ataactgagc ataagttgta acttcattat
     3541 tcaactttgc cagtgcaaat tgttttccac ttcgaatctt caaatccact tgaactttta
     3601 tctctaaaat gtcgctgcat gaaagaaagt attacgactt ccaggtaggc agttctaact
     3661 gaaatctcta tgtttgagat agatatatat gataatcgtt tttcattggg ggggtggggg
     3721 gaattagtac caagaaaaca ctagtataat taagaaatgt tcagtttgca caaagaacta
     3781 tccagataac ccaccagcat gttagtgaga tggaaataca gacccacaac agtaacccaa
     3841 tacttgcagg ggttgggggc acggttatag attcaaccat tgacctaagt ctgcgtagca
     3901 ctgggaagag gctttggttt agaagccaag gaataatgag tatattgggg agaacagatt
     3961 atttacaaga tgaactcttt aatgtttgtg agaatctcaa gtttcagagt ttctcttttg
     4021 agaaagaaaa aggggtaata aggtagaaat tcacaccaat gaacaagagg attgctgcaa
     4081 agtaactgag gagatgtctc gccattggga ccctaatgcc atttttggtc aaacattgtt
     4141 ttgagcaaga atctggcaaa caaaataatc aacaacaaat gtgaatatag tttcatttac
     4201 ttttaatttt taaatctgtg gaaaagttta gttgtgcttc ttgttaaaaa gaacatttct
     4261 atccctgaaa atgctatctt gggcttatga ttattgttaa actccaagta taaactgaaa
     4321 aaaaaaacat atccctaact ctgttatgaa aaatggagac ttctgatatt aaatgctttc
     4381 ttctacttgg aagaggccag agaaaacagg gaagagaaag acattattga gtttgaccat
     4441 gtattatgct gaataaacaa taagcacttt agagtccctc cctcaaactc tcatacattt
     4501 catatttctt ttccatttat tttcagtttt gttttagaag aaaagttcat cagagaattt
     4561 tgttctgata atttcaagtg gccatcttag gtcagtggaa accgtaagtc cattggactt
     4621 tacctcatcc tttctttgta gacatctggg agaggaagag gagcttgtaa tgatagcacg
     4681 gggatggtgc tgtaaacagg agtgaaagtg tttgtggaag tccagagaag tgactcaaca
     4741 ggctacctag ctgcagaaca aggagtagag cccacatatc cagatggtgt tttgagaggt
     4801 gcgtagacag tgaaattcaa ttaaagagag gattttctcc tcagcctcat gactcagaac
     4861 agctccctaa atacctctct catctaattg gacccatcca tagtccattc tcaaacatgt
     4921 gacattttcc cctaagtaga tgtgattatc tcttaggcat ttgttgaaaa ataattctta
     4981 ggtccatggt gcttgcactt gtgtcttttc tataaaatgt ttggtcttac aggtttcatg
     5041 tcatttaagc tgcacttctc agcaagttaa aagattagca gttaatcttt attcatttgg
     5101 cctttgtgaa tttgtattta aattattttt ttcaggattg gcaaattatt cttgtttctc
     5161 ctttaccaaa aaataaatgc gatattttgt tcaatgaccc caaaaccaac ttgaaactta
     5221 ggtggtcata ttggcttgca aagcaatgtc cctaattgta ccagtcagtc acacaagtgg
     5281 attcaaggac ctgctttgcc agattgacct gtcaccaagc tcacaacaca tatcctccac
     5341 aaacaacatg tgttatgtga agaaaaatgg taattataaa taagaacagg atataacaca
     5401 cctttcatcc actttaaatc tccacagttt cattttatgt cattctctga gcaaatctct
     5461 ttgggatgtg agctagcgtg ttcttctccc atttggaata taaggctggg aatagaacaa
     5521 tgcttaacaa atcagtgaag ctcgacagta atatgtaatt ttaattcagt taggaaagag
     5581 ttgtattgca ttgcaacaag ttgacaaatc atagccatct ctgtagggtg tcaggaatta
     5641 tctcctggtc aactttaatg ataactaggg gtccctaagt gggctaacat gtgctgcatt
     5701 ggagagaagc caagggctga gagtacagtg ccaaccacgt aatgaattgc ttgcagaaat
     5761 tccaaagagg actcagccac ttatggattt ccacacagca tcttttccca gctccacatt
     5821 aagacacagg atcttaaaag taatttttta aaagctggct gtgtatttat ttatatgaaa
     5881 gtgttataaa tatcaaagct tacaaataca ttaatacata tcacctttgt tgaagctagc
     5941 aaaatggctc aaaattgaga ctgtagagaa aaatccatga aataatcacg atagtcatac
     6001 cacaaaagat agcatagcta ggtgggccta cctggtcgta tcaacacact ttcagataga
     6061 tgcttcaaaa aaaaagggaa agcttgttac tggaatctta tgtgcattac agtttaattt
     6121 cttcttgtga caaatggtgc tcaaagaagg atcaatccgg ttgcatcctt caatttccct
     6181 tttagaatga cttttggttt tcattacagt aggctatgtt agcctttatt ttggtggttc
     6241 tcaaatacct ggtgacttga aagagtatta tgctggtggc ctttcataaa ggttactgaa
     6301 ctttaatcag gggtgagatg aatgaatgtg aataggccta tatactattt tttttaatta
     6361 aaaaaaaaaa aaacagggca cttgatttaa gaacaaacct gtttaaaggg caggatcagg
     6421 gggaagacag ccttactagg ttggaatctg aatgagattc ttgctggaca aggctgaatt
     6481 atggatgcaa aagccaagca aacttcccag acctggaagt gtcttgtgtt cccttgggtc
     6541 tcttgagatc tccagtattt aaaagtagca gttattgcca tgaactctca aataaaaatg
     6601 ctcctgcctc ttacttgtga atataatcaa catgcagcca gtacatcagg accgcagttg
     6661 ctgaattcat ttacctagtt cccctttaca gcgactatgg acaagaacct ttcagttggt
     6721 tttgtcattc ttggccagat ttaaccaaga aatttctttc actatcagcc tcattttctc
     6781 aggcatgctt acagggacaa agttgttttg agttgagttc tcagcaaata agcattaata
     6841 tcaaactgtg ctaaacttgt ctcacttggt ataagaactt cagcataaag agattagttt
     6901 atcctttgac accaagtctt ttttttttct ttgagacaga gtcttgccct gtcacccagg
     6961 ctggaatgca ttggtgtgat ctcagctcag tcactgcaac ctccgcctcc ccggttcaag
     7021 caattctcct gcctcaccct gcttagtagt tgggattaca ggcatgtgct accacactgg
     7081 gctaattttt gtatatttat tagagacagg gttttgctat gttggccagg ctggtctcaa
     7141 actcctgacc tcaggtgatc cacctgcctc tgcctcccaa agtgctgaga ttacaggtgt
     7201 aagccactgc gcctggcccc cctttttttt ttctttaaaa aaaaaaaaaa gcttggggga
     7261 ttaagtaccc taagatagtg gtctctccca tcagttcaat aatgctgtac agaacctctg
     7321 gataaaaaag ctgttattta caccataatt gtgatgatgg atttgactcc tcaaaaccat
     7381 ctctcccctt tttgcccttt ccaaaaatca aaggcttttg tctccatgag ttttacctag
     7441 tagggattgt agttgtcact ggtctagagt tccaatacat tttatatcag gaacctcagt
     7501 gagctaccca gaattggaac ttaacatggc ccagcaacta ggagaagaag gcaaaccttg
     7561 agaaagctga gccctcagga tagcacagtc tcacccttgt ttaaaatcaa gtcaggctag
     7621 cctttcagtc actctggttt tgtaatgatt tgccttttag gcctcaggcc atttgatttc
     7681 tgcaatagtt ttctgttctt ctcctacagg aatacatccc tgtcctttcg gttgtaacta
     7741 ttactaaaac tagggctatg caaatgacct ggttaccatg taatgaacct tgtgtactta
     7801 ttttgagaga acaatatgta taggatatgt tgaggggcag aaagaaagac atcaaaaact
     7861 ggaactattt taggtggcaa attgtaacgc aaaaaacaaa agtatacctt attttgtata
     7921 cgatgtacac ttgggacaga gttttctaat atgttgccaa tgtttttgta gtgtcaccac
     7981 aggtcttttc tgaagtgttt ttcccatttg ttatagagta ttaatgactt agcgtaatta
     8041 agccctcaag tatgtgtgag agagcgcgtg tgagaaaata caaagccata gatattgatt
     8101 tacttcactg acctgtgtaa ctttatgtct gggtttcgcc atccaagata gattgtttta
     8161 tagagagtgt caccaaagac tttttccttc caatttatag aagaaaaaaa aaagaaatta
     8221 ttaataaatg acatgacttt tca
//
LOCUS       NM_000128               3053 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens coagulation factor XI (F11), transcript variant 1,
            mRNA.
ACCESSION   NM_000128
VERSION     NM_000128.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3053)
  AUTHORS   Paszek E, Polak M, Bryk-Wiazania AH, Konieczynska M and Undas A.
  TITLE     Elevated plasma factor XI predicts cardiovascular events in patients
            with type 2 diabetes: a long-term observational study
  JOURNAL   Cardiovasc Diabetol 22 (1), 182 (2023)
   PUBMED   37460982
  REMARK    GeneRIF: Elevated plasma factor XI predicts cardiovascular events in
            patients with type 2 diabetes: a long-term observational study.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3053)
  AUTHORS   de Mazancourt P, Quelin F, Flaujac C, de Raucourt E, Guillet B,
            Bauduer F, Ernest V, Beurrier P, Avril A, d'Oiron R, Biron-Andreani
            C, Meunier S and Dargaud Y.
  TITLE     A focus on dominant negative variants in a series of 170
            heterozygous FXI-deficient patients
  JOURNAL   Haemophilia 29 (4), 1113-1120 (2023)
   PUBMED   37252892
  REMARK    GeneRIF: A focus on dominant negative variants in a series of 170
            heterozygous FXI-deficient patients.
REFERENCE   3  (bases 1 to 3053)
  AUTHORS   Umerah,C.O. and Momodu,I.I.
  TITLE     Anticoagulation
  JOURNAL   (in) ? (Ed.); STATPEARLS; (2023)
   PUBMED   32809486
REFERENCE   4  (bases 1 to 3053)
  AUTHORS   Rai V, Balters MW and Agrawal DK.
  TITLE     Factors IX, XI, and XII: potential therapeutic targets for
            anticoagulant therapy in atherothrombosis
  JOURNAL   Rev Cardiovasc Med 20 (4), 245-253 (2019)
   PUBMED   31912715
  REMARK    Review article
REFERENCE   5  (bases 1 to 3053)
  AUTHORS   Szekely O, Borgi M and Lip GYH.
  TITLE     Factor XI inhibition fulfilling the optimal expectations for ideal
            anticoagulation
  JOURNAL   Expert Opin Emerg Drugs 24 (1), 55-61 (2019)
   PUBMED   30845846
  REMARK    Review article
REFERENCE   6  (bases 1 to 3053)
  AUTHORS   Al-Horani RA and Afosah DK.
  TITLE     Recent advances in the discovery and development of factor XI/XIa
            inhibitors
  JOURNAL   Med Res Rev 38 (6), 1974-2023 (2018)
   PUBMED   29727017
  REMARK    Review article
REFERENCE   7  (bases 1 to 3053)
  AUTHORS   Pathak M, Kaira BG, Slater A and Emsley J.
  TITLE     Cell Receptor and Cofactor Interactions of the Contact Activation
            System and Factor XI
  JOURNAL   Front Med (Lausanne) 5, 66 (2018)
   PUBMED   29619369
  REMARK    Review article Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3053)
  AUTHORS   Dossenbach-Glaninger A and Hopmeier P.
  TITLE     Coagulation factor XI: a database of mutations and polymorphisms
            associated with factor XI deficiency
  JOURNAL   Blood Coagul Fibrinolysis 16 (4), 231-238 (2005)
   PUBMED   15870541
  REMARK    GeneRIF: To provide a complete database of mutations and
            polymorphisms associated with factor XI deficiency, all available
            data on hereditary factor XI deficiency from main biological and
            medical databases were collected Review article
REFERENCE   9  (bases 1 to 3053)
  AUTHORS   Meijers JC, Davie EW and Chung DW.
  TITLE     Expression of human blood coagulation factor XI: characterization of
            the defect in factor XI type III deficiency
  JOURNAL   Blood 79 (6), 1435-1440 (1992)
   PUBMED   1547342
REFERENCE   10  (bases 1 to 3053)
  AUTHORS   Mandle,R.J. Jr. and Kaplan,A.P.
  TITLE     Hageman-factor-dependent fibrinolysis: generation of fibrinolytic
            activity by the interaction of human activated factor XI and
            plasminogen
  JOURNAL   Blood 54 (4), 850-862 (1979)
   PUBMED   89876
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC122863.1, M13142.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2142363 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000403665.7/ ENSP00000384957.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA630863.1, M13142.1 and
            AC110771.3.
            On Aug 31, 2019 this sequence version replaced NM_000128.3.
            Summary: This gene encodes coagulation factor XI of the blood
            coagulation cascade. This protein is present in plasma as a
            zymogen, which is a unique plasma coagulation enzyme because it
            exists as a homodimer consisting of two identical polypeptide
            chains linked by disulfide bonds. During activation of the plasma
            factor XI, an internal peptide bond is cleaved by factor XIIa (or
            XII) in each of the two chains, resulting in activated factor XIa,
            a serine protease composed of two heavy and two light chains held
            together by disulfide bonds. This activated plasma factor XI
            triggers the middle phase of the intrisic pathway of blood
            coagulation by activating factor IX. Defects in this factor lead to
            Rosenthal syndrome, a blood coagulation abnormality. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3053
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.2"
     gene            1..3053
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /note="coagulation factor XI"
                     /db_xref="GeneID:2160"
                     /db_xref="HGNC:HGNC:3529"
                     /db_xref="MIM:264900"
     misc_feature    70..72
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /note="upstream in-frame stop codon"
     CDS             109..1986
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /EC_number="3.4.21.27"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; plasma thromboplastin antecedent; coagualtion
                     factor XI"
                     /codon_start=1
                     /product="coagulation factor XI isoform 1 preproprotein"
                     /protein_id="NP_000119.1"
                     /db_xref="CCDS:CCDS3847.1"
                     /db_xref="GeneID:2160"
                     /db_xref="HGNC:HGNC:3529"
                     /db_xref="MIM:264900"
                     /translation="MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKY
                     CQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKDSVTETLPRVNRTAAISGYSFKQCS
                     HQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLEHRN
                     ICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPD
                     AFVCGRICTHHPGCLFFTFFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQ
                     SCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQASCN
                     EGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEW
                     PWQVTLHTTSPTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDT
                     SFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDSQRPICLPSKGDRNVIYTDCWVT
                     GWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSG
                     GPLSCKHNEVWHLVGITSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV"
     sig_peptide     109..162
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     163..1269
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /product="Coagulation factor XIa heavy chain.
                     /id=PRO_0000027825"
                     /note="propagated from UniProtKB/Swiss-Prot (P03951.1)"
     misc_feature    376..378
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:25092234; propagated from
                     UniProtKB/Swiss-Prot (P03951.1); glycosylation site"
     misc_feature    484..486
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:25092234; propagated from
                     UniProtKB/Swiss-Prot (P03951.1); glycosylation site"
     misc_feature    595..597
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /note="N-linked (GlcNAc...) (complex) asparagine, atypical.
                     /evidence=ECO:0000269|PubMed:25092234; propagated from
                     UniProtKB/Swiss-Prot (P03951.1); glycosylation site"
     mat_peptide     1270..1983
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /product="Coagulation factor XIa light chain.
                     /id=PRO_0000027826"
                     /note="propagated from UniProtKB/Swiss-Prot (P03951.1)"
     misc_feature    1456..1458
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:25092234;
                     propagated from UniProtKB/Swiss-Prot (P03951.1);
                     glycosylation site"
     misc_feature    1579..1581
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:1998667,
                     ECO:0000269|PubMed:25092234; propagated from
                     UniProtKB/Swiss-Prot (P03951.1); glycosylation site"
     regulatory      2126..2131
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /note="hexamer: AACAAA"
     polyA_site      2156
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /note="major polyA site"
     polyA_site      2191
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
     polyA_site      2680
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
ORIGIN
        1 gaccatttcc tacacaagct cattcagagg aggatgaaga ccattttgga ggaagaaaag
       61 cacccttatt aagaattgca gcaagtaagc caacaaggtc ttttcaggat gattttctta
      121 tatcaagtgg tacatttcat tttatttact tcagtttctg gtgaatgtgt gactcagttg
      181 ttgaaggaca cctgctttga aggaggggac attactacgg tcttcacacc aagcgccaag
      241 tactgccagg tagtctgcac ttaccaccca agatgtttac tcttcacttt cacggcggaa
      301 tcaccatctg aggatcccac ccgatggttt acttgtgtcc tgaaagacag tgttacagaa
      361 acactgccaa gagtgaatag gacagcagcg atttctgggt attctttcaa gcaatgctca
      421 caccaaataa gcgcttgcaa caaagacatt tatgtggacc tagacatgaa gggcataaac
      481 tataacagct cagttgccaa gagtgctcaa gaatgccaag aaagatgcac ggatgacgtc
      541 cactgccact ttttcacgta cgccacaagg cagtttccca gcctggagca tcgtaacatt
      601 tgtctactga agcacaccca aacagggaca ccaaccagaa taacgaagct cgataaagtg
      661 gtgtctggat tttcactgaa atcctgtgca ctttctaatc tggcttgtat tagggacatt
      721 ttccctaata cggtgtttgc agacagcaac atcgacagtg tcatggctcc cgatgctttt
      781 gtctgtggcc gaatctgcac tcatcatccc ggttgcttgt tttttacctt cttttcccag
      841 gaatggccca aagaatctca aagaaatctt tgtctcctta aaacatctga gagtggattg
      901 cccagtacac gcattaaaaa gagcaaagct ctttctggtt tcagtctaca aagctgcagg
      961 cacagcatcc cagtgttctg ccattcttca ttttaccatg acactgattt cttgggagaa
     1021 gaactggata ttgttgctgc aaaaagtcac gaggcctgcc agaaactgtg caccaatgcc
     1081 gtccgctgcc agttttttac ctatacccca gcccaagcat cctgcaacga agggaagggc
     1141 aagtgttact taaagctttc ttcaaacgga tctccaacta aaatacttca cgggagagga
     1201 ggcatctctg gatacacatt aaggttgtgt aaaatggata atgagtgtac caccaaaatc
     1261 aagcccagga tcgttggagg aactgcgtct gttcgtggtg agtggccgtg gcaggtgacc
     1321 ctgcacacaa cctcacccac tcagagacac ctgtgtggag gctccatcat tggaaaccag
     1381 tggatattaa cagccgctca ctgtttctat ggggtagagt cacctaagat tttgcgtgtc
     1441 tacagtggca ttttaaatca atctgaaata aaagaggaca catctttctt tggggttcaa
     1501 gaaataataa tccatgatca gtataaaatg gcagaaagcg ggtatgatat tgccttgttg
     1561 aaactggaaa ccacagtgaa ttacacagat tctcaacgac ccatatgcct gccttccaaa
     1621 ggagatagaa atgtaatata cactgattgc tgggtgactg gatgggggta cagaaaacta
     1681 agagacaaaa tacaaaatac tctccagaaa gccaagatac ccttagtgac caacgaagag
     1741 tgccagaaga gatacagagg acataaaata acccataaga tgatctgtgc cggctacagg
     1801 gaaggaggga aggacgcttg caagggagat tcgggaggcc ctctgtcctg caaacacaat
     1861 gaggtctggc atctggtagg catcacgagc tggggcgaag gctgtgctca aagggagcgg
     1921 ccaggtgttt acaccaacgt ggtcgagtac gtggactgga ttctggagaa aactcaagca
     1981 gtgtgaatgg gttcccaggg gccattggag tccctgaagg acccaggatt tgctgggaga
     2041 gggtgttgag ttcactgtgc cagcatgctt cctccacagt aacacgctga aggggcttgg
     2101 tgtttgtaag aaaatgctag aagaaaacaa actgtcacaa gttgttatgt ccaaaactcc
     2161 cgttctatga tcgttgtagt ttgtttgagc attcagtctc tttgtttttg atcacgcttc
     2221 tatggagtcc aagaattacc ataaggcaat atttctgaag attactatat aggcagatat
     2281 agcagaaaat aaccaagtag tggcagtggg gatcaggcag aagaactggt aaaagaagcc
     2341 accataaata gatttgttcg atgaaagatg aaaactggaa gaaaggagaa caaagacagt
     2401 cttcaccatt ttgcaggaat ctacactctg cctatgtgaa cacatttctt ttgtaaagaa
     2461 agaaattgat tgcatttaat ggcagatttt cagaatagtc aggaattctt gtcatttcca
     2521 ttttaaaata tatattaaaa aaaatcagtt cgagtagaca cgagctaaga gtgaatgtga
     2581 agataacaga atttctgtgt ggaagaggat tacaagcagc aatttacctg gaagtgatac
     2641 cttaggggca atcttgaaga tacactttcc tgaaaaatga tttgtgatgg attgtatatt
     2701 tatttaaaat atcttgggag gggaggctga tggagatagg gagcatgctc aaacctccct
     2761 aagacaagct gctgctgtga ctatgggctc ccaaagagct agatcgtata tttatttgac
     2821 aaaaatcacc atagactgca tccatactac agagaaaaaa caattagggc gcaaatggat
     2881 agttacagta aagtcttcag caagcagctg cctgtattct aagcactggg attttctgtt
     2941 tcgtgcaaat atttatctca ttattgttgt gatctagttc aataacctag aatttgaatt
     3001 gtcaccacat agctttcaat ctgtgccaac aactatacaa ttcatcaagt gtg
//
LOCUS       NM_000129               3828 bp    mRNA    linear   PRI 20-SEP-2023
DEFINITION  Homo sapiens coagulation factor XIII A chain (F13A1), mRNA.
ACCESSION   NM_000129
VERSION     NM_000129.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3828)
  AUTHORS   Bazzan E, Casara A, Radu CM, Tine M, Biondini D, Faccioli E, Pezzuto
            F, Bernardinello N, Conti M, Balestro E, Calabrese F, Simioni P, Rea
            F, Turato G, Spagnolo P, Cosio MG and Saetta M.
  TITLE     Macrophages-derived Factor XIII links coagulation to inflammation in
            COPD
  JOURNAL   Front Immunol 14, 1131292 (2023)
   PUBMED   37180121
  REMARK    GeneRIF: Macrophages-derived Factor XIII links coagulation to
            inflammation in COPD. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3828)
  AUTHORS   Cheng YL, Ding ZX, Cao LJ, Han JJ, Su J, Gao GY, Yu ZQ, Bai X, Wang
            ZY and Ruan CG.
  TITLE     [Gene diagnosis of a family with coagulation factor deficiency
            caused by large deletion of F13A1 gene]
  JOURNAL   Zhonghua Xue Ye Xue Za Zhi 44 (1), 62-65 (2023)
   PUBMED   36987725
  REMARK    GeneRIF: [Gene diagnosis of a family with coagulation factor
            deficiency caused by large deletion of F13A1 gene].
REFERENCE   3  (bases 1 to 3828)
  AUTHORS   Ntanyane Phasha MA, Soma P, Rooy MV and Phulukdaree A.
  TITLE     MicroRNA 155, Factor XIII and Type 2 Diabetes Mellitus and Coronary
            Heart Disease
  JOURNAL   Curr Diabetes Rev 19 (6), e190822207740 (2023)
   PUBMED   35993471
  REMARK    GeneRIF: MicroRNA 155, Factor XIII and Type 2 Diabetes Mellitus and
            Coronary Heart Disease. Review article
REFERENCE   4  (bases 1 to 3828)
  AUTHORS   Klajmon A, Chmiel J, Zabczyk M, Pociask E, Wypasek E, Malinowski KP,
            Undas A and Natorska J.
  TITLE     Fibrinogen beta chain and FXIII polymorphisms affect fibrin clot
            properties in acute pulmonary embolism
  JOURNAL   Eur J Clin Invest 52 (4), e13718 (2022)
   PUBMED   34783023
  REMARK    GeneRIF: Fibrinogen beta chain and FXIII polymorphisms affect fibrin
            clot properties in acute pulmonary embolism.
REFERENCE   5  (bases 1 to 3828)
  AUTHORS   Cernera G, Comegna M, Gelzo M, Savoia M, Bruzzese D, Mormile M,
            Zarrilli F, Amato F, Micco PD and Castaldo G.
  TITLE     Molecular Analysis of Prothrombotic Gene Variants in Patients with
            Acute Ischemic Stroke and with Transient Ischemic Attack
  JOURNAL   Medicina (Kaunas) 57 (7), 723 (2021)
   PUBMED   34357004
  REMARK    GeneRIF: Molecular Analysis of Prothrombotic Gene Variants in
            Patients with Acute Ischemic Stroke and with Transient Ischemic
            Attack. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3828)
  AUTHORS   Board P, Coggan M and Miloszewski K.
  TITLE     Identification of a point mutation in factor XIII A subunit
            deficiency
  JOURNAL   Blood 80 (4), 937-941 (1992)
   PUBMED   1353995
REFERENCE   7  (bases 1 to 3828)
  AUTHORS   Kamura T, Okamura T, Murakawa M, Tsuda H, Teshima T, Shibuya T,
            Harada M and Niho Y.
  TITLE     Deficiency of coagulation factor XIII A subunit caused by the
            dinucleotide deletion at the 5' end of exon III
  JOURNAL   J Clin Invest 90 (2), 315-319 (1992)
   PUBMED   1644910
REFERENCE   8  (bases 1 to 3828)
  AUTHORS   Harsfalvi J, Fesus L, Tarcsa E, Laczko J and Loewy AG.
  TITLE     The presence of a covalently cross-linked matrix in human platelets
  JOURNAL   Biochim Biophys Acta 1073 (2), 268-274 (1991)
   PUBMED   2009280
REFERENCE   9  (bases 1 to 3828)
  AUTHORS   Hilgenfeld R, Liesum A, Storm R, Metzner HJ and Karges HE.
  TITLE     Crystallization of blood coagulation factor XIII by an automated
            procedure
  JOURNAL   FEBS Lett 265 (1-2), 110-112 (1990)
   PUBMED   2365049
REFERENCE   10  (bases 1 to 3828)
  AUTHORS   Bishop PD, Teller DC, Smith RA, Lasser GW, Gilbert T and Seale RL.
  TITLE     Expression, purification, and characterization of human factor XIII
            in Saccharomyces cerevisiae
  JOURNAL   Biochemistry 29 (7), 1861-1869 (1990)
   PUBMED   2184890
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC027963.1, AK312735.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000264870.8/ ENSP00000264870.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP251770.1, AB208852.1 and
            AL157775.15.
            On Aug 31, 2019 this sequence version replaced NM_000129.3.
            Summary: This gene encodes the coagulation factor XIII A subunit.
            Coagulation factor XIII is the last zymogen to become activated in
            the blood coagulation cascade. Plasma factor XIII is a
            heterotetramer composed of 2 A subunits and 2 B subunits. The A
            subunits have catalytic function, and the B subunits do not have
            enzymatic activity and may serve as plasma carrier molecules.
            Platelet factor XIII is comprised only of 2 A subunits, which are
            identical to those of plasma origin. Upon cleavage of the
            activation peptide by thrombin and in the presence of calcium ion,
            the plasma factor XIII dissociates its B subunits and yields the
            same active enzyme, factor XIIIa, as platelet factor XIII. This
            enzyme acts as a transglutaminase to catalyze the formation of
            gamma-glutamyl-epsilon-lysine crosslinking between fibrin
            molecules, thus stabilizing the fibrin clot. It also crosslinks
            alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of
            fibrin. Factor XIII deficiency is classified into two categories:
            type I deficiency, characterized by the lack of both the A and B
            subunits; and type II deficiency, characterized by the lack of the
            A subunit alone. These defects can result in a lifelong bleeding
            tendency, defective wound healing, and habitual abortion. [provided
            by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3828
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.1"
     gene            1..3828
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /note="coagulation factor XIII A chain"
                     /db_xref="GeneID:2162"
                     /db_xref="HGNC:HGNC:3531"
                     /db_xref="MIM:134570"
     CDS             95..2293
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /EC_number="2.3.2.13"
                     /note="TGase; fibrin stabilizing factor, A subunit; FSF, A
                     subunit; fibrinoligase; transglutaminase. plasma;
                     protein-glutamine gamma-glutamyltransferase A chain;
                     coagulation factor XIII, A polypeptide; factor XIIIa;
                     bA525O21.1 (coagulation factor XIII, A1 polypeptide);
                     coagulation factor XIIIa; transglutaminase A chain"
                     /codon_start=1
                     /product="coagulation factor XIII A chain"
                     /protein_id="NP_000120.2"
                     /db_xref="CCDS:CCDS4496.1"
                     /db_xref="GeneID:2162"
                     /db_xref="HGNC:HGNC:3531"
                     /db_xref="MIM:134570"
                     /translation="MSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQEF
                     LNVTSVHLFKERWDTNKVDHHTDKYENNKLIVRRGQSFYVQIDFSRPYDPRRDLFRVEY
                     VIGRYPQENKGTYIPVPIVSELQSGKWGAKIVMREDRSVRLSIQSSPKCIVGKFRMYVA
                     VWTPYGVLRTSRNPETDTYILFNPWCEDDAVYLDNEKEREEYVLNDIGVIFYGEVNDIK
                     TRSWSYGQFEDGILDTCLYVMDRAQMDLSGRGNPIKVSRVGSAMVNAKDDEGVLVGSWD
                     NIYAYGVPPSAWTGSVDILLEYRSSENPVRYGQCWVFAGVFNTFLRCLGIPARIVTNYF
                     SAHDNDANLQMDIFLEEDGNVNSKLTKDSVWNYHCWNEAWMTRPDLPVGFGGWQAVDST
                     PQENSDGMYRCGPASVQAIKHGHVCFQFDAPFVFAEVNSDLIYITAKKDGTHVVENVDA
                     THIGKLIVTKQIGGDGMMDITDTYKFQEGQEEERLALETALMYGAKKPLNTEGVMKSRS
                     NVDMDFEVENAVLGKDFKLSITFRNNSHNRYTITAYLSANITFYTGVPKAEFKKETFDV
                     TLEPLSFKKEAVLIQAGEYMGQLLEQASLHFFVTARINETRDVLAKQKSTVLTIPEIII
                     KVRGTQVVGSDMTVTVEFTNPLKETLRNVWVHLDGPGVTRPMKKMFREIRPNSTVQWEE
                     VCRPWVSGHRKLIASMSSDSLRHVYGELDVQIQRRPSM"
     misc_feature    95..175
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /note="propagated from UniProtKB/Swiss-Prot (P00488.5);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    98..100
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /note="N-acetylserine.
                     /evidence=ECO:0000305|PubMed:2877456; propagated from
                     UniProtKB/Swiss-Prot (P00488.5); acetylation site"
     misc_feature    206..211
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /note="Cleavage, by thrombin, to produce active factor
                     XIII-A; propagated from UniProtKB/Swiss-Prot (P00488.5);
                     cleavage site"
     mat_peptide     209..2290
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /product="Coagulation factor XIII A chain.
                     /id=PRO_0000033647"
                     /note="propagated from UniProtKB/Swiss-Prot (P00488.5)"
     misc_feature    1934..1936
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P00488.5); glycosylation site"
     regulatory      3808..3813
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /note="hexamer: AATAAA"
     polyA_site      3828
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /note="major polyA site"
ORIGIN
        1 gagtccgttt gaggaagtcc ccgaggcgca cagagcaagc ccacgcgagg gcacctctgg
       61 aggggagcgc ctgcaggacc ttgtaaagtc aaaaatgtca gaaacttcca ggaccgcctt
      121 tggaggcaga agagcagttc cacccaataa ctctaatgca gcggaagatg acctgcccac
      181 agtggagctt cagggcgtgg tgccccgggg cgtcaacctg caagagtttc ttaatgtcac
      241 gagcgttcac ctgttcaagg agagatggga cactaacaag gtggaccacc acactgacaa
      301 gtatgaaaac aacaagctga ttgtccgcag agggcagtct ttctatgtgc agattgactt
      361 cagtcgtcca tatgacccca gaagggatct cttcagggtg gaatacgtca ttggtcgcta
      421 cccacaggag aacaagggaa cctacatccc agtgcctata gtctcagagt tacaaagtgg
      481 aaagtggggg gccaagattg tcatgagaga ggacaggtct gtgcggctgt ccatccagtc
      541 ttcccccaaa tgtattgtgg ggaaattccg catgtatgtt gctgtctgga ctccctatgg
      601 cgtacttcga accagtcgaa acccagaaac agacacgtac attctcttca atccttggtg
      661 tgaagatgat gctgtgtatc tggacaatga gaaagaaaga gaagagtatg tcctgaatga
      721 catcggggta attttttatg gagaggtcaa tgacatcaag accagaagct ggagctatgg
      781 tcagtttgaa gatggcatcc tggacacttg cctgtatgtg atggacagag cacaaatgga
      841 cctctctgga agagggaatc ccatcaaagt cagccgtgtg gggtctgcaa tggtgaatgc
      901 caaagatgac gaaggtgtcc tcgttggatc ctgggacaat atctatgcct atggcgtccc
      961 cccatcggcc tggactggaa gcgttgacat tctattggaa taccggagct ctgagaatcc
     1021 agtccggtat ggccaatgct gggtttttgc tggtgtcttt aacacatttt tacgatgcct
     1081 tggaatacca gcaagaattg ttaccaatta tttctctgcc catgataatg atgccaattt
     1141 gcaaatggac atcttcctgg aagaagatgg gaacgtgaat tccaaactca ccaaggattc
     1201 agtgtggaac taccactgct ggaatgaagc atggatgaca aggcctgacc ttcctgttgg
     1261 atttggaggc tggcaagctg tggacagcac cccccaggaa aatagcgatg gcatgtatcg
     1321 gtgtggcccc gcctcggttc aagccatcaa gcacggccat gtctgcttcc aatttgatgc
     1381 accttttgtt tttgcagagg tcaacagcga cctcatttac attacagcta agaaagatgg
     1441 cactcatgtg gtggaaaatg tggatgccac ccacattggg aaattaattg tgaccaaaca
     1501 aattggagga gatggcatga tggatattac tgatacttac aaattccaag aaggtcaaga
     1561 agaagagaga ttggccctag aaactgccct gatgtacgga gctaaaaagc ccctcaacac
     1621 agaaggtgtc atgaaatcaa ggtccaacgt tgacatggac tttgaagtgg aaaatgctgt
     1681 gctgggaaaa gacttcaagc tctccatcac cttccggaac aacagccaca accgttacac
     1741 catcacagct tatctctcag ccaacatcac cttctacacc ggggtcccga aggcagaatt
     1801 caagaaggag acgttcgacg tgacgctgga gcccttgtcc ttcaagaaag aggcggtgct
     1861 gatccaagcc ggcgagtaca tgggtcagct gctggaacaa gcgtccctgc acttctttgt
     1921 cacagctcgc atcaatgaga ccagggatgt tctggccaag caaaagtcca ccgtgctaac
     1981 catccctgag atcatcatca aggtccgtgg cactcaggta gttggttctg acatgactgt
     2041 gacagttgag tttaccaatc ctttaaaaga aaccctgcga aatgtctggg tacacctgga
     2101 tggtcctgga gtaacaagac caatgaagaa gatgttccgt gaaatccggc ccaactccac
     2161 cgtgcagtgg gaagaagtgt gccggccctg ggtctctggg catcggaagc tgatagccag
     2221 catgagcagt gactccctga gacatgtgta tggcgagctg gacgtgcaga ttcaaagacg
     2281 accttccatg tgaatgcaca ggaagctgag atgaaccctg gcatttggcc tcttgtagtc
     2341 ttggctaagg aaattctaac gcaaaaatag ctcttgcttt gacttaggtg tgaagaccca
     2401 gacaggactg cagagggctc cagagtggag atcccacata tttcaaaaac atgcttttcc
     2461 aaacccaggc tattcggcaa ggaagttagt ttttaatctc tccaccttcc aaagagtgct
     2521 aagcattagc tttaattaag ctctcatagc tcataagagt aacagtcatc atttatcatc
     2581 acaaatggct acatctccaa atatcagtgg gctctcttac cagggagatt tgctcaatac
     2641 ctggcctcat ttaaaacaag acttcagatt ccccactcag ccttttggga ataatagcac
     2701 atgatttggg ctctagaatt ccagtcccct ttctcggggt caggttctac cctccatgtg
     2761 agaatatttt tcccaggact agagcacaac ataattttta tttttggcaa agccagaaaa
     2821 agatctttca ttttgcacct gcagccaagc aaatgcctgc caaattttag atttaccttg
     2881 ttagaagagg tggccccata ttaacaaatt gcatttgtgg gaaacttaac cacctacaag
     2941 gagataagaa agcaggtgca acactcaagt ctattgaata atgtagtttt gtgatgcatt
     3001 ttatagaatg tgtcacactg tggcctgatc agcaggagcc aatatccctt actttaaccc
     3061 tttctgggat gcaatactag gaagtaaagt gaagaattta tctctttagt tagtgattat
     3121 atttcaccca tctctcagga atcatctcct ttgcagaatg atgcaggttc aggtcccctt
     3181 tcagagatat aataagccca acaagttgaa gaagctggcg gatctagtga ccagatatat
     3241 agaaggactg cagccactga ttctctcttg tccttcacat cacccatgtt gagacctcag
     3301 cttggcactc aggtgctgaa gggtaatatg gactcagcct tgcaaatagc cagtgctagt
     3361 tctgacccaa ccacagagga tgctgacatc atttgtatta tgttccaagg ctactacaga
     3421 gaaggctgcc tgctatgtat ttgcaaggct gatttatggt cagaatttcc ctctgatatg
     3481 tctagggtgt gatttaggtc agtagactgt gattcttagc aaaaaatgaa cagtgataag
     3541 tatactgggg gcaaaatcag aatggaatgc tctggtctat ataaccacat ttctaagcct
     3601 ttgagactgt tcctgagcct tcagcactaa cctatgaggg tgagctggtc ccctctatat
     3661 atacatcata cttaacttta ctaagtaatc tcacagcatt tgccaagtct cccaatatcc
     3721 aattttaaaa tgaaatgcat tttgctagac agttaaactg gcttaactta gtatattatt
     3781 attaattaca atgtaataga agcttaaaat aaagttaaac tgattata
//
LOCUS       NM_000130               9132 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens coagulation factor V (F5), mRNA.
ACCESSION   NM_000130
VERSION     NM_000130.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9132)
  AUTHORS   Au E, Shao I, Elias Z, Koivu A, Zabida A, Shih AW, Cserti-Gazdewich
            C, van Klei WA and Bartoszko J.
  TITLE     Complications of Factor V Leiden in Adults Undergoing Noncardiac
            Surgical Procedures: A Systematic Review
  JOURNAL   Anesth Analg 137 (3), 601-617 (2023)
   PUBMED   37053508
  REMARK    GeneRIF: Complications of Factor V Leiden in Adults Undergoing
            Noncardiac Surgical Procedures: A Systematic Review.
REFERENCE   2  (bases 1 to 9132)
  AUTHORS   Shimonishi N, Ogiwara K, Yoshida J, Horie K, Nakajima Y, Furukawa S,
            Takeyama M and Nogami K.
  TITLE     Impaired factor V-related anticoagulant mechanisms and deep vein
            thrombosis associated with A2086D and W1920R mutations
  JOURNAL   Blood Adv 7 (12), 2831-2842 (2023)
   PUBMED   36780344
  REMARK    GeneRIF: Impaired factor V-related anticoagulant mechanisms and deep
            vein thrombosis associated with A2086D and W1920R mutations.
REFERENCE   3  (bases 1 to 9132)
  AUTHORS   Cheng XL, Yang T, Yang L, Xin YJ, He M, Zhu L and Liu JY.
  TITLE     [The analysis of a pedigree with hereditary coagulation factor
            deficiency caused by compound heterozygous variation of F5 gene]
  JOURNAL   Zhonghua Yi Xue Za Zhi 103 (17), 1323-1327 (2023)
   PUBMED   37150682
  REMARK    GeneRIF: [The analysis of a pedigree with hereditary coagulation
            factor deficiency caused by compound heterozygous variation of F5
            gene].
REFERENCE   4  (bases 1 to 9132)
  AUTHORS   Mootoosamy C, Kondyli M, Serfaty SA, Tremblay DE, Gagne V, Ribere M,
            Laverdiere C, Leclerc JM, Sinnett D, Tran TH and Krajinovic M.
  TITLE     IL16 and factor V gene variations are associated with
            asparaginase-related thrombosis in childhood acute lymphoblastic
            leukemia patients
  JOURNAL   Pharmacogenomics 24 (4), 199-206 (2023)
   PUBMED   36946317
  REMARK    GeneRIF: IL16 and factor V gene variations are associated with
            asparaginase-related thrombosis in childhood acute lymphoblastic
            leukemia patients.
REFERENCE   5  (bases 1 to 9132)
  AUTHORS   Naguib M, Abdel-Razek W, Estaphan S, Abdelsameea E, Abdel-Samiee M
            and Shafik NF.
  TITLE     Impact of prothrombin and factor V Leiden mutations on the
            progression of fibrosis in patients with chronic hepatitis C
  JOURNAL   PLoS One 17 (11), e0276592 (2022)
   PUBMED   36355755
  REMARK    GeneRIF: Impact of prothrombin and factor V Leiden mutations on the
            progression of fibrosis in patients with chronic hepatitis C.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 9132)
  AUTHORS   Kujovich,J.L.
  TITLE     Factor V Leiden Thrombophilia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301542
REFERENCE   7  (bases 1 to 9132)
  AUTHORS   Cripe LD, Moore KD and Kane WH.
  TITLE     Structure of the gene for human coagulation factor V
  JOURNAL   Biochemistry 31 (15), 3777-3785 (1992)
   PUBMED   1567832
REFERENCE   8  (bases 1 to 9132)
  AUTHORS   Guglielmone HA and Vides MA.
  TITLE     A novel functional assay of protein C in human plasma and its
            comparison with amidolytic and anticoagulant assays
  JOURNAL   Thromb Haemost 67 (1), 46-49 (1992)
   PUBMED   1615482
REFERENCE   9  (bases 1 to 9132)
  AUTHORS   Hortin GL.
  TITLE     Sulfation of tyrosine residues in coagulation factor V
  JOURNAL   Blood 76 (5), 946-952 (1990)
   PUBMED   2168225
REFERENCE   10  (bases 1 to 9132)
  AUTHORS   Krishnaswamy S.
  TITLE     Prothrombinase complex assembly. Contributions of protein-protein
            and protein-membrane interactions toward complex formation
  JOURNAL   J Biol Chem 265 (7), 3708-3718 (1990)
   PUBMED   2303476
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK226079.1, M16967.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367797.9/ ENSP00000356771.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU279657.1, AK226079.1,
            M16967.1 and Z99572.1.
            On Aug 31, 2019 this sequence version replaced NM_000130.4.
            Summary: This gene encodes an essential cofactor of the blood
            coagulation cascade. This factor circulates in plasma, and is
            converted to the active form by the release of the activation
            peptide by thrombin during coagulation. This generates a heavy
            chain and a light chain which are held together by calcium ions.
            The activated protein is a cofactor that participates with
            activated coagulation factor X to activate prothrombin to thrombin.
            Defects in this gene result in either an autosomal recessive
            hemorrhagic diathesis or an autosomal dominant form of
            thrombophilia, which is known as activated protein C resistance.
            [provided by RefSeq, Oct 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..9132
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.2"
     gene            1..9132
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="coagulation factor V"
                     /db_xref="GeneID:2153"
                     /db_xref="HGNC:HGNC:3542"
                     /db_xref="MIM:612309"
     misc_feature    30..32
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="upstream in-frame stop codon"
     CDS             96..6770
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="factor V Leiden; activated protein c cofactor;
                     coagulation factor V jinjiang A2 domain; coagulation factor
                     V (proaccelerin, labile factor)"
                     /codon_start=1
                     /product="coagulation factor V preproprotein"
                     /protein_id="NP_000121.2"
                     /db_xref="CCDS:CCDS1281.1"
                     /db_xref="GeneID:2153"
                     /db_xref="HGNC:HGNC:3542"
                     /db_xref="MIM:612309"
                     /translation="MFPGCPRLWVLVVLGTSWVGWGSQGTEAAQLRQFYVAAQGISWSY
                     RPEPTNSSLNLSVTSFKKIVYREYEPYFKKEKPQSTISGLLGPTLYAEVGDIIKVHFKN
                     KADKPLSIHPQGIRYSKLSEGASYLDHTFPAEKMDDAVAPGREYTYEWSISEDSGPTHD
                     DPPCLTHIYYSHENLIEDFNSGLIGPLLICKKGTLTEGGTQKTFDKQIVLLFAVFDESK
                     SWSQSSSLMYTVNGYVNGTMPDITVCAHDHISWHLLGMSSGPELFSIHFNGQVLEQNHH
                     KVSAITLVSATSTTANMTVGPEGKWIISSLTPKHLQAGMQAYIDIKNCPKKTRNLKKIT
                     REQRRHMKRWEYFIAAEEVIWDYAPVIPANMDKKYRSQHLDNFSNQIGKHYKKVMYTQY
                     EDESFTKHTVNPNMKEDGILGPIIRAQVRDTLKIVFKNMASRPYSIYPHGVTFSPYEDE
                     VNSSFTSGRNNTMIRAVQPGETYTYKWNILEFDEPTENDAQCLTRPYYSDVDIMRDIAS
                     GLIGLLLICKSRSLDRRGIQRAADIEQQAVFAVFDENKSWYLEDNINKFCENPDEVKRD
                     DPKFYESNIMSTINGYVPESITTLGFCFDDTVQWHFCSVGTQNEILTIHFTGHSFIYGK
                     RHEDTLTLFPMRGESVTVTMDNVGTWMLTSMNSSPRSKKLRLKFRDVKCIPDDDEDSYE
                     IFEPPESTVMATRKMHDRLEPEDEESDADYDYQNRLAAALGIRSFRNSSLNQEEEEFNL
                     TALALENGTEFVSSNTDIIVGSNYSSPSNISKFTVNNLAEPQKAPSHQQATTAGSPLRH
                     LIGKNSVLNSSTAEHSSPYSEDPIEDPLQPDVTGIRLLSLGAGEFKSQEHAKHKGPKVE
                     RDQAAKHRFSWMKLLAHKVGRHLSQDTGSPSGMRPWEDLPSQDTGSPSRMRPWKDPPSD
                     LLLLKQSNSSKILVGRWHLASEKGSYEIIQDTDEDTAVNNWLISPQNASRAWGESTPLA
                     NKPGKQSGHPKFPRVRHKSLQVRQDGGKSRLKKSQFLIKTRKKKKEKHTHHAPLSPRTF
                     HPLRSEAYNTFSERRLKHSLVLHKSNETSLPTDLNQTLPSMDFGWIASLPDHNQNSSND
                     TGQASCPPGLYQTVPPEEHYQTFPIQDPDQMHSTSDPSHRSSSPELSEMLEYDRSHKSF
                     PTDISQMSPSSEHEVWQTVISPDLSQVTLSPELSQTNLSPDLSHTTLSPELIQRNLSPA
                     LGQMPISPDLSHTTLSPDLSHTTLSLDLSQTNLSPELSQTNLSPALGQMPLSPDLSHTT
                     LSLDFSQTNLSPELSHMTLSPELSQTNLSPALGQMPISPDLSHTTLSLDFSQTNLSPEL
                     SQTNLSPALGQMPLSPDPSHTTLSLDLSQTNLSPELSQTNLSPDLSEMPLFADLSQIPL
                     TPDLDQMTLSPDLGETDLSPNFGQMSLSPDLSQVTLSPDISDTTLLPDLSQISPPPDLD
                     QIFYPSESSQSLLLQEFNESFPYPDLGQMPSPSSPTLNDTFLSKEFNPLVIVGLSKDGT
                     DYIEIIPKEEVQSSEDDYAEIDYVPYDDPYKTDVRTNINSSRDPDNIAAWYLRSNNGNR
                     RNYYIAAEEISWDYSEFVQRETDIEDSDDIPEDTTYKKVVFRKYLDSTFTKRDPRGEYE
                     EHLGILGPIIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKSSEGKTYEDDSPEWFKED
                     NAVQPNSSYTYVWHATERSGPESPGSACRAWAYYSAVNPEKDIHSGLIGPLLICQKGIL
                     HKDSNMPMDMREFVLLFMTFDEKKSWYYEKKSRSSWRLTSSEMKKSHEFHAINGMIYSL
                     PGLKMYEQEWVRLHLLNIGGSQDIHVVHFHGQTLLENGNKQHQLGVWPLLPGSFKTLEM
                     KASKPGWWLLNTEVGENQRAGMQTPFLIMDRDCRMPMGLSTGIISDSQIKASEFLGYWE
                     PRLARLNNGGSYNAWSVEKLAAEFASKPWIQVDMQKEVIITGIQTQGAKHYLKSCYTTE
                     FYVAYSSNQINWQIFKGNSTRNVMYFNGNSDASTIKENQFDPPIVARYIRISPTRAYNR
                     PTLRLELQGCEVNGCSTPLGMENGKIENKQITASSFKKSWWGDYWEPFRARLNAQGRVN
                     AWQAKANNNKQWLEIDLLKIKKITAIITQGCKSLSSEMYVKSYTIHYSEQGVEWKPYRL
                     KSSMVDKIFEGNTNTKGHVKNFFNPPIISRFIRVIPKTWNQSIALRLELFGCDIY"
     sig_peptide     96..179
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     180..6767
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /product="Coagulation factor V. /id=PRO_0000002978"
                     /note="propagated from UniProtKB/Swiss-Prot (P12259.4)"
     mat_peptide     180..2306
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /product="Coagulation factor V heavy chain.
                     /id=PRO_0000002979"
                     /note="propagated from UniProtKB/Swiss-Prot (P12259.4)"
     misc_feature    246..248
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    258..260
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    810..812
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    984..986
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16263699,
                     ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P12259.4); glycosylation site"
     misc_feature    1095..1100
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="Cleavage, by activated protein C.
                     /evidence=ECO:0000269|PubMed:7989361; propagated from
                     UniProtKB/Swiss-Prot (P12259.4); cleavage site"
     misc_feature    1239..1241
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    1473..1475
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P12259.4); glycosylation site"
     misc_feature    1497..1499
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    1695..1700
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="Cleavage, by activated protein C.
                     /evidence=ECO:0000269|PubMed:7989361; propagated from
                     UniProtKB/Swiss-Prot (P12259.4); cleavage site"
     misc_feature    1755..1757
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    2013..2015
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P12259.4); phosphorylation site"
     misc_feature    2169..4814
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P12259.4);
                     Region: B"
     misc_feature    2172..2174
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P12259.4); sulfatation site"
     misc_feature    2214..2219
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="Cleavage, by activated protein C.
                     /evidence=ECO:0000269|PubMed:7989361; propagated from
                     UniProtKB/Swiss-Prot (P12259.4); cleavage site"
     misc_feature    2265..2267
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P12259.4); sulfatation site"
     misc_feature    2271..2273
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P12259.4); sulfatation site"
     misc_feature    2304..2309
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="Cleavage, by thrombin.
                     /evidence=ECO:0000269|PubMed:3110773; propagated from
                     UniProtKB/Swiss-Prot (P12259.4); cleavage site"
     misc_feature    2316..2318
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    2349..2351
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    2373..2375
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    2421..2423
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    2439..2441
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    2556..2558
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P12259.4); glycosylation site"
     misc_feature    2559..2621
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P12259.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2670..2672
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P12259.4); phosphorylation site"
     misc_feature    2775..2876
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P12259.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2778..2879
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P12259.4);
                     Region: 2 X 17 AA tandem repeats"
     misc_feature    2907..2909
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    3024..3026
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P12259.4); glycosylation site"
     misc_feature    3039..3098
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P12259.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3159..3164
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="Cleavage, by activated protein C.
                     /evidence=ECO:0000269|PubMed:7989361; propagated from
                     UniProtKB/Swiss-Prot (P12259.4); cleavage site"
     misc_feature    3180..3239
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P12259.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3231..3236
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="Cleavage, by thrombin.
                     /evidence=ECO:0000269|PubMed:3110773; propagated from
                     UniProtKB/Swiss-Prot (P12259.4); cleavage site"
     misc_feature    3315..3317
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    3342..3344
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    3384..3566
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P12259.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3402..3404
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    3411..3413
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    3648..4598
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P12259.4);
                     Region: 35 X 9 AA approximate tandem repeats of
                     [TNP]-L-S-P-D-L-S-Q-T"
     misc_feature    4116..4196
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P12259.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4530..4532
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    4590..4592
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    4659..4661
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P12259.4); sulfatation site"
     misc_feature    4707..4709
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P12259.4); sulfatation site"
     misc_feature    4722..4724
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P12259.4); sulfatation site"
     misc_feature    4770..4772
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P12259.4); glycosylation site"
     misc_feature    4812..4817
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="Cleavage, by thrombin.
                     /evidence=ECO:0000269|PubMed:3110773; propagated from
                     UniProtKB/Swiss-Prot (P12259.4); cleavage site"
     mat_peptide     4815..6767
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /product="Coagulation factor V light chain.
                     /id=PRO_0000002981"
                     /note="propagated from UniProtKB/Swiss-Prot (P12259.4)"
     misc_feature    4872..4874
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P12259.4); sulfatation site"
     misc_feature    5202..5204
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    6123..6125
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     misc_feature    6720..6722
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12259.4); glycosylation site"
     regulatory      6898..6903
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="hexamer: AATAAA"
     polyA_site      6917
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="major polyA site"
     regulatory      9108..9113
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
                     /note="hexamer: AATAAA"
     polyA_site      9132
                     /gene="F5"
                     /gene_synonym="FVL; PCCF; RPRGL1; THPH2"
ORIGIN
        1 attgcagctg ggacagcccg gagtgtggtt agcagctcgg caagcgctgc ccaggtcctg
       61 gggtggtggc agccagcggg agcaggaaag gaagcatgtt cccaggctgc ccacgcctct
      121 gggtcctggt ggtcttgggc accagctggg taggctgggg gagccaaggg acagaagcgg
      181 cacagctaag gcagttctac gtggctgctc agggcatcag ttggagctac cgacctgagc
      241 ccacaaactc aagtttgaat ctttctgtaa cttcctttaa gaaaattgtc tacagagagt
      301 atgaaccata ttttaagaaa gaaaaaccac aatctaccat ttcaggactt cttgggccta
      361 ctttatatgc tgaagtcgga gacatcataa aagttcactt taaaaataag gcagataagc
      421 ccttgagcat ccatcctcaa ggaattaggt acagtaaatt atcagaaggt gcttcttacc
      481 ttgaccacac attccctgcg gagaagatgg acgacgctgt ggctccaggc cgagaataca
      541 cctatgaatg gagtatcagt gaggacagtg gacccaccca tgatgaccct ccatgcctca
      601 cacacatcta ttactcccat gaaaatctga tcgaggattt caactcgggg ctgattgggc
      661 ccctgcttat ctgtaaaaaa gggaccctaa ctgagggtgg gacacagaag acgtttgaca
      721 agcaaatcgt gctactattt gctgtgtttg atgaaagcaa gagctggagc cagtcatcat
      781 ccctaatgta cacagtcaat ggatatgtga atgggacaat gccagatata acagtttgtg
      841 cccatgacca catcagctgg catctgctgg gaatgagctc ggggccagaa ttattctcca
      901 ttcatttcaa cggccaggtc ctggagcaga accatcataa ggtctcagcc atcacccttg
      961 tcagtgctac atccactacc gcaaatatga ctgtgggccc agagggaaag tggatcatat
     1021 cttctctcac cccaaaacat ttgcaagctg ggatgcaggc ttacattgac attaaaaact
     1081 gcccaaagaa aaccaggaat cttaagaaaa taactcgtga gcagaggcgg cacatgaaga
     1141 ggtgggaata cttcattgct gcagaggaag tcatttggga ctatgcacct gtaataccag
     1201 cgaatatgga caaaaaatac aggtctcagc atttggataa tttctcaaac caaattggaa
     1261 aacattataa gaaagttatg tacacacagt acgaagatga gtccttcacc aaacatacag
     1321 tgaatcccaa tatgaaagaa gatgggattt tgggtcctat tatcagagcc caggtcagag
     1381 acacactcaa aatcgtgttc aaaaatatgg ccagccgccc ctatagcatt taccctcatg
     1441 gagtgacctt ctcgccttat gaagatgaag tcaactcttc tttcacctca ggcaggaaca
     1501 acaccatgat cagagcagtt caaccagggg aaacctatac ttataagtgg aacatcttag
     1561 agtttgatga acccacagaa aatgatgccc agtgcttaac aagaccatac tacagtgacg
     1621 tggacatcat gagagacatc gcctctgggc taataggact acttctaatc tgtaagagca
     1681 gatccctgga caggcgagga atacagaggg cagcagacat cgaacagcag gctgtgtttg
     1741 ctgtgtttga tgagaacaaa agctggtacc ttgaggacaa catcaacaag ttttgtgaaa
     1801 atcctgatga ggtgaaacgt gatgacccca agttttatga atcaaacatc atgagcacta
     1861 tcaatggcta tgtgcctgag agcataacta ctcttggatt ctgctttgat gacactgtcc
     1921 agtggcactt ctgtagtgtg gggacccaga atgaaatttt gaccatccac ttcactgggc
     1981 actcattcat ctatggaaag aggcatgagg acaccttgac cctcttcccc atgcgtggag
     2041 aatctgtgac ggtcacaatg gataatgttg gaacttggat gttaacttcc atgaattcta
     2101 gtccaagaag caaaaagctg aggctgaaat tcagggatgt taaatgtatc ccagatgatg
     2161 atgaagactc atatgagatt tttgaacctc cagaatctac agtcatggct acacggaaaa
     2221 tgcatgatcg tttagaacct gaagatgaag agagtgatgc tgactatgat taccagaaca
     2281 gactggctgc agcattagga atcaggtcat tccgaaactc atcattgaat caggaagaag
     2341 aagagttcaa tcttactgcc ctagctctgg agaatggcac tgaattcgtt tcttcaaaca
     2401 cagatataat tgttggttca aattattctt ccccaagtaa tattagtaag ttcactgtca
     2461 ataaccttgc agaacctcag aaagcccctt ctcaccaaca agccaccaca gctggttccc
     2521 cactgagaca cctcattggc aagaactcag ttctcaattc ttccacagca gagcattcca
     2581 gcccatattc tgaagaccct atagaggatc ctctacagcc agatgtcaca gggatacgtc
     2641 tactttcact tggtgctgga gaattcaaaa gtcaagaaca tgctaagcat aagggaccca
     2701 aggtagaaag agatcaagca gcaaagcaca ggttctcctg gatgaaatta ctagcacata
     2761 aagttgggag acacctaagc caagacactg gttctccttc cggaatgagg ccctgggagg
     2821 accttcctag ccaagacact ggttctcctt ccagaatgag gccctggaag gaccctccta
     2881 gtgatctgtt actcttaaaa caaagtaact catctaagat tttggttggg agatggcatt
     2941 tggcttctga gaaaggtagc tatgaaataa tccaagatac tgatgaagac acagctgtta
     3001 acaattggct gatcagcccc cagaatgcct cacgtgcttg gggagaaagc acccctcttg
     3061 ccaacaagcc tggaaagcag agtggccacc caaagtttcc tagagttaga cataaatctc
     3121 tacaagtaag acaggatgga ggaaagagta gactgaagaa aagccagttt ctcattaaga
     3181 cacgaaaaaa gaaaaaagag aagcacacac accatgctcc tttatctccg aggacctttc
     3241 accctctaag aagtgaagcc tacaacacat tttcagaaag aagacttaag cattcgttgg
     3301 tgcttcataa atccaatgaa acatctcttc ccacagacct caatcagaca ttgccctcta
     3361 tggattttgg ctggatagcc tcacttcctg accataatca gaattcctca aatgacactg
     3421 gtcaggcaag ctgtcctcca ggtctttatc agacagtgcc cccagaggaa cactatcaaa
     3481 cattccccat tcaagaccct gatcaaatgc actctacttc agaccccagt cacagatcct
     3541 cttctccaga gctcagtgaa atgcttgagt atgaccgaag tcacaagtcc ttccccacag
     3601 atataagtca aatgtcccct tcctcagaac atgaagtctg gcagacagtc atctctccag
     3661 acctcagcca ggtgaccctc tctccagaac tcagccagac aaacctctct ccagacctca
     3721 gccacacgac tctctctcca gaactcattc agagaaacct ttccccagcc ctcggtcaga
     3781 tgcccatttc tccagacctc agccatacaa ccctttctcc agacctcagc catacaaccc
     3841 tttctttaga cctcagccag acaaacctct ctccagaact cagtcagaca aacctttctc
     3901 cagccctcgg tcagatgccc ctttctccag acctcagcca tacaaccctt tctctagact
     3961 tcagccagac aaacctctct ccagaactca gccatatgac tctctctcca gaactcagtc
     4021 agacaaacct ttccccagcc ctcggtcaga tgcccatttc tccagacctc agccatacaa
     4081 ccctttctct agacttcagc cagacaaacc tctctccaga actcagtcaa acaaaccttt
     4141 ccccagccct cggtcagatg cccctttctc cagaccccag ccatacaacc ctttctctag
     4201 acctcagcca gacaaacctc tctccagaac tcagtcagac aaacctttcc ccagacctca
     4261 gtgagatgcc cctctttgca gatctcagtc aaattcccct taccccagac ctcgaccaga
     4321 tgacactttc tccagacctt ggtgagacag atctttcccc aaactttggt cagatgtccc
     4381 tttccccaga cctcagccag gtgactctct ctccagacat cagtgacacc acccttctcc
     4441 cggatctcag ccagatatca cctcctccag accttgatca gatattctac ccttctgaat
     4501 ctagtcagtc attgcttctt caagaattta atgagtcttt tccttatcca gaccttggtc
     4561 agatgccatc tccttcatct cctactctca atgatacttt tctatcaaag gaatttaatc
     4621 cactggttat agtgggcctc agtaaagatg gtacagatta cattgagatc attccaaagg
     4681 aagaggtcca gagcagtgaa gatgactatg ctgaaattga ttatgtgccc tatgatgacc
     4741 cctacaaaac tgatgttagg acaaacatca actcctccag agatcctgac aacattgcag
     4801 catggtacct ccgcagcaac aatggaaaca gaagaaatta ttacattgct gctgaagaaa
     4861 tatcctggga ttattcagaa tttgtacaaa gggaaacaga tattgaagac tctgatgata
     4921 ttccagaaga taccacatat aagaaagtag tttttcgaaa gtacctcgac agcactttta
     4981 ccaaacgtga tcctcgaggg gagtatgaag agcatctcgg aattcttggt cctattatca
     5041 gagctgaagt ggatgatgtt atccaagttc gttttaaaaa tttagcatcc agaccgtatt
     5101 ctctacatgc ccatggactt tcctatgaaa aatcatcaga gggaaagact tatgaagatg
     5161 actctcctga atggtttaag gaagataatg ctgttcagcc aaatagcagt tatacctacg
     5221 tatggcatgc cactgagcga tcagggccag aaagtcctgg ctctgcctgt cgggcttggg
     5281 cctactactc agctgtgaac ccagaaaaag atattcactc aggcttgata ggtcccctcc
     5341 taatctgcca aaaaggaata ctacataagg acagcaacat gcctatggac atgagagaat
     5401 ttgtcttact atttatgacc tttgatgaaa agaagagctg gtactatgaa aagaagtccc
     5461 gaagttcttg gagactcaca tcctcagaaa tgaaaaaatc ccatgagttt cacgccatta
     5521 atgggatgat ctacagcttg cctggcctga aaatgtatga gcaagagtgg gtgaggttac
     5581 acctgctgaa cataggcggc tcccaagaca ttcacgtggt tcactttcac ggccagacct
     5641 tgctggaaaa tggcaataaa cagcaccagt taggggtctg gccccttctg cctggttcat
     5701 ttaaaactct tgaaatgaag gcatcaaaac ctggctggtg gctcctaaac acagaggttg
     5761 gagaaaacca gagagcaggg atgcaaacgc catttcttat catggacaga gactgtagga
     5821 tgccaatggg actaagcact ggtatcatat ctgattcaca gatcaaggct tcagagtttc
     5881 tgggttactg ggagcccaga ttagcaagat taaacaatgg tggatcttat aatgcttgga
     5941 gtgtagaaaa acttgcagca gaatttgcct ctaaaccttg gatccaggtg gacatgcaaa
     6001 aggaagtcat aatcacaggg atccagaccc aaggtgccaa acactacctg aagtcctgct
     6061 ataccacaga gttctatgta gcttacagtt ccaaccagat caactggcag atcttcaaag
     6121 ggaacagcac aaggaatgtg atgtatttta atggcaattc agatgcctct acaataaaag
     6181 agaatcagtt tgacccacct attgtggcta gatatattag gatctctcca actcgagcct
     6241 ataacagacc tacccttcga ttggaactgc aaggttgtga ggtaaatgga tgttccacac
     6301 ccctgggtat ggaaaatgga aagatagaaa acaagcaaat cacagcttct tcgtttaaga
     6361 aatcttggtg gggagattac tgggaaccct tccgtgcccg tctgaatgcc cagggacgtg
     6421 tgaatgcctg gcaagccaag gcaaacaaca ataagcagtg gctagaaatt gatctactca
     6481 agatcaagaa gataacggca attataacac agggctgcaa gtctctgtcc tctgaaatgt
     6541 atgtaaagag ctataccatc cactacagtg agcagggagt ggaatggaaa ccatacaggc
     6601 tgaaatcctc catggtggac aagatttttg aaggaaatac taataccaaa ggacatgtga
     6661 agaacttttt caacccccca atcatttcca ggtttatccg tgtcattcct aaaacatgga
     6721 atcaaagtat tgcacttcgc ctggaactct ttggctgtga tatttactag aattgaacat
     6781 tcaaaaaccc ctggaagaga ctctttaaga cctcaaacca tttagaatgg gcaatgtatt
     6841 ttacgctgtg ttaaatgtta acagttttcc actatttctc tttcttttct attagtgaat
     6901 aaaattttat acaagaagct tttataatgt aactccttgc taccagtaag taagataatg
     6961 gctattactt ctgcattaat ttgaatacag gtaggaaaat atcaagaacc aacaagaaaa
     7021 gggcttatct ttcttaatga ttgaaaatgc tatgaagtaa tatttatgta gttaaaatgc
     7081 ttcattataa ctcttttaaa tcctttacac actagtaaaa cagatattac tttaaataat
     7141 aattgataga cctggataac tttcacaaac acatgatttt ttaatggttt ttcttgagtg
     7201 aagagaaaaa caatattatc aaatgaaata agtacttaaa atatcctgtc tttcccatat
     7261 aacaatgatt tttctgactt tccatgagta aaaaaacagc caagcatctt tccagtagcc
     7321 ccattgaaat tgtgaatccg tcctggtctc cctaaggact gcacacattg atattcaagg
     7381 ttggtggtca ttagatatgg aacagaactg aaataaccat ggtagaactg aatgtgtaat
     7441 gttggcttta ttctagctgg tactacatgg cacacagttt caaaacataa tttcacctac
     7501 tggaaagctc agacctgtaa aacagagcat gggaactgct ggtctaaatg cagttgttcc
     7561 tgctcaaaga gacctctggc caaactggca agcagttaaa gttttctttc agggccttcc
     7621 tctctatggc ctcaacttcc tcctctctct tcttccagca acttcccctt tcatcattcc
     7681 tttccctggg gacttggcat tcagtgatcc tgtagatatt gcacaactgg ggaaccttta
     7741 gacatcctta aaatcacatg agatagacag tcatttgggg tgtctgaaat aaaccacccc
     7801 aaaacttagt gttaaaagag caaccaaaaa aaatttatgt gagattatgg atttgttact
     7861 tagcttgatt taatcatcct gtaacgtgta catatatcaa aatgttatgt ataccataaa
     7921 tatataaaat tttatcaacg aaattcataa caatctctca gaccacagag aaatcaaatt
     7981 agaactgagg actaagaaac tcactcgaaa ccacacaact acatggaaac tgaacaacct
     8041 gctcctgaat gactactggg taaataatga aattaaggca gaaataaata agttccttaa
     8101 aaccaatgag aacaaagaga caacatacca gaatctctag gagacagggc tttgcttttg
     8161 ctgcattcta ttcgttgtga acacaaatta caggccagtc tcgattcagt gtagaaggga
     8221 actgcataag gaccacatac caggaggcat aattcactgg gagcatcttt agaaactacc
     8281 agagttacct gttgcccata ccagtggggt aagccctatg aatgtatatg agagtttcaa
     8341 acatccacaa aacattggct ttctaatatt cgtattccca ctattccttt cttttcatga
     8401 ttcatgtcat tgtcccatca acatttctaa gatttccatt ccgttaagag caaaagagaa
     8461 tgttggaagg tgggggaaaa catttctttg ttttctacag ggccagcttc ttggatgtgt
     8521 gtgatctgtt cagttgcaaa gggtcacatg ctcagaagga ccgcatgcta aatttaatgc
     8581 tttgcagtta ccctcttgaa atcctttatt ttttaagaag gaattcgaca tttccatttt
     8641 tcaatgagcc ccacaaatta cgcagctagt cctgggcttc tctactctga aattgggcag
     8701 gatctctctt gatctagaat ttactaaggc ataatagggg caagaaaatc ttatgaaata
     8761 atggggggta gggaagagat gggaatggag catgagatcc agcttcgtta ttctctactt
     8821 gagaaaaata aggccccaaa gattaaacaa cttgcccaag gatattgctt gttagtgtca
     8881 gaactgaaac cagaaaccaa atgatcatat ccctagactt ttagtctgct ttctcttcca
     8941 taaaatgaaa cttataatgt ttctaatcca ttgctcagac aggtagacat gaatattaat
     9001 tgataatgac tattaattga tctggaaaat acttgtttgg ggatcaataa tatgtttggg
     9061 ctattatcta atgctgtgta gaaatattaa aacccctgtt attttgaaat aaaaaagata
     9121 cccacttttt at
//
LOCUS       NM_000132               9032 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens coagulation factor VIII (F8), transcript variant 1,
            mRNA.
ACCESSION   NM_000132
VERSION     NM_000132.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9032)
  AUTHORS   Butera D, Wang HJ, Woon HG, Zhao YC, Ju LA and Hogg PJ.
  TITLE     Mechano-covalent protection of coagulation factor VIII by von
            Willebrand factor
  JOURNAL   Blood Adv 7 (10), 2117-2128 (2023)
   PUBMED   36240294
  REMARK    GeneRIF: Mechano-covalent protection of coagulation factor VIII by
            von Willebrand factor.
REFERENCE   2  (bases 1 to 9032)
  AUTHORS   Nakajima Y, Takeyama M, Oda A, Shimonishi N and Nogami K.
  TITLE     Factor VIII mutated with Lys1813Ala within the factor IXa-binding
            region enhances intrinsic coagulation potential
  JOURNAL   Blood Adv 7 (8), 1436-1445 (2023)
   PUBMED   36322904
  REMARK    GeneRIF: Factor VIII mutated with Lys1813Ala within the factor
            IXa-binding region enhances intrinsic coagulation potential.
REFERENCE   3  (bases 1 to 9032)
  AUTHORS   Testa MF, Lombardi S, Bernardi F, Ferrarese M, Belvini D, Radossi P,
            Castaman G, Pinotti M and Branchini A.
  TITLE     Translational readthrough at F8 nonsense variants in the factor VIII
            B domain contributes to residual expression and lowers inhibitor
            association
  JOURNAL   Haematologica 108 (2), 472-482 (2023)
   PUBMED   35924581
  REMARK    GeneRIF: Translational readthrough at F8 nonsense variants in the
            factor VIII B domain contributes to residual expression and lowers
            inhibitor association. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 9032)
  AUTHORS   Hough C, Notley C, Mo A, Videl B and Lillicrap D.
  TITLE     Heterogeneity and reciprocity of FVIII and VWF expression, and the
            response to shear stress in cultured human endothelial cells
  JOURNAL   J Thromb Haemost 20 (11), 2507-2518 (2022)
   PUBMED   35950488
  REMARK    GeneRIF: Heterogeneity and reciprocity of FVIII and VWF expression,
            and the response to shear stress in cultured human endothelial
            cells.
REFERENCE   5  (bases 1 to 9032)
  AUTHORS   Zhu LK, Zhang XL, Liu XE, Qin XY, Wang G and Yang LH.
  TITLE     [Correlation Analysis of FGene Mutation and the Production of F
            Inhibitor with Severe Hemophilia A Patients in a Single Medical
            Center]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 30 (5), 1536-1540 (2022)
   PUBMED   36208262
  REMARK    GeneRIF: [Correlation Analysis of FGene Mutation and the Production
            of F Inhibitor with Severe Hemophilia A Patients in a Single Medical
            Center].
REFERENCE   6  (bases 1 to 9032)
  AUTHORS   Konkle,B.A. and Nakaya Fletcher,S.
  TITLE     Hemophilia A
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301578
REFERENCE   7  (bases 1 to 9032)
  AUTHORS   Jonsdottir S, Diamond C, Levinson B, Magnusson S, Jensson O and
            Gitschier J.
  TITLE     Missense mutations causing mild hemophilia A in Iceland detected by
            denaturing gradient gel electrophoresis
  JOURNAL   Hum Mutat 1 (6), 506-508 (1992)
   PUBMED   1301960
REFERENCE   8  (bases 1 to 9032)
  AUTHORS   Diamond C, Kogan S, Levinson B and Gitschier J.
  TITLE     Amino acid substitutions in conserved domains of factor VIII and
            related proteins: study of patients with mild and moderately severe
            hemophilia A
  JOURNAL   Hum Mutat 1 (3), 248-257 (1992)
   PUBMED   1301932
REFERENCE   9  (bases 1 to 9032)
  AUTHORS   Nafa K, Baudis M, Deburgrave N, Bardin JM, Sultan Y, Kaplan JC and
            Delpech M.
  TITLE     A novel mutation (Arg-->Leu in exon 18) in factor VIII gene
            responsible for moderate hemophilia A
  JOURNAL   Hum Mutat 1 (1), 77-78 (1992)
   PUBMED   1301194
REFERENCE   10  (bases 1 to 9032)
  AUTHORS   Zucker,M.B., Broekman,M.J. and Kaplan,K.L.
  TITLE     Factor VIII-related antigen in human blood platelets: localization
            and release by thrombin and collagen
  JOURNAL   J Lab Clin Med 94 (5), 675-682 (1979)
   PUBMED   501196
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M14113.1, X01179.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000360256.9/ ENSP00000353393.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M14113.1, AC109993.4 and
            BC022513.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 24, 2020 this sequence version replaced NM_000132.3.
            Summary: This gene encodes coagulation factor VIII, which
            participates in the intrinsic pathway of blood coagulation; factor
            VIII is a cofactor for factor IXa which, in the presence of Ca+2
            and phospholipids, converts factor X to the activated form Xa.
            This gene produces two alternatively spliced transcripts.
            Transcript variant 1 encodes a large glycoprotein, isoform a, which
            circulates in plasma and associates with von Willebrand factor in a
            noncovalent complex. This protein undergoes multiple cleavage
            events. Transcript variant 2 encodes a putative small protein,
            isoform b, which consists primarily of the phospholipid binding
            domain of factor VIIIc. This binding domain is essential for
            coagulant activity. Defects in this gene results in hemophilia A, a
            common recessive X-linked coagulation disorder. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1) consists of 26 exons and
            encodes the full-length isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..9032
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..9032
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="coagulation factor VIII"
                     /db_xref="GeneID:2157"
                     /db_xref="HGNC:HGNC:3546"
                     /db_xref="MIM:300841"
     misc_feature    166..168
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="upstream in-frame stop codon"
     CDS             172..7227
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="isoform a preproprotein is encoded by transcript
                     variant 1; factor VIII F8B; coagulation factor VIIIc;
                     antihemophilic factor; coagulation factor VIII,
                     procoagulant component; coagulation factor VIII C2 domain;
                     coagulation factor VIII A1 domain"
                     /codon_start=1
                     /product="coagulation factor VIII isoform a preproprotein"
                     /protein_id="NP_000123.1"
                     /db_xref="CCDS:CCDS35457.1"
                     /db_xref="GeneID:2157"
                     /db_xref="HGNC:HGNC:3546"
                     /db_xref="MIM:300841"
                     /translation="MQIELSTCFFLCLLRFCFSATRRYYLGAVELSWDYMQSDLGELPV
                     DARFPPRVPKSFPFNTSVVYKKTLFVEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVV
                     ITLKNMASHPVSLHAVGVSYWKASEGAEYDDQTSQREKEDDKVFPGGSHTYVWQVLKEN
                     GPMASDPLCLTYSYLSHVDLVKDLNSGLIGALLVCREGSLAKEKTQTLHKFILLFAVFD
                     EGKSWHSETKNSLMQDRDAASARAWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMGT
                     TPEVHSIFLEGHTFLVRNHRQASLEISPITFLTAQTLLMDLGQFLLFCHISSHQHDGME
                     AYVKVDSCPEEPQLRMKNNEEAEDYDDDLTDSEMDVVRFDDDNSPSFIQIRSVAKKHPK
                     TWVHYIAAEEEDWDYAPLVLAPDDRSYKSQYLNNGPQRIGRKYKKVRFMAYTDETFKTR
                     EAIQHESGILGPLLYGEVGDTLLIIFKNQASRPYNIYPHGITDVRPLYSRRLPKGVKHL
                     KDFPILPGEIFKYKWTVTVEDGPTKSDPRCLTRYYSSFVNMERDLASGLIGPLLICYKE
                     SVDQRGNQIMSDKRNVILFSVFDENRSWYLTENIQRFLPNPAGVQLEDPEFQASNIMHS
                     INGYVFDSLQLSVCLHEVAYWYILSIGAQTDFLSVFFSGYTFKHKMVYEDTLTLFPFSG
                     ETVFMSMENPGLWILGCHNSDFRNRGMTALLKVSSCDKNTGDYYEDSYEDISAYLLSKN
                     NAIEPRSFSQNSRHPSTRQKQFNATTIPENDIEKTDPWFAHRTPMPKIQNVSSSDLLML
                     LRQSPTPHGLSLSDLQEAKYETFSDDPSPGAIDSNNSLSEMTHFRPQLHHSGDMVFTPE
                     SGLQLRLNEKLGTTAATELKKLDFKVSSTSNNLISTIPSDNLAAGTDNTSSLGPPSMPV
                     HYDSQLDTTLFGKKSSPLTESGGPLSLSEENNDSKLLESGLMNSQESSWGKNVSSTESG
                     RLFKGKRAHGPALLTKDNALFKVSISLLKTNKTSNNSATNRKTHIDGPSLLIENSPSVW
                     QNILESDTEFKKVTPLIHDRMLMDKNATALRLNHMSNKTTSSKNMEMVQQKKEGPIPPD
                     AQNPDMSFFKMLFLPESARWIQRTHGKNSLNSGQGPSPKQLVSLGPEKSVEGQNFLSEK
                     NKVVVGKGEFTKDVGLKEMVFPSSRNLFLTNLDNLHENNTHNQEKKIQEEIEKKETLIQ
                     ENVVLPQIHTVTGTKNFMKNLFLLSTRQNVEGSYDGAYAPVLQDFRSLNDSTNRTKKHT
                     AHFSKKGEEENLEGLGNQTKQIVEKYACTTRISPNTSQQNFVTQRSKRALKQFRLPLEE
                     TELEKRIIVDDTSTQWSKNMKHLTPSTLTQIDYNEKEKGAITQSPLSDCLTRSHSIPQA
                     NRSPLPIAKVSSFPSIRPIYLTRVLFQDNSSHLPAASYRKKDSGVQESSHFLQGAKKNN
                     LSLAILTLEMTGDQREVGSLGTSATNSVTYKKVENTVLPKPDLPKTSGKVELLPKVHIY
                     QKDLFPTETSNGSPGHLDLVEGSLLQGTEGAIKWNEANRPGKVPFLRVATESSAKTPSK
                     LLDPLAWDNHYGTQIPKEEWKSQEKSPEKTAFKKKDTILSLNACESNHAIAAINEGQNK
                     PEIEVTWAKQGRTERLCSQNPPVLKRHQREITRTTLQSDQEEIDYDDTISVEMKKEDFD
                     IYDEDENQSPRSFQKKTRHYFIAAVERLWDYGMSSSPHVLRNRAQSGSVPQFKKVVFQE
                     FTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFRNQASRPYSFYSSLISYEEDQ
                     RQGAEPRKNFVKPNETKTYFWKVQHHMAPTKDEFDCKAWAYFSDVDLEKDVHSGLIGPL
                     LVCHTNTLNPAHGRQVTVQEFALFFTIFDETKSWYFTENMERNCRAPCNIQMEDPTFKE
                     NYRFHAINGYIMDTLPGLVMAQDQRIRWYLLSMGSNENIHSIHFSGHVFTVRKKEEYKM
                     ALYNLYPGVFETVEMLPSKAGIWRVECLIGEHLHAGMSTLFLVYSNKCQTPLGMASGHI
                     RDFQITASGQYGQWAPKLARLHYSGSINAWSTKEPFSWIKVDLLAPMIIHGIKTQGARQ
                     KFSSLYISQFIIMYSLDGKKWQTYRGNSTGTLMVFFGNVDSSGIKHNIFNPPIIARYIR
                     LHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFATWSPSKAR
                     LHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFLISSSQDG
                     HQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRMEVLGCE
                     AQDLY"
     sig_peptide     172..228
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     229..7224
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /product="Coagulation factor VIII. /id=PRO_0000002967"
                     /note="propagated from UniProtKB/Swiss-Prot (P00451.1)"
     mat_peptide     229..4167
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /product="Factor VIIIa heavy chain, 200 kDa isoform.
                     /id=PRO_0000002968"
                     /note="propagated from UniProtKB/Swiss-Prot (P00451.1)"
     mat_peptide     229..2448
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /product="Factor VIIIa heavy chain, 92 kDa isoform.
                     /id=PRO_0000002969"
                     /note="propagated from UniProtKB/Swiss-Prot (P00451.1)"
     misc_feature    349..351
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    943..945
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    1264..1266
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:10368977,
                     ECO:0000269|PubMed:1554716; propagated from
                     UniProtKB/Swiss-Prot (P00451.1); sulfatation site"
     misc_feature    1342..1347
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="Cleavage, by thrombin; propagated from
                     UniProtKB/Swiss-Prot (P00451.1); cleavage site"
     misc_feature    1972..1974
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P00451.1); glycosylation site"
     misc_feature    2380..2382
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:10368977; propagated from
                     UniProtKB/Swiss-Prot (P00451.1); sulfatation site"
     misc_feature    2383..2385
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:10368977; propagated from
                     UniProtKB/Swiss-Prot (P00451.1); sulfatation site"
     misc_feature    2395..2397
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:10368977; propagated from
                     UniProtKB/Swiss-Prot (P00451.1); sulfatation site"
     misc_feature    2446..2451
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="Cleavage, by thrombin; propagated from
                     UniProtKB/Swiss-Prot (P00451.1); cleavage site"
     misc_feature    2449..5172
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="propagated from UniProtKB/Swiss-Prot (P00451.1);
                     Region: B"
     mat_peptide     2449..4167
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /product="Factor VIII B chain. /id=PRO_0000002970"
                     /note="propagated from UniProtKB/Swiss-Prot (P00451.1)"
     misc_feature    2497..2499
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    2578..2580
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    2710..2712
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    2887..2955
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="propagated from UniProtKB/Swiss-Prot (P00451.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2926..2928
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    2992..3054
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="propagated from UniProtKB/Swiss-Prot (P00451.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3055..3057
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    3115..3117
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    3229..3231
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    3241..3243
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    3391..3393
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    3424..3426
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    3781..3783
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    3991..3993
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    4003..4005
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    4072..4074
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    4126..4128
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    4165..4170
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="Cleavage (activation); propagated from
                     UniProtKB/Swiss-Prot (P00451.1); cleavage site"
     misc_feature    4462..4464
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    4552..4554
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    5170..5175
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="Cleavage (activation); propagated from
                     UniProtKB/Swiss-Prot (P00451.1); cleavage site"
     mat_peptide     5173..7224
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /product="Factor VIIIa light chain. /id=PRO_0000002971"
                     /note="propagated from UniProtKB/Swiss-Prot (P00451.1)"
     misc_feature    5218..5220
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:10368977,
                     ECO:0000269|PubMed:1554716; propagated from
                     UniProtKB/Swiss-Prot (P00451.1); sulfatation site"
     misc_feature    5266..5268
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:10368977,
                     ECO:0000269|PubMed:1554716, ECO:0000269|PubMed:1898735;
                     propagated from UniProtKB/Swiss-Prot (P00451.1);
                     sulfatation site"
     misc_feature    5293..5298
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="Cleavage, by thrombin; propagated from
                     UniProtKB/Swiss-Prot (P00451.1); cleavage site"
     misc_feature    5656..5658
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     misc_feature    6580..6582
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00451.1); glycosylation site"
     regulatory      9010..9015
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="hexamer: AATAAA"
     polyA_site      9032
                     /gene="F8"
                     /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
                     THPH13"
                     /note="major polyA site"
ORIGIN
        1 gcttagtgct gagcacatcc agtgggtaaa gttccttaaa atgctctgca aagaaattgg
       61 gacttttcat taaatcagaa attttacttt tttcccctcc tgggagctaa agatatttta
      121 gagaagaatt aaccttttgc ttctccagtt gaacatttgt agcaataagt catgcaaata
      181 gagctctcca cctgcttctt tctgtgcctt ttgcgattct gctttagtgc caccagaaga
      241 tactacctgg gtgcagtgga actgtcatgg gactatatgc aaagtgatct cggtgagctg
      301 cctgtggacg caagatttcc tcctagagtg ccaaaatctt ttccattcaa cacctcagtc
      361 gtgtacaaaa agactctgtt tgtagaattc acggatcacc ttttcaacat cgctaagcca
      421 aggccaccct ggatgggtct gctaggtcct accatccagg ctgaggttta tgatacagtg
      481 gtcattacac ttaagaacat ggcttcccat cctgtcagtc ttcatgctgt tggtgtatcc
      541 tactggaaag cttctgaggg agctgaatat gatgatcaga ccagtcaaag ggagaaagaa
      601 gatgataaag tcttccctgg tggaagccat acatatgtct ggcaggtcct gaaagagaat
      661 ggtccaatgg cctctgaccc actgtgcctt acctactcat atctttctca tgtggacctg
      721 gtaaaagact tgaattcagg cctcattgga gccctactag tatgtagaga agggagtctg
      781 gccaaggaaa agacacagac cttgcacaaa tttatactac tttttgctgt atttgatgaa
      841 gggaaaagtt ggcactcaga aacaaagaac tccttgatgc aggataggga tgctgcatct
      901 gctcgggcct ggcctaaaat gcacacagtc aatggttatg taaacaggtc tctgccaggt
      961 ctgattggat gccacaggaa atcagtctat tggcatgtga ttggaatggg caccactcct
     1021 gaagtgcact caatattcct cgaaggtcac acatttcttg tgaggaacca tcgccaggcg
     1081 tccttggaaa tctcgccaat aactttcctt actgctcaaa cactcttgat ggaccttgga
     1141 cagtttctac tgttttgtca tatctcttcc caccaacatg atggcatgga agcttatgtc
     1201 aaagtagaca gctgtccaga ggaaccccaa ctacgaatga aaaataatga agaagcggaa
     1261 gactatgatg atgatcttac tgattctgaa atggatgtgg tcaggtttga tgatgacaac
     1321 tctccttcct ttatccaaat tcgctcagtt gccaagaagc atcctaaaac ttgggtacat
     1381 tacattgctg ctgaagagga ggactgggac tatgctccct tagtcctcgc ccccgatgac
     1441 agaagttata aaagtcaata tttgaacaat ggccctcagc ggattggtag gaagtacaaa
     1501 aaagtccgat ttatggcata cacagatgaa acctttaaga ctcgtgaagc tattcagcat
     1561 gaatcaggaa tcttgggacc tttactttat ggggaagttg gagacacact gttgattata
     1621 tttaagaatc aagcaagcag accatataac atctaccctc acggaatcac tgatgtccgt
     1681 cctttgtatt caaggagatt accaaaaggt gtaaaacatt tgaaggattt tccaattctg
     1741 ccaggagaaa tattcaaata taaatggaca gtgactgtag aagatgggcc aactaaatca
     1801 gatcctcggt gcctgacccg ctattactct agtttcgtta atatggagag agatctagct
     1861 tcaggactca ttggccctct cctcatctgc tacaaagaat ctgtagatca aagaggaaac
     1921 cagataatgt cagacaagag gaatgtcatc ctgttttctg tatttgatga gaaccgaagc
     1981 tggtacctca cagagaatat acaacgcttt ctccccaatc cagctggagt gcagcttgag
     2041 gatccagagt tccaagcctc caacatcatg cacagcatca atggctatgt ttttgatagt
     2101 ttgcagttgt cagtttgttt gcatgaggtg gcatactggt acattctaag cattggagca
     2161 cagactgact tcctttctgt cttcttctct ggatatacct tcaaacacaa aatggtctat
     2221 gaagacacac tcaccctatt cccattctca ggagaaactg tcttcatgtc gatggaaaac
     2281 ccaggtctat ggattctggg gtgccacaac tcagactttc ggaacagagg catgaccgcc
     2341 ttactgaagg tttctagttg tgacaagaac actggtgatt attacgagga cagttatgaa
     2401 gatatttcag catacttgct gagtaaaaac aatgccattg aaccaagaag cttctcccag
     2461 aattcaagac accctagcac taggcaaaag caatttaatg ccaccacaat tccagaaaat
     2521 gacatagaga agactgaccc ttggtttgca cacagaacac ctatgcctaa aatacaaaat
     2581 gtctcctcta gtgatttgtt gatgctcttg cgacagagtc ctactccaca tgggctatcc
     2641 ttatctgatc tccaagaagc caaatatgag actttttctg atgatccatc acctggagca
     2701 atagacagta ataacagcct gtctgaaatg acacacttca ggccacagct ccatcacagt
     2761 ggggacatgg tatttacccc tgagtcaggc ctccaattaa gattaaatga gaaactgggg
     2821 acaactgcag caacagagtt gaagaaactt gatttcaaag tttctagtac atcaaataat
     2881 ctgatttcaa caattccatc agacaatttg gcagcaggta ctgataatac aagttcctta
     2941 ggacccccaa gtatgccagt tcattatgat agtcaattag ataccactct atttggcaaa
     3001 aagtcatctc cccttactga gtctggtgga cctctgagct tgagtgaaga aaataatgat
     3061 tcaaagttgt tagaatcagg tttaatgaat agccaagaaa gttcatgggg aaaaaatgta
     3121 tcgtcaacag agagtggtag gttatttaaa gggaaaagag ctcatggacc tgctttgttg
     3181 actaaagata atgccttatt caaagttagc atctctttgt taaagacaaa caaaacttcc
     3241 aataattcag caactaatag aaagactcac attgatggcc catcattatt aattgagaat
     3301 agtccatcag tctggcaaaa tatattagaa agtgacactg agtttaaaaa agtgacacct
     3361 ttgattcatg acagaatgct tatggacaaa aatgctacag ctttgaggct aaatcatatg
     3421 tcaaataaaa ctacttcatc aaaaaacatg gaaatggtcc aacagaaaaa agagggcccc
     3481 attccaccag atgcacaaaa tccagatatg tcgttcttta agatgctatt cttgccagaa
     3541 tcagcaaggt ggatacaaag gactcatgga aagaactctc tgaactctgg gcaaggcccc
     3601 agtccaaagc aattagtatc cttaggacca gaaaaatctg tggaaggtca gaatttcttg
     3661 tctgagaaaa acaaagtggt agtaggaaag ggtgaattta caaaggacgt aggactcaaa
     3721 gagatggttt ttccaagcag cagaaaccta tttcttacta acttggataa tttacatgaa
     3781 aataatacac acaatcaaga aaaaaaaatt caggaagaaa tagaaaagaa ggaaacatta
     3841 atccaagaga atgtagtttt gcctcagata catacagtga ctggcactaa gaatttcatg
     3901 aagaaccttt tcttactgag cactaggcaa aatgtagaag gttcatatga cggggcatat
     3961 gctccagtac ttcaagattt taggtcatta aatgattcaa caaatagaac aaagaaacac
     4021 acagctcatt tctcaaaaaa aggggaggaa gaaaacttgg aaggcttggg aaatcaaacc
     4081 aagcaaattg tagagaaata tgcatgcacc acaaggatat ctcctaatac aagccagcag
     4141 aattttgtca cgcaacgtag taagagagct ttgaaacaat tcagactccc actagaagaa
     4201 acagaacttg aaaaaaggat aattgtggat gacacctcaa cccagtggtc caaaaacatg
     4261 aaacatttga ccccgagcac cctcacacag atagactaca atgagaagga gaaaggggcc
     4321 attactcagt ctcccttatc agattgcctt acgaggagtc atagcatccc tcaagcaaat
     4381 agatctccat tacccattgc aaaggtatca tcatttccat ctattagacc tatatatctg
     4441 accagggtcc tattccaaga caactcttct catcttccag cagcatctta tagaaagaaa
     4501 gattctgggg tccaagaaag cagtcatttc ttacaaggag ccaaaaaaaa taacctttct
     4561 ttagccattc taaccttgga gatgactggt gatcaaagag aggttggctc cctggggaca
     4621 agtgccacaa attcagtcac atacaagaaa gttgagaaca ctgttctccc gaaaccagac
     4681 ttgcccaaaa catctggcaa agttgaattg cttccaaaag ttcacattta tcagaaggac
     4741 ctattcccta cggaaactag caatgggtct cctggccatc tggatctcgt ggaagggagc
     4801 cttcttcagg gaacagaggg agcgattaag tggaatgaag caaacagacc tggaaaagtt
     4861 ccctttctga gagtagcaac agaaagctct gcaaagactc cctccaagct attggatcct
     4921 cttgcttggg ataaccacta tggtactcag ataccaaaag aagagtggaa atcccaagag
     4981 aagtcaccag aaaaaacagc ttttaagaaa aaggatacca ttttgtccct gaacgcttgt
     5041 gaaagcaatc atgcaatagc agcaataaat gagggacaaa ataagcccga aatagaagtc
     5101 acctgggcaa agcaaggtag gactgaaagg ctgtgctctc aaaacccacc agtcttgaaa
     5161 cgccatcaac gggaaataac tcgtactact cttcagtcag atcaagagga aattgactat
     5221 gatgatacca tatcagttga aatgaagaag gaagattttg acatttatga tgaggatgaa
     5281 aatcagagcc cccgcagctt tcaaaagaaa acacgacact attttattgc tgcagtggag
     5341 aggctctggg attatgggat gagtagctcc ccacatgttc taagaaacag ggctcagagt
     5401 ggcagtgtcc ctcagttcaa gaaagttgtt ttccaggaat ttactgatgg ctcctttact
     5461 cagcccttat accgtggaga actaaatgaa catttgggac tcctggggcc atatataaga
     5521 gcagaagttg aagataatat catggtaact ttcagaaatc aggcctctcg tccctattcc
     5581 ttctattcta gccttatttc ttatgaggaa gatcagaggc aaggagcaga acctagaaaa
     5641 aactttgtca agcctaatga aaccaaaact tacttttgga aagtgcaaca tcatatggca
     5701 cccactaaag atgagtttga ctgcaaagcc tgggcttatt tctctgatgt tgacctggaa
     5761 aaagatgtgc actcaggcct gattggaccc cttctggtct gccacactaa cacactgaac
     5821 cctgctcatg ggagacaagt gacagtacag gaatttgctc tgtttttcac catctttgat
     5881 gagaccaaaa gctggtactt cactgaaaat atggaaagaa actgcagggc tccctgcaat
     5941 atccagatgg aagatcccac ttttaaagag aattatcgct tccatgcaat caatggctac
     6001 ataatggata cactacctgg cttagtaatg gctcaggatc aaaggattcg atggtatctg
     6061 ctcagcatgg gcagcaatga aaacatccat tctattcatt tcagtggaca tgtgttcact
     6121 gtacgaaaaa aagaggagta taaaatggca ctgtacaatc tctatccagg tgtttttgag
     6181 acagtggaaa tgttaccatc caaagctgga atttggcggg tggaatgcct tattggcgag
     6241 catctacatg ctgggatgag cacacttttt ctggtgtaca gcaataagtg tcagactccc
     6301 ctgggaatgg cttctggaca cattagagat tttcagatta cagcttcagg acaatatgga
     6361 cagtgggccc caaagctggc cagacttcat tattccggat caatcaatgc ctggagcacc
     6421 aaggagccct tttcttggat caaggtggat ctgttggcac caatgattat tcacggcatc
     6481 aagacccagg gtgcccgtca gaagttctcc agcctctaca tctctcagtt tatcatcatg
     6541 tatagtcttg atgggaagaa gtggcagact tatcgaggaa attccactgg aaccttaatg
     6601 gtcttctttg gcaatgtgga ttcatctggg ataaaacaca atatttttaa ccctccaatt
     6661 attgctcgat acatccgttt gcacccaact cattatagca ttcgcagcac tcttcgcatg
     6721 gagttgatgg gctgtgattt aaatagttgc agcatgccat tgggaatgga gagtaaagca
     6781 atatcagatg cacagattac tgcttcatcc tactttacca atatgtttgc cacctggtct
     6841 ccttcaaaag ctcgacttca cctccaaggg aggagtaatg cctggagacc tcaggtgaat
     6901 aatccaaaag agtggctgca agtggacttc cagaagacaa tgaaagtcac aggagtaact
     6961 actcagggag taaaatctct gcttaccagc atgtatgtga aggagttcct catctccagc
     7021 agtcaagatg gccatcagtg gactctcttt tttcagaatg gcaaagtaaa ggtttttcag
     7081 ggaaatcaag actccttcac acctgtggtg aactctctag acccaccgtt actgactcgc
     7141 taccttcgaa ttcaccccca gagttgggtg caccagattg ccctgaggat ggaggttctg
     7201 ggctgcgagg cacaggacct ctactgaggg tggccactgc agcacctgcc actgccgtca
     7261 cctctccctc ctcagctcca gggcagtgtc cctccctggc ttgccttcta cctttgtgct
     7321 aaatcctagc agacactgcc ttgaagcctc ctgaattaac tatcatcagt cctgcatttc
     7381 tttggtgggg ggccaggagg gtgcatccaa tttaacttaa ctcttaccta ttttctgcag
     7441 ctgctcccag attactcctt ccttccaata taactaggca aaaagaagtg aggagaaacc
     7501 tgcatgaaag cattcttccc tgaaaagtta ggcctctcag agtcaccact tcctctgttg
     7561 tagaaaaact atgtgatgaa actttgaaaa agatatttat gatgttaaca tttcaggtta
     7621 agcctcatac gtttaaaata aaactctcag ttgtttatta tcctgatcaa gcatggaaca
     7681 aagcatgttt caggatcaga tcaatacaat cttggagtca aaaggcaaat catttggaca
     7741 atctgcaaaa tggagagaat acaataacta ctacagtaaa gtctgtttct gcttccttac
     7801 acatagatat aattatgtta tttagtcatt atgaggggca cattcttatc tccaaaacta
     7861 gcattcttaa actgagaatt atagatgggg ttcaagaatc cctaagtccc ctgaaattat
     7921 ataaggcatt ctgtataaat gcaaatgtgc atttttctga cgagtgtcca tagatataaa
     7981 gccatttggt cttaattctg accaataaaa aaataagtca ggaggatgca attgttgaaa
     8041 gctttgaaat aaaataacaa tgtcttcttg aaatttgtga tggccaagaa agaaaatgat
     8101 gatgacatta ggcttctaaa ggacatacat ttaatatttc tgtggaaata tgaggaaaat
     8161 ccatggttat ctgagatagg agatacaaac tttgtaattc taataatgca ctcagtttac
     8221 tctctccctc tactaatttc ctgctgaaaa taacacaaca aaaatgtaac aggggaaatt
     8281 atataccgtg actgaaaact agagtcctac ttacatagtt gaaatatcaa ggaggtcaga
     8341 agaaaattgg actggtgaaa acagaaaaaa cactccagtc tgccatatca ccacacaata
     8401 ggatccccct tcttgccctc cacccccata agattgtgaa gggtttactg ctccttccat
     8461 ctgcctgacc ccttcactat gactacacag aatctcctga tagtaaaggg ggctggagac
     8521 aaggataagt tatagagcag ttggaggaag catccaaaga ttgcaaccca gggcaaatgg
     8581 aaaacaggag atcctaatat gaaagaaaaa tggatcccaa tctgagaaaa ggcaaaagaa
     8641 tggctacttt tttctatgct ggagtatttt ctaataatcc tgcttgaccc ttatctgacc
     8701 tctttggaaa ctataacata gctgtcacag tatagtcaca atccacaaat gatgcaggtg
     8761 caaatggttt atagccctgt gaagttctta aagtttagag gctaacttac agaaatgaat
     8821 aagttgtttt gttttatagc ccggtagagg agttaacccc aaaggtgata tggttttatt
     8881 tcctgttatg tttaacttga taatcttatt ttggcattct tttcccattg actatataca
     8941 tctctatttc tcaaatgttc atggaactag ctcttttatt ttcctgctgg tttcttcagt
     9001 aatgagttaa ataaaacatt gacacataca aa
//
LOCUS       NM_000133               2800 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens coagulation factor IX (F9), transcript variant 1, mRNA.
ACCESSION   NM_000133
VERSION     NM_000133.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2800)
  AUTHORS   Wang R, Jiang S, Wang X, Wei D, Xu Q and Wu W.
  TITLE     Structural and functional exploration of three newly identified
            coagulation factor IX mutations in Chinese hemophilia B patients
  JOURNAL   Int J Hematol 118 (2), 201-209 (2023)
   PUBMED   37210691
  REMARK    GeneRIF: Structural and functional exploration of three newly
            identified coagulation factor IX mutations in Chinese hemophilia B
            patients.
REFERENCE   2  (bases 1 to 2800)
  AUTHORS   Xu Z, Spencer HJ, Harris VA and Perkins SJ.
  TITLE     An updated interactive database for 1692 genetic variants in
            coagulation factor IX provides detailed insights into hemophilia B
  JOURNAL   J Thromb Haemost 21 (5), 1164-1176 (2023)
   PUBMED   36787808
  REMARK    GeneRIF: An updated interactive database for 1692 genetic variants
            in coagulation factor IX provides detailed insights into hemophilia
            B.
REFERENCE   3  (bases 1 to 2800)
  AUTHORS   Ivanciu L, Arruda VR and Camire RM.
  TITLE     Factor IXa variants resistant to plasma inhibitors enhance clot
            formation in vivo
  JOURNAL   Blood 141 (16), 2022-2032 (2023)
   PUBMED   36724452
  REMARK    GeneRIF: Factor IXa variants resistant to plasma inhibitors enhance
            clot formation in vivo.
REFERENCE   4  (bases 1 to 2800)
  AUTHORS   Dericquebourg A, Fretigny M, Chatron N, Tardy B, Zawadzki C,
            Chambost H, Vinciguerra C and Jourdy Y.
  TITLE     Whole F9 gene sequencing identified deep intronic variations in
            genetically unresolved hemophilia B patients
  JOURNAL   J Thromb Haemost 21 (4), 828-837 (2023)
   PUBMED   36696202
  REMARK    GeneRIF: Whole F9 gene sequencing identified deep intronic
            variations in genetically unresolved hemophilia B patients.
REFERENCE   5  (bases 1 to 2800)
  AUTHORS   Konkle,B.A. and Nakaya Fletcher,S.
  TITLE     Hemophilia B
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301668
REFERENCE   6  (bases 1 to 2800)
  AUTHORS   Baron M, Norman DG, Harvey TS, Handford PA, Mayhew M, Tse AG,
            Brownlee GG and Campbell ID.
  TITLE     The three-dimensional structure of the first EGF-like module of
            human factor IX: comparison with EGF and TGF-alpha
  JOURNAL   Protein Sci 1 (1), 81-90 (1992)
   PUBMED   1304885
REFERENCE   7  (bases 1 to 2800)
  AUTHORS   Anson,D.S., Choo,K.H., Rees,D.J., Giannelli,F., Gould,K.,
            Huddleston,J.A. and Brownlee,G.G.
  TITLE     The gene structure of human anti-haemophilic factor IX
  JOURNAL   EMBO J 3 (5), 1053-1060 (1984)
   PUBMED   6329734
REFERENCE   8  (bases 1 to 2800)
  AUTHORS   Di Scipio,R.G., Kurachi,K. and Davie,E.W.
  TITLE     Activation of human factor IX (Christmas factor)
  JOURNAL   J Clin Invest 61 (6), 1528-1538 (1978)
   PUBMED   659613
REFERENCE   9  (bases 1 to 2800)
  AUTHORS   Gentry,P.A.
  TITLE     Interaction of heparin with canine coagulation proteins: in vivo and
            in vitro studies
  JOURNAL   Can J Comp Med 41 (4), 396-403 (1977)
   PUBMED   922557
REFERENCE   10  (bases 1 to 2800)
  AUTHORS   Davie,E.W. and Fujikawa,K.
  TITLE     Basic mechanisms in blood coagulation
  JOURNAL   Annu Rev Biochem 44, 799-829 (1975)
   PUBMED   237463
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M11309.1, AK292749.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145122,
            SAMEA2155590 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000218099.7/ ENSP00000218099.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC109214.1, M11309.1 and
            AL033403.1.
            On Aug 31, 2019 this sequence version replaced NM_000133.3.
            Summary: This gene encodes vitamin K-dependent coagulation factor
            IX that circulates in the blood as an inactive zymogen. This factor
            is converted to an active form by factor XIa, which excises the
            activation peptide and thus generates a heavy chain and a light
            chain held together by one or more disulfide bonds. The role of
            this activated factor IX in the blood coagulation cascade is to
            activate factor X to its active form through interactions with Ca+2
            ions, membrane phospholipids, and factor VIII. Alterations of this
            gene, including point mutations, insertions and deletions, cause
            factor IX deficiency, which is a recessive X-linked disorder, also
            called hemophilia B or Christmas disease. Alternative splicing
            results in multiple transcript variants encoding different isoforms
            that may undergo similar proteolytic processing. [provided by
            RefSeq, Sep 2015].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2800
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq27.1"
     gene            1..2800
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="coagulation factor IX"
                     /db_xref="GeneID:2158"
                     /db_xref="HGNC:HGNC:3551"
                     /db_xref="MIM:300746"
     CDS             27..1412
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /EC_number="3.4.21.22"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; Christmas factor; plasma thromboplastic
                     component; factor 9; factor IX F9; plasma thromboplastin
                     component"
                     /codon_start=1
                     /product="coagulation factor IX isoform 1 preproprotein"
                     /protein_id="NP_000124.1"
                     /db_xref="CCDS:CCDS14666.1"
                     /db_xref="GeneID:2158"
                     /db_xref="HGNC:HGNC:3551"
                     /db_xref="MIM:300746"
                     /translation="MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPK
                     RYNSGKLEEFVQGNLERECMEEKCSFEEAREVFENTERTTEFWKQYVDGDQCESNPCLN
                     GGSCKDDINSYECWCPFGFEGKNCELDVTCNIKNGRCEQFCKNSADNKVVCSCTEGYRL
                     AENQKSCEPAVPFPCGRVSVSQTSKLTRAETVFPDVDYVNSTEAETILDNITQSTQSFN
                     DFTRVVGGEDAKPGQFPWQVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGE
                     HNIEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKE
                     YTNIFLKFGSGYVSGWGRVFHKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGF
                     HEGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEECAMKGKYGIYTKVSRYVNWIKEKT
                     KLT"
     sig_peptide     27..110
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     165..1409
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /product="Coagulation factor IX. /id=PRO_0000027756"
                     /note="propagated from UniProtKB/Swiss-Prot (P00740.2)"
     mat_peptide     165..599
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /product="Coagulation factor IXa light chain.
                     /id=PRO_0000027757"
                     /note="propagated from UniProtKB/Swiss-Prot (P00740.2)"
     misc_feature    183..185
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P00741,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    186..188
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P00741,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    207..209
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P00741,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    213..215
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P00741,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    222..224
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P00741,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    225..227
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P00741,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    240..242
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P00741,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    243..245
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P00741,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    252..254
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P00741,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    261..263
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P00741,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    270..272
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P00741,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    279..281
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:25456591; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); glycosylation site"
     misc_feature    282..284
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P00741,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    321..323
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="O-linked (Glc...) serine.
                     /evidence=ECO:0000269|PubMed:2129367,
                     ECO:0000269|PubMed:2511201, ECO:0000269|PubMed:25456591.
                     /id=CAR_000009; propagated from UniProtKB/Swiss-Prot
                     (P00740.2); glycosylation site"
     misc_feature    345..347
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="O-linked (Fuc...) serine.
                     /evidence=ECO:0000269|PubMed:1517205,
                     ECO:0000269|PubMed:25456591. /id=CAR_000010; propagated
                     from UniProtKB/Swiss-Prot (P00740.2); glycosylation site"
     misc_feature    354..356
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="(3R)-3-hydroxyaspartate.
                     /evidence=ECO:0000269|PubMed:6688526; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); hydroxylation site"
     misc_feature    366..368
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="Phosphoserine. /evidence=ECO:0000269|Ref.28;
                     propagated from UniProtKB/Swiss-Prot (P00740.2);
                     phosphorylation site"
     misc_feature    597..602
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="Cleavage, by factor XIa; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); cleavage site"
     misc_feature    627..629
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:11133752; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); sulfatation site"
     misc_feature    633..635
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00740.2); glycosylation site"
     misc_feature    636..638
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:11133752,
                     ECO:0000269|PubMed:25456591; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); phosphorylation site"
     misc_feature    639..641
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="O-linked (GalNAc...) threonine, alternate.
                     /evidence=ECO:0000269|PubMed:25456591,
                     ECO:0000269|PubMed:8172892; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); glycosylation site"
     misc_feature    639..641
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="Phosphothreonine, alternate.
                     /evidence=ECO:0000269|PubMed:25456591; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); phosphorylation site"
     misc_feature    663..665
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P00740.2); glycosylation site"
     misc_feature    669..671
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:25456591,
                     ECO:0000269|PubMed:8172892; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); glycosylation site"
     misc_feature    699..701
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:25456591; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); glycosylation site"
     misc_feature    702..707
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="Cleavage, by factor XIa; propagated from
                     UniProtKB/Swiss-Prot (P00740.2); cleavage site"
     mat_peptide     705..1409
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /product="Coagulation factor IXa heavy chain.
                     /id=PRO_0000027759"
                     /note="propagated from UniProtKB/Swiss-Prot (P00740.2)"
     regulatory      2777..2782
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="hexamer: AATAAA"
     polyA_site      2800
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="major polyA site"
ORIGIN
        1 actttcacaa tctgctagca aaggttatgc agcgcgtgaa catgatcatg gcagaatcac
       61 caggcctcat caccatctgc cttttaggat atctactcag tgctgaatgt acagtttttc
      121 ttgatcatga aaacgccaac aaaattctga atcggccaaa gaggtataat tcaggtaaat
      181 tggaagagtt tgttcaaggg aaccttgaga gagaatgtat ggaagaaaag tgtagttttg
      241 aagaagcacg agaagttttt gaaaacactg aaagaacaac tgaattttgg aagcagtatg
      301 ttgatggaga tcagtgtgag tccaatccat gtttaaatgg cggcagttgc aaggatgaca
      361 ttaattccta tgaatgttgg tgtccctttg gatttgaagg aaagaactgt gaattagatg
      421 taacatgtaa cattaagaat ggcagatgcg agcagttttg taaaaatagt gctgataaca
      481 aggtggtttg ctcctgtact gagggatatc gacttgcaga aaaccagaag tcctgtgaac
      541 cagcagtgcc atttccatgt ggaagagttt ctgtttcaca aacttctaag ctcacccgtg
      601 ctgagactgt ttttcctgat gtggactatg taaattctac tgaagctgaa accattttgg
      661 ataacatcac tcaaagcacc caatcattta atgacttcac tcgggttgtt ggtggagaag
      721 atgccaaacc aggtcaattc ccttggcagg ttgttttgaa tggtaaagtt gatgcattct
      781 gtggaggctc tatcgttaat gaaaaatgga ttgtaactgc tgcccactgt gttgaaactg
      841 gtgttaaaat tacagttgtc gcaggtgaac ataatattga ggagacagaa catacagagc
      901 aaaagcgaaa tgtgattcga attattcctc accacaacta caatgcagct attaataagt
      961 acaaccatga cattgccctt ctggaactgg acgaaccctt agtgctaaac agctacgtta
     1021 cacctatttg cattgctgac aaggaataca cgaacatctt cctcaaattt ggatctggct
     1081 atgtaagtgg ctggggaaga gtcttccaca aagggagatc agctttagtt cttcagtacc
     1141 ttagagttcc acttgttgac cgagccacat gtcttcgatc tacaaagttc accatctata
     1201 acaacatgtt ctgtgctggc ttccatgaag gaggtagaga ttcatgtcaa ggagatagtg
     1261 ggggacccca tgttactgaa gtggaaggga ccagtttctt aactggaatt attagctggg
     1321 gtgaagagtg tgcaatgaaa ggcaaatatg gaatatatac caaggtatcc cggtatgtca
     1381 actggattaa ggaaaaaaca aagctcactt aatgaaagat ggatttccaa ggttaattca
     1441 ttggaattga aaattaacag ggcctctcac taactaatca ctttcccatc ttttgttaga
     1501 tttgaatata tacattctat gatcattgct ttttctcttt acaggggaga atttcatatt
     1561 ttacctgagc aaattgatta gaaaatggaa ccactagagg aatataatgt gttaggaaat
     1621 tacagtcatt tctaagggcc cagcccttga caaaattgtg aagttaaatt ctccactctg
     1681 tccatcagat actatggttc tccactatgg caactaactc actcaatttt ccctccttag
     1741 cagcattcca tcttcccgat cttctttgct tctccaacca aaacatcaat gtttattagt
     1801 tctgtataca gtacaggatc tttggtctac tctatcacaa ggccagtacc acactcatga
     1861 agaaagaaca caggagtagc tgagaggcta aaactcatca aaaacactac tccttttcct
     1921 ctaccctatt cctcaatctt ttaccttttc caaatcccaa tccccaaatc agtttttctc
     1981 tttcttactc cctctctccc ttttaccctc catggtcgtt aaaggagaga tggggagcat
     2041 cattctgtta tacttctgta cacagttata catgtctatc aaacccagac ttgcttccgt
     2101 agtggagact tgcttttcag aacataggga tgaagtaagg tgcctgaaaa gtttggggga
     2161 aaagtttctt tcagagagtt aagttatttt atatatataa tatatatata aaatatataa
     2221 tatacaatat aaatatatag tgtgtgtgta tgcgtgtgtg tagacacaca cgcatacaca
     2281 catataatgg aagcaataag ccattctaag agcttgtatg gttatggagg tctgactagg
     2341 catgatttca cgaaggcaag attggcatat cattgtaact aaaaaagctg acattgaccc
     2401 agacatattg tactctttct aaaaataata ataataatgc taacagaaag aagagaaccg
     2461 ttcgtttgca atctacagct agtagagact ttgaggaaga attcaacagt gtgtcttcag
     2521 cagtgttcag agccaagcaa gaagttgaag ttgcctagac cagaggacat aagtatcatg
     2581 tctcctttaa ctagcatacc ccgaagtgga gaagggtgca gcaggctcaa aggcataagt
     2641 cattccaatc agccaactaa gttgtccttt tctggtttcg tgttcaccat ggaacatttt
     2701 gattatagtt aatccttcta tcttgaatct tctagagagt tgctgaccaa ctgacgtatg
     2761 tttccctttg tgaattaata aactggtgtt ctggttcata
//
LOCUS       NM_000134               2226 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens fatty acid binding protein 2 (FABP2), mRNA.
ACCESSION   NM_000134
VERSION     NM_000134.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2226)
  AUTHORS   Zhang Z, Li H, Weng H, Zhou G, Chen H, Yang G, Zhang P, Zhang X, Ji
            Y, Ying K, Liu B, Xu Q, Tang Y, Zhu G, Liu Z, Xia S, Yang X, Dong L,
            Zhu L, Zeng M, Yuan Y, Yang Y, Zhang N, Xu X, Pang W, Zhang M, Zhang
            Y, Zhen K, Wang D, Lei J, Wu S, Shu S, Zhang Y, Zhang S, Gao Q,
            Huang Q, Deng C, Fu X, Chen G, Duan W, Wan J, Xie W, Zhang P, Wang
            S, Yang P, Zuo X, Zhai Z and Wang C.
  CONSRTM   China pUlmonary Thromboembolism REgistry Study (CURES) investigators
  TITLE     Genome-wide association analyses identified novel susceptibility
            loci for pulmonary embolism among Han Chinese population
  JOURNAL   BMC Med 21 (1), 153 (2023)
   PUBMED   37076872
  REMARK    GeneRIF: Genome-wide association analyses identified novel
            susceptibility loci for pulmonary embolism among Han Chinese
            population. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2226)
  AUTHORS   Abo El-Asrar M, Ismail EAR, Elnhrawy AM and Thabet RA.
  TITLE     Fatty acid binding protein 1 (FABP1) and fatty acid binding protein
            2 (FABP2) as a link between diabetic nephropathy and subclinical
            atherosclerosis in children and adolescents with type 1 diabetes
  JOURNAL   J Diabetes Complications 37 (3), 108414 (2023)
   PUBMED   36758511
  REMARK    GeneRIF: Fatty acid binding protein 1 (FABP1) and fatty acid binding
            protein 2 (FABP2) as a link between diabetic nephropathy and
            subclinical atherosclerosis in children and adolescents with type 1
            diabetes.
REFERENCE   3  (bases 1 to 2226)
  AUTHORS   Onuk S, Ozer NT, Ozel M, Sipahioglu H, Kahriman G, Baskol G, Temel
            S, Gundogan K and Akin A.
  TITLE     Gastric ultrasound, citrulline, and intestinal fatty acid-binding
            protein as markers of gastrointestinal dysfunction in critically ill
            patients: A pilot prospective cohort study
  JOURNAL   JPEN J Parenter Enteral Nutr 47 (3), 429-436 (2023)
   PUBMED   36609803
  REMARK    GeneRIF: Gastric ultrasound, citrulline, and intestinal fatty
            acid-binding protein as markers of gastrointestinal dysfunction in
            critically ill patients: A pilot prospective cohort study.
REFERENCE   4  (bases 1 to 2226)
  AUTHORS   Tahapary DL, Fatya AI, Kurniawan F, Marcella C, Rinaldi I, Tarigan
            TJE, Harbuwono DS, Yunir E, Soewondo P and Purnamasari D.
  TITLE     Increased intestinal-fatty acid binding protein in
            obesity-associated type 2 diabetes mellitus
  JOURNAL   PLoS One 18 (1), e0279915 (2023)
   PUBMED   36701395
  REMARK    GeneRIF: Increased intestinal-fatty acid binding protein in
            obesity-associated type 2 diabetes mellitus. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 2226)
  AUTHORS   Zaragoza-Garcia O, Castro-Alarcon N, Perez-Rubio G, Falfan-Valencia
            R, Briceno O, Navarro-Zarza JE, Parra-Rojas I, Tello M and
            Guzman-Guzman IP.
  TITLE     Serum Levels of IFABP2 and Differences in Lactobacillus and
            Porphyromonas gingivalis Abundance on Gut Microbiota Are Associated
            with Poor Therapeutic Response in Rheumatoid Arthritis: A Pilot
            Study
  JOURNAL   Int J Mol Sci 24 (3), 1958 (2023)
   PUBMED   36768285
  REMARK    GeneRIF: Serum Levels of IFABP2 and Differences in Lactobacillus and
            Porphyromonas gingivalis Abundance on Gut Microbiota Are Associated
            with Poor Therapeutic Response in Rheumatoid Arthritis: A Pilot
            Study. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2226)
  AUTHORS   Edwards A, Hammond HA, Jin L, Caskey CT and Chakraborty R.
  TITLE     Genetic variation at five trimeric and tetrameric tandem repeat loci
            in four human population groups
  JOURNAL   Genomics 12 (2), 241-253 (1992)
   PUBMED   1740333
REFERENCE   7  (bases 1 to 2226)
  AUTHORS   Polymeropoulos MH, Rath DS, Xiao H and Merril CR.
  TITLE     Trinucleotide repeat polymorphism at the human intestinal fatty acid
            binding protein gene (FABP2)
  JOURNAL   Nucleic Acids Res 18 (23), 7198 (1990)
   PUBMED   2263509
REFERENCE   8  (bases 1 to 2226)
  AUTHORS   Kaikaus RM, Bass NM and Ockner RK.
  TITLE     Functions of fatty acid binding proteins
  JOURNAL   Experientia 46 (6), 617-630 (1990)
   PUBMED   2193826
  REMARK    Review article
REFERENCE   9  (bases 1 to 2226)
  AUTHORS   Sweetser DA, Birkenmeier EH, Klisak IJ, Zollman S, Sparkes RS,
            Mohandas T, Lusis AJ and Gordon JI.
  TITLE     The human and rodent intestinal fatty acid binding protein genes. A
            comparative analysis of their structure, expression, and linkage
            relationships
  JOURNAL   J Biol Chem 262 (33), 16060-16071 (1987)
   PUBMED   2824476
REFERENCE   10  (bases 1 to 2226)
  AUTHORS   Lowe,J.B., Boguski,M.S., Sweetser,D.A., Elshourbagy,N.A.,
            Taylor,J.M. and Gordon,J.I.
  TITLE     Human liver fatty acid binding protein. Isolation of a full length
            cDNA and comparative sequence analyses of orthologous and paralogous
            proteins
  JOURNAL   J Biol Chem 260 (6), 3413-3417 (1985)
   PUBMED   3838313
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK025079.1, BC069466.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000274024.4/ ENSP00000274024.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC111791.1, BC069466.1 and
            AK025079.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000134.3.
            Summary: The protein encoded by this gene is an intracellular fatty
            acid-binding protein that participates in the uptake, intracellular
            metabolism, and transport of long-chain fatty acids. The encoded
            protein is also involved in the modulation of cell growth and
            proliferation. This protein binds saturated long-chain fatty acids
            with high affinity, and may act as a lipid sensor to maintain
            energy homeostasis. [provided by RefSeq, Aug 2017].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2226
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q26"
     gene            1..2226
                     /gene="FABP2"
                     /gene_synonym="FABPI; I-FABP"
                     /note="fatty acid binding protein 2"
                     /db_xref="GeneID:2169"
                     /db_xref="HGNC:HGNC:3556"
                     /db_xref="MIM:134640"
     CDS             37..435
                     /gene="FABP2"
                     /gene_synonym="FABPI; I-FABP"
                     /note="intestinal-type fatty acid-binding protein; fatty
                     acid binding protein 2, intestinal"
                     /codon_start=1
                     /product="fatty acid-binding protein, intestinal"
                     /protein_id="NP_000125.2"
                     /db_xref="CCDS:CCDS3712.1"
                     /db_xref="GeneID:2169"
                     /db_xref="HGNC:HGNC:3556"
                     /db_xref="MIM:134640"
                     /translation="MAFDSTWKVDRSENYDKFMEKMGVNIVKRKLAAHDNLKLTITQEG
                     NKFTVKESSTFRNIEVVFELGVTFNYNLADGTELRGTWSLEGNKLIGKFKRTDNGNELN
                     TVREIIGDELVQTYVYEGVEAKRIFKKD"
     misc_feature    40..42
                     /gene="FABP2"
                     /gene_synonym="FABPI; I-FABP"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000250|UniProtKB:P02693; propagated from
                     UniProtKB/Swiss-Prot (P12104.2); acetylation site"
     regulatory      675..680
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FABP2"
                     /gene_synonym="FABPI; I-FABP"
                     /note="hexamer: AATAAA"
     polyA_site      701
                     /gene="FABP2"
                     /gene_synonym="FABPI; I-FABP"
                     /note="major polyA site"
     regulatory      2206..2211
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FABP2"
                     /gene_synonym="FABPI; I-FABP"
                     /note="hexamer: TATAAA"
     polyA_site      2226
                     /gene="FABP2"
                     /gene_synonym="FABPI; I-FABP"
ORIGIN
        1 atctctagct gcctagaggc tgactcaact gaaatcatgg cgtttgacag cacttggaag
       61 gtagaccgga gtgaaaacta tgacaagttc atggaaaaaa tgggtgttaa tatagtgaaa
      121 aggaagcttg cagctcatga caatttgaag ctgacaatta cacaagaagg aaataaattc
      181 acagtcaaag aatcaagcac ttttcgaaac attgaagttg tttttgaact tggtgtcacc
      241 tttaattaca atctagcaga cggaactgaa ctcaggggga cctggagcct tgagggaaat
      301 aaacttattg gaaaattcaa acggacagac aatggaaacg aactgaatac tgtccgagaa
      361 attataggtg atgaactagt ccagacttat gtatatgaag gagtagaagc caaaaggatc
      421 tttaaaaagg attgagcatt attcttggcg cacagtccaa aatacaaatt ggacagaaga
      481 tctatattgt accagaacta tttatttcac cccatcaagt ataaggttac tgattgattg
      541 gtccttttat aaacattggt atatttccat tcatgccaaa gcaaaagaag taaaagctaa
      601 ttaggattta atttgtttta tattctctaa gatatatatt tactaaaaga atttgtgaca
      661 ttttaaaaaa caaaaataaa tattgcgtcc atgttgcttt atatgtagcc ttgcctttta
      721 aaagaaaaag tatgtgaata tgaattgaca gactgttttc gtagagagag ggtcttactc
      781 tttcactcag gctggaatgt agtggagaga tcatagctca ctgtaacctc aaactcctgg
      841 actcatgcaa tcttcctgcc tcaggcttct gagtagctag gactatgggt acattccaca
      901 gtgcccagct aatttttgtt ttgttttctt tttatttttt ttagagatgg ggtcttgcta
      961 tattgcccag gctggtcttg aacccctggc ctcaagcaat cctcctgcct cagcctctca
     1021 agttgttttt tttctttaca tttgataaac taaaagcata ggctgcatat gagtctttaa
     1081 catcttgaac tggttgtgaa taattttctg gcactggttg taagtaatat ctattattat
     1141 aaaaataata tatgctcaac cagaaaactt agaaataaga aacacaaatg taaaataagt
     1201 atttccataa ctcataatcc agagataatt gccattctga ttttgataga tatcctctca
     1261 gctctcttcc ctgggggcag atatttccca atacatacca ctttgaatag gatgatagga
     1321 aataaatgat gtactacatt aaattaaatt attgtattac atttttgtac acatcagtca
     1381 ttcccacgct tggctgaaaa tcaggatcat ctgagaaact taaacaattt ctgcattctt
     1441 aatctccact gttattctat tatatcagaa tcgctaatag aaccaagaat tctagaaaat
     1501 ttcctggtga ttctgatgca gcctgtccac taacttgtct ttgagaacaa tggagatatc
     1561 agttatcaat gttattttta accaccccct tcttttttgt tgttgtgggt tttttcacat
     1621 aaacacatac attgccaatt ttccagggct caaaaagttt ccttttattc atattttcac
     1681 atgacgtaaa attttatgtg cttcacataa ttgtatttta gcagggtaca tattagggga
     1741 tggagagggg gtacaatttt taagcatttg cagctgcaac tctatagact tttgacaaat
     1801 tctttttcac actgatgtag ataacagctt aacatttaca tagttcttac tacttgccac
     1861 acactgttct aagtggtata tacatatgac atatatatta aaatgtagga agaaaaatgt
     1921 ttgagtacct gatgaaaatg aatagagagt atgtaatctt tgaaagctga atactgcgtg
     1981 ttctcactta taagtgggag ctaaataatg tatacacatg gacacaccag agtgtagaat
     2041 aatagacact ggagacttgg aagagttgga gggttggcag ggggcgatga taatttactt
     2101 aatgggtaca atgtacatta ttcagggggt gatggttaca gcccagactt taccactatg
     2161 caatatatca atgtaacaaa actatacttg tactccttaa atttatataa aaatacctta
     2221 aatcta
//
LOCUS       NM_000135               5452 bp    mRNA    linear   PRI 12-MAY-2023
DEFINITION  Homo sapiens FA complementation group A (FANCA), transcript variant
            1, mRNA.
ACCESSION   NM_000135
VERSION     NM_000135.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5452)
  AUTHORS   Bertola N, Degan P, Cappelli E and Ravera S.
  TITLE     Mutated FANCA Gene Role in the Modulation of Energy Metabolism and
            Mitochondrial Dynamics in Head and Neck Squamous Cell Carcinoma
  JOURNAL   Cells 11 (15), 2353 (2022)
   PUBMED   35954197
  REMARK    GeneRIF: Mutated FANCA Gene Role in the Modulation of Energy
            Metabolism and Mitochondrial Dynamics in Head and Neck Squamous Cell
            Carcinoma. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5452)
  AUTHORS   Repczynska A, Julga K, Skalska-Sadowska J, Kacprzak MM,
            Bartoszewska-Kubiak A, Lazarczyk E, Loska D, Drozniewska M, Czerska
            K, Wachowiak J and Haus O.
  TITLE     Next-generation sequencing reveals novel variants and large deletion
            in FANCA gene in Polish family with Fanconi anemia
  JOURNAL   Orphanet J Rare Dis 17 (1), 282 (2022)
   PUBMED   35854323
  REMARK    GeneRIF: Next-generation sequencing reveals novel variants and large
            deletion in FANCA gene in Polish family with Fanconi anemia.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5452)
  AUTHORS   Shahid M, Azfaralariff A, Zubair M, Abdulkareem Najm A, Khalili N,
            Law D, Firasat S and Fazry S.
  TITLE     In silico study of missense variants of FANCA, FANCC and FANCG genes
            reveals high risk deleterious alleles predisposing to Fanconi anemia
            pathogenesis
  JOURNAL   Gene 812, 146104 (2022)
   PUBMED   34864095
  REMARK    GeneRIF: In silico study of missense variants of FANCA, FANCC and
            FANCG genes reveals high risk deleterious alleles predisposing to
            Fanconi anemia pathogenesis.
REFERENCE   4  (bases 1 to 5452)
  AUTHORS   Chan KK, Abdul-Sater Z, Sheth A, Mitchell DK, Sharma R, Edwards DM,
            He Y, Nalepa G, Rhodes SD, Clapp DW and Sierra Potchanant EA.
  TITLE     SIK2 kinase synthetic lethality is driven by spindle assembly
            defects in FANCA-deficient cells
  JOURNAL   Mol Oncol 16 (4), 860-884 (2022)
   PUBMED   34058059
  REMARK    GeneRIF: SIK2 kinase synthetic lethality is driven by spindle
            assembly defects in FANCA-deficient cells.
REFERENCE   5  (bases 1 to 5452)
  AUTHORS   Ianzano L, D'Apolito M, Centra M, Savino M, Levran O, Auerbach AD,
            Cleton-Jansen AM, Doggett NA, Pronk JC, Tipping AJ, Gibson RA,
            Mathew CG, Whitmore SA, Apostolou S, Callen DF, Zelante L and Savoia
            A.
  TITLE     The genomic organization of the Fanconi anemia group A (FAA) gene
  JOURNAL   Genomics 41 (3), 309-314 (1997)
   PUBMED   9169126
REFERENCE   6  (bases 1 to 5452)
  AUTHORS   Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M,
            Parker L, Lightfoot J, Carreau M, Callen DF, Savoia A, Cheng NC, van
            Berkel CG, Strunk MH, Gille JJ, Pals G, Kruyt FA, Pronk JC, Arwert
            F, Buchwald M and Joenje H.
  TITLE     Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA
  JOURNAL   Nat Genet 14 (3), 320-323 (1996)
   PUBMED   8896563
  REMARK    Erratum:[Nat Genet. 1996 Dec;14(4):488. PMID: 8944034]
REFERENCE   7  (bases 1 to 5452)
  AUTHORS   Gschwend M, Levran O, Kruglyak L, Ranade K, Verlander PC, Shen S,
            Faure S, Weissenbach J, Altay C, Lander ES, Auerbach AD and Botstein
            D.
  TITLE     A locus for Fanconi anemia on 16q determined by homozygosity mapping
  JOURNAL   Am J Hum Genet 59 (2), 377-384 (1996)
   PUBMED   8755924
REFERENCE   8  (bases 1 to 5452)
  AUTHORS   Pronk JC, Gibson RA, Savoia A, Wijker M, Morgan NV, Melchionda S,
            Ford D, Temtamy S, Ortega JJ, Jansen S et al.
  TITLE     Localisation of the Fanconi anaemia complementation group A gene to
            chromosome 16q24.3
  JOURNAL   Nat Genet 11 (3), 338-340 (1995)
   PUBMED   7581462
REFERENCE   9  (bases 1 to 5452)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview - RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301753
REFERENCE   10  (bases 1 to 5452)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301575
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X99226.1, SRR14038194.2399300.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000389301.8/ ENSP00000373952.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC064540.1, X99226.1,
            AC005567.1 and AC005360.1.
            On Nov 22, 2018 this sequence version replaced NM_000135.3.
            Summary: The Fanconi anemia complementation group (FANC) currently
            includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2,
            FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM
            and FANCN (also called PALB2). The previously defined group FANCH
            is the same as FANCA. Fanconi anemia is a genetically heterogeneous
            recessive disorder characterized by cytogenetic instability,
            hypersensitivity to DNA crosslinking agents, increased chromosomal
            breakage, and defective DNA repair. The members of the Fanconi
            anemia complementation group do not share sequence similarity; they
            are related by their assembly into a common nuclear protein
            complex. This gene encodes the protein for complementation group A.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. Mutations in this gene are the most
            common cause of Fanconi anemia. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5452
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..5452
                     /gene="FANCA"
                     /gene_synonym="FA; FA-H; FA1; FAA; FACA; FAH; FANCH"
                     /note="FA complementation group A"
                     /db_xref="GeneID:2175"
                     /db_xref="HGNC:HGNC:3582"
                     /db_xref="MIM:607139"
     CDS             33..4400
                     /gene="FANCA"
                     /gene_synonym="FA; FA-H; FA1; FAA; FACA; FAH; FANCH"
                     /note="isoform a is encoded by transcript variant 1;
                     Fanconi anemia, complementation group H; Fanconi anemia,
                     type 1; fanconi anemia group A protein; Fanconi anemia
                     complementation group A"
                     /codon_start=1
                     /product="Fanconi anemia group A protein isoform a"
                     /protein_id="NP_000126.2"
                     /db_xref="CCDS:CCDS32515.1"
                     /db_xref="GeneID:2175"
                     /db_xref="HGNC:HGNC:3582"
                     /db_xref="MIM:607139"
                     /translation="MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKE
                     SAVRLLRSHQDLNALLLEVEGPLCKKLSLSKVIDCDSSEAYANHSSSFIGSALQDQASR
                     LGVPVGILSAGMVASSVGQICTAPAETSHPVLLTVEQRKKLSSLLEFAQYLLAHSMFSR
                     LSFCQELWKIQSSLLLEAVWHLHVQGIVSLQELLESHPDMHAVGSWLFRNLCCLCEQME
                     ASCQHADVARAMLSDFVQMFVLRGFQKNSDLRRTVEPEKMPQVTVDVLQRMLIFALDAL
                     AAGVQEESSTHKIVRCWFGVFSGHTLGSVISTDPLKRFFSHTLTQILTHSPVLKASDAV
                     QMQREWSFARTHPLLTSLYRRLFVMLSAEELVGHLQEVLETQEVHWQRVLSFVSALVVC
                     FPEAQQLLEDWVARLMAQAFESCQLDSMVTAFLVVRQAALEGPSAFLSYADWFKASFGS
                     TRGYHGCSKKALVFLFTFLSELVPFESPRYLQVHILHPPLVPGKYRSLLTDYISLAKTR
                     LADLKVSIENMGLYEDLSSAGDITEPHSQALQDVEKAIMVFEHTGNIPVTVMEASIFRR
                     PYYVSHFLPALLTPRVLPKVPDSRVAFIESLKRADKIPPSLYSTYCQACSAAEEKPEDA
                     ALGVRAEPNSAEEPLGQLTAALGELRASMTDPSQRDVISAQVAVISERLRAVLGHNEDD
                     SSVEISKIQLSINTPRLEPREHMAVDLLLTSFCQNLMAASSVAPPERQGPWAALFVRTM
                     CGRVLPAVLTRLCQLLRHQGPSLSAPHVLGLAALAVHLGESRSALPEVDVGPPAPGAGL
                     PVPALFDSLLTCRTRDSLFFCLKFCTAAISYSLCKFSSQSRDTLCSCLSPGLIKKFQFL
                     MFRLFSEARQPLSEEDVASLSWRPLHLPSADWQRAALSLWTHRTFREVLKEEDVHLTYQ
                     DWLHLELEIQPEADALSDTERQDFHQWAIHEHFLPESSASGGCDGDLQAACTILVNALM
                     DFHQSSRSYDHSENSDLVFGGRTGNEDIISRLQEMVADLELQQDLIVPLGHTPSQEHFL
                     FEIFRRRLQALTSGWSVAASLQRQRELLMYKRILLRLPSSVLCGSSFQAEQPITARCEQ
                     FFHLVNSEMRNFCSHGGALTQDITAHFFRGLLNACLRSRDPSLMVDFILAKCQTKCPLI
                     LTSALVWWPSLEPVLLCRWRRHCQSPLPRELQKLQEGRQFASDFLSPEAASPAPNPDWL
                     SAAALHFAIQQVREENIRKQLKKLDCEREELLVFLFFFSLMGLLSSHLTSNSTTDLPKA
                     FHVCAAILECLEKRKISWLALFQLTESDLRLGRLLLRVAPDQHTRLLPFAFYSLLSYFH
                     EDAAIREEAFLHVAVDMYLKLVQLFVAGDTSTVSPPAGRSLELKGQGNPVELITKARLF
                     LLQLIPRCPKKSFSHVAELLADRGDCDPEVSAALQSRQQAAPDADLSQEPHLF"
     misc_feature    84..134
                     /gene="FANCA"
                     /gene_synonym="FA; FA-H; FA1; FAA; FACA; FAH; FANCH"
                     /note="propagated from UniProtKB/Swiss-Prot (O15360.2);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     misc_feature    4377..4379
                     /gene="FANCA"
                     /gene_synonym="FA; FA-H; FA1; FAA; FACA; FAH; FANCH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O15360.2);
                     phosphorylation site"
     regulatory      4447..4452
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCA"
                     /gene_synonym="FA; FA-H; FA1; FAA; FACA; FAH; FANCH"
                     /note="hexamer: ATTACA"
     regulatory      4477..4482
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCA"
                     /gene_synonym="FA; FA-H; FA1; FAA; FACA; FAH; FANCH"
                     /note="hexamer: ACTAAA"
     polyA_site      4484
                     /gene="FANCA"
                     /gene_synonym="FA; FA-H; FA1; FAA; FACA; FAH; FANCH"
                     /note="major polyA site"
     polyA_site      4496
                     /gene="FANCA"
                     /gene_synonym="FA; FA-H; FA1; FAA; FACA; FAH; FANCH"
                     /note="major polyA site"
     regulatory      4577..4582
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCA"
                     /gene_synonym="FA; FA-H; FA1; FAA; FACA; FAH; FANCH"
                     /note="hexamer: AATAAA"
     polyA_site      4596
                     /gene="FANCA"
                     /gene_synonym="FA; FA-H; FA1; FAA; FACA; FAH; FANCH"
     regulatory      5425..5430
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCA"
                     /gene_synonym="FA; FA-H; FA1; FAA; FACA; FAH; FANCH"
                     /note="hexamer: AAGAAA"
     polyA_site      5452
                     /gene="FANCA"
                     /gene_synonym="FA; FA-H; FA1; FAA; FACA; FAH; FANCH"
ORIGIN
        1 gagccgccgc cggggctgta ggcgccaagg ccatgtccga ctcgtgggtc ccgaactccg
       61 cctcgggcca ggacccaggg ggccgccgga gggcctgggc cgagctgctg gcgggaaggg
      121 tcaagaggga aaaatataat cctgaaaggg cacagaaatt aaaggaatca gctgtgcgcc
      181 tcctgcgaag ccatcaggac ctgaatgccc ttttgcttga ggtagaaggt ccactgtgta
      241 aaaaattgtc tctcagcaaa gtgattgact gtgacagttc tgaggcctat gctaatcatt
      301 ctagttcatt tataggctct gctttgcagg atcaagcctc aaggctgggg gttcccgtgg
      361 gtattctctc agccgggatg gttgcctcta gcgtgggaca gatctgcacg gctccagcgg
      421 agaccagtca ccctgtgctg ctgactgtgg agcagagaaa gaagctgtct tccctgttag
      481 agtttgctca gtatttattg gcacacagta tgttctcccg tctttccttc tgtcaagaat
      541 tatggaaaat acagagttct ttgttgcttg aagcggtgtg gcatcttcac gtacaaggca
      601 ttgtgagcct gcaagagctg ctggaaagcc atcccgacat gcatgctgtg ggatcgtggc
      661 tcttcaggaa tctgtgctgc ctttgtgaac agatggaagc atcctgccag catgctgacg
      721 tcgccagggc catgctttct gattttgttc aaatgtttgt tttgagggga tttcagaaaa
      781 actcagatct gagaagaact gtggagcctg aaaaaatgcc gcaggtcacg gttgatgtac
      841 tgcagagaat gctgattttt gcacttgacg ctttggctgc tggagtacag gaggagtcct
      901 ccactcacaa gatcgtgagg tgctggttcg gagtgttcag tggacacacg cttggcagtg
      961 taatttccac agatcctctg aagaggttct tcagtcatac cctgactcag atactcactc
     1021 acagccctgt gctgaaagca tctgatgctg ttcagatgca gagagagtgg agctttgcgc
     1081 ggacacaccc tctgctcacc tcactgtacc gcaggctctt tgtgatgctg agtgcagagg
     1141 agttggttgg ccatttgcaa gaagttctgg aaacgcagga ggttcactgg cagagagtgc
     1201 tctcctttgt gtctgccctg gttgtctgct ttccagaagc gcagcagctg cttgaagact
     1261 gggtggcgcg tttgatggcc caggcattcg agagctgcca gctggacagc atggtcactg
     1321 cgttcctggt tgtgcgccag gcagcactgg agggcccctc tgcgttcctg tcatatgcag
     1381 actggttcaa ggcctccttt gggagcacac gaggctacca tggctgcagc aagaaggccc
     1441 tggtcttcct gtttacgttc ttgtcagaac tcgtgccttt tgagtctccc cggtacctgc
     1501 aggtgcacat tctccaccca cccctggttc ccggcaagta ccgctccctc ctcacagact
     1561 acatctcatt ggccaagaca cggctggccg acctcaaggt ttctatagaa aacatgggac
     1621 tctacgagga tttgtcatca gctggggaca ttactgagcc ccacagccaa gctcttcagg
     1681 atgttgaaaa ggccatcatg gtgtttgagc atacggggaa catcccagtc accgtcatgg
     1741 aggccagcat attcaggagg ccttactacg tgtcccactt cctccccgcc ctgctcacac
     1801 ctcgagtgct ccccaaagtc cctgactccc gtgtggcgtt tatagagtct ctgaagagag
     1861 cagataaaat ccccccatct ctgtactcca cctactgcca ggcctgctct gctgctgaag
     1921 agaagccaga agatgcagcc ctgggagtga gggcagaacc caactctgct gaggagcccc
     1981 tgggacagct cacagctgca ctgggagagc tgagagcctc catgacagac cccagccagc
     2041 gtgatgttat atcggcacag gtggcagtga tttctgaaag actgagggct gtcctgggcc
     2101 acaatgagga tgacagcagc gttgagatat caaagattca gctcagcatc aacacgccga
     2161 gactggagcc acgggaacac atggctgtgg acctcctgct gacgtctttc tgtcagaacc
     2221 tgatggctgc ctccagtgtc gctcccccgg agaggcaggg tccctgggct gccctcttcg
     2281 tgaggaccat gtgtggacgt gtgctccctg cagtgctcac ccggctctgc cagctgctcc
     2341 gtcaccaggg cccgagcctg agtgccccac atgtgctggg gttggctgcc ctggccgtgc
     2401 acctgggtga gtccaggtct gcgctcccag aggtggatgt gggtcctcct gcacctggtg
     2461 ctggccttcc tgtccctgcg ctctttgaca gcctcctgac ctgtaggacg agggattcct
     2521 tgttcttctg cctgaaattt tgtacagcag caatttctta ctctctctgc aagttttctt
     2581 cccagtcacg agatactttg tgcagctgct tatctccagg ccttattaaa aagtttcagt
     2641 tcctcatgtt cagattgttc tcagaggccc gacagcctct ttctgaggag gacgtagcca
     2701 gcctttcctg gagacccttg caccttcctt ctgcagactg gcagagagct gccctctctc
     2761 tctggacaca cagaaccttc cgagaggtgt tgaaagagga agatgttcac ttaacttacc
     2821 aagactggtt acacctggag ctggaaattc aacctgaagc tgatgctctt tcagatactg
     2881 aacggcagga cttccaccag tgggcgatcc atgagcactt tctccctgag tcctcggctt
     2941 cagggggctg tgacggagac ctgcaggctg cgtgtaccat tcttgtcaac gcactgatgg
     3001 atttccacca aagctcaagg agttatgacc actcagaaaa ttctgatttg gtctttggtg
     3061 gccgcacagg aaatgaggat attatttcca gattgcagga gatggtagct gacctggagc
     3121 tgcagcaaga cctcatagtg cctctcggcc acaccccttc ccaggagcac ttcctctttg
     3181 agattttccg cagacggctc caggctctga caagcgggtg gagcgtggct gccagccttc
     3241 agagacagag ggagctgcta atgtacaaac ggatcctcct ccgcctgcct tcgtctgtcc
     3301 tctgcggcag cagcttccag gcagaacagc ccatcactgc cagatgcgag cagttcttcc
     3361 acttggtcaa ctctgagatg agaaacttct gctcccacgg aggtgccctg acacaggaca
     3421 tcactgccca cttcttcagg ggcctcctga acgcctgtct gcggagcaga gacccctccc
     3481 tgatggtcga cttcatactg gccaagtgcc agacgaaatg ccccttaatt ttgacctctg
     3541 ctctggtgtg gtggccgagc ctggagcctg tgctgctctg ccggtggagg agacactgcc
     3601 agagcccgct gccccgggaa ctgcagaagc tacaagaagg ccggcagttt gccagcgatt
     3661 tcctctcccc tgaggctgcc tccccagcac ccaacccgga ctggctctca gctgctgcac
     3721 tgcactttgc gattcaacaa gtcagggaag aaaacatcag gaagcagcta aagaagctgg
     3781 actgcgagag agaggagcta ttggttttcc ttttcttctt ctccttgatg ggcctgctgt
     3841 cgtcacatct gacctcaaat agcaccacag acctgccaaa ggctttccac gtttgtgcag
     3901 caatcctcga gtgtttagag aagaggaaga tatcctggct ggcactcttt cagttgacag
     3961 agagtgacct caggctgggg cggctcctcc tccgtgtggc cccggatcag cacaccaggc
     4021 tgctgccttt cgctttttac agtcttctct cctacttcca tgaagacgcg gccatcaggg
     4081 aagaggcctt cctgcatgtt gctgtggaca tgtacttgaa gctggtccag ctcttcgtgg
     4141 ctggggatac aagcacagtt tcacctccag ctggcaggag cctggagctc aagggtcagg
     4201 gcaaccccgt ggaactgata acaaaagctc gtctttttct gctgcagtta atacctcggt
     4261 gcccgaaaaa gagcttctca cacgtggcag agctgctggc tgatcgtggg gactgcgacc
     4321 cagaggtgag cgccgccctc cagagcagac agcaggctgc ccctgacgct gacctgtccc
     4381 aggagcctca tctcttctga cgggacctgc cactgcacac cagcccagct cccgtgtaaa
     4441 taatttatta caagcataac atggagctct tgttgcacta aaaagtggat tacaaatctc
     4501 ctcgactgct ttagtgggga aaggaatcaa ttatttatga actgtccggc cccgagtcac
     4561 tcagcgtttg cgggaaaata aaccactggt cccagagcag aggaaggcta cttgagccgg
     4621 acaccaagcc cgcctccagc accaagggcg ggcagcaccc tccgaccctc ccatgcgggt
     4681 gcacacgaag ggtgaggctg acacagccac tgcggagtcc aggctgctag aggtgctcat
     4741 cctcactgcc gtcctcaggt gggttcgggc ttcaccgcct ggccctctgt ggtcacagag
     4801 gggctcggtg gcccaggtgg tggttccgcc tccaggggca gggccttgtc ctgggtctgt
     4861 gtcagcgggt gcaccatgga catgtgtaca ttgaggttgt gggccttctc aaaccgccgg
     4921 ccacactggt cacaggcaaa gtccagctca gtctcagcct tgtgtttggt catgtggtac
     4981 ttgagggatg cccgctgcct gcactggaac ccacagacct cacacctggg ggacagaggc
     5041 agataagaag gtgcgagggc cacagccctg ggagggggtc ctgactcaca cttactgcaa
     5101 aggcttggct cccgaatgtc gcatttggtg gacgagaagg tgcttccgct gcttgaaggt
     5161 ttgtccacat tcgtcacaga tatagttccg cacctctgag aggggagagt ccagtgagtc
     5221 caggcccctg atgctccaac ctcccggggg gacgacgatg acaatgtgaa accatcacag
     5281 ctgggaagac atttctgcac atggttcacc atgcagtggg cccaagcaag gggcctatga
     5341 gggcctcgtt tattaagatc tttaaactgc tttatacact gtcacgtggc ttcatcagct
     5401 gtgtgcattt caggatggtt tttaaagaaa cctcagaaag ctatttcctt aa
//
LOCUS       NM_000136               4592 bp    mRNA    linear   PRI 15-MAY-2023
DEFINITION  Homo sapiens FA complementation group C (FANCC), transcript variant
            1, mRNA.
ACCESSION   NM_000136
VERSION     NM_000136.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4592)
  AUTHORS   Shahid M, Azfaralariff A, Zubair M, Abdulkareem Najm A, Khalili N,
            Law D, Firasat S and Fazry S.
  TITLE     In silico study of missense variants of FANCA, FANCC and FANCG genes
            reveals high risk deleterious alleles predisposing to Fanconi anemia
            pathogenesis
  JOURNAL   Gene 812, 146104 (2022)
   PUBMED   34864095
  REMARK    GeneRIF: In silico study of missense variants of FANCA, FANCC and
            FANCG genes reveals high risk deleterious alleles predisposing to
            Fanconi anemia pathogenesis.
REFERENCE   2  (bases 1 to 4592)
  AUTHORS   Ewing AD, Cheetham SW, McGill JJ, Sharkey M, Walker R, West JA, West
            MJ and Summers KM.
  TITLE     Microdeletion of 9q22.3: A patient with minimal deletion size
            associated with a severe phenotype
  JOURNAL   Am J Med Genet A 185 (7), 2070-2083 (2021)
   PUBMED   33960642
  REMARK    GeneRIF: Microdeletion of 9q22.3: A patient with minimal deletion
            size associated with a severe phenotype.
REFERENCE   3  (bases 1 to 4592)
  AUTHORS   Tiwari SK, Dang JW, Lin N, Qin Y, Wang S and Rana TM.
  TITLE     Zika virus depletes neural stem cells and evades selective autophagy
            by suppressing the Fanconi anemia protein FANCC
  JOURNAL   EMBO Rep 21 (12), e49183 (2020)
   PUBMED   33073500
  REMARK    GeneRIF: Zika virus depletes neural stem cells and evades selective
            autophagy by suppressing the Fanconi anemia protein FANCC.
REFERENCE   4  (bases 1 to 4592)
  AUTHORS   Dork T, Peterlongo P, Mannermaa A, Bolla MK, Wang Q, Dennis J,
            Ahearn T, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ,
            Augustinsson A, Freeman LEB, Beckmann MW, Beeghly-Fadiel A, Behrens
            S, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Brauch H,
            Brenner H, Burwinkel B, Canzian F, Chan TL, Chang-Claude J, Chanock
            SJ, Choi JY, Christiansen H, Clarke CL, Couch FJ, Czene K, Daly MB,
            Dos-Santos-Silva I, Dwek M, Eccles DM, Ekici AB, Eriksson M, Evans
            DG, Fasching PA, Figueroa J, Flyger H, Fritschi L, Gabrielson M,
            Gago-Dominguez M, Gao C, Gapstur SM, Garcia-Closas M, Garcia-Saenz
            JA, Gaudet MM, Giles GG, Goldberg MS, Goldgar DE, Guenel P, Haeberle
            L, Haiman CA, Hakansson N, Hall P, Hamann U, Hartman M, Hauke J,
            Hein A, Hillemanns P, Hogervorst FBL, Hooning MJ, Hopper JL, Howell
            T, Huo D, Ito H, Iwasaki M, Jakubowska A, Janni W, John EM, Jung A,
            Kaaks R, Kang D, Kapoor PM, Khusnutdinova E, Kim SW, Kitahara CM,
            Koutros S, Kraft P, Kristensen VN, Kwong A, Lambrechts D, Marchand
            LL, Li J, Lindstrom S, Linet M, Lo WY, Long J, Lophatananon A,
            Lubinski J, Manoochehri M, Manoukian S, Margolin S, Martinez E,
            Matsuo K, Mavroudis D, Meindl A, Menon U, Milne RL, Mohd Taib NA,
            Muir K, Mulligan AM, Neuhausen SL, Nevanlinna H, Neven P, Newman WG,
            Offit K, Olopade OI, Olshan AF, Olson JE, Olsson H, Park SK,
            Park-Simon TW, Peto J, Plaseska-Karanfilska D, Pohl-Rescigno E,
            Presneau N, Rack B, Radice P, Rashid MU, Rennert G, Rennert HS,
            Romero A, Ruebner M, Saloustros E, Schmidt MK, Schmutzler RK,
            Schneider MO, Schoemaker MJ, Scott C, Shen CY, Shu XO, Simard J,
            Slager S, Smichkoska S, Southey MC, Spinelli JJ, Stone J, Surowy H,
            Swerdlow AJ, Tamimi RM, Tapper WJ, Teo SH, Terry MB, Toland AE,
            Tollenaar RAEM, Torres D, Torres-Mejia G, Troester MA, Truong T,
            Tsugane S, Untch M, Vachon CM, Ouweland AMWVD, Veen EMV, Vijai J,
            Wendt C, Wolk A, Yu JC, Zheng W, Ziogas A, Ziv E, Dunning AM,
            Pharoah PDP, Schindler D, Devilee P and Easton DF.
  CONSRTM   ABCTB Investigators; NBCS Collaborators
  TITLE     Two truncating variants in FANCC and breast cancer risk
  JOURNAL   Sci Rep 9 (1), 12524 (2019)
   PUBMED   31467304
  REMARK    GeneRIF: Two truncating variants in FANCC and breast cancer risk.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4592)
  AUTHORS   Muller,E. II and Hudgins,L.
  TITLE     9q22.3 Microdeletion - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   21850767
REFERENCE   6  (bases 1 to 4592)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview - RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301753
REFERENCE   7  (bases 1 to 4592)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301575
REFERENCE   8  (bases 1 to 4592)
  AUTHORS   Strathdee,C.A., Gavish,H., Shannon,W.R. and Buchwald,M.
  TITLE     Cloning of cDNAs for Fanconi's anaemia by functional complementation
  JOURNAL   Nature 358 (6385), 434 (1992)
   PUBMED   1641028
  REMARK    Correction to:[Nature. 1992 Apr 30;356(6372):763-7. PMID: 1574115]
REFERENCE   9  (bases 1 to 4592)
  AUTHORS   Strathdee CA, Duncan AM and Buchwald M.
  TITLE     Evidence for at least four Fanconi anaemia genes including FACC on
            chromosome 9
  JOURNAL   Nat Genet 1 (3), 196-198 (1992)
   PUBMED   1303234
REFERENCE   10  (bases 1 to 4592)
  AUTHORS   Strathdee CA, Gavish H, Shannon WR and Buchwald M.
  TITLE     Cloning of cDNAs for Fanconi's anaemia by functional complementation
  JOURNAL   Nature 356 (6372), 763-767 (1992)
   PUBMED   1574115
  REMARK    Erratum:[Nature. 1992 Jul 30;358(6385):434. PMID: 1641028]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC015748.1, X66893.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000289081.8/ ENSP00000289081.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU132608.1, BC015748.1 and
            CB052780.1.
            On May 17, 2019 this sequence version replaced NM_000136.2.
            Summary: The Fanconi anemia complementation group (FANC) currently
            includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2,
            FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM
            and FANCN (also called PALB2). The previously defined group FANCH
            is the same as FANCA. Fanconi anemia is a genetically heterogeneous
            recessive disorder characterized by cytogenetic instability,
            hypersensitivity to DNA crosslinking agents, increased chromosomal
            breakage, and defective DNA repair. The members of the Fanconi
            anemia complementation group do not share sequence similarity; they
            are related by their assembly into a common nuclear protein
            complex. This gene encodes the protein for complementation group C.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4592
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.32"
     gene            1..4592
                     /gene="FANCC"
                     /gene_synonym="FA3; FAC; FACC"
                     /note="FA complementation group C"
                     /db_xref="GeneID:2176"
                     /db_xref="HGNC:HGNC:3584"
                     /db_xref="MIM:613899"
     misc_feature    188..190
                     /gene="FANCC"
                     /gene_synonym="FA3; FAC; FACC"
                     /note="upstream in-frame stop codon"
     CDS             263..1939
                     /gene="FANCC"
                     /gene_synonym="FA3; FAC; FACC"
                     /note="isoform a is encoded by transcript variant 1;
                     Fanconi anemia group C protein; Fanconi anemia
                     complementation group C"
                     /codon_start=1
                     /product="Fanconi anemia group C protein isoform a"
                     /protein_id="NP_000127.2"
                     /db_xref="CCDS:CCDS35071.1"
                     /db_xref="GeneID:2176"
                     /db_xref="HGNC:HGNC:3584"
                     /db_xref="MIM:613899"
                     /translation="MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFL
                     RKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFILAYDESQKILIWCLCCLINKEPQN
                     SGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASELRE
                     NHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEA
                     VNEAILLKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSL
                     PQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTY
                     FPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIH
                     FGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSR
                     SSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAE
                     ITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLKELRTQV"
     polyA_site      3159
                     /gene="FANCC"
                     /gene_synonym="FA3; FAC; FACC"
                     /note="major polyA site"
     regulatory      4569..4574
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCC"
                     /gene_synonym="FA3; FAC; FACC"
                     /note="hexamer: AATAAA"
     polyA_site      4592
                     /gene="FANCC"
                     /gene_synonym="FA3; FAC; FACC"
                     /note="major polyA site"
ORIGIN
        1 agaatgcact gctgacacgt gtgcgcgcgc gcggctccac tgccgggcga ccgcgggaaa
       61 attccaaaaa aactcaaaaa gccaatacga ggcaaagcca aattttcaag ccacagatcc
      121 cgggcggtgg cttcctttcc gccactgccc aaactgctga agcagctccc gcgaggacca
      181 cccgatttaa tgtgtgccga ccatttcctt cagtgctgga caggctgctg tgaagggaca
      241 tcaccttttc gctttttcca agatggctca agattcagta gatctttctt gtgattatca
      301 gttttggatg cagaagcttt ctgtatggga tcaggcttcc actttggaaa cccagcaaga
      361 cacctgtctt cacgtggctc agttccagga gttcctaagg aagatgtatg aagccttgaa
      421 agagatggat tctaatacag tcattgaaag attccccaca attggtcaac tgttggcaaa
      481 agcttgttgg aatcctttta ttttagcata tgatgaaagc caaaaaattc taatatggtg
      541 cttatgttgt ctaattaaca aagaaccaca gaattctgga caatcaaaac ttaactcctg
      601 gatacagggt gtattatctc atatactttc agcactcaga tttgataaag aagttgctct
      661 tttcactcaa ggtcttgggt atgcacctat agattactat cctggtttgc ttaaaaatat
      721 ggttttatca ttagcgtctg aactcagaga gaatcatctt aatggattta acactcaaag
      781 gcgaatggct cccgagcgag tggcgtccct gtcacgagtt tgtgtcccac ttattaccct
      841 gacagatgtt gaccccctgg tggaggctct cctcatctgt catggacgtg aacctcagga
      901 aatcctccag ccagagttct ttgaggctgt aaacgaggcc attttgctga agaagatttc
      961 tctccccatg tcagctgtag tctgcctctg gcttcggcac cttcccagcc ttgaaaaagc
     1021 aatgctgcat ctttttgaaa agctaatctc cagtgagaga aattgtctga gaaggatcga
     1081 atgctttata aaagattcat cgctgcctca agcagcctgc caccctgcca tattccgggt
     1141 tgttgatgag atgttcaggt gtgcactcct ggaaaccgat ggggccctgg aaatcatagc
     1201 cactattcag gtgtttacgc agtgctttgt agaagctctg gagaaagcaa gcaagcagct
     1261 gcggtttgca ctcaagacct actttcctta cacttctcca tctcttgcca tggtgctgct
     1321 gcaagaccct caagatatcc ctcggggaca ctggctccag acactgaagc atatttctga
     1381 actgctcaga gaagcagttg aagaccagac tcatgggtcc tgcggaggtc cctttgagag
     1441 ctggttcctg ttcattcact tcggaggatg ggctgagatg gtggcagagc aattactgat
     1501 gtcggcagcc gaacccccca cggccctgct gtggctcttg gccttctact acggcccccg
     1561 tgatgggagg cagcagagag cacagactat ggtccaggtg aaggccgtgc tgggccacct
     1621 cctggcaatg tccagaagca gcagcctctc agcccaggac ctgcagacgg tagcaggaca
     1681 gggcacagac acagacctca gagctcctgc acaacagctg atcaggcacc ttctcctcaa
     1741 cttcctgctc tgggctcctg gaggccacac gatcgcctgg gatgtcatca ccctgatggc
     1801 tcacactgct gagataactc acgagatcat tggctttctt gaccagacct tgtacagatg
     1861 gaatcgtctt ggcattgaaa gccctagatc agaaaaactg gcccgagagc tccttaaaga
     1921 gctgcgaact caagtctaga aggcacgcag gccgtgtggg tgcccggcgt gagggatcag
     1981 gctcgccagg gccacaggac aggtgatgac ctgtggccac gcatttgtgg agtaagtgcc
     2041 ctcgctgggc tgtgagaatg agctgtacac atcttgggac aatctgctag tatctatttt
     2101 acaaaatgca gagccaggtc cctcagccca gactcagtca gacatgttca ctaatgactc
     2161 aagtgagcct tcggtactcc tggtgcccgc ccggccagac cgtcagcttg ataattacta
     2221 aagcaaaggc ctgggtggga gaacaggttt ctagttttta cccaagtcaa gctgcacatc
     2281 tattatttaa aaattcaaag tcttagaacc aagaatttgg tcatgaacca ttaaagaatt
     2341 tagagagaac ttagctcttt ttagactctt tttaggagtc agggatctgg gataaagcca
     2401 cactgtcttg ctgtatggag aaattcttca aggggagtca gggtccctca ggcttccctt
     2461 gtgtctccct ggacctgcct gacaggccac aggagcagac agcacaccca agcccgggcc
     2521 tccggcacac tctttccact ctgtatttgc taaatgatgc taactgctac caaaaggccc
     2581 ttgggacatc agaggagccg gcaggcgaag gtagaggatg tgttccagaa acattagaag
     2641 gcaggattaa ttcagttagt tagttctctt gttaaatgga aatgggaatt ggaaattcct
     2701 gataaagaat tggcctggct gggtgcagtg gctcacacct gtgatcccag cactttggga
     2761 ggccaaggca gggggattac ttcagcccag gagttccaga ctgcctggct aacatggcaa
     2821 taccctatct ctactaaaaa tacaaaaatt atcggggtgc aatggcatgc atctgtaatc
     2881 ccagctattc aagaggctga ggcatgagga tctcttgaac ccgggaggtg ggagttgtag
     2941 tgagccgaga tcatgacact gcactccagc ctgggcaaca gagcgagacc atctcttaaa
     3001 aaaaggcatt gttagtgtaa tctcaaggtt aacatttatt tcatgtcagt acagggtgct
     3061 ttttcctttc agggacattc tggaattgta ttggttgtac attcttttgt gtctattctg
     3121 tttgtcaagt gagtcaagac ttgcttttgt ccattttgat ttgtgtgtat tagtctgagt
     3181 cttggctccg ttttgaggta tgagcaaagt tttgctggat tagaagttaa cctttaggga
     3241 aattccttat tttggtatgt ggcaatgcta atagatccac tgaagatctg gaaaattcca
     3301 ggaacttttc acctgagcct ttcttctgag aaatgctgca gtcagaaggg tgtgctggta
     3361 aagtattttg gtggcagctg ccatcatggt cattgccttc atataacatg cttcgtgctc
     3421 atggtcattg ccttcatata acatgcttcg tgccatcatg atccttgcct tcatataaca
     3481 aacatgcttc gtcagaggtg ttggggttga aaaaggagct gcatgcttca ctggagttga
     3541 gggcctctct cctgttctga ctttaagcca gaacttgtgg ctgggccatg gaagctgtga
     3601 ctcctctgtg gacatggtgg cagcagggaa cccctagaga gaggggccac tgggaccagg
     3661 cctcctgttg tggagggact cctgggacag tcctccaccc tgtcctgtgg tcctgtgtac
     3721 agggttggcc tcttcctcct cccctgccag gcctctgccc atgccccttc cttccttctc
     3781 ctgggactgg tgaagctagg catctggaag acttcttcct agcctggaag ccctgacctc
     3841 ggcccatctg cagaatctcc cagttccttc acagctgccg agtcctctca cgggtgcggt
     3901 ggaggcggcc ttgccggtgg tgctttctgg gcagccaggg gttcctgggt gggaggactg
     3961 tccctctggg gacgtggcac tgaagtgcct gctggcttca tgtggccctt tgccctttcc
     4021 cagcctgaga gatgctcaaa ggtggggagc tgggggagcc acccctcggc cattccctcc
     4081 acctccaaga caggtggcgg ccgggcaggc actcttaagc ccacctcccc ctcttgttgc
     4141 cttcgatttc ggcaaagcct gggcaggtgc caccgggaag gaatggcatc cgagatgctg
     4201 ggcggggacg cggcgtggcc gagggggcct tgacggcgtt ggcggggcct gggcacaggg
     4261 gcagccgcag ggaggcaggg atggcaaggc gtgaagccac cctggaagga actggaccaa
     4321 ggtcttcaga ggtgcgacag ggtctggaat ctgaccttac tctagcagga gtttttgtag
     4381 actctccctg atagtttagt ttttgataaa gcatgctggt aaaaccacta ccctcagaga
     4441 gagccaaaaa tacagaagag gcggagagcg cccctccaac caggctgtta ttcccctgga
     4501 ctccgtgaca tctgtggaat tttttagctc tttaaaatct gtaatttgtt gtctattttt
     4561 tcattctaaa taaaacttca gtttgcacct aa
//
LOCUS       NM_000137               1456 bp    mRNA    linear   PRI 23-MAY-2023
DEFINITION  Homo sapiens fumarylacetoacetate hydrolase (FAH), transcript variant
            2, mRNA.
ACCESSION   NM_000137
VERSION     NM_000137.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1456)
  AUTHORS   Chi H, Gan C, Jiang Y, Chen D, Qiu J, Yang Q, Chen Y, Wang M, Yang
            H, Jiang W and Li Q.
  TITLE     The compound heterozygous mutations of c.607G>a and c.657delC in the
            FAH gene are associated with renal damage with hereditary
            tyrosinemia type 1 (HT1)
  JOURNAL   Mol Genet Genomic Med 11 (1), e2090 (2023)
   PUBMED   36369907
  REMARK    GeneRIF: The compound heterozygous mutations of c.607G>a and
            c.657delC in the FAH gene are associated with renal damage with
            hereditary tyrosinemia type 1 (HT1).
REFERENCE   2  (bases 1 to 1456)
  AUTHORS   Larson EL, Joo DJ, Nelson ED, Amiot BP, Aravalli RN and Nyberg SL.
  TITLE     Fumarylacetoacetate hydrolase gene as a knockout target for hepatic
            chimerism and donor liver production
  JOURNAL   Stem Cell Reports 16 (11), 2577-2588 (2021)
   PUBMED   34678209
  REMARK    GeneRIF: Fumarylacetoacetate hydrolase gene as a knockout target for
            hepatic chimerism and donor liver production. Review article
REFERENCE   3  (bases 1 to 1456)
  AUTHORS   Zhang L, Ge JY, Zheng YW, Sun Z, Wang C, Peng Z, Wu B, Fang M,
            Furuya K, Ma X, Shao Y, Ohkohchi N, Oda T, Fan J, Pan G, Li D and
            Hui L.
  TITLE     Survival-Assured Liver Injury Preconditioning (SALIC) Enables Robust
            Expansion of Human Hepatocytes in Fah-/- Rag2-/- IL2rg-/- Rats
  JOURNAL   Adv Sci (Weinh) 8 (19), e2101188 (2021)
   PUBMED   34382351
  REMARK    GeneRIF: Survival-Assured Liver Injury Preconditioning (SALIC)
            Enables Robust Expansion of Human Hepatocytes in Fah(-/-) Rag2(-/-)
            IL2rg(-/-) Rats.
REFERENCE   4  (bases 1 to 1456)
  AUTHORS   Gil-Martinez J, Macias I, Unione L, Bernardo-Seisdedos G,
            Lopitz-Otsoa F, Fernandez-Ramos D, Lain A, Sanz-Parra A, Mato JM and
            Millet O.
  TITLE     Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in
            Hereditary Tyrosinemia Type I
  JOURNAL   Int J Mol Sci 22 (4), 1789 (2021)
   PUBMED   33670179
  REMARK    GeneRIF: Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in
            Hereditary Tyrosinemia Type I. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1456)
  AUTHORS   Kaushal K, Woo SH, Tyagi A, Kim DH, Suresh B, Kim KS and Ramakrishna
            S.
  TITLE     E3 Ubiquitin Ligase APC/CCdh1 Negatively Regulates FAH Protein
            Stability by Promoting Its Polyubiquitination
  JOURNAL   Int J Mol Sci 21 (22), 8719 (2020)
   PUBMED   33218190
  REMARK    GeneRIF: E3 Ubiquitin Ligase APC/C(Cdh1) Negatively Regulates FAH
            Protein Stability by Promoting Its Polyubiquitination. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 1456)
  AUTHORS   Sniderman King,L., Trahms,C. and Scott,C.R.
  TITLE     Tyrosinemia Type I
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301688
REFERENCE   7  (bases 1 to 1456)
  AUTHORS   Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F and
            Tanguay RM.
  TITLE     Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity
            and identification of a causal mutation in a French Canadian patient
  JOURNAL   J Clin Invest 90 (4), 1185-1192 (1992)
   PUBMED   1401056
REFERENCE   8  (bases 1 to 1456)
  AUTHORS   Phaneuf D, Labelle Y, Berube D, Arden K, Cavenee W, Gagne R and
            Tanguay RM.
  TITLE     Cloning and expression of the cDNA encoding human
            fumarylacetoacetate hydrolase, the enzyme deficient in hereditary
            tyrosinemia: assignment of the gene to chromosome 15
  JOURNAL   Am J Hum Genet 48 (3), 525-535 (1991)
   PUBMED   1998338
REFERENCE   9  (bases 1 to 1456)
  AUTHORS   Tanguay RM, Valet JP, Lescault A, Duband JL, Laberge C, Lettre F and
            Plante M.
  TITLE     Different molecular basis for fumarylacetoacetate hydrolase
            deficiency in the two clinical forms of hereditary tyrosinemia (type
            I)
  JOURNAL   Am J Hum Genet 47 (2), 308-316 (1990)
   PUBMED   2378356
REFERENCE   10  (bases 1 to 1456)
  AUTHORS   Agsteribbe E, van Faassen H, Hartog MV, Reversma T, Taanman JW,
            Pannekoek H, Evers RF, Welling GM and Berger R.
  TITLE     Nucleotide sequence of cDNA encoding human fumarylacetoacetase
  JOURNAL   Nucleic Acids Res 18 (7), 1887 (1990)
   PUBMED   2336361
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M55150.1, GQ891433.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000561421.6/ ENSP00000453347.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313951.1 and BU679766.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 26, 2019 this sequence version replaced NM_000137.3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1456
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.1"
     gene            1..1456
                     /gene="FAH"
                     /note="fumarylacetoacetate hydrolase"
                     /db_xref="GeneID:2184"
                     /db_xref="HGNC:HGNC:3579"
                     /db_xref="MIM:613871"
     CDS             57..1316
                     /gene="FAH"
                     /EC_number="3.7.1.2"
                     /note="FAA; beta-diketonase; fumarylacetoacetate hydrolase
                     (fumarylacetoacetase); epididymis secretory sperm binding
                     protein"
                     /codon_start=1
                     /product="fumarylacetoacetase"
                     /protein_id="NP_000128.1"
                     /db_xref="CCDS:CCDS10314.1"
                     /db_xref="GeneID:2184"
                     /db_xref="HGNC:HGNC:3579"
                     /db_xref="MIM:613871"
                     /translation="MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSI
                     IKHLFTGPVLSKHQDVFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTELRK
                     CAFISQASATMHLPATIGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYHGRA
                     SSVVVSGTPIRRPMGQMKPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAH
                     EHIFGMVLMNDWSARDIQKWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDP
                     RPLPYLCHDEPYTFDINLSVNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNL
                     RPGDLLASGTISGPEPENFGSMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGD
                     GYRIGFGQCAGKVLPALLPS"
     misc_feature    60..62
                     /gene="FAH"
                     /note="N-acetylserine. /evidence=ECO:0000269|Ref.8,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P16930.2); acetylation site"
     misc_feature    330..332
                     /gene="FAH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P35505; propagated from
                     UniProtKB/Swiss-Prot (P16930.2); phosphorylation site"
     misc_feature    981..983
                     /gene="FAH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P16930.2); phosphorylation site"
     misc_feature    1239..1241
                     /gene="FAH"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P16930.2); phosphorylation site"
     regulatory      1420..1425
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAH"
                     /note="hexamer: AATAAA"
     polyA_site      1456
                     /gene="FAH"
                     /note="major polyA site"
ORIGIN
        1 agtcctgctc tccgcacgcc accttaggcc cgcagccgtg ccgggtgctc ttcagcatgt
       61 ccttcatccc ggtggccgag gattccgact tccccatcca caacctgccc tacggcgtct
      121 tctcgaccag aggcgaccca agaccgagga taggtgtggc cattggcgac cagatcctgg
      181 acctcagcat catcaagcac ctctttactg gtcctgtcct ctccaaacac caggatgtct
      241 tcaatcagcc tacactcaac agcttcatgg gcctgggtca ggctgcctgg aaggaggcga
      301 gagtgttctt gcagaacttg ctgtctgtga gccaagccag gctcagagat gacaccgaac
      361 ttcggaagtg tgcattcatc tcccaggctt ctgccacgat gcaccttcca gccaccatag
      421 gagactacac agacttctat tcctctcggc agcatgctac caacgtcgga atcatgttca
      481 gggacaagga gaatgcgttg atgccaaatt ggctgcactt accagtgggc taccatggcc
      541 gtgcctcctc tgtcgtggtg tctggcaccc caatccgaag gcccatggga cagatgaaac
      601 ctgatgactc taagcctccc gtatatggtg cctgcaagct cttggacatg gagctggaaa
      661 tggctttttt tgtaggccct ggaaacagat tgggagagcc gatccccatt tccaaggccc
      721 atgagcacat ttttggaatg gtccttatga acgactggag tgcacgagac attcagaagt
      781 gggagtatgt ccctctcggg ccattccttg ggaagagttt tgggaccact gtctctccgt
      841 gggtggtgcc catggatgct ctcatgccct ttgctgtgcc caacccgaag caggacccca
      901 ggcccctgcc gtatctgtgc catgacgagc cctacacatt tgacatcaac ctctctgtta
      961 acctgaaagg agaaggaatg agccaggcgg ctaccatatg caagtccaat tttaagtaca
     1021 tgtactggac gatgctgcag cagctcactc accactctgt caacggctgc aacctgcggc
     1081 cgggggacct cctggcttct gggaccatca gcgggccgga gccagaaaac ttcggctcca
     1141 tgttggaact gtcgtggaag ggaacgaagc ccatagacct ggggaatggt cagaccagga
     1201 agtttctgct ggacggggat gaagtcatca taacagggta ctgccagggg gatggttacc
     1261 gcatcggctt tggccagtgt gctggaaaag tgctgcctgc tctcctgcca tcatgagatt
     1321 ttctctgctc ttctggaaac aaagggctca agcacccctt tcaaccctgt gactggggtc
     1381 ctccctcggg ctgtaggcct ggtccgccat tcagtgacaa ataaagccat tgtgctctga
     1441 ggcctgcact gccgca
//
LOCUS       NM_000138              11609 bp    mRNA    linear   PRI 09-JUL-2023
DEFINITION  Homo sapiens fibrillin 1 (FBN1), transcript variant 1, mRNA.
ACCESSION   NM_000138
VERSION     NM_000138.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 11609)
  AUTHORS   Liu X, Yang M, Xie H, Zhao Q, Xu B, Xiao X, Tan Y and Liu S.
  TITLE     [Clinical manifestations and genetic analysis of 4 patients with
            variants of FBN1 gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (7), 781-786 (2023)
   PUBMED   37368377
  REMARK    GeneRIF: [Clinical manifestations and genetic analysis of 4 patients
            with variants of FBN1 gene].
REFERENCE   2  (bases 1 to 11609)
  AUTHORS   Romere C, Duerrschmid C, Bournat J, Constable P, Jain M, Xia F, Saha
            PK, Del Solar M, Zhu B, York B, Sarkar P, Rendon DA, Gaber MW,
            LeMaire SA, Coselli JS, Milewicz DM, Sutton VR, Butte NF, Moore DD
            and Chopra AR.
  TITLE     Asprosin, a Fasting-Induced Glucogenic Protein Hormone
  JOURNAL   Cell 165 (3), 566-579 (2016)
   PUBMED   27087445
  REMARK    GeneRIF: Authors discovered a protein hormone that regulates glucose
            homeostasis. It is the C-terminal cleavage product of profibrillin
            (encoded by FBN1). Its absence in humans results in a unique pattern
            of metabolic dysregulation that includes partial lipodystrophy,
            accompanied by reduced plasma insulin, while maintaining euglycemia.
REFERENCE   3  (bases 1 to 11609)
  AUTHORS   Ramachandra CJ, Mehta A, Guo KW, Wong P, Tan JL and Shim W.
  TITLE     Molecular pathogenesis of Marfan syndrome
  JOURNAL   Int J Cardiol 187, 585-591 (2015)
   PUBMED   25863307
  REMARK    GeneRIF: Progressive pathological aortic root enlargement as the
            result of degeneration of microfibril architecture and consequential
            loss of extracellular matrix integrity due to fibrillin-1 (FBN1)
            mutations are commonly diagnosed clinical manifestations of MFS.
            Review article
REFERENCE   4  (bases 1 to 11609)
  AUTHORS   Marzin,P. and Cormier-Daire,V.
  TITLE     Geleophysic Dysplasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301776
REFERENCE   5  (bases 1 to 11609)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301533
REFERENCE   6  (bases 1 to 11609)
  AUTHORS   Dietz,H.
  TITLE     FBN1-Related Marfan Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301510
REFERENCE   7  (bases 1 to 11609)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301299
REFERENCE   8  (bases 1 to 11609)
  AUTHORS   Marzin,P., Cormier-Daire,V. and Tsilou,E.
  TITLE     Weill-Marchesani Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301293
REFERENCE   9  (bases 1 to 11609)
  AUTHORS   Magenis RE, Maslen CL, Smith L, Allen L and Sakai LY.
  TITLE     Localization of the fibrillin (FBN) gene to chromosome 15, band
            q21.1
  JOURNAL   Genomics 11 (2), 346-351 (1991)
   PUBMED   1769651
REFERENCE   10  (bases 1 to 11609)
  AUTHORS   Maslen CL, Corson GM, Maddox BK, Glanville RW and Sakai LY.
  TITLE     Partial sequence of a candidate gene for the Marfan syndrome
  JOURNAL   Nature 352 (6333), 334-337 (1991)
   PUBMED   1852207
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X63556.1, BC146854.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000316623.10/ ENSP00000325527.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC084757.2, BC146854.1 and
            AC084758.3.
            On Sep 26, 2019 this sequence version replaced NM_000138.4.
            Summary: This gene encodes a member of the fibrillin family of
            proteins. The encoded preproprotein is proteolytically processed to
            generate two proteins including the extracellular matrix component
            fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an
            extracellular matrix glycoprotein that serves as a structural
            component of calcium-binding microfibrils. These microfibrils
            provide force-bearing structural support in elastic and nonelastic
            connective tissue throughout the body. Asprosin, secreted by white
            adipose tissue, has been shown to regulate glucose homeostasis.
            Mutations in this gene are associated with Marfan syndrome and the
            related MASS phenotype, as well as ectopia lentis syndrome,
            Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and
            neonatal progeroid syndrome. [provided by RefSeq, Apr 2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..11609
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     gene            1..11609
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /note="fibrillin 1"
                     /db_xref="GeneID:2200"
                     /db_xref="HGNC:HGNC:3603"
                     /db_xref="MIM:134797"
     CDS             317..8932
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /note="isoform a preproprotein is encoded by transcript
                     variant 1; fibrillin 15; fibrillin-1 preproprotein;
                     asprosin; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="fibrillin-1 isoform a preproprotein"
                     /protein_id="NP_000129.3"
                     /db_xref="CCDS:CCDS32232.1"
                     /db_xref="GeneID:2200"
                     /db_xref="HGNC:HGNC:3603"
                     /db_xref="MIM:134797"
                     /translation="MRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRR
                     GGGGHDALKGPNVCGSRYNAYCCPGWKTLPGGNQCIVPICRHSCGDGFCSRPNMCTCPS
                     GQIAPSCGSRSIQHCNIRCMNGGSCSDDHCLCQKGYIGTHCGQPVCESGCLNGGRCVAP
                     NRCACTYGFTGPQCERDYRTGPCFTVISNQMCQGQLSGIVCTKTLCCATVGRAWGHPCE
                     MCPAQPHPCRRGFIPNIRTGACQDVDECQAIPGLCQGGNCINTVGSFECKCPAGHKLNE
                     VSQKCEDIDECSTIPGICEGGECTNTVSSYFCKCPPGFYTSPDGTRCIDVRPGYCYTAL
                     TNGRCSNQLPQSITKMQCCCDAGRCWSPGVTVAPEMCPIRATEDFNKLCSVPMVIPGRP
                     EYPPPPLGPIPPVLPVPPGFPPGPQIPVPRPPVEYLYPSREPPRVLPVNVTDYCQLVRY
                     LCQNGRCIPTPGSYRCECNKGFQLDLRGECIDVDECEKNPCAGGECINNQGSYTCQCRA
                     GYQSTLTRTECRDIDECLQNGRICNNGRCINTDGSFHCVCNAGFHVTRDGKNCEDMDEC
                     SIRNMCLNGMCINEDGSFKCICKPGFQLASDGRYCKDINECETPGICMNGRCVNTDGSY
                     RCECFPGLAVGLDGRVCVDTHMRSTCYGGYKRGQCIKPLFGAVTKSECCCASTEYAFGE
                     PCQPCPAQNSAEYQALCSSGPGMTSAGSDINECALDPDICPNGICENLRGTYKCICNSG
                     YEVDSTGKNCVDINECVLNSLLCDNGQCRNTPGSFVCTCPKGFIYKPDLKTCEDIDECE
                     SSPCINGVCKNSPGSFICECSSESTLDPTKTICIETIKGTCWQTVIDGRCEININGATL
                     KSQCCSSLGAAWGSPCTLCQVDPICGKGYSRIKGTQCEDIDECEVFPGVCKNGLCVNTR
                     GSFKCQCPSGMTLDATGRICLDIRLETCFLRYEDEECTLPIAGRHRMDACCCSVGAAWG
                     TEECEECPMRNTPEYEELCPRGPGFATKEITNGKPFFKDINECKMIPSLCTHGKCRNTI
                     GSFKCRCDSGFALDSEERNCTDIDECRISPDLCGRGQCVNTPGDFECKCDEGYESGFMM
                     MKNCMDIDECQRDPLLCRGGVCHNTEGSYRCECPPGHQLSPNISACIDINECELSAHLC
                     PNGRCVNLIGKYQCACNPGYHSTPDRLFCVDIDECSIMNGGCETFCTNSEGSYECSCQP
                     GFALMPDQRSCTDIDECEDNPNICDGGQCTNIPGEYRCLCYDGFMASEDMKTCVDVNEC
                     DLNPNICLSGTCENTKGSFICHCDMGYSGKKGKTGCTDINECEIGAHNCGKHAVCTNTA
                     GSFKCSCSPGWIGDGIKCTDLDECSNGTHMCSQHADCKNTMGSYRCLCKEGYTGDGFTC
                     TDLDECSENLNLCGNGQCLNAPGGYRCECDMGFVPSADGKACEDIDECSLPNICVFGTC
                     HNLPGLFRCECEIGYELDRSGGNCTDVNECLDPTTCISGNCVNTPGSYICDCPPDFELN
                     PTRVGCVDTRSGNCYLDIRPRGDNGDTACSNEIGVGVSKASCCCSLGKAWGTPCEMCPA
                     VNTSEYKILCPGGEGFRPNPITVILEDIDECQELPGLCQGGKCINTFGSFQCRCPTGYY
                     LNEDTRVCDDVNECETPGICGPGTCYNTVGNYTCICPPDYMQVNGGNNCMDMRRSLCYR
                     NYYADNQTCDGELLFNMTKKMCCCSYNIGRAWNKPCEQCPIPSTDEFATLCGSQRPGFV
                     IDIYTGLPVDIDECREIPGVCENGVCINMVGSFRCECPVGFFYNDKLLVCEDIDECQNG
                     PVCQRNAECINTAGSYRCDCKPGYRFTSTGQCNDRNECQEIPNICSHGQCIDTVGSFYC
                     LCHTGFKTNDDQTMCLDINECERDACGNGTCRNTIGSFNCRCNHGFILSHNNDCIDVDE
                     CASGNGNLCRNGQCINTVGSFQCQCNEGYEVAPDGRTCVDINECLLEPRKCAPGTCQNL
                     DGSYRCICPPGYSLQNEKCEDIDECVEEPEICALGTCSNTEGSFKCLCPEGFSLSSSGR
                     RCQDLRMSYCYAKFEGGKCSSPKSRNHSKQECCCALKGEGWGDPCELCPTEPDEAFRQI
                     CPYGSGIIVGPDDSAVDMDECKEPDVCKHGQCINTDGSYRCECPFGYILAGNECVDTDE
                     CSVGNPCGNGTCKNVIGGFECTCEEGFEPGPMMTCEDINECAQNPLLCAFRCVNTYGSY
                     ECKCPVGYVLREDRRMCKDEDECEEGKHDCTEKQMECKNLIGTYMCICGPGYQRRPDGE
                     GCVDENECQTKPGICENGRCLNTRGSYTCECNDGFTASPNQDECLDNREGYCFTEVLQN
                     MCQIGSSNRNPVTKSECCCDGGRGWGPHCEICPFQGTVAFKKLCPHGRGFMTNGADIDE
                     CKVIHDVCRNGECVNDRGSYHCICKTGYTPDITGTSCVDLNECNQAPKPCNFICKNTEG
                     SYQCSCPKGYILQEDGRSCKDLDECATKQHNCQFLCVNTIGGFTCKCPPGFTQHHTSCI
                     DNNECTSDINLCGSKGICQNTPGSFTCECQRGFSLDQTGSSCEDVDECEGNHRCQHGCQ
                     NIIGGYRCSCPQGYLQHYQWNQCVDENECLSAHICGGASCHNTLGSYKCMCPAGFQYEQ
                     FSGGCQDINECGSAQAPCSYGCSNTEGGYLCGCPPGYFRIGQGHCVSGMGMGRGNPEPP
                     VSGEMDDNSLSPEACYECKINGYPKRGRKRRSTNETDASNIEDQSETEANVSLASWDVE
                     KTAIFAFNISHVSNKVRILELLPALTTLTNHNRYLIESGNEDGFFKINQKEGISYLHFT
                     KKKPVAGTYSLQISSTPLYKKKELNQLEDKYDKDYLSGELGDNLKMKIQVLLH"
     sig_peptide     317..397
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     398..8509
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /product="Fibrillin-1"
     misc_feature    8507..8512
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /experiment="EXISTENCE:Western blot evidence[10198291]"
                     /note="cleavage by furin"
     mat_peptide     8510..8929
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /product="Asprosin"
     regulatory      9819..9824
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /note="hexamer: AATAAA"
     polyA_site      9849
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /note="major polyA site"
     regulatory      9908..9913
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /note="hexamer: AATAAA"
     polyA_site      9932
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
     regulatory      11589..11594
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /note="hexamer: AATAAA"
     polyA_site      11609
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
ORIGIN
        1 agagactgtg ggtgccacaa gcggacagga gccacagctg ggacagctgc gagcggagcc
       61 gagcagtggc tgtagcggcc acgactggga gcagccgccg ccgcctcctc gggagtcgga
      121 gccgccgctt ctccactggc aggggccgcc tgaagtggga gcagcgcctg gagaaggcgg
      181 gaggagcccg gcccggggga cgggcggcgg gatagcggga ccccggcggc gcggtgcgct
      241 tcagggcgca gcggcggccg cagaccgagc cccgggcgcg gcaagaggcg gcgggagccg
      301 gtggcggctc ggcatcatgc gtcgagggcg tctgctggag atcgccctgg gatttaccgt
      361 gcttttagcg tcctacacga gccatggggc ggacgccaat ttggaggctg ggaacgtgaa
      421 ggaaaccaga gccagtcggg ccaagagaag aggcggtgga ggacacgacg cgcttaaagg
      481 acccaatgtc tgtggatcac gttataatgc ttactgttgc cctggatgga aaaccttacc
      541 tggcggaaat cagtgtattg tccccatttg ccggcattcc tgtggggatg gattttgttc
      601 gaggccaaat atgtgcactt gcccatctgg tcagatagct ccttcctgtg gctccagatc
      661 catacaacac tgcaatattc gctgtatgaa tggaggtagc tgcagtgacg atcactgtct
      721 atgccagaaa ggatacatag ggactcactg tggacaacct gtttgtgaaa gtggctgtct
      781 caatggagga aggtgtgtgg ccccaaatcg atgtgcatgc acttacggat ttactggacc
      841 ccagtgtgaa agagattaca ggacaggccc atgttttact gtgatcagca accagatgtg
      901 ccagggacaa ctcagcggga ttgtctgcac aaaaacgctc tgctgtgcca cagtcggccg
      961 agcctggggc cacccctgtg agatgtgtcc tgcccagcct cacccctgcc gccgtggctt
     1021 cattccaaat atccgcacgg gagcttgtca agatgtggat gaatgccagg ccatccccgg
     1081 gctctgtcag ggaggaaatt gcattaatac tgttgggtct tttgagtgca aatgccctgc
     1141 tggacacaaa cttaatgaag tgtcacaaaa atgtgaagat attgatgaat gcagcaccat
     1201 tcctggaatc tgtgaagggg gtgaatgtac aaacacagtc agcagttact tttgcaaatg
     1261 tccccctggt ttttacacct ctccagatgg taccagatgc atagatgttc gcccaggata
     1321 ctgttacaca gctctgacaa acgggcgctg ctctaaccag ctgccacagt ccataaccaa
     1381 aatgcagtgc tgctgtgatg ccggccgatg ctggtctcca ggggtcactg tcgcccctga
     1441 gatgtgtccc atcagagcaa ccgaggattt caacaagctg tgctctgttc ctatggtaat
     1501 tcctgggaga ccagaatatc ctcccccacc ccttggcccc attcctccag ttctccctgt
     1561 tcctcctggc tttcctcctg gacctcaaat tccggtccct cgaccaccag tggaatatct
     1621 gtatccatct cgggagccac caagggtgct gccagtaaac gttactgatt actgccagtt
     1681 ggtccgctat ctctgtcaaa atggacgctg cattccaact cctgggagtt accggtgtga
     1741 gtgcaacaaa gggttccagc tggacctccg tggggagtgt attgatgttg atgaatgtga
     1801 gaaaaacccc tgtgctggtg gtgagtgtat taacaaccag ggttcgtaca cctgtcagtg
     1861 ccgagctgga tatcagagca cactcacgcg gacagaatgc cgagacattg atgagtgttt
     1921 acagaatggc cggatctgca ataatggacg ctgcatcaac acagatggca gttttcattg
     1981 cgtgtgtaat gcgggctttc atgttacacg agatgggaag aactgtgaag atatggatga
     2041 atgcagcata aggaacatgt gccttaatgg aatgtgtatc aatgaagatg gcagttttaa
     2101 atgtatttgc aaacctggat tccagctggc atcagatgga cgttattgca aagacattaa
     2161 cgagtgtgaa acccctggga tctgcatgaa tgggcgttgc gtcaacactg atggctccta
     2221 cagatgtgaa tgcttccctg gactggctgt gggtctggat ggccgtgtgt gtgttgacac
     2281 acacatgcgg agcacatgct atggtggata caagagaggc cagtgtatca aacctttgtt
     2341 tggtgctgtc actaaatctg aatgctgttg cgccagcact gagtatgcat ttggggaacc
     2401 ttgccagccg tgtcctgcac agaattcagc ggaatatcag gcactctgca gcagtgggcc
     2461 aggaatgacg tcagcaggca gtgatataaa tgaatgtgca ctagatcctg atatttgccc
     2521 aaatggaatc tgtgaaaacc ttcgtgggac ctataaatgt atatgcaatt caggatatga
     2581 agtggattca actgggaaaa actgcgttga tattaatgaa tgtgtactga acagtctcct
     2641 ttgtgacaat ggacaatgta gaaatactcc tggaagtttt gtctgtacct gccccaaggg
     2701 atttatctac aaacctgatc taaaaacatg tgaagacatt gatgaatgcg aatcaagtcc
     2761 ttgcattaat ggagtctgca agaacagccc aggctctttt atttgtgaat gttcttctga
     2821 aagtactttg gatccaacaa aaaccatctg catagaaacc atcaagggca cttgctggca
     2881 gactgtcatt gatgggcgat gtgagatcaa catcaatgga gccaccttaa agtcccagtg
     2941 ctgctcctcc ctcggtgctg cgtggggaag cccgtgcacc ctatgccaag ttgatcccat
     3001 atgtggtaaa gggtactcaa gaattaaagg aacacaatgt gaagatatag atgaatgtga
     3061 agtgttccca ggagtgtgta aaaatggcct gtgtgttaac actagggggt cattcaagtg
     3121 tcagtgtccc agtggaatga ctttggatgc cacaggaagg atctgtcttg atatccgcct
     3181 ggaaacctgc ttcctgaggt acgaggacga ggagtgcacc ctgcctattg ctggccgcca
     3241 ccgcatggac gcctgctgct gctccgtcgg ggcagcctgg ggtactgagg aatgcgagga
     3301 gtgtcccatg agaaatactc ctgagtacga ggagctgtgt ccgagaggac ccggatttgc
     3361 cacaaaagaa attacaaatg gaaagccttt cttcaaagat atcaatgagt gcaagatgat
     3421 acccagcctc tgcacccacg gcaagtgcag aaacaccatt ggcagcttta agtgcaggtg
     3481 tgacagcggc tttgctcttg attctgaaga aaggaactgc acagacattg acgaatgccg
     3541 catatctcct gacctctgtg gcagaggcca gtgtgtgaac acccctgggg actttgaatg
     3601 caagtgtgac gaaggctatg aaagtggatt catgatgatg aagaactgca tggatattga
     3661 tgagtgtcag agagatcctc tcctatgccg aggtggtgtt tgccataaca cagagggaag
     3721 ttaccgctgt gaatgcccgc ctggccatca gctgtccccc aacatctccg cgtgtatcga
     3781 catcaatgaa tgtgagctga gtgcacacct gtgccccaat ggccgttgcg tgaacctcat
     3841 agggaagtat cagtgtgcct gcaaccctgg ctaccattca actcccgata ggctattttg
     3901 tgttgacatt gatgaatgca gcataatgaa tggtggttgt gaaaccttct gcacaaactc
     3961 tgaaggcagc tatgaatgta gctgtcagcc gggatttgca ctaatgcctg accagagatc
     4021 atgcaccgac atcgatgagt gtgaagataa tcccaatatc tgtgatggtg gtcagtgcac
     4081 aaatatccct ggagagtaca ggtgcttgtg ttatgatgga ttcatggcat ctgaagacat
     4141 gaagacttgt gtagatgtca atgagtgtga cctgaatcca aatatctgcc taagtgggac
     4201 ctgtgaaaac acgaaaggct catttatctg ccactgtgat atgggctact ccggcaaaaa
     4261 aggaaaaact ggctgtacag acatcaatga atgtgaaatt ggagcacaca actgtggcaa
     4321 acatgctgta tgtaccaata cagcaggaag cttcaaatgt agctgcagtc ccgggtggat
     4381 tggagatggc attaagtgca ctgatctgga cgaatgttcc aatggaaccc atatgtgcag
     4441 ccagcatgca gactgcaaga ataccatggg atcttaccgc tgtctgtgca aggaaggata
     4501 cacaggtgat ggcttcactt gtacagacct tgatgagtgc tctgagaacc tgaatctctg
     4561 tggcaatggc cagtgcctca atgcaccagg aggataccgc tgtgaatgcg acatgggctt
     4621 cgtgcccagt gctgacggga aagcctgtga agatattgat gagtgctccc ttccgaacat
     4681 ctgtgtcttt ggaacttgcc acaacctccc tggcctgttc cgctgtgagt gtgagatagg
     4741 ctacgaactg gacagaagcg gcgggaactg cacagatgtg aatgaatgcc tggatccaac
     4801 cacgtgcatc agtgggaact gtgtcaacac tccaggcagc tatatctgtg actgcccacc
     4861 tgattttgaa ctgaacccaa ctcgagttgg ctgtgttgat acccgctctg gaaattgcta
     4921 tttggatatt cgacctcgag gagacaatgg agatacagcc tgcagcaatg aaattggagt
     4981 tggtgtttcc aaagcttcct gctgctgttc tctgggtaaa gcctggggta ctccttgtga
     5041 gatgtgtcct gctgtgaaca catccgagta caaaattctt tgtcctggag gggaaggttt
     5101 ccgaccaaat cctatcaccg ttatattgga agatattgat gagtgccagg agctaccagg
     5161 gctgtgccaa ggaggaaaat gtatcaacac ctttgggagt ttccagtgcc gctgtccaac
     5221 cggctactac ctgaatgaag atacacgagt gtgtgatgat gtgaatgaat gtgagactcc
     5281 tggaatctgt ggtccaggga catgttacaa caccgttggc aactacacct gtatctgtcc
     5341 tccagactac atgcaagtga atgggggaaa taattgcatg gatatgagaa gaagtttgtg
     5401 ctacagaaac tactatgctg acaaccagac ctgtgatgga gaattgttat tcaacatgac
     5461 caagaagatg tgctgctgtt cctacaacat tggccgggcg tggaacaagc cctgtgaaca
     5521 gtgtcccatc ccaagtacag atgagtttgc tacactctgt ggaagtcaaa ggccaggctt
     5581 tgtcatcgac atttataccg gtttacccgt tgatattgat gagtgccggg agatcccagg
     5641 ggtctgtgaa aatggagtgt gtatcaacat ggttggcagc ttccgatgtg aatgtccagt
     5701 gggattcttc tataatgaca agttgttggt ttgtgaagat attgacgagt gtcagaacgg
     5761 cccagtgtgc cagcgcaacg ccgaatgcat caacactgca ggcagctacc gctgtgactg
     5821 taagcccggc taccgcttca cctccacagg acagtgcaat gatcgtaatg aatgtcaaga
     5881 aatccccaat atatgcagtc atgggcagtg cattgacaca gttggaagct tttattgcct
     5941 ttgccacact ggttttaaaa caaatgatga ccaaaccatg tgcttggaca taaatgaatg
     6001 tgaaagagat gcctgtggga atggaacttg ccggaacaca attggttcct tcaactgccg
     6061 ctgcaatcat ggtttcatcc tttctcacaa caatgactgt atagatgttg atgaatgtgc
     6121 aagtggaaat gggaatcttt gcagaaatgg ccaatgcatt aatacagtgg ggtctttcca
     6181 gtgccagtgc aatgaaggct atgaggtggc tccagatggg aggacctgtg tggatatcaa
     6241 tgaatgtctt ctagaaccca gaaaatgtgc accaggtacc tgtcaaaact tggatgggtc
     6301 ctacagatgc atttgcccac ctggatacag tcttcaaaat gagaagtgtg aagatattga
     6361 tgagtgtgtc gaagagccag aaatttgtgc cctgggcaca tgcagtaaca ctgaaggcag
     6421 cttcaaatgt ctgtgtccag aagggttttc cttgtcctcc agtggaagaa ggtgccaaga
     6481 tttgcgaatg agctactgtt atgcgaagtt tgaaggagga aagtgttcat cacccaaatc
     6541 cagaaatcac tccaagcagg aatgctgctg tgccttgaag ggagaaggct ggggagaccc
     6601 ctgcgagctc tgccccacgg aacctgatga ggccttccgc cagatatgtc cttatggaag
     6661 tgggatcatc gtgggacctg atgattcagc agttgatatg gacgaatgca aagaacccga
     6721 tgtctgtaaa catggacagt gcatcaatac agatggttcc tatcgctgcg agtgtccctt
     6781 tggttatatt ctagcaggga atgaatgtgt agatactgat gaatgttctg ttggcaatcc
     6841 ttgtggaaat ggaacctgca agaatgtgat tggaggtttt gaatgcacct gcgaggaggg
     6901 atttgagccc ggtccaatga tgacatgtga agatataaat gaatgtgccc agaatcctct
     6961 gctctgtgcc ttccgatgtg tgaacactta tgggtcatat gaatgcaaat gtcccgtggg
     7021 atatgtgctc agagaagacc gtaggatgtg caaagatgag gatgagtgtg aagagggaaa
     7081 acatgactgt actgaaaaac aaatggaatg caagaacctc attggcacat atatgtgcat
     7141 ctgtggaccc gggtatcagc ggagacctga tggagaaggc tgtgtagatg agaatgaatg
     7201 tcagacgaag ccagggatct gtgagaatgg gcgctgcctc aacacccgtg ggagctacac
     7261 ctgtgagtgt aatgatgggt ttaccgccag ccccaaccag gacgagtgcc ttgacaatcg
     7321 ggaagggtac tgcttcacag aggtgctaca aaacatgtgt cagatcggct ccagcaacag
     7381 gaaccccgtc accaaatcgg aatgctgctg tgacggaggg agaggctggg gtccccactg
     7441 tgagatctgc cctttccagg ggactgtggc tttcaagaaa ctctgtcccc atggccgagg
     7501 attcatgacc aatggagcag atatcgatga atgcaaggtt attcacgatg tttgccgaaa
     7561 tggggaatgt gtcaatgaca gaggatcata tcattgcatt tgtaaaactg ggtacactcc
     7621 agatataact gggacttcct gtgtagatct gaacgagtgc aaccaggctc ccaaaccctg
     7681 caattttatc tgcaaaaaca cagaagggag ttaccagtgt tcatgcccga aaggctacat
     7741 tctgcaagag gatggaagga gctgcaaaga tcttgatgag tgtgcaacca agcaacacaa
     7801 ctgccagttc ctatgtgtta acaccattgg cggcttcaca tgcaaatgtc ctcccggatt
     7861 tacccaacac catacgtcct gcattgataa caatgaatgc acctctgaca tcaatctgtg
     7921 cgggtctaag ggcatttgcc agaacactcc tggaagcttc acctgtgaat gccagcgggg
     7981 attctcactt gatcagaccg gctccagctg tgaagacgtg gacgagtgtg agggtaacca
     8041 ccgctgccag catggctgcc agaacatcat tgggggctac aggtgcagct gcccccaggg
     8101 ctacctccag cactaccagt ggaaccagtg tgttgatgaa aacgaatgcc tcagcgctca
     8161 catctgcgga ggagcctcct gtcacaacac cctggggagc tacaagtgca tgtgtcccgc
     8221 cggcttccag tatgaacagt tcagtggagg atgccaagac atcaatgaat gtggctctgc
     8281 gcaggccccc tgcagctatg gctgttccaa taccgagggc ggttacctgt gtggctgtcc
     8341 acctggttac ttccgcatag gccaagggca ctgtgtttct ggaatgggca tgggccgagg
     8401 aaacccagag ccacctgtca gtggtgaaat ggatgacaat tcactctccc cagaggcttg
     8461 ttacgagtgt aagatcaatg gctaccccaa acggggcagg aaacggagaa gcacaaacga
     8521 aactgatgcc tccaatatcg aggatcagtc tgagacagaa gccaatgtga gtcttgcaag
     8581 ttgggatgtt gagaagacag ccatctttgc tttcaatatt tcccacgtca gtaacaaggt
     8641 tcgaatccta gaactccttc cagctcttac aactctgacg aatcacaaca gatacttgat
     8701 cgaatctgga aatgaagatg gcttctttaa aatcaaccaa aaggaaggga tcagctacct
     8761 ccacttcaca aagaagaagc cagtggctgg aacctattca ttacaaatca gtagtactcc
     8821 actttataaa aagaaagaac ttaaccaact agaagacaaa tatgacaaag actacctcag
     8881 tggtgaactg ggtgataatc tgaagatgaa aatccaggtt ttgcttcatt aattcaccat
     8941 ccagagacca aataattaaa agaaaaacaa atatagatag gtagaactat attttccccc
     9001 aatcagaatc atcatatcat aggtacaatc tttcaccaag taaatttgta taaataagca
     9061 ctattctttg tattaccaaa gcaaggtaca ggtgactacc ctagttcaaa acaaccactt
     9121 tctcaggctt ctcatgtgtg tagctaagct accttgtcat atgtgttgat tcttgaaaac
     9181 tgggacgtgt atttccattg ggggttggcc atttatgctg acatgccatc cttccagcaa
     9241 acgtacggga atgtgctttc aattgatgga ctactctatt ttttgcaaat ttgtaaactt
     9301 tgcttctcca aatacaagta ctaggttgtc catttatggt acctatttgg tgctagtaaa
     9361 ttttcaaact agatttataa atgcactgta atatgtacac aacttagaaa ccaaattaca
     9421 agtattcagt tccaatactt cattaatttc aatcaaccaa agttagttca gtagcttatc
     9481 tcagttatga gtataataca ttacatgtaa attaagtgtg tgtatactgt aatcgtgcta
     9541 ttttttatca ttgaaacatt tataaactag aataataatg cccttaatgt gagggtttgt
     9601 aatggtgctt attaagacca aagacttgtt aaatgtatac accaagtggt aatgaaattt
     9661 cggtgactgg cccacacgtg catagaggtc tgggaggacc aggaaacagc ctcagtggcc
     9721 agaggatcac cagtgcatcc ttcatcacag catgtgcaat atgccaagat taccctcggt
     9781 cattcctgtc aacaaggggt caatgtcata aatgtcacaa taaaacaatc tcttcttttt
     9841 tttagtttac cccttggctt tgtgttcttg catggatttg gggttggagg ggccattccg
     9901 gaggctaaat aaagtctcct ggatttaaat tatcctgggt ctcttactta tggcttatga
     9961 aagtaccaaa tgtataacca ctagaagaaa atttaacata tgagtcgatc ccttgtttta
    10021 tccattgaaa gtagcagagt ctggtgtcat taacctgact tgcttgtgag aaatttagat
    10081 tgtagagtca tttctgaaac atgacctaat tcatcttgtg acttttaaat agtcttaaat
    10141 accaagttca gtcattgtct tagagcacat gaatttcatt ataatagatt tatcatgccc
    10201 ccctctcaaa tatacacagt tttggcaagc cttaggtgtt ctgttccatt tttttttccc
    10261 ctaaacatct ttcgttagtc aatgctcatc taattacaaa gggataatcc cagactgtat
    10321 ccaattgctg taacttttgg tttcttaatg tcataatttt taaagtctgt tttattttaa
    10381 gtgcaatatt gagtatttag ctgttaggct caatccgtcg atatgaaata attttttaaa
    10441 tccctaaggg caggaaagca tttcgtggta gtgaaaataa gaggaaataa gatggcatga
    10501 aggtggtggg cggagaaact aggtaggaca caggaaagtg ctctcaaaaa tctttgaaga
    10561 gctcagctga aaaaaatgga gtagatttgg ctcatactat tccggaaggc aaaaccaggg
    10621 tcagctgatg tcagccccag tttaatacac acggtcccaa ttatagagct actcactgaa
    10681 agaatgggtt tccttgcatt gtggtgagct ccctgtcaca agatagaaga gtttcagtct
    10741 aggcttaatg gcaaccattg gacaaagatg ctttcttcca cctaacaggc cattaacatc
    10801 ttaaaggtat ttttgtatct ctaattttgt ttataatagg tgctcaacag aatgagctga
    10861 atggctgtta caaagggggt ttgtaccttg ggtaagagat taaaatataa ctcaaaattt
    10921 ccttctaacg ctgcacctat ggaaccatgt gatagaggtg tattaaaatt gttatcgaag
    10981 aatatatagc atatggtaaa caacagtttg catatggaaa atgtctttga taatttaacc
    11041 agaactgcat tatattcaat aacggatttt ctttataaca aacaacaggg gaaaatggag
    11101 ttggcacaca gtggatcact ttgatatttt taatagtcca agtctggatt ttatttattc
    11161 ctgagccaac aattttgaac agcatatttt ccatgtttct gactgtaaca aaacattttc
    11221 ctcattgttc cattgtaaat attcctcttg ttggaactct ttttaatcct gagatttaaa
    11281 cctgtacctt tcaattgtct gtgacctttc aatttcactt tcaatagttg aagaacttgg
    11341 ctttgtaaat ctctcagaag cttgaaaata tcttgtctct accccctcag cccatttcat
    11401 ttgccaataa ttattttgta agtagggttg aaatgaactc agctggcctt gtgaaatgtt
    11461 taaacttgca caaacaacta catttttgtt caacaaatag cagtttactc agccaaaatc
    11521 actttggata ttgccattac aaatactgtt aaacttcaga aatcatgtct gtaaattaga
    11581 tgagccaaaa taaaggacaa ttgggttga
//
LOCUS       NM_000139               3648 bp    mRNA    linear   PRI 12-MAY-2023
DEFINITION  Homo sapiens membrane spanning 4-domains A2 (MS4A2), transcript
            variant 1, mRNA.
ACCESSION   NM_000139
VERSION     NM_000139.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3648)
  AUTHORS   Bitting K, Hedgespeth B, Ehrhardt-Humbert LC, Arthur GK, Schubert
            AG, Bradding P, Tilley SL and Cruse G.
  TITLE     Identification of redundancy between human FcepsilonRIbeta and
            MS4A6A proteins points toward additional complex mechanisms for
            FcepsilonRI trafficking and signaling
  JOURNAL   Allergy 78 (5), 1204-1217 (2023)
   PUBMED   36424895
  REMARK    GeneRIF: Identification of redundancy between human FcepsilonRIbeta
            and MS4A6A proteins points toward additional complex mechanisms for
            FcepsilonRI trafficking and signaling.
REFERENCE   2  (bases 1 to 3648)
  AUTHORS   Hua L, Chen Q, Liu QH, Guo YF, Cheng RH, Zhang J, Zhang JH, Wang LW
            and Ji RX.
  TITLE     Interaction between antibiotic use and MS4A2 gene polymorphism on
            childhood eczema: a prospective birth cohort study
  JOURNAL   BMC Pediatr 21 (1), 314 (2021)
   PUBMED   34261469
  REMARK    GeneRIF: Interaction between antibiotic use and MS4A2 gene
            polymorphism on childhood eczema: a prospective birth cohort study.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3648)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3648)
  AUTHORS   Ly D, Zhu CQ, Cabanero M, Tsao MS and Zhang L.
  TITLE     Role for High-Affinity IgE Receptor in Prognosis of Lung
            Adenocarcinoma Patients
  JOURNAL   Cancer Immunol Res 5 (9), 821-829 (2017)
   PUBMED   28775209
  REMARK    GeneRIF: Using immunohistochemistry, we validated that MS4A2, the
            beta subunit of the IgE receptor expressed on mast cells, is a
            favorable prognostic indicator and show that MS4A2 gene expression
            is an independent prognostic marker for early-stage lung cancer
            patient survival.
REFERENCE   5  (bases 1 to 3648)
  AUTHORS   Jones KD, Gelbart T, Whisenant TC, Waalen J, Mondala TS, Ikle DN,
            Salomon DR, Bennett RM and Kurian SM.
  TITLE     Genome-wide expression profiling in the peripheral blood of patients
            with fibromyalgia
  JOURNAL   Clin Exp Rheumatol 34 (2 Suppl 96), S89-S98 (2016)
   PUBMED   27157394
  REMARK    GeneRIF: MS4A2 was differentially expressed between Fibromyalgia
            patients and healthy controls.
REFERENCE   6  (bases 1 to 3648)
  AUTHORS   Kuster H, Zhang L, Brini AT, MacGlashan DW and Kinet JP.
  TITLE     The gene and cDNA for the human high affinity immunoglobulin E
            receptor beta chain and expression of the complete human receptor
  JOURNAL   J Biol Chem 267 (18), 12782-12787 (1992)
   PUBMED   1535625
REFERENCE   7  (bases 1 to 3648)
  AUTHORS   Maekawa K, Imagawa N, Tanaka Y and Harada S.
  TITLE     Determination of the sequence coding for the beta subunit of the
            human high-affinity IgE receptor
  JOURNAL   FEBS Lett 302 (2), 161-165 (1992)
   PUBMED   1386024
REFERENCE   8  (bases 1 to 3648)
  AUTHORS   Bieber T, de la Salle H, Wollenberg A, Hakimi J, Chizzonite R, Ring
            J, Hanau D and de la Salle C.
  TITLE     Human epidermal Langerhans cells express the high affinity receptor
            for immunoglobulin E (Fc epsilon RI)
  JOURNAL   J Exp Med 175 (5), 1285-1290 (1992)
   PUBMED   1533242
REFERENCE   9  (bases 1 to 3648)
  AUTHORS   Le Coniat M, Kinet JP and Berger R.
  TITLE     The human genes for the alpha and gamma subunits of the mast cell
            receptor for immunoglobulin E are located on human chromosome band
            1q23
  JOURNAL   Immunogenetics 32 (3), 183-186 (1990)
   PUBMED   2146219
REFERENCE   10  (bases 1 to 3648)
  AUTHORS   Tedder TF, Streuli M, Schlossman SF and Saito H.
  TITLE     Isolation and structure of a cDNA encoding the B1 (CD20)
            cell-surface antigen of human B lymphocytes
  JOURNAL   Proc Natl Acad Sci U S A 85 (1), 208-212 (1988)
   PUBMED   2448768
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: D10583.1, BC074800.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000278888.8/ ENSP00000278888.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA972757.1, D10583.1,
            AP001181.4 and GD138492.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000139.4.
            Summary: The allergic response involves the binding of allergen to
            receptor-bound IgE followed by cell activation and the release of
            mediators responsible for the manifestations of allergy. The
            IgE-receptor, a tetramer composed of an alpha, beta, and 2
            disulfide-linked gamma chains, is found on the surface of mast
            cells and basophils. This gene encodes the beta subunit of the high
            affinity IgE receptor which is a member of the membrane-spanning 4A
            gene family. Members of this nascent protein family are
            characterized by common structural features and similar intron/exon
            splice boundaries and display unique expression patterns among
            hematopoietic cells and nonlymphoid tissues. This family member is
            localized to 11q12, among a cluster of membrane-spanning 4A gene
            family members. Alternative splicing results in multiple transcript
            variants encoding distinct proteins. Additional transcript variants
            have been described but require experimental validation. [provided
            by RefSeq, Mar 2012].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1) that traffics to the
            cytoplasmic membrane.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3648
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..3648
                     /gene="MS4A2"
                     /gene_synonym="APY; ATOPY; FCER1B; FCERI; IGEL; IGER;
                     IGHER"
                     /note="membrane spanning 4-domains A2"
                     /db_xref="GeneID:2206"
                     /db_xref="HGNC:HGNC:7316"
                     /db_xref="MIM:147138"
     misc_feature    64..66
                     /gene="MS4A2"
                     /gene_synonym="APY; ATOPY; FCER1B; FCERI; IGEL; IGER;
                     IGHER"
                     /note="upstream in-frame stop codon"
     CDS             103..837
                     /gene="MS4A2"
                     /gene_synonym="APY; ATOPY; FCER1B; FCERI; IGEL; IGER;
                     IGHER"
                     /note="isoform 1 is encoded by transcript variant 1;
                     immunoglobulin E receptor, high affinity, beta polypeptide;
                     high affinity immunoglobulin epsilon receptor subunit beta;
                     Fc fragment of IgE, high affinity I, receptor for; beta
                     polypeptide; membrane-spanning 4-domains subfamily A member
                     2; igE Fc receptor subunit beta; High affinity
                     immunoglobulin epsilon receptor beta-subunit (FcERI) (IgE
                     Fc receptor, beta-subunit) (Fc epsilon receptor I
                     beta-chain); high affinity IgE receptor beta subunit"
                     /codon_start=1
                     /product="high affinity immunoglobulin epsilon receptor
                     subunit beta isoform 1"
                     /protein_id="NP_000130.1"
                     /db_xref="CCDS:CCDS7980.1"
                     /db_xref="GeneID:2206"
                     /db_xref="HGNC:HGNC:7316"
                     /db_xref="MIM:147138"
                     /translation="MDTESNRRANLALPQEPSSVPAFEVLEISPQEVSSGRLLKSASSP
                     PLHTWLTVLKKEQEFLGVTQILTAMICLCFGTVVCSVLDISHIEGDIFSSFKAGYPFWG
                     AIFFSISGMLSIISERRNATYLVRGSLGANTASSIAGGTGITILIINLKKSLAYIHIHS
                     CQKFFETKCFMASFSTEIVVMMLFLTILGLGSAVSLTICGAGEELKGNKVPEDRVYEEL
                     NIYSATYSELEDPGEMSPPIDL"
     misc_feature    280..339
                     /gene="MS4A2"
                     /gene_synonym="APY; ATOPY; FCER1B; FCERI; IGEL; IGER;
                     IGHER"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01362.1);
                     transmembrane region"
     misc_feature    394..453
                     /gene="MS4A2"
                     /gene_synonym="APY; ATOPY; FCER1B; FCERI; IGEL; IGER;
                     IGHER"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01362.1);
                     transmembrane region"
     misc_feature    493..552
                     /gene="MS4A2"
                     /gene_synonym="APY; ATOPY; FCER1B; FCERI; IGEL; IGER;
                     IGHER"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01362.1);
                     transmembrane region"
     misc_feature    643..702
                     /gene="MS4A2"
                     /gene_synonym="APY; ATOPY; FCER1B; FCERI; IGEL; IGER;
                     IGHER"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01362.1);
                     transmembrane region"
     misc_feature    757..759
                     /gene="MS4A2"
                     /gene_synonym="APY; ATOPY; FCER1B; FCERI; IGEL; IGER;
                     IGHER"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P20490; propagated from
                     UniProtKB/Swiss-Prot (Q01362.1); phosphorylation site"
     misc_feature    775..777
                     /gene="MS4A2"
                     /gene_synonym="APY; ATOPY; FCER1B; FCERI; IGEL; IGER;
                     IGHER"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P20490; propagated from
                     UniProtKB/Swiss-Prot (Q01362.1); phosphorylation site"
     misc_feature    778..780
                     /gene="MS4A2"
                     /gene_synonym="APY; ATOPY; FCER1B; FCERI; IGEL; IGER;
                     IGHER"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P20490; propagated from
                     UniProtKB/Swiss-Prot (Q01362.1); phosphorylation site"
     misc_feature    787..789
                     /gene="MS4A2"
                     /gene_synonym="APY; ATOPY; FCER1B; FCERI; IGEL; IGER;
                     IGHER"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P20490; propagated from
                     UniProtKB/Swiss-Prot (Q01362.1); phosphorylation site"
     regulatory      3624..3629
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MS4A2"
                     /gene_synonym="APY; ATOPY; FCER1B; FCERI; IGEL; IGER;
                     IGHER"
                     /note="hexamer: AATAAA"
     polyA_site      3648
                     /gene="MS4A2"
                     /gene_synonym="APY; ATOPY; FCER1B; FCERI; IGEL; IGER;
                     IGHER"
                     /note="major polyA site"
ORIGIN
        1 aacccatttc aactgcctat tcagagcatg cagtaagagg aaatccacca agtctcaata
       61 taataatatt ctttattcct ggacagctcg gttaatgaaa aaatggacac agaaagtaat
      121 aggagagcaa atcttgctct cccacaggag ccttccagtg tgcctgcatt tgaagtcttg
      181 gaaatatctc cccaggaagt atcttcaggc agactattga agtcggcctc atccccacca
      241 ctgcatacat ggctgacagt tttgaaaaaa gagcaggagt tcctgggggt aacacaaatt
      301 ctgactgcta tgatatgcct ttgttttgga acagttgtct gctctgtact tgatatttca
      361 cacattgagg gagacatttt ttcatcattt aaagcaggtt atccattctg gggagccata
      421 tttttttcta tttctggaat gttgtcaatt atatctgaaa ggagaaatgc aacatatctg
      481 gtgagaggaa gcctgggagc aaacactgcc agcagcatag ctgggggaac gggaattacc
      541 atcctgatca tcaacctgaa gaagagcttg gcctatatcc acatccacag ttgccagaaa
      601 ttttttgaga ccaagtgctt tatggcttcc ttttccactg aaattgtagt gatgatgctg
      661 tttctcacca ttctgggact tggtagtgct gtgtcactca caatctgtgg agctggggaa
      721 gaactcaaag gaaacaaggt tccagaggat cgtgtttatg aagaattaaa catatattca
      781 gctacttaca gtgagttgga agacccaggg gaaatgtctc ctcccattga tttataagaa
      841 tcacgtgtcc agaacactct gattcacagc caaggatcca gaaggccaag gtcttgttaa
      901 ggggctactg gaaaaatttc tattctctcc acagcctgct ggttttacat tagatttatt
      961 cgcctgataa gaatattttg tttctgctgc ttctgtccac cttaatattc tccttctatt
     1021 tgtagatatg atagactcct atttttcttg ttttatatta tgaccacaca catctctgct
     1081 ggaaagtcaa catgtagtaa gcaagattta actgtttgat tataactgtg caaatacaga
     1141 aaaaaagaag gctggctgaa agttgagtta aactttgaca gtttgataat atttggttct
     1201 tagggttttt tttttttttt agcattctta atagttacag ttgggcatga tttgtaccat
     1261 ccacccatac ccacacagtc acagtcacac acacatatgt attacttaca ctatatataa
     1321 cttcctatgc aaatatttta ccaccagtca ataatacatt tttgccaaga catgaagttt
     1381 tataaagatc tgtataattg cctgaatcac cagcacattc actgacatga tattatttgc
     1441 agattgacaa gtaggaagtg gggaatttta ttaagttact cgttgtctgg ggaggtaaat
     1501 aggttaaaaa cagggaaatt ataagtgcag agattaacat ttcacaaatg tttagtgaaa
     1561 catttgtgaa aaaagaagac taaattaaga cctgagctga aataaagtga gtggaaatgg
     1621 aaataatggt tatatctaaa acatgtagaa aaagagtaac tggtagattt tgttaacaaa
     1681 ttaaagaata aagttagaca agcaactggt tgactaatac attaagcgtt tgagtctaag
     1741 atgaaaggag aacactggtt atgttgatag aatgataaaa agggtcgggc gcggaggctc
     1801 acgcctgtaa tcccagccct ttgggaggcc gaggtgggca gatcacgaag tcagtagttt
     1861 gagaccagcc tggccaacat agtgaaaccc cgtctctact aaaaatacaa aaaaaaaatt
     1921 agctgggtgt ggtggcagtc acctgtagtc ccagctactt gggaggctga ggcaggagaa
     1981 tcgcttcaac ctgggaggcg gaggttgcag tgagccgaga tcgcaccagt gcactccagc
     2041 cttggtgaca atgggagact ccatctcaaa aaaaaaaaaa aaaaaaaaaa agataaaaag
     2101 tcagaaatct gaaaagtgga ggaagagtac aaatagacct aaattaagct catttttagg
     2161 ctttgatttt ggggagacaa agggaaatgc agccatagag ggcctgatga catccaatac
     2221 agagttctgg taaagataaa atttgataca ggtttggtgt cattataaga gaaatcatta
     2281 ttaaatgaag caagttaaca ctctaagaga attattttga gatagaagtg aagctaagct
     2341 aaacttcaca tgcctataat tggagggaaa aactaaggat aaaatctagc ctagaagata
     2401 caataattag tcataaacat gcattgtgaa actgtagaga gcaggtagcc caaaatagag
     2461 aaagattaga taaagagaaa ataagtatcc atcagagaca gtatctctag gcttgggcaa
     2521 gagaaaagtc cacagtgata agcaactcca cctaaggcat gaatatgcgg cagagaaaac
     2581 agcaatagtg aatgaatgca aaaggtgctg agaaattcca cacatgagta ttgtgatgag
     2641 taaatgaata aaacatttgc aaagaccttt agagaaagag aatgggagca tatgtgagaa
     2701 ataagatagt tgattatgaa tagaaggtag tgaagaaaag caagctaaga aaaaattctg
     2761 tttataaaag aaggaaaaga tagtttatgt ttttagccta agtataagag tcctacagat
     2821 ggactgaaaa aaatcagtct gagagtatta gtcacaatta atgaaataat tacattttat
     2881 gtattgagga tgccaagatt aaaaggtgac aggtagatgt taatttccct agattgtgaa
     2941 agtgatcacg acaatcacac aacaaataat taagtgactt ggtatgcttt atttaattgt
     3001 agggcctgag gttttccatt ctcatttttc taaaatacaa ttttgtttct ccaaatttga
     3061 cagcagaata aaaaccctac cctttcactg tgtatcatgc taagctgcat ctctactctt
     3121 gatcatctgt aggtattaat cacatcactt ccatggcatg gatgttcaca tacagactct
     3181 taaccctggt ttaccaggac ctctaggagt ggatccaatc tatatcttta cagttgtata
     3241 gtatatgata tctcttttat ttcactcaat ttatattttc atcattgact acatatttct
     3301 tatacacaac acacaattta tgaatttttt ctcaagatca ttctgagagt tgccccaccc
     3361 tacctgcctt ttatagtatg cccacctcag gcagacacag agcacaatgc tggggttctc
     3421 ttcacactat cactgcccca aattgtcttt ctaaatttca acttcaatgt catcttctcc
     3481 atgaagacca ctgaatgaac accttttcat ccagccttaa tttcttgctc cataactact
     3541 ctatcccacg atgcagtatt gtatcattaa ttattagtgt gcttgtgacc tccttatgta
     3601 ttctcaatta cctgtatttg tgcaataaat tggaataatg taacttga
//
LOCUS       NM_000140               7689 bp    mRNA    linear   PRI 17-MAR-2023
DEFINITION  Homo sapiens ferrochelatase (FECH), transcript variant 2, mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_000140
VERSION     NM_000140.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7689)
  AUTHORS   Lanzafame M, Branca G, Landi C, Qiang M, Vaz B, Nardo T, Ferri D,
            Mura M, Iben S, Stefanini M, Peverali FA, Bini L and Orioli D.
  TITLE     Cockayne syndrome group A and ferrochelatase finely tune ribosomal
            gene transcription and its response to UV irradiation
  JOURNAL   Nucleic Acids Res 49 (19), 10911-10930 (2021)
   PUBMED   34581821
  REMARK    GeneRIF: Cockayne syndrome group A and ferrochelatase finely tune
            ribosomal gene transcription and its response to UV irradiation.
REFERENCE   2  (bases 1 to 7689)
  AUTHORS   Khayer N, Jalessi M, Jahanbakhshi A, Tabib Khooei A and Mirzaie M.
  TITLE     Nkx3-1 and Fech genes might be switch genes involved in pituitary
            non-functioning adenoma invasiveness
  JOURNAL   Sci Rep 11 (1), 20943 (2021)
   PUBMED   34686726
  REMARK    GeneRIF: Nkx3-1 and Fech genes might be switch genes involved in
            pituitary non-functioning adenoma invasiveness. Erratum:[Sci Rep.
            2021 Dec 14;11(1):24258. PMID: 34907222] Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 7689)
  AUTHORS   Saito A, Okiyama N, Inoue S, Kubota N, Nakamura Y, Ishitsuka Y,
            Watanabe R, Nakano H and Fujisawa Y.
  TITLE     Novel mutation of the ferrochelatase gene in a Japanese family with
            erythropoietic protoporphyria
  JOURNAL   J Dermatol 47 (4), e114-e116 (2020)
   PUBMED   32056258
  REMARK    GeneRIF: Novel mutation of the ferrochelatase gene in a Japanese
            family with erythropoietic protoporphyria.
REFERENCE   4  (bases 1 to 7689)
  AUTHORS   Chiara M, Primon I, Tarantini L, Agnelli L, Brancaleoni V, Granata
            F, Bollati V and Di Pierro E.
  TITLE     Targeted resequencing of FECH locus reveals that a novel deep
            intronic pathogenic variant and eQTLs may cause erythropoietic
            protoporphyria (EPP) through a methylation-dependent mechanism
  JOURNAL   Genet Med 22 (1), 35-43 (2020)
   PUBMED   31273344
  REMARK    GeneRIF: Study reports evidence of a deep intronic variant causing
            erythropoietic protoporphyria. The c.464-1169 A>C intronic
            substitution (p.Ala155ValfsTer22) disrupts, likely through the
            institution of new methylated CpG site, an exonic splicing silencer
            site causing the insertion of a 'cryptic exon' containing a stop
            codon, in the mature FECH transcript.
REFERENCE   5  (bases 1 to 7689)
  AUTHORS   Balwani M, Bloomer J and Desnick R.
  CONSRTM   Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical
            Research Network
  TITLE     Erythropoietic Protoporphyria, Autosomal Recessive
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   23016163
REFERENCE   6  (bases 1 to 7689)
  AUTHORS   Brenner DA, Didier JM, Frasier F, Christensen SR, Evans GA and
            Dailey HA.
  TITLE     A molecular defect in human protoporphyria
  JOURNAL   Am J Hum Genet 50 (6), 1203-1210 (1992)
   PUBMED   1376018
REFERENCE   7  (bases 1 to 7689)
  AUTHORS   Nakahashi Y, Fujita H, Taketani S, Ishida N, Kappas A and Sassa S.
  TITLE     The molecular defect of ferrochelatase in a patient with
            erythropoietic protoporphyria
  JOURNAL   Proc Natl Acad Sci U S A 89 (1), 281-285 (1992)
   PUBMED   1729699
REFERENCE   8  (bases 1 to 7689)
  AUTHORS   Nakahashi Y, Taketani S, Okuda M, Inoue K and Tokunaga R.
  TITLE     Molecular cloning and sequence analysis of cDNA encoding human
            ferrochelatase
  JOURNAL   Biochem Biophys Res Commun 173 (2), 748-755 (1990)
   PUBMED   2260980
REFERENCE   9  (bases 1 to 7689)
  AUTHORS   Buller,R.E., Schrader,W.T. and O'Maller,B.W.
  TITLE     Steroids and the practical aspects of performing binding studies
  JOURNAL   J Steroid Biochem 7 (5), 321-326 (1976)
   PUBMED   180343
REFERENCE   10  (bases 1 to 7689)
  AUTHORS   Bonkowsky,H.L., Bloomer,J.R., Ebert,P.S. and Mahoney,M.J.
  TITLE     Heme synthetase deficiency in human protoporphyria. Demonstration of
            the defect in liver and cultured skin fibroblasts
  JOURNAL   J Clin Invest 56 (5), 1139-1148 (1975)
   PUBMED   1184741
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX571744.1, BC039841.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000262093.11/ ENSP00000262093.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC100847.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 15, 2019 this sequence version replaced NM_000140.4.
            Summary: The protein encoded by this gene is localized to the
            mitochondrion, where it catalyzes the insertion of the ferrous form
            of iron into protoporphyrin IX in the heme synthesis pathway.
            Mutations in this gene are associated with erythropoietic
            protoporphyria. Two transcript variants encoding different isoforms
            have been found for this gene. A pseudogene of this gene is found
            on chromosome 3.[provided by RefSeq, May 2010].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7689
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.31"
     gene            1..7689
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
                     /note="ferrochelatase"
                     /db_xref="GeneID:2235"
                     /db_xref="HGNC:HGNC:3647"
                     /db_xref="MIM:612386"
     CDS             83..1354
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
                     /EC_number="4.98.1.1"
                     /note="isoform b precursor is encoded by transcript variant
                     2; protoporphyria; protoheme ferro-lyase; heme synthetase;
                     ferrochelatase, mitochondrial; heme synthase"
                     /codon_start=1
                     /product="ferrochelatase, mitochondrial isoform b
                     precursor"
                     /protein_id="NP_000131.2"
                     /db_xref="CCDS:CCDS11964.1"
                     /db_xref="GeneID:2235"
                     /db_xref="HGNC:HGNC:3647"
                     /db_xref="MIM:612386"
                     /translation="MRSLGANMAAALRAAGVLLRDPLASSSWRVCQPWRWKSGAAAAAV
                     TTETAQHAQGAKPQVQPQKRKPKTGILMLNMGGPETLGDVHDFLLRLFLDRDLMTLPIQ
                     NKLAPFIAKRRTPKIQEQYRRIGGGSPIKIWTSKQGEGMVKLLDELSPNTAPHKYYIGF
                     RYVHPLTEEAIEEMERDGLERAIAFTQYPQYSCSTTGSSLNAIYRYYNQVGRKPTMKWS
                     TIDRWPTHHLLIQCFADHILKELDHFPLEKRSEVVILFSAHSLPMSVVNRGDPYPQEVS
                     ATVQKVMERLEYCNPYRLVWQSKVGPMPWLGPQTDESIKGLCERGRKNILLVPIAFTSD
                     HIETLYELDIEYSQVLAKECGVENIRRAESLNGNPLFSKALADLVHSHIQSNELCSKQL
                     TLSCPLCVNPVCRETKSFFTSQQL"
     transit_peptide 83..244
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
                     /note="Mitochondrion. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P22830.2)"
     mat_peptide     245..1351
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
                     /product="Ferrochelatase, mitochondrial.
                     /id=PRO_0000008873"
                     /note="propagated from UniProtKB/Swiss-Prot (P22830.2)"
     misc_feature    251..253
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P22315; propagated from
                     UniProtKB/Swiss-Prot (P22830.2); acetylation site"
     misc_feature    1325..1327
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P22315; propagated from
                     UniProtKB/Swiss-Prot (P22830.2); acetylation site"
     regulatory      2531..2536
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
                     /note="hexamer: ATTAAA"
     polyA_site      2558
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
                     /note="major polyA site"
     regulatory      2708..2713
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
                     /note="hexamer: AATAAA"
     polyA_site      2726
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
     regulatory      3738..3743
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
                     /note="hexamer: AATAAA"
     polyA_site      3758
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
     regulatory      6796..6801
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
                     /note="hexamer: ATTAAA"
     polyA_site      6818
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
     regulatory      7202..7207
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
                     /note="hexamer: AACAAA"
     polyA_site      7221
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
     regulatory      7656..7661
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
                     /note="hexamer: AGTAAA"
     polyA_site      7689
                     /gene="FECH"
                     /gene_synonym="EPP; EPP1; FCE"
ORIGIN
        1 acccggctcg gccactgctg ggcggacacc tgggcgcgcc gccgcgggag gagcccggac
       61 tcgggccgag gctgcccagg caatgcgttc actcggcgca aacatggctg cggccctgcg
      121 cgccgcgggc gtcctgctcc gcgatccgct ggcatccagc agctggaggg tctgtcagcc
      181 atggaggtgg aagtcaggtg cagctgcagc ggccgtcacc acagaaacag cccagcatgc
      241 ccagggtgca aaacctcaag ttcaaccgca gaagaggaag ccgaaaactg gaatattaat
      301 gctaaacatg ggaggccctg aaactcttgg agatgttcac gacttccttc tgagactctt
      361 cttggaccga gacctcatga cacttcctat tcagaataag ctggcaccat tcatcgccaa
      421 acgccgaacc cccaagattc aagagcagta ccgcaggatt ggaggcggat cccccatcaa
      481 gatatggact tccaagcagg gagagggcat ggtgaagctg ctggatgaat tgtcccccaa
      541 cacagcccct cacaaatact atattggatt tcggtacgtc catcctttaa cagaagaagc
      601 aattgaagag atggagagag atggcctaga aagggctatt gctttcacac agtatccaca
      661 gtacagctgc tccaccacag gcagcagctt aaatgccatt tacagatact ataatcaagt
      721 gggacggaag cccacgatga agtggagcac tattgacagg tggcccacac atcacctcct
      781 catccagtgc tttgcagatc atattctaaa ggaactggac cattttccac ttgagaagag
      841 aagcgaggtg gtcattctgt tttctgctca ctcactgccc atgtctgtgg tcaacagagg
      901 cgacccatat cctcaggagg taagcgccac tgtccaaaaa gtcatggaaa ggctggagta
      961 ctgcaacccc taccgactgg tgtggcaatc caaggttggt ccaatgccct ggttgggtcc
     1021 tcaaacagac gaatctatca aagggctttg tgagaggggg aggaagaata tcctcttggt
     1081 tccgatagca tttaccagtg accatattga aacgctgtat gagctggaca tcgagtactc
     1141 tcaagtttta gccaaggagt gtggagttga aaacatcaga agagctgagt ctcttaatgg
     1201 aaatccattg ttctctaagg ccctggccga cttggtgcat tcacacatcc agtcaaacga
     1261 gctgtgttcc aagcagctga ccctgagctg tccgctctgt gtcaatcctg tctgcaggga
     1321 gactaaatcc ttcttcacca gccagcagct gtgacccccg ccggtggacc ccgtggcgtt
     1381 aggcaaatgc ccaacctcca gatacctccg atgtggagag ggtgttattt agagatcaag
     1441 gaaggaagtc atccttcctt gatatatata cagcctttgg gtacaaattg tgtggtttct
     1501 tgaggattgg actcttgatg gatttctatt tttatataac tatacagtaa gcatttgtat
     1561 tttctctctc taggtataag ttactagttt ggaatgtcca tcaggacctt taataaatga
     1621 gttaaaaatt tgtcttatga gacacaccta tttaagtaca gattttggct ttattgccca
     1681 aaaccctcct gaaagggtac ggagagtccc ctctgtgggc tggcagtgtg aatgagatct
     1741 gtttagtctc gtgcatatag ttgctgtttt ttaaatgaac acagttgagt atttgaagtg
     1801 aatttgaaaa agaaatgtta cttaatcttt ccctaagccc atgggttaca gaatgctagg
     1861 gaggcaattt ggttacctgc aatggctgct tttgccagcg aggccaccat tcattggtca
     1921 tcttggtatt tgtgtgtgaa tctcactttc ctcaatgtaa aaaggaatca agtatggatt
     1981 tcagaggtgc tcttagattc cccatacacc caagggtaat aaacgtgtac aagtacagtg
     2041 ttcatgatac gtgccttggt gggagtccgt ggtgccacag ggaaggggct cccactgctt
     2101 ctggtctcca gggacagtgc tgctggaaag gctagtgatg agcttcaccc tggagctcct
     2161 cccgggacct tgcaagcctc tccatccagc atcttctcta tcttagttga atgccttctt
     2221 tctgaacatt tgttttaaga attattttat aaagtcaaca atactttgct tgaattcttt
     2281 cttaatttac gattttttat tataaaaatg tatagtgata caatgggaca tgtgaagaat
     2341 acagaaaagt aaccacttta atgcaataac tgttatcata atattgtatt tcgtggtagt
     2401 cctttcctgt agatattttt aatgccattt aatgccattg tcaccttgga tttatgagtg
     2461 aaaagtgttt ctaaaaatat agaaataatg tcagatcaga gtctgatctt ctatgtttgt
     2521 atttaaatgg attaaaagat ccccggtggt tccatgaaga atttgtaaag atcactttct
     2581 ctttcctcca agccctgaaa ctttgttctt caaaagagcg tttctttttt tttttttttt
     2641 tagccagttt ataaagtgga agtattagga gattcataaa tcttctatat tgagaattgg
     2701 ctatgttaat aaatattaca acatcattaa ggttttagct aagtttgatt catgctgtct
     2761 gttaaatcaa aactgatcta aatcagaatt attaaatgtg aggagctttt ttaatacagg
     2821 aaaagaaaca tgtcatccac ttgagttaat agttttccta cgttgatgac agccctcatg
     2881 agtagcatcc acatttttaa aatttcaaat tggtttttct actagtagat tgtgtttcta
     2941 gagaaagata caaggcatag gtgattgttt aggattttcc tctagccttt gccattacct
     3001 ttttggggat gaggttcaca gtagactttg agtgaccgtc ccaccgtgaa gtgaattctc
     3061 tgagctggtg gtgtggtgct ggaaggaagg ttatttttgg agccactctc tccccttaag
     3121 gatatttccc aagggcctgc ttcaattctt tgatgacttt agaggtgaaa aaatattttt
     3181 atggagatga tgcagaaaac tccaattcag gagcccttgc gagtatatct gaagcactta
     3241 tttgctaagg aaacctgaat tgatagcagt actgtgctgt ctggaataat gtccttgata
     3301 ctgagttggg accagactgg cttttatagt gacaggcaaa gaggaattta ttgagatcac
     3361 tgctcatggc atttgttgct gtaagaagtg ttgcctttga ttgttactaa ccacggatgg
     3421 gtaacggtca tacattaggc tagtgtttgg taggacaaaa tctttttaga gctttgagaa
     3481 ttgtcatcct gttggtcaac tttgaaatac aaatgtttgc cctggtaatt agcaatgaac
     3541 tgctggcagt ttcttcagct gtgtatatac ggatctggct tttaattgat gaatcaactt
     3601 ctacagaaac ttttgcaggg acagtgttga tgaggcagtt tagcttgcca gggtgatgat
     3661 aaagcccagg tccctgcatg tatagtgctc ttctaaagaa tatgcattct tgaactactt
     3721 aactttttaa aaatcacaat aaatttttgc actcaaaatt tgcttcgtat caggagaaat
     3781 gaactcattg ttttgttttg tttttttttt tttttaagat ggagtcttgc tatgtcaccc
     3841 aggctggagg gcagtggtgc gatctcggct cactgctact tccacctcct gggctcaagt
     3901 gatcctccca cctcagcctc caagtagctg ggactacagg agtgcttcac cacgctgggc
     3961 tactttttta tattttttgt agagatgggg ttttgccatg ttgtccaggc tggtcttgaa
     4021 ctcctgggct caagggattc tcctgcctca gtctcccaaa gtgctgggat tacaaggatg
     4081 agcctctgca cctggccctg aactcattat taaaagccct ttaaatgtga ggctgggtgc
     4141 cgtgccttac atgtgtaatt ccaatacttt ggaaggccaa ggttggagga ttgcttgatc
     4201 ccaagagttc aagaccagcc tgggcaacat agggagaccc tgactctaca aaaaataaag
     4261 taaaaattaa ctgggtgtag tgtcacatgc ctgtagttcc agctacttag gaggctgagg
     4321 tggtaggatt gcttgagccc agcagtttga ggttgcagtg aggtgtgatt gcaccactgc
     4381 actccagcct gggtgacaga ggaagaccct gtcccaaaac caaaaaaaag aaaagaaata
     4441 cagagactgg gtcatttaca aaggaaagag gtttaattga ctcggttcgg ctttctgagg
     4501 aagccttagg aaattgacaa tcatggcaga aggggaagca gatgtcttac atggcagtga
     4561 gtgagagcaa gcaaagggga agagccccct tataaaacca tcagatctcg tgagaactgg
     4621 ctgtcacaag aacagcatgg gggaactgtc tccatgttcc aatctccttc caccaggtcc
     4681 ctccctcaac acgtggggat tatggggatt acaatttgaa atgagatttg ggtggggaac
     4741 agagccaaat catatcattc caccctggcc cctcccaaat cacatgtcct ttttacattt
     4801 caaaaccaat catgccttca caacagtcct ccagagtctt aactcattcc agcattaacc
     4861 caaaagtcca agttcaaagt ctcatccaag acaaggcaag tcccttctgc ctgtgagcct
     4921 gtaacattaa aagcaagtta gtgacttcca agatacaatg ggagtacaga cattggtaaa
     4981 tgttcccatt ccaaatggga gaaattggcc aaaacacagg ggctacaggc cccatgcacc
     5041 actgcactcc actgtgcaag tctgaaaccc ggcagggcac tccttaaatt tttttttttt
     5101 ttttttgaga tggagtctcg ctctgttgcc caagctggag tacagtggca cgatctcggc
     5161 tcactgcaac ctccgcctct tgggttcaaa ggatcatcct gcctcagcct ccggagtagc
     5221 tgggctactc aggcgtgtgc caccatgccc ggctaatttt tgtattttta gtagagatgg
     5281 ggcctgacca tgttggtcag gctggtctct aattcctgac ctcgtgatcc acccgcctca
     5341 gcctctgaaa gtgttgggat tacaggcgtg agccaccatc cccggcctac tcaataaatc
     5401 ttaaagttcc ggaataatct cctttgactc catgtctcac ctccaggtca cgctgatgca
     5461 agaggtgggc taatctttct agtaaattcc atatttaatt caagaaacca taacttaagg
     5521 catgtaaaag agatcctttg ctcaatgtga tgccattgtg cttatccaaa gtatattatt
     5581 attacccaca aagggtgaga gattaggctg cagccatacc ccaagtggag tgagcagcaa
     5641 gacctgcccc ctgctcagag tgtagatgac tgggggcacc tgcattccta ggggctctgc
     5701 cgtatgagct cctgtcgatg cggcaaagga ccaccttgcc caacgacagc gggaaggcag
     5761 aatttaaagc tggcagctgt aagcgaacgt ctatgtgtgc gcacgggggc acgtgaaggc
     5821 acaggtgcat cagccaagaa cctccaattc acctcttaac cttctcacct cacctgaaac
     5881 cccttctgcc agaatcctga aggtggccca ggaacagggc tcctaacgtt aggtggaaat
     5941 gggaaattca ttgagatgtc acaagctgga ataagaaaat tctgagctca cccggaaact
     6001 aatgccctaa attaagatta ttcagcttct caatttttaa tagcaaaatg gagacctgag
     6061 tgtggataac ttttagtatc tgtgggggat cctggaacca attccctgcc aatatagaag
     6121 gacaactgtc tacagtactt gaagtattat taactacatt cgccatgctg tatgttagat
     6181 ccccagaaca tatttatcct gcatatctaa aattttgatc attttacaaa ctttctattt
     6241 tttttgtcaa ttttctccag ctagacactt gtgcaatacg gctattatct gatctttgcc
     6301 ttaaatgttg tgcttctttt ccatatgcac gtattttgca aaatataaag tgtgtagagc
     6361 tatatagcac tcagccaagt ggtgggtacc tgcaggtgct tcagagaagt aaattgatgc
     6421 tgctaatatt tgttgaatgg cacgaatatg atgagcaata gcaggtggtg cccttcagcc
     6481 agaccatcgc tccgtgcgtc tgatgcatct tgccaaagag tagttctggg aggtggttgc
     6541 ctctagagaa cacattcctc ctattctggg gtcccgtgag agaaagaaat gcttttgctt
     6601 ttgatgtggg actcttacta agcctttctt cagagaaaag gaagtgaaaa atgcacccca
     6661 tgataatcag tttcttacaa catactgtga tagtaccggc ttcgttgttt ttagctggaa
     6721 tcattagctt ccatttttag aataacagct attggctaaa ttaggctaca gtaggccatt
     6781 aagatggatg ttggaattaa aaacattttt ggaaaaaagc ctgctttgag cctttgttat
     6841 aagcccttgg gtagagatct gggtcctgtt tctgatttct tgtgagcctt cactctgaca
     6901 gttttgtttc cagaaacaca ctcttagcct gctcctgaaa tgggaacaga caggccaact
     6961 tcccctctcc agtctcccct gcgggtcaaa gctttacttt cctgtcatgt taagaaagaa
     7021 tagatttaac cttgataatc catgtagtat tctgtatttt taccttttcc ttatctgaaa
     7081 aaaagtgtat atatggcatg gaattgattg cacaggcaca tggcatgttg gcttgtgaac
     7141 caattgttaa aatttcaagt taatcattaa aataatatct ttcaaattaa gttatattaa
     7201 aaacaaaggt aacattctaa attcattact ttctaattat ttcgcccttt tttttgtcgt
     7261 tgattattta gacttaagaa agtgatggga aaaacgttaa taacacagta cataagttgt
     7321 ttctgtagcc attacactgt gattttcaca aacacttgaa cacttgaata gtcttccatt
     7381 atttgaaaac tattattcaa cttatccaag tgaagtattg gcatacaaag aagttgtttc
     7441 atatttgcat tgctcatgaa tgtaaacaaa atgtcgatat gtgtgaacta tacttgttga
     7501 tcaattgcaa ccataggttg gctgcagatg cgagagcttg gtaaacatca acaaaagcat
     7561 tctctgagaa tgaattgact atatggaatt tgtaggaaag tgtattgtgt attttattat
     7621 tatttgtaaa ttgtgtattc cacatctttt agattagtaa aatttatagt aaacatactc
     7681 tcacaccta
//
LOCUS       NM_000141               4624 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript
            variant 1, mRNA.
ACCESSION   NM_000141
VERSION     NM_000141.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4624)
  AUTHORS   Alshahrany N, Begum A, Siebzehnrubl D, Jimenez-Pascual A and
            Siebzehnrubl FA.
  TITLE     Spatial distribution and functional relevance of FGFR1 and FGFR2
            expression for glioblastoma tumor invasion
  JOURNAL   Cancer Lett 571, 216349 (2023)
   PUBMED   37579831
  REMARK    GeneRIF: Spatial distribution and functional relevance of FGFR1 and
            FGFR2 expression for glioblastoma tumor invasion.
REFERENCE   2  (bases 1 to 4624)
  AUTHORS   Ge B, Lin Y, Shi B and Jia Z.
  TITLE     Integrating transcriptomics and genomics to identify fibroblast
            growth factor/receptor candidate genes for non-syndromic orofacial
            cleft in Chinese
  JOURNAL   Arch Oral Biol 153, 105750 (2023)
   PUBMED   37348362
  REMARK    GeneRIF: Integrating transcriptomics and genomics to identify
            fibroblast growth factor/receptor candidate genes for non-syndromic
            orofacial cleft in Chinese.
REFERENCE   3  (bases 1 to 4624)
  AUTHORS   Oeurn K, Jusakul A, Jaidee R, Kukongviriyapan V, Senggunprai L,
            Prawan A and Kongpetch S.
  TITLE     FGF10/FGFR2 Signaling: Therapeutically Targetable Vulnerability in
            Ligand-responsive Cholangiocarcinoma Cells
  JOURNAL   In Vivo 37 (4), 1628-1637 (2023)
   PUBMED   37369494
  REMARK    GeneRIF: FGF10/FGFR2 Signaling: Therapeutically Targetable
            Vulnerability in Ligand-responsive Cholangiocarcinoma Cells.
REFERENCE   4  (bases 1 to 4624)
  AUTHORS   Wenger,T.L., Hing,A.V. and Evans,K.N.
  TITLE     Apert Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   31145570
REFERENCE   5  (bases 1 to 4624)
  AUTHORS   Wenger,T., Miller,D. and Evans,K.
  TITLE     FGFR Craniosynostosis Syndromes Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301628
REFERENCE   6  (bases 1 to 4624)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301533
REFERENCE   7  (bases 1 to 4624)
  AUTHORS   Dell KR and Williams LT.
  TITLE     A novel form of fibroblast growth factor receptor 2. Alternative
            splicing of the third immunoglobulin-like domain confers ligand
            binding specificity
  JOURNAL   J Biol Chem 267 (29), 21225-21229 (1992)
   PUBMED   1400433
REFERENCE   8  (bases 1 to 4624)
  AUTHORS   Luqmani YA, Graham M and Coombes RC.
  TITLE     Expression of basic fibroblast growth factor, FGFR1 and FGFR2 in
            normal and malignant human breast, and comparison with other normal
            tissues
  JOURNAL   Br J Cancer 66 (2), 273-280 (1992)
   PUBMED   1380281
REFERENCE   9  (bases 1 to 4624)
  AUTHORS   Katoh M, Hattori Y, Sasaki H, Tanaka M, Sugano K, Yazaki Y, Sugimura
            T and Terada M.
  TITLE     K-sam gene encodes secreted as well as transmembrane receptor
            tyrosine kinase
  JOURNAL   Proc Natl Acad Sci U S A 89 (7), 2960-2964 (1992)
   PUBMED   1313574
REFERENCE   10  (bases 1 to 4624)
  AUTHORS   Miki T, Bottaro DP, Fleming TP, Smith CL, Burgess WH, Chan AM and
            Aaronson SA.
  TITLE     Determination of ligand-binding specificity by alternative splicing:
            two distinct growth factor receptors encoded by a single gene
  JOURNAL   Proc Natl Acad Sci U S A 89 (1), 246-250 (1992)
   PUBMED   1309608
COMMENT     ##Evidence-Data-START##
            Transcript exon combination      :: M87770.1, X52832.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: community standard (PMID:
            15863034)
            MANE Ensembl match :: ENST00000358487.10/ ENSP00000351276.6
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC039243.1, CN345547.1,
            M87770.1, CX873387.1, BC037338.2 and CB305736.1.
            On Nov 1, 2019 this sequence version replaced NM_000141.4.
            Summary: The protein encoded by this gene is a member of the
            fibroblast growth factor receptor family, where amino acid sequence
            is highly conserved between members and throughout evolution. FGFR
            family members differ from one another in their ligand affinities
            and tissue distribution. A full-length representative protein
            consists of an extracellular region, composed of three
            immunoglobulin-like domains, a single hydrophobic membrane-spanning
            segment and a cytoplasmic tyrosine kinase domain. The extracellular
            portion of the protein interacts with fibroblast growth factors,
            setting in motion a cascade of downstream signals, ultimately
            influencing mitogenesis and differentiation. This particular family
            member is a high-affinity receptor for acidic, basic and/or
            keratinocyte growth factor, depending on the isoform. Mutations in
            this gene are associated with Crouzon syndrome, Pfeiffer syndrome,
            Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome,
            Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome,
            and syndromic craniosynostosis. Multiple alternatively spliced
            transcript variants encoding different isoforms have been noted for
            this gene. [provided by RefSeq, Jan 2009].
            Transcript Variant: This variant (1) encodes isoform 1, also
            referred to as isoform BEK and K-sam.
            Sequence Note: A downstream AUG translation start codon is selected
            for this RefSeq based on the presence of a strong Kozak consensus
            signal, a strong community standard for the use of the downstream
            start codon, and on a higher probability of an N-terminal signal
            peptide being present in the resulting protein. The use of an
            alternative in-frame upstream AUG start codon would result in a
            protein that is 19 aa longer at the N-terminus. Translation from
            the annotated downstream start codon is likely to occur via leaky
            scanning and/or reinitiation.
            CCDS Note: A downstream AUG translation start codon is selected for
            this CCDS representation based on a strong community standard for
            its use, and on a higher probability of a signal peptide being
            present in the protein N-terminus. The use of an alternative
            upstream AUG start codon would result in a protein that is 19 aa
            longer at the N-terminus. The upstream AUG has a weak Kozak signal
            while the downstream AUG has a strong Kozak signal. Due to leaky
            scanning by ribosomes, it is possible that some ribosomes may
            initiate translation from the downstream AUG codon while others
            start from the upstream AUG. The presence of multiple upstream ORFs
            suggests that a combination of leaky scanning and translational
            reinitiation may be necessary to achieve translation of the
            annotated ORF.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4624
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.13"
     gene            1..4624
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="fibroblast growth factor receptor 2"
                     /db_xref="GeneID:2263"
                     /db_xref="HGNC:HGNC:3689"
                     /db_xref="MIM:176943"
     misc_feature    517..519
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="upstream in-frame stop codon"
     misc_feature    577..579
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MGLTSTWRYGRGPGIGTVT"
     CDS             634..3099
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /EC_number="2.7.10.1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; protein tyrosine kinase, receptor like 14;
                     bacteria-expressed kinase; keratinocyte growth factor
                     receptor; BEK fibroblast growth factor receptor"
                     /codon_start=1
                     /product="fibroblast growth factor receptor 2 isoform 1
                     precursor"
                     /protein_id="NP_000132.3"
                     /db_xref="CCDS:CCDS31298.1"
                     /db_xref="GeneID:2263"
                     /db_xref="HGNC:HGNC:3689"
                     /db_xref="MIM:176943"
                     /translation="MVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQIS
                     QPEVYVAAPGESLEVRCLLKDAAVISWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGL
                     YACTASRTVDSETWYFMVNVTDAISSGDDEDDTDGAEDFVSENSNNKRAPYWTNTEKME
                     KRLHAVPAANTVKFRCPAGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVV
                     PSDKGNYTCVVENEYGSINHTYHLDVVERSPHRPILQAGLPANASTVVGGDVEFVCKVY
                     SDAQPHIQWIKHVEKNGSKYGPDGLPYLKVLKAAGVNTTDKEIEVLYIRNVTFEDAGEY
                     TCLAGNSIGISFHSAWLTVLPAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCR
                     MKNTTKKPDFSSQPAVHKLTKRIPLRRQVTVSAESSSSMNSNTPLVRITTRLSSTADTP
                     MLAGVSEYELPEDPKWEFPRDKLTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVK
                     MLKDDATEKDLSDLVSEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYL
                     RARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLASQKCIHRDLAARNVLVT
                     ENNVMKIADFGLARDINNIDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMW
                     EIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCTNELYMMMRDCWHAVPSQRPTFKQL
                     VEDLDRILTLTTNEEYLDLSQPLEQYSPSYPDTRSSCSSGDDSVFSPDPMPYEPCLPQY
                     PHINGSVKT"
     sig_peptide     634..696
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     697..3096
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /product="Fibroblast growth factor receptor 2.
                     /id=PRO_0000016783"
                     /note="propagated from UniProtKB/Swiss-Prot (P21802.1)"
     misc_feature    880..882
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P21802.1); glycosylation site"
     misc_feature    1000..1002
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P21802.1); glycosylation site"
     misc_feature    1024..1086
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="propagated from UniProtKB/Swiss-Prot (P21802.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1114..1167
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="propagated from UniProtKB/Swiss-Prot (P21802.1);
                     Region: Heparin-binding"
     misc_feature    1315..1317
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P21802.1); glycosylation site"
     misc_feature    1354..1356
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P21802.1); glycosylation site"
     misc_feature    1426..1428
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P21802.1); glycosylation site"
     misc_feature    1522..1524
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P21802.1); glycosylation site"
     misc_feature    1585..1587
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P21802.1); glycosylation site"
     misc_feature    1624..1626
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P21802.1); glycosylation site"
     misc_feature    1765..1827
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="propagated from UniProtKB/Swiss-Prot (P21802.1);
                     transmembrane region"
     misc_feature    2029..2031
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:19060208,
                     ECO:0000269|PubMed:19410646; propagated from
                     UniProtKB/Swiss-Prot (P21802.1); phosphorylation site"
     misc_feature    2389..2391
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:17803937,
                     ECO:0000269|PubMed:19060208, ECO:0000269|PubMed:19410646;
                     propagated from UniProtKB/Swiss-Prot (P21802.1);
                     phosphorylation site"
     misc_feature    2395..2397
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:19060208,
                     ECO:0000269|PubMed:19410646; propagated from
                     UniProtKB/Swiss-Prot (P21802.1); phosphorylation site"
     misc_feature    2599..2601
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:17803937,
                     ECO:0000269|PubMed:19060208, ECO:0000269|PubMed:19410646;
                     propagated from UniProtKB/Swiss-Prot (P21802.1);
                     phosphorylation site"
     misc_feature    2602..2604
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:17803937,
                     ECO:0000269|PubMed:19060208, ECO:0000269|PubMed:19410646;
                     propagated from UniProtKB/Swiss-Prot (P21802.1);
                     phosphorylation site"
     misc_feature    2938..2940
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:15629145,
                     ECO:0000269|PubMed:19060208; propagated from
                     UniProtKB/Swiss-Prot (P21802.1); phosphorylation site"
     misc_feature    2971..2973
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P21802.1); phosphorylation site"
     regulatory      3714..3719
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="hexamer: AATAAA"
     polyA_site      3738
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="major polyA site"
     regulatory      4556..4561
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="hexamer: AATAAA"
     regulatory      4596..4601
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="hexamer: AATAAA"
     polyA_site      4597
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
                     /note="major polyA site"
     polyA_site      4624
                     /gene="FGFR2"
                     /gene_synonym="BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1;
                     JWS; K-SAM; KGFR; TK14; TK25"
ORIGIN
        1 gagagcgcgg tggagagccg agcgggcggg cggcgggtgc ggagcgggcg agggagcgcg
       61 cgcggccgcc acaaagctcg ggcgccgcgg ggctgcatgc ggcgtacctg gcccggcgcg
      121 gcgactgctc tccgggctgg cgggggccgg ccgcgagccc cgggggcccc gaggccgcag
      181 cttgcctgcg cgctctgagc cttcgcaact cgcgagcaaa gtttggtgga ggcaacgcca
      241 agcctgagtc ctttcttcct ctcgttcccc aaatccgagg gcagcccgcg ggcgtcatgc
      301 ccgcgctcct ccgcagcctg gggtacgcgt gaagcccggg aggcttggcg ccggcgaaga
      361 cccaaggacc actcttctgc gtttggagtt gctccccgca accccgggct cgtcgctttc
      421 tccatcccga cccacgcggg gcgcggggac aacacaggtc gcggaggagc gttgccattc
      481 aagtgactgc agcagcagcg gcagcgcctc ggttcctgag cccaccgcag gctgaaggca
      541 ttgcgcgtag tccatgcccg tagaggaagt gtgcagatgg gattaacgtc cacatggaga
      601 tatggaagag gaccggggat tggtaccgta accatggtca gctggggtcg tttcatctgc
      661 ctggtcgtgg tcaccatggc aaccttgtcc ctggcccggc cctccttcag tttagttgag
      721 gataccacat tagagccaga agagccacca accaaatacc aaatctctca accagaagtg
      781 tacgtggctg cgccagggga gtcgctagag gtgcgctgcc tgttgaaaga tgccgccgtg
      841 atcagttgga ctaaggatgg ggtgcacttg gggcccaaca ataggacagt gcttattggg
      901 gagtacttgc agataaaggg cgccacgcct agagactccg gcctctatgc ttgtactgcc
      961 agtaggactg tagacagtga aacttggtac ttcatggtga atgtcacaga tgccatctca
     1021 tccggagatg atgaggatga caccgatggt gcggaagatt ttgtcagtga gaacagtaac
     1081 aacaagagag caccatactg gaccaacaca gaaaagatgg aaaagcggct ccatgctgtg
     1141 cctgcggcca acactgtcaa gtttcgctgc ccagccgggg ggaacccaat gccaaccatg
     1201 cggtggctga aaaacgggaa ggagtttaag caggagcatc gcattggagg ctacaaggta
     1261 cgaaaccagc actggagcct cattatggaa agtgtggtcc catctgacaa gggaaattat
     1321 acctgtgtag tggagaatga atacgggtcc atcaatcaca cgtaccacct ggatgttgtg
     1381 gagcgatcgc ctcaccggcc catcctccaa gccggactgc cggcaaatgc ctccacagtg
     1441 gtcggaggag acgtagagtt tgtctgcaag gtttacagtg atgcccagcc ccacatccag
     1501 tggatcaagc acgtggaaaa gaacggcagt aaatacgggc ccgacgggct gccctacctc
     1561 aaggttctca aggccgccgg tgttaacacc acggacaaag agattgaggt tctctatatt
     1621 cggaatgtaa cttttgagga cgctggggaa tatacgtgct tggcgggtaa ttctattggg
     1681 atatcctttc actctgcatg gttgacagtt ctgccagcgc ctggaagaga aaaggagatt
     1741 acagcttccc cagactacct ggagatagcc atttactgca taggggtctt cttaatcgcc
     1801 tgtatggtgg taacagtcat cctgtgccga atgaagaaca cgaccaagaa gccagacttc
     1861 agcagccagc cggctgtgca caagctgacc aaacgtatcc ccctgcggag acaggtaaca
     1921 gtttcggctg agtccagctc ctccatgaac tccaacaccc cgctggtgag gataacaaca
     1981 cgcctctctt caacggcaga cacccccatg ctggcagggg tctccgagta tgaacttcca
     2041 gaggacccaa aatgggagtt tccaagagat aagctgacac tgggcaagcc cctgggagaa
     2101 ggttgctttg ggcaagtggt catggcggaa gcagtgggaa ttgacaaaga caagcccaag
     2161 gaggcggtca ccgtggccgt gaagatgttg aaagatgatg ccacagagaa agacctttct
     2221 gatctggtgt cagagatgga gatgatgaag atgattggga aacacaagaa tatcataaat
     2281 cttcttggag cctgcacaca ggatgggcct ctctatgtca tagttgagta tgcctctaaa
     2341 ggcaacctcc gagaatacct ccgagcccgg aggccacccg ggatggagta ctcctatgac
     2401 attaaccgtg ttcctgagga gcagatgacc ttcaaggact tggtgtcatg cacctaccag
     2461 ctggccagag gcatggagta cttggcttcc caaaaatgta ttcatcgaga tttagcagcc
     2521 agaaatgttt tggtaacaga aaacaatgtg atgaaaatag cagactttgg actcgccaga
     2581 gatatcaaca atatagacta ttacaaaaag accaccaatg ggcggcttcc agtcaagtgg
     2641 atggctccag aagccctgtt tgatagagta tacactcatc agagtgatgt ctggtccttc
     2701 ggggtgttaa tgtgggagat cttcacttta gggggctcgc cctacccagg gattcccgtg
     2761 gaggaacttt ttaagctgct gaaggaagga cacagaatgg ataagccagc caactgcacc
     2821 aacgaactgt acatgatgat gagggactgt tggcatgcag tgccctccca gagaccaacg
     2881 ttcaagcagt tggtagaaga cttggatcga attctcactc tcacaaccaa tgaggaatac
     2941 ttggacctca gccaacctct cgaacagtat tcacctagtt accctgacac aagaagttct
     3001 tgttcttcag gagatgattc tgttttttct ccagacccca tgccttacga accatgcctt
     3061 cctcagtatc cacacataaa cggcagtgtt aaaacatgaa tgactgtgtc tgcctgtccc
     3121 caaacaggac agcactggga acctagctac actgagcagg gagaccatgc ctcccagagc
     3181 ttgttgtctc cacttgtata tatggatcag aggagtaaat aattggaaaa gtaatcagca
     3241 tatgtgtaaa gatttataca gttgaaaact tgtaatcttc cccaggagga gaagaaggtt
     3301 tctggagcag tggactgcca caagccacca tgtaacccct ctcacctgcc gtgcgtactg
     3361 gctgtggacc agtaggactc aaggtggacg tgcgttctgc cttccttgtt aattttgtaa
     3421 taattggaga agatttatgt cagcacacac ttacagagca caaatgcagt atataggtgc
     3481 tggatgtatg taaatatatt caaattatgt ataaatatat attatatatt tacaaggagt
     3541 tattttttgt attgatttta aatggatgtc ccaatgcacc tagaaaattg gtctctcttt
     3601 ttttaatagc tatttgctaa atgctgttct tacacataat ttcttaattt tcaccgagca
     3661 gaggtggaaa aatacttttg ctttcaggga aaatggtata acgttaattt attaataaat
     3721 tggtaatata caaaacaatt aatcatttat agtttttttt gtaatttaag tggcatttct
     3781 atgcaggcag cacagcagac tagttaatct attgcttgga cttaactagt tatcagatcc
     3841 tttgaaaaga gaatatttac aatatatgac taatttgggg aaaatgaagt tttgatttat
     3901 ttgtgtttaa atgctgctgt cagacgattg ttcttagacc tcctaaatgc cccatattaa
     3961 aagaactcat tcataggaag gtgtttcatt ttggtgtgca accctgtcat tacgtcaacg
     4021 caacgtctaa ctggacttcc caagataaat ggtaccagcg tcctcttaaa agatgcctta
     4081 atccattcct tgaggacaga ccttagttga aatgatagca gaatgtgctt ctctctggca
     4141 gctggccttc tgcttctgag ttgcacatta atcagattag cctgtattct cttcagtgaa
     4201 ttttgataat ggcttccaga ctctttggcg ttggagacgc ctgttaggat cttcaagtcc
     4261 catcatagaa aattgaaaca cagagttgtt ctgctgatag ttttggggat acgtccatct
     4321 ttttaaggga ttgctttcat ctaattctgg caggacctca ccaaaagatc cagcctcata
     4381 cctacatcag acaaaatatc gccgttgttc cttctgtact aaagtattgt gttttgcttt
     4441 ggaaacaccc actcactttg caatagccgt gcaagatgaa tgcagattac actgatctta
     4501 tgtgttacaa aattggagaa agtatttaat aaaacctgtt aatttttata ctgacaataa
     4561 aaatgtttct acagatatta atgttaacaa gacaaaataa atgtcacgca acttattttt
     4621 ttaa
//
LOCUS       NM_000142               4301 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript
            variant 1, mRNA.
ACCESSION   NM_000142
VERSION     NM_000142.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4301)
  AUTHORS   Xu PH, Chen S, Wang Y, Jin S, Wang J, Ye D, Zhu X and Shen Y.
  TITLE     FGFR3 mutation characterization identifies prognostic and
            immune-related gene signatures in bladder cancer
  JOURNAL   Comput Biol Med 162, 106976 (2023)
   PUBMED   37301098
  REMARK    GeneRIF: FGFR3 mutation characterization identifies prognostic and
            immune-related gene signatures in bladder cancer.
REFERENCE   2  (bases 1 to 4301)
  AUTHORS   Zhang H, Xiang G, Li J, He S, Wang Y, Deng A, Wang Y and Guo C.
  TITLE     Promotion effect of FGF23 on osteopenia in congenital scoliosis
            through FGFr3/TNAP/OPN pathway
  JOURNAL   Chin Med J (Engl) 136 (12), 1468-1477 (2023)
   PUBMED   37192015
  REMARK    GeneRIF: Promotion effect of FGF23 on osteopenia in congenital
            scoliosis through FGFr3/TNAP/OPN pathway.
REFERENCE   3  (bases 1 to 4301)
  AUTHORS   Oliushina EM, Zavalishina LE, Alekseenok EY, Oskina NA, Andreeva YY,
            Kuznetsova OA, Filipenko ML and Frank GA.
  TITLE     [Investigation of the mutational status of the FGFR3 gene in
            urothelial bladder carcinoma]
  JOURNAL   Arkh Patol 85 (2), 5-12 (2023)
   PUBMED   37053347
  REMARK    GeneRIF: [Investigation of the mutational status of the FGFR3 gene
            in urothelial bladder carcinoma].
REFERENCE   4  (bases 1 to 4301)
  AUTHORS   Bober,M.B., Bellus,G.A., Nikkel,S.M. and Tiller,G.E.
  TITLE     Hypochondroplasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301650
REFERENCE   5  (bases 1 to 4301)
  AUTHORS   Wenger,T., Miller,D. and Evans,K.
  TITLE     FGFR Craniosynostosis Syndromes Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301628
REFERENCE   6  (bases 1 to 4301)
  AUTHORS   Kruszka,P., Rolle,M., Kahle,K.T. and Muenke,M.
  TITLE     Muenke Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301588
REFERENCE   7  (bases 1 to 4301)
  AUTHORS   French,T. and Savarirayan,R.
  TITLE     Thanatophoric Dysplasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301540
REFERENCE   8  (bases 1 to 4301)
  AUTHORS   Legare,J.M.
  TITLE     Achondroplasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301331
REFERENCE   9  (bases 1 to 4301)
  AUTHORS   Thompson LM, Plummer S, Schalling M, Altherr MR, Gusella JF, Housman
            DE and Wasmuth JJ.
  TITLE     A gene encoding a fibroblast growth factor receptor isolated from
            the Huntington disease gene region of human chromosome 4
  JOURNAL   Genomics 11 (4), 1133-1142 (1991)
   PUBMED   1664411
REFERENCE   10  (bases 1 to 4301)
  AUTHORS   Keegan K, Johnson DE, Williams LT and Hayman MJ.
  TITLE     Isolation of an additional member of the fibroblast growth factor
            receptor family, FGFR-3
  JOURNAL   Proc Natl Acad Sci U S A 88 (4), 1095-1099 (1991)
   PUBMED   1847508
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR9304719.217759.1,
            ERR3218372.729235.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000440486.8/ ENSP00000414914.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016773.8.
            On Mar 11, 2020 this sequence version replaced NM_000142.4.
            Summary: This gene encodes a member of the fibroblast growth factor
            receptor (FGFR) family, with its amino acid sequence being highly
            conserved between members and among divergent species. FGFR family
            members differ from one another in their ligand affinities and
            tissue distribution. A full-length representative protein would
            consist of an extracellular region, composed of three
            immunoglobulin-like domains, a single hydrophobic membrane-spanning
            segment and a cytoplasmic tyrosine kinase domain. The extracellular
            portion of the protein interacts with fibroblast growth factors,
            setting in motion a cascade of downstream signals, ultimately
            influencing mitogenesis and differentiation. This particular family
            member binds acidic and basic fibroblast growth hormone and plays a
            role in bone development and maintenance. Mutations in this gene
            lead to craniosynostosis and multiple types of skeletal dysplasia.
            [provided by RefSeq, Aug 2017].
            Transcript Variant: This variant (1) lacks an alternate coding exon
            and contains another alternate coding exon compared to variant 3.
            The resulting isoform (1) has the same N- and C-termini but is
            shorter compared to isoform 3.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4301
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..4301
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="fibroblast growth factor receptor 3"
                     /db_xref="GeneID:2261"
                     /db_xref="HGNC:HGNC:3690"
                     /db_xref="MIM:134934"
     CDS             276..2696
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /EC_number="2.7.10.1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; hydroxyaryl-protein kinase; tyrosine kinase JTK4;
                     FGFR-3; fibroblast growth factor receptor 3-S"
                     /codon_start=1
                     /product="fibroblast growth factor receptor 3 isoform 1
                     precursor"
                     /protein_id="NP_000133.1"
                     /db_xref="CCDS:CCDS3353.1"
                     /db_xref="GeneID:2261"
                     /db_xref="HGNC:HGNC:3690"
                     /db_xref="MIM:134934"
                     /translation="MGAPACALALCVAVAIVAGASSESLGTEQRVVGRAAEVPGPEPGQ
                     QEQLVFGSGDAVELSCPPPGGGPMGPTVWVKDGTGLVPSERVLVGPQRLQVLNASHEDS
                     GAYSCRQRLTQRVLCHFSVRVTDAPSSGDDEDGEDEAEDTGVDTGAPYWTRPERMDKKL
                     LAVPAANTVRFRCPAAGNPTPSISWLKNGREFRGEHRIGGIKLRHQQWSLVMESVVPSD
                     RGNYTCVVENKFGSIRQTYTLDVLERSPHRPILQAGLPANQTAVLGSDVEFHCKVYSDA
                     QPHIQWLKHVEVNGSKVGPDGTPYVTVLKTAGANTTDKELEVLSLHNVTFEDAGEYTCL
                     AGNSIGFSHHSAWLVVLPAEEELVEADEAGSVYAGILSYGVGFFLFILVVAAVTLCRLR
                     SPPKKGLGSPTVHKISRFPLKRQVSLESNASMSSNTPLVRIARLSSGEGPTLANVSELE
                     LPADPKWELSRARLTLGKPLGEGCFGQVVMAEAIGIDKDRAAKPVTVAVKMLKDDATDK
                     DLSDLVSEMEMMKMIGKHKNIINLLGACTQGGPLYVLVEYAAKGNLREFLRARRPPGLD
                     YSFDTCKPPEEQLTFKDLVSCAYQVARGMEYLASQKCIHRDLAARNVLVTEDNVMKIAD
                     FGLARDVHNLDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSP
                     YPGIPVEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLT
                     VTSTDEYLDLSAPFEQYSPGGQDTPSSSSSGDDSVFAHDLLPPAPPSSGGSRT"
     sig_peptide     276..341
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     342..2693
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /product="fibroblast growth factor receptor 3 isoform 1"
     misc_feature    567..569
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P22607.1); glycosylation site"
     misc_feature    651..734
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="propagated from UniProtKB/Swiss-Prot (P22607.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    948..950
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P22607.1); glycosylation site"
     misc_feature    1059..1061
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P22607.1); glycosylation site"
     misc_feature    1155..1157
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P22607.1); glycosylation site"
     misc_feature    1218..1220
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P22607.1); glycosylation site"
     misc_feature    1257..1259
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P22607.1); glycosylation site"
     misc_feature    1401..1463
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="propagated from UniProtKB/Swiss-Prot (P22607.1);
                     transmembrane region"
     misc_feature    1605..1607
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61851; propagated from
                     UniProtKB/Swiss-Prot (P22607.1); phosphorylation site"
     misc_feature    1608..1610
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61851; propagated from
                     UniProtKB/Swiss-Prot (P22607.1); phosphorylation site"
     misc_feature    2214..2216
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000305|PubMed:8754806; propagated from
                     UniProtKB/Swiss-Prot (P22607.1); phosphorylation site"
     misc_feature    2217..2219
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000305|PubMed:8754806; propagated from
                     UniProtKB/Swiss-Prot (P22607.1); phosphorylation site"
     misc_feature    2445..2447
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:11294897; propagated from
                     UniProtKB/Swiss-Prot (P22607.1); phosphorylation site"
     misc_feature    2553..2555
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:19286672; propagated from
                     UniProtKB/Swiss-Prot (P22607.1); phosphorylation site"
     misc_feature    2568..2693
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="propagated from UniProtKB/Swiss-Prot (P22607.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4280..4285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="hexamer: AATAAA"
     polyA_site      4301
                     /gene="FGFR3"
                     /gene_synonym="ACH; CD333; CEK2; HSFGFR3EX; JTK4"
                     /note="major polyA site"
ORIGIN
        1 agtgcgcggt ggcggcggcg tcgcgggcag ctggcgccgc gcggtcctgc tctgccggtc
       61 gcacggacgc accggcgggc cgccggccgg agggacgggg cgggagctgg gcccgcggac
      121 agcgagccgg agcgggagcc gcgcgtagcg agccgggctc cggcgctcgc cagtctcccg
      181 agcggcgccc gcctcccgcc ggtgcccgcg ccgggccgtg gggggcagca tgcccgcgcg
      241 cgctgcctga ggacgccgcg gcccccgccc ccgccatggg cgcccctgcc tgcgccctcg
      301 cgctctgcgt ggccgtggcc atcgtggccg gcgcctcctc ggagtccttg gggacggagc
      361 agcgcgtcgt ggggcgagcg gcagaagtcc cgggcccaga gcccggccag caggagcagt
      421 tggtcttcgg cagcggggat gctgtggagc tgagctgtcc cccgcccggg ggtggtccca
      481 tggggcccac tgtctgggtc aaggatggca cagggctggt gccctcggag cgtgtcctgg
      541 tggggcccca gcggctgcag gtgctgaatg cctcccacga ggactccggg gcctacagct
      601 gccggcagcg gctcacgcag cgcgtactgt gccacttcag tgtgcgggtg acagacgctc
      661 catcctcggg agatgacgaa gacggggagg acgaggctga ggacacaggt gtggacacag
      721 gggcccctta ctggacacgg cccgagcgga tggacaagaa gctgctggcc gtgccggccg
      781 ccaacaccgt ccgcttccgc tgcccagccg ctggcaaccc cactccctcc atctcctggc
      841 tgaagaacgg cagggagttc cgcggcgagc accgcattgg aggcatcaag ctgcggcatc
      901 agcagtggag cctggtcatg gaaagcgtgg tgccctcgga ccgcggcaac tacacctgcg
      961 tcgtggagaa caagtttggc agcatccggc agacgtacac gctggacgtg ctggagcgct
     1021 ccccgcaccg gcccatcctg caggcggggc tgccggccaa ccagacggcg gtgctgggca
     1081 gcgacgtgga gttccactgc aaggtgtaca gtgacgcaca gccccacatc cagtggctca
     1141 agcacgtgga ggtgaatggc agcaaggtgg gcccggacgg cacaccctac gttaccgtgc
     1201 tcaagacggc gggcgctaac accaccgaca aggagctaga ggttctctcc ttgcacaacg
     1261 tcacctttga ggacgccggg gagtacacct gcctggcggg caattctatt gggttttctc
     1321 atcactctgc gtggctggtg gtgctgccag ccgaggagga gctggtggag gctgacgagg
     1381 cgggcagtgt gtatgcaggc atcctcagct acggggtggg cttcttcctg ttcatcctgg
     1441 tggtggcggc tgtgacgctc tgccgcctgc gcagcccccc caagaaaggc ctgggctccc
     1501 ccaccgtgca caagatctcc cgcttcccgc tcaagcgaca ggtgtccctg gagtccaacg
     1561 cgtccatgag ctccaacaca ccactggtgc gcatcgcaag gctgtcctca ggggagggcc
     1621 ccacgctggc caatgtctcc gagctcgagc tgcctgccga ccccaaatgg gagctgtctc
     1681 gggcccggct gaccctgggc aagccccttg gggagggctg cttcggccag gtggtcatgg
     1741 cggaggccat cggcattgac aaggaccggg ccgccaagcc tgtcaccgta gccgtgaaga
     1801 tgctgaaaga cgatgccact gacaaggacc tgtcggacct ggtgtctgag atggagatga
     1861 tgaagatgat cgggaaacac aaaaacatca tcaacctgct gggcgcctgc acgcagggcg
     1921 ggcccctgta cgtgctggtg gagtacgcgg ccaagggtaa cctgcgggag tttctgcggg
     1981 cgcggcggcc cccgggcctg gactactcct tcgacacctg caagccgccc gaggagcagc
     2041 tcaccttcaa ggacctggtg tcctgtgcct accaggtggc ccggggcatg gagtacttgg
     2101 cctcccagaa gtgcatccac agggacctgg ctgcccgcaa tgtgctggtg accgaggaca
     2161 acgtgatgaa gatcgcagac ttcgggctgg cccgggacgt gcacaacctc gactactaca
     2221 agaagacgac caacggccgg ctgcccgtga agtggatggc gcctgaggcc ttgtttgacc
     2281 gagtctacac tcaccagagt gacgtctggt cctttggggt cctgctctgg gagatcttca
     2341 cgctgggggg ctccccgtac cccggcatcc ctgtggagga gctcttcaag ctgctgaagg
     2401 agggccaccg catggacaag cccgccaact gcacacacga cctgtacatg atcatgcggg
     2461 agtgctggca tgccgcgccc tcccagaggc ccaccttcaa gcagctggtg gaggacctgg
     2521 accgtgtcct taccgtgacg tccaccgacg agtacctgga cctgtcggcg cctttcgagc
     2581 agtactcccc gggtggccag gacaccccca gctccagctc ctcaggggac gactccgtgt
     2641 ttgcccacga cctgctgccc ccggccccac ccagcagtgg gggctcgcgg acgtgaaggg
     2701 ccactggtcc ccaacaatgt gaggggtccc tagcagccca ccctgctgct ggtgcacagc
     2761 cactccccgg catgagactc agtgcagatg gagagacagc tacacagagc tttggtctgt
     2821 gtgtgtgtgt gtgcgtgtgt gtgtgtgtgt gtgcacatcc gcgtgtgcct gtgtgcgtgc
     2881 gcatcttgcc tccaggtgca gaggtaccct gggtgtcccc gctgctgtgc aacggtctcc
     2941 tgactggtgc tgcagcaccg aggggccttt gttctggggg gacccagtgc agaatgtaag
     3001 tgggcccacc cggtgggacc cccgtggggc agggagctgg gcccgacatg gctccggcct
     3061 ctgcctttgc accacgggac atcacagggt gggcctcggc ccctcccaca cccaaagctg
     3121 agcctgcagg gaagccccac atgtccagca ccttgtgcct ggggtgttag tggcaccgcc
     3181 tccccacctc caggctttcc cacttcccac cctgcccctc agagactgaa attacgggta
     3241 cctgaagatg ggagccttta ccttttatgc aaaaggttta ttccggaaac tagtgtacat
     3301 ttctataaat agatgctgtg tatatggtat atatacatat atatatataa catatatgga
     3361 agaggaaaag gctggtacaa cggaggcctg cgaccctggg ggcacaggag gcaggcatgg
     3421 ccctgggcgg ggcgtggggg ggcgtggagg gaggccccag ggggtctcac ccatgcaagc
     3481 agaggaccag ggccttttct ggcaccgcag ttttgtttta aaactggacc tgtatatttg
     3541 taaagctatt tatgggcccc tggcactctt gttcccacac cccaacactt ccagcattta
     3601 gctggccaca tggcggagag ttttaatttt taacttattg acaaccgaga aggtttatcc
     3661 cgccgataga gggacggcca agaatgtacg tccagcctgc cccggagctg gaggatcccc
     3721 tccaagccta aaaggttgtt aatagttgga ggtgattcca gtgaagatat tttatttcct
     3781 ttgtcctttt tcaggagaat tagatttcta taggattttt ctttaggaga tttatttttt
     3841 ggacttcaaa gcaagctggt attttcatac aaattcttct aattgctgtg tgtcccaggc
     3901 agggagacgg tttccaggga ggggccggcc ctgtgtgcag gttccgatgt tattagatgt
     3961 tacaagttta tatatatcta tatatataat ttattgagtt tttacaagat gtatttgttg
     4021 tagacttaac acttcttacg caatgcttct agagttttat agcctggact gctacctttc
     4081 aaagcttgga gggaagccgt gaattcagtt ggttcgttct gtactgttac tgggccctga
     4141 gtctgggcag ctgtcccttg cttgcctgca gggccatggc tcagggtggt ctcttcttgg
     4201 ggcccagtgc atggtggcca gaggtgtcac ccaaaccggc aggtgcgatt ttgttaaccc
     4261 agcgacgaac tttccgaaaa ataaagacac ctggttgcta a
//
LOCUS       NM_000143               1791 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens fumarate hydratase (FH), mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_000143
VERSION     NM_000143.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1791)
  AUTHORS   Wilde BR, Chakraborty N, Matulionis N, Hernandez S, Ueno D, Gee ME,
            Esplin ED, Ouyang K, Nykamp K, Shuch B and Christofk HR.
  TITLE     FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence
            in Kidney Cancer
  JOURNAL   Cancer Discov 13 (9), 2072-2089 (2023)
   PUBMED   37255402
  REMARK    GeneRIF: FH Variant Pathogenicity Promotes Purine Salvage Pathway
            Dependence in Kidney Cancer.
REFERENCE   2  (bases 1 to 1791)
  AUTHORS   Shi Y, Xu Y, Wang C, Chen Y, Ren X, Kang Y and Wang C.
  TITLE     A Missense Mutation c.1132G > A in Fumarate Hydratase (FH) Leads to
            Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Syndrome and
            Insights into Clinical Management in Uterine Leiomyomata
  JOURNAL   Genes (Basel) 14 (3), 744 (2023)
   PUBMED   36981015
  REMARK    GeneRIF: A Missense Mutation c.1132G > A in Fumarate Hydratase (FH)
            Leads to Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
            Syndrome and Insights into Clinical Management in Uterine
            Leiomyomata. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1791)
  AUTHORS   Hooftman A, Peace CG, Ryan DG, Day EA, Yang M, McGettrick AF, Yin M,
            Montano EN, Huo L, Toller-Kawahisa JE, Zecchini V, Ryan TAJ,
            Bolado-Carrancio A, Casey AM, Prag HA, Costa ASH, De Los Santos G,
            Ishimori M, Wallace DJ, Venuturupalli S, Nikitopoulou E, Frizzell N,
            Johansson C, Von Kriegsheim A, Murphy MP, Jefferies C, Frezza C and
            O'Neill LAJ.
  TITLE     Macrophage fumarate hydratase restrains mtRNA-mediated interferon
            production
  JOURNAL   Nature 615 (7952), 490-498 (2023)
   PUBMED   36890227
  REMARK    GeneRIF: Macrophage fumarate hydratase restrains mtRNA-mediated
            interferon production.
REFERENCE   4  (bases 1 to 1791)
  AUTHORS   Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D,
            Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan
            S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A,
            Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomaki K, Hietala M,
            Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V and Aaltonen
            LA.
  CONSRTM   Multiple Leiomyoma Consortium
  TITLE     Germline mutations in FH predispose to dominantly inherited uterine
            fibroids, skin leiomyomata and papillary renal cell cancer
  JOURNAL   Nat Genet 30 (4), 406-410 (2002)
   PUBMED   11865300
  REMARK    GeneRIF: Germline mutations in FH predispose to dominantly inherited
            uterine fibroids, skin leiomyomata and papillary renal cell cancer
REFERENCE   5  (bases 1 to 1791)
  AUTHORS   Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouze
            P, Munnich A, Rotig A, Landrieu P and Rustin P.
  TITLE     Mutation of the fumarase gene in two siblings with progressive
            encephalopathy and fumarase deficiency
  JOURNAL   J Clin Invest 93 (6), 2514-2518 (1994)
   PUBMED   8200987
REFERENCE   6  (bases 1 to 1791)
  AUTHORS   Coman,D., Kranc,K.R. and Christodoulou,J.
  TITLE     Fumarate Hydratase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301679
REFERENCE   7  (bases 1 to 1791)
  AUTHORS   Kamihara,J., Schultz,K.A. and Rana,H.Q.
  TITLE     FH Tumor Predisposition Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301430
REFERENCE   8  (bases 1 to 1791)
  AUTHORS   Beeckmans S, Van Driessche E and Kanarek L.
  TITLE     The visualization by affinity electrophoresis of a specific
            association between the consecutive citric acid cycle enzymes
            fumarase and malate dehydrogenase
  JOURNAL   Eur J Biochem 183 (2), 449-454 (1989)
   PUBMED   2759092
REFERENCE   9  (bases 1 to 1791)
  AUTHORS   Edwards,Y.H. and Hopkinson,D.A.
  TITLE     The genetic determination of fumarase isozymes in human tissues
  JOURNAL   Ann Hum Genet 42 (3), 303-313 (1979)
   PUBMED   434773
REFERENCE   10  (bases 1 to 1791)
  AUTHORS   Craig,I., Tolley,E. and Bobrow,M.
  TITLE     Mitochondrial and cytoplasmic forms of fumarate hydratase assigned
            to chromosome 1
  JOURNAL   Cytogenet Cell Genet 16 (1-5), 118-121 (1976)
   PUBMED   975868
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U59309.1, BC003108.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000366560.4/ ENSP00000355518.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA129148.1, BC003108.1 and
            AA669797.1.
            On Nov 30, 2019 this sequence version replaced NM_000143.3.
            Summary: The protein encoded by this gene is an enzymatic component
            of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and
            catalyzes the formation of L-malate from fumarate. It exists in
            both a cytosolic form and an N-terminal extended form, differing
            only in the translation start site used. The N-terminal extended
            form is targeted to the mitochondrion, where the removal of the
            extension generates the same form as in the cytoplasm. It is
            similar to some thermostable class II fumarases and functions as a
            homotetramer. Mutations in this gene can cause fumarase deficiency
            and lead to progressive encephalopathy. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1791
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q43"
     gene            1..1791
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="fumarate hydratase"
                     /db_xref="GeneID:2271"
                     /db_xref="HGNC:HGNC:3700"
                     /db_xref="MIM:136850"
     CDS             34..1566
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /EC_number="4.2.1.2"
                     /note="fumarase; epididymis secretory sperm binding
                     protein"
                     /codon_start=1
                     /product="fumarate hydratase, mitochondrial"
                     /protein_id="NP_000134.2"
                     /db_xref="CCDS:CCDS1617.1"
                     /db_xref="GeneID:2271"
                     /db_xref="HGNC:HGNC:3700"
                     /db_xref="MIM:136850"
                     /translation="MYRALRLLARSRPLVRAPAAALASAPGLGGAAVPSFWPPNAARMA
                     SQNSFRIEYDTFGELKVPNDKYYGAQTVRSTMNFKIGGVTERMPTPVIKAFGILKRAAA
                     EVNQDYGLDPKIANAIMKAADEVAEGKLNDHFPLVVWQTGSGTQTNMNVNEVISNRAIE
                     MLGGELGSKIPVHPNDHVNKSQSSNDTFPTAMHIAAAIEVHEVLLPGLQKLHDALDAKS
                     KEFAQIIKIGRTHTQDAVPLTLGQEFSGYVQQVKYAMTRIKAAMPRIYELAAGGTAVGT
                     GLNTRIGFAEKVAAKVAALTGLPFVTAPNKFEALAAHDALVELSGAMNTTACSLMKIAN
                     DIRFLGSGPRSGLGELILPENEPGSSIMPGKVNPTQCEAMTMVAAQVMGNHVAVTVGGS
                     NGHFELNVFKPMMIKNVLHSARLLGDASVSFTENCVVGIQANTERINKLMNESLMLVTA
                     LNPHIGYDKAAKIAKTAHKNGSTLKETAIELGYLTAEQFDEWVKPKDMLGPK"
     misc_feature    214..216
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P97807; propagated from
                     UniProtKB/Swiss-Prot (P07954.3); acetylation site"
     misc_feature    229..231
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P07954.3); acetylation site"
     misc_feature    271..273
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P07954.3); acetylation site"
     misc_feature    286..288
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P97807; propagated from
                     UniProtKB/Swiss-Prot (P07954.3); phosphorylation site"
     misc_feature    301..303
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P07954.3); phosphorylation site"
     misc_feature    313..315
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P07954.3); acetylation site"
     misc_feature    376..378
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P97807; propagated from
                     UniProtKB/Swiss-Prot (P07954.3); acetylation site"
     misc_feature    397..399
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P97807; propagated from
                     UniProtKB/Swiss-Prot (P07954.3); acetylation site"
     misc_feature    670..672
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P97807; propagated from
                     UniProtKB/Swiss-Prot (P07954.3); acetylation site"
     misc_feature    700..702
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P97807; propagated from
                     UniProtKB/Swiss-Prot (P07954.3); acetylation site"
     misc_feature    739..741
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="Phosphothreonine, by PRKDC.
                     /evidence=ECO:0000269|PubMed:26237645; propagated from
                     UniProtKB/Swiss-Prot (P07954.3); phosphorylation site"
     misc_feature    799..801
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P07954.3); acetylation site"
     misc_feature    907..909
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P07954.3); acetylation site"
     misc_feature    1129..1131
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P07954.3); phosphorylation site"
     misc_feature    1165..1167
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="Important for catalytic activity.
                     /evidence=ECO:0000250|UniProtKB:P05042; propagated from
                     UniProtKB/Swiss-Prot (P07954.3); other site"
     misc_feature    1537..1539
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P97807; propagated from
                     UniProtKB/Swiss-Prot (P07954.3); acetylation site"
     regulatory      1598..1603
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="hexamer: TATAAA"
     polyA_site      1614
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="major polyA site"
     regulatory      1755..1760
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="hexamer: AATACA"
     regulatory      1768..1773
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
                     /note="hexamer: AATAAA"
     polyA_site      1775
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
     polyA_site      1791
                     /gene="FH"
                     /gene_synonym="FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1"
ORIGIN
        1 gcccagaaat tctacccaag ctccctcagc accatgtacc gagcacttcg gctcctcgcg
       61 cgctcgcgtc ccctcgtgcg ggctccagcc gcagccttag cttcggctcc cggcttgggt
      121 ggcgcggccg tgccctcgtt ttggcctccg aacgcggctc gaatggcaag ccaaaattcc
      181 ttccggatag aatatgatac ctttggtgaa ctaaaggtgc caaatgataa gtattatggc
      241 gcccagaccg tgagatctac gatgaacttt aagattggag gtgtgacaga acgcatgcca
      301 accccagtta ttaaagcttt tggcatcttg aagcgagcgg ccgctgaagt aaaccaggat
      361 tatggtcttg atccaaagat tgctaatgca ataatgaagg cagcagatga ggtagctgaa
      421 ggtaaattaa atgatcattt tcctctcgtg gtatggcaga ctggatcagg aactcagaca
      481 aatatgaatg taaatgaagt cattagcaat agagcaattg aaatgttagg aggtgaactt
      541 ggcagcaaga tacctgtgca tcccaacgat catgttaata aaagccagag ctcaaatgat
      601 acttttccca cagcaatgca cattgctgct gcaatagaag ttcatgaagt actgttacca
      661 ggactacaga agttacatga tgctcttgat gcaaaatcca aagagtttgc acagatcatc
      721 aagattggac gtactcatac tcaggatgct gttccactta ctcttgggca ggaatttagt
      781 ggttatgttc aacaagtaaa atatgcaatg acaagaataa aagctgccat gccaagaatc
      841 tatgagctcg cagctggagg cactgctgtt ggtacaggtt taaatactag aattggcttt
      901 gcagaaaagg ttgctgcaaa agtggctgca cttacaggct tgccttttgt cactgctccg
      961 aataaatttg aagctctggc tgctcatgac gctctggttg agctcagtgg agccatgaac
     1021 actactgcct gcagtctgat gaagatagca aatgatattc gatttttggg ttctggtcct
     1081 cggtcaggtc tgggagaatt gatcttgcct gaaaatgaac caggaagcag tatcatgcca
     1141 ggcaaggtga accctactca gtgtgaagca atgaccatgg ttgcagccca agtcatgggg
     1201 aaccatgttg ctgtcactgt cggaggcagc aatggacatt ttgagttgaa tgttttcaag
     1261 ccaatgatga ttaaaaatgt gttacactca gccaggctgc tgggggatgc ttcagtttcc
     1321 tttacagaaa actgcgtggt gggaatccag gccaatacag aaaggatcaa caagctgatg
     1381 aatgagtctc taatgttggt gacagctctc aatcctcata tagggtatga caaggcagca
     1441 aagattgcta agacagcaca caaaaatgga tcaaccttaa aggaaactgc tatcgaactt
     1501 ggctatctca cagcagagca gtttgacgaa tgggtaaaac ctaaggacat gctgggtcca
     1561 aagtgattta cataaattta taatgaaaat aaacatgtat aaaatttaaa aaaacagact
     1621 cccatttctt aaaaacggat aagtttgaaa ggaaactgct attgaactta agcatctcta
     1681 gcagagcaat ttgatcagta tataaaaccc taggatgtgc taggtctaag atggattaaa
     1741 caagtataaa ataaaataca tttataaaat aaaaaggaaa acagacttaa a
//
LOCUS       NM_000144               6978 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens frataxin (FXN), transcript variant 1, mRNA; nuclear
            gene for mitochondrial product.
ACCESSION   NM_000144
VERSION     NM_000144.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6978)
  AUTHORS   Lam C, Gilliam KM, Rodden LN, Schadt KA, Lynch DR and Bidichandani
            S.
  TITLE     FXN gene methylation determines carrier status in Friedreich ataxia
  JOURNAL   J Med Genet 60 (8), 797-800 (2023)
   PUBMED   36635061
  REMARK    GeneRIF: FXN gene methylation determines carrier status in
            Friedreich ataxia.
REFERENCE   2  (bases 1 to 6978)
  AUTHORS   Hazra R, Novelli EM and Hu X.
  TITLE     Astrocytic mitochondrial frataxin-A promising target for ischemic
            brain injury
  JOURNAL   CNS Neurosci Ther 29 (3), 783-788 (2023)
   PUBMED   36550598
  REMARK    GeneRIF: Astrocytic mitochondrial frataxin-A promising target for
            ischemic brain injury. Review article
REFERENCE   3  (bases 1 to 6978)
  AUTHORS   Angulo MB, Bertalovitz A, Argenziano MA, Yang J, Patel A, Zesiewicz
            T and McDonald TV.
  TITLE     Frataxin deficiency alters gene expression in Friedreich ataxia
            derived IPSC-neurons and cardiomyocytes
  JOURNAL   Mol Genet Genomic Med 11 (1), e2093 (2023)
   PUBMED   36369844
  REMARK    GeneRIF: Frataxin deficiency alters gene expression in Friedreich
            ataxia derived IPSC-neurons and cardiomyocytes.
REFERENCE   4  (bases 1 to 6978)
  AUTHORS   Wang F, Calvo-Roitberg E, Rembetsy-Brown JM, Fang M, Sousa J, Kartje
            ZJ, Krishnamurthy PM, Lee J, Green MR, Pai AA and Watts JK.
  TITLE     G-rich motifs within phosphorothioate-based antisense
            oligonucleotides (ASOs) drive activation of FXN expression through
            indirect effects
  JOURNAL   Nucleic Acids Res 50 (22), 12657-12673 (2022)
   PUBMED   36511872
  REMARK    GeneRIF: G-rich motifs within phosphorothioate-based antisense
            oligonucleotides (ASOs) drive activation of FXN expression through
            indirect effects.
REFERENCE   5  (bases 1 to 6978)
  AUTHORS   Bidichandani,S.I., Ashizawa,T. and Patel,P.I.
  TITLE     Atypical Friedreich ataxia caused by compound heterozygosity for a
            novel missense mutation and the GAA triplet-repeat expansion
  JOURNAL   Am J Hum Genet 60 (5), 1251-1256 (1997)
   PUBMED   9150176
REFERENCE   6  (bases 1 to 6978)
  AUTHORS   Carvajal JJ, Pook MA, dos Santos M, Doudney K, Hillermann R, Minogue
            S, Williamson R, Hsuan JJ and Chamberlain S.
  TITLE     The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-
            phosphate 5-kinase
  JOURNAL   Nat Genet 14 (2), 157-162 (1996)
   PUBMED   8841185
REFERENCE   7  (bases 1 to 6978)
  AUTHORS   Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti
            F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J,
            Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De
            Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S,
            Mandel JL, Cocozza S, Koenig M and Pandolfo M.
  TITLE     Friedreich's ataxia: autosomal recessive disease caused by an
            intronic GAA triplet repeat expansion
  JOURNAL   Science 271 (5254), 1423-1427 (1996)
   PUBMED   8596916
REFERENCE   8  (bases 1 to 6978)
  AUTHORS   Montermini L, Rodius F, Pianese L, Molto MD, Cossee M, Campuzano V,
            Cavalcanti F, Monticelli A, Palau F, Gyapay G et al.
  TITLE     The Friedreich ataxia critical region spans a 150-kb interval on
            chromosome 9q13
  JOURNAL   Am J Hum Genet 57 (5), 1061-1067 (1995)
   PUBMED   7485155
  REMARK    Erratum:[Am J Hum Genet 1995 Dec;57(6):1520]
REFERENCE   9  (bases 1 to 6978)
  AUTHORS   Bidichandani,S.I. and Delatycki,M.B.
  TITLE     Friedreich Ataxia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301458
REFERENCE   10  (bases 1 to 6978)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301317
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC048097.1, SRR14038196.2249949.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000484259.3/ ENSP00000419243.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162730.26, U43747.1 and
            BC023633.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000144.4.
            Summary: This nuclear gene encodes a mitochondrial protein which
            belongs to the FRATAXIN family. The protein functions in regulating
            mitochondrial iron transport and respiration. The expansion of
            intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats
            results in Friedreich ataxia. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Jul 2016].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6978
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.11"
     gene            1..6978
                     /gene="FXN"
                     /gene_synonym="CyaY; FA; FARR; FRDA; X25"
                     /note="frataxin"
                     /db_xref="GeneID:2395"
                     /db_xref="HGNC:HGNC:3951"
                     /db_xref="MIM:606829"
     CDS             32..664
                     /gene="FXN"
                     /gene_synonym="CyaY; FA; FARR; FRDA; X25"
                     /EC_number="1.16.3.1"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; frataxin, mitochondrial; Friedreich ataxia
                     protein"
                     /codon_start=1
                     /product="frataxin, mitochondrial isoform 1 preproprotein"
                     /protein_id="NP_000135.2"
                     /db_xref="CCDS:CCDS6626.1"
                     /db_xref="GeneID:2395"
                     /db_xref="HGNC:HGNC:3951"
                     /db_xref="MIM:606829"
                     /translation="MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRTD
                     IDATCTPRRASSNQRGLNQIWNVKKQSVYLMNLRKSGTLGHPGSLDETTYERLAEETLD
                     SLAEFFEDLADKPYTFEDYDVSFGSGVLTVKLGGDLGTYVINKQTPNKQIWLSSPSSGP
                     KRYDWTGKNWVYSHDGVSLHELLAAELTKALKTKLDLSSLAYSGKDA"
     transit_peptide 32..154
                     /gene="FXN"
                     /gene_synonym="CyaY; FA; FARR; FRDA; X25"
     proprotein      155..661
                     /gene="FXN"
                     /gene_synonym="CyaY; FA; FARR; FRDA; X25"
                     /product="frataxin, mitochondrial isoform 1 proprotein"
     mat_peptide     197..661
                     /gene="FXN"
                     /gene_synonym="CyaY; FA; FARR; FRDA; X25"
                     /product="frataxin, mitochondrial isoform 1"
     regulatory      974..979
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FXN"
                     /gene_synonym="CyaY; FA; FARR; FRDA; X25"
                     /note="hexamer: AATAAG"
     polyA_site      1003
                     /gene="FXN"
                     /gene_synonym="CyaY; FA; FARR; FRDA; X25"
                     /note="major polyA site"
     regulatory      1104..1109
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FXN"
                     /gene_synonym="CyaY; FA; FARR; FRDA; X25"
                     /note="hexamer: ATTAAA"
     polyA_site      1123
                     /gene="FXN"
                     /gene_synonym="CyaY; FA; FARR; FRDA; X25"
     regulatory      2775..2780
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FXN"
                     /gene_synonym="CyaY; FA; FARR; FRDA; X25"
                     /note="hexamer: AATAAA"
     polyA_site      2796
                     /gene="FXN"
                     /gene_synonym="CyaY; FA; FARR; FRDA; X25"
     regulatory      6957..6962
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FXN"
                     /gene_synonym="CyaY; FA; FARR; FRDA; X25"
                     /note="hexamer: AATAAA"
     polyA_site      6978
                     /gene="FXN"
                     /gene_synonym="CyaY; FA; FARR; FRDA; X25"
ORIGIN
        1 agggcggagc gggcggcaga cccggagcag catgtggact ctcgggcgcc gcgcagtagc
       61 cggcctcctg gcgtcaccca gcccagccca ggcccagacc ctcacccggg tcccgcggcc
      121 ggcagagttg gccccactct gcggccgccg tggcctgcgc accgacatcg atgcgacctg
      181 cacgccccgc cgcgcaagtt cgaaccaacg tggcctcaac cagatttgga atgtcaaaaa
      241 gcagagtgtc tatttgatga atttgaggaa atctggaact ttgggccacc caggctctct
      301 agatgagacc acctatgaaa gactagcaga ggaaacgctg gactctttag cagagttttt
      361 tgaagacctt gcagacaagc catacacgtt tgaggactat gatgtctcct ttgggagtgg
      421 tgtcttaact gtcaaactgg gtggagatct aggaacctat gtgatcaaca agcagacgcc
      481 aaacaagcaa atctggctat cttctccatc cagtggacct aagcgttatg actggactgg
      541 gaaaaactgg gtgtactccc acgacggcgt gtccctccat gagctgctgg ccgcagagct
      601 cactaaagcc ttaaaaacca aactggactt gtcttccttg gcctattccg gaaaagatgc
      661 ttgatgccca gccccgtttt aaggacatta aaagctatca ggccaagacc ccagcttcat
      721 tatgcagctg aggtctgttt tttgttgttg ttgttgttta ttttttttat tcctgctttt
      781 gaggacagtt gggctatgtg tcacagctct gtagaaagaa tgtgttgcct cctaccttgc
      841 ccccaagttc tgatttttaa tttctatgga agattttttg gattgtcgga tttcctccct
      901 cacatgatac cccttatctt ttataatgtc ttatgcctat acctgaatat aacaaccttt
      961 aaaaaagcaa aataataaga aggaaaaatt ccaggaggga aaatgaattg tcttcactct
     1021 tcattctttg aaggatttac tgcaagaagt acatgaagag cagctggtca acctgctcac
     1081 tgttctatct ccaaatgaga cacattaaag ggtagcctac aaatgttttc aggcttcttt
     1141 caaagtgtaa gcacttctga gctctttagc attgaagtgt cgaaagcaac tcacacggga
     1201 agatcatttc ttatttgtgc tctgtgactg ccaaggtgtg gcctgcactg ggttgtccag
     1261 ggagacctag tgctgtttct cccacatatt cacatacgtg tctgtgtgta tatatatttt
     1321 ttcaatttaa aggttagtat ggaatcagct gctacaagaa tgcaaaaaat cttccaaaga
     1381 caagaaaaga ggaaaaaaag ccgttttcat gagctgagtg atgtagcgta acaaacaaaa
     1441 tcatggagct gaggaggtgc cttgtaaaca tgaaggggca gataaaggaa ggagatactc
     1501 atgttgataa agagagccct ggtcctagac atagttcagc cacaaagtag ttgtcccttt
     1561 gtggacaagt ttcccaaatt ccctggacct ctgcttcccc atctgttaaa tgagagaata
     1621 gagtatggtt gattcccagc attcagtggt cctgtcaagc aacctaacag gctagttcta
     1681 attccctatt gggtagatga ggggatgaca aagaacagtt tttaagctat ataggaaaca
     1741 ttgttattgg tgttgcccta tcgtgatttc agttgaattc atgtgaaaat aatagccatc
     1801 cttggcctgg cgcggtggct cacacctgta atcccagcac ttttggaggc caaggtgggt
     1861 ggatcacctg aggtcaggag ttcaagacca gcctggccaa catgatgaaa ccccgtctct
     1921 actaaaaata caaaaaatta gccgggcatg atggcaggtg cctgtaatcc cagctacttg
     1981 ggaggctgaa gcggaagaat cgcttgaacc cagaggtgga ggttgcagtg agccgagatc
     2041 gtgccattgc actgtaacct gggtgactga gcaaaactct gtctcaaaat aataataaca
     2101 atataataat aataatagcc atcctttatt gtacccttac tgggttaatc gtattatacc
     2161 acattacctc attttaattt ttactgacct gcactttata caaagcaaca agcctccagg
     2221 acattaaaat tcatgcaaag ttatgctcat gttatattat tttcttactt aaagaaggat
     2281 ttattagtgg ctgggcatgg tggcgtgcac ctgtaatccc aggtactcag gaggctgaga
     2341 cgggagaatt gcttgacccc aggcggagga ggttacagtg agtcgagatc gtacctgagc
     2401 gacagagcga gactccgtct caaaaaaaaa aaaaaggagg gtttattaat gagaagtttg
     2461 tattaatatg tagcaaaggc ttttccaatg ggtgaataaa aacacattcc attaagtcaa
     2521 gctgggagca gtggcatata cctatagtcc cagctgcaca ggaggctgag acaggaggat
     2581 tgcttgaagc caggaattgg agatcagcct gggcaacaca gcaagatcct atctcttaaa
     2641 aaaagaaaaa aaaacctatt aataataaaa cagtataaac aaaagctaaa taggtaaaat
     2701 attttttctg aaataaaatt attttttgag tctgatggaa atgtttaagt gcagtaggcc
     2761 agtgccagtg agaaaataaa taacatcata catgtttgta tgtgtttgca tcttgcttct
     2821 actgaaagtt tcagtgcacc ccacttactt agaactcggt gacatgatgt actcctttat
     2881 ctgggacaca gcacaaaaga ggtatgcagt ggggctgctc tgacatgaaa gtggaagtta
     2941 aggaatctgg gctcttatgg ggtccttgtg ggccagccct tcaggcctat tttactttca
     3001 ttttacatat agctctaatt ggtttgatta tctcgttccc aaggcagtgg gagatcccca
     3061 tttaaggaaa gaaaaggggc ctggcacagt ggctcatgcc tgtaatccca gcactttggg
     3121 aggctgaggc aagtgtatca cctgaggtca ggagttcaag accagcctgg ccaacatggc
     3181 aaaatcccgt ctctactaaa aatattaaaa aattggctgg gcgtggtggt tcgtgcctat
     3241 aatttcagct actcaggagg ctgaggcagg agaatcgctg taacctgggg ggtggaggtt
     3301 gcagtgagac gagatcatgc cacttcactc cagcctggcc aacagagcca tactccgtct
     3361 caaataaata aataaataaa taaagggact tcaaacacat gaacagcagc caggggaaga
     3421 atcaaaatca tattctgtca agcaaactgg aaaagtacca ctgtgtgtac caatagcctc
     3481 cccaccacag accctgggag catcgcctca tttatggtgt ggtccagtca tccatgtgaa
     3541 ggatgagttt ccaggaaaag gttattaaat attcactgta acatactgga ggaggtgagg
     3601 aattgcataa tacaatctta gaaaactttt ttttcccctt tctatttttt gagacaggat
     3661 ctcactttgg cactcaggct ggaggacagt ggtacaatca aagctcatgg cagcctcgac
     3721 ctccctgggc ttgggcaatc ctcccacagg tgtgcacctc catagctggc taatttgtgt
     3781 attttttgta gagatggggt ttcaccatgt tgcccaggct ggtctctaac acttaggctc
     3841 aagtgatcca cctgcctcgt cctcccaaga tgctgggatt acaggtgtgt gccacaggtg
     3901 ttcatcagaa agctttttct attattttta ccttcttgag tgggtagaac ctcagccaca
     3961 tagaaaataa aatgttctgg catgacttat ttagctctct ggaattacaa agaaggaatg
     4021 aggtgtgtaa aagagaacct gggtttttga atcacaaatt tagaatttaa tcgaaactct
     4081 gcctcttact tgtttgtaga cactgacagt ggcctcatgt tttttttttt tttaatctat
     4141 aaaatggaga tatctaacat gttgagcctg ggcccacagg caaagcacaa tcctgatgtg
     4201 agaagtactc agttcatgac aactgttgtt ctcacatgca tagcataatt tcatattcac
     4261 attggaggac ttctcccaaa atatggatga cgttccctac tcaaccttga acttaatcaa
     4321 aatactcagt ttacttaact tcgtattaga ttctgattcc ctggaaccat ttatcgtgtg
     4381 ccttaccatg cttatatttt acttgatctt ttgcatacct tctaaaacta ttttagccaa
     4441 tttaaaattt gacagtttgc attaaattat aggtttacaa tatgctttat ccagctatac
     4501 ctgccccaaa ttctgacaga tgcttttgcc acctctaaag gaagacccat gttcatagtg
     4561 atggagtttg tgtggactaa ccatgcaagg ttgccaagga aaaatcgctt tacgcttcca
     4621 aggtacacac taagatgaaa gtaattttag tccgtgtcca gttggattct tggcacatag
     4681 ttatcttctg ctagaacaaa ctaaaacagc tacatgccag caagggagaa aggggaagga
     4741 ggggcaaagt tttgaaattt catgtaaatt tatgctgttc aaaacgacga gttcatgact
     4801 ttgtgtatag agtaagaaat gccttttctt ttttgagaca gagtcttgct ctgtcaccca
     4861 ggctggagtg cagtggcacg atctgggctc actacaacct ccgcctcctg ggttcaagca
     4921 attctctgcc tcagcctccc gagtagctgg gattacaggt gcctgccacc acacccggct
     4981 aatttttgta tttttagtag agacggggtt tcaccatcat ggccaggctg gtcttgaact
     5041 cctgacctag taatccacct gcctccgcct cccaaagtgc tgggattaca ggcgtgagcc
     5101 actgcaccca gccagaaatg ccttctaatc tttggtttat cttaattagc caggacactt
     5161 ggagtgcatc ccgaagtacc tgatcagtgg cccctttgga atgtgtaaaa ctcagctcac
     5221 ttatatccct gcatccgcta cagagacaga atccaagctc atatgttcca tcttctctgg
     5281 ctgtatagtt taaggaatgg aaggcaccag aacagattta ttgaaatgtt tattagctga
     5341 agatttattt agacagttga ggaaaacatc agcacccagc agtaaaattg gctctcaaag
     5401 attttcttct cctgtggaaa gtcagacctc tgaggcccca tccaggtaga agtactagtg
     5461 caagaagggc ctctgctgtc cacttgtgtt tctgtgatct gtgggaacat tgttaacgcc
     5521 acatcttgac ctcaaattgt ttagctcctg gccagacacg gtggctcaca cctgtaatcc
     5581 cagcactttg agaggctgag gcaggtggat cacctgaggt taggagttcg aggccagcct
     5641 ggtcaacatg gtaaaacccc gcctctacta aaaatacaaa aattagctgg ccgtagtggc
     5701 gcacgcctgt tatcccagct actcgggagg ctgaggcagg agaattgctt gaacctgggt
     5761 ggtggaggtt gcagtgagcc gagattacac cactgcactc cagcctgggt gacaagaggg
     5821 aaactccatt aaaaaaatgt aattcccgtg tctgccatct taagtgtaaa ggtggctaaa
     5881 ttatatagaa aaataagaca atatcatttc ccaattacat tcctttccta ccgcactcta
     5941 tgatgctagc tgagattttt ccaaaagaaa atggcttaaa taaaacccta agagaaagaa
     6001 aaactttaaa tccctccaaa gctcaaaagt aatagaaaca gatgagtttg gagtcaggat
     6061 ttctctgtaa gattgcctag gctgtgtact gcacatctcc aggtgccact gttgacagag
     6121 attataacta caatgtgaag tgaatggtgc cactgacagt tatgcaaacc gtccagagca
     6181 tagccacctg atcctgctgg gattcctctt gccagtccat cagcagttcc ccttgaaagt
     6241 ttcaccaaac atcccttaaa tctgccctct cctgcccgtc cccagtggag gtcctcatca
     6301 tttttcacct gcatttttgc aggagctttc ttatatccac cttcctcctt ttctctcagc
     6361 ccatcatcta gctacacagt ctccagggta agctttcaga aaggcaatct cttgtctgta
     6421 aaacctaagc aggaccaagg ccaagtttct tagcctgaaa aatgtgcttt tctgactgaa
     6481 ctgttcaggc actgactcta catataatta tgcttttcta ccccctcaca ctcaacactt
     6541 tgactccagc aatcccaaat ccccagatcc ctaagtgtgc tgtgctattt tcacgtggct
     6601 ctcagacttg gccagtgctg tttccatttt ggtctttatt ccccacatct ctgcctgggg
     6661 ggtagattct accctgaaaa atgttcttgg cacagccttg caaactcctc ctccactcag
     6721 cctctgcctg gatgcccttg attgttccat gtcctcagca taccatgttt gtctttccca
     6781 gcactgacct accatgtgtc acccctgctt ggctgtacct tccatgaggc taggactatg
     6841 tgtctccttt gttgactgct gttgccctag catcttgcac agttccttgc acacaattag
     6901 agctctataa atgtcaaata aatgtgttat aattatatgt ttaagatagt tgttcaaata
     6961 aactctaaat aaccccaa
//
LOCUS       NM_000145               2762 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens follicle stimulating hormone receptor (FSHR),
            transcript variant 1, mRNA.
ACCESSION   NM_000145
VERSION     NM_000145.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2762)
  AUTHORS   Kaur M, Singh S and Kaur A.
  TITLE     Polymorphisms in FSHR modulating susceptibility to polycystic ovary
            syndrome: an updated meta-analysis
  JOURNAL   J Ovarian Res 16 (1), 183 (2023)
   PUBMED   37653412
  REMARK    GeneRIF: Polymorphisms in FSHR modulating susceptibility to
            polycystic ovary syndrome: an updated meta-analysis. Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2762)
  AUTHORS   Amin A, Lone A, Wani UM, Farooq F, Shah R, Kumar R and Qadri RA.
  TITLE     Ala307Thr variation modulates FSHR structure and impairs its binding
            affinity for FSH: Implications in polycystic ovarian syndrome
  JOURNAL   Cell Biochem Funct 41 (6), 633-641 (2023)
   PUBMED   37287186
  REMARK    GeneRIF: Ala307Thr variation modulates FSHR structure and impairs
            its binding affinity for FSH: Implications in polycystic ovarian
            syndrome.
REFERENCE   3  (bases 1 to 2762)
  AUTHORS   Kaur M, Singh S, Kaur R, Beri A and Kaur A.
  TITLE     Analyzing the Impact of FSHR Variants on Polycystic Ovary Syndrome-a
            Case-Control Study in Punjab
  JOURNAL   Reprod Sci 30 (8), 2563-2572 (2023)
   PUBMED   36821034
  REMARK    GeneRIF: Analyzing the Impact of FSHR Variants on Polycystic Ovary
            Syndrome-a Case-Control Study in Punjab.
REFERENCE   4  (bases 1 to 2762)
  AUTHORS   Tedjawirja VN, Mieremet A, Rombouts KB, Yap C, Neele AE, Northoff
            BH, Chen HJ, Vos M, Klaver D, Yeung KK, Balm R and de Waard V.
  TITLE     Exploring the expression and potential function of follicle
            stimulating hormone receptor in extragonadal cells related to
            abdominal aortic aneurysm
  JOURNAL   PLoS One 18 (5), e0285607 (2023)
   PUBMED   37228156
  REMARK    GeneRIF: Exploring the expression and potential function of follicle
            stimulating hormone receptor in extragonadal cells related to
            abdominal aortic aneurysm. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2762)
  AUTHORS   Neves AR, Garcia S, Vuong LT, Blockeel C, Arroyo G, Spits C, Pham
            TD, Ho TM, Tournaye H and Polyzos NP.
  TITLE     Association between sequence variants in the FSHR gene and
            reproductive outcomes following IVF in predicted normoresponders
  JOURNAL   Reprod Biomed Online 46 (5), 826-834 (2023)
   PUBMED   37130623
  REMARK    GeneRIF: Association between sequence variants in the FSHR gene and
            reproductive outcomes following IVF in predicted normoresponders.
REFERENCE   6  (bases 1 to 2762)
  AUTHORS   Gromoll J, Dankbar B and Gudermann T.
  TITLE     Characterization of the 5' flanking region of the human
            follicle-stimulating hormone receptor gene
  JOURNAL   Mol Cell Endocrinol 102 (1-2), 93-102 (1994)
   PUBMED   7926278
REFERENCE   7  (bases 1 to 2762)
  AUTHORS   Gromoll J, Gudermann T and Nieschlag E.
  TITLE     Molecular cloning of a truncated isoform of the human follicle
            stimulating hormone receptor
  JOURNAL   Biochem Biophys Res Commun 188 (3), 1077-1083 (1992)
   PUBMED   1359889
REFERENCE   8  (bases 1 to 2762)
  AUTHORS   Kelton CA, Cheng SV, Nugent NP, Schweickhardt RL, Rosenthal JL,
            Overton SA, Wands GD, Kuzeja JB, Luchette CA and Chappel SC.
  TITLE     The cloning of the human follicle stimulating hormone receptor and
            its expression in COS-7, CHO, and Y-1 cells
  JOURNAL   Mol Cell Endocrinol 89 (1-2), 141-151 (1992)
   PUBMED   1301382
REFERENCE   9  (bases 1 to 2762)
  AUTHORS   Tilly JL, Aihara T, Nishimori K, Jia XC, Billig H, Kowalski KI,
            Perlas EA and Hsueh AJ.
  TITLE     Expression of recombinant human follicle-stimulating hormone
            receptor: species-specific ligand binding, signal transduction, and
            identification of multiple ovarian messenger ribonucleic acid
            transcripts
  JOURNAL   Endocrinology 131 (2), 799-806 (1992)
   PUBMED   1322283
REFERENCE   10  (bases 1 to 2762)
  AUTHORS   Minegishi T, Nakamura K, Takakura Y, Ibuki Y, Igarashi M and
            Minegish T [corrected to Minegishi T].
  TITLE     Cloning and sequencing of human FSH receptor cDNA
  JOURNAL   Biochem Biophys Res Commun 175 (3), 1125-1130 (1991)
   PUBMED   1709010
  REMARK    Erratum:[Biochem Biophys Res Commun 1994 Jun 15;201(2):1057]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK292562.1, BC118548.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145245 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000406846.7/ ENSP00000384708.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB064473.1, BC118548.1,
            BC125270.1, AK292562.1 and AC007189.6.
            On Aug 31, 2019 this sequence version replaced NM_000145.3.
            Summary: The protein encoded by this gene belongs to family 1 of
            G-protein coupled receptors. It is the receptor for follicle
            stimulating hormone and functions in gonad development. Mutations
            in this gene cause ovarian dysgenesis type 1, and also ovarian
            hyperstimulation syndrome. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Mar 2010].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 5' end.
FEATURES             Location/Qualifiers
     source          1..2762
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.3"
     gene            1..2762
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="follicle stimulating hormone receptor"
                     /db_xref="GeneID:2492"
                     /db_xref="HGNC:HGNC:3969"
                     /db_xref="MIM:136435"
     misc_feature    36..38
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="upstream in-frame stop codon"
     CDS             99..2186
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; follitropin receptor; FSH receptor"
                     /codon_start=1
                     /product="follicle-stimulating hormone receptor isoform 1
                     precursor"
                     /protein_id="NP_000136.2"
                     /db_xref="CCDS:CCDS1843.1"
                     /db_xref="GeneID:2492"
                     /db_xref="HGNC:HGNC:3969"
                     /db_xref="MIM:136435"
                     /translation="MALLLVSLLAFLSLGSGCHHRICHCSNRVFLCQESKVTEIPSDLP
                     RNAIELRFVLTKLRVIQKGAFSGFGDLEKIEISQNDVLEVIEADVFSNLPKLHEIRIEK
                     ANNLLYINPEAFQNLPNLQYLLISNTGIKHLPDVHKIHSLQKVLLDIQDNINIHTIERN
                     SFVGLSFESVILWLNKNGIQEIHNCAFNGTQLDELNLSDNNNLEELPNDVFHGASGPVI
                     LDISRTRIHSLPSYGLENLKKLRARSTYNLKKLPTLEKLVALMEASLTYPSHCCAFANW
                     RRQISELHPICNKSILRQEVDYMTQARGQRSSLAEDNESSYSRGFDMTYTEFDYDLCNE
                     VVDVTCSPKPDAFNPCEDIMGYNILRVLIWFISILAITGNIIVLVILTTSQYKLTVPRF
                     LMCNLAFADLCIGIYLLLIASVDIHTKSQYHNYAIDWQTGAGCDAAGFFTVFASELSVY
                     TLTAITLERWHTITHAMQLDCKVQLRHAASVMVMGWIFAFAAALFPIFGISSYMKVSIC
                     LPMDIDSPLSQLYVMSLLVLNVLAFVVICGCYIHIYLTVRNPNIVSSSSDTRIAKRMAM
                     LIFTDFLCMAPISFFAISASLKVPLITVSKAKILLVLFHPINSCANPFLYAIFTKNFRR
                     DFFILLSKCGCYEMQAQIYRTETSSTVHNTHPRNGHCSSAPRVTSGSTYILVPLSHLAQ
                     N"
     sig_peptide     99..149
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     150..2183
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /product="follicle-stimulating hormone receptor isoform 1"
     misc_feature    243..314
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23945.3);
                     Region: LRR 1"
     misc_feature    315..389
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23945.3);
                     Region: LRR 2"
     misc_feature    390..452
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23945.3);
                     Region: LRR 3"
     misc_feature    453..527
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23945.3);
                     Region: LRR 4"
     misc_feature    528..605
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23945.3);
                     Region: LRR 5"
     misc_feature    606..674
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23945.3);
                     Region: LRR 6"
     misc_feature    669..671
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15662415,
                     ECO:0000269|PubMed:24692546, ECO:0007744|PDB:4MQW;
                     propagated from UniProtKB/Swiss-Prot (P23945.3);
                     glycosylation site"
     misc_feature    675..746
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23945.3);
                     Region: LRR 7"
     misc_feature    693..695
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23945.3); glycosylation site"
     misc_feature    747..818
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23945.3);
                     Region: LRR 8"
     misc_feature    819..875
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23945.3);
                     Region: LRR 9"
     misc_feature    975..977
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P23945.3); glycosylation site"
     misc_feature    1050..1052
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23945.3); glycosylation site"
     misc_feature    1101..1103
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000305|PubMed:11847099; propagated from
                     UniProtKB/Swiss-Prot (P23945.3); sulfatation site"
     misc_feature    1197..1259
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23945.3);
                     transmembrane region"
     misc_feature    1293..1361
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23945.3);
                     transmembrane region"
     misc_feature    1428..1493
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23945.3);
                     transmembrane region"
     misc_feature    1554..1622
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23945.3);
                     transmembrane region"
     misc_feature    1683..1748
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23945.3);
                     transmembrane region"
     misc_feature    1818..1889
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23945.3);
                     transmembrane region"
     misc_feature    1923..1988
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23945.3);
                     transmembrane region"
     regulatory      2386..2391
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="hexamer: ATTAAA"
     polyA_site      2411
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="major polyA site"
ORIGIN
        1 agatctcttc tcataagggc actgtgtgga gcttctgaga tctgtggagg tttttctctg
       61 caaatgcagg aagaaatcag gtggatggat gcataattat ggccctgctc ctggtctctt
      121 tgctggcatt cctgagcttg ggctcaggat gtcatcatcg gatctgtcac tgctctaaca
      181 gggtttttct ctgccaagag agcaaggtga cagagattcc ttctgacctc ccgaggaatg
      241 ccattgaact gaggtttgtc ctcaccaagc ttcgagtcat ccaaaaaggt gcattttcag
      301 gatttgggga cctggagaaa atagagatct ctcagaatga tgtcttggag gtgatagagg
      361 cagatgtgtt ctccaacctt cccaaattac atgaaattag aattgaaaag gccaacaacc
      421 tgctctacat caaccctgag gccttccaga accttcccaa ccttcaatat ctgttaatat
      481 ccaacacagg tattaagcac cttccagatg ttcacaagat tcattctctc caaaaagttt
      541 tacttgacat tcaagataac ataaacatcc acacaattga aagaaattct ttcgtggggc
      601 tgagctttga aagtgtgatt ctatggctga ataagaatgg gattcaagaa atacacaact
      661 gtgcattcaa tggaacccaa ctagatgagc tgaatctaag cgataataat aatttagaag
      721 aattgcctaa tgatgttttc cacggagcct ctggaccagt cattctagat atttcaagaa
      781 caaggatcca ttccctgcct agctatggct tagaaaatct taagaagctg agggccaggt
      841 cgacttacaa cttaaaaaag ctgcctactc tggaaaagct tgtcgccctc atggaagcca
      901 gcctcaccta tcccagccat tgctgtgcct ttgcaaactg gagacggcaa atctctgagc
      961 ttcatccaat ttgcaacaaa tctattttaa ggcaagaagt tgattatatg actcaggcta
     1021 ggggtcagag atcctctctg gcagaagaca atgagtccag ctacagcaga ggatttgaca
     1081 tgacgtacac tgagtttgac tatgacttat gcaatgaagt ggttgacgtg acctgctccc
     1141 ctaagccaga tgcattcaac ccatgtgaag atatcatggg gtacaacatc ctcagagtcc
     1201 tgatatggtt tatcagcatc ctggccatca ctgggaacat catagtgcta gtgatcctaa
     1261 ctaccagcca atataaactc acagtcccca ggttccttat gtgcaacctg gcctttgctg
     1321 atctctgcat tggaatctac ctgctgctca ttgcatcagt tgatatccat accaagagcc
     1381 aatatcacaa ctatgccatt gactggcaaa ctggggcagg ctgtgatgct gctggctttt
     1441 tcactgtctt tgccagtgag ctgtcagtct acactctgac agctatcacc ttggaaagat
     1501 ggcataccat cacgcatgcc atgcagctgg actgcaaggt gcagctccgc catgctgcca
     1561 gtgtcatggt gatgggctgg atttttgctt ttgcagctgc cctctttccc atctttggca
     1621 tcagcagcta catgaaggtg agcatctgcc tgcccatgga tattgacagc cctttgtcac
     1681 agctgtatgt catgtccctc cttgtgctca atgtcctggc ctttgtggtc atctgtggct
     1741 gctatatcca catctacctc acagtgcgga accccaacat cgtgtcctcc tctagtgaca
     1801 ccaggatcgc caagcgcatg gccatgctca tcttcactga cttcctctgc atggcaccca
     1861 tttctttctt tgccatttct gcctccctca aggtgcccct catcactgtg tccaaagcaa
     1921 agattctgct ggttctgttt caccccatca actcctgtgc caaccccttc ctctatgcca
     1981 tctttaccaa aaactttcgc agagatttct tcattctgct gagcaagtgt ggctgctatg
     2041 aaatgcaagc ccaaatttat aggacagaaa cttcatccac tgtccacaac acccatccaa
     2101 ggaatggcca ctgctcttca gctcccagag tcaccagtgg ttccacttac atacttgtcc
     2161 ctctaagtca tttagcccaa aactaaaaca caatgtgaaa atgtatctga gtattgaatg
     2221 ataattcagt cttgcctttg aagggtatgt cacaaagagc tgacagtgct tctacacatt
     2281 tcatctaatt taatattcct ggcatacctt taaggtaaat tggtcaggaa ctattaattc
     2341 catgtgatac attaggaagc tgaattatta gtaacaacaa taataattaa agaatgcaat
     2401 actgtattac atattttatc cttatatatg ttatttttgc acgttatgtt caaagtgctt
     2461 ttgttcagat atctcaagtg atccctgtta aataagcagg acagggatta ttcttggagt
     2521 tttacaaatg aggaaaccac gactcaaaga gttaagtgac ttgttcaaaa ttgtttagtt
     2581 tgtaagaggc agagccagga ttaggtattc cgactcccag agaatttccc agagaagcac
     2641 catggtattc attcattcat tcattcaaca aatattaatt gaacacccat ctgaagcctt
     2701 tgtaatgcgt cagtgtggat aggctgaaat acatttccca gatttccctt cctcatgtgt
     2761 tt
//
LOCUS       NM_000146                871 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens ferritin light chain (FTL), mRNA.
ACCESSION   NM_000146
VERSION     NM_000146.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 871)
  AUTHORS   Swanson MEV, Mrkela M, Murray HC, Cao MC, Turner C, Curtis MA, Faull
            RLM, Walker AK and Scotter EL.
  TITLE     Microglial CD68 and L-ferritin upregulation in response to
            phosphorylated-TDP-43 pathology in the amyotrophic lateral sclerosis
            brain
  JOURNAL   Acta Neuropathol Commun 11 (1), 69 (2023)
   PUBMED   37118836
  REMARK    GeneRIF: Microglial CD68 and L-ferritin upregulation in response to
            phosphorylated-TDP-43 pathology in the amyotrophic lateral sclerosis
            brain. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 871)
  AUTHORS   Yang X, Ding Y, Sun L, Shi M, Zhang P, Huang Z, Wang J, He A, Wang
            J, Wei J, Liu M, Liu J, Wang G, Yang X and Li R.
  TITLE     Ferritin light chain deficiency-induced ferroptosis is involved in
            preeclampsia pathophysiology by disturbing uterine spiral artery
            remodelling
  JOURNAL   Redox Biol 58, 102555 (2022)
   PUBMED   36446230
  REMARK    GeneRIF: Ferritin light chain deficiency-induced ferroptosis is
            involved in preeclampsia pathophysiology by disturbing uterine
            spiral artery remodelling.
REFERENCE   3  (bases 1 to 871)
  AUTHORS   Yang Y, Lin T, Kuang P and Chen X.
  TITLE     Ferritin L-subunit gene mutation and hereditary hyperferritinaemia
            cataract syndrome (HHCS): a case report and literature review
  JOURNAL   Hematology 26 (1), 896-903 (2021)
   PUBMED   34789084
  REMARK    GeneRIF: Ferritin L-subunit gene mutation and hereditary
            hyperferritinaemia cataract syndrome (HHCS): a case report and
            literature review. Review article
REFERENCE   4  (bases 1 to 871)
  AUTHORS   Otsu W, Ishida K, Chinen N, Nakamura S, Shimazawa M, Tsusaki H and
            Hara H.
  TITLE     Cigarette smoke extract and heated tobacco products promote ferritin
            cleavage and iron accumulation in human corneal epithelial cells
  JOURNAL   Sci Rep 11 (1), 18555 (2021)
   PUBMED   34535730
  REMARK    GeneRIF: Cigarette smoke extract and heated tobacco products promote
            ferritin cleavage and iron accumulation in human corneal epithelial
            cells. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 871)
  AUTHORS   Gregory,A. and Hayflick,S.
  TITLE     Neurodegeneration with Brain Iron Accumulation Disorders Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   23447832
REFERENCE   6  (bases 1 to 871)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 871)
  AUTHORS   Chinnery,P.F.
  TITLE     Neuroferritinopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301320
REFERENCE   8  (bases 1 to 871)
  AUTHORS   Gatti RA, Shaked R, Mohandas TK and Salser W.
  TITLE     Human ferritin genes: chromosomal assignments and polymorphisms
  JOURNAL   Am J Hum Genet 41 (4), 654-667 (1987)
   PUBMED   2821803
REFERENCE   9  (bases 1 to 871)
  AUTHORS   Lebo,R.V., Kan,Y.W., Cheung,M.C., Jain,S.K. and Drysdale,J.
  TITLE     Human ferritin light chain gene sequences mapped to several sorted
            chromosomes
  JOURNAL   Hum Genet 71 (4), 325-328 (1985)
   PUBMED   3000916
REFERENCE   10  (bases 1 to 871)
  AUTHORS   Arosio,P., Adelman,T.G. and Drysdale,J.W.
  TITLE     On ferritin heterogeneity. Further evidence for heteropolymers
  JOURNAL   J Biol Chem 253 (12), 4451-4458 (1978)
   PUBMED   659425
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.170280.1,
            SRR3476690.1169062.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000331825.11/ ENSP00000366525.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK130191.1 and BC004245.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000146.3.
            Summary: This gene encodes the light subunit of the ferritin
            protein. Ferritin is the major intracellular iron storage protein
            in prokaryotes and eukaryotes. It is composed of 24 subunits of the
            heavy and light ferritin chains. Variation in ferritin subunit
            composition may affect the rates of iron uptake and release in
            different tissues. A major function of ferritin is the storage of
            iron in a soluble and nontoxic state. Defects in this light chain
            ferritin gene are associated with several neurodegenerative
            diseases and hyperferritinemia-cataract syndrome. This gene has
            multiple pseudogenes. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..871
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..871
                     /gene="FTL"
                     /gene_synonym="FTL1; LFTD; NBIA3"
                     /note="ferritin light chain"
                     /db_xref="GeneID:2512"
                     /db_xref="HGNC:HGNC:3999"
                     /db_xref="MIM:134790"
     CDS             200..727
                     /gene="FTL"
                     /gene_synonym="FTL1; LFTD; NBIA3"
                     /note="ferritin light polypeptide-like 3; ferritin L
                     subunit; ferritin L-chain; ferritin, light polypeptide;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="ferritin light chain"
                     /protein_id="NP_000137.2"
                     /db_xref="CCDS:CCDS33070.1"
                     /db_xref="GeneID:2512"
                     /db_xref="HGNC:HGNC:3999"
                     /db_xref="MIM:134790"
                     /translation="MSSQIRQNYSTDVEAAVNSLVNLYLQASYTYLSLGFYFDRDDVAL
                     EGVSHFFRELAEEKREGYERLLKMQNQRGGRALFQDIKKPAEDEWGKTPDAMKAAMALE
                     KKLNQALLDLHALGSARTDPHLCDFLETHFLDEEVKLIKKMGDHLTNLHRLGGPEAGLG
                     EYLFERLTLKHD"
     misc_feature    203..205
                     /gene="FTL"
                     /gene_synonym="FTL1; LFTD; NBIA3"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:6653779; propagated from
                     UniProtKB/Swiss-Prot (P02792.2); acetylation site"
     misc_feature    359..382
                     /gene="FTL"
                     /gene_synonym="FTL1; LFTD; NBIA3"
                     /note="propagated from UniProtKB/Swiss-Prot (P02792.2);
                     Region: Catalytic site for iron oxidation"
     regulatory      853..858
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FTL"
                     /gene_synonym="FTL1; LFTD; NBIA3"
                     /note="hexamer: AATAAA"
     polyA_site      871
                     /gene="FTL"
                     /gene_synonym="FTL1; LFTD; NBIA3"
                     /note="major polyA site"
ORIGIN
        1 gcagttcggc ggtcccgcgg gtctgtctct tgcttcaaca gtgtttggac ggaacagatc
       61 cggggactct cttccagcct ccgaccgccc tccgatttcc tctccgcttg caacctccgg
      121 gaccatcttc tcggccatct cctgcttctg ggacctgcca gcaccgtttt tgtggttagc
      181 tccttcttgc caaccaacca tgagctccca gattcgtcag aattattcca ccgacgtgga
      241 ggcagccgtc aacagcctgg tcaatttgta cctgcaggcc tcctacacct acctctctct
      301 gggcttctat ttcgaccgcg atgatgtggc tctggaaggc gtgagccact tcttccgcga
      361 attggccgag gagaagcgcg agggctacga gcgtctcctg aagatgcaaa accagcgtgg
      421 cggccgcgct ctcttccagg acatcaagaa gccagctgaa gatgagtggg gtaaaacccc
      481 agacgccatg aaagctgcca tggccctgga gaaaaagctg aaccaggccc ttttggatct
      541 tcatgccctg ggttctgccc gcacggaccc ccatctctgt gacttcctgg agactcactt
      601 cctagatgag gaagtgaagc ttatcaagaa gatgggtgac cacctgacca acctccacag
      661 gctgggtggc ccggaggctg ggctgggcga gtatctcttc gaaaggctca ctctcaagca
      721 cgactaagag ccttctgagc ccagcgactt ctgaagggcc ccttgcaaag taatagggct
      781 tctgcctaag cctctccctc cagccaatag gcagctttct taactatcct aacaagcctt
      841 ggaccaaatg gaaataaagc tttttgatgc a
//
LOCUS       NM_000147               2043 bp    mRNA    linear   PRI 17-SEP-2023
DEFINITION  Homo sapiens alpha-L-fucosidase 1 (FUCA1), transcript variant 1,
            mRNA.
ACCESSION   NM_000147
VERSION     NM_000147.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2043)
  AUTHORS   do Rosario MC, Purushothama G, Narayanan DL, Siddiqui S, Girisha KM
            and Shukla A.
  TITLE     Extended analysis of exome sequencing data reveals a novel
            homozygous deletion of exons 3 and 4 in FUCA1 gene causing
            fucosidosis in an Indian family
  JOURNAL   Clin Dysmorphol 32 (3), 112-115 (2023)
   PUBMED   36876340
  REMARK    GeneRIF: Extended analysis of exome sequencing data reveals a novel
            homozygous deletion of exons 3 and 4 in FUCA1 gene causing
            fucosidosis in an Indian family.
REFERENCE   2  (bases 1 to 2043)
  AUTHORS   Barelier S and Sulzenbacher G.
  TITLE     The long-awaited structure of human fucosidase FucA1 opens novel
            avenues for the treatment of fucosidosis
  JOURNAL   Structure 30 (10), 1369-1371 (2022)
   PUBMED   36206736
  REMARK    GeneRIF: The long-awaited structure of human fucosidase FucA1 opens
            novel avenues for the treatment of fucosidosis.
REFERENCE   3  (bases 1 to 2043)
  AUTHORS   Armstrong Z, Meek RW, Wu L, Blaza JN and Davies GJ.
  TITLE     Cryo-EM structures of human fucosidase FucA1 reveal insight into
            substrate recognition and catalysis
  JOURNAL   Structure 30 (10), 1443-1451 (2022)
   PUBMED   35907402
  REMARK    GeneRIF: Cryo-EM structures of human fucosidase FucA1 reveal insight
            into substrate recognition and catalysis.
REFERENCE   4  (bases 1 to 2043)
  AUTHORS   Prabhu SK, Li C, Zong G, Zhang R and Wang LX.
  TITLE     Comparative studies on the substrate specificity and defucosylation
            activity of three alpha-l-fucosidases using synthetic fucosylated
            glycopeptides and glycoproteins as substrates
  JOURNAL   Bioorg Med Chem 42, 116243 (2021)
   PUBMED   34126284
  REMARK    GeneRIF: Comparative studies on the substrate specificity and
            defucosylation activity of three alpha-l-fucosidases using synthetic
            fucosylated glycopeptides and glycoproteins as substrates.
REFERENCE   5  (bases 1 to 2043)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24501781
REFERENCE   6  (bases 1 to 2043)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 2043)
  AUTHORS   Yang M, Allen H and DiCioccio RA.
  TITLE     A mutation generating a stop codon in the alpha-L-fucosidase gene of
            a fucosidosis patient
  JOURNAL   Biochem Biophys Res Commun 189 (2), 1063-1068 (1992)
   PUBMED   1281988
REFERENCE   8  (bases 1 to 2043)
  AUTHORS   Willems PJ, Gatti R, Darby JK, Romeo G, Durand P, Dumon JE and
            O'Brien JS.
  TITLE     Fucosidosis revisited: a review of 77 patients
  JOURNAL   Am J Med Genet 38 (1), 111-131 (1991)
   PUBMED   2012122
  REMARK    Review article
REFERENCE   9  (bases 1 to 2043)
  AUTHORS   Fukushima H, Nishimoto J and Okada S.
  TITLE     Sequencing and expression of a full-length cDNA for human
            alpha-L-fucosidase
  JOURNAL   J Inherit Metab Dis 13 (5), 761-765 (1990)
   PUBMED   2174090
REFERENCE   10  (bases 1 to 2043)
  AUTHORS   Kretz KA, Darby JK, Willems PJ and O'Brien JS.
  TITLE     Characterization of EcoRI mutation in fucosidosis patients: a stop
            codon in the open reading frame
  JOURNAL   J Mol Neurosci 1 (3), 177-180 (1989)
   PUBMED   2642067
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC017338.2, AB074175.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2156266 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374479.4/ ENSP00000363603.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC397571.1 and BC017338.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 27, 2020 this sequence version replaced NM_000147.4.
            Summary: The protein encoded by this gene is a lysosomal enzyme
            involved in the degradation of fucose-containing glycoproteins and
            glycolipids. Mutations in this gene are associated with fucosidosis
            (FUCA1D), which is an autosomal recessive lysosomal storage
            disease. A pseudogene of this locus is present on chr 2.[provided
            by RefSeq, Oct 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2043
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..2043
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /note="alpha-L-fucosidase 1"
                     /db_xref="GeneID:2517"
                     /db_xref="HGNC:HGNC:4006"
                     /db_xref="MIM:612280"
     CDS             5..1405
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /EC_number="3.2.1.51"
                     /note="tissue alpha-L-fucosidase; alpha-L-fucosidase I;
                     fucosidase, alpha-L- 1, tissue; tissue fucosidase;
                     a-L-fucosidase 1; I+/--L-fucosidase 1; alpha-L-fucoside
                     fucohydrolase 1"
                     /codon_start=1
                     /product="tissue alpha-L-fucosidase precursor"
                     /protein_id="NP_000138.2"
                     /db_xref="CCDS:CCDS244.2"
                     /db_xref="GeneID:2517"
                     /db_xref="HGNC:HGNC:4006"
                     /db_xref="MIM:612280"
                     /translation="MRAPGMRSRPAGPALLLLLLFLGAAESVRRAQPPRRYTPDWPSLD
                     SRPLPAWFDEAKFGVFIHWGVFSVPAWGSEWFWWHWQGEGRPQYQRFMRDNYPPGFSYA
                     DFGPQFTARFFHPEEWADLFQAAGAKYVVLTTKHHEGFTNWPSPVSWNWNSKDVGPHRD
                     LVGELGTALRKRNIRYGLYHSLLEWFHPLYLLDKKNGFKTQHFVSAKTMPELYDLVNSY
                     KPDLIWSDGEWECPDTYWNSTNFLSWLYNDSPVKDEVVVNDRWGQNCSCHHGGYYNCED
                     KFKPQSLPDHKWEMCTSIDKFSWGYRRDMALSDVTEESEIISELVQTVSLGGNYLLNIG
                     PTKDGLIVPIFQERLLAVGKWLSINGEAIYASKPWRVQWEKNTTSVWYTSKGSAVYAIF
                     LHWPENGVLNLESPITTSTTKITMLGIQGDLKWSTDPDKGLFISLPQLPPSAVPAEFAW
                     TIKLTGVK"
     sig_peptide     5..85
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     86..1402
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /product="tissue alpha-L-fucosidase"
     misc_feature    512..514
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P04066.4); phosphorylation site"
     misc_feature    725..727
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04066.4); glycosylation site"
     misc_feature    806..808
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P04066.4); glycosylation site"
     misc_feature    890..892
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /note="May be important for catalysis; propagated from
                     UniProtKB/Swiss-Prot (P04066.4); other site"
     misc_feature    1148..1150
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04066.4); glycosylation site"
     regulatory      2003..2008
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /note="hexamer: AATAAA"
     polyA_site      2043
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /note="major polyA site"
ORIGIN
        1 agcgatgcgg gctccgggga tgaggtcgcg gccggcgggt cccgcgctgt tgctgctgct
       61 gctcttcctc ggagcggccg agtcggtgcg tcgggcccag cctccgcgcc gctacacccc
      121 agactggccg agcctggatt ctcggccgct gccggcctgg ttcgacgaag ccaagttcgg
      181 ggtgttcatc cactggggcg tgttctcggt gcccgcctgg ggcagcgagt ggttctggtg
      241 gcactggcag ggcgaggggc ggccgcagta ccagcgcttc atgcgcgaca actacccgcc
      301 cggcttcagc tacgccgact tcggaccgca gttcactgcg cgcttcttcc acccggagga
      361 gtgggccgac ctcttccagg ccgcgggcgc caagtatgta gttttgacga caaagcatca
      421 cgaaggcttc acaaactggc cgagtcctgt gtcttggaac tggaactcca aagacgtggg
      481 gcctcatcgg gatttggttg gtgaattggg aacagctctc cggaagagga acatccgcta
      541 tggactatac cactcactct tagagtggtt ccatccactc tatctacttg ataagaaaaa
      601 tggcttcaaa acacagcatt ttgtcagtgc aaaaacaatg ccagagctgt acgaccttgt
      661 taacagctat aaacctgatc tgatctggtc tgatggggag tgggaatgtc ctgatactta
      721 ctggaactcc acaaattttc tttcatggct ctacaatgac agccctgtca aggatgaggt
      781 ggtagtaaat gaccgatggg gtcagaactg ttcctgtcac catggaggat actataactg
      841 tgaagataaa ttcaagccac agagcttgcc agatcacaag tgggagatgt gcaccagcat
      901 tgacaagttt tcctggggct atcgtcgtga catggcattg tctgatgtta cagaagaatc
      961 tgaaatcatt tcggaactgg ttcagacagt aagtttggga ggcaactatc ttctgaacat
     1021 tggaccaact aaagatggac tgattgttcc catcttccaa gaaaggcttc ttgctgttgg
     1081 gaaatggctg agcatcaatg gggaggctat ctatgcctcc aaaccatggc gggtgcaatg
     1141 ggaaaagaac acaacatctg tatggtatac ctcaaaggga tcggctgttt atgccatttt
     1201 tctgcactgg ccagaaaatg gagtcttaaa ccttgaatcc cccataacta cctcaactac
     1261 aaagataaca atgctgggaa ttcaaggaga tctgaagtgg tccacagatc cagataaagg
     1321 tctcttcatc tctctacccc agttgccacc ctctgctgtc cccgcagagt ttgcttggac
     1381 tataaagctg acaggagtga agtaatcatt tgagtgcaag aagaaagagg cgctgctcac
     1441 tgttttcctg cttcagtttt tctcttatag taccatcact ataatcaacg aacttctctt
     1501 ctccacccag agatggcttt tccaacacat tttaattaaa ggaactgagt acattaccct
     1561 gatgtctaaa tggaccaaag atctgagatc cattgtgatt atatctgtat caggtcagca
     1621 gaagaaggaa ctgagcagtt gaactctgag ttcatcaatt gtaatatttg gaaattatct
     1681 acaatggaat cttccctctg ttctctgata acctacttgc ttactcaatg cctttaagcc
     1741 aagtcaccct gttgcctatg ggaggaggtg gaaggatttg gcaagctcaa ccacatgcta
     1801 tttagttagc atcagttgtc accaacagtc tttctgcaaa gggcaggaga gctttggggg
     1861 aaaggaaaag gcttaccagg ctgctatggt caactcttca gaaattttca gagcaatcta
     1921 aaagcgccaa aattcgctat gtttacagtg atactattaa gaaaatgaat gtgattctgc
     1981 tctgtctttt taagtatgat caaataaaaa atttgtacat cacaatcatt tctaccaaaa
     2041 aaa
//
LOCUS       NM_000150               3326 bp    mRNA    linear   PRI 22-JAN-2023
DEFINITION  Homo sapiens fucosyltransferase 6 (FUT6), transcript variant 1,
            mRNA.
ACCESSION   NM_000150
VERSION     NM_000150.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3326)
  AUTHORS   Wang Q, Liao C, Tan Z, Li X, Guan X, Li H, Tian Z, Liu J and An J.
  TITLE     FUT6 inhibits the proliferation, migration, invasion, and
            EGF-induced EMT of head and neck squamous cell carcinoma (HNSCC) by
            regulating EGFR/ERK/STAT signaling pathway
  JOURNAL   Cancer Gene Ther 30 (1), 182-191 (2023)
   PUBMED   36151332
  REMARK    GeneRIF: FUT6 inhibits the proliferation, migration, invasion, and
            EGF-induced EMT of head and neck squamous cell carcinoma (HNSCC) by
            regulating EGFR/ERK/STAT signaling pathway.
REFERENCE   2  (bases 1 to 3326)
  AUTHORS   Puan KJ, San Luis B, Yusof N, Kumar D, Andiappan AK, Lee W, Cajic S,
            Vuckovic D, Chan J, Dollner T, Hou HW, Jiang Y, Tian C, Rapp E,
            Poidinger M, Wang Y, Soranzo N, Lee B and Rotzschke O.
  CONSRTM   23andMe Research Team
  TITLE     FUT6 deficiency compromises basophil function by selectively
            abrogating their sialyl-Lewis x expression
  JOURNAL   Commun Biol 4 (1), 832 (2021)
   PUBMED   34215830
  REMARK    GeneRIF: FUT6 deficiency compromises basophil function by
            selectively abrogating their sialyl-Lewis x expression. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 3326)
  AUTHORS   Al-Amoodi AS, Sakashita K, Ali AJ, Zhou R, Lee JM, Tehseen M, Li M,
            Belmonte JCI, Kusakabe T and Merzaban JS.
  TITLE     Using Eukaryotic Expression Systems to Generate Human
            alpha1,3-Fucosyltransferases That Effectively Create
            Selectin-Binding Glycans on Stem Cells
  JOURNAL   Biochemistry 59 (39), 3757-3771 (2020)
   PUBMED   32901486
  REMARK    GeneRIF: Using Eukaryotic Expression Systems to Generate Human
            alpha1,3-Fucosyltransferases That Effectively Create
            Selectin-Binding Glycans on Stem Cells.
REFERENCE   4  (bases 1 to 3326)
  AUTHORS   Pan S, Liu Y, Liu Q, Xiao Y, Liu B, Ren X, Qi X, Zhou H, Zeng C and
            Jia L.
  TITLE     HOTAIR/miR-326/FUT6 axis facilitates colorectal cancer progression
            through regulating fucosylation of CD44 via PI3K/AKT/mTOR pathway
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1866 (5), 750-760 (2019)
   PUBMED   30742932
  REMARK    GeneRIF: findings indicated that HOTAIR/miR-326/FUT6 axis mediated
            colorectal cancer (CRC) procession through alpha1, 3-fucosylated
            CD44 via PI3K/AKT/mTOR pathway. This work rendered new therapeutic
            targets for CRC. Erratum:[Biochim Biophys Acta Mol Cell Res. 2019
            Aug;1866(8):1353. PMID: 30954283]
REFERENCE   5  (bases 1 to 3326)
  AUTHORS   Gao HF, Wang QY, Zhang K, Chen LY, Cheng CS, Chen H, Meng ZQ, Zhou
            SM and Chen Z.
  TITLE     Overexpressed N-fucosylation on the cell surface driven by FUT3, 5,
            and 6 promotes cell motilities in metastatic pancreatic cancer cell
            lines
  JOURNAL   Biochem Biophys Res Commun 511 (2), 482-489 (2019)
   PUBMED   30808544
  REMARK    GeneRIF: Overexpressed N-fucosylation on cell surface promotes the
            migration and invasion of metastatic pancreatic cancer cells.
            Overexpressed N-fucosylation is driven by gene FUT3, 5, and 6 in
            metastatic pancreatic cancer cells.
REFERENCE   6  (bases 1 to 3326)
  AUTHORS   Cameron HS, Szczepaniak D and Weston BW.
  TITLE     Expression of human chromosome 19p alpha(1,3)-fucosyltransferase
            genes in normal tissues. Alternative splicing, polyadenylation, and
            isoforms
  JOURNAL   J Biol Chem 270 (34), 20112-20122 (1995)
   PUBMED   7650030
REFERENCE   7  (bases 1 to 3326)
  AUTHORS   McCurley RS, Recinos A 3rd, Olsen AS, Gingrich JC, Szczepaniak D,
            Cameron HS, Krauss R and Weston BW.
  TITLE     Physical maps of human alpha (1,3)fucosyltransferase genes FUT3-FUT6
            on chromosomes 19p13.3 and 11q21
  JOURNAL   Genomics 26 (1), 142-146 (1995)
   PUBMED   7782074
REFERENCE   8  (bases 1 to 3326)
  AUTHORS   Reguigne-Arnould I, Couillin P, Mollicone R, Faure S, Fletcher A,
            Kelly RJ, Lowe JB and Oriol R.
  TITLE     Relative positions of two clusters of human
            alpha-L-fucosyltransferases in 19q (FUT1-FUT2) and 19p
            (FUT6-FUT3-FUT5) within the microsatellite genetic map of chromosome
            19
  JOURNAL   Cytogenet Cell Genet 71 (2), 158-162 (1995)
   PUBMED   7656588
REFERENCE   9  (bases 1 to 3326)
  AUTHORS   Weston BW, Smith PL, Kelly RJ and Lowe JB.
  TITLE     Molecular cloning of a fourth member of a human alpha
            (1,3)fucosyltransferase gene family. Multiple homologous sequences
            that determine expression of the Lewis x, sialyl Lewis x, and
            difucosyl sialyl Lewis x epitopes
  JOURNAL   J Biol Chem 267 (34), 24575-24584 (1992)
   PUBMED   1339443
  REMARK    Erratum:[J Biol Chem 1993 Aug 25;268(24):18398]
REFERENCE   10  (bases 1 to 3326)
  AUTHORS   Koszdin KL and Bowen BR.
  TITLE     The cloning and expression of a human alpha-1,3 fucosyltransferase
            capable of forming the E-selectin ligand
  JOURNAL   Biochem Biophys Res Commun 187 (1), 152-157 (1992)
   PUBMED   1520296
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2317998.1,
            SRR14038194.3442150.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2156266
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000318336.10/ ENSP00000313398.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC024592.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 17, 2020 this sequence version replaced NM_000150.3.
            Summary: The protein encoded by this gene is a Golgi stack membrane
            protein that is involved in the creation of sialyl-Lewis X, an
            E-selectin ligand. Mutations in this gene are a cause of
            fucosyltransferase-6 deficiency. Two transcript variants encoding
            the same protein have been found for this gene. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..3326
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..3326
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /note="fucosyltransferase 6"
                     /db_xref="GeneID:2528"
                     /db_xref="HGNC:HGNC:4017"
                     /db_xref="MIM:136836"
     misc_feature    1161..1163
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /note="upstream in-frame stop codon"
     CDS             1167..2246
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /EC_number="2.4.1.152"
                     /note="isoform 1 is encoded by transcript variant 1;
                     galactoside 3-L-fucosyltransferase; fucosyltransferase VI;
                     alpha-(1,3)-fucosyltransferase 6; fucosyltransferase 6
                     (alpha (1,3) fucosyltransferase);
                     4-galactosyl-N-acetylglucosaminide
                     3-alpha-L-fucosyltransferase FUT6"
                     /codon_start=1
                     /product="4-galactosyl-N-acetylglucosaminide
                     3-alpha-L-fucosyltransferase FUT6 isoform 1"
                     /protein_id="NP_000141.1"
                     /db_xref="CCDS:CCDS12152.1"
                     /db_xref="GeneID:2528"
                     /db_xref="HGNC:HGNC:4017"
                     /db_xref="MIM:136836"
                     /translation="MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYP
                     NGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRCSEMVPGTADCNITADRKVYPQADA
                     VIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRSDSD
                     IFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYG
                     RSHKPLPQGTMMETLSRYKFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYE
                     RFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFRWRETLRPRSFSWALAFCKAC
                     WKLQEESRYQTRGIAAWFT"
     misc_feature    1209..1268
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /note="propagated from UniProtKB/Swiss-Prot (P51993.1);
                     transmembrane region"
     misc_feature    1302..1304
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51993.1); glycosylation site"
     misc_feature    1383..1502
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /note="propagated from UniProtKB/Swiss-Prot (P51993.1);
                     Region: determines site-specific fucosylation.
                     /evidence=ECO:0000269|PubMed:17604274"
     misc_feature    1437..1439
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51993.1); glycosylation site"
     misc_feature    1623..1625
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51993.1); glycosylation site"
     misc_feature    1716..1718
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51993.1); glycosylation site"
     regulatory      3282..3287
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /note="hexamer: AAGAAA"
     polyA_site      3326
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /note="major polyA site"
ORIGIN
        1 attccaggaa gtttgcatag ctccctggac ttctgctttg cactgccctg caggagtggg
       61 tggggaaagg aagtggcttt gaggcacaca gaggggcttg ttgaggccac cggaggaagc
      121 ttctgccacc aatatgggac ctgtgcccag cctaccagaa gagagcatct gaaaacatgt
      181 atcgacatgg taacccctct gcttgaagcc tcacatggct ccctattgcc ttggtgctga
      241 acaccctatg gctgaccgtg gcccagcctc tgcaacagct ctgcctcctc tccagtggtg
      301 aagacccagc ctgctgagac tcctcctgca gttcctcaac atgcctgcat ttctgctgcc
      361 tcagggcctt tgcgaaggtt gttccttgta actggaatgc ccttccatcc cttttttatt
      421 caaaaggctg caattttaat tgaagaaagt tcccttccaa ggttcatgag ttgcctgact
      481 tgcccaccgg tttcctgcaa gatcccttgg cctggcactt agtgctcagg aaatatttgg
      541 tgatgggcca actgagtgag aaggtgggat ctggtgggaa ggaaagcgga aaggtagaaa
      601 ttctgctcac ttcctcattc ccacctccca aggaacccct ggtgtccctg tggaacccgc
      661 tttgggaacc ggtggttcag gtcagccttt tcactttgta ctcaaagcca catcgcattg
      721 aagccacagg tggggcaagg tcatgcatga cctgagtctc caaatccctt caccctgttt
      781 ggttctgcaa cggggattag gggagcccca cgatttgttt tcaaaggatg tccgggctcc
      841 aggacaggat gccctgggtc acctgatgac aggtgtggtg gttggaaagg gcctggtttc
      901 agctccgggt acacttcctc cttccttctg ctgcgtggtg tggcctcttc cacgtcctca
      961 gaatccagct gttactccgt ccgcggcctc tcagctctag ggccctctgc acactggccc
     1021 ccccagtgtc acgggcatcc agacgggatc cagtgcatcc tcttttagaa gaaaggcctg
     1081 tctccagatc cccgagtccc tctagcatct cccagaaggt gtcagacgca gcagtgtcca
     1141 gggagcggca gcagatactc tgacccatgg atcccctggg cccggccaag ccacagtggt
     1201 cgtggcgctg ctgtctgacc acgctgctgt ttcagctgct gatggctgtg tgtttcttct
     1261 cctatctgcg tgtgtctcaa gacgatccca ctgtgtaccc taatgggtcc cgcttcccag
     1321 acagcacagg gacccccgcc cactccatcc ccctgatcct gctgtggacg tggcctttta
     1381 acaaacccat agctctgccc cgctgctcag agatggtgcc tggcacggct gactgcaaca
     1441 tcactgccga ccgcaaggtg tatccacagg cagacgcggt catcgtgcac caccgagagg
     1501 tcatgtacaa ccccagtgcc cagctcccac gctccccgag gcggcagggg cagcgatgga
     1561 tctggttcag catggagtcc ccaagccact gctggcagct gaaagccatg gacggatact
     1621 tcaatctcac catgtcctac cgcagcgact ccgacatctt cacgccctac ggctggctgg
     1681 agccgtggtc cggccagcct gcccacccac cgctcaacct ctcggccaag accgagctgg
     1741 tggcctgggc agtgtccaac tgggggccaa actccgccag ggtgcgctac taccagagcc
     1801 tgcaggccca tctcaaggtg gacgtgtacg gacgctccca caagcccctg ccccagggaa
     1861 ccatgatgga gacgctgtcc cggtacaagt tctatctggc cttcgagaac tccttgcacc
     1921 ccgactacat caccgagaag ctgtggagga acgccctgga ggcctgggcc gtgcccgtgg
     1981 tgctgggccc cagcagaagc aactacgaga ggttcctgcc acccgacgcc ttcatccacg
     2041 tggacgactt ccagagcccc aaggacctgg cccggtacct gcaggagctg gacaaggacc
     2101 acgcccgcta cctgagctac tttcgctggc gggagacgct gcggcctcgc tccttcagct
     2161 gggcactcgc tttctgcaag gcctgctgga aactgcagga ggaatccagg taccagacac
     2221 gcggcatagc ggcttggttc acctgagagg ctggtgtggg gcctgggctg ccaggaacct
     2281 cattttcctg gggcctcacc tgagtggggg cctcatctac ctaaggactc gtttgcctga
     2341 agcttcacct gcctgaggac tcacctgcct gggacggtca cctgttgcag cttcacctgc
     2401 ctggggattc acctacctgg gtcctcactt tcctggggcc tcacctgctg gagtcttcgg
     2461 tggccaggta tgtcccttac ctgggatttc acatgctggc ttccaggagc gtcccctgcg
     2521 gaagcctggc ctgctgggga tgtctcctgg ggactttgcc tactggggac ctcggctgtt
     2581 ggggacttta cctgctggga cctgctccca gagaccttcc acactgaatc tcacctgcta
     2641 ggagcctcac ctgctgggga cctcaccctg gagggcactg ggccctggga actggcaccc
     2701 atggggcccc acccatgagt gatggttctg gctgatttgt ttgtgatgtt gttagccgcc
     2761 tgtgaggggt gcagagagat aatcaccgca ccgtttccag atgtaatact gcaaagaaaa
     2821 ccgatgatga ggccgggtgc ggtggctcac acctgtaatc ccagcacttt gggaggccga
     2881 ggcaggcgga tcacaaggtc aggagatcga gaccatcctg gccaatatgg tgaaacccgt
     2941 ctctactaaa aatacaaaaa tttgccgggc gtggtggtgc atgcctgtaa tcccagctac
     3001 ttgggaagct gaggcaggag aatcgcttga accagagagt cggaggttgc agtaagccga
     3061 gatcgcgcca ctgcactcca gcctggcgac agagcgagac tctgtctcaa aaaaaaaaaa
     3121 aaaaaaaaaa aaaattagct gggtgcggtg gccggtgcct gtaatcccag ctacccaggt
     3181 ggctgagaca caagaatcgc ttgaacccag gaggcagatg ttgtagggag ccatgatcgc
     3241 accactgcac tccaacctgg gcgacacagt gagactgtct caagaaaaaa aaaaaaaggg
     3301 gggagtgtcc ctttctgagt gtgcaa
//
LOCUS       NM_000151               4164 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens glucose-6-phosphatase catalytic subunit 1 (G6PC1),
            transcript variant 1, mRNA.
ACCESSION   NM_000151
VERSION     NM_000151.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4164)
  AUTHORS   Khandelwal R, Sharma AK, Biswa BB and Sharma Y.
  TITLE     Extracellular secretagogin is internalized into the cells through
            endocytosis
  JOURNAL   FEBS J 289 (11), 3183-3204 (2022)
   PUBMED   34967502
REFERENCE   2  (bases 1 to 4164)
  AUTHORS   Zhu K, Deng C, Du P, Liu T, Piao J, Piao Y, Yang M and Chen L.
  TITLE     G6PC indicated poor prognosis in cervical cancer and promoted
            cervical carcinogenesis in vitro and in vivo
  JOURNAL   Reprod Biol Endocrinol 20 (1), 50 (2022)
   PUBMED   35277194
  REMARK    GeneRIF: G6PC indicated poor prognosis in cervical cancer and
            promoted cervical carcinogenesis in vitro and in vivo. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 4164)
  AUTHORS   Arnaoutova I, Zhang L, Chen HD, Mansfield BC and Chou JY.
  TITLE     Correction of metabolic abnormalities in a mouse model of glycogen
            storage disease type Ia by CRISPR/Cas9-based gene editing
  JOURNAL   Mol Ther 29 (4), 1602-1610 (2021)
   PUBMED   33359667
  REMARK    GeneRIF: Correction of metabolic abnormalities in a mouse model of
            glycogen storage disease type Ia by CRISPR/Cas9-based gene editing.
REFERENCE   4  (bases 1 to 4164)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 4164)
  AUTHORS   Kim YM, Choi JH, Lee BH, Kim GH, Kim KM and Yoo HW.
  TITLE     Predominance of the c.648G > T G6PC gene mutation and late
            complications in Korean patients with glycogen storage disease type
            Ia
  JOURNAL   Orphanet J Rare Dis 15 (1), 45 (2020)
   PUBMED   32046761
  REMARK    GeneRIF: Predominance of the c.648G > T G6PC gene mutation and late
            complications in Korean patients with glycogen storage disease type
            Ia. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4164)
  AUTHORS   Bali,D.S., El-Gharbawy,A., Austin,S., Pendyal,S. and Kishnani,P.S.
  TITLE     Glycogen Storage Disease Type I
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301489
REFERENCE   7  (bases 1 to 4164)
  AUTHORS   Burchell A and Waddell ID.
  TITLE     Diagnosis of a novel glycogen storage disease: type 1aSP
  JOURNAL   J Inherit Metab Dis 13 (3), 247-249 (1990)
   PUBMED   2172641
REFERENCE   8  (bases 1 to 4164)
  AUTHORS   Hill A, Waddell ID, Hopwood D and Burchell A.
  TITLE     The microsomal glucose-6-phosphatase enzyme of human gall-bladder
  JOURNAL   J Pathol 158 (1), 53-56 (1989)
   PUBMED   2547044
REFERENCE   9  (bases 1 to 4164)
  AUTHORS   Narisawa,K., Igarashi,Y., Otomo,H. and Tada,K.
  TITLE     A new variant of glycogen storage disease type I probably due to a
            defect in the glucose-6-phosphate transport system
  JOURNAL   Biochem Biophys Res Commun 83 (4), 1360-1364 (1978)
   PUBMED   212064
REFERENCE   10  (bases 1 to 4164)
  AUTHORS   Barham,S.S., Berlin,J.D. and Brackeen,R.B.
  TITLE     The fine structural localization of testicular phosphatases in man:
            the control testis
  JOURNAL   Cell Tissue Res 166 (4), 497-510 (1976)
   PUBMED   175958
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U01120.1, SRR5189664.10415.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000253801.7/ ENSP00000253801.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U01120.1, AC016889.28 and
            AW614228.1.
            On May 17, 2019 this sequence version replaced NM_000151.3.
            Summary: Glucose-6-phosphatase (G6Pase) is a multi-subunit integral
            membrane protein of the endoplasmic reticulum that is composed of a
            catalytic subunit and transporters for G6P, inorganic phosphate,
            and glucose. This gene (G6PC) is one of the three
            glucose-6-phosphatase catalytic-subunit-encoding genes in human:
            G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the
            hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate
            and is a key enzyme in glucose homeostasis, functioning in
            gluconeogenesis and glycogenolysis. Mutations in this gene cause
            glycogen storage disease type I (GSD1). This disease, also known as
            von Gierke disease, is a metabolic disorder characterized by severe
            hypoglycemia associated with the accumulation of glycogen and fat
            in the liver and kidneys.[provided by RefSeq, Feb 2011].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4164
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..4164
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="glucose-6-phosphatase catalytic subunit 1"
                     /db_xref="GeneID:2538"
                     /db_xref="HGNC:HGNC:4056"
                     /db_xref="MIM:613742"
     misc_feature    58..60
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="upstream in-frame stop codon"
     misc_feature    73..75
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MR"
     CDS             79..1152
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /EC_number="3.1.3.9"
                     /note="isoform 1 is encoded by transcript variant 1;
                     G-6-Pase; G6Pase-alpha; glucose-6-phosphatase alpha"
                     /codon_start=1
                     /product="glucose-6-phosphatase catalytic subunit 1 isoform
                     1"
                     /protein_id="NP_000142.2"
                     /db_xref="CCDS:CCDS11446.1"
                     /db_xref="GeneID:2538"
                     /db_xref="HGNC:HGNC:4056"
                     /db_xref="MIM:613742"
                     /translation="MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYV
                     LFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILFGQRPYWWVLDTDYYSNTSVPLIKQ
                     FPVTCETGPGSPSGHAMGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFWAVQ
                     LNVCLSRIYLAAHFPHQVVAGVLSGIAVAETFSHIHSIYNASLKKYFLITFFLFSFAIG
                     FYLLLKGLGVDLLWTLEKAQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMYR
                     ESCKGKLSKWLPFRLSSIVASLVLLHVFDSLKPPSQVELVFYVLSFCKSAVVPLASVSV
                     IPYCLAQVLGQPHKKSL"
     misc_feature    163..225
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="propagated from UniProtKB/Swiss-Prot (P35575.2);
                     transmembrane region"
     misc_feature    259..321
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="propagated from UniProtKB/Swiss-Prot (P35575.2);
                     transmembrane region"
     misc_feature    364..366
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:9705299; propagated from
                     UniProtKB/Swiss-Prot (P35575.2); glycosylation site"
     misc_feature    430..492
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="propagated from UniProtKB/Swiss-Prot (P35575.2);
                     transmembrane region"
     misc_feature    520..582
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="propagated from UniProtKB/Swiss-Prot (P35575.2);
                     transmembrane region"
     misc_feature    616..684
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="propagated from UniProtKB/Swiss-Prot (P35575.2);
                     transmembrane region"
     misc_feature    706..768
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="propagated from UniProtKB/Swiss-Prot (P35575.2);
                     transmembrane region"
     misc_feature    841..903
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="propagated from UniProtKB/Swiss-Prot (P35575.2);
                     transmembrane region"
     misc_feature    952..1014
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="propagated from UniProtKB/Swiss-Prot (P35575.2);
                     transmembrane region"
     misc_feature    1039..1101
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="propagated from UniProtKB/Swiss-Prot (P35575.2);
                     transmembrane region"
     polyA_site      2900
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="major polyA site"
     regulatory      3030..3035
                     /regulatory_class="polyA_signal_sequence"
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="hexamer: ATTAAA"
     regulatory      3053..3058
                     /regulatory_class="polyA_signal_sequence"
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="hexamer: AATAAA"
     polyA_site      3054
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="major polyA site"
     polyA_site      3076
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
     regulatory      4133..4138
                     /regulatory_class="polyA_signal_sequence"
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
                     /note="hexamer: GATAAA"
     polyA_site      4164
                     /gene="G6PC1"
                     /gene_synonym="G6Pase; G6PC; G6PT; GSD1; GSD1a"
ORIGIN
        1 agcagagcaa tcaccaccaa gcctggaata actgcaaggg ctctgctgac atcttcctga
       61 ggtgccaagg aaatgaggat ggaggaagga atgaatgttc tccatgactt tgggatccag
      121 tcaacacatt acctccaggt gaattaccaa gactcccagg actggttcat cttggtgtcc
      181 gtgatcgcag acctcaggaa tgccttctac gtcctcttcc ccatctggtt ccatcttcag
      241 gaagctgtgg gcattaaact cctttgggta gctgtgattg gagactggct caacctcgtc
      301 tttaagtgga ttctctttgg acagcgtcca tactggtggg ttttggatac tgactactac
      361 agcaacactt ccgtgcccct gataaagcag ttccctgtaa cctgtgagac tggaccaggg
      421 agcccctctg gccatgccat gggcacagca ggtgtatact acgtgatggt cacatctact
      481 ctttccatct ttcagggaaa gataaagccg acctacagat ttcggtgctt gaatgtcatt
      541 ttgtggttgg gattctgggc tgtgcagctg aatgtctgtc tgtcacgaat ctaccttgct
      601 gctcattttc ctcatcaagt tgttgctgga gtcctgtcag gcattgctgt tgcagaaact
      661 ttcagccaca tccacagcat ctataatgcc agcctcaaga aatattttct cattaccttc
      721 ttcctgttca gcttcgccat cggattttat ctgctgctca agggactggg tgtagacctc
      781 ctgtggactc tggagaaagc ccagaggtgg tgcgagcagc cagaatgggt ccacattgac
      841 accacaccct ttgccagcct cctcaagaac ctgggcacgc tctttggcct ggggctggct
      901 ctcaactcca gcatgtacag ggagagctgc aaggggaaac tcagcaagtg gctcccattc
      961 cgcctcagct ctattgtagc ctccctcgtc ctcctgcacg tctttgactc cttgaaaccc
     1021 ccatcccaag tcgagctggt cttctacgtc ttgtccttct gcaagagtgc ggtagtgccc
     1081 ctggcatccg tcagtgtcat cccctactgc ctcgcccagg tcctgggcca gccgcacaag
     1141 aagtcgttgt aagagatgtg gagtcttcgg tgtttaaagt caacaaccat gccagggatt
     1201 gaggaggact actatttgaa gcaatgggca ctggtatttg gagcaagtga catgccatcc
     1261 attctgccgt cgtggaatta aatcacggat ggcagattgg agggtcgcct ggcttattcc
     1321 catgtgtgac tccagcctgc cctcagcaca gactctttca gatggaggtg ccatatcacg
     1381 tacaccatat gcaagtttcc cgccaggagg tcctcctctc tctacttgaa tactctcaca
     1441 agtagggagc tcactcccac tggaacagcc cattttatct ttgaatggtc ttctgccagc
     1501 ccattttgag gccagaggtg ctgtcagctc aggtggtcct cttttacaat cctaatcata
     1561 ttgggtaatg tttttgaaaa gctaatgaag ctattgagaa agacctgttg ctagaagttg
     1621 ggttgttctg gattttcccc tgaagactta cttattcttc cgtcacatat acaaaagcaa
     1681 gacttccagg tagggccagc tcacaagccc aggctggaga tcctaactga gaattttcta
     1741 cctgtgttca ttcttaccga gaaaaggaga aaggagctct gaatctgata ggaaaagaag
     1801 gctgcctaag gaggagtttt tagtatgtgg cgtatcatgc aagtgctatg ccaagccatg
     1861 tctaaatggc tttaattata tagtaatgca ctctcagtaa tgggggacca gcttaagtat
     1921 aattaataga tggttagtgg ggtaattctg cttctagtat tttttttact gtgcatacat
     1981 gttcatcgta tttccttgga tttctgaatg gctgcagtga cccagatatt gcactaggtc
     2041 aaaacattca ggtatagctg acatctcctc tatcacatta catcatcctc cttataagcc
     2101 cagctctgct ttttccagat tcttccactg gctccacatc caccccactg gatcttcaga
     2161 aggctagagg gcgactctgg tggtgctttt gtatgtttca attaggctct gaaatcttgg
     2221 gcaaaatgac aaggggaggg ccaggattcc tctctcaggt cactccagtg ttacttttaa
     2281 ttcctagagg gtaaatatga ctcctttctc tatcccaagc caaccaagag cacattctta
     2341 aaggaaaagt caacatcttc tctctttttt tttttttttg agacagggtc tcactatgtt
     2401 gcccaggctg ctcttgaatt cctgggctca agcagtcctc ccaccctacc acagcgtccc
     2461 gcgtagctgg gactacaggt gcaagccact atgtccagct agccaactcc tccttgcctg
     2521 cttttctttt tttttctttt tttgagacgg cgcacctatc acccaggctg gagtggagtg
     2581 gcacgatctt ggctcactgc aacctcttcc tcctggttca agcgattctc atgtctcagc
     2641 ctcctcagta gctaggacta ccggcgtgca ccaccatgcc aggctaattt ttatattttt
     2701 agaattttag aagagatggg atttcatcat gttggccagg ctggtctcga actcctgacc
     2761 tcaagtgatc cacctgcctt ggcctcccaa ggtgctagga ttacaggcat gagccaccgc
     2821 accgggccct ccttgcctgt ttttcaatct catctgatat gcagagtatt tctgccccac
     2881 ccacctaccc cccaaaaaaa gctgaagcct atttatttga aagtccttgt ttttgctact
     2941 aattatatag tataccatac attatcattc aaaacaacca tcctgctcat aacatctttg
     3001 aaaagaaaaa tatatatgtg cagtatttta ttaaagcaac attttattta agaataaagt
     3061 cttgttaatt actatatttt agatgcaatg tgatctgaag tttctaattc tggcccaact
     3121 aaatttctag ctctgtttcc ctaaacaaat aatttggttt ctctgtgcct gcattttccc
     3181 tttggagaag aaaagtgctc tctcttgagt tgaccgagag tcccattagg gatagggaga
     3241 cttaaatgca tccacagggg cacaggcaga gttgagcaca taaacggagg cccaaaatca
     3301 gcatagaacc agaaagattc agagttggcc aagaatgaac attggctacc agaccacaag
     3361 tcagcatgag ttgctctatg gcatcaaatt gcaacttgag agtagatggg cagggtcact
     3421 atcaaattaa gcaatcaggg cacacaagtt gcagtaacac aacaagacta ggccagctct
     3481 ggaatccagt aactcagtgt cagcaaggtt ttgggttata gttcaagaaa gtctaaacag
     3541 agccagtcac agcaccaagg aatgctcaag ggagctattg caggtttctc tgctaagaga
     3601 tttatttcat cctgggtgca gggttcgacc tccaaaggcc tcaaatcatc accgtatcaa
     3661 tggatttcct gagggtaagc tccgctattt cacacctgaa ctccggagtc tgtatattca
     3721 gggaagattg cattctccta ctggatttgg gctctcagag ggcgttgtgg gaaccaggcc
     3781 cctcacagaa tcaaatggtc ccaaccaggg agaaagaaaa tagtcttttt ttttttttta
     3841 atagagatgg gggtctcact atgctgccca ggctggtctt gaactcctgg gttcaagtga
     3901 tcctcctgcc tcagcctccc aaagtgctgg gattacagtg tgagccactg cgcttggcca
     3961 gaaatggttt tgatctgtct gaactgaacc ctactgctta ggcatagccc catccttgat
     4021 aatctatttg ctcccaagga ccaagtccaa gatccttaca agaaaggtct gccagaaagt
     4081 aaatactgcc cccactccct gaagtttatg aggttgataa gaaaacataa cagataaagt
     4141 ttattgagtg ctaactttat gcca
//
LOCUS       NM_000152               3751 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens alpha glucosidase (GAA), transcript variant 1, mRNA.
ACCESSION   NM_000152
VERSION     NM_000152.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3751)
  AUTHORS   Chan MY, Jalil JA, Yakob Y, Wahab SAA, Ali EZ, Khalid MKNM, Leong
            HY, Chew HB, Sivabalakrishnan JB and Ngu LH.
  TITLE     Genotype, phenotype and treatment outcomes of 17 Malaysian patients
            with infantile-onset Pompe disease and the identification of 3 novel
            GAA variants
  JOURNAL   Orphanet J Rare Dis 18 (1), 231 (2023)
   PUBMED   37542277
  REMARK    GeneRIF: Genotype, phenotype and treatment outcomes of 17 Malaysian
            patients with infantile-onset Pompe disease and the identification
            of 3 novel GAA variants. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3751)
  AUTHORS   Smith EC, Hopkins S, Case LE, Xu M, Walters C, Dearmey S, Han SO,
            Spears TG, Chichester JA, Bossen EH, Hornik CP, Cohen JL, Bali D,
            Kishnani PS and Koeberl DD.
  TITLE     Phase I study of liver depot gene therapy in late-onset Pompe
            disease
  JOURNAL   Mol Ther 31 (7), 1994-2004 (2023)
   PUBMED   36805083
  REMARK    GeneRIF: Phase I study of liver depot gene therapy in late-onset
            Pompe disease.
REFERENCE   3  (bases 1 to 3751)
  AUTHORS   Kan SH, Huang JY, Harb J, Rha A, Dalton ND, Christensen C, Chan Y,
            Davis-Turak J, Neumann J and Wang RY.
  TITLE     CRISPR-mediated generation and characterization of a Gaa homozygous
            c.1935C>A (p.D645E) Pompe disease knock-in mouse model
            recapitulating human infantile onset-Pompe disease
  JOURNAL   Sci Rep 12 (1), 21576 (2022)
   PUBMED   36517654
  REMARK    GeneRIF: CRISPR-mediated generation and characterization of a Gaa
            homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model
            recapitulating human infantile onset-Pompe disease. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 3751)
  AUTHORS   Lim JA, Li L and Raben N.
  TITLE     Pompe disease: from pathophysiology to therapy and back again
  JOURNAL   Front Aging Neurosci 6, 177 (2014)
   PUBMED   25183957
  REMARK    Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3751)
  AUTHORS   Moreland RJ, Jin X, Zhang XK, Decker RW, Albee KL, Lee KL, Cauthron
            RD, Brewer K, Edmunds T and Canfield WM.
  TITLE     Lysosomal acid alpha-glucosidase consists of four different peptides
            processed from a single chain precursor
  JOURNAL   J Biol Chem 280 (8), 6780-6791 (2005)
   PUBMED   15520017
  REMARK    GeneRIF: data show that the mature forms of GAA characterized by
            polypeptides of 76 or 70 kDa are in fact larger molecular mass
            multicomponent enzyme complexes; peptides released during
            proteolytic processing remained tightly associated with the major
            species
REFERENCE   6  (bases 1 to 3751)
  AUTHORS   Leslie,N. and Bailey,L.
  TITLE     Pompe Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301438
REFERENCE   7  (bases 1 to 3751)
  AUTHORS   Martiniuk F, Mehler M, Bodkin M, Tzall S, Hirschhorn K, Zhong N and
            Hirschhorn R.
  TITLE     Identification of a missense mutation in an adult-onset patient with
            glycogenosis type II expressing only one allele
  JOURNAL   DNA Cell Biol 10 (9), 681-687 (1991)
   PUBMED   1684505
REFERENCE   8  (bases 1 to 3751)
  AUTHORS   Zhong N, Martiniuk F, Tzall S and Hirschhorn R.
  TITLE     Identification of a missense mutation in one allele of a patient
            with Pompe disease, and use of endonuclease digestion of
            PCR-amplified RNA to demonstrate lack of mRNA expression from the
            second allele
  JOURNAL   Am J Hum Genet 49 (3), 635-645 (1991)
   PUBMED   1652892
REFERENCE   9  (bases 1 to 3751)
  AUTHORS   Hermans MM, Kroos MA, van Beeumen J, Oostra BA and Reuser AJ.
  TITLE     Human lysosomal alpha-glucosidase. Characterization of the catalytic
            site
  JOURNAL   J Biol Chem 266 (21), 13507-13512 (1991)
   PUBMED   1856189
REFERENCE   10  (bases 1 to 3751)
  AUTHORS   Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J,
            Reuser AJ and Oostra BA.
  TITLE     Primary structure and processing of lysosomal alpha-glucosidase;
            homology with the intestinal sucrase-isomaltase complex
  JOURNAL   EMBO J 7 (6), 1697-1704 (1988)
   PUBMED   3049072
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: Y00839.1, SRR1660809.207766.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000302262.8/ ENSP00000305692.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY101855.1, HY047261.1,
            HY015584.1, Y00839.1, BF206270.1, M34424.1, BQ711289.1, BC040431.1
            and BF344248.1.
            On Nov 22, 2018 this sequence version replaced NM_000152.4.
            Summary: This gene encodes lysosomal alpha-glucosidase, which is
            essential for the degradation of glycogen to glucose in lysosomes.
            The encoded preproprotein is proteolytically processed to generate
            multiple intermediate forms and the mature form of the enzyme.
            Defects in this gene are the cause of glycogen storage disease II,
            also known as Pompe's disease, which is an autosomal recessive
            disorder with a broad clinical spectrum. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jan
            2016].
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2, and 3 all encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3751
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..3751
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="alpha glucosidase"
                     /db_xref="GeneID:2548"
                     /db_xref="HGNC:HGNC:4065"
                     /db_xref="MIM:606800"
     misc_feature    316..318
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="upstream in-frame stop codon"
     CDS             343..3201
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /EC_number="3.2.1.20"
                     /note="lysosomal alpha-glucosidase; acid maltase;
                     aglucosidase alfa; glucosidase alpha, acid"
                     /codon_start=1
                     /product="lysosomal alpha-glucosidase preproprotein"
                     /protein_id="NP_000143.2"
                     /db_xref="CCDS:CCDS32760.1"
                     /db_xref="GeneID:2548"
                     /db_xref="HGNC:HGNC:4065"
                     /db_xref="MIM:606800"
                     /translation="MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGS
                     SPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCE
                     ARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKD
                     ILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIV
                     RRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNR
                     DLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVY
                     IFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLD
                     VQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPY
                     DEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWI
                     DMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYG
                     LTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFN
                     LLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQA
                     MRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLIT
                     PVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLD
                     TINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERG
                     AYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSP
                     DTKVLDICVSLLMGEQFLVSWC"
     sig_peptide     343..414
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    481..588
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="propagated from UniProtKB/Swiss-Prot (P10253.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     550..3198
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /product="Lysosomal alpha-glucosidase. /id=PRO_0000018566"
                     /note="propagated from UniProtKB/Swiss-Prot (P10253.4)"
     mat_peptide     709..3198
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /product="76 kDa lysosomal alpha-glucosidase.
                     /id=PRO_0000018567"
                     /note="propagated from UniProtKB/Swiss-Prot (P10253.4)"
     misc_feature    760..762
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:29061980, ECO:0000269|PubMed:8435067,
                     ECO:0000269|Ref.19, ECO:0007744|PDB:5KZW,
                     ECO:0007744|PDB:5NN3; propagated from UniProtKB/Swiss-Prot
                     (P10253.4); glycosylation site"
     mat_peptide     952..3198
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /product="70 kDa lysosomal alpha-glucosidase.
                     /id=PRO_0000018568"
                     /note="propagated from UniProtKB/Swiss-Prot (P10253.4)"
     misc_feature    1039..1041
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:29061980,
                     ECO:0000269|PubMed:8435067, ECO:0000269|Ref.19,
                     ECO:0007744|PDB:5KZW, ECO:0007744|PDB:5NN3; propagated from
                     UniProtKB/Swiss-Prot (P10253.4); glycosylation site"
     misc_feature    1510..1512
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:29061980, ECO:0000269|PubMed:8435067,
                     ECO:0000269|Ref.19, ECO:0007744|PDB:5KZW,
                     ECO:0007744|PDB:5NN3; propagated from UniProtKB/Swiss-Prot
                     (P10253.4); glycosylation site"
     misc_feature    1750..1752
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:29061980,
                     ECO:0000269|PubMed:8435067, ECO:0000269|Ref.19,
                     ECO:0007744|PDB:5KZW, ECO:0007744|PDB:5NN3; propagated from
                     UniProtKB/Swiss-Prot (P10253.4); glycosylation site"
     misc_feature    2296..2298
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:29061980,
                     ECO:0000269|PubMed:8435067, ECO:0000269|Ref.19,
                     ECO:0007744|PDB:5KZW, ECO:0007744|PDB:5NN3; propagated from
                     UniProtKB/Swiss-Prot (P10253.4); glycosylation site"
     misc_feature    2986..2988
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:29061980, ECO:0000269|PubMed:8435067,
                     ECO:0000269|Ref.19, ECO:0007744|PDB:5KZW,
                     ECO:0007744|PDB:5NN3; propagated from UniProtKB/Swiss-Prot
                     (P10253.4); glycosylation site"
     misc_feature    3115..3117
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:8435067; propagated from
                     UniProtKB/Swiss-Prot (P10253.4); glycosylation site"
     regulatory      3728..3733
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="hexamer: AATAAA"
     polyA_site      3751
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="major polyA site"
ORIGIN
        1 cgaccccgga gtctccgcgg gcggccaggg cgcgcgtgcg cggaggtgag ccgggccggg
       61 gctgcggggc ttccctgagc gcgggccggg tcggtggggc ggtcggctgc ccgcgcggcc
      121 tctcagttgg gaaagctgag gttgtcgccg gggccgcggg tggaggtcgg ggatgaggca
      181 gcaggtagga cagtgacctc ggtgacgcga aggaccccgg ccacctctag gttctcctcg
      241 tccgcccgtt gttcagcgag ggaggctctg cgcgtgccgc agctgacggg gaaactgagg
      301 cacggagcgg gcctgtagga gctgtccagg ccatctccaa ccatgggagt gaggcacccg
      361 ccctgctccc accggctcct ggccgtctgc gccctcgtgt ccttggcaac cgctgcactc
      421 ctggggcaca tcctactcca tgatttcctg ctggttcccc gagagctgag tggctcctcc
      481 ccagtcctgg aggagactca cccagctcac cagcagggag ccagcagacc agggccccgg
      541 gatgcccagg cacaccccgg ccgtcccaga gcagtgccca cacagtgcga cgtccccccc
      601 aacagccgct tcgattgcgc ccctgacaag gccatcaccc aggaacagtg cgaggcccgc
      661 ggctgttgct acatccctgc aaagcagggg ctgcagggag cccagatggg gcagccctgg
      721 tgcttcttcc cacccagcta ccccagctac aagctggaga acctgagctc ctctgaaatg
      781 ggctacacgg ccaccctgac ccgtaccacc cccaccttct tccccaagga catcctgacc
      841 ctgcggctgg acgtgatgat ggagactgag aaccgcctcc acttcacgat caaagatcca
      901 gctaacaggc gctacgaggt gcccttggag accccgcatg tccacagccg ggcaccgtcc
      961 ccactctaca gcgtggagtt ctccgaggag cccttcgggg tgatcgtgcg ccggcagctg
     1021 gacggccgcg tgctgctgaa cacgacggtg gcgcccctgt tctttgcgga ccagttcctt
     1081 cagctgtcca cctcgctgcc ctcgcagtat atcacaggcc tcgccgagca cctcagtccc
     1141 ctgatgctca gcaccagctg gaccaggatc accctgtgga accgggacct tgcgcccacg
     1201 cccggtgcga acctctacgg gtctcaccct ttctacctgg cgctggagga cggcgggtcg
     1261 gcacacgggg tgttcctgct aaacagcaat gccatggatg tggtcctgca gccgagccct
     1321 gcccttagct ggaggtcgac aggtgggatc ctggatgtct acatcttcct gggcccagag
     1381 cccaagagcg tggtgcagca gtacctggac gttgtgggat acccgttcat gccgccatac
     1441 tggggcctgg gcttccacct gtgccgctgg ggctactcct ccaccgctat cacccgccag
     1501 gtggtggaga acatgaccag ggcccacttc cccctggacg tccagtggaa cgacctggac
     1561 tacatggact cccggaggga cttcacgttc aacaaggatg gcttccggga cttcccggcc
     1621 atggtgcagg agctgcacca gggcggccgg cgctacatga tgatcgtgga tcctgccatc
     1681 agcagctcgg gccctgccgg gagctacagg ccctacgacg agggtctgcg gaggggggtt
     1741 ttcatcacca acgagaccgg ccagccgctg attgggaagg tatggcccgg gtccactgcc
     1801 ttccccgact tcaccaaccc cacagccctg gcctggtggg aggacatggt ggctgagttc
     1861 catgaccagg tgcccttcga cggcatgtgg attgacatga acgagccttc caacttcatc
     1921 aggggctctg aggacggctg ccccaacaat gagctggaga acccacccta cgtgcctggg
     1981 gtggttgggg ggaccctcca ggcggccacc atctgtgcct ccagccacca gtttctctcc
     2041 acacactaca acctgcacaa cctctacggc ctgaccgaag ccatcgcctc ccacagggcg
     2101 ctggtgaagg ctcgggggac acgcccattt gtgatctccc gctcgacctt tgctggccac
     2161 ggccgatacg ccggccactg gacgggggac gtgtggagct cctgggagca gctcgcctcc
     2221 tccgtgccag aaatcctgca gtttaacctg ctgggggtgc ctctggtcgg ggccgacgtc
     2281 tgcggcttcc tgggcaacac ctcagaggag ctgtgtgtgc gctggaccca gctgggggcc
     2341 ttctacccct tcatgcggaa ccacaacagc ctgctcagtc tgccccagga gccgtacagc
     2401 ttcagcgagc cggcccagca ggccatgagg aaggccctca ccctgcgcta cgcactcctc
     2461 ccccacctct acacactgtt ccaccaggcc cacgtcgcgg gggagaccgt ggcccggccc
     2521 ctcttcctgg agttccccaa ggactctagc acctggactg tggaccacca gctcctgtgg
     2581 ggggaggccc tgctcatcac cccagtgctc caggccggga aggccgaagt gactggctac
     2641 ttccccttgg gcacatggta cgacctgcag acggtgccag tagaggccct tggcagcctc
     2701 ccacccccac ctgcagctcc ccgtgagcca gccatccaca gcgaggggca gtgggtgacg
     2761 ctgccggccc ccctggacac catcaacgtc cacctccggg ctgggtacat catccccctg
     2821 cagggccctg gcctcacaac cacagagtcc cgccagcagc ccatggccct ggctgtggcc
     2881 ctgaccaagg gtggggaggc ccgaggggag ctgttctggg acgatggaga gagcctggaa
     2941 gtgctggagc gaggggccta cacacaggtc atcttcctgg ccaggaataa cacgatcgtg
     3001 aatgagctgg tacgtgtgac cagtgaggga gctggcctgc agctgcagaa ggtgactgtc
     3061 ctgggcgtgg ccacggcgcc ccagcaggtc ctctccaacg gtgtccctgt ctccaacttc
     3121 acctacagcc ccgacaccaa ggtcctggac atctgtgtct cgctgttgat gggagagcag
     3181 tttctcgtca gctggtgtta gccgggcgga gtgtgttagt ctctccagag ggaggctggt
     3241 tccccaggga agcagagcct gtgtgcgggc agcagctgtg tgcgggcctg ggggttgcat
     3301 gtgtcacctg gagctgggca ctaaccattc caagccgccg catcgcttgt ttccacctcc
     3361 tgggccgggg ctctggcccc caacgtgtct aggagagctt tctccctaga tcgcactgtg
     3421 ggccggggcc ctggagggct gctctgtgtt aataagattg taaggtttgc cctcctcacc
     3481 tgttgccggc atgcgggtag tattagccac ccccctccat ctgttcccag caccggagaa
     3541 gggggtgctc aggtggaggt gtggggtatg cacctgagct cctgcttcgc gcctgctgct
     3601 ctgccccaac gcgaccgctg cccggctgcc cagagggctg gatgcctgcc ggtccccgag
     3661 caagcctggg aactcaggaa aattcacagg acttgggaga ttctaaatct taagtgcaat
     3721 tatttttaat aaaaggggca tttggaatca g
//
LOCUS       NM_000153               3794 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens galactosylceramidase (GALC), transcript variant 1,
            mRNA.
ACCESSION   NM_000153
VERSION     NM_000153.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3794)
  AUTHORS   Jia W, Luo Y, Zhang T, Yang Y and Zhang X.
  TITLE     A novel mutation in the GALC gene causes Krabbe disease accompanied
            with extensive Mongolian spots in a consanguineous family
  JOURNAL   Neurol Sci 44 (7), 2605-2608 (2023)
   PUBMED   36920572
  REMARK    GeneRIF: A novel mutation in the GALC gene causes Krabbe disease
            accompanied with extensive Mongolian spots in a consanguineous
            family.
REFERENCE   2  (bases 1 to 3794)
  AUTHORS   Senkevich K, Zorca CE, Dworkind A, Rudakou U, Somerville E, Yu E,
            Ermolaev A, Nikanorova D, Ahmad J, Ruskey JA, Asayesh F, Spiegelman
            D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupre N, Greenbaum L,
            Hassin-Baer S, Grenn FP, Chiang MSR, Sardi SP, Vanderperre B,
            Blauwendraat C, Trempe JF, Fon EA, Durcan TM, Alcalay RN and Gan-Or
            Z.
  TITLE     GALC variants affect galactosylceramidase enzymatic activity and
            risk of Parkinson's disease
  JOURNAL   Brain 146 (5), 1859-1872 (2023)
   PUBMED   36370000
  REMARK    GeneRIF: GALC variants affect galactosylceramidase enzymatic
            activity and risk of Parkinson's disease.
REFERENCE   3  (bases 1 to 3794)
  AUTHORS   Iacono D, Koga S, Peng H, Manavalan A, Daiker J, Castanedes-Casey M,
            Martin NB, Herdt AR, Gelb MH, Dickson DW and Lee CW.
  TITLE     Galactosylceramidase deficiency and pathological abnormalities in
            cerebral white matter of Krabbe disease
  JOURNAL   Neurobiol Dis 174, 105862 (2022)
   PUBMED   36113749
  REMARK    GeneRIF: Galactosylceramidase deficiency and pathological
            abnormalities in cerebral white matter of Krabbe disease.
REFERENCE   4  (bases 1 to 3794)
  AUTHORS   Kubo H, Murayama Y, Ogawa S, Matsumoto T, Yubakami M, Ohashi T,
            Kubota T, Okamoto K, Kamiya M, Urano Y and Otsuji E.
  TITLE     beta-Galactosidase is a target enzyme for detecting peritoneal
            metastasis of gastric cancer
  JOURNAL   Sci Rep 11 (1), 10664 (2021)
   PUBMED   34021168
  REMARK    GeneRIF: beta-Galactosidase is a target enzyme for detecting
            peritoneal metastasis of gastric cancer. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 3794)
  AUTHORS   Luzi P, Rafi MA and Wenger DA.
  TITLE     Structure and organization of the human galactocerebrosidase (GALC)
            gene
  JOURNAL   Genomics 26 (2), 407-409 (1995)
   PUBMED   7601472
REFERENCE   6  (bases 1 to 3794)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24501781
REFERENCE   7  (bases 1 to 3794)
  AUTHORS   Orsini,J.J., Escolar,M.L., Wasserstein,M.P. and Caggana,M.
  TITLE     Krabbe Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301416
REFERENCE   8  (bases 1 to 3794)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   9  (bases 1 to 3794)
  AUTHORS   Kodama,S., Igisu,H., Siegel,D.A. and Suzuki,K.
  TITLE     Glycosylceramide synthesis in the developing spinal cord and kidney
            of the twitcher mouse, an enzymatically authentic model of human
            Krabbe disease
  JOURNAL   J Neurochem 39 (5), 1314-1318 (1982)
   PUBMED   6811701
REFERENCE   10  (bases 1 to 3794)
  AUTHORS   Duchen,L.W., Eicher,E.M., Jacobs,J.M., Scaravilli,F. and Teixeira,F.
  TITLE     Hereditary leucodystrophy in the mouse: the new mutant twitcher
  JOURNAL   Brain 103 (3), 695-710 (1980)
   PUBMED   7417782
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HM005711.1, HM005712.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000261304.7/ ENSP00000261304.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157955.5 and AL136501.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000153.3.
            Summary: This gene encodes a lysosomal protein which hydrolyzes the
            galactose ester bonds of galactosylceramide, galactosylsphingosine,
            lactosylceramide, and monogalactosyldiglyceride. Mutations in this
            gene have been associated with Krabbe disease, also known as
            globoid cell leukodystrophy. Alternate transcriptional splice
            variants, encoding different isoforms, have been characterized.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3794
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q31.3"
     gene            1..3794
                     /gene="GALC"
                     /note="galactosylceramidase"
                     /db_xref="GeneID:2581"
                     /db_xref="HGNC:HGNC:4115"
                     /db_xref="MIM:606890"
     CDS             19..2076
                     /gene="GALC"
                     /EC_number="3.2.1.46"
                     /note="isoform a precursor is encoded by transcript variant
                     1; galactocerebrosidase; GALCERase; galactosylceramide
                     beta-galactosidase; galactocerebroside beta-galactosidase;
                     galactosylceraminidase; testis tissue sperm-binding protein
                     Li 88E; testis tissue sperm-binding protein Li 89A"
                     /codon_start=1
                     /product="galactocerebrosidase isoform a precursor"
                     /protein_id="NP_000144.2"
                     /db_xref="CCDS:CCDS9878.2"
                     /db_xref="GeneID:2581"
                     /db_xref="HGNC:HGNC:4115"
                     /db_xref="MIM:606890"
                     /translation="MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVL
                     DDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGG
                     DGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDW
                     PYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVK
                     IIASDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNS
                     DMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESP
                     VWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFL
                     PYFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSL
                     HEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYF
                     TNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGV
                     FIAGRVNKGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLT
                     IKGHFTSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR"
     sig_peptide     19..144
                     /gene="GALC"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     145..2073
                     /gene="GALC"
                     /product="Galactocerebrosidase. /id=PRO_0000012230"
                     /note="propagated from UniProtKB/Swiss-Prot (P54803.3)"
     misc_feature    445..447
                     /gene="GALC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P54803.3); glycosylation site"
     misc_feature    1153..1155
                     /gene="GALC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P54803.3); glycosylation site"
     misc_feature    1225..1227
                     /gene="GALC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P54803.3); glycosylation site"
     misc_feature    1684..1686
                     /gene="GALC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P54803.3); glycosylation site"
     misc_feature    1693..1695
                     /gene="GALC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P54803.3); glycosylation site"
     misc_feature    1822..1824
                     /gene="GALC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P54803.3); glycosylation site"
     regulatory      3772..3777
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALC"
                     /note="hexamer: ATTAAA"
     polyA_site      3794
                     /gene="GALC"
                     /note="major polyA site"
ORIGIN
        1 agtcatgtga cccacacaat ggctgagtgg ctactctcgg cttcctggca acgccgagcg
       61 aaagctatga ctgcggccgc gggttcggcg ggccgcgccg cggtgccctt gctgctgtgt
      121 gcgctgctgg cgcccggcgg cgcgtacgtg ctcgacgact ccgacgggct gggccgggag
      181 ttcgacggca tcggcgcggt cagcggcggc ggggcaacct cccgacttct agtaaattac
      241 ccagagccct atcgttctca gatattggat tatctcttta agccgaattt tggtgcctct
      301 ttgcatattt taaaagtgga aataggtggt gatgggcaga caacagacgg cactgagccc
      361 tcccacatgc attatgcact agatgagaat tatttccgag gatacgagtg gtggttgatg
      421 aaagaagcta agaagaggaa tcccaatatt acactcattg ggttgccatg gtcattccct
      481 ggatggctgg gaaaaggttt cgactggcct tatgtcaatc ttcagctgac tgcctattat
      541 gtcgtgacct ggattgtggg cgccaagcgt taccatgatt tggacattga ttatattgga
      601 atttggaatg agaggtcata taatgccaat tatattaaga tattaagaaa aatgctgaat
      661 tatcaaggtc tccagcgagt gaaaatcata gcaagtgata atctctggga gtccatctct
      721 gcatccatgc tccttgatgc cgaactcttc aaggtggttg atgttatagg ggctcattat
      781 cctggaaccc attcagcaaa agatgcaaag ttgactggga agaagctttg gtcttctgaa
      841 gactttagca ctttaaatag tgacatgggt gcaggctgct ggggtcgcat tttaaatcag
      901 aattatatca atggctatat gacttccaca atcgcatgga atttagtggc tagttactat
      961 gaacagttgc cttatgggag atgcgggttg atgacggccc aggagccatg gagtgggcac
     1021 tacgtggtag aatctcctgt ctgggtatca gctcatacca ctcagtttac tcaacctggc
     1081 tggtattacc tgaagacagt tggccattta gagaaaggag gaagctacgt agctctgact
     1141 gatggcttag ggaacctcac catcatcatt gaaaccatga gtcataaaca ttctaagtgc
     1201 atacggccat ttcttcctta tttcaatgtg tcacaacaat ttgccacctt tgttcttaag
     1261 ggatctttta gtgaaatacc agagctacag gtatggtata ccaaacttgg aaaaacatcc
     1321 gaaagatttc tttttaagca gctggattct ctatggctcc ttgacagcga tggcagtttc
     1381 acactgagcc tgcatgaaga tgagctgttc acactcacca ctctcaccac tggtcgcaaa
     1441 ggcagctacc cgcttcctcc aaaatcccag cccttcccaa gtacctataa ggatgatttc
     1501 aatgttgatt acccattttt tagtgaagct ccaaactttg ctgatcaaac tggtgtattt
     1561 gaatatttta caaatattga agaccctggc gagcatcact tcacgctacg ccaagttctc
     1621 aaccagagac ccattacatg ggctgccgat gcatccaaca caatcagtat tataggagac
     1681 tacaactgga ccaatctgac tataaagtgt gatgtataca tagagacccc tgacacagga
     1741 ggtgtgttca ttgcaggaag agtaaataaa ggtggtattt tgattagaag tgccagagga
     1801 attttcttct ggatttttgc aaatggatct tacagggtta caggtgattt agctggatgg
     1861 attatatatg ctttaggacg tgttgaagtt acagcaaaaa aatggtatac actcacgtta
     1921 actattaagg gtcatttcac ctctggcatg ctgaatgaca agtctctgtg gacagacatc
     1981 cctgtgaatt ttccaaagaa tggctgggct gcaattggaa ctcactcctt tgaatttgca
     2041 cagtttgaca actttcttgt ggaagccaca cgctaatact taacagggca tcatagaata
     2101 ctctggattt tcttcccttc tttttggttt tggttcagag ccaattcttg tttcattgga
     2161 acagtatatg aggcttttga gactaaaaat aatgaagagt aaaaggggag agaaatttat
     2221 ttttaattta ccctgtggaa gattttatta gaattaattc caaggggaaa actggtgaat
     2281 ctttaacatt acctggtgtg ttccctaaca ttcaaactgt gcattggcca tacccttagg
     2341 agtggtttga gtagtacaga cctcgaagcc ttgctgctaa cactgaggta gctctcttca
     2401 tcttatttgc aagcggtcct gtagatggca gtaacttgat catcactgag atgtatttat
     2461 gcatgctgac cgtgtgtcca agtgagccag tgtcttcatc acaagatgat gctgccataa
     2521 tagaaagctg aagaacacta gaagtagctt tttgaaaacc acttcaacct gttatgcttt
     2581 atgctctaaa aagtattttt ttattttcct ttttaagatg atacttttga aatgcaggat
     2641 atgatgagtg ggatgatttt aaaaatgcct ctttaataaa ctacctctaa cactatttct
     2701 gcagtaatag atattagcag attaattggg ttatttgcat tatttaattt ttttgattcc
     2761 aagttttggt cttgtaacca ctataactct ctgtgaacgt ttttccaggt ggctggaaga
     2821 aggaagaaaa cctgatatag ccaatgctgt tgtagtcgtt tcctcagcct catctcactg
     2881 tgctgtggtc tgtcctcaca tgtgcactgg taacagactc acacagctga tgaatgcttt
     2941 tctctcctta tgtgtggaag gaggggagca cttagacatt tgctaactcc cagaattgga
     3001 tcatctccta agatgtactt actttttaaa gtccaaatat gtttatattt aaatatacgt
     3061 gagcgtgttc atcatgttgt atgatttata ctaagcatta atgtggctct atgtagcaaa
     3121 tcagttattc atgtaggtaa agtaaatcta gaattattta taagaattac tcattgaact
     3181 aattctacta tttaggaatt tgtaagagtc taacataggc ttagctacag tgaagttttg
     3241 cattgctttt gaagacaaga agataagtgc tagaataaat aagattacag agaaaatttt
     3301 ttgttaaaac caagtgattt ccagctgatg tatctaatat tttttaaaac gaacattata
     3361 gaggtgtaat ttatttacaa taaaatgttc ctactttaaa tatacaattc agtgagtttt
     3421 gataaattga tatacccatg taaccaacac tccagtcaag cttcagaata tttccatcac
     3481 cccagaaggt tctcttgtat acctgctcag tcagttcctt tcactcccaa ttgttggcag
     3541 ccattgatag gaattctatc actataggtt agttttcttt gttccagaac atcatgaaag
     3601 cggcgtcatg tactgtgtat tcttatgaat ggtttctttc catcagcata atgatttgag
     3661 atttgtccat gttgtgtgat tcagtggttt gttccttctt atttctgaag agttttccat
     3721 tgtatgaata taccacaatt tgtttcctcc ccaccagttt ctgatactac aattaaaact
     3781 gtctacattt acaa
//
LOCUS       NM_000154               1397 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens galactokinase 1 (GALK1), transcript variant 1, mRNA.
ACCESSION   NM_000154
VERSION     NM_000154.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1397)
  AUTHORS   Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Moslinger D, Couce ML,
            Empain A, Ficicioglu C, Julia Palacios N, De Los Santos De Pelegrin
            MM, Rivera IA, Scholl-Burgi S, Bosch AM, Cassiman D, Demirbas D,
            Gautschi M, Knerr I, Labrune P, Skouma A, Verloo P, Wortmann SB,
            Treacy EP, Timson DJ and Berry GT.
  TITLE     Galactokinase deficiency: lessons from the GalNet registry
  JOURNAL   Genet Med 23 (1), 202-210 (2021)
   PUBMED   32807972
  REMARK    GeneRIF: Galactokinase deficiency: lessons from the GalNet registry.
REFERENCE   2  (bases 1 to 1397)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1397)
  AUTHORS   McAuley M, Huang M and Timson DJ.
  TITLE     Modulation of the mobility of a key region in human galactokinase:
            Impacts on catalysis and stability
  JOURNAL   Bioorg Chem 81, 649-657 (2018)
   PUBMED   30253338
  REMARK    GeneRIF: Focussing on four residues (Leu-231, Gln-242, Glu-244 and
            Glu-245) this study conducted molecular dynamics simulations to
            explore the effects of changing these residues to glycine or serine.
            The four serine variants were expressed as recombinant proteins. All
            had altered steady state enzyme kinetic parameters with
            alpha-d-galactose as a substrate.
REFERENCE   4  (bases 1 to 1397)
  AUTHORS   P S, Ebrahimi EA, Ghazala SA, D TK, R S, Priya Doss C G and Zayed H.
  TITLE     Structural analysis of missense mutations in galactokinase 1 (GALK1)
            leading to galactosemia type-2
  JOURNAL   J Cell Biochem 119 (9), 7585-7598 (2018)
   PUBMED   29893426
  REMARK    GeneRIF: Molecular docking analysis revealed a decrease in
            interaction between the protein and ATP in all the 3 mutations
            (P28T, A198V, and L139P), and molecular dynamic simulations of 50 ns
            showed a loss of stability and compactness in the mutant proteins.
            Also P28T and A198V were predicted to alter the structure and
            function of GALK protein when compared to the mutant L139P.
REFERENCE   5  (bases 1 to 1397)
  AUTHORS   McAuley M, Mesa-Torres N, McFall A, Morris S, Huang M, Pey AL and
            Timson DJ.
  TITLE     Improving the Activity and Stability of Human Galactokinase for
            Therapeutic and Biotechnological Applications
  JOURNAL   Chembiochem 19 (10), 1088-1095 (2018)
   PUBMED   29505688
  REMARK    GeneRIF: Some of the single consensus variants (M60V, D268E, A334S
            and G373S) increased the catalytic turnover of the enzyme, but none
            resulted in improved stability. When all six changes were introduced
            into the protein (M60V/M180V/D268E/A334S/R366Q/G373S), thermal
            stability was increased.
REFERENCE   6  (bases 1 to 1397)
  AUTHORS   Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D,
            Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva
            B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L and
            Gitzelmann R.
  TITLE     A founder mutation in the GK1 gene is responsible for galactokinase
            deficiency in Roma (Gypsies)
  JOURNAL   Am J Hum Genet 65 (5), 1299-1307 (1999)
   PUBMED   10521295
REFERENCE   7  (bases 1 to 1397)
  AUTHORS   Bergsma,D.J., Ai,Y., Skach,W.R., Nesburn,K., Anoia,E., Van Horn,S.
            and Stambolian,D.
  TITLE     Fine structure of the human galactokinase GALK1 gene
  JOURNAL   Genome Res 6 (10), 980-985 (1996)
   PUBMED   8908517
REFERENCE   8  (bases 1 to 1397)
  AUTHORS   Ai Y, Basu M, Bergsma DJ and Stambolian D.
  TITLE     Comparison of the enzymatic activities of human galactokinase GALK1
            and a related human galactokinase protein GK2
  JOURNAL   Biochem Biophys Res Commun 212 (2), 687-691 (1995)
   PUBMED   7542884
REFERENCE   9  (bases 1 to 1397)
  AUTHORS   Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M and
            Bergsma DJ.
  TITLE     Cloning of the galactokinase cDNA and identification of mutations in
            two families with cataracts
  JOURNAL   Nat Genet 10 (3), 307-312 (1995)
   PUBMED   7670469
REFERENCE   10  (bases 1 to 1397)
  AUTHORS   Shin-Buehring,Y.S., Stuempfig,L., Pouget,E., Rahm,P. and Schaub,J.
  TITLE     Characterization of galactose-1-phosphate uridyl-transferase and
            galactokinase in human organs from the fetus and adult
  JOURNAL   Clin Chim Acta 112 (3), 257-265 (1981)
   PUBMED   6263522
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.228710.1,
            DRR138519.405707.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000588479.6/ ENSP00000465930.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087749.12.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000154.1.
            Summary: Galactokinase is a major enzyme for the metabolism of
            galactose and its deficiency causes congenital cataracts during
            infancy and presenile cataracts in the adult population. [provided
            by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the shorter
            transcript. Both variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1397
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..1397
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /note="galactokinase 1"
                     /db_xref="GeneID:2584"
                     /db_xref="HGNC:HGNC:4118"
                     /db_xref="MIM:604313"
     CDS             57..1235
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /EC_number="2.7.1.6"
                     /note="galactose kinase; epididymis secretory protein Li
                     19"
                     /codon_start=1
                     /product="galactokinase"
                     /protein_id="NP_000145.1"
                     /db_xref="CCDS:CCDS11728.1"
                     /db_xref="GeneID:2584"
                     /db_xref="HGNC:HGNC:4118"
                     /db_xref="MIM:604313"
                     /translation="MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHT
                     DYNQGLVLPMALELMTVLVGSPRKDGLVSLLTTSEGADEPQRLQFPLPTAQRSLEPGTP
                     RWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDSGTI
                     AARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLI
                     TNSNVRHSLASSEYPVRRRQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHV
                     VGEIRRTAQAAAALRRGDYRAFGRLMVESHRSLRDDYEVSCPELDQLVEAALAVPGVYG
                     SRMTGGGFGGCTVTLLEASAAPHAMRHIQEHYGGTATFYLSQAADGAKVLCL"
     misc_feature    165..167
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /note="Transition state stabilizer.
                     /evidence=ECO:0000250|UniProtKB:Q9HHB6; propagated from
                     UniProtKB/Swiss-Prot (P51570.1); other site"
     misc_feature    744..746
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P51570.1); phosphorylation site"
     regulatory      1329..1334
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /note="hexamer: AATAAA"
     polyA_site      1347
                     /gene="GALK1"
                     /gene_synonym="GALK; GK1; HEL-S-19"
                     /note="major polyA site"
ORIGIN
        1 atcccgcgcc gacggggctg tgccggagca gctgtgcaga gctgcaggcg cgcgtcatgg
       61 ctgctttgag acagccccag gtcgcggagc tgctggccga ggcccggcga gccttccggg
      121 aggagttcgg ggccgagccc gagctggccg tgtcagcgcc gggccgcgtc aacctcatcg
      181 gggaacacac ggactacaac cagggcctgg tgctgcctat ggctctggag ctcatgacgg
      241 tgctggtggg cagcccccgc aaggatgggc tggtgtctct cctcaccacc tctgagggtg
      301 ccgatgagcc ccagcggctg cagtttccac tgcccacagc ccagcgctcg ctggagcctg
      361 ggactcctcg gtgggccaac tatgtcaagg gagtgattca gtactaccca gctgcccccc
      421 tccctggctt cagtgcagtg gtggtcagct cagtgcccct ggggggtggc ctgtccagct
      481 cagcatcctt ggaagtggcc acgtacacct tcctccagca gctctgtcca gactcgggca
      541 caatagctgc ccgcgcccag gtgtgtcagc aggccgagca cagcttcgca gggatgccct
      601 gtggcatcat ggaccagttc atctcactta tgggacagaa aggccacgcg ctgctcattg
      661 actgcaggtc cttggagacc agcctggtgc cactctcgga ccccaagctg gccgtgctca
      721 tcaccaactc taatgtccgc cactccctgg cctccagcga gtaccctgtg cggcggcgcc
      781 aatgtgaaga agtggcccgg gcgctgggca aggaaagcct ccgggaggta caactggaag
      841 agctagaggc tgccagggac ctggtgagca aagagggctt ccggcgggcc cggcacgtgg
      901 tgggggagat tcggcgcacg gcccaggcag cggccgccct gagacgtggc gactacagag
      961 cctttggccg cctcatggtg gagagccacc gctcactcag agacgactat gaggtgagct
     1021 gcccagagct ggaccagctg gtggaggctg cgcttgctgt gcctggggtt tatggcagcc
     1081 gcatgacggg cggtggcttc ggtggctgca cggtgacact gctggaggcc tccgctgctc
     1141 cccacgccat gcggcacatc caggagcact acggcgggac tgccaccttc tacctctctc
     1201 aagcagccga tggagccaag gtgctgtgct tgtgaggcac ccccaggaca gcacacggtg
     1261 agggtgcggg gcctgcaggc cagtcccacg gctctgtgcc cggtgccatc ttccatatcc
     1321 gggtgctcaa taaacttgtg cctccaatgt ggtacctgcc tcctctagag gtgggtgtat
     1381 gcttgggtgt cagagaa
//
LOCUS       NM_000155               1756 bp    mRNA    linear   PRI 02-MAY-2023
DEFINITION  Homo sapiens galactose-1-phosphate uridylyltransferase (GALT),
            transcript variant 1, mRNA.
ACCESSION   NM_000155
VERSION     NM_000155.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1756)
  AUTHORS   Stettner NM, Cutler DJ and Fridovich-Keil JL.
  TITLE     Racial and ethnic diversity of classic and clinical variant
            galactosemia in the United States
  JOURNAL   Mol Genet Metab 138 (4), 107542 (2023)
   PUBMED   36848716
  REMARK    GeneRIF: Racial and ethnic diversity of classic and clinical variant
            galactosemia in the United States.
REFERENCE   2  (bases 1 to 1756)
  AUTHORS   Katler QS, Stepien KM, Paull N, Patel S, Adams M, Balci MC, Berry
            GT, Bosch AM, DeLaO A, Demirbas D, Edman J, Ficicioglu C, Goff M,
            Hacker S, Knerr I, Lancaster K, Li H, Mendelsohn BA, Nichols B, de
            Rezende Pinto WBV, Rocha JC, Rubio-Gozalbo ME, Saad-Naguib M,
            Scholl-Buergi S, Searcy S, de Souza PVS, Wittenauer A and
            Fridovich-Keil JL.
  TITLE     A multinational study of acute and long-term outcomes of Type 1
            galactosemia patients who carry the S135L (c.404C > T) variant of
            GALT
  JOURNAL   J Inherit Metab Dis 45 (6), 1106-1117 (2022)
   PUBMED   36093991
  REMARK    GeneRIF: A multinational study of acute and long-term outcomes of
            Type 1 galactosemia patients who carry the S135L (c.404C > T)
            variant of GALT.
REFERENCE   3  (bases 1 to 1756)
  AUTHORS   Verdino A, D'Urso G, Tammone C, Scafuri B and Marabotti A.
  TITLE     Analysis of the Structure-Function-Dynamics Relationships of GALT
            Enzyme and of Its Pathogenic Mutant p.Q188R: A Molecular Dynamics
            Simulation Study in Different Experimental Conditions
  JOURNAL   Molecules 26 (19), 5941 (2021)
   PUBMED   34641485
  REMARK    GeneRIF: Analysis of the Structure-Function-Dynamics Relationships
            of GALT Enzyme and of Its Pathogenic Mutant p.Q188R: A Molecular
            Dynamics Simulation Study in Different Experimental Conditions.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1756)
  AUTHORS   Calderon FR, Phansalkar AR, Crockett DK, Miller M and Mao R.
  TITLE     Mutation database for the galactose-1-phosphate uridyltransferase
            (GALT) gene
  JOURNAL   Hum Mutat 28 (10), 939-943 (2007)
   PUBMED   17486650
REFERENCE   5  (bases 1 to 1756)
  AUTHORS   Fridovich-Keil,J.L., Gambello,M.J., Singh,R.H. and Sharer,J.D.
  TITLE     Duarte Variant Galactosemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   25473725
REFERENCE   6  (bases 1 to 1756)
  AUTHORS   Berry,G.T.
  TITLE     Classic Galactosemia and Clinical Variant Galactosemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301691
REFERENCE   7  (bases 1 to 1756)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   8  (bases 1 to 1756)
  AUTHORS   Leslie ND, Immerman EB, Flach JE, Florez M, Fridovich-Keil JL and
            Elsas LJ.
  TITLE     The human galactose-1-phosphate uridyltransferase gene
  JOURNAL   Genomics 14 (2), 474-480 (1992)
   PUBMED   1427861
REFERENCE   9  (bases 1 to 1756)
  AUTHORS   Reichardt JK, Belmont JW, Levy HL and Woo SL.
  TITLE     Characterization of two missense mutations in human
            galactose-1-phosphate uridyltransferase: different molecular
            mechanisms for galactosemia
  JOURNAL   Genomics 12 (3), 596-600 (1992)
   PUBMED   1373122
REFERENCE   10  (bases 1 to 1756)
  AUTHORS   Reichardt JK.
  TITLE     Genetic basis of galactosemia
  JOURNAL   Hum Mutat 1 (3), 190-196 (1992)
   PUBMED   1301925
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.19953.1,
            DRR138524.1265494.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378842.8/ ENSP00000368119.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC015045.2, AK314340.1,
            AI292159.1 and AL162231.20.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000155.3.
            Summary: Galactose-1-phosphate uridyl transferase (GALT) catalyzes
            the second step of the Leloir pathway of galactose metabolism,
            namely the conversion of UDP-glucose + galactose-1-phosphate to
            glucose-1-phosphate + UDP-galactose. The absence of this enzyme
            results in classic galactosemia in humans and can be fatal in the
            newborn period if lactose is not removed from the diet. The
            pathophysiology of galactosemia has not been clearly defined. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Apr 2012].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1756
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..1756
                     /gene="GALT"
                     /note="galactose-1-phosphate uridylyltransferase"
                     /db_xref="GeneID:2592"
                     /db_xref="HGNC:HGNC:4135"
                     /db_xref="MIM:606999"
     CDS             31..1170
                     /gene="GALT"
                     /EC_number="2.7.7.12"
                     /note="isoform 1 is encoded by transcript variant 1;
                     galactose-1-phosphate uridyl transferase; gal-1-P
                     uridylyltransferase; UDP-glucose--hexose-1-phosphate
                     uridylyltransferase"
                     /codon_start=1
                     /product="galactose-1-phosphate uridylyltransferase isoform
                     1"
                     /protein_id="NP_000146.2"
                     /db_xref="CCDS:CCDS6565.1"
                     /db_xref="GeneID:2592"
                     /db_xref="HGNC:HGNC:4135"
                     /db_xref="MIM:606999"
                     /translation="MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVS
                     AHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIRANGEVNPQYDSTFLFDNDFPALQP
                     DAPSPGPSDHPLFQAKSARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGA
                     QYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYS
                     RQELLRKERLVLTSEHWLVLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKK
                     LLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYE
                     MLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRETATIA"
     misc_feature    31..93
                     /gene="GALT"
                     /note="propagated from UniProtKB/Swiss-Prot (P07902.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1278..1283
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALT"
                     /note="hexamer: AATAAA"
     polyA_site      1298
                     /gene="GALT"
                     /note="major polyA site"
     regulatory      1441..1446
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALT"
                     /note="hexamer: AACAAA"
     regulatory      1460..1465
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALT"
                     /note="hexamer: ATTATA"
     polyA_site      1463
                     /gene="GALT"
     polyA_site      1486
                     /gene="GALT"
ORIGIN
        1 agattttcca gcggatcccc cggtggcctc atgtcgcgca gtggaaccga tcctcagcaa
       61 cgccagcagg cgtcagaggc ggacgccgca gcagcaacct tccgggcaaa cgaccatcag
      121 catatccgct acaacccgct gcaggatgag tgggtgctgg tgtcagctca ccgcatgaag
      181 cggccctggc agggtcaagt ggagccccag cttctgaaga cagtgccccg ccatgaccct
      241 ctcaaccctc tgtgtcctgg ggccatccga gccaacggag aggtgaatcc ccagtacgat
      301 agcaccttcc tgtttgacaa cgacttccca gctctgcagc ctgatgcccc cagtccagga
      361 cccagtgatc atcccctttt ccaagcaaag tctgctcgag gagtctgtaa ggtcatgtgc
      421 ttccacccct ggtcggatgt aacgctgcca ctcatgtcgg tccctgagat ccgggctgtt
      481 gttgatgcat gggcctcagt cacagaggag ctgggtgccc agtacccttg ggtgcagatc
      541 tttgaaaaca aaggtgccat gatgggctgt tctaaccccc acccccactg ccaggtatgg
      601 gccagcagtt tcctgccaga tattgcccag cgtgaggagc gatctcagca ggcctataag
      661 agtcagcatg gagagcccct gctaatggag tacagccgcc aggagctact caggaaggaa
      721 cgtctggtcc taaccagtga gcactggtta gtactggtcc ccttctgggc aacatggccc
      781 taccagacac tgctgctgcc ccgtcggcat gtgcggcggc tacctgagct gacccctgct
      841 gagcgtgatg atctagcctc catcatgaag aagctcttga ccaagtatga caacctcttt
      901 gagacgtcct ttccctactc catgggctgg catggggctc ccacaggatc agaggctggg
      961 gccaactgga accattggca gctgcacgct cattactacc ctccgctcct gcgctctgcc
     1021 actgtccgga aattcatggt tggctacgaa atgcttgctc aggctcagag ggacctcacc
     1081 cctgagcagg ctgcagagag actaagggca cttcctgagg ttcattacca cctggggcag
     1141 aaggacaggg agacagcaac catcgcctga ccacgccgac cacagggcct tgaatccttt
     1201 tttgttttca acagtcttgc tgaattaagc agaaagggcc ttgaatcctg gcctggaatt
     1261 tgggcagata tagcattaat aaaactgtgc atctcaaact tttatcacat actctaatat
     1321 cagaggagtg tgaaccttca gagatctagg gttaaaagct aaaggcatag ctccagctac
     1381 aacttttctt tgtctacaga tgtgtaaaat cttgatgcaa aaatctaccc caaatttctg
     1441 aacaaaatta atattcagta ttatatctag cctatagatt ctcttactct tggtgtaatg
     1501 acagcattcc cagtttagga aactgtttta aaatcttgtg tcttggttgt ggctgaggct
     1561 ttgggaaggc cagagccccc tttgccacca cccctagggt gtcagctcca agcctgggcc
     1621 tgagggtttg atggggagcg ggtgagctgg atcctgatcc cagtggtcag tggccagatc
     1681 ctgggctgct ggccagaacc ctggctttgt gagtggctgc agcttggctc tgctccagcc
     1741 cacaggggct aaaggg
//
LOCUS       NM_000156               1110 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript
            variant 1, mRNA.
ACCESSION   NM_000156
VERSION     NM_000156.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1110)
  AUTHORS   Shen M, Yang G, Chen Z, Yang K, Dong H, Yin C, Cheng Y, Zhang C, Gu
            F, Yang Y and Tian Y.
  TITLE     Identification of novel variations in SLC6A8 and GAMT genes causing
            cerebral creatine deficiency syndrome
  JOURNAL   Clin Chim Acta 532, 29-36 (2022)
   PUBMED   35588794
  REMARK    GeneRIF: Identification of novel variations in SLC6A8 and GAMT genes
            causing cerebral creatine deficiency syndrome.
REFERENCE   2  (bases 1 to 1110)
  AUTHORS   Gong C, Zhou M, Hu Y, Ren Z, Ren J and Yao M.
  TITLE     Elastic net-based identification of GAMT as potential diagnostic
            marker for early-stage gastric cancer
  JOURNAL   Biochem Biophys Res Commun 591, 7-12 (2022)
   PUBMED   34990904
  REMARK    GeneRIF: Elastic net-based identification of GAMT as potential
            diagnostic marker for early-stage gastric cancer.
REFERENCE   3  (bases 1 to 1110)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1110)
  AUTHORS   Desroches CL, Patel J, Wang P, Minassian B, Marshall CR, Salomons GS
            and Mercimek-Mahmutoglu S.
  TITLE     Carrier frequency of guanidinoacetate methyltransferase deficiency
            in the general population by functional characterization of missense
            variants in the GAMT gene
  JOURNAL   Mol Genet Genomics 290 (6), 2163-2171 (2015)
   PUBMED   26003046
  REMARK    GeneRIF: As early diagnosis results in normal neurodevelopmental
            outcome, GAMT deficiency should be included in newborn screening
            programs to diagnose individuals at the asymptomatic stage of the
            disease
REFERENCE   5  (bases 1 to 1110)
  AUTHORS   Chae YJ, Chung CE, Kim BJ, Lee MH and Lee H.
  TITLE     The gene encoding guanidinoacetate methyltransferase (GAMT) maps to
            human chromosome 19 at band p13.3 and to mouse chromosome 10
  JOURNAL   Genomics 49 (1), 162-164 (1998)
   PUBMED   9570966
REFERENCE   6  (bases 1 to 1110)
  AUTHORS   Polyak K, Xia Y, Zweier JL, Kinzler KW and Vogelstein B.
  TITLE     A model for p53-induced apoptosis
  JOURNAL   Nature 389 (6648), 300-305 (1997)
   PUBMED   9305847
REFERENCE   7  (bases 1 to 1110)
  AUTHORS   Stockler S, Isbrandt D, Hanefeld F, Schmidt B and von Figura K.
  TITLE     Guanidinoacetate methyltransferase deficiency: the first inborn
            error of creatine metabolism in man
  JOURNAL   Am J Hum Genet 58 (5), 914-922 (1996)
   PUBMED   8651275
REFERENCE   8  (bases 1 to 1110)
  AUTHORS   Isbrandt D and von Figura K.
  TITLE     Cloning and sequence analysis of human guanidinoacetate
            N-methyltransferase cDNA
  JOURNAL   Biochim Biophys Acta 1264 (3), 265-267 (1995)
   PUBMED   8547310
REFERENCE   9  (bases 1 to 1110)
  AUTHORS   Mercimek-Andrews,S. and Salomons,G.S.
  TITLE     Creatine Deficiency Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301745
REFERENCE   10  (bases 1 to 1110)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DRR138522.687271.1,
            DRR138524.802058.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148093,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000252288.8/ ENSP00000252288.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005329.1 and BC016760.2.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000156.5.
            Summary: The protein encoded by this gene is a methyltransferase
            that converts guanidoacetate to creatine, using
            S-adenosylmethionine as the methyl donor. Defects in this gene have
            been implicated in neurologic syndromes and muscular hypotonia,
            probably due to creatine deficiency and accumulation of
            guanidinoacetate in the brain of affected individuals. Two
            transcript variants encoding different isoforms have been described
            for this gene. Pseudogenes of this gene are found on chromosomes 2
            and 13. [provided by RefSeq, Feb 2012].
            Transcript Variant: This variant (1) is the longer transcript but
            encodes the shorter isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1110
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..1110
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
                     /note="guanidinoacetate N-methyltransferase"
                     /db_xref="GeneID:2593"
                     /db_xref="HGNC:HGNC:4136"
                     /db_xref="MIM:601240"
     CDS             67..777
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
                     /EC_number="2.1.1.2"
                     /note="isoform a is encoded by transcript variant 1;
                     epididymis secretory protein Li 20"
                     /codon_start=1
                     /product="guanidinoacetate N-methyltransferase isoform a"
                     /protein_id="NP_000147.1"
                     /db_xref="CCDS:CCDS12064.1"
                     /db_xref="GeneID:2593"
                     /db_xref="HGNC:HGNC:4136"
                     /db_xref="MIM:601240"
                     /translation="MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERW
                     ETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLRDWAP
                     RQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLLKPG
                     GVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRY
                     YAFPQMITPLVTKG"
     misc_feature    70..72
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (Q14353.1); acetylation site"
     misc_feature    334..342
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14353.1);
                     Region: S-adenosyl-L-methionine"
     regulatory      1010..1015
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
                     /note="hexamer: AGTAAA"
     polyA_site      1043
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
                     /note="major polyA site"
     polyA_site      1061
                     /gene="GAMT"
                     /gene_synonym="CCDS2; HEL-S-20; PIG2; TP53I2"
ORIGIN
        1 aagcccctgc agggagcggg cccgggcggc gcgcgatcga ggtcgggtcg ccgtccagcc
       61 tgcagcatga gcgcccccag cgcgaccccc atcttcgcgc ccggcgagaa ctgcagcccc
      121 gcgtgggggg cggcgcccgc ggcctacgac gcagcggaca cgcacctgcg catcctgggc
      181 aagccggtga tggagcgctg ggagaccccc tatatgcacg cgctggccgc cgccgcctcc
      241 tccaaagggg gccgggtcct ggaggtgggc tttggcatgg ccatcgcagc gtcaaaggtg
      301 caggaggcgc ccattgatga gcattggatc atcgagtgca atgacggcgt cttccagcgg
      361 ctccgggact gggccccacg gcagacacac aaggtcatcc ccttgaaagg cctgtgggag
      421 gatgtggcac ccaccctgcc tgacggtcac tttgatggga tcctgtacga cacgtaccca
      481 ctctcggagg agacctggca cacacaccag ttcaacttca tcaagaacca cgcctttcgc
      541 ctgctgaagc cggggggcgt cctcacctac tgcaacctca cctcctgggg ggagctgatg
      601 aagtccaagt actcagacat caccatcatg tttgaggaga cgcaggtgcc cgcgctgctg
      661 gaggccggct tccggaggga gaacatccgt acggaggtga tggcgctggt cccaccggcc
      721 gactgccgct actacgcctt cccacagatg atcacgcccc tggtgaccaa aggctgagcc
      781 cccaccccgg cccggccaca cccatgccct cctccgtgcc ttcctggccg ggagtccagg
      841 gtgtcgcacc agccctgggc tgatcccagc tgtgtgtcac cagaagcttt cccggcttct
      901 ctgtgagggg tcccaccagc ccagggctga tcccagctgt gtgtcaccag cagctttccc
      961 agcttctctg tgagggtcac tgctgcccac tgcagggtcc ctgaggtgaa gtaaacgccg
     1021 gcgctgggct tggccagtcg gcagtgagcg tgcgactgtt acttccagcg gctgctccct
     1081 cacctcccgc ccatcccatg gacacaggaa
//
LOCUS       NM_000157               2291 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens glucosylceramidase beta 1 (GBA1), transcript variant 1,
            mRNA.
ACCESSION   NM_000157
VERSION     NM_000157.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2291)
  AUTHORS   Ramalingam S, Kumar A, Krug S, Mohan H, Rao DN, Bishai WR and
            Chandrasegaran S.
  TITLE     CRISPR Correction of the GBA Mutation in Human-Induced Pluripotent
            Stem Cells Restores Normal Function to Gaucher Macrophages and
            Increases Their Susceptibility to Mycobacterium tuberculosis
  JOURNAL   J Infect Dis 228 (6), 777-782 (2023)
   PUBMED   37159513
  REMARK    GeneRIF: CRISPR Correction of the GBA Mutation in Human-Induced
            Pluripotent Stem Cells Restores Normal Function to Gaucher
            Macrophages and Increases Their Susceptibility to Mycobacterium
            tuberculosis.
REFERENCE   2  (bases 1 to 2291)
  AUTHORS   Chen D, Zheng Y, Zhang G, Huang Y, Zheng B, Zhang J, Xiong F and Su
            Q.
  TITLE     The loss of function GBA1 c.231C > G mutation associated with
            Parkinson disease
  JOURNAL   J Neural Transm (Vienna) 130 (7), 905-913 (2023)
   PUBMED   37280314
  REMARK    GeneRIF: The loss of function GBA1 c.231C > G mutation associated
            with Parkinson disease.
REFERENCE   3  (bases 1 to 2291)
  AUTHORS   Shani S, Goldstein O, Gana-Weisz M, Bar-Shira A, Thaler A, Gurevich
            T, Mirelman A, Giladi N, Alcalay RN and Orr-Urtreger A.
  TITLE     Variants in PSMB9 and FGR differentially affect Parkinson's disease
            risk in GBA and LRRK2 mutation carriers
  JOURNAL   Parkinsonism Relat Disord 111, 105398 (2023)
   PUBMED   37116292
  REMARK    GeneRIF: Variants in PSMB9 and FGR differentially affect Parkinson's
            disease risk in GBA and LRRK2 mutation carriers.
REFERENCE   4  (bases 1 to 2291)
  AUTHORS   Subbotina TN, Abramov VG, Shaleva AA, Vereschagina SV and Pokhabov
            DV.
  TITLE     [Analysis of GBA mutations in patients with Parkinson's disease in
            the Krasnoyarsk region]
  JOURNAL   Zh Nevrol Psikhiatr Im S S Korsakova 123 (4), 103-108 (2023)
   PUBMED   37084373
  REMARK    GeneRIF: [Analysis of GBA mutations in patients with Parkinson's
            disease in the Krasnoyarsk region].
REFERENCE   5  (bases 1 to 2291)
  AUTHORS   Pastores,G.M. and Hughes,D.A.
  TITLE     Gaucher Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301446
REFERENCE   6  (bases 1 to 2291)
  AUTHORS   Cook Shukla,L., Schulze,J., Farlow,J., Pankratz,N.D., Wojcieszek,J.
            and Foroud,T.
  TITLE     Parkinson Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301402
REFERENCE   7  (bases 1 to 2291)
  AUTHORS   Tybulewicz VL, Tremblay ML, LaMarca ME, Willemsen R, Stubblefield
            BK, Winfield S, Zablocka B, Sidransky E, Martin BM, Huang SP et al.
  TITLE     Animal model of Gaucher's disease from targeted disruption of the
            mouse glucocerebrosidase gene
  JOURNAL   Nature 357 (6377), 407-410 (1992)
   PUBMED   1594045
REFERENCE   8  (bases 1 to 2291)
  AUTHORS   Beutler E, West C and Gelbart T.
  TITLE     Polymorphisms in the human glucocerebrosidase gene
  JOURNAL   Genomics 12 (4), 795-800 (1992)
   PUBMED   1572652
REFERENCE   9  (bases 1 to 2291)
  AUTHORS   Latham TE, Theophilus BD, Grabowski GA and Smith FI.
  TITLE     Heterogeneity of mutations in the acid beta-glucosidase gene of
            Gaucher disease patients
  JOURNAL   DNA Cell Biol 10 (1), 15-21 (1991)
   PUBMED   1899336
REFERENCE   10  (bases 1 to 2291)
  AUTHORS   Sorge J, Gross E, West C and Beutler E.
  TITLE     High level transcription of the glucocerebrosidase pseudogene in
            normal subjects and patients with Gaucher disease
  JOURNAL   J Clin Invest 86 (4), 1137-1141 (1990)
   PUBMED   1698821
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC003356.1, M19285.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368373.8/ ENSP00000357357.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC297079.1 and BC003356.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000157.3.
            Summary: This gene encodes a lysosomal membrane protein that
            cleaves the beta-glucosidic linkage of glycosylceramide, an
            intermediate in glycolipid metabolism. Mutations in this gene cause
            Gaucher disease, a lysosomal storage disease characterized by an
            accumulation of glucocerebrosides. A related pseudogene is
            approximately 12 kb downstream of this gene on chromosome 1.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2010].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2291
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..2291
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /note="glucosylceramidase beta 1"
                     /db_xref="GeneID:2629"
                     /db_xref="HGNC:HGNC:4177"
                     /db_xref="MIM:606463"
     misc_feature    36..38
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /note="upstream in-frame stop codon"
     CDS             138..1748
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /EC_number="3.2.1.45"
                     /EC_number="3.2.1.46"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; D-glucosyl-N-acylsphingosine glucohydrolase;
                     glucosidase, beta, acid; lysosomal glucocerebrosidase;
                     imiglucerase; alglucerase; beta-glucocerebrosidase;
                     beta-GC; acid beta-glucosidase; glucosylceramidase-like
                     protein; SGTase; lysosomal acid GCase;
                     cholesteryl-beta-glucosidase; cholesterol
                     glucosyltransferase; lysosomal acid glucosylceramidase;
                     lysosomal glycosylceramidase; lysosomal
                     galactosylceramidase; lysosomal cholesterol
                     glycosyltransferase; beta-glucosylceramidase 1"
                     /codon_start=1
                     /product="lysosomal acid glucosylceramidase isoform 1
                     precursor"
                     /protein_id="NP_000148.2"
                     /db_xref="CCDS:CCDS1102.1"
                     /db_xref="GeneID:2629"
                     /db_xref="HGNC:HGNC:4177"
                     /db_xref="MIM:606463"
                     /translation="MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIP
                     KSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGL
                     LLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMA
                     SCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPT
                     WLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLS
                     GYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEA
                     AKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRG
                     MQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYH
                     LGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVG
                     FLETISPGYSIHTYLWRRQ"
     sig_peptide     138..254
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
     mat_peptide     255..1745
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /product="lysosomal acid glucosylceramidase isoform 1"
     misc_feature    309..311
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12792654,
                     ECO:0000269|PubMed:17139081; propagated from
                     UniProtKB/Swiss-Prot (P04062.3); glycosylation site"
     misc_feature    429..431
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:17139081, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (P04062.3);
                     glycosylation site"
     misc_feature    690..692
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:17139081; propagated from
                     UniProtKB/Swiss-Prot (P04062.3); glycosylation site"
     misc_feature    1062..1064
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04062.3); glycosylation site"
     misc_feature    1638..1640
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P04062.3); glycosylation site"
     polyA_site      2291
                     /gene="GBA1"
                     /gene_synonym="GBA; GCB; GLUC"
                     /note="major polyA site"
ORIGIN
        1 ggaattactt gcagggctaa cctagtgcct atagctaagg caggtacctg catccttgtt
       61 tttgtttagt ggatcctcta tccttcagag actctggaac ccctgtggtc ttctcttcat
      121 ctaatgaccc tgaggggatg gagttttcaa gtccttccag agaggaatgt cccaagcctt
      181 tgagtagggt aagcatcatg gctggcagcc tcacaggatt gcttctactt caggcagtgt
      241 cgtgggcatc aggtgcccgc ccctgcatcc ctaaaagctt cggctacagc tcggtggtgt
      301 gtgtctgcaa tgccacatac tgtgactcct ttgacccccc gacctttcct gcccttggta
      361 ccttcagccg ctatgagagt acacgcagtg ggcgacggat ggagctgagt atggggccca
      421 tccaggctaa tcacacgggc acaggcctgc tactgaccct gcagccagaa cagaagttcc
      481 agaaagtgaa gggatttgga ggggccatga cagatgctgc tgctctcaac atccttgccc
      541 tgtcaccccc tgcccaaaat ttgctactta aatcgtactt ctctgaagaa ggaatcggat
      601 ataacatcat ccgggtaccc atggccagct gtgacttctc catccgcacc tacacctatg
      661 cagacacccc tgatgatttc cagttgcaca acttcagcct cccagaggaa gataccaagc
      721 tcaagatacc cctgattcac cgagccctgc agttggccca gcgtcccgtt tcactccttg
      781 ccagcccctg gacatcaccc acttggctca agaccaatgg agcggtgaat gggaaggggt
      841 cactcaaggg acagcccgga gacatctacc accagacctg ggccagatac tttgtgaagt
      901 tcctggatgc ctatgctgag cacaagttac agttctgggc agtgacagct gaaaatgagc
      961 cttctgctgg gctgttgagt ggatacccct tccagtgcct gggcttcacc cctgaacatc
     1021 agcgagactt cattgcccgt gacctaggtc ctaccctcgc caacagtact caccacaatg
     1081 tccgcctact catgctggat gaccaacgct tgctgctgcc ccactgggca aaggtggtac
     1141 tgacagaccc agaagcagct aaatatgttc atggcattgc tgtacattgg tacctggact
     1201 ttctggctcc agccaaagcc accctagggg agacacaccg cctgttcccc aacaccatgc
     1261 tctttgcctc agaggcctgt gtgggctcca agttctggga gcagagtgtg cggctaggct
     1321 cctgggatcg agggatgcag tacagccaca gcatcatcac gaacctcctg taccatgtgg
     1381 tcggctggac cgactggaac cttgccctga accccgaagg aggacccaat tgggtgcgta
     1441 actttgtcga cagtcccatc attgtagaca tcaccaagga cacgttttac aaacagccca
     1501 tgttctacca ccttggccac ttcagcaagt tcattcctga gggctcccag agagtggggc
     1561 tggttgccag tcagaagaac gacctggacg cagtggcact gatgcatccc gatggctctg
     1621 ctgttgtggt cgtgctaaac cgctcctcta aggatgtgcc tcttaccatc aaggatcctg
     1681 ctgtgggctt cctggagaca atctcacctg gctactccat tcacacctac ctgtggcgtc
     1741 gccagtgatg gagcagatac tcaaggaggc actgggctca gcctgggcat taaagggaca
     1801 gagtcagctc acacgctgtc tgtgactaaa gagggcacag cagggccagt gtgagcttac
     1861 agcgacgtaa gcccaggggc aatggtttgg gtgactcact ttcccctcta ggtggtgcca
     1921 ggggctggag gcccctagaa aaagatcagt aagccccagt gtccccccag cccccatgct
     1981 tatgtgaaca tgcgctgtgt gctgcttgct ttggaaactg ggcctgggtc caggcctagg
     2041 gtgagctcac tgtccgtaca aacacaagat cagggctgag ggtaaggaaa agaagagact
     2101 aggaaagctg ggcccaaaac tggagactgt ttgtctttcc tggagatgca gaactgggcc
     2161 cgtggagcag cagtgtcagc atcagggcgg aagccttaaa gcagcagcgg gtgtgcccag
     2221 gcacccagat gattcctatg gcaccagcca ggaaaaatgg cagctcttaa aggagaaaat
     2281 gtttgagccc a
//
LOCUS       NM_000158               2941 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens 1,4-alpha-glucan branching enzyme 1 (GBE1), mRNA.
ACCESSION   NM_000158
VERSION     NM_000158.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2941)
  AUTHORS   Uemura MT, Suh ER, Robinson JL, Brunden KR, Grossman M, Irwin DJ,
            Lee VM, Trojanowski JQ, Lee EB and Van Deerlin VM.
  TITLE     Abundant copathologies of polyglucosan bodies, frontotemporal lobar
            degeneration with TDP-43 inclusions and ageing-related tau
            astrogliopathy in a family with a GBE1 mutation
  JOURNAL   Neuropathol Appl Neurobiol 49 (1), e12865 (2023)
   PUBMED   36456471
  REMARK    GeneRIF: Abundant copathologies of polyglucosan bodies,
            frontotemporal lobar degeneration with TDP-43 inclusions and
            ageing-related tau astrogliopathy in a family with a GBE1 mutation.
REFERENCE   2  (bases 1 to 2941)
  AUTHORS   Kim DK, Weller B, Lin CW, Sheykhkarimli D, Knapp JJ, Dugied G,
            Zanzoni A, Pons C, Tofaute MJ, Maseko SB, Spirohn K, Laval F,
            Lambourne L, Kishore N, Rayhan A, Sauer M, Young V, Halder H, la
            Rosa NM, Pogoutse O, Strobel A, Schwehn P, Li R, Rothballer ST,
            Altmann M, Cassonnet P, Cote AG, Vergara LE, Hazelwood I, Liu BB,
            Nguyen M, Pandiarajan R, Dohai B, Coloma PAR, Poirson J, Giuliana P,
            Willems L, Taipale M, Jacob Y, Hao T, Hill DE, Brun C, Twizere JC,
            Krappmann D, Heinig M, Falter C, Aloy P, Demeret C, Vidal M,
            Calderwood MA, Roth FP and Falter-Braun P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   3  (bases 1 to 2941)
  AUTHORS   Fanjul-Fernandez M, Brown NJ, Hickey P, Diakumis P, Rafehi H,
            Bozaoglu K, Green CC, Rattray A, Young S, Alhuzaimi D, Mountford HS,
            Gillies G, Lukic V, Vick T, Finlay K, Coe BP, Eichler EE, Delatycki
            MB, Wilson SJ, Bahlo M, Scheffer IE and Lockhart PJ.
  TITLE     A family study implicates GBE1 in the etiology of autism spectrum
            disorder
  JOURNAL   Hum Mutat 43 (1), 16-29 (2022)
   PUBMED   34633740
  REMARK    GeneRIF: A family study implicates GBE1 in the etiology of autism
            spectrum disorder.
REFERENCE   4  (bases 1 to 2941)
  AUTHORS   Souza PVS, Badia BML, Farias IB, Pinto WBVR, Oliveira ASB, Akman HO
            and DiMauro S.
  TITLE     GBE1-related disorders: Adult polyglucosan body disease and its
            neuromuscular phenotypes
  JOURNAL   J Inherit Metab Dis 44 (3), 534-543 (2021)
   PUBMED   33141444
  REMARK    GeneRIF: GBE1-related disorders: Adult polyglucosan body disease and
            its neuromuscular phenotypes. Review article
REFERENCE   5  (bases 1 to 2941)
  AUTHORS   Tang TT, Segura AD, Chen YT, Ricci LM, Franciosi RA, Splaingard ML
            and Lubinsky MS.
  TITLE     Neonatal hypotonia and cardiomyopathy secondary to type IV
            glycogenosis
  JOURNAL   Acta Neuropathol 87 (5), 531-536 (1994)
   PUBMED   8059607
REFERENCE   6  (bases 1 to 2941)
  AUTHORS   Thon VJ, Khalil M and Cannon JF.
  TITLE     Isolation of human glycogen branching enzyme cDNAs by screening
            complementation in yeast
  JOURNAL   J Biol Chem 268 (10), 7509-7513 (1993)
   PUBMED   8463281
REFERENCE   7  (bases 1 to 2941)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24501781
REFERENCE   8  (bases 1 to 2941)
  AUTHORS   Magoulas,P.L. and El-Hattab,A.W.
  TITLE     Glycogen Storage Disease Type IV
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   23285490
REFERENCE   9  (bases 1 to 2941)
  AUTHORS   Akman,H.O., Lossos,A. and Kakhlon,O.
  TITLE     GBE1 Adult Polyglucosan Body Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301758
REFERENCE   10  (bases 1 to 2941)
  AUTHORS   Brown,D.H. and Brown,B.I.
  TITLE     Studies of the residual glycogen branching enzyme activity present
            in human skin fibroblasts from patients with type IV glycogen
            storage disease
  JOURNAL   Biochem Biophys Res Commun 111 (2), 636-643 (1983)
   PUBMED   6220706
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L07956.1, AK125918.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000429644.7/ ENSP00000410833.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC017015.4, AC025029.16 and
            AC099049.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000158.3.
            Summary: The protein encoded by this gene is a glycogen branching
            enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl
            units from the outer end of a glycogen chain to an alpha-1,6
            position on the same or a neighboring glycogen chain. Branching of
            the chains is essential to increase the solubility of the glycogen
            molecule and, consequently, in reducing the osmotic pressure within
            cells. Highest level of this enzyme are found in liver and muscle.
            Mutations in this gene are associated with glycogen storage disease
            IV (also known as Andersen's disease). [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2941
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p12.2"
     gene            1..2941
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /note="1,4-alpha-glucan branching enzyme 1"
                     /db_xref="GeneID:2632"
                     /db_xref="HGNC:HGNC:4180"
                     /db_xref="MIM:607839"
     misc_feature    60..62
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /note="upstream in-frame stop codon"
     CDS             129..2237
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /EC_number="2.4.1.18"
                     /note="amylo-(1,4 to 1,6) transglucosidase; amylo-(1,4 to
                     1,6) transglycosylase; glycogen branching enzyme; brancher
                     enzyme; glucan (1,4-alpha-), branching enzyme 1"
                     /codon_start=1
                     /product="1,4-alpha-glucan-branching enzyme"
                     /protein_id="NP_000149.4"
                     /db_xref="CCDS:CCDS54612.1"
                     /db_xref="GeneID:2632"
                     /db_xref="HGNC:HGNC:4180"
                     /db_xref="MIM:607839"
                     /translation="MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDF
                     QRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDF
                     NGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKY
                     VVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCN
                     VLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGI
                     IVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLS
                     NIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHL
                     VHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMG
                     DIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGI
                     QLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLR
                     YKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTD
                     YRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALI
                     LQNVDLPN"
     misc_feature    132..134
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (Q04446.3); acetylation site"
     misc_feature    645..647
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455; propagated from
                     UniProtKB/Swiss-Prot (Q04446.3); phosphorylation site"
     regulatory      2763..2768
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /note="hexamer: TATAAA"
     polyA_site      2788
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /note="major polyA site"
     regulatory      2922..2927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /note="hexamer: AATAAA"
     polyA_site      2941
                     /gene="GBE1"
                     /gene_synonym="APBD; GBE; GSD4"
                     /note="major polyA site"
ORIGIN
        1 cggcttgcct cgacacgcct aggcgccctc cggctccgcc ctagccgccg cgtcccagct
       61 agagctccag cgcccgctca ggccccactc gacctctcgg gcctcggcta cttggactgc
      121 ggcggaatat ggcggctccg atgactcccg cggctcggcc cgaggactac gaggcggcgc
      181 tcaatgccgc cctggctgac gtgcccgaac tggccagact cctggagatc gacccgtact
      241 tgaagcccta cgccgtggac ttccagcgca ggtataagca gtttagccaa attttgaaga
      301 acattggaga aaatgaaggt ggtattgata agttttccag aggctatgaa tcatttggcg
      361 tccacagatg tgctgatggt ggtttatact gcaaagaatg ggccccggga gcagaaggag
      421 tttttcttac tggagatttt aatggttgga atccattttc gtacccatac aaaaaactgg
      481 attatggaaa atgggagctg tatatcccac caaagcagaa taaatctgta ctcgtgcctc
      541 atggatccaa attaaaggta gttattacta gtaaaagcgg agagatcttg tatcgtattt
      601 caccgtgggc aaagtatgtg gttcgtgaag gtgataatgt gaattatgat tggatacact
      661 gggatccaga acactcatat gagtttaagc attccagacc aaagaagcca cggagtctaa
      721 gaatttatga atctcatgtg ggaatttctt cccatgaagg aaaagtagct tcttataaac
      781 attttacatg caatgtacta ccaagaatca aaggccttgg atacaactgc attcagttga
      841 tggcaatcat ggagcatgct tactatgcca gctttggtta ccaaatcaca agcttctttg
      901 cagcttccag ccgttatgga acacctgaag agctacaaga actggtagac acagctcatt
      961 ccatgggtat catagtcctc ttagatgtgg tacacagcca tgcttcaaaa aattcagcag
     1021 atggattgaa tatgtttgat gggacagatt cctgttattt tcattctgga cctagaggga
     1081 ctcatgatct ttgggatagc agattgtttg cctactccag ctgggaaatt ttaagattcc
     1141 ttctgtcaaa cataagatgg tggttggaag aatatcgctt tgatggattt cgttttgatg
     1201 gtgttacgtc catgctttat catcaccatg gagtgggtca aggtttctca ggtgattaca
     1261 gtgaatattt cggactacaa gtagatgaag atgccttgac ttacctcatg ttggcaaatc
     1321 atttggttca cacgctgtgt cccgattcta taacaatagc tgaggatgta tcaggaatgc
     1381 cagctctgtg ctctccaatt tcccagggag ggggtggttt tgactatcga ctagccatgg
     1441 caattccaga taagtggatt cagctactta aagagtttaa agatgaagac tggaacatgg
     1501 gcgatatagt atacacgctc acaaacaggc gctaccttga aaagtgcatt gcttatgcag
     1561 agagccatga tcaggcattg gttggggata agtcgctggc attttggttg atggatgccg
     1621 aaatgtatac aaacatgagt gtcctgactc cttttactcc agttattgat cgtggaatac
     1681 agcttcataa aatgattcga ctcattacgc atgggcttgg tggagaaggc tatctcaatt
     1741 tcatgggtaa tgaatttggg catcctgaat ggttagactt cccaagaaaa ggaaataatg
     1801 agagttacca ttatgccagg cggcagtttc atttaactga cgacgacctt cttcgctaca
     1861 agttcctaaa taattttgac agggatatga atagattgga agaaagatat ggttggcttg
     1921 cagctccaca ggcctacgtg agtgaaaaac atgaaggcaa taagatcatt gcttttgaaa
     1981 gagcaggtct tcttttcatt ttcaacttcc atccaagcaa gagctacact gactaccgag
     2041 ttggaacagc attgccaggg aaattcaaaa ttgtgctaga ttcagatgca gcggaatatg
     2101 gagggcatca gagactggac cacagcactg actttttttc tgaggctttt gaacataatg
     2161 ggcgtcccta ttctcttttg gtgtacattc caagcagagt ggccctcatc cttcagaatg
     2221 tggatctgcc gaattgaaga ggcctgattt cagctccacc agatgcagat ttgtgttttg
     2281 ttttcttgtt atcactgtca cacagcttat aacatgtatg cttttcagaa tacagttgtc
     2341 tagccaagcc atcaagtgtc tgaaattcaa tattggttta tgcaaataca gcaaactttt
     2401 atttaagtag atgggagaat atgtttaaaa tattaggaat cctagaccat attttcaagt
     2461 catcttagca gctaggattc tcaaatggaa gtgttatata taatatgtta aaaacatttt
     2521 gctttcctgg ctaattattt gatcctttta aattcaaatt tgaatcattt gtcatgtatg
     2581 attatttctg ttaaatgtac acagtattta agatggatat ttggtggctc tatttgttct
     2641 gatatctttt ggtctaaatt atgaggtacc aagattgttt ctttgtttct ttttttcaaa
     2701 ttgtgtttag aaatactgta ataaatatgc agtagtgata taaagaatta tatccaaggt
     2761 aatataaaag ccattacgta tgaactcatc cgtgtctcat tttgtgtttt attttgtgat
     2821 ctcttgtcca ctaagtatct tgttaaatgc cagtatctca gtctttctga agccctgaaa
     2881 tggtaattgt agcatttcag aaaatgtctt tcatttcaat caataaaaag cttttgtaaa
     2941 a
//
LOCUS       NM_000159               1852 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens glutaryl-CoA dehydrogenase (GCDH), transcript variant
            1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000159
VERSION     NM_000159.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1852)
  AUTHORS   Zhou J, Li G, Deng L, Zhao P, Zeng Y, Qiu X, Luo J and Xu L.
  TITLE     Biochemical and molecular features of chinese patients with glutaric
            acidemia type 1 from Fujian Province, southeastern China
  JOURNAL   Orphanet J Rare Dis 18 (1), 215 (2023)
   PUBMED   37496092
  REMARK    GeneRIF: Biochemical and molecular features of chinese patients with
            glutaric acidemia type 1 from Fujian Province, southeastern China.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1852)
  AUTHORS   Guo Z, Gong A, Liu S and Liang H.
  TITLE     Two novel compound heterozygous variants of the GCDH gene in two
            Chinese families with glutaric acidaemia type I identified by
            high-throughput sequencing and a literature review
  JOURNAL   Mol Genet Genomics 298 (3), 603-614 (2023)
   PUBMED   36906724
  REMARK    GeneRIF: Two novel compound heterozygous variants of the GCDH gene
            in two Chinese families with glutaric acidaemia type I identified by
            high-throughput sequencing and a literature review. Review article
REFERENCE   3  (bases 1 to 1852)
  AUTHORS   Paria P, Saini AG, Attri S, Kaur R, Malhi P, Didwal G, Kasinathan A,
            Bhatia P, Sahu JK, Suthar R, Saini L, Vyas S, Panigrahi I and
            Sankhyan N.
  TITLE     Identification of novel pathogenic variants in the GCDH gene and
            assessment of neurodevelopmental outcomes in 24 children with
            glutaric aciduria type 1
  JOURNAL   Eur J Paediatr Neurol 39, 49-58 (2022)
   PUBMED   35662016
  REMARK    GeneRIF: Identification of novel pathogenic variants in the GCDH
            gene and assessment of neurodevelopmental outcomes in 24 children
            with glutaric aciduria type 1.
REFERENCE   4  (bases 1 to 1852)
  AUTHORS   Schwartz M, Christensen E, Superti-Furga A and Brandt NJ.
  TITLE     The human glutaryl-CoA dehydrogenase gene: report of intronic
            sequences and of 13 novel mutations causing glutaric aciduria type I
  JOURNAL   Hum Genet 102 (4), 452-458 (1998)
   PUBMED   9600243
REFERENCE   5  (bases 1 to 1852)
  AUTHORS   Biery BJ, Stein DE, Morton DH and Goodman SI.
  TITLE     Gene structure and mutations of glutaryl-coenzyme A dehydrogenase:
            impaired association of enzyme subunits that is due to an A421V
            substitution causes glutaric acidemia type I in the Amish
  JOURNAL   Am J Hum Genet 59 (5), 1006-1011 (1996)
   PUBMED   8900227
REFERENCE   6  (bases 1 to 1852)
  AUTHORS   Goodman SI, Kratz LE, DiGiulio KA, Biery BJ, Goodman KE, Isaya G and
            Frerman FE.
  TITLE     Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild
            type and mutant enzymes in Escherichia coli
  JOURNAL   Hum Mol Genet 4 (9), 1493-1498 (1995)
   PUBMED   8541831
REFERENCE   7  (bases 1 to 1852)
  AUTHORS   Larson,A. and Goodman,S.
  TITLE     Glutaric Acidemia Type 1
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   31536184
REFERENCE   8  (bases 1 to 1852)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   9  (bases 1 to 1852)
  AUTHORS   Goodman SI, Kratz LE and Frerman FE.
  TITLE     Pork and human cDNAs encoding glutaryl-CoA dehydrogenase
  JOURNAL   Prog Clin Biol Res 375, 169-173 (1992)
   PUBMED   1438360
REFERENCE   10  (bases 1 to 1852)
  AUTHORS   Lenich,A.C. and Goodman,S.I.
  TITLE     The purification and characterization of glutaryl-coenzyme A
            dehydrogenase from porcine and human liver
  JOURNAL   J Biol Chem 261 (9), 4090-4096 (1986)
   PUBMED   3081514
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: KR674114.1, KT996148.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000222214.10/ ENSP00000222214.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290407.1, U69141.1 and
            BM855466.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000159.3.
            Summary: The protein encoded by this gene belongs to the acyl-CoA
            dehydrogenase family. It catalyzes the oxidative decarboxylation of
            glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway
            of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses
            electron transfer flavoprotein as its electron acceptor. The enzyme
            exists in the mitochondrial matrix as a homotetramer of 45-kD
            subunits. Mutations in this gene result in the metabolic disorder
            glutaric aciduria type 1, which is also known as glutaric acidemia
            type I. Alternative splicing of this gene results in multiple
            transcript variants. A related pseudogene has been identified on
            chromosome 12. [provided by RefSeq, Mar 2013].
            Transcript Variant: This variant (1) encodes the longer isoform (a,
            also known as the long isoform).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1852
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13"
     gene            1..1852
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /note="glutaryl-CoA dehydrogenase"
                     /db_xref="GeneID:2639"
                     /db_xref="HGNC:HGNC:4189"
                     /db_xref="MIM:608801"
     misc_feature    69..71
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /note="upstream in-frame stop codon"
     CDS             78..1394
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /EC_number="1.3.8.6"
                     /note="isoform a precursor is encoded by transcript variant
                     1; glutaryl-Coenzyme A dehydrogenase; glutaryl-CoA
                     dehydrogenase, mitochondrial"
                     /codon_start=1
                     /product="glutaryl-CoA dehydrogenase, mitochondrial isoform
                     a precursor"
                     /protein_id="NP_000150.1"
                     /db_xref="CCDS:CCDS12286.1"
                     /db_xref="GeneID:2639"
                     /db_xref="HGNC:HGNC:4189"
                     /db_xref="MIM:608801"
                     /translation="MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSR
                     PEFDWQDPLVLEEQLTTDEILIRDTFRTYCQERLMPRILLANRNEVFHREIISEMGELG
                     VLGPTIKGYGCAGVSSVAYGLLARELERVDSGYRSAMSVQSSLVMHPIYAYGSEEQRQK
                     YLPQLAKGELLGCFGLTEPNSGSDPSSMETRAHYNSSNKSYTLNGTKTWITNSPMADLF
                     VVWARCEDGCIRGFLLEKGMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENVLPGAS
                     SLGGPFGCLNNARYGIAWGVLGASEFCLHTARQYALDRMQFGVPLARNQLIQKKLADML
                     TEITLGLHACLQLGRLKDQDKAAPEMVSLLKRNNCGKALDIARQARDMLGGNGISDEYH
                     VIRHAMNLEAVNTYEGTHDIHALILGRAITGIQAFTASK"
     transit_peptide 78..209
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /note="Mitochondrion. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (Q92947.1)"
     mat_peptide     210..1391
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /product="Glutaryl-CoA dehydrogenase, mitochondrial.
                     /id=PRO_0000000526"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92947.1)"
     misc_feature    795..797
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q60759; propagated from
                     UniProtKB/Swiss-Prot (Q92947.1); acetylation site"
     regulatory      1802..1807
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /note="hexamer: AATAAA"
     polyA_site      1822
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
                     /note="major polyA site"
     polyA_site      1852
                     /gene="GCDH"
                     /gene_synonym="ACAD5; GCD"
ORIGIN
        1 agttgcactg tagcctcggc agtgaaccgg gaggtactac caggtcgccg tcgttgctcc
       61 gctcgctctg agagagcatg gccctgagag gcgtctccgt gcggctgctg agccgcggac
      121 ccggcctgca cgtccttcgc acgtgggtct cgtcggcggc gcagaccgag aaaggcggga
      181 gaacacagag ccaactggct aagtcctcgc gtcccgagtt tgactggcag gacccgctgg
      241 tgctggagga gcagctgacc acagatgaga tcctcatcag ggacaccttc cgcacctact
      301 gccaggagag actcatgcct cgcatcctgt tggccaatcg caacgaagtt tttcatcggg
      361 agatcatttc ggagatgggg gagttgggtg tgctgggccc caccatcaaa ggatatggct
      421 gtgctggggt ttcgtctgtg gcctatgggc tcctggcccg agagctggag cgggtggaca
      481 gtggctacag gtcggcgatg agtgtccagt cctccctcgt catgcaccct atctatgcct
      541 atggcagcga ggaacagcgg cagaagtacc tgccccagct ggccaagggg gagctcctgg
      601 gctgcttcgg gctcacagag cccaacagcg gaagtgaccc cagcagcatg gagaccagag
      661 cccactacaa ctcatccaac aagagctaca ccctcaatgg gaccaagacc tggatcacga
      721 actcgcctat ggccgatctg tttgtagtgt gggctcggtg tgaagatggc tgcattcggg
      781 gcttcctgct ggagaagggg atgcggggtc tctcggcccc caggatccag ggcaagttct
      841 cgctgcgggc ctcagccaca ggcatgatca tcatggacgg tgtggaggtg ccagaggaga
      901 atgtgctccc tggtgcatcc agcctggggg gtcccttcgg ctgcctgaac aacgcccggt
      961 acggcatcgc gtggggcgtg cttggagctt cggagttctg cttgcacaca gcccggcagt
     1021 acgccctcga caggatgcag tttggtgtcc cactggccag gaaccagctg attcagaaga
     1081 agctggcaga catgctcact gagattaccc tgggccttca cgcctgcctg cagctcggcc
     1141 gcttgaagga ccaggacaag gctgcccccg agatggtttc tctgctgaag aggaataact
     1201 gtgggaaagc cctggacatc gcccgccagg cccgagacat gctggggggg aatgggattt
     1261 ctgacgagta tcacgtgatc cggcacgcca tgaacctgga ggccgtgaac acctacgaag
     1321 gtacacatga cattcacgcc ctgatccttg ggagagctat cacgggaatc caggcgttca
     1381 cggccagcaa gtgagccgct ccatcagggg cccgaaactc tcaagcccct ttctggagag
     1441 atgcctggct ggaccgtagg agcgctgtgc tctgagctta gaaagggagg tggcggatgg
     1501 agtgggaagt gagagacact gatttttaaa tatcaaaatt tcccttctga agtcgttcag
     1561 atgtgttcct taaaaagaag atggaattct ctgtagagcg tctcaatcca cttttaacca
     1621 tggatgagag cagactccat ttaccctgaa atagcagctt ctcttgagag gagagtgaca
     1681 tggaagcaac tccgtctgct gcagctgacc ccctcacact gagttcacag tgcgccctcc
     1741 ctccctccca tctgggggta gtgccttatg ctgggtgttg gagcagagtg agggagagga
     1801 aaataaagac ctgcacatct gaccccaagg tgtcaggccg gtttactggt aa
//
LOCUS       NM_000160               2030 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens glucagon receptor (GCGR), mRNA.
ACCESSION   NM_000160
VERSION     NM_000160.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2030)
  AUTHORS   Cajulao JMB, Hernandez E, von Zastrow ME and Sanchez EL.
  TITLE     Glucagon receptor-mediated regulation of gluconeogenic gene
            transcription is endocytosis-dependent in primary hepatocytes
  JOURNAL   Mol Biol Cell 33 (10), ar90 (2022)
   PUBMED   35767325
  REMARK    GeneRIF: Glucagon receptor-mediated regulation of gluconeogenic gene
            transcription is endocytosis-dependent in primary hepatocytes.
REFERENCE   2  (bases 1 to 2030)
  AUTHORS   McGlone ER, Ansell TB, Dunsterville C, Song W, Carling D, Tomas A,
            Bloom SR, Sansom MSP, Tan T and Jones B.
  TITLE     Hepatocyte cholesterol content modulates glucagon receptor
            signalling
  JOURNAL   Mol Metab 63, 101530 (2022)
   PUBMED   35718339
  REMARK    GeneRIF: Hepatocyte cholesterol content modulates glucagon receptor
            signalling.
REFERENCE   3  (bases 1 to 2030)
  AUTHORS   Jia Y, Liu Y, Feng L, Sun S and Sun G.
  TITLE     Role of Glucagon and Its Receptor in the Pathogenesis of Diabetes
  JOURNAL   Front Endocrinol (Lausanne) 13, 928016 (2022)
   PUBMED   35784565
  REMARK    GeneRIF: Role of Glucagon and Its Receptor in the Pathogenesis of
            Diabetes. Review article Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2030)
  AUTHORS   McGlone ER, Manchanda Y, Jones B, Pickford P, Inoue A, Carling D,
            Bloom SR, Tan T and Tomas A.
  TITLE     Receptor Activity-Modifying Protein 2 (RAMP2) alters glucagon
            receptor trafficking in hepatocytes with functional effects on
            receptor signalling
  JOURNAL   Mol Metab 53, 101296 (2021)
   PUBMED   34271220
  REMARK    GeneRIF: Receptor Activity-Modifying Protein 2 (RAMP2) alters
            glucagon receptor trafficking in hepatocytes with functional effects
            on receptor signalling.
REFERENCE   5  (bases 1 to 2030)
  AUTHORS   Fujisawa T, Ikegami H, Yamato E, Takekawa K, Nakagawa Y, Hamada Y,
            Ueda H, Fukuda M and Ogihara T.
  TITLE     A mutation in the glucagon receptor gene (Gly40Ser): heterogeneity
            in the association with diabetes mellitus
  JOURNAL   Diabetologia 38 (8), 983-985 (1995)
   PUBMED   7589886
REFERENCE   6  (bases 1 to 2030)
  AUTHORS   Lok S, Kuijper JL, Jelinek LJ, Kramer JM, Whitmore TE, Sprecher CA,
            Mathewes S, Grant FJ, Biggs SH, Rosenberg GB et al.
  TITLE     The human glucagon receptor encoding gene: structure, cDNA sequence
            and chromosomal localization
  JOURNAL   Gene 140 (2), 203-209 (1994)
   PUBMED   8144028
REFERENCE   7  (bases 1 to 2030)
  AUTHORS   MacNeil DJ, Occi JL, Hey PJ, Strader CD and Graziano MP.
  TITLE     Cloning and expression of a human glucagon receptor
  JOURNAL   Biochem Biophys Res Commun 198 (1), 328-334 (1994)
   PUBMED   7507321
REFERENCE   8  (bases 1 to 2030)
  AUTHORS   Nakamura S and Rodbell M.
  TITLE     Glucagon induces disaggregation of polymer-like structures of the
            alpha subunit of the stimulatory G protein in liver membranes
  JOURNAL   Proc Natl Acad Sci U S A 88 (16), 7150-7154 (1991)
   PUBMED   1908089
REFERENCE   9  (bases 1 to 2030)
  AUTHORS   Horuk,R. and Wright,D.E.
  TITLE     Partial purification and characterization of the glucagon receptor
  JOURNAL   FEBS Lett 155 (2), 213-217 (1983)
   PUBMED   6303843
REFERENCE   10  (bases 1 to 2030)
  AUTHORS   Levey,G.S., Weiss,S.R. and Ruiz,E.
  TITLE     Characterization of the glucagon receptor in a pheochromocytoma
  JOURNAL   J Clin Endocrinol Metab 40 (4), 720-723 (1975)
   PUBMED   165216
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L20316.1, SRR5189664.113037.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2145122 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000400723.8/ ENSP00000383558.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA639395.1, BC104854.1,
            U03469.1 and L20316.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000160.4.
            Summary: The protein encoded by this gene is a glucagon receptor
            that is important in controlling blood glucose levels. Defects in
            this gene are a cause of non-insulin-dependent diabetes mellitus
            (NIDDM).[provided by RefSeq, Jan 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2030
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..2030
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="glucagon receptor"
                     /db_xref="GeneID:2642"
                     /db_xref="HGNC:HGNC:4192"
                     /db_xref="MIM:138033"
     misc_feature    263..265
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="upstream in-frame stop codon"
     CDS             278..1711
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /codon_start=1
                     /product="glucagon receptor precursor"
                     /protein_id="NP_000151.1"
                     /db_xref="CCDS:CCDS54177.1"
                     /db_xref="GeneID:2642"
                     /db_xref="HGNC:HGNC:4192"
                     /db_xref="MIM:138033"
                     /translation="MPPCQPQRPLLLLLLLLACQPQVPSAQVMDFLFEKWKLYGDQCHH
                     NLSLLPPPTELVCNRTFDKYSCWPDTPANTTANISCPWYLPWHHKVQHRFVFKRCGPDG
                     QWVRGPRGQPWRDASQCQMDGEEIEVQKEVAKMYSSFQVMYTVGYSLSLGALLLALAIL
                     GGLSKLHCTRNAIHANLFASFVLKASSVLVIDGLLRTRYSQKIGDDLSVSTWLSDGAVA
                     GCRVAAVFMQYGIVANYCWLLVEGLYLHNLLGLATLPERSFFSLYLGIGWGAPMLFVVP
                     WAVVKCLFENVQCWTSNDNMGFWWILRFPVFLAILINFFIFVRIVQLLVAKLRARQMHH
                     TDYKFRLAKSTLTLIPLLGVHEVVFAFVTDEHAQGTLRSAKLFFDLFLSSFQGLLVAVL
                     YCFLNKEVQSELRRRWHRWRLGKVLWEERNTSNHRASSSPGHGPPSKELQFGRGGGSQD
                     SSAETPLAGGLPRLAESPF"
     sig_peptide     278..352
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P47871.1)"
     mat_peptide     353..1708
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /product="Glucagon receptor. /id=PRO_0000012832"
                     /note="propagated from UniProtKB/Swiss-Prot (P47871.1)"
     misc_feature    413..415
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28514451; propagated from
                     UniProtKB/Swiss-Prot (P47871.1); glycosylation site"
     misc_feature    452..454
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28514451; propagated from
                     UniProtKB/Swiss-Prot (P47871.1); glycosylation site"
     misc_feature    497..499
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22908259,
                     ECO:0000269|PubMed:28514451, ECO:0007744|PDB:4ERS;
                     propagated from UniProtKB/Swiss-Prot (P47871.1);
                     glycosylation site"
     misc_feature    509..511
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22908259,
                     ECO:0000269|PubMed:28514451, ECO:0007744|PDB:4ERS;
                     propagated from UniProtKB/Swiss-Prot (P47871.1);
                     glycosylation site"
     misc_feature    686..760
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="propagated from UniProtKB/Swiss-Prot (P47871.1);
                     transmembrane region"
     misc_feature    797..871
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="propagated from UniProtKB/Swiss-Prot (P47871.1);
                     transmembrane region"
     misc_feature    953..1024
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="propagated from UniProtKB/Swiss-Prot (P47871.1);
                     transmembrane region"
     misc_feature    1067..1132
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="propagated from UniProtKB/Swiss-Prot (P47871.1);
                     transmembrane region"
     misc_feature    1187..1255
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="propagated from UniProtKB/Swiss-Prot (P47871.1);
                     transmembrane region"
     misc_feature    1325..1336
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="propagated from UniProtKB/Swiss-Prot (P47871.1);
                     Region: Important for allosteric inhibitor binding.
                     /evidence=ECO:0000269|PubMed:27111510,
                     ECO:0000269|PubMed:28514451"
     misc_feature    1328..1384
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="propagated from UniProtKB/Swiss-Prot (P47871.1);
                     transmembrane region"
     misc_feature    1421..1483
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="propagated from UniProtKB/Swiss-Prot (P47871.1);
                     transmembrane region"
     misc_feature    1568..1708
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="propagated from UniProtKB/Swiss-Prot (P47871.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1643..1645
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P47871.1); phosphorylation site"
     misc_feature    1652..1654
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P47871.1); phosphorylation site"
     regulatory      2010..2015
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="hexamer: AATAAA"
     polyA_site      2030
                     /gene="GCGR"
                     /gene_synonym="GGR; GL-R; MVAH"
                     /note="major polyA site"
ORIGIN
        1 gatctggcag cgccgcgaag acgagcggtc accggcgccc gacccgagcg cgcccagagg
       61 acggcgggga gccaagccga cccccgagca gcgccgcgcg gaccctgagg ctcagagggg
      121 cagcttcagg ggaggacacc ccactggcca ggacgcccca ggctctgctg ctctgccact
      181 cagctgccct cggaggagcg tacacaccca ccaggactgc attgccccag ctgtgcagcc
      241 cctgccagat gtgggaggca gctagctgcc cagaggcatg cccccctgcc agccacagcg
      301 acccctgctg ctgttgctgc tgctgctggc ctgccagcca caggtcccct ccgctcaggt
      361 gatggacttc ctgtttgaga agtggaagct ctacggtgac cagtgtcacc acaacctgag
      421 cctgctgccc cctcccacgg agctggtgtg caacagaacc ttcgacaagt attcctgctg
      481 gccggacacc cccgccaata ccacggccaa catctcctgc ccctggtacc tgccttggca
      541 ccacaaagtg caacaccgct tcgtgttcaa gagatgcggg cccgacggtc agtgggtgcg
      601 tggaccccgg gggcagcctt ggcgtgatgc ctcccagtgc cagatggatg gcgaggagat
      661 tgaggtccag aaggaggtgg ccaagatgta cagcagcttc caggtgatgt acacagtggg
      721 ctacagcctg tccctggggg ccctgctcct cgccttggcc atcctggggg gcctcagcaa
      781 gctgcactgc acccgcaatg ccatccacgc gaatctgttt gcgtccttcg tgctgaaagc
      841 cagctccgtg ctggtcattg atgggctgct caggacccgc tacagccaga aaattggcga
      901 cgacctcagt gtcagcacct ggctcagtga tggagcggtg gctggctgcc gtgtggccgc
      961 ggtgttcatg caatatggca tcgtggccaa ctactgctgg ctgctggtgg agggcctgta
     1021 cctgcacaac ctgctgggcc tggccaccct ccccgagagg agcttcttca gcctctacct
     1081 gggcatcggc tggggtgccc ccatgctgtt cgtcgtcccc tgggcagtgg tcaagtgtct
     1141 gttcgagaac gtccagtgct ggaccagcaa tgacaacatg ggcttctggt ggatcctgcg
     1201 gttccccgtc ttcctggcca tcctgatcaa cttcttcatc ttcgtccgca tcgttcagct
     1261 gctcgtggcc aagctgcggg cacggcagat gcaccacaca gactacaagt tccggctggc
     1321 caagtccacg ctgaccctca tccctctgct gggcgtccac gaagtggtct tcgccttcgt
     1381 gacggacgag cacgcccagg gcaccctgcg ctccgccaag ctcttcttcg acctcttcct
     1441 cagctccttc cagggcctgc tggtggctgt cctctactgc ttcctcaaca aggaggtgca
     1501 gtcggagctg cggcggcgtt ggcaccgctg gcgcctgggc aaagtgctat gggaggagcg
     1561 gaacaccagc aaccacaggg cctcatcttc gcccggccac ggccctccca gcaaggagct
     1621 gcagtttggg aggggtggtg gcagccagga ttcatctgcg gagaccccct tggctggtgg
     1681 cctccctaga ttggctgaga gccccttctg aaccctgctg ggaccccagc tagggctgga
     1741 ctctggcacc cagagggcgt cgctggacaa cccagaactg gacgcccagc tgaggctggg
     1801 ggcgggggag ccaacagcag cccccaccta ccccccaccc ccagtgtggc tgtctgcgag
     1861 attgggcctc ctctccctgc acctgccttg tccctggtgc agaggtgagc agaggagtcc
     1921 agggcgggag tgggggctgt gccgtgaact gcgtgccagt gtccccacgt atgtcggcac
     1981 gtcccatgtg catggaaatg tcctccaaca ataaagagct caagtggtca
//
LOCUS       NM_000161               2916 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens GTP cyclohydrolase 1 (GCH1), transcript variant 1,
            mRNA.
ACCESSION   NM_000161
VERSION     NM_000161.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2916)
  AUTHORS   Yin YL, Chen Y, Ren F, Wang L, Zhu ML, Lu JX, Wang QQ, Lu CB, Liu C,
            Bai YP, Wang SX, Wang JZ and Li P.
  TITLE     Nitrosative stress induced by homocysteine thiolactone drives
            vascular cognitive impairments via GTP cyclohydrolase 1
            S-nitrosylation in vivo
  JOURNAL   Redox Biol 58, 102540 (2022)
   PUBMED   36399957
  REMARK    GeneRIF: Nitrosative stress induced by homocysteine thiolactone
            drives vascular cognitive impairments via GTP cyclohydrolase 1
            S-nitrosylation in vivo.
REFERENCE   2  (bases 1 to 2916)
  AUTHORS   Jiang Y, Zhao J, Li R, Liu Y, Zhou L, Wang C, Lv C, Gao L and Cui D.
  TITLE     CircLRFN5 inhibits the progression of glioblastoma via PRRX2/GCH1
            mediated ferroptosis
  JOURNAL   J Exp Clin Cancer Res 41 (1), 307 (2022)
   PUBMED   36266731
  REMARK    GeneRIF: CircLRFN5 inhibits the progression of glioblastoma via
            PRRX2/GCH1 mediated ferroptosis. Erratum:[J Exp Clin Cancer Res.
            2022 Nov 10;41(1):320. PMID: 36352462] Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 2916)
  AUTHORS   Pu JL, Lin ZH, Zheng R, Yan YQ, Xue NJ, Yin XZ and Zhang BR.
  TITLE     Association analysis of SYT11, FGF20, GCH1 rare variants in
            Parkinson's disease
  JOURNAL   CNS Neurosci Ther 28 (1), 175-177 (2022)
   PUBMED   34674384
  REMARK    GeneRIF: Association analysis of SYT11, FGF20, GCH1 rare variants in
            Parkinson's disease.
REFERENCE   4  (bases 1 to 2916)
  AUTHORS   Khairallah A, Ross CJ and Tastan Bishop O.
  TITLE     GTP Cyclohydrolase I as a Potential Drug Target: New Insights into
            Its Allosteric Modulation via Normal Mode Analysis
  JOURNAL   J Chem Inf Model 61 (9), 4701-4719 (2021)
   PUBMED   34450011
  REMARK    GeneRIF: GTP Cyclohydrolase I as a Potential Drug Target: New
            Insights into Its Allosteric Modulation via Normal Mode Analysis.
REFERENCE   5  (bases 1 to 2916)
  AUTHORS   Furukawa,Y.
  TITLE     GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301681
REFERENCE   6  (bases 1 to 2916)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 2916)
  AUTHORS   Gutlich M, Schott K, Werner T, Bacher A and Ziegler I.
  TITLE     Species and tissue specificity of mammalian GTP cyclohydrolase I
            messenger RNA
  JOURNAL   Biochim Biophys Acta 1171 (2), 133-140 (1992)
   PUBMED   1482676
REFERENCE   8  (bases 1 to 2916)
  AUTHORS   Togari A, Ichinose H, Matsumoto S, Fujita K and Nagatsu T.
  TITLE     Multiple mRNA forms of human GTP cyclohydrolase I
  JOURNAL   Biochem Biophys Res Commun 187 (1), 359-365 (1992)
   PUBMED   1520321
REFERENCE   9  (bases 1 to 2916)
  AUTHORS   .
  TITLE     Argentinian corned beef
  JOURNAL   CDR (Lond Engl Wkly) 1 (24), 107 (1991)
   PUBMED   1669853
REFERENCE   10  (bases 1 to 2916)
  AUTHORS   Schoedon G, Redweik U and Curtius HC.
  TITLE     Purification of GTP cyclohydrolase I from human liver and production
            of specific monoclonal antibodies
  JOURNAL   Eur J Biochem 178 (3), 627-634 (1989)
   PUBMED   2463916
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC025415.2, U66097.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000491895.7/ ENSP00000419045.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL160471.5 and AL133444.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000161.2.
            Summary: This gene encodes a member of the GTP cyclohydrolase
            family. The encoded protein is the first and rate-limiting enzyme
            in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the
            conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an
            essential cofactor required by aromatic amino acid hydroxylases as
            well as nitric oxide synthases. Mutations in this gene are
            associated with malignant hyperphenylalaninemia and dopa-responsive
            dystonia. Several alternatively spliced transcript variants
            encoding different isoforms have been described; however, not all
            variants give rise to a functional enzyme. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (1), also known as Type I,
            represents the longest transcript. Variants 1 and 2 encode the
            longest isoform (1), which is the active enzyme.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2916
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.2"
     gene            1..2916
                     /gene="GCH1"
                     /gene_synonym="DYT14; DYT5; DYT5a; GCH; GTP-CH-1; GTPCH1;
                     HPABH4B"
                     /note="GTP cyclohydrolase 1"
                     /db_xref="GeneID:2643"
                     /db_xref="HGNC:HGNC:4193"
                     /db_xref="MIM:600225"
     misc_feature    29..31
                     /gene="GCH1"
                     /gene_synonym="DYT14; DYT5; DYT5a; GCH; GTP-CH-1; GTPCH1;
                     HPABH4B"
                     /note="upstream in-frame stop codon"
     CDS             164..916
                     /gene="GCH1"
                     /gene_synonym="DYT14; DYT5; DYT5a; GCH; GTP-CH-1; GTPCH1;
                     HPABH4B"
                     /EC_number="3.5.4.16"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dystonia 14; guanosine 5'-triphosphate cyclohydrolase I;
                     GTP-CH-I; GTP cyclohydrolase I"
                     /codon_start=1
                     /product="GTP cyclohydrolase 1 isoform 1"
                     /protein_id="NP_000152.1"
                     /db_xref="CCDS:CCDS9720.1"
                     /db_xref="GeneID:2643"
                     /db_xref="HGNC:HGNC:4193"
                     /db_xref="MIM:600225"
                     /translation="MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAK
                     SAQPADGWKGERPRSEEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAASAMQF
                     FTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVL
                     GLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPAGVGVVVEATHMCMVMRGVQKMN
                     SKTVTSTMLGVFREDPKTREEFLTLIRS"
     misc_feature    164..355
                     /gene="GCH1"
                     /gene_synonym="DYT14; DYT5; DYT5a; GCH; GTP-CH-1; GTPCH1;
                     HPABH4B"
                     /note="propagated from UniProtKB/Swiss-Prot (P30793.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    341..343
                     /gene="GCH1"
                     /gene_synonym="DYT14; DYT5; DYT5a; GCH; GTP-CH-1; GTPCH1;
                     HPABH4B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P30793.1); phosphorylation site"
     misc_feature    404..406
                     /gene="GCH1"
                     /gene_synonym="DYT14; DYT5; DYT5a; GCH; GTP-CH-1; GTPCH1;
                     HPABH4B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:17704208; propagated from
                     UniProtKB/Swiss-Prot (P30793.1); phosphorylation site"
     regulatory      2898..2903
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCH1"
                     /gene_synonym="DYT14; DYT5; DYT5a; GCH; GTP-CH-1; GTPCH1;
                     HPABH4B"
                     /note="hexamer: ATTAAA"
     polyA_site      2916
                     /gene="GCH1"
                     /gene_synonym="DYT14; DYT5; DYT5a; GCH; GTP-CH-1; GTPCH1;
                     HPABH4B"
                     /note="major polyA site"
ORIGIN
        1 agcctgtggc cgctcccggc tcggagtgtg atctaagcag gttgcgtacc ttcctcaggt
       61 gactccggcc acagcccatt gtccgcggcc accggcggag tttagccgca gacctcgaag
      121 cgccccgggg tccttcccga acggcagcgg ctgcggcggg tccatggaga agggccctgt
      181 gcgggcaccg gcggagaagc cgcggggcgc caggtgcagc aatgggttcc ccgagcggga
      241 tccgccgcgg cccgggccca gcaggccggc ggagaagccc ccgcggcccg aggccaagag
      301 cgcgcagccc gcggacggct ggaagggcga gcggccccgc agcgaggagg ataacgagct
      361 gaacctccct aacctggcag ccgcctactc gtccatcctg agctcgctgg gcgagaaccc
      421 ccagcggcaa gggctgctca agacgccctg gagggcggcc tcggccatgc agttcttcac
      481 caagggctac caggagacca tctcagatgt cctaaacgat gctatatttg atgaagatca
      541 tgatgagatg gtgattgtga aggacataga catgttttcc atgtgtgagc atcacttggt
      601 tccatttgtt ggaaaggtcc atattggtta tcttcctaac aagcaagtcc ttggcctcag
      661 caaacttgcg aggattgtag aaatctatag tagaagacta caagttcagg agcgccttac
      721 aaaacaaatt gctgtagcaa tcacggaagc cttgcggcct gctggagtcg gggtagtggt
      781 tgaagcaaca cacatgtgta tggtaatgcg aggtgtacag aaaatgaaca gcaaaactgt
      841 gaccagcaca atgttgggtg tgttccggga ggatccaaag actcgggaag agttcctgac
      901 tctcattagg agctgagctt cattcagtgt gtgtgcgttg gttgccgatc gtactgccag
      961 tagcattgtc tgtctgtccg gtcttgtttg tacattccat tttcaattgt tacagatgtg
     1021 aactttattc cttgtcacta attatattta aaattatttc taggaagtca aataaatata
     1081 ataaagggtt gagccctcta ctttcttctt gccacctttt tgtggcaata ttaaagtgaa
     1141 ctgctaatag tgtaagtacg tgcacaaaac cactgccaga taaccagagg ggcctgggaa
     1201 gggagaagaa ttagtgtatt tttttcaaat agtacagtaa tttgcctcat aagcatagga
     1261 gcattgggaa tgagagggaa ctgtgcccag tatactgttt tttttcttcc tccaataaaa
     1321 gtggtgtagt gccgaaagtg ctaaaatatt tagtgcggta ttgctctgtg aattcaagtt
     1381 caacagactt cactttggtc atgtttatta aaccaccagt gacatttaaa aatatatttt
     1441 tagcagtcgt aatgttagtc accaagggaa ggtggtggaa tgtctatgtt tttgatttta
     1501 ctgtgagtta aaaaggcaca tttctacctt ctattgtttt taaattcaag aatagggaat
     1561 tagttcctgg tgttgtttac gagtgtattc tcgtgtcaac atacagggat ttagacattt
     1621 aactctctgt gccttgataa gaatatcatt tagagtgtag atacttttgc ctttttaaaa
     1681 aagccattat tttatgagac ttagtactca cactgcaaat aactagtcag ctcagtttta
     1741 actttatagg tttattgagt ttcctttgtg tgatccatgt agatgcctca aaatgtttct
     1801 tcttcttctt ttttttaatc ttataagata tttttctaag tatttccaga aacatttgag
     1861 agtgcccatc attttcaggt ctgcagaacc atagcttcca cgcacctgaa cgagcacaga
     1921 atgaactgac ggtggaagac attatgagct gtgtccaacg ttttaaccaa agcgtatcgt
     1981 accaacgatc tgtgaaaatg cactggaagc ttctggtccc ggtttccttt gtggtctatg
     2041 tgggtcttgt cctcattgta actccgtata gatggtatag gtattttaat cctggaagct
     2101 gttgccttat taatgattat cttaaaattt cctccattgg ggcagcgtgg gccaaattaa
     2161 aacaaacaaa accgcaactc ctccacagaa acacaaacac agttattcca tgaagtttag
     2221 tatttggttg acatagtgct cttcaaattc atcccattac cctaaaagta ataactttga
     2281 tgcttgcttt aactttagtc ccatctctgc cactttgatg ctatttgggt tatgatgggg
     2341 caagatggca gaggtattgg gtttttttgt ttttttccat tcctctctac ttctgtttcc
     2401 tagctttttc tttctggagt ttaagtacag tgatggttgg cttgagtacc tttttaaatc
     2461 tagcccagta taaacattag cctgcttaat atttagacat ttataggtag aattctgagc
     2521 actcaactca tgtttggcat tttaaagtaa aaacaagtgt gacttcgagg accaaagaaa
     2581 ttgtcagcta tacatttatc tttatgaact catttatatt cctttttaat gactcgttgt
     2641 tctaacattt cctagaagtg ttcttataaa ggtctaatgt atccacaggc tgttgtctta
     2701 ttagtaaatg caaagtaatg actttgtctg ttttactcta gtctttagta cttcaaaatt
     2761 accttttcat atccatgatc ttgagtccat ttgggggatt tttaagaatt tgatgtattt
     2821 caatacactg ttcaaaatta aattgtttaa ttttatgtat gagtatgtat gttcctgaag
     2881 gtggtcctat ttaaattatt aaactattgt aacttt
//
LOCUS       NM_000162               2745 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens glucokinase (GCK), transcript variant 1, mRNA.
ACCESSION   NM_000162
VERSION     NM_000162.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2745)
  AUTHORS   Ren Q, Wang Z, Yang W, Han X and Ji L.
  TITLE     Maternal and Infant Outcomes in GCK-MODY Complicated by Pregnancy
  JOURNAL   J Clin Endocrinol Metab 108 (10), 2739-2746 (2023)
   PUBMED   37011183
  REMARK    GeneRIF: Maternal and Infant Outcomes in GCK-MODY Complicated by
            Pregnancy.
REFERENCE   2  (bases 1 to 2745)
  AUTHORS   Gersing S, Cagiada M, Gebbia M, Gjesing AP, Cote AG, Seesankar G, Li
            R, Tabet D, Weile J, Stein A, Gloyn AL, Hansen T, Roth FP,
            Lindorff-Larsen K and Hartmann-Petersen R.
  TITLE     A comprehensive map of human glucokinase variant activity
  JOURNAL   Genome Biol 24 (1), 97 (2023)
   PUBMED   37101203
  REMARK    GeneRIF: A comprehensive map of human glucokinase variant activity.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2745)
  AUTHORS   Xie Z, Xie T, Liu J, Zhang Q and Xiao X.
  TITLE     Glucokinase Inactivation Ameliorates Lipid Accumulation and Exerts
            Favorable Effects on Lipid Metabolism in Hepatocytes
  JOURNAL   Int J Mol Sci 24 (5), 4315 (2023)
   PUBMED   36901746
  REMARK    GeneRIF: Glucokinase Inactivation Ameliorates Lipid Accumulation and
            Exerts Favorable Effects on Lipid Metabolism in Hepatocytes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2745)
  AUTHORS   Llanos P, Ordenes P, Rhoads DB, Santibanez JF, Garcia-Robles M and
            Millan C.
  TITLE     BMAL1 Regulates Glucokinase Expression Through E-Box Elements In
            Vitro
  JOURNAL   Adv Exp Med Biol 1408, 235-249 (2023)
   PUBMED   37093431
  REMARK    GeneRIF: BMAL1 Regulates Glucokinase Expression Through E-Box
            Elements In Vitro.
REFERENCE   5  (bases 1 to 2745)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   29792621
REFERENCE   6  (bases 1 to 2745)
  AUTHORS   De Leon,D.D. and Stanley,C.A.
  TITLE     Permanent Neonatal Diabetes Mellitus
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301620
REFERENCE   7  (bases 1 to 2745)
  AUTHORS   Gillis,D.
  TITLE     Familial Hyperinsulinism
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301549
REFERENCE   8  (bases 1 to 2745)
  AUTHORS   Stoffel M, Patel P, Lo YM, Hattersley AT, Lucassen AM, Page R, Bell
            JI, Bell GI, Turner RC and Wainscoat JS.
  TITLE     Missense glucokinase mutation in maturity-onset diabetes of the
            young and mutation screening in late-onset diabetes
  JOURNAL   Nat Genet 2 (2), 153-156 (1992)
   PUBMED   1303265
REFERENCE   9  (bases 1 to 2745)
  AUTHORS   Tanizawa Y, Matsutani A, Chiu KC and Permutt MA.
  TITLE     Human glucokinase gene: isolation, structural characterization, and
            identification of a microsatellite repeat polymorphism
  JOURNAL   Mol Endocrinol 6 (7), 1070-1081 (1992)
   PUBMED   1354840
REFERENCE   10  (bases 1 to 2745)
  AUTHORS   Hattersley AT, Turner RC, Permutt MA, Patel P, Tanizawa Y, Chiu KC,
            O'Rahilly S, Watkins PJ and Wainscoat JS.
  TITLE     Linkage of type 2 diabetes to the glucokinase gene
  JOURNAL   Lancet 339 (8805), 1307-1310 (1992)
   PUBMED   1349989
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC001890.1, M88011.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000403799.8/ ENSP00000384247.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006454.4 and BC001890.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000162.4.
            Summary: This gene encodes a member of the hexokinase family of
            proteins. Hexokinases phosphorylate glucose to produce
            glucose-6-phosphate, the first step in most glucose metabolism
            pathways. In contrast to other forms of hexokinase, this enzyme is
            not inhibited by its product glucose-6-phosphate but remains active
            while glucose is abundant. The use of multiple promoters and
            alternative splicing of this gene result in distinct protein
            isoforms that exhibit tissue-specific expression in the pancreas
            and liver. In the pancreas, this enzyme plays a role in
            glucose-stimulated insulin secretion, while in the liver, this
            enzyme is important in glucose uptake and conversion to glycogen.
            Mutations in this gene that alter enzyme activity have been
            associated with multiple types of diabetes and hyperinsulinemic
            hypoglycemia. [provided by RefSeq, Aug 2017].
            Transcript Variant: This variant (1) encodes the isoform expressed
            specifically in pancreatic islet beta cells. Its first exon is
            specific to this variant, which has a unique 5' UTR. Isoform 1 has
            a distinct N-terminus; the remainder of the protein is identical to
            isoforms 2 and 3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2745
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p13"
     gene            1..2745
                     /gene="GCK"
                     /gene_synonym="FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP;
                     LGLK; MODY2; PNDM1"
                     /note="glucokinase"
                     /db_xref="GeneID:2645"
                     /db_xref="HGNC:HGNC:4195"
                     /db_xref="MIM:138079"
     misc_feature    391..393
                     /gene="GCK"
                     /gene_synonym="FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP;
                     LGLK; MODY2; PNDM1"
                     /note="upstream in-frame stop codon"
     CDS             487..1884
                     /gene="GCK"
                     /gene_synonym="FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP;
                     LGLK; MODY2; PNDM1"
                     /EC_number="2.7.1.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hexokinase D, pancreatic isozyme; ATP:D-hexose
                     6-phosphotransferase; HK IV; hexokinase type IV;
                     glucokinase (hexokinase 4)"
                     /codon_start=1
                     /product="hexokinase-4 isoform 1"
                     /protein_id="NP_000153.1"
                     /db_xref="CCDS:CCDS5479.1"
                     /db_xref="GeneID:2645"
                     /db_xref="HGNC:HGNC:4195"
                     /db_xref="MIM:138079"
                     /translation="MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGL
                     RLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLGGTNFRVMLVKVGEGEEGQWSVKTK
                     HQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDIDKGI
                     LLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEV
                     GMIVGTGCNACYMEEMQNVELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESS
                     ANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEASEQLRTRGAFETRFVSQVES
                     DTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSE
                     DVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACK
                     KACMLGQ"
     misc_feature    685..1095
                     /gene="GCK"
                     /gene_synonym="FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP;
                     LGLK; MODY2; PNDM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35557.1);
                     Region: Hexokinase small subdomain.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01084"
     misc_feature    1096..1815
                     /gene="GCK"
                     /gene_synonym="FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP;
                     LGLK; MODY2; PNDM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35557.1);
                     Region: Hexokinase large subdomain.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01084"
     regulatory      2722..2727
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCK"
                     /gene_synonym="FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP;
                     LGLK; MODY2; PNDM1"
                     /note="hexamer: ATTAAA"
     polyA_site      2745
                     /gene="GCK"
                     /gene_synonym="FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP;
                     LGLK; MODY2; PNDM1"
                     /note="major polyA site"
ORIGIN
        1 actccacacc tggctggagc aggaaatgcc gagcggcgcc tgagccccag ggaagcaggc
       61 taggatgtga gagacacagt cacctgcagc ctaattactc aaaagctgtc cccaggtcac
      121 agaagggaga ggacatttcc cactgaatct gtctgaagga cactaagccc cacagctcaa
      181 cacaaccagg agagaaagcg ctgaggacgc cacccaagcg cccagcaatg gccctgcctg
      241 gagaacatcc aggctcagtg aggaagggtc cagaagggaa tgcttgccga ctcgttggag
      301 aacaatgaaa aggaggaaac tgtgactgaa cctcaaaccc caaaccagcc cgaggagaac
      361 cacattctcc cagggaccca gggcgggccg tgacccctgc ggcggagaag ccttggatat
      421 ttccacttca gaagcctact ggggaaggct gaggggtccc agctccccac gctggctgct
      481 gtgcagatgc tggacgacag agccaggatg gaggccgcca agaaggagaa ggtagagcag
      541 atcctggcag agttccagct gcaggaggag gacctgaaga aggtgatgag acggatgcag
      601 aaggagatgg accgcggcct gaggctggag acccatgaag aggccagtgt gaagatgctg
      661 cccacctacg tgcgctccac cccagaaggc tcagaagtcg gggacttcct ctccctggac
      721 ctgggtggca ctaacttcag ggtgatgctg gtgaaggtgg gagaaggtga ggaggggcag
      781 tggagcgtga agaccaaaca ccagatgtac tccatccccg aggacgccat gaccggcact
      841 gctgagatgc tcttcgacta catctctgag tgcatctccg acttcctgga caagcatcag
      901 atgaaacaca agaagctgcc cctgggcttc accttctcct ttcctgtgag gcacgaagac
      961 atcgataagg gcatccttct caactggacc aagggcttca aggcctcagg agcagaaggg
     1021 aacaatgtcg tggggcttct gcgagacgct atcaaacgga gaggggactt tgaaatggat
     1081 gtggtggcaa tggtgaatga cacggtggcc acgatgatct cctgctacta cgaagaccat
     1141 cagtgcgagg tcggcatgat cgtgggcacg ggctgcaatg cctgctacat ggaggagatg
     1201 cagaatgtgg agctggtgga gggggacgag ggccgcatgt gcgtcaatac cgagtggggc
     1261 gccttcgggg actccggcga gctggacgag ttcctgctgg agtatgaccg cctggtggac
     1321 gagagctctg caaaccccgg tcagcagctg tatgagaagc tcataggtgg caagtacatg
     1381 ggcgagctgg tgcggcttgt gctgctcagg ctcgtggacg aaaacctgct cttccacggg
     1441 gaggcctccg agcagctgcg cacacgcgga gccttcgaga cgcgcttcgt gtcgcaggtg
     1501 gagagcgaca cgggcgaccg caagcagatc tacaacatcc tgagcacgct ggggctgcga
     1561 ccctcgacca ccgactgcga catcgtgcgc cgcgcctgcg agagcgtgtc tacgcgcgct
     1621 gcgcacatgt gctcggcggg gctggcgggc gtcatcaacc gcatgcgcga gagccgcagc
     1681 gaggacgtaa tgcgcatcac tgtgggcgtg gatggctccg tgtacaagct gcaccccagc
     1741 ttcaaggagc ggttccatgc cagcgtgcgc aggctgacgc ccagctgcga gatcaccttc
     1801 atcgagtcgg aggagggcag tggccggggc gcggccctgg tctcggcggt ggcctgtaag
     1861 aaggcctgta tgctgggcca gtgagagcag tggccgcaag cgcagggagg atgccacagc
     1921 cccacagcac ccaggctcca tggggaagtg ctccccacac gtgctcgcag cctggcgggg
     1981 caggaggcct ggccttgtca ggacccaggc cgcctgccat accgctgggg aacagagcgg
     2041 gcctcttccc tcagtttttc ggtgggacag ccccagggcc ctaacggggg tgcggcagga
     2101 gcaggaacag agactctgga agccccccac ctttctcgct ggaatcaatt tcccagaagg
     2161 gagttgctca ctcaggactt tgatgcattt ccacactgtc agagctgttg gcctcgcctg
     2221 ggcccaggct ctgggaaggg gtgccctctg gatcctgctg tggcctcact tccctgggaa
     2281 ctcatcctgt gtggggaggc agctccaaca gcttgaccag acctagacct gggccaaaag
     2341 ggcagccagg ggctgctcat cacccagtcc tggccatttt cttgcctgag gctcaagagg
     2401 cccagggagc aatgggaggg ggctccatgg aggaggtgtc ccaagctttg aataccccca
     2461 gagacctttt ctctcccata ccatcactga gtggcttgtg attctgggat ggaccctcgc
     2521 agcaggtgca agagacagag cccccaagcc tctgccccaa ggggcccaca aaggggagaa
     2581 gggccagccc tacatcttca gctcccatag cgctggctca ggaagaaacc ccaagcagca
     2641 ttcagcacac cccaagggac aaccccatca tatgacatgc caccctctcc atgcccaacc
     2701 taagattgtg tgggtttttt aattaaaaat gttaaaagtt ttaaa
//
LOCUS       NM_000163               4899 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens growth hormone receptor (GHR), transcript variant 1,
            mRNA.
ACCESSION   NM_000163
VERSION     NM_000163.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4899)
  AUTHORS   Unterberger CJ, McIlwain SJ, Tsourkas PK, Maklakova VI, Prince JL,
            Onesti A, Hu R, Kopchick JJ, Swanson SM and Marker PC.
  TITLE     Conditional gene regulation models demonstrate a pro-proliferative
            role for growth hormone receptor in prostate cancer
  JOURNAL   Prostate 83 (5), 416-429 (2023)
   PUBMED   36562110
  REMARK    GeneRIF: Conditional gene regulation models demonstrate a
            pro-proliferative role for growth hormone receptor in prostate
            cancer.
REFERENCE   2  (bases 1 to 4899)
  AUTHORS   Kempf E, Landgraf K, Vogel T, Spielau U, Stein R, Raschpichler M,
            Kratzsch J, Kiess W, Stanik J and Korner A.
  TITLE     Associations of GHR, IGF-1 and IGFBP-3 expression in adipose tissue
            cells with obesity-related alterations in corresponding circulating
            levels and adipose tissue function in children
  JOURNAL   Adipocyte 11 (1), 630-642 (2022)
   PUBMED   36384443
  REMARK    GeneRIF: Associations of GHR, IGF-1 and IGFBP-3 expression in
            adipose tissue cells with obesity-related alterations in
            corresponding circulating levels and adipose tissue function in
            children.
REFERENCE   3  (bases 1 to 4899)
  AUTHORS   Hua C and Yu D.
  TITLE     Correlation Study between Levels of Gastrin, Serum IGF-1, and GHBP
            and Growth and Development in Children with Short Stature Based on
            Big Data Analysis
  JOURNAL   Dis Markers 2022, 4614099 (2022)
   PUBMED   36061351
  REMARK    GeneRIF: Correlation Study between Levels of Gastrin, Serum IGF-1,
            and GHBP and Growth and Development in Children with Short Stature
            Based on Big Data Analysis. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4899)
  AUTHORS   Osganian SA, Subudhi S, Masia R, Drescher HK, Bartsch LM, Chicote
            ML, Chung RT, Gee DW, Witkowski ER, Bredella MA, Lauer GM, Corey KE
            and Dichtel LE.
  TITLE     Expression of IGF-1 receptor and GH receptor in hepatic tissue of
            patients with nonalcoholic fatty liver disease and nonalcoholic
            steatohepatitis
  JOURNAL   Growth Horm IGF Res 65, 101482 (2022)
   PUBMED   35780715
  REMARK    GeneRIF: Expression of IGF-1 receptor and GH receptor in hepatic
            tissue of patients with nonalcoholic fatty liver disease and
            nonalcoholic steatohepatitis.
REFERENCE   5  (bases 1 to 4899)
  AUTHORS   Park HJ, Ahn SJ, Jang J, Kim SJ, Park YG and Kim KA.
  TITLE     Genetic effect of single nucleotide polymorphisms in growth hormone
            receptor gene on the risk of non-syndromic mandibular prognathism in
            the Korean population
  JOURNAL   Orthod Craniofac Res 25 (3), 437-446 (2022)
   PUBMED   34863024
  REMARK    GeneRIF: Genetic effect of single nucleotide polymorphisms in growth
            hormone receptor gene on the risk of non-syndromic mandibular
            prognathism in the Korean population.
REFERENCE   6  (bases 1 to 4899)
  AUTHORS   Pekhletsky RI, Chernov BK and Rubtsov PM.
  TITLE     Variants of the 5'-untranslated sequence of human growth hormone
            receptor mRNA
  JOURNAL   Mol Cell Endocrinol 90 (1), 103-109 (1992)
   PUBMED   1301391
REFERENCE   7  (bases 1 to 4899)
  AUTHORS   Urbanek M, MacLeod JN, Cooke NE and Liebhaber SA.
  TITLE     Expression of a human growth hormone (hGH) receptor isoform is
            predicted by tissue-specific alternative splicing of exon 3 of the
            hGH receptor gene transcript
  JOURNAL   Mol Endocrinol 6 (2), 279-287 (1992)
   PUBMED   1569971
REFERENCE   8  (bases 1 to 4899)
  AUTHORS   de Vos AM, Ultsch M and Kossiakoff AA.
  TITLE     Human growth hormone and extracellular domain of its receptor:
            crystal structure of the complex
  JOURNAL   Science 255 (5042), 306-312 (1992)
   PUBMED   1549776
REFERENCE   9  (bases 1 to 4899)
  AUTHORS   Berg MA, Guevara-Aguirre J, Rosenbloom AL, Rosenfeld RG and Francke
            U.
  TITLE     Mutation creating a new splice site in the growth hormone receptor
            genes of 37 Ecuadorean patients with Laron syndrome
  JOURNAL   Hum Mutat 1 (1), 24-32 (1992)
   PUBMED   1284474
REFERENCE   10  (bases 1 to 4899)
  AUTHORS   Baumann G, Davila N, Shaw MA, Ray J, Liebhaber SA and Cooke NE.
  TITLE     Binding of human growth hormone (GH)-variant (placental GH) to
            GH-binding proteins in human plasma
  JOURNAL   J Clin Endocrinol Metab 73 (6), 1175-1179 (1991)
   PUBMED   1955498
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X06562.1, DRR138522.962219.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000230882.9/ ENSP00000230882.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC116343.2, Z11801.1, X06562.1
            and AC113368.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000163.4.
            Summary: This gene encodes a member of the type I cytokine receptor
            family, which is a transmembrane receptor for growth hormone.
            Binding of growth hormone to the receptor leads to receptor
            dimerization and the activation of an intra- and intercellular
            signal transduction pathway leading to growth. Mutations in this
            gene have been associated with Laron syndrome, also known as the
            growth hormone insensitivity syndrome (GHIS), a disorder
            characterized by short stature. In humans and rabbits, but not
            rodents, growth hormone binding protein (GHBP) is generated by
            proteolytic cleavage of the extracellular ligand-binding domain
            from the mature growth hormone receptor protein. Multiple
            alternatively spliced transcript variants have been found for this
            gene.[provided by RefSeq, Jun 2011].
            Transcript Variant: This variant (1, also known as V2) and variants
            3 through 9 encode the predominant protein (isoform 1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4899
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.1-p12"
     gene            1..4899
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="growth hormone receptor"
                     /db_xref="GeneID:2690"
                     /db_xref="HGNC:HGNC:4263"
                     /db_xref="MIM:600946"
     misc_feature    496..498
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="upstream in-frame stop codon"
     CDS             529..2445
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; growth hormone binding protein; somatotropin receptor;
                     serum binding protein; GH receptor; mutant growth hormone
                     receptor"
                     /codon_start=1
                     /product="growth hormone receptor isoform 1 precursor"
                     /protein_id="NP_000154.1"
                     /db_xref="CCDS:CCDS3940.1"
                     /db_xref="GeneID:2690"
                     /db_xref="HGNC:HGNC:4263"
                     /db_xref="MIM:600946"
                     /translation="MDLWQLLLTLALAGSSDAFSGSEATAAILSRAPWSLQSVNPGLKT
                     NSSKEPKFTKCRSPERETFSCHWTDEVHHGTKNLGPIQLFYTRRNTQEWTQEWKECPDY
                     VSAGENSCYFNSSFTSIWIPYCIKLTSNGGTVDEKCFSVDEIVQPDPPIALNWTLLNVS
                     LTGIHADIQVRWEAPRNADIQKGWMVLEYELQYKEVNETKWKMMDPILTTSVPVYSLKV
                     DKEYEVRVRSKQRNSGNYGEFSEVLYVTLPQMSQFTCEEDFYFPWLLIIIFGIFGLTVM
                     LFVFLFSKQQRIKMLILPPVPVPKIKGIDPDLLKEGKLEEVNTILAIHDSYKPEFHSDD
                     SWVEFIELDIDEPDEKTEESDTDRLLSSDHEKSHSNLGVKDGDSGRTSCCEPDILETDF
                     NANDIHEGTSEVAQPQRLKGEADLLCLDQKNQNNSPYHDACPATQQPSVIQAEKNKPQP
                     LPTEGAESTHQAAHIQLSNPSSLSNIDFYAQVSDITPAGSVVLSPGQKNKAGMSQCDMH
                     PEMVSLCQENFLMDNAYFCEADAKKCIPVAPHIKVESHIQPSLNQEDIYITTESLTTAA
                     GRPGTGEHVPGSEMPVPDYTSIHIVQSPQGLILNATALPLPDKEFLSSCGYVSTDQLNK
                     IMP"
     sig_peptide     529..582
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     583..2442
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /product="Growth hormone receptor. /id=PRO_0000010957"
                     /note="propagated from UniProtKB/Swiss-Prot (P10912.1)"
     mat_peptide     583..1296
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /product="Growth hormone-binding protein.
                     /evidence=ECO:0000250. /id=PRO_0000010958"
                     /note="propagated from UniProtKB/Swiss-Prot (P10912.1)"
     misc_feature    664..666
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P10912.1); glycosylation site"
     misc_feature    871..873
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P10912.1); glycosylation site"
     misc_feature    994..996
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P10912.1); glycosylation site"
     misc_feature    1009..1011
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P10912.1); glycosylation site"
     misc_feature    1126..1128
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P10912.1); glycosylation site"
     misc_feature    1246..1260
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="propagated from UniProtKB/Swiss-Prot (P10912.1);
                     Region: WSXWS motif"
     misc_feature    1306..1314
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="propagated from UniProtKB/Swiss-Prot (P10912.1);
                     Region: Required for ADAM17-mediated proteolysis.
                     /evidence=ECO:0000250"
     misc_feature    1321..1392
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="propagated from UniProtKB/Swiss-Prot (P10912.1);
                     transmembrane region"
     misc_feature    1417..1443
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="propagated from UniProtKB/Swiss-Prot (P10912.1);
                     Region: Box 1 motif"
     misc_feature    1546..1575
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="propagated from UniProtKB/Swiss-Prot (P10912.1);
                     Region: UbE motif"
     misc_feature    1549..1551
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P10912.1); phosphorylation site"
     misc_feature    1561..1563
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="Required for endocytosis and down-regulation.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P10912.1); other site"
     misc_feature    1585..1701
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="propagated from UniProtKB/Swiss-Prot (P10912.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4826..4831
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="hexamer: AATAAA"
     polyA_site      4845
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="major polyA site"
     regulatory      4880..4885
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
                     /note="hexamer: CATAAA"
     polyA_site      4899
                     /gene="GHR"
                     /gene_synonym="GHBP; GHIP"
ORIGIN
        1 agttgagagt gacacgcacc aactccagct cctcgccggg aagacttcat cccagcaact
       61 cggaatgctt ggcccgggcg gcactcggcc tctccgcagc agttctcgaa ctggcctcct
      121 tgaacgtccg cttcgccttc gcttctgcaa cctggatctg ggggactgcg ggccaggcgc
      181 ggcgtgaccc ctggtgaacg gtggccgcct tttcccaccc ctgccctccc atcctccctt
      241 cccgtttcac cccgccccct ctctcctccc caagcctgac agcccgcgag ctgccaagca
      301 gggcgcagcc atgggaagag gaggagggct agggagcggc ggcggcggcg gcagcggcag
      361 cagcagctgc tacagtggcg gtggcggcgg cggctgctgc tgagcccggg cggcggcggg
      421 gaccccgggc tggggccacg cgggccggag gccccggcac cattggcccc agcgcagacg
      481 cgaacccgcg ctctctgatc agaggcgaag ctcggaggtc ctacaggtat ggatctctgg
      541 cagctgctgt tgaccttggc actggcagga tcaagtgatg ctttttctgg aagtgaggcc
      601 acagcagcta tccttagcag agcaccctgg agtctgcaaa gtgttaatcc aggcctaaag
      661 acaaattctt ctaaggagcc taaattcacc aagtgccgtt cacctgagcg agagactttt
      721 tcatgccact ggacagatga ggttcatcat ggtacaaaga acctaggacc catacagctg
      781 ttctatacca gaaggaacac tcaagaatgg actcaagaat ggaaagaatg ccctgattat
      841 gtttctgctg gggaaaacag ctgttacttt aattcatcgt ttacctccat ctggatacct
      901 tattgtatca agctaactag caatggtggt acagtggatg aaaagtgttt ctctgttgat
      961 gaaatagtgc aaccagatcc acccattgcc ctcaactgga ctttactgaa cgtcagttta
     1021 actgggattc atgcagatat ccaagtgaga tgggaagcac cacgcaatgc agatattcag
     1081 aaaggatgga tggttctgga gtatgaactt caatacaaag aagtaaatga aactaaatgg
     1141 aaaatgatgg accctatatt gacaacatca gttccagtgt actcattgaa agtggataag
     1201 gaatatgaag tgcgtgtgag atccaaacaa cgaaactctg gaaattatgg cgagttcagt
     1261 gaggtgctct atgtaacact tcctcagatg agccaattta catgtgaaga agatttctac
     1321 tttccatggc tcttaattat tatctttgga atatttgggc taacagtgat gctatttgta
     1381 ttcttatttt ctaaacagca aaggattaaa atgctgattc tgcccccagt tccagttcca
     1441 aagattaaag gaatcgatcc agatctcctc aaggaaggaa aattagagga ggtgaacaca
     1501 atcttagcca ttcatgatag ctataaaccc gaattccaca gtgatgactc ttgggttgaa
     1561 tttattgagc tagatattga tgagccagat gaaaagactg aggaatcaga cacagacaga
     1621 cttctaagca gtgaccatga gaaatcacat agtaacctag gggtgaagga tggcgactct
     1681 ggacgtacca gctgttgtga acctgacatt ctggagactg atttcaatgc caatgacata
     1741 catgagggta cctcagaggt tgctcagcca cagaggttaa aaggggaagc agatctctta
     1801 tgccttgacc agaagaatca aaataactca ccttatcatg atgcttgccc tgctactcag
     1861 cagcccagtg ttatccaagc agagaaaaac aaaccacaac cacttcctac tgaaggagct
     1921 gagtcaactc accaagctgc ccatattcag ctaagcaatc caagttcact gtcaaacatc
     1981 gacttttatg cccaggtgag cgacattaca ccagcaggta gtgtggtcct ttccccgggc
     2041 caaaagaata aggcagggat gtcccaatgt gacatgcacc cggaaatggt ctcactctgc
     2101 caagaaaact tccttatgga caatgcctac ttctgtgagg cagatgccaa aaagtgcatc
     2161 cctgtggctc ctcacatcaa ggttgaatca cacatacagc caagcttaaa ccaagaggac
     2221 atttacatca ccacagaaag ccttaccact gctgctggga ggcctgggac aggagaacat
     2281 gttccaggtt ctgagatgcc tgtcccagac tatacctcca ttcatatagt acagtcccca
     2341 cagggcctca tactcaatgc gactgccttg cccttgcctg acaaagagtt tctctcatca
     2401 tgtggctatg tgagcacaga ccaactgaac aaaatcatgc cttagccttt ctttggtttc
     2461 ccaagagcta cgtatttaat agcaaagaat tgactggggc aataacgttt aagccaaaac
     2521 aatgtttaaa ccttttttgg gggagtgaca ggatggggta tggattctaa aatgcctttt
     2581 cccaaaatgt tgaaatatga tgttaaaaaa ataagaagaa tgcttaatca gatagatatt
     2641 cctattgtgc aatgtaaata ttttaaagaa ttgtgtcaga ctgtttagta gcagtgattg
     2701 tcttaatatt gtgggtgtta atttttgata ctaagcattg aatggctatg tttttaatgt
     2761 atagtaaatc acgctttttg aaaaagcgaa aaaatcaggt ggcttttgcg gttcaggaaa
     2821 attgaatgca aaccatagca caggctaatt ttttgttgtt tcttaaataa gaaacttttt
     2881 tatttaaaaa actaaaaact agaggtgaga aatttaaact ataagcaaga aggcaaaaat
     2941 agtttggata tgtaaaacat ttattttgac ataaagttga taaagatttt ttaataattt
     3001 agacttcaag catggctatt ttatattaca ctacacactg tgtactgcag ttggtatgac
     3061 ccctctaagg agtgtagcaa ctacagtcta aagctggttt aatgttttgg ccaatgcacc
     3121 taaagaaaaa caaactcgtt ttttacaaag cccttttata cctccccaga ctccttcaac
     3181 aattctaaaa tgattgtagt aatctgcatt attggaatat aattgtttta tctgaatttt
     3241 taaacaagta tttgttaatt tagaaaactt taaagcgttt gcacagatca acttaccagg
     3301 caccaaaaga agtaaaagca aaaaagaaaa cctttcttca ccaaatcttg gttgatgcca
     3361 aaaaaaaata catgctaaga gaagtagaaa tcatagctgg ttcacactga ccaagatact
     3421 taagtgctgc aattgcacgc ggagtgagtt ttttagtgcg tgcagatggt gagagataag
     3481 atctatagcc tctgcagcgg aatctgttca cacccaactt ggttttgcta cataattatc
     3541 caggaaggga ataaggtaca agaagcattt tgtaagttga agcaaatcga atgaaattaa
     3601 ctgggtaatg aaacaaagag ttcaagaaat aagtttttgt ttcacagcct ataaccagac
     3661 acatactcat ttttcatgat aatgaacaga acatagacag aagaaacaag gttttcagtc
     3721 cccacagata actgaaaatt atttaaaccg ctaaaagaaa ctttctttct cactaaatct
     3781 tttataggat ttatttaaaa tagcaaaaga agaagtttca tcatttttta cttcctctct
     3841 gagtggactg gcctcaaagc aagcattcag aagaaaaaga agcaacctca gtaatttaga
     3901 aatcattttg caatccctta atatcctaaa catcattcat ttttgttgtt gttgttgttg
     3961 ttgagacaga gtctcgctct gtcgccaggc tagagtgcgg tggcgcgatc ttgactcact
     4021 gcaatctcca cctcccacag gttcaggcga ttcccgtgcc tcagcctcct gagtagctgg
     4081 gactacaggc acgcaccacc atgccaggct aatttttttg tattttagca gagacggggt
     4141 ttcaccatgt tggccaggat ggtctcgatc tcctgacctc gtgatccacc cgactcggcc
     4201 tcccaaagtg ctgggattac aggtgtaagc caccgtgccc agccctaaac atcattcttg
     4261 agagcattgg gatatctcct gaaaaggttt atgaaaaaga agaatctcat ctcagtgaag
     4321 aatacttctc attttttaaa aaagcttaaa actttgaagt tagctttaac ttaaatagta
     4381 tttcccattt atcgcagacc ttttttagga agcaagctta atggctgata attttaaatt
     4441 ctctctcttg caggaaggac tatgaaaagc tagaattgag tgtttaaagt tcaacatgtt
     4501 atttgtaata gatgtttgat agattttctg ctactttgct gctatggttt tctccaagag
     4561 ctacataatt tagtttcata taaagtatca tcagtgtaga acctaattca attcaaagct
     4621 gtgtgtttgg aagactatct tactatttca caacagcctg acaacatttc tatagccaaa
     4681 aatagctaaa tacctcaatc agtctcagaa tgtcattttg gtactttggt ggccacataa
     4741 gccattattc actagtatga ctagttgtgt ctggcagttt atatttaact ctctttatgt
     4801 ctgtggattt tttccttcaa agtttaataa atttattttc ttggattcct gatagtgtgc
     4861 ttctgttatc aaacaccaac ataaaaatga tctaaacca
//
LOCUS       NM_000164               3310 bp    mRNA    linear   PRI 26-JUN-2023
DEFINITION  Homo sapiens gastric inhibitory polypeptide receptor (GIPR),
            transcript variant 1, mRNA.
ACCESSION   NM_000164
VERSION     NM_000164.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3310)
  AUTHORS   Dalle Nogare M, D'Annunzio S, Vazza G, Regazzo D, Picello L, Denaro
            L, Voltan G, Scaroni C, Ceccato F and Occhi G.
  TITLE     The Methylation Analysis of the Glucose-Dependent Insulinotropic
            Polypeptide Receptor (GIPR) Locus in GH-Secreting Pituitary Adenomas
  JOURNAL   Int J Mol Sci 24 (11), 9264 (2023)
   PUBMED   37298217
  REMARK    GeneRIF: The Methylation Analysis of the Glucose-Dependent
            Insulinotropic Polypeptide Receptor (GIPR) Locus in GH-Secreting
            Pituitary Adenomas. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3310)
  AUTHORS   Manchanda Y, Bitsi S, Chen S, Broichhagen J, Bernardino de la Serna
            J, Jones B and Tomas A.
  TITLE     Enhanced Endosomal Signaling and Desensitization of GLP-1R vs GIPR
            in Pancreatic Beta Cells
  JOURNAL   Endocrinology 164 (5) (2023)
   PUBMED   36774542
  REMARK    GeneRIF: Enhanced Endosomal Signaling and Desensitization of GLP-1R
            vs GIPR in Pancreatic Beta Cells.
REFERENCE   3  (bases 1 to 3310)
  AUTHORS   Erfanian S, Mir H, Abdoli A and Roustazadeh A.
  TITLE     Association of gastric inhibitory polypeptide receptor (GIPR) gene
            polymorphism with type 2 diabetes mellitus in iranian patients
  JOURNAL   BMC Med Genomics 16 (1), 44 (2023)
   PUBMED   36882778
  REMARK    GeneRIF: Association of gastric inhibitory polypeptide receptor
            (GIPR) gene polymorphism with type 2 diabetes mellitus in iranian
            patients. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3310)
  AUTHORS   Al-Zaid B, Chacko S, Ezeamuzie CI, Bunemann M, Krasel C, Karimian T,
            Lanzerstorfer P and Al-Sabah S.
  TITLE     Differential effects of glucose-dependent insulinotropic polypeptide
            receptor/glucagon-like peptide-1 receptor heteromerization on cell
            signaling when expressed in HEK-293 cells
  JOURNAL   Pharmacol Res Perspect 10 (5), e01013 (2022)
   PUBMED   36177761
  REMARK    GeneRIF: Differential effects of glucose-dependent insulinotropic
            polypeptide receptor/glucagon-like peptide-1 receptor
            heteromerization on cell signaling when expressed in HEK-293 cells.
REFERENCE   5  (bases 1 to 3310)
  AUTHORS   Michalowska J, Miller-Kasprzak E, Seraszek-Jaros A, Mostowska A and
            Bogdanski P.
  TITLE     The Link between Three Single Nucleotide Variants of the GIPR Gene
            and Metabolic Health
  JOURNAL   Genes (Basel) 13 (9), 1534 (2022)
   PUBMED   36140702
  REMARK    GeneRIF: The Link between Three Single Nucleotide Variants of the
            GIPR Gene and Metabolic Health. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3310)
  AUTHORS   Yamada Y, Hayami T, Nakamura K, Kaisaki PJ, Someya Y, Wang CZ, Seino
            S and Seino Y.
  TITLE     Human gastric inhibitory polypeptide receptor: cloning of the gene
            (GIPR) and cDNA
  JOURNAL   Genomics 29 (3), 773-776 (1995)
   PUBMED   8575774
REFERENCE   7  (bases 1 to 3310)
  AUTHORS   Volz A, Goke R, Lankat-Buttgereit B, Fehmann HC, Bode HP and Goke B.
  TITLE     Molecular cloning, functional expression, and signal transduction of
            the GIP-receptor cloned from a human insulinoma
  JOURNAL   FEBS Lett 373 (1), 23-29 (1995)
   PUBMED   7589426
  REMARK    Erratum:[FEBS Lett 1996 Mar 4;381(3):271]
REFERENCE   8  (bases 1 to 3310)
  AUTHORS   Gremlich S, Porret A, Hani EH, Cherif D, Vionnet N, Froguel P and
            Thorens B.
  TITLE     Cloning, functional expression, and chromosomal localization of the
            human pancreatic islet glucose-dependent insulinotropic polypeptide
            receptor
  JOURNAL   Diabetes 44 (10), 1202-1208 (1995)
   PUBMED   7556958
REFERENCE   9  (bases 1 to 3310)
  AUTHORS   Stoffel M, Fernald AA, Le Beau MM and Bell GI.
  TITLE     Assignment of the gastric inhibitory polypeptide receptor gene
            (GIPR) to chromosome bands 19q13.2-q13.3 by fluorescence in situ
            hybridization
  JOURNAL   Genomics 28 (3), 607-609 (1995)
   PUBMED   7490109
REFERENCE   10  (bases 1 to 3310)
  AUTHORS   Usdin TB, Mezey E, Button DC, Brownstein MJ and Bonner TI.
  TITLE     Gastric inhibitory polypeptide receptor, a member of the
            secretin-vasoactive intestinal peptide receptor family, is widely
            distributed in peripheral organs and the brain
  JOURNAL   Endocrinology 133 (6), 2861-2870 (1993)
   PUBMED   8243312
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U39231.1, S79852.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142348,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000590918.6/ ENSP00000467494.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006132.1, U39231.1, AC007191.1, BU784011.1 and BM129443.1.
            On Nov 23, 2018 this sequence version replaced NM_000164.3.
            Summary: This gene encodes a G-protein coupled receptor for gastric
            inhibitory polypeptide (GIP), which was originally identified as an
            activity in gut extracts that inhibited gastric acid secretion and
            gastrin release, but subsequently was demonstrated to stimulate
            insulin release in the presence of elevated glucose. Mice lacking
            this gene exhibit higher blood glucose levels with impaired initial
            insulin response after oral glucose load. Defect in this gene thus
            may contribute to the pathogenesis of diabetes. [provided by
            RefSeq, Oct 2011].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3310
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..3310
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /note="gastric inhibitory polypeptide receptor"
                     /db_xref="GeneID:2696"
                     /db_xref="HGNC:HGNC:4271"
                     /db_xref="MIM:137241"
     misc_feature    54..56
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /note="upstream in-frame stop codon"
     CDS             123..1523
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; GIP-R; glucose-dependent insulinotropic polypeptide
                     receptor"
                     /codon_start=1
                     /product="gastric inhibitory polypeptide receptor isoform 1
                     precursor"
                     /protein_id="NP_000155.1"
                     /db_xref="CCDS:CCDS12671.1"
                     /db_xref="GeneID:2696"
                     /db_xref="HGNC:HGNC:4271"
                     /db_xref="MIM:137241"
                     /translation="MTTSPILQLLLRLSLCGLLLQRAETGSKGQTAGELYQRWERYRRE
                     CQETLAAAEPPSGLACNGSFDMYVCWDYAAPNATARASCPWYLPWHHHVAAGFVLRQCG
                     SDGQWGLWRDHTQCENPEKNEAFLDQRLILERLQVMYTVGYSLSLATLLLALLILSLFR
                     RLHCTRNYIHINLFTSFMLRAAAILSRDRLLPRPGPYLGDQALALWNQALAACRTAQIV
                     TQYCVGANYTWLLVEGVYLHSLLVLVGGSEEGHFRYYLLLGWGAPALFVIPWVIVRYLY
                     ENTQCWERNEVKAIWWIIRTPILMTILINFLIFIRILGILLSKLRTRQMRCRDYRLRLA
                     RSTLTLVPLLGVHEVVFAPVTEEQARGALRFAKLGFEIFLSSFQGFLVSVLYCFINKEV
                     QSEIRRGWHHCRLRRSLGEEQRQLPERAFRALPSGSGPGEVPTSRGLSSGTLPGPGNEA
                     SRELESYC"
     sig_peptide     123..197
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    306..308
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22412906; propagated from
                     UniProtKB/Swiss-Prot (P48546.1); glycosylation site"
     misc_feature    351..353
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22412906; propagated from
                     UniProtKB/Swiss-Prot (P48546.1); glycosylation site"
     misc_feature    537..605
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P48546.1);
                     transmembrane region"
     misc_feature    630..689
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P48546.1);
                     transmembrane region"
     misc_feature    774..848
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P48546.1);
                     transmembrane region"
     misc_feature    885..956
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P48546.1);
                     transmembrane region"
     misc_feature    1002..1079
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P48546.1);
                     transmembrane region"
     misc_feature    1146..1208
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P48546.1);
                     transmembrane region"
     misc_feature    1254..1316
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P48546.1);
                     transmembrane region"
     misc_feature    1401..1520
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P48546.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3290..3295
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /note="hexamer: AATAAA"
     polyA_site      3310
                     /gene="GIPR"
                     /gene_synonym="PGQTL2"
                     /note="major polyA site"
ORIGIN
        1 agagccgaga caaggcagtt ggaggcagcg gtggcagggg ctgcaggagc aagtgaccag
       61 gagcaggact ggggacaggc ctgatcgccc ctgcacgaac cagacccttc gccgccctca
      121 cgatgactac ctctccgatc ctgcagctgc tgctgcggct ctcactgtgc gggctgctgc
      181 tccagagggc ggagacaggc tctaaggggc agacggcggg ggagctgtac cagcgctggg
      241 aacggtaccg cagggagtgc caggagacct tggcagccgc ggaaccgcct tcaggcctcg
      301 cctgtaacgg gtccttcgat atgtacgtct gctgggacta tgctgcaccc aatgccactg
      361 cccgtgcgtc ctgcccctgg tacctgccct ggcaccacca tgtggctgca ggtttcgtcc
      421 tccgccagtg tggcagtgat ggccaatggg gactttggag agaccataca caatgtgaga
      481 acccagagaa gaatgaggcc tttctggacc aaaggctcat cttggagcgg ttgcaggtca
      541 tgtacactgt cggctactcc ctgtctctcg ccacactgct gctagccctg ctcatcttga
      601 gtttgttcag gcggctacat tgcactagaa actatatcca catcaacctg ttcacgtctt
      661 tcatgctgcg agctgcggcc attctcagcc gagaccgtct gctacctcga cctggcccct
      721 accttgggga ccaggccctt gcgctgtgga accaggccct cgctgcctgc cgcacggccc
      781 agatcgtgac ccagtactgc gtgggtgcca actacacgtg gctgctggtg gagggcgtct
      841 acctgcacag tctcctggtg ctcgtgggag gctccgagga gggccacttc cgctactacc
      901 tgctcctcgg ctggggggcc cccgcgcttt tcgtcattcc ctgggtgatc gtcaggtacc
      961 tgtacgagaa cacgcagtgc tgggagcgca acgaagtcaa ggccatttgg tggattatac
     1021 ggacccccat cctcatgacc atcttgatta atttcctcat ttttatccgc attcttggca
     1081 ttctcctgtc caagctgagg acacggcaaa tgcgctgccg ggattaccgg ctgaggctgg
     1141 ctcgctccac gctgacgctg gtgcccctgc tgggtgtcca cgaggtggtg tttgctcccg
     1201 tgacagagga acaggcccgg ggcgccctgc gcttcgccaa gctcggcttt gagatcttcc
     1261 tcagctcctt ccagggcttc ctggtcagcg tcctctactg cttcatcaac aaggaggtgc
     1321 agtcggagat ccgccgtggc tggcaccact gccgcctgcg ccgcagcctg ggcgaggagc
     1381 aacgccagct cccggagcgc gccttccggg ccctgccctc cggctccggc ccgggcgagg
     1441 tccccaccag ccgcggcttg tcctcgggga ccctcccagg gcctgggaat gaggccagcc
     1501 gggagttgga aagttactgc tagggggcgg gatccccgtg tctgttcagt tagcatggat
     1561 ttattgagtg ccaactgcgt gccaggccca gtacggagga cgctggggaa atggtgaagg
     1621 aaacagaaaa aaggtccctg cccttctgga gatgacaact gagtggggaa aacagaccgt
     1681 gaacacaaaa catcaagttc cacacacgct atggaatggt tatgaaggga agcgagaagg
     1741 gggcctaggg tggtctggga ggcgtctcca aggaggtgac acttaagcca tccccgaaag
     1801 aggtgaaaga gatcactttg gggagagctg gagaacagga ttctaggcgg aagcgatagc
     1861 ataggcaaag gcccttgggc aggaaggcgc tcagccttgg ctggagtaga attaagtcag
     1921 agccaacagg tggggagaga cagagaagtg ggcaggggca cccaagttgg gatttcattt
     1981 caggtgcatt ggagattctt aggagtgtct cttgggggta atattttatt ttttaaaaaa
     2041 tgaggatgtc actcttaccc aggttggtct tgaactcctg ggctcaagca atcctcccac
     2101 cacgggtctc tcaaagtgct gggattacag gcgtgagcca ccgcacccgg cttttttttt
     2161 tttttttaaa cggagtctca ctctgtcacc caggctggag tgcagtggtg caatttcagc
     2221 tcactgcacc ctccacctcc cgagttcaag cctcccgggt agctgggatt acaggcaccg
     2281 ccaccatgcc tggctaattt ttgcattttc agtagagata gggtttctcc atgttggcca
     2341 ggctggtctc gaactcctga cctcaagtga tccacccacc tcagcctccc aaagtgctgg
     2401 gattacaggc ataagccacc atgcccggcc caaatgggct aatgttttaa acagatcctt
     2461 cttgtctgcc ctgtaggagg acaaattatc aggggcaggg gtggaagctg gagcccagaa
     2521 aggaggggac tgcaggtggg aagtgatggt ggctggacca ggatggaggc cactgagggg
     2581 tatgaagcag tcggatttga agctgtttaa aaggtggagg tgagaggatt tcatgaagga
     2641 gcacatgagg acacagcagc agagaggact ccttggcttt ggatggtgga gagactaaag
     2701 atagagagat tgggttcggg tagggggaga accacgtgtg ctctttggaa aggttaggct
     2761 ggcagtgttt gtaggacatg acaggacact gagtgtaagg gtctggagct ctcaggagag
     2821 gggcgagctg gagatagtaa tgtgagaggc actgggtcct gagagggtga tttggtgtgg
     2881 accggagcac aggtgaggca aggcaggcct cgcagctgaa actttatatc cagagcagcc
     2941 agggccactg ctggctgcgg agtgaggacg catatcccca ctgtccttag atgggtggcc
     3001 cctggaacct gggagaatga gggggcatgc tgacagtctc attgtggctg gaccacctgt
     3061 acatacaccc acaagaccct cacccctaaa tcctccccct acacatatgc acacttaagt
     3121 taccgtatgg gtgttgtcga gcattttccc tggggtctgt ggctccctgg accgacatgc
     3181 cccaaagctg aactcagcct tttcaagctt gcggccctgc tgcccaattc ccctacaccc
     3241 tgccttgtgg gttctcgcgg ggtgggggcc ttagggcaag gctcttgtaa ataaagtata
     3301 agaaacagtt
//
LOCUS       NM_000165               3083 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens gap junction protein alpha 1 (GJA1), mRNA.
ACCESSION   NM_000165
VERSION     NM_000165.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3083)
  AUTHORS   Maciunas K, Snipas M, Kraujalis T, Kraujaliene L and Panfilov AV.
  TITLE     The role of the Cx43/Cx45 gap junction voltage gating on wave
            propagation and arrhythmogenic activity in cardiac tissue
  JOURNAL   Sci Rep 13 (1), 14863 (2023)
   PUBMED   37684404
  REMARK    GeneRIF: The role of the Cx43/Cx45 gap junction voltage gating on
            wave propagation and arrhythmogenic activity in cardiac tissue.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3083)
  AUTHORS   Costa E, Thrasivoulou C, Becker DL, Deprest JA, David AL and
            Chowdhury TT.
  TITLE     Cx43 regulates mechanotransduction mechanisms in human preterm
            amniotic membrane defects
  JOURNAL   Prenat Diagn 43 (10), 1284-1295 (2023)
   PUBMED   37649228
  REMARK    GeneRIF: Cx43 regulates mechanotransduction mechanisms in human
            preterm amniotic membrane defects.
REFERENCE   3  (bases 1 to 3083)
  AUTHORS   Qi C, Acosta Gutierrez S, Lavriha P, Othman A, Lopez-Pigozzi D,
            Bayraktar E, Schuster D, Picotti P, Zamboni N, Bortolozzi M,
            Gervasio FL and Korkhov VM.
  TITLE     Structure of the connexin-43 gap junction channel in a putative
            closed state
  JOURNAL   Elife 12, 87616 (2023)
   PUBMED   37535063
  REMARK    GeneRIF: Structure of the connexin-43 gap junction channel in a
            putative closed state. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3083)
  AUTHORS   Chai C, Sui K, Tang J, Yu H, Yang C, Zhang H, Li SC, Zhong JF, Wang
            Z and Zhang X.
  TITLE     BCR-ABL1-driven exosome-miR130b-3p-mediated gap-junction Cx43 MSC
            intercellular communications imply therapies of leukemic subclonal
            evolution
  JOURNAL   Theranostics 13 (12), 3943-3963 (2023)
   PUBMED   37554265
  REMARK    GeneRIF: BCR-ABL1-driven exosome-miR130b-3p-mediated gap-junction
            Cx43 MSC intercellular communications imply therapies of leukemic
            subclonal evolution. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3083)
  AUTHORS   Wang Z, Fu JX, Zhang XH, Sun Y and Ge XP.
  TITLE     Connexin 43 gap junction affects survival and drug resistance of
            multiple myeloma side population cells
  JOURNAL   J Physiol Pharmacol 74 (3) (2023)
   PUBMED   37661187
  REMARK    GeneRIF: Connexin 43 gap junction affects survival and drug
            resistance of multiple myeloma side population cells.
REFERENCE   6  (bases 1 to 3083)
  AUTHORS   Britz-Cunningham SH, Shah MM, Zuppan CW and Fletcher WH.
  TITLE     Mutations of the Connexin43 gap-junction gene in patients with heart
            malformations and defects of laterality
  JOURNAL   N Engl J Med 332 (20), 1323-1329 (1995)
   PUBMED   7715640
REFERENCE   7  (bases 1 to 3083)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24501781
REFERENCE   8  (bases 1 to 3083)
  AUTHORS   Fishman GI, Moreno AP, Spray DC and Leinwand LA.
  TITLE     Functional analysis of human cardiac gap junction channel mutants
  JOURNAL   Proc Natl Acad Sci U S A 88 (9), 3525-3529 (1991)
   PUBMED   1850831
REFERENCE   9  (bases 1 to 3083)
  AUTHORS   Fishman GI, Eddy RL, Shows TB, Rosenthal L and Leinwand LA.
  TITLE     The human connexin gene family of gap junction proteins: distinct
            chromosomal locations but similar structures
  JOURNAL   Genomics 10 (1), 250-256 (1991)
   PUBMED   1646158
REFERENCE   10  (bases 1 to 3083)
  AUTHORS   Fishman GI, Spray DC and Leinwand LA.
  TITLE     Molecular characterization and functional expression of the human
            cardiac gap junction channel
  JOURNAL   J Cell Biol 111 (2), 589-598 (1990)
   PUBMED   1696265
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.188866.1,
            SRR1660803.132563.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000282561.4/ ENSP00000282561.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP226987.1, BC026329.1,
            AL139098.15 and AW664595.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 3, 2018 this sequence version replaced NM_000165.4.
            Summary: This gene is a member of the connexin gene family. The
            encoded protein is a component of gap junctions, which are composed
            of arrays of intercellular channels that provide a route for the
            diffusion of low molecular weight materials from cell to cell. The
            encoded protein is the major protein of gap junctions in the heart
            that are thought to have a crucial role in the synchronized
            contraction of the heart and in embryonic development. A related
            intronless pseudogene has been mapped to chromosome 5. Mutations in
            this gene have been associated with oculodentodigital dysplasia,
            autosomal recessive craniometaphyseal dysplasia and heart
            malformations. [provided by RefSeq, May 2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3083
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.31"
     gene            1..3083
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="gap junction protein alpha 1"
                     /db_xref="GeneID:2697"
                     /db_xref="HGNC:HGNC:4274"
                     /db_xref="MIM:121014"
     misc_feature    177..179
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="upstream in-frame stop codon"
     CDS             204..1352
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="gap junction 43 kDa heart protein; connexin-43; gap
                     junction protein, alpha 1, 43kDa"
                     /codon_start=1
                     /product="gap junction alpha-1 protein"
                     /protein_id="NP_000156.1"
                     /db_xref="CCDS:CCDS5123.1"
                     /db_xref="GeneID:2697"
                     /db_xref="HGNC:HGNC:4274"
                     /db_xref="MIM:121014"
                     /translation="MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAW
                     GDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWVLQIIFVSVPTLLYLAHVFYVMRKEE
                     KLNKKEEELKVAQTDGVNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKS
                     IFEVAFLLIQWYIYGFSLSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLA
                     LNIIELFYVFFKGVKDRVKGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPM
                     SPPGYKLVTGDRNNSSCRNYNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDD
                     NQNSKKLAAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI"
     misc_feature    216..218
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P08050; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    273..335
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="propagated from UniProtKB/Swiss-Prot (P17302.2);
                     transmembrane region"
     misc_feature    432..494
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="propagated from UniProtKB/Swiss-Prot (P17302.2);
                     transmembrane region"
     misc_feature    669..731
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="propagated from UniProtKB/Swiss-Prot (P17302.2);
                     transmembrane region"
     misc_feature    825..887
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="propagated from UniProtKB/Swiss-Prot (P17302.2);
                     transmembrane region"
     misc_feature    933..1349
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="propagated from UniProtKB/Swiss-Prot (P17302.2);
                     Region: Interaction with NOV.
                     /evidence=ECO:0000250|UniProtKB:P08050"
     misc_feature    942..944
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P23242; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    966..968
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15605363,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    987..989
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14702389,
                     ECO:0000269|PubMed:15605363; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    993..1349
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="propagated from UniProtKB/Swiss-Prot (P17302.2);
                     Region: Interaction with UBQLN4.
                     /evidence=ECO:0000250|UniProtKB:P23242"
     misc_feature    1026..1028
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P23242; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    1119..1121
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P23242; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    1143..1145
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    1152..1349
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="propagated from UniProtKB/Swiss-Prot (P17302.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1176..1178
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="Phosphoserine, by CK1.
                     /evidence=ECO:0000269|PubMed:12270943; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    1179..1181
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P23242; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    1185..1187
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="Phosphoserine, by CK1.
                     /evidence=ECO:0000269|PubMed:12270943; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    1191..1193
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="Phosphoserine, by CK1.
                     /evidence=ECO:0000269|PubMed:12270943; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    1233..1235
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    1296..1298
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P23242; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    1305..1307
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="Phosphoserine, by PKC/PRKCG and PKC/PRKCD.
                     /evidence=ECO:0000250|UniProtKB:P23242; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    1308..1310
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P23242; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    1320..1322
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P08050; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     regulatory      3056..3061
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="hexamer: AATAAA"
     polyA_site      3083
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1;
                     HSS; ODDD; PPKCA"
                     /note="major polyA site"
ORIGIN
        1 aaaagctttt acgaggtatc agcacttttc tttcattagg gggaaggcgt gaggaaagta
       61 ccaaacagca gcggagtttt aaactttaaa tagacaggtc tgagtgcctg aacttgcctt
      121 ttcattttac ttcatcctcc aaggagttca atcacttggc gtgacttcac tacttttaag
      181 caaaagagtg gtgcccaggc aacatgggtg actggagcgc cttaggcaaa ctccttgaca
      241 aggttcaagc ctactcaact gctggaggga aggtgtggct gtcagtactt ttcattttcc
      301 gaatcctgct gctggggaca gcggttgagt cagcctgggg agatgagcag tctgcctttc
      361 gttgtaacac tcagcaacct ggttgtgaaa atgtctgcta tgacaagtct ttcccaatct
      421 ctcatgtgcg cttctgggtc ctgcagatca tatttgtgtc tgtacccaca ctcttgtacc
      481 tggctcatgt gttctatgtg atgcgaaagg aagagaaact gaacaagaaa gaggaagaac
      541 tcaaggttgc ccaaactgat ggtgtcaatg tggacatgca cttgaagcag attgagataa
      601 agaagttcaa gtacggtatt gaagagcatg gtaaggtgaa aatgcgaggg gggttgctgc
      661 gaacctacat catcagtatc ctcttcaagt ctatctttga ggtggccttc ttgctgatcc
      721 agtggtacat ctatggattc agcttgagtg ctgtttacac ttgcaaaaga gatccctgcc
      781 cacatcaggt ggactgtttc ctctctcgcc ccacggagaa aaccatcttc atcatcttca
      841 tgctggtggt gtccttggtg tccctggcct tgaatatcat tgaactcttc tatgttttct
      901 tcaagggcgt taaggatcgg gttaagggaa agagcgaccc ttaccatgcg accagtggtg
      961 cgctgagccc tgccaaagac tgtgggtctc aaaaatatgc ttatttcaat ggctgctcct
     1021 caccaaccgc tcccctctcg cctatgtctc ctcctgggta caagctggtt actggcgaca
     1081 gaaacaattc ttcttgccgc aattacaaca agcaagcaag tgagcaaaac tgggctaatt
     1141 acagtgcaga acaaaatcga atggggcagg cgggaagcac catctctaac tcccatgcac
     1201 agccttttga tttccccgat gataaccaga attctaaaaa actagctgct ggacatgaat
     1261 tacagccact agccattgtg gaccagcgac cttcaagcag agccagcagt cgtgccagca
     1321 gcagacctcg gcctgatgac ctggagatct agatacaggc ttgaaagcat caagattcca
     1381 ctcaattgtg gagaagaaaa aaggtgctgt agaaagtgca ccaggtgtta attttgatcc
     1441 ggtggaggtg gtactcaaca gccttattca tgaggcttag aaaacacaaa gacattagaa
     1501 tacctaggtt cactgggggt gtatggggta gatgggtgga gagggagggg ataagagagg
     1561 tgcatgttgg tatttaaagt agtggattca aagaacttag attataaata agagttccat
     1621 taggtgatac atagataagg gctttttctc cccgcaaaca cccctaagaa tggttctgtg
     1681 tatgtgaatg agcgggtggt aattgtggct aaatattttt gttttaccaa gaaactgaaa
     1741 taattctggc caggaataaa tacttcctga acatcttagg tcttttcaac aagaaaaaga
     1801 cagaggattg tccttaagtc cctgctaaaa cattccattg ttaaaatttg cactttgaag
     1861 gtaagctttc taggcctgac cctccaggtg tcaatggact tgtgctacta tattttttta
     1921 ttcttggtat cagtttaaaa ttcagacaag gcccacagaa taagattttc catgcatttg
     1981 caaatacgta tattcttttt ccatccactt gcacaatatc attaccatca ctttttcatc
     2041 attcctcagc tactactcac attcatttaa tggtttctgt aaacattttt aagacagttg
     2101 ggatgtcact taacattttt tttttgagct aaagtcaggg aatcaagcca tgcttaatat
     2161 ttaacaatca cttatatgtg tgtcgaagag tttgttttgt ttgtcatgta ttggtacaag
     2221 cagatacagt ataaactcac aaacacagat ttgaaaataa tgcacatatg gtgttcaaat
     2281 ttgaaccttt ctcatggatt tttgtggtgt gggccaatat ggtgtttaca ttatataatt
     2341 cctgctgtgg caagtaaagc acactttttt tttctcctaa aatgtttttc cctgtgtatc
     2401 ctattatgga tactggtttt gttaattatg attctttatt ttctctcctt tttttaggat
     2461 atagcagtaa tgctattact gaaatgaatt tcctttttct gaaatgtaat cattgatgct
     2521 tgaatgatag aattttagta ctgtaaacag gctttagtca ttaatgtgag agacttagaa
     2581 aaaatgctta gagtggacta ttaaatgtgc ctaaatgaat tttgcagtaa ctggtattct
     2641 tgggttttcc tacttaatac acagtaattc agaacttgta ttctattatg agtttagcag
     2701 tcttttggag tgaccagcaa ctttgatgtt tgcactaaga ttttatttgg aatgcaagag
     2761 aggttgaaag aggattcagt agtacacata caactaattt atttgaacta tatgttgaag
     2821 acatctacca gtttctccaa atgccttttt taaaactcat cacagaagat tggtgaaaat
     2881 gctgagtatg acacttttct tcttgcatgc atgtcagcta cataaacagt tttgtacaat
     2941 gaaaattact aatttgtttg acattccatg ttaaactacg gtcatgttca gcttcattgc
     3001 atgtaatgta gacctagtcc atcagatcat gtgttctgga gagtgttctt tattcaataa
     3061 agttttaatt tagtataaac ata
//
LOCUS       NM_000166               1937 bp    mRNA    linear   PRI 22-MAR-2023
DEFINITION  Homo sapiens gap junction protein beta 1 (GJB1), transcript variant
            2, mRNA.
ACCESSION   NM_000166
VERSION     NM_000166.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1937)
  AUTHORS   Li M, Yin M, Yang L, Chen Z, Du P, Sun L and Chen J.
  TITLE     A novel splicing mutation in 5'UTR of GJB1 causes X-linked
            Charcot-Marie-tooth disease
  JOURNAL   Mol Genet Genomic Med 11 (3), e2108 (2023)
   PUBMED   36394156
  REMARK    GeneRIF: A novel splicing mutation in 5'UTR of GJB1 causes X-linked
            Charcot-Marie-tooth disease.
REFERENCE   2  (bases 1 to 1937)
  AUTHORS   Huang X, Wu X, Wu B, Mou J and Ma X.
  TITLE     Identification of a rare missense mutation in GJB1 and prenatal
            diagnosis in a Chinese family with CMT: A case report
  JOURNAL   Medicine (Baltimore) 101 (45), e31733 (2022)
   PUBMED   36397455
  REMARK    GeneRIF: Identification of a rare missense mutation in GJB1 and
            prenatal diagnosis in a Chinese family with CMT: A case report.
REFERENCE   3  (bases 1 to 1937)
  AUTHORS   Li H, Wang B, Qi B, Jiang G, Qin M and Yu M.
  TITLE     Connexin32 regulates expansion of liver cancer stem cells via the
            PI3K/Akt signaling pathway
  JOURNAL   Oncol Rep 48 (3) (2022)
   PUBMED   35894130
  REMARK    GeneRIF: Connexin32 regulates expansion of liver cancer stem cells
            via the PI3K/Akt signaling pathway.
REFERENCE   4  (bases 1 to 1937)
  AUTHORS   Yalcouye A, Diallo SH, Cisse L, Karembe M, Diallo S, Coulibaly T,
            Diarra S, Coulibaly D, Keita M, Guinto CO, Fischbeck KH, Wonkam A
            and Landoure G.
  CONSRTM   H3Africa Consortium
  TITLE     GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali
  JOURNAL   J Peripher Nerv Syst 27 (2), 113-119 (2022)
   PUBMED   35383424
  REMARK    GeneRIF: GJB1 variants in Charcot-Marie-Tooth disease X-linked type
            1 in Mali.
REFERENCE   5  (bases 1 to 1937)
  AUTHORS   Abrams,C.K.
  TITLE     GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central
            Nervous System Phenotypes
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301548
REFERENCE   6  (bases 1 to 1937)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301532
REFERENCE   7  (bases 1 to 1937)
  AUTHORS   Wilgenbus KK, Kirkpatrick CJ, Knuechel R, Willecke K and Traub O.
  TITLE     Expression of Cx26, Cx32 and Cx43 gap junction proteins in normal
            and neoplastic human tissues
  JOURNAL   Int J Cancer 51 (4), 522-529 (1992)
   PUBMED   1318266
REFERENCE   8  (bases 1 to 1937)
  AUTHORS   Corcos IA, Lafreniere RG, Begy CR, Loch-Caruso R, Willard HF and
            Glover TW.
  TITLE     Refined localization of human connexin32 gene locus, GJB1, to Xq13.1
  JOURNAL   Genomics 13 (2), 479-480 (1992)
   PUBMED   1319395
REFERENCE   9  (bases 1 to 1937)
  AUTHORS   Mostacciuolo ML, Muller E, Fardin P, Micaglio GF, Bardoni B, Guioli
            S, Camerino G and Danieli GA.
  TITLE     X-linked Charcot-Marie-Tooth disease. A linkage study in a large
            family by using 12 probes of the pericentromeric region
  JOURNAL   Hum Genet 87 (1), 23-27 (1991)
   PUBMED   1674715
REFERENCE   10  (bases 1 to 1937)
  AUTHORS   Konz,B.
  TITLE     [Surgical treatment of rhinophyma]
  JOURNAL   Hautarzt 26 (4), 211-214 (1975)
   PUBMED   125246
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.496304.1,
            SRR7410570.690205.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000361726.7/ ENSP00000354900.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA262106.1, BC002805.1,
            CB155778.1 and AL590762.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 3, 2019 this sequence version replaced NM_000166.5.
            Summary: This gene encodes a member of the gap junction protein
            family. The gap junction proteins are membrane-spanning proteins
            that assemble to form gap junction channels that facilitate the
            transfer of ions and small molecules between cells. According to
            sequence similarities at the nucleotide and amino acid levels, the
            gap junction proteins are divided into two categories, alpha and
            beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth
            disease, an inherited peripheral neuropathy. Alternatively spliced
            transcript variants encoding the same protein have been found for
            this gene. [provided by RefSeq, Oct 2008].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1, and is transcribed from promoter P2. Both variants 1
            and 2 encode the same protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1937
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..1937
                     /gene="GJB1"
                     /gene_synonym="CMTX; CMTX1; CX32"
                     /note="gap junction protein beta 1"
                     /db_xref="GeneID:2705"
                     /db_xref="HGNC:HGNC:4283"
                     /db_xref="MIM:304040"
     misc_feature    120..122
                     /gene="GJB1"
                     /gene_synonym="CMTX; CMTX1; CX32"
                     /note="upstream in-frame stop codon"
     CDS             129..980
                     /gene="GJB1"
                     /gene_synonym="CMTX; CMTX1; CX32"
                     /note="gap junction protein, beta 1, 32kDa; connexin-32;
                     GAP junction 28 kDa liver protein"
                     /codon_start=1
                     /product="gap junction beta-1 protein"
                     /protein_id="NP_000157.1"
                     /db_xref="CCDS:CCDS14408.1"
                     /db_xref="GeneID:2705"
                     /db_xref="HGNC:HGNC:4283"
                     /db_xref="MIM:304040"
                     /translation="MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWG
                     DEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKK
                     MLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMV
                     RLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQ
                     RRSNPPSRKGSGFGHRLSPEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCS
                     AC"
     misc_feature    195..263
                     /gene="GJB1"
                     /gene_synonym="CMTX; CMTX1; CX32"
                     /note="propagated from UniProtKB/Swiss-Prot (P08034.1);
                     transmembrane region"
     misc_feature    354..413
                     /gene="GJB1"
                     /gene_synonym="CMTX; CMTX1; CX32"
                     /note="propagated from UniProtKB/Swiss-Prot (P08034.1);
                     transmembrane region"
     misc_feature    519..587
                     /gene="GJB1"
                     /gene_synonym="CMTX; CMTX1; CX32"
                     /note="propagated from UniProtKB/Swiss-Prot (P08034.1);
                     transmembrane region"
     misc_feature    702..770
                     /gene="GJB1"
                     /gene_synonym="CMTX; CMTX1; CX32"
                     /note="propagated from UniProtKB/Swiss-Prot (P08034.1);
                     transmembrane region"
     misc_feature    825..827
                     /gene="GJB1"
                     /gene_synonym="CMTX; CMTX1; CX32"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P08033; propagated from
                     UniProtKB/Swiss-Prot (P08034.1); phosphorylation site"
     misc_feature    900..902
                     /gene="GJB1"
                     /gene_synonym="CMTX; CMTX1; CX32"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08034.1); phosphorylation site"
     misc_feature    924..926
                     /gene="GJB1"
                     /gene_synonym="CMTX; CMTX1; CX32"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08034.1); phosphorylation site"
     misc_feature    957..959
                     /gene="GJB1"
                     /gene_synonym="CMTX; CMTX1; CX32"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08034.1); phosphorylation site"
     regulatory      1597..1602
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJB1"
                     /gene_synonym="CMTX; CMTX1; CX32"
                     /note="hexamer: ATTAAA"
     polyA_site      1623
                     /gene="GJB1"
                     /gene_synonym="CMTX; CMTX1; CX32"
                     /note="major polyA site"
     regulatory      1913..1918
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJB1"
                     /gene_synonym="CMTX; CMTX1; CX32"
                     /note="hexamer: ATTAAA"
     polyA_site      1937
                     /gene="GJB1"
                     /gene_synonym="CMTX; CMTX1; CX32"
ORIGIN
        1 gggcggtgat gaattgggac gcaggcgcgg agcccaggga ccactccccc tgcacagaca
       61 tgagaccata ggggacctgt ctgggtggcc tcagggatag gcgctcccca aggtgtgaat
      121 gaggcaggat gaactggaca ggtttgtaca ccttgctcag tggcgtgaac cggcattcta
      181 ctgccattgg ccgagtatgg ctctcggtca tcttcatctt cagaatcatg gtgctggtgg
      241 tggctgcaga gagtgtgtgg ggtgatgaga aatcttcctt catctgcaac acactccagc
      301 ctggctgcaa cagcgtttgc tatgaccaat tcttccccat ctcccatgtg cggctgtggt
      361 ccctgcagct catcctagtt tccaccccag ctctcctcgt ggccatgcac gtggctcacc
      421 agcaacacat agagaagaaa atgctacggc ttgagggcca tggggacccc ctacacctgg
      481 aggaggtgaa gaggcacaag gtccacatct cagggacact gtggtggacc tatgtcatca
      541 gcgtggtgtt ccggctgttg tttgaggccg tcttcatgta tgtcttttat ctgctctacc
      601 ctggctatgc catggtgcgg ctggtcaagt gcgacgtcta cccctgcccc aacacagtgg
      661 actgcttcgt gtcccgcccc accgagaaaa ccgtcttcac cgtcttcatg ctagctgcct
      721 ctggcatctg catcatcctc aatgtggccg aggtggtgta cctcatcatc cgggcctgtg
      781 cccgccgagc ccagcgccgc tccaatccac cttcccgcaa gggctcgggc ttcggccacc
      841 gcctctcacc tgaatacaag cagaatgaga tcaacaagct gctgagtgag caggatggct
      901 ccctgaaaga catactgcgc cgcagccctg gcaccggggc tgggctggct gaaaagagcg
      961 accgctgctc ggcctgctga tgccacatac caggcaacct cccatcccac ccccgaccct
     1021 gccctgggcg agcccctcct tctcccctgc cggtgcacag gcctctgcct gctggggatt
     1081 actcgatcaa aaccttcctt ccctggctac ttcccttcct cccggggcct tccttttgag
     1141 gagctggagg ggtggggagc tagaggccac ctatgccagt gctcaaggtt actgggagtg
     1201 tgggctgccc ttgttgcctg cacccttccc tcttccctct ccctctctct gggaccactg
     1261 ggtacaagag atgggatgct ccgacagcgt ctccaattat gaaactaatc ttaaccctgt
     1321 gctgtcagat accctgtttc tggagtcaca tcagtgagga gggatgtggg taagaggagc
     1381 agagggcagg ggtgctgtgg acatgtgggt ggagaaggga gggtggccag cactagtaaa
     1441 ggaggaatag tgcttgctgg ccacaaggaa aaggaggagg tgtctggggt gagggagtta
     1501 gggagagaga agcaggcaga taagttggag caggggttgg tcaaggccac ctctgcctct
     1561 agtccccaag gcctctctct gcctgaaatg ttacacatta aacaggattt tacagtaaat
     1621 gaagaggtgg cttgtgtgtt tgtcaagttc tttctcctgc aacctctgac ctcccccagg
     1681 atgagctggc cttggttttt tactgattaa gaaaggaaca gggcaaaaga agtagttact
     1741 tgagtagctg aagctgcaaa tgaggaaatc actgtacttc tgggccgcag agccagcccc
     1801 ggagccattc ctccctgttg cttttgttgt tgtggttctt gtctttttca ttgtctaata
     1861 acagctttat tgggatttag tttacatacc tccttcctct gattttgaaa agattaaaaa
     1921 tgacaactcc ctctgaa
//
LOCUS       NM_000168               8405 bp    mRNA    linear   PRI 06-JUL-2023
DEFINITION  Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.
ACCESSION   NM_000168
VERSION     NM_000168.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8405)
  AUTHORS   Pagnamenta AT, Yu J, Evans J, Twiss P, Offiah AC, Wafik M, Mehta SG,
            Javaid MK, Smithson SF and Taylor JC.
  CONSRTM   Genomics England Research Consortium; Musculoskeletal GeCIP MDT
  TITLE     Conclusion of diagnostic odysseys due to inversions disrupting GLI3
            and FBN1
  JOURNAL   J Med Genet 60 (5), 505-510 (2023)
   PUBMED   36411030
  REMARK    GeneRIF: Conclusion of diagnostic odysseys due to inversions
            disrupting GLI3 and FBN1.
REFERENCE   2  (bases 1 to 8405)
  AUTHORS   Matissek SJ, Karbalivand M, Han W, Boutilier A, Yzar-Garcia E, Kehoe
            LL, Gardner DS, Hage A, Fleck K, Jeffers V, Rajsbaum R and Elsawa
            SF.
  TITLE     A novel mechanism of regulation of the oncogenic transcription
            factor GLI3 by toll-like receptor signaling
  JOURNAL   Oncotarget 13, 944-959 (2022)
   PUBMED   35937499
  REMARK    GeneRIF: A novel mechanism of regulation of the oncogenic
            transcription factor GLI3 by toll-like receptor signaling.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 8405)
  AUTHORS   Wang Y, Hao X, Jia X, Ji W, Yuan S, Gnamey EJA, Huang M, Xu L, Zhang
            X, Bai J, Sun W, Fu S, Liu Y and Wu J.
  TITLE     A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a
            Chinese family affected by polydactyly
  JOURNAL   Mol Genet Genomic Med 10 (7), e1968 (2022)
   PUBMED   35546307
  REMARK    GeneRIF: A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in
            a Chinese family affected by polydactyly.
REFERENCE   4  (bases 1 to 8405)
  AUTHORS   Shen X, Zhang S, Zhang X, Zhou T and Rui Y.
  TITLE     Two nonsense GLI3 variants are associated with polydactyly and
            syndactyly in two families by affecting the sonic hedgehog signaling
            pathway
  JOURNAL   Mol Genet Genomic Med 10 (4), e1895 (2022)
   PUBMED   35218158
  REMARK    GeneRIF: Two nonsense GLI3 variants are associated with polydactyly
            and syndactyly in two families by affecting the sonic hedgehog
            signaling pathway.
REFERENCE   5  (bases 1 to 8405)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview - RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301753
REFERENCE   6  (bases 1 to 8405)
  AUTHORS   Biesecker,L.G.
  TITLE     GLI3-Related Pallister-Hall Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301638
REFERENCE   7  (bases 1 to 8405)
  AUTHORS   Biesecker,L.G. and Johnston,J.J.
  TITLE     Greig Cephalopolysyndactyly Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301619
REFERENCE   8  (bases 1 to 8405)
  AUTHORS   Pettigrew AL, Greenberg F, Caskey CT and Ledbetter DH.
  TITLE     Greig syndrome associated with an interstitial deletion of 7p:
            confirmation of the localization of Greig syndrome to 7p13
  JOURNAL   Hum Genet 87 (4), 452-456 (1991)
   PUBMED   1879832
REFERENCE   9  (bases 1 to 8405)
  AUTHORS   Ruppert JM, Vogelstein B, Arheden K and Kinzler KW.
  TITLE     GLI3 encodes a 190-kilodalton protein with multiple regions of GLI
            similarity
  JOURNAL   Mol Cell Biol 10 (10), 5408-5415 (1990)
   PUBMED   2118997
REFERENCE   10  (bases 1 to 8405)
  AUTHORS   Ruppert JM, Kinzler KW, Wong AJ, Bigner SH, Kao FT, Law ML, Seuanez
            HN, O'Brien SJ and Vogelstein B.
  TITLE     The GLI-Kruppel family of human genes
  JOURNAL   Mol Cell Biol 8 (8), 3104-3113 (1988)
   PUBMED   2850480
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.2192517.1,
            SRR14038194.3922560.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000395925.8/ ENSP00000379258.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005158.3, AI863961.1,
            BC113616.1, AA330409.1, DA713549.1, AC005028.2 and BI497308.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000168.5.
            Summary: This gene encodes a protein which belongs to the C2H2-type
            zinc finger proteins subclass of the Gli family. They are
            characterized as DNA-binding transcription factors and are
            mediators of Sonic hedgehog (Shh) signaling. The protein encoded by
            this gene localizes in the cytoplasm and activates patched
            Drosophila homolog (PTCH) gene expression. It is also thought to
            play a role during embryogenesis. Mutations in this gene have been
            associated with several diseases, including Greig
            cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial
            polydactyly type IV, and postaxial polydactyly types A1 and B.
            [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8405
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.1"
     gene            1..8405
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="GLI family zinc finger 3"
                     /db_xref="GeneID:2737"
                     /db_xref="HGNC:HGNC:4319"
                     /db_xref="MIM:165240"
     misc_feature    270..272
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="upstream in-frame stop codon"
     CDS             282..5024
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="zinc finger protein GLI3; glioma-associated oncogene
                     family zinc finger 3; GLI-Kruppel family member GLI3;
                     oncogene GLI3"
                     /codon_start=1
                     /product="transcriptional activator GLI3"
                     /protein_id="NP_000159.3"
                     /db_xref="CCDS:CCDS5465.1"
                     /db_xref="GeneID:2737"
                     /db_xref="HGNC:HGNC:4319"
                     /db_xref="MIM:165240"
                     /translation="MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNEDES
                     PGQTYHRERRNAITMQPQNVQGLSKVSEEPSTSSDERASLIKKEIHGSLPHVAEPSVPY
                     RGTVFAMDPRNGYMEPHYHPPHLFPAFHPPVPIDARHHEGRYHYDPSPIPPLHMTSALS
                     SSPTYPDLPFIRISPHRNPTAASESPFSPPHPYINPYMDYIRSLHSSPSLSMISATRGL
                     SPTDAPHAGVSPAEYYHQMALLTGQRSPYADIIPSAATAGTGAIHMEYLHAMDSTRFSS
                     PRLSARPSRKRTLSISPLSDHSFDLQTMIRTSPNSLVTILNNSRSSSSASGSYGHLSAS
                     AISPALSFTYSSAPVSLHMHQQILSRQQSLGSAFGHSPPLIHPAPTFPTQRPIPGIPTV
                     LNPVQVSSGPSESSQNKPTSESAVSSTGDPMHNKRSKIKPDEDLPSPGARGQQEQPEGT
                     TLVKEEGDKDESKQEPEVIYETNCHWEGCAREFDTQEQLVHHINNDHIHGEKKEFVCRW
                     LDCSREQKPFKAQYMLVVHMRRHTGEKPHKCTFEGCTKAYSRLENLKTHLRSHTGEKPY
                     VCEHEGCNKAFSNASDRAKHQNRTHSNEKPYVCKIPGCTKRYTDPSSLRKHVKTVHGPE
                     AHVTKKQRGDIHPRPPPPRDSGSHSQSRSPGRPTQGALGEQQDLSNTTSKREECLQVKT
                     VKAEKPMTSQPSPGGQSSCSSQQSPISNYSNSGLELPLTDGGSIGDLSAIDETPIMDST
                     ISTATTALALQARRNPAGTKWMEHVKLERLKQVNGMFPRLNPILPPKAPAVSPLIGNGT
                     QSNNTCSLGGPMTLLPGRSDLSGVDVTMLNMLNRRDSSASTISSAYLSSRRSSGISPCF
                     SSRRSSEASQAEGRPQNVSVADSYDPISTDASRRSSEASQSDGLPSLLSLTPAQQYRLK
                     AKYAAATGGPPPTPLPNMERMSLKTRLALLGDALEPGVALPPVHAPRRCSDGGAHGYGR
                     RHLQPHDAPGHGVRRASDPVRTGSEGLALPRVPRFSSLSSCNPPAMATSAEKRSLVLQN
                     YTRPEGGQSRNFHSSPCPPSITENVTLESLTMDADANLNDEDFLPDDVVQYLNSQNQAG
                     YEQHFPSALPDDSKVPHGPGDFDAPGLPDSHAGQQFHALEQPCPEGSKTDLPIQWNEVS
                     SGSADLSSSKLKCGPRPAVPQTRAFGFCNGMVVHPQNPLRSGPAGGYQTLGENSNPYGG
                     PEHLMLHNSPGSGTSGNAFHEQPCKAPQYGNCLNRQPVAPGALDGACGAGIQASKLKST
                     PMQGSGGQLNFGLPVAPNESAGSMVNGMQNQDPVGQGYLAHQLLGDSMQHPGAGRPGQQ
                     MLGQISATSHINIYQGPESCLPGAHGMGSQPSSLAVVRGYQPCASFGGSRRQAMPRDSL
                     ALQSGQLSDTSQTCRVNGIKMEMKGQPHPLCSNLQNYSGQFYDQTVGFSQQDTKAGSFS
                     ISDASCLLQGTSAKNSELLSPGANQVTSTVDSLDSHDLEGVQIDFDAIIDDGDHSSLMS
                     GALSPSIIQNLSHSSSRLTTPRASLPFPALSMSTTNMAIGDMSSLLTSLAEESKFLAVM
                     Q"
     misc_feature    282..518
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="propagated from UniProtKB/Swiss-Prot (P10071.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    282..284
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P10071.6); acetylation site"
     misc_feature    804..806
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q61602; propagated from
                     UniProtKB/Swiss-Prot (P10071.6); methylation site"
     misc_feature    1383..1706
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="propagated from UniProtKB/Swiss-Prot (P10071.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2139..2465
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="propagated from UniProtKB/Swiss-Prot (P10071.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2271..2273
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P10071.6); phosphorylation site"
     misc_feature    2514..2816
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="propagated from UniProtKB/Swiss-Prot (P10071.6);
                     Region: Mediates interaction with DZIP1.
                     /evidence=ECO:0000250|UniProtKB:Q61602"
     misc_feature    2826..2828
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:10693759; propagated from
                     UniProtKB/Swiss-Prot (P10071.6); phosphorylation site"
     misc_feature    2868..3035
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="propagated from UniProtKB/Swiss-Prot (P10071.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2874..2876
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:10693759; propagated from
                     UniProtKB/Swiss-Prot (P10071.6); phosphorylation site"
     misc_feature    2910..2912
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:10693759; propagated from
                     UniProtKB/Swiss-Prot (P10071.6); phosphorylation site"
     misc_feature    3000..3002
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:10693759; propagated from
                     UniProtKB/Swiss-Prot (P10071.6); phosphorylation site"
     misc_feature    3219..3221
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:10693759; propagated from
                     UniProtKB/Swiss-Prot (P10071.6); phosphorylation site"
     misc_feature    3222..3407
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="propagated from UniProtKB/Swiss-Prot (P10071.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3297..3299
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:10693759; propagated from
                     UniProtKB/Swiss-Prot (P10071.6); phosphorylation site"
     regulatory      8382..8387
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="hexamer: AATAAA"
     polyA_site      8405
                     /gene="GLI3"
                     /gene_synonym="ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA;
                     PAPA1; PAPB; PHS; PPDIV"
                     /note="major polyA site"
ORIGIN
        1 acactcgcac tcgcgcacac ccgccgctcc cactcacccg cgccgctctc ccgccttccc
       61 cgcgcgcccc gcggccgccc gcgccgcacc atgcccgcgg cgggcgcacc ccgcgcccag
      121 cccggccgct cgcggtagcc gtagccgccc gcggccgcgc ggagcgggga gccgccagcc
      181 tgcgccccgt ccgcgggtct atgggaagtt cggggacttg acagccgctg ccgccgcagg
      241 gcatttttgg tcgaagagag ctgaagtaat gagaagacat catggaggcc cagtcccaca
      301 gctccacgac cactgaaaag aaaaaagttg agaattccat agtgaagtgc tccactcgaa
      361 cagatgtgag cgagaaagcc gttgcctcca gcaccacttc taatgaggat gaaagtcctg
      421 gacagactta tcacagagag agaagaaacg caatcactat gcagccacag aatgtccagg
      481 ggctcagcaa agtcagtgag gaaccttcaa catcgagtga cgagagggcc tcattgatca
      541 agaaagagat ccatgggtcc ctgccacacg tggcggagcc ctctgtgccg taccgcggga
      601 cggtgtttgc catggacccc aggaatggtt acatggagcc ccactaccac cctcctcatc
      661 ttttccctgc cttccatcct cctgtaccaa ttgatgccag acatcatgag ggccgttacc
      721 attacgatcc atctccgatt cctccattgc atatgacttc cgccttatct agtagcccta
      781 cgtatccgga cctgcccttc attaggatct ccccacaccg gaaccccact gctgcttccg
      841 agtctccctt cagccctcca catccctaca ttaatcccta catggactat atccgctcct
      901 tgcacagcag cccatcgctc tccatgatct cagcaacccg tgggctgagc cctacagatg
      961 cgccccatgc aggagtcagc ccagcagaat actatcatca gatggccctg ctaactggcc
     1021 agcgcagccc ctatgcagac attattccct cagctgccac cgccggcacg ggggccatcc
     1081 acatggaata tcttcatgct atggatagca ccagattctc cagccccagg ctgtcagcca
     1141 ggccgagccg aaaacgtaca ctgtccatat caccactctc cgatcatagc tttgaccttc
     1201 agaccatgat aaggacgtct cccaactcct tggtcacgat tctcaataat tcccgtagca
     1261 gctcttcagc aagtggctcc tatggtcact tatctgcaag tgcaatcagc cctgccttga
     1321 gcttcaccta ctcttccgcg cccgtctctc tccacatgca tcagcagatc ctaagccgac
     1381 aacagagctt aggttcagcc tttggacaca gccctccact catccaccct gccccaactt
     1441 ttccaacaca gaggcctatt ccagggatcc ctacggttct gaaccccgtc caggtcagct
     1501 ccggcccttc tgagtcctca cagaacaagc ccacgagtga gtctgcagtg agcagcactg
     1561 gtgacccgat gcacaacaag aggtccaaga tcaaacccga tgaagacctc cccagcccag
     1621 gggctcgggg gcagcaggaa cagcccgaag gaacaaccct tgtcaaggag gaaggggaca
     1681 aagatgaaag caaacaggag cctgaagtca tctatgagac aaactgccac tgggaaggct
     1741 gcgcgaggga gttcgacacc caagagcagc ttgtgcacca tataaataac gaccatattc
     1801 atggagagaa gaaggagttc gtgtgcaggt ggctggactg ctcaagagag cagaaaccct
     1861 tcaaagccca gtatatgttg gtagtgcata tgagaagaca cacgggcgag aagcctcaca
     1921 aatgcacttt tgaaggttgc acaaaggcct actcgagact agaaaacttg aaaacacact
     1981 tgagatctca cactggagag aaaccatacg tctgtgagca cgaaggttgc aacaaggctt
     2041 tctcaaatgc ctctgatcgc gccaaacacc aaaacagaac gcattccaat gagaaaccat
     2101 atgtgtgcaa aatcccaggc tgcactaagc gttacacaga cccaagctcc ctccggaaac
     2161 atgtgaagac agtgcatggc ccagaggctc atgtcaccaa gaagcagcga ggggacatcc
     2221 atcctcggcc gccacccccg agagattccg gcagccattc acagtccagg tcgcctggcc
     2281 gaccgactca gggagccctt ggtgagcagc aggacctcag caacactacc tcaaagcggg
     2341 aagaatgcct ccaggtgaaa accgtcaagg cagagaagcc aatgacatct cagccaagcc
     2401 ctggtggtca gtcttcatgc agcagccaac agtcccccat cagcaactat tccaacagtg
     2461 ggctcgagct tcctctgacc gatggaggta gtataggaga cctcagtgcc atcgatgaaa
     2521 ccccaatcat ggactcaacc atttccactg caaccacagc ccttgctttg caagccagga
     2581 gaaacccggc agggaccaaa tggatggagc acgtaaaact agaaaggcta aaacaagtga
     2641 atggaatgtt tccgcgactg aaccccattc taccccctaa agcccctgcg gtctctcctc
     2701 tcataggaaa tggcacacag tccaacaaca cctgcagctt gggtgggccc atgacgcttc
     2761 tcccgggcag aagcgacctc tctggggtgg acgtcactat gctgaacatg ctcaacagaa
     2821 gggacagcag cgccagcacc atcagctcgg cctacctgag cagccgccgc tcctcaggga
     2881 tctcgccctg cttctccagc cgccgctcca gcgaggcgtc acaggccgag ggccggccgc
     2941 agaacgtgag cgtggccgac tcctacgacc ccatctccac cgacgcctcg cgccgctcca
     3001 gcgaagccag ccagagcgac ggcctgccca gcctgctcag cctcacgccc gcccagcagt
     3061 accgcctcaa ggccaagtac gcggctgcca caggagggcc gccgccgacg cccctgccca
     3121 acatggagag gatgagcctg aagacgcgcc tggcgctgct cggggatgcc ctcgagcctg
     3181 gcgtggccct gcctccagtt catgccccga ggaggtgcag cgacggggga gcccacggct
     3241 acgggcggcg ccacctgcag ccgcacgatg cgccgggcca cggcgtgagg agggccagcg
     3301 acccggtgcg gacaggctcc gagggcctgg ccctgcctcg tgtgccgcgc ttcagcagcc
     3361 tcagcagctg caaccccccg gcgatggcca cgtccgcgga gaagcgcagt ctcgtgcttc
     3421 agaattacac gcggcccgag ggcggccagt cccgaaactt ccactcgtcc ccctgtcctc
     3481 ccagcatcac cgagaacgtc accctggagt ccctgaccat ggacgctgat gccaacctga
     3541 acgatgagga tttcctgccg gacgacgtgg tgcagtattt aaattcccag aaccaagcag
     3601 ggtacgagca gcacttcccc agcgccctcc cggacgacag caaagtgccc cacgggcccg
     3661 gtgactttga cgcgcccggg ctgccagaca gccacgctgg ccagcagttc catgccctcg
     3721 agcagccctg ccccgagggc agcaaaaccg acctgcccat tcagtggaac gaagtcagct
     3781 ccggaagcgc cgacctgtcc tcctccaagc tcaagtgtgg gccgcggccc gctgtgccgc
     3841 agactcgcgc ctttgggttc tgcaacggca tggtcgtcca cccgcagaac cccttgagga
     3901 gcgggcctgc tgggggctat cagaccctcg gggagaacag caacccctac ggtggcccag
     3961 agcacttgat gctccacaac agccccggaa gtggcaccag tggaaacgcc ttccatgaac
     4021 agccctgtaa ggccccgcag tatgggaact gtctcaacag gcagccagtg gcccctggtg
     4081 cactcgacgg tgcctgtggt gccgggattc aagcctcaaa gctgaagagc acccccatgc
     4141 aagggagcgg gggccagctg aatttcggcc tgccggtagc gccaaatgag tcagctggca
     4201 gcatggtgaa tggcatgcag aaccaggacc cagtgggaca ggggtacctg gctcaccagc
     4261 tcctcggcga cagcatgcag cacccggggg caggccgccc cggtcagcag atgcttgggc
     4321 agattagtgc tacctcacac atcaacatct accaagggcc agagagctgc ctgccagggg
     4381 ctcacggcat gggcagccag ccgtcaagct tggcagttgt caggggctac cagccatgtg
     4441 ccagctttgg gggcagcagg cgccaggcta tgccgaggga cagccttgct ctgcagtcag
     4501 gacagctcag tgacacaagt cagacctgca gggtgaatgg tatcaagatg gagatgaaag
     4561 ggcagcccca tccgctgtgc tctaatctgc agaattactc tggtcagttc tatgaccaaa
     4621 ccgtgggctt cagtcagcaa gacacgaaag ctggttcatt ctctatttca gacgccagct
     4681 gcctgctaca ggggaccagc gccaaaaact ctgagttact ttccccaggt gctaatcagg
     4741 tgacaagcac agtggacagc ctcgacagcc atgacctgga aggggtacag attgacttcg
     4801 atgccatcat agacgatggg gaccactcca gcctgatgtc gggggccctg agcccaagta
     4861 tcattcagaa cctttcccat agctcctccc gcctcaccac gcctcgggcg tccctcccat
     4921 tcccagcgct gtccatgagc accaccaaca tggctatcgg ggacatgagt tctttgctga
     4981 cctccctagc ggaagaaagc aaattccttg cagttatgca ataggcttta ggaaaaaaag
     5041 actgcaacca acggaaatca ataggagttg aagagattaa actgactttg ttttggctgt
     5101 ttttttagtt ctgtatgtat tttagcaatc tcatctcacc taactgagat gtgtttcaat
     5161 tatattcctt ttatggaaaa ggactctgaa aaaccctaaa gtattctagg gagaaactgt
     5221 cttccatttc agttttgaat cagtattgtt acactcaaac caccctcttt ttaaaaaaaa
     5281 aaaaaaaaac tgtaagcccc gccccctttt tagtaaaccg atgtaaattt gtgatgtgca
     5341 tattcttctt tcttttagaa gagcagtcaa attaaaggat ttgacatgtt ttgctgttgc
     5401 tcaaaggaaa taggagttgg tgtgcttgtg accaaggggt tacacttcca gcttttaaaa
     5461 ttctccttta catgtgctca gtgttttgtt ttgtgttttg gtttctgttt tttattttaa
     5521 ttcccacatt gggcacaaga atcagaatat ggatagctag tttaagaaac ttttgtgggt
     5581 gcactgtagc atagatgaca gaatattgat gttcccccca tctccaattc agttcagggc
     5641 attccacagt taaacagaaa tgggaacgtg gggctcttat aaatgaaatg ggcgctcaca
     5701 gttttggttt tcagctcttc atgtctgtaa gtgtgctttg ggggaggcta tgtctgtatg
     5761 gtcgattctc agttatcaca tttgcctctc ctcccactac cttcatgaac attcagtgct
     5821 gtttcgcact gcagttagag agaagggacg gacagttggt gacactcagc cacattgcta
     5881 cttttatctg ttctggtaag aagttagata gatggtagat tgaagcaatt gggtagaatt
     5941 agttggggga atatttatga gttgctgtgt ttgttgatta gttccatctc tttcccattt
     6001 taactgagaa ttgattatat atagctctaa gtatataggt atttaaacaa ccccacaagc
     6061 ggctgtatca gtaacattta ttaattccac tatagtgagg gaggatttcc attctaaata
     6121 ccttattttg agggatttat aaaacttagt tgtaaaagag aaagcccaca tagtgggaat
     6181 aaattgcttc agccattttt agtatttgag agcactaggg aagatgttta gtagctgtgt
     6241 ggatgccttt tttcacaccc tgtctattga atgctgcatc cattcacgaa gttaaatgtt
     6301 acatgcagtt agtccttaat gtggactgga tctgtacttt tgttttggat taaaacattt
     6361 aaagattttt gaagtgcagc tactccccac gtgcatttga tacacataaa agtcatactg
     6421 tgtgtgcaca aagagtacat ggattttcca gcatattgct ttaaaaaatt atataaactg
     6481 ttaaaatatt aacacctcag gctacctgct gtattctgtc ccattgaccc ctggaattgg
     6541 atttactgca agtgattgat aattcaatta tgtggctttt cccctttaat cttgccattt
     6601 aaattacagt agaaagacaa aatcaagtaa aataaagtgt tagataatag aaagagtgtt
     6661 aagaccagcc cacttttctc atgtttatgt tctttcattt ggaccaagaa tctccgcatg
     6721 gaggttgatt tgccactggg gactttggct aagactatta ggtttgcttt caactagatg
     6781 ttcctgagac aagcagaggg acactgcaat tccccttcca tgcctgctgt tctcccccat
     6841 gtaagtcttc tttgaaatta acggatgtgt ctcctttgga acagccccat aacaaaagag
     6901 aactactgat ctgagcatag gaaagtagag gctctaccac ttttcagttg aaaaagcaag
     6961 actttctctg tgtttctgaa acaaggcata atgttgtcac agaatcagag atccagtctc
     7021 acttttccac aaatctccaa atctccagtc ttatcttgtg tgctctaatg gtttggttca
     7081 atccctttcc aactcttgtt ttcaaagcat ggggcctgag tgttctccac tcctcctaag
     7141 aaaggagctt gggtggaagg gaccatgctg acctcctcca tcagagggct cttccagtag
     7201 tattctcgga tgcaacctcc atttctcagt taccattatt tcctgtatca gctttgtcct
     7261 tcctggaggg atgcacagtg atccggccca ccactgttgt tgtcttgtgc ttctgctctt
     7321 tcctatggtt tcaggttatt ttctgggttt cccctattct tcttttattt cttttttttt
     7381 ttatatttgc tttcctttct actgctttta gatttgcagg agatgcaagt ttcagctcaa
     7441 tgtttggctt ctctcaatat ggaaatttca gaaggacaga ggagaggagg gaggaagaag
     7501 aaagtatact cctccagaat ttcagtgatc tgttgtggca gtccagtgga aggaaggtct
     7561 tttgaggtca cttagaagca tctttttggg acatcctttt gggatctctg taggctaggc
     7621 atctcatatc ttgagactca cccccagcct ccaagcctct ctccatttct ctaacctatg
     7681 cattttagag cgagaggacc gcctcactag tgtcaccatc ctgccttttc taaaacatgc
     7741 aggctcacac attctactcc tgcttaatgt ctgtgttaaa cgttttctaa ccatttttgt
     7801 tttatttttc tgaaaaagtt aacccctccc aactcctcac acattggctc ttcctcttga
     7861 gccacaaagt tttgattctt gcgatgtatg tgccttattt tatgttaatc ttgtcaatga
     7921 gagggaccag ttggtgttgc ccaatcagca ctccaaggct gtgtgtgcac cagccagaga
     7981 gcgcacggtg gtagcagagt cgaggctgtc ttgtatcctg gtttcatgtg ttgttttgaa
     8041 ctgataggag gatgttctct tctgacaagt tacccttgtg tatcctgcag acatgtaaaa
     8101 taaaatacaa gttcattttt ttcacctttt ttagattttt ttaaaaaata aaatgtgtaa
     8161 tccttttttt aaaagaaaca catgtaaata catttaagta ttgtaggcat agcgttcaga
     8221 tgtgactggc ccaggcgttc ctcggacaag cctgcattcc ccgtgatcac gcccacctca
     8281 agcccagggg ctgcagccca gccacagatg aactctacct ttgctttcag aaccacttag
     8341 tccttttgta acaaagaaaa aaaaatgttt cttacaatgt caataaaaaa ttctttgtat
     8401 ggaaa
//
LOCUS       NM_000169               1318 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens galactosidase alpha (GLA), transcript variant 1, mRNA.
ACCESSION   NM_000169
VERSION     NM_000169.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1318)
  AUTHORS   Mizutani Y, Nawashiro K, Ohdake R, Tatebe H, Shima S, Ueda A,
            Yoshimoto J, Ito M, Tokuda T, Mutoh T and Watanabe H.
  TITLE     Enzymatic properties and clinical associations of serum
            alpha-galactosidase A in Parkinson's disease
  JOURNAL   Ann Clin Transl Neurol 10 (9), 1662-1672 (2023)
   PUBMED   37496179
  REMARK    GeneRIF: Enzymatic properties and clinical associations of serum
            alpha-galactosidase A in Parkinson's disease.
REFERENCE   2  (bases 1 to 1318)
  AUTHORS   Okada E, Horinouchi T, Yamamura T, Aoto Y, Suzuki R, Ichikawa Y,
            Tanaka Y, Masuda C, Kitakado H, Kondo A, Sakakibara N, Ishiko S,
            Nagano C, Ishimori S, Usui J, Yamagata K, Matsuo M and Nozu K.
  TITLE     All reported non-canonical splice site variants in GLA cause
            aberrant splicing
  JOURNAL   Clin Exp Nephrol 27 (9), 737-746 (2023)
   PUBMED   37254000
  REMARK    GeneRIF: All reported non-canonical splice site variants in GLA
            cause aberrant splicing.
REFERENCE   3  (bases 1 to 1318)
  AUTHORS   Cianci V, Pascarella A, Manzo L, Gasparini S, Marsico O, Mammi A,
            Rao CM, Franzutti C, Aguglia U and Ferlazzo E.
  TITLE     Late-onset fabry disease due to the p.Phe113Leu variant: the first
            italian cluster of five families
  JOURNAL   Metab Brain Dis 38 (6), 1905-1912 (2023)
   PUBMED   37097439
  REMARK    GeneRIF: Late-onset fabry disease due to the p.Phe113Leu variant:
            the first italian cluster of five families.
REFERENCE   4  (bases 1 to 1318)
  AUTHORS   Valtola K, Hedman M, Kantola I, Walls S, Helisalmi S, Maria M, Raivo
            J, Auray-Blais C and Kuusisto J.
  TITLE     Late-onset and classic phenotypes of Fabry disease in males with the
            GLA-Thr410Ala mutation
  JOURNAL   Open Heart 10 (1) (2023)
   PUBMED   36927868
  REMARK    GeneRIF: Late-onset and classic phenotypes of Fabry disease in males
            with the GLA-Thr410Ala mutation.
REFERENCE   5  (bases 1 to 1318)
  AUTHORS   Palaiodimou L, Stefanou MI, Bakola E, Papadopoulou M, Kokotis P,
            Vrettou AR, Kapsia E, Petras D, Anastasakis A, Xifaras N,
            Karachaliou E, Touloumi G, Vlachopoulos C, Boletis IN, Giannopoulos
            S, Tsivgoulis G and Zompola C.
  TITLE     D313Y Variant in Fabry Disease: A Systematic Review and
            Meta-analysis
  JOURNAL   Neurology 99 (19), e2188-e2200 (2022)
   PUBMED   36344272
  REMARK    GeneRIF: D313Y Variant in Fabry Disease: A Systematic Review and
            Meta-analysis.
REFERENCE   6  (bases 1 to 1318)
  AUTHORS   Mehta,A. and Hughes,D.A.
  TITLE     Fabry Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301469
REFERENCE   7  (bases 1 to 1318)
  AUTHORS   Ioannou YA, Bishop DF and Desnick RJ.
  TITLE     Overexpression of human alpha-galactosidase A results in its
            intracellular aggregation, crystallization in lysosomes, and
            selective secretion
  JOURNAL   J Cell Biol 119 (5), 1137-1150 (1992)
   PUBMED   1332979
REFERENCE   8  (bases 1 to 1318)
  AUTHORS   Ishii S, Sakuraba H and Suzuki Y.
  TITLE     Point mutations in the upstream region of the alpha-galactosidase A
            gene exon 6 in an atypical variant of Fabry disease
  JOURNAL   Hum Genet 89 (1), 29-32 (1992)
   PUBMED   1315715
REFERENCE   9  (bases 1 to 1318)
  AUTHORS   von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen
            EG, Christomanou H, Kandolf R, Bishop DF and Desnick RJ.
  TITLE     An atypical variant of Fabry's disease with manifestations confined
            to the myocardium
  JOURNAL   N Engl J Med 324 (6), 395-399 (1991)
   PUBMED   1846223
REFERENCE   10  (bases 1 to 1318)
  AUTHORS   Dean,K.J. and Sweeley,C.C.
  TITLE     Studies on human liver alpha-galactosidases. I. Purification of
            alpha-galactosidase A and its enzymatic properties with glycolipid
            and oligosaccharide substrates
  JOURNAL   J Biol Chem 254 (20), 9994-10000 (1979)
   PUBMED   39940
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK222627.1, X05790.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000218516.4/ ENSP00000218516.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL035422.12, BC002689.2 and
            DB370480.1.
            On Nov 12, 2019 this sequence version replaced NM_000169.2.
            Summary: This gene encodes a homodimeric glycoprotein that
            hydrolyses the terminal alpha-galactosyl moieties from glycolipids
            and glycoproteins. This enzyme predominantly hydrolyzes ceramide
            trihexoside, and it can catalyze the hydrolysis of melibiose into
            galactose and glucose. A variety of mutations in this gene affect
            the synthesis, processing, and stability of this enzyme, which
            causes Fabry disease, a rare lysosomal storage disorder that
            results from a failure to catabolize alpha-D-galactosyl glycolipid
            moieties. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1318
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     gene            1..1318
                     /gene="GLA"
                     /gene_synonym="GALA"
                     /note="galactosidase alpha"
                     /db_xref="GeneID:2717"
                     /db_xref="HGNC:HGNC:4296"
                     /db_xref="MIM:300644"
     CDS             23..1312
                     /gene="GLA"
                     /gene_synonym="GALA"
                     /EC_number="3.2.1.22"
                     /note="isoform b precursor is encoded by transcript variant
                     1; alpha-D-galactosidase A; alpha-gal A; melibiase;
                     alpha-D-galactoside galactohydrolase 1; agalsidase alfa;
                     alpha-galactosidase A;
                     galactosylgalactosylglucosylceramidase GLA"
                     /codon_start=1
                     /product="alpha-galactosidase A isoform b precursor"
                     /protein_id="NP_000160.1"
                     /db_xref="CCDS:CCDS14484.1"
                     /db_xref="GeneID:2717"
                     /db_xref="HGNC:HGNC:4296"
                     /db_xref="MIM:300644"
                     /translation="MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWL
                     HWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEG
                     RLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWG
                     VDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQY
                     CNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQV
                     TQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVW
                     ERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEW
                     TSRLRSHINPTGTVLLQLENTMQMSLKDLL"
     sig_peptide     23..115
                     /gene="GLA"
                     /gene_synonym="GALA"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     116..1309
                     /gene="GLA"
                     /gene_synonym="GALA"
                     /product="Alpha-galactosidase A. /id=PRO_0000001004"
                     /note="propagated from UniProtKB/Swiss-Prot (P06280.1)"
     misc_feature    437..439
                     /gene="GLA"
                     /gene_synonym="GALA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15003450; propagated from
                     UniProtKB/Swiss-Prot (P06280.1); glycosylation site"
     misc_feature    596..598
                     /gene="GLA"
                     /gene_synonym="GALA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15003450; propagated from
                     UniProtKB/Swiss-Prot (P06280.1); glycosylation site"
     misc_feature    665..667
                     /gene="GLA"
                     /gene_synonym="GALA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15003450,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P06280.1); glycosylation site"
     regulatory      1294..1299
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLA"
                     /gene_synonym="GALA"
                     /note="hexamer: ATTAAA"
     polyA_site      1318
                     /gene="GLA"
                     /gene_synonym="GALA"
                     /note="major polyA site"
ORIGIN
        1 atgctgtccg gtcaccgtga caatgcagct gaggaaccca gaactacatc tgggctgcgc
       61 gcttgcgctt cgcttcctgg ccctcgtttc ctgggacatc cctggggcta gagcactgga
      121 caatggattg gcaaggacgc ctaccatggg ctggctgcac tgggagcgct tcatgtgcaa
      181 ccttgactgc caggaagagc cagattcctg catcagtgag aagctcttca tggagatggc
      241 agagctcatg gtctcagaag gctggaagga tgcaggttat gagtacctct gcattgatga
      301 ctgttggatg gctccccaaa gagattcaga aggcagactt caggcagacc ctcagcgctt
      361 tcctcatggg attcgccagc tagctaatta tgttcacagc aaaggactga agctagggat
      421 ttatgcagat gttggaaata aaacctgcgc aggcttccct gggagttttg gatactacga
      481 cattgatgcc cagacctttg ctgactgggg agtagatctg ctaaaatttg atggttgtta
      541 ctgtgacagt ttggaaaatt tggcagatgg ttataagcac atgtccttgg ccctgaatag
      601 gactggcaga agcattgtgt actcctgtga gtggcctctt tatatgtggc cctttcaaaa
      661 gcccaattat acagaaatcc gacagtactg caatcactgg cgaaattttg ctgacattga
      721 tgattcctgg aaaagtataa agagtatctt ggactggaca tcttttaacc aggagagaat
      781 tgttgatgtt gctggaccag ggggttggaa tgacccagat atgttagtga ttggcaactt
      841 tggcctcagc tggaatcagc aagtaactca gatggccctc tgggctatca tggctgctcc
      901 tttattcatg tctaatgacc tccgacacat cagccctcaa gccaaagctc tccttcagga
      961 taaggacgta attgccatca atcaggaccc cttgggcaag caagggtacc agcttagaca
     1021 gggagacaac tttgaagtgt gggaacgacc tctctcaggc ttagcctggg ctgtagctat
     1081 gataaaccgg caggagattg gtggacctcg ctcttatacc atcgcagttg cttccctggg
     1141 taaaggagtg gcctgtaatc ctgcctgctt catcacacag ctcctccctg tgaaaaggaa
     1201 gctagggttc tatgaatgga cttcaaggtt aagaagtcac ataaatccca caggcactgt
     1261 tttgcttcag ctagaaaata caatgcagat gtcattaaaa gacttacttt aaaatgtt
//
LOCUS       NM_000170               3843 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens glycine decarboxylase (GLDC), mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_000170
VERSION     NM_000170.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3843)
  AUTHORS   Yu H, Hu X, Zhang Y, Wang J, Ni Z, Wang Y and Zhu H.
  TITLE     GLDC promotes colorectal cancer metastasis through
            epithelial-mesenchymal transition mediated by Hippo signaling
            pathway
  JOURNAL   Med Oncol 40 (10), 293 (2023)
   PUBMED   37668829
  REMARK    GeneRIF: GLDC promotes colorectal cancer metastasis through
            epithelial-mesenchymal transition mediated by Hippo signaling
            pathway. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3843)
  AUTHORS   Krupenko SA, Cole SA, Hou R, Haack K, Laston S, Mehta NR, Comuzzie
            AG, Butte NF and Voruganti VS.
  TITLE     Genetic variants in ALDH1L1 and GLDC influence the serine-to-glycine
            ratio in Hispanic children
  JOURNAL   Am J Clin Nutr 116 (2), 500-510 (2022)
   PUBMED   35460232
  REMARK    GeneRIF: Genetic variants in ALDH1L1 and GLDC influence the
            serine-to-glycine ratio in Hispanic children.
REFERENCE   3  (bases 1 to 3843)
  AUTHORS   Yuan Y, Sun L, Wang X, Chen J, Jia M, Zou Y, Sa H, Cai Y, Xu Y, Sun
            C, Guo Y, Li H and Ma K.
  TITLE     Identification of a new GLDC gene alternative splicing variant and
            its protumorigenic roles in lung cancer
  JOURNAL   Future Oncol 15 (36), 4127-4139 (2019)
   PUBMED   31773974
  REMARK    GeneRIF: we identified a new alternative splicing isoform of GLDC,
            truncated GLDCV1, and demonstrated that GLDCV1 possesses similar
            biological activities to GLDCfl on regulating CSCs and
            tumorigenesis.
REFERENCE   4  (bases 1 to 3843)
  AUTHORS   Alptekin A, Ye B, Yu Y, Poole CJ, van Riggelen J, Zha Y and Ding HF.
  TITLE     Glycine decarboxylase is a transcriptional target of MYCN required
            for neuroblastoma cell proliferation and tumorigenicity
  JOURNAL   Oncogene 38 (50), 7504-7520 (2019)
   PUBMED   31444411
  REMARK    GeneRIF: These findings reveal a critical role of GLDC in sustaining
            the proliferation of neuroblastoma cells with high-level GLDC
            expression and suggest that MYCN amplification is a biomarker for
            GLDC-based therapeutic strategies against high-risk neuroblastoma.
REFERENCE   5  (bases 1 to 3843)
  AUTHORS   Zhuang H, Wu F, Wei W, Dang Y, Yang B, Ma X, Han F and Li Y.
  TITLE     Glycine decarboxylase induces autophagy and is downregulated by
            miRNA-30d-5p in hepatocellular carcinoma
  JOURNAL   Cell Death Dis 10 (3), 192 (2019)
   PUBMED   30804330
  REMARK    GeneRIF: GLDC overexpression significantly induced cell autophagy,
            whereas GLDC downregulation reduced cell autophagy. Of note, GLDC is
            the post-transcriptional target of miR-30d-5p. GLDC overexpression
            could rescue miR-30d-5p-mediated cell metastasis and increase
            autophagy. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3843)
  AUTHORS   Van Hove,J.L.K., Coughlin,C. II, Swanson,M. and Hennermann,J.B.
  TITLE     Nonketotic Hyperglycinemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301531
REFERENCE   7  (bases 1 to 3843)
  AUTHORS   Kure S, Takayanagi M, Narisawa K, Tada K and Leisti J.
  TITLE     Identification of a common mutation in Finnish patients with
            nonketotic hyperglycinemia
  JOURNAL   J Clin Invest 90 (1), 160-164 (1992)
   PUBMED   1634607
REFERENCE   8  (bases 1 to 3843)
  AUTHORS   Kume A, Koyata H, Sakakibara T, Ishiguro Y, Kure S and Hiraga K.
  TITLE     The glycine cleavage system. Molecular cloning of the chicken and
            human glycine decarboxylase cDNAs and some characteristics involved
            in the deduced protein structures
  JOURNAL   J Biol Chem 266 (5), 3323-3329 (1991)
   PUBMED   1993704
REFERENCE   9  (bases 1 to 3843)
  AUTHORS   Kure S, Narisawa K and Tada K.
  TITLE     Structural and expression analyses of normal and mutant mRNA
            encoding glycine decarboxylase: three-base deletion in mRNA causes
            nonketotic hyperglycinemia
  JOURNAL   Biochem Biophys Res Commun 174 (3), 1176-1182 (1991)
   PUBMED   1996985
REFERENCE   10  (bases 1 to 3843)
  AUTHORS   Sakakibara T, Koyata H, Ishiguro Y, Kure S, Kume A, Tada K and
            Hiraga K.
  TITLE     One of the two genomic copies of the glycine decarboxylase cDNA has
            been deleted at a 5' region in a patient with nonketotic
            hyperglycinemia
  JOURNAL   Biochem Biophys Res Commun 173 (3), 801-806 (1990)
   PUBMED   2268343
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: D90239.1, M63635.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000321612.8/ ENSP00000370737.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162411.23, DA741442.1,
            DR002916.1, BC111993.1, AW593954.1 and AI480362.1.
            On Dec 4, 2019 this sequence version replaced NM_000170.2.
            Summary: Degradation of glycine is brought about by the glycine
            cleavage system, which is composed of four mitochondrial protein
            components: P protein (a pyridoxal phosphate-dependent glycine
            decarboxylase), H protein (a lipoic acid-containing protein), T
            protein (a tetrahydrofolate-requiring enzyme), and L protein (a
            lipoamide dehydrogenase). The protein encoded by this gene is the P
            protein, which binds to glycine and enables the methylamine group
            from glycine to be transferred to the T protein. Defects in this
            gene are a cause of nonketotic hyperglycinemia (NKH).[provided by
            RefSeq, Jan 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3843
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.1"
     gene            1..3843
                     /gene="GLDC"
                     /gene_synonym="GCE; GCE1; GCSP; HYGN1"
                     /note="glycine decarboxylase"
                     /db_xref="GeneID:2731"
                     /db_xref="HGNC:HGNC:4313"
                     /db_xref="MIM:238300"
     CDS             231..3293
                     /gene="GLDC"
                     /gene_synonym="GCE; GCE1; GCSP; HYGN1"
                     /EC_number="1.4.4.2"
                     /note="glycine cleavage system protein P; glycine
                     dehydrogenase [decarboxylating], mitochondrial; glycine
                     decarboxylase P-protein; glycine dehydrogenase
                     (aminomethyl-transferring); glycine dehydrogenase
                     (decarboxylating), mitochondrial; nonketotic
                     hyperglycinemia"
                     /codon_start=1
                     /product="glycine dehydrogenase (decarboxylating),
                     mitochondrial precursor"
                     /protein_id="NP_000161.2"
                     /db_xref="CCDS:CCDS34987.1"
                     /db_xref="GeneID:2731"
                     /db_xref="HGNC:HGNC:4313"
                     /db_xref="MIM:238300"
                     /translation="MQSCARAWGLRLGRGVGGGRRLAGGSGPCWAPRSRDSSSGGGDSA
                     AAGASRLLERLLPRHDDFARRHIGPGDKDQREMLQTLGLASIDELIEKTVPANIRLKRP
                     LKMEDPVCENEILATLHAISSKNQIWRSYIGMGYYNCSVPQTILRNLLENSGWITQYTP
                     YQPEVSQGRLESLLNYQTMVCDITGLDMANASLLDEGTAAAEALQLCYRHNKRRKFLVD
                     PRCHPQTIAVVQTRAKYTGVLTELKLPCEMDFSGKDVSGVLFQYPDTEGKVEDFTELVE
                     RAHQSGSLACCATDLLALCILRPPGEFGVDIALGSSQRFGVPLGYGGPHAAFFAVRESL
                     VRMMPGRMVGVTRDATGKEVYRLALQTREQHIRRDKATSNICTAQALLANMAAMFAIYH
                     GSHGLEHIARRVHNATLILSEGLKRAGHQLQHDLFFDTLKIQCGCSVKEVLGRAAQRQI
                     NFRLFEDGTLGISLDETVNEKDLDDLLWIFGCESSAELVAESMGEECRGIPGSVFKRTS
                     PFLTHQVFNSYHSETNIVRYMKKLENKDISLVHSMIPLGSCTMKLNSSSELAPITWKEF
                     ANIHPFVPLDQAQGYQQLFRELEKDLCELTGYDQVCFQPNSGAQGEYAGLATIRAYLNQ
                     KGEGHRTVCLIPKSAHGTNPASAHMAGMKIQPVEVDKYGNIDAVHLKAMVDKHKENLAA
                     IMITYPSTNGVFEENISDVCDLIHQHGGQVYLDGANMNAQVGICRPGDFGSDVSHLNLH
                     KTFCIPHGGGGPGMGPIGVKKHLAPFLPNHPVISLKRNEDACPVGTVSAAPWGSSSILP
                     ISWAYIKMMGGKGLKQATETAILNANYMAKRLETHYRILFRGARGYVGHEFILDTRPFK
                     KSANIEAVDVAKRLQDYGFHAPTMSWPVAGTLMVEPTESEDKAELDRFCDAMISIRQEI
                     ADIEEGRIDPRVNPLKMSPHSLTCVTSSHWDRPYSREVAAFPLPFVKPENKFWPTIARI
                     DDIYGDQHLVCTCPPMEVYESPFSEQKRASS"
     transit_peptide 231..335
                     /gene="GLDC"
                     /gene_synonym="GCE; GCE1; GCSP; HYGN1"
     misc_feature    291..368
                     /gene="GLDC"
                     /gene_synonym="GCE; GCE1; GCSP; HYGN1"
                     /note="propagated from UniProtKB/Swiss-Prot (P23378.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     336..3290
                     /gene="GLDC"
                     /gene_synonym="GCE; GCE1; GCSP; HYGN1"
                     /product="glycine dehydrogenase (decarboxylating),
                     mitochondrial"
     misc_feature    1569..1571
                     /gene="GLDC"
                     /gene_synonym="GCE; GCE1; GCSP; HYGN1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q91W43; propagated from
                     UniProtKB/Swiss-Prot (P23378.2); acetylation site"
     misc_feature    1770..1772
                     /gene="GLDC"
                     /gene_synonym="GCE; GCE1; GCSP; HYGN1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q91W43; propagated from
                     UniProtKB/Swiss-Prot (P23378.2); acetylation site"
     misc_feature    2172..2174
                     /gene="GLDC"
                     /gene_synonym="GCE; GCE1; GCSP; HYGN1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q91W43; propagated from
                     UniProtKB/Swiss-Prot (P23378.2); acetylation site"
     misc_feature    2220..2222
                     /gene="GLDC"
                     /gene_synonym="GCE; GCE1; GCSP; HYGN1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q91W43; propagated from
                     UniProtKB/Swiss-Prot (P23378.2); acetylation site"
     regulatory      3822..3827
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLDC"
                     /gene_synonym="GCE; GCE1; GCSP; HYGN1"
                     /note="hexamer: AATAAA"
     polyA_site      3843
                     /gene="GLDC"
                     /gene_synonym="GCE; GCE1; GCSP; HYGN1"
                     /note="major polyA site"
ORIGIN
        1 aaagtgtgcg gagcaggtgc cttgggtgga gccacaactt tgcgcgagtg tcttggttga
       61 gcgcagcgcc cattcattgc ccgcgagcgt ccatccatct gtccggccga ctgtccagcg
      121 aaaggggctc caggccgggc gcagccgcca cccgggggac cgaggccagg agaggggcca
      181 agagcgcggc tgacccttgc gggccggggc aggggacggt ggccgcggcc atgcagtcct
      241 gtgccagggc gtgggggctg cgcctgggcc gcggggtcgg gggcggccgc cgcctggctg
      301 ggggatcggg gccgtgctgg gcgccgcgga gccgggacag cagcagtggc ggcggggaca
      361 gcgccgcggc tggggcctcg cgcctcctgg agcgccttct gcccagacac gacgacttcg
      421 ctcggaggca catcggccct ggggacaaag accagagaga gatgctgcag accttggggc
      481 tggcgagcat tgatgaattg atcgagaaga cggtccctgc caacatccgt ttgaaaagac
      541 ccttgaaaat ggaagaccct gtttgtgaaa atgaaatcct tgcaactctg catgccattt
      601 caagcaaaaa ccagatctgg agatcgtata ttggcatggg ctattataac tgctcagtgc
      661 cacagacgat tttgcggaac ttactggaga actcaggatg gatcacccag tatactccat
      721 accagcctga ggtgtctcag gggaggctgg agagtttact caactaccag accatggtgt
      781 gtgacatcac aggcctggac atggccaatg catccctgct ggatgagggg actgcagccg
      841 cagaggcact gcagctgtgc tacagacaca acaagaggag gaaatttctc gttgatcccc
      901 gttgccaccc acagacaata gctgttgtcc agactcgagc caaatatact ggagtcctca
      961 ctgagctgaa gttaccctgt gaaatggact tcagtggaaa agatgtcagt ggagtgttgt
     1021 tccagtaccc agacacggag gggaaggtgg aagactttac ggaactcgtg gagagagctc
     1081 atcagagtgg gagcctggcc tgctgtgcta ctgacctttt agctttgtgc atcttgaggc
     1141 cacctggaga atttggggta gacatcgccc tgggcagctc ccagagattt ggagtgccac
     1201 tgggctatgg gggaccccat gcagcatttt ttgctgtccg agaaagcttg gtgagaatga
     1261 tgcctggaag aatggtgggg gtaacaagag atgccactgg gaaagaagtg tatcgtcttg
     1321 ctcttcaaac cagggagcaa cacattcgga gagacaaggc taccagcaac atctgtacag
     1381 ctcaggccct cttggcgaat atggctgcca tgtttgcaat ctaccatggt tcccatgggc
     1441 tggagcatat tgctaggagg gtacataatg ccactttgat tttgtcagaa ggtctcaagc
     1501 gagcagggca tcaactccag catgacctgt tctttgatac cttgaagatt cagtgtggct
     1561 gctcagtgaa ggaggtcttg ggcagggccg ctcagcggca gatcaatttt cggctttttg
     1621 aggatggcac acttggtatt tctcttgatg aaacagtcaa tgaaaaagat ctggacgatt
     1681 tgttgtggat ctttggttgt gagtcatctg cagaactggt tgctgaaagc atgggagagg
     1741 agtgcagagg tattccaggg tctgtgttca agaggaccag cccgttcctc acccatcaag
     1801 tgttcaacag ctaccactct gaaacaaaca ttgtccggta catgaagaaa ctggaaaata
     1861 aagacatttc ccttgttcac agcatgattc cactgggatc ctgcaccatg aaactgaaca
     1921 gttcgtctga actcgcacct atcacatgga aagaatttgc aaacatccac ccctttgtgc
     1981 ctctggatca agctcaagga tatcagcagc ttttccgaga gcttgagaag gatttgtgtg
     2041 aactcacagg ttatgaccag gtctgtttcc agccaaacag cggagcccag ggagaatatg
     2101 ctggactggc cactatccga gcctacttaa accagaaagg agaggggcac agaacggttt
     2161 gcctcattcc gaaatcagca catgggacca acccagcaag tgcccacatg gcaggcatga
     2221 agattcagcc tgtggaggtg gataaatatg ggaatatcga tgcagttcac ctcaaggcca
     2281 tggtggataa gcacaaggag aacctagcag ctatcatgat tacataccca tccaccaatg
     2341 gggtgtttga agagaacatc agtgacgtgt gtgacctcat ccatcaacat ggaggacagg
     2401 tctacctaga cggggcaaat atgaatgctc aggtgggaat ctgtcgccct ggagacttcg
     2461 ggtctgatgt ctcgcaccta aatcttcaca agaccttctg cattccccac ggaggaggtg
     2521 gtcctggcat ggggcccatc ggagtgaaga aacatctcgc cccgtttttg cccaatcatc
     2581 ccgtcatttc actaaagcgg aatgaggatg cctgtcctgt gggaaccgtc agtgcggccc
     2641 catggggctc cagttccatc ttgcccattt cctgggctta tatcaagatg atgggaggca
     2701 agggtcttaa acaagccacg gaaactgcga tattaaatgc caactacatg gccaagcgat
     2761 tagaaacaca ctacagaatt cttttcaggg gtgcaagagg ttatgtgggt catgaattta
     2821 ttttggacac gagacccttc aaaaagtctg caaatattga ggctgtggat gtggccaaga
     2881 gactccagga ttatggattt cacgccccta ccatgtcctg gcctgtggca gggaccctca
     2941 tggtggagcc cactgagtcg gaggacaagg cagagctgga cagattctgt gatgccatga
     3001 tcagcattcg gcaggaaatt gctgacattg aggagggccg catcgacccc agggtcaatc
     3061 cgctgaagat gtctccacac tccctgacct gcgttacatc ttcccactgg gaccggcctt
     3121 attccagaga ggtggcagca ttcccactcc ccttcgtgaa accagagaac aaattctggc
     3181 caacgattgc ccggattgat gacatatatg gagatcagca cctggtttgt acctgcccac
     3241 ccatggaagt ttatgagtct ccattttctg aacaaaagag ggcgtcttct tagtcctctg
     3301 tccctaagtt taaaggactg atttgatgcc tctccccaga gcatttgata agcaagaaag
     3361 atttcatctc ccaccccagc ctcaagtagg agttttatat actgtgtata tctctgtaat
     3421 ctctgtcaag gtaaatgtaa atacagtagc tggagggagt cgaagctgat ggttggaaga
     3481 cggatttgct ttggtattct gcttccacat gtgccagttg cctggattgg gagccatttt
     3541 gtgttttgcg tagaaagttt taggaacttt aacttttaat gtggcaagtt tgcagatgtc
     3601 atagaggcta tcctggagac ttaatagaca tttttttgtt ccaaaagagt ccatgtggac
     3661 tgtgccatct gtgggaaatc ccagggcaaa tgtttacatt ttgtataccc tgaagaactc
     3721 tttttcctct aatatgccta atctgtaatc acatttctga gtgttctcct ctttttctgt
     3781 gtgaggtttt ttttttttta atctgcattt attagtattc taataaaagc atcttgatcg
     3841 gaa
//
LOCUS       NM_000171               1812 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens glycine receptor alpha 1 (GLRA1), transcript variant 2,
            mRNA.
ACCESSION   NM_000171
VERSION     NM_000171.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1812)
  AUTHORS   Tezen D, Simsir G, Cokar O, Demirbilek V, Basak AN and Yapici Z.
  TITLE     Four Turkish families with hyperekplexia: A missense mutation and
            the exon 1-7 deletion in the GLRA1 gene
  JOURNAL   Parkinsonism Relat Disord 105, 128-131 (2022)
   PUBMED   36434917
  REMARK    GeneRIF: Four Turkish families with hyperekplexia: A missense
            mutation and the exon 1-7 deletion in the GLRA1 gene.
REFERENCE   2  (bases 1 to 1812)
  AUTHORS   Aboheimed GI, AlRasheed MM, Almudimeegh S, Pena-Guerra KA,
            Cardona-Londono KJ, Salih MA, Seidahmed MZ, Al-Mohanna F, Colak D,
            Harvey RJ, Harvey K, Arold ST, Kaya N and Ruiz AJ.
  TITLE     Clinical, genetic, and functional characterization of the glycine
            receptor beta-subunit A455P variant in a family affected by
            hyperekplexia syndrome
  JOURNAL   J Biol Chem 298 (7), 102018 (2022)
   PUBMED   35526563
REFERENCE   3  (bases 1 to 1812)
  AUTHORS   Wu Z, Lape R, Jopp-Saile L, O'Callaghan BJ, Greiner T and Sivilotti
            LG.
  TITLE     The startle disease mutation alpha1S270T predicts shortening of
            glycinergic synaptic currents
  JOURNAL   J Physiol 598 (16), 3417-3438 (2020)
   PUBMED   32445491
  REMARK    GeneRIF: The startle disease mutation alpha1S270T predicts
            shortening of glycinergic synaptic currents.
REFERENCE   4  (bases 1 to 1812)
  AUTHORS   Langlhofer G, Schaefer N, Maric HM, Keramidas A, Zhang Y, Baumann P,
            Blum R, Breitinger U, Stromgaard K, Schlosser A, Kessels MM, Koch D,
            Qualmann B, Breitinger HG, Lynch JW and Villmann C.
  TITLE     A Novel Glycine Receptor Variant with Startle Disease Affects
            Syndapin I and Glycinergic Inhibition
  JOURNAL   J Neurosci 40 (25), 4954-4969 (2020)
   PUBMED   32354853
  REMARK    GeneRIF: A Novel Glycine Receptor Variant with Startle Disease
            Affects Syndapin I and Glycinergic Inhibition.
REFERENCE   5  (bases 1 to 1812)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1812)
  AUTHORS   Balint,B. and Thomas,R.
  TITLE     Hereditary Hyperekplexia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301437
REFERENCE   7  (bases 1 to 1812)
  AUTHORS   Ryan SG, Dixon MJ, Nigro MA, Kelts KA, Markand ON, Terry JC, Shiang
            R, Wasmuth JJ and O'Connell P.
  TITLE     Genetic and radiation hybrid mapping of the hyperekplexia region on
            chromosome 5q
  JOURNAL   Am J Hum Genet 51 (6), 1334-1343 (1992)
   PUBMED   1334371
REFERENCE   8  (bases 1 to 1812)
  AUTHORS   Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres MC and Mackey RW.
  TITLE     Startle disease, or hyperekplexia: response to clonazepam and
            assignment of the gene (STHE) to chromosome 5q by linkage analysis
  JOURNAL   Ann Neurol 31 (6), 663-668 (1992)
   PUBMED   1355335
REFERENCE   9  (bases 1 to 1812)
  AUTHORS   Ruiz-Gomez A, Vaello ML, Valdivieso F and Mayor F Jr.
  TITLE     Phosphorylation of the 48-kDa subunit of the glycine receptor by
            protein kinase C
  JOURNAL   J Biol Chem 266 (1), 559-566 (1991)
   PUBMED   1845981
REFERENCE   10  (bases 1 to 1812)
  AUTHORS   Grenningloh G, Schmieden V, Schofield PR, Seeburg PH, Siddique T,
            Mohandas TK, Becker CM and Betz H.
  TITLE     Alpha subunit variants of the human glycine receptor: primary
            structures, functional expression and chromosomal localization of
            the corresponding genes
  JOURNAL   EMBO J 9 (3), 771-776 (1990)
   PUBMED   2155780
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK312702.1, BC074980.2 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968968, SAMEA2142670
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000274576.9/ ENSP00000274576.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010312.5, X52009.1,
            AK312702.1, BC074980.2 and AK226046.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000171.3.
            Summary: The protein encoded by this gene is a subunit of a
            pentameric inhibitory glycine receptor, which mediates postsynaptic
            inhibition in the central nervous system. Defects in this gene are
            a cause of startle disease (STHE), also known as hereditary
            hyperekplexia or congenital stiff-person syndrome. Multiple
            transcript variants encoding different isoforms have been found.
            [provided by RefSeq, Dec 2015].
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site at the 5' end of the last exon compared to variant 1.
            The resulting isoform (2) has the same N- and C-termini but is
            shorter compared to isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1812
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.1"
     gene            1..1812
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /note="glycine receptor alpha 1"
                     /db_xref="GeneID:2741"
                     /db_xref="HGNC:HGNC:4326"
                     /db_xref="MIM:138491"
     misc_feature    297..299
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /note="upstream in-frame stop codon"
     CDS             303..1652
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; glycine receptor subunit alpha-1; glycine receptor 48
                     kDa subunit; glycine receptor strychnine-binding subunit"
                     /codon_start=1
                     /product="glycine receptor subunit alpha-1 isoform 2
                     precursor"
                     /protein_id="NP_000162.2"
                     /db_xref="CCDS:CCDS4320.1"
                     /db_xref="GeneID:2741"
                     /db_xref="HGNC:HGNC:4326"
                     /db_xref="MIM:138491"
                     /translation="MYSFNTLRLYLWETIVFFSLAASKEAEAARSAPKPMSPSDFLDKL
                     MGRTSGYDARIRPNFKGPPVNVSCNIFINSFGSIAETTMDYRVNIFLRQQWNDPRLAYN
                     EYPDDSLDLDPSMLDSIWKPDLFFANEKGAHFHEITTDNKLLRISRNGNVLYSIRITLT
                     LACPMDLKNFPMDVQTCIMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKD
                     LRYCTKHYNTGKFTCIEARFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARV
                     GLGITTVLTMTTQSSGSRASLPKVSYVKAIDIWMAVCLLFVFSALLEYAAVNFVSRQHK
                     ELLRFRRKRRHHKEDEAGEGRFNFSAYGMGPACLQAKDGISVKGANNSNTTNPPPAPSK
                     SPEEMRKLFIQRAKKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ"
     sig_peptide     303..386
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    498..500
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P23415.2); glycosylation site"
     misc_feature    1053..1118
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /note="propagated from UniProtKB/Swiss-Prot (P23415.2);
                     transmembrane region"
     misc_feature    1134..1196
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /note="propagated from UniProtKB/Swiss-Prot (P23415.2);
                     transmembrane region"
     misc_feature    1167..1169
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /note="Important for obstruction of the ion pore in the
                     closed conformation. /evidence=ECO:0000269|PubMed:25730860;
                     propagated from UniProtKB/Swiss-Prot (P23415.2); other
                     site"
     misc_feature    1230..1292
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /note="propagated from UniProtKB/Swiss-Prot (P23415.2);
                     transmembrane region"
     misc_feature    1449..1508
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /note="propagated from UniProtKB/Swiss-Prot (P23415.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1554..1616
                     /gene="GLRA1"
                     /gene_synonym="HKPX1; STHE"
                     /note="propagated from UniProtKB/Swiss-Prot (P23415.2);
                     transmembrane region"
ORIGIN
        1 agcgccgcag ggagccaaca gacacgctgg agtttaacaa acagcaatac tcttcgcgct
       61 cctgaaaagc aggtctggac gctctccgtg gtgctgaaac gcctcgcagc cgccgctgtc
      121 cgtggtatct acgaccccct cgctccaatt tcccctgggg ctctccctcc gcgcccctgt
      181 tccccgcctc cctttaacat ctggattatt ttttgcaata gcgctttctg gttttgtaag
      241 tgccaatttg aaacattttt gcccccataa ctcgtggact acaaagcaca aggacctgaa
      301 aaatgtacag cttcaatact cttcgactct acctttggga gaccattgta ttcttcagcc
      361 ttgctgcttc taaggaggct gaagctgctc gctccgcacc caagcctatg tcaccctcgg
      421 atttcctgga taagctaatg gggagaacct ccggatatga tgccaggatc aggcccaatt
      481 ttaaaggtcc cccagtgaac gtgagctgca acattttcat caacagcttt ggttccattg
      541 ctgagacaac catggactat agggtcaaca tcttcctgcg gcagcaatgg aacgaccccc
      601 gcctggccta taatgaatac cctgacgact ctctggacct ggacccatcc atgctggact
      661 ccatctggaa acctgacctg ttctttgcca acgagaaggg ggcccacttc catgagatca
      721 ccacagacaa caaattgcta aggatctccc ggaatgggaa tgtcctctac agcatcagaa
      781 tcaccctgac actggcctgc cccatggact tgaagaattt ccccatggat gtccagacat
      841 gtatcatgca actggaaagc tttggatata cgatgaatga cctcatcttt gagtggcagg
      901 aacagggagc cgtgcaggta gcagatggac taactctgcc ccagtttatc ttgaaggaag
      961 agaaggactt gagatactgc accaagcact acaacacagg taaattcacc tgcattgagg
     1021 cccggttcca cctggagcgg cagatgggtt actacctgat tcagatgtat attcccagcc
     1081 tgctcattgt catcctctca tggatctcct tctggatcaa catggatgct gcacctgctc
     1141 gtgtgggcct aggcatcacc actgtgctca ccatgaccac ccagagctcc ggctctcgag
     1201 catctctgcc caaggtgtcc tatgtgaaag ccattgacat ttggatggca gtttgcctgc
     1261 tctttgtgtt ctcagcccta ttagaatatg ctgccgttaa ctttgtgtct cggcaacata
     1321 aggagctgct ccgattcagg aggaagcgga gacatcacaa ggaggatgaa gctggagaag
     1381 gccgctttaa cttctctgcc tatgggatgg gcccagcctg tctacaggcc aaggatggca
     1441 tctcagtcaa gggcgccaac aacagtaaca ccaccaaccc ccctcctgca ccatctaagt
     1501 ccccagagga gatgcgaaaa ctcttcatcc agagggccaa gaagatcgac aaaatatccc
     1561 gcattggctt ccccatggcc ttcctcattt tcaacatgtt ctactggatc atctacaaga
     1621 ttgtccgtag agaggacgtc cacaaccagt gaagggtctg aaaggttggg ggaggctggg
     1681 agaggggaac gtgggaatag cacaggaatc tgagagacta aggaagagaa ggggaacgga
     1741 gggagggggc acacttacac aactctctct gcaatatgtg caatagcaaa atgcagtgat
     1801 gcatgaattt ta
//
LOCUS       NM_000173               2514 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens glycoprotein Ib platelet subunit alpha (GP1BA), mRNA.
ACCESSION   NM_000173
VERSION     NM_000173.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2514)
  AUTHORS   Zaid Y, Khalki L, Jalali F, Tijani Y, Zaid N, Naya A, Oudghiri M,
            Akarid K, Agbani EO and Guessous F.
  TITLE     Low alpha-Thrombin/GPIbalpha Interaction Is a Potential Contributor
            to Platelet Hyper-reactivity in COVID-19 Patients
  JOURNAL   Thromb Haemost 123 (8), 804-807 (2023)
   PUBMED   37044132
  REMARK    GeneRIF: Low alpha-Thrombin/GPIbalpha Interaction Is a Potential
            Contributor to Platelet Hyper-reactivity in COVID-19 Patients.
REFERENCE   2  (bases 1 to 2514)
  AUTHORS   Hollenhorst MA, Tiemeyer KH, Mahoney KE, Aoki K, Ishihara M, Lowery
            SC, Rangel-Angarita V, Bertozzi CR and Malaker SA.
  TITLE     Comprehensive analysis of platelet glycoprotein Ibalpha ectodomain
            glycosylation
  JOURNAL   J Thromb Haemost 21 (4), 995-1009 (2023)
   PUBMED   36740532
  REMARK    GeneRIF: Comprehensive analysis of platelet glycoprotein Ibalpha
            ectodomain glycosylation.
REFERENCE   3  (bases 1 to 2514)
  AUTHORS   Shi TT, Liu HY, Zhu XR, Xin Z, Hua L, Xie RR, Sun R, Cao X and Yang
            JK.
  TITLE     Integrated Proteomics and Metabolomics Analyses of Serum in Chinese
            Patients with Severe and Active Graves' Orbitopathy: A
            Cross-sectional Study
  JOURNAL   Endocr Metab Immune Disord Drug Targets 23 (9), 1151-1161 (2023)
   PUBMED   36809953
  REMARK    GeneRIF: Integrated Proteomics and Metabolomics Analyses of Serum in
            Chinese Patients with Severe and Active Graves' Orbitopathy: A
            Cross-sectional Study.
REFERENCE   4  (bases 1 to 2514)
  AUTHORS   Dib F, Quemener A, Bayart S, Boisseau P, Babuty A, Trossaert M,
            Sigaud M, Ternisien C, Drillaud N, Eveillard M, Guillet B, Bene MC
            and Fouassier M.
  TITLE     Biological, clinical features and modelling of heterozygous variants
            of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein
            Ib platelet subunit beta (GP1BB) genes responsible for
            constitutional thrombocytopenia
  JOURNAL   Br J Haematol 199 (5), 744-753 (2022)
   PUBMED   36173017
  REMARK    GeneRIF: Biological, clinical features and modelling of heterozygous
            variants of glycoprotein Ib platelet subunit alpha (GP1BA) and
            glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for
            constitutional thrombocytopenia.
REFERENCE   5  (bases 1 to 2514)
  AUTHORS   Murata M, Furihata K, Ishida F, Russell SR, Ware J and Ruggeri ZM.
  TITLE     Genetic and structural characterization of an amino acid dimorphism
            in glycoprotein Ib alpha involved in platelet transfusion
            refractoriness
  JOURNAL   Blood 79 (11), 3086-3090 (1992)
   PUBMED   1586750
REFERENCE   6  (bases 1 to 2514)
  AUTHORS   Lopez JA, Ludwig EH and McCarthy BJ.
  TITLE     Polymorphism of human glycoprotein Ib alpha results from a variable
            number of tandem repeats of a 13-amino acid sequence in the
            mucin-like macroglycopeptide region. Structure/function implications
  JOURNAL   J Biol Chem 267 (14), 10055-10061 (1992)
   PUBMED   1577776
REFERENCE   7  (bases 1 to 2514)
  AUTHORS   Miller JL, Lyle VA and Cunningham D.
  TITLE     Mutation of leucine-57 to phenylalanine in a platelet glycoprotein
            Ib alpha leucine tandem repeat occurring in patients with an
            autosomal dominant variant of Bernard-Soulier disease
  JOURNAL   Blood 79 (2), 439-446 (1992)
   PUBMED   1730088
REFERENCE   8  (bases 1 to 2514)
  AUTHORS   Modderman PW, Admiraal LG, Sonnenberg A and von dem Borne AE.
  TITLE     Glycoproteins V and Ib-IX form a noncovalent complex in the platelet
            membrane
  JOURNAL   J Biol Chem 267 (1), 364-369 (1992)
   PUBMED   1730602
REFERENCE   9  (bases 1 to 2514)
  AUTHORS   Girma JP, Takahashi Y, Yoshioka A, Diaz J and Meyer D.
  TITLE     Ristocetin and botrocetin involve two distinct domains of von
            Willebrand factor for binding to platelet membrane glycoprotein Ib
  JOURNAL   Thromb Haemost 64 (2), 326-332 (1990)
   PUBMED   1702906
REFERENCE   10  (bases 1 to 2514)
  AUTHORS   Titani,K., Takio,K., Handa,M. and Ruggeri,Z.M.
  TITLE     Amino acid sequence of the von Willebrand factor-binding domain of
            platelet membrane glycoprotein Ib
  JOURNAL   Proc Natl Acad Sci U S A 84 (16), 5610-5614 (1987)
   PUBMED   3497398
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: KC120774.1, KC120776.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: downstream AUG is associated
            with N-terminal localization signal (PMID:3497398)
            MANE Ensembl match :: ENST00000329125.6/ ENSP00000329380.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY099146.1, KC120774.1 and
            BC027955.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000173.6.
            Summary: Glycoprotein Ib (GP Ib) is a platelet surface membrane
            glycoprotein composed of a heterodimer, an alpha chain and a beta
            chain, that is linked by disulfide bonds. The Gp Ib functions as a
            receptor for von Willebrand factor (VWF). The complete receptor
            complex includes noncovalent association of the alpha and beta
            subunits with platelet glycoprotein IX and platelet glycoprotein V.
            The binding of the GP Ib-IX-V complex to VWF facilitates initial
            platelet adhesion to vascular subendothelium after vascular injury,
            and also initiates signaling events within the platelet that lead
            to enhanced platelet activation, thrombosis, and hemostasis. This
            gene encodes the alpha subunit. Mutations in this gene result in
            Bernard-Soulier syndromes and platelet-type von Willebrand disease.
            The coding region of this gene is known to contain a polymophic
            variable number tandem repeat (VNTR) domain that is associated with
            susceptibility to nonarteritic anterior ischemic optic neuropathy.
            [provided by RefSeq, Oct 2013].
            CCDS Note: The coding region has been updated to include an
            additional segment in the coding region. This region corresponds to
            a tandem repeat encoding a 13 aa segment, which is present 3 times
            in the reference genome sequence. These tandem repeats are
            described in PMID:1577776. It should be noted that the majority of
            available transcript data represent an allele lacking one or more
            of these repeats, whereas this update represents the number of
            repeats found in the reference genome sequence.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2514
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..2514
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="glycoprotein Ib platelet subunit alpha"
                     /db_xref="GeneID:2811"
                     /db_xref="HGNC:HGNC:4439"
                     /db_xref="MIM:606672"
     misc_feature    9..11
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MGLEERRTESSGTLEDALCLRRSFCLPVL"
     CDS             96..2054
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="platelet membrane glycoprotein 1b-alpha subunit;
                     platelet glycoprotein Ib alpha chain; glycoprotein Ib
                     platelet alpha subunit; GP-Ib alpha; glycoprotein Ib
                     (platelet), alpha polypeptide; antigen CD42b-alpha;
                     platelet membrane glycoprotein Ib-alpha; mutant platelet
                     membrane glycoprotein Ib-alpha"
                     /codon_start=1
                     /product="platelet glycoprotein Ib alpha chain precursor"
                     /protein_id="NP_000164.5"
                     /db_xref="CCDS:CCDS54068.1"
                     /db_xref="GeneID:2811"
                     /db_xref="HGNC:HGNC:4439"
                     /db_xref="MIM:606672"
                     /translation="MPLLLLLLLLPSPLHPHPICEVSKVASHLEVNCDKRNLTALPPDL
                     PKDTTILHLSENLLYTFSLATLMPYTRLTQLNLDRCELTKLQVDGTLPVLGTLDLSHNQ
                     LQSLPLLGQTLPALTVLDVSFNRLTSLPLGALRGLGELQELYLKGNELKTLPPGLLTPT
                     PKLEKLSLANNNLTELPAGLLNGLENLDTLLLQENSLYTIPKGFFGSHLLPFAFLHGNP
                     WLCNCEILYFRRWLQDNAENVYVWKQGVDVKAMTSNVASVQCDNSDKFPVYKYPGKGCP
                     TLGDEGDTDLYDYYPEEDTEGDKVRATRTVVKFPTKAHTTPWGLFYSWSTASLDSQMPS
                     SLHPTQESTKEQTTFPPRWTPNFTLHMESITFSKTPKSTTEPTPSPTTSEPVPEPAPNM
                     TTLEPTPSPTTPEPTSEPAPSPTTPEPTSEPAPSPTTPEPTSEPAPSPTTPEPTPIPTI
                     ATSPTILVSATSLITPKSTFLTTTKPVSLLESTKKTIPELDQPPKLRGVLQGHLESSRN
                     DPFLHPDFCCLLPLGFYVLGLFWLLFASVVLILLLSWVGHVKPQALDSGQGAALTTATQ
                     TTHLELQRGRQVTVPRAWLLFLRGSLPTFRSSLFLWVRPNGRVGPLVAGRRPSALSQGR
                     GQDLLSTVSIRYSGHSL"
     sig_peptide     96..143
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     144..2051
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /product="Platelet glycoprotein Ib alpha chain.
                     /id=PRO_0000021343"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2)"
     mat_peptide     144..1613
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /product="Glycocalicin.
                     /evidence=ECO:0000269|PubMed:17445093. /id=PRO_0000021344"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2)"
     misc_feature    204..206
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16263699,
                     ECO:0000269|PubMed:3497398, ECO:0000269|PubMed:36740532;
                     propagated from UniProtKB/Swiss-Prot (P07359.2);
                     glycosylation site"
     misc_feature    237..299
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     Region: LRR 1"
     misc_feature    309..374
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     Region: LRR 2"
     misc_feature    375..440
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     Region: LRR 3"
     misc_feature    444..506
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     Region: LRR 4"
     misc_feature    516..581
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     Region: LRR 5"
     misc_feature    588..653
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     Region: LRR 6"
     misc_feature    618..620
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:3497398; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    660..725
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     Region: LRR 7"
     misc_feature    969..971
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:12087105; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); sulfatation site"
     misc_feature    975..977
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:12087105; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); sulfatation site"
     misc_feature    978..980
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:12087105; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); sulfatation site"
     misc_feature    1017..1019
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3497398,
                     ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1041..1043
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1053..1055
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1056..1058
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1077..1079
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1086..1088
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1101..1472
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1113..1115
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1116..1118
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1128..1130
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1152..1154
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1155..1157
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1173..1175
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1185..1187
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1200..1202
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1206..1208
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1212..1214
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1230..1232
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1233..1235
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1242..1244
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1248..1250
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1254..1256
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1257..1259
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1260..1262
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1293..1295
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1296..1298
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1308..1310
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1452..1454
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1464..1466
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1473..1475
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1476..1478
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1482..1484
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1494..1496
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1500..1502
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1512..1514
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1524..1526
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1533..1535
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1536..1538
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1539..1541
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1551..1553
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1563..1565
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1566..1568
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1575..1577
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:36740532; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); glycosylation site"
     misc_feature    1611..1616
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="Cleavage, by ADAM17.
                     /evidence=ECO:0000269|PubMed:17445093; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); cleavage site"
     misc_feature    1689..1751
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     transmembrane region"
     misc_feature    1980..1982
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); phosphorylation site"
     misc_feature    1989..1991
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087; propagated from
                     UniProtKB/Swiss-Prot (P07359.2); phosphorylation site"
ORIGIN
        1 agtcctccat ggggctagaa gagagaagga cggagtcgag tggcacccta gaagacgctc
       61 tgtgccttcg gaggtctttc tgcctgcctg tcctcatgcc tctcctcctc ttgctgctcc
      121 tgctgccaag ccccttacac ccccacccca tctgtgaggt ctccaaagtg gccagccacc
      181 tagaagtgaa ctgtgacaag aggaatctga cagcgctgcc tccagacctg ccgaaagaca
      241 caaccatcct ccacctgagt gagaacctcc tgtacacctt ctccctggca accctgatgc
      301 cttacactcg cctcactcag ctgaacctag ataggtgcga gctcaccaag ctccaggtcg
      361 atgggacgct gccagtgctg gggaccctgg atctatccca caatcagctg caaagcctgc
      421 ccttgctagg gcagacactg cctgctctca ccgtcctgga cgtctccttc aaccggctga
      481 cctcgctgcc tcttggtgcc ctgcgtggtc ttggcgaact ccaagagctc tacctgaaag
      541 gcaatgagct gaagaccctg cccccagggc tcctgacgcc cacacccaag ctggagaagc
      601 tcagtctggc taacaacaac ttgactgagc tccccgctgg gctcctgaat gggctggaga
      661 atctcgacac ccttctcctc caagagaact cgctgtatac aataccaaag ggcttttttg
      721 ggtcccacct cctgcctttt gcttttctcc acgggaaccc ctggttatgc aactgtgaga
      781 tcctctattt tcgtcgctgg ctgcaggaca atgctgaaaa tgtctacgta tggaagcaag
      841 gtgtggacgt caaggccatg acctctaacg tggccagtgt gcagtgtgac aattcagaca
      901 agtttcccgt ctacaaatac ccaggaaagg ggtgccccac ccttggtgat gaaggtgaca
      961 cagacctata tgattactac ccagaagagg acactgaggg cgataaggtg cgtgccacaa
     1021 ggactgtggt caagttcccc accaaagccc atacaacccc ctggggtcta ttctactcat
     1081 ggtccactgc ttctctagac agccaaatgc cctcctcctt gcatccaaca caagaatcca
     1141 ctaaggagca gaccacattc ccacctagat ggaccccaaa tttcacactt cacatggaat
     1201 ccatcacatt ctccaaaact ccaaaatcca ctactgaacc aaccccaagc ccgaccacct
     1261 cagagcccgt cccggagccc gccccaaaca tgaccaccct ggagcccact ccaagcccga
     1321 ccaccccaga gcccacctca gagcccgccc ccagcccgac caccccggag cccacctcag
     1381 agcccgcccc cagcccgacc accccagagc ccacctcaga gcccgccccc agcccgacca
     1441 ccccggagcc caccccaatc ccgaccatcg ccacaagccc gaccatcctg gtgtctgcca
     1501 caagcctgat cactccaaaa agcacatttt taactaccac aaaacccgta tcactcttag
     1561 aatccaccaa aaaaaccatc cctgaacttg atcagccacc aaagctccgt ggggtgctcc
     1621 aagggcattt ggagagctcc agaaatgacc cttttctcca ccccgacttt tgctgcctcc
     1681 tccccctggg cttctatgtc ttgggtctct tctggctgct ctttgcctct gtggtcctca
     1741 tcctgctgct gagctgggtt gggcatgtga aaccacaggc cctggactct ggccaaggtg
     1801 ctgctctgac cacagccaca caaaccacac acctggagct gcagagggga cggcaagtga
     1861 cagtgccccg ggcctggctg ctcttccttc gaggttcgct tcccactttc cgctccagcc
     1921 tcttcctgtg ggtacggcct aatggccgtg tggggcctct agtggcagga aggaggccct
     1981 cagctctgag tcagggtcgt ggtcaggacc tgctgagcac agtgagcatt aggtactctg
     2041 gccacagcct ctgagggtgg gaggtttggg gaccttgaga gaagagcctg tgggctctcc
     2101 tattggaatc tagttggggg ttggaggggt aaggaacaca gggtgatagg gaggggtctt
     2161 agttcctttt tctgtatcag aagccctgtc ttcacaacac aggcacacaa tttcagtccc
     2221 agccaaagca gaaggggtaa tgacatggac ttggcggggg gacaagacaa agctcccgat
     2281 gctgcatggg gcgctgccag atctcacggt gaaccatttt ggcagaatac agcatggttc
     2341 ccacatgcat ctatgcacag aagaaaatct ggaaagtgat ttatcaggat gtgagcactc
     2401 gttgtgtctg gatgttacaa atatgggtgg ttttattttc tttttccctg tttagcattt
     2461 tctagttttc cactattatt gtatattatc tgtataataa aaaataattt tagg
//
LOCUS       NM_000174                877 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens glycoprotein IX platelet (GP9), mRNA.
ACCESSION   NM_000174
VERSION     NM_000174.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 877)
  AUTHORS   Tsai R and Interlandi G.
  TITLE     Oxidation shuts down an auto-inhibitory mechanism of von Willebrand
            factor
  JOURNAL   Proteins 89 (6), 731-741 (2021)
   PUBMED   33550613
  REMARK    GeneRIF: Oxidation shuts down an auto-inhibitory mechanism of von
            Willebrand factor.
REFERENCE   2  (bases 1 to 877)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 877)
  AUTHORS   Mayer L, Jasztal M, Pardo M, Aguera de Haro S, Collins J, Bariana
            TK, Smethurst PA, Grassi L, Petersen R, Nurden P, Favier R, Yu L,
            Meacham S, Astle WJ, Choudhary J, Yue WW, Ouwehand WH and Guerrero
            JA.
  TITLE     Nbeal2 interacts with Dock7, Sec16a, and Vac14
  JOURNAL   Blood 131 (9), 1000-1011 (2018)
   PUBMED   29187380
REFERENCE   4  (bases 1 to 877)
  AUTHORS   Cheng Z, Gao W, Fan X, Chen X, Mei H, Liu J, Luo X and Hu Y.
  TITLE     Extracellular signal-regulated kinase 5 associates with casein
            kinase II to regulate GPIb-IX-mediated platelet activation via the
            PTEN/PI3K/Akt pathway
  JOURNAL   J Thromb Haemost 15 (8), 1679-1688 (2017)
   PUBMED   28603902
  REMARK    GeneRIF: ERK5 associates with CKII to play essential roles in
            GPIb-IX-mediated platelet activation via the PTEN/PI3K/Akt pathway.
REFERENCE   5  (bases 1 to 877)
  AUTHORS   Jallu V, Beranger T, Bianchi F, Casale C, Chenet C, Ferre N,
            Philippe S, Quesne J, Martageix C and Petermann R.
  TITLE     Cab4b, the first human platelet antigen carried by glycoprotein IX
            discovered in a context of severe neonatal thrombocytopenia
  JOURNAL   J Thromb Haemost 15 (8), 1646-1654 (2017)
   PUBMED   28561420
  REMARK    GeneRIF: Case Report: suggest that alloantibodies directed against
            Cab4b, the first human platelet antigen carried by glycoprotein IX,
            can induce severe neonatal thrombocytopenia.
REFERENCE   6  (bases 1 to 877)
  AUTHORS   Modderman PW, Admiraal LG, Sonnenberg A and von dem Borne AE.
  TITLE     Glycoproteins V and Ib-IX form a noncovalent complex in the platelet
            membrane
  JOURNAL   J Biol Chem 267 (1), 364-369 (1992)
   PUBMED   1730602
REFERENCE   7  (bases 1 to 877)
  AUTHORS   Kroll MH, Harris TS, Moake JL, Handin RI and Schafer AI.
  TITLE     von Willebrand factor binding to platelet GpIb initiates signals for
            platelet activation
  JOURNAL   J Clin Invest 88 (5), 1568-1573 (1991)
   PUBMED   1939645
REFERENCE   8  (bases 1 to 877)
  AUTHORS   Hickey MJ, Deaven LL and Roth GJ.
  TITLE     Human platelet glycoprotein IX. Characterization of cDNA and
            localization of the gene to chromosome 3
  JOURNAL   FEBS Lett 274 (1-2), 189-192 (1990)
   PUBMED   2253772
REFERENCE   9  (bases 1 to 877)
  AUTHORS   Andrews RK, Booth WJ, Gorman JJ, Castaldi PA and Berndt MC.
  TITLE     Purification of botrocetin from Bothrops jararaca venom. Analysis of
            the botrocetin-mediated interaction between von Willebrand factor
            and the human platelet membrane glycoprotein Ib-IX complex
  JOURNAL   Biochemistry 28 (21), 8317-8326 (1989)
   PUBMED   2557900
REFERENCE   10  (bases 1 to 877)
  AUTHORS   Du,X., Beutler,L., Ruan,C., Castaldi,P.A. and Berndt,M.C.
  TITLE     Glycoprotein Ib and glycoprotein IX are fully complexed in the
            intact platelet membrane
  JOURNAL   Blood 69 (5), 1524-1527 (1987)
   PUBMED   2436691
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC030229.1, BI767815.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000307395.5/ ENSP00000303942.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X52997.1 and BC030229.1.
            On Feb 27, 2020 this sequence version replaced NM_000174.4.
            Summary: This gene encodes a small membrane glycoprotein found on
            the surface of human platelets. It forms a 1-to-1 noncovalent
            complex with glycoprotein Ib, a platelet surface membrane
            glycoprotein complex that functions as a receptor for von
            Willebrand factor. The complete receptor complex includes
            noncovalent association of the alpha and beta subunits with the
            protein encoded by this gene and platelet glycoprotein V. Defects
            in this gene are a cause of Bernard-Soulier syndrome, also known as
            giant platelet disease. These patients have unusually large
            platelets and have a clinical bleeding tendency. [provided by
            RefSeq, Oct 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..877
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.3"
     gene            1..877
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /note="glycoprotein IX platelet"
                     /db_xref="GeneID:2815"
                     /db_xref="HGNC:HGNC:4444"
                     /db_xref="MIM:173515"
     misc_feature    181..183
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /note="upstream in-frame stop codon"
     CDS             211..744
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /note="glycoprotein 9"
                     /codon_start=1
                     /product="platelet glycoprotein IX precursor"
                     /protein_id="NP_000165.1"
                     /db_xref="CCDS:CCDS3055.1"
                     /db_xref="GeneID:2815"
                     /db_xref="HGNC:HGNC:4444"
                     /db_xref="MIM:173515"
                     /translation="MPAWGALFLLWATAEATKDCPSPCTCRALETMGLWVDCRGHGLTA
                     LPALPARTRHLLLANNSLQSVPPGAFDHLPQLQTLDVTQNPWHCDCSLTYLRLWLEDRT
                     PEALLQVRCASPSLAAHGPLGRLTGYQLGSCGWQLQASWVRPGVLWDVALVAVAALGLA
                     LLAGLLCATTEALD"
     sig_peptide     211..258
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     259..741
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /product="Platelet glycoprotein IX. /id=PRO_0000021360"
                     /note="propagated from UniProtKB/Swiss-Prot (P14770.3)"
     misc_feature    388..459
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /note="propagated from UniProtKB/Swiss-Prot (P14770.3);
                     Region: LRR"
     misc_feature    388..390
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14770.3); glycosylation site"
     misc_feature    652..714
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /note="propagated from UniProtKB/Swiss-Prot (P14770.3);
                     transmembrane region"
     regulatory      847..852
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /note="hexamer: AATAAA"
     polyA_site      877
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /note="major polyA site"
ORIGIN
        1 atagagttgc cacccaggcc tcagccagga cctttcaggc cagacaggag cacctgacca
       61 aaggcttcac agccgccctc accgcccggc cttctacggt gtccagagac agttagccag
      121 gcctgggctg ggcacactcc accttcccta gtcaccagct ggtttcccag aggagaaggc
      181 tgagacccga gaagggagcc agcctgtccc atgcctgcct ggggagccct gttcctgctc
      241 tgggccacag cagaggccac caaggactgc cccagcccat gtacctgccg cgccctggaa
      301 accatggggc tgtgggtgga ctgcaggggc cacggactca cggccctgcc tgccctgccg
      361 gcccgcaccc gccaccttct gctggccaac aacagccttc agtccgtgcc cccgggagcc
      421 tttgaccacc tgccccagct gcagaccctc gatgtgacgc agaacccctg gcactgtgac
      481 tgcagcctca cctatctgcg cctctggctg gaggaccgca cgcccgaggc cctgctgcag
      541 gtccgctgtg ccagccccag cctcgctgcc catggcccgc tgggccggct gacaggctac
      601 cagctgggca gctgtggctg gcagctgcag gcgtcctggg tgcgcccggg ggtcttgtgg
      661 gacgtggcgc tggtcgccgt ggccgcgctg ggcctggctc ttctggctgg cctgctgtgt
      721 gccaccacag aggccctgga ttgagccagg cccccagaac ccctggctcc aggccagggg
      781 gccagtccct gaggcaggtc cccagactcc accaagcctg gtcagcccaa accaccagaa
      841 gcccagaata aactggcagc tcagctgttt tatataa
//
LOCUS       NM_000175               4125 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant
            2, mRNA.
ACCESSION   NM_000175
VERSION     NM_000175.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4125)
  AUTHORS   Zu Y, Wang H, Lin W and Zou C.
  TITLE     Hereditary nonspherocytic hemolytic anemia caused by
            glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient:
            a case report
  JOURNAL   BMC Pediatr 22 (1), 461 (2022)
   PUBMED   35915427
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4125)
  AUTHORS   Sampagar A, Gosavi M, Kedar P, Patel T, Dongerdiye R and
            Mahantashetti N.
  TITLE     Clinical, laboratory, and mutational profile of children with
            glucose phosphate isomerase deficiency: a single centre report
  JOURNAL   Int J Hematol 115 (2), 255-262 (2022)
   PUBMED   34704234
  REMARK    GeneRIF: Clinical, laboratory, and mutational profile of children
            with glucose phosphate isomerase deficiency: a single centre report.
REFERENCE   3  (bases 1 to 4125)
  AUTHORS   Jeoung NH, Jo AL and Park HS.
  TITLE     Synergistic effects of autocrine motility factor and methyl
            jasmonate on human breast cancer cells
  JOURNAL   Biochem Biophys Res Commun 558, 22-28 (2021)
   PUBMED   33894674
REFERENCE   4  (bases 1 to 4125)
  AUTHORS   Ji,X. and Bian,W.
  TITLE     Elevated Serum Glucose-6-Phosphate Isomerase Level in Patients with
            Knee Osteoarthritis
  JOURNAL   Clin Lab 66 (10) (2020)
   PUBMED   33073968
  REMARK    GeneRIF: Elevated Serum Glucose-6-Phosphate Isomerase Level in
            Patients with Knee Osteoarthritis.
REFERENCE   5  (bases 1 to 4125)
  AUTHORS   Tsutsumi S, Gupta SK, Hogan V, Tanaka N, Nakamura KT, Nabi IR and
            Raz A.
  TITLE     The enzymatic activity of phosphoglucose isomerase is not required
            for its cytokine function
  JOURNAL   FEBS Lett 534 (1-3), 49-53 (2003)
   PUBMED   12527360
  REMARK    GeneRIF: The results demonstrate that the enzymatic activity of PGI
            is not essential for either receptor binding or cytokine function of
            human PGI.
REFERENCE   6  (bases 1 to 4125)
  AUTHORS   Haga A, Niinaka Y and Raz A.
  TITLE     Phosphohexose isomerase/autocrine motility
            factor/neuroleukin/maturation factor is a multifunctional
            phosphoprotein
  JOURNAL   Biochim Biophys Acta 1480 (1-2), 235-244 (2000)
   PUBMED   11004567
  REMARK    GeneRIF: PGI is a moonlighting protein that functions as a cytosolic
            enzyme involved in glycolysis and gluconeogenesis, and as cytokine
            through binding to its cell surface receptor.
REFERENCE   7  (bases 1 to 4125)
  AUTHORS   Xu W, Lee P and Beutler E.
  TITLE     Human glucose phosphate isomerase: exon mapping and gene structure
  JOURNAL   Genomics 29 (3), 732-739 (1995)
   PUBMED   8575767
REFERENCE   8  (bases 1 to 4125)
  AUTHORS   Watanabe H, Carmi P, Hogan V, Raz T, Silletti S, Nabi IR and Raz A.
  TITLE     Purification of human tumor cell autocrine motility factor and
            molecular cloning of its receptor
  JOURNAL   J Biol Chem 266 (20), 13442-13448 (1991)
   PUBMED   1649192
REFERENCE   9  (bases 1 to 4125)
  AUTHORS   Walker JI, Faik P and Morgan MJ.
  TITLE     Characterization of the 5' end of the gene for human glucose
            phosphate isomerase (GPI)
  JOURNAL   Genomics 7 (4), 638-643 (1990)
   PUBMED   2387591
REFERENCE   10  (bases 1 to 4125)
  AUTHORS   Brownstein BH, Silverman GA, Little RD, Burke DT, Korsmeyer SJ,
            Schlessinger D and Olson MV.
  TITLE     Isolation of single-copy human genes from a library of yeast
            artificial chromosome clones
  JOURNAL   Science 244 (4910), 1348-1351 (1989)
   PUBMED   2544027
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.82203.1,
            SRR1660809.100604.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000356487.11/ ENSP00000348877.3
            multifunctional gene product(s) :: PMID: 11004567, 12527360
            RefSeq Select criteria          :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC299841.1, BC004982.1,
            AC092073.2 and BM664761.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 16, 2018 this sequence version replaced NM_000175.4.
            Summary: This gene encodes a member of the glucose phosphate
            isomerase protein family. The encoded protein has been identified
            as a moonlighting protein based on its ability to perform
            mechanistically distinct functions. In the cytoplasm, the gene
            product functions as a glycolytic enzyme (glucose-6-phosphate
            isomerase) that interconverts glucose-6-phosphate and
            fructose-6-phosphate. Extracellularly, the encoded protein (also
            referred to as neuroleukin) functions as a neurotrophic factor that
            promotes survival of skeletal motor neurons and sensory neurons,
            and as a lymphokine that induces immunoglobulin secretion. The
            encoded protein is also referred to as autocrine motility factor
            based on an additional function as a tumor-secreted cytokine and
            angiogenic factor. Defects in this gene are the cause of
            nonspherocytic hemolytic anemia and a severe enzyme deficiency can
            be associated with hydrops fetalis, immediate neonatal death and
            neurological impairment. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Aug 2016].
            Transcript Variant: This variant (2) differs in the 5' UTR and uses
            a downstream start codon, compared to variant 3. The encoded
            isoform (2) has a shorter N-terminus, compared to isoform 3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4125
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..4125
                     /gene="GPI"
                     /gene_synonym="AMF; GNPI; NLK; PGI; PHI; SA-36; SA36"
                     /note="glucose-6-phosphate isomerase"
                     /db_xref="GeneID:2821"
                     /db_xref="HGNC:HGNC:4458"
                     /db_xref="MIM:172400"
     CDS             72..1748
                     /gene="GPI"
                     /gene_synonym="AMF; GNPI; NLK; PGI; PHI; SA-36; SA36"
                     /EC_number="5.3.1.9"
                     /note="isoform 2 is encoded by transcript variant 2;
                     neuroleukin; autocrine motility factor; sperm antigen-36;
                     phosphoglucose isomerase; phosphohexose isomerase;
                     phosphohexomutase; hexosephosphate isomerase; hexose
                     monophosphate isomerase; phosphosaccharomutase;
                     oxoisomerase"
                     /codon_start=1
                     /product="glucose-6-phosphate isomerase isoform 2"
                     /protein_id="NP_000166.2"
                     /db_xref="CCDS:CCDS12437.1"
                     /db_xref="GeneID:2821"
                     /db_xref="HGNC:HGNC:4458"
                     /db_xref="MIM:172400"
                     /translation="MAALTRDPQFQKLQQWYREHRSELNLRRLFDANKDRFNHFSLTLN
                     TNHGHILVDYSKNLVTEDVMRMLVDLAKSRGVEAARERMFNGEKINYTEGRAVLHVALR
                     NRSNTPILVDGKDVMPEVNKVLDKMKSFCQRVRSGDWKGYTGKTITDVINIGIGGSDLG
                     PLMVTEALKPYSSGGPRVWYVSNIDGTHIAKTLAQLNPESSLFIIASKTFTTQETITNA
                     ETAKEWFLQAAKDPSAVAKHFVALSTNTTKVKEFGIDPQNMFEFWDWVGGRYSLWSAIG
                     LSIALHVGFDNFEQLLSGAHWMDQHFRTTPLEKNAPVLLALLGIWYINCFGCETHAMLP
                     YDQYLHRFAAYFQQGDMESNGKYITKSGTRVDHQTGPIVWGEPGTNGQHAFYQLIHQGT
                     KMIPCDFLIPVQTQHPIRKGLHHKILLANFLAQTEALMRGKSTEEARKELQAAGKSPED
                     LERLLPHKVFEGNRPTNSIVFTKLTPFMLGALVAMYEHKIFVQGIIWDINSFDQWGVEL
                     GKQLAKKIEPELDGSAQVTSHDASTNGLINFIKQQREARVQ"
     misc_feature    75..77
                     /gene="GPI"
                     /gene_synonym="AMF; GNPI; NLK; PGI; PHI; SA-36; SA36"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.8,
                     ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P06744.4); acetylation site"
     misc_feature    105..107
                     /gene="GPI"
                     /gene_synonym="AMF; GNPI; NLK; PGI; PHI; SA-36; SA36"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P06744.4); acetylation site"
     misc_feature    390..392
                     /gene="GPI"
                     /gene_synonym="AMF; GNPI; NLK; PGI; PHI; SA-36; SA36"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P06744.4); phosphorylation site"
     misc_feature    396..398
                     /gene="GPI"
                     /gene_synonym="AMF; GNPI; NLK; PGI; PHI; SA-36; SA36"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P06744.4); phosphorylation site"
     misc_feature    495..497
                     /gene="GPI"
                     /gene_synonym="AMF; GNPI; NLK; PGI; PHI; SA-36; SA36"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P06744.4); acetylation site"
     misc_feature    624..626
                     /gene="GPI"
                     /gene_synonym="AMF; GNPI; NLK; PGI; PHI; SA-36; SA36"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:11004567,
                     ECO:0000269|PubMed:15637053; propagated from
                     UniProtKB/Swiss-Prot (P06744.4); phosphorylation site"
     misc_feature    819..821
                     /gene="GPI"
                     /gene_synonym="AMF; GNPI; NLK; PGI; PHI; SA-36; SA36"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q6P6V0; propagated from
                     UniProtKB/Swiss-Prot (P06744.4); phosphorylation site"
     misc_feature    1431..1433
                     /gene="GPI"
                     /gene_synonym="AMF; GNPI; NLK; PGI; PHI; SA-36; SA36"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P06745; propagated from
                     UniProtKB/Swiss-Prot (P06744.4); acetylation site"
     misc_feature    1434..1436
                     /gene="GPI"
                     /gene_synonym="AMF; GNPI; NLK; PGI; PHI; SA-36; SA36"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P06744.4); phosphorylation site"
     regulatory      2021..2026
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPI"
                     /gene_synonym="AMF; GNPI; NLK; PGI; PHI; SA-36; SA36"
                     /note="hexamer: AATAAA"
     polyA_site      2040
                     /gene="GPI"
                     /gene_synonym="AMF; GNPI; NLK; PGI; PHI; SA-36; SA36"
                     /note="major polyA site"
     regulatory      4101..4106
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPI"
                     /gene_synonym="AMF; GNPI; NLK; PGI; PHI; SA-36; SA36"
                     /note="hexamer: AATAAA"
     polyA_site      4125
                     /gene="GPI"
                     /gene_synonym="AMF; GNPI; NLK; PGI; PHI; SA-36; SA36"
ORIGIN
        1 gcttgctgcg cgctgccggc gctccttcct cctcggctcg cgtctcactc agtgtacctt
       61 ctagtcccgc catggccgct ctcacccggg acccccagtt ccagaagctg cagcaatggt
      121 accgcgagca ccgctccgag ctgaacctgc gccgcctctt cgatgccaac aaggaccgct
      181 tcaaccactt cagcttgacc ctcaacacca accatgggca tatcctggtg gattactcca
      241 agaacctggt gacggaggac gtgatgcgga tgctggtgga cttggccaag tccaggggcg
      301 tggaggccgc ccgggagcgg atgttcaatg gtgagaagat caactacacc gagggtcgag
      361 ccgtgctgca cgtggctctg cggaaccggt caaacacacc catcctggta gacggcaagg
      421 atgtgatgcc agaggtcaac aaggttctgg acaagatgaa gtctttctgc cagcgtgtcc
      481 ggagcggtga ctggaagggg tacacaggca agaccatcac ggacgtcatc aacattggca
      541 ttggcggctc cgacctggga cccctcatgg tgactgaagc ccttaagcca tactcttcag
      601 gaggtccccg cgtctggtat gtctccaaca ttgatggaac tcacattgcc aaaaccctgg
      661 cccagctgaa ccccgagtcc tccctgttca tcattgcctc caagaccttt actacccagg
      721 agaccatcac gaatgcagag acggcgaagg agtggtttct ccaggcggcc aaggatcctt
      781 ctgcagtggc gaagcacttt gttgccctgt ctactaacac aaccaaagtg aaggagtttg
      841 gaattgaccc tcaaaacatg ttcgagttct gggattgggt gggaggacgc tactcgctgt
      901 ggtcggccat cggactctcc attgccctgc acgtgggttt tgacaacttc gagcagctgc
      961 tctcgggggc tcactggatg gaccagcact tccgcacgac gcccctggag aagaacgccc
     1021 ccgtcttgct ggccctgctg ggtatctggt acatcaactg ctttgggtgt gagacacacg
     1081 ccatgctgcc ctatgaccag tacctgcacc gctttgctgc gtacttccag cagggcgaca
     1141 tggagtccaa tgggaaatac atcaccaaat ctggaacccg tgtggaccac cagacaggcc
     1201 ccattgtgtg gggggagcca gggaccaatg gccagcatgc tttttaccag ctcatccacc
     1261 aaggcaccaa gatgataccc tgtgacttcc tcatcccggt ccagacccag caccccatac
     1321 ggaagggtct gcatcacaag atcctcctgg ccaacttctt ggcccagaca gaggccctga
     1381 tgaggggaaa atcgacggag gaggcccgaa aggagctcca ggctgcgggc aagagtccag
     1441 aggaccttga gaggctgctg ccacataagg tctttgaagg aaatcgccca accaactcta
     1501 ttgtgttcac caagctcaca ccattcatgc ttggagcctt ggtcgccatg tatgagcaca
     1561 agatcttcgt tcagggcatc atctgggaca tcaacagctt tgaccagtgg ggagtggagc
     1621 tgggaaagca gctggctaag aaaatagagc ctgagcttga tggcagtgct caagtgacct
     1681 ctcacgacgc ttctaccaat gggctcatca acttcatcaa gcagcagcgc gaggccagag
     1741 tccaataaac tcgtgctcat ctgcagcctc ctctgtgact cccctttctc ttctcgtccc
     1801 tcctccccgg agccggcact gcatgttcct ggacaccacc cagagcaccc tctggttgtg
     1861 ggcttggacc acgagccctt agcagggaag gctggtctcc cccagcctaa cccccagccc
     1921 ctccatgtct atgctccctc tgtgttagaa ttggctgaag tgtttttgtg cagctgactt
     1981 ttctgaccca tgttcacgtt gttcacatcc catgtagaaa aataaagatg ccacggagga
     2041 ggttgtaggc tcagcctctg attttttttt tcctgtgatg gtgctttatg tagcagaggg
     2101 caggagcgct cagcaggacg caggctgtgc ctctgcggac acttaacact aagtggtgag
     2161 cgggtctaga gtggagcaag gtgccctgag aagacaatag tggggtgggg gcacaatcag
     2221 tcaggacggc aacttggcct gtgtcaccaa atcccaagac tgttttccac tcctcacctc
     2281 tgtgactgca gaaattggat actctgttca ctcgatggtt ctaaaaactg cattgagatt
     2341 atgtttgttt cgggtgaatt cctggacaag accgaggatg actgccatct cctggcaaga
     2401 cgctcaggta gttcttttgc tttaaaaggc agatattgaa aactggaatt tttttttttt
     2461 gagtctcgct ctgtcaccca gactggagtg cagtggtgca atctcggctc actgcaacct
     2521 ccgcctcccg ggttcaagct attctcctgc ctcagcctcc cgagtagctg ggattacacg
     2581 gcgcacacca ccatacccag ctaatttttg tatttttagt agtgaagggg ttttaccatg
     2641 ttgggcaggc tggtcttgaa ctcctgacct caggtgatct gcccgcctca gcctcccaca
     2701 gtgctgggat tacaggtatg agccaccacg cccggcccat tttttttttt tttttgacaa
     2761 cttttttttt tttttgagac agggtcttgt tccattgccc agactggagt gcagtggcat
     2821 gatcacagct cactgcagcc agtaatcctc ttgcctcagc ctcccaagta gttgagacta
     2881 caggttgtac cactatgccc tgctagtttt ttcatttttt gtagagagac gggtcttttt
     2941 tttttttgag acggagtctc gctctgtcgc ccaagctgga gtgcagtagc acggtctcag
     3001 ctcattgcaa gctccgcctc ccaggttcac gccattctcc tgcctcagac tcctgtgtag
     3061 ctgggagtac aggcacctgc caccatgccc ggctaatttt ttatatattt ttttagcaga
     3121 gacagtgtct cactgtgtta gtcaggatgg tctcgatctc ctgacctcgt gatccgcccg
     3181 cctcagcctc ccaaagtgct gggattacag gcgtgagcca ccgcgcccag caaggcgggt
     3241 cttgctgtgt ttcccagact agactggtct tgaattccag ggctcaagag atctcccacc
     3301 tcagcctccc acagtgctgg gattacaggc gtgagccgcc acacccagcc tattcaaaat
     3361 ttttttttct tagagacagg gtctttgttg cccaggctgg actgcagtga tacaatcata
     3421 gctgactgaa gcctcaaatt cccaggctaa ggtgatcttc tcacctcagc cttccaagta
     3481 gctgggtccg cagatgcatg ccagtacacc cagctcattt aaaaaaaaat ttttttcttt
     3541 tttgagagtc ttgctttgtt gcccaggctg gagtgcagtg gtgtgatctc ggctcactgc
     3601 aagctccacc tcccggcttc acgccattct cctgcctcag cctcccgagt agctgggact
     3661 acaggtgccc gccaccacac ccggctaatt ttttgtattt ttagtagaga cggggtttca
     3721 ccgtgttagc caggatggtc ttgatctcct gacctcatga tccgcctgct ttggcctccc
     3781 aaagtgctgg gattacaggc gtgagtcacc gcgcccggct cattttaaaa tttttgtaga
     3841 tcagtgtact gttgtaaaaa aaaaaaaata agaaaaataa aaaataaatt tttgtagtga
     3901 taggatccca ctgaggccag agaatagggt ctggagacaa aggagcattc acttcagcct
     3961 ctgactggtg gcaggccaag tctttattta catagggtgt aaccaaatag gaaacctcta
     4021 aagggtactt aaaccccaga ttttctacac agggcacttg cttgagcctc atcccgcttt
     4081 ctggaatgta cttttgcttc aataaatctg tgcttttgtt ccttc
//
LOCUS       NM_000176               6778 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens nuclear receptor subfamily 3 group C member 1 (NR3C1),
            transcript variant 1, mRNA.
ACCESSION   NM_000176
VERSION     NM_000176.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6778)
  AUTHORS   Sanchez-Hernandez ES, Ochoa PT, Suzuki T, Ortiz-Hernandez GL,
            Unternaehrer JJ, Alkashgari HR, Diaz Osterman CJ, Martinez SR, Chen
            Z, Kremsky I, Wang C and Casiano CA.
  TITLE     Glucocorticoid Receptor Regulates and Interacts with LEDGF/p75 to
            Promote Docetaxel Resistance in Prostate Cancer Cells
  JOURNAL   Cells 12 (16), 2046 (2023)
   PUBMED   37626856
  REMARK    GeneRIF: Glucocorticoid Receptor Regulates and Interacts with
            LEDGF/p75 to Promote Docetaxel Resistance in Prostate Cancer Cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6778)
  AUTHORS   Zhou L, Fang L, Tamm M, Stolz D and Roth M.
  TITLE     Extracellular Heat Shock Protein 70 Increases the Glucocorticoid
            Receptor and Dual-Specificity Phosphatase 1 via Toll-like Receptor 4
            and Attenuates Inflammation in Airway Epithelial Cells
  JOURNAL   Int J Mol Sci 24 (14), 11700 (2023)
   PUBMED   37511459
  REMARK    GeneRIF: Extracellular Heat Shock Protein 70 Increases the
            Glucocorticoid Receptor and Dual-Specificity Phosphatase 1 via
            Toll-like Receptor 4 and Attenuates Inflammation in Airway
            Epithelial Cells. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6778)
  AUTHORS   Robeva R, Marinova E, Andonova S, Nikolaev G, Savov A, Tanev D,
            Nikolov G and Konakchieva R.
  TITLE     Melatonin Receptor 1B and Corticosteroid Receptor Polymorphisms in
            Infertile Women with Implantation Failure and Miscarriages
  JOURNAL   Front Biosci (Landmark Ed) 28 (6), 122 (2023)
   PUBMED   37395040
  REMARK    GeneRIF: Melatonin Receptor 1B and Corticosteroid Receptor
            Polymorphisms in Infertile Women with Implantation Failure and
            Miscarriages.
REFERENCE   4  (bases 1 to 6778)
  AUTHORS   Lu NZ, Collins JB, Grissom SF and Cidlowski JA.
  TITLE     Selective regulation of bone cell apoptosis by translational
            isoforms of the glucocorticoid receptor
  JOURNAL   Mol Cell Biol 27 (20), 7143-7160 (2007)
   PUBMED   17682054
  REMARK    GeneRIF: Results suggest that translational glucocorticoid receptor
            isoforms can elicit distinct glucocorticoid responses.
REFERENCE   5  (bases 1 to 6778)
  AUTHORS   Lu NZ and Cidlowski JA.
  TITLE     Translational regulatory mechanisms generate N-terminal
            glucocorticoid receptor isoforms with unique transcriptional target
            genes
  JOURNAL   Mol Cell 18 (3), 331-342 (2005)
   PUBMED   15866175
  REMARK    GeneRIF: Results suggest that cell-type specific glucocorticoid
            receptor isoforms generate specificity in glucocorticoid control of
            transcription in different tissues.
REFERENCE   6  (bases 1 to 6778)
  AUTHORS   de Lange P, Segeren CM, Koper JW, Wiemer E, Sonneveld P, Brinkmann
            AO, White A, Brogan IJ, de Jong FH and Lamberts SW.
  TITLE     Expression in hematological malignancies of a glucocorticoid
            receptor splice variant that augments glucocorticoid
            receptor-mediated effects in transfected cells
  JOURNAL   Cancer Res 61 (10), 3937-3941 (2001)
   PUBMED   11358809
REFERENCE   7  (bases 1 to 6778)
  AUTHORS   Krett NL, Pillay S, Moalli PA, Greipp PR and Rosen ST.
  TITLE     A variant glucocorticoid receptor messenger RNA is expressed in
            multiple myeloma patients
  JOURNAL   Cancer Res 55 (13), 2727-2729 (1995)
   PUBMED   7796394
REFERENCE   8  (bases 1 to 6778)
  AUTHORS   Subramaniam M, Colvard D, Keeting PE, Rasmussen K, Riggs BL and
            Spelsberg TC.
  TITLE     Glucocorticoid regulation of alkaline phosphatase, osteocalcin, and
            proto-oncogenes in normal human osteoblast-like cells
  JOURNAL   J Cell Biochem 50 (4), 411-424 (1992)
   PUBMED   1469072
REFERENCE   9  (bases 1 to 6778)
  AUTHORS   Scherrer LC and Pratt WB.
  TITLE     Association of the transformed glucocorticoid receptor with a
            cytoskeletal protein complex
  JOURNAL   J Steroid Biochem Mol Biol 41 (3-8), 719-721 (1992)
   PUBMED   1562545
REFERENCE   10  (bases 1 to 6778)
  AUTHORS   Plotkin,L.L., Labutin,A.L., Lebedev,L.V., Khanukov,L.A. and
            Zelikson,O.S.
  TITLE     [Balloon probe for the removal of emboli and thrombi]
  JOURNAL   Med Tekh (3), 42-43 (1975)
   PUBMED   1152650
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.31527.1,
            SRR1803616.11823.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467148
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000394464.7/ ENSP00000377977.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091925.3, X03225.1 and
            AC004782.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 7, 2018 this sequence version replaced NM_000176.2.
            Summary: This gene encodes glucocorticoid receptor, which can
            function both as a transcription factor that binds to
            glucocorticoid response elements in the promoters of glucocorticoid
            responsive genes to activate their transcription, and as a
            regulator of other transcription factors. This receptor is
            typically found in the cytoplasm, but upon ligand binding, is
            transported into the nucleus. It is involved in inflammatory
            responses, cellular proliferation, and differentiation in target
            tissues. Mutations in this gene are associated with generalized
            glucocorticoid resistance. Alternative splicing of this gene
            results in transcript variants encoding either the same or
            different isoforms. Additional isoforms resulting from the use of
            alternate in-frame translation initiation sites have also been
            described, and shown to be functional, displaying diverse
            cytoplasm-to-nucleus trafficking patterns and distinct
            transcriptional activities (PMID:15866175). [provided by RefSeq,
            Feb 2011].
            Transcript Variant: This variant (1) represents the predominant
            transcript, and encodes the predominant physiological isoform
            (alpha, also known as GRalpha or GR-A). Variants 1-5 encode the
            same isoform.
            Sequence Note: This RefSeq containing mutliple in-frame translation
            initiation codons, is annotated with a CDS starting from the
            upstream start codon (at nt 493-495). Additional isoforms (alpha-B,
            C1, C2, C3, D1, D2 and D3) result from the use of downstream
            translation initiation codons. These isoforms are functional, and
            display diverse cytoplasm-to-nucleus trafficking patterns and
            distinct transcriptional activities (PMID:15866175). This RefSeq
            record was created from transcript and genomic sequence data to
            make the sequence consistent with the reference genome assembly.
            The genomic coordinates used for the transcript record were based
            on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6778
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..6778
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="nuclear receptor subfamily 3 group C member 1"
                     /db_xref="GeneID:2908"
                     /db_xref="HGNC:HGNC:7978"
                     /db_xref="MIM:138040"
     misc_feature    478..480
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="upstream in-frame stop codon"
     CDS             490..2823
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="isoform alpha is encoded by transcript variant 1;
                     nuclear receptor subfamily 3, group C, member 1
                     (glucocorticoid receptor); nuclear receptor subfamily 3
                     group C member 1 variant hGR-B(54); nuclear receptor
                     subfamily 3 group C member 1 variant hGR-B(77); nuclear
                     receptor subfamily 3 group C member 1 variant hGR-B(93)"
                     /codon_start=1
                     /product="glucocorticoid receptor isoform alpha"
                     /protein_id="NP_000167.1"
                     /db_xref="CCDS:CCDS4278.1"
                     /db_xref="GeneID:2908"
                     /db_xref="HGNC:HGNC:7978"
                     /db_xref="MIM:138040"
                     /translation="MDSKESLTPGREENPSSVLAQERGDVMDFYKTLRGGATVKVSASS
                     PSLAVASQSDSKQRRLLVDFPKGSVSNAQQPDLSKAVSLSMGLYMGETETKVMGNDLGF
                     PQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDV
                     SSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDEN
                     CLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKE
                     DFIELCTPGVIKQEKLGTVYCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTAS
                     LSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMR
                     PDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCA
                     GRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGN
                     KTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVK
                     WAKAIPGFRNLHLDDQMTLLQYSWMFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMT
                     LPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYI
                     KELGKAIVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFPEML
                     AEIITNQIPKYSNGNIKKLLFHQK"
     misc_feature    490..1749
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="propagated from UniProtKB/Swiss-Prot (P04150.1);
                     Region: Modulating"
     misc_feature    490..558
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="propagated from UniProtKB/Swiss-Prot (P04150.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    490..492
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P04150.1); acetylation site"
     misc_feature    511..513
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P04150.1); phosphorylation site"
     misc_feature    556..558
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P06537; propagated from
                     UniProtKB/Swiss-Prot (P04150.1); methylation site"
     misc_feature    622..624
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P04150.1); phosphorylation site"
     misc_feature    781..834
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="propagated from UniProtKB/Swiss-Prot (P04150.1);
                     Region: Required for high transcriptional activity of
                     isoform Alpha-C3. /evidence=ECO:0000269|PubMed:23820903"
     misc_feature    826..828
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P06537; propagated from
                     UniProtKB/Swiss-Prot (P04150.1); phosphorylation site"
     misc_feature    877..1038
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="propagated from UniProtKB/Swiss-Prot (P04150.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    889..891
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P04150.1); phosphorylation site"
     misc_feature    910..912
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P06537; propagated from
                     UniProtKB/Swiss-Prot (P04150.1); phosphorylation site"
     misc_feature    1096..1098
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:12000743,
                     ECO:0000269|PubMed:18483179, ECO:0000269|PubMed:25847991,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P04150.1); phosphorylation site"
     misc_feature    1120..1122
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:12000743,
                     ECO:0000269|PubMed:18483179, ECO:0000269|PubMed:25847991;
                     propagated from UniProtKB/Swiss-Prot (P04150.1);
                     phosphorylation site"
     misc_feature    1165..1167
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:18483179,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P04150.1); phosphorylation site"
     misc_feature    1288..1290
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P04150.1); phosphorylation site"
     misc_feature    1669..1734
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="propagated from UniProtKB/Swiss-Prot (P04150.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1699..1701
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="Phosphoserine, by GSK3-beta.
                     /evidence=ECO:0000269|PubMed:18838540; propagated from
                     UniProtKB/Swiss-Prot (P04150.1); phosphorylation site"
     misc_feature    1927..1929
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:19141540; propagated from
                     UniProtKB/Swiss-Prot (P04150.1); acetylation site"
     misc_feature    1942..2820
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="propagated from UniProtKB/Swiss-Prot (P04150.1);
                     Region: Interaction with CLOCK"
     misc_feature    1948..2058
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="propagated from UniProtKB/Swiss-Prot (P04150.1);
                     Region: Hinge"
     misc_feature    1963..1965
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:19141540; propagated from
                     UniProtKB/Swiss-Prot (P04150.1); acetylation site"
     misc_feature    1969..1971
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:19141540; propagated from
                     UniProtKB/Swiss-Prot (P04150.1); acetylation site"
     misc_feature    1972..1974
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:19141540; propagated from
                     UniProtKB/Swiss-Prot (P04150.1); acetylation site"
     misc_feature    2083..2580
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="propagated from UniProtKB/Swiss-Prot (P04150.1);
                     Region: Interaction with CRY1.
                     /evidence=ECO:0000269|PubMed:22170608"
     misc_feature    568..570
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="alternate translation initiation codon, use of which
                     results in isoform alpha-B"
     misc_feature    745..747
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="alternate translation initiation codon, use of which
                     results in isoform alpha-C1"
     misc_feature    757..759
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="alternate translation initiation codon, use of which
                     results in isoform alpha-C2"
     misc_feature    781..783
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="alternate translation initiation codon, use of which
                     results in isoform alpha-C3"
     misc_feature    1435..1437
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="alternate translation initiation codon, use of which
                     results in isoform alpha-D1"
     misc_feature    1480..1482
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="alternate translation initiation codon, use of which
                     results in isoform alpha-D2"
     misc_feature    1495..1497
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="alternate translation initiation codon, use of which
                     results in isoform alpha-D3"
     regulatory      6757..6762
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="hexamer: AATAAA"
     polyA_site      6778
                     /gene="NR3C1"
                     /gene_synonym="GCCR; GCR; GCRST; GR; GRL"
                     /note="major polyA site"
ORIGIN
        1 gccgcctcca cccgctcccc gctcggtccc gctcgctcgc ccaggccggg ctgccctttc
       61 gcgtgtccgc gctctcttcc ctccgccgcc gcctcctcca ttttgcgagc tcgtgtctgt
      121 gacgggagcc cgagtcaccg cctgcccgtc ggggacggat tctgtgggtg gaaggagacg
      181 ccgcagccgg agcggccgaa gcagctggga ccgggacggg gcacgcgcgc ccggaacctc
      241 gacccgcgga gcccggcgcg gggcggaggg ctggcttgtc agctgggcaa tgggagactt
      301 tcttaaatag gggctctccc cccacccatg gagaaagggg cggctgttta cttccttttt
      361 ttagaaaaaa aaaatatatt tccctcctgc tccttctgcg ttcacaagct aagttgttta
      421 tctcggctgc ggcgggaact gcggacggtg gcgggcgagc ggctcctctg ccagagttga
      481 tattcactga tggactccaa agaatcatta actcctggta gagaagaaaa ccccagcagt
      541 gtgcttgctc aggagagggg agatgtgatg gacttctata aaaccctaag aggaggagct
      601 actgtgaagg tttctgcgtc ttcaccctca ctggctgtcg cttctcaatc agactccaag
      661 cagcgaagac ttttggttga ttttccaaaa ggctcagtaa gcaatgcgca gcagccagat
      721 ctgtccaaag cagtttcact ctcaatggga ctgtatatgg gagagacaga aacaaaagtg
      781 atgggaaatg acctgggatt cccacagcag ggccaaatca gcctttcctc gggggaaaca
      841 gacttaaagc ttttggaaga aagcattgca aacctcaata ggtcgaccag tgttccagag
      901 aaccccaaga gttcagcatc cactgctgtg tctgctgccc ccacagagaa ggagtttcca
      961 aaaactcact ctgatgtatc ttcagaacag caacatttga agggccagac tggcaccaac
     1021 ggtggcaatg tgaaattgta taccacagac caaagcacct ttgacatttt gcaggatttg
     1081 gagttttctt ctgggtcccc aggtaaagag acgaatgaga gtccttggag atcagacctg
     1141 ttgatagatg aaaactgttt gctttctcct ctggcgggag aagacgattc attccttttg
     1201 gaaggaaact cgaatgagga ctgcaagcct ctcattttac cggacactaa acccaaaatt
     1261 aaggataatg gagatctggt tttgtcaagc cccagtaatg taacactgcc ccaagtgaaa
     1321 acagaaaaag aagatttcat cgaactctgc acccctgggg taattaagca agagaaactg
     1381 ggcacagttt actgtcaggc aagctttcct ggagcaaata taattggtaa taaaatgtct
     1441 gccatttctg ttcatggtgt gagtacctct ggaggacaga tgtaccacta tgacatgaat
     1501 acagcatccc tttctcaaca gcaggatcag aagcctattt ttaatgtcat tccaccaatt
     1561 cccgttggtt ccgaaaattg gaataggtgc caaggatctg gagatgacaa cttgacttct
     1621 ctggggactc tgaacttccc tggtcgaaca gttttttcta atggctattc aagccccagc
     1681 atgagaccag atgtaagctc tcctccatcc agctcctcaa cagcaacaac aggaccacct
     1741 cccaaactct gcctggtgtg ctctgatgaa gcttcaggat gtcattatgg agtcttaact
     1801 tgtggaagct gtaaagtttt cttcaaaaga gcagtggaag gacagcacaa ttacctatgt
     1861 gctggaagga atgattgcat catcgataaa attcgaagaa aaaactgccc agcatgccgc
     1921 tatcgaaaat gtcttcaggc tggaatgaac ctggaagctc gaaaaacaaa gaaaaaaata
     1981 aaaggaattc agcaggccac tacaggagtc tcacaagaaa cctctgaaaa tcctggtaac
     2041 aaaacaatag ttcctgcaac gttaccacaa ctcaccccta ccctggtgtc actgttggag
     2101 gttattgaac ctgaagtgtt atatgcagga tatgatagct ctgttccaga ctcaacttgg
     2161 aggatcatga ctacgctcaa catgttagga gggcggcaag tgattgcagc agtgaaatgg
     2221 gcaaaggcaa taccaggttt caggaactta cacctggatg accaaatgac cctactgcag
     2281 tactcctgga tgtttcttat ggcatttgct ctggggtgga gatcatatag acaatcaagt
     2341 gcaaacctgc tgtgttttgc tcctgatctg attattaatg agcagagaat gactctaccc
     2401 tgcatgtacg accaatgtaa acacatgctg tatgtttcct ctgagttaca caggcttcag
     2461 gtatcttatg aagagtatct ctgtatgaaa accttactgc ttctctcttc agttcctaag
     2521 gacggtctga agagccaaga gctatttgat gaaattagaa tgacctacat caaagagcta
     2581 ggaaaagcca ttgtcaagag ggaaggaaac tccagccaga actggcagcg gttttatcaa
     2641 ctgacaaaac tcttggattc tatgcatgaa gtggttgaaa atctccttaa ctattgcttc
     2701 caaacatttt tggataagac catgagtatt gaattccccg agatgttagc tgaaatcatc
     2761 accaatcaga taccaaaata ttcaaatgga aatatcaaaa aacttctgtt tcatcaaaag
     2821 tgactgcctt aataagaatg gttgccttaa agaaagtcga attaatagct tttattgtat
     2881 aaactatcag tttgtcctgt agaggttttg ttgttttatt ttttattgtt ttcatctgtt
     2941 gttttgtttt aaatacgcac tacatgtggt ttatagaggg ccaagacttg gcaacagaag
     3001 cagttgagtc gtcatcactt ttcagtgatg ggagagtaga tggtgaaatt tattagttaa
     3061 tatatcccag aaattagaaa ccttaatatg tggacgtaat ctccacagtc aaagaaggat
     3121 ggcacctaaa ccaccagtgc ccaaagtctg tgtgatgaac tttctcttca tacttttttt
     3181 cacagttggc tggatgaaat tttctagact ttctgttggt gtatcccccc cctgtatagt
     3241 taggatagca tttttgattt atgcatggaa acctgaaaaa aagtttacaa gtgtatatca
     3301 gaaaagggaa gttgtgcctt ttatagctat tactgtctgg ttttaacaat ttcctttata
     3361 tttagtgaac tacgcttgct cattttttct tacataattt tttattcaag ttattgtaca
     3421 gctgtttaag atgggcagct agttcgtagc tttcccaaat aaactctaaa cattaatcaa
     3481 tcatctgtgt gaaaatgggt tggtgcttct aacctgatgg cacttagcta tcagaagacc
     3541 acaaaaattg actcaaatct ccagtattct tgtcaaaaaa aaaaaaaaaa aagctcatat
     3601 tttgtatata tctgcttcag tggagaatta tataggttgt gcaaattaac agtcctaact
     3661 ggtatagagc acctagtcca gtgacctgct gggtaaactg tggatgatgg ttgcaaaaga
     3721 ctaatttaaa aaataactac caagaggccc tgtctgtacc taacgcccta tttttgcaat
     3781 ggctatatgg caagaaagct ggtaaactat ttgtctttca ggaccttttg aagtagtttg
     3841 tataacttct taaaagttgt gattccagat aaccagctgt aacacagctg agagactttt
     3901 aatcagacaa agtaattcct ctcactaaac tttacccaaa aactaaatct ctaatatggc
     3961 aaaaatggct agacacccat tttcacattc ccatctgtca ccaattggtt aatctttcct
     4021 gatggtacag gaaagctcag ctactgattt ttgtgattta gaactgtatg tcagacatcc
     4081 atgtttgtaa aactacacat ccctaatgtg tgccatagag tttaacacaa gtcctgtgaa
     4141 tttcttcact gttgaaaatt attttaaaca aaatagaagc tgtagtagcc ctttctgtgt
     4201 gcaccttacc aactttctgt aaactcaaaa cttaacatat ttactaagcc acaagaaatt
     4261 tgatttctat tcaaggtggc caaattattt gtgtaataga aaactgaaaa tctaatatta
     4321 aaaatatgga acttctaata tatttttata tttagttata gtttcagata tatatcatat
     4381 tggtattcac taatctggga agggaagggc tactgcagct ttacatgcaa tttattaaaa
     4441 tgattgtaaa atagcttgta tagtgtaaaa taagaatgat ttttagatga gattgtttta
     4501 tcatgacatg ttatatattt tttgtagggg tcaaagaaat gctgatggat aacctatatg
     4561 atttatagtt tgtacatgca ttcatacagg cagcgatggt ctcagaaacc aaacagtttg
     4621 ctctagggga agagggagat ggagactggt cctgtgtgca gtgaaggttg ctgaggctct
     4681 gacccagtga gattacagag gaagttatcc tctgcctccc attctgacca cccttctcat
     4741 tccaacagtg agtctgtcag cgcaggttta gtttactcaa tctccccttg cactaaagta
     4801 tgtaaagtat gtaaacagga gacaggaagg tggtgcttac atccttaaag gcaccatcta
     4861 atagcgggtt actttcacat acagccctcc cccagcagtt gaatgacaac agaagcttca
     4921 gaagtttggc aatagtttgc atagaggtac cagcaatatg taaatagtgc agaatctcat
     4981 aggttgccaa taatacacta attcctttct atcctacaac aagagtttat ttccaaataa
     5041 aatgaggaca tgtttttgtt ttctttgaat gctttttgaa tgttatttgt tattttcagt
     5101 attttggaga aattatttaa taaaaaaaca atcatttgct ttttgaatgc tctctaaaag
     5161 ggaatgtaat attttaagat ggtgtgtaac ccggctggat aaatttttgg tgcctaagaa
     5221 aactgcttga atattcttat caatgacagt gttaagtttc aaaaagagct tctaaaacgt
     5281 agattatcat tcctttatag aatgttatgt ggttaaaacc agaaagcaca tctcacacat
     5341 taatctgatt ttcatcccaa caatcttggc gctcaaaaaa tagaactcaa tgagaaaaag
     5401 aagattatgt gcacttcgtt gtcaataata agtcaactga tgctcatcga caactatagg
     5461 aggcttttca ttaaatggga aaagaagctg tgccctttta ggatacgtgg gggaaaagaa
     5521 agtcatctta attatgttta attgtggatt taagtgctat atggtggtgc tgtttgaaag
     5581 cagatttatt tcctatgtat gtgttatctg gccatcccaa cccaaactgt tgaagtttgt
     5641 agtaacttca gtgagagttg gttactcaca acaaatcctg aaaagtattt ttagtgtttg
     5701 taggtattct gtgggatact atacaagcag aactgaggca cttaggacat aacacttttg
     5761 gggtatatat atccaaatgc ctaaaactat gggaggaaac cttggccacc ccaaaaggaa
     5821 aactaacatg atttgtgtct atgaagtgct ggataattag catgggatga gctctgggca
     5881 tgccatgaag gaaagccacg ctcccttcag aattcagagg cagggagcaa ttccagtttc
     5941 acctaagtct cataatttta gttccctttt aaaaaccctg aaaactacat caccatggaa
     6001 tgaaaaatat tgttatacaa tacattgatc tgtcaaactt ccagaaccat ggtagccttc
     6061 agtgagattt ccatcttggc tggtcactcc ctgactgtag ctgtaggtga atgtgttttt
     6121 gtgtgtgtgt gtctggtttt agtgtcagaa gggaaataaa agtgtaagga ggacacttta
     6181 aaccctttgg gtggagtttc gtaatttccc agactatttt caagcaacct ggtccaccca
     6241 ggattagtga ccaggttttc aggaaaggat ttgcttctct ctagaaaatg tctgaaagga
     6301 ttttattttc tgatgaaagg ctgtatgaaa ataccctcct caaataactt gcttaactac
     6361 atatagattc aagtgtgtca atattctatt ttgtatatta aatgctatat aatggggaca
     6421 aatctatatt atactgtgta tggcattatt aagaagcttt ttcattattt tttatcacag
     6481 taattttaaa atgtgtaaaa attaaaacca gtgactcctg tttaaaaata aaagttgtag
     6541 ttttttattc atgctgaata ataatctgta gttaaaaaaa aagtgtcttt ttacctacgc
     6601 agtgaaatgt cagactgtaa aaccttgtgt ggaaatgttt aacttttatt ttttcattta
     6661 aatttgctgt tctggtatta ccaaaccaca catttgtacc gaattggcag taaatgttag
     6721 ccatttacag caatgccaaa tatggagaaa catcataata aaaaaatctg ctttttca
//
LOCUS       NM_000178               1909 bp    mRNA    linear   PRI 11-MAR-2023
DEFINITION  Homo sapiens glutathione synthetase (GSS), transcript variant 1,
            mRNA.
ACCESSION   NM_000178
VERSION     NM_000178.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1909)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1909)
  AUTHORS   Angelova S, Salim A, Kiselova-Kaneva Y, Ivanova D and Peev S.
  TITLE     Association of mRNA Levels of IL6, MMP-8, GSS in Saliva and
            Pyelonephritis in Children
  JOURNAL   Molecules 25 (1), 85 (2019)
   PUBMED   31881666
  REMARK    GeneRIF: Salivary IL-6, MMP-8 and GSS mRNA levels in combination
            with urine test analysis could be useful diagnostic tool for the
            very distributed disorder of pyelonephritis in childhood.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1909)
  AUTHORS   Strohkamp S, Gemoll T, Humborg S, Hartwig S, Lehr S, Freitag-Wolf S,
            Becker S, Franzen B, Pries R, Wollenberg B, Roblick UJ, Bruch HP,
            Keck T, Auer G and Habermann JK.
  TITLE     Protein levels of clusterin and glutathione synthetase in platelets
            allow for early detection of colorectal cancer
  JOURNAL   Cell Mol Life Sci 75 (2), 323-334 (2018)
   PUBMED   28849249
  REMARK    GeneRIF: Data suggest that the potential of clusterin and
            glutathione synthetase (GSH-S) as platelet biomarkers for early
            detection of colorectal cancer (CRC) could improve existing
            screening modalities in clinical application.
REFERENCE   4  (bases 1 to 1909)
  AUTHORS   Gunduz,M., Unal,O., Kavurt,S., Turk,E. and Mungan,N.O.
  TITLE     Clinical findings and effect of sodium hydrogen carbonate in
            patients with glutathione synthetase deficiency
  JOURNAL   J Pediatr Endocrinol Metab 29 (4), 481-485 (2016)
   PUBMED   26669244
  REMARK    GeneRIF: Mutation in Glutathione Synthase gene is associated with
            chronic metabolic acidosis in glutathione synthetase deficiency.
REFERENCE   5  (bases 1 to 1909)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE,
            Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker SA,
            Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G,
            Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   6  (bases 1 to 1909)
  AUTHORS   Gali RR and Board PG.
  TITLE     Sequencing and expression of a cDNA for human glutathione synthetase
  JOURNAL   Biochem J 310 (Pt 1) (Pt 1), 353-358 (1995)
   PUBMED   7646467
REFERENCE   7  (bases 1 to 1909)
  AUTHORS   Uhlig S and Wendel A.
  TITLE     The physiological consequences of glutathione variations
  JOURNAL   Life Sci 51 (14), 1083-1094 (1992)
   PUBMED   1518371
  REMARK    Review article
REFERENCE   8  (bases 1 to 1909)
  AUTHORS   Meister,A. and Anderson,M.E.
  TITLE     Glutathione
  JOURNAL   Annu Rev Biochem 52, 711-760 (1983)
   PUBMED   6137189
  REMARK    Review article
REFERENCE   9  (bases 1 to 1909)
  AUTHORS   Rollins,D., Larsson,A., Steen,B., Krishnaswamy,K., Hagenfeldt,L.,
            Moldeus,P. and Rane,A.
  TITLE     Glutathione and gamma-glutamyl cycle enzymes in human fetal liver
  JOURNAL   J Pharmacol Exp Ther 217 (3), 697-700 (1981)
   PUBMED   6112263
REFERENCE   10  (bases 1 to 1909)
  AUTHORS   Spielberg,S.P., Boxer,L.A., Oliver,J.M., Allen,J.M. and
            Schulman,J.D.
  TITLE     Oxidative damage to neutrophils in glutathione synthetase deficiency
  JOURNAL   Br J Haematol 42 (2), 215-223 (1979)
   PUBMED   465367
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.73296.1,
            SRR3476690.360308.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000651619.1/ ENSP00000498303.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU076581.1, BC007927.1 and
            AL133324.13.
            This sequence is a reference standard in the RefSeqGene project.
            On May 16, 2018 this sequence version replaced NM_000178.3.
            Summary: Glutathione is important for a variety of biological
            functions, including protection of cells from oxidative damage by
            free radicals, detoxification of xenobiotics, and membrane
            transport. The protein encoded by this gene functions as a
            homodimer to catalyze the second step of glutathione biosynthesis,
            which is the ATP-dependent conversion of
            gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene
            are a cause of glutathione synthetase deficiency. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1909
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.22"
     gene            1..1909
                     /gene="GSS"
                     /gene_synonym="GSHS; HEL-S-64p; HEL-S-88n"
                     /note="glutathione synthetase"
                     /db_xref="GeneID:2937"
                     /db_xref="HGNC:HGNC:4624"
                     /db_xref="MIM:601002"
     misc_feature    23..25
                     /gene="GSS"
                     /gene_synonym="GSHS; HEL-S-64p; HEL-S-88n"
                     /note="upstream in-frame stop codon"
     CDS             89..1513
                     /gene="GSS"
                     /gene_synonym="GSHS; HEL-S-64p; HEL-S-88n"
                     /EC_number="6.3.2.3"
                     /note="GSH synthetase; glutathione synthase; GSH-S"
                     /codon_start=1
                     /product="glutathione synthetase"
                     /protein_id="NP_000169.1"
                     /db_xref="CCDS:CCDS13245.1"
                     /db_xref="GeneID:2937"
                     /db_xref="HGNC:HGNC:4624"
                     /db_xref="MIM:601002"
                     /translation="MATNWGSLLQDKQQLEELARQAVDRALAEGVLLRTSQEPTSSEVV
                     SYAPFTLFPSLVPSALLEQAYAVQMDFNLLVDAVSQNAAFLEQTLSSTIKQDDFTARLF
                     DIHKQVLKEGIAQTVFLGLNRSDYMFQRSADGSPALKQIEINTISASFGGLASRTPAVH
                     RHVLSVLSKTKEAGKILSNNPSKGLALGIAKAWELYGSPNALVLLIAQEKERNIFDQRA
                     IENELLARNIHVIRRTFEDISEKGSLDQDRRLFVDGQEIAVVYFRDGYMPRQYSLQNWE
                     ARLLLERSHAAKCPDIATQLAGTKKVQQELSRPGMLEMLLPGQPEAVARLRATFAGLYS
                     LDVGEEGDQAIAEALAAPSRFVLKPQREGGGNNLYGEEMVQALKQLKDSEERASYILME
                     KIEPEPFENCLLRPGSPARVVQCISELGIFGVYVRQEKTLVMNKHVGHLLRTKAIEHAD
                     GGVAAGVAVLDNPYPV"
     misc_feature    92..94
                     /gene="GSS"
                     /gene_synonym="GSHS; HEL-S-64p; HEL-S-88n"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (P48637.1); acetylation site"
     misc_feature    1331..1333
                     /gene="GSS"
                     /gene_synonym="GSHS; HEL-S-64p; HEL-S-88n"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P48637.1); phosphorylation site"
     regulatory      1886..1891
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSS"
                     /gene_synonym="GSHS; HEL-S-64p; HEL-S-88n"
                     /note="hexamer: AATAAA"
     polyA_site      1908
                     /gene="GSS"
                     /gene_synonym="GSHS; HEL-S-64p; HEL-S-88n"
                     /note="major polyA site"
ORIGIN
        1 gtcgcatcga ggccccgccc cctgagcctg ggtagcggcg cgagggccgg gagaaccgtt
       61 cgcggaggaa aggcgaacta gtgttgggat ggccaccaac tgggggagcc tcttgcagga
      121 taaacagcag ctagaggagc tggcacggca ggccgtggac cgggccctgg ctgagggagt
      181 attgctgagg acctcacagg agcccacttc ctcggaggtg gtgagctatg ccccattcac
      241 gctcttcccc tcactggtcc ccagtgccct gctggagcaa gcctatgctg tgcagatgga
      301 cttcaacctg ctagtggatg ctgtcagcca gaacgctgcc ttcctggagc aaactctttc
      361 cagcaccatc aaacaggatg actttaccgc tcgtctcttt gacatccaca agcaagtcct
      421 aaaagagggc attgcccaga ctgtgttcct gggcctgaat cgctcagact acatgttcca
      481 gcgcagcgca gatggctccc cagccctgaa acagatcgaa atcaacacca tctctgccag
      541 ctttgggggc ctggcctccc ggaccccagc tgtgcaccga catgttctca gtgtcctgag
      601 taagaccaaa gaagctggca agatcctctc taataatccc agcaagggac tggccctggg
      661 aattgccaaa gcctgggagc tctacggctc acccaatgct ctggtgctac tgattgctca
      721 agagaaggaa agaaacatat ttgaccagcg tgccatagag aatgagctac tggccaggaa
      781 catccatgtg atccgacgaa catttgaaga tatctctgaa aaggggtctc tggaccaaga
      841 ccgaaggctg tttgtggatg gccaggaaat tgctgtggtt tacttccggg atggctacat
      901 gcctcgtcag tacagtctac agaattggga agcacgtcta ctgctggaga ggtcacatgc
      961 tgccaagtgc ccagacattg ccacccagct ggctgggact aagaaggtgc agcaggagct
     1021 aagcaggccg ggcatgctgg agatgttgct ccctggccag cctgaggctg tggcccgcct
     1081 ccgcgccacc tttgctggcc tctactcact ggatgtgggt gaagaagggg accaggccat
     1141 cgccgaggcc cttgctgccc ctagccggtt tgtgctaaag ccccagagag agggtggagg
     1201 taacaaccta tatggggagg aaatggtaca ggccctgaaa cagctgaagg acagtgagga
     1261 gagggcctcc tacatcctca tggagaagat cgaacctgag ccttttgaga attgcctgct
     1321 acggcctggc agccctgccc gagtggtcca gtgcatttca gagctgggca tctttggggt
     1381 ctatgtcagg caggaaaaga cactcgtgat gaacaagcac gtggggcatc tacttcgaac
     1441 caaagccatc gagcatgcag atggtggtgt ggcagcggga gtggcagtcc tggacaaccc
     1501 ataccctgtg tgagggcaca accaggccac gggaccttct atcctctgta tttgtcattc
     1561 ctctcctagc cctcctgagg ggtatcctcc taaagacctc caaagttttt atggaagggt
     1621 aaatactggt accttccccc agctttccat ctgaggacca gaaaagttgt gtctccctta
     1681 gatgagatct agacgccccc aaatccttga gatgtgggta tagctcaggg taagctgctc
     1741 tgaggtaaag gtccatgaac cctgccccac tcctgtcagc ccctcatcag ccttttcagc
     1801 aggttccagt gcctgacttg ggataggact gagtggtagg aggaggggga gtggaggggc
     1861 atagcctttc cctaattctg ccttaaataa aactgcattg ctgattcag
//
LOCUS       NM_000179               4265 bp    mRNA    linear   PRI 09-JUL-2023
DEFINITION  Homo sapiens mutS homolog 6 (MSH6), transcript variant 1, mRNA.
ACCESSION   NM_000179
VERSION     NM_000179.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4265)
  AUTHORS   Helderman NC, Van Der Werf-'t Lam AS, Morreau H, Boot A, Van Wezel T
            and Nielsen M.
  CONSRTM   MSH6 TUMOR GROUP
  TITLE     Molecular Profile of MSH6-Associated Colorectal Carcinomas Shows
            Distinct Features From Other Lynch Syndrome-Associated Colorectal
            Carcinomas
  JOURNAL   Gastroenterology 165 (1), 271-274 (2023)
   PUBMED   36931573
  REMARK    GeneRIF: Molecular Profile of MSH6-Associated Colorectal Carcinomas
            Shows Distinct Features From Other Lynch Syndrome-Associated
            Colorectal Carcinomas.
REFERENCE   2  (bases 1 to 4265)
  AUTHORS   Singh S, Singh N, Baranwal M and Sharma S.
  TITLE     Structural, functional analysis and association of MSH6 rs1800932,
            rs1042821 polymorphisms with clinical outcome in North Indian lung
            cancer patients treated with platinum-based doublet chemotherapy
  JOURNAL   Am J Med Sci 364 (6), 735-745 (2022)
   PUBMED   35868444
  REMARK    GeneRIF: Structural, functional analysis and association of MSH6
            rs1800932, rs1042821 polymorphisms with clinical outcome in North
            Indian lung cancer patients treated with platinum-based doublet
            chemotherapy.
REFERENCE   3  (bases 1 to 4265)
  AUTHORS   Boumehdi AL, Cherbal F, Khider F, Oukkal M, Mahfouf H, Zebboudj F
            and Maaoui M.
  TITLE     Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64
            Algerian Lynch syndrome families: The first nationwide study
  JOURNAL   Ann Hum Genet 86 (6), 328-352 (2022)
   PUBMED   36073783
  REMARK    GeneRIF: Germline variants screening of MLH1, MSH2, MSH6 and PMS2
            genes in 64 Algerian Lynch syndrome families: The first nationwide
            study.
REFERENCE   4  (bases 1 to 4265)
  AUTHORS   Amar-Schwartz A, Ben Hur V, Jbara A, Cohen Y, Barnabas GD, Arbib E,
            Siegfried Z, Mashahreh B, Hassouna F, Shilo A, Abu-Odeh M, Berger M,
            Wiener R, Aqeilan R, Geiger T and Karni R.
  TITLE     S6K1 phosphorylates Cdk1 and MSH6 to regulate DNA repair
  JOURNAL   Elife 11, e79128 (2022)
   PUBMED   36189922
  REMARK    GeneRIF: S6K1 phosphorylates Cdk1 and MSH6 to regulate DNA repair.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4265)
  AUTHORS   Miyaki,M., Konishi,M., Tanaka,K., Kikuchi-Yanoshita,R., Muraoka,M.,
            Yasuno,M., Igari,T., Koike,M., Chiba,M. and Mori,T.
  TITLE     Germline mutation of MSH6 as the cause of hereditary nonpolyposis
            colorectal cancer
  JOURNAL   Nat Genet 17 (3), 271-272 (1997)
   PUBMED   9354786
REFERENCE   6  (bases 1 to 4265)
  AUTHORS   Risinger JI, Umar A, Boyd J, Berchuck A, Kunkel TA and Barrett JC.
  TITLE     Mutation of MSH3 in endometrial cancer and evidence for its
            functional role in heteroduplex repair
  JOURNAL   Nat Genet 14 (1), 102-105 (1996)
   PUBMED   8782829
REFERENCE   7  (bases 1 to 4265)
  AUTHORS   Papadopoulos N, Nicolaides NC, Liu B, Parsons R, Lengauer C, Palombo
            F, D'Arrigo A, Markowitz S, Willson JK, Kinzler KW et al.
  TITLE     Mutations of GTBP in genetically unstable cells
  JOURNAL   Science 268 (5219), 1915-1917 (1995)
   PUBMED   7604266
REFERENCE   8  (bases 1 to 4265)
  AUTHORS   Palombo F, Gallinari P, Iaccarino I, Lettieri T, Hughes M, D'Arrigo
            A, Truong O, Hsuan JJ and Jiricny J.
  TITLE     GTBP, a 160-kilodalton protein essential for mismatch-binding
            activity in human cells
  JOURNAL   Science 268 (5219), 1912-1914 (1995)
   PUBMED   7604265
REFERENCE   9  (bases 1 to 4265)
  AUTHORS   Drummond JT, Li GM, Longley MJ and Modrich P.
  TITLE     Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch
            repair to tumor cells
  JOURNAL   Science 268 (5219), 1909-1912 (1995)
   PUBMED   7604264
REFERENCE   10  (bases 1 to 4265)
  AUTHORS   Idos,G. and Valle,L.
  TITLE     Lynch Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301390
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U28946.1, SRR11853561.15911.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000234420.11/ ENSP00000234420.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC071594.1 and U54777.2.
            On Nov 27, 2019 this sequence version replaced NM_000179.2.
            Summary: This gene encodes a member of the DNA mismatch repair MutS
            family. In E. coli, the MutS protein helps in the recognition of
            mismatched nucleotides prior to their repair. A highly conserved
            region of approximately 150 aa, called the Walker-A adenine
            nucleotide binding motif, exists in MutS homologs. The encoded
            protein heterodimerizes with MSH2 to form a mismatch recognition
            complex that functions as a bidirectional molecular switch that
            exchanges ADP and ATP as DNA mismatches are bound and dissociated.
            Mutations in this gene may be associated with hereditary
            nonpolyposis colon cancer, colorectal cancer, and endometrial
            cancer. Transcripts variants encoding different isoforms have been
            described. [provided by RefSeq, Jul 2013].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest protein (isoform 1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4265
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.3"
     gene            1..4265
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="mutS homolog 6"
                     /db_xref="GeneID:2956"
                     /db_xref="HGNC:HGNC:7329"
                     /db_xref="MIM:600678"
     CDS             90..4172
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="isoform 1 is encoded by transcript variant 1; G/T
                     mismatch-binding protein; sperm-associated protein; DNA
                     mismatch repair protein Msh6; mutS-alpha 160 kDa subunit;
                     mutS protein homolog 6; mutS-like protein 6"
                     /codon_start=1
                     /product="DNA mismatch repair protein Msh6 isoform 1"
                     /protein_id="NP_000170.1"
                     /db_xref="CCDS:CCDS1836.1"
                     /db_xref="GeneID:2956"
                     /db_xref="HGNC:HGNC:7329"
                     /db_xref="MIM:600678"
                     /translation="MSRQSTLYSFFPKSPALSDANKASARASREGGRAAAAPGASPSPG
                     GDAAWSEAGPGPRPLARSASPPKAKNLNGGLRRSVAPAAPTSCDFSPGDLVWAKMEGYP
                     WWPCLVYNHPFDGTFIREKGKSVRVHVQFFDDSPTRGWVSKRLLKPYTGSKSKEAQKGG
                     HFYSAKPEILRAMQRADEALNKDKIKRLELAVCDEPSEPEEEEEMEVGTTYVTDKSEED
                     NEIESEEEVQPKTQGSRRSSRQIKKRRVISDSESDIGGSDVEFKPDTKEEGSSDEISSG
                     VGDSESEGLNSPVKVARKRKRMVTGNGSLKRKSSRKETPSATKQATSISSETKNTLRAF
                     SAPQNSESQAHVSGGGDDSSRPTVWYHETLEWLKEEKRRDEHRRRPDHPDFDASTLYVP
                     EDFLNSCTPGMRKWWQIKSQNFDLVICYKVGKFYELYHMDALIGVSELGLVFMKGNWAH
                     SGFPEIAFGRYSDSLVQKGYKVARVEQTETPEMMEARCRKMAHISKYDRVVRREICRII
                     TKGTQTYSVLEGDPSENYSKYLLSLKEKEEDSSGHTRAYGVCFVDTSLGKFFIGQFSDD
                     RHCSRFRTLVAHYPPVQVLFEKGNLSKETKTILKSSLSCSLQEGLIPGSQFWDASKTLR
                     TLLEEEYFREKLSDGIGVMLPQVLKGMTSESDSIGLTPGEKSELALSALGGCVFYLKKC
                     LIDQELLSMANFEEYIPLDSDTVSTTRSGAIFTKAYQRMVLDAVTLNNLEIFLNGTNGS
                     TEGTLLERVDTCHTPFGKRLLKQWLCAPLCNHYAINDRLDAIEDLMVVPDKISEVVELL
                     KKLPDLERLLSKIHNVGSPLKSQNHPDSRAIMYEETTYSKKKIIDFLSALEGFKVMCKI
                     IGIMEEVADGFKSKILKQVISLQTKNPEGRFPDLTVELNRWDTAFDHEKARKTGLITPK
                     AGFDSDYDQALADIRENEQSLLEYLEKQRNRIGCRTIVYWGIGRNRYQLEIPENFTTRN
                     LPEEYELKSTKKGCKRYWTKTIEKKLANLINAEERRDVSLKDCMRRLFYNFDKNYKDWQ
                     SAVECIAVLDVLLCLANYSRGGDGPMCRPVILLPEDTPPFLELKGSRHPCITKTFFGDD
                     FIPNDILIGCEEEEQENGKAYCVLVTGPNMGGKSTLMRQAGLLAVMAQMGCYVPAEVCR
                     LTPIDRVFTRLGASDRIMSGESTFFVELSETASILMHATAHSLVLVDELGRGTATFDGT
                     AIANAVVKELAETIKCRTLFSTHYHSLVEDYSQNVAVRLGHMACMVENECEDPSQETIT
                     FLYKFIKGACPKSYGFNAARLANLPEEVIQKGHRKAREFEKMNQSLRLFREVCLASERS
                     TVDAEAVHKLLTLIKEL"
     misc_feature    90..341
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="propagated from UniProtKB/Swiss-Prot (P52701.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    129..131
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P52701.2);
                     phosphorylation site"
     misc_feature    210..212
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    216..218
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    297..299
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); acetylation site"
     misc_feature    324..326
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    360..362
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    498..500
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    672..1175
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="propagated from UniProtKB/Swiss-Prot (P52701.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    687..689
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    744..746
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    768..770
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P52701.2);
                     phosphorylation site"
     misc_feature    843..845
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P52701.2);
                     phosphorylation site"
     misc_feature    849..851
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    855..857
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    870..872
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P52701.2);
                     phosphorylation site"
     misc_feature    894..896
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    909..911
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    912..914
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    924..926
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    927..929
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    1014..1016
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P52701.2);
                     phosphorylation site"
     misc_feature    1551..1553
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    1599..1601
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); acetylation site"
     misc_feature    2577..2579
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    2892..2894
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     misc_feature    3117..3119
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P52701.2); phosphorylation site"
     regulatory      4241..4246
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="hexamer: AATAAA"
     polyA_site      4265
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="major polyA site"
ORIGIN
        1 agatttcccg ccagcaggag ccgcgcggta gatgcggtgc ttttaggagc tccgtccgac
       61 agaacggttg ggccttgccg gctgtcggta tgtcgcgaca gagcaccctg tacagcttct
      121 tccccaagtc tccggcgctg agtgatgcca acaaggcctc ggccagggcc tcacgcgaag
      181 gcggccgtgc cgccgctgcc cccggggcct ctccttcccc aggcggggat gcggcctgga
      241 gcgaggctgg gcctgggccc aggcccttgg cgcgctccgc gtcaccgccc aaggcgaaga
      301 acctcaacgg agggctgcgg agatcggtag cgcctgctgc ccccaccagt tgtgacttct
      361 caccaggaga tttggtttgg gccaagatgg agggttaccc ctggtggcct tgtctggttt
      421 acaaccaccc ctttgatgga acattcatcc gcgagaaagg gaaatcagtc cgtgttcatg
      481 tacagttttt tgatgacagc ccaacaaggg gctgggttag caaaaggctt ttaaagccat
      541 atacaggttc aaaatcaaag gaagcccaga agggaggtca tttttacagt gcaaagcctg
      601 aaatactgag agcaatgcaa cgtgcagatg aagccttaaa taaagacaag attaagaggc
      661 ttgaattggc agtttgtgat gagccctcag agccagaaga ggaagaagag atggaggtag
      721 gcacaactta cgtaacagat aagagtgaag aagataatga aattgagagt gaagaggaag
      781 tacagcctaa gacacaagga tctaggcgaa gtagccgcca aataaaaaaa cgaagggtca
      841 tatcagattc tgagagtgac attggtggct ctgatgtgga atttaagcca gacactaagg
      901 aggaaggaag cagtgatgaa ataagcagtg gagtggggga tagtgagagt gaaggcctga
      961 acagccctgt caaagttgct cgaaagcgga agagaatggt gactggaaat ggctctctta
     1021 aaaggaaaag ctctaggaag gaaacgccct cagccaccaa acaagcaact agcatttcat
     1081 cagaaaccaa gaatactttg agagctttct ctgcccctca aaattctgaa tcccaagccc
     1141 acgttagtgg aggtggtgat gacagtagtc gccctactgt ttggtatcat gaaactttag
     1201 aatggcttaa ggaggaaaag agaagagatg agcacaggag gaggcctgat caccccgatt
     1261 ttgatgcatc tacactctat gtgcctgagg atttcctcaa ttcttgtact cctgggatga
     1321 ggaagtggtg gcagattaag tctcagaact ttgatcttgt catctgttac aaggtgggga
     1381 aattttatga gctgtaccac atggatgctc ttattggagt cagtgaactg gggctggtat
     1441 tcatgaaagg caactgggcc cattctggct ttcctgaaat tgcatttggc cgttattcag
     1501 attccctggt gcagaagggc tataaagtag cacgagtgga acagactgag actccagaaa
     1561 tgatggaggc acgatgtaga aagatggcac atatatccaa gtatgataga gtggtgagga
     1621 gggagatctg taggatcatt accaagggta cacagactta cagtgtgctg gaaggtgatc
     1681 cctctgagaa ctacagtaag tatcttctta gcctcaaaga aaaagaggaa gattcttctg
     1741 gccatactcg tgcatatggt gtgtgctttg ttgatacttc actgggaaag tttttcatag
     1801 gtcagttttc agatgatcgc cattgttcga gatttaggac tctagtggca cactatcccc
     1861 cagtacaagt tttatttgaa aaaggaaatc tctcaaagga aactaaaaca attctaaaga
     1921 gttcattgtc ctgttctctt caggaaggtc tgatacccgg ctcccagttt tgggatgcat
     1981 ccaaaacttt gagaactctc cttgaggaag aatattttag ggaaaagcta agtgatggca
     2041 ttggggtgat gttaccccag gtgcttaaag gtatgacttc agagtctgat tccattgggt
     2101 tgacaccagg agagaaaagt gaattggccc tctctgctct aggtggttgt gtcttctacc
     2161 tcaaaaaatg ccttattgat caggagcttt tatcaatggc taattttgaa gaatatattc
     2221 ccttggattc tgacacagtc agcactacaa gatctggtgc tatcttcacc aaagcctatc
     2281 aacgaatggt gctagatgca gtgacattaa acaacttgga gatttttctg aatggaacaa
     2341 atggttctac tgaaggaacc ctactagaga gggttgatac ttgccatact ccttttggta
     2401 agcggctcct aaagcaatgg ctttgtgccc cactctgtaa ccattatgct attaatgatc
     2461 gtctagatgc catagaagac ctcatggttg tgcctgacaa aatctccgaa gttgtagagc
     2521 ttctaaagaa gcttccagat cttgagaggc tactcagtaa aattcataat gttgggtctc
     2581 ccctgaagag tcagaaccac ccagacagca gggctataat gtatgaagaa actacataca
     2641 gcaagaagaa gattattgat tttctttctg ctctggaagg attcaaagta atgtgtaaaa
     2701 ttatagggat catggaagaa gttgctgatg gttttaagtc taaaatcctt aagcaggtca
     2761 tctctctgca gacaaaaaat cctgaaggtc gttttcctga tttgactgta gaattgaacc
     2821 gatgggatac agcctttgac catgaaaagg ctcgaaagac tggacttatt actcccaaag
     2881 caggctttga ctctgattat gaccaagctc ttgctgacat aagagaaaat gaacagagcc
     2941 tcctggaata cctagagaaa cagcgcaaca gaattggctg taggaccata gtctattggg
     3001 ggattggtag gaaccgttac cagctggaaa ttcctgagaa tttcaccact cgcaatttgc
     3061 cagaagaata cgagttgaaa tctaccaaga agggctgtaa acgatactgg accaaaacta
     3121 ttgaaaagaa gttggctaat ctcataaatg ctgaagaacg gagggatgta tcattgaagg
     3181 actgcatgcg gcgactgttc tataactttg ataaaaatta caaggactgg cagtctgctg
     3241 tagagtgtat cgcagtgttg gatgttttac tgtgcctggc taactatagt cgagggggtg
     3301 atggtcctat gtgtcgccca gtaattctgt tgccggaaga tacccccccc ttcttagagc
     3361 ttaaaggatc acgccatcct tgcattacga agactttttt tggagatgat tttattccta
     3421 atgacattct aataggctgt gaggaagagg agcaggaaaa tggcaaagcc tattgtgtgc
     3481 ttgttactgg accaaatatg gggggcaagt ctacgcttat gagacaggct ggcttattag
     3541 ctgtaatggc ccagatgggt tgttacgtcc ctgctgaagt gtgcaggctc acaccaattg
     3601 atagagtgtt tactagactt ggtgcctcag acagaataat gtcaggtgaa agtacatttt
     3661 ttgttgaatt aagtgaaact gccagcatac tcatgcatgc aacagcacat tctctggtgc
     3721 ttgtggatga attaggaaga ggtactgcaa catttgatgg gacggcaata gcaaatgcag
     3781 ttgttaaaga acttgctgag actataaaat gtcgtacatt attttcaact cactaccatt
     3841 cattagtaga agattattct caaaatgttg ctgtgcgcct aggacatatg gcatgcatgg
     3901 tagaaaatga atgtgaagac cccagccagg agactattac gttcctctat aaattcatta
     3961 agggagcttg tcctaaaagc tatggcttta atgcagcaag gcttgctaat ctcccagagg
     4021 aagttattca aaagggacat agaaaagcaa gagaatttga gaagatgaat cagtcactac
     4081 gattatttcg ggaagtttgc ctggctagtg aaaggtcaac tgtagatgct gaagctgtcc
     4141 ataaattgct gactttgatt aaggaattat agactgacta cattggaagc tttgagttga
     4201 cttctgacaa aggtggtaaa ttcagacaac attatgatct aataaacttt attttttaaa
     4261 aatga
//
LOCUS       NM_000180               3680 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens guanylate cyclase 2D, retinal (GUCY2D), mRNA.
ACCESSION   NM_000180
VERSION     NM_000180.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3680)
  AUTHORS   Gao Y, Ren X, Lin H, Li K, Xiao L, Wang X, Zeng Z, Ran R, Tao Y, Lin
            Y, Fu X, Yan N and Zhang M.
  TITLE     Phenotypic characterization of autosomal dominant progressive cone
            dystrophies associated with a heterozygous variant c.2512C>T of
            GUCY2D gene in a large kindred
  JOURNAL   Eye (Lond) 37 (12), 2461-2469 (2023)
   PUBMED   36509996
  REMARK    GeneRIF: Phenotypic characterization of autosomal dominant
            progressive cone dystrophies associated with a heterozygous variant
            c.2512C>T of GUCY2D gene in a large kindred.
REFERENCE   2  (bases 1 to 3680)
  AUTHORS   Donato L, Alibrandi S, Scimone C, Rinaldi C, Dascola A, Calamuneri
            A, D'Angelo R and Sidoti A.
  TITLE     The impact of modifier genes on cone-rod dystrophy heterogeneity: An
            explorative familial pilot study and a hypothesis on
            neurotransmission impairment
  JOURNAL   PLoS One 17 (12), e0278857 (2022)
   PUBMED   36490268
  REMARK    GeneRIF: The impact of modifier genes on cone-rod dystrophy
            heterogeneity: An explorative familial pilot study and a hypothesis
            on neurotransmission impairment. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3680)
  AUTHORS   Peshenko IV, Olshevskaya EV and Dizhoor AM.
  TITLE     Retinal degeneration-3 protein attenuates photoreceptor degeneration
            in transgenic mice expressing dominant mutation of human retinal
            guanylyl cyclase
  JOURNAL   J Biol Chem 297 (4), 101201 (2021)
   PUBMED   34537244
  REMARK    GeneRIF: Retinal degeneration-3 protein attenuates photoreceptor
            degeneration in transgenic mice expressing dominant mutation of
            human retinal guanylyl cyclase.
REFERENCE   4  (bases 1 to 3680)
  AUTHORS   Gul H, Haleem Shah A, Harripaul R, Wajid Abbasi S, Faheem M, Zubair
            M, Muzammal M, Khan S, B Vincent J and Ahmad Khan M.
  TITLE     Homozygosity mapping coupled with whole-exome sequencing and protein
            modelling identified a novel missense mutation in GUCY2D in a
            consanguineous Pakistani family with Leber congenital amaurosis
  JOURNAL   J Genet 100 (2021)
   PUBMED   34470921
  REMARK    GeneRIF: Homozygosity mapping coupled with whole-exome sequencing
            and protein modelling identified a novel missense mutation in GUCY2D
            in a consanguineous Pakistani family with Leber congenital
            amaurosis.
REFERENCE   5  (bases 1 to 3680)
  AUTHORS   Lowe DG, Dizhoor AM, Liu K, Gu Q, Spencer M, Laura R, Lu L and
            Hurley JB.
  TITLE     Cloning and expression of a second photoreceptor-specific membrane
            retina guanylyl cyclase (RetGC), RetGC-2
  JOURNAL   Proc Natl Acad Sci U S A 92 (12), 5535-5539 (1995)
   PUBMED   7777544
REFERENCE   6  (bases 1 to 3680)
  AUTHORS   Oliveira L, Miniou P, Viegas-Pequignot E, Rozet JM, Dollfus H and
            Pittler SJ.
  TITLE     Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1
  JOURNAL   Genomics 22 (2), 478-481 (1994)
   PUBMED   7806240
REFERENCE   7  (bases 1 to 3680)
  AUTHORS   Dizhoor AM, Lowe DG, Olshevskaya EV, Laura RP and Hurley JB.
  TITLE     The human photoreceptor membrane guanylyl cyclase, RetGC, is present
            in outer segments and is regulated by calcium and a soluble
            activator
  JOURNAL   Neuron 12 (6), 1345-1352 (1994)
   PUBMED   7912093
REFERENCE   8  (bases 1 to 3680)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   30285347
REFERENCE   9  (bases 1 to 3680)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301475
REFERENCE   10  (bases 1 to 3680)
  AUTHORS   Shyjan AW, de Sauvage FJ, Gillett NA, Goeddel DV and Lowe DG.
  TITLE     Molecular cloning of a retina-specific membrane guanylyl cyclase
  JOURNAL   Neuron 9 (4), 727-737 (1992)
   PUBMED   1356371
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M92432.1, SRR14372080.616641.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000254854.5/ ENSP00000254854.4
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104581.22.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 1, 2019 this sequence version replaced NM_000180.3.
            Summary: This gene encodes a retina-specific guanylate cyclase,
            which is a member of the membrane guanylyl cyclase family. Like
            other membrane guanylyl cyclases, this enzyme has a hydrophobic
            amino-terminal signal sequence followed by a large extracellular
            domain, a single membrane spanning domain, a kinase homology
            domain, and a guanylyl cyclase catalytic domain. In contrast to
            other membrane guanylyl cyclases, this enzyme is not activated by
            natriuretic peptides. Mutations in this gene result in Leber
            congenital amaurosis and cone-rod dystrophy-6 diseases. [provided
            by RefSeq, Dec 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3680
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..3680
                     /gene="GUCY2D"
                     /gene_synonym="CACD; CACD1; CG-E; CORD5; CORD6; CSNB1I;
                     CYGD; GUC1A4; GUC2D; LCA; LCA1; RCD2; retGC; RETGC-1;
                     ROS-GC1; ROSGC"
                     /note="guanylate cyclase 2D, retinal"
                     /db_xref="GeneID:3000"
                     /db_xref="HGNC:HGNC:4689"
                     /db_xref="MIM:600179"
     misc_feature    76..78
                     /gene="GUCY2D"
                     /gene_synonym="CACD; CACD1; CG-E; CORD5; CORD6; CSNB1I;
                     CYGD; GUC1A4; GUC2D; LCA; LCA1; RCD2; retGC; RETGC-1;
                     ROS-GC1; ROSGC"
                     /note="upstream in-frame stop codon"
     CDS             130..3441
                     /gene="GUCY2D"
                     /gene_synonym="CACD; CACD1; CG-E; CORD5; CORD6; CSNB1I;
                     CYGD; GUC1A4; GUC2D; LCA; LCA1; RCD2; retGC; RETGC-1;
                     ROS-GC1; ROSGC"
                     /EC_number="4.6.1.2"
                     /note="ROS-GC; rod outer segment membrane guanylate
                     cyclase; cone rod dystrophy 6; retinal guanylate cyclase 1;
                     guanylate cyclase 2D, membrane (retina-specific); central
                     areolar choroidal dystrophy"
                     /codon_start=1
                     /product="retinal guanylyl cyclase 1"
                     /protein_id="NP_000171.1"
                     /db_xref="CCDS:CCDS11127.1"
                     /db_xref="GeneID:3000"
                     /db_xref="HGNC:HGNC:4689"
                     /db_xref="MIM:600179"
                     /translation="MTACARRAGGLPDPGLCGPAWWAPSLPRLPRALPRLPLLLLLLLL
                     QPPALSAVFTVGVLGPWACDPIFSRARPDLAARLAAARLNRDPGLAGGPRFEVALLPEP
                     CRTPGSLGAVSSALARVSGLVGPVNPAACRPAELLAEEAGIALVPWGCPWTQAEGTTAP
                     AVTPAADALYALLRAFGWARVALVTAPQDLWVEAGRSLSTALRARGLPVASVTSMEPLD
                     LSGAREALRKVRDGPRVTAVIMVMHSVLLGGEEQRYLLEAAEELGLTDGSLVFLPFDTI
                     HYALSPGPEALAALANSSQLRRAHDAVLTLTRHCPSEGSVLDSLRRAQERRELPSDLNL
                     QQVSPLFGTIYDAVFLLARGVAEARAAAGGRWVSGAAVARHIRDAQVPGFCGDLGGDEE
                     PPFVLLDTDAAGDRLFATYMLDPARGSFLSAGTRMHFPRGGSAPGPDPSCWFDPNNICG
                     GGLEPGLVFLGFLLVVGMGLAGAFLAHYVRHRLLHMQMVSGPNKIILTVDDITFLHPHG
                     GTSRKVAQGSRSSLGARSMSDIRSGPSQHLDSPNIGVYEGDRVWLKKFPGDQHIAIRPA
                     TKTAFSKLQELRHENVALYLGLFLARGAEGPAALWEGNLAVVSEHCTRGSLQDLLAQRE
                     IKLDWMFKSSLLLDLIKGIRYLHHRGVAHGRLKSRNCIVDGRFVLKITDHGHGRLLEAQ
                     KVLPEPPRAEDQLWTAPELLRDPALERRGTLAGDVFSLAIIMQEVVCRSAPYAMLELTP
                     EEVVQRVRSPPPLCRPLVSMDQAPVECILLMKQCWAEQPELRPSMDHTFDLFKNINKGR
                     KTNIIDSMLRMLEQYSSNLEDLIRERTEELELEKQKTDRLLTQMLPPSVAEALKTGTPV
                     EPEYFEQVTLYFSDIVGFTTISAMSEPIEVVDLLNDLYTLFDAIIGSHDVYKVETIGDA
                     YMVASGLPQRNGQRHAAEIANMSLDILSAVGTFRMRHMPEVPVRIRIGLHSGPCVAGVV
                     GLTMPRYCLFGDTVNTASRMESTGLPYRIHVNLSTVGILRALDSGYQVELRGRTELKGK
                     GAEDTFWLVGRRGFNKPIPKPPDLQPGSSNHGISLQEIPPERRRKLEKARPGQFS"
     misc_feature    1018..1020
                     /gene="GUCY2D"
                     /gene_synonym="CACD; CACD1; CG-E; CORD5; CORD6; CSNB1I;
                     CYGD; GUC1A4; GUC2D; LCA; LCA1; RCD2; retGC; RETGC-1;
                     ROS-GC1; ROSGC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q02846.2); glycosylation site"
     misc_feature    1516..1590
                     /gene="GUCY2D"
                     /gene_synonym="CACD; CACD1; CG-E; CORD5; CORD6; CSNB1I;
                     CYGD; GUC1A4; GUC2D; LCA; LCA1; RCD2; retGC; RETGC-1;
                     ROS-GC1; ROSGC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02846.2);
                     transmembrane region"
     misc_feature    3322..3438
                     /gene="GUCY2D"
                     /gene_synonym="CACD; CACD1; CG-E; CORD5; CORD6; CSNB1I;
                     CYGD; GUC1A4; GUC2D; LCA; LCA1; RCD2; retGC; RETGC-1;
                     ROS-GC1; ROSGC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02846.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3659..3664
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GUCY2D"
                     /gene_synonym="CACD; CACD1; CG-E; CORD5; CORD6; CSNB1I;
                     CYGD; GUC1A4; GUC2D; LCA; LCA1; RCD2; retGC; RETGC-1;
                     ROS-GC1; ROSGC"
                     /note="hexamer: AATAAA"
     polyA_site      3680
                     /gene="GUCY2D"
                     /gene_synonym="CACD; CACD1; CG-E; CORD5; CORD6; CSNB1I;
                     CYGD; GUC1A4; GUC2D; LCA; LCA1; RCD2; retGC; RETGC-1;
                     ROS-GC1; ROSGC"
                     /note="major polyA site"
ORIGIN
        1 gtacccacgc ccccgccctg gcctgggctg gcaaggaaga cctgtgggcg ggcgtcaaaa
       61 gggggaccgg ccctgtgacc cctcaccggg ggccgtgggc ccgagccccc ggacttccct
      121 aagccggcaa tgaccgcctg cgcccgccga gcgggtgggc ttccggaccc cgggctctgc
      181 ggtcccgcgt ggtgggctcc gtccctgccc cgcctccccc gggccctgcc ccggctcccg
      241 ctcctgctgc tcctgcttct gctgcagccc cccgccctct ccgccgtgtt cacggtgggg
      301 gtcctgggcc cctgggcttg cgaccccatc ttctctcggg ctcgcccgga cctggccgcc
      361 cgcctggccg ccgcccgcct gaaccgcgac cccggcctgg caggcggtcc ccgcttcgag
      421 gtagcgctgc tgcccgagcc ttgccggacg ccgggctcgc tgggggccgt gtcctccgcg
      481 ctggcccgcg tgtcgggcct cgtgggtccg gtgaaccctg cggcctgccg gccagccgag
      541 ctgctcgccg aagaagccgg gatcgcgctg gtgccctggg gctgcccctg gacgcaggcg
      601 gagggcacca cggcccctgc cgtgaccccc gccgcggatg ccctctacgc cctgcttcgc
      661 gcattcggct gggcgcgcgt ggccctggtc accgcccccc aggacctgtg ggtggaggcg
      721 ggacgctcac tgtccacggc actcagggcc cggggcctgc ctgtcgcctc cgtgacttcc
      781 atggagccct tggacctgtc tggagcccgg gaggccctga ggaaggttcg ggacgggccc
      841 agggtcacag cagtgatcat ggtgatgcac tcggtgctgc tgggtggcga ggagcagcgc
      901 tacctcctgg aggccgcaga ggagctgggc ctgaccgatg gctccctggt cttcctgccc
      961 ttcgacacga tccactacgc cttgtcccca ggcccggagg ccttggccgc actcgccaac
     1021 agctcccagc ttcgcagggc ccacgatgcc gtgctcaccc tcacgcgcca ctgtccctct
     1081 gaaggcagcg tgctggacag cctgcgcagg gctcaagagc gccgcgagct gccctctgac
     1141 ctcaatctgc agcaggtctc cccactcttt ggcaccatct atgacgcggt cttcttgctg
     1201 gcaaggggcg tggcagaagc gcgggctgcc gcaggtggca gatgggtgtc cggagcagct
     1261 gtggcccgcc acatccggga tgcgcaggtc cctggcttct gcggggacct aggaggagac
     1321 gaggagcccc cattcgtgct gctagacacg gacgcggcgg gagaccggct ttttgccaca
     1381 tacatgctgg atcctgcccg gggctccttc ctctccgccg gtacccggat gcacttcccg
     1441 cgtgggggat cagcacccgg acctgacccc tcgtgctggt tcgatccaaa caacatctgc
     1501 ggtggaggac tggagccggg cctcgtcttt cttggcttcc tcctggtggt tgggatgggg
     1561 ctggctgggg ccttcctggc ccattatgtg aggcaccggc tacttcacat gcaaatggtc
     1621 tccggcccca acaagatcat cctgaccgtg gacgacatca cctttctcca cccacatggg
     1681 ggcacctctc gaaaggtggc ccaggggagt cgatcaagtc tgggtgcccg cagcatgtca
     1741 gacattcgca gcggccccag ccaacacttg gacagcccca acattggtgt ctatgaggga
     1801 gacagggttt ggctgaagaa attcccaggg gatcagcaca tagctatccg cccagcaacc
     1861 aagacggcct tctccaagct ccaggagctc cggcatgaga acgtggccct ctacctgggg
     1921 cttttcctgg ctcggggagc agaaggccct gcggccctct gggagggcaa cctggctgtg
     1981 gtctcagagc actgcacgcg gggctctctt caggacctcc tcgctcagag agaaataaag
     2041 ctggactgga tgttcaagtc ctccctcctg ctggacctta tcaagggaat aaggtatctg
     2101 caccatcgag gcgtggctca tgggcggctg aagtcacgga actgcatagt ggatggcaga
     2161 ttcgtactca agatcactga ccacggccac gggagactgc tggaagcaca gaaggtgcta
     2221 ccggagcctc ccagagcgga ggaccagctg tggacagccc cggagctgct tagggaccca
     2281 gccctggagc gccggggaac gctggccggc gacgtcttta gcttggccat catcatgcaa
     2341 gaagtagtgt gccgcagtgc cccttatgcc atgctggagc tcactcccga ggaagtggtg
     2401 cagagggtgc ggagcccccc tccactgtgt cggcccttgg tgtccatgga ccaggcacct
     2461 gtcgagtgta tcctcctgat gaagcagtgc tgggcagagc agccggaact tcggccctcc
     2521 atggaccaca ccttcgacct gttcaagaac atcaacaagg gccggaagac gaacatcatt
     2581 gactcgatgc ttcggatgct ggagcagtac tctagtaacc tggaggatct gatccgggag
     2641 cgcacggagg agctggagct ggaaaagcag aagacagacc ggctgcttac acagatgctg
     2701 cctccgtctg tggctgaggc cttgaagacg gggacaccag tggagcccga gtactttgag
     2761 caagtgacac tgtactttag tgacattgtg ggcttcacca ccatctctgc catgagtgag
     2821 cccattgagg ttgtggacct gctcaacgat ctctacacac tctttgatgc catcattggt
     2881 tcccacgatg tctacaaggt ggagacaata ggggacgcct atatggtggc ctcggggctg
     2941 ccccagcgga atgggcagcg acacgcggca gagatcgcca acatgtcact ggacatcctc
     3001 agtgccgtgg gcactttccg catgcgccat atgcctgagg ttcccgtgcg catccgcata
     3061 ggcctgcact cgggtccatg cgtggcaggc gtggtgggcc tcaccatgcc gcggtactgc
     3121 ctgtttgggg acacggtcaa caccgcctcg cgcatggagt ccaccgggct gccttaccgc
     3181 atccacgtga acttgagcac tgtggggatt ctccgtgctc tggactcggg ctaccaggtg
     3241 gagctgcgag gccgcacgga gctgaagggc aagggcgccg aggacacttt ctggctagtg
     3301 ggcagacgcg gcttcaacaa gcccatcccc aaaccgcctg acctgcaacc ggggtccagc
     3361 aaccacggca tcagcctgca ggagatccca cccgagcggc gacggaagct ggagaaggcg
     3421 cggccgggcc agttctcttg agaagtgagg cccggccccg gacagggtct gggccctgct
     3481 ccctgtccca tctgcagtgg accccaggca cccccctttg aggaggtggg gtgaactgct
     3541 ccttggcagg gatttgtgac actgcattgc tgggctgtgt tcctcgggct cttctggacc
     3601 ttgcaccgtg gataccaggc catgtgccat ggtatttggg tcctgggagg gtgggtgaaa
     3661 taaaggcatg ctgtcttcca
//
LOCUS       NM_000181               2199 bp    mRNA    linear   PRI 12-FEB-2023
DEFINITION  Homo sapiens glucuronidase beta (GUSB), transcript variant 1, mRNA.
ACCESSION   NM_000181
VERSION     NM_000181.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2199)
  AUTHORS   Yang Y, Wang Y, Wang C, Wu S and Yao D.
  TITLE     Macrophages and derived-TNF-alpha promote lipopolysaccharide-induced
            upregulation of endogenous beta-glucuronidase in the epithelial
            cells of the bile duct: A possible facilitator of hepatolithiasis
            formation
  JOURNAL   Clin Res Hepatol Gastroenterol 47 (1), 102062 (2023)
   PUBMED   36473630
  REMARK    GeneRIF: Macrophages and derived-TNF-alpha promote
            lipopolysaccharide-induced upregulation of endogenous
            beta-glucuronidase in the epithelial cells of the bile duct: A
            possible facilitator of hepatolithiasis formation.
REFERENCE   2  (bases 1 to 2199)
  AUTHORS   Kong X, Zheng Z, Song G, Zhang Z, Liu H, Kang J, Sun G, Sun G, Huang
            T, Li X, Rong D, Wang K, Tang W and Xia Y.
  TITLE     Over-Expression of GUSB Leads to Primary Resistance of Anti-PD1
            Therapy in Hepatocellular Carcinoma
  JOURNAL   Front Immunol 13, 876048 (2022)
   PUBMED   35812439
  REMARK    GeneRIF: Over-Expression of GUSB Leads to Primary Resistance of
            Anti-PD1 Therapy in Hepatocellular Carcinoma. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 2199)
  AUTHORS   Chojnowska S, Ptaszynska-Sarosiek I, Kepka A, Szajda SD, Waszkiewicz
            N and Zwierz K.
  TITLE     Optimization of the method for alpha-l-fucosidase,
            beta-d-galactosidase and beta-d-glucuronidase determination in serum
            from hemolyzed blood
  JOURNAL   Adv Med Sci 63 (2), 306-311 (2018)
   PUBMED   29885630
  REMARK    GeneRIF: the beta-d-galactosidase, beta-d-glucuronidase and
            alpha-l-fucosidase activities in serums from hemolyzed blood, were
            determined.
REFERENCE   4  (bases 1 to 2199)
  AUTHORS   Fratz-Berilla EJ, Ketcham SA, Parhiz H, Ashraf M and Madhavarao CN.
  TITLE     An improved purification method for the lysosomal storage disease
            protein beta-glucuronidase produced in CHO cells
  JOURNAL   Protein Expr Purif 140, 28-35 (2017)
   PUBMED   28734840
  REMARK    GeneRIF: We produced GUS from a CHO cell line grown in suspension in
            a 15 L perfused bioreactor and developed a three step purification
            procedure that yields approximately 99% pure enzyme with a recovery
            of more than 40%.
REFERENCE   5  (bases 1 to 2199)
  AUTHORS   Tomatsu S, Montano AM, Dung VC, Grubb JH and Sly WS.
  TITLE     Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis
            VII (Sly Syndrome)
  JOURNAL   Hum Mutat 30 (4), 511-519 (2009)
   PUBMED   19224584
  REMARK    GeneRIF: Study summarized information on the 49 unique,
            disease-causing mutations determined so far in the GUS gene. Review
            article
REFERENCE   6  (bases 1 to 2199)
  AUTHORS   Wolfe JH, Sands MS, Barker JE, Gwynn B, Rowe LB, Vogler CA and
            Birkenmeier EH.
  TITLE     Reversal of pathology in murine mucopolysaccharidosis type VII by
            somatic cell gene transfer
  JOURNAL   Nature 360 (6406), 749-753 (1992)
   PUBMED   1465145
REFERENCE   7  (bases 1 to 2199)
  AUTHORS   Tanaka J, Gasa S, Sakurada K, Miyazaki T, Kasai M and Makita A.
  TITLE     Characterization of the subunits and sugar moiety of human placental
            and leukemic beta-glucuronidase
  JOURNAL   Biol Chem Hoppe Seyler 373 (1), 57-62 (1992)
   PUBMED   1311180
REFERENCE   8  (bases 1 to 2199)
  AUTHORS   Shipley JM, Miller RD, Wu BM, Grubb JH, Christensen SG, Kyle JW and
            Sly WS.
  TITLE     Analysis of the 5' flanking region of the human beta-glucuronidase
            gene
  JOURNAL   Genomics 10 (4), 1009-1018 (1991)
   PUBMED   1916806
REFERENCE   9  (bases 1 to 2199)
  AUTHORS   Tomatsu S, Fukuda S, Sukegawa K, Ikedo Y, Yamada S, Yamada Y, Sasaki
            T, Okamoto H, Kuwahara T, Yamaguchi S et al.
  TITLE     Mucopolysaccharidosis type VII: characterization of mutations and
            molecular heterogeneity
  JOURNAL   Am J Hum Genet 48 (1), 89-96 (1991)
   PUBMED   1702266
REFERENCE   10  (bases 1 to 2199)
  AUTHORS   Bell,C.E. Jr., Sly,W.S. and Brot,F.E.
  TITLE     Human beta-glucuronidase deficiency mucopolysaccharidosis:
            identification of cross-reactive antigen in cultured fibroblasts of
            deficient patients by enzyme immunoassay
  JOURNAL   J Clin Invest 59 (1), 97-105 (1977)
   PUBMED   401508
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK223406.1, M15182.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000304895.9/ ENSP00000302728.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC346632.1, BC014142.2 and
            BM719712.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000181.3.
            Summary: This gene encodes a hydrolase that degrades
            glycosaminoglycans, including heparan sulfate, dermatan sulfate,
            and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that
            is localized to the lysosome. Mutations in this gene result in
            mucopolysaccharidosis type VII. Alternative splicing results in
            multiple transcript variants. There are many pseudogenes of this
            locus in the human genome.[provided by RefSeq, May 2014].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2199
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.21"
     gene            1..2199
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /note="glucuronidase beta"
                     /db_xref="GeneID:2990"
                     /db_xref="HGNC:HGNC:4696"
                     /db_xref="MIM:611499"
     misc_feature    1
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /note="major transcription initiation site"
     CDS             31..1986
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /EC_number="3.2.1.31"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; beta-glucuronidase; beta-D-glucuronidase; beta-G1"
                     /codon_start=1
                     /product="beta-glucuronidase isoform 1 precursor"
                     /protein_id="NP_000172.2"
                     /db_xref="CCDS:CCDS5530.1"
                     /db_xref="GeneID:2990"
                     /db_xref="HGNC:HGNC:4696"
                     /db_xref="MIM:611499"
                     /translation="MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLW
                     SFRADFSDNRRRGFEEQWYRRPLWESGPTVDMPVPSSFNDISQDWRLRHFVGWVWYERE
                     VILPERWTQDLRTRVVLRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVGPLP
                     SRLRITIAINNTLTPTTLPPGTIQYLTDTSKYPKGYFVQNTYFDFFNYAGLQRSVLLYT
                     TPTTYIDDITVTTSVEQDSGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLK
                     VPGVSLWWPYLMHERPAYLYSLEVQLTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLING
                     KPFYFHGVNKHEDADIRGKGFDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRY
                     GIVVIDECPGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVMWSVANEPASHLES
                     AGYYLKMVIAHTKSLDPSRPVTFVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELI
                     QLQLATQFENWYKKYQKPIIQSEYGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQK
                     RRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRY
                     PHSVAKSQCLENSLFT"
     sig_peptide     31..96
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     97..1983
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /product="beta-glucuronidase isoform 1"
     misc_feature    547..549
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P08236.2); glycosylation site"
     misc_feature    844..846
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (P08236.2);
                     glycosylation site"
     misc_feature    1288..1290
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P08236.2); glycosylation site"
     misc_feature    1921..1923
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P08236.2); glycosylation site"
     regulatory      2166..2171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /note="hexamer: AATAAA"
     polyA_site      2199
                     /gene="GUSB"
                     /gene_synonym="BG; MPS7"
                     /note="major polyA site"
ORIGIN
        1 agacggtggc cgagcggggg accgggaagc atggcccggg ggtcggcggt tgcctgggcg
       61 gcgctcgggc cgttgttgtg gggctgcgcg ctggggctgc agggcgggat gctgtacccc
      121 caggagagcc cgtcgcggga gtgcaaggag ctggacggcc tctggagctt ccgcgccgac
      181 ttctctgaca accgacgccg gggcttcgag gagcagtggt accggcggcc gctgtgggag
      241 tcaggcccca ccgtggacat gccagttccc tccagcttca atgacatcag ccaggactgg
      301 cgtctgcggc attttgtcgg ctgggtgtgg tacgaacggg aggtgatcct gccggagcga
      361 tggacccagg acctgcgcac aagagtggtg ctgaggattg gcagtgccca ttcctatgcc
      421 atcgtgtggg tgaatggggt cgacacgcta gagcatgagg ggggctacct ccccttcgag
      481 gccgacatca gcaacctggt ccaggtgggg cccctgccct cccggctccg aatcactatc
      541 gccatcaaca acacactcac ccccaccacc ctgccaccag ggaccatcca atacctgact
      601 gacacctcca agtatcccaa gggttacttt gtccagaaca catattttga ctttttcaac
      661 tacgctggac tgcagcggtc tgtacttctg tacacgacac ccaccaccta catcgatgac
      721 atcaccgtca ccaccagcgt ggagcaagac agtgggctgg tgaattacca gatctctgtc
      781 aagggcagta acctgttcaa gttggaagtg cgtcttttgg atgcagaaaa caaagtcgtg
      841 gcgaatggga ctgggaccca gggccaactt aaggtgccag gtgtcagcct ctggtggccg
      901 tacctgatgc acgaacgccc tgcctatctg tattcattgg aggtgcagct gactgcacag
      961 acgtcactgg ggcctgtgtc tgacttctac acactccctg tggggatccg cactgtggct
     1021 gtcaccaaga gccagttcct catcaatggg aaacctttct atttccacgg tgtcaacaag
     1081 catgaggatg cggacatccg agggaagggc ttcgactggc cgctgctggt gaaggacttc
     1141 aacctgcttc gctggcttgg tgccaacgct ttccgtacca gccactaccc ctatgcagag
     1201 gaagtgatgc agatgtgtga ccgctatggg attgtggtca tcgatgagtg tcccggcgtg
     1261 ggcctggcgc tgccgcagtt cttcaacaac gtttctctgc atcaccacat gcaggtgatg
     1321 gaagaagtgg tgcgtaggga caagaaccac cccgcggtcg tgatgtggtc tgtggccaac
     1381 gagcctgcgt cccacctaga atctgctggc tactacttga agatggtgat cgctcacacc
     1441 aaatccttgg acccctcccg gcctgtgacc tttgtgagca actctaacta tgcagcagac
     1501 aagggggctc cgtatgtgga tgtgatctgt ttgaacagct actactcttg gtatcacgac
     1561 tacgggcacc tggagttgat tcagctgcag ctggccaccc agtttgagaa ctggtataag
     1621 aagtatcaga agcccattat tcagagcgag tatggagcag aaacgattgc agggtttcac
     1681 caggatccac ctctgatgtt cactgaagag taccagaaaa gtctgctaga gcagtaccat
     1741 ctgggtctgg atcaaaaacg cagaaaatac gtggttggag agctcatttg gaattttgcc
     1801 gatttcatga ctgaacagtc accgacgaga gtgctgggga ataaaaaggg gatcttcact
     1861 cggcagagac aaccaaaaag tgcagcgttc cttttgcgag agagatactg gaagattgcc
     1921 aatgaaacca ggtatcccca ctcagtagcc aagtcacaat gtttggaaaa cagcctgttt
     1981 acttgagcaa gactgatacc acctgcgtgt cccttcctcc ccgagtcagg gcgacttcca
     2041 cagcagcaga acaagtgcct cctggactgt tcacggcaga ccagaacgtt tctggcctgg
     2101 gttttgtggt catctattct agcagggaac actaaaggtg gaaataaaag attttctatt
     2161 atggaaataa agagttggca tgaaagtggc tactgaaaa
//
LOCUS       NM_000182               2943 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens hydroxyacyl-CoA dehydrogenase trifunctional multienzyme
            complex subunit alpha (HADHA), mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_000182
VERSION     NM_000182.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2943)
  AUTHORS   Wu ZH, Wang YH, Liu TH, Ruan LL, Xie YL, Li FF and Ding YB.
  TITLE     [HADHA Inhibits the Migration and Invasion of HTR-8/SVneo Cells by
            Regulating PI3K/AKT Signaling Pathway]
  JOURNAL   Sichuan Da Xue Xue Bao Yi Xue Ban 53 (5), 805-814 (2022)
   PUBMED   36224682
  REMARK    GeneRIF: [HADHA Inhibits the Migration and Invasion of HTR-8/SVneo
            Cells by Regulating PI3K/AKT Signaling Pathway].
REFERENCE   2  (bases 1 to 2943)
  AUTHORS   Yang J, Yuan D, Tan X, Zeng Y, Tang N, Chen D, Tan J, Cai R, Huang J
            and Yan T.
  TITLE     Analysis of a family with mitochondrial trifunctional protein
            deficiency caused by HADHA gene mutations
  JOURNAL   Mol Med Rep 25 (2) (2022)
   PUBMED   34878152
  REMARK    GeneRIF: Analysis of a family with mitochondrial trifunctional
            protein deficiency caused by HADHA gene mutations.
REFERENCE   3  (bases 1 to 2943)
  AUTHORS   Wu X, Feng R, Wang X, Guo F and Liu W.
  TITLE     Roles of hydroxyacyl-CoA dehydrogenase trifunctional multienzyme
            complex subunit alpha, a lipid metabolism enzyme, in Wilms tumor
            patients
  JOURNAL   J Cancer Res Ther 17 (5), 1281-1285 (2021)
   PUBMED   34850779
  REMARK    GeneRIF: Roles of hydroxyacyl-CoA dehydrogenase trifunctional
            multienzyme complex subunit alpha, a lipid metabolism enzyme, in
            Wilms tumor patients.
REFERENCE   4  (bases 1 to 2943)
  AUTHORS   Amoedo ND, Sarlak S, Obre E, Esteves P, Begueret H, Kieffer Y,
            Rousseau B, Dupis A, Izotte J, Bellance N, Dard L, Redonnet-Vernhet
            I, Punzi G, Rodrigues MF, Dumon E, Mafhouf W, Guyonnet-Duperat V,
            Gales L, Palama T, Bellvert F, Dugot-Senan N, Claverol S, Baste JM,
            Lacombe D, Rezvani HR, Pierri CL, Mechta-Grigoriou F, Thumerel M and
            Rossignol R.
  TITLE     Targeting the mitochondrial trifunctional protein restrains tumor
            growth in oxidative lung carcinomas
  JOURNAL   J Clin Invest 131 (1) (2021)
   PUBMED   33393495
  REMARK    GeneRIF: Targeting the mitochondrial trifunctional protein restrains
            tumor growth in oxidative lung carcinomas.
REFERENCE   5  (bases 1 to 2943)
  AUTHORS   Latruffe N.
  TITLE     Human Peroxisomal 3-Ketoacyl-CoA Thiolase: Tissue Expression and
            Metabolic Regulation : Human Peroxisomal Thiolase
  JOURNAL   Adv Exp Med Biol 1299, 161-167 (2020)
   PUBMED   33417214
  REMARK    GeneRIF: Human Peroxisomal 3-Ketoacyl-CoA Thiolase: Tissue
            Expression and Metabolic Regulation : Human Peroxisomal Thiolase.
            Review article
REFERENCE   6  (bases 1 to 2943)
  AUTHORS   Brackett JC, Sims HF, Rinaldo P, Shapiro S, Powell CK, Bennett MJ
            and Strauss AW.
  TITLE     Two alpha subunit donor splice site mutations cause human
            trifunctional protein deficiency
  JOURNAL   J Clin Invest 95 (5), 2076-2082 (1995)
   PUBMED   7738175
REFERENCE   7  (bases 1 to 2943)
  AUTHORS   Sims HF, Brackett JC, Powell CK, Treem WR, Hale DE, Bennett MJ,
            Gibson B, Shapiro S and Strauss AW.
  TITLE     The molecular basis of pediatric long chain 3-hydroxyacyl-CoA
            dehydrogenase deficiency associated with maternal acute fatty liver
            of pregnancy
  JOURNAL   Proc Natl Acad Sci U S A 92 (3), 841-845 (1995)
   PUBMED   7846063
REFERENCE   8  (bases 1 to 2943)
  AUTHORS   IJlst L, Wanders RJ, Ushikubo S, Kamijo T and Hashimoto T.
  TITLE     Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase
            deficiency: identification of the major disease-causing mutation in
            the alpha-subunit of the mitochondrial trifunctional protein
  JOURNAL   Biochim Biophys Acta 1215 (3), 347-350 (1994)
   PUBMED   7811722
REFERENCE   9  (bases 1 to 2943)
  AUTHORS   Prasun,P., LoPiccolo,M.K. and Ginevic,I.
  TITLE     Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional
            Protein Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   36063482
REFERENCE   10  (bases 1 to 2943)
  AUTHORS   Carpenter K, Pollitt RJ and Middleton B.
  TITLE     Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a
            multifunctional membrane-bound beta-oxidation enzyme of mitochondria
  JOURNAL   Biochem Biophys Res Commun 183 (2), 443-448 (1992)
   PUBMED   1550553
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: GU727642.1, BC009235.2 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000380649.8/ ENSP00000370023.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN264228.1, BC009235.2,
            AC011742.3 and AI972144.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000182.4.
            Summary: This gene encodes the alpha subunit of the mitochondrial
            trifunctional protein, which catalyzes the last three steps of
            mitochondrial beta-oxidation of long chain fatty acids. The
            mitochondrial membrane-bound heterocomplex is composed of four
            alpha and four beta subunits, with the alpha subunit catalyzing the
            3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities.
            Mutations in this gene result in trifunctional protein deficiency
            or LCHAD deficiency. The genes of the alpha and beta subunits of
            the mitochondrial trifunctional protein are located adjacent to
            each other in the human genome in a head-to-head orientation.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2943
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..2943
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="hydroxyacyl-CoA dehydrogenase trifunctional
                     multienzyme complex subunit alpha"
                     /db_xref="GeneID:3030"
                     /db_xref="HGNC:HGNC:4801"
                     /db_xref="MIM:600890"
     misc_feature    1
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="alternative transcription initiation site"
     misc_feature    12
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="major transcription initiation site"
     CDS             37..2328
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /EC_number="4.2.1.17"
                     /EC_number="1.1.1.211"
                     /note="gastrin-binding protein; long-chain 2-enoyl-CoA
                     hydratase; hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA
                     thiolase/enoyl-CoA hydratase (trifunctional protein), alpha
                     subunit; long-chain-3-hydroxyacyl-CoA dehydrogenase;
                     hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A
                     thiolase/enoyl-Coenzyme A hydratase (trifunctional
                     protein), alpha subunit; mitochondrial long-chain
                     L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha
                     subunit; 3-ketoacyl-Coenzyme A (CoA) thiolase, alpha
                     subunit; 3-oxoacyl-CoA thiolase; mitochondrial long-chain
                     2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit;
                     mitochondrial trifunctional protein, alpha subunit;
                     mitochondrial trifunctional enzyme, alpha subunit; 78 kDa
                     gastrin-binding protein; monolysocardiolipin
                     acyltransferase"
                     /codon_start=1
                     /product="trifunctional enzyme subunit alpha, mitochondrial
                     precursor"
                     /protein_id="NP_000173.2"
                     /db_xref="CCDS:CCDS1721.1"
                     /db_xref="GeneID:3030"
                     /db_xref="HGNC:HGNC:4801"
                     /db_xref="MIM:600890"
                     /translation="MVACRAIGILSRFSAFRILRSRGYICRNFTGSSALLTRTHINYGV
                     KGDVAVVRINSPNSKVNTLSKELHSEFSEVMNEIWASDQIRSAVLISSKPGCFIAGADI
                     NMLAACKTLQEVTQLSQEAQRIVEKLEKSTKPIVAAINGSCLGGGLEVAISCQYRIATK
                     DRKTVLGTPEVLLGALPGAGGTQRLPKMVGVPAALDMMLTGRSIRADRAKKMGLVDQLV
                     EPLGPGLKPPEERTIEYLEEVAITFAKGLADKKISPKRDKGLVEKLTAYAMTIPFVRQQ
                     VYKKVEEKVRKQTKGLYPAPLKIIDVVKTGIEQGSDAGYLCESQKFGELVMTKESKALM
                     GLYHGQVLCKKNKFGAPQKDVKHLAILGAGLMGAGIAQVSVDKGLKTILKDATLTALDR
                     GQQQVFKGLNDKVKKKALTSFERDSIFSNLTGQLDYQGFEKADMVIEAVFEDLSLKHRV
                     LKEVEAVIPDHCIFASNTSALPISEIAAVSKRPEKVIGMHYFSPVDKMQLLEIITTEKT
                     SKDTSASAVAVGLKQGKVIIVVKDGPGFYTTRCLAPMMSEVIRILQEGVDPKKLDSLTT
                     SFGFPVGAATLVDEVGVDVAKHVAEDLGKVFGERFGGGNPELLTQMVSKGFLGRKSGKG
                     FYIYQEGVKRKDLNSDMDSILASLKLPPKSEVSSDEDIQFRLVTRFVNEAVMCLQEGIL
                     ATPAEGDIGAVFGLGFPPCLGGPFRFVDLYGAQKIVDRLKKYEAAYGKQFTPCQLLADH
                     ANSPNKKFYQ"
     transit_peptide 37..144
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
     mat_peptide     145..2325
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /product="trifunctional enzyme subunit alpha,
                     mitochondrial"
     misc_feature    172..174
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    214..216
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    421..423
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    487..489
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="Important for long-chain enoyl-CoA hydratase
                     activity. /evidence=ECO:0000305|PubMed:30850536; propagated
                     from UniProtKB/Swiss-Prot (P40939.2); other site"
     misc_feature    532..534
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    553..555
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="Important for long-chain enoyl-CoA hydratase
                     activity. /evidence=ECO:0000305|PubMed:30850536; propagated
                     from UniProtKB/Swiss-Prot (P40939.2); other site"
     misc_feature    676..678
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    781..783
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    901..903
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    919..921
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    943..945
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    982..984
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); phosphorylation site"
     misc_feature    1012..1014
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    1036..1038
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    1084..1086
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    1093..1095
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    1219..1221
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); phosphorylation site"
     misc_feature    1231..1233
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); methylation site"
     misc_feature    1252..1254
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    1267..1269
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    1291..1293
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64428; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); phosphorylation site"
     misc_feature    1414..1416
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    1528..1530
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="Important for hydroxyacyl-coenzyme A dehydrogenase
                     activity. /evidence=ECO:0000305|PubMed:30850536; propagated
                     from UniProtKB/Swiss-Prot (P40939.2); other site"
     misc_feature    1549..1551
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    1591..1593
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    1654..1656
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    1741..1743
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    1966..1968
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    1984..1986
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64428; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); phosphorylation site"
     misc_feature    2026..2028
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    2218..2220
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    2239..2241
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     misc_feature    2302..2304
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); phosphorylation site"
     misc_feature    2311..2313
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q8BMS1; propagated from
                     UniProtKB/Swiss-Prot (P40939.2); acetylation site"
     regulatory      2684..2689
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="hexamer: AATAAA"
     polyA_site      2709
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="major polyA site"
     regulatory      2919..2924
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
                     /note="hexamer: ATTAAA"
     polyA_site      2943
                     /gene="HADHA"
                     /gene_synonym="ECHA; GBP; HADH; LCEH; LCHAD; MTPA;
                     TP-ALPHA"
ORIGIN
        1 agaggcgctc tccactgctg tcctcttcag ctcaagatgg tggcctgccg ggcgattggc
       61 atcctcagcc gcttttctgc cttcaggatc ctccgctccc gaggttatat atgccgcaat
      121 tttacagggt cttctgcttt gctgaccaga acccatatta actatggagt caaaggggat
      181 gtggcagttg ttcgaattaa ctctcccaat tcaaaggtaa atacactgag taaagagcta
      241 cattcagagt tctcagaagt tatgaatgaa atctgggcta gtgatcaaat cagaagtgcc
      301 gtccttatct catcaaagcc aggctgcttt attgcaggtg ctgatatcaa catgttagcc
      361 gcttgcaaga cccttcaaga agtaacacag ctatcacaag aagcacagag aatagttgag
      421 aaacttgaaa agtccacaaa gcctattgtg gctgccatca atggatcctg cctgggagga
      481 ggacttgagg ttgccatttc atgccaatac agaatagcaa caaaagacag aaaaacagta
      541 ttaggtaccc ctgaagtttt gctgggggcc ttaccaggag caggaggcac acaaaggctg
      601 cccaaaatgg tgggtgtgcc tgctgctttg gacatgatgc tgactggtag aagcattcgt
      661 gcagacaggg caaagaaaat gggactggtt gaccaactgg tggaacccct gggaccagga
      721 ctaaaacctc cagaggaacg gacaatagaa tacctagaag aagttgcaat tacttttgcc
      781 aaaggactag ctgataagaa gatctctcca aagagagaca agggattggt ggaaaaattg
      841 acagcgtatg ccatgactat tccatttgtc aggcaacagg tttacaaaaa agtggaagaa
      901 aaagtgcgaa agcagactaa aggcctttat cctgcacctc tgaaaataat tgatgtggta
      961 aagactggaa ttgagcaagg gagtgatgcc ggttatctct gtgaatctca gaaatttgga
     1021 gagcttgtaa tgaccaaaga atcaaaggcc ttgatgggac tctaccatgg tcaggtcctg
     1081 tgcaagaaga ataaatttgg agctccacag aaggatgtta agcatctggc tattcttggt
     1141 gcagggctga tgggagcagg catcgcccaa gtctccgtgg ataaggggct aaagactata
     1201 cttaaagatg ccaccctcac tgcgctagac cgaggacagc aacaagtgtt caaaggattg
     1261 aatgacaaag tgaagaagaa agctctaaca tcatttgaaa gggattccat cttcagcaac
     1321 ttgactgggc agcttgatta ccaaggtttt gaaaaggccg acatggtgat tgaagctgtg
     1381 tttgaggacc ttagtcttaa gcacagagtg ctaaaggaag tagaagcggt gattccagat
     1441 cactgtatct ttgccagtaa cacatctgct ctcccaatca gtgaaatcgc tgctgtcagc
     1501 aaaagacctg agaaggtgat tggcatgcac tacttctctc ccgtggacaa gatgcagctg
     1561 ctggagatta tcacgaccga gaaaacttcc aaagacacca gtgcttcagc tgtagcagtt
     1621 ggtctcaagc aggggaaggt catcattgtg gttaaggatg gacctggctt ctatactacc
     1681 aggtgtcttg cgcccatgat gtctgaagtc atccgaatcc tccaggaagg agttgacccg
     1741 aagaagctgg attccctgac cacaagcttt ggctttcctg tgggtgccgc cacactggtg
     1801 gatgaagttg gtgtggatgt agcgaaacat gtggcggaag atctgggcaa agtctttggg
     1861 gagcggtttg gaggtggaaa cccagaactg ctgacacaga tggtgtccaa gggcttccta
     1921 ggtcgtaaat ctgggaaggg cttttacatc tatcaggagg gtgtgaagag gaaggatttg
     1981 aattctgaca tggatagtat tttagcgagt ctgaagctgc ctcctaagtc tgaagtctca
     2041 tcagacgaag acatccagtt ccgcctggtg acaagatttg tgaatgaggc agtcatgtgc
     2101 ctgcaagagg ggatcttggc cacacctgca gagggagaca tcggagccgt ctttgggctt
     2161 ggcttcccgc cttgtctggg agggcctttc cgctttgtgg atctgtatgg cgcccagaag
     2221 atagtggacc ggctcaagaa atatgaagct gcctatggaa aacagttcac cccatgccag
     2281 ctgctagctg accatgctaa cagccctaac aagaagttct accagtgagc aggcctcatg
     2341 cctcgctcag tcagtgcact aaccccagct gccggcagtg ctggttctcc aacagagtgg
     2401 tgtctagatt tatcagagta acgagaagac aaactccggc actgggtttg ctccctgatt
     2461 aaagtgcctt cagccaagac catctctccc tcctggtgaa gtgtgacttc gaattagttt
     2521 gcacttcctg ttggaaggta gagcccactg ctcattgtat aagccccgag gcctagagtg
     2581 gcagccaaga gccatctgaa gccacctctc tgcctgttcc tcccaagagg ccagggtggc
     2641 caggggtggt gagggcagtt ctgcacccag ccaaacacat aacaataaaa accaaactct
     2701 gtgtcagcat ctttgccctt ctggtttaaa cgcctccttc aaaaagcaat ctggaagaaa
     2761 gccctgtgct ttgggggagt aagaatgtgt gtgcagaatt ctaggcagca ccttagggag
     2821 ggactgggat gagagaaagt gggacctggt gggctcaacc acacacacct gtctgtgcag
     2881 atgctttgcc caggcttctc accacggtgt accgggatat taaacctctt tccccagcct
     2941 gga
//
LOCUS       NM_000183               1997 bp    mRNA    linear   PRI 29-MAR-2023
DEFINITION  Homo sapiens hydroxyacyl-CoA dehydrogenase trifunctional multienzyme
            complex subunit beta (HADHB), transcript variant 1, mRNA; nuclear
            gene for mitochondrial product.
ACCESSION   NM_000183
VERSION     NM_000183.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1997)
  AUTHORS   Sekine Y, Yamamoto K, Kurata M, Honda A, Onishi I, Kinowaki Y,
            Kawade G, Watabe S, Nomura S, Fukuda S, Ishibashi S, Ikeda M,
            Yamamoto M and Kitagawa M.
  TITLE     HADHB, a fatty acid beta-oxidation enzyme, is a potential prognostic
            predictor in malignant lymphoma
  JOURNAL   Pathology 54 (3), 286-293 (2022)
   PUBMED   34531036
  REMARK    GeneRIF: HADHB, a fatty acid beta-oxidation enzyme, is a potential
            prognostic predictor in malignant lymphoma.
REFERENCE   2  (bases 1 to 1997)
  AUTHORS   Dagher R, Massie R and Gentil BJ.
  TITLE     MTP deficiency caused by HADHB mutations: Pathophysiology and
            clinical manifestations
  JOURNAL   Mol Genet Metab 133 (1), 1-7 (2021)
   PUBMED   33744096
  REMARK    GeneRIF: MTP deficiency caused by HADHB mutations: Pathophysiology
            and clinical manifestations. Review article
REFERENCE   3  (bases 1 to 1997)
  AUTHORS   Friesen M, Warren CR, Yu H, Toyohara T, Ding Q, Florido MHC, Sayre
            C, Pope BD, Goff LA, Rinn JL and Cowan CA.
  TITLE     Mitoregulin Controls beta-Oxidation in Human and Mouse Adipocytes
  JOURNAL   Stem Cell Reports 14 (4), 590-602 (2020)
   PUBMED   32243843
REFERENCE   4  (bases 1 to 1997)
  AUTHORS   Dumbrepatil AB, Zegalia KA, Sajja K, Kennedy RT and Marsh ENG.
  TITLE     Targeting viperin to the mitochondrion inhibits the thiolase
            activity of the trifunctional enzyme complex
  JOURNAL   J Biol Chem 295 (9), 2839-2849 (2020)
   PUBMED   31980458
  REMARK    GeneRIF: Targeting viperin to the mitochondrion inhibits the
            thiolase activity of the trifunctional enzyme complex.
REFERENCE   5  (bases 1 to 1997)
  AUTHORS   Orii KE, Orii KO, Souri M, Orii T, Kondo N, Hashimoto T and Aoyama
            T.
  TITLE     Genes for the human mitochondrial trifunctional protein alpha- and
            beta-subunits are divergently transcribed from a common promoter
            region
  JOURNAL   J Biol Chem 274 (12), 8077-8084 (1999)
   PUBMED   10075708
REFERENCE   6  (bases 1 to 1997)
  AUTHORS   Orii KE, Aoyama T, Wakui K, Fukushima Y, Miyajima H, Yamaguchi S,
            Orii T, Kondo N and Hashimoto T.
  TITLE     Genomic and mutational analysis of the mitochondrial trifunctional
            protein beta-subunit (HADHB) gene in patients with trifunctional
            protein deficiency
  JOURNAL   Hum Mol Genet 6 (8), 1215-1224 (1997)
   PUBMED   9259266
REFERENCE   7  (bases 1 to 1997)
  AUTHORS   Middleton B.
  TITLE     The mitochondrial long-chain trifunctional enzyme: 2-enoyl-CoA
            hydratase, 3-hydroxyacyl-CoA dehydrogenase and 3-oxoacyl-CoA
            thiolase
  JOURNAL   Biochem Soc Trans 22 (2), 427-431 (1994)
   PUBMED   7958339
  REMARK    Review article
REFERENCE   8  (bases 1 to 1997)
  AUTHORS   Kamijo T, Aoyama T, Komiyama A and Hashimoto T.
  TITLE     Structural analysis of cDNAs for subunits of human mitochondrial
            fatty acid beta-oxidation trifunctional protein
  JOURNAL   Biochem Biophys Res Commun 199 (2), 818-825 (1994)
   PUBMED   8135828
REFERENCE   9  (bases 1 to 1997)
  AUTHORS   Prasun,P., LoPiccolo,M.K. and Ginevic,I.
  TITLE     Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional
            Protein Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   36063482
REFERENCE   10  (bases 1 to 1997)
  AUTHORS   Carpenter K, Pollitt RJ and Middleton B.
  TITLE     Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a
            multifunctional membrane-bound beta-oxidation enzyme of mitochondria
  JOURNAL   Biochem Biophys Res Commun 183 (2), 443-448 (1992)
   PUBMED   1550553
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC066963.1, SRR1803615.269791.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000317799.10/ ENSP00000325136.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA835045.1, BC066963.1 and
            D16481.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000183.2.
            Summary: This gene encodes the beta subunit of the mitochondrial
            trifunctional protein, which catalyzes the last three steps of
            mitochondrial beta-oxidation of long chain fatty acids. The
            mitochondrial membrane-bound heterocomplex is composed of four
            alpha and four beta subunits, with the beta subunit catalyzing the
            3-ketoacyl-CoA thiolase activity. The encoded protein can also bind
            RNA and decreases the stability of some mRNAs. The genes of the
            alpha and beta subunits of the mitochondrial trifunctional protein
            are located adjacent to each other in the human genome in a
            head-to-head orientation. Mutations in this gene result in
            trifunctional protein deficiency. Alternatively spliced transcript
            variants encoding different isoforms have been described. [provided
            by RefSeq, Jul 2013].
            Transcript Variant: This variant (1) encodes the longest protein
            (isoform 1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1997
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..1997
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /note="hydroxyacyl-CoA dehydrogenase trifunctional
                     multienzyme complex subunit beta"
                     /db_xref="GeneID:3032"
                     /db_xref="HGNC:HGNC:4803"
                     /db_xref="MIM:143450"
     misc_feature    10..12
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /note="upstream in-frame stop codon"
     CDS             61..1485
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /EC_number="2.3.1.16"
                     /EC_number="2.3.1.155"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme
                     A thiolase/enoyl-Coenzyme A hydratase (trifunctional
                     protein), beta subunit; 3-ketoacyl-Coenzyme A (CoA)
                     thiolase of mitochondrial trifunctional protein, beta
                     subunit; 2-enoyl-Coenzyme A (CoA) hydratase, beta subunit;
                     beta-ketothiolase; acetyl-CoA acyltransferase;
                     trifunctional enzyme subunit beta, mitochondrial;
                     hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA
                     thiolase/enoyl-CoA hydratase (trifunctional protein), beta
                     subunit"
                     /codon_start=1
                     /product="trifunctional enzyme subunit beta, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_000174.1"
                     /db_xref="CCDS:CCDS1722.1"
                     /db_xref="GeneID:3032"
                     /db_xref="HGNC:HGNC:4803"
                     /db_xref="MIM:143450"
                     /translation="MTILTYPFKNLPTASKWALRFSIRPLSCSSQLRAAPAVQTKTKKT
                     LAKPNIRNVVVVDGVRTPFLLSGTSYKDLMPHDLARAALTGLLHRTSVPKEVVDYIIFG
                     TVIQEVKTSNVAREAALGAGFSDKTPAHTVTMACISANQAMTTGVGLIASGQCDVIVAG
                     GVELMSDVPIRHSRKMRKLMLDLNKAKSMGQRLSLISKFRFNFLAPELPAVSEFSTSET
                     MGHSADRLAAAFAVSRLEQDEYALRSHSLAKKAQDEGLLSDVVPFKVPGKDTVTKDNGI
                     RPSSLEQMAKLKPAFIKPYGTVTAANSSFLTDGASAMLIMAEEKALAMGYKPKAYLRDF
                     MYVSQDPKDQLLLGPTYATPKVLEKAGLTMNDIDAFEFHEAFSGQILANFKAMDSDWFA
                     ENYMGRKTKVGLPPLEKFNNWGGSLSLGHPFGATGCRLVMAAANRLRKEGGQYGLVAAC
                     AAGGQGHAMIVEAYPK"
     transit_peptide 61..159
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /note="Mitochondrion.
                     /evidence=ECO:0000269|PubMed:12665801,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P55084.3)"
     mat_peptide     160..1482
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /product="Trifunctional enzyme subunit beta, mitochondrial.
                     /id=PRO_0000034080"
                     /note="propagated from UniProtKB/Swiss-Prot (P55084.3)"
     misc_feature    274..276
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P55084.3); acetylation site"
     misc_feature    622..624
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P55084.3); acetylation site"
     misc_feature    937..939
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q99JY0; propagated from
                     UniProtKB/Swiss-Prot (P55084.3); acetylation site"
     misc_feature    952..954
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q99JY0; propagated from
                     UniProtKB/Swiss-Prot (P55084.3); acetylation site"
     misc_feature    1054..1056
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q99JY0; propagated from
                     UniProtKB/Swiss-Prot (P55084.3); acetylation site"
     misc_feature    1102..1104
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q99JY0; propagated from
                     UniProtKB/Swiss-Prot (P55084.3); acetylation site"
     misc_feature    1141..1143
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q99JY0; propagated from
                     UniProtKB/Swiss-Prot (P55084.3); acetylation site"
     misc_feature    1342..1344
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /note="Increases nucleophilicity of active site Cys.
                     /evidence=ECO:0000305|PubMed:30850536; propagated from
                     UniProtKB/Swiss-Prot (P55084.3); other site"
     regulatory      1976..1981
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /note="hexamer: AATAAA"
     polyA_site      1997
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /note="major polyA site"
ORIGIN
        1 acttggacct gaaccttgct ccgagaggga gtcctcgcgg acgtcagcca agattccaga
       61 atgactatct tgacttaccc ctttaaaaat cttcccactg catcaaaatg ggccctcaga
      121 ttttccataa gacctctgag ctgttcctcc cagctacgag ctgccccagc tgtccagacc
      181 aaaacgaaga agacgttagc caaacccaat ataaggaatg ttgtggtggt ggatggtgtt
      241 cgcactccat ttttgctgtc tggcacttca tataaagacc tgatgccaca tgatttggct
      301 agagcagcgc ttacgggttt gttgcatcgg accagtgtcc ctaaggaagt agttgattat
      361 atcatctttg gtacagttat tcaggaagtg aaaacaagca atgtggctag agaggctgcc
      421 cttggagctg gcttctctga caagactcct gctcacactg tcaccatggc ttgtatctct
      481 gccaaccaag ccatgaccac aggtgttggc ttgattgctt ctggccagtg tgatgtgatc
      541 gtggcaggtg gtgttgagtt gatgtccgat gtccctattc gtcactcaag gaaaatgaga
      601 aaactgatgc ttgatctcaa taaggccaaa tctatgggcc agcgactgtc tttaatctct
      661 aaattccgat ttaatttcct agcacctgag ctccctgcgg tttctgagtt ctccaccagt
      721 gagaccatgg gccactctgc agaccgactg gccgctgcct ttgctgtttc tcggctggaa
      781 caggatgaat atgcactgcg ctctcacagt ctagccaaga aggcacagga tgaaggactc
      841 ctttctgatg tggtaccctt caaagtacca ggaaaagata cagttaccaa agataatggc
      901 atccgtcctt cctcactgga gcagatggcc aaactaaaac ctgcattcat caagccctac
      961 ggcacagtga cagctgcaaa ttcttctttc ttgactgatg gtgcatctgc aatgttaatc
     1021 atggcggagg aaaaggctct ggccatgggt tataagccga aggcatattt gagggatttt
     1081 atgtatgtgt ctcaggatcc aaaagatcaa ctattacttg gaccaacata tgctactcca
     1141 aaagttctag aaaaggcagg attgaccatg aatgatattg atgcttttga atttcatgaa
     1201 gctttctcgg gtcagatttt ggcaaatttt aaagccatgg attctgattg gtttgcagaa
     1261 aactacatgg gtagaaaaac caaggttgga ttgcctcctt tggagaagtt taataactgg
     1321 ggtggatctc tgtccctggg acacccattt ggagccactg gctgcaggtt ggtcatggct
     1381 gctgccaaca gattacggaa agaaggaggc cagtatggct tagtggctgc gtgtgcagct
     1441 ggagggcagg gccatgctat gatagtggaa gcttatccaa aataatagat ccagaagaag
     1501 tgacctgaag tttctgtgca acactcacac taggcaatgc catttcaatg cattactaaa
     1561 tgacatttgt agttcctagc tcctcttagg aaaacagttc ttgtggcctt ctattaaata
     1621 gtttgcactt aagccttgcc agtgttctga gcttttcaat aatcagttta ctgctctttc
     1681 agggatttct aagccaccag aatctcacat gagatgtgtg ggtggttgtt tttggtctct
     1741 gttgtcacta aagactaaat gagggtttgc agttgggaaa gaggtcaact gagatttgga
     1801 aatcatcttt gtaatatttg caaattatac ttgttcttat ctgtgtccta aagatgtgtt
     1861 ctctataaaa tacaaaccaa cgtgcctaat taattatgga aaaataattc agaatctaaa
     1921 caccactgaa aacttataaa aaatgtttag atacataaat atggtggtca gcgttaataa
     1981 agtggagaaa tattgga
//
LOCUS       NM_000184                586 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens hemoglobin subunit gamma 2 (HBG2), mRNA.
ACCESSION   NM_000184
VERSION     NM_000184.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 586)
  AUTHORS   Vardar G, Rzayev T, Tezel KG and Ozek E.
  TITLE     Can We Estimate Late-Onset Sepsis by Serial Methemoglobin Levels? An
            Observational Study in Preterm Neonates
  JOURNAL   Fetal Pediatr Pathol 42 (5), 753-765 (2023)
   PUBMED   37318102
  REMARK    GeneRIF: Can We Estimate Late-Onset Sepsis by Serial Methemoglobin
            Levels? An Observational Study in Preterm Neonates.
REFERENCE   2  (bases 1 to 586)
  AUTHORS   Lin J, Ye Y, Shang X, Zhang Y, Wei X and Xu X.
  TITLE     TEA domain transcription factor 4 modulates repression of fetal
            haemoglobin by direct binding to the gamma-globin gene promoters
  JOURNAL   Br J Haematol 195 (5), 764-769 (2021)
   PUBMED   34569056
  REMARK    GeneRIF: TEA domain transcription factor 4 modulates repression of
            fetal haemoglobin by direct binding to the gamma-globin gene
            promoters.
REFERENCE   3  (bases 1 to 586)
  AUTHORS   Eernstman J, Veldhuisen B, Ligthart P, von Lindern M, van der Schoot
            CE and van den Akker E.
  TITLE     Novel variants in Krueppel like factor 1 that cause persistence of
            fetal hemoglobin in In(Lu) individuals
  JOURNAL   Sci Rep 11 (1), 18557 (2021)
   PUBMED   34535703
  REMARK    GeneRIF: Novel variants in Krueppel like factor 1 that cause
            persistence of fetal hemoglobin in In(Lu) individuals. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 586)
  AUTHORS   Doerfler PA, Feng R, Li Y, Palmer LE, Porter SN, Bell HW, Crossley
            M, Pruett-Miller SM, Cheng Y and Weiss MJ.
  TITLE     Activation of gamma-globin gene expression by GATA1 and NF-Y in
            hereditary persistence of fetal hemoglobin
  JOURNAL   Nat Genet 53 (8), 1177-1186 (2021)
   PUBMED   34341563
  REMARK    GeneRIF: Activation of gamma-globin gene expression by GATA1 and
            NF-Y in hereditary persistence of fetal hemoglobin.
REFERENCE   5  (bases 1 to 586)
  AUTHORS   El-Ghamrawy M, Yassa ME, Tousson AMS, El-Hady MA, Mikhaeil E,
            Mohamed NB and Khorshied MM.
  TITLE     Association between BCL11A, HSB1L-MYB, and XmnI gammaG-158 (C/T)
            gene polymorphism and hemoglobin F level in Egyptian sickle cell
            disease patients
  JOURNAL   Ann Hematol 99 (10), 2279-2288 (2020)
   PUBMED   32772141
  REMARK    GeneRIF: Association between BCL11A, HSB1L-MYB, and XmnI gammaG-158
            (C/T) gene polymorphism and hemoglobin F level in Egyptian sickle
            cell disease patients.
REFERENCE   6  (bases 1 to 586)
  AUTHORS   Fucharoen S, Shimizu K and Fukumaki Y.
  TITLE     A novel C-T transition within the distal CCAAT motif of the G
            gamma-globin gene in the Japanese HPFH: implication of factor
            binding in elevated fetal globin expression
  JOURNAL   Nucleic Acids Res 18 (17), 5245-5253 (1990)
   PUBMED   1698280
REFERENCE   7  (bases 1 to 586)
  AUTHORS   Marotta,C.A., Forget,B.G., Cohne-Solal,M., Wilson,J.T. and
            Weissman,S.M.
  TITLE     Human beta-globin messenger RNA. I. Nucleotide sequences derived
            from complementary RNA
  JOURNAL   J Biol Chem 252 (14), 5019-5031 (1977)
   PUBMED   873928
REFERENCE   8  (bases 1 to 586)
  AUTHORS   Frier,J.A. and Perutz,M.F.
  TITLE     Structure of human foetal deoxyhaemoglobin
  JOURNAL   J Mol Biol 112 (1), 97-112 (1977)
   PUBMED   881729
REFERENCE   9  (bases 1 to 586)
  AUTHORS   Brennan,S.O., Smith,M.B. and Carrell,R.W.
  TITLE     Haemoglobin F Melbourne Ggamma 16 Gly leads to Arg and haemoglobin F
            carlton Ggamma 121 Glu leads to Lys. Further evidence for varied
            activity of gamma-chain genes
  JOURNAL   Biochim Biophys Acta 490 (2), 452-455 (1977)
   PUBMED   836882
REFERENCE   10  (bases 1 to 586)
  AUTHORS   Lee-Potter,J.P., Deacon-Smith,R.A., Simpkiss,M.J., Kamuzora,H. and
            Lehmann,H.
  TITLE     A new cause of haemolytic anaemia in the newborn. A description of
            an unstable fetal haemoglobin: F Poole, alpha2-G-gamma2 130
            trptophan yeilds glycine
  JOURNAL   J Clin Pathol 28 (4), 317-320 (1975)
   PUBMED   1127124
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BG619575.1, SRR5189661.69806.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142853,
            SAMEA2149004 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000336906.6/ ENSP00000338082.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104389.8.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 26, 2018 this sequence version replaced NM_000184.2.
            Summary: The gamma globin genes (HBG1 and HBG2) are normally
            expressed in the fetal liver, spleen and bone marrow. Two gamma
            chains together with two alpha chains constitute fetal hemoglobin
            (HbF) which is normally replaced by adult hemoglobin (HbA) at
            birth. In some beta-thalassemias and related conditions, gamma
            chain production continues into adulthood. The two types of gamma
            chains differ at residue 136 where glycine is found in the G-gamma
            product (HBG2) and alanine is found in the A-gamma product (HBG1).
            The former is predominant at birth. The order of the genes in the
            beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta
            -- beta--3'. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..586
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..586
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="hemoglobin subunit gamma 2"
                     /db_xref="GeneID:3048"
                     /db_xref="HGNC:HGNC:4832"
                     /db_xref="MIM:142250"
     misc_feature    33..35
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="upstream in-frame stop codon"
     CDS             54..497
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="G-gamma globin Paulinia; methemoglobin; abnormal
                     hemoglobin; hb F Ggamma; gamma-2-globin; hemoglobin gamma-2
                     chain; hemoglobin gamma-G chain; hemoglobin, gamma G;
                     gamma-globin chain; fetal hemoglobin F subunit gamma 2"
                     /codon_start=1
                     /product="hemoglobin subunit gamma-2"
                     /protein_id="NP_000175.1"
                     /db_xref="CCDS:CCDS7755.1"
                     /db_xref="GeneID:3048"
                     /db_xref="HGNC:HGNC:4832"
                     /db_xref="MIM:142250"
                     /translation="MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDS
                     FGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENF
                     KLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH"
     misc_feature    57..59
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="N-acetylglycine, in form Hb F1.
                     /evidence=ECO:0000269|PubMed:5554303; propagated from
                     UniProtKB/Swiss-Prot (P69892.2); acetylation site"
     misc_feature    90..92
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P68871; propagated from
                     UniProtKB/Swiss-Prot (P69892.2); phosphorylation site"
     misc_feature    186..188
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P69892.2); phosphorylation site"
     misc_feature    204..206
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P69892.2); phosphorylation site"
     misc_feature    210..212
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P69892.2); phosphorylation site"
     misc_feature    231..233
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P68871; propagated from
                     UniProtKB/Swiss-Prot (P69892.2); acetylation site"
     misc_feature    300..302
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P68871; propagated from
                     UniProtKB/Swiss-Prot (P69892.2); acetylation site"
     misc_feature    471..473
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P69892.2); phosphorylation site"
     misc_feature    480..482
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P69892.2); phosphorylation site"
     misc_feature    483..485
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P69892.2); phosphorylation site"
     regulatory      557..562
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="hexamer: AATAAA"
     polyA_site      586
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="major polyA site"
ORIGIN
        1 acactcgctt ctggaacgtc tgaggttatc aataagctcc tagtccagac gccatgggtc
       61 atttcacaga ggaggacaag gctactatca caagcctgtg gggcaaggtg aatgtggaag
      121 atgctggagg agaaaccctg ggaaggctcc tggttgtcta cccatggacc cagaggttct
      181 ttgacagctt tggcaacctg tcctctgcct ctgccatcat gggcaacccc aaagtcaagg
      241 cacatggcaa gaaggtgctg acttccttgg gagatgccat aaagcacctg gatgatctca
      301 agggcacctt tgcccagctg agtgaactgc actgtgacaa gctgcatgtg gatcctgaga
      361 acttcaagct cctgggaaat gtgctggtga ccgttttggc aatccatttc ggcaaagaat
      421 tcacccctga ggtgcaggct tcctggcaga agatggtgac tggagtggcc agtgccctgt
      481 cctccagata ccactgagct cactgcccat gatgcagagc tttcaaggat aggctttatt
      541 ctgcaagcaa tcaaataata aatctattct gctaagagat cacaca
//
LOCUS       NM_000185               2203 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens serpin family D member 1 (SERPIND1), mRNA.
ACCESSION   NM_000185
VERSION     NM_000185.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2203)
  AUTHORS   Hara T, Uemoto R, Sekine A, Mitsui Y, Masuda S, Yamagami H,
            Kurahashi K, Yoshida S, Otoda T, Yuasa T, Kuroda A, Ikeda Y, Endo I,
            Honda S, Yoshimoto K, Kondo A, Tamaki T, Matsumoto T, Matsuhisa M,
            Abe M and Aihara KI.
  TITLE     Plasma Heparin Cofactor II Activity Is Inversely Associated with
            Hepatic Fibrosis of Non-Alcoholic Fatty Liver Disease in Patients
            with Type 2 Diabetes Mellitus
  JOURNAL   J Atheroscler Thromb 30 (8), 871-883 (2023)
   PUBMED   36244745
  REMARK    GeneRIF: Plasma Heparin Cofactor II Activity Is Inversely Associated
            with Hepatic Fibrosis of Non-Alcoholic Fatty Liver Disease in
            Patients with Type 2 Diabetes Mellitus.
REFERENCE   2  (bases 1 to 2203)
  AUTHORS   Bano S, Fatima S, Ahamad S, Ansari S, Gupta D, Tabish M, Rehman SU
            and Jairajpuri MA.
  TITLE     Identification and characterization of a novel isoform of heparin
            cofactor II in human liver
  JOURNAL   IUBMB Life 72 (10), 2180-2193 (2020)
   PUBMED   32827448
  REMARK    GeneRIF: Identification and characterization of a novel isoform of
            heparin cofactor II in human liver.
REFERENCE   3  (bases 1 to 2203)
  AUTHORS   Kurahashi K, Inoue S, Yoshida S, Ikeda Y, Morimoto K, Uemoto R,
            Ishikawa K, Kondo T, Yuasa T, Endo I, Miyake M, Oyadomari S,
            Matsumoto T, Abe M, Sakaue H and Aihara KI.
  TITLE     The Role of Heparin Cofactor in the Regulation of Insulin
            Sensitivity and Maintenance of Glucose Homeostasis in Humans and
            Mice
  JOURNAL   J Atheroscler Thromb 24 (12), 1215-1230 (2017)
   PUBMED   28502917
  REMARK    GeneRIF: Loss of Heparin Cofactor is associated with insulin
            resistance .
REFERENCE   4  (bases 1 to 2203)
  AUTHORS   Li J, Liu X, Xiang Y, Ding X, Wang T, Liu Y, Yin M, Tan C, Deng F
            and Chen L.
  TITLE     Alpha-2-macroglobulin and heparin cofactor II and the vulnerability
            of carotid atherosclerotic plaques: An iTRAQ-based analysis
  JOURNAL   Biochem Biophys Res Commun 483 (3), 964-971 (2017)
   PUBMED   28087279
  REMARK    GeneRIF: The plasma level of alpha2M was found positively
            correlated, while HCII level was negatively correlated with higher
            vulnerability of carotid plaques. Both proteins were efficient in
            differentiating stable and vulnerable carotid plaques. These provide
            potential new targets for the research of carotid plaque
            vulnerability. Plasma alpha2M and HCII may be potential biomarkers
            for evaluation of the vulnerability of carotid ...
REFERENCE   5  (bases 1 to 2203)
  AUTHORS   Van Deerlin VM and Tollefsen DM.
  TITLE     The N-terminal acidic domain of heparin cofactor II mediates the
            inhibition of alpha-thrombin in the presence of glycosaminoglycans
  JOURNAL   J Biol Chem 266 (30), 20223-20231 (1991)
   PUBMED   1939083
REFERENCE   6  (bases 1 to 2203)
  AUTHORS   Herzog R, Lutz S, Blin N, Marasa JC, Blinder MA and Tollefsen DM.
  TITLE     Complete nucleotide sequence of the gene for human heparin cofactor
            II and mapping to chromosomal band 22q11
  JOURNAL   Biochemistry 30 (5), 1350-1357 (1991)
   PUBMED   1671335
REFERENCE   7  (bases 1 to 2203)
  AUTHORS   Church FC, Pratt CW and Hoffman M.
  TITLE     Leukocyte chemoattractant peptides from the serpin heparin cofactor
            II
  JOURNAL   J Biol Chem 266 (2), 704-709 (1991)
   PUBMED   1985958
REFERENCE   8  (bases 1 to 2203)
  AUTHORS   Uszynski M.
  TITLE     Tissue anticoagulants in the human placenta: preliminary study with
            a heparin-like anticoagulant and review of the literature
  JOURNAL   Gynecol Obstet Invest 32 (3), 129-133 (1991)
   PUBMED   1836773
  REMARK    Review article
REFERENCE   9  (bases 1 to 2203)
  AUTHORS   Blinder MA and Tollefsen DM.
  TITLE     Site-directed mutagenesis of arginine 103 and lysine 185 in the
            proposed glycosaminoglycan-binding site of heparin cofactor II
  JOURNAL   J Biol Chem 265 (1), 286-291 (1990)
   PUBMED   2104620
REFERENCE   10  (bases 1 to 2203)
  AUTHORS   Blinder MA, Marasa JC, Reynolds CH, Deaven LL and Tollefsen DM.
  TITLE     Heparin cofactor II: cDNA sequence, chromosome localization,
            restriction fragment length polymorphism, and expression in
            Escherichia coli
  JOURNAL   Biochemistry 27 (2), 752-759 (1988)
   PUBMED   2894851
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC035028.2, SRR1803613.60943.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142853,
            SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000215727.10/ ENSP00000215727.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007308.13 and BC035028.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000185.3.
            Summary: This gene belongs to the serpin gene superfamily. Serpins
            play roles in many processes including inflammation, blood
            clotting, and cancer metastasis. Members of this family have highly
            conserved secondary structures with a reactive center loop that
            interacts with the protease active site to inhibit protease
            activity. This gene encodes a plasma serine protease that functions
            as a thrombin and chymotrypsin inhibitor. The protein is activated
            by heparin, dermatan sulfate, and glycosaminoglycans. Allelic
            variations in this gene are associated with heparin cofactor II
            deficiency. [provided by RefSeq, Jul 2015].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2203
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..2203
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10"
                     /note="serpin family D member 1"
                     /db_xref="GeneID:3053"
                     /db_xref="HGNC:HGNC:4838"
                     /db_xref="MIM:142360"
     CDS             50..1549
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10"
                     /note="serine (or cysteine) proteinase inhibitor, clade D
                     (heparin cofactor), member 1; leuserpin 2; heparin cofactor
                     2; serpin D1; protease inhibitor leuserpin-2; serpin
                     peptidase inhibitor, clade D (heparin cofactor), member 1"
                     /codon_start=1
                     /product="heparin cofactor 2 precursor"
                     /protein_id="NP_000176.2"
                     /db_xref="CCDS:CCDS13783.1"
                     /db_xref="GeneID:3053"
                     /db_xref="HGNC:HGNC:4838"
                     /db_xref="MIM:142360"
                     /translation="MKHSLNALLIFLIITSAWGGSKGPLDQLEKGGETAQSADPQWEQL
                     NNKNLSMPLLPADFHKENTVTNDWIPEGEEDDDYLDLEKIFSEDDDYIDIVDSLSVSPT
                     DSDVSAGNILQLFHGKSRIQRLNILNAKFAFNLYRVLKDQVNTFDNIFIAPVGISTAMG
                     MISLGLKGETHEQVHSILHFKDFVNASSKYEITTIHNLFRKLTHRLFRRNFGYTLRSVN
                     DLYIQKQFPILLDFKTKVREYYFAEAQIADFSDPAFISKTNNHIMKLTKGLIKDALENI
                     DPATQMMILNCIYFKGSWVNKFPVEMTHNHNFRLNEREVVKVSMMQTKGNFLAANDQEL
                     DCDILQLEYVGGISMLIVVPHKMSGMKTLEAQLTPRVVERWQKSMTNRTREVLLPKFKL
                     EKNYNLVESLKLMGIRMLFDKNGNMAGISDQRIAIDLFKHQGTITVNEEGTQATTVTTV
                     GFMPLSTQVRFTVDRPFLFLIYEHRTSCLLFMGRVANPSRS"
     sig_peptide     50..106
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     107..1546
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10"
                     /product="heparin cofactor 2"
     misc_feature    158..160
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P05546.3); phosphorylation site"
     misc_feature    194..196
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (P05546.3);
                     glycosylation site"
     misc_feature    251..286
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10"
                     /note="propagated from UniProtKB/Swiss-Prot (P05546.3);
                     Region: Chemotactic activity"
     misc_feature    266..340
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10"
                     /note="propagated from UniProtKB/Swiss-Prot (P05546.3);
                     Region: 2 X 11 AA approximate repeats, Asp/Glu-rich
                     (acidic) (hirudin-like)"
     misc_feature    284..286
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:12169660; propagated from
                     UniProtKB/Swiss-Prot (P05546.3); sulfatation site"
     misc_feature    323..325
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:12169660; propagated from
                     UniProtKB/Swiss-Prot (P05546.3); sulfatation site"
     misc_feature    611..613
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12169660,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (P05546.3);
                     glycosylation site"
     misc_feature    623..685
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10"
                     /note="propagated from UniProtKB/Swiss-Prot (P05546.3);
                     Region: Glycosaminoglycan-binding site"
     misc_feature    1208..1210
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12169660; propagated from
                     UniProtKB/Swiss-Prot (P05546.3); glycosylation site"
     misc_feature    1436..1441
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10"
                     /note="Reactive bond. /evidence=ECO:0000250; propagated
                     from UniProtKB/Swiss-Prot (P05546.3); other site"
     regulatory      2179..2184
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10"
                     /note="hexamer: AATAAA"
     polyA_site      2203
                     /gene="SERPIND1"
                     /gene_synonym="D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10"
                     /note="major polyA site"
ORIGIN
        1 atctctgaag cgccacttct cagaaacaca gagctttagc tccgccaaaa tgaaacactc
       61 attaaacgca cttctcattt tcctcatcat aacatctgcg tggggtggga gcaaaggccc
      121 gctggatcag ctagagaaag gaggggaaac tgctcagtct gcagatcccc agtgggagca
      181 gttaaataac aaaaacctga gcatgcctct tctccctgcc gacttccaca aggaaaacac
      241 cgtcaccaac gactggattc cagaggggga ggaggacgac gactatctgg acctggagaa
      301 gatattcagt gaagacgacg actacatcga catcgtcgac agtctgtcag tttccccgac
      361 agactctgat gtgagtgctg ggaacatcct ccagcttttt catggcaaga gccggatcca
      421 gcgtcttaac atcctcaacg ccaagttcgc tttcaacctc taccgagtgc tgaaagacca
      481 ggtcaacact ttcgataaca tcttcatagc acccgttggc atttctactg cgatgggtat
      541 gatttcctta ggtctgaagg gagagaccca tgaacaagtg cactcgattt tgcattttaa
      601 agactttgtt aatgccagca gcaagtatga aatcacgacc attcataatc tcttccgtaa
      661 gctgactcat cgcctcttca ggaggaattt tgggtacaca ctgcggtcag tcaatgacct
      721 ttatatccag aagcagtttc caatcctgct tgacttcaaa actaaagtaa gagagtatta
      781 ctttgctgag gcccagatag ctgacttctc agaccctgcc ttcatatcaa aaaccaacaa
      841 ccacatcatg aagctcacca agggcctcat aaaagatgct ctggagaata tagaccctgc
      901 tacccagatg atgattctca actgcatcta cttcaaagga tcctgggtga ataaattccc
      961 agtggaaatg acacacaacc acaacttccg gctgaatgag agagaggtag ttaaggtttc
     1021 catgatgcag accaagggga acttcctcgc agcaaatgac caggagctgg actgcgacat
     1081 cctccagctg gaatacgtgg ggggcatcag catgctaatt gtggtcccac acaagatgtc
     1141 tgggatgaag accctcgaag cgcaactgac accccgggtg gtggagagat ggcaaaaaag
     1201 catgacaaac agaactcgag aagtgcttct gccgaaattc aagctggaga agaactacaa
     1261 tctagtggag tccctgaagt tgatggggat caggatgctg tttgacaaaa atggcaacat
     1321 ggcaggcatc tcagaccaaa ggatcgccat cgacctgttc aagcaccaag gcacgatcac
     1381 agtgaacgag gaaggcaccc aagccaccac tgtgaccacg gtggggttca tgccgctgtc
     1441 cacccaagtc cgcttcactg tcgaccgccc ctttcttttc ctcatctacg agcatcgcac
     1501 cagctgcctg ctcttcatgg gaagagtggc caaccccagc aggtcctaga ggtggaggtc
     1561 taggtgtctg aagtgccttg ggggcaccct cattttgttt ccattccaac aacgagaaca
     1621 gagatgttct ggcatcattt acgtagttta cgctaccaat ctgaattcga ggcccatatg
     1681 agaggagctt agaaacgacc aagaagagag gcttgttgga atcaattctg cacaatagcc
     1741 catgctgtaa gctcatagaa gtcactgtaa ctgtagtgtg tctgctgtta cctagagggt
     1801 ctcacctccc cactcttcac agcaaacctg agcagcgcgt cctaagcacc tcccgctccg
     1861 gtgaccccat ccttgcacac ctgactctgt cactcaagcc tttctccacc aggcccctca
     1921 tctgaatacc aagcacagaa atgagtggtg tgactaattc cttacctctc ccaaggaggg
     1981 tacacaacta gcaccattct tgatgtccag ggaagaagcc acctcaagac atatgagggg
     2041 tgccctgggc taatgttagg gcttaatttt ctcaaagcct gacctttcaa atccatgatg
     2101 aatgccatca gtccctcctg ctgttgcctc cctgtgacct ggaggacagt gtgtgccatg
     2161 tctcccatac tagagataaa taaatgtagc cacatttact gtg
//
LOCUS       NM_000186               3962 bp    mRNA    linear   PRI 18-JUL-2023
DEFINITION  Homo sapiens complement factor H (CFH), transcript variant 1, mRNA.
ACCESSION   NM_000186
VERSION     NM_000186.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3962)
  AUTHORS   Chernyaeva L, Ratti G, Teirila L, Fudo S, Rankka U, Pelkonen A,
            Korhonen P, Leskinen K, Keskitalo S, Salokas K, Gkolfinopoulou C,
            Crompton KE, Javanainen M, Happonen L, Varjosalo M, Malm T, Leinonen
            V, Chroni A, Saavalainen P, Meri S, Kajander T, Wollman AJ, Nissila
            E and Haapasalo K.
  TITLE     Reduced binding of apoE4 to complement factor H promotes
            amyloid-beta oligomerization and neuroinflammation
  JOURNAL   EMBO Rep 24 (7), e56467 (2023)
   PUBMED   37155564
  REMARK    GeneRIF: Reduced binding of apoE4 to complement factor H promotes
            amyloid-beta oligomerization and neuroinflammation.
REFERENCE   2  (bases 1 to 3962)
  AUTHORS   Piras R, Valoti E, Alberti M, Bresin E, Mele C, Breno M, Liguori L,
            Donadelli R, Rigoldi M, Benigni A, Remuzzi G and Noris M.
  TITLE     CFH and CFHR structural variants in atypical Hemolytic Uremic
            Syndrome: Prevalence, genomic characterization and impact on outcome
  JOURNAL   Front Immunol 13, 1011580 (2023)
   PUBMED   36793547
  REMARK    GeneRIF: CFH and CFHR structural variants in atypical Hemolytic
            Uremic Syndrome: Prevalence, genomic characterization and impact on
            outcome. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3962)
  AUTHORS   Xiang M, Zhang H, Kou L, Chen J, Xu Z and He J.
  TITLE     Low level of complement factor H increases the risk of
            cancer-related death in patients with small-cell lung cancer
  JOURNAL   Postgrad Med J 98 (1166), 919-924 (2022)
   PUBMED   37063027
  REMARK    GeneRIF: Low level of complement factor H increases the risk of
            cancer-related death in patients with small-cell lung cancer.
REFERENCE   4  (bases 1 to 3962)
  AUTHORS   Martin,B. and Smith,R.J.H.
  TITLE     C3 Glomerulopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301598
REFERENCE   5  (bases 1 to 3962)
  AUTHORS   Noris,M., Bresin,E., Mele,C. and Remuzzi,G.
  TITLE     Genetic Atypical Hemolytic-Uremic Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301541
REFERENCE   6  (bases 1 to 3962)
  AUTHORS   DiScipio RG.
  TITLE     Ultrastructures and interactions of complement factors H and I
  JOURNAL   J Immunol 149 (8), 2592-2599 (1992)
   PUBMED   1401896
REFERENCE   7  (bases 1 to 3962)
  AUTHORS   Barlow PN, Norman DG, Steinkasserer A, Horne TJ, Pearce J, Driscoll
            PC, Sim RB and Campbell ID.
  TITLE     Solution structure of the fifth repeat of factor H: a second example
            of the complement control protein module
  JOURNAL   Biochemistry 31 (14), 3626-3634 (1992)
   PUBMED   1533152
REFERENCE   8  (bases 1 to 3962)
  AUTHORS   Schwaeble W, Schwaiger H, Brooimans RA, Barbieri A, Most J,
            Hirsch-Kauffmann M, Tiefenthaler M, Lappin DF, Daha MR, Whaley K et
            al.
  TITLE     Human complement factor H. Tissue specificity in the expression of
            three different mRNA species
  JOURNAL   Eur J Biochem 198 (2), 399-404 (1991)
   PUBMED   1828229
REFERENCE   9  (bases 1 to 3962)
  AUTHORS   Estaller C, Koistinen V, Schwaeble W, Dierich MP and Weiss EH.
  TITLE     Cloning of the 1.4-kb mRNA species of human complement factor H
            reveals a novel member of the short consensus repeat family related
            to the carboxy terminal of the classical 150-kDa molecule
  JOURNAL   J Immunol 146 (9), 3190-3196 (1991)
   PUBMED   1826708
REFERENCE   10  (bases 1 to 3962)
  AUTHORS   Estaller C, Schwaeble W, Dierich M and Weiss EH.
  TITLE     Human complement factor H: two factor H proteins are derived from
            alternatively spliced transcripts
  JOURNAL   Eur J Immunol 21 (3), 799-802 (1991)
   PUBMED   1826264
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC142699.1, Y00716.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000367429.9/ ENSP00000356399.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM842566.1, Y00716.1,
            AL049744.8, BP324193.1 and BC142699.1.
            On Aug 31, 2019 this sequence version replaced NM_000186.3.
            Summary: This gene is a member of the Regulator of Complement
            Activation (RCA) gene cluster and encodes a protein with twenty
            short consensus repeat (SCR) domains. This protein is secreted into
            the bloodstream and has an essential role in the regulation of
            complement activation, restricting this innate defense mechanism to
            microbial infections. Mutations in this gene have been associated
            with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic
            nephropathy. Alternate transcriptional splice variants, encoding
            different isoforms, have been characterized. [provided by RefSeq,
            Oct 2011].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3962
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.3"
     gene            1..3962
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /note="complement factor H"
                     /db_xref="GeneID:3075"
                     /db_xref="HGNC:HGNC:4883"
                     /db_xref="MIM:134370"
     misc_feature    61..63
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /note="upstream in-frame stop codon"
     CDS             76..3771
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /EC_number="4.2.1.2"
                     /note="isoform a precursor is encoded by transcript variant
                     1; H factor 1 (complement); H factor 2 (complement);
                     beta-1H; age-related maculopathy susceptibility 1;
                     beta-1-H-globulin; factor H-like 1; adrenomedullin binding
                     protein"
                     /codon_start=1
                     /product="complement factor H isoform a precursor"
                     /protein_id="NP_000177.2"
                     /db_xref="CCDS:CCDS1385.1"
                     /db_xref="GeneID:3075"
                     /db_xref="HGNC:HGNC:4883"
                     /db_xref="MIM:134370"
                     /translation="MRLLAKIICLMLWAICVAEDCNELPPRRNTEILTGSWSDQTYPEG
                     TQAIYKCRPGYRSLGNVIMVCRKGEWVALNPLRKCQKRPCGHPGDTPFGTFTLTGGNVF
                     EYGVKAVYTCNEGYQLLGEINYRECDTDGWTNDIPICEVVKCLPVTAPENGKIVSSAME
                     PDREYHFGQAVRFVCNSGYKIEGDEEMHCSDDGFWSKEKPKCVEISCKSPDVINGSPIS
                     QKIIYKENERFQYKCNMGYEYSERGDAVCTESGWRPLPSCEEKSCDNPYIPNGDYSPLR
                     IKHRTGDEITYQCRNGFYPATRGNTAKCTSTGWIPAPRCTLKPCDYPDIKHGGLYHENM
                     RRPYFPVAVGKYYSYYCDEHFETPSGSYWDHIHCTQDGWSPAVPCLRKCYFPYLENGYN
                     QNHGRKFVQGKSIDVACHPGYALPKAQTTVTCMENGWSPTPRCIRVKTCSKSSIDIENG
                     FISESQYTYALKEKAKYQCKLGYVTADGETSGSITCGKDGWSAQPTCIKSCDIPVFMNA
                     RTKNDFTWFKLNDTLDYECHDGYESNTGSTTGSIVCGYNGWSDLPICYERECELPKIDV
                     HLVPDRKKDQYKVGEVLKFSCKPGFTIVGPNSVQCYHFGLSPDLPICKEQVQSCGPPPE
                     LLNGNVKEKTKEEYGHSEVVEYYCNPRFLMKGPNKIQCVDGEWTTLPVCIVEESTCGDI
                     PELEHGWAQLSSPPYYYGDSVEFNCSESFTMIGHRSITCIHGVWTQLPQCVAIDKLKKC
                     KSSNLIILEEHLKNKKEFDHNSNIRYRCRGKEGWIHTVCINGRWDPEVNCSMAQIQLCP
                     PPPQIPNSHNMTTTLNYRDGEKVSVLCQENYLIQEGEEITCKDGRWQSIPLCVEKIPCS
                     QPPQIEHGTINSSRSSQESYAHGTKLSYTCEGGFRISEENETTCYMGKWSSPPQCEGLP
                     CKSPPEISHGVVAHMSDSYQYGEEVTYKCFEGFGIDGPAIAKCLGEKWSHPPSCIKTDC
                     LSLPSFENAIPMGEKKDVYKAGEQVTYTCATYYKMDGASNVTCINSRWTGRPTCRDTSC
                     VNPPTVQNAYIVSRQMSKYPSGERVRYQCRSPYEMFGDEEVMCLNGNWTEPPQCKDSTG
                     KCGPPPPIDNGDITSFPLSVYAPASSVEYQCQNLYQLEGNKRITCRNGQWSEPPKCLHP
                     CVISREIMENYNIALRWTAKQKLYSRTGESVEFVCKRGYRLSSRSHTLRTTCWDGKLEY
                     PTCAKR"
     sig_peptide     76..129
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     130..3768
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /product="complement factor H isoform a"
     misc_feature    724..726
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:19139490; propagated from
                     UniProtKB/Swiss-Prot (P08603.4); glycosylation site"
     misc_feature    1660..1662
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:17591618, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:2963625; propagated from
                     UniProtKB/Swiss-Prot (P08603.4); glycosylation site"
     misc_feature    2227..2229
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17591618; propagated from
                     UniProtKB/Swiss-Prot (P08603.4); glycosylation site"
     misc_feature    2479..2481
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17591618,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P08603.4); glycosylation site"
     misc_feature    2539..2541
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17591618; propagated from
                     UniProtKB/Swiss-Prot (P08603.4); glycosylation site"
     misc_feature    2719..2721
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:17591618, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19838169;
                     propagated from UniProtKB/Swiss-Prot (P08603.4);
                     glycosylation site"
     misc_feature    2806..2808
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:17591618, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P08603.4); glycosylation site"
     misc_feature    3160..3162
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:17591618,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (P08603.4);
                     glycosylation site"
     misc_feature    3358..3360
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17591618; propagated from
                     UniProtKB/Swiss-Prot (P08603.4); glycosylation site"
     misc_feature    1411
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /note="divergenec point of the full length transcript
                     (variant 1) and the short transcript (variant 2)."
     regulatory      3943..3948
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /note="hexamer: ATTAAA"
     polyA_site      3962
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1;
                     HF; HF1; HF2; HUS"
                     /note="major polyA site"
ORIGIN
        1 acaattcttg gaagaggaga actggacgtt gtgaacagag ttagctggta aatgtcctct
       61 taaaagatcc aaaaaatgag acttctagca aagattattt gccttatgtt atgggctatt
      121 tgtgtagcag aagattgcaa tgaacttcct ccaagaagaa atacagaaat tctgacaggt
      181 tcctggtctg accaaacata tccagaaggc acccaggcta tctataaatg ccgccctgga
      241 tatagatctc ttggaaatgt aataatggta tgcaggaagg gagaatgggt tgctcttaat
      301 ccattaagga aatgtcagaa aaggccctgt ggacatcctg gagatactcc ttttggtact
      361 tttaccctta caggaggaaa tgtgtttgaa tatggtgtaa aagctgtgta tacatgtaat
      421 gaggggtatc aattgctagg tgagattaat taccgtgaat gtgacacaga tggatggacc
      481 aatgatattc ctatatgtga agttgtgaag tgtttaccag tgacagcacc agagaatgga
      541 aaaattgtca gtagtgcaat ggaaccagat cgggaatacc attttggaca agcagtacgg
      601 tttgtatgta actcaggcta caagattgaa ggagatgaag aaatgcattg ttcagacgat
      661 ggtttttgga gtaaagagaa accaaagtgt gtggaaattt catgcaaatc cccagatgtt
      721 ataaatggat ctcctatatc tcagaagatt atttataagg agaatgaacg atttcaatat
      781 aaatgtaaca tgggttatga atacagtgaa agaggagatg ctgtatgcac tgaatctgga
      841 tggcgtccgt tgccttcatg tgaagaaaaa tcatgtgata atccttatat tccaaatggt
      901 gactactcac ctttaaggat taaacacaga actggagatg aaatcacgta ccagtgtaga
      961 aatggttttt atcctgcaac ccggggaaat acagcaaaat gcacaagtac tggctggata
     1021 cctgctccga gatgtacctt gaaaccttgt gattatccag acattaaaca tggaggtcta
     1081 tatcatgaga atatgcgtag accatacttt ccagtagctg taggaaaata ttactcctat
     1141 tactgtgatg aacattttga gactccgtca ggaagttact gggatcacat tcattgcaca
     1201 caagatggat ggtcgccagc agtaccatgc ctcagaaaat gttattttcc ttatttggaa
     1261 aatggatata atcaaaatca tggaagaaag tttgtacagg gtaaatctat agacgttgcc
     1321 tgccatcctg gctacgctct tccaaaagcg cagaccacag ttacatgtat ggagaatggc
     1381 tggtctccta ctcccagatg catccgtgtc aaaacatgtt ccaaatcaag tatagatatt
     1441 gagaatgggt ttatttctga atctcagtat acatatgcct taaaagaaaa agcgaaatat
     1501 caatgcaaac taggatatgt aacagcagat ggtgaaacat caggatcaat tacatgtggg
     1561 aaagatggat ggtcagctca acccacgtgc attaaatctt gtgatatccc agtatttatg
     1621 aatgccagaa ctaaaaatga cttcacatgg tttaagctga atgacacatt ggactatgaa
     1681 tgccatgatg gttatgaaag caatactgga agcaccactg gttccatagt gtgtggttac
     1741 aatggttggt ctgatttacc catatgttat gaaagagaat gcgaacttcc taaaatagat
     1801 gtacacttag ttcctgatcg caagaaagac cagtataaag ttggagaggt gttgaaattc
     1861 tcctgcaaac caggatttac aatagttgga cctaattccg ttcagtgcta ccactttgga
     1921 ttgtctcctg acctcccaat atgtaaagag caagtacaat catgtggtcc acctcctgaa
     1981 ctcctcaatg ggaatgttaa ggaaaaaacg aaagaagaat atggacacag tgaagtggtg
     2041 gaatattatt gcaatcctag atttctaatg aagggaccta ataaaattca atgtgttgat
     2101 ggagagtgga caactttacc agtgtgtatt gtggaggaga gtacctgtgg agatatacct
     2161 gaacttgaac atggctgggc ccagctttct tcccctcctt attactatgg agattcagtg
     2221 gaattcaatt gctcagaatc atttacaatg attggacaca gatcaattac gtgtattcat
     2281 ggagtatgga cccaacttcc ccagtgtgtg gcaatagata aacttaagaa gtgcaaatca
     2341 tcaaatttaa ttatacttga ggaacattta aaaaacaaga aggaattcga tcataattct
     2401 aacataaggt acagatgtag aggaaaagaa ggatggatac acacagtctg cataaatgga
     2461 agatgggatc cagaagtgaa ctgctcaatg gcacaaatac aattatgccc acctccacct
     2521 cagattccca attctcacaa tatgacaacc acactgaatt atcgggatgg agaaaaagta
     2581 tctgttcttt gccaagaaaa ttatctaatt caggaaggag aagaaattac atgcaaagat
     2641 ggaagatggc agtcaatacc actctgtgtt gaaaaaattc catgttcaca accacctcag
     2701 atagaacacg gaaccattaa ttcatccagg tcttcacaag aaagttatgc acatgggact
     2761 aaattgagtt atacttgtga gggtggtttc aggatatctg aagaaaatga aacaacatgc
     2821 tacatgggaa aatggagttc tccacctcag tgtgaaggcc ttccttgtaa atctccacct
     2881 gagatttctc atggtgttgt agctcacatg tcagacagtt atcagtatgg agaagaagtt
     2941 acgtacaaat gttttgaagg ttttggaatt gatgggcctg caattgcaaa atgcttagga
     3001 gaaaaatggt ctcaccctcc atcatgcata aaaacagatt gtctcagttt acctagcttt
     3061 gaaaatgcca tacccatggg agagaagaag gatgtgtata aggcgggtga gcaagtgact
     3121 tacacttgtg caacatatta caaaatggat ggagccagta atgtaacatg cattaatagc
     3181 agatggacag gaaggccaac atgcagagac acctcctgtg tgaatccgcc cacagtacaa
     3241 aatgcttata tagtgtcgag acagatgagt aaatatccat ctggtgagag agtacgttat
     3301 caatgtagga gcccttatga aatgtttggg gatgaagaag tgatgtgttt aaatggaaac
     3361 tggacggaac cacctcaatg caaagattct acaggaaaat gtgggccccc tccacctatt
     3421 gacaatgggg acattacttc attcccgttg tcagtatatg ctccagcttc atcagttgag
     3481 taccaatgcc agaacttgta tcaacttgag ggtaacaagc gaataacatg tagaaatgga
     3541 caatggtcag aaccaccaaa atgcttacat ccgtgtgtaa tatcccgaga aattatggaa
     3601 aattataaca tagcattaag gtggacagcc aaacagaagc tttattcgag aacaggtgaa
     3661 tcagttgaat ttgtgtgtaa acggggatat cgtctttcat cacgttctca cacattgcga
     3721 acaacatgtt gggatgggaa actggagtat ccaacttgtg caaaaagata gaatcaatca
     3781 taaagtgcac acctttattc agaactttag tattaaatca gttctcaatt tcatttttta
     3841 tgtattgttt tactcctttt tattcatacg taaaattttg gattaatttg tgaaaatgta
     3901 attataagct gagaccggtg gctctcttct taaaagcacc atattaaatc ctggaaaact
     3961 aa
//
LOCUS       NM_000187               1674 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.
ACCESSION   NM_000187
VERSION     NM_000187.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1674)
  AUTHORS   Abdelkhalek ZS, Mahmoud IG, Omair H, Abdulhay M and Elmonem MA.
  TITLE     Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian
            patients with alkaptonuria
  JOURNAL   Sci Rep 13 (1), 14374 (2023)
   PUBMED   37658095
  REMARK    GeneRIF: Homogentisate 1,2-dioxygenase (HGD) gene variants in young
            Egyptian patients with alkaptonuria. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1674)
  AUTHORS   Bernini A, Spiga O and Santucci A.
  TITLE     Structure-Function Relationship of Homogentisate 1,2-dioxygenase:
            Understanding the Genotype-Phenotype Correlations in the Rare
            Genetic Disease Alkaptonuria
  JOURNAL   Curr Protein Pept Sci 24 (5), 380-392 (2023)
   PUBMED   36880186
  REMARK    GeneRIF: Structure-Function Relationship of Homogentisate
            1,2-dioxygenase: Understanding the Genotype-Phenotype Correlations
            in the Rare Genetic Disease Alkaptonuria. Review article
REFERENCE   3  (bases 1 to 1674)
  AUTHORS   Tao L, Deng C, Ma M, Zhang Y, Duan J, Li Y, Fang L, Zhou Y, He X,
            Wang Y, Wang M and Li L.
  TITLE     A novel mutation in the homogentisate 1,2 dioxygenase gene
            identified in Chinese Hani pediatric patients with Alkaptonuria
  JOURNAL   Clin Chim Acta 532, 164-171 (2022)
   PUBMED   35550814
  REMARK    GeneRIF: A novel mutation in the homogentisate 1,2 dioxygenase gene
            identified in Chinese Hani pediatric patients with Alkaptonuria.
REFERENCE   4  (bases 1 to 1674)
  AUTHORS   Granadino B, Beltran-Valero de Bernabe D, Fernandez-Canon JM,
            Penalva MA and Rodriguez de Cordoba S.
  TITLE     The human homogentisate 1,2-dioxygenase (HGO) gene
  JOURNAL   Genomics 43 (2), 115-122 (1997)
   PUBMED   9244427
REFERENCE   5  (bases 1 to 1674)
  AUTHORS   Gehrig A, Schmidt SR, Muller CR, Srsen S, Srsnova K and Kress W.
  TITLE     Molecular defects in alkaptonuria
  JOURNAL   Cytogenet Cell Genet 76 (1-2), 14-16 (1997)
   PUBMED   9154114
REFERENCE   6  (bases 1 to 1674)
  AUTHORS   Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo
            M, Fernandez-Ruiz E, Penalva MA and Rodriguez de Cordoba S.
  TITLE     The molecular basis of alkaptonuria
  JOURNAL   Nat Genet 14 (1), 19-24 (1996)
   PUBMED   8782815
REFERENCE   7  (bases 1 to 1674)
  AUTHORS   Hudecova S, Strakova Z and Krizanova O.
  TITLE     Purification of the homogentisic acid oxidase from mammalian liver
  JOURNAL   Int J Biochem Cell Biol 27 (12), 1357-1363 (1995)
   PUBMED   8581831
REFERENCE   8  (bases 1 to 1674)
  AUTHORS   Janocha S, Wolz W, Srsen S, Srsnova K, Montagutelli X, Guenet JL,
            Grimm T, Kress W and Muller CR.
  TITLE     The human gene for alkaptonuria (AKU) maps to chromosome 3q
  JOURNAL   Genomics 19 (1), 5-8 (1994)
   PUBMED   8188241
REFERENCE   9  (bases 1 to 1674)
  AUTHORS   Pollak MR, Chou YH, Cerda JJ, Steinmann B, La Du BN, Seidman JG and
            Seidman CE.
  TITLE     Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2
  JOURNAL   Nat Genet 5 (2), 201-204 (1993)
   PUBMED   8252048
REFERENCE   10  (bases 1 to 1674)
  AUTHORS   Introne,W.J., Perry,M. and Chen,M.
  TITLE     Alkaptonuria
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301627
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: Z75048.1, U63008.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000283871.10/ ENSP00000283871.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313563.1, AC133474.2 and
            AA861603.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000187.3.
            Summary: This gene encodes the enzyme homogentisate 1,2
            dioxygenase. This enzyme is involved in the catabolism of the amino
            acids tyrosine and phenylalanine. Mutations in this gene are the
            cause of the autosomal recessive metabolism disorder
            alkaptonuria.[provided by RefSeq, May 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1674
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.33"
     gene            1..1674
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /note="homogentisate 1,2-dioxygenase"
                     /db_xref="GeneID:3081"
                     /db_xref="HGNC:HGNC:4892"
                     /db_xref="MIM:607474"
     misc_feature    114..116
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /note="upstream in-frame stop codon"
     CDS             129..1466
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /EC_number="1.13.11.5"
                     /note="homogentisicase; homogentisate oxidase; homogentisic
                     acid oxidase; homogentisate oxygenase"
                     /codon_start=1
                     /product="homogentisate 1,2-dioxygenase"
                     /protein_id="NP_000178.2"
                     /db_xref="CCDS:CCDS3000.1"
                     /db_xref="GeneID:3081"
                     /db_xref="HGNC:HGNC:4892"
                     /db_xref="MIM:607474"
                     /translation="MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLS
                     GSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPK
                     ASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNL
                     LIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLA
                     NPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKN
                     FMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMS
                     EFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFM
                     FESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN"
     misc_feature    420..422
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q93099.2); acetylation site"
     regulatory      1650..1655
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /note="hexamer: AATAAA"
     polyA_site      1674
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /note="major polyA site"
ORIGIN
        1 agtgaagcgc agtgaagcag tgggaaccgg aatatccaaa gagtggtttg aaggagaaag
       61 aagcattgtg gctttatatc ctctgggcct gggtttcctg aagtcaccac acatagagga
      121 gagagaaaat ggctgagtta aagtacattt ctggatttgg gaatgagtgt tcttcagagg
      181 atcctcgctg cccaggttcc ctgccagaag gacagaataa tcctcaggtc tgcccctaca
      241 atctctatgc tgagcagctc tcaggatcgg ctttcacttg tccacggagc accaataaga
      301 gaagctggct gtataggatt ctaccttcag tttctcacaa gccctttgaa tccattgacg
      361 aaggccaagt cactcacaac tgggatgaag ttgatcctga tcctaaccag cttagatgga
      421 aaccatttga gattccaaaa gcatctcaga agaaagtaga ctttgtgagt ggcctgcata
      481 ccttgtgtgg agctggagac ataaagtcta acaatgggct tgctatccac attttcctct
      541 gcaatacctc catggagaac agatgctttt acaattcaga tggggacttc ttgattgttc
      601 cgcagaaagg gaaccttctc atttacaccg agtttggcaa gatgcttgta cagcccaatg
      661 agatctgcgt cattcagaga ggaatgcggt tcagcataga tgtctttgag gagaccaggg
      721 gctacatctt ggaggtctat ggtgtccact ttgagttacc tgaccttgga ccaattgggg
      781 ccaatggctt ggccaatcct cgtgatttct tgatacccat tgcctggtat gaggatcgcc
      841 aagtaccagg tggttacacg gtcattaata aataccaggg caagctgttt gctgccaaac
      901 aggatgtctc cccgttcaat gttgtggcct ggcacgggaa ttatacaccc tacaagtaca
      961 acctgaagaa tttcatggtt atcaactcag tggcctttga ccatgcagac ccatccattt
     1021 tcacagtatt gactgctaag tctgtccgcc ctggagtggc cattgctgat tttgtcatct
     1081 tcccacctcg atggggggtt gctgataaga ccttcaggcc tccttattac cataggaact
     1141 gcatgagtga gttcatggga ctcatccgag gtcactatga ggcaaagcaa ggtgggttcc
     1201 tgccaggggg agggagtcta cacagcacaa tgacccccca tggacctgat gctgactgct
     1261 ttgagaaggc cagcaaggtc aagctggcac ctgagaggat tgccgatggc accatggcat
     1321 ttatgtttga atcatcttta agtctggcgg tcacaaagtg gggactcaag gcctccaggt
     1381 gtttggatga gaactaccac aagtgctggg agccactcaa gagccacttc actcccaact
     1441 ccaggaaccc agcagaacct aattgagact ggaacattgc taccataatt aagagtagat
     1501 ttgtgaagat ttcttcagaa tctcatgctt tctggtagta ttggaggagg gggttggtta
     1561 aaatgaaaat tcacttttca tagtcaagta actcagaact tttatggaaa cgcatttgca
     1621 aagttctatg gctgtcacct taattactca ataaacttgc tggtgttctg tgga
//
LOCUS       NM_000188               3602 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens hexokinase 1 (HK1), transcript variant 1, mRNA.
ACCESSION   NM_000188
VERSION     NM_000188.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3602)
  AUTHORS   Qian Y, Chen D, Zhu Y, Wu J, Wang Y and Yang W.
  TITLE     Targeting hexokinase 1 alleviates NLRP3-mediated inflammation in
            apical periodontitis: A laboratory investigation
  JOURNAL   Int Endod J 56 (6), 734-747 (2023)
   PUBMED   36938709
  REMARK    GeneRIF: Targeting hexokinase 1 alleviates NLRP3-mediated
            inflammation in apical periodontitis: A laboratory investigation.
REFERENCE   2  (bases 1 to 3602)
  AUTHORS   Poole RL, Badonyi M, Cozens A, Foulds N, Marsh JA, Rahman S, Ross A,
            Schooley J, Straub V, Quigley AJ, FitzPatrick D and Lampe A.
  TITLE     Expanding the neurodevelopmental phenotype associated with HK1 de
            novo heterozygous missense variants
  JOURNAL   Eur J Med Genet 66 (3), 104696 (2023)
   PUBMED   36639056
  REMARK    GeneRIF: Expanding the neurodevelopmental phenotype associated with
            HK1 de novo heterozygous missense variants.
REFERENCE   3  (bases 1 to 3602)
  AUTHORS   Wakeling MN, Owens NDL, Hopkinson JR, Johnson MB, Houghton JAL,
            Dastamani A, Flaxman CS, Wyatt RC, Hewat TI, Hopkins JJ, Laver TW,
            van Heugten R, Weedon MN, De Franco E, Patel KA, Ellard S, Morgan
            NG, Cheesman E, Banerjee I, Hattersley AT, Dunne MJ, Richardson SJ
            and Flanagan SE.
  CONSRTM   International Congenital Hyperinsulinism Consortium
  TITLE     Non-coding variants disrupting a tissue-specific regulatory element
            in HK1 cause congenital hyperinsulinism
  JOURNAL   Nat Genet 54 (11), 1615-1620 (2022)
   PUBMED   36333503
  REMARK    GeneRIF: Non-coding variants disrupting a tissue-specific regulatory
            element in HK1 cause congenital hyperinsulinism.
REFERENCE   4  (bases 1 to 3602)
  AUTHORS   Chevalier B, Baatallah N, Najm M, Castanier S, Jung V, Pranke I,
            Golec A, Stoven V, Marullo S, Antigny F, Guerrera IC,
            Sermet-Gaudelus I, Edelman A and Hinzpeter A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures Identify
            Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3602)
  AUTHORS   Andreoni F, Ruzzo A and Magnani M.
  TITLE     Structure of the 5' region of the human hexokinase type I (HKI) gene
            and identification of an additional testis-specific HKI mRNA
  JOURNAL   Biochim Biophys Acta 1493 (1-2), 19-26 (2000)
   PUBMED   10978502
REFERENCE   6  (bases 1 to 3602)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 4 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301641
REFERENCE   7  (bases 1 to 3602)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
REFERENCE   8  (bases 1 to 3602)
  AUTHORS   Magnani M, Bianchi M, Casabianca A, Stocchi V, Daniele A, Altruda F,
            Ferrone M and Silengo L.
  TITLE     A recombinant human 'mini'-hexokinase is catalytically active and
            regulated by hexose 6-phosphates
  JOURNAL   Biochem J 285 (Pt 1) (Pt 1), 193-199 (1992)
   PUBMED   1637300
REFERENCE   9  (bases 1 to 3602)
  AUTHORS   Daniele A, Altruda F, Ferrone M, Silengo L, Romeo G, Archidiacono N
            and Rocchi M.
  TITLE     Mapping of human hexokinase 1 gene to 10q11----qter
  JOURNAL   Hum Hered 42 (2), 107-110 (1992)
   PUBMED   1572668
REFERENCE   10  (bases 1 to 3602)
  AUTHORS   Magnani M, Serafini G, Bianchi M, Casabianca A and Stocchi V.
  TITLE     Human hexokinase type I microheterogeneity is due to different
            amino-terminal sequences
  JOURNAL   J Biol Chem 266 (1), 502-505 (1991)
   PUBMED   1985912
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC008730.2, AK292012.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000359426.7/ ENSP00000352398.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292012.1, AB209526.1,
            AK128226.1 and BC008730.2.
            On Mar 20, 2020 this sequence version replaced NM_000188.2.
            Summary: Hexokinases phosphorylate glucose to produce
            glucose-6-phosphate, the first step in most glucose metabolism
            pathways. This gene encodes a ubiquitous form of hexokinase which
            localizes to the outer membrane of mitochondria. Mutations in this
            gene have been associated with hemolytic anemia due to hexokinase
            deficiency. Alternative splicing of this gene results in several
            transcript variants which encode different isoforms, some of which
            are tissue-specific. [provided by RefSeq, Apr 2016].
            Transcript Variant: This variant (1), HKI, encodes the ubiquitously
            expressed isoform. Its 5' end includes an exon which is unique to
            this transcript and which encodes a distinct N-terminus that
            contains the porin binding domain (PBD). The porin binding domain
            mediates association with the mitochondrial membrane.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3602
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..3602
                     /gene="HK1"
                     /gene_synonym="hexokinase; HK; HK1-ta; HK1-tb; HK1-tc; HKD;
                     HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /note="hexokinase 1"
                     /db_xref="GeneID:3098"
                     /db_xref="HGNC:HGNC:4922"
                     /db_xref="MIM:142600"
     CDS             102..2855
                     /gene="HK1"
                     /gene_synonym="hexokinase; HK; HK1-ta; HK1-tb; HK1-tc; HKD;
                     HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /EC_number="2.7.1.1"
                     /note="isoform HKI is encoded by transcript variant 1;
                     brain form hexokinase; glycolytic enzyme; hexokinase type
                     I; hexokinase IR; hexokinase-A; Neuropathy, hereditary
                     motor and sensory, Russe type"
                     /codon_start=1
                     /product="hexokinase-1 isoform HKI"
                     /protein_id="NP_000179.2"
                     /db_xref="CCDS:CCDS7292.1"
                     /db_xref="GeneID:3098"
                     /db_xref="HGNC:HGNC:4922"
                     /db_xref="MIM:142600"
                     /translation="MIAAQLLAYYFTELKDDQVKKIDKYLYAMRLSDETLIDIMTRFRK
                     EMKNGLSRDFNPTATVKMLPTFVRSIPDGSEKGDFIALDLGGSSFRILRVQVNHEKNQN
                     VHMESEVYDTPENIVHGSGSQLFDHVAECLGDFMEKRKIKDKKLPVGFTFSFPCQQSKI
                     DEAILITWTKRFKASGVEGADVVKLLNKAIKKRGDYDANIVAVVNDTVGTMMTCGYDDQ
                     HCEVGLIIGTGTNACYMEELRHIDLVEGDEGRMCINTEWGAFGDDGSLEDIRTEFDREI
                     DRGSLNPGKQLFEKMVSGMYLGELVRLILVKMAKEGLLFEGRITPELLTRGKFNTSDVS
                     AIEKNKEGLHNAKEILTRLGVEPSDDDCVSVQHVCTIVSFRSANLVAATLGAILNRLRD
                     NKGTPRLRTTVGVDGSLYKTHPQYSRRFHKTLRRLVPDSDVRFLLSESGSGKGAAMVTA
                     VAYRLAEQHRQIEETLAHFHLTKDMLLEVKKRMRAEMELGLRKQTHNNAVVKMLPSFVR
                     RTPDGTENGDFLALDLGGTNFRVLLVKIRSGKKRTVEMHNKIYAIPIEIMQGTGEELFD
                     HIVSCISDFLDYMGIKGPRMPLGFTFSFPCQQTSLDAGILITWTKGFKATDCVGHDVVT
                     LLRDAIKRREEFDLDVVAVVNDTVGTMMTCAYEEPTCEVGLIVGTGSNACYMEEMKNVE
                     MVEGDQGQMCINMEWGAFGDNGCLDDIRTHYDRLVDEYSLNAGKQRYEKMISGMYLGEI
                     VRNILIDFTKKGFLFRGQISETLKTRGIFETKFLSQIESDRLALLQVRAILQQLGLNST
                     CDDSILVKTVCGVVSRRAAQLCGAGMAAVVDKIRENRGLDRLNVTVGVDGTLYKLHPHF
                     SRIMHQTVKELSPKCNVSFLLSEDGSGKGAALITAVGVRLRTEASS"
     misc_feature    102..131
                     /gene="HK1"
                     /gene_synonym="hexokinase; HK; HK1-ta; HK1-tb; HK1-tc; HKD;
                     HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /note="propagated from UniProtKB/Swiss-Prot (P19367.3);
                     Region: Mitochondrial-binding peptide (MBP).
                     /evidence=ECO:0000305|PubMed:1985912"
     misc_feature    102..104
                     /gene="HK1"
                     /gene_synonym="hexokinase; HK; HK1-ta; HK1-tb; HK1-tc; HKD;
                     HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:25944712;
                     propagated from UniProtKB/Swiss-Prot (P19367.3);
                     acetylation site"
     misc_feature    318..722
                     /gene="HK1"
                     /gene_synonym="hexokinase; HK; HK1-ta; HK1-tb; HK1-tc; HKD;
                     HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /note="propagated from UniProtKB/Swiss-Prot (P19367.3);
                     Region: Hexokinase small subdomain 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01084"
     misc_feature    723..1442
                     /gene="HK1"
                     /gene_synonym="hexokinase; HK; HK1-ta; HK1-tb; HK1-tc; HKD;
                     HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /note="propagated from UniProtKB/Swiss-Prot (P19367.3);
                     Region: Hexokinase large subdomain 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01084"
     misc_feature    1110..1112
                     /gene="HK1"
                     /gene_synonym="hexokinase; HK; HK1-ta; HK1-tb; HK1-tc; HKD;
                     HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P05708; propagated from
                     UniProtKB/Swiss-Prot (P19367.3); phosphorylation site"
     misc_feature    1662..2066
                     /gene="HK1"
                     /gene_synonym="hexokinase; HK; HK1-ta; HK1-tb; HK1-tc; HKD;
                     HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /note="propagated from UniProtKB/Swiss-Prot (P19367.3);
                     Region: Hexokinase small subdomain 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01084"
     misc_feature    2067..2786
                     /gene="HK1"
                     /gene_synonym="hexokinase; HK; HK1-ta; HK1-tb; HK1-tc; HKD;
                     HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /note="propagated from UniProtKB/Swiss-Prot (P19367.3);
                     Region: Hexokinase large subdomain 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01084"
     regulatory      3580..3585
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HK1"
                     /gene_synonym="hexokinase; HK; HK1-ta; HK1-tb; HK1-tc; HKD;
                     HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /note="hexamer: AGTAAA"
     polyA_site      3602
                     /gene="HK1"
                     /gene_synonym="hexokinase; HK; HK1-ta; HK1-tb; HK1-tc; HKD;
                     HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /note="major polyA site"
ORIGIN
        1 gaggaggagc cgccgagcag ccgccggagg accacggctc gccagggctg cggaggaccg
       61 accgtcccca cgcctgccgc cccgcgaccc cgaccgccag catgatcgcc gcgcagctcc
      121 tggcctatta cttcacggag ctgaaggatg accaggtcaa aaagattgac aagtatctct
      181 atgccatgcg gctctccgat gaaactctca tagatatcat gactcgcttc aggaaggaga
      241 tgaagaatgg cctctcccgg gattttaatc caacagccac agtcaagatg ttgccaacat
      301 tcgtaaggtc cattcctgat ggctctgaaa agggagattt cattgccctg gatcttggtg
      361 ggtcttcctt tcgaattctg cgggtgcaag tgaatcatga gaaaaaccag aatgttcaca
      421 tggagtccga ggtttatgac accccagaga acatcgtgca cggcagtgga agccagcttt
      481 ttgatcatgt tgctgagtgc ctgggagatt tcatggagaa aaggaagatc aaggacaaga
      541 agttacctgt gggattcacg ttttcttttc cttgccaaca atccaaaata gatgaggcca
      601 tcctgatcac ctggacaaag cgatttaaag cgagcggagt ggaaggagca gatgtggtca
      661 aactgcttaa caaagccatc aaaaagcgag gggactatga tgccaacatc gtagctgtgg
      721 tgaatgacac agtgggcacc atgatgacct gtggctatga cgaccagcac tgtgaagtcg
      781 gcctgatcat cggcactggc accaatgctt gctacatgga ggaactgagg cacattgatc
      841 tggtggaagg agacgagggg aggatgtgta tcaatacaga atggggagcc tttggagacg
      901 atggatcatt agaagacatc cggacagagt ttgacaggga gatagaccgg ggatccctca
      961 accctggaaa acagctgttt gagaagatgg tcagtggcat gtacttggga gagctggttc
     1021 gactgatcct agtcaagatg gccaaggagg gcctcttatt tgaagggcgg atcaccccgg
     1081 agctgctcac ccgagggaag tttaacacca gtgatgtgtc agccatcgaa aagaataagg
     1141 aaggcctcca caatgccaaa gaaatcctga cccgcctggg agtggagccg tccgatgatg
     1201 actgtgtctc agtccagcac gtttgcacca ttgtctcatt tcgctcagcc aacttggtgg
     1261 ctgccacact gggcgccatc ttgaaccgcc tgcgtgataa caagggcaca cccaggctgc
     1321 ggaccacggt tggtgtcgac ggatctcttt acaagacgca cccacagtat tcccggcgtt
     1381 tccacaagac tctaaggcgc ttggtgccag actccgatgt gcgcttcctc ctctcggaga
     1441 gtggcagcgg caagggggct gccatggtga cggcggtggc ctaccgcttg gccgagcagc
     1501 accggcagat agaggagacc ctggctcatt tccacctcac caaggacatg ctgctggagg
     1561 tgaagaagag gatgcgggcc gagatggagc tggggctgag gaagcagacg cacaacaatg
     1621 ccgtggttaa gatgctgccc tccttcgtcc ggagaactcc cgacgggacc gagaatggtg
     1681 acttcttggc cctggatctt ggaggaacca atttccgtgt gctgctggtg aaaatccgta
     1741 gtgggaaaaa gagaacggtg gaaatgcaca acaagatcta cgccattcct attgaaatca
     1801 tgcagggcac tggggaagag ctgtttgatc acattgtctc ctgcatctct gacttcttgg
     1861 actacatggg gatcaaaggc cccaggatgc ctctgggctt cacgttctca tttccctgcc
     1921 agcagacgag tctggacgcg ggaatcttga tcacgtggac aaagggtttt aaggcaacag
     1981 actgcgtggg ccacgatgta gtcaccttac taagggatgc gataaaaagg agagaggaat
     2041 ttgacctgga cgtggtggct gtggtcaacg acacagtggg caccatgatg acctgtgctt
     2101 atgaggagcc cacctgtgag gttggactca ttgttgggac cggcagcaat gcctgctaca
     2161 tggaggagat gaagaacgtg gagatggtgg agggggacca ggggcagatg tgcatcaaca
     2221 tggagtgggg ggcctttggg gacaacgggt gtctggatga tatcaggaca cactacgaca
     2281 gactggtgga cgaatattcc ctaaatgctg ggaaacaaag gtatgagaag atgatcagtg
     2341 gtatgtacct gggtgaaatc gtccgcaaca tcttaatcga cttcaccaag aagggattcc
     2401 tcttccgagg gcagatctct gagacgctga agacccgggg catctttgag accaagtttc
     2461 tctctcagat cgagagtgac cgattagcac tgctccaggt ccgggctatc ctccagcagc
     2521 taggtctgaa tagcacctgc gatgacagta tcctcgtcaa gacagtgtgc ggggtggtgt
     2581 ccaggagggc cgcacagctg tgtggcgcag gcatggctgc ggttgtggat aagatccgcg
     2641 agaacagagg actggaccgt ctgaatgtga ctgtgggagt ggacgggaca ctctacaagc
     2701 ttcatccaca cttctccaga atcatgcacc agacggtgaa ggaactgtca ccaaaatgta
     2761 acgtgtcctt cctcctgtct gaggatggca gcggcaaggg ggccgccctc atcacggccg
     2821 tgggcgtgcg gttacgcaca gaggcaagca gctaagagtc cgggatcccc agcctactgc
     2881 ctctccagca cttctctctt caagcggcga ccccctaccc tcccagcgag ttgcgctggg
     2941 agacgctggc gccagggcct gccggcgcgg ggaggaaagc aaaatccaac taatggtata
     3001 tattgtaggg tacagaatag agcgtgtgct gttgataata tctctcaccc ggatccctcc
     3061 tcacttgccc tgccactttg catggtttga ttttgacctg gtcccccacg tgtgaagtgt
     3121 agtggcatcc atttctaatg tatgcattca tccaacagag ttatttattg gctggagatg
     3181 gaaaatcaca ccacctgaca ggccttctgg gcctccaaag cccatccttg gggttccccc
     3241 tccctgtgtg aaatgtatta tcaccagcag acactgccgg gcctccctcc cgggggcact
     3301 gcctgaaggc gagtgtgggc atagcattag ctgcttcctc ccctcctggc acccactgtg
     3361 gcctggcatc gcatcgtggt gtgtcaatgc cacaaaatcg tgtgtccgtg gaaccagtcc
     3421 tagccgcgtg tgacagtctt gcattctgtt tgtctcgtgg ggggaggtgg acagtcctgc
     3481 ggaaatgtgt cttgtctcca tttggataaa aggaaccaac caacaaacaa tgccatcact
     3541 ggaatttccc accgctttgt gagccgtgtc gtatgaccta gtaaactttg taccaattca
     3601 aa
//
LOCUS       NM_000189               5626 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens hexokinase 2 (HK2), transcript variant 1, mRNA.
ACCESSION   NM_000189
VERSION     NM_000189.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5626)
  AUTHORS   Zheng Y, Zhan Y, Zhang Y, Zhang Y, Liu Y, Xie Y, Sun Y, Qian J, Ding
            Y, Ding Y and Fang Y.
  TITLE     Hexokinase 2 confers radio-resistance in hepatocellular carcinoma by
            promoting autophagy-dependent degradation of AIMP2
  JOURNAL   Cell Death Dis 14 (8), 488 (2023)
   PUBMED   37524692
  REMARK    GeneRIF: Hexokinase 2 confers radio-resistance in hepatocellular
            carcinoma by promoting autophagy-dependent degradation of AIMP2.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5626)
  AUTHORS   Catalano G, Zaza A, Banella C, Pelosi E, Castelli G, de Marinis E,
            Smigliani A, Travaglini S, Ottone T, Divona M, Del Principe MI,
            Buccisano F, Maurillo L, Ammatuna E, Testa U, Nervi C, Venditti A,
            Voso MT and Noguera NI.
  TITLE     MCL1 regulates AML cells metabolism via direct interaction with HK2.
            Metabolic signature at onset predicts overall survival in AMLs'
            patients
  JOURNAL   Leukemia 37 (8), 1600-1610 (2023)
   PUBMED   37349598
  REMARK    GeneRIF: MCL1 regulates AML cells metabolism via direct interaction
            with HK2. Metabolic signature at onset predicts overall survival in
            AMLs' patients.
REFERENCE   3  (bases 1 to 5626)
  AUTHORS   Lin J, Fang W, Xiang Z, Wang Q, Cheng H, Chen S, Fang J, Liu J, Wang
            Q, Lu Z and Ma L.
  TITLE     Glycolytic enzyme HK2 promotes PD-L1 expression and breast cancer
            cell immune evasion
  JOURNAL   Front Immunol 14, 1189953 (2023)
   PUBMED   37377974
  REMARK    GeneRIF: Glycolytic enzyme HK2 promotes PD-L1 expression and breast
            cancer cell immune evasion. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5626)
  AUTHORS   Wang D, Wang Y, Wang H, Yang Y, Li L, Liu Y and Yin X.
  TITLE     Hsa_circ_0000591 drives osteosarcoma glycolysis and progression by
            sequestering miR-194-5p and elevating HK2 expression
  JOURNAL   Clin Exp Pharmacol Physiol 50 (6), 463-475 (2023)
   PUBMED   36809521
  REMARK    GeneRIF: Hsa_circ_0000591 drives osteosarcoma glycolysis and
            progression by sequestering miR-194-5p and elevating HK2 expression.
REFERENCE   5  (bases 1 to 5626)
  AUTHORS   Xiong X, Zhang L, Zang B, Xu D, Chen C, Dong G, Xia W and Wu Y.
  TITLE     High-risk pathological subtype associated FAM83A-AS1 promotes
            malignancy and glycolysis of lung adenocarcinoma via miR-202-3p/HK2
            axis
  JOURNAL   Oncol Rep 49 (5) (2023)
   PUBMED   36960858
  REMARK    GeneRIF: High-risk pathological subtype associated FAM83A-AS1
            promotes malignancy and glycolysis of lung adenocarcinoma via
            miR-202-3p/HK2 axis.
REFERENCE   6  (bases 1 to 5626)
  AUTHORS   Mathupala SP, Rempel A and Pedersen PL.
  TITLE     Glucose catabolism in cancer cells. Isolation, sequence, and
            activity of the promoter for type II hexokinase
  JOURNAL   J Biol Chem 270 (28), 16918-16925 (1995)
   PUBMED   7622509
REFERENCE   7  (bases 1 to 5626)
  AUTHORS   Echwald SM, Bjorbaek C, Hansen T, Clausen JO, Vestergaard H, Zierath
            JR, Printz RL, Granner DK and Pedersen O.
  TITLE     Identification of four amino acid substitutions in hexokinase II and
            studies of relationships to NIDDM, glucose effectiveness, and
            insulin sensitivity
  JOURNAL   Diabetes 44 (3), 347-353 (1995)
   PUBMED   7883123
REFERENCE   8  (bases 1 to 5626)
  AUTHORS   Vidal-Puig A, Printz RL, Stratton IM, Granner DK and Moller DE.
  TITLE     Analysis of the hexokinase II gene in subjects with insulin
            resistance and NIDDM and detection of a Gln142-->His substitution
  JOURNAL   Diabetes 44 (3), 340-346 (1995)
   PUBMED   7883122
REFERENCE   9  (bases 1 to 5626)
  AUTHORS   Laakso M, Malkki M and Deeb SS.
  TITLE     Amino acid substitutions in hexokinase II among patients with NIDDM
  JOURNAL   Diabetes 44 (3), 330-334 (1995)
   PUBMED   7883120
REFERENCE   10  (bases 1 to 5626)
  AUTHORS   Shinohara Y, Yamamoto K, Kogure K, Ichihara J and Terada H.
  TITLE     Steady state transcript levels of the type II hexokinase and type 1
            glucose transporter in human tumor cell lines
  JOURNAL   Cancer Lett 82 (1), 27-32 (1994)
   PUBMED   7518342
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC064369.1, SRR11853565.16550.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000290573.7/ ENSP00000290573.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC019069.8 and AC104135.5.
            On Jul 17, 2019 this sequence version replaced NM_000189.4.
            Summary: Hexokinases phosphorylate glucose to produce
            glucose-6-phosphate, the first step in most glucose metabolism
            pathways. This gene encodes hexokinase 2, the predominant form
            found in skeletal muscle. It localizes to the outer membrane of
            mitochondria. Expression of this gene is insulin-responsive, and
            studies in rat suggest that it is involved in the increased rate of
            glycolysis seen in rapidly growing cancer cells. [provided by
            RefSeq, Apr 2009].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..5626
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p12"
     gene            1..5626
                     /gene="HK2"
                     /gene_synonym="HKII; HXK2"
                     /note="hexokinase 2"
                     /db_xref="GeneID:3099"
                     /db_xref="HGNC:HGNC:4923"
                     /db_xref="MIM:601125"
     misc_feature    311..313
                     /gene="HK2"
                     /gene_synonym="HKII; HXK2"
                     /note="upstream in-frame stop codon"
     CDS             455..3208
                     /gene="HK2"
                     /gene_synonym="HKII; HXK2"
                     /EC_number="2.7.1.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hexokinase-2, muscle; hexokinase type II; muscle form
                     hexokinase; hexokinase-B"
                     /codon_start=1
                     /product="hexokinase-2 isoform 1"
                     /protein_id="NP_000180.2"
                     /db_xref="CCDS:CCDS1956.1"
                     /db_xref="GeneID:3099"
                     /db_xref="HGNC:HGNC:4923"
                     /db_xref="MIM:601125"
                     /translation="MIASHLLAYFFTELNHDQVQKVDQYLYHMRLSDETLLEISKRFRK
                     EMEKGLGATTHPTAAVKMLPTFVRSTPDGTEHGEFLALDLGGTNFRVLWVKVTDNGLQK
                     VEMENQIYAIPEDIMRGSGTQLFDHIAECLANFMDKLQIKDKKLPLGFTFSFPCHQTKL
                     DESFLVSWTKGFKSSGVEGRDVVALIRKAIQRRGDFDIDIVAVVNDTVGTMMTCGYDDH
                     NCEIGLIVGTGSNACYMEEMRHIDMVEGDEGRMCINMEWGAFGDDGSLNDIRTEFDQEI
                     DMGSLNPGKQLFEKMISGMYMGELVRLILVKMAKEELLFGGKLSPELLNTGRFETKDIS
                     DIEGEKDGIRKAREVLMRLGLDPTQEDCVATHRICQIVSTRSASLCAATLAAVLQRIKE
                     NKGEERLRSTIGVDGSVYKKHPHFAKRLHKTVRRLVPGCDVRFLRSEDGSGKGAAMVTA
                     VAYRLADQHRARQKTLEHLQLSHDQLLEVKRRMKVEMERGLSKETHASAPVKMLPTYVC
                     ATPDGTEKGDFLALDLGGTNFRVLLVRVRNGKWGGVEMHNKIYAIPQEVMHGTGDELFD
                     HIVQCIADFLEYMGMKGVSLPLGFTFSFPCQQNSLDESILLKWTKGFKASGCEGEDVVT
                     LLKEAIHRREEFDLDVVAVVNDTVGTMMTCGFEDPHCEVGLIVGTGSNACYMEEMRNVE
                     LVEGEEGRMCVNMEWGAFGDNGCLDDFRTEFDVAVDELSLNPGKQRFEKMISGMYLGEI
                     VRNILIDFTKRGLLFRGRISERLKTRGIFETKFLSQIESDCLALLQVRAILQHLGLEST
                     CDDSIIVKEVCTVVARRAAQLCGAGMAAVVDRIRENRGLDALKVTVGVDGTLYKLHPHF
                     AKVMHETVKDLAPKCDVSFLQSEDGSGKGAALITAVACRIREAGQR"
     misc_feature    455..502
                     /gene="HK2"
                     /gene_synonym="HKII; HXK2"
                     /note="propagated from UniProtKB/Swiss-Prot (P52789.2);
                     Region: Mitochondrial-binding peptide (MBP).
                     /evidence=ECO:0000303|PubMed:29298880"
     misc_feature    455..457
                     /gene="HK2"
                     /gene_synonym="HKII; HXK2"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P52789.2); acetylation site"
     misc_feature    671..1075
                     /gene="HK2"
                     /gene_synonym="HKII; HXK2"
                     /note="propagated from UniProtKB/Swiss-Prot (P52789.2);
                     Region: Hexokinase small subdomain 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01084"
     misc_feature    1076..1795
                     /gene="HK2"
                     /gene_synonym="HKII; HXK2"
                     /note="propagated from UniProtKB/Swiss-Prot (P52789.2);
                     Region: Hexokinase large subdomain 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01084"
     misc_feature    2015..2419
                     /gene="HK2"
                     /gene_synonym="HKII; HXK2"
                     /note="propagated from UniProtKB/Swiss-Prot (P52789.2);
                     Region: Hexokinase small subdomain 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01084"
     misc_feature    2420..3139
                     /gene="HK2"
                     /gene_synonym="HKII; HXK2"
                     /note="propagated from UniProtKB/Swiss-Prot (P52789.2);
                     Region: Hexokinase large subdomain 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01084"
     regulatory      5385..5390
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HK2"
                     /gene_synonym="HKII; HXK2"
                     /note="hexamer: AATAAA"
     polyA_site      5414
                     /gene="HK2"
                     /gene_synonym="HKII; HXK2"
     regulatory      5595..5600
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HK2"
                     /gene_synonym="HKII; HXK2"
                     /note="hexamer: AATAAA"
     polyA_site      5626
                     /gene="HK2"
                     /gene_synonym="HKII; HXK2"
                     /note="major polyA site"
ORIGIN
        1 acattgttgc atgaaactcc ggcgcaggag tcccgggctg ccgctggcaa catcgtgtca
       61 cccagctaag aaaatccgcg ggcccgagcc acgcgcctgt gaatcggaga ggtcccactg
      121 cccgagtgga gccgggctga gattcttctc aagttgagcc tcagtgatcc tgtggccgaa
      181 gttagcgcct tgacgtggga caaccggaca cgtcgccagg agagaactga ggcgccttct
      241 agcagttgtg acgccaaaat cacgtctccg gagacccgcg ccctccgcca gccgggcgca
      301 ccctcgccgg tagccttctt tgtgcgccgt ccggactccc agctcccggc ccggcagccg
      361 agccccagca caaagcagtc ggaccgcgcc gcccgcctcc cctctcgcgt ctccgcctcg
      421 gtttcccaac tctgcgccgt cgggccgcgg caggatgatt gcctcgcatc tgcttgccta
      481 cttcttcacg gagctcaacc atgaccaagt gcagaaggtt gaccagtatc tctaccacat
      541 gcgcctctct gatgagaccc tcttggagat ctctaagcgg ttccgcaagg agatggagaa
      601 agggcttgga gccaccactc accctactgc agcagtgaag atgctgccca cctttgtgag
      661 gtccactcca gatgggacag aacacggaga gttcctggct ctggatcttg gagggaccaa
      721 cttccgtgtg ctttgggtga aagtaacgga caatgggctc cagaaggtgg agatggagaa
      781 tcagatctat gccatccctg aggacatcat gcgaggcagt ggcacccagc tgtttgacca
      841 cattgccgaa tgcctggcta acttcatgga taagctacaa atcaaagaca agaagctccc
      901 actgggtttt accttctcgt tcccctgcca ccagactaaa ctagacgaga gtttcctggt
      961 ctcatggacc aagggattca agtccagtgg agtggaaggc agagacgttg tggctctgat
     1021 ccggaaggcc atccagagga gaggggactt tgatatcgac attgtggctg tggtgaatga
     1081 cacagttggg accatgatga cctgtggtta tgatgaccac aactgtgaga ttggtctcat
     1141 tgtgggcacg ggcagcaacg cctgctacat ggaagagatg cgccacatcg acatggtgga
     1201 aggcgatgag gggcggatgt gtatcaatat ggagtggggg gccttcgggg acgatggctc
     1261 gctcaacgac attcgcactg agtttgacca ggagattgac atgggctcac tgaacccggg
     1321 aaagcaactg tttgagaaga tgatcagtgg gatgtacatg ggggagctgg tgaggcttat
     1381 cctggtgaag atggccaagg aggagctgct ctttgggggg aagctcagcc cagagcttct
     1441 caacaccggt cgctttgaga ccaaagacat ctcagacatt gaaggggaga aggatggcat
     1501 ccggaaggcc cgtgaggtcc tgatgcggtt gggcctggac ccgactcagg aggactgcgt
     1561 ggccactcac cggatctgcc agatcgtgtc cacacgctcc gccagcctgt gcgcagccac
     1621 cctggccgcc gtgctgcagc gcatcaagga gaacaaaggc gaggagcggc tgcgctctac
     1681 tattggggtc gacggttccg tctacaagaa acacccccat tttgccaagc gtctacataa
     1741 gaccgtgcgg cggctggtgc ccggctgcga tgtccgcttc ctccgctccg aggatggcag
     1801 tggcaaaggt gcagccatgg tgacagcagt ggcttaccgg ctggccgatc aacaccgtgc
     1861 ccgccagaag acattagagc atctgcagct gagccatgac cagctgctgg aggtcaagag
     1921 gaggatgaag gtagaaatgg agcgaggtct gagcaaggag actcatgcca gtgcccccgt
     1981 caagatgctg cccacctacg tgtgtgctac cccggacggc acagagaaag gggacttctt
     2041 ggccttggac cttggaggaa caaatttccg ggtcctgctg gtccgtgttc ggaatgggaa
     2101 gtggggtgga gtggagatgc acaacaagat ctacgccatc ccgcaggagg tcatgcacgg
     2161 caccggggac gagctctttg accacattgt ccagtgcatc gcggacttcc tcgagtacat
     2221 gggcatgaag ggcgtgtccc tgcctctggg ttttaccttc tccttcccct gccagcagaa
     2281 cagcctggac gagagcatcc tcctcaagtg gacaaaaggc ttcaaggcat ctggctgcga
     2341 gggcgaggac gtggtgaccc tgctgaagga agcgatccac cggcgagagg agtttgacct
     2401 ggatgtggtt gctgtggtga acgacacagt cggaactatg atgacctgtg gctttgaaga
     2461 ccctcactgt gaagttggcc tcattgttgg cacgggcagc aatgcctgct acatggagga
     2521 gatgcgcaac gtggaactgg tggaaggaga agaggggcgg atgtgtgtga acatggaatg
     2581 gggggccttc ggggacaatg gatgcctaga tgacttccgc acagaatttg atgtggctgt
     2641 ggatgagctt tcactcaacc ccggcaagca gaggttcgag aaaatgatca gtggaatgta
     2701 cctgggtgag attgtccgta acattctcat cgatttcacc aagcgtggac tactcttccg
     2761 aggccgcatc tcagagcggc tcaagacaag gggcatcttt gaaaccaagt tcttgtctca
     2821 gattgagagt gactgcctgg ccctgctgca agtccgagcc atcctgcaac acttagggct
     2881 tgagagcacc tgtgacgaca gcatcattgt taaggaggtg tgcactgtgg tggcccggcg
     2941 ggcagcccag ctctgtggcg caggcatggc cgctgtggtg gacaggatac gagaaaaccg
     3001 tgggctggac gctctcaaag tgacagtggg tgtggatggg accctctaca agctacatcc
     3061 tcactttgcc aaagtcatgc atgagacagt gaaggacctg gctccgaaat gtgatgtgtc
     3121 tttcctgcag tcagaggatg gcagcgggaa gggggcggcg ctcatcactg ctgtggcctg
     3181 ccgcatccgt gaggctggac agcgatagaa cccctgaaat cggaagggac ttcctctttc
     3241 tctccttctt ccctgtttta aattataaga tgtcatcccc ttgtgtcaga gacagacccc
     3301 ttggcttttg cttggcagag aggaccccac tggactgggt tttgtctctg catctcattg
     3361 tagagcttgg tggctgagct tggccctatt aagataaata gagttccaaa taaggatttg
     3421 ttcacatgca tcataaccat tcccattggt tctcctaaaa catgaaaatt atctccctta
     3481 gtaatccccc ttgccaaatt ccatgtccct gtataattct acaggatggg gacactaatg
     3541 aagatacggt tgcttcacct tggagcctga acatgacatt tctaagtggg gtgcatcccc
     3601 cagcactgat gttgttactg attctcctgt cagagatctg ggaggtctcc actgaggatg
     3661 tgagcctgat tatcctatag gcagacgtgg ggagggtgga ggggtgacag tggaggaaaa
     3721 tccatggata tccacgcagc agcccctctt taacctcatc tacaagcatt tgccctgtgg
     3781 attccagcat ttgccattcc tggaatcaag gaatcctgag tctgggcaat gaaaccaaag
     3841 ccaggagttg acgcatcctg cagttgggcc agctgtcgca tctcagcggg gcgcacatgt
     3901 tatccacaag caatggacct ttggggaagg gggagttttt agtttgtttt acaaattttt
     3961 cctgcaaaag tggaatcact gtattttcat tttaatttat atttgaaatt ttatttagtt
     4021 cttgagtaga tctgcttctt catcttgaca tgtaatgaat ggtcagttgt acgtaatgta
     4081 tttatatgtt aatttgttat gtatatagat gtgcaagtct tgtcagaatt ggcctcagtg
     4141 tagttaaagg gcagaagggg aagatactga ctagtcatag aaatacctca ttcgcctgtg
     4201 ggaagagaag ggaagcctct tcagggtgag tgaatggcaa agcggttgct tctggctcct
     4261 ccttcccctg tggtcttgga agtgtgtgga aggcagggac agagatggag gccgagccaa
     4321 tagactgaag agaccacagc aattggctcc tccatctaga gattttcttg gcagtattcc
     4381 atgggatgtt aagcaaagga aaccaaagga atcgtttcaa atggactcat ggcttagaaa
     4441 tctttattct tagggcagtc agtagtattc taaagctttc tgacaagata aaggaagtca
     4501 ccaaaatttc tttttttaaa ttgtatctaa tcctcaacaa caaaccaaaa cagaacaatt
     4561 aaacagccaa ataaaacctc agggacaaca tttttggtgt atttgagccc tcccagcaag
     4621 tttcaccttg ggtttgtatt ttaaatgttt tacaagaatt gtccatgtgc ttccctaggc
     4681 tgagctggca ttggtctgct gacctgtttt tgtgtttttc ttttttttat acacaacatt
     4741 tatttcaaac tattgggagg gatgagagtg gcttaaaaac ttccatccct acttttcaag
     4801 agtgcagttg attctgaatc tgaaagcccg cctctgtcct aaaatacaaa caagcacaga
     4861 cattaaacct ggatactata tgataaagag ggatgtaact attgaattgg atacaaggat
     4921 cagaatggaa agaaactcac gatgaaattg aacctggttt ttgtatattt atcaaacttg
     4981 tgctgagaat agtgtctgat tatacgactt ttaagcaaag ttgggtgtaa ttaggtgaaa
     5041 acagcccagg tcctcccggg agcacagagg ggctaggggc tggtccttct cgtttgctct
     5101 agtcttgctt tgctgtctgg tgtagctcct ctgctgctcc catctgcact aattgaccca
     5161 aaacgtgggt atttcctgct acacaaaagc caaaaggttt catgtagatt ttagttcact
     5221 aaagggtgcc cacaaaatag agattaattt taacttaaat tttaagcttg aagattaggt
     5281 actatctgtg aagttacact tttttttttt tttttaaagg tagagatgtg tgtgtgtgta
     5341 ggtattaaag atgtgttgtt ggtttccaaa aaggaacact ggaaaataaa ttttgaatgt
     5401 ttatgttctc agaatcaggt tgacagtccc ttgctgacat ggctttgctt tgtgtaaata
     5461 cagtggatct caatcttcgg ggtgtgatga atagcgaatc atctcaaatc cttgagcact
     5521 cagtctagtg aagatgttgt cattatgtac aatacataac tagtttaatt aactatgtga
     5581 tgttaactat tattaataaa ttttaacatt ttccaaaata atcaaa
//
LOCUS       NM_000190               1505 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens hydroxymethylbilane synthase (HMBS), transcript variant
            1, mRNA.
ACCESSION   NM_000190
VERSION     NM_000190.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1505)
  AUTHORS   Hu Y, Li W, Kang N, Ma L, Teng Q, Mo G, Wu J, Wang X, Bi R and Zhang
            S.
  TITLE     Identification and molecular analysis of 17 novel variants of
            hydroxymethylbilane synthase in Chinese patients with acute
            intermittent porphyria
  JOURNAL   Clin Genet 101 (1), 116-121 (2022)
   PUBMED   34523126
  REMARK    GeneRIF: Identification and molecular analysis of 17 novel variants
            of hydroxymethylbilane synthase in Chinese patients with acute
            intermittent porphyria.
REFERENCE   2  (bases 1 to 1505)
  AUTHORS   Zhang Y, Xiao H, Xiong Q, Wu C and Li P.
  TITLE     Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose
            to Acute Intermittent Porphyria
  JOURNAL   Int J Mol Sci 22 (20), 11008 (2021)
   PUBMED   34681668
  REMARK    GeneRIF: Two Novel Hydroxymethylbilane Synthase Splicing Mutations
            Predispose to Acute Intermittent Porphyria. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1505)
  AUTHORS   Stutterd CA, Kidd A, Florkowski C, Janus E, Fanjul M, Raizis A, Wu
            TY, Archer J, Leventer RJ, Amor DJ, Lukic V, Bahlo M, Gow P,
            Lockhart PJ, van der Knaap MS and Delatycki MB.
  TITLE     Expanding the clinical and radiological phenotypes of
            leukoencephalopathy due to biallelic HMBS mutations
  JOURNAL   Am J Med Genet A 185 (10), 2941-2950 (2021)
   PUBMED   34089223
  REMARK    GeneRIF: Expanding the clinical and radiological phenotypes of
            leukoencephalopathy due to biallelic HMBS mutations.
REFERENCE   4  (bases 1 to 1505)
  AUTHORS   Jerico D, Luis EO, Cusso L, Fernandez-Seara MA, Morales X, Cordoba
            KM, Benito M, Sampedro A, Larriva M, Ramirez MJ, de Salamanca RE,
            Ortiz-de-Solorzano C, Alegre M, Prieto J, Lanciego JL, D'Avola D,
            Gonzalez-Aseguinolaza G, Pastor MA, Desco M and Fontanellas A.
  TITLE     Brain ventricular enlargement in human and murine acute intermittent
            porphyria
  JOURNAL   Hum Mol Genet 29 (19), 3211-3223 (2020)
   PUBMED   32916704
  REMARK    GeneRIF: Brain ventricular enlargement in human and murine acute
            intermittent porphyria.
REFERENCE   5  (bases 1 to 1505)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 1505)
  AUTHORS   Whatley,S.D. and Badminton,M.N.
  TITLE     Acute Intermittent Porphyria
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301372
REFERENCE   7  (bases 1 to 1505)
  AUTHORS   Gu XF, de Rooij F, Voortman G, Te Velde K, Nordmann Y and Grandchamp
            B.
  TITLE     High frequency of mutations in exon 10 of the porphobilinogen
            deaminase gene in patients with a CRIM-positive subtype of acute
            intermittent porphyria
  JOURNAL   Am J Hum Genet 51 (3), 660-665 (1992)
   PUBMED   1496994
REFERENCE   8  (bases 1 to 1505)
  AUTHORS   Mgone CS, Lanyon WG, Moore MR and Connor JM.
  TITLE     Detection of seven point mutations in the porphobilinogen deaminase
            gene in patients with acute intermittent porphyria, by direct
            sequencing of in vitro amplified cDNA
  JOURNAL   Hum Genet 90 (1-2), 12-16 (1992)
   PUBMED   1427766
REFERENCE   9  (bases 1 to 1505)
  AUTHORS   Kauppinen R, Peltonen L, Pihlaja H and Mustajoki P.
  TITLE     CRIM-positive mutations of acute intermittent porphyria in Finland
  JOURNAL   Hum Mutat 1 (5), 392-396 (1992)
   PUBMED   1301948
REFERENCE   10  (bases 1 to 1505)
  AUTHORS   Delfau MH, Picat C, De Rooij F, Voortman G, Deybach JC, Nordmann Y
            and Grandchamp B.
  TITLE     Molecular heterogeneity of acute intermittent porphyria:
            identification of four additional mutations resulting in the
            CRIM-negative subtype of the disease
  JOURNAL   Am J Hum Genet 49 (2), 421-428 (1991)
   PUBMED   1714233
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK290275.1, SRR1163655.660423.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000652429.1/ ENSP00000498786.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB128006.1, BC019323.1 and
            AW139390.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 13, 2018 this sequence version replaced NM_000190.3.
            Summary: This gene encodes a member of the hydroxymethylbilane
            synthase superfamily. The encoded protein is the third enzyme of
            the heme biosynthetic pathway and catalyzes the head to tail
            condensation of four porphobilinogen molecules into the linear
            hydroxymethylbilane. Mutations in this gene are associated with the
            autosomal dominant disease acute intermittent porphyria.
            Alternatively spliced transcript variants encoding different
            isoforms have been described. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1505
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..1505
                     /gene="HMBS"
                     /gene_synonym="PBG-D; PBGD; PORC; UPS"
                     /note="hydroxymethylbilane synthase"
                     /db_xref="GeneID:3145"
                     /db_xref="HGNC:HGNC:4982"
                     /db_xref="MIM:609806"
     misc_feature    115..117
                     /gene="HMBS"
                     /gene_synonym="PBG-D; PBGD; PORC; UPS"
                     /note="upstream in-frame stop codon"
     CDS             154..1239
                     /gene="HMBS"
                     /gene_synonym="PBG-D; PBGD; PORC; UPS"
                     /EC_number="2.5.1.61"
                     /note="isoform 1 is encoded by transcript variant 1;
                     porphyria, acute; Chester type; pre-uroporphyrinogen
                     synthase; uroporphyrinogen I synthase; uroporphyrinogen I
                     synthetase; porphobilinogen deaminase"
                     /codon_start=1
                     /product="porphobilinogen deaminase isoform 1"
                     /protein_id="NP_000181.2"
                     /db_xref="CCDS:CCDS8409.1"
                     /db_xref="GeneID:3145"
                     /db_xref="HGNC:HGNC:4982"
                     /db_xref="MIM:609806"
                     /translation="MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKAS
                     YPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLKDLPTVL
                     PPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEF
                     RSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGV
                     EVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGG
                     VWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLAN
                     LLLSKGAKNILDVARQLNDAH"
     misc_feature    157..159
                     /gene="HMBS"
                     /gene_synonym="PBG-D; PBGD; PORC; UPS"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (P08397.2);
                     acetylation site"
     misc_feature    196..198
                     /gene="HMBS"
                     /gene_synonym="PBG-D; PBGD; PORC; UPS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P08397.2); phosphorylation site"
     misc_feature    358..360
                     /gene="HMBS"
                     /gene_synonym="PBG-D; PBGD; PORC; UPS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P08397.2); phosphorylation site"
     misc_feature    373..375
                     /gene="HMBS"
                     /gene_synonym="PBG-D; PBGD; PORC; UPS"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P22907; propagated from
                     UniProtKB/Swiss-Prot (P08397.2); acetylation site"
     misc_feature    592..594
                     /gene="HMBS"
                     /gene_synonym="PBG-D; PBGD; PORC; UPS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P08397.2); phosphorylation site"
     regulatory      1484..1489
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMBS"
                     /gene_synonym="PBG-D; PBGD; PORC; UPS"
                     /note="hexamer: AATAAA"
     polyA_site      1504
                     /gene="HMBS"
                     /gene_synonym="PBG-D; PBGD; PORC; UPS"
                     /note="major polyA site"
ORIGIN
        1 aagtgacgcg aggctctgcg gagaccagga gtcagactgt aggacgacct cgggtcccac
       61 gtgtccccgg tactcgccgg ccggagcccc cggcttcccg gggccggggg accttagcgg
      121 cacccacaca cagcctactt tccaagcgga gccatgtctg gtaacggcaa tgcggctgca
      181 acggcggaag aaaacagccc aaagatgaga gtgattcgcg tgggtacccg caagagccag
      241 cttgctcgca tacagacgga cagtgtggtg gcaacattga aagcctcgta ccctggcctg
      301 cagtttgaaa tcattgctat gtccaccaca ggggacaaga ttcttgatac tgcactctct
      361 aagattggag agaaaagcct gtttaccaag gagcttgaac atgccctgga gaagaatgaa
      421 gtggacctgg ttgttcactc cttgaaggac ctgcccactg tgcttcctcc tggcttcacc
      481 atcggagcca tctgcaagcg ggaaaaccct catgatgctg ttgtctttca cccaaaattt
      541 gttgggaaga ccctagaaac cctgccagag aagagtgtgg tgggaaccag ctccctgcga
      601 agagcagccc agctgcagag aaagttcccg catctggagt tcaggagtat tcggggaaac
      661 ctcaacaccc ggcttcggaa gctggacgag cagcaggagt tcagtgccat catcctggca
      721 acagctggcc tgcagcgcat gggctggcac aaccgggtgg ggcagatcct gcaccctgag
      781 gaatgcatgt atgctgtggg ccagggggcc ttgggcgtgg aagtgcgagc caaggaccag
      841 gacatcttgg atctggtggg tgtgctgcac gatcccgaga ctctgcttcg ctgcatcgct
      901 gaaagggcct tcctgaggca cctggaagga ggctgcagtg tgccagtagc cgtgcataca
      961 gctatgaagg atgggcaact gtacctgact ggaggagtct ggagtctaga cggctcagat
     1021 agcatacaag agaccatgca ggctaccatc catgtccctg cccagcatga agatggccct
     1081 gaggatgacc cacagttggt aggcatcact gctcgtaaca ttccacgagg gccccagttg
     1141 gctgcccaga acttgggcat cagcctggcc aacttgttgc tgagcaaagg agccaaaaac
     1201 atcctggatg ttgcacggca gcttaacgat gcccattaac tggtttgtgg ggcacagatg
     1261 cctgggttgc tgctgtccag tgcctacatc ccgggcctca gtgccccatt ctcactgcta
     1321 tctggggagt gattaccccg ggagactgaa ctgcagggtt caagccttcc agggatttgc
     1381 ctcaccttgg ggccttgatg actgccttgc ctcctcagta tgtgggggct tcatctcttt
     1441 agagaagtcc aagcaacagc ctttgaatgt aaccaatcct actaataaac cagttctgaa
     1501 ggtgt
//
LOCUS       NM_000191               1570 bp    mRNA    linear   PRI 27-JUL-2023
DEFINITION  Homo sapiens 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000191
VERSION     NM_000191.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1570)
  AUTHORS   Cui X, Yun X, Sun M, Li R, Lyu X, Lao Y, Qin X and Yu W.
  TITLE     HMGCL-induced beta-hydroxybutyrate production attenuates
            hepatocellular carcinoma via DPP4-mediated ferroptosis
            susceptibility
  JOURNAL   Hepatol Int 17 (2), 377-392 (2023)
   PUBMED   36508088
  REMARK    GeneRIF: HMGCL-induced beta-hydroxybutyrate production attenuates
            hepatocellular carcinoma via DPP4-mediated ferroptosis
            susceptibility. Erratum:[Hepatol Int. 2023 Jan 13;:. PMID: 36635611]
REFERENCE   2  (bases 1 to 1570)
  AUTHORS   Luo W, Qin L, Li B, Liao Z, Liang J, Xiao X, Xiao X, Mo Y, Huang G,
            Zhang Z, Zhou X and Li P.
  TITLE     Inactivation of HMGCL promotes proliferation and metastasis of
            nasopharyngeal carcinoma by suppressing oxidative stress
  JOURNAL   Sci Rep 7 (1), 11954 (2017)
   PUBMED   28931870
  REMARK    GeneRIF: The expression of HMGCL was silenced in nasopharyngeal
            carcinoma tissue. Downregulation of HMGCL in nasopharyngeal
            carcinoma was associated with low intracellular beta-hydroxybutyrate
            (beta-HB) production, thereby reducing reactive oxygen species (ROS)
            generation. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1570)
  AUTHORS   Zhao L, Fan J, Xia S, Pan Y, Liu S, Qian G, Qian Z, Kang HB, Arbiser
            JL, Pollack BP, Kudchadkar RR, Lawson DH, Rossi M, Abdel-Wahab O,
            Merghoub T, Khoury HJ, Khuri FR, Boise LH, Lonial S, Chen F, Chen J
            and Lin R.
  TITLE     HMG-CoA synthase 1 is a synthetic lethal partner of BRAFV600E in
            human cancers
  JOURNAL   J Biol Chem 292 (24), 10142-10152 (2017)
   PUBMED   28468827
  REMARK    GeneRIF: Data suggest that HMGCS1 (HMG-CoA synthase 1) signals
            through ketogenesis/acetoacetate to promote cell proliferation and
            BRAF(V600E)-dependent MEK1 activation in BRAF(V600E)-positive
            melanoma and colon cancer cells; HMGCS1 co-localizes with HMGCL
            (HMG-CoA lyase) and BRAF(V600E) in cytosol of melanoma and colon
            cancer cells. (BRAF = proto-oncogene protein B-raf)
REFERENCE   4  (bases 1 to 1570)
  AUTHORS   Koksal T, Gunduz M, Ozaydin E and Azak E.
  TITLE     3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular
            Noncompaction with a Novel Mutation
  JOURNAL   Indian J Pediatr 82 (7), 645-648 (2015)
   PUBMED   25708061
  REMARK    GeneRIF: The genetic analysis revealed a novel homozygote deletion
            in exon 3 and 4 in HMGCL gene. HMG-CoA lyase deficiency should be
            thought in the patients with hypoketotic hypoglycemia,
            hyperammonemia, elevated liver function tests, noncompaction left
            ventricle and characteristic white matter changes and in the
            differential diagnosis of macrocephaly.
REFERENCE   5  (bases 1 to 1570)
  AUTHORS   Aoyama Y, Yamamoto T, Sakaguchi N, Ishige M, Tanaka T, Ichihara T,
            Ohara K, Kouzan H, Kinosada Y and Fukao T.
  TITLE     Application of multiplex ligation-dependent probe amplification, and
            identification of a heterozygous Alu-associated deletion and a
            uniparental disomy of chromosome 1 in two patients with
            3-hydroxy-3-methylglutaryl-CoA lyase deficiency
  JOURNAL   Int J Mol Med 35 (6), 1554-1560 (2015)
   PUBMED   25872961
  REMARK    GeneRIF: this is the first study describing HMGCL deficiency caused
            by uniparental disomy.
REFERENCE   6  (bases 1 to 1570)
  AUTHORS   Ashmarina LI, Rusnak N, Miziorko HM and Mitchell GA.
  TITLE     3-Hydroxy-3-methylglutaryl-CoA lyase is present in mouse and human
            liver peroxisomes
  JOURNAL   J Biol Chem 269 (50), 31929-31932 (1994)
   PUBMED   7527399
REFERENCE   7  (bases 1 to 1570)
  AUTHORS   Roberts JR, Narasimhan C, Hruz PW, Mitchell GA and Miziorko HM.
  TITLE     3-Hydroxy-3-methylglutaryl-CoA lyase: expression and isolation of
            the recombinant human enzyme and investigation of a mechanism for
            regulation of enzyme activity
  JOURNAL   J Biol Chem 269 (27), 17841-17846 (1994)
   PUBMED   8027038
REFERENCE   8  (bases 1 to 1570)
  AUTHORS   Mitchell GA, Robert MF, Hruz PW, Wang S, Fontaine G, Behnke CE,
            Mende-Mueller LM, Schappert K, Lee C, Gibson KM, Miziorko HM et al.
  TITLE     3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human
            and chicken liver HL cDNAs and characterization of a mutation
            causing human HL deficiency
  JOURNAL   J Biol Chem 268 (6), 4376-4381 (1993)
   PUBMED   8440722
REFERENCE   9  (bases 1 to 1570)
  AUTHORS   Wang S, Nadeau JH, Duncan A, Robert MF, Fontaine G, Schappert K,
            Johnson KR, Zietkiewicz E, Hruz P, Miziorko H et al.
  TITLE     3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and
            characterization of a mouse liver HL cDNA and subchromosomal mapping
            of the human and mouse HL genes
  JOURNAL   Mamm Genome 4 (7), 382-387 (1993)
   PUBMED   8102917
REFERENCE   10  (bases 1 to 1570)
  AUTHORS   Barash V, Mandel H, Sella S and Geiger R.
  TITLE     3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: biochemical
            studies and family investigation of four generations
  JOURNAL   J Inherit Metab Dis 13 (2), 156-164 (1990)
   PUBMED   2116546
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.750542.1,
            SRR5189652.81976.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000374490.8/ ENSP00000363614.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590728.26, AL031295.1 and
            AI202943.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000191.2.
            Summary: The protein encoded by this gene belongs to the HMG-CoA
            lyase family. It is a mitochondrial enzyme that catalyzes the final
            step of leucine degradation and plays a key role in ketone body
            formation. Mutations in this gene are associated with HMG-CoA lyase
            deficiency. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2009].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1570
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..1570
                     /gene="HMGCL"
                     /gene_synonym="HL; HMGCL1"
                     /note="3-hydroxy-3-methylglutaryl-CoA lyase"
                     /db_xref="GeneID:3155"
                     /db_xref="HGNC:HGNC:5005"
                     /db_xref="MIM:613898"
     CDS             15..992
                     /gene="HMGCL"
                     /gene_synonym="HL; HMGCL1"
                     /EC_number="4.1.3.4"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; hydroxymethylglutaricaciduria; hydroxymethylglutaryl-CoA
                     lyase, mitochondrial; HMG-CoA lyase;
                     3-hydroxy-3-methylglutarate-CoA lyase; mitochondrial
                     3-hydroxy-3-methylglutaryl-CoA lyase;
                     3-hydroxymethyl-3-methylglutaryl-CoA lyase;
                     3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"
                     /codon_start=1
                     /product="hydroxymethylglutaryl-CoA lyase, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_000182.2"
                     /db_xref="CCDS:CCDS243.1"
                     /db_xref="GeneID:3155"
                     /db_xref="HGNC:HGNC:5005"
                     /db_xref="MIM:613898"
                     /translation="MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPRDGLQ
                     NEKNIVSTPVKIKLIDMLSEAGLSVIETTSFVSPKWVPQMGDHTEVLKGIQKFPGINYP
                     VLTPNLKGFEAAVAAGAKEVVIFGAASELFTKKNINCSIEESFQRFDAILKAAQSANIS
                     VRGYVSCALGCPYEGKISPAKVAEVTKKFYSMGCYEISLGDTIGVGTPGIMKDMLSAVM
                     QEVPLAALAVHCHDTYGQALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDL
                     VYMLEGLGIHTGVNLQKLLEAGNFICQALNRKTSSKVAQATCKL"
     transit_peptide 15..95
                     /gene="HMGCL"
                     /gene_synonym="HL; HMGCL1"
     mat_peptide     96..989
                     /gene="HMGCL"
                     /gene_synonym="HL; HMGCL1"
                     /product="hydroxymethylglutaryl-CoA lyase, mitochondrial
                     isoform 1"
     misc_feature    156..158
                     /gene="HMGCL"
                     /gene_synonym="HL; HMGCL1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P35914.2); acetylation site"
     misc_feature    345..347
                     /gene="HMGCL"
                     /gene_synonym="HL; HMGCL1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P38060; propagated from
                     UniProtKB/Swiss-Prot (P35914.2); acetylation site"
     misc_feature    423..425
                     /gene="HMGCL"
                     /gene_synonym="HL; HMGCL1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P38060; propagated from
                     UniProtKB/Swiss-Prot (P35914.2); acetylation site"
     misc_feature    549..551
                     /gene="HMGCL"
                     /gene_synonym="HL; HMGCL1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P38060; propagated from
                     UniProtKB/Swiss-Prot (P35914.2); acetylation site"
     misc_feature    981..989
                     /gene="HMGCL"
                     /gene_synonym="HL; HMGCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35914.2);
                     Region: Microbody targeting signal. /evidence=ECO:0000255"
     misc_feature    984..986
                     /gene="HMGCL"
                     /gene_synonym="HL; HMGCL1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P38060; propagated from
                     UniProtKB/Swiss-Prot (P35914.2); acetylation site"
     regulatory      1545..1550
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMGCL"
                     /gene_synonym="HL; HMGCL1"
                     /note="hexamer: ATTAAA"
     polyA_site      1570
                     /gene="HMGCL"
                     /gene_synonym="HL; HMGCL1"
                     /note="major polyA site"
ORIGIN
        1 gattctgggc caagatggca gcaatgagga aggcgcttcc gcggcgactg gtgggcttgg
       61 cgtccctccg ggctgtcagc acctcatcta tgggcacttt accaaagcgg gtgaaaattg
      121 tggaagttgg tccccgagat ggactacaaa atgaaaagaa tatcgtatct actccagtga
      181 aaatcaagct gatagacatg ctttctgaag caggactctc tgttatagaa accaccagct
      241 ttgtgtctcc taagtgggtt ccccagatgg gtgaccacac tgaagtcttg aagggcattc
      301 agaagtttcc tggcatcaac tacccagtcc tgaccccaaa tttgaaaggc ttcgaggcag
      361 cggttgctgc tggagccaag gaagtagtca tctttggagc tgcctcagag ctcttcacca
      421 agaagaacat caattgttcc atagaggaga gttttcagag gtttgacgca atcctgaagg
      481 cagcgcagtc agccaatatt tctgtgcggg ggtacgtctc ctgtgctctt ggctgccctt
      541 atgaagggaa gatctcccca gctaaagtag ctgaggtcac caagaagttc tactcaatgg
      601 gctgctacga gatctccctg ggggacacca ttggtgtggg caccccaggg atcatgaaag
      661 acatgctatc tgctgtcatg caggaagtgc ctctggctgc cctggctgtc cactgccatg
      721 acacctatgg tcaagccctg gccaacacct tgatggccct gcagatggga gtgagtgtcg
      781 tggactcttc tgtggcagga cttggaggct gtccctacgc acagggggca tcaggaaact
      841 tggccacaga agacctggtc tacatgctag agggcttggg cattcacacg ggtgtgaatc
      901 tccagaagct tctggaagct ggaaacttta tctgtcaagc cctgaacaga aaaactagct
      961 ccaaagtggc tcaggctacc tgtaaactct gagccccttg cccacctgaa gccctgggga
     1021 tgatgtggaa ataggggcac acacagatga ttcatggatg gggacatgga aatgagaata
     1081 ggttaaatgg tgcaggtacc tcatagccag ctctacacag aggtctctcc tggcagaaag
     1141 caggcgaagg gcaggaggag ctgcttggca gaaggacctc ctgcccagac ctgaggagtg
     1201 agaggctttg agggctgaag tctccctttg ttacggaccc tggcccagga gttgaatgcc
     1261 tgaggacgtg tgggaacccc gttccctact tagcatgatc cttgagtctc ctctctggat
     1321 ggaatccgcg agctggccac ctggccaccc tctacacggc tccaccctgc catggccgtg
     1381 gggcccttgc tctctgactt ctcaggacac aggtcatgga ggttcttccc aagctggcag
     1441 aggccatttg tggaaagtgg agagctacgt ggtggccgtc tgccaactcc agcatctctg
     1501 gaaaatctcc acgctgaatg tgatttttga aaacagctta tgtaattaaa ggttgaatgg
     1561 cacatcataa
//
LOCUS       NM_000193               4650 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens sonic hedgehog signaling molecule (SHH), transcript
            variant 1, mRNA.
ACCESSION   NM_000193
VERSION     NM_000193.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4650)
  AUTHORS   Wang X, Tan S, Yang S, Liu X, Lei J and Li H.
  TITLE     Activation of Sonic Hedgehog Signaling Pathway Regulates Human
            Trabecular Meshwork Cell Function
  JOURNAL   J Ocul Pharmacol Ther 39 (7), 430-438 (2023)
   PUBMED   37307020
  REMARK    GeneRIF: Activation of Sonic Hedgehog Signaling Pathway Regulates
            Human Trabecular Meshwork Cell Function.
REFERENCE   2  (bases 1 to 4650)
  AUTHORS   de Araujo MA, Malafaia O, Ribas Filho JM, Fratini L, Roesler R and
            Isolan GR.
  TITLE     Low Expression of the NRP1 Gene Is Associated with Shorter Overall
            Survival in Patients with Sonic Hedgehog and Group 3 Medulloblastoma
  JOURNAL   Int J Mol Sci 24 (14), 11601 (2023)
   PUBMED   37511358
  REMARK    GeneRIF: Low Expression of the NRP1 Gene Is Associated with Shorter
            Overall Survival in Patients with Sonic Hedgehog and Group 3
            Medulloblastoma. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4650)
  AUTHORS   Moisejenko-Golubovica J, Groma V, Svirskis S and Ivanova A.
  TITLE     Serum Vitamin D Levels Explored in the Latvian Cohort of Patients
            with Basal Cell Carcinoma Linked to the Sonic Hedgehog and Vitamin D
            Binding Protein Cutaneous Tissue Indices
  JOURNAL   Nutrients 14 (16), 3359 (2022)
   PUBMED   36014865
  REMARK    GeneRIF: Serum Vitamin D Levels Explored in the Latvian Cohort of
            Patients with Basal Cell Carcinoma Linked to the Sonic Hedgehog and
            Vitamin D Binding Protein Cutaneous Tissue Indices. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 4650)
  AUTHORS   Quan X, Zhang Z, Qin Y, Gai X, Tian Q, Guo Y, Qian J and Yao J.
  TITLE     Expression of Shh, Gli1, and Cyr61 in Gastric Cancer Predicts
            Overall Survival of Patients: A Retrospective Study
  JOURNAL   Cancer Control 29, 10732748221134398 (2022)
   PUBMED   36346167
  REMARK    GeneRIF: Expression of Shh, Gli1, and Cyr61 in Gastric Cancer
            Predicts Overall Survival of Patients: A Retrospective Study.
REFERENCE   5  (bases 1 to 4650)
  AUTHORS   Pepinsky RB, Zeng C, Wen D, Rayhorn P, Baker DP, Williams KP, Bixler
            SA, Ambrose CM, Garber EA, Miatkowski K, Taylor FR, Wang EA and
            Galdes A.
  TITLE     Identification of a palmitic acid-modified form of human Sonic
            hedgehog
  JOURNAL   J Biol Chem 273 (22), 14037-14045 (1998)
   PUBMED   9593755
REFERENCE   6  (bases 1 to 4650)
  AUTHORS   Marigo V, Roberts DJ, Lee SM, Tsukurov O, Levi T, Gastier JM,
            Epstein DJ, Gilbert DJ, Copeland NG, Seidman CE et al.
  TITLE     Cloning, expression, and chromosomal location of SHH and IHH: two
            human homologues of the Drosophila segment polarity gene hedgehog
  JOURNAL   Genomics 28 (1), 44-51 (1995)
   PUBMED   7590746
REFERENCE   7  (bases 1 to 4650)
  AUTHORS   Chang DT, Lopez A, von Kessler DP, Chiang C, Simandl BK, Zhao R,
            Seldin MF, Fallon JF and Beachy PA.
  TITLE     Products, genetic linkage and limb patterning activity of a murine
            hedgehog gene
  JOURNAL   Development 120 (11), 3339-3353 (1994)
   PUBMED   7720571
REFERENCE   8  (bases 1 to 4650)
  AUTHORS   Tsukurov O, Boehmer A, Flynn J, Nicolai JP, Hamel BC, Traill S,
            Zaleske D, Mankin HJ, Yeon H, Ho C et al.
  TITLE     A complex bilateral polysyndactyly disease locus maps to chromosome
            7q36
  JOURNAL   Nat Genet 6 (3), 282-286 (1994)
   PUBMED   8012391
REFERENCE   9  (bases 1 to 4650)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301702
REFERENCE   10  (bases 1 to 4650)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301552
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.240896.1,
            SRR14038193.1138684.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMN03267752, SAMN03267759
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence (PMID:
            9593755)
            MANE Ensembl match :: ENST00000297261.7/ ENSP00000297261.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC078834.5, L38518.1,
            BX452210.1, BY797055.2 and BX109787.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000193.3.
            Summary: This gene encodes a protein that is instrumental in
            patterning the early embryo. It has been implicated as the key
            inductive signal in patterning of the ventral neural tube, the
            anterior-posterior limb axis, and the ventral somites. Of three
            human proteins showing sequence and functional similarity to the
            sonic hedgehog protein of Drosophila, this protein is the most
            similar. The protein is made as a precursor that is
            autocatalytically cleaved; the N-terminal portion is soluble and
            contains the signalling activity while the C-terminal portion is
            involved in precursor processing. More importantly, the C-terminal
            product covalently attaches a cholesterol moiety to the N-terminal
            product, restricting the N-terminal product to the cell surface and
            preventing it from freely diffusing throughout the developing
            embryo. Defects in this protein or in its signalling pathway are a
            cause of holoprosencephaly (HPE), a disorder in which the
            developing forebrain fails to correctly separate into right and
            left hemispheres. HPE is manifested by facial deformities. It is
            also thought that mutations in this gene or in its signalling
            pathway may be responsible for VACTERL syndrome, which is
            characterized by vertebral defects, anal atresia, tracheoesophageal
            fistula with esophageal atresia, radial and renal dysplasia,
            cardiac anomalies, and limb abnormalities. Additionally, mutations
            in a long range enhancer located approximately 1 megabase upstream
            of this gene disrupt limb patterning and can result in preaxial
            polydactyly. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4650
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.3"
     gene            1..4650
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="sonic hedgehog signaling molecule"
                     /db_xref="GeneID:6469"
                     /db_xref="HGNC:HGNC:10848"
                     /db_xref="MIM:600725"
     misc_feature    177..179
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="upstream in-frame stop codon"
     misc_feature    333..335
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MGE"
     CDS             342..1730
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; sonic hedgehog homolog; shh unprocessed
                     N-terminal signaling and C-terminal autoprocessing domains"
                     /codon_start=1
                     /product="sonic hedgehog protein isoform 1 preproprotein"
                     /protein_id="NP_000184.1"
                     /db_xref="CCDS:CCDS5942.1"
                     /db_xref="GeneID:6469"
                     /db_xref="HGNC:HGNC:10848"
                     /db_xref="MIM:600725"
                     /translation="MLLLARCLLLVLVSSLLVCSGLACGPGRGFGKRRHPKKLTPLAYK
                     QFIPNVAEKTLGASGRYEGKISRNSERFKELTPNYNPDIIFKDEENTGADRLMTQRCKD
                     KLNALAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRSKYGMLAR
                     LAVEAGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSATVHLEQGGTKLVKDLSPGD
                     RVLAADDQGRLLYSDFLTFLDRDDGAKKVFYVIETREPRERLLLTAAHLLFVAPHNDSA
                     TGEPEASSGSGPPSGGALGPRALFASRVRPGQRVYVVAERDGDRRLLPAAVHSVTLSEE
                     AAGAYAPLTAQGTILINRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGG
                     DSGGGDRGGGGGRVALTAPGAADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMA
                     VKSS"
     sig_peptide     342..410
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     411..1727
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /product="Sonic hedgehog protein. /id=PRO_0000013208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15465.1)"
     mat_peptide     411..932
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /product="Sonic hedgehog protein N-product.
                     /id=PRO_0000013209"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15465.1)"
     misc_feature    435..455
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15465.1);
                     Region: Cardin-Weintraub.
                     /evidence=ECO:0000269|PubMed:23118222"
     misc_feature    930..935
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="Cleavage, by autolysis.
                     /evidence=ECO:0000250|UniProtKB:Q02936; propagated from
                     UniProtKB/Swiss-Prot (Q15465.1); cleavage site"
     misc_feature    1068..1070
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="Involved in cholesterol transfer.
                     /evidence=ECO:0000250|UniProtKB:Q02936; propagated from
                     UniProtKB/Swiss-Prot (Q15465.1); other site"
     misc_feature    1140..1142
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="Involved in auto-cleavage.
                     /evidence=ECO:0000250|UniProtKB:Q02936; propagated from
                     UniProtKB/Swiss-Prot (Q15465.1); other site"
     misc_feature    1149..1151
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="Essential for auto-cleavage.
                     /evidence=ECO:0000250|UniProtKB:Q02936; propagated from
                     UniProtKB/Swiss-Prot (Q15465.1); other site"
     misc_feature    1173..1175
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (Q15465.1); glycosylation site"
     misc_feature    1176..1247
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15465.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1524..1583
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15465.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2023..2028
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="hexamer: AATAAT"
     polyA_site      2055
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="major polyA site"
     regulatory      2763..2768
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="hexamer: AATAAA"
     polyA_site      2806
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="major polyA site"
     polyA_site      2809
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="major polyA site"
     regulatory      4627..4632
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="hexamer: ATTAAA"
     polyA_site      4650
                     /gene="SHH"
                     /gene_synonym="HHG1; HLP3; HPE3; MCOPCB5; ShhNC; SMMCI;
                     TPT; TPTPS"
                     /note="major polyA site"
ORIGIN
        1 acaagctctc caggcttgct accatttaaa atcagactct ttttgtcttt tgattgctgt
       61 ctcgcgaccc aactccgatg tgttccgtta tcagcggccg gcagcctgcc attccagccc
      121 ctgtctgggt ggggagcggt ggagagtccc ccgcagccgc ggcgggcaag gttatatagg
      181 aagagaaaga gcgaggcagc cagcgaggga gagagcgagc gggcgagccg gagcgaggaa
      241 gggaaagcgc aagagagagc gcacacgcac acacccgccg cgcgcactcg cgcacggacc
      301 cgcacgggga cagctcggaa gtcatcagtt ccatgggcga gatgctgctg ctggcgagat
      361 gtctgctgct agtcctcgtc tcctcgctgc tggtatgctc gggactggcg tgcggaccgg
      421 gcagggggtt cgggaagagg aggcacccca aaaagctgac ccctttagcc tacaagcagt
      481 ttatccccaa tgtggccgag aagaccctag gcgccagcgg aaggtatgaa gggaagatct
      541 ccagaaactc cgagcgattt aaggaactca cccccaatta caaccccgac atcatattta
      601 aggatgaaga aaacaccgga gcggacaggc tgatgactca gaggtgtaag gacaagttga
      661 acgctttggc catctcggtg atgaaccagt ggccaggagt gaaactgcgg gtgaccgagg
      721 gctgggacga agatggccac cactcagagg agtctctgca ctacgagggc cgcgcagtgg
      781 acatcaccac gtctgaccgc gaccgcagca agtacggcat gctggcccgc ctggcggtgg
      841 aggccggctt cgactgggtg tactacgagt ccaaggcaca tatccactgc tcggtgaaag
      901 cagagaactc ggtggcggcc aaatcgggag gctgcttccc gggctcggcc acggtgcacc
      961 tggagcaggg cggcaccaag ctggtgaagg acctgagccc cggggaccgc gtgctggcgg
     1021 cggacgacca gggccggctg ctctacagcg acttcctcac tttcctggac cgcgacgacg
     1081 gcgccaagaa ggtcttctac gtgatcgaga cgcgggagcc gcgcgagcgc ctgctgctca
     1141 ccgccgcgca cctgctcttt gtggcgccgc acaacgactc ggccaccggg gagcccgagg
     1201 cgtcctcggg ctcggggccg ccttccgggg gcgcactggg gcctcgggcg ctgttcgcca
     1261 gccgcgtgcg cccgggccag cgcgtgtacg tggtggccga gcgtgacggg gaccgccggc
     1321 tcctgcccgc cgctgtgcac agcgtgaccc taagcgagga ggccgcgggc gcctacgcgc
     1381 cgctcacggc ccagggcacc attctcatca accgggtgct ggcctcgtgc tacgcggtca
     1441 tcgaggagca cagctgggcg caccgggcct tcgcgccctt ccgcctggcg cacgcgctcc
     1501 tggctgcact ggcgcccgcg cgcacggacc gcggcgggga cagcggcggc ggggaccgcg
     1561 ggggcggcgg cggcagagta gccctaaccg ctccaggtgc tgccgacgct ccgggtgcgg
     1621 gggccaccgc gggcatccac tggtactcgc agctgctcta ccaaataggc acctggctcc
     1681 tggacagcga ggccctgcac ccgctgggca tggcggtcaa gtccagctga agccgggggg
     1741 ccgggggagg ggcgcgggag ggggcggggc ggggcagcaa cagcaacgca aagcaaaaag
     1801 acactcggaa aaggcgcacg aaccagactg agttataata agaataagaa taataaagta
     1861 ggacagtcca aagtagactc taaggaaaca aggaccccgg gaagttttgt tgttgtgctt
     1921 agttgatata tattttttga atttttttgg ttattgtttt attttggtta ttttttcctc
     1981 ctctcctggc tatttatttg tttggtatga atagatgttt taaataatat gaaccggacc
     2041 ttcaagagcc ttaaatagtt tgtttcttgg ataatttatt atgatcatgt gaactgtact
     2101 cacgggggaa agattatttt gtgaggccaa gcaacctgct cagagtctat ttttctacat
     2161 gtccctcgtc ccggctgtca gaaagcaaac ctctgtcccc gccatccctc ccttccatct
     2221 cctgcttctc agcaagtgca aactcaaacg tgcttcatgg gggtccacaa attatatttt
     2281 tatacacaga attgtaaatt agattttttg agagatcaat acttaactga attacatttc
     2341 atttttgaaa tagtgtaaaa tatgaaaata tattatttta atttaactag tttccgatgt
     2401 aacagccatc tcctctgttg tctttatggt ttcatattcc ctttgtattc accattttgc
     2461 cacattcttg gaagccaaga ctgttacaca cacaacatac acacacactt ttctttttct
     2521 tttcttttct tttttttttt tttttttttt tttggacaaa ctggaagaac tgttattttt
     2581 aacttcaaag aatttattag aaaataatat tttttaaaag cgcacatagt gacgagccca
     2641 cgaggatgga gcctgcagtt tgtacagaga aaacaaagga tgtttttgca ttaataaatt
     2701 gagaaataac gctgtaaatt tactaaaatg tatttttgaa tattttgtaa tagttttata
     2761 gaaataaaat gtgccatgca cagaacgctt agtatctaat aactaagaat tcctgttgca
     2821 gccctttttc ttttagtttt tggcttcttt gtttgggaaa cctagcgctg acaggagctc
     2881 ccaatattct atttagatgt gttgcttata ctgtgaactc agactgactg acttaggtaa
     2941 ccaaagtagg cacacaaacc aacttgtttc ttctcatggc tggagaaacc tcagctctgt
     3001 ttgtatttat tgtgtgaagc tctttctaca ctcccaaagg ttgggagtgc cattcgtggg
     3061 gactgtgctg tccccctcac cccacccctt aactagcaaa gcctgatgtg taagcccaga
     3121 ggaggtggcc tggggatggc caccaacaac cttctcttag gactcctgtg tgtggttgct
     3181 gggcagaccc ctggcctgac cctgtttgtg cttctctgat ctgtagggag gaggctcatt
     3241 gctgctttct gaggtcctgt tgtgtccctt ccagaaagca tccttagaag agaggacccg
     3301 gtttgatctt ctctgaagct cctatcctct tttcttgagg gtccccttaa atctgagtgg
     3361 caagcccaca gtggcgaggg ccagtcgctg gaatgtcggg gctgctgttg aggtcctcag
     3421 gctacactgg ttgtctgtgt cacatggcgg tcgggcgtgg actttgatcc ctgttgagag
     3481 agcatgctgc tgtgggcgct gggctgggga aggtccttcc atgcttcatg ctgccttgga
     3541 ggtttggcca agagggtctc tgcccttggc ggttgtcagg gtcccaggtg gaggactact
     3601 cccagttctt tggcttacgg aaggtgtctg ccatgctttg tgctttgggc cgaatcgtct
     3661 gagcaggctg ggccttggaa gagttgcgct gcatgagctt ggggcctccc agcagctgca
     3721 gcctgtgtag aaggtggtcc aggcttaggg aacaggagtg aacagacttc agccccacct
     3781 ggcaggggct ggctcccgag gttgggccca gtccctgagg gtctgctctg ctacgggtct
     3841 gcccttgagt ggccttccgt ggagggtgtg tgaccaggtg gatggcgcag ggcctctgga
     3901 gccctctcct caggagcagt cctcagcctt tttctgtaaa agacttttct ttggtgttct
     3961 aggtggtcag caggttccag gctggtgttt acaatctcgg aggaagtgcg atggtttctg
     4021 ttcttttgac agttcagtct gatttcaagt cagtcgaaag cgaaccagaa gcaccgggca
     4081 cagcagctcc tctggctgtg tagacagacc tggcaatgtg gccgtgcagc ccagacgatc
     4141 agagagaagc caggcgttga ccaagcccca aggtgcctga ggccatggtg caactctgct
     4201 ggtgactggg gcaccttgga gcagagcttc acccggatgg gaaatcctca ctcctgggtg
     4261 gcactccctc ctggacaggc ccggtggcag agtgtccgtg ctgctgggtg ctgtccccag
     4321 ccctcctggt ccatcttctt aagatgcgtc cactgcttta tatttaaaat tctctttttc
     4381 acaggcaagg aaaggaaacc actgcttaga gacactaggt acagggcatc aagagggtgc
     4441 agcccagccc cgccaggacg aggcgccgac ttctcattca gggttgacgg agccaagagt
     4501 ttgtgcaaaa tgtatgcatg gtggttgctg ccagcctccc tcatgactaa atgcatatct
     4561 attcctgtca aaacgtgtat cacaatgtac ttgaaactgt tatctttgtg ctctattgtt
     4621 tgaataatta aagaaattac agagactctc
//
LOCUS       NM_000194               1395 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1), mRNA.
ACCESSION   NM_000194
VERSION     NM_000194.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1395)
  AUTHORS   Akram Z, Mahjabeen I, Umair M, Fahim M, Kayani MA, Fatima L, Ahmad
            MW, Jahan S, Afsar T, Almajwal A, Alruwaili NW, Khawar IA and Razak
            S.
  TITLE     Expression variation of OGG1 and HPRT gene and DNA damage in arsenic
            exposed industrial workers
  JOURNAL   PLoS One 17 (9), e0273211 (2022)
   PUBMED   36178927
  REMARK    GeneRIF: Expression variation of OGG1 and HPRT gene and DNA damage
            in arsenic exposed industrial workers. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 1395)
  AUTHORS   Pinho SA, Costa CF, Deus CM, Pinho SLC, Miranda-Santos I, Afonso G,
            Bagshaw O, Stuart JA, Oliveira PJ and Cunha-Oliveira T.
  TITLE     Mitochondrial and metabolic remodelling in human skin fibroblasts in
            response to glucose availability
  JOURNAL   FEBS J 289 (17), 5198-5217 (2022)
   PUBMED   35213938
REFERENCE   3  (bases 1 to 1395)
  AUTHORS   Khandelwal R, Sharma AK, Biswa BB and Sharma Y.
  TITLE     Extracellular secretagogin is internalized into the cells through
            endocytosis
  JOURNAL   FEBS J 289 (11), 3183-3204 (2022)
   PUBMED   34967502
REFERENCE   4  (bases 1 to 1395)
  AUTHORS   Ueda S, Hirata T and Sakasegawa SI.
  TITLE     Hypoxanthine-guanine phosphoribosyltransferase is activated via
            positive cooperativity between guanine and IMP
  JOURNAL   FEBS Lett 596 (8), 1072-1080 (2022)
   PUBMED   35114018
  REMARK    GeneRIF: Hypoxanthine-guanine phosphoribosyltransferase is activated
            via positive cooperativity between guanine and IMP.
REFERENCE   5  (bases 1 to 1395)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   6  (bases 1 to 1395)
  AUTHORS   Jinnah,H.A.
  TITLE     HPRT1 Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301328
REFERENCE   7  (bases 1 to 1395)
  AUTHORS   Sculley DG, Dawson PA, Emmerson BT and Gordon RB.
  TITLE     A review of the molecular basis of hypoxanthine-guanine
            phosphoribosyltransferase (HPRT) deficiency
  JOURNAL   Hum Genet 90 (3), 195-207 (1992)
   PUBMED   1487231
  REMARK    Review article
REFERENCE   8  (bases 1 to 1395)
  AUTHORS   Sege-Peterson K, Chambers J, Page T, Jones OW and Nyhan WL.
  TITLE     Characterization of mutations in phenotypic variants of hypoxanthine
            phosphoribosyltransferase deficiency
  JOURNAL   Hum Mol Genet 1 (6), 427-432 (1992)
   PUBMED   1301916
REFERENCE   9  (bases 1 to 1395)
  AUTHORS   Lightfoot T, Joshi R, Nuki G and Snyder FF.
  TITLE     The point mutation of hypoxanthine-guanine phosphoribosyltransferase
            (HPRTEdinburgh) and detection by allele-specific polymerase chain
            reaction
  JOURNAL   Hum Genet 88 (6), 695-696 (1992)
   PUBMED   1551676
REFERENCE   10  (bases 1 to 1395)
  AUTHORS   Holden,J.A. and Kelley,W.N.
  TITLE     Human hypoxanthine-guanine phosphoribosyltransferase. Evidence for
            tetrameric structure
  JOURNAL   J Biol Chem 253 (12), 4459-4463 (1978)
   PUBMED   659426
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.174892.1,
            SRR3476690.20350.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000298556.8/ ENSP00000298556.7
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004383.1, M31642.1 and
            BC000578.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000194.2.
            Summary: The protein encoded by this gene is a transferase, which
            catalyzes conversion of hypoxanthine to inosine monophosphate and
            guanine to guanosine monophosphate via transfer of the
            5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This
            enzyme plays a central role in the generation of purine nucleotides
            through the purine salvage pathway. Mutations in this gene result
            in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1395
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.2-q26.3"
     gene            1..1395
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /note="hypoxanthine phosphoribosyltransferase 1"
                     /db_xref="GeneID:3251"
                     /db_xref="HGNC:HGNC:5157"
                     /db_xref="MIM:308000"
     CDS             148..804
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /EC_number="2.4.2.8"
                     /note="HGPRTase; hypoxanthine-guanine
                     phosphoribosyltransferase 1; testicular tissue protein Li
                     89; hypoxanthine guanine phosphoribosyl transferase"
                     /codon_start=1
                     /product="hypoxanthine-guanine phosphoribosyltransferase"
                     /protein_id="NP_000185.1"
                     /db_xref="CCDS:CCDS14641.1"
                     /db_xref="GeneID:3251"
                     /db_xref="HGNC:HGNC:5157"
                     /db_xref="MIM:308000"
                     /translation="MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDR
                     TERLARDVMKEMGGHHIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMTVDFIRLKS
                     YCNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKVASL
                     LVKRTPRSVGYKPDFVGFEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA"
     misc_feature    151..153
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000269|PubMed:7107641; propagated from
                     UniProtKB/Swiss-Prot (P00492.2); acetylation site"
     misc_feature    454..456
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P00493; propagated from
                     UniProtKB/Swiss-Prot (P00492.2); acetylation site"
     misc_feature    571..573
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P27605; propagated from
                     UniProtKB/Swiss-Prot (P00492.2); phosphorylation site"
     regulatory      1375..1380
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /note="hexamer: AATAAA"
     polyA_site      1395
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /note="major polyA site"
ORIGIN
        1 agcttcaggc ggctgcgacg agccctcagg cgaacctctc ggctttcccg cgcggcgccg
       61 cctcttgctg cgcctccgcc tcctcctctg ctccgccacc ggcttcctcc tcctgagcag
      121 tcagcccgcg cgccggccgg ctccgttatg gcgacccgca gccctggcgt cgtgattagt
      181 gatgatgaac caggttatga ccttgattta ttttgcatac ctaatcatta tgctgaggat
      241 ttggaaaggg tgtttattcc tcatggacta attatggaca ggactgaacg tcttgctcga
      301 gatgtgatga aggagatggg aggccatcac attgtagccc tctgtgtgct caaggggggc
      361 tataaattct ttgctgacct gctggattac atcaaagcac tgaatagaaa tagtgataga
      421 tccattccta tgactgtaga ttttatcaga ctgaagagct attgtaatga ccagtcaaca
      481 ggggacataa aagtaattgg tggagatgat ctctcaactt taactggaaa gaatgtcttg
      541 attgtggaag atataattga cactggcaaa acaatgcaga ctttgctttc cttggtcagg
      601 cagtataatc caaagatggt caaggtcgca agcttgctgg tgaaaaggac cccacgaagt
      661 gttggatata agccagactt tgttggattt gaaattccag acaagtttgt tgtaggatat
      721 gcccttgact ataatgaata cttcagggat ttgaatcatg tttgtgtcat tagtgaaact
      781 ggaaaagcaa aatacaaagc ctaagatgag agttcaagtt gagtttggaa acatctggag
      841 tcctattgac atcgccagta aaattatcaa tgttctagtt ctgtggccat ctgcttagta
      901 gagctttttg catgtatctt ctaagaattt tatctgtttt gtactttaga aatgtcagtt
      961 gctgcattcc taaactgttt atttgcacta tgagcctata gactatcagt tccctttggg
     1021 cggattgttg tttaacttgt aaatgaaaaa attctcttaa accacagcac tattgagtga
     1081 aacattgaac tcatatctgt aagaaataaa gagaagatat attagttttt taattggtat
     1141 tttaattttt atatatgcag gaaagaatag aagtgattga atattgttaa ttataccacc
     1201 gtgtgttaga aaagtaagaa gcagtcaatt ttcacatcaa agacagcatc taagaagttt
     1261 tgttctgtcc tggaattatt ttagtagtgt ttcagtaatg ttgactgtat tttccaactt
     1321 gttcaaatta ttaccagtga atctttgtca gcagttccct tttaaatgca aatcaataaa
     1381 ttcccaaaaa tttaa
//
LOCUS       NM_000195               3703 bp    mRNA    linear   PRI 05-JUL-2023
DEFINITION  Homo sapiens HPS1 biogenesis of lysosomal organelles complex 3
            subunit 1 (HPS1), transcript variant 1, mRNA.
ACCESSION   NM_000195
VERSION     NM_000195.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3703)
  AUTHORS   Shakil M, Akbar A, Aisha NM, Hussain I, Ullah MI, Atif M, Kaul H,
            Amar A, Latif MZ, Qureshi MA and Mahmood S.
  TITLE     Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and
            HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani
            Families
  JOURNAL   Genes (Basel) 13 (3), 503 (2022)
   PUBMED   35328057
  REMARK    GeneRIF: Delineating Novel and Known Pathogenic Variants in TYR,
            OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA)
            Pakistani Families. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3703)
  AUTHORS   Suezawa T, Kanagaki S, Korogi Y, Nakao K, Hirai T, Murakami K,
            Hagiwara M and Gotoh S.
  TITLE     Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using
            patient-specific iPSCs
  JOURNAL   Respir Res 22 (1), 284 (2021)
   PUBMED   34736469
  REMARK    GeneRIF: Modeling of lung phenotype of Hermansky-Pudlak syndrome
            type I using patient-specific iPSCs. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3703)
  AUTHORS   Wang C, Shi P, Li Q, Chen C, Zhao X, Zhang R and Kong X.
  TITLE     Hermansky-Pudlak syndrome: Five Chinese patients with novel variants
            in HPS1 and HPS6
  JOURNAL   Eur J Med Genet 64 (6), 104228 (2021)
   PUBMED   33878481
  REMARK    GeneRIF: Hermansky-Pudlak syndrome: Five Chinese patients with novel
            variants in HPS1 and HPS6.
REFERENCE   4  (bases 1 to 3703)
  AUTHORS   Yu J, He X, Wei A, Liu T, Zhang Q, Pan Y, Hao Z, Yang L, Yuan Y,
            Zhang Z, Zhang C, Hao C, Liu Z and Li W.
  TITLE     HPS1 Regulates the Maturation of Large Dense Core Vesicles and
            Lysozyme Secretion in Paneth Cells
  JOURNAL   Front Immunol 11, 560110 (2020)
   PUBMED   33224134
  REMARK    GeneRIF: HPS1 Regulates the Maturation of Large Dense Core Vesicles
            and Lysozyme Secretion in Paneth Cells. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 3703)
  AUTHORS   Ghafouri-Fard S, Hashemi-Gorji F, Yassaee VR, Alipour N and
            Miryounesi M.
  TITLE     A Novel Splice Site Mutation in HPS1 Gene is Associated with
            Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family
  JOURNAL   Int J Mol Cell Med 5 (3), 192-195 (2016)
   PUBMED   27942505
REFERENCE   6  (bases 1 to 3703)
  AUTHORS   Bailin T, Oh J, Feng GH, Fukai K and Spritz RA.
  TITLE     Organization and nucleotide sequence of the human Hermansky-Pudlak
            syndrome (HPS) gene
  JOURNAL   J Invest Dermatol 108 (6), 923-927 (1997)
   PUBMED   9182823
REFERENCE   7  (bases 1 to 3703)
  AUTHORS   Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N
            and Spritz RA.
  TITLE     Positional cloning of a gene for Hermansky-Pudlak syndrome, a
            disorder of cytoplasmic organelles
  JOURNAL   Nat Genet 14 (3), 300-306 (1996)
   PUBMED   8896559
REFERENCE   8  (bases 1 to 3703)
  AUTHORS   Wildenberg SC, Oetting WS, Almodovar C, Krumwiede M, White JG and
            King RA.
  TITLE     A gene causing Hermansky-Pudlak syndrome in a Puerto Rican
            population maps to chromosome 10q2
  JOURNAL   Am J Hum Genet 57 (4), 755-765 (1995)
   PUBMED   7573033
REFERENCE   9  (bases 1 to 3703)
  AUTHORS   Fukai K, Oh J, Frenk E, Almodovar C and Spritz RA.
  TITLE     Linkage disequilibrium mapping of the gene for Hermansky-Pudlak
            syndrome to chromosome 10q23.1-q23.3
  JOURNAL   Hum Mol Genet 4 (9), 1665-1669 (1995)
   PUBMED   8541858
REFERENCE   10  (bases 1 to 3703)
  AUTHORS   Introne,W.J., Huizing,M., Malicdan,M.C.V., O'Brien,K.J. and
            Gahl,W.A.
  TITLE     Hermansky-Pudlak Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301464
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U65676.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000361490.9/ ENSP00000355310.4
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA385131.1, U65676.1,
            AL833734.1, AL139243.11 and BF447504.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000195.4.
            Summary: This gene encodes a protein that may play a role in
            organelle biogenesis associated with melanosomes, platelet dense
            granules, and lysosomes. The encoded protein is a component of
            three different protein complexes termed biogenesis of
            lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5.
            Mutations in this gene are associated with Hermansky-Pudlak
            syndrome type 1. Alternative splicing results in multiple
            transcript variants. A pseudogene related to this gene is located
            on chromosome 22. [provided by RefSeq, Aug 2015].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). Variants 1, 6, and 7 all encode the same isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3703
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     gene            1..3703
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="HPS1 biogenesis of lysosomal organelles complex 3
                     subunit 1"
                     /db_xref="GeneID:3257"
                     /db_xref="HGNC:HGNC:5163"
                     /db_xref="MIM:604982"
     misc_feature    157..159
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="upstream in-frame stop codon"
     CDS             235..2337
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="isoform a is encoded by transcript variant 1;
                     Hermansky-Pudlak syndrome 1 protein; BLOC-3 complex member
                     HPS1"
                     /codon_start=1
                     /product="BLOC-3 complex member HPS1 isoform a"
                     /protein_id="NP_000186.2"
                     /db_xref="CCDS:CCDS7475.1"
                     /db_xref="GeneID:3257"
                     /db_xref="HGNC:HGNC:5163"
                     /db_xref="MIM:604982"
                     /translation="MKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALED
                     QLSTLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYVLHLFGECLFIAINGDHTESEGD
                     LRRKLYVLKYLFEVHFGLVTVDGHLIRKELRPPDLAQRVQLWEHFQSLLWTYSRLREQE
                     QCFAVEALERLIHPQLCELCIEALERHVIQAVNTSPERGGEEALHAFLLVHSKLLAFYS
                     SHSASSLRPADLLALILLVQDLYPSESTAEDDIQPSPRRARSSQNIPVQQAWSPHSTGP
                     TGGSSAETETDSFSLPEEYFTPAPSPGDQSSGSTIWLEGGTPPMDALQIAEDTLQTLVP
                     HCPVPSGPRRIFLDANVKESYCPLVPHTMYCLPLWQGINLVLLTRSPSAPLALVLSQLM
                     DGFSMLEKKLKEGPEPGASLRSQPLVGDLRQRMDKFVKNRGAQEIQSTWLEFKAKAFSK
                     SEPGSSWELLQACGKLKRQLCAIYRLNFLTTAPSRGGPHLPQHLQDQVQRLMREKLTDW
                     KDFLLVKSRRNITMVSYLEDFPGLVHFIYVDRTTGQMVAPSLNCSQKTSSELGKGPLAA
                     FVKTKVWSLIQLARRYLQKGYTTLLFQEGDFYCSYFLWFENDMGYKLQMIEVPVLSDDS
                     VPIGMLGGDYYRKLLRYYSKNRPTEAVRCYELLALHLSVIPTDLLVQQAGQLARRLWEA
                     SRIPLL"
     misc_feature    367..387
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92902.2);
                     Region: [DE]-X(4)-L-L 1"
     misc_feature    673..693
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92902.2);
                     Region: [DE]-X(4)-L-L 2"
     misc_feature    979..1185
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92902.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1780..1800
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92902.2);
                     Region: [DE]-X(4)-L-L 3"
     misc_feature    2164..2184
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92902.2);
                     Region: [DE]-X(4)-L-L 4"
     misc_feature    2326..2334
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92902.2);
                     Region: Melanosome targeting signal. /evidence=ECO:0000255"
     regulatory      2852..2857
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="hexamer: AATAAA"
     polyA_site      2886
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="major polyA site"
     regulatory      3669..3674
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="hexamer: AATAAA"
     polyA_site      3703
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
ORIGIN
        1 aagcgcgccc gggctcctgc aggcggggcg ctgtgcgcgc cgcgatccgg tacgtgggcc
       61 tccgggctgt cccctctggg ggcggcgatc ctccctccgg agcccccctt caaccctccc
      121 ggaagtgagg accagggatg ctgtgctgct ctcccatgag ccagtcaccg agtcggtctg
      181 ctgcagccct ttctgaacct ctggccgtct ggatgctcca ctgtgcttgc caagatgaag
      241 tgcgtcttgg tggccactga gggcgcagag gtcctcttct actggacaga tcaggagttt
      301 gaagagagtc tccggctgaa gttcgggcag tcagagaatg aggaagaaga gctccctgcc
      361 ctggaggacc agctcagcac cctcctagcc ccggtcatca tctcctccat gacgatgctg
      421 gagaagctct cggacaccta cacctgcttc tccacggaaa atggcaactt cctgtatgtc
      481 cttcacctgt ttggagaatg cctgttcatt gccatcaatg gtgaccacac cgagagcgag
      541 ggggacctgc ggcggaagct gtatgtgctc aagtacctgt ttgaagtgca ctttgggctg
      601 gtgactgtgg acggtcatct tatccgaaag gagctgcggc ccccagacct ggcgcagcgt
      661 gtccagctgt gggagcactt ccagagcctg ctgtggacct acagccgcct gcgggagcag
      721 gagcagtgct tcgccgtgga ggccctggag cgactgattc acccccagct ctgtgagctg
      781 tgcatagagg cgctggagcg gcacgtcatc caggctgtca acaccagccc cgagcgggga
      841 ggcgaggagg ccctgcatgc cttcctgctc gtgcactcca agctgctggc attctactct
      901 agccacagtg ccagctccct gcgcccggcc gacctgcttg ccctcatcct cctggttcag
      961 gacctctacc ccagcgagag cacagcagag gacgacattc agccttcccc gcggagggcc
     1021 cggagcagcc agaacatccc cgtgcagcag gcctggagcc ctcactccac gggcccaact
     1081 ggggggagct ctgcagagac ggagacagac agcttctccc tccctgagga gtacttcaca
     1141 ccagctcctt cccctggcga tcagagctca ggtagcacca tctggctgga ggggggcacc
     1201 ccccccatgg atgcccttca gatagcagag gacaccctcc aaacactggt tccccactgc
     1261 cctgtgcctt ccggccccag aaggatcttc ctggatgcca acgtgaagga aagctactgc
     1321 cccctagtgc cccacaccat gtactgcctg cccctgtggc agggcatcaa cctggtgctc
     1381 ctgaccagga gccccagcgc gcccctggcc ctggttctgt cccagctgat ggatggcttc
     1441 tccatgctgg agaagaagct gaaggaaggg ccggagcccg gggcctccct gcgctcccag
     1501 cccctcgtgg gagacctgcg ccagaggatg gacaagtttg tcaagaatcg aggggcacag
     1561 gagattcaga gcacctggct ggagtttaag gccaaggctt tctccaaaag tgagcccgga
     1621 tcctcctggg agctgctcca ggcatgtggg aagctgaagc ggcagctctg cgccatctac
     1681 cggctgaact ttctgaccac agcccccagc aggggaggcc cacacctgcc ccagcacctg
     1741 caggaccaag tgcagaggct catgcgggag aagctgacgg actggaagga cttcttgctg
     1801 gtgaagagca ggaggaacat caccatggtg tcctacctag aagacttccc aggcttggtg
     1861 cacttcatct atgtggaccg caccactggg cagatggtgg cgccttccct caactgcagt
     1921 caaaagacct cgtcggagtt gggcaagggg ccgctggctg cctttgtcaa aactaaggtc
     1981 tggtctctga tccagctggc gcgcagatac ctgcagaagg gctacaccac gctgctgttc
     2041 caggaggggg atttctactg ctcctacttc ctgtggttcg agaatgacat ggggtacaaa
     2101 ctccagatga tcgaggtgcc cgtcctctcc gacgactcag tgcctatcgg catgctggga
     2161 ggagactact acaggaagct cctgcgctac tacagcaaga accgcccaac cgaggctgtc
     2221 aggtgctacg agctgctggc cctgcacctg tctgtcatcc ccactgacct gctggtgcag
     2281 caggccggcc agctggcccg gcgcctctgg gaggcctccc gtatccccct gctctaggcc
     2341 aaggtggccg cagtctgcct ttgcatcctg tcctccagcc acccttgctt gccactgttc
     2401 cccatgacga gagcctcctg tctgcagtgg ccatcctgag gatagggcag agtgcccagg
     2461 gtggccccag ggcttctaaa accccaccta gaccaccctc catgtcaggt actgagcaag
     2521 gccccagatc cttctctctg gaggaagagg gaagcccagg ggtcctgttt gtaaaacaac
     2581 ggtggcaaca gctcctcttc cagagctgcc tctgccttta tcctgggaga tggggaggaa
     2641 gccccatctc tgctgttccc tgcgtggagg aagcccaccc agcaagctct ctcctacccc
     2701 aggtaaaagg tgctcctttg cctgggtttg aattccagcg ctgccacttc ctctctgcac
     2761 ctcctggcaa gtttcttcta ttccccacgt ttaaagcgat ggcacctccg tcccagggtg
     2821 gtgtgaggat tacccagtgt ggtaggtgct caataaatgt tggtcattgt tatcactgaa
     2881 gcccaacatg ctagtgcttc tagacccttc tgtcagtgct gataagccct tgctaagtcc
     2941 cagccccttc atgcttggct ggcgtctgcc ctagggctgg ggttctcaag cccctggccc
     3001 tggcccagag atttggattc ccttggcggc cgtggagccc agcctttgat gtctttcaaa
     3061 gcttctgtgg tgcgccctgg attgagaacc accacccgag gggtacagcc cctctcttcc
     3121 aaccgagaag ttcctgtccc agaatggacc cagggacaag agaccctgag agccctggga
     3181 ctgggagtgt ctgctcctct gaggccagga ggccggtgct gggccagaga ggacggcgtg
     3241 gcgaaagtca gcgtccactg cagcacagga tcagatggcc gtgtgctgtg catgcaggag
     3301 cctcgccttc tgtgtcttta gtcttgagcc aaaatttgct caaagactga tctcttcctt
     3361 gcagggaaca gctttggggc tgggggaact agaacccaca tgttggtcta aaccctgaga
     3421 aggtggcagt gaggaagtat cccctcaggt gactggatct gtgttcctcc ttaacatcat
     3481 ctgatggaat ggcaatgaaa agcgtggatt gtggaaaata cagaaaaaca taaaggaaaa
     3541 aactccaatc ccctgagccc accactgttc aggacccctg cttttgtcac ctactatttc
     3601 cctttagttt ttagcagcgg ctggatgtga tatgtctagt ttaaccagtc cccttgatct
     3661 ttctatataa taaataacac aggagtgaac atcctgaatc aga
//
LOCUS       NM_000196               1896 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens hydroxysteroid 11-beta dehydrogenase 2 (HSD11B2), mRNA.
ACCESSION   NM_000196
VERSION     NM_000196.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1896)
  AUTHORS   Vassiliou AG, Vassiliadi DA, Keskinidou C, Jahaj E, Botoula E,
            Tsagarakis S, Kotanidou A and Dimopoulou I.
  TITLE     Down-Regulation of the Mineralocorticoid Receptor (MR) and
            Up-Regulation of Hydroxysteroid 11-Beta Dehydrogenase Type 2
            (HSD11B2) Isoenzyme in Critically Ill Patients
  JOURNAL   Clin Med Res 21 (1), 6-13 (2023)
   PUBMED   37130784
  REMARK    GeneRIF: Down-Regulation of the Mineralocorticoid Receptor (MR) and
            Up-Regulation of Hydroxysteroid 11-Beta Dehydrogenase Type 2
            (HSD11B2) Isoenzyme in Critically Ill Patients.
REFERENCE   2  (bases 1 to 1896)
  AUTHORS   Wei X, Yuan Y and Yang Q.
  TITLE     Long noncoding RNA PVT1 accelerates the growth of placental
            trophoblasts in preeclampsia through the microRNA-24-3p/HSD11B2 axis
  JOURNAL   Mol Reprod Dev 89 (7), 271-280 (2022)
   PUBMED   35735229
  REMARK    GeneRIF: Long noncoding RNA PVT1 accelerates the growth of placental
            trophoblasts in preeclampsia through the microRNA-24-3p/HSD11B2
            axis.
REFERENCE   3  (bases 1 to 1896)
  AUTHORS   De Santis D, Castagna A, Danese E, Udali S, Martinelli N, Morandini
            F, Veneri M, Bertolone L, Olivieri O, Friso S and Pizzolo F.
  TITLE     Detection of Urinary Exosomal HSD11B2 mRNA Expression: A Useful
            Novel Tool for the Diagnostic Approach of Dysfunctional
            11beta-HSD2-Related Hypertension
  JOURNAL   Front Endocrinol (Lausanne) 12, 681974 (2021)
   PUBMED   34497581
  REMARK    GeneRIF: Detection of Urinary Exosomal HSD11B2 mRNA Expression: A
            Useful Novel Tool for the Diagnostic Approach of Dysfunctional
            11beta-HSD2-Related Hypertension. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1896)
  AUTHORS   Lamade EK, Hendlmeier F, Wudy SA, Witt SH, Rietschel M, Coenen M,
            Gilles M and Deuschle M.
  TITLE     Rhythm of Fetoplacental 11beta-Hydroxysteroid Dehydrogenase Type 2 -
            Fetal Protection From Morning Maternal Glucocorticoids
  JOURNAL   J Clin Endocrinol Metab 106 (6), 1630-1636 (2021)
   PUBMED   33621325
  REMARK    GeneRIF: Rhythm of Fetoplacental 11beta-Hydroxysteroid Dehydrogenase
            Type 2 - Fetal Protection From Morning Maternal Glucocorticoids.
REFERENCE   5  (bases 1 to 1896)
  AUTHORS   Gao FQ, Han J, Zhang QY, Ma JH, Sun W, Cheng LM, Li ZR and Ma J.
  TITLE     [Genetic expression differences of 11 beta-hydroxysteroid
            dehydrogenase in the bone microvascular endothelial cells derived
            from different regions of the human femoral head]
  JOURNAL   Zhonghua Yi Xue Za Zhi 100 (43), 3457-3462 (2020)
   PUBMED   33238679
  REMARK    GeneRIF: [Genetic expression differences of 11 beta-hydroxysteroid
            dehydrogenase in the bone microvascular endothelial cells derived
            from different regions of the human femoral head].
REFERENCE   6  (bases 1 to 1896)
  AUTHORS   Wilson RC, Harbison MD, Krozowski ZS, Funder JW, Shackleton CH,
            Hanauske-Abel HM, Wei JQ, Hertecant J, Moran A, Neiberger RE et al.
  TITLE     Several homozygous mutations in the gene for 11 beta-hydroxysteroid
            dehydrogenase type 2 in patients with apparent mineralocorticoid
            excess
  JOURNAL   J Clin Endocrinol Metab 80 (11), 3145-3150 (1995)
   PUBMED   7593417
REFERENCE   7  (bases 1 to 1896)
  AUTHORS   Wilson RC, Krozowski ZS, Li K, Obeyesekere VR, Razzaghy-Azar M,
            Harbison MD, Wei JQ, Shackleton CH, Funder JW and New MI.
  TITLE     A mutation in the HSD11B2 gene in a family with apparent
            mineralocorticoid excess
  JOURNAL   J Clin Endocrinol Metab 80 (7), 2263-2266 (1995)
   PUBMED   7608290
REFERENCE   8  (bases 1 to 1896)
  AUTHORS   Krozowski Z, Baker E, Obeyesekere V and Callen DF.
  TITLE     Localization of the gene for human 11 beta-hydroxysteroid
            dehydrogenase type 2 (HSD11B2) to chromosome band 16q22
  JOURNAL   Cytogenet Cell Genet 71 (2), 124-125 (1995)
   PUBMED   7656579
REFERENCE   9  (bases 1 to 1896)
  AUTHORS   Funder JW, Pearce PT, Smith R and Smith AI.
  TITLE     Mineralocorticoid action: target tissue specificity is enzyme, not
            receptor, mediated
  JOURNAL   Science 242 (4878), 583-585 (1988)
   PUBMED   2845584
REFERENCE   10  (bases 1 to 1896)
  AUTHORS   Stewart PM, Wallace AM, Valentino R, Burt D, Shackleton CH and
            Edwards CR.
  TITLE     Mineralocorticoid activity of liquorice: 11-beta-hydroxysteroid
            dehydrogenase deficiency comes of age
  JOURNAL   Lancet 2 (8563), 821-824 (1987)
   PUBMED   2889032
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC036780.1, U26726.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000326152.6/ ENSP00000316786.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009061.10, BC036780.1 and
            BC064536.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000196.3.
            Summary: There are at least two isozymes of the corticosteroid
            11-beta-dehydrogenase, a microsomal enzyme complex responsible for
            the interconversion of cortisol and cortisone. The type I isozyme
            has both 11-beta-dehydrogenase (cortisol to cortisone) and
            11-oxoreductase (cortisone to cortisol) activities. The type II
            isozyme, encoded by this gene, has only 11-beta-dehydrogenase
            activity. In aldosterone-selective epithelial tissues such as the
            kidney, the type II isozyme catalyzes the glucocorticoid cortisol
            to the inactive metabolite cortisone, thus preventing illicit
            activation of the mineralocorticoid receptor. In tissues that do
            not express the mineralocorticoid receptor, such as the placenta
            and testis, it protects cells from the growth-inhibiting and/or
            pro-apoptotic effects of cortisol, particularly during embryonic
            development. Mutations in this gene cause the syndrome of apparent
            mineralocorticoid excess and hypertension. [provided by RefSeq, Feb
            2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1896
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..1896
                     /gene="HSD11B2"
                     /gene_synonym="AME; AME1; HSD11K; HSD2; SDR9C3"
                     /note="hydroxysteroid 11-beta dehydrogenase 2"
                     /db_xref="GeneID:3291"
                     /db_xref="HGNC:HGNC:5209"
                     /db_xref="MIM:614232"
     CDS             129..1346
                     /gene="HSD11B2"
                     /gene_synonym="AME; AME1; HSD11K; HSD2; SDR9C3"
                     /EC_number="1.1.1.146"
                     /note="short chain dehydrogenase/reductase family 9C member
                     3; corticosteroid 11-beta-dehydrogenase isozyme 2; 11-DH2;
                     11-beta-HSD2; NAD-dependent 11-beta-hydroxysteroid
                     dehydrogenase; -HSD11 type II; 11-beta-hydroxysteroid
                     dehydrogenase type II; 11-HSD type II; 11-beta-HSD type II"
                     /codon_start=1
                     /product="11-beta-hydroxysteroid dehydrogenase type 2"
                     /protein_id="NP_000187.3"
                     /db_xref="CCDS:CCDS10837.1"
                     /db_xref="GeneID:3291"
                     /db_xref="HGNC:HGNC:5209"
                     /db_xref="MIM:614232"
                     /translation="MERWPWPSGGAWLLVAARALLQLLRSDLRLGRPLLAALALLAALD
                     WLCQRLLPPPAALAVLAAAGWIALSRLARPQRLPVATRAVLITGCDSGFGKETAKKLDS
                     MGFTVLATVLELNSPGAIELRTCCSPRLRLLQMDLTKPGDISRVLEFTKAHTTSTGLWG
                     LVNNAGHNEVVADAELSPVATFRSCMEVNFFGALELTKGLLPLLRSSRGRIVTVGSPAG
                     DMPYPCLGAYGTSKAAVALLMDTFSCELLPWGVKVSIIQPGCFKTESVRNVGQWEKRKQ
                     LLLANLPQELLQAYGKDYIEHLHGQFLHSLRLAMSDLTPVVDAITDALLAARPRRRYYP
                     GQGLGLMYFIHYYLPEGLRRRFLQAFFISHCLPRALQPGQPGTTPPQDAAQDPNLSPGP
                     SPAVAR"
     misc_feature    1131..1145
                     /gene="HSD11B2"
                     /gene_synonym="AME; AME1; HSD11K; HSD2; SDR9C3"
                     /note="propagated from UniProtKB/Swiss-Prot (P80365.2);
                     Region: Essential for protein stability"
     misc_feature    1257..1343
                     /gene="HSD11B2"
                     /gene_synonym="AME; AME1; HSD11K; HSD2; SDR9C3"
                     /note="propagated from UniProtKB/Swiss-Prot (P80365.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1867..1872
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD11B2"
                     /gene_synonym="AME; AME1; HSD11K; HSD2; SDR9C3"
                     /note="hexamer: AATAAA"
     polyA_site      1896
                     /gene="HSD11B2"
                     /gene_synonym="AME; AME1; HSD11K; HSD2; SDR9C3"
                     /note="major polyA site"
ORIGIN
        1 gaaagcgagt gtccctctcg cgccccaggc cggtgtaccc ccgcactccg cgccccggcc
       61 tagaagctct ctctccccgc tccccggccc ggcccccgcc ccgccccgcc ccagcccgct
      121 gggccgccat ggagcgctgg ccttggccgt cgggcggcgc ctggctgctc gtggctgccc
      181 gcgcgctgct gcagctgctg cgctcagacc tgcgtctggg ccgcccgctg ctggcggcgc
      241 tggcgctgct ggccgcgctc gactggctgt gccagcgcct gctgcccccg ccggccgcac
      301 tcgccgtgct ggccgccgcc ggctggatcg cgttgtcccg cctggcgcgc ccgcagcgcc
      361 tgccggtggc cactcgcgcg gtgctcatca ccggctgtga ctctggtttt ggcaaggaga
      421 cggccaagaa actggactcc atgggcttca cggtgctggc caccgtattg gagttgaaca
      481 gccccggtgc catcgagctg cgtacctgct gctcccctcg cctaaggctg ctgcagatgg
      541 acctgaccaa accaggagac attagccgcg tgctagagtt caccaaggcc cacaccacca
      601 gcaccggcct gtggggcctc gtcaacaacg caggccacaa tgaagtagtt gctgatgcgg
      661 agctgtctcc agtggccact ttccgtagct gcatggaggt gaatttcttt ggcgcgctcg
      721 agctgaccaa gggcctcctg cccctgctgc gcagctcaag gggccgcatc gtgactgtgg
      781 ggagcccagc gggggacatg ccatatccgt gcttgggggc ctatggaacc tccaaagcgg
      841 ccgtggcgct actcatggac acattcagct gtgaactcct tccctggggg gtcaaggtca
      901 gcatcatcca gcctggctgc ttcaagacag agtcagtgag aaacgtgggt cagtgggaaa
      961 agcgcaagca attgctgctg gccaacctgc ctcaagagct gctgcaggcc tacggcaagg
     1021 actacatcga gcacttgcat gggcagttcc tgcactcgct acgcctggcc atgtccgacc
     1081 tcaccccagt tgtagatgcc atcacagatg cgctgctggc agctcggccc cgccgccgct
     1141 attaccccgg ccagggcctg gggctcatgt acttcatcca ctactacctg cctgaaggcc
     1201 tgcggcgccg cttcctgcag gccttcttca tcagtcactg tctgcctcga gcactgcagc
     1261 ctggccagcc tggcactacc ccaccacagg acgcagccca ggacccaaac ctgagccccg
     1321 gcccttcccc agcagtggct cggtgagcca tgtgcaccta tggcccagcc actgcagcac
     1381 aggaggctcc gtgagccctt ggttcctccc cgaaaacccc cagcattacg atcccccaag
     1441 tgtcctggac cctggcctaa agaatcccac ccccacttca tgcccactgc cgatgcccaa
     1501 tccaggcccg gtgaggccaa ggtttcccag tgagcctctg cgcctctcca ctgtttcatg
     1561 agcccaaaca ccctcctggc acaacgctct accctgcagc ttggagaact ccgctggatg
     1621 gggagtctca tgcaagactt cactgcagcc tttcacagga ctctgcagat agtgcctctg
     1681 caaactaagg agtgactagg tgggttgggg accccctcag gattgtttct cggcaccagt
     1741 gcctcagtgc tgcaattgag ggctaaatcc caagtgtctc ttgactggct caagaattag
     1801 ggccccaact acacaccccc aagccacagg gaagcatgta ctgtacttcc caattgccac
     1861 attttaaata aagacaaatt tttatttctt ctaaaa
//
LOCUS       NM_000197               1159 bp    mRNA    linear   PRI 24-MAR-2023
DEFINITION  Homo sapiens hydroxysteroid 17-beta dehydrogenase 3 (HSD17B3), mRNA.
ACCESSION   NM_000197
VERSION     NM_000197.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1159)
  AUTHORS   Ben Rhouma B, Kley M, Kallabi F, Kacem FH, Kammoun T, Safi W, Keskes
            L, Mnif M, Odermatt A and Belguith N.
  TITLE     Molecular mechanisms underlying the defects of two novel mutations
            in the HSD17B3 gene found in the Tunisian population
  JOURNAL   J Steroid Biochem Mol Biol 227, 106235 (2023)
   PUBMED   36563763
  REMARK    GeneRIF: Molecular mechanisms underlying the defects of two novel
            mutations in the HSD17B3 gene found in the Tunisian population.
REFERENCE   2  (bases 1 to 1159)
  AUTHORS   Zhu H, Yao H, Liu X, Xu Y, Liu Y, Luo Q, Chen Y, Shi Y, Chen F, Zhao
            S, Song H, Han B and Qiao J.
  TITLE     Lessons from 17beta-HSD3 deficiency: Clinical spectrum and complex
            molecular basis in Chinese patients
  JOURNAL   J Steroid Biochem Mol Biol 225, 106191 (2023)
   PUBMED   36154887
  REMARK    GeneRIF: Lessons from 17beta-HSD3 deficiency: Clinical spectrum and
            complex molecular basis in Chinese patients.
REFERENCE   3  (bases 1 to 1159)
  AUTHORS   Vicker N, Bailey HV, Day JM, Mahon MF, Smith A, Tutill HJ, Purohit A
            and Potter BVL.
  TITLE     Substituted Aryl Benzylamines as Potent and Selective Inhibitors of
            17beta-Hydroxysteroid Dehydrogenase Type 3
  JOURNAL   Molecules 26 (23), 7166 (2021)
   PUBMED   34885749
  REMARK    GeneRIF: Substituted Aryl Benzylamines as Potent and Selective
            Inhibitors of 17beta-Hydroxysteroid Dehydrogenase Type 3.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1159)
  AUTHORS   Levy-Khademi F, Zeligson S, Lavi E, Klopstock T, Chertin B,
            Avnon-Ziv C, Abulibdeh A, Renbaum P, Rosen T, Perlberg-Bengio S,
            Zahdeh F, Behar DM, Levy-Lahad E, Zangen D and Segel R.
  TITLE     The novel founder homozygous V225M mutation in the HSD17B3 gene
            causes aberrant splicing and XY-DSD
  JOURNAL   Endocrine 69 (3), 650-654 (2020)
   PUBMED   32372306
  REMARK    GeneRIF: The novel founder homozygous V225M mutation in the HSD17B3
            gene causes aberrant splicing and XY-DSD.
REFERENCE   5  (bases 1 to 1159)
  AUTHORS   Yazawa T, Imamichi Y, Uwada J, Sekiguchi T, Mikami D, Kitano T, Ida
            T, Sato T, Nemoto T, Nagata S, Islam Khan MR, Takahashi S, Ushikubi
            F, Suzuki N, Umezawa A and Taniguchi T.
  TITLE     Evaluation of 17beta-hydroxysteroid dehydrogenase activity using
            androgen receptor-mediated transactivation
  JOURNAL   J Steroid Biochem Mol Biol 196, 105493 (2020)
   PUBMED   31614207
  REMARK    GeneRIF: Establishment of HEK293 cells expressing various missense
            mutations in the HSD17B3 gene associated with 46,XY DSD revealed
            that this system is effective to evaluate the enzymatic activities
            of mutant proteins.
REFERENCE   6  (bases 1 to 1159)
  AUTHORS   Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI,
            Schwarz HP, Blethen SL, Mendonca BB, Bloise W, Witchel SF, Cutler GB
            Jr, Griffin JE, Wilson JD and Russel DW.
  TITLE     Molecular genetics and pathophysiology of 17 beta-hydroxysteroid
            dehydrogenase 3 deficiency
  JOURNAL   J Clin Endocrinol Metab 81 (1), 130-136 (1996)
   PUBMED   8550739
REFERENCE   7  (bases 1 to 1159)
  AUTHORS   Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB,
            Elliston KO, Wilson JD, Russell DW and Andersson S.
  TITLE     Male pseudohermaphroditism caused by mutations of testicular 17
            beta-hydroxysteroid dehydrogenase 3
  JOURNAL   Nat Genet 7 (1), 34-39 (1994)
   PUBMED   8075637
REFERENCE   8  (bases 1 to 1159)
  AUTHORS   Eckstein B, Cohen S, Farkas A and Rosler A.
  TITLE     The nature of the defect in familial male pseudohermaphroditism in
            Arabs of Gaza
  JOURNAL   J Clin Endocrinol Metab 68 (2), 477-485 (1989)
   PUBMED   2918056
REFERENCE   9  (bases 1 to 1159)
  AUTHORS   Rosler,A. and Kohn,G.
  TITLE     Male pseudohermaphroditism due to 17 beta-hydroxysteroid
            dehydrogenase deficiency: studies on the natural history of the
            defect and effect of androgens on gender role
  JOURNAL   J Steroid Biochem 19 (1B), 663-674 (1983)
   PUBMED   6310248
REFERENCE   10  (bases 1 to 1159)
  AUTHORS   Ademola Akesode,F., Meyer,W.J. 3rd and Migeon,C.J.
  TITLE     Male pseudohermaphroditism with gynaecomastia due to testicular
            17-ketosteroid reductase deficiency
  JOURNAL   Clin Endocrinol (Oxf) 7 (6), 443-452 (1977)
   PUBMED   598011
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.204577.1, BC034281.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375263.8/ ENSP00000364412.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY027495.1 and BC034281.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 18, 2018 this sequence version replaced NM_000197.1.
            Summary: This isoform of 17 beta-hydroxysteroid dehydrogenase is
            expressed predominantly in the testis and catalyzes the conversion
            of androstenedione to testosterone.  It preferentially uses NADP as
            cofactor.  Deficiency can result in male pseudohermaphroditism with
            gynecomastia. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1159
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.32"
     gene            1..1159
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /note="hydroxysteroid 17-beta dehydrogenase 3"
                     /db_xref="GeneID:3293"
                     /db_xref="HGNC:HGNC:5212"
                     /db_xref="MIM:605573"
     misc_feature    49..51
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /note="upstream in-frame stop codon"
     CDS             73..1005
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /EC_number="1.1.1.62"
                     /EC_number="1.1.1.64"
                     /note="17-beta-HSD3; estradiol 17-beta-dehydrogenase 2;
                     short chain dehydrogenase/reductase family 12C member 2;
                     testicular 17-beta-hydroxysteroid dehydrogenase;
                     testosterone 17-beta-dehydrogenase 3; 17-beta-HSD 3;
                     hydroxysteroid dehydrogenase 3"
                     /codon_start=1
                     /product="17-beta-hydroxysteroid dehydrogenase type 3"
                     /protein_id="NP_000188.1"
                     /db_xref="CCDS:CCDS6716.1"
                     /db_xref="GeneID:3293"
                     /db_xref="HGNC:HGNC:5212"
                     /db_xref="MIM:605573"
                     /translation="MGDVLEQFFILTGLLVCLACLAKCVRFSRCVLLNYWKVLPKSFLR
                     SMGQWAVITGAGDGIGKAYSFELAKRGLNVVLISRTLEKLEAIATEIERTTGRSVKIIQ
                     ADFTKDDIYEHIKEKLAGLEIGILVNNVGMLPNLLPSHFLNAPDEIQSLIHCNITSVVK
                     MTQLILKHMESRQKGLILNISSGIALFPWPLYSMYSASKAFVCAFSKALQEEYKAKEVI
                     IQVLTPYAVSTAMTKYLNTNVITKTADEFVKESLNYVTIGGETCGCLAHEILAGFLSLI
                     PAWAFYSGAFQRLLLTHYVAYLKLNTKVR"
     regulatory      1137..1142
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /note="hexamer: AATACA"
     polyA_site      1159
                     /gene="HSD17B3"
                     /gene_synonym="EDH17B3; SDR12C2"
                     /note="major polyA site"
ORIGIN
        1 agagcagcgt ggtcccagga ggcatacaca gagagccacg gccagggctg aaacagtctg
       61 ttgagtgcag ccatggggga cgtcctggaa cagttcttca tcctcacagg gctgctggtg
      121 tgcctggcct gcctggcgaa gtgcgtgaga ttctccagat gtgttttact gaactactgg
      181 aaagttttgc caaagtcttt cttgcggtca atgggacagt gggcagtgat cactggagca
      241 ggcgatggaa ttgggaaagc gtactcgttc gagctagcaa aacgtggact caatgttgtc
      301 cttattagcc ggacgctgga aaaactagag gccattgcca cagagatcga gcggactaca
      361 gggaggagtg tgaagattat acaagcagat tttacaaaag atgacatcta cgagcatatt
      421 aaagaaaaac ttgcaggctt agaaattgga attttagtca acaatgtcgg aatgcttcca
      481 aaccttctcc caagccattt cctgaacgca ccggatgaaa tccagagcct catccattgt
      541 aacatcacct ccgtagtcaa gatgacacag ctaattctga aacatatgga atcaaggcag
      601 aaaggtctca tcctgaacat ttcttctggg atagccctgt ttccttggcc tctctactcc
      661 atgtactcag cttccaaggc gtttgtgtgc gcattttcca aggccctgca agaggaatat
      721 aaagcaaaag aagtcatcat ccaggtgctg accccatatg ctgtctcgac tgcaatgaca
      781 aagtatctaa atacaaatgt gataaccaag actgctgatg agtttgtcaa agagtcattg
      841 aattatgtca caattggagg tgaaacctgt ggctgccttg cccatgaaat cttggcgggc
      901 tttctgagcc tgatcccggc ctgggccttc tacagcggtg ccttccaaag gctgctcctg
      961 acacactatg tggcatacct gaagctcaac accaaggtca ggtagccagg cggtgaggag
     1021 tccagcacaa ccttttcctc accagtccca tgctggctga agaggaccag aggagcagac
     1081 cagcacttca acctagtccg ctgaagatgg agggggctgg ggtcacagag gcatagaata
     1141 cacatttttt gccacttta
//
LOCUS       NM_000198               1675 bp    mRNA    linear   PRI 19-JUN-2023
DEFINITION  Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and
            steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA.
ACCESSION   NM_000198
VERSION     NM_000198.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1675)
  AUTHORS   Makretskaya N, Kalinchenko N, Tebieva I, Ionova S, Zinchenko R,
            Marakhonov A and Tiulpakov A.
  TITLE     High carrier frequency of a nonsense p.Trp230* variant in HSD3B2
            gene in Ossetians
  JOURNAL   Front Endocrinol (Lausanne) 14, 1146768 (2023)
   PUBMED   37274334
  REMARK    GeneRIF: High carrier frequency of a nonsense p.Trp230* variant in
            HSD3B2 gene in Ossetians. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1675)
  AUTHORS   Mellone S, Bertelli E, Roviglione B, Vurchio D, Ronzani S, Secco A,
            Felici E, Strozzi MM, Schena F and Giordano M.
  TITLE     Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on
            10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital
            Adrenal Hyperplasia
  JOURNAL   Genes (Basel) 13 (12), 2190 (2022)
   PUBMED   36553457
  REMARK    GeneRIF: Co-Occurrence of a Pathogenic HSD3B2 Variant and a
            Duplication on 10q22.3-q23.2 Detected in Newborn Twins with
            Salt-Wasting Congenital Adrenal Hyperplasia. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1675)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1675)
  AUTHORS   Tetti M, Castellano I, Venziano F, Magnino C, Veglio F, Mulatero P
            and Monticone S.
  TITLE     Role of Cryptochrome-1 and Cryptochrome-2 in Aldosterone-Producing
            Adenomas and Adrenocortical Cells
  JOURNAL   Int J Mol Sci 19 (6), 1675 (2018)
   PUBMED   29874863
  REMARK    GeneRIF: Independent silencing of CRY1 and CRY2 genes in HAC15 cells
            resulted in a mild upregulation of HSD3B2 without affecting HSD3B1
            expression. In conclusion, our results support the hypothesis that
            CRY1 and CRY2, being AngII-regulated genes, and showing a
            differential expression in APAs when compared with the adjacent
            adrenal cortex, might be involved in adrenal cell function, and in
            the regulation of aldosterone production Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 1675)
  AUTHORS   Osinski M, Wirstlein P, Wender-Ozegowska E, Mikolajczyk M,
            Jagodzinski PP and Szczepanska M.
  TITLE     HSD3B2, HSD17B1, HSD17B2, ESR1, ESR2 and AR expression in infertile
            women with endometriosis
  JOURNAL   Ginekol Pol 89 (3), 125-134 (2018)
   PUBMED   29664547
  REMARK    GeneRIF: Observed significant increase in HSD3B2 and ESR1
            transcripts in follicular eutropic endometrium from infertile women
            with endometriosis may be related to abnormal biological effect of
            E2 in endometrium, further affecting the development of human
            embryos.
REFERENCE   6  (bases 1 to 1675)
  AUTHORS   Rheaume E, Simard J, Morel Y, Mebarki F, Zachmann M, Forest MG, New
            MI and Labrie F.
  TITLE     Congenital adrenal hyperplasia due to point mutations in the type II
            3 beta-hydroxysteroid dehydrogenase gene
  JOURNAL   Nat Genet 1 (4), 239-245 (1992)
   PUBMED   1363812
REFERENCE   7  (bases 1 to 1675)
  AUTHORS   Lachance Y, Luu-The V, Verreault H, Dumont M, Rheaume E, Leblanc G
            and Labrie F.
  TITLE     Structure of the human type II 3 beta-hydroxysteroid
            dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) gene: adrenal
            and gonadal specificity
  JOURNAL   DNA Cell Biol 10 (10), 701-711 (1991)
   PUBMED   1741954
REFERENCE   8  (bases 1 to 1675)
  AUTHORS   Rheaume E, Lachance Y, Zhao HF, Breton N, Dumont M, de Launoit Y,
            Trudel C, Luu-The V, Simard J and Labrie F.
  TITLE     Structure and expression of a new complementary DNA encoding the
            almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta
            4-isomerase in human adrenals and gonads
  JOURNAL   Mol Endocrinol 5 (8), 1147-1157 (1991)
   PUBMED   1944309
REFERENCE   9  (bases 1 to 1675)
  AUTHORS   Morrison N, Nickson DA, McBride MW, Mueller UW, Boyd E and Sutcliffe
            RG.
  TITLE     Regional chromosomal assignment of human 3-beta-hydroxy-5-ene
            steroid dehydrogenase to 1p13.1 by non-isotopic in situ
            hybridisation
  JOURNAL   Hum Genet 87 (2), 223-225 (1991)
   PUBMED   2066113
REFERENCE   10  (bases 1 to 1675)
  AUTHORS   Zachmann,M., Forest,M.G. and De Peretti,E.
  TITLE     3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a
            girl with pubertal bone age
  JOURNAL   Horm Res 11 (6), 292-302 (1979)
   PUBMED   295036
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK313413.1, AK222997.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369416.4/ ENSP00000358424.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AV705363.1, BC038419.1 and
            AK222997.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000198.3.
            Summary: The protein encoded by this gene is a bifunctional enzyme
            that catalyzes the oxidative conversion of
            delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion
            of ketosteroids. It plays a crucial role in the biosynthesis of all
            classes of hormonal steroids. This gene is predominantly expressed
            in the adrenals and the gonads. Mutations in this gene are
            associated with 3-beta-hydroxysteroid dehydrogenase, type II,
            deficiency. Alternatively spliced transcript variants have been
            found for this gene. [provided by RefSeq, Oct 2009].
            Transcript Variant: This variant (1) represents the predominant
            transcript. Variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1675
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p12"
     gene            1..1675
                     /gene="HSD3B2"
                     /gene_synonym="HSD3B; HSDB; SDR11E2"
                     /note="hydroxy-delta-5-steroid dehydrogenase, 3 beta- and
                     steroid delta-isomerase 2"
                     /db_xref="GeneID:3284"
                     /db_xref="HGNC:HGNC:5218"
                     /db_xref="MIM:613890"
     misc_feature    8..10
                     /gene="HSD3B2"
                     /gene_synonym="HSD3B; HSDB; SDR11E2"
                     /note="upstream in-frame stop codon"
     CDS             143..1261
                     /gene="HSD3B2"
                     /gene_synonym="HSD3B; HSDB; SDR11E2"
                     /EC_number="1.1.1.145"
                     /EC_number="5.3.3.1"
                     /note="short chain dehydrogenase/reductase family 11E,
                     member 2; 3-beta-hydroxy-5-ene steroid dehydrogenase;
                     progesterone reductase; 3-beta-hydroxy-Delta(5)-steroid
                     dehydrogenase; 3 beta-HSD type II; delta 5-delta
                     4-isomerase type II; 3 beta-hydroxysteroid dehydrogenase
                     type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type
                     II; 3-beta-HSD II; 3 beta-hydroxysteroid
                     dehydrogenase/Delta 5-->4-isomerase type II; 3-beta-HSD
                     adrenal and gonadal type"
                     /codon_start=1
                     /product="3 beta-hydroxysteroid dehydrogenase/Delta
                     5-->4-isomerase type 2"
                     /protein_id="NP_000189.1"
                     /db_xref="CCDS:CCDS902.1"
                     /db_xref="GeneID:3284"
                     /db_xref="HGNC:HGNC:5218"
                     /db_xref="MIM:613890"
                     /translation="MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREE
                     FSKLQNRTKLTVLEGDILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGT
                     QLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEK
                     AVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNP
                     VYVGNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDS
                     RWSLPLTLMYWIGFLLEVVSFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYK
                     PLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ"
     misc_feature    1001..1063
                     /gene="HSD3B2"
                     /gene_synonym="HSD3B; HSDB; SDR11E2"
                     /note="propagated from UniProtKB/Swiss-Prot (P26439.2);
                     transmembrane region"
     regulatory      1649..1654
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD3B2"
                     /gene_synonym="HSD3B; HSDB; SDR11E2"
                     /note="hexamer: AATAAA"
     polyA_site      1675
                     /gene="HSD3B2"
                     /gene_synonym="HSD3B; HSDB; SDR11E2"
                     /note="major polyA site"
ORIGIN
        1 gaggcagtaa ggacttggac tcctctgtcc agcttttaac aatctaagtt acgccctctt
       61 ctgggtcacg ctagaatcag atctgctctc cagcatcttc tgtttcctgg caagtgtttc
      121 ctgctacttt ggattggcca cgatgggctg gagctgcctt gtgacaggag caggagggct
      181 tctgggtcag aggatcgtcc gcctgttggt ggaagagaag gaactgaagg agatcagggc
      241 cttggacaag gccttcagac cagaattgag agaggaattt tctaagctcc agaacaggac
      301 caagctgact gtacttgaag gagacattct ggatgagcca ttcctgaaaa gagcctgcca
      361 ggacgtctcg gtcgtcatcc acaccgcctg tatcattgat gtctttggtg tcactcacag
      421 agagtccatc atgaatgtca atgtgaaagg tacccagcta ctgttggagg cctgtgtcca
      481 agccagtgtg ccagtcttca tctacaccag tagcatagag gtagccgggc ccaactccta
      541 caaggaaatc atccagaacg gccacgaaga agagcctctg gaaaacacat ggcccactcc
      601 atacccgtac agcaaaaagc ttgctgagaa ggctgtgctg gcggctaatg ggtggaatct
      661 aaaaaatggt gataccttgt acacttgtgc gttaagaccc acatatatct atggggaagg
      721 aggcccattc ctttctgcca gtataaatga ggccctgaac aacaatggga tcctgtcaag
      781 tgttggaaag ttctctacag tcaacccagt ctatgttggc aacgtggcct gggcccacat
      841 tctggccttg agggctctgc gggaccccaa gaaggcccca agtgtccgag gtcaattcta
      901 ttacatctca gatgacacgc ctcaccaaag ctatgataac cttaattaca tcctgagcaa
      961 agagtttggc ctccgccttg attccagatg gagccttcct ttaaccctga tgtactggat
     1021 tggcttcctg ctggaagtag tgagcttcct actcagccca atttactcct atcaaccccc
     1081 cttcaaccgc cacacagtca cattatcaaa tagtgtgttc accttctctt acaagaaggc
     1141 tcagcgagat ctggcgtata agccactcta cagctgggag gaagccaagc agaaaaccgt
     1201 ggagtgggtt ggttcccttg tggaccggca caaggagacc ctgaagtcca agactcagtg
     1261 atttaaggat gacagagatg tgcatgtggg tattgttagg aaatgtcatc aaactccacc
     1321 cacctggctt catacagaag gcaacagggg cacaagccca ggtcctgctg cctctctttc
     1381 acacaatgcc caacttactg tcttcttcat gtcatcaaaa tctgcacagt cactggccca
     1441 accagaactt tctgtcctaa tcatacacca gaagacaaac aatatgattt gctgttacca
     1501 aatctcagtg gctgattctg aacaattgtg gtctctctta acttgaggtt ctcttttgac
     1561 taatagagct ccatttcccc tcttaaatga gaaagcattt cttttctctt taatctccta
     1621 ttccttcaca cagttcaaca taaagagcaa taaatgtttt aatgcttaac atgga
//
LOCUS       NM_000199               2705 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), transcript
            variant 1, mRNA.
ACCESSION   NM_000199
VERSION     NM_000199.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2705)
  AUTHORS   Yi F, Hong X, Kumar AB, Zong C, Boons GJ, Scott CR, Turecek F,
            Robinson BH and Gelb MH.
  TITLE     Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in
            dried blood spots (DBS) by tandem mass spectrometry
  JOURNAL   Mol Genet Metab 125 (1-2), 59-63 (2018)
   PUBMED   30006231
  REMARK    GeneRIF: Sulfamidase activity in 238 random newborns was well
            elevated compared to the range of activities measured in dried blood
            spots from 8 patients previously confirmed to have
            mucopolysaccharidosis III-A.
REFERENCE   2  (bases 1 to 2705)
  AUTHORS   Truxal KV, Fu H, McCarty DM, McNally KA, Kunkler KL, Zumberge NA,
            Martin L, Aylward SC, Alfano LN, Berry KM, Lowes LP, Corridore M,
            McKee C, McBride KL and Flanigan KM.
  TITLE     A prospective one-year natural history study of
            mucopolysaccharidosis types IIIA and IIIB: Implications for clinical
            trial design
  JOURNAL   Mol Genet Metab 119 (3), 239-248 (2016)
   PUBMED   27590925
  REMARK    GeneRIF: CSF enzyme activity levels for either SGSH (in MPS IIIA
            subjects) or NAGLU (in MPS IIIB) significantly differed from normal
            controls. Several other behavioral or functional measures were found
            to be uninformative in this population, including timed functional
            motor tests.
REFERENCE   3  (bases 1 to 2705)
  AUTHORS   Wilkin J, Kerr NC, Byrd KW, Ward JC and Iannaccone A.
  TITLE     Characterization of a Case of Pigmentary Retinopathy in Sanfilippo
            Syndrome Type IIIA Associated with Compound Heterozygous Mutations
            in the SGSH Gene
  JOURNAL   Ophthalmic Genet 37 (2), 217-227 (2016)
   PUBMED   26331342
  REMARK    GeneRIF: We have identified ocular features of a patient with
            Sanfilippo syndrome type IIIA harboring a novel SGHS mutation that
            were not previously known to occur in this disease - namely, a
            progressive retinopathy with distinctive features, cystic macular
            changes responsive to carbonic anhydrase inhibitors, and complex
            electroretinographic abnormalities consistent with postreceptoral
            dysfunction.
REFERENCE   4  (bases 1 to 2705)
  AUTHORS   Duncan FJ, Naughton BJ, Zaraspe K, Murrey DA, Meadows AS, Clark KR,
            Newsom DE, White P, Fu H and McCarty DM.
  TITLE     Broad functional correction of molecular impairments by systemic
            delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice
  JOURNAL   Mol Ther 23 (4), 638-647 (2015)
   PUBMED   25592334
  REMARK    GeneRIF: results demonstrate that a single systemic scAAVrh74-hSGSH
            delivery mediated efficient restoration of SGSH activity and
            resulted in a near complete correction of MPS IIIA molecular
            pathology
REFERENCE   5  (bases 1 to 2705)
  AUTHORS   Sidhu NS, Schreiber K, Propper K, Becker S, Uson I, Sheldrick GM,
            Gartner J, Kratzner R and Steinfeld R.
  TITLE     Structure of sulfamidase provides insight into the molecular
            pathology of mucopolysaccharidosis IIIA
  JOURNAL   Acta Crystallogr D Biol Crystallogr 70 (Pt 5), 1321-1335 (2014)
   PUBMED   24816101
  REMARK    GeneRIF: The crystal structure of glycosylated sulfamidase provides
            insight into the diverse effects of pathogenic mutations on
            sulfamidase function in mucopolysaccharidosis type IIIA.
REFERENCE   6  (bases 1 to 2705)
  AUTHORS   Blanch L, Weber B, Guo XH, Scott HS and Hopwood JJ.
  TITLE     Molecular defects in Sanfilippo syndrome type A
  JOURNAL   Hum Mol Genet 6 (5), 787-791 (1997)
   PUBMED   9158154
REFERENCE   7  (bases 1 to 2705)
  AUTHORS   Karageorgos LE, Guo XH, Blanch L, Weber B, Anson DS, Scott HS and
            Hopwood JJ.
  TITLE     Structure and sequence of the human sulphamidase gene
  JOURNAL   DNA Res 3 (4), 269-271 (1996)
   PUBMED   8946167
REFERENCE   8  (bases 1 to 2705)
  AUTHORS   Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E,
            Sutherland GR, Morris CP and Hopwood JJ.
  TITLE     Cloning of the sulphamidase gene and identification of mutations in
            Sanfilippo A syndrome
  JOURNAL   Nat Genet 11 (4), 465-467 (1995)
   PUBMED   7493035
REFERENCE   9  (bases 1 to 2705)
  AUTHORS   Wagner,V.F. and Northrup,H.
  TITLE     Mucopolysaccharidosis Type III
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   31536183
REFERENCE   10  (bases 1 to 2705)
  AUTHORS   van de Kamp,J.J., Niermeijer,M.F., von Figura,K. and Giesberts,M.A.
  TITLE     Genetic heterogeneity and clinical variability in the Sanfilippo
            syndrome (types A, B, and C)
  JOURNAL   Clin Genet 20 (2), 152-160 (1981)
   PUBMED   6796310
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.229971.1, BC047318.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000326317.11/ ENSP00000314606.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC319407.1, U30894.1,
            BU685248.1 and BP198470.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000199.4.
            Summary: This gene encodes the enzyme sulfamidase; one of several
            enzymes involved in the lysosomal degradation of heparan sulfate.
            Mutations in this gene are associated with the lysosomal storage
            disease mucopolysaccaridosis IIIA, also known as Sanfilippo
            syndrome A, which results from impaired degradation of heparan
            sulfate. Transcripts of varying sizes have been reported but their
            biological validity has not been determined. [provided by RefSeq,
            Jun 2017].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2705
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..2705
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="N-sulfoglucosamine sulfohydrolase"
                     /db_xref="GeneID:6448"
                     /db_xref="HGNC:HGNC:10818"
                     /db_xref="MIM:605270"
     CDS             21..1529
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /EC_number="3.10.1.1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; heparan sulfate sulfatase; sulfoglucosamine sulfamidase;
                     sulphamidase; mucopolysaccharidosis type IIIA"
                     /codon_start=1
                     /product="N-sulphoglucosamine sulphohydrolase isoform 1
                     precursor"
                     /protein_id="NP_000190.1"
                     /db_xref="CCDS:CCDS11770.1"
                     /db_xref="GeneID:6448"
                     /db_xref="HGNC:HGNC:10818"
                     /db_xref="MIM:605270"
                     /translation="MSCPVPACCALLLVLGLCRARPRNALLLLADDGGFESGAYNNSAI
                     ATPHLDALARRSLLFRNAFTSVSSCSPSRASLLTGLPQHQNGMYGLHQDVHHFNSFDKV
                     RSLPLLLSQAGVRTGIIGKKHVGPETVYPFDFAYTEENGSVLQVGRNITRIKLLVRKFL
                     QTQDDRPFFLYVAFHDPHRCGHSQPQYGTFCEKFGNGESGMGRIPDWTPQAYDPLDVLV
                     PYFVPNTPAARADLAAQYTTVGRMDQGVGLVLQELRDAGVLNDTLVIFTSDNGIPFPSG
                     RTNLYWPGTAEPLLVSSPEHPKRWGQVSEAYVSLLDLTPTILDWFSIPYPSYAIFGSKT
                     IHLTGRSLLPALEAEPLWATVFGSQSHHEVTMSYPMRSVQHRHFRLVHNLNFKMPFPID
                     QDFYVSPTFQDLLNRTTAGQPTGWYKDLRHYYYRARWELYDRSRDPHETQNLATDPRFA
                     QLLEMLRDQLAKWQWETHDPWVCAPDGVLEEKLSPQCQPLHNEL"
     sig_peptide     21..80
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     81..1526
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /product="N-sulphoglucosamine sulphohydrolase.
                     /id=PRO_0000033433"
                     /note="propagated from UniProtKB/Swiss-Prot (P51688.1)"
     misc_feature    141..143
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:24816101,
                     ECO:0007744|PDB:4MHX, ECO:0007744|PDB:4MIV; propagated from
                     UniProtKB/Swiss-Prot (P51688.1); glycosylation site"
     misc_feature    444..446
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51688.1); glycosylation site"
     misc_feature    471..473
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:24816101,
                     ECO:0007744|PDB:4MHX, ECO:0007744|PDB:4MIV; propagated from
                     UniProtKB/Swiss-Prot (P51688.1); glycosylation site"
     misc_feature    810..812
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:24816101, ECO:0007744|PDB:4MHX,
                     ECO:0007744|PDB:4MIV; propagated from UniProtKB/Swiss-Prot
                     (P51688.1); glycosylation site"
     misc_feature    1257..1259
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:24816101, ECO:0007744|PDB:4MHX,
                     ECO:0007744|PDB:4MIV; propagated from UniProtKB/Swiss-Prot
                     (P51688.1); glycosylation site"
     regulatory      2672..2677
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="hexamer: AGTAAA"
     regulatory      2677..2682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="hexamer: AATATA"
     polyA_site      2691
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="major polyA site"
     polyA_site      2705
                     /gene="SGSH"
                     /gene_synonym="HSS; MPS3A; SFMD"
                     /note="major polyA site"
ORIGIN
        1 gagtccgagc cgccgccgcc atgagctgcc ccgtgcccgc ctgctgcgcg ctgctgctag
       61 tcctggggct ctgccgggcg cgtccccgga acgcactgct gctcctcgcg gatgacggag
      121 gctttgagag tggcgcgtac aacaacagcg ccatcgccac cccgcacctg gacgccttgg
      181 cccgccgcag cctcctcttt cgcaatgcct tcacctcggt cagcagctgc tctcccagcc
      241 gcgccagcct cctcactggc ctgccccagc atcagaatgg gatgtacggg ctgcaccagg
      301 acgtgcacca cttcaactcc ttcgacaagg tgcggagcct gccgctgctg ctcagccaag
      361 ctggtgtgcg cacaggcatc atcgggaaga agcacgtggg gccggagacc gtgtacccgt
      421 ttgactttgc gtacacggag gagaatggct ccgtcctcca ggtggggcgg aacatcacta
      481 gaattaagct gctcgtccgg aaattcctgc agactcagga tgaccggcct ttcttcctct
      541 acgtcgcctt ccacgacccc caccgctgtg ggcactccca gccccagtac ggaaccttct
      601 gtgagaagtt tggcaacgga gagagcggca tgggtcgtat cccagactgg accccccagg
      661 cctacgaccc actggacgtg ctggtgcctt acttcgtccc caacaccccg gcagcccgag
      721 ccgacctggc cgctcagtac accaccgtcg gccgcatgga ccaaggagtt ggactggtgc
      781 tccaggagct gcgtgacgcc ggtgtcctga acgacacact ggtgatcttc acgtccgaca
      841 acgggatccc cttccccagc ggcaggacca acctgtactg gccgggcact gctgaaccct
      901 tactggtgtc atccccggag cacccaaaac gctggggcca agtcagcgag gcctacgtga
      961 gcctcctaga cctcacgccc accatcttgg attggttctc gatcccgtac cccagctacg
     1021 ccatctttgg ctcgaagacc atccacctca ctggccggtc cctcctgccg gcgctggagg
     1081 ccgagcccct ctgggccacc gtctttggca gccagagcca ccacgaggtc accatgtcct
     1141 accccatgcg ctccgtgcag caccggcact tccgcctcgt gcacaacctc aacttcaaga
     1201 tgccctttcc catcgaccag gacttctacg tctcacccac cttccaggac ctcctgaacc
     1261 gcaccacagc tggtcagccc acgggctggt acaaggacct ccgtcattac tactaccggg
     1321 cgcgctggga gctctacgac cggagccggg acccccacga gacccagaac ctggccaccg
     1381 acccgcgctt tgctcagctt ctggagatgc ttcgggacca gctggccaag tggcagtggg
     1441 agacccacga cccctgggtg tgcgcccccg acggcgtcct ggaggagaag ctctctcccc
     1501 agtgccagcc cctccacaat gagctgtgac catcccagga ggcctgtgca cacatcccag
     1561 gcatgtccca gacacatccc acacgtgtcc gtgtggccgg ccagcctggg gagtagtggc
     1621 aacagccctt ccgtccacac tcccatccaa ggagggttct tccttcctgt ggggtcactc
     1681 ttgccattgc ctggaggggg accagagcat gtgaccagag catgtgccca gcccctccac
     1741 caccaggggc actgccgtca tggcagggga cacagttgtc cttgtgtctg aaccatgtcc
     1801 cagcacggga attctagaca tacgtggtct gcggacaggg cagcgccccc agcccatgac
     1861 aagggagtct tgttttctgg cttggtttgg ggacctgcaa atgggaggcc tgaggccctc
     1921 ttcaggcttt ggcagccaca gatacttctg aacccttcac agagagcagg caggggcttc
     1981 ggtgccgcgt gggcagtacg caggtcccac cgacactcac ctgggagcac ggcgcctggc
     2041 tcttaccagc gtctggccta gaggaagcct ttgagcgacc tttgggcagg tttctgcttc
     2101 ttctgttttg ccccatggtc aagtccctgt tccccaggca ggtttcagct gattggcagc
     2161 aggctccctg agtgatgagc ttgaacctgt ggtgtttctg ggcagaagct tatctttttt
     2221 gagagtgtcc gaagatgaag gcatggcgat gcccgtcctc tggcttgggt taattcttcg
     2281 gtgacactgg cattgctggg tggtgatgcc cgtcctctgg cttgggttaa ttcttcggtg
     2341 acactggcgt tgctgggtgg caatgcccat cctctgcctt gggttaattc ttcggtgaca
     2401 ctggcgttgc tgggtggcga tgcccgtcct ctggcttggg ttaattcttg gatgacgtcg
     2461 gcgttgctgg gagaatgtgc cgttcctgcc ctgcctccac ccacctcggg agcagaagcc
     2521 cggcctggac acccctcggc ctggacaccc ctcgaaggag agggcgcttc cttgagtagg
     2581 tgggctcccc ttgcccttcc ctccctatca ctccatactg gggtgggctg gaggaggcca
     2641 caggccagct attgtaaaag ctttttattt tagtaaaata tacagaagtt ctttttctga
     2701 actca
//
LOCUS       NM_000200                532 bp    mRNA    linear   PRI 22-MAR-2023
DEFINITION  Homo sapiens histatin 3 (HTN3), mRNA.
ACCESSION   NM_000200
VERSION     NM_000200.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 532)
  AUTHORS   Stewart LJ, Hong Y, Holmes IR, Firth SJ, Ahmed Y, Quinn J, Santos Y,
            Cobb SL, Jakubovics NS and Djoko KY.
  TITLE     Salivary Antimicrobial Peptide Histatin-5 Does Not Display
            Zn(II)-Dependent or -Independent Activity against Streptococci
  JOURNAL   ACS Infect Dis 9 (3), 631-642 (2023)
   PUBMED   36826226
  REMARK    GeneRIF: Salivary Antimicrobial Peptide Histatin-5 Does Not Display
            Zn(II)-Dependent or -Independent Activity against Streptococci.
REFERENCE   2  (bases 1 to 532)
  AUTHORS   Wongpanuwich W, Yodsanga S, Chaisuparat R and Amornphimoltham P.
  TITLE     Association Between PD-L1 and Histatin1, 3 Expression in Advanced
            Head and Neck Squamous Cell Carcinoma
  JOURNAL   Anticancer Res 42 (5), 2689-2699 (2022)
   PUBMED   35489730
  REMARK    GeneRIF: Association Between PD-L1 and Histatin1, 3 Expression in
            Advanced Head and Neck Squamous Cell Carcinoma.
REFERENCE   3  (bases 1 to 532)
  AUTHORS   Moghaddam-Taaheri P, Leissa JA, Eppler HB, Jewell CM and Karlsson
            AJ.
  TITLE     Histatin 5 variant reduces Candida albicans biofilm viability and
            inhibits biofilm formation
  JOURNAL   Fungal Genet Biol 149, 103529 (2021)
   PUBMED   33596477
  REMARK    GeneRIF: Histatin 5 variant reduces Candida albicans biofilm
            viability and inhibits biofilm formation.
REFERENCE   4  (bases 1 to 532)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 532)
  AUTHORS   Ma D, Sun W, Nazmi K, Veerman ECI, Bikker FJ, Jaspers RT, Bolscher
            JGM and Wu G.
  TITLE     Salivary Histatin 1 and 2 Are Targeted to Mitochondria and
            Endoplasmic Reticulum in Human Cells
  JOURNAL   Cells 9 (4), 795 (2020)
   PUBMED   32225006
  REMARK    GeneRIF: Salivary Histatin 1 and 2 Are Targeted to Mitochondria and
            Endoplasmic Reticulum in Human Cells. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 532)
  AUTHORS   Troxler RF, Offner GD, Xu T, Vanderspek JC and Oppenheim FG.
  TITLE     Structural relationship between human salivary histatins
  JOURNAL   J Dent Res 69 (1), 2-6 (1990)
   PUBMED   2303595
REFERENCE   7  (bases 1 to 532)
  AUTHORS   Sugiyama K, Ogino T and Ogata K.
  TITLE     Rapid purification and characterization of histatins (histidine-rich
            polypeptides) from human whole saliva
  JOURNAL   Arch Oral Biol 35 (6), 415-419 (1990)
   PUBMED   2372245
REFERENCE   8  (bases 1 to 532)
  AUTHORS   vanderSpek JC, Offner GD, Troxler RF and Oppenheim FG.
  TITLE     Molecular cloning of human submandibular histatins
  JOURNAL   Arch Oral Biol 35 (2), 137-143 (1990)
   PUBMED   2344289
REFERENCE   9  (bases 1 to 532)
  AUTHORS   vanderSpek JC, Wyandt HE, Skare JC, Milunsky A, Oppenheim FG and
            Troxler RF.
  TITLE     Localization of the genes for histatins to human chromosome 4q13 and
            tissue distribution of the mRNAs
  JOURNAL   Am J Hum Genet 45 (3), 381-387 (1989)
   PUBMED   2773933
REFERENCE   10  (bases 1 to 532)
  AUTHORS   Sabatini LM and Azen EA.
  TITLE     Histatins, a family of salivary histidine-rich proteins, are encoded
            by at least two loci (HIS1 and HIS2)
  JOURNAL   Biochem Biophys Res Commun 160 (2), 495-502 (1989)
   PUBMED   2719677
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BP332860.1, BP333327.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA2142853 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000673563.1/ ENSP00000500623.1
            Protein has antimicrobial activity :: PMID: 2303595
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC063956.7.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 12, 2019 this sequence version replaced NM_000200.2.
            Summary: This gene encodes a member of the histatin family of
            small, histidine-rich, cationic proteins. They function as
            antimicrobial peptides and are important components of the innate
            immune system. Histatins are found in saliva and exhibit
            antibacterial, antifungal activities and function in wound healing.
            [provided by RefSeq, Sep 2014].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..532
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     gene            1..532
                     /gene="HTN3"
                     /gene_synonym="HIS2; HTN2; HTN5; PB"
                     /note="histatin 3"
                     /db_xref="GeneID:3347"
                     /db_xref="HGNC:HGNC:5284"
                     /db_xref="MIM:142702"
     CDS             72..227
                     /gene="HTN3"
                     /gene_synonym="HIS2; HTN2; HTN5; PB"
                     /note="histidine-rich protein 3; basic histidine-rich
                     protein; histatin-6; histatin-5; histatin-4; histatin-9;
                     histatin-7; histatin-8"
                     /codon_start=1
                     /product="histatin-3 precursor"
                     /protein_id="NP_000191.1"
                     /db_xref="CCDS:CCDS33999.1"
                     /db_xref="GeneID:3347"
                     /db_xref="HGNC:HGNC:5284"
                     /db_xref="MIM:142702"
                     /translation="MKFFVFALILALMLSMTGADSHAKRHHGYKRKFHEKHHSHRGYRS
                     NYLYDN"
     sig_peptide     72..128
                     /gene="HTN3"
                     /gene_synonym="HIS2; HTN2; HTN5; PB"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
ORIGIN
        1 atctcttgag acttcacttc agcttcactg acttctggat tctcctcttg agtaaaagga
       61 ctcagccaac tatgaagttt tttgtttttg ctttaatctt ggctctcatg ctttccatga
      121 ctggagctga ttcacatgca aagagacatc atgggtataa aagaaaattc catgaaaagc
      181 atcattcaca tcgaggctat agatcaaatt atctgtatga caattgatat cttcagtaat
      241 cacggggcat gattatggag gtttgactgg caaattcgct ttggactcgt gtattctcat
      301 ttgtcatacc gcatcacact accactgctt tttgaagaat tatcataagg caatgcagaa
      361 taaaagaaat accatgattt agtgaattct gtgtttcagg atacttccct tcctaattat
      421 catttgatta gatacttgca atttaaatgt taagctgttt tcactgctgt ttctgagtaa
      481 tagaaattca ttcctctcca aaagcaataa aattcaagca cattattatg tg
//
LOCUS       NM_000201               2967 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.
ACCESSION   NM_000201
VERSION     NM_000201.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2967)
  AUTHORS   Mezue K and Driggin E.
  TITLE     Genetic Variation in Intercellular Adhesion Molecule-1 (ICAM-1) and
            Diastolic Heart Failure in the Black Population in the United States
  JOURNAL   J Card Fail 29 (8), 1173-1174 (2023)
   PUBMED   37062471
  REMARK    GeneRIF: Genetic Variation in Intercellular Adhesion Molecule-1
            (ICAM-1) and Diastolic Heart Failure in the Black Population in the
            United States.
REFERENCE   2  (bases 1 to 2967)
  AUTHORS   Horozoglu C, Bal G, Kabadayi B, Hakan MT, Sonmez D, Nacarkahya G,
            Verim A and Yaylim I.
  TITLE     lncRNA NORAD, soluble ICAM1 and their correlations may be related to
            the regulation of the tumor immune microenvironment in laryngeal
            squamous cell carcinoma (LSCC)
  JOURNAL   Pathol Res Pract 246, 154494 (2023)
   PUBMED   37172522
  REMARK    GeneRIF: lncRNA NORAD, soluble ICAM1 and their correlations may be
            related to the regulation of the tumor immune microenvironment in
            laryngeal squamous cell carcinoma (LSCC).
REFERENCE   3  (bases 1 to 2967)
  AUTHORS   Wu CY, Peng PW, Renn TY, Lee CJ, Chang TM, Wei AI and Liu JF.
  TITLE     CX3CL1 induces cell migration and invasion through ICAM-1 expression
            in oral squamous cell carcinoma cells
  JOURNAL   J Cell Mol Med 27 (11), 1509-1522 (2023)
   PUBMED   37082943
  REMARK    GeneRIF: CX3CL1 induces cell migration and invasion through ICAM-1
            expression in oral squamous cell carcinoma cells.
REFERENCE   4  (bases 1 to 2967)
  AUTHORS   Park JY, Park HM, Kim S, Jeon KB, Lim CM, Hong JT and Yoon DY.
  TITLE     Human IL-32theta;A94V mutant attenuates monocyte-endothelial
            adhesion by suppressing the expression of ICAM-1 and VCAM-1 via
            binding to cell surface receptor integrin alphaVbeta3 and
            alphaVbeta6 in TNF-alpha-stimulated HUVECs
  JOURNAL   Front Immunol 14, 1160301 (2023)
   PUBMED   37228610
  REMARK    GeneRIF: Human IL-32theta;A94V mutant attenuates
            monocyte-endothelial adhesion by suppressing the expression of
            ICAM-1 and VCAM-1 via binding to cell surface receptor integrin
            alphaVbeta3 and alphaVbeta6 in TNF-alpha-stimulated HUVECs.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2967)
  AUTHORS   Relph K, Arif M, Pandha H, Annels N and Simpson GR.
  TITLE     Analysis of ICAM-1 Expression on Bladder Carcinoma Cell Lines and
            Infectivity and Oncolysis by Coxsackie Virus A21
  JOURNAL   Methods Mol Biol 2684, 319-327 (2023)
   PUBMED   37410244
  REMARK    GeneRIF: Analysis of ICAM-1 Expression on Bladder Carcinoma Cell
            Lines and Infectivity and Oncolysis by Coxsackie Virus A21.
REFERENCE   6  (bases 1 to 2967)
  AUTHORS   Fawcett J, Holness CL, Needham LA, Turley H, Gatter KC, Mason DY and
            Simmons DL.
  TITLE     Molecular cloning of ICAM-3, a third ligand for LFA-1,
            constitutively expressed on resting leukocytes
  JOURNAL   Nature 360 (6403), 481-484 (1992)
   PUBMED   1448173
REFERENCE   7  (bases 1 to 2967)
  AUTHORS   Viac J, Chardonnet Y, Euvrard S and Schmitt D.
  TITLE     Epidermotropism of T cells correlates with intercellular adhesion
            molecule (ICAM1) expression in human papillomavirus (HPV)-induced
            lesions
  JOURNAL   J Pathol 168 (3), 301-306 (1992)
   PUBMED   1361527
REFERENCE   8  (bases 1 to 2967)
  AUTHORS   Rossler K, Neuchrist C, Kitz K, Scheiner O, Kraft D and Lassmann H.
  TITLE     Expression of leucocyte adhesion molecules at the human blood-brain
            barrier (BBB)
  JOURNAL   J Neurosci Res 31 (2), 365-374 (1992)
   PUBMED   1374132
REFERENCE   9  (bases 1 to 2967)
  AUTHORS   Denkers IA, de Jong-de Boer TJ, Beelen RH, Ossenkoppele GJ and
            Langenhuijsen MM.
  TITLE     VLA molecule expression may be involved in the release of acute
            myeloid leukaemic cells from the bone marrow
  JOURNAL   Leuk Res 16 (5), 469-474 (1992)
   PUBMED   1625472
REFERENCE   10  (bases 1 to 2967)
  AUTHORS   Degitz K, Li LJ and Caughman SW.
  TITLE     Cloning and characterization of the 5'-transcriptional regulatory
            region of the human intercellular adhesion molecule 1 gene
  JOURNAL   J Biol Chem 266 (21), 14024-14030 (1991)
   PUBMED   1677359
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC015969.2, GQ901042.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000264832.8/ ENSP00000264832.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC015969.2 and BG149901.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000201.2.
            Summary: This gene encodes a cell surface glycoprotein which is
            typically expressed on endothelial cells and cells of the immune
            system. It binds to integrins of type CD11a / CD18, or CD11b / CD18
            and is also exploited by Rhinovirus as a receptor. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2967
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..2967
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /note="intercellular adhesion molecule 1"
                     /db_xref="GeneID:3383"
                     /db_xref="HGNC:HGNC:5344"
                     /db_xref="MIM:147840"
     CDS             41..1639
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /note="intercellular adhesion molecule 1 (CD54), human
                     rhinovirus receptor; cell surface glycoprotein P3.58;
                     ICAM-1; major group rhinovirus receptor; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="intercellular adhesion molecule 1 precursor"
                     /protein_id="NP_000192.2"
                     /db_xref="CCDS:CCDS12231.1"
                     /db_xref="GeneID:3383"
                     /db_xref="HGNC:HGNC:5344"
                     /db_xref="MIM:147840"
                     /translation="MAPSSPRPALPALLVLLGALFPGPGNAQTSVSPSKVILPRGGSVL
                     VTCSTSCDQPKLLGIETPLPKKELLLPGNNRKVYELSNVQEDSQPMCYSNCPDGQSTAK
                     TFLTVYWTPERVELAPLPSWQPVGKNLTLRCQVEGGAPRANLTVVLLRGEKELKREPAV
                     GEPAEVTTTVLVRRDHHGANFSCRTELDLRPQGLELFENTSAPYQLQTFVLPATPPQLV
                     SPRVLEVDTQGTVVCSLDGLFPVSEAQVHLALGDQRLNPTVTYGNDSFSAKASVSVTAE
                     DEGTQRLTCAVILGNQSQETLQTVTIYSFPAPNVILTKPEVSEGTEVTVKCEAHPRAKV
                     TLNGVPAQPLGPRAQLLLKATPEDNGRSFSCSATLEVAGQLIHKNQTRELRVLYGPRLD
                     ERDCPGNWTWPENSQQTPMCQAWGNPLPELKCLKDGTFPLPIGESVTVTRDLEGTYLCR
                     ARSTQGEVTRKVTVNVLSPRYEIVIITVVAAAVIMGTAGLSTYLYNRQRKIKKYRLQQA
                     QKGTPMKPNTQATPP"
     sig_peptide     41..121
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     122..1636
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /product="intercellular adhesion molecule 1"
     misc_feature    428..430
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12526797,
                     ECO:0000269|PubMed:9539702; propagated from
                     UniProtKB/Swiss-Prot (P05362.2); glycosylation site"
     misc_feature    473..475
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:12526797,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19349973,
                     ECO:0000269|PubMed:9539702; propagated from
                     UniProtKB/Swiss-Prot (P05362.2); glycosylation site"
     misc_feature    494..502
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /note="propagated from UniProtKB/Swiss-Prot (P05362.2);
                     Region: Cell attachment site, atypical.
                     /evidence=ECO:0000255"
     misc_feature    587..589
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12526797,
                     ECO:0000269|PubMed:9539702; propagated from
                     UniProtKB/Swiss-Prot (P05362.2); glycosylation site"
     misc_feature    644..646
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12526797,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:9539702,
                     ECO:0000269|PubMed:9539703; propagated from
                     UniProtKB/Swiss-Prot (P05362.2); glycosylation site"
     misc_feature    839..841
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15099525,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P05362.2); glycosylation site"
     misc_feature    926..928
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15099525; propagated from
                     UniProtKB/Swiss-Prot (P05362.2); glycosylation site"
     misc_feature    1193..1195
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15099525; propagated from
                     UniProtKB/Swiss-Prot (P05362.2); glycosylation site"
     misc_feature    1256..1258
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P05362.2); glycosylation site"
     misc_feature    1481..1549
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /note="propagated from UniProtKB/Swiss-Prot (P05362.2);
                     transmembrane region"
     misc_feature    1601..1603
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P05362.2);
                     phosphorylation site"
     misc_feature    1628..1630
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P05362.2);
                     phosphorylation site"
     polyA_site      2167
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
     regulatory      2947..2952
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /note="hexamer: AATAAA"
     polyA_site      2967
                     /gene="ICAM1"
                     /gene_synonym="BB2; CD54; P3.58"
                     /note="major polyA site"
ORIGIN
        1 gagctcctct gctactcaga gttgcaacct cagcctcgct atggctccca gcagcccccg
       61 gcccgcgctg cccgcactcc tggtcctgct cggggctctg ttcccaggac ctggcaatgc
      121 ccagacatct gtgtccccct caaaagtcat cctgccccgg ggaggctccg tgctggtgac
      181 atgcagcacc tcctgtgacc agcccaagtt gttgggcata gagaccccgt tgcctaaaaa
      241 ggagttgctc ctgcctggga acaaccggaa ggtgtatgaa ctgagcaatg tgcaagaaga
      301 tagccaacca atgtgctatt caaactgccc tgatgggcag tcaacagcta aaaccttcct
      361 caccgtgtac tggactccag aacgggtgga actggcaccc ctcccctctt ggcagccagt
      421 gggcaagaac cttaccctac gctgccaggt ggagggtggg gcaccccggg ccaacctcac
      481 cgtggtgctg ctccgtgggg agaaggagct gaaacgggag ccagctgtgg gggagcccgc
      541 tgaggtcacg accacggtgc tggtgaggag agatcaccat ggagccaatt tctcgtgccg
      601 cactgaactg gacctgcggc cccaagggct ggagctgttt gagaacacct cggcccccta
      661 ccagctccag acctttgtcc tgccagcgac tcccccacaa cttgtcagcc cccgggtcct
      721 agaggtggac acgcagggga ccgtggtctg ttccctggac gggctgttcc cagtctcgga
      781 ggcccaggtc cacctggcac tgggggacca gaggttgaac cccacagtca cctatggcaa
      841 cgactccttc tcggccaagg cctcagtcag tgtgaccgca gaggacgagg gcacccagcg
      901 gctgacgtgt gcagtaatac tggggaacca gagccaggag acactgcaga cagtgaccat
      961 ctacagcttt ccggcgccca acgtgattct gacgaagcca gaggtctcag aagggaccga
     1021 ggtgacagtg aagtgtgagg cccaccctag agccaaggtg acgctgaatg gggttccagc
     1081 ccagccactg ggcccgaggg cccagctcct gctgaaggcc accccagagg acaacgggcg
     1141 cagcttctcc tgctctgcaa ccctggaggt ggccggccag cttatacaca agaaccagac
     1201 ccgggagctt cgtgtcctgt atggcccccg actggacgag agggattgtc cgggaaactg
     1261 gacgtggcca gaaaattccc agcagactcc aatgtgccag gcttggggga acccattgcc
     1321 cgagctcaag tgtctaaagg atggcacttt cccactgccc atcggggaat cagtgactgt
     1381 cactcgagat cttgagggca cctacctctg tcgggccagg agcactcaag gggaggtcac
     1441 ccgcaaggtg accgtgaatg tgctctcccc ccggtatgag attgtcatca tcactgtggt
     1501 agcagccgca gtcataatgg gcactgcagg cctcagcacg tacctctata accgccagcg
     1561 gaagatcaag aaatacagac tacaacaggc ccaaaaaggg acccccatga aaccgaacac
     1621 acaagccacg cctccctgaa cctatcccgg gacagggcct cttcctcggc cttcccatat
     1681 tggtggcagt ggtgccacac tgaacagagt ggaagacata tgccatgcag ctacacctac
     1741 cggccctggg acgccggagg acagggcatt gtcctcagtc agatacaaca gcatttgggg
     1801 ccatggtacc tgcacaccta aaacactagg ccacgcatct gatctgtagt cacatgacta
     1861 agccaagagg aaggagcaag actcaagaca tgattgatgg atgttaaagt ctagcctgat
     1921 gagaggggaa gtggtggggg agacatagcc ccaccatgag gacatacaac tgggaaatac
     1981 tgaaacttgc tgcctattgg gtatgctgag gccccacaga cttacagaag aagtggccct
     2041 ccatagacat gtgtagcatc aaaacacaaa ggcccacact tcctgacgga tgccagcttg
     2101 ggcactgctg tctactgacc ccaacccttg atgatatgta tttattcatt tgttatttta
     2161 ccagctattt attgagtgtc ttttatgtag gctaaatgaa cataggtctc tggcctcacg
     2221 gagctcccag tcctaatcac attcaaggtc accaggtaca gttgtacagg ttgtacactg
     2281 caggagagtg cctggcaaaa agatcaaatg gggctgggac ttctcattgg ccaacctgcc
     2341 tttccccaga aggagtgatt tttctatcgg cacaaaagca ctatatggac tggtaatggt
     2401 tacaggttca gagattaccc agtgaggcct tattcctccc ttccccccaa aactgacacc
     2461 tttgttagcc acctccccac ccacatacat ttctgccagt gttcacaatg acactcagcg
     2521 gtcatgtctg gacatgagtg cccagggaat atgcccaagc tatgccttgt cctcttgtcc
     2581 tgtttgcatt tcactgggag cttgcactat gcagctccag tttcctgcag tgatcagggt
     2641 cctgcaagca gtggggaagg gggccaaggt attggaggac tccctcccag ctttggaagc
     2701 ctcatccgcg tgtgtgtgtg tgtgtatgtg tagacaagct ctcgctctgt cacccaggct
     2761 ggagtgcagt ggtgcaatca tggttcactg cagtcttgac cttttgggct caagtgatcc
     2821 tcccacctca gcctcctgag tagctgggac cataggctca caacaccaca cctggcaaat
     2881 ttgatttttt ttttttttcc agagacgggg tctcgcaaca ttgcccagac ttcctttgtg
     2941 ttagttaata aagctttctc aactgcc
//
LOCUS       NM_000202               7580 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1,
            mRNA.
ACCESSION   NM_000202
VERSION     NM_000202.8
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7580)
  AUTHORS   Ramirez-Hernandez MA, Figuera LE, Rizo-de la Torre LC,
            Mendoza-Ruvalcaba MTMSC, Arnaud-Lopez L, Garcia-Ortiz JE,
            Zuniga-Gonzalez GM, Puebla-Perez AM, Gomez-Meda BC and
            Gallegos-Arreola MP.
  TITLE     Mutational spectrum of the iduronate-2-sulfatase gene in Mexican
            patients with Hunter syndrome
  JOURNAL   Eur Rev Med Pharmacol Sci 26 (14), 5115-5127 (2022)
   PUBMED   35916809
  REMARK    GeneRIF: Mutational spectrum of the iduronate-2-sulfatase gene in
            Mexican patients with Hunter syndrome.
REFERENCE   2  (bases 1 to 7580)
  AUTHORS   Zhao XY, Qiao GM and Liu F.
  TITLE     Identification and structure characterization of novel IDS variants
            causing mucopolysaccharidosis type II: A retrospective analysis of
            30 Chinese children
  JOURNAL   Clin Chim Acta 523, 386-394 (2021)
   PUBMED   34670126
  REMARK    GeneRIF: Identification and structure characterization of novel IDS
            variants causing mucopolysaccharidosis type II: A retrospective
            analysis of 30 Chinese children.
REFERENCE   3  (bases 1 to 7580)
  AUTHORS   Matsuhisa K and Imaizumi K.
  TITLE     Loss of Function of Mutant IDS Due to Endoplasmic
            Reticulum-Associated Degradation: New Therapeutic Opportunities for
            Mucopolysaccharidosis Type II
  JOURNAL   Int J Mol Sci 22 (22), 12227 (2021)
   PUBMED   34830113
  REMARK    GeneRIF: Loss of Function of Mutant IDS Due to Endoplasmic
            Reticulum-Associated Degradation: New Therapeutic Opportunities for
            Mucopolysaccharidosis Type II. Review article Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 7580)
  AUTHORS   Jezela-Stanek A, Pokora P, Mlynek M, Smyk M, Ziemkiewicz K,
            Rozdzynska-Swiatkowska A and Tylki-Szymanska A.
  TITLE     Diverse clinical outcome of Hunter syndrome in patients with
            chromosomal aberration encompassing entire and partial IDS
            deletions: what is important for early diagnosis and counseling?
  JOURNAL   Clin Dysmorphol 30 (2), 76-82 (2021)
   PUBMED   33290290
  REMARK    GeneRIF: Diverse clinical outcome of Hunter syndrome in patients
            with chromosomal aberration encompassing entire and partial IDS
            deletions: what is important for early diagnosis and counseling?
REFERENCE   5  (bases 1 to 7580)
  AUTHORS   Scarpa,M.
  TITLE     Mucopolysaccharidosis Type II
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301451
REFERENCE   6  (bases 1 to 7580)
  AUTHORS   Crotty PL, Braun SE, Anderson RA and Whitley CB.
  TITLE     Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter
            syndrome (mucopolysaccharidosis type II) confirmed by in vitro
            mutagenesis and expression
  JOURNAL   Hum Mol Genet 1 (9), 755-757 (1992)
   PUBMED   1284597
REFERENCE   7  (bases 1 to 7580)
  AUTHORS   Beck M, Steglich C, Zabel B, Dahl N, Schwinger E, Hopwood JJ and Gal
            A.
  TITLE     Deletion of the Hunter gene and both DXS466 and DXS304 in a patient
            with mucopolysaccharidosis type II
  JOURNAL   Am J Med Genet 44 (1), 100-103 (1992)
   PUBMED   1355630
REFERENCE   8  (bases 1 to 7580)
  AUTHORS   Bunge S, Steglich C, Beck M, Rosenkranz W, Schwinger E, Hopwood JJ
            and Gal A.
  TITLE     Mutation analysis of the iduronate-2-sulfatase gene in patients with
            mucopolysaccharidosis type II (Hunter syndrome)
  JOURNAL   Hum Mol Genet 1 (5), 335-339 (1992)
   PUBMED   1303211
REFERENCE   9  (bases 1 to 7580)
  AUTHORS   Sukegawa K, Tomatsu S, Tamai K, Ikeda M, Sasaki T, Masue M, Fukuda
            S, Yamada Y and Orii T.
  TITLE     Intermediate form of mucopolysaccharidosis type II (Hunter disease):
            a C1327 to T substitution in the iduronate sulfatase gene
  JOURNAL   Biochem Biophys Res Commun 183 (2), 809-813 (1992)
   PUBMED   1550586
REFERENCE   10  (bases 1 to 7580)
  AUTHORS   Wilson PJ, Morris CP, Anson DS, Occhiodoro T, Bielicki J, Clements
            PR and Hopwood JJ.
  TITLE     Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone
            and analysis of patient DNA
  JOURNAL   Proc Natl Acad Sci U S A 87 (21), 8531-8535 (1990)
   PUBMED   2122463
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.154379.1,
            SRR1803612.252715.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000340855.11/ ENSP00000339801.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA325538.1, M58342.1,
            BY996633.1, AK055600.1, DA351886.1, CN303532.1, AK057191.1,
            AC233288.1, CK004173.1 and R46390.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000202.7.
            Summary: This gene encodes a member of the sulfatase family of
            proteins. The encoded preproprotein is proteolytically processed to
            generate two polypeptide chains. This enzyme is involved in the
            lysosomal degradation of heparan sulfate and dermatan sulfate.
            Mutations in this gene are associated with the X-linked lysosomal
            storage disease mucopolysaccharidosis type II, also known as Hunter
            syndrome. Alternative splicing results in multiple transcript
            variants, at least one of which encodes a preproprotein that is
            proteolytically processed. [provided by RefSeq, Jan 2016].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7580
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..7580
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
                     /note="iduronate 2-sulfatase"
                     /db_xref="GeneID:3423"
                     /db_xref="HGNC:HGNC:5389"
                     /db_xref="MIM:300823"
     misc_feature    146..148
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
                     /note="upstream in-frame stop codon"
     CDS             170..1822
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
                     /EC_number="3.1.6.13"
                     /note="isoform a preproprotein is encoded by transcript
                     variant 1; iduronate 2-sulfatase 42 kDa chain; iduronate
                     2-sulfatase 14 kDa chain; alpha-L-iduronate sulfate
                     sulfatase; idursulfase"
                     /codon_start=1
                     /product="iduronate 2-sulfatase isoform a preproprotein"
                     /protein_id="NP_000193.1"
                     /db_xref="CCDS:CCDS14685.1"
                     /db_xref="GeneID:3423"
                     /db_xref="HGNC:HGNC:5389"
                     /db_xref="MIM:300823"
                     /translation="MPPPRTGRGLLWLGLVLSSVCVALGSETQANSTTDALNVLLIIVD
                     DLRPSLGCYGDKLVRSPNIDQLASHSLLFQNAFAQQAVCAPSRVSFLTGRRPDTTRLYD
                     FNSYWRVHAGNFSTIPQYFKENGYVTMSVGKVFHPGISSNHTDDSPYSWSFPPYHPSSE
                     KYENTKTCRGPDGELHANLLCPVDVLDVPEGTLPDKQSTEQAIQLLEKMKTSASPFFLA
                     VGYHKPHIPFRYPKEFQKLYPLENITLAPDPEVPDGLPPVAYNPWMDIRQREDVQALNI
                     SVPYGPIPVDFQRKIRQSYFASVSYLDTQVGRLLSALDDLQLANSTIIAFTSDHGWALG
                     EHGEWAKYSNFDVATHVPLIFYVPGRTASLPEAGEKLFPYLDPFDSASQLMEPGRQSMD
                     LVELVSLFPTLAGLAGLQVPPRCPVPSFHVELCREGKNLLKHFRFRDLEEDPYLPGNPR
                     ELIAYSQYPRPSDIPQWNSDKPSLKDIKIMGYSIRTIDYRYTVWVGFNPDEFLANFSDI
                     HAGELYFVDSDPLQDHNMYNDSQGGDLFQLLMP"
     sig_peptide     170..244
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     269..1534
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
                     /product="Iduronate 2-sulfatase 42 kDa chain.
                     /id=PRO_0000033429"
                     /note="propagated from UniProtKB/Swiss-Prot (P22304.1)"
     misc_feature    512..514
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218, ECO:0000269|Ref.13,
                     ECO:0007744|PDB:5FQL; propagated from UniProtKB/Swiss-Prot
                     (P22304.1); glycosylation site"
     misc_feature    599..601
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|Ref.13, ECO:0007744|PDB:5FQL;
                     propagated from UniProtKB/Swiss-Prot (P22304.1);
                     glycosylation site"
     misc_feature    905..907
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|Ref.13, ECO:0007744|PDB:5FQL;
                     propagated from UniProtKB/Swiss-Prot (P22304.1);
                     glycosylation site"
     misc_feature    1007..1009
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|Ref.13, ECO:0007744|PDB:5FQL;
                     propagated from UniProtKB/Swiss-Prot (P22304.1);
                     glycosylation site"
     misc_feature    1142..1144
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|Ref.13, ECO:0007744|PDB:5FQL;
                     propagated from UniProtKB/Swiss-Prot (P22304.1);
                     glycosylation site"
     mat_peptide     1535..1819
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
                     /product="Iduronate 2-sulfatase 14 kDa chain.
                     /id=PRO_0000033430"
                     /note="propagated from UniProtKB/Swiss-Prot (P22304.1)"
     misc_feature    1706..1708
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|Ref.13, ECO:0007744|PDB:5FQL;
                     propagated from UniProtKB/Swiss-Prot (P22304.1);
                     glycosylation site"
     misc_feature    1778..1780
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|Ref.13, ECO:0007744|PDB:5FQL;
                     propagated from UniProtKB/Swiss-Prot (P22304.1);
                     glycosylation site"
     regulatory      5776..5781
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
                     /note="hexamer: AATAAA"
     polyA_site      5799
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
                     /note="major polyA site"
     regulatory      7558..7563
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
                     /note="hexamer: AATAAA"
     polyA_site      7580
                     /gene="IDS"
                     /gene_synonym="ID2S; MPS2; SIDS"
ORIGIN
        1 actcgcgctg cggccagcgc ccgggcctgc gggcccgggc ggcggctgtg ttgcgcagtc
       61 ttcatgggtt cccgacgagg aggtctctgt ggctgcggcg gcggctgcta actgcgccac
      121 ctgctgcagc ctgtccccgc cgctctgaag cggccgcgtc gaagccgaaa tgccgccacc
      181 ccggaccggc cgaggccttc tctggctggg tctggttctg agctccgtct gcgtcgccct
      241 cggatccgaa acgcaggcca actcgaccac agatgctctg aacgttcttc tcatcatcgt
      301 ggatgacctg cgcccctccc tgggctgtta tggggataag ctggtgaggt ccccaaatat
      361 tgaccaactg gcatcccaca gcctcctctt ccagaatgcc tttgcgcagc aagcagtgtg
      421 cgccccgagc cgcgtttctt tcctcactgg caggagacct gacaccaccc gcctgtacga
      481 cttcaactcc tactggaggg tgcacgctgg aaacttctcc accatccccc agtacttcaa
      541 ggagaatggc tatgtgacca tgtcggtggg aaaagtcttt caccctggga tatcttctaa
      601 ccataccgat gattctccgt atagctggtc ttttccacct tatcatcctt cctctgagaa
      661 gtatgaaaac actaagacat gtcgagggcc agatggagaa ctccatgcca acctgctttg
      721 ccctgtggat gtgctggatg ttcccgaggg caccttgcct gacaaacaga gcactgagca
      781 agccatacag ttgttggaaa agatgaaaac gtcagccagt cctttcttcc tggccgttgg
      841 gtatcataag ccacacatcc ccttcagata ccccaaggaa tttcagaagt tgtatccctt
      901 ggagaacatc accctggccc ccgatcccga ggtccctgat ggcctacccc ctgtggccta
      961 caacccctgg atggacatca ggcaacggga agacgtccaa gccttaaaca tcagtgtgcc
     1021 gtatggtcca attcctgtgg actttcagcg gaaaatccgc cagagctact ttgcctctgt
     1081 gtcatatttg gatacacagg tcggccgcct cttgagtgct ttggacgatc ttcagctggc
     1141 caacagcacc atcattgcat ttacctcgga tcatgggtgg gctctaggtg aacatggaga
     1201 atgggccaaa tacagcaatt ttgatgttgc tacccatgtt cccctgatat tctatgttcc
     1261 tggaaggacg gcttcacttc cggaggcagg cgagaagctt ttcccttacc tcgacccttt
     1321 tgattccgcc tcacagttga tggagccagg caggcaatcc atggaccttg tggaacttgt
     1381 gtctcttttt cccacgctgg ctggacttgc aggactgcag gttccacctc gctgccccgt
     1441 tccttcattt cacgttgagc tgtgcagaga aggcaagaac cttctgaagc attttcgatt
     1501 ccgtgacttg gaagaggatc cgtacctccc tggtaatccc cgtgaactga ttgcctatag
     1561 ccagtatccc cggccttcag acatccctca gtggaattct gacaagccga gtttaaaaga
     1621 tataaagatc atgggctatt ccatacgcac catagactat aggtatactg tgtgggttgg
     1681 cttcaatcct gatgaatttc tagctaactt ttctgacatc catgcagggg aactgtattt
     1741 tgtggattct gacccattgc aggatcacaa tatgtataat gattcccaag gtggagatct
     1801 tttccagttg ttgatgcctt gagttttgcc aaccatggat ggcaaatgtg atgtgctccc
     1861 ttccagctgg tgagaggagg agttagagct ggtcgttttg tgattaccca taatattgga
     1921 agcagcctga gggctagtta atccaaacat gcatcaacaa tttggcctga gaatatgtaa
     1981 cagccaaacc ttttcgttta gtctttatta aaatttataa ttggtaattg gaccagtttt
     2041 ttttttaatt tccctctttt taaaacagtt acggcttatt tactgaataa atacaaagca
     2101 aacaaactca agttatgtca tacctttgga tacgaagacc atacataata accaaacata
     2161 acattataca caaagaatac tttcattatt tgtggaattt agtgcatttc aaaaagtaat
     2221 catatatcaa actaggcacc acactaagtt cctgattatt ttgtttataa tttaataata
     2281 tatcttatga gccctatata ttcaaaatat tatgttaaca tgtaatccat gtttcttttt
     2341 caaatctaaa gttaaaaaaa aatagcagaa gccagtgtct taaagtctat cttttgtttc
     2401 taagaccatg ggatttcata atctcaagat aaaatatgta tgaagtaatt aatgtagaat
     2461 ttttacacca aataataaat aatgcttaat aaactagaga tatgagatgt gtaggaaatt
     2521 tggttaaact tttttcagat actttctggc ccaaataata atttgttagc aaataatatg
     2581 acccttgaac tcaatggcca tctattaaaa gactgttgtt cacactggaa aacatttaaa
     2641 gatgtgacta tatccatggg tggattgaat cactcaaaat atattagtat ccttctttag
     2701 ggatggttgg ttacagacat gtatttattc aggaggcaga aaatattcca ttttaattgc
     2761 ttattaaaga aaacattaaa ttctaaatta ttttgaggac tgtgaagact tttcattagt
     2821 gtaatattag gtcattgtca atctcccaga atgtagttct atattctcta aatatgaaag
     2881 tatccagaaa ggccagtggt agtaaaaagc ttagtgtata taatctcaaa agggatggaa
     2941 tatttacaac tcatatttat aacatgttga atcttctcag ttatcagtag tcatcagaag
     3001 tgtcaatagc tttctaaata aatattaaat atctactgtc ctgtagtgaa ggagtaattt
     3061 ttagtaattt tctctttaca aagtctccag tgtttccagg taaatatttg tgaaacaaaa
     3121 tacagcaaac tacattgtta cttcagtgta ttgttgccaa aaatgacaag atattatatt
     3181 aaaatcagta aattttagac agattttaaa aattaattag cctacaatag aggttatatg
     3241 gtaacacggt gatcttctaa gcagttaagt gactgactgt tctggcaaca acgacttctc
     3301 cgtgactgaa gggccctgtt catttcctga tcctgaagct cgtctctctt ttgagcctcc
     3361 gcttgctttg gtcgatggtt tccctcagct ttttctttgc tgttcttcat cctcgttgtt
     3421 gctgtcatca tgttcactgt ggcttttaca atacagcctg taaattcctt atgacatagt
     3481 tcagtgcatt tggctttatt gcctgctcca cagttcttta cctttacttg gcttagagaa
     3541 actgtatctt tgttgcttca tataaccttt ccccaacccc actaagctgg acataactta
     3601 ttagtggtcc tcccgtcact ttatttgtag aaatctctct ttcacatgag caggggttct
     3661 ttcatgtggt ttagctgaca gcagaactag tgattctaga cattttgcat ggccctcatt
     3721 cagtggctca caaacatgag ggagcatcag aactacttga ggggcttgtt aaaacccagt
     3781 gcgttagaag tcggatgcgg tggctcacac ctgtaatccc agcactttgg gaggcccagg
     3841 caggcggatc acttgaggtt aggagttcaa gaccagcctg gccaacatgg tgaaaccccg
     3901 tctctactaa aaatacaaaa gttagccggg tgtggtggtg catgcctgta atcccagctt
     3961 cttgggaggc caaggcacaa gaatcgcttg aaccaggaga cggaggtttc agtgaatgaa
     4021 gatcgtgcca ttgtattcca gcctcggcaa cacagcagga ctgtgatttt ctttggagac
     4081 tcctagattt tctgtggttt tgaactgaat ttgttggatg ttggcaagtg cctcttatga
     4141 gctgtttctt tatcctgcat ttgccccaca aagacttatc tggaggtgag caaagtatgt
     4201 ttggtagtga ggtcacaaag gcaatcagcc ccttcctccc cactcccatt gccatcttct
     4261 cagtccttct ccctttcttt ccaagtagtt tacccacccc tcctctttcc tcccctgtcc
     4321 ctaaaataat ccacgtgtct tcctaaaatc tctctttgat cctgtccttt gataacaccg
     4381 tcagtgccta ctactgggtc tagacagacc tctgttgagc agtcagagtc ttccctgact
     4441 ccacaatgcc cctttccttg gctgaccagt atgactactg gtccccacct ttcccttgcc
     4501 tatccctacc tccctcctac taggttgtcc catccctctc ttcacccatt cattcatgac
     4561 catttttcac taccaagctc cccccctccc gaaggaggct gaggtttttg tgactctcta
     4621 gactctattg tgggatggaa tgaacattgc taaagaatct tgtgttcgct ttactttaaa
     4681 aaggtatttt tttcctaatt ataaaactga tgtgtcagtt acggaaaaat tagaaatgca
     4741 gcacaaatac atgaatattt taccacaaaa ttgccatata atatcttgtc ttttttgggg
     4801 gtgtgaattt tttgcattgt tctggtcata ttctttatca tgtaatttat gttctttttt
     4861 actaagtatt atgtgtggtt attatagatt ttcacaaaga tatattgctg gtaatatatt
     4921 ttattgtgta gtcttataat ttacttaacc ttctttcaat tgttagaaat ttaggctatt
     4981 tccagatttt cagtattgta aataatgctg tgatgaccaa ttttgtgaat aaaatgtttt
     5041 tatgtatttc agattattcc cttaggatag tctctcagtg ccaagttgtc aaaaacatct
     5101 ctattttgct tatcttcctg ctctcttgct gccttagggg gtagtaaact gaaacataaa
     5161 gtaaacatgc atacaaataa aaaacataaa acaaaaataa gcaacctgat ggtaataggt
     5221 gaaagtggta acctgtttta actttgaatt cttgccgggc gcggtggctc acgcctgtaa
     5281 tcccagcact ttgggaggct gaggcgggtg gatcacgagg tcaggagttc aaaaccagcc
     5341 tggccaagat ggtgaaatcc cgtctctact aaaaatacaa aaattagccg ggcgtggtgg
     5401 cgggcgcctg taatcccagc tacttgggag gctgaggcag agaattgctt gaacccagga
     5461 ggcggaggtt gcagtgagcc aagatcgcgc cactgcactc cagcctgggt gacagagcga
     5521 gactccgtct caaataaaaa acaacaaaaa acaaaaaaaa cttaaaattc tttgcttgtt
     5581 agtgaccttg atcatggttc tctttgtacg atagttgggc atctgtattt ccacttgtgt
     5641 gaatttgcct ttaaattttg gttatgggtt tcacctttta aaataatcaa acatatttat
     5701 cttttcctgt gtgataggtt tttttctgta tcttttcctg ttaaacacac agacccctcc
     5761 ccaatctgga cattgaataa atattcattt tcctttgcat tgtttggggt ttggttttat
     5821 gcttactgtg tctctccacc ccattatcag agtaatatat gctcattgca taaaatctgg
     5881 aacatgtgaa aactggagat gaaaagaagc ccagcatttg agacataccc actgctgaca
     5941 tttgtatatt tcctttcatt cttttacctg cctaaagaca tatatgcaga tatggacata
     6001 tttagcttta catacatgca gactaccaca tataatctat atcttgtttt tttgatctaa
     6061 cacaatgtta gcttggtttt ttatgtcatt gacagttctt gattaacagc tgtaatggct
     6121 gcacagccct gcttcattaa tttttttttt tggactgaaa tgtatgtacc acgttccgct
     6181 tatccattca tccaccagtg accacttggg tcatttctac cttttggcca ttgcaataat
     6241 gttgctgtca acaaggatgt acaaatatct gttcgagtcc ctgctcttaa ttgttttggg
     6301 tatacaccca acctacatta atctttaatc acttaagatg ttggggtttg tgctgggagg
     6361 taaccaagtg actctggagc agcctcaccc tagctacaga gggaaactga ctcttccctc
     6421 tctgcccaat cttttgccgc ctgtcaggtt cccaagctgt ccatacctta ctgtgtgaag
     6481 cgctttgggt ataaactccc aaatagaggc tcagcccctt ttcctttccc aagtccatcc
     6541 tgcaggttat agctcttcag aggaatctct tgaattctgg cctgggatct gggattaaag
     6601 tagaacccag ggtgtccctt ggggccttag gcatagcccg ttgtggtgga acctgccatc
     6661 agccccactg cactcagtgg tcccctggta cttcaggaca gtttctctct tctgcacatg
     6721 agaacttcaa gcagagagga ctgtcagttg ttgccttcac atcaccaatc gtttggccat
     6781 aatggccaag agccctcact gctcttgggt cttgcctttc cacatgttac tgaaagctcc
     6841 cgttggtgtc cctgtccact aactcacctg atgggacaga tgccactttc ctctgagtgt
     6901 ctgataaaac acagtctgtt gtggggagcc cacgctcaag ggttttcttt gggatcagag
     6961 tttcccggct attactccat gccctgcctg acatcactgt catgtatggt gctaatcacc
     7021 aaaggatgcc cttgtttgat tctggattct aggtgatagt ccttatcctc tgatggggga
     7081 agagtttggg tgggagagaa caaaccgaca agttggttcc agatgaggtg gctgggagcc
     7141 aaccctcagg tacttggctc tgagtaatgt gacggcccag gcaagagggc tcccactgcc
     7201 aatgaggaac aaaagctcaa ggtctagtag tgtattcagc acatgctagg aaacaagagt
     7261 tgggacgtgg acaaggagag gagcaaaggc caggggttaa ctgcttttgg tttttcctct
     7321 ataaaagtca gggactatga tttatatggg tgagaaggtt tggagtagga ctgaagctgc
     7381 catttacaaa ccccttgccc taatttattg tagttttggg tgtgtttctg aaagaacctt
     7441 ttgcaggtga tttttattca gtactcatta acttacagct tttatgaatt cacatcttct
     7501 acactattga aaaacataag tttgtattgt gttaagtgca gcatgagtta ttatatgaat
     7561 aaatcacatt aaatttgcca
//
LOCUS       NM_000203               2174 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens alpha-L-iduronidase (IDUA), transcript variant 1, mRNA.
ACCESSION   NM_000203
VERSION     NM_000203.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2174)
  AUTHORS   He P, Jiang F, Wu LF, Zhou X, Lei SF and Deng FY.
  TITLE     Why SNP rs3755955 is associated with human bone mineral density? A
            molecular and cellular study in bone cells
  JOURNAL   Mol Cell Biochem 477 (2), 455-468 (2022)
   PUBMED   34783964
  REMARK    GeneRIF: Why SNP rs3755955 is associated with human bone mineral
            density? A molecular and cellular study in bone cells.
REFERENCE   2  (bases 1 to 2174)
  AUTHORS   Hurt SC, Dickson PI and Curiel DT.
  TITLE     Mucopolysaccharidoses type I gene therapy
  JOURNAL   J Inherit Metab Dis 44 (5), 1088-1098 (2021)
   PUBMED   34189746
  REMARK    GeneRIF: Mucopolysaccharidoses type I gene therapy. Review article
REFERENCE   3  (bases 1 to 2174)
  AUTHORS   .
  TITLE     Mucopolysaccharidosis Type I Phenotypically Corrected with Edited
            Hematopoietic Stem Cells: Instead of altering the IDUA gene, a
            protein was inserted in a repurposable place in the genome known as
            a 'safe harbor locus'
  JOURNAL   Am J Med Genet A 182 (2), 275-276 (2020)
   PUBMED   31943709
  REMARK    GeneRIF: Mucopolysaccharidosis Type I Phenotypically Corrected with
            Edited Hematopoietic Stem Cells: Instead of altering the IDUA gene,
            a protein was inserted in a repurposable place in the genome known
            as a ''safe harbor locus''.
REFERENCE   4  (bases 1 to 2174)
  AUTHORS   Clarke,L.A.
  TITLE     Mucopolysaccharidosis Type I
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301341
REFERENCE   5  (bases 1 to 2174)
  AUTHORS   Scott HS, Litjens T, Hopwood JJ and Morris CP.
  TITLE     PCR detection of two RFLPs in exon I of the alpha-L-iduronidase
            (IDUA) gene
  JOURNAL   Hum Genet 90 (3), 327 (1992)
   PUBMED   1362562
REFERENCE   6  (bases 1 to 2174)
  AUTHORS   Scott HS, Guo XH, Hopwood JJ and Morris CP.
  TITLE     Structure and sequence of the human alpha-L-iduronidase gene
  JOURNAL   Genomics 13 (4), 1311-1313 (1992)
   PUBMED   1505961
REFERENCE   7  (bases 1 to 2174)
  AUTHORS   Scott HS, Litjens T, Nelson PV, Brooks DA, Hopwood JJ and Morris CP.
  TITLE     alpha-L-iduronidase mutations (Q70X and P533R) associate with a
            severe Hurler phenotype
  JOURNAL   Hum Mutat 1 (4), 333-339 (1992)
   PUBMED   1301941
REFERENCE   8  (bases 1 to 2174)
  AUTHORS   Scott HS, Anson DS, Orsborn AM, Nelson PV, Clements PR, Morris CP
            and Hopwood JJ.
  TITLE     Human alpha-L-iduronidase: cDNA isolation and expression
  JOURNAL   Proc Natl Acad Sci U S A 88 (21), 9695-9699 (1991)
   PUBMED   1946389
REFERENCE   9  (bases 1 to 2174)
  AUTHORS   MacDonald ME, Scott HS, Whaley WL, Pohl T, Wasmuth JJ, Lehrach H,
            Morris CP, Frischauf AM, Hopwood JJ and Gusella JF.
  TITLE     Huntington disease-linked locus D4S111 exposed as the
            alpha-L-iduronidase gene
  JOURNAL   Somat Cell Mol Genet 17 (4), 421-425 (1991)
   PUBMED   1832239
REFERENCE   10  (bases 1 to 2174)
  AUTHORS   Scott HS, Ashton LJ, Eyre HJ, Baker E, Brooks DA, Callen DF,
            Sutherland GR, Morris CP and Hopwood JJ.
  TITLE     Chromosomal localization of the human alpha-L-iduronidase gene
            (IDUA) to 4p16.3
  JOURNAL   Am J Hum Genet 47 (5), 802-807 (1990)
   PUBMED   2220820
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M74715.1, AK291816.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000514224.2/ ENSP00000425081.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M74715.1 and AC019103.8.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 20, 2018 this sequence version replaced NM_000203.4.
            Summary: This gene encodes an enzyme that hydrolyzes the terminal
            alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan
            sulfate and heparan sulfate. This hydrolysis is required for the
            lysosomal degradation of these glycosaminoglycans. Mutations in
            this gene that result in enzymatic deficiency lead to the autosomal
            recessive disease mucopolysaccharidosis type I (MPS I). [provided
            by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2174
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..2174
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /note="alpha-L-iduronidase"
                     /db_xref="GeneID:3425"
                     /db_xref="HGNC:HGNC:5391"
                     /db_xref="MIM:252800"
     CDS             42..2003
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /EC_number="3.2.1.76"
                     /note="isoform a precursor is encoded by transcript variant
                     1; mucopolysaccharidosis type I; iduronidase alpha-L-"
                     /codon_start=1
                     /product="alpha-L-iduronidase isoform a precursor"
                     /protein_id="NP_000194.2"
                     /db_xref="CCDS:CCDS3343.1"
                     /db_xref="GeneID:3425"
                     /db_xref="HGNC:HGNC:5391"
                     /db_xref="MIM:252800"
                     /translation="MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLRR
                     FWRSTGFCPPLPHSQADQYVLSWDQQLNLAYVGAVPHRGIKQVRTHWLLELVTTRGSTG
                     RGLSYNFTHLDGYLDLLRENQLLPGFELMGSASGHFTDFEDKQQVFEWKDLVSSLARRY
                     IGRYGLAHVSKWNFETWNEPDHHDFDNVSMTMQGFLNYYDACSEGLRAASPALRLGGPG
                     DSFHTPPRSPLSWGLLRHCHDGTNFFTGEAGVRLDYISLHRKGARSSISILEQEKVVAQ
                     QIRQLFPKFADTPIYNDEADPLVGWSLPQPWRADVTYAAMVVKVIAQHQNLLLANTTSA
                     FPYALLSNDNAFLSYHPHPFAQRTLTARFQVNNTRPPHVQLLRKPVLTAMGLLALLDEE
                     QLWAEVSQAGTVLDSNHTVGVLASAHRPQGPADAWRAAVLIYASDDTRAHPNRSVAVTL
                     RLRGVPPGPGLVYVTRYLDNGLCSPDGEWRRLGRPVFPTAEQFRRMRAAEDPVAAAPRP
                     LPAGGRLTLRPALRLPSLLLVHVCARPEKPPGQVTRLRALPLTQGQLVLVWSDEHVGSK
                     CLWTYEIQFSQDGKAYTPVSRKPSTFNLFVFSPDTGAVSGSYRVRALDYWARPGPFSDP
                     VPYLEVPVPRGPPSPGNP"
     sig_peptide     42..98
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      2098..2103
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /note="hexamer: AATATA"
     polyA_site      2116
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /note="major polyA site"
     polyA_site      2174
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
ORIGIN
        1 agtgcagccc gaagccccgc agtccccgag cacgcgtggc catgcgtccc ctgcgccccc
       61 gcgccgcgct gctggcgctc ctggcctcgc tcctggccgc gcccccggtg gccccggccg
      121 aggccccgca cctggtgcat gtggacgcgg cccgcgcgct gtggcccctg cggcgcttct
      181 ggaggagcac aggcttctgc cccccgctgc cacacagcca ggctgaccag tacgtcctca
      241 gctgggacca gcagctcaac ctcgcctatg tgggcgccgt ccctcaccgc ggcatcaagc
      301 aggtccggac ccactggctg ctggagcttg tcaccaccag ggggtccact ggacggggcc
      361 tgagctacaa cttcacccac ctggacgggt acctggacct tctcagggag aaccagctcc
      421 tcccagggtt tgagctgatg ggcagcgcct cgggccactt cactgacttt gaggacaagc
      481 agcaggtgtt tgagtggaag gacttggtct ccagcctggc caggagatac atcggtaggt
      541 acggactggc gcatgtttcc aagtggaact tcgagacgtg gaatgagcca gaccaccacg
      601 actttgacaa cgtctccatg accatgcaag gcttcctgaa ctactacgat gcctgctcgg
      661 agggtctgcg cgccgccagc cccgccctgc ggctgggagg ccccggcgac tccttccaca
      721 ccccaccgcg atccccgctg agctggggcc tcctgcgcca ctgccacgac ggtaccaact
      781 tcttcactgg ggaggcgggc gtgcggctgg actacatctc cctccacagg aagggtgcgc
      841 gcagctccat ctccatcctg gagcaggaga aggtcgtcgc gcagcagatc cggcagctct
      901 tccccaagtt cgcggacacc cccatttaca acgacgaggc ggacccgctg gtgggctggt
      961 ccctgccaca gccgtggagg gcggacgtga cctacgcggc catggtggtg aaggtcatcg
     1021 cgcagcatca gaacctgcta ctggccaaca ccacctccgc cttcccctac gcgctcctga
     1081 gcaacgacaa tgccttcctg agctaccacc cgcacccctt cgcgcagcgc acgctcaccg
     1141 cgcgcttcca ggtcaacaac acccgcccgc cgcacgtgca gctgttgcgc aagccggtgc
     1201 tcacggccat ggggctgctg gcgctgctgg atgaggagca gctctgggcc gaagtgtcgc
     1261 aggccgggac cgtcctggac agcaaccaca cggtgggcgt cctggccagc gcccaccgcc
     1321 cccagggccc ggccgacgcc tggcgcgccg cggtgctgat ctacgcgagc gacgacaccc
     1381 gcgcccaccc caaccgcagc gtcgcggtga ccctgcggct gcgcggggtg ccccccggcc
     1441 cgggcctggt ctacgtcacg cgctacctgg acaacgggct ctgcagcccc gacggcgagt
     1501 ggcggcgcct gggccggccc gtcttcccca cggcagagca gttccggcgc atgcgcgcgg
     1561 ctgaggaccc ggtggccgcg gcgccccgcc ccttacccgc cggcggccgc ctgaccctgc
     1621 gccccgcgct gcggctgccg tcgcttttgc tggtgcacgt gtgtgcgcgc cccgagaagc
     1681 cgcccgggca ggtcacgcgg ctccgcgccc tgcccctgac ccaagggcag ctggttctgg
     1741 tctggtcgga tgaacacgtg ggctccaagt gcctgtggac atacgagatc cagttctctc
     1801 aggacggtaa ggcgtacacc ccggtcagca ggaagccatc gaccttcaac ctctttgtgt
     1861 tcagcccaga cacaggtgct gtctctggct cctaccgagt tcgagccctg gactactggg
     1921 cccgaccagg ccccttctcg gaccctgtgc cgtacctgga ggtccctgtg ccaagagggc
     1981 ccccatcccc gggcaatcca tgagcctgtg ctgagcccca gtgggttgca cctccaccgg
     2041 cagtcagcga gctggggctg cactgtgccc atgctgccct cccatcaccc cctttgcaat
     2101 atatttttat attttattat tttcttttat atcttggtac caacgccccc tttaaagcgg
     2161 ctttgcacag gtca
//
LOCUS       NM_000204               1978 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens complement factor I (CFI), transcript variant 2, mRNA.
ACCESSION   NM_000204
VERSION     NM_000204.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1978)
  AUTHORS   Hallam TM, Sharp SJ, Andreadi A and Kavanagh D.
  TITLE     Complement factor I: Regulatory nexus, driver of immunopathology,
            and therapeutic
  JOURNAL   Immunobiology 228 (5), 152410 (2023)
   PUBMED   37478687
  REMARK    GeneRIF: Complement factor I: Regulatory nexus, driver of
            immunopathology, and therapeutic.
REFERENCE   2  (bases 1 to 1978)
  AUTHORS   Java A, Atkinson J, Hu Z and Pozzi N.
  TITLE     Mutations in atypical hemolytic uremic syndrome provide evidence for
            the role of calcium in complement factor I
  JOURNAL   Blood 142 (6), 607-610 (2023)
   PUBMED   37363824
  REMARK    GeneRIF: Mutations in atypical hemolytic uremic syndrome provide
            evidence for the role of calcium in complement factor I.
REFERENCE   3  (bases 1 to 1978)
  AUTHORS   Hallam TM, Cox TE, Smith-Jackson K, Brocklebank V, Baral AJ, Tzoumas
            N, Steel DH, Wong EKS, Shuttleworth VG, Lotery AJ, Harris CL,
            Marchbank KJ and Kavanagh D.
  TITLE     A novel method for real-time analysis of the complement C3b:FH:FI
            complex reveals dominant negative CFI variants in age-related
            macular degeneration
  JOURNAL   Front Immunol 13, 1028760 (2022)
   PUBMED   36643920
  REMARK    GeneRIF: A novel method for real-time analysis of the complement
            C3b:FH:FI complex reveals dominant negative CFI variants in
            age-related macular degeneration. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1978)
  AUTHORS   Jones AV, Curtiss D, Harris C, Southerington T, Hautalahti M, Wihuri
            P, Makela J, Kallionpaa RE, Makkonen E, Knopp T, Mannermaa A,
            Makinen E, Moilanen AM, Tezel TH and Waheed NK.
  CONSRTM   SCOPE Study group
  TITLE     An assessment of prevalence of Type 1 CFI rare variants in European
            AMD, and why lack of broader genetic data hinders development of new
            treatments and healthcare access
  JOURNAL   PLoS One 17 (9), e0272260 (2022)
   PUBMED   36067162
  REMARK    GeneRIF: An assessment of prevalence of Type 1 CFI rare variants in
            European AMD, and why lack of broader genetic data hinders
            development of new treatments and healthcare access. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 1978)
  AUTHORS   van de Ven JP, Nilsson SC, Tan PL, Buitendijk GH, Ristau T, Mohlin
            FC, Nabuurs SB, Schoenmaker-Koller FE, Smailhodzic D, Campochiaro
            PA, Zack DJ, Duvvari MR, Bakker B, Paun CC, Boon CJ, Uitterlinden
            AG, Liakopoulos S, Klevering BJ, Fauser S, Daha MR, Katsanis N,
            Klaver CC, Blom AM, Hoyng CB and den Hollander AI.
  TITLE     A functional variant in the CFI gene confers a high risk of
            age-related macular degeneration
  JOURNAL   Nat Genet 45 (7), 813-817 (2013)
   PUBMED   23685748
  REMARK    GeneRIF: these findings demonstrate that rare, highly penetrant
            mutations in CFI contribute to the genetic burden of age-related
            macular degeneration.
REFERENCE   6  (bases 1 to 1978)
  AUTHORS   Martin,B. and Smith,R.J.H.
  TITLE     C3 Glomerulopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301598
REFERENCE   7  (bases 1 to 1978)
  AUTHORS   Noris,M., Bresin,E., Mele,C. and Remuzzi,G.
  TITLE     Genetic Atypical Hemolytic-Uremic Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301541
REFERENCE   8  (bases 1 to 1978)
  AUTHORS   DiScipio RG.
  TITLE     Ultrastructures and interactions of complement factors H and I
  JOURNAL   J Immunol 149 (8), 2592-2599 (1992)
   PUBMED   1401896
REFERENCE   9  (bases 1 to 1978)
  AUTHORS   Shiang R, Murray JC, Morton CC, Buetow KH, Wasmuth JJ, Olney AH,
            Sanger WG and Goldberger G.
  TITLE     Mapping of the human complement factor I gene to 4q25
  JOURNAL   Genomics 4 (1), 82-86 (1989)
   PUBMED   2563353
REFERENCE   10  (bases 1 to 1978)
  AUTHORS   Catterall,C.F., Lyons,A., Sim,R.B., Day,A.J. and Harris,T.J.
  TITLE     Characterization of primary amino acid sequence of human complement
            control protein factor I from an analysis of cDNA clones
  JOURNAL   Biochem J 242 (3), 849-856 (1987)
   PUBMED   2954545
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: Y00318.1, J02770.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN04284274
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000394634.7/ ENSP00000378130.2
            RefSeq Select criteria      :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC126283.3.
            On Feb 26, 2020 this sequence version replaced NM_000204.4.
            Summary: This gene encodes a serine proteinase that is essential
            for regulating the complement cascade. The encoded preproprotein is
            cleaved to produce both heavy and light chains, which are linked by
            disulfide bonds to form a heterodimeric glycoprotein. This
            heterodimer can cleave and inactivate the complement components C4b
            and C3b, and it prevents the assembly of the C3 and C5 convertase
            enzymes. Defects in this gene cause complement factor I deficiency,
            an autosomal recessive disease associated with a susceptibility to
            pyogenic infections. Mutations in this gene have been associated
            with a predisposition to atypical hemolytic uremic syndrome, a
            disease characterized by acute renal failure, microangiopathic
            hemolytic anemia and thrombocytopenia. Primary glomerulonephritis
            with immune deposits and age-related macular degeneration are other
            conditions associated with mutations of this gene. [provided by
            RefSeq, Dec 2015].
            Transcript Variant: This variant (2) encodes isoform 2.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1978
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25"
     gene            1..1978
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF"
                     /note="complement factor I"
                     /db_xref="GeneID:3426"
                     /db_xref="HGNC:HGNC:5394"
                     /db_xref="MIM:217030"
     CDS             29..1780
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF"
                     /EC_number="3.4.21.45"
                     /note="isoform 2 preproprotein is encoded by transcript
                     variant 2; C3b-inactivator; Konglutinogen-activating
                     factor; complement factor I heavy chain; complement
                     component I; C3B/C4B inactivator; complement control
                     protein factor I; light chain of factor I"
                     /codon_start=1
                     /product="complement factor I isoform 2 preproprotein"
                     /protein_id="NP_000195.3"
                     /db_xref="CCDS:CCDS34049.1"
                     /db_xref="GeneID:3426"
                     /db_xref="HGNC:HGNC:5394"
                     /db_xref="MIM:217030"
                     /translation="MKLLHVFLLFLCFHLRFCKVTYTSQEDLVEKKCLAKKYTHLSCDK
                     VFCQPWQRCIEGTCVCKLPYQCPKNGTAVCATNRRSFPTYCQQKSLECLHPGTKFLNNG
                     TCTAEGKFSVSLKHGNTDSEGIVEVKLVDQDKTMFICKSSWSMREANVACLDLGFQQGA
                     DTQRRFKLSDLSINSTECLHVHCRGLETSLAECTFTKRRTMGYQDFADVVCYTQKADSP
                     MDDFFQCVNGKYISQMKACDGINDCGDQSDELCCKACQGKGFHCKSGVCIPSQYQCNGE
                     VDCITGEDEVGCAGFASVTQEETEILTADMDAERRRIKSLLPKLSCGVKNRMHIRRKRI
                     VGGKRAQLGDLPWQVAIKDASGITCGGIYIGGCWILTAAHCLRASKTHRYQIWTTVVDW
                     IHPDLKRIVIEYVDRIIFHENYNAGTYQNDIALIEMKKDGNKKDCELPRSIPACVPWSP
                     YLFQPNDTCIVSGWGREKDNERVFSLQWGEVKLISNCSKFYGNRFYEKEMECAGTYDGS
                     IDACKGDSGGPLVCMDANNVTYVWGVVSWGENCGKPEFPGVYTKVANYFDWISYHVGRP
                     FISQYNV"
     sig_peptide     29..82
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     83..1777
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF"
                     /product="Complement factor I. /id=PRO_0000027568"
                     /note="propagated from UniProtKB/Swiss-Prot (P05156.2)"
     mat_peptide     83..1033
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF"
                     /product="Complement factor I heavy chain.
                     /id=PRO_0000027569"
                     /note="propagated from UniProtKB/Swiss-Prot (P05156.2)"
     misc_feature    236..238
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:21768352, ECO:0007744|PDB:2XRC;
                     propagated from UniProtKB/Swiss-Prot (P05156.2);
                     glycosylation site"
     misc_feature    335..337
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19838169, ECO:0000269|PubMed:21768352,
                     ECO:0007744|PDB:2XRC; propagated from UniProtKB/Swiss-Prot
                     (P05156.2); glycosylation site"
     misc_feature    557..559
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:21768352, ECO:0007744|PDB:2XRC;
                     propagated from UniProtKB/Swiss-Prot (P05156.2);
                     glycosylation site"
     mat_peptide     1046..1777
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF"
                     /product="Complement factor I light chain.
                     /id=PRO_0000027570"
                     /note="propagated from UniProtKB/Swiss-Prot (P05156.2)"
     misc_feature    1418..1420
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:21768352,
                     ECO:0007744|PDB:2XRC; propagated from UniProtKB/Swiss-Prot
                     (P05156.2); glycosylation site"
     misc_feature    1508..1510
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21768352,
                     ECO:0007744|PDB:2XRC; propagated from UniProtKB/Swiss-Prot
                     (P05156.2); glycosylation site"
     misc_feature    1634..1636
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:21768352, ECO:0007744|PDB:2XRC;
                     propagated from UniProtKB/Swiss-Prot (P05156.2);
                     glycosylation site"
     regulatory      1956..1961
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF"
                     /note="hexamer: AATAAA"
     polyA_site      1978
                     /gene="CFI"
                     /gene_synonym="AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF"
                     /note="major polyA site"
ORIGIN
        1 agagacaaag accccgaaca cctccaacat gaagcttctt catgttttcc tgttatttct
       61 gtgcttccac ttaaggtttt gcaaggtcac ttatacatct caagaggatc tggtggagaa
      121 aaagtgctta gcaaaaaaat atactcacct ctcctgcgat aaagtcttct gccagccatg
      181 gcagagatgc attgagggca cctgtgtttg taaactaccg tatcagtgcc caaagaatgg
      241 cactgcagtg tgtgcaacta acaggagaag cttcccaaca tactgtcaac aaaagagttt
      301 ggaatgtctt catccaggga caaagttttt aaataacgga acatgcacag ccgaaggaaa
      361 gtttagtgtt tccttgaagc atggaaatac agattcagag ggaatagttg aagtaaaact
      421 tgtggaccaa gataagacaa tgttcatatg caaaagcagc tggagcatga gggaagccaa
      481 cgtggcctgc cttgaccttg ggtttcaaca aggtgctgat actcaaagaa ggtttaagtt
      541 gtctgatctc tctataaatt ccactgaatg tctacatgtg cattgccgag gattagagac
      601 cagtttggct gaatgtactt ttactaagag aagaactatg ggttaccagg atttcgctga
      661 tgtggtttgt tatacacaga aagcagattc tccaatggat gacttctttc agtgtgtgaa
      721 tgggaaatac atttctcaga tgaaagcctg tgatggtatc aatgattgtg gagaccaaag
      781 tgatgaactg tgttgtaaag catgccaagg caaaggcttc cattgcaaat cgggtgtttg
      841 cattccaagc cagtatcaat gcaatggtga ggtggactgc attacagggg aagatgaagt
      901 tggctgtgca ggctttgcat ctgtgactca agaagaaaca gaaattttga ctgctgacat
      961 ggatgcagaa agaagacgga taaaatcatt attacctaaa ctatcttgtg gagttaaaaa
     1021 cagaatgcac attcgaagga aacgaattgt gggaggaaag cgagcacaac tgggagacct
     1081 cccatggcag gtggcaatta aggatgccag tggaatcacc tgtgggggaa tttatattgg
     1141 tggctgttgg attctgactg ctgcacattg tctcagagcc agtaaaactc atcgttacca
     1201 aatatggaca acagtagtag actggataca ccccgacctt aaacgtatag taattgaata
     1261 cgtggataga attattttcc atgaaaacta caatgcaggc acttaccaaa atgacatcgc
     1321 tttgattgaa atgaaaaaag acggaaacaa aaaagattgt gagctgcctc gttccatccc
     1381 tgcctgtgtc ccctggtctc cttacctatt ccaacctaat gatacatgca tcgtttctgg
     1441 ctggggacga gaaaaagata acgaaagagt cttttcactt cagtggggtg aagttaaact
     1501 aataagcaac tgctctaagt tttacggaaa tcgtttctat gaaaaagaaa tggaatgtgc
     1561 aggtacatat gatggttcca tcgatgcctg taaaggggac tctggaggcc ccttagtctg
     1621 tatggatgcc aacaatgtga cttatgtctg gggtgttgtg agttgggggg aaaactgtgg
     1681 aaaaccagag ttcccaggtg tttacaccaa agtggccaat tattttgact ggattagcta
     1741 ccatgtagga aggcctttta tttctcagta caatgtataa aattgtgatc tctctcttca
     1801 ttctattctt tttctctcaa gagttccatt taatggaaat aaaacggtat aattaataat
     1861 tctctagggg ggaaaaatga agcaaatctc actggatatt tttaaaggtc tccacagagt
     1921 ttatgccata ttggaatttt gttgtataat tctcaaataa atattttggt gaagcata
//
LOCUS       NM_000206               1480 bp    mRNA    linear   PRI 23-MAY-2023
DEFINITION  Homo sapiens interleukin 2 receptor subunit gamma (IL2RG), mRNA.
ACCESSION   NM_000206
VERSION     NM_000206.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1480)
  AUTHORS   Progneaux A, Evrard C, De Glas V, Fontaine A, Dotreppe C, De Vuyst
            E, Nikkels AF, Garcia-Gonzalez V, Dumoutier L, Lambert de Rouvroit C
            and Poumay Y.
  TITLE     Keratinocytes activated by IL-4/IL-13 express IL-2Rgamma with
            consequences on epidermal barrier function
  JOURNAL   Exp Dermatol 32 (5), 660-670 (2023)
   PUBMED   36645024
  REMARK    GeneRIF: Keratinocytes activated by IL-4/IL-13 express IL-2Rgamma
            with consequences on epidermal barrier function.
REFERENCE   2  (bases 1 to 1480)
  AUTHORS   Hou Y, Gratz HP, Urena-Bailen G, Gratz PG, Schilbach-Stuckle K,
            Renno T, Gungor D, Mader DA, Malenke E, Antony JS, Handgretinger R
            and Mezger M.
  TITLE     Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical
            X-Linked Combined Immunodeficiency
  JOURNAL   Genes (Basel) 13 (1), 35 (2021)
   PUBMED   35052377
  REMARK    GeneRIF: Somatic Reversion of a Novel IL2RG Mutation Resulting in
            Atypical X-Linked Combined Immunodeficiency. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1480)
  AUTHORS   Zhang L, Ge JY, Zheng YW, Sun Z, Wang C, Peng Z, Wu B, Fang M,
            Furuya K, Ma X, Shao Y, Ohkohchi N, Oda T, Fan J, Pan G, Li D and
            Hui L.
  TITLE     Survival-Assured Liver Injury Preconditioning (SALIC) Enables Robust
            Expansion of Human Hepatocytes in Fah-/- Rag2-/- IL2rg-/- Rats
  JOURNAL   Adv Sci (Weinh) 8 (19), e2101188 (2021)
   PUBMED   34382351
  REMARK    GeneRIF: Survival-Assured Liver Injury Preconditioning (SALIC)
            Enables Robust Expansion of Human Hepatocytes in Fah(-/-) Rag2(-/-)
            IL2rg(-/-) Rats.
REFERENCE   4  (bases 1 to 1480)
  AUTHORS   Ohbo K, Takasawa N, Ishii N, Tanaka N, Nakamura M and Sugamura K.
  TITLE     Functional analysis of the human interleukin 2 receptor gamma chain
            gene promoter
  JOURNAL   J Biol Chem 270 (13), 7479-7486 (1995)
   PUBMED   7706294
REFERENCE   5  (bases 1 to 1480)
  AUTHORS   Bamborough P, Hedgecock CJ and Richards WG.
  TITLE     The interleukin-2 and interleukin-4 receptors studied by molecular
            modelling
  JOURNAL   Structure 2 (9), 839-851 (1994)
   PUBMED   7529123
REFERENCE   6  (bases 1 to 1480)
  AUTHORS   Puck JM, Deschenes SM, Porter JC, Dutra AS, Brown CJ, Willard HF and
            Henthorn PS.
  TITLE     The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated
            in X-linked severe combined immunodeficiency, SCIDX1
  JOURNAL   Hum Mol Genet 2 (8), 1099-1104 (1993)
   PUBMED   8401490
REFERENCE   7  (bases 1 to 1480)
  AUTHORS   Noguchi M, Adelstein S, Cao X and Leonard WJ.
  TITLE     Characterization of the human interleukin-2 receptor gamma chain
            gene
  JOURNAL   J Biol Chem 268 (18), 13601-13608 (1993)
   PUBMED   8514792
REFERENCE   8  (bases 1 to 1480)
  AUTHORS   Allenspach,E.J., Rawlings,D.J., Petrovic,A. and Chen,K.
  TITLE     X-Linked Severe Combined Immunodeficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301584
REFERENCE   9  (bases 1 to 1480)
  AUTHORS   Takeshita T, Asao H, Ohtani K, Ishii N, Kumaki S, Tanaka N, Munakata
            H, Nakamura M and Sugamura K.
  TITLE     Cloning of the gamma chain of the human IL-2 receptor
  JOURNAL   Science 257 (5068), 379-382 (1992)
   PUBMED   1631559
REFERENCE   10  (bases 1 to 1480)
  AUTHORS   Burton J, Goldman CK, Rao P, Moos M and Waldmann TA.
  TITLE     Association of intercellular adhesion molecule 1 with the multichain
            high-affinity interleukin 2 receptor
  JOURNAL   Proc Natl Acad Sci U S A 87 (18), 7329-7333 (1990)
   PUBMED   1976256
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC014972.1, D11086.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374202.7/ ENSP00000363318.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC345219.1 and BC014972.1.
            On Dec 4, 2019 this sequence version replaced NM_000206.2.
            Summary: The protein encoded by this gene is an important signaling
            component of many interleukin receptors, including those of
            interleukin -2, -4, -7 and -21, and is thus referred to as the
            common gamma chain. Mutations in this gene cause X-linked severe
            combined immunodeficiency (XSCID), as well as X-linked combined
            immunodeficiency (XCID), a less severe immunodeficiency disorder.
            [provided by RefSeq, Mar 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1480
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..1480
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="interleukin 2 receptor subunit gamma"
                     /db_xref="GeneID:3561"
                     /db_xref="HGNC:HGNC:6010"
                     /db_xref="MIM:308380"
     misc_feature    1
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="alternative transcription start site"
     misc_feature    3
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="alternative and major transcription start site"
     misc_feature    7
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="alternative transcription start site"
     misc_feature    24..26
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="upstream in-frame stop codon"
     CDS             39..1148
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="common cytokine receptor gamma chain; cytokine
                     receptor common subunit gamma; CD132 antigen; gammaC; IL-2R
                     subunit gamma; IL-2 receptor subunit gamma; nonfunctional
                     common cytokine receptor gamma chain; interleukin 2
                     receptor, gamma"
                     /codon_start=1
                     /product="cytokine receptor common subunit gamma precursor"
                     /protein_id="NP_000197.1"
                     /db_xref="CCDS:CCDS14406.1"
                     /db_xref="GeneID:3561"
                     /db_xref="HGNC:HGNC:6010"
                     /db_xref="MIM:308380"
                     /translation="MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTM
                     PTDSLSVSTLPLPEVQCFVFNVEYMNCTWNSSSEPQPTNLTLHYWYKNSDNDKVQKCSH
                     YLFSEEITSGCQLQKKEIHLYQTFVVQLQDPREPRRQATQMLKLQNLVIPWAPENLTLH
                     KLSESQLELNWNNRFLNHCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKRYTFR
                     VRSRFNPLCGSAQHWSEWSHPIHWGSNTSKENPFLFALEAVVISVGSMGLIISLLCVYF
                     WLERTMPRIPTLKNLEDLVTEYHGNFSAWSGVSKGLAESLQPDYSERLCLVSEIPPKGG
                     ALGEGPGASPCNQHSPYWAPPCYTLKPET"
     sig_peptide     39..104
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     105..1145
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /product="cytokine receptor common subunit gamma"
     misc_feature    108..110
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P31785.1); glycosylation site"
     misc_feature    249..251
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16293754,
                     ECO:0000269|PubMed:16477002; propagated from
                     UniProtKB/Swiss-Prot (P31785.1); glycosylation site"
     misc_feature    261..263
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P31785.1); glycosylation site"
     misc_feature    288..290
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16293754,
                     ECO:0000269|PubMed:16477002; propagated from
                     UniProtKB/Swiss-Prot (P31785.1); glycosylation site"
     misc_feature    513..515
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16293754,
                     ECO:0000269|PubMed:16477002; propagated from
                     UniProtKB/Swiss-Prot (P31785.1); glycosylation site"
     misc_feature    747..761
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31785.1);
                     Region: WSXWS motif"
     misc_feature    783..785
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P31785.1); glycosylation site"
     misc_feature    825..887
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31785.1);
                     transmembrane region"
     misc_feature    894..920
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31785.1);
                     Region: Box 1 motif"
     misc_feature    912..914
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P31785.1); phosphorylation site"
     regulatory      1451..1456
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="hexamer: AATAAA"
     polyA_site      1480
                     /gene="IL2RG"
                     /gene_synonym="CD132; CIDX; IL-2RG; IMD4; P64; SCIDX;
                     SCIDX1"
                     /note="major polyA site"
ORIGIN
        1 acagacagac tacacccagg gaatgaagag caagcgccat gttgaagcca tcattaccat
       61 tcacatccct cttattcctg cagctgcccc tgctgggagt ggggctgaac acgacaattc
      121 tgacgcccaa tgggaatgaa gacaccacag ctgatttctt cctgaccact atgcccactg
      181 actccctcag tgtttccact ctgcccctcc cagaggttca gtgttttgtg ttcaatgtcg
      241 agtacatgaa ttgcacttgg aacagcagct ctgagcccca gcctaccaac ctcactctgc
      301 attattggta caagaactcg gataatgata aagtccagaa gtgcagccac tatctattct
      361 ctgaagaaat cacttctggc tgtcagttgc aaaaaaagga gatccacctc taccaaacat
      421 ttgttgttca gctccaggac ccacgggaac ccaggagaca ggccacacag atgctaaaac
      481 tgcagaatct ggtgatcccc tgggctccag agaacctaac acttcacaaa ctgagtgaat
      541 cccagctaga actgaactgg aacaacagat tcttgaacca ctgtttggag cacttggtgc
      601 agtaccggac tgactgggac cacagctgga ctgaacaatc agtggattat agacataagt
      661 tctccttgcc tagtgtggat gggcagaaac gctacacgtt tcgtgttcgg agccgcttta
      721 acccactctg tggaagtgct cagcattgga gtgaatggag ccacccaatc cactggggga
      781 gcaatacttc aaaagagaat cctttcctgt ttgcattgga agccgtggtt atctctgttg
      841 gctccatggg attgattatc agccttctct gtgtgtattt ctggctggaa cggacgatgc
      901 cccgaattcc caccctgaag aacctagagg atcttgttac tgaataccac gggaactttt
      961 cggcctggag tggtgtgtct aagggactgg ctgagagtct gcagccagac tacagtgaac
     1021 gactctgcct cgtcagtgag attcccccaa aaggaggggc ccttggggag gggcctgggg
     1081 cctccccatg caaccagcat agcccctact gggccccccc atgttacacc ctaaagcctg
     1141 aaacctgaac cccaatcctc tgacagaaga accccagggt cctgtagccc taagtggtac
     1201 taactttcct tcattcaacc cacctgcgtc tcatactcac ctcaccccac tgtggctgat
     1261 ttggaatttt gtgcccccat gtaagcaccc cttcatttgg cattccccac ttgagaatta
     1321 cccttttgcc ccgaacatgt ttttcttctc cctcagtctg gcccttcctt ttcgcaggat
     1381 tcttcctccc tccctctttc cctcccttcc tctttccatc taccctccga ttgttcctga
     1441 accgatgaga aataaagttt ctgttgataa tcatcaaaaa
//
LOCUS       NM_000207                465 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens insulin (INS), transcript variant 1, mRNA.
ACCESSION   NM_000207
VERSION     NM_000207.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 465)
  AUTHORS   Jevtovic F, Zheng D, Houmard JA, Kern K, Claiborne A, Lopez CA,
            Broskey NT, Isler C, DeVente J, Newton E and May LE.
  TITLE     Myogenically differentiated mesenchymal stem cell insulin
            sensitivity is associated with infant adiposity at 1 and 6 months of
            age
  JOURNAL   Obesity (Silver Spring) 31 (9), 2349-2358 (2023)
   PUBMED   37551412
  REMARK    GeneRIF: Myogenically differentiated mesenchymal stem cell insulin
            sensitivity is associated with infant adiposity at 1 and 6 months of
            age.
REFERENCE   2  (bases 1 to 465)
  AUTHORS   Lee MK, Ryu H, Van JY, Kim MJ, Jeong HH, Jung WK, Jun JY and Lee B.
  TITLE     The Role of Macrophage Populations in Skeletal Muscle Insulin
            Sensitivity: Current Understanding and Implications
  JOURNAL   Int J Mol Sci 24 (14), 11467 (2023)
   PUBMED   37511225
  REMARK    GeneRIF: The Role of Macrophage Populations in Skeletal Muscle
            Insulin Sensitivity: Current Understanding and Implications. Review
            article Publication Status: Online-Only
REFERENCE   3  (bases 1 to 465)
  AUTHORS   Kralovicova J and Vorechovsky I.
  TITLE     Allele-specific recognition of the 3' splice site of INS intron 1
  JOURNAL   Hum Genet 128 (4), 383-400 (2010)
   PUBMED   20628762
  REMARK    GeneRIF: Findings reveal critical interactions underlying the
            allele-dependent INS expression and INS-mediated risk of T1D
REFERENCE   4  (bases 1 to 465)
  AUTHORS   Stead JD, Hurles ME and Jeffreys AJ.
  TITLE     Global haplotype diversity in the human insulin gene region
  JOURNAL   Genome Res 13 (9), 2101-2111 (2003)
   PUBMED   12952878
REFERENCE   5  (bases 1 to 465)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   29792621
REFERENCE   6  (bases 1 to 465)
  AUTHORS   De Leon,D.D. and Stanley,C.A.
  TITLE     Permanent Neonatal Diabetes Mellitus
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301620
REFERENCE   7  (bases 1 to 465)
  AUTHORS   Bell,G.I., Swain,W.F., Pictet,R., Cordell,B., Goodman,H.M. and
            Rutter,W.J.
  TITLE     Nucleotide sequence of a cDNA clone encoding human preproinsulin
  JOURNAL   Nature 282 (5738), 525-527 (1979)
   PUBMED   503234
REFERENCE   8  (bases 1 to 465)
  AUTHORS   Tager,H., Given,B., Baldwin,D., Mako,M., Markese,J., Rubenstein,A.,
            Olefsky,J., Kobayashi,M., Kolterman,O. and Poucher,R.
  TITLE     A structurally abnormal insulin causing human diabetes
  JOURNAL   Nature 281 (5727), 122-125 (1979)
   PUBMED   381941
REFERENCE   9  (bases 1 to 465)
  AUTHORS   Flynn,T.J., Deshmukh,D.S. and Pieringer,R.A.
  TITLE     Effects of altered thyroid function on galactosyl diacylglycerol
            metabolism in myelinating rat brain
  JOURNAL   J Biol Chem 252 (16), 5864-5870 (1977)
   PUBMED   195962
REFERENCE   10  (bases 1 to 465)
  AUTHORS   SANGER,F.
  TITLE     Chemistry of insulin; determination of the structure of insulin
            opens the way to greater understanding of life processes
  JOURNAL   Science 129 (3359), 1340-1344 (1959)
   PUBMED   13658959
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BU784533.1, BC005255.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2151405,
            SAMEA2153347 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381330.5/ ENSP00000370731.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC005255.1 and BM510748.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000207.2.
            Summary: This gene encodes insulin, a peptide hormone that plays a
            vital role in the regulation of carbohydrate and lipid metabolism.
            After removal of the precursor signal peptide, proinsulin is
            post-translationally cleaved into three peptides: the B chain and A
            chain peptides, which are covalently linked via two disulfide bonds
            to form insulin, and C-peptide. Binding of insulin to the insulin
            receptor (INSR) stimulates glucose uptake. A multitude of mutant
            alleles with phenotypic effects have been identified, including
            insulin-dependent diabetes mellitus, permanent neonatal diabetes
            diabetes mellitus, maturity-onset diabetes of the young type 10 and
            hyperproinsulinemia. There is a read-through gene, INS-IGF2, which
            overlaps with this gene at the 5' region and with the IGF2 gene at
            the 3' region. [provided by RefSeq, May 2020].
            Transcript Variant: This variant (1) represents the shortest
            variant. All variants encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..465
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..465
                     /gene="INS"
                     /gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
                     PNDM4"
                     /note="insulin"
                     /db_xref="GeneID:3630"
                     /db_xref="HGNC:HGNC:6081"
                     /db_xref="MIM:176730"
     CDS             60..392
                     /gene="INS"
                     /gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
                     PNDM4"
                     /note="proinsulin; preproinsulin"
                     /codon_start=1
                     /product="insulin preproprotein"
                     /protein_id="NP_000198.1"
                     /db_xref="CCDS:CCDS7729.1"
                     /db_xref="GeneID:3630"
                     /db_xref="HGNC:HGNC:6081"
                     /db_xref="MIM:176730"
                     /translation="MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGE
                     RGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPLALEGSLQKRGIVEQCCTSICSLYQ
                     LENYCN"
     sig_peptide     60..131
                     /gene="INS"
                     /gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
                     PNDM4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     proprotein      132..389
                     /gene="INS"
                     /gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
                     PNDM4"
                     /product="proinsulin"
     mat_peptide     132..221
                     /gene="INS"
                     /gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
                     PNDM4"
                     /product="insulin B chain"
     mat_peptide     228..320
                     /gene="INS"
                     /gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
                     PNDM4"
                     /product="C-peptide"
     mat_peptide     327..389
                     /gene="INS"
                     /gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
                     PNDM4"
                     /product="insulin A chain"
     regulatory      446..451
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INS"
                     /gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
                     PNDM4"
                     /note="hexamer: AATAAA"
     polyA_site      465
                     /gene="INS"
                     /gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
                     PNDM4"
                     /note="major polyA site"
ORIGIN
        1 agccctccag gacaggctgc atcagaagag gccatcaagc agatcactgt ccttctgcca
       61 tggccctgtg gatgcgcctc ctgcccctgc tggcgctgct ggccctctgg ggacctgacc
      121 cagccgcagc ctttgtgaac caacacctgt gcggctcaca cctggtggaa gctctctacc
      181 tagtgtgcgg ggaacgaggc ttcttctaca cacccaagac ccgccgggag gcagaggacc
      241 tgcaggtggg gcaggtggag ctgggcgggg gccctggtgc aggcagcctg cagcccttgg
      301 ccctggaggg gtccctgcag aagcgtggca ttgtggaaca atgctgtacc agcatctgct
      361 ccctctacca gctggagaac tactgcaact agacgcagcc cgcaggcagc cccacacccg
      421 ccgcctcctg caccgagaga gatggaataa agcccttgaa ccagc
//
LOCUS       NM_000208               9463 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.
ACCESSION   NM_000208
VERSION     NM_000208.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9463)
  AUTHORS   Qin C, Diaz-Gallo LM, Tang B, Wang Y, Nguyen TD, Harder A, Lu Y,
            Padyukov L, Askling J and Hagg S.
  TITLE     Repurposing antidiabetic drugs for rheumatoid arthritis: results
            from a two-sample Mendelian randomization study
  JOURNAL   Eur J Epidemiol 38 (7), 809-819 (2023)
   PUBMED   37052755
  REMARK    GeneRIF: Repurposing antidiabetic drugs for rheumatoid arthritis:
            results from a two-sample Mendelian randomization study.
REFERENCE   2  (bases 1 to 9463)
  AUTHORS   Choi E and Bai XC.
  TITLE     The Activation Mechanism of the Insulin Receptor: A Structural
            Perspective
  JOURNAL   Annu Rev Biochem 92, 247-272 (2023)
   PUBMED   37001136
  REMARK    GeneRIF: The Activation Mechanism of the Insulin Receptor: A
            Structural Perspective. Review article
REFERENCE   3  (bases 1 to 9463)
  AUTHORS   Melkersson K and Persson B.
  TITLE     Associations between heredity, height, BMI, diabetes mellitus type 1
            or 2 and gene variants in the insulin receptor (INSR) gene in
            patients with schizophrenia
  JOURNAL   Neuro Endocrinol Lett 44 (1), 39-54 (2023)
   PUBMED   36931226
  REMARK    GeneRIF: Associations between heredity, height, BMI, diabetes
            mellitus type 1 or 2 and gene variants in the insulin receptor
            (INSR) gene in patients with schizophrenia.
REFERENCE   4  (bases 1 to 9463)
  AUTHORS   Nagao H, Jayavelu AK, Cai W, Pan H, Dreyfuss JM, Batista TM, Brandao
            BB, Mann M and Kahn CR.
  TITLE     Unique ligand and kinase-independent roles of the insulin receptor
            in regulation of cell cycle, senescence and apoptosis
  JOURNAL   Nat Commun 14 (1), 57 (2023)
   PUBMED   36599833
  REMARK    GeneRIF: Unique ligand and kinase-independent roles of the insulin
            receptor in regulation of cell cycle, senescence and apoptosis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 9463)
  AUTHORS   Hubbard SR.
  TITLE     The insulin receptor: both a prototypical and atypical receptor
            tyrosine kinase
  JOURNAL   Cold Spring Harb Perspect Biol 5 (3), a008946 (2013)
   PUBMED   23457259
  REMARK    Review article Publication Status: Online-Only
REFERENCE   6  (bases 1 to 9463)
  AUTHORS   Ben Harouch,S., Klar,A. and Falik Zaccai,T.C.
  TITLE     INSR-Related Severe Syndromic Insulin Resistance
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   29369573
REFERENCE   7  (bases 1 to 9463)
  AUTHORS   Shekels LL, Smith AJ, Van Etten RL and Bernlohr DA.
  TITLE     Identification of the adipocyte acid phosphatase as a PAO-sensitive
            tyrosyl phosphatase
  JOURNAL   Protein Sci 1 (6), 710-721 (1992)
   PUBMED   1304913
REFERENCE   8  (bases 1 to 9463)
  AUTHORS   Cama A, Quon MJ, de la Luz Sierra M and Taylor SI.
  TITLE     Substitution of isoleucine for methionine at position 1153 in the
            beta-subunit of the human insulin receptor. A mutation that impairs
            receptor tyrosine kinase activity, receptor endocytosis, and insulin
            action
  JOURNAL   J Biol Chem 267 (12), 8383-8389 (1992)
   PUBMED   1314826
REFERENCE   9  (bases 1 to 9463)
  AUTHORS   Ullrich,A., Bell,J.R., Chen,E.Y., Herrera,R., Petruzzelli,L.M.,
            Dull,T.J., Gray,A., Coussens,L., Liao,Y.C., Tsubokawa,M. et al.
  TITLE     Human insulin receptor and its relationship to the tyrosine kinase
            family of oncogenes
  JOURNAL   Nature 313 (6005), 756-761 (1985)
   PUBMED   2983222
REFERENCE   10  (bases 1 to 9463)
  AUTHORS   Pedersen,O. and Beck-Nielsen,H.
  TITLE     A study of insulin receptors in human mononuclear leucocytes
  JOURNAL   Acta Endocrinol (Copenh) 83 (3), 556-564 (1976)
   PUBMED   185872
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M10051.1, SRR14038194.2414418.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000302850.10/ ENSP00000303830.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC125387.2, HY015976.1,
            BC117172.1, M10051.1, X02160.1, AC010606.7, AK025527.1 and
            BU684722.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000208.3.
            Summary: This gene encodes a member of the receptor tyrosine kinase
            family of proteins. The encoded preproprotein is proteolytically
            processed to generate alpha and beta subunits that form a
            heterotetrameric receptor. Binding of insulin or other ligands to
            this receptor activates the insulin signaling pathway, which
            regulates glucose uptake and release, as well as the synthesis and
            storage of carbohydrates, lipids and protein. Mutations in this
            gene underlie the inherited severe insulin resistance syndromes
            including type A insulin resistance syndrome, Donohue syndrome and
            Rabson-Mendenhall syndrome. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Oct 2015].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (Long).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..9463
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..9463
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="insulin receptor"
                     /db_xref="GeneID:3643"
                     /db_xref="HGNC:HGNC:6091"
                     /db_xref="MIM:147670"
     misc_feature    464..466
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="upstream in-frame stop codon"
     CDS             524..4672
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /EC_number="2.7.10.1"
                     /note="isoform Long preproprotein is encoded by transcript
                     variant 1; IR"
                     /codon_start=1
                     /product="insulin receptor isoform Long preproprotein"
                     /protein_id="NP_000199.2"
                     /db_xref="CCDS:CCDS12176.1"
                     /db_xref="GeneID:3643"
                     /db_xref="HGNC:HGNC:6091"
                     /db_xref="MIM:147670"
                     /translation="MATGGRRGAAAAPLLVAVAALLLGAAGHLYPGEVCPGMDIRNNLT
                     RLHELENCSVIEGHLQILLMFKTRPEDFRDLSFPKLIMITDYLLLFRVYGLESLKDLFP
                     NLTVIRGSRLFFNYALVIFEMVHLKELGLYNLMNITRGSVRIEKNNELCYLATIDWSRI
                     LDSVEDNYIVLNKDDNEECGDICPGTAKGKTNCPATVINGQFVERCWTHSHCQKVCPTI
                     CKSHGCTAEGLCCHSECLGNCSQPDDPTKCVACRNFYLDGRCVETCPPPYYHFQDWRCV
                     NFSFCQDLHHKCKNSRRQGCHQYVIHNNKCIPECPSGYTMNSSNLLCTPCLGPCPKVCH
                     LLEGEKTIDSVTSAQELRGCTVINGSLIINIRGGNNLAAELEANLGLIEEISGYLKIRR
                     SYALVSLSFFRKLRLIRGETLEIGNYSFYALDNQNLRQLWDWSKHNLTITQGKLFFHYN
                     PKLCLSEIHKMEEVSGTKGRQERNDIALKTNGDQASCENELLKFSYIRTSFDKILLRWE
                     PYWPPDFRDLLGFMLFYKEAPYQNVTEFDGQDACGSNSWTVVDIDPPLRSNDPKSQNHP
                     GWLMRGLKPWTQYAIFVKTLVTFSDERRTYGAKSDIIYVQTDATNPSVPLDPISVSNSS
                     SQIILKWKPPSDPNGNITHYLVFWERQAEDSELFELDYCLKGLKLPSRTWSPPFESEDS
                     QKHNQSEYEDSAGECCSCPKTDSQILKELEESSFRKTFEDYLHNVVFVPRKTSSGTGAE
                     DPRPSRKRRSLGDVGNVTVAVPTVAAFPNTSSTSVPTSPEEHRPFEKVVNKESLVISGL
                     RHFTGYRIELQACNQDTPEERCSVAAYVSARTMPEAKADDIVGPVTHEIFENNVVHLMW
                     QEPKEPNGLIVLYEVSYRRYGDEELHLCVSRKHFALERGCRLRGLSPGNYSVRIRATSL
                     AGNGSWTEPTYFYVTDYLDVPSNIAKIIIGPLIFVFLFSVVIGSIYLFLRKRQPDGPLG
                     PLYASSNPEYLSASDVFPCSVYVPDEWEVSREKITLLRELGQGSFGMVYEGNARDIIKG
                     EAETRVAVKTVNESASLRERIEFLNEASVMKGFTCHHVVRLLGVVSKGQPTLVVMELMA
                     HGDLKSYLRSLRPEAENNPGRPPPTLQEMIQMAAEIADGMAYLNAKKFVHRDLAARNCM
                     VAHDFTVKIGDFGMTRDIYETDYYRKGGKGLLPVRWMAPESLKDGVFTTSSDMWSFGVV
                     LWEITSLAEQPYQGLSNEQVLKFVMDGGYLDQPDNCPERVTDLMRMCWQFNPKMRPTFL
                     EIVNLLKDDLHPSFPEVSFFHSEENKAPESEELEMEFEDMENVPLDRSSHCQREEAGGR
                     DGGSSLGFKRSYEEHIPYTHMNGGKKNGRILTLPRSNPS"
     sig_peptide     524..604
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     605..2797
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /product="Insulin receptor subunit alpha.
                     /id=PRO_0000016687"
                     /note="propagated from UniProtKB/Swiss-Prot (P06213.4)"
     misc_feature    650..652
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16894147,
                     ECO:0000269|PubMed:23302862, ECO:0000269|PubMed:2983222;
                     propagated from UniProtKB/Swiss-Prot (P06213.4);
                     glycosylation site"
     misc_feature    677..679
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16894147,
                     ECO:0000269|PubMed:23302862; propagated from
                     UniProtKB/Swiss-Prot (P06213.4); glycosylation site"
     misc_feature    719..721
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="Insulin-binding. /evidence=ECO:0000305; propagated
                     from UniProtKB/Swiss-Prot (P06213.4); other site"
     misc_feature    836..838
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P06213.4); glycosylation site"
     misc_feature    935..937
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16894147,
                     ECO:0000269|PubMed:23302862; propagated from
                     UniProtKB/Swiss-Prot (P06213.4); glycosylation site"
     misc_feature    1247..1249
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16894147,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:23302862;
                     propagated from UniProtKB/Swiss-Prot (P06213.4);
                     glycosylation site"
     misc_feature    1367..1369
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16894147,
                     ECO:0000269|PubMed:23302862; propagated from
                     UniProtKB/Swiss-Prot (P06213.4); glycosylation site"
     misc_feature    1487..1489
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P06213.4); glycosylation site"
     misc_feature    1613..1615
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16894147; propagated from
                     UniProtKB/Swiss-Prot (P06213.4); glycosylation site"
     misc_feature    1721..1723
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P06213.4); phosphorylation site"
     misc_feature    1724..1726
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P06213.4); phosphorylation site"
     misc_feature    1742..1744
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P06213.4); phosphorylation site"
     misc_feature    1793..1795
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16894147; propagated from
                     UniProtKB/Swiss-Prot (P06213.4); glycosylation site"
     misc_feature    1856..1858
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16894147,
                     ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P06213.4); glycosylation site"
     misc_feature    2144..2146
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:1472036,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P06213.4); glycosylation site"
     misc_feature    2420..2422
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P06213.4); glycosylation site"
     misc_feature    2474..2476
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P06213.4); glycosylation site"
     misc_feature    2579..2647
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="propagated from UniProtKB/Swiss-Prot (P06213.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2615..2617
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P06213.4); glycosylation site"
     misc_feature    2720..2746
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="propagated from UniProtKB/Swiss-Prot (P06213.4);
                     Region: Insulin-binding"
     misc_feature    2759..2821
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="propagated from UniProtKB/Swiss-Prot (P06213.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     2810..4669
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /product="Insulin receptor subunit beta.
                     /id=PRO_0000016689"
                     /note="propagated from UniProtKB/Swiss-Prot (P06213.4)"
     misc_feature    2828..2830
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:2983222; propagated from
                     UniProtKB/Swiss-Prot (P06213.4); glycosylation site"
     misc_feature    2867..2869
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P06213.4); glycosylation site"
     misc_feature    3281..3283
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P06213.4); glycosylation site"
     misc_feature    3320..3322
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P06213.4); glycosylation site"
     misc_feature    3392..3460
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="propagated from UniProtKB/Swiss-Prot (P06213.4);
                     transmembrane region"
     misc_feature    3497..3499
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P06213.4); phosphorylation site"
     misc_feature    3518..3520
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="propagated from UniProtKB/Swiss-Prot (P06213.4);
                     Region: Important for interaction with IRS1, SHC1 and
                     STAT5B. /evidence=ECO:0000269|PubMed:9428692"
     misc_feature    3518..3520
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000305|PubMed:3166375; propagated from
                     UniProtKB/Swiss-Prot (P06213.4); phosphorylation site"
     misc_feature    3554..3556
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P06213.4); phosphorylation site"
     misc_feature    4076..4078
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:14690593,
                     ECO:0000269|PubMed:16246733, ECO:0000269|PubMed:16271887,
                     ECO:0000269|PubMed:18278056, ECO:0000269|PubMed:18767165,
                     ECO:0000269|PubMed:3166375, ECO:0000269|PubMed:9312016;
                     propagated from UniProtKB/Swiss-Prot (P06213.4);
                     phosphorylation site"
     misc_feature    4088..4090
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:14690593,
                     ECO:0000269|PubMed:16246733, ECO:0000269|PubMed:16271887,
                     ECO:0000269|PubMed:18278056, ECO:0000269|PubMed:18767165,
                     ECO:0000269|PubMed:3166375, ECO:0000269|PubMed:9312016;
                     propagated from UniProtKB/Swiss-Prot (P06213.4);
                     phosphorylation site"
     misc_feature    4091..4093
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:14690593,
                     ECO:0000269|PubMed:16246733, ECO:0000269|PubMed:16271887,
                     ECO:0000269|PubMed:18278056, ECO:0000269|PubMed:18767165,
                     ECO:0000269|PubMed:3166375, ECO:0000269|PubMed:9312016;
                     propagated from UniProtKB/Swiss-Prot (P06213.4);
                     phosphorylation site"
     misc_feature    4586..4588
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000305|PubMed:3166375; propagated from
                     UniProtKB/Swiss-Prot (P06213.4); phosphorylation site"
     misc_feature    4601..4669
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="propagated from UniProtKB/Swiss-Prot (P06213.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4604..4615
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="propagated from UniProtKB/Swiss-Prot (P06213.4);
                     Region: PIK3R1-binding"
     misc_feature    4604..4606
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000305|PubMed:3166375; propagated from
                     UniProtKB/Swiss-Prot (P06213.4); phosphorylation site"
     regulatory      9443..9448
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="hexamer: ATTAAA"
     polyA_site      9463
                     /gene="INSR"
                     /gene_synonym="CD220; HHF5"
                     /note="major polyA site"
ORIGIN
        1 agatccgcgc cgccttttcc cgcggcccgc acggggccca gctgacgggc cgcgttgttt
       61 acgggcccga gcagccctct ctcccgccgc ccgcccgcca cccgccagcc caggtgcccg
      121 cccgccagtc agctagtccg tcggtccgcg cgtccctctg tcccggagcc cgcagatcgc
      181 gacccagagc gcgcggggcc gagagccgag agacagtccc gggcgcagcg cggagctccg
      241 ggccccgaga tcctgggacg gggcccgggc cgcagcggcc ggggggtcgg ggccaccacc
      301 gcaagggcct ccgctcagta tttgtagctg gcgaagccgc gcgcgccctt cccggggctg
      361 cctctgggcc ctccccggca ggggggctgc ggcccgcggg tcgcgggcgt ggaagagaag
      421 gacgcgcggc ccccagcgcc tcttgggtgg ccgcctcgga gcatgacccc cgcgggccag
      481 cgccgcgcgc tctgatccga ggagaccccg cgctcccgca gccatggcca ccgggggccg
      541 gcggggggcg gcggccgcgc cgctgctggt ggcggtggcc gcgctgctac tgggcgccgc
      601 gggccacctg taccccggag aggtgtgtcc cggcatggat atccggaaca acctcactag
      661 gttgcatgag ctggagaatt gctctgtcat cgaaggacac ttgcagatac tcttgatgtt
      721 caaaacgagg cccgaagatt tccgagacct cagtttcccc aaactcatca tgatcactga
      781 ttacttgctg ctcttccggg tctatgggct cgagagcctg aaggacctgt tccccaacct
      841 cacggtcatc cggggatcac gactgttctt taactacgcg ctggtcatct tcgagatggt
      901 tcacctcaag gaactcggcc tctacaacct gatgaacatc acccggggtt ctgtccgcat
      961 cgagaagaac aatgagctct gttacttggc cactatcgac tggtcccgta tcctggattc
     1021 cgtggaggat aattacatcg tgttgaacaa agatgacaac gaggagtgtg gagacatctg
     1081 tccgggtacc gcgaagggca agaccaactg ccccgccacc gtcatcaacg ggcagtttgt
     1141 cgaacgatgt tggactcata gtcactgcca gaaagtttgc ccgaccatct gtaagtcaca
     1201 cggctgcacc gccgaaggcc tctgttgcca cagcgagtgc ctgggcaact gttctcagcc
     1261 cgacgacccc accaagtgcg tggcctgccg caacttctac ctggacggca ggtgtgtgga
     1321 gacctgcccg cccccgtact accacttcca ggactggcgc tgtgtgaact tcagcttctg
     1381 ccaggacctg caccacaaat gcaagaactc gcggaggcag ggctgccacc agtacgtcat
     1441 tcacaacaac aagtgcatcc ctgagtgtcc ctccgggtac acgatgaatt ccagcaactt
     1501 gctgtgcacc ccatgcctgg gtccctgtcc caaggtgtgc cacctcctag aaggcgagaa
     1561 gaccatcgac tcggtgacgt ctgcccagga gctccgagga tgcaccgtca tcaacgggag
     1621 tctgatcatc aacattcgag gaggcaacaa tctggcagct gagctagaag ccaacctcgg
     1681 cctcattgaa gaaatttcag ggtatctaaa aatccgccga tcctacgctc tggtgtcact
     1741 ttccttcttc cggaagttac gtctgattcg aggagagacc ttggaaattg ggaactactc
     1801 cttctatgcc ttggacaacc agaacctaag gcagctctgg gactggagca aacacaacct
     1861 caccatcact caggggaaac tcttcttcca ctataacccc aaactctgct tgtcagaaat
     1921 ccacaagatg gaagaagttt caggaaccaa ggggcgccag gagagaaacg acattgccct
     1981 gaagaccaat ggggaccagg catcctgtga aaatgagtta cttaaatttt cttacattcg
     2041 gacatctttt gacaagatct tgctgagatg ggagccgtac tggccccccg acttccgaga
     2101 cctcttgggg ttcatgctgt tctacaaaga ggccccttat cagaatgtga cggagttcga
     2161 cgggcaggat gcgtgtggtt ccaacagttg gacggtggta gacattgacc cacccctgag
     2221 gtccaacgac cccaaatcac agaaccaccc agggtggctg atgcggggtc tcaagccctg
     2281 gacccagtat gccatctttg tgaagaccct ggtcaccttt tcggatgaac gccggaccta
     2341 tggggccaag agtgacatca tttatgtcca gacagatgcc accaacccct ctgtgcccct
     2401 ggatccaatc tcagtgtcta actcatcatc ccagattatt ctgaagtgga aaccaccctc
     2461 cgaccccaat ggcaacatca cccactacct ggttttctgg gagaggcagg cggaagacag
     2521 tgagctgttc gagctggatt attgcctcaa agggctgaag ctgccctcga ggacctggtc
     2581 tccaccattc gagtctgaag attctcagaa gcacaaccag agtgagtatg aggattcggc
     2641 cggcgaatgc tgctcctgtc caaagacaga ctctcagatc ctgaaggagc tggaggagtc
     2701 ctcgtttagg aagacgtttg aggattacct gcacaacgtg gttttcgtcc ccagaaaaac
     2761 ctcttcaggc actggtgccg aggaccctag gccatctcgg aaacgcaggt cccttggcga
     2821 tgttgggaat gtgacggtgg ccgtgcccac ggtggcagct ttccccaaca cttcctcgac
     2881 cagcgtgccc acgagtccgg aggagcacag gccttttgag aaggtggtga acaaggagtc
     2941 gctggtcatc tccggcttgc gacacttcac gggctatcgc atcgagctgc aggcttgcaa
     3001 ccaggacacc cctgaggaac ggtgcagtgt ggcagcctac gtcagtgcga ggaccatgcc
     3061 tgaagccaag gctgatgaca ttgttggccc tgtgacgcat gaaatctttg agaacaacgt
     3121 cgtccacttg atgtggcagg agccgaagga gcccaatggt ctgatcgtgc tgtatgaagt
     3181 gagttatcgg cgatatggtg atgaggagct gcatctctgc gtctcccgca agcacttcgc
     3241 tctggaacgg ggctgcaggc tgcgtgggct gtcaccgggg aactacagcg tgcgaatccg
     3301 ggccacctcc cttgcgggca acggctcttg gacggaaccc acctatttct acgtgacaga
     3361 ctatttagac gtcccgtcaa atattgcaaa aattatcatc ggccccctca tctttgtctt
     3421 tctcttcagt gttgtgattg gaagtattta tctattcctg agaaagaggc agccagatgg
     3481 gccgctggga ccgctttacg cttcttcaaa ccctgagtat ctcagtgcca gtgatgtgtt
     3541 tccatgctct gtgtacgtgc cggacgagtg ggaggtgtct cgagagaaga tcaccctcct
     3601 tcgagagctg gggcagggct ccttcggcat ggtgtatgag ggcaatgcca gggacatcat
     3661 caagggtgag gcagagaccc gcgtggcggt gaagacggtc aacgagtcag ccagtctccg
     3721 agagcggatt gagttcctca atgaggcctc ggtcatgaag ggcttcacct gccatcacgt
     3781 ggtgcgcctc ctgggagtgg tgtccaaggg ccagcccacg ctggtggtga tggagctgat
     3841 ggctcacgga gacctgaaga gctacctccg ttctctgcgg ccagaggctg agaataatcc
     3901 tggccgccct ccccctaccc ttcaagagat gattcagatg gcggcagaga ttgctgacgg
     3961 gatggcctac ctgaacgcca agaagtttgt gcatcgggac ctggcagcga gaaactgcat
     4021 ggtcgcccat gattttactg tcaaaattgg agactttgga atgaccagag acatctatga
     4081 aacggattac taccggaaag ggggcaaggg tctgctccct gtacggtgga tggcaccgga
     4141 gtccctgaag gatggggtct tcaccacttc ttctgacatg tggtcctttg gcgtggtcct
     4201 ttgggaaatc accagcttgg cagaacagcc ttaccaaggc ctgtctaatg aacaggtgtt
     4261 gaaatttgtc atggatggag ggtatctgga tcaacccgac aactgtccag agagagtcac
     4321 tgacctcatg cgcatgtgct ggcaattcaa ccccaagatg aggccaacct tcctggagat
     4381 tgtcaacctg ctcaaggacg acctgcaccc cagctttcca gaggtgtcgt tcttccacag
     4441 cgaggagaac aaggctcccg agagtgagga gctggagatg gagtttgagg acatggagaa
     4501 tgtgcccctg gaccgttcct cgcactgtca gagggaggag gcggggggcc gggatggagg
     4561 gtcctcgctg ggtttcaagc ggagctacga ggaacacatc ccttacacac acatgaacgg
     4621 aggcaagaaa aacgggcgga ttctgacctt gcctcggtcc aatccttcct aacagtgcct
     4681 accgtggcgg gggcgggcag gggttcccat tttcgctttc ctctggtttg aaagcctctg
     4741 gaaaactcag gattctcacg actctaccat gtccaatgga gttcagagat cgttcctata
     4801 catttctgtt catcttaagg tggactcgtt tggttaccaa tttaactagt cctgcagagg
     4861 atttaactgt gaacctggag ggcaaggggt ttccacagtt gctgctcctt tggggcaacg
     4921 acggtttcaa accaggattt tgtgtttttt cgttcccccc acccgccccc agcagatgga
     4981 aagaaagcac ctgtttttac aaattctttt tttttttttt tttttttgct ggtgtctgag
     5041 cttcagtata aaagacaaaa cttcctgttt gtggaacaaa agttcgaaag aaaaaacaaa
     5101 acaaaaacac ccagccctgt tccaggagaa tttcaagttt tacaggttga gcttcaagat
     5161 ggtttttttg gttttttttt tttctctcat ccaggctgaa ggattttttt tttctttaca
     5221 aaatgagttc ctcaaattga ccaatagctg ctgctttcat attttggata agggtctgtg
     5281 gtcccggcgt gtgctcacgt gtgtatgcac gtgtgtgtgt ccattagaca cggctgatgt
     5341 gtgtgcaaag tatccatgcg gagttgatgc tttgggaatt ggctcatgaa ggttcttctc
     5401 aagggtgcga gctcatcccc ctctctcctt ccttcttatt gactgggaga ctgtgctctc
     5461 gacagattct tcttgtgtca gaagtctagc ctcaggtttc taccctccct tcacattggt
     5521 ggccaaggga ggagcatttc atttggagtg attatgaatc ttttcaagac caaaccaagc
     5581 taggacatta aaaaaaaaaa aagaaaaaga aagaaaaaac aaaatggaaa aaggaaaaaa
     5641 aaaaagaact gagatgacag agttttgaga atatatttgt accatattta atttttaaag
     5701 tctctggtat tagcctcata agttattgac tattccccgg ggttggcggg gagtggggac
     5761 atgagttggt ctgcctgttg tggggccggg aaggggaggg agtcaggcac aagtggcctc
     5821 tttgtttggt cttaaaggca tccatttctg ggaatgaagc catgttcgct gctaacactt
     5881 ttggatgttg tgaggccacg tggagtgtgt gagagactag gttttatgga tggtctggtt
     5941 caggtaccag gtctgctgga aggttcctgt tcggataagc tggtagctac ctagctctga
     6001 gcctgccttc aagaacacct gtgttcatcc tctgattctc tgtgtgtacc tcttgtggcg
     6061 tttcctctcc cgggtgtgaa catcctaacc gttattgtgc aaacccaaga acgtcagatc
     6121 ccaaagcaca acaacctgga tggactttgg gaacatctaa gcaatgtaag agagaggtgc
     6181 actgagagta cgtcttggtc ccctccaccc tgagagcatc tgacggtcct cagtactgaa
     6241 ctcccggaag ctgctctgag cccggtgacc tcatctgggc caggtgtggt gcctgagctg
     6301 aatgctcagg tgcttacagt gttgcaatcc ctaagagagt agagtctgga ggagaaaccg
     6361 tgaaaaagac cttacacacc accaagaact tccgaatggg cgtgaatcca ccgtttcttc
     6421 tctttgcaaa aagaaccacc acagctgctc aaagaacaca gtgaactcat cactttggtt
     6481 catcaaaaaa tcatcgccca tgcgttattc ctgagtgcat tttcttacaa ctttttgact
     6541 gcttcctttt cttcttctct taagagttgt gggcttaaga atgggataga gtcataatgg
     6601 caacctccaa gccctctcaa ttcttgatta agaacacagg tagacatgaa tcccaattgt
     6661 ctattgctat cttatttata tgattcggga aaatacagca tgtaaaaata ttgctgagga
     6721 gcctcagtga ttgggtacaa gaagcaagag tacagaaatt atttttgcca aatttatttt
     6781 gtaaatatga gggtctgtac ctaaatttaa aaaaaaaaca cgtagaacta ggtattttgt
     6841 tctcttctta gtaaatttgt agtggttgta tactacacta gctgcaattt tcacattttt
     6901 ctaattcaga aaggtttttc ttatattagg ggaaaaagta tttattttaa tatataaaat
     6961 cactctgaaa atcactctca taaaaaatgg agcgcatgta aatttttatc aaagaaaaat
     7021 aaacaggtga atgggggata gtgattttct tttttcagca cagtctacct cagtgtattg
     7081 ttaagatgtg attcaatcat ggacatcttt gagatttcag aattctacct ggaaccggtc
     7141 tgaatcaggg aacgtgtgta tcagctgatt cgaatgccag ggaccagtaa gaattttgag
     7201 ggagggagtt gggatggaga aggtatggcc tttatgcgag catagatcct tttcttcctg
     7261 gctggtaata ttcttctctg aatttaatct tcctttaaaa aaaaatcctc catctattgt
     7321 cactatgttc cccaaacata aactaagttc caggctgtca tgatgtatct gatatatggg
     7381 gtaacccagc aaggtgtacc ttcctttggt gagagatggc tgccggggca aagacgggct
     7441 ttgattcaga gcaagcattc ccacctgttc catggaatcc ccctgaagtg agcacaaagg
     7501 tgccctgggc tccctgatgg tttatgccca ctcctttcag gctggtgatg caccttacac
     7561 acaaacacct aatgcaatgt ctttttaaat tctccaagtg ggatgggagc atgtgaggga
     7621 aattccaatc caaaacccat taatgtgctg aacgcttttt tttttttttt tttttttttt
     7681 gcaacaacac cttggacctc tgtgttgggg tttgactgac ctcaagctga tattattgga
     7741 ccttgtgcag ctttgataac ccatgtgaga gtctaggcag gaccagtggg gcccaaatct
     7801 tgctgctctt gtacttttag gcactgccct tgcagactca cctttctcca cctgccctgg
     7861 agaaaggtag ggtgtgctgg gcctgcccct tgcaaatggg attcaccagt ttcatttatt
     7921 tgactctact gccacagtga aaagagcaaa cagctattgg gttgcaaacc tcctttgaca
     7981 ttaggaaatg ttgactttgt aacaataaaa ctttggtcct agaaagacac ggttgtcctg
     8041 ggagtttgta gtgttaagtt gcaacaacaa caacaaaaag caacaaaacc agcttaggat
     8101 aacacttttt gttgcttgtt cttaaagatg tctcactatg attaaaaccc ttttcattaa
     8161 tgtagtgaaa gccacacagg agttccttct tccaggagga gaataccaag cacatcactt
     8221 tctctctgca tcagtgatgt caaatacgca tcagaaaatg ttcaggtttt aggagctgtc
     8281 ctaggtgctg tttcatcatt ggaagcagtg agaaagagaa gcactgctgc ttgtctggat
     8341 ataggctgag gatgattgag agaagctgtg ggaactgaca caagggtctg cataggtcat
     8401 cctgtgaccc tggggactat gttaccaact gacagacaga tctttcactg tatcctagca
     8461 gggcaggtag tccaccaaga aatgtgctta ttggattggg aggtgtttat ttgtagtctg
     8521 ctgtaacacg tgtgaaagag caggagcgtc atcagcatat gacttgcgct ggtcatccgg
     8581 taaatggatg tgctgtagtc ccagtgctaa tcatttctct ccttcacagt gggtggaagt
     8641 ttagggttaa atgtcctttg aatgtcacct ggtgagtcct tgacacctta ggctcttcag
     8701 aaacaatggt tttgttgagg atggggaaca gggaatgccg attttatata catggtacac
     8761 agagaggggt gtcacttcag aaaatcttcc agcatgttct tcagaatatt aatttatatg
     8821 cgaggtgagg ttgggaatga aaagaacagg tcagcacttt tttttttcct agaacataca
     8881 aaagaacatg gtggactttc agggagtgca atggaaggtg aatatttcct taagggtccc
     8941 cgagaaatgg gagtgagggg aggggacaca atggcttttt gagcttactt ttaccttctg
     9001 atactagtca aggtccagaa ccagccacca gccaaatttc tatctgggtg cgggccactg
     9061 aaaatccttg ttaaaaacca gatcacaaat ctggggctct tggtcccatt ggagaaggaa
     9121 ggaagagcct caaaataagt gtgcacccat gcacatattc aggaacagct tgtttagtct
     9181 ttacactttg cctgaaagtt gcttctcctc gtccctttgt gtgcctgggt ggcctcggcc
     9241 ctgtgcgttg gcaacgcagg atcaaatgtg ctgcagcttt tgcagaaaac aactcagaaa
     9301 cacaaaaccc cccaacagct caattattat tttttcaatg ttttcctaca agagccaagt
     9361 agcaccatgt acagaagacg cctttttttt tggaatattg aaatcgttct gcatgtaaaa
     9421 tatgggataa tgacctgttt atattaaaat tctgattaaa tta
//
LOCUS       NM_000209               2603 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens pancreatic and duodenal homeobox 1 (PDX1), mRNA.
ACCESSION   NM_000209
VERSION     NM_000209.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2603)
  AUTHORS   Wakabayashi Y, Miyatsuka T, Miura M, Himuro M, Taguchi T, Iida H,
            Nishida Y, Fujitani Y and Watada H.
  TITLE     STAT3 suppression and beta-cell ablation enhance alpha-to-beta
            reprogramming mediated by Pdx1
  JOURNAL   Sci Rep 12 (1), 21419 (2022)
   PUBMED   36496541
  REMARK    GeneRIF: STAT3 suppression and beta-cell ablation enhance
            alpha-to-beta reprogramming mediated by Pdx1. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2603)
  AUTHORS   Usher ET and Showalter SA.
  TITLE     Biophysical insights into glucose-dependent transcriptional
            regulation by PDX1
  JOURNAL   J Biol Chem 298 (12), 102623 (2022)
   PUBMED   36272648
  REMARK    GeneRIF: Biophysical insights into glucose-dependent transcriptional
            regulation by PDX1. Review article
REFERENCE   3  (bases 1 to 2603)
  AUTHORS   Okura T, Nakamura R, Ito Y, Kitao S, Anno M, Endo S, Taneda N,
            Matsumoto K, Shoji K, Okura H, Matsuzawa K, Izawa S, Ueta E, Kato M,
            Imamura T, Taniguchi SI and Yamamoto K.
  TITLE     Significance of pancreatic duodenal homeobox-1 (PDX-1) genetic
            polymorphism in insulin secretion in Japanese patients with type 2
            diabetes
  JOURNAL   BMJ Open Diabetes Res Care 10 (5) (2022)
   PUBMED   36718853
  REMARK    GeneRIF: Significance of pancreatic duodenal homeobox-1 (PDX-1)
            genetic polymorphism in insulin secretion in Japanese patients with
            type 2 diabetes.
REFERENCE   4  (bases 1 to 2603)
  AUTHORS   Jeong MG, Kim HK, Lee G, Won HY, Yoon DH and Hwang ES.
  TITLE     TAZ promotes PDX1-mediated insulinogenesis
  JOURNAL   Cell Mol Life Sci 79 (3), 186 (2022)
   PUBMED   35279781
  REMARK    GeneRIF: TAZ promotes PDX1-mediated insulinogenesis. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 2603)
  AUTHORS   Waeber G, Thompson N, Nicod P and Bonny C.
  TITLE     Transcriptional activation of the GLUT2 gene by the
            IPF-1/STF-1/IDX-1 homeobox factor
  JOURNAL   Mol Endocrinol 10 (11), 1327-1334 (1996)
   PUBMED   8923459
REFERENCE   6  (bases 1 to 2603)
  AUTHORS   Inoue H, Riggs AC, Tanizawa Y, Ueda K, Kuwano A, Liu L, Donis-Keller
            H and Permutt MA.
  TITLE     Isolation, characterization, and chromosomal mapping of the human
            insulin promoter factor 1 (IPF-1) gene
  JOURNAL   Diabetes 45 (6), 789-794 (1996)
   PUBMED   8635654
REFERENCE   7  (bases 1 to 2603)
  AUTHORS   Stoffel M, Stein R, Wright CV, Espinosa R 3rd, Le Beau MM and Bell
            GI.
  TITLE     Localization of human homeodomain transcription factor insulin
            promoter factor 1 (IPF1) to chromosome band 13q12.1
  JOURNAL   Genomics 28 (1), 125-126 (1995)
   PUBMED   7590740
REFERENCE   8  (bases 1 to 2603)
  AUTHORS   Leonard J, Peers B, Johnson T, Ferreri K, Lee S and Montminy MR.
  TITLE     Characterization of somatostatin transactivating factor-1, a novel
            homeobox factor that stimulates somatostatin expression in
            pancreatic islet cells
  JOURNAL   Mol Endocrinol 7 (10), 1275-1283 (1993)
   PUBMED   7505393
REFERENCE   9  (bases 1 to 2603)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   29792621
REFERENCE   10  (bases 1 to 2603)
  AUTHORS   De Leon,D.D. and Stanley,C.A.
  TITLE     Permanent Neonatal Diabetes Mellitus
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301620
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X99894.1, U30329.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381033.5/ ENSP00000370421.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL353195.14, CA848737.1 and
            U30329.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000209.3.
            Summary: The protein encoded by this gene is a transcriptional
            activator of several genes, including insulin, somatostatin,
            glucokinase, islet amyloid polypeptide, and glucose transporter
            type 2. The encoded nuclear protein is involved in the early
            development of the pancreas and plays a major role in
            glucose-dependent regulation of insulin gene expression. Defects in
            this gene are a cause of pancreatic agenesis, which can lead to
            early-onset insulin-dependent diabetes mellitus (IDDM), as well as
            maturity onset diabetes of the young type 4 (MODY4). [provided by
            RefSeq, Aug 2017].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2603
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.2"
     gene            1..2603
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="pancreatic and duodenal homeobox 1"
                     /db_xref="GeneID:3651"
                     /db_xref="HGNC:HGNC:6107"
                     /db_xref="MIM:600733"
     CDS             140..991
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="pancreatic-duodenal homeobox factor 1; somatostatin
                     transcription factor 1; insulin promoter factor 1,
                     homeodomain transcription factor; insulin upstream factor
                     1; glucose-sensitive factor; IPF-1; IUF-1; islet/duodenum
                     homeobox-1; somatostatin-transactivating factor 1"
                     /codon_start=1
                     /product="pancreas/duodenum homeobox protein 1"
                     /protein_id="NP_000200.1"
                     /db_xref="CCDS:CCDS9327.1"
                     /db_xref="GeneID:3651"
                     /db_xref="HGNC:HGNC:6107"
                     /db_xref="MIM:600733"
                     /translation="MNGEEQYYAATQLYKDPCAFQRGPAPEFSASPPACLYMGRQPPPP
                     PPHPFPGALGALEQGSPPDISPYEVPPLADDPAVAHLHHHLPAQLALPHPPAGPFPEGA
                     EPGVLEEPNRVQLPFPWMKSTKAHAWKGQWAGGAYAAEPEENKRTRTAYTRAQLLELEK
                     EFLFNKYISRPRRVELAVMLNLTERHIKIWFQNRRMKWKKEEDKKRGGGTAVGGGGVAE
                     PEQDCAVTSGEELLALPPPPPPGGAVPPAAPVAAREGRLPPGLSASPQPSSVAPRRPQE
                     PR"
     misc_feature    176..358
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="propagated from UniProtKB/Swiss-Prot (P52945.1);
                     Region: Transactivation domain. /evidence=ECO:0000250"
     misc_feature    239..352
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="propagated from UniProtKB/Swiss-Prot (P52945.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    491..508
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="propagated from UniProtKB/Swiss-Prot (P52945.1);
                     Region: Antp-type hexapeptide"
     misc_feature    590..592
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="Phosphothreonine, by PASK.
                     /evidence=ECO:0000250|UniProtKB:P52946; propagated from
                     UniProtKB/Swiss-Prot (P52945.1); phosphorylation site"
     misc_feature    728..748
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="propagated from UniProtKB/Swiss-Prot (P52945.1);
                     Region: Nuclear localization signal. /evidence=ECO:0000250"
     misc_feature    740..988
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="propagated from UniProtKB/Swiss-Prot (P52945.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    941..943
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="Phosphoserine, by HIPK2.
                     /evidence=ECO:0000269|PubMed:20637728; propagated from
                     UniProtKB/Swiss-Prot (P52945.1); phosphorylation site"
     regulatory      2485..2490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="hexamer: AATAAA"
     polyA_site      2517
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="major polyA site"
     regulatory      2581..2586
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="hexamer: ATTAAA"
     polyA_site      2603
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
ORIGIN
        1 gagatcagtg cggagctgtc aaagcgagca ggggtggcgc cgggagtggg aacgccacac
       61 agtgccaaat ccccggctcc agctcccgac tcccggctcc cggctcccgg ctcccggtgc
      121 ccaatcccgg gccgcagcca tgaacggcga ggagcagtac tacgcggcca cgcagcttta
      181 caaggaccca tgcgcgttcc agcgaggccc ggcgccggag ttcagcgcca gcccccctgc
      241 gtgcctgtac atgggccgcc agcccccgcc gccgccgccg cacccgttcc ctggcgccct
      301 gggcgcgctg gagcagggca gccccccgga catctccccg tacgaggtgc cccccctcgc
      361 cgacgacccc gcggtggcgc accttcacca ccacctcccg gctcagctcg cgctccccca
      421 cccgcccgcc gggcccttcc cggagggagc cgagccgggc gtcctggagg agcccaaccg
      481 cgtccagctg cctttcccat ggatgaagtc taccaaagct cacgcgtgga aaggccagtg
      541 ggcaggcggc gcctacgctg cggagccgga ggagaacaag cggacgcgca cggcctacac
      601 gcgcgcacag ctgctagagc tggagaagga gttcctattc aacaagtaca tctcacggcc
      661 gcgccgggtg gagctggctg tcatgttgaa cttgaccgag agacacatca agatctggtt
      721 ccaaaaccgc cgcatgaagt ggaaaaagga ggaggacaag aagcgcggcg gcgggacagc
      781 tgtcgggggt ggcggggtcg cggagcctga gcaggactgc gccgtgacct ccggcgagga
      841 gcttctggcg ctgccgccgc cgccgccccc cggaggtgct gtgccgcccg ctgcccccgt
      901 tgccgcccga gagggccgcc tgccgcctgg ccttagcgcg tcgccacagc cctccagcgt
      961 cgcgcctcgg cggccgcagg aaccacgatg agaggcagga gctgctcctg gctgaggggc
     1021 ttcaaccact cgccgaggag gagcagaggg cctaggagga ccccgggcgt ggaccacccg
     1081 ccctggcagt tgaatggggc ggcaattgcg gggcccacct tagaccgaag gggaaaaccc
     1141 gctctctcag gcgcatgtgc cagttggggc cccgcgggta gatgccggca ggccttccgg
     1201 aagaaaaaga gccattggtt tttgtagtat tggggccctc ttttagtgat actggattgg
     1261 cgttgtttgt ggctgttgcg cacatccctg ccctcctaca gcactccacc ttgggacctg
     1321 tttagagaag ccggctcttc aaagacaatg gaaactgtac catacacatt ggaaggctcc
     1381 ctaacacaca cagcggggaa gctgggccga gtaccttaat ctgccataaa gccattctta
     1441 ctcgggcgac ccctttaagt ttagaaataa ttgaaaggaa atgtttgagt tttcaaagat
     1501 cccgtgaaat tgatgccagt ggaatacagt gagtcctcct cttcctcctc ctcctcttcc
     1561 ccctcccctt cctcctcctc ctcttctttt ccctcctctt cctcttcctc ctgctctcct
     1621 ttcctccccc tcctcttttc cctcctcttc ctcttcctcc tgctctcctt tcctccccct
     1681 cctctttctc ctcctcctcc tcttcttccc cctcctctcc ctcctcctct tcttccccct
     1741 cctctccctc ctcctcttct tctccctcct cttcctcttc ctcctcttcc acgtgctctc
     1801 ctttcctccc cctcctcttg ctccccttct tccccgtcct cttcctcctc ctcctcttct
     1861 tctccctcct cttcctcctc ctctttcttc ctgacctctt tctttctcct cctcctcctt
     1921 ctacctcccc ttctcatccc tcctcttcct cttctctagc tgcacacttc actactgcac
     1981 atcttataac ttgcacccct ttcttctgag gaagagaaca tcttgcaagg cagggcgagc
     2041 agcggcaggg ctggcttagg agcagtgcaa gagtccctgt gctccagttc cacactgctg
     2101 gcagggaagg caagggggga cgggcctgga tctgggggtg agggagaaag atggacccct
     2161 gggtgaccac taaaccaaag atattcggaa ctttctattt aggatgtgga cgtaattcct
     2221 gttccgaggt agaggctgtg ctgaagacaa gcacagtggc ctggtgcgcc ttggaaacca
     2281 acaactattc acgagccagt atgaccttca catctttaga aattatgaaa acgtatgtga
     2341 ttggagggtt tggaaaacca gttatcttat ttaacatttt aaaaattacc taacagttat
     2401 ttacaaacag gtctgtgcat cccaggtctg tcttcttttc aaggtctggg ccttgtgctc
     2461 gggttatgtt tgtgggaaat gcttaataaa tactgataat atgggaagag atgaaaactg
     2521 attctcctca ctttgtttca aacctttctg gcagtgggat gattcgaatt cacttttaaa
     2581 attaaattag cgtgttttgt ttt
//
LOCUS       NM_000210               5816 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens integrin subunit alpha 6 (ITGA6), transcript variant 2,
            mRNA.
ACCESSION   NM_000210
VERSION     NM_000210.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5816)
  AUTHORS   Zhang C, Cai Q and Ke J.
  TITLE     Poor Prognosis of Oral Squamous Cell Carcinoma Correlates With ITGA6
  JOURNAL   Int Dent J 73 (2), 178-185 (2023)
   PUBMED   35820930
  REMARK    GeneRIF: Poor Prognosis of Oral Squamous Cell Carcinoma Correlates
            With ITGA6.
REFERENCE   2  (bases 1 to 5816)
  AUTHORS   Zheng G, Bouamar H, Cserhati M, Zeballos CR, Mehta I, Zare H, Broome
            L, Hu R, Lai Z, Chen Y, Sharkey FE, Rani M, Halff GA, Cigarroa FG
            and Sun LZ.
  TITLE     Integrin alpha 6 is upregulated and drives hepatocellular carcinoma
            progression through integrin alpha6beta4 complex
  JOURNAL   Int J Cancer 151 (6), 930-943 (2022)
   PUBMED   35657344
  REMARK    GeneRIF: Integrin alpha 6 is upregulated and drives hepatocellular
            carcinoma progression through integrin alpha6beta4 complex.
REFERENCE   3  (bases 1 to 5816)
  AUTHORS   Hou S, Hao X, Li J, Weng S, Wang J, Zhao T, Li W, Hu X, Deng B, Gu J
            and Hang Q.
  TITLE     TM4SF1 promotes esophageal squamous cell carcinoma metastasis by
            interacting with integrin alpha6
  JOURNAL   Cell Death Dis 13 (7), 609 (2022)
   PUBMED   35835740
  REMARK    GeneRIF: TM4SF1 promotes esophageal squamous cell carcinoma
            metastasis by interacting with integrin alpha6. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 5816)
  AUTHORS   Humphries JD, Zha J, Burns J, Askari JA, Below CR, Chastney MR,
            Jones MC, Mironov A, Knight D, O'Reilly DA, Dunne MJ, Garrod DR,
            Jorgensen C and Humphries MJ.
  TITLE     Pancreatic ductal adenocarcinoma cells employ integrin alpha6beta4
            to form hemidesmosomes and regulate cell proliferation
  JOURNAL   Matrix Biol 110, 16-39 (2022)
   PUBMED   35405272
  REMARK    GeneRIF: Pancreatic ductal adenocarcinoma cells employ integrin
            alpha6beta4 to form hemidesmosomes and regulate cell proliferation.
REFERENCE   5  (bases 1 to 5816)
  AUTHORS   Stewart RL and O'Connor KL.
  TITLE     Clinical significance of the integrin alpha6beta4 in human
            malignancies
  JOURNAL   Lab Invest 95 (9), 976-986 (2015)
   PUBMED   26121317
  REMARK    Review article
REFERENCE   6  (bases 1 to 5816)
  AUTHORS   Lucky,A.W. and Gorell,E.
  TITLE     Epidermolysis Bullosa with Pyloric Atresia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301336
REFERENCE   7  (bases 1 to 5816)
  AUTHORS   Starr L and Quaranta V.
  TITLE     An efficient and reliable method for cloning PCR-amplification
            products: a survey of point mutations in integrin cDNA
  JOURNAL   Biotechniques 13 (4), 612-618 (1992)
   PUBMED   1476731
REFERENCE   8  (bases 1 to 5816)
  AUTHORS   Tamura RN, Cooper HM, Collo G and Quaranta V.
  TITLE     Cell type-specific integrin variants with alternative alpha chain
            cytoplasmic domains
  JOURNAL   Proc Natl Acad Sci U S A 88 (22), 10183-10187 (1991)
   PUBMED   1946438
REFERENCE   9  (bases 1 to 5816)
  AUTHORS   Hogervorst F, Kuikman I, van Kessel AG and Sonnenberg A.
  TITLE     Molecular cloning of the human alpha 6 integrin subunit. Alternative
            splicing of alpha 6 mRNA and chromosomal localization of the alpha 6
            and beta 4 genes
  JOURNAL   Eur J Biochem 199 (2), 425-433 (1991)
   PUBMED   2070796
REFERENCE   10  (bases 1 to 5816)
  AUTHORS   Tamura RN, Rozzo C, Starr L, Chambers J, Reichardt LF, Cooper HM and
            Quaranta V.
  TITLE     Epithelial integrin alpha 6 beta 4: complete primary structure of
            alpha 6 and variant forms of beta 4
  JOURNAL   J Cell Biol 111 (4), 1593-1604 (1990)
   PUBMED   1976638
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.11490.1,
            SRR1803611.34364.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000684293.1/ ENSP00000508249.1
            RefSeq Select criteria      :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB457895.1, X53586.1, X59512.1,
            AB208842.1, BG180469.1 and AC078883.6.
            This sequence is a reference standard in the RefSeqGene project.
            On May 31, 2019 this sequence version replaced NM_000210.3.
            Summary: The gene encodes a member of the integrin alpha chain
            family of proteins. Integrins are heterodimeric integral membrane
            proteins composed of an alpha chain and a beta chain that function
            in cell surface adhesion and signaling. The encoded preproprotein
            is proteolytically processed to generate light and heavy chains
            that comprise the alpha 6 subunit. This subunit may associate with
            a beta 1 or beta 4 subunit to form an integrin that interacts with
            extracellular matrix proteins including members of the laminin
            family. The alpha 6 beta 4 integrin may promote tumorigenesis,
            while the alpha 6 beta 1 integrin may negatively regulate
            erbB2/HER2 signaling. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Oct 2015].
            Transcript Variant: This variant (2) contains an alternate coding
            exon compared to variant 1, which results in a frameshift. The
            resulting isoform (b) is shorter and has a distinct C-terminus
            compared to isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5816
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..5816
                     /gene="ITGA6"
                     /gene_synonym="CD49f; ITGA6A; ITGA6B; JEB6; VLA-6"
                     /note="integrin subunit alpha 6"
                     /db_xref="GeneID:3655"
                     /db_xref="HGNC:HGNC:6142"
                     /db_xref="MIM:147556"
     CDS             204..3425
                     /gene="ITGA6"
                     /gene_synonym="CD49f; ITGA6A; ITGA6B; JEB6; VLA-6"
                     /note="isoform b preproprotein is encoded by transcript
                     variant 2; integrin alpha6B; CD49 antigen-like family
                     member F; integrin, alpha 6; very late activation protein
                     6"
                     /codon_start=1
                     /product="integrin alpha-6 isoform b preproprotein"
                     /protein_id="NP_000201.2"
                     /db_xref="CCDS:CCDS2249.1"
                     /db_xref="GeneID:3655"
                     /db_xref="HGNC:HGNC:6142"
                     /db_xref="MIM:147556"
                     /translation="MAAAGQLCLLYLSAGLLSRLGAAFNLDTREDNVIRKYGDPGSLFG
                     FSLAMHWQLQPEDKRLLLVGAPRAEALPLQRANRTGGLYSCDITARGPCTRIEFDNDAD
                     PTSESKEDQWMGVTVQSQGPGGKVVTCAHRYEKRQHVNTKQESRDIFGRCYVLSQNLRI
                     EDDMDGGDWSFCDGRLRGHEKFGSCQQGVAATFTKDFHYIVFGAPGTYNWKGIVRVEQK
                     NNTFFDMNIFEDGPYEVGGETEHDESLVPVPANSYLGFSLDSGKGIVSKDEITFVSGAP
                     RANHSGAVVLLKRDMKSAHLLPEHIFDGEGLASSFGYDVAVVDLNKDGWQDIVIGAPQY
                     FDRDGEVGGAVYVYMNQQGRWNNVKPIRLNGTKDSMFGIAVKNIGDINQDGYPDIAVGA
                     PYDDLGKVFIYHGSANGINTKPTQVLKGISPYFGYSIAGNMDLDRNSYPDVAVGSLSDS
                     VTIFRSRPVINIQKTITVTPNRIDLRQKTACGAPSGICLQVKSCFEYTANPAGYNPSIS
                     IVGTLEAEKERRKSGLSSRVQFRNQGSEPKYTQELTLKRQKQKVCMEETLWLQDNIRDK
                     LRPIPITASVEIQEPSSRRRVNSLPEVLPILNSDEPKTAHIDVHFLKEGCGDDNVCNSN
                     LKLEYKFCTREGNQDKFSYLPIQKGVPELVLKDQKDIALEITVTNSPSNPRNPTKDGDD
                     AHEAKLIATFPDTLTYSAYRELRAFPEKQLSCVANQNGSQADCELGNPFKRNSNVTFYL
                     VLSTTEVTFDTPDLDINLKLETTSNQDNLAPITAKAKVVIELLLSVSGVAKPSQVYFGG
                     TVVGEQAMKSEDEVGSLIEYEFRVINLGKPLTNLGTATLNIQWPKEISNGKWLLYLVKV
                     ESKGLEKVTCEPQKEINSLNLTESHNSRKKREITEKQIDDNRKFSLFAERKYQTLNCSV
                     NVNCVNIRCPLRGLDSKASLILRSRLWNSTFLEEYSKLNYLDILMRAFIDVTAAAENIR
                     LPNAGTQVRVTVFPSKTVAQYSGVPWWIILVAILAGILMLALLVFILWKCGFFKRNKKD
                     HYDATYHKAEIHAQPSDKERLTSDA"
     sig_peptide     204..272
                     /gene="ITGA6"
                     /gene_synonym="CD49f; ITGA6A; ITGA6B; JEB6; VLA-6"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      5530..5535
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGA6"
                     /gene_synonym="CD49f; ITGA6A; ITGA6B; JEB6; VLA-6"
                     /note="hexamer: AATAAA"
     polyA_site      5550
                     /gene="ITGA6"
                     /gene_synonym="CD49f; ITGA6A; ITGA6B; JEB6; VLA-6"
     regulatory      5600..5605
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGA6"
                     /gene_synonym="CD49f; ITGA6A; ITGA6B; JEB6; VLA-6"
                     /note="hexamer: TATAAA"
     polyA_site      5634
                     /gene="ITGA6"
                     /gene_synonym="CD49f; ITGA6A; ITGA6B; JEB6; VLA-6"
                     /note="major polyA site"
     regulatory      5785..5790
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGA6"
                     /gene_synonym="CD49f; ITGA6A; ITGA6B; JEB6; VLA-6"
                     /note="hexamer: AAGAAA"
     polyA_site      5816
                     /gene="ITGA6"
                     /gene_synonym="CD49f; ITGA6A; ITGA6B; JEB6; VLA-6"
ORIGIN
        1 aacgggctca ttcagcggtc gcgagctgcc cgcgaggggg agcggccgga cggagagcgc
       61 gacccgtccc gggggtgggg ccgggcgcag cggcgagagg aggcgaaggt ggctgcggta
      121 gcagcagcgc ggcagcctcg gacccagccc ggagcgcagg gcggccgctg caggtccccg
      181 ctcccctccc cgtgcgtccg cccatggccg ccgccgggca gctgtgcttg ctctacctgt
      241 cggcggggct cctgtcccgg ctcggcgcag ccttcaactt ggacactcgg gaggacaacg
      301 tgatccggaa atatggagac cccgggagcc tcttcggctt ctcgctggcc atgcactggc
      361 aactgcagcc cgaggacaag cggctgttgc tcgtgggggc cccgcgggca gaagcgcttc
      421 cactgcagag agccaacaga acgggagggc tgtacagctg cgacatcacc gcccgggggc
      481 catgcacgcg gatcgagttt gataacgatg ctgaccccac gtcagaaagc aaggaagatc
      541 agtggatggg ggtcaccgtc cagagccaag gtccaggggg caaggtcgtg acatgtgctc
      601 accgatatga aaaaaggcag catgttaata cgaagcagga atcccgagac atctttgggc
      661 ggtgttatgt cctgagtcag aatctcagga ttgaagacga tatggatggg ggagattgga
      721 gcttttgtga tgggcgattg agaggccatg agaaatttgg ctcttgccag caaggtgtag
      781 cagctacttt tactaaagac tttcattaca ttgtatttgg agccccgggt acttataact
      841 ggaaagggat tgttcgtgta gagcaaaaga ataacacttt ttttgacatg aacatctttg
      901 aagatgggcc ttatgaagtt ggtggagaga ctgagcatga tgaaagtctc gttcctgttc
      961 ctgctaacag ttacttaggt ttttctttgg actcagggaa aggtattgtt tctaaagatg
     1021 agatcacttt tgtatctggt gctcccagag ccaatcacag tggagccgtg gttttgctga
     1081 agagagacat gaagtctgca catctcctcc ctgagcacat attcgatgga gaaggtctgg
     1141 cctcttcatt tggctatgat gtggcggtgg tggacctcaa caaggatggg tggcaagata
     1201 tagttattgg agccccacag tattttgata gagatggaga agttggaggt gcagtgtatg
     1261 tctacatgaa ccagcaaggc agatggaata atgtgaagcc aattcgtctt aatggaacca
     1321 aagattctat gtttggcatt gcagtaaaaa atattggaga tattaatcaa gatggctacc
     1381 cagatattgc agttggagct ccgtatgatg acttgggaaa ggtttttatc tatcatggat
     1441 ctgcaaatgg aataaatacc aaaccaacac aggttctcaa gggtatatca ccttattttg
     1501 gatattcaat tgctggaaac atggaccttg atcgaaattc ctaccctgat gttgctgttg
     1561 gttccctctc agattcagta actattttca gatcccggcc tgtgattaat attcagaaaa
     1621 ccatcacagt aactcctaac agaattgacc tccgccagaa aacagcgtgt ggggcgccta
     1681 gtgggatatg cctccaggtt aaatcctgtt ttgaatatac tgctaacccc gctggttata
     1741 atccttcaat atcaattgtg ggcacacttg aagctgaaaa agaaagaaga aaatctgggc
     1801 tatcctcaag agttcagttt cgaaaccaag gttctgagcc caaatatact caagaactaa
     1861 ctctgaagag gcagaaacag aaagtgtgca tggaggaaac cctgtggcta caggataata
     1921 tcagagataa actgcgtccc attcccataa ctgcctcagt ggagatccaa gagccaagct
     1981 ctcgtaggcg agtgaattca cttccagaag ttcttccaat tctgaattca gatgaaccca
     2041 agacagctca tattgatgtt cacttcttaa aagagggatg tggagacgac aatgtatgta
     2101 acagcaacct taaactagaa tataaatttt gcacccgaga aggaaatcaa gacaaatttt
     2161 cttatttacc aattcaaaaa ggtgtaccag aactagttct aaaagatcag aaggatattg
     2221 ctttagaaat aacagtgaca aacagccctt ccaacccaag gaatcccaca aaagatggcg
     2281 atgacgccca tgaggctaaa ctgattgcaa cgtttccaga cactttaacc tattctgcat
     2341 atagagaact gagggctttc cctgagaaac agttgagttg tgttgccaac cagaatggct
     2401 cgcaagctga ctgtgagctc ggaaatcctt ttaaaagaaa ttcaaatgtc actttttatt
     2461 tggttttaag tacaactgaa gtcacctttg acaccccaga tctggatatt aatctgaagt
     2521 tagaaacaac aagcaatcaa gataatttgg ctccaattac agctaaagca aaagtggtta
     2581 ttgaactgct tttatcggtc tcgggagttg ctaaaccttc ccaggtgtat tttggaggta
     2641 cagttgttgg cgagcaagct atgaaatctg aagatgaagt gggaagttta atagagtatg
     2701 aattcagggt aataaactta ggtaaacctc ttacaaacct cggcacagca accttgaaca
     2761 ttcagtggcc aaaagaaatt agcaatggga aatggttgct ttatttggtg aaagtagaat
     2821 ccaaaggatt ggaaaaggta acttgtgagc cacaaaagga gataaactcc ctgaacctaa
     2881 cggagtctca caactcaaga aagaaacggg aaattactga aaaacagata gatgataaca
     2941 gaaaattttc tttatttgct gaaagaaaat accagactct taactgtagc gtgaacgtga
     3001 actgtgtgaa catcagatgc ccgctgcggg ggctggacag caaggcgtct cttattttgc
     3061 gctcgaggtt atggaacagc acatttctag aggaatattc caaactgaac tacttggaca
     3121 ttctcatgcg agccttcatt gatgtgactg ctgctgccga aaatatcagg ctgccaaatg
     3181 caggcactca ggttcgagtg actgtgtttc cctcaaagac tgtagctcag tattcgggag
     3241 taccttggtg gatcatccta gtggctattc tcgctgggat cttgatgctt gctttattag
     3301 tgtttatact atggaagtgt ggtttcttca agagaaataa gaaagatcat tatgatgcca
     3361 catatcacaa ggctgagatc catgctcagc catctgataa agagaggctt acttctgatg
     3421 catagtattg atctacttct gtaattgtgt ggattcttta aacgctctag gtacgatgac
     3481 agtgttcccc gataccatgc tgtaaggatc cggaaagaag agcgagagat caaagatgaa
     3541 aagtatattg ataaccttga aaaaaaacag tggatcacaa agtggaacga aaatgaaagc
     3601 tactcatagc gggggcctaa aaaaaaaaag cttcacagta cccaaactgc tttttccaac
     3661 tcagaaattc aatttggatt taaaagcctg ctcaatccct gaggactgat ttcagagtga
     3721 ctacacacag tacgaaccta cagttttaac tgtggatatt gttacgtagc ctaaggctcc
     3781 tgttttgcac agccaaattt aaaactgttg gaatggattt ttctttaact gccgtaattt
     3841 aactttctgg gttgccttta tttttggcgt ggctgactta catcatgtgt tggggaaggg
     3901 cctgcccagt tgcactcagg tgacatcctc cagatagtgt agctgaggag gcacctacac
     3961 tcacctgcac taacagagtg gccgtcctaa cctcgggcct gctgcgcaga cgtccatcac
     4021 gttagctgtc ccacatcaca agactatgcc attggggtag ttgtgtttca acggaaagtg
     4081 ctgtcttaaa ctaaatgtgc aatagaaggt gatgttgcca tcctaccgtc ttttcctgtt
     4141 tcctagctgt gtgaatacct gctcacgtca aatgcataca agtttcattc tccctttcac
     4201 taaaacacac aggtgcaaca gacttgaatg ctagttatac ttatttgtat atggtattta
     4261 ttttttcttt tctttacaaa ccattttgtt attgactaac aggccaaaga gtctccagtt
     4321 tacccttcag gttggtttaa tcaatcagaa ttagagcatg ggaggtcatc actttgacct
     4381 aaattattta ctgcaaaaag aaaatcttta taaatgtacc agagagagtt gttttaataa
     4441 cttatctata aactataacc tctccttcat gacagcctcc accccacaac ccaaaaggtt
     4501 taagaaatag aattataact gtaaagatgt ttatttcagg cattggatat tttttacttt
     4561 agaagcctgc ataatgtttc tggatttcat actgtaacat tcaggaattc ttggagaaaa
     4621 tgggtttatt cactgaactc tagtgcggtt tactcactgc tgcaaatact gtatattcag
     4681 gacttgaaag aaatggtgaa tgcctatggt ggatccaaac tgatccagta taagactact
     4741 gaatctgcta ccaaaacagt taatcagtga gtcgatgttc tattttttgt tttgtttcct
     4801 cccctatctg tattcccaaa aattactttg gggctaattt aacaagaact ttaaattgtg
     4861 ttttaattgt aaaaatggca gggggtggaa ttattactct atacattcaa cagagactga
     4921 atagatatga aagctgattt tttttaatta ccatgcttca caatgttaag ttatatgggg
     4981 agcaacagca aacaggtgct aatttgtttt ggatatagta taagcagtgt ctgtgttttg
     5041 aaagaataga acacagtttg tagtgccact gttgttttgg gggggctttt ttcttttcgg
     5101 aaatcttaaa ccttaagata ctaaggacgt tgttttggtt gtactttgga attcttagtc
     5161 acaaaatata ttttgtttac aaaaatttct gtaaaacagg ttataacagt gtttaaagtc
     5221 tcagtttctt gcttggggaa cttgtgtccc taatgtgttt agattgctag attgctaagg
     5281 agctgatact ttgacagtgt ttttagacct gtgttactaa aaaaaagatg aatgtcctga
     5341 aaagggtgtt gggagggtgg ttcaacaaag aaacaaagat gttatggtgt ttagatttat
     5401 ggttgttaaa aatgtcatct caagtcaagt cactggtctg tttgcatttg atacattttt
     5461 gtactaacta gcattgtaaa attatttcat gattagaaat tacctgtgga tatttgtata
     5521 aaagtgtgaa ataaattttt tataaaagtg ttcattgttt cgtaacacag cattgtatat
     5581 gtgaagcaaa ctctaaaatt ataaatgaca acctgaatta tctatttcat caaaccaaag
     5641 ttcagtgttt ttatttttgg tgtctcatgt aatctcagat cagccaaaga tactagtgcc
     5701 aaagcaatgg gattcggggt ttttttctgt tttcgctcta tgtaggtgat cctcaagtct
     5761 ttcattttcc ttctttatga ttaaaagaaa cctacaggta tttaacaacc tacaaa
//
LOCUS       NM_000211               2807 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens integrin subunit beta 2 (ITGB2), transcript variant 1,
            mRNA.
ACCESSION   NM_000211
VERSION     NM_000211.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2807)
  AUTHORS   Selim AM, Elsabagh YA, El-Sawalhi MM, Ismail NA and Senousy MA.
  TITLE     Association of integrin-beta2 polymorphism and expression with the
            risk of rheumatoid arthritis and osteoarthritis in Egyptian patients
  JOURNAL   BMC Med Genomics 16 (1), 204 (2023)
   PUBMED   37644537
  REMARK    GeneRIF: Association of integrin-beta2 polymorphism and expression
            with the risk of rheumatoid arthritis and osteoarthritis in Egyptian
            patients. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2807)
  AUTHORS   Conley HE and Sheats MK.
  TITLE     Targeting Neutrophil beta2-Integrins: A Review of Relevant
            Resources, Tools, and Methods
  JOURNAL   Biomolecules 13 (6), 892 (2023)
   PUBMED   37371473
  REMARK    GeneRIF: Targeting Neutrophil beta2-Integrins: A Review of Relevant
            Resources, Tools, and Methods. Review article Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 2807)
  AUTHORS   Hu Y, Yu Y, Dong H and Jiang W.
  TITLE     Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic candidate
            genes for diabetic nephropathy using bioinformatics analysis
  JOURNAL   PeerJ 11, e15437 (2023)
   PUBMED   37250717
  REMARK    GeneRIF: Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic
            candidate genes for diabetic nephropathy using bioinformatics
            analysis. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2807)
  AUTHORS   Corbi AL, Vara A, Ursa A, Garcia Rodriguez MC, Fontan G and
            Sanchez-Madrid F.
  TITLE     Molecular basis for a severe case of leukocyte adhesion deficiency
  JOURNAL   Eur J Immunol 22 (7), 1877-1881 (1992)
   PUBMED   1352501
REFERENCE   5  (bases 1 to 2807)
  AUTHORS   Matsuura S, Kishi F, Tsukahara M, Nunoi H, Matsuda I, Kobayashi K
            and Kajii T.
  TITLE     Leukocyte adhesion deficiency: identification of novel mutations in
            two Japanese patients with a severe form
  JOURNAL   Biochem Biophys Res Commun 184 (3), 1460-1467 (1992)
   PUBMED   1590804
REFERENCE   6  (bases 1 to 2807)
  AUTHORS   Back AL, Kwok WW and Hickstein DD.
  TITLE     Identification of two molecular defects in a child with leukocyte
            adherence deficiency
  JOURNAL   J Biol Chem 267 (8), 5482-5487 (1992)
   PUBMED   1347532
REFERENCE   7  (bases 1 to 2807)
  AUTHORS   Nelson C, Rabb H and Arnaout MA.
  TITLE     Genetic cause of leukocyte adhesion molecule deficiency. Abnormal
            splicing and a missense mutation in a conserved region of CD18
            impair cell surface expression of beta 2 integrins
  JOURNAL   J Biol Chem 267 (5), 3351-3357 (1992)
   PUBMED   1346613
REFERENCE   8  (bases 1 to 2807)
  AUTHORS   Weitzman JB, Wells CE, Wright AH, Clark PA and Law SK.
  TITLE     The gene organisation of the human beta 2 integrin subunit (CD18)
  JOURNAL   FEBS Lett 294 (1-2), 97-103 (1991)
   PUBMED   1683838
REFERENCE   9  (bases 1 to 2807)
  AUTHORS   Law,S.K., Gagnon,J., Hildreth,J.E., Wells,C.E., Willis,A.C. and
            Wong,A.J.
  TITLE     The primary structure of the beta-subunit of the cell surface
            adhesion glycoproteins LFA-1, CR3 and p150,95 and its relationship
            to the fibronectin receptor
  JOURNAL   EMBO J 6 (4), 915-919 (1987)
   PUBMED   2954816
REFERENCE   10  (bases 1 to 2807)
  AUTHORS   Kishimoto,T.K., O'Connor,K., Lee,A., Roberts,T.M. and Springer,T.A.
  TITLE     Cloning of the beta subunit of the leukocyte adhesion proteins:
            homology to an extracellular matrix receptor defines a novel
            supergene family
  JOURNAL   Cell 48 (4), 681-690 (1987)
   PUBMED   3028646
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK222505.1, M15395.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000652462.1/ ENSP00000498780.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK222505.1, AK095992.1,
            M15395.1 and CA447686.1.
            On Nov 23, 2018 this sequence version replaced NM_000211.4.
            Summary: This gene encodes an integrin beta chain, which combines
            with multiple different alpha chains to form different integrin
            heterodimers. Integrins are integral cell-surface proteins that
            participate in cell adhesion as well as cell-surface mediated
            signalling. The encoded protein plays an important role in immune
            response and defects in this gene cause leukocyte adhesion
            deficiency. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Dec 2014].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1 and 2
            encode the same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2807
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..2807
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="integrin subunit beta 2"
                     /db_xref="GeneID:3689"
                     /db_xref="HGNC:HGNC:6155"
                     /db_xref="MIM:600065"
     CDS             83..2392
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; integrin beta-2; leukocyte-associated antigens CD18/11A,
                     CD18/11B, CD18/11C; complement receptor C3 beta-subunit;
                     cell surface adhesion glycoprotein (LFA-1/CR3/P150,959 beta
                     subunit precursor); leukocyte cell adhesion molecule CD18;
                     integrin beta chain, beta 2; integrin, beta 2 (complement
                     component 3 receptor 3 and 4 subunit)"
                     /codon_start=1
                     /product="integrin beta-2 isoform 1 precursor"
                     /protein_id="NP_000202.3"
                     /db_xref="CCDS:CCDS13716.1"
                     /db_xref="GeneID:3689"
                     /db_xref="HGNC:HGNC:6155"
                     /db_xref="MIM:600065"
                     /translation="MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCTW
                     CQKLNFTGPGDPDSIRCDTRPQLLMRGCAADDIMDPTSLAETQEDHNGGQKQLSPQKVT
                     LYLRPGQAAAFNVTFRRAKGYPIDLYYLMDLSYSMLDDLRNVKKLGGDLLRALNEITES
                     GRIGFGSFVDKTVLPFVNTHPDKLRNPCPNKEKECQPPFAFRHVLKLTNNSNQFQTEVG
                     KQLISGNLDAPEGGLDAMMQVAACPEEIGWRNVTRLLVFATDDGFHFAGDGKLGAILTP
                     NDGRCHLEDNLYKRSNEFDYPSVGQLAHKLAENNIQPIFAVTSRMVKTYEKLTEIIPKS
                     AVGELSEDSSNVVHLIKNAYNKLSSRVFLDHNALPDTLKVTYDSFCSNGVTHRNQPRGD
                     CDGVQINVPITFQVKVTATECIQEQSFVIRALGFTDIVTVQVLPQCECRCRDQSRDRSL
                     CHGKGFLECGICRCDTGYIGKNCECQTQGRSSQELEGSCRKDNNSIICSGLGDCVCGQC
                     LCHTSDVPGKLIYGQYCECDTINCERYNGQVCGGPGRGLCFCGKCRCHPGFEGSACQCE
                     RTTEGCLNPRRVECSGRGRCRCNVCECHSGYQLPLCQECPGCPSPCGKYISCAECLKFE
                     KGPFGKNCSAACPGLQLSNNPVKGRTCKERDSEGCWVAYTLEQQDGMDRYLIYVDESRE
                     CVAGPNIAAIVGGTVAGIVLIGILLLVIWKALIHLSDLREYRRFEKEKLKSQWNNDNPL
                     FKSATTTVMNPKFAES"
     sig_peptide     83..148
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     149..2389
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /product="Integrin beta-2. /id=PRO_0000016341"
                     /note="propagated from UniProtKB/Swiss-Prot (P05107.2)"
     misc_feature    149..151
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="Pyrrolidone carboxylic acid.
                     /evidence=ECO:0000305|PubMed:2954816; propagated from
                     UniProtKB/Swiss-Prot (P05107.2);
                     pyrrolidone-carboxylic-acid site"
     misc_feature    230..232
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P05107.2); glycosylation site"
     misc_feature    428..430
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973,
                     ECO:0000269|PubMed:20033057, ECO:0000269|PubMed:24385486,
                     ECO:0007744|PDB:4NEH, ECO:0007744|PDB:4NEN; propagated from
                     UniProtKB/Swiss-Prot (P05107.2); glycosylation site"
     misc_feature    716..718
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19349973;
                     propagated from UniProtKB/Swiss-Prot (P05107.2);
                     glycosylation site"
     misc_feature    842..844
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P05107.2); glycosylation site"
     misc_feature    1271..1279
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="propagated from UniProtKB/Swiss-Prot (P05107.2);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    1583..1585
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P05107.2); glycosylation site"
     misc_feature    2006..2008
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:24385486,
                     ECO:0007744|PDB:4NEH, ECO:0007744|PDB:4NEN; propagated from
                     UniProtKB/Swiss-Prot (P05107.2); glycosylation site"
     misc_feature    2183..2251
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="propagated from UniProtKB/Swiss-Prot (P05107.2);
                     transmembrane region"
     misc_feature    2315..2317
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000269|PubMed:11700305; propagated from
                     UniProtKB/Swiss-Prot (P05107.2); phosphorylation site"
     misc_feature    2348..2350
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:11700305; propagated from
                     UniProtKB/Swiss-Prot (P05107.2); phosphorylation site"
     misc_feature    2354..2356
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="Phosphothreonine, by PKC, in vitro.
                     /evidence=ECO:0000269|PubMed:11700305,
                     ECO:0000269|PubMed:16301335; propagated from
                     UniProtKB/Swiss-Prot (P05107.2); phosphorylation site"
     misc_feature    2357..2359
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="Phosphothreonine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P05107.2); phosphorylation site"
     misc_feature    2360..2362
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="Phosphothreonine, by PKC/PRKCA, in vitro.
                     /evidence=ECO:0000269|PubMed:11700305; propagated from
                     UniProtKB/Swiss-Prot (P05107.2); phosphorylation site"
     regulatory      2787..2792
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="hexamer: AATACA"
     polyA_site      2807
                     /gene="ITGB2"
                     /gene_synonym="CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7"
                     /note="major polyA site"
ORIGIN
        1 agacgtgacc cagggcagac tggtagcaaa gcccccacgc ccagccagga gcaccgccga
       61 ggactccagc acaccgaggg acatgctggg cctgcgcccc ccactgctcg ccctggtggg
      121 gctgctctcc ctcgggtgcg tcctctctca ggagtgcacg aagttcaagg tcagcagctg
      181 ccgggaatgc atcgagtcgg ggcccggctg cacctggtgc cagaagctga acttcacagg
      241 gccgggggat cctgactcca ttcgctgcga cacccggcca cagctgctca tgaggggctg
      301 tgcggctgac gacatcatgg accccacaag cctcgctgaa acccaggaag accacaatgg
      361 gggccagaag cagctgtccc cacaaaaagt gacgctttac ctgcgaccag gccaggcagc
      421 agcgttcaac gtgaccttcc ggcgggccaa gggctacccc atcgacctgt actatctgat
      481 ggacctctcc tactccatgc ttgatgacct caggaatgtc aagaagctag gtggcgacct
      541 gctccgggcc ctcaacgaga tcaccgagtc cggccgcatt ggcttcgggt ccttcgtgga
      601 caagaccgtg ctgccgttcg tgaacacgca ccctgataag ctgcgaaacc catgccccaa
      661 caaggagaaa gagtgccagc ccccgtttgc cttcaggcac gtgctgaagc tgaccaacaa
      721 ctccaaccag tttcagaccg aggtcgggaa gcagctgatt tccggaaacc tggatgcacc
      781 cgagggtggg ctggacgcca tgatgcaggt cgccgcctgc ccggaggaaa tcggctggcg
      841 caacgtcacg cggctgctgg tgtttgccac tgatgacggc ttccatttcg cgggcgacgg
      901 gaagctgggc gccatcctga cccccaacga cggccgctgt cacctggagg acaacttgta
      961 caagaggagc aacgaattcg actacccatc ggtgggccag ctggcgcaca agctggctga
     1021 aaacaacatc cagcccatct tcgcggtgac cagtaggatg gtgaagacct acgagaaact
     1081 caccgagatc atccccaagt cagccgtggg ggagctgtct gaggactcca gcaatgtggt
     1141 ccatctcatt aagaatgctt acaataaact ctcctccagg gtcttcctgg atcacaacgc
     1201 cctccccgac accctgaaag tcacctacga ctccttctgc agcaatggag tgacgcacag
     1261 gaaccagccc agaggtgact gtgatggcgt gcagatcaat gtcccgatca ccttccaggt
     1321 gaaggtcacg gccacagagt gcatccagga gcagtcgttt gtcatccggg cgctgggctt
     1381 cacggacata gtgaccgtgc aggttcttcc ccagtgtgag tgccggtgcc gggaccagag
     1441 cagagaccgc agcctctgcc atggcaaggg cttcttggag tgcggcatct gcaggtgtga
     1501 cactggctac attgggaaaa actgtgagtg ccagacacag ggccggagca gccaggagct
     1561 ggaaggaagc tgccggaagg acaacaactc catcatctgc tcagggctgg gggactgtgt
     1621 ctgcgggcag tgcctgtgcc acaccagcga cgtccccggc aagctgatat acgggcagta
     1681 ctgcgagtgt gacaccatca actgtgagcg ctacaacggc caggtctgcg gcggcccggg
     1741 gagggggctc tgcttctgcg ggaagtgccg ctgccacccg ggctttgagg gctcagcgtg
     1801 ccagtgcgag aggaccactg agggctgcct gaacccgcgg cgtgttgagt gtagtggtcg
     1861 tggccggtgc cgctgcaacg tatgcgagtg ccattcaggc taccagctgc ctctgtgcca
     1921 ggagtgcccc ggctgcccct caccctgtgg caagtacatc tcctgcgccg agtgcctgaa
     1981 gttcgaaaag ggcccctttg ggaagaactg cagcgcggcg tgtccgggcc tgcagctgtc
     2041 gaacaacccc gtgaagggca ggacctgcaa ggagagggac tcagagggct gctgggtggc
     2101 ctacacgctg gagcagcagg acgggatgga ccgctacctc atctatgtgg atgagagccg
     2161 agagtgtgtg gcaggcccca acatcgccgc catcgtcggg ggcaccgtgg caggcatcgt
     2221 gctgatcggc attctcctgc tggtcatctg gaaggctctg atccacctga gcgacctccg
     2281 ggagtacagg cgctttgaga aggagaagct caagtcccag tggaacaatg ataatcccct
     2341 tttcaagagc gccaccacga cggtcatgaa ccccaagttt gctgagagtt aggagcactt
     2401 ggtgaagaca aggccgtcag gacccaccat gtctgcccca tcacgcggcc gagacatggc
     2461 ttgccacagc tcttgaggat gtcaccaatt aaccagaaat ccagttattt tccgccctca
     2521 aaatgacagc catggccggc cgggtgcttc tgggggctcg tcggggggac agctccactc
     2581 tgactggcac agtctttgca tggagacttg aggagggagg gcttgaggtt ggtgaggtta
     2641 ggtgcgtgtt tcctgtgcaa gtcaggacat cagtctgatt aaaggtggtg ccaatttatt
     2701 tacatttaaa cttgtcaggg tataaaatga catcccatta attatattgt taatcaatca
     2761 cgtgtataga aaaaaaataa aacttcaata caggctgtcc atggaaa
//
LOCUS       NM_000212               5941 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens integrin subunit beta 3 (ITGB3), mRNA.
ACCESSION   NM_000212
VERSION     NM_000212.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5941)
  AUTHORS   Koukouritaki SB, Thinn AMM, Ashworth KJ, Fang J, Slater HS, Du LM,
            Nguyen HTT, Pillois X, Nurden AT, Ng CJ, Di Paola J, Zhu J and
            Wilcox DA.
  TITLE     A single F153Sbeta3 mutation causes constitutive integrin
            alphaIIbbeta3 activation in a variant form of Glanzmann
            thrombasthenia
  JOURNAL   Blood Adv 7 (13), 3180-3191 (2023)
   PUBMED   36884296
  REMARK    GeneRIF: A single F153Sbeta3 mutation causes constitutive integrin
            alphaIIbbeta3 activation in a variant form of Glanzmann
            thrombasthenia.
REFERENCE   2  (bases 1 to 5941)
  AUTHORS   Gc JB, Chen J, Pokharel SM, Mohanty I, Mariasoosai C, Obi P,
            Panipinto P, Bandyopadhyay S, Bose S and Natesan S.
  TITLE     Molecular basis for the recognition of 24-(S)-hydroxycholesterol by
            integrin alphavbeta3
  JOURNAL   Sci Rep 13 (1), 9166 (2023)
   PUBMED   37280310
  REMARK    GeneRIF: Molecular basis for the recognition of
            24-(S)-hydroxycholesterol by integrin alphavbeta3. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 5941)
  AUTHORS   Li Q, Chen G, Jiang H, Dai H, Li D, Zhu K, Zhang K, Shen H, Xu H and
            Li S.
  TITLE     ITGB3 promotes cisplatin resistance in osteosarcoma tumors
  JOURNAL   Cancer Med 12 (7), 8452-8463 (2023)
   PUBMED   36772869
  REMARK    GeneRIF: ITGB3 promotes cisplatin resistance in osteosarcoma tumors.
REFERENCE   4  (bases 1 to 5941)
  AUTHORS   Tsysar YV, Andriiets OA, Dubyk LV, Dyak KV and Radu RM.
  TITLE     Genetic screening of PLA1/PLA2 polymorphous marker of integrin beta
            3 (ITGB3) GP IIIA gene in adolescent girls with puberty menorrhagia
  JOURNAL   J Med Life 16 (2), 261-266 (2023)
   PUBMED   36937472
  REMARK    GeneRIF: Genetic screening of PLA1/PLA2 polymorphous marker of
            integrin beta 3 (ITGB3) GP IIIA gene in adolescent girls with
            puberty menorrhagia.
REFERENCE   5  (bases 1 to 5941)
  AUTHORS   Landsem A, Emblem A, Lau C, Christiansen D, Gerogianni A, Karlsen
            BO, Mollnes TE, Nilsson PH and Brekke OL.
  TITLE     Complement C3b contributes to Escherichia coli-induced platelet
            aggregation in human whole blood
  JOURNAL   Front Immunol 13, 1020712 (2022)
   PUBMED   36591264
  REMARK    GeneRIF: Complement C3b contributes to Escherichia coli-induced
            platelet aggregation in human whole blood. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 5941)
  AUTHORS   Bajt ML, Loftus JC, Gawaz MP and Ginsberg MH.
  TITLE     Characterization of a gain of function mutation of integrin alpha
            IIb beta 3 (platelet glycoprotein IIb-IIIa)
  JOURNAL   J Biol Chem 267 (31), 22211-22216 (1992)
   PUBMED   1429573
REFERENCE   7  (bases 1 to 5941)
  AUTHORS   Chen YP, Djaffar I, Pidard D, Steiner B, Cieutat AM, Caen JP and
            Rosa JP.
  TITLE     Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3
            subunit and defective activation of platelet integrin alpha IIb beta
            3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia
  JOURNAL   Proc Natl Acad Sci U S A 89 (21), 10169-10173 (1992)
   PUBMED   1438206
REFERENCE   8  (bases 1 to 5941)
  AUTHORS   Wang R, Furihata K, McFarland JG, Friedman K, Aster RH and Newman
            PJ.
  TITLE     An amino acid polymorphism within the RGD binding domain of platelet
            membrane glycoprotein IIIa is responsible for the formation of the
            Pena/Penb alloantigen system
  JOURNAL   J Clin Invest 90 (5), 2038-2043 (1992)
   PUBMED   1430225
REFERENCE   9  (bases 1 to 5941)
  AUTHORS   Jiang WM, Jenkins D, Yuan Q, Leung E, Choo KH, Watson JD and
            Krissansen GW.
  TITLE     The gene organization of the human beta 7 subunit, the common beta
            subunit of the leukocyte integrins HML-1 and LPAM-1
  JOURNAL   Int Immunol 4 (9), 1031-1040 (1992)
   PUBMED   1382574
REFERENCE   10  (bases 1 to 5941)
  AUTHORS   Bajt ML, Ginsberg MH, Frelinger AL 3rd, Berndt MC and Loftus JC.
  TITLE     A spontaneous mutation of integrin alpha IIb beta 3 (platelet
            glycoprotein IIb-IIIa) helps define a ligand binding site
  JOURNAL   J Biol Chem 267 (6), 3789-3794 (1992)
   PUBMED   1371279
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.3377103.1,
            SRR14038193.3244126.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000559488.7/ ENSP00000452786.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC068234.8 and M35999.1.
            On Nov 25, 2019 this sequence version replaced NM_000212.2.
            Summary: The ITGB3 protein product is the integrin beta chain beta
            3. Integrins are integral cell-surface proteins composed of an
            alpha chain and a beta chain. A given chain may combine with
            multiple partners resulting in different integrins. Integrin beta 3
            is found along with the alpha IIb chain in platelets. Integrins are
            known to participate in cell adhesion as well as cell-surface
            mediated signalling. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..5941
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     gene            1..5941
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="integrin subunit beta 3"
                     /db_xref="GeneID:3690"
                     /db_xref="HGNC:HGNC:6156"
                     /db_xref="MIM:173470"
     CDS             36..2402
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="platelet membrane glycoprotein IIIa; integrin beta
                     3; integrin, beta 3 (platelet glycoprotein IIIa, antigen
                     CD61); integrin beta chain, beta 3"
                     /codon_start=1
                     /product="integrin beta-3 precursor"
                     /protein_id="NP_000203.2"
                     /db_xref="CCDS:CCDS11511.1"
                     /db_xref="GeneID:3690"
                     /db_xref="HGNC:HGNC:6156"
                     /db_xref="MIM:173470"
                     /translation="MRARPRPRPLWATVLALGALAGVGVGGPNICTTRGVSSCQQCLAV
                     SPMCAWCSDEALPLGSPRCDLKENLLKDNCAPESIEFPVSEARVLEDRPLSDKGSGDSS
                     QVTQVSPQRIALRLRPDDSKNFSIQVRQVEDYPVDIYYLMDLSYSMKDDLWSIQNLGTK
                     LATQMRKLTSNLRIGFGAFVDKPVSPYMYISPPEALENPCYDMKTTCLPMFGYKHVLTL
                     TDQVTRFNEEVKKQSVSRNRDAPEGGFDAIMQATVCDEKIGWRNDASHLLVFTTDAKTH
                     IALDGRLAGIVQPNDGQCHVGSDNHYSASTTMDYPSLGLMTEKLSQKNINLIFAVTENV
                     VNLYQNYSELIPGTTVGVLSMDSSNVLQLIVDAYGKIRSKVELEVRDLPEELSLSFNAT
                     CLNNEVIPGLKSCMGLKIGDTVSFSIEAKVRGCPQEKEKSFTIKPVGFKDSLIVQVTFD
                     CDCACQAQAEPNSHRCNNGNGTFECGVCRCGPGWLGSQCECSEEDYRPSQQDECSPREG
                     QPVCSQRGECLCGQCVCHSSDFGKITGKYCECDDFSCVRYKGEMCSGHGQCSCGDCLCD
                     SDWTGYYCNCTTRTDTCMSSNGLLCSGRGKCECGSCVCIQPGSYGDTCEKCPTCPDACT
                     FKKECVECKKFDRGALHDENTCNRYCRDEIESVKELKDTGKDAVNCTYKNEDDCVVRFQ
                     YYEDSSGKSILYVVEEPECPKGPDILVVLLSVMGAILLIGLAALLIWKLLITIHDRKEF
                     AKFEEERARAKWDTANNPLYKEATSTFTNITYRGT"
     sig_peptide     36..113
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     114..2399
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /product="Integrin beta-3. /id=PRO_0000016344"
                     /note="propagated from UniProtKB/Swiss-Prot (P05106.2)"
     misc_feature    408..410
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15378069,
                     ECO:0000269|PubMed:16263699, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19111664, ECO:0000269|PubMed:19704023,
                     ECO:0007744|PDB:1TYE, ECO:0007744|PDB:3IJE; propagated from
                     UniProtKB/Swiss-Prot (P05106.2); glycosylation site"
     misc_feature    642..665
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05106.2);
                     Region: Involved in CX3CL1-, NRG1-, FGF1-and IGF1-binding.
                     /evidence=ECO:0000269|PubMed:18441324,
                     ECO:0000269|PubMed:19578119, ECO:0000269|PubMed:20682778,
                     ECO:0000269|PubMed:23125415"
     misc_feature    912..974
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05106.2);
                     Region: CX3CL1-binding.
                     /evidence=ECO:0000269|PubMed:24789099"
     misc_feature    1071..1073
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:11546839,
                     ECO:0000269|PubMed:15378069, ECO:0000269|PubMed:19111664,
                     ECO:0000269|PubMed:19704023, ECO:0007744|PDB:1JV2,
                     ECO:0007744|PDB:1TYE, ECO:0007744|PDB:3IJE; propagated from
                     UniProtKB/Swiss-Prot (P05106.2); glycosylation site"
     misc_feature    1224..1226
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:11546839,
                     ECO:0000269|PubMed:15378069, ECO:0000269|PubMed:19111664,
                     ECO:0000269|PubMed:19704023, ECO:0007744|PDB:1JV2,
                     ECO:0007744|PDB:1TYE, ECO:0007744|PDB:3IJE; propagated from
                     UniProtKB/Swiss-Prot (P05106.2); glycosylation site"
     misc_feature    1467..1469
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19111664,
                     ECO:0000269|PubMed:19704023, ECO:0007744|PDB:3IJE;
                     propagated from UniProtKB/Swiss-Prot (P05106.2);
                     glycosylation site"
     misc_feature    1788..1790
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:11546839,
                     ECO:0000269|PubMed:19111664, ECO:0000269|PubMed:19704023,
                     ECO:0007744|PDB:1JV2, ECO:0007744|PDB:3IJE; propagated from
                     UniProtKB/Swiss-Prot (P05106.2); glycosylation site"
     misc_feature    2073..2075
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:11546839,
                     ECO:0000269|PubMed:19159218, ECO:0007744|PDB:1JV2;
                     propagated from UniProtKB/Swiss-Prot (P05106.2);
                     glycosylation site"
     misc_feature    2190..2258
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05106.2);
                     transmembrane region"
     misc_feature    2334..2336
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:O54890; propagated from
                     UniProtKB/Swiss-Prot (P05106.2); phosphorylation site"
     misc_feature    2352..2354
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:19141530,
                     ECO:0007744|PubMed:18088087; propagated from
                     UniProtKB/Swiss-Prot (P05106.2); phosphorylation site"
     misc_feature    2364..2384
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05106.2);
                     Region: LIR. /evidence=ECO:0000305|PubMed:33436497,
                     ECO:0000305|PubMed:33436498"
     misc_feature    2370..2372
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="Phosphothreonine, by PDPK1 and PKB/AKT1, in vitro.
                     /evidence=ECO:0000269|PubMed:10896934; propagated from
                     UniProtKB/Swiss-Prot (P05106.2); phosphorylation site"
     misc_feature    2388..2390
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:8631894; propagated from
                     UniProtKB/Swiss-Prot (P05106.2); phosphorylation site"
     regulatory      5918..5923
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="hexamer: ATTAAA"
     polyA_site      5941
                     /gene="ITGB3"
                     /gene_synonym="BDPLT16; BDPLT2; BDPLT24; CD61; GP3A;
                     GPIIIa; GT; GT2"
                     /note="major polyA site"
ORIGIN
        1 gtggggcggg cggagcgccg cgggaggcgg acgagatgcg agcgcggccg cggccccggc
       61 cgctctgggc gactgtgctg gcgctggggg cgctggcggg cgttggcgta ggagggccca
      121 acatctgtac cacgcgaggt gtgagctcct gccagcagtg cctggctgtg agccccatgt
      181 gtgcctggtg ctctgatgag gccctgcctc tgggctcacc tcgctgtgac ctgaaggaga
      241 atctgctgaa ggataactgt gccccagaat ccatcgagtt cccagtgagt gaggcccgag
      301 tactagagga caggcccctc agcgacaagg gctctggaga cagctcccag gtcactcaag
      361 tcagtcccca gaggattgca ctccggctcc ggccagatga ttcgaagaat ttctccatcc
      421 aagtgcggca ggtggaggat taccctgtgg acatctacta cttgatggac ctgtcttact
      481 ccatgaagga tgatctgtgg agcatccaga acctgggtac caagctggcc acccagatgc
      541 gaaagctcac cagtaacctg cggattggct tcggggcatt tgtggacaag cctgtgtcac
      601 catacatgta tatctcccca ccagaggccc tcgaaaaccc ctgctatgat atgaagacca
      661 cctgcttgcc catgtttggc tacaaacacg tgctgacgct aactgaccag gtgacccgct
      721 tcaatgagga agtgaagaag cagagtgtgt cacggaaccg agatgcccca gagggtggct
      781 ttgatgccat catgcaggct acagtctgtg atgaaaagat tggctggagg aatgatgcat
      841 cccacttgct ggtgtttacc actgatgcca agactcatat agcattggac ggaaggctgg
      901 caggcattgt ccagcctaat gacgggcagt gtcatgttgg tagtgacaat cattactctg
      961 cctccactac catggattat ccctctttgg ggctgatgac tgagaagcta tcccagaaaa
     1021 acatcaattt gatctttgca gtgactgaaa atgtagtcaa tctctatcag aactatagtg
     1081 agctcatccc agggaccaca gttggggttc tgtccatgga ttccagcaat gtcctccagc
     1141 tcattgttga tgcttatggg aaaatccgtt ctaaagtaga gctggaagtg cgtgacctcc
     1201 ctgaagagtt gtctctatcc ttcaatgcca cctgcctcaa caatgaggtc atccctggcc
     1261 tcaagtcttg tatgggactc aagattggag acacggtgag cttcagcatt gaggccaagg
     1321 tgcgaggctg tccccaggag aaggagaagt cctttaccat aaagcccgtg ggcttcaagg
     1381 acagcctgat cgtccaggtc acctttgatt gtgactgtgc ctgccaggcc caagctgaac
     1441 ctaatagcca tcgctgcaac aatggcaatg ggacctttga gtgtggggta tgccgttgtg
     1501 ggcctggctg gctgggatcc cagtgtgagt gctcagagga ggactatcgc ccttcccagc
     1561 aggacgaatg cagcccccgg gagggtcagc ccgtctgcag ccagcggggc gagtgcctct
     1621 gtggtcaatg tgtctgccac agcagtgact ttggcaagat cacgggcaag tactgcgagt
     1681 gtgacgactt ctcctgtgtc cgctacaagg gggagatgtg ctcaggccat ggccagtgca
     1741 gctgtgggga ctgcctgtgt gactccgact ggaccggcta ctactgcaac tgtaccacgc
     1801 gtactgacac ctgcatgtcc agcaatgggc tgctgtgcag cggccgcggc aagtgtgaat
     1861 gtggcagctg tgtctgtatc cagccgggct cctatgggga cacctgtgag aagtgcccca
     1921 cctgcccaga tgcctgcacc tttaagaaag aatgtgtgga gtgtaagaag tttgaccggg
     1981 gagccctaca tgacgaaaat acctgcaacc gttactgccg tgacgagatt gagtcagtga
     2041 aagagcttaa ggacactggc aaggatgcag tgaattgtac ctataagaat gaggatgact
     2101 gtgtcgtcag attccagtac tatgaagatt ctagtggaaa gtccatcctg tatgtggtag
     2161 aagagccaga gtgtcccaag ggccctgaca tcctggtggt cctgctctca gtgatggggg
     2221 ccattctgct cattggcctt gccgccctgc tcatctggaa actcctcatc accatccacg
     2281 accgaaaaga attcgctaaa tttgaggaag aacgcgccag agcaaaatgg gacacagcca
     2341 acaacccact gtataaagag gccacgtcta ccttcaccaa tatcacgtac cggggcactt
     2401 aatgataagc agtcatcctc agatcattat cagcctgtgc cacgattgca ggagtccctg
     2461 ccatcatgtt tacagaggac agtatttgtg gggagggatt tggggctcag agtggggtag
     2521 gttgggagaa tgtcagtatg tggaagtgtg ggtctgtgtg tgtgtatgtg ggggtctgtg
     2581 tgtttatgtg tgtgtgttgt gtgtgggagt gtgtaattta aaattgtgat gtgtcctgat
     2641 aagctgagct ccttagcctt tgtcccagaa tgcctcctgc agggattctt cctgcttagc
     2701 ttgagggtga ctatggagct gagcaggtgt tcttcattac ctcagtgaga agccagcttt
     2761 cctcatcagg ccattgtccc tgaagagaag ggcagggctg aggcctctca ttccagagga
     2821 agggacacca agccttggct ctaccctgag ttcataaatt tatggttctc aggcctgact
     2881 ctcagcagct atggtaggaa ctgctgggct tggcagcccg ggtcatctgt acctctgcct
     2941 cctttcccct ccctcaggcc gaaggaggag tcagggagag ctgaactatt agagctgcct
     3001 gtgccttttg ccatcccctc aacccagcta tggttctctc gcaagggaag tccttgcaag
     3061 ctaattcttt gacctgttgg gagtgaggat gtctgggcca ctcaggggtc attcatggcc
     3121 tgggggatgt accagcatct cccagttcat aatcacaacc cttcagattt gccttattgg
     3181 cagctctact ctggaggttt gtttagaaga agtgtgtcac ccttaggcca gcaccatctc
     3241 tttacctcct aattccacac cctcactgct gtagacattt gctatgagct ggggatgtct
     3301 ctcatgacca aatgcttttc ctcaaaggga gagagtgcta ttgtagagcc agaggtctgg
     3361 ccctatgctt ccggcctcct gtccctcatc catagcacct ccacatacct ggccctgtgc
     3421 cttggtgtgc tgtatccatc catggggctg attgtattta ccttctacct cttggctgcc
     3481 ttgtgaagga attattccca tgagttggct gggaataagt gccaggatgg aatgatgggt
     3541 cagttgtatc agcacgtgtg gcctgttctt ctatgggttg gacaacctca ttttaactca
     3601 gtctttaatc tgagaggcca cagtgcaatt ttattttatt tttctcatga tgaggttttc
     3661 ttaacttaaa agaacatgta tataaacatg cttgcattat atttgtaaat ttatgtgatg
     3721 gcaaagaagg agagcatagg aaaccacaca gacttgggca gggtacagac actcccactt
     3781 ggcatcattc acagcaagtc actggccagt ggctggatct gtgaggggct ctctcatgat
     3841 agaaggctat ggggatagat gtgtggacac attggacctt tcctgaggaa gagggactgt
     3901 tcttttgtcc cagaaaagca gtggctccat tggtgttgac atacatccaa cattaaaagc
     3961 cacccccaaa tgcccaagaa aaaaagaaag acttatcaac atttgttcca tgagcagaaa
     4021 actggagctc tggcctcagt gttacagcta aataatcttt aattaaggca agtcactttc
     4081 ttcttcttaa agctgttttc tagtttgaga aatgatggga ttttagcagc cagtcttgaa
     4141 ggtctctttc agtatcaaca ttctaagatg ctgggactta ctgtgtcatc aaatgtgcgg
     4201 ttaagattct ctgggatatt gatactgttt gtgtttttag ttgggagatc tgagagacct
     4261 ggctttggca agagcagatg tcattccata tcacctttct caatgaaagt ctcattctat
     4321 cctctctcca aacccgtttt ccaacatttg ttaatagtta cgtctctcct gatgtagcac
     4381 ttaagcttca tttagttatt atttctttct tcactttgca cacatttgca tccacatatt
     4441 agggaagagg aatccataag tagctgaaat atctattctg tattattgtg ttaacattga
     4501 gaataagcct tggaattaga tatggggcaa tgactgagcc ctgtctcacc catggattac
     4561 tccttactgt agggaatggc agtatggtag agggataaat agggggcggg gagggatagt
     4621 catggatcca agaagtcctt agaaatagtg gcagggaaca ggtgtggaag ctcatgcctg
     4681 taattataac cttcagctac taagacaggt gtggtggctc acgcctgtga ttataatctt
     4741 cagttactaa gacagagtcc atgagagtgt taatgggaca ttttctttag ataagatgtt
     4801 ttatatgaag aaactgtatc aaagggggaa gaaaatgtat ttaacaggtg aatcaaatca
     4861 ggaatcttgt ctgagctact ggaatgaagt tcacaggtct tgaagaccaa tattatttgt
     4921 caatatgtgg ggataacctg tagctgcatt catgaggtag caaatagcag ttttggcctg
     4981 tggggtgaac agctaaacag tgttctggca tcagataaca cggcacaaag ggattgtgtc
     5041 tagctctttt ggagaaaatt tatgtccagt ctcaggatct gtggacaata acggaaaact
     5101 ttgaatattc ctgacaagtt gccatattag gagtcagttc tttacttctc tgagattccc
     5161 aggtcatcca tgattttttt tttaatttga gacaaagcct cactcttgtt gcccaagctg
     5221 gaatgcaatg gcaagatctc agttcactgc aatctctgcc tctcaggttc aagccattct
     5281 cctgcctcag cctccccagt agccgggatt acaggcaccc gccaccacac ccggctaatt
     5341 tttgtatttt tagtagagac ggggtttcac catgttggcc aggctggtct cgaactcctg
     5401 accttaggcg atccaccttc ctcggcctcc cacagtgctg ggattacaag tgtgaagcac
     5461 tgtgcccggc cagtcatcca tgattttaat ggggtccaaa ggcctctttt tctttgttaa
     5521 gtattcctgg ttgaaatttc ttttcttttt tttttttttt ttgagacaga gtcttgctct
     5581 atcacccagg ctggagtgca gtggcacgat ctctgctcac tgcaagcttc gcctcccggg
     5641 ttcacgccat tctcctgcct cagcctcccg agtagctggg attacaggca cctgccacca
     5701 cgcccggcta atttcttttt gtatttttag tagagacggg gtttcacggt gttagccagg
     5761 aaggtctcga tctcctgacc tcgtgatcct cccgcctcgg cctcccaaag tgctgggatt
     5821 acaggcgtga gccactgccc ccggctgtgg ttgaaatttc ttaagtgcct tcctcacttc
     5881 ctaaccacct tctctgtttg ggtttgtgca acagtaaatt aaatgtactt tccaaaaaga
     5941 a
//
LOCUS       NM_000213               5896 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens integrin subunit beta 4 (ITGB4), transcript variant 1,
            mRNA.
ACCESSION   NM_000213
VERSION     NM_000213.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5896)
  AUTHORS   Yeh TC, Lin NY, Chiu CY, Hsu TW, Wu HY, Lin HY, Chen CH and Huang
            MC.
  TITLE     TMTC1 promotes invasiveness of ovarian cancer cells through
            integrins beta1 and beta4
  JOURNAL   Cancer Gene Ther 30 (8), 1134-1143 (2023)
   PUBMED   37221403
  REMARK    GeneRIF: TMTC1 promotes invasiveness of ovarian cancer cells through
            integrins beta1 and beta4.
REFERENCE   2  (bases 1 to 5896)
  AUTHORS   Ou X, Fang Z, Li W, Xia Y, Xia J and Zhang J.
  TITLE     Novel role for integrin beta4 in asthmatic children infected with
            Mycoplasma pneumoniae
  JOURNAL   J Asthma 60 (7), 1394-1401 (2023)
   PUBMED   36409462
  REMARK    GeneRIF: Novel role for integrin beta4 in asthmatic children
            infected with Mycoplasma pneumoniae.
REFERENCE   3  (bases 1 to 5896)
  AUTHORS   Genduso S, Freytag V, Schetler D, Kirchner L, Schiecke A, Maar H,
            Wicklein D, Gebauer F, Broker K, Sturken C, Milde-Langosch K,
            Oliveira-Ferrer L, Ricklefs FL, Ewald F, Wolters-Eisfeld G, Riecken
            K, Unrau L, Krause L, Bohnenberger H, Offermann A, Perner S, Sebens
            S, Lamszus K, Diehl L, Linder S, Jucker M, Schumacher U and Lange T.
  TITLE     Tumor cell integrin beta4 and tumor stroma E-/P-selectin
            cooperatively regulate tumor growth in vivo
  JOURNAL   J Hematol Oncol 16 (1), 23 (2023)
   PUBMED   36932441
  REMARK    GeneRIF: Tumor cell integrin beta4 and tumor stroma E-/P-selectin
            cooperatively regulate tumor growth in vivo. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 5896)
  AUTHORS   Chen CY, Wu PY, Van Scoyk M, Simko SA, Chou CF and Winn RA.
  TITLE     KCNF1 promotes lung cancer by modulating ITGB4 expression
  JOURNAL   Cancer Gene Ther 30 (3), 414-423 (2023)
   PUBMED   36385523
  REMARK    GeneRIF: KCNF1 promotes lung cancer by modulating ITGB4 expression.
REFERENCE   5  (bases 1 to 5896)
  AUTHORS   Lucky,A.W. and Gorell,E.
  TITLE     Epidermolysis Bullosa with Pyloric Atresia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301336
REFERENCE   6  (bases 1 to 5896)
  AUTHORS   Pfendner,E.G. and Lucky,A.W.
  TITLE     Junctional Epidermolysis Bullosa
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301304
REFERENCE   7  (bases 1 to 5896)
  AUTHORS   Hogervorst F, Kuikman I, van Kessel AG and Sonnenberg A.
  TITLE     Molecular cloning of the human alpha 6 integrin subunit. Alternative
            splicing of alpha 6 mRNA and chromosomal localization of the alpha 6
            and beta 4 genes
  JOURNAL   Eur J Biochem 199 (2), 425-433 (1991)
   PUBMED   2070796
REFERENCE   8  (bases 1 to 5896)
  AUTHORS   Tamura RN, Rozzo C, Starr L, Chambers J, Reichardt LF, Cooper HM and
            Quaranta V.
  TITLE     Epithelial integrin alpha 6 beta 4: complete primary structure of
            alpha 6 and variant forms of beta 4
  JOURNAL   J Cell Biol 111 (4), 1593-1604 (1990)
   PUBMED   1976638
REFERENCE   9  (bases 1 to 5896)
  AUTHORS   Hogervorst F, Kuikman I, von dem Borne AE and Sonnenberg A.
  TITLE     Cloning and sequence analysis of beta-4 cDNA: an integrin subunit
            that contains a unique 118 kd cytoplasmic domain
  JOURNAL   EMBO J 9 (3), 765-770 (1990)
   PUBMED   2311578
REFERENCE   10  (bases 1 to 5896)
  AUTHORS   Suzuki S and Naitoh Y.
  TITLE     Amino acid sequence of a novel integrin beta 4 subunit and primary
            expression of the mRNA in epithelial cells
  JOURNAL   EMBO J 9 (3), 757-763 (1990)
   PUBMED   2311577
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X53587.1, SRR14038197.633936.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000200181.8/ ENSP00000200181.3
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CA391583.1, X53587.1, X51841.1,
            AC087749.12, AI318403.1 and X52186.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000213.4.
            Summary: Integrins are heterodimers comprised of alpha and beta
            subunits, that are noncovalently associated transmembrane
            glycoprotein receptors. Different combinations of alpha and beta
            polypeptides form complexes that vary in their ligand-binding
            specificities. Integrins mediate cell-matrix or cell-cell adhesion,
            and transduced signals that regulate gene expression and cell
            growth. This gene encodes the integrin beta 4 subunit, a receptor
            for the laminins. This subunit tends to associate with alpha 6
            subunit and is likely to play a pivotal role in the biology of
            invasive carcinoma. Mutations in this gene are associated with
            epidermolysis bullosa with pyloric atresia. Multiple alternatively
            spliced transcript variants encoding distinct isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5896
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..5896
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="integrin subunit beta 4"
                     /db_xref="GeneID:3691"
                     /db_xref="HGNC:HGNC:6158"
                     /db_xref="MIM:147557"
     CDS             165..5633
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; CD104 antigen"
                     /codon_start=1
                     /product="integrin beta-4 isoform 1 precursor"
                     /protein_id="NP_000204.3"
                     /db_xref="CCDS:CCDS11727.1"
                     /db_xref="GeneID:3691"
                     /db_xref="HGNC:HGNC:6158"
                     /db_xref="MIM:147557"
                     /translation="MAGPRPSPWARLLLAALISVSLSGTLANRCKKAPVKSCTECVRVD
                     KDCAYCTDEMFRDRRCNTQAELLAAGCQRESIVVMESSFQITEETQIDTTLRRSQMSPQ
                     GLRVRLRPGEERHFELEVFEPLESPVDLYILMDFSNSMSDDLDNLKKMGQNLARVLSQL
                     TSDYTIGFGKFVDKVSVPQTDMRPEKLKEPWPNSDPPFSFKNVISLTEDVDEFRNKLQG
                     ERISGNLDAPEGGFDAILQTAVCTRDIGWRPDSTHLLVFSTESAFHYEADGANVLAGIM
                     SRNDERCHLDTTGTYTQYRTQDYPSVPTLVRLLAKHNIIPIFAVTNYSYSYYEKLHTYF
                     PVSSLGVLQEDSSNIVELLEEAFNRIRSNLDIRALDSPRGLRTEVTSKMFQKTRTGSFH
                     IRRGEVGIYQVQLRALEHVDGTHVCQLPEDQKGNIHLKPSFSDGLKMDAGIICDVCTCE
                     LQKEVRSARCSFNGDFVCGQCVCSEGWSGQTCNCSTGSLSDIQPCLREGEDKPCSGRGE
                     CQCGHCVCYGEGRYEGQFCEYDNFQCPRTSGFLCNDRGRCSMGQCVCEPGWTGPSCDCP
                     LSNATCIDSNGGICNGRGHCECGRCHCHQQSLYTDTICEINYSAIHPGLCEDLRSCVQC
                     QAWGTGEKKGRTCEECNFKVKMVDELKRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGP
                     NSTVLVHKKKDCPPGSFWWLIPLLLLLLPLLALLLLLCWKYCACCKACLALLPCCNRGH
                     MVGFKEDHYMLRENLMASDHLDTPMLRSGNLKGRDVVRWKVTNNMQRPGFATHAASINP
                     TELVPYGLSLRLARLCTENLLKPDTRECAQLRQEVEENLNEVYRQISGVHKLQQTKFRQ
                     QPNAGKKQDHTIVDTVLMAPRSAKPALLKLTEKQVEQRAFHDLKVAPGYYTLTADQDAR
                     GMVEFQEGVELVDVRVPLFIRPEDDDEKQLLVEAIDVPAGTATLGRRLVNITIIKEQAR
                     DVVSFEQPEFSVSRGDQVARIPVIRRVLDGGKSQVSYRTQDGTAQGNRDYIPVEGELLF
                     QPGEAWKELQVKLLELQEVDSLLRGRQVRRFHVQLSNPKFGAHLGQPHSTTIIIRDPDE
                     LDRSFTSQMLSSQPPPHGDLGAPQNPNAKAAGSRKIHFNWLPPSGKPMGYRVKYWIQGD
                     SESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYGAQGEGPYSSLVSCRTHQEVPSEPGR
                     LAFNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNDDNRPIGPMKKVLVDNPKNRMLL
                     IENLRESQPYRYTVKARNGAGWGPEREAIINLATQPKRPMSIPIIPDIPIVDAQSGEDY
                     DSFLMYSDDVLRSPSGSQRPSVSDDTGCGWKFEPLLGEELDLRRVTWRLPPELIPRLSA
                     SSGRSSDAEAPHGPPDDGGAGGKGGSLPRSATPGPPGEHLVNGRMDFAFPGSTNSLHRM
                     TTTSAAAYGTHLSPHVPHRVLSTSSTLTRDYNSLTRSEHSHSTTLPRDYSTLTSVSSHD
                     SRLTAGVPDTPTRLVFSALGPTSLRVSWQEPRCERPLQGYSVEYQLLNGGELHRLNIPN
                     PAQTSVVVEDLLPNHSYVFRVRAQSQEGWGREREGVITIESQVHPQSPLCPLPGSAFTL
                     STPSAPGPLVFTALSPDSLQLSWERPRRPNGDIVGYLVTCEMAQGGGPATAFRVDGDSP
                     ESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQDGGPFPQLGSRAGLFQHPL
                     QSEYSSITTTHTSATEPFLVDGLTLGAQHLEAGGSLTRHVTQEFVSRTLTTSGTLSTHM
                     DQQFFQT"
     sig_peptide     165..245
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     246..5630
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /product="Integrin beta-4. /id=PRO_0000016346"
                     /note="propagated from UniProtKB/Swiss-Prot (P16144.5)"
     misc_feature    744..761
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="propagated from UniProtKB/Swiss-Prot (P16144.5);
                     Region: Involved in NRG1-and IGF1-binding.
                     /evidence=ECO:0000269|PubMed:20682778,
                     ECO:0000269|PubMed:22351760"
     misc_feature    1143..1145
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16144.5); glycosylation site"
     misc_feature    1635..1637
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16144.5); glycosylation site"
     misc_feature    1899..1901
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16144.5); glycosylation site"
     misc_feature    2013..2015
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16144.5); glycosylation site"
     misc_feature    2247..2249
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P16144.5); glycosylation site"
     misc_feature    2295..2363
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="propagated from UniProtKB/Swiss-Prot (P16144.5);
                     transmembrane region"
     misc_feature    2358..2411
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="propagated from UniProtKB/Swiss-Prot (P16144.5);
                     Region: Palmitoylated on several cysteines"
     misc_feature    2475..2477
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64632; propagated from
                     UniProtKB/Swiss-Prot (P16144.5); phosphorylation site"
     misc_feature    3369..3371
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16144.5); phosphorylation site"
     misc_feature    3501..3584
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="propagated from UniProtKB/Swiss-Prot (P16144.5);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3519..3521
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64632; propagated from
                     UniProtKB/Swiss-Prot (P16144.5); phosphorylation site"
     misc_feature    4362..4496
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="propagated from UniProtKB/Swiss-Prot (P16144.5);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4524..4526
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16144.5); phosphorylation site"
     misc_feature    4533..4535
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16144.5); phosphorylation site"
     misc_feature    4584..4586
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16144.5); phosphorylation site"
     misc_feature    4623..4625
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16144.5); phosphorylation site"
     misc_feature    4644..4646
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64632; propagated from
                     UniProtKB/Swiss-Prot (P16144.5); phosphorylation site"
     misc_feature    4647..4739
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="propagated from UniProtKB/Swiss-Prot (P16144.5);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4752..4754
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16144.5); phosphorylation site"
     misc_feature    5535..5537
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64632; propagated from
                     UniProtKB/Swiss-Prot (P16144.5); phosphorylation site"
     regulatory      5874..5879
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="hexamer: AATAAA"
     polyA_site      5896
                     /gene="ITGB4"
                     /gene_synonym="CD104; GP150; JEB5A; JEB5B"
                     /note="major polyA site"
ORIGIN
        1 cccccaaccc ccgcgcccgc cctcggacag tccctgctcg cccgcgcgct gcagccccat
       61 ctcctagcgg cagcccaggc gcggagggag cgagtccgcc ccgaggtagg tccaggacgg
      121 gcgcacagca gcagccgagg ctggccggga gagggaggaa gaggatggca gggccacgcc
      181 ccagcccatg ggccaggctg ctcctggcag ccttgatcag cgtcagcctc tctgggacct
      241 tggcaaaccg ctgcaagaag gccccagtga agagctgcac ggagtgtgtc cgtgtggata
      301 aggactgcgc ctactgcaca gacgagatgt tcagggaccg gcgctgcaac acccaggcgg
      361 agctgctggc cgcgggctgc cagcgggaga gcatcgtggt catggagagc agcttccaaa
      421 tcacagagga gacccagatt gacaccaccc tgcggcgcag ccagatgtcc ccccaaggcc
      481 tgcgggtccg tctgcggccc ggtgaggagc ggcattttga gctggaggtg tttgagccac
      541 tggagagccc cgtggacctg tacatcctca tggacttctc caactccatg tccgatgatc
      601 tggacaacct caagaagatg gggcagaacc tggctcgggt cctgagccag ctcaccagcg
      661 actacactat tggatttggc aagtttgtgg acaaagtcag cgtcccgcag acggacatga
      721 ggcctgagaa gctgaaggag ccctggccca acagtgaccc ccccttctcc ttcaagaacg
      781 tcatcagcct gacagaagat gtggatgagt tccggaataa actgcaggga gagcggatct
      841 caggcaacct ggatgctcct gagggcggct tcgatgccat cctgcagaca gctgtgtgca
      901 cgagggacat tggctggcgc ccggacagca cccacctgct ggtcttctcc accgagtcag
      961 ccttccacta tgaggctgat ggcgccaacg tgctggctgg catcatgagc cgcaacgatg
     1021 aacggtgcca cctggacacc acgggcacct acacccagta caggacacag gactacccgt
     1081 cggtgcccac cctggtgcgc ctgctcgcca agcacaacat catccccatc tttgctgtca
     1141 ccaactactc ctatagctac tacgagaagc ttcacaccta tttccctgtc tcctcactgg
     1201 gggtgctgca ggaggactcg tccaacatcg tggagctgct ggaggaggcc ttcaatcgga
     1261 tccgctccaa cctggacatc cgggccctag acagcccccg aggccttcgg acagaggtca
     1321 cctccaagat gttccagaag acgaggactg ggtcctttca catccggcgg ggggaagtgg
     1381 gtatatacca ggtgcagctg cgggcccttg agcacgtgga tgggacgcac gtgtgccagc
     1441 tgccggagga ccagaagggc aacatccatc tgaaaccttc cttctccgac ggcctcaaga
     1501 tggacgcggg catcatctgt gatgtgtgca cctgcgagct gcaaaaagag gtgcggtcag
     1561 ctcgctgcag cttcaacgga gacttcgtgt gcggacagtg tgtgtgcagc gagggctgga
     1621 gtggccagac ctgcaactgc tccaccggct ctctgagtga cattcagccc tgcctgcggg
     1681 agggcgagga caagccgtgc tccggccgtg gggagtgcca gtgcgggcac tgtgtgtgct
     1741 acggcgaagg ccgctacgag ggtcagttct gcgagtatga caacttccag tgtccccgca
     1801 cttccgggtt cctctgcaat gaccgaggac gctgctccat gggccagtgt gtgtgtgagc
     1861 ctggttggac aggcccaagc tgtgactgtc ccctcagcaa tgccacctgc atcgacagca
     1921 atgggggcat ctgtaatgga cgtggccact gtgagtgtgg ccgctgccac tgccaccagc
     1981 agtcgctcta cacggacacc atctgcgaga tcaactactc ggcgatccac ccgggcctct
     2041 gcgaggacct acgctcctgc gtgcagtgcc aggcgtgggg caccggcgag aagaaggggc
     2101 gcacgtgtga ggaatgcaac ttcaaggtca agatggtgga cgagcttaag agagccgagg
     2161 aggtggtggt gcgctgctcc ttccgggacg aggatgacga ctgcacctac agctacacca
     2221 tggaaggtga cggcgcccct gggcccaaca gcactgtcct ggtgcacaag aagaaggact
     2281 gccctccggg ctccttctgg tggctcatcc ccctgctcct cctcctcctg ccgctcctgg
     2341 ccctgctact gctgctatgc tggaagtact gtgcctgctg caaggcctgc ctggcacttc
     2401 tcccgtgctg caaccgaggt cacatggtgg gctttaagga agaccactac atgctgcggg
     2461 agaacctgat ggcctctgac cacttggaca cgcccatgct gcgcagcggg aacctcaagg
     2521 gccgtgacgt ggtccgctgg aaggtcacca acaacatgca gcggcctggc tttgccactc
     2581 atgccgccag catcaacccc acagagctgg tgccctacgg gctgtccttg cgcctggccc
     2641 gcctttgcac cgagaacctg ctgaagcctg acactcggga gtgcgcccag ctgcgccagg
     2701 aggtggagga gaacctgaac gaggtctaca ggcagatctc cggtgtacac aagctccagc
     2761 agaccaagtt ccggcagcag cccaatgccg ggaaaaagca agaccacacc attgtggaca
     2821 cagtgctgat ggcgccccgc tcggccaagc cggccctgct gaagcttaca gagaagcagg
     2881 tggaacagag ggccttccac gacctcaagg tggcccccgg ctactacacc ctcactgcag
     2941 accaggacgc ccggggcatg gtggagttcc aggagggcgt ggagctggtg gacgtacggg
     3001 tgcccctctt tatccggcct gaggatgacg acgagaagca gctgctggtg gaggccatcg
     3061 acgtgcccgc aggcactgcc accctcggcc gccgcctggt aaacatcacc atcatcaagg
     3121 agcaagccag agacgtggtg tcctttgagc agcctgagtt ctcggtcagc cgcggggacc
     3181 aggtggcccg catccctgtc atccggcgtg tcctggacgg cgggaagtcc caggtctcct
     3241 accgcacaca ggatggcacc gcgcagggca accgggacta catccccgtg gagggtgagc
     3301 tgctgttcca gcctggggag gcctggaaag agctgcaggt gaagctcctg gagctgcaag
     3361 aagttgactc cctcctgcgg ggccgccagg tccgccgttt ccacgtccag ctcagcaacc
     3421 ctaagtttgg ggcccacctg ggccagcccc actccaccac catcatcatc agggacccag
     3481 atgaactgga ccggagcttc acgagtcaga tgttgtcatc acagccaccc cctcacggcg
     3541 acctgggcgc cccgcagaac cccaatgcta aggccgctgg gtccaggaag atccatttca
     3601 actggctgcc cccttctggc aagccaatgg ggtacagggt aaagtactgg attcagggtg
     3661 actccgaatc cgaagcccac ctgctcgaca gcaaggtgcc ctcagtggag ctcaccaacc
     3721 tgtacccgta ttgcgactat gagatgaagg tgtgcgccta cggggctcag ggcgagggac
     3781 cctacagctc cctggtgtcc tgccgcaccc accaggaagt gcccagcgag ccagggcgtc
     3841 tggccttcaa tgtcgtctcc tccacggtga cccagctgag ctgggctgag ccggctgaga
     3901 ccaacggtga gatcacagcc tacgaggtct gctatggcct ggtcaacgat gacaaccgac
     3961 ctattgggcc catgaagaaa gtgctggttg acaaccctaa gaaccggatg ctgcttattg
     4021 agaaccttcg ggagtcccag ccctaccgct acacggtgaa ggcgcgcaac ggggccggct
     4081 gggggcctga gcgggaggcc atcatcaacc tggccaccca gcccaagagg cccatgtcca
     4141 tccccatcat ccctgacatc cctatcgtgg acgcccagag cggggaggac tacgacagct
     4201 tccttatgta cagcgatgac gttctacgct ctccatcggg cagccagagg cccagcgtct
     4261 ccgatgacac tggctgcggc tggaagttcg agcccctgct gggggaggag ctggacctgc
     4321 ggcgcgtcac gtggcggctg cccccggagc tcatcccgcg cctgtcggcc agcagcgggc
     4381 gctcctccga cgccgaggcg ccccacgggc ccccggacga cggcggcgcg ggcgggaagg
     4441 gcggcagcct gccccgcagt gcgacacccg ggccccccgg agagcacctg gtgaatggcc
     4501 ggatggactt tgccttcccg ggcagcacca actccctgca caggatgacc acgaccagtg
     4561 ctgctgccta tggcacccac ctgagcccac acgtgcccca ccgcgtgcta agcacatcct
     4621 ccaccctcac acgggactac aactcactga cccgctcaga acactcacac tcgaccacac
     4681 tgcccaggga ctactccacc ctcacctccg tctcctccca cgactctcgc ctgactgctg
     4741 gtgtgcccga cacgcccacc cgcctggtgt tctctgccct ggggcccaca tctctcagag
     4801 tgagctggca ggagccgcgg tgcgagcggc cgctgcaggg ctacagtgtg gagtaccagc
     4861 tgctgaacgg cggtgagctg catcggctca acatccccaa ccctgcccag acctcggtgg
     4921 tggtggaaga cctcctgccc aaccactcct acgtgttccg cgtgcgggcc cagagccagg
     4981 aaggctgggg ccgagagcgt gagggtgtca tcaccattga atcccaggtg cacccgcaga
     5041 gcccactgtg tcccctgcca ggctccgcct tcactttgag cactcccagt gccccaggcc
     5101 cgctggtgtt cactgccctg agcccagact cgctgcagct gagctgggag cggccacgga
     5161 ggcccaatgg ggatatcgtc ggctacctgg tgacctgtga gatggcccaa ggaggagggc
     5221 cagccaccgc attccgggtg gatggagaca gccccgagag ccggctgacc gtgccgggcc
     5281 tcagcgagaa cgtgccctac aagttcaagg tgcaggccag gaccactgag ggcttcgggc
     5341 cagagcgcga gggcatcatc accatagagt cccaggatgg aggacccttc ccgcagctgg
     5401 gcagccgtgc cgggctcttc cagcacccgc tgcaaagcga gtacagcagc atcaccacca
     5461 cccacaccag cgccaccgag cccttcctag tggatgggct gaccctgggg gcccagcacc
     5521 tggaggcagg cggctccctc acccggcatg tgacccagga gtttgtgagc cggacactga
     5581 ccaccagcgg aacccttagc acccacatgg accaacagtt cttccaaact tgaccgcacc
     5641 ctgccccacc cccgccacgt cccactaggc gtcctcccga ctcctctccc ggagcctcct
     5701 cagctactcc atccttgcac ccctgggggc ccagcccacc cgcatgcaca gagcaggggc
     5761 taggtgtctc ctgggaggca tgaagggggc aaggtccgtc ctctgtgggc ccaaacctat
     5821 ttgtaaccaa agagctggga gcagcacaag gacccagcct ttgttctgca cttaataaat
     5881 ggttttgcta ctgcta
//
LOCUS       NM_000214               5940 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens jagged canonical Notch ligand 1 (JAG1), mRNA.
ACCESSION   NM_000214
VERSION     NM_000214.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5940)
  AUTHORS   Chen Y, Liao G, Ma T, Li L, Yang J, Shen B, Lu Y and Si H.
  TITLE     YY1/miR-140-5p/Jagged1/Notch axis mediates cartilage progenitor/stem
            cells fate reprogramming in knee osteoarthritis
  JOURNAL   Int Immunopharmacol 121, 110438 (2023)
   PUBMED   37295026
  REMARK    GeneRIF: YY1/miR-140-5p/Jagged1/Notch axis mediates cartilage
            progenitor/stem cells fate reprogramming in knee osteoarthritis.
REFERENCE   2  (bases 1 to 5940)
  AUTHORS   Qiao X, Ma B, Sun W, Zhang N, Liu Y, Jia L and Liu C.
  TITLE     JAG1 is associated with the prognosis and metastasis in breast
            cancer
  JOURNAL   Sci Rep 12 (1), 21986 (2022)
   PUBMED   36539520
  REMARK    GeneRIF: JAG1 is associated with the prognosis and metastasis in
            breast cancer. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5940)
  AUTHORS   Chansaenroj A, Kornsuthisopon C, Roytrakul S, Phothichailert S,
            Rochanavibhata S, Fournier BPJ, Srithanyarat SS, Nowwarote N and
            Osathanon T.
  TITLE     Indirect Immobilised Jagged-1 Enhances Matrisome Proteins Associated
            with Osteogenic Differentiation of Human Dental Pulp Stem Cells: A
            Proteomic Study
  JOURNAL   Int J Mol Sci 23 (22), 13897 (2022)
   PUBMED   36430375
  REMARK    GeneRIF: Indirect Immobilised Jagged-1 Enhances Matrisome Proteins
            Associated with Osteogenic Differentiation of Human Dental Pulp Stem
            Cells: A Proteomic Study. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5940)
  AUTHORS   Meng Y, Sanlidag S, Jensen SA, Burnap SA, Struwe WB, Larsen AH, Feng
            X, Mittal S, Sansom MSP, Sahlgren C and Handford PA.
  TITLE     An N-glycan on the C2 domain of JAGGED1 is important for Notch
            activation
  JOURNAL   Sci Signal 15 (755), eabo3507 (2022)
   PUBMED   36219682
  REMARK    GeneRIF: An N-glycan on the C2 domain of JAGGED1 is important for
            Notch activation.
REFERENCE   5  (bases 1 to 5940)
  AUTHORS   Souilhol C, Tardajos Ayllon B, Li X, Diagbouga MR, Zhou Z, Canham L,
            Roddie H, Pirri D, Chambers EV, Dunning MJ, Ariaans M, Li J, Fang Y,
            Jorgensen HF, Simons M, Krams R, Waltenberger J, Fragiadaki M,
            Ridger V, De Val S, Francis SE, Chico TJ, Serbanovic-Canic J and
            Evans PC.
  TITLE     JAG1-NOTCH4 mechanosensing drives atherosclerosis
  JOURNAL   Sci Adv 8 (35), eabo7958 (2022)
   PUBMED   36044575
  REMARK    GeneRIF: JAG1-NOTCH4 mechanosensing drives atherosclerosis.
REFERENCE   6  (bases 1 to 5940)
  AUTHORS   Zimrin AB, Pepper MS, McMahon GA, Nguyen F, Montesano R and Maciag
            T.
  TITLE     An antisense oligonucleotide to the notch ligand jagged enhances
            fibroblast growth factor-induced angiogenesis in vitro
  JOURNAL   J Biol Chem 271 (51), 32499-32502 (1996)
   PUBMED   8955070
REFERENCE   7  (bases 1 to 5940)
  AUTHORS   Genini M, Schwalbe P, Scholl FA and Schafer BW.
  TITLE     Isolation of genes differentially expressed in human primary
            myoblasts and embryonal rhabdomyosarcoma
  JOURNAL   Int J Cancer 66 (4), 571-577 (1996)
   PUBMED   8635876
REFERENCE   8  (bases 1 to 5940)
  AUTHORS   Lindsell CE, Boulter J, diSibio G, Gossler A and Weinmaster G.
  TITLE     Expression patterns of Jagged, Delta1, Notch1, Notch2, and Notch3
            genes identify ligand-receptor pairs that may function in neural
            development
  JOURNAL   Mol Cell Neurosci 8 (1), 14-27 (1996)
   PUBMED   8923452
REFERENCE   9  (bases 1 to 5940)
  AUTHORS   Lindsell CE, Shawber CJ, Boulter J and Weinmaster G.
  TITLE     Jagged: a mammalian ligand that activates Notch1
  JOURNAL   Cell 80 (6), 909-917 (1995)
   PUBMED   7697721
REFERENCE   10  (bases 1 to 5940)
  AUTHORS   Spinner,N.B., Gilbert,M.A., Loomes,K.M. and Krantz,I.D.
  TITLE     Alagille Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301450
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF003837.1, BC098393.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000254958.10/ ENSP00000254958.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF056748.1, U73936.1,
            AF028593.1, AA933912.1 and AI268246.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 8, 2018 this sequence version replaced NM_000214.2.
            Summary: The jagged 1 protein encoded by JAG1 is the human homolog
            of the Drosophilia jagged protein. Human jagged 1 is the ligand for
            the receptor notch 1, the latter is involved in signaling
            processes. Mutations that alter the jagged 1 protein cause Alagille
            syndrome. Jagged 1 signalling through notch 1 has also been shown
            to play a role in hematopoiesis. [provided by RefSeq, Nov 2019].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5940
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.2"
     gene            1..5940
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="jagged canonical Notch ligand 1"
                     /db_xref="GeneID:182"
                     /db_xref="HGNC:HGNC:6188"
                     /db_xref="MIM:601920"
     misc_feature    359..361
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="upstream in-frame stop codon"
     CDS             470..4126
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="protein jagged-1"
                     /codon_start=1
                     /product="protein jagged-1 precursor"
                     /protein_id="NP_000205.1"
                     /db_xref="CCDS:CCDS13112.1"
                     /db_xref="GeneID:182"
                     /db_xref="HGNC:HGNC:6188"
                     /db_xref="MIM:601920"
                     /translation="MRSPRTRGRSGRPLSLLLALLCALRAKVCGASGQFELEILSMQNV
                     NGELQNGNCCGGARNPGDRKCTRDECDTYFKVCLKEYQSRVTAGGPCSFGSGSTPVIGG
                     NTFNLKASRGNDRNRIVLPFSFAWPRSYTLLVEAWDSSNDTVQPDSIIEKASHSGMINP
                     SRQWQTLKQNTGVAHFEYQIRVTCDDYYYGFGCNKFCRPRDDFFGHYACDQNGNKTCME
                     GWMGPECNRAICRQGCSPKHGSCKLPGDCRCQYGWQGLYCDKCIPHPGCVHGICNEPWQ
                     CLCETNWGGQLCDKDLNYCGTHQPCLNGGTCSNTGPDKYQCSCPEGYSGPNCEIAEHAC
                     LSDPCHNRGSCKETSLGFECECSPGWTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCV
                     CPPQWTGKTCQLDANECEAKPCVNAKSCKNLIASYYCDCLPGWMGQNCDININDCLGQC
                     QNDASCRDLVNGYRCICPPGYAGDHCERDIDECASNPCLNGGHCQNEINRFQCLCPTGF
                     SGNLCQLDIDYCEPNPCQNGAQCYNRASDYFCKCPEDYEGKNCSHLKDHCRTTPCEVID
                     SCTVAMASNDTPEGVRYISSNVCGPHGKCKSQSGGKFTCDCNKGFTGTYCHENINDCES
                     NPCRNGGTCIDGVNSYKCICSDGWEGAYCETNINDCSQNPCHNGGTCRDLVNDFYCDCK
                     NGWKGKTCHSRDSQCDEATCNNGGTCYDEGDAFKCMCPGGWEGTTCNIARNSSCLPNPC
                     HNGGTCVVNGESFTCVCKEGWEGPICAQNTNDCSPHPCYNSGTCVDGDNWYRCECAPGF
                     AGPDCRININECQSSPCAFGATCVDEINGYRCVCPPGHSGAKCQEVSGRPCITMGSVIP
                     DGAKWDDDCNTCQCLNGRIACSKVWCGPRPCLLHKGHSECPSGQSCIPILDDQCFVHPC
                     TGVGECRSSSLQPVKTKCTSDSYYQDNCANITFTFNKEMMSPGLTTEHICSELRNLNIL
                     KNVSAEYSIYIACEPSPSANNEIHVAISAEDIRDDGNPIKEITDKIIDLVSKRDGNSSL
                     IAAVAEVRVQRRPLKNRTDFLVPLLSSVLTVAWICCLVTAFYWCLRKRRKPGSHTHSAS
                     EDNTTNNVREQLNQIKNPIEKHGANTVPIKDYENKNSKMSKIRTHNSEVEEDDMDKHQQ
                     KARFAKQPAYTLVDREEKPPNGTPTKHPNWTNKQDNRDLESAQSLNRMEYIV"
     sig_peptide     470..568
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P78504.3)"
     mat_peptide     569..4123
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /product="Protein jagged-1. /id=PRO_0000007625"
                     /note="propagated from UniProtKB/Swiss-Prot (P78504.3)"
     misc_feature    896..898
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78504.3); glycosylation site"
     misc_feature    1064..1090
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78504.3);
                     Region: Important for interaction with NOTCH1.
                     /evidence=ECO:0000269|PubMed:18660822"
     misc_feature    1118..1120
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78504.3); glycosylation site"
     misc_feature    1613..1615
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78504.3); glycosylation site"
     misc_feature    2144..2146
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78504.3); glycosylation site"
     misc_feature    2702..2704
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78504.3); glycosylation site"
     misc_feature    3347..3349
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78504.3); glycosylation site"
     misc_feature    3440..3442
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78504.3); glycosylation site"
     misc_feature    3602..3604
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78504.3); glycosylation site"
     misc_feature    3659..3661
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78504.3); glycosylation site"
     misc_feature    3671..3748
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78504.3);
                     transmembrane region"
     misc_feature    3923..4123
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78504.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      5625..5630
                     /regulatory_class="polyA_signal_sequence"
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="hexamer: ATTAAA"
     polyA_site      5650
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
     regulatory      5916..5921
                     /regulatory_class="polyA_signal_sequence"
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="hexamer: AATAAA"
     polyA_site      5940
                     /gene="JAG1"
                     /gene_synonym="AGS; AGS1; AHD; AWS; CD339; CMT2HH; DCHE;
                     HJ1; JAGL1"
                     /note="major polyA site"
ORIGIN
        1 agacgggctc tccgggtcct tctccgagag ccgggcgggc acgcgtcatt gtgttacctg
       61 cggccggccc gcgagctagg ctggtttttt tttttctccc ctccctcccc cctttttcca
      121 tgcagctgat ctaaaaggga ataaaaggct gcgcataatc ataataataa aagaagggga
      181 gcgcgagaga aggaaagaaa gccgggaggt ggaagaggag ggggagcgtc tcaaagaagc
      241 gatcagaata ataaaaggag gccgggctct ttgccttctg gaacgggccg ctcttgaaag
      301 ggcttttgaa aagtggtgtt gttttccagt cgtgcatgct ccaatcggcg gagtatatta
      361 gagccgggac gcggcggccg caggggcagc ggcgacggca gcaccggcgg cagcaccagc
      421 gcgaacagca gcggcggcgt cccgagtgcc cgcggcgcgc ggcgcagcga tgcgttcccc
      481 acggacgcgc ggccggtccg ggcgccccct aagcctcctg ctcgccctgc tctgtgccct
      541 gcgagccaag gtgtgtgggg cctcgggtca gttcgagttg gagatcctgt ccatgcagaa
      601 cgtgaacggg gagctgcaga acgggaactg ctgcggcggc gcccggaacc cgggagaccg
      661 caagtgcacc cgcgacgagt gtgacacata cttcaaagtg tgcctcaagg agtatcagtc
      721 ccgcgtcacg gccggggggc cctgcagctt cggctcaggg tccacgcctg tcatcggggg
      781 caacaccttc aacctcaagg ccagccgcgg caacgaccgc aaccgcatcg tgctgccttt
      841 cagtttcgcc tggccgaggt cctatacgtt gcttgtggag gcgtgggatt ccagtaatga
      901 caccgttcaa cctgacagta ttattgaaaa ggcttctcac tcgggcatga tcaaccccag
      961 ccggcagtgg cagacgctga agcagaacac gggcgttgcc cactttgagt atcagatccg
     1021 cgtgacctgt gatgactact actatggctt tggctgcaat aagttctgcc gccccagaga
     1081 tgacttcttt ggacactatg cctgtgacca gaatggcaac aaaacttgca tggaaggctg
     1141 gatgggcccc gaatgtaaca gagctatttg ccgacaaggc tgcagtccta agcatgggtc
     1201 ttgcaaactc ccaggtgact gcaggtgcca gtacggctgg caaggcctgt actgtgataa
     1261 gtgcatccca cacccgggat gcgtccacgg catctgtaat gagccctggc agtgcctctg
     1321 tgagaccaac tggggcggcc agctctgtga caaagatctc aattactgtg ggactcatca
     1381 gccgtgtctc aacgggggaa cttgtagcaa cacaggccct gacaaatatc agtgttcctg
     1441 ccctgagggg tattcaggac ccaactgtga aattgctgag cacgcctgcc tctctgatcc
     1501 ctgtcacaac agaggcagct gtaaggagac ctccctgggc tttgagtgtg agtgttcccc
     1561 aggctggacc ggccccacat gctctacaaa cattgatgac tgttctccta ataactgttc
     1621 ccacgggggc acctgccagg acctggttaa cggatttaag tgtgtgtgcc ccccacagtg
     1681 gactgggaaa acgtgccagt tagatgcaaa tgaatgtgag gccaaacctt gtgtaaacgc
     1741 caaatcctgt aagaatctca ttgccagcta ctactgcgac tgtcttcccg gctggatggg
     1801 tcagaattgt gacataaata ttaatgactg ccttggccag tgtcagaatg acgcctcctg
     1861 tcgggatttg gttaatggtt atcgctgtat ctgtccacct ggctatgcag gcgatcactg
     1921 tgagagagac atcgatgaat gtgccagcaa cccctgtttg aatgggggtc actgtcagaa
     1981 tgaaatcaac agattccagt gtctgtgtcc cactggtttc tctggaaacc tctgtcagct
     2041 ggacatcgat tattgtgagc ctaatccctg ccagaacggt gcccagtgct acaaccgtgc
     2101 cagtgactat ttctgcaagt gccccgagga ctatgagggc aagaactgct cacacctgaa
     2161 agaccactgc cgcacgaccc cctgtgaagt gattgacagc tgcacagtgg ccatggcttc
     2221 caacgacaca cctgaagggg tgcggtatat ttcctccaac gtctgtggtc ctcacgggaa
     2281 gtgcaagagt cagtcgggag gcaaattcac ctgtgactgt aacaaaggct tcacgggaac
     2341 atactgccat gaaaatatta atgactgtga gagcaaccct tgtagaaacg gtggcacttg
     2401 catcgatggt gtcaactcct acaagtgcat ctgtagtgac ggctgggagg gggcctactg
     2461 tgaaaccaat attaatgact gcagccagaa cccctgccac aatgggggca cgtgtcgcga
     2521 cctggtcaat gacttctact gtgactgtaa aaatgggtgg aaaggaaaga cctgccactc
     2581 acgtgacagt cagtgtgatg aggccacgtg caacaacggt ggcacctgct atgatgaggg
     2641 ggatgctttt aagtgcatgt gtcctggcgg ctgggaagga acaacctgta acatagcccg
     2701 aaacagtagc tgcctgccca acccctgcca taatgggggc acatgtgtgg tcaacggcga
     2761 gtcctttacg tgcgtctgca aggaaggctg ggaggggccc atctgtgctc agaataccaa
     2821 tgactgcagc cctcatccct gttacaacag cggcacctgt gtggatggag acaactggta
     2881 ccggtgcgaa tgtgccccgg gttttgctgg gcccgactgc agaataaaca tcaatgaatg
     2941 ccagtcttca ccttgtgcct ttggagcgac ctgtgtggat gagatcaatg gctaccggtg
     3001 tgtctgccct ccagggcaca gtggtgccaa gtgccaggaa gtttcaggga gaccttgcat
     3061 caccatgggg agtgtgatac cagatggggc caaatgggat gatgactgta atacctgcca
     3121 gtgcctgaat ggacggatcg cctgctcaaa ggtctggtgt ggccctcgac cttgcctgct
     3181 ccacaaaggg cacagcgagt gccccagcgg gcagagctgc atccccatcc tggacgacca
     3241 gtgcttcgtc cacccctgca ctggtgtggg cgagtgtcgg tcttccagtc tccagccggt
     3301 gaagacaaag tgcacctctg actcctatta ccaggataac tgtgcgaaca tcacatttac
     3361 ctttaacaag gagatgatgt caccaggtct tactacggag cacatttgca gtgaattgag
     3421 gaatttgaat attttgaaga atgtttccgc tgaatattca atctacatcg cttgcgagcc
     3481 ttccccttca gcgaacaatg aaatacatgt ggccatttct gctgaagata tacgggatga
     3541 tgggaacccg atcaaggaaa tcactgacaa aataatcgat cttgttagta aacgtgatgg
     3601 aaacagctcg ctgattgctg ccgttgcaga agtaagagtt cagaggcggc ctctgaagaa
     3661 cagaacagat ttccttgttc ccttgctgag ctctgtctta actgtggctt ggatctgttg
     3721 cttggtgacg gccttctact ggtgcctgcg gaagcggcgg aagccgggca gccacacaca
     3781 ctcagcctct gaggacaaca ccaccaacaa cgtgcgggag cagctgaacc agatcaaaaa
     3841 ccccattgag aaacatgggg ccaacacggt ccccatcaag gattatgaga acaagaactc
     3901 caaaatgtct aaaataagga cacacaattc tgaagtagaa gaggacgaca tggacaaaca
     3961 ccagcagaaa gcccggtttg ccaagcagcc ggcgtacacg ctggtagaca gagaagagaa
     4021 gccccccaac ggcacgccga caaaacaccc aaactggaca aacaaacagg acaacagaga
     4081 cttggaaagt gcccagagct taaaccgaat ggagtacatc gtatagcaga ccgcgggcac
     4141 tgccgccgct aggtagagtc tgagggcttg tagttcttta aactgtcgtg tcatactcga
     4201 gtctgaggcc gttgctgact tagaatccct gtgttaattt aagttttgac aagctggctt
     4261 acactggcaa tggtagtttc tgtggttggc tgggaaatcg agtgccgcat ctcacagcta
     4321 tgcaaaaagc tagtcaacag taccctggtt gtgtgtcccc ttgcagccga cacggtctcg
     4381 gatcaggctc ccaggagcct gcccagcccc ctggtctttg agctcccact tctgccagat
     4441 gtcctaatgg tgatgcagtc ttagatcata gttttattta tatttattga ctcttgagtt
     4501 gtttttgtat attggtttta tgatgacgta caagtagttc tgtatttgaa agtgcctttg
     4561 cagctcagaa ccacagcaac gatcacaaat gactttatta tttatttttt ttaattgtat
     4621 ttttgttgtt gggggagggg agactttgat gtcagcagtt gctggtaaaa tgaagaattt
     4681 aaagaaaaaa atgtcaaaag tagaactttg tatagttatg taaataattc ttttttatta
     4741 atcactgtgt atatttgatt tattaactta ataatcaaga gccttaaaac atcattcctt
     4801 tttatttata tgtatgtgtt tagaattgaa ggtttttgat agcattgtaa gcgtatggct
     4861 ttattttttt gaactcttct cattacttgt tgcctataag ccaaaattaa ggtgtttgaa
     4921 aatagtttat tttaaaacaa taggatgggc ttctgtgccc agaatactga tggaattttt
     4981 ttgtacgacg tcagatgttt aaaacacctt ctatagcatc acttaaaaca cgttttaagg
     5041 actgactgag gcagtttgag gattagttta gaacaggttt ttttgtttgt ttgttttttg
     5101 tttttctgct ttagacttga aaagagacag gcaggtgatc tgctgcagag cagtaaggga
     5161 acaagttgag ctatgactta acatagccaa aatgtgagtg gttgaatatg attaaaaata
     5221 tcaaattaat tgtgtgaact tggaagcaca ccaatcttac tttgtaaatt ctgatttctt
     5281 ttcaccattc gtacataata ctgaaccact tgtagatttg attttttttt ttaatctact
     5341 gcatttaggg agtattctaa taagctagtt gaatacttga accataaaat gtccagtaag
     5401 atcactgttt agatttgcca tagagtacac tgcctgcctt aagtgaggaa atcaaagtgc
     5461 tattacgaag ttcaagatca aaaaggctta taaaacagag taatcttgtt ggttcaccat
     5521 tgagaccgtg aagatacttt gtattgtcct attagtgtta tatgaacata caaatgcatc
     5581 tttgatgtgt tgttcttggc aataaatttt gaaaagtaat atttattaaa tttttttgta
     5641 tgaaaacatg gaacagtgtg gcctcttctg agcttacgta gttctaccgg ctttgccatg
     5701 tgcttctgcc accctgctga gtctgttctg gtaatcgggg tataataggc tctgcctgac
     5761 agagggatgg aggaagaact gaaaggcttt tcaaccacaa aactcatctg gagttctcaa
     5821 agacctgggg ctgctgtgaa gctggaactg cgggagcccc atctagggga gccttgattc
     5881 ccttgttatt caacagcaag tgtgaatact gcttgaataa acaccactgg attaatggcc
//
LOCUS       NM_000215               5386 bp    mRNA    linear   PRI 18-MAR-2023
DEFINITION  Homo sapiens Janus kinase 3 (JAK3), mRNA.
ACCESSION   NM_000215
VERSION     NM_000215.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5386)
  AUTHORS   Basheer F, Lee E, Liongue C and Ward AC.
  TITLE     Zebrafish Model of Severe Combined Immunodeficiency (SCID) Due to
            JAK3 Mutation
  JOURNAL   Biomolecules 12 (10), 1521 (2022)
   PUBMED   36291730
  REMARK    GeneRIF: Zebrafish Model of Severe Combined Immunodeficiency (SCID)
            Due to JAK3 Mutation. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5386)
  AUTHORS   Long Q, Huang C, Huang J, Meng Q, Cheng Y, Li Y, He L, Chen M, Zhang
            C, Wang X, Zhu W, Peng J, Shi D, Zheng F, Dong P and Deng W.
  TITLE     Prognostic value of JAK3 promoter methylation and mRNA expression in
            clear cell renal cell carcinoma
  JOURNAL   J Adv Res 40, 153-166 (2022)
   PUBMED   36100323
  REMARK    GeneRIF: Prognostic value of JAK3 promoter methylation and mRNA
            expression in clear cell renal cell carcinoma.
REFERENCE   3  (bases 1 to 5386)
  AUTHORS   Bodaar K, Yamagata N, Barthe A, Landrigan J, Chonghaile TN, Burns M,
            Stevenson KE, Devidas M, Loh ML, Hunger SP, Wood B, Silverman LB,
            Teachey DT, Meijerink JP, Letai A and Gutierrez A.
  TITLE     JAK3 mutations and mitochondrial apoptosis resistance in T-cell
            acute lymphoblastic leukemia
  JOURNAL   Leukemia 36 (6), 1499-1507 (2022)
   PUBMED   35411095
  REMARK    GeneRIF: JAK3 mutations and mitochondrial apoptosis resistance in
            T-cell acute lymphoblastic leukemia.
REFERENCE   4  (bases 1 to 5386)
  AUTHORS   Okabe N, Fujiwara M, Tachibana K, Tanaka R, Kondo H and Kamma H.
  TITLE     STAT3 activation in thymic epithelial tumors: correlation with
            cyclin D1, JAK3, and clinical behavior
  JOURNAL   Gen Thorac Cardiovasc Surg 69 (11), 1482-1491 (2021)
   PUBMED   34061303
  REMARK    GeneRIF: STAT3 activation in thymic epithelial tumors: correlation
            with cyclin D1, JAK3, and clinical behavior.
REFERENCE   5  (bases 1 to 5386)
  AUTHORS   Remenyi J, Naik RJ, Wang J, Razsolkov M, Verano A, Cai Q, Tan L,
            Toth R, Raggett S, Baillie C, Traynor R, Hastie CJ, Gray NS and
            Arthur JSC.
  TITLE     Generation of a chemical genetic model for JAK3
  JOURNAL   Sci Rep 11 (1), 10093 (2021)
   PUBMED   33980892
  REMARK    GeneRIF: Generation of a chemical genetic model for JAK3.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5386)
  AUTHORS   Johnston JA, Wang LM, Hanson EP, Sun XJ, White MF, Oakes SA, Pierce
            JH and O'Shea JJ.
  TITLE     Interleukins 2, 4, 7, and 15 stimulate tyrosine phosphorylation of
            insulin receptor substrates 1 and 2 in T cells. Potential role of
            JAK kinases
  JOURNAL   J Biol Chem 270 (48), 28527-28530 (1995)
   PUBMED   7499365
REFERENCE   7  (bases 1 to 5386)
  AUTHORS   Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MJ,
            Migone TS, Noguchi M, Markert ML, Buckley RH, O'Shea JJ and Leonard
            WJ.
  TITLE     Mutation of Jak3 in a patient with SCID: essential role of Jak3 in
            lymphoid development
  JOURNAL   Science 270 (5237), 797-800 (1995)
   PUBMED   7481768
REFERENCE   8  (bases 1 to 5386)
  AUTHORS   Lai KS, Jin Y, Graham DK, Witthuhn BA, Ihle JN and Liu ET.
  TITLE     A kinase-deficient splice variant of the human JAK3 is expressed in
            hematopoietic and epithelial cancer cells
  JOURNAL   J Biol Chem 270 (42), 25028-25036 (1995)
   PUBMED   7559633
REFERENCE   9  (bases 1 to 5386)
  AUTHORS   Rolling C, Treton D, Beckmann P, Galanaud P and Richard Y.
  TITLE     JAK3 associates with the human interleukin 4 receptor and is
            tyrosine phosphorylated following receptor triggering
  JOURNAL   Oncogene 10 (9), 1757-1761 (1995)
   PUBMED   7538655
REFERENCE   10  (bases 1 to 5386)
  AUTHORS   Musso T, Johnston JA, Linnekin D, Varesio L, Rowe TK, O'Shea JJ and
            McVicar DW.
  TITLE     Regulation of JAK3 expression in human monocytes: phosphorylation in
            response to interleukins 2, 4, and 7
  JOURNAL   J Exp Med 181 (4), 1425-1431 (1995)
   PUBMED   7535338
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3434126.1,
            SRR14038194.3063212.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000458235.7/ ENSP00000391676.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA405504.1, U31601.1, U09607.1,
            AC007201.1 and BF512748.1.
            On Dec 27, 2019 this sequence version replaced NM_000215.3.
            Summary: The protein encoded by this gene is a member of the Janus
            kinase (JAK) family of tyrosine kinases involved in cytokine
            receptor-mediated intracellular signal transduction. It is
            predominantly expressed in immune cells and transduces a signal in
            response to its activation via tyrosine phosphorylation by
            interleukin receptors. Mutations in this gene are associated with
            autosomal SCID (severe combined immunodeficiency disease).
            [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5386
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..5386
                     /gene="JAK3"
                     /gene_synonym="JAK-3; JAK3_HUMAN; JAKL; L-JAK; LJAK"
                     /note="Janus kinase 3"
                     /db_xref="GeneID:3718"
                     /db_xref="HGNC:HGNC:6193"
                     /db_xref="MIM:600173"
     CDS             51..3425
                     /gene="JAK3"
                     /gene_synonym="JAK-3; JAK3_HUMAN; JAKL; L-JAK; LJAK"
                     /EC_number="2.7.10.2"
                     /note="Janus kinase 3 (a protein tyrosine kinase,
                     leukocyte); leukocyte Janus kinase"
                     /codon_start=1
                     /product="tyrosine-protein kinase JAK3"
                     /protein_id="NP_000206.2"
                     /db_xref="CCDS:CCDS12366.1"
                     /db_xref="GeneID:3718"
                     /db_xref="HGNC:HGNC:6193"
                     /db_xref="MIM:600173"
                     /translation="MAPPSEETPLIPQRSCSLLSTEAGALHVLLPARGPGPPQRLSFSF
                     GDHLAEDLCVQAAKASGILPVYHSLFALATEDLSCWFPPSHIFSVEDASTQVLLYRIRF
                     YFPNWFGLEKCHRFGLRKDLASAILDLPVLEHLFAQHRSDLVSGRLPVGLSLKEQGECL
                     SLAVLDLARMAREQAQRPGELLKTVSYKACLPPSLRDLIQGLSFVTRRRIRRTVRRALR
                     RVAACQADRHSLMAKYIMDLERLDPAGAAETFHVGLPGALGGHDGLGLLRVAGDGGIAW
                     TQGEQEVLQPFCDFPEIVDISIKQAPRVGPAGEHRLVTVTRTDNQILEAEFPGLPEALS
                     FVALVDGYFRLTTDSQHFFCKEVAPPRLLEEVAEQCHGPITLDFAINKLKTGGSRPGSY
                     VLRRSPQDFDSFLLTVCVQNPLGPDYKGCLIRRSPTGTFLLVGLSRPHSSLRELLATCW
                     DGGLHVDGVAVTLTSCCIPRPKEKSNLIVVQRGHSPPTSSLVQPQSQYQLSQMTFHKIP
                     ADSLEWHENLGHGSFTKIYRGCRHEVVDGEARKTEVLLKVMDAKHKNCMESFLEAASLM
                     SQVSYRHLVLLHGVCMAGDSTMVQEFVHLGAIDMYLRKRGHLVPASWKLQVVKQLAYAL
                     NYLEDKGLPHGNVSARKVLLAREGADGSPPFIKLSDPGVSPAVLSLEMLTDRIPWVAPE
                     CLREAQTLSLEADKWGFGATVWEVFSGVTMPISALDPAKKLQFYEDRQQLPAPKWTELA
                     LLIQQCMAYEPVQRPSFRAVIRDLNSLISSDYELLSDPTPGALAPRDGLWNGAQLYACQ
                     DPTIFEERHLKYISQLGKGNFGSVELCRYDPLGDNTGALVAVKQLQHSGPDQQRDFQRE
                     IQILKALHSDFIVKYRGVSYGPGRQSLRLVMEYLPSGCLRDFLQRHRARLDASRLLLYS
                     SQICKGMEYLGSRRCVHRDLAARNILVESEAHVKIADFGLAKLLPLDKDYYVVREPGQS
                     PIFWYAPESLSDNIFSRQSDVWSFGVVLYELFTYCDKSCSPSAEFLRMMGCERDVPALC
                     RLLELLEEGQRLPAPPACPAEVHELMKLCWAPSPQDRPSFSALGPQLDMLWSGSRGCET
                     HAFTAHPEGKHHSLSFS"
     misc_feature    51..719
                     /gene="JAK3"
                     /gene_synonym="JAK-3; JAK3_HUMAN; JAKL; L-JAK; LJAK"
                     /note="propagated from UniProtKB/Swiss-Prot (P52333.2);
                     Region: Interaction with cytokine/interferon/growth hormone
                     receptors. /evidence=ECO:0000250"
     misc_feature    99..101
                     /gene="JAK3"
                     /gene_synonym="JAK-3; JAK3_HUMAN; JAKL; L-JAK; LJAK"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q62137; propagated from
                     UniProtKB/Swiss-Prot (P52333.2); phosphorylation site"
     misc_feature    2403..2405
                     /gene="JAK3"
                     /gene_synonym="JAK-3; JAK3_HUMAN; JAKL; L-JAK; LJAK"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:15121872; propagated from
                     UniProtKB/Swiss-Prot (P52333.2); phosphorylation site"
     misc_feature    2760..2762
                     /gene="JAK3"
                     /gene_synonym="JAK-3; JAK3_HUMAN; JAKL; L-JAK; LJAK"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:18250158; propagated from
                     UniProtKB/Swiss-Prot (P52333.2); phosphorylation site"
     misc_feature    2865..2867
                     /gene="JAK3"
                     /gene_synonym="JAK-3; JAK3_HUMAN; JAKL; L-JAK; LJAK"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:18250158; propagated from
                     UniProtKB/Swiss-Prot (P52333.2); phosphorylation site"
     misc_feature    2988..2990
                     /gene="JAK3"
                     /gene_synonym="JAK-3; JAK3_HUMAN; JAKL; L-JAK; LJAK"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:15831699; propagated from
                     UniProtKB/Swiss-Prot (P52333.2); phosphorylation site"
     misc_feature    2991..2993
                     /gene="JAK3"
                     /gene_synonym="JAK-3; JAK3_HUMAN; JAKL; L-JAK; LJAK"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:15831699; propagated from
                     UniProtKB/Swiss-Prot (P52333.2); phosphorylation site"
     regulatory      5365..5370
                     /regulatory_class="polyA_signal_sequence"
                     /gene="JAK3"
                     /gene_synonym="JAK-3; JAK3_HUMAN; JAKL; L-JAK; LJAK"
                     /note="hexamer: AATAAA"
     polyA_site      5386
                     /gene="JAK3"
                     /gene_synonym="JAK-3; JAK3_HUMAN; JAKL; L-JAK; LJAK"
                     /note="major polyA site"
ORIGIN
        1 gcccgccctt cgaaagtcca gggtccctgc ccgctaggca agttgcactc atggcacctc
       61 caagtgaaga gacgcccctg atccctcagc gttcatgcag cctcttgtcc acggaggctg
      121 gtgccctgca tgtgctgctg cccgctcggg gccccgggcc cccccagcgc ctatctttct
      181 cctttgggga ccacttggct gaggacctgt gcgtgcaggc tgccaaggcc agcggcatcc
      241 tgcctgtgta ccactccctc tttgctctgg ccacggagga cctgtcctgc tggttccccc
      301 cgagccacat cttctccgtg gaggatgcca gcacccaagt cctgctgtac aggattcgct
      361 tttacttccc caattggttt gggctggaga agtgccaccg cttcgggcta cgcaaggatt
      421 tggccagtgc tatccttgac ctgccagtcc tggagcacct ctttgcccag caccgcagtg
      481 acctggtgag tgggcgcctc cccgtgggcc tcagtctcaa ggagcagggt gagtgtctca
      541 gcctggccgt gttggacctg gcccggatgg cgcgagagca ggcccagcgg ccgggagagc
      601 tgctgaagac tgtcagctac aaggcctgcc tacccccaag cctgcgcgac ctgatccagg
      661 gcctgagctt cgtgacgcgg aggcgtattc ggaggacggt gcgcagagcc ctgcgccgcg
      721 tggccgcctg ccaggcagac cggcactcgc tcatggccaa gtacatcatg gacctggagc
      781 ggctggatcc agccggggcc gccgagacct tccacgtggg cctccctggg gcccttggtg
      841 gccacgacgg gctggggctg ctccgcgtgg ctggtgacgg cggcatcgcc tggacccagg
      901 gagaacagga ggtcctccag cccttctgcg actttccaga aatcgtagac attagcatca
      961 agcaggcccc gcgcgttggc ccggccggag agcaccgcct ggtcactgtt accaggacag
     1021 acaaccagat tttagaggcc gagttcccag ggctgcccga ggctctgtcg ttcgtggcgc
     1081 tcgtggacgg ctacttccgg ctgaccacgg actcccagca cttcttctgc aaggaggtgg
     1141 caccgccgag gctgctggag gaagtggccg agcagtgcca cggccccatc actctggact
     1201 ttgccatcaa caagctcaag actgggggct cacgtcctgg ctcctatgtt ctccgccgca
     1261 gcccccagga ctttgacagc ttcctcctca ctgtctgtgt ccagaacccc cttggtcctg
     1321 attataaggg ctgcctcatc cggcgcagcc ccacaggaac cttccttctg gttggcctca
     1381 gccgacccca cagcagtctt cgagagctcc tggcaacctg ctgggatggg gggctgcacg
     1441 tagatggggt ggcagtgacc ctcacttcct gctgtatccc cagacccaaa gaaaagtcca
     1501 acctgatcgt ggtccagaga ggtcacagcc cacccacatc atccttggtt cagccccaat
     1561 cccaatacca gctgagtcag atgacatttc acaagatccc tgctgacagc ctggagtggc
     1621 atgagaacct gggccatggg tccttcacca agatttaccg gggctgtcgc catgaggtgg
     1681 tggatgggga ggcccgaaag acagaggtgc tgctgaaggt catggatgcc aagcacaaga
     1741 actgcatgga gtcattcctg gaagcagcga gcttgatgag ccaagtgtcg taccggcatc
     1801 tcgtgctgct ccacggcgtg tgcatggctg gagacagcac catggtgcag gaatttgtac
     1861 acctgggggc catagacatg tatctgcgaa aacgtggcca cctggtgcca gccagctgga
     1921 agctgcaggt ggtcaaacag ctggcctacg ccctcaacta tctggaggac aaaggcctgc
     1981 cccatggcaa tgtctctgcc cggaaggtgc tcctggctcg ggagggggct gatgggagcc
     2041 cgcccttcat caagctgagt gaccctgggg tcagccccgc tgtgttaagc ctggagatgc
     2101 tcaccgacag gatcccctgg gtggcccccg agtgtctccg ggaggcgcag acacttagct
     2161 tggaagctga caagtggggc ttcggcgcca cggtctggga agtgtttagt ggcgtcacca
     2221 tgcccatcag tgccctggat cctgctaaga aactccaatt ttatgaggac cggcagcagc
     2281 tgccggcccc caagtggaca gagctggccc tgctgattca acagtgcatg gcctatgagc
     2341 cggtccagag gccctccttc cgagccgtca ttcgtgacct caatagcctc atctcttcag
     2401 actatgagct cctctcagac cccacacctg gtgccctggc acctcgtgat gggctgtgga
     2461 atggtgccca gctctatgcc tgccaagacc ccacgatctt cgaggagaga cacctcaagt
     2521 acatctcaca gctgggcaag ggcaactttg gcagcgtgga gctgtgccgc tatgacccgc
     2581 taggcgacaa tacaggtgcc ctggtggccg tgaaacagct gcagcacagc gggccagacc
     2641 agcagaggga ctttcagcgg gagattcaga tcctcaaagc actgcacagt gatttcattg
     2701 tcaagtatcg tggtgtcagc tatggcccgg gccgccagag cctgcggctg gtcatggagt
     2761 acctgcccag cggctgcttg cgcgacttcc tgcagcggca ccgcgcgcgc ctcgatgcca
     2821 gccgcctcct tctctattcc tcgcagatct gcaagggcat ggagtacctg ggctcccgcc
     2881 gctgcgtgca ccgcgacctg gccgcccgaa acatcctcgt ggagagcgag gcacacgtca
     2941 agatcgctga cttcggccta gctaagctgc tgccgcttga caaagactac tacgtggtcc
     3001 gcgagccagg ccagagcccc attttctggt atgcccccga atccctctcg gacaacatct
     3061 tctctcgcca gtcagacgtc tggagcttcg gggtcgtcct gtacgagctc ttcacctact
     3121 gcgacaaaag ctgcagcccc tcggccgagt tcctgcggat gatgggatgt gagcgggatg
     3181 tccccgccct ctgccgcctc ttggaactgc tggaggaggg ccagaggctg ccggcgcctc
     3241 ctgcctgccc tgctgaggtt cacgagctca tgaagctgtg ctgggcccct agcccacagg
     3301 accggccatc attcagcgcc ctgggccccc agctggacat gctgtggagc ggaagccggg
     3361 ggtgtgagac tcatgccttc actgctcacc cagagggcaa acaccactcc ctgtcctttt
     3421 catagctcct gcccgcagac ctctggatta ggtctctgtt gactggctgt gtgaccttag
     3481 gcccggagct gcccctctct gggcctcaga ggccttatga gggtcctcta cttcaggaac
     3541 acccccatga cattgcattt gggggggctc ccgtggcctg tagaatagcc tgtggccttt
     3601 gcaatttgtt aaggttcaag acagatgggc atatgtgtca gtggggctct ctgagtcctg
     3661 gcccaaagaa gcaaggaacc aaatttaaga ctctcgcatc ttcccaaccc cttaagccct
     3721 ggccccctga gtttcctttt ctgtctctct ctttttattt tttttatttt tatttttatt
     3781 tttgagacag agcctcgctc tgttacccag ggtggagtgc agtggtgcga tctcggctca
     3841 gtgcaacctc tgcttcccag gttcaagcga ttctcctgcc tcagcctccc gagtagctgg
     3901 gattacaggt gtgcaccacc acacccggct aatttttttt atttttaata gagatgaggt
     3961 ttcaccatga tggccaggct gatctcgaac tcctaacctc aagtgatcct cccacctcag
     4021 cctcccaaag tgttggaata ataggcatga gccactgcac ccaggctttt ttttttttaa
     4081 atttattatt attattttta agagacagga tcttgctacg ttgcccaggc tggtcttgaa
     4141 ctcctgggct acagtgatcc tcctgcctta tcctcctaaa tagctgggac tacagcacct
     4201 agttttgagt ttcctgtctt atttccaatg gggacattca tgtagctttt tttttttttt
     4261 tttttttgag acggagtctc gctctgtcgc ccaggctgga gtacagtggc gcaatctagg
     4321 ctcactgcaa gctccgcctc ctgggttcac accattctct cgcctcagcc tcccaagtag
     4381 ctgggactac aggcgcccgc caccacaccc ggctaatttt ttgtattttt agtagagacg
     4441 gggtttcacc ttgttagcca ggatggtttc catctcctga cctcgtgatc tgcccgtctc
     4501 ggcctcccaa agtgctggga ttacaggcat gagccactgc gcccggccct catgtagctt
     4561 taaatgtatg atctgacttc tgctccccga tctctgtttc tctggaggaa gccaaggaca
     4621 agagcagttg ctgtggctgg gactctgcct tttaggggag cccgtgtatc tctttgggat
     4681 cctgaaaggg ggcaggaaag gctggggtcc cagtccaccc taatggtatc tgagtgtcct
     4741 agggcttcag ttttcccacc tgtccaatgg gaccctttct gtcctcaccc tacaaggggc
     4801 acaaagggat gacaccaaac ctggcaggaa cttttcacgc aatcaaggga aggaaaggca
     4861 ttcctggcag agggaacagc atgccaagcg tgagaaggct cagagtaagg aggttaagag
     4921 cccaagtatt ggagcctaca gttttgcccc ttccatgcag tgtgacagtg ggcaagttcc
     4981 tttccctctc tgggtctcag ttctgtcccc tgcaaaatgg tcagagctta ccccttggct
     5041 gtgcagggtc aactttctga ctggtgagag ggattctcat gcaggttaag cttctgctgc
     5101 tcctcctcac ctgcaaagct tttctgccac ttttgcctcc ttggaaaact cttatccatc
     5161 tctcaaaact ccagctacca catccttgca gccttccctc atataccccc actactactg
     5221 tagccctgtc cttccctcca gccccactct ggccctgggg ctggggaagt gtctgtgtcc
     5281 agctgtctcc cctgacctca gggttccttg ggggctgggc tgaggcctca gtacagaggg
     5341 ggctctggaa atgtttgttg actgaataaa ggaattcagt ggaaaa
//
LOCUS       NM_000216               6265 bp    mRNA    linear   PRI 15-MAR-2023
DEFINITION  Homo sapiens anosmin 1 (ANOS1), mRNA.
ACCESSION   NM_000216
VERSION     NM_000216.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6265)
  AUTHORS   Chu G, Li P, Zhao Q, He R and Zhao Y.
  TITLE     Mutation spectrum of Kallmann syndrome: identification of five novel
            mutations across ANOS1 and FGFR1
  JOURNAL   Reprod Biol Endocrinol 21 (1), 23 (2023)
   PUBMED   36859276
  REMARK    GeneRIF: Mutation spectrum of Kallmann syndrome: identification of
            five novel mutations across ANOS1 and FGFR1. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 6265)
  AUTHORS   Zeng W, Li J, Wang X, Jiang F and Men M.
  TITLE     ANOS1 variants in a large cohort of Chinese patients with congenital
            hypogonadotropic hypogonadism
  JOURNAL   Zhong Nan Da Xue Xue Bao Yi Xue Ban 47 (7), 847-857 (2022)
   PUBMED   36039580
  REMARK    GeneRIF: ANOS1 variants in a large cohort of Chinese patients with
            congenital hypogonadotropic hypogonadism.', trans 'ANOS1.
REFERENCE   3  (bases 1 to 6265)
  AUTHORS   Louden ED, Poch A, Kim HG, Ben-Mahmoud A, Kim SH and Layman LC.
  TITLE     Genetics of hypogonadotropic Hypogonadism-Human and mouse genes,
            inheritance, oligogenicity, and genetic counseling
  JOURNAL   Mol Cell Endocrinol 534, 111334 (2021)
   PUBMED   34062169
  REMARK    GeneRIF: Genetics of hypogonadotropic Hypogonadism-Human and mouse
            genes, inheritance, oligogenicity, and genetic counseling. Review
            article
REFERENCE   4  (bases 1 to 6265)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 6265)
  AUTHORS   Jiang X, Li D, Gao Y, Zhang X, Wang X, Yang Y and Shen Y.
  TITLE     A novel splice site variant in ANOS1 gene leads to Kallmann syndrome
            in three siblings
  JOURNAL   Gene 726, 144177 (2020)
   PUBMED   31669640
  REMARK    GeneRIF: The deleterious effect of this mutation on the
            transcriptional level of ANOS1 gene.
REFERENCE   6  (bases 1 to 6265)
  AUTHORS   Balasubramanian,R. and Crowley,W.F. Jr.
  TITLE     Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301509
REFERENCE   7  (bases 1 to 6265)
  AUTHORS   del Castillo I, Cohen-Salmon M, Blanchard S, Lutfalla G and Petit C.
  TITLE     Structure of the X-linked Kallmann syndrome gene and its homologous
            pseudogene on the Y chromosome
  JOURNAL   Nat Genet 2 (4), 305-310 (1992)
   PUBMED   1303284
REFERENCE   8  (bases 1 to 6265)
  AUTHORS   Guioli S, Incerti B, Zanaria E, Bardoni B, Franco B, Taylor K,
            Ballabio A and Camerino G.
  TITLE     Kallmann syndrome due to a translocation resulting in an X/Y fusion
            gene
  JOURNAL   Nat Genet 1 (5), 337-340 (1992)
   PUBMED   1302031
REFERENCE   9  (bases 1 to 6265)
  AUTHORS   Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S,
            Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D et al.
  TITLE     The candidate gene for the X-linked Kallmann syndrome encodes a
            protein related to adhesion molecules
  JOURNAL   Cell 67 (2), 423-435 (1991)
   PUBMED   1913827
REFERENCE   10  (bases 1 to 6265)
  AUTHORS   Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R,
            Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown CJ,
            Willard HF, Lawrence C, Graziella Persico M, Camerino G and Ballabio
            A.
  TITLE     A gene deleted in Kallmann's syndrome shares homology with neural
            cell adhesion and axonal path-finding molecules
  JOURNAL   Nature 353 (6344), 529-536 (1991)
   PUBMED   1922361
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M97252.1, AH003768.2 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000262648.8/ ENSP00000262648.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC137426.1, CD642906.1,
            CN417843.1, DA809233.1, DB214183.1, AC006062.5, M97252.1 and
            AA678961.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000216.3.
            Summary: Mutations in this gene cause the X-linked Kallmann
            syndrome. The encoded protein is similar in sequence to proteins
            known to function in neural cell adhesion and axonal migration. In
            addition, this cell surface protein is N-glycosylated and may have
            anti-protease activity. [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6265
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.31"
     gene            1..6265
                     /gene="ANOS1"
                     /gene_synonym="ADMLX; HH1; HHA; KAL; KAL1; KALIG-1; KMS;
                     WFDC19"
                     /note="anosmin 1"
                     /db_xref="GeneID:3730"
                     /db_xref="HGNC:HGNC:6211"
                     /db_xref="MIM:300836"
     CDS             102..2144
                     /gene="ANOS1"
                     /gene_synonym="ADMLX; HH1; HHA; KAL; KAL1; KALIG-1; KMS;
                     WFDC19"
                     /EC_number="3.4.21.4"
                     /note="Kallmann syndrome-1 sequence (anosmin-1); adhesion
                     molecule-like X-linked; Kallmann syndrome interval gene 1;
                     kallmann syndrome protein; WAP four-disulfide core domain
                     19"
                     /codon_start=1
                     /product="anosmin-1 precursor"
                     /protein_id="NP_000207.2"
                     /db_xref="CCDS:CCDS14130.1"
                     /db_xref="GeneID:3730"
                     /db_xref="HGNC:HGNC:6211"
                     /db_xref="MIM:300836"
                     /translation="MVPGVPGAVLTLCLWLAASSGCLAAGPGAAAARRLDESLSAGSVQ
                     RARCASRCLSLQITRISAFFQHFQNNGSLVWCQNHKQCSKCLEPCKESGDLRKHQCQSF
                     CEPLFPKKSYECLTSCEFLKYILLVKQGDCPAPEKASGFAAACVESCEVDNECSGVKKC
                     CSNGCGHTCQVPKTLYKGVPLKPRKELRFTELQSGQLEVKWSSKFNISIEPVIYVVQRR
                     WNYGIHPSEDDATHWQTVAQTTDERVQLTDIRPSRWYQFRVAAVNVHGTRGFTAPSKHF
                     RSSKDPSAPPAPANLRLANSTVNSDGSVTVTIVWDLPEEPDIPVHHYKVFWSWMVSSKS
                     LVPTKKKRRKTTDGFQNSVILEKLQPDCDYVVELQAITYWGQTRLKSAKVSLHFTSTHA
                     TNNKEQLVKTRKGGIQTQLPFQRRRPTRPLEVGAPFYQDGQLQVKVYWKKTEDPTVNRY
                     HVRWFPEACAHNRTTGSEASSGMTHENYIILQDLSFSCKYKVTVQPIRPKSHSKAEAVF
                     FTTPPCSALKGKSHKPVGCLGEAGHVLSKVLAKPENLSASFIVQDVNITGHFSWKMAKA
                     NLYQPMTGFQVTWAEVTTESRQNSLPNSIISQSQILPSDHYVLTVPNLRPSTLYRLEVQ
                     VLTPGGEGPATIKTFRTPELPPSSAHRSHLKHRHPHHYKPSPERY"
     sig_peptide     102..173
                     /gene="ANOS1"
                     /gene_synonym="ADMLX; HH1; HHA; KAL; KAL1; KALIG-1; KMS;
                     WFDC19"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    312..314
                     /gene="ANOS1"
                     /gene_synonym="ADMLX; HH1; HHA; KAL; KAL1; KALIG-1; KMS;
                     WFDC19"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23352.3); glycosylation site"
     misc_feature    726..728
                     /gene="ANOS1"
                     /gene_synonym="ADMLX; HH1; HHA; KAL; KAL1; KALIG-1; KMS;
                     WFDC19"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23352.3); glycosylation site"
     misc_feature    999..1001
                     /gene="ANOS1"
                     /gene_synonym="ADMLX; HH1; HHA; KAL; KAL1; KALIG-1; KMS;
                     WFDC19"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23352.3); glycosylation site"
     misc_feature    1509..1511
                     /gene="ANOS1"
                     /gene_synonym="ADMLX; HH1; HHA; KAL; KAL1; KALIG-1; KMS;
                     WFDC19"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23352.3); glycosylation site"
     misc_feature    1758..1760
                     /gene="ANOS1"
                     /gene_synonym="ADMLX; HH1; HHA; KAL; KAL1; KALIG-1; KMS;
                     WFDC19"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23352.3); glycosylation site"
     misc_feature    1791..1793
                     /gene="ANOS1"
                     /gene_synonym="ADMLX; HH1; HHA; KAL; KAL1; KALIG-1; KMS;
                     WFDC19"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23352.3); glycosylation site"
     misc_feature    2025..2141
                     /gene="ANOS1"
                     /gene_synonym="ADMLX; HH1; HHA; KAL; KAL1; KALIG-1; KMS;
                     WFDC19"
                     /note="propagated from UniProtKB/Swiss-Prot (P23352.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      6244..6249
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANOS1"
                     /gene_synonym="ADMLX; HH1; HHA; KAL; KAL1; KALIG-1; KMS;
                     WFDC19"
                     /note="hexamer: AATAAA"
     polyA_site      6265
                     /gene="ANOS1"
                     /gene_synonym="ADMLX; HH1; HHA; KAL; KAL1; KALIG-1; KMS;
                     WFDC19"
                     /note="major polyA site"
ORIGIN
        1 agtcgcggcg tctgcctggt cctcagcagt gcagccccgg cgcggagcag ggagcctcgg
       61 cccgcgcccg gcgccctcgc cctcgccctc gacccgcagc catggtgccc ggggtgcccg
      121 gcgcggtcct gaccctctgc ctctggctgg cggcctccag cggctgcctg gcggccggcc
      181 ccggcgcggc tgctgcgcgg cggctggacg agtcgctgtc tgccgggagc gtccagcgcg
      241 ctcgctgcgc ctccaggtgc ctgagcctgc agatcactcg catctccgcc ttcttccagc
      301 acttccagaa caatggttcc ctggtttggt gccagaatca caagcaatgt tctaagtgcc
      361 tggagccctg caaggaatca ggggacctga ggaaacacca gtgccaaagc ttttgtgagc
      421 ctctcttccc caagaagagc tacgaatgct tgaccagctg tgagttcctc aaatacatcc
      481 tgttggtgaa gcagggggac tgtccggctc ctgagaaagc cagtggattt gcggccgcct
      541 gtgttgaaag ctgcgaagtt gacaatgagt gctctggggt gaagaaatgt tgttcgaatg
      601 ggtgtggaca cacctgtcaa gtacccaaga ctctgtacaa aggtgtcccc ctgaagccca
      661 gaaaagagtt acgatttaca gaactgcagt ctggacagct ggaggttaag tggtcctcga
      721 aattcaatat ttctattgag cctgtgatct atgtggtaca aagaagatgg aattatggaa
      781 tccatcctag cgaagatgac gccactcact ggcagacagt ggcccagacc acagacgagc
      841 gagttcaact gactgacata agacccagcc gatggtacca gtttcgagtg gctgctgtga
      901 atgtgcatgg aactcgaggc ttcactgccc ccagcaaaca cttccgttct tccaaagatc
      961 catctgcccc accagcaccg gctaacctcc ggctggccaa ctccaccgtc aacagtgatg
     1021 ggagtgtgac cgtcactata gtttgggatc tccccgagga gccggacatc cctgtgcatc
     1081 attacaaggt cttttggagc tggatggtca gcagtaagtc tcttgtccca acaaagaaga
     1141 agcggagaaa gactacggat gggtttcaaa attctgtgat cctggagaaa ctccagccag
     1201 actgtgacta tgttgtggaa ttgcaagcca taacgtactg gggacagaca cggctgaaga
     1261 gtgcaaaggt gtcccttcac ttcacatcga cacatgcaac caacaacaaa gaacagcttg
     1321 tgaaaactag aaaaggtgga attcaaacac aactcccttt tcaaagacga cgacccactc
     1381 gcccgctgga agtcggagct cccttctatc aggatggcca actgcaagtt aaagtctact
     1441 ggaagaagac agaagatccc actgtcaacc gatatcatgt gcggtggttt cctgaagcgt
     1501 gtgcccacaa cagaacaacc ggatcagagg catcatctgg catgacccac gaaaattaca
     1561 taattcttca agatctgtca ttttcctgca agtataaggt gactgtccaa ccaatacggc
     1621 caaaaagtca ctccaaggca gaagctgttt tcttcactac tccaccatgc tctgctctta
     1681 aggggaagag ccacaagcct gttggctgcc tgggcgaagc aggtcatgtt ctttctaagg
     1741 tgctagctaa gcctgagaac ctttctgctt cattcatcgt ccaggatgtg aacatcaccg
     1801 gtcacttttc ttggaagatg gccaaggcca atctctatca gcccatgact gggtttcaag
     1861 tgacttgggc tgaggtcact acggaaagca gacagaacag cctacccaac agcattattt
     1921 cacagtccca gatcctgcct tccgatcatt atgtcctaac agtgcccaat ctgagaccat
     1981 ctactcttta ccgactggaa gtgcaagtgc tgaccccagg aggggagggg ccggccacca
     2041 tcaagacgtt ccggacgccg gagctcccac cctcttcagc acacagatct catcttaagc
     2101 atcgtcatcc acatcattac aagccttctc cagaaagata ctaaactgtt caaaaagatt
     2161 ttgtgaaatt gcacagatgt gtaagcttgt tgaacttcgg ccacgagaca tgcacacttc
     2221 cagaggcagt gggaactgct cagaggcccg gactctccta tgtgacttta gtgcaggaag
     2281 aacttctgtc aatcatggac gcatctggag acaagtgaga aacagtagat tggtgaagac
     2341 agacaccagt tccctacaag catggagaaa atgaagaata ggcctgttta atgctaaatt
     2401 ttgttttcat gtatggtgtc gctcatttct attgaattac aacagaactc agttttccct
     2461 gaatttggag caccaaactc cgccccaaaa aggagagtaa caaatacaca attcacacat
     2521 aacactaagc gtaaatctaa tcaataaaat atatttttga ctaaattatt gattcgatat
     2581 gaaaaatcaa ctaagattac acagctttgt ttttttgaat ctttcctaag atcattttta
     2641 tcctaggtga tttttaaatg aaaatgtgta atctaaaata taccagcgaa tttaaatcta
     2701 aaaatgctcc tactttaagt accttgtgct gctctttatg caaaggtaaa tcaaagttcc
     2761 ctctataaat tatgatttac aaaagacacc caagccagag gaactcaatg aaataagctg
     2821 ctaatcagat tttaccttgg agaaatgaaa attatttctt ggggatgcct tttaatattt
     2881 gatcctatta tgtgagagat tttcctgata tgttatctta tttatatttt cccttatttt
     2941 cctcaatgca gataatagct tttggtgcac ttttgtttca ccatctgaaa attcacaaaa
     3001 cttcttgctt caaatgaaaa aatcccaact attgagcatg tttaaatctt tgcagagatt
     3061 tgccttttct taatcaaaga aaggtctttg tgtgctagaa tattattggt aatgttttaa
     3121 aaattccttt gattgataga gaaggacagt tatttgcatt taattcaccc atatgctttc
     3181 aaatctagta tatcttactt tttggaaatg ttttatgcta caaattagtg ccttgtagca
     3241 tgaacttaag tcaaaacgtg ttatcaatat agagtgttgc agtgtatatt gtaacaacct
     3301 aaaacgcaga gaagtttaat ttaatactgt tttttttctt gaaggaatac tcacatacat
     3361 ggtttgaaat gtgcatagat atgcatgtct atataattat aaatgcatgt gtatatatat
     3421 gcaaatatat gtacatatac atgtatatac acacagacac atgcatatac atgaatatac
     3481 cttgagcatg aatccctgga gaaatcgttt tcgtagctca ccaatggtga gtaaagatac
     3541 agctctttta aaggtcataa ggataatata ttttccccat caatgctgat tctgagaaaa
     3601 gagcaattta tcaaaattaa acactgtaaa agaaaggtgt ccatatgtct ttacctacct
     3661 aagtaaaaca ggaagaaaat cagtaacatt atccttaggt tttgacaatg gtacttgctt
     3721 cttgttgttt tattgtttcc tgaattcatg cagatgcctg gccattcctg ggaagagtgg
     3781 ataactcaga agtcactgta ctccacagag cctcactgca gtgtctaaag gtagatgcaa
     3841 attaaaatgc agggaaaata acttttctga tgttgatgca tgtctttggg aaacacattt
     3901 ataaacatgg atacctgata atagatattg aaacccattt cctgtgtgtt aaaatattta
     3961 aaaagtggat attccaggaa tgttttgcag ctttgtacaa gtaacataaa ttggacacct
     4021 cagaatgaaa gttcatgttg gttctgaatg gttcactgca gctcctgtca caagctggga
     4081 tggatttatc acattgagtt atgaaattac ctggttctaa gaatttttga gtggcaaaaa
     4141 tagaaaacaa tcttcatttg aaaacatccc taagcttgaa taaatggata ccatagatag
     4201 cttctctttt ttattctggt gtcattacca gcatctgaat ttcaagttct taaaatttca
     4261 aaaattaaaa tttttcatta ttagctatcc atttatcttt tacatgaact tgtcatgaac
     4321 aaattcaaat gtttatgcca gcaaattttt gtactgttgc atagttaaaa atgctgggag
     4381 tctctgcata gatacaaaat attattaaat tattacataa atttaatttt ataaaattta
     4441 atcatgcttc ttttgtctgg gtaatagaca ttggacagat atttttagtt cagatggtga
     4501 ttctgaagct tacatctccc ttaaaaaaat ctaaagcagc tcttatgggc ttctaatttt
     4561 aatataaata aataatttaa attttattgg tgttattgga agaaaaatgc tattaatggg
     4621 ctaataaaaa acatgtgttt ctcttatgga ttttaataag ctccagtatt attcaaatga
     4681 tcaaaaatat agttataatt ttttgaattt taaaaatgtg attgctctaa taaagaataa
     4741 aatctatgct ttttaacaaa catagttttg gtgcctaatt ctgtaatatg ttttattgaa
     4801 attagattca tttctctaat gtgagaaaaa tatatccagt aatagtattg actgtttaaa
     4861 aaattgagct catcaaaaat attgtcatca aatacaggtg gttaatctga catacattgc
     4921 agttacatgc attattttta tttacaacat ttgctcctta atgatgaatt tatctgtgtt
     4981 accctgtttt tctacctgga actccataga atgatgtttg caaaccaaca tgtgctcttt
     5041 tcagtcattc actgttttaa tatgacatgg tagagaagat aaggtttatg gcaggtaatt
     5101 ttttgtaatg tgtattaaac gaagttcaaa gattagaaat acatctgtgt cctgaaaacc
     5161 ttagatacat agccgactgt atacagaggt tcatctcaac ctcaacacta ttgacttttg
     5221 gggctggata gttctctgtt gtgggggttt gtcttgtgca ctgtaggttt ttagtagcat
     5281 ccacactttc tcctcaccag atgccagttg caccctcccc caagttgaga caaccaaaaa
     5341 tgtctccaga tattgccagc taccccttga gggatggtac ctctggttga gaaccattgc
     5401 tagagaatga tctttactga atttgccctt tataagaaac ccagtgaatt tctagagcaa
     5461 gtcccaaaaa ctaagggaca gctaagaagt tattatggtt gacttcaaag gcctaaactg
     5521 tgttttttat gtccactaaa caacttgatt aaaagacgga attttgactc gtgtctgtat
     5581 catacaagta caaatactaa ttttgcccta tgtatccgta aatgtcattt gtgattttga
     5641 cttatttatt taatgccctt tcttatgccg tgggttttca agtttactca tttctatggt
     5701 tgcaaataac tctaaaactt attatataaa ctttcatatt ataggcagaa cacaatggct
     5761 aaatatctgt tgcatgtact ttaaagttta ttataaaata taaacagata tataaagatg
     5821 ttgactctta cctgtgattt tgcatggtca gactcggtgt caggtacgga gaggattctc
     5881 atgactgtct tacctctact gaatattcta gtgagttata tgatttacgg agtgattaac
     5941 agaggtctat ataaagttac ttttcccctt tacttaatta tattgtagtg tgcagataac
     6001 aaaactgcta ccttctcatc caagtggtct gtagaattca tgtcccttac agtggtcatt
     6061 taaagtcaat atttatttat gtatgtaata aaaaaagttg gatttttgtg tatgtctgtc
     6121 acattattta gagagaagta atcttgtaaa aatgttttgt aaaaaacaaa aaagtattgt
     6181 aaatagtctt gatattctgt gactcattat tttcatgtta gagtttgtac atactggttc
     6241 aataataaag tatccttaaa ccaga
//
LOCUS       NM_000217               7985 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily A member 1
            (KCNA1), mRNA.
ACCESSION   NM_000217
VERSION     NM_000217.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7985)
  AUTHORS   Tian Y, Korn P, Tripathi P, Komnig D, Wiemuth D, Nikouee A, Classen
            A, Bolm C, Falkenburger BH, Luscher B and Grunder S.
  TITLE     The mono-ADP-ribosyltransferase ARTD10 regulates the voltage-gated
            K+ channel Kv1.1 through protein kinase C delta
  JOURNAL   BMC Biol 18 (1), 143 (2020)
   PUBMED   33059680
  REMARK    GeneRIF: The mono-ADP-ribosyltransferase ARTD10 regulates the
            voltage-gated K(+) channel Kv1.1 through protein kinase C delta.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 7985)
  AUTHORS   Zhao J, Petitjean D, Haddad GA, Batulan Z and Blunck R.
  TITLE     A Common Kinetic Property of Mutations Linked to Episodic Ataxia
            Type 1 Studied in the Shaker Kv Channel
  JOURNAL   Int J Mol Sci 21 (20), 7602 (2020)
   PUBMED   33066705
  REMARK    GeneRIF: A Common Kinetic Property of Mutations Linked to Episodic
            Ataxia Type 1 Studied in the Shaker Kv Channel. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 7985)
  AUTHORS   Uhan S, Zidar N, Tomazic A and Hauptman N.
  TITLE     Hypermethylated promoters of genes UNC5D and KCNA1 as potential
            novel diagnostic biomarkers in colorectal cancer
  JOURNAL   Epigenomics 12 (19), 1677-1688 (2020)
   PUBMED   33078631
  REMARK    GeneRIF: Hypermethylated promoters of genes UNC5D and KCNA1 as
            potential novel diagnostic biomarkers in colorectal cancer.
REFERENCE   4  (bases 1 to 7985)
  AUTHORS   Yuan H, Yuan H, Wang Q, Ye W, Yao R, Xu W and Liu Y.
  TITLE     Two novel KCNA1 variants identified in two unrelated Chinese
            families affected by episodic ataxia type 1 and neurodevelopmental
            disorders
  JOURNAL   Mol Genet Genomic Med 8 (10), e1434 (2020)
   PUBMED   32705822
  REMARK    GeneRIF: Two novel KCNA1 variants identified in two unrelated
            Chinese families affected by episodic ataxia type 1 and
            neurodevelopmental disorders.
REFERENCE   5  (bases 1 to 7985)
  AUTHORS   Kim E, Niethammer M, Rothschild A, Jan YN and Sheng M.
  TITLE     Clustering of Shaker-type K+ channels by interaction with a family
            of membrane-associated guanylate kinases
  JOURNAL   Nature 378 (6552), 85-88 (1995)
   PUBMED   7477295
REFERENCE   6  (bases 1 to 7985)
  AUTHORS   Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P and
            Litt M.
  TITLE     Episodic ataxia/myokymia syndrome is associated with point mutations
            in the human potassium channel gene, KCNA1
  JOURNAL   Nat Genet 8 (2), 136-140 (1994)
   PUBMED   7842011
REFERENCE   7  (bases 1 to 7985)
  AUTHORS   Hasan,S.M. and D'Adamo,M.C.
  TITLE     Episodic Ataxia Type 1
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301785
REFERENCE   8  (bases 1 to 7985)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301317
REFERENCE   9  (bases 1 to 7985)
  AUTHORS   Curran ME, Landes GM and Keating MT.
  TITLE     Molecular cloning, characterization, and genomic localization of a
            human potassium channel gene
  JOURNAL   Genomics 12 (4), 729-737 (1992)
   PUBMED   1349297
REFERENCE   10  (bases 1 to 7985)
  AUTHORS   Freeman SN, Conley EC, Brennand JC, Russell NJ and Brammar WJ.
  TITLE     Cloning and characterization of a cDNA encoding a human brain
            potassium channel
  JOURNAL   Biochem Soc Trans 18 (5), 891-892 (1990)
   PUBMED   2128063
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.830717.1,
            SRR1803621.9971.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000382545.5/ ENSP00000371985.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA336089.1, DA236475.1 and
            AC006063.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 22, 2018 this sequence version replaced NM_000217.2.
            Summary: This gene encodes a voltage-gated delayed potassium
            channel that is phylogenetically related to the Drosophila Shaker
            channel. The encoded protein has six putative transmembrane
            segments (S1-S6), and the loop between S5 and S6 forms the pore and
            contains the conserved selectivity filter motif (GYGD). The
            functional channel is a homotetramer. The N-terminus of the channel
            is associated with beta subunits that can modify the inactivation
            properties of the channel as well as affect expression levels. The
            C-terminus of the channel is complexed to a PDZ domain protein that
            is responsible for channel targeting. Mutations in this gene have
            been associated with myokymia with periodic ataxia (AEMK).
            [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7985
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.32"
     gene            1..7985
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="potassium voltage-gated channel subfamily A member
                     1"
                     /db_xref="GeneID:3736"
                     /db_xref="HGNC:HGNC:6218"
                     /db_xref="MIM:176260"
     misc_feature    991..993
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="upstream in-frame stop codon"
     CDS             1108..2595
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="voltage-gated potassium channel subunit Kv1.1;
                     voltage-gated K(+) channel HuKI; voltage-gated potassium
                     channel HBK1; potassium voltage-gated channel,
                     shaker-related subfamily, member 1 (episodic ataxia with
                     myokymia); potassium channel, voltage gated shaker related
                     subfamily A, member 1"
                     /codon_start=1
                     /product="potassium voltage-gated channel subfamily A
                     member 1"
                     /protein_id="NP_000208.2"
                     /db_xref="CCDS:CCDS8535.1"
                     /db_xref="GeneID:3736"
                     /db_xref="HGNC:HGNC:6218"
                     /db_xref="MIM:176260"
                     /translation="MTVMSGENVDEASAAPGHPQDGSYPRQADHDDHECCERVVINISG
                     LRFETQLKTLAQFPNTLLGNPKKRMRYFDPLRNEYFFDRNRPSFDAILYYYQSGGRLRR
                     PVNVPLDMFSEEIKFYELGEEAMEKFREDEGFIKEEERPLPEKEYQRQVWLLFEYPESS
                     GPARVIAIVSVMVILISIVIFCLETLPELKDDKDFTGTVHRIDNTTVIYNSNIFTDPFF
                     IVETLCIIWFSFELVVRFFACPSKTDFFKNIMNFIDIVAIIPYFITLGTEIAEQEGNQK
                     GEQATSLAILRVIRLVRVFRIFKLSRHSKGLQILGQTLKASMRELGLLIFFLFIGVILF
                     SSAVYFAEAEEAESHFSSIPDAFWWAVVSMTTVGYGDMYPVTIGGKIVGSLCAIAGVLT
                     IALPVPVIVSNFNYFYHRETEGEEQAQLLHVSSPNLASDSDLSRRSSSTMSKSEYMEIE
                     EDMNNSIAHYRQVNIRTANCTTANQNCVNKSKLLTDV"
     misc_feature    1108..1491
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09470.2);
                     Region: Tetramerization domain.
                     /evidence=ECO:0000250|UniProtKB:P10499"
     misc_feature    1108..1197
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09470.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1174..1176
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P10499; propagated from
                     UniProtKB/Swiss-Prot (Q09470.2); phosphorylation site"
     misc_feature    1600..1665
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09470.2);
                     transmembrane region"
     misc_feature    1726..1728
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q09470.2); glycosylation site"
     misc_feature    1768..1833
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09470.2);
                     transmembrane region"
     misc_feature    1867..1929
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09470.2);
                     transmembrane region"
     misc_feature    1969..2031
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09470.2);
                     transmembrane region"
     misc_feature    2035..2076
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09470.2);
                     Region: S4-S5 linker.
                     /evidence=ECO:0000250|UniProtKB:P63142"
     misc_feature    2071..2073
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="Phosphoserine, by PKA. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (Q09470.2);
                     phosphorylation site"
     misc_feature    2077..2142
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09470.2);
                     transmembrane region"
     misc_feature    2221..2238
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09470.2);
                     Region: Selectivity filter.
                     /evidence=ECO:0000250|UniProtKB:P63142"
     misc_feature    2266..2352
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09470.2);
                     transmembrane region"
     misc_feature    2416..2418
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P10499; propagated from
                     UniProtKB/Swiss-Prot (Q09470.2); phosphorylation site"
     misc_feature    2422..2424
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P10499; propagated from
                     UniProtKB/Swiss-Prot (Q09470.2); phosphorylation site"
     misc_feature    2443..2445
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000305|PubMed:23774215; propagated from
                     UniProtKB/Swiss-Prot (Q09470.2); phosphorylation site"
     misc_feature    2584..2592
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09470.2);
                     Region: PDZ-binding. /evidence=ECO:0000250"
     regulatory      7952..7957
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="hexamer: ATTAAA"
     polyA_site      7985
                     /gene="KCNA1"
                     /gene_synonym="AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1;
                     RBK1"
                     /note="major polyA site"
ORIGIN
        1 agaaatggac cgagcggacc cgccgccgca cgcaccctgc tccactccaa gctcctaagg
       61 gctcctggcg cgccgcgtag ccttggcgag gtccgcgctg gggtgcggag agcgaaggga
      121 actggagagc catgtagatc caggctctcg cccgcccgcc tccttcggga tcgaatcaag
      181 ggctcccata gtgttaggag ggggcgagag tgctgtttat cgtcatttgc ctcggagctt
      241 cgagagaggg tggtattttg cttttccgcc ccgcatcctc cggaactccc tgcaccggag
      301 agaggacggc gtctccaggt tgctggcaac cggtgagaat gggggtaggg aaggaacatt
      361 ttcgccgtag ctgctccgta aagcgattgt ccaactgaga ggggcgtcgg acgagtggac
      421 cagggcggcg agtttgcccg gcgcgtctcg gatgctgctg cggcggccgc cgcggctccc
      481 gccagggcac tgcaaagacg acctgccgca ttcccactcg ggctctccgc tgactcagca
      541 ccgcccctgc gccaagccag ccggccagcg tgcatcgatc gccctggtgg gagcttagaa
      601 ggcggcaggc gaagaggggt aggagggggg agagccgagg agaagcagag agggtggcag
      661 gcgtggggat ctgccgagcc ggcactgcac cgggtcctag gaaggctctc ggaggggagg
      721 ggaggccagg gcgacccccg aagcaatggc ccagtccgct agaacggcac tgcgttaagg
      781 cacctgggat caggaagaaa tatctaaaca acaacaacag aaaaccaaca aacccccaaa
      841 cccaaaccca accctctgca aaaagctgca cccggcccgc aggcgagggg gattccaaac
      901 tgagtgaaag gcagggtgga ggggaaggca gcgagaggca aagtcgcaga tctcccgacc
      961 tgctcgtgtt gaagcacctc cccctgggcg tgagggagac gcgcgctccg gtgggggggc
     1021 cgcttgggtc ccccccaccc ctggtccctg gctgcttccc accccgggct ctctcctggc
     1081 ctcccacccc cgcgcccggc ttccaccatg acggtgatgt ctggggagaa cgtggacgag
     1141 gcttcggccg ccccgggcca cccccaggat ggcagctacc cccggcaggc cgaccacgac
     1201 gaccacgagt gctgcgagcg cgtggtgatc aacatctccg ggctgcgctt cgagacgcag
     1261 ctcaagaccc tggcgcagtt ccccaacacg ctgctgggca accctaagaa acgcatgcgc
     1321 tacttcgacc ccctgaggaa cgagtacttc ttcgaccgca accggcccag cttcgacgcc
     1381 atcctctact actaccagtc cggcggccgc ctgcggaggc cggtcaacgt gcccctggac
     1441 atgttctccg aggagatcaa gttttacgag ttgggcgagg aggccatgga gaagttccgg
     1501 gaggacgagg gcttcatcaa ggaggaggag cgccctctgc ccgagaagga gtaccagcgc
     1561 caggtgtggc tgctcttcga gtaccccgag agctcggggc ccgccagggt catcgccatc
     1621 gtctccgtca tggtcatcct catctccatc gtcatctttt gcctggagac gctccccgag
     1681 ctgaaggatg acaaggactt cacgggcacc gtccaccgca tcgacaacac cacggtcatc
     1741 tacaattcca acatcttcac agaccccttc ttcatcgtgg aaacgctgtg tatcatctgg
     1801 ttctccttcg agctggtggt gcgcttcttc gcctgcccca gcaagacgga cttcttcaaa
     1861 aacatcatga acttcataga cattgtggcc atcattcctt atttcatcac gctgggcacc
     1921 gagatagctg agcaggaagg aaaccagaag ggcgagcagg ccacctccct ggccatcctc
     1981 agggtcatcc gcttggtaag ggtttttaga atcttcaagc tctcccgcca ctctaagggc
     2041 ctccagatcc tgggccagac cctcaaagct agtatgagag agctagggct gctcatcttt
     2101 ttcctcttca tcggggtcat cctgttttct agtgcagtgt actttgccga ggcggaagaa
     2161 gctgagtcgc acttctccag tatccccgat gctttctggt gggcggtggt gtccatgacc
     2221 actgtaggat acggtgacat gtaccctgtg acaattggag gcaagatcgt gggctccttg
     2281 tgtgccatcg ctggtgtgct aacaattgcc ctgcccgtac ctgtcattgt gtccaatttc
     2341 aactatttct accaccgaga aactgagggg gaagagcagg ctcagttgct ccacgtcagt
     2401 tcccctaact tagcctctga cagtgacctc agtcgccgca gttcctctac tatgagcaag
     2461 tctgagtaca tggagatcga agaggatatg aataatagca tagcccatta tagacaggtc
     2521 aatatcagaa ctgccaattg caccactgct aaccaaaact gcgttaataa gagcaagcta
     2581 ctgaccgatg tttaaaaaac aaaggcaagc aaacaaaaaa gccccactta gcagctcaaa
     2641 agacttaaaa aacaaaacag aaaacctagt gactcatgtc acgctttgta gatactttac
     2701 taagtagact tggaatgctc tatttaactg tcaatgcgtt gttgcattga ggattttggg
     2761 ggtggtgaac cagaagcttt caagatccat gacaaaataa actattttcc ttttattaaa
     2821 aaatgggaaa agagagagta ttttctaaaa ctggcttaaa aagattcagt ccacgaacta
     2881 gtctaggtaa aataataatc atatgcttcc ccaaactgaa acatttttaa tgctttggtt
     2941 tctttaactt ttttaaaaac tcagaacaag atgatcactt agaaatatga aattgaaatt
     3001 cgcatgggac tccagtaaaa catctttgca aactgcgtag cacattgaag acagtgcatc
     3061 agatgtatta tatgtaacat gatagaccag ccaaaatgga caatgaatag atatttttat
     3121 ttcgatcaac tgaactgcat attacaaggt gaaaaaagaa aactccgatt acttaagact
     3181 ggttcacaaa gcaccttata aattggatac tggtcctgat ctgtagggat ttccccctgg
     3241 gcccattctc tttctaatcc agattattct ctaagaaaaa gttaactgaa ttaaattaat
     3301 tgattcttct gcagtgccgc taaatggtct caactgcaga tgagccaaat acaggtcttt
     3361 tctcaccagg cctgcactcc gacccctggc tttcagaact ggatgtaaaa ccttagcctc
     3421 cttattgcaa gagagcacaa atgaagttaa atgtaagcat gtttgaatct gatacaattt
     3481 attttataat cgcatgctga gaagttaacc cagacaatag gggataagct taagttgaaa
     3541 tcgattcttc taaaaataga tcctttttca tttgcattca ccaaaagtgc actcctccat
     3601 ttattaacta ttttattagt aaataaagta ctgtatttaa gtgcatatgt tagtcagatg
     3661 ggaacaataa ctttttggag ctcaaagcat gttctcttat tcagcattat ggcctatttg
     3721 actaagatgt accttgaatt aattaatgca tgatttcagt aataaaaatt ttaaaagtaa
     3781 taaaaattac aagtctgtgg ggtgaaaggc ccaatagaaa ttatgggggg tgggggtggg
     3841 ggcactcagt caattttcct gcctttgctc agggaaatac caggtttttg tgcaggtata
     3901 ggcggagaga ggaccaatat gcccatccct taaagggaag ccatgtgaaa aactcaataa
     3961 gtcatcaaag tacatatagc aacacctaag aacaagtatt ctttctagct gaagacaaac
     4021 acaagcaaca caaacaagca aacaaacaaa caaacaaaaa ggtgcaatac tgcatgtttt
     4081 ttggtgcatt cttaggatgt aaatgaaaat gtttctctat tatatgcatc cgaagcagag
     4141 ctgatttttt tttctttgca gtcattcttt gaagtctgta gagacttcag ccctcccctt
     4201 gaggctccct gaagaaacta aaccaattga tttaatagtt gcttagtgcc tttatcctgt
     4261 acccacagtg aactgtagaa agtgcctcct taacacagct gagaagttag gtagcaaaag
     4321 tggggaaggg ttggggcaca gaccttttgc tttttctttt tccattctcg ctctctcatt
     4381 tcaccactgt gagaagacca caccacccta aaccctggag aggagagacc caggagggtg
     4441 ctgtctctct ggccatctac tagcattggt ccctttgaca gcctgacgct ggatgtgaac
     4501 tgagacccat ctttgaactg gacatgaact gtgaacttgt tttttcctct ctccaccaaa
     4561 gccaagataa actttttggg aatttgtttc ctatcgaggg ccactttgga cacacaaggc
     4621 ttcctcaggt ccagtgtagt gctcctggca cctttcctta tttttttctc tgtcggtaac
     4681 agcactttgc aaatctctct gacggtccag tcttttcagg cattgttgtg gatgtgggaa
     4741 cactcagttc ataataacct ttcctaggcc ttccctcctg gtctacccct ttcagatatt
     4801 tcctgatgcc cctatgatct tcccacctgg cagtcacttc acaggttgaa catctaactt
     4861 ctgctgcccc cccgttaccc agcccagaga atggtgggga ccctgttcct ggctgaaaga
     4921 gagccacgga acacaggcct ctggagctcg gcagctgccc accggtggag aggtactcac
     4981 agcctttcaa aggaccctga ggtggggaat cttcattctg cacttagcat gtggctgcct
     5041 gttacctgac attctggccc agcttcttct gaaaatctgt cctgcttctc ccaccccttt
     5101 cccccatcct gtcctagaac tagcagtgag gcaatcaccc tagaaactcg agttacaccc
     5161 attctggcta actcgattaa aagaaagaac atggatatct tattttccta tgtgactttt
     5221 gtgaatctgt gagatgaaca caacacacat cgtggaagat gaggggccaa gaactgcgca
     5281 gcatccgact acagggcatt aaaccctccc atgtgatgtc tccttctcgt ctgaacctta
     5341 actcattctg gcgattcctt tcctacttgc ttaaaaatcc ccaattagga aaaaaatgcc
     5401 aacctcctcc caggcttggg gttatcttga tctttcattt caacgttgag gtctagtgca
     5461 cacagaactt gaaacaccgc actctgtcaa cagcaataat ccactcagta ctgtgggatg
     5521 gatgggttaa tggatgagaa aacggcacca agactgactt tgggtatttg gtatatttac
     5581 cgtggttaca ctctggactg gttgattctt ctgcatgtga tatagaaaaa agtgctgcat
     5641 gcggtgaacc tgtcagtctg ggactggggg tgagttgttg ttatgagttt ggggtggtgt
     5701 gaggaaagtg aatgctgctt agctcatctg tagctcattg caatgaattc agtaagaatg
     5761 gagtacaggg attatctgtg tagcataggc atgcaatgtt tgaccaagct cttaccctcg
     5821 cactgtaatg tgttgaaatg tctttgtaga cctgaaggtg cacttaacaa aactgcctat
     5881 taagggatga ctattttttg gtttacttat tcatatttat tttagcagcc tttttacctt
     5941 ttcttcccct tcctaggcat ggagctgtaa cagctcatgt cctgactatg tgttttctcc
     6001 agaaggagaa gacttctgat gtgctgatag ctataattcc tctcttccag tctattgggg
     6061 ccctagttca atagggtggc aatagaagag ttggtcacac cagggctgtt agccatccca
     6121 gaatctctga agtggttaac tcacctgaag tgatctgaat cagagagacc aaagacattc
     6181 atttcctctg tcctcagatt tctagaagac aaattctagc caggaaaact ttctgttttt
     6241 gcatctccct tttcccattt gtgcccaact ccccttgcac tccctggaga cttgagttct
     6301 gattttcagt tatatcagct cattgggagt gtgttcgtgg gtgagccttg cagaatcaga
     6361 taaaccaata gcaagtcctt ctccaggatt ctggccagtg ggcagtcatt tccctgaaat
     6421 gaattgtagg gcaggtttag attccactat ggtggacgtg aagcacaggt ggtgtcacaa
     6481 tcttgatttg cttgagaatt aaaaaaatac atgtaaatgg taaatgagga atacattttt
     6541 ttaaagtaga aatttggttt agcctataaa aggccttctt cacattgtgt atagttacac
     6601 gtttttcaaa ttaggtacca tctaaaagtc aataaaaata gtttcctagc cctctcattt
     6661 aatataggag acctcaaaac acatgctttt taacaatttt acattttaat tcttagtttg
     6721 gtagattgga ttgaaagaaa ggagaaagaa cattagcaga aggcactttc ccattttctt
     6781 ccaggaatga cttattcctg gggtggtgag aattggtggg tggtaaccat ccatagtata
     6841 aaattgttag aaagaatata aactgccaaa caagcatgtt atcttcaggc ttttccaagc
     6901 aagaatgaag tcttttgatg tttatgttca ttttaagaag acaaacaaac taaaatttta
     6961 agaccagaca caacccaagt tgaattgtga tctcaggagg tgaactctca ttcaccatgt
     7021 ggcatattac tacctgtatt tatatcatgg aatttcaggg tatatgtgaa catgtctagt
     7081 atgactcagg taaaccttta aagaatgtat gttacttacc atttttgtaa agaagcaaac
     7141 aggagctgaa ttgttaacca aaactgttcc attaccttgg gtcactgtgc aaactaattc
     7201 agggtacaga tataaagttt agaagccttg ggattaaatg ccagcctctt tgctcaggca
     7261 aaatgaccct gggctttctt gggaagtcca gcatgtatgt aaggggtgag gccctgctga
     7321 cctcagggct tttcgcttta aggagattaa ccctagtcac agtgattttc atttaggagc
     7381 taactaggag tttactcttt atgacgtgaa acttcaaaga gtatagaaaa cttttgtacc
     7441 acaatcaaag aagaagaaat ggtgtatgga aagaaaacaa aacaaaacaa gaaatctctt
     7501 gtaaaatatt ccaggtcaaa gttgtctcct ctccaaacct tgcagaagca cctttcttct
     7561 cttcagcgca ctgttttggg actgtttatg cagcagatgt aagtagacaa catggactcc
     7621 atgtgacatg cctctaatag taaagataaa gtattactga ggttaaaaat aaaaattgag
     7681 tagtattaat ttaaagtgca ccatcaggac aacaaaccat ttaagctgaa aaaacgctat
     7741 tttatttctt gagtttgcca gttgcttcca ccttgagtta aggacgtgtc tcatcttcac
     7801 ctactgcgca ttctcccttc tctaactgtg taatatgtca ggtcaaggac attgaatgtt
     7861 atgaattgag aacctaattg atgcgcatag ttttcatcta tgcaatttta cttgcttctg
     7921 tcactttacg atctgttcat atttggcatc aattaaagat actttttaag gatcttatca
     7981 aggaa
//
LOCUS       NM_000218               3224 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily Q member 1
            (KCNQ1), transcript variant 1, mRNA.
ACCESSION   NM_000218
VERSION     NM_000218.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3224)
  AUTHORS   Zhao N, Yu Z, Cai Z, Chen W, He X, Huo Z and Lin X.
  TITLE     Novel combinations of variations in KCNQ1 were associated with
            patients with long QT syndrome or Jervell and Lange-Nielsen syndrome
  JOURNAL   BMC Cardiovasc Disord 23 (1), 399 (2023)
   PUBMED   37568094
  REMARK    GeneRIF: Novel combinations of variations in KCNQ1 were associated
            with patients with long QT syndrome or Jervell and Lange-Nielsen
            syndrome. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3224)
  AUTHORS   Bates A, Stowe RB, Travis EM, Cook LE, Dabney-Smith C and Lorigan
            GA.
  TITLE     The role of native cysteine residues in the oligomerization of KCNQ1
            channels
  JOURNAL   Biochem Biophys Res Commun 659, 34-39 (2023)
   PUBMED   37031592
  REMARK    GeneRIF: The role of native cysteine residues in the oligomerization
            of KCNQ1 channels.
REFERENCE   3  (bases 1 to 3224)
  AUTHORS   Hu Y, Yu Y, Dong H and Jiang W.
  TITLE     Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic candidate
            genes for diabetic nephropathy using bioinformatics analysis
  JOURNAL   PeerJ 11, e15437 (2023)
   PUBMED   37250717
  REMARK    GeneRIF: Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic
            candidate genes for diabetic nephropathy using bioinformatics
            analysis. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3224)
  AUTHORS   Mohammad F, Mondal T and Kanduri C.
  TITLE     Epigenetics of imprinted long noncoding RNAs
  JOURNAL   Epigenetics 4 (5), 277-286 (2009)
   PUBMED   19617707
  REMARK    Review article
REFERENCE   5  (bases 1 to 3224)
  AUTHORS   Lee MP, Hu RJ, Johnson LA and Feinberg AP.
  TITLE     Human KVLQT1 gene shows tissue-specific imprinting and encompasses
            Beckwith-Wiedemann syndrome chromosomal rearrangements
  JOURNAL   Nat Genet 15 (2), 181-185 (1997)
   PUBMED   9020845
  REMARK    GeneRIF: KCNQ1 gene is imprinted in a tissue-specific manner, with
            preferential expression from the maternal allele in some tissues,
            excluding cardiac muscle.
REFERENCE   6  (bases 1 to 3224)
  AUTHORS   de Jager T, Corbett CH, Badenhorst JC, Brink PA and Corfield VA.
  TITLE     Evidence of a long QT founder gene with varying phenotypic
            expression in South African families
  JOURNAL   J Med Genet 33 (7), 567-573 (1996)
   PUBMED   8818942
REFERENCE   7  (bases 1 to 3224)
  AUTHORS   Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ,
            Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Toubin JA,
            Moss AJ, Atkinson DL, Landes GM, Connors TD and Keating MT.
  TITLE     Positional cloning of a novel potassium channel gene: KVLQT1
            mutations cause cardiac arrhythmias
  JOURNAL   Nat Genet 12 (1), 17-23 (1996)
   PUBMED   8528244
REFERENCE   8  (bases 1 to 3224)
  AUTHORS   Tranebjaerg,L., Samson,R.A. and Green,G.E.
  TITLE     Jervell and Lange-Nielsen Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301579
REFERENCE   9  (bases 1 to 3224)
  AUTHORS   Shuman,C., Kalish,J.M. and Weksberg,R.
  TITLE     Beckwith-Wiedemann Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301568
REFERENCE   10  (bases 1 to 3224)
  AUTHORS   Alders,M., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301308
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF000571.1, U89364.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            imprinted gene              :: PMID: 9020845, 19617707
            MANE Ensembl match          :: ENST00000155840.12/ ENSP00000155840.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF000571.1, AI439544.1,
            BC017074.1 and AI473902.1.
            On Aug 31, 2019 this sequence version replaced NM_000218.2.
            Summary: This gene encodes a voltage-gated potassium channel
            required for repolarization phase of the cardiac action potential.
            This protein can form heteromultimers with two other potassium
            channel proteins, KCNE1 and KCNE3. Mutations in this gene are
            associated with hereditary long QT syndrome 1 (also known as
            Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and
            familial atrial fibrillation. This gene exhibits tissue-specific
            imprinting, with preferential expression from the maternal allele
            in some tissues, and biallelic expression in others. This gene is
            located in a region of chromosome 11 amongst other imprinted genes
            that are associated with Beckwith-Wiedemann syndrome (BWS), and
            itself has been shown to be disrupted by chromosomal rearrangements
            in patients with BWS. Alternatively spliced transcript variants
            have been found for this gene. [provided by RefSeq, Aug 2011].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3224
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5-p15.4"
     gene            1..3224
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="potassium voltage-gated channel subfamily Q member
                     1"
                     /db_xref="GeneID:3784"
                     /db_xref="HGNC:HGNC:6294"
                     /db_xref="MIM:607542"
     CDS             92..2122
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="isoform 1 is encoded by transcript variant 1; kidney
                     and cardiac voltage dependend K+ channel; slow delayed
                     rectifier channel subunit; voltage-gated potassium channel
                     subunit Kv7.1; potassium voltage-gated channel, KQT-like
                     subfamily, member 1; IKs producing slow voltage-gated
                     potassium channel subunit alpha KvLQT1; potassium channel,
                     voltage gated KQT-like subfamily Q, member 1"
                     /codon_start=1
                     /product="potassium voltage-gated channel subfamily KQT
                     member 1 isoform 1"
                     /protein_id="NP_000209.2"
                     /db_xref="CCDS:CCDS7736.1"
                     /db_xref="GeneID:3784"
                     /db_xref="HGNC:HGNC:6294"
                     /db_xref="MIM:607542"
                     /translation="MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGP
                     AGGALYAPIAPGAPGPAPPASPAAPAAPPVASDLGPRPPVSLDPRVSIYSTRRPVLART
                     HVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVL
                     VVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVF
                     ATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVY
                     LAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFF
                     ALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKA
                     PRSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSV
                     DGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLDLEGETLLTPITHISQLREHHRATIKVI
                     RRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISV
                     SEKSKDRGSNTIGARLNRVEDKVTQLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGG
                     AHITQPCGSGGSVDPELFLPSNTLPTYEQLTVPRRGPDEGS"
     misc_feature    92..175
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P51787.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    170..172
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:11799244; propagated from
                     UniProtKB/Swiss-Prot (P51787.3); phosphorylation site"
     misc_feature    275..343
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P51787.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    455..517
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P51787.3);
                     transmembrane region"
     misc_feature    533..595
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P51787.3);
                     transmembrane region"
     misc_feature    680..742
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P51787.3);
                     transmembrane region"
     misc_feature    767..835
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P51787.3);
                     transmembrane region"
     misc_feature    875..937
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P51787.3);
                     transmembrane region"
     misc_feature    956..958
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51787.3); glycosylation site"
     misc_feature    1025..1042
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P51787.3);
                     Region: Selectivity filter. /evidence=ECO:0000250"
     misc_feature    1073..1135
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P51787.3);
                     transmembrane region"
     misc_feature    1199..1237
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P51787.3);
                     Region: Interaction with CALM.
                     /evidence=ECO:0000269|PubMed:25441029"
     misc_feature    1310..1312
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97414; propagated from
                     UniProtKB/Swiss-Prot (P51787.3); phosphorylation site"
     misc_feature    1316..1318
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97414; propagated from
                     UniProtKB/Swiss-Prot (P51787.3); phosphorylation site"
     misc_feature    1634..1678
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P51787.3);
                     Region: Interaction with CALM, calcium-dependent.
                     /evidence=ECO:0000269|PubMed:25441029"
     misc_feature    1694..1807
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P51787.3);
                     Region: Interaction with KCNE1 C-terminus.
                     /evidence=ECO:0000269|PubMed:25037568"
     misc_feature    1853..1939
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P51787.3);
                     Region: Interaction with AKAP9.
                     /evidence=ECO:0000269|PubMed:11799244"
     misc_feature    1856..1951
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P51787.3);
                     Region: C-terminal assembly domain.
                     /evidence=ECO:0000269|PubMed:10654932"
     misc_feature    1949..2119
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P51787.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3091..3096
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="hexamer: AATAAA"
     polyA_site      3110
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
                     /note="major polyA site"
     polyA_site      3224
                     /gene="KCNQ1"
                     /gene_synonym="ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9;
                     Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS"
ORIGIN
        1 agtggctgcc cgcactgcgc ccgggcgctc gccttcgctg cagctcccgg tgccgccgct
       61 cgggccggcc ccccggcagg ccctcctcgt tatggccgcg gcctcctccc cgcccagggc
      121 cgagaggaag cgctggggtt ggggccgcct gccaggcgcc cggcggggca gcgcgggcct
      181 ggccaagaag tgccccttct cgctggagct ggcggagggc ggcccggcgg gcggcgcgct
      241 ctacgcgccc atcgcgcccg gcgccccagg tcccgcgccc cctgcgtccc cggccgcgcc
      301 cgccgcgccc ccagttgcct ccgaccttgg cccgcggccg ccggtgagcc tagacccgcg
      361 cgtctccatc tacagcacgc gccgcccggt gttggcgcgc acccacgtcc agggccgcgt
      421 ctacaacttc ctcgagcgtc ccaccggctg gaaatgcttc gtttaccact tcgccgtctt
      481 cctcatcgtc ctggtctgcc tcatcttcag cgtgctgtcc accatcgagc agtatgccgc
      541 cctggccacg gggactctct tctggatgga gatcgtgctg gtggtgttct tcgggacgga
      601 gtacgtggtc cgcctctggt ccgccggctg ccgcagcaag tacgtgggcc tctgggggcg
      661 gctgcgcttt gcccggaagc ccatttccat catcgacctc atcgtggtcg tggcctccat
      721 ggtggtcctc tgcgtgggct ccaaggggca ggtgtttgcc acgtcggcca tcaggggcat
      781 ccgcttcctg cagatcctga ggatgctaca cgtcgaccgc cagggaggca cctggaggct
      841 cctgggctcc gtggtcttca tccaccgcca ggagctgata accaccctgt acatcggctt
      901 cctgggcctc atcttctcct cgtactttgt gtacctggct gagaaggacg cggtgaacga
      961 gtcaggccgc gtggagttcg gcagctacgc agatgcgctg tggtgggggg tggtcacagt
     1021 caccaccatc ggctatgggg acaaggtgcc ccagacgtgg gtcgggaaga ccatcgcctc
     1081 ctgcttctct gtctttgcca tctccttctt tgcgctccca gcggggattc ttggctcggg
     1141 gtttgccctg aaggtgcagc agaagcagag gcagaagcac ttcaaccggc agatcccggc
     1201 ggcagcctca ctcattcaga ccgcatggag gtgctatgct gccgagaacc ccgactcctc
     1261 cacctggaag atctacatcc ggaaggcccc ccggagccac actctgctgt cacccagccc
     1321 caaacccaag aagtctgtgg tggtaaagaa aaaaaagttc aagctggaca aagacaatgg
     1381 ggtgactcct ggagagaaga tgctcacagt cccccatatc acgtgcgacc ccccagaaga
     1441 gcggcggctg gaccacttct ctgtcgacgg ctatgacagt tctgtaagga agagcccaac
     1501 actgctggaa gtgagcatgc cccatttcat gagaaccaac agcttcgccg aggacctgga
     1561 cctggaaggg gagactctgc tgacacccat cacccacatc tcacagctgc gggaacacca
     1621 tcgggccacc attaaggtca ttcgacgcat gcagtacttt gtggccaaga agaaattcca
     1681 gcaagcgcgg aagccttacg atgtgcggga cgtcattgag cagtactcgc agggccacct
     1741 caacctcatg gtgcgcatca aggagctgca gaggaggctg gaccagtcca ttgggaagcc
     1801 ctcactgttc atctccgtct cagaaaagag caaggatcgc ggcagcaaca cgatcggcgc
     1861 ccgcctgaac cgagtagaag acaaggtgac gcagctggac cagaggctgg cactcatcac
     1921 cgacatgctt caccagctgc tctccttgca cggtggcagc acccccggca gcggcggccc
     1981 ccccagagag ggcggggccc acatcaccca gccctgcggc agtggcggct ccgtcgaccc
     2041 tgagctcttc ctgcccagca acaccctgcc cacctacgag cagctgaccg tgcccaggag
     2101 gggccccgat gaggggtcct gaggagggga tggggctggg ggatgggcct gagtgagagg
     2161 ggaggccaag agtggcccca cctggccctc tctgaaggag gccacctcct aaaaggccca
     2221 gagagaagag ccccactctc agaggcccca ataccccatg gaccatgctg tctggcacag
     2281 cctgcacttg ggggctcagc aaggccacct cttcctggcc ggtgtggggg ccccgtctca
     2341 ggtctgagtt gttaccccaa gcgccctggc ccccacatgg tgatgttgac atcactggca
     2401 tggtggttgg gacccagtgg cagggcacag ggcctggccc atgtatggcc aggaagtagc
     2461 acaggctgag tgcaggccca ccctgcttgg cccagggggc ttcctgaggg gagacagagc
     2521 aacccctgga ccccagcctc aaatccagga ccctgccagg cacaggcagg gcaggaccag
     2581 cccacgctga ctacagggcc gccggcaata aaagcccagg agcccatttg gagggcctgg
     2641 gcctggctcc ctcactctca ggaaatgctg acccatgggc aggagactgt ggagactgct
     2701 cctgagcccc cagcttccag caggagggac agtctcacca tttccccagg gcacgtggtt
     2761 gagtgggggg aacgcccact tccctgggtt agactgccag ctcttcctag ctggagagga
     2821 gccctgcctc tccgcccctg agcccactgt gcgtggggct cccgcctcca acccctcgcc
     2881 cagtcccagc agccagccaa acacacagaa ggggactgcc acctcccctt gccagctgct
     2941 gagccgcaga gaagtgacgg ttcctacaca ggacaggggt tccttctggg cattacatcg
     3001 catagaaatc aataatttgt ggtgatttgg atctgtgttt taatgagttt cacagtgtga
     3061 ttttgattat taattgtgca agcttttcct aataaacgtg gagaatcaca ggctgggctg
     3121 ggcactgctc tcaccttggt tcctggggca tccatggggt ctctcacaga caggacccct
     3181 gcagttcccc tggaagcagt gcccaggtgg ctgtggaata ggaa
//
LOCUS       NM_000219               3505 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily E regulatory
            subunit 1 (KCNE1), transcript variant 2, mRNA.
ACCESSION   NM_000219
VERSION     NM_000219.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3505)
  AUTHORS   Renkhold L, Kollmann R, Inderwiedenstrasse L and Kienitz MC.
  TITLE     PKC-isoform specific regulation of receptor desensitization and
            KCNQ1/KCNE1 K+ channel activity by mutant alpha1B-adrenergic
            receptors
  JOURNAL   Cell Signal 91, 110228 (2022)
   PUBMED   34958868
  REMARK    GeneRIF: PKC-isoform specific regulation of receptor desensitization
            and KCNQ1/KCNE1 K(+) channel activity by mutant alpha1B-adrenergic
            receptors.
REFERENCE   2  (bases 1 to 3505)
  AUTHORS   Bhatt IS, Dias R and Torkamani A.
  TITLE     Association Analysis of Candidate Gene Polymorphisms and Tinnitus in
            Young Musicians
  JOURNAL   Otol Neurotol 42 (9), e1203-e1212 (2021)
   PUBMED   34282101
  REMARK    GeneRIF: Association Analysis of Candidate Gene Polymorphisms and
            Tinnitus in Young Musicians.
REFERENCE   3  (bases 1 to 3505)
  AUTHORS   Wu X, Perez ME, Noskov SY and Larsson HP.
  TITLE     A general mechanism of KCNE1 modulation of KCNQ1 channels involving
            non-canonical VSD-PD coupling
  JOURNAL   Commun Biol 4 (1), 887 (2021)
   PUBMED   34285340
  REMARK    GeneRIF: A general mechanism of KCNE1 modulation of KCNQ1 channels
            involving non-canonical VSD-PD coupling. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3505)
  AUTHORS   Timasheva Y, Badykov M, Akhmadishina L, Nasibullin T, Badykova E,
            Pushkareva A, Plechev V, Sagitov I and Zagidullin N.
  TITLE     Genetic predictors of sick sinus syndrome
  JOURNAL   Mol Biol Rep 48 (6), 5355-5362 (2021)
   PUBMED   34195885
  REMARK    GeneRIF: Genetic predictors of sick sinus syndrome.
REFERENCE   5  (bases 1 to 3505)
  AUTHORS   Malo MS, Srivastava K and Ingram VM.
  TITLE     Gene assignment by polymerase chain reaction: localization of the
            human potassium channel IsK gene to the Down's syndrome region of
            chromosome 21q22.1-q22.2
  JOURNAL   Gene 159 (2), 273-275 (1995)
   PUBMED   7622063
REFERENCE   6  (bases 1 to 3505)
  AUTHORS   Lai LP, Deng CL, Moss AJ, Kass RS and Liang CS.
  TITLE     Polymorphism of the gene encoding a human minimal potassium ion
            channel (minK)
  JOURNAL   Gene 151 (1-2), 339-340 (1994)
   PUBMED   7828904
REFERENCE   7  (bases 1 to 3505)
  AUTHORS   Chevillard C, Attali B, Lesage F, Fontes M, Barhanin J, Lazdunski M
            and Mattei MG.
  TITLE     Localization of a potassium channel gene (KCNE1) to 21q22.1-q22.2 by
            in situ hybridization and somatic cell hybridization
  JOURNAL   Genomics 15 (1), 243-245 (1993)
   PUBMED   8432548
REFERENCE   8  (bases 1 to 3505)
  AUTHORS   Tranebjaerg,L., Samson,R.A. and Green,G.E.
  TITLE     Jervell and Lange-Nielsen Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301579
REFERENCE   9  (bases 1 to 3505)
  AUTHORS   Alders,M., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301308
REFERENCE   10  (bases 1 to 3505)
  AUTHORS   Murai T, Kakizuka A, Takumi T, Ohkubo H and Nakanishi S.
  TITLE     Molecular cloning and sequence analysis of human genomic DNA
            encoding a novel membrane protein which exhibits a slowly activating
            potassium channel activity
  JOURNAL   Biochem Biophys Res Commun 161 (1), 176-181 (1989)
   PUBMED   2730656
COMMENT     ##Evidence-Data-START##
            Transcript exon combination      :: BC046224.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142670,
            SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000399286.3/ ENSP00000382226.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC046224.1, AP000324.1,
            KC877871.1 and AI720140.1.
            On Nov 23, 2018 this sequence version replaced NM_000219.5.
            Summary: The product of this gene belongs to the potassium channel
            KCNE family. Potassium ion channels are essential to many cellular
            functions and show a high degree of diversity, varying in their
            electrophysiologic and pharmacologic properties. This gene encodes
            a transmembrane protein known to associate with the product of the
            KVLQT1 gene to form the delayed rectifier potassium channel.
            Mutation in this gene are associated with both Jervell and
            Lange-Nielsen and Romano-Ward forms of long-QT syndrome.
            Alternatively spliced transcript variants encoding the same protein
            have been identified. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) is the longest transcript. All
            variants encode the same protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3505
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.12"
     gene            1..3505
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="potassium voltage-gated channel subfamily E
                     regulatory subunit 1"
                     /db_xref="GeneID:3753"
                     /db_xref="HGNC:HGNC:6240"
                     /db_xref="MIM:176261"
     misc_feature    327..329
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="upstream in-frame stop codon"
     misc_feature    552..554
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MPR"
     CDS             561..950
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="cardiac delayed rectifier potassium channel protein;
                     potassium channel, voltage gated subfamily E regulatory
                     beta subunit 1; delayed rectifier potassium channel subunit
                     IsK; potassium voltage-gated channel, Isk-related family,
                     member 1; IKs producing slow voltage-gated potassium
                     channel subunit beta Mink; minimal potassium channel;
                     potassium voltage-gated channel, Isk-related subfamily,
                     member 1; Long QT syndrome 5; voltage gated potassiun
                     channel accessory subunit"
                     /codon_start=1
                     /product="potassium voltage-gated channel subfamily E
                     member 1"
                     /protein_id="NP_000210.2"
                     /db_xref="CCDS:CCDS13636.1"
                     /db_xref="GeneID:3753"
                     /db_xref="HGNC:HGNC:6240"
                     /db_xref="MIM:176261"
                     /translation="MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEAL
                     YVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNVYIESDAWQEKDKAYVQARVLESYR
                     SCYVVENHLAIEQPNTHLPETKPSP"
     misc_feature    573..575
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21669976,
                     ECO:0000269|PubMed:21676880; propagated from
                     UniProtKB/Swiss-Prot (P15382.1); glycosylation site"
     misc_feature    579..581
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:21669976; propagated from
                     UniProtKB/Swiss-Prot (P15382.1); glycosylation site"
     misc_feature    615..617
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="Interacts with the scolopendra toxin SSD609.
                     /evidence=ECO:0000269|PubMed:26307551; propagated from
                     UniProtKB/Swiss-Prot (P15382.1); other site"
     misc_feature    636..638
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21676880; propagated from
                     UniProtKB/Swiss-Prot (P15382.1); glycosylation site"
     misc_feature    690..758
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="propagated from UniProtKB/Swiss-Prot (P15382.1);
                     transmembrane region"
     misc_feature    864..866
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="Phosphoserine, by PKC. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P15382.1);
                     phosphorylation site"
     misc_feature    885..947
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="propagated from UniProtKB/Swiss-Prot (P15382.1);
                     Region: interaction with KCNQ1 C-terminus.
                     /evidence=ECO:0000269|PubMed:25037568"
     regulatory      3486..3491
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="hexamer: ATTAAA"
     polyA_site      3505
                     /gene="KCNE1"
                     /gene_synonym="ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK"
                     /note="major polyA site"
ORIGIN
        1 gcatttgaca cttgactggg atacactacc ggatcctccg agggtgatgg ttctcaagaa
       61 ggcagaagca atggtgacca atagacctcc ttaaaggctg agccgctggg caccttccta
      121 ctcctctcga ccgtgctagg atgactgcag cagagtcccc gagtcctttg atgcaagggt
      181 ctagcaacca ccaaacagac aagcccttcg gcctgtcctg gagggcgttg aatggcatgg
      241 cctggagctc aaccaggaga accgtgctca ggaggaagag accagaagga taactcaaaa
      301 agttctgaga agttcctaag accacctgaa gagaaggagc ctgctgccaa tggtgtggac
      361 accgcagtgt gcttgaggag acttcagaaa cgagaactgg aaaaatccct ctgctttctc
      421 tggccagttt cacacaatca tcaggtgagc cgaggatcca ttggaggaag gcattatctg
      481 tatccagagg aaatagccaa ggatattcag aggtgtgcct gggaagtttg agctgcagca
      541 gtggaacctt aatgcccagg atgatcctgt ctaacaccac agcggtgacg ccctttctga
      601 ccaagctgtg gcaggagaca gttcagcagg gtggcaacat gtcgggcctg gcccgcaggt
      661 ccccccgcag cagtgacggc aagctggagg ccctctacgt cctcatggta ctgggattct
      721 tcggcttctt caccctgggc atcatgctga gctacatccg ctccaagaag ctggagcact
      781 cgaacgaccc attcaacgtc tacatcgagt ccgatgcctg gcaagagaag gacaaggcct
      841 atgtccaggc ccgggtcctg gagagctaca ggtcgtgcta tgtcgttgaa aaccatctgg
      901 ccatagaaca acccaacaca caccttcctg agacgaagcc ttccccatga accccaccac
      961 tggctaaaac tggacacatc ctgcctggca acctgatttt ctaatcacat tcctctcata
     1021 ctctttattg tgatggatac cactggattt ctttttggct gttgtaaggg gtgaggggtg
     1081 gattaatgac actgtttcac tgtttctcta aaatcacgtt cttttgtgat agactgtcag
     1141 tggttccccc atatctgtcc ctgccttgct aaatttagca gaatccctga ggacatggcc
     1201 tctgagaata gcagctgcat ttcccagact cccttgcagc tagcaaggtt gtgtgactaa
     1261 gccctggcca gtaggcatgg aagtgaagac tgtaatgtcc aagtaatcct tggaaagaaa
     1321 agaacgtgcc cttaactaac tttgtcctgc ttcccagtgg ctggatgtgg aggaggtgga
     1381 gagcagttat gagactggga aagaacgggg cactcaaaga gccacacaca tctgggcctg
     1441 ggcgacgtgg atcctcctta ccacccacca ggccagattt acaggagaga gaaatccact
     1501 ccactcttcc ttaagccact gttattctga tctctgttaa ggtcgcagaa tcaatgccct
     1561 tactgataca cctaccttat aggactgaac ctaaaggcat gacatttcca tacttgtcac
     1621 aagcacacac tgattctgcc cttgtcactt ctgtgctcac tcttgtggct ctatcctcct
     1681 cctgcccttc cgccttccac tcctcccttg cacccatcct gcacacatct ccctgaaaac
     1741 acacaggcac atacactcat atacatagac acacatacac acctcaatct agaaagaact
     1801 tgctttgtac agggctgaga tggaggagaa aaaaatgccc ccttcagaat gcataccaag
     1861 gggaaggtgc tcggtcactg tgggagcagg gaaaggtgcc cccactcccc gagagccagg
     1921 ggaaggagtg gctctgggca gagagggaca catagcactg gggtggcagg tccttttgag
     1981 gtgatgggcc ggttttgtga gatgaattgt atcccccaaa aagacaggta ccttcaatgt
     2041 gacctaattg ggaaatagag tctttgcaga tgatctagtt gagatgaggt cattggggtg
     2101 ggccctcacc caatatgact ggagtcctta tcggaagagg gaaattcaga cacagatgca
     2161 tagggaggac accatgccgt gacagaggca gagggtgcag tgacacagcc acaaaccaag
     2221 gaaggccgag gatggatgcg catccccatc ccaagaagtc gggaagaagc caggaaggct
     2281 cctctcccac aggtttcaga ggaagcacag ccctgcttga attcaaactt ttggcctcca
     2341 gaactgtgag tcagtacctg ttgttgaagc cacccagctt aggatactct ggcagcctac
     2401 tgccatacag tattgggata ctatagtgag cccatgcagc acctctcacc cacccagaga
     2461 tggagctgct ctgccttcca gcggggcacc cggagggctg ccccagcaga tagagagggc
     2521 ctccgttctg ccacctgcct tgaaagggtc tccagctgcc atatgtagca ttggagtcct
     2581 ctgcaatgcg acatcctgaa agctcagctg cctgggcatt cctgaagagt atggaatatt
     2641 taaatgaaac atattttttt aaaacctgcg cataagataa aagcagcccg tgtgcatctt
     2701 gggccatcct caaatggaca gacttggtct tgtgaggttc cagtccttgt ttcacataat
     2761 aaacactggc atggctcagc ccctgagtta ccacagtcct tgagatgagt ggttctttgg
     2821 gttacaaagt cctctgaaag tctagtgaga gctgtgatct ttgccccacc cgaataatgc
     2881 atatggacac cacaccttgc ctgccgtgtc caggattcat gaccagtagc agcccagcta
     2941 tgcctgccac gtctcacggc ccctgtgtaa gccagaccct tcttaggcag ttgcatattc
     3001 ccagactgag gcagggcagg tttgcagaga gagacccaga gtgcacgtga cccgcagtgt
     3061 gatccctggc acgcactgac tttgatattc caggcacacg gactggctat ttatcaccac
     3121 ttctttttcc ccactaagat tcctgtgcct tttaaggcag agggagatcc ctatggcgtt
     3181 agtcttccca ggccttaaag ggcccttgtc ttcactcaca aacctcttat ctcttcttct
     3241 ccttcctcta cattttaaag ggggagaggg aaaagtaacc gggagacaaa ttgagccaca
     3301 tattttcaga cacttgttac catattttaa aatctggctt cacatacaca gagtctttgc
     3361 tatgcaccat gtactgttct aagcttctta aaaatagaat ctcaattatt attttgcagg
     3421 caatactcta tgcattcatt agctaggaca acaatgcatt tgcagtagtg agatttcgct
     3481 aaaaaattaa agccatttac tatga
//
LOCUS       NM_000222               5147 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens KIT proto-oncogene, receptor tyrosine kinase (KIT),
            transcript variant 1, mRNA.
ACCESSION   NM_000222
VERSION     NM_000222.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5147)
  AUTHORS   Pharaon N, Habbal W and Monem F.
  TITLE     Bioinformatic analysis of KIT juxtamembrane domain mutations in
            Syrian GIST patients: jigsaw puzzle completed
  JOURNAL   J Egypt Natl Canc Inst 35 (1), 25 (2023)
   PUBMED   37574490
  REMARK    GeneRIF: Bioinformatic analysis of KIT juxtamembrane domain
            mutations in Syrian GIST patients: jigsaw puzzle completed.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5147)
  AUTHORS   Luo Z, Xu J, Xu D, Xu J, Zhou R, Deng K, Chen Z, Zou F, Yao L and Hu
            Y.
  TITLE     Mechanism of immune escape mediated by receptor tyrosine kinase KIT
            in thyroid cancer
  JOURNAL   Immun Inflamm Dis 11 (7), e851 (2023)
   PUBMED   37506147
  REMARK    GeneRIF: Mechanism of immune escape mediated by receptor tyrosine
            kinase KIT in thyroid cancer.
REFERENCE   3  (bases 1 to 5147)
  AUTHORS   Xiong Y, Taleb M, Misawa K, Hou Z, Banerjee S, Amador-Molina A,
            Jones DR, Chintala NK and Adusumilli PS.
  TITLE     c-Kit signaling potentiates CAR T cell efficacy in solid tumors by
            CD28- and IL-2-independent co-stimulation
  JOURNAL   Nat Cancer 4 (7), 1001-1015 (2023)
   PUBMED   37336986
  REMARK    GeneRIF: c-Kit signaling potentiates CAR T cell efficacy in solid
            tumors by CD28- and IL-2-independent co-stimulation.
REFERENCE   4  (bases 1 to 5147)
  AUTHORS   Franke K, Bal G, Li Z, Zuberbier T and Babina M.
  TITLE     Clorfl86/RHEX Is a Negative Regulator of SCF/KIT Signaling in Human
            Skin Mast Cells
  JOURNAL   Cells 12 (9), 1306 (2023)
   PUBMED   37174705
  REMARK    GeneRIF: Clorfl86/RHEX Is a Negative Regulator of SCF/KIT Signaling
            in Human Skin Mast Cells. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5147)
  AUTHORS   Ohshima K, Nagashima T, Fujiya K, Hatakeyama K, Watanabe Y, Morimoto
            K, Kamada F, Shimoda Y, Ohnami S, Naruoka A, Serizawa M, Ohnami S,
            Kenmotsu H, Shiomi A, Tsubosa Y, Bando E, Sugiura T, Sugino T,
            Terashima M, Uesaka K, Urakami K, Akiyama Y and Yamaguchi K.
  TITLE     Whole-genome and Epigenomic Landscapes of Malignant Gastrointestinal
            Stromal Tumors Harboring KIT Exon 11 557-558 Deletion Mutations
  JOURNAL   Cancer Res Commun 3 (4), 684-696 (2023)
   PUBMED   37377752
  REMARK    GeneRIF: Whole-genome and Epigenomic Landscapes of Malignant
            Gastrointestinal Stromal Tumors Harboring KIT Exon 11 557-558
            Deletion Mutations. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5147)
  AUTHORS   Spritz RA, Droetto S and Fukushima Y.
  TITLE     Deletion of the KIT and PDGFRA genes in a patient with piebaldism
  JOURNAL   Am J Med Genet 44 (4), 492-495 (1992)
   PUBMED   1279971
REFERENCE   7  (bases 1 to 5147)
  AUTHORS   Giebel LB, Strunk KM, Holmes SA and Spritz RA.
  TITLE     Organization and nucleotide sequence of the human KIT (mast/stem
            cell growth factor receptor) proto-oncogene
  JOURNAL   Oncogene 7 (11), 2207-2217 (1992)
   PUBMED   1279499
REFERENCE   8  (bases 1 to 5147)
  AUTHORS   Andre C, Martin E, Cornu F, Hu WX, Wang XP and Galibert F.
  TITLE     Genomic organization of the human c-kit gene: evolution of the
            receptor tyrosine kinase subclass III
  JOURNAL   Oncogene 7 (4), 685-691 (1992)
   PUBMED   1373482
REFERENCE   9  (bases 1 to 5147)
  AUTHORS   Duronio V, Welham MJ, Abraham S, Dryden P and Schrader JW.
  TITLE     p21ras activation via hemopoietin receptors and c-kit requires
            tyrosine kinase activity but not tyrosine phosphorylation of p21ras
            GTPase-activating protein
  JOURNAL   Proc Natl Acad Sci U S A 89 (5), 1587-1591 (1992)
   PUBMED   1371879
REFERENCE   10  (bases 1 to 5147)
  AUTHORS   Spritz RA, Giebel LB and Holmes SA.
  TITLE     Dominant negative and loss of function mutations of the c-kit
            (mast/stem cell growth factor receptor) proto-oncogene in human
            piebaldism
  JOURNAL   Am J Hum Genet 50 (2), 261-269 (1992)
   PUBMED   1370874
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC071593.1, SRR14038192.1813833.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000288135.6/ ENSP00000288135.6
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC376760.1, X06182.1 and
            BC071593.1.
            On Nov 30, 2019 this sequence version replaced NM_000222.2.
            Summary: This gene encodes a receptor tyrosine kinase. This gene
            was initially identified as a homolog of the feline sarcoma viral
            oncogene v-kit and is often referred to as proto-oncogene c-Kit.
            The canonical form of this glycosylated transmembrane protein has
            an N-terminal extracellular region with five immunoglobulin-like
            domains, a transmembrane region, and an intracellular tyrosine
            kinase domain at the C-terminus. Upon activation by its cytokine
            ligand, stem cell factor (SCF), this protein phosphorylates
            multiple intracellular proteins that play a role in in the
            proliferation, differentiation, migration and apoptosis of many
            cell types and thereby plays an important role in hematopoiesis,
            stem cell maintenance, gametogenesis, melanogenesis, and in mast
            cell development, migration and function. This protein can be a
            membrane-bound or soluble protein. Mutations in this gene are
            associated with gastrointestinal stromal tumors, mast cell disease,
            acute myelogenous leukemia, and piebaldism. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, May 2020].
            Transcript Variant: This variant (1) uses an alternate in-frame
            splice site in the coding region, compared to variant 3, resulting
            in a shorter protein (isoform 1). Isoforms 1 and 7 have identical
            lengths but distinct sequences.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5147
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     gene            1..5147
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="KIT proto-oncogene, receptor tyrosine kinase"
                     /db_xref="GeneID:3815"
                     /db_xref="HGNC:HGNC:6342"
                     /db_xref="MIM:164920"
     misc_feature    1
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="major transcription initiation site"
     CDS             59..2989
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /EC_number="2.7.10.1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; proto-oncogene tyrosine-protein kinase Kit; v-kit
                     Hardy-Zuckerman 4 feline sarcoma viral oncogene-like
                     protein; proto-oncogene c-Kit; p145 c-kit; piebald trait
                     protein; mast/stem cell growth factor receptor Kit; v-kit
                     Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog;
                     c-Kit protooncogene"
                     /codon_start=1
                     /product="mast/stem cell growth factor receptor Kit isoform
                     1 precursor"
                     /protein_id="NP_000213.1"
                     /db_xref="CCDS:CCDS3496.1"
                     /db_xref="GeneID:3815"
                     /db_xref="HGNC:HGNC:6342"
                     /db_xref="MIM:164920"
                     /translation="MRGARGAWDFLCVLLLLLRVQTGSSQPSVSPGEPSPPSIHPGKSD
                     LIVRVGDEIRLLCTDPGFVKWTFEILDETNENKQNEWITEKAEATNTGKYTCTNKHGLS
                     NSIYVFVRDPAKLFLVDRSLYGKEDNDTLVRCPLTDPEVTNYSLKGCQGKPLPKDLRFI
                     PDPKAGIMIKSVKRAYHRLCLHCSVDQEGKSVLSEKFILKVRPAFKAVPVVSVSKASYL
                     LREGEEFTVTCTIKDVSSSVYSTWKRENSQTKLQEKYNSWHHGDFNYERQATLTISSAR
                     VNDSGVFMCYANNTFGSANVTTTLEVVDKGFINIFPMINTTVFVNDGENVDLIVEYEAF
                     PKPEHQQWIYMNRTFTDKWEDYPKSENESNIRYVSELHLTRLKGTEGGTYTFLVSNSDV
                     NAAIAFNVYVNTKPEILTYDRLVNGMLQCVAAGFPEPTIDWYFCPGTEQRCSASVLPVD
                     VQTLNSSGPPFGKLVVQSSIDSSAFKHNGTVECKAYNDVGKTSAYFNFAFKGNNKEQIH
                     PHTLFTPLLIGFVIVAGMMCIIVMILTYKYLQKPMYEVQWKVVEEINGNNYVYIDPTQL
                     PYDHKWEFPRNRLSFGKTLGAGAFGKVVEATAYGLIKSDAAMTVAVKMLKPSAHLTERE
                     ALMSELKVLSYLGNHMNIVNLLGACTIGGPTLVITEYCCYGDLLNFLRRKRDSFICSKQ
                     EDHAEAALYKNLLHSKESSCSDSTNEYMDMKPGVSYVVPTKADKRRSVRIGSYIERDVT
                     PAIMEDDELALDLEDLLSFSYQVAKGMAFLASKNCIHRDLAARNILLTHGRITKICDFG
                     LARDIKNDSNYVVKGNARLPVKWMAPESIFNCVYTFESDVWSYGIFLWELFSLGSSPYP
                     GMPVDSKFYKMIKEGFRMLSPEHAPAEMYDIMKTCWDADPLKRPTFKQIVQLIEKQISE
                     STNHIYSNLANCSPNRQKPVVDHSVRINSVGSTASSSQPLLVHDDV"
     sig_peptide     59..133
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    446..448
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:17662946; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); glycosylation site"
     misc_feature    491..493
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P10721.1); glycosylation site"
     misc_feature    905..907
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17662946; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); glycosylation site"
     misc_feature    935..937
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17662946; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); glycosylation site"
     misc_feature    956..958
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17662946; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); glycosylation site"
     misc_feature    1016..1018
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17662946; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); glycosylation site"
     misc_feature    1112..1114
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17662946; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); glycosylation site"
     misc_feature    1157..1159
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17662946; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); glycosylation site"
     misc_feature    1445..1447
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P10721.1); glycosylation site"
     misc_feature    1514..1516
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P10721.1); glycosylation site"
     misc_feature    1631..1693
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="propagated from UniProtKB/Swiss-Prot (P10721.1);
                     transmembrane region"
     misc_feature    1697..1699
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000305|PubMed:20147452; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); phosphorylation site"
     misc_feature    1715..1717
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000305|PubMed:20147452; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); phosphorylation site"
     misc_feature    1760..1768
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="propagated from UniProtKB/Swiss-Prot (P10721.1);
                     Region: Important for interaction with
                     phosphotyrosine-binding proteins"
     misc_feature    1760..1762
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:12824176,
                     ECO:0000269|PubMed:19265199, ECO:0000269|PubMed:21030588,
                     ECO:0000269|PubMed:9038210; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); phosphorylation site"
     misc_feature    1766..1768
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:12824176,
                     ECO:0000269|PubMed:9038210; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); phosphorylation site"
     misc_feature    2165..2167
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:10377264,
                     ECO:0000269|PubMed:19265199, ECO:0000269|PubMed:20147452;
                     propagated from UniProtKB/Swiss-Prot (P10721.1);
                     phosphorylation site"
     misc_feature    2219..2221
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:19265199,
                     ECO:0000269|PubMed:20147452, ECO:0000269|PubMed:9038210;
                     propagated from UniProtKB/Swiss-Prot (P10721.1);
                     phosphorylation site"
     misc_feature    2246..2248
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000305|PubMed:20147452; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); phosphorylation site"
     misc_feature    2279..2281
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="Phosphoserine, by PKC/PRKCA.
                     /evidence=ECO:0000269|PubMed:7539802; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); phosphorylation site"
     misc_feature    2294..2296
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="Phosphoserine, by PKC/PRKCA.
                     /evidence=ECO:0000269|PubMed:7539802; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); phosphorylation site"
     misc_feature    2519..2521
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:7539802;
                     propagated from UniProtKB/Swiss-Prot (P10721.1);
                     phosphorylation site"
     misc_feature    2525..2527
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:20147452; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); phosphorylation site"
     misc_feature    2729..2731
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:12878163; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); phosphorylation site"
     misc_feature    2756..2758
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:12878163,
                     ECO:0000269|PubMed:20147452; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); phosphorylation site"
     misc_feature    2864..2866
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="Important for interaction with
                     phosphotyrosine-binding proteins; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); other site"
     misc_feature    2864..2866
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:10377264,
                     ECO:0000269|PubMed:19265199; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); phosphorylation site"
     misc_feature    2933..2935
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:7539802,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P10721.1); phosphorylation site"
     regulatory      5123..5128
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="hexamer: AATAAA"
     polyA_site      5147
                     /gene="KIT"
                     /gene_synonym="C-Kit; CD117; MASTC; PBT; SCFR"
                     /note="major polyA site"
ORIGIN
        1 gcacttgggc gagagctgga acgtggacca gagctcggat cccatcgcag ctaccgcgat
       61 gagaggcgct cgcggcgcct gggattttct ctgcgttctg ctcctactgc ttcgcgtcca
      121 gacaggctct tctcaaccat ctgtgagtcc aggggaaccg tctccaccat ccatccatcc
      181 aggaaaatca gacttaatag tccgcgtggg cgacgagatt aggctgttat gcactgatcc
      241 gggctttgtc aaatggactt ttgagatcct ggatgaaacg aatgagaata agcagaatga
      301 atggatcacg gaaaaggcag aagccaccaa caccggcaaa tacacgtgca ccaacaaaca
      361 cggcttaagc aattccattt atgtgtttgt tagagatcct gccaagcttt tccttgttga
      421 ccgctccttg tatgggaaag aagacaacga cacgctggtc cgctgtcctc tcacagaccc
      481 agaagtgacc aattattccc tcaaggggtg ccaggggaag cctcttccca aggacttgag
      541 gtttattcct gaccccaagg cgggcatcat gatcaaaagt gtgaaacgcg cctaccatcg
      601 gctctgtctg cattgttctg tggaccagga gggcaagtca gtgctgtcgg aaaaattcat
      661 cctgaaagtg aggccagcct tcaaagctgt gcctgttgtg tctgtgtcca aagcaagcta
      721 tcttcttagg gaaggggaag aattcacagt gacgtgcaca ataaaagatg tgtctagttc
      781 tgtgtactca acgtggaaaa gagaaaacag tcagactaaa ctacaggaga aatataatag
      841 ctggcatcac ggtgacttca attatgaacg tcaggcaacg ttgactatca gttcagcgag
      901 agttaatgat tctggagtgt tcatgtgtta tgccaataat acttttggat cagcaaatgt
      961 cacaacaacc ttggaagtag tagataaagg attcattaat atcttcccca tgataaacac
     1021 tacagtattt gtaaacgatg gagaaaatgt agatttgatt gttgaatatg aagcattccc
     1081 caaacctgaa caccagcagt ggatctatat gaacagaacc ttcactgata aatgggaaga
     1141 ttatcccaag tctgagaatg aaagtaatat cagatacgta agtgaacttc atctaacgag
     1201 attaaaaggc accgaaggag gcacttacac attcctagtg tccaattctg acgtcaatgc
     1261 tgccatagca tttaatgttt atgtgaatac aaaaccagaa atcctgactt acgacaggct
     1321 cgtgaatggc atgctccaat gtgtggcagc aggattccca gagcccacaa tagattggta
     1381 tttttgtcca ggaactgagc agagatgctc tgcttctgta ctgccagtgg atgtgcagac
     1441 actaaactca tctgggccac cgtttggaaa gctagtggtt cagagttcta tagattctag
     1501 tgcattcaag cacaatggca cggttgaatg taaggcttac aacgatgtgg gcaagacttc
     1561 tgcctatttt aactttgcat ttaaaggtaa caacaaagag caaatccatc cccacaccct
     1621 gttcactcct ttgctgattg gtttcgtaat cgtagctggc atgatgtgca ttattgtgat
     1681 gattctgacc tacaaatatt tacagaaacc catgtatgaa gtacagtgga aggttgttga
     1741 ggagataaat ggaaacaatt atgtttacat agacccaaca caacttcctt atgatcacaa
     1801 atgggagttt cccagaaaca ggctgagttt tgggaaaacc ctgggtgctg gagctttcgg
     1861 gaaggttgtt gaggcaactg cttatggctt aattaagtca gatgcggcca tgactgtcgc
     1921 tgtaaagatg ctcaagccga gtgcccattt gacagaacgg gaagccctca tgtctgaact
     1981 caaagtcctg agttaccttg gtaatcacat gaatattgtg aatctacttg gagcctgcac
     2041 cattggaggg cccaccctgg tcattacaga atattgttgc tatggtgatc ttttgaattt
     2101 tttgagaaga aaacgtgatt catttatttg ttcaaagcag gaagatcatg cagaagctgc
     2161 actttataag aatcttctgc attcaaagga gtcttcctgc agcgatagta ctaatgagta
     2221 catggacatg aaacctggag tttcttatgt tgtcccaacc aaggccgaca aaaggagatc
     2281 tgtgagaata ggctcataca tagaaagaga tgtgactccc gccatcatgg aggatgacga
     2341 gttggcccta gacttagaag acttgctgag cttttcttac caggtggcaa agggcatggc
     2401 tttcctcgcc tccaagaatt gtattcacag agacttggca gccagaaata tcctccttac
     2461 tcatggtcgg atcacaaaga tttgtgattt tggtctagcc agagacatca agaatgattc
     2521 taattatgtg gttaaaggaa acgctcgact acctgtgaag tggatggcac ctgaaagcat
     2581 tttcaactgt gtatacacgt ttgaaagtga cgtctggtcc tatgggattt ttctttggga
     2641 gctgttctct ttaggaagca gcccctatcc tggaatgccg gtcgattcta agttctacaa
     2701 gatgatcaag gaaggcttcc ggatgctcag ccctgaacac gcacctgctg aaatgtatga
     2761 cataatgaag acttgctggg atgcagatcc cctaaaaaga ccaacattca agcaaattgt
     2821 tcagctaatt gagaagcaga tttcagagag caccaatcat atttactcca acttagcaaa
     2881 ctgcagcccc aaccgacaga agcccgtggt agaccattct gtgcggatca attctgtcgg
     2941 cagcaccgct tcctcctccc agcctctgct tgtgcacgac gatgtctgag cagaatcagt
     3001 gtttgggtca cccctccagg aatgatctct tcttttggct tccatgatgg ttattttctt
     3061 ttctttcaac ttgcatccaa ctccaggata gtgggcaccc cactgcaatc ctgtctttct
     3121 gagcacactt tagtggccga tgatttttgt catcagccac catcctattg caaaggttcc
     3181 aactgtatat attcccaata gcaacgtagc ttctaccatg aacagaaaac attctgattt
     3241 ggaaaaagag agggaggtat ggactggggg ccagagtcct ttccaaggct tctccaattc
     3301 tgcccaaaaa tatggttgat agtttacctg aataaatggt agtaatcaca gttggccttc
     3361 agaaccatcc atagtagtat gatgatacaa gattagaagc tgaaaaccta agtcctttat
     3421 gtggaaaaca gaacatcatt agaacaaagg acagagtatg aacacctggg cttaagaaat
     3481 ctagtatttc atgctgggaa tgagacatag gccatgaaaa aaatgatccc caagtgtgaa
     3541 caaaagatgc tcttctgtgg accactgcat gagcttttat actaccgacc tggtttttaa
     3601 atagagtttg ctattagagc attgaattgg agagaaggcc tccctagcca gcacttgtat
     3661 atacgcatct ataaattgtc cgtgttcata catttgaggg gaaaacacca taaggtttcg
     3721 tttctgtata caaccctggc attatgtcca ctgtgtatag aagtagatta agagccatat
     3781 aagtttgaag gaaacagtta ataccatttt ttaaggaaac aatataacca caaagcacag
     3841 tttgaacaaa atctcctctt ttagctgatg aacttattct gtagattctg tggaacaagc
     3901 ctatcagctt cagaatggca ttgtactcaa tggatttgat gctgtttgac aaagttactg
     3961 attcactgca tggctcccac aggagtggga aaacactgcc atcttagttt ggattcttat
     4021 gtagcaggaa ataaagtata ggtttagcct ccttcgcagg catgtcctgg acaccgggcc
     4081 agtatctata tatgtgtatg tacgtttgta tgtgtgtaga caaatatttg gaggggtatt
     4141 tttgccctga gtccaagagg gtcctttagt acctgaaaag taacttggct ttcattatta
     4201 gtactgctct tgtttctttt cacatagctg tctagagtag cttaccagaa gcttccatag
     4261 tggtgcagag gaagtggaag gcatcagtcc ctatgtattt gcagttcacc tgcacttaag
     4321 gcactctgtt atttagactc atcttactgt acctgttcct tagaccttcc ataatgctac
     4381 tgtctcactg aaacatttaa attttaccct ttagactgta gcctggatat tattcttgta
     4441 gtttacctct ttaaaaacaa aacaaaacaa aacaaaaaac tccccttcct cactgcccaa
     4501 tataaaaggc aaatgtgtac atggcagagt ttgtgtgttg tcttgaaaga ttcaggtatg
     4561 ttgcctttat ggtttccccc ttctacattt cttagactac atttagagaa ctgtggccgt
     4621 tatctggaag taaccatttg cactggagtt ctatgctctc gcacctttcc aaagttaaca
     4681 gattttgggg ttgtgttgtc acccaagaga ttgttgtttg ccatactttg tctgaaaaat
     4741 tcctttgtgt ttctattgac ttcaatgata gtaagaaaag tggttgttag ttatagatgt
     4801 ctaggtactt caggggcact tcattgagag ttttgtcttg gatattcttg aaagtttata
     4861 tttttataat tttttcttac atcagatgtt tctttgcagt ggcttaatgt ttgaaattat
     4921 tttgtggctt tttttgtaaa tattgaaatg tagcaataat gtcttttgaa tattcccaag
     4981 cccatgagtc cttgaaaata ttttttatat atacagtaac tttatgtgta aatacataag
     5041 cggcgtaagt ttaaaggatg ttggtgttcc acgtgtttta ttcctgtatg ttgtccaatt
     5101 gttgacagtt ctgaagaatt ctaataaaat gtacatatat aaatcaa
//
LOCUS       NM_000223               1880 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens keratin 12 (KRT12), mRNA.
ACCESSION   NM_000223
VERSION     NM_000223.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1880)
  AUTHORS   Nishino T, Kobayashi A, Mori N, Masaki T, Yokogawa H, Fujiki K,
            Yanagawa A, Murakami A and Sugiyama K.
  TITLE     In vivo histology and p.L132V mutation in KRT12 gene in Japanese
            patients with Meesmann corneal dystrophy
  JOURNAL   Jpn J Ophthalmol 63 (1), 46-55 (2019)
   PUBMED   30535821
  REMARK    GeneRIF: We identified a heterozygous genetic mutation (c.394 C>G,
            p.L132V) in the KRT12 gene in six Japanese patients with inherited
            Meesmann corneal dystrophy. This is the first study to confirm this
            genetic mutation in Japanese Meesmann corneal dystrophy patients.
            This mutation has been independently reported in an American
            Meesmann corneal dystrophy patient, confirming its pathogenicity.
REFERENCE   2  (bases 1 to 1880)
  AUTHORS   Latta L, Viestenz A, Stachon T, Colanesi S, Szentmary N, Seitz B and
            Kasmann-Kellner B.
  TITLE     Human aniridia limbal epithelial cells lack expression of keratins
            K3 and K12
  JOURNAL   Exp Eye Res 167, 100-109 (2018)
   PUBMED   29162348
  REMARK    GeneRIF: RT-PCR showed that K3 and K12 transcripts were absent from
            patient cells, but present in healthy control preparations.
REFERENCE   3  (bases 1 to 1880)
  AUTHORS   Du X, Chen P and Sun D.
  TITLE     Mutation analysis of TGFBI and KRT12 in a case of concomitant
            keratoconus and granular corneal dystrophy
  JOURNAL   Graefes Arch Clin Exp Ophthalmol 255 (9), 1779-1786 (2017)
   PUBMED   28567551
  REMARK    GeneRIF: KC can co-exist with GCD. The missense mutation (c.370G >
            A) in the TGFBI gene and insert mutation (c.1456-1457ins GAT) in the
            KRT12 gene were identified in a 23-year-old male patient with
            concurrent KC and GCD.
REFERENCE   4  (bases 1 to 1880)
  AUTHORS   Allen EH, Courtney DG, Atkinson SD, Moore JE, Mairs L, Poulsen ET,
            Schiroli D, Maurizi E, Cole C, Hickerson RP, James J, Murgatroyd H,
            Smith FJ, MacEwen C, Enghild JJ, Nesbit MA, Leslie Pedrioli DM,
            McLean WH and Moore CB.
  TITLE     Keratin 12 missense mutation induces the unfolded protein response
            and apoptosis in Meesmann epithelial corneal dystrophy
  JOURNAL   Hum Mol Genet 25 (6), 1176-1191 (2016)
   PUBMED   26758872
REFERENCE   5  (bases 1 to 1880)
  AUTHORS   Sasamoto Y, Hayashi R, Park SJ, Saito-Adachi M, Suzuki Y, Kawasaki
            S, Quantock AJ, Nakai K, Tsujikawa M and Nishida K.
  TITLE     PAX6 Isoforms, along with Reprogramming Factors, Differentially
            Regulate the Induction of Cornea-specific Genes
  JOURNAL   Sci Rep 6, 20807 (2016)
   PUBMED   26899008
  REMARK    GeneRIF: we show that the two PAX6 isoforms differentially and
            cooperatively regulate the expression of genes specific to the
            structure and functions of the corneal epithelium, particularly
            keratin 3 (KRT3) and keratin 12 (KRT12). PAX6 isoform-a induced KRT3
            expression by targeting its upstream region. KLF4 enhanced this
            induction. A combination of PAX6 isoform-b, KLF4, and OCT4 induced
            KRT12 expression Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1880)
  AUTHORS   Corden LD, Swensson O, Swensson B, Rochels R, Wannke B, Thiel HJ and
            McLean WH.
  TITLE     A novel keratin 12 mutation in a German kindred with Meesmann's
            corneal dystrophy
  JOURNAL   Br J Ophthalmol 84 (5), 527-530 (2000)
   PUBMED   10781519
REFERENCE   7  (bases 1 to 1880)
  AUTHORS   Corden LD, Swensson O, Swensson B, Smith FJ, Rochels R, Uitto J and
            McLEAN WH.
  TITLE     Molecular genetics of Meesmann's corneal dystrophy: ancestral and
            novel mutations in keratin 12 (K12) and complete sequence of the
            human KRT12 gene
  JOURNAL   Exp Eye Res 70 (1), 41-49 (2000)
   PUBMED   10644419
REFERENCE   8  (bases 1 to 1880)
  AUTHORS   Nishida K, Honma Y, Dota A, Kawasaki S, Adachi W, Nakamura T,
            Quantock AJ, Hosotani H, Yamamoto S, Okada M, Shimomura Y and
            Kinoshita S.
  TITLE     Isolation and chromosomal localization of a cornea-specific human
            keratin 12 gene and detection of four mutations in Meesmann corneal
            epithelial dystrophy
  JOURNAL   Am J Hum Genet 61 (6), 1268-1275 (1997)
   PUBMED   9399908
REFERENCE   9  (bases 1 to 1880)
  AUTHORS   Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG,
            Smith FJ, Knowlton RG, Christophers E, Rochels R, Uitto J and McLean
            WH.
  TITLE     Mutations in cornea-specific keratin K3 or K12 genes cause
            Meesmann's corneal dystrophy
  JOURNAL   Nat Genet 16 (2), 184-187 (1997)
   PUBMED   9171831
REFERENCE   10  (bases 1 to 1880)
  AUTHORS   Nishida K, Adachi W, Shimizu-Matsumoto A, Kinoshita S, Mizuno K,
            Matsubara K and Okubo K.
  TITLE     A gene expression profile of human corneal epithelium and the
            isolation of human keratin 12 cDNA
  JOURNAL   Invest Ophthalmol Vis Sci 37 (9), 1800-1809 (1996)
   PUBMED   8759347
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: D78367.1, AK313747.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968540
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000251643.5/ ENSP00000251643.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313747.1, D78367.1 and
            CV573989.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 9, 2019 this sequence version replaced NM_000223.3.
            Summary: KRT12 encodes the type I intermediate filament chain
            keratin 12, expressed in corneal epithelia. Mutations in this gene
            lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1880
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..1880
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="keratin 12"
                     /db_xref="GeneID:3859"
                     /db_xref="HGNC:HGNC:6414"
                     /db_xref="MIM:601687"
     CDS             38..1522
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="CK-12; cytokeratin-12; keratin 12, type I"
                     /codon_start=1
                     /product="keratin, type I cytoskeletal 12"
                     /protein_id="NP_000214.1"
                     /db_xref="CCDS:CCDS11378.1"
                     /db_xref="GeneID:3859"
                     /db_xref="HGNC:HGNC:6414"
                     /db_xref="MIM:601687"
                     /translation="MDLSNNTMSLSVRTPGLSRRLSSQSVIGRPRGMSASSVGSGYGGS
                     AFGFGASCGGGFSAASMFGSSSGFGGGSGSSMAGGLGAGYGRALGGGSFGGLGMGFGGS
                     PGGGSLGILSGNDGGLLSGSEKETMQNLNDRLASYLDKVRALEEANTELENKIREWYET
                     RGTGTADASQSDYSKYYPLIEDLRNKIISASIGNAQLLLQIDNARLAAEDFRMKYENEL
                     ALRQGVEADINGLRRVLDELTLTRTDLEMQIESLNEELAYMKKNHEDELQSFRVGGPGE
                     VSVEMDAAPGVDLTRLLNDMRAQYETIAEQNRKDAEAWFIEKSGELRKEISTNTEQLQS
                     SKSEVTDLRRAFQNLEIELQSQLAMKKSLEDSLAEAEGDYCAQLSQVQQLISNLEAQLL
                     QVRADAERQNVDHQRLLNVKARLELEIETYRRLLDGEAQGDGLEESLFVTDSKSQAQST
                     DSSKDPTKTRKIKTVVQEMVNGEVVSSQVQEIEELM"
     misc_feature    38..409
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99456.1);
                     Region: Head"
     misc_feature    38..133
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99456.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    410..517
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99456.1);
                     Region: Coil 1A"
     misc_feature    527..583
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99456.1);
                     Region: Linker 1"
     misc_feature    584..859
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99456.1);
                     Region: Coil 1B"
     misc_feature    860..928
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99456.1);
                     Region: Linker 12"
     misc_feature    929..1342
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99456.1);
                     Region: Coil 2"
     misc_feature    1343..1519
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99456.1);
                     Region: Tail"
     misc_feature    1373..1441
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99456.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1862..1867
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="hexamer: AATAAA"
     polyA_site      1880
                     /gene="KRT12"
                     /gene_synonym="K12; MECD1"
                     /note="major polyA site"
ORIGIN
        1 caacttcctc tccagttgtg gccaccttcc ccaggccatg gatctctcca acaacaccat
       61 gtcactctca gtgcgcaccc ccggactgtc ccggcggctc tcctcgcaga gtgtgatagg
      121 cagacccagg ggcatgtctg cttccagtgt tggaagtggt tatgggggaa gtgcctttgg
      181 ctttggagcc agctgtgggg gaggcttttc tgctgcttcc atgtttggtt ctagttccgg
      241 ctttgggggt ggctccggaa gttccatggc aggaggactg ggtgctggtt atgggagagc
      301 cctgggtgga ggtagctttg gagggctggg gatgggattt gggggcagcc caggaggtgg
      361 ctctctaggt attctctcgg gcaatgatgg aggccttctt tctggatcag aaaaagaaac
      421 tatgcaaaat cttaatgata gattagcttc ctacctggat aaggtgcgag ctctagaaga
      481 ggctaatact gagctagaaa ataaaattcg agaatggtat gaaacacgag gaactgggac
      541 tgcagatgct tcacagagcg attacagcaa atattatcca ctgattgaag acctcaggaa
      601 taagatcatt tcagccagca ttggaaatgc ccagctcctc ttgcagattg acaatgcgag
      661 actagctgct gaggacttca ggatgaagta tgagaatgaa ctggccctgc gccagggcgt
      721 agaggccgac atcaatggcc tgcgccgggt gctggacgag ctgaccctga ccaggaccga
      781 cctggagatg cagatcgaga gcctgaacga ggagctggcc tacatgaaga agaaccacga
      841 ggatgagctc caaagcttcc gggtgggcgg cccaggcgag gtcagcgtag aaatggacgc
      901 tgcccccgga gtggacctca ccaggctcct caatgatatg cgggcgcagt atgaaaccat
      961 cgctgagcag aatcggaagg acgctgaagc ctggttcatt gaaaagagcg gggagctccg
     1021 taaggagatt agcaccaaca ccgagcagct tcagtccagc aagagcgagg tcaccgacct
     1081 gcgtcgcgcc tttcagaacc tggagatcga gctacagtcc cagctcgcca tgaagaaatc
     1141 cctggaggac tccttggccg aagccgaggg cgattactgc gcgcagctgt cccaggtgca
     1201 gcagctcatc agcaacctgg aggcacagct gctccaggtg cgcgcggacg cagagcgcca
     1261 gaacgtggac caccagcggc tgctgaatgt caaggcccgc ctggagctgg agattgagac
     1321 ctaccgccgc ctgctggacg gggaggccca aggtgatggt ttggaggaaa gtttatttgt
     1381 gacagactcc aaatcacaag cacagtcaac tgattcctct aaagacccaa ccaaaacccg
     1441 aaaaatcaag acagttgtgc aggagatggt gaatggtgag gtggtctcat ctcaagttca
     1501 ggaaattgaa gaactaatgt aaaatttcac aagatctgcc ccatgattgg ttccttagga
     1561 acaagaaatt tacaagtaga aattattcct ttcagagtaa catgctgtat tacttcaatc
     1621 cctatttttg tctgttccat tttctttgga ttccctattc acattgaatc ctttttgccc
     1681 ttctgaaaca atattcagtc acaagtcatt ttggtcatgt tggtctttgt aacaaatcaa
     1741 aattacctta tatccttctg gacctggagt agtcttttaa cgaactttct tctggtaacc
     1801 cggaatattt tttaatcata gagctttaat caagtagtat tgttttaata gagttaattg
     1861 taataaaaga tgaatggtaa
//
LOCUS       NM_000224               1413 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens keratin 18 (KRT18), transcript variant 1, mRNA.
ACCESSION   NM_000224
VERSION     NM_000224.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1413)
  AUTHORS   Pagano S, Bakker SJL, Juillard C, Dullaart RPF and Vuilleumier N.
  TITLE     Serum Level of Cytokeratin 18 (M65) as a Prognostic Marker of High
            Cardiovascular Disease Risk in Individuals with Non-Alcoholic Fatty
            Liver Disease
  JOURNAL   Biomolecules 13 (7), 1128 (2023)
   PUBMED   37509164
  REMARK    GeneRIF: Serum Level of Cytokeratin 18 (M65) as a Prognostic Marker
            of High Cardiovascular Disease Risk in Individuals with
            Non-Alcoholic Fatty Liver Disease. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1413)
  AUTHORS   Heinrich S, Austgen T, Castven D, Hess M, Labenz C, Kirstein M,
            Zimpel C, Stockhoff L, Maasoumy B, Heinrich B, Wedemeyer HH, Galle
            PR, Binder H, Nguyen-Tat M and Marquardt JU.
  TITLE     Markers of cell death predict therapy response in patients with
            cirrhosis and hepatorenal syndrome
  JOURNAL   United European Gastroenterol J 11 (1), 92-102 (2023)
   PUBMED   36441143
  REMARK    GeneRIF: Markers of cell death predict therapy response in patients
            with cirrhosis and hepatorenal syndrome.
REFERENCE   3  (bases 1 to 1413)
  AUTHORS   Singh Bhangu J, Macher-Beer A, Schimek V, Garmroudi B, Tamandl D,
            Unger LW, Bachleitner-Hofmann T and Oehler R.
  TITLE     Circulating caspase-cleaved cytokeratin 18 correlates with tumour
            burden and response to therapy in patients with colorectal cancer
            liver metastasis
  JOURNAL   Clin Chim Acta 538, 53-59 (2023)
   PUBMED   36375525
  REMARK    GeneRIF: Circulating caspase-cleaved cytokeratin 18 correlates with
            tumour burden and response to therapy in patients with colorectal
            cancer liver metastasis.
REFERENCE   4  (bases 1 to 1413)
  AUTHORS   Eguchi A, Iwasa M, Yamada M, Tamai Y, Shigefuku R, Hasegawa H,
            Hirokawa Y, Hayashi A, Okuno K, Matsushita Y, Nakatsuka T, Enooku K,
            Sakaguchi K, Kobayashi Y, Yamaguchi T, Watanabe M, Takei Y and
            Nakagawa H.
  TITLE     A new detection system for serum fragmented cytokeratin 18 as a
            biomarker reflecting histologic activities of human nonalcoholic
            steatohepatitis
  JOURNAL   Hepatol Commun 6 (8), 1987-1999 (2022)
   PUBMED   35485207
  REMARK    GeneRIF: A new detection system for serum fragmented cytokeratin 18
            as a biomarker reflecting histologic activities of human
            nonalcoholic steatohepatitis.
REFERENCE   5  (bases 1 to 1413)
  AUTHORS   Gao Z, Long Y, Wu Y, Pu Y and Xue F.
  TITLE     LncRNA LINC02253 activates KRT18/MAPK/ERK pathway by mediating
            N6-methyladenosine modification of KRT18 mRNA in gastric cancer
  JOURNAL   Carcinogenesis 43 (5), 419-429 (2022)
   PUBMED   35136989
  REMARK    GeneRIF: LncRNA LINC02253 activates KRT18/MAPK/ERK pathway by
            mediating N6-methyladenosine modification of KRT18 mRNA in gastric
            cancer.
REFERENCE   6  (bases 1 to 1413)
  AUTHORS   Omary MB, Baxter GT, Chou CF, Riopel CL, Lin WY and Strulovici B.
  TITLE     PKC epsilon-related kinase associates with and phosphorylates
            cytokeratin 8 and 18
  JOURNAL   J Cell Biol 117 (3), 583-593 (1992)
   PUBMED   1374067
REFERENCE   7  (bases 1 to 1413)
  AUTHORS   Heath P, Elvin P, Jenner D, Gammack A, Morten J and Markham A.
  TITLE     Localisation of a cDNA clone for human cytokeratin 18 to chromosome
            17p11-p12 by in situ hybridisation
  JOURNAL   Hum Genet 85 (6), 669-670 (1990)
   PUBMED   1699878
REFERENCE   8  (bases 1 to 1413)
  AUTHORS   Waseem A, Gough AC, Spurr NK and Lane EB.
  TITLE     Localization of the gene for human simple epithelial keratin 18 to
            chromosome 12 using polymerase chain reaction
  JOURNAL   Genomics 7 (2), 188-194 (1990)
   PUBMED   1693358
REFERENCE   9  (bases 1 to 1413)
  AUTHORS   Waseem A, Alexander CM, Steel JB and Lane EB.
  TITLE     Embryonic simple epithelial keratins 8 and 18: chromosomal location
            emphasizes difference from other keratin pairs
  JOURNAL   New Biol 2 (5), 464-478 (1990)
   PUBMED   1705144
REFERENCE   10  (bases 1 to 1413)
  AUTHORS   Romano,V., Hatzfeld,M., Magin,T.M., Zimbelmann,R., Franke,W.W.,
            Maier,G. and Ponstingl,H.
  TITLE     Cytokeratin expression in simple epithelia. I. Identification of
            mRNA coding for human cytokeratin no. 18 by a cDNA clone
  JOURNAL   Differentiation 30 (3), 244-253 (1986)
   PUBMED   2422083
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.34370.1,
            SRR3476690.69100.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000388835.4/ ENSP00000373487.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD106591.1, X12881.1 and
            AC107016.20.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000224.2.
            Summary: KRT18 encodes the type I intermediate filament chain
            keratin 18. Keratin 18, together with its filament partner keratin
            8, are perhaps the most commonly found members of the intermediate
            filament gene family. They are expressed in single layer epithelial
            tissues of the body. Mutations in this gene have been linked to
            cryptogenic cirrhosis. Two transcript variants encoding the same
            protein have been found for this gene. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 both encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1413
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..1413
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="keratin 18"
                     /db_xref="GeneID:3875"
                     /db_xref="HGNC:HGNC:6430"
                     /db_xref="MIM:148070"
     CDS             57..1349
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="cytokeratin 18; cell proliferation-inducing gene 46
                     protein; keratin 18, type I"
                     /codon_start=1
                     /product="keratin, type I cytoskeletal 18"
                     /protein_id="NP_000215.1"
                     /db_xref="CCDS:CCDS31809.1"
                     /db_xref="GeneID:3875"
                     /db_xref="HGNC:HGNC:6430"
                     /db_xref="MIM:148070"
                     /translation="MSFTTRSTFSTNYRSLGSVQAPSYGARPVSSAASVYAGAGGSGSR
                     ISVSRSTSFRGGMGSGGLATGIAGGLAGMGGIQNEKETMQSLNDRLASYLDRVRSLETE
                     NRRLESKIREHLEKKGPQVRDWSHYFKIIEDLRAQIFANTVDNARIVLQIDNARLAADD
                     FRVKYETELAMRQSVENDIHGLRKVIDDTNITRLQLETEIEALKEELLFMKKNHEEEVK
                     GLQAQIASSGLTVEVDAPKSQDLAKIMADIRAQYDELARKNREELDKYWSQQIEESTTV
                     VTTQSAEVGAAETTLTELRRTVQSLEIDLDSMRNLKASLENSLREVEARYALQMEQLNG
                     ILLHLESELAQTRAEGQRQAQEYEALLNIKVKLEAEIATYRRLLEDGEDFNLGDALDSS
                     NSMQTIQKTTTRRIVDGKVVSETNDTKVLRH"
     misc_feature    60..293
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2);
                     Region: Head"
     misc_feature    60..62
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:7538124; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); acetylation site"
     misc_feature    75..77
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    84..86
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    99..101
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17924679,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    108..110
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    144..146
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="O-linked (GlcNAc) serine, alternate.
                     /evidence=ECO:0000269|PubMed:20729549,
                     ECO:0000269|PubMed:7538124. /id=CAR_000175; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); glycosylation site"
     misc_feature    144..146
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P05784; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    147..149
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="O-linked (GlcNAc) serine, alternate.
                     /evidence=ECO:0000269|PubMed:20729549,
                     ECO:0000269|PubMed:7538124. /id=CAR_000193; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); glycosylation site"
     misc_feature    147..149
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P05784; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    156..158
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:15368451,
                     ECO:0000269|PubMed:9524113, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P05783.2);
                     phosphorylation site"
     misc_feature    162..164
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P05784; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    180..182
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    189..191
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); methylation site"
     misc_feature    201..203
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="O-linked (GlcNAc) serine, alternate.
                     /evidence=ECO:0000269|PubMed:20729549,
                     ECO:0000269|PubMed:7538124. /id=CAR_000194; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); glycosylation site"
     misc_feature    201..203
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine, alternate.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    207..209
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine, by MAPKAPK2 and MAPKAPK3.
                     /evidence=ECO:0000250|UniProtKB:P05784; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    210..212
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    213..215
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine, by CAMK, PKC/PRKCE and AURKA.
                     /evidence=ECO:0000269|PubMed:15368451,
                     ECO:0000269|PubMed:16424149, ECO:0000269|PubMed:7523419;
                     propagated from UniProtKB/Swiss-Prot (P05783.2);
                     phosphorylation site"
     misc_feature    219..221
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); methylation site"
     misc_feature    234..236
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    249..251
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    264..1175
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2);
                     Region: Necessary for interaction with PNN.
                     /evidence=ECO:0000269|PubMed:10809736"
     misc_feature    285..440
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2);
                     Region: Interaction with TRADD.
                     /evidence=ECO:0000269|PubMed:11684708"
     misc_feature    294..401
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2);
                     Region: Coil 1A"
     misc_feature    333..335
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    354..356
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    402..452
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2);
                     Region: Linker 1"
     misc_feature    447..449
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); acetylation site"
     misc_feature    453..728
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2);
                     Region: Coil 1B"
     misc_feature    585..587
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    729..800
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2);
                     Region: Linker 12"
     misc_feature    768..773
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Cleavage, by caspase-3, caspase-6 or caspase-7;
                     propagated from UniProtKB/Swiss-Prot (P05783.2); cleavage
                     site"
     misc_feature    783..1229
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2);
                     Region: Interaction with DNAJB6.
                     /evidence=ECO:0000269|PubMed:10954706"
     misc_feature    801..1217
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2);
                     Region: Coil 2"
     misc_feature    867..869
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Stutter; propagated from UniProtKB/Swiss-Prot
                     (P05783.2); other site"
     misc_feature    960..962
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    969..971
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    1011..1013
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    1023..1025
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    1047..1049
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Stutter; propagated from UniProtKB/Swiss-Prot
                     (P05783.2); other site"
     misc_feature    1218..1346
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="propagated from UniProtKB/Swiss-Prot (P05783.2);
                     Region: Tail"
     misc_feature    1248..1250
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    1251..1253
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    1257..1259
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    1266..1268
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); phosphorylation site"
     misc_feature    1332..1334
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P05783.2); acetylation site"
     regulatory      1389..1394
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="hexamer: AATAAA"
     polyA_site      1413
                     /gene="KRT18"
                     /gene_synonym="CK-18; CYK18; K18"
                     /note="major polyA site"
ORIGIN
        1 gccgccaccg tcgtccgcaa agcctgagtc ctgtcctttc tctctccccg gacagcatga
       61 gcttcaccac tcgctccacc ttctccacca actaccggtc cctgggctct gtccaggcgc
      121 ccagctacgg cgcccggccg gtcagcagcg cggccagcgt ctatgcaggc gctgggggct
      181 ctggttcccg gatctccgtg tcccgctcca ccagcttcag gggcggcatg gggtccgggg
      241 gcctggccac cgggatagcc gggggtctgg caggaatggg aggcatccag aacgagaagg
      301 agaccatgca aagcctgaac gaccgcctgg cctcttacct ggacagagtg aggagcctgg
      361 agaccgagaa ccggaggctg gagagcaaaa tccgggagca cttggagaag aagggacccc
      421 aggtcagaga ctggagccat tacttcaaga tcatcgagga cctgagggct cagatcttcg
      481 caaatactgt ggacaatgcc cgcatcgttc tgcagattga caatgcccgt cttgctgctg
      541 atgactttag agtcaagtat gagacagagc tggccatgcg ccagtctgtg gagaacgaca
      601 tccatgggct ccgcaaggtc attgatgaca ccaatatcac acgactgcag ctggagacag
      661 agatcgaggc tctcaaggag gagctgctct tcatgaagaa gaaccacgaa gaggaagtaa
      721 aaggcctaca agcccagatt gccagctctg ggttgaccgt ggaggtagat gcccccaaat
      781 ctcaggacct cgccaagatc atggcagaca tccgggccca atatgacgag ctggctcgga
      841 agaaccgaga ggagctagac aagtactggt ctcagcagat tgaggagagc accacagtgg
      901 tcaccacaca gtctgctgag gttggagctg ctgagacgac gctcacagag ctgagacgta
      961 cagtccagtc cttggagatc gacctggact ccatgagaaa tctgaaggcc agcttggaga
     1021 acagcctgag ggaggtggag gcccgctacg ccctacagat ggagcagctc aacgggatcc
     1081 tgctgcacct tgagtcagag ctggcacaga cccgggcaga gggacagcgc caggcccagg
     1141 agtatgaggc cctgctgaac atcaaggtca agctggaggc tgagatcgcc acctaccgcc
     1201 gcctgctgga agatggcgag gactttaatc ttggtgatgc cttggacagc agcaactcca
     1261 tgcaaaccat ccaaaagacc accacccgcc ggatagtgga tggcaaagtg gtgtctgaga
     1321 ccaatgacac caaagttctg aggcattaag ccagcagaag cagggtaccc tttggggagc
     1381 aggaggccaa taaaaagttc agagttcatt gga
//
LOCUS       NM_000226               2296 bp    mRNA    linear   PRI 12-JUN-2023
DEFINITION  Homo sapiens keratin 9 (KRT9), mRNA.
ACCESSION   NM_000226
VERSION     NM_000226.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2296)
  AUTHORS   Woods RSR, Callanan D, Jawad H, Molony P, Werner R, Heffron C,
            Feeley L and Sheahan P.
  TITLE     Cytokeratin 7 and 19 expression in oropharyngeal and oral squamous
            cell carcinoma
  JOURNAL   Eur Arch Otorhinolaryngol 279 (3), 1435-1443 (2022)
   PUBMED   34046748
  REMARK    GeneRIF: Cytokeratin 7 and 19 expression in oropharyngeal and oral
            squamous cell carcinoma.
REFERENCE   2  (bases 1 to 2296)
  AUTHORS   Liu X, Qiu C, He R, Zhang Y and Zhao Y.
  TITLE     Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic
            palmoplantar keratoderma, cytokeratin analysis, and literature
            review
  JOURNAL   Mol Genet Genomic Med 7 (11), e977 (2019)
   PUBMED   31525823
  REMARK    GeneRIF: KRT9 L164P mutation is associated with epidermolytic
            palmoplantar keratoderma. Review article
REFERENCE   3  (bases 1 to 2296)
  AUTHORS   Zhou R, Wang G, Kim D, Kim S, Islam N, Chen R, Wang Z, Li A,
            McCarthy EF, Li L, Hu Z and Garza LA.
  TITLE     dsRNA Sensing Induces Loss of Cell Identity
  JOURNAL   J Invest Dermatol 139 (1), 91-99 (2019)
   PUBMED   30120933
  REMARK    GeneRIF: Exogenous dsRNA inhibits KRT9 expression in early passage
            volar keratinocytes or in vivo footpads of wild-type mice. Loss of
            DDX58 in passaged volar keratinocytes rescues KRT9 and inhibits KRT7
            expression.
REFERENCE   4  (bases 1 to 2296)
  AUTHORS   Andolino C, Hess C, Prince T, Williams H and Chernin M.
  TITLE     Drug-induced keratin 9 interaction with Hsp70 in bladder cancer
            cells
  JOURNAL   Cell Stress Chaperones 23 (5), 1137-1142 (2018)
   PUBMED   29802537
  REMARK    GeneRIF: keratin 9 is an Hsp70 client protein and is expressed in
            human bladder cancer cells.
REFERENCE   5  (bases 1 to 2296)
  AUTHORS   Xiao H, Guo Y, Yi J, Xia H, Xu H, Yuan L, Hu P, Yang Z, He Z, Lu H
            and Deng H.
  TITLE     Identification of a Novel Keratin 9 Missense Mutation in a Chinese
            Family with Epidermolytic Palmoplantar Keratoderma
  JOURNAL   Cell Physiol Biochem 46 (5), 1919-1929 (2018)
   PUBMED   29719290
  REMARK    GeneRIF: A novel heterozygous c.1369C>T transition (p.Leu457Phe) in
            exon 6 of the KRT9 gene was identified in four patients in a Chinese
            Family with Epidermolytic Palmoplantar Keratoderma.
REFERENCE   6  (bases 1 to 2296)
  AUTHORS   Torchard D, Blanchet-Bardon C, Serova O, Langbein L, Narod S, Janin
            N, Goguel AF, Bernheim A, Franke WW, Lenoir GM et al.
  TITLE     Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9
            mutation in a pedigree with breast and ovarian cancer
  JOURNAL   Nat Genet 6 (1), 106-110 (1994)
   PUBMED   7511021
REFERENCE   7  (bases 1 to 2296)
  AUTHORS   Langbein L, Heid HW, Moll I and Franke WW.
  TITLE     Molecular characterization of the body site-specific human epidermal
            cytokeratin 9: cDNA cloning, amino acid sequence, and tissue
            specificity of gene expression
  JOURNAL   Differentiation 55 (1), 57-71 (1993)
   PUBMED   7507869
  REMARK    Erratum:[Differentiation. 1994 Jan;55(2):164. PMID: 7511549]
REFERENCE   8  (bases 1 to 2296)
  AUTHORS   Rogaev EI, Rogaeva EA, Ginter EK, Korovaitseva GI, Farrer LA,
            Shlensky AB, Pritkov AN, Mordovtsev VN and St George-Hyslop PH.
  TITLE     Identification of the genetic locus for keratosis palmaris et
            plantaris on chromosome 17 near the RARA and keratin type I genes
  JOURNAL   Nat Genet 5 (2), 158-162 (1993)
   PUBMED   7504553
REFERENCE   9  (bases 1 to 2296)
  AUTHORS   Reis A, Kuster W, Eckardt R and Sperling K.
  TITLE     Mapping of a gene for epidermolytic palmoplantar keratoderma to the
            region of the acidic keratin gene cluster at 17q12-q21
  JOURNAL   Hum Genet 90 (1-2), 113-116 (1992)
   PUBMED   1385292
REFERENCE   10  (bases 1 to 2296)
  AUTHORS   Rosen EM, Meromsky L, Romero R, Setter E and Goldberg I.
  TITLE     Human placenta contains an epithelial scatter protein
  JOURNAL   Biochem Biophys Res Commun 168 (3), 1082-1088 (1990)
   PUBMED   2140676
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: S69510.1, Z29074.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2147596,
            SAMEA2163623 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000246662.9/ ENSP00000246662.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC019349.28 and Z29074.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000226.3.
            Summary: This gene encodes the type I keratin 9, an intermediate
            filament chain expressed only in the terminally differentiated
            epidermis of palms and soles. Mutations in this gene cause
            epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul
            2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2296
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..2296
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="keratin 9"
                     /db_xref="GeneID:3857"
                     /db_xref="HGNC:HGNC:6447"
                     /db_xref="MIM:607606"
     misc_feature    50..52
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="upstream in-frame stop codon"
     CDS             68..1939
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="cytokeratin 9; keratin 9, type I; type I
                     cytoskeletal 9"
                     /codon_start=1
                     /product="keratin, type I cytoskeletal 9"
                     /protein_id="NP_000217.2"
                     /db_xref="CCDS:CCDS32654.1"
                     /db_xref="GeneID:3857"
                     /db_xref="HGNC:HGNC:6447"
                     /db_xref="MIM:607606"
                     /translation="MSCRQFSSSYLSRSGGGGGGGLGSGGSIRSSYSRFSSSGGGGGGG
                     RFSSSSGYGGGSSRVCGRGGGGSFGYSYGGGSGGGFSASSLGGGFGGGSRGFGGASGGG
                     YSSSGGFGGGFGGGSGGGFGGGYGSGFGGFGGFGGGAGGGDGGILTANEKSTMQELNSR
                     LASYLDKVQALEEANNDLENKIQDWYDKKGPAAIQKNYSPYYNTIDDLKDQIVDLTVGN
                     NKTLLDIDNTRMTLDDFRIKFEMEQNLRQGVDADINGLRQVLDNLTMEKSDLEMQYETL
                     QEELMALKKNHKEEMSQLTGQNSGDVNVEINVAPGKDLTKTLNDMRQEYEQLIAKNRKD
                     IENQYETQITQIEHEVSSSGQEVQSSAKEVTQLRHGVQELEIELQSQLSKKAALEKSLE
                     DTKNRYCGQLQMIQEQISNLEAQITDVRQEIECQNQEYSLLLSIKMRLEKEIETYHNLL
                     EGGQEDFESSGAGKIGLGGRGGSGGSYGRGSRGGSGGSYGGGGSGGGYGGGSGSRGGSG
                     GSYGGGSGSGGGSGGGYGGGSGGGHSGGSGGGHSGGSGGNYGGGSGSGGGSGGGYGGGS
                     GSRGGSGGSHGGGSGFGGESGGSYGGGEEASGSGGGYGGGSGKSSHS"
     misc_feature    68..523
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="propagated from UniProtKB/Swiss-Prot (P35527.3);
                     Region: Head"
     misc_feature    68..142
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="propagated from UniProtKB/Swiss-Prot (P35527.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    107..109
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P13645; propagated from
                     UniProtKB/Swiss-Prot (P35527.3); phosphorylation site"
     misc_feature    236..238
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P13645; propagated from
                     UniProtKB/Swiss-Prot (P35527.3); phosphorylation site"
     misc_feature    524..631
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="propagated from UniProtKB/Swiss-Prot (P35527.3);
                     Region: Coil 1A"
     misc_feature    632..688
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="propagated from UniProtKB/Swiss-Prot (P35527.3);
                     Region: Linker 1"
     misc_feature    689..964
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="propagated from UniProtKB/Swiss-Prot (P35527.3);
                     Region: Coil 1B"
     misc_feature    965..1033
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="propagated from UniProtKB/Swiss-Prot (P35527.3);
                     Region: Linker 12"
     misc_feature    1034..1450
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="propagated from UniProtKB/Swiss-Prot (P35527.3);
                     Region: Coil 2"
     misc_feature    1451..1936
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="propagated from UniProtKB/Swiss-Prot (P35527.3);
                     Region: Tail"
     misc_feature    1451..1555
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="propagated from UniProtKB/Swiss-Prot (P35527.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1667..1936
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="propagated from UniProtKB/Swiss-Prot (P35527.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2270..2275
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="hexamer: AATAAA"
     polyA_site      2296
                     /gene="KRT9"
                     /gene_synonym="CK-9; EPPK; EPPK1; K9"
                     /note="major polyA site"
ORIGIN
        1 accctgcact tgggagccgg tagcactcct atcactgctt ctcaacccgt gagctaccag
       61 ctgtgtcatg agctgcagac agttctcctc gtcctacttg agccgcagcg gcgggggtgg
      121 cgggggcggc ctgggcagcg ggggcagcat aaggtcttcc tacagccgct tcagctcctc
      181 agggggcggt ggaggagggg gccgattcag ctcttctagt ggctatggtg ggggaagctc
      241 tcgtgtctgt gggaggggag gcggtggcag ttttggctac agctacggcg gaggatctgg
      301 gggtggtttt agtgccagta gtttaggcgg tggctttggg ggtggttcca gaggttttgg
      361 tggtgcttct ggaggaggct atagtagttc tgggggtttt ggaggtggct ttggtggtgg
      421 ttctggaggt ggctttggtg gtggctatgg gagtgggttt ggggggtttg ggggctttgg
      481 aggtggtgct ggaggaggtg atggtggtat tctgactgct aatgagaaga gcaccatgca
      541 ggaactcaat tctcggctgg cctcttactt ggataaggtg caggctctag aggaggccaa
      601 caacgacctg gagaataaga tccaggattg gtacgacaag aagggacctg ctgctatcca
      661 gaagaactac tccccttatt ataacactat tgatgatctc aaggaccaga ttgtggacct
      721 gacagtgggc aacaacaaaa ctctcctgga cattgacaac actcgcatga cactggatga
      781 cttcaggata aagtttgaga tggagcaaaa cctgcggcaa ggagtggatg ctgacatcaa
      841 tggcctgcgg caggtgctgg acaatctgac catggagaag tctgacctgg agatgcagta
      901 tgagactctg caggaggagc tgatggccct caagaagaat cataaggagg agatgagtca
      961 gctgactggg cagaacagtg gagatgtcaa tgtggagata aacgttgctc ctggcaaaga
     1021 tctcaccaag accctcaatg acatgcgtca ggagtatgag cagctcattg ctaagaacag
     1081 aaaggacatc gagaatcaat atgagactca gataacccag atcgagcatg aggtatccag
     1141 tagtggtcag gaggtgcagt ccagtgccaa ggaggtgacc cagctccggc acggtgtcca
     1201 ggagttggag attgagctgc agtctcagct cagcaagaaa gcagctctgg agaagagctt
     1261 ggaagacacg aagaaccgct actgtggcca gctgcagatg atccaggagc agatcagtaa
     1321 cttggaggcc cagatcactg acgtccggca agagatcgag tgccagaatc aggaatacag
     1381 ccttctgctc agcattaaga tgcggctgga gaaggaaatc gagacctacc acaacctcct
     1441 tgagggaggc caggaagact ttgaatcctc cggagctgga aaaattggcc ttggaggtcg
     1501 aggaggaagt ggaggcagtt atggaagagg atccagggga ggaagtggag gcagctatgg
     1561 tggaggagga agtggaggtg gctatggtgg aggaagtggg tccaggggag gaagtggagg
     1621 cagctacggt ggaggaagtg gttctggagg aggtagtgga ggtggctatg gtggaggaag
     1681 tggaggtggc catagcggag gaagtggagg tggtcatagt ggaggaagtg ggggcaacta
     1741 tggaggagga agtggctctg gaggaggaag tgggggtggc tatggtggag gaagtgggtc
     1801 caggggagga agtggaggca gccatggtgg aggaagtggt tttggaggtg aaagtggagg
     1861 cagctacgga ggcggtgaag aagcgagtgg aagtggtggc ggctacggag gaggaagcgg
     1921 aaaatcatcc cattcctagt cttcttcctc aaaatctggt gaccaagatg agacaaaagg
     1981 cttcctttcg cgatactaga gcctctgtaa acttctcctg cccagcccca gctgagcatc
     2041 cccagatggg cagactcccg atgaagcctg cttattggat cctgacatca ggaatagctg
     2101 gcaacaagcc cctgtgcccg tttgggactg aactgacttg gcatatgtgc ctctggcttt
     2161 ccattggctt ccaaccctgc ttggctttga tgccttcagg gttggggaga cagacctctt
     2221 tcctctctct ggcctggggt gctctcacac cctgcacgat cttgactata ataaagcttc
     2281 cctactgcaa atcaaa
//
LOCUS       NM_000227               5618 bp    mRNA    linear   PRI 18-MAR-2023
DEFINITION  Homo sapiens laminin subunit alpha 3 (LAMA3), transcript variant 2,
            mRNA.
ACCESSION   NM_000227
VERSION     NM_000227.6
KEYWORDS    RefSeq; MANE Plus Clinical.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5618)
  AUTHORS   Wang R, Sun L, Habulieti X, Liu J, Guo K, Yang X, Ma D and Zhang X.
  TITLE     Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5
            underlying epidermolysis bullosa in five Chinese families
  JOURNAL   Front Med 16 (5), 808-814 (2022)
   PUBMED   35314946
  REMARK    GeneRIF: Novel variants in LAMA3 and COL7A1 and recurrent variant in
            KRT5 underlying epidermolysis bullosa in five Chinese families.
REFERENCE   2  (bases 1 to 5618)
  AUTHORS   Hamill KJ, Langbein L, Jones JC and McLean WH.
  TITLE     Identification of a novel family of laminin N-terminal alternate
            splice isoforms: structural and functional characterization
  JOURNAL   J Biol Chem 284 (51), 35588-35596 (2009)
   PUBMED   19773554
  REMARK    GeneRIF: immunofluorescence analyses revealed a basement membrane
            staining in epithelial tissue for LaNt alpha3 and LaNt alpha3
            localized along the substratum-associated surface of cultured
            keratinocytes.
REFERENCE   3  (bases 1 to 5618)
  AUTHORS   Kariya Y, Yasuda C, Nakashima Y, Ishida K, Tsubota Y and Miyazaki K.
  TITLE     Characterization of laminin 5B and NH2-terminal proteolytic fragment
            of its alpha3B chain: promotion of cellular adhesion, migration, and
            proliferation
  JOURNAL   J Biol Chem 279 (23), 24774-24784 (2004)
   PUBMED   15044476
  REMARK    GeneRIF: Characterization of laminin 5B and NH2-terminal proteolytic
            fragment of its alpha3B chain
REFERENCE   4  (bases 1 to 5618)
  AUTHORS   McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM,
            Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T,
            Phillips R, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B,
            Darling J, Atherton DJ, Van Steensel MA, Munro CS, Smith FJ and
            McGrath JA.
  TITLE     An unusual N-terminal deletion of the laminin alpha3a isoform leads
            to the chronic granulation tissue disorder laryngo-onycho-cutaneous
            syndrome
  JOURNAL   Hum Mol Genet 12 (18), 2395-2409 (2003)
   PUBMED   12915477
  REMARK    Erratum:[Hum Mol Genet. 2004 Feb 1;13(3):365. Phillips Rodney J
            [corrected to Phillips Roderic J]]
REFERENCE   5  (bases 1 to 5618)
  AUTHORS   Doliana R, Bellina I, Bucciotti F, Mongiat M, Perris R and
            Colombatti A.
  TITLE     The human alpha3b is a 'full-sized' laminin chain variant with a
            more widespread tissue expression than the truncated alpha3a
  JOURNAL   FEBS Lett 417 (1), 65-70 (1997)
   PUBMED   9395076
REFERENCE   6  (bases 1 to 5618)
  AUTHORS   Vidal F, Baudoin C, Miquel C, Galliano MF, Christiano AM, Uitto J,
            Ortonne JP and Meneguzzi G.
  TITLE     Cloning of the laminin alpha 3 chain gene (LAMA3) and identification
            of a homozygous deletion in a patient with Herlitz junctional
            epidermolysis bullosa
  JOURNAL   Genomics 30 (2), 273-280 (1995)
   PUBMED   8586427
REFERENCE   7  (bases 1 to 5618)
  AUTHORS   Rousselle P, Golbik R, van der Rest M and Aumailley M.
  TITLE     Structural requirement for cell adhesion to kalinin (laminin-5)
  JOURNAL   J Biol Chem 270 (23), 13766-13770 (1995)
   PUBMED   7775432
REFERENCE   8  (bases 1 to 5618)
  AUTHORS   Kivirikko S, McGrath JA, Baudoin C, Aberdam D, Ciatti S, Dunnill MG,
            McMillan JR, Eady RA, Ortonne JP, Meneguzzi G et al.
  TITLE     A homozygous nonsense mutation in the alpha 3 chain gene of laminin
            5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa
  JOURNAL   Hum Mol Genet 4 (5), 959-962 (1995)
   PUBMED   7633458
REFERENCE   9  (bases 1 to 5618)
  AUTHORS   Ryan MC, Tizard R, VanDevanter DR and Carter WG.
  TITLE     Cloning of the LamA3 gene encoding the alpha 3 chain of the adhesive
            ligand epiligrin. Expression in wound repair
  JOURNAL   J Biol Chem 269 (36), 22779-22787 (1994)
   PUBMED   8077230
REFERENCE   10  (bases 1 to 5618)
  AUTHORS   Pfendner,E.G. and Lucky,A.W.
  TITLE     Junctional Epidermolysis Bullosa
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301304
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L34155.1, SRR11853562.16324.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000269217.11/ ENSP00000269217.5
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA862923.1, L34155.1,
            KF456351.1, AY327115.1, AC010754.10 and AA001432.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 20, 2020 this sequence version replaced NM_000227.5.
            Summary: The protein encoded by this gene belongs to the laminin
            family of secreted molecules. Laminins are heterotrimeric molecules
            that consist of alpha, beta, and gamma subunits that assemble
            through a coiled-coil domain. Laminins are essential for formation
            and function of the basement membrane and have additional functions
            in regulating cell migration and mechanical signal transduction.
            This gene encodes an alpha subunit and is responsive to several
            epithelial-mesenchymal regulators including keratinocyte growth
            factor, epidermal growth factor and insulin-like growth factor.
            Mutations in this gene have been identified as the cause of Herlitz
            type junctional epidermolysis bullosa and laryngoonychocutaneous
            syndrome. Alternative splicing and alternative promoter usage
            result in multiple transcript variants. [provided by RefSeq, Dec
            2014].
            Transcript Variant: This variant (2) has a distinct 5' UTR, lacks
            exons in the 5' coding region, and uses an alternate start codon
            compared to variant 1. The encoded isoform (2, also known as
            alpha3a) has a distinct and shorter N-terminus than isoform 1.
            Variants 2 and 4 encode 'a' isoforms.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5618
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q11.2"
     gene            1..5618
                     /gene="LAMA3"
                     /gene_synonym="BM600; E170; JEB2A; JEB2B; JEB2C; LAMNA;
                     LOCS"
                     /note="laminin subunit alpha 3"
                     /db_xref="GeneID:3909"
                     /db_xref="HGNC:HGNC:6483"
                     /db_xref="MIM:600805"
     CDS             26..5200
                     /gene="LAMA3"
                     /gene_synonym="BM600; E170; JEB2A; JEB2B; JEB2C; LAMNA;
                     LOCS"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; laminin-5 alpha 3 chain; epiligrin 170 kda subunit;
                     epiligrin alpha 3 subunit; nicein 150kD subunit; kalinin
                     165kD subunit; BM600 150kD subunit; laminin-5 subunit
                     alpha; laminin-6 subunit alpha; laminin-7 subunit alpha;
                     nicein subunit alpha; kalinin subunit alpha; laminin, alpha
                     3 (nicein (150kD), kalinin (165kD), BM600 (150kD),
                     epilegrin); laminin A3; laminin 5, alpha-3 subunit; LAM3,
                     alpha-3 subunit"
                     /codon_start=1
                     /product="laminin subunit alpha-3 isoform 2 precursor"
                     /protein_id="NP_000218.3"
                     /db_xref="CCDS:CCDS11880.1"
                     /db_xref="GeneID:3909"
                     /db_xref="HGNC:HGNC:6483"
                     /db_xref="MIM:600805"
                     /translation="MPPAVRRSACSMGWLWIFGAALGQCLGYSSQQQRVPFLQPPGQSQ
                     LQASYVEFRPSQGCSPGYYRDHKGLYTGRCVPCNCNGHSNQCQDGSGICVNCQHNTAGE
                     HCERCQEGYYGNAVHGSCRACPCPHTNSFATGCVVNGGDVRCSCKAGYTGTQCERCAPG
                     YFGNPQKFGGSCQPCSCNSNGQLGSCHPLTGDCINQEPKDSSPAEECDDCDSCVMTLLN
                     DLATMGEQLRLVKSQLQGLSASAGLLEQMRHMETQAKDLRNQLLNYRSAISNHGSKIEG
                     LERELTDLNQEFETLQEKAQVNSRKAQTLNNNVNRATQSAKELDVKIKNVIRNVHILLK
                     QISGTDGEGNNVPSGDFSREWAEAQRMMRELRNRNFGKHLREAEADKRESQLLLNRIRT
                     WQKTHQGENNGLANSIRDSLNEYEAKLSDLRARLQEAAAQAKQANGLNQENERALGAIQ
                     RQVKEINSLQSDFTKYLTTADSSLLQTNIALQLMEKSQKEYEKLAASLNEARQELSDKV
                     RELSRSAGKTSLVEEAEKHARSLQELAKQLEEIKRNASGDELVRCAVDAATAYENILNA
                     IKAAEDAANRAASASESALQTVIKEDLPRKAKTLSSNSDKLLNEAKMTQKKLKQEVSPA
                     LNNLQQTLNIVTVQKEVIDTNLTTLRDGLHGIQRGDIDAMISSAKSMVRKANDITDEVL
                     DGLNPIQTDVERIKDTYGRTQNEDFKKALTDADNSVNKLTNKLPDLWRKIESINQQLLP
                     LGNISDNMDRIRELIQQARDAASKVAVPMRFNGKSGVEVRLPNDLEDLKGYTSLSLFLQ
                     RPNSRENGGTENMFVMYLGNKDASRDYIGMAVVDGQLTCVYNLGDREAELQVDQILTKS
                     ETKEAVMDRVKFQRIYQFARLNYTKGATSSKPETPGVYDMDGRNSNTLLNLDPENVVFY
                     VGGYPPDFKLPSRLSFPPYKGCIELDDLNENVLSLYNFKKTFNLNTTEVEPCRRRKEES
                     DKNYFEGTGYARVPTQPHAPIPTFGQTIQTTVDRGLLFFAENGDRFISLNIEDGKLMVR
                     YKLNSELPKERGVGDAINNGRDHSIQIKIGKLQKRMWINVDVQNTIIDGEVFDFSTYYL
                     GGIPIAIRERFNISTPAFRGCMKNLKKTSGVVRLNDTVGVTKKCSEDWKLVRSASFSRG
                     GQLSFTDLGLPPTDHLQASFGFQTFQPSGILLDHQTWTRNLQVTLEDGYIELSTSDSGG
                     PIFKSPQTYMDGLLHYVSVISDNSGLRLLIDDQLLRNSKRLKHISSSRQSLRLGGSNFE
                     GCISNVFVQRLSLSPEVLDLTSNSLKRDVSLGGCSLNKPPFLMLLKGSTRFNKTKTFRI
                     NQLLQDTPVASPRSVKVWQDACSPLPKTQANHGALQFGDIPTSHLLFKLPQELLKPRSQ
                     FAVDMQTTSSRGLVFHTGTKNSFMALYLSKGRLVFALGTDGKKLRIKSKEKCNDGKWHT
                     VVFGHDGEKGRLVVDGLRAREGSLPGNSTISIRAPVYLGSPPSGKPKSLPTNSFVGCLK
                     NFQLDSKPLYTPSSSFGVSSCLGGPLEKGIYFSEEGGHVVLAHSVLLGPEFKLVFSIRP
                     RSLTGILIHIGSQPGKHLCVYLEAGKVTASMDSGAGGTSTSVTPKQSLCDGQWHSVAVT
                     IKQHILHLELDTDSSYTAGQIPFPPASTQEPLHLGGAPANLTTLRIPVWKSFFGCLRNI
                     HVNHIPVPVTEALEVQGPVSLNGCPDQ"
     sig_peptide     26..106
                     /gene="LAMA3"
                     /gene_synonym="BM600; E170; JEB2A; JEB2B; JEB2C; LAMNA;
                     LOCS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      5478..5483
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LAMA3"
                     /gene_synonym="BM600; E170; JEB2A; JEB2B; JEB2C; LAMNA;
                     LOCS"
                     /note="hexamer: ATTAAA"
     regulatory      5492..5497
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LAMA3"
                     /gene_synonym="BM600; E170; JEB2A; JEB2B; JEB2C; LAMNA;
                     LOCS"
                     /note="hexamer: AAGAAA"
     polyA_site      5497
                     /gene="LAMA3"
                     /gene_synonym="BM600; E170; JEB2A; JEB2B; JEB2C; LAMNA;
                     LOCS"
                     /note="major polyA site"
     regulatory      5522..5527
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LAMA3"
                     /gene_synonym="BM600; E170; JEB2A; JEB2B; JEB2C; LAMNA;
                     LOCS"
                     /note="hexamer: ATTAAA"
     polyA_site      5522
                     /gene="LAMA3"
                     /gene_synonym="BM600; E170; JEB2A; JEB2B; JEB2C; LAMNA;
                     LOCS"
                     /note="major polyA site"
     regulatory      5526..5531
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LAMA3"
                     /gene_synonym="BM600; E170; JEB2A; JEB2B; JEB2C; LAMNA;
                     LOCS"
                     /note="hexamer: AATATA"
     polyA_site      5541
                     /gene="LAMA3"
                     /gene_synonym="BM600; E170; JEB2A; JEB2B; JEB2C; LAMNA;
                     LOCS"
                     /note="major polyA site"
     polyA_site      5547
                     /gene="LAMA3"
                     /gene_synonym="BM600; E170; JEB2A; JEB2B; JEB2C; LAMNA;
                     LOCS"
     regulatory      5592..5597
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LAMA3"
                     /gene_synonym="BM600; E170; JEB2A; JEB2B; JEB2C; LAMNA;
                     LOCS"
                     /note="hexamer: ATTAAA"
     polyA_site      5618
                     /gene="LAMA3"
                     /gene_synonym="BM600; E170; JEB2A; JEB2B; JEB2C; LAMNA;
                     LOCS"
                     /note="major polyA site"
ORIGIN
        1 agccagcgga cgtccaggaa ccgggatgcc tccagcagtg aggcggtcag cctgcagcat
       61 gggatggctg tggatctttg gggcagccct ggggcagtgt ctgggctaca gttcacagca
      121 gcaaagggtg ccatttcttc agcctcccgg tcaaagtcaa ctgcaagcga gttatgtgga
      181 gtttagaccc agccagggtt gtagccctgg atactatcgg gatcataaag gcttgtatac
      241 cggacggtgt gttccctgca attgcaacgg acattcaaat caatgccagg atggctcagg
      301 catatgtgtt aactgtcagc acaacaccgc gggagagcac tgtgaacgct gccaggaggg
      361 ctactatggc aacgccgtcc acggatcctg cagggcctgc ccatgtcctc acactaacag
      421 ctttgccact ggctgtgtgg tgaatggggg agacgtgcgg tgctcctgca aagctgggta
      481 cacaggaaca cagtgtgaaa ggtgtgcacc gggatatttc gggaatcccc agaaattcgg
      541 aggtagctgc caaccatgca gttgtaacag caatggccag ctgggcagct gtcatcccct
      601 gactggagac tgcataaacc aagaacccaa agatagcagc cctgcagaag aatgtgatga
      661 ttgcgacagc tgtgtgatga ccctcctgaa cgacctggcc accatgggcg agcagctccg
      721 cctggtcaag tctcagctgc agggcctgag tgccagcgca gggcttctgg agcagatgag
      781 gcacatggag acccaggcca aggacctgag gaatcagttg ctcaactacc gttctgccat
      841 ttcaaatcat ggatcaaaaa tagaaggcct ggaaagagaa ctgactgatt tgaatcaaga
      901 atttgagact ttgcaagaaa aggctcaagt aaattccaga aaagcacaaa cattaaacaa
      961 caatgttaat cgggcaacac aaagcgcaaa agaactggat gtgaagatta aaaatgtcat
     1021 ccggaatgtg cacattcttt taaagcagat ctctgggaca gatggagagg gaaacaacgt
     1081 gccttcaggt gacttttcca gagagtgggc tgaagcccag cgcatgatga gggaactgcg
     1141 gaacaggaac tttggaaagc acctcagaga agcagaagct gataaaaggg agtcgcagct
     1201 cttgctgaac cggataagga cctggcagaa aacccaccag ggggagaaca atgggcttgc
     1261 taacagtatc cgggattctt taaatgaata cgaagccaaa ctcagtgacc ttcgtgctcg
     1321 gctgcaggag gcagctgccc aagccaagca ggcaaatggc ttgaaccaag aaaacgagag
     1381 agctttggga gccattcaga gacaagtgaa agaaataaat tccctgcaga gtgatttcac
     1441 caagtatcta accactgcag actcatcttt gttgcaaacc aacattgcgc tgcagctgat
     1501 ggagaaaagc cagaaggaat atgaaaaatt agctgccagt ttaaatgaag caagacaaga
     1561 actaagtgac aaagtaagag aactttccag atctgctggc aaaacatccc ttgtggagga
     1621 ggcagaaaag cacgcgcggt ccttacaaga gctggcaaag cagctggaag agatcaagag
     1681 aaacgccagc ggggatgagc tggtgcgctg tgctgtggat gccgccaccg cctacgagaa
     1741 catcctcaat gccatcaaag cggccgagga cgcagccaac agggctgcca gtgcatctga
     1801 atctgccctc cagacagtga taaaggaaga tctgccaaga aaagctaaaa ccctgagttc
     1861 caacagtgat aaactgttaa atgaagccaa gatgacacaa aagaagctaa agcaagaagt
     1921 cagtccagct ctcaacaacc tacagcaaac cctgaatatt gtgacagttc agaaagaagt
     1981 gatagacacc aatctcacaa ctctccgaga tggtcttcat gggatacaga gaggtgatat
     2041 tgatgctatg atcagtagtg caaagagcat ggtcagaaag gccaacgaca tcacagatga
     2101 ggttctggat gggctcaacc ccatccagac agatgtggaa agaattaagg acacctatgg
     2161 gaggacacag aacgaagact tcaaaaaggc tctgactgat gcagataact cggtgaataa
     2221 gttaaccaac aaactacctg atctttggcg caagattgaa agtatcaacc aacagctgtt
     2281 gcccttggga aacatctctg acaacatgga cagaatacga gaactaattc agcaggccag
     2341 agatgctgcc agtaaggttg ctgtccccat gaggttcaat ggtaaatctg gagtcgaagt
     2401 ccgactgcca aatgacctgg aagatttgaa aggatataca tctctgtcct tgtttctcca
     2461 aaggcccaac tcaagagaaa atgggggtac tgagaatatg tttgtgatgt accttggaaa
     2521 taaagatgcc tcccgggact acatcggcat ggcagttgtg gatggccagc tcacctgtgt
     2581 ctacaacctg ggggaccgtg aggctgaact ccaagtggac cagatcttga ccaagagtga
     2641 gactaaggag gcagttatgg atcgggtgaa atttcagaga atttatcagt ttgcaaggct
     2701 taattacacc aaaggagcca catccagtaa accagaaaca cccggagtct atgacatgga
     2761 tggtagaaat agcaatacac tccttaattt ggatcctgaa aatgttgtat tttatgttgg
     2821 aggttaccca cctgatttta aacttcccag tcgactaagt ttccctccat acaaaggttg
     2881 tattgaatta gatgacctca atgaaaatgt tctgagcttg tacaacttca aaaaaacatt
     2941 caatctcaac acaactgaag tggagccttg tagaaggagg aaggaagagt cagacaaaaa
     3001 ttattttgaa ggtacgggct atgctcgagt tccaactcaa ccacatgctc ccatcccaac
     3061 ctttggacag acaattcaga ccaccgtgga tagaggcttg ctgttctttg cagaaaacgg
     3121 ggatcgcttc atatctctaa atatagaaga tggcaagctc atggtgagat acaaactgaa
     3181 ttcagagcta ccaaaagaga gaggagttgg agacgccata aacaacggca gagaccattc
     3241 gattcagatc aaaattggaa aactccaaaa gcgtatgtgg ataaatgtgg acgttcaaaa
     3301 cactataatt gatggtgaag tatttgattt cagcacatat tatctgggag gaattccaat
     3361 tgcaatcagg gaaagattta acatttctac gcctgctttc cgaggctgca tgaaaaattt
     3421 gaagaaaacc agtggtgtcg ttagattgaa tgatactgtg ggagtaacca aaaagtgctc
     3481 ggaagactgg aagcttgtgc gatctgcctc attctccaga ggaggacaat tgagtttcac
     3541 tgatttgggc ttaccaccta ctgaccacct ccaggcctca tttggatttc agacctttca
     3601 acccagtggc atattattag atcatcagac atggacaagg aacctgcagg tcactctgga
     3661 agatggttac attgaattga gcaccagcga tagcggcggc ccaattttta aatctccaca
     3721 gacgtatatg gatggtttac tgcattatgt atctgtaata agcgacaact ctggactacg
     3781 gcttctcatc gatgaccagc ttctgagaaa tagcaaaagg ctaaaacaca tttcaagttc
     3841 ccggcagtct ctgcgtctgg gcgggagcaa ttttgagggt tgtattagca atgtttttgt
     3901 ccagaggtta tcactgagtc ctgaagtcct agatttgacc agtaactctc tcaagagaga
     3961 tgtgtccctg ggaggctgca gtttaaacaa accacctttt ctaatgttgc ttaaaggttc
     4021 taccaggttt aacaagacca agacttttcg tatcaaccag ctgttgcagg acacaccagt
     4081 ggcctcccca aggagcgtga aggtgtggca agatgcttgc tcaccacttc ccaagaccca
     4141 ggccaatcat ggagccctcc agtttgggga cattcccacc agccacttgc tattcaagct
     4201 tcctcaggag ctgctgaaac ccaggtcaca gtttgctgtg gacatgcaga caacatcctc
     4261 cagaggactg gtgtttcaca cgggcactaa gaactccttt atggctcttt atctttcaaa
     4321 aggacgtctg gtctttgcac tggggacaga tgggaaaaaa ttgaggatca aaagcaagga
     4381 gaaatgcaat gatgggaaat ggcacacggt ggtgtttggc catgatgggg aaaaggggcg
     4441 cttggttgtg gatggactga gggcccggga gggaagtttg cctggaaact ccaccatcag
     4501 catcagagcg ccagtttacc tgggatcacc tccatcaggg aaaccaaaga gcctccccac
     4561 aaacagcttt gtgggatgcc tgaagaactt tcagctggat tcaaaaccct tgtatacccc
     4621 ttcttcaagc ttcggggtgt cttcctgctt gggtggtcct ttggagaaag gcatttattt
     4681 ctctgaagaa ggaggtcatg tcgtcttggc tcactctgta ttgttggggc cagaatttaa
     4741 gcttgttttc agcatccgcc caagaagtct cactgggatc ctaatacaca tcggaagtca
     4801 gcccgggaag cacttatgtg tttacctgga ggcaggaaag gtcacggcct ctatggacag
     4861 tggggcaggt gggacctcaa cgtcggtcac accaaagcag tctctgtgtg atggacagtg
     4921 gcactcggtg gcagtcacca taaaacaaca catcctgcac ctggaactgg acacagacag
     4981 tagctacaca gctggacaga tccccttccc acctgccagc actcaagagc cactacacct
     5041 tggaggtgct ccagccaatt tgacgacact gaggatccct gtgtggaaat cattctttgg
     5101 ctgtctgagg aatattcatg tcaatcacat ccctgtccct gtcactgaag ccttggaagt
     5161 ccaggggcct gtcagtctga atggttgtcc tgaccagtaa cccaagccta tttcacagca
     5221 aggaaattca ccttcaaaag cactgattac ccaatgcacc tccctcccca gctcgagatc
     5281 attcttcact caggacacaa accagacagg tttaatagcg aatctaattt tgaattctga
     5341 ccatggatac ccatcacttt ggcattcagt gctacatgtg tattttatat aaaaatccca
     5401 tttcttgaag ataaaaaaat tgttattcaa attgttatgc acagaatgtt tttggtaata
     5461 ttaatttcca ctaaaaaatt aaatgtcttt taagaaacat tcttttccac ttgttaaaaa
     5521 aattaaatat attttaaagc actttaagaa tatgaaactt tcatatatgt taaaggatta
     5581 taatttatgg aattaaaaaa tgcagtgtag tccttaaa
//
LOCUS       NM_000228               4014 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens laminin subunit beta 3 (LAMB3), transcript variant 1,
            mRNA.
ACCESSION   NM_000228
VERSION     NM_000228.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4014)
  AUTHORS   Xie BW, Guan B, Chen W, Zhou M, Gu Q, Liu Y and Yan D.
  TITLE     Tumor-derived extracellular vesicles delivering TNF-alpha promotes
            colorectal cancer metastasis via the NF-kB/LAMB3/AKT axis by
            targeting SNAP23
  JOURNAL   Arch Biochem Biophys 741, 109605 (2023)
   PUBMED   37086961
  REMARK    GeneRIF: Tumor-derived extracellular vesicles delivering TNF-alpha
            promotes colorectal cancer metastasis via the NF-kB/LAMB3/AKT axis
            by targeting SNAP23.
REFERENCE   2  (bases 1 to 4014)
  AUTHORS   Tan EC, Diana IA, Wei H, Gondokaryono SP, Dwiyana RF, Yogya Y,
            Rahardja JI and Koh MJ.
  TITLE     Novel LAMB3 variants in two Asian patients and an overview of LAMB3
            variants associated with generalized intermediate junctional
            epidermolysis bullosa
  JOURNAL   Australas J Dermatol 63 (4), e365-e369 (2022)
   PUBMED   36057924
  REMARK    GeneRIF: Novel LAMB3 variants in two Asian patients and an overview
            of LAMB3 variants associated with generalized intermediate
            junctional epidermolysis bullosa.
REFERENCE   3  (bases 1 to 4014)
  AUTHORS   Liang B, Meng D, Cao Y, Zhang D, Zhou J, Chen M, Chen G and Huang H.
  TITLE     A novel splice-site variant of the LAMB3 gene is associated with
            junctional epidermolysis bullosa
  JOURNAL   Eur J Dermatol 32 (5), 632-636 (2022)
   PUBMED   36468719
  REMARK    GeneRIF: A novel splice-site variant of the LAMB3 gene is associated
            with junctional epidermolysis bullosa.
REFERENCE   4  (bases 1 to 4014)
  AUTHORS   Hou PC, Natsuga K, Tu WT, Huang HY, Chen B, Chen LY, Chen WR, Hong
            YK, Tang YA, Lee JY, Chen PC, Sun HS, McGrath JA and Hsu CK.
  TITLE     Complexity of Transcriptional and Translational Interference of
            Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3
            Mutations
  JOURNAL   Acta Derm Venereol 101 (8), adv00522 (2021)
   PUBMED   34231856
  REMARK    GeneRIF: Complexity of Transcriptional and Translational
            Interference of Laminin-332 Subunits in Junctional Epidermolysis
            Bullosa with LAMB3 Mutations. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4014)
  AUTHORS   Islam S, Kitagawa T, Baron B, Abiko Y, Chiba I and Kuramitsu Y.
  TITLE     ITGA2, LAMB3, and LAMC2 may be the potential therapeutic targets in
            pancreatic ductal adenocarcinoma: an integrated bioinformatics
            analysis
  JOURNAL   Sci Rep 11 (1), 10563 (2021)
   PUBMED   34007003
  REMARK    GeneRIF: ITGA2, LAMB3, and LAMC2 may be the potential therapeutic
            targets in pancreatic ductal adenocarcinoma: an integrated
            bioinformatics analysis. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4014)
  AUTHORS   McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RA and Uitto
            J.
  TITLE     Altered laminin 5 expression due to mutations in the gene encoding
            the beta 3 chain (LAMB3) in generalized atrophic benign
            epidermolysis bullosa
  JOURNAL   J Invest Dermatol 104 (4), 467-474 (1995)
   PUBMED   7706760
REFERENCE   7  (bases 1 to 4014)
  AUTHORS   Pulkkinen L, McGrath JA, Christiano AM and Uitto J.
  TITLE     Detection of sequence variants in the gene encoding the beta 3 chain
            of laminin 5 (LAMB3)
  JOURNAL   Hum Mutat 6 (1), 77-84 (1995)
   PUBMED   7550237
REFERENCE   8  (bases 1 to 4014)
  AUTHORS   Pulkkinen L, Christiano AM, Gerecke D, Wagman DW, Burgeson RE,
            Pittelkow MR and Uitto J.
  TITLE     A homozygous nonsense mutation in the beta 3 chain gene of laminin 5
            (LAMB3) in Herlitz junctional epidermolysis bullosa
  JOURNAL   Genomics 24 (2), 357-360 (1994)
   PUBMED   7698759
REFERENCE   9  (bases 1 to 4014)
  AUTHORS   Gerecke DR, Wagman DW, Champliaud MF and Burgeson RE.
  TITLE     The complete primary structure for a novel laminin chain, the
            laminin B1k chain
  JOURNAL   J Biol Chem 269 (15), 11073-11080 (1994)
   PUBMED   7512558
REFERENCE   10  (bases 1 to 4014)
  AUTHORS   Pfendner,E.G. and Lucky,A.W.
  TITLE     Junctional Epidermolysis Bullosa
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301304
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC058922.1, D37766.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000356082.9/ ENSP00000348384.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL555685.3, BC058922.1,
            AY035783.1 and BC075838.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000228.2.
            Summary: The product encoded by this gene is a laminin that belongs
            to a family of basement membrane proteins. This protein is a beta
            subunit laminin, which together with an alpha and a gamma subunit,
            forms laminin-5. Mutations in this gene cause epidermolysis bullosa
            junctional Herlitz type, and generalized atrophic benign
            epidermolysis bullosa, diseases that are characterized by
            blistering of the skin. Multiple alternatively spliced transcript
            variants that encode the same protein have been found for this
            gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1, also known as B3A) encodes the
            same protein as variants 2 and 3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4014
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.2"
     gene            1..4014
                     /gene="LAMB3"
                     /gene_synonym="AI1A; BM600-125KDA; JEB1A; JEB1B; LAM5;
                     LAMNB1"
                     /note="laminin subunit beta 3"
                     /db_xref="GeneID:3914"
                     /db_xref="HGNC:HGNC:6490"
                     /db_xref="MIM:150310"
     CDS             95..3613
                     /gene="LAMB3"
                     /gene_synonym="AI1A; BM600-125KDA; JEB1A; JEB1B; LAM5;
                     LAMNB1"
                     /note="nicein-125kDa; kalinin-140kDa; laminin, beta 3
                     (nicein (125kD), kalinin (140kD), BM600 (125kD)); kalinin
                     B1 chain; laminin S B3 chain; laminin B1k chain; nicein
                     subunit beta; kalinin subunit beta; epiligrin subunit bata;
                     laminin-5 subunit beta; laminin beta 3"
                     /codon_start=1
                     /product="laminin subunit beta-3 precursor"
                     /protein_id="NP_000219.2"
                     /db_xref="CCDS:CCDS1487.1"
                     /db_xref="GeneID:3914"
                     /db_xref="HGNC:HGNC:6490"
                     /db_xref="MIM:150310"
                     /translation="MRPFFLLCFALPGLLHAQQACSRGACYPPVGDLLVGRTRFLRASS
                     TCGLTKPETYCTQYGEWQMKCCKCDSRQPHNYYSHRVENVASSSGPMRWWQSQNDVNPV
                     SLQLDLDRRFQLQEVMMEFQGPMPAGMLIERSSDFGKTWRVYQYLAADCTSTFPRVRQG
                     RPQSWQDVRCQSLPQRPNARLNGGKVQLNLMDLVSGIPATQSQKIQEVGEITNLRVNFT
                     RLAPVPQRGYHPPSAYYAVSQLRLQGSCFCHGHADRCAPKPGASAGPSTAVQVHDVCVC
                     QHNTAGPNCERCAPFYNNRPWRPAEGQDAHECQRCDCNGHSETCHFDPAVFAASQGAYG
                     GVCDNCRDHTEGKNCERCQLHYFRNRRPGASIQETCISCECDPDGAVPGAPCDPVTGQC
                     VCKEHVQGERCDLCKPGFTGLTYANPQGCHRCDCNILGSRRDMPCDEESGRCLCLPNVV
                     GPKCDQCAPYHWKLASGQGCEPCACDPHNSLSPQCNQFTGQCPCREGFGGLMCSAAAIR
                     QCPDRTYGDVATGCRACDCDFRGTEGPGCDKASGRCLCRPGLTGPRCDQCQRGYCNRYP
                     VCVACHPCFQTYDADLREQALRFGRLRNATASLWSGPGLEDRGLASRILDAKSKIEQIR
                     AVLSSPAVTEQEVAQVASAILSLRRTLQGLQLDLPLEEETLSLPRDLESLDRSFNGLLT
                     MYQRKREQFEKISSADPSGAFRMLSTAYEQSAQAAQQVSDSSRLLDQLRDSRREAERLV
                     RQAGGGGGTGSPKLVALRLEMSSLPDLTPTFNKLCGNSRQMACTPISCPGELCPQDNGT
                     ACGSRCRGVLPRAGGAFLMAGQVAEQLRGFNAQLQRTRQMIRAAEESASQIQSSAQRLE
                     TQVSASRSQMEEDVRRTRLLIQQVRDFLTDPDTDAATIQEVSEAVLALWLPTDSATVLQ
                     KMNEIQAIAARLPNVDLVLSQTKQDIARARRLQAEAEEARSRAHAVEGQVEDVVGNLRQ
                     GTVALQEAQDTMQGTSRSLRLIQDRVAEVQQVLRPAEKLVTSMTKQLGDFWTRMEELRH
                     QARQQGAEAVQAQQLAEGASEQALSAQEGFERIKQKYAELKDRLGQSSMLGEQGARIQS
                     VKTEAEELFGETMEMMDRMKDMELELLRGSQAIMLRSADLTGLEKRVEQIRDHINGRVL
                     YYATCK"
     sig_peptide     95..145
                     /gene="LAMB3"
                     /gene_synonym="AI1A; BM600-125KDA; JEB1A; JEB1B; LAM5;
                     LAMNB1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     146..3610
                     /gene="LAMB3"
                     /gene_synonym="AI1A; BM600-125KDA; JEB1A; JEB1B; LAM5;
                     LAMNB1"
                     /product="laminin subunit beta-3"
     misc_feature    752..754
                     /gene="LAMB3"
                     /gene_synonym="AI1A; BM600-125KDA; JEB1A; JEB1B; LAM5;
                     LAMNB1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13751.1); glycosylation site"
     misc_feature    1829..2449
                     /gene="LAMB3"
                     /gene_synonym="AI1A; BM600-125KDA; JEB1A; JEB1B; LAM5;
                     LAMNB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13751.1);
                     Region: Domain II"
     misc_feature    1904..1906
                     /gene="LAMB3"
                     /gene_synonym="AI1A; BM600-125KDA; JEB1A; JEB1B; LAM5;
                     LAMNB1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13751.1); glycosylation site"
     misc_feature    2450..2542
                     /gene="LAMB3"
                     /gene_synonym="AI1A; BM600-125KDA; JEB1A; JEB1B; LAM5;
                     LAMNB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13751.1);
                     Region: Domain alpha"
     misc_feature    2522..2524
                     /gene="LAMB3"
                     /gene_synonym="AI1A; BM600-125KDA; JEB1A; JEB1B; LAM5;
                     LAMNB1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13751.1); glycosylation site"
     misc_feature    2543..3604
                     /gene="LAMB3"
                     /gene_synonym="AI1A; BM600-125KDA; JEB1A; JEB1B; LAM5;
                     LAMNB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13751.1);
                     Region: Domain I"
     regulatory      3970..3975
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LAMB3"
                     /gene_synonym="AI1A; BM600-125KDA; JEB1A; JEB1B; LAM5;
                     LAMNB1"
                     /note="hexamer: AATAAA"
     polyA_site      4014
                     /gene="LAMB3"
                     /gene_synonym="AI1A; BM600-125KDA; JEB1A; JEB1B; LAM5;
                     LAMNB1"
                     /note="major polyA site"
ORIGIN
        1 acattcaaga ggagctttca ggcgatctgg agaaagaacg gcagaacaca cagcaaggaa
       61 aggtcctttc tggggatcac cccattggct gaagatgaga ccattcttcc tcttgtgttt
      121 tgccctgcct ggcctcctgc atgcccaaca agcctgctcc cgtggggcct gctatccacc
      181 tgttggggac ctgcttgttg ggaggacccg gtttctccga gcttcatcta cctgtggact
      241 gaccaagcct gagacctact gcacccagta tggcgagtgg cagatgaaat gctgcaagtg
      301 tgactccagg cagcctcaca actactacag tcaccgagta gagaatgtgg cttcatcctc
      361 cggccccatg cgctggtggc agtcacagaa tgatgtgaac cctgtctctc tgcagctgga
      421 cctggacagg agattccagc ttcaagaagt catgatggag ttccaggggc ccatgcccgc
      481 cggcatgctg attgagcgct cctcagactt cggtaagacc tggcgagtgt accagtacct
      541 ggctgccgac tgcacctcca ccttccctcg ggtccgccag ggtcggcctc agagctggca
      601 ggatgttcgg tgccagtccc tgcctcagag gcctaatgca cgcctaaatg gggggaaggt
      661 ccaacttaac cttatggatt tagtgtctgg gattccagca actcaaagtc aaaaaattca
      721 agaggtgggg gagatcacaa acttgagagt caatttcacc aggctggccc ctgtgcccca
      781 aaggggctac caccctccca gcgcctacta tgctgtgtcc cagctccgtc tgcaggggag
      841 ctgcttctgt cacggccatg ctgatcgctg cgcacccaag cctggggcct ctgcaggccc
      901 ctccaccgct gtgcaggtcc acgatgtctg tgtctgccag cacaacactg ccggcccaaa
      961 ttgtgagcgc tgtgcaccct tctacaacaa ccggccctgg agaccggcgg agggccagga
     1021 cgcccatgaa tgccaaaggt gcgactgcaa tgggcactca gagacatgtc actttgaccc
     1081 cgctgtgttt gccgccagcc agggggcata tggaggtgtg tgtgacaatt gccgggacca
     1141 caccgaaggc aagaactgtg agcggtgtca gctgcactat ttccggaacc ggcgcccggg
     1201 agcttccatt caggagacct gcatctcctg cgagtgtgat ccggatgggg cagtgccagg
     1261 ggctccctgt gacccagtga ccgggcagtg tgtgtgcaag gagcatgtgc agggagagcg
     1321 ctgtgaccta tgcaagccgg gcttcactgg actcacctac gccaacccgc agggctgcca
     1381 ccgctgtgac tgcaacatcc tggggtcccg gagggacatg ccgtgtgacg aggagagtgg
     1441 gcgctgcctt tgtctgccca acgtggtggg tcccaaatgt gaccagtgtg ctccctacca
     1501 ctggaagctg gccagtggcc agggctgtga accgtgtgcc tgcgacccgc acaactccct
     1561 cagcccacag tgcaaccagt tcacagggca gtgcccctgt cgggaaggct ttggtggcct
     1621 gatgtgcagc gctgcagcca tccgccagtg tccagaccgg acctatggag acgtggccac
     1681 aggatgccga gcctgtgact gtgatttccg gggaacagag ggcccgggct gcgacaaggc
     1741 atcaggccgc tgcctctgcc gccctggctt gaccgggccc cgctgtgacc agtgccagcg
     1801 aggctactgt aatcgctacc cggtgtgcgt ggcctgccac ccttgcttcc agacctatga
     1861 tgcggacctc cgggagcagg ccctgcgctt tggtagactc cgcaatgcca ccgccagcct
     1921 gtggtcaggg cctgggctgg aggaccgtgg cctggcctcc cggatcctag atgcaaagag
     1981 taagattgag cagatccgag cagttctcag cagccccgca gtcacagagc aggaggtggc
     2041 tcaggtggcc agtgccatcc tctccctcag gcgaactctc cagggcctgc agctggatct
     2101 gcccctggag gaggagacgt tgtcccttcc gagagacctg gagagtcttg acagaagctt
     2161 caatggtctc cttactatgt atcagaggaa gagggagcag tttgaaaaaa taagcagtgc
     2221 tgatccttca ggagccttcc ggatgctgag cacagcctac gagcagtcag cccaggctgc
     2281 tcagcaggtc tccgacagct cgcgcctttt ggaccagctc agggacagcc ggagagaggc
     2341 agagaggctg gtgcggcagg cgggaggagg aggaggcacc ggcagcccca agcttgtggc
     2401 cctgaggctg gagatgtctt cgttgcctga cctgacaccc accttcaaca agctctgtgg
     2461 caactccagg cagatggctt gcaccccaat atcatgccct ggtgagctat gtccccaaga
     2521 caatggcaca gcctgtggct cccgctgcag gggtgtcctt cccagggccg gtggggcctt
     2581 cttgatggcg gggcaggtgg ctgagcagct gcggggcttc aatgcccagc tccagcggac
     2641 caggcagatg attagggcag ccgaggaatc tgcctcacag attcaatcca gtgcccagcg
     2701 cttggagacc caggtgagcg ccagccgctc ccagatggag gaagatgtca gacgcacacg
     2761 gctcctaatc cagcaggtcc gggacttcct aacagacccc gacactgatg cagccactat
     2821 ccaggaggtc agcgaggccg tgctggccct gtggctgccc acagactcag ctactgttct
     2881 gcagaagatg aatgagatcc aggccattgc agccaggctc cccaacgtgg acttggtgct
     2941 gtcccagacc aagcaggaca ttgcgcgtgc ccgccggttg caggctgagg ctgaggaagc
     3001 caggagccga gcccatgcag tggagggcca ggtggaagat gtggttggga acctgcggca
     3061 ggggacagtg gcactgcagg aagctcagga caccatgcaa ggcaccagcc gctcccttcg
     3121 gcttatccag gacagggttg ctgaggttca gcaggtactg cggccagcag aaaagctggt
     3181 gacaagcatg accaagcagc tgggtgactt ctggacacgg atggaggagc tccgccacca
     3241 agcccggcag cagggggcag aggcagtcca ggcccagcag cttgcggaag gtgccagcga
     3301 gcaggcattg agtgcccaag agggatttga gagaataaaa caaaagtatg ctgagttgaa
     3361 ggaccggttg ggtcagagtt ccatgctggg tgagcagggt gcccggatcc agagtgtgaa
     3421 gacagaggca gaggagctgt ttggggagac catggagatg atggacagga tgaaagacat
     3481 ggagttggag ctgctgcggg gcagccaggc catcatgctg cgctcagcgg acctgacagg
     3541 actggagaag cgtgtggagc agatccgtga ccacatcaat gggcgcgtgc tctactatgc
     3601 cacctgcaag tgatgctaca gcttccagcc cgttgcccca ctcatctgcc gcctttgctt
     3661 ttggttgggg gcagattggg ttggaatgct ttccatctcc aggagacttt catgcagcct
     3721 aaagtacagc ctggaccacc cctggtgtgt agctagtaag attaccctga gctgcagctg
     3781 agcctgagcc aatgggacag ttacacttga cagacaaaga tggtggagat tggcatgcca
     3841 ttgaaactaa gagctctcaa gtcaaggaag ctgggctggg cagtatcccc cgcctttagt
     3901 tctccactgg ggaggaatcc tggaccaagc acaaaaactt aacaaaagtg atgtaaaaat
     3961 gaaaagccaa ataaaaatct ttggaaaaga gcctggaggt tcaacgagga aaaa
//
LOCUS       NM_000229               1496 bp    mRNA    linear   PRI 19-FEB-2023
DEFINITION  Homo sapiens lecithin-cholesterol acyltransferase (LCAT), mRNA.
ACCESSION   NM_000229
VERSION     NM_000229.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1496)
  AUTHORS   Khellaf,G., Benziane,A., Kaci,L., Missoum,S., Lahmar,M. and
            Benabadji,M.
  TITLE     Rapidly progressive renal failure to reveal LCAT deficiency in an
            Algerian family
  JOURNAL   Clin Nephrol 99 (2), 92-97 (2023)
   PUBMED   36420900
  REMARK    GeneRIF: Rapidly progressive renal failure to reveal LCAT deficiency
            in an Algerian family.
REFERENCE   2  (bases 1 to 1496)
  AUTHORS   Pavanello C, Ossoli A, Strazzella A, Rise P, Veglia F, Lhomme M,
            Parini P and Calabresi L.
  TITLE     Plasma FA composition in familial LCAT deficiency indicates
            SOAT2-derived cholesteryl ester formation in humans
  JOURNAL   J Lipid Res 63 (7), 100232 (2022)
   PUBMED   35598637
  REMARK    GeneRIF: Plasma FA composition in familial LCAT deficiency indicates
            SOAT2-derived cholesteryl ester formation in humans.
REFERENCE   3  (bases 1 to 1496)
  AUTHORS   Mehta R, Elias-Lopez D, Martagon AJ, Perez-Mendez OA, Sanchez MLO,
            Segura Y, Tusie MT and Aguilar-Salinas CA.
  TITLE     LCAT deficiency: a systematic review with the clinical and genetic
            description of Mexican kindred
  JOURNAL   Lipids Health Dis 20 (1), 70 (2021)
   PUBMED   34256778
  REMARK    GeneRIF: LCAT deficiency: a systematic review with the clinical and
            genetic description of Mexican kindred. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 1496)
  AUTHORS   Shao B, Mathew AV, Thornock C and Pennathur S.
  CONSRTM   Michigan Kidney Translational Core CPROBE Investigator Group
  TITLE     Altered HDL proteome predicts incident CVD in chronic kidney disease
            patients
  JOURNAL   J Lipid Res 62, 100135 (2021)
   PUBMED   34634315
  REMARK    GeneRIF: Altered HDL proteome predicts incident CVD in chronic
            kidney disease patients.
REFERENCE   5  (bases 1 to 1496)
  AUTHORS   Park HM, Kim H, Kim DW, Yoon JH, Kim BG and Cho JY.
  TITLE     Common plasma protein marker LCAT in aggressive human breast cancer
            and canine mammary tumor
  JOURNAL   BMB Rep 53 (12), 664-669 (2020)
   PUBMED   33298249
  REMARK    GeneRIF: Common plasma protein marker LCAT in aggressive human
            breast cancer and canine mammary tumor.
REFERENCE   6  (bases 1 to 1496)
  AUTHORS   Cogan DG, Kruth HS, Datilis MB and Martin N.
  TITLE     Corneal opacity in LCAT disease
  JOURNAL   Cornea 11 (6), 595-599 (1992)
   PUBMED   1468226
REFERENCE   7  (bases 1 to 1496)
  AUTHORS   Skretting G, Blomhoff JP, Solheim J and Prydz H.
  TITLE     The genetic defect of the original Norwegian lecithin:cholesterol
            acyltransferase deficiency families
  JOURNAL   FEBS Lett 309 (3), 307-310 (1992)
   PUBMED   1516702
REFERENCE   8  (bases 1 to 1496)
  AUTHORS   Furukawa Y, Urano T, Hida Y, Itoh H, Takahashi C and Kimura S.
  TITLE     Interaction of rat lecithin-cholesterol acyltransferase with rat
            apolipoprotein A-I and with lecithin-cholesterol vesicles
  JOURNAL   J Biochem 111 (3), 413-418 (1992)
   PUBMED   1587806
REFERENCE   9  (bases 1 to 1496)
  AUTHORS   Skretting G and Prydz H.
  TITLE     An amino acid exchange in exon I of the human lecithin: cholesterol
            acyltransferase (LCAT) gene is associated with fish eye disease
  JOURNAL   Biochem Biophys Res Commun 182 (2), 583-587 (1992)
   PUBMED   1571050
  REMARK    Erratum:[Biochem Biophys Res Commun 1992 Apr 15;184(1):549]
REFERENCE   10  (bases 1 to 1496)
  AUTHORS   Teisberg,P., Gjone,E. and Olaisen,B.
  TITLE     Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency
  JOURNAL   Ann Hum Genet 38 (3), 327-331 (1975)
   PUBMED   806250
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M12625.1, SRR1803612.27646.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA2155371 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000264005.10/ ENSP00000264005.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC040162.5.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000229.1.
            Summary: This gene encodes the extracellular cholesterol
            esterifying enzyme, lecithin-cholesterol acyltransferase. The
            esterification of cholesterol is required for cholesterol
            transport. Mutations in this gene have been found to cause fish-eye
            disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1496
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..1496
                     /gene="LCAT"
                     /note="lecithin-cholesterol acyltransferase"
                     /db_xref="GeneID:3931"
                     /db_xref="HGNC:HGNC:6522"
                     /db_xref="MIM:606967"
     CDS             20..1342
                     /gene="LCAT"
                     /EC_number="2.3.1.43"
                     /EC_number="3.1.1.47"
                     /note="phosphatidylcholine-sterol acyltransferase;
                     phospholipid-cholesterol acyltransferase;
                     phosphatidylcholine--sterol O-acyltransferase; testicular
                     secretory protein Li 24; PAF acetylhydrolase;
                     platelet-activating factor acetylhydrolase;
                     1-alkyl-2-acetylglycerophosphocholine esterase"
                     /codon_start=1
                     /product="phosphatidylcholine-sterol acyltransferase
                     precursor"
                     /protein_id="NP_000220.1"
                     /db_xref="CCDS:CCDS10854.1"
                     /db_xref="GeneID:3931"
                     /db_xref="HGNC:HGNC:6522"
                     /db_xref="MIM:606967"
                     /translation="MGPPGSPWQWVTLLLGLLLPPAAPFWLLNVLFPPHTTPKAELSNH
                     TRPVILVPGCLGNQLEAKLDKPDVVNWMCYRKTEDFFTIWLDLNMFLPLGVDCWIDNTR
                     VVYNRSSGLVSNAPGVQIRVPGFGKTYSVEYLDSSKLAGYLHTLVQNLVNNGYVRDETV
                     RAAPYDWRLEPGQQEEYYRKLAGLVEEMHAAYGKPVFLIGHSLGCLHLLYFLLRQPQAW
                     KDRFIDGFISLGAPWGGSIKPMLVLASGDNQGIPIMSSIKLKEEQRITTTSPWMFPSRM
                     AWPEDHVFISTPSFNYTGRDFQRFFADLHFEEGWYMWLQSRDLLAGLPAPGVEVYCLYG
                     VGLPTPRTYIYDHGFPYTDPVGVLYEDGDDTVATRSTELCGLWQGRQPQPVHLLPLHGI
                     QHLNMVFSNLTLEHINAILLGAYRQGPPASPTASPEPPPPE"
     sig_peptide     20..91
                     /gene="LCAT"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     92..1339
                     /gene="LCAT"
                     /product="phosphatidylcholine-sterol acyltransferase"
     misc_feature    149..151
                     /gene="LCAT"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:7613477; propagated from
                     UniProtKB/Swiss-Prot (P04180.1); glycosylation site"
     misc_feature    341..343
                     /gene="LCAT"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:26195816,
                     ECO:0000269|PubMed:7613477, ECO:0007744|PDB:4X96;
                     propagated from UniProtKB/Swiss-Prot (P04180.1);
                     glycosylation site"
     misc_feature    536..538
                     /gene="LCAT"
                     /note="Determinant for substrate specificity.
                     /evidence=ECO:0000305|PubMed:14636062; propagated from
                     UniProtKB/Swiss-Prot (P04180.1); other site"
     misc_feature    905..907
                     /gene="LCAT"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:26195816, ECO:0000269|PubMed:7613477,
                     ECO:0007744|PDB:4X96; propagated from UniProtKB/Swiss-Prot
                     (P04180.1); glycosylation site"
     misc_feature    1241..1243
                     /gene="LCAT"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:26195816,
                     ECO:0000269|PubMed:7613477, ECO:0007744|PDB:4X96;
                     propagated from UniProtKB/Swiss-Prot (P04180.1);
                     glycosylation site"
     misc_feature    1310..1312
                     /gene="LCAT"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:7613477; propagated from
                     UniProtKB/Swiss-Prot (P04180.1); glycosylation site"
     misc_feature    1316..1318
                     /gene="LCAT"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:7613477; propagated from
                     UniProtKB/Swiss-Prot (P04180.1); glycosylation site"
     regulatory      1338..1343
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LCAT"
                     /note="hexamer: AATAAA"
     polyA_site      1364
                     /gene="LCAT"
                     /note="major polyA site"
ORIGIN
        1 agtaggcacc agggctggaa tggggccgcc cggctcccca tggcagtggg tgacgctgct
       61 gctggggctg ctgctccctc ctgccgcccc cttctggctc ctcaatgtgc tcttcccccc
      121 gcacaccacg cccaaggctg agctcagtaa ccacacacgg cccgtcatcc tcgtgcccgg
      181 ctgcctgggg aatcagctag aagccaagct ggacaaacca gatgtggtga actggatgtg
      241 ctaccgcaag acagaggact tcttcaccat ctggctggat ctcaacatgt tcctacccct
      301 tggggtagac tgctggatcg ataacaccag ggttgtctac aaccggagct ctgggctcgt
      361 gtccaacgcc cctggtgtcc agatccgcgt ccctggcttt ggcaagacct actctgtgga
      421 gtacctggac agcagcaagc tggcagggta cctgcacaca ctggtgcaga acctggtcaa
      481 caatggctac gtgcgggacg agactgtgcg cgccgccccc tatgactggc ggctggagcc
      541 cggccagcag gaggagtact accgcaagct cgcagggctg gtggaggaga tgcacgctgc
      601 ctatgggaag cctgtcttcc tcattggcca cagcctcggc tgtctacact tgctctattt
      661 cctgctgcgc cagccccagg cctggaagga ccgctttatt gatggcttca tctctcttgg
      721 ggctccctgg ggtggctcca tcaagcccat gctggtcttg gcctcaggtg acaaccaggg
      781 catccccatc atgtccagca tcaagctgaa agaggagcag cgcataacca ccacctcccc
      841 ctggatgttt ccctctcgca tggcgtggcc tgaggaccac gtgttcattt ccacacccag
      901 cttcaactac acaggccgtg acttccaacg cttctttgca gacctgcact ttgaggaagg
      961 ctggtacatg tggctgcagt cacgtgacct cctggcagga ctcccagcac ctggtgtgga
     1021 agtatactgt ctttacggcg tgggcctgcc cacgccccgc acctacatct acgaccacgg
     1081 cttcccctac acggaccctg tgggtgtgct ctatgaggat ggtgatgaca cggtggcgac
     1141 ccgcagcacc gagctctgtg gcctgtggca gggccgccag ccacagcctg tgcacctgct
     1201 gcccctgcac gggatacagc atctcaacat ggtcttcagc aacctgaccc tggagcacat
     1261 caatgccatc ctgctgggtg cctaccgcca gggtccccct gcatccccga ctgccagccc
     1321 agagcccccg cctcctgaat aaagaccttc ctttgctacc gtaagccctg atggctatgt
     1381 ttcaggttga agggaggcac tagagtccca cactaggttt cactcctcac cagccacagg
     1441 ctcagtgctg tgtgcagtga ggcaagatgg gctctgctga ggcctgggac tgagct
//
LOCUS       NM_000230               3427 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens leptin (LEP), mRNA.
ACCESSION   NM_000230
VERSION     NM_000230.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3427)
  AUTHORS   Dubern B and Clement K.
  TITLE     Unravelling leptin variants: advancing precision medicine in obesity
  JOURNAL   Nat Rev Endocrinol 19 (10), 562-563 (2023)
   PUBMED   37525005
  REMARK    GeneRIF: Unravelling leptin variants: advancing precision medicine
            in obesity.
REFERENCE   2  (bases 1 to 3427)
  AUTHORS   Guadix P, Corrales I, Vilarino-Garcia T, Rodriguez-Chacon C,
            Sanchez-Jimenez F, Jimenez-Cortegana C, Duenas JL, Sanchez-Margalet
            V and Perez-Perez A.
  TITLE     Expression of nutrient transporters in placentas affected by
            gestational diabetes: role of leptin
  JOURNAL   Front Endocrinol (Lausanne) 14, 1172831 (2023)
   PUBMED   37497352
  REMARK    GeneRIF: Expression of nutrient transporters in placentas affected
            by gestational diabetes: role of leptin. Review article Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 3427)
  AUTHORS   Caruso A, Gelsomino L, Panza S, Accattatis FM, Naimo GD, Barone I,
            Giordano C, Catalano S and Ando S.
  TITLE     Leptin: A Heavyweight Player in Obesity-Related Cancers
  JOURNAL   Biomolecules 13 (7), 1084 (2023)
   PUBMED   37509120
  REMARK    GeneRIF: Leptin: A Heavyweight Player in Obesity-Related Cancers.
            Review article Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3427)
  AUTHORS   Xiao Y, Wu W, Cai K, Jin L, Jia Y, Qiao N, Liu F, Ru S, Cao L and
            Gui S.
  TITLE     Clinical Significance of Plasma Leptin and Its Receptors mRNA
            Expression in Craniopharyngiomas: A Prospective Study
  JOURNAL   Biomolecules 13 (7), 1078 (2023)
   PUBMED   37509115
  REMARK    GeneRIF: Clinical Significance of Plasma Leptin and Its Receptors
            mRNA Expression in Craniopharyngiomas: A Prospective Study.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3427)
  AUTHORS   Cui H, Lopez M and Rahmouni K.
  TITLE     The cellular and molecular bases of leptin and ghrelin resistance in
            obesity
  JOURNAL   Nat Rev Endocrinol 13 (6), 338-351 (2017)
   PUBMED   28232667
  REMARK    Review article
REFERENCE   6  (bases 1 to 3427)
  AUTHORS   Abella V, Scotece M, Conde J, Pino J, Gonzalez-Gay MA, Gomez-Reino
            JJ, Mera A, Lago F, Gomez R and Gualillo O.
  TITLE     Leptin in the interplay of inflammation, metabolism and immune
            system disorders
  JOURNAL   Nat Rev Rheumatol 13 (2), 100-109 (2017)
   PUBMED   28053336
  REMARK    Review article
REFERENCE   7  (bases 1 to 3427)
  AUTHORS   Isse N, Ogawa Y, Tamura N, Masuzaki H, Mori K, Okazaki T, Satoh N,
            Shigemoto M, Yoshimasa Y, Nishi S et al.
  TITLE     Structural organization and chromosomal assignment of the human
            obese gene
  JOURNAL   J Biol Chem 270 (46), 27728-27733 (1995)
   PUBMED   7499240
REFERENCE   8  (bases 1 to 3427)
  AUTHORS   Zhang Y, Proenca R, Maffei M, Barone M, Leopold L and Friedman JM.
  TITLE     Positional cloning of the mouse obese gene and its human homologue
  JOURNAL   Nature 372 (6505), 425-432 (1994)
   PUBMED   7984236
  REMARK    Erratum:[Nature 1995 Mar 30;374(6521):479]
REFERENCE   9  (bases 1 to 3427)
  AUTHORS   Friedman JM, Leibel RL, Siegel DS, Walsh J and Bahary N.
  TITLE     Molecular mapping of the mouse ob mutation
  JOURNAL   Genomics 11 (4), 1054-1062 (1991)
   PUBMED   1686014
REFERENCE   10  (bases 1 to 3427)
  AUTHORS   Groot,P.H., Scholte,H.R. and Hulsmann,W.C.
  TITLE     Fatty acid activation: specificity, localization, and function
  JOURNAL   Adv Lipid Res 14, 75-126 (1976)
   PUBMED   3952
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U43653.1, BC060830.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000308868.5/ ENSP00000312652.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA762132.1, U43653.1,
            AC018635.10 and BU752306.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000230.2.
            Summary: This gene encodes a protein that is secreted by white
            adipocytes into the circulation and plays a major role in the
            regulation of energy homeostasis. Circulating leptin binds to the
            leptin receptor in the brain, which activates downstream signaling
            pathways that inhibit feeding and promote energy expenditure. This
            protein also has several endocrine functions, and is involved in
            the regulation of immune and inflammatory responses, hematopoiesis,
            angiogenesis, reproduction, bone formation and wound healing.
            Mutations in this gene and its regulatory regions cause severe
            obesity and morbid obesity with hypogonadism in human patients. A
            mutation in this gene has also been linked to type 2 diabetes
            mellitus development. [provided by RefSeq, Aug 2017].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3427
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.1"
     gene            1..3427
                     /gene="LEP"
                     /gene_synonym="LEPD; OB; OBS"
                     /note="leptin"
                     /db_xref="GeneID:3952"
                     /db_xref="HGNC:HGNC:6553"
                     /db_xref="MIM:164160"
     CDS             58..561
                     /gene="LEP"
                     /gene_synonym="LEPD; OB; OBS"
                     /note="leptin (murine obesity homolog); leptin (obesity
                     homolog, mouse); obese, mouse, homolog of; obesity factor;
                     obese protein"
                     /codon_start=1
                     /product="leptin precursor"
                     /protein_id="NP_000221.1"
                     /db_xref="CCDS:CCDS5800.1"
                     /db_xref="GeneID:3952"
                     /db_xref="HGNC:HGNC:6553"
                     /db_xref="MIM:164160"
                     /translation="MHWGTLCGFLWLWPYLFYVQAVPIQKVQDDTKTLIKTIVTRINDI
                     SHTQSVSSKQKVTGLDFIPGLHPILTLSKMDQTLAVYQQILTSMPSRNVIQISNDLENL
                     RDLLHVLAFSKSCHLPWASGLETLDSLGGVLEASGYSTEVVALSRLQGSLQDMLWQLDL
                     SPGC"
     sig_peptide     58..120
                     /gene="LEP"
                     /gene_synonym="LEPD; OB; OBS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     121..558
                     /gene="LEP"
                     /gene_synonym="LEPD; OB; OBS"
                     /product="leptin"
     regulatory      3405..3410
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LEP"
                     /gene_synonym="LEPD; OB; OBS"
                     /note="hexamer: AATAAA"
     polyA_site      3427
                     /gene="LEP"
                     /gene_synonym="LEPD; OB; OBS"
                     /note="major polyA site"
ORIGIN
        1 gtaggaatcg cagcgccagc ggttgcaagg cccaagaagc ccatcctggg aaggaaaatg
       61 cattggggaa ccctgtgcgg attcttgtgg ctttggccct atcttttcta tgtccaagct
      121 gtgcccatcc aaaaagtcca agatgacacc aaaaccctca tcaagacaat tgtcaccagg
      181 atcaatgaca tttcacacac gcagtcagtc tcctccaaac agaaagtcac cggtttggac
      241 ttcattcctg ggctccaccc catcctgacc ttatccaaga tggaccagac actggcagtc
      301 taccaacaga tcctcaccag tatgccttcc agaaacgtga tccaaatatc caacgacctg
      361 gagaacctcc gggatcttct tcacgtgctg gccttctcta agagctgcca cttgccctgg
      421 gccagtggcc tggagacctt ggacagcctg gggggtgtcc tggaagcttc aggctactcc
      481 acagaggtgg tggccctgag caggctgcag gggtctctgc aggacatgct gtggcagctg
      541 gacctcagcc ctgggtgctg aggccttgaa ggtcactctt cctgcaagga ctacgttaag
      601 ggaaggaact ctggcttcca ggtatctcca ggattgaaga gcattgcatg gacacccctt
      661 atccaggact ctgtcaattt ccctgactcc tctaagccac tcttccaaag gcataagacc
      721 ctaagcctcc ttttgcttga aaccaaagat atatacacag gatcctattc tcaccaggaa
      781 gggggtccac ccagcaaaga gtgggctgca tctgggattc ccaccaaggt cttcagccat
      841 caacaagagt tgtcttgtcc cctcttgacc catctccccc tcactgaatg cctcaatgtg
      901 accaggggtg atttcagaga gggcagaggg gtaggcagag cctttggatg accagaacaa
      961 ggttccctct gagaattcca aggagttcca tgaagaccac atccacacac gcaggaactc
     1021 ccagcaacac aagctggaag cacatgttta tttattctgc attttattct ggatggattt
     1081 gaagcaaagc accagcttct ccaggctctt tggggtcagc cagggccagg ggtctccctg
     1141 gagtgcagtt tccaatccca tagatgggtc tggctgagct gaacccattt tgagtgactc
     1201 gagggttggg ttcatctgag caagagctgg caaaggtggc tctccagtta gttctctcgt
     1261 aactggtttc atttctactg tgactgatgt tacatcacag tgtttgcaat ggtgttgccc
     1321 tgagtggatc tccaaggacc aggttatttt aaaaagattt gttttgtcaa gtgtcatatg
     1381 taggtgtctg cacccagggg tggggaatgt ttgggcagaa gggagaagga tctagaatgt
     1441 gttttctgaa taacatttgt gtggtgggtt ctttggaagg agtgagatca ttttcttatc
     1501 ttctgcaatt gcttaggatg tttttcatga aaatagctct ttcagggggg ttgtgaggcc
     1561 tggccaggca ccccctggag agaagtttct ggccctggct gaccccaaag agcctggaga
     1621 agctgatgct ttgcttcaaa tccatccaga ataaaacgca aagggctgaa agccatttgt
     1681 tggggcagtg gtaagctctg gctttctccg actgctaggg agtggtcttt cctatcatgg
     1741 agtgacggtc ccacactggt gactgcgatc ttcagagcag gggtccttgg tgtgaccctc
     1801 tgaatggtcc agggttgatc acactctggg tttattacat ggcagtgttc ctatttgggg
     1861 cttgcatgcc aaattgtagt tcttgtctga ttggctcacc caagcaaggc caaaattacc
     1921 aaaaatcttg gggggttttt actccagtgg tgaagaaaac tcctttagca ggtggtcctg
     1981 agacctgaca agcactgcta ggcgagtgcc aggactcccc aggccaggcc accaggatgg
     2041 cccttcccac tggaggtcac attcaggaag atgaaagagg aggtttgggg tctgccacca
     2101 tcctgctgct gtgtttttgc tatcacacag tgggtggtgg atctgtccaa ggaaacttga
     2161 atcaaagcag ttaactttaa gactgagcac ctgcttcatg ctcagccctg actggtgcta
     2221 taggctggag aagctcaccc aataaacatt aagattgagg cctgccctca gggatcttgc
     2281 attcccagtg gtcaaaccgc actcacccat gtgccaaggt ggggtattta ccacagcagc
     2341 tgaacagcca aatgcatggt gcagttgaca gcaggtggga aatggtatga gctgaggggg
     2401 gccgtgccca ggggcccaca gggaaccctg cttgcacttt gtaacatgtt tacttttcag
     2461 ggcatcttag cttctattat agccacatcc ctttgaaaca agataactga gaatttaaaa
     2521 ataagaaaat acataagacc ataacagcca acaggtggca ggaccaggac tatagcccag
     2581 gtcctctgat acccagagca ttacgtgagc caggtaatga gggactggaa ccagggagac
     2641 cgagcgcttt ctggaaaaga ggagtttcga ggtagagttt gaaggaggtg agggatgtga
     2701 attgcctgca gagagaagcc tgttttgttg gaaggtttgg tgtgtggaga tgcagaggta
     2761 aaagtgtgag cagtgagtta cagcgagagg cagagaaaga agagacagga gggcaagggc
     2821 catgctgaag ggaccttgaa gggtaaagaa gtttgatatt aaaggagtta agagtagcaa
     2881 gttctagaga agaggctggt gctgtggcca gggtgagagc tgctctggaa aatgtgaccc
     2941 agatcctcac aaccacctaa tcaggctgag gtgtcttaag ccttttgctc acaaaacctg
     3001 gcacaatggc taattcccag agtgtgaaac ttcctaagta taaatggttg tctgtttttg
     3061 taacttaaaa aaaaaaaaaa aagtttggcc gggtgcggtg gctcacgcct gtaatcccag
     3121 cactttggga ggccaaggtg gggggatcac aaggtcacta gatggcgagc atcctggcca
     3181 acatggtgaa accccgtctc tactaaaaac acaaaagtta gctgagcgtg gtggcgggcg
     3241 cctgtagtcc cagccactcg ggaggctgag acaggagaat cgcttaaacc tgggaggcgg
     3301 agagtacagt gagccaagat cgcgccactg cactccggcc tgatgacaga gcgagattcc
     3361 gtcttaaaaa aaaaaaaaaa aaagtttgtt tttaaaaaaa tctaaataaa ataactttgc
     3421 cccctgc
//
LOCUS       NM_000231               1594 bp    mRNA    linear   PRI 19-MAR-2023
DEFINITION  Homo sapiens sarcoglycan gamma (SGCG), transcript variant 1, mRNA.
ACCESSION   NM_000231
VERSION     NM_000231.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1594)
  AUTHORS   Pluta N, Hoffjan S, Zimmer F, Kohler C, Lucke T, Mohr J, Vorgerd M,
            Nguyen HHP, Atlan D, Wolf B, Zaum AK and Rost S.
  TITLE     Homozygous Inversion on Chromosome 13 Involving SGCG Detected by
            Short Read Whole Genome Sequencing in a Patient Suffering from
            Limb-Girdle Muscular Dystrophy
  JOURNAL   Genes (Basel) 13 (10), 1752 (2022)
   PUBMED   36292638
  REMARK    GeneRIF: Homozygous Inversion on Chromosome 13 Involving SGCG
            Detected by Short Read Whole Genome Sequencing in a Patient
            Suffering from Limb-Girdle Muscular Dystrophy. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 1594)
  AUTHORS   Nikpay M, Lau P, Soubeyrand S, Whytock KL, Beehler K, Pileggi C,
            Ghosh S, Harper ME, Dent R and McPherson R.
  TITLE     SGCG rs679482 Associates With Weight Loss Success in Response to an
            Intensively Supervised Outpatient Program
  JOURNAL   Diabetes 69 (9), 2017-2026 (2020)
   PUBMED   32527767
  REMARK    GeneRIF: SGCG rs679482 Associates With Weight Loss Success in
            Response to an Intensively Supervised Outpatient Program.
REFERENCE   3  (bases 1 to 1594)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1594)
  AUTHORS   Jamaleddine M, Harris MS, Liyanage L and Cook GA.
  TITLE     Expression, purification, and structural analysis of the full-length
            human integral membrane protein gamma-sarcoglycan
  JOURNAL   Protein Expr Purif 167, 105525 (2020)
   PUBMED   31682967
  REMARK    GeneRIF: Expression, purification, and structural analysis of the
            full-length human integral membrane protein gamma-sarcoglycan.
REFERENCE   5  (bases 1 to 1594)
  AUTHORS   Dalichaouche I, Sifi Y, Roudaut C, Sifi K, Hamri A, Rouabah L, Abadi
            N and Richard I.
  TITLE     gamma-sarcoglycan and dystrophin mutation spectrum in an Algerian
            cohort
  JOURNAL   Muscle Nerve 56 (1), 129-135 (2017)
   PUBMED   27759885
  REMARK    GeneRIF: This study showed that fifteen families were shown to carry
            SGCG variants in patient with early onset severe muscular dystrophy.
REFERENCE   6  (bases 1 to 1594)
  AUTHORS   Jung D, Leturcq F, Sunada Y, Duclos F, Tome FM, Moomaw C, Merlini L,
            Azibi K, Chaouch M, Slaughter C, Fardeau M, Kaplan JC and Campbell
            KP.
  TITLE     Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive
            muscular dystrophy linked to chromosome 13q12
  JOURNAL   FEBS Lett 381 (1-2), 15-20 (1996)
   PUBMED   8641426
REFERENCE   7  (bases 1 to 1594)
  AUTHORS   Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida
            M, Yamamoto H, Bonnemann CG, Gussoni E, Denton PH, Kyriakides T,
            Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM
            and Ozawa E.
  TITLE     Mutations in the dystrophin-associated protein gamma-sarcoglycan in
            chromosome 13 muscular dystrophy
  JOURNAL   Science 270 (5237), 819-822 (1995)
   PUBMED   7481775
REFERENCE   8  (bases 1 to 1594)
  AUTHORS   Ben Othmane,K., Speer,M.C., Stauffer,J., Blel,S., Middleton,L., Ben
            Hamida,C., Etribi,A., Loeb,D., Hentati,F., Roses,A.D. et al.
  TITLE     Evidence for linkage disequilibrium in chromosome 13-linked
            Duchenne-like muscular dystrophy (LGMD2C)
  JOURNAL   Am J Hum Genet 57 (3), 732-734 (1995)
   PUBMED   7668303
REFERENCE   9  (bases 1 to 1594)
  AUTHORS   Jorde LB, Watkins WS, Viskochil D, O'Connell P and Ward K.
  TITLE     Linkage disequilibrium in the neurofibromatosis 1 (NF1) region:
            implications for gene mapping
  JOURNAL   Am J Hum Genet 53 (5), 1038-1050 (1993)
   PUBMED   8105688
REFERENCE   10  (bases 1 to 1594)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301582
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U34976.1, BC109321.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142680,
            SAMEA2147596 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000218867.4/ ENSP00000218867.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356287.16, DA897096.1,
            BC074778.2, AL157766.9 and U34976.1.
            On Feb 4, 2020 this sequence version replaced NM_000231.2.
            Summary: This gene encodes gamma-sarcoglycan, one of several
            sarcolemmal transmembrane glycoproteins that interact with
            dystrophin. The dystrophin-glycoprotein complex (DGC) spans the
            sarcolemma and is comprised of dystrophin, syntrophin, alpha- and
            beta-dystroglycans and sarcoglycans. The DGC provides a structural
            link between the subsarcolemmal cytoskeleton and the extracellular
            matrix of muscle cells. Defects in the encoded protein can lead to
            early onset autosomal recessive muscular dystrophy, in particular
            limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by
            RefSeq, Oct 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1594
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.12"
     gene            1..1594
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; LGMDR5; MAM; SCARMD2; SCG3"
                     /note="sarcoglycan gamma"
                     /db_xref="GeneID:6445"
                     /db_xref="HGNC:HGNC:10809"
                     /db_xref="MIM:608896"
     misc_feature    14..16
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; LGMDR5; MAM; SCARMD2; SCG3"
                     /note="upstream in-frame stop codon"
     CDS             98..973
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; LGMDR5; MAM; SCARMD2; SCG3"
                     /note="isoform 1 is encoded by transcript variant 1; 35kD
                     dystrophin-associated glycoprotein; gamma-sarcoglycan; 35
                     kDa dystrophin-associated glycoprotein; sarcoglycan, gamma
                     (35kDa dystrophin-associated glycoprotein)"
                     /codon_start=1
                     /product="gamma-sarcoglycan isoform 1"
                     /protein_id="NP_000222.2"
                     /db_xref="CCDS:CCDS9299.1"
                     /db_xref="GeneID:6445"
                     /db_xref="HGNC:HGNC:10809"
                     /db_xref="MIM:608896"
                     /translation="MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLI
                     ILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLL
                     LQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVVGTD
                     KLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALS
                     QMDILFHSSDGMLVLDAETVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVST
                     TCQEHNHICL"
     misc_feature    209..271
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; LGMDR5; MAM; SCARMD2; SCG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13326.4);
                     transmembrane region"
     misc_feature    425..427
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; LGMDR5; MAM; SCARMD2; SCG3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13326.4); glycosylation site"
     regulatory      1573..1578
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; LGMDR5; MAM; SCARMD2; SCG3"
                     /note="hexamer: AATAAA"
     polyA_site      1594
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; LGMDR5; MAM; SCARMD2; SCG3"
                     /note="major polyA site"
ORIGIN
        1 attctgtaag tcatagaaaa gtttgaaaca ttctgtctgt ggtagagctc gggccagctg
       61 tagttcattc gccagtgtgc ttttcttaat atctaagatg gtgcgtgagc agtacactac
      121 agccacagaa ggcatctgca tagagaggcc agagaatcag tatgtctaca aaattggcat
      181 ttatggctgg agaaagcgct gtctctactt gtttgttctt cttttactca tcatcctcgt
      241 tgtgaattta gctcttacaa tttggattct taaagtgatg tggttttctc cagcaggaat
      301 gggccacttg tgtgtaacaa aagatggact gcgcttggaa ggggaatcag aatttttatt
      361 cccattgtat gccaaagaaa tacactccag agtggactca tctctgcttc tacaatcaac
      421 ccagaatgtg actgtaaatg cgcgcaactc agaaggggag gtcacaggca ggttaaaagt
      481 cggtcccaaa atggtagaag tccagaatca acagtttcag atcaactcca acgacggcaa
      541 gccactattt actgtagatg agaaggaagt tgtggttggt acagataaac ttcgagtaac
      601 tgggcctgaa ggggctcttt ttgaacattc agtggagaca ccccttgtca gagccgaccc
      661 gtttcaagac cttagattag aatcccccac tcggagtcta agcatggatg ccccaagggg
      721 tgtgcatatt caagctcacg ctgggaaaat tgaggcgctt tctcaaatgg atattctttt
      781 tcatagtagt gatggaatgc ttgtgcttga tgctgaaact gtgtgcttac ccaagctggt
      841 gcaggggacg tggggtccct ctggcagctc acagagcctc tacgaaatct gtgtgtgtcc
      901 agatgggaag ctgtacctgt ctgtggccgg tgtgagcacc acgtgccagg agcacaacca
      961 catctgcctc tgagctgcct gcgtcctctc ggtgagctgt gcagtgccgg ccccagatcc
     1021 tcacacccag ggagcagctg cacatcgtga aagactgagg cagcgtggat gggaagtaaa
     1081 cgcttccaga ggaactcaga aaaaattatg tgccagtgaa agtgtttgga caaaaactac
     1141 atgatctcaa aatgcacgtg gatgtgagac acaaaagttg acaaaatgga aaagcaatgt
     1201 gtttttccac tggattaatt ttcaccggaa caattgcgaa ttctctctgc ctcgcctccc
     1261 cctatcttgt ccgtgtgggc acacactgag tgttgagttg ccgtgtggag ttaatgtatg
     1321 acgctccact gtggatatct aatgccctgt tgagagtagc cttgctcagt actaaaatgc
     1381 cccaaagttc tatacagcat ttcctttata gcattcaaac ctcacatcct cccttcagtt
     1441 taatgcaagt aagtcaggtt tcacaagaaa attttcaagt tttgaaggga atttgaggtt
     1501 gatctggttt tcaagatgta gttaaaggaa taaatcactc aaaattaaac tttctgtata
     1561 tagtcaataa gcaataaaaa cctcattttt caga
//
LOCUS       NM_000232               4248 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens sarcoglycan beta (SGCB), mRNA.
ACCESSION   NM_000232
VERSION     NM_000232.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4248)
  AUTHORS   Sanga S, Chakraborty S, Bardhan M, Polavarapu K, Kumar VP,
            Bhattacharya C, Nashi S, Vengalil S, Geetha TS, Ramprasad V, Nalini
            A, Basu A and Acharya M.
  TITLE     Identification of a shared, common haplotype segregating with an
            SGCB c.544 T > G mutation in Indian patients affected with
            sarcoglycanopathy
  JOURNAL   Sci Rep 13 (1), 15095 (2023)
   PUBMED   37699968
  REMARK    GeneRIF: Identification of a shared, common haplotype segregating
            with an SGCB c.544 T > G mutation in Indian patients affected with
            sarcoglycanopathy. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4248)
  AUTHORS   Li C, Wilborn J, Pittman S, Daw J, Alonso-Perez J, Diaz-Manera J,
            Weihl CC and Haller G.
  TITLE     Comprehensive functional characterization of SGCB coding variants
            predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E
  JOURNAL   J Clin Invest 133 (12), e168156 (2023)
   PUBMED   37317968
  REMARK    GeneRIF: Comprehensive functional characterization of SGCB coding
            variants predicts pathogenicity in limb-girdle muscular dystrophy
            type R4/2E. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4248)
  AUTHORS   Bardhan M, Anjanappa RM, Polavarapu K, Preethish-Kumar V, Vengalil
            S, Nashi S, Sanga S, Padmanabh H, Valasani RK, Nishadham V,
            Keerthipriya M, Geetha TS, Ramprasad V, Arunachal G, Thomas PT,
            Acharya M and Nalini A.
  TITLE     Clinical, genetic profile and disease progression of
            sarcoglycanopathies in a large cohort from India: high prevalence of
            SGCB c.544A > C
  JOURNAL   Neurogenetics 23 (3), 187-202 (2022)
   PUBMED   35416532
  REMARK    GeneRIF: Clinical, genetic profile and disease progression of
            sarcoglycanopathies in a large cohort from India: high prevalence of
            SGCB c.544A > C.
REFERENCE   4  (bases 1 to 4248)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 4248)
  AUTHORS   Alavi A, Esmaeili S, Nilipour Y, Nafissi S, Tonekaboni SH, Zamani G,
            Ashrafi MR, Kahrizi K, Najmabadi H and Jazayeri F.
  TITLE     LGMD2E is the most common type of sarcoglycanopathies in the Iranian
            population
  JOURNAL   J Neurogenet 31 (3), 161-169 (2017)
   PUBMED   28687063
  REMARK    GeneRIF: This study demonstrated that LGMD2E is the most common type
            of sarcoglycanopathies in the Iranian population.
REFERENCE   6  (bases 1 to 4248)
  AUTHORS   Bonnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sa Moreira
            E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M and Kunkel LM.
  TITLE     Genomic screening for beta-sarcoglycan gene mutations: missense
            mutations may cause severe limb-girdle muscular dystrophy type 2E
            (LGMD 2E)
  JOURNAL   Hum Mol Genet 5 (12), 1953-1961 (1996)
   PUBMED   8968749
REFERENCE   7  (bases 1 to 4248)
  AUTHORS   Bonnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E,
            McNally EM, Duggan DJ, Angelini C and Hoffman EP.
  TITLE     Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular
            dystrophy with loss of the sarcoglycan complex
  JOURNAL   Nat Genet 11 (3), 266-273 (1995)
   PUBMED   7581449
  REMARK    Erratum:[Nat Genet 1996 Jan;12(1):110]
REFERENCE   8  (bases 1 to 4248)
  AUTHORS   Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J,
            Richard I, Moomaw C, Slaughter C et al.
  TITLE     Beta-sarcoglycan: characterization and role in limb-girdle muscular
            dystrophy linked to 4q12
  JOURNAL   Nat Genet 11 (3), 257-265 (1995)
   PUBMED   7581448
REFERENCE   9  (bases 1 to 4248)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301582
REFERENCE   10  (bases 1 to 4248)
  AUTHORS   Yoshida M and Ozawa E.
  TITLE     Glycoprotein complex anchoring dystrophin to sarcolemma
  JOURNAL   J Biochem 108 (5), 748-752 (1990)
   PUBMED   2081733
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853566.21133.1,
            SRR11853561.22169.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381431.10/ ENSP00000370839.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN483961.1, BC020709.1,
            AC093858.2 and AK094731.1.
            On Dec 4, 2019 this sequence version replaced NM_000232.4.
            Summary: This gene encodes a member of the sarcoglycan family.
            Sarcoglycans are transmembrane components in the
            dystrophin-glycoprotein complex which help stabilize the muscle
            fiber membranes and link the muscle cytoskeleton to the
            extracellular matrix. Mutations in this gene have been associated
            with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4248
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     gene            1..4248
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /note="sarcoglycan beta"
                     /db_xref="GeneID:6443"
                     /db_xref="HGNC:HGNC:10806"
                     /db_xref="MIM:600900"
     CDS             41..997
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /note="beta-sarcoglycan(43kD dystrophin-associated
                     glycoprotein); limb girdle muscular dystrophy 2E
                     (non-linked families); 43DAG; beta-SG; 43 kDa
                     dystrophin-associated glycoprotein; sarcoglycan, beta
                     (43kDa dystrophin-associated glycoprotein)"
                     /codon_start=1
                     /product="beta-sarcoglycan"
                     /protein_id="NP_000223.1"
                     /db_xref="CCDS:CCDS3488.1"
                     /db_xref="GeneID:6443"
                     /db_xref="HGNC:HGNC:10806"
                     /db_xref="MIM:600900"
                     /translation="MAAAAAAAAEQQSSNGPVKKSMREKAVERRSVNKEHNSNFKAGYI
                     PIDEDRLHKTGLRGRKGNLAICVIILLFILAVINLIITLVIWAVIRIGPNGCDSMEFHE
                     SGLLRFKQVSDMGVIHPLYKSTVGGRRNENLVITGNNQPIVFQQGTTKLSVENNKTSIT
                     SDIGMQFFDPRTQNILFSTDYETHEFHLPSGVKSLNVQKASTERITSNATSDLNIKVDG
                     RAIVRGNEGVFIMGKTIEFHMGGNMELKAENSIILNGSVMVSTTRLPSSSSGDQLGSGD
                     WVRYKLCMCADGTLFKVQVTSQNMGCQISDNPCGNTH"
     misc_feature    41..136
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16585.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    236..298
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16585.1);
                     transmembrane region"
     misc_feature    512..514
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q16585.1); glycosylation site"
     misc_feature    671..673
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q16585.1); glycosylation site"
     misc_feature    812..814
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16585.1); glycosylation site"
     regulatory      1234..1239
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /note="hexamer: AATAAA"
     polyA_site      1258
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
     regulatory      4229..4234
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /note="hexamer: AATAAA"
     polyA_site      4248
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /note="major polyA site"
ORIGIN
        1 acagtcgggc ggggagctcg gcggcggcgg gcgcgggaag atggcggcag cggcggcggc
       61 ggctgcagaa cagcaaagtt ccaatggtcc tgtaaagaag tccatgcgtg agaaggctgt
      121 tgagagaagg agtgtcaata aagagcacaa cagtaacttt aaagctggat acattccgat
      181 tgatgaagat cgtctccaca aaacagggtt gagaggaaga aagggcaatt tagccatctg
      241 tgtgattatc ctcttgttta tcctggctgt catcaattta ataataacac ttgttatttg
      301 ggccgtgatt cgcattggac caaatggctg tgatagtatg gagtttcatg aaagtggcct
      361 gcttcgattt aagcaagtat ctgacatggg agtgatccac cctctttata aaagcacagt
      421 aggaggaagg cgaaatgaaa atttggtcat cactggcaac aaccagccta ttgtttttca
      481 gcaagggaca acaaagctca gtgtagaaaa caacaaaact tctattacaa gtgacatcgg
      541 catgcagttt tttgacccga ggactcaaaa tatcttattc agcacagact atgaaactca
      601 tgagtttcat ttgccaagtg gagtgaaaag tttgaatgtt caaaaggcat ctactgaaag
      661 gattaccagc aatgctacca gtgatttaaa tataaaagtt gatgggcgtg ctattgtgcg
      721 tggaaatgaa ggtgtattca ttatgggcaa aaccattgaa tttcacatgg gtggtaatat
      781 ggagttaaag gcggaaaaca gtatcatcct aaatggatct gtgatggtca gcaccacccg
      841 cctacccagt tcctccagtg gagaccagtt gggtagtggt gactgggtac gctacaagct
      901 ctgcatgtgt gctgatggga cgctcttcaa ggtgcaagta accagccaga acatgggctg
      961 ccaaatctca gacaacccct gtggaaacac tcattaaaag aaccccagag gtcaccaaca
     1021 tgtttatatc ttgacttgac ttttttatgc atgcaaatca ttgtttttac agagtttgtg
     1081 ataactcata attattttaa tggcagagca ctgctgtatc tgttttatgg tctacatagt
     1141 taaaatcttc tcagagagcc taaattctaa tacattttat taatttatac taatcttcat
     1201 atttactgtt ctctaaaata attatgagaa gcaaataaaa tcaaaagtca tgtttaaaga
     1261 cgtgttttta aaattccact atcccttttc taaaggttaa aggtctgaag cagctgttta
     1321 gattcactgt aagtaaactt tggtaactct aatggggata gacccactta agatatttaa
     1381 aaaggtatgg catcagcgtt tcatgctctg ccttttagct tctaaaagga aagatgcaga
     1441 tttctagtgc attaagcctg agccatattc tcacatgcaa gtgaagtcat taaagaactt
     1501 tacatatgtg agatagaaac aatggttcct tagttttgca ctgggaagaa aatattttgt
     1561 aaaagaatgt ttatttgaaa taatgataac tatcaattgt tcacaatgtg gtggaaatta
     1621 aaacaccatc tcagctttaa cttttaaata ataatgataa ctatctttat tgagcatctt
     1681 ctacatccta ggcattgtcc taggcattgc atgtttatat ccccaattct caccacaacc
     1741 ctgcaagtag gtggtattat ccaagtttta cccattaaga aactgaagat cagagaagtt
     1801 aagaaacttg ctcaacatca tatagtaagt agcagagttg ggattggaat tcaggcatga
     1861 ctcaaacctg gatgtacttg attccaaatg ccatgttgtt ttcactctct gcactgactt
     1921 tttaattatt taaaactcta gaaagatgaa caaaggttaa tttaaactta cctaagaaga
     1981 tgagaatcaa acaaaacaga tatgcttact ctagttaaaa agaaaataaa tctcatgtca
     2041 gacccagaaa ggaccaatca ctgtccgatt gtaagctatg ttgggccaat tccaaaatat
     2101 tatacgatgg agaggtcaaa tttacctact tctgagttac ctcagtttcc caacaatgga
     2161 ccttggcaca ctggagtaac aatacataac agagttgcca agatatttat accctcagca
     2221 ctcggggcaa cacagtggaa agtggggagg ccatagaccc aaacaagttc tttgggccag
     2281 gcatggccta gtaagtacac catgcctcga aaataagtcc agaagcactg gactaaagag
     2341 tgctaatgca ggaaataata cacataattt ttaggtaagg ataataattt atctctgctc
     2401 ctaatattac tatcccattg taattattta taaccctcaa gccagttgat ttttaatata
     2461 tttgattgga aaagaactct ctggtattat taagactcac acagaatcag ggacagggcc
     2521 cccaaaggag tttgctgtaa aataggcagt agagttgtgg catgggccca accctgcatt
     2581 caagtgtaac agcattctgt cagggtcact ttgaattgtg cacataagaa aaccaataca
     2641 aaaaacaatt tgtattcaat attgtcacat ttctctctgg tagaaaaatc aaatacctta
     2701 gagattatga agtcattaat ttatactgaa attggattga cttactacct aacactgagc
     2761 gctgttttta aatgaaaaga atgagattta taaccacttg agtgttattg cagtgatatt
     2821 tgaactcatt tgaatatatt cagtatcatt taatgtctga attcagaaaa aaatgccgaa
     2881 atttttattc agatggtcca taaattaaat tgcatattca ttacttatct gctctattta
     2941 gatttatttt aaaagtttat ttaagtaaat atttttataa aaaccagaaa acactgtatt
     3001 acaaaatatt atttattaaa tgtagttcag gaaataatct atttttactc ttttttggga
     3061 aatacttgtg tttttgatac atctccatga agttcttttg agaggagagg ctattttgat
     3121 gtttttatac aactgaaggt taacagccat agcattttat gatactttac aggtagtcct
     3181 ggctttttcc ctgaaacata agcttggaaa atctattaga aagcagaaca gggcaaactc
     3241 tccattttac ttatggcttt tctaattttt aattaattaa tttatttttt tgagacagag
     3301 tcttgttctg tcgccaggct ggagtgcagt ggcacaatct cggctctcgg ctcactgcaa
     3361 cctctgcctc ccaggttcaa gcgattctcc tgcctcagcc tcccgagtac ctgggactac
     3421 aggcatgtgc cacagttccc ggctaatttt tgtattttta gtagagacgg ggtttcacca
     3481 tgttggccag gatggtctca atctcttgac ctcgtgatct gcctgccttg gcctcccaaa
     3541 gtgctgggat tacaggtgtg agccaccacg cctggccggc ttatttttat ccacagtaaa
     3601 tcttcagcaa ctcattgtct ccaccagata gtatttttct gtaaatgaaa tgctgacttc
     3661 gcctcttcct gctgtatgct catccctgca ctgagcacag atatgacaag cagtagccat
     3721 gggggaggtg ggtgacaaag ataggacccc gggagggggc gcaggtacat gctagtttca
     3781 attaccacag tattctagag acgggttgca atgacaaggg gggcaaatga aatcaatgca
     3841 agatttctta ataatgggca gacagaaaaa tgtaaaacca cacaaaacgg actgctgata
     3901 atattttaaa atatacttat ttgtcttctt tttgcattgt gaaaaaaaca aaataaattt
     3961 tgtgtgataa ttttgatgat gaaaggtgga agttctacct agatttgaat gagtgttttt
     4021 ttaagggaat gagaatgtca tggtgctaaa cctgacaaat aagagatcat tgaaatgctg
     4081 aaaattttaa cagtcttctt aaaagtattg agggggcaaa aattaccaat tatggtatac
     4141 aaaaataagc ctataaatgt gtttcacatt gctaacttga gtttcagttg attcagtttg
     4201 taataactag taatgagctt ctgtttacaa taaaaattct gtaaattg
//
LOCUS       NM_000233               3076 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens luteinizing hormone/choriogonadotropin receptor
            (LHCGR), mRNA.
ACCESSION   NM_000233
VERSION     NM_000233.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3076)
  AUTHORS   Makhdoomi MJ, Shah IA, Rashid R, Rashid A, Singh S, Shah ZA and
            Ganie MA.
  TITLE     Effect Modification of LHCGR Gene Variant (rs2293275) on
            Clinico-Biochemical Profile, and Levels of Luteinizing Hormone in
            Polycystic Ovary Syndrome Patients
  JOURNAL   Biochem Genet 61 (4), 1418-1432 (2023)
   PUBMED   36633772
  REMARK    GeneRIF: Effect Modification of LHCGR Gene Variant (rs2293275) on
            Clinico-Biochemical Profile, and Levels of Luteinizing Hormone in
            Polycystic Ovary Syndrome Patients.
REFERENCE   2  (bases 1 to 3076)
  AUTHORS   Lund M, Pearson AC, Sage MAG and Duffy DM.
  TITLE     Luteinizing hormone receptor promotes angiogenesis in ovarian
            endothelial cells of Macaca fascicularis and Homo sapiensdagger
  JOURNAL   Biol Reprod 108 (2), 258-268 (2023)
   PUBMED   36214501
  REMARK    GeneRIF: Luteinizing hormone receptor promotes angiogenesis in
            ovarian endothelial cells of Macaca fascicularis and Homo
            sapiensdagger.
REFERENCE   3  (bases 1 to 3076)
  AUTHORS   Singh S, Kaur M, Kaur R, Beri A and Kaur A.
  TITLE     Association analysis of LHCGR variants and polycystic ovary syndrome
            in Punjab: a case-control approach
  JOURNAL   BMC Endocr Disord 22 (1), 335 (2022)
   PUBMED   36585675
  REMARK    GeneRIF: Association analysis of LHCGR variants and polycystic ovary
            syndrome in Punjab: a case-control approach. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3076)
  AUTHORS   Pirtea P, de Ziegler D, Marin D, Sun L, Tao X, Ayoubi JM, Franasiak
            J and Scott RT Jr.
  TITLE     Gonadotropin receptor polymorphisms (FSHR N680S and LHCGR N312S) are
            not predictive of clinical outcome and live birth in assisted
            reproductive technology
  JOURNAL   Fertil Steril 118 (3), 494-503 (2022)
   PUBMED   35842313
  REMARK    GeneRIF: Gonadotropin receptor polymorphisms (FSHR N680S and LHCGR
            N312S) are not predictive of clinical outcome and live birth in
            assisted reproductive technology.
REFERENCE   5  (bases 1 to 3076)
  AUTHORS   Alla A, Ongoth FEM, Tahiri A, Karrou M, Rouf S, Benhaddou H, Kamaoui
            I, Mcelreavey K and Latrech H.
  TITLE     Novel homozygous inactivating mutation in the luteinizing hormone
            receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan
            family
  JOURNAL   J Pediatr Endocrinol Metab 35 (9), 1215-1221 (2022)
   PUBMED   35670320
  REMARK    GeneRIF: Novel homozygous inactivating mutation in the luteinizing
            hormone receptor gene (LHCGR) associated with 46, XY DSD in a
            Moroccan family. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3076)
  AUTHORS   Nagayama Y, Russo D, Wadsworth HL, Chazenbalk GD and Rapoport B.
  TITLE     Eleven amino acids (Lys-201 to Lys-211) and 9 amino acids (Gly-222
            to Leu-230) in the human thyrotropin receptor are involved in ligand
            binding
  JOURNAL   J Biol Chem 266 (23), 14926-14930 (1991)
   PUBMED   1651314
REFERENCE   7  (bases 1 to 3076)
  AUTHORS   Jia XC, Oikawa M, Bo M, Tanaka T, Ny T, Boime I and Hsueh AJ.
  TITLE     Expression of human luteinizing hormone (LH) receptor: interaction
            with LH and chorionic gonadotropin from human but not equine, rat,
            and ovine species
  JOURNAL   Mol Endocrinol 5 (6), 759-768 (1991)
   PUBMED   1922095
REFERENCE   8  (bases 1 to 3076)
  AUTHORS   Minegishi T, Nakamura K, Takakura Y, Miyamoto K, Hasegawa Y, Ibuki
            Y, Igarashi M and Minegish T [corrected to Minegishi T].
  TITLE     Cloning and sequencing of human LH/hCG receptor cDNA
  JOURNAL   Biochem Biophys Res Commun 172 (3), 1049-1054 (1990)
   PUBMED   2244890
  REMARK    Erratum:[Biochem Biophys Res Commun 1994 Jun 15;201(2):1057]
REFERENCE   9  (bases 1 to 3076)
  AUTHORS   Frazier AL, Robbins LS, Stork PJ, Sprengel R, Segaloff DL and Cone
            RD.
  TITLE     Isolation of TSH and LH/CG receptor cDNAs from human thyroid:
            regulation by tissue specific splicing
  JOURNAL   Mol Endocrinol 4 (8), 1264-1276 (1990)
   PUBMED   2293030
REFERENCE   10  (bases 1 to 3076)
  AUTHORS   Rousseau-Merck MF, Misrahi M, Atger M, Loosfelt H, Milgrom E and
            Berger R.
  TITLE     Localization of the human luteinizing hormone/choriogonadotropin
            receptor gene (LHCGR) to chromosome 2p21
  JOURNAL   Cytogenet Cell Genet 54 (1-2), 77-79 (1990)
   PUBMED   2249480
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M63108.1, S57793.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148874,
            SAMEA2149178 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000294954.12/ ENSP00000294954.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087816.4, S57793.1,
            AC073082.6 and BX101581.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000233.3.
            Summary: This gene encodes the receptor for both luteinizing
            hormone and choriogonadotropin. This receptor belongs to the
            G-protein coupled receptor 1 family, and its activity is mediated
            by G proteins which activate adenylate cyclase. Mutations in this
            gene result in disorders of male secondary sexual character
            development, including familial male precocious puberty, also known
            as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell
            adenoma with precocious puberty, and male pseudohermaphtoditism
            with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3076
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.3"
     gene            1..3076
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="luteinizing hormone/choriogonadotropin receptor"
                     /db_xref="GeneID:3973"
                     /db_xref="HGNC:HGNC:6585"
                     /db_xref="MIM:152790"
     CDS             54..2153
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="hypergonadotropic hypogonadism;
                     lutropin/choriogonadotropin receptor;
                     lutropin-choriogonadotropic hormone receptor"
                     /codon_start=1
                     /product="lutropin-choriogonadotropic hormone receptor
                     precursor"
                     /protein_id="NP_000224.2"
                     /db_xref="CCDS:CCDS1842.1"
                     /db_xref="GeneID:3973"
                     /db_xref="HGNC:HGNC:6585"
                     /db_xref="MIM:152790"
                     /translation="MKQRFSALQLLKLLLLLQPPLPRALREALCPEPCNCVPDGALRCP
                     GPTAGLTRLSLAYLPVKVIPSQAFRGLNEVIKIEISQIDSLERIEANAFDNLLNLSEIL
                     IQNTKNLRYIEPGAFINLPRLKYLSICNTGIRKFPDVTKVFSSESNFILEICDNLHITT
                     IPGNAFQGMNNESVTLKLYGNGFEEVQSHAFNGTTLTSLELKENVHLEKMHNGAFRGAT
                     GPKTLDISSTKLQALPSYGLESIQRLIATSSYSLKKLPSRETFVNLLEATLTYPSHCCA
                     FRNLPTKEQNFSHSISENFSKQCESTVRKVNNKTLYSSMLAESELSGWDYEYGFCLPKT
                     PRCAPEPDAFNPCEDIMGYDFLRVLIWLINILAIMGNMTVLFVLLTSRYKLTVPRFLMC
                     NLSFADFCMGLYLLLIASVDSQTKGQYYNHAIDWQTGSGCSTAGFFTVFASELSVYTLT
                     VITLERWHTITYAIHLDQKLRLRHAILIMLGGWLFSSLIAMLPLVGVSNYMKVSICFPM
                     DVETTLSQVYILTILILNVVAFFIICACYIKIYFAVRNPELMATNKDTKIAKKMAILIF
                     TDFTCMAPISFFAISAAFKVPLITVTNSKVLLVLFYPINSCANPFLYAIFTKTFQRDFF
                     LLLSKFGCCKRRAELYRRKDFSAYTSNCKNGFTGSNKPSQSTLKLSTLHCQGTALLDKT
                     RYTEC"
     sig_peptide     54..125
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    339..398
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="propagated from UniProtKB/Swiss-Prot (P22888.4);
                     Region: LRR 1"
     misc_feature    348..350
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P22888.4); glycosylation site"
     misc_feature    423..488
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="propagated from UniProtKB/Swiss-Prot (P22888.4);
                     Region: LRR 2"
     misc_feature    498..566
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="propagated from UniProtKB/Swiss-Prot (P22888.4);
                     Region: LRR 3"
     misc_feature    573..575
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P22888.4); glycosylation site"
     misc_feature    576..641
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="propagated from UniProtKB/Swiss-Prot (P22888.4);
                     Region: LRR 4"
     misc_feature    636..638
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P22888.4); glycosylation site"
     misc_feature    645..713
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="propagated from UniProtKB/Swiss-Prot (P22888.4);
                     Region: LRR 5"
     misc_feature    720..785
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="propagated from UniProtKB/Swiss-Prot (P22888.4);
                     Region: LRR 6"
     misc_feature    924..926
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P22888.4); glycosylation site"
     misc_feature    948..950
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P22888.4); glycosylation site"
     misc_feature    990..992
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P22888.4); glycosylation site"
     misc_feature    1044..1046
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000305|PubMed:11847099; propagated from
                     UniProtKB/Swiss-Prot (P22888.4); sulfatation site"
     misc_feature    1143..1208
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="propagated from UniProtKB/Swiss-Prot (P22888.4);
                     transmembrane region"
     misc_feature    1239..1301
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="propagated from UniProtKB/Swiss-Prot (P22888.4);
                     transmembrane region"
     misc_feature    1371..1439
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="propagated from UniProtKB/Swiss-Prot (P22888.4);
                     transmembrane region"
     misc_feature    1500..1568
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="propagated from UniProtKB/Swiss-Prot (P22888.4);
                     transmembrane region"
     misc_feature    1629..1700
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="propagated from UniProtKB/Swiss-Prot (P22888.4);
                     transmembrane region"
     misc_feature    1764..1835
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="propagated from UniProtKB/Swiss-Prot (P22888.4);
                     transmembrane region"
     misc_feature    1869..1934
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="propagated from UniProtKB/Swiss-Prot (P22888.4);
                     transmembrane region"
     regulatory      3049..3054
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="hexamer: AATAAA"
     polyA_site      3076
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="major polyA site"
ORIGIN
        1 actcagaggc cgtccaagac actggcaagc cgcagaagcc cagttcgccg gccatgaagc
       61 agcggttctc ggcgctgcag ctgctgaagc tgctgctgct gctgcagccg ccgctgccac
      121 gagcgctgcg cgaggcgctc tgccctgagc cctgcaactg cgtgcccgac ggcgccctgc
      181 gctgccccgg ccccacggcc ggtctcactc gactatcact tgcctacctc cctgtcaaag
      241 tgatcccatc tcaagctttc agaggactta atgaggtcat aaaaattgaa atctctcaga
      301 ttgattccct ggaaaggata gaagctaatg cctttgacaa cctcctcaat ttgtctgaaa
      361 tactgatcca gaacaccaaa aatctgagat acattgagcc cggagcattt ataaatcttc
      421 cccgattaaa atacttgagc atctgtaaca caggcatcag aaagtttcca gatgttacga
      481 aggtcttctc ctctgaatca aatttcattc tggaaatttg tgataactta cacataacca
      541 ccataccagg aaatgctttt caagggatga ataatgaatc tgtaacactc aaactatatg
      601 gaaatggatt tgaagaagta caaagtcatg cattcaatgg gacgacactg acttcactgg
      661 agctaaagga aaacgtacat ctggagaaga tgcacaatgg agccttccgt ggggccacag
      721 ggccgaaaac cttggatatt tcttccacca aattgcaggc cctgccgagc tatggcctag
      781 agtccattca gaggctaatt gccacgtcat cctattctct aaaaaaattg ccatcaagag
      841 aaacatttgt caatctcctg gaggccacgt tgacttaccc cagccactgc tgtgctttta
      901 gaaacttgcc aacaaaagaa cagaattttt cacattccat ttctgaaaac ttttccaaac
      961 aatgtgaaag cacagtaagg aaagtgaata acaaaacact ttattcttcc atgcttgctg
     1021 agagtgaact gagtggctgg gactatgaat atggtttctg cttacccaag acaccccgat
     1081 gtgctcctga accagatgct tttaatccct gtgaagatat tatgggctat gacttcctta
     1141 gggtcctgat ttggctgatt aatattctag ccatcatggg aaacatgact gttctttttg
     1201 ttctcctgac aagtcgttac aaacttacag tgcctcgttt tctcatgtgc aatctctcct
     1261 ttgcagactt ttgcatgggg ctctatctgc tgctcatagc ctcagttgat tcccaaacca
     1321 agggccagta ctataaccat gccatagact ggcagacagg gagtgggtgc agcactgctg
     1381 gctttttcac tgtattcgca agtgaacttt ctgtctacac cctcaccgtc atcactctag
     1441 aaagatggca caccatcacc tatgctattc acctggacca aaagctgcga ttaagacatg
     1501 ccattctgat tatgcttgga ggatggctct tttcttctct aattgctatg ttgccccttg
     1561 tcggtgtcag caattacatg aaggtcagta tttgcttccc catggatgtg gaaaccactc
     1621 tctcacaagt ctatatatta accatcctga ttctcaatgt ggtggccttc ttcataattt
     1681 gtgcttgcta cattaaaatt tattttgcag ttcgaaaccc agaattaatg gctaccaata
     1741 aagatacaaa gattgctaag aaaatggcaa tcctcatctt caccgatttc acctgcatgg
     1801 cacctatctc tttttttgcc atctcagctg ccttcaaagt acctcttatc acagtaacca
     1861 actctaaagt tttactggtt cttttttatc ccatcaattc ttgtgccaat ccatttctgt
     1921 atgcaatatt cactaagaca ttccaaagag atttctttct tttgctgagc aaatttggct
     1981 gctgtaaacg tcgggctgaa ctttatagaa ggaaagattt ttcagcttac acctccaact
     2041 gcaaaaatgg cttcactgga tcaaataagc cttctcaatc caccttgaag ttgtccacat
     2101 tgcactgtca aggtacagct ctcctagaca agactcgcta cacagagtgt taactgttac
     2161 atcagtaact gcattattga attgttctta aacctgtaaa aaaaaattac ctgtaccagt
     2221 aattttaaca taaagggttg gatttaggaa attatttatt tttaggtaca ttaggcaaga
     2281 gacctctacc tagtagaaag tgtagtctat gaccactgcc acactaaaaa ctatttgtca
     2341 ttgttacatg gcataaatac tgaagttgag agtgtttaga aatttttata gaaattttga
     2401 cacagtaatt ttgtttgatg aatcttttaa aaaactgagg aggtattttg catatctttt
     2461 ttttcatttt cgtaatttgt attgcattct ataaaaatat tagttcataa cagatcagaa
     2521 atttaaaata actggccttt ttcctcaggt agtttgaaaa acacactcta gagatgcact
     2581 gtccaatccg gtagccacta gccacatgtg gctaaattaa aattaaataa aatgagaaat
     2641 gtagtttctc agttgcacta gccacgtttc aagttctcaa tggctacgtg tgactagtgc
     2701 ttaccatact ggacagcaca gacacagaat attttcatca ccacagaaag ttctatctgt
     2761 tctattatag agacttttat ctatgcccta tctggattct acttatttat aatttaaggt
     2821 aaacatctga aagcacattt cagcctattt gcttagtgaa acattaagct gtagactgta
     2881 aactcctcgt gagtaggaac cctgtctcag tgcattttgt tttcctgctt cctacctcaa
     2941 gatcttggca atggtacact acaaatgtgc tgagttagaa ttactctgaa gttatgaaac
     3001 atataatgaa aacaattttt tctagagctt atatttttat ttgaatgaaa taaaatgttt
     3061 aaatatttaa aaataa
//
LOCUS       NM_000234               3125 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens DNA ligase 1 (LIG1), transcript variant 1, mRNA.
ACCESSION   NM_000234
VERSION     NM_000234.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3125)
  AUTHORS   Chang SM, Yang YC, Chen GL, Chen LH, Shen TC, Liu YF, Wang YC, Tsai
            CW, Hsia TC, Bau DT and Chang WS.
  TITLE     The Association of DNA Ligase 1 Rs20579 Polymorphism With Lung
            Cancer Risk Among Taiwanese
  JOURNAL   In Vivo 37 (4), 1504-1510 (2023)
   PUBMED   37369482
  REMARK    GeneRIF: The Association of DNA Ligase 1 Rs20579 Polymorphism With
            Lung Cancer Risk Among Taiwanese.
REFERENCE   2  (bases 1 to 3125)
  AUTHORS   Bhandari SK, Wiest N, Sallmyr A, Du R, Ferry L, Defossez PA and
            Tomkinson AE.
  TITLE     Unchanged PCNA and DNMT1 dynamics during replication in DNA ligase
            I-deficient cells but abnormal chromatin levels of non-replicative
            histone H1
  JOURNAL   Sci Rep 13 (1), 4363 (2023)
   PUBMED   36928068
  REMARK    GeneRIF: Unchanged PCNA and DNMT1 dynamics during replication in DNA
            ligase I-deficient cells but abnormal chromatin levels of
            non-replicative histone H1. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3125)
  AUTHORS   McNally JR, Ames AM, Admiraal SJ and O'Brien PJ.
  TITLE     Human DNA ligases I and III have stand-alone end-joining capability,
            but differ in ligation efficiency and specificity
  JOURNAL   Nucleic Acids Res 51 (2), 796-805 (2023)
   PUBMED   36625284
  REMARK    GeneRIF: Human DNA ligases I and III have stand-alone end-joining
            capability, but differ in ligation efficiency and specificity.
REFERENCE   4  (bases 1 to 3125)
  AUTHORS   Ali R, Alabdullah M, Algethami M, Alblihy A, Miligy I, Shoqafi A,
            Mesquita KA, Abdel-Fatah T, Chan SY, Chiang PW, Mongan NP, Rakha EA,
            Tomkinson AE and Madhusudan S.
  TITLE     Ligase 1 is a predictor of platinum resistance and its blockade is
            synthetically lethal in XRCC1 deficient epithelial ovarian cancers
  JOURNAL   Theranostics 11 (17), 8350-8361 (2021)
   PUBMED   34373746
  REMARK    GeneRIF: Ligase 1 is a predictor of platinum resistance and its
            blockade is synthetically lethal in XRCC1 deficient epithelial
            ovarian cancers. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3125)
  AUTHORS   Kamble P, Hall K, Chandak M, Tang Q and Caglayan M.
  TITLE     DNA ligase I fidelity mediates the mutagenic ligation of pol beta
            oxidized and mismatch nucleotide insertion products in base excision
            repair
  JOURNAL   J Biol Chem 296, 100427 (2021)
   PUBMED   33600799
  REMARK    GeneRIF: DNA ligase I fidelity mediates the mutagenic ligation of
            pol beta oxidized and mismatch nucleotide insertion products in base
            excision repair.
REFERENCE   6  (bases 1 to 3125)
  AUTHORS   Webster AD, Barnes DE, Arlett CF, Lehmann AR and Lindahl T.
  TITLE     Growth retardation and immunodeficiency in a patient with mutations
            in the DNA ligase I gene
  JOURNAL   Lancet 339 (8808), 1508-1509 (1992)
   PUBMED   1351188
REFERENCE   7  (bases 1 to 3125)
  AUTHORS   Barnes DE, Tomkinson AE, Lehmann AR, Webster AD and Lindahl T.
  TITLE     Mutations in the DNA ligase I gene of an individual with
            immunodeficiencies and cellular hypersensitivity to DNA-damaging
            agents
  JOURNAL   Cell 69 (3), 495-503 (1992)
   PUBMED   1581963
REFERENCE   8  (bases 1 to 3125)
  AUTHORS   Barnes DE, Kodama K, Tynan K, Trask BJ, Christensen M, De Jong PJ,
            Spurr NK, Lindahl T and Mohrenweiser HW.
  TITLE     Assignment of the gene encoding DNA ligase I to human chromosome
            19q13.2-13.3
  JOURNAL   Genomics 12 (1), 164-166 (1992)
   PUBMED   1733856
REFERENCE   9  (bases 1 to 3125)
  AUTHORS   Petrini JH, Huwiler KG and Weaver DT.
  TITLE     A wild-type DNA ligase I gene is expressed in Bloom's syndrome cells
  JOURNAL   Proc Natl Acad Sci U S A 88 (17), 7615-7619 (1991)
   PUBMED   1881902
REFERENCE   10  (bases 1 to 3125)
  AUTHORS   Lasko DD, Tomkinson AE and Lindahl T.
  TITLE     Mammalian DNA ligases. Biosynthesis and intracellular localization
            of DNA ligase I
  JOURNAL   J Biol Chem 265 (21), 12618-12622 (1990)
   PUBMED   2197279
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC108318.1, M36067.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000263274.12/ ENSP00000263274.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC108318.1.
            On Nov 23, 2018 this sequence version replaced NM_000234.2.
            Summary: This gene encodes a member of the ATP-dependent DNA ligase
            protein family. The encoded protein functions in DNA replication,
            recombination, and the base excision repair process. Mutations in
            this gene that lead to DNA ligase I deficiency result in
            immunodeficiency and increased sensitivity to DNA-damaging agents.
            Disruption of this gene may also be associated with a variety of
            cancers. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jan 2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3125
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..3125
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="DNA ligase 1"
                     /db_xref="GeneID:3978"
                     /db_xref="HGNC:HGNC:6598"
                     /db_xref="MIM:126391"
     misc_feature    63..65
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="upstream in-frame stop codon"
     CDS             162..2921
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /EC_number="6.5.1.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     polydeoxyribonucleotide synthase [ATP] 1; ligase I, DNA,
                     ATP-dependent"
                     /codon_start=1
                     /product="DNA ligase 1 isoform 1"
                     /protein_id="NP_000225.1"
                     /db_xref="CCDS:CCDS12711.1"
                     /db_xref="GeneID:3978"
                     /db_xref="HGNC:HGNC:6598"
                     /db_xref="MIM:126391"
                     /translation="MQRSIMSFFHPKKEGKAKKPEKEASNSSRETEPPPKAALKEWNGV
                     VSESDSPVKRPGRKAARVLGSEGEEEDEALSPAKGQKPALDCSQVSPPRPATSPENNAS
                     LSDTSPMDSSPSGIPKRRTARKQLPKRTIQEVLEEQSEDEDREAKRKKEEEEEETPKES
                     LTEAEVATEKEGEDGDQPTTPPKPLKTSKAETPTESVSEPEVATKQELQEEEEQTKPPR
                     RAPKTLSSFFTPRKPAVKKEVKEEEPGAPGKEGAAEGPLDPSGYNPAKNNYHPVEDACW
                     KPGQKVPYLAVARTFEKIEEVSARLRMVETLSNLLRSVVALSPPDLLPVLYLSLNHLGP
                     PQQGLELGVGDGVLLKAVAQATGRQLESVRAEAAEKGDVGLVAENSRSTQRLMLPPPPL
                     TASGVFSKFRDIARLTGSASTAKKIDIIKGLFVACRHSEARFIARSLSGRLRLGLAEQS
                     VLAALSQAVSLTPPGQEFPPAMVDAGKGKTAEARKTWLEEQGMILKQTFCEVPDLDRII
                     PVLLEHGLERLPEHCKLSPGIPLKPMLAHPTRGISEVLKRFEEAAFTCEYKYDGQRAQI
                     HALEGGEVKIFSRNQEDNTGKYPDIISRIPKIKLPSVTSFILDTEAVAWDREKKQIQPF
                     QVLTTRKRKEVDASEIQVQVCLYAFDLIYLNGESLVREPLSRRRQLLRENFVETEGEFV
                     FATSLDTKDIEQIAEFLEQSVKDSCEGLMVKTLDVDATYEIAKRSHNWLKLKKDYLDGV
                     GDTLDLVVIGAYLGRGKRAGRYGGFLLASYDEDSEELQAICKLGTGFSDEELEEHHQSL
                     KALVLPSPRPYVRIDGAVIPDHWLDPSAVWEVKCADLSLSPIYPAARGLVDSDKGISLR
                     FPRFIRVREDKQPEQATTSAQVACLYRKQSQIQNQQGEDSGSDPEDTY"
     misc_feature    162..971
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="propagated from UniProtKB/Swiss-Prot (P18858.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    300..302
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); phosphorylation site"
     misc_feature    306..308
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); phosphorylation site"
     misc_feature    312..314
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); phosphorylation site"
     misc_feature    357..359
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:17693683,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P18858.1);
                     phosphorylation site"
     misc_feature    387..389
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:17693683,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); phosphorylation site"
     misc_feature    582..584
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); phosphorylation site"
     misc_feature    744..746
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); phosphorylation site"
     misc_feature    756..758
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); phosphorylation site"
     misc_feature    762..764
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); phosphorylation site"
     misc_feature    780..782
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); phosphorylation site"
     misc_feature    837..839
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P37913; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); acetylation site"
     misc_feature    846..848
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); phosphorylation site"
     misc_feature    849..851
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); phosphorylation site"
     misc_feature    858..860
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); phosphorylation site"
     misc_feature    1074..1076
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Interaction with target DNA; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); other site"
     misc_feature    1506..1535
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="propagated from UniProtKB/Swiss-Prot (P18858.1);
                     Region: Interaction with target DNA"
     misc_feature    1929..1931
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Interaction with target DNA; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); other site"
     misc_feature    2085..2093
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="propagated from UniProtKB/Swiss-Prot (P18858.1);
                     Region: Interaction with target DNA"
     misc_feature    2469..2471
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Interaction with target DNA; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); other site"
     misc_feature    2544..2546
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Interaction with target DNA; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); other site"
     misc_feature    2553..2555
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); phosphorylation site"
     misc_feature    2562..2564
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); phosphorylation site"
     misc_feature    2616..2618
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); phosphorylation site"
     misc_feature    2892..2894
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (P18858.1);
                     phosphorylation site"
     misc_feature    2898..2900
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P18858.1); phosphorylation site"
     regulatory      3103..3108
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="hexamer: AATAAA"
     polyA_site      3125
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="major polyA site"
ORIGIN
        1 agacgtctgc gcgcgaatgc cgtggcgcga acttgggact gcagaggcgc gcctggcgga
       61 tctgagtgtg ttgcccgggc agcggcgcgc gggaccaacg caaggagcag ctgacagacg
      121 aagaaaagtg ctggacagga agggagaatt ctgacgccaa catgcagcga agtatcatgt
      181 catttttcca ccccaagaaa gagggtaaag caaagaagcc tgagaaggag gcatccaata
      241 gcagcagaga gacggagccc cctccaaagg cggcactgaa ggagtggaat ggagtggtgt
      301 ccgagagtga ctctccggtg aagaggccag ggaggaaggc ggcccgggtc ctgggcagcg
      361 aaggggaaga ggaggatgaa gcccttagcc ctgctaaagg ccagaagcct gccctggact
      421 gctcacaggt ctccccgccc cgtcctgcca catctcctga gaacaatgct tccctctctg
      481 acacctctcc catggacagt tccccatcag ggattccgaa gcgtcgcaca gctcggaagc
      541 agctcccgaa acggaccatt caggaagtcc tggaagagca gagtgaggac gaggacagag
      601 aagccaagag gaagaaggag gaggaagaag aggagacccc gaaagaaagc ctcacagagg
      661 ctgaagtggc cacagagaag gaaggagaag acggggacca gcccaccacg cctcccaagc
      721 ccctaaagac ctccaaagca gagaccccga cggaaagcgt ttcagagcct gaggtggcca
      781 cgaagcagga actgcaggag gaggaagagc agaccaagcc tccccgcaga gctcccaaga
      841 cgctcagcag cttcttcacc ccccggaagc cagcagtcaa aaaagaagtg aaggaagagg
      901 agccaggggc tccaggaaag gagggagctg ctgagggacc cctggatcca tctggttaca
      961 atcctgccaa gaacaactat catcccgtgg aagatgcctg ctggaaaccg ggccagaagg
     1021 ttccttacct ggctgtggcc cggacgtttg agaagatcga ggaggtgtct gctcggctcc
     1081 ggatggtgga gacgctgagc aacttgctgc gctccgtggt ggccctgtcg cctccagacc
     1141 tcctccctgt cctctacctc agcctcaacc accttgggcc accccagcag ggcctggagc
     1201 ttggcgtggg tgatggtgtc cttctcaagg cagtggccca ggccacaggt cggcagctgg
     1261 agtccgtccg ggctgaggca gccgagaaag gcgacgtggg gctggtggcc gagaacagcc
     1321 gcagcaccca gaggctcatg ctgccaccac ctccgctcac tgcctccggg gtcttcagca
     1381 agttccgcga catcgccagg ctcactggca gtgcttccac agccaagaag atagacatca
     1441 tcaaaggcct ctttgtggcc tgccgccact cagaagcccg gttcatcgct aggtccctga
     1501 gcggacggct gcgccttggg ctggcagagc agtcggtgct ggctgccctc tcccaggcag
     1561 tgagcctcac gcccccgggc caagaattcc caccagccat ggtggatgct gggaagggca
     1621 agacagcaga ggccagaaag acgtggctgg aggagcaagg catgatcctg aagcagacgt
     1681 tctgcgaggt tcccgacctg gaccgaatta tccccgtgct gctggagcac ggcctggaac
     1741 gtctcccgga gcactgcaag ctgagcccag ggattcccct gaaaccaatg ttggcccatc
     1801 ccacccgggg catcagcgag gtcctgaaac gctttgagga ggcagctttc acctgcgaat
     1861 acaaatatga cgggcagagg gcacagatcc acgccctgga aggcggggag gtgaagatct
     1921 tcagcaggaa tcaggaagac aacactggga agtacccgga catcatcagc cgcatcccca
     1981 agattaaact cccatcggtc acatccttca tcctggacac cgaagccgtg gcttgggacc
     2041 gggaaaagaa gcagatccag ccattccaag tgctcaccac ccgcaaacgc aaggaggtgg
     2101 atgcgtctga gatccaggtg caggtgtgtt tgtacgcctt cgacctcatc tacctcaatg
     2161 gagagtccct ggtacgtgag cccctttccc ggcgccggca gctgctccgg gagaactttg
     2221 tggagacaga gggcgagttt gtcttcgcca cctccctgga caccaaggac atcgagcaga
     2281 tcgccgagtt cctggagcag tcagtgaaag actcctgcga ggggctgatg gtgaagaccc
     2341 tggatgttga tgccacctac gagatcgcca agagatcgca caactggctc aagctgaaga
     2401 aggactacct tgatggcgtg ggtgacaccc tggacctggt ggtgatcggc gcctacctgg
     2461 gccgggggaa gcgggccggc cggtacgggg gcttcctgct ggcctcctac gacgaggaca
     2521 gtgaggagct gcaggccata tgcaagcttg gaactggctt cagtgatgag gagctggagg
     2581 agcatcacca gagcctcaag gcgctggtgc tgcccagccc acgcccttac gtgcggatag
     2641 atggcgctgt gattcccgac cactggctgg accccagcgc tgtgtgggag gtgaagtgcg
     2701 ctgacctctc cctctctccc atctaccctg ctgcgcgggg cctggtggat agtgacaagg
     2761 gcatctccct tcgcttccct cggtttattc gagtccgtga agacaagcag ccggagcagg
     2821 ccaccaccag tgctcaggtg gcctgtttgt accggaagca aagtcagatt cagaaccaac
     2881 aaggcgagga ctcaggctct gaccctgaag atacctacta agccctcgcc ctcctagggc
     2941 ctgggtacag ggcatgagtt ggacggaccc cagggttatt attgcctttg ctttttagca
     3001 aatctgctgt ggcaggctgt ggattttgag agtcagggga ggggtgtgtg tgtgaggggg
     3061 tggcttactc cggagtctgg gattcatccc gtcatttctt tcaataaata attattggat
     3121 agcta
//
LOCUS       NM_000235               2496 bp    mRNA    linear   PRI 27-SEP-2023
DEFINITION  Homo sapiens lipase A, lysosomal acid type (LIPA), transcript
            variant 2, mRNA.
ACCESSION   NM_000235
VERSION     NM_000235.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2496)
  AUTHORS   Balwani M, Balistreri W, D'Antiga L, Evans J, Ros E, Abel F and
            Wilson DP.
  TITLE     Lysosomal acid lipase deficiency manifestations in children and
            adults: Baseline data from an international registry
  JOURNAL   Liver Int 43 (7), 1537-1547 (2023)
   PUBMED   37222260
  REMARK    GeneRIF: Lysosomal acid lipase deficiency manifestations in children
            and adults: Baseline data from an international registry.
REFERENCE   2  (bases 1 to 2496)
  AUTHORS   Nantakeeratipat T, Fujihara C, Nogimori T, Matsumoto M, Yamamoto T
            and Murakami S.
  TITLE     Lysosomal acid lipase regulates bioenergetic process during the
            cytodifferentiation of human periodontal ligament cells
  JOURNAL   Biochem Biophys Res Commun 662, 84-92 (2023)
   PUBMED   37099814
  REMARK    GeneRIF: Lysosomal acid lipase regulates bioenergetic process during
            the cytodifferentiation of human periodontal ligament cells.
REFERENCE   3  (bases 1 to 2496)
  AUTHORS   Matsumoto M, Fujihara C, Nantakeeratipat T, Kitagaki J, Yamamoto Y,
            Yamada S, Kitamura M and Murakami S.
  TITLE     Lipase-a single-nucleotide polymorphism rs143793106 is associated
            with increased risk of aggressive periodontitis by negative
            influence on the cytodifferentiation of human periodontal ligament
            cells
  JOURNAL   J Periodontal Res 58 (1), 175-183 (2023)
   PUBMED   36494917
  REMARK    GeneRIF: Lipase-a single-nucleotide polymorphism rs143793106 is
            associated with increased risk of aggressive periodontitis by
            negative influence on the cytodifferentiation of human periodontal
            ligament cells.
REFERENCE   4  (bases 1 to 2496)
  AUTHORS   Kose E, Cagatay E, Yaras T, Kisa PT, Guler S, Gulten ZA, Akarsu M,
            Oktay Y, Kayali HA and Arslan N.
  TITLE     Could lysosomal acid lipase enzyme activity be used for clinical
            follow-up in cryptogenic cirrhosis?
  JOURNAL   Turk J Med Sci 52 (4), 1075-1084 (2022)
   PUBMED   36326406
  REMARK    GeneRIF: Could lysosomal acid lipase enzyme activity be used for
            clinical follow-up in cryptogenic cirrhosis?
REFERENCE   5  (bases 1 to 2496)
  AUTHORS   Hartmann K, Seweryn M and Sadee W.
  TITLE     Interpreting coronary artery disease GWAS results: A functional
            genomics approach assessing biological significance
  JOURNAL   PLoS One 17 (2), e0244904 (2022)
   PUBMED   35192625
  REMARK    GeneRIF: Interpreting coronary artery disease GWAS results: A
            functional genomics approach assessing biological significance.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2496)
  AUTHORS   Muntoni S, Wiebusch H, Funke H, Ros E, Seedorf U and Assmann G.
  TITLE     Homozygosity for a splice junction mutation in exon 8 of the gene
            encoding lysosomal acid lipase in a Spanish kindred with cholesterol
            ester storage disease (CESD)
  JOURNAL   Hum Genet 95 (5), 491-494 (1995)
   PUBMED   7759067
REFERENCE   7  (bases 1 to 2496)
  AUTHORS   Ameis D, Merkel M, Eckerskorn C and Greten H.
  TITLE     Purification, characterization and molecular cloning of human
            hepatic lysosomal acid lipase
  JOURNAL   Eur J Biochem 219 (3), 905-914 (1994)
   PUBMED   8112342
REFERENCE   8  (bases 1 to 2496)
  AUTHORS   Hoffman,E.P., Barr,M.L., Giovanni,M.A. and Murray,M.F.
  TITLE     Lysosomal Acid Lipase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   26225414
REFERENCE   9  (bases 1 to 2496)
  AUTHORS   Anderson RA and Sando GN.
  TITLE     Cloning and expression of cDNA encoding human lysosomal acid
            lipase/cholesteryl ester hydrolase. Similarities to gastric and
            lingual lipases
  JOURNAL   J Biol Chem 266 (33), 22479-22484 (1991)
   PUBMED   1718995
REFERENCE   10  (bases 1 to 2496)
  AUTHORS   Warner,T.G., Dambach,L.M., Shin,J.H. and O'Brien,J.S.
  TITLE     Purification of the lysosomal acid lipase from human liver and its
            role in lysosomal lipid hydrolysis
  JOURNAL   J Biol Chem 256 (6), 2952-2957 (1981)
   PUBMED   7204383
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC012287.1, M74775.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000336233.10/ ENSP00000337354.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA394611.1 and BC012287.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000235.3.
            Summary: This gene encodes lipase A, the lysosomal acid lipase
            (also known as cholesterol ester hydrolase). This enzyme functions
            in the lysosome to catalyze the hydrolysis of cholesteryl esters
            and triglycerides. Mutations in this gene can result in Wolman
            disease and cholesteryl ester storage disease. Alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Jan 2014].
            Transcript Variant: This variant (2) lacks an internal segment in
            the 5' UTR, as compared to variant 1. Variants 1 and 2 encode the
            same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2496
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.31"
     gene            1..2496
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /note="lipase A, lysosomal acid type"
                     /db_xref="GeneID:3988"
                     /db_xref="HGNC:HGNC:6617"
                     /db_xref="MIM:613497"
     CDS             41..1240
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /EC_number="3.1.1.13"
                     /note="isoform 1 precursor is encoded by transcript variant
                     2; cholesterol ester hydrolase; lysosomal acid lipase;
                     sterol esterase; lysosomal acid lipase/cholesteryl ester
                     hydrolase; cholesteryl esterase; acid cholesteryl ester
                     hydrolase; lipase A, lysosomal acid, cholesterol esterase"
                     /codon_start=1
                     /product="lysosomal acid lipase/cholesteryl ester hydrolase
                     isoform 1 precursor"
                     /protein_id="NP_000226.2"
                     /db_xref="CCDS:CCDS7401.1"
                     /db_xref="GeneID:3988"
                     /db_xref="HGNC:HGNC:6617"
                     /db_xref="MIM:613497"
                     /translation="MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWG
                     FPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSL
                     GFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKT
                     GQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDH
                     LIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYT
                     THSPAGTSVQNMLHWSQAVKFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVW
                     SGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ
                     "
     sig_peptide     41..109
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     110..1237
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /product="lysosomal acid lipase/cholesteryl ester hydrolase
                     isoform 1"
     regulatory      2466..2471
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /note="hexamer: AATAAA"
     polyA_site      2496
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /note="major polyA site"
ORIGIN
        1 actgcgactc gagacagcgg cccggcagga cagctccaga atgaaaatgc ggttcttggg
       61 gttggtggtc tgtttggttc tctggaccct gcattctgag gggtctggag ggaaactgac
      121 agctgtggat cctgaaacaa acatgaatgt gagtgaaatt atctcttact ggggattccc
      181 tagtgaggaa tacctagttg agacagaaga tggatatatt ctgtgcctta accgaattcc
      241 tcatgggagg aagaaccatt ctgacaaagg tcccaaacca gttgtcttcc tgcaacatgg
      301 cttgctggca gattctagta actgggtcac aaaccttgcc aacagcagcc tgggcttcat
      361 tcttgctgat gctggttttg acgtgtggat gggcaacagc agaggaaata cctggtctcg
      421 gaaacataag acactctcag tttctcagga tgaattctgg gctttcagtt atgatgagat
      481 ggcaaaatat gacctaccag cttccattaa cttcattctg aataaaactg gccaagaaca
      541 agtgtattat gtgggtcatt ctcaaggcac cactataggt tttatagcat tttcacagat
      601 ccctgagctg gctaaaagga ttaaaatgtt ttttgccctg ggtcctgtgg cttccgtcgc
      661 cttctgtact agccctatgg ccaaattagg acgattacca gatcatctca ttaaggactt
      721 atttggagac aaagaatttc ttccccagag tgcgtttttg aagtggctgg gtacccacgt
      781 ttgcactcat gtcatactga aggagctctg tggaaatctc tgttttcttc tgtgtggatt
      841 taatgagaga aatttaaata tgtctagagt ggatgtatat acaacacatt ctcctgctgg
      901 aacttctgtg caaaacatgt tacactggag ccaggctgtt aaattccaaa agtttcaagc
      961 ctttgactgg ggaagcagtg ccaagaatta ttttcattac aaccagagtt atcctcccac
     1021 atacaatgtg aaggacatgc ttgtgccgac tgcagtctgg agcgggggtc acgactggct
     1081 tgcagatgtc tacgacgtca atatcttact gactcagatc accaacttgg tgttccatga
     1141 gagcattccg gaatgggagc atcttgactt catttggggc ctggatgccc cttggaggct
     1201 ttataataaa attattaatc taatgaggaa atatcagtga aagctggact tgagctgtgt
     1261 accaccaagt caatgattat gtcatgtgaa aatgtgtttg cttcatttct gtaaaacact
     1321 tgtttttctt tcccaggtct tttgtttttt tatatccaag aaaatgataa ctttgaagat
     1381 gcccagttca ctctagtttc aattagaaac atactagcta ttttttcttt aattagggct
     1441 ggaataggaa gccagtgtct caaccatagt attgtctctt taagtctttt aaatatcact
     1501 gatgtgtaaa aaggtcatta tatccattct gtttttaaaa tttaaaatat attgactttt
     1561 tgcccttcat aggacaaagt aatatatgtg ttggaatttt aaaattgtgt tgtcattggt
     1621 aaatctgtca ctgacttaag cgaggtataa aagtacgcag ttttcatgtc cttgccttaa
     1681 agagctctct agtctaacgg tcttgtagtt agagatctaa atgacatttt atcatgtttt
     1741 cctgcagcag gtgcatagtc aaatccagaa atatcacagc tgtgccagta ataaggatgc
     1801 taacaattaa ttttatcaaa cctaactgtg acagctgtga tttgacacgt tttaattgct
     1861 caggttaaat gaaatagttt tccggcgtct tcaaaaacaa attgcactga taaaacaaaa
     1921 acaaaagtat gttttaaatg ctttgaagac tgatacactc aaccatctat attcatgagc
     1981 tctcaatttc atggcaggcc atagttctac ttatctgaga agcaaatccc tgtggagact
     2041 ataccactat tttttctgag attaatgtac tcttggagcc cgctactgtc gttattgatc
     2101 acatctgtgt gaagccaaag ccccgtggtt gcccatgaga agtgtccttg ttcattttca
     2161 cccaaatgaa gtgtgaacgt gatgttttcg gatgcaaact cagctcaggg attcattttg
     2221 tgtcttagtt ttatatgcat ccttattttt aatacacctg cttcacgtcc ctatgttggg
     2281 aagtccatat ttgtctgctt ttcttgcagc atcatttcct tacaatactg tccggtggac
     2341 aaaatgacaa ttgatatgtt tttctgatat aattacttta gctgcactaa cagtacaatg
     2401 cttgttaatg gttaatatag gcagggcgaa tactactttg taacttttaa agtcttaaac
     2461 ttttcaataa aattgagtga gacttatagg cccaaa
//
LOCUS       NM_000236               2559 bp    mRNA    linear   PRI 26-JUL-2023
DEFINITION  Homo sapiens lipase C, hepatic type (LIPC), mRNA.
ACCESSION   NM_000236
VERSION     NM_000236.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2559)
  AUTHORS   Zhang H, Li FY, Hao Y, Wang XM, Zhang J, Ma YL, Zeng H and Lin J.
  TITLE     [Identification and 3D architecture analysis of the LIPC gene
            mutation in a pedigree with familial hypercholesterolemia-like
            phenotype]
  JOURNAL   Zhonghua Xin Xue Guan Bing Za Zhi 51 (7), 716-721 (2023)
   PUBMED   37460425
  REMARK    GeneRIF: [Identification and 3D architecture analysis of the LIPC
            gene mutation in a pedigree with familial hypercholesterolemia-like
            phenotype].
REFERENCE   2  (bases 1 to 2559)
  AUTHORS   Deng R, Lu X, Hong C, Cai R, Wang P, Xiong L, Wang X, Chen Q and Lin
            J.
  TITLE     Downregulation of TUSC3 promotes EMT and hepatocellular carcinoma
            progression through LIPC/AKT axis
  JOURNAL   J Transl Med 20 (1), 485 (2022)
   PUBMED   36274132
  REMARK    GeneRIF: Downregulation of TUSC3 promotes EMT and hepatocellular
            carcinoma progression through LIPC/AKT axis. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 2559)
  AUTHORS   Dijk W, Di Filippo M, Kooijman S, van Eenige R, Rimbert A, Caillaud
            A, Thedrez A, Arnaud L, Pronk A, Garcon D, Sotin T, Lindenbaum P,
            Ozcariz Garcia E, Pais de Barros JP, Duvillard L, Si-Tayeb K, Amigo
            N, Le Questel JY, Rensen PCN, Le May C, Moulin P and Cariou B.
  TITLE     Identification of a Gain-of-Function LIPC Variant as a Novel Cause
            of Familial Combined Hypocholesterolemia
  JOURNAL   Circulation 146 (10), 724-739 (2022)
   PUBMED   35899625
  REMARK    GeneRIF: Identification of a Gain-of-Function LIPC Variant as a
            Novel Cause of Familial Combined Hypocholesterolemia.
REFERENCE   4  (bases 1 to 2559)
  AUTHORS   Liao YH, Er LK, Wu S, Ko YL and Teng MS.
  TITLE     Functional Haplotype of LIPC Induces Triglyceride-Mediated
            Suppression of HDL-C Levels According to Genome-Wide Association
            Studies
  JOURNAL   Genes (Basel) 12 (2), 148 (2021)
   PUBMED   33499410
  REMARK    GeneRIF: Functional Haplotype of LIPC Induces Triglyceride-Mediated
            Suppression of HDL-C Levels According to Genome-Wide Association
            Studies. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2559)
  AUTHORS   Seyedian SM, Bijanzadeh M, Ahmadi F and Haghighizadeh MH.
  TITLE     Association between Endothelial nitric oxide synthase and Hepatic
            lipase gene polymorphisms with the risk of coronary artery disease
            in Southern Iran population - A case control study
  JOURNAL   Nucleosides Nucleotides Nucleic Acids 40 (4), 423-433 (2021)
   PUBMED   33673789
  REMARK    GeneRIF: Association between Endothelial nitric oxide synthase and
            Hepatic lipase gene polymorphisms with the risk of coronary artery
            disease in Southern Iran population - A case control study.
REFERENCE   6  (bases 1 to 2559)
  AUTHORS   Hegele RA, Tu L and Connelly PW.
  TITLE     Human hepatic lipase mutations and polymorphisms
  JOURNAL   Hum Mutat 1 (4), 320-324 (1992)
   PUBMED   1301939
REFERENCE   7  (bases 1 to 2559)
  AUTHORS   Hegele RA, Little JA and Connelly PW.
  TITLE     Compound heterozygosity for mutant hepatic lipase in familial
            hepatic lipase deficiency
  JOURNAL   Biochem Biophys Res Commun 179 (1), 78-84 (1991)
   PUBMED   1883393
REFERENCE   8  (bases 1 to 2559)
  AUTHORS   Hegele RA, Vezina C, Moorjani S, Lupien PJ, Gagne C, Brun LD, Little
            JA and Connelly PW.
  TITLE     A hepatic lipase gene mutation associated with heritable lipolytic
            deficiency
  JOURNAL   J Clin Endocrinol Metab 72 (3), 730-732 (1991)
   PUBMED   1671786
REFERENCE   9  (bases 1 to 2559)
  AUTHORS   Ameis D, Stahnke G, Kobayashi J, McLean J, Lee G, Buscher M, Schotz
            MC and Will H.
  TITLE     Isolation and characterization of the human hepatic lipase gene
  JOURNAL   J Biol Chem 265 (12), 6552-6555 (1990)
   PUBMED   2324091
REFERENCE   10  (bases 1 to 2559)
  AUTHORS   Kinnunen,P.K. and Ehnolm,C.
  TITLE     Effect of serum and C-apoproteins from very low density lipoproteins
            on human postheparin plasma hepatic lipase
  JOURNAL   FEBS Lett 65 (3), 354-357 (1976)
   PUBMED   182536
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X07228.1, D83548.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2144335 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000299022.10/ ENSP00000299022.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315306.1, BC146659.1,
            AV645541.1, D83548.1, AI823349.1 and AC018904.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000236.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2559
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3"
     gene            1..2559
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /note="lipase C, hepatic type"
                     /db_xref="GeneID:3990"
                     /db_xref="HGNC:HGNC:6619"
                     /db_xref="MIM:151670"
     misc_feature    31..33
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /note="upstream in-frame stop codon"
     CDS             43..1542
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /EC_number="3.1.1.3"
                     /EC_number="3.1.1.5"
                     /EC_number="3.1.1.32"
                     /note="hepatic triacylglycerol lipase; hepatic lipase;
                     lipase member C; lipase, hepatic; Triacylglycerol lipase;
                     phospholipase A1; lysophospholipase"
                     /codon_start=1
                     /product="hepatic triacylglycerol lipase precursor"
                     /protein_id="NP_000227.2"
                     /db_xref="CCDS:CCDS10166.1"
                     /db_xref="GeneID:3990"
                     /db_xref="HGNC:HGNC:6619"
                     /db_xref="MIM:151670"
                     /translation="MDTSPLCFSILLVLCIFIQSSALGQSLKPEPFGRRAQAVETNKTL
                     HEMKTRFLLFGETNQGCQIRINHPDTLQECGFNSSLPLVMIIHGWSVDGVLENWIWQMV
                     AALKSQPAQPVNVGLVDWITLAHDHYTIAVRNTRLVGKEVAALLRWLEESVQLSRSHVH
                     LIGYSLGAHVSGFAGSSIGGTHKIGRITGLDAAGPLFEGSAPSNRLSPDDANFVDAIHT
                     FTREHMGLSVGIKQPIGHYDFYPNGGSFQPGCHFLELYRHIAQHGFNAITQTIKCSHER
                     SVHLFIDSLLHAGTQSMAYPCGDMNSFSQGLCLSCKKGRCNTLGYHVRQEPRSKSKRLF
                     LVTRAQSPFKVYHYQFKIQFINQTETPIQTTFTMSLLGTKEKMQKIPITLGKGIASNKT
                     YSFLITLDVDIGELIMIKFKWENSAVWANVWDTVQTIIPWSTGPRHSGLVLKTIRVKAG
                     ETQQRMTFCSENTDDLLLRPTQEKIFVKCEIKSKTSKRKIR"
     sig_peptide     43..108
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     109..1539
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /product="hepatic triacylglycerol lipase"
     misc_feature    166..168
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11150.3); glycosylation site"
     misc_feature    274..276
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11150.3); glycosylation site"
     misc_feature    802..873
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /note="propagated from UniProtKB/Swiss-Prot (P11150.3);
                     Region: Essential for determining substrate specificity.
                     /evidence=ECO:0000269|PubMed:7592706"
     misc_feature    1126..1128
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11150.3); glycosylation site"
     misc_feature    1231..1233
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11150.3); glycosylation site"
     regulatory      1568..1573
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /note="hexamer: AATAAA"
     polyA_site      1589
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /note="major polyA site"
     regulatory      2536..2541
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /note="hexamer: AATAAA"
     polyA_site      2559
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
ORIGIN
        1 agaaattacc aagaaagcct ggaccccggg tgaaacggag aaatggacac aagtcccctg
       61 tgtttctcca ttctgttggt tttatgcatc tttatccaat caagtgccct tggacaaagc
      121 ctgaaaccag agccatttgg aagaagagct caagctgttg aaacaaacaa aacgctgcat
      181 gagatgaaga ccagattcct gctctttgga gaaaccaatc agggctgtca gattcgaatc
      241 aatcatccgg acacgttaca ggagtgcggc ttcaactcct ccctgcctct ggtgatgata
      301 atccacgggt ggtcggtgga cggcgtgcta gaaaactgga tctggcagat ggtggccgcg
      361 ctgaagtctc agccggccca gccagtgaac gtggggctgg tggactggat caccctggcc
      421 cacgaccact acaccatcgc cgtccgcaac acccgccttg tgggcaagga ggtcgcggct
      481 cttctccggt ggctggagga atctgtgcaa ctctctcgaa gccatgttca cctaattggg
      541 tacagcctgg gtgcacacgt gtcaggattt gccggcagtt ccatcggtgg aacgcacaag
      601 attgggagaa tcacagggct ggatgccgcg ggacctttgt ttgagggaag tgcccccagc
      661 aatcgtcttt ctccagatga tgccaatttt gtggatgcca ttcatacctt tacccgggag
      721 cacatgggcc tgagcgtggg catcaaacag cccataggac actatgactt ctatcccaac
      781 gggggctcct tccagcctgg ctgccacttc ctagagctct acagacatat tgcccagcac
      841 ggcttcaatg ccatcaccca gaccataaaa tgctcccacg agcgatcggt gcaccttttc
      901 atcgactcct tgctgcacgc cggcacgcag agcatggcct acccgtgtgg tgacatgaac
      961 agcttcagcc agggcctgtg cctgagctgc aagaagggcc gctgcaacac gctgggctac
     1021 cacgtccgcc aggagccgcg gagcaagagc aagaggctct tcctcgtaac gcgagcccag
     1081 tcccccttca aagtttatca ttaccagttc aagatccagt tcatcaacca aactgagaca
     1141 ccaatacaaa caacttttac catgtcacta ctcggaacaa aagagaaaat gcagaaaatt
     1201 cccatcactc tgggcaaagg aattgctagt aataaaacgt attcctttct tatcacgctg
     1261 gatgtggata tcggcgagct gatcatgatc aagttcaagt gggaaaacag tgcagtgtgg
     1321 gccaatgtct gggacacggt ccagaccatc atcccatgga gcacagggcc gcgccactca
     1381 ggcctcgttc tgaagacgat cagagtcaaa gcaggagaaa cccagcaaag aatgacattt
     1441 tgttcagaaa acacagatga cctactactt cgcccaaccc aggaaaaaat cttcgtgaaa
     1501 tgtgaaataa agtctaaaac atcaaagcga aagatcagat gagatttaat gaagacccag
     1561 tgtaaagaat aaatgaatct tactccttat ctggaatggc tgccttattt agaagccaaa
     1621 attacataaa gaatctcaca caaagcttaa ataaagttta gatttaaggg gggtatgttt
     1681 cactctcata aactgagctt ttaaaaacga tatgatataa ctattttcca gtatcagtac
     1741 aaccaaaaat gtcccaattt tatctctggt taaatgttaa tatatgcaaa taagtacaaa
     1801 tgcaagagcc attttagatc tgttgttcta atttacaatg tcttttataa ttaagtttcc
     1861 cacatgtcct tgctagttta ttatgaccca tttttgaacc atgctagaaa gatacttttt
     1921 tattaggtaa ctagtgcttc aataaagcaa gattctaatt aatcaccact agttgtgtat
     1981 accaaataca catcctttaa gacaatacag ttcttaaaag aagaaaaatt ataattattc
     2041 taatatttat acaaatcata taacgatttc acagaaccaa acacttacaa gtagaattct
     2101 actaaaacta cttgtgataa cagtgaaagc tagacatgtg gtcattttaa taatggaatt
     2161 acaaattaaa taaacataat tattatatct tactaatgct tgcaacaaaa gctaatttta
     2221 aaaacttgga atgtctcaaa gcatttgcta tggactgaat gtttgagtca ccccaaaatt
     2281 catatgctga aatctaatcc ccaatgtgat ggtgtttgga ggtggggcct ttgggaggtg
     2341 atcaggtcat gagggtggag ccctcataag tgggattagt gcccttatag gggataaagg
     2401 atcagaactc tctgccatgt gcggatatga gaaggcaact atatgcaaac caggaagttg
     2461 accctcacct ggaagtagac taccagatct gctggcacct ttatcttgga cttctcagct
     2521 tccagaactg tgagaaataa atgtttcttg tttaagcca
//
LOCUS       NM_000237               3565 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens lipoprotein lipase (LPL), mRNA.
ACCESSION   NM_000237
VERSION     NM_000237.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3565)
  AUTHORS   Zhang G, Hu Y, Yang Q, Pu N, Li G, Zhang J, Tong Z, Masson E, Cooper
            DN, Chen JM and Li W.
  TITLE     Frameshift coding sequence variants in the LPL gene: identification
            of two novel events and exploration of the genotype-phenotype
            relationship for variants reported to date
  JOURNAL   Lipids Health Dis 22 (1), 128 (2023)
   PUBMED   37568214
  REMARK    GeneRIF: Frameshift coding sequence variants in the LPL gene:
            identification of two novel events and exploration of the
            genotype-phenotype relationship for variants reported to date.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3565)
  AUTHORS   Hu Y, Zhang G, Yang Q, Pu N, Li K, Li B, Cooper DN, Tong Z, Li W and
            Chen JM.
  TITLE     The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense
            variant exerts a mild effect on protein function
  JOURNAL   Lipids Health Dis 22 (1), 119 (2023)
   PUBMED   37550668
  REMARK    GeneRIF: The East Asian-specific LPL p.Ala288Thr (c.862G > A)
            missense variant exerts a mild effect on protein function.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3565)
  AUTHORS   Silbernagel G, Chen YQ, Rief M, Kleber ME, Hoffmann MM, Stojakovic
            T, Stang A, Sarzynski MA, Bouchard C, Marz W, Qian YW, Scharnagl H
            and Konrad RJ.
  TITLE     Inverse association between apolipoprotein C-II and cardiovascular
            mortality: role of lipoprotein lipase activity modulation
  JOURNAL   Eur Heart J 44 (25), 2335-2345 (2023)
   PUBMED   37155355
  REMARK    GeneRIF: Inverse association between apolipoprotein C-II and
            cardiovascular mortality: role of lipoprotein lipase activity
            modulation.
REFERENCE   4  (bases 1 to 3565)
  AUTHORS   Fraga LN, Milenkovic D, Coutinho CP, Rozenbaum AC, Lajolo FM and
            Hassimotto NMA.
  TITLE     Interaction between APOE, APOA1, and LPL Gene Polymorphisms and
            Variability in Changes in Lipid and Blood Pressure following Orange
            Juice Intake: A Pilot Study
  JOURNAL   Mol Nutr Food Res 67 (13), e2200847 (2023)
   PUBMED   37128695
  REMARK    GeneRIF: Interaction between APOE, APOA1, and LPL Gene Polymorphisms
            and Variability in Changes in Lipid and Blood Pressure following
            Orange Juice Intake: A Pilot Study.
REFERENCE   5  (bases 1 to 3565)
  AUTHORS   Kwak J, Hong G, Lee KJ, Kim CG and Shin D.
  TITLE     Effect of the Interaction between Seaweed Intake and LPL
            Polymorphisms on Metabolic Syndrome in Middle-Aged Korean Adults
  JOURNAL   Nutrients 15 (9), 2066 (2023)
   PUBMED   37432202
  REMARK    GeneRIF: Effect of the Interaction between Seaweed Intake and LPL
            Polymorphisms on Metabolic Syndrome in Middle-Aged Korean Adults.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3565)
  AUTHORS   Burnett,J.R., Hooper,A.J. and Hegele,R.A.
  TITLE     Familial Lipoprotein Lipase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301485
REFERENCE   7  (bases 1 to 3565)
  AUTHORS   Chappell DA, Fry GL, Waknitz MA, Iverius PH, Williams SE and
            Strickland DK.
  TITLE     The low density lipoprotein receptor-related protein/alpha
            2-macroglobulin receptor binds and mediates catabolism of bovine
            milk lipoprotein lipase
  JOURNAL   J Biol Chem 267 (36), 25764-25767 (1992)
   PUBMED   1281473
REFERENCE   8  (bases 1 to 3565)
  AUTHORS   Hata A, Ridinger DN, Sutherland SD, Emi M, Kwong LK, Shuhua J,
            Lubbers A, Guy-Grand B, Basdevant A, Iverius PH et al.
  TITLE     Missense mutations in exon 5 of the human lipoprotein lipase gene.
            Inactivation correlates with loss of dimerization
  JOURNAL   J Biol Chem 267 (28), 20132-20139 (1992)
   PUBMED   1400331
REFERENCE   9  (bases 1 to 3565)
  AUTHORS   Emmerich J, Beg OU, Peterson J, Previato L, Brunzell JD, Brewer HB
            Jr and Santamarina-Fojo S.
  TITLE     Human lipoprotein lipase. Analysis of the catalytic triad by
            site-directed mutagenesis of Ser-132, Asp-156, and His-241
  JOURNAL   J Biol Chem 267 (6), 4161-4165 (1992)
   PUBMED   1371284
REFERENCE   10  (bases 1 to 3565)
  AUTHORS   Kinnunen,P.K. and Ehnolm,C.
  TITLE     Effect of serum and C-apoproteins from very low density lipoproteins
            on human postheparin plasma hepatic lipase
  JOURNAL   FEBS Lett 65 (3), 354-357 (1976)
   PUBMED   182536
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M15856.1, AK290290.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000650287.1/ ENSP00000497642.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK092286.1, M15856.1 and
            AC100802.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 22, 2018 this sequence version replaced NM_000237.2.
            Summary: LPL encodes lipoprotein lipase, which is expressed in
            heart, muscle, and adipose tissue. LPL functions as a homodimer,
            and has the dual functions of triglyceride hydrolase and
            ligand/bridging factor for receptor-mediated lipoprotein uptake.
            Severe mutations that cause LPL deficiency result in type I
            hyperlipoproteinemia, while less extreme mutations in LPL are
            linked to many disorders of lipoprotein metabolism. [provided by
            RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3565
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     gene            1..3565
                     /gene="LPL"
                     /gene_synonym="HDLCQ11; LIPD"
                     /note="lipoprotein lipase"
                     /db_xref="GeneID:4023"
                     /db_xref="HGNC:HGNC:6677"
                     /db_xref="MIM:609708"
     CDS             189..1616
                     /gene="LPL"
                     /gene_synonym="HDLCQ11; LIPD"
                     /EC_number="3.1.1.34"
                     /EC_number="3.1.1.32"
                     /note="phospholipase A1"
                     /codon_start=1
                     /product="lipoprotein lipase precursor"
                     /protein_id="NP_000228.1"
                     /db_xref="CCDS:CCDS6012.1"
                     /db_xref="GeneID:4023"
                     /db_xref="HGNC:HGNC:6677"
                     /db_xref="MIM:609708"
                     /translation="MESKALLVLTLAVWLQSLTASRGGVAAADQRRDFIDIESKFALRT
                     PEDTAEDTCHLIPGVAESVATCHFNHSSKTFMVIHGWTVTGMYESWVPKLVAALYKREP
                     DSNVIVVDWLSRAQEHYPVSAGYTKLVGQDVARFINWMEEEFNYPLDNVHLLGYSLGAH
                     AAGIAGSLTNKKVNRITGLDPAGPNFEYAEAPSRLSPDDADFVDVLHTFTRGSPGRSIG
                     IQKPVGHVDIYPNGGTFQPGCNIGEAIRVIAERGLGDVDQLVKCSHERSIHLFIDSLLN
                     EENPSKAYRCSSKEAFEKGLCLSCRKNRCNNLGYEINKVRAKRSSKMYLKTRSQMPYKV
                     FHYQVKIHFSGTESETHTNQAFEISLYGTVAESENIPFTLPEVSTNKTYSFLIYTEVDI
                     GELLMLKLKWKSDSYFSWSDWWSSPGFAIQKIRVKAGETQKKVIFCSREKVSHLQKGKA
                     PAVFVKCHDKSLNKKSG"
     sig_peptide     189..269
                     /gene="LPL"
                     /gene_synonym="HDLCQ11; LIPD"
                     /note="/evidence=ECO:0000269|PubMed:2340307; propagated
                     from UniProtKB/Swiss-Prot (P06858.1)"
     mat_peptide     270..1613
                     /gene="LPL"
                     /gene_synonym="HDLCQ11; LIPD"
                     /product="Lipoprotein lipase. /id=PRO_0000017775"
                     /note="propagated from UniProtKB/Swiss-Prot (P06858.1)"
     misc_feature    282..347
                     /gene="LPL"
                     /gene_synonym="HDLCQ11; LIPD"
                     /note="propagated from UniProtKB/Swiss-Prot (P06858.1);
                     Region: Interaction with GPIHBP1.
                     /evidence=ECO:0000269|PubMed:30559189"
     misc_feature    396..398
                     /gene="LPL"
                     /gene_synonym="HDLCQ11; LIPD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:18780401,
                     ECO:0000269|PubMed:30559189, ECO:0007744|PDB:6E7K;
                     propagated from UniProtKB/Swiss-Prot (P06858.1);
                     glycosylation site"
     misc_feature    915..986
                     /gene="LPL"
                     /gene_synonym="HDLCQ11; LIPD"
                     /note="propagated from UniProtKB/Swiss-Prot (P06858.1);
                     Region: Essential for determining substrate specificity.
                     /evidence=ECO:0000269|PubMed:7592706"
     misc_feature    1344..1346
                     /gene="LPL"
                     /gene_synonym="HDLCQ11; LIPD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30559189,
                     ECO:0007744|PDB:6E7K; propagated from UniProtKB/Swiss-Prot
                     (P06858.1); glycosylation site"
     misc_feature    1437..1451
                     /gene="LPL"
                     /gene_synonym="HDLCQ11; LIPD"
                     /note="propagated from UniProtKB/Swiss-Prot (P06858.1);
                     Region: Important for interaction with lipoprotein
                     particles. /evidence=ECO:0000269|PubMed:27929370"
     misc_feature    1476..1490
                     /gene="LPL"
                     /gene_synonym="HDLCQ11; LIPD"
                     /note="propagated from UniProtKB/Swiss-Prot (P06858.1);
                     Region: Important for heparin binding.
                     /evidence=ECO:0000269|PubMed:11342582"
     misc_feature    1515..1589
                     /gene="LPL"
                     /gene_synonym="HDLCQ11; LIPD"
                     /note="propagated from UniProtKB/Swiss-Prot (P06858.1);
                     Region: Interaction with GPIHBP1.
                     /evidence=ECO:0000269|PubMed:26725083,
                     ECO:0000269|PubMed:30559189"
     regulatory      3537..3542
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LPL"
                     /gene_synonym="HDLCQ11; LIPD"
                     /note="hexamer: AATAAA"
     polyA_site      3565
                     /gene="LPL"
                     /gene_synonym="HDLCQ11; LIPD"
                     /note="major polyA site"
ORIGIN
        1 gtcagactcg attccccctc ttcctcctcc tcaagggaaa gctgcccact tctagctgcc
       61 ctgccatccc ctttaaaggg cgacttgctc agcgccaaac cgcggctcca gccctctcca
      121 gcctccggct cagccggctc atcagtcggt ccgcgccttg cagctcctcc agagggacgc
      181 gccccgagat ggagagcaaa gccctgctcg tgctgactct ggccgtgtgg ctccagagtc
      241 tgaccgcctc ccgcggaggg gtggccgccg ccgaccaaag aagagatttt atcgacatcg
      301 aaagtaaatt tgccctaagg acccctgaag acacagctga ggacacttgc cacctcattc
      361 ccggagtagc agagtccgtg gctacctgtc atttcaatca cagcagcaaa accttcatgg
      421 tgatccatgg ctggacggta acaggaatgt atgagagttg ggtgccaaaa cttgtggccg
      481 ccctgtacaa gagagaacca gactccaatg tcattgtggt ggactggctg tcacgggctc
      541 aggagcatta cccagtgtcc gcgggctaca ccaaactggt gggacaggat gtggcccggt
      601 ttatcaactg gatggaggag gagtttaact accctctgga caatgtccat ctcttgggat
      661 acagccttgg agcccatgct gctggcattg caggaagtct gaccaataag aaagtcaaca
      721 gaattactgg cctcgatcca gctggaccta actttgagta tgcagaagcc ccgagtcgtc
      781 tttctcctga tgatgcagat tttgtagacg tcttacacac attcaccaga gggtcccctg
      841 gtcgaagcat tggaatccag aaaccagttg ggcatgttga catttacccg aatggaggta
      901 cttttcagcc aggatgtaac attggagaag ctatccgcgt gattgcagag agaggacttg
      961 gagatgtgga ccagctagtg aagtgctccc acgagcgctc cattcatctc ttcatcgact
     1021 ctctgttgaa tgaagaaaat ccaagtaagg cctacaggtg cagttccaag gaagcctttg
     1081 agaaagggct ctgcttgagt tgtagaaaga accgctgcaa caatctgggc tatgagatca
     1141 ataaagtcag agccaaaaga agcagcaaaa tgtacctgaa gactcgttct cagatgccct
     1201 acaaagtctt ccattaccaa gtaaagattc atttttctgg gactgagagt gaaacccata
     1261 ccaatcaggc ctttgagatt tctctgtatg gcaccgtggc cgagagtgag aacatcccat
     1321 tcactctgcc tgaagtttcc acaaataaga cctactcctt cctaatttac acagaggtag
     1381 atattggaga actactcatg ttgaagctca aatggaagag tgattcatac tttagctggt
     1441 cagactggtg gagcagtccc ggcttcgcca ttcagaagat cagagtaaaa gcaggagaga
     1501 ctcagaaaaa ggtgatcttc tgttctaggg agaaagtgtc tcatttgcag aaaggaaagg
     1561 cacctgcggt atttgtgaaa tgccatgaca agtctctgaa taagaagtca ggctgaaact
     1621 gggcgaatct acagaacaaa gaacggcatg tgaattctgt gaagaatgaa gtggaggaag
     1681 taacttttac aaaacatacc cagtgtttgg ggtgtttcaa aagtggattt tcctgaatat
     1741 taatcccagc cctacccttg ttagttattt taggagacag tctcaagcac taaaaagtgg
     1801 ctaattcaat ttatggggta tagtggccaa atagcacatc ctccaacgtt aaaagacagt
     1861 ggatcatgaa aagtgctgtt ttgtcctttg agaaagaaat aattgtttga gcgcagagta
     1921 aaataaggct ccttcatgtg gcgtattggg ccatagccta taattggtta gaacctccta
     1981 ttttaattgg aattctggat ctttcggact gaggccttct caaactttac tctaagtctc
     2041 caagaataca gaaaatgctt ttccgcggca cgaatcagac tcatctacac agcagtatga
     2101 atgatgtttt agaatgattc cctcttgcta ttggaatgtg gtccagacgt caaccaggaa
     2161 catgtaactt ggagagggac gaagaaaggg tctgataaac acagaggttt taaacagtcc
     2221 ctaccattgg cctgcatcat gacaaagtta caaattcaag gagatataaa atctagatca
     2281 attaattctt aataggcttt atcgtttatt gcttaatccc tctctccccc ttcttttttg
     2341 tctcaagatt atattataat aatgttctct gggtaggtgt tgaaaatgag cctgtaatcc
     2401 tcagctgaca cataatttga atggtgcaga aaaaaaaaaa gaaaccgtaa ttttattatt
     2461 agattctcca aatgattttc atcaatttaa aatcattcaa tatctgacag ttactcttca
     2521 gttttaggct taccttggtc atgcttcagt tgtacttcca gtgcgtctct tttgttcctg
     2581 gctttgacat gaaaagatag gtttgagttc aaattttgca ttgtgtgagc ttctacagat
     2641 tttagacaag gaccgttttt actaagtaaa agggtggaga ggttcctggg gtggattcct
     2701 aagcagtgct tgtaaaccat cgcgtgcaat gagccagatg gagtaccatg agggttgcta
     2761 tttgttgttt ttaacaacta atcaagagtg agtgaacaac tatttataaa ctagatctcc
     2821 tatttttcag aatgctcttc tacgtataaa tatgaaatga taaagatgtc aaatatctca
     2881 gaggctatag ctgggaaccc gactgtgaaa gtatgtgata tctgaacaca tactagaaag
     2941 ctctgcatgt gtgttgtcct tcagcataat tcggaaggga aaacagtcga tcaagggatg
     3001 tattggaaca tgtcggagta gaaattgttc ctgatgtgcc agaacttcga ccctttctct
     3061 gagagagatg atcgtgccta taaatagtag gaccaatgtt gtgattaaca tcatcaggct
     3121 tggaatgaat tctctctaaa aataaaatga tgtatgattt gttgttggca tcccctttat
     3181 taattcatta aatttctgga tttgggttgt gacccagggt gcattaactt aaaagattca
     3241 ctaaagcagc acatagcact gggaactctg gctccgaaaa actttgttat atatatcaag
     3301 gatgttctgg ctttacattt tatttattag ctgtaaatac atgtgtggat gtgtaaatgg
     3361 agcttgtaca tattggaaag gtcattgtgg ctatctgcat ttataaatgt gtggtgctaa
     3421 ctgtatgtgt ctttatcagt gatggtctca cagagccaac tcactcttat gaaatgggct
     3481 ttaacaaaac aagaaagaaa cgtacttaac tgtgtgaaga aatggaatca gcttttaata
     3541 aaattgacaa cattttatta ccaca
//
LOCUS       NM_000238               4292 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily H member 2
            (KCNH2), transcript variant 1, mRNA.
ACCESSION   NM_000238
VERSION     NM_000238.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4292)
  AUTHORS   Zhou Y, Hao N, Sander JW, Lin X, Xiong W and Zhou D.
  TITLE     KCNH2 variants in a family with epilepsy and long QT syndrome: A
            case report and literature review
  JOURNAL   Epileptic Disord 25 (4), 492-499 (2023)
   PUBMED   36946251
  REMARK    GeneRIF: KCNH2 variants in a family with epilepsy and long QT
            syndrome: A case report and literature review. Review article
REFERENCE   2  (bases 1 to 4292)
  AUTHORS   Usuda K, Hayashi K, Nakajima T, Kurata Y, Cui S, Kusayama T, Tsuda
            T, Tada H, Kato T, Sakata K, Usui S, Fujino N, Tanaka Y, Kaneko Y,
            Kurabayashi M, Tange S, Saito T, Ohta K, Yamagishi M and Takamura M.
  TITLE     Mechanisms of fever-induced QT prolongation and torsades de pointes
            in patients with KCNH2 mutation
  JOURNAL   Europace 25 (6) (2023)
   PUBMED   37386841
  REMARK    GeneRIF: Mechanisms of fever-induced QT prolongation and torsades de
            pointes in patients with KCNH2 mutation.
REFERENCE   3  (bases 1 to 4292)
  AUTHORS   Wang X, Feng Y, Liu S, Liu J, Pan S, Wei L, Ma Y, Liu Z, Xing Y,
            Wang J, Cui Q, Zhang Y, Wang T and Cai C.
  TITLE     Hydroxychloroquine Attenuates hERG Channel by Promoting the Membrane
            Channel Degradation: Computational Simulation and Experimental
            Evidence for QT-Interval Prolongation with Hydroxychloroquine
            Treatment
  JOURNAL   Cardiology 148 (4), 310-323 (2023)
   PUBMED   37231805
  REMARK    GeneRIF: Hydroxychloroquine Attenuates hERG Channel by Promoting the
            Membrane Channel Degradation: Computational Simulation and
            Experimental Evidence for QT-Interval Prolongation with
            Hydroxychloroquine Treatment.
REFERENCE   4  (bases 1 to 4292)
  AUTHORS   Gong Q, Stump MR, Dunn AR, Deng V and Zhou Z.
  TITLE     Alternative splicing and polyadenylation contribute to the
            generation of hERG1 C-terminal isoforms
  JOURNAL   J Biol Chem 285 (42), 32233-32241 (2010)
   PUBMED   20693282
  REMARK    GeneRIF: Data suggest that post-transcriptional regulation of hERG1
            pre-mRNA may represent a novel mechanism to modulate the expression
            and function of hERG1 channels.
REFERENCE   5  (bases 1 to 4292)
  AUTHORS   Kupershmidt S, Snyders DJ, Raes A and Roden DM.
  TITLE     A K+ channel splice variant common in human heart lacks a C-terminal
            domain required for expression of rapidly activating delayed
            rectifier current
  JOURNAL   J Biol Chem 273 (42), 27231-27235 (1998)
   PUBMED   9765245
REFERENCE   6  (bases 1 to 4292)
  AUTHORS   Trudeau MC, Warmke JW, Ganetzky B and Robertson GA.
  TITLE     HERG, a human inward rectifier in the voltage-gated potassium
            channel family
  JOURNAL   Science 269 (5220), 92-95 (1995)
   PUBMED   7604285
  REMARK    Erratum:[Science. 1996 May 24;272(5265):1087. PMID: 8638148]
REFERENCE   7  (bases 1 to 4292)
  AUTHORS   Sanguinetti MC, Jiang C, Curran ME and Keating MT.
  TITLE     A mechanistic link between an inherited and an acquired cardiac
            arrhythmia: HERG encodes the IKr potassium channel
  JOURNAL   Cell 81 (2), 299-307 (1995)
   PUBMED   7736582
REFERENCE   8  (bases 1 to 4292)
  AUTHORS   Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED and Keating
            MT.
  TITLE     A molecular basis for cardiac arrhythmia: HERG mutations cause long
            QT syndrome
  JOURNAL   Cell 80 (5), 795-803 (1995)
   PUBMED   7889573
REFERENCE   9  (bases 1 to 4292)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301690
REFERENCE   10  (bases 1 to 4292)
  AUTHORS   Alders,M., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301308
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ525913.1, U04270.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000262186.10/ ENSP00000262186.5
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011234.2, DQ525913.1,
            AF363636.1 and U04270.1.
            On Aug 31, 2019 this sequence version replaced NM_000238.3.
            Summary: This gene encodes a component of a voltage-activated
            potassium channel found in cardiac muscle, nerve cells, and
            microglia. Four copies of this protein interact with one copy of
            the KCNE2 protein to form a functional potassium channel. Mutations
            in this gene can cause long QT syndrome type 2 (LQT2). Transcript
            variants encoding distinct isoforms have been identified. [provided
            by RefSeq, May 2022].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4292
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..4292
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="potassium voltage-gated channel subfamily H member
                     2"
                     /db_xref="GeneID:3757"
                     /db_xref="HGNC:HGNC:6251"
                     /db_xref="MIM:152427"
     misc_feature    346..348
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="upstream in-frame stop codon"
     CDS             409..3888
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="isoform a is encoded by transcript variant 1;
                     ether-a-go-go-related potassium channel protein; human
                     ether-a-go-go-related; potassium channel, voltage gated eag
                     related subfamily H, member 2; potassium voltage-gated
                     channel, subfamily H (eag-related), member 2; eag homolog;
                     eag-related protein 1; ether-a-go-go-related protein 1;
                     ether-a-go-go-related gene potassium channel 1;
                     voltage-gated potassium channel subunit Kv11.1; long QT
                     syndrome type 2"
                     /codon_start=1
                     /product="potassium voltage-gated channel subfamily H
                     member 2 isoform a"
                     /protein_id="NP_000229.1"
                     /db_xref="CCDS:CCDS5910.1"
                     /db_xref="GeneID:3757"
                     /db_xref="HGNC:HGNC:6251"
                     /db_xref="MIM:152427"
                     /translation="MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARVENCAVIYCN
                     DGFCELCGYSRAEVMQRPCTCDFLHGPRTQRRAAAQIAQALLGAEERKVEIAFYRKDGS
                     CFLCLVDVVPVKNEDGAVIMFILNFEVVMEKDMVGSPAHDTNHRGPPTSWLAPGRAKTF
                     RLKLPALLALTARESSVRSGGAGGAGAPGAVVVDVDLTPAAPSSESLALDEVTAMDNHV
                     AGLGPAEERRALVGPGSPPRSAPGQLPSPRAHSLNPDASGSSCSLARTRSRESCASVRR
                     ASSADDIEAMRAGVLPPPPRHASTGAMHPLRSGLLNSTSDSDLVRYRTISKIPQITLNF
                     VDLKGDPFLASPTSDREIIAPKIKERTHNVTEKVTQVLSLGADVLPEYKLQAPRIHRWT
                     ILHYSPFKAVWDWLILLLVIYTAVFTPYSAAFLLKETEEGPPATECGYACQPLAVVDLI
                     VDIMFIVDILINFRTTYVNANEEVVSHPGRIAVHYFKGWFLIDMVAAIPFDLLIFGSGS
                     EELIGLLKTARLLRLVRVARKLDRYSEYGAAVLFLLMCTFALIAHWLACIWYAIGNMEQ
                     PHMDSRIGWLHNLGDQIGKPYNSSGLGGPSIKDKYVTALYFTFSSLTSVGFGNVSPNTN
                     SEKIFSICVMLIGSLMYASIFGNVSAIIQRLYSGTARYHTQMLRVREFIRFHQIPNPLR
                     QRLEEYFQHAWSYTNGIDMNAVLKGFPECLQADICLHLNRSLLQHCKPFRGATKGCLRA
                     LAMKFKTTHAPPGDTLVHAGDLLTALYFISRGSIEILRGDVVVAILGKNDIFGEPLNLY
                     ARPGKSNGDVRALTYCDLHKIHRDDLLEVLDMYPEFSDHFWSSLEITFNLRDTNMIPGS
                     PGSTELEGGFSRQRKRKLSFRRRTDKDTEQPGEVSALGPGRAGAGPSSRGRPGGPWGES
                     PSSGPSSPESSEDEGPGRSSSPLRLVPFSSPRPPGEPPGGEPLMEDCEKSSDTCNPLSG
                     AFSGVSNIFSFWGDSRGRQYQELPRCPAPTPSLLNIPLSSPGRRPRGDVESRLDALQRQ
                     LNRLETRLSADMATVLQLLQRQMTLVPPAYSAVTTPGPGPTSTSPLLPVSPLPTLTLDS
                     LSQVSQFMACEELPPGAPELPQEGPTRRLSLPGQLGALTSQPLHRHGSDPGS"
     misc_feature    1099..1350
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12809.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1123..1125
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q12809.1); phosphorylation site"
     misc_feature    1135..1137
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O35219; propagated from
                     UniProtKB/Swiss-Prot (Q12809.1); phosphorylation site"
     misc_feature    1255..1257
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O35219; propagated from
                     UniProtKB/Swiss-Prot (Q12809.1); phosphorylation site"
     misc_feature    1258..1260
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O35219; propagated from
                     UniProtKB/Swiss-Prot (Q12809.1); phosphorylation site"
     misc_feature    1366..1368
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q12809.1); phosphorylation site"
     misc_feature    1459..1461
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O08962; propagated from
                     UniProtKB/Swiss-Prot (Q12809.1); phosphorylation site"
     misc_feature    1618..1680
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12809.1);
                     transmembrane region"
     misc_feature    1759..1821
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12809.1);
                     transmembrane region"
     misc_feature    1894..1956
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12809.1);
                     transmembrane region"
     misc_feature    1969..2031
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12809.1);
                     transmembrane region"
     misc_feature    2050..2112
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12809.1);
                     transmembrane region"
     misc_feature    2200..2202
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12063277; propagated from
                     UniProtKB/Swiss-Prot (Q12809.1); glycosylation site"
     misc_feature    2278..2295
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12809.1);
                     Region: Selectivity filter. /evidence=ECO:0000250"
     misc_feature    2323..2385
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12809.1);
                     transmembrane region"
     misc_feature    3016..3354
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12809.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3019..3021
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q12809.1); phosphorylation site"
     misc_feature    3028..3030
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O35219; propagated from
                     UniProtKB/Swiss-Prot (Q12809.1); phosphorylation site"
     misc_feature    3448..3450
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:O35219; propagated from
                     UniProtKB/Swiss-Prot (Q12809.1); methylation site"
     misc_feature    3451..3522
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12809.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3763..3885
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12809.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3817..3819
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q12809.1); phosphorylation site"
     regulatory      4270..4275
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="hexamer: AATAAA"
     polyA_site      4292
                     /gene="KCNH2"
                     /gene_synonym="ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1;
                     LQT2; SQT1"
                     /note="major polyA site"
ORIGIN
        1 aacccttccg cggccgggcc gagccgcagg cgctgcccga gccgcgggcg ctggagcggc
       61 tgtcggcgcg gtggcaggcg ggagccagga gtccggggct cgggcgggcg gagcgcagcg
      121 cggggacgcg gcggagcggg ccccgcggct cggcgggggc cggcagacag gtgtgccggc
      181 ggcgggcggc tcgcgctcag gcggctccag gccgggcccg gggtccggag cggggagccg
      241 ggagccgagc gaggacccgg cgcccgcagt ccagtcttgg ccgcgcccgt gctcggcttg
      301 gccgcggggt gcggggacca cggcccggcc gggccacccg aagcctagtg ctgggccggg
      361 ccgggccggg gtgggtgggg gcccgcccgg cccgcccatg ggctcaggat gccggtgcgg
      421 aggggccacg tcgcgccgca gaacaccttc ctggacacca tcatccgcaa gtttgagggc
      481 cagagccgta agttcatcat cgccaacgct cgggtggaga actgcgccgt catctactgc
      541 aacgacggct tctgcgagct gtgcggctac tcgcgggccg aggtgatgca gcgaccctgc
      601 acctgcgact tcctgcacgg gccgcgcacg cagcgccgcg ctgccgcgca gatcgcgcag
      661 gcactgctgg gcgccgagga gcgcaaagtg gaaatcgcct tctaccggaa agatgggagc
      721 tgcttcctat gtctggtgga tgtggtgccc gtgaagaacg aggatggggc tgtcatcatg
      781 ttcatcctca atttcgaggt ggtgatggag aaggacatgg tggggtcccc ggctcatgac
      841 accaaccacc ggggcccccc caccagctgg ctggccccag gccgcgccaa gaccttccgc
      901 ctgaagctgc ccgcgctgct ggcgctgacg gcccgggagt cgtcggtgcg gtcgggcggc
      961 gcgggcggcg cgggcgcccc gggggccgtg gtggtggacg tggacctgac gcccgcggca
     1021 cccagcagcg agtcgctggc cctggacgaa gtgacagcca tggacaacca cgtggcaggg
     1081 ctcgggcccg cggaggagcg gcgtgcgctg gtgggtcccg gctctccgcc ccgcagcgcg
     1141 cccggccagc tcccatcgcc ccgggcgcac agcctcaacc ccgacgcctc gggctccagc
     1201 tgcagcctgg cccggacgcg ctcccgagaa agctgcgcca gcgtgcgccg cgcctcgtcg
     1261 gccgacgaca tcgaggccat gcgcgccggg gtgctgcccc cgccaccgcg ccacgccagc
     1321 accggggcca tgcacccact gcgcagcggc ttgctcaact ccacctcgga ctccgacctc
     1381 gtgcgctacc gcaccattag caagattccc caaatcaccc tcaactttgt ggacctcaag
     1441 ggcgacccct tcttggcttc gcccaccagt gaccgtgaga tcatagcacc taagataaag
     1501 gagcgaaccc acaatgtcac tgagaaggtc acccaggtcc tgtccctggg cgccgacgtg
     1561 ctgcctgagt acaagctgca ggcaccgcgc atccaccgct ggaccatcct gcattacagc
     1621 cccttcaagg ccgtgtggga ctggctcatc ctgctgctgg tcatctacac ggctgtcttc
     1681 acaccctact cggctgcctt cctgctgaag gagacggaag aaggcccgcc tgctaccgag
     1741 tgtggctacg cctgccagcc gctggctgtg gtggacctca tcgtggacat catgttcatt
     1801 gtggacatcc tcatcaactt ccgcaccacc tacgtcaatg ccaacgagga ggtggtcagc
     1861 caccccggcc gcatcgccgt ccactacttc aagggctggt tcctcatcga catggtggcc
     1921 gccatcccct tcgacctgct catcttcggc tctggctctg aggagctgat cgggctgctg
     1981 aagactgcgc ggctgctgcg gctggtgcgc gtggcgcgga agctggatcg ctactcagag
     2041 tacggcgcgg ccgtgctgtt cttgctcatg tgcacctttg cgctcatcgc gcactggcta
     2101 gcctgcatct ggtacgccat cggcaacatg gagcagccac acatggactc acgcatcggc
     2161 tggctgcaca acctgggcga ccagataggc aaaccctaca acagcagcgg cctgggcggc
     2221 ccctccatca aggacaagta tgtgacggcg ctctacttca ccttcagcag cctcaccagt
     2281 gtgggcttcg gcaacgtctc tcccaacacc aactcagaga agatcttctc catctgcgtc
     2341 atgctcattg gctccctcat gtatgctagc atcttcggca acgtgtcggc catcatccag
     2401 cggctgtact cgggcacagc ccgctaccac acacagatgc tgcgggtgcg ggagttcatc
     2461 cgcttccacc agatccccaa tcccctgcgc cagcgcctcg aggagtactt ccagcacgcc
     2521 tggtcctaca ccaacggcat cgacatgaac gcggtgctga agggcttccc tgagtgcctg
     2581 caggctgaca tctgcctgca cctgaaccgc tcactgctgc agcactgcaa acccttccga
     2641 ggggccacca agggctgcct tcgggccctg gccatgaagt tcaagaccac acatgcaccg
     2701 ccaggggaca cactggtgca tgctggggac ctgctcaccg ccctgtactt catctcccgg
     2761 ggctccatcg agatcctgcg gggcgacgtc gtcgtggcca tcctggggaa gaatgacatc
     2821 tttggggagc ctctgaacct gtatgcaagg cctggcaagt cgaacgggga tgtgcgggcc
     2881 ctcacctact gtgacctaca caagatccat cgggacgacc tgctggaggt gctggacatg
     2941 taccctgagt tctccgacca cttctggtcc agcctggaga tcaccttcaa cctgcgagat
     3001 accaacatga tcccgggctc ccccggcagt acggagttag agggtggctt cagtcggcaa
     3061 cgcaagcgca agttgtcctt ccgcaggcgc acggacaagg acacggagca gccaggggag
     3121 gtgtcggcct tggggccggg ccgggcgggg gcagggccga gtagccgggg ccggccgggg
     3181 gggccgtggg gggagagccc gtccagtggc ccctccagcc ctgagagcag tgaggatgag
     3241 ggcccaggcc gcagctccag ccccctccgc ctggtgccct tctccagccc caggcccccc
     3301 ggagagccgc cgggtgggga gcccctgatg gaggactgcg agaagagcag cgacacttgc
     3361 aaccccctgt caggcgcctt ctcaggagtg tccaacattt tcagcttctg gggggacagt
     3421 cggggccgcc agtaccagga gctccctcga tgccccgccc ccacccccag cctcctcaac
     3481 atccccctct ccagcccggg tcggcggccc cggggcgacg tggagagcag gctggatgcc
     3541 ctccagcgcc agctcaacag gctggagacc cggctgagtg cagacatggc cactgtcctg
     3601 cagctgctac agaggcagat gacgctggtc ccgcccgcct acagtgctgt gaccaccccg
     3661 gggcctggcc ccacttccac atccccgctg ttgcccgtca gccccctccc caccctcacc
     3721 ttggactcgc tttctcaggt ttcccagttc atggcgtgtg aggagctgcc cccgggggcc
     3781 ccagagcttc cccaagaagg ccccacacga cgcctctccc taccgggcca gctgggggcc
     3841 ctcacctccc agcccctgca cagacacggc tcggacccgg gcagttagtg gggctgccca
     3901 gtgtggacac gtggctcacc cagggatcaa ggcgctgctg ggccgctccc cttggaggcc
     3961 ctgctcagga ggccctgacc gtggaagggg agaggaactc gaaagcacag ctcctccccc
     4021 agcccttggg accatcttct cctgcagtcc cctgggcccc agtgagaggg gcaggggcag
     4081 ggccggcagt aggtggggcc tgtggtcccc ccactgccct gagggcatta gctggtctaa
     4141 ctgcccggag gcacccggcc ctgggcctta ggcacctcaa ggacttttct gctatttact
     4201 gctcttattg ttaaggataa taattaagga tcatatgaat aattaatgaa gatgctgatg
     4261 actatgaata ataaataatt atcctgagga ga
//
LOCUS       NM_000239               1490 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens lysozyme (LYZ), mRNA.
ACCESSION   NM_000239
VERSION     NM_000239.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1490)
  AUTHORS   Frese A, Goode C, Zhaliazka K, Holman AP, Dou T and Kurouski D.
  TITLE     Length and saturation of fatty acids in phosphatidylserine determine
            the rate of lysozyme aggregation simultaneously altering the
            structure and toxicity of amyloid oligomers and fibrils
  JOURNAL   Protein Sci 32 (8), e4717 (2023)
   PUBMED   37402649
  REMARK    GeneRIF: Length and saturation of fatty acids in phosphatidylserine
            determine the rate of lysozyme aggregation simultaneously altering
            the structure and toxicity of amyloid oligomers and fibrils.
REFERENCE   2  (bases 1 to 1490)
  AUTHORS   Vettore N, Moray J, Brans A, Herman R, Charlier P, Kumita JR, Kerff
            F, Dobson CM and Dumoulin M.
  TITLE     Characterisation of the structural, dynamic and aggregation
            properties of the W64R amyloidogenic variant of human lysozyme
  JOURNAL   Biophys Chem 271, 106563 (2021)
   PUBMED   33640796
  REMARK    GeneRIF: Characterisation of the structural, dynamic and aggregation
            properties of the W64R amyloidogenic variant of human lysozyme.
REFERENCE   3  (bases 1 to 1490)
  AUTHORS   Carpentier M and Chomilier J.
  TITLE     Analyses of displacements resulting from a point mutation in
            proteins
  JOURNAL   J Struct Biol 211 (2), 107543 (2020)
   PUBMED   32522553
  REMARK    GeneRIF: Analyses of displacements resulting from a point mutation
            in proteins.
REFERENCE   4  (bases 1 to 1490)
  AUTHORS   Bergkvist L, Richards DR, Bernardo-Gancedo A, Kumita JR, Nilsson PR
            and Brorsson AC.
  TITLE     Serum amyloid P component promotes formation of distinct aggregated
            lysozyme morphologies and reduces toxicity in Drosophila flies
            expressing F57I lysozyme
  JOURNAL   PLoS One 15 (1), e0227227 (2020)
   PUBMED   31978114
  REMARK    GeneRIF: Serum amyloid P component promotes formation of distinct
            aggregated lysozyme morphologies and reduces toxicity in Drosophila
            flies expressing human F57I lysozyme. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 1490)
  AUTHORS   Bergamo A, Gerdol M, Pallavicini A, Greco S, Schepens I, Hamelin R,
            Armand F, Dyson PJ and Sava G.
  TITLE     Lysozyme-Induced Transcriptional Regulation of TNF-alpha Pathway
            Genes in Cells of the Monocyte Lineage
  JOURNAL   Int J Mol Sci 20 (21), 5502 (2019)
   PUBMED   31694163
  REMARK    GeneRIF: These results of the RNA-seq experiment show that lysozyme
            induces transcriptional modulation of the TNF-alpha/IL-1beta pathway
            genes in U937 monocytes. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1490)
  AUTHORS   Schroder JM and Harder J.
  TITLE     Antimicrobial skin peptides and proteins
  JOURNAL   Cell Mol Life Sci 63 (4), 469-486 (2006)
   PUBMED   16416029
  REMARK    GeneRIF: Lysozyme functions as an antimicrobial peptide, with
            antibacterial activity. Review article
REFERENCE   7  (bases 1 to 1490)
  AUTHORS   Ohkubo T, Taniyama Y and Kikuchi M.
  TITLE     1H and 15N NMR study of human lysozyme
  JOURNAL   J Biochem 110 (6), 1022-1029 (1991)
   PUBMED   1794972
REFERENCE   8  (bases 1 to 1490)
  AUTHORS   Inaka K, Taniyama Y, Kikuchi M, Morikawa K and Matsushima M.
  TITLE     The crystal structure of a mutant human lysozyme C77/95A with
            increased secretion efficiency in yeast
  JOURNAL   J Biol Chem 266 (19), 12599-12603 (1991)
   PUBMED   2061330
REFERENCE   9  (bases 1 to 1490)
  AUTHORS   Redfield C and Dobson CM.
  TITLE     1H NMR studies of human lysozyme: spectral assignment and comparison
            with hen lysozyme
  JOURNAL   Biochemistry 29 (31), 7201-7214 (1990)
   PUBMED   2207098
REFERENCE   10  (bases 1 to 1490)
  AUTHORS   Reitamo,S., Klockars,M., Adinolfi,M. and Osserman,E.F.
  TITLE     Human lysozyme (origin and distribution in health and disease)
  JOURNAL   Ric Clin Lab 8 (4), 211-231 (1978)
   PUBMED   366724
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC004147.2, AK130149.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000261267.7/ ENSP00000261267.2
            Protein has antimicrobial activity :: PMID: 16416029
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK130149.1, J03801.1 and
            AC020656.33.
            On Aug 31, 2019 this sequence version replaced NM_000239.2.
            Summary: This gene encodes human lysozyme, whose natural substrate
            is the bacterial cell wall peptidoglycan (cleaving the
            beta[1-4]glycosidic linkages between N-acetylmuramic acid and
            N-acetylglucosamine). Lysozyme is one of the antimicrobial agents
            found in human milk, and is also present in spleen, lung, kidney,
            white blood cells, plasma, saliva, and tears. The protein has
            antibacterial activity against a number of bacterial species.
            Missense mutations in this gene have been identified in heritable
            renal amyloidosis. [provided by RefSeq, Oct 2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1490
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q15"
     gene            1..1490
                     /gene="LYZ"
                     /gene_synonym="LYZF1; LZM"
                     /note="lysozyme"
                     /db_xref="GeneID:4069"
                     /db_xref="HGNC:HGNC:6740"
                     /db_xref="MIM:153450"
     misc_feature    5..7
                     /gene="LYZ"
                     /gene_synonym="LYZF1; LZM"
                     /note="upstream in-frame stop codon"
     CDS             29..475
                     /gene="LYZ"
                     /gene_synonym="LYZF1; LZM"
                     /EC_number="3.2.1.17"
                     /note="1,4-beta-N-acetylmuramidase C; lysozyme C; c-type
                     lysozyme; lysozyme F1"
                     /codon_start=1
                     /product="lysozyme C precursor"
                     /protein_id="NP_000230.1"
                     /db_xref="CCDS:CCDS8989.1"
                     /db_xref="GeneID:4069"
                     /db_xref="HGNC:HGNC:6740"
                     /db_xref="MIM:153450"
                     /translation="MKALIVLGLVLLSVTVQGKVFERCELARTLKRLGMDGYRGISLAN
                     WMCLAKWESGYNTRATNYNAGDRSTDYGIFQINSRYWCNDGKTPGAVNACHLSCSALLQ
                     DNIADAVACAKRVVRDPQGIRAWVAWRNRCQNRDVRQYVQGCGV"
     sig_peptide     29..82
                     /gene="LYZ"
                     /gene_synonym="LYZF1; LZM"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     83..472
                     /gene="LYZ"
                     /gene_synonym="LYZF1; LZM"
                     /product="lysozyme C"
                     /experiment="DESCRIPTION:antibacterial peptide[PMID:
                     16416029]"
     regulatory      1471..1476
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LYZ"
                     /gene_synonym="LYZF1; LZM"
                     /note="hexamer: ATTAAA"
     polyA_site      1490
                     /gene="LYZ"
                     /gene_synonym="LYZF1; LZM"
                     /note="major polyA site"
ORIGIN
        1 agcctagcac tctgacctag cagtcaacat gaaggctctc attgttctgg ggcttgtcct
       61 cctttctgtt acggtccagg gcaaggtctt tgaaaggtgt gagttggcca gaactctgaa
      121 aagattggga atggatggct acaggggaat cagcctagca aactggatgt gtttggccaa
      181 atgggagagt ggttacaaca cacgagctac aaactacaat gctggagaca gaagcactga
      241 ttatgggata tttcagatca atagccgcta ctggtgtaat gatggcaaaa ccccaggagc
      301 agttaatgcc tgtcatttat cctgcagtgc tttgctgcaa gataacatcg ctgatgctgt
      361 agcttgtgca aagagggttg tccgtgatcc acaaggcatt agagcatggg tggcatggag
      421 aaatcgttgt caaaacagag atgtccgtca gtatgttcaa ggttgtggag tgtaactcca
      481 gaattttcct tcttcagctc attttgtctc tctcacatta agggagtagg aattaagtga
      541 aaggtcacac taccattatt tccccttcaa acaaataata tttttacaga agcaggagca
      601 aaatatggcc tttcttctaa gagatataat gttcactaat gtggttattt tacattaagc
      661 ctacaacatt tttcagtttg caaatagaac taatactggt gaaaatttac ctaaaacctt
      721 ggttatcaaa tacatctcca gtacattccg ttcttttttt ttttgagaca gtctcgctct
      781 gtcgcccagg ctggagtgca gtggcgcaat ctcggctcac tgcaacctcc acctcccggg
      841 ttcacgccat tctcctgcct cagcctcccg agtagctggg attacgggcg cccgccacca
      901 cgcccggcta attttttgta tttttagtag agacagggtt tcaccgtgtt agccaggatg
      961 gtctcgatct cctgaccttg tgatccaccc acctcggcct cccaaagtgc tgggattaca
     1021 ggcgtgagcc actgcgcccg gccacattca gttcttatca aagaaataac ccagacttaa
     1081 tcttgaatga tacgattatg cccaatatta agtaaaaaat ataagaaaag gttatcttaa
     1141 atagatctta ggcaaaatac cagctgatga aggcatctga tgccttcatc tgttcagtca
     1201 tctccaaaaa cagtaaaaat aaccactttt tgttgggcaa tatgaaattt ttaaaggagt
     1261 agaataccaa atgatagaaa cagactgcct gaattgagaa ttttgatttc ttaaagtgtg
     1321 tttctttcta aattgctgtt ccttaatttg attaatttaa ttcatgtatt atgattaaat
     1381 ctgaggcaga tgagcttaca agtattgaaa taattactaa ttaatcacaa atgtgaagtt
     1441 atgcatgatg taaaaaatac aaacattcta attaaaggct ttgcaacaca
//
LOCUS       NM_000240               3931 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens monoamine oxidase A (MAOA), transcript variant 1, mRNA.
ACCESSION   NM_000240
VERSION     NM_000240.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3931)
  AUTHORS   Chen L, Xiong W, Qi L and He W.
  TITLE     High monoamine oxidase a expression predicts poor prognosis for
            prostate cancer patients
  JOURNAL   BMC Urol 23 (1), 112 (2023)
   PUBMED   37403079
  REMARK    GeneRIF: High monoamine oxidase a expression predicts poor prognosis
            for prostate cancer patients. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3931)
  AUTHORS   Spies M, Murgas M, Vraka C, Philippe C, Gryglewski G, Nics L, Balber
            T, Baldinger-Melich P, Hartmann AM, Rujescu D, Hacker M,
            Winkler-Pjrek E, Winkler D and Lanzenberger R.
  TITLE     Impact of genetic variants within serotonin turnover enzymes on
            human cerebral monoamine oxidase A in vivo
  JOURNAL   Transl Psychiatry 13 (1), 208 (2023)
   PUBMED   37322010
  REMARK    GeneRIF: Impact of genetic variants within serotonin turnover
            enzymes on human cerebral monoamine oxidase A in vivo. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 3931)
  AUTHORS   Nordquist N and Oreland L.
  TITLE     Serotonin, genetic variability, behaviour, and psychiatric
            disorders--a review
  JOURNAL   Ups J Med Sci 115 (1), 2-10 (2010)
   PUBMED   20187845
  REMARK    Review article
REFERENCE   4  (bases 1 to 3931)
  AUTHORS   Brunner HG, Nelen M, Breakefield XO, Ropers HH and van Oost BA.
  TITLE     Abnormal behavior associated with a point mutation in the structural
            gene for monoamine oxidase A
  JOURNAL   Science 262 (5133), 578-580 (1993)
   PUBMED   8211186
REFERENCE   5  (bases 1 to 3931)
  AUTHORS   Zhu QS, Grimsby J, Chen K and Shih JC.
  TITLE     Promoter organization and activity of human monoamine oxidase (MAO)
            A and B genes
  JOURNAL   J Neurosci 12 (11), 4437-4446 (1992)
   PUBMED   1432104
REFERENCE   6  (bases 1 to 3931)
  AUTHORS   Chen ZY, Hotamisligil GS, Huang JK, Wen L, Ezzeddine D,
            Aydin-Muderrisoglu N, Powell JF, Huang RH, Breakefield XO, Craig I
            et al.
  TITLE     Structure of the human gene for monoamine oxidase type A
  JOURNAL   Nucleic Acids Res 19 (16), 4537-4541 (1991)
   PUBMED   1886775
REFERENCE   7  (bases 1 to 3931)
  AUTHORS   Grimsby J, Chen K, Wang LJ, Lan NC and Shih JC.
  TITLE     Human monoamine oxidase A and B genes exhibit identical exon-intron
            organization
  JOURNAL   Proc Natl Acad Sci U S A 88 (9), 3637-3641 (1991)
   PUBMED   2023912
REFERENCE   8  (bases 1 to 3931)
  AUTHORS   Hsu YP, Weyler W, Chen S, Sims KB, Rinehart WB, Utterback MC, Powell
            JF and Breakefield XO.
  TITLE     Structural features of human monoamine oxidase A elucidated from
            cDNA and peptide sequences
  JOURNAL   J Neurochem 51 (4), 1321-1324 (1988)
   PUBMED   3418353
REFERENCE   9  (bases 1 to 3931)
  AUTHORS   Bach AW, Lan NC, Johnson DL, Abell CW, Bembenek ME, Kwan SW, Seeburg
            PH and Shih JC.
  TITLE     cDNA cloning of human liver monoamine oxidase A and B: molecular
            basis of differences in enzymatic properties
  JOURNAL   Proc Natl Acad Sci U S A 85 (13), 4934-4938 (1988)
   PUBMED   3387449
REFERENCE   10  (bases 1 to 3931)
  AUTHORS   Ozelius L, Hsu YP, Bruns G, Powell JF, Chen S, Weyler W, Utterback
            M, Zucker D, Haines J, Trofatter JA et al.
  TITLE     Human monoamine oxidase gene (MAOA): chromosome position (Xp21-p11)
            and DNA polymorphism
  JOURNAL   Genomics 3 (1), 53-58 (1988)
   PUBMED   2906043
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.3442180.1,
            SRR18074967.1397033.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000338702.4/ ENSP00000340684.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC044787.1, BC008064.2 and
            AL020990.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 19, 2019 this sequence version replaced NM_000240.3.
            Summary: This gene is one of two neighboring gene family members
            that encode mitochondrial enzymes which catalyze the oxidative
            deamination of amines, such as dopamine, norepinephrine, and
            serotonin. Mutation of this gene results in Brunner syndrome. This
            gene has also been associated with a variety of other psychiatric
            disorders, including antisocial behavior. Alternatively spliced
            transcript variants encoding multiple isoforms have been observed.
            [provided by RefSeq, Jul 2012].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3931
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.3"
     gene            1..3931
                     /gene="MAOA"
                     /gene_synonym="BRNRS; MAO-A"
                     /note="monoamine oxidase A"
                     /db_xref="GeneID:4128"
                     /db_xref="HGNC:HGNC:6833"
                     /db_xref="MIM:309850"
     CDS             44..1627
                     /gene="MAOA"
                     /gene_synonym="BRNRS; MAO-A"
                     /EC_number="1.4.3.4"
                     /EC_number="1.4.3.21"
                     /note="isoform 1 is encoded by transcript variant 1; amine
                     oxidase [flavin-containing] A; monoamine oxidase type A"
                     /codon_start=1
                     /product="amine oxidase [flavin-containing] A isoform 1"
                     /protein_id="NP_000231.1"
                     /db_xref="CCDS:CCDS14260.1"
                     /db_xref="GeneID:4128"
                     /db_xref="HGNC:HGNC:6833"
                     /db_xref="MIM:309850"
                     /translation="MENQEKASIAGHMFDVVVIGGGISGLSAAKLLTEYGVSVLVLEAR
                     DRVGGRTYTIRNEHVDYVDVGGAYVGPTQNRILRLSKELGIETYKVNVSERLVQYVKGK
                     TYPFRGAFPPVWNPIAYLDYNNLWRTIDNMGKEIPTDAPWEAQHADKWDKMTMKELIDK
                     ICWTKTARRFAYLFVNINVTSEPHEVSALWFLWYVKQCGGTTRIFSVTNGGQERKFVGG
                     SGQVSERIMDLLGDQVKLNHPVTHVDQSSDNIIIETLNHEHYECKYVINAIPPTLTAKI
                     HFRPELPAERNQLIQRLPMGAVIKCMMYYKEAFWKKKDYCGCMIIEDEDAPISITLDDT
                     KPDGSLPAIMGFILARKADRLAKLHKEIRKKKICELYAKVLGSQEALHPVHYEEKNWCE
                     EQYSGGCYTAYFPPGIMTQYGRVIRQPVGRIFFAGTETATKWSGYMEGAVEAGERAARE
                     VLNGLGKVTEKDIWVQEPESKDVPAVEITHTFWERNLPSVSGLLKIIGFSTSVTALGFV
                     LYKYKLLPRS"
     misc_feature    44..46
                     /gene="MAOA"
                     /gene_synonym="BRNRS; MAO-A"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000269|PubMed:11812236; propagated from
                     UniProtKB/Swiss-Prot (P21397.1); acetylation site"
     misc_feature    1046..1048
                     /gene="MAOA"
                     /gene_synonym="BRNRS; MAO-A"
                     /note="Important for substrate specificity.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P21397.1); other site"
     misc_feature    1163..1165
                     /gene="MAOA"
                     /gene_synonym="BRNRS; MAO-A"
                     /note="Important for catalytic activity; propagated from
                     UniProtKB/Swiss-Prot (P21397.1); other site"
     misc_feature    1190..1192
                     /gene="MAOA"
                     /gene_synonym="BRNRS; MAO-A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P21396; propagated from
                     UniProtKB/Swiss-Prot (P21397.1); phosphorylation site"
     misc_feature    1535..1597
                     /gene="MAOA"
                     /gene_synonym="BRNRS; MAO-A"
                     /note="propagated from UniProtKB/Swiss-Prot (P21397.1);
                     transmembrane region"
     misc_feature    1601..1609
                     /gene="MAOA"
                     /gene_synonym="BRNRS; MAO-A"
                     /note="propagated from UniProtKB/Swiss-Prot (P21397.1);
                     Region: Interaction with membrane phospholipid headgroups.
                     /evidence=ECO:0000305"
     polyA_site      1926
                     /gene="MAOA"
                     /gene_synonym="BRNRS; MAO-A"
     regulatory      3908..3913
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAOA"
                     /gene_synonym="BRNRS; MAO-A"
                     /note="hexamer: AATAAA"
     polyA_site      3931
                     /gene="MAOA"
                     /gene_synonym="BRNRS; MAO-A"
                     /note="major polyA site"
ORIGIN
        1 ccccactcct gtgcctacga cccaggagcg tgtcagccaa agcatggaga atcaagagaa
       61 ggcgagtatc gcgggccaca tgttcgacgt agtcgtgatc ggaggtggca tttcaggact
      121 atctgctgcc aaactcttga ctgaatatgg cgttagtgtt ttggttttag aagctcggga
      181 cagggttgga ggaagaacat atactataag gaatgagcat gttgattacg tagatgttgg
      241 tggagcttat gtgggaccaa cccaaaacag aatcttacgc ttgtctaagg agctgggcat
      301 agagacttac aaagtgaatg tcagtgagcg tctcgttcaa tatgtcaagg ggaaaacata
      361 tccatttcgg ggcgcctttc caccagtatg gaatcccatt gcatatttgg attacaataa
      421 tctgtggagg acaatagata acatggggaa ggagattcca actgatgcac cctgggaggc
      481 tcaacatgct gacaaatggg acaaaatgac catgaaagag ctcattgaca aaatctgctg
      541 gacaaagact gctaggcggt ttgcttatct ttttgtgaat atcaatgtga cctctgagcc
      601 tcacgaagtg tctgccctgt ggttcttgtg gtatgtgaag cagtgcgggg gcaccactcg
      661 gatattctct gtcaccaatg gtggccagga acggaagttt gtaggtggat ctggtcaagt
      721 gagcgaacgg ataatggacc tcctcggaga ccaagtgaag ctgaaccatc ctgtcactca
      781 cgttgaccag tcaagtgaca acatcatcat agagacgctg aaccatgaac attatgagtg
      841 caaatacgta attaatgcga tccctccgac cttgactgcc aagattcact tcagaccaga
      901 gcttccagca gagagaaacc agttaattca gcggcttcca atgggagctg tcattaagtg
      961 catgatgtat tacaaggagg ccttctggaa gaagaaggat tactgtggct gcatgatcat
     1021 tgaagatgaa gatgctccaa tttcaataac cttggatgac accaagccag atgggtcact
     1081 gcctgccatc atgggcttca ttcttgcccg gaaagctgat cgacttgcta agctacataa
     1141 ggaaataagg aagaagaaaa tctgtgagct ctatgccaaa gtgctgggat cccaagaagc
     1201 tttacatcca gtgcattatg aagagaagaa ctggtgtgag gagcagtact ctgggggctg
     1261 ctacacggcc tacttccctc ctgggatcat gactcaatat ggaagggtga ttcgtcaacc
     1321 cgtgggcagg attttctttg cgggcacaga gactgccaca aagtggagcg gctacatgga
     1381 aggggcagtt gaggctggag aacgagcagc tagggaggtc ttaaatggtc tcgggaaggt
     1441 gaccgagaaa gatatctggg tacaagaacc tgaatcaaag gacgttccag cggtagaaat
     1501 cacccacacc ttctgggaaa ggaacctgcc ctctgtttct ggcctgctga agatcattgg
     1561 attttccaca tcagtaactg ccctggggtt tgtgctgtac aaatacaagc tcctgccacg
     1621 gtcttgaagt tctgttctta tgctctctgc tcactggttt tcaataccac caagaggaaa
     1681 atattgacaa gtttaaaggc tgtgtcattg ggccatgttt aagtgtactg gatttaacta
     1741 cctttggctt aattccaatc attgttaaag taaaaacaat tcaaagaatc acctaattaa
     1801 tttcagtaag atcaagctcc atcttatttg tcagtgtaga tcaactcatg ttaattgata
     1861 gaataaagcc ttgtgatcac tttctgaaat tcacaaagtt aaacgtgatg tgctcatcag
     1921 aaacaatttc tgtgtcctgt ttttattccc ttcaatgcaa aatacatgat gatttcagaa
     1981 acaaagcatt tgactttctg tctgtggagg tggagtaggt gaaggcccag cctgtaactg
     2041 tcctttttct tcccttaggc aatggtgaac tgtcattaca gagcctagag gctcacagcc
     2101 tcctggagga agcagcctcc actttggatc aggaaatagt aaaggaaagc agtgttgggg
     2161 gtagcggcat gcagaccctc agaccagaat ggggacatct tgtggtctgc tgcctcagga
     2221 atctcctgac cacttgtagt ccctccgact tctctagaca tctagtctca gtgctagctt
     2281 atttgtattt ttcctctttc acttcttatg gaggagagtg tttaactgag ttagaatgtt
     2341 gaaactgact tgctgtgact tatgtgcagc tttccagttg agcagaggaa aatagtggca
     2401 ggactgtccc ccaggaggac tccctgctta gctctgtggg agaccaacta cgactggcat
     2461 cttctcttcc ccctggaagg cagctagaca ccaatggatc cttgtcagtt gtaacattct
     2521 atttcaactt caggaaagca gcagttttct tttaattttt cctatgacca taaaattaga
     2581 catacctctc aacttacata tgtcttcaac atggttacct ctgcataaat attagcaaag
     2641 catgccaatt tctcttaagt actgaaatac atatgataaa tttgactgtt atttgttgag
     2701 actatcaaac agaaaagaaa ttagggctct aatttcctta aagcaagctc acttgcttta
     2761 gttgttaagt tttataaaag acatgaaatt gagtcatttt atatatgaaa actaagttct
     2821 ctatcttagg agtaatgtcg gcccacaagg gtgcccacct cttgttttcc ccttttaaaa
     2881 actcagattt ttaaaagccc tttccaaagg tttcaactgt aaaatacttc tttttacaat
     2941 gtatcaacat atttttattt aaggggaatt aacaattgcc agggaaacca gccaacccaa
     3001 gtttattata tcattaacct tatcataaat tcaaacctaa gttgctggac cctggtgtga
     3061 ggacataaat cttccaaagt tttgcctatc ctaagagctg catttttcta ctgctcttta
     3121 ccttgcattt tagctaattt aggagttttg agaatgtatt ggatacgctc cagtacataa
     3181 ggagttgccg catattatat cagactgctt tgagaaatct catccctagt ctattgcagt
     3241 tgtttctatt agcttactga ttaactcagt cctgacacac cttttgggaa atgctgattt
     3301 aaacttctta actggcaaca gttggaacag taatcagttt gctaacatat ttaaagtctt
     3361 gaatgttgaa gaactcatgt gatttaccct tttcaacttt ttggaaaacg atttaattta
     3421 ttctaattag attaacccta ttaatctatg gattgggtat caaaatgaat gccagtccag
     3481 atgtgcctag acacgaaatt ggagctgagg actctcacga tatgcaagtt catccaacgt
     3541 gaagatacca taagcttttt ctctgaacca gagaaatgaa agtcagttta agaggctgat
     3601 agatcttggc cctgttaagg catccacttc acagttctga aggctgagtc agccccactc
     3661 cacagttagg ccaagaatta gattttaaaa cttcatctgt ctgtcccagt taactgttaa
     3721 ataaggcctc atcctccact gaagagtatg gattgaagga ttgtgaacta tgtttagtgt
     3781 gattgtgaac ttggtgccta atgttccatg tctgaagttt gccccagtgc tacacgttgg
     3841 agtataccta tgtgtgtgct ttgccactga agtaagattt tgcctgtatg gtactgtttt
     3901 gtttgttaat aaagtgcact gccaccccca a
//
LOCUS       NM_000243               3506 bp    mRNA    linear   PRI 26-JUN-2023
DEFINITION  Homo sapiens MEFV innate immunity regulator, pyrin (MEFV),
            transcript variant 1, mRNA.
ACCESSION   NM_000243
VERSION     NM_000243.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3506)
  AUTHORS   Mohebichamkhorami F, Shiari R, Afzali S and Farivar S.
  TITLE     Juvenile-onset systemic lupus erythematosus and MEFV polymorphism: A
            case-control association study among Iranian children
  JOURNAL   Reumatol Clin (Engl Ed) 19 (6), 306-311 (2023)
   PUBMED   37286266
  REMARK    GeneRIF: Juvenile-onset systemic lupus erythematosus and MEFV
            polymorphism: A case-control association study among Iranian
            children.
REFERENCE   2  (bases 1 to 3506)
  AUTHORS   Seyahi E, Ugurlu S, Amikishiyev S and Gul A.
  TITLE     Behcet disease, familial Mediterranean fever and MEFV variations:
            More than just an association
  JOURNAL   Clin Immunol 251, 109630 (2023)
   PUBMED   37216220
  REMARK    GeneRIF: Behcet disease, familial Mediterranean fever and MEFV
            variations: More than just an association. Review article
REFERENCE   3  (bases 1 to 3506)
  AUTHORS   Keller L and Rabinovitch N.
  TITLE     Post COVID recurrent fever in children with polymorphisms in the
            innate immunity regulator, pyrin; MEFV gene
  JOURNAL   J Allergy Clin Immunol Pract 11 (6), 1943-1944 (2023)
   PUBMED   36898527
  REMARK    GeneRIF: Post COVID recurrent fever in children with polymorphisms
            in the innate immunity regulator, pyrin; MEFV gene.
REFERENCE   4  (bases 1 to 3506)
  AUTHORS   Chirita D, Bronnec P, Magnotti F, Dalmon S, Martin A, Popoff M,
            Gerfaud-Valentin M, Seve P, Belot A, Contis A, Duquesne A, Nocturne
            G, Lemelle I, Georgin-Lavialle S, Boursier G, Touitou I, Jamilloux Y
            and Henry T.
  TITLE     Mutations in the B30.2 and the central helical scaffold domains of
            pyrin differentially affect inflammasome activation
  JOURNAL   Cell Death Dis 14 (3), 213 (2023)
   PUBMED   36966139
  REMARK    GeneRIF: Mutations in the B30.2 and the central helical scaffold
            domains of pyrin differentially affect inflammasome activation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3506)
  AUTHORS   Grandemange S, Soler S and Touitou I.
  TITLE     Expression of the familial Mediterranean fever gene is regulated by
            nonsense-mediated decay
  JOURNAL   Hum Mol Genet 18 (24), 4746-4755 (2009)
   PUBMED   19755381
  REMARK    GeneRIF: these results declare MEFV to be the first
            auto-inflammatory gene regulated by nonsense-mediated decay.
REFERENCE   6  (bases 1 to 3506)
  AUTHORS   Bernot A, Heilig R, Clepet C, Smaoui N, Da Silva C, Petit JL, Devaud
            C, Chiannilkulchai N, Fizames C, Samson D, Cruaud C, Caloustian C,
            Gyapay G, Delpech M and Weissenbach J.
  TITLE     A transcriptional Map of the FMF region
  JOURNAL   Genomics 50 (2), 147-160 (1998)
   PUBMED   9653642
REFERENCE   7  (bases 1 to 3506)
  AUTHORS   Pras,M.
  TITLE     Familial Mediterranean fever: from the clinical syndrome to the
            cloning of the pyrin gene
  JOURNAL   Scand J Rheumatol 27 (2), 92-97 (1998)
   PUBMED   9572633
  REMARK    Review article
REFERENCE   8  (bases 1 to 3506)
  AUTHORS   Sood R, Blake T, Aksentijevich I, Wood G, Chen X, Gardner D, Shelton
            DA, Mangelsdorf M, Orsborn A, Pras E, Balow JE Jr, Centola M, Deng
            Z, Zaks N, Chen X, Richards N, Fischel-Ghodsian N, Rotter JI, Pras
            M, Shohat M, Deaven LL, Gumucio DL, Callen DF, Richards RI, Doggett
            NA et al.
  TITLE     Construction of a 1-Mb restriction-mapped cosmid contig containing
            the candidate region for the familial Mediterranean fever locus
            (MEFV) on chromosome 16p 13.3
  JOURNAL   Genomics 42 (1), 83-95 (1997)
   PUBMED   9177779
REFERENCE   9  (bases 1 to 3506)
  AUTHORS   Dupont M, Dross C, Smaoui N, Nedelec B, Grateau G, Clepet C,
            Gourdier I, Kone-Paut I, Delpech M, Demaille J and Touitou I.
  TITLE     Genotypic diagnosis of familial Mediterranean fever (FMF) using new
            microsatellite markers: example of two extensive non-Ashkenazi
            Jewish pedigrees
  JOURNAL   J Med Genet 34 (5), 375-381 (1997)
   PUBMED   9152834
REFERENCE   10  (bases 1 to 3506)
  AUTHORS   Shohat,M.
  TITLE     Familial Mediterranean Fever
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301405
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF018080.1, Y14441.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000219596.6/ ENSP00000219596.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ003147.1, AF018080.1 and
            AK298660.1.
            On Dec 30, 2019 this sequence version replaced NM_000243.2.
            Summary: This gene encodes a protein, also known as pyrin or
            marenostrin, that is an important modulator of innate immunity.
            Mutations in this gene are associated with Mediterranean fever, a
            hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3506
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..3506
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /note="MEFV innate immunity regulator, pyrin"
                     /db_xref="GeneID:4210"
                     /db_xref="HGNC:HGNC:6998"
                     /db_xref="MIM:608107"
     CDS             47..2392
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /note="isoform 1 is encoded by transcript variant 1; pyrin;
                     marenostrin; Mediterranean fever; MEFV, pyrin innate
                     immunity regulator; MEFV innate immuity regulator, pyrin"
                     /codon_start=1
                     /product="pyrin isoform 1"
                     /protein_id="NP_000234.1"
                     /db_xref="CCDS:CCDS10498.1"
                     /db_xref="GeneID:4210"
                     /db_xref="HGNC:HGNC:6998"
                     /db_xref="MIM:608107"
                     /translation="MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQI
                     QRARPVKMATLLVTYYGEEYAVQLTLQVLRAINQRLLAEELHRAAIQEYSTQENGTDDS
                     AASSSLGENKPRSLKTPDHPEGNEGNGPRPYGGGAASLRCSQPEAGRGLSRKPLSKRRE
                     KASEGLDAQGKPRTRSPALPGGRSPGPCRALEGGQAEVRLRRNASSAGRLQGLAGGAPG
                     QKECRPFEVYLPSGKMRPRSLEVTISTGEKAPANPEILLTLEEKTAANLDSATEPRARP
                     TPDGGASADLKEGPGNPEHSVTGRPPDTAASPRCHAQEGDPVDGTCVRDSCSFPEAVSG
                     HPQASGSRSPGCPRCQDSHERKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDEPICLICS
                     LSQEHQGHRVRPIEEVALEHKKKIQKQLEHLKKLRKSGEEQRSYGEEKAVSFLKQTEAL
                     KQRVQRKLEQVYYFLEQQEHFFVASLEDVGQMVGQIRKAYDTRVSQDIALLDALIGELE
                     AKECQSEWELLQDIGDILHRAKTVPVPEKWTTPQEIKQKIQLLHQKSEFVEKSTKYFSE
                     TLRSEMEMFNVPELIGAQAHAVNVILDAETAYPNLIFSDDLKSVRLGNKWERLPDGPQR
                     FDSCIIVLGSPSFLSGRRYWEVEVGDKTAWILGACKTSISRKGNMTLSPENGYWVVIMM
                     KENEYQASSVPPTRLLIKEPPKRVGIFVDYRVGSISFYNVTARSHIYTFASCSFSGPLQ
                     PIFSPGTRDGGKNTAPLTICPVGGQGPD"
     misc_feature    323..724
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /note="propagated from UniProtKB/Swiss-Prot (O15553.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    770..772
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:27030597; propagated from
                     UniProtKB/Swiss-Prot (O15553.1); phosphorylation site"
     misc_feature    842..886
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /note="propagated from UniProtKB/Swiss-Prot (O15553.1);
                     Region: Interaction with RELA.
                     /evidence=ECO:0000269|PubMed:18577712"
     misc_feature    854..1012
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /note="propagated from UniProtKB/Swiss-Prot (O15553.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1034..1039
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /note="Cleavage, by CASP1. /evidence=ECO:0000305;
                     propagated from UniProtKB/Swiss-Prot (O15553.1); cleavage
                     site"
     misc_feature    1052..1165
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /note="propagated from UniProtKB/Swiss-Prot (O15553.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1304..1792
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /note="propagated from UniProtKB/Swiss-Prot (O15553.1);
                     Region: Required for homotrimerization and induction of
                     pyroptosomes. /evidence=ECO:0000269|PubMed:17964261"
     misc_feature    1304..1357
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /note="propagated from UniProtKB/Swiss-Prot (O15553.1);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     regulatory      3485..3490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /note="hexamer: AATAAA"
     polyA_site      3506
                     /gene="MEFV"
                     /gene_synonym="FMF; MEF; PAAND; TRIM20"
                     /note="major polyA site"
ORIGIN
        1 ctaccagaag ccagacagct ggctcgagcc tctcctgctc agcaccatgg ctaagacccc
       61 tagtgaccat ctgctgtcca ccctggagga gctggtgccc tatgacttcg agaagttcaa
      121 gttcaagctg cagaacacca gtgtgcagaa ggagcactcc aggatccccc ggagccagat
      181 ccagagagcc aggccggtga agatggccac tctgctggtc acctactatg gggaagagta
      241 cgccgtgcag ctcaccctgc aggtcctgcg ggccatcaac cagcgcctgc tggccgagga
      301 gctccacagg gcagccattc aggaatattc cacacaagaa aacggcacag atgattccgc
      361 agcgtccagc tccctggggg agaacaagcc caggagcctg aagactccag accaccccga
      421 ggggaacgag gggaacggcc ctcggccgta cgggggcgga gctgccagcc tgcggtgcag
      481 ccagcccgag gccgggaggg ggctgtcgag gaagcccctg agcaaacgca gagagaaggc
      541 ctcggagggc ctggacgcgc agggcaagcc tcggacccgg agcccggccc tgccgggcgg
      601 gagaagcccc ggcccctgca gggcgctaga ggggggccag gccgaggtcc ggctgcgcag
      661 aaacgccagc tccgcgggga ggctgcaggg gctggcgggg ggcgccccgg ggcagaagga
      721 gtgcaggccc ttcgaagtgt acctgccctc gggaaagatg cgacctagaa gccttgaggt
      781 caccatttct acaggggaga aggcgcccgc aaatccagaa attctcctga ctctagagga
      841 aaagacagct gcgaatctgg actcggcaac agaaccccgg gcaaggccca ctccggatgg
      901 aggggcatct gcggacctga aggaaggccc tggaaatcca gaacattcgg tcaccggaag
      961 gccaccagac acggctgcga gtccccgctg ccacgcccag gaaggagacc cagttgacgg
     1021 tacctgtgtg cgtgattcct gcagcttccc cgaggcagtt tctgggcacc cccaggcctc
     1081 aggcagccgc tcacctggct gcccccggtg ccaggactcc catgaaagga agagcccggg
     1141 aagcctaagc ccccagcccc tgccacagtg taagcgccac ctgaagcagg tccagctgct
     1201 cttctgtgag gatcacgatg agcccatctg cctcatctgc agtctgagtc aggagcacca
     1261 aggccaccgg gtgcgcccca ttgaggaggt cgccctggaa cacaagaaga aaattcagaa
     1321 gcagctggag catctgaaga agctgagaaa atcaggggag gagcagcgat cctatgggga
     1381 ggagaaggca gtgagctttc tgaaacaaac tgaagcgctg aagcagcggg tgcagaggaa
     1441 gctggagcag gtgtactact tcctggagca gcaagagcat ttctttgtgg cctcactgga
     1501 ggacgtgggc cagatggttg ggcagatcag gaaggcatat gacacccgcg tatcccagga
     1561 catcgccctg ctcgatgcgc tgattgggga actggaggcc aaggagtgcc agtcagaatg
     1621 ggaacttctg caggacattg gagacatctt gcacagggct aagacagtgc ctgtccctga
     1681 aaagtggacc actcctcaag agataaaaca aaagatccaa ctcctccacc agaagtcaga
     1741 gtttgtggag aagagcacaa agtacttctc agaaaccctg cgttcagaaa tggaaatgtt
     1801 caatgttccg gagctgattg gcgctcaggc acatgctgtt aatgtgattc tggatgcaga
     1861 aaccgcttac cccaacctca tcttctctga tgatctgaag agtgttagac ttggaaacaa
     1921 gtgggagagg ctgcctgatg gcccgcaaag atttgacagc tgtatcattg ttctgggctc
     1981 tccgagtttc ctctctggcc gccgttactg ggaggtggag gttggagaca agacagcatg
     2041 gatcctggga gcctgcaaga catccataag caggaaaggg aacatgactc tgtcgccaga
     2101 gaatggctac tgggtggtga taatgatgaa ggaaaatgag taccaggcgt ccagcgttcc
     2161 cccgacccgc ctgctaataa aggagcctcc caagcgtgtg ggcatcttcg tggactacag
     2221 agttggaagc atctcctttt acaatgtgac agccagatcc cacatctata cattcgccag
     2281 ctgctctttc tctgggcccc ttcaacctat cttcagccct gggacacgtg atggagggaa
     2341 gaacacagct cctctgacta tctgtccagt gggtggtcag gggcctgact gaatgcccaa
     2401 cactgcatct ctcttcctgc ttctggcctt gtatcttgca ttcacactca atagtcacgg
     2461 aatgccgact aggtgctagc tgctatggga aatgcaaaaa taacaaaata gttactgtgc
     2521 ccacggagcc tacccgatta tagcagaggt aagttaggaa cgaacatgtt agtcaatccg
     2581 ggtgaagaca tgtactgatg acacaccatg gatttcagag gaggaagtac ggagtcgttg
     2641 cataatccgc ccctggtggg tggcactctc aggtgctcct gaacagaaga tttggccctc
     2701 attttccctc agaaccccac ggcaaggata tatgtcccct tgttctctct gcttctgtct
     2761 tgaggatatg ggaagcctag agaaacgcaa gcagactgga ttgggataga agtatttgtg
     2821 tacctggatt aatgaactat gatttttttt tttttttttt gagaccaaat cttgctctgt
     2881 ggcccaggct ggagtgcagt ggcacgatct cagctcactg caacctccac ctcccaggtt
     2941 caagcgattc tcctgcctca gcctcctgag cagctgggat tacaggtgcg tgccaccaca
     3001 ccaggctggt tttcttgtat ttttagtaga gacgggggtt tcaccatgtt agccaggctg
     3061 gtctcgaact cctgacctca ggtgatccac ccgcctcagc ctcccaaagt gctgggatta
     3121 caggcatgag ccactgtgcc cggcctatga ttcttttttt tttttttttt tgagacaaag
     3181 ttttgctctt gtcacccagg ctggagtgca gtggtgcaat cttggctcgc aacctccgcc
     3241 tcccaggttc aagagattct cctgcctcag cctccgaagt agctgggatt acaggcgccc
     3301 gccaccatgc ccggctaatt ttttgcattt ttagtagaca tgaggtttca tcatgttggc
     3361 caggccggtc tcaaactcct gacctcaggt gatgcaccca cctcagcctc ccaaagtgca
     3421 gggattacag gcatgagcca ccatgccggg ccatgattct taagagaatt gactgggcct
     3481 catgaataaa aaaattagaa aatctg
//
LOCUS       NM_000245               6822 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens MET proto-oncogene, receptor tyrosine kinase (MET),
            transcript variant 2, mRNA.
ACCESSION   NM_000245
VERSION     NM_000245.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6822)
  AUTHORS   Bagci G, Comez D, Topel H, Yilmaz Y, Bagirsakci E, Gunes A, Bati
            Ayaz G, Tahmaz I, Bilgen M, Solmaz G, Pesen Okvur D and Atabey N.
  TITLE     c-Met activation promotes extravasation of hepatocellular carcinoma
            cells into 3D-cultured hepatocyte cells in lab-on-a-chip device
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1870 (8), 119557 (2023)
   PUBMED   37549739
  REMARK    GeneRIF: c-Met activation promotes extravasation of hepatocellular
            carcinoma cells into 3D-cultured hepatocyte cells in lab-on-a-chip
            device.
REFERENCE   2  (bases 1 to 6822)
  AUTHORS   Mazieres J, Vioix H, Pfeiffer BM, Campden RI, Chen Z, Heeg B and
            Cortot AB.
  TITLE     MET Exon 14 Skipping in NSCLC: A Systematic Literature Review of
            Epidemiology, Clinical Characteristics, and Outcomes
  JOURNAL   Clin Lung Cancer 24 (6), 483-497 (2023)
   PUBMED   37451931
  REMARK    GeneRIF: MET Exon 14 Skipping in NSCLC: A Systematic Literature
            Review of Epidemiology, Clinical Characteristics, and Outcomes.
            Review article
REFERENCE   3  (bases 1 to 6822)
  AUTHORS   Zhou Y, Cui G, Xu H, Chun J, Yang D, Zhang Z, Yang L, Wang J, Wan M,
            Calvisi DF, Lin S, Chen X and Wang H.
  TITLE     Loss of TP53 cooperates with c-MET overexpression to drive
            hepatocarcinogenesis
  JOURNAL   Cell Death Dis 14 (7), 476 (2023)
   PUBMED   37500626
  REMARK    GeneRIF: Loss of TP53 cooperates with c-MET overexpression to drive
            hepatocarcinogenesis. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6822)
  AUTHORS   Xia H, Zhang J, Chen T, Wang M, Chen D, Si T and Liu Y.
  TITLE     Molecular characterization of MET fusions from a large real-world
            Chinese population: A multicenter study
  JOURNAL   Cancer Med 12 (13), 14015-14024 (2023)
   PUBMED   37326363
  REMARK    GeneRIF: Molecular characterization of MET fusions from a large
            real-world Chinese population: A multicenter study.
REFERENCE   5  (bases 1 to 6822)
  AUTHORS   Atanelishvili I, Shirai Y, Akter T, Buckner T, Noguchi A, Silver RM
            and Bogatkevich GS.
  TITLE     M10, a caspase cleavage product of the hepatocyte growth factor
            receptor, interacts with Smad2 and demonstrates antifibrotic
            properties in vitro and in vivo
  JOURNAL   Transl Res 170, 99-111 (2016)
   PUBMED   26772959
REFERENCE   6  (bases 1 to 6822)
  AUTHORS   Skead G and Govender D.
  TITLE     Gene of the month: MET
  JOURNAL   J Clin Pathol 68 (6), 405-409 (2015)
   PUBMED   25987653
  REMARK    GeneRIF: we outline the key features of the MET gene, its protein
            product and the ligand HGF/SF, to provide an overview of this
            important signalling pathway and offer a summary of the relevant
            pathological and clinical directions of research. Review article
            Erratum:[J Clin Pathol. 2015 Jul;68(7):e2. PMID: 26093021]
REFERENCE   7  (bases 1 to 6822)
  AUTHORS   Galland F, Stefanova M, Lafage M and Birnbaum D.
  TITLE     Localization of the 5' end of the MCF2 oncogene to human chromosome
            15q15----q23
  JOURNAL   Cytogenet Cell Genet 60 (2), 114-116 (1992)
   PUBMED   1611909
REFERENCE   8  (bases 1 to 6822)
  AUTHORS   Ferracini R, Longati P, Naldini L, Vigna E and Comoglio PM.
  TITLE     Identification of the major autophosphorylation site of the
            Met/hepatocyte growth factor receptor tyrosine kinase
  JOURNAL   J Biol Chem 266 (29), 19558-19564 (1991)
   PUBMED   1655790
REFERENCE   9  (bases 1 to 6822)
  AUTHORS   Naldini L, Weidner KM, Vigna E, Gaudino G, Bardelli A, Ponzetto C,
            Narsimhan RP, Hartmann G, Zarnegar R, Michalopoulos GK et al.
  TITLE     Scatter factor and hepatocyte growth factor are indistinguishable
            ligands for the MET receptor
  JOURNAL   EMBO J 10 (10), 2867-2878 (1991)
   PUBMED   1655405
REFERENCE   10  (bases 1 to 6822)
  AUTHORS   Naldini L, Vigna E, Narsimhan RP, Gaudino G, Zarnegar R,
            Michalopoulos GK and Comoglio PM.
  TITLE     Hepatocyte growth factor (HGF) stimulates the tyrosine kinase
            activity of the receptor encoded by the proto-oncogene c-MET
  JOURNAL   Oncogene 6 (4), 501-504 (1991)
   PUBMED   1827664
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.55809.1,
            SRR1660803.200872.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000397752.8/ ENSP00000380860.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC002080.1, DB223186.1,
            X54559.1, BX648782.1 and AA278232.1.
            On May 31, 2019 this sequence version replaced NM_000245.3.
            Summary: This gene encodes a member of the receptor tyrosine kinase
            family of proteins and the product of the proto-oncogene MET. The
            encoded preproprotein is proteolytically processed to generate
            alpha and beta subunits that are linked via disulfide bonds to form
            the mature receptor. Further processing of the beta subunit results
            in the formation of the M10 peptide, which has been shown to reduce
            lung fibrosis. Binding of its ligand, hepatocyte growth factor,
            induces dimerization and activation of the receptor, which plays a
            role in cellular survival, embryogenesis, and cellular migration
            and invasion. Mutations in this gene are associated with papillary
            renal cell carcinoma, hepatocellular carcinoma, and various head
            and neck cancers. Amplification and overexpression of this gene are
            also associated with multiple human cancers. [provided by RefSeq,
            May 2016].
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice junction at the end of an exon compared to variant 1. The
            resulting isoform (b) has the same N- and C-termini but is shorter
            compared to isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6822
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.2"
     gene            1..6822
                     /gene="MET"
                     /gene_synonym="AUTS9; c-Met; DA11; DFNB97; HGFR; RCCP2"
                     /note="MET proto-oncogene, receptor tyrosine kinase"
                     /db_xref="GeneID:4233"
                     /db_xref="HGNC:HGNC:7029"
                     /db_xref="MIM:164860"
     misc_feature    295..297
                     /gene="MET"
                     /gene_synonym="AUTS9; c-Met; DA11; DFNB97; HGFR; RCCP2"
                     /note="upstream in-frame stop codon"
     CDS             397..4569
                     /gene="MET"
                     /gene_synonym="AUTS9; c-Met; DA11; DFNB97; HGFR; RCCP2"
                     /EC_number="2.7.10.1"
                     /note="isoform b preproprotein is encoded by transcript
                     variant 2; HGF receptor; scatter factor receptor; SF
                     receptor; hepatocyte growth factor receptor; HGF/SF
                     receptor; proto-oncogene c-Met; tyrosine-protein kinase
                     Met"
                     /codon_start=1
                     /product="hepatocyte growth factor receptor isoform b
                     preproprotein"
                     /protein_id="NP_000236.2"
                     /db_xref="CCDS:CCDS43636.1"
                     /db_xref="GeneID:4233"
                     /db_xref="HGNC:HGNC:7029"
                     /db_xref="MIM:164860"
                     /translation="MKAPAVLAPGILVLLFTLVQRSNGECKEALAKSEMNVNMKYQLPN
                     FTAETPIQNVILHEHHIFLGATNYIYVLNEEDLQKVAEYKTGPVLEHPDCFPCQDCSSK
                     ANLSGGVWKDNINMALVVDTYYDDQLISCGSVNRGTCQRHVFPHNHTADIQSEVHCIFS
                     PQIEEPSQCPDCVVSALGAKVLSSVKDRFINFFVGNTINSSYFPDHPLHSISVRRLKET
                     KDGFMFLTDQSYIDVLPEFRDSYPIKYVHAFESNNFIYFLTVQRETLDAQTFHTRIIRF
                     CSINSGLHSYMEMPLECILTEKRKKRSTKKEVFNILQAAYVSKPGAQLARQIGASLNDD
                     ILFGVFAQSKPDSAEPMDRSAMCAFPIKYVNDFFNKIVNKNNVRCLQHFYGPNHEHCFN
                     RTLLRNSSGCEARRDEYRTEFTTALQRVDLFMGQFSEVLLTSISTFIKGDLTIANLGTS
                     EGRFMQVVVSRSGPSTPHVNFLLDSHPVSPEVIVEHTLNQNGYTLVITGKKITKIPLNG
                     LGCRHFQSCSQCLSAPPFVQCGWCHDKCVRSEECLSGTWTQQICLPAIYKVFPNSAPLE
                     GGTRLTICGWDFGFRRNNKFDLKKTRVLLGNESCTLTLSESTMNTLKCTVGPAMNKHFN
                     MSIIISNGHGTTQYSTFSYVDPVITSISPKYGPMAGGTLLTLTGNYLNSGNSRHISIGG
                     KTCTLKSVSNSILECYTPAQTISTEFAVKLKIDLANRETSIFSYREDPIVYEIHPTKSF
                     ISGGSTITGVGKNLNSVSVPRMVINVHEAGRNFTVACQHRSNSEIICCTTPSLQQLNLQ
                     LPLKTKAFFMLDGILSKYFDLIYVHNPVFKPFEKPVMISMGNENVLEIKGNDIDPEAVK
                     GEVLKVGNKSCENIHLHSEAVLCTVPNDLLKLNSELNIEWKQAISSTVLGKVIVQPDQN
                     FTGLIAGVVSISTALLLLLGFFLWLKKRKQIKDLGSELVRYDARVHTPHLDRLVSARSV
                     SPTTEMVSNESVDYRATFPEDQFPNSSQNGSCRQVQYPLTDMSPILTSGDSDISSPLLQ
                     NTVHIDLSALNPELVQAVQHVVIGPSSLIVHFNEVIGRGHFGCVYHGTLLDNDGKKIHC
                     AVKSLNRITDIGEVSQFLTEGIIMKDFSHPNVLSLLGICLRSEGSPLVVLPYMKHGDLR
                     NFIRNETHNPTVKDLIGFGLQVAKGMKYLASKKFVHRDLAARNCMLDEKFTVKVADFGL
                     ARDMYDKEYYSVHNKTGAKLPVKWMALESLQTQKFTTKSDVWSFGVLLWELMTRGAPPY
                     PDVNTFDITVYLLQGRRLLQPEYCPDPLYEVMLKCWHPKAEMRPSFSELVSRISAIFST
                     FIGEHYVHVNATYVNVKCVAPYPSLLSSEDNADDEVDTRPASFWETS"
     sig_peptide     397..468
                     /gene="MET"
                     /gene_synonym="AUTS9; c-Met; DA11; DFNB97; HGFR; RCCP2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     469..1317
                     /gene="MET"
                     /gene_synonym="AUTS9; c-Met; DA11; DFNB97; HGFR; RCCP2"
                     /product="alpha subunit"
                     /experiment="EXISTENCE:Western blot evidence
                     [ECO:0000112][PMID:3048352]"
     mat_peptide     1318..4566
                     /gene="MET"
                     /gene_synonym="AUTS9; c-Met; DA11; DFNB97; HGFR; RCCP2"
                     /product="beta subunit"
                     /experiment="EXISTENCE:Western blot evidence
                     [ECO:0000112][PMID:3048352]"
     mat_peptide     4537..4566
                     /gene="MET"
                     /gene_synonym="AUTS9; c-Met; DA11; DFNB97; HGFR; RCCP2"
                     /product="M10 peptide"
                     /experiment="Western blot evidence
                     [ECO:0000112][PMID:17186028]"
     regulatory      6803..6808
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MET"
                     /gene_synonym="AUTS9; c-Met; DA11; DFNB97; HGFR; RCCP2"
                     /note="hexamer: ATTAAA"
     polyA_site      6822
                     /gene="MET"
                     /gene_synonym="AUTS9; c-Met; DA11; DFNB97; HGFR; RCCP2"
                     /note="major polyA site"
ORIGIN
        1 agacacgtgc tggggcgggc aggcgagcgc ctcagtctgg tcgcctggcg gtgcctccgg
       61 ccccaacgcg cccgggccgc cgcgggccgc gcgcgccgat gcccggctga gtcactggca
      121 gggcagcgcg cgtgtgggaa ggggcggagg gagtgcggcc ggcgggcggg cggggcgctg
      181 ggctcagccc ggccgcaggt gacccggagg ccctcgccgc ccgcggcgcc ccgagcgctt
      241 tgtgagcaga tgcggagccg agtggagggc gcgagccaga tgcggggcga cagctgactt
      301 gctgagagga ggcggggagg cgcggagcgc gcgtgtggtc cttgcgccgc tgacttctcc
      361 actggttcct gggcaccgaa agataaacct ctcataatga aggcccccgc tgtgcttgca
      421 cctggcatcc tcgtgctcct gtttaccttg gtgcagagga gcaatgggga gtgtaaagag
      481 gcactagcaa agtccgagat gaatgtgaat atgaagtatc agcttcccaa cttcaccgcg
      541 gaaacaccca tccagaatgt cattctacat gagcatcaca ttttccttgg tgccactaac
      601 tacatttatg ttttaaatga ggaagacctt cagaaggttg ctgagtacaa gactgggcct
      661 gtgctggaac acccagattg tttcccatgt caggactgca gcagcaaagc caatttatca
      721 ggaggtgttt ggaaagataa catcaacatg gctctagttg tcgacaccta ctatgatgat
      781 caactcatta gctgtggcag cgtcaacaga gggacctgcc agcgacatgt ctttccccac
      841 aatcatactg ctgacataca gtcggaggtt cactgcatat tctccccaca gatagaagag
      901 cccagccagt gtcctgactg tgtggtgagc gccctgggag ccaaagtcct ttcatctgta
      961 aaggaccggt tcatcaactt ctttgtaggc aataccataa attcttctta tttcccagat
     1021 catccattgc attcgatatc agtgagaagg ctaaaggaaa cgaaagatgg ttttatgttt
     1081 ttgacggacc agtcctacat tgatgtttta cctgagttca gagattctta ccccattaag
     1141 tatgtccatg cctttgaaag caacaatttt atttacttct tgacggtcca aagggaaact
     1201 ctagatgctc agacttttca cacaagaata atcaggttct gttccataaa ctctggattg
     1261 cattcctaca tggaaatgcc tctggagtgt attctcacag aaaagagaaa aaagagatcc
     1321 acaaagaagg aagtgtttaa tatacttcag gctgcgtatg tcagcaagcc tggggcccag
     1381 cttgctagac aaataggagc cagcctgaat gatgacattc ttttcggggt gttcgcacaa
     1441 agcaagccag attctgccga accaatggat cgatctgcca tgtgtgcatt ccctatcaaa
     1501 tatgtcaacg acttcttcaa caagatcgtc aacaaaaaca atgtgagatg tctccagcat
     1561 ttttacggac ccaatcatga gcactgcttt aataggacac ttctgagaaa ttcatcaggc
     1621 tgtgaagcgc gccgtgatga atatcgaaca gagtttacca cagctttgca gcgcgttgac
     1681 ttattcatgg gtcaattcag cgaagtcctc ttaacatcta tatccacctt cattaaagga
     1741 gacctcacca tagctaatct tgggacatca gagggtcgct tcatgcaggt tgtggtttct
     1801 cgatcaggac catcaacccc tcatgtgaat tttctcctgg actcccatcc agtgtctcca
     1861 gaagtgattg tggagcatac attaaaccaa aatggctaca cactggttat cactgggaag
     1921 aagatcacga agatcccatt gaatggcttg ggctgcagac atttccagtc ctgcagtcaa
     1981 tgcctctctg ccccaccctt tgttcagtgt ggctggtgcc acgacaaatg tgtgcgatcg
     2041 gaggaatgcc tgagcgggac atggactcaa cagatctgtc tgcctgcaat ctacaaggtt
     2101 ttcccaaata gtgcacccct tgaaggaggg acaaggctga ccatatgtgg ctgggacttt
     2161 ggatttcgga ggaataataa atttgattta aagaaaacta gagttctcct tggaaatgag
     2221 agctgcacct tgactttaag tgagagcacg atgaatacat tgaaatgcac agttggtcct
     2281 gccatgaata agcatttcaa tatgtccata attatttcaa atggccacgg gacaacacaa
     2341 tacagtacat tctcctatgt ggatcctgta ataacaagta tttcgccgaa atacggtcct
     2401 atggctggtg gcactttact tactttaact ggaaattacc taaacagtgg gaattctaga
     2461 cacatttcaa ttggtggaaa aacatgtact ttaaaaagtg tgtcaaacag tattcttgaa
     2521 tgttataccc cagcccaaac catttcaact gagtttgctg ttaaattgaa aattgactta
     2581 gccaaccgag agacaagcat cttcagttac cgtgaagatc ccattgtcta tgaaattcat
     2641 ccaaccaaat cttttattag tggtgggagc acaataacag gtgttgggaa aaacctgaat
     2701 tcagttagtg tcccgagaat ggtcataaat gtgcatgaag caggaaggaa ctttacagtg
     2761 gcatgtcaac atcgctctaa ttcagagata atctgttgta ccactccttc cctgcaacag
     2821 ctgaatctgc aactccccct gaaaaccaaa gcctttttca tgttagatgg gatcctttcc
     2881 aaatactttg atctcattta tgtacataat cctgtgttta agccttttga aaagccagtg
     2941 atgatctcaa tgggcaatga aaatgtactg gaaattaagg gaaatgatat tgaccctgaa
     3001 gcagttaaag gtgaagtgtt aaaagttgga aataagagct gtgagaatat acacttacat
     3061 tctgaagccg ttttatgcac ggtccccaat gacctgctga aattgaacag cgagctaaat
     3121 atagagtgga agcaagcaat ttcttcaacc gtccttggaa aagtaatagt tcaaccagat
     3181 cagaatttca caggattgat tgctggtgtt gtctcaatat caacagcact gttattacta
     3241 cttgggtttt tcctgtggct gaaaaagaga aagcaaatta aagatctggg cagtgaatta
     3301 gttcgctacg atgcaagagt acacactcct catttggata ggcttgtaag tgcccgaagt
     3361 gtaagcccaa ctacagaaat ggtttcaaat gaatctgtag actaccgagc tacttttcca
     3421 gaagatcagt ttcctaattc atctcagaac ggttcatgcc gacaagtgca gtatcctctg
     3481 acagacatgt cccccatcct aactagtggg gactctgata tatccagtcc attactgcaa
     3541 aatactgtcc acattgacct cagtgctcta aatccagagc tggtccaggc agtgcagcat
     3601 gtagtgattg ggcccagtag cctgattgtg catttcaatg aagtcatagg aagagggcat
     3661 tttggttgtg tatatcatgg gactttgttg gacaatgatg gcaagaaaat tcactgtgct
     3721 gtgaaatcct tgaacagaat cactgacata ggagaagttt cccaatttct gaccgaggga
     3781 atcatcatga aagattttag tcatcccaat gtcctctcgc tcctgggaat ctgcctgcga
     3841 agtgaagggt ctccgctggt ggtcctacca tacatgaaac atggagatct tcgaaatttc
     3901 attcgaaatg agactcataa tccaactgta aaagatctta ttggctttgg tcttcaagta
     3961 gccaaaggca tgaaatatct tgcaagcaaa aagtttgtcc acagagactt ggctgcaaga
     4021 aactgtatgc tggatgaaaa attcacagtc aaggttgctg attttggtct tgccagagac
     4081 atgtatgata aagaatacta tagtgtacac aacaaaacag gtgcaaagct gccagtgaag
     4141 tggatggctt tggaaagtct gcaaactcaa aagtttacca ccaagtcaga tgtgtggtcc
     4201 tttggcgtgc tcctctggga gctgatgaca agaggagccc caccttatcc tgacgtaaac
     4261 acctttgata taactgttta cttgttgcaa gggagaagac tcctacaacc cgaatactgc
     4321 ccagacccct tatatgaagt aatgctaaaa tgctggcacc ctaaagccga aatgcgccca
     4381 tccttttctg aactggtgtc ccggatatca gcgatcttct ctactttcat tggggagcac
     4441 tatgtccatg tgaacgctac ttatgtgaac gtaaaatgtg tcgctccgta tccttctctg
     4501 ttgtcatcag aagataacgc tgatgatgag gtggacacac gaccagcctc cttctgggag
     4561 acatcatagt gctagtacta tgtcaaagca acagtccaca ctttgtccaa tggttttttc
     4621 actgcctgac ctttaaaagg ccatcgatat tctttgctct tgccaaaatt gcactattat
     4681 aggacttgta ttgttattta aattactgga ttctaaggaa tttcttatct gacagagcat
     4741 cagaaccaga ggcttggtcc cacaggccac ggaccaatgg cctgcagccg tgacaacact
     4801 cctgtcatat tggagtccaa aacttgaatt ctgggttgaa ttttttaaaa atcaggtacc
     4861 acttgatttc atatgggaaa ttgaagcagg aaatattgag ggcttcttga tcacagaaaa
     4921 ctcagaagag atagtaatgc tcaggacagg agcggcagcc ccagaacagg ccactcattt
     4981 agaattctag tgtttcaaaa cacttttgtg tgttgtatgg tcaataacat ttttcattac
     5041 tgatggtgtc attcacccat taggtaaaca ttccctttta aatgtttgtt tgttttttga
     5101 gacaggatct cactctgttg ccagggctgt agtgcagtgg tgtgatcata gctcactgca
     5161 acctccacct cccaggctca agcctcccga atagctggga ctacaggcgc acaccaccat
     5221 ccccggctaa tttttgtatt ttttgtagag acggggtttt gccatgttgc caaggctggt
     5281 ttcaaactcc tggactcaag aaatccaccc acctcagcct cccaaagtgc taggattaca
     5341 ggcatgagcc actgcgccca gcccttataa atttttgtat agacattcct ttggttggaa
     5401 gaatatttat aggcaataca gtcaaagttt caaaatagca tcacacaaaa catgtttata
     5461 aatgaacagg atgtaatgta catagatgac attaagaaaa tttgtatgaa ataatttagt
     5521 catcatgaaa tatttagttg tcatataaaa acccactgtt tgagaatgat gctactctga
     5581 tctaatgaat gtgaacatgt agatgttttg tgtgtatttt tttaaatgaa aactcaaaat
     5641 aagacaagta atttgttgat aaatattttt aaagataact cagcatgttt gtaaagcagg
     5701 atacatttta ctaaaaggtt cattggttcc aatcacagct cataggtaga gcaaagaaag
     5761 ggtggatgga ttgaaaagat tagcctctgt ctcggtggca ggttcccacc tcgcaagcaa
     5821 ttggaaacaa aacttttggg gagttttatt ttgcattagg gtgtgtttta tgttaagcaa
     5881 aacatacttt agaaacaaat gaaaaaggca attgaaaatc ccagctattt cacctagatg
     5941 gaatagccac cctgagcaga actttgtgat gcttcattct gtggaatttt gtgcttgcta
     6001 ctgtatagtg catgtggtgt aggttactct aactggtttt gtcgacgtaa acatttaaag
     6061 tgttatattt tttataaaaa tgtttatttt taatgatatg agaaaaattt tgttaggcca
     6121 caaaaacact gcactgtgaa cattttagaa aaggtatgtc agactgggat taatgacagc
     6181 atgattttca atgactgtaa attgcgataa ggaaatgtac tgattgccaa tacaccccac
     6241 cctcattaca tcatcaggac ttgaagccaa gggttaaccc agcaagctac aaagagggtg
     6301 tgtcacactg aaactcaata gttgagtttg gctgttgttg caggaaaatg attataacta
     6361 aaagctctct gatagtgcag agacttacca gaagacacaa ggaattgtac tgaagagcta
     6421 ttacaatcca aatattgccg tttcataaat gtaataagta atactaattc acagagtatt
     6481 gtaaatggtg gatgacaaaa gaaaatctgc tctgtggaaa gaaagaactg tctctaccag
     6541 ggtcaagagc atgaacgcat caatagaaag aactcgggga aacatcccat caacaggact
     6601 acacacttgt atatacattc ttgagaacac tgcaatgtga aaatcacgtt tgctatttat
     6661 aaacttgtcc ttagattaat gtgtctggac agattgtggg agtaagtgat tcttctaaga
     6721 attagatact tgtcactgcc tatacctgca gctgaactga atggtacttc gtatgttaat
     6781 agttgttctg ataaatcatg caattaaagt aaagtgatgc aa
//
LOCUS       NM_000246              16061 bp    mRNA    linear   PRI 24-MAY-2023
DEFINITION  Homo sapiens class II major histocompatibility complex
            transactivator (CIITA), transcript variant 2, mRNA.
ACCESSION   NM_000246
VERSION     NM_000246.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 16061)
  AUTHORS   Santharam MA, Shukla A, Levesque D, Kufer TA, Boisvert FM,
            Ramanathan S and Ilangumaran S.
  TITLE     NLRC5-CIITA Fusion Protein as an Effective Inducer of MHC-I
            Expression and Antitumor Immunity
  JOURNAL   Int J Mol Sci 24 (8), 7206 (2023)
   PUBMED   37108368
  REMARK    GeneRIF: NLRC5-CIITA Fusion Protein as an Effective Inducer of MHC-I
            Expression and Antitumor Immunity. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 16061)
  AUTHORS   Hos BJ, Tondini E, Camps MGM, Rademaker W, van den Bulk J, Ruano D,
            Janssen GMC, de Ru AH, van den Elsen PJ, de Miranda NFCC, van Veelen
            PA and Ossendorp F.
  TITLE     Cancer-specific T helper shared and neo-epitopes uncovered by
            expression of the MHC class II master regulator CIITA
  JOURNAL   Cell Rep 41 (2), 111485 (2022)
   PUBMED   36223747
  REMARK    GeneRIF: Cancer-specific T helper shared and neo-epitopes uncovered
            by expression of the MHC class II master regulator CIITA.
            Erratum:[Cell Rep. 2022 Nov 22;41(8):111680. PMID: 36417866]
REFERENCE   3  (bases 1 to 16061)
  AUTHORS   Zhu Y, Pan H, Han Y, Li T, Liu K and Wang B.
  TITLE     Novel missense variant of CIITA contributing to endometriosis
  JOURNAL   Reprod Biomed Online 45 (3), 544-551 (2022)
   PUBMED   35835655
  REMARK    GeneRIF: Novel missense variant of CIITA contributing to
            endometriosis.
REFERENCE   4  (bases 1 to 16061)
  AUTHORS   Lima SC, Gomes da Silva IIF, Nascimento DQ, de Moura RR, Mesquita
            MDS, Asano NMJ, Fernandes GV, Valente LM, Rushansky E, Mariano MHQA,
            Xavier RM, Chies JAB, Crovella S and Sandrin-Garcia P.
  TITLE     CIITA gene polymorphism (rs3087456) in systemic lupus erythematosus
            and rheumatoid arthritis: A population-based cohort study
  JOURNAL   Int J Immunogenet 48 (5), 429-434 (2021)
   PUBMED   34180145
  REMARK    GeneRIF: CIITA gene polymorphism (rs3087456) in systemic lupus
            erythematosus and rheumatoid arthritis: A population-based cohort
            study.
REFERENCE   5  (bases 1 to 16061)
  AUTHORS   Chinniah R, Sevak V, Pandi S, Ravi PM, Vijayan M, Kannan A and
            Karuppiah B.
  TITLE     HLA-DRB1 genes and the expression dynamics of HLA CIITA determine
            the susceptibility to T2DM
  JOURNAL   Immunogenetics 73 (4), 291-305 (2021)
   PUBMED   33754173
  REMARK    GeneRIF: HLA-DRB1 genes and the expression dynamics of HLA CIITA
            determine the susceptibility to T2DM.
REFERENCE   6  (bases 1 to 16061)
  AUTHORS   Riley JL, Westerheide SD, Price JA, Brown JA and Boss JM.
  TITLE     Activation of class II MHC genes requires both the X box region and
            the class II transactivator (CIITA)
  JOURNAL   Immunity 2 (5), 533-543 (1995)
   PUBMED   7749984
REFERENCE   7  (bases 1 to 16061)
  AUTHORS   Steimle V, Otten LA, Zufferey M and Mach B.
  TITLE     Complementation cloning of an MHC class II transactivator mutated in
            hereditary MHC class II deficiency (or bare lymphocyte syndrome)
  JOURNAL   Cell 75 (1), 135-146 (1993)
   PUBMED   8402893
REFERENCE   8  (bases 1 to 16061)
  AUTHORS   Mann,D.M. and Yates,P.O.
  TITLE     A quantitative study of the glia of the Purkinje cell layer of the
            cerebellum in mammals
  JOURNAL   Neuropathol Appl Neurobiol 5 (1), 71-76 (1979)
   PUBMED   107465
REFERENCE   9  (bases 1 to 16061)
  AUTHORS   Pereira,S.N., Castagna,R.C., Gressler,J.F., Marques,R.S. and
            Costa,P.S.
  TITLE     [Dura-mater valve bank]
  JOURNAL   Arq Bras Cardiol 29 (4), 277-280 (1976)
   PUBMED   1008718
REFERENCE   10  (bases 1 to 16061)
  AUTHORS   Poschlova,N., Masek,K. and Krsiak,M.
  TITLE     Effect of 5,6-dihydroxytryptamine on social behaviour in mice
            [proceedings]
  JOURNAL   Act Nerv Super (Praha) 18 (3), 229-230 (1976)
   PUBMED   1007865
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X74301.1, SRR18074968.2618058.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000324288.14/ ENSP00000316328.8
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC133065.3 and KF459560.1.
            On Aug 6, 2020 this sequence version replaced NM_000246.3.
            Summary: This gene encodes a protein with an acidic transcriptional
            activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding
            domain. The protein is located in the nucleus and acts as a
            positive regulator of class II major histocompatibility complex
            gene transcription, and is referred to as the 'master control
            factor' for the expression of these genes. The protein also binds
            GTP and uses GTP binding to facilitate its own transport into the
            nucleus. Once in the nucleus it does not bind DNA but rather uses
            an intrinsic acetyltransferase (AT) activity to act in a
            coactivator-like fashion. Mutations in this gene have been
            associated with bare lymphocyte syndrome type II (also known as
            hereditary MHC class II deficiency or HLA class II-deficient
            combined immunodeficiency), increased susceptibility to rheumatoid
            arthritis, multiple sclerosis, and possibly myocardial infarction.
            Several transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Nov 2013].
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice junction at the 5' end of an exon compared to variant 1. The
            resulting isoform (2) is 1 aa shorter compared to isoform 1.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..16061
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.13"
     gene            1..16061
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /note="class II major histocompatibility complex
                     transactivator"
                     /db_xref="GeneID:4261"
                     /db_xref="HGNC:HGNC:7067"
                     /db_xref="MIM:600005"
     misc_feature    34..36
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /note="upstream in-frame stop codon"
     CDS             130..3522
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /EC_number="2.7.11.1"
                     /note="isoform 2 is encoded by transcript variant 2; NLR
                     family, acid domain containing; nucleotide-binding
                     oligomerization domain, leucine rich repeat and acid domain
                     containing; MHC class II transactivator type III"
                     /codon_start=1
                     /product="MHC class II transactivator isoform 2"
                     /protein_id="NP_000237.2"
                     /db_xref="CCDS:CCDS10544.1"
                     /db_xref="GeneID:4261"
                     /db_xref="HGNC:HGNC:7067"
                     /db_xref="MIM:600005"
                     /translation="MRCLAPRPAGSYLSEPQGSSQCATMELGPLEGGYLELLNSDADPL
                     CLYHFYDQMDLAGEEEIELYSEPDTDTINCDQFSRLLCDMEGDEETREAYANIAELDQY
                     VFQDSQLEGLSKDIFKHIGPDEVIGESMEMPAEVGQKSQKRPFPEELPADLKHWKPAEP
                     PTVVTGSLLVGPVSDCSTLPCLPLPALFNQEPASGQMRLEKTDQIPMPFSSSSLSCLNL
                     PEGPIQFVPTISTLPHGLWQISEAGTGVSSIFIYHGEVPQASQVPPPSGFTVHGLPTSP
                     DRPGSTSPFAPSATDLPSMPEPALTSRANMTEHKTSPTQCPAAGEVSNKLPKWPEPVEQ
                     FYRSLQDTYGAEPAGPDGILVEVDLVQARLERSSSKSLERELATPDWAERQLAQGGLAE
                     VLLAAKEHRRPRETRVIAVLGKAGQGKSYWAGAVSRAWACGRLPQYDFVFSVPCHCLNR
                     PGDAYGLQDLLFSLGPQPLVAADEVFSHILKRPDRVLLILDGFEELEAQDGFLHSTCGP
                     APAEPCSLRGLLAGLFQKKLLRGCTLLLTARPRGRLVQSLSKADALFELSGFSMEQAQA
                     YVMRYFESSGMTEHQDRALTLLRDRPLLLSHSHSPTLCRAVCQLSEALLELGEDAKLPS
                     TLTGLYVGLLGRAALDSPPGALAELAKLAWELGRRHQSTLQEDQFPSADVRTWAMAKGL
                     VQHPPRAAESELAFPSFLLQCFLGALWLALSGEIKDKELPQYLALTPRKKRPYDNWLEG
                     VPRFLAGLIFQPPARCLGALLGPSAAASVDRKQKVLARYLKRLQPGTLRARQLLELLHC
                     AHEAEEAGIWQHVVQELPGRLSFLGTRLTPPDAHVLGKALEAAGQDFSLDLRSTGICPS
                     GLGSLVGLSCVTRFRAALSDTVALWESLQQHGETKLLQAAEEKFTIEPFKAKSLKDVED
                     LGKLVQTQRTRSSSEDTAGELPAVRDLKKLEFALGPVSGPQAFPKLVRILTAFSSLQHL
                     DLDALSENKIGDEGVSQLSATFPQLKSLETLNLSQNNITDLGAYKLAEALPSLAASLLR
                     LSLYNNCICDVGAESLARVLPDMVSLRVMDVQYNKFTAAGAQQLAASLRRCPHVETLAM
                     WTPTIPFSVQEHLQQQDSRISLR"
     misc_feature    409..525
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P33076.3);
                     Region: Required for acetyltransferase activity"
     misc_feature    934..1038
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P33076.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3082..3153
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P33076.3);
                     Region: LRR 1"
     misc_feature    3175..3240
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P33076.3);
                     Region: LRR 2"
     misc_feature    3262..3327
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P33076.3);
                     Region: LRR 3"
     misc_feature    3346..3408
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P33076.3);
                     Region: LRR 4"
     regulatory      4508..4513
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /note="hexamer: TATAAA"
     polyA_site      4529
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /note="major polyA site"
     regulatory      11930..11935
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /note="hexamer: AATGAA"
     polyA_site      11948
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /note="major polyA site"
     regulatory      15924..15929
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /note="hexamer: AATAAA"
     polyA_site      15949
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
     regulatory      16034..16039
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
                     /note="hexamer: AATAAA"
     polyA_site      16061
                     /gene="CIITA"
                     /gene_synonym="C2TA; CIITAIV; MHC2TA; NLRA"
ORIGIN
        1 agtgatgagg ctagtgatga ggctgtgtgc ttctgagctg ggcatccgaa ggcatccttg
       61 gggaagctga gggcacgagg aggggctgcc agactccggg agctgctgcc tggctgggat
      121 tcctacacaa tgcgttgcct ggctccacgc cctgctgggt cctacctgtc agagccccaa
      181 ggcagctcac agtgtgccac catggagttg gggcccctag aaggtggcta cctggagctt
      241 cttaacagcg atgctgaccc cctgtgcctc taccacttct atgaccagat ggacctggct
      301 ggagaagaag agattgagct ctactcagaa cccgacacag acaccatcaa ctgcgaccag
      361 ttcagcaggc tgttgtgtga catggaaggt gatgaagaga ccagggaggc ttatgccaat
      421 atcgcggaac tggaccagta tgtcttccag gactcccagc tggagggcct gagcaaggac
      481 attttcaagc acataggacc agatgaagtg atcggtgaga gtatggagat gccagcagaa
      541 gttgggcaga aaagtcagaa aagacccttc ccagaggagc ttccggcaga cctgaagcac
      601 tggaagccag ctgagccccc cactgtggtg actggcagtc tcctagtggg accagtgagc
      661 gactgctcca ccctgccctg cctgccactg cctgcgctgt tcaaccagga gccagcctcc
      721 ggccagatgc gcctggagaa aaccgaccag attcccatgc ctttctccag ttcctcgttg
      781 agctgcctga atctccctga gggacccatc cagtttgtcc ccaccatctc cactctgccc
      841 catgggctct ggcaaatctc tgaggctgga acaggggtct ccagtatatt catctaccat
      901 ggtgaggtgc cccaggccag ccaagtaccc cctcccagtg gattcactgt ccacggcctc
      961 ccaacatctc cagaccggcc aggctccacc agccccttcg ctccatcagc cactgacctg
     1021 cccagcatgc ctgaacctgc cctgacctcc cgagcaaaca tgacagagca caagacgtcc
     1081 cccacccaat gcccggcagc tggagaggtc tccaacaagc ttccaaaatg gcctgagccg
     1141 gtggagcagt tctaccgctc actgcaggac acgtatggtg ccgagcccgc aggcccggat
     1201 ggcatcctag tggaggtgga tctggtgcag gccaggctgg agaggagcag cagcaagagc
     1261 ctggagcggg aactggccac cccggactgg gcagaacggc agctggccca aggaggcctg
     1321 gctgaggtgc tgttggctgc caaggagcac cggcggccgc gtgagacacg agtgattgct
     1381 gtgctgggca aagctggtca gggcaagagc tattgggctg gggcagtgag ccgggcctgg
     1441 gcttgtggcc ggcttcccca gtacgacttt gtcttctctg tcccctgcca ttgcttgaac
     1501 cgtccggggg atgcctatgg cctgcaggat ctgctcttct ccctgggccc acagccactc
     1561 gtggcggccg atgaggtttt cagccacatc ttgaagagac ctgaccgcgt tctgctcatc
     1621 ctagacggct tcgaggagct ggaagcgcaa gatggcttcc tgcacagcac gtgcggaccg
     1681 gcaccggcgg agccctgctc cctccggggg ctgctggccg gccttttcca gaagaagctg
     1741 ctccgaggtt gcaccctcct cctcacagcc cggccccggg gccgcctggt ccagagcctg
     1801 agcaaggccg acgccctatt tgagctgtcc ggcttctcca tggagcaggc ccaggcatac
     1861 gtgatgcgct actttgagag ctcagggatg acagagcacc aagacagagc cctgacgctc
     1921 ctccgggacc ggccacttct tctcagtcac agccacagcc ctactttgtg ccgggcagtg
     1981 tgccagctct cagaggccct gctggagctt ggggaggacg ccaagctgcc ctccacgctc
     2041 acgggactct atgtcggcct gctgggccgt gcagccctcg acagcccccc cggggccctg
     2101 gcagagctgg ccaagctggc ctgggagctg ggccgcagac atcaaagtac cctacaggag
     2161 gaccagttcc catccgcaga cgtgaggacc tgggcgatgg ccaaaggctt agtccaacac
     2221 ccaccgcggg ccgcagagtc cgagctggcc ttccccagct tcctcctgca atgcttcctg
     2281 ggggccctgt ggctggctct gagtggcgaa atcaaggaca aggagctccc gcagtaccta
     2341 gcattgaccc caaggaagaa gaggccctat gacaactggc tggagggcgt gccacgcttt
     2401 ctggctgggc tgatcttcca gcctcccgcc cgctgcctgg gagccctact cgggccatcg
     2461 gcggctgcct cggtggacag gaagcagaag gtgcttgcga ggtacctgaa gcggctgcag
     2521 ccggggacac tgcgggcgcg gcagctgctg gagctgctgc actgcgccca cgaggccgag
     2581 gaggctggaa tttggcagca cgtggtacag gagctccccg gccgcctctc ttttctgggc
     2641 acccgcctca cgcctcctga tgcacatgta ctgggcaagg ccttggaggc ggcgggccaa
     2701 gacttctccc tggacctccg cagcactggc atttgcccct ctggattggg gagcctcgtg
     2761 ggactcagct gtgtcacccg tttcagggct gccttgagcg acacggtggc gctgtgggag
     2821 tccctgcagc agcatgggga gaccaagcta cttcaggcag cagaggagaa gttcaccatc
     2881 gagcctttca aagccaagtc cctgaaggat gtggaagacc tgggaaagct tgtgcagact
     2941 cagaggacga gaagttcctc ggaagacaca gctggggagc tccctgctgt tcgggaccta
     3001 aagaaactgg agtttgcgct gggccctgtc tcaggccccc aggctttccc caaactggtg
     3061 cggatcctca cggccttttc ctccctgcag catctggacc tggatgcgct gagtgagaac
     3121 aagatcgggg acgagggtgt ctcgcagctc tcagccacct tcccccagct gaagtccttg
     3181 gaaaccctca atctgtccca gaacaacatc actgacctgg gtgcctacaa actcgccgag
     3241 gccctgcctt cgctcgctgc atccctgctc aggctaagct tgtacaataa ctgcatctgc
     3301 gacgtgggag ccgagagctt ggctcgtgtg cttccggaca tggtgtccct ccgggtgatg
     3361 gacgtccagt acaacaagtt cacggctgcc ggggcccagc agctcgctgc cagccttcgg
     3421 aggtgtcctc atgtggagac gctggcgatg tggacgccca ccatcccatt cagtgtccag
     3481 gaacacctgc aacaacagga ttcacggatc agcctgagat gatcccagct gtgctctgga
     3541 caggcatgtt ctctgaggac actaaccacg ctggaccttg aactgggtac ttgtggacac
     3601 agctcttctc caggctgtat cccatgagcc tcagcatcct ggcacccggc ccctgctggt
     3661 tcagggttgg cccctgcccg gctgcggaat gaaccacatc ttgctctgct gacagacaca
     3721 ggcccggctc caggctcctt tagcgcccag ttgggtggat gcctggtggc agctgcggtc
     3781 cacccaggag ccccgaggcc ttctctgaag gacattgcgg acagccacgg ccaggccaga
     3841 gggagtgaca gaggcagccc cattctgcct gcccaggccc ctgccaccct ggggagaaag
     3901 tacttctttt tttttatttt tagacagagt ctcactgttg cccaggctgg cgtgcagtgg
     3961 tgcgatctgg gttcactgca acctccgcct cttgggttca agcgattctt ctgcttcagc
     4021 ctcccgagta gctgggacta caggcaccca ccatcatgtc tggctaattt ttcattttta
     4081 gtagagacag ggttttgcca tgttggccag gctggtctca aactcttgac ctcaggtgat
     4141 ccacccacct cagcctccca aagtgctggg attacaagcg tgagccactg caccgggcca
     4201 cagagaaagt acttctccac cctgctctcc gaccagacac cttgacaggg cacaccgggc
     4261 actcagaaga cactgatggg caacccccag cctgctaatt ccccagattg caacaggctg
     4321 ggcttcagtg gcagctgctt ttgtctatgg gactcaatgc actgacattg ttggccaaag
     4381 ccaaagctag gcctggccag atgcaccagc ccttagcagg gaaacagcta atgggacact
     4441 aatggggcgg tgagagggga acagactgga agcacagctt catttcctgt gtcttttttc
     4501 actacattat aaatgtctct ttaatgtcac aggcaggtcc agggtttgag ttcataccct
     4561 gttaccattt tggggtaccc actgctctgg ttatctaata tgtaacaagc caccccaaat
     4621 catagtggct taaaacaaca ctcacattta ttctgctcac atatctgtca tttgagcagg
     4681 gctcagcggg gacagctcct tctgtcctac tctgtgtcag gtggggcagc ttgagggttg
     4741 ggctggtgtc acctgaagac tcattcttct gtacgtctga caggcaatgc tggctgttgg
     4801 ctgggggcct cagtgccact acggaatagt tggctaggac ccctccatgt gggctagttg
     4861 ggcttcctca tagtatggtg gctgggttgg agggtgtccc aaaaagaaag gaggggatag
     4921 agagagacca cttttcataa cctagcctta gaagtcacac agtattactt ctgctacata
     4981 tatatgtttt aagaggcagg gtctcactct gtcgcccagt ctggaatgca gtggtatgat
     5041 cacggctcac tgcagcctca acctcctggg ctaagtgatc ctcccacctc agcctcccga
     5101 atagctggga ctacaggtgt gagtcaccaa gcccagttaa tctttagttt tatttttgta
     5161 gagccagggt ctcactatgt tgcccaggca ggtcttgaac tcctggcctc aagtgattct
     5221 cctgcctcag cctcccaaag tgctgggatt acaggtgtga accaccacac ccagcccact
     5281 tctgccatat tctgttggcc agtgtgacaa ggattgctac tgtcctaccc accctccttt
     5341 caccacatgt gcacatgcac gtgtgtgcac gtacacacac atacacacac acgcgtgcac
     5401 acaccagagc ccaccttggc tcaagtcctc ttttctgaga ggacttttct ttgtggcttc
     5461 ctaaaattca gtggaaaatt aattgtttgg ggatgagaaa ggttgaagca ccaaaagctt
     5521 accaagggga atgtttgcct ctgcctctga cacacagctc tgtcctggga gtgagctggt
     5581 ttttagcgga gacggagtcc caccttggct gcagggagtc cgaaagggac ttggaagctc
     5641 cgctttctac ccagcgagct gccggcacga ctgttgcttt tcactcgggc atagtctgct
     5701 cagaagcccc aattcaagac atcttagctt actcctggtg gcagtgggag ctgcctgttc
     5761 agctccagct caccagcccc agtgcccaca ggatcagtct gattcccaag ctctgctcct
     5821 ctccccagca agtgagagct gggtgtcaag agggtctgag gaatccagac ccggctgcgt
     5881 ggttgatgat ctttgcagac aggcaagcac ctcctgcctc gaactggctg caaagggtat
     5941 caggtgctgc catccaggtt cagcttgtaa atagctcagg tgtcaccctg caagggatcc
     6001 ctgcacttgc agactctaca gaggccatgg gcctcctgtg tgtgcgccta caggagtgag
     6061 cactaaggtg tgctctgatc atccactgtg ccatgtgcca ggtttttggt ctgacccact
     6121 gcttttggtc tgtgtgatga tgaaatgagg tcagagcctg cagttattaa cactaacgat
     6181 ttgttaatga tagctactgt ttattatttt atttaatttt tttgagacag agttttcact
     6241 cttattgccc acgctggagt gcagtggcat gatctcggct cactgcaacc tctgcctcct
     6301 gggttcaagc aattctccca cctcagcctc ccaagtagct gggattacag gcatgcacca
     6361 ccacgcctgg ctaatttttg tatttttagt agagatggag tttcaccatg ttggccaggc
     6421 tggtaatctg cctgccttgg cctcccaaag tgctgggatt acaggggtga gccaccgcac
     6481 ccggccacta ctgtttattt aatgagcaga tacatgcaaa gcccttatca cagtgcaagg
     6541 gaaattcaaa gcgctcagaa agtattagct caataagtga tgactgtgtg ccagacactg
     6601 tgctaaactc ctactcaaga gggataagag tctaggggca agtggcagag actctagaac
     6661 gagattgcct gggctcaacg cccacctcac cacttactta tgcaagctag ttctctgtgc
     6721 ctcagtctcc tcatttgtaa aatgggcata accacagcac cttctttata ggattatgtg
     6781 aaggtgtggt gagctaatac gttaagaatt ggagctcaat aacatgttgg ctgtcattat
     6841 tacatatatc tgtgtttcat tcttgcctct ggctggaatg ttcttcccag ctctccatat
     6901 ggctgatttc tcatccttcg ggacttgccc cattctccaa ccccatcact agttttatct
     6961 ttttcactta tttatgcagt ctgctcttgt cctaggacat gagctccagg agggcgggaa
     7021 acatctcgct ttgtacactg ctgtgccctc tgtacccagc aaggcgcctg tgtataatag
     7081 gtgctcaata acataaaatg aacaaataat cctcacctaa cggtttcatt cattctgcaa
     7141 atacatactg acagcacagt catgaataag atgttcctgc cctggtgagt cttatatttt
     7201 agcaaattaa aaaaactctt tggacagggc tgccaggtga ggttggccag tctgtacact
     7261 gcacaaaggc acctgggaca agggggaaca tgggggctgc aaaccagtct gggttctgct
     7321 tgccaaactg ggagtcctgg tgtggagcct tttaacccag aggggcatct tttcgtagtt
     7381 aacgcacagt catcgtaaga tgtggataaa ttactgtctc cgtgtcacag atctaagtga
     7441 tacttatagt cacactccta taaaggaatg gacttctgac ttctttggag gacctctctg
     7501 cagggacagg cacagtgtgc cggaagtgcc cctgaacccc atttgtcagg tggtaaagcg
     7561 ctgctcggag gaatcagggc atgatagtgc aattccatgt ccagtggatt gtaagtccac
     7621 gcaccttcca aatggtcact cttcctcgca ggcctctctc tgcatacaaa tgtctccctc
     7681 ctgacgctca cctttttccc tggggctctc aaatgtcttc ttttcagatt tcgtagcttt
     7741 tctttcttta gcatcacttg agggcaagtg gtgctccaac tgtctccccc cagagttctg
     7801 ccgcctgtac tctcccacac ctcagtctcc tcgcctgtag aaaggggtca atcgtttgaa
     7861 ccctgcttca cttggtgtgt atgtgaaggt gctttgaaat caagtgctct gcaaactgga
     7921 gagaattact gcttgtattc cgtgaaacta caagctccca attccactca tttaatccct
     7981 ctcttgctct gttgcccagg ctggaatgca gtggcatgat ctcaactcac tgcaacctct
     8041 gcctccctgg tttcaagcaa ttctcctgcc tcagcctccc gagtagctgg gactataagt
     8101 gtgcgccact atgcctggct aatttttttg tatttttagt agagatgggg tttcaccgtg
     8161 gtggccaggc tggtctcgaa ctcctaacct caagtgatct gcccgcctcg gccttccaaa
     8221 gtgctgggat tacaggcatg agccaccatg ccaagccctt cccccctatc tttaatgaag
     8281 gtctaccatg tgcctgacac aggggatacc cacccccact tctatgggat tcaggcctgg
     8341 tttccagctt ggccttcagg cttttcccac cacaccccaa atgctgtccc tggcttgtgg
     8401 agtggggcag ggggccagcc tgggactttc acgccagccc gactggggca gactctctca
     8461 accccactgg atcttctgct gtttgtcagc cacaaggttc tgcctagaac tcctttcccg
     8521 aatctcaaag ttaaaaaaaa aggcagggcc ccaggggttg gagttgcata catttttttt
     8581 taatccaaag aagtaagcct cctaagtatt gcttagacag gtttatcaga attaagtagg
     8641 cacaacactc atactttcag aaaagcattt ccagccaggg gagtaacgtg gcactcacca
     8701 gcatgatgtc tgttttgcca acttgctgaa gaacgagtaa cctgaaatga aggagcgaga
     8761 atcccaccct cagcccccca acagcttcct cagcttcttt ttcttctgag tcacccctga
     8821 aacagtcgct gcatctaaga ccagcctcgg gctaaaccca gctggcctga aggctcaact
     8881 cacatcaaac ggagctggga gtcgcttttg cgtgtgtccg cagtttgaag tgtcctctcc
     8941 gaaggtgaag tgggggaagc aggtgcgctc cgggatgaag tgcagggagg caaactctgg
     9001 ctgggttcct gtaaacatcc atcgcagctg caaataatca gaagccaagg ccaggccatc
     9061 gatttgacac tgcaggcaga tgaggtcttg ggatgcctct tgcgttcccc cttctgtggg
     9121 agcaggtgcc ttcccaacct cagcactcag tcccaatctc tcttccactc tcctgggttc
     9181 aaacaggaac ctctctgttg gcacgaagct tttgagggga gcaggtctaa caagaaggaa
     9241 aaaggggggt tattagcacg gaagccccac cctgccacca ggttggctgg ggacagggac
     9301 caatccacca ggctcgggag gcttggggtg gggcagggaa gtcttcctcc atccctcaaa
     9361 tttagggaac cactgggagc cccagactca ggctgaaaat gtctttctgc aaatataaaa
     9421 ctctttttaa tgaatttgcc taatttctca gagaccctgg gctggagaac cagtgcaatg
     9481 tcacacggga gaggaaggac tgtcctgttt attgggaggg aggaggggga tgctggtgca
     9541 gcctgctcag gagtcaccca gggtctgagg gctgacttgc agctctgggc cagctgagcc
     9601 agcgctgggt agtgggcagg gcttggcaac accttccacc ttgcccggaa aaatgctttg
     9661 caacctacag gaaggcaata gccacagcca agttactcag cagccccact tggctctttc
     9721 tcccaggatg cagcatcatc tccatggcct ggccccctgg cacgtccccg tttcccactg
     9781 ccttctctgt gtgcctagcc gggtgccagt gtctctgtag cacctcgtgt tcccatgccc
     9841 aacccctctg cagccccctc aagccctgct ctgattccaa gcctcatctc ccagctcact
     9901 atcctttccg caaacttcac tgaacatctc gcagaacttg tatgttaaac atgtgacatg
     9961 tattgttgtt tgacagggtg ctattgacat ttggggtagg acaattcttg gaggtggggt
    10021 ggctgttctg ggcactgagc atttagcagc atctctggct ccaggccact aaatgccagt
    10081 agcacccctg gccactggaa caactaaaaa tgccctccta ccctatttcc aaggtcgacc
    10141 taagggggcg gaactgtttc cattgagacc catgcatcgt ataggataag aaactgaggt
    10201 tcttatcatt taataggata agaaattgag gttcagagaa gccaagtaac ctgcctaaag
    10261 atgcacagct atgagaggca aagctggcac tggcttggta ataacgatgg aaacggtctg
    10321 aatgagagca ggtaccattt cctgagctct tagcagacgc tgaggaccct gctaagtgcc
    10381 atgagacctt agcagaggct gtgggtgccc cgccccattc cctccactca ctcttccttg
    10441 caggtcgacc tgcccttctt tgctgaggcc tttctctgcc tccagagcct gcttggtcct
    10501 caggctgtaa gtgcaggcag agctaatgtc tctccatagc tgccctccac cagcctgctc
    10561 ctgagacacc tgctggccag cagcctgaag cagaatcctt tactcagatt cagccgcaca
    10621 gatgctcact gcagagatct ccaaggcctg tggtcatcct tgagcccatc tcagatttgt
    10681 gtggataggg tgttagagaa catggaatca gctggataga gtggttcatg cttgtaatcc
    10741 cagcactttg ggaggctggg gtgggaggat cacttgaggc caggagtttg agaccagcct
    10801 gggcaacaca gtgagactgt ctctataaaa aatttaaaaa ttagccaggc atagtgtagt
    10861 ctcagctact tggaaggctg aggcaggagg attgcgtgag cccagcagtt caaggctgca
    10921 gtgaactatg actgtgcccc tgcacccagc ctgggtgaca gagaccctgt ctcaaaaaaa
    10981 agagaagatg gaatcactcg gtgaggacct cactcctctc ccagtcctgt gaccacaaac
    11041 cgcatccccg acagtcccag ccaggcgcta gtctggctgt agctgccctc ttgtgtgcag
    11101 atctccagtc tgaatgggct acacgtggaa tttactaaca ctccggtttt cattgtgttt
    11161 atctgtaggg ttaccttcta tttatagcaa gtgatgccaa gtttccattt ctggtagtaa
    11221 tatagttttt cttttccaag tcgctcacac ctgtaatccc aacactttgg gaggctaagg
    11281 tgggtggatc agttgagatc aggagtttga gaccagcctg gccaacatgg cgaaatgagg
    11341 tcaagactag cctggccaac atggcgaaac cgcgtctcta ctaaaaacaa acaaacaaaa
    11401 atacaaaatt cgctgggcat ggtggcaggt gcctgaggtc ccagctactc gggaggctga
    11461 ggcagaagaa tcgcttgagc tagggaggca gaggttgcag tgagccgaga tcacgccact
    11521 gcactatagc ctaggtgaca gagtgagact ctgtctcaaa aaaacacaaa agtttctctt
    11581 ttcaaaacat tttactttaa aaggagccaa tttaaagaaa actgttaata gttcaggtaa
    11641 caggcagata caggaaaagc tgctgacagt gttgtatgag gtttgaggat tttgatccaa
    11701 gctggtccca ctcagtccat agcagagaat gaaagggccc agagagggtg gtgacctctg
    11761 cctgaagtca cacagtgagt cgaggacagg gaggtgaccc caggtttcta tgtgtagggc
    11821 gggaggatgt tctgggacac agttcaattc tcatttgtca cacactttgg ctattagaga
    11881 tcaacccctt cgctcctgtg tcttgcaatg gcagccttgg caaacgctaa atgaaaatcg
    11941 tgacaacact tgtgttatga agcatttact ttgtgttcac cttgtactac tcgaactcat
    12001 gtcttaactc acttatccct caaaaacaac tctaggaggt agggccaagt aggaccatca
    12061 tccctgcatt tcacatggag ctcagagagg ttaagcaagc cgtgcaaggc cacacagctc
    12121 ataaatggca gagccaggat ttgaaccccc gtggcctgac cccaaagccg aaaccactcg
    12181 gcactgcagg ttcgtccctt ttctctgaga tgggggtatc caatcttttg gcttccctgg
    12241 gccacagtgg aagaactgtc tggggccaca tataaaatat actaatgata gctcatgagc
    12301 taaaaaataa aacaaaatca cacacacaca cacaaaaaaa cacaaaccaa aaaaaaaatt
    12361 cttttttttt tttttttttt gagacagggt cttgctttgt cacccaggct ggagggcagt
    12421 ggcatgatct tggctcactg cagttccagg ttcaagcaat tctcatgcct cagcctcctg
    12481 agtagctggg actacaggcg catgtcacca tgcctggcta attgatgtat tttttagtag
    12541 agatggggtt tcaccatgtt ggccaggcta aaatctcata acgttttaag aaagtttatg
    12601 aatctgtgtt gggccacagt caaagccgtc ctgagctgta tgcagcctac aggccgcacc
    12661 acggattgaa caagtttctt ctaaggcatc aagagcccca ggctgaaaag caccccagag
    12721 ctggagctta tagaacccag ggcagcaggt tctccaacct tctgacatca tcagagcaca
    12781 gcagacaagt tatcagccac tagatttttt tccccctttc tgaaactgta acctttcatt
    12841 ccagccattc cccagagctg gacagaggac gtggctggct ggctggtttc tgtagtcaga
    12901 atgacagttg ggtgctagat ccccttcgtg aagcaatgtc ttagctcagt aactctgcag
    12961 agaagctgcc tggttcagga tgtggcttaa gtaagaagat ggccctggcg ttttacgcgc
    13021 actggtgggt gaggctctga aagtggtaga agggaattct ttcctagagt tcagctgccc
    13081 gctgtcctgc tcctcagggc aaatgctgtg agatctgcat ttagcctgtc tgtgctgatt
    13141 gtggttctgc cccttcctgg ctgtgtgacc tcagacaagt cacccaccct ctctgggcca
    13201 gtttcctcat ctggaaaagg ggacagtgcc caccacattg ggctgtttgt gtccatggag
    13261 tgcctgacaa tacccagcac acacgagaca tcagtacagg gtggttcctt ccctccttag
    13321 ccccacctgt tcccaggtag aaaccaatac cggcagggaa ccttctcaag gctaggggcc
    13381 ttctgaaagc agcagcactt ttcctccttc aaagaccttg ccttctagaa acccattgct
    13441 cattcctttc tccatgtacc aaaaaatcaa ttaaagtggc taaagacaga cgtcaccctc
    13501 ccctactcac gcagccattc tgatcctcca cgctggtgac aggctatgtg gcaggagggt
    13561 ctctacctta tctcagaatg aaggcatggc tggggtctgg ctgtctcctg gtggccggaa
    13621 ggagacagac ggcaaaggag aagctgcctg tctctgcaca ggtccatgtc cctgaggaaa
    13681 gccaacgtca cagagaaatg atgaccactt tctcaaacct ggcttcggat ttgcacgttg
    13741 gctgccaaag ctgatcagca gcgggctttg tgaagatgcc tggtctacca cgtgcctcca
    13801 gctggtcacg cccaagactc cctgagccct ctggaagggc agcacttgcc cagtgcctcc
    13861 ctccaggtcc tgccacatcc aagaaccacc tggactatta tttacttagt attttaaacc
    13921 aatgtacttt ttaaactcca attttttaat aagatcattt atgtcaccat ataacaccca
    13981 aagcagtaga atttgtcata cacagaaggc aatgctaaaa atacaatgaa aatggaacca
    14041 ggaagtctag cttgataccc ttggcctgta taactgagcc ttgtgccagt taaaagggca
    14101 aagcagtagg tgctcagggg gtgtcggggc cctgagagct gatctgatcc gctgctgcgt
    14161 attcactacc gccctgggac gcctccagca gaccacctca ctgggggaaa catcaggaca
    14221 gcgtggccag gagcccaatg ctgccacctc atagatgggt atctgagatg agtcatcgaa
    14281 cttctgcaag cctcagtttc ctccctggtc taatggaacc ctccttggcg gcttcacagg
    14341 gtgatgcttg gggcaggtga tggagatgtg ggagaggcag ttatttttaa ccacccagcc
    14401 aagccccttg ccaggaggga ctcccagaaa tgaagcctta cccttgaggg agttccccgc
    14461 cactccaagc ttggggcctg ggatggcagc tgtgagggca ccagcaccat ctggggactc
    14521 gctgggtacc aattatcacc gcccttgggc tacttcaaag gctgcccaca cagacacacc
    14581 ctccttggta accagtcctc aggaggaagg gcacccaagg aaagggggaa ggcttcctgg
    14641 gctagagccc cttcagggtc tgacacgcca ttgacactga ccacgtcatt cattaagcaa
    14701 gcaccaacta tacatcattc actatcccaa tctaatttgc acaagccctt aggcaggtgc
    14761 tactattatc cctgttttac agagaaggaa accgaggctt aggagatgaa gtctgaggtg
    14821 ttggtggagc tgggatttaa accaaaatat gtccaactgc aaagcatgta agtaacaatt
    14881 ttagagggta tacggaggtg accctaagta acaaggaatc acatatagtg agcaagcaat
    14941 ttgcttttca gtttttggtc aatccttatg attatttaga ggagaaagtt cagtttggtg
    15001 ctggtatatc ttatgtttat cacccgacag ttgttaatct ctttttaaca aagaatacag
    15061 gccaaggccc tgtgacttta gctggctttg gtatttggcc aaaagttaat gactttggca
    15121 gttagtgttt ttatccatgc caagcgatga tgattttctc tttagtgaca gacatttttt
    15181 aaaaaataaa ttcacataaa aaagtagttt tacagatgaa gcactaaaac tagtgcattt
    15241 catcttaaac tgcaaattat aaagggaata atagtaactt gacagtggag agacctggca
    15301 gacaccacct tcaccaactg atcaaagtta acatcgccag aaaggggaca gatggcatgt
    15361 gcctctcgat aagatgcact gaagacacac actcacttct gcaatattcc tgccaagaat
    15421 gcctcatctg aatctaatct cgagtataac catcagacaa acccaaattg agagacagtt
    15481 tacaaaacac cagccttgta ctctgcttaa tatgtcaatg tcacaagaga gaaagacaga
    15541 ctgaagagct gatccagact gaagaaggct cgagattaat gcaaaagctg atctgggatt
    15601 gcatcttgga cctcaactct ccccttttta ttgttaaggg acactactgg gacaattttt
    15661 tttttttttc gttttgagac agggtctcgc tcagtcaccc aggctggagt gcagtggtgg
    15721 aataataact cactgcagcc ttgaactccc ggactcaagc aatcctcctg cctgagcctt
    15781 ccgagtaact gggactatgg gcgtgtacca caacacctcg ctattttttt tttcctactt
    15841 tttgtagaga cggggtctca ctatgttgcc caggctggtt tcaaactcaa gtgatccttc
    15901 cacctcagcc tctataaaat ttgaataaag ttgtagatga gattggtcat aggattgtat
    15961 agtgtatcaa tattagattt gctgattttg acaaccctac tgtggttatg caaatttgtc
    16021 cttgttctaa ggaaataaat actgaattat ttaggagtaa a
//
LOCUS       NM_000248               4475 bp    mRNA    linear   PRI 23-MAR-2023
DEFINITION  Homo sapiens melanocyte inducing transcription factor (MITF),
            transcript variant 4, mRNA.
ACCESSION   NM_000248
VERSION     NM_000248.4
KEYWORDS    RefSeq; MANE Plus Clinical.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4475)
  AUTHORS   Proano-Perez E, Olle L, Guo Y, Aparicio C, Guerrero M, Munoz-Cano R
            and Martin M.
  TITLE     MITF Downregulation Induces Death in Human Mast Cell Leukemia Cells
            and Impairs IgE-Dependent Degranulation
  JOURNAL   Int J Mol Sci 24 (4), 3515 (2023)
   PUBMED   36834926
  REMARK    GeneRIF: MITF Downregulation Induces Death in Human Mast Cell
            Leukemia Cells and Impairs IgE-Dependent Degranulation. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 4475)
  AUTHORS   Stafford MYC and McKenna DJ.
  TITLE     MiR-182 Is Upregulated in Prostate Cancer and Contributes to Tumor
            Progression by Targeting MITF
  JOURNAL   Int J Mol Sci 24 (3), 1824 (2023)
   PUBMED   36768146
  REMARK    GeneRIF: MiR-182 Is Upregulated in Prostate Cancer and Contributes
            to Tumor Progression by Targeting MITF. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 4475)
  AUTHORS   Wang Y, Radfar S, Liu S, Riker AI and Khong HT.
  TITLE     Mitf-Mdel, a novel melanocyte/melanoma-specific isoform of
            microphthalmia-associated transcription factor-M, as a candidate
            biomarker for melanoma
  JOURNAL   BMC Med 8, 14 (2010)
   PUBMED   20163701
  REMARK    GeneRIF: A novel splice variant of MITF-M,named MITF-Mdel, was id'd
            and contains two in frame deletions. MITF-Mdel was widely expressed
            in melanocytes, melanoma cell lines and tissues, but almost
            undetectable in non-melanoma cell lines or PBMC from healthy donors.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4475)
  AUTHORS   Shiohara M, Shigemura T, Suzuki T, Tanaka M, Morii E, Ohtsu H,
            Shibahara S and Koike K.
  TITLE     MITF-CM, a newly identified isoform of microphthalmia-associated
            transcription factor, is expressed in cultured mast cells
  JOURNAL   Int J Lab Hematol 31 (2), 215-226 (2009)
   PUBMED   18284417
  REMARK    GeneRIF: a novel MITF isoform, MITF-CM, which possesses a unique
            amino terminus was identified.
REFERENCE   5  (bases 1 to 4475)
  AUTHORS   Hershey CL and Fisher DE.
  TITLE     Genomic analysis of the Microphthalmia locus and identification of
            the MITF-J/Mitf-J isoform
  JOURNAL   Gene 347 (1), 73-82 (2005)
   PUBMED   15715979
  REMARK    GeneRIF: The majority of isoforms were found to be broadly
            expressed, with the M- and Mc-isoforms being tissue-restricted to
            melanocytes and mast cells, respectively.
REFERENCE   6  (bases 1 to 4475)
  AUTHORS   Udono T, Yasumoto K, Takeda K, Amae S, Watanabe K, Saito H, Fuse N,
            Tachibana M, Takahashi K, Tamai M and Shibahara S.
  TITLE     Structural organization of the human microphthalmia-associated
            transcription factor gene containing four alternative promoters
  JOURNAL   Biochim Biophys Acta 1491 (1-3), 205-219 (2000)
   PUBMED   10760582
REFERENCE   7  (bases 1 to 4475)
  AUTHORS   Fuse N, Yasumoto Ki, Takeda K, Amae S, Yoshizawa M, Udono T,
            Takahashi K, Tamai M, Tomita Y, Tachibana M and Shibahara S.
  TITLE     Molecular cloning of cDNA encoding a novel microphthalmia-associated
            transcription factor isoform with a distinct amino-terminus
  JOURNAL   J Biochem 126 (6), 1043-1051 (1999)
   PUBMED   10578055
REFERENCE   8  (bases 1 to 4475)
  AUTHORS   Amae S, Fuse N, Yasumoto K, Sato S, Yajima I, Yamamoto H, Udono T,
            Durlu YK, Tamai M, Takahashi K and Shibahara S.
  TITLE     Identification of a novel isoform of microphthalmia-associated
            transcription factor that is enriched in retinal pigment epithelium
  JOURNAL   Biochem Biophys Res Commun 247 (3), 710-715 (1998)
   PUBMED   9647758
REFERENCE   9  (bases 1 to 4475)
  AUTHORS   Tachibana M, Perez-Jurado LA, Nakayama A, Hodgkinson CA, Li X,
            Schneider M, Miki T, Fex J, Francke U and Arnheiter H.
  TITLE     Cloning of MITF, the human homolog of the mouse microphthalmia gene
            and assignment to chromosome 3p14.1-p12.3
  JOURNAL   Hum Mol Genet 3 (4), 553-557 (1994)
   PUBMED   8069297
REFERENCE   10  (bases 1 to 4475)
  AUTHORS   Bard,L.A.
  TITLE     Heterogeneity in Waardenburg's syndrome. Report of a family with
            ocular albinism
  JOURNAL   Arch Ophthalmol 96 (7), 1193-1198 (1978)
   PUBMED   666627
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.543734.1,
            SRR14038195.2154460.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145893,
            SAMEA2147596 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000394351.9/ ENSP00000377880.3
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104449.3, BQ219650.1,
            Z29678.1, AL117653.1 and AW242257.1.
            On Feb 20, 2020 this sequence version replaced NM_000248.3.
            Summary: The protein encoded by this gene is a transcription factor
            that contains both basic helix-loop-helix and leucine zipper
            structural features. The encoded protein regulates melanocyte
            development and is responsible for pigment cell-specific
            transcription of the melanogenesis enzyme genes. Heterozygous
            mutations in the this gene cause auditory-pigmentary syndromes,
            such as Waardenburg syndrome type 2 and Tietz syndrome. [provided
            by RefSeq, Aug 2017].
            Transcript Variant: This variant (4) differs in the 5' UTR, the 5'
            coding region and uses an alternate, in-frame splice site in the 3'
            coding region, compared to variant 1. The resulting isoform (4),
            also known as isoform MITF-M, has a distinct N-terminus and is
            shorter than isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4475
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p13"
     gene            1..4475
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /note="melanocyte inducing transcription factor"
                     /db_xref="GeneID:4286"
                     /db_xref="HGNC:HGNC:7105"
                     /db_xref="MIM:156845"
     misc_feature    120..122
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /note="upstream in-frame stop codon"
     CDS             132..1391
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /note="isoform 4 is encoded by transcript variant 4;
                     microphthalmia-associated transcription factor; class E
                     basic helix-loop-helix protein 32; microphtalmia-associated
                     transcription factor; melanogenesis associated
                     transcription factor"
                     /codon_start=1
                     /product="microphthalmia-associated transcription factor
                     isoform 4"
                     /protein_id="NP_000239.1"
                     /db_xref="CCDS:CCDS2913.1"
                     /db_xref="GeneID:4286"
                     /db_xref="HGNC:HGNC:7105"
                     /db_xref="MIM:156845"
                     /translation="MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHA
                     NQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPG
                     MNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGL
                     PPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNIND
                     RIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHL
                     LLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTT
                     LDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPG
                     ASKTSSRRSSMSMEETEHTC"
     regulatory      4455..4460
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /note="hexamer: ATTAAA"
     polyA_site      4475
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /note="major polyA site"
ORIGIN
        1 ggtggtgtct cgggatacct tgtttatagt accttctctt tgccagtcca tcttcaaatt
       61 ggaattatag aaagtagagg gagggatagt ctaccgtctc tcactggatt ggtgccacct
      121 aaaacattgt tatgctggaa atgctagaat ataatcacta tcaggtgcag acccacctcg
      181 aaaaccccac caagtaccac atacagcaag cccaacggca gcaggtaaag cagtaccttt
      241 ctaccacttt agcaaataaa catgccaacc aagtcctgag cttgccatgt ccaaaccagc
      301 ctggcgatca tgtcatgcca ccggtgccgg ggagcagcgc acccaacagc cccatggcta
      361 tgcttacgct taactccaac tgtgaaaaag agggatttta taagtttgaa gagcaaaaca
      421 gggcagagag cgagtgccca ggcatgaaca cacattcacg agcgtcctgt atgcagatgg
      481 atgatgtaat cgatgacatc attagcctag aatcaagtta taatgaggaa atcttgggct
      541 tgatggatcc tgctttgcaa atggcaaata cgttgcctgt ctcgggaaac ttgattgatc
      601 tttatggaaa ccaaggtctg cccccaccag gcctcaccat cagcaactcc tgtccagcca
      661 accttcccaa cataaaaagg gagctcacag cgtgtatttt tcccacagag tctgaagcaa
      721 gagcactggc caaagagagg cagaaaaagg acaatcacaa cctgattgaa cgaagaagaa
      781 gatttaacat aaatgaccgc attaaagaac taggtacttt gattcccaag tcaaatgatc
      841 cagacatgcg ctggaacaag ggaaccatct taaaagcatc cgtggactat atccgaaagt
      901 tgcaacgaga acagcaacgc gcaaaagaac ttgaaaaccg acagaagaaa ctggagcacg
      961 ccaaccggca tttgttgctc agaatacagg aacttgaaat gcaggctcga gctcatggac
     1021 tttcccttat tccatccacg ggtctctgct ctccagattt ggtgaatcgg atcatcaagc
     1081 aagaacccgt tcttgagaac tgcagccaag acctccttca gcatcatgca gacctaacct
     1141 gtacaacaac tctcgatctc acggatggca ccatcacctt caacaacaac ctcggaactg
     1201 ggactgaggc caaccaagcc tatagtgtcc ccacaaaaat gggatccaaa ctggaagaca
     1261 tcctgatgga cgacaccctt tctcccgtcg gtgtcactga tccactcctt tcctcagtgt
     1321 cccccggagc ttccaaaaca agcagccgga ggagcagtat gagcatggaa gagacggagc
     1381 acacttgtta gcgaatcctc cctgcactgc attcgcacaa actgcttcct ttcttgattc
     1441 gtagatttaa taacttacct gaaggggttt tcttgataat tttcctttaa tatgaaattt
     1501 tttttcatgc tttatcaata gcccaggata tattttattt ttagaatttt gtgaaacaga
     1561 cttgtatatt ctattttaca actacaaatg cctccaaagt attgtacaaa taagtgtgca
     1621 gtatctgtga actgaattca ccacagactt tagctttctg agcaagagga ttttgcgtca
     1681 gagaaatgtc tgtccatttt tattcagggg aaacttgatt tgagattttt atgcctgtga
     1741 cttccttgga aatcaaatgt aaagtttaat tgaaagaatg taaagcaacc aaaaagaaaa
     1801 aaaaaaagaa agaaagagga aaagaaatcc atactaaccc ttttccattt tataaatgta
     1861 ttgattcatt ggtactgcct taaagataca gtacccctct agctttgttt agtctttata
     1921 ctgcaaacta tttaaagaaa tatgtattct gtaaaagaaa aaaaaaatgc ggccttttca
     1981 tgaggatcgt ctggttagaa aacataactg ataccaaccg aaactgaagg gagttagacc
     2041 aaggctctga aatataaagt ctaatcttgc tctcttttat tctgtgctgt tacagttttc
     2101 ttcatcaatg agtgtgatcc agtttttcat aagatatttt attttgaaat ggaaattaat
     2161 gtcctctcaa agtaaaatat tgaggagcac tgaaagtatg ttttactttt tttttatttt
     2221 atttttgctt ttgataagaa aaccgaactg ggcatatttc taattggctt tactattttt
     2281 atttttaaat tatgttttac tgttcatttg atttgtacag attctttatt atcattgttc
     2341 ttttcaatat atttgtatta atttgtaaga atatgcatct taaaatggca agttttccat
     2401 atttttacaa ctcactggtg gttttccgca ttctttgtac acccatgaaa gaaaactttt
     2461 atgcaaggtc ttgcatttaa aagacagctt tgcgaatatt ttgtaaatta cagtctcact
     2521 cagaactgtt tttggacaca tttaaggtgt agtattaata ggttaaaacc aggctttcta
     2581 gaaagaataa acttacatat ttatttttag gacatgaaaa tagcaatatt cttggagatt
     2641 gataaccata gcattaatac gcccattatg gtcatttaaa ttggggttta tttcagcaaa
     2701 cttgttgaat ttatttttaa gaaagaaata ctgtattggg aagttactgt tacttgataa
     2761 caatgtttta acaagaagca atgttataaa gttagtttca gtgcattatc tacttgtgta
     2821 gtcctatgca ataacagtag tgttacatgt atcaagccta gatgttttat acagatgcca
     2881 tatagtgtta tgagccaggc tgttgaatgg aatttctcag tagcagccta caactgaata
     2941 gcaagtggca taaagcatat ccattcagaa tgaagtgcct taaatatagc agtagtcttt
     3001 tttggactag cactgactga actgtaatgt aggggaaagt ttcatgatgg tatctatagt
     3061 caagacgaac atgtagcatg gtgcctatgt agacaatata agagcttcca attttccttc
     3121 agatattttt aatattaaat atattttagt gacagagtgc caacttcttt catcaggaaa
     3181 ccttattcag gagggttttt aaaaagtgtt taaatgtcaa atgtgaattg gtgatgggtg
     3241 atggagggtt cagagaggag tgatcgtcag atgtgtgaat ggacggttta ggtgaaaata
     3301 atcaactgca tagttcccat gcacgctggg caatgagaat ccttggaaac attggtgatg
     3361 ctatcagttt tatagcttta tttcttaagg gggtagggaa aattagttcc cattctttca
     3421 acccccttaa ctgtatagct cttttcctag aatagtgacg caaatctgca tgaacagcta
     3481 attgtaccat agtgttcatt gatacaatca tagcattgtc tatttttctc ttcatattta
     3541 tatggggggg agggcgctgg atgcaaaagt tgaagatcgt gatgctatga tgttagtttt
     3601 ccttagctga ttttgagggt ttttaaaaat aaagcaaggt tgactaacct acggccacgg
     3661 gaacaggacc atggttaagc aaccatatag aaagctttgt tgaaagaaag tatggcatct
     3721 tgtaccactg ccctgactgt cacaactcct aaccttgcca ttgcctgcct ccccctcccc
     3781 ttctccttaa gagacaattt ctgcaggtgg caggtgagca agcccaggag aatgctgcaa
     3841 tcttgggggt ggttttattt atttcttttt tgccaaatag agtgtggatt catttcaggg
     3901 gctagctaag ccaagaggca gtggtttggg cttgttgttt gtaacaagaa aatgatccac
     3961 accactcccc cgattcccgg gtgcagaatt gtaactcggg gttgggcctc tatatggagt
     4021 gaccaaaatg ccaaaattgt ccatctgcct ctgagtaggg caatggaaat accaaacctt
     4081 ctgactttgc caaaaagcat acaagcaacc tggtcataca taggatgaca aaattctttc
     4141 tggttgtttt taaacaataa agcaataaga acaaatacaa tacataggaa gttaaaagca
     4201 caaaggaatg aacttattaa tatttttgaa aaatgcactg ggaaaaagtt gatgtcaata
     4261 acagtataaa acagccctat ttcttgataa aaaatgacaa atgactgtct cttgcggatg
     4321 cttggtactg taatgttaat aatagtcacc tgctgttgga tgcagcaata atttctgtat
     4381 ggtccatagc actgtatatt atggatcgat attaatgtat ccaatgaaat aatcgacttg
     4441 ttcttgatag cctcattaaa gcatttggtt tttca
//
LOCUS       NM_000249               2494 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens mutL homolog 1 (MLH1), transcript variant 1, mRNA.
ACCESSION   NM_000249
VERSION     NM_000249.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2494)
  AUTHORS   Fatemi N, Tu SJ, Chung CC, Moghadam PK, Mojarad EN, Sadeghi A,
            Totonchi M, Aghdaei HA and Chang JG.
  TITLE     Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as
            potential cancer-predisposing genes in familial early-onset
            colorectal cancer
  JOURNAL   Kaohsiung J Med Sci 39 (9), 896-903 (2023)
   PUBMED   37314251
  REMARK    GeneRIF: Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as
            potential cancer-predisposing genes in familial early-onset
            colorectal cancer.
REFERENCE   2  (bases 1 to 2494)
  AUTHORS   Firnau MB, Plotz G, Zeuzem S and Brieger A.
  TITLE     Key role of phosphorylation sites in ATPase domain and Linker region
            of MLH1 for DNA binding and functionality of MutLalpha
  JOURNAL   Sci Rep 13 (1), 12503 (2023)
   PUBMED   37532794
  REMARK    GeneRIF: Key role of phosphorylation sites in ATPase domain and
            Linker region of MLH1 for DNA binding and functionality of
            MutLalpha. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2494)
  AUTHORS   Pongsavee M, Wisuwan K and Pongsavee K.
  TITLE     MLH1 rs1800734 Pathogenic Variant among Patients with Colorectal
            Cancer in the Lower Northeastern Region of Thailand
  JOURNAL   Asian Pac J Cancer Prev 24 (8), 2911-2916 (2023)
   PUBMED   37642081
  REMARK    GeneRIF: MLH1 rs1800734 Pathogenic Variant among Patients with
            Colorectal Cancer in the Lower Northeastern Region of Thailand.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2494)
  AUTHORS   Wolf K, Kosinski J, Gibson TJ, Wesch N, Dotsch V, Genuardi M,
            Cordisco EL, Zeuzem S, Brieger A and Plotz G.
  TITLE     A conserved motif in the disordered linker of human MLH1 is vital
            for DNA mismatch repair and its function is diminished by a cancer
            family mutation
  JOURNAL   Nucleic Acids Res 51 (12), 6307-6320 (2023)
   PUBMED   37224528
  REMARK    GeneRIF: A conserved motif in the disordered linker of human MLH1 is
            vital for DNA mismatch repair and its function is diminished by a
            cancer family mutation.
REFERENCE   5  (bases 1 to 2494)
  AUTHORS   Hitchins MP, Damaso E, Alvarez R, Zhou L, Hu Y, Diniz MA, Pineda M,
            Capella G, Pearlman R and Hampel H.
  TITLE     Constitutional MLH1 Methylation Is a Major Contributor to Mismatch
            Repair-Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged
            55 Years and Younger
  JOURNAL   J Natl Compr Canc Netw 21 (7), 743-752 (2023)
   PUBMED   37433431
  REMARK    GeneRIF: Constitutional MLH1 Methylation Is a Major Contributor to
            Mismatch Repair-Deficient, MLH1-Methylated Colorectal Cancer in
            Patients Aged 55 Years and Younger.
REFERENCE   6  (bases 1 to 2494)
  AUTHORS   Nystrom-Lahti M, Kristo P, Nicolaides NC, Chang SY, Aaltonen LA,
            Moisio AL, Jarvinen HJ, Mecklin JP, Kinzler KW, Vogelstein B et al.
  TITLE     Founding mutations and Alu-mediated recombination in hereditary
            colon cancer
  JOURNAL   Nat Med 1 (11), 1203-1206 (1995)
   PUBMED   7584997
REFERENCE   7  (bases 1 to 2494)
  AUTHORS   Charbonnier F, Martin C, Scotte M, Sibert L, Moreau V and Frebourg
            T.
  TITLE     Alternative splicing of MLH1 messenger RNA in human normal cells
  JOURNAL   Cancer Res 55 (9), 1839-1841 (1995)
   PUBMED   7728749
REFERENCE   8  (bases 1 to 2494)
  AUTHORS   Paraf F, Sasseville D, Watters AK, Narod S, Ginsburg O, Shibata H
            and Jothy S.
  TITLE     Clinicopathological relevance of the association between
            gastrointestinal and sebaceous neoplasms: the Muir-Torre syndrome
  JOURNAL   Hum Pathol 26 (4), 422-427 (1995)
   PUBMED   7705822
  REMARK    Review article
REFERENCE   9  (bases 1 to 2494)
  AUTHORS   Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM,
            Krush AJ, Berk T, Cohen Z, Tetu B et al.
  TITLE     The molecular basis of Turcot's syndrome
  JOURNAL   N Engl J Med 332 (13), 839-847 (1995)
   PUBMED   7661930
REFERENCE   10  (bases 1 to 2494)
  AUTHORS   Idos,G. and Valle,L.
  TITLE     Lynch Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301390
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC006850.1, U07343.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000231790.8/ ENSP00000231790.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC006850.1.
            On Nov 13, 2019 this sequence version replaced NM_000249.3.
            Summary: The protein encoded by this gene can heterodimerize with
            mismatch repair endonuclease PMS2 to form MutL alpha, part of the
            DNA mismatch repair system. When MutL alpha is bound by MutS beta
            and some accessory proteins, the PMS2 subunit of MutL alpha
            introduces a single-strand break near DNA mismatches, providing an
            entry point for exonuclease degradation. The encoded protein is
            also involved in DNA damage signaling and can heterodimerize with
            DNA mismatch repair protein MLH3 to form MutL gamma, which is
            involved in meiosis. This gene was identified as a locus frequently
            mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided
            by RefSeq, Aug 2017].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2494
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.2"
     gene            1..2494
                     /gene="MLH1"
                     /gene_synonym="COCA2; FCC2; hMLH1; HNPCC; HNPCC2; LYNCH2;
                     MLH-1; MMRCS1"
                     /note="mutL homolog 1"
                     /db_xref="GeneID:4292"
                     /db_xref="HGNC:HGNC:7127"
                     /db_xref="MIM:120436"
     CDS             31..2301
                     /gene="MLH1"
                     /gene_synonym="COCA2; FCC2; hMLH1; HNPCC; HNPCC2; LYNCH2;
                     MLH-1; MMRCS1"
                     /note="isoform 1 is encoded by transcript variant 1; DNA
                     mismatch repair protein Mlh1; mutL homolog 1, colon cancer,
                     nonpolyposis type 2"
                     /codon_start=1
                     /product="DNA mismatch repair protein Mlh1 isoform 1"
                     /protein_id="NP_000240.1"
                     /db_xref="CCDS:CCDS2663.1"
                     /db_xref="GeneID:4292"
                     /db_xref="HGNC:HGNC:7127"
                     /db_xref="MIM:120436"
                     /translation="MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKST
                     SIQVIVKEGGLKLIQIQDNGTGIRKEDLDIVCERFTTSKLQSFEDLASISTYGFRGEAL
                     ASISHVAHVTITTKTADGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIATRR
                     KALKNPSEEYGKILEVVGRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRSIFGN
                     AVSRELIEIGCEDKTLAFKMNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYA
                     AYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEESILERVQQHIESKLLGSNSS
                     RMYFTQTLLPGLAGPSGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQP
                     LSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEM
                     SEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQG
                     HEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRL
                     SEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGN
                     LIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEE
                     STLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPKHFTEDGNILQLANLPDLYKVF
                     ERC"
     misc_feature    34..36
                     /gene="MLH1"
                     /gene_synonym="COCA2; FCC2; hMLH1; HNPCC; HNPCC2; LYNCH2;
                     MLH-1; MMRCS1"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (P40692.1); acetylation site"
     misc_feature    1093..1164
                     /gene="MLH1"
                     /gene_synonym="COCA2; FCC2; hMLH1; HNPCC; HNPCC2; LYNCH2;
                     MLH-1; MMRCS1"
                     /note="propagated from UniProtKB/Swiss-Prot (P40692.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1228..1503
                     /gene="MLH1"
                     /gene_synonym="COCA2; FCC2; hMLH1; HNPCC; HNPCC2; LYNCH2;
                     MLH-1; MMRCS1"
                     /note="propagated from UniProtKB/Swiss-Prot (P40692.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1258..1980
                     /gene="MLH1"
                     /gene_synonym="COCA2; FCC2; hMLH1; HNPCC; HNPCC2; LYNCH2;
                     MLH-1; MMRCS1"
                     /note="propagated from UniProtKB/Swiss-Prot (P40692.1);
                     Region: Interaction with EXO1.
                     /evidence=ECO:0000269|PubMed:11427529,
                     ECO:0000269|PubMed:11429708, ECO:0000269|PubMed:12414623,
                     ECO:0000269|PubMed:14676842, ECO:0000269|PubMed:22753075"
     misc_feature    1441..1452
                     /gene="MLH1"
                     /gene_synonym="COCA2; FCC2; hMLH1; HNPCC; HNPCC2; LYNCH2;
                     MLH-1; MMRCS1"
                     /note="propagated from UniProtKB/Swiss-Prot (P40692.1);
                     Region: Nuclear localization signal.
                     /evidence=ECO:0000269|PubMed:29175432"
     misc_feature    1459..1461
                     /gene="MLH1"
                     /gene_synonym="COCA2; FCC2; hMLH1; HNPCC; HNPCC2; LYNCH2;
                     MLH-1; MMRCS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P40692.1);
                     phosphorylation site"
     regulatory      2470..2475
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLH1"
                     /gene_synonym="COCA2; FCC2; hMLH1; HNPCC; HNPCC2; LYNCH2;
                     MLH-1; MMRCS1"
                     /note="hexamer: AATAAA"
     regulatory      2474..2479
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLH1"
                     /gene_synonym="COCA2; FCC2; hMLH1; HNPCC; HNPCC2; LYNCH2;
                     MLH-1; MMRCS1"
                     /note="hexamer: AATAGA"
     polyA_site      2489
                     /gene="MLH1"
                     /gene_synonym="COCA2; FCC2; hMLH1; HNPCC; HNPCC2; LYNCH2;
                     MLH-1; MMRCS1"
                     /note="major polyA site"
     polyA_site      2494
                     /gene="MLH1"
                     /gene_synonym="COCA2; FCC2; hMLH1; HNPCC; HNPCC2; LYNCH2;
                     MLH-1; MMRCS1"
                     /note="major polyA site"
ORIGIN
        1 agacgtttcc ttggctcttc tggcgccaaa atgtcgttcg tggcaggggt tattcggcgg
       61 ctggacgaga cagtggtgaa ccgcatcgcg gcgggggaag ttatccagcg gccagctaat
      121 gctatcaaag agatgattga gaactgttta gatgcaaaat ccacaagtat tcaagtgatt
      181 gttaaagagg gaggcctgaa gttgattcag atccaagaca atggcaccgg gatcaggaaa
      241 gaagatctgg atattgtatg tgaaaggttc actactagta aactgcagtc ctttgaggat
      301 ttagccagta tttctaccta tggctttcga ggtgaggctt tggccagcat aagccatgtg
      361 gctcatgtta ctattacaac gaaaacagct gatggaaagt gtgcatacag agcaagttac
      421 tcagatggaa aactgaaagc ccctcctaaa ccatgtgctg gcaatcaagg gacccagatc
      481 acggtggagg acctttttta caacatagcc acgaggagaa aagctttaaa aaatccaagt
      541 gaagaatatg ggaaaatttt ggaagttgtt ggcaggtatt cagtacacaa tgcaggcatt
      601 agtttctcag ttaaaaaaca aggagagaca gtagctgatg ttaggacact acccaatgcc
      661 tcaaccgtgg acaatattcg ctccatcttt ggaaatgctg ttagtcgaga actgatagaa
      721 attggatgtg aggataaaac cctagccttc aaaatgaatg gttacatatc caatgcaaac
      781 tactcagtga agaagtgcat cttcttactc ttcatcaacc atcgtctggt agaatcaact
      841 tccttgagaa aagccataga aacagtgtat gcagcctatt tgcccaaaaa cacacaccca
      901 ttcctgtacc tcagtttaga aatcagtccc cagaatgtgg atgttaatgt gcaccccaca
      961 aagcatgaag ttcacttcct gcacgaggag agcatcctgg agcgggtgca gcagcacatc
     1021 gagagcaagc tcctgggctc caattcctcc aggatgtact tcacccagac tttgctacca
     1081 ggacttgctg gcccctctgg ggagatggtt aaatccacaa caagtctgac ctcgtcttct
     1141 acttctggaa gtagtgataa ggtctatgcc caccagatgg ttcgtacaga ttcccgggaa
     1201 cagaagcttg atgcatttct gcagcctctg agcaaacccc tgtccagtca gccccaggcc
     1261 attgtcacag aggataagac agatatttct agtggcaggg ctaggcagca agatgaggag
     1321 atgcttgaac tcccagcccc tgctgaagtg gctgccaaaa atcagagctt ggagggggat
     1381 acaacaaagg ggacttcaga aatgtcagag aagagaggac ctacttccag caaccccaga
     1441 aagagacatc gggaagattc tgatgtggaa atggtggaag atgattcccg aaaggaaatg
     1501 actgcagctt gtaccccccg gagaaggatc attaacctca ctagtgtttt gagtctccag
     1561 gaagaaatta atgagcaggg acatgaggtt ctccgggaga tgttgcataa ccactccttc
     1621 gtgggctgtg tgaatcctca gtgggccttg gcacagcatc aaaccaagtt ataccttctc
     1681 aacaccacca agcttagtga agaactgttc taccagatac tcatttatga ttttgccaat
     1741 tttggtgttc tcaggttatc ggagccagca ccgctctttg accttgccat gcttgcctta
     1801 gatagtccag agagtggctg gacagaggaa gatggtccca aagaaggact tgctgaatac
     1861 attgttgagt ttctgaagaa gaaggctgag atgcttgcag actatttctc tttggaaatt
     1921 gatgaggaag ggaacctgat tggattaccc cttctgattg acaactatgt gccccctttg
     1981 gagggactgc ctatcttcat tcttcgacta gccactgagg tgaattggga cgaagaaaag
     2041 gaatgttttg aaagcctcag taaagaatgc gctatgttct attccatccg gaagcagtac
     2101 atatctgagg agtcgaccct ctcaggccag cagagtgaag tgcctggctc cattccaaac
     2161 tcctggaagt ggactgtgga acacattgtc tataaagcct tgcgctcaca cattctgcct
     2221 cctaaacatt tcacagaaga tggaaatatc ctgcagcttg ctaacctgcc tgatctatac
     2281 aaagtctttg agaggtgtta aatatggtta tttatgcact gtgggatgtg ttcttctttc
     2341 tctgtattcc gatacaaagt gttgtatcaa agtgtgatat acaaagtgta ccaacataag
     2401 tgttggtagc acttaagact tatacttgcc ttctgatagt attcctttat acacagtgga
     2461 ttgattataa ataaatagat gtgtcttaac ataa
//
LOCUS       NM_000250               3216 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens myeloperoxidase (MPO), mRNA.
ACCESSION   NM_000250
VERSION     NM_000250.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3216)
  AUTHORS   Nettersheim FS, Schluter JD, Kreuzberg W, Mehrkens D, Grimm S,
            Nemade H, Braumann S, Hof A, Guthoff H, Peters V, Hoyer FF,
            Kargapolova Y, Lackmann JW, Muller S, Pallasch CP, Hallek M,
            Sachinidis A, Adam M, Winkels H, Baldus S, Geissen S and Mollenhauer
            M.
  TITLE     Myeloperoxidase is a critical mediator of anthracycline-induced
            cardiomyopathy
  JOURNAL   Basic Res Cardiol 118 (1), 36 (2023)
   PUBMED   37656254
  REMARK    GeneRIF: Myeloperoxidase is a critical mediator of
            anthracycline-induced cardiomyopathy. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 3216)
  AUTHORS   Nijakowski K, Jankowski J, Gruszczynski D and Surdacka A.
  TITLE     Salivary Alterations of Myeloperoxidase in Patients with Systemic
            Diseases: A Systematic Review
  JOURNAL   Int J Mol Sci 24 (15), 12078 (2023)
   PUBMED   37569455
  REMARK    GeneRIF: Salivary Alterations of Myeloperoxidase in Patients with
            Systemic Diseases: A Systematic Review. Review article Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 3216)
  AUTHORS   Meulendijks ER, Al-Shama RFM, Kawasaki M, Fabrizi B, Neefs J,
            Wesselink R, Ernault AC, Piersma S, Pham TV, Jimenez CR, Knol JC,
            van Boven WJP, Driessen AHG, de Vries TAC, van der Leeden B, Niessen
            HWM, de Boer OJ, Krul SPJ and de Groot JR.
  TITLE     Atrial epicardial adipose tissue abundantly secretes myeloperoxidase
            and activates atrial fibroblasts in patients with atrial
            fibrillation
  JOURNAL   J Transl Med 21 (1), 366 (2023)
   PUBMED   37280612
  REMARK    GeneRIF: Atrial epicardial adipose tissue abundantly secretes
            myeloperoxidase and activates atrial fibroblasts in patients with
            atrial fibrillation. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3216)
  AUTHORS   Boonpraman N, Yoon S, Kim CY, Moon JS and Yi SS.
  TITLE     NOX4 as a critical effector mediating neuroinflammatory cytokines,
            myeloperoxidase and osteopontin, specifically in astrocytes in the
            hippocampus in Parkinson's disease
  JOURNAL   Redox Biol 62, 102698 (2023)
   PUBMED   37058998
  REMARK    GeneRIF: NOX4 as a critical effector mediating neuroinflammatory
            cytokines, myeloperoxidase and osteopontin, specifically in
            astrocytes in the hippocampus in Parkinson's disease.
REFERENCE   5  (bases 1 to 3216)
  AUTHORS   Senol A and O Balin S.
  TITLE     Relationship between disease severity and myeloperoxidase in chronic
            viral hepatitis: a prospective study
  JOURNAL   Biomark Med 17 (6), 319-324 (2023)
   PUBMED   37288959
  REMARK    GeneRIF: Relationship between disease severity and myeloperoxidase
            in chronic viral hepatitis: a prospective study.
REFERENCE   6  (bases 1 to 3216)
  AUTHORS   Taylor KL, Pohl J and Kinkade JM Jr.
  TITLE     Unique autolytic cleavage of human myeloperoxidase. Implications for
            the involvement of active site MET409
  JOURNAL   J Biol Chem 267 (35), 25282-25288 (1992)
   PUBMED   1334087
REFERENCE   7  (bases 1 to 3216)
  AUTHORS   Zeng J and Fenna RE.
  TITLE     X-ray crystal structure of canine myeloperoxidase at 3 A resolution
  JOURNAL   J Mol Biol 226 (1), 185-207 (1992)
   PUBMED   1320128
REFERENCE   8  (bases 1 to 3216)
  AUTHORS   Srivastava CH, Rado TA, Bauerle D and Broxmeyer HE.
  TITLE     Regulation of human bone marrow lactoferrin and myeloperoxidase gene
            expression by tumor necrosis factor-alpha
  JOURNAL   J Immunol 146 (3), 1014-1019 (1991)
   PUBMED   1703177
REFERENCE   9  (bases 1 to 3216)
  AUTHORS   Yamada M, Hur SJ and Toda H.
  TITLE     Isolation and characterization of extracellular myeloperoxidase
            precursor in HL-60 cell cultures
  JOURNAL   Biochem Biophys Res Commun 166 (2), 852-859 (1990)
   PUBMED   2154223
REFERENCE   10  (bases 58 to 3215)
  AUTHORS   Hashinaka,K., Nishio,C., Hur,S.J., Sakiyama,F., Tsunasawa,S. and
            Yamada,M.
  TITLE     Multiple species of myeloperoxidase messenger RNAs produced by
            alternative splicing and differential polyadenylation
  JOURNAL   Biochemistry 27 (16), 5906-5914 (1988)
   PUBMED   2903767
REFERENCE   11  (bases 1 to 3216)
  AUTHORS   Morishita K, Tsuchiya M, Asano S, Kaziro Y and Nagata S.
  TITLE     Chromosomal gene structure of human myeloperoxidase and regulation
            of its expression by granulocyte colony-stimulating factor
  JOURNAL   J Biol Chem 262 (31), 15208-15213 (1987)
   PUBMED   2444596
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M19507.1, X04876.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2149004,
            SAMEA2154529 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000225275.4/ ENSP00000225275.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M19507.1 and AC004687.2.
            On May 17, 2019 this sequence version replaced NM_000250.1.
            Summary: Myeloperoxidase (MPO) is a heme protein synthesized during
            myeloid differentiation that constitutes the major component of
            neutrophil azurophilic granules. Produced as a single chain
            precursor, myeloperoxidase is subsequently cleaved into a light and
            heavy chain. The mature myeloperoxidase is a tetramer composed of 2
            light chains and 2 heavy chains. This enzyme produces hypohalous
            acids central to the microbicidal activity of neutrophils.
            [provided by RefSeq, Nov 2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..3216
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q22"
     gene            1..3216
                     /gene="MPO"
                     /note="myeloperoxidase"
                     /db_xref="GeneID:4353"
                     /db_xref="HGNC:HGNC:7218"
                     /db_xref="MIM:606989"
     misc_feature    127..129
                     /gene="MPO"
                     /note="upstream in-frame stop codon"
     CDS             178..2415
                     /gene="MPO"
                     /EC_number="1.11.2.2"
                     /codon_start=1
                     /product="myeloperoxidase precursor"
                     /protein_id="NP_000241.1"
                     /db_xref="CCDS:CCDS11604.1"
                     /db_xref="GeneID:4353"
                     /db_xref="HGNC:HGNC:7218"
                     /db_xref="MIM:606989"
                     /translation="MGVPFFSSLRCMVDLGPCWAGGLTAEMKLLLALAGLLAILATPQP
                     SEGAAPAVLGEVDTSLVLSSMEEAKQLVDKAYKERRESIKQRLRSGSASPMELLSYFKQ
                     PVAATRTAVRAADYLHVALDLLERKLRSLWRRPFNVTDVLTPAQLNVLSKSSGCAYQDV
                     GVTCPEQDKYRTITGMCNNRRSPTLGASNRAFVRWLPAEYEDGFSLPYGWTPGVKRNGF
                     PVALARAVSNEIVRFPTDQLTPDQERSLMFMQWGQLLDHDLDFTPEPAARASFVTGVNC
                     ETSCVQQPPCFPLKIPPNDPRIKNQADCIPFFRSCPACPGSNITIRNQINALTSFVDAS
                     MVYGSEEPLARNLRNMSNQLGLLAVNQRFQDNGRALLPFDNLHDDPCLLTNRSARIPCF
                     LAGDTRSSEMPELTSMHTLLLREHNRLATELKSLNPRWDGERLYQEARKIVGAMVQIIT
                     YRDYLPLVLGPTAMRKYLPTYRSYNDSVDPRIANVFTNAFRYGHTLIQPFMFRLDNRYQ
                     PMEPNPRVPLSRVFFASWRVVLEGGIDPILRGLMATPAKLNRQNQIAVDEIRERLFEQV
                     MRIGLDLPALNMQRSRDHGLPGYNAWRRFCGLPQPETVGQLGTVLRNLKLARKLMEQYG
                     TPNNIDIWMGGVSEPLKRKGRVGPLLACIIGTQFRKLRDGDRFWWENEGVFSMQQRQAL
                     AQISLPRIICDNTGITTVSKNNIFMSNSYPRDFVNCSTLPALNLASWREAS"
     sig_peptide     178..321
                     /gene="MPO"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    592..594
                     /gene="MPO"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P05164.1); glycosylation site"
     misc_feature    1144..1146
                     /gene="MPO"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16740002,
                     ECO:0000269|PubMed:20332087; propagated from
                     UniProtKB/Swiss-Prot (P05164.1); glycosylation site"
     misc_feature    1240..1242
                     /gene="MPO"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:20332087; propagated from
                     UniProtKB/Swiss-Prot (P05164.1); glycosylation site"
     misc_feature    1348..1350
                     /gene="MPO"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:20332087; propagated from
                     UniProtKB/Swiss-Prot (P05164.1); glycosylation site"
     misc_feature    1390..1392
                     /gene="MPO"
                     /note="Transition state stabilizer; propagated from
                     UniProtKB/Swiss-Prot (P05164.1); other site"
     misc_feature    1624..1626
                     /gene="MPO"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:16740002, ECO:0000269|PubMed:20332087.
                     /id=CAR_000220; propagated from UniProtKB/Swiss-Prot
                     (P05164.1); glycosylation site"
     misc_feature    2362..2364
                     /gene="MPO"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20332087; propagated from
                     UniProtKB/Swiss-Prot (P05164.1); glycosylation site"
     regulatory      3188..3193
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPO"
                     /note="hexamer: AATAAA"
     polyA_site      3216
                     /gene="MPO"
                     /note="major polyA site"
ORIGIN
        1 gacaatatca ggtgagctgt ggaggtgggg tccttggaag ctggatgaca gcagctggca
       61 aggggataag agagcagtga gcccctccct caaggaggtc tggctttatc catagacagg
      121 gccctctgag gtggggctga ggtacaaagg gggattgagc agcccaggag aagagagatg
      181 ggggttccct tcttctcttc tctcagatgc atggtggact taggaccttg ctgggctggg
      241 ggtctcactg cagagatgaa gctgcttctg gccctagcag ggctcctggc cattctggcc
      301 acgccccagc cctctgaagg tgctgctcca gctgtcctgg gggaggtgga cacctcgttg
      361 gtgctgagct ccatggagga ggccaagcag ctggtggaca aggcctacaa ggagcggcgg
      421 gaaagcatca agcagcggct tcgcagcggc tcagccagcc ccatggaact cctatcctac
      481 ttcaagcagc cggtggcagc caccaggacg gcggtgaggg ccgctgacta cctgcacgtg
      541 gctctagacc tgctggagag gaagctgcgg tccctgtggc gaaggccatt caatgtcact
      601 gatgtgctga cgcccgccca gctgaatgtg ttgtccaagt caagcggctg cgcctaccag
      661 gacgtggggg tgacttgccc ggagcaggac aaataccgca ccatcaccgg gatgtgcaac
      721 aacagacgca gccccacgct gggggcctcc aaccgtgcct ttgtgcgctg gctgccggcg
      781 gagtatgagg acggcttctc tcttccctac ggctggacgc ccggggtcaa gcgcaacggc
      841 ttcccggtgg ctctggctcg cgcggtctcc aacgagatcg tgcgcttccc cactgatcag
      901 ctgactccgg accaggagcg ctcactcatg ttcatgcaat ggggccagct gttggaccac
      961 gacctcgact tcacccctga gccggccgcc cgggcctcct tcgtcactgg cgtcaactgc
     1021 gagaccagct gcgttcagca gccgccctgc ttcccgctca agatcccgcc caatgacccc
     1081 cgcatcaaga accaagccga ctgcatcccg ttcttccgct cctgcccggc ttgccccggg
     1141 agcaacatca ccatccgcaa ccagatcaac gcgctcactt ccttcgtgga cgccagcatg
     1201 gtgtacggca gcgaggagcc cctggccagg aacctgcgca acatgtccaa ccagctgggg
     1261 ctgctggccg tcaaccagcg cttccaagac aacggccggg ccctgctgcc ctttgacaac
     1321 ctgcacgatg acccctgtct cctcaccaac cgctcagcgc gcatcccctg cttcctggca
     1381 ggggacaccc gttccagtga gatgcccgag ctcacctcca tgcacaccct cttacttcgg
     1441 gagcacaacc ggctggccac agagctcaag agcctgaacc ctaggtggga tggggagagg
     1501 ctctaccagg aagcccggaa gatcgtgggg gccatggtcc agatcatcac ttaccgggac
     1561 tacctgcccc tggtgctggg gccaacggcc atgaggaagt acctgcccac gtaccgttcc
     1621 tacaatgact cagtggaccc acgcatcgcc aacgtcttca ccaatgcctt ccgctacggc
     1681 cacaccctca tccaaccctt catgttccgc ctggacaatc ggtaccagcc catggaaccc
     1741 aacccccgtg tccccctcag cagggtcttt tttgcctcct ggagggtcgt gctggaaggt
     1801 ggcattgacc ccatcctccg gggcctcatg gccacccctg ccaagctgaa tcgtcagaac
     1861 caaattgcag tggatgagat ccgggagcga ttgtttgagc aggtcatgag gattgggctg
     1921 gacctgcctg ctctgaacat gcagcgcagc agggaccacg gcctcccagg atacaatgcc
     1981 tggaggcgct tctgtgggct cccgcagcct gaaactgtgg gccagctggg cacggtgctg
     2041 aggaacctga aattggcgag gaaactgatg gagcagtatg gcacgcccaa caacatcgac
     2101 atctggatgg gcggcgtgtc cgagcctctg aagcgcaaag gccgcgtggg cccactcctc
     2161 gcctgcatca tcggtaccca gttcaggaag ctccgggatg gtgatcggtt ttggtgggag
     2221 aacgagggtg tgttcagcat gcagcagcga caggccctgg cccagatctc attgccccgg
     2281 atcatctgcg acaacacagg catcaccacc gtgtctaaga acaacatctt catgtccaac
     2341 tcatatcccc gggactttgt caactgcagt acacttcctg cattgaacct ggcttcctgg
     2401 agggaagcct cctagaggcc aggtaagggg gtgcagcagt gaggggtata tctgggctgg
     2461 ccagttggaa ccacggagat ctccttgccc tagatgagcc cagccctgtt ctgggtgcag
     2521 ctgagaaaat gagtgactag acgttcattt gtgtgctcat gtatgtgcga agtatataaa
     2581 ttggcttttc atgcgtgtgt gttgtctgaa catggggagt gtttcatggg ttatgtgtat
     2641 gtgccattta tgtgagtgtg tgtttgtgct gatgagaata ctgagtatgt ggaaggcagc
     2701 agagcggact ggtgaggagc acagctcagg aactagactg cctgggttcc aatcctggct
     2761 ctgtggcttg ctagctatgt gaccttgagc aaattaccct ccttaaacaa gagttttctt
     2821 ccttgtaaat tacatctgtc atggtttctt ggagggccca cttgtatcct ctggttcttc
     2881 atttattgag cacctactac atgcaaggca ctgtactagg cgtgagaagc atatagaggc
     2941 aagaaagaga taccaagatg ccatctgtgt cctggttagc agagctggac cagtggtgcc
     3001 ttggagggat aagccagctg cagctgggct gtgtggttga cttatgggcc cagccagcca
     3061 ggctcaggcc atggctcccc tttttcttcc tcaccctgat ttcttgctta ttcactgaag
     3121 ttctcctgaa gaggaactgg gcctgttgcc ctttctgtac catttatttg ctcccaatgt
     3181 ttatgataat aaaggcaccg ctgatgggga cctcca
//
LOCUS       NM_000251               3115 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens mutS homolog 2 (MSH2), transcript variant 1, mRNA.
ACCESSION   NM_000251
VERSION     NM_000251.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3115)
  AUTHORS   Fatemi N, Tu SJ, Chung CC, Moghadam PK, Mojarad EN, Sadeghi A,
            Totonchi M, Aghdaei HA and Chang JG.
  TITLE     Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as
            potential cancer-predisposing genes in familial early-onset
            colorectal cancer
  JOURNAL   Kaohsiung J Med Sci 39 (9), 896-903 (2023)
   PUBMED   37314251
  REMARK    GeneRIF: Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as
            potential cancer-predisposing genes in familial early-onset
            colorectal cancer.
REFERENCE   2  (bases 1 to 3115)
  AUTHORS   Li B, Xu X, Zheng L, Jiang X, Lin J and Zhang G.
  TITLE     MiR-590-5p promotes cisplatin resistance via targeting hMSH2 in
            ovarian cancer
  JOURNAL   Mol Biol Rep 50 (8), 6819-6827 (2023)
   PUBMED   37392283
  REMARK    GeneRIF: MiR-590-5p promotes cisplatin resistance via targeting
            hMSH2 in ovarian cancer.
REFERENCE   3  (bases 1 to 3115)
  AUTHORS   Oh JM, Kang Y, Park J, Sung Y, Kim D, Seo Y, Lee EA, Ra JS,
            Amarsanaa E, Park YU, Lee SY, Hwang JM, Kim H, Scharer O, Cho SW,
            Lee C, Takata KI, Lee JY and Myung K.
  TITLE     MSH2-MSH3 promotes DNA end resection during homologous recombination
            and blocks polymerase theta-mediated end-joining through interaction
            with SMARCAD1 and EXO1
  JOURNAL   Nucleic Acids Res 51 (11), 5584-5602 (2023)
   PUBMED   37140056
  REMARK    GeneRIF: MSH2-MSH3 promotes DNA end resection during homologous
            recombination and blocks polymerase theta-mediated end-joining
            through interaction with SMARCAD1 and EXO1.
REFERENCE   4  (bases 1 to 3115)
  AUTHORS   Flaum N, Crosbie EJ, Woodward ER, Lalloo F, Morgan R, Ryan N and
            Evans DG.
  TITLE     MSH2 is the very young onset ovarian cancer predisposition gene, not
            BRCA1
  JOURNAL   J Med Genet 60 (6), 576-577 (2023)
   PUBMED   36894311
  REMARK    GeneRIF: MSH2 is the very young onset ovarian cancer predisposition
            gene, not BRCA1.
REFERENCE   5  (bases 1 to 3115)
  AUTHORS   Hu XQ, Zhang BY and Hua T.
  TITLE     hMSH2 coordinated with the expression of E2F1 promotes platinum
            response in epithelial ovarian cancer
  JOURNAL   J Int Med Res 51 (3), 3000605231163780 (2023)
   PUBMED   36994850
  REMARK    GeneRIF: hMSH2 coordinated with the expression of E2F1 promotes
            platinum response in epithelial ovarian cancer.
REFERENCE   6  (bases 1 to 3115)
  AUTHORS   Wilson TM, Ewel A, Duguid JR, Eble JN, Lescoe MK, Fishel R and
            Kelley MR.
  TITLE     Differential cellular expression of the human MSH2 repair enzyme in
            small and large intestine
  JOURNAL   Cancer Res 55 (22), 5146-5150 (1995)
   PUBMED   7585562
REFERENCE   7  (bases 1 to 3115)
  AUTHORS   Wei Q, Xu X, Cheng L, Legerski RJ and Ali-Osman F.
  TITLE     Simultaneous amplification of four DNA repair genes and beta-actin
            in human lymphocytes by multiplex reverse transcriptase-PCR
  JOURNAL   Cancer Res 55 (21), 5025-5029 (1995)
   PUBMED   7585546
REFERENCE   8  (bases 1 to 3115)
  AUTHORS   Drummond JT, Li GM, Longley MJ and Modrich P.
  TITLE     Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch
            repair to tumor cells
  JOURNAL   Science 268 (5219), 1909-1912 (1995)
   PUBMED   7604264
REFERENCE   9  (bases 1 to 3115)
  AUTHORS   Idos,G. and Valle,L.
  TITLE     Lynch Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301390
REFERENCE   10  (bases 1 to 3115)
  AUTHORS   Lynch,H.T., Schuelke,G.S., Kimberling,W.J., Albano,W.A., Lynch,J.F.,
            Biscone,K.A., Lipkin,M.L., Deschner,E.E., Mikol,Y.B., Sandberg,A.A.
            et al.
  TITLE     Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and
            II). II. Biomarker studies
  JOURNAL   Cancer 56 (4), 939-951 (1985)
   PUBMED   4016686
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC021566.1, BX649122.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000233146.7/ ENSP00000233146.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U04045.1, AK304496.1 and
            CB250419.1.
            On Aug 31, 2019 this sequence version replaced NM_000251.2.
            Summary: This locus is frequently mutated in hereditary
            nonpolyposis colon cancer (HNPCC). When cloned, it was discovered
            to be a human homolog of the E. coli mismatch repair gene mutS,
            consistent with the characteristic alterations in microsatellite
            sequences (RER+ phenotype) found in HNPCC. Two transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Apr 2012].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3115
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21-p16.3"
     gene            1..3115
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="mutS homolog 2"
                     /db_xref="GeneID:4436"
                     /db_xref="HGNC:HGNC:7325"
                     /db_xref="MIM:609309"
     misc_feature    22..24
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="upstream in-frame stop codon"
     CDS             37..2841
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="isoform 1 is encoded by transcript variant 1; mutS
                     homolog 2, colon cancer, nonpolyposis type 1; DNA mismatch
                     repair protein Msh2 transcript; MutS-like 2"
                     /codon_start=1
                     /product="DNA mismatch repair protein Msh2 isoform 1"
                     /protein_id="NP_000242.1"
                     /db_xref="CCDS:CCDS1834.1"
                     /db_xref="GeneID:4436"
                     /db_xref="HGNC:HGNC:7325"
                     /db_xref="MIM:609309"
                     /translation="MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTA
                     HGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEVYK
                     NRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGV
                     GYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIIQRGGI
                     LITERKKADFSTKDIYQDLNRLLKGKKGEQMNSAVLPEMENQVAVSSLSAVIKFLELLS
                     DDSNFGQFELTTFDFSQYMKLDIAAVRALNLFQGSVEDTTGSQSLAALLNKCKTPQGQR
                     LVNQWIKQPLMDKNRIEERLNLVEAFVEDAELRQTLQEDLLRRFPDLNRLAKKFQRQAA
                     NLQDCYRLYQGINQLPNVIQALEKHEGKHQKLLLAVFVTPLTDLRSDFSKFQEMIETTL
                     DMDQVENHEFLVKPSFDPNLSELREIMNDLEKKMQSTLISAARDLGLDPGKQIKLDSSA
                     QFGYYFRVTCKEEKVLRNNKNFSTVDIQKNGVKFTNSKLTSLNEEYTKNKTEYEEAQDA
                     IVKEIVNISSGYVEPMQTLNDVLAQLDAVVSFAHVSNGAPVPYVRPAILEKGQGRIILK
                     ASRHACVEVQDEIAFIPNDVYFEKDKQMFHIITGPNMGGKSTYIRQTGVIVLMAQIGCF
                     VPCESAEVSIVDCILARVGAGDSQLKGVSTFMAEMLETASILRSATKDSLIIIDELGRG
                     TSTYDGFGLAWAISEYIATKIGAFCMFATHFHELTALANQIPTVNNLHVTALTTEETLT
                     MLYQVKKGVCDQSFGIHVAELANFPKHVIECAKQKALELEEFQYIGESQGYDIMEPAAK
                     KCYLEREQGEKIIQEFLSKVKQMPFTEMSEENITIKLKQLKAEVIAKNNSFVNEIISRI
                     KVTT"
     misc_feature    40..42
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P43246.1); acetylation site"
     misc_feature    1699..1701
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P43246.1); acetylation site"
     misc_feature    1735..1737
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P43247; propagated from
                     UniProtKB/Swiss-Prot (P43246.1); acetylation site"
     misc_feature    1837..2049
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="propagated from UniProtKB/Swiss-Prot (P43246.1);
                     Region: Interaction with EXO1"
     misc_feature    2797..2799
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43246.1); phosphorylation site"
     regulatory      3092..3097
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="hexamer: AATAAA"
     polyA_site      3115
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="major polyA site"
ORIGIN
        1 gcattttctt caaccaggag gtgaggaggt ttcgacatgg cggtgcagcc gaaggagacg
       61 ctgcagttgg agagcgcggc cgaggtcggc ttcgtgcgct tctttcaggg catgccggag
      121 aagccgacca ccacagtgcg ccttttcgac cggggcgact tctatacggc gcacggcgag
      181 gacgcgctgc tggccgcccg ggaggtgttc aagacccagg gggtgatcaa gtacatgggg
      241 ccggcaggag caaagaatct gcagagtgtt gtgcttagta aaatgaattt tgaatctttt
      301 gtaaaagatc ttcttctggt tcgtcagtat agagttgaag tttataagaa tagagctgga
      361 aataaggcat ccaaggagaa tgattggtat ttggcatata aggcttctcc tggcaatctc
      421 tctcagtttg aagacattct ctttggtaac aatgatatgt cagcttccat tggtgttgtg
      481 ggtgttaaaa tgtccgcagt tgatggccag agacaggttg gagttgggta tgtggattcc
      541 atacagagga aactaggact gtgtgaattc cctgataatg atcagttctc caatcttgag
      601 gctctcctca tccagattgg accaaaggaa tgtgttttac ccggaggaga gactgctgga
      661 gacatgggga aactgagaca gataattcaa agaggaggaa ttctgatcac agaaagaaaa
      721 aaagctgact tttccacaaa agacatttat caggacctca accggttgtt gaaaggcaaa
      781 aagggagagc agatgaatag tgctgtattg ccagaaatgg agaatcaggt tgcagtttca
      841 tcactgtctg cggtaatcaa gtttttagaa ctcttatcag atgattccaa ctttggacag
      901 tttgaactga ctacttttga cttcagccag tatatgaaat tggatattgc agcagtcaga
      961 gcccttaacc tttttcaggg ttctgttgaa gataccactg gctctcagtc tctggctgcc
     1021 ttgctgaata agtgtaaaac ccctcaagga caaagacttg ttaaccagtg gattaagcag
     1081 cctctcatgg ataagaacag aatagaggag agattgaatt tagtggaagc ttttgtagaa
     1141 gatgcagaat tgaggcagac tttacaagaa gatttacttc gtcgattccc agatcttaac
     1201 cgacttgcca agaagtttca aagacaagca gcaaacttac aagattgtta ccgactctat
     1261 cagggtataa atcaactacc taatgttata caggctctgg aaaaacatga aggaaaacac
     1321 cagaaattat tgttggcagt ttttgtgact cctcttactg atcttcgttc tgacttctcc
     1381 aagtttcagg aaatgataga aacaacttta gatatggatc aggtggaaaa ccatgaattc
     1441 cttgtaaaac cttcatttga tcctaatctc agtgaattaa gagaaataat gaatgacttg
     1501 gaaaagaaga tgcagtcaac attaataagt gcagccagag atcttggctt ggaccctggc
     1561 aaacagatta aactggattc cagtgcacag tttggatatt actttcgtgt aacctgtaag
     1621 gaagaaaaag tccttcgtaa caataaaaac tttagtactg tagatatcca gaagaatggt
     1681 gttaaattta ccaacagcaa attgacttct ttaaatgaag agtataccaa aaataaaaca
     1741 gaatatgaag aagcccagga tgccattgtt aaagaaattg tcaatatttc ttcaggctat
     1801 gtagaaccaa tgcagacact caatgatgtg ttagctcagc tagatgctgt tgtcagcttt
     1861 gctcacgtgt caaatggagc acctgttcca tatgtacgac cagccatttt ggagaaagga
     1921 caaggaagaa ttatattaaa agcatccagg catgcttgtg ttgaagttca agatgaaatt
     1981 gcatttattc ctaatgacgt atactttgaa aaagataaac agatgttcca catcattact
     2041 ggccccaata tgggaggtaa atcaacatat attcgacaaa ctggggtgat agtactcatg
     2101 gcccaaattg ggtgttttgt gccatgtgag tcagcagaag tgtccattgt ggactgcatc
     2161 ttagcccgag taggggctgg tgacagtcaa ttgaaaggag tctccacgtt catggctgaa
     2221 atgttggaaa ctgcttctat cctcaggtct gcaaccaaag attcattaat aatcatagat
     2281 gaattgggaa gaggaacttc tacctacgat ggatttgggt tagcatgggc tatatcagaa
     2341 tacattgcaa caaagattgg tgctttttgc atgtttgcaa cccattttca tgaacttact
     2401 gccttggcca atcagatacc aactgttaat aatctacatg tcacagcact caccactgaa
     2461 gagaccttaa ctatgcttta tcaggtgaag aaaggtgtct gtgatcaaag ttttgggatt
     2521 catgttgcag agcttgctaa tttccctaag catgtaatag agtgtgctaa acagaaagcc
     2581 ctggaacttg aggagtttca gtatattgga gaatcgcaag gatatgatat catggaacca
     2641 gcagcaaaga agtgctatct ggaaagagag caaggtgaaa aaattattca ggagttcctg
     2701 tccaaggtga aacaaatgcc ctttactgaa atgtcagaag aaaacatcac aataaagtta
     2761 aaacagctaa aagctgaagt aatagcaaag aataatagct ttgtaaatga aatcatttca
     2821 cgaataaaag ttactacgtg aaaaatccca gtaatggaat gaaggtaata ttgataagct
     2881 attgtctgta atagttttat attgttttat attaaccctt tttccatagt gttaactgtc
     2941 agtgcccatg ggctatcaac ttaataagat atttagtaat attttacttt gaggacattt
     3001 tcaaagattt ttattttgaa aaatgagagc tgtaactgag gactgtttgc aattgacata
     3061 ggcaataata agtgatgtgc tgaattttat aaataaaatc atgtagtttg tggaa
//
LOCUS       NM_000252               3412 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens myotubularin 1 (MTM1), transcript variant 5, mRNA.
ACCESSION   NM_000252
VERSION     NM_000252.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3412)
  AUTHORS   Perdreau-Dahl H, Lipsett DB, Frisk M, Kermani F, Carlson CR, Brech
            A, Shen X, Bergan-Dahl A, Hou Y, Tuomainen T, Tavi P, Jones PP,
            Lunde M, Wasserstrom JA, Laporte J, Ullrich ND, Christensen G, Morth
            JP and Louch WE.
  TITLE     BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in
            Cardiomyocytes
  JOURNAL   Circ Res 132 (11), e188-e205 (2023)
   PUBMED   37139790
  REMARK    GeneRIF: BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule
            Growth in Cardiomyocytes.
REFERENCE   2  (bases 1 to 3412)
  AUTHORS   Xu X, Guan R, Gong K, Xie H and Shi L.
  TITLE     Circ_FURIN knockdown assuages Testosterone-induced human ovarian
            granulosa-like tumor cell disorders by sponging miR-423-5p to reduce
            MTM1 expression in polycystic ovary syndrome
  JOURNAL   Reprod Biol Endocrinol 20 (1), 32 (2022)
   PUBMED   35177076
  REMARK    GeneRIF: Circ_FURIN knockdown assuages Testosterone-induced human
            ovarian granulosa-like tumor cell disorders by sponging miR-423-5p
            to reduce MTM1 expression in polycystic ovary syndrome. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 3412)
  AUTHORS   Kraatari M, Tuominen H, Tuupanen S, Haapaniemi T, Moilanen J and
            Rahikkala E.
  TITLE     X-linked myotubular myopathy mimics hereditary spastic paraplegia in
            two female manifesting carriers of pathogenic MTM1 variant
  JOURNAL   Eur J Med Genet 63 (11), 104040 (2020)
   PUBMED   32805447
  REMARK    GeneRIF: X-linked myotubular myopathy mimics hereditary spastic
            paraplegia in two female manifesting carriers of pathogenic MTM1
            variant.
REFERENCE   4  (bases 1 to 3412)
  AUTHORS   Cocanougher BT, Flynn L, Yun P, Jain M, Waite M, Vasavada R,
            Wittenbach JD, de Chastonay S, Chhibber S, Innes AM, MacLaren L,
            Mozaffar T, Arai AE, Donkervoort S, Bonnemann CG and Foley AR.
  TITLE     Adult MTM1-related myopathy carriers: Classification based on deep
            phenotyping
  JOURNAL   Neurology 93 (16), e1535-e1542 (2019)
   PUBMED   31541013
  REMARK    GeneRIF: MTM1 mutation is related to myopathy
REFERENCE   5  (bases 1 to 3412)
  AUTHORS   Nishikawa A, Iida A, Hayashi S, Okubo M, Oya Y, Yamanaka G,
            Takahashi I, Nonaka I, Noguchi S and Nishino I.
  TITLE     Three novel MTM1 pathogenic variants identified in Japanese patients
            with X-linked myotubular myopathy
  JOURNAL   Mol Genet Genomic Med 7 (5), e621 (2019)
   PUBMED   30884204
  REMARK    GeneRIF: Three novel mutations in the second cluster of PTP domain
            in MTM1 were identified in 3 patients with X-linked myotubular
            myopathy.
REFERENCE   6  (bases 1 to 3412)
  AUTHORS   Laporte J, Guiraud-Chaumeil C, Vincent MC, Mandel JL, Tanner SM,
            Liechti-Gallati S, Wallgren-Pettersson C, Dahl N, Kress W, Bolhuis
            PA, Fardeau M, Samson F and Bertini E.
  TITLE     Mutations in the MTM1 gene implicated in X-linked myotubular
            myopathy. ENMC International Consortium on Myotubular Myopathy.
            European Neuro-Muscular Center
  JOURNAL   Hum Mol Genet 6 (9), 1505-1511 (1997)
   PUBMED   9305655
REFERENCE   7  (bases 1 to 3412)
  AUTHORS   de Gouyon BM, Zhao W, Laporte J, Mandel JL, Metzenberg A and Herman
            GE.
  TITLE     Characterization of mutations in the myotubularin gene in twenty six
            patients with X-linked myotubular myopathy
  JOURNAL   Hum Mol Genet 6 (9), 1499-1504 (1997)
   PUBMED   9285787
REFERENCE   8  (bases 1 to 3412)
  AUTHORS   Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM,
            Poustka A and Dahl N.
  TITLE     A gene mutated in X-linked myotubular myopathy defines a new
            putative tyrosine phosphatase family conserved in yeast
  JOURNAL   Nat Genet 13 (2), 175-182 (1996)
   PUBMED   8640223
  REMARK    GeneRIF: Myotubularin loss-of-function mutations cause X-linked
            myotubular myopathy, a severe congenital myoopathy with predominance
            and hypotrophy of type I (slow) muscle fibers
REFERENCE   9  (bases 1 to 3412)
  AUTHORS   Dowling,J.J., Lawlor,M.W. and Das,S.
  TITLE     X-Linked Myotubular Myopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301605
REFERENCE   10  (bases 1 to 3412)
  AUTHORS   Liechti-Gallati S, Muller B, Grimm T, Kress W, Muller C, Boltshauser
            E, Moser H and Braga S.
  TITLE     X-linked centronuclear myopathy: mapping the gene to Xq28
  JOURNAL   Neuromuscul Disord 1 (4), 239-245 (1991)
   PUBMED   1822801
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U46024.1, BC030779.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370396.7/ ENSP00000359423.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC418907.1, U46024.1,
            BC030779.1 and BQ002481.1.
            On Nov 25, 2019 this sequence version replaced NM_000252.2.
            Summary: This gene encodes a dual-specificity phosphatase that acts
            on both phosphotyrosine and phosphoserine. It is required for
            muscle cell differentiation and mutations in this gene have been
            identified as being responsible for X-linked myotubular myopathy.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3412
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..3412
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /note="myotubularin 1"
                     /db_xref="GeneID:4534"
                     /db_xref="HGNC:HGNC:7448"
                     /db_xref="MIM:300415"
     CDS             53..1864
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /EC_number="3.1.3.64"
                     /EC_number="3.1.3.95"
                     /note="isoform 1 is encoded by transcript variant 5;
                     phosphatidylinositol-3-phosphate phosphatase;
                     phosphatidylinositol-3,5-bisphosphate 3-phosphatase"
                     /codon_start=1
                     /product="myotubularin isoform 1"
                     /protein_id="NP_000243.1"
                     /db_xref="CCDS:CCDS14694.1"
                     /db_xref="GeneID:4534"
                     /db_xref="HGNC:HGNC:7448"
                     /db_xref="MIM:300415"
                     /translation="MASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLIT
                     DKEVIYICPFNGPIKGRVYITNYRLYLRSLETDSSLILDVPLGVISRIEKMGGATSRGE
                     NSYGLDITCKDMRNLRFALKQEGHSRRDMFEILTRYAFPLAHSLPLFAFLNEEKFNVDG
                     WTVYNPVEEYRRQGLPNHHWRITFINKCYELCDTYPALLVVPYRASDDDLRRVATFRSR
                     NRIPVLSWIHPENKTVIVRCSQPLVGMSGKRNKDDEKYLDVIRETNKQISKLTIYDARP
                     SVNAVANKATGGGYESDDAYHNAELFFLDIHNIHVMRESLKKVKDIVYPNVEESHWLSS
                     LESTHWLEHIKLVLTGAIQVADKVSSGKSSVLVHCSDGWDRTAQLTSLAMLMLDSFYRS
                     IEGFEILVQKEWISFGHKFASRIGHGDKNHTDADRSPIFLQFIDCVWQMSKQFPTAFEF
                     NEQFLIIILDHLYSCRFGTFLFNCESARERQKVTERTVSLWSLINSNKEKFKNPFYTKE
                     INRVLYPVASMRHLELWVNYYIRWNPRIKQQQPNPVEQRYMELLALRDEYIKRLEELQL
                     ANSAKLSDPPTSPSSPSQMMPHVQTHF"
     misc_feature    53..127
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13496.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    89..91
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13496.2); phosphorylation site"
     misc_feature    104..106
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13496.2); phosphorylation site"
     misc_feature    1535..1537
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:16964243; propagated from
                     UniProtKB/Swiss-Prot (Q13496.2); phosphorylation site"
     misc_feature    1787..1861
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13496.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1814..1816
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q13496.2); phosphorylation site"
     regulatory      3388..3393
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /note="hexamer: AATAAA"
     polyA_site      3412
                     /gene="MTM1"
                     /gene_synonym="CNM; CNMX; MTMX; XLMTM"
                     /note="major polyA site"
ORIGIN
        1 agccgagcag cctggcaacg gcggtggcgc ccggagcccg agagtttcca ggatggcttc
       61 tgcatcaact tctaaatata attcacactc cttggagaat gagtctatta agaggacgtc
      121 tcgagatgga gtcaatcgag atctcactga ggctgttcct cgacttccag gagaaacact
      181 aatcactgac aaagaagtta tttacatatg tcctttcaat ggccccatta agggaagagt
      241 ttacatcaca aattatcgtc tttatttaag aagtttggaa acggattctt ctctaatact
      301 tgatgttcct ctgggtgtga tctcgagaat tgaaaaaatg ggaggcgcga caagtagagg
      361 agaaaattcc tatggtctag atattacttg taaagacatg agaaacctga ggttcgcttt
      421 gaaacaggaa ggccacagca gaagagatat gtttgagatc ctcacgagat acgcgtttcc
      481 cctggctcac agtctgccat tatttgcatt tttaaatgaa gaaaagttta acgtggatgg
      541 atggacagtt tacaatccag tggaagaata caggaggcag ggcttgccca atcaccattg
      601 gagaataact tttattaata agtgctatga gctctgtgac acttaccctg ctcttttggt
      661 ggttccgtat cgtgcctcag atgatgacct ccggagagtt gcaactttta ggtcccgaaa
      721 tcgaattcca gtgctgtcat ggattcatcc agaaaataag acggtcattg tgcgttgcag
      781 tcagcctctt gtcggtatga gtgggaaacg aaataaagat gatgagaaat atctcgatgt
      841 tatcagggag actaataaac aaatttctaa actcaccatt tatgatgcaa gacccagcgt
      901 aaatgcagtg gccaacaagg caacaggagg aggatatgaa agtgatgatg catatcataa
      961 cgccgaactt ttcttcttag acattcataa tattcatgtt atgcgggaat ctttaaaaaa
     1021 agtgaaggac attgtttatc ctaatgtaga agaatctcat tggttgtcca gtttggagtc
     1081 tactcattgg ttagaacata tcaagctcgt tttgacagga gccattcaag tagcagacaa
     1141 agtttcttca gggaagagtt cagtgcttgt gcattgcagt gacggatggg acaggactgc
     1201 tcagctgaca tccttggcca tgctgatgtt ggatagcttc tataggagca ttgaagggtt
     1261 cgaaatactg gtacaaaaag aatggataag ttttggacat aaatttgcat ctcgaatagg
     1321 tcatggtgat aaaaaccaca ccgatgctga ccgttctcct atttttctcc agtttattga
     1381 ttgtgtgtgg caaatgtcaa aacagttccc tacagctttt gaattcaatg aacaattttt
     1441 gattataatt ttggatcatc tgtatagttg ccgatttggt actttcttat tcaactgtga
     1501 atctgctcga gaaagacaga aggttacaga aaggactgtt tctttatggt cactgataaa
     1561 cagtaataaa gaaaaattca aaaacccctt ctatactaaa gaaatcaatc gagttttata
     1621 tccagttgcc agtatgcgtc acttggaact ctgggtgaat tactacatta gatggaaccc
     1681 caggatcaag caacaacagc cgaatccagt ggagcagcgt tacatggagc tcttagcctt
     1741 acgcgacgaa tacataaagc ggcttgagga actgcagctc gccaactctg ccaagctttc
     1801 tgatccccca acttcacctt ccagtccttc gcaaatgatg ccccatgtgc aaactcactt
     1861 ctgagggggg accctggcac cgcattagag ctcgaaataa aggcgatagc tgactttcat
     1921 ttggggcatt tgtaaaaagt agattaaaat atttgcctcc atgtagaact tgaactaaca
     1981 taatcttaaa ctcttgaata tgtgccttct agaatacata ttacaagaaa actacagggt
     2041 ccacacggca atcagaagaa aggagctgag atgaggtttt ggaaaaccct gacaccttta
     2101 aaaagcagtt tttgaaagac aaaatttaga tttaatttac gtcttgagaa atactatata
     2161 tacaatatat attttgtggg cttaattgaa acaacattat tttaaaatca aaggggatat
     2221 atgtttgtgg aatggatttt cctgaagctg cttaacagtt gctttggatt ctctaagatg
     2281 aatccaaatg tgaaagatgc atgttactgc caaaaccaaa ttgagctcag cttcctaggc
     2341 attacccaaa agcaaggtgt ttaagtaatt gccagctttt ataccatcat gagtggtgac
     2401 ttaaggagaa atagctgtat agatgagttt ttcattattt ggaaatttag gggtagaaaa
     2461 tgttttcccc taattttcca gagaagccta tttttatatt tttaaaaaac tgacagggcc
     2521 cagttaaata tgatttgcat tttttaaatt tgccagtttt attttctaaa ttctttcatg
     2581 agcttgccta aaattcggaa tggttttcgg gttgtggcaa accccaaaga gagcactgtc
     2641 caaggatgtc gggagcatcc tgctgcttag gggaatgttt tcgcaaatgt tgctctagtc
     2701 agtccagctc atctgccaaa atgtagggct accgtcttgg atgcatgagc tattgctaga
     2761 gcatcatcct tagaaatcag tgccccagat gtacatgtgt tgagcgtatt cttgaaagta
     2821 ttgtgtttat gcatttcaat ttcaatggtg ttggcttccc ctccccaccc cacgcgtgca
     2881 taaaaactgg ttctacaaat ttttacttga agtaccaggc cgtttgcttt ttcaggttgt
     2941 tttgttttat agtattaagt gaaattttaa atgcacagtt ctatttgcta tctgaactaa
     3001 ttcatttatt aagtatattt gtaaaagcta aggctcgagt taaaacaatg aagtgtttta
     3061 caatgatttg taaaggacta tttataacta atatggtttt gttttcaatg aattaagaaa
     3121 gattaaatat atctttgtaa attattttat gtcatagttt aattggtcta ccaagtaaga
     3181 catctcaaat acagtagtat aatgtatgaa ttttgtaagt ataagaaatt ttattagaca
     3241 ttctcttact ttttgtaaat gctgtaaata tttcataaat taacaaagtg tcactccata
     3301 aaaagaaagc taatactaat agcctaaaag attttgtgaa atttcatgaa aactttttaa
     3361 tggcaataat gactaaagac ctgctgtaat aaatgtatta actgaaacct aa
//
LOCUS       NM_000254              10547 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase
            (MTR), transcript variant 1, mRNA.
ACCESSION   NM_000254
VERSION     NM_000254.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10547)
  AUTHORS   Pawlik P, Kurzawinska G, Ozarowski M, Wolski H, Piatek K, Slopien R,
            Sajdak S, Olbromski P and Seremak-Mrozikiewicz A.
  TITLE     Common Variants in One-Carbon Metabolism Genes (MTHFR, MTR, MTHFD1)
            and Depression in Gynecologic Cancers
  JOURNAL   Int J Mol Sci 24 (16), 12574 (2023)
   PUBMED   37628752
  REMARK    GeneRIF: Common Variants in One-Carbon Metabolism Genes (MTHFR, MTR,
            MTHFD1) and Depression in Gynecologic Cancers. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 10547)
  AUTHORS   Antunes LAA, Fialho W, Fernandes TO, Duarte C, Tavares JDS, Kuchler
            EC and Antunes LS.
  TITLE     Association of MTR and MTRR genes and oral health-related quality of
            life in children with dental caries
  JOURNAL   Braz Oral Res 37, e076 (2023)
   PUBMED   37531512
  REMARK    GeneRIF: Association of MTR and MTRR genes and oral health-related
            quality of life in children with dental caries. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 10547)
  AUTHORS   Liu Y, Zhong T, Song X, Zhang S, Sun M, Wei J, Shu J, Yang T, Wang T
            and Qin J.
  TITLE     Association of MTR gene polymorphisms with the occurrence of
            non-syndromic congenital heart disease: a case-control study
  JOURNAL   Sci Rep 13 (1), 9424 (2023)
   PUBMED   37296303
  REMARK    GeneRIF: Association of MTR gene polymorphisms with the occurrence
            of non-syndromic congenital heart disease: a case-control study.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 10547)
  AUTHORS   Tariq T, Arshad A, Bibi A, Aslam S, Sohail A, Ishaq B and Irfan M.
  TITLE     Association of MTR A2756G and MTRR A66G Polymorphisms With Male
            Infertility: An Updated Meta-Analysis
  JOURNAL   Am J Mens Health 17 (3), 15579883231176657 (2023)
   PUBMED   37249073
  REMARK    GeneRIF: Association of MTR A2756G and MTRR A66G Polymorphisms With
            Male Infertility: An Updated Meta-Analysis.
REFERENCE   5  (bases 1 to 10547)
  AUTHORS   Col B, Oltean S and Banerjee R.
  TITLE     Translational regulation of human methionine synthase by upstream
            open reading frames
  JOURNAL   Biochim Biophys Acta 1769 (9-10), 532-540 (2007)
   PUBMED   17683808
REFERENCE   6  (bases 1 to 10547)
  AUTHORS   Sloan,J.L., Carrillo,N., Adams,D. and Venditti,C.P.
  TITLE     Disorders of Intracellular Cobalamin Metabolism
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301503
REFERENCE   7  (bases 1 to 10547)
  AUTHORS   Garovic-Kocic V and Rosenblatt DS.
  TITLE     Methionine auxotrophy in inborn errors of cobalamin metabolism
  JOURNAL   Clin Invest Med 15 (4), 395-400 (1992)
   PUBMED   1516297
REFERENCE   8  (bases 1 to 10547)
  AUTHORS   Everman BW and Koblin DD.
  TITLE     Aging, chronic administration of ethanol, and acute exposure to
            nitrous oxide: effects on vitamin B12 and folate status in rats
  JOURNAL   Mech Ageing Dev 62 (3), 229-243 (1992)
   PUBMED   1583909
REFERENCE   9  (bases 1 to 10547)
  AUTHORS   O'Connor DL, Moriarty P and Picciano MF.
  TITLE     The impact of iron deficiency on the flux of folates within the
            mammary gland
  JOURNAL   Int J Vitam Nutr Res 62 (2), 173-180 (1992)
   PUBMED   1517041
REFERENCE   10  (bases 1 to 10547)
  AUTHORS   Vassiliadis A, Rosenblatt DS, Cooper BA and Bergeron JJ.
  TITLE     Lysosomal cobalamin accumulation in fibroblasts from a patient with
            an inborn error of cobalamin metabolism (cblF complementation
            group): visualization by electron microscope radioautography
  JOURNAL   Exp Cell Res 195 (2), 295-302 (1991)
   PUBMED   2070814
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366577.10/ ENSP00000355536.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            regulatory uORF        :: PMID: 17683808
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359185.25 and AL359259.18.
            This sequence is a reference standard in the RefSeqGene project.
            On May 21, 2020 this sequence version replaced NM_000254.2.
            Summary: This gene encodes the
            5-methyltetrahydrofolate-homocysteine methyltransferase. This
            enzyme, also known as cobalamin-dependent methionine synthase,
            catalyzes the final step in methionine biosynthesis. Mutations in
            MTR have been identified as the underlying cause of methylcobalamin
            deficiency complementation group G. Alternatively spliced
            transcript variants encoding distinct isoforms have been found for
            this gene. [provided by RefSeq, May 2014].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..10547
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q43"
     gene            1..10547
                     /gene="MTR"
                     /gene_synonym="cblG; HMAG; MS"
                     /note="5-methyltetrahydrofolate-homocysteine
                     methyltransferase"
                     /db_xref="GeneID:4548"
                     /db_xref="HGNC:HGNC:7468"
                     /db_xref="MIM:156570"
     regulatory      30..455
                     /regulatory_class="uORF"
                     /gene="MTR"
                     /gene_synonym="cblG; HMAG; MS"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:17683808]"
                     /note="this uORF is predicted to encode a 141 aa peptide
                     (PMID:17683808)"
     regulatory      53..145
                     /regulatory_class="uORF"
                     /gene="MTR"
                     /gene_synonym="cblG; HMAG; MS"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:17683808]"
                     /note="this uORF is predicted to encode a 30 aa peptide
                     (PMID:17683808)"
     misc_feature    227..229
                     /gene="MTR"
                     /gene_synonym="cblG; HMAG; MS"
                     /note="upstream in-frame stop codon"
     CDS             413..4210
                     /gene="MTR"
                     /gene_synonym="cblG; HMAG; MS"
                     /EC_number="2.1.1.13"
                     /note="isoform 1 is encoded by transcript variant 1;
                     5-methyltetrahydrofolate-homocysteine methyltransferase 1;
                     vitamin-B12 dependent methionine synthase;
                     cobalamin-dependent methionine synthase"
                     /codon_start=1
                     /product="methionine synthase isoform 1"
                     /protein_id="NP_000245.2"
                     /db_xref="CCDS:CCDS1614.1"
                     /db_xref="GeneID:4548"
                     /db_xref="HGNC:HGNC:7468"
                     /db_xref="MIM:156570"
                     /translation="MSPALQDLSQPEGLKKTLRDEINAILQKRIMVLDGGMGTMIQREK
                     LNEEHFRGQEFKDHARPLKGNNDILSITQPDVIYQIHKEYLLAGADIIETNTFSSTSIA
                     QADYGLEHLAYRMNMCSAGVARKAAEEVTLQTGIKRFVAGALGPTNKTLSVSPSVERPD
                     YRNITFDELVEAYQEQAKGLLDGGVDILLIETIFDTANAKAALFALQNLFEEKYAPRPI
                     FISGTIVDKSGRTLSGQTGEGFVISVSHGEPLCIGLNCALGAAEMRPFIEIIGKCTTAY
                     VLCYPNAGLPNTFGDYDETPSMMAKHLKDFAMDGLVNIVGGCCGSTPDHIREIAEAVKN
                     CKPRVPPATAFEGHMLLSGLEPFRIGPYTNFVNIGERCNVAGSRKFAKLIMAGNYEEAL
                     CVAKVQVEMGAQVLDVNMDDGMLDGPSAMTRFCNLIASEPDIAKVPLCIDSSNFAVIEA
                     GLKCCQGKCIVNSISLKEGEDDFLEKARKIKKYGAAMVVMAFDEEGQATETDTKIRVCT
                     RAYHLLVKKLGFNPNDIIFDPNILTIGTGMEEHNLYAINFIHATKVIKETLPGARISGG
                     LSNLSFSFRGMEAIREAMHGVFLYHAIKSGMDMGIVNAGNLPVYDDIHKELLQLCEDLI
                     WNKDPEATEKLLRYAQTQGTGGKKVIQTDEWRNGPVEERLEYALVKGIEKHIIEDTEEA
                     RLNQKKYPRPLNIIEGPLMNGMKIVGDLFGAGKMFLPQVIKSARVMKKAVGHLIPFMEK
                     EREETRVLNGTVEEEDPYQGTIVLATVKGDVHDIGKNIVGVVLGCNNFRVIDLGVMTPC
                     DKILKAALDHKADIIGLSGLITPSLDEMIFVAKEMERLAIRIPLLIGGATTSKTHTAVK
                     IAPRYSAPVIHVLDASKSVVVCSQLLDENLKDEYFEEIMEEYEDIRQDHYESLKERRYL
                     PLSQARKSGFQMDWLSEPHPVKPTFIGTQVFEDYDLQKLVDYIDWKPFFDVWQLRGKYP
                     NRGFPKIFNDKTVGGEARKVYDDAHNMLNTLISQKKLRARGVVGFWPAQSIQDDIHLYA
                     EAAVPQAAEPIATFYGLRQQAEKDSASTEPYYCLSDFIAPLHSGIRDYLGLFAVACFGV
                     EELSKAYEDDGDDYSSIMVKALGDRLAEAFAEELHERVRRELWAYCGSEQLDVADLRRL
                     RYKGIRPAPGYPSQPDHTEKLTMWRLADIEQSTGIRLTESLAMAPASAVSGLYFSNLKS
                     KYFAVGKISKDQVEDYALRKNISVAEVEKWLGPILGYDTD"
     misc_feature    4202..4204
                     /gene="MTR"
                     /gene_synonym="cblG; HMAG; MS"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z2Q4; propagated from
                     UniProtKB/Swiss-Prot (Q99707.2); phosphorylation site"
     regulatory      7207..7212
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTR"
                     /gene_synonym="cblG; HMAG; MS"
                     /note="hexamer: AATAAA"
     polyA_site      7237
                     /gene="MTR"
                     /gene_synonym="cblG; HMAG; MS"
                     /note="major polyA site"
     regulatory      10480..10485
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTR"
                     /gene_synonym="cblG; HMAG; MS"
                     /note="hexamer: AATAAA"
     polyA_site      10499
                     /gene="MTR"
                     /gene_synonym="cblG; HMAG; MS"
     regulatory      10527..10532
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTR"
                     /gene_synonym="cblG; HMAG; MS"
                     /note="hexamer: ATTAAA"
     polyA_site      10547
                     /gene="MTR"
                     /gene_synonym="cblG; HMAG; MS"
ORIGIN
        1 agaactaacc gcgctctgaa aggttctaaa tgtctgcggg gctcagagcc ggatgtcacg
       61 tcgtcctcct ctgccggttt tctcttgggt ccttttccgt gccgtcccgc gactccgcct
      121 ctggccgcgc gtgtctggct gctaggccga caccaaggac tggccgggta cccgggaaga
      181 aagcacgtgc tccagcagtt gccgcgccca gccccgagag aggccctagg gcgctgcggg
      241 ctttcggggt ccgcagtccc cccgcgacgc gagccaacgg gaggcgtcaa aagacccggg
      301 ccttgtgtgg caggctcgcc tggcgctggc tggcgtggcc cttggccgtc gtcacctgtg
      361 gagagcacgt cttctctgcc gcgccctctg cgcaaggagg agactcgaca acatgtcacc
      421 cgcgctccaa gacctgtcgc aacccgaagg tctgaagaaa accctgcggg atgagatcaa
      481 tgccattctg cagaagagga ttatggtgct ggatggaggg atggggacca tgatccagcg
      541 ggagaagcta aacgaagaac acttccgagg tcaggaattt aaagatcatg ccaggccgct
      601 gaaaggcaac aatgacattt taagtataac tcagcctgat gtcatttacc aaatccataa
      661 ggaatacttg ctggctgggg cagatatcat tgaaacaaat acttttagca gcactagtat
      721 tgcccaagct gactatggcc ttgaacactt ggcctaccgg atgaacatgt gctctgcagg
      781 agtggccaga aaagctgccg aggaggtaac tctccagaca ggaattaaga ggtttgtggc
      841 aggggctctg ggtccgacta ataagacact ctctgtgtcc ccatctgtgg aaaggccgga
      901 ttataggaac atcacatttg atgagcttgt tgaagcatac caagagcagg ccaaaggact
      961 tctggatggc ggggttgata tcttactcat tgaaactatt tttgatactg ccaatgccaa
     1021 ggcagccttg tttgcactcc aaaatctttt tgaggagaaa tatgctcccc ggcctatctt
     1081 tatttcaggg acgatcgttg ataaaagtgg gcggactctt tccggacaga caggagaggg
     1141 atttgtcatc agcgtgtctc atggagaacc actctgcatt ggattaaatt gtgctttggg
     1201 tgcagctgaa atgagacctt ttattgaaat aattggaaaa tgtacaacag cctatgtcct
     1261 ctgttatccc aatgcaggtc ttcccaacac ctttggtgac tatgatgaaa cgccttctat
     1321 gatggccaag cacctaaagg attttgctat ggatggcttg gtcaatatag ttggaggatg
     1381 ctgtgggtca acaccagatc atatcaggga aattgctgaa gctgtgaaaa attgtaagcc
     1441 tagagttcca cctgccactg cttttgaagg acatatgtta ctgtctggtc tagagccctt
     1501 caggattgga ccgtacacca actttgttaa cattggagag cgctgtaatg ttgcaggatc
     1561 aaggaagttt gctaaactca tcatggcagg aaactatgaa gaagccttgt gtgttgccaa
     1621 agtgcaggtg gaaatgggag cccaggtgtt ggatgtcaac atggatgatg gcatgctaga
     1681 tggtccaagt gcaatgacca gattttgcaa cttaattgct tccgagccag acatcgcaaa
     1741 ggtacctttg tgcatcgact cctccaattt tgctgtgatt gaagctgggt taaagtgctg
     1801 ccaagggaag tgcattgtca atagcattag tctgaaggaa ggagaggacg acttcttgga
     1861 gaaggccagg aagattaaaa agtatggagc tgctatggtg gtcatggctt ttgatgaaga
     1921 aggacaggca acagaaacag acacaaaaat cagagtgtgc acccgggcct accatctgct
     1981 tgtgaaaaaa ctgggcttta atccaaatga cattattttt gaccctaata tcctaaccat
     2041 tgggactgga atggaggaac acaacttgta tgccattaat tttatccatg caacaaaagt
     2101 cattaaagaa acattacctg gagccagaat aagtggaggt ctttccaact tgtccttctc
     2161 cttccgagga atggaagcca ttcgagaagc aatgcatggg gttttccttt accatgcaat
     2221 caagtctggc atggacatgg ggatagtgaa tgctggaaac ctccctgtgt atgatgatat
     2281 ccataaggaa cttctgcagc tctgtgaaga tctcatctgg aataaagacc ctgaggccac
     2341 tgagaagctc ttacgttatg cccagactca aggcacagga gggaagaaag tcattcagac
     2401 tgatgagtgg agaaatggcc ctgtcgaaga acgccttgag tatgcccttg tgaagggcat
     2461 tgaaaaacat attattgagg atactgagga agccaggtta aaccaaaaaa aatatccccg
     2521 acctctcaat ataattgaag gacccctgat gaatggaatg aaaattgttg gtgatctttt
     2581 tggagctgga aaaatgtttc tacctcaggt tataaagtca gcccgggtta tgaagaaggc
     2641 tgttggccac cttatccctt tcatggaaaa agaaagagaa gaaaccagag tgcttaacgg
     2701 cacagtagaa gaagaggacc cttaccaggg caccatcgtg ctggccactg ttaaaggcga
     2761 cgtgcacgac ataggcaaga acatagttgg agtagtcctt ggctgcaata atttccgagt
     2821 tattgattta ggagtcatga ctccatgtga taagatactg aaagctgctc ttgaccacaa
     2881 agcagatata attggcctgt caggactcat cactccttcc ctggatgaaa tgatttttgt
     2941 tgccaaggaa atggagagat tagctataag gattccattg ttgattggag gagcaaccac
     3001 ttcaaaaacc cacacagcag ttaaaatagc tccgagatac agtgcacctg taatccatgt
     3061 cctggacgcg tccaagagtg tggtggtgtg ttcccagctg ttagatgaaa atctaaagga
     3121 tgaatacttt gaggaaatca tggaagaata tgaagatatt agacaggacc attatgagtc
     3181 tctcaaggag aggagatact tacccttaag tcaagccaga aaaagtggtt tccaaatgga
     3241 ttggctgtct gaacctcacc cagtgaagcc cacgtttatt gggacccagg tctttgaaga
     3301 ctatgacctg cagaagctgg tggactacat tgactggaag cctttctttg atgtctggca
     3361 gctccggggc aagtacccga atcgaggctt tcccaagata tttaacgaca aaacagtagg
     3421 tggagaggcc aggaaggtct acgatgatgc ccacaatatg ctgaacacac tgattagtca
     3481 aaagaaactc cgggcccggg gtgtggttgg gttctggcca gcacagagta tccaagacga
     3541 cattcacctg tacgcagagg ctgctgtgcc ccaggctgca gagcccatag ccaccttcta
     3601 tgggttaagg caacaggctg agaaggactc tgccagcacg gagccatact actgcctctc
     3661 agacttcatc gctcccttgc attctggcat ccgtgactac ctgggcctgt ttgccgttgc
     3721 ctgctttggg gtagaagagc tgagcaaggc ctatgaggat gatggtgacg actacagcag
     3781 catcatggtc aaggcgctgg gggaccggct ggcagaggcc tttgcagaag agctccatga
     3841 aagagttcgc cgagaactgt gggcctactg tggcagtgag cagctggacg tcgcagacct
     3901 gcgcaggctg cggtacaagg gcatccgccc ggctcctggc taccccagcc agcccgacca
     3961 caccgagaag ctcaccatgt ggagactcgc agacatcgag cagtctacag gcattaggtt
     4021 aacagaatca ttagcaatgg cacctgcttc agcagtctca ggcctctact tctccaattt
     4081 gaagtccaaa tattttgctg tggggaagat ttccaaggat caggttgagg attatgcatt
     4141 gaggaagaac atatctgtgg ctgaggttga gaaatggctt ggacccattt tgggatatga
     4201 tacagactaa cttttttttt ttttttgcct tttttattct tgatgatcct caaggaaata
     4261 caacctaggg tgccttaaaa ataacaacaa caaaaaacct gtgtgcatct ggctgacact
     4321 tacctgcttc tggttttcga agactattta gtggaacctt gtagaggagc agggtcttcc
     4381 tgcagtgcct ggaaaacagg cgctgttttt ttgggacctt gcgtgaagag cagtgagcag
     4441 ggttcctgtg gtttccctgg tccctctgag atggggacag actgaagaca gaggtcgttt
     4501 gatttcaaag caagtcaacc tgcttttttc tgtttttaca gtggaatcta ggaggccact
     4561 tagtcgtctt tttttcctct tagaagaaaa gcctgaaact gagttgaata gagaagtgtg
     4621 accctgtgac aaaatgatac tgtgagaaat ggggcatttt aatctaagtg gttataacag
     4681 tggattctga cggggaaggt gtagctctgt tctcttcgga agacctcgtt ttctaaaggc
     4741 tggactaaat ggctgcagaa ctccctttgg caaaaggcat gcgctcactg cttgcttgtc
     4801 agaaacactg aagccatttg ccccagtgtg gtcaagcagc catgctttct gggcattttc
     4861 gtcctcccat aatttcatat ttccgtaccc ctgaggaaac aaaaaggaaa tgaggagaga
     4921 aagttactgt taagggtggt taacattttt tttgttttgt tttgttttgg tttttttttt
     4981 tttgagacag agtctggctc tgtcgcccag gctggagtgc aggggcgcaa tctcggctca
     5041 tagcaagctc cgcctcctgg gttcatgcca ttctcctgcc tcagcctcca gagtagctgg
     5101 gactacaggt gcccgccacc acacccggct aattttttgt gtttttacaa aatacaaaaa
     5161 agtagagaca ggatttcact gtgttagcca ggatggtctt gatctcccga cctcgtgatc
     5221 tgcccacctc agcctcccaa aatgctggga ttacaggcgt gagccaccga gcctggccgg
     5281 ttaacatctt ttaattgttt ccaggattga gcaggttctc agctgggctc tgatatcccg
     5341 tgcggagttg gacaagtggg cagcataaag tcactcattt cttaccattt tattcccctc
     5401 aattctcaat atattcagta atgaagaatg gtgccaccac tcaagcaaca agcctcaaac
     5461 tcaaccatgt catctttttc ttggatgatt gcagttattt caaaaatttg catgcaaaat
     5521 atacactcat cctacttcaa gatggtggtg gcaatagtca ggagaaggta acattggagt
     5581 cctggtttga ttcgaaggat gaagacgaag aagcaaggga ggaacaaatg aagaaccatc
     5641 tttgttcatg aataggaata ttcaagatta taaaggtatc aggtctccta aaattgatct
     5701 atggatttaa taccattttc aatggaaatt ccaacagatt ttattgaatg aaacaagcag
     5761 gtgtttatat ggagtagcaa aggacttaaa attaccaaat gcttctaaat atgaaggaga
     5821 ggttggggac acgcacccta tgtgatacca agttttattg tcaagacagt gtcatggtgc
     5881 agaggtaggc attctgagca ggggaacaaa ataagggcct agaaactcac ccgtgcatat
     5941 gttgaccttt gcaaaatgac ctggtgacat ggcaagtcag tggggacagg aaggaccact
     6001 ccctaagtaa tcccagaaca atggctattc atgtgggaaa aaaagaaatt ttactttctc
     6061 tcaccttacc tggtgataag ttccaaatat gttaagggct ttaatacaaa aagcaaaaat
     6121 tgtcagtgtt tggatgaaaa aagccttagg gcaggaaaga atctcttgag acataaagta
     6181 gtaatcataa aggacaagat ggttaagtca attctgttaa aactcaaggc ttatattaag
     6241 caaacacttg aagtgagaag atgatccaca acttgagaag acatttataa tacaaataac
     6301 tgatgaagga ttcataatca caaatataga gaattcctat ttaaaaaaat agaaaaatag
     6361 tgaagactac acaagaggaa atagggcttt taaataaata gatgttctgt agcattggtc
     6421 agggaaatat gaattaggac cacaatgaga ttccatttta tatccataag atttgcaaag
     6481 gttgggtctg acagtaccag ttgttagatc tgtagggact tgtacaacat tgtggatgtg
     6541 taaacaggca ccactgcttt aaaaaacaat tatcccttac agacttgaac atttgcagac
     6601 gttatgatct tgcttccaac tcccacctgt atgtccagca aactcttgca tgtggccact
     6661 aggaggaatg tgtaagaatg ttcatagtta catatttata atagttaata actggaaaaa
     6721 gtgaaatgta tgtctgtcta caggaaaata ggtgaataat tagatatata tattcattct
     6781 acgggatatt attcagtagt ggaaatgagt gaactacagc tatacctcac aataagaatg
     6841 aatctcagaa aatattaagg aaaaaagcaa gtttgaagag accacatggg gcgtactatt
     6901 tttattgagc ccaaaaacaa gcaaaaccaa agaatatgta gtctaagcat acgtatacaa
     6961 taaaactatg ctattaaaaa aaaagaaggt aactgataaa ccaaaattga gcatagtaat
     7021 tacccacaga aggaggaagt ggaagggaca ggagcacata ggtagatgcc aagttatgca
     7081 gctgttctgg ttcctcctgg taggcttaca agtgtttact atatgctatt aatacattat
     7141 actttataac taatagataa cagtttttta catattaaat atgttctact taaatatatt
     7201 ataaaaaata aaggcaaagt ggaatgataa cctaaaatct ggtatggtga ttttgtaggt
     7261 aatgtttgta tatgtcaaat acagttttta aggaaaggaa gaacatctta gggtaaacag
     7321 cagctagaaa ggtgaggggc aggagagtgg tgcatccttg ctgctgccag cagtgcccag
     7381 ataccaggct ttggggaatg agtggatggc tggaccattt gctaagacag aggccagggg
     7441 atgggagaaa tgatgagttt tggaaagatt cgatgtgact agactgaata taggcagttg
     7501 gatactagac tttggaattt aaaaagaatg tctggagtta gaattgagag acttgaacgt
     7561 ggagatggag gtcaggctgc agtgcgatgg gatcatctat ggagcatatg aggagaagag
     7621 aatctggagg aggaggaggg ggagccagca ggggagcagc tgtgggttgg aggaagccag
     7681 gagggagagt gcaatgccga gaaagcaatg aagagcgttt cgaagcatgc cagcagaacc
     7741 caatgctgca aagaggcctg ggaatgggat tgctgagggc ccttctcaca gtgagcccct
     7801 caagagcagc gtcaggggat tgtggggact gttggcacac agctggcttt gctaggttga
     7861 agacaatggg aggtgtggaa gacttgttga ctcatttaaa gaagattgga gggaaaggta
     7921 ggattgagag tgtttcagac agaaaaagga ttatatgctg agggtaaagc acaagtacag
     7981 agggttgcag atagtgcaga agtctttaaa aacaattatt ttaacccaac ttccagggag
     8041 actgaatttc ttctgccagt cagtaacacc atcaacctgg gagttgcccc tgacccctcc
     8101 agtcttagct cctgctcctg taacaaaata ccacaaactg gttagcttat agagaacaga
     8161 tgtttatttc ttacagttca ggagtctgga agtccaagat catggtgcca tcatggccga
     8221 gttctggtga gggccctctt ctgggatgca gcggccagct tctcatgttc tcacagtggg
     8281 tggagggtaa gcttgctctc tggcctcctc ttaaaaaggc actaatccca ttcatgaggg
     8341 ctccaccttc atgacctaat tacctcccaa agatgccatc tccaaacacc atcattctgg
     8401 ggattccatt tcaacatgat ttgggggata catcagacca taacactttt ctttttctca
     8461 accttcacat ccagttggtt ctcaagccct ggcgatttta cgcgctagat aggtcttaag
     8521 ttcatctcta cgcctgccct ggttaaggtt ctcatcattt ctcctctgga ttcatctgca
     8581 acacaggctg ccgggttggt tcccacctcc tagagctgga agagtgggct ctctgattct
     8641 ttacaccccc gcctcaatcc tcctgctgcc tgaataacca tctccccgtg acctaggata
     8701 tatcccagcc ccttagaggc atgcaaagcc ttccatgtct gaccctgcct catgtcttgg
     8761 aagccctaga ctgctgctgt accctgaagg aggtacctgc tcacattggc ccctctgtct
     8821 ggaataaccc caccccggtt ccacccaagt caggaaagct tcccaacccc tccctcccac
     8881 caccccaaag ctaagtgaag tgacccctct tcttgcctct gtaacaccgc catgcacatt
     8941 tcatacagcc cttgctgaaa cttcatctag ttctctgtta gacttaacat tccctaaggg
     9001 caggtttgga accttactca tctttatatg gcgtctaaaa tagtgcttgc tttatgatag
     9061 gtgctcagta aaggttgtct tgaattgagc agatcctcta gggacaggag ttggatggag
     9121 agcagactgt aaagcctcat gagggcaggg gccctgcctc ttcctgagct caggataccc
     9181 agagcctagc tcagtgcctg ccatgaaatt gttcactcca tcaagccttg ttaaatgagt
     9241 tcggggcggg gggagcatga tggttttctc tctctcagaa agaaagcgct gtatcaaagc
     9301 cctagcaccc tctctacacc caccttcagt atttcatatt agatgcggcc caagtgatac
     9361 tttctttacc gtcccgtgaa gacagcatat tggcagccct gcaaaaacaa aacaaaacaa
     9421 aaccctcagt tcatggcata cttgctataa atcagctatg tgtattgtca aattgtagaa
     9481 ctgaaagtat attctgattc ggtgtgtgta taaggaaata tacaccagta tatgcattaa
     9541 aacgtcaaga agagctgggc acagtgtcac atgcctgtaa acccagctat tcaggaggct
     9601 gaggtgggag gatcggttga ggccaggagt ttgaggctgc agtgagctat gattgcacag
     9661 ctgcactcca gcctgtgctg agacctcatc tcttaaaaaa taaaaaataa aaagtctaag
     9721 aggatacaca gaaattttta agtggttacc tccacggaat gggattaggg gatcagaggt
     9781 gagggaactc atggtttggc tatttctcgt tctttctgca ctgtttcaaa tttttacaag
     9841 tgtatgttat tgtactttta aaaagattag cttggcaaca agtctagcct gaaatgggtg
     9901 ctattttgac tagtctgagt gaaaagtgag gatttaaatg aagtaacccc taaactcagc
     9961 cagtcccatg tttttttaac acttggaata tctaattcca tttacactgc attcttcaaa
    10021 tgtaattttc aaagatgcct tttgcctcat cccttgcttt taagtattat tatagacttt
    10081 tggagactca cgaaacaagc aatccctaaa ttctcgccca ggaaagtatc ttggattaaa
    10141 tggtttttga gaaccttgag agtgtatatt ctatgaaatg gaagaaacaa gaactagaca
    10201 gagtcacaaa tgctgttgat cacagacaat ctctgccatc cataaggtaa atgtaataca
    10261 tctggcgacc tgctgagtgt gaacttgcag caggtgagga aggaactctg aactctcaca
    10321 atcttgtttc ttcatttccc agagagaaac tcggcaaaga gaaaaaggac atttccctcc
    10381 aggttatctg aaagaatttc aatgcttacc tttaatcatg tgacattgtt tatcttggat
    10441 taaaagaaaa gaaaatgtat ttattttgtg catattttca ataaaatata taaaatcgag
    10501 ttggtatata gtgccaaata ccattaatta aaaatatttt aacctga
//
LOCUS       NM_000255               3811 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens methylmalonyl-CoA mutase (MMUT), mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_000255
VERSION     NM_000255.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3811)
  AUTHORS   Yu Y, Shuai R, Liang L, Qiu W, Shen L, Wu S, Wei H, Chen Y, Yang C,
            Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Ye J, Zhang H, Lu D, Gong
            Z, Zhan X, Ji W, Gu X and Han L.
  TITLE     Different mutations in the MMUT gene are associated with the effect
            of vitamin B12 in a cohort of 266 Chinese patients with mut-type
            methylmalonic acidemia: A retrospective study
  JOURNAL   Mol Genet Genomic Med 9 (11), e1822 (2021)
   PUBMED   34668645
  REMARK    GeneRIF: Different mutations in the MMUT gene are associated with
            the effect of vitamin B12 in a cohort of 266 Chinese patients with
            mut-type methylmalonic acidemia: A retrospective study.
REFERENCE   2  (bases 1 to 3811)
  AUTHORS   Armstrong AJ, Collado MS, Henke BR, Olson MW, Hoang SA, Hamilton CA,
            Pourtaheri TD, Chapman KA, Summar MM, Johns BA, Wamhoff BR, Reardon
            JE and Figler RA.
  TITLE     A novel small molecule approach for the treatment of propionic and
            methylmalonic acidemias
  JOURNAL   Mol Genet Metab 133 (1), 71-82 (2021)
   PUBMED   33741272
  REMARK    GeneRIF: A novel small molecule approach for the treatment of
            propionic and methylmalonic acidemias.
REFERENCE   3  (bases 1 to 3811)
  AUTHORS   Liang L, Shuai R, Yu Y, Qiu W, Shen L, Wu S, Wei H, Chen Y, Yang C,
            Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Ye J, Zhang H, Lu D, Gong
            Z, Zhan X, Ji W, Yu Y, Gu X and Han L.
  TITLE     A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated
            with mild clinical and biochemical phenotypes of methylmalonic
            acidemia in 30 Chinese patients
  JOURNAL   Orphanet J Rare Dis 16 (1), 22 (2021)
   PUBMED   33413471
  REMARK    GeneRIF: A rare mutation c.1663G > A (p.A555T) in the MMUT gene
            associated with mild clinical and biochemical phenotypes of
            methylmalonic acidemia in 30 Chinese patients. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3811)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 3811)
  AUTHORS   Manoli,I., Sloan,J.L. and Venditti,C.P.
  TITLE     Isolated Methylmalonic Acidemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301409
REFERENCE   6  (bases 1 to 3811)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 3811)
  AUTHORS   Crane AM, Martin LS, Valle D and Ledley FD.
  TITLE     Phenotype of disease in three patients with identical mutations in
            methylmalonyl CoA mutase
  JOURNAL   Hum Genet 89 (3), 259-264 (1992)
   PUBMED   1351030
REFERENCE   8  (bases 1 to 3811)
  AUTHORS   Crane AM, Jansen R, Andrews ER and Ledley FD.
  TITLE     Cloning and expression of a mutant methylmalonyl coenzyme A mutase
            with altered cobalamin affinity that causes mut- methylmalonic
            aciduria
  JOURNAL   J Clin Invest 89 (2), 385-391 (1992)
   PUBMED   1346616
REFERENCE   9  (bases 1 to 3811)
  AUTHORS   Raff ML, Crane AM, Jansen R, Ledley FD and Rosenblatt DS.
  TITLE     Genetic characterization of a MUT locus mutation discriminating
            heterogeneity in mut0 and mut- methylmalonic aciduria by
            interallelic complementation
  JOURNAL   J Clin Invest 87 (1), 203-207 (1991)
   PUBMED   1670635
REFERENCE   10  (bases 1 to 3811)
  AUTHORS   Frenkel,E.P. and Kitchens,R.L.
  TITLE     Intracellular localization of hepatic propionyl-CoA carboxylase and
            methylmalonyl-CoA mutase in humans and normal and vitamin B12
            deficient rats
  JOURNAL   Br J Haematol 31 (4), 501-513 (1975)
   PUBMED   24458
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: MF170186.1, MF170185.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000274813.4/ ENSP00000274813.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292568.1, AK312611.1 and
            AL590668.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000255.3.
            Summary: This gene encodes the mitochondrial enzyme methylmalonyl
            Coenzyme A mutase. In humans, the product of this gene is a vitamin
            B12-dependent enzyme which catalyzes the isomerization of
            methylmalonyl-CoA to succinyl-CoA, while in other species this
            enzyme may have different functions. Mutations in this gene may
            lead to various types of methylmalonic aciduria. [provided by
            RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3811
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.3"
     gene            1..3811
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="methylmalonyl-CoA mutase"
                     /db_xref="GeneID:4594"
                     /db_xref="HGNC:HGNC:7526"
                     /db_xref="MIM:609058"
     misc_feature    14..16
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="upstream in-frame stop codon"
     CDS             191..2443
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /EC_number="5.4.99.2"
                     /note="methylmalonyl Coenzyme A mutase; mutant
                     methylmalonyl CoA mutase; methylmalonyl-CoA mutase,
                     mitochondrial; methylmalonyl-CoA isomerase;
                     methylmalonyl-CoA mutase variant c.613_615delGAA;
                     methylmalonyl-CoA mutase c.*192delA; methylmalonyl-CoA
                     mutase variant c.322C>T; methylmalonyl-CoA mutase variant
                     c.636G>A; methylmalonyl-CoA mutase variant c.643G>A;
                     methylmalonyl-CoA mutase variant c.1495G>A;
                     methylmalonyl-CoA mutase variant c.2011A>G;
                     methylmalonyl-CoA mutase variant c.2150G>T;
                     methylmalonyl-CoA mutase c.*51C>G"
                     /codon_start=1
                     /product="methylmalonyl-CoA mutase, mitochondrial
                     precursor"
                     /protein_id="NP_000246.2"
                     /db_xref="CCDS:CCDS4924.1"
                     /db_xref="GeneID:4594"
                     /db_xref="HGNC:HGNC:7526"
                     /db_xref="MIM:609058"
                     /translation="MLRAKNQLFLLSPHYLRQVKESSGSRLIQQRLLHQQQPLHPEWAA
                     LAKKQLKGKNPEDLIWHTPEGISIKPLYSKRDTMDLPEELPGVKPFTRGPYPTMYTFRP
                     WTIRQYAGFSTVEESNKFYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMAGVA
                     IDTVEDTKILFDGIPLEKMSVSMTMNGAVIPVLANFIVTGEEQGVPKEKLTGTIQNDIL
                     KEFMVRNTYIFPPEPSMKIIADIFEYTAKHMPKFNSISISGYHMQEAGADAILELAYTL
                     ADGLEYSRTGLQAGLTIDEFAPRLSFFWGIGMNFYMEIAKMRAGRRLWAHLIEKMFQPK
                     NSKSLLLRAHCQTSGWSLTEQDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEALGLPTV
                     KSARIARNTQIIIQEESGIPKVADPWGGSYMMECLTNDVYDAALKLINEIEEMGGMAKA
                     VAEGIPKLRIEECAARRQARIDSGSEVIVGVNKYQLEKEDAVEVLAIDNTSVRNRQIEK
                     LKKIKSSRDQALAERCLAALTECAASGDGNILALAVDASRARCTVGEITDALKKVFGEH
                     KANDRMVSGAYRQEFGESKEITSAIKRVHKFMEREGRRPRLLVAKMGQDGHDRGAKVIA
                     TGFADLGFDVDIGPLFQTPREVAQQAVDADVHAVGISTLAAGHKTLVPELIKELNSLGR
                     PDILVMCGGVIPPQDYEFLFEVGVSNVFGPGTRIPKAAVQVLDDIEKCLEKKQQSV"
     transit_peptide 191..286
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
     mat_peptide     287..2440
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /product="methylmalonyl-CoA mutase, mitochondrial"
     misc_feature    455..457
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P16332; propagated from
                     UniProtKB/Swiss-Prot (P22033.4); acetylation site"
     misc_feature    824..826
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P16332; propagated from
                     UniProtKB/Swiss-Prot (P22033.4); acetylation site"
     misc_feature    1193..1195
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P16332; propagated from
                     UniProtKB/Swiss-Prot (P22033.4); acetylation site"
     misc_feature    1631..1633
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P22033.4); phosphorylation site"
     misc_feature    1994..1996
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P16332; propagated from
                     UniProtKB/Swiss-Prot (P22033.4); acetylation site"
     regulatory      2778..2783
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="hexamer: ATTAAA"
     polyA_site      2798
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="major polyA site"
     regulatory      2852..2857
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="hexamer: AATAAA"
     regulatory      2869..2874
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="hexamer: AATAAA"
     polyA_site      2876
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="major polyA site"
     polyA_site      2890
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="major polyA site"
     regulatory      3405..3410
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="hexamer: AATAAA"
     polyA_site      3428
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
     regulatory      3787..3792
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="hexamer: AATAAA"
     polyA_site      3811
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="major polyA site"
ORIGIN
        1 agagtcgtcc ggctgacgct ggcggtggcg cggtttgtgt gggcttggtg agggcgggga
       61 ggcctggctg tgtggatgtc tgacaggtga ggcgggggac gcagaagtgc agccgccctc
      121 tcccacagcg gagtccaaaa caggcctacc agtcagttct tatttctatt gggtgtttcc
      181 atgctccacc atgttaagag ctaagaatca gcttttttta ctttcacctc attacctgag
      241 gcaggtaaaa gaatcatcag gctccaggct catacagcaa cgacttctac accagcaaca
      301 gccccttcac ccagaatggg ctgccctggc taaaaagcag ctgaaaggca aaaacccaga
      361 agacctaata tggcacaccc cggaagggat ctctataaaa cccttgtatt ccaagagaga
      421 tactatggac ttacctgaag aacttccagg agtgaagcca ttcacacgtg gaccatatcc
      481 taccatgtat acctttaggc cctggaccat ccgccagtat gctggtttta gtactgtgga
      541 agaaagcaat aagttctata aggacaacat taaggctggt cagcagggat tatcagttgc
      601 ctttgatctg gcgacacatc gtggctatga ttcagacaac cctcgagttc gtggtgatgt
      661 tggaatggct ggagttgcta ttgacactgt ggaagatacc aaaattcttt ttgatggaat
      721 tcctttagaa aaaatgtcag tttccatgac tatgaatgga gcagttattc cagttcttgc
      781 aaattttata gtaactggag aagaacaagg tgtacctaaa gagaagctta ctggtaccat
      841 ccaaaatgat atactaaagg aatttatggt tcgaaataca tacatttttc ctccagaacc
      901 atccatgaaa attattgctg acatatttga atatacagca aagcacatgc caaaatttaa
      961 ttcaatttca attagtggat accatatgca ggaagcaggg gctgatgcca ttctggagct
     1021 ggcctatact ttagcagatg gattggagta ctctagaact ggactccagg ctggcctgac
     1081 aattgatgaa tttgcaccaa ggttgtcttt cttctgggga attggaatga atttctatat
     1141 ggaaatagca aagatgagag ctggtagaag actctgggct cacttaatag agaaaatgtt
     1201 tcagcctaaa aactcaaaat ctcttcttct aagagcacac tgtcagacat ctggatggtc
     1261 acttactgag caggatccct acaataatat tgtccgtact gcaatagaag caatggcagc
     1321 agtatttgga gggactcagt ctttgcacac aaattctttt gatgaagctt tgggtttgcc
     1381 aactgtgaaa agtgctcgaa ttgccaggaa cacacaaatc atcattcaag aagaatctgg
     1441 gattcccaaa gtggctgatc cttggggagg ttcttacatg atggaatgtc tcacaaatga
     1501 tgtttatgat gctgctttaa agctcattaa tgaaattgaa gaaatgggtg gaatggccaa
     1561 agctgtagct gagggaatac ctaaacttcg aattgaagaa tgtgctgccc gaagacaagc
     1621 tagaatagat tctggttctg aagtaattgt tggagtaaat aagtaccagt tggaaaaaga
     1681 agacgctgta gaagttctgg caattgataa tacttcagtg cgaaacaggc agattgaaaa
     1741 acttaagaag atcaaatcca gcagggatca agctttggct gaacgttgtc ttgctgcact
     1801 aaccgaatgt gctgctagcg gagatggaaa tatcctggct cttgcagtgg atgcatctcg
     1861 ggcaagatgt acagtgggag aaatcacaga tgccctgaaa aaggtatttg gtgaacataa
     1921 agcgaatgat cgaatggtga gtggagcata tcgccaggaa tttggagaaa gtaaagagat
     1981 aacatctgct atcaagaggg ttcataaatt catggaacgt gaaggtcgca gacctcgtct
     2041 tcttgtagca aaaatgggac aagatggcca tgacagagga gcaaaagtta ttgctacagg
     2101 atttgctgat cttggttttg atgtggacat aggccctctt ttccagactc ctcgtgaagt
     2161 ggcccagcag gctgtggatg cggatgtgca tgctgtgggc ataagcaccc tcgctgctgg
     2221 tcataaaacc ctagttcctg aactcatcaa agaacttaac tcccttggac ggccagatat
     2281 tcttgtcatg tgtggagggg tgataccacc tcaggattat gaatttctgt ttgaagttgg
     2341 tgtttccaat gtatttggtc ctgggactcg aattccaaag gctgccgttc aggtgcttga
     2401 tgatattgag aagtgtttgg aaaagaagca gcaatctgta taatatcctc tttttgtttt
     2461 agcttttgtc taaaatatta ttttagttat gatcaaagaa gagagtaaag ctatgtcttc
     2521 aatttaattt caatacctga tttgtacttt ccttgaaagc tttactttaa aataccttac
     2581 ttataggcct ggtgtcatgc tataagtatg tacatacagt ttcacttcaa aaataaaaaa
     2641 aaaatcccta aaaactctct atactctcta taacaatact ttatcaagaa ctctggacaa
     2701 tggtattatt tttaaaaatc atggtgatgt atttattaga atgtttctta taaatctgtt
     2761 tactttttat attaagaatt aaactgtacc taaaaaaact ctgactattc ccatttgtca
     2821 gtttagcatt acattgtctt gagcaccaga aaataaaatc catatattaa taaaaaccta
     2881 tcttgaaaaa ctagtggagt gtatttacgt ggcaaaagag attttgggag gagtcctcag
     2941 ccaaattcta ccagaatcac cttaataaaa gaagtattaa aatcaagcac agcaggttgg
     3001 aatatgggga atttgacagt atatttcttc aagtctgagt ttactttctt cctgatcatg
     3061 accatctgac cttgttattt ctgggcttgg ctcaagacca aggagagtgg atgttgatga
     3121 acattccttt aaataaaagt gcttaggttg tagttatggc tttgtctaga atggtgatgt
     3181 caactgtgag tgtaggtctg tgatatagaa agaattcaac tttccagatc tagaaagatg
     3241 ctaccttgca tagatttgct ccttaaacat aaattgcaaa aataaaaata tcacagagaa
     3301 cacctgtact ttgcttactg aaagatttgc tcactaaaga aggaaagttg ccatttacct
     3361 gtttaacaaa tctgcacatc ctgcacatgt tccccagaat gtaaaataaa aaaagtttaa
     3421 ataaaaaagg aaagttgtcc tttattgtta acatgatcca ttacatgaat ataacataaa
     3481 taattatctt ttttaataaa tttctattgt attagatcag agagcagtct tttggaaagt
     3541 attatagata cattactgta gaatttacaa actcattgta atacaatgta tttaattttc
     3601 agaatatgat tatctgaatg gtattgtcat gattattgtt cccattttca gatgaacact
     3661 gacttcaagt ccaatgatat attcactatg ccattttatt gacttttcct tgtaaagcaa
     3721 tgcacactaa tttagtaagt atttggtttc tgtgatgtgt tcagttgcgt gctgggtgac
     3781 atgtgaaata aactcatcct tgaggaattt a
//
LOCUS       NM_000256               4217 bp    mRNA    linear   PRI 17-SEP-2023
DEFINITION  Homo sapiens myosin binding protein C3 (MYBPC3), mRNA.
ACCESSION   NM_000256
VERSION     NM_000256.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4217)
  AUTHORS   Beltrami M, Fedele E, Fumagalli C, Mazzarotto F, Girolami F,
            Ferrantini C, Coppini R, Tofani L, Bertaccini B, Poggesi C and
            Olivotto I.
  TITLE     Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus
            MYH7-Related Hypertrophic Cardiomyopathy
  JOURNAL   Circ Genom Precis Med 16 (4), 363-371 (2023)
   PUBMED   37409452
  REMARK    GeneRIF: Long-Term Prevalence of Systolic Dysfunction in MYBPC3
            Versus MYH7-Related Hypertrophic Cardiomyopathy. Review article
REFERENCE   2  (bases 1 to 4217)
  AUTHORS   Tudurachi BS, Zavoi A, Leonte A, Tapoi L, Ureche C, Birgoan SG,
            Chiuariu T, Anghel L, Radu R, Sascau RA and Statescu C.
  TITLE     An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy
  JOURNAL   Int J Mol Sci 24 (13), 10510 (2023)
   PUBMED   37445689
  REMARK    GeneRIF: An Update on MYBPC3 Gene Mutation in Hypertrophic
            Cardiomyopathy. Review article Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4217)
  AUTHORS   Filatova EV, Krylova NS, Klass AL, Kovalevskaya EA, Maslova MY,
            Shadrina MI, Poteshkina NG and Slominsky PA.
  TITLE     [No Effect of the p.Arg230His Variant Of The VCL Protein on the
            Course of the Hypertrophic Cardiomyopathy In Russian Family Carrying
            The p.Gln1233Ter Pathogenic Variant In The MYBPC3 Gene]
  JOURNAL   Kardiologiia 63 (3), 28-35 (2023)
   PUBMED   37061858
  REMARK    GeneRIF: [No Effect of the p.Arg230His Variant Of The VCL Protein on
            the Course of the Hypertrophic Cardiomyopathy In Russian Family
            Carrying The p.Gln1233Ter Pathogenic Variant In The MYBPC3 Gene].
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4217)
  AUTHORS   Fernandez Suarez N, Viadero Ubierna MT, Garde Basas J, Onecha de la
            Fuente ME, Amigo Lanza MT, Martin Gorria G, Rivas Perez A, Ruiz
            Guerrero L and Gonzalez-Lamuno D.
  TITLE     Description of a Cohort with a New Truncating MYBPC3 Variant for
            Hypertrophic Cardiomyopathy in Northern Spain
  JOURNAL   Genes (Basel) 14 (4), 840 (2023)
   PUBMED   37107598
  REMARK    GeneRIF: Description of a Cohort with a New Truncating MYBPC3
            Variant for Hypertrophic Cardiomyopathy in Northern Spain.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4217)
  AUTHORS   Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B,
            Gautel M, Labeit S, James M, Beckmann J, Weissenbach J, Vosberg HP,
            Fiszman M, Komajda M and Schwartz K.
  TITLE     Cardiac myosin binding protein-C gene splice acceptor site mutation
            is associated with familial hypertrophic cardiomyopathy
  JOURNAL   Nat Genet 11 (4), 438-440 (1995)
   PUBMED   7493026
REFERENCE   6  (bases 1 to 4217)
  AUTHORS   Watkins H, Conner D, Thierfelder L, Jarcho JA, MacRae C, McKenna WJ,
            Maron BJ, Seidman JG and Seidman CE.
  TITLE     Mutations in the cardiac myosin binding protein-C gene on chromosome
            11 cause familial hypertrophic cardiomyopathy
  JOURNAL   Nat Genet 11 (4), 434-437 (1995)
   PUBMED   7493025
REFERENCE   7  (bases 1 to 4217)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301725
REFERENCE   8  (bases 1 to 4217)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301486
REFERENCE   9  (bases 1 to 4217)
  AUTHORS   Moos,C. and Feng,I.N.
  TITLE     Effect of C-protein on actomyosin ATPase
  JOURNAL   Biochim Biophys Acta 632 (2), 141-149 (1980)
   PUBMED   6448079
REFERENCE   10  (bases 1 to 4217)
  AUTHORS   Starr,R. and Offer,G.
  TITLE     The interaction of C-protein with heavy meromyosin and subfragment-2
  JOURNAL   Biochem J 171 (3), 813-816 (1978)
   PUBMED   352343
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: EU747719.1, EU747718.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000545968.6/ ENSP00000442795.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from EF560722.1, AU140784.1,
            AJ708511.1, AL691822.1, DA563514.1 and AJ708699.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 5, 2007 this sequence version replaced NM_000256.2.
            Summary: MYBPC3 encodes the cardiac isoform of myosin-binding
            protein C. Myosin-binding protein C is a myosin-associated protein
            found in the cross-bridge-bearing zone (C region) of A bands in
            striated muscle. MYBPC3 is expressed exclusively in heart muscle
            and is a key regulator of cardiac contraction. Mutations in this
            gene are a frequent cause of familial hypertrophic cardiomyopathy.
            [provided by RefSeq, May 2022].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4217
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..4217
                     /gene="MYBPC3"
                     /gene_synonym="CMD1MM; CMH4; cMyBP-C; FHC; LVNC10; MYBP-C"
                     /note="myosin binding protein C3"
                     /db_xref="GeneID:4607"
                     /db_xref="HGNC:HGNC:7551"
                     /db_xref="MIM:600958"
     CDS             56..3880
                     /gene="MYBPC3"
                     /gene_synonym="CMD1MM; CMH4; cMyBP-C; FHC; LVNC10; MYBP-C"
                     /note="myosin binding protein C, cardiac"
                     /codon_start=1
                     /product="myosin-binding protein C, cardiac-type"
                     /protein_id="NP_000247.2"
                     /db_xref="CCDS:CCDS53621.1"
                     /db_xref="GeneID:4607"
                     /db_xref="HGNC:HGNC:7551"
                     /db_xref="MIM:600958"
                     /translation="MPEPGKKPVSAFSKKPRSVEVAAGSPAVFEAETERAGVKVRWQRG
                     GSDISASNKYGLATEGTRHTLTVREVGPADQGSYAVIAGSSKVKFDLKVIEAEKAEPML
                     APAPAPAEATGAPGEAPAPAAELGESAPSPKGSSSAALNGPTPGAPDDPIGLFVMRPQD
                     GEVTVGGSITFSARVAGASLLKPPVVKWFKGKWVDLSSKVGQHLQLHDSYDRASKVYLF
                     ELHITDAQPAFTGSYRCEVSTKDKFDCSNFNLTVHEAMGTGDLDLLSAFRRTSLAGGGR
                     RISDSHEDTGILDFSSLLKKRDSFRTPRDSKLEAPAEEDVWEILRQAPPSEYERIAFQY
                     GVTDLRGMLKRLKGMRRDEKKSTAFQKKLEPAYQVSKGHKIRLTVELADHDAEVKWLKN
                     GQEIQMSGSKYIFESIGAKRTLTISQCSLADDAAYQCVVGGEKCSTELFVKEPPVLITR
                     PLEDQLVMVGQRVEFECEVSEEGAQVKWLKDGVELTREETFKYRFKKDGQRHHLIINEA
                     MLEDAGHYALCTSGGQALAELIVQEKKLEVYQSIADLMVGAKDQAVFKCEVSDENVRGV
                     WLKNGKELVPDSRIKVSHIGRVHKLTIDDVTPADEADYSFVPEGFACNLSAKLHFMEVK
                     IDFVPRQEPPKIHLDCPGRIPDTIVVVAGNKLRLDVPISGDPAPTVIWQKAITQGNKAP
                     ARPAPDAPEDTGDSDEWVFDKKLLCETEGRVRVETTKDRSIFTVEGAEKEDEGVYTVTV
                     KNPVGEDQVNLTVKVIDVPDAPAAPKISNVGEDSCTVQWEPPAYDGGQPILGYILERKK
                     KKSYRWMRLNFDLIQELSHEARRMIEGVVYEMRVYAVNAIGMSRPSPASQPFMPIGPPS
                     EPTHLAVEDVSDTTVSLKWRPPERVGAGGLDGYSVEYCPEGCSEWVAALQGLTEHTSIL
                     VKDLPTGARLLFRVRAHNMAGPGAPVTTTEPVTVQEILQRPRLQLPRHLRQTIQKKVGE
                     PVNLLIPFQGKPRPQVTWTKEGQPLAGEEVSIRNSPTDTILFIRAARRVHSGTYQVTVR
                     IENMEDKATLVLQVVDKPSPPQDLRVTDAWGLNVALEWKPPQDVGNTELWGYTVQKADK
                     KTMEWFTVLEHYRRTHCVVPELIIGNGYYFRVFSQNMVGFSDRAATTKEPVFIPRPGIT
                     YEPPNYKALDFSEAPSFTQPLVNRSVIAGYTAMLCCAVRGSPKPKISWFKNGLDLGEDA
                     RFRMFSKQGVLTLEIRKPCPFDGGIYVCRATNLQGEARCECRLEVRVPQ"
     misc_feature    56..58
                     /gene="MYBPC3"
                     /gene_synonym="CMD1MM; CMH4; cMyBP-C; FHC; LVNC10; MYBP-C"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000250|UniProtKB:O70468; propagated from
                     UniProtKB/Swiss-Prot (Q14896.4); acetylation site"
     misc_feature    194..196
                     /gene="MYBPC3"
                     /gene_synonym="CMD1MM; CMH4; cMyBP-C; FHC; LVNC10; MYBP-C"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O70468; propagated from
                     UniProtKB/Swiss-Prot (Q14896.4); phosphorylation site"
     misc_feature    374..514
                     /gene="MYBPC3"
                     /gene_synonym="CMD1MM; CMH4; cMyBP-C; FHC; LVNC10; MYBP-C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14896.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    878..880
                     /gene="MYBPC3"
                     /gene_synonym="CMD1MM; CMH4; cMyBP-C; FHC; LVNC10; MYBP-C"
                     /note="Phosphoserine, by PKA and PKC.
                     /evidence=ECO:0000250|UniProtKB:O70468; propagated from
                     UniProtKB/Swiss-Prot (Q14896.4); phosphorylation site"
     misc_feature    905..907
                     /gene="MYBPC3"
                     /gene_synonym="CMD1MM; CMH4; cMyBP-C; FHC; LVNC10; MYBP-C"
                     /note="Phosphoserine, by PKA and PKC.
                     /evidence=ECO:0000250|UniProtKB:O70468; propagated from
                     UniProtKB/Swiss-Prot (Q14896.4); phosphorylation site"
     misc_feature    965..967
                     /gene="MYBPC3"
                     /gene_synonym="CMD1MM; CMH4; cMyBP-C; FHC; LVNC10; MYBP-C"
                     /note="Phosphoserine, by PKA and PKC.
                     /evidence=ECO:0000250|UniProtKB:O70468; propagated from
                     UniProtKB/Swiss-Prot (Q14896.4); phosphorylation site"
     misc_feature    986..988
                     /gene="MYBPC3"
                     /gene_synonym="CMD1MM; CMH4; cMyBP-C; FHC; LVNC10; MYBP-C"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O70468; propagated from
                     UniProtKB/Swiss-Prot (Q14896.4); phosphorylation site"
     misc_feature    1334..1336
                     /gene="MYBPC3"
                     /gene_synonym="CMD1MM; CMH4; cMyBP-C; FHC; LVNC10; MYBP-C"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O70468; propagated from
                     UniProtKB/Swiss-Prot (Q14896.4); phosphorylation site"
     misc_feature    1703..1705
                     /gene="MYBPC3"
                     /gene_synonym="CMD1MM; CMH4; cMyBP-C; FHC; LVNC10; MYBP-C"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O70468; propagated from
                     UniProtKB/Swiss-Prot (Q14896.4); phosphorylation site"
     misc_feature    1874..1876
                     /gene="MYBPC3"
                     /gene_synonym="CMD1MM; CMH4; cMyBP-C; FHC; LVNC10; MYBP-C"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P56741; propagated from
                     UniProtKB/Swiss-Prot (Q14896.4); phosphorylation site"
     misc_feature    3776..3778
                     /gene="MYBPC3"
                     /gene_synonym="CMD1MM; CMH4; cMyBP-C; FHC; LVNC10; MYBP-C"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:O70468; propagated from
                     UniProtKB/Swiss-Prot (Q14896.4); methylation site"
     regulatory      4186..4191
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYBPC3"
                     /gene_synonym="CMD1MM; CMH4; cMyBP-C; FHC; LVNC10; MYBP-C"
                     /note="hexamer: AATAAA"
     polyA_site      4217
                     /gene="MYBPC3"
                     /gene_synonym="CMD1MM; CMH4; cMyBP-C; FHC; LVNC10; MYBP-C"
                     /note="major polyA site"
ORIGIN
        1 agtccctctt tgggtgacct gtgcctgctt cgtgcctggt gtgacgtctc tcaggatgcc
       61 tgagccgggg aagaagccag tctcagcttt tagcaagaag ccacggtcag tggaagtggc
      121 cgcaggcagc cctgccgtgt tcgaggccga gacagagcgg gcaggagtga aggtgcgctg
      181 gcagcgcgga ggcagtgaca tcagcgccag caacaagtac ggcctggcca cagagggcac
      241 acggcatacg ctgacagtgc gggaagtggg ccctgccgac cagggatctt acgcagtcat
      301 tgctggctcc tccaaggtca agttcgacct caaggtcata gaggcagaga aggcagagcc
      361 catgctggcc cctgcccctg cccctgctga ggccactgga gcccctggag aagccccggc
      421 cccagccgct gagctgggag aaagtgcccc aagtcccaaa gggtcaagct cagcagctct
      481 caatggtcct acccctggag cccccgatga ccccattggc ctcttcgtga tgcggccaca
      541 ggatggcgag gtgaccgtgg gtggcagcat caccttctca gcccgcgtgg ccggcgccag
      601 cctcctgaag ccgcctgtgg tcaagtggtt caagggcaaa tgggtggacc tgagcagcaa
      661 ggtgggccag cacctgcagc tgcacgacag ctacgaccgc gccagcaagg tctatctgtt
      721 cgagctgcac atcaccgatg cccagcctgc cttcactggc agctaccgct gtgaggtgtc
      781 caccaaggac aaatttgact gctccaactt caatctcact gtccacgagg ccatgggcac
      841 cggagacctg gacctcctat cagccttccg ccgcacgagc ctggctggag gtggtcggcg
      901 gatcagtgat agccatgagg acactgggat tctggacttc agctcactgc tgaaaaagag
      961 agacagtttc cggaccccga gggactcgaa gctggaggca ccagcagagg aggacgtgtg
     1021 ggagatccta cggcaggcac ccccatctga gtacgagcgc atcgccttcc agtacggcgt
     1081 cactgacctg cgcggcatgc taaagaggct caagggcatg aggcgcgatg agaagaagag
     1141 cacagccttt cagaagaagc tggagccggc ctaccaggtg agcaaaggcc acaagatccg
     1201 gctgaccgtg gaactggctg accatgacgc tgaggtcaaa tggctcaaga atggccagga
     1261 gatccagatg agcggcagca agtacatctt tgagtccatc ggtgccaagc gtaccctgac
     1321 catcagccag tgctcattgg cggacgacgc agcctaccag tgcgtggtgg gtggcgagaa
     1381 gtgtagcacg gagctctttg tgaaagagcc ccctgtgctc atcacgcgcc ccttggagga
     1441 ccagctggtg atggtggggc agcgggtgga gtttgagtgt gaagtatcgg aggagggggc
     1501 gcaagtcaaa tggctgaagg acggggtgga gctgacccgg gaggagacct tcaaataccg
     1561 gttcaagaag gacgggcaga gacaccacct gatcatcaac gaggccatgc tggaggacgc
     1621 ggggcactat gcactgtgca ctagcggggg ccaggcgctg gctgagctca ttgtgcagga
     1681 aaagaagctg gaggtgtacc agagcatcgc agacctgatg gtgggcgcaa aggaccaggc
     1741 ggtgttcaaa tgtgaggtct cagatgagaa tgttcggggt gtgtggctga agaatgggaa
     1801 ggagctggtg cccgacagcc gcataaaggt gtcccacatc gggcgggtcc acaaactgac
     1861 cattgacgac gtcacacctg ccgacgaggc tgactacagc tttgtgcccg agggcttcgc
     1921 ctgcaacctg tcagccaagc tccacttcat ggaggtcaag attgacttcg tacccaggca
     1981 ggaacctccc aagatccacc tggactgccc aggccgcata ccagacacca ttgtggttgt
     2041 agctggaaat aagctacgtc tggacgtccc tatctctggg gaccctgctc ccactgtgat
     2101 ctggcagaag gctatcacgc aggggaataa ggccccagcc aggccagccc cagatgcccc
     2161 agaggacaca ggtgacagcg atgagtgggt gtttgacaag aagctgctgt gtgagaccga
     2221 gggccgggtc cgcgtggaga ccaccaagga ccgcagcatc ttcacggtcg agggggcaga
     2281 gaaggaagat gagggcgtct acacggtcac agtgaagaac cctgtgggcg aggaccaggt
     2341 caacctcaca gtcaaggtca tcgacgtgcc agacgcacct gcggccccca agatcagcaa
     2401 cgtgggagag gactcctgca cagtacagtg ggagccgcct gcctacgatg gcgggcagcc
     2461 catcctgggc tacatcctgg agcgcaagaa gaagaagagc taccggtgga tgcggctgaa
     2521 cttcgacctg attcaggagc tgagtcatga agcgcggcgc atgatcgagg gcgtggtgta
     2581 cgagatgcgc gtctacgcgg tcaacgccat cggcatgtcc aggcccagcc ctgcctccca
     2641 gcccttcatg cctatcggtc cccccagcga acccacccac ctggcagtag aggacgtctc
     2701 tgacaccacg gtctccctca agtggcggcc cccagagcgc gtgggagcag gaggcctgga
     2761 tggctacagc gtggagtact gcccagaggg ctgctcagag tgggtggctg ccctgcaggg
     2821 gctgacagag cacacatcga tactggtgaa ggacctgccc acgggggccc ggctgctttt
     2881 ccgagtgcgg gcacacaata tggcagggcc tggagcccct gttaccacca cggagccggt
     2941 gacagtgcag gagatcctgc aacggccacg gcttcagctg cccaggcacc tgcgccagac
     3001 cattcagaag aaggtcgggg agcctgtgaa ccttctcatc cctttccagg gcaagccccg
     3061 gcctcaggtg acctggacca aagaggggca gcccctggca ggcgaggagg tgagcatccg
     3121 caacagcccc acagacacca tcctgttcat ccgggccgct cgccgcgtgc attcaggcac
     3181 ttaccaggtg acggtgcgca ttgagaacat ggaggacaag gccacgctgg tgctgcaggt
     3241 tgttgacaag ccaagtcctc cccaggatct ccgggtgact gacgcctggg gtcttaatgt
     3301 ggctctggag tggaagccac cccaggatgt cggcaacacg gagctctggg ggtacacagt
     3361 gcagaaagcc gacaagaaga ccatggagtg gttcaccgtc ttggagcatt accgccgcac
     3421 ccactgcgtg gtgccagagc tcatcattgg caatggctac tacttccgcg tcttcagcca
     3481 gaatatggtt ggctttagtg acagagcggc caccaccaag gagcccgtct ttatccccag
     3541 accaggcatc acctatgagc cacccaacta taaggccctg gacttctccg aggccccaag
     3601 cttcacccag cccctggtga accgctcggt catcgcgggc tacactgcta tgctctgctg
     3661 tgctgtccgg ggtagcccca agcccaagat ttcctggttc aagaatggcc tggacctggg
     3721 agaagacgcc cgcttccgca tgttcagcaa gcagggagtg ttgactctgg agattagaaa
     3781 gccctgcccc tttgacgggg gcatctatgt ctgcagggcc accaacttac agggcgaggc
     3841 acggtgtgag tgccgcctgg aggtgcgagt gcctcagtga ccaggctggc tcctggggat
     3901 ggccaggtac aaccggatgc cagccccgtg ccaggagcct ggagggaagt tggggaaacc
     3961 cctccctact gttggatgta tgtgtgacaa gtgtgtctcc tgtgctgcga tgggggatca
     4021 gcagggcagt tgtcgggcag tcctgagtgg gtgttgcaca gactggtcca cagggctcct
     4081 gaaggaagcc cctggatctt tggggtaaaa ggagggtggc ctcaagaaac aatgtctggg
     4141 gacaggcctt tctggcctgc tatgtcttcc caatgtttat tgggcaataa aagataagtg
     4201 cagtcacaga gaactca
//
LOCUS       NM_000257               6027 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens myosin heavy chain 7 (MYH7), transcript variant 1,
            mRNA.
ACCESSION   NM_000257
VERSION     NM_000257.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6027)
  AUTHORS   Beltrami M, Fedele E, Fumagalli C, Mazzarotto F, Girolami F,
            Ferrantini C, Coppini R, Tofani L, Bertaccini B, Poggesi C and
            Olivotto I.
  TITLE     Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus
            MYH7-Related Hypertrophic Cardiomyopathy
  JOURNAL   Circ Genom Precis Med 16 (4), 363-371 (2023)
   PUBMED   37409452
  REMARK    GeneRIF: Long-Term Prevalence of Systolic Dysfunction in MYBPC3
            Versus MYH7-Related Hypertrophic Cardiomyopathy. Review article
REFERENCE   2  (bases 1 to 6027)
  AUTHORS   Zheng K, Liu L and Zhang YQ.
  TITLE     [Recent research on childhood hypertrophic cardiomyopathy caused by
            MYH7 gene mutations]
  JOURNAL   Zhongguo Dang Dai Er Ke Za Zhi 25 (4), 425-430 (2023)
   PUBMED   37073850
  REMARK    GeneRIF: [Recent research on childhood hypertrophic cardiomyopathy
            caused by MYH7 gene mutations].
REFERENCE   3  (bases 1 to 6027)
  AUTHORS   Loiben AM, Chien WM, Friedman CE, Chao LS, Weber G, Goldstein A,
            Sniadecki NJ, Murry CE and Yang KC.
  TITLE     Cardiomyocyte Apoptosis Is Associated with Contractile Dysfunction
            in Stem Cell Model of MYH7 E848G Hypertrophic Cardiomyopathy
  JOURNAL   Int J Mol Sci 24 (5), 4909 (2023)
   PUBMED   36902340
  REMARK    GeneRIF: Cardiomyocyte Apoptosis Is Associated with Contractile
            Dysfunction in Stem Cell Model of MYH7 E848G Hypertrophic
            Cardiomyopathy. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6027)
  AUTHORS   Oldfors A.
  TITLE     Hereditary myosin myopathies
  JOURNAL   Neuromuscul Disord 17 (5), 355-367 (2007)
   PUBMED   17434305
  REMARK    Review article
REFERENCE   5  (bases 1 to 6027)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301725
REFERENCE   6  (bases 1 to 6027)
  AUTHORS   Lamont,P. and Laing,N.G.
  TITLE     Laing Distal Myopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301606
REFERENCE   7  (bases 1 to 6027)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301486
REFERENCE   8  (bases 1 to 6027)
  AUTHORS   DeChene,E.T., Kang,P.B. and Beggs,A.H.
  TITLE     Congenital Fiber-Type Disproportion - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301436
REFERENCE   9  (bases 1 to 6027)
  AUTHORS   Warlick CA, Ramachandra S, Mishra S and Donis-Keller H.
  TITLE     Dinucleotide repeat polymorphism at the human cardiac beta-myosin
            heavy chain gene (HMSYHCO1) locus
  JOURNAL   Hum Mol Genet 1 (2), 136 (1992)
   PUBMED   1301151
REFERENCE   10  (bases 1 to 6027)
  AUTHORS   Fougerousse F, Dufour C, Roudaut C and Beckmann JS.
  TITLE     Dinucleotide repeat polymorphism at the human gene for cardiac
            beta-myosin heavy chain (MYH6)
  JOURNAL   Hum Mol Genet 1 (1), 64 (1992)
   PUBMED   1301139
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M58018.1, EU747717.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968540
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000355349.4/ ENSP00000347507.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from EU747717.1, M58018.1 and
            BC112173.1.
            On Nov 22, 2018 this sequence version replaced NM_000257.3.
            Summary: Muscle myosin is a hexameric protein containing 2 heavy
            chain subunits, 2 alkali light chain subunits, and 2 regulatory
            light chain subunits. This gene encodes the beta (or slow) heavy
            chain subunit of cardiac myosin. It is expressed predominantly in
            normal human ventricle. It is also expressed in skeletal muscle
            tissues rich in slow-twitch type I muscle fibers. Changes in the
            relative abundance of this protein and the alpha (or fast) heavy
            subunit of cardiac myosin correlate with the contractile velocity
            of cardiac muscle. Its expression is also altered during thyroid
            hormone depletion and hemodynamic overloading. Mutations in this
            gene are associated with familial hypertrophic cardiomyopathy,
            myosin storage myopathy, dilated cardiomyopathy, and Laing distal
            myopathy. [provided by RefSeq, May 2022].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6027
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..6027
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="myosin heavy chain 7"
                     /db_xref="GeneID:4625"
                     /db_xref="HGNC:HGNC:7577"
                     /db_xref="MIM:160760"
     misc_feature    76..78
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="upstream in-frame stop codon"
     CDS             106..5913
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="myosin, heavy polypeptide 7, cardiac muscle, beta;
                     myhc-slow; cardiac muscle myosin heavy chain 7 beta;
                     rhabdomyosarcoma antigen MU-RMS-40.7A; myHC-beta; myosin 7;
                     myosin, heavy chain 7, cardiac muscle, beta; myosin heavy
                     chain beta-subunit"
                     /codon_start=1
                     /product="myosin-7"
                     /protein_id="NP_000248.2"
                     /db_xref="CCDS:CCDS9601.1"
                     /db_xref="GeneID:4625"
                     /db_xref="HGNC:HGNC:7577"
                     /db_xref="MIM:160760"
                     /translation="MGDSEMAVFGAAAPYLRKSEKERLEAQTRPFDLKKDVFVPDDKQE
                     FVKAKIVSREGGKVTAETEYGKTVTVKEDQVMQQNPPKFDKIEDMAMLTFLHEPAVLYN
                     LKDRYGSWMIYTYSGLFCVTVNPYKWLPVYTPEVVAAYRGKKRSEAPPHIFSISDNAYQ
                     YMLTDRENQSILITGESGAGKTVNTKRVIQYFAVIAAIGDRSKKDQSPGKGTLEDQIIQ
                     ANPALEAFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAER
                     DYHIFYQILSNKKPELLDMLLITNNPYDYAFISQGETTVASIDDAEELMATDNAFDVLG
                     FTSEEKNSMYKLTGAIMHFGNMKFKLKQREEQAEPDGTEEADKSAYLMGLNSADLLKGL
                     CHPRVKVGNEYVTKGQNVQQVIYATGALAKAVYERMFNWMVTRINATLETKQPRQYFIG
                     VLDIAGFEIFDFNSFEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDL
                     QACIDLIEKPMGIMSILEEECMFPKATDMTFKAKLFDNHLGKSANFQKPRNIKGKPEAH
                     FSLIHYAGIVDYNIIGWLQKNKDPLNETVVGLYQKSSLKLLSTLFANYAGADAPIEKGK
                     GKAKKGSSFQTVSALHRENLNKLMTNLRSTHPHFVRCIIPNETKSPGVMDNPLVMHQLR
                     CNGVLEGIRICRKGFPNRILYGDFRQRYRILNPAAIPEGQFIDSRKGAEKLLSSLDIDH
                     NQYKFGHTKVFFKAGLLGLLEEMRDERLSRIITRIQAQSRGVLARMEYKKLLERRDSLL
                     VIQWNIRAFMGVKNWPWMKLYFKIKPLLKSAEREKEMASMKEEFTRLKEALEKSEARRK
                     ELEEKMVSLLQEKNDLQLQVQAEQDNLADAEERCDQLIKNKIQLEAKVKEMNERLEDEE
                     EMNAELTAKKRKLEDECSELKRDIDDLELTLAKVEKEKHATENKVKNLTEEMAGLDEII
                     AKLTKEKKALQEAHQQALDDLQAEEDKVNTLTKAKVKLEQQVDDLEGSLEQEKKVRMDL
                     ERAKRKLEGDLKLTQESIMDLENDKQQLDERLKKKDFELNALNARIEDEQALGSQLQKK
                     LKELQARIEELEEELEAERTARAKVEKLRSDLSRELEEISERLEEAGGATSVQIEMNKK
                     REAEFQKMRRDLEEATLQHEATAAALRKKHADSVAELGEQIDNLQRVKQKLEKEKSEFK
                     LELDDVTSNMEQIIKAKANLEKMCRTLEDQMNEHRSKAEETQRSVNDLTSQRAKLQTEN
                     GELSRQLDEKEALISQLTRGKLTYTQQLEDLKRQLEEEVKAKNALAHALQSARHDCDLL
                     REQYEEETEAKAELQRVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQEAEE
                     AVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAAALDKKQRNFDKILAEWKQKYE
                     ESQSELESSQKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISDLTEQLGSSG
                     KTIHELEKVRKQLEAEKMELQSALEEAEASLEHEEGKILRAQLEFNQIKAEIERKLAEK
                     DEEMEQAKRNHLRVVDSLQTSLDAETRSRNEALRVKKKMEGDLNEMEIQLSHANRMAAE
                     AQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRNNLLQAELEELRAVVEQTER
                     SRKLAEQELIETSERVQLLHSQNTSLINQKKKMDADLSQLQTEVEEAVQECRNAEEKAK
                     KAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEAEQIALKGGKKQLQKL
                     EARVRELENELEAEQKRNAESVKGMRKSERRIKELTYQTEEDRKNLLRLQDLVDKLQLK
                     VKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVNKLRAKSRDIGTKGLN
                     EE"
     misc_feature    490..492
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="N6,N6,N6-trimethyllysine. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P12883.5);
                     methylation site"
     misc_feature    1237..1239
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P02563; propagated from
                     UniProtKB/Swiss-Prot (P12883.5); phosphorylation site"
     misc_feature    2068..2136
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="propagated from UniProtKB/Swiss-Prot (P12883.5);
                     Region: Actin-binding"
     misc_feature    2374..2418
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="propagated from UniProtKB/Swiss-Prot (P12883.5);
                     Region: Actin-binding"
     misc_feature    3514..3516
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P02563; propagated from
                     UniProtKB/Swiss-Prot (P12883.5); phosphorylation site"
     misc_feature    3910..3912
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q02566; propagated from
                     UniProtKB/Swiss-Prot (P12883.5); phosphorylation site"
     misc_feature    3949..3951
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P02563; propagated from
                     UniProtKB/Swiss-Prot (P12883.5); phosphorylation site"
     misc_feature    4027..4029
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P02563; propagated from
                     UniProtKB/Swiss-Prot (P12883.5); phosphorylation site"
     misc_feature    4030..4032
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P02563; propagated from
                     UniProtKB/Swiss-Prot (P12883.5); phosphorylation site"
     misc_feature    4633..4635
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P02564; propagated from
                     UniProtKB/Swiss-Prot (P12883.5); phosphorylation site"
     misc_feature    4642..4644
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P02563; propagated from
                     UniProtKB/Swiss-Prot (P12883.5); phosphorylation site"
     misc_feature    5824..5910
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="propagated from UniProtKB/Swiss-Prot (P12883.5);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      6002..6007
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="hexamer: AATAAA"
     polyA_site      6027
                     /gene="MYH7"
                     /gene_synonym="CMD1S; CMH1; CMYP7A; CMYP7B; MPD1; MYHCB;
                     SPMD; SPMM"
                     /note="major polyA site"
ORIGIN
        1 acagctctgt cctgctctgt gtctttccct gctgctctca ggtcccctgc aggccttggc
       61 ccctttcctc atctgtagac acacttgagt agcccaggca cagccatggg agattcggag
      121 atggcagtct ttggggctgc cgccccctac ctgcgcaagt cagagaagga gcggctagaa
      181 gcgcagacca ggccttttga cctcaagaag gatgtcttcg tgcctgatga caaacaggag
      241 tttgtcaagg ccaagatcgt gtctcgagag ggtggcaaag tcactgccga gaccgagtat
      301 ggcaagacag tgaccgtgaa ggaggaccag gtgatgcagc agaacccacc caagttcgac
      361 aaaatcgagg acatggccat gctgaccttc ctgcatgagc ccgcggtgct ctacaacctc
      421 aaggatcgct acggctcctg gatgatctac acctactcgg gcctcttctg tgtcaccgtc
      481 aacccttaca agtggctgcc ggtgtacact cctgaggtgg tggctgccta ccggggcaag
      541 aagaggagcg aggccccgcc ccacatcttc tccatctccg acaacgccta tcagtacatg
      601 ctgacagaca gagaaaacca gtccatcctg atcaccggag aatccggagc agggaagaca
      661 gtcaacacca agagggtcat ccagtacttt gctgttattg cagccattgg ggaccgcagc
      721 aagaaggacc agagcccggg caagggcacc ctggaggacc agatcatcca ggccaaccct
      781 gctctggagg cctttggcaa tgccaagacc gtccggaacg acaactcctc ccgcttcggg
      841 aaattcattc gaattcattt tggggcaaca ggaaagttgg catctgcaga catagagacc
      901 tatcttctgg aaaaatccag agttattttc cagctgaaag cagagagaga ttatcacatt
      961 ttctaccaaa tcctgtctaa caaaaagcct gagctgctgg acatgctgct gatcaccaac
     1021 aacccctacg attatgcatt catctcccaa ggagagacca ccgtggcctc cattgatgac
     1081 gctgaggagc tcatggccac tgataacgct tttgatgtgc tgggcttcac ttcagaggag
     1141 aaaaactcca tgtataagct gacaggcgcc atcatgcact ttggaaacat gaagttcaag
     1201 ctgaagcagc gggaggagca ggcggagcca gacggcactg aagaggctga caagtctgcc
     1261 tacctcatgg ggctgaactc agccgacctg ctcaaggggc tgtgccaccc tcgggtgaaa
     1321 gtgggcaatg agtacgtcac caaggggcag aatgtccagc aggtgatata tgccactggg
     1381 gcactggcca aggcagtgta tgagaggatg ttcaactgga tggtgacgcg catcaatgcc
     1441 accctggaga ccaagcagcc acgccagtac ttcataggag tcctggacat cgctggcttc
     1501 gagatcttcg atttcaacag ctttgagcag ctctgcatca acttcaccaa cgagaagctg
     1561 cagcagttct tcaaccacca catgtttgtg ctggagcagg aggagtacaa gaaggagggc
     1621 atcgagtgga cattcattga ctttggcatg gacctgcagg cctgcattga cctcatcgag
     1681 aagcccatgg gcatcatgtc catcctggaa gaggagtgca tgttccccaa ggccaccgac
     1741 atgaccttca aggccaagct gtttgacaac cacctgggca aatccgccaa cttccagaag
     1801 ccacgcaata tcaaggggaa gcctgaagcc cacttctccc tgatccacta tgccggcatc
     1861 gtggactaca acatcattgg ctggctgcag aagaacaagg atcctctcaa tgagactgtc
     1921 gtgggcttgt atcagaagtc ttccctcaag ctgctcagca ccctgtttgc caactatgct
     1981 ggggctgatg cgcctattga gaagggcaaa ggcaaggcca agaaaggctc gtcctttcag
     2041 actgtgtcag ctctgcacag ggaaaatctg aacaagctga tgaccaactt gcgctccacc
     2101 catccccact ttgtacgttg tatcatccct aatgagacaa agtctccagg ggtgatggac
     2161 aaccccctgg tcatgcacca gctgcgctgc aatggtgtgc tggagggcat ccgcatctgc
     2221 aggaaaggct tccccaaccg catcctctac ggggacttcc ggcagaggta tcgcatcctg
     2281 aacccagcgg ccatccctga gggacagttc attgatagca ggaagggggc agagaagctg
     2341 ctcagctccc tggacattga tcacaaccag tacaagtttg gccacaccaa ggtgttcttc
     2401 aaggccgggc tgctggggct gctggaggaa atgagggacg agaggctgag ccgcatcatc
     2461 acgcgtatcc aggcccagtc ccgaggtgtg ctcgccagaa tggagtacaa aaagctgctg
     2521 gaacgtagag actccctgct ggtaatccag tggaacattc gggccttcat gggggtcaag
     2581 aattggccct ggatgaagct ctacttcaag atcaagccgc tgctgaagag tgcagaaaga
     2641 gagaaggaga tggcctccat gaaggaggag ttcacacgcc tcaaagaggc gctagagaag
     2701 tccgaggctc gccgcaagga gctggaggag aagatggtgt ccctgctgca ggagaagaat
     2761 gacctgcagc tccaagtgca ggcggaacaa gacaacctgg cagatgctga ggagcgctgt
     2821 gatcagctga tcaaaaacaa gattcagctg gaggccaagg tgaaggagat gaacgagagg
     2881 ctggaggatg aggaggagat gaatgctgag ctcactgcca agaagcgcaa gctggaagat
     2941 gagtgctcag agctcaaaag ggacatcgat gatctggagc tgacactggc caaagtggag
     3001 aaggagaaac acgcaacaga gaacaaggtg aaaaacctga cagaggagat ggctgggctg
     3061 gatgagatca ttgccaagct gaccaaggag aagaaagctc tgcaagaggc ccaccaacag
     3121 gctctggatg accttcaggc cgaggaggac aaggtcaaca ccctgactaa ggccaaagtc
     3181 aagctggagc agcaagtgga tgatctggaa ggatccctgg agcaagagaa gaaggtgcgc
     3241 atggacctgg agcgagcgaa gcggaagctg gagggcgacc tgaagctgac ccaggagagc
     3301 atcatggacc tggagaatga caagcagcag ctggatgagc ggctgaaaaa aaaagacttt
     3361 gagctgaatg ctctcaacgc aaggattgag gatgaacagg ccctcggcag ccagctgcag
     3421 aagaagctca aggagcttca ggcacgcatc gaggagctgg aggaggagct ggaggccgag
     3481 cgcaccgcca gggctaaggt ggagaagctg cgctcagacc tgtctcggga gctggaggag
     3541 atcagcgagc ggctggaaga ggccggcggg gccacgtccg tgcagatcga gatgaacaag
     3601 aagcgcgagg ccgagttcca gaagatgcgg cgggacctgg aggaggccac gctgcagcac
     3661 gaggccactg ccgcggccct gcgcaagaag cacgccgaca gcgtggccga gctgggcgag
     3721 cagatcgaca acctgcagcg ggtgaagcag aagctggaga aggagaagag cgagttcaag
     3781 ctggagctgg atgacgtcac ctccaacatg gagcagatca tcaaggccaa ggctaacctg
     3841 gagaagatgt gccggacctt ggaagaccag atgaatgagc accggagcaa ggcggaggag
     3901 acccagcgtt ctgtcaacga cctcaccagc cagcgggcca agttgcaaac cgagaatggt
     3961 gagctgtccc ggcagctgga tgagaaggag gcactgatct cccagctgac ccgaggcaag
     4021 ctcacctaca cccagcagct ggaggacctc aagaggcagc tggaggagga ggttaaggcg
     4081 aagaacgccc tggcccacgc actgcagtcg gcccggcatg actgcgacct gctgcgggag
     4141 cagtacgagg aggagacgga ggccaaggcc gagctgcagc gcgtcctttc caaggccaac
     4201 tcggaggtgg cccagtggag gaccaagtat gagacggacg ccattcagcg gactgaggag
     4261 ctcgaggagg ccaagaagaa gctggcccag cggctgcagg aagctgagga ggccgtggag
     4321 gctgttaatg ccaagtgctc ctcgctggag aagaccaagc accggctaca gaatgagatc
     4381 gaggacttga tggtggacgt agagcgctcc aatgctgctg ctgcagccct ggacaagaag
     4441 cagaggaact tcgacaagat cctggccgag tggaagcaga agtatgagga gtcgcagtcg
     4501 gagctggagt cctcgcagaa ggaggctcgc tccctcagca cagagctctt caaactcaag
     4561 aacgcctatg aggagtccct ggaacatctg gagaccttca agcgggagaa caaaaacctg
     4621 caggaggaga tctccgactt gactgagcag ttgggttcca gcggaaagac tatccatgag
     4681 ctggagaagg tccgaaagca gctggaggcc gagaagatgg agctgcagtc agccctggag
     4741 gaggccgagg cctccctgga gcacgaggag ggcaagatcc tccgggccca gctggagttc
     4801 aaccagatca aggcagagat cgagcggaag ctggcagaga aggacgagga gatggaacag
     4861 gccaagcgca accacctgcg ggtggtggac tcgctgcaga cctccctgga cgcagagaca
     4921 cgcagccgca acgaggccct gagggtgaag aagaagatgg aaggagacct caatgagatg
     4981 gagatccagc tcagccacgc caaccgcatg gccgccgagg cccagaagca agtcaagagc
     5041 ctccagagct tgttgaagga cacccagatt cagctggacg atgcagtccg tgccaacgac
     5101 gacctgaagg agaacatcgc catcgtggag cggcgcaaca acctgctgca ggctgagctg
     5161 gaggagttgc gtgccgtggt ggagcagaca gagcggtccc ggaagctggc ggagcaggag
     5221 ctgattgaga ctagtgagcg ggtgcagctg ctgcattccc agaacaccag cctcatcaac
     5281 cagaagaaga agatggatgc tgacctgtcc cagctccaga ctgaagtgga ggaggcagtg
     5341 caggagtgca ggaatgctga ggagaaggcc aagaaggcca tcacggatgc cgccatgatg
     5401 gcagaggagc tgaagaagga gcaggacacc agcgcccacc tggagcgcat gaagaagaac
     5461 atggaacaga ccattaagga cctgcagcac cggctggacg aagccgagca gatcgccctc
     5521 aagggcggca agaagcagct gcagaagctg gaagcgcggg tgcgggagct ggagaatgag
     5581 ctggaggccg agcagaagcg caacgcagag tcggtgaagg gcatgaggaa gagcgagcgg
     5641 cgcatcaagg agctcaccta ccagacggag gaggacagga aaaacctgct gcggctgcag
     5701 gacctggtag acaagctgca gctaaaggtc aaggcctaca agcgccaggc cgaggaggcg
     5761 gaggagcaag ccaacaccaa cctgtccaag ttccgcaagg tgcagcacga gctggatgag
     5821 gcagaggagc gggcggacat cgccgagtcc caggtcaaca agctgcgggc caagagccgt
     5881 gacattggca cgaagggctt gaatgaggag tagctttgcc acatcttgat ctgctcagcc
     5941 ctggaggtgc cagcaaagcc ccatgctgga gcctgtgtaa cagctccttg ggaggaagca
     6001 gaataaagca attttccttg aagccga
//
LOCUS       NM_000258                885 bp    mRNA    linear   PRI 17-MAR-2023
DEFINITION  Homo sapiens myosin light chain 3 (MYL3), transcript variant 1,
            mRNA.
ACCESSION   NM_000258
VERSION     NM_000258.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 885)
  AUTHORS   Yampolskaya DS, Kopylova GV, Shchepkin DV, Bershitsky SY,
            Matyushenko AM and Levitsky DI.
  TITLE     Properties of Cardiac Myosin with Cardiomyopathic Mutations in
            Essential Light Chains
  JOURNAL   Biochemistry (Mosc) 87 (11), 1260-1267 (2022)
   PUBMED   36509720
  REMARK    GeneRIF: Properties of Cardiac Myosin with Cardiomyopathic Mutations
            in Essential Light Chains.
REFERENCE   2  (bases 1 to 885)
  AUTHORS   Osborn DPS, Emrahi L, Clayton J, Tabrizi MT, Wan AYB, Maroofian R,
            Yazdchi M, Garcia MLE, Galehdari H, Hesse C, Shariati G, Mazaheri N,
            Sedaghat A, Goullee H, Laing N, Jamshidi Y and Tajsharghi H.
  TITLE     Autosomal recessive cardiomyopathy and sudden cardiac death
            associated with variants in MYL3
  JOURNAL   Genet Med 23 (4), 787-792 (2021)
   PUBMED   33288880
  REMARK    GeneRIF: Autosomal recessive cardiomyopathy and sudden cardiac death
            associated with variants in MYL3.
REFERENCE   3  (bases 1 to 885)
  AUTHORS   Rani DS, Nallari P, Rani J, Nizamuddin S, Seelamneni T, Narasimhan C
            and Thangaraj K.
  TITLE     A Complete Absence of Missense Mutation in Myosin Regulatory and
            Essential Light Chain Genes of South Indian Hypertrophic and Dilated
            Cardiomyopathies
  JOURNAL   Cardiology 141 (3), 156-166 (2018)
   PUBMED   30605904
  REMARK    GeneRIF: The study revealed a total of 10 variations - 7 in MYL2 and
            3 in MYL3, of which 3 are novel variations observed exclusively in
            cases. MYL2 and MYL3 mutations are rare and the least cause of
            cardiomyopathies in Indians.
REFERENCE   4  (bases 1 to 885)
  AUTHORS   Nomura A, Tada H, Teramoto R, Konno T, Hodatsu A, Won HH, Kathiresan
            S, Ino H, Fujino N, Yamagishi M and Hayashi K.
  TITLE     Whole exome sequencing combined with integrated variant annotation
            prediction identifies a causative myosin essential light chain
            variant in hypertrophic cardiomyopathy
  JOURNAL   J Cardiol 67 (2), 133-139 (2016)
   PUBMED   26443374
  REMARK    GeneRIF: In Familial Hypertrophic Cardiomyopathy, the MYL3 Arg94His
            variant was associated with high disease penetrance and substantial
            interventricular septal hypertrophy
REFERENCE   5  (bases 1 to 885)
  AUTHORS   Caleshu C, Sakhuja R, Nussbaum RL, Schiller NB, Ursell PC, Eng C, De
            Marco T, McGlothlin D, Burchard EG and Rame JE.
  TITLE     Furthering the link between the sarcomere and primary
            cardiomyopathies: restrictive cardiomyopathy associated with
            multiple mutations in genes previously associated with hypertrophic
            or dilated cardiomyopathy
  JOURNAL   Am J Med Genet A 155A (9), 2229-2235 (2011)
   PUBMED   21823217
  REMARK    GeneRIF: This is the first report of mutations in TPM1, MY L3, and
            MYL2 associated with primary, non-hypertrophied restrictive
            cardiomyopathy.
REFERENCE   6  (bases 1 to 885)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301725
REFERENCE   7  (bases 1 to 885)
  AUTHORS   Shi Q, Li RK, Mickle DA and Jackowski G.
  TITLE     Analysis of the upstream regulatory region of human ventricular
            myosin light chain 1 gene
  JOURNAL   J Mol Cell Cardiol 24 (11), 1221-1229 (1992)
   PUBMED   1479618
REFERENCE   8  (bases 1 to 885)
  AUTHORS   Fodor WL, Darras B, Seharaseyon J, Falkenthal S, Francke U and Vanin
            EF.
  TITLE     Human ventricular/slow twitch myosin alkali light chain gene
            characterization, sequence, and chromosomal location
  JOURNAL   J Biol Chem 264 (4), 2143-2149 (1989)
   PUBMED   2789520
REFERENCE   9  (bases 1 to 885)
  AUTHORS   Cohen-Haguenauer O, Barton PJ, Van Cong N, Cohen A, Masset M,
            Buckingham M and Frezal J.
  TITLE     Chromosomal assignment of two myosin alkali light-chain genes
            encoding the ventricular/slow skeletal muscle isoform and the
            atrial/fetal muscle isoform (MYL3, MYL4)
  JOURNAL   Hum Genet 81 (3), 278-282 (1989)
   PUBMED   2784124
REFERENCE   10  (bases 1 to 885)
  AUTHORS   Stragier P, Kunkel B, Kroos L and Losick R.
  TITLE     Chromosomal rearrangement generating a composite gene for a
            developmental transcription factor
  JOURNAL   Science 243 (4890), 507-512 (1989)
   PUBMED   2536191
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC009790.1, CF552959.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2154361,
            SAMN03267751 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000292327.6/ ENSP00000292327.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP316922.1 and AJ709328.1.
            On Aug 31, 2019 this sequence version replaced NM_000258.2.
            Summary: MYL3 encodes myosin light chain 3, an alkali light chain
            also referred to in the literature as both the ventricular isoform
            and the slow skeletal muscle isoform. Mutations in MYL3 have been
            identified as a cause of mid-left ventricular chamber type
            hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..885
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..885
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /note="myosin light chain 3"
                     /db_xref="GeneID:4634"
                     /db_xref="HGNC:HGNC:7584"
                     /db_xref="MIM:160790"
     CDS             55..642
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /note="isoform 1 is encoded by transcript variant 1;
                     myosin, light polypeptide 3, alkali; ventricular, skeletal,
                     slow; CMLC1; myosin, light chain 3, alkali; ventricular,
                     skeletal, slow; ventricular/slow twitch myosin alkali light
                     chain; ventricular myosin alkali light chain; ventricular
                     myosin light chain 1; cardiac myosin light chain 1"
                     /codon_start=1
                     /product="myosin light chain 3 isoform 1"
                     /protein_id="NP_000249.1"
                     /db_xref="CCDS:CCDS2746.1"
                     /db_xref="GeneID:4634"
                     /db_xref="HGNC:HGNC:7584"
                     /db_xref="MIM:160790"
                     /translation="MAPKKPEPKKDDAKAAPKAAPAPAPPPEPERPKEVEFDASKIKIE
                     FTPEQIEEFKEAFMLFDRTPKCEMKITYGQCGDVLRALGQNPTQAEVLRVLGKPRQEEL
                     NTKMMDFETFLPMLQHISKNKDTGTYEDFVEGLRVFDKEGNGTVMGAELRHVLATLGER
                     LTEDEVEKLMAGQEDSNGCINYEAFVKHIMSS"
     misc_feature    55..165
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /note="propagated from UniProtKB/Swiss-Prot (P08590.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    58..60
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /note="N,N,N-trimethylalanine.
                     /evidence=ECO:0000305|PubMed:3979397; propagated from
                     UniProtKB/Swiss-Prot (P08590.3); methylation site"
     misc_feature    316..318
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P16409; propagated from
                     UniProtKB/Swiss-Prot (P08590.3); phosphorylation site"
     misc_feature    433..435
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P09542; propagated from
                     UniProtKB/Swiss-Prot (P08590.3); phosphorylation site"
     misc_feature    439..441
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P16409; propagated from
                     UniProtKB/Swiss-Prot (P08590.3); phosphorylation site"
     misc_feature    442..444
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P16409; propagated from
                     UniProtKB/Swiss-Prot (P08590.3); phosphorylation site"
     misc_feature    589..591
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P09542; propagated from
                     UniProtKB/Swiss-Prot (P08590.3); phosphorylation site"
     regulatory      860..865
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /note="hexamer: AATAAA"
     polyA_site      885
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /note="major polyA site"
ORIGIN
        1 accctgcttt ctgcattctt ctctccacat ccctctctgt acttacagcc cccaatggcc
       61 cccaaaaagc cagagcccaa gaaggatgat gccaaggcag cccccaaggc agctccagct
      121 cccgcacctc cccctgagcc tgagcgccct aaggaggtcg agtttgatgc ttccaagatc
      181 aagattgagt tcacacctga gcagattgaa gagttcaagg aagccttcat gctgttcgac
      241 cgcacaccca agtgtgagat gaagatcacc tacgggcagt gtggggatgt cctgcgggcg
      301 ctgggccaga accccacaca ggcagaagtg ctccgtgtcc tggggaagcc aagacaggaa
      361 gagctcaata ccaagatgat ggactttgaa actttcctgc ctatgctcca gcacatttcc
      421 aagaacaagg acacaggcac ctatgaggac ttcgtggagg ggctgcgggt cttcgacaag
      481 gagggcaatg gcactgtcat gggtgctgag cttcgccacg tgctggccac gctgggtgag
      541 aggctgacag aagacgaagt ggagaagttg atggctgggc aagaggactc caatggctgc
      601 atcaactatg aagcatttgt gaagcacatc atgtccagct aaacctcgtg cccaggaagc
      661 ccagggaagg ctgtgcaggg acgtctcatc tcccatgtgt gatgctgaca ccagcggcct
      721 ggagtcgtgg gaaggagggg agccttacca agactcctgc aaaaaccctt ggacctctcc
      781 acgtggttgc cgtctctggc ccctctcagg ctgtgcttac ctgtgacagc agctctgtcc
      841 ccaccccatg ggcctcatga ataaatggct tcttgccggc cttcc
//
LOCUS       NM_000260               7483 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.
ACCESSION   NM_000260
VERSION     NM_000260.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7483)
  AUTHORS   Lin Q, Yang D, Shen Z and Zhou X.
  TITLE     New splice site mutations in MYO7A causing Usher syndrome type 1: a
            study on a Chinese consanguineous family
  JOURNAL   Int Ophthalmol 43 (6), 2091-2099 (2023)
   PUBMED   36484953
  REMARK    GeneRIF: New splice site mutations in MYO7A causing Usher syndrome
            type 1: a study on a Chinese consanguineous family.
REFERENCE   2  (bases 1 to 7483)
  AUTHORS   Kim YR, Kim HM, Lee B, Baek JI, Lee KY, Park HJ and Kim UK.
  TITLE     Identification of novel missense mutation related with non-syndromic
            sensorineural deafness, DFNA11 in korean family by NGS
  JOURNAL   Genes Genomics 45 (2), 225-230 (2023)
   PUBMED   36630074
  REMARK    GeneRIF: Identification of novel missense mutation related with
            non-syndromic sensorineural deafness, DFNA11 in korean family by
            NGS.
REFERENCE   3  (bases 1 to 7483)
  AUTHORS   Baux D, Faugere V, Larrieu L, Le Guedard-Mereuze S, Hamroun D,
            Beroud C, Malcolm S, Claustres M and Roux AF.
  TITLE     UMD-USHbases: a comprehensive set of databases to record and analyse
            pathogenic mutations and unclassified variants in seven Usher
            syndrome causing genes
  JOURNAL   Hum Mutat 29 (8), E76-E87 (2008)
   PUBMED   18484607
REFERENCE   4  (bases 1 to 7483)
  AUTHORS   Inoue A and Ikebe M.
  TITLE     Characterization of the motor activity of mammalian myosin VIIA
  JOURNAL   J Biol Chem 278 (7), 5478-5487 (2003)
   PUBMED   12466270
REFERENCE   5  (bases 1 to 7483)
  AUTHORS   Kelley PM, Weston MD, Chen ZY, Orten DJ, Hasson T, Overbeck LD,
            Pinnt J, Talmadge CB, Ing P, Mooseker MS, Corey D, Sumegi J and
            Kimberling WJ.
  TITLE     The genomic structure of the gene defective in Usher syndrome type
            Ib (MYO7A)
  JOURNAL   Genomics 40 (1), 73-79 (1997)
   PUBMED   9070921
REFERENCE   6  (bases 1 to 7483)
  AUTHORS   Chen ZY, Hasson T, Kelley PM, Schwender BJ, Schwartz MF,
            Ramakrishnan M, Kimberling WJ, Mooseker MS and Corey DP.
  TITLE     Molecular cloning and domain structure of human myosin-VIIa, the
            gene product defective in Usher syndrome 1B
  JOURNAL   Genomics 36 (3), 440-448 (1996)
   PUBMED   8884267
REFERENCE   7  (bases 1 to 7483)
  AUTHORS   Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP and Mooseker MS.
  TITLE     Expression in cochlea and retina of myosin VIIa, the gene product
            defective in Usher syndrome type 1B
  JOURNAL   Proc Natl Acad Sci U S A 92 (21), 9815-9819 (1995)
   PUBMED   7568224
REFERENCE   8  (bases 1 to 7483)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Schaefer,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301607
REFERENCE   9  (bases 1 to 7483)
  AUTHORS   Koenekoop,R.K., Arriaga,M.A., Trzupek,K.M. and Lentz,J.J.
  TITLE     Usher Syndrome Type I
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301442
REFERENCE   10  (bases 1 to 7483)
  AUTHORS   Kimberling WJ, Moller CG, Davenport S, Priluck IA, Beighton PH,
            Greenberg J, Reardon W, Weston MD, Kenyon JB, Grunkemeyer JA et al.
  TITLE     Linkage of Usher syndrome type I gene (USH1B) to the long arm of
            chromosome 11
  JOURNAL   Genomics 14 (4), 988-994 (1992)
   PUBMED   1478677
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U39226.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145245 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000409709.9/ ENSP00000386331.3
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000752.4, U39226.1, U34227.1,
            U55208.1 and BG108466.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000260.3.
            Summary: This gene is a member of the myosin gene family. Myosins
            are mechanochemical proteins characterized by the presence of a
            motor domain, an actin-binding domain, a neck domain that interacts
            with other proteins, and a tail domain that serves as an anchor.
            This gene encodes an unconventional myosin with a very short tail.
            Defects in this gene are associated with the mouse shaker-1
            phenotype and the human Usher syndrome 1B which are characterized
            by deafness, reduced vestibular function, and (in human) retinal
            degeneration. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: The update from NM_00260.1 to NM_00260.2 was
            intended to only modify select nucleotide residues that did not
            match the reference genome; however, the update mistakenly
            represented use of an alternate splice donor and splice acceptor
            site.  NM_00260.2 was subsequently updated to version 3 to
            represent the original exon and splice site combination. The
            difference between NM_000260.1 and NM_000260.3 involve single
            residue changes to match the reference genome.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7483
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.5"
     gene            1..7483
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B"
                     /note="myosin VIIA"
                     /db_xref="GeneID:4647"
                     /db_xref="HGNC:HGNC:7606"
                     /db_xref="MIM:276903"
     misc_feature    279..281
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B"
                     /note="upstream in-frame stop codon"
     CDS             291..6938
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B"
                     /note="isoform 1 is encoded by transcript variant 1; myosin
                     VIIA (Usher syndrome 1B (autosomal recessive, severe));
                     unconventional myosin-VIIa"
                     /codon_start=1
                     /product="unconventional myosin-VIIa isoform 1"
                     /protein_id="NP_000251.3"
                     /db_xref="CCDS:CCDS53683.1"
                     /db_xref="GeneID:4647"
                     /db_xref="HGNC:HGNC:7606"
                     /db_xref="MIM:276903"
                     /translation="MVILQQGDHVWMDLRLGQEFDVPIGAVVKLCDSGQVQVVDDEDNE
                     HWISPQNATHIKPMHPTSVHGVEDMIRLGDLNEAGILRNLLIRYRDHLIYTYTGSILVA
                     VNPYQLLSIYSPEHIRQYTNKKIGEMPPHIFAIADNCYFNMKRNSRDQCCIISGESGAG
                     KTESTKLILQFLAAISGQHSWIEQQVLEATPILEAFGNAKTIRNDNSSRFGKYIDIHFN
                     KRGAIEGAKIEQYLLEKSRVCRQALDERNYHVFYCMLEGMSEDQKKKLGLGQASDYNYL
                     AMGNCITCEGRVDSQEYANIRSAMKVLMFTDTENWEISKLLAAILHLGNLQYEARTFEN
                     LDACEVLFSPSLATAASLLEVNPPDLMSCLTSRTLITRGETVSTPLSREQALDVRDAFV
                     KGIYGRLFVWIVDKINAAIYKPPSQDVKNSRRSIGLLDIFGFENFAVNSFEQLCINFAN
                     EHLQQFFVRHVFKLEQEEYDLESIDWLHIEFTDNQDALDMIANKPMNIISLIDEESKFP
                     KGTDTTMLHKLNSQHKLNANYIPPKNNHETQFGINHFAGIVYYETQGFLEKNRDTLHGD
                     IIQLVHSSRNKFIKQIFQADVAMGAETRKRSPTLSSQFKRSLELLMRTLGACQPFFVRC
                     IKPNEFKKPMLFDRHLCVRQLRYSGMMETIRIRRAGYPIRYSFVEFVERYRVLLPGVKP
                     AYKQGDLRGTCQRMAEAVLGTHDDWQIGKTKIFLKDHHDMLLEVERDKAITDRVILLQK
                     VIRGFKDRSNFLKLKNAATLIQRHWRGHNCRKNYGLMRLGFLRLQALHRSRKLHQQYRL
                     ARQRIIQFQARCRAYLVRKAFRHRLWAVLTVQAYARGMIARRLHQRLRAEYLWRLEAEK
                     MRLAEEEKLRKEMSAKKAKEEAERKHQERLAQLAREDAERELKEKEAARRKKELLEQME
                     RARHEPVNHSDMVDKMFGFLGTSGGLPGQEGQAPSGFEDLERGRREMVEEDLDAALPLP
                     DEDEEDLSEYKFAKFAATYFQGTTTHSYTRRPLKQPLLYHDDEGDQLAALAVWITILRF
                     MGDLPEPKYHTAMSDGSEKIPVMTKIYETLGKKTYKRELQALQGEGEAQLPEGQKKSSV
                     RHKLVHLTLKKKSKLTEEVTKRLHDGESTVQGNSMLEDRPTSNLEKLHFIIGNGILRPA
                     LRDEIYCQISKQLTHNPSKSSYARGWILVSLCVGCFAPSEKFVKYLRNFIHGGPPGYAP
                     YCEERLRRTFVNGTRTQPPSWLELQATKSKKPIMLPVTFMDGTTKTLLTDSATTAKELC
                     NALADKISLKDRFGFSLYIALFDKVSSLGSGSDHVMDAISQCEQYAKEQGAQERNAPWR
                     LFFRKEVFTPWHSPSEDNVATNLIYQQVVRGVKFGEYRCEKEDDLAELASQQYFVDYGS
                     EMILERLLNLVPTYIPDREITPLKTLEKWAQLAIAAHKKGIYAQRRTDAQKVKEDVVSY
                     ARFKWPLLFSRFYEAYKFSGPSLPKNDVIVAVNWTGVYFVDEQEQVLLELSFPEIMAVS
                     SSRECRVWLSLGCSDLGCAAPHSGWAGLTPAGPCSPCWSCRGAKTTAPSFTLATIKGDE
                     YTFTSSNAEDIRDLVVTFLEGLRKRSKYVVALQDNPNPAGEESGFLSFAKGDLIILDHD
                     TGEQVMNSGWANGINERTKQRGDFPTDSVYVMPTVTMPPREIVALVTMTPDQRQDVVRL
                     LQLRTAEPEVRAKPYTLEEFSYDYFRPPPKHTLSRVMVSKARGKDRLWSHTREPLKQAL
                     LKKLLGSEELSQEACLAFIAVLKYMGDYPSKRTRSVNELTDQIFEGPLKAEPLKDEAYV
                     QILKQLTDNHIRYSEERGWELLWLCTGLFPPSNILLPHVQRFLQSRKHCPLAIDCLQRL
                     QKALRNGSRKYPPHLVEVEAIQHKTTQIFHKVYFPDDTDEAFEVESSTKAKDFCQNIAT
                     RLLLKSSEGFSLFVKIADKVLSVPENDFFFDFVRHLTDWIKKARPIKDGIVPSLTYQVF
                     FMKKLWTTTVPGKDPMADSIFHYYQELPKYLRGYHKCTREEVLQLGALIYRVKFEEDKS
                     YFPSIPKLLRELVPQDLIRQVSPDDWKRSIVAYFNKHAGKSKEEAKLAFLKLIFKWPTF
                     GSAFFEVKQTTEPNFPEILLIAINKYGVSLIDPKTKDILTTHPFTKISNWSSGNTYFHI
                     TIGNLVRGSKLLCETSLGYKMDDLLTSYISQMLTAMSKQRGSRSGK"
     misc_feature    2184..2207
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13402.2);
                     Region: Actin-binding. /evidence=ECO:0000305"
     misc_feature    2862..3095
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13402.2);
                     Region: SAH. /evidence=ECO:0000305|PubMed:25122759"
     misc_feature    4995..4997
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97479; propagated from
                     UniProtKB/Swiss-Prot (Q13402.2); phosphorylation site"
     misc_feature    5001..5003
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P97479; propagated from
                     UniProtKB/Swiss-Prot (Q13402.2); phosphorylation site"
     misc_feature    5532..5864
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B"
                     /note="encodes MyTH4 domain"
     regulatory      7458..7463
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B"
                     /note="hexamer: CATAAA"
     polyA_site      7483
                     /gene="MYO7A"
                     /gene_synonym="DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B"
                     /note="major polyA site"
ORIGIN
        1 agtgctggct ggacagctgc tctgggcagg agagagaggg agagacaaga gacacacaca
       61 gagagacggc gaggaaggga aagacccaga gggacgccta gaacgagact tggagccaga
      121 cagaggaaga ggggacgtgt gtttgcagac tggctgggcc cgtgacccag cttcctgagt
      181 cctccgtgca ggtggcagct gtaccaggct ggcaggtcac tgagagtggg cagctgggcc
      241 ccagaactgt gcctggccca gtgggcagca ggagctcctg acttgggacc atggtgattc
      301 ttcagcaggg ggaccatgtg tggatggacc tgagattggg gcaggagttc gacgtgccca
      361 tcggggcggt ggtgaagctc tgcgactctg ggcaggtcca ggtggtggat gatgaagaca
      421 atgaacactg gatctctccg cagaacgcaa cgcacatcaa gcctatgcac cccacgtcgg
      481 tccacggcgt ggaggacatg atccgcctgg gggacctcaa cgaggcgggc atcttgcgca
      541 acctgcttat ccgctaccgg gaccacctca tctacacgta tacgggctcc atcctggtgg
      601 ctgtgaaccc ctaccagctg ctctccatct actcgccaga gcacatccgc cagtatacca
      661 acaagaagat tggggagatg cccccccaca tctttgccat tgctgacaac tgctacttca
      721 acatgaaacg caacagccga gaccagtgct gcatcatcag tggggaatct ggggccggga
      781 agacggagag cacaaagctg atcctgcagt tcctggcagc catcagtggg cagcactcgt
      841 ggattgagca gcaggtcttg gaggccaccc ccattctgga agcatttggg aatgccaaga
      901 ccatccgcaa tgacaactca agccgtttcg gaaagtacat cgacatccac ttcaacaagc
      961 ggggcgccat cgagggcgcg aagattgagc agtacctgct ggaaaagtca cgtgtctgtc
     1021 gccaggccct ggatgaaagg aactaccacg tgttctactg catgctggag ggtatgagtg
     1081 aggatcagaa gaagaagctg ggcttgggcc aggcctctga ctacaactac ttggccatgg
     1141 gtaactgcat aacctgtgag ggccgggtgg acagccagga gtacgccaac atccgctccg
     1201 ccatgaaggt gctcatgttc actgacaccg agaactggga gatctcgaag ctcctggctg
     1261 ccatcctgca cctgggcaac ctgcagtatg aggcacgcac atttgaaaac ctggatgcct
     1321 gtgaggttct cttctcccca tcgctggcca cagctgcatc cctgcttgag gtgaaccccc
     1381 cagacctgat gagctgcctg actagccgca ccctcatcac ccgcggggag acggtgtcca
     1441 ccccactgag cagggaacag gcactggacg tgcgcgacgc cttcgtaaag gggatctacg
     1501 ggcggctgtt cgtgtggatt gtggacaaga tcaacgcagc aatttacaag cctccctccc
     1561 aggatgtgaa gaactctcgc aggtccatcg gcctcctgga catctttggg tttgagaact
     1621 ttgctgtgaa cagctttgag cagctctgca tcaacttcgc caatgagcac ctgcagcagt
     1681 tctttgtgcg gcacgtgttc aagctggagc aggaggaata tgacctggag agcattgact
     1741 ggctgcacat cgagttcact gacaaccagg atgccctgga catgattgcc aacaagccca
     1801 tgaacatcat ctccctcatc gatgaggaga gcaagttccc caagggcaca gacaccacca
     1861 tgttacacaa gctgaactcc cagcacaagc tcaacgccaa ctacatcccc cccaagaaca
     1921 accatgagac ccagtttggc atcaaccatt ttgcaggcat cgtctactat gagacccaag
     1981 gcttcctgga gaagaaccga gacaccctgc atggggacat tatccagctg gtccactcct
     2041 ccaggaacaa gttcatcaag cagatcttcc aggccgatgt cgccatgggc gccgagacca
     2101 ggaagcgctc gcccacactt agcagccagt tcaagcggtc actggagctg ctgatgcgca
     2161 cgctgggtgc ctgccagccc ttctttgtgc gatgcatcaa gcccaatgag ttcaagaagc
     2221 ccatgctgtt cgaccggcac ctgtgcgtgc gccagctgcg gtactcagga atgatggaga
     2281 ccatccgaat ccgccgagct ggctacccca tccgctacag cttcgtagag tttgtggagc
     2341 ggtaccgtgt gctgctgcca ggtgtgaagc cggcctacaa gcagggcgac ctccgcggga
     2401 cttgccagcg catggctgag gctgtgctgg gcacccacga tgactggcag ataggcaaaa
     2461 ccaagatctt tctgaaggac caccatgaca tgctgctgga agtggagcgg gacaaagcca
     2521 tcaccgacag agtcatcctc cttcagaaag tcatccgggg attcaaagac aggtctaact
     2581 ttctgaagct gaagaacgct gccacactga tccagaggca ctggcggggt cacaactgta
     2641 ggaagaacta cgggctgatg cgtctgggct tcctgcggct gcaggccctg caccgctccc
     2701 ggaagctgca ccagcagtac cgcctggccc gccagcgcat catccagttc caggcccgct
     2761 gccgcgccta tctggtgcgc aaggccttcc gccaccgcct ctgggctgtg ctcaccgtgc
     2821 aggcctatgc ccggggcatg atcgcccgca ggctgcacca acgcctcagg gctgagtatc
     2881 tgtggcgcct cgaggctgag aaaatgcggc tggcggagga agagaagctt cggaaggaga
     2941 tgagcgccaa gaaggccaag gaggaggccg agcgcaagca tcaggagcgc ctggcccagc
     3001 tggctcgtga ggacgctgag cgggagctga aggagaagga ggccgctcgg cggaagaagg
     3061 agctcctgga gcagatggaa agggcccgcc atgagcctgt caatcactca gacatggtgg
     3121 acaagatgtt tggcttcctg gggacttcag gtggcctgcc aggccaggag ggccaggcac
     3181 ctagtggctt tgaggacctg gagcgagggc ggagggagat ggtggaggag gacctggatg
     3241 cagccctgcc cctgcctgac gaggatgagg aggacctctc tgagtataaa tttgccaagt
     3301 tcgcggccac ctacttccag gggacaacca cgcactccta cacccggcgg ccactcaaac
     3361 agccactgct ctaccatgac gacgagggtg accagctggc agccctggcg gtctggatca
     3421 ccatcctccg cttcatgggg gacctccctg agcccaagta ccacacagcc atgagtgatg
     3481 gcagtgagaa gatccctgtg atgaccaaga tttatgagac cctgggcaag aagacgtaca
     3541 agagggagct gcaggccctg cagggcgagg gcgaggccca gctccccgag ggccagaaga
     3601 agagcagtgt gaggcacaag ctggtgcatt tgactctgaa aaagaagtcc aagctcacag
     3661 aggaggtgac caagaggctg catgacgggg agtccacagt gcagggcaac agcatgctgg
     3721 aggaccggcc cacctccaac ctggagaagc tgcacttcat catcggcaat ggcatcctgc
     3781 ggccagcact ccgggacgag atctactgcc agatcagcaa gcagctgacc cacaacccct
     3841 ccaagagcag ctatgcccgg ggctggattc tcgtgtctct ctgcgtgggc tgtttcgccc
     3901 cctccgagaa gtttgtcaag tacctgcgga acttcatcca cgggggcccg cccggctacg
     3961 ccccgtactg tgaggagcgc ctgagaagga cctttgtcaa tgggacacgg acacagccgc
     4021 ccagctggct ggagctgcag gccaccaagt ccaagaagcc aatcatgttg cccgtgacat
     4081 tcatggatgg gaccaccaag accctgctga cggactcggc aaccacggcc aaggagctct
     4141 gcaacgcgct ggccgacaag atctctctca aggaccggtt cgggttctcc ctctacattg
     4201 ccctgtttga caaggtgtcc tccctgggca gcggcagtga ccacgtcatg gacgccatct
     4261 cccagtgcga gcagtacgcc aaggagcagg gcgcccagga gcgcaacgcc ccctggaggc
     4321 tcttcttccg caaagaggtc ttcacgccct ggcacagccc ctccgaggac aacgtggcca
     4381 ccaacctcat ctaccagcag gtggtgcgag gagtcaagtt tggggagtac aggtgtgaga
     4441 aggaggacga cctggctgag ctggcctccc agcagtactt tgtagactat ggctctgaga
     4501 tgatcctgga gcgcctcctg aacctcgtgc ccacctacat ccccgaccgc gagatcacgc
     4561 ccctgaagac gctggagaag tgggcccagc tggccatcgc cgcccacaag aaggggattt
     4621 atgcccagag gagaactgat gcccagaagg tcaaagagga tgtggtcagt tatgcccgct
     4681 tcaagtggcc cttgctcttc tccaggtttt atgaagccta caaattctca ggccccagtc
     4741 tccccaagaa cgacgtcatc gtggccgtca actggacggg tgtgtacttt gtggatgagc
     4801 aggagcaggt acttctggag ctgtccttcc cagagatcat ggccgtgtcc agcagcaggg
     4861 agtgccgtgt ctggctctca ctgggctgct ctgatcttgg ctgtgctgcg cctcactcag
     4921 gctgggcagg actgaccccg gcggggccct gttctccgtg ttggtcctgc aggggagcga
     4981 aaacgacggc ccccagcttc acgctggcca ccatcaaggg ggacgaatac accttcacct
     5041 ccagcaatgc tgaggacatt cgtgacctgg tggtcacctt cctagagggg ctccggaaga
     5101 gatctaagta tgttgtggcc ctgcaggata accccaaccc cgcaggcgag gagtcaggct
     5161 tcctcagctt tgccaaggga gacctcatca tcctggacca tgacacgggc gagcaggtca
     5221 tgaactcggg ctgggccaac ggcatcaatg agaggaccaa gcagcgtggg gacttcccca
     5281 ccgacagtgt gtacgtcatg cccactgtca ccatgccacc gcgggagatt gtggccctgg
     5341 tcaccatgac tcccgatcag aggcaggacg ttgtccggct cttgcagctg cgaacggcgg
     5401 agcccgaggt gcgtgccaag ccctacacgc tggaggagtt ttcctatgac tacttcaggc
     5461 ccccacccaa gcacacgctg agccgtgtca tggtgtccaa ggcccgaggc aaggaccggc
     5521 tgtggagcca cacgcgggaa ccgctcaagc aggcgctgct caagaagctc ctgggcagtg
     5581 aggagctctc gcaggaggcc tgcctggcct tcattgctgt gctcaagtac atgggcgact
     5641 acccgtccaa gaggacacgc tccgtcaacg agctcaccga ccagatcttt gagggtcccc
     5701 tgaaagccga gcccctgaag gacgaggcat atgtgcagat cctgaagcag ctgaccgaca
     5761 accacatcag gtacagcgag gagcggggtt gggagctgct ctggctgtgc acgggccttt
     5821 tcccacccag caacatcctc ctgccccacg tgcagcgctt cctgcagtcc cgaaagcact
     5881 gcccactcgc catcgactgc ctgcaacggc tccagaaagc cctgagaaac gggtcccgga
     5941 agtaccctcc gcacctggtg gaggtggagg ccatccagca caagaccacc cagattttcc
     6001 acaaagtcta cttccctgat gacactgacg aggccttcga agtggagtcc agcaccaagg
     6061 ccaaggactt ctgccagaac atcgccacca ggctgctcct caagtcctca gagggattca
     6121 gcctctttgt caaaattgca gacaaggtcc tcagcgttcc tgagaatgac ttcttctttg
     6181 actttgttcg acacttgaca gactggataa agaaagctcg gcccatcaag gacggaattg
     6241 tgccctcact cacctaccag gtgttcttca tgaagaagct gtggaccacc acggtgccag
     6301 ggaaggatcc catggccgat tccatcttcc actattacca ggagttgccc aagtatctcc
     6361 gaggctacca caagtgcacg cgggaggagg tgctgcagct gggggcgctg atctacaggg
     6421 tcaagttcga ggaggacaag tcctacttcc ccagcatccc caagctgctg cgggagctgg
     6481 tgccccagga ccttatccgg caggtctcac ctgatgactg gaagcggtcc atcgtcgcct
     6541 acttcaacaa gcacgcaggg aagtccaagg aggaggccaa gctggccttc ctgaagctca
     6601 tcttcaagtg gcccaccttt ggctcagcct tcttcgaggt gaagcaaact acggagccaa
     6661 acttccctga gatcctccta attgccatca acaagtatgg ggtcagcctc atcgatccca
     6721 aaacgaagga tatcctcacc actcatccct tcaccaagat ctccaactgg agcagcggca
     6781 acacctactt ccacatcacc attgggaact tggtgcgcgg gagcaaactg ctctgcgaga
     6841 cgtcactggg ctacaagatg gatgacctcc tgacttccta cattagccag atgctcacag
     6901 ccatgagcaa acagcggggc tccaggagcg gcaagtgaac agtcacgggg aggtgctggt
     6961 tccatgcctg ctctcgaggc agcagtgggt tcaggcccat cagctacccc tgcagctggg
     7021 gaagacttat gccatcccgg cagcgaggct gggctggcca gccaccactg actataccaa
     7081 ctgggcctct gatgttcttc cagtgaggca tctctctggg atgcagaact tccctccatc
     7141 cacccctctg gcacctgggt tggtctaatc ctagtttgct gtggccttcc cggttgtgag
     7201 agcctgtgat ccttagatgt gtctcctgtt tcagaccagc cccaccatgc aacttccttt
     7261 gactttctgt gtaccactgg gatagaggaa tcaagaggac aatctagctc tccatacttt
     7321 gaacaaccaa atgtgcattg aatactctga aaccgaaggg actggatctg caggtgggat
     7381 gagggagaca gaccactttt ctatattgca gtgtgaatgc tgggcccctg ctcaagtcta
     7441 ccctgatcac ctcagggcat aaagcatgtt tcattctctg gcc
//
LOCUS       NM_000261               2100 bp    mRNA    linear   PRI 17-JUL-2023
DEFINITION  Homo sapiens myocilin (MYOC), mRNA.
ACCESSION   NM_000261
VERSION     NM_000261.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2100)
  AUTHORS   Saccuzzo EG, Youngblood HA and Lieberman RL.
  TITLE     Myocilin misfolding and glaucoma: A 20-year update
  JOURNAL   Prog Retin Eye Res 95, 101188 (2023)
   PUBMED   37217093
  REMARK    GeneRIF: Myocilin misfolding and glaucoma: A 20-year update. Review
            article
REFERENCE   2  (bases 1 to 2100)
  AUTHORS   Cheng Y, Wu S, Yan X, Liu Q, Lin D, Zhang J and Wang N.
  TITLE     Human Pro370Leu Mutant Myocilin Induces the Phenotype of Open-Angle
            Glaucoma in Transgenic Mice
  JOURNAL   Cell Mol Neurobiol 43 (5), 2021-2033 (2023)
   PUBMED   36069958
  REMARK    GeneRIF: Human Pro370Leu Mutant Myocilin Induces the Phenotype of
            Open-Angle Glaucoma in Transgenic Mice.
REFERENCE   3  (bases 1 to 2100)
  AUTHORS   Abdul Majeed S, Dunzendorfer H, Weiner J, Heiker JT, Kiess W, Korner
            A and Landgraf K.
  TITLE     COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue
            Development Associated with Obesity-Related Metabolic Dysfunction in
            Children
  JOURNAL   Int J Mol Sci 24 (4), 3085 (2023)
   PUBMED   36834493
  REMARK    GeneRIF: COBL, MKX and MYOC Are Potential Regulators of Brown
            Adipose Tissue Development Associated with Obesity-Related Metabolic
            Dysfunction in Children. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2100)
  AUTHORS   Xie JJ, Zhang GW, Cui HY, Li N, Liu XX, Hao MY, Wang SW and Lu H.
  TITLE     Penetrance of MYOC gene mutation in primary open-angle glaucoma: A
            systematic review and meta-analysis
  JOURNAL   Ophthalmic Genet 43 (2), 240-247 (2022)
   PUBMED   35014583
  REMARK    GeneRIF: Penetrance of MYOC gene mutation in primary open-angle
            glaucoma: A systematic review and meta-analysis.
REFERENCE   5  (bases 1 to 2100)
  AUTHORS   Tanji T, Cohen E, Shen D, Zhang C, Yu F, Coleman AL and Zheng JJ.
  TITLE     Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients:
            Associations with Polymorphisms in Protein Stabilities
  JOURNAL   Genes (Basel) 12 (11), 1802 (2021)
   PUBMED   34828408
  REMARK    GeneRIF: Age at Glaucoma Diagnosis in Germline Myocilin Mutation
            Patients: Associations with Polymorphisms in Protein Stabilities.
            Review article Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2100)
  AUTHORS   Kubota R, Noda S, Wang Y, Minoshima S, Asakawa S, Kudoh J, Mashima
            Y, Oguchi Y and Shimizu N.
  TITLE     A novel myosin-like protein (myocilin) expressed in the connecting
            cilium of the photoreceptor: molecular cloning, tissue expression,
            and chromosomal mapping
  JOURNAL   Genomics 41 (3), 360-369 (1997)
   PUBMED   9169133
REFERENCE   7  (bases 1 to 2100)
  AUTHORS   Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL,
            Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R,
            Kalenak JW, Craven ER and Sheffield VC.
  TITLE     Identification of a gene that causes primary open angle glaucoma
  JOURNAL   Science 275 (5300), 668-670 (1997)
   PUBMED   9005853
REFERENCE   8  (bases 1 to 2100)
  AUTHORS   Escribano J, Ortego J and Coca-Prados M.
  TITLE     Isolation and characterization of cell-specific cDNA clones from a
            subtractive library of the ocular ciliary body of a single normal
            human donor: transcription and synthesis of plasma proteins
  JOURNAL   J Biochem 118 (5), 921-931 (1995)
   PUBMED   8749308
REFERENCE   9  (bases 1 to 2100)
  AUTHORS   Richards JE, Lichter PR, Boehnke M, Uro JL, Torrez D, Wong D and
            Johnson AT.
  TITLE     Mapping of a gene for autosomal dominant juvenile-onset open-angle
            glaucoma to chromosome Iq
  JOURNAL   Am J Hum Genet 54 (1), 62-70 (1994)
   PUBMED   8279471
REFERENCE   10  (bases 1 to 2100)
  AUTHORS   Sheffield VC, Stone EM, Alward WL, Drack AV, Johnson AT, Streb LM
            and Nichols BE.
  TITLE     Genetic linkage of familial open angle glaucoma to chromosome
            1q21-q31
  JOURNAL   Nat Genet 4 (1), 47-50 (1993)
   PUBMED   8513321
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.323867.1, U85257.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000037502.11/ ENSP00000037502.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z98750.1 and AF001620.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000261.1.
            Summary: MYOC encodes the protein myocilin, which is believed to
            have a role in cytoskeletal function. MYOC is expressed in many
            occular tissues, including the trabecular meshwork, and was
            revealed to be the trabecular meshwork glucocorticoid-inducible
            response protein (TIGR). The trabecular meshwork is a specialized
            eye tissue essential in regulating intraocular pressure, and
            mutations in MYOC have been identified as the cause of hereditary
            juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2100
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.3"
     gene            1..2100
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /note="myocilin"
                     /db_xref="GeneID:4653"
                     /db_xref="HGNC:HGNC:7610"
                     /db_xref="MIM:601652"
     CDS             78..1592
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /note="mutated trabecular meshwork-induced glucocorticoid
                     response protein; myocilin 55 kDa subunit; myocilin
                     trabecular meshwork inducible glucocorticoid response
                     protein; juvenile-onset open-angle glaucoma 1; myocilin
                     protein"
                     /codon_start=1
                     /product="myocilin precursor"
                     /protein_id="NP_000252.1"
                     /db_xref="CCDS:CCDS1297.1"
                     /db_xref="GeneID:4653"
                     /db_xref="HGNC:HGNC:7610"
                     /db_xref="MIM:601652"
                     /translation="MRFFCARCCSFGPEMPAVQLLLLACLVWDVGARTAQLRKANDQSG
                     RCQYTFSVASPNESSCPEQSQAMSVIHNLQRDSSTQRLDLEATKARLSSLESLLHQLTL
                     DQAARPQETQEGLQRELGTLRRERDQLETQTRELETAYSNLLRDKSVLEEEKKRLRQEN
                     ENLARRLESSSQEVARLRRGQCPQTRDTARAVPPGSREVSTWNLDTLAFQELKSELTEV
                     PASRILKESPSGYLRSGEGDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPYT
                     QETTWRIDTVGTDVRQVFEYDLISQFMQGYPSKVHILPRPLESTGAVVYSGSLYFQGAE
                     SRTVIRYELNTETVKAEKEIPGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKG
                     AIVLSKLNPENLELEQTWETNIRKQSVANAFIICGTLYTVSSYTSADATVNFAYDTGTG
                     ISKTLTIPFKNRYKYSSMIDYNPLEKKLFAWDNLNMVTYDIKLSKM"
     sig_peptide     78..173
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    246..248
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305|PubMed:17650508; propagated from
                     UniProtKB/Swiss-Prot (Q99972.2); glycosylation site"
     misc_feature    393..470
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99972.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    585..677
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99972.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    753..758
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /note="Cleavage, by CAPN2; propagated from
                     UniProtKB/Swiss-Prot (Q99972.2); cleavage site"
     misc_feature    1581..1589
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99972.2);
                     Region: Microbody targeting signal. /evidence=ECO:0000255"
     regulatory      2081..2086
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /note="hexamer: AATAAA"
     polyA_site      2100
                     /gene="MYOC"
                     /gene_synonym="GLC1A; GPOA; JOAG; JOAG1; TIGR"
                     /note="major polyA site"
ORIGIN
        1 gagccagcaa ggccacccat ccaggcacct ctcagcacag cagagctttc cagaggaagc
       61 ctcaccaagc ctctgcaatg aggttcttct gtgcacgttg ctgcagcttt gggcctgaga
      121 tgccagctgt ccagctgctg cttctggcct gcctggtgtg ggatgtgggg gccaggacag
      181 ctcagctcag gaaggccaat gaccagagtg gccgatgcca gtataccttc agtgtggcca
      241 gtcccaatga atccagctgc ccagagcaga gccaggccat gtcagtcatc cataacttac
      301 agagagacag cagcacccaa cgcttagacc tggaggccac caaagctcga ctcagctccc
      361 tggagagcct cctccaccaa ttgaccttgg accaggctgc caggccccag gagacccagg
      421 aggggctgca gagggagctg ggcaccctga ggcgggagcg ggaccagctg gaaacccaaa
      481 ccagagagtt ggagactgcc tacagcaacc tcctccgaga caagtcagtt ctggaggaag
      541 agaagaagcg actaaggcaa gaaaatgaga atctggccag gaggttggaa agcagcagcc
      601 aggaggtagc aaggctgaga aggggccagt gtccccagac ccgagacact gctcgggctg
      661 tgccaccagg ctccagagaa gtttctacgt ggaatttgga cactttggcc ttccaggaac
      721 tgaagtccga gctaactgaa gttcctgctt cccgaatttt gaaggagagc ccatctggct
      781 atctcaggag tggagaggga gacaccggat gtggagaact agtttgggta ggagagcctc
      841 tcacgctgag aacagcagaa acaattactg gcaagtatgg tgtgtggatg cgagacccca
      901 agcccaccta cccctacacc caggagacca cgtggagaat cgacacagtt ggcacggatg
      961 tccgccaggt ttttgagtat gacctcatca gccagtttat gcagggctac ccttctaagg
     1021 ttcacatact gcctaggcca ctggaaagca cgggtgctgt ggtgtactcg gggagcctct
     1081 atttccaggg cgctgagtcc agaactgtca taagatatga gctgaatacc gagacagtga
     1141 aggctgagaa ggaaatccct ggagctggct accacggaca gttcccgtat tcttggggtg
     1201 gctacacgga cattgacttg gctgtggatg aagcaggcct ctgggtcatt tacagcaccg
     1261 atgaggccaa aggtgccatt gtcctctcca aactgaaccc agagaatctg gaactcgaac
     1321 aaacctggga gacaaacatc cgtaagcagt cagtcgccaa tgccttcatc atctgtggca
     1381 ccttgtacac cgtcagcagc tacacctcag cagatgctac cgtcaacttt gcttatgaca
     1441 caggcacagg tatcagcaag accctgacca tcccattcaa gaaccgctat aagtacagca
     1501 gcatgattga ctacaacccc ctggagaaga agctctttgc ctgggacaac ttgaacatgg
     1561 tcacttatga catcaagctc tccaagatgt gaaaagcctc caagctgtac aggcaatggc
     1621 agaaggagat gctcagggct cctgggggga gcaggctgaa gggagagcca gccagccagg
     1681 gcccaggcag ctttgactgc tttccaagtt ttcattaatc cagaaggatg aacatggtca
     1741 ccatctaact attcaggaat tgtagtctga gggcgtagac aatttcatat aataaatatc
     1801 ctttatcttc tgtcagcatt tatgggatgt ttaatgacat agttcaagtt ttcttgtgat
     1861 ttggggcaaa agctgtaagg cataatagtt tcttcctgaa aaccattgct cttgcatgtt
     1921 acatggttac cacaagccac aataaaaagc ataacttcta aaggaagcag aatagctcct
     1981 ctggccagca tcgaatataa gtaagatgca tttactacag ttggcttcta atgcttcaga
     2041 tagaatacag ttgggtctca cataaccctt tacattgtga aataaaattt tcttacccaa
//
LOCUS       NM_000262               3696 bp    mRNA    linear   PRI 12-FEB-2023
DEFINITION  Homo sapiens alpha-N-acetylgalactosaminidase (NAGA), transcript
            variant 1, mRNA.
ACCESSION   NM_000262
VERSION     NM_000262.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3696)
  AUTHORS   Yilmaz S and Oner P.
  TITLE     Could low alpha-N-acetylgalactosaminidase plasma concentration cause
            schizophrenia?
  JOURNAL   World J Biol Psychiatry 24 (1), 70-77 (2023)
   PUBMED   35521802
  REMARK    GeneRIF: Could low alpha-N-acetylgalactosaminidase plasma
            concentration cause schizophrenia?
REFERENCE   2  (bases 1 to 3696)
  AUTHORS   Jafari M, Rahimi N, Jami MS, Hashemzadeh Chaleshtori M, Elahian F
            and Mirzaei SA.
  TITLE     Silencing of alpha-N-acetylgalactosaminidase in the gastric cancer
            cells amplified cell death and attenuated migration, while the
            multidrug resistance remained unchanged
  JOURNAL   Cell Biol Int 46 (2), 255-264 (2022)
   PUBMED   34816536
  REMARK    GeneRIF: Silencing of alpha-N-acetylgalactosaminidase in the gastric
            cancer cells amplified cell death and attenuated migration, while
            the multidrug resistance remained unchanged.
REFERENCE   3  (bases 1 to 3696)
  AUTHORS   Li Y, Ma C, Li W, Yang Y, Li X, Liu J, Wang J, Li S, Liu Y, Li K, Li
            J, Huang D, Chen R, Lv L, Li M and Luo XJ.
  TITLE     A missense variant in NDUFA6 confers schizophrenia risk by affecting
            YY1 binding and NAGA expression
  JOURNAL   Mol Psychiatry 26 (11), 6896-6911 (2021)
   PUBMED   33931730
  REMARK    GeneRIF: A missense variant in NDUFA6 confers schizophrenia risk by
            affecting YY1 binding and NAGA expression.
REFERENCE   4  (bases 1 to 3696)
  AUTHORS   Mohamed FE, Al Sorkhy M, Ghattas MA, Al-Zaabi N, Al-Shamsi A,
            Almansoori TM, Al-Gazali L, Al-Dirbashi OY, Al-Jasmi F and Ali BR.
  TITLE     A Novel Homozygous Missense Variant in the NAGA Gene with Extreme
            Intrafamilial Phenotypic Heterogeneity
  JOURNAL   J Mol Neurosci 70 (1), 45-55 (2020)
   PUBMED   31468281
  REMARK    GeneRIF: A Novel Homozygous Missense Variant in the NAGA Gene with
            Extreme Intrafamilial Phenotypic Heterogeneity.
REFERENCE   5  (bases 1 to 3696)
  AUTHORS   Meshach Paul D and Rajasekaran R.
  TITLE     Exploration of Structural and Functional Variations Owing to Point
            Mutations in alpha-NAGA
  JOURNAL   Interdiscip Sci 10 (1), 81-92 (2018)
   PUBMED   27138754
REFERENCE   6  (bases 1 to 3696)
  AUTHORS   Wang AM and Desnick RJ.
  TITLE     Structural organization and complete sequence of the human
            alpha-N-acetylgalactosaminidase gene: homology with the
            alpha-galactosidase A gene provides evidence for evolution from a
            common ancestral gene
  JOURNAL   Genomics 10 (1), 133-142 (1991)
   PUBMED   1646157
REFERENCE   7  (bases 1 to 3696)
  AUTHORS   Wang AM, Bishop DF and Desnick RJ.
  TITLE     Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide
            sequence, and expression of a full-length cDNA. Homology with human
            alpha-galactosidase A suggests evolution from a common ancestral
            gene
  JOURNAL   J Biol Chem 265 (35), 21859-21866 (1990)
   PUBMED   2174888
REFERENCE   8  (bases 1 to 3696)
  AUTHORS   Warner TG, Louie A and Potier M.
  TITLE     Photolabeling of the alpha-neuraminidase/beta-galactosidase complex
            from human placenta with a photoreactive neuraminidase inhibitor
  JOURNAL   Biochem Biophys Res Commun 173 (1), 13-19 (1990)
   PUBMED   2256909
REFERENCE   9  (bases 1 to 3696)
  AUTHORS   Wang AM, Schindler D and Desnick R.
  TITLE     Schindler disease: the molecular lesion in the
            alpha-N-acetylgalactosaminidase gene that causes an infantile
            neuroaxonal dystrophy
  JOURNAL   J Clin Invest 86 (5), 1752-1756 (1990)
   PUBMED   2243144
REFERENCE   10  (bases 1 to 3696)
  AUTHORS   Cantz M and Ulrich-Bott B.
  TITLE     Disorders of glycoprotein degradation
  JOURNAL   J Inherit Metab Dis 13 (4), 523-537 (1990)
   PUBMED   2122119
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M62783.1, M38083.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396398.8/ ENSP00000379680.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB988165.1, M38083.1, Z99716.4
            and BE734247.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000262.2.
            Summary: NAGA encodes the lysosomal enzyme
            alpha-N-acetylgalactosaminidase, which cleaves
            alpha-N-acetylgalactosaminyl moieties from glycoconjugates.
            Mutations in NAGA have been identified as the cause of  Schindler
            disease types I and II (type II also known as Kanzaki disease).
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript variant. Variants 1-3 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3696
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..3696
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /note="alpha-N-acetylgalactosaminidase"
                     /db_xref="GeneID:4668"
                     /db_xref="HGNC:HGNC:7631"
                     /db_xref="MIM:104170"
     misc_feature    396..398
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /note="upstream in-frame stop codon"
     CDS             516..1751
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /EC_number="3.2.1.49"
                     /note="Acetylgalactosaminidase, alpha-N-
                     (alpha-galactosidase B); N-acetylgalactosaminidase, alpha-"
                     /codon_start=1
                     /product="alpha-N-acetylgalactosaminidase precursor"
                     /protein_id="NP_000253.1"
                     /db_xref="CCDS:CCDS14030.1"
                     /db_xref="GeneID:4668"
                     /db_xref="HGNC:HGNC:7631"
                     /db_xref="MIM:104170"
                     /translation="MLLKTVLLLGHVAQVLMLDNGLLQTPPMGWLAWERFRCNINCDED
                     PKNCISEQLFMEMADRMAQDGWRDMGYTYLNIDDCWIGGRDASGRLMPDPKRFPHGIPF
                     LADYVHSLGLKLGIYADMGNFTCMGYPGTTLDKVVQDAQTFAEWKVDMLKLDGCFSTPE
                     ERAQGYPKMAAALNATGRPIAFSCSWPAYEGGLPPRVNYSLLADICNLWRNYDDIQDSW
                     WSVLSILNWFVEHQDILQPVAGPGHWNDPDMLLIGNFGLSLEQSRAQMALWTVLAAPLL
                     MSTDLRTISAQNMDILQNPLMIKINQDPLGIQGRRIHKEKSLIEVYMRPLSNKASALVF
                     FSCRTDMPYRYHSSLGQLNFTGSVIYEAQDVYSGDIISGLRDETNFTVIINPSGVVMWY
                     LYPIKNLEMSQQ"
     sig_peptide     516..566
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     567..1748
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /product="alpha-N-acetylgalactosaminidase"
     misc_feature    885..887
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19683538; propagated from
                     UniProtKB/Swiss-Prot (P17050.2); glycosylation site"
     misc_feature    1044..1046
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19683538; propagated from
                     UniProtKB/Swiss-Prot (P17050.2); glycosylation site"
     misc_feature    1116..1118
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P17050.2); glycosylation site"
     misc_feature    1479..1481
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17693683; propagated from
                     UniProtKB/Swiss-Prot (P17050.2); phosphorylation site"
     misc_feature    1509..1511
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17693683; propagated from
                     UniProtKB/Swiss-Prot (P17050.2); phosphorylation site"
     misc_feature    1590..1592
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P17050.2); glycosylation site"
     misc_feature    1668..1670
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19683538; propagated from
                     UniProtKB/Swiss-Prot (P17050.2); glycosylation site"
     regulatory      2245..2250
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /note="hexamer: AATAAA"
     polyA_site      2266
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /note="major polyA site"
     regulatory      3623..3628
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /note="hexamer: AATAAA"
     polyA_site      3658
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
     polyA_site      3672
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
ORIGIN
        1 atcaggttac cggattcgag tcagaagcgg cggcaggtct gaacgcttcg gtaggataag
       61 tgcggtggga gggggctctg cggttttggg gagcccaggg cgggaacccg gacccggctg
      121 gaagtccgga gcctggccgc agccccgccc ctccgctctt tcttggtgac cttaagccag
      181 tggctgcctt tttctgagcc cgggcggggc cgaaggcggc ccgtaggccc tcgggactcc
      241 cagcactgca gagggtgtga ggtctgacat ccaagacacg ttgtttcgta tttctgaagg
      301 aagaactgaa gctccgggaa gtgatggctg gggatggggc gggcaacttg gggaccgagt
      361 gtacgatcca cgcctaaggt tgagggcggc cgagctagcc aggcagccgt gaccccagtg
      421 cttttcagac gtttcttagc ttccagagcc caacacatac agctgataca cgcagaccag
      481 atctggtcag gtcctcggaa gctgagtcca gagcgatgct gctgaagaca gtgctcttgc
      541 tgggacatgt ggcccaggtg ctgatgctgg acaatgggct cctgcagaca ccacccatgg
      601 gctggctggc ctgggaacgc ttccgctgca acattaactg tgatgaggac ccaaagaact
      661 gcataagtga acagctcttc atggagatgg ctgaccggat ggcacaggat ggatggcggg
      721 acatgggcta cacatacctc aacattgatg actgctggat cggtggtcgc gatgccagtg
      781 gccgcctgat gccggatccc aagcgcttcc ctcatggcat tcctttcctg gctgactacg
      841 ttcactccct gggcctgaag ttgggtatct acgcggacat gggcaacttc acctgcatgg
      901 gttacccagg caccacactg gacaaggtgg tccaggatgc tcagaccttc gccgagtgga
      961 aggtagacat gctcaagctg gatggctgct tctccacccc cgaggagcgg gcccaggggt
     1021 accccaagat ggctgctgcc ctgaatgcca caggccgccc catcgccttc tcctgcagct
     1081 ggccagccta tgaaggcggc ctccccccaa gggtgaacta cagtctgctg gcggacatct
     1141 gcaacctctg gcgtaactat gatgacatcc aggactcctg gtggagcgtg ctctccatcc
     1201 tgaattggtt cgtggagcac caggacatac tgcagccagt ggccggccct gggcactgga
     1261 atgaccctga catgctgctc attgggaact ttggtctcag cttagagcaa tcccgggccc
     1321 agatggccct gtggacggtg ctggcagccc ccctcttgat gtccacagac ctgcgtacca
     1381 tctccgccca gaacatggac attctgcaga atccactcat gatcaaaatc aaccaggatc
     1441 ccttaggcat ccagggacgc aggattcaca aggaaaaatc tctcatcgaa gtgtacatgc
     1501 ggcctctgtc caacaaggct agcgccttag tcttcttcag ctgcaggacc gatatgcctt
     1561 atcgctacca ctcctccctt ggccagctga acttcaccgg gtctgtgata tatgaggccc
     1621 aggacgtcta ctcaggtgac atcatcagtg gcctccgaga tgaaaccaac ttcacagtga
     1681 tcatcaaccc ttcaggggta gtgatgtggt acctgtatcc catcaagaac ctggagatgt
     1741 cccagcagtg aggagctggg acatgtgaca ggctgtggtg gcaccactga gcctagacca
     1801 tggagccttg gcatgcccag ggcaagtggg gaggttctct gctccccagg cctgctcggt
     1861 gactgacccc atcataccca aagtgcaatc tcacggccag gttctatgcc ctgtccaagc
     1921 gtaaaccctc ttggaaactt cttttggggc aattttcctg tggccttcct ggcctctact
     1981 tccatgtgcg cagccccaca gacgttgctg agcaactcgc cagcctcctg agctccatgc
     2041 ccatcaggac tctagcctct gaccttgctg ttgactctga aatcaggatt tggaagtttt
     2101 cgaattagga gtagagagat ctgacctctt gccaggaatg cccatggatc atgtgattgg
     2161 cttttctacc catagagggc cttgcagcct gataccacct gggagtgagg gtcacaaagg
     2221 agaccttggc tccctcaggt caccaataaa cctgttcttt aatcaagtag ttgtaatatg
     2281 gacctggggt acctttagtt agggactctg gtggcactac acggggtgct ggattcaaat
     2341 ctcacctcta tggatgatgt ctggcatcgt ctggcccctc cttttccaaa gtgaccagaa
     2401 gattgtactt cctagagatg ccagacttgc ctcacaccca ggagctgccc ctgctgtgcc
     2461 tggtatgctg gcagtggtga tggtgacaac acaatgaggc caagtagcaa tgctcccagg
     2521 tcctgcagct tgtgctctgc ccagcagtgc ccctggccca gcacctcagc ctgctcttct
     2581 ctctggtggc tccaccccaa cccctacttc ttttccttta tttctctccc aacctggctg
     2641 caaaggaggt tcatattccc cagatgtgtc cacaaacctg tccaggagtt gtgtcttaaa
     2701 attgatttcc tgtccctctt cctaaggaca ggggtaacag tcaaagtgaa ggaatgatgg
     2761 gttcttgcct gtcttgcttt ggtccgtatt tcccaagccc tcctctttta gccaaggcta
     2821 cagggcactt gtcttccctg gtggctctcc cctttggaga gagctagtgg cagagcaacc
     2881 tagctaggtc ctccttgggc tttgaatgca ggagcaccca gtgccccagg ccttgcactg
     2941 tgctgcccaa ggagtatttt ctgggtggat ctcccatact cctcagggtt ctgaggtcct
     3001 tgtatttagg gtatggtgta aaaacttaca tatgcacatt ttgttacatc atttaagatg
     3061 attgaagctt tactggttaa gtatagggtc accagagaaa gttcctttcc ccagttgatg
     3121 tcttgaggct gttgagaaac ttaggacaga agcctacctc atcccaggcc tgcccctccg
     3181 tgcatagctc tgcctttggg tcttgttcat agtgctgttc aggcaaaatg gaatagtctc
     3241 aggtgggaac accttctctt gctagctcca ggaaggcttt gtgggaaatg agttgagacc
     3301 atggacttgg gagttggggg ccagagttga gcctggactt gaccaattaa ttcccttacc
     3361 tttcagccca agatagctac atgtctttac ttgctgtata agttttcctt ttgtcctggg
     3421 ggtgcctgat tgatcctatc tcttcaccct tcattctttc aacaaacatg ccatctatct
     3481 cccaggacat ttattccctt ctattcaagg ccagttagga atgcaattat tttttttttt
     3541 cagttaaata cagacttgtt tggacgcaag gtaccctttc tctttttaaa aactttttat
     3601 catgaaaact ttcaaataca aaaataaaat ggtagagtga acctccatgt acccagcatc
     3661 cagctccagt aaccatcaac gtgtaccatt atttca
//
LOCUS       NM_000263               2475 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens N-acetyl-alpha-glucosaminidase (NAGLU), mRNA.
ACCESSION   NM_000263
VERSION     NM_000263.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2475)
  AUTHORS   Liang S, Luo D, Hu L, Fang M, Li J, Deng J, Fang H, Zhang H, He L,
            Xu J, Liang Y and Chen C.
  TITLE     Variations of urinary N-acetyl-beta-D-glucosaminidase levels and its
            performance in detecting acute kidney injury under different thyroid
            hormones levels: a prospectively recruited, observational study
  JOURNAL   BMJ Open 12 (3), e055787 (2022)
   PUBMED   35241468
  REMARK    GeneRIF: Variations of urinary N-acetyl-beta-D-glucosaminidase
            levels and its performance in detecting acute kidney injury under
            different thyroid hormones levels: a prospectively recruited,
            observational study. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2475)
  AUTHORS   Beneto N, Cozar M, Gort L, Pacheco L, Vilageliu L, Grinberg D and
            Canals I.
  TITLE     Generation of two NAGLU-mutated homozygous cell lines from healthy
            induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo
            B syndrome
  JOURNAL   Stem Cell Res 42, 101668 (2020)
   PUBMED   31825816
  REMARK    GeneRIF: Generation of two NAGLU-mutated homozygous cell lines from
            healthy induced pluripotent stem cells using CRISPR/Cas9 to model
            Sanfilippo B syndrome.
REFERENCE   3  (bases 1 to 2475)
  AUTHORS   Birrane G, Dassier AL, Romashko A, Lundberg D, Holmes K, Cottle T,
            Norton AW, Zhang B, Concino MF and Meiyappan M.
  TITLE     Structural characterization of the alpha-N-acetylglucosaminidase, a
            key enzyme in the pathogenesis of Sanfilippo syndrome B
  JOURNAL   J Struct Biol 205 (3), 65-71 (2019)
   PUBMED   30802506
  REMARK    GeneRIF: Structural characterization of the NAGLU, a key enzyme in
            the pathogenesis of Sanfilippo syndrome B, has been reported.
REFERENCE   4  (bases 1 to 2475)
  AUTHORS   Choi Y, Kwon CH, Lee SJ, Park J, Shin JY and Park DY.
  TITLE     Integrative analysis of oncogenic fusion genes and their functional
            impact in colorectal cancer
  JOURNAL   Br J Cancer 119 (2), 230-240 (2018)
   PUBMED   29955133
  REMARK    GeneRIF: we identified and characterised oncogenic fusion genes and
            their function in CRC, and implicated NAGLU-IKZF3 and RNF121-FOLR2
            as novel molecular targets for personalised medicine development.
REFERENCE   5  (bases 1 to 2475)
  AUTHORS   Zhao Z, Yazdani A, Shen Y, Sun Z, Bailey J, Caskey CT and Lee CC.
  TITLE     Molecular dissection of a cosmid from a gene-rich region in 17q21
            and characterization of a candidate gene for
            alpha-N-acetylglucosaminidase with two cDNA isoforms
  JOURNAL   Mamm Genome 7 (9), 686-690 (1996)
   PUBMED   8703123
  REMARK    Erratum:[Mamm Genome 1997 Feb;8(2):161]
REFERENCE   6  (bases 1 to 2475)
  AUTHORS   Zhao HG, Li HH, Bach G, Schmidtchen A and Neufeld EF.
  TITLE     The molecular basis of Sanfilippo syndrome type B
  JOURNAL   Proc Natl Acad Sci U S A 93 (12), 6101-6105 (1996)
   PUBMED   8650226
REFERENCE   7  (bases 1 to 2475)
  AUTHORS   Wagner,V.F. and Northrup,H.
  TITLE     Mucopolysaccharidosis Type III
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   31536183
REFERENCE   8  (bases 1 to 2475)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301462
REFERENCE   9  (bases 1 to 2475)
  AUTHORS   Sasaki T, Sukegawa K, Masue M, Fukuda S, Tomatsu S and Orii T.
  TITLE     Purification and partial characterization of
            alpha-N-acetylglucosaminidase from human liver
  JOURNAL   J Biochem 110 (5), 842-846 (1991)
   PUBMED   1783617
REFERENCE   10  (bases 1 to 2475)
  AUTHORS   Vance,J.M., Pericak-Vance,M.A., Elston,R.C., Conneally,P.M.,
            Namboodiri,K.K., Wappner,R.S. and Yu,P.L.
  TITLE     Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase
            in black and white populations: a new polymorphism
  JOURNAL   Am J Med Genet 7 (2), 131-140 (1980)
   PUBMED   6781343
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HM005331.1, U40846.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000225927.7/ ENSP00000225927.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF435029.1, U40846.1,
            AI299657.1 and BQ012843.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000263.3.
            Summary: This gene encodes an enzyme that degrades heparan sulfate
            by hydrolysis of terminal N-acetyl-D-glucosamine residues in
            N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause
            of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as
            Sanfilippo syndrome B. This disease is characterized by the
            lysosomal accumulation and urinary excretion of heparan sulfate.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2475
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..2475
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /note="N-acetyl-alpha-glucosaminidase"
                     /db_xref="GeneID:4669"
                     /db_xref="HGNC:HGNC:7632"
                     /db_xref="MIM:609701"
     CDS             33..2264
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /EC_number="3.2.1.50"
                     /note="alpha-N-acetylglucosaminidase;
                     N-acetylglucosaminidase, alpha; testicular tissue protein
                     Li 18"
                     /codon_start=1
                     /product="alpha-N-acetylglucosaminidase precursor"
                     /protein_id="NP_000254.2"
                     /db_xref="CCDS:CCDS11427.1"
                     /db_xref="GeneID:4669"
                     /db_xref="HGNC:HGNC:7632"
                     /db_xref="MIM:609701"
                     /translation="MEAVAVAAAVGVLLLAGAGGAAGDEAREAAAVRALVARLLGPGPA
                     ADFSVSVERALAAKPGLDTYSLGGGGAARVRVRGSTGVAAAAGLHRYLRDFCGCHVAWS
                     GSQLRLPRPLPAVPGELTEATPNRYRYYQNVCTQSYSFVWWDWARWEREIDWMALNGIN
                     LALAWSGQEAIWQRVYLALGLTQAEINEFFTGPAFLAWGRMGNLHTWDGPLPPSWHIKQ
                     LYLQHRVLDQMRSFGMTPVLPAFAGHVPEAVTRVFPQVNVTKMGSWGHFNCSYSCSFLL
                     APEDPIFPIIGSLFLRELIKEFGTDHIYGADTFNEMQPPSSEPSYLAAATTAVYEAMTA
                     VDTEAVWLLQGWLFQHQPQFWGPAQIRAVLGAVPRGRLLVLDLFAESQPVYTRTASFQG
                     QPFIWCMLHNFGGNHGLFGALEAVNGGPEAARLFPNSTMVGTGMAPEGISQNEVVYSLM
                     AELGWRKDPVPDLAAWVTSFAARRYGVSHPDAGAAWRLLLRSVYNCSGEACRGHNRSPL
                     VRRPSLQMNTSIWYNRSDVFEAWRLLLTSAPSLATSPAFRYDLLDLTRQAVQELVSLYY
                     EEARSAYLSKELASLLRAGGVLAYELLPALDEVLASDSRFLLGSWLEQARAAAVSEAEA
                     DFYEQNSRYQLTLWGPEGNILDYANKQLAGLVANYYTPRWRLFLEALVDSVAQGIPFQQ
                     HQFDKNVFQLEQAFVLSKQRYPSQPRGDTVDLAKKIFLKYYPRWVAGSW"
     sig_peptide     33..101
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     102..2261
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /product="alpha-N-acetylglucosaminidase"
     misc_feature    813..815
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|Ref.7, ECO:0007744|PDB:4XWH;
                     propagated from UniProtKB/Swiss-Prot (P54802.2);
                     glycosylation site"
     misc_feature    846..848
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|Ref.7, ECO:0007744|PDB:4XWH;
                     propagated from UniProtKB/Swiss-Prot (P54802.2);
                     glycosylation site"
     misc_feature    1335..1337
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|Ref.7, ECO:0007744|PDB:4XWH;
                     propagated from UniProtKB/Swiss-Prot (P54802.2);
                     glycosylation site"
     misc_feature    1539..1541
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|Ref.7, ECO:0007744|PDB:4XWH;
                     propagated from UniProtKB/Swiss-Prot (P54802.2);
                     glycosylation site"
     misc_feature    1608..1610
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|Ref.7, ECO:0007744|PDB:4XWH;
                     propagated from UniProtKB/Swiss-Prot (P54802.2);
                     glycosylation site"
     misc_feature    1626..1628
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218, ECO:0000269|Ref.7,
                     ECO:0007744|PDB:4XWH; propagated from UniProtKB/Swiss-Prot
                     (P54802.2); glycosylation site"
     regulatory      2447..2452
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /note="hexamer: ATTAAA"
     polyA_site      2475
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /note="major polyA site"
ORIGIN
        1 ctggccgtcg cgggacccgc aggactgaga ccatggaggc ggtggcggtg gccgcggcgg
       61 tgggggtcct tctcctggcc ggggccgggg gcgcggcagg cgacgaggcc cgggaggcgg
      121 cggccgtgcg ggcgctcgtg gcccggctgc tggggccagg ccccgcggcc gacttctccg
      181 tgtcggtgga gcgcgctctg gctgccaagc cgggcttgga cacctacagc ctgggcggcg
      241 gcggcgcggc gcgcgtgcgg gtgcgcggct ccacgggcgt ggcggccgcc gcggggctgc
      301 accgctacct gcgcgacttc tgtggctgcc acgtggcctg gtccggctct cagctgcgcc
      361 tgccgcggcc actgccagcc gtgccggggg agctgaccga ggccacgccc aacaggtacc
      421 gctattacca gaatgtgtgc acgcaaagct actctttcgt gtggtgggac tgggcccgct
      481 gggagcgaga gatagactgg atggcgctga atggcatcaa cctggcactg gcctggagcg
      541 gccaggaggc catctggcag cgggtgtacc tggccttggg cctgacccag gcagagatca
      601 atgagttctt tactggtcct gccttcctgg cctgggggcg aatgggcaac ctgcacacct
      661 gggatggccc cctgcccccc tcctggcaca tcaagcagct ttacctgcag caccgggtcc
      721 tggaccagat gcgctccttc ggcatgaccc cagtgctgcc tgcattcgcg gggcatgttc
      781 ccgaggctgt caccagggtg ttccctcagg tcaatgtcac gaagatgggc agttggggcc
      841 actttaactg ttcctactcc tgctccttcc ttctggctcc ggaagacccc atattcccca
      901 tcatcgggag cctcttcctg cgagagctga tcaaagagtt tggcacagac cacatctatg
      961 gggccgacac tttcaatgag atgcagccac cttcctcaga gccctcctac cttgccgcag
     1021 ccaccactgc cgtctatgag gccatgactg cagtggatac tgaggctgtg tggctgctcc
     1081 aaggctggct cttccagcac cagccgcagt tctgggggcc cgcccagatc agggctgtgc
     1141 tgggagctgt gccccgtggc cgcctcctgg ttctggacct gtttgctgag agccagcctg
     1201 tgtatacccg cactgcctcc ttccagggcc agcccttcat ctggtgcatg ctgcacaact
     1261 ttgggggaaa ccatggtctt tttggagccc tagaggctgt gaacggaggc ccagaagctg
     1321 cccgcctctt ccccaactcc accatggtag gcacgggcat ggcccccgag ggcatcagcc
     1381 agaacgaagt ggtctattcc ctcatggctg agctgggctg gcgaaaggac ccagtgccag
     1441 atttggcagc ctgggtgacc agctttgccg cccggcggta tggggtctcc cacccggacg
     1501 caggggcagc gtggaggcta ctgctccgga gtgtgtacaa ctgctccggg gaggcctgca
     1561 ggggccacaa tcgtagcccg ctggtcaggc ggccgtccct acagatgaat accagcatct
     1621 ggtacaaccg atctgatgtg tttgaggcct ggcggctgct gctcacatct gctccctccc
     1681 tggccaccag ccccgccttc cgctacgacc tgctggacct cactcggcag gcagtgcagg
     1741 agctggtcag cttgtactat gaggaggcaa gaagcgccta cctgagcaag gagctggcct
     1801 ccctgttgag ggctggaggc gtcctggcct atgagctgct gccggcactg gacgaggtgc
     1861 tggctagtga cagccgcttc ttgctgggca gctggctaga gcaggcccga gcagcggcag
     1921 tcagtgaggc cgaggccgat ttctacgagc agaacagccg ctaccagctg accttgtggg
     1981 ggccagaagg caacatcctg gactatgcca acaagcagct ggcggggttg gtggccaact
     2041 actacacccc tcgctggcgg cttttcctgg aggcgctggt tgacagtgtg gcccagggca
     2101 tccctttcca acagcaccag tttgacaaaa atgtcttcca actggagcag gccttcgttc
     2161 tcagcaagca gaggtacccc agccagccgc gaggagacac tgtggacctg gccaagaaga
     2221 tcttcctcaa atattacccc cgctgggtgg ccggctcttg gtgatagatt cgccaccact
     2281 gggccttgtt ttccgctaat tccagggcag attccagggc ccagagctgg acagacatca
     2341 caggataacc caggcctggg aggaggcccc acggcctgct ggtggggtct gacctggggg
     2401 gattggaggg aaatgacctg ccctccacca ccacccaaag tgtgggatta aagtactgtt
     2461 ttctttccac ttaaa
//
LOCUS       NM_000264               8662 bp    mRNA    linear   PRI 22-SEP-2023
DEFINITION  Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.
ACCESSION   NM_000264
VERSION     NM_000264.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8662)
  AUTHORS   Peng X, Chen M, Wang D, Han R, Gao T, Liu L, Liu C and Zhang K.
  TITLE     Mutations of PTCH1 gene in two pedigrees with bifid rib-basal cell
            nevus-jaw cyst syndrome
  JOURNAL   Zhejiang Da Xue Xue Bao Yi Xue Ban 52 (2), 223-229 (2023)
   PUBMED   37283107
  REMARK    GeneRIF: Mutations of PTCH1 gene in two pedigrees with bifid
            rib-basal cell nevus-jaw cyst syndrome.
REFERENCE   2  (bases 1 to 8662)
  AUTHORS   Yu P, Yang J and Zhang Y.
  TITLE     Identification and characterization of two novel PTCH1 splice
            variants
  JOURNAL   Biochem Biophys Res Commun 487 (1), 68-75 (2017)
   PUBMED   28390897
  REMARK    GeneRIF: Thus, our study clearly demonstrated the unique involvement
            of the two novel PTCH1 splice variants in HH signal transduction.
REFERENCE   3  (bases 1 to 8662)
  AUTHORS   Wu F, Zhang Y, Sun B, McMahon AP and Wang Y.
  TITLE     Hedgehog Signaling: From Basic Biology to Cancer Therapy
  JOURNAL   Cell Chem Biol 24 (3), 252-280 (2017)
   PUBMED   28286127
  REMARK    Review article
REFERENCE   4  (bases 1 to 8662)
  AUTHORS   Shimokawa T, Svard J, Heby-Henricson K, Teglund S, Toftgard R and
            Zaphiropoulos PG.
  TITLE     Distinct roles of first exon variants of the tumor-suppressor
            Patched1 in Hedgehog signaling
  JOURNAL   Oncogene 26 (34), 4889-4896 (2007)
   PUBMED   17310997
REFERENCE   5  (bases 1 to 8662)
  AUTHORS   Nagao K, Toyoda M, Takeuchi-Inoue K, Fujii K, Yamada M and Miyashita
            T.
  TITLE     Identification and characterization of multiple isoforms of a murine
            and human tumor suppressor, patched, having distinct first exons
  JOURNAL   Genomics 85 (4), 462-471 (2005)
   PUBMED   15780749
  REMARK    GeneRIF: Seven isoforms of human PTCH mRNA were identified.
REFERENCE   6  (bases 1 to 8662)
  AUTHORS   Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM,
            Quinn AG, Myers RM, Cox DR, Epstein EH Jr and Scott MP.
  TITLE     Human homolog of patched, a candidate gene for the basal cell nevus
            syndrome
  JOURNAL   Science 272 (5268), 1668-1671 (1996)
   PUBMED   8658145
REFERENCE   7  (bases 1 to 8662)
  AUTHORS   Hahn H, Christiansen J, Wicking C, Zaphiropoulos PG, Chidambaram A,
            Gerrard B, Vorechovsky I, Bale AE, Toftgard R, Dean M and Wainwright
            B.
  TITLE     A mammalian patched homolog is expressed in target tissues of sonic
            hedgehog and maps to a region associated with developmental
            abnormalities
  JOURNAL   J Biol Chem 271 (21), 12125-12128 (1996)
   PUBMED   8647801
REFERENCE   8  (bases 1 to 8662)
  AUTHORS   Muller,E. II and Hudgins,L.
  TITLE     9q22.3 Microdeletion - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   21850767
REFERENCE   9  (bases 1 to 8662)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301702
REFERENCE   10  (bases 1 to 8662)
  AUTHORS   Evans,D.G. and Farndon,P.A.
  TITLE     Nevoid Basal Cell Carcinoma Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301330
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2692930.1,
            SRR18074969.1188707.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000331920.11/ ENSP00000332353.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161729.27.
            On Jul 26, 2019 this sequence version replaced NM_000264.4.
            Summary: This gene encodes a member of the patched family of
            proteins and a component of the hedgehog signaling pathway.
            Hedgehog signaling is important in embryonic development and
            tumorigenesis. The encoded protein is the receptor for the secreted
            hedgehog ligands, which include sonic hedgehog, indian hedgehog and
            desert hedgehog. Following binding by one of the hedgehog ligands,
            the encoded protein is trafficked away from the primary cilium,
            relieving inhibition of the G-protein-coupled receptor smoothened,
            which results in activation of downstream signaling. Mutations of
            this gene have been associated with basal cell nevus syndrome and
            holoprosencephaly. [provided by RefSeq, Aug 2017].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..8662
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.32"
     gene            1..8662
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="patched 1"
                     /db_xref="GeneID:5727"
                     /db_xref="HGNC:HGNC:9585"
                     /db_xref="MIM:601309"
     misc_feature    681..683
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="upstream in-frame stop codon"
     CDS             906..5249
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="isoform L is encoded by transcript variant 1b;
                     protein patched homolog 1"
                     /codon_start=1
                     /product="protein patched homolog 1 isoform L"
                     /protein_id="NP_000255.2"
                     /db_xref="CCDS:CCDS6714.1"
                     /db_xref="GeneID:5727"
                     /db_xref="HGNC:HGNC:9585"
                     /db_xref="MIM:601309"
                     /translation="MASAGNAAEPQDRGGGGSGCIGAPGRPAGGGRRRRTGGLRRAAAP
                     DRDYLHRPSYCDAAFALEQISKGKATGRKAPLWLRAKFQRLLFKLGCYIQKNCGKFLVV
                     GLLIFGAFAVGLKAANLETNVEELWVEVGGRVSRELNYTRQKIGEEAMFNPQLMIQTPK
                     EEGANVLTTEALLQHLDSALQASRVHVYMYNRQWKLEHLCYKSGELITETGYMDQIIEY
                     LYPCLIITPLDCFWEGAKLQSGTAYLLGKPPLRWTNFDPLEFLEELKKINYQVDSWEEM
                     LNKAEVGHGYMDRPCLNPADPDCPATAPNKNSTKPLDMALVLNGGCHGLSRKYMHWQEE
                     LIVGGTVKNSTGKLVSAHALQTMFQLMTPKQMYEHFKGYEYVSHINWNEDKAAAILEAW
                     QRTYVEVVHQSVAQNSTQKVLSFTTTTLDDILKSFSDVSVIRVASGYLLMLAYACLTML
                     RWDCSKSQGAVGLAGVLLVALSVAAGLGLCSLIGISFNAATTQVLPFLALGVGVDDVFL
                     LAHAFSETGQNKRIPFEDRTGECLKRTGASVALTSISNVTAFFMAALIPIPALRAFSLQ
                     AAVVVVFNFAMVLLIFPAILSMDLYRREDRRLDIFCCFTSPCVSRVIQVEPQAYTDTHD
                     NTRYSPPPPYSSHSFAHETQITMQSTVQLRTEYDPHTHVYYTTAEPRSEISVQPVTVTQ
                     DTLSCQSPESTSSTRDLLSQFSDSSLHCLEPPCTKWTLSSFAEKHYAPFLLKPKAKVVV
                     IFLFLGLLGVSLYGTTRVRDGLDLTDIVPRETREYDFIAAQFKYFSFYNMYIVTQKADY
                     PNIQHLLYDLHRSFSNVKYVMLEENKQLPKMWLHYFRDWLQGLQDAFDSDWETGKIMPN
                     NYKNGSDDGVLAYKLLVQTGSRDKPIDISQLTKQRLVDADGIINPSAFYIYLTAWVSND
                     PVAYAASQANIRPHRPEWVHDKADYMPETRLRIPAAEPIEYAQFPFYLNGLRDTSDFVE
                     AIEKVRTICSNYTSLGLSSYPNGYPFLFWEQYIGLRHWLLLFISVVLACTFLVCAVFLL
                     NPWTAGIIVMVLALMTVELFGMMGLIGIKLSAVPVVILIASVGIGVEFTVHVALAFLTA
                     IGDKNRRAVLALEHMFAPVLDGAVSTLLGVLMLAGSEFDFIVRYFFAVLAILTILGVLN
                     GLVLLPVLLSFFGPYPEVSPANGLNRLPTPSPEPPPSVVRFAMPPGHTHSGSDSSDSEY
                     SSQTTVSGLSEELRHYEAQQGAGGPAHQVIVEATENPVFAHSTVVHPESRHHPPSNPRQ
                     QPHLDSGSLPPGRQGQQPRRDPPREGLWPPPYRPRRDAFEISTEGHSGPSNRARWGPRG
                     ARSHNPRNPASTAMGSSVPGYCQPITTVTASASVTVAVHPPPVPGPGRNPRGGLCPGYP
                     ETDHGLFEDPHVPFHVRCERRDSKVEVIELQDVECEERPRGSSSN"
     misc_feature    906..1034
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13635.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1206..1268
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13635.2);
                     transmembrane region"
     misc_feature    1326..1328
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13635.2); glycosylation site"
     misc_feature    1839..1841
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13635.2); glycosylation site"
     misc_feature    1950..1952
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13635.2); glycosylation site"
     misc_feature    2145..2147
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13635.2); glycosylation site"
     misc_feature    2214..2276
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13635.2);
                     transmembrane region"
     misc_feature    2322..2384
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13635.2);
                     transmembrane region"
     misc_feature    2409..2471
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13635.2);
                     transmembrane region"
     misc_feature    2547..2609
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13635.2);
                     transmembrane region"
     misc_feature    2637..2699
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13635.2);
                     transmembrane region"
     misc_feature    3150..3212
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13635.2);
                     transmembrane region"
     misc_feature    3528..3530
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13635.2); glycosylation site"
     misc_feature    3903..3905
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13635.2); glycosylation site"
     misc_feature    3987..4049
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13635.2);
                     transmembrane region"
     misc_feature    4071..4133
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13635.2);
                     transmembrane region"
     misc_feature    4155..4217
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13635.2);
                     transmembrane region"
     misc_feature    4269..4328
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13635.2);
                     transmembrane region"
     misc_feature    4368..4430
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13635.2);
                     transmembrane region"
     misc_feature    4470..4607
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13635.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4488..4490
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q61115; propagated from
                     UniProtKB/Swiss-Prot (Q13635.2); phosphorylation site"
     misc_feature    4494..4496
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61115; propagated from
                     UniProtKB/Swiss-Prot (Q13635.2); phosphorylation site"
     misc_feature    4713..4985
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13635.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      8204..8209
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="hexamer: AATAAA"
     polyA_site      8231
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="major polyA site"
     regulatory      8640..8645
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
                     /note="hexamer: AATAAA"
     polyA_site      8662
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH"
ORIGIN
        1 accccctccc ctcccctcct cctcttcttt ctccaaatgg agagagttct tttttttctt
       61 cttccatctc atctattgaa tcaaggagct gctgcggccg ctgcccgctg cacacacaca
      121 gagcggagtc cccaggtccc gggagcgaga gaggcgcgct gcacggggac agaatggtcc
      181 agcgggttgc cgaggagcac aagaaagcag agtccgggac cgagcagcca ccgcgaaccc
      241 agcagccaga gcccgagcag cccgagcagc agctcctgga gccgccaccg ccagcagcag
      301 ccaccgcggg agcagcggca gctgcggctg cccgggcccg gcagcgctga gacccgccgg
      361 gcaccctcgg accccgcggc ggcggcggct ctgcgcttgc cctccgcggc cgctcgggcg
      421 acccgggagg cgccgagaga gccagcgcgg ccggcgggag cagcggggat tcgctggctc
      481 tttctgcagt gaaggggtcg cggcgcgggg cggggggcgg gtagggggag ttggggaccg
      541 caaggagtgc cgcggaagcg cccgaaggac aggctcgctc ggcgcgccgg ctctcgctct
      601 tccgcgaact ggatgtgggc agcggcggcc gcagagacct cgggaccccc gcgcaatgtg
      661 gcaatggaag gcgcagggtc tgactccccg gcagcggccg cggccgcagc ggcagcagcg
      721 cccgccgtgt gagcagcagc agcggctggt ctgtcaaccg gagcccgagc ccgagcagcc
      781 tgcggccagc agcgtcctcg caagccgagc gcccaggcgc gccaggagcc cgcagcagcg
      841 gcagcagcgc gccgggccgc ccgggaagcc tccgtccccg cggcggcggc ggcggcggcg
      901 gcaacatggc ctcggctggt aacgccgccg agccccagga ccgcggcggc ggcggcagcg
      961 gctgtatcgg tgccccggga cggccggctg gaggcgggag gcgcagacgg acgggggggc
     1021 tgcgccgtgc tgccgcgccg gaccgggact atctgcaccg gcccagctac tgcgacgccg
     1081 ccttcgctct ggagcagatt tccaagggga aggctactgg ccggaaagcg ccgctgtggc
     1141 tgagagcgaa gtttcagaga ctcttattta aactgggttg ttacattcaa aaaaactgcg
     1201 gcaagttctt ggttgtgggc ctcctcatat ttggggcctt cgcggtggga ttaaaagcag
     1261 cgaacctcga gaccaacgtg gaggagctgt gggtggaagt tggaggacga gtaagtcgtg
     1321 aattaaatta tactcgccag aagattggag aagaggctat gtttaatcct caactcatga
     1381 tacagacccc taaagaagaa ggtgctaatg tcctgaccac agaagcgctc ctacaacacc
     1441 tggactcggc actccaggcc agccgtgtcc atgtatacat gtacaacagg cagtggaaat
     1501 tggaacattt gtgttacaaa tcaggagagc ttatcacaga aacaggttac atggatcaga
     1561 taatagaata tctttaccct tgtttgatta ttacaccttt ggactgcttc tgggaagggg
     1621 cgaaattaca gtctgggaca gcatacctcc taggtaaacc tcctttgcgg tggacaaact
     1681 tcgacccttt ggaattcctg gaagagttaa agaaaataaa ctatcaagtg gacagctggg
     1741 aggaaatgct gaataaggct gaggttggtc atggttacat ggaccgcccc tgcctcaatc
     1801 cggccgatcc agactgcccc gccacagccc ccaacaaaaa ttcaaccaaa cctcttgata
     1861 tggcccttgt tttgaatggt ggatgtcatg gcttatccag aaagtatatg cactggcagg
     1921 aggagttgat tgtgggtggc acagtcaaga acagcactgg aaaactcgtc agcgcccatg
     1981 ccctgcagac catgttccag ttaatgactc ccaagcaaat gtacgagcac ttcaaggggt
     2041 acgagtatgt ctcacacatc aactggaacg aggacaaagc ggcagccatc ctggaggcct
     2101 ggcagaggac atatgtggag gtggttcatc agagtgtcgc acagaactcc actcaaaagg
     2161 tgctttcctt caccaccacg accctggacg acatcctgaa atccttctct gacgtcagtg
     2221 tcatccgcgt ggccagcggc tacttactca tgctcgccta tgcctgtcta accatgctgc
     2281 gctgggactg ctccaagtcc cagggtgccg tggggctggc tggcgtcctg ctggttgcac
     2341 tgtcagtggc tgcaggactg ggcctgtgct cattgatcgg aatttccttt aacgctgcaa
     2401 caactcaggt tttgccattt ctcgctcttg gtgttggtgt ggatgatgtt tttcttctgg
     2461 cccacgcctt cagtgaaaca ggacagaata aaagaatccc ttttgaggac aggaccgggg
     2521 agtgcctgaa gcgcacagga gccagcgtgg ccctcacgtc catcagcaat gtcacagcct
     2581 tcttcatggc cgcgttaatc ccaattcccg ctctgcgggc gttctccctc caggcagcgg
     2641 tagtagtggt gttcaatttt gccatggttc tgctcatttt tcctgcaatt ctcagcatgg
     2701 atttatatcg acgcgaggac aggagactgg atattttctg ctgttttaca agcccctgcg
     2761 tcagcagagt gattcaggtt gaacctcagg cctacaccga cacacacgac aatacccgct
     2821 acagcccccc acctccctac agcagccaca gctttgccca tgaaacgcag attaccatgc
     2881 agtccactgt ccagctccgc acggagtacg acccccacac gcacgtgtac tacaccaccg
     2941 ctgagccgcg ctccgagatc tctgtgcagc ccgtcaccgt gacacaggac accctcagct
     3001 gccagagccc agagagcacc agctccacaa gggacctgct ctcccagttc tccgactcca
     3061 gcctccactg cctcgagccc ccctgtacga agtggacact ctcatctttt gctgagaagc
     3121 actatgctcc tttcctcttg aaaccaaaag ccaaggtagt ggtgatcttc ctttttctgg
     3181 gcttgctggg ggtcagcctt tatggcacca cccgagtgag agacgggctg gaccttacgg
     3241 acattgtacc tcgggaaacc agagaatatg actttattgc tgcacaattc aaatactttt
     3301 ctttctacaa catgtatata gtcacccaga aagcagacta cccgaatatc cagcacttac
     3361 tttacgacct acacaggagt ttcagtaacg tgaagtatgt catgttggaa gaaaacaaac
     3421 agcttcccaa aatgtggctg cactacttca gagactggct tcagggactt caggatgcat
     3481 ttgacagtga ctgggaaacc gggaaaatca tgccaaacaa ttacaagaat ggatcagacg
     3541 atggagtcct tgcctacaaa ctcctggtgc aaaccggcag ccgcgataag cccatcgaca
     3601 tcagccagtt gactaaacag cgtctggtgg atgcagatgg catcattaat cccagcgctt
     3661 tctacatcta cctgacggct tgggtcagca acgaccccgt cgcgtatgct gcctcccagg
     3721 ccaacatccg gccacaccga ccagaatggg tccacgacaa agccgactac atgcctgaaa
     3781 caaggctgag aatcccggca gcagagccca tcgagtatgc ccagttccct ttctacctca
     3841 acggcttgcg ggacacctca gactttgtgg aggcaattga aaaagtaagg accatctgca
     3901 gcaactatac gagcctgggg ctgtccagtt accccaacgg ctaccccttc ctcttctggg
     3961 agcagtacat cggcctccgc cactggctgc tgctgttcat cagcgtggtg ttggcctgca
     4021 cattcctcgt gtgcgctgtc ttccttctga acccctggac ggccgggatc attgtgatgg
     4081 tcctggcgct gatgacggtc gagctgttcg gcatgatggg cctcatcgga atcaagctca
     4141 gtgccgtgcc cgtggtcatc ctgatcgctt ctgttggcat aggagtggag ttcaccgttc
     4201 acgttgcttt ggcctttctg acggccatcg gcgacaagaa ccgcagggct gtgcttgccc
     4261 tggagcacat gtttgcaccc gtcctggatg gcgccgtgtc cactctgctg ggagtgctga
     4321 tgctggcggg atctgagttc gacttcattg tcaggtattt ctttgctgtg ctggcgatcc
     4381 tcaccatcct cggcgttctc aatgggctgg ttttgcttcc cgtgcttttg tctttctttg
     4441 gaccatatcc tgaggtgtct ccagccaacg gcttgaaccg cctgcccaca ccctcccctg
     4501 agccaccccc cagcgtggtc cgcttcgcca tgccgcccgg ccacacgcac agcgggtctg
     4561 attcctccga ctcggagtat agttcccaga cgacagtgtc aggcctcagc gaggagcttc
     4621 ggcactacga ggcccagcag ggcgcgggag gccctgccca ccaagtgatc gtggaagcca
     4681 cagaaaaccc cgtcttcgcc cactccactg tggtccatcc cgaatccagg catcacccac
     4741 cctcgaaccc gagacagcag ccccacctgg actcagggtc cctgcctccc ggacggcaag
     4801 gccagcagcc ccgcagggac ccccccagag aaggcttgtg gccacccccc tacagaccgc
     4861 gcagagacgc ttttgaaatt tctactgaag ggcattctgg ccctagcaat agggcccgct
     4921 ggggccctcg cggggcccgt tctcacaacc ctcggaaccc agcgtccact gccatgggca
     4981 gctccgtgcc cggctactgc cagcccatca ccactgtgac ggcttctgcc tccgtgactg
     5041 tcgccgtgca cccgccgcct gtccctgggc ctgggcggaa cccccgaggg ggactctgcc
     5101 caggctaccc tgagactgac cacggcctgt ttgaggaccc ccacgtgcct ttccacgtcc
     5161 ggtgtgagag gagggattcg aaggtggaag tcattgagct gcaggacgtg gaatgcgagg
     5221 agaggccccg gggaagcagc tccaactgag ggtgattaaa atctgaagca aagaggccaa
     5281 agattggaaa ccccccaccc ccacctcttt ccagaactgc ttgaagagaa ctggttggag
     5341 ttatggaaaa gatgccctgt gccaggacag cagttcattg ttactgtaac cgattgtatt
     5401 attttgttaa atatttctat aaatatttaa gagatgtaca catgtgtaat ataggaagga
     5461 aggatgtaaa gtggtatgat ctggggcttc tccactcctg ccccagagtg tggaggccac
     5521 agtggggcct ctccgtattt gtgcattggg ctccgtgcca caaccaagct tcattagtct
     5581 taaatttcag catatgttgc tgctgcttaa atattgtata atttacttgt ataattctat
     5641 gcaaatattg cttatgtaat aggattattt tgtaaaggtt tctgtttaaa atattttaaa
     5701 tttgcatatc acaaccctgt ggtagtatga aatgttactg ttaactttca aacacgctat
     5761 gcgtgataat ttttttgttt aatgagcaga tatgaagaaa gcacgttaat cctggtggct
     5821 tctctaggtg tcgttgtgtg cggtcctctt gtttggctgt gcgtgtgaac acgtgtgtga
     5881 gttcaccatg tactgtactg tgattttttt tttgtcttgt tttgtttctc tacactgtct
     5941 gtaacctgta gtaggctctg acctagtcag gctggaagcg tcaggatatc ttttcttcgt
     6001 gctggtgagg gctggcccta aacatccacc taatcctttc aaatcagccc ggcaaaagct
     6061 agactctcct cgtgtctacg gcatctctta tgatcattgg ctgccatcca ggaccccaat
     6121 ttgtgcttca gggggataat ctccttctct cggatcattg tgatggatgc tggaacctca
     6181 gggtatggag ctcacatcag ttcatcatgg tgggtgttag agaattcggt gacatgccta
     6241 gtgctgagcc ttggctgggc catgagagtc tgtatactct aaaaagcatg cagcatggtg
     6301 cccctcttct gaccaacaca cacacgaccc ctcccccaac acccccaaat tcaagagtgg
     6361 atgtggccct gtcacaggta gaaaaaccta tttagttaat tctttcttgg cccacagtct
     6421 cccagaaatg atgttttgag tccctatagt ttaaactccc tctcttaaat ggagcagctg
     6481 gttgaggctt tctagatctg tttgcatctt ctttaaaact aagtggtgag catgcattgt
     6541 ggtgtagagg caggcattat gtaggataag agctccgggg ggattcttca tgcaccagtg
     6601 tttagggtac gtgcttccta agtaaatcca aacattgtct ccatcctccc cgtcattagt
     6661 gctctttcaa tgtgatgtgg gaaagcagga ggatggacac accccactga aagatgtagg
     6721 caggggcagg tctctcaacc aggcatattt ttaaaagttg cttctgtact ggttctcttc
     6781 ttttgctctg aggtgtgggc tccctcatct cgtaaccaga gaccagcaca tgtcagggaa
     6841 gcacccagtg tcggctcccc atccaaatcc acaccagcac cttgttacag acaagaagtc
     6901 agaggaaagg gcggggtccc tgcagggctg aagcctaagc tactgtgagg cgctcacgag
     6961 tggcagctcc tgttactccc ttttaaatta cctgggaaat cttaacagaa aggtaatggg
     7021 cccccagaaa tacccacagc atagtgacct cagaccctga tactcaccac aaaactttta
     7081 agatgctgat tgggagccgc ttgtggctgc tgggtgtgtg tgtgtgtgtg tgcgtgcgtg
     7141 cgtgtgtgtg tgtctctgct ggggaccctg gccacccccc tgctgctgtc ttggtgcctg
     7201 tcacccacat ggtctgccat cctaacaccc agctctgctc agaaaacgtc ctgcgtggag
     7261 gagggatgat gcagaattct gaagtcgact tccctctggc tcctggcgtg ccctcgctcc
     7321 cttcctgagc ccagctcgtg ttgcgccgga ggctgcgcgg cccctgattt ctgcatggtg
     7381 tagaactttc tccaatagtc acattggcaa agggagaact ggggtgggcg gggggtgggg
     7441 ctggcaggga attagaattt ctctctctct tttaatagtt ttattttgtc tgtcctgttt
     7501 gttcatttgg atgttttaat ttttaaaaaa aaaaaaactt tgctgatatt tataattttg
     7561 tatcataaga atgttttcct ctacagtatt tgtcatgcca gtttataaca aaaaaaaatg
     7621 cagggatttt atttctattg gaaacattac agctatgttt tacttttgga cagaattttt
     7681 atttgtatag agtgcttact aatgttaaat agttcagagt atataacatt tacattaagg
     7741 actcatggta ggttttaggg taaggagttt aaaggaaata aatattcaaa ctgggtctca
     7801 ttgccaattt tggtggaaat gagtttgtgt catttcaatt acaaagataa aagtatgcca
     7861 tataatttat ttatatgaag atttattttt gtagtgtaca tagtagtcat caagtctttt
     7921 gacagaagta tatttttaaa gaatttatat gtgatgaatc cataatgtct ggaactttgc
     7981 tgagacatga gtgggcacag ttttcattgt aaattacagc aaggaaagaa aatgtttaac
     8041 agtgttaaga gagtcagagc agagtggata ttcatgcgat tatgaagtgt ttattagtta
     8101 ccattggcga cctagcatgc ttctcatttc aaaccttgga aggtgaaaat gtacaaactc
     8161 tctaaataat taatgttcaa acactgatag aaattctaac atgaataaaa aataatataa
     8221 cttgttggtt atatctttgt ttgtagaatg ctttttttct ttaaaatact tgggagagac
     8281 agttagtgtt ggagccatca gaaactgttg tttcatcttg ctgaccttgt gacactcttc
     8341 ttttttgctc tatctgatgg agagagtttt aggttttcct cctttttgtt ttgtataaat
     8401 agtgggtata agcatagctc tgttacatgg atgtattaca aagtgggggc tgagctttta
     8461 gtgtgatcat cacccaaata gtgtacattg tacccattaa ttaatttctt atcacctgac
     8521 cctatttttg ttttctcata ccaagaaact tcctaagtta accatcaaaa ttagtccttc
     8581 tgtcatctct cttagcatac ttatttccct tatgtgatgc ctaataatga gggaacataa
     8641 ataaagccaa attcaaagat ga
//
LOCUS       NM_000265               1349 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens neutrophil cytosolic factor 1 (NCF1), mRNA.
ACCESSION   NM_000265
VERSION     NM_000265.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1349)
  AUTHORS   Deng X, Sang Q, Zhang R, Mu J and Bao S.
  TITLE     The association of APOH and NCF1 polymorphisms on susceptibility to
            recurrent pregnancy loss in women with antiphospholipid syndrome
  JOURNAL   J Assist Reprod Genet 40 (7), 1703-1712 (2023)
   PUBMED   37243946
  REMARK    GeneRIF: The association of APOH and NCF1 polymorphisms on
            susceptibility to recurrent pregnancy loss in women with
            antiphospholipid syndrome.
REFERENCE   2  (bases 1 to 1349)
  AUTHORS   Tlili A, Pintard C, Hurtado-Nedelec M, Liu D, Marzaioli V,
            Thieblemont N, Dang PM and El-Benna J.
  TITLE     ROCK2 interacts with p22phox to phosphorylate p47phox and to control
            NADPH oxidase activation in human monocytes
  JOURNAL   Proc Natl Acad Sci U S A 120 (3), e2209184120 (2023)
   PUBMED   36626553
  REMARK    GeneRIF: ROCK2 interacts with p22phox to phosphorylate p47phox and
            to control NADPH oxidase activation in human monocytes.
REFERENCE   3  (bases 1 to 1349)
  AUTHORS   Belambri SA, Marzaioli V, Hurtado-Nedelec M, Pintard C, Liang S, Liu
            Y, Boussetta T, Gougerot-Pocidalo MA, Ye RD, Dang PM and El-Benna J.
  TITLE     Impaired p47phox phosphorylation in neutrophils from patients with
            p67phox-deficient chronic granulomatous disease
  JOURNAL   Blood 139 (16), 2512-2522 (2022)
   PUBMED   35108370
  REMARK    GeneRIF: Impaired p47phox phosphorylation in neutrophils from
            patients with p67phox-deficient chronic granulomatous disease.
REFERENCE   4  (bases 1 to 1349)
  AUTHORS   Chen Y, He F, Wang R, Yao M, Li Y, Guo D and He S.
  TITLE     NCF1/2/4 Are Prognostic Biomarkers Related to the Immune
            Infiltration of Kidney Renal Clear Cell Carcinoma
  JOURNAL   Biomed Res Int 2021, 5954036 (2021)
   PUBMED   34708124
  REMARK    GeneRIF: NCF1/2/4 Are Prognostic Biomarkers Related to the Immune
            Infiltration of Kidney Renal Clear Cell Carcinoma. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 1349)
  AUTHORS   Leiding,J.W. and Holland,S.M.
  TITLE     Chronic Granulomatous Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   22876374
REFERENCE   6  (bases 1 to 1349)
  AUTHORS   Morris,C.A.
  TITLE     Williams Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301427
REFERENCE   7  (bases 1 to 1349)
  AUTHORS   Casimir CM, Bu-Ghanim HN, Rodaway AR, Bentley DL, Rowe P and Segal
            AW.
  TITLE     Autosomal recessive chronic granulomatous disease caused by deletion
            at a dinucleotide repeat
  JOURNAL   Proc Natl Acad Sci U S A 88 (7), 2753-2757 (1991)
   PUBMED   2011585
REFERENCE   8  (bases 1 to 1349)
  AUTHORS   Rodaway AR, Teahan CG, Casimir CM, Segal AW and Bentley DL.
  TITLE     Characterization of the 47-kilodalton autosomal chronic
            granulomatous disease protein: tissue-specific expression and
            transcriptional control by retinoic acid
  JOURNAL   Mol Cell Biol 10 (10), 5388-5396 (1990)
   PUBMED   2398896
REFERENCE   9  (bases 1 to 1349)
  AUTHORS   Volpp BD, Nauseef WM, Donelson JE, Moser DR and Clark RA.
  TITLE     Cloning of the cDNA and functional expression of the 47-kilodalton
            cytosolic component of human neutrophil respiratory burst oxidase
  JOURNAL   Proc Natl Acad Sci U S A 86 (18), 7195-7199 (1989)
   PUBMED   2550933
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1989 Dec;86(23):9563]
REFERENCE   10  (bases 1 to 1349)
  AUTHORS   Lomax KJ, Leto TL, Nunoi H, Gallin JI and Malech HL.
  TITLE     Recombinant 47-kilodalton cytosol factor restores NADPH oxidase in
            chronic granulomatous disease
  JOURNAL   Science 245 (4916), 409-412 (1989)
   PUBMED   2547247
  REMARK    Erratum:[Science 1989 Nov 24;246(4933):987]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK223217.1, BC002816.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000289473.11/ ENSP00000289473.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC211433.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 10, 2021 this sequence version replaced NM_000265.6.
            Summary: The protein encoded by this gene is a 47 kDa cytosolic
            subunit of neutrophil NADPH oxidase. This oxidase is a
            multicomponent enzyme that is activated to produce superoxide
            anion. Mutations in this gene have been associated with chronic
            granulomatous disease. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1349
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..1349
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF1A; NOXO2; p47phox; SH3PXD1A"
                     /note="neutrophil cytosolic factor 1"
                     /db_xref="GeneID:653361"
                     /db_xref="HGNC:HGNC:7660"
                     /db_xref="MIM:608512"
     CDS             22..1194
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF1A; NOXO2; p47phox; SH3PXD1A"
                     /note="NADPH oxidase organizer 2; neutrophil cytosolic
                     factor 1, (chronic granulomatous disease, autosomal 1);
                     NCF-1; NCF-47K; p47-phox; nox organizer 2; nox-organizing
                     protein 2; 47 kDa neutrophil oxidase factor; neutrophil
                     NADPH oxidase factor 1; SH3 and PX domain-containing
                     protein 1A; 47 kDa autosomal chronic granulomatous disease
                     protein"
                     /codon_start=1
                     /product="neutrophil cytosol factor 1"
                     /protein_id="NP_000256.4"
                     /db_xref="CCDS:CCDS34657.1"
                     /db_xref="GeneID:653361"
                     /db_xref="HGNC:HGNC:7660"
                     /db_xref="MIM:608512"
                     /translation="MGDTFIRHIALLGFEKRFVPSQHYVYMFLVKWQDLSEKVVYRRFT
                     EIYEFHKTLKEMFPIEAGAINPENRIIPHLPAPKWFDGQRAAENRQGTLTEYCSTLMSL
                     PTKISRCPHLLDFFKVRPDDLKLPTDNQTKKPETYLMPKDGKSTATDITGPIILQTYRA
                     IANYEKTSGSEMALSTGDVVEVVEKSESGWWFCQMKAKRGWIPASFLEPLDSPDETEDP
                     EPNYAGEPYVAIKAYTAVEGDEVSLLEGEAVEVIHKLLDGWWVIRKDDVTGYFPSMYLQ
                     KSGQDVSQAQRQIKRGAPPRRSSIRNAHSIHQRSRKRLSQDAYRRNSVRFLQQRRRQAR
                     PGPQSPGSPLEEERQTQRSKPQPAVPPRPSADLILNRCSESTKRKLASAV"
     misc_feature    874..1191
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF1A; NOXO2; p47phox; SH3PXD1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P14598.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    928..930
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF1A; NOXO2; p47phox; SH3PXD1A"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:8089108;
                     propagated from UniProtKB/Swiss-Prot (P14598.4);
                     phosphorylation site"
     misc_feature    931..933
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF1A; NOXO2; p47phox; SH3PXD1A"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:8089108;
                     propagated from UniProtKB/Swiss-Prot (P14598.4);
                     phosphorylation site"
     misc_feature    979..981
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF1A; NOXO2; p47phox; SH3PXD1A"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:8089108;
                     propagated from UniProtKB/Swiss-Prot (P14598.4);
                     phosphorylation site"
     misc_feature    1003..1005
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF1A; NOXO2; p47phox; SH3PXD1A"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:8089108;
                     propagated from UniProtKB/Swiss-Prot (P14598.4);
                     phosphorylation site"
     misc_feature    1054..1056
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF1A; NOXO2; p47phox; SH3PXD1A"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:8089108;
                     propagated from UniProtKB/Swiss-Prot (P14598.4);
                     phosphorylation site"
     misc_feature    1063..1065
                     /gene="NCF1"
                     /gene_synonym="CGD1; NCF1A; NOXO2; p47phox; SH3PXD1A"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:8089108;
                     propagated from UniProtKB/Swiss-Prot (P14598.4);
                     phosphorylation site"
ORIGIN
        1 agcactggag gccacccagt catgggggac accttcatcc gtcacatcgc cctgctgggc
       61 tttgagaagc gcttcgtacc cagccagcac tatgtgtaca tgttcctggt gaaatggcag
      121 gacctgtcgg agaaggtggt ctaccggcgc ttcaccgaga tctacgagtt ccataaaacc
      181 ttaaaagaaa tgttccctat tgaggcaggg gcgatcaatc cagagaacag gatcatcccc
      241 cacctcccag ctcccaagtg gtttgacggg cagcgggccg ccgagaaccg ccagggcaca
      301 cttaccgagt actgcagcac gctcatgagc ctgcccacca agatctcccg ctgtccccac
      361 ctcctcgact tcttcaaggt gcgccctgat gacctcaagc tccccacgga caaccagaca
      421 aaaaagccag agacatactt gatgcccaaa gatggcaaga gtaccgcgac agacatcacc
      481 ggccccatca tcctgcagac gtaccgcgcc attgccaact acgagaagac ctcgggctcc
      541 gagatggctc tgtccacggg ggacgtggtg gaggtcgtag agaagagcga gagcggttgg
      601 tggttctgtc agatgaaagc aaagcgaggc tggatcccag cgtccttcct cgagcccctg
      661 gacagtcctg acgagacgga agaccctgag cccaactatg caggtgagcc atacgtcgcc
      721 atcaaggcct acactgctgt ggagggggac gaggtgtccc tgctcgaggg tgaagctgtt
      781 gaggtcattc acaagctcct ggacggctgg tgggtcatca ggaaagacga cgtcacaggc
      841 tacttcccgt ccatgtacct gcaaaagtca gggcaagacg tgtcccaggc ccaacgccag
      901 atcaagcggg gggcgccgcc ccgcaggtcg tccatccgca acgcgcacag catccaccag
      961 cggtcgcgga agcgcctcag ccaggacgcc tatcgccgca acagcgtccg ttttctgcag
     1021 cagcgacgcc gccaggcgcg gccgggaccg cagagccccg ggagcccgct cgaggaggag
     1081 cggcagacgc agcgctctaa accgcagccg gcggtgcccc cgcggccgag cgccgacctc
     1141 atcctgaacc gctgcagcga gagcaccaag cggaagctgg cgtctgccgt ctgaggctgg
     1201 agcgcagtcc ccagctagcg tctcggccct tgccgccccg tgcctgtata tacgtgttct
     1261 atagagcctg gcgtctggac gccgagggca gccccgaccc ctgtccagcg cggctcccgc
     1321 caccctcaat aaatgttgct tggagtgga
//
LOCUS       NM_000266               1719 bp    mRNA    linear   PRI 15-MAY-2023
DEFINITION  Homo sapiens norrin cystine knot growth factor NDP (NDP), mRNA.
ACCESSION   NM_000266
VERSION     NM_000266.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1719)
  AUTHORS   Zhao R, Dai E, Wang S, Zhang X, He Y, Peng L, Zhao P, Yang Z, Yang M
            and Li S.
  TITLE     A comprehensive functional analysis on the pathogenesis of novel
            TSPAN12 and NDP variants in familial exudative vitreoretinopathy
  JOURNAL   Clin Genet 103 (3), 320-329 (2023)
   PUBMED   36453149
  REMARK    GeneRIF: A comprehensive functional analysis on the pathogenesis of
            novel TSPAN12 and NDP variants in familial exudative
            vitreoretinopathy.
REFERENCE   2  (bases 1 to 1719)
  AUTHORS   Trang DT, Phu NM, Hung DM, Nhung VP, Ha NN, Thuong MTH, Ngoc TTB,
            Hiep NX, Ton ND, Hai NV and Ha NH.
  TITLE     Whole exome sequencing revealed novel pathogenic variants in
            Vietnamese patients with FEVR
  JOURNAL   Mol Vis 28, 480-491 (2022)
   PUBMED   37089697
  REMARK    GeneRIF: Whole exome sequencing revealed novel pathogenic variants
            in Vietnamese patients with FEVR. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1719)
  AUTHORS   Zhao X, Gao C, Li L, Jiang L, Wei Y, Che F and Liu Q.
  TITLE     Clinical Exome Sequencing Identifies NDP Gene Variants in Two
            Chinese Families with X-Linked Norrie Disease
  JOURNAL   Genet Test Mol Biomarkers 26 (12), 589-594 (2022)
   PUBMED   36577125
  REMARK    GeneRIF: Clinical Exome Sequencing Identifies NDP Gene Variants in
            Two Chinese Families with X-Linked Norrie Disease.
REFERENCE   4  (bases 1 to 1719)
  AUTHORS   Perez-Vilar J and Hill RL.
  TITLE     Norrie disease protein (norrin) forms disulfide-linked oligomers
            associated with the extracellular matrix
  JOURNAL   J Biol Chem 272 (52), 33410-33415 (1997)
   PUBMED   9407136
REFERENCE   5  (bases 1 to 1719)
  AUTHORS   Meitinger T, Meindl A, Bork P, Rost B, Sander C, Haasemann M and
            Murken J.
  TITLE     Molecular modelling of the Norrie disease protein predicts a cystine
            knot growth factor tertiary structure
  JOURNAL   Nat Genet 5 (4), 376-380 (1993)
   PUBMED   8298646
REFERENCE   6  (bases 1 to 1719)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301552
REFERENCE   7  (bases 1 to 1719)
  AUTHORS   Scruggs,B.A., Reding,M.Q. and Schimmenti,L.A.
  TITLE     NDP-Related Retinopathies
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301506
REFERENCE   8  (bases 1 to 1719)
  AUTHORS   Berger,W., Meindl,A., van de Pol,T.J., Cremers,F.P., Ropers,H.H.,
            Doerner,C., Monaco,A., Bergen,A.A., Lebo,R., Warburgh,M. et al.
  TITLE     Isolation of a candidate gene for Norrie disease by positional
            cloning
  JOURNAL   Nat Genet 2 (1), 84 (1992)
   PUBMED   1303256
  REMARK    Correction to:[Nat Genet. 1992 Jun;1(3):199-203. PMID: 1303235]
REFERENCE   9  (bases 1 to 1719)
  AUTHORS   Chen ZY, Hendriks RW, Jobling MA, Powell JF, Breakefield XO, Sims KB
            and Craig IW.
  TITLE     Isolation and characterization of a candidate gene for Norrie
            disease
  JOURNAL   Nat Genet 1 (3), 204-208 (1992)
   PUBMED   1303236
REFERENCE   10  (bases 1 to 1719)
  AUTHORS   Berger W, Meindl A, van de Pol TJ, Cremers FP, Ropers HH, Doerner C,
            Monaco A, Bergen AA, Lebo R, Warburg M et al.
  TITLE     Isolation of a candidate gene for Norrie disease by positional
            cloning
  JOURNAL   Nat Genet 1 (3), 199-203 (1992)
   PUBMED   1303235
  REMARK    Erratum:[Nat Genet. 1992 Sep;2(1):84. PMID: 1303256]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1017256.1,
            SRR3476690.582694.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2153427,
            SAMEA2155371 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000642620.1/ ENSP00000495972.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X65882.1 and BC029901.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000266.3.
            Summary: This gene encodes a secreted protein with a cystein-knot
            motif that activates the Wnt/beta-catenin pathway. The protein
            forms disulfide-linked oligomers in the extracellular matrix.
            Mutations in this gene result in Norrie disease and X-linked
            exudative vitreoretinopathy. [provided by RefSeq, Feb 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1719
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.3"
     gene            1..1719
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /note="norrin cystine knot growth factor NDP"
                     /db_xref="GeneID:4693"
                     /db_xref="HGNC:HGNC:7678"
                     /db_xref="MIM:300658"
     misc_feature    217..219
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /note="upstream in-frame stop codon"
     CDS             295..696
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /note="norrin; Norrie disease (pseudoglioma); norrie
                     disease protein; X-linked exudative vitreoretinopathy 2
                     protein; NDP, norrin cystine knot growth factor"
                     /codon_start=1
                     /product="norrin precursor"
                     /protein_id="NP_000257.1"
                     /db_xref="CCDS:CCDS14262.1"
                     /db_xref="GeneID:4693"
                     /db_xref="HGNC:HGNC:7678"
                     /db_xref="MIM:300658"
                     /translation="MRKHVLAASFSMLSLLVIMGDTDSKTDSSFIMDSDPRRCMRHHYV
                     DSISHPLYKCSSKMVLLARCEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLK
                     ALRLRCSGGMRLTATYRYILSCHCEECNS"
     sig_peptide     295..366
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     367..693
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /product="norrin"
     regulatory      1698..1703
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /note="hexamer: AATAAA"
     polyA_site      1719
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /note="major polyA site"
ORIGIN
        1 agaagaacaa aagcatttgg aagtaacagg acctctttct agctctcaga aaagtctgag
       61 aagaaaggag ccctgcgttc ccctaagctg tgcagcagat actgtgatga tggattgcaa
      121 gtgcaaagag taagacaaaa ctccagcaca taaaggacaa tgacaaccag aaagcttcag
      181 cccgatcctg ccctttcctt gaacgggact ggatcctagg aggtgaagcc atttccaatt
      241 ttttgtcctc tgcctccctc tgctgttctt ctagagaagt ttttccttac aacaatgaga
      301 aaacatgtac tagctgcatc cttttctatg ctctccctgc tggtgataat gggagataca
      361 gacagtaaaa cggacagctc attcataatg gactcggacc ctcgacgctg catgaggcac
      421 cactatgtgg attctatcag tcacccattg tacaagtgta gctcaaagat ggtgctcctg
      481 gccaggtgcg aggggcactg cagccaggcg tcacgctccg agcctttggt gtcgttcagc
      541 actgtcctca agcaaccctt ccgttcctcc tgtcactgct gccggcccca gacttccaag
      601 ctgaaggcac tgcggctgcg atgctcaggg ggcatgcgac tcactgccac ctaccggtac
      661 atcctctcct gtcactgcga ggaatgcaat tcctgaggcc cgctgctgtg tgtggcttct
      721 ggatgggaca actgtagagg cagttcgacc agccagggaa agactggcaa gaaaagagtt
      781 aaggcaaaaa aggatgcaac aattctcccg ggactctgca tattctagta ataaagactc
      841 tacatgcttg ttgacagaga gagatactct gggaacttct ttgcagttcc catctccttt
      901 ctctggtaca atttcttttg gttcattttc agattcaggc attttccccc ttggctctca
      961 atgctgtttg ggtttccaac aattcagcat tagtgggaaa aagtgggccc tcatacacaa
     1021 gcgtgtcagg ctgtcagtgt ttggtgcacg ctggggaaga atttactttg gaaagtagaa
     1081 aagcccagct tttcctggga catcttctgt tattgttgat gttttttttt accttgtcat
     1141 tttggtctaa ggttgccatt gctgctaaag gttaccgatt tcaaagtcca gataccaagc
     1201 atgtggatat gtttagctac gtttactcac agccagcgaa ctgacattaa aataactaac
     1261 aaacagattc ttttatgtga tgctggaact cttgacagct ataattatta ttcagaaatg
     1321 actttttgaa agtaaaagca gcataaagaa tttgtcacag gaaggctgtc tcagataaat
     1381 tatggtaaaa ttttgtaagg gagcagactt ttaaagactt gcacaaatac ggatcctgca
     1441 ctgactctgg aaaaggcata tatgtactag tggcatggag aatgcaccat actcatgcat
     1501 gcaaattaga caaccaagta tgaatctatt tgtgggtgtg ctatagcttt agccgtgtca
     1561 cgggcatcat tctctaatat ccacttgtcc atgtgaaaca tgttgccaaa atggtggcct
     1621 ggcttgtctt ctgaacgttt ggttcaaatg tgttttggtc ctggaggctc aaattttgag
     1681 ttattcccac gttttgaaat aaaaagagta tattcaaaa
//
LOCUS       NM_000268               5950 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens NF2, moesin-ezrin-radixin like (MERLIN) tumor
            suppressor (NF2), transcript variant 1, mRNA.
ACCESSION   NM_000268
VERSION     NM_000268.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5950)
  AUTHORS   Bhattacharyya S, Oblinger JL, Beauchamp RL, Yin Z, Erdin S,
            Koundinya P, Ware AD, Ferrer M, Jordan JT, Plotkin SR, Xu L, Chang
            LS and Ramesh V.
  TITLE     Proteasomal pathway inhibition as a potential therapy for
            NF2-associated meningioma and schwannoma
  JOURNAL   Neuro Oncol 25 (9), 1617-1630 (2023)
   PUBMED   36806881
  REMARK    GeneRIF: Proteasomal pathway inhibition as a potential therapy for
            NF2-associated meningioma and schwannoma.
REFERENCE   2  (bases 1 to 5950)
  AUTHORS   Hacking SM, Pavlick D, Wang Y, Carneiro BA, Mullally M, Lu S, Canepa
            M, Bratslavsky G, Jacob J, Necchi A, Spiess PE, Wang L, Yakirevich E
            and Ross J.
  TITLE     Comprehensive Genomic Profiling of NF2-Mutated Kidney Tumors Reveals
            Potential Targets for Therapy
  JOURNAL   Oncologist 28 (7), e508-e519 (2023)
   PUBMED   36917021
  REMARK    GeneRIF: Comprehensive Genomic Profiling of NF2-Mutated Kidney
            Tumors Reveals Potential Targets for Therapy.
REFERENCE   3  (bases 1 to 5950)
  AUTHORS   Oishi N, Noguchi M, Fujioka M, Nara K, Wasano K, Mutai H, Kawakita
            R, Tamura R, Karatsu K, Morimoto Y, Toda M, Ozawa H and Matsunaga T.
  TITLE     Correlation between genotype and phenotype with special attention to
            hearing in 14 Japanese cases of NF2-related schwannomatosis
  JOURNAL   Sci Rep 13 (1), 6595 (2023)
   PUBMED   37087513
  REMARK    GeneRIF: Correlation between genotype and phenotype with special
            attention to hearing in 14 Japanese cases of NF2-related
            schwannomatosis. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5950)
  AUTHORS   Hennigan RF, Thomson CS, Stachowski K, Nassar N and Ratner N.
  TITLE     Merlin tumor suppressor function is regulated by PIP2-mediated
            dimerization
  JOURNAL   PLoS One 18 (2), e0281876 (2023)
   PUBMED   36809290
  REMARK    GeneRIF: Merlin tumor suppressor function is regulated by
            PIP2-mediated dimerization. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5950)
  AUTHORS   Vasan V, Dullea JT, Devarajan A, Ali M, Rutland JW, Gill CM,
            Kinoshita Y, McBride RB, Gliedman P, Bederson J, Donovan M, Sebra R,
            Umphlett M and Shrivastava RK.
  TITLE     NF2 mutations are associated with resistance to radiation therapy
            for grade 2 and grade 3 recurrent meningiomas
  JOURNAL   J Neurooncol 161 (2), 309-316 (2023)
   PUBMED   36436149
  REMARK    GeneRIF: NF2 mutations are associated with resistance to radiation
            therapy for grade 2 and grade 3 recurrent meningiomas.
REFERENCE   6  (bases 1 to 5950)
  AUTHORS   den Bakker MA, Tascilar M, Riegman PH, Hekman AC, Boersma W, Janssen
            PJ, de Jong TA, Hendriks W, van der Kwast TH and Zwarthoff EC.
  TITLE     Neurofibromatosis type 2 protein co-localizes with elements of the
            cytoskeleton
  JOURNAL   Am J Pathol 147 (5), 1339-1349 (1995)
   PUBMED   7485397
REFERENCE   7  (bases 1 to 5950)
  AUTHORS   Evans DG, Bourn D, Wallace A, Ramsden RT, Mitchell JD and Strachan
            T.
  TITLE     Diagnostic issues in a family with late onset type 2
            neurofibromatosis
  JOURNAL   J Med Genet 32 (6), 470-474 (1995)
   PUBMED   7666400
REFERENCE   8  (bases 1 to 5950)
  AUTHORS   Honda M, Arai E, Sawada S, Ohta A and Niimura M.
  TITLE     Neurofibromatosis 2 and neurilemmomatosis gene are identical
  JOURNAL   J Invest Dermatol 104 (1), 74-77 (1995)
   PUBMED   7798645
REFERENCE   9  (bases 1 to 5950)
  AUTHORS   Evans,D.G.
  TITLE     NF2-Related Schwannomatosis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301380
REFERENCE   10  (bases 1 to 5950)
  AUTHORS   Arai E, Ikeuchi T, Karasawa S, Tamura A, Yamamoto K, Kida M,
            Ichimura K, Yuasa Y and Tonomura A.
  TITLE     Constitutional translocation t(4;22) (q12;q12.2) associated with
            neurofibromatosis type 2
  JOURNAL   Am J Med Genet 44 (2), 163-167 (1992)
   PUBMED   1456285
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF369657.1, SRR18074967.1749160.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000338641.10/ ENSP00000344666.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF369657.1 and AC004882.3.
            On Nov 13, 2019 this sequence version replaced NM_000268.3.
            Summary: This gene encodes a protein that is similar to some
            members of the ERM (ezrin, radixin, moesin) family of proteins that
            link cytoskeletal components with proteins in the cell membrane.
            The encoded protein is involved in regulation of contact-dependent
            inhibition of cell proliferation and functions in cell-cell
            adhesion and transmembrane signaling. The encoded protein has been
            shown to interact with cell-surface proteins, proteins involved in
            cytoskeletal dynamics, and proteins involved in regulating ion
            transport. Disruption of this protein's function has been
            implicated in tumorigenesis and metastasis. Mutations in this gene
            are associated with neurofibromatosis type II which is
            characterized by nervous system and skin tumors and ocular
            abnormalities. [provided by RefSeq, May 2022].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5950
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..5950
                     /gene="NF2"
                     /gene_synonym="ACN; BANF; merlin-1; SCH; SWNV"
                     /note="NF2, moesin-ezrin-radixin like (MERLIN) tumor
                     suppressor"
                     /db_xref="GeneID:4771"
                     /db_xref="HGNC:HGNC:7773"
                     /db_xref="MIM:607379"
     misc_feature    280..282
                     /gene="NF2"
                     /gene_synonym="ACN; BANF; merlin-1; SCH; SWNV"
                     /note="upstream in-frame stop codon"
     CDS             367..2154
                     /gene="NF2"
                     /gene_synonym="ACN; BANF; merlin-1; SCH; SWNV"
                     /note="isoform 1 is encoded by transcript variant 1;
                     moesin-ezrin-radixin like; neurofibromin 2 (bilateral
                     acoustic neuroma); schwannomin; moesin-ezrin-radizin-like
                     protein; schwannomerlin; merlin; moesin-ezrin-radixin-like
                     protein; neurofibromin-2; bilateral acoustic
                     neurofibromatosis"
                     /codon_start=1
                     /product="merlin isoform 1"
                     /protein_id="NP_000259.1"
                     /db_xref="CCDS:CCDS13861.1"
                     /db_xref="GeneID:4771"
                     /db_xref="HGNC:HGNC:7773"
                     /db_xref="MIM:607379"
                     /translation="MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEMKWKGKD
                     LFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKKVLDHDVSKEEPVTFHFLAKFYPEN
                     AEEELVQEITQHLFFLQVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKRGFL
                     AQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYF
                     AIRNKKGTELLLGVDALGLHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKID
                     VFKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQMKAQAREEKARKQMERQRLA
                     REKQMREEAERTRDELERRLLQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLA
                     QKAAEAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDL
                     QEAREAERRAKQKLLEIATKPTYPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRL
                     SMEIEKEKVEYMEKSKHLQEQLNELKTEIEALKLKERETALDILHNENSDRGGSSKHNT
                     IKKLTLQSAKSRVAFFEEL"
     misc_feature    403..405
                     /gene="NF2"
                     /gene_synonym="ACN; BANF; merlin-1; SCH; SWNV"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P35240.1); phosphorylation site"
     misc_feature    1918..1920
                     /gene="NF2"
                     /gene_synonym="ACN; BANF; merlin-1; SCH; SWNV"
                     /note="Phosphoserine, by PAK.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (P35240.1); phosphorylation site"
     regulatory      5928..5933
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NF2"
                     /gene_synonym="ACN; BANF; merlin-1; SCH; SWNV"
                     /note="hexamer: AATAAA"
     polyA_site      5950
                     /gene="NF2"
                     /gene_synonym="ACN; BANF; merlin-1; SCH; SWNV"
                     /note="major polyA site"
ORIGIN
        1 gtgaccctag tcggccgctg agaggcgcgc ggagtctggg ccgctgccgt ctaggggtcc
       61 cgtcccgagg cgtccccggc atctccggcc cgaatcccgg agtgccgggt cgcgcctgca
      121 ccgaaggtcc cggctcctgt gccctccctg cagccgtcag ggcccgtccc ccaactcccc
      181 tttccgctca ggcagggtcc tcgcggccca tgctggccgc tggggacccg cgcagcccag
      241 accgttcccg ggccgggcag ccggccacca tggtggccct gaggcctgtg cagcaactcc
      301 aggggggcta aagggctcag agtgcaggcc gtggggcgcg agggtcccgg gcctgagccc
      361 cgcgccatgg ccggggccat cgcttcccgc atgagcttca gctctctcaa gaggaagcaa
      421 cccaagacgt tcaccgtgag gatcgtcacc atggacgccg agatggagtt caattgcgag
      481 atgaagtgga aagggaagga cctctttgat ttggtgtgcc ggactctggg gctccgagaa
      541 acctggttct ttggactgca gtacacaatc aaggacacag tggcctggct caaaatggac
      601 aagaaggtac tggatcatga tgtttcaaag gaagaaccag tcacctttca cttcttggcc
      661 aaattttatc ctgagaatgc tgaagaggag ctggttcagg agatcacaca acatttattc
      721 ttcttacagg taaagaagca gattttagat gaaaagatct actgccctcc tgaggcttct
      781 gtgctcctgg cttcttacgc cgtccaggcc aagtatggtg actacgaccc cagtgttcac
      841 aagcggggat ttttggccca agaggaattg cttccaaaaa gggtaataaa tctgtatcag
      901 atgactccgg aaatgtggga ggagagaatt actgcttggt acgcagagca ccgaggccga
      961 gccagggatg aagctgaaat ggaatatctg aagatagctc aggacctgga gatgtacggt
     1021 gtgaactact ttgcaatccg gaataaaaag ggcacagagc tgctgcttgg agtggatgcc
     1081 ctggggcttc acatttatga ccctgagaac agactgaccc ccaagatctc cttcccgtgg
     1141 aatgaaatcc gaaacatctc gtacagtgac aaggagttta ctattaaacc actggataag
     1201 aaaattgatg tcttcaagtt taactcctca aagcttcgtg ttaataagct gattctccag
     1261 ctatgtatcg ggaaccatga tctatttatg aggagaagga aagccgattc tttggaagtt
     1321 cagcagatga aagcccaggc cagggaggag aaggctagaa agcagatgga gcggcagcgc
     1381 ctcgctcgag agaagcagat gagggaggag gctgaacgca cgagggatga gttggagagg
     1441 aggctgctgc agatgaaaga agaagcaaca atggccaacg aagcactgat gcggtctgag
     1501 gagacagctg acctgttggc tgaaaaggcc cagatcaccg aggaggaggc aaaacttctg
     1561 gcccagaagg ccgcagaggc tgagcaggaa atgcagcgca tcaaggccac agcgattcgc
     1621 acggaggagg agaagcgcct gatggagcag aaggtgctgg aagccgaggt gctggcactg
     1681 aagatggctg aggagtcaga gaggagggcc aaagaggcag atcagctgaa gcaggacctg
     1741 caggaagcac gcgaggcgga gcgaagagcc aagcagaagc tcctggagat tgccaccaag
     1801 cccacgtacc cgcccatgaa cccaattcca gcaccgttgc ctcctgacat accaagcttc
     1861 aacctcattg gtgacagcct gtctttcgac ttcaaagata ctgacatgaa gcggctttcc
     1921 atggagatag agaaagaaaa agtggaatac atggaaaaga gcaagcatct gcaggagcag
     1981 ctcaatgaac tcaagacaga aatcgaggcc ttgaaactga aagagaggga gacagctctg
     2041 gatattctgc acaatgagaa ctccgacagg ggtggcagca gcaagcacaa taccattaaa
     2101 aagctcacct tgcagagcgc caagtcccga gtggccttct ttgaagagct ctagcaggtg
     2161 acccagccac cccaggacct gccacttctc ctgctaccgg gaccgcggga tggaccagat
     2221 atcaagagag ccatccatag ggagctggct gggggtttcc gtgggagctc cagaactttc
     2281 cccagctgag tgaagagccc agcccctctt atgtgcaatt gccttgaact acgaccctgt
     2341 agagatttct ctcatggcgt tctagttctc tgacctgagt ctttgtttta agaagtattt
     2401 gtcttccttt gtctaatgtg ggattcctga ctcccttcgt ccaaggcacc ggtgtgtgtg
     2461 tgtcttgcac tccagagctg acctccaccg cccagcctgg gaagtcattg tagggagtga
     2521 gacactgaag ccctgagaag ccagtgccat catccccacc ccgcccaggg ttccggaaca
     2581 ttcattcccc caccggtgag gacctggcat gcagcgaagc agcccagccc ggcggatccc
     2641 aggccagcac gcctgccggc ttctcatcgt cagggagccc gcccagagct cgtgacgagc
     2701 aagtgctggg tccccgccag gcaccccgag gcggcgctct ggctggcagc tggtggggaa
     2761 taggcagggc agctgtggct ggggagagac tttaggcaga agctgtgatg caggctgact
     2821 gccagccgag gggctgggta gtgccgtgcg ggagctgatg gtacagggca ctcgctgtcc
     2881 ccctccggcc accctagacc agggtccgag aggcaggcag gagccactca tgtcttcccc
     2941 attgcccgac gcccatagac gctccttcct gtgtggggct ggggtactcc ctggtcgtac
     3001 tgcagtcagc acccgtaacc cggctatgac cagggatctg taagccctgt ggctccacag
     3061 gtgctgcttc tcactggccc agactctgag ctccaccggc ccagtctgca cggcccatct
     3121 gcttcacctt ccctcccagc cacgtgccag tggccacagc ccacttccca acccactgtt
     3181 gtacccaggc ctcactttgc tgttgccctt gtccctcttc gggccctgaa ttttctgttc
     3241 cctgggggcc agccagggcc ctttgtgccc ctcccagcac aggcctgatg caggtgtcca
     3301 ctcacaggtg gcgctcacct aggctgtcac aggacccacc tccatgccag gcaacagagg
     3361 gccacagaac cacccccacg gctcactcct tggtctgggg ccaccttctt gccctttctt
     3421 tttttttttt tttttttttt tccgagatgg agtctctctc tgtcacccag gtgggagtgt
     3481 ggtggcacaa tctcggctca ctgcaacctc cacctcctga gttcaagcaa ttctcctgcc
     3541 tcagcctccc aagtagctgg gactacaggc atgcaccacc acacttggcc aatgttctgt
     3601 atttttaata gggacggggt tttgccatgt tagctaggct ggtctcaaac tcacacctgg
     3661 gattacaggc atgagccact gcacccagcc ccttcttgcc ctttcttttc tccatggctg
     3721 atgctgctgt ggccagccag ggcccttgag atccttccag tttggctgtt atgcaaagca
     3781 ggtgatttgt cttaatcaga taaaagatag aggctatggg ggcctcaaga tttttggaga
     3841 gcagaggtgg tctctggcaa ttccatctgg ttttgagaaa cttagcagct cacagagcac
     3901 agagatcctg ccttcttcct actatcaggc tgacctaatg gggttgggct gctcggcaac
     3961 tgcttgggtc accttgcccc aaggaaacca gccctgggtg ccacccagcc acttagggtc
     4021 tacagggtgg gactccagac ctagagcgta agtatggatg ttgtggccct gtgtcttcct
     4081 agtgtgaccc agccaggagc ggaagcttca ggcgtttgta aagtgaggtc tggctctgcc
     4141 tcctccgttt tttttttttt tctgtttctg tttctgtttt ttttttgaga tggagtctcg
     4201 ctctgtcgcc caggctggag tgcagtgtca cgatctcagc tcactgcaac ctccgcctcc
     4261 caggtacaag agattctcct gcctcagcct cccgagtagc tgggactaca ggcgtgtgcc
     4321 accatgcctg gctaattttt gtatttttag tagagatggg gtttcgccat gttagccaga
     4381 ctggtctcga actcctgacc tcaggtgatc ctcccacccc ggcttcccaa agttctggga
     4441 ttataggcgt gagccaccat gcccggtctc ttctcagtct tgaagcccat ccctggattt
     4501 ccaccaggag ttactttcct cctgacctgt aaatttgttc tttaacaatg gctgcaggtg
     4561 ggagcatatg gtggtttata aaaacgctgt cgggctttgt ttccttcttt agctgccgtg
     4621 tctacttctg aagtctggga agtgccaagc cacgcggcct caagggagct ggctggtgtt
     4681 tgagctgtgg cagaagcacc tggggctcca gggagcaggc tgggaactgc aggaccttgc
     4741 tcagccagga gcacttcccc ctccttgagg caggaatact gaggtgcctc cccacagatg
     4801 gagaaggtgg agaggaggat gggcctcagg agcatctcaa gccccagtag caggagaaag
     4861 aaagaaagag atgcctggtt ttcacagact ggttcctgtg gctgggatga ctgcatcctt
     4921 tttttttttt ttttgagacg gagtttttgc ctttgtcgcc caggctggag tgcaatggcg
     4981 tgatctcggc tcaccgcaac ctccgcctcc cggattcaag caattctcct gcctcagcct
     5041 cccgagtagc tgggattaca ggcacgcacc tccacgtccg gctaattttg tatttttagt
     5101 ggagacgggg tttctccatg tcggtcaggc tggtctcgaa ctcccgacct caggtgatct
     5161 gcccacctcg gcctcccaaa gtgctgggat tacaggcatg agccaccgcg cttggccaga
     5221 ctgcgtcctt tttaagcgaa cattttaggg cctgggagtt tgtcaagtaa ggaagtctca
     5281 agcccaaaga gcagcgtcct gaccatggtg gtttcattac gagcccttct gctggctctc
     5341 aggcagaagc cccacagcac cgggaccatt catgaggtca ctgcccagct catgatgtcc
     5401 gtgaggctgt ccttttggcc agtagccgtg tgcagctgtg tggcacagat ggcttcgttc
     5461 atcctgatca aggccccacc tcagccacag cagtcccccc aacctgtgtt gtccacccta
     5521 ttattcatgt acctgccagg ccctgctaga tagcaccccg tggcattaca taacacttca
     5581 tgagtggctg tgtcttgtaa ttttggggac aggtttctct ctttccctct cttttttttg
     5641 tcaaaagccc agagactgac aaccagctgc agtgtctaag tgttcctcac tgacagggtg
     5701 gggcctcacc acccctggag ggagcagcgt tggcagggag acagcctggc ccagtgaccc
     5761 tgggcccaag ccagcccctc cagggctttc agggaagcgc catccatttt caaagatgtc
     5821 aaacgtcact tcttcctgta gggcccgagt cctgcctcct atcagggcca gatcatagaa
     5881 ggctattttc tattctgggg aacgattata acttaaatga ttgttttaat aaaaattcta
     5941 agctggaaaa
//
LOCUS       NM_000269                890 bp    mRNA    linear   PRI 19-JUN-2023
DEFINITION  Homo sapiens NME/NM23 nucleoside diphosphate kinase 1 (NME1),
            transcript variant 2, mRNA.
ACCESSION   NM_000269
VERSION     NM_000269.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 890)
  AUTHORS   Tossounian MA, Hristov SD, Semelak JA, Yu BYK, Baczynska M, Zhao Y,
            Estrin DA, Trujillo M, Filonenko V, Gouge J and Gout I.
  TITLE     A Unique Mode of Coenzyme A Binding to the Nucleotide Binding Pocket
            of Human Metastasis Suppressor NME1
  JOURNAL   Int J Mol Sci 24 (11), 9359 (2023)
   PUBMED   37298313
  REMARK    GeneRIF: A Unique Mode of Coenzyme A Binding to the Nucleotide
            Binding Pocket of Human Metastasis Suppressor NME1. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 890)
  AUTHORS   Misan N, Michalak S, Kapska K, Osztynowicz K, Ropacka-Lesiak M and
            Kawka-Paciorkowska K.
  TITLE     Does the Blood-Brain Barrier Integrity Change in Regard to the Onset
            of Fetal Growth Restriction?
  JOURNAL   Int J Mol Sci 24 (3), 1965 (2023)
   PUBMED   36768287
  REMARK    GeneRIF: Does the Blood-Brain Barrier Integrity Change in Regard to
            the Onset of Fetal Growth Restriction? Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 890)
  AUTHORS   Khan I, Gril B, Hoshino A, Yang HH, Lee MP, Difilippantonio S, Lyden
            DC and Steeg PS.
  TITLE     Metastasis suppressor NME1 in exosomes or liposomes conveys motility
            and migration inhibition in breast cancer model systems
  JOURNAL   Clin Exp Metastasis 39 (5), 815-831 (2022)
   PUBMED   35939247
  REMARK    GeneRIF: Metastasis suppressor NME1 in exosomes or liposomes conveys
            motility and migration inhibition in breast cancer model systems.
REFERENCE   4  (bases 1 to 890)
  AUTHORS   Eliason S, Hong L, Sweat Y, Chalkley C, Cao H, Liu Q, Qi H, Xu H,
            Zhan F and Amendt BA.
  TITLE     Extracellular vesicle expansion of PMIS-miR-210 expression inhibits
            colorectal tumour growth via apoptosis and an XIST/NME1 regulatory
            mechanism
  JOURNAL   Clin Transl Med 12 (9), e1037 (2022)
   PUBMED   36116139
  REMARK    GeneRIF: Extracellular vesicle expansion of PMIS-miR-210 expression
            inhibits colorectal tumour growth via apoptosis and an XIST/NME1
            regulatory mechanism.
REFERENCE   5  (bases 1 to 890)
  AUTHORS   Yang J, Li Z, Pang Y, Zhou T, Sun J, Cheng XY and Zheng WV.
  TITLE     MicroRNA-139-5p negatively regulates NME1 expression in
            hepatocellular carcinoma cells
  JOURNAL   Adv Clin Exp Med 31 (6), 655-670 (2022)
   PUBMED   35438846
  REMARK    GeneRIF: MicroRNA-139-5p negatively regulates NME1 expression in
            hepatocellular carcinoma cells.
REFERENCE   6  (bases 1 to 890)
  AUTHORS   Hailat N, Keim DR, Melhem RF, Zhu XX, Eckerskorn C, Brodeur GM,
            Reynolds CP, Seeger RC, Lottspeich F, Strahler JR et al.
  TITLE     High levels of p19/nm23 protein in neuroblastoma are associated with
            advanced stage disease and with N-myc gene amplification
  JOURNAL   J Clin Invest 88 (1), 341-345 (1991)
   PUBMED   2056128
REFERENCE   7  (bases 1 to 890)
  AUTHORS   Gilles AM, Presecan E, Vonica A and Lascu I.
  TITLE     Nucleoside diphosphate kinase from human erythrocytes. Structural
            characterization of the two polypeptide chains responsible for
            heterogeneity of the hexameric enzyme
  JOURNAL   J Biol Chem 266 (14), 8784-8789 (1991)
   PUBMED   1851158
REFERENCE   8  (bases 1 to 890)
  AUTHORS   Leone A, McBride OW, Weston A, Wang MG, Anglard P, Cropp CS, Goepel
            JR, Lidereau R, Callahan R, Linehan WM et al.
  TITLE     Somatic allelic deletion of nm23 in human cancer
  JOURNAL   Cancer Res 51 (9), 2490-2493 (1991)
   PUBMED   2015608
REFERENCE   9  (bases 1 to 890)
  AUTHORS   Rosengard AM, Krutzsch HC, Shearn A, Biggs JR, Barker E, Margulies
            IM, King CR, Liotta LA and Steeg PS.
  TITLE     Reduced Nm23/Awd protein in tumour metastasis and aberrant
            Drosophila development
  JOURNAL   Nature 342 (6246), 177-180 (1989)
   PUBMED   2509941
REFERENCE   10  (bases 1 to 890)
  AUTHORS   Fong CT, Dracopoli NC, White PS, Merrill PT, Griffith RC, Housman DE
            and Brodeur GM.
  TITLE     Loss of heterozygosity for the short arm of chromosome 1 in human
            neuroblastomas: correlation with N-myc amplification
  JOURNAL   Proc Natl Acad Sci U S A 86 (10), 3753-3757 (1989)
   PUBMED   2566996
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK291105.1, BG531372.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000393196.8/ ENSP00000376892.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU600979.1, AF487339.1,
            BG715560.1, BF965472.1, BM479520.1, BI666785.1, BE727815.1 and
            AC005839.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 27, 2020 this sequence version replaced NM_000269.2.
            Summary: This gene (NME1) was identified because of its reduced
            mRNA transcript levels in highly metastatic cells. Nucleoside
            diphosphate kinase (NDK) exists as a hexamer composed of 'A'
            (encoded by this gene) and 'B' (encoded by NME2) isoforms.
            Mutations in this gene have been identified in aggressive
            neuroblastomas. Two transcript variants encoding different isoforms
            have been found for this gene. Co-transcription of this gene and
            the neighboring downstream gene (NME2) generates
            naturally-occurring transcripts (NME1-NME2), which encodes a fusion
            protein comprised of sequence sharing identity with each individual
            gene product. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) lacks an alternate exon
            compared to variant 1. The resulting isoform (b) has a shorter
            N-terminus compared to isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..890
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     gene            1..890
                     /gene="NME1"
                     /gene_synonym="AWD; GAAD; NB; NBS; NDKA; NDPK-A; NDPKA;
                     NM23; NM23-H1"
                     /note="NME/NM23 nucleoside diphosphate kinase 1"
                     /db_xref="GeneID:4830"
                     /db_xref="HGNC:HGNC:7849"
                     /db_xref="MIM:156490"
     CDS             109..567
                     /gene="NME1"
                     /gene_synonym="AWD; GAAD; NB; NBS; NDKA; NDPK-A; NDPKA;
                     NM23; NM23-H1"
                     /EC_number="2.7.4.6"
                     /note="isoform b is encoded by transcript variant 2; NDP
                     kinase A; non-metastatic cells 1, protein (NM23A) expressed
                     in; nucleoside diphosphate kinase A; tumor metastatic
                     process-associated protein; granzyme A-activated DNase;
                     metastasis inhibition factor nm23; epididymis secretory
                     sperm binding protein"
                     /codon_start=1
                     /product="nucleoside diphosphate kinase A isoform b"
                     /protein_id="NP_000260.1"
                     /db_xref="CCDS:CCDS11579.1"
                     /db_xref="GeneID:4830"
                     /db_xref="HGNC:HGNC:7849"
                     /db_xref="MIM:156490"
                     /translation="MANCERTFIAIKPDGVQRGLVGEIIKRFEQKGFRLVGLKFMQASE
                     DLLKEHYVDLKDRPFFAGLVKYMHSGPVVAMVWEGLNVVKTGRVMLGETNPADSKPGTI
                     RGDFCIQVGRNIIHGSDSVESAEKEIGLWFHPEELVDYTSCAQNWIYE"
     misc_feature    466..468
                     /gene="NME1"
                     /gene_synonym="AWD; GAAD; NB; NBS; NDKA; NDPK-A; NDPKA;
                     NM23; NM23-H1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P15531.1); phosphorylation site"
     misc_feature    472..474
                     /gene="NME1"
                     /gene_synonym="AWD; GAAD; NB; NBS; NDKA; NDPK-A; NDPKA;
                     NM23; NM23-H1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P15531.1); phosphorylation site"
     misc_feature    481..483
                     /gene="NME1"
                     /gene_synonym="AWD; GAAD; NB; NBS; NDKA; NDPK-A; NDPKA;
                     NM23; NM23-H1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P15531.1); phosphorylation site"
     regulatory      736..741
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NME1"
                     /gene_synonym="AWD; GAAD; NB; NBS; NDKA; NDPK-A; NDPKA;
                     NM23; NM23-H1"
                     /note="hexamer: ATTAAA"
     polyA_site      762
                     /gene="NME1"
                     /gene_synonym="AWD; GAAD; NB; NBS; NDKA; NDPK-A; NDPKA;
                     NM23; NM23-H1"
                     /note="major polyA site"
     regulatory      839..844
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NME1"
                     /gene_synonym="AWD; GAAD; NB; NBS; NDKA; NDPK-A; NDPKA;
                     NM23; NM23-H1"
                     /note="hexamer: AATAGA"
     regulatory      857..862
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NME1"
                     /gene_synonym="AWD; GAAD; NB; NBS; NDKA; NDPK-A; NDPKA;
                     NM23; NM23-H1"
                     /note="hexamer: TATAAA"
     polyA_site      864
                     /gene="NME1"
                     /gene_synonym="AWD; GAAD; NB; NBS; NDKA; NDPK-A; NDPKA;
                     NM23; NM23-H1"
     polyA_site      890
                     /gene="NME1"
                     /gene_synonym="AWD; GAAD; NB; NBS; NDKA; NDPK-A; NDPKA;
                     NM23; NM23-H1"
ORIGIN
        1 gcagaagcgt tccgtgcgtg caagtgctgc gaaccacgtg ggtcccgggc gcgtttcggg
       61 tgctggcggc tgcagccgga gttcaaacct aagcagctgg aaggaaccat ggccaactgt
      121 gagcgtacct tcattgcgat caaaccagat ggggtccagc ggggtcttgt gggagagatt
      181 atcaagcgtt ttgagcagaa aggattccgc cttgttggtc tgaaattcat gcaagcttcc
      241 gaagatcttc tcaaggaaca ctacgttgac ctgaaggacc gtccattctt tgccggcctg
      301 gtgaaataca tgcactcagg gccggtagtt gccatggtct gggaggggct gaatgtggtg
      361 aagacgggcc gagtcatgct cggggagacc aaccctgcag actccaagcc tgggaccatc
      421 cgtggagact tctgcataca agttggcagg aacattatac atggcagtga ttctgtggag
      481 agtgcagaga aggagatcgg cttgtggttt caccctgagg aactggtaga ttacacgagc
      541 tgtgctcaga actggatcta tgaatgacag gagggcagac cacattgctt ttcacatcca
      601 tttcccctcc ttcccatggg cagaggacca ggctgtagga aatctagtta tttacaggaa
      661 cttcatcata atttggaggg aagctcttgg agctgtgagt tctccctgta cagtgttacc
      721 atccccgacc atctgattaa aatgcttcct cccagcatag gattcattga gttggttact
      781 tcatattgtt gcattgcttt tttttccttc ttttcatgta cactgaataa cctgacctaa
      841 tagagagtgt aaatactata aaaatgattt attttgaggt ctcacataca
//
LOCUS       NM_000270               1477 bp    mRNA    linear   PRI 18-MAR-2023
DEFINITION  Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.
ACCESSION   NM_000270
VERSION     NM_000270.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1477)
  AUTHORS   Frost CF, Balasubramani SG, Antoniou D and Schwartz SD.
  TITLE     Connecting Conformational Motions to Rapid Dynamics in Human Purine
            Nucleoside Phosphorylase
  JOURNAL   J Phys Chem B 127 (1), 144-150 (2023)
   PUBMED   36538016
  REMARK    GeneRIF: Connecting Conformational Motions to Rapid Dynamics in
            Human Purine Nucleoside Phosphorylase.
REFERENCE   2  (bases 1 to 1477)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1477)
  AUTHORS   Al-Saud B, Al Alawi Z, Hussain FB, Hershfield M, Alkuraya FS and
            Al-Mayouf SM.
  TITLE     A Case with Purine Nucleoside Phosphorylase Deficiency Suffering
            from Late-Onset Systemic Lupus Erythematosus and Lymphoma
  JOURNAL   J Clin Immunol 40 (6), 833-839 (2020)
   PUBMED   32514656
  REMARK    GeneRIF: A Case with Purine Nucleoside Phosphorylase Deficiency
            Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.
REFERENCE   4  (bases 1 to 1477)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1477)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1477)
  AUTHORS   Aust MR, Andrews LG, Barrett MJ, Norby-Slycord CJ and Markert ML.
  TITLE     Molecular analysis of mutations in a patient with purine nucleoside
            phosphorylase deficiency
  JOURNAL   Am J Hum Genet 51 (4), 763-772 (1992)
   PUBMED   1384322
REFERENCE   7  (bases 1 to 1477)
  AUTHORS   Andrews LG and Markert ML.
  TITLE     Exon skipping in purine nucleoside phosphorylase mRNA processing
            leading to severe immunodeficiency
  JOURNAL   J Biol Chem 267 (11), 7834-7838 (1992)
   PUBMED   1560016
REFERENCE   8  (bases 1 to 1477)
  AUTHORS   Jonsson JJ, Williams SR and McIvor RS.
  TITLE     Sequence and functional characterization of the human purine
            nucleoside phosphorylase promoter
  JOURNAL   Nucleic Acids Res 19 (18), 5015-5020 (1991)
   PUBMED   1923769
REFERENCE   9  (bases 1 to 1477)
  AUTHORS   Markert ML.
  TITLE     Purine nucleoside phosphorylase deficiency
  JOURNAL   Immunodefic Rev 3 (1), 45-81 (1991)
   PUBMED   1931007
  REMARK    Review article
REFERENCE   10  (bases 1 to 1477)
  AUTHORS   Borgers,M., Verhaegen,H., De Brabander,M., De Cree,J., De Cock,W.,
            Thone,F. and Geuens,G.
  TITLE     Purine nucleoside phosphorylase in chronic lymphocytic leukemia
            (CLL)
  JOURNAL   Blood 52 (5), 886-895 (1978)
   PUBMED   100152
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: EU794649.1, BC106074.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000361505.10/ ENSP00000354532.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC106074.1.
            On Dec 4, 2019 this sequence version replaced NM_000270.3.
            Summary: This gene encodes an enzyme which reversibly catalyzes the
            phosphorolysis of purine nucleosides. The enzyme is trimeric,
            containing three identical subunits. Mutations which result in
            nucleoside phosphorylase deficiency result in defective T-cell
            (cell-mediated) immunity but can also affect B-cell immunity and
            antibody responses. Neurologic disorders may also be apparent in
            patients with immune defects. A known polymorphism at aa position
            51 that does not affect enzyme activity has been described. A
            pseudogene has been identified on chromosome 2. [provided by
            RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1477
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1477
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /note="purine nucleoside phosphorylase"
                     /db_xref="GeneID:4860"
                     /db_xref="HGNC:HGNC:7892"
                     /db_xref="MIM:164050"
     misc_feature    42..44
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /note="upstream in-frame stop codon"
     CDS             120..989
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /EC_number="2.4.2.1"
                     /note="inosine phosphorylase;
                     purine-nucleoside:orthophosphate ribosyltransferase;
                     HEL-S-156an; inosine-guanosine phosphorylase; epididymis
                     secretory sperm binding protein Li 156an"
                     /codon_start=1
                     /product="purine nucleoside phosphorylase"
                     /protein_id="NP_000261.2"
                     /db_xref="CCDS:CCDS9552.1"
                     /db_xref="GeneID:4860"
                     /db_xref="HGNC:HGNC:7892"
                     /db_xref="MIM:164050"
                     /translation="MENGYTYEDYKNTAEWLLSHTKHRPQVAIICGSGLGGLTDKLTQA
                     QIFDYGEIPNFPRSTVPGHAGRLVFGFLNGRACVMMQGRFHMYEGYPLWKVTFPVRVFH
                     LLGVDTLVVTNAAGGLNPKFEVGDIMLIRDHINLPGFSGQNPLRGPNDERFGDRFPAMS
                     DAYDRTMRQRALSTWKQMGEQRELQEGTYVMVAGPSFETVAECRVLQKLGADAVGMSTV
                     PEVIVARHCGLRVFGFSLITNKVIMDYESLEKANHEEVLAAGKQAAQKLEQFVSILMAS
                     IPLPDKAS"
     misc_feature    120..122
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.8,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895;
                     propagated from UniProtKB/Swiss-Prot (P00491.2);
                     acetylation site"
     misc_feature    846..848
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /note="Important for substrate specificity.
                     /evidence=ECO:0000269|PubMed:9305964; propagated from
                     UniProtKB/Swiss-Prot (P00491.2); other site"
     misc_feature    870..872
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P00491.2); phosphorylation site"
     regulatory      1456..1461
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /note="hexamer: AATAAA"
     polyA_site      1477
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /note="major polyA site"
ORIGIN
        1 aactgtgcga accagacccg gcagccttgc tcagttcagc atagcggagc ggatccgatc
       61 ggatcggagc ggatcggagc acaccggagc aggctcatcg agaaggcgtc tgcgagacca
      121 tggagaacgg atacacctat gaagattata agaacactgc agaatggctt ctgtctcaca
      181 ctaagcaccg acctcaagtt gcaataatct gtggttctgg attaggaggt ctgactgata
      241 aattaactca ggcccagatc tttgactacg gtgaaatccc caactttccc cgaagtacag
      301 tgccaggtca tgctggccga ctggtgtttg ggttcctgaa tggcagggcc tgtgtgatga
      361 tgcagggcag gttccacatg tatgaagggt acccactctg gaaggtgaca ttcccagtga
      421 gggttttcca ccttctgggt gtggacaccc tggtagtcac caatgcagca ggagggctga
      481 accccaagtt tgaggttgga gatatcatgc tgatccgtga ccatatcaac ctacctggtt
      541 tcagtggtca gaaccctctc agagggccca atgatgaaag gtttggagat cgtttccctg
      601 ccatgtctga tgcctacgac cggactatga ggcagagggc tctcagtacc tggaaacaaa
      661 tgggggagca acgtgagcta caggaaggca cctatgtgat ggtggcaggc cccagctttg
      721 agactgtggc agaatgtcgt gtgctgcaga agctgggagc agacgctgtt ggcatgagta
      781 cagtaccaga agttatcgtt gcacggcact gtggacttcg agtctttggc ttctcactca
      841 tcactaacaa ggtcatcatg gattatgaaa gcctggagaa ggccaaccat gaagaagtct
      901 tagcagctgg caaacaagct gcacagaaat tggaacagtt tgtctccatt cttatggcca
      961 gcattccact ccctgacaaa gccagttgac ctgccttgga gtcgtctggc atctcccaca
     1021 caagacccaa gtagctgcta ccttctttgg ccccttgctg gagtcatgtg cctctgtcct
     1081 taggttgtag cagaaaggaa aagattcctg tccttcacct ttcccacttt cttctaccag
     1141 acccttctgg tgccagatcc tcttctcaaa gctgggatta caggtgtgag catagtgaga
     1201 ccttggcgct acaaaataaa gctgttctca ttcctgttct ttcttacaca agagctggag
     1261 cccgtgccct accacacatc tgtggagatg cccaggattt gactcgggcc ttagaacttt
     1321 gcatagcagc tgctactagc tctttgagat aatacattcc gaggggctca gttctgcctt
     1381 atctaaatca ccagagacca aacaaggact aatccaatac ctcttggatt ttatttaatg
     1441 tcataatgtt gtcagaataa agagaaagat gaaataa
//
LOCUS       NM_000271               4760 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens NPC intracellular cholesterol transporter 1 (NPC1),
            mRNA.
ACCESSION   NM_000271
VERSION     NM_000271.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4760)
  AUTHORS   Rus AA, Militaru IV, Popa I, Munteanu CVA, Sima LE, Platt N, Platt
            FM and Petrescu SM.
  TITLE     NPC1 plays a role in the trafficking of specific cargo to
            melanosomes
  JOURNAL   J Biol Chem 299 (8), 105024 (2023)
   PUBMED   37423302
  REMARK    GeneRIF: NPC1 plays a role in the trafficking of specific cargo to
            melanosomes.
REFERENCE   2  (bases 1 to 4760)
  AUTHORS   Casas M, Murray KD, Hino K, Vierra NC, Simo S, Trimmer JS, Dixon RE
            and Dickson EJ.
  TITLE     NPC1-dependent alterations in KV2.1-CaV1.2 nanodomains drive
            neuronal death in models of Niemann-Pick Type C disease
  JOURNAL   Nat Commun 14 (1), 4553 (2023)
   PUBMED   37507375
  REMARK    GeneRIF: NPC1-dependent alterations in KV2.1-CaV1.2 nanodomains
            drive neuronal death in models of Niemann-Pick Type C disease.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4760)
  AUTHORS   Somerville EN, Krohn L, Yu E, Rudakou U, Senkevich K, Ruskey JA,
            Asayesh F, Ahmad J, Spiegelman D, Dauvilliers Y, Arnulf I, Hu MTM,
            Montplaisir JY, Gagnon JF, Desautels A, Ibrahim A, Stefani A, Hogl
            B, Gigli GL, Valente M, Janes F, Bernardini A, Dusek P, Sonka K,
            Kemlink D, Plazzi G, Antelmi E, Biscarini F, Mollenhauer B,
            Trenkwalder C, Sixel-Doring F, Figorilli M, Puligheddu M, De Cock
            VC, Oertel W, Janzen A, Ferini-Strambi L, Heibreder A, Monaca CC,
            Abril B, Dijkstra F, Viaene M, Boeve BF, Postuma RB, Rouleau GA and
            Gan-Or Z.
  TITLE     NPC1 variants are not associated with Parkinson's disease, REM-sleep
            behavior disorder or dementia with Lewy bodies in European cohorts
  JOURNAL   Neurobiol Aging 127, 94-98 (2023)
   PUBMED   37032242
  REMARK    GeneRIF: NPC1 variants are not associated with Parkinson's disease,
            REM-sleep behavior disorder or dementia with Lewy bodies in European
            cohorts.
REFERENCE   4  (bases 1 to 4760)
  AUTHORS   Hughes MP, Nelvagal HR, Coombe-Tennant O, Smith D, Smith C, Massaro
            G, Poupon-Bejuit L, Platt FM and Rahim AA.
  TITLE     A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in
            Mouse Models of Niemann-Pick Type C1 Disease
  JOURNAL   Cells 12 (12), 1619 (2023)
   PUBMED   37371089
  REMARK    GeneRIF: A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene
            Therapy in Mouse Models of Niemann-Pick Type C1 Disease. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 4760)
  AUTHORS   Loftus SK, Morris JA, Carstea ED, Gu JZ, Cummings C, Brown A,
            Ellison J, Ohno K, Rosenfeld MA, Tagle DA, Pentchev PG and Pavan WJ.
  TITLE     Murine model of Niemann-Pick C disease: mutation in a cholesterol
            homeostasis gene
  JOURNAL   Science 277 (5323), 232-235 (1997)
   PUBMED   9211850
REFERENCE   6  (bases 1 to 4760)
  AUTHORS   Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C,
            Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos
            MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A,
            Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang TY,
            Liscum L, Strauss JF 3rd, Ohno K, Zeigler M, Carmi R, Sokol J,
            Markie D, O'Neill RR, van Diggelen OP, Elleder M, Patterson MC,
            Brady RO, Vanier MT, Pentchev PG and Tagle DA.
  TITLE     Niemann-Pick C1 disease gene: homology to mediators of cholesterol
            homeostasis
  JOURNAL   Science 277 (5323), 228-231 (1997)
   PUBMED   9211849
REFERENCE   7  (bases 1 to 4760)
  AUTHORS   Greer WL, Riddell DC, Byers DM, Welch JP, Girouard GS, Sparrow SM,
            Gillan TL and Neumann PE.
  TITLE     Linkage of Niemann-Pick disease type D to the same region of human
            chromosome 18 as Niemann-Pick disease type C
  JOURNAL   Am J Hum Genet 61 (1), 139-142 (1997)
   PUBMED   9245994
REFERENCE   8  (bases 1 to 4760)
  AUTHORS   Carstea ED, Polymeropoulos MH, Parker CC, Detera-Wadleigh SD,
            O'Neill RR, Patterson MC, Goldin E, Xiao H, Straub RE, Vanier MT et
            al.
  TITLE     Linkage of Niemann-Pick disease type C to human chromosome 18
  JOURNAL   Proc Natl Acad Sci U S A 90 (5), 2002-2004 (1993)
   PUBMED   8446622
REFERENCE   9  (bases 1 to 4760)
  AUTHORS   Patterson,M.
  TITLE     Niemann-Pick Disease Type C
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301473
REFERENCE   10  (bases 1 to 4760)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB209048.1, BC063302.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000269228.10/ ENSP00000269228.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DR159421.1, AF002020.1,
            AB209048.1, BC063302.1 and AC010853.11.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000271.4.
            Summary: This gene encodes a large protein that resides in the
            limiting membrane of endosomes and lysosomes and mediates
            intracellular cholesterol trafficking via binding of cholesterol to
            its N-terminal domain. It is predicted to have a cytoplasmic
            C-terminus, 13 transmembrane domains, and 3 large loops in the
            lumen of the endosome - the last loop being at the N-terminus. This
            protein transports low-density lipoproteins to late
            endosomal/lysosomal compartments where they are hydrolized and
            released as free cholesterol. Defects in this gene cause
            Niemann-Pick type C disease, a rare autosomal recessive
            neurodegenerative disorder characterized by over accumulation of
            cholesterol and glycosphingolipids in late endosomal/lysosomal
            compartments.[provided by RefSeq, Aug 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4760
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q11.2"
     gene            1..4760
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="NPC intracellular cholesterol transporter 1"
                     /db_xref="GeneID:4864"
                     /db_xref="HGNC:HGNC:7897"
                     /db_xref="MIM:607623"
     CDS             164..4000
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="Niemann-Pick C1 protein"
                     /codon_start=1
                     /product="NPC intracellular cholesterol transporter 1
                     precursor"
                     /protein_id="NP_000262.2"
                     /db_xref="CCDS:CCDS11878.1"
                     /db_xref="GeneID:4864"
                     /db_xref="HGNC:HGNC:7897"
                     /db_xref="MIM:607623"
                     /translation="MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEYS
                     GPPKPLPKDGYDLVQELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNL
                     LNLFCELTCSPRQSQFLNVTATEDYVDPVTNQTKTNVKELQYYVGQSFANAMYNACRDV
                     EAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNN
                     ATKGCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFLL
                     VFFGAFFAVWCYRKRYFVSEYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFT
                     RWGSFCVRNPGCVIFFSLVFITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHF
                     GPFFRTEQLIIRAPLTDKHIYQPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYD
                     NETVTLQDICLAPLSPYNTNCTILSVLNYFQNSHSVLDHKKGDDFFVYADYHTHFLYCV
                     RAPASLNDTSLLHDPCLGTFGGPVFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTEK
                     LQRAQAWEKEFINFVKNYKNPNLTISFTAERSIEDELNRESDSDVFTVVISYAIMFLYI
                     SLALGHMKSCRRLLVDSKVSLGIAGILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLV
                     LAVGVDNIFILVQAYQRDERLQGETLDQQLGRVLGEVAPSMFLSSFSETVAFFLGALSV
                     MPAVHTFSLFAGLAVFIDFLLQITCFVSLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQA
                     SESCLFRFFKNSYSPLLLKDWMRPIVIAIFVGVLSFSIAVLNKVDIGLDQSLSMPDDSY
                     MVDYFKSISQYLHAGPPVYFVLEEGHDYTSSKGQNMVCGGMGCNNDSLVQQIFNAAQLD
                     NYTRIGFAPSSWIDDYFDWVKPQSSCCRVDNITDQFCNASVVDPACVRCRPLTPEGKQR
                     PQGGDFMRFLPMFLSDNPNPKCGKGGHAAYSSAVNILLGHGTRVGATYFMTYHTVLQTS
                     ADFIDALKKARLIASNVTETMGINGSAYRVFPYSVFYVFYEQYLTIIDDTIFNLGVSLG
                     AIFLVTMVLLGCELWSAVIMCATIAMVLVNMFGVMWLWGISLNAVSLVNLVMSCGISVE
                     FCSHITRAFTVSMKGSRVERAEEALAHMGSSVFSGITLTKFGGIVVLAFAKSQIFQIFY
                     FRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKSCATEERYKGTERERLLNF"
     sig_peptide     164..229
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    371..373
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305|PubMed:10821832; propagated from
                     UniProtKB/Swiss-Prot (O15118.2); glycosylation site"
     misc_feature    485..487
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="Important for cholesterol binding.
                     /evidence=ECO:0000269|PubMed:19563754; propagated from
                     UniProtKB/Swiss-Prot (O15118.2); other site"
     misc_feature    527..529
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:27238017,
                     ECO:0000305|PubMed:10821832, ECO:0007744|PDB:3JD8;
                     propagated from UniProtKB/Swiss-Prot (O15118.2);
                     glycosylation site"
     misc_feature    566..568
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:27238017, ECO:0007744|PDB:3JD8;
                     propagated from UniProtKB/Swiss-Prot (O15118.2);
                     glycosylation site"
     misc_feature    635..637
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine, atypical.
                     /evidence=ECO:0000269|PubMed:19563754,
                     ECO:0000269|PubMed:27238017, ECO:0007744|PDB:3GKI,
                     ECO:0007744|PDB:3GKJ, ECO:0007744|PDB:3JD8; propagated from
                     UniProtKB/Swiss-Prot (O15118.2); glycosylation site"
     misc_feature    686..778
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15118.2);
                     Region: Important for cholesterol binding and cholesterol
                     transfer from NPC1 to liposomes"
     misc_feature    716..718
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:27238017,
                     ECO:0000305|PubMed:10821832, ECO:0007744|PDB:3JD8;
                     propagated from UniProtKB/Swiss-Prot (O15118.2);
                     glycosylation site"
     misc_feature    827..829
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19563754,
                     ECO:0000269|PubMed:27238017, ECO:0007744|PDB:3GKI,
                     ECO:0007744|PDB:3GKJ, ECO:0007744|PDB:3JD8; propagated from
                     UniProtKB/Swiss-Prot (O15118.2); glycosylation site"
     misc_feature    947..1009
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15118.2);
                     transmembrane region"
     misc_feature    1214..1276
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15118.2);
                     transmembrane region"
     misc_feature    1517..1519
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28784760,
                     ECO:0007744|PDB:5U74; propagated from UniProtKB/Swiss-Prot
                     (O15118.2); glycosylation site"
     misc_feature    1538..1540
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28784760,
                     ECO:0007744|PDB:5U74; propagated from UniProtKB/Swiss-Prot
                     (O15118.2); glycosylation site"
     misc_feature    1595..1597
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:26846330,
                     ECO:0000269|PubMed:28784760, ECO:0007744|PDB:5HNS,
                     ECO:0007744|PDB:5U74; propagated from UniProtKB/Swiss-Prot
                     (O15118.2); glycosylation site"
     misc_feature    1733..1735
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:26846330, ECO:0000269|PubMed:27238017,
                     ECO:0000269|PubMed:28784760, ECO:0007744|PDB:3JD8,
                     ECO:0007744|PDB:5HNS, ECO:0007744|PDB:5U74; propagated from
                     UniProtKB/Swiss-Prot (O15118.2); glycosylation site"
     misc_feature    1832..1834
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:26846330,
                     ECO:0000269|PubMed:28784760, ECO:0007744|PDB:5HNS,
                     ECO:0007744|PDB:5U74; propagated from UniProtKB/Swiss-Prot
                     (O15118.2); glycosylation site"
     misc_feature    1877..1879
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:26846330,
                     ECO:0000269|PubMed:27238017, ECO:0007744|PDB:3JD8,
                     ECO:0007744|PDB:5HNS; propagated from UniProtKB/Swiss-Prot
                     (O15118.2); glycosylation site"
     misc_feature    1955..1957
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:26846330,
                     ECO:0000269|PubMed:27238017, ECO:0000269|PubMed:28784760,
                     ECO:0007744|PDB:3JD8, ECO:0007744|PDB:5HNS,
                     ECO:0007744|PDB:5U74; propagated from UniProtKB/Swiss-Prot
                     (O15118.2); glycosylation site"
     misc_feature    2024..2086
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15118.2);
                     transmembrane region"
     misc_feature    2123..2188
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15118.2);
                     transmembrane region"
     misc_feature    2219..2281
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15118.2);
                     transmembrane region"
     misc_feature    2354..2416
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15118.2);
                     transmembrane region"
     misc_feature    2441..2512
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15118.2);
                     transmembrane region"
     misc_feature    2660..2722
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15118.2);
                     transmembrane region"
     misc_feature    2909..2911
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28784760,
                     ECO:0007744|PDB:5U74; propagated from UniProtKB/Swiss-Prot
                     (O15118.2); glycosylation site"
     misc_feature    2954..2956
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28784760,
                     ECO:0007744|PDB:5U74; propagated from UniProtKB/Swiss-Prot
                     (O15118.2); glycosylation site"
     misc_feature    3044..3046
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28784760,
                     ECO:0007744|PDB:5U74; propagated from UniProtKB/Swiss-Prot
                     (O15118.2); glycosylation site"
     misc_feature    3065..3067
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28784760,
                     ECO:0007744|PDB:5U74; propagated from UniProtKB/Swiss-Prot
                     (O15118.2); glycosylation site"
     misc_feature    3353..3355
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:27238017,
                     ECO:0000269|PubMed:28784760, ECO:0007744|PDB:3JD8,
                     ECO:0007744|PDB:5U74; propagated from UniProtKB/Swiss-Prot
                     (O15118.2); glycosylation site"
     misc_feature    3377..3379
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O15118.2); glycosylation site"
     misc_feature    3455..3517
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15118.2);
                     transmembrane region"
     misc_feature    3536..3598
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15118.2);
                     transmembrane region"
     misc_feature    3614..3676
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15118.2);
                     transmembrane region"
     misc_feature    3746..3808
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15118.2);
                     transmembrane region"
     misc_feature    3833..3895
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15118.2);
                     transmembrane region"
     misc_feature    3986..3997
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15118.2);
                     Region: Di-leucine motif. /evidence=ECO:0000305"
     misc_feature    3986..3997
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15118.2);
                     Region: Required for location in lysosomes.
                     /evidence=ECO:0000269|PubMed:9927649"
     regulatory      4686..4691
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="hexamer: AATACA"
     polyA_site      4703
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="major polyA site"
     regulatory      4737..4742
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
                     /note="hexamer: AATACA"
     polyA_site      4760
                     /gene="NPC1"
                     /gene_synonym="NPC; POGZ; SLC65A1"
ORIGIN
        1 cttcctgacc ggcgcgcgca gcctgctgcc gcggtcagcg cctgctcctg ctcctccgct
       61 cctcctgcgc ggggtgctga aacagcccgg ggaagtagag ccgcctccgg ggagcccaac
      121 cagccgaacg ccgccggcgt cagcagcctt gcgcggccac agcatgaccg ctcgcggcct
      181 ggcccttggc ctcctcctgc tgctactgtg tccagcgcag gtgttttcac agtcctgtgt
      241 ttggtatgga gagtgtggaa ttgcatatgg ggacaagagg tacaattgcg aatattctgg
      301 cccaccaaaa ccattgccaa aggatggata tgacttagtg caggaactct gtccaggatt
      361 cttctttggc aatgtcagtc tctgttgtga tgttcggcag cttcagacac taaaagacaa
      421 cctgcagctg cctctacagt ttctgtccag atgtccatcc tgtttttata acctactgaa
      481 cctgttttgt gagctgacat gtagccctcg acagagtcag tttttgaatg ttacagctac
      541 tgaagattat gttgatcctg ttacaaacca gacgaaaaca aatgtgaaag agttacaata
      601 ctacgtcgga cagagttttg ccaatgcaat gtacaatgcc tgccgggatg tggaggcccc
      661 ctcaagtaat gacaaggccc tgggactcct gtgtgggaag gacgctgacg cctgtaatgc
      721 caccaactgg attgaataca tgttcaataa ggacaatgga caggcacctt ttaccatcac
      781 tcctgtgttt tcagattttc cagtccatgg gatggagccc atgaacaatg ccaccaaagg
      841 ctgtgacgag tctgtggatg aggtcacagc accatgtagc tgccaagact gctctattgt
      901 ctgtggcccc aagccccagc ccccacctcc tcctgctccc tggacgatcc ttggcttgga
      961 cgccatgtat gtcatcatgt ggatcaccta catggcgttt ttgcttgtgt tttttggagc
     1021 attttttgca gtgtggtgct acagaaaacg gtattttgtc tccgagtaca ctcccatcga
     1081 tagcaatata gctttttctg ttaatgcaag tgacaaagga gaggcgtcct gctgtgaccc
     1141 tgtcagcgca gcatttgagg gctgcttgag gcggctgttc acacgctggg ggtctttctg
     1201 cgtccgaaac cctggctgtg tcattttctt ctcgctggtc ttcattactg cgtgttcgtc
     1261 aggcctggtg tttgtccggg tcacaaccaa tccagttgac ctctggtcag cccccagcag
     1321 ccaggctcgc ctggaaaaag agtactttga ccagcacttt gggcctttct tccggacgga
     1381 gcagctcatc atccgggccc ctctcactga caaacacatt taccagccat acccttcggg
     1441 agctgatgta ccctttggac ctccgcttga catacagata ctgcaccagg ttcttgactt
     1501 acaaatagcc atcgaaaaca ttactgcctc ttatgacaat gagactgtga cacttcaaga
     1561 catctgcttg gcccctcttt caccgtataa cacgaactgc accattttga gtgtgttaaa
     1621 ttacttccag aacagccatt ccgtgctgga ccacaagaaa ggggacgact tctttgtgta
     1681 tgccgattac cacacgcact ttctgtactg cgtacgggct cctgcctctc tgaatgatac
     1741 aagtttgctc catgaccctt gtctgggtac gtttggtgga ccagtgttcc cgtggcttgt
     1801 gttgggaggc tatgatgatc aaaactacaa taacgccact gcccttgtga ttaccttccc
     1861 tgtcaataat tactataatg atacagagaa gctccagagg gcccaggcct gggaaaaaga
     1921 gtttattaat tttgtgaaaa actacaagaa tcccaatctg accatttcct tcactgctga
     1981 acgaagtatt gaagatgaac taaatcgtga aagtgacagt gatgtcttca ccgttgtaat
     2041 tagctatgcc atcatgtttc tatatatttc cctagccttg gggcacatga aaagctgtcg
     2101 caggcttctg gtggattcga aggtctcact aggcatcgcg ggcatcttga tcgtgctgag
     2161 ctcggtggct tgctccttgg gtgtcttcag ctacattggg ttgcccttga ccctcattgt
     2221 gattgaagtc atcccgttcc tggtgctggc tgttggagtg gacaacatct tcattctggt
     2281 gcaggcctac cagagagatg aacgtcttca aggggaaacc ctggatcagc agctgggcag
     2341 ggtcctagga gaagtggctc ccagtatgtt cctgtcatcc ttttctgaga ctgtagcatt
     2401 tttcttagga gcattgtccg tgatgccagc cgtgcacacc ttctctctct ttgcgggatt
     2461 ggcagtcttc attgactttc ttctgcagat tacctgtttc gtgagtctct tggggttaga
     2521 cattaaacgt caagagaaaa atcggctaga catcttttgc tgtgtcagag gtgctgaaga
     2581 tggaacaagc gtccaggcct cagagagctg tttgtttcgc ttcttcaaaa actcctattc
     2641 tccacttctg ctaaaggact ggatgagacc aattgtgata gcaatatttg tgggtgttct
     2701 gtcattcagc atcgcagtcc tgaacaaagt agatattgga ttggatcagt ctctttcgat
     2761 gccagatgac tcctacatgg tggattattt caaatccatc agtcagtacc tgcatgcggg
     2821 tccgcctgtg tactttgtcc tggaggaagg gcacgactac acttcttcca aggggcagaa
     2881 catggtgtgc ggcggcatgg gctgcaacaa tgattccctg gtgcagcaga tatttaacgc
     2941 ggcgcagctg gacaactata cccgaatagg cttcgccccc tcgtcctgga tcgacgatta
     3001 tttcgactgg gtgaagccac agtcgtcttg ctgtcgagtg gacaatatca ctgaccagtt
     3061 ctgcaatgct tcagtggttg accctgcctg cgttcgctgc aggcctctga ctccggaagg
     3121 caaacagagg cctcaggggg gagacttcat gagattcctg cccatgttcc tttcggataa
     3181 ccctaacccc aagtgtggca aagggggaca tgctgcctat agttctgcag ttaacatcct
     3241 ccttggccat ggcaccaggg tcggagccac gtacttcatg acctaccaca ccgtgctgca
     3301 gacctctgct gactttattg acgctctgaa gaaagcccga cttatagcca gtaatgtcac
     3361 cgaaaccatg ggcattaacg gcagtgccta ccgagtattt ccttacagtg tgttttatgt
     3421 cttctacgaa cagtacctga ccatcattga cgacactatc ttcaacctcg gtgtgtccct
     3481 gggcgcgata tttctggtga ccatggtcct cctgggctgt gagctctggt ctgcagtcat
     3541 catgtgtgcc accatcgcca tggtcttggt caacatgttt ggagttatgt ggctctgggg
     3601 catcagtctg aacgctgtat ccttggtcaa cctggtgatg agctgtggca tctccgtgga
     3661 gttctgcagc cacataacca gagcgttcac ggtgagcatg aaaggcagcc gcgtggagcg
     3721 cgcggaagag gcacttgccc acatgggcag ctccgtgttc agtggaatca cacttacaaa
     3781 atttggaggg attgtggtgt tggcttttgc caaatctcaa attttccaga tattctactt
     3841 caggatgtat ttggccatgg tcttactggg agccactcac ggattaatat ttctccctgt
     3901 cttactcagt tacatagggc catcagtaaa taaagccaaa agttgtgcca ctgaagagcg
     3961 atacaaagga acagagcgcg aacggcttct aaatttctag ccctctcgca gggcatcctg
     4021 actgaactgt gtctaagggt cggtcggttt accactggac gggtgctgca tcggcaaggc
     4081 caagttgaac accggatggt gccaaccatc ggttgtttgg cagcagcttt gaacgtagcg
     4141 cctgtgaact caggaatgca cagttgactt gggaagcagt attactagat ctggaggcaa
     4201 ccacaggaca ctaaacttct cccagcctct tcaggaaaga aacctcattc tttggcaagc
     4261 aggaggtgac actagatggc tgtgaatgtg atccgctcac tgacactctg taaaggccaa
     4321 tcaatgcact gtctgtctct ccttttagga gtaagccatc ccacaagttc tataccatat
     4381 ttttagtgac agttgaggtt gtagatacac tttataacat tttatagttt aaagagcttt
     4441 attaatgcaa taaattaact ttgtacacat ttttatataa aaaaacagca agtgatttca
     4501 gaatgttgta ggcctcatta gagcttggtc tccaaaaatc tgtttgaaaa aagcaacatg
     4561 ttcttcacag tgttccccta gaaaggaaga gatttaattg ccagttagat gtggcatgaa
     4621 atgagggaca aagaaagcat ctcgtaggtg tgtctactgg gttttaactt atttttcttt
     4681 aataaaatac attgttttcc taagttttgg ggttacccta tctgctttga gagacaaata
     4741 caaaagctaa atggaagaga
//
LOCUS       NM_000273               1645 bp    mRNA    linear   PRI 17-APR-2023
DEFINITION  Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.
ACCESSION   NM_000273
VERSION     NM_000273.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1645)
  AUTHORS   Lee YJ, Shin KJ, Jang HJ, Ryu JS, Lee CY, Yoon JH, Seo JK, Park S,
            Lee S, Je AR, Huh YH, Kong SY, Kwon T, Suh PG and Chae YC.
  TITLE     GPR143 controls ESCRT-dependent exosome biogenesis and promotes
            cancer metastasis
  JOURNAL   Dev Cell 58 (4), 320-334 (2023)
   PUBMED   36800996
  REMARK    GeneRIF: GPR143 controls ESCRT-dependent exosome biogenesis and
            promotes cancer metastasis.
REFERENCE   2  (bases 1 to 1645)
  AUTHORS   Zhong J, You B, Xu K, Zhang X, Xie Y and Li Y.
  TITLE     GPR143 genotypic and ocular phenotypic characterisation in a Chinese
            cohort with ocular albinism
  JOURNAL   Ophthalmic Genet 42 (6), 717-724 (2021)
   PUBMED   34346269
  REMARK    GeneRIF: GPR143 genotypic and ocular phenotypic characterisation in
            a Chinese cohort with ocular albinism.
REFERENCE   3  (bases 1 to 1645)
  AUTHORS   Mao X, Chen M, Yu Y, Liu Q, Yuan S and Fan W.
  TITLE     Identification of a novel GPR143 mutation in a large Chinese family
            with isolated foveal hypoplasia
  JOURNAL   BMC Ophthalmol 21 (1), 156 (2021)
   PUBMED   33785018
  REMARK    GeneRIF: Identification of a novel GPR143 mutation in a large
            Chinese family with isolated foveal hypoplasia. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 1645)
  AUTHORS   Figueroa AG and McKay BS.
  TITLE     GPR143 Signaling and Retinal Degeneration
  JOURNAL   Adv Exp Med Biol 1185, 15-19 (2019)
   PUBMED   31884582
  REMARK    GeneRIF: reduced signaling of GPR143 may be a potential contributor
            to age-related macular degenerationpathogenesis [review] Review
            article
REFERENCE   5  (bases 1 to 1645)
  AUTHORS   Oetting WS.
  TITLE     New insights into ocular albinism type 1 (OA1): Mutations and
            polymorphisms of the OA1 gene
  JOURNAL   Hum Mutat 19 (2), 85-92 (2002)
   PUBMED   11793467
  REMARK    GeneRIF: Review: mutational analysis in ocular albinism type 1
            Review article
REFERENCE   6  (bases 1 to 1645)
  AUTHORS   Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini
            M, Gebbia M, Bergen AA, Lewis RA and Ballabio A.
  TITLE     Cloning of the gene for ocular albinism type 1 from the distal short
            arm of the X chromosome
  JOURNAL   Nat Genet 10 (1), 13-19 (1995)
   PUBMED   7647783
REFERENCE   7  (bases 1 to 1645)
  AUTHORS   Meindl A, Hosenfeld D, Bruckl W, Schuffenhauer S, Jenderny J,
            Bacskulin A, Oppermann HC, Swensson O, Bouloux P and Meitinger T.
  TITLE     Analysis of a terminal Xp22.3 deletion in a patient with six
            monogenic disorders: implications for the mapping of X linked ocular
            albinism
  JOURNAL   J Med Genet 30 (10), 838-842 (1993)
   PUBMED   8230160
REFERENCE   8  (bases 1 to 1645)
  AUTHORS   Thomas,M.G., Zippin,J. and Brooks,B.P.
  TITLE     Oculocutaneous Albinism and Ocular Albinism Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   37053367
REFERENCE   9  (bases 1 to 1645)
  AUTHORS   Lewis,R.A.
  TITLE     Ocular Albinism, X-Linked - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301517
REFERENCE   10  (bases 1 to 1645)
  AUTHORS   Schnur RE, Trask BJ, van den Engh G, Punnett HH, Kistenmacher M,
            Tomeo MA, Naids RE and Nussbaum RL.
  TITLE     An Xp22 microdeletion associated with ocular albinism and
            ichthyosis: approximation of breakpoints and estimation of deletion
            size by using cloned DNA probes and flow cytometry
  JOURNAL   Am J Hum Genet 45 (5), 706-720 (1989)
   PUBMED   2573275
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC068977.1, Z48804.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142853
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000467482.6/ ENSP00000417161.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z48804.1, BU188283.1 and
            AC003036.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 24, 2018 this sequence version replaced NM_000273.2.
            Summary: This gene encodes a protein that binds to heterotrimeric G
            proteins and is targeted to melanosomes in pigment cells. This
            protein is thought to be involved in intracellular signal
            transduction mechanisms. Mutations in this gene cause ocular
            albinism type 1, also referred to as Nettleship-Falls type ocular
            albinism, a severe visual disorder. A related pseudogene has been
            identified on chromosome Y. [provided by RefSeq, Dec 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1645
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..1645
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="G protein-coupled receptor 143"
                     /db_xref="GeneID:4935"
                     /db_xref="HGNC:HGNC:20145"
                     /db_xref="MIM:300808"
     CDS             31..1245
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="ocular albinism type 1 protein; ocular albinism 1"
                     /codon_start=1
                     /product="G-protein coupled receptor 143"
                     /protein_id="NP_000264.2"
                     /db_xref="CCDS:CCDS14134.2"
                     /db_xref="GeneID:4935"
                     /db_xref="HGNC:HGNC:20145"
                     /db_xref="MIM:300808"
                     /translation="MASPRLGTFCCPTRDAATQLVLSFQPRAFHALCLGSGGLRLALGL
                     LQLLPGRRPAGPGSPATSPPASVRILRAAAACDLLGCLGMVIRSTVWLGFPNFVDSVSD
                     MNHTEIWPAAFCVGSAMWIQLLYSACFWWLFCYAVDAYLVIRRSAGLSTILLYHIMAWG
                     LATLLCVEGAAMLYYPSVSRCERGLDHAIPHYVTMYLPLLLVLVANPILFQKTVTAVAS
                     LLKGRQGIYTENERRMGAVIKIRFFKIMLVLIICWLSNIINESLLFYLEMQTDINGGSL
                     KPVRTAAKTTWFIMGILNPAQGFLLSLAFYGWTGCSLGFQSPRKEIQWESLTTSAAEGA
                     HPSPLMPHENPASGKVSQVGGQTSDEALSMLSEGSDASTIEIHTASESCNKNEGDPALP
                     THGDL"
     misc_feature    115..177
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="propagated from UniProtKB/Swiss-Prot (P51810.2);
                     transmembrane region"
     misc_feature    265..327
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="propagated from UniProtKB/Swiss-Prot (P51810.2);
                     transmembrane region"
     misc_feature    346..348
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51810.2); glycosylation site"
     misc_feature    403..465
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="propagated from UniProtKB/Swiss-Prot (P51810.2);
                     transmembrane region"
     misc_feature    478..540
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="propagated from UniProtKB/Swiss-Prot (P51810.2);
                     transmembrane region"
     misc_feature    604..666
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="propagated from UniProtKB/Swiss-Prot (P51810.2);
                     transmembrane region"
     misc_feature    691..744
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="propagated from UniProtKB/Swiss-Prot (P51810.2);
                     Region: Necessary for its G protein-activation ability and
                     normal distribution of melanosomes"
     misc_feature    694..723
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="propagated from UniProtKB/Swiss-Prot (P51810.2);
                     Region: lysosomal/melanosomal membrane localization signal"
     misc_feature    775..837
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="propagated from UniProtKB/Swiss-Prot (P51810.2);
                     transmembrane region"
     misc_feature    907..969
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="propagated from UniProtKB/Swiss-Prot (P51810.2);
                     transmembrane region"
     misc_feature    1015..1020
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="propagated from UniProtKB/Swiss-Prot (P51810.2);
                     Region: lysosomal/melanosomal membrane localization signal"
     misc_feature    1042..1242
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="propagated from UniProtKB/Swiss-Prot (P51810.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1559..1564
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="hexamer: AATAAA"
     polyA_site      1578
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="major polyA site"
     regulatory      1626..1631
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="hexamer: AATAAA"
     polyA_site      1645
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
ORIGIN
        1 acacccgagc cgcgtccgcg aacacagccc atggcctccc cgcgcctagg gaccttctgc
       61 tgccccacgc gggacgcagc cacgcagctc gtgctgagct tccagccgcg ggccttccac
      121 gcgctctgcc tgggcagcgg cgggctccgc ttggcgctgg gccttctgca gctgctgccc
      181 ggccgccggc ccgcgggccc cgggtccccc gcgacgtccc cgccggcctc ggtccgcatc
      241 ctgcgcgctg ccgctgcctg cgaccttctc ggctgcctgg gtatggtgat ccggtccacc
      301 gtgtggttag gattcccaaa ttttgttgac agcgtctcgg atatgaacca cacggaaatt
      361 tggcctgctg ctttctgcgt ggggagtgcg atgtggatcc agctgttgta cagtgcctgc
      421 ttctggtggc tgttttgcta tgcagtggat gcttatctgg tgatccggag atcggcagga
      481 ctgagcacca tcctgctgta tcacatcatg gcgtggggcc tggccaccct gctctgtgtg
      541 gagggagccg ccatgctcta ctacccttcc gtgtccaggt gtgagcgggg cctggaccac
      601 gccatccccc actatgtcac catgtacctg cccctgctgc tggttctcgt ggcgaacccc
      661 atcctgttcc aaaagacagt gactgcagtg gcctctttac ttaaaggaag acaaggcatt
      721 tacacggaga acgagaggag gatgggagcc gtgatcaaga tccgattttt caaaatcatg
      781 ctggttttaa ttatttgttg gttgtcgaat atcatcaatg aaagcctttt attctatctt
      841 gagatgcaaa cagatatcaa tggaggttct ttgaaacctg tcagaactgc agccaagacc
      901 acatggttta ttatgggaat cctgaatcca gcccagggat ttctcttgtc tttggccttc
      961 tacggctgga caggatgcag cctgggtttt cagtctccca ggaaggagat ccagtgggaa
     1021 tcactgacca cctcggctgc tgagggggct cacccatccc cactgatgcc ccatgaaaac
     1081 cctgcttccg ggaaggtgtc tcaagtgggt gggcagactt ctgacgaagc cctgagcatg
     1141 ctgtctgaag gttctgatgc cagcacaatt gaaattcaca ctgcaagtga atcctgcaac
     1201 aaaaatgagg gtgaccctgc tctcccaacc catggagacc tatgaagggg atgtgctggg
     1261 ggtccagacc ccatattcct cagactcaac aattcttgtt ctttagaact gtgttctcac
     1321 cttcccaaca ctgcactgcc gaagtgtagc ggcccccaaa ccttgctctc atcaccagct
     1381 agagcttctt cccgaagggc ctttaggata ggagaaaggg ttcatgcaca cacgtgtgag
     1441 aatggaagag ccccctccag accactctac agctgctcta gccttagttg ccactaggaa
     1501 gttttctgag gctggctgta aagtaagtgt aaggtccaca tccttgggga agtagttaaa
     1561 taaaatagtt atgactgagc tctcagcctg acttggattc tgtcttaaca cttctagcaa
     1621 aagaaaataa atacatgtac agtta
//
LOCUS       NM_000274               2039 bp    mRNA    linear   PRI 20-APR-2023
DEFINITION  Homo sapiens ornithine aminotransferase (OAT), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000274
VERSION     NM_000274.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2039)
  AUTHORS   Lee MS, Dennis C, Naqvi I, Dailey L, Lorzadeh A, Ye G, Zaytouni T,
            Adler A, Hitchcock DS, Lin L, Hoffman MT, Bhuiyan AM, Barth JL,
            Machacek ME, Mino-Kenudson M, Dougan SK, Jadhav U, Clish CB and
            Kalaany NY.
  TITLE     Ornithine aminotransferase supports polyamine synthesis in
            pancreatic cancer
  JOURNAL   Nature 616 (7956), 339-347 (2023)
   PUBMED   36991126
  REMARK    GeneRIF: Ornithine aminotransferase supports polyamine synthesis in
            pancreatic cancer.
REFERENCE   2  (bases 1 to 2039)
  AUTHORS   Floriani F, Borri Voltattorni C, Cellini B and Montioli R.
  TITLE     Biochemical and Bioinformatic Studies of Mutations of Residues at
            the Monomer-Monomer Interface of Human Ornithine Aminotransferase
            Leading to Gyrate Atrophy of Choroid and Retina
  JOURNAL   Int J Mol Sci 24 (4), 3369 (2023)
   PUBMED   36834788
  REMARK    GeneRIF: Biochemical and Bioinformatic Studies of Mutations of
            Residues at the Monomer-Monomer Interface of Human Ornithine
            Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2039)
  AUTHORS   Akaki Y, Hotta Y, Mashima Y, Murakami A, Kennaway NG, Weleber RG and
            Inana G.
  TITLE     A deletion in the ornithine aminotransferase gene in gyrate atrophy
  JOURNAL   J Biol Chem 267 (18), 12950-12954 (1992)
   PUBMED   1618792
REFERENCE   4  (bases 1 to 2039)
  AUTHORS   Michaud J, Brody LC, Steel G, Fontaine G, Martin LS, Valle D and
            Mitchell G.
  TITLE     Strand-separating conformational polymorphism analysis: efficacy of
            detection of point mutations in the human ornithine
            delta-aminotransferase gene
  JOURNAL   Genomics 13 (2), 389-394 (1992)
   PUBMED   1612597
REFERENCE   5  (bases 1 to 2039)
  AUTHORS   Ramesh V, Gusella JF and Shih VE.
  TITLE     Molecular pathology of gyrate atrophy of the choroid and retina due
            to ornithine aminotransferase deficiency
  JOURNAL   Mol Biol Med 8 (1), 81-93 (1991)
   PUBMED   1682785
  REMARK    Review article
REFERENCE   6  (bases 1 to 2039)
  AUTHORS   Kobayashi T, Nishii M, Takagi Y, Titani K and Matsuzawa T.
  TITLE     Molecular cloning and nucleotide sequence analysis of mRNA for human
            kidney ornithine aminotransferase. An examination of ornithine
            aminotransferase isozymes between liver and kidney
  JOURNAL   FEBS Lett 255 (2), 300-304 (1989)
   PUBMED   2507357
REFERENCE   7  (bases 1 to 2039)
  AUTHORS   Mitchell GA, Looney JE, Brody LC, Steel G, Suchanek M, Engelhardt
            JF, Willard HF and Valle D.
  TITLE     Human ornithine-delta-aminotransferase. cDNA cloning and analysis of
            the structural gene
  JOURNAL   J Biol Chem 263 (28), 14288-14295 (1988)
   PUBMED   3170546
REFERENCE   8  (bases 1 to 2039)
  AUTHORS   Barrett,D.J., Bateman,J.B., Sparkes,R.S., Mohandas,T., Klisak,I. and
            Inana,G.
  TITLE     Chromosomal localization of human ornithine aminotransferase gene
            sequences to 10q26 and Xp11.2
  JOURNAL   Invest Ophthalmol Vis Sci 28 (7), 1037-1042 (1987)
   PUBMED   3596985
REFERENCE   9  (bases 1 to 2039)
  AUTHORS   Simmaco,M., John,R.A., Barra,D. and Bossa,F.
  TITLE     The primary structure of ornithine aminotransferase. Identification
            of active-site sequence and site of post-translational proteolysis
  JOURNAL   FEBS Lett 199 (1), 39-42 (1986)
   PUBMED   3754226
REFERENCE   10  (bases 1 to 2039)
  AUTHORS   Inana,G., Totsuka,S., Redmond,M., Dougherty,T., Nagle,J., Shiono,T.,
            Ohura,T., Kominami,E. and Katunuma,N.
  TITLE     Molecular cloning of human ornithine aminotransferase mRNA
  JOURNAL   Proc Natl Acad Sci U S A 83 (5), 1203-1207 (1986)
   PUBMED   3456579
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M12267.1, AK312561.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000368845.6/ ENSP00000357838.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB459793.1, BC016928.1 and
            R37569.1.
            On Aug 31, 2019 this sequence version replaced NM_000274.3.
            Summary: This gene encodes the mitochondrial enzyme ornithine
            aminotransferase, which is a key enzyme in the pathway that
            converts arginine and ornithine into the major excitatory and
            inhibitory neurotransmitters glutamate and GABA. Mutations that
            result in a deficiency of this enzyme cause the autosomal recessive
            eye disease Gyrate Atrophy. Alternatively spliced transcript
            variants encoding different isoforms have been described. Related
            pseudogenes have been defined on the X chromosome. [provided by
            RefSeq, Jan 2010].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2039
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.13"
     gene            1..2039
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /note="ornithine aminotransferase"
                     /db_xref="GeneID:4942"
                     /db_xref="HGNC:HGNC:8091"
                     /db_xref="MIM:613349"
     misc_feature    12..14
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /note="upstream in-frame stop codon"
     CDS             81..1400
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /EC_number="2.6.1.13"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; gyrate atrophy; ornithine-oxo-acid aminotransferase;
                     ornithine aminotransferase, mitochondrial; ornithine
                     delta-aminotransferase; testicular tissue protein Li 130"
                     /codon_start=1
                     /product="ornithine aminotransferase, mitochondrial isoform
                     1 precursor"
                     /protein_id="NP_000265.1"
                     /db_xref="CCDS:CCDS7639.1"
                     /db_xref="GeneID:4942"
                     /db_xref="HGNC:HGNC:8091"
                     /db_xref="MIM:613349"
                     /translation="MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFE
                     REYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFDFLSSYSAVNQGHCHPKIVNALKSQ
                     VDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTVKGI
                     QKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDP
                     NVAAFMVEPIQGEAGVVVPDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYE
                     NVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHGSTYGGNPLGCRVAIAALEVL
                     EEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRD
                     NGLLAKPTHGDIIRFAPPLVIKEDELRESIEIINKTILSF"
     regulatory      2016..2021
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /note="hexamer: AATAAA"
     polyA_site      2039
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /note="major polyA site"
ORIGIN
        1 gttgcgcttc atagacgccg cgtgtacccg gttgtcctca ggcgctgtca gatctgtggt
       61 ttttctactt gaaggacaca atgttttcca aactagcaca tttgcagagg tttgctgtac
      121 ttagtcgcgg agttcattct tcagtggctt ctgctacatc tgttgcaact aaaaaaacag
      181 tccaaggccc tccaacctct gatgacattt ttgaaaggga atataagtat ggtgcacaca
      241 actaccatcc tttacctgta gccctggaga gaggaaaagg tatttactta tgggatgtag
      301 aaggcagaaa atattttgac ttcctgagtt cttacagtgc tgtcaaccaa gggcattgtc
      361 accccaagat tgtgaatgct ctgaagagtc aagtggacaa attgacctta acatctagag
      421 ctttctataa taacgtactt ggtgaatatg aggagtatat tactaaactt ttcaactacc
      481 acaaagttct tcctatgaat acaggagtgg aggctggaga gactgcctgt aaactagctc
      541 gtaagtgggg ctataccgtg aagggcattc agaaatacaa agcaaagatt gtttttgcag
      601 ctgggaactt ctggggtagg acgttgtctg ctatctccag ttccacagac ccaaccagtt
      661 acgatggttt tggaccattt atgccgggat tcgacatcat tccctataat gatctgcccg
      721 cactggagcg tgctcttcag gatccaaatg tggctgcgtt catggtagaa ccaattcagg
      781 gtgaagcagg cgttgttgtt ccggatccag gttacctaat gggagtgcga gagctctgca
      841 ccaggcacca ggttctcttt attgctgatg aaatacagac aggattggcc agaactggta
      901 gatggctggc tgttgattat gaaaatgtca gacctgatat agtcctcctt ggaaaggccc
      961 tttctggggg cttataccct gtgtctgcag tgctgtgtga tgatgacatc atgctgacca
     1021 ttaagccagg ggagcatggg tccacatacg gtggcaatcc actaggctgc cgagtggcca
     1081 tcgcagccct tgaggtttta gaagaagaaa accttgctga aaatgcagac aaattgggca
     1141 ttatcttgag aaatgaactc atgaagctac cttctgatgt tgtaactgcc gtaagaggaa
     1201 aaggattatt aaacgctatt gtcattaaag aaaccaaaga ttgggatgct tggaaggtgt
     1261 gtctacgact tcgagataat ggacttctgg ccaagccaac ccatggcgac attatcaggt
     1321 ttgcgcctcc gctggtgatc aaggaggatg agcttcgaga gtccattgaa attattaaca
     1381 agaccatctt gtctttctga gggtagccag ctgttttcag tggtccctgg gagccagctg
     1441 gagacaggtg gtcctgtaaa agctttattc ctaatgtggg cacattccac tcccatgagt
     1501 cttcaaaaac tttttttttg aatatatttt tttcagttga tacataatag aacaacgttt
     1561 atgaacctgc cgtttgcttt gtaacgtaac taaataatgt aatggcatct atattcagtt
     1621 gaagtgtttt gatgtgcatg tgtacttcct aaggtgaaat gcatctatat acagacagcc
     1681 tctaaatcaa gtccttcagt ataattgata tatgttttta taatttcctc actggtataa
     1741 gtgtttcata tttgaaaaag ttatctctgg gtattgcata aaaggcttca tcttataaag
     1801 tgaaatcatt gttattgaat tttaggaagg attaatggtt aagtgtatat aaaatactaa
     1861 tattaagtaa acttcatatt ggccaacacc agggttgtat tctatggatg tcattatttt
     1921 gaattaagaa ttagtgttta acattcctaa attgttttga gtgcttgatt ataatttgta
     1981 aaaaatgttt attttcaata cttctttaaa tttaaaataa agcttatatt tcaaatgtc
//
LOCUS       NM_000275               3143 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens OCA2 melanosomal transmembrane protein (OCA2),
            transcript variant 1, mRNA.
ACCESSION   NM_000275
VERSION     NM_000275.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3143)
  AUTHORS   Ang KC, Canfield VA, Foster TC, Harbaugh TD, Early KA, Harter RL,
            Reid KP, Leong SL, Kawasawa Y, Liu D, Hawley JW and Cheng KC.
  TITLE     Native American genetic ancestry and pigmentation allele
            contributions to skin color in a Caribbean population
  JOURNAL   Elife 12, e77514 (2023)
   PUBMED   37294081
  REMARK    GeneRIF: Native American genetic ancestry and pigmentation allele
            contributions to skin color in a Caribbean population. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 3143)
  AUTHORS   Bai M, Ke S, Yu H, Xu Y, Yu Y, Lu S, Wang C, Huang J, Ma Y, Dai W
            and Wu Y.
  TITLE     Key molecules associated with thyroid carcinoma prognosis: A study
            based on transcriptome sequencing and GEO datasets
  JOURNAL   Front Immunol 13, 964891 (2022)
   PUBMED   36059514
  REMARK    GeneRIF: Key molecules associated with thyroid carcinoma prognosis:
            A study based on transcriptome sequencing and GEO datasets.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3143)
  AUTHORS   Shakil M, Akbar A, Aisha NM, Hussain I, Ullah MI, Atif M, Kaul H,
            Amar A, Latif MZ, Qureshi MA and Mahmood S.
  TITLE     Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and
            HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani
            Families
  JOURNAL   Genes (Basel) 13 (3), 503 (2022)
   PUBMED   35328057
  REMARK    GeneRIF: Delineating Novel and Known Pathogenic Variants in TYR,
            OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA)
            Pakistani Families. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3143)
  AUTHORS   Lee ST, Nicholls RD, Jong MT, Fukai K and Spritz RA.
  TITLE     Organization and sequence of the human P gene and identification of
            a new family of transport proteins
  JOURNAL   Genomics 26 (2), 354-363 (1995)
   PUBMED   7601462
REFERENCE   5  (bases 1 to 3143)
  AUTHORS   Rinchik EM, Bultman SJ, Horsthemke B, Lee ST, Strunk KM, Spritz RA,
            Avidano KM, Jong MT and Nicholls RD.
  TITLE     A gene for the mouse pink-eyed dilution locus and for human type II
            oculocutaneous albinism
  JOURNAL   Nature 361 (6407), 72-76 (1993)
   PUBMED   8421497
REFERENCE   6  (bases 1 to 3143)
  AUTHORS   Thomas,M.G., Zippin,J. and Brooks,B.P.
  TITLE     Oculocutaneous Albinism and Ocular Albinism Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   37053367
REFERENCE   7  (bases 1 to 3143)
  AUTHORS   Lewis,R.A.
  TITLE     Oculocutaneous Albinism Type 2 - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301410
REFERENCE   8  (bases 1 to 3143)
  AUTHORS   Ramsay M, Colman MA, Stevens G, Zwane E, Kromberg J, Farrall M and
            Jenkins T.
  TITLE     The tyrosinase-positive oculocutaneous albinism locus maps to
            chromosome 15q11.2-q12
  JOURNAL   Am J Hum Genet 51 (4), 879-884 (1992)
   PUBMED   1415228
REFERENCE   9  (bases 1 to 3143)
  AUTHORS   Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA and
            Brilliant MH.
  TITLE     The mouse pink-eyed dilution gene: association with human
            Prader-Willi and Angelman syndromes
  JOURNAL   Science 257 (5073), 1121-1124 (1992)
   PUBMED   1509264
REFERENCE   10  (bases 1 to 3143)
  AUTHORS   Ludowese CJ, Thompson KJ, Sekhon GS and Pauli RM.
  TITLE     Absence of predictable phenotypic expression in proximal 15q
            duplications
  JOURNAL   Clin Genet 40 (3), 194-201 (1991)
   PUBMED   1773534
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M99564.1, SRR14038194.168093.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000354638.8/ ENSP00000346659.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135329.12, BC012097.1 and
            M99564.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000275.2.
            Summary: This gene encodes the human homolog of the mouse p
            (pink-eyed dilution) gene. The encoded protein is believed to be an
            integral membrane protein involved in small molecule transport,
            specifically tyrosine, which is a precursor to melanin synthesis.
            It is involved in mammalian pigmentation, where it may control skin
            color variation and act as a determinant of brown or blue eye
            color. Mutations in this gene result in type 2 oculocutaneous
            albinism. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jul 2014].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3143
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q12-q13.1"
     gene            1..3143
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="OCA2 melanosomal transmembrane protein"
                     /db_xref="GeneID:4948"
                     /db_xref="HGNC:HGNC:8101"
                     /db_xref="MIM:611409"
     CDS             114..2630
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="isoform 1 is encoded by transcript variant 1; eye
                     color 2 (central brown); hair color 3 (brown);
                     oculocutaneous albinism II (pink-eye dilution homolog,
                     mouse); eye color 3 (brown); melanocyte-specific
                     transporter protein; total brown iris pigmentation;
                     pink-eyed dilution protein homolog; P-protein"
                     /codon_start=1
                     /product="P protein isoform 1"
                     /protein_id="NP_000266.2"
                     /db_xref="CCDS:CCDS10020.1"
                     /db_xref="GeneID:4948"
                     /db_xref="HGNC:HGNC:8101"
                     /db_xref="MIM:611409"
                     /translation="MHLEGRDGRRYPGAPAVELLQTSVPSGLAELVAGKRRLPRGAGGA
                     DPSHSCPRGAAGQSSWAPAGQEFASFLTKGRSHSSLPQMSSSRSKDSCFTENTPLLRNS
                     LQEKGSRCIPVYHPEFITAEESWEDSSADWERRYLLSREVSGLSASASSEKGDLLDSPH
                     IRLRLSKLRRCVQWLKVMGLFAFVVLCSILFSLYPDQGKLWQLLALSPLENYSVNLSSH
                     VDSTLLQVDLAGALVASGPSRPGREEHIVVELTQADALGSRWRRPQQVTHNWTVYLNPR
                     RSEHSVMSRTFEVLTRETVSISIRASLQQTQAVPLLMAHQYLRGSVETQVTIATAILAG
                     VYALIIFEIVHRTLAAMLGSLAALAALAVIGDRPSLTHVVEWIDFETLALLFGMMILVA
                     IFSETGFFDYCAVKAYRLSRGRVWAMIIMLCLIAAVLSAFLDNVTTMLLFTPVTIRLCE
                     VLNLDPRQVLIAEVIFTNIGGAATAIGDPPNVIIVSNQELRKMGLDFAGFTAHMFIGIC
                     LVLLVCFPLLRLLYWNRKLYNKEPSEIVELKHEIHVWRLTAQRISPASREETAVRRLLL
                     GKVLALEHLLARRLHTFHRQISQEDKNWETNIQELQKKHRISDGILLAKCLTVLGFVIF
                     MFFLNSFVPGIHLDLGWIAILGAIWLLILADIHDFEIILHRVEWATLLFFAALFVLMEA
                     LAHLHLIEYVGEQTALLIKMVPEEQRLIAAIVLVVWVSALASSLIDNIPFTATMIPVLL
                     NLSHDPEVGLPAPPLMYALAFGACLGGNGTLIGASANVVCAGIAEQHGYGFSFMEFFRL
                     GFPMMVVSCTVGMCYLLVAHVVVGWN"
     misc_feature    225..293
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04671.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    333..395
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04671.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    651..704
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04671.2);
                     transmembrane region"
     misc_feature    753..755
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q04671.2); glycosylation site"
     misc_feature    765..767
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q04671.2); glycosylation site"
     misc_feature    930..932
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q04671.2); glycosylation site"
     misc_feature    1104..1154
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04671.2);
                     transmembrane region"
     misc_feature    1173..1223
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04671.2);
                     transmembrane region"
     misc_feature    1266..1316
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04671.2);
                     transmembrane region"
     misc_feature    1383..1433
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04671.2);
                     transmembrane region"
     misc_feature    1437..1439
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q04671.2); glycosylation site"
     misc_feature    1653..1703
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04671.2);
                     transmembrane region"
     misc_feature    1974..2024
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04671.2);
                     transmembrane region"
     misc_feature    2055..2105
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04671.2);
                     transmembrane region"
     misc_feature    2151..2201
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04671.2);
                     transmembrane region"
     misc_feature    2274..2324
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04671.2);
                     transmembrane region"
     misc_feature    2394..2444
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04671.2);
                     transmembrane region"
     misc_feature    2454..2456
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q04671.2); glycosylation site"
     misc_feature    2565..2615
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04671.2);
                     transmembrane region"
     regulatory      3122..3127
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="hexamer: AATAAA"
     polyA_site      3143
                     /gene="OCA2"
                     /gene_synonym="BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2;
                     EYCL3; HCL3; P; PED; SHEP1"
                     /note="major polyA site"
ORIGIN
        1 gttcttactt cgaaggctgt gctccgctca ccatccagag cggaggtgcg gaccttaaac
       61 tcactcctgg agaaagatct gcaagtgcgc agagagaaga ctggcagtgg agcatgcatc
      121 tggagggcag agacggcagg cggtaccccg gcgcgccggc ggtggagctc ctgcagacgt
      181 ccgtgcccag cggactcgct gaacttgtgg ccggcaagcg caggcttcct cggggagccg
      241 gtggagctga cccctcgcac tcctgcccca ggggggctgc cgggcagagc tcttgggctc
      301 ctgcaggcca ggagtttgct tcattcctca caaaagggag gtctcactct tctttgcccc
      361 agatgtccag ctccaggtct aaagattcct gctttacaga aaacactcct ttgctgagga
      421 attccttaca ggagaaaggg tcacggtgca tacctgttta ccatccagag ttcatcactg
      481 ctgaagagtc ttgggaagac agctctgctg actgggagcg aagatacctg ctaagcaggg
      541 aggtgtctgg tctgtctgca tctgcctcct ccgagaaggg agaccttctg gacagcccgc
      601 acatccgact ccgtctttcc aagctgaggc gctgtgtgca gtggctgaaa gtcatgggcc
      661 tgtttgcctt tgtggtgctg tgttctattt tgttcagcct atatccggat caaggaaagc
      721 tctggcagct gttggcctta tcaccgctgg agaactactc cgtgaacctt agcagccacg
      781 tggactccac gctgctgcag gtggacctgg caggggccct agtggccagt gggccgagtc
      841 gtcctgggag ggaagagcac atcgtggtgg agctgaccca ggctgacgct ttgggctcca
      901 ggtggcggcg gccacagcag gtcactcaca actggacggt gtatttaaat ccgaggagaa
      961 gcgagcactc agtgatgagc aggacctttg aggtactgac cagagagacg gtgtccatca
     1021 gcatccgggc ctccctgcag cagacccagg ctgtccctct tttgatggct catcagtacc
     1081 tccgcggaag tgtagaaacc caggtgacca tcgcgacggc catcctcgcg ggcgtctacg
     1141 cgctgatcat atttgagatc gtgcacagaa ctctggcggc catgctgggt tcccttgcag
     1201 cactggcagc actggctgtg attggcgata gacccagcct gacccatgtg gtggagtgga
     1261 ttgattttga gacgctggcc ctgctgtttg gcatgatgat cttagtagcc atattttcag
     1321 aaacgggatt tttcgattat tgtgctgtaa aggcataccg gctctcccgg ggacgggtgt
     1381 gggccatgat catcatgctc tgtctcatcg cggccgtcct ctctgccttc ttggacaacg
     1441 tcaccaccat gctcctcttc acgcctgtga ccataaggtt gtgtgaggtg ctcaaccttg
     1501 atccaagaca agtcctgatt gcagaagtga tcttcacaaa cattggagga gctgccactg
     1561 ccatcgggga ccctccaaat gtcattattg tttccaacca agagctgagg aagatgggcc
     1621 tggactttgc cggattcact gcacacatgt tcattgggat ttgccttgtt ctcctggtct
     1681 gctttccgct cctcagactc ctttactgga acagaaagct ttataacaag gaacccagtg
     1741 agattgttga actgaagcac gagattcacg tctggcgcct gactgctcag cgcatcagcc
     1801 cggccagccg cgaggagaca gctgtgcgcc gcctgctgct ggggaaggtg ctggcactgg
     1861 agcacctgct cgcccggagg ctgcacacct tccacagaca gatctcacag gaggacaaaa
     1921 attgggagac caatatccaa gaactccaaa aaaagcatag gatatctgac gggattctgc
     1981 tcgccaaatg cctgacagtg ttgggatttg ttatcttcat gtttttcctc aattcgtttg
     2041 tccctggcat tcatcttgat cttggatgga ttgctattct gggtgccatc tggttgctaa
     2101 ttttagctga tattcatgat tttgagataa ttctacacag agtggaatgg gcaacccttc
     2161 tgttttttgc agcgctcttt gttctgatgg aggcattggc acatctccac ttaatagaat
     2221 atgttggaga acaaactgct ttgctaataa agatggtccc agaggagcag cgcctcatag
     2281 ccgccattgt cctggtggtg tgggtctcag ccctggcgtc gtccctgatt gacaacatcc
     2341 cgttcactgc taccatgatt cccgtgctcc tgaacctgag ccacgaccct gaggttggcc
     2401 tgcccgcacc gccgctcatg tatgccctgg ccttcggtgc ttgcctggga ggtaacggga
     2461 cactgattgg cgcgtcggca aacgtcgtgt gtgcagggat tgcagaacag catggatatg
     2521 ggttctcctt catggaattt ttcaggctgg gcttcccaat gatggttgtg tcctgcactg
     2581 ttgggatgtg ttatctcctt gtggctcatg tggtggtggg atggaattaa tagacatcca
     2641 tctattgctc gaagactaaa ggaaacttca tccatcacaa cccattagtc ataaaactac
     2701 cctgacccca ctgtttgaag aagaaaaggt gcttaccctg gagatgctac agagacacag
     2761 tggaatagac cttgacacta acactctaat tcaagcgaat gttggaacac catgacctcc
     2821 tctgtgtgtc ctttctcccc aaggacaaaa tgtagaaaga tgtgagataa cttactcaag
     2881 attcccctcc agaaaaatac gtatgtttaa aaacccttcc tgctatacat aggaaaagac
     2941 acacatccac ctaaaattga ctgtactgtt taactgtcaa ttctcctgag gctaaacaca
     3001 gtttgttttt cttgtaatca cttttcatgt taaaataatc agcattcaaa ttgtatgctt
     3061 tctgaatata gactttctgg gaaaaggttt actgctcgta aggaaacatt ttatgtatta
     3121 aaataaactg ttccttgata aaa
//
LOCUS       NM_000276               5173 bp    mRNA    linear   PRI 13-JUL-2023
DEFINITION  Homo sapiens OCRL inositol polyphosphate-5-phosphatase (OCRL),
            transcript variant a, mRNA.
ACCESSION   NM_000276
VERSION     NM_000276.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5173)
  AUTHORS   Chen H, Lu C, Tan Y, Weber-Boyvat M, Zheng J, Xu M, Xiao J, Liu S,
            Tang Z, Lai C, Li M, Olkkonen VM, Yan D and Zhong W.
  TITLE     Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell
            survival by preventing excessive PI(4,5)P2 hydrolysis in the plasma
            membrane
  JOURNAL   J Biol Chem 299 (6), 104812 (2023)
   PUBMED   37172724
  REMARK    GeneRIF: Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic
            T-cell survival by preventing excessive PI(4,5)P2 hydrolysis in the
            plasma membrane.
REFERENCE   2  (bases 1 to 5173)
  AUTHORS   Lee JJ, Ramadesikan S, Black AF, Christoffer C, Pacheco AFP,
            Subramanian S, Hanna CB, Barth G, Stauffacher CV, Kihara D and
            Aguilar RC.
  TITLE     Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase
            Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity
            of Cellular Phenotypes
  JOURNAL   Biomolecules 13 (4), 615 (2023)
   PUBMED   37189363
  REMARK    GeneRIF: Heterogeneity in Lowe Syndrome: Mutations Affecting the
            Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity
            and Severity of Cellular Phenotypes. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5173)
  AUTHORS   Zhang L, Wang S, Mao R, Fu H, Wang J, Shen H, Lu Z, Chen J, Bao Y,
            Feng C, Lai EY, Ye Q and Mao J.
  TITLE     Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with
            OCRL Mutations
  JOURNAL   Genet Res (Camb) 2022, 1473260 (2022)
   PUBMED   35919034
  REMARK    GeneRIF: Genotype-Phenotype Correlation Reanalysis in 83 Chinese
            Cases with OCRL Mutations. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5173)
  AUTHORS   Nussbaum RL, Orrison BM, Janne PA, Charnas L and Chinault AC.
  TITLE     Physical mapping and genomic structure of the Lowe syndrome gene
            OCRL1
  JOURNAL   Hum Genet 99 (2), 145-150 (1997)
   PUBMED   9048911
REFERENCE   5  (bases 1 to 5173)
  AUTHORS   Zhang X, Jefferson AB, Auethavekiat V and Majerus PW.
  TITLE     The protein deficient in Lowe syndrome is a
            phosphatidylinositol-4,5-bisphosphate 5-phosphatase
  JOURNAL   Proc Natl Acad Sci U S A 92 (11), 4853-4856 (1995)
   PUBMED   7761412
REFERENCE   6  (bases 1 to 5173)
  AUTHORS   Lieske,J.C., Milliner,D.S., Beara-Lasic,L., Harris,P., Cogal,A. and
            Abrash,E.
  TITLE     Dent Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   22876375
REFERENCE   7  (bases 1 to 5173)
  AUTHORS   Lewis,R.A., Nussbaum,R.L. and Brewer,E.D.
  TITLE     Lowe Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301653
REFERENCE   8  (bases 1 to 5173)
  AUTHORS   Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA,
            McInnes RR and Nussbaum RL.
  TITLE     The Lowe's oculocerebrorenal syndrome gene encodes a protein highly
            homologous to inositol polyphosphate-5-phosphatase
  JOURNAL   Nature 358 (6383), 239-242 (1992)
   PUBMED   1321346
REFERENCE   9  (bases 1 to 5173)
  AUTHORS   Mueller OT, Hartsfield JK Jr, Gallardo LA, Essig YP, Miller KL,
            Papenhausen PR and Tedesco TA.
  TITLE     Lowe oculocerebrorenal syndrome in a female with a balanced X;20
            translocation: mapping of the X chromosome breakpoint
  JOURNAL   Am J Hum Genet 49 (4), 804-810 (1991)
   PUBMED   1897526
REFERENCE   10  (bases 1 to 5173)
  AUTHORS   Duden R, Griffiths G, Frank R, Argos P and Kreis TE.
  TITLE     Beta-COP, a 110 kd protein associated with non-clathrin-coated
            vesicles and the Golgi complex, shows homology to beta-adaptin
  JOURNAL   Cell 64 (3), 649-665 (1991)
   PUBMED   1840503
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U57627.2, SRR1803616.230978.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467146,
            SAMN03267753 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371113.9/ ENSP00000360154.4
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138745.19, AL662877.5 and
            AL022162.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 26, 2018 this sequence version replaced NM_000276.3.
            Summary: This gene encodes an inositol polyphosphate 5-phosphatase.
            This protein is involved in regulating membrane trafficking and is
            located in numerous subcellular locations including the trans-Golgi
            network, clathrin-coated vesicles and, endosomes and the plasma
            membrane. This protein may also play a role in primary cilium
            formation. Mutations in this gene cause oculocerebrorenal syndrome
            of Lowe and also Dent disease. Alternate splicing results in
            multiple transcript variants. [provided by RefSeq, Jan 2016].
            Transcript Variant: This variant (a) encodes isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5173
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.1"
     gene            1..5173
                     /gene="OCRL"
                     /gene_synonym="Dent-2; DENT2; INPP5F; LOCR; NPHL2; OCRL-1;
                     OCRL1"
                     /note="OCRL inositol polyphosphate-5-phosphatase"
                     /db_xref="GeneID:4952"
                     /db_xref="HGNC:HGNC:8108"
                     /db_xref="MIM:300535"
     CDS             182..2887
                     /gene="OCRL"
                     /gene_synonym="Dent-2; DENT2; INPP5F; LOCR; NPHL2; OCRL-1;
                     OCRL1"
                     /EC_number="3.1.3.56"
                     /EC_number="3.1.3.36"
                     /EC_number="3.1.3.86"
                     /note="oculocerebrorenal syndrome of Lowe protein; isoform
                     a is encoded by transcript variant a; phosphatidylinositol
                     polyphosphate 5-phosphatase; inositol polyphosphate
                     5-phosphatase OCRL-1; Lowe oculocerebrorenal syndrome
                     protein; phosphatidylinositol 3,4,5-triphosphate
                     5-phosphatase"
                     /codon_start=1
                     /product="inositol polyphosphate 5-phosphatase OCRL isoform
                     a"
                     /protein_id="NP_000267.2"
                     /db_xref="CCDS:CCDS35393.1"
                     /db_xref="GeneID:4952"
                     /db_xref="HGNC:HGNC:8108"
                     /db_xref="MIM:300535"
                     /translation="MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQL
                     HEKEQHVQDIIPINSHFRCVQEAEETLLIDIASNSGCKIRVQGDWIRERRFEIPDEEHC
                     LKFLSAVLAAQKAQSQLLVPEQKDSSSWYQKLDTKDKPSVFSGLLGFEDNFSSMNLDKK
                     INSQNQPTGIHREPPPPPFSVNKMLPREKEASNKEQPKVTNTMRKLFVPNTQSGQREGL
                     IKHILAKREKEYVNIQTFRFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGFQELDL
                     STEAFFYFESVKEQEWSMAVERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCRYIRDIA
                     TETVGTGIMGKMGNKGGVAVRFVFHNTTFCIVNSHLAAHVEDFERRNQDYKDICARMSF
                     VVPNQTLPQLNIMKHEVVIWLGDLNYRLCMPDANEVKSLINKKDLQRLLKFDQLNIQRT
                     QKKAFVDFNEGEIKFIPTYKYDSKTDRWDSSGKCRVPAWCDRILWRGTNVNQLNYRSHM
                     ELKTSDHKPVSALFHIGVKVVDERRYRKVFEDSVRIMDRMENDFLPSLELSRREFVFEN
                     VKFRQLQKEKFQISNNGQVPCHFSFIPKLNDSQYCKPWLRAEPFEGYLEPNETVDISLD
                     VYVSKDSVTILNSGEDKIEDILVLHLDRGKDYFLTISGNYLPSCFGTSLEALCRMKRPI
                     REVPVTKLIDLEEDSFLEKEKSLLQMVPLDEGASERPLQVPKEIWLLVDHLFKYACHQE
                     DLFQTPGMQEELQQIIDCLDTSIPETIPGSNHSVAEALLIFLEALPEPVICYELYQRCL
                     DSAYDPRICRQVISQLPRCHRNVFRYLMAFLRELLKFSEYNSVNANMIATLFTSLLLRP
                     PPNLMARQTPSDRQRAIQFLLGFLLGSEED"
     misc_feature    398..412
                     /gene="OCRL"
                     /gene_synonym="Dent-2; DENT2; INPP5F; LOCR; NPHL2; OCRL-1;
                     OCRL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01968.3);
                     Region: Clathrin box 1"
     misc_feature    671..742
                     /gene="OCRL"
                     /gene_synonym="Dent-2; DENT2; INPP5F; LOCR; NPHL2; OCRL-1;
                     OCRL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01968.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    890..1870
                     /gene="OCRL"
                     /gene_synonym="Dent-2; DENT2; INPP5F; LOCR; NPHL2; OCRL-1;
                     OCRL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01968.3);
                     Region: 5-phosphatase"
     misc_feature    1871..2215
                     /gene="OCRL"
                     /gene_synonym="Dent-2; DENT2; INPP5F; LOCR; NPHL2; OCRL-1;
                     OCRL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01968.3);
                     Region: ASH"
     misc_feature    2285..2299
                     /gene="OCRL"
                     /gene_synonym="Dent-2; DENT2; INPP5F; LOCR; NPHL2; OCRL-1;
                     OCRL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01968.3);
                     Region: Clathrin box 2"
     misc_feature    2297..2320
                     /gene="OCRL"
                     /gene_synonym="Dent-2; DENT2; INPP5F; LOCR; NPHL2; OCRL-1;
                     OCRL1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Region: encoded by alternatively spliced exon 18a
                     found in brain isoform"
     regulatory      5154..5159
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OCRL"
                     /gene_synonym="Dent-2; DENT2; INPP5F; LOCR; NPHL2; OCRL-1;
                     OCRL1"
                     /note="hexamer: AATATA"
     polyA_site      5173
                     /gene="OCRL"
                     /gene_synonym="Dent-2; DENT2; INPP5F; LOCR; NPHL2; OCRL-1;
                     OCRL1"
                     /note="major polyA site"
ORIGIN
        1 ctctcttggg tcagattctc agctcccagc tccccgctcc cggctcccgg cgcccggcgc
       61 ccggcgcgga gctgttcctc aaacgacacg cagccgaggt gggtgggtgt ggggacgcgg
      121 gagccagtgt cgtcggatcg gcccgcagtc cgctgtcctg ctgagcccgg aggccgcctg
      181 gatggagccg ccgctcccgg tcggagccca gccgcttgcc actgtcgagg gtatggagat
      241 gaagggtcct ctccgggagc cctgcgccct gaccctagcc cagaggaacg ggcaatatga
      301 gttaataatc cagttgcatg agaaggaaca gcatgttcaa gatatcattc ctataaatag
      361 ccacttcaga tgtgttcaag aagcagaaga aactcttttg attgacatag cttctaacag
      421 tggctgcaaa attcgggttc agggggactg gatcagagag cgccgctttg aaatccctga
      481 tgaggaacac tgtttgaagt tcctctcagc tgtccttgct gctcagaaag ctcagtcaca
      541 gcttcttgtt ccagagcaaa aggactcatc tagctggtac cagaaattag acactaagga
      601 caaaccttct gttttttcag ggcttcttgg atttgaagac aatttttctt ctatgaattt
      661 ggacaagaaa ataaattcac aaaatcagcc tactgggatt catcgggaac ccccacctcc
      721 acccttttca gtgaataaaa tgcttccacg tgaaaaagaa gcttctaaca aggagcagcc
      781 caaagtgacc aacaccatgc ggaagctctt tgtaccaaat acccaatctg ggcagcggga
      841 gggtctcatc aaacatatcc tggcaaagcg agagaaagaa tatgtcaaca ttcagacttt
      901 cagatttttt gttggaactt ggaatgtgaa tggccagtct ccagatagcg ggttagaacc
      961 ttggctgaac tgtgatccca atcctcctga tatctactgc attggattcc aagaactgga
     1021 cttgagcaca gaagccttct tctactttga atctgtgaag gaacaagaat ggtccatggc
     1081 tgtagagaga ggtttgcatt ccaaagccaa gtataagaaa gttcaactgg tgcgccttgt
     1141 tgggatgatg cttcttatat ttgccagaaa ggatcagtgt cgatacattc gtgatattgc
     1201 tacagaaaca gttggaactg gaatcatggg gaaaatggga aacaaaggtg gggtagctgt
     1261 gagatttgta tttcacaaca ccaccttttg cattgtcaat tcccatctgg ctgcacacgt
     1321 ggaggacttt gagagaagga atcaagatta taaggacatt tgtgcgagaa tgagttttgt
     1381 ggtcccaaat cagaccctcc cgcagttgaa catcatgaaa catgaggttg tcatttggtt
     1441 gggagatttg aattatagac tttgcatgcc tgatgccaat gaggtgaaaa gtcttattaa
     1501 taagaaagac cttcagagac tcttgaaatt cgaccagcta aatattcagc gcacacagaa
     1561 aaaagctttt gttgacttca atgaagggga aatcaagttc atccccactt ataagtatga
     1621 ctctaaaaca gaccggtggg attccagtgg gaaatgccgg gttccagcct ggtgtgaccg
     1681 aattctttgg agaggaacaa atgttaatca gcttaattat cggagtcaca tggaactgaa
     1741 aaccagcgac cacaagcctg ttagcgccct cttccatatt ggggtgaagg ttgtggatga
     1801 acgaaggtac cggaaagtct ttgaagatag tgtacgcatc atggacagaa tggaaaatga
     1861 cttccttcct tccttagaac tcagcaggag ggagtttgtg tttgaaaatg tgaagtttcg
     1921 gcaactacaa aaggagaagt tccagatcag caacaatgga caggttccct gccatttttc
     1981 tttcatccct aaacttaatg acagccagta ctgcaagcca tggcttcggg ctgaaccttt
     2041 tgagggctac ttggagccaa atgagacagt ggacatttct cttgatgtgt atgtcagcaa
     2101 agactctgta accatcctga actcgggaga agataagatt gaagatattc tcgtccttca
     2161 cctggatcga ggcaaagatt acttcttgac tatcagtgga aattacctcc caagttgttt
     2221 tggcacatcc ttagaggctc tgtgccgtat gaaaagacca atccgagaag ttcctgttac
     2281 caaactcata gacttggaag aagacagctt cctagaaaag gagaaatccc ttctgcaaat
     2341 ggttcctttg gatgaaggtg ccagtgagag accccttcag gttcccaagg agatctggct
     2401 tctagtagat cacctattca aatacgcctg tcaccaggag gacctgttcc agacccctgg
     2461 aatgcaggaa gagctccagc agatcattga ttgtctggat accagcattc ctgagacaat
     2521 ccctggcagc aaccactctg tggctgaagc actgctcatt ttcttggaag ccctgccaga
     2581 gccagtcatc tgttacgagc tgtatcagcg atgtcttgac tctgcttatg atccccggat
     2641 ctgccgacag gtgatctccc agcttccgag atgccataga aatgttttcc gttacttgat
     2701 ggcattcctt cgagaactct taaaattctc tgaatacaat agcgtcaatg ccaacatgat
     2761 cgctactctc ttcactagtc ttctcctgag gcctccaccc aaccttatgg caagacagac
     2821 tccaagtgac cgccagcgtg ctattcagtt ccttctgggc tttctgcttg ggagcgaaga
     2881 agactaaggc ttttactgtt ctctgatatt ctagaagcag acgatctcgg gctccaagta
     2941 tttcagaatg atttaaaaag tcatgccaca ggaagggtct attgcagaat ttcaagttct
     3001 gtttatagta aaaaggaaga gcgtttccta atccctcctt taccatatcc tacacagaaa
     3061 aatactttta gacttatatt gccaagccaa agttaccata ttttggtgtt tttgtgtttt
     3121 ctctttataa ggcaaaaaga tctgtattta cactccttca cctagggatg tgtttgttgc
     3181 cctcctaccc aattgtcatg attgtcctta gtaccctagg cctagattct gagatcttcc
     3241 cattctaggc ctacaagcac tacttgctgt agctgagact tgtctagagt cctttgtttt
     3301 gcacttttga cccacccctt cctggatcac tcctttgcac tccactcccc tcgttctgtc
     3361 actttgaacg aagtctgagt gaggctagtg actccttggg tgtcctcaac agtgaattca
     3421 ctgtctgcgt gcagttatta catgcatttg tgcatttcta ctacaatggc atctttatgt
     3481 ctctgtaaca ttggcctttt catggctcca cactgggtgg aaccatattc tcttagatca
     3541 catttagtag cataactgta gggactatta gagatggcat ctcatcgatg agagagaatc
     3601 acaatcagaa tggaagcact ttgagtatct gaagagtgag agcattcatg tttgacaggt
     3661 cctgcttccc actatccttt tcctgttatt attcaaattt tacacaagga ctaatcctgg
     3721 gtgtctctga gacccatctc ctgcctagac atccacctcc agagcaacac tggccccaca
     3781 gtaaaagagg aagtcttgta cctcaggcag gcccatctag agctattgct ccttcccaca
     3841 gcaaaggtat tgtggatgac ccttagaatc cattctctgg tcttctgaaa taccaagggc
     3901 agatgtcacc tccttcctca gcaggactga ctctgggctc tacaaccagc tccttcacat
     3961 aaagggttta gagactcccc ttggctccca gtcaccatat ccagtgttgt gtaaagagac
     4021 tggccaacag gaccaaccaa gcaccttacc tctcccatac aagatgaccc tctgagcttt
     4081 tcatttattc aagctctgtg gtacagcctt tttttaaaat aaattaatct atattggttg
     4141 acaaacaagc caccaaccac tgactgcaaa actgcctgat gcagttgggt tcctcctggt
     4201 tttcttttgt tacaaccacc cttgcctgtt tacattaatt gcaaggagca taacgtacag
     4261 gctgtatgta caatcctggg cattgactct gtgacatttc tagcatatcc aaggcaccac
     4321 cagtgatttc tcctgtttct tggtgggggt gggggggaag gtacgtattc tgcaatatgg
     4381 ctaaaccctt tcctgattga gagttaaagc aataggagtc aagttactgg tgccacagat
     4441 ctggaggtat gataggtcag gggctaggtg ttgaacttag ttaatggaag actgagagca
     4501 gaacaggttt gtcatctccg caaggccaga aagtgatcac aaaaagaggc agatgataga
     4561 cactggggta gggtcatacc acagggaaat acctttcctg ggcttgtttt ctagcatatc
     4621 actgacctgg gatctttggg tgatcaaggg tgtggttagt ggaggctctg tgctgcacgt
     4681 atgcagtatc ctatctcttt ctacatcaga tcaaaacact aagttggtgt actgcctcga
     4741 ccttttttca gctcatcctg gaacatatac agagttgaga gttttagaca atctctaggt
     4801 agaggagaca agatgtagac ccagacagaa gaaatctgct tccctaccat ggctattcca
     4861 gcaccccaac ctgtaattgc caagtcctct aaggtactaa tttgtagctg ctctgaagta
     4921 aggatttcgg attcagctgg tagggaaaga ctctgcacct gctgtcttag ggaagaaatg
     4981 gttcaaatcc atgtggtgac attgcattag tctccctttc actgttttct tattctgtaa
     5041 ttgtttgtta tatttcccaa aaacgtcttg atcactaagc aaagctgcta gtgggattct
     5101 atatttcgtg tcatcttttt tattataatt tattgcaaat ttttttctga ataaatatat
     5161 gttgtgtgaa aaa
//
LOCUS       NM_000277               3759 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens phenylalanine hydroxylase (PAH), transcript variant 1,
            mRNA.
ACCESSION   NM_000277
VERSION     NM_000277.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3759)
  AUTHORS   Yu X, Liu F, Wei B, Li M, Lu R and Pan L.
  TITLE     Mutation Characteristics of Phenylalanine Hydroxylase Gene in
            Children with Phenylketonuria in Yinchuan City
  JOURNAL   Discov Med 35 (177), 533-538 (2023)
   PUBMED   37553307
  REMARK    GeneRIF: Mutation Characteristics of Phenylalanine Hydroxylase Gene
            in Children with Phenylketonuria in Yinchuan City.
REFERENCE   2  (bases 1 to 3759)
  AUTHORS   Zhang C, Yan Y, Zhou B, Wang Y, Tian X, Hao S, Ma P, Zheng L, Zhang
            Q, Hui L, Wang Y, Cao Z and Ma X.
  TITLE     Identification of deep intronic variants of PAH in phenylketonuria
            using full-length gene sequencing
  JOURNAL   Orphanet J Rare Dis 18 (1), 128 (2023)
   PUBMED   37237386
  REMARK    GeneRIF: Identification of deep intronic variants of PAH in
            phenylketonuria using full-length gene sequencing. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 3759)
  AUTHORS   Balobaid A, Imtiaz F, Ramzan K, Afzal S and AlSayed M.
  TITLE     Identification of Variants Underlying Phenylalanine Hydroxylase
            Deficiency in Saudi Arabia
  JOURNAL   Genet Test Mol Biomarkers 27 (5), 142-148 (2023)
   PUBMED   37257178
  REMARK    GeneRIF: Identification of Variants Underlying Phenylalanine
            Hydroxylase Deficiency in Saudi Arabia.
REFERENCE   4  (bases 1 to 3759)
  AUTHORS   Zhang C, Zhang P, Yan Y, Zhou B, Wang Y, Tian X, Hao S, Ma P, Zheng
            L, Zhang Q, Hui L, Wang Y, Cao Z and Ma X.
  TITLE     The spectrum of phenylalanine hydroxylase variants and
            genotype-phenotype correlation in phenylketonuria patients in Gansu,
            China
  JOURNAL   Hum Genomics 17 (1), 36 (2023)
   PUBMED   37098607
  REMARK    GeneRIF: The spectrum of phenylalanine hydroxylase variants and
            genotype-phenotype correlation in phenylketonuria patients in Gansu,
            China. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3759)
  AUTHORS   Regier,D.S. and Greene,C.L.
  TITLE     Phenylalanine Hydroxylase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301677
REFERENCE   6  (bases 1 to 3759)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 3759)
  AUTHORS   John SW, Scriver CR, Laframboise R and Rozen R.
  TITLE     In vitro and in vivo correlations for I65T and M1V mutations at the
            phenylalanine hydroxylase locus
  JOURNAL   Hum Mutat 1 (2), 147-153 (1992)
   PUBMED   1301201
REFERENCE   8  (bases 1 to 3759)
  AUTHORS   Svensson E, Eisensmith RC, Dworniczak B, von Dobeln U, Hagenfeldt L,
            Horst J and Woo SL.
  TITLE     Two missense mutations causing mild hyperphenylalaninemia associated
            with DNA haplotype 12
  JOURNAL   Hum Mutat 1 (2), 129-137 (1992)
   PUBMED   1301200
REFERENCE   9  (bases 1 to 3759)
  AUTHORS   John SW, Rozen R, Laframboise R, Laberge C and Scriver CR.
  TITLE     Five mutations at the PAH locus account for almost 90% of PKU
            mutations in French-Canadians from eastern Quebec
  JOURNAL   Hum Mutat 1 (1), 72-74 (1992)
   PUBMED   1301193
REFERENCE   10  (bases 1 to 3759)
  AUTHORS   Eisensmith RC and Woo SL.
  TITLE     Molecular basis of phenylketonuria and related
            hyperphenylalaninemias: mutations and polymorphisms in the human
            phenylalanine hydroxylase gene
  JOURNAL   Hum Mutat 1 (1), 13-23 (1992)
   PUBMED   1301187
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U49897.1, L47726.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968540
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000553106.6/ ENSP00000448059.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U49897.1, BC026251.1,
            AC069227.24 and BQ268294.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000277.2.
            Summary: This gene encodes a member of the biopterin-dependent
            aromatic amino acid hydroxylase protein family. The encoded
            phenylalanine hydroxylase enzyme hydroxylates phenylalanine to
            tyrosine and is the rate-limiting step in phenylalanine catabolism.
            Deficiency of this enzyme activity results in the autosomal
            recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017].
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3759
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.2"
     gene            1..3759
                     /gene="PAH"
                     /gene_synonym="PH; PKU; PKU1"
                     /note="phenylalanine hydroxylase"
                     /db_xref="GeneID:5053"
                     /db_xref="HGNC:HGNC:8582"
                     /db_xref="MIM:612349"
     misc_feature    28..30
                     /gene="PAH"
                     /gene_synonym="PH; PKU; PKU1"
                     /note="upstream in-frame stop codon"
     CDS             115..1473
                     /gene="PAH"
                     /gene_synonym="PH; PKU; PKU1"
                     /EC_number="1.14.16.1"
                     /note="phenylalanine 4-monooxygenase; phe-4-monooxygenase"
                     /codon_start=1
                     /product="phenylalanine-4-hydroxylase"
                     /protein_id="NP_000268.1"
                     /db_xref="CCDS:CCDS9092.1"
                     /db_xref="GeneID:5053"
                     /db_xref="HGNC:HGNC:8582"
                     /db_xref="MIM:612349"
                     /translation="MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEV
                     GALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGA
                     TVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFAD
                     IAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHED
                     NIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEP
                     DICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSI
                     KAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKV
                     RNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK"
     misc_feature    160..162
                     /gene="PAH"
                     /gene_synonym="PH; PKU; PKU1"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:12185072,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P00439.1); phosphorylation site"
     regulatory      2303..2308
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAH"
                     /gene_synonym="PH; PKU; PKU1"
                     /note="hexamer: AATAAA"
     polyA_site      2327
                     /gene="PAH"
                     /gene_synonym="PH; PKU; PKU1"
                     /note="major polyA site"
     regulatory      3613..3618
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAH"
                     /gene_synonym="PH; PKU; PKU1"
                     /note="hexamer: AATACA"
     polyA_site      3631
                     /gene="PAH"
                     /gene_synonym="PH; PKU; PKU1"
     regulatory      3734..3739
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAH"
                     /gene_synonym="PH; PKU; PKU1"
                     /note="hexamer: AATAAA"
     polyA_site      3759
                     /gene="PAH"
                     /gene_synonym="PH; PKU; PKU1"
ORIGIN
        1 actctcttct cctccctagt gcgaggttaa aaccttcagc cccacgtgct gtttgcaaac
       61 ctgcctgtac ctgaggccct aaaaagccag agacctcact cccggggagc cagcatgtcc
      121 actgcggtcc tggaaaaccc aggcttgggc aggaaactct ctgactttgg acaggaaaca
      181 agctatattg aagacaactg caatcaaaat ggtgccatat cactgatctt ctcactcaaa
      241 gaagaagttg gtgcattggc caaagtattg cgcttatttg aggagaatga tgtaaacctg
      301 acccacattg aatctagacc ttctcgttta aagaaagatg agtatgaatt tttcacccat
      361 ttggataaac gtagcctgcc tgctctgaca aacatcatca agatcttgag gcatgacatt
      421 ggtgccactg tccatgagct ttcacgagat aagaagaaag acacagtgcc ctggttccca
      481 agaaccattc aagagctgga cagatttgcc aatcagattc tcagctatgg agcggaactg
      541 gatgctgacc accctggttt taaagatcct gtgtaccgtg caagacggaa gcagtttgct
      601 gacattgcct acaactaccg ccatgggcag cccatccctc gagtggaata catggaggaa
      661 gaaaagaaaa catggggcac agtgttcaag actctgaagt ccttgtataa aacccatgct
      721 tgctatgagt acaatcacat ttttccactt cttgaaaagt actgtggctt ccatgaagat
      781 aacattcccc agctggaaga cgtttctcag ttcctgcaga cttgcactgg tttccgcctc
      841 cgacctgtgg ctggcctgct ttcctctcgg gatttcttgg gtggcctggc cttccgagtc
      901 ttccactgca cacagtacat cagacatgga tccaagccca tgtatacccc cgaacctgac
      961 atctgccatg agctgttggg acatgtgccc ttgttttcag atcgcagctt tgcccagttt
     1021 tcccaggaaa ttggccttgc ctctctgggt gcacctgatg aatacattga aaagctcgcc
     1081 acaatttact ggtttactgt ggagtttggg ctctgcaaac aaggagactc cataaaggca
     1141 tatggtgctg ggctcctgtc atcctttggt gaattacagt actgcttatc agagaagcca
     1201 aagcttctcc ccctggagct ggagaagaca gccatccaaa attacactgt cacggagttc
     1261 cagcccctct attacgtggc agagagtttt aatgatgcca aggagaaagt aaggaacttt
     1321 gctgccacaa tacctcggcc cttctcagtt cgctacgacc catacaccca aaggattgag
     1381 gtcttggaca atacccagca gcttaagatt ttggctgatt ccattaacag tgaaattgga
     1441 atcctttgca gtgccctcca gaaaataaag taaagccatg gacagaatgt ggtctgtcag
     1501 ctgtgaatct gttgatggag atccaactat ttctttcatc agaaaaagtc cgaaaagcaa
     1561 accttaattt gaaataacag ccttaaatcc tttacaagat ggagaaacaa caaataagtc
     1621 aaaataatct gaaatgacag gatatgagta catactcaag agcataatgg taaatctttt
     1681 ggggtcatct ttgatttaga gatgataatc ccatactctc aattgagtta aatcagtaat
     1741 ctgtcgcatt tcatcaagat taattaaaat ttgggacctg cttcattcaa gcttcatata
     1801 tgctttgcag agaactcata aaggagcata taaggctaaa tgtaaaacac aagactgtca
     1861 ttagaattga attattgggc ttaatataaa tcgtaaccta tgaagtttat tttctatttt
     1921 agttaactat gattccaatt actactttgt tattgtacct aagtaaattt tctttaagtc
     1981 agaagcccat taaaatagtt acaagcattg aacttcttta gtattatatt aatataaaaa
     2041 catttttgta tgttttattg taatcataaa tactgctgta taaggtaata aaactctgca
     2101 cctaatcccc ataacttcca gtatcatttt ccaattaatt atcaagtctg ttttgggaaa
     2161 cactttgagg acatttatga tgcagcagat gttgactaaa ggcttggttg gtagatattc
     2221 aggaaatgtt cactgaataa ataagtaaat acattattga aaagcaaatc tgtataaatg
     2281 tgaaattttt atttgtatta gtaataaaac attagtagtt taaacaattt cactgtttca
     2341 gttatttcct ggaatgaaat attcctctca ctgccttaga aatacattag ctagatagtt
     2401 ttgtaacatg agaaaatggc cagaggctca tatctccaac cctttgcagg ggctccttgt
     2461 gacactcaaa gtcatgcctg gacagtcaac ggactttgac ttttgttgat tgtgtgtttg
     2521 ccatgaaaac atgaatatct gagaagcagt ggggagaaaa aaaacaatat ctttgtagct
     2581 atgatttgaa attctcatac tactttacat tttattttgg aaatagttaa gtcttaaaga
     2641 atttgcatag tgtttctttg agtttagttc tcagaacagc tgtagtatca tcaacagcaa
     2701 attctgggta ccttcccagc tccacccaat ttgaatctct gaagataagg cccagagacc
     2761 tgtattttta agtaccccat ttttttaatt attcatagcc aaattctatc aggtacattc
     2821 agtttgagaa aacctgattt gtggtggtca gtctgccact gccaatgatg tcaatgtgga
     2881 taagctgttt cccttcttta gacctcagtg tcactctaac aatgagggag ttaaacttta
     2941 taaaccaagg tccattgcag ccttgaaata tgattcaagt gttcatatgt gtctttatat
     3001 agctatgcct gatccactga tggggtgtta caatacctgc ttatatatgc cagctgggag
     3061 gaaagaggaa tttactgaat gtgtctgaag tttcattgtt ttgaagttgg aattttatgc
     3121 ctgtatctat gtttatgcct ttgtaaaacc cactgatttt aaaagtgaaa aaggactttt
     3181 ttctctgctt ttactctaaa caccaaacaa tccctgcaaa gggattattc tgatgtttct
     3241 tcatttcaca tgaaaagtta attattgact ctggaactta aatattagat aatatttttg
     3301 acaatattga agagtgagtt ttagtccagt aaagatgttt taatgagctt gaaggtaaag
     3361 tttcggttaa gttatgattt tcacaggaag ttacatactg aatgaaagat aatatttgta
     3421 tttttggtaa tgtgctactc agttcttagc tcttttttat ccagatataa aagcccagtc
     3481 tatagctatg ggatttaata aatttccaat atgtaagtgt ttttatttgt ttaatttcta
     3541 gtaaatgagc aatattttag aaacagtatc agtctttact gacagatgat cttgctgagt
     3601 acaatcaaaa taaatacata aaaaattcta agcatgtggc attgatgttt aataagtttc
     3661 tgaaagtagg aatctgaatt ttaactgtag gtttctaagt tatataattt agttgtgttt
     3721 caaaaaatcc accaataaaa tgtcagcttt ataaaaaca
//
LOCUS       NM_000278               4189 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens paired box 2 (PAX2), transcript variant b, mRNA.
ACCESSION   NM_000278
VERSION     NM_000278.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4189)
  AUTHORS   Muntean C, Chirtes C, Baczoni B and Banescu C.
  TITLE     PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review
  JOURNAL   Int J Mol Sci 24 (16), 12737 (2023)
   PUBMED   37628926
  REMARK    GeneRIF: PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative
            Review. Review article Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4189)
  AUTHORS   Negrisolo S and Benetti E.
  TITLE     PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review
            of Mutations from the Leiden Open Variation Database
  JOURNAL   Int J Mol Sci 24 (4), 4165 (2023)
   PUBMED   36835576
  REMARK    GeneRIF: PAX2 and CAKUT Phenotypes: Report on Two New Variants and a
            Review of Mutations from the Leiden Open Variation Database.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4189)
  AUTHORS   Giovanella S, Pasini A, Ligabue G, Testa F, Mori G, Tagliafico E and
            Magistroni R.
  TITLE     PAX2/Renal Coloboma Syndrome Expresses Extreme Intrafamilial
            Phenotypic Variability
  JOURNAL   Nephron 147 (2), 120-126 (2023)
   PUBMED   35790137
  REMARK    GeneRIF: PAX2/Renal Coloboma Syndrome Expresses Extreme
            Intrafamilial Phenotypic Variability.
REFERENCE   4  (bases 1 to 4189)
  AUTHORS   Tavassoli K, Ruger W and Horst J.
  TITLE     Alternative splicing in PAX2 generates a new reading frame and an
            extended conserved coding region at the carboxy terminus
  JOURNAL   Hum Genet 101 (3), 371-375 (1997)
   PUBMED   9439670
REFERENCE   5  (bases 1 to 4189)
  AUTHORS   Sanyanusin P, Norrish JH, Ward TA, Nebel A, McNoe LA and Eccles MR.
  TITLE     Genomic structure of the human PAX2 gene
  JOURNAL   Genomics 35 (1), 258-261 (1996)
   PUBMED   8661132
REFERENCE   6  (bases 1 to 4189)
  AUTHORS   Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME,
            Sullivan MJ, Dobyns WB and Eccles MR.
  TITLE     Mutation of the PAX2 gene in a family with optic nerve colobomas,
            renal anomalies and vesicoureteral reflux
  JOURNAL   Nat Genet 9 (4), 358-364 (1995)
   PUBMED   7795640
  REMARK    Erratum:[Nat Genet. 1996 May;13(1):129. PMID: 8673093]
REFERENCE   7  (bases 1 to 4189)
  AUTHORS   Ward TA, Nebel A, Reeve AE and Eccles MR.
  TITLE     Alternative messenger RNA forms and open reading frames within an
            additional conserved region of the human PAX-2 gene
  JOURNAL   Cell Growth Differ 5 (9), 1015-1021 (1994)
   PUBMED   7819127
REFERENCE   8  (bases 1 to 4189)
  AUTHORS   Bower,M.A., Schimmenti,L.A. and Eccles,M.R.
  TITLE     PAX2-Related Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301624
REFERENCE   9  (bases 1 to 4189)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301552
REFERENCE   10  (bases 1 to 4189)
  AUTHORS   Eccles MR, Wallis LJ, Fidler AE, Spurr NK, Goodfellow PJ and Reeve
            AE.
  TITLE     Expression of the PAX2 gene in human fetal kidney and Wilms' tumor
  JOURNAL   Cell Growth Differ 3 (5), 279-289 (1992)
   PUBMED   1378753
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M89470.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000355243.8/ ENSP00000347385.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL589862.28, M89470.1 and
            AL138762.20.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000278.4.
            Summary: PAX2 encodes paired box gene 2, one of many human
            homologues of the Drosophila melanogaster gene prd. The central
            feature of this transcription factor gene family is the conserved
            DNA-binding paired box domain. PAX2 is believed to be a target of
            transcriptional supression by the tumor suppressor gene WT1.
            Mutations within PAX2 have been shown to result in optic nerve
            colobomas and renal hypoplasia. Alternative splicing of this gene
            results in multiple transcript variants. [provided by RefSeq, Dec
            2014].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            CCDS Note: The coding region has been updated to add an additional
            glycine residue in the protein C-terminal region, supported by the
            available transcript and conservation data.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4189
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     gene            1..4189
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /note="paired box 2"
                     /db_xref="GeneID:5076"
                     /db_xref="HGNC:HGNC:8616"
                     /db_xref="MIM:167409"
     misc_feature    302..304
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /note="upstream in-frame stop codon"
     CDS             680..1864
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /note="isoform b is encoded by transcript variant b; paired
                     box homeotic gene 2; paired box protein Pax-2"
                     /codon_start=1
                     /product="paired box protein Pax-2 isoform b"
                     /protein_id="NP_000269.3"
                     /db_xref="CCDS:CCDS41561.1"
                     /db_xref="GeneID:5076"
                     /db_xref="HGNC:HGNC:8616"
                     /db_xref="MIM:167409"
                     /translation="MDMHCKADPFSAMHPGHGGVNQLGGVFVNGRPLPDVVRQRIVELA
                     HQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKVATPKVVDKIAEYKR
                     QNPTMFAWEIRDRLLAEGICDNDTVPSVSSINRIIRTKVQQPFHPTPDGAGTGVTAPGH
                     TIVPSTASPPVSSASNDPVGSYSINGILGIPRSNGEKRKRDEDVSEGSVPNGDSQSGVD
                     SLRKHLRADTFTQQQLEALDRVFERPSYPDVFQASEHIKSEQGNEYSLPALTPGLDEVK
                     SSLSASTNPELGSNVSGTQTYPVVTGRDMASTTLPGYPPHVPPTGQGSYPTSTLAGMVP
                     GSEFSGNPYSHPQYTAYNEAWRFSNPALLSSPYYYSAAPRGSAPAAAAAAYDRH"
     regulatory      3812..3817
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /note="hexamer: AATAAA"
     polyA_site      3839
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /note="major polyA site"
     regulatory      4168..4173
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /note="hexamer: AATAAA"
     polyA_site      4189
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
ORIGIN
        1 agtctccggc cgagtcttct cgcagccgca acccacctgg ggccagccca gagctgccag
       61 cgccgctcgg ctccctccct ccctcccggc ccttcggccg cggcggcgtg cgcctgcctt
      121 ttccgggggc gggggcctgg cccgcgcgct cccctcccgc aggcgccacc tcggacatcc
      181 ccgggattgc tacttctctg ccaacttcgc caactcgcca gcacttggag aggcccggct
      241 cccctcccgg cgccctctga ccgcccccgc cccgcgcgct ctccgaccac cgcctctcgg
      301 atgaccaggt tccaggggag ctgagcgagt cgcctccccc gcccagcttc agccctggct
      361 gcagctgcag cgcgagccat gcgcccccag tgcaccccgg cccggcccac cgccccgggg
      421 ccattctgct gaccgcccag ccccgagccc cgacagtggc aagttgcggc tactgcagtt
      481 gcaagctccg gccaacccgg aggagcccca gcggggagcg cagtgctgcg ccccccgccc
      541 ccgcgcgccc cgcagcagcc gggcgttcac tcatcctccc tcccccaccg tccctccctt
      601 ttctcctcaa gtcctgaagt tgagtttgag aggcgacacg gcggcggcgg ccgcgctgct
      661 cccgctcctc tgcctcccca tggatatgca ctgcaaagca gaccccttct ccgcgatgca
      721 cccagggcac gggggtgtga accagctcgg gggggtgttt gtgaacggcc ggcccctacc
      781 cgacgtggtg aggcagcgca tcgtggagct ggcccaccag ggtgtgcggc cctgtgacat
      841 ctcccggcag ctgcgggtca gccacggctg tgtcagcaaa atcctgggca ggtactacga
      901 gaccggcagc atcaagccgg gtgtgatcgg tggctccaag cccaaagtgg cgacgcccaa
      961 agtggtggac aagattgctg aatacaaacg acagaacccg actatgttcg cctgggagat
     1021 tcgagaccgg ctcctggccg agggcatctg tgacaatgac acagtgccca gcgtctcttc
     1081 catcaacaga atcatccgga ccaaagttca gcagcctttc cacccaacgc cggatggggc
     1141 tgggacagga gtgaccgccc ctggccacac cattgttccc agcacggcct cccctcctgt
     1201 ttccagcgcc tccaatgacc cagtgggatc ctactccatc aatgggatcc tggggattcc
     1261 tcgctccaat ggtgagaaga ggaaacgtga tgaagatgtg tctgagggct cagtccccaa
     1321 tggagattcc cagagtggtg tggacagttt gcggaagcac ttgcgagctg acaccttcac
     1381 ccagcagcag ctggaagctt tggatcgggt ctttgagcgt ccttcctacc ctgacgtctt
     1441 ccaggcatca gagcacatca aatcagaaca ggggaacgag tactccctcc cagccctgac
     1501 ccctgggctt gatgaagtca agtcgagtct atctgcatcc accaaccctg agctgggcag
     1561 caacgtgtca ggcacacaga catacccagt tgtgactggt cgtgacatgg cgagcaccac
     1621 tctgcctggt tacccccctc acgtgccccc cactggccag ggaagctacc ccacctccac
     1681 cctggcagga atggtgcctg ggagcgagtt ctccggcaac ccgtacagcc acccccagta
     1741 cacggcctac aacgaggctt ggagattcag caaccccgcc ttactaagtt ccccttatta
     1801 ttatagtgcc gccccccggg gctccgcccc tgccgctgct gccgctgcct atgaccgcca
     1861 ctagttaccg cggggaccac atcaagcttc aggccgacag cttcggcctc cacatcgtcc
     1921 ccgtctgacc ccaccccgga gggagggagg accgacgcga cgcgatgcct cccggccacc
     1981 gccccagcct caccccatcc cacgaccccc gcaacccttc acatcacccc cctcgaaggt
     2041 cggacaggac gggtggagcc gtgggcggga ccctcaggcc cgggcccgcc gcccccagcc
     2101 ccgcctgccg cccctccccg cctgcctgga ctgcgcggcg ccgtgagggg gattcggccc
     2161 agctcgtccc ggcctccacc aagccagccc cgaagcccgc cagccaccct gccggactcg
     2221 ggcgcgacct gctggcgcgc gccggatgtt tctgtgacac acaatcagcg cggaccgcag
     2281 cgcggcccag ccccgggcac ccgcctcgga cgctcgggcg ccaggaggct tcgctggagg
     2341 ggctgggcca aggagattaa gaagaaaacg actttctgca ggaggaagag cccgctgccg
     2401 aatccctggg aaaaattctt ttcccccagt gccagccgga ctgccctcgc cttccgggtg
     2461 tgccctgtcc cagaagatgg aatgggggtg tgggggtccg gctctaggaa cgggctttgg
     2521 gggcgtcagg tctttccaag gttgggaccc aaggatcggg gggcccagca gcccgcaccg
     2581 atcgagccgg actctcggct cttcactgct cctcctggcc tgcctagttc cccagggccc
     2641 ggcacctcct gctgcgagac ccggctctca gccctgcctt gcccctacct cagcgtctct
     2701 tccacctgct ggcctcccag tttcccctcc tgccagtcct tcgcctgtcc cttgacgccc
     2761 tgcatcctcc tccctgactc gcagccccat cggacgctct cccgggaccg ccgcaggacc
     2821 agtttccata gactgcggac tggggtcttc ctccagcagt tacttgatgc cccctccccc
     2881 gacacagact ctcaatctgc cggtggtaag aaccggttct gagctggcgt ctgagctgct
     2941 gcggggtgga agtggggggc tgcccactcc actcctccca tcccctccca gcctcctcct
     3001 ccggcaggaa ctgaacagaa ccacaaaaag tctacattta tttaatatga tggtctttgc
     3061 aaaaaggaac aaaacaacac aaaagcccac caggctgctg ctttgtggaa agacggtgtg
     3121 tgtcgtgtga aggcgaaacc cggtgtacat aacccctccc cctccgcccc gccccgcccg
     3181 gccccgtaga gtccctgtcg cccgccggcc ctgcctgtag atacgccccg ctgtctgtgc
     3241 tgtgagagtc gccgctcgct gggggggaag ggggggacac agctacacgc ccattaaagc
     3301 acagcacgtc ctgggggagg ggggcatttt ttatgttaca aaaaaaaatt acgaaagaaa
     3361 agaaatctct atgcaaaatg acgaacatgg tcctgtggac tcctctggcc tgttttgttg
     3421 gctctttctc tgtaattccg tgttttcgct ttttcctccc tgcccctctc tccctctgcc
     3481 cctctctcct ctccgcttct ctccccctct gtctctgtct ctctccgtct ctgtcgctct
     3541 tgtctgtctg tctctgctct ttcctcggcc tctctcccca gacctggccc ggccgccctg
     3601 tctccgcagg ctagatccga ggtggcagct ccagcccccg ggctcgcccc ctcgcgggcg
     3661 tgccccgcgc gccccgggcg gccgaaggcc gggccgcccc gtcccgcccc gtagttgctc
     3721 tttcggtagt ggcgatgcgc cctgcatgtc tcctcacccg tggatcgtga cgactcgaaa
     3781 taacagaaac aaagtcaata aagtgaaaat aaataaaaat ccttgaacaa atccgaaaag
     3841 gcttggagtc ctcgcccaga tctctctccc ctgcgagccc tttttatttg agaaggaaaa
     3901 agagaaaaga gaatcgttta agggaacccg gcgcccagcc aggctccagt ggcccgaacg
     3961 gggcggcgag ggcggcgagg gcgccgaggt ccggcccatc ccagtcctgt ggggctggcc
     4021 gggcagagac cccggaccca ggcccaggcc taacctgcta aatgtccccg gacggttctg
     4081 gtctcctcgg ccactttcag tgcgtcggtt cgttttgatt ctttttcttt tgtgcacata
     4141 agaaataaat aataataata aataaagaat aaaattttgt atgtcactc
//
LOCUS       NM_000281                787 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1),
            transcript variant 1, mRNA.
ACCESSION   NM_000281
VERSION     NM_000281.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 787)
  AUTHORS   Goos H, Kinnunen M, Salokas K, Tan Z, Liu X, Yadav L, Zhang Q, Wei
            GH and Varjosalo M.
  TITLE     Human transcription factor protein interaction networks
  JOURNAL   Nat Commun 13 (1), 766 (2022)
   PUBMED   35140242
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 787)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 787)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 787)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (bases 1 to 787)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam S,
            MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 787)
  AUTHORS   Sourdive DJ, Transy C, Garbay S and Yaniv M.
  TITLE     The bifunctional DCOH protein binds to HNF1 independently of its
            4-alpha-carbinolamine dehydratase activity
  JOURNAL   Nucleic Acids Res 25 (8), 1476-1484 (1997)
   PUBMED   9092652
  REMARK    GeneRIF: Pcbd1 is a moonlighting protein that has dehydratase
            activity in addition to functioning as a cofactor which regulates
            HNF1alpha.
REFERENCE   7  (bases 1 to 787)
  AUTHORS   Thony B, Neuheiser F, Blau N and Heizmann CW.
  TITLE     Characterization of the human PCBD gene encoding the bifunctional
            protein pterin-4 alpha-carbinolamine dehydratase/dimerization
            cofactor for the transcription factor HNF-1 alpha
  JOURNAL   Biochem Biophys Res Commun 210 (3), 966-973 (1995)
   PUBMED   7763270
REFERENCE   8  (bases 1 to 787)
  AUTHORS   Thony B, Heizmann CW and Mattei MG.
  TITLE     Chromosomal location of two human genes encoding
            tetrahydrobiopterin-metabolizing enzymes:
            6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and
            pterin-4 alpha-carbinolamine dehydratase maps to 10q22
  JOURNAL   Genomics 19 (2), 365-368 (1994)
   PUBMED   8188266
REFERENCE   9  (bases 1 to 787)
  AUTHORS   Citron BA, Kaufman S, Milstien S, Naylor EW, Greene CL and Davis MD.
  TITLE     Mutation in the 4a-carbinolamine dehydratase gene leads to mild
            hyperphenylalaninemia with defective cofactor metabolism
  JOURNAL   Am J Hum Genet 53 (3), 768-774 (1993)
   PUBMED   8352282
REFERENCE   10  (bases 1 to 787)
  AUTHORS   Mendel DB, Khavari PA, Conley PB, Graves MK, Hansen LP, Admon A and
            Crabtree GR.
  TITLE     Characterization of a cofactor that regulates dimerization of a
            mammalian homeodomain protein
  JOURNAL   Science 254 (5039), 1762-1767 (1991)
   PUBMED   1763325
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF082858.1, SRR5189661.168037.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000299299.4/ ENSP00000299299.3
            multifunctional gene product(s) :: PMID: 9092652
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ685076.1 and BC006324.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000281.3.
            Summary: This gene encodes a member of the
            pterin-4-alpha-carbinolamine dehydratase family. The encoded
            protein has been identified as a moonlighting protein based on its
            ability to perform mechanistically distinct functions. The encoded
            protein functions as both a dehydratase involved in
            tetrahydrobiopterin biosynthesis, and as a cofactor for
            HNF1A-dependent transcription. A deficiency of this enzyme leads to
            hyperphenylalaninemia. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jan 2014].
            Transcript Variant: This variant (1) encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..787
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..787
                     /gene="PCBD1"
                     /gene_synonym="DCOH; PCBD; PCD; PHS"
                     /note="pterin-4 alpha-carbinolamine dehydratase 1"
                     /db_xref="GeneID:5092"
                     /db_xref="HGNC:HGNC:8646"
                     /db_xref="MIM:126090"
     CDS             33..347
                     /gene="PCBD1"
                     /gene_synonym="DCOH; PCBD; PCD; PHS"
                     /EC_number="4.2.1.96"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dimerizing cofactor for HNF1; 6-pyruvoyl-tetrahydropterin
                     synthase/dimerization cofactor of hepatocyte nuclear factor
                     1 alpha (TCF1); phenylalanine hydroxylase-stimulating
                     protein; 4-alpha-hydroxy-tetrahydropterin dehydratase;
                     pterin-4 alpha-carbinolamine dehydratase/dimerization
                     cofactor of hepatocyte nuclear factor 1 alpha"
                     /codon_start=1
                     /product="pterin-4-alpha-carbinolamine dehydratase isoform
                     1"
                     /protein_id="NP_000272.1"
                     /db_xref="CCDS:CCDS31217.1"
                     /db_xref="GeneID:5092"
                     /db_xref="HGNC:HGNC:8646"
                     /db_xref="MIM:126090"
                     /translation="MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNR
                     AFGFMTRVALQAEKLDHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVAVSMT
                     "
     misc_feature    36..38
                     /gene="PCBD1"
                     /gene_synonym="DCOH; PCBD; PCD; PHS"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000269|PubMed:8444860; propagated from
                     UniProtKB/Swiss-Prot (P61457.2); acetylation site"
     regulatory      765..770
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCBD1"
                     /gene_synonym="DCOH; PCBD; PCD; PHS"
                     /note="hexamer: AATAAA"
     polyA_site      787
                     /gene="PCBD1"
                     /gene_synonym="DCOH; PCBD; PCD; PHS"
                     /note="major polyA site"
ORIGIN
        1 ctctccgctg gccacctgct gccgcccgcg ccatggctgg caaagcacac aggctgagcg
       61 ctgaggagag ggaccagctg ctgccaaacc tgagggctgt ggggtggaat gagctggaag
      121 gccgtgatgc catcttcaag cagtttcatt tcaaagactt caacagggcc tttgggttca
      181 tgacaagagt ggccctgcag gctgagaaac tggaccacca tcctgaatgg tttaacgtgt
      241 acaacaaggt ccacatcacg ctgagcaccc atgagtgtgc cggcctttca gaacgggaca
      301 taaacctggc cagcttcatc gaacaagtag cagtgtccat gacatagacc ctgcccttcc
      361 tctttgaatt cttccggggg aaggggtgac tgaactggga gtccagggag ggagctgagg
      421 agcccttacc ctcccaccac tcccctccca agacccagcc gccgccgttg agggctgagt
      481 ccttgctgtg ggatgtgcca gtgtccccac caacaccagg aatttagacc ttttccctgc
      541 accactctct tcatcctggg ggctctgtta cactaatttg aataaactct cccctttctt
      601 tgcaacttcc cagcaacaat aatgattttc ttgccaggcc gtctcttgct ccctaattca
      661 tttcccagga agctgtgata cagggtgaaa taaagtcttg tcttagaaac caggacccta
      721 aaccccacac tatgtaatag aaacacatgt gtttttatgt ctcaaataaa actattatat
      781 cacttgg
//
LOCUS       NM_000282               2484 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens propionyl-CoA carboxylase subunit alpha (PCCA),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000282
VERSION     NM_000282.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2484)
  AUTHORS   Armstrong AJ, Collado MS, Henke BR, Olson MW, Hoang SA, Hamilton CA,
            Pourtaheri TD, Chapman KA, Summar MM, Johns BA, Wamhoff BR, Reardon
            JE and Figler RA.
  TITLE     A novel small molecule approach for the treatment of propionic and
            methylmalonic acidemias
  JOURNAL   Mol Genet Metab 133 (1), 71-82 (2021)
   PUBMED   33741272
  REMARK    GeneRIF: A novel small molecule approach for the treatment of
            propionic and methylmalonic acidemias.
REFERENCE   2  (bases 1 to 2484)
  AUTHORS   Bychkov I, Galushkin A, Filatova A, Nekrasov A, Kurkina M, Baydakova
            G, Ilyushkina A, Skoblov M and Zakharova E.
  TITLE     Functional Analysis of the PCCA and PCCB Gene Variants Predicted to
            Affect Splicing
  JOURNAL   Int J Mol Sci 22 (8), 4154 (2021)
   PUBMED   33923806
  REMARK    GeneRIF: Functional Analysis of the PCCA and PCCB Gene Variants
            Predicted to Affect Splicing. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2484)
  AUTHORS   Du Z, Zhang X, Gao W and Yang J.
  TITLE     Differentially expressed genes PCCA, ECHS1, and HADH are potential
            prognostic biomarkers for gastric cancer
  JOURNAL   Sci Prog 104 (2), 368504211011344 (2021)
   PUBMED   33881965
  REMARK    GeneRIF: Differentially expressed genes PCCA, ECHS1, and HADH are
            potential prognostic biomarkers for gastric cancer.
REFERENCE   4  (bases 1 to 2484)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2484)
  AUTHORS   Rivera-Barahona A, Navarrete R, Garcia-Rodriguez R, Richard E,
            Ugarte M, Perez-Cerda C, Perez B, Gamez A and Desviat LR.
  TITLE     Identification of 34 novel mutations in propionic acidemia:
            Functional characterization of missense variants and phenotype
            associations
  JOURNAL   Mol Genet Metab 125 (3), 266-275 (2018)
   PUBMED   30274917
  REMARK    GeneRIF: his work represents a large-scale update on pathogenic
            mutations in the PCCA and PCCB genes causing Propionic acidemia
            (PA), and confirms previous reports indicating a major causative
            role of mutation-induced protein destabilization
REFERENCE   6  (bases 1 to 2484)
  AUTHORS   Shchelochkov,O.A., Carrillo,N. and Venditti,C.
  TITLE     Propionic Acidemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   22593918
REFERENCE   7  (bases 1 to 2484)
  AUTHORS   Kennerknecht I, Klett C and Hameister H.
  TITLE     Assignment of the human gene propionyl coenzyme A carboxylase,
            alpha-chain, (PCCA) to chromosome 13q32 by in situ hybridization
  JOURNAL   Genomics 14 (2), 550-551 (1992)
   PUBMED   1427880
REFERENCE   8  (bases 1 to 2484)
  AUTHORS   Lamhonwah AM, Mahuran D and Gravel RA.
  TITLE     Human mitochondrial propionyl-CoA carboxylase: localization of the
            N-terminus of the pro- and mature alpha chains in the deduced
            primary sequence of a full-length cDNA
  JOURNAL   Nucleic Acids Res 17 (11), 4396 (1989)
   PUBMED   2740237
REFERENCE   9  (bases 1 to 2484)
  AUTHORS   Lamhonwah,A.M., Quan,F. and Gravel,R.A.
  TITLE     Sequence homology around the biotin-binding site of human
            propionyl-CoA carboxylase and pyruvate carboxylase
  JOURNAL   Arch Biochem Biophys 254 (2), 631-636 (1987)
   PUBMED   3555348
REFERENCE   10  (bases 1 to 2484)
  AUTHORS   Lamhonwah,A.M., Barankiewicz,T.J., Willard,H.F., Mahuran,D.J.,
            Quan,F. and Gravel,R.A.
  TITLE     Isolation of cDNA clones coding for the alpha and beta chains of
            human propionyl-CoA carboxylase: chromosomal assignments and DNA
            polymorphisms associated with PCCA and PCCB genes
  JOURNAL   Proc Natl Acad Sci U S A 83 (13), 4864-4868 (1986)
   PUBMED   3460076
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.106251.1, AF385926.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000376285.6/ ENSP00000365462.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF385926.1 and BC000140.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000282.3.
            Summary: The protein encoded by this gene is the alpha subunit of
            the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase.
            PCCA encodes the biotin-binding region of this enzyme. Mutations in
            either PCCA or PCCB (encoding the beta subunit) lead to an enzyme
            deficiency resulting in propionic acidemia. Multiple transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, May 2010].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2484
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.3"
     gene            1..2484
                     /gene="PCCA"
                     /note="propionyl-CoA carboxylase subunit alpha"
                     /db_xref="GeneID:5095"
                     /db_xref="HGNC:HGNC:8653"
                     /db_xref="MIM:232000"
     CDS             29..2215
                     /gene="PCCA"
                     /EC_number="6.4.1.3"
                     /note="isoform a precursor is encoded by transcript variant
                     1; propionyl Coenzyme A carboxylase, alpha polypeptide;
                     propionyl-CoA carboxylase alpha chain, mitochondrial;
                     PCCase alpha subunit; propanoyl-CoA:carbon dioxide ligase
                     alpha subunit; pccA complementation group; propionyl-CoA
                     carboxylase alpha subunit; propionyl CoA carboxylase, alpha
                     polypeptide"
                     /codon_start=1
                     /product="propionyl-CoA carboxylase alpha chain,
                     mitochondrial isoform a precursor"
                     /protein_id="NP_000273.2"
                     /db_xref="CCDS:CCDS9496.2"
                     /db_xref="GeneID:5095"
                     /db_xref="HGNC:HGNC:8653"
                     /db_xref="MIM:232000"
                     /translation="MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCL
                     MVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVK
                     MADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVF
                     IGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASA
                     GGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGN
                     ALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVD
                     SKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECR
                     VYAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSD
                     RTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHML
                     TKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASN
                     NGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVYK
                     VNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAVAEGQEICVIEAMK
                     MQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE"
     transit_peptide 29..184
                     /gene="PCCA"
                     /note="Mitochondrion.
                     /evidence=ECO:0000269|PubMed:16023992; propagated from
                     UniProtKB/Swiss-Prot (P05165.4)"
     transit_peptide 29..163
                     /gene="PCCA"
     mat_peptide     164..2212
                     /gene="PCCA"
                     /product="propionyl-CoA carboxylase alpha chain,
                     mitochondrial isoform a"
     mat_peptide     185..2212
                     /gene="PCCA"
                     /product="Propionyl-CoA carboxylase alpha chain,
                     mitochondrial. /id=PRO_0000002837"
                     /note="propagated from UniProtKB/Swiss-Prot (P05165.4)"
     misc_feature    221..223
                     /gene="PCCA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q91ZA3; propagated from
                     UniProtKB/Swiss-Prot (P05165.4); acetylation site"
     misc_feature    476..478
                     /gene="PCCA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q91ZA3; propagated from
                     UniProtKB/Swiss-Prot (P05165.4); acetylation site"
     misc_feature    626..628
                     /gene="PCCA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q91ZA3; propagated from
                     UniProtKB/Swiss-Prot (P05165.4); acetylation site"
     misc_feature    782..784
                     /gene="PCCA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q91ZA3; propagated from
                     UniProtKB/Swiss-Prot (P05165.4); phosphorylation site"
     misc_feature    1010..1012
                     /gene="PCCA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q91ZA3; propagated from
                     UniProtKB/Swiss-Prot (P05165.4); acetylation site"
     misc_feature    1514..1516
                     /gene="PCCA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q91ZA3; propagated from
                     UniProtKB/Swiss-Prot (P05165.4); acetylation site"
     regulatory      2461..2466
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCCA"
                     /note="hexamer: AATAAA"
     polyA_site      2484
                     /gene="PCCA"
                     /note="major polyA site"
ORIGIN
        1 agcagagggg cggtctgcgg ggacaacaat ggcggggttc tgggtcggga cagcaccgct
       61 ggtcgctgcc ggacggcgtg ggcggtggcc gccgcagcag ctgatgctga gcgcggcgct
      121 gcggaccctg aagcatgttc tgtactattc aagacagtgc ttaatggtgt cccgtaatct
      181 tggttcagtg ggatatgatc ctaatgaaaa aacttttgat aaaattcttg ttgctaatag
      241 aggagaaatt gcatgtcggg ttattagaac ttgcaagaag atgggcatta agacagttgc
      301 catccacagt gatgttgatg ctagttctgt tcatgtgaaa atggcggatg aggctgtctg
      361 tgttggccca gctcccacca gtaaaagcta cctcaacatg gatgccatca tggaagccat
      421 taagaaaacc agggcccaag ctgtacatcc aggttatgga ttcctttcag aaaacaaaga
      481 atttgccaga tgtttggcag cagaagatgt cgttttcatt ggacctgaca cacatgctat
      541 tcaagccatg ggcgacaaga ttgaaagcaa attattagct aagaaagcag aggttaatac
      601 aatccctggc tttgatggag tagtcaagga tgcagaagaa gctgtcagaa ttgcaaggga
      661 aattggctac cctgtcatga tcaaggcctc agcaggtggt ggtgggaaag gcatgcgcat
      721 tgcttgggat gatgaagaga ccagggatgg ttttagattg tcatctcaag aagctgcttc
      781 tagttttggc gatgatagac tactaataga aaaatttatt gataatcctc gtcatataga
      841 aatccaggtt ctaggtgata aacatgggaa tgctttatgg cttaatgaaa gagagtgctc
      901 aattcagaga agaaatcaga aggtggtgga ggaagcacca agcatttttt tggatgcgga
      961 gactcgaaga gcgatgggag aacaagctgt agctcttgcc agagcagtaa aatattcctc
     1021 tgctgggacc gtggagttcc ttgtggactc taagaagaat ttttatttct tggaaatgaa
     1081 tacaagactc caggttgagc atcctgtcac agaatgcatt actggcctgg acctagtcca
     1141 ggaaatgatc cgtgttgcta agggctaccc tctcaggcac aaacaagctg atattcgcat
     1201 caacggctgg gcagttgaat gtcgggttta tgctgaggac ccctacaagt cttttggttt
     1261 accatctatt gggagattgt ctcagtacca agaaccgtta catctacctg gtgtccgagt
     1321 ggacagtggc atccaaccag gaagtgatat tagcatttat tatgatccta tgatttcaaa
     1381 actaatcaca tatggctctg atagaactga ggcactgaag agaatggcag atgcactgga
     1441 taactatgtt attcgaggtg ttacacataa tattgcatta cttcgagagg tgataatcaa
     1501 ctcacgcttt gtaaaaggag acatcagcac taaatttctc tccgatgtgt atcctgatgg
     1561 cttcaaagga cacatgctaa ccaagagtga gaagaaccag ttattggcaa tagcatcatc
     1621 attgtttgtg gcattccagt taagagcaca acattttcaa gaaaattcaa gaatgcctgt
     1681 tattaaacca gacatagcca actgggagct ctcagtaaaa ttgcatgata aagttcatac
     1741 cgtagtagca tcaaacaatg ggtcagtgtt ctcggtggaa gttgatgggt cgaaactaaa
     1801 tgtgaccagc acgtggaacc tggcttcgcc cttattgtct gtcagcgttg atggcactca
     1861 gaggactgtc cagtgtcttt ctcgagaagc aggtggaaac atgagcattc agtttcttgg
     1921 tacagtgtac aaggtgaata tcttaaccag acttgccgca gaattgaaca aatttatgct
     1981 ggaaaaagtg actgaggaca caagcagtgt tctgcgttcc ccgatgcccg gagtggtggt
     2041 ggccgtctct gtcaagcctg gagacgcggt agcagaaggt caagaaattt gtgtgattga
     2101 agccatgaaa atgcagaata gtatgacagc tgggaaaact ggcacggtga aatctgtgca
     2161 ctgtcaagct ggagacacag ttggagaagg ggatctgctc gtggagctgg aatgaaggat
     2221 ttataacctt tcagtcatca cccaatttaa ttagccattt gcatgatgct ttcacacaca
     2281 attgattcaa gcattataca ggaacacccc tgtgcagcta cgtttacgtc gtcatttatt
     2341 ccacagagtc aagaccaata ttctgccaaa aaatcaccaa tggaaatttt cattgatata
     2401 aatacttgta catatgattt gtacttctgc tgtgagattc cctagtgtca aaattaaatc
     2461 aataaaactg agcatttgtc taaa
//
LOCUS       NM_000283               3294 bp    mRNA    linear   PRI 03-APR-2023
DEFINITION  Homo sapiens phosphodiesterase 6B (PDE6B), transcript variant 1,
            mRNA.
ACCESSION   NM_000283
VERSION     NM_000283.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3294)
  AUTHORS   Aziz N, Ullah M, Rashid A, Hussain Z, Shah K, Awan A, Khan M, Ullah
            I and Rehman AU.
  TITLE     A novel homozygous missense substitution p.Thr313Ile in the PDE6B
            gene underlies autosomal recessive retinitis pigmentosa in a
            consanguineous Pakistani family
  JOURNAL   BMC Ophthalmol 23 (1), 116 (2023)
   PUBMED   36959549
  REMARK    GeneRIF: A novel homozygous missense substitution p.Thr313Ile in the
            PDE6B gene underlies autosomal recessive retinitis pigmentosa in a
            consanguineous Pakistani family. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3294)
  AUTHORS   Sangermano R, Biswas P, Sullivan LS, Place EM, Borooah S, Straubhaar
            J, Pierce EA, Daiger SP, Bujakowska KM and Ayaggari R.
  TITLE     Identification of a novel large multigene deletion and a frameshift
            indel in PDE6B as the underlying cause of early-onset recessive
            rod-cone degeneration
  JOURNAL   Cold Spring Harb Mol Case Stud 8 (7), a006247 (2022)
   PUBMED   36376065
  REMARK    GeneRIF: Identification of a novel large multigene deletion and a
            frameshift indel in PDE6B as the underlying cause of early-onset
            recessive rod-cone degeneration. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3294)
  AUTHORS   Li Y, Li R, Dai H and Li G.
  TITLE     Novel variants in PDE6A and PDE6B genes and its phenotypes in
            patients with retinitis pigmentosa in Chinese families
  JOURNAL   BMC Ophthalmol 22 (1), 27 (2022)
   PUBMED   35033039
  REMARK    GeneRIF: Novel variants in PDE6A and PDE6B genes and its phenotypes
            in patients with retinitis pigmentosa in Chinese families.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3294)
  AUTHORS   Cote RH, Gupta R, Irwin MJ and Wang X.
  TITLE     Photoreceptor Phosphodiesterase (PDE6): Structure, Regulatory
            Mechanisms, and Implications for Treatment of Retinal Diseases
  JOURNAL   Adv Exp Med Biol 1371, 33-59 (2022)
   PUBMED   34170501
  REMARK    GeneRIF: Photoreceptor Phosphodiesterase (PDE6): Structure,
            Regulatory Mechanisms, and Implications for Treatment of Retinal
            Diseases. Review article
REFERENCE   5  (bases 1 to 3294)
  AUTHORS   Marconi,S. and Stout,J.T.
  TITLE     PDE6B Mutation-associated Inherited Retinal Disease
  JOURNAL   Int Ophthalmol Clin 61 (4), 133-142 (2021)
   PUBMED   34584050
  REMARK    GeneRIF: PDE6B Mutation-associated Inherited Retinal Disease.
REFERENCE   6  (bases 1 to 3294)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
REFERENCE   7  (bases 1 to 3294)
  AUTHORS   Collins C, Hutchinson G, Kowbel D, Riess O, Weber B and Hayden MR.
  TITLE     The human beta-subunit of rod photoreceptor cGMP phosphodiesterase:
            complete retinal cDNA sequence and evidence for expression in brain
  JOURNAL   Genomics 13 (3), 698-704 (1992)
   PUBMED   1322354
REFERENCE   8  (bases 1 to 3294)
  AUTHORS   Altherr MR, Wasmuth JJ, Seldin MF, Nadeau JH, Baehr W and Pittler
            SJ.
  TITLE     Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase
            beta-subunit gene in mouse and human: tight linkage to the
            Huntington disease region (4p16.3)
  JOURNAL   Genomics 12 (4), 750-754 (1992)
   PUBMED   1315306
REFERENCE   9  (bases 1 to 3294)
  AUTHORS   Bateman JB, Klisak I, Kojis T, Mohandas T, Sparkes RS, Li TS,
            Applebury ML, Bowes C and Farber DB.
  TITLE     Assignment of the beta-subunit of rod photoreceptor cGMP
            phosphodiesterase gene PDEB (homolog of the mouse rd gene) to human
            chromosome 4p16
  JOURNAL   Genomics 12 (3), 601-603 (1992)
   PUBMED   1313787
REFERENCE   10  (bases 1 to 3294)
  AUTHORS   Farber,D.B. and Lolley,R.N.
  TITLE     Enzymic basis for cyclic GMP accumulation in degenerative
            photoreceptor cells of mouse retina
  JOURNAL   J Cyclic Nucleotide Res 2 (3), 139-148 (1976)
   PUBMED   6493
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: S41458.1, X66142.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000496514.6/ ENSP00000420295.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC107464.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 26, 2020 this sequence version replaced NM_000283.3.
            Summary: Photon absorption triggers a signaling cascade in rod
            photoreceptors that activates cGMP phosphodiesterase (PDE),
            resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated
            cation channels, and hyperpolarization of the cell. PDE is a
            peripheral membrane heterotrimeric enzyme made up of alpha, beta,
            and gamma subunits. This gene encodes the beta subunit. Mutations
            in this gene result in retinitis pigmentosa and autosomal dominant
            congenital stationary night blindness. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Feb 2009].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3294
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..3294
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /note="phosphodiesterase 6B"
                     /db_xref="GeneID:5158"
                     /db_xref="HGNC:HGNC:8786"
                     /db_xref="MIM:180072"
     misc_feature    2
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /note="5'-most transcription initiation site"
     misc_feature    33
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /note="alternative transcription initiation site"
     CDS             55..2619
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /EC_number="3.1.4.35"
                     /note="isoform 1 is encoded by transcript variant 1; rod
                     cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta;
                     rod cGMP-phosphodiesterase beta-subunit; GMP-PDE beta;
                     phosphodiesterase 6B, cGMP-specific, rod, beta"
                     /codon_start=1
                     /product="rod cGMP-specific 3',5'-cyclic phosphodiesterase
                     subunit beta isoform 1"
                     /protein_id="NP_000274.3"
                     /db_xref="CCDS:CCDS33932.1"
                     /db_xref="GeneID:5158"
                     /db_xref="HGNC:HGNC:8786"
                     /db_xref="MIM:180072"
                     /translation="MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCD
                     SLRDLCQVEESTALLELVQDMQESINMERVVFKVLRRLCTLLQADRCSLFMYRQRNGVA
                     ELATRLFSVQPDSVLEDCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHFSSF
                     ADELTDYKTKNMLATPIMNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATLYLKI
                     YHLSYLHNCETRRGQVLLWSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMT
                     KEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWAL
                     ASGLPSYVAESGFICNIMNASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVA
                     TFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKC
                     DRDEIQLILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLV
                     KCGIQMYYELGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTG
                     KLKSYYTDLEAFAMVTAGLCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKF
                     LLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMFQKIVDESKNYQDKKS
                     WVEYLSLETTRKEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQ
                     QPIPMMDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALAD
                     EYEAKVKALEEKEEEERVAAKKVGTEICNGGPAPKSSTCCIL"
     mat_peptide     58..2607
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /product="Rod cGMP-specific 3',5'-cyclic phosphodiesterase
                     subunit beta. /id=PRO_0000023348"
                     /note="propagated from UniProtKB/Swiss-Prot (P35913.2)"
     misc_feature    58..60
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /note="N-acetylserine.
                     /evidence=ECO:0000250|UniProtKB:P23439; propagated from
                     UniProtKB/Swiss-Prot (P35913.2); acetylation site"
     regulatory      3279..3284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /note="hexamer: AATAAA"
     polyA_site      3294
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /note="major polyA site"
ORIGIN
        1 ctgggagtcc atgcgtgcct ggagcagcag cgtctccagg gacaggcagc caccatgagc
       61 ctcagtgagg agcaggcccg gagctttctg gaccagaacc ccgattttgc ccgccagtac
      121 tttgggaaga aactgagccc tgagaatgtg gccgcggcct gcgaggacgg gtgcccgccg
      181 gactgcgaca gcctccggga cctctgccag gtggaggaga gcacggcgct gctggagctg
      241 gtgcaggata tgcaggagag catcaacatg gagcgcgtgg tcttcaaggt cctgcggcgc
      301 ctctgcaccc tcctgcaggc cgaccgctgc agcctcttca tgtaccgcca gcgcaacggc
      361 gtggccgagc tggccaccag gcttttcagc gtgcagccgg acagcgtcct ggaggactgc
      421 ctggtgcccc ccgactccga gatcgtcttc ccactggaca tcggggtcgt gggccacgtg
      481 gctcagacca aaaagatggt gaacgtcgag gacgtggccg agtgccctca cttcagctca
      541 tttgctgacg agctcactga ctacaagaca aagaatatgc tggccacacc catcatgaat
      601 ggcaaagacg tcgtggcggt gatcatggca gtgaacaagc tcaacggccc attcttcacc
      661 agcgaagacg aagatgtgtt cttgaagtac ctgaattttg ccacgttgta cctgaagatc
      721 tatcacctga gctacctcca caactgcgag acgcgccgcg gccaggtgct gctgtggtcg
      781 gccaacaagg tgtttgagga gctgacggac atcgagaggc agttccacaa ggccttctac
      841 acggtgcggg cctacctcaa ctgcgagcgg tactccgtgg gcctcctgga catgaccaag
      901 gagaaggaat tttttgacgt gtggtctgtg ctgatgggag agtcccagcc gtactcgggc
      961 ccacgcacgc ctgatggccg ggaaattgtc ttctacaaag tgatcgacta cgtcctccac
     1021 ggcaaggagg agatcaaggt cattcccaca ccctcagccg atcactgggc cctggccagc
     1081 ggccttccaa gctacgtggc agaaagcggc tttatttgta acatcatgaa tgcttccgct
     1141 gacgaaatgt tcaaatttca ggaaggggcc ctggacgact ccgggtggct catcaagaat
     1201 gtgctgtcca tgcccatcgt caacaagaag gaggagattg tgggagtcgc cacattttac
     1261 aacaggaaag acgggaagcc ctttgacgaa caggacgagg ttctcatgga gtccctgaca
     1321 cagttcctgg gctggtcagt gatgaacacc gacacctacg acaagatgaa caagctggag
     1381 aaccgcaagg acatcgcaca ggacatggtc ctttaccacg tgaagtgcga cagggacgag
     1441 atccagctca tcctgccaac cagagcgcgc ctggggaagg agcctgctga ctgcgatgag
     1501 gacgagctgg gcgaaatcct gaaggaggag ctgccagggc ccaccacatt tgacatctac
     1561 gaattccact tctctgacct ggagtgcacc gaactggacc tggtcaaatg tggcatccag
     1621 atgtactacg agctgggcgt ggtccgaaag ttccagatcc cccaggaggt cctggtgcgg
     1681 ttcctgttct ccatcagcaa agggtaccgg agaatcacct accacaactg gcgccacggc
     1741 ttcaacgtgg cccagacgat gttcacgctg ctcatgaccg gcaaactgaa gagctactac
     1801 acggacctgg aggccttcgc catggtgaca gccggcctgt gccatgacat cgaccaccgc
     1861 ggcaccaaca acctgtacca gatgaagtcc cagaacccct tggctaagct ccacggctcc
     1921 tcgattttgg agcggcacca cctggagttt gggaagttcc tgctctcgga ggagaccctg
     1981 aacatctacc agaacctgaa ccggcggcag cacgagcacg tgatccacct gatggacatc
     2041 gccatcatcg ccacggacct ggccctgtac ttcaagaaga gagcgatgtt tcagaagatc
     2101 gtggatgagt ccaagaacta ccaggacaag aagagctggg tggagtacct gtccctggag
     2161 acgacccgga aggagatcgt catggccatg atgatgacag cctgcgacct gtctgccatc
     2221 accaagccct gggaagtcca gagcaaggtc gcacttctcg tggctgctga gttctgggag
     2281 caaggtgact tggaaaggac agtcttggat cagcagccca ttcctatgat ggaccggaac
     2341 aaggcggccg agctccccaa gctgcaagtg ggcttcatcg acttcgtgtg cacattcgtg
     2401 tacaaggagt tctctcgttt ccacgaagag atcctgccca tgttcgaccg actgcagaac
     2461 aataggaaag agtggaaggc gctggctgat gagtatgagg ccaaagtgaa ggctctggag
     2521 gagaaggagg aggaggagag ggtggcagcc aagaaagtag gcacagaaat ttgcaatggc
     2581 ggcccagcac ccaagtcttc aacctgctgt atcctgtgag cactggtccc atggggaccc
     2641 tatggctccc tcaatcttca cccactagga tttgggttct gcctgtggct atttgctaca
     2701 agaggttagg aagcccaaga aaatgactga agatcattct ggatatttta attttttttt
     2761 tttttttttt ttgagatgga gtcttgctct gtcacccagg ctggagtgcc gtggcacgat
     2821 ctcagctcac tgcaacctcc acctcccagg ttcaagcgat tctcgtgcct cagcctcctg
     2881 agtagctggg actacaggcg cccaccacca cacatggcta atttttgtat tttcagtaca
     2941 gatggggttt caccatattg ggcaggctgg tctcgaactc ctgacctcag gtgatcaccc
     3001 gcctcagctt cctgaagtgc tgggattaca ggcatgagcc accacgccca gcctgttttt
     3061 ataaactgaa gccaactgtg aataaactgt agcctacatt actcatccat ttttggatag
     3121 ttaccactgg gagacctttg aaaagggtcc atgaactctg aaatcactga gaacatttgc
     3181 agccacacat gtacatatgt gtacacaggt agacagatgg acacaggccg tttctcatcc
     3241 agtttaggaa aacacacatg ctcaggaatt cagaataaaa taaacagaaa acta
//
LOCUS       NM_000284               3349 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens pyruvate dehydrogenase E1 subunit alpha 1 (PDHA1),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000284
VERSION     NM_000284.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3349)
  AUTHORS   An S, Yao Y, Hu H, Wu J, Li J, Li L, Wu J, Sun M, Deng Z, Zhang Y,
            Gong S, Huang Q, Chen Z and Zeng Z.
  TITLE     PDHA1 hyperacetylation-mediated lactate overproduction promotes
            sepsis-induced acute kidney injury via Fis1 lactylation
  JOURNAL   Cell Death Dis 14 (7), 457 (2023)
   PUBMED   37479690
  REMARK    GeneRIF: PDHA1 hyperacetylation-mediated lactate overproduction
            promotes sepsis-induced acute kidney injury via Fis1 lactylation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3349)
  AUTHORS   Pinho SA, Costa CF, Deus CM, Pinho SLC, Miranda-Santos I, Afonso G,
            Bagshaw O, Stuart JA, Oliveira PJ and Cunha-Oliveira T.
  TITLE     Mitochondrial and metabolic remodelling in human skin fibroblasts in
            response to glucose availability
  JOURNAL   FEBS J 289 (17), 5198-5217 (2022)
   PUBMED   35213938
REFERENCE   3  (bases 1 to 3349)
  AUTHORS   Wang CH, Lu WL, Chiang SL, Tsai TH, Liu SC, Hsieh CH, Su PH, Huang
            CY, Tsai FJ, Lin YJ and Huang YN.
  TITLE     T Cells Mediate Kidney Tubular Injury via Impaired PDHA1 and
            Autophagy in Type 1 Diabetes
  JOURNAL   J Clin Endocrinol Metab 107 (9), 2556-2570 (2022)
   PUBMED   35731579
  REMARK    GeneRIF: T Cells Mediate Kidney Tubular Injury via Impaired PDHA1
            and Autophagy in Type 1 Diabetes.
REFERENCE   4  (bases 1 to 3349)
  AUTHORS   Chevalier B, Baatallah N, Najm M, Castanier S, Jung V, Pranke I,
            Golec A, Stoven V, Marullo S, Antigny F, Guerrera IC,
            Sermet-Gaudelus I, Edelman A and Hinzpeter A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures Identify
            Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3349)
  AUTHORS   Zhang Y, Zhao M, Gao H, Yu G, Zhao Y, Yao F and Yang W.
  TITLE     MAPK signalling-induced phosphorylation and subcellular
            translocation of PDHE1alpha promotes tumour immune evasion
  JOURNAL   Nat Metab 4 (3), 374-388 (2022)
   PUBMED   35315437
  REMARK    GeneRIF: MAPK signalling-induced phosphorylation and subcellular
            translocation of PDHE1alpha promotes tumour immune evasion.
REFERENCE   6  (bases 1 to 3349)
  AUTHORS   Ganetzky,R., McCormick,E.M. and Falk,M.J.
  TITLE     Primary Pyruvate Dehydrogenase Complex Deficiency Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   34138529
REFERENCE   7  (bases 1 to 3349)
  AUTHORS   De Meirleir L, Lissens W, Vamos E and Liebaers I.
  TITLE     Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair
            insertion mutation in the E1 alpha subunit
  JOURNAL   Hum Genet 88 (6), 649-652 (1992)
   PUBMED   1551669
REFERENCE   8  (bases 1 to 3349)
  AUTHORS   Ito M, Huq AH, Naito E, Saijo T, Takeda E and Kuroda Y.
  TITLE     Mutation of E1 alpha gene in a female patient with pyruvate
            dehydrogenase deficiency due to rapid degradation of E1 protein
  JOURNAL   J Inherit Metab Dis 15 (6), 848-856 (1992)
   PUBMED   1338114
REFERENCE   9  (bases 1 to 3349)
  AUTHORS   Dahl HH, Brown GK, Brown RM, Hansen LL, Kerr DS, Wexler ID, Patel
            MS, De Meirleir L, Lissens W, Chun K et al.
  TITLE     Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha
            gene
  JOURNAL   Hum Mutat 1 (2), 97-102 (1992)
   PUBMED   1301207
  REMARK    Review article
REFERENCE   10  (bases 1 to 3349)
  AUTHORS   Dahl HH, Hansen LL, Brown RM, Danks DM, Rogers JG and Brown GK.
  TITLE     X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in
            heterozygous females: variable manifestation of the same mutation
  JOURNAL   J Inherit Metab Dis 15 (6), 835-847 (1992)
   PUBMED   1293379
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.267695.1,
            SRR1803615.9181.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000422285.7/ ENSP00000394382.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC361191.1, L13318.1,
            BU170389.1, AL732326.4 and R49470.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000284.3.
            Summary: The pyruvate dehydrogenase (PDH) complex is a
            nuclear-encoded mitochondrial multienzyme complex that catalyzes
            the overall conversion of pyruvate to acetyl-CoA and CO(2), and
            provides the primary link between glycolysis and the tricarboxylic
            acid (TCA) cycle. The PDH complex is composed of multiple copies of
            three enzymatic components: pyruvate dehydrogenase (E1),
            dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase
            (E3). The E1 enzyme is a heterotetramer of two alpha and two beta
            subunits. This gene encodes the E1 alpha 1 subunit containing the
            E1 active site, and plays a key role in the function of the PDH
            complex. Mutations in this gene are associated with pyruvate
            dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene.[provided by RefSeq, Mar
            2010].
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3349
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.12"
     gene            1..3349
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /note="pyruvate dehydrogenase E1 subunit alpha 1"
                     /db_xref="GeneID:5160"
                     /db_xref="HGNC:HGNC:8806"
                     /db_xref="MIM:300502"
     CDS             112..1284
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /EC_number="1.2.4.1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; pyruvate dehydrogenase E1 component subunit alpha,
                     somatic form, mitochondrial; PDHE1-A type I; pyruvate
                     dehydrogenase alpha 1; pyruvate dehydrogenase (lipoamide)
                     alpha 1; pyruvate dehydrogenase complex, E1-alpha
                     polypeptide 1; pyruvate dehydrogenase E1 alpha 1 subunit"
                     /codon_start=1
                     /product="pyruvate dehydrogenase E1 component subunit
                     alpha, somatic form, mitochondrial isoform 1 precursor"
                     /protein_id="NP_000275.1"
                     /db_xref="CCDS:CCDS14192.1"
                     /db_xref="GeneID:5160"
                     /db_xref="HGNC:HGNC:8806"
                     /db_xref="MIM:300502"
                     /translation="MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHR
                     LEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGL
                     EAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGG
                     NGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFIC
                     ENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPIL
                     MELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDV
                     EVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS"
     transit_peptide 112..198
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
     mat_peptide     199..1281
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /product="pyruvate dehydrogenase E1 component subunit
                     alpha, somatic form, mitochondrial isoform 1"
     misc_feature    298..300
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P08559.3); acetylation site"
     misc_feature    805..807
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /note="Phosphoserine, by PDK1.
                     /evidence=ECO:0000269|PubMed:11486000,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P08559.3); phosphorylation site"
     misc_feature    841..843
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P08559.3); acetylation site"
     misc_feature    988..990
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /note="Phosphoserine, by PDK1, PDK2, PDK3 and PDK4.
                     /evidence=ECO:0000269|PubMed:11486000,
                     ECO:0000269|PubMed:17474719, ECO:0000269|PubMed:19081061;
                     propagated from UniProtKB/Swiss-Prot (P08559.3);
                     phosphorylation site"
     misc_feature    994..996
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P08559.3); phosphorylation site"
     misc_feature    1009..1011
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /note="Phosphoserine, by PDK1, PDK2, PDK3 and PDK4.
                     /evidence=ECO:0000269|PubMed:11486000,
                     ECO:0000269|PubMed:19081061; propagated from
                     UniProtKB/Swiss-Prot (P08559.3); phosphorylation site"
     misc_feature    1012..1014
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P08559.3); phosphorylation site"
     misc_feature    1048..1050
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P08559.3); acetylation site"
     misc_feature    1072..1074
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P08559.3); acetylation site"
     misc_feature    1117..1119
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P35486; propagated from
                     UniProtKB/Swiss-Prot (P08559.3); acetylation site"
     regulatory      1453..1458
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /note="hexamer: ATTAAA"
     polyA_site      1486
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /note="major polyA site"
     regulatory      3262..3267
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /note="hexamer: CATAAA"
     polyA_site      3282
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
     regulatory      3294..3299
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
                     /note="hexamer: AATAAA"
     polyA_site      3316
                     /gene="PDHA1"
                     /gene_synonym="E1alpha; PDHA; PDHAD; PDHCE1A; PHE1A"
ORIGIN
        1 ggtgcgactg aggcgtggcg tctgctgggg cacctgaagg agacttgggg gcacccgcgt
       61 cgtgcctcct gggttgtgag gagtcgccgc tgccgccact gcctgtgctt catgaggaag
      121 atgctcgccg ccgtctcccg cgtgctgtct ggcgcttctc agaagccggc aagcagagtg
      181 ctggtagcat cccgtaattt tgcaaatgat gctacatttg aaattaagaa atgtgacctt
      241 caccggctgg aagaaggccc tcctgtcaca acagtgctca ccagggagga tgggctcaaa
      301 tactacagga tgatgcagac tgtacgccga atggagttga aagcagatca gctgtataaa
      361 cagaaaatta ttcgtggttt ctgtcacttg tgtgatggtc aggaagcttg ctgtgtgggc
      421 ctggaggccg gcatcaaccc cacagaccat ctcatcacag cctaccgggc tcacggcttt
      481 actttcaccc ggggcctttc cgtccgagaa attctcgcag agcttacagg acgaaaagga
      541 ggttgtgcta aagggaaagg aggatcgatg cacatgtatg ccaagaactt ctacgggggc
      601 aatggcatcg tgggagcgca ggtgcccctg ggcgctggga ttgctctagc ctgtaagtat
      661 aatggaaaag atgaggtctg cctgacttta tatggcgatg gtgctgctaa ccagggccag
      721 atattcgaag cttacaacat ggcagctttg tggaaattac cttgtatttt catctgtgag
      781 aataatcgct atggaatggg aacgtctgtt gagagagcgg cagccagcac tgattactac
      841 aagagaggcg atttcattcc tgggctgaga gtggatggaa tggatatcct gtgcgtccga
      901 gaggcaacaa ggtttgctgc tgcctattgt agatctggga aggggcccat cctgatggag
      961 ctgcagactt accgttacca cggacacagt atgagtgacc ctggagtcag ttaccgtaca
     1021 cgagaagaaa ttcaggaagt aagaagtaag agtgacccta ttatgcttct caaggacagg
     1081 atggtgaaca gcaatcttgc cagtgtggaa gaactaaagg aaattgatgt ggaagtgagg
     1141 aaggagattg aggatgctgc ccagtttgcc acggccgatc ctgagccacc tttggaagag
     1201 ctgggctacc acatctactc cagcgaccca ccttttgaag ttcgtggtgc caatcagtgg
     1261 atcaagttta agtcagtcag ttaaggggag gagaaggaga ggttatacct tcagggggct
     1321 accagacagt gttctcaact tggttaagga ggaagaaaac ccagtcaatg aaattcaatg
     1381 aaattcttgg aaacttccat taagtgtgta gattgagcag gtagtaattg catgcagttt
     1441 gtacattagt gcattaaaag atgaattatt gagtgcttaa agattatttt tgacttaaaa
     1501 tagtatactt tgaacaaata ctctaattat gaaaaggaag aacaattcct tgtatgcctg
     1561 tttcccctgc ccccagccac ctttttggga ggagaccatt atggcggggc ccctcacagc
     1621 attctaccaa ccatagcacc caccccgagc agcgctggtg ctgcagcctg ttcgcgctga
     1681 ccatttctct acaagataca atatttatta tcaggcaaga ggacagttcc attttaaaat
     1741 aagacttttg taatcattcc aattttgtaa tcatttcaaa ggccacataa cttagttttc
     1801 tctacttaca cattcagtat aaatatgaag ctattttctg ttcatatcaa acattaacta
     1861 caaggcacat tcgtatcagt tttgtgtttc tcaaattgaa gtaccatacc agttctgagg
     1921 cagtgtccca gcttccatgt ttgttaaata ccccttgttt gtttcaccat tccagcaagt
     1981 gctgaagggt gtactttttt tgagacaggg tcgggctctg ttgcccaggc tggagtgcag
     2041 tggtgtgatc atggctcact gcagcctcca cacctcctgg gctcaagcaa tcctcccacc
     2101 tcagcctcct gcatagctgg gactacaagt gaatttccta atattccggg aggtcaaaac
     2161 caaggctcac tgttttcaca atacacacag ttctatgttt ataaataaca ggtttcaaaa
     2221 gaaactcagg acagtattta aaacaagttc ttaaactatt aattgaacaa tggcattttt
     2281 aaatatgtaa acacagcgga attcgtgtat acactaacag aagctttaac aaaacatgta
     2341 gcgtggtggg acactctgcc acagcttagc tgattggtat caagccttgt ctttggtttc
     2401 tgaggcctcc tgagcccttc tgtactggga gaccgcactc cagagtctgc agaggagacc
     2461 acccctggga aacaaacaca gctgtcttca gagtcagtgc ttcaagccaa cagagcttaa
     2521 aactgcagtc cctaatttaa aaacctaatg aaaataaaaa cattctcctc acatatggag
     2581 gtgacgctcg tgtcccagca gtagtaggac atggccttag aggtacgtac ctgcagagag
     2641 ctggctattt caaatgactc gggaacaaga aggcaggctg cagtttaaag aagggggtgg
     2701 gtccagcgtg caggcacgct tgccatgtgc ctccacccac tcccagccag gcattaatgg
     2761 caggagattg gccagctctt ctctgtcaca ttcctatttc tgacttctgc ctggctttca
     2821 gtttctgccc caccttggct ttttcccagc ttgaacctaa tagaactcca gagtttgggg
     2881 ggaggcccag ccctttgttt tctgctcttg aagcatattc acacataaaa agttgtattc
     2941 tcttatacaa actgttttga ggctcttacc gtagtcgaag gtatcttaga tcttccttag
     3001 tgatctcatt aagaatatcc gaaagtgtat aaccctcttc aacaatctga aacaaagatc
     3061 agatccttaa gagctgagca gctgtgtaac aacagcataa gaatttcttt gttgtaaatt
     3121 taccttttca attgtctttg catcagctcc ttgcagccgc aaccagtcta taagctcttt
     3181 atctgttctc tgcccgtagg ggcctgctgg gttctctgta atacctgtaa cgattggcaa
     3241 tttgttatat attagtctaa ccataaaact cttcaaaagt aaccagttgg attaataaat
     3301 gattccagaa tgtaaatgtg atgtgaaaaa gagatgaatt aaccctgta
//
LOCUS       NM_000285               1907 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA.
ACCESSION   NM_000285
VERSION     NM_000285.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1907)
  AUTHORS   Erol Koc EM, Ceyhan M, Yaman S, Neselioglu S, Erel O and Ozaksit MG.
  TITLE     Prolidase as a marker of fibrogenesis in idiopathic primary ovarian
            insufficiency
  JOURNAL   Eur J Obstet Gynecol Reprod Biol 281, 7-11 (2023)
   PUBMED   36521400
  REMARK    GeneRIF: Prolidase as a marker of fibrogenesis in idiopathic primary
            ovarian insufficiency.
REFERENCE   2  (bases 1 to 1907)
  AUTHORS   Ozturk A, Agbektas T, Tas A, Gul MA, Karadag A and Silig Y.
  TITLE     The relationship between serum prolidase activity and histone H3
            protein levels and fibromyalgia
  JOURNAL   Eur Rev Med Pharmacol Sci 26 (24), 9098-9106 (2022)
   PUBMED   36591822
  REMARK    GeneRIF: The relationship between serum prolidase activity and
            histone H3 protein levels and fibromyalgia.
REFERENCE   3  (bases 1 to 1907)
  AUTHORS   Rao SD, Chen Q, Wang Q, Orth-He EL, Saoi M, Griswold AR,
            Bhattacharjee A, Ball DP, Huang HC, Chui AJ, Covelli DJ, You S,
            Cross JR and Bachovchin DA.
  TITLE     M24B aminopeptidase inhibitors selectively activate the CARD8
            inflammasome
  JOURNAL   Nat Chem Biol 18 (5), 565-574 (2022)
   PUBMED   35165443
REFERENCE   4  (bases 1 to 1907)
  AUTHORS   Yang L, Li Y, Bhattacharya A and Zhang Y.
  TITLE     Loss of peptidase D binding restores the tumor suppressor functions
            of oncogenic p53 mutants
  JOURNAL   Commun Biol 4 (1), 1373 (2021)
   PUBMED   34880421
  REMARK    GeneRIF: Loss of peptidase D binding restores the tumor suppressor
            functions of oncogenic p53 mutants. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1907)
  AUTHORS   Rossignol,F., Wang,H. and Ferreira,C.
  TITLE     Prolidase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   26110198
REFERENCE   6  (bases 1 to 1907)
  AUTHORS   Tanoue A, Endo F and Matsuda I.
  TITLE     Structural organization of the gene for human prolidase (peptidase
            D) and demonstration of a partial gene deletion in a patient with
            prolidase deficiency
  JOURNAL   J Biol Chem 265 (19), 11306-11311 (1990)
   PUBMED   1972707
REFERENCE   7  (bases 1 to 1907)
  AUTHORS   Tanoue A, Endo F, Kitano A and Matsuda I.
  TITLE     A single nucleotide change in the prolidase gene in fibroblasts from
            two patients with polypeptide positive prolidase deficiency.
            Expression of the mutant enzyme in NIH 3T3 cells
  JOURNAL   J Clin Invest 86 (1), 351-355 (1990)
   PUBMED   2365824
REFERENCE   8  (bases 1 to 1907)
  AUTHORS   Boright AP, Scriver CR, Lancaster GA and Choy F.
  TITLE     Prolidase deficiency: biochemical classification of alleles
  JOURNAL   Am J Hum Genet 44 (5), 731-740 (1989)
   PUBMED   2705457
REFERENCE   9  (bases 1 to 1907)
  AUTHORS   Endo F, Tanoue A, Nakai H, Hata A, Indo Y, Titani K and Matsuda I.
  TITLE     Primary structure and gene localization of human prolidase
  JOURNAL   J Biol Chem 264 (8), 4476-4481 (1989)
   PUBMED   2925654
REFERENCE   10  (bases 1 to 1907)
  AUTHORS   Friedrich,U., Brunner,H., Smeets,D., Lambermon,E. and Ropers,H.H.
  TITLE     Three-point linkage analysis employing C3 and 19cen markers assigns
            the myotonic dystrophy gene to 19q
  JOURNAL   Hum Genet 75 (3), 291-293 (1987)
   PUBMED   2881880
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.640554.1,
            SRR3476690.130374.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2159080
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000244137.12/ ENSP00000244137.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC015027.1 and AW512991.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000285.3.
            Summary: This gene encodes a member of the peptidase family. The
            protein forms a homodimer that hydrolyzes dipeptides or tripeptides
            with C-terminal proline or hydroxyproline residues. The enzyme
            serves an important role in the recycling of proline, and may be
            rate limiting for the production of collagen. Mutations in this
            gene result in prolidase deficiency, which is characterized by the
            excretion of large amount of di- and tri-peptides containing
            proline. Multiple transcript variants encoding different isoforms
            have been found for this gene.[provided by RefSeq, Oct 2009].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1907
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..1907
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /note="peptidase D"
                     /db_xref="GeneID:5184"
                     /db_xref="HGNC:HGNC:8840"
                     /db_xref="MIM:613230"
     misc_feature    11..13
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /note="upstream in-frame stop codon"
     CDS             32..1513
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /EC_number="3.4.13.9"
                     /note="isoform 1 is encoded by transcript variant 1;
                     proline dipeptidase; xaa-Pro dipeptidase; imidodipeptidase;
                     aminoacyl-L-proline hydrolase; X-Pro dipeptidase;
                     testicular tissue protein Li 138"
                     /codon_start=1
                     /product="xaa-Pro dipeptidase isoform 1"
                     /protein_id="NP_000276.2"
                     /db_xref="CCDS:CCDS42544.1"
                     /db_xref="GeneID:5184"
                     /db_xref="HGNC:HGNC:8840"
                     /db_xref="MIM:613230"
                     /translation="MAAATGPSFWLGNETLKVPLALFALNRQRLCERLRKNPAVQAGSI
                     VVLQGGEETQRYCTDTGVLFRQESFFHWAFGVTEPGCYGVIDVDTGKSTLFVPRLPASH
                     ATWMGKIHSKEHFKEKYAVDDVQYVDEIASVLTSQKPSVLLTLRGVNTDSGSVCREASF
                     DGISKFEVNNTILHPEIVECRVFKTDMELEVLRYTNKISSEAHREVMKAVKVGMKEYEL
                     ESLFEHYCYSRGGMRHSSYTCICGSGENSAVLHYGHAGAPNDRTIQNGDMCLFDMGGEY
                     YCFASDITCSFPANGKFTADQKAVYEAVLRSSRAVMGAMKPGVWWPDMHRLADRIHLEE
                     LAHMGILSGSVDAMVQAHLGAVFMPHGLGHFLGIDVHDVGGYPEGVERIDEPGLRSLRT
                     ARHLQPGMVLTVEPGIYFIDHLLDEALADPARASFLNREVLQRFRGFGGVRIEEDVVVT
                     DSGIELLTCVPRTVEEIEACMAGCDKAFTPFSGPK"
     misc_feature    35..37
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (P12955.3); acetylation site"
     misc_feature    530..532
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P12955.3); phosphorylation site"
     regulatory      1884..1889
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /note="hexamer: AATAAA"
     polyA_site      1907
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /note="major polyA site"
ORIGIN
        1 gcacttcacg tgacgccggt gccgggcgaa catggcggcg gccaccggac cctcgttttg
       61 gctggggaat gaaaccctga aggtgccgct ggcgctcttt gccttgaacc ggcagcgcct
      121 gtgtgagcgg ctgcggaaga accctgctgt gcaggccggc tccatcgtgg tcctgcaggg
      181 cggggaggag actcagcgct actgcaccga caccggggtc ctcttccgcc aggagtcctt
      241 ctttcactgg gcgttcggtg tcactgagcc aggctgctat ggtgtcatcg atgttgacac
      301 tgggaagtcg accctgtttg tgcccaggct tcctgccagc catgccacct ggatgggaaa
      361 gatccattcc aaggagcact tcaaggagaa gtatgccgtg gacgacgtcc agtacgtaga
      421 tgagattgcc agcgtcctga cgtcacagaa gccctctgtc ctcctcactt tgcgtggcgt
      481 caacacggac agcggcagtg tctgcaggga ggcctccttt gacggcatca gcaagttcga
      541 agtcaacaat accattcttc acccagagat cgttgagtgc cgagtgttta agacggatat
      601 ggagctggag gttctgcgct ataccaataa aatctccagc gaggcccacc gtgaggtaat
      661 gaaggctgta aaagtgggaa tgaaagaata tgagttggaa agcctcttcg agcactactg
      721 ctactcccgg ggcggcatgc gccacagctc ctacacctgc atctgcggca gtggtgagaa
      781 ctcagccgtg ctacactacg gacacgccgg agctcccaac gaccgaacga tccagaatgg
      841 ggatatgtgc ctgttcgaca tgggcggtga gtattactgc ttcgcttccg acatcacctg
      901 ctcctttccc gccaacggca agttcactgc agaccagaag gccgtctatg aggcagtgct
      961 gcggagctcc cgtgccgtca tgggtgccat gaagccaggt gtctggtggc ctgacatgca
     1021 ccgcctggct gaccgcatcc acctggagga gctggcccac atgggcatcc tgagcggcag
     1081 cgtggacgcc atggtccagg ctcacctggg ggccgtgttt atgcctcacg ggcttggcca
     1141 cttcctgggc attgacgtgc acgacgtggg aggctaccca gagggcgtgg agcgcatcga
     1201 cgagcccggc ctgcggagcc tgcgcactgc acggcacctg cagccaggca tggtgctcac
     1261 cgtggagccg ggcatctact tcatcgacca cctcctggat gaggccctgg cggacccggc
     1321 ccgcgcctcc ttccttaacc gcgaggtcct gcagcgcttt cgcggttttg gcggggtccg
     1381 catcgaggag gacgtcgtgg tgactgacag cggcatagag ctgctgacct gcgtgccccg
     1441 cactgtggaa gagattgaag catgcatggc aggctgtgac aaggccttta cccccttctc
     1501 tggccccaag tagagccagc cagaaatccc agcgcacctg ggggcctggc cttgcaacct
     1561 cttttcgtga tgggcagcct gctggtcagc actccagtag cgagagacgg cacccagaat
     1621 cagatcccag cttcggcatt tgatcagacc aaacagtgct gtttcccggg gaggaaacac
     1681 ttttttaatt acccttttgc aggctcccac ctttaatctg ttttatacct tgcttattaa
     1741 atgagcgact taaaatgatt gaaaataatg ctgttcttta gtagcaacta aaatgtgtct
     1801 tgctgtcatt tatattcctt ttcccaggaa agaagcattt ctgatacttt ctgtcaaaaa
     1861 tcaatatgca gaatggcatt tgcaataaaa ggtttcctaa aatggtc
//
LOCUS       NM_000286               2617 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.
ACCESSION   NM_000286
VERSION     NM_000286.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2617)
  AUTHORS   Feng P, Wu X, Erramilli SK, Paulo JA, Knejski P, Gygi SP, Kossiakoff
            AA and Rapoport TA.
  TITLE     A peroxisomal ubiquitin ligase complex forms a retrotranslocation
            channel
  JOURNAL   Nature 607 (7918), 374-380 (2022)
   PUBMED   35768507
REFERENCE   2  (bases 1 to 2617)
  AUTHORS   Zaki MS, Issa MY, Thomas MM, Elbendary HM, Rafat K, Al Menabawy NM,
            Selim LA, Ismail S, Abdel-Salam GM and Gleeson JG.
  TITLE     A founder mutation in PEX12 among Egyptian patients in peroxisomal
            biogenesis disorder
  JOURNAL   Neurol Sci 42 (7), 2737-2745 (2021)
   PUBMED   33123925
  REMARK    GeneRIF: A founder mutation in PEX12 among Egyptian patients in
            peroxisomal biogenesis disorder.
REFERENCE   3  (bases 1 to 2617)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2617)
  AUTHORS   Zhang J, Tripathi DN, Jing J, Alexander A, Kim J, Powell RT, Dere R,
            Tait-Mulder J, Lee JH, Paull TT, Pandita RK, Charaka VK, Pandita TK,
            Kastan MB and Walker CL.
  TITLE     ATM functions at the peroxisome to induce pexophagy in response to
            ROS
  JOURNAL   Nat Cell Biol 17 (10), 1259-1269 (2015)
   PUBMED   26344566
REFERENCE   5  (bases 1 to 2617)
  AUTHORS   Schrader M, Reuber BE, Morrell JC, Jimenez-Sanchez G, Obie C, Stroh
            TA, Valle D, Schroer TA and Gould SJ.
  TITLE     Expression of PEX11beta mediates peroxisome proliferation in the
            absence of extracellular stimuli
  JOURNAL   J Biol Chem 273 (45), 29607-29614 (1998)
   PUBMED   9792670
REFERENCE   6  (bases 1 to 2617)
  AUTHORS   Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T,
            Moser H, Wanders RJ, Suzuki Y, Kondo N and Fujiki Y.
  TITLE     PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA
            cloning by functional complementation on a CHO cell mutant, patient
            analysis, and characterization of PEX12p
  JOURNAL   Mol Cell Biol 18 (7), 4324-4336 (1998)
   PUBMED   9632816
REFERENCE   7  (bases 1 to 2617)
  AUTHORS   Okumoto,K. and Fujiki,Y.
  TITLE     PEX12 encodes an integral membrane protein of peroxisomes
  JOURNAL   Nat Genet 17 (3), 265-266 (1997)
   PUBMED   9354782
REFERENCE   8  (bases 1 to 2617)
  AUTHORS   Chang CC, Lee WH, Moser H, Valle D and Gould SJ.
  TITLE     Isolation of the human PEX12 gene, mutated in group 3 of the
            peroxisome biogenesis disorders
  JOURNAL   Nat Genet 15 (4), 385-388 (1997)
   PUBMED   9090384
REFERENCE   9  (bases 1 to 2617)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24501781
REFERENCE   10  (bases 1 to 2617)
  AUTHORS   Steinberg,S.J., Raymond,G.V., Braverman,N.E. and Moser,A.B.
  TITLE     Zellweger Spectrum Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301621
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.856607.1,
            SRR1660805.145609.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148093
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000225873.9/ ENSP00000225873.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA298874.1, U91521.1,
            BC031085.1 and AI341587.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000286.2.
            Summary: This gene belongs to the peroxin-12 family. Peroxins
            (PEXs) are proteins that are essential for the assembly of
            functional peroxisomes. The peroxisome biogenesis disorders (PBDs)
            are a group of genetically heterogeneous autosomal recessive,
            lethal diseases characterized by multiple defects in peroxisome
            function. The peroxisomal biogenesis disorders are a heterogeneous
            group with at least 14 complementation groups and with more than 1
            phenotype being observed in cases falling into particular
            complementation groups. Although the clinical features of PBD
            patients vary, cells from all PBD patients exhibit a defect in the
            import of one or more classes of peroxisomal matrix proteins into
            the organelle. Defects in this gene are a cause of Zellweger
            syndrome (ZWS). [provided by RefSeq, Oct 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2617
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..2617
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /note="peroxisomal biogenesis factor 12"
                     /db_xref="GeneID:5193"
                     /db_xref="HGNC:HGNC:8854"
                     /db_xref="MIM:601758"
     misc_feature    275..277
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /note="upstream in-frame stop codon"
     CDS             551..1630
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /note="peroxin 12; peroxisome assembly factor 3"
                     /codon_start=1
                     /product="peroxisome assembly protein 12"
                     /protein_id="NP_000277.1"
                     /db_xref="CCDS:CCDS11296.1"
                     /db_xref="GeneID:5193"
                     /db_xref="HGNC:HGNC:8854"
                     /db_xref="MIM:601758"
                     /translation="MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLA
                     ESNPTHYGFLWRWFDEIFTLLDLLLQQHYLSRTSASFSENFYGLKRIVMGDTHKSQRLA
                     SAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFLAAY
                     PFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQ
                     QPARSVSEKINSALKKAVGGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALPT
                     PPPPVHLDYNSDSPLLPKMKTVCPLCRKTRVNDTVLATSGYVFCYRCVFHYVRSHQACP
                     ITGYPTEVQHLIKLYSPEN"
     misc_feature    608..691
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /note="propagated from UniProtKB/Swiss-Prot (O00623.1);
                     transmembrane region"
     misc_feature    704..778
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /note="propagated from UniProtKB/Swiss-Prot (O00623.1);
                     transmembrane region"
     misc_feature    878..967
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /note="propagated from UniProtKB/Swiss-Prot (O00623.1);
                     transmembrane region"
     misc_feature    983..1099
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /note="propagated from UniProtKB/Swiss-Prot (O00623.1);
                     transmembrane region"
     misc_feature    1298..1381
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /note="propagated from UniProtKB/Swiss-Prot (O00623.1);
                     transmembrane region"
     regulatory      2596..2601
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /note="hexamer: AATAAA"
     polyA_site      2617
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /note="major polyA site"
ORIGIN
        1 gtcataaagc ggagacctcc cttcaaacgt ggcgtcgtgg gttgtttgcg cctcgcctgg
       61 ggtcagcgag caaggacggg cgcgggcggg gatactcaaa gccaacagct ggagtcagcc
      121 cttgtgtccc gggctcacag tggcacgact gaatcctcag agtcggctgg cttttgagct
      181 ctcacgattg gggaggaggg ggcgtttctg gttcgcagct ccagaggatt gcgttccttc
      241 ccccatacct gtcccccaca gtcacgctct gccctgacgt gcagcatttg acaagttacc
      301 ccctcgccac atactacttc cacccacgtc cgagttaact ttgttcttaa ccttcttgag
      361 actaccctcg gcctccaggt ctttttttcc cagttcattt ttgcccataa gattgagttt
      421 cgagtttcag atatcatgca gaaagtttac ctttaagact gagcacccat ctgatactct
      481 tcctcccgaa aaagttcatg ctcacgagag agtttgtggg aaaagtgaaa gccagtacac
      541 gcaggaaact atggctgagc acggggctca cttcacagct gcttctgtgg ccgatgacca
      601 gccatccatc tttgaggtgg tagcacagga cagtttaatg acagcagtga gacccgctct
      661 tcagcatgtg gtcaaggttc ttgcagaatc aaatcccacc cactatggct tcttgtggag
      721 gtggtttgat gaaatcttta ctctgctaga tcttctgctc cagcaacatt atctgtctag
      781 aaccagtgcc tcattttctg aaaactttta cggcttaaag agaattgtaa tgggggacac
      841 tcacaagtct cagagattgg ctagtgctgg tctcccaaag cagcagcttt ggaaatctat
      901 tatgttcctg gttcttcttc cctatctgaa agtgaagctg gagaagctgg tttctagcct
      961 gagagaagag gatgaatatt ctattcatcc cccttcttcc cgctggaaac gattttacag
     1021 agctttcctg gcagcctacc catttgtgaa catggcctgg gaaggatggt ttcttgtaca
     1081 acaacttcga tacatcctag gaaaagctca gcatcactca ccactgctga ggctggctgg
     1141 agttcagcta ggtcgactga cagttcagga tatacaagct ctggagcaca aaccagctaa
     1201 ggccagcatg atgcagcaac cagccaggag tgttagtgag aagataaact cagctctgaa
     1261 gaaagctgtt gggggtgttg ccttatccct gtctactggc ctttctgtgg gtgtattctt
     1321 cttgcagttc cttgactggt ggtactcatc tgaaaatcaa gaaaccatca agtcattgac
     1381 tgccctgcct actccaccac cacctgtaca cctagactat aactctgatt ctcccctctt
     1441 acccaaaatg aagactgtgt gcccactgtg tcgtaaaacc cgggtgaatg atactgttct
     1501 tgccacctct ggctatgtgt tttgttaccg ctgtgtgttt cattatgtga ggagtcacca
     1561 agcttgtccc atcacaggtt atccaacaga agtacaacat ctgattaaac tctactcccc
     1621 tgagaactga aagggaatca tgtcttatcc tcacaacaaa agtattgcgc tgtaatgtca
     1681 cagagctggt ttcagcatgg tattgagttg acacttctca gcctcaattc ataactatat
     1741 gaactttaaa tgattatatg gatttcttta aaaggatatg cccatttgat cctaaccttt
     1801 tagcctgctc tctagaaccc tacttacagt tgaccaagct gcttaaagta gaaggatcag
     1861 gactggcagg ggatatgagg gccagtgtag agattaaaca gaataatgag tacacaagtt
     1921 tttgcctatc cctttcctta aaatataaga aataaaggag ctcttacgaa aaacccaggt
     1981 tagaccgcat aaaaaataaa gtgaacagtg aggtggtagc aagacttctt tttagaaaag
     2041 aaagcattta cctgcctgtc tgtaaggtgg aaatttcatc agtttgcaaa cgataagaaa
     2101 tgcagacttg ctcttgatag aaatgcttag aaacactctg ggggggaaaa aagctccttc
     2161 catatactgt gagacatttg ttaagtgaca tctattgttt atcagctttt aaggataaaa
     2221 aaggtatttt aaaagttgga tatttaggat atttgaggat attcctttat gagctctcca
     2281 tatccttctt gagaaactgg ttaaaaaagg aataggggtt gagtgttaca gagagtagtc
     2341 tgaagattcc tgtgtaaaag caaagctaac aagcaatgaa gacatgaagc aaaatactaa
     2401 tctaattgtg taaagaaagg atattttaat aagttctttc tgcttgctgc taagagtttg
     2461 ctaaagtgtc atgaattatt ctggttatta ctaaagtttc tatgaaacac ttaagtagat
     2521 tttaagaata aatgtttctg gaaaagaact atgttatgat tttgtagaaa tgtaaagatt
     2581 acttgaggtg tttaaaataa atttttcatt cagacta
//
LOCUS       NM_000287               3444 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens peroxisomal biogenesis factor 6 (PEX6), transcript
            variant 1, mRNA.
ACCESSION   NM_000287
VERSION     NM_000287.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3444)
  AUTHORS   Galarreta CI, Wong K, Carmichael J, Woods J, Tise CG, Niehaus AD,
            Schildt AJ, Verscaj CP and Cusmano-Ozog KP.
  TITLE     A homozygous Gly470Ala variant in PEX6 causes severe Zellweger
            spectrum disorder
  JOURNAL   Am J Med Genet A 191 (8), 2057-2063 (2023)
   PUBMED   37144748
  REMARK    GeneRIF: A homozygous Gly470Ala variant in PEX6 causes severe
            Zellweger spectrum disorder.
REFERENCE   2  (bases 1 to 3444)
  AUTHORS   Daich Varela M, Jani P, Zein WM, D'Souza P, Wolfe L, Chisholm J,
            Zalewski C, Adams D, Warner BM, Huryn LA and Hufnagel RB.
  TITLE     The peroxisomal disorder spectrum and Heimler syndrome: Deep
            phenotyping and review of the literature
  JOURNAL   Am J Med Genet C Semin Med Genet 184 (3), 618-630 (2020)
   PUBMED   32866347
  REMARK    GeneRIF: The peroxisomal disorder spectrum and Heimler syndrome:
            Deep phenotyping and review of the literature.
REFERENCE   3  (bases 1 to 3444)
  AUTHORS   Garcia-Garcia G, Sanchez-Navarro I, Aller E, Jaijo T, Fuster-Garcia
            C, Rodriguez-Munoz A, Vallejo E, Telleria JJ, Vazquez S, Beltran S,
            Derdak S, Zurita O, Villaverde-Montero C, Avila-Fernandez A, Corton
            M, Blanco-Kelly F, Hakonarson H, Millan JM and Ayuso C.
  TITLE     Exome sequencing identifies PEX6 mutations in three cases diagnosed
            with Retinitis Pigmentosa and hearing impairment
  JOURNAL   Mol Vis 26, 216-225 (2020)
   PUBMED   32214787
  REMARK    GeneRIF: Exome sequencing identifies PEX6 mutations in three cases
            diagnosed with Retinitis Pigmentosa and hearing impairment.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3444)
  AUTHORS   Gao FJ, Hu FY, Xu P, Qi YH, Li JK, Zhang YJ, Chen F, Chang Q, Song
            F, Shen SM, Xu GZ and Wu JH.
  TITLE     Expanding the clinical and genetic spectrum of Heimler syndrome
  JOURNAL   Orphanet J Rare Dis 14 (1), 290 (2019)
   PUBMED   31831025
  REMARK    GeneRIF: There are no significant differences between PEX1-, PEX6-,
            and PEX26-associated phenotypes inclinical and genetic spectrum of
            Heimler syndrome. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3444)
  AUTHORS   Geisbrecht BV, Collins CS, Reuber BE and Gould SJ.
  TITLE     Disruption of a PEX1-PEX6 interaction is the most common cause of
            the neurologic disorders Zellweger syndrome, neonatal
            adrenoleukodystrophy, and infantile Refsum disease
  JOURNAL   Proc Natl Acad Sci U S A 95 (15), 8630-8635 (1998)
   PUBMED   9671729
REFERENCE   6  (bases 1 to 3444)
  AUTHORS   Tamura S, Shimozawa N, Suzuki Y, Tsukamoto T, Osumi T and Fujiki Y.
  TITLE     A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p
  JOURNAL   Biochem Biophys Res Commun 245 (3), 883-886 (1998)
   PUBMED   9588209
REFERENCE   7  (bases 1 to 3444)
  AUTHORS   Fukuda S, Shimozawa N, Suzuki Y, Zhang Z, Tomatsu S, Tsukamoto T,
            Hashiguchi N, Osumi T, Masuno M, Imaizumi K, Kuroki Y, Fujiki Y,
            Orii T and Kondo N.
  TITLE     Human peroxisome assembly factor-2 (PAF-2): a gene responsible for
            group C peroxisome biogenesis disorder in humans
  JOURNAL   Am J Hum Genet 59 (6), 1210-1220 (1996)
   PUBMED   8940266
REFERENCE   8  (bases 1 to 3444)
  AUTHORS   Yahraus T, Braverman N, Dodt G, Kalish JE, Morrell JC, Moser HW,
            Valle D and Gould SJ.
  TITLE     The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a
            cytoplasmic ATPase required for stability of the PTS1 receptor
  JOURNAL   EMBO J 15 (12), 2914-2923 (1996)
   PUBMED   8670792
REFERENCE   9  (bases 1 to 3444)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24501781
REFERENCE   10  (bases 1 to 3444)
  AUTHORS   Steinberg,S.J., Raymond,G.V., Braverman,N.E. and Moser,A.B.
  TITLE     Zellweger Spectrum Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301621
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.253258.1, BC033487.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000304611.13/ ENSP00000303511.8
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA462214.1, BC033487.1,
            BQ773648.1 and AL158815.14.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000287.3.
            Summary: This gene encodes a member of the AAA (ATPases associated
            with diverse cellular activities) family of ATPases. This member is
            a predominantly cytoplasmic protein, which plays a direct role in
            peroxisomal protein import and is required for PTS1 (peroxisomal
            targeting signal 1, a C-terminal tripeptide of the sequence
            ser-lys-leu) receptor activity. Mutations in this gene cause
            peroxisome biogenesis disorders of complementation group 4 and
            complementation group 6. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2015].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3444
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..3444
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /note="peroxisomal biogenesis factor 6"
                     /db_xref="GeneID:5190"
                     /db_xref="HGNC:HGNC:8859"
                     /db_xref="MIM:601498"
     CDS             32..2974
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     peroxisome assembly factor 2; peroxisomal AAA-type ATPase
                     1; peroxin-6; peroxisomal-type ATPase 1; peroxisomal ATPase
                     PEX6"
                     /codon_start=1
                     /product="peroxisome biogenesis factor 6 isoform 1"
                     /protein_id="NP_000278.3"
                     /db_xref="CCDS:CCDS4877.1"
                     /db_xref="GeneID:5190"
                     /db_xref="HGNC:HGNC:8859"
                     /db_xref="MIM:601498"
                     /translation="MALAVLRVLEPFPTETPPLAVLLPPGGPWPAAELGLVLALRPAGE
                     SPAGPALLVAALEGPDAGTEEQGPGPPQLLVSRALLRLLALGSGAWVRARAVRRPPALG
                     WALLGTSLGPGLGPRVGPLLVRRGETLPVPGPRVLETRPALQGLLGPGTRLAVTELRGR
                     ARLCPESGDSSRPPPPPVVSSFAVSGTVRRLQGVLGGTGDSLGVSRSCLRGLGLFQGEW
                     VWVAQARESSNTSQPHLARVQVLEPRWDLSDRLGPGSGPLGEPLADGLALVPATLAFNL
                     GCDPLEMGELRIQRYLEGSIAPEDKGSCSLLPGPPFARELHIEIVSSPHYSTNGNYDGV
                     LYRHFQIPRVVQEGDVLCVPTIGQVEILEGSPEKLPRWREMFFKVKKTVGEAPDGPASA
                     YLADTTHTSLYMVGSTLSPVPWLPSEESTLWSSLSPPGLEALVSELCAVLKPRLQPGGA
                     LLTGTSSVLLRGPPGCGKTTVVAAACSHLGLHLLKVPCSSLCAESSGAVETKLQAIFSR
                     ARRCRPAVLLLTAVDLLGRDRDGLGEDARVMAVLRHLLLNEDPLNSCPPLMVVATTSRA
                     QDLPADVQTAFPHELEVPALSEGQRLSILRALTAHLPLGQEVNLAQLARRCAGFVVGDL
                     YALLTHSSRAACTRIKNSGLAGGLTEEDEGELCAAGFPLLAEDFGQALEQLQTAHSQAV
                     GAPKIPSVSWHDVGGLQEVKKEILETIQLPLEHPELLSLGLRRSGLLLHGPPGTGKTLL
                     AKAVATECSLTFLSVKGPELINMYVGQSEENVREVFARARAAAPCIIFFDELDSLAPSR
                     GRSGDSGGVMDRVVSQLLAELDGLHSTQDVFVIGATNRPDLLDPALLRPGRFDKLVFVG
                     ANEDRASQLRVLSAITRKFKLEPSVSLVNVLDCCPPQLTGADLYSLCSDAMTAALKRRV
                     HDLEEGLEPGSSALMLTMEDLLQAAARLQPSVSEQELLRYKRIQRKFAAC"
     misc_feature    386..388
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q13608.2); methylation site"
     regulatory      3279..3284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /note="hexamer: AATAAA"
     polyA_site      3301
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /note="major polyA site"
     regulatory      3414..3419
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /note="hexamer: AATAAA"
     polyA_site      3444
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /note="major polyA site"
ORIGIN
        1 ccttcaccct cctcgttggt gtcctgtcac catggcgctg gctgtcttgc gggtcctgga
       61 gccctttccg accgagacac ccccgttggc agtgctgctg ccacccgggg gcccgtggcc
      121 ggcggcggag ctgggcctgg tgctggccct gaggcctgca ggggagagcc cggcagggcc
      181 ggcgctgctg gtggcagccc tggaggggcc ggacgcgggc accgaagagc agggtcccgg
      241 gccgccgcag ctactggtta gccgcgcgct gctgcggctc ctggcactgg gctccggggc
      301 ctgggtgcgg gcgcgggcgg tgcggcggcc cccggcgcta ggttgggcac tgcttggcac
      361 ctcgctgggg cctgggctcg gaccgcgagt cgggccgctg ctggtgaggc gcggagagac
      421 cctcccagtg cccggaccgc gggtgctgga gacgcggccg gcgttgcaag ggctgctggg
      481 cccagggact cggctggctg tgactgagct ccgcgggcgg gccagactgt gtccagagtc
      541 tggggacagc agtcggcccc cacccccgcc cgtggtgtcc tcctttgcgg tttctggcac
      601 agtgcggcga ctccagggag ttctgggagg gactggagat tcactagggg tgagccggag
      661 ctgtctccgt ggccttggcc tcttccaggg cgaatgggtg tgggtggccc aggccagaga
      721 gtcatcgaac acttcacagc cgcacttggc tagggtgcag gtcctagaac ctcgctggga
      781 cctctctgat agactgggac ccggctctgg accgctggga gagcccctcg ctgacggact
      841 ggcgcttgtc cctgccactt tggcttttaa tcttggctgt gaccccctgg aaatgggaga
      901 gctcagaatt cagaggtact tggaaggctc catcgcccct gaagacaaag gaagctgctc
      961 attgctgcct gggcctccat ttgccagaga gttacacatc gaaattgtgt cttctcccca
     1021 ctacagcact aatggaaatt atgacggtgt tctttaccgg cactttcaga tacccagggt
     1081 agtccaggaa ggggatgttc tatgtgtgcc aacaattggg caagtagaga tcctggaagg
     1141 aagtccagag aaactgccca ggtggcggga aatgtttttt aaagtgaaga aaacagttgg
     1201 ggaagctcca gatggaccag ccagtgccta cttggccgac accacccata cctccttgta
     1261 catggtgggt tctaccctga gccctgttcc atggctccct tcagaggaat ccactctctg
     1321 gagcagtttg tctcctccag gcctggaggc cttggtgtct gaactctgtg ctgtcctgaa
     1381 gcctcgcctc cagccagggg gtgccctgct gacaggaact agcagtgtcc ttctacgggg
     1441 ccccccaggc tgtgggaaga ccacagtagt tgctgctgcc tgtagtcacc ttgggctcca
     1501 cttactgaag gtgccctgct ccagcctctg tgcagaaagt agtggggctg tggagacaaa
     1561 actgcaggcc atcttctccc gggcccgccg ttgccggcct gcagtcctgt tgctcacagc
     1621 tgtggacctt ctgggccggg accgtgatgg gctgggtgag gatgcccgtg tgatggctgt
     1681 gctgcgtcac ctcctcctca atgaggaccc cctcaacagc tgccctcccc tcatggttgt
     1741 ggccaccaca agccgggccc aggacctgcc tgctgatgtg cagacagcat ttcctcatga
     1801 gctcgaggtg cctgctctgt cagaggggca gcggctcagc atcctgcggg ccctcactgc
     1861 ccaccttccc ctgggccagg aggtgaactt ggcacagcta gcacggcggt gtgcaggctt
     1921 tgtggtaggg gatctctatg cccttctgac ccacagcagc cgggcagcct gcaccaggat
     1981 caagaactca ggtttggcag gtggcttgac tgaggaggat gagggggagc tgtgtgctgc
     2041 cggctttcct ctcctggctg aggactttgg gcaggcactg gagcaactgc agacagctca
     2101 ctcccaggcc gttggagccc ccaagatccc ctcagtgtcc tggcatgatg tgggtgggct
     2161 gcaggaggtg aagaaggaga tcctggagac cattcagctc cccctggagc accctgagct
     2221 actgagcctg ggcctgagac gctcaggcct tctgctccat gggccccctg gcaccggcaa
     2281 gacccttctg gccaaggcag tagccactga gtgcagcctt accttcctca gcgtgaaggg
     2341 gccagagctc attaacatgt atgtgggcca aagtgaggag aatgtgcggg aagtgtttgc
     2401 cagggccagg gctgcagctc catgcattat cttctttgat gaactggact ctttggcccc
     2461 aagccggggg cgaagtggag attctggagg agtgatggac agggtggtgt ctcagctcct
     2521 tgccgagcta gatgggctgc acagcactca ggatgtgttt gtgattggag ccaccaacag
     2581 accagatctc ctggaccctg cccttctgcg gcctggcaga tttgacaagc tggtgtttgt
     2641 gggggcaaat gaggaccggg cctcccagct acgcgttcta agtgccatca cacgcaaatt
     2701 caagctagag ccatctgtga gcctggtaaa cgtgctagat tgctgccctc cccagctgac
     2761 gggcgcggac ctctactctc tctgctctga tgctatgaca gctgccctca aacgcagggt
     2821 tcatgacctg gaggaagggc tggagccagg tagctcagca ctgatgctca ccatggagga
     2881 cttgctgcag gctgccgccc ggctgcaacc ctcagtcagt gagcaggagc tgctccggta
     2941 caagcgcatc cagcgcaagt ttgctgcctg ctaggagccc cccagggtct gggaccccgc
     3001 tcagcatggc tgcaggtacc ttgatagccc acagagagat ctgggaagga agggctcctc
     3061 ctcaggctgc tgccaaccca cctggaggcc acctccctcc aggagatccc agggtgcaaa
     3121 gtggcattga gacagcagca acagctcaag agatatctcc tgcctacttg cccctccttc
     3181 caggccggct ctaagagaaa ggcccatcta ctcaggaaga gggccagggc cttgggttct
     3241 ggggattggg ccctgagagg gctagttctg tggctgaaaa taaagcatgt cccgccccct
     3301 actggtgttg tggcatgaaa ggttggagtg agaaagagca gggttgtggg aggagtaagc
     3361 cctgggagag ggtggggggg tgggcagcat gggagcctga tccttctgac ataaataaac
     3421 acaatgcatg caggaactga aaaa
//
LOCUS       NM_000288               1454 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens peroxisomal biogenesis factor 7 (PEX7), transcript
            variant 1, mRNA.
ACCESSION   NM_000288
VERSION     NM_000288.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1454)
  AUTHORS   Masih S, Moirangthem A and Phadke SR.
  TITLE     Twins with PEX7 related intellectual disability and cataract:
            Highlighting phenotypes of peroxisome biogenesis disorder 9B
  JOURNAL   Am J Med Genet A 185 (5), 1504-1508 (2021)
   PUBMED   33586206
  REMARK    GeneRIF: Twins with PEX7 related intellectual disability and
            cataract: Highlighting phenotypes of peroxisome biogenesis disorder
            9B.
REFERENCE   2  (bases 1 to 1454)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1454)
  AUTHORS   Niwa H, Miyauchi-Nanri Y, Okumoto K, Mukai S, Noi K, Ogura T and
            Fujiki Y.
  TITLE     A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a
            novel dynein-type AAA+ protein
  JOURNAL   J Biochem 164 (6), 437-447 (2018)
   PUBMED   30204880
  REMARK    GeneRIF: Data suggest that P7BP2 is localized to peroxisomes by
            binding to PEX5 via PEX7 in manner dependent on apparent PTS2 (type
            2 peroxisomal targeting signal peptide) in N-terminal region of
            P7BP2; the PTS2 is subsequently cleaved off in peroxisomes. (P7BP2 =
            PEX7-binding protein-2; PEX5 = peroxisomal biogenesis factor-5; PEX7
            = peroxisomal biogenesis factor-7)
REFERENCE   4  (bases 1 to 1454)
  AUTHORS   Klouwer FC, Koster J, Ferdinandusse S and Waterham HR.
  TITLE     Peroxisomal abnormalities in the immortalized human hepatocyte (IHH)
            cell line
  JOURNAL   Histochem Cell Biol 147 (4), 537-541 (2017)
   PUBMED   28013369
  REMARK    GeneRIF: This revealed a marked plasmalogen deficiency and a
            deficient fatty acid alpha-oxidation in the IHH cells, due to a
            defect of PEX7, a cytosolic receptor protein required for
            peroxisomal import of a subset of peroxisomal proteins.
REFERENCE   5  (bases 1 to 1454)
  AUTHORS   Purdue PE, Zhang JW, Skoneczny M and Lazarow PB.
  TITLE     Rhizomelic chondrodysplasia punctata is caused by deficiency of
            human PEX7, a homologue of the yeast PTS2 receptor
  JOURNAL   Nat Genet 15 (4), 381-384 (1997)
   PUBMED   9090383
REFERENCE   6  (bases 1 to 1454)
  AUTHORS   Motley AM, Hettema EH, Hogenhout EM, Brites P, ten Asbroek AL,
            Wijburg FA, Baas F, Heijmans HS, Tabak HF, Wanders RJ and Distel B.
  TITLE     Rhizomelic chondrodysplasia punctata is a peroxisomal protein
            targeting disease caused by a non-functional PTS2 receptor
  JOURNAL   Nat Genet 15 (4), 377-380 (1997)
   PUBMED   9090382
REFERENCE   7  (bases 1 to 1454)
  AUTHORS   Braverman N, Steel G, Obie C, Moser A, Moser H, Gould SJ and Valle
            D.
  TITLE     Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible
            for rhizomelic chondrodysplasia punctata
  JOURNAL   Nat Genet 15 (4), 369-376 (1997)
   PUBMED   9090381
REFERENCE   8  (bases 1 to 1454)
  AUTHORS   Waterham,H.R., Wanders,R.J.A. and Leroy,B.P.
  TITLE     Adult Refsum Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301527
REFERENCE   9  (bases 1 to 1454)
  AUTHORS   Braverman,N.E., Steinberg,S.J., Fallatah,W., Duker,A. and Bober,M.B.
  TITLE     Rhizomelic Chondrodysplasia Punctata Type 1
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301447
REFERENCE   10  (bases 1 to 1454)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301317
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279826.6424.1, U88871.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000318471.5/ ENSP00000315680.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP246238.1, U76560.1 and
            BQ011494.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000288.3.
            Summary: This gene encodes the cytosolic receptor for the set of
            peroxisomal matrix enzymes targeted to the organelle by the
            peroxisome targeting signal 2 (PTS2). Defects in this gene cause
            peroxisome biogenesis disorders (PBDs), which are characterized by
            multiple defects in peroxisome function. There are at least 14
            complementation groups for PBDs, with more than one phenotype being
            observed in cases falling into particular complementation groups.
            Although the clinical features of PBD patients vary, cells from all
            PBD patients exhibit a defect in the import of one or more classes
            of peroxisomal matrix proteins into the organelle. Defects in this
            gene have been associated with PBD complementation group 11
            (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1
            (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1454
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.3"
     gene            1..1454
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /note="peroxisomal biogenesis factor 7"
                     /db_xref="GeneID:5191"
                     /db_xref="HGNC:HGNC:8860"
                     /db_xref="MIM:601757"
     CDS             75..1046
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /note="isoform 1 is encoded by transcript variant 1;
                     peroxin-7; peroxisomal targeting signal 2 receptor;
                     peroxisome targeting signal 2 receptor; peroxisomal PTS2
                     receptor"
                     /codon_start=1
                     /product="peroxisomal biogenesis factor 7 isoform 1"
                     /protein_id="NP_000279.1"
                     /db_xref="CCDS:CCDS5180.1"
                     /db_xref="GeneID:5191"
                     /db_xref="HGNC:HGNC:8860"
                     /db_xref="MIM:601757"
                     /translation="MSAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAGC
                     GTLLILDPDEAGLRLFRSFDWNDGLFDVTWSENNEHVLITCSGDGSLQLWDTAKAAGPL
                     QVYKEHAQEVYSVDWSQTRGEQLVVSGSWDQTVKLWDPTVGKSLCTFRGHESIIYSTIW
                     SPHIPGCFASASGDQTLRIWDVKAAGVRIVIPAHQAEILSCDWCKYNENLLVTGAVDCS
                     LRGWDLRNVRQPVFELLGHTYAIRRVKFSPFHASVLASCSYDFTVRFWNFSKPDSLLET
                     VEHHTEFTCGLDFSLQSPTQVADCSWDETIKIYDPACLTIPA"
     misc_feature    267..362
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /note="propagated from UniProtKB/Swiss-Prot (O00628.1);
                     Region: WD 1"
     misc_feature    399..497
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /note="propagated from UniProtKB/Swiss-Prot (O00628.1);
                     Region: WD 2"
     misc_feature    531..626
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /note="propagated from UniProtKB/Swiss-Prot (O00628.1);
                     Region: WD 3"
     misc_feature    660..755
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /note="propagated from UniProtKB/Swiss-Prot (O00628.1);
                     Region: WD 4"
     misc_feature    792..887
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /note="propagated from UniProtKB/Swiss-Prot (O00628.1);
                     Region: WD 5"
     misc_feature    924..1019
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /note="propagated from UniProtKB/Swiss-Prot (O00628.1);
                     Region: WD 6"
     regulatory      1423..1428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /note="hexamer: AATAAA"
     polyA_site      1454
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /note="major polyA site"
ORIGIN
        1 aaccgcgcca gtgtgcctcc gactcggaac ggcttccgcg gccggggcag cgagggccgg
       61 gggcggcggg cgggatgagt gcggtgtgcg gtggagcggc gcggatgctg cggacgccgg
      121 gacgccacgg ctacgccgcc gagttctccc cgtacctgcc gggccgcctg gcctgcgcca
      181 ccgcgcagca ctacggcatc gcgggctgtg gaaccctact aatattggat ccagatgaag
      241 ctgggctaag gctttttaga agctttgact ggaatgatgg tttgtttgat gtgacttgga
      301 gtgagaacaa cgaacatgtc ctcatcacct gtagtggcga tggctcgctg cagctctggg
      361 acactgccaa agctgcaggg ccactgcaag tctataaaga acacgctcag gaggtgtata
      421 gtgttgattg gagccaaacc agaggtgaac agcttgtggt gtctggctca tgggatcaaa
      481 ctgtcaaatt gtgggatcca actgttggaa agtctctgtg cacctttaga ggccatgaaa
      541 gtattattta tagcacaatc tggtctcccc acatccctgg ttgttttgct tcagcctcag
      601 gtgatcagac tctgagaata tgggatgtga aggcagcagg agtaagaatc gtgattcctg
      661 cacatcaggc agaaatcttg agttgtgact ggtgtaaata caatgagaat ttgctggtga
      721 ccggggcggt tgactgtagt ttgagaggct gggacttaag gaatgtacga caaccagtgt
      781 ttgaacttct tggtcatacc tatgctatta ggagggtgaa attttcacca tttcatgctt
      841 ctgtgctggc ctcttgctcg tatgatttta ctgtaagatt ctggaacttt tcaaagcctg
      901 actctcttct tgaaacagtg gagcatcata cagagtttac ttgtggttta gacttcagtc
      961 ttcagagccc cactcaggtg gctgactgtt cttgggatga aacaataaag atctatgacc
     1021 ctgcttgtct tactattcct gcttgagata cactactttg gtcagaaaca gaggatgttg
     1081 gctgaagaac tgcctaacag caaataaatt aactatggaa aacatagaca ttatgctttt
     1141 atatgctatt cagatttcaa atctttccaa tttaccctgg aatcagtttt gagggagctg
     1201 ataaagactt tagctgactc gttaagcctg atacataagc catatttaaa attctaagaa
     1261 ataattaatg ttatgatata tcttgtagta tctattaaaa tgtctctggg tcataaaatg
     1321 gattaaaata tgggagatca gtaggttata cttatataga tagtgatata tttcattttt
     1381 aatttgtcat ttttgatgta aaatataatc actgctgtga taaataaact atctattgat
     1441 catttatcat ttta
//
LOCUS       NM_000289               3090 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant
            4, mRNA.
ACCESSION   NM_000289
VERSION     NM_000289.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3090)
  AUTHORS   Voronkova MA, Hansen HL, Cooper MP, Miller J, Sukumar N, Geldenhuys
            WJ, Robart AR and Webb BA.
  TITLE     Cancer-associated somatic mutations in human phosphofructokinase-1
            reveal a critical electrostatic interaction for allosteric
            regulation of enzyme activity
  JOURNAL   Biochem J 480 (17), 1411-1427 (2023)
   PUBMED   37622331
  REMARK    GeneRIF: Cancer-associated somatic mutations in human
            phosphofructokinase-1 reveal a critical electrostatic interaction
            for allosteric regulation of enzyme activity.
REFERENCE   2  (bases 1 to 3090)
  AUTHORS   Kobayashi H, Takase S, Nishimura H, Matsumoto K, Harada H and
            Yoshida M.
  TITLE     RNAi screening reveals a synthetic chemical-genetic interaction
            between ATP synthase and PFK1 in cancer cells
  JOURNAL   Cancer Sci 114 (4), 1663-1671 (2023)
   PUBMED   36601784
  REMARK    GeneRIF: RNAi screening reveals a synthetic chemical-genetic
            interaction between ATP synthase and PFK1 in cancer cells.
REFERENCE   3  (bases 1 to 3090)
  AUTHORS   Xu S, Cheuk YC, Jia Y, Chen T, Chen J, Luo Y, Cao Y, Guo J, Dong L,
            Zhang Y, Shi Y and Rong R.
  TITLE     Bone marrow mesenchymal stem cell-derived exosomal miR-21a-5p
            alleviates renal fibrosis by attenuating glycolysis by targeting
            PFKM
  JOURNAL   Cell Death Dis 13 (10), 876 (2022)
   PUBMED   36253358
  REMARK    GeneRIF: Bone marrow mesenchymal stem cell-derived exosomal
            miR-21a-5p alleviates renal fibrosis by attenuating glycolysis by
            targeting PFKM. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3090)
  AUTHORS   Yamada S, Nakajima H and Kuehn MR.
  TITLE     Novel testis- and embryo-specific isoforms of the
            phosphofructokinase-1 muscle type gene
  JOURNAL   Biochem Biophys Res Commun 316 (2), 580-587 (2004)
   PUBMED   15020257
  REMARK    GeneRIF: Identification of novel PFK-M transcripts in the testis and
            embryo.
REFERENCE   5  (bases 1 to 3090)
  AUTHORS   Howard TD, Akots G and Bowden DW.
  TITLE     Physical and genetic mapping of the muscle phosphofructokinase gene
            (PFKM): reassignment to human chromosome 12q
  JOURNAL   Genomics 34 (1), 122-127 (1996)
   PUBMED   8661033
REFERENCE   6  (bases 1 to 3090)
  AUTHORS   Vasconcelos O, Sivakumar K, Dalakas MC, Quezado M, Nagle J,
            Leon-Monzon M, Dubnick M, Gajdusek DC and Goldfarb LG.
  TITLE     Nonsense mutation in the phosphofructokinase muscle subunit gene
            associated with retention of intron 10 in one of the isolated
            transcripts in Ashkenazi Jewish patients with Tarui disease
  JOURNAL   Proc Natl Acad Sci U S A 92 (22), 10322-10326 (1995)
   PUBMED   7479776
REFERENCE   7  (bases 1 to 3090)
  AUTHORS   Yamasaki T, Nakajima H, Kono N, Hotta K, Yamada K, Imai E, Kuwajima
            M, Noguchi T, Tanaka T and Tarui S.
  TITLE     Structure of the entire human muscle phosphofructokinase-encoding
            gene: a two-promoter system
  JOURNAL   Gene 104 (2), 277-282 (1991)
   PUBMED   1833270
REFERENCE   8  (bases 1 to 3090)
  AUTHORS   Sharma PM, Reddy GR, Babior BM and McLachlan A.
  TITLE     Alternative splicing of the transcript encoding the human muscle
            isoenzyme of phosphofructokinase
  JOURNAL   J Biol Chem 265 (16), 9006-9010 (1990)
   PUBMED   2140567
REFERENCE   9  (bases 1 to 3090)
  AUTHORS   Kahn,A., Meienhofer,M.C., Cottreau,D., Lagrange,J.L. and
            Dreyfus,J.C.
  TITLE     Phosphofructokinase (PFK) isozymes in man. I. Studies of adult human
            tissues
  JOURNAL   Hum Genet 48 (1), 93-108 (1979)
   PUBMED   156693
REFERENCE   10  (bases 1 to 3090)
  AUTHORS   Kahn,A., Etiemble,J., Meienhofer,M.C. and Bovin,P.
  TITLE     Erythrocyte phosphofructokinase deficiency associated with an
            unstable variant of muscle phosphofructokinase
  JOURNAL   Clin Chim Acta 61 (3), 415-419 (1975)
   PUBMED   125160
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.163458.1,
            SRR1660805.57430.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000359794.11/ ENSP00000352842.5
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA525437.1, BC021203.2,
            BC000534.2 and BU683561.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 6, 2018 this sequence version replaced NM_000289.5.
            Summary: Three phosphofructokinase isozymes exist in humans:
            muscle, liver and platelet. These isozymes function as subunits of
            the mammalian tetramer phosphofructokinase, which catalyzes the
            phosphorylation of fructose-6-phosphate to
            fructose-1,6-bisphosphate. Tetramer composition varies depending on
            tissue type. This gene encodes the muscle-type isozyme. Mutations
            in this gene have been associated with glycogen storage disease
            type VII, also known as Tarui disease. Alternatively spliced
            transcript variants have been described.[provided by RefSeq, Nov
            2009].
            Transcript Variant: This variant (4, also known as type C) differs
            in the 5' UTR, lacks a portion of the 5' coding region, and
            initiates translation at a downstream start codon, compared to
            variant 1. The encoded isoform (2) is shorter than isoform 1.
            Variants 2, 3, 4, 12, 13, and 14 encode the same isoform (2).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3090
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.11"
     gene            1..3090
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="phosphofructokinase, muscle"
                     /db_xref="GeneID:5213"
                     /db_xref="HGNC:HGNC:8877"
                     /db_xref="MIM:610681"
     CDS             52..2394
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /EC_number="2.7.1.11"
                     /note="isoform 2 is encoded by transcript variant 4;
                     phosphofructokinase, polypeptide X; 6-phosphofructokinase,
                     muscle type; phosphofructo-1-kinase isozyme A;
                     phosphohexokinase; 6-phosphofructo-1-kinase;
                     phosphofructokinase 1; 6-phosphofructokinase type A;
                     ATP-dependent 6-phosphofructokinase, muscle type;
                     phosphofructokinase-M; protein phosphatase 1, regulatory
                     subunit 122"
                     /codon_start=1
                     /product="ATP-dependent 6-phosphofructokinase, muscle type
                     isoform 2"
                     /protein_id="NP_000280.1"
                     /db_xref="CCDS:CCDS8760.1"
                     /db_xref="GeneID:5213"
                     /db_xref="HGNC:HGNC:8877"
                     /db_xref="MIM:610681"
                     /translation="MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTG
                     ARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYN
                     LVKRGITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKAGKITDEEATKSSYLNIVGLVG
                     SIDNDFCGTDMTIGTDSALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLS
                     CGADWVFIPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKN
                     LVVKRLGYDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSG
                     NQAVRLPLMECVQVTKDVTKAMDEKKFDEALKLRGRSFMNNWEVYKLLAHVRPPVSKSG
                     SHTVAVMNVGAPAAGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGG
                     WTGQGGSKLGTKRTLPKKSFEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDE
                     LCIPFVVIPATVSNNVPGSDFSVGADTALNTICTTCDRIKQSAAGTKRRVFIIETMGGY
                     CGYLATMAGLAAGADAAYIFEEPFTIRDLQANVEHLVQKMKTTVKRGLVLRNEKCNENY
                     TTDFIFNLYSEEGKGIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKES
                     YRNGRIFANTPDSGCVLGMRKRALVFQPVAELKDQTDFEHRIPKEQWWLKLRPILKILA
                     KYEIDLDTSDHAHLEHITRKRSGEAAV"
     misc_feature    55..1221
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="propagated from UniProtKB/Swiss-Prot (P08237.2);
                     Region: N-terminal catalytic PFK domain 1"
     misc_feature    55..57
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="N-acetylthreonine.
                     /evidence=ECO:0000250|UniProtKB:P00511; propagated from
                     UniProtKB/Swiss-Prot (P08237.2); acetylation site"
     misc_feature    448..450
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P47858; propagated from
                     UniProtKB/Swiss-Prot (P08237.2); phosphorylation site"
     misc_feature    1180..1182
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P47857; propagated from
                     UniProtKB/Swiss-Prot (P08237.2); phosphorylation site"
     misc_feature    1222..1254
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="propagated from UniProtKB/Swiss-Prot (P08237.2);
                     Region: Interdomain linker"
     misc_feature    1255..2391
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="propagated from UniProtKB/Swiss-Prot (P08237.2);
                     Region: C-terminal regulatory PFK domain 2"
     misc_feature    1639..1641
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="O-linked (GlcNAc) serine. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P08237.2);
                     glycosylation site"
     misc_feature    2050..2052
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P08237.2); phosphorylation site"
     misc_feature    2374..2376
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P00511; propagated from
                     UniProtKB/Swiss-Prot (P08237.2); phosphorylation site"
     regulatory      2767..2772
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="hexamer: AATAAA"
     polyA_site      2790
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="major polyA site"
     regulatory      3071..3076
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="hexamer: AATAAA"
     polyA_site      3090
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
ORIGIN
        1 aatctgcaag aaagcagcgg cggaggagag ctaagactaa aagagtggat catgacccat
       61 gaagagcacc atgcagccaa aaccctgggg attggcaaag ccattgctgt cttaacctct
      121 ggtggagatg cccaaggtat gaatgctgct gtcagggctg tggttcgagt tggtatcttc
      181 accggtgccc gtgtcttctt tgtccatgag ggttatcaag gcctggtgga tggtggagat
      241 cacatcaagg aagccacctg ggagagcgtt tcgatgatgc ttcagctggg aggcacggtg
      301 attggaagtg cccggtgcaa ggactttcgg gaacgagaag gacgactccg agctgcctac
      361 aacctggtga agcgtgggat caccaatctc tgtgtcattg ggggtgatgg cagcctcact
      421 ggggctgaca ccttccgttc tgagtggagt gacttgttga gtgacctcca gaaagcaggt
      481 aagatcacag atgaggaggc tacgaagtcc agctacctga acattgtggg cctggttggg
      541 tcaattgaca atgacttctg tggcaccgat atgaccattg gcactgactc tgccctgcat
      601 cggatcatgg aaattgtaga tgccatcact accactgccc agagccacca gaggacattt
      661 gtgttagaag taatgggccg ccactgtgga tacctggccc ttgtcacctc tctgtcctgt
      721 ggggccgact gggtttttat tcctgaatgt ccaccagatg acgactggga ggaacacctt
      781 tgtcgccgac tcagcgagac aaggacccgt ggttctcgtc tcaacatcat cattgtggct
      841 gagggtgcaa ttgacaagaa tggaaaacca atcacctcag aagacatcaa gaatctggtg
      901 gttaagcgtc tgggatatga cacccgggtt actgtcttgg ggcatgtgca gaggggtggg
      961 acgccatcag cctttgacag aattctgggc agcaggatgg gtgtggaagc agtgatggca
     1021 cttttggagg ggaccccaga taccccagcc tgtgtagtga gcctctctgg taaccaggct
     1081 gtgcgcctgc ccctcatgga atgtgtccag gtgaccaaag atgtgaccaa ggccatggat
     1141 gagaagaaat ttgacgaagc cctgaagctg agaggccgga gcttcatgaa caactgggag
     1201 gtgtacaagc ttctagctca tgtcagaccc ccggtatcta agagtggttc gcacacagtg
     1261 gctgtgatga acgtgggggc tccggctgca ggcatgaatg ctgctgttcg ctccactgtg
     1321 aggattggcc ttatccaggg caaccgagtg ctcgttgtcc atgatggttt cgagggcctg
     1381 gccaaggggc agatagagga agctggctgg agctatgttg ggggctggac tggccaaggt
     1441 ggctctaaac ttgggactaa aaggactcta cccaagaaga gctttgaaca gatcagtgcc
     1501 aatataacta agtttaacat tcagggcctt gtcatcattg ggggctttga ggcttacaca
     1561 gggggcctgg aactgatgga gggcaggaag cagtttgatg agctctgcat cccatttgtg
     1621 gtcattcctg ctacagtctc caacaatgtc cctggctcag acttcagcgt tggggctgac
     1681 acagcactca atactatctg cacaacctgt gaccgcatca agcagtcagc agctggcacc
     1741 aagcgtcggg tgtttatcat tgagactatg ggtggctact gtggctacct ggctaccatg
     1801 gctggactgg cagctggggc cgatgctgcc tacatttttg aggagccctt caccattcga
     1861 gacctgcagg caaatgttga acatctggtg caaaagatga aaacaactgt gaaaaggggc
     1921 ttggtgttaa ggaatgaaaa gtgcaatgag aactatacca ctgacttcat tttcaacctg
     1981 tactctgagg aggggaaggg catcttcgac agcaggaaga atgtgcttgg tcacatgcag
     2041 cagggtggga gcccaacccc atttgatagg aattttgcca ctaagatggg cgccaaggct
     2101 atgaactgga tgtctgggaa aatcaaagag agttaccgta atgggcggat ctttgccaat
     2161 actccagatt cgggctgtgt tctggggatg cgtaagaggg ctctggtctt ccaaccagtg
     2221 gctgagctga aggaccagac agattttgag catcgaatcc ccaaggaaca gtggtggctg
     2281 aaactgaggc ccatcctcaa aatcctagcc aagtacgaga ttgacttgga cacttcagac
     2341 catgcccacc tggagcacat cacccggaag cggtccgggg aagctgccgt ctaaacctct
     2401 ctggagtgag gggaatagat tacctgatca tggtcagctc acaccctaat aagtccacat
     2461 cttctcagtg ttttagctgt ttttttcatt aggtttcctt ttattctgta ccttgcagcc
     2521 atgaccagtt ctggccagga gctggaggag caggcagtgg gtgggagctc cttttaggta
     2581 gaatttaaca tgacttctgc cccagcttta tctgtcacac aaggctgggc acctctagtg
     2641 ctactgctag atatcactta ctcagttaga attttcctaa aaataagctt tatttatttc
     2701 tttgtgataa caaagagtct tggttcctct actactttta ctacagtgac aaattgtaac
     2761 tacactaata aatgccaact ggtcactgtg cttttgcttc tcctgttatc atcttcctaa
     2821 gtggaatgta atactgtcag ccccatgtat cagacacttg tctgatgaag cagtaaagac
     2881 gttaagggta tcacaggggg tggaggaagg gattatctct agtacactac ttgctggctg
     2941 tctgaaaaat tgtcactgcc aaactctaaa aacagttcta aatagtgact gagaaggttt
     3001 gttgctggag tcagggaata aggcagccaa atactctttg cacagttctt tagtgggaag
     3061 agaaattaac aataaatatc aagcactgtg
//
LOCUS       NM_000290                837 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens phosphoglycerate mutase 2 (PGAM2), mRNA.
ACCESSION   NM_000290
VERSION     NM_000290.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 837)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 837)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (bases 1 to 837)
  AUTHORS   Xu Y, Li F, Lv L, Li T, Zhou X, Deng CX, Guan KL, Lei QY and Xiong
            Y.
  TITLE     Oxidative stress activates SIRT2 to deacetylate and stimulate
            phosphoglycerate mutase
  JOURNAL   Cancer Res 74 (13), 3630-3642 (2014)
   PUBMED   24786789
  REMARK    GeneRIF: These results reveal a mechanism of PGAM2 regulation and
            NADPH homeostasis in response to oxidative stress that impacts cell
            proliferation and tumor growth.
REFERENCE   4  (bases 1 to 837)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   5  (bases 1 to 837)
  AUTHORS   Hadjigeorgiou GM, Kawashima N, Bruno C, Andreu AL, Sue CM, Rigden
            DJ, Kawashima A, Shanske S and DiMauro S.
  TITLE     Manifesting heterozygotes in a Japanese family with a novel mutation
            in the muscle-specific phosphoglycerate mutase (PGAM-M) gene
  JOURNAL   Neuromuscul Disord 9 (6-7), 399-402 (1999)
   PUBMED   10545043
REFERENCE   6  (bases 1 to 837)
  AUTHORS   Castella-Escola J, Ojcius DM, LeBoulch P, Joulin V, Blouquit Y,
            Garel MC, Valentin C, Rosa R, Climent-Romeo F and Cohen-Solal M.
  TITLE     Isolation and characterization of the gene encoding the
            muscle-specific isozyme of human phosphoglycerate mutase
  JOURNAL   Gene 91 (2), 225-232 (1990)
   PUBMED   2145198
REFERENCE   7  (bases 1 to 837)
  AUTHORS   Castella-Escola J, Mattei MG, Ojcius DM, Passage E, Valentin C and
            Cohen-Solal M.
  TITLE     In situ mapping of the muscle-specific form of phosphoglycerate
            mutase gene to human chromosome 7p12-7p13
  JOURNAL   Hum Genet 84 (2), 210-212 (1990)
   PUBMED   2153628
REFERENCE   8  (bases 1 to 837)
  AUTHORS   Tsujino S, Sakoda S, Mizuno R, Kobayashi T, Suzuki T, Kishimoto S,
            Shanske S, DiMauro S and Schon EA.
  TITLE     Structure of the gene encoding the muscle-specific subunit of human
            phosphoglycerate mutase
  JOURNAL   J Biol Chem 264 (26), 15334-15337 (1989)
   PUBMED   2549058
REFERENCE   9  (bases 1 to 837)
  AUTHORS   Shanske S, Sakoda S, Hermodson MA, DiMauro S and Schon EA.
  TITLE     Isolation of a cDNA encoding the muscle-specific subunit of human
            phosphoglycerate mutase
  JOURNAL   J Biol Chem 262 (30), 14612-14617 (1987)
   PUBMED   2822696
REFERENCE   10  (bases 1 to 837)
  AUTHORS   Omenn,G.S. and Cheung,S.C.
  TITLE     Phosphoglycerate mutase isozyme marker for tissue differentiation in
            man
  JOURNAL   Am J Hum Genet 26 (3), 393-399 (1974)
   PUBMED   4827367
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC001904.1, SRR5189655.214859.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000297283.4/ ENSP00000297283.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC001904.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000290.3.
            Summary: Phosphoglycerate mutase (PGAM) catalyzes the reversible
            reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate
            (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme
            containing, in different tissues, different proportions of a
            slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB)
            isozyme, and a hybrid form (MB). This gene encodes muscle-specific
            PGAM subunit. Mutations in this gene cause muscle phosphoglycerate
            mutase eficiency, also known as glycogen storage disease X.
            [provided by RefSeq, Sep 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..837
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p13"
     gene            1..837
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /note="phosphoglycerate mutase 2"
                     /db_xref="GeneID:5224"
                     /db_xref="HGNC:HGNC:8889"
                     /db_xref="MIM:612931"
     CDS             39..800
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /EC_number="5.4.2.4"
                     /EC_number="5.4.2.11"
                     /note="BPG-dependent PGAM 2; phosphoglycerate mutase
                     isozyme M; muscle-specific phosphoglycerate mutase;
                     phosphoglycerate mutase 2 (muscle)"
                     /codon_start=1
                     /product="phosphoglycerate mutase 2"
                     /protein_id="NP_000281.2"
                     /db_xref="CCDS:CCDS34624.1"
                     /db_xref="GeneID:5224"
                     /db_xref="HGNC:HGNC:8889"
                     /db_xref="MIM:612931"
                     /translation="MATHRLVMVRHGESTWNQENRFCGWFDAELSEKGTEEAKRGAKAI
                     KDAKMEFDICYTSVLKRAIRTLWAILDGTDQMWLPVVRTWRLNERHYGGLTGLNKAETA
                     AKHGEEQVKIWRRSFDIPPPPMDEKHPYYNSISKERRYAGLKPGELPTCESLKDTIARA
                     LPFWNEEIVPQIKAGKRVLIAAHGNSLRGIVKHLEGMSDQAIMELNLPTGIPIVYELNK
                     ELKPTKPMQFLGDEETVRKAMEAVAAQGKAK"
     misc_feature    45..47
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P16290; propagated from
                     UniProtKB/Swiss-Prot (P15259.3); phosphorylation site"
     misc_feature    78..80
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P16290; propagated from
                     UniProtKB/Swiss-Prot (P15259.3); phosphorylation site"
     misc_feature    390..392
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O70250; propagated from
                     UniProtKB/Swiss-Prot (P15259.3); phosphorylation site"
     misc_feature    432..434
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P16290; propagated from
                     UniProtKB/Swiss-Prot (P15259.3); phosphorylation site"
     misc_feature    435..437
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P16290; propagated from
                     UniProtKB/Swiss-Prot (P15259.3); phosphorylation site"
     misc_feature    441..443
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P16290; propagated from
                     UniProtKB/Swiss-Prot (P15259.3); phosphorylation site"
     misc_feature    492..494
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P16290; propagated from
                     UniProtKB/Swiss-Prot (P15259.3); phosphorylation site"
     misc_feature    594..596
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /note="Transition state stabilizer.
                     /evidence=ECO:0000250|UniProtKB:P00950; propagated from
                     UniProtKB/Swiss-Prot (P15259.3); other site"
     regulatory      816..821
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /note="hexamer: AATAAA"
     polyA_site      837
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /note="major polyA site"
ORIGIN
        1 gtccccgtcc agagtcctct gtggtccctg ctgccaccat ggccactcac cgcctcgtga
       61 tggtccggca cggcgagagc acatggaacc aggagaaccg tttctgtggc tggttcgatg
      121 cagagctgag tgaaaagggg accgaggagg ccaagcgggg agccaaggcc atcaaggatg
      181 ccaagatgga gtttgacatc tgctacacgt cagtgctgaa gcgggccatc cgcaccctct
      241 gggccatcct ggacggcacg gaccagatgt ggctgcctgt ggtgcgcact tggcgcctca
      301 atgagcggca ttacgggggc ctcacaggcc tcaacaaggc agaaacggcc gccaagcacg
      361 gggaggagca ggtgaagatc tggaggcgct ccttcgacat cccgccgccc ccgatggacg
      421 agaagcaccc ctactacaac tccattagca aggagcgtcg gtacgcaggc ctgaagcccg
      481 gggaactccc cacctgcgag agcctcaagg acaccattgc ccgggccctg cccttctgga
      541 acgaggagat tgttccccag atcaaggccg gcaagcgagt gctcattgca gcccacggga
      601 acagcctgcg gggcattgtc aagcacctgg aagggatgtc agaccaggcg atcatggagc
      661 tgaacctgcc cacggggatc cccattgtgt atgagctgaa caaggagctg aagcccacca
      721 agcccatgca gttcctgggt gatgaggaaa cggtgcggaa ggccatggag gctgtggctg
      781 cccagggcaa ggccaagtga ggggtgggct tgggcaataa aggcacctcc cccaaca
//
LOCUS       NM_000291               4812 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.
ACCESSION   NM_000291
VERSION     NM_000291.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4812)
  AUTHORS   Xin X, Jia-Yin Y, Jun-Yang H, Rui W, Xiong-Ri K, Long-Rui D, Liu J
            and Jue-Yu Z.
  TITLE     Comprehensive analysis of lncRNA-mRNA co-expression networks in
            HPV-driven cervical cancer reveals the pivotal function of
            LINC00511-PGK1 in tumorigenesis
  JOURNAL   Comput Biol Med 159, 106943 (2023)
   PUBMED   37099974
  REMARK    GeneRIF: Comprehensive analysis of lncRNA-mRNA co-expression
            networks in HPV-driven cervical cancer reveals the pivotal function
            of LINC00511-PGK1 in tumorigenesis.
REFERENCE   2  (bases 1 to 4812)
  AUTHORS   Park HB, Choi BC and Baek KH.
  TITLE     PGK1 modulates balance between pro- and anti-inflammatory cytokines
            by interacting with ITI-H4
  JOURNAL   Biomed Pharmacother 161, 114437 (2023)
   PUBMED   36841032
  REMARK    GeneRIF: PGK1 modulates balance between pro- and anti-inflammatory
            cytokines by interacting with ITI-H4.
REFERENCE   3  (bases 1 to 4812)
  AUTHORS   Qiu S, Zou L, Qiu R and Wang X.
  TITLE     Circular RNA circHMCU promotes breast tumorigenesis through
            miR-4458/PGK1 regulatory cascade
  JOURNAL   Hereditas 160 (1), 12 (2023)
   PUBMED   36949536
  REMARK    GeneRIF: Circular RNA circHMCU promotes breast tumorigenesis through
            miR-4458/PGK1 regulatory cascade. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4812)
  AUTHORS   Pacheco-Garcia JL, Loginov DS, Naganathan AN, Vankova P, Cano-Munoz
            M, Man P and Pey AL.
  TITLE     Loss of stability and unfolding cooperativity in hPGK1 upon gradual
            structural perturbation of its N-terminal domain hydrophobic core
  JOURNAL   Sci Rep 12 (1), 17200 (2022)
   PUBMED   36229482
  REMARK    GeneRIF: Loss of stability and unfolding cooperativity in hPGK1 upon
            gradual structural perturbation of its N-terminal domain hydrophobic
            core. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4812)
  AUTHORS   Lay AJ, Jiang XM, Kisker O, Flynn E, Underwood A, Condron R and Hogg
            PJ.
  TITLE     Phosphoglycerate kinase acts in tumour angiogenesis as a disulphide
            reductase
  JOURNAL   Nature 408 (6814), 869-873 (2000)
   PUBMED   11130727
  REMARK    GeneRIF: Phosphoglycerate kinase is a moonlighting protein that
            functions as both a glycolytic enzyme and a disulfide reductase.
REFERENCE   6  (bases 1 to 4812)
  AUTHORS   Maeda M, Bawle EV, Kulkarni R, Beutler E and Yoshida A.
  TITLE     Molecular abnormalities of a phosphoglycerate kinase variant
            generated by spontaneous mutation
  JOURNAL   Blood 79 (10), 2759-2762 (1992)
   PUBMED   1586722
REFERENCE   7  (bases 1 to 4812)
  AUTHORS   Fujii H, Kanno H, Hirono A, Shiomura T and Miwa S.
  TITLE     A single amino acid substitution (157 Gly----Val) in a
            phosphoglycerate kinase variant (PGK Shizuoka) associated with
            chronic hemolysis and myoglobinuria
  JOURNAL   Blood 79 (6), 1582-1585 (1992)
   PUBMED   1547346
REFERENCE   8  (bases 1 to 4812)
  AUTHORS   Vishwanatha JK, Jindal HK and Davis RG.
  TITLE     The role of primer recognition proteins in DNA replication:
            association with nuclear matrix in HeLa cells
  JOURNAL   J Cell Sci 101 (Pt 1), 25-34 (1992)
   PUBMED   1533225
REFERENCE   9  (bases 1 to 4812)
  AUTHORS   Jindal HK and Vishwanatha JK.
  TITLE     Functional identity of a primer recognition protein as
            phosphoglycerate kinase
  JOURNAL   J Biol Chem 265 (12), 6540-6543 (1990)
   PUBMED   2324090
  REMARK    GeneRIF: Generif: Phosphoglycerate kinase is a moonlighting protein
            that functions as both a glycolytic enzyme and a primer recognition
            protein of DNA polymerase alpha.
REFERENCE   10  (bases 1 to 4812)
  AUTHORS   Chen,S.H., Donahue,R.P. and Scott,C.R.
  TITLE     Characterization of phosphoglycerate kinase from human spermatozoa
  JOURNAL   Fertil Steril 27 (6), 699-701 (1976)
   PUBMED   1278465
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.268563.1,
            SRR1803616.55464.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000373316.5/ ENSP00000362413.4
            multifunctional gene product(s) :: PMID: 2324090, 11130727
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC336483.1, BC103752.1,
            BU677171.1 and AL049589.15.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 7, 2018 this sequence version replaced NM_000291.3.
            Summary: The protein encoded by this gene is a glycolytic enzyme
            that catalyzes the conversion of 1,3-diphosphoglycerate to
            3-phosphoglycerate. The encoded protein may also act as a cofactor
            for polymerase alpha. Additionally, this protein is secreted by
            tumor cells where it participates in angiogenesis by functioning to
            reduce disulfide bonds in the serine protease, plasmin, which
            consequently leads to the release of the tumor blood vessel
            inhibitor angiostatin. The encoded protein has been identified as a
            moonlighting protein based on its ability to perform
            mechanistically distinct functions. Deficiency of the enzyme is
            associated with a wide range of clinical phenotypes hemolytic
            anemia and neurological impairment. Pseudogenes of this gene have
            been defined on chromosomes 19, 21 and the X chromosome. [provided
            by RefSeq, Jan 2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4812
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.1"
     gene            1..4812
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="phosphoglycerate kinase 1"
                     /db_xref="GeneID:5230"
                     /db_xref="HGNC:HGNC:8896"
                     /db_xref="MIM:311800"
     CDS             94..1347
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /EC_number="2.7.2.3"
                     /note="primer recognition protein 2; cell
                     migration-inducing gene 10 protein; PRP 2; epididymis
                     secretory sperm binding protein Li 68p"
                     /codon_start=1
                     /product="phosphoglycerate kinase 1"
                     /protein_id="NP_000282.1"
                     /db_xref="CCDS:CCDS14438.1"
                     /db_xref="GeneID:5230"
                     /db_xref="HGNC:HGNC:8896"
                     /db_xref="MIM:311800"
                     /translation="MSLSNKLTLDKLDVKGKRVVMRVDFNVPMKNNQITNNQRIKAAVP
                     SIKFCLDNGAKSVVLMSHLGRPDGVPMPDKYSLEPVAVELKSLLGKDVLFLKDCVGPEV
                     EKACANPAAGSVILLENLRFHVEEEGKGKDASGNKVKAEPAKIEAFRASLSKLGDVYVN
                     DAFGTAHRAHSSMVGVNLPQKAGGFLMKKELNYFAKALESPERPFLAILGGAKVADKIQ
                     LINNMLDKVNEMIIGGGMAFTFLKVLNNMEIGTSLFDEEGAKIVKDLMSKAEKNGVKIT
                     LPVDFVTADKFDENAKTGQATVASGIPAGWMGLDCGPESSKKYAEAVTRAKQIVWNGPV
                     GVFEWEAFARGTKALMDEVVKATSRGCITIIGGGDTATCCAKWNTEDKVSHVSTGGGAS
                     LELLEGKVLPGVDALSNI"
     misc_feature    97..99
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); acetylation site"
     misc_feature    97..99
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); phosphorylation site"
     misc_feature    103..105
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); phosphorylation site"
     misc_feature    124..126
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); acetylation site"
     misc_feature    235..237
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); acetylation site"
     misc_feature    316..318
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); acetylation site"
     misc_feature    319..321
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P09411; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); phosphorylation site"
     misc_feature    349..351
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); acetylation site"
     misc_feature    364..366
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P09411; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); acetylation site"
     misc_feature    382..384
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); acetylation site"
     misc_feature    484..486
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); acetylation site"
     misc_feature    529..531
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); acetylation site"
     misc_feature    679..681
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); phosphorylation site"
     misc_feature    688..690
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); acetylation site"
     misc_feature    700..702
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P00558.3);
                     phosphorylation site"
     misc_feature    892..894
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); acetylation site"
     misc_feature    964..966
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); acetylation site"
     misc_feature    1174..1176
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P09411; propagated from
                     UniProtKB/Swiss-Prot (P00558.3); acetylation site"
     regulatory      1765..1770
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="hexamer: AATAAA"
     polyA_site      1790
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="major polyA site"
     regulatory      2326..2331
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="hexamer: ATTAAA"
     polyA_site      2348
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
     regulatory      2446..2451
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="hexamer: ATTAAA"
     polyA_site      2466
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
     regulatory      4792..4797
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
                     /note="hexamer: ATTAAA"
     polyA_site      4812
                     /gene="PGK1"
                     /gene_synonym="HEL-S-68p; MIG10; PGKA"
ORIGIN
        1 gttccgcatt ctgcaagcct ccggagcgca cgtcggcagt cggctccctc gttgaccgaa
       61 tcaccgacct ctctccccag ctgtatttcc aaaatgtcgc tttctaacaa gctgacgctg
      121 gacaagctgg acgttaaagg gaagcgggtc gttatgagag tcgacttcaa tgttcctatg
      181 aagaacaacc agataacaaa caaccagagg attaaggctg ctgtcccaag catcaaattc
      241 tgcttggaca atggagccaa gtcggtagtc cttatgagcc acctaggccg gcctgatggt
      301 gtgcccatgc ctgacaagta ctccttagag ccagttgctg tagaactcaa atctctgctg
      361 ggcaaggatg ttctgttctt gaaggactgt gtaggcccag aagtggagaa agcctgtgcc
      421 aacccagctg ctgggtctgt catcctgctg gagaacctcc gctttcatgt ggaggaagaa
      481 gggaagggaa aagatgcttc tgggaacaag gttaaagccg agccagccaa aatagaagct
      541 ttccgagctt cactttccaa gctaggggat gtctatgtca atgatgcttt tggcactgct
      601 cacagagccc acagctccat ggtaggagtc aatctgccac agaaggctgg tgggtttttg
      661 atgaagaagg agctgaacta ctttgcaaag gccttggaga gcccagagcg acccttcctg
      721 gccatcctgg gcggagctaa agttgcagac aagatccagc tcatcaataa tatgctggac
      781 aaagtcaatg agatgattat tggtggtgga atggctttta ccttccttaa ggtgctcaac
      841 aacatggaga ttggcacttc tctgtttgat gaagagggag ccaagattgt caaagaccta
      901 atgtccaaag ctgagaagaa tggtgtgaag attaccttgc ctgttgactt tgtcactgct
      961 gacaagtttg atgagaatgc caagactggc caagccactg tggcttctgg catacctgct
     1021 ggctggatgg gcttggactg tggtcctgaa agcagcaaga agtatgctga ggctgtcact
     1081 cgggctaagc agattgtgtg gaatggtcct gtgggggtat ttgaatggga agcttttgcc
     1141 cggggaacca aagctctcat ggatgaggtg gtgaaagcca cttctagggg ctgcatcacc
     1201 atcataggtg gtggagacac tgccacttgc tgtgccaaat ggaacacgga ggataaagtc
     1261 agccatgtga gcactggggg tggtgccagt ttggagctcc tggaaggtaa agtccttcct
     1321 ggggtggatg ctctcagcaa tatttagtac tttcctgcct tttagttcct gtgcacagcc
     1381 cctaagtcaa cttagcattt tctgcatctc cacttggcat tagctaaaac cttccatgtc
     1441 aagattcagc tagtggccaa gagatgcagt gccaggaacc cttaaacagt tgcacagcat
     1501 ctcagctcat cttcactgca ccctggattt gcatacattc ttcaagatcc catttgaatt
     1561 ttttagtgac taaaccattg tgcattctag agtgcatata tttatatttt gcctgttaaa
     1621 aagaaagtga gcagtgttag cttagttctc ttttgatgta ggttattatg attagctttg
     1681 tcactgtttc actactcagc atggaaacaa gatgaaattc catttgtagg tagtgagaca
     1741 aaattgatga tccattaagt aaacaataaa agtgtccatt gaaaccgtga tttttttttt
     1801 tttcctgtca tactttgtta ggaagggtga gaatagaatc ttgaggaacg gatcagatgt
     1861 ctatattgct gaatgcaaga agtggggcag cagcagtgga gagatgggac aattagataa
     1921 atgtccattc tttatcaagg gcctacttta tggcagacat tgtgctagtg cttttattct
     1981 aacttttatt tttatcagtt acacatgatc ataatttaaa aagtcaaggc ttataacaaa
     2041 aaagccccag cccattcctc ccattcaaga ttcccactcc ccagaggtga ccactttcaa
     2101 ctcttgagtt tttcaggtat atacctccat gtttctaagt aatatgctta tattgttcac
     2161 ttcttttttt tttatttttt aaagaaatct atttcatacc atggaggaag gctctgttcc
     2221 acatatattt ccacttcttc attctctcgg tatagttttg tcacaattat agattagatc
     2281 aaaagtctac ataactaata cagctgagct atgtagtatg ctatgattaa atttacttat
     2341 gtaactttta ttgtctttgg cattaacagt gtttcaaaaa attttctgtg tatacccatc
     2401 agtgattcat tcccaaatct tctagaagca taagtgtctc aatatattaa aacatattga
     2461 ataatccttg ttagagttat ccctgcagga gtccttagtg ctcctttatc caatttgtac
     2521 ttgatgccct ctaggcaggg tgtacagcta gctgttgctc tggtatttcc tataaccttc
     2581 ttggggattt cttttacctc ctgtgttaga ctcctgtttt ctggattccc ccttttccct
     2641 ctttcttggt ctactttttg tagaacacaa gactctacta gcttcctgag aaagggtgcc
     2701 tgggaggcaa aatctctaag actttgtaag tctgaaaatg tctttattcg acccttatac
     2761 ttgattccta gtttggctat atatagaatt ttagcctgag tatcactttt tgagactcga
     2821 agccactgtt tcattgtcac tattgagaat ctaaatggcc attcggattc tttcatcatc
     2881 tttataattt taccttccta tttctttcct gtccttttaa tggagttttg ggagagagca
     2941 gaggtaaaca tgatttgaaa aagccatgtc tgaccagaaa ttctgtgctg gaaagatatg
     3001 tatttcacct ttagggacaa agaaataaac ttttggacag gaccacagag ctagtaagta
     3061 acagcaggga ttcaagtcca ggtttgtctg gttccagtgg ctgatgcttt tccaatgtgc
     3121 ctccgtccct gacatgatgc ttctaggcta tagatgcttc tagactctat ccctgacatg
     3181 atgcttctag actattttgt ttaaccctgg atagaatagc aaaagaaaat tttggtggtt
     3241 gctctaaaca aaacagaaat ttgaaagctc aagttttttc ttcatttgta ttttagttaa
     3301 tactgtaccc atatttgtag ttaattttaa attgtaccat gtttctgcat acctctatgg
     3361 gtactcagga attctagtcc aatttttgtg actttttcct actgattacc tttcctccaa
     3421 cgttttaaaa attatttcaa atggaactga aagaagcata aactcccata aacccagcac
     3481 ctagactcta caattgccaa cattatctat ccaacaatct ctgactgtac cttttaagta
     3541 ctttctactg gactgtttcc aggatcaccc ctcatttatt tgggttgtta acctaaagaa
     3601 tgaatggggg aatctccagt cataaacaac ttgtcaatta ggcaaatatt tgagttcctt
     3661 ctatgtgctt aaagacgtga tagagggaat ataagagcat ttatgttctg aaggaatttt
     3721 taacctaacc aaagaagata gtagataact tgtgtgcata taagctagaa cagtataagg
     3781 ggccgggcat ggtggcttac gcctgtaatc ccaggacttt gggaggccaa ggcgggcaga
     3841 tcacctgtca ggagtttggg accagcctgg ccaacatggt gaaaccccgt ttctaccaaa
     3901 aatacaaaaa ttagccgggc gtggtggcgt gtgccactgt agtcccagct attcagaagg
     3961 ctgaggcagg agaatcactt gaacccggga ggtggaggtt gcagtgagct gagatcacgc
     4021 tactgcattc ctgcttgggc gacagagtga gactctgcct caaaacaaaa accccacaaa
     4081 acagtataag gatgtgcttt ctaatttgga attatgaatt attggtaaaa tattgcaaag
     4141 gtgtatgctt taagttgtaa attcaccttt aaccctagac tatatatgtg tgtttatatg
     4201 cagaaaaaaa taattcccat gtcgtaagtg aacaatttgg ttctttagct cagtgttttc
     4261 ctgttttctt catttccaaa atttccctct agcacagggg tttacacatg atcaaaaagg
     4321 agtatacaat gaagacacct tcctcagtcc cctacctacc agtttccctc cccagaagca
     4381 acctctggaa gaccagtttc tttcaatcta aggctattta atatacatta agaggccggg
     4441 cgcagtggct cacgcctgta atcccaacaa cactttggga ggcccaggca ggcgggtcat
     4501 gaggtcagga gattgagacc atcctggcta acacggtgaa accctgtctc tactaaaaat
     4561 acaaaaaatt agctgggcgt gatggtgggc gcctgtagtc ccagctactc gggaggctga
     4621 ggcaggagaa tggcgtgaac ctgggaagcg gagctcgcag tgagccgaga tcacgccact
     4681 gcactccagc ctgggcaaca gtgagactct gcataaagag catacccatg tgtgtaccta
     4741 tctatctatc tatctatcta tctatctatc tatctatctg tatatagata tattaaaatg
     4801 taaatggtgg ca
//
LOCUS       NM_000292               5077 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens phosphorylase kinase regulatory subunit alpha 2
            (PHKA2), mRNA.
ACCESSION   NM_000292
VERSION     NM_000292.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5077)
  AUTHORS   Dong R, Wei X, Zhang K, Song F, Lv Y, Gao M, Wang D, Ma J, Gai Z and
            Liu Y.
  TITLE     Genotypic and phenotypic characteristics of 12 chinese children with
            glycogen storage diseases
  JOURNAL   Front Genet 13, 932760 (2022)
   PUBMED   36105079
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5077)
  AUTHORS   Benner A, Alhaidan Y, Lines MA, Brusgaard K, De Leon DD, Sparkes R,
            Frederiksen AL and Christesen HT.
  TITLE     PHKA2 variants expand the phenotype of phosphorylase B kinase
            deficiency to include patients with ketotic hypoglycemia only
  JOURNAL   Am J Med Genet A 185 (10), 2959-2975 (2021)
   PUBMED   34117828
  REMARK    GeneRIF: PHKA2 variants expand the phenotype of phosphorylase B
            kinase deficiency to include patients with ketotic hypoglycemia
            only.
REFERENCE   3  (bases 1 to 5077)
  AUTHORS   Fernandes SA, Cooper GE, Gibson RA and Kishnani PS.
  TITLE     Benign or not benign? Deep phenotyping of liver Glycogen Storage
            Disease IX
  JOURNAL   Mol Genet Metab 131 (3), 299-305 (2020)
   PUBMED   33317799
  REMARK    GeneRIF: Benign or not benign? Deep phenotyping of liver Glycogen
            Storage Disease IX.
REFERENCE   4  (bases 1 to 5077)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 5077)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   6  (bases 1 to 5077)
  AUTHORS   Herbert,M., Goldstein,J.L., Rehder,C., Austin,S., Kishnani,P.S. and
            Bali,D.S.
  TITLE     Phosphorylase Kinase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   21634085
REFERENCE   7  (bases 1 to 5077)
  AUTHORS   Davidson JJ, Ozcelik T, Hamacher C, Willems PJ, Francke U and
            Kilimann MW.
  TITLE     cDNA cloning of a liver isoform of the phosphorylase kinase alpha
            subunit and mapping of the gene to Xp22.2-p22.1, the region of human
            X-linked liver glycogenosis
  JOURNAL   Proc Natl Acad Sci U S A 89 (6), 2096-2100 (1992)
   PUBMED   1372435
REFERENCE   8  (bases 1 to 5077)
  AUTHORS   Wauters JG, Bossuyt PJ, Davidson J, Hendrickx J, Kilimann MW and
            Willems PJ.
  TITLE     Regional mapping of a liver alpha-subunit gene of phosphorylase
            kinase (PHKA) to the distal region of human chromosome Xp
  JOURNAL   Cytogenet Cell Genet 60 (3-4), 194-196 (1992)
   PUBMED   1505214
REFERENCE   9  (bases 1 to 5077)
  AUTHORS   Willems,P.
  TITLE     Families with X-linked liver glycogenosis due to phosphorylase
            kinase deficiency
  JOURNAL   Clin Genet 38 (1), 80 (1990)
   PUBMED   2387090
REFERENCE   10  (bases 1 to 5077)
  AUTHORS   Willems PJ, Gerver WJ, Berger R and Fernandes J.
  TITLE     The natural history of liver glycogenosis due to phosphorylase
            kinase deficiency: a longitudinal study of 41 patients
  JOURNAL   Eur J Pediatr 149 (4), 268-271 (1990)
   PUBMED   2303074
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.260408.1, D38616.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379942.5/ ENSP00000369274.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC014036.2, X80497.1,
            CD722555.1 and W63591.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000292.2.
            Summary: Phosphorylase kinase is a polymer of 16 subunits, four
            each of alpha, beta, gamma and delta. The alpha subunit includes
            the skeletal muscle and hepatic isoforms, and the hepatic isoform
            is encoded by this gene. The beta subunit is the same in both the
            muscle and hepatic isoforms, and encoded by one gene. The gamma
            subunit also includes the skeletal muscle and hepatic isoforms,
            which are encoded by two different genes. The delta subunit is a
            calmodulin and can be encoded by three different genes. The gamma
            subunits contain the active site of the enzyme, whereas the alpha
            and beta subunits have regulatory functions controlled by
            phosphorylation. The delta subunit mediates the dependence of the
            enzyme on calcium concentration. Mutations in this gene cause
            glycogen storage disease type 9A, also known as X-linked liver
            glycogenosis. Alternatively spliced transcript variants have been
            reported, but the full-length nature of these variants has not been
            determined.[provided by RefSeq, Feb 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5077
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.13"
     gene            1..5077
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /note="phosphorylase kinase regulatory subunit alpha 2"
                     /db_xref="GeneID:5256"
                     /db_xref="HGNC:HGNC:8926"
                     /db_xref="MIM:300798"
     misc_feature    87..89
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /note="upstream in-frame stop codon"
     CDS             183..3890
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /EC_number="2.7.11.19"
                     /note="phosphorylase kinase alpha L subunit; phosphorylase
                     kinase alpha-subunit"
                     /codon_start=1
                     /product="phosphorylase b kinase regulatory subunit alpha,
                     liver isoform"
                     /protein_id="NP_000283.1"
                     /db_xref="CCDS:CCDS14190.1"
                     /db_xref="GeneID:5256"
                     /db_xref="HGNC:HGNC:8926"
                     /db_xref="MIM:300798"
                     /translation="MRSRSNSGVRLDGYARLVQQTILCYQNPVTGLLSASHEQKDAWVR
                     DNIYSILAVWGLGMAYRKNADRDEDKAKAYELEQNVVKLMRGLLQCMMRQVAKVEKFKH
                     TQSTKDSLHAKYNTATCGTVVGDDQWGHLQVDATSLFLLFLAQMTASGLRIIFTLDEVA
                     FIQNLVFYIEAAYKVADYGMWERGDKTNQGIPELNASSVGMAKAALEAIDELDLFGAHG
                     GRKSVIHVLPDEVEHCQSILFSMLPRASTSKEIDAGLLSIISFPAFAVEDVNLVNVTKN
                     EIISKLQGRYGCCRFLRDGYKTPREDPNRLHYDPAELKLFENIECEWPVFWTYFIIDGV
                     FSGDAVQVQEYREALEGILIRGKNGIRLVPELYAVPPNKVDEEYKNPHTVDRVPMGKVP
                     HLWGQSLYILSSLLAEGFLAAGEIDPLNRRFSTSVKPDVVVQVTVLAENNHIKDLLRKH
                     GVNVQSIADIHPIQVQPGRILSHIYAKLGRNKNMNLSGRPYRHIGVLGTSKLYVIRNQI
                     FTFTPQFTDQHHFYLALDNEMIVEMLRIELAYLCTCWRMTGRPTLTFPISRTMLTNDGS
                     DIHSAVLSTIRKLEDGYFGGARVKLGNLSEFLTTSFYTYLTFLDPDCDEKLFDNASEGT
                     FSPDSDSDLVGYLEDTCNQESQDELDHYINHLLQSTSLRSYLPPLCKNTEDRHVFSAIH
                     STRDILSVMAKAKGLEVPFVPMTLPTKVLSAHRKSLNLVDSPQPLLEKVPESDFQWPRD
                     DHGDVDCEKLVEQLKDCSNLQDQADILYILYVIKGPSWDTNLSGQHGVTVQNLLGELYG
                     KAGLNQEWGLIRYISGLLRKKVEVLAEACTDLLSHQKQLTVGLPPEPREKIISAPLPPE
                     ELTKLIYEASGQDISIAVLTQEIVVYLAMYVRAQPSLFVEMLRLRIGLIIQVMATELAR
                     SLNCSGEEASESLMNLSPFDMKNLLHHILSGKEFGVERSVRPIHSSTSSPTISIHEVGH
                     TGVTKTERSGINRLRSEMKQMTRRFSADEQFFSVGQAASSSAHSSKSARSSTPSSPTGT
                     SSSDSGGHHIGWGERQGQWLRRRRLDGAINRVPVGFYQRVWKILQKCHGLSIDGYVLPS
                     STTREMTPHEIKFAVHVESVLNRVPQPEYRQLLVEAIMVLTLLSDTEMTSIGGIIHVDQ
                     IVQMASQLFLQDQVSIGAMDTLEKDQATGICHFFYDSAPSGAYGTMTYLTRAVASYLQE
                     LLPNSGCQMQ"
     misc_feature    2265..2267
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46019.1); phosphorylation site"
     misc_feature    2367..2369
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P46019.1); phosphorylation site"
     misc_feature    2385..2387
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P46019.1);
                     phosphorylation site"
     misc_feature    2601..2693
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /note="propagated from UniProtKB/Swiss-Prot (P46019.1);
                     Region: Calmodulin-binding. /evidence=ECO:0000255"
     misc_feature    3096..3176
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /note="propagated from UniProtKB/Swiss-Prot (P46019.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3129..3131
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P46019.1); phosphorylation site"
     misc_feature    3225..3227
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46019.1); phosphorylation site"
     misc_feature    3264..3362
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /note="propagated from UniProtKB/Swiss-Prot (P46019.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3312..3314
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P46019.1); phosphorylation site"
     misc_feature    3357..3479
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /note="propagated from UniProtKB/Swiss-Prot (P46019.1);
                     Region: Calmodulin-binding. /evidence=ECO:0000255"
     regulatory      4378..4383
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /note="hexamer: AATAGA"
     polyA_site      4405
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /note="major polyA site"
     regulatory      5052..5057
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
                     /note="hexamer: AATAAA"
     polyA_site      5077
                     /gene="PHKA2"
                     /gene_synonym="GSD9A; PHK; PYK; PYKL; XLG; XLG2"
ORIGIN
        1 gctttccaac cggactttgg ggctagcgtt tagaaaagtc tcgacctcct ccggcccggt
       61 cccatcccaa gaaccgacta aggctgtgag tgtccgggaa ccagacccgc ttggaggcca
      121 cagccccgac gtcccgcgcc cacgcggcag atcgggcgct gcggcctggg agcctcgggg
      181 agatgcggag caggagcaat tccggggtcc gcttggacgg gtacgcgcgg ctggtgcagc
      241 aaaccatcct gtgttaccag aatcccgtca cggggctgct gtcagccagc catgagcaga
      301 aggatgcctg ggtgcgggat aacatctaca gtatcctggc cgtgtggggc ctgggcatgg
      361 cctaccgtaa gaatgcagac cgcgatgagg acaaggccaa ggcctacgag ctggagcaga
      421 acgtggtgaa gctgatgcga ggtcttctcc agtgcatgat gagacaggtg gccaaagtgg
      481 agaagttcaa acacactcag agcaccaagg acagcctgca cgccaagtac aacaccgcca
      541 cctgtggcac ggtggtgggc gacgaccagt ggggccacct ccaggtggat gccacctctc
      601 tcttcctcct gttcctggcc cagatgaccg cctcaggctt acgtatcatt ttcactctcg
      661 atgaggtggc cttcatacag aatcttgtct tttacataga agctgcatat aaagtcgctg
      721 attatggaat gtgggagcgt ggagataaga ctaatcaggg catcccggaa ttgaatgcaa
      781 gctccgtagg aatggccaag gcagctcttg aggcaattga tgaactggac ctttttggag
      841 cccatggagg acgcaagtca gtgattcatg ttctgccaga tgaggtcgag cactgccagt
      901 ctattctgtt ctccatgctg ccaagagcgt cgacatctaa agaaattgat gctggacttc
      961 tttccattat ttccttcccg gcctttgcag tggaagatgt aaaccttgta aatgtgacca
     1021 aaaatgaaat tatttctaag ctccaggggc gttatggatg ctgtcgcttc cttcgagatg
     1081 gttataaaac tccaagagag gaccctaatc gactgcatta tgaccctgct gaactcaagc
     1141 tcttcgaaaa cattgaatgt gagtggcctg tgttttggac atattttata atagatggag
     1201 tcttcagtgg tgatgctgtt caggtccaag aataccgaga ggccctggag ggaatactca
     1261 tcagaggcaa gaatgggatc cgcctggtgc ctgaactcta cgctgtcccg cctaacaagg
     1321 tagatgaaga gtacaagaat cctcacacag tagaccgagt tcctatgggg aaggtgcctc
     1381 atctgtgggg ccaatccttg tacatcctca gctcgctgtt ggcagaggga ttccttgccg
     1441 ctggtgaaat cgatccctta aatagaagat tttccacttc agtcaaacct gatgttgtag
     1501 tacaagttac tgttttggca gaaaacaatc acattaagga cttattgagg aaacacgggg
     1561 tgaacgtcca gagtatcgcg gacattcatc caattcaagt ccagccgggc cggattctta
     1621 gtcacatata tgccaagctt ggacggaata agaatatgaa tttgagtggg cgaccgtatc
     1681 gacatattgg tgtccttgga acctctaaac tatatgtgat taggaaccaa atctttactt
     1741 ttacacccca gttcaccgac cagcatcact tctacctggc cctcgacaat gagatgatcg
     1801 tggagatgct aaggatcgag ctggcctacc tgtgcacctg ctggaggatg acgggcagac
     1861 ccacactcac cttccccatc agtcgcacca tgctcacaaa tgatggctca gacattcatt
     1921 ctgctgtgct ctccacaatt agaaaactag aggatggata ttttggagga gccagagtaa
     1981 aattagggaa cctttcggaa tttctcacca catcgttcta cacatatctg acttttctgg
     2041 atccagactg tgatgagaag ttgtttgaca atgccagcga agggactttc agtcctgata
     2101 gtgattcaga tttggtagga tatctggaag acacctgtaa tcaagaaagc caagacgaac
     2161 ttgaccatta tatcaaccac cttctgcaaa gcacatcgtt gaggtcctat ctgcctcctc
     2221 tttgtaagaa cacagaagac cgccatgtct tcagtgctat ccactccacg cgggacatac
     2281 tttctgtgat ggcaaaagca aagggtttgg aagttccatt tgttcccatg actttgccga
     2341 ctaaagttct aagtgcccac cgtaaatcac tgaatcttgt tgattctcct cagccactcc
     2401 tagaaaaggt tcctgaaagt gactttcagt ggcccagaga tgaccatggt gacgtggact
     2461 gtgagaagct ggttgagcag ctaaaagatt gttcgaacct acaggaccaa gcagacattc
     2521 tgtacattct ttatgtcata aagggtccca gctgggacac aaatctctct ggacagcacg
     2581 gggtcaccgt tcaaaacctt cttggtgagc tctatgggaa agccggcttg aaccaggagt
     2641 ggggtctgat tcgctacatc tcaggccttc tcaggaagaa agtggaggtc ctggctgagg
     2701 cctgcacaga cctgctttcg caccagaagc agctcaccgt gggcctgccg cccgagcccc
     2761 gggagaagat catctctgcg ccccttcccc cagaggagct cacaaaactc atctacgagg
     2821 ccagtgggca ggacatcagc attgccgtcc tcacgcagga gattgtggtt tacctggcca
     2881 tgtatgtcag ggcgcagccc agcctctttg tggagatgct gagactccgg attggactga
     2941 tcattcaggt gatggccacg gagctggcac ggagcctgaa ctgctcagga gaagaggctt
     3001 ctgaaagttt gatgaacctc agccctttcg atatgaaaaa tctcctgcac catattctaa
     3061 gtgggaaaga gtttggcgtt gaaagaagtg tgcgccctat ccactcctcc acatccagcc
     3121 ctaccatctc catccacgag gtgggccata ccggagtcac caaaactgag aggagtggca
     3181 ttaacagact gaggagtgaa atgaaacaga tgactaggcg gtttagtgct gatgaacagt
     3241 tcttttctgt gggccaggcc gcgtccagca gtgcgcattc ctccaagtct gcgaggtcca
     3301 gcaccccatc ctcgcccact ggcacgtcat cctcagactc gggaggacat cacatcggct
     3361 ggggtgagcg gcagggccag tggctgcgca ggagaaggct ggatggggcc atcaacaggg
     3421 tccccgtggg attctaccag agggtgtgga agatcctcca gaagtgccac ggtctctcca
     3481 tcgatggtta tgtcctccca tcctcgacga cccgagagat gaccccgcat gagatcaagt
     3541 ttgctgtcca tgtcgaatcg gtgctgaacc gcgtgccgca gcccgagtac cggcagctgc
     3601 tggtggaagc catcatggtg ctgacgctgc tctcggacac ggagatgacc agcatcgggg
     3661 gcatcatcca cgtggaccag atcgtgcaga tggccagtca gctgttcttg caggaccagg
     3721 tgtcaattgg tgccatggac accctggaga aagaccaagc cacaggaatc tgccacttct
     3781 tttatgacag cgctccgagt ggggcttatg ggacgatgac ctacctaaca agagcagtgg
     3841 cttcttattt gcaggaattg ttgcccaatt cgggctgcca gatgcaatag ggtctcacct
     3901 ggaaacatga tcacactctc aatctgtcac gtgcccccta gccttactgg gaaccttctg
     3961 tcccccaaga tcccctgtgc tatcaggaaa gcatgtccca tcagaaacac tctcgggggg
     4021 caatggtagc actcaccctg aaactgatgt atgttaaagc cacagagata gagctgagga
     4081 gtcctgtgtt cccccgcaag gagcaccccg ggatcatttt ctaggttcat ttctctggaa
     4141 catttgctgt agcatctggt ctcacggact ctgaggagga attggaaatt ggtctctttt
     4201 gagtgcagag ggaactgaga cgccagctta aattggctct tgcagagagt tacagaaata
     4261 gtttcgatga gctagtgaca catcctaaag atgcaaagat cctcctggcg gcagtagcct
     4321 tgacaagggc cacctcttca caggatgcag tctgtctgtg caccaaactc ttcaccaaat
     4381 agaacacttg tgtctctctg tggaatgggg gttttcttgt gccttgcttg ctttcatagc
     4441 cttccatttt attggcatgg ctgccttgat gtaacataat tctctgtccc caagatttag
     4501 aaaattcctc ttcgttcacc ttggctcatg gtcttccagg gtttttatcc tggctgtcta
     4561 tgaactaggg ttttctcctg ccttaggaaa aatactgcat cttctggaat ctagaaaaaa
     4621 aaaaaaaaaa agacaaggct cctcttatag ccaggcaagc agttgtttag ggctagacct
     4681 gttgtccccg ctcgcgtggg gtgaacgccc cgcagtggat actgtcctcc tgtgctctgg
     4741 gcgaggcgtc atagggtgag cacaagtcag cagtgccatg gaagtgaaca ggcatgtccc
     4801 cgcagaaaca atgcttccct ctgaaaaata gagccaggct aggaacctgt accctcttgg
     4861 tagaagcact ttggtcttca ctctcttggg tgggtgcagt tggaggcacc gattggagga
     4921 gagcaaggtt gagtcaggtg tcagggtctg gcaaatcttt tgccaatgcc ctagcaatgg
     4981 agtttctctc cgggcattgt cttaccttgg gggaaggaaa caaaaccaat gggaaaacag
     5041 tttctgtaaa taataaacct tgaaagacaa atgctca
//
LOCUS       NM_000293               5459 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens phosphorylase kinase regulatory subunit beta (PHKB),
            transcript variant 1, mRNA.
ACCESSION   NM_000293
VERSION     NM_000293.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5459)
  AUTHORS   Yang W, Zhang C, Li Y, Jin A, Sun Y, Yang X, Wang B and Guo W.
  TITLE     Phosphorylase Kinase beta Represents a Novel Prognostic Biomarker
            and Inhibits Malignant Phenotypes of Liver Cancer Cell
  JOURNAL   Int J Biol Sci 15 (12), 2596-2606 (2019)
   PUBMED   31754332
  REMARK    GeneRIF: PHKB acts as a novel prognostic indicator for HCC, which
            exerts its suppression function via inactivating AKT and STAT3.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5459)
  AUTHORS   Wang G, Shen W, Liu CY, Liu Y, Wu T, Cui X, Yu T, Zhu Y, Song J, Du
            P and Cui L.
  TITLE     Phosphorylase kinase beta affects colorectal cancer cell growth and
            represents a novel prognostic biomarker
  JOURNAL   J Cancer Res Clin Oncol 143 (6), 971-980 (2017)
   PUBMED   28275865
  REMARK    GeneRIF: PHKb affects colorectal cancer cell growth and represents a
            novel prognostic biomarker.
REFERENCE   3  (bases 1 to 5459)
  AUTHORS   Terashima M, Fujita Y, Togashi Y, Sakai K, De Velasco MA, Tomida S
            and Nishio K.
  TITLE     KIAA1199 interacts with glycogen phosphorylase kinase beta-subunit
            (PHKB) to promote glycogen breakdown and cancer cell survival
  JOURNAL   Oncotarget 5 (16), 7040-7050 (2014)
   PUBMED   25051373
  REMARK    GeneRIF: Analysis showed that the glycogen phosphorylase kinase
            beta-subunit (PHKB) interacted with the C-terminal region of
            KIAA1199 protein.
REFERENCE   4  (bases 1 to 5459)
  AUTHORS   Schlafli P, Troger J, Eckhardt K, Borter E, Spielmann P and Wenger
            RH.
  TITLE     Substrate preference and phosphatidylinositol monophosphate
            inhibition of the catalytic domain of the Per-Arnt-Sim domain kinase
            PASKIN
  JOURNAL   FEBS J 278 (10), 1757-1768 (2011)
   PUBMED   21418524
REFERENCE   5  (bases 1 to 5459)
  AUTHORS   Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny
            P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S and Sharrard M.
  TITLE     Glycogen storage disease type IX: High variability in clinical
            phenotype
  JOURNAL   Mol Genet Metab 92 (1-2), 88-99 (2007)
   PUBMED   17689125
REFERENCE   6  (bases 1 to 5459)
  AUTHORS   van den Berg IE, van Beurden EA, de Klerk JB, van Diggelen OP,
            Malingre HE, Boer MM and Berger R.
  TITLE     Autosomal recessive phosphorylase kinase deficiency in liver, caused
            by mutations in the gene encoding the beta subunit (PHKB)
  JOURNAL   Am J Hum Genet 61 (3), 539-546 (1997)
   PUBMED   9326319
REFERENCE   7  (bases 1 to 5459)
  AUTHORS   Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS,
            Strachan JA and Kilimann MW.
  TITLE     Autosomal glycogenosis of liver and muscle due to phosphorylase
            kinase deficiency is caused by mutations in the phosphorylase kinase
            beta subunit (PHKB)
  JOURNAL   Hum Mol Genet 6 (7), 1109-1115 (1997)
   PUBMED   9215682
REFERENCE   8  (bases 1 to 5459)
  AUTHORS   Wullrich-Schmoll A and Kilimann MW.
  TITLE     Structure of the human gene encoding the phosphorylase kinase beta
            subunit (PHKB)
  JOURNAL   Eur J Biochem 238 (2), 374-380 (1996)
   PUBMED   8681948
REFERENCE   9  (bases 1 to 5459)
  AUTHORS   Herbert,M., Goldstein,J.L., Rehder,C., Austin,S., Kishnani,P.S. and
            Bali,D.S.
  TITLE     Phosphorylase Kinase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   21634085
REFERENCE   10  (bases 1 to 5459)
  AUTHORS   Francke U, Darras BT, Zander NF and Kilimann MW.
  TITLE     Assignment of human genes for phosphorylase kinase subunits alpha
            (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13
  JOURNAL   Am J Hum Genet 45 (2), 276-282 (1989)
   PUBMED   2757032
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X84908.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2146411,
            SAMEA2151741 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000323584.10/ ENSP00000313504.5
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X84908.1 and AC092374.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000293.2.
            Summary: Phosphorylase kinase is a polymer of 16 subunits, four
            each of alpha, beta, gamma and delta. The alpha subunit includes
            the skeletal muscle and hepatic isoforms, encoded by two different
            genes. The beta subunit is the same in both the muscle and hepatic
            isoforms, encoded by this gene, which is a member of the
            phosphorylase b kinase regulatory subunit family. The gamma subunit
            also includes the skeletal muscle and hepatic isoforms, encoded by
            two different genes. The delta subunit is a calmodulin and can be
            encoded by three different genes. The gamma subunits contain the
            active site of the enzyme, whereas the alpha and beta subunits have
            regulatory functions controlled by phosphorylation. The delta
            subunit mediates the dependence of the enzyme on calcium
            concentration. Mutations in this gene cause glycogen storage
            disease type 9B, also known as phosphorylase kinase deficiency of
            liver and muscle. Alternatively spliced transcript variants
            encoding different isoforms have been identified in this gene. Two
            pseudogenes have been found on chromosomes 14 and 20,
            respectively.[provided by RefSeq, Feb 2010].
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5459
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.1"
     gene            1..5459
                     /gene="PHKB"
                     /note="phosphorylase kinase regulatory subunit beta"
                     /db_xref="GeneID:5257"
                     /db_xref="HGNC:HGNC:8927"
                     /db_xref="MIM:172490"
     CDS             21..3302
                     /gene="PHKB"
                     /EC_number="2.7.11.19"
                     /note="isoform a is encoded by transcript variant 1;
                     phosphorylase b kinase regulatory subunit beta;
                     phosphorylase kinase beta-subunit; phosphorylase kinase
                     subunit beta; phosphorylase kinase, beta"
                     /codon_start=1
                     /product="phosphorylase b kinase regulatory subunit beta
                     isoform a"
                     /protein_id="NP_000284.1"
                     /db_xref="CCDS:CCDS10729.1"
                     /db_xref="GeneID:5257"
                     /db_xref="HGNC:HGNC:8927"
                     /db_xref="MIM:172490"
                     /translation="MAGAAGLTAEVSWKVLERRARTKRSGSVYEPLKSINLPRPDNETL
                     WDKLDHYYRIVKSTLLLYQSPTTGLFPTKTCGGDQKAKIQDSLYCAAGAWALALAYRRI
                     DDDKGRTHELEHSAIKCMRGILYCYMRQADKVQQFKQDPRPTTCLHSVFNVHTGDELLS
                     YEEYGHLQINAVSLYLLYLVEMISSGLQIIYNTDEVSFIQNLVFCVERVYRVPDFGVWE
                     RGSKYNNGSTELHSSSVGLAKAALEAINGFNLFGNQGCSWSVIFVDLDAHNRNRQTLCS
                     LLPRESRSHNTDAALLPCISYPAFALDDEVLFSQTLDKVVRKLKGKYGFKRFLRDGYRT
                     SLEDPNRCYYKPAEIKLFDGIECEFPIFFLYMMIDGVFRGNPKQVQEYQDLLTPVLHHT
                     TEGYPVVPKYYYVPADFVEYEKNNPGSQKRFPSNCGRDGKLFLWGQALYIIAKLLADEL
                     ISPKDIDPVQRYVPLKDQRNVSMRFSNQGPLENDLVVHVALIAESQRLQVFLNTYGIQT
                     QTPQQVEPIQIWPQQELVKAYLQLGINEKLGLSGRPDRPIGCLGTSKIYRILGKTVVCY
                     PIIFDLSDFYMSQDVFLLIDDIKNALQFIKQYWKMHGRPLFLVLIREDNIRGSRFNPIL
                     DMLAALKKGIIGGVKVHVDRLQTLISGAVVEQLDFLRISDTEELPEFKSFEELEPPKHS
                     KVKRQSSTPSAPELGQQPDVNISEWKDKPTHEILQKLNDCSCLASQAILLGILLKREGP
                     NFITKEGTVSDHIERVYRRAGSQKLWLAVRYGAAFTQKFSSSIAPHITTFLVHGKQVTL
                     GAFGHEEEVISNPLSPRVIQNIIYYKCNTHDEREAVIQQELVIHIGWIISNNPELFSGM
                     LKIRIGWIIHAMEYELQIRGGDKPALDLYQLSPSEVKQLLLDILQPQQNGRCWLNRRQI
                     DGSLNRTPTGFYDRVWQILERTPNGIIVAGKHLPQQPTLSDMTMYEMNFSLLVEDTLGN
                     IDQPQYRQIVVELLMVVSIVLERNPELEFQDKVDLDRLVKEAFNEFQKDQSRLKEIEKQ
                     DDMTSFYNTPPLGKRGTCSYLTKAVMNLLLEGEVKPNNDDPCLIS"
     misc_feature    24..26
                     /gene="PHKB"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000250|UniProtKB:P12798; N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q93100.3); acetylation site"
     misc_feature    30..32
                     /gene="PHKB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q93100.3); phosphorylation site"
     misc_feature    39..107
                     /gene="PHKB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q93100.3);
                     Region: Calmodulin-binding. /evidence=ECO:0000255"
     misc_feature    54..56
                     /gene="PHKB"
                     /note="Phosphoserine, by autocatalysis.
                     /evidence=ECO:0000250|UniProtKB:P12798; propagated from
                     UniProtKB/Swiss-Prot (Q93100.3); phosphorylation site"
     misc_feature    99..101
                     /gene="PHKB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q93100.3);
                     phosphorylation site"
     misc_feature    2085..2168
                     /gene="PHKB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q93100.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2121..2123
                     /gene="PHKB"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P12798; propagated from
                     UniProtKB/Swiss-Prot (Q93100.3); phosphorylation site"
     misc_feature    2322..2405
                     /gene="PHKB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q93100.3);
                     Region: Calmodulin-binding. /evidence=ECO:0000255"
     misc_feature    2778..2873
                     /gene="PHKB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q93100.3);
                     Region: Calmodulin-binding. /evidence=ECO:0000255"
     regulatory      3661..3666
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHKB"
                     /note="hexamer: AATAAA"
     polyA_site      3677
                     /gene="PHKB"
     regulatory      3915..3920
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHKB"
                     /note="hexamer: AATAAA"
     polyA_site      3938
                     /gene="PHKB"
                     /note="major polyA site"
     regulatory      4376..4381
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHKB"
                     /note="hexamer: ATTAAA"
     polyA_site      4398
                     /gene="PHKB"
     regulatory      5436..5441
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHKB"
                     /note="hexamer: AGTAAA"
     polyA_site      5459
                     /gene="PHKB"
ORIGIN
        1 aaggcggcga ccggagcgcg atggcggggg cggcgggact cacggcagaa gtgagctgga
       61 aggtcttgga gcgaagagct cggaccaagc gctcaggctc agtttatgaa cctcttaaaa
      121 gcattaatct tccaagacct gataatgaaa ctctctggga taagttggac cattattaca
      181 gaattgtcaa gtcaacattg ctgctgtatc aaagtccaac taccggtctc tttcccacta
      241 aaacatgcgg tggtgaccag aaggccaaga tccaggacag cctatactgc gctgctgggg
      301 cctgggcttt ggctcttgca tacaggcgaa ttgatgatga caagggaagg acccatgagc
      361 tggagcactc agctataaaa tgcatgagag gaattctcta ctgctatatg cgtcaggccg
      421 ataaggtcca gcagtttaag caggatccac gcccaacaac atgtcttcac tctgttttca
      481 atgtgcatac aggagatgag ttgctttcct atgaggaata tggtcatctt cagataaatg
      541 cagtgtcact ttatctcctt taccttgtgg aaatgatttc ctcaggactc cagattatct
      601 acaacactga tgaggtctct tttattcaaa accttgtatt ttgtgtggaa agagtttacc
      661 gtgtgcctga ctttggtgtc tgggaaagag gaagcaaata taataatggc agcacagagc
      721 tacattcgag ctcggttggt ttagcaaaag cagctctaga agcaattaat ggattcaacc
      781 tttttggcaa ccagggctgt tcgtggtcag ttatatttgt ggatctcgat gctcacaatc
      841 gcaacaggca aactttgtgc tcgctgttac ccagagaatc aagatcacat aatacagatg
      901 ctgccctgct cccctgcatc agttatcctg catttgccct ggatgatgaa gttcttttta
      961 gccagacact tgataaagtg gttagaaaat taaaaggaaa atatggattt aaacgtttct
     1021 tgagagatgg gtatagaaca tcattggaag atcccaacag atgctactac aagccagctg
     1081 aaattaagct atttgatggc attgaatgtg aatttcccat atttttcctt tatatgatga
     1141 ttgatggagt ttttagaggc aatcctaagc aagtacagga atatcaggat cttttgactc
     1201 cagtacttca tcataccaca gaaggatatc ctgttgtacc aaagtactat tatgtgccag
     1261 ctgactttgt agaatatgaa aaaaataacc ctggtagtca aaaacgattt cctagcaact
     1321 gtggccgtga tggaaaactg tttctttggg gacaagcact ttatatcatc gcaaaactcc
     1381 tggctgatga acttattagt cctaaagaca ttgatcctgt ccagcgctat gtcccactaa
     1441 aggatcaacg taacgtgagc atgaggtttt ccaatcaggg cccactggaa aatgacttgg
     1501 tagttcatgt ggcacttata gcagaaagcc aaagacttca agtttttctg aacacatatg
     1561 gtattcaaac tcaaactcct caacaagtag aacccattca gatatggcct cagcaggagc
     1621 ttgtgaaagc ttatttgcag ctgggtatca atgaaaagtt aggactctct ggaaggccag
     1681 acaggcccat tggctgcctc gggacatcaa agatttatcg cattctagga aagactgtgg
     1741 tttgttaccc gattattttc gacctaagtg atttctacat gtctcaggat gttttcctgc
     1801 tgatagatga cataaagaat gcgctgcagt tcattaaaca atattggaaa atgcatggac
     1861 gtccactttt ccttgttctc atccgggaag acaatataag aggtagccgg ttcaacccca
     1921 tattagatat gctggcagcc cttaaaaaag gaataattgg aggagtcaaa gttcatgtgg
     1981 atcgtctaca gacactaata tctggagctg tggtagaaca acttgatttc ctacgaatca
     2041 gtgacacaga agagcttcca gaatttaaga gttttgagga actagaacct cccaaacatt
     2101 caaaagtcaa acggcaaagc agcaccccta gtgctcctga actgggacag cagccggatg
     2161 tcaacattag tgaatggaag gacaaaccca cccacgaaat tcttcaaaaa ctgaatgatt
     2221 gcagttgtct ggctagccaa gccatcctgc tgggtatact gctcaaaaga gaaggcccca
     2281 acttcatcac aaaggaaggt accgtttctg atcacattga gagagtctat agaagagctg
     2341 gcagccaaaa actttggttg gcggtgcgct acggggctgc atttacccag aaattttctt
     2401 cctctatagc cccacacatt actacttttc tggtacatgg gaaacaggta actctgggtg
     2461 cctttgggca tgaagaagaa gttatctcta atcctttgtc tccaagagtg attcaaaaca
     2521 tcatctatta taagtgtaac acccatgatg agagggaagc ggtcattcag caagaactgg
     2581 tcatccatat tggctggatc atctccaata accctgagtt attcagtggc atgctgaaaa
     2641 tacgaatcgg gtggatcatc catgccatgg agtatgaact tcagatccgt ggcggagaca
     2701 agccagcctt ggacttgtat cagctgtcac ctagtgaagt taaacagctt ctgctggata
     2761 ttctgcagcc tcaacagaat ggaagatgtt ggctgaacag gcgtcagatc gatgggtctt
     2821 tgaatagaac tcccaccggg ttctatgacc gagtgtggca gattctggag cgcacgccca
     2881 atgggatcat tgttgctggg aagcatttgc ctcagcaacc aaccctgtca gatatgacca
     2941 tgtatgagat gaatttctct ctccttgttg aagacacgtt gggaaatatt gaccagccac
     3001 agtacagaca gatcgttgta gagttactta tggttgtatc cattgtactg gaaagaaacc
     3061 ccgagctaga atttcaagac aaagtagatc tagacagact ggtcaaagaa gcatttaatg
     3121 aatttcaaaa agatcagagt cggctaaagg aaattgaaaa acaagatgac atgacttcct
     3181 tttacaacac tcctcccctg ggaaaaagag gaacatgcag ctatttgaca aaggcggtga
     3241 tgaatctgct gctggaagga gaagtcaagc caaacaatga tgacccgtgt ctgattagct
     3301 agtggggaag gtgtaggaag ctctgttgag acacatgttc tgaagtgtgt tgtgtttcat
     3361 gttcaagctt aatcaaggca gccattaata tacgaactga gcatgctggg gaggtgaatg
     3421 ccacatcctt ggcggggtta tggacctctt gcatgtcata gccaatctaa cggtaatggt
     3481 aaatgctttt aatcaagcag gaaaaagttc tcatgattat gccaactata atagtaatcc
     3541 tcactgagtg ataaaaatag tttatgaatt gaaaatttgc cgctgcatgt tgtatgatca
     3601 aatagttcat caaaatgaat ctttgctctt tggactgaat tcttaccata ctgccattaa
     3661 aataaatttg ccaactagta atgcatactg gaaatcaaaa gatactgaaa gaatggtgaa
     3721 cttctcttag tggtattgtc atgctaaaag atgttaatat acatcataaa agcaaagtca
     3781 gccagctgat attttggttc tcaaaaactg cattattaat aatattttag tatacagagc
     3841 tattctacag tttttacatt gtaaacatga ctgtggtttt gtatttgcta aatatagggg
     3901 ttggactaaa atataataaa tctgtacctt atcaaacatt ttctttgagc tcctgctaaa
     3961 aataggacat gtctatgatt gttcaaaaat atgttaaatt taggctcagc acagtagctc
     4021 acacctgaaa tcttagcact tcgggaggct gaggcaggtg gatcacttga ggttaggagt
     4081 tcaagaccag cccagccaac atggtgaaaa ccctgtctct actaaaaata caaaaattag
     4141 ccaggcatga tggtgcatgc ctttaaaccc agctactgag gaggctgagg catgagaatt
     4201 gcttgaacca ggagacggag gttgcagtga gctgaaatcc tgccactgca caccagcctg
     4261 ggtgacagag cgagactcca tctcaaaaaa aaaaaaaaaa aagaaaaaga aaaaaatatg
     4321 ttaaatttaa ggactgttaa cctacgttct actagtaaaa acaacattaa gggtcattaa
     4381 attttatttc tgaattaatg aacatatctg gacatttttt gttcctaggt tcacaagatt
     4441 gagcttcaaa ctcccgagtg ttttcattta attgatttag aggtagaatg gaagagaatc
     4501 tgtggtacct accattatac acatttagtt gcccagttta cttaaacttt aatgaaagta
     4561 gaaagtagat taaacattta aattttattt ctttcctaaa tagaaaaaaa aaaggcccat
     4621 gagtttgagc ccttgcccca aagagagttg tttttctgat caatcttact ggagtttcac
     4681 ctgagaagat agatttgtca cataaaaaat gcagcttatt tgtagtgttt tgaaaggatg
     4741 taagaaagga tgagtggctt cagtattgag tcaatcgata tcaaatgaat ggatgtgtga
     4801 gcacatggaa aaatctgctg tcagtcacat ttctcataac attgaggtac agtgccgaga
     4861 tcttgcataa gaaattgtat ggatattagt tggcaaaatt gaaatgaatg agacacagtt
     4921 gggccctaaa gaactaagga gggggattga caaagaatag aattaaacta cttgactcaa
     4981 tatgttaaga gagtttatga aaagatagtc gtgaagggtg aagctaattt gtaaaactaa
     5041 tgcctgaaaa aaacgtaagc atgaagtcca tggagaggga attgagagct gacacttcat
     5101 aactggagaa actggaaatt aaagaaaggg aaacaaaaga cttaaaattt ttgtttgccg
     5161 aaatttttac gaaagtaaac tgtgttgtag ttttaagaat ttttttaaaa aatctgatta
     5221 gctgagcaaa gttaccagaa aactgctatc ctagttgaaa tcaaacatta cttgcaaatg
     5281 tgttttctga gtgttagctt cctgcttaaa tgttacatat gcaaaattct gaagttttcc
     5341 tgtgctactc ctgaaagcat tcagaatctg tgacacgtat tgacttcatg ctttgagatt
     5401 caaaatttat tgttctgaaa gttatattta gaatcagtaa atcttgatat tcaccttta
//
LOCUS       NM_000294               5384 bp    mRNA    linear   PRI 12-MAY-2023
DEFINITION  Homo sapiens phosphorylase kinase catalytic subunit gamma 2 (PHKG2),
            transcript variant 1, mRNA.
ACCESSION   NM_000294
VERSION     NM_000294.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5384)
  AUTHORS   Zhu W, Liu D, Lu Y, Sun J, Zhu J, Xing Y, Ma X, Wang Y, Ji M and Jia
            Y.
  TITLE     PHKG2 regulates RSL3-induced ferroptosis in Helicobacter pylori
            related gastric cancer
  JOURNAL   Arch Biochem Biophys 740, 109560 (2023)
   PUBMED   36948350
  REMARK    GeneRIF: PHKG2 regulates RSL3-induced ferroptosis in Helicobacter
            pylori related gastric cancer.
REFERENCE   2  (bases 1 to 5384)
  AUTHORS   Waheed N, Saeed A, Ijaz S, Fayyaz Z, Anjum MN, Zahoor Y and Cheema
            HA.
  TITLE     Variability of clinical and biochemical phenotype in liver
            phosphorylase kinase deficiency with variants in the phosphorylase
            kinase (PHKG2) gene
  JOURNAL   J Pediatr Endocrinol Metab 33 (9), 1117-1123 (2020)
   PUBMED   32697758
  REMARK    GeneRIF: Variability of clinical and biochemical phenotype in liver
            phosphorylase kinase deficiency with variants in the phosphorylase
            kinase (PHKG2) gene.
REFERENCE   3  (bases 1 to 5384)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   4  (bases 1 to 5384)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 5384)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 5384)
  AUTHORS   Huang CY, Yuan CJ, Livanova NB and Graves DJ.
  TITLE     Expression, purification, characterization, and deletion mutations
            of phosphorylase kinase gamma subunit: identification of an
            inhibitory domain in the gamma subunit
  JOURNAL   Mol Cell Biochem 127-128, 7-18 (1993)
   PUBMED   7935363
REFERENCE   7  (bases 1 to 5384)
  AUTHORS   Herbert,M., Goldstein,J.L., Rehder,C., Austin,S., Kishnani,P.S. and
            Bali,D.S.
  TITLE     Phosphorylase Kinase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   21634085
REFERENCE   8  (bases 1 to 5384)
  AUTHORS   Hanks SK.
  TITLE     Messenger ribonucleic acid encoding an apparent isoform of
            phosphorylase kinase catalytic subunit is abundant in the adult
            testis
  JOURNAL   Mol Endocrinol 3 (1), 110-116 (1989)
   PUBMED   2915644
REFERENCE   9  (bases 1 to 5384)
  AUTHORS   Hanks,S.K.
  TITLE     Homology probing: identification of cDNA clones encoding members of
            the protein-serine kinase family
  JOURNAL   Proc Natl Acad Sci U S A 84 (2), 388-392 (1987)
   PUBMED   2948189
REFERENCE   10  (bases 1 to 5384)
  AUTHORS   Sovik,O., deBarsy,T. and Maehle,B.
  TITLE     Phosphorylase kinase deficiency: severe glycogen storage disease
            with evidence of autosomal recessive mode of inheritance
  JOURNAL   Eur J Pediatr 139 (3), 210 (1982)
   PUBMED   6962066
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.76650.1,
            SRR1803615.213690.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000563588.6/ ENSP00000455607.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC106886.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000294.2.
            Summary: Phosphorylase kinase is a polymer of 16 subunits, four
            each of alpha, beta, gamma and delta. The alpha subunit includes
            the skeletal muscle and hepatic isoforms, encoded by two different
            genes. The beta subunit is the same in both the muscle and hepatic
            isoforms, and encoded by one gene. The gamma subunit also includes
            the skeletal muscle and hepatic isoforms, and the hepatic isoform
            is encoded by this gene. The delta subunit is a calmodulin and can
            be encoded by three different genes. The gamma subunits contain the
            active site of the enzyme, whereas the alpha and beta subunits have
            regulatory functions controlled by phosphorylation. The delta
            subunit mediates the dependence of the enzyme on calcium
            concentration. Mutations in this gene cause glycogen storage
            disease type 9C, also known as autosomal liver glycogenosis.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified in this gene.[provided by RefSeq, Feb
            2010].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5384
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..5384
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /note="phosphorylase kinase catalytic subunit gamma 2"
                     /db_xref="GeneID:5261"
                     /db_xref="HGNC:HGNC:8931"
                     /db_xref="MIM:172471"
     CDS             85..1305
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /EC_number="2.7.11.19"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Phosphorylase kinase, gamma 2 (testis/liver); phosphorylase
                     kinase gamma subunit 2; PSK-C3; PHK-gamma-T; phosphorylase
                     kinase, gamma 2 (testis); phosphorylase kinase subunit
                     gamma-2; serine/threonine-protein kinase PHKG2;
                     PHK-gamma-LT"
                     /codon_start=1
                     /product="phosphorylase b kinase gamma catalytic chain,
                     liver/testis isoform isoform 1"
                     /protein_id="NP_000285.1"
                     /db_xref="CCDS:CCDS10690.1"
                     /db_xref="GeneID:5261"
                     /db_xref="HGNC:HGNC:8931"
                     /db_xref="MIM:172471"
                     /translation="MTLDVGPEDELPDWAAAKEFYQKYDPKDVIGRGVSSVVRRCVHRA
                     TGHEFAVKIMEVTAERLSPEQLEEVREATRRETHILRQVAGHPHIITLIDSYESSSFMF
                     LVFDLMRKGELFDYLTEKVALSEKETRSIMRSLLEAVSFLHANNIVHRDLKPENILLDD
                     NMQIRLSDFGFSCHLEPGEKLRELCGTPGYLAPEILKCSMDETHPGYGKEVDLWACGVI
                     LFTLLAGSPPFWHRRQILMLRMIMEGQYQFSSPEWDDRSSTVKDLISRLLQVDPEARLT
                     AEQALQHPFFERCEGSQPWNLTPRQRFRVAVWTVLAAGRVALSTHRVRPLTKNALLRDP
                     YALRSVRHLIDNCAFRLYGHWVKKGEQQNRAALFQHRPPGPFPIMGPEEEGDSAAITED
                     EAVLVLG"
     misc_feature    1000..1074
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /note="propagated from UniProtKB/Swiss-Prot (P15735.1);
                     Region: Calmodulin-binding (domain-N).
                     /evidence=ECO:0000250"
     misc_feature    1117..1119
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P15735.1); phosphorylation site"
     misc_feature    1120..1194
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /note="propagated from UniProtKB/Swiss-Prot (P15735.1);
                     Region: Calmodulin-binding (domain-C).
                     /evidence=ECO:0000250"
     regulatory      1546..1551
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /note="hexamer: AATAAA"
     polyA_site      1570
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /note="major polyA site"
     regulatory      5358..5363
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
                     /note="hexamer: AATAAA"
     polyA_site      5384
                     /gene="PHKG2"
                     /gene_synonym="GSD9C"
ORIGIN
        1 gactgcaggc aaacccggcg acagcgcagc tcgcgtcgac cctggctcct ctgcctgccc
       61 cctcaggccc ccgcctcctt caggatgacg ctggacgtgg ggccggagga tgagctgccc
      121 gactgggccg ccgccaaaga gttttaccag aagtacgacc ctaaggacgt catcggcaga
      181 ggagtgagct ctgtggtccg ccgttgtgtt catcgagcta ctggccacga gtttgcggtg
      241 aagattatgg aagtgacagc tgagcggctg agtcctgagc agctggagga ggtgcgggaa
      301 gccacacggc gagagacaca catccttcgc caggtcgccg gccaccccca catcatcacc
      361 ctcatcgatt cctacgagtc ttctagcttc atgttcctgg tgtttgacct gatgcggaag
      421 ggagagctgt ttgactatct cacagagaag gtggccctct ctgaaaagga aaccaggtcc
      481 atcatgcggt ctctgctgga agcagtgagc tttctccatg ccaacaacat tgtgcatcga
      541 gatctgaagc ccgagaatat tctcctagat gacaatatgc agatccgact ttcagatttc
      601 gggttctcct gccacttgga acctggcgag aagcttcgag agttgtgtgg gaccccaggg
      661 tatctagcgc cagagatcct taaatgctcc atggatgaaa cccacccagg ctatggcaag
      721 gaggtcgacc tctgggcctg tggggtgatc ttgttcacac tcctggctgg ctcgccaccc
      781 ttctggcacc ggcggcagat cctgatgtta cgcatgatca tggagggcca gtaccagttc
      841 agttcccccg agtgggatga ccgttccagc actgtcaaag acctgatctc caggctgctg
      901 caggtggatc ctgaggcacg cctgacagct gagcaggccc tacagcaccc cttctttgag
      961 cgttgtgaag gcagccaacc ctggaacctc accccccgcc agcggttccg ggtggcagtg
     1021 tggacagtgc tggctgctgg acgagtggcc ctaagcaccc atcgtgtacg gccactgacc
     1081 aagaatgcac tgttgaggga cccttatgcg ctgcggtcag tgcggcacct catcgacaac
     1141 tgtgccttcc ggctctacgg gcactgggta aagaaagggg agcagcagaa ccgggcggct
     1201 ctctttcagc accggccccc tgggcctttt cccatcatgg gccctgaaga ggagggagac
     1261 tctgctgcta taactgagga tgaggccgtg cttgtgctgg gctaggacct caaccccagg
     1321 gattcccagg aagcagaact ctccagaaga agggttttga tcattccagc tcctctgggc
     1381 tctggcctct ggcctcaggc ccactaatga tcctgctacc ctcttgaaga ccagcccggt
     1441 acctctctcc ccactggcca ggactctgag atcagagctg gggtggaagg gagccattct
     1501 gaacgccacg cctggcccgg tcagtgctgc atgcactgca tatgaaataa aatctgctac
     1561 acgccaggga gaacaggtgt cctgtgtctg tctggcttgg gcaggaaagc ccagaaggtg
     1621 ctcagcaggg tgcagggatg gtgccattct ggcccagacc tttattgggg aaaatgttgg
     1681 gggtcacttg gtcttgctct tgcctttacc cggaggtagc tggaagggcc gctctagtgc
     1741 agtcaacttg ctgctgagcc tttcctcgct ggccttgagc cgctcctcca ccagcccctg
     1801 gagctgctcc agctctttgt tcacttgggt cttgatgtag gctcggagga cgtggatgtg
     1861 gcctgcaggg gcagggaaga aggggcaggg tgaggagaga tgctgtctgg caatgggggg
     1921 atggtcccta gttgggcaaa cagtccccaa atttcccctg gtggggatat agaggtagca
     1981 atgttgtttc cctttaggaa atgttagcaa gcccttgtgt gagaggtagt tgggtagggt
     2041 ggctatgctg gactttgcag cttcaaattc tgatccctac tcagtagctg tgtgacctta
     2101 ggcaggttat ttaacctatc tgtgcctcag tttccttgta tgaaatgtgg atagtgatac
     2161 ctagcacata ggattgaggg aggattaaat gagttaattt atgtaaaatg cttagagcag
     2221 ggcatgcact gcacacctat tgccaagtat gtgctggctg ttattgtcat tggctttctc
     2281 tttttttttt tttttttgag atggagtctt gctttatccc ccaggctgga gtgcagtggc
     2341 agcgatctca gctcactgca agctctgcct cccaggttca tgccattctc ctgcctcagc
     2401 ctcccagtag ctgggactac aggcacccgc caccacgccc ggctaacttt ttgtattttt
     2461 agtagagacg gggtttcaca gtgttagcca ggatggactc gatctcctga cctcgtgatc
     2521 cgcctgcctc agcctcccaa agtgctggga ttacagttgt gagccactgc acctggcctg
     2581 ttctttgttt ttttttaact cttaagttct gggatacgag cagaacatgc aggtttgcta
     2641 cgtaggtata catgggccat ggtggtttgc tttacccatc aacccatcat ataggtttta
     2701 agccaccgtc attggctttc taatgatcat ttctctggag ccacttcagc tgtgcttttt
     2761 gtttgtttgt ttgtttgttt tgagacagag tcttgctctg ttgcccaggc tggagtgcag
     2821 tggccagatc ttggctcact gcagtctcca cctcctgggt tcatgcagtt ctcctgcctc
     2881 agcctcctga gtagctggga ctacaagcgc gcaccaccat gcctggctat tttttgtatt
     2941 ttagtagata gggggtttca cggtgttgcc caggctggtc gcgaactcct gagctcaggc
     3001 aatccgcctg cctcagattg tgctgggatt acaggtgtga gccaccacgc ctggcctgca
     3061 gctgtgcttt tatctgtcat cttggacttc tgcataaggg atcatttaga gaaaggactc
     3121 tgactaaaaa caaaaagtct gaagtcctga tgtcatccaa acccttcatt ctacacctgc
     3181 tcagagggac agggcagcct gccctctcca gatcctcact tggctctggc tctggtgggg
     3241 ccactgtctc tagttcctct ttctgcgggg taactgcctg ctcctccatc tccttgcttt
     3301 cttctttctc tgcaaaccag aagcaggaag agactgtggc cccaggcctg gcccagccca
     3361 gccctgccct ggcactctcc cttacccgtc tcactctctg gccacagttt gggtggctgt
     3421 agccccatgt aagtcaaaga cagatccagc cgcacctggg aagcaaggca gagggaggct
     3481 gaaaggagtg cacctgtgct gaggggaggg gcggttgagg gtggctcctc atggtccacc
     3541 accccctacc tggggtgtga agacgtattt atagagcttg aagtggcgga agtaagtgtt
     3601 gaccacgtag tcttccaagg ccagcagctg ttcctctttg aagaggtcga tgctgaaagg
     3661 aggccgctgt ggtggtgact cggaattaga accctgacta ccttccggag ccctggcttt
     3721 gcctccaaaa gcccagcaac aggagcaagg agagcccact ggggtcttca caagaagata
     3781 agggtgatga atgtgagaga gactgggtga gaccttgtct ggggatgggt aaagtttcca
     3841 gaatgttcca ggggaactga ccctgactcc atggcaaaaa aggacactgg tgaagtagcg
     3901 gtagcactcc tccacgttgc ccaagggggt tgctggtagg gaaagcaaga tgcagcagtg
     3961 aggccctctc tggtatccat tcattcactt cactcaacag ctgtttatga ccatgagctt
     4021 cagaagcaga cagatctggg tttcagcact ggcttgtttc cttaactcat gtaacaaata
     4081 ctgaataccc actatatgcc cactgtatgg ttttcggcac tgaacaagac agacaaggtc
     4141 ctgcccttac gaagcttata ttctagggga ataaaccaag aaatagatca tttcagctat
     4201 taaacattct gaagcaagag ctattaaaca ttctaaagca ggtgttattg tgcactatgc
     4261 atatatttgc atatattatt tctcagaaca gtcctgtaaa atgtgtgctg tatccttaat
     4321 ttctagataa ggaagcagtg gattggaaag ctgatggctt gtgtatgatg atgctactaa
     4381 taatgacata ttccaggcag aaatcccctg cttctgcttc ccatggtcac ttgtgccagg
     4441 cccggttcct cttctccctg gggctcaaac ctggtagctg ccccctctca ccaatacaag
     4501 ccttgtgaag atcctggagc agggcacaag ccgctgacgt ctgctccagt gagaagccct
     4561 gctggcggca gaaaatgagc gcgtggcaga agaggtccag ggtgatggcg tccctcaggc
     4621 tctgctcagg acaccctagc tccagcagct cagccagcac ccttgggagg gagagaggag
     4681 tgagtgacaa ctgggcctcc tttcatcacc ctacacccac cacatgcttt ggagtcagcc
     4741 attcctcatg ttttcccaac ctgacccctc agcctttgcc aagagctctt cccacgcccc
     4801 cctcagtccc tactccctca tctcagcatt ggtggtcttc tccagctggt gcatggaatg
     4861 gacgtccagg tacttcctgt tatagtaaaa gaaaaagagt attggtggcc gttacctatc
     4921 atgacaaggc tgtgacagct agtgcgtgag actgggagtt ggccaccggc gtgaagctgg
     4981 gctcttttgc cagcttgctg tgtgactatg caaatcgtta actctctggg cctaaatgaa
     5041 ctcttatgag cctctccatt tctaaagcct agggttagga atcttgaatt cttttttctg
     5101 ctctgccact accttgtatg accttggtca agtactccct gtggccctca gtgtccccct
     5161 ctgtacaata ctccttagcg gccatgagac tccatttaca ttctgtcttt ggctcttttt
     5221 ttctcacact gcctcctctt tggactggag aggctggaaa gccaacttcc agtcacctgg
     5281 agtaattgca tctccaggcc tcagtctcat ctgtaaaatg gggatgccct ggccacagac
     5341 aggactgttg gggagacaat aaagaacgca aatattcagt gtaa
//
LOCUS       NM_000295               3006 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens serpin family A member 1 (SERPINA1), transcript variant
            1, mRNA.
ACCESSION   NM_000295
VERSION     NM_000295.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3006)
  AUTHORS   D'Amato M, Campagnoli M, Iadarola P, Bignami PM, Fumagalli M,
            Chiarelli LR, Stelitano G, Meloni F, Linciano P, Collina S,
            Pietrocola G, Vertui V, Aliberti A, Fossali T and Viglio S.
  TITLE     Could the Oxidation of alpha1-Antitrypsin Prevent the Binding of
            Human Neutrophil Elastase in COVID-19 Patients?
  JOURNAL   Int J Mol Sci 24 (17), 13533 (2023)
   PUBMED   37686340
  REMARK    GeneRIF: Could the Oxidation of alpha1-Antitrypsin Prevent the
            Binding of Human Neutrophil Elastase in COVID-19 Patients?
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3006)
  AUTHORS   Stockley RA, Pye A, De Soyza J, Turner AM and Miravitlles M.
  CONSRTM   EARCO study investigators
  TITLE     The prevalence of bronchiectasis in patients with alpha-1
            antitrypsin deficiency: initial report of EARCO
  JOURNAL   Orphanet J Rare Dis 18 (1), 243 (2023)
   PUBMED   37573351
  REMARK    GeneRIF: The prevalence of bronchiectasis in patients with alpha-1
            antitrypsin deficiency: initial report of EARCO. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 3006)
  AUTHORS   Kuai X, Lv J, Zhang J, Xu M and Ji J.
  TITLE     Serpin Family A Member 1 Is Prognostic and Involved in Immunological
            Regulation in Human Cancers
  JOURNAL   Int J Mol Sci 24 (14), 11566 (2023)
   PUBMED   37511325
  REMARK    GeneRIF: Serpin Family A Member 1 Is Prognostic and Involved in
            Immunological Regulation in Human Cancers. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3006)
  AUTHORS   Meseeha,M. and Attia,M.
  TITLE     Alpha-1 Antitrypsin Deficiency
  JOURNAL   (in) ? (Ed.); STATPEARLS; (2023)
   PUBMED   28723059
REFERENCE   5  (bases 1 to 3006)
  AUTHORS   Manne V and Kowdley KV.
  TITLE     Alpha1-Antitrypsin Deficiency: A Cause of Chronic Liver Disease
  JOURNAL   Clin Liver Dis 24 (3), 483-492 (2020)
   PUBMED   32620284
  REMARK    Review article
REFERENCE   6  (bases 1 to 3006)
  AUTHORS   Cortes-Lopez R and Barjaktarevic I.
  TITLE     Alpha-1 Antitrypsin Deficiency: a Rare Disease?
  JOURNAL   Curr Allergy Asthma Rep 20 (9), 51 (2020)
   PUBMED   32572624
  REMARK    Review article Erratum:[Curr Allergy Asthma Rep. 2020 Sep
            12;20(11):71. PMID: 32918642] Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3006)
  AUTHORS   Stoller,J.K., Hupertz,V. and Aboussouan,L.S.
  TITLE     Alpha-1 Antitrypsin Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301692
REFERENCE   8  (bases 1 to 3006)
  AUTHORS   Niemann MA, Narkates AJ and Miller EJ.
  TITLE     Isolation and serine protease inhibitory activity of the 44-residue,
            C-terminal fragment of alpha 1-antitrypsin from human placenta
  JOURNAL   Matrix 12 (3), 233-241 (1992)
   PUBMED   1406456
REFERENCE   9  (bases 1 to 3006)
  AUTHORS   Nachman,R.L. and Harpel,P.C.
  TITLE     Platelet alpha2-macroglobulin and alpha1-antitrypsin
  JOURNAL   J Biol Chem 251 (15), 4512-4521 (1976)
   PUBMED   59727
REFERENCE   10  (bases 1 to 3006)
  AUTHORS   Cohen,A.B.
  TITLE     The interaction of alpha-1-antitrypsin with chymotrypsin, trypsin
            and elastase
  JOURNAL   Biochim Biophys Acta 391 (1), 193-200 (1975)
   PUBMED   1079736
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.14457.1,
            SRR5189664.74771.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000393087.9/ ENSP00000376802.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA966896.1, AK026174.1 and
            AL132708.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000295.4.
            Summary: The protein encoded by this gene is a serine protease
            inhibitor belonging to the serpin superfamily whose targets include
            elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen
            activator. This protein is produced in the liver, the bone marrow,
            by lymphocytic and monocytic cells in lymphoid tissue, and by the
            Paneth cells of the gut. Defects in this gene are associated with
            chronic obstructive pulmonary disease, emphysema, and chronic liver
            disease. Several transcript variants encoding the same protein have
            been found for this gene. [provided by RefSeq, Aug 2020].
            Transcript Variant: This variant (1) encodes the same protein as
            the other ten variants of this gene.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3006
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.13"
     gene            1..3006
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="serpin family A member 1"
                     /db_xref="GeneID:5265"
                     /db_xref="HGNC:HGNC:8941"
                     /db_xref="MIM:107400"
     CDS             48..1304
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="protease inhibitor 1 (anti-elastase),
                     alpha-1-antitrypsin; serpin peptidase inhibitor, clade A
                     (alpha-1 antiproteinase, antitrypsin), member 1; alpha-1
                     antitrypsin; serine (or cysteine) proteinase inhibitor,
                     clade A, member 1; alpha-1 proteinase inhibitor; serpin A1;
                     epididymis secretory sperm binding protein;
                     alpha-1-antiproteinase; alpha-1 protease inhibitor; serpin
                     peptidase inhibitor clade A member 1; serpin peptidase
                     inhibitor clade A (alpha-1antiproteinase, antitrypsin)
                     member 1"
                     /codon_start=1
                     /product="alpha-1-antitrypsin precursor"
                     /protein_id="NP_000286.3"
                     /db_xref="CCDS:CCDS9925.1"
                     /db_xref="GeneID:5265"
                     /db_xref="HGNC:HGNC:8941"
                     /db_xref="MIM:107400"
                     /translation="MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHP
                     TFNKITPNLAEFAFSLYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGL
                     NFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKKLYH
                     SEAFTVNFGDTEEAKKQINDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPF
                     EVKDTEEEDFHVDQVTTVKVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDE
                     GKLQHLENELTHDIITKFLENEDRRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGA
                     DLSGVTEEAPLKLSKAVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMI
                     EQNTKSPLFMGKVVNPTQK"
     sig_peptide     48..119
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     120..1301
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /product="alpha-1-antitrypsin"
     misc_feature    159..161
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P01009.3); phosphorylation site"
     misc_feature    255..257
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:14760718, ECO:0000269|PubMed:15084671,
                     ECO:0000269|PubMed:16263699, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:16622833, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19838169, ECO:0000269|PubMed:22171320;
                     propagated from UniProtKB/Swiss-Prot (P01009.3);
                     glycosylation site"
     misc_feature    366..368
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:16622833, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19838169;
                     propagated from UniProtKB/Swiss-Prot (P01009.3);
                     glycosylation site"
     misc_feature    858..860
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:14760718, ECO:0000269|PubMed:15084671,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:16622833,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19838169, ECO:0000269|PubMed:22171320;
                     propagated from UniProtKB/Swiss-Prot (P01009.3);
                     glycosylation site"
     misc_feature    1101..1106
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="(Microbial infection) Cleavage, by Staphylococcus
                     aureus aureolysin/Aur.
                     /evidence=ECO:0000269|PubMed:3533918; propagated from
                     UniProtKB/Swiss-Prot (P01009.3); other site"
     misc_feature    1107..1112
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="(Microbial infection) Cleavage, by Staphylococcus
                     aureus serine and cysteine proteinases.
                     /evidence=ECO:0000269|PubMed:3533918; propagated from
                     UniProtKB/Swiss-Prot (P01009.3); other site"
     misc_feature    1149..1223
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="propagated from UniProtKB/Swiss-Prot (P01009.3);
                     Region: RCL"
     mat_peptide     1170..1301
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /product="Short peptide from AAT. /id=PRO_0000364030"
                     /note="propagated from UniProtKB/Swiss-Prot (P01009.3)"
     misc_feature    1191..1196
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="Reactive bond; propagated from UniProtKB/Swiss-Prot
                     (P01009.3); other site"
     misc_feature    1194..1196
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P01009.3); phosphorylation site"
     regulatory      1360..1365
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="hexamer: ATTAAA"
     polyA_site      1380
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="major polyA site"
     regulatory      2982..2987
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
                     /note="hexamer: AATAAA"
     polyA_site      3006
                     /gene="SERPINA1"
                     /gene_synonym="A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1;
                     PRO2275"
ORIGIN
        1 ctcctcagct tcaggcacca ccactgacct gggacagtga atcgacaatg ccgtcttctg
       61 tctcgtgggg catcctcctg ctggcaggcc tgtgctgcct ggtccctgtc tccctggctg
      121 aggatcccca gggagatgct gcccagaaga cagatacatc ccaccatgat caggatcacc
      181 caaccttcaa caagatcacc cccaacctgg ctgagttcgc cttcagccta taccgccagc
      241 tggcacacca gtccaacagc accaatatct tcttctcccc agtgagcatc gctacagcct
      301 ttgcaatgct ctccctgggg accaaggctg acactcacga tgaaatcctg gagggcctga
      361 atttcaacct cacggagatt ccggaggctc agatccatga aggcttccag gaactcctcc
      421 gtaccctcaa ccagccagac agccagctcc agctgaccac cggcaatggc ctgttcctca
      481 gcgagggcct gaagctagtg gataagtttt tggaggatgt taaaaagttg taccactcag
      541 aagccttcac tgtcaacttc ggggacaccg aagaggccaa gaaacagatc aacgattacg
      601 tggagaaggg tactcaaggg aaaattgtgg atttggtcaa ggagcttgac agagacacag
      661 tttttgctct ggtgaattac atcttcttta aaggcaaatg ggagagaccc tttgaagtca
      721 aggacaccga ggaagaggac ttccacgtgg accaggtgac caccgtgaag gtgcctatga
      781 tgaagcgttt aggcatgttt aacatccagc actgtaagaa gctgtccagc tgggtgctgc
      841 tgatgaaata cctgggcaat gccaccgcca tcttcttcct gcctgatgag gggaaactac
      901 agcacctgga aaatgaactc acccacgata tcatcaccaa gttcctggaa aatgaagaca
      961 gaaggtctgc cagcttacat ttacccaaac tgtccattac tggaacctat gatctgaaga
     1021 gcgtcctggg tcaactgggc atcactaagg tcttcagcaa tggggctgac ctctccgggg
     1081 tcacagagga ggcacccctg aagctctcca aggccgtgca taaggctgtg ctgaccatcg
     1141 acgagaaagg gactgaagct gctggggcca tgtttttaga ggccataccc atgtctatcc
     1201 cccccgaggt caagttcaac aaaccctttg tcttcttaat gattgaacaa aataccaagt
     1261 ctcccctctt catgggaaaa gtggtgaatc ccacccaaaa ataactgcct ctcgctcctc
     1321 aacccctccc ctccatccct ggccccctcc ctggatgaca ttaaagaagg gttgagctgg
     1381 tccctgcctg catgtgactg taaatccctc ccatgttttc tctgagtctc cctttgcctg
     1441 ctgaggctgt atgtgggctc caggtaacag tgctgtcttc gggccccctg aactgtgttc
     1501 atggagcatc tggctgggta ggcacatgct gggcttgaat ccagggggga ctgaatcctc
     1561 agcttacgga cctgggccca tctgtttctg gagggctcca gtcttccttg tcctgtcttg
     1621 gagtccccaa gaaggaatca caggggagga accagatacc agccatgacc ccaggctcca
     1681 ccaagcatct tcatgtcccc ctgctcatcc cccactcccc cccacccaga gttgctcatc
     1741 ctgccagggc tggctgtgcc caccccaagg ctgccctcct gggggcccca gaactgcctg
     1801 atcgtgccgt ggcccagttt tgtggcatct gcagcaacac aagagagagg acaatgtcct
     1861 cctcttgacc cgctgtcacc taaccagact cgggccctgc acctctcagg cacttctgga
     1921 aaatgactga ggcagattct tcctgaagcc cattctccat ggggcaacaa ggacacctat
     1981 tctgtccttg tccttccatc gctgccccag aaagcctcac atatctccgt ttagaatcag
     2041 gtcccttctc cccagatgaa gaggagggtc tctgctttgt tttctctatc tcctcctcag
     2101 acttgaccag gcccagcagg ccccagaaga ccattaccct atatcccttc tcctccctag
     2161 tcacatggcc ataggcctgc tgatggctca ggaaggccat tgcaaggact cctcagctat
     2221 gggagaggaa gcacatcacc cattgacccc cgcaacccct ccctttcctc ctctgagtcc
     2281 cgactggggc cacatgcagc ctgacttctt tgtgcctgtt gctgtccctg cagtcttcag
     2341 agggccaccg cagctccagt gccacggcag gaggctgttc ctgaatagcc cctgtggtaa
     2401 gggccaggag agtccttcca tcctccaagg ccctgctaaa ggacacagca gccaggaagt
     2461 cccctgggcc cctagctgaa ggacagcctg ctccctccgt ctctaccagg aatggccttg
     2521 tcctatggaa ggcactgccc catcccaaac taatctagga atcactgtct aaccactcac
     2581 tgtcatgaat gtgtacttaa aggatgaggt tgagtcatac caaatagtga tttcgatagt
     2641 tcaaaatggt gaaattagca attctacatg attcagtcta atcaatggat accgactgtt
     2701 tcccacacaa gtctcctgtt ctcttaagct tactcactga cagcctttca ctctccacaa
     2761 atacattaaa gatatggcca tcaccaagcc ccctaggatg acaccagacc tgagagtctg
     2821 aagacctgga tccaagttct gacttttccc cctgacagct gtgtgacctt cgtgaagtcg
     2881 ccaaacctct ctgagcccca gtcattgcta gtaagacctg cctttgagtt ggtatgatgt
     2941 tcaagttaga taacaaaatg tttataccca ttagaacaga gaataaatag aactacattt
     3001 cttgca
//
LOCUS       NM_000297               5089 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens polycystin 2, transient receptor potential cation
            channel (PKD2), transcript variant 1, mRNA.
ACCESSION   NM_000297
VERSION     NM_000297.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5089)
  AUTHORS   Liu X, Shi X, Xin Q, Liu Z, Pan F, Qiao D, Chen M, Zhang Y, Guo W,
            Li C, Zhang Y, Shao L and Zhang R.
  TITLE     Identified eleven exon variants in PKD1 and PKD2 genes that altered
            RNA splicing by minigene assay
  JOURNAL   BMC Genomics 24 (1), 407 (2023)
   PUBMED   37468838
  REMARK    GeneRIF: Identified eleven exon variants in PKD1 and PKD2 genes that
            altered RNA splicing by minigene assay. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 5089)
  AUTHORS   Wang Y, Wang Z, Pavel MA, Ng C, Kashyap P, Li B, Morais TDC, Ulloa
            GA and Yu Y.
  TITLE     The diverse effects of pathogenic point mutations on ion channel
            activity of a gain-of-function polycystin-2
  JOURNAL   J Biol Chem 299 (5), 104674 (2023)
   PUBMED   37028763
  REMARK    GeneRIF: The diverse effects of pathogenic point mutations on ion
            channel activity of a gain-of-function polycystin-2.
REFERENCE   3  (bases 1 to 5089)
  AUTHORS   Hosseinpour M, Ardalani F, Mohseni M, Beheshtian M, Arzhangi S,
            Ossareh S, Najmabadi H, Nobakht A, Kahrizi K and Broumand B.
  TITLE     Targeted Next Generation Sequencing Revealed Novel Variants in the
            PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant
            Polycystic Kidney Disease
  JOURNAL   Arch Iran Med 25 (9), 600-608 (2022)
   PUBMED   37543885
  REMARK    GeneRIF: Targeted Next Generation Sequencing Revealed Novel Variants
            in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal
            Dominant Polycystic Kidney Disease. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5089)
  AUTHORS   Qian F, Germino FJ, Cai Y, Zhang X, Somlo S and Germino GG.
  TITLE     PKD1 interacts with PKD2 through a probable coiled-coil domain
  JOURNAL   Nat Genet 16 (2), 179-183 (1997)
   PUBMED   9171830
REFERENCE   5  (bases 1 to 5089)
  AUTHORS   Schneider MC, Rodriguez AM, Nomura H, Zhou J, Morton CC, Reeders ST
            and Weremowicz S.
  TITLE     A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for
            PKD2
  JOURNAL   Genomics 38 (1), 1-4 (1996)
   PUBMED   8954772
REFERENCE   6  (bases 1 to 5089)
  AUTHORS   Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris
            JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling WJ,
            Breuning MH, Deltas CC, Peters DJ and Somlo S.
  TITLE     PKD2, a gene for polycystic kidney disease that encodes an integral
            membrane protein
  JOURNAL   Science 272 (5266), 1339-1342 (1996)
   PUBMED   8650545
REFERENCE   7  (bases 1 to 5089)
  AUTHORS   Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R,
            Boersma J, van Eijk R, Norby S, Constantinou-Deltas CD et al.
  TITLE     Chromosome 4 localization of a second gene for autosomal dominant
            polycystic kidney disease
  JOURNAL   Nat Genet 5 (4), 359-362 (1993)
   PUBMED   8298643
REFERENCE   8  (bases 1 to 5089)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301743
REFERENCE   9  (bases 1 to 5089)
  AUTHORS   Harris,P.C. and Torres,V.E.
  TITLE     Polycystic Kidney Disease, Autosomal Dominant
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301424
REFERENCE   10  (bases 1 to 5089)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301299
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U50928.1, BC112261.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000237596.7/ ENSP00000237596.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC084732.1, BC112263.1,
            AF054992.1, AF113693.1 and AW600307.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000297.3.
            Summary: This gene encodes a member of the polycystin protein
            family. The encoded protein is a multi-pass membrane protein that
            functions as a calcium permeable cation channel, and is involved in
            calcium transport and calcium signaling in renal epithelial cells.
            This protein interacts with polycystin 1, and they may be partners
            in a common signaling cascade involved in tubular morphogenesis.
            Mutations in this gene are associated with autosomal dominant
            polycystic kidney disease type 2. [provided by RefSeq, Mar 2011].
            Transcript Variant: This variant (1) represents the longer
            transcript.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5089
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q22.1"
     gene            1..5089
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="polycystin 2, transient receptor potential cation
                     channel"
                     /db_xref="GeneID:5311"
                     /db_xref="HGNC:HGNC:9009"
                     /db_xref="MIM:173910"
     misc_feature    40..42
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="upstream in-frame stop codon"
     CDS             100..3006
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="polycystic kidney disease 2 (autosomal dominant);
                     autosomal dominant polycystic kidney disease type II
                     protein; transient receptor potential cation channel
                     subfamily P member 2"
                     /codon_start=1
                     /product="polycystin-2"
                     /protein_id="NP_000288.1"
                     /db_xref="CCDS:CCDS3627.1"
                     /db_xref="GeneID:5311"
                     /db_xref="HGNC:HGNC:9009"
                     /db_xref="MIM:173910"
                     /translation="MVNSSRVQPQQPGDAKRPPAPRAPDPGRLMAGCAAVGASLAAPGG
                     LCEQRGLEIEMQRIRQAAARDPPAGAAASPSPPLSSCSRQAWSRDNPGFEAEEEEEEVE
                     GEEGGMVVEMDVEWRPGSRRSAASSAVSSVGARSRGLGGYHGAGHPSGRRRRREDQGPP
                     CPSPVGGGDPLHRHLPLEGQPPRVAWAERLVRGLRGLWGTRLMEESSTNREKYLKSVLR
                     ELVTYLLFLIVLCILTYGMMSSNVYYYTRMMSQLFLDTPVSKTEKTNFKTLSSMEDFWK
                     FTEGSLLDGLYWKMQPSNQTEADNRSFIFYENLLLGVPRIRQLRVRNGSCSIPQDLRDE
                     IKECYDVYSVSSEDRAPFGPRNGTAWIYTSEKDLNGSSHWGIIATYSGAGYYLDLSRTR
                     EETAAQVASLKKNVWLDRGTRATFIDFSVYNANINLFCVVRLLVEFPATGGVIPSWQFQ
                     PLKLIRYVTTFDFFLAACEIIFCFFIFYYVVEEILEIRIHKLHYFRSFWNCLDVVIVVL
                     SVVAIGINIYRTSNVEVLLQFLEDQNTFPNFEHLAYWQIQFNNIAAVTVFFVWIKLFKF
                     INFNRTMSQLSTTMSRCAKDLFGFAIMFFIIFLAYAQLAYLVFGTQVDDFSTFQECIFT
                     QFRIILGDINFAEIEEANRVLGPIYFTTFVFFMFFILLNMFLAIINDTYSEVKSDLAQQ
                     KAEMELSDLIRKGYHKALVKLKLKKNTVDDISESLRQGGGKLNFDELRQDLKGKGHTDA
                     EIEAIFTKYDQDGDQELTEHEHQQMRDDLEKEREDLDLDHSSLPRPMSSRSFPRSLDDS
                     EEDDDEDSGHSSRRRGSISSGVSYEEFQVLVRRVDRMEHSIGSIVSKIDAVIVKLEIME
                     RAKLKRREVLGRLLDGVAEDERLGRDSEIHREQMERLVREELERWESDDAASQISHGLG
                     TPVGLNGQPRPRSSRPSSSQSTEGMEGAGGNGSSNVHV"
     misc_feature    100..183
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13563.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    271..642
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13563.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    325..327
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16551655; propagated from
                     UniProtKB/Swiss-Prot (Q13563.3); phosphorylation site"
     misc_feature    337..339
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:16551655; propagated from
                     UniProtKB/Swiss-Prot (Q13563.3); phosphorylation site"
     misc_feature    508..510
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:O35245; propagated from
                     UniProtKB/Swiss-Prot (Q13563.3); methylation site"
     misc_feature    757..822
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13563.3);
                     transmembrane region"
     misc_feature    994..996
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28092368; propagated from
                     UniProtKB/Swiss-Prot (Q13563.3); glycosylation site"
     misc_feature    1012..1014
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28092368; propagated from
                     UniProtKB/Swiss-Prot (Q13563.3); glycosylation site"
     misc_feature    1081..1083
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:27768895, ECO:0000269|PubMed:27991905,
                     ECO:0000269|PubMed:28092368; propagated from
                     UniProtKB/Swiss-Prot (Q13563.3); glycosylation site"
     misc_feature    1183..1185
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:27768895,
                     ECO:0000269|PubMed:27991905, ECO:0000269|PubMed:28092368;
                     propagated from UniProtKB/Swiss-Prot (Q13563.3);
                     glycosylation site"
     misc_feature    1222..1224
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:27768895,
                     ECO:0000269|PubMed:27991905, ECO:0000269|PubMed:28092368;
                     propagated from UniProtKB/Swiss-Prot (Q13563.3);
                     glycosylation site"
     misc_feature    1504..1566
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13563.3);
                     transmembrane region"
     misc_feature    1615..1677
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13563.3);
                     transmembrane region"
     misc_feature    1756..1818
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13563.3);
                     transmembrane region"
     misc_feature    1891..1956
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13563.3);
                     transmembrane region"
     misc_feature    2020..2028
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13563.3);
                     Region: Selectivity filter.
                     /evidence=ECO:0000305|PubMed:28092368"
     misc_feature    2062..2124
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13563.3);
                     transmembrane region"
     misc_feature    2389..2592
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13563.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2500..2502
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:20881056,
                     ECO:0000305|PubMed:16551655; propagated from
                     UniProtKB/Swiss-Prot (Q13563.3); phosphorylation site"
     misc_feature    2506..2565
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13563.3);
                     Region: Linker. /evidence=ECO:0000305|PubMed:18694932"
     misc_feature    2521..2523
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O35245; propagated from
                     UniProtKB/Swiss-Prot (Q13563.3); phosphorylation site"
     misc_feature    2527..2562
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13563.3);
                     Region: Important for interaction with PACS1 and PACS2.
                     /evidence=ECO:0000269|PubMed:15692563"
     misc_feature    2533..2535
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:15692563,
                     ECO:0000305|PubMed:16551655, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13563.3); phosphorylation site"
     misc_feature    2584..2586
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:26269590; propagated from
                     UniProtKB/Swiss-Prot (Q13563.3); phosphorylation site"
     misc_feature    2848..3003
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13563.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      5067..5072
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="hexamer: AATAAA"
     polyA_site      5089
                     /gene="PKD2"
                     /gene_synonym="APKD2; Pc-2; PC2; PKD4; TRPP2"
                     /note="major polyA site"
ORIGIN
        1 aggcggcggc gggcgccggg aagaaaggaa catggctcct gaggcgcaca gcgccgagcg
       61 cggcgccgcg cacccgcgcg ccggacgcca gtgaccgcga tggtgaactc cagtcgcgtg
      121 cagcctcagc agcccgggga cgccaagcgg ccgcccgcgc cccgcgcgcc ggacccgggc
      181 cggctgatgg ctggctgcgc ggccgtgggc gccagcctcg ccgccccggg cggcctctgc
      241 gagcagcggg gcctggagat cgagatgcag cgcatccggc aggcggccgc gcgggacccc
      301 ccggccggag ccgcggcctc cccttctcct ccgctctcgt cgtgctcccg gcaggcgtgg
      361 agccgcgata accccggctt cgaggccgag gaggaggagg aggaggtgga aggggaagaa
      421 ggcggaatgg tggtggagat ggacgtagag tggcgcccgg gcagccggag gtcggccgcc
      481 tcctcggccg tgagctccgt gggcgcgcgg agccgggggc ttgggggcta ccacggcgcg
      541 ggccacccga gcgggaggcg gcgccggcga gaggaccagg gcccgccgtg ccccagccca
      601 gtcggcggcg gggacccgct gcatcgccac ctccccctgg aagggcagcc gccccgagtg
      661 gcctgggcgg agaggctggt tcgcgggctg cgaggtctct ggggaacaag actcatggag
      721 gaaagcagca ctaaccgaga gaaatacctt aaaagtgttt tacgggaact ggtcacatac
      781 ctcctttttc tcatagtctt gtgcatcttg acctacggca tgatgagctc caatgtgtac
      841 tactacaccc ggatgatgtc acagctcttc ctagacaccc ccgtgtccaa aacggagaaa
      901 actaacttta aaactctgtc ttccatggaa gacttctgga agttcacaga aggctcctta
      961 ttggatgggc tgtactggaa gatgcagccc agcaaccaga ctgaagctga caaccgaagt
     1021 ttcatcttct atgagaacct gctgttaggg gttccacgaa tacggcaact ccgagtcaga
     1081 aatggatcct gctctatccc ccaggacttg agagatgaaa ttaaagagtg ctatgatgtc
     1141 tactctgtca gtagtgaaga tagggctccc tttgggcccc gaaatggaac cgcttggatc
     1201 tacacaagtg aaaaagactt gaatggtagt agccactggg gaatcattgc aacttatagt
     1261 ggagctggct attatctgga tttgtcaaga acaagagagg aaacagctgc acaagttgct
     1321 agcctcaaga aaaatgtctg gctggaccga ggaaccaggg caacttttat tgacttctca
     1381 gtgtacaacg ccaacattaa cctgttctgt gtggtcaggt tattggttga attcccagca
     1441 acaggtggtg tgattccatc ttggcaattt cagcctttaa agctgatccg atatgtcaca
     1501 acttttgatt tcttcctggc agcctgtgag attatctttt gtttctttat cttttactat
     1561 gtggtggaag agatattgga aattcgcatt cacaaactac actatttcag gagtttctgg
     1621 aattgtctgg atgttgtgat cgttgtgctg tcagtggtag ctataggaat taacatatac
     1681 agaacatcaa atgtggaggt gctactacag tttctggaag atcaaaatac tttccccaac
     1741 tttgagcatc tggcatattg gcagatacag ttcaacaata tagctgctgt cacagtattt
     1801 tttgtctgga ttaagctctt caaattcatc aattttaaca ggaccatgag ccagctctcg
     1861 acaaccatgt ctcgatgtgc caaagacctg tttggctttg ctattatgtt cttcattatt
     1921 ttcctagcgt atgctcagtt ggcatacctt gtctttggca ctcaggtcga tgacttcagt
     1981 actttccaag agtgtatctt cactcaattc cgtatcattt tgggcgatat caactttgca
     2041 gagattgagg aagctaatcg agttttggga ccaatttatt tcactacatt tgtgttcttt
     2101 atgttcttca ttcttttgaa tatgtttttg gctatcatca atgatactta ctctgaagtg
     2161 aaatctgact tggcacagca gaaagctgaa atggaactct cagatcttat cagaaagggc
     2221 taccataaag ctttggtcaa actaaaactg aaaaaaaata ccgtggatga catttcagag
     2281 agtctgcggc aaggaggagg caagttaaac tttgacgaac ttcgacaaga tctcaaaggg
     2341 aagggccata ctgatgcaga gattgaggca atattcacaa agtacgacca agatggagac
     2401 caagaactga ccgaacatga acatcagcag atgagagacg acttggagaa agagagggag
     2461 gacctggatt tggatcacag ttctttacca cgtcccatga gcagccgaag tttccctcga
     2521 agcctggatg actctgagga ggatgacgat gaagatagcg gacatagctc cagaaggagg
     2581 ggaagcattt ctagtggcgt ttcttacgaa gagtttcaag tcctggtgag acgagtggac
     2641 cggatggagc attccatcgg cagcatagtg tccaagattg acgccgtgat cgtgaagcta
     2701 gagattatgg agcgagccaa actgaagagg agggaggtgc tgggaaggct gttggatggg
     2761 gtggccgagg atgaaaggct gggtcgtgac agtgaaatcc atagggaaca gatggaacgg
     2821 ctagtacgtg aagagttgga acgctgggaa tccgatgatg cagcttccca gatcagtcat
     2881 ggtttaggca cgccagtggg actaaatggt caacctcgcc ccagaagctc ccgcccatct
     2941 tcctcccaat ctacagaagg catggaaggt gcaggtggaa atgggagttc taatgtccac
     3001 gtatgatatg tgtgtttcag tatgtgtgtt tctaataagt gaggaagtgg ctgtcctgaa
     3061 ttgctgtaac aagcacacta tttatatgcc ctgaccacca taggatgcta gtctttgtga
     3121 ccgattgcta atcttctgca ctttaattta ttttatataa actttaccca tggttcaaag
     3181 attttttttt ctttttctca tataagaaat ctaggtgtaa atattgagta cagaaaaaaa
     3241 atcttcatga tgtgtattga gcggtacgcc cagttgccac catgactgag tcttctcagt
     3301 tgacaatgaa gtagcctttt aaagctagaa aactgtcaaa gggcttctga gtttcatttc
     3361 cagtcacaaa aatcagtatt gttatttttt tccaagagtg tgaaggaaaa tggggcattc
     3421 ctttccactc tggcatagtt catgagctta atacatagct ttcttttaag aaaggagcct
     3481 tttttttcaa ctagcttcct ggggtaaact tttctaaaag ataaaatgga aaggaactcc
     3541 aaactatgat agaatctgtg tgaatggtta agatgaatgt taaatactat gcttttttgt
     3601 aagttgatcg tatctgatgt ctgtgggact aactgtatca cttaattttt accttatttt
     3661 ggctctaatt tgaataagct gagtaaaacc accaaagatc agttatagga taaaatggca
     3721 tctctaacca taacacagga gaattggaag gagccctaag ttgtcactca gtttaatttc
     3781 ttttaatggt tagtttagcc taaagattta tctgcatatt ctttttccca tgtggctcta
     3841 ctcatttgca actgaattta atgttataac tcatctagtg agaccaactt actaaatttt
     3901 tagtatgcac tgaaagtttt tatccaacaa ttatgttcat tttaagcaaa attttaagaa
     3961 agttttgaaa ttcataaagc atttggtttt aaactatttt aagaatatag tactcggtca
     4021 ggtatgacgg ctcacgcctg taatcccagc actttgggag gccgaaacag gcgaatcact
     4081 tgagcccagg agttcaagac caacatgggc aatgtggcga aactccatct ctacaaaaaa
     4141 tgcaaaaata aaaaatatag tactcaagta ttcttgatcc tgtgtttcaa aactagaatt
     4201 tgtaatgcaa atggagctca gtctaataaa aaagaggttt tggtattaaa agttcataca
     4261 ttagacagta tcagccaaaa tttgagttag caacactgtt ttctttacga gagggtctca
     4321 cccaaattta tggggagaaa tctatttctc aaaaaaaaaa atcttctttt acagaaatgt
     4381 tgagtaaggt gacattttga gcgctaataa gcaaaagagc atgcagtgct gttgaataac
     4441 cctcacttgg agaaccaaga gaatcctgtc gtttaatgct atattttaat ttcacaagtt
     4501 gttcatttaa ctggtagaat gtcagtccaa tctccaatga gaacatgagc aaatagacct
     4561 ttccaggttg aaagtgaaac atactgggtt tctgtaagtt tttcctcatg gcttcatctc
     4621 tatctttact ttctcttgaa tatgctacac aaagttcttt attactacat actaaagttt
     4681 gcattccagg gatattgact gtacatattt atgtatatgt accatgttgt tacatgtaaa
     4741 caaacttcaa tttgaagtgc agctattatg tggtatccat gtgtatcgac catgtgccat
     4801 atatcaatta tggtcactag aaagtctctt tatgatactt tttattgtac tgtttttcat
     4861 ttcacttgca aaattttgca gaattcctcc tttctaccca taaattacat atatttttct
     4921 tctttagtca tggagaactc cccccctcat ctcttcccta ttatctttcc ctgtgtactg
     4981 gtattattaa aaagacatta catacgcaag tctttctcga caatcaagaa tgttattaat
     5041 gtgtaatact gagcacttta cttcttaata aaaacttgat atagtagca
//
LOCUS       NM_000298               3047 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens pyruvate kinase L/R (PKLR), transcript variant 1, mRNA.
ACCESSION   NM_000298
VERSION     NM_000298.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3047)
  AUTHORS   Chen WY, Thuy Dung PV, Yeh HL, Chen WH, Jiang KC, Li HR, Chen ZQ,
            Hsiao M, Huang J, Wen YC and Liu YN.
  TITLE     Targeting PKLR/MYCN/ROMO1 signaling suppresses neuroendocrine
            differentiation of castration-resistant prostate cancer
  JOURNAL   Redox Biol 62, 102686 (2023)
   PUBMED   36963289
  REMARK    GeneRIF: Targeting PKLR/MYCN/ROMO1 signaling suppresses
            neuroendocrine differentiation of castration-resistant prostate
            cancer.
REFERENCE   2  (bases 1 to 3047)
  AUTHORS   Dongerdiye R, Bokde M, More TA, Saptarshi A, Devendra R, Chiddarwar
            A, Warang P and Kedar P.
  TITLE     Targeted next-generation sequencing identifies eighteen novel
            mutations expanding the molecular and clinical spectrum of PKLR gene
            disorders in the Indian population
  JOURNAL   Ann Hematol 102 (5), 1029-1036 (2023)
   PUBMED   36892591
  REMARK    GeneRIF: Targeted next-generation sequencing identifies eighteen
            novel mutations expanding the molecular and clinical spectrum of
            PKLR gene disorders in the Indian population.
REFERENCE   3  (bases 1 to 3047)
  AUTHORS   Sheng D, Chen B, Wang C, Xiao X, Hu A, Liu W, Kuang Y, Sample KM,
            Zacksenhaus E, Gajendran B, Pan W and Ben-David Y.
  TITLE     FLI1 accelerates leukemogenesis through transcriptional regulation
            of pyruvate kinase-L/R and other glycolytic genes
  JOURNAL   Med Oncol 40 (2), 69 (2022)
   PUBMED   36586017
  REMARK    GeneRIF: FLI1 accelerates leukemogenesis through transcriptional
            regulation of pyruvate kinase-L/R and other glycolytic genes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3047)
  AUTHORS   Mungkalasut P, Kiatamornrak P, Jugnam-Ang W, Krudsood S,
            Cheepsunthorn P and Cheepsunthorn CL.
  TITLE     Haematological profile of malaria patients with G6PD and PKLR
            variants (erythrocytic enzymopathies): a cross-sectional study in
            Thailand
  JOURNAL   Malar J 21 (1), 250 (2022)
   PUBMED   36038921
  REMARK    GeneRIF: Haematological profile of malaria patients with G6PD and
            PKLR variants (erythrocytic enzymopathies): a cross-sectional study
            in Thailand. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3047)
  AUTHORS   Wen YC, Chen WY, Tram VTN, Yeh HL, Chen WH, Jiang KC, Abou-Kheir W,
            Huang J, Hsiao M and Liu YN.
  TITLE     Pyruvate kinase L/R links metabolism dysfunction to neuroendocrine
            differentiation of prostate cancer by ZBTB10 deficiency
  JOURNAL   Cell Death Dis 13 (3), 252 (2022)
   PUBMED   35306527
  REMARK    GeneRIF: Pyruvate kinase L/R links metabolism dysfunction to
            neuroendocrine differentiation of prostate cancer by ZBTB10
            deficiency. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3047)
  AUTHORS   Zanella A, Fermo E, Bianchi P, Chiarelli LR and Valentini G.
  TITLE     Pyruvate kinase deficiency: the genotype-phenotype association
  JOURNAL   Blood Rev 21 (4), 217-231 (2007)
   PUBMED   17360088
  REMARK    GeneRIF: genotype-phenotype association in pyruvate kinase
            deficiency [review] Review article
REFERENCE   7  (bases 1 to 3047)
  AUTHORS   Kanno H, Fujii H and Miwa S.
  TITLE     Structural analysis of human pyruvate kinase L-gene and
            identification of the promoter activity in erythroid cells
  JOURNAL   Biochem Biophys Res Commun 188 (2), 516-523 (1992)
   PUBMED   1445295
REFERENCE   8  (bases 1 to 3047)
  AUTHORS   Dawson SJ and White LA.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   9  (bases 1 to 3047)
  AUTHORS   Kanno H, Fujii H, Hirono A, Omine M and Miwa S.
  TITLE     Identical point mutations of the R-type pyruvate kinase (PK) cDNA
            found in unrelated PK variants associated with hereditary hemolytic
            anemia
  JOURNAL   Blood 79 (5), 1347-1350 (1992)
   PUBMED   1536957
REFERENCE   10  (bases 1 to 3047)
  AUTHORS   Kanno H, Fujii H, Hirono A and Miwa S.
  TITLE     cDNA cloning of human R-type pyruvate kinase and identification of a
            single amino acid substitution (Thr384----Met) affecting enzymatic
            stability in a pyruvate kinase variant (PK Tokyo) associated with
            hereditary hemolytic anemia
  JOURNAL   Proc Natl Acad Sci U S A 88 (18), 8218-8221 (1991)
   PUBMED   1896471
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC025737.1, AB015983.1 [ECO:0000332]
            RNAseq introns :: mixed/partial sample support SAMEA1968968,
            SAMEA1970526 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: community standard
            (PMID:17360088)
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000342741.6/ ENSP00000339933.4
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL713999.28, BC025737.1 and
            H77542.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 10, 2018 this sequence version replaced NM_000298.5.
            Summary: The protein encoded by this gene is a pyruvate kinase that
            catalyzes the transphosphorylation of phohsphoenolpyruvate into
            pyruvate and ATP, which is the rate-limiting step of glycolysis.
            Defects in this enzyme, due to gene mutations or genetic
            variations, are the common cause of chronic hereditary
            nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1). Isoform 1 is also known as type R.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3047
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..3047
                     /gene="PKLR"
                     /gene_synonym="PK1; PKL; PKRL; RPK"
                     /note="pyruvate kinase L/R"
                     /db_xref="GeneID:5313"
                     /db_xref="HGNC:HGNC:9020"
                     /db_xref="MIM:609712"
     misc_feature    11..13
                     /gene="PKLR"
                     /gene_synonym="PK1; PKL; PKRL; RPK"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MVPQPQAHTES"
     CDS             44..1768
                     /gene="PKLR"
                     /gene_synonym="PK1; PKL; PKRL; RPK"
                     /EC_number="2.7.1.40"
                     /note="isoform 1 is encoded by transcript variant 1;
                     pyruvate kinase type L; pyruvate kinase, liver and blood
                     cell; pyruvate kinase 1; pyruvate kinase isozyme R/L;
                     R-type/L-type pyruvate kinase; red cell/liver pyruvate
                     kinase; pyruvate kinase isozymes R/L; pyruvate kinase
                     isozymes L/R; pyruvate kinase PKLR; pyruvate kinase, liver
                     and RBC"
                     /codon_start=1
                     /product="pyruvate kinase PKLR isoform 1"
                     /protein_id="NP_000289.1"
                     /db_xref="CCDS:CCDS1109.1"
                     /db_xref="GeneID:5313"
                     /db_xref="HGNC:HGNC:9020"
                     /db_xref="MIM:609712"
                     /translation="MSIQENISSLQLRSWVSKSQRDLAKSILIGAPGGPAGYLRRASVA
                     QLTQELGTAFFQQQQLPAAMADTFLEHLCLLDIDSEPVAARSTSIIATIGPASRSVERL
                     KEMIKAGMNIARLNFSHGSHEYHAESIANVREAVESFAGSPLSYRPVAIALDTKGPEIR
                     TGILQGGPESEVELVKGSQVLVTVDPAFRTRGNANTVWVDYPNIVRVVPVGGRIYIDDG
                     LISLVVQKIGPEGLVTQVENGGVLGSRKGVNLPGAQVDLPGLSEQDVRDLRFGVEHGVD
                     IVFASFVRKASDVAAVRAALGPEGHGIKIISKIENHEGVKRFDEILEVSDGIMVARGDL
                     GIEIPAEKVFLAQKMMIGRCNLAGKPVVCATQMLESMITKPRPTRAETSDVANAVLDGA
                     DCIMLSGETAKGNFPVEAVKMQHAIAREAEAAVYHRQLFEELRRAAPLSRDPTEVTAIG
                     AVEAAFKCCAAAIIVLTTTGRSAQLLSRYRPRAAVIAVTRSAQAARQVHLCRGVFPLLY
                     REPPEAIWADDVDRRVQFGIESGKLRGFLRVGDLVIVVTGWRPGSGYTNIMRVLSIS"
     misc_feature    47..49
                     /gene="PKLR"
                     /gene_synonym="PK1; PKL; PKRL; RPK"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P30613.2); phosphorylation site"
     misc_feature    98..100
                     /gene="PKLR"
                     /gene_synonym="PK1; PKL; PKRL; RPK"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P30613.2); phosphorylation site"
     misc_feature    119..121
                     /gene="PKLR"
                     /gene_synonym="PK1; PKL; PKRL; RPK"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P30613.2); phosphorylation site"
     misc_feature    170..172
                     /gene="PKLR"
                     /gene_synonym="PK1; PKL; PKRL; RPK"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P30613.2); phosphorylation site"
     misc_feature    917..919
                     /gene="PKLR"
                     /gene_synonym="PK1; PKL; PKRL; RPK"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P30613.2); phosphorylation site"
     misc_feature    980..982
                     /gene="PKLR"
                     /gene_synonym="PK1; PKL; PKRL; RPK"
                     /note="Transition state stabilizer.
                     /evidence=ECO:0000250|UniProtKB:P00549; propagated from
                     UniProtKB/Swiss-Prot (P30613.2); other site"
     polyA_site      2087
                     /gene="PKLR"
                     /gene_synonym="PK1; PKL; PKRL; RPK"
                     /note="major polyA site"
     polyA_site      2491
                     /gene="PKLR"
                     /gene_synonym="PK1; PKL; PKRL; RPK"
                     /note="major polyA site"
     regulatory      3028..3033
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PKLR"
                     /gene_synonym="PK1; PKL; PKRL; RPK"
                     /note="hexamer: AATACA"
     polyA_site      3047
                     /gene="PKLR"
                     /gene_synonym="PK1; PKL; PKRL; RPK"
ORIGIN
        1 ctctcattcc atggtcccgc agccccaggc ccacactgaa agcatgtcga tccaggagaa
       61 catatcatcc ctgcagcttc ggtcatgggt ctctaagtcc caaagagact tagcaaagtc
      121 catcctgatt ggggctccag gagggccagc ggggtatctg cggcgggcca gtgtggccca
      181 actgacccag gagctgggca ctgccttctt ccagcagcag cagctgccag ctgctatggc
      241 agacaccttc ctggaacacc tctgcctact ggacattgac tccgagcccg tggctgctcg
      301 cagtaccagc atcattgcca ccatcgggcc agcatctcgc tccgtggagc gcctcaagga
      361 gatgatcaag gccgggatga acattgcgcg actcaacttc tcccacggct cccacgagta
      421 ccatgctgag tccatcgcca acgtccggga ggcggtggag agctttgcag gttccccact
      481 cagctaccgg cccgtggcca tcgccctgga caccaaggga ccggagatcc gcactgggat
      541 cctgcagggg ggtccagagt cggaagtgga gctggtgaag ggctcccagg tgctggtgac
      601 tgtggacccc gcgttccgga cgcgggggaa cgcgaacacc gtgtgggtgg actaccccaa
      661 tattgtccgg gtcgtgccgg tggggggccg catctacatt gacgacgggc tcatctccct
      721 agtggtccag aaaatcggcc cagagggact ggtgacccaa gtggagaacg gcggcgtcct
      781 gggcagccgg aagggcgtga acttgccagg ggcccaggtg gacttgcccg ggctgtccga
      841 gcaggacgtc cgagacctgc gcttcggggt ggagcatggg gtggacatcg tctttgcctc
      901 ctttgtgcgg aaagccagcg acgtggctgc cgtcagggct gctctgggtc cggaaggaca
      961 cggcatcaag atcatcagca aaattgagaa ccacgaaggc gtgaagaggt ttgatgaaat
     1021 cctggaggtg agcgacggca tcatggtggc acggggggac ctaggcatcg agatcccagc
     1081 agagaaggtt ttcctggctc agaagatgat gattgggcgc tgcaacttgg cgggcaagcc
     1141 tgttgtctgt gccacacaga tgctggagag catgattacc aagccccggc caacgagggc
     1201 agagacaagc gatgtcgcca atgctgtgct ggatggggct gactgcatca tgctgtcagg
     1261 ggagactgcc aagggcaact tccctgtgga agcggtgaag atgcagcatg cgattgcccg
     1321 ggaggcagag gccgcagtgt accaccggca gctgtttgag gagctacgtc gggcagcgcc
     1381 actaagccgt gatcccactg aggtcaccgc cattggtgct gtggaggctg ccttcaagtg
     1441 ctgtgctgct gccatcattg tgctgaccac aactggccgc tcagcccagc ttctgtctcg
     1501 gtaccgacct cgggcagcag tcattgctgt cacccgctct gcccaggctg cccgccaggt
     1561 ccacttatgc cgaggagtct tccccttgct ttaccgtgaa cctccagaag ccatctgggc
     1621 agatgatgta gatcgccggg tgcaatttgg cattgaaagt ggaaagctcc gtggcttcct
     1681 ccgtgttgga gacctggtga ttgtggtgac aggctggcga cctggctccg gctacaccaa
     1741 catcatgcgg gtgctaagca tatcctgaga cgcccctccc tcctctggcc cagcctaccc
     1801 ttgtacccca tcccttcctc cccagtctac gttctccagc ccacacccct ccaaagcccc
     1861 acctttaagt cctctcttct ctattcctga ccctccctac ctgaggccta tctgagacta
     1921 taactgtcat ctagcccctt cgaggttgcc ccttccccat ctccatttca cacaggtcct
     1981 gaaagtctgt gtccaattat gcactggcca cccaacagca ccaattgtac attccctgca
     2041 tccaatctgc tcagcaggcc ctaagatgcc ttgagtcttt aatcccagtt tggctggtta
     2101 attccataac cccaggcatc ccatcccttg gggtggggga gaggggagac agggcaatct
     2161 tgtccacagt ctcccattct catatgtagc cctcatgata atctgggcat ctcgtgccag
     2221 ggcaggctac cccttcatgg tgactaacag ttacatgaaa gtccacgctt ttgggaaaac
     2281 tgggtgggat ggatgctggg gagaagtgag ggctgggcag ctgattttgt cactgtcttc
     2341 acaacctccg tgctgggctt gtagaccact gtcctggctg ctctcatgcc tgcctgatac
     2401 cctgcttggt caaatccccg gctgcttcct tctgcaccca gaaattcctt cccactcatg
     2461 ttgttcccac acacaaacca agagccaaaa atgagtgtgt ctattttata tttaaaccca
     2521 gctgtttgga agcaattata aaacttctcc cacacaccaa gaaccccaga actccccacc
     2581 cagaaggaaa ggagacttag ggtcctggtc ccacagtctt taatgctgta gagtaggaga
     2641 ggggacaggc agagtgaggg tggtaaagga ctactcttgt ccctgagaag gcagaggtgc
     2701 tggctggcct gcccttcccc aggcttggat accttgggcc tttcccttat tcctgcacca
     2761 acagcaaact cagaaggaaa aaacaaaaca aaactctaaa ggtaaacgcg gtccttctcc
     2821 ctctctcatg tggctcctcc tgcccctacc tgggagaagg ttcaagtatt gcgctgatgg
     2881 gtttgggcaa ggaccacaga ggctggcatg gagaggccct gcctcctcct actcctcctg
     2941 tctccttacc tgaaaaggag gggagggatg gataaaggaa tgggtaaaca aaattaattg
     3001 gtaacacata aagttagtaa atgaataaat acaattaaat aaatgaa
//
LOCUS       NM_000301               3530 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.
ACCESSION   NM_000301
VERSION     NM_000301.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3530)
  AUTHORS   Lee HJ, Yeom JW, Yun JH, Jang HB, Yoo MG, Kim HJ, Koo SK and Lee HJ.
  TITLE     Increased glutamate in type 2 diabetes in the Korean population is
            associated with increased plasminogen levels
  JOURNAL   J Diabetes 15 (9), 777-786 (2023)
   PUBMED   37314019
  REMARK    GeneRIF: Increased glutamate in type 2 diabetes in the Korean
            population is associated with increased plasminogen levels.
REFERENCE   2  (bases 1 to 3530)
  AUTHORS   Yakushiji H, Yamagami K, Hashimura C, Iwasaki H and Horiuchi T.
  TITLE     A Missense Mutation of the Plasminogen Gene in a Japanese Family
            with Hereditary Angioedema with Normal C1 Inhibitor: Third Family
            Survey in Asia
  JOURNAL   Intern Med 62 (13), 2005-2008 (2023)
   PUBMED   36418094
  REMARK    GeneRIF: A Missense Mutation of the Plasminogen Gene in a Japanese
            Family with Hereditary Angioedema with Normal C1 Inhibitor: Third
            Family Survey in Asia.
REFERENCE   3  (bases 1 to 3530)
  AUTHORS   Zhen EY, Chen YQ, Russell AM, Ehsani M, Siegel RW, Qian Y and Konrad
            RJ.
  TITLE     Angiopoietin-like protein 4/8 complex-mediated plasmin generation
            leads to cleavage of the complex and restoration of LPL activity
  JOURNAL   Proc Natl Acad Sci U S A 120 (7), e2214081120 (2023)
   PUBMED   36763533
  REMARK    GeneRIF: Angiopoietin-like protein 4/8 complex-mediated plasmin
            generation leads to cleavage of the complex and restoration of LPL
            activity.
REFERENCE   4  (bases 1 to 3530)
  AUTHORS   Yatsenko T, Skrypnyk M, Troyanovska O, Tobita M, Osada T, Takahashi
            S, Hattori K and Heissig B.
  TITLE     The Role of the Plasminogen/Plasmin System in Inflammation of the
            Oral Cavity
  JOURNAL   Cells 12 (3), 445 (2023)
   PUBMED   36766787
  REMARK    GeneRIF: The Role of the Plasminogen/Plasmin System in Inflammation
            of the Oral Cavity. Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3530)
  AUTHORS   Plawinski L, Cras A, Hernandez Lopez JR, de la Pena A, Van der
            Heyden A, Belle C, Toti F and Angles-Cano E.
  TITLE     Distinguishing Plasmin-Generating Microvesicles: Tiny Messengers
            Involved in Fibrinolysis and Proteolysis
  JOURNAL   Int J Mol Sci 24 (2), 1571 (2023)
   PUBMED   36675082
  REMARK    GeneRIF: Distinguishing Plasmin-Generating Microvesicles: Tiny
            Messengers Involved in Fibrinolysis and Proteolysis. Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3530)
  AUTHORS   Kingston,I.B., Kingston,B.L. and Putnam,F.W.
  TITLE     Chemical evidence that proteolytic cleavage causes the heterogeneity
            present in human ceruloplasmin preparations
  JOURNAL   Proc Natl Acad Sci U S A 74 (12), 5377-5381 (1977)
   PUBMED   146197
REFERENCE   7  (bases 1 to 3530)
  AUTHORS   Wiman,B.
  TITLE     Primary structure of the B-chain of human plasmin
  JOURNAL   Eur J Biochem 76 (1), 129-137 (1977)
   PUBMED   142009
REFERENCE   8  (bases 1 to 3530)
  AUTHORS   Moroi,M. and Aoki,N.
  TITLE     Isolation and characterization of alpha2-plasmin inhibitor from
            human plasma. A novel proteinase inhibitor which inhibits
            activator-induced clot lysis
  JOURNAL   J Biol Chem 251 (19), 5956-5965 (1976)
   PUBMED   134998
REFERENCE   9  (bases 1 to 3530)
  AUTHORS   Wiman,B. and Wallen,P.
  TITLE     Amino-acid sequence of the cyanogen-bromide fragment from human
            plasminogen that forms the linkage between the plasmin chains
  JOURNAL   Eur J Biochem 58 (2), 539-547 (1975)
   PUBMED   126863
REFERENCE   10  (bases 1 to 3530)
  AUTHORS   Wiman,B. and Wallen,P.
  TITLE     Structural relationship between 'glutamic acid' and 'lysine' forms
            of human plasminogen and their interaction with the NH2-terminal
            activation peptide as studied by affinity chromatography
  JOURNAL   Eur J Biochem 50 (3), 489-494 (1975)
   PUBMED   122932
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X05199.1, BC060513.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2145122 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related         :: relevant for disease process
            MANE Ensembl match          :: ENST00000308192.14/ ENSP00000308938.9
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL109933.25.
            On Feb 11, 2020 this sequence version replaced NM_000301.4.
            Summary: The plasminogen protein encoded by this gene is a serine
            protease that circulates in blood plasma as an inactive zymogen and
            is converted to the active protease, plasmin, by several
            plasminogen activators such as tissue plasminogen activator (tPA),
            urokinase plasminogen activator (uPA), kallikrein, and factor XII
            (Hageman factor). The conversion of plasminogen to plasmin involves
            the cleavage of the peptide bond between Arg-561 and Val-562.
            Plasmin cleavage also releases the angiostatin protein which
            inhibits angiogenesis. Plasmin degrades many blood plasma proteins,
            including fibrin-containing blood clots. As a serine protease,
            plasmin cleaves many products in addition to fibrin such as
            fibronectin, thrombospondin, laminin, and von Willebrand factor.
            Plasmin is inactivated by proteins such as alpha-2-macroglobulin
            and alpha-2-antiplasmin in addition to inhibitors of the various
            plasminogen activators. Plasminogen also interacts with plasminogen
            receptors which results in the retention of plasmin on cell
            surfaces and in plasmin-induced cell signaling. The localization of
            plasminogen on cell surfaces plays a role in the degradation of
            extracellular matrices, cell migration, inflamation, wound healing,
            oncogenesis, metastasis, myogenesis, muscle regeneration, neurite
            outgrowth, and fibrinolysis. This protein may also play a role in
            acute respiratory distress syndrome (ARDS) which, in part, is
            caused by enhanced clot formation and the suppression of
            fibrinolysis. Compared to other mammals, the cluster of
            plasminogen-like genes to which this gene belongs has been
            rearranged in catarrhine primates. [provided by RefSeq, May 2020].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3530
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q26"
     gene            1..3530
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="plasminogen"
                     /db_xref="GeneID:5340"
                     /db_xref="HGNC:HGNC:9071"
                     /db_xref="MIM:173350"
     misc_feature    2..4
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="upstream in-frame stop codon"
     CDS             62..2494
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /EC_number="3.4.21.7"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; plasmin"
                     /codon_start=1
                     /product="plasminogen isoform 1 precursor"
                     /protein_id="NP_000292.1"
                     /db_xref="CCDS:CCDS5279.1"
                     /db_xref="GeneID:5340"
                     /db_xref="HGNC:HGNC:9071"
                     /db_xref="MIM:173350"
                     /translation="MEHKEVVLLLLLFLKSGQGEPLDDYVNTQGASLFSVTKKQLGAGS
                     IEECAAKCEEDEEFTCRAFQYHSKEQQCVIMAENRKSSIIIRMRDVVLFEKKVYLSECK
                     TGNGKNYRGTMSKTKNGITCQKWSSTSPHRPRFSPATHPSEGLEENYCRNPDNDPQGPW
                     CYTTDPEKRYDYCDILECEEECMHCSGENYDGKISKTMSGLECQAWDSQSPHAHGYIPS
                     KFPNKNLKKNYCRNPDRELRPWCFTTDPNKRWELCDIPRCTTPPPSSGPTYQCLKGTGE
                     NYRGNVAVTVSGHTCQHWSAQTPHTHNRTPENFPCKNLDENYCRNPDGKRAPWCHTTNS
                     QVRWEYCKIPSCDSSPVSTEQLAPTAPPELTPVVQDCYHGDGQSYRGTSSTTTTGKKCQ
                     SWSSMTPHRHQKTPENYPNAGLTMNYCRNPDADKGPWCFTTDPSVRWEYCNLKKCSGTE
                     ASVVAPPPVVLLPDVETPSEEDCMFGNGKGYRGKRATTVTGTPCQDWAAQEPHRHSIFT
                     PETNPRAGLEKNYCRNPDGDVGGPWCYTTNPRKLYDYCDVPQCAAPSFDCGKPQVEPKK
                     CPGRVVGGCVAHPHSWPWQVSLRTRFGMHFCGGTLISPEWVLTAAHCLEKSPRPSSYKV
                     ILGAHQEVNLEPHVQEIEVSRLFLEPTRKDIALLKLSSPAVITDKVIPACLPSPNYVVA
                     DRTECFITGWGETQGTFGAGLLKEAQLPVIENKVCNRYEFLNGRVQSTELCAGHLAGGT
                     DSCQGDSGGPLVCFEKDKYILQGVTSWGLGCARPNKPGVYVRVSRFVTWIEGVMRNN"
     sig_peptide     62..118
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     119..2491
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /product="plasminogen isoform 1"
     mat_peptide     119..1801
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /product="Plasmin heavy chain A. /id=PRO_0000028054"
                     /note="propagated from UniProtKB/Swiss-Prot (P00747.2)"
     mat_peptide     119..352
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /product="Activation peptide. /id=PRO_0000028055"
                     /note="propagated from UniProtKB/Swiss-Prot (P00747.2)"
     misc_feature    293..298
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="Cleavage, by stromelysin-1; propagated from
                     UniProtKB/Swiss-Prot (P00747.2); cleavage site"
     mat_peptide     296..1459
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /product="Angiostatin. /id=PRO_0000028057"
                     /note="propagated from UniProtKB/Swiss-Prot (P00747.2)"
     mat_peptide     353..1801
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /product="Plasmin heavy chain A, short form.
                     /id=PRO_0000028056"
                     /note="propagated from UniProtKB/Swiss-Prot (P00747.2)"
     misc_feature    437..496
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="propagated from UniProtKB/Swiss-Prot (P00747.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    461..463
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="Interacts with fibrin; propagated from
                     UniProtKB/Swiss-Prot (P00747.2); other site"
     misc_feature    467..469
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="Interacts with fibrin; propagated from
                     UniProtKB/Swiss-Prot (P00747.2); other site"
     misc_feature    863..865
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:3356193,
                     ECO:0000269|PubMed:9054441. /id=CAR_000016; propagated from
                     UniProtKB/Swiss-Prot (P00747.2); glycosylation site"
     misc_feature    983..985
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:18780401,
                     ECO:0000269|PubMed:3356193. /id=CAR_000017; propagated from
                     UniProtKB/Swiss-Prot (P00747.2); glycosylation site"
     misc_feature    1154..1156
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3356193. /id=CAR_000018;
                     propagated from UniProtKB/Swiss-Prot (P00747.2);
                     glycosylation site"
     misc_feature    1247..1309
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="propagated from UniProtKB/Swiss-Prot (P00747.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1457..1462
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="Cleavage, by stromelysin-19; propagated from
                     UniProtKB/Swiss-Prot (P00747.2); cleavage site"
     misc_feature    1799..1804
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="Cleavage, by plasminogen activator; propagated from
                     UniProtKB/Swiss-Prot (P00747.2); cleavage site"
     mat_peptide     1802..2491
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /product="Plasmin light chain B. /id=PRO_0000028058"
                     /note="propagated from UniProtKB/Swiss-Prot (P00747.2)"
     misc_feature    1850..1852
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:9201958;
                     propagated from UniProtKB/Swiss-Prot (P00747.2);
                     phosphorylation site"
     misc_feature    2123..2125
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P00747.2); phosphorylation site"
     regulatory      2724..2729
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="hexamer: AGTAAA"
     polyA_site      2748
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="major polyA site"
     regulatory      3511..3516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLG"
                     /gene_synonym="HAE4"
                     /note="hexamer: AATAGA"
     polyA_site      3530
                     /gene="PLG"
                     /gene_synonym="HAE4"
ORIGIN
        1 gtaagtcaac aacatcctgg gattgggacc cactttctgg gcactgctgg ccagtcccaa
       61 aatggaacat aaggaagtgg ttcttctact tcttttattt ctgaaatcag gtcaaggaga
      121 gcctctggat gactatgtga atacccaggg ggcttcactg ttcagtgtca ctaagaagca
      181 gctgggagca ggaagtatag aagaatgtgc agcaaaatgt gaggaggacg aagaattcac
      241 ctgcagggca ttccaatatc acagtaaaga gcaacaatgt gtgataatgg ctgaaaacag
      301 gaagtcctcc ataatcatta ggatgagaga tgtagtttta tttgaaaaga aagtgtatct
      361 ctcagagtgc aagactggga atggaaagaa ctacagaggg acgatgtcca aaacaaaaaa
      421 tggcatcacc tgtcaaaaat ggagttccac ttctccccac agacctagat tctcacctgc
      481 tacacacccc tcagagggac tggaggagaa ctactgcagg aatccagaca acgatccgca
      541 ggggccctgg tgctatacta ctgatccaga aaagagatat gactactgcg acattcttga
      601 gtgtgaagag gaatgtatgc attgcagtgg agaaaactat gacggcaaaa tttccaagac
      661 catgtctgga ctggaatgcc aggcctggga ctctcagagc ccacacgctc atggatacat
      721 tccttccaaa tttccaaaca agaacctgaa gaagaattac tgtcgtaacc ccgataggga
      781 gctgcggcct tggtgtttca ccaccgaccc caacaagcgc tgggaacttt gtgacatccc
      841 ccgctgcaca acacctccac catcttctgg tcccacctac cagtgtctga agggaacagg
      901 tgaaaactat cgcgggaatg tggctgttac cgtgtccggg cacacctgtc agcactggag
      961 tgcacagacc cctcacacac ataacaggac accagaaaac ttcccctgca aaaatttgga
     1021 tgaaaactac tgccgcaatc ctgacggaaa aagggcccca tggtgccata caaccaacag
     1081 ccaagtgcgg tgggagtact gtaagatacc gtcctgtgac tcctccccag tatccacgga
     1141 acaattggct cccacagcac cacctgagct aacccctgtg gtccaggact gctaccatgg
     1201 tgatggacag agctaccgag gcacatcctc caccaccacc acaggaaaga agtgtcagtc
     1261 ttggtcatct atgacaccac accggcacca gaagacccca gaaaactacc caaatgctgg
     1321 cctgacaatg aactactgca ggaatccaga tgccgataaa ggcccctggt gttttaccac
     1381 agaccccagc gtcaggtggg agtactgcaa cctgaaaaaa tgctcaggaa cagaagcgag
     1441 tgttgtagca cctccgcctg ttgtcctgct tccagatgta gagactcctt ccgaagaaga
     1501 ctgtatgttt gggaatggga aaggataccg aggcaagagg gcgaccactg ttactgggac
     1561 gccatgccag gactgggctg cccaggagcc ccatagacac agcattttca ctccagagac
     1621 aaatccacgg gcgggtctgg aaaaaaatta ctgccgtaac cctgatggtg atgtaggtgg
     1681 tccctggtgc tacacgacaa atccaagaaa actttacgac tactgtgatg tccctcagtg
     1741 tgcggcccct tcatttgatt gtgggaagcc tcaagtggag ccgaagaaat gtcctggaag
     1801 ggttgtaggg gggtgtgtgg cccacccaca ttcctggccc tggcaagtca gtcttagaac
     1861 aaggtttgga atgcacttct gtggaggcac cttgatatcc ccagagtggg tgttgactgc
     1921 tgcccactgc ttggagaagt ccccaaggcc ttcatcctac aaggtcatcc tgggtgcaca
     1981 ccaagaagtg aatctcgaac cgcatgttca ggaaatagaa gtgtctaggc tgttcttgga
     2041 gcccacacga aaagatattg ccttgctaaa gctaagcagt cctgccgtca tcactgacaa
     2101 agtaatccca gcttgtctgc catccccaaa ttatgtggtc gctgaccgga ccgaatgttt
     2161 catcactggc tggggagaaa cccaaggtac ttttggagct ggccttctca aggaagccca
     2221 gctccctgtg attgagaata aagtgtgcaa tcgctatgag tttctgaatg gaagagtcca
     2281 atccaccgaa ctctgtgctg ggcatttggc cggaggcact gacagttgcc agggtgacag
     2341 tggaggtcct ctggtttgct tcgagaagga caaatacatt ttacaaggag tcacttcttg
     2401 gggtcttggc tgtgcacgcc ccaataagcc tggtgtctat gttcgtgttt caaggtttgt
     2461 tacttggatt gagggagtga tgagaaataa ttaattggac gggagacaga gtgacgcact
     2521 gactcaccta gaggctggaa cgtgggtagg gatttagcat gctggaaata actggcagta
     2581 atcaaacgaa gacactgtcc ccagctacca gctacgccaa acctcggcat tttttgtgtt
     2641 attttctgac tgctggattc tgtagtaagg tgacatagct atgacatttg ttaaaaataa
     2701 actctgtact taactttgat ttgagtaaat tttggttttg gtcttcaaca ttttcatgct
     2761 ctttgttcac cccaccaatt tttaaatggg cagatggggg gatttagctg cttttgataa
     2821 ggaacagctg cacaaaggac tgagcaggct gcaaggtcac agaggggaga gccaagaagt
     2881 tgtccacgca tttacctcat cagctaacga gggcttgaca tgcattttta ctgtctttat
     2941 tcctgacact gagatgaatg ttttcaaagc tgcaacatgt atggggagtc atgcaaaccg
     3001 attctgttat tgggaatgaa atctgtcacc gactgcttga cttgagccca ggggacacgg
     3061 agcagagagc tgtatatgat ggagtgaacc ggtccatgga tgtgtaacac aagaccaact
     3121 gagagtctga atgttattct ggggcacacg tgagtctagg attggtgcca agagcatgta
     3181 aatgaacaac aagcaaatat tgaaggtgga ccacttattt cccattgcta attgcctgcc
     3241 cggttttgaa acagtctgca gtacacacgg tcacaggaga atgacctgtg ggagagatac
     3301 atgtttagaa ggaagagaaa ggacaaaggc acacgtttta ccatttaaaa tattgttacc
     3361 aaacaaaaat atccattcaa aatacaattt aacaatgcaa cagtcatctt acagcagaga
     3421 aatgcagaga aaagcaaaac tgcaagtgac tgtgaataaa gggtgaatgt agtctcaaat
     3481 cctcaaagag ctgtgtttat ttcattgaca aatagattat ttgtattcaa
//
LOCUS       NM_000302               2976 bp    mRNA    linear   PRI 23-MAR-2023
DEFINITION  Homo sapiens procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
            (PLOD1), transcript variant 2, mRNA.
ACCESSION   NM_000302
VERSION     NM_000302.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2976)
  AUTHORS   Cao ZR, Zheng WX, Jiang YX, Chai H, Gong JH, Zhao MJ, Yan P, Liu YY,
            Liu XY, Huang ZT, Yang H, Peng DD, Zong KZ and Wu ZJ.
  TITLE     miR-449a ameliorates acute rejection after liver transplantation via
            targeting procollagen-lysine1,2-oxoglutarate5-dioxygenase 1 in
            macrophages
  JOURNAL   Am J Transplant 23 (3), 336-352 (2023)
   PUBMED   36695693
  REMARK    GeneRIF: miR-449a ameliorates acute rejection after liver
            transplantation via targeting
            procollagen-lysine1,2-oxoglutarate5-dioxygenase 1 in macrophages.
REFERENCE   2  (bases 1 to 2976)
  AUTHORS   Zhang J, Dong Y, Shi Z, He H, Chen J, Zhang S, Wu W, Zhang Q, Han C
            and Hao L.
  TITLE     P3H4 and PLOD1 expression associates with poor prognosis in bladder
            cancer
  JOURNAL   Clin Transl Oncol 24 (8), 1524-1532 (2022)
   PUBMED   35149972
  REMARK    GeneRIF: P3H4 and PLOD1 expression associates with poor prognosis in
            bladder cancer.
REFERENCE   3  (bases 1 to 2976)
  AUTHORS   Yuan B, Xu Y and Zheng S.
  TITLE     PLOD1 acts as a tumor promoter in glioma via activation of the HSF1
            signaling pathway
  JOURNAL   Mol Cell Biochem 477 (2), 549-557 (2022)
   PUBMED   34845571
  REMARK    GeneRIF: PLOD1 acts as a tumor promoter in glioma via activation of
            the HSF1 signaling pathway.
REFERENCE   4  (bases 1 to 2976)
  AUTHORS   Koenig SN, Cavus O, Williams J, Bernier M, Tonniges J, Sucharski H,
            Dew T, Akel M, Baker P, Madiai F, De Giorgi F, Scietti L, Faravelli
            S, Forneris F, Mohler PJ and Bradley EA.
  TITLE     New mechanistic insights to PLOD1-mediated human vascular disease
  JOURNAL   Transl Res 239, 1-17 (2022)
   PUBMED   34400365
  REMARK    GeneRIF: New mechanistic insights to PLOD1-mediated human vascular
            disease.
REFERENCE   5  (bases 1 to 2976)
  AUTHORS   Zhang Y, Wu Y and Su X.
  TITLE     PLOD1 promotes cell growth and aerobic glycolysis by regulating the
            SOX9/PI3K/Akt/mTOR signaling pathway in gastric cancer
  JOURNAL   Front Biosci (Landmark Ed) 26 (8), 322-334 (2021)
   PUBMED   34455762
  REMARK    GeneRIF: PLOD1 promotes cell growth and aerobic glycolysis by
            regulating the SOX9/PI3K/Akt/mTOR signaling pathway in gastric
            cancer.
REFERENCE   6  (bases 1 to 2976)
  AUTHORS   Yeowell,H.N. and Steinmann,B.
  TITLE     PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301635
REFERENCE   7  (bases 1 to 2976)
  AUTHORS   Anttinen,H., Tuderman,L., Oikarinen,A. and Kivirikko,K.I.
  TITLE     Intracellular enzymes of collagen biosynthesis in human platelets
  JOURNAL   Blood 50 (1), 29-37 (1977)
   PUBMED   194639
REFERENCE   8  (bases 1 to 2976)
  AUTHORS   Lanier,V.C. Jr., Serafin,D., Kleinert,H.F., Kutz,J.E., Atasoy,E. and
            Lister,G.
  TITLE     Microvascular procedures in reconstructive surgery
  JOURNAL   South Med J 69 (12), 1595-1597 (1976)
   PUBMED   798297
REFERENCE   9  (bases 1 to 2976)
  AUTHORS   Steinmann,B., Gitzelmann,R., Vogel,A., Grant,M.E., Harwood,R. and
            Sear,C.H.
  TITLE     Ehlers-Danlos syndrome in two siblings with deficient lysyl
            hydroxylase activity in cultured skin fibroblasts but only mild
            hydroxylysine deficit in skin
  JOURNAL   Helv Paediatr Acta 30 (3), 255-274 (1975)
   PUBMED   1184396
REFERENCE   10  (bases 1 to 2976)
  AUTHORS   Ryhanen,L.
  TITLE     Hydroxylation of lysyl residues in lysine-rich and arginine-rich
            histones by lysyl hydroxylase in vitro
  JOURNAL   Biochim Biophys Acta 397 (1), 50-57 (1975)
   PUBMED   1148262
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.277372.1,
            SRR1803611.179944.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000196061.5/ ENSP00000196061.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC334246.1, M98252.1 and
            BQ447373.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000302.3.
            Summary: Lysyl hydroxylase is a membrane-bound homodimeric protein
            localized to the cisternae of the endoplasmic reticulum. The enzyme
            (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl
            residues in collagen-like peptides. The resultant hydroxylysyl
            groups are attachment sites for carbohydrates in collagen and thus
            are critical for the stability of intermolecular crosslinks. Some
            patients with Ehlers-Danlos syndrome type VI have deficiencies in
            lysyl hydroxylase activity. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2015].
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region compared to variant 1. The resulting
            isoform (2) has the same N- and C-termini but is shorter compared
            to isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2976
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     gene            1..2976
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /note="procollagen-lysine,2-oxoglutarate 5-dioxygenase 1"
                     /db_xref="GeneID:5351"
                     /db_xref="HGNC:HGNC:9081"
                     /db_xref="MIM:153454"
     CDS             64..2247
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /EC_number="1.14.11.4"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; lysine hydroxylase; procollagen-lysine 1, 2-oxoglutarate
                     5-dioxygenase 1; procollagen lysyl hydroxylase 1; lysyl
                     hydroxlase 1"
                     /codon_start=1
                     /product="procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
                     isoform 2 precursor"
                     /protein_id="NP_000293.2"
                     /db_xref="CCDS:CCDS142.1"
                     /db_xref="GeneID:5351"
                     /db_xref="HGNC:HGNC:9081"
                     /db_xref="MIM:153454"
                     /translation="MRPLLLLALLGWLLLAEAKGDAKPEDNLLVLTVATKETEGFRRFK
                     RSAQFFNYKIQALGLGEDWNVEKGTSAGGGQKVRLLKKALEKHADKEDLVILFADSYDV
                     LFASGPRELLKKFRQARSQVVFSAEELIYPDRRLETKYPVVSDGKRFLGSGGFIGYAPN
                     LSKLVAEWEGQDSDSDQLFYTKIFLDPEKREQINITLDHRCRIFQNLDGALDEVVLKFE
                     MGHVRARNLAYDTLPVLIHGNGPTKLQLNYLGNYIPRFWTFETGCTVCDEGLRSLKGIG
                     DEALPTVLVGVFIEQPTPFVSLFFQRLLRLHYPQKHMRLFIHNHEQHHKAQVEEFLAQH
                     GSEYQSVKLVGPEVRMANADARNMGADLCRQDRSCTYYFSVDADVALTEPNSLRLLIQQ
                     NKNVIAPLMTRHGRLWSNFWGALSADGYYARSEDYVDIVQGRRVGVWNVPYISNIYLIK
                     GSALRGELQSSDLFHHSKLDPDMAFCANIRQQDVFMFLTNRHTLGHLLSLDSYRTTHLH
                     NDLWEVFSNPEDWKEKYIHQNYTKALAGKLVETPCPDVYWFPIFTEVACDELVEEMEHF
                     GQWSLGNNKDNRIQGGYENVPTIDIHMNQIGFEREWHKFLLEYIAPMTEKLYPGYYTRA
                     QFDLAFVVRYKPDEQPSLMPHHDASTFTINIALNRVGVDYEGGGCRFLRYNCSIRAPRK
                     GWTLMHPGRLTHYHEGLPTTRGTRYIAVSFVDP"
     sig_peptide     64..117
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     118..2244
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /product="Procollagen-lysine,2-oxoglutarate 5-dioxygenase
                     1. /id=PRO_0000024678"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02809.2)"
     misc_feature    550..552
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q02809.2); glycosylation site"
     misc_feature    652..654
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (Q02809.2); glycosylation site"
     misc_feature    1675..1677
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (Q02809.2); glycosylation site"
     misc_feature    2119..2121
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q02809.2); glycosylation site"
     regulatory      2957..2962
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /note="hexamer: ATTAAA"
     polyA_site      2976
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /note="major polyA site"
ORIGIN
        1 gtcgcgaagt ttccagccct gcgagcgccg ccgggtcggc cgatcgtccc ccatacctcg
       61 gccatgcggc ccctgctgct actggccctg ctgggctggc tgctgctggc cgaagcgaag
      121 ggcgacgcca agccggagga caacctttta gtcctcacgg tggccactaa ggagaccgag
      181 ggattccgtc gcttcaagcg ctcagctcag ttcttcaact acaagatcca ggcgcttggc
      241 ctaggggagg actggaatgt ggagaagggg acgtcggcag gtggagggca gaaggtccgg
      301 ctgctgaaga aagctctgga gaagcacgca gacaaggagg atctggtcat tctcttcgca
      361 gacagctatg acgtgctgtt tgcatcgggg ccccgggagc tcctgaagaa gttccggcag
      421 gccaggagcc aggtggtctt ctctgctgag gagctcatct acccagaccg caggctggag
      481 accaagtatc cggtggtgtc cgatggcaag aggttcctgg gctctggagg cttcatcggt
      541 tatgccccca acctcagcaa actggtggcc gagtgggagg gccaggacag cgacagcgat
      601 cagctgtttt acaccaagat cttcttggac ccggagaaga gggagcagat caatatcacc
      661 ctggaccacc gctgccgtat cttccagaac ctggatggag ccttggatga ggtcgtgctc
      721 aagtttgaaa tgggccatgt gagagcgagg aacctggcct atgacaccct cccggtcctg
      781 atccatggca acgggccaac caagctgcag ttgaactacc tgggcaacta catcccgcgc
      841 ttctggacct tcgaaacagg ctgcaccgtg tgtgacgaag gcttgcgcag cctcaagggc
      901 attggggatg aagctctgcc cacggtcctg gtcggcgtgt tcatcgaaca gcccacgccg
      961 tttgtgtccc tgttcttcca gcggctcctg cggctccact acccccagaa acacatgcga
     1021 cttttcatcc acaaccacga gcagcaccac aaggctcagg tggaagagtt cctggcacag
     1081 catggcagcg agtaccagtc tgtgaagctg gtgggccctg aggtgcggat ggcgaatgca
     1141 gatgccagga acatgggcgc agacctgtgc cggcaggacc gcagctgcac ctactacttc
     1201 agcgtggatg ctgacgtggc cctgaccgag cccaacagcc tgcggctgct gatccaacag
     1261 aacaagaacg tcattgcccc gctgatgacc cggcatggga ggctgtggtc gaacttctgg
     1321 ggggctctca gtgcagatgg ctactatgcc cgttccgagg actacgtgga cattgtgcag
     1381 gggcggcgtg ttggtgtctg gaatgtgccc tatatttcaa acatctactt gatcaagggc
     1441 agtgccctgc ggggtgagct gcagtcctca gatctcttcc accacagcaa gctggacccc
     1501 gacatggcct tctgtgccaa catccggcag caggatgtgt tcatgttcct gaccaaccgg
     1561 cacacccttg gccatctgct ctccctagac agctaccgca ccacccacct gcacaacgac
     1621 ctctgggagg tgttcagcaa ccccgaggac tggaaggaga agtacatcca ccagaactac
     1681 accaaagccc tggcagggaa gctggtggag acgccctgcc cggatgtcta ttggttcccc
     1741 atcttcacgg aggtggcctg tgatgagctg gtggaggaga tggagcactt tggccagtgg
     1801 tctctgggca acaacaagga caaccgcatc cagggtggct acgagaacgt gccgactatt
     1861 gacatccaca tgaaccagat cggctttgag cgggagtggc acaaattcct gctggagtac
     1921 attgcgccca tgacggagaa gctctacccc ggctactaca ccagggccca gtttgacctg
     1981 gcctttgtcg tccgctacaa gcctgatgag cagccctcac tgatgccaca ccatgatgcc
     2041 tccaccttca ccatcaacat cgccctgaac cgagtcgggg tggattacga gggcgggggc
     2101 tgtcggttcc tgcgctacaa ctgttccatc cgagccccaa ggaagggctg gaccctcatg
     2161 caccctggac gactcacgca ttaccatgag gggctcccca ccaccagggg cacccgctac
     2221 atcgcagtct ccttcgtcga tccctaattg gccaggcctg accctcttgg acctttcttc
     2281 tttgccgaca accactgccc agcagcctct gggacctcgg ggtcccaggg aacccagtcc
     2341 agcctcctgg ctgttgactt cccattgctc ttggagccac caatcaaaga gattcaaaga
     2401 gattcctgca ggccagaggc ggaacacacc tttatggctg gggctctccg tggtgttctg
     2461 gacccagccc ctggagacac cattcacttt tactgctttg tagtgactcg tgctctccaa
     2521 cctgtcttcc tgaaaaacca aggccccctt cccccacctc ttccatgggg tgagacttga
     2581 gcagaacagg ggcttcccca agttgcccag aaagactgtc tgggtgagaa gccatggcca
     2641 gagcttctcc caggcacagg tgttgcacca gggacttctg cttcaagttt tggggtaaag
     2701 acacctggat cagactccaa gggctgccct gagtctggga cttctgcctc catggctggt
     2761 catgagagca aaccgtagtc ccctggagac agcgactcca gagaacctct tgggagacag
     2821 aagaggcatc tgtgcacagc tcgatcttct acttgcctgt ggggagggga gtgacaggtc
     2881 cacacaccac actgggtcac cctgtcctgg atgcctctga agagagggac agaccgtcag
     2941 aaactggaga gtttctatta aaggtcattt aaacca
//
LOCUS       NM_000303               2285 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens phosphomannomutase 2 (PMM2), mRNA.
ACCESSION   NM_000303
VERSION     NM_000303.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2285)
  AUTHORS   Kiparissi F, Dastamani A, Palm L, Azabdaftari A, Campos L, Gaynor E,
            Grunewald S, Uhlig HH, Kleta R, Bockenhauer D and Jones KDJ.
  TITLE     Phosphomannomutase 2 (PMM2) variants leading to
            hyperinsulinism-polycystic kidney disease are associated with
            early-onset inflammatory bowel disease and gastric antral foveolar
            hyperplasia
  JOURNAL   Hum Genet 142 (5), 697-704 (2023)
   PUBMED   36773065
  REMARK    GeneRIF: Phosphomannomutase 2 (PMM2) variants leading to
            hyperinsulinism-polycystic kidney disease are associated with
            early-onset inflammatory bowel disease and gastric antral foveolar
            hyperplasia.
REFERENCE   2  (bases 1 to 2285)
  AUTHORS   Yu F, Lin L, Sun J, Pan J, Liao Y, Pan Y, Bai G, Ma L, Mao J and Hu
            L.
  TITLE     Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental
            Stress with Loss of Structural Stability
  JOURNAL   Oxid Med Cell Longev 2023, 5964723 (2023)
   PUBMED   36743691
  REMARK    GeneRIF: Cysteine Pathogenic Variants of PMM2 Are Sensitive to
            Environmental Stress with Loss of Structural Stability. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 2285)
  AUTHORS   Segovia-Falquina C, Vilas A, Leal F, Del Cano-Ochoa F, Kirk EP,
            Ugarte M, Ramon-Maiques S, Gamez A and Perez B.
  TITLE     A functional platform for the selection of pathogenic variants of
            PMM2 amenable to rescue via the use of pharmacological chaperones
  JOURNAL   Hum Mutat 43 (10), 1430-1442 (2022)
   PUBMED   35789514
  REMARK    GeneRIF: A functional platform for the selection of pathogenic
            variants of PMM2 amenable to rescue via the use of pharmacological
            chaperones.
REFERENCE   4  (bases 1 to 2285)
  AUTHORS   Vaes L, Rymen D, Cassiman D, Ligezka A, Vanhoutvin N, Quelhas D,
            Morava E and Witters P.
  TITLE     Genotype-Phenotype Correlations in PMM2-CDG
  JOURNAL   Genes (Basel) 12 (11), 1658 (2021)
   PUBMED   34828263
  REMARK    GeneRIF: Genotype-Phenotype Correlations in PMM2-CDG. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 2285)
  AUTHORS   Schollen E, Pardon E, Heykants L, Renard J, Doggett NA, Callen DF,
            Cassiman JJ and Matthijs G.
  TITLE     Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and
            PMM2psi: the sequence variation in the processed pseudogene is a
            reflection of the mutations found in the functional gene
  JOURNAL   Hum Mol Genet 7 (2), 157-164 (1998)
   PUBMED   9425221
REFERENCE   6  (bases 1 to 2285)
  AUTHORS   Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J,
            Cassiman JJ and Van Schaftingen E.
  TITLE     Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in
            carbohydrate-deficient glycoprotein type I syndrome (Jaeken
            syndrome)
  JOURNAL   Nat Genet 16 (1), 88-92 (1997)
   PUBMED   9140401
  REMARK    Erratum:[Nat Genet 1997 Jul;16(3):316]
REFERENCE   7  (bases 1 to 2285)
  AUTHORS   Matthijs G, Schollen E, Pirard M, Budarf ML, Van Schaftingen E and
            Cassiman JJ.
  TITLE     PMM (PMM1), the human homologue of SEC53 or yeast
            phosphomannomutase, is localized on chromosome 22q13
  JOURNAL   Genomics 40 (1), 41-47 (1997)
   PUBMED   9070917
REFERENCE   8  (bases 1 to 2285)
  AUTHORS   Martinsson T, Bjursell C, Stibler H, Kristiansson B, Skovby F,
            Jaeken J, Blennow G, Stromme P, Hanefeld F and Wahlstrom J.
  TITLE     Linkage of a locus for carbohydrate-deficient glycoprotein syndrome
            type I (CDG1) to chromosome 16p, and linkage disequilibrium to
            microsatellite marker D16S406
  JOURNAL   Hum Mol Genet 3 (11), 2037-2042 (1994)
   PUBMED   7874123
REFERENCE   9  (bases 1 to 2285)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301507
REFERENCE   10  (bases 1 to 2285)
  AUTHORS   Lam,C. and Krasnewich,D.M.
  TITLE     PMM2-CDG
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301289
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.182499.1, KY814483.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000268261.9/ ENSP00000268261.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC366756.1, AK291537.1,
            AB209659.1, BF811414.1 and BC008310.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000303.2.
            Summary: The protein encoded by this gene catalyzes the
            isomerization of mannose 6-phosphate to mannose 1-phosphate, which
            is a precursor to GDP-mannose necessary for the synthesis of
            dolichol-P-oligosaccharides. Mutations in this gene have been shown
            to cause defects in glycoprotein biosynthesis, which manifests as
            carbohydrate-deficient glycoprotein syndrome type I. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2285
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.2"
     gene            1..2285
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /note="phosphomannomutase 2"
                     /db_xref="GeneID:5373"
                     /db_xref="HGNC:HGNC:9115"
                     /db_xref="MIM:601785"
     CDS             45..785
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /EC_number="5.4.2.8"
                     /note="phosphomannose isomerase 1; mannose-6-phosphate
                     isomerase"
                     /codon_start=1
                     /product="phosphomannomutase 2"
                     /protein_id="NP_000294.1"
                     /db_xref="CCDS:CCDS10536.1"
                     /db_xref="GeneID:5373"
                     /db_xref="HGNC:HGNC:9115"
                     /db_xref="MIM:601785"
                     /translation="MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVG
                     GSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCL
                     SYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRK
                     EFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFT
                     DPRTMGYSVTAPEDTRRICELLFS"
     misc_feature    48..50
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O15305.1); acetylation site"
     misc_feature    489..491
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z2M7; propagated from
                     UniProtKB/Swiss-Prot (O15305.1); acetylation site"
     regulatory      2266..2271
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /note="hexamer: ATTAAA"
     polyA_site      2285
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /note="major polyA site"
ORIGIN
        1 ctcgtgccaa cgtgtcttgt aaggtgcggc tagaaactgg ggacatggca gcgcctggcc
       61 cagcgctctg cctcttcgac gtggatggga ccctcaccgc cccgcggcag aaaattacca
      121 aagaaatgga tgacttccta caaaaattga ggcagaagat caaaatcgga gtggtaggcg
      181 gatcggactt tgagaaagtg caggagcaac tgggaaatga tgtggttgaa aaatacgatt
      241 atgtgtttcc agaaaatggc ttggtagcat acaaagatgg gaaactcttg tgtagacaga
      301 atattcaaag tcatctgggt gaggccctaa tccaagattt aatcaactac tgtctgagct
      361 acattgcgaa aattaaactc ccgaagaaga ggggtacttt cattgaattc cgaaatggga
      421 tgttaaacgt gtcccctatt ggaagaagct gcagccaaga agaacgcatt gagttctacg
      481 aactcgataa aaaagaaaat ataagacaaa agtttgtagc agatctacgg aaagagtttg
      541 ctggaaaagg cctcacgttt tccataggag gccagatcag ctttgatgtc tttcctgatg
      601 gatgggacaa gagatactgt ctgcgacatg tggaaaatga cggttataag accatttatt
      661 tctttggaga caaaactatg ccaggtggca atgaccatga gatcttcaca gaccccagaa
      721 ccatgggcta ctccgtgaca gcgcctgagg acacgcgcag gatctgtgaa ctgctgttct
      781 cctaacgtgg gagcgggagg ggcggggtcc cggctgacaa gccagcatag ggcattcggt
      841 ggccagagcc gagggtcctc ccacacgtgc tcacccaccc gcagcctagg caggctctgc
      901 atgctatgcc aggcatgtgc agtctggact tccacctcca gtgccagaaa cttccagaag
      961 gaaggagaaa actcttgtca agaatggccc agaggaatgc ctcgcacaaa aggtcttccc
     1021 cacccacccc cagcccccta gtctaatacc caccctgata cgtgcaatca tgtagttttg
     1081 gcggaaattt ccccatcatt ctaggatgat acagaaagaa aaactgtgcc tggaccctcc
     1141 ctcttggtgg gtctgtggaa acataagcgg tttttttaat gggcccctgc atcaatacca
     1201 aacatggggg tttggtaatg agaaaccagg acaggccatc tgcagtgacc cagcccagga
     1261 cgaagtttac aaacacctcc tggaacgaag ctcccgcctg catgtcacct tgatgggggc
     1321 tgtgagtggg gcagtgtgat acccagtgac tagacgcact ctgcgttttc ccgtgtttgg
     1381 ggctgaggcc tgctggacag atggctggcc aagtgggagc agaccctagg gagtttgcac
     1441 ctcggctggg ccggattcgg accggctctg tgttcactac actcagaata gcctggctgc
     1501 ttctctgtct ccgagaccgg aggtagtggg aaccaacagc tgggctggag agttggtgct
     1561 ggcaaaacag tccttgccct ggggccggtt cttacccagg tccagagaaa ccaacgcggg
     1621 atgtcagact tcaccaaaag gactttctgg ttgcccctgg ctggcttcct ggaggcgttc
     1681 gcctctagtt tctcagggat ggagcgagag cccagccaga gaacagtaag aggagctgct
     1741 ctcctatctg cactcaccca ggccttcacc cagactttac cacggaggcg gctgagtgca
     1801 gctacagcta ggtccgcgtc cctcactctt ttcatcttct gcacgttctt cgtgaaactg
     1861 gaaggatccc gggtctcagc tagaacacgg tggaagagaa ctttcctagg aaacggttca
     1921 tgtgtcactt ttcaggatgt ggaaacactg agccatacac cctccattgc ttggtgctgg
     1981 ggttgtgtgg cctccactgg gcacttgccg acctgagtct ggggccaggg gagcccaggc
     2041 tgccctgcac tcctgcctcc cagcccacag ccaggtgctt tcatcacagc taaacctggt
     2101 tccctccaaa cctcccagcc actcgggctt gtaactgtct gagccccgga tccggtgggg
     2161 tgaaagcagc cagctcatcc cagtgactca caggacacag ccatccagcg gcatctttcc
     2221 ttgtcgaatg atactgtaat gaccttccaa agtgaagagt agcacattaa agtgatttta
     2281 ttgtt
//
LOCUS       NM_000304               1828 bp    mRNA    linear   PRI 13-JUL-2023
DEFINITION  Homo sapiens peripheral myelin protein 22 (PMP22), transcript
            variant 1, mRNA.
ACCESSION   NM_000304
VERSION     NM_000304.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1828)
  AUTHORS   Van Lent J, Vendredy L, Adriaenssens E, Da Silva Authier T,
            Asselbergh B, Kaji M, Weckhuysen S, Van Den Bosch L, Baets J and
            Timmerman V.
  TITLE     Downregulation of PMP22 ameliorates myelin defects in iPSC-derived
            human organoid cultures of CMT1A
  JOURNAL   Brain 146 (7), 2885-2896 (2023)
   PUBMED   36511878
  REMARK    GeneRIF: Downregulation of PMP22 ameliorates myelin defects in
            iPSC-derived human organoid cultures of CMT1A.
REFERENCE   2  (bases 1 to 1828)
  AUTHORS   Stefanski KM, Li GC, Marinko JT, Carter BD, Samuels DC and Sanders
            CR.
  TITLE     How T118M peripheral myelin protein 22 predisposes humans to
            Charcot-Marie-Tooth disease
  JOURNAL   J Biol Chem 299 (2), 102839 (2023)
   PUBMED   36581210
  REMARK    GeneRIF: How T118M peripheral myelin protein 22 predisposes humans
            to Charcot-Marie-Tooth disease.
REFERENCE   3  (bases 1 to 1828)
  AUTHORS   Suter U, Snipes GJ, Schoener-Scott R, Welcher AA, Pareek S, Lupski
            JR, Murphy RA, Shooter EM and Patel PI.
  TITLE     Regulation of tissue-specific expression of alternative peripheral
            myelin protein-22 (PMP22) gene transcripts by two promoters
  JOURNAL   J Biol Chem 269 (41), 25795-25808 (1994)
   PUBMED   7929285
REFERENCE   4  (bases 1 to 1828)
  AUTHORS   Roa BB, Dyck PJ, Marks HG, Chance PF and Lupski JR.
  TITLE     Dejerine-Sottas syndrome associated with point mutation in the
            peripheral myelin protein 22 (PMP22) gene
  JOURNAL   Nat Genet 5 (3), 269-273 (1993)
   PUBMED   8275092
REFERENCE   5  (bases 1 to 1828)
  AUTHORS   Chrestian,N.
  TITLE     Hereditary Neuropathy with Liability to Pressure Palsies
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301566
REFERENCE   6  (bases 1 to 1828)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301532
REFERENCE   7  (bases 1 to 1828)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 1 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301384
REFERENCE   8  (bases 1 to 1828)
  AUTHORS   Takahashi E, Takeda O, Himoro M, Nanao K, Takada G and Hayasaka K.
  TITLE     Localization of PMP-22 gene (candidate gene for the
            Charcot-Marie-Tooth disease 1A) to band 17p11.2 by direct R-banding
            fluorescence in situ hybridization
  JOURNAL   Jpn J Hum Genet 37 (4), 303-306 (1992)
   PUBMED   1297450
REFERENCE   9  (bases 1 to 1828)
  AUTHORS   Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V,
            Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA,
            Chakravarti A and Patel PI.
  TITLE     DNA duplication associated with Charcot-Marie-Tooth disease type 1A
  JOURNAL   Cell 66 (2), 219-232 (1991)
   PUBMED   1677316
REFERENCE   10  (bases 1 to 1828)
  AUTHORS   Lewis,D.O.
  TITLE     Diagnostic evaluation of the juvenile offender: toward the
            clarification of often overlooked psychopathology
  JOURNAL   Child Psychiatry Hum Dev 6 (4), 198-213 (1976)
   PUBMED   954484
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.358008.1,
            SRR5189652.93701.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2162568 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000312280.9/ ENSP00000308937.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB504971.1, D11428.1,
            BQ212717.1 and CK818720.1.
            On Nov 22, 2018 this sequence version replaced NM_000304.3.
            Summary: This gene encodes an integral membrane protein that is a
            major component of myelin in the peripheral nervous system. Studies
            suggest two alternately used promoters drive tissue-specific
            expression. Various mutations of this gene are causes of
            Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and
            hereditary neuropathy with liability to pressure palsies.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2013].
            Transcript Variant: This variant (1) encodes isoform 1. Variants
            1-5 encode the same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1828
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p12"
     gene            1..1828
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /note="peripheral myelin protein 22"
                     /db_xref="GeneID:5376"
                     /db_xref="HGNC:HGNC:9118"
                     /db_xref="MIM:601097"
     misc_feature    1
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /note="transcription initiation site mapped in PubMed ID:
                     7929285; the 5' most initiation site has not been
                     determined"
     misc_feature    187..189
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /note="upstream in-frame stop codon"
     CDS             208..690
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /note="isoform 1 is encoded by transcript variant 1; growth
                     arrest-specific protein 3; peripheral myelin protein 22
                     kDa; Charcot-Marie-Tooth neuropathy 1A (greatly reduced
                     nerve conduction velocity, hereditary motor sensory
                     neuropathy Ia)"
                     /codon_start=1
                     /product="peripheral myelin protein 22 isoform 1"
                     /protein_id="NP_000295.1"
                     /db_xref="CCDS:CCDS11168.1"
                     /db_xref="GeneID:5376"
                     /db_xref="HGNC:HGNC:9118"
                     /db_xref="MIM:601097"
                     /translation="MLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCSTS
                     SSGNVHHCFSSSPNEWLQSVQATMILSIIFSILSLFLFFCQLFTLTKGGRFYITGIFQI
                     LAGLCVMSAAAIYTVRHPEWHLNSDYSYGFAYILAWVAFPLALLSGVIYVILRKRE"
     misc_feature    211..300
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01453.1);
                     transmembrane region"
     misc_feature    328..330
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q01453.1); glycosylation site"
     misc_feature    400..480
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01453.1);
                     transmembrane region"
     misc_feature    493..564
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01453.1);
                     transmembrane region"
     misc_feature    607..675
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01453.1);
                     transmembrane region"
     regulatory      1808..1813
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /note="hexamer: AATAAA"
     polyA_site      1828
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /note="major polyA site"
ORIGIN
        1 agttacaggg agcaccacca gggaacatct cggggagcct ggttggaagc tgcaggctta
       61 gtctgtcggc tgcgggtctc tgactgccct gtggggaggg tcttgcctta acatcccttg
      121 catttggctg caaagaaatc tgcttggaag aaggggttac gctgtttggc cgggcagaaa
      181 ctccgctgag cagaacttgc cgccagaatg ctcctcctgt tgctgagtat catcgtcctc
      241 cacgtcgcgg tgctggtgct gctgttcgtc tccacgatcg tcagccaatg gatcgtgggc
      301 aatggacacg caactgatct ctggcagaac tgtagcacct cttcctcagg aaatgtccac
      361 cactgtttct catcatcacc aaacgaatgg ctgcagtctg tccaggccac catgatcctg
      421 tcgatcatct tcagcattct gtctctgttc ctgttcttct gccaactctt caccctcacc
      481 aaggggggca ggttttacat cactggaatc ttccaaattc ttgctggtct gtgcgtgatg
      541 agtgctgcgg ccatctacac ggtgaggcac ccggagtggc atctcaactc ggattactcc
      601 tacggtttcg cctacatcct ggcctgggtg gccttccccc tggcccttct cagcggtgtc
      661 atctatgtga tcttgcggaa acgcgaatga ggcgcccaga cggtctgtct gaggctctga
      721 gcgtacatag ggaagggagg aagggaaaac agaaagcaga caaagaaaaa agagctagcc
      781 caaaatccca aactcaaacc aaaccaaaca gaaagcagtg gaggtggggg ttgctgttga
      841 ttgaagatgt atataatatc tccggtttat aaaacctatt tataacactt tttacatata
      901 tgtacatagt attgtttgct ttttatgttg accatcagcc tcgtgttgag ccttaaagaa
      961 gtagctaagg aactttacat cctaacagta taatccagct cagtattttt gttttgtttt
     1021 ttgtttgttt gttttgtttt acccagaaat aagataactc catctcgccc cttccctttc
     1081 atctgaaaga agatacctcc ctcccagtcc acctcattta gaaaaccaaa gtgtgggtag
     1141 aaaccccaaa tgtccaaaag cccttttctg gtgggtgacc cagtgcatcc aacagaaaca
     1201 gccgctgccc gaacctctgt gtgaagcttt acgcgcacac ggacaaaatg cccaaactgg
     1261 agcccttgca aaaacacggc ttgtggcatt ggcatacttg cccttacagg tggagtatct
     1321 tcgtcacaca tctaaatgag aaatcagtga caacaagtct ttgaaatggt gctatggatt
     1381 taccattcct tattatcact aatcatctaa acaactcact ggaaatccaa ttaacaattt
     1441 tacaacataa gatagaatgg agacctgaat aattctgtgt aatataaatg gtttataact
     1501 gcttttgtac ctagctaggc tgctattatt actataatga gtaaatcata aagccttcat
     1561 cactcccaca tttttcttac ggtcggagca tcagaacaag cgtctagact ccttgggacc
     1621 gtgagttcct agagcttggc tgggtctagg ctgttctgtg cctccaagga ctgtctggca
     1681 atgacttgta ttggccacca actgtagatg tatatatggt gcccttctga tgctaagact
     1741 ccagaccttt tgtttttgct ttgcattttc tgattttata ccaactgtgt ggactaagat
     1801 gcattaaaat aaacatcaga gtaactca
//
LOCUS       NM_000305               1610 bp    mRNA    linear   PRI 20-APR-2023
DEFINITION  Homo sapiens paraoxonase 2 (PON2), transcript variant 1, mRNA.
ACCESSION   NM_000305
VERSION     NM_000305.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1610)
  AUTHORS   Campagna R, Pozzi V, Giorgini S, Morichetti D, Goteri G, Sartini D,
            Serritelli EN and Emanuelli M.
  TITLE     Paraoxonase-2 is upregulated in triple negative breast cancer and
            contributes to tumor progression and chemoresistance
  JOURNAL   Hum Cell 36 (3), 1108-1119 (2023)
   PUBMED   36897549
  REMARK    GeneRIF: Paraoxonase-2 is upregulated in triple negative breast
            cancer and contributes to tumor progression and chemoresistance.
REFERENCE   2  (bases 1 to 1610)
  AUTHORS   Ye Y, Zhang J, Guo Y, Zhu J, Tang B and Fan P.
  TITLE     PON2 ameliorates Ang II-induced cardiomyocyte injury by targeting
            the CANX/NOX4 signaling pathway
  JOURNAL   Immun Inflamm Dis 11 (2), e765 (2023)
   PUBMED   36840500
  REMARK    GeneRIF: PON2 ameliorates Ang II-induced cardiomyocyte injury by
            targeting the CANX/NOX4 signaling pathway.
REFERENCE   3  (bases 1 to 1610)
  AUTHORS   Karlov VD, Pestov NB, Shakhparonov MI and Korneenko TV.
  TITLE     Interactome of Paraoxonase PON2 Reveals New Pathways for Tumor
            Growth Regulation
  JOURNAL   Dokl Biochem Biophys 508 (1), 31-36 (2023)
   PUBMED   36653584
  REMARK    GeneRIF: Interactome of Paraoxonase PON2 Reveals New Pathways for
            Tumor Growth Regulation.
REFERENCE   4  (bases 1 to 1610)
  AUTHORS   Campagna R, Belloni A, Pozzi V, Salvucci A, Notarstefano V, Togni L,
            Mascitti M, Sartini D, Giorgini E, Salvolini E, Santarelli A, Lo
            Muzio L and Emanuelli M.
  TITLE     Role Played by Paraoxonase-2 Enzyme in Cell Viability, Proliferation
            and Sensitivity to Chemotherapy of Oral Squamous Cell Carcinoma Cell
            Lines
  JOURNAL   Int J Mol Sci 24 (1), 338 (2022)
   PUBMED   36613780
  REMARK    GeneRIF: Role Played by Paraoxonase-2 Enzyme in Cell Viability,
            Proliferation and Sensitivity to Chemotherapy of Oral Squamous Cell
            Carcinoma Cell Lines. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1610)
  AUTHORS   Kumari S, Singh R, Chandra S, Mehndiratta M, Debnath E and Dhamija
            RK.
  TITLE     Association of Paraoxonase-2 (C1053G) Gene Polymorphism with the
            Expression of Paraoxonase-2 Gene in Patients of Ischemic Stroke - A
            Pilot Study in Indian Population
  JOURNAL   Neurol India 70 (4), 1575-1579 (2022)
   PUBMED   36076661
  REMARK    GeneRIF: Association of Paraoxonase-2 (C1053G) Gene Polymorphism
            with the Expression of Paraoxonase-2 Gene in Patients of Ischemic
            Stroke - A Pilot Study in Indian Population.
REFERENCE   6  (bases 1 to 1610)
  AUTHORS   Ng CJ, Shih DM, Hama SY, Villa N, Navab M and Reddy ST.
  TITLE     The paraoxonase gene family and atherosclerosis
  JOURNAL   Free Radic Biol Med 38 (2), 153-163 (2005)
   PUBMED   15607899
  REMARK    Review article
REFERENCE   7  (bases 1 to 1610)
  AUTHORS   Mochizuki H, Scherer SW, Xi T, Nickle DC, Majer M, Huizenga JJ, Tsui
            LC and Prochazka M.
  TITLE     Human PON2 gene at 7q21.3: cloning, multiple mRNA forms, and
            missense polymorphisms in the coding sequence
  JOURNAL   Gene 213 (1-2), 149-157 (1998)
   PUBMED   9714608
REFERENCE   8  (bases 1 to 1610)
  AUTHORS   Sanghera DK, Aston CE, Saha N and Kamboh MI.
  TITLE     DNA polymorphisms in two paraoxonase genes (PON1 and PON2) are
            associated with the risk of coronary heart disease
  JOURNAL   Am J Hum Genet 62 (1), 36-44 (1998)
   PUBMED   9443862
REFERENCE   9  (bases 1 to 1610)
  AUTHORS   Hegele RA, Connelly PW, Scherer SW, Hanley AJ, Harris SB, Tsui LC
            and Zinman B.
  TITLE     Paraoxonase-2 gene (PON2) G148 variant associated with elevated
            fasting plasma glucose in noninsulin-dependent diabetes mellitus
  JOURNAL   J Clin Endocrinol Metab 82 (10), 3373-3377 (1997)
   PUBMED   9329371
REFERENCE   10  (bases 1 to 1610)
  AUTHORS   Primo-Parmo SL, Sorenson RC, Teiber J and La Du BN.
  TITLE     The human serum paraoxonase/arylesterase gene (PON1) is one member
            of a multigene family
  JOURNAL   Genomics 33 (3), 498-507 (1996)
   PUBMED   8661009
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF001601.1, AK301313.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
            (PMID:15607899)
            MANE Ensembl match :: ENST00000222572.8/ ENSP00000222572.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB961097.1, AF001601.1 and
            BC040010.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000305.2.
            Summary: This gene encodes a member of the paraoxonase gene family,
            which includes three known members located adjacent to each other
            on the long arm of chromosome 7. The encoded protein is
            ubiquitously expressed in human tissues, membrane-bound, and may
            act as a cellular antioxidant, protecting cells from oxidative
            stress. Hydrolytic activity against acylhomoserine lactones,
            important bacterial quorum-sensing mediators, suggests the encoded
            protein may also play a role in defense responses to pathogenic
            bacteria. Mutations in this gene may be associated with vascular
            disease and a number of quantitative phenotypes related to
            diabetes. Alternatively spliced transcript variants encoding
            different isoforms have been described. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1610
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.3"
     gene            1..1610
                     /gene="PON2"
                     /note="paraoxonase 2"
                     /db_xref="GeneID:5445"
                     /db_xref="HGNC:HGNC:9205"
                     /db_xref="MIM:602447"
     misc_feature    15..17
                     /gene="PON2"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MAPPTELLARPERGSAPGSRA"
     CDS             78..1142
                     /gene="PON2"
                     /EC_number="3.1.1.2"
                     /EC_number="3.1.1.81"
                     /note="isoform 1 is encoded by transcript variant 1;
                     paraoxonase nirs; serum paraoxonase/arylesterase 2;
                     aromatic esterase 2; A-esterase 2; serum
                     aryldialkylphosphatase 2; PON 2"
                     /codon_start=1
                     /product="serum paraoxonase/arylesterase 2 isoform 1"
                     /protein_id="NP_000296.2"
                     /db_xref="CCDS:CCDS5640.1"
                     /db_xref="GeneID:5445"
                     /db_xref="HGNC:HGNC:9205"
                     /db_xref="MIM:602447"
                     /translation="MGRLVAVGLLGIALALLGERLLALRNRLKASREVESVDLPHCHLI
                     KGIEAGSEDIDILPNGLAFFSVGLKFPGLHSFAPDKPGGILMMDLKEEKPRARELRISR
                     GFDLASFNPHGISTFIDNDDTVYLFVVNHPEFKNTVEIFKFEEAENSLLHLKTVKHELL
                     PSVNDITAVGPAHFYATNDHYFSDPFLKYLETYLNLHWANVVYYSPNEVKVVAEGFDSA
                     NGINISPDDKYIYVADILAHEIHVLEKHTNMNLTQLKVLELDTLVDNLSIDPSSGDIWV
                     GCHPNGQKLFVYDPNNPPSSEVLRIQNILSEKPTVTTVYANNGSVLQGSSVASVYDGKL
                     LIGTLYHRALYCEL"
     misc_feature    837..839
                     /gene="PON2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q15165.4); glycosylation site"
     misc_feature    882..884
                     /gene="PON2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q15165.4); glycosylation site"
     misc_feature    1044..1046
                     /gene="PON2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q15165.4); glycosylation site"
     regulatory      1588..1593
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PON2"
                     /note="hexamer: ATTAAA"
     polyA_site      1610
                     /gene="PON2"
                     /note="major polyA site"
ORIGIN
        1 atcgagccgg gaagatggca ccgcccacgg agctgctggc caggccggag cgaggcagcg
       61 cgcccggctc ccgcgccatg gggcggctgg tggctgtggg cttgctgggg atcgcgctgg
      121 cgctcctggg cgagaggctt ctggcactca gaaatcgact taaagcctcc agagaagtag
      181 aatctgtaga ccttccacac tgccacctga ttaaaggaat tgaagctggc tctgaagata
      241 ttgacatact tcccaatggt ctggcttttt ttagtgtggg tctaaaattc ccaggactcc
      301 acagctttgc accagataag cctggaggaa tactaatgat ggatctaaaa gaagaaaaac
      361 caagggcacg ggaattaaga atcagtcgtg ggtttgattt ggcctcattc aatccacatg
      421 gcatcagcac tttcatagac aacgatgaca cagtttatct ctttgttgta aaccacccag
      481 aattcaagaa tacagtggaa atttttaaat ttgaagaagc agaaaattct ctgttgcatc
      541 tgaaaacagt caaacatgag cttcttccaa gtgtgaatga catcacagct gttggaccgg
      601 cacatttcta tgccacaaat gaccactact tctctgatcc tttcttaaag tatttagaaa
      661 catacttgaa cttacactgg gcaaatgttg tttactacag tccaaatgaa gttaaagtgg
      721 tagcagaagg atttgattca gcaaatggga tcaatatttc acctgatgat aagtatatct
      781 atgttgctga catattggct catgaaattc atgttttgga aaaacacact aatatgaatt
      841 taactcagtt gaaggtactt gagctggata cactggtgga taatttatct attgatcctt
      901 cctcggggga catctgggta ggctgtcatc ctaatggcca gaagctcttc gtgtatgacc
      961 cgaacaatcc tccctcgtca gaggttctcc gcatccagaa cattctatct gagaagccta
     1021 cagtgactac agtttatgcc aacaatgggt ctgttctcca aggaagttct gtagcctcag
     1081 tgtatgatgg gaagctgctc ataggcactt tataccacag agccttgtat tgtgaactct
     1141 aaattgtact tttggcatga aagtgcgata acttaacaat taattttcta tgaattgcta
     1201 attctgaggg aatttaacca gcaacattga cccagaaatg tatggcatgt gtagttaatt
     1261 ttattccagt aaggaacggc ccttttagtt cttagagcac ttttaacaaa aaaggaaaat
     1321 gaacaggttc tttaaaatgc caagcaaggg acagaaaaga aagctgcttt cgaataaagt
     1381 gaatacattt tgcacaaagt aagcctcacc tttgccttcc aactgccaga acatggattc
     1441 cactgaaata gagtgaatta tatttcctta aaatgtgagt gacctcactt ctggcactgt
     1501 gactactatg gctgtttaga actactgata acgtattttg atgttttgta cttacatctt
     1561 tgtttaccat taaaaagttg gagttatatt aaagactaac taaaatccca
//
LOCUS       NM_000306               1488 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant
            alpha, mRNA.
ACCESSION   NM_000306
VERSION     NM_000306.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1488)
  AUTHORS   Asa SL, Mete O, Riddle ND and Perry A.
  TITLE     Multilineage Pituitary Neuroendocrine Tumors (PitNETs) Expressing
            PIT1 and SF1
  JOURNAL   Endocr Pathol 34 (3), 273-278 (2023)
   PUBMED   37268858
  REMARK    GeneRIF: Multilineage Pituitary Neuroendocrine Tumors (PitNETs)
            Expressing PIT1 and SF1.
REFERENCE   2  (bases 1 to 1488)
  AUTHORS   Bando H, Brinkmeier ML, Castinetti F, Fang Q, Lee MS, Saveanu A,
            Albarel F, Dupuis C, Brue T and Camper SA.
  TITLE     Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone
            deficiency in mouse and man
  JOURNAL   Hum Mol Genet 32 (3), 367-385 (2023)
   PUBMED   35951005
  REMARK    GeneRIF: Heterozygous variants in SIX3 and POU1F1 cause pituitary
            hormone deficiency in mouse and man.
REFERENCE   3  (bases 1 to 1488)
  AUTHORS   Hassan SS, Abdullah M, Trebusak Podkrajsek K, Musa S, Ibrahim A,
            Babiker O, Kovac J, Battelino T and Avbelj Stefanija M.
  TITLE     A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined
            Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees
  JOURNAL   Genes (Basel) 13 (4), 657 (2022)
   PUBMED   35456463
  REMARK    GeneRIF: A Novel Splice-Site Deletion in the POU1F1 Gene Causes
            Combined Pituitary Hormone Deficiency in Multiple Sudanese
            Pedigrees. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1488)
  AUTHORS   Musa N, Elmonem MA, Beetz C, Hafez M, Hassan M, Rolfs A, Selim L and
            Elkhateeb N.
  TITLE     A novel POU1F1 pathogenic variant: Two familial case reports with
            phenotype expansion
  JOURNAL   Clin Genet 100 (5), 641-642 (2021)
   PUBMED   34378789
  REMARK    GeneRIF: A novel POU1F1 pathogenic variant: Two familial case
            reports with phenotype expansion.
REFERENCE   5  (bases 1 to 1488)
  AUTHORS   Tang C, Lei X, Xiong L, Hu Z and Tang B.
  TITLE     HMGA1B/2 transcriptionally activated-POU1F1 facilitates gastric
            carcinoma metastasis via CXCL12/CXCR4 axis-mediated macrophage
            polarization
  JOURNAL   Cell Death Dis 12 (5), 422 (2021)
   PUBMED   33927188
  REMARK    GeneRIF: HMGA1B/2 transcriptionally activated-POU1F1 facilitates
            gastric carcinoma metastasis via CXCL12/CXCR4 axis-mediated
            macrophage polarization. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1488)
  AUTHORS   Ohta K, Nobukuni Y, Mitsubuchi H, Ohta T, Tohma T, Jinno Y, Endo F
            and Matsuda I.
  TITLE     Characterization of the gene encoding human pituitary-specific
            transcription factor, Pit-1
  JOURNAL   Gene 122 (2), 387-388 (1992)
   PUBMED   1487156
REFERENCE   7  (bases 1 to 1488)
  AUTHORS   Ohta K, Nobukuni Y, Mitsubuchi H, Fujimoto S, Matsuo N, Inagaki H,
            Endo F and Matsuda I.
  TITLE     Mutations in the Pit-1 gene in children with combined pituitary
            hormone deficiency
  JOURNAL   Biochem Biophys Res Commun 189 (2), 851-855 (1992)
   PUBMED   1472057
REFERENCE   8  (bases 1 to 1488)
  AUTHORS   Radovick S, Nations M, Du Y, Berg LA, Weintraub BD and Wondisford
            FE.
  TITLE     A mutation in the POU-homeodomain of Pit-1 responsible for combined
            pituitary hormone deficiency
  JOURNAL   Science 257 (5073), 1115-1118 (1992)
   PUBMED   1509262
REFERENCE   9  (bases 1 to 1488)
  AUTHORS   Tatsumi K, Miyai K, Notomi T, Kaibe K, Amino N, Mizuno Y and Kohno
            H.
  TITLE     Cretinism with combined hormone deficiency caused by a mutation in
            the PIT1 gene
  JOURNAL   Nat Genet 1 (1), 56-58 (1992)
   PUBMED   1302000
REFERENCE   10  (bases 1 to 1488)
  AUTHORS   Tatsumi K, Notomi T, Amino N and Miyai K.
  TITLE     Nucleotide sequence of the complementary DNA for human Pit-1/GHF-1
  JOURNAL   Biochim Biophys Acta 1129 (2), 231-234 (1992)
   PUBMED   1370379
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: D10216.1, X62429.1 [ECO:0000332]
            RNAseq introns :: partial sample support SAMEA2158188, SAMEA2162895
            [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000350375.7/ ENSP00000263781.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D10216.1, KF457648.1 and
            AC130885.3.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000306.3.
            Summary: This gene encodes a member of the POU family of
            transcription factors that regulate mammalian development. The
            protein regulates expression of several genes involved in pituitary
            development and hormone expression. Mutations in this genes result
            in combined pituitary hormone deficiency. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (alpha) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant beta,
            resulting in a shorter protein (isoform alpha).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1488
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p11.2"
     gene            1..1488
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /note="POU class 1 homeobox 1"
                     /db_xref="GeneID:5449"
                     /db_xref="HGNC:HGNC:9210"
                     /db_xref="MIM:173110"
     misc_feature    75..77
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /note="upstream in-frame stop codon"
     CDS             123..998
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /note="isoform alpha is encoded by transcript variant
                     alpha; growth hormone factor 1; pituitary-specific positive
                     transcription factor 1; POU domain, class 1, transcription
                     factor 1; pituitary transcript factor 1"
                     /codon_start=1
                     /product="pituitary-specific positive transcription factor
                     1 isoform alpha"
                     /protein_id="NP_000297.1"
                     /db_xref="CCDS:CCDS2919.1"
                     /db_xref="GeneID:5449"
                     /db_xref="HGNC:HGNC:9210"
                     /db_xref="MIM:173110"
                     /translation="MSCQAFTSADTFIPLNSDASATLPLIMHHSAAECLPVSNHATNVM
                     STATGLHYSVPSCHYGNQPSTYGVMAGSLTPCLYKFPDHTLSHGFPPIHQPLLAEDPTA
                     ADFKQELRRKSKLVEEPIDMDSPEIRELEKFANEFKVRRIKLGYTQTNVGEALAAVHGS
                     EFSQTTICRFENLQLSFKNACKLKAILSKWLEEAEQVGALYNEKVGANERKRKRRTTIS
                     IAAKDALERHFGEQNKPSSQEIMRMAEELNLEKEVVRVWFCNRRQREKRVKTSLNQSLF
                     SISKEHLECR"
     misc_feature    135..161
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /note="propagated from UniProtKB/Swiss-Prot (P28069.1);
                     Region: 9aaTAD. /evidence=ECO:0000269|PubMed:34342803"
     regulatory      1240..1245
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /note="hexamer: AATAAA"
     polyA_site      1259
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /note="major polyA site"
ORIGIN
        1 agagccttcc tgatgtatat atgcaggtag tgagaattga atcggccctt tgagacagta
       61 atataataaa actctgattt ggggagcagc ggttctcctt atttttctac tctcttgtgg
      121 gaatgagttg ccaagctttt acttcggctg atacctttat acctctgaat tctgacgcct
      181 ctgcaactct gcctctgata atgcatcaca gtgctgccga gtgtctacca gtctccaacc
      241 atgccaccaa tgtgatgtct acagcaacag gacttcatta ttctgttcct tcctgtcatt
      301 atggaaacca gccatcaacc tatggagtga tggcaggtag tttaacccct tgtctttata
      361 aatttcctga ccacaccttg agtcatggat ttcctcctat acaccagcct cttctggcag
      421 aggaccccac agctgctgat ttcaagcagg aactcaggcg gaaaagtaaa ttggtggaag
      481 agccaataga catggattct ccagaaatca gagaacttga aaagtttgcc aatgaattta
      541 aagtgagacg aattaaatta ggatacaccc agacaaatgt tggggaggcc ctggcagctg
      601 tgcatggctc tgaattcagt caaacaacaa tctgccgatt tgaaaatctg cagctcagct
      661 ttaaaaatgc atgcaaactg aaagcaatat tatccaaatg gctggaggaa gctgagcaag
      721 taggagcttt gtacaatgaa aaagtgggag caaatgaaag gaaaagaaaa cgaagaacaa
      781 ctataagcat tgctgctaaa gatgctctgg agagacactt tggagaacag aataaacctt
      841 cttctcaaga gatcatgagg atggctgaag aactgaatct ggagaaagaa gtagtaagag
      901 tttggttttg caaccggagg cagagagaaa aacgggtgaa aacaagtctg aatcagagtt
      961 tattttctat ttctaaggaa catcttgagt gcagataaga tttttctatt gtataatagc
     1021 ctttttctcc cgtttcattc ctttctcttc ctcaacaaaa acagaaatta cttggttgac
     1081 ttaaaatcat tttatatcaa tagcttttac agaagcttta cttttccact tttttttaaa
     1141 aaaaagaaac caacaattta aattatattg atgttattta cttaaaataa ttattctcag
     1201 aagccacatt atctatttta agccaaatat attaacagta ataaaatgat ctctctgtct
     1261 ctcccgctct ctttctcaca cacacgcaga catatgagta tgggtttata agttcctttt
     1321 ccaaacatgt atattagctt tttaacatgt aagtcagtaa tgacacatat gtaaagcaca
     1381 tcaccagaaa tatccaattc aaaaattaac caatgttctg ctttctacca actctactaa
     1441 tttgtctgaa ctaaaagttt tgaacttaag agctggaggt gtcttata
//
LOCUS       NM_000307               3838 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.
ACCESSION   NM_000307
VERSION     NM_000307.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3838)
  AUTHORS   Masawa M, Sato-Yazawa H, Kashiwagi K, Ishii J, Miyata-Hiramatsu C,
            Iwamoto M, Kohno K, Miyazawa T, Onozaki M, Noda S, Shimizu Y, Niho S
            and Yazawa T.
  TITLE     REST Inactivation and Coexpression of ASCL1 and POU3F4 Are Necessary
            for the Complete Transformation of RB1/TP53-Inactivated Lung
            Adenocarcinoma into Neuroendocrine Carcinoma
  JOURNAL   Am J Pathol 192 (6), 847-861 (2022)
   PUBMED   35367201
  REMARK    GeneRIF: REST Inactivation and Coexpression of ASCL1 and POU3F4 Are
            Necessary for the Complete Transformation of RB1/TP53-Inactivated
            Lung Adenocarcinoma into Neuroendocrine Carcinoma.
REFERENCE   2  (bases 1 to 3838)
  AUTHORS   Smeds H, Wales J, Karltorp E, Anderlid BM, Henricson C, Asp F, Anmyr
            L, Lagerstedt-Robinson K and Lofkvist U.
  TITLE     X-linked Malformation Deafness: Neurodevelopmental Symptoms Are
            Common in Children With IP3 Malformation and Mutation in POU3F4
  JOURNAL   Ear Hear 43 (1), 53-69 (2022)
   PUBMED   34133399
  REMARK    GeneRIF: X-linked Malformation Deafness: Neurodevelopmental Symptoms
            Are Common in Children With IP3 Malformation and Mutation in POU3F4.
REFERENCE   3  (bases 1 to 3838)
  AUTHORS   Jiang Y, Wu L, Huang S, Li P, Gao B, Yuan Y, Zhang S, Yu G, Gao Y,
            Wu H and Dai P.
  TITLE     Study of complex structural variations of X-linked deafness-2 based
            on single-molecule sequencing
  JOURNAL   Biosci Rep 41 (6) (2021)
   PUBMED   33860785
  REMARK    GeneRIF: Study of complex structural variations of X-linked
            deafness-2 based on single-molecule sequencing.
REFERENCE   4  (bases 1 to 3838)
  AUTHORS   Mei X, Zhou Y, Amjad M, Yang W, Zhu R, Asif M, Hussain HMJ, Yang T,
            Iqbal F and Hu H.
  TITLE     Next-Generation Sequencing Identifies Pathogenic Variants in HGF,
            POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families
  JOURNAL   Neural Plast 2021, 5528434 (2021)
   PUBMED   33976695
  REMARK    GeneRIF: Next-Generation Sequencing Identifies Pathogenic Variants
            in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf
            Families. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3838)
  AUTHORS   Malik KF, Jaffe H, Brady J and Young WS 3rd.
  TITLE     The class III POU factor Brn-4 interacts with other class III POU
            factors and the heterogeneous nuclear ribonucleoprotein U
  JOURNAL   Brain Res Mol Brain Res 45 (1), 99-107 (1997)
   PUBMED   9105675
REFERENCE   6  (bases 1 to 3838)
  AUTHORS   Engelkamp D and van Heyningen V.
  TITLE     Transcription factors in disease
  JOURNAL   Curr Opin Genet Dev 6 (3), 334-342 (1996)
   PUBMED   8791518
  REMARK    Review article
REFERENCE   7  (bases 1 to 3838)
  AUTHORS   Bitner-Glindzicz M, Turnpenny P, Hoglund P, Kaariainen H, Sankila
            EM, van der Maarel SM, de Kok YJ, Ropers HH, Cremers FP, Pembrey M
            et al.
  TITLE     Further mutations in Brain 4 (POU3F4) clarify the phenotype in the
            X-linked deafness, DFN3
  JOURNAL   Hum Mol Genet 4 (8), 1467-1469 (1995)
   PUBMED   7581392
REFERENCE   8  (bases 1 to 3838)
  AUTHORS   de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco
            AP, Malcolm S, Pembrey ME, Ropers HH and Cremers FP.
  TITLE     Association between X-linked mixed deafness and mutations in the POU
            domain gene POU3F4
  JOURNAL   Science 267 (5198), 685-688 (1995)
   PUBMED   7839145
REFERENCE   9  (bases 1 to 3838)
  AUTHORS   Douville PJ, Atanasoski S, Tobler A, Fontana A and Schwab ME.
  TITLE     The brain-specific POU-box gene Brn4 is a sex-linked transcription
            factor located on the human and mouse X chromosomes
  JOURNAL   Mamm Genome 5 (3), 180-182 (1994)
   PUBMED   7911044
REFERENCE   10  (bases 1 to 3838)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Schaefer,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301607
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: X82324.1, AK314967.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000644024.2/ ENSP00000495996.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK314967.1, Z82170.3 and
            X82324.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000307.4.
            Summary: This gene encodes a member of the POU-III class of neural
            transcription factors. This family member plays a role in inner ear
            development. The protein is thought to be involved in the mediation
            of epigenetic signals which induce striatal neuron-precursor
            differentiation. Mutations in this gene are associated with X
            chromosome-linked nonsyndromic mixed deafness. [provided by RefSeq,
            Dec 2012].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..3838
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.1"
     gene            1..3838
                     /gene="POU3F4"
                     /gene_synonym="BRAIN-4; BRN-4; BRN4; DFN3; DFNX2; OCT-9;
                     OTF-9; OTF9"
                     /note="POU class 3 homeobox 4"
                     /db_xref="GeneID:5456"
                     /db_xref="HGNC:HGNC:9217"
                     /db_xref="MIM:300039"
     CDS             36..1121
                     /gene="POU3F4"
                     /gene_synonym="BRAIN-4; BRN-4; BRN4; DFN3; DFNX2; OCT-9;
                     OTF-9; OTF9"
                     /note="octamer-binding transcription factor 9;
                     brain-specific homeobox/POU domain protein 4"
                     /codon_start=1
                     /product="POU domain, class 3, transcription factor 4"
                     /protein_id="NP_000298.3"
                     /db_xref="CCDS:CCDS14450.1"
                     /db_xref="GeneID:5456"
                     /db_xref="HGNC:HGNC:9217"
                     /db_xref="MIM:300039"
                     /translation="MATAASNPYSILSSTSLVHADSAGMQQGSPFRNPQKLLQSDYLQG
                     VPSNGHPLGHHWVTSLSDGGPWSSTLATSPLDQQDVKPGREDLQLGAIIHHRSPHVAHH
                     SPHTNHPNAWGASPAPNPSITSSGQPLNVYSQPGFTVSGMLEHGGLTPPPAAASAQSLH
                     PVLREPPDHGELGSHHCQDHSDEETPTSDELEQFAKQFKQRRIKLGFTQADVGLALGTL
                     YGNVFSQTTICRFEALQLSFKNMCKLKPLLNKWLEEADSSTGSPTSIDKIAAQGRKRKK
                     RTSIEVSVKGVLETHFLKCPKPAAQEISSLADSLQLEKEVVRVWFCNRRQKEKRMTPPG
                     DQQPHEVYSHTVKTDTSCHDL"
     misc_feature    330..428
                     /gene="POU3F4"
                     /gene_synonym="BRAIN-4; BRN-4; BRN4; DFN3; DFNX2; OCT-9;
                     OTF-9; OTF9"
                     /note="propagated from UniProtKB/Swiss-Prot (P49335.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    465..611
                     /gene="POU3F4"
                     /gene_synonym="BRAIN-4; BRN-4; BRN4; DFN3; DFNX2; OCT-9;
                     OTF-9; OTF9"
                     /note="propagated from UniProtKB/Swiss-Prot (P49335.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    828..830
                     /gene="POU3F4"
                     /gene_synonym="BRAIN-4; BRN-4; BRN4; DFN3; DFNX2; OCT-9;
                     OTF-9; OTF9"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P20265; propagated from
                     UniProtKB/Swiss-Prot (P49335.2); phosphorylation site"
ORIGIN
        1 gccacattat aactagtagg ggatcctcac cgaccatggc cacagctgcc tcgaatccct
       61 acagcattct cagttccacc tccctagtcc atgcggactc tgcgggcatg cagcagggga
      121 gtcctttccg caaccctcag aaacttctcc aaagtgatta cttgcaggga gttcccagca
      181 atgggcatcc cctcgggcat cactgggtga ccagtctgag cgacgggggc ccatggtcct
      241 ccacactggc caccagcccc ctggaccagc aggacgtgaa gcccgggcgc gaagacctgc
      301 aactgggtgc gatcatccat caccgctcgc cacacgtagc ccaccactca ccgcacacta
      361 accaccccaa cgcctggggg gccagcccgg caccgaaccc gtctatcacg tcaagcggcc
      421 aacccctcaa cgtgtactcg cagcctggct tcaccgtgag cggcatgctg gaacacgggg
      481 gactcacccc acctccagct gccgcctctg cacagagcct gcacccggtg ctccgagagc
      541 ccccggatca cggcgaactg ggctcgcacc attgccagga tcactccgac gaggagacgc
      601 caacctctga tgagttggaa cagttcgcca aacaattcaa acaaagaaga atcaagttgg
      661 gcttcacgca ggccgacgtg gggttggcgc tgggcacact gtatggtaac gtgttctcgc
      721 agaccaccat ctgcaggttc gaggccttgc agctgagctt caaaaatatg tgcaagctga
      781 agcccctgct gaacaagtgg ctggaggagg cggattcgtc cacagggagc ccgaccagca
      841 ttgacaagat cgctgcacag ggccgcaagc gcaagaagcg gacctccatc gaggtgagtg
      901 tcaagggcgt actggagacg catttcctca agtgtcccaa gcctgccgcg caggagatct
      961 cctcgctggc agacagcctc cagttggaga aggaagtggt gcgtgtctgg ttctgtaatc
     1021 gaagacaaaa agagaaaaga atgactccgc caggggatca gcagccgcat gaggtttatt
     1081 cgcacaccgt gaaaacagac acatcttgcc atgatctctg actggaggaa gcgaggaggc
     1141 ggccggccgc actgggagca gcgcggattt ctctttctct ctcactctct tcctttcatt
     1201 ctagtattct ttattatttt tctctctctc tcgttcgctc gctctctcgt actctctctc
     1261 ttttccctcc tttccttttt ctttcctttc ccctttttct ttcccttctt tttccctttc
     1321 ctttcctttc attttctttc ctttcccctt cccttccctt cccttccatc tcttcctttc
     1381 ctttcctttc ttttcttttg ctttcctttc ctttttttcc cttttctttc cttttcataa
     1441 gaggttctaa cttctgttga caaaggaaac acatactctc tcattcaggc ttctcaatgc
     1501 tgatacacag ttacattaag cagtccaagc tgggatctca tattcctggc tccccgggca
     1561 acagttccct ttagcctttt ctgctgatca atacatattg tttactcaga gtaaggtttg
     1621 tttggtcgct cctctctagg aagaacaagg agtgggataa cgtgggggcg gggtggggcg
     1681 ggggagggat tgggaagaca gatgtgtgcc tctgaataac ctttcagcgc cttggttata
     1741 gcagctgtat ttcaggtgaa atttgtttta caatagacta gttttgcatt tttaaaaact
     1801 tctatagcgt ttctaaatgt ctgcggtgtt ttactacaat ctgtacacaa tatttgtgag
     1861 ataatttgta tctaatcgac cactccatgt tattattgct attattatta ctacttcgtt
     1921 gagctgatgg ctttttaatt gcttagaaaa gggaggagat gaatgggaat aggcggggag
     1981 agagatgcct atctactcac cgcccccccc cttcccaaat ctctatgagg aggagaggat
     2041 acaacgaaga gagttattga tgatgatatt ggttatattt tttttccggg gtggagtgcc
     2101 taggaagggc agaataggga agcctattag gtttgcaaac tagtgcgaag tagcagcggc
     2161 gatttcgcag ctttctgccc tccctcctgg aagtgtggag cccgcgcagg ctaccgcagc
     2221 atagatcgag gtatctgaga aggattcggc ggcaactctg ggccaaagag gtggcctgac
     2281 agtctgggag ggctccgcac tcaccggact ccaggattcc tgcgcgcaga aatccaggcc
     2341 cccagcctcg ctagggcgac cttccgcgcg acctcacttc ggccctccta gaggaaagac
     2401 tttgccttca cacgcgatta ctttcactgg agatcacgac ccggagacgc tggcgactgg
     2461 gccagcgcct cccatttcgg ttcacctcca gttcaccgcc ccctctgagt aagaaaccct
     2521 tggggagggg tggcgaggga gtgggggata ggcattctct gctcagtgca gaacggcaat
     2581 gaaatgattg gcaaaggtca cagggattct ggtccatccg cgtaccacct ctccccccat
     2641 gtatataccg ctgtctgtgt gtgggctcgt ggggagctgt ctcggcgttt ctgataagca
     2701 cagctggtgg aagcccacag cgacgatcca gcgagctagc gagcgcccgg gaggctgggt
     2761 tcctgctttt taaaatataa atatatatat atttttaaat ctctgtgtgt atgtgtctct
     2821 gtgcgtgtgt gtgtgtgcgt gcgcgtgcaa acgtgtgtgt gtagatagct gtgtgtatcg
     2881 cgttactatg tacaaaaaca aaaagtacaa aaaaaaaaaa aaacctggct aggctgtgta
     2941 gagatcccaa aaatatgcag ttgctgtggc tttattgcta gctagtatcc acacaccagg
     3001 tccacaggcg aacctcattc ccaaggagca cacacgtgtg aggccggcca agcacccaac
     3061 acccagccgc cgccggccag acctggctgg gggcgctgca cgccactgct ggccgcctag
     3121 tccggccttt aggcgcagct gctgtagaca aagcttcaaa ctacctaagg accagaaagc
     3181 ccggcccggt tgtcgaggat gcgttagtat gagttgccag gcctctggtc caccacactg
     3241 tgtctccctc agctgcaggt cgaagagcat gtgttaattc aaatcccgga cccttctact
     3301 tttttgtcaa gtctctgcat tctgttggta gttaggtttt agttctggga ttttattttt
     3361 ttttccccca cactgagttc atgttttaca actgttggga gttttttgtt tgtttcgatt
     3421 ttttttcttt gcagttaatt gctatggttc gaacctgagt taacccaaat atttctgccg
     3481 actttataac tgtacagttt tgtatattaa acgtttttga agttattaat ttaaagaaag
     3541 atcatttagt ttattcattt agtaactgat gtataataaa cgctattttc attaagagtt
     3601 gctttttcaa ctattttatt caaattgcct attgcagttg ccaacaatta tttattttca
     3661 ataaattctg cattgtgttt aaaaggaaat tctttcacag ataagttgga tgtcaaaaag
     3721 aaaacaattc gctgtaatgt ttgatgtgaa gttttagtca aggggtttat attgacgcaa
     3781 tattttattg ttgtaaaaga ttaaaaaggt ttaaataaaa catttttcca aaaaaaaa
//
LOCUS       NM_000308               1858 bp    mRNA    linear   PRI 19-JUN-2023
DEFINITION  Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.
ACCESSION   NM_000308
VERSION     NM_000308.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1858)
  AUTHORS   Sun W, Wang J, Wang Z, Xu M, Lin Q, Sun P and Yuan Y.
  TITLE     Combining WGCNA and machine learning to construct basement
            membrane-related gene index helps to predict the prognosis and tumor
            microenvironment of HCC patients and verifies the carcinogenesis of
            key gene CTSA
  JOURNAL   Front Immunol 14, 1185916 (2023)
   PUBMED   37287981
  REMARK    GeneRIF: Combining WGCNA and machine learning to construct basement
            membrane-related gene index helps to predict the prognosis and tumor
            microenvironment of HCC patients and verifies the carcinogenesis of
            key gene CTSA. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1858)
  AUTHORS   Zhao X, Chai W, Wang T, Chen X, Zhang L, Li F and Liu R.
  TITLE     Identification of the prognostic, diagnostic, and biological
            significance of the miR-148a-3p/cathepsin A axis in hepatocellular
            carcinoma
  JOURNAL   J Biochem Mol Toxicol 36 (12), e23208 (2022)
   PUBMED   36065643
  REMARK    GeneRIF: Identification of the prognostic, diagnostic, and
            biological significance of the miR-148a-3p/cathepsin A axis in
            hepatocellular carcinoma.
REFERENCE   3  (bases 1 to 1858)
  AUTHORS   Sung YS, Putman J, Du S and Armstrong DW.
  TITLE     Enhanced carboxypeptidase efficacies and differentiation of peptide
            epimers
  JOURNAL   Anal Biochem 642, 114451 (2022)
   PUBMED   34774536
  REMARK    GeneRIF: Enhanced carboxypeptidase efficacies and differentiation of
            peptide epimers.
REFERENCE   4  (bases 1 to 1858)
  AUTHORS   Hu B, Zhu X and Lu J.
  TITLE     Cathepsin A knockdown decreases the proliferation and invasion of
            A549 lung adenocarcinoma cells
  JOURNAL   Mol Med Rep 21 (6), 2553-2559 (2020)
   PUBMED   32323791
  REMARK    GeneRIF: Cathepsin A knockdown decreases the proliferation and
            invasion of A549 lung adenocarcinoma cells.
REFERENCE   5  (bases 1 to 1858)
  AUTHORS   Bonten EJ, Annunziata I and d'Azzo A.
  TITLE     Lysosomal multienzyme complex: pros and cons of working together
  JOURNAL   Cell Mol Life Sci 71 (11), 2017-2032 (2014)
   PUBMED   24337808
  REMARK    Review article
REFERENCE   6  (bases 1 to 1858)
  AUTHORS   Morreau H, Galjart NJ, Willemsen R, Gillemans N, Zhou XY and d'Azzo
            A.
  TITLE     Human lysosomal protective protein. Glycosylation, intracellular
            transport, and association with beta-galactosidase in the
            endoplasmic reticulum
  JOURNAL   J Biol Chem 267 (25), 17949-17956 (1992)
   PUBMED   1387645
REFERENCE   7  (bases 1 to 1858)
  AUTHORS   Halal F, Chitayat D, Parikh H, Rosenblatt B, Tranchemontagne J,
            Vekemans M and Potier M.
  TITLE     Ring chromosome 20 and possible assignment of the structural gene
            encoding human carboxypeptidase-L to the distal segment of the long
            arm of chromosome 20
  JOURNAL   Am J Med Genet 43 (3), 576-579 (1992)
   PUBMED   1605251
REFERENCE   8  (bases 1 to 1858)
  AUTHORS   Zhou XY, Galjart NJ, Willemsen R, Gillemans N, Galjaard H and d'Azzo
            A.
  TITLE     A mutation in a mild form of galactosialidosis impairs dimerization
            of the protective protein and renders it unstable
  JOURNAL   EMBO J 10 (13), 4041-4048 (1991)
   PUBMED   1756715
REFERENCE   9  (bases 1 to 1858)
  AUTHORS   Galjart NJ, Morreau H, Willemsen R, Gillemans N, Bonten EJ and
            d'Azzo A.
  TITLE     Human lysosomal protective protein has cathepsin A-like activity
            distinct from its protective function
  JOURNAL   J Biol Chem 266 (22), 14754-14762 (1991)
   PUBMED   1907282
REFERENCE   10  (bases 1 to 1858)
  AUTHORS   Jackman HL, Tan FL, Tamei H, Beurling-Harbury C, Li XY, Skidgel RA
            and Erdos EG.
  TITLE     A peptidase in human platelets that deamidates tachykinins. Probable
            identity with the lysosomal 'protective protein'
  JOURNAL   J Biol Chem 265 (19), 11265-11272 (1990)
   PUBMED   1694176
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC093009.1, AK312898.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000646241.3/ ENSP00000493613.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC093009.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 18, 2019 this sequence version replaced NM_000308.3.
            Summary: This gene encodes a member of the peptidase S10 family of
            serine carboxypeptidases. Alternative splicing results in multiple
            transcript variants, at least one of which encodes a preproprotein
            that is proteolytically processed to generate two chains that
            comprise the heterodimeric active enzyme. This enzyme possesses
            deamidase, esterase and carboxypeptidase activities and acts as a
            scaffold in the lysosomal multienzyme complex. Mutations in this
            gene are associated with galactosialidosis. [provided by RefSeq,
            Nov 2015].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). This isoform (a) may undergo proteolytic processing similar to
            isoform (b).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1858
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..1858
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /note="cathepsin A"
                     /db_xref="GeneID:5476"
                     /db_xref="HGNC:HGNC:9251"
                     /db_xref="MIM:613111"
     CDS             46..1488
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /EC_number="3.4.16.5"
                     /note="isoform b preproprotein is encoded by transcript
                     variant 1; beta-galactosidase 2; lysosomal protective
                     protein; deamidase; beta-galactosidase protective protein;
                     carboxypeptidase C; protective protein cathepsin A; urinary
                     kininase; carboxypeptidase-L; lysosomal carboxypeptidase A;
                     carboxypeptidase Y-like kininase"
                     /codon_start=1
                     /product="lysosomal protective protein isoform b
                     preproprotein"
                     /protein_id="NP_000299.3"
                     /db_xref="CCDS:CCDS46609.1"
                     /db_xref="GeneID:5476"
                     /db_xref="HGNC:HGNC:9251"
                     /db_xref="MIM:613111"
                     /translation="MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQP
                     SFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQ
                     PDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRL
                     FPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFA
                     YYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPC
                     AGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTY
                     LNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDV
                     DMACNFMGDEWFVDSLNQKMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHM
                     VPTDKPLAAFTMFSRFLNKQPY"
     sig_peptide     46..129
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     130..1485
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /product="Lysosomal protective protein. /id=PRO_0000004274"
                     /note="propagated from UniProtKB/Swiss-Prot (P10619.2)"
     mat_peptide     130..1023
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /product="Lysosomal protective protein 32 kDa chain.
                     /id=PRO_0000004275"
                     /note="propagated from UniProtKB/Swiss-Prot (P10619.2)"
     misc_feature    478..480
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16263699,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P10619.2); glycosylation site"
     mat_peptide     1024..1485
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /product="Lysosomal protective protein 20 kDa chain.
                     /id=PRO_0000004276"
                     /note="propagated from UniProtKB/Swiss-Prot (P10619.2)"
     misc_feature    1042..1044
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P10619.2); glycosylation site"
     regulatory      1836..1841
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /note="hexamer: ATTAAA"
     polyA_site      1858
                     /gene="CTSA"
                     /gene_synonym="GLB2; GSL; NGBE; PPCA; PPGB"
                     /note="major polyA site"
ORIGIN
        1 agtccccggg cgcctcctgg agagcaagga cgcgggggag cagagatgat ccgagccgcg
       61 ccgccgccgc tgttcctgct gctgctgctg ctgctgctgc tagtgtcctg ggcgtcccga
      121 ggcgaggcag cccccgacca ggacgagatc cagcgcctcc ccgggctggc caagcagccg
      181 tctttccgcc agtactccgg ctacctcaaa ggctccggct ccaagcacct ccactactgg
      241 tttgtggagt cccagaagga tcccgagaac agccctgtgg tgctttggct caatgggggt
      301 cccggctgca gctcactaga tgggctcctc acagagcatg gccccttcct ggtccagcca
      361 gatggtgtca ccctggagta caacccctat tcttggaatc tgattgccaa tgtgttatac
      421 ctggagtccc cagctggggt gggcttctcc tactccgatg acaagtttta tgcaactaat
      481 gacactgagg tcgcccagag caattttgag gcccttcaag atttcttccg cctctttccg
      541 gagtacaaga acaacaaact tttcctgacc ggggagagct atgctggcat ctacatcccc
      601 accctggccg tgctggtcat gcaggatccc agcatgaacc ttcaggggct ggctgtgggc
      661 aatggactct cctcctatga gcagaatgac aactccctgg tctactttgc ctactaccat
      721 ggccttctgg ggaacaggct ttggtcttct ctccagaccc actgctgctc tcaaaacaag
      781 tgtaacttct atgacaacaa agacctggaa tgcgtgacca atcttcagga agtggcccgc
      841 atcgtgggca actctggcct caacatctac aatctctatg ccccgtgtgc tggaggggtg
      901 cccagccatt ttaggtatga gaaggacact gttgtggtcc aggatttggg caacatcttc
      961 actcgcctgc cactcaagcg gatgtggcat caggcactgc tgcgctcagg ggataaagtg
     1021 cgcatggacc ccccctgcac caacacaaca gctgcttcca cctacctcaa caacccgtac
     1081 gtgcggaagg ccctcaacat cccggagcag ctgccacaat gggacatgtg caactttctg
     1141 gtaaacttac agtaccgccg tctctaccga agcatgaact cccagtatct gaagctgctt
     1201 agctcacaga aataccagat cctattatat aatggagatg tagacatggc ctgcaatttc
     1261 atgggggatg agtggtttgt ggattccctc aaccagaaga tggaggtgca gcgccggccc
     1321 tggttagtga agtacgggga cagcggggag cagattgccg gcttcgtgaa ggagttctcc
     1381 cacatcgcct ttctcacgat caagggcgcc ggccacatgg ttcccaccga caagcccctc
     1441 gctgccttca ccatgttctc ccgcttcctg aacaagcagc catactgatg accacagcaa
     1501 ccagctccac ggcctgatgc agcccctccc agcctctccc gctaggagag tcctcttcta
     1561 agcaaagtgc ccctgcaggc cgggttctgc cgccaggact gcccccttcc cagagccctg
     1621 tacatcccag actgggccca gggtctccca tagacagcct gggggcaagt tagcacttta
     1681 ttcccgcagc agttcctgaa tggggtggcc tggccccttc tctgcttaaa gaatgccctt
     1741 tatgatgcac tgattccatc ccaggaaccc aacagagctc aggacagccc acagggaggt
     1801 ggtggacgga ctgtaattga tagattgatt atggaattaa attgggtaca gcttcaaa
//
LOCUS       NM_000310               2284 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens palmitoyl-protein thioesterase 1 (PPT1), transcript
            variant 1, mRNA.
ACCESSION   NM_000310
VERSION     NM_000310.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2284)
  AUTHORS   Tian W, Li C, Ren J, Li P, Zhao J, Li S and Dong D.
  TITLE     Identification of PPT1 as a lysosomal core gene with prognostic
            value in hepatocellular carcinoma
  JOURNAL   Biosci Rep 43 (5) (2023)
   PUBMED   37103469
  REMARK    GeneRIF: Identification of PPT1 as a lysosomal core gene with
            prognostic value in hepatocellular carcinoma.
REFERENCE   2  (bases 1 to 2284)
  AUTHORS   Thirumal Kumar D, Shaikh N, Udhaya Kumar S and George Priya Doss C.
  TITLE     Computational and structural investigation of Palmitoyl-Protein
            Thioesterase 1 (PPT1) protein causing Neuronal Ceroid Lipofuscinoses
            (NCL)
  JOURNAL   Adv Protein Chem Struct Biol 132, 89-109 (2022)
   PUBMED   36088080
  REMARK    GeneRIF: Computational and structural investigation of
            Palmitoyl-Protein Thioesterase 1 (PPT1) protein causing Neuronal
            Ceroid Lipofuscinoses (NCL).
REFERENCE   3  (bases 1 to 2284)
  AUTHORS   Balouch B, Nagorsky H, Pham T, LaGraff JT and Chu-LaGraff Q.
  TITLE     Human INCL fibroblasts display abnormal mitochondrial and lysosomal
            networks and heightened susceptibility to ROS-induced cell death
  JOURNAL   PLoS One 16 (2), e0239689 (2021)
   PUBMED   33561134
  REMARK    GeneRIF: Human INCL fibroblasts display abnormal mitochondrial and
            lysosomal networks and heightened susceptibility to ROS-induced cell
            death. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2284)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 2284)
  AUTHORS   Crews CM, Lane WS and Schreiber SL.
  TITLE     Didemnin binds to the protein palmitoyl thioesterase responsible for
            infantile neuronal ceroid lipofuscinosis
  JOURNAL   Proc Natl Acad Sci U S A 93 (9), 4316-4319 (1996)
   PUBMED   8633062
REFERENCE   6  (bases 1 to 2284)
  AUTHORS   Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P,
            Hofmann SL and Peltonen L.
  TITLE     Mutations in the palmitoyl protein thioesterase gene causing
            infantile neuronal ceroid lipofuscinosis
  JOURNAL   Nature 376 (6541), 584-587 (1995)
   PUBMED   7637805
REFERENCE   7  (bases 1 to 2284)
  AUTHORS   Camp LA, Verkruyse LA, Afendis SJ, Slaughter CA and Hofmann SL.
  TITLE     Molecular cloning and expression of palmitoyl-protein thioesterase
  JOURNAL   J Biol Chem 269 (37), 23212-23219 (1994)
   PUBMED   7916016
REFERENCE   8  (bases 1 to 2284)
  AUTHORS   Hellsten E, Vesa J, Speer MC, Makela TP, Jarvela I, Alitalo K, Ott J
            and Peltonen L.
  TITLE     Refined assignment of the infantile neuronal ceroid lipofuscinosis
            (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium
            in multipoint analysis
  JOURNAL   Genomics 16 (3), 720-725 (1993)
   PUBMED   8325646
REFERENCE   9  (bases 1 to 2284)
  AUTHORS   Mole,S.E. and Williams,R.E.
  TITLE     Neuronal Ceroid-Lipofuscinoses - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301601
REFERENCE   10  (bases 1 to 2284)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC008426.1, U44772.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142670,
            SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000642050.2/ ENSP00000493153.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA504318.1, BC008426.1 and
            AL512599.33.
            On Nov 21, 2019 this sequence version replaced NM_000310.3.
            Summary: The protein encoded by this gene is a small glycoprotein
            involved in the catabolism of lipid-modified proteins during
            lysosomal degradation. The encoded enzyme removes thioester-linked
            fatty acyl groups such as palmitate from cysteine residues. Defects
            in this gene are a cause of infantile neuronal ceroid
            lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis
            4 (CLN4). Two transcript variants encoding different isoforms have
            been found for this gene.[provided by RefSeq, Dec 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2284
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..2284
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /note="palmitoyl-protein thioesterase 1"
                     /db_xref="GeneID:5538"
                     /db_xref="HGNC:HGNC:9325"
                     /db_xref="MIM:600722"
     CDS             15..935
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /EC_number="3.1.2.22"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; ceroid-palmitoyl-palmitoyl-protein thioesterase 1;
                     palmitoyl-protein hydrolase 1"
                     /codon_start=1
                     /product="palmitoyl-protein thioesterase 1 isoform 1
                     precursor"
                     /protein_id="NP_000301.1"
                     /db_xref="CCDS:CCDS447.1"
                     /db_xref="GeneID:5538"
                     /db_xref="HGNC:HGNC:9325"
                     /db_xref="MIM:600722"
                     /translation="MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGDSC
                     CNPLSMGAIKKMVEKKIPGIYVLSLEIGKTLMEDVENSFFLNVNSQVTTVCQALAKDPK
                     LQQGYNAMGFSQGGQFLRAVAQRCPSPPMINLISVGGQHQGVFGLPRCPGESSHICDFI
                     RKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSIFLADINQERGINESYKKNLMAL
                     KKFVMVKFLNDSIVDPVDSEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQLV
                     FLATEGDHLQLSEEWFYAHIIPFLG"
     sig_peptide     15..74
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      2266..2271
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /note="hexamer: AATAAA"
     polyA_site      2284
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /note="major polyA site"
ORIGIN
        1 gtgacacagc gaagatggcg tcgcccggct gcctgtggct cttggctgtg gctctcctgc
       61 catggacctg cgcttctcgg gcgctgcagc atctggaccc gccggcgccg ctgccgttgg
      121 tgatctggca tgggatggga gacagctgtt gcaatccctt aagcatgggt gctattaaaa
      181 aaatggtgga gaagaaaata cctggaattt acgtcttatc tttagagatt gggaagaccc
      241 tgatggagga cgtggagaac agcttcttct tgaatgtcaa ttcccaagta acaacagtgt
      301 gtcaggcact tgctaaggat cctaaattgc agcaaggcta caatgctatg ggattctccc
      361 agggaggcca atttctgagg gcagtggctc agagatgccc ttcacctccc atgatcaatc
      421 tgatctcggt tgggggacaa catcaaggtg tttttggact ccctcgatgc ccaggagaga
      481 gctctcacat ctgtgacttc atccgaaaaa cactgaatgc tggggcgtac tccaaagttg
      541 ttcaggaacg cctcgtgcaa gccgaatact ggcatgaccc cataaaggag gatgtgtatc
      601 gcaaccacag catcttcttg gcagatataa atcaggagcg gggtatcaat gagtcctaca
      661 agaaaaacct gatggccctg aagaagtttg tgatggtgaa attcctcaat gattccattg
      721 tggaccctgt agattcggag tggtttggat tttacagaag tggccaagcc aaggaaacca
      781 ttcccttaca ggagacctcc ctgtacacac aggaccgcct ggggctaaag gaaatggaca
      841 atgcaggaca gctagtgttt ctggctacag aaggggacca tcttcagttg tctgaagaat
      901 ggttttatgc ccacatcata ccattccttg gatgaaaccc gtatagttca caatagagct
      961 cagggagccc ctaactcttc caaaccacat gggagacagt ttccttcatg cccaagcctg
     1021 agctcagatc cagcttgcaa ctaatccttc tatcatctaa catgccctac ttggaaagat
     1081 ctaagatctg aatcttatcc tttgccatct tctgttacca tatggtgttg aatgcaagtt
     1141 taattaccat ggagattgtt ttacaaactt ttgatgtggt caagttcagt tttagaaaag
     1201 ggagtctgtt ccagatcagt gccagaactg tgcccaggcc caaaggagac aactaactaa
     1261 agtagtgaga tagattctaa gggcaaacat ttttccaagt cttgccatat ttcaagcaaa
     1321 gaggtgccca ggcctgaggt actcacataa atgctttgtt ttgctggtga tttaaccagt
     1381 gcttggaaaa atcttgcttg gctatttctg catcatttct taaggctgcc ttcctctctc
     1441 agtacgttgc cctctgtgct atcatcttat catcaattat tagacaaatc ccactggcct
     1501 acagtcttgc ttctgcagca cccactttgt ctcctcaggt agtgatgaat tagttgctgt
     1561 cacaaaagga gggaagtagc acccaaatta agttgcttaa gagaggaaat gtacatcttg
     1621 tataacttag ggagcgaaga aaatgtaggc gcgaaagtga aaagtgaggc agctagttct
     1681 tcctattcca ttctcgacca acctgccctt tcttaatatg actagtggtc ttgatgctag
     1741 agtcaactta ctctgttgct ggctttagca gagaatagga ggaaccatat gaaaaagatc
     1801 aggctttctg acttccatcc ccaaaacaca tttaccagca tactccaaac tgtttctgat
     1861 gtgttccatg agaaaaggat tgtttgctca aaaagcttgg aaaatactac acactccctt
     1921 tctccttctg gagatcaacc cacattagag tgtctaagga ctcctgagaa ttcctgttac
     1981 agtaaacaaa actaacgtaa tctaccattt cctacactat ttgagcatgg aaatcatagt
     2041 ccccactctg tgaaaactta acgctttttg gaagacattt ctgtagcatg tcagtttgga
     2101 gaaatgatga gctacgcctt gatgaaagaa ccgtgttggt gctgctaagt ttagccatta
     2161 tggtttttcc tttctctctc ttaagcctta ttcttcaact aaaagatgag gattaagagc
     2221 aagaagttgg gggggatgtg aaaataattt tatgaggttg tctaaaataa agagtagttt
     2281 ctta
//
LOCUS       NM_000311               2435 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens prion protein (PRNP), transcript variant 1, mRNA.
ACCESSION   NM_000311
VERSION     NM_000311.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2435)
  AUTHORS   Lin C, He J, Tong X and Song L.
  TITLE     Copper homeostasis-associated gene PRNP regulates ferroptosis and
            immune infiltration in breast cancer
  JOURNAL   PLoS One 18 (8), e0288091 (2023)
   PUBMED   37535656
  REMARK    GeneRIF: Copper homeostasis-associated gene PRNP regulates
            ferroptosis and immune infiltration in breast cancer. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 2435)
  AUTHORS   Bayazid R, Orru' C, Aslam R, Cohen Y, Silva-Rohwer A, Lee SK,
            Occhipinti R, Kong Q, Shetty S, Cohen ML, Caughey B, Schonberger LB,
            Appleby BS and Cali I.
  TITLE     A novel subtype of sporadic Creutzfeldt-Jakob disease with PRNP
            codon 129MM genotype and PrP plaques
  JOURNAL   Acta Neuropathol 146 (1), 121-143 (2023)
   PUBMED   37156880
  REMARK    GeneRIF: A novel subtype of sporadic Creutzfeldt-Jakob disease with
            PRNP codon 129MM genotype and PrP plaques. Erratum:[Acta
            Neuropathol. 2023 May 30;:. PMID: 37253983]
REFERENCE   3  (bases 1 to 2435)
  AUTHORS   Kawaguchi N, Motoda A, Terada T, Usui N, Terada K, Matsubara T, Sato
            K, Kitamoto T, Murayama S and Obi T.
  TITLE     Bilateral tonic-clonic seizure and focal cortical hyperexcitability
            in familial Creutzfeldt-Jakob disease with E200K mutation of the
            prion protein
  JOURNAL   Epileptic Disord 25 (3), 397-405 (2023)
   PUBMED   36939723
  REMARK    GeneRIF: Bilateral tonic-clonic seizure and focal cortical
            hyperexcitability in familial Creutzfeldt-Jakob disease with E200K
            mutation of the prion protein.
REFERENCE   4  (bases 1 to 2435)
  AUTHORS   Vanderperre B, Staskevicius AB, Tremblay G, McCoy M, O'Neill MA,
            Cashman NR and Roucou X.
  TITLE     An overlapping reading frame in the PRNP gene encodes a novel
            polypeptide distinct from the prion protein
  JOURNAL   FASEB J 25 (7), 2373-2386 (2011)
   PUBMED   21478263
  REMARK    GeneRIF: Results demonstrate an unexpected function for PRNP, which,
            in addition to plasma membrane-anchored PrP, also encodes a second
            polypeptide termed AltPrP.
REFERENCE   5  (bases 1 to 2435)
  AUTHORS   Li B, Qing L, Yan J and Kong Q.
  TITLE     Instability of the octarepeat region of the human prion protein gene
  JOURNAL   PLoS One 6 (10), e26635 (2011)
   PUBMED   22028931
  REMARK    GeneRIF: instability of the octarepeat region of the human prion
            protein gene
REFERENCE   6  (bases 1 to 2435)
  AUTHORS   Zerr,I. and Schmitz,M.
  TITLE     Genetic Prion Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301407
REFERENCE   7  (bases 1 to 2435)
  AUTHORS   Muller WE, Pfeifer K, Forrest J, Rytik PG, Eremin VF, Popov SA and
            Schroder HC.
  TITLE     Accumulation of transcripts coding for prion protein in human
            astrocytes during infection with human immunodeficiency virus
  JOURNAL   Biochim Biophys Acta 1139 (1-2), 32-40 (1992)
   PUBMED   1351748
REFERENCE   8  (bases 1 to 2435)
  AUTHORS   Medori R, Montagna P, Tritschler HJ, LeBlanc A, Cortelli P, Tinuper
            P, Lugaresi E and Gambetti P.
  TITLE     Fatal familial insomnia: a second kindred with mutation of prion
            protein gene at codon 178
  JOURNAL   Neurology 42 (3 Pt 1), 669-670 (1992)
   PUBMED   1347910
REFERENCE   9  (bases 1 to 2435)
  AUTHORS   Medori R, Tritschler HJ, LeBlanc A, Villare F, Manetto V, Chen HY,
            Xue R, Leal S, Montagna P, Cortelli P et al.
  TITLE     Fatal familial insomnia, a prion disease with a mutation at codon
            178 of the prion protein gene
  JOURNAL   N Engl J Med 326 (7), 444-449 (1992)
   PUBMED   1346338
REFERENCE   10  (bases 1 to 2435)
  AUTHORS   Goldfarb LG, Brown P, McCombie WR, Goldgaber D, Swergold GD, Wills
            PR, Cervenakova L, Baron H, Gibbs CJ Jr and Gajdusek DC.
  TITLE     Transmissible familial Creutzfeldt-Jakob disease associated with
            five, seven, and eight extra octapeptide coding repeats in the PRNP
            gene
  JOURNAL   Proc Natl Acad Sci U S A 88 (23), 10926-10930 (1991)
   PUBMED   1683708
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.111164.1,
            SRR1660809.259593.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379440.9/ ENSP00000368752.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC325819.1, M13899.1 and
            AI131269.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000311.4.
            Summary: The protein encoded by this gene is a membrane
            glycosylphosphatidylinositol-anchored glycoprotein that tends to
            aggregate into rod-like structures. The encoded protein contains a
            highly unstable region of five tandem octapeptide repeats. This
            gene is found on chromosome 20, approximately 20 kbp upstream of a
            gene which encodes a biochemically and structurally similar protein
            to the one encoded by this gene. Mutations in the repeat region as
            well as elsewhere in this gene have been associated with
            Creutzfeldt-Jakob disease, fatal familial insomnia,
            Gerstmann-Straussler disease, Huntington disease-like 1, and kuru.
            An overlapping open reading frame has been found for this gene that
            encodes a smaller, structurally unrelated protein, AltPrp.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Nov 2014].
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1-5 can all encode the same isoform (Prp).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2435
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..2435
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /note="prion protein"
                     /db_xref="GeneID:5621"
                     /db_xref="HGNC:HGNC:9449"
                     /db_xref="MIM:176640"
     CDS             68..829
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /note="preproprotein Prp precursor is encoded by transcript
                     variant 1; prion-related protein; alternative prion
                     protein; major prion protein; CD230 antigen"
                     /codon_start=1
                     /product="major prion protein preproprotein Prp precursor"
                     /protein_id="NP_000302.1"
                     /db_xref="CCDS:CCDS13080.1"
                     /db_xref="GeneID:5621"
                     /db_xref="HGNC:HGNC:9449"
                     /db_xref="MIM:176640"
                     /translation="MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPG
                     GNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQGGGTHSQWNKPSK
                     PKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQVYY
                     RPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERES
                     QAYYQRGSSMVLFSSPPVILLISFLIFLIVG"
     sig_peptide     68..133
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     134..757
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /product="Major prion protein. /id=PRO_0000025675"
                     /note="propagated from UniProtKB/Swiss-Prot (P04156.1)"
     misc_feature    134..757
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /note="propagated from UniProtKB/Swiss-Prot (P04156.1);
                     Region: Interaction with GRB2, ERI3 and SYN1.
                     /evidence=ECO:0000250|UniProtKB:P04925"
     misc_feature    134..181
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /note="propagated from UniProtKB/Swiss-Prot (P04156.1);
                     Region: Interaction with ADGRG6.
                     /evidence=ECO:0000250|UniProtKB:P04925"
     misc_feature    143..391
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /note="propagated from UniProtKB/Swiss-Prot (P04156.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    218..340
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /note="propagated from UniProtKB/Swiss-Prot (P04156.1);
                     Region: 5 X 8 AA tandem repeats of P-H-G-G-G-W-G-Q"
     misc_feature    218..244
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /experiment="COORDINATES:manual assertion
                     [ECO:0000218][PMID:1683708]"
                     /note="peptide; nonapeptide PQGGGGWGQ encoded by the R1
                     nucleotide motif"
     misc_feature    245..268
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /experiment="COORDINATES:manual assertion
                     [ECO:0000218][PMID:1683708]"
                     /note="peptide; octapeptide PHGGGWGQ encoded by the R2
                     nucleotide motif"
     misc_feature    269..292
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /experiment="COORDINATES:manual assertion
                     [ECO:0000218][PMID:1683708]"
                     /note="peptide; octapeptide PHGGGWGQ encoded by the R2
                     nucleotide motif"
     misc_feature    293..316
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /experiment="COORDINATES:manual assertion
                     [ECO:0000218][PMID:1683708]"
                     /note="peptide; octapeptide PHGGGWGQ encoded by the R3
                     nucleotide motif"
     misc_feature    317..340
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /experiment="COORDINATES:manual assertion
                     [ECO:0000218][PMID:1683708]"
                     /note="peptide; octapeptide PHGGGWGQ encoded by the R4
                     nucleotide motif"
     misc_feature    608..610
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12214108; propagated from
                     UniProtKB/Swiss-Prot (P04156.1); glycosylation site"
     misc_feature    656..658
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P04156.1); glycosylation site"
     misc_feature    218..340
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /experiment="EXISTENCE:polymerase chain reaction evidence
                     [ECO:0000082][PMID:1683708, PMID:22028931]"
                     /note="sequence feature; octapeptide repeat region that is
                     prone to alterations in copy number and sequence, some of
                     which can result in Creutzfeldt-Jakob disease"
     regulatory      2411..2416
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /note="hexamer: ATTAAA"
     polyA_site      2435
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30;
                     PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /note="major polyA site"
ORIGIN
        1 gccagtcgct gacagccgcg gcgccgcgag cttctcctct cctcacgacc gaggcagagc
       61 agtcattatg gcgaaccttg gctgctggat gctggttctc tttgtggcca catggagtga
      121 cctgggcctc tgcaagaagc gcccgaagcc tggaggatgg aacactgggg gcagccgata
      181 cccggggcag ggcagccctg gaggcaaccg ctacccacct cagggcggtg gtggctgggg
      241 gcagcctcat ggtggtggct gggggcagcc tcatggtggt ggctgggggc agccccatgg
      301 tggtggctgg ggacagcctc atggtggtgg ctggggtcaa ggaggtggca cccacagtca
      361 gtggaacaag ccgagtaagc caaaaaccaa catgaagcac atggctggtg ctgcagcagc
      421 tggggcagtg gtggggggcc ttggcggcta catgctggga agtgccatga gcaggcccat
      481 catacatttc ggcagtgact atgaggaccg ttactatcgt gaaaacatgc accgttaccc
      541 caaccaagtg tactacaggc ccatggatga gtacagcaac cagaacaact ttgtgcacga
      601 ctgcgtcaat atcacaatca agcagcacac ggtcaccaca accaccaagg gggagaactt
      661 caccgagacc gacgttaaga tgatggagcg cgtggttgag cagatgtgta tcacccagta
      721 cgagagggaa tctcaggcct attaccagag aggatcgagc atggtcctct tctcctctcc
      781 acctgtgatc ctcctgatct ctttcctcat cttcctgata gtgggatgag gaaggtcttc
      841 ctgttttcac catctttcta atctttttcc agcttgaggg aggcggtatc cacctgcagc
      901 ccttttagtg gtggtgtctc actctttctt ctctctttgt cccggatagg ctaatcaata
      961 cccttggcac tgatgggcac tggaaaacat agagtagacc tgagatgctg gtcaagcccc
     1021 ctttgattga gttcatcatg agccgttgct aatgccaggc cagtaaaagt ataacagcaa
     1081 ataaccattg gttaatctgg acttattttt ggacttagtg caacaggttg aggctaaaac
     1141 aaatctcaga acagtctgaa atacctttgc ctggatacct ctggctcctt cagcagctag
     1201 agctcagtat actaatgccc tatcttagta gagatttcat agctatttag agatattttc
     1261 cattttaaga aaacccgaca acatttctgc caggtttgtt aggaggccac atgatactta
     1321 ttcaaaaaaa tcctagagat tcttagctct tgggatgcag gctcagcccg ctggagcatg
     1381 agctctgtgt gtaccgagaa ctggggtgat gttttacttt tcacagtatg ggctacacag
     1441 cagctgttca acaagagtaa atattgtcac aacactgaac ctctggctag aggacatatt
     1501 cacagtgaac ataactgtaa catatatgaa aggcttctgg gacttgaaat caaatgtttg
     1561 ggaatggtgc ccttggaggc aacctcccat tttagatgtt taaaggaccc tatatgtggc
     1621 attcctttct ttaaactata ggtaattaag gcagctgaaa agtaaattgc cttctagaca
     1681 ctgaaggcaa atctcctttg tccatttacc tggaaaccag aatgattttg acatacagga
     1741 gagctgcagt tgtgaaagca ccatcatcat agaggatgat gtaattaaaa aatggtcagt
     1801 gtgcaaagaa aagaactgct tgcatttctt tatttctgtc tcataattgt caaaaaccag
     1861 aattaggtca agttcatagt ttctgtaatt ggcttttgaa tcaaagaata gggagacaat
     1921 ctaaaaaata tcttaggttg gagatgacag aaatatgatt gatttgaagt ggaaaaagaa
     1981 attctgttaa tgttaattaa agtaaaatta ttccctgaat tgtttgatat tgtcacctag
     2041 cagatatgta ttacttttct gcaatgttat tattggcttg cactttgtga gtattctatg
     2101 taaaaatata tatgtatata aaatatatat tgcataggac agacttagga gttttgttta
     2161 gagcagttaa catctgaagt gtctaatgca ttaacttttg taaggtactg aatacttaat
     2221 atgtgggaaa cccttttgcg tggtccttag gcttacaatg tgcactgaat cgtttcatgt
     2281 aagaatccaa agtggacacc attaacaggt ctttgaaata tgcatgtact ttatattttc
     2341 tatatttgta actttgcatg ttcttgtttt gttatataaa aaaattgtaa atgtttaata
     2401 tctgactgaa attaaacgag cgaagatgag cacca
//
LOCUS       NM_000312               1769 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens protein C, inactivator of coagulation factors Va and
            VIIIa (PROC), transcript variant 10, mRNA.
ACCESSION   NM_000312
VERSION     NM_000312.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1769)
  AUTHORS   Ke B, Shen W, Liao Y, Hu J, Tu W and Fang X.
  TITLE     APC ameliorates idiopathic membranous nephropathy by affecting
            podocyte apoptosis through the ERK1/2/YB-1/PLA2R1 axis
  JOURNAL   Mol Cell Biochem 478 (9), 1999-2011 (2023)
   PUBMED   36588134
  REMARK    GeneRIF: APC ameliorates idiopathic membranous nephropathy by
            affecting podocyte apoptosis through the ERK1/2/YB-1/PLA2R1 axis.
REFERENCE   2  (bases 1 to 1769)
  AUTHORS   Mohammed NS.
  TITLE     Protein C and S levels in patients with Thalassemia intermedia
  JOURNAL   J Med Life 15 (11), 1415-1418 (2022)
   PUBMED   36567848
  REMARK    GeneRIF: Protein C and S levels in patients with Thalassemia
            intermedia.
REFERENCE   3  (bases 1 to 1769)
  AUTHORS   Witt I, Beck S, Seydewitz HH, Tasangil C and Schenck W.
  TITLE     A novel homozygous missense mutation (Val 325-->Ala) in the protein
            C gene causing neonatal purpura fulminans
  JOURNAL   Blood Coagul Fibrinolysis 5 (4), 651-653 (1994)
   PUBMED   7841324
REFERENCE   4  (bases 1 to 1769)
  AUTHORS   Grundy CB, Chisholm M, Kakkar VV and Cooper DN.
  TITLE     A novel homozygous missense mutation in the protein C (PROC) gene
            causing recurrent venous thrombosis
  JOURNAL   Hum Genet 89 (6), 683-684 (1992)
   PUBMED   1511988
REFERENCE   5  (bases 1 to 1769)
  AUTHORS   Patracchini P, Aiello V, Palazzi P, Calzolari E and Bernardi F.
  TITLE     Sublocalization of the human protein C gene on chromosome 2q13-q14
  JOURNAL   Hum Genet 81 (2), 191-192 (1989)
   PUBMED   2912888
REFERENCE   6  (bases 1 to 1769)
  AUTHORS   Romeo,G., Hassan,H.J., Staempfli,S., Roncuzzi,L., Cianetti,L.,
            Leonardi,A., Vicente,V., Mannucci,P.M., Bertina,R., Peschle,C. et
            al.
  TITLE     Hereditary thrombophilia: identification of nonsense and missense
            mutations in the protein C gene
  JOURNAL   Proc Natl Acad Sci U S A 84 (9), 2829-2832 (1987)
   PUBMED   2437584
REFERENCE   7  (bases 1 to 1769)
  AUTHORS   Beckmann,R.J., Schmidt,R.J., Santerre,R.F., Plutzky,J.,
            Crabtree,G.R. and Long,G.L.
  TITLE     The structure and evolution of a 461 amino acid human protein C
            precursor and its messenger RNA, based upon the DNA sequence of
            cloned human liver cDNAs
  JOURNAL   Nucleic Acids Res 13 (14), 5233-5247 (1985)
   PUBMED   2991859
REFERENCE   8  (bases 1 to 1769)
  AUTHORS   Foster,D.C., Yoshitake,S. and Davie,E.W.
  TITLE     The nucleotide sequence of the gene for human protein C
  JOURNAL   Proc Natl Acad Sci U S A 82 (14), 4673-4677 (1985)
   PUBMED   2991887
REFERENCE   9  (bases 1 to 1769)
  AUTHORS   Kisiel,W.
  TITLE     Human plasma protein C: isolation, characterization, and mechanism
            of activation by alpha-thrombin
  JOURNAL   J Clin Invest 64 (3), 761-769 (1979)
   PUBMED   468991
REFERENCE   10  (bases 1 to 1769)
  AUTHORS   Esmon,C.T., Stenflo,J. and Suttie,J.W.
  TITLE     A new vitamin K-dependent protein. A phospholipid-binding zymogen of
            a serine esterase
  JOURNAL   J Biol Chem 251 (10), 3052-3056 (1976)
   PUBMED   1270437
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC034377.1, X02750.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2145122 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000234071.8/ ENSP00000234071.4
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA642156.1 and BC034377.1.
            On Dec 4, 2019 this sequence version replaced NM_000312.3.
            Summary: This gene encodes a vitamin K-dependent plasma
            glycoprotein. The encoded protein is cleaved to its activated form
            by the thrombin-thrombomodulin complex. This activated form
            contains a serine protease domain and functions in degradation of
            the activated forms of coagulation factors V and VIII. Mutations in
            this gene have been associated with thrombophilia due to protein C
            deficiency, neonatal purpura fulminans, and recurrent venous
            thrombosis.[provided by RefSeq, Dec 2009].
            Transcript Variant: This variant (10), as well as variants 11 and
            12, encodes isoform 10.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1769
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.3"
     gene            1..1769
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="protein C, inactivator of coagulation factors Va and
                     VIIIa"
                     /db_xref="GeneID:5624"
                     /db_xref="HGNC:HGNC:9451"
                     /db_xref="MIM:612283"
     CDS             88..1473
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /EC_number="3.4.21.69"
                     /note="isoform 10 preproprotein is encoded by transcript
                     variant 10; vitamin K-dependent protein C; autoprothrombin
                     IIA; anticoagulant protein C; blood coagulation factor XIV;
                     prepro-protein C; type I protein C; Protein C-Nagoya;
                     activated protein C"
                     /codon_start=1
                     /product="vitamin K-dependent protein C isoform 10
                     preproprotein"
                     /protein_id="NP_000303.1"
                     /db_xref="CCDS:CCDS2145.1"
                     /db_xref="GeneID:5624"
                     /db_xref="HGNC:HGNC:9451"
                     /db_xref="MIM:612283"
                     /translation="MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANS
                     FLEELRHSSLERECIEEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEHPCASL
                     CCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRCSCA
                     PGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGD
                     SPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLD
                     IKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVT
                     GWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACE
                     GDSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKS
                     WAP"
     sig_peptide     88..141
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    142..144
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:22171320; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); glycosylation site"
     mat_peptide     214..1470
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /product="Vitamin K-dependent protein C.
                     /id=PRO_0000028108"
                     /note="propagated from UniProtKB/Swiss-Prot (P04070.1)"
     mat_peptide     214..678
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /product="Vitamin K-dependent protein C light chain.
                     /id=PRO_0000028109"
                     /note="propagated from UniProtKB/Swiss-Prot (P04070.1)"
     misc_feature    229..231
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2991887; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    232..234
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2991887; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    253..255
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2991887; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    259..261
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2991887; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    268..270
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2991887; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    271..273
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2991887; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    286..288
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2991887; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    289..291
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2991887; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    298..300
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2991887; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    424..426
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="(3R)-3-hydroxyaspartate.
                     /evidence=ECO:0000269|PubMed:2991887; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); hydroxylation site"
     misc_feature    502..504
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); glycosylation site"
     mat_peptide     685..1470
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /product="Vitamin K-dependent protein C heavy chain.
                     /id=PRO_0000028110"
                     /note="propagated from UniProtKB/Swiss-Prot (P04070.1)"
     mat_peptide     685..720
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /product="Activation peptide. /id=PRO_0000028111"
                     /note="propagated from UniProtKB/Swiss-Prot (P04070.1)"
     misc_feature    718..723
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="Cleavage, by thrombin; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); cleavage site"
     misc_feature    955..957
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:2991887; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); glycosylation site"
     misc_feature    1126..1128
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); phosphorylation site"
     misc_feature    1150..1152
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:2991887; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); glycosylation site"
     misc_feature    1198..1200
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="N-linked (GlcNAc...) asparagine, atypical, partial.
                     /evidence=ECO:0000269|PubMed:1694179,
                     ECO:0000269|PubMed:2991887; propagated from
                     UniProtKB/Swiss-Prot (P04070.1); glycosylation site"
     regulatory      1520..1525
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="hexamer: ATTAAA"
     polyA_site      1542
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="major polyA site"
     regulatory      1749..1754
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="hexamer: AATAAA"
     polyA_site      1769
                     /gene="PROC"
                     /gene_synonym="APC; PC; PROC1; THPH3; THPH4"
                     /note="major polyA site"
ORIGIN
        1 aactcgaact ccaggctgtc atggcggcag gacggcgaac ttgcagtatc tccacgaccc
       61 gcccctacag gtgccagtgc ctccagaatg tggcagctca caagcctcct gctgttcgtg
      121 gccacctggg gaatttccgg cacaccagct cctcttgact cagtgttctc cagcagcgag
      181 cgtgcccacc aggtgctgcg gatccgcaaa cgtgccaact ccttcctgga ggagctccgt
      241 cacagcagcc tggagcggga gtgcatagag gagatctgtg acttcgagga ggccaaggaa
      301 attttccaaa atgtggatga cacactggcc ttctggtcca agcacgtcga cggtgaccag
      361 tgcttggtct tgcccttgga gcacccgtgc gccagcctgt gctgcgggca cggcacgtgc
      421 atcgacggca tcggcagctt cagctgcgac tgccgcagcg gctgggaggg ccgcttctgc
      481 cagcgcgagg tgagcttcct caattgctcg ctggacaacg gcggctgcac gcattactgc
      541 ctagaggagg tgggctggcg gcgctgtagc tgtgcgcctg gctacaagct gggggacgac
      601 ctcctgcagt gtcaccccgc agtgaagttc ccttgtggga ggccctggaa gcggatggag
      661 aagaagcgca gtcacctgaa acgagacaca gaagaccaag aagaccaagt agatccgcgg
      721 ctcattgatg ggaagatgac caggcgggga gacagcccct ggcaggtggt cctgctggac
      781 tcaaagaaga agctggcctg cggggcagtg ctcatccacc cctcctgggt gctgacagcg
      841 gcccactgca tggatgagtc caagaagctc cttgtcaggc ttggagagta tgacctgcgg
      901 cgctgggaga agtgggagct ggacctggac atcaaggagg tcttcgtcca ccccaactac
      961 agcaagagca ccaccgacaa tgacatcgca ctgctgcacc tggcccagcc cgccaccctc
     1021 tcgcagacca tagtgcccat ctgcctcccg gacagcggcc ttgcagagcg cgagctcaat
     1081 caggccggcc aggagaccct cgtgacgggc tggggctacc acagcagccg agagaaggag
     1141 gccaagagaa accgcacctt cgtcctcaac ttcatcaaga ttcccgtggt cccgcacaat
     1201 gagtgcagcg aggtcatgag caacatggtg tctgagaaca tgctgtgtgc gggcatcctc
     1261 ggggaccggc aggatgcctg cgagggcgac agtggggggc ccatggtcgc ctccttccac
     1321 ggcacctggt tcctggtggg cctggtgagc tggggtgagg gctgtgggct ccttcacaac
     1381 tacggcgttt acaccaaagt cagccgctac ctcgactgga tccatgggca catcagagac
     1441 aaggaagccc cccagaagag ctgggcacct tagcgaccct ccctgcaggg ctgggctttt
     1501 gcatggcaat ggatgggaca ttaaagggac atgtaacaag cacaccggcc tgctgttctg
     1561 tccttccatc cctcttttgg gctcttctgg agggaagtaa catttactga gcacctgttg
     1621 tatgtcacat gccttatgaa tagaatctta actcctagag caactctgtg gggtggggag
     1681 gagcagatcc aagttttgcg gggtctaaag ctgtgtgtgt tgagggggat actctgttta
     1741 tgaaaaagaa taaaaaacac aaccacgaa
//
LOCUS       NM_000313               3372 bp    mRNA    linear   PRI 22-JAN-2023
DEFINITION  Homo sapiens protein S (PROS1), transcript variant 2, mRNA.
ACCESSION   NM_000313
VERSION     NM_000313.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3372)
  AUTHORS   Mohammed NS.
  TITLE     Protein C and S levels in patients with Thalassemia intermedia
  JOURNAL   J Med Life 15 (11), 1415-1418 (2022)
   PUBMED   36567848
  REMARK    GeneRIF: Protein C and S levels in patients with Thalassemia
            intermedia.
REFERENCE   2  (bases 1 to 3372)
  AUTHORS   Wei M, Wang Y, Liu Y, Li D and He X.
  TITLE     AXL, along with PROS1, is overexpressed in papillary thyroid
            carcinoma and regulates its biological behaviour
  JOURNAL   World J Surg Oncol 20 (1), 334 (2022)
   PUBMED   36203174
  REMARK    GeneRIF: AXL, along with PROS1, is overexpressed in papillary
            thyroid carcinoma and regulates its biological behaviour.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3372)
  AUTHORS   Sim MMS and Wood JP.
  TITLE     Dysregulation of Protein S in COVID-19
  JOURNAL   Best Pract Res Clin Haematol 35 (3), 101376 (2022)
   PUBMED   36494145
  REMARK    GeneRIF: Dysregulation of Protein S in COVID-19. Review article
REFERENCE   4  (bases 1 to 3372)
  AUTHORS   Griffin JH, Gruber A and Fernandez JA.
  TITLE     Reevaluation of total, free, and bound protein S and C4b-binding
            protein levels in plasma anticoagulated with citrate or hirudin
  JOURNAL   Blood 79 (12), 3203-3211 (1992)
   PUBMED   1534488
REFERENCE   5  (bases 1 to 3372)
  AUTHORS   Maillard C, Berruyer M, Serre CM, Dechavanne M and Delmas PD.
  TITLE     Protein-S, a vitamin K-dependent protein, is a bone matrix component
            synthesized and secreted by osteoblasts
  JOURNAL   Endocrinology 130 (3), 1599-1604 (1992)
   PUBMED   1531628
REFERENCE   6  (bases 1 to 3372)
  AUTHORS   Edenbrandt CM, Lundwall A, Wydro R and Stenflo J.
  TITLE     Molecular analysis of the gene for vitamin K dependent protein S and
            its pseudogene. Cloning and partial gene organization
  JOURNAL   Biochemistry 29 (34), 7861-7868 (1990)
   PUBMED   2148112
REFERENCE   7  (bases 1 to 3372)
  AUTHORS   Ploos van Amstel HK, Reitsma PH, van der Logt CP and Bertina RM.
  TITLE     Intron-exon organization of the active human protein S gene PS alpha
            and its pseudogene PS beta: duplication and silencing during primate
            evolution
  JOURNAL   Biochemistry 29 (34), 7853-7861 (1990)
   PUBMED   2148111
REFERENCE   8  (bases 1 to 3372)
  AUTHORS   Schmidel DK, Tatro AV, Phelps LG, Tomczak JA and Long GL.
  TITLE     Organization of the human protein S genes
  JOURNAL   Biochemistry 29 (34), 7845-7852 (1990)
   PUBMED   2148110
REFERENCE   9  (bases 1 to 3372)
  AUTHORS   Lundwall,A., Dackowski,W., Cohen,E., Shaffer,M., Mahr,A.,
            Dahlback,B., Stenflo,J. and Wydro,R.
  TITLE     Isolation and sequence of the cDNA for human protein S, a regulator
            of blood coagulation
  JOURNAL   Proc Natl Acad Sci U S A 83 (18), 6716-6720 (1986)
   PUBMED   2944113
REFERENCE   10  (bases 1 to 3372)
  AUTHORS   Samuni,A., Chevion,M., Halpern,Y.S., Ilan,Y.A. and Czapski,G.
  TITLE     Radiation-induced damage in T4 bacteriophage: the effect of
            superoxide radicals and molecular oxygen
  JOURNAL   Radiat Res 75 (3), 489-496 (1978)
   PUBMED   214811
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK292994.1, Y00692.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000394236.9/ ENSP00000377783.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC015801.1, AC144562.5 and
            AI139337.1.
            On Aug 31, 2019 this sequence version replaced NM_000313.3.
            Summary: This gene encodes a vitamin K-dependent plasma protein
            that functions as a cofactor for the anticoagulant protease,
            activated protein C (APC) to inhibit blood coagulation. It is found
            in plasma in both a free, functionally active form and also in an
            inactive form complexed with C4b-binding protein. Mutations in this
            gene result in autosomal dominant hereditary thrombophilia. An
            inactive pseudogene of this locus is located at an adjacent region
            on chromosome 3. Alternative splicing results in multiple
            transcript variants encoding different isoforms that may undergo
            similar processing to generate mature protein. [provided by RefSeq,
            Oct 2015].
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region compared to variant 1. The encoded
            isoform (2) is shorter than isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3372
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.1"
     gene            1..3372
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="protein S"
                     /db_xref="GeneID:5627"
                     /db_xref="HGNC:HGNC:9456"
                     /db_xref="MIM:176880"
     CDS             148..2178
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="isoform 2 preproprotein is encoded by transcript
                     variant 2; protein Sa; vitamin K-dependent plasma protein
                     S; protein S (alpha)"
                     /codon_start=1
                     /product="vitamin K-dependent protein S isoform 2
                     preproprotein"
                     /protein_id="NP_000304.2"
                     /db_xref="CCDS:CCDS2923.1"
                     /db_xref="GeneID:5627"
                     /db_xref="HGNC:HGNC:9456"
                     /db_xref="MIM:176880"
                     /translation="MRVLGGRCGALLACLLLVLPVSEANFLSKQQASQVLVRKRRANSL
                     LEETKQGNLERECIEELCNKEEAREVFENDPETDYFYPKYLVCLRSFQTGLFTAARQST
                     NAYPDLRSCVNAIPDQCSPLPCNEDGYMSCKDGKASFTCTCKPGWQGEKCEFDINECKD
                     PSNINGGCSQICDNTPGSYHCSCKNGFVMLSNKKDCKDVDECSLKPSICGTAVCKNIPG
                     DFECECPEGYRYNLKSKSCEDIDECSENMCAQLCVNYPGGYTCYCDGKKGFKLAQDQKS
                     CEVVSVCLPLNLDTKYELLYLAEQFAGVVLYLKFRLPEISRFSAEFDFRTYDSEGVILY
                     AESIDHSAWLLIALRGGKIEVQLKNEHTSKITTGGDVINNGLWNMVSVEELEHSISIKI
                     AKEAVMDINKPGPLFKPENGLLETKVYFAGFPRKVESELIKPINPRLDGCIRSWNLMKQ
                     GASGIKEIIQEKQNKHCLVTVEKGSYYPGSGIAQFHIDYNNVSSAEGWHVNVTLNIRPS
                     TGTGVMLALVSGNNTVPFAVSLVDSTSEKSQDILLSVENTVIYRIQALSLCSDQQSHLE
                     FRVNRNNLELSTPLKIETISHEDLQRQLAVLDKAMKAKVATYLGGLPDVPFSATPVNAF
                     YNGCMEVNINGVQLDLDEAISKHNDIRAHSCPSVWKKTKNS"
     sig_peptide     148..219
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     271..2175
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /product="Vitamin K-dependent protein S.
                     /id=PRO_0000022120"
                     /note="propagated from UniProtKB/Swiss-Prot (P07225.1)"
     misc_feature    286..288
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2820795; propagated from
                     UniProtKB/Swiss-Prot (P07225.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    289..291
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2820795; propagated from
                     UniProtKB/Swiss-Prot (P07225.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    310..312
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2820795; propagated from
                     UniProtKB/Swiss-Prot (P07225.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    316..318
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2820795; propagated from
                     UniProtKB/Swiss-Prot (P07225.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    325..327
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2820795; propagated from
                     UniProtKB/Swiss-Prot (P07225.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    328..330
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2820795; propagated from
                     UniProtKB/Swiss-Prot (P07225.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    343..345
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2820795; propagated from
                     UniProtKB/Swiss-Prot (P07225.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    346..348
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2820795; propagated from
                     UniProtKB/Swiss-Prot (P07225.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    355..357
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2820795; propagated from
                     UniProtKB/Swiss-Prot (P07225.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    364..366
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2820795; propagated from
                     UniProtKB/Swiss-Prot (P07225.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    376..378
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:2820795; propagated from
                     UniProtKB/Swiss-Prot (P07225.1); gamma-carboxyglutamic-acid
                     site"
     misc_feature    409..495
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="propagated from UniProtKB/Swiss-Prot (P07225.1);
                     Region: Thrombin-sensitive"
     misc_feature    553..555
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="(3R)-3-hydroxyaspartate. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P07225.1);
                     hydroxylation site"
     misc_feature    1642..1644
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P07225.1); glycosylation site"
     misc_feature    1642..1644
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="Not glycosylated, in variant Heerlen; propagated
                     from UniProtKB/Swiss-Prot (P07225.1); other site"
     misc_feature    1672..1674
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P07225.1); glycosylation site"
     misc_feature    1735..1737
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P07225.1); glycosylation site"
     regulatory      3290..3295
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="hexamer: AATAAA"
     polyA_site      3314
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="major polyA site"
     regulatory      3349..3354
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
                     /note="hexamer: AATAAA"
     polyA_site      3372
                     /gene="PROS1"
                     /gene_synonym="PROS; PS21; PS22; PS23; PS24; PS25; PSA;
                     THPH5; THPH6"
ORIGIN
        1 gttccgccga ggctcgctgg gtcgctggcg ccgccgcgca gcacggctca gaccgaggcg
       61 cacaggctcg cagctccgcg gcgcctagcg ctccggtccc cgccgcgacg cgccaccgtc
      121 cctgccggcg cctccgcgcg cttcgaaatg agggtcctgg gtgggcgctg cggggcgctg
      181 ctggcgtgtc tcctcctagt gcttcccgtc tcagaggcaa actttttgtc aaagcaacag
      241 gcttcacaag tcctggttag gaagcgtcgt gcaaattctt tacttgaaga aaccaaacag
      301 ggtaatcttg aaagagaatg catcgaagaa ctgtgcaata aagaagaagc cagggaggtc
      361 tttgaaaatg acccggaaac ggattatttt tatccaaaat acttagtttg tcttcgctct
      421 tttcaaactg ggttattcac tgctgcacgt cagtcaacta atgcttatcc tgacctaaga
      481 agctgtgtca atgccattcc agaccagtgt agtcctctgc catgcaatga agatggatat
      541 atgagctgca aagatggaaa agcttctttt acttgcactt gtaaaccagg ttggcaagga
      601 gaaaagtgtg aatttgacat aaatgaatgc aaagatccct caaatataaa tggaggttgc
      661 agtcaaattt gtgataatac acctggaagt taccactgtt cctgtaaaaa tggttttgtt
      721 atgctttcaa ataagaaaga ttgtaaagat gtggatgaat gctctttgaa gccaagcatt
      781 tgtggcacag ctgtgtgcaa gaacatccca ggagattttg aatgtgaatg ccccgaaggc
      841 tacagatata atctcaaatc aaagtcttgt gaagatatag atgaatgctc tgagaacatg
      901 tgtgctcagc tttgtgtcaa ttaccctgga ggttacactt gctattgtga tgggaagaaa
      961 ggattcaaac ttgcccaaga tcagaagagt tgtgaggttg tttcagtgtg ccttcccttg
     1021 aaccttgaca caaagtatga attactttac ttggcggagc agtttgcagg ggttgtttta
     1081 tatttaaaat ttcgtttgcc agaaatcagc agattttcag cagaatttga tttccggaca
     1141 tatgattcag aaggcgtgat actgtacgca gaatctatcg atcactcagc gtggctcctg
     1201 attgcacttc gtggtggaaa gattgaagtt cagcttaaga atgaacatac atccaaaatc
     1261 acaactggag gtgatgttat taataatggt ctatggaata tggtgtctgt ggaagaatta
     1321 gaacatagta ttagcattaa aatagctaaa gaagctgtga tggatataaa taaacctgga
     1381 ccccttttta agccggaaaa tggattgctg gaaaccaaag tatactttgc aggattccct
     1441 cggaaagtgg aaagtgaact cattaaaccg attaaccctc gtctagatgg atgtatacga
     1501 agctggaatt tgatgaagca aggagcttct ggaataaagg aaattattca agaaaaacaa
     1561 aataagcatt gcctggttac tgtggagaag ggctcctact atcctggttc tggaattgct
     1621 caatttcaca tagattataa taatgtatcc agtgctgagg gttggcatgt aaatgtgacc
     1681 ttgaatattc gtccatccac gggcactggt gttatgcttg ccttggtttc tggtaacaac
     1741 acagtgccct ttgctgtgtc cttggtggac tccacctctg aaaaatcaca ggatattctg
     1801 ttatctgttg aaaatactgt aatatatcgg atacaggccc taagtctatg ttccgatcaa
     1861 caatctcatc tggaatttag agtcaacaga aacaatctgg agttgtcgac accacttaaa
     1921 atagaaacca tctcccatga agaccttcaa agacaacttg ccgtcttgga caaagcaatg
     1981 aaagcaaaag tggccacata cctgggtggc cttccagatg ttccattcag tgccacacca
     2041 gtgaatgcct tttataatgg ctgcatggaa gtgaatatta atggtgtaca gttggatctg
     2101 gatgaagcca tttctaaaca taatgatatt agagctcact catgtccatc agtttggaaa
     2161 aagacaaaga attcttaagg catcttttct ctgcttataa taccttttcc ttgtgtgtaa
     2221 ttatacttat gtttcaataa cagctgaagg gttttattta caatgtgcag tctttgatta
     2281 ttttgtggtc ctttcctggg atttttaaaa ggtcctttgt caaggaaaaa aattctgttg
     2341 tgatataaat cacagtaaag aaattcttac ttctcttgct atctaagaat agtgaaaaat
     2401 aacaatttta aatttgaatt tttttcctac aaatgacagt ttcaattttt gtttgtaaaa
     2461 ctaaatttta attttatcat catgaactag tgtctaaata cctatgtttt tttcagaaag
     2521 caaggaagta aactcaaaca aaagtgcgtg taattaaata ctattaatca taggcagata
     2581 ctattttgtt tatgtttttg tttttttcct gatgaaggca gaagagatgg tggtctatta
     2641 aatatgaatt gaatggaggg tcctaatgcc ttatttcaaa acaattcctc agggggaaca
     2701 gctttggctt catctttctc ttgtgtggct tcacatttaa accagtatct ttattgaatt
     2761 agaaaacaag tgggacatat tttcctgaga gcagcacagg aatcttcttc ttggcagctg
     2821 cagtctgtca ggatgagata tcagattagg ttggataggt ggggaaatct gaagtgggta
     2881 cattttttaa attttgctgt gtgggtcaca caaggtctac attacaaaag acagaattca
     2941 gggatggaaa ggagaatgaa caaatgtggg agttcatagt tttccttgaa tccaactttt
     3001 aattaccaga gtaagttgcc aaaatgtgat tgttgaagta caaaaggaac tatgaaaacc
     3061 agaacaaatt ttaacaaaag gacaaccaca gagggatata gtgaatatcg tatcattgta
     3121 atcaaagaag taaggaggta agattgccac gtgcctgctg gtactgtgat gcatttcaag
     3181 tggcagtttt atcacgtttg aatctaccat tcatagccag atgtgtatca gatgtttcac
     3241 tgacagtttt taacaataaa ttcttttcac tgtattttat atcacttata ataaatcggt
     3301 gtataatttt aaaatgcatg tgaatatctt tattatatca actgtttgaa taaaacaaaa
     3361 ttacataata ga
//
LOCUS       NM_000314               8515 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens phosphatase and tensin homolog (PTEN), transcript
            variant 1, mRNA.
ACCESSION   NM_000314
VERSION     NM_000314.8
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8515)
  AUTHORS   Shelkowitz E, Stence NV, Neuberger I, Park KL, Saenz MS, Pao E,
            Oyama N, Friedman SD PhD, Shaw DWW and Mirzaa GM.
  TITLE     Variants in PTEN Are Associated With a Diverse Spectrum of Cortical
            Dysplasia
  JOURNAL   Pediatr Neurol 147, 154-162 (2023)
   PUBMED   37619436
  REMARK    GeneRIF: Variants in PTEN Are Associated With a Diverse Spectrum of
            Cortical Dysplasia.
REFERENCE   2  (bases 1 to 8515)
  AUTHORS   Nikolatou K, Sandilands E, Roman-Fernandez A, Cumming EM, Freckmann
            E, Lilla S, Buetow L, McGarry L, Neilson M, Shaw R, Strachan D,
            Miller C, Huang DT, McNeish IA, Norman JC, Zanivan S and Bryant DM.
  TITLE     PTEN deficiency exposes a requirement for an ARF GTPase module for
            integrin-dependent invasion in ovarian cancer
  JOURNAL   EMBO J 42 (18), e113987 (2023)
   PUBMED   37577760
  REMARK    GeneRIF: PTEN deficiency exposes a requirement for an ARF GTPase
            module for integrin-dependent invasion in ovarian cancer.
REFERENCE   3  (bases 1 to 8515)
  AUTHORS   Feng T, Zhao R, Zhang H, Sun F, Hu J, Wang M, Qi M, Liu L, Gao L,
            Xiao Y, Zhen J, Chen W, Wang L and Han B.
  TITLE     Reciprocal negative feedback regulation of ATF6alpha and PTEN
            promotes prostate cancer progression
  JOURNAL   Cell Mol Life Sci 80 (10), 292 (2023)
   PUBMED   37715829
  REMARK    GeneRIF: Reciprocal negative feedback regulation of ATF6alpha and
            PTEN promotes prostate cancer progression. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 8515)
  AUTHORS   Doha ZO, Wang X, Calistri NL, Eng J, Daniel CJ, Ternes L, Kim EN,
            Pelz C, Munks M, Betts C, Kwon S, Bucher E, Li X, Waugh T, Tatarova
            Z, Blumberg D, Ko A, Kirchberger N, Pietenpol JA, Sanders ME, Langer
            EM, Dai MS, Mills G, Chin K, Chang YH, Coussens LM, Gray JW, Heiser
            LM and Sears RC.
  TITLE     MYC Deregulation and PTEN Loss Model Tumor and Stromal Heterogeneity
            of Aggressive Triple-Negative Breast Cancer
  JOURNAL   Nat Commun 14 (1), 5665 (2023)
   PUBMED   37704631
  REMARK    GeneRIF: MYC Deregulation and PTEN Loss Model Tumor and Stromal
            Heterogeneity of Aggressive Triple-Negative Breast Cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 8515)
  AUTHORS   Liang H, He S, Yang J, Jia X, Wang P, Chen X, Zhang Z, Zou X, McNutt
            MA, Shen WH and Yin Y.
  TITLE     PTENalpha, a PTEN isoform translated through alternative initiation,
            regulates mitochondrial function and energy metabolism
  JOURNAL   Cell Metab 19 (5), 836-848 (2014)
   PUBMED   24768297
REFERENCE   6  (bases 1 to 8515)
  AUTHORS   Hopkins BD, Fine B, Steinbach N, Dendy M, Rapp Z, Shaw J, Pappas K,
            Yu JS, Hodakoski C, Mense S, Klein J, Pegno S, Sulis ML, Goldstein
            H, Amendolara B, Lei L, Maurer M, Bruce J, Canoll P, Hibshoosh H and
            Parsons R.
  TITLE     A secreted PTEN phosphatase that enters cells to alter signaling and
            survival
  JOURNAL   Science 341 (6144), 399-402 (2013)
   PUBMED   23744781
  REMARK    GeneRIF: identified a 576-amino acid translational variant of PTEN,
            PTEN-Long, that arises from an alternative translation start site
            519 base pairs upstream of the ATG initiation sequence; PTEN-Long is
            a membrane-permeable lipid phosphatase that is secreted from cells
            and can enter other cells
REFERENCE   7  (bases 1 to 8515)
  AUTHORS   Steck PA, Pershouse MA, Jasser SA, Yung WK, Lin H, Ligon AH,
            Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund
            B, Teng DH and Tavtigian SV.
  TITLE     Identification of a candidate tumour suppressor gene, MMAC1, at
            chromosome 10q23.3 that is mutated in multiple advanced cancers
  JOURNAL   Nat Genet 15 (4), 356-362 (1997)
   PUBMED   9090379
REFERENCE   8  (bases 1 to 8515)
  AUTHORS   Li J, Yen C, Liaw D, Podsypanina K, Bose S, Wang SI, Puc J,
            Miliaresis C, Rodgers L, McCombie R, Bigner SH, Giovanella BC,
            Ittmann M, Tycko B, Hibshoosh H, Wigler MH and Parsons R.
  TITLE     PTEN, a putative protein tyrosine phosphatase gene mutated in human
            brain, breast, and prostate cancer
  JOURNAL   Science 275 (5308), 1943-1947 (1997)
   PUBMED   9072974
REFERENCE   9  (bases 1 to 8515)
  AUTHORS   Peiffer SL, Herzog TJ, Tribune DJ, Mutch DG, Gersell DJ and
            Goodfellow PJ.
  TITLE     Allelic loss of sequences from the long arm of chromosome 10 and
            replication errors in endometrial cancers
  JOURNAL   Cancer Res 55 (9), 1922-1926 (1995)
   PUBMED   7728760
REFERENCE   10  (bases 1 to 8515)
  AUTHORS   Yehia,L. and Eng,C.
  TITLE     PTEN Hamartoma Tumor Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301661
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U92436.1, BC005821.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
            (PMID:24768297)
            MANE Ensembl match :: ENST00000371953.8/ ENSP00000361021.3
            RefSeq Select criteria           :: based on expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC063965.8.
            On Aug 31, 2019 this sequence version replaced NM_000314.7.
            Summary: This gene was identified as a tumor suppressor that is
            mutated in a large number of cancers at high frequency. The protein
            encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate
            3-phosphatase. It contains a tensin like domain as well as a
            catalytic domain similar to that of the dual specificity protein
            tyrosine phosphatases. Unlike most of the protein tyrosine
            phosphatases, this protein preferentially dephosphorylates
            phosphoinositide substrates. It negatively regulates intracellular
            levels of phosphatidylinositol-3,4,5-trisphosphate in cells and
            functions as a tumor suppressor by negatively regulating AKT/PKB
            signaling pathway. The use of a non-canonical (CUG) upstream
            initiation site produces a longer isoform that initiates
            translation with a leucine, and is thought to be preferentially
            associated with the mitochondrial inner membrane. This longer
            isoform may help regulate energy metabolism in the mitochondria. A
            pseudogene of this gene is found on chromosome 9. Alternative
            splicing and the use of multiple translation start codons results
            in multiple transcript variants encoding different isoforms.
            [provided by RefSeq, Feb 2015].
            Transcript Variant: This variant (1) encodes multiple isoforms due
            to the use of alternative translation initiation codons. The
            longest isoform (PTEN-L, PMID:23744781; also known as PTENalpha,
            PMID: 24768297) is derived from the use of an upstream non-AUG
            (CUG) start codon, while two shorter isoforms are derived from
            downstream AUG start codons. The most abundant isoform (PTEN),
            which is derived from the use of the 5'-most AUG start codon, is
            represented in this RefSeq.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..8515
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.31"
     gene            1..8515
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="phosphatase and tensin homolog"
                     /db_xref="GeneID:5728"
                     /db_xref="HGNC:HGNC:9588"
                     /db_xref="MIM:601728"
     misc_feature    39..41
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="upstream in-frame stop codon"
     CDS             846..2057
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /EC_number="3.1.3.67"
                     /EC_number="3.1.3.16"
                     /EC_number="3.1.3.48"
                     /note="isoform PTEN is encoded by transcript variant 1;
                     phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase and
                     dual-specificity protein phosphatase PTEN; mitochondrial
                     PTENalpha; MMAC1 phosphatase and tensin homolog deleted on
                     chromosome 10; mutated in multiple advanced cancers 1;
                     phosphatase and tensin-like protein; PTENepsilon; PTEN
                     variant PTEN-K267Rfs*9; PTEN variant PTEN-R234Afs*11;
                     mitochondrial phosphatase and tensin protein alpha; protein
                     tyrosine phosphatase; PTEN variant PTEN-L247*"
                     /codon_start=1
                     /product="phosphatidylinositol 3,4,5-trisphosphate
                     3-phosphatase and dual-specificity protein phosphatase PTEN
                     isoform PTEN"
                     /protein_id="NP_000305.3"
                     /db_xref="CCDS:CCDS31238.1"
                     /db_xref="GeneID:5728"
                     /db_xref="HGNC:HGNC:9588"
                     /db_xref="MIM:601728"
                     /translation="MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGV
                     YRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAKFNCRVAQYPFEDHNPPQLELIKPF
                     CEDLDQWLSEDDNHVAAIHCKAGKGRTGVMICAYLLHRGKFLKAQEALDFYGEVRTRDK
                     KGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTCNPQFVVCQLKV
                     KIYSSNSGPTRREDKFMYFEFPQPLPVCGDIKVEFFHKQNKMLKKDKMFHFWVNTFFIP
                     GPEETSEKVENGSLCDQEIDSICSIERADNDKEYLVLTLTKNDLDKANKDKANRYFSPN
                     FKVKLYFTKTVEEPSNPEASSSTSVTPDVSDNEPDHYRYSDTTDSDPENEPFDEDQHTQ
                     ITKV"
     misc_feature    849..851
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="N-acetylthreonine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P60484.1); acetylation site"
     misc_feature    1725..1727
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O08586; propagated from
                     UniProtKB/Swiss-Prot (P60484.1); phosphorylation site"
     misc_feature    1800..1802
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:26166433; propagated from
                     UniProtKB/Swiss-Prot (P60484.1); phosphorylation site"
     misc_feature    1806..1808
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:26166433; propagated from
                     UniProtKB/Swiss-Prot (P60484.1); phosphorylation site"
     misc_feature    1851..1853
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="Phosphotyrosine, by FRK.
                     /evidence=ECO:0000269|PubMed:19345329; propagated from
                     UniProtKB/Swiss-Prot (P60484.1); phosphorylation site"
     misc_feature    1857..1889
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P60484.1);
                     Region: Required for interaction with NOP53.
                     /evidence=ECO:0000269|PubMed:15355975"
     misc_feature    1899..2054
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P60484.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1941..1943
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="Phosphothreonine, by GSK3-beta and PLK3.
                     /evidence=ECO:0000269|PubMed:12297295,
                     ECO:0000269|PubMed:20940307, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P60484.1);
                     phosphorylation site"
     misc_feature    1953..1955
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="Phosphoserine, by CK2 and PLK3.
                     /evidence=ECO:0000269|PubMed:11035045,
                     ECO:0000269|PubMed:12297295, ECO:0000269|PubMed:20940307;
                     propagated from UniProtKB/Swiss-Prot (P60484.1);
                     phosphorylation site"
     misc_feature    1983..1985
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="Phosphoserine, by ROCK1 and CK2.
                     /evidence=ECO:0000269|PubMed:11035045; propagated from
                     UniProtKB/Swiss-Prot (P60484.1); phosphorylation site"
     misc_feature    1989..1991
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="Phosphothreonine, by ROCK1 and CK2.
                     /evidence=ECO:0000269|PubMed:11035045; propagated from
                     UniProtKB/Swiss-Prot (P60484.1); phosphorylation site"
     misc_feature    1992..1994
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="Phosphothreonine, by ROCK1 and CK2.
                     /evidence=ECO:0000269|PubMed:11035045; propagated from
                     UniProtKB/Swiss-Prot (P60484.1); phosphorylation site"
     misc_feature    1998..2000
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:11035045,
                     ECO:0000269|PubMed:12297295; propagated from
                     UniProtKB/Swiss-Prot (P60484.1); phosphorylation site"
     misc_feature    2046..2054
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P60484.1);
                     Region: PDZ domain-binding.
                     /evidence=ECO:0000250|UniProtKB:O08586"
     misc_feature    2046..2048
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:10646847; propagated from
                     UniProtKB/Swiss-Prot (P60484.1); phosphorylation site"
     regulatory      2093..2098
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="hexamer: AATAAA"
     polyA_site      2115
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="major polyA site"
     regulatory      2937..2942
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="hexamer: ATTAAA"
     polyA_site      2961
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
     regulatory      5319..5324
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="hexamer: TATAAA"
     polyA_site      5340
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
     regulatory      8107..8112
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="hexamer: ATTAAA"
     polyA_site      8129
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
     regulatory      8382..8387
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="hexamer: ATTAAA"
     polyA_site      8407
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
     regulatory      8490..8495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
                     /note="hexamer: ATTAAA"
     polyA_site      8515
                     /gene="PTEN"
                     /gene_synonym="10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1;
                     PTEN1; PTENbeta; TEP1"
ORIGIN
        1 gttctctcct ctcggaagct gcagccatga tggaagtttg agagttgagc cgctgtgagg
       61 cgaggccggg ctcaggcgag ggagatgaga gacggcggcg gccgcggccc ggagcccctc
      121 tcagcgcctg tgagcagccg cgggggcagc gccctcgggg agccggccgg cctgcggcgg
      181 cggcagcggc ggcgtttctc gcctcctctt cgtcttttct aaccgtgcag cctcttcctc
      241 ggcttctcct gaaagggaag gtggaagccg tgggctcggg cgggagccgg ctgaggcgcg
      301 gcggcggcgg cggcacctcc cgctcctgga gcggggggga gaagcggcgg cggcggcggc
      361 cgcggcggct gcagctccag ggagggggtc tgagtcgcct gtcaccattt ccagggctgg
      421 gaacgccgga gagttggtct ctccccttct actgcctcca acacggcggc ggcggcggct
      481 ggcacatcca gggacccggg ccggttttaa acctcccgtg cgccgccgcc gcaccccccg
      541 tggcccgggc tccggaggcc gccggcggag gcagccgttc ggaggattat tcgtcttctc
      601 cccattccgc tgccgccgct gccaggcctc tggctgctga ggagaagcag gcccagtcgc
      661 tgcaaccatc cagcagccgc cgcagcagcc attacccggc tgcggtccag agccaagcgg
      721 cggcagagcg aggggcatca gctaccgcca agtccagagc catttccatc ctgcagaaga
      781 agccccgcca ccagcagctt ctgccatctc tctcctcctt tttcttcagc cacaggctcc
      841 cagacatgac agccatcatc aaagagatcg ttagcagaaa caaaaggaga tatcaagagg
      901 atggattcga cttagacttg acctatattt atccaaacat tattgctatg ggatttcctg
      961 cagaaagact tgaaggcgta tacaggaaca atattgatga tgtagtaagg tttttggatt
     1021 caaagcataa aaaccattac aagatataca atctttgtgc tgaaagacat tatgacaccg
     1081 ccaaatttaa ttgcagagtt gcacaatatc cttttgaaga ccataaccca ccacagctag
     1141 aacttatcaa acccttttgt gaagatcttg accaatggct aagtgaagat gacaatcatg
     1201 ttgcagcaat tcactgtaaa gctggaaagg gacgaactgg tgtaatgata tgtgcatatt
     1261 tattacatcg gggcaaattt ttaaaggcac aagaggccct agatttctat ggggaagtaa
     1321 ggaccagaga caaaaaggga gtaactattc ccagtcagag gcgctatgtg tattattata
     1381 gctacctgtt aaagaatcat ctggattata gaccagtggc actgttgttt cacaagatga
     1441 tgtttgaaac tattccaatg ttcagtggcg gaacttgcaa tcctcagttt gtggtctgcc
     1501 agctaaaggt gaagatatat tcctccaatt caggacccac acgacgggaa gacaagttca
     1561 tgtactttga gttccctcag ccgttacctg tgtgtggtga tatcaaagta gagttcttcc
     1621 acaaacagaa caagatgcta aaaaaggaca aaatgtttca cttttgggta aatacattct
     1681 tcataccagg accagaggaa acctcagaaa aagtagaaaa tggaagtcta tgtgatcaag
     1741 aaatcgatag catttgcagt atagagcgtg cagataatga caaggaatat ctagtactta
     1801 ctttaacaaa aaatgatctt gacaaagcaa ataaagacaa agccaaccga tacttttctc
     1861 caaattttaa ggtgaagctg tacttcacaa aaacagtaga ggagccgtca aatccagagg
     1921 ctagcagttc aacttctgta acaccagatg ttagtgacaa tgaacctgat cattatagat
     1981 attctgacac cactgactct gatccagaga atgaaccttt tgatgaagat cagcatacac
     2041 aaattacaaa agtctgaatt tttttttatc aagagggata aaacaccatg aaaataaact
     2101 tgaataaact gaaaatggac cttttttttt ttaatggcaa taggacattg tgtcagatta
     2161 ccagttatag gaacaattct cttttcctga ccaatcttgt tttaccctat acatccacag
     2221 ggttttgaca cttgttgtcc agttgaaaaa aggttgtgta gctgtgtcat gtatatacct
     2281 ttttgtgtca aaaggacatt taaaattcaa ttaggattaa taaagatggc actttcccgt
     2341 tttattccag ttttataaaa agtggagaca gactgatgtg tatacgtagg aattttttcc
     2401 ttttgtgttc tgtcaccaac tgaagtggct aaagagcttt gtgatatact ggttcacatc
     2461 ctaccccttt gcacttgtgg caacagataa gtttgcagtt ggctaagaga ggtttccgaa
     2521 gggttttgct acattctaat gcatgtattc gggttagggg aatggaggga atgctcagaa
     2581 aggaaataat tttatgctgg actctggacc atataccatc tccagctatt tacacacacc
     2641 tttctttagc atgctacagt tattaatctg gacattcgag gaattggccg ctgtcactgc
     2701 ttgttgtttg cgcatttttt tttaaagcat attggtgcta gaaaaggcag ctaaaggaag
     2761 tgaatctgta ttggggtaca ggaatgaacc ttctgcaaca tcttaagatc cacaaatgaa
     2821 gggatataaa aataatgtca taggtaagaa acacagcaac aatgacttaa ccatataaat
     2881 gtggaggcta tcaacaaaga atgggcttga aacattataa aaattgacaa tgatttatta
     2941 aatatgtttt ctcaattgta acgacttctc catctcctgt gtaatcaagg ccagtgctaa
     3001 aattcagatg ctgttagtac ctacatcagt caacaactta cacttatttt actagttttc
     3061 aatcataata cctgctgtgg atgcttcatg tgctgcctgc aagcttcttt tttctcatta
     3121 aatataaaat attttgtaat gctgcacaga aattttcaat ttgagattct acagtaagcg
     3181 ttttttttct ttgaagattt atgatgcact tattcaatag ctgtcagccg ttccaccctt
     3241 ttgaccttac acattctatt acaatgaatt ttgcagtttt gcacattttt taaatgtcat
     3301 taactgttag ggaattttac ttgaatactg aatacatata atgtttatat taaaaaggac
     3361 atttgtgtta aaaaggaaat tagagttgca gtaaactttc aatgctgcac acaaaaaaaa
     3421 gacatttgat ttttcagtag aaattgtcct acatgtgctt tattgatttg ctattgaaag
     3481 aatagggttt tttttttttt tttttttttt ttttttaaat gtgcagtgtt gaatcatttc
     3541 ttcatagtgc tcccccgagt tgggactagg gcttcaattt cacttcttaa aaaaaatcat
     3601 catatatttg atatgcccag actgcatacg attttaagcg gagtacaact actattgtaa
     3661 agctaatgtg aagatattat taaaaaggtt tttttttcca gaaatttggt gtcttcaaat
     3721 tataccttca ccttgacatt tgaatatcca gccattttgt ttcttaatgg tataaaattc
     3781 cattttcaat aacttattgg tgctgaaatt gttcactagc tgtggtctga cctagttaat
     3841 ttacaaatac agattgaata ggacctacta gagcagcatt tatagagttt gatggcaaat
     3901 agattaggca gaacttcatc taaaatattc ttagtaaata atgttgacac gttttccata
     3961 ccttgtcagt ttcattcaac aatttttaaa tttttaacaa agctcttagg atttacacat
     4021 ttatatttaa acattgatat atagagtatt gattgattgc tcataagtta aattggtaaa
     4081 gttagagaca actattctaa cacctcacca ttgaaattta tatgccacct tgtctttcat
     4141 aaaagctgaa aattgttacc taaaatgaaa atcaacttca tgttttgaag atagttataa
     4201 atattgttct ttgttacaat ttcgggcacc gcatattaaa acgtaacttt attgttccaa
     4261 tatgtaacat ggagggccag gtcataaata atgacattat aatgggcttt tgcactgtta
     4321 ttatttttcc tttggaatgt gaaggtctga atgagggttt tgattttgaa tgtttcaatg
     4381 tttttgagaa gccttgctta cattttatgg tgtagtcatt ggaaatggaa aaatggcatt
     4441 atatatatta tatatataaa tatatattat acatactctc cttactttat ttcagttacc
     4501 atccccatag aatttgacaa gaattgctat gactgaaagg ttttcgagtc ctaattaaaa
     4561 ctttatttat ggcagtattc ataattagcc tgaaatgcat tctgtaggta atctctgagt
     4621 ttctggaata ttttcttaga ctttttggat gtgcagcagc ttacatgtct gaagttactt
     4681 gaaggcatca cttttaagaa agcttacagt tgggccctgt accatcccaa gtcctttgta
     4741 gctcctcttg aacatgtttg ccatactttt aaaagggtag ttgaataaat agcatcacca
     4801 ttctttgctg tggcacaggt tataaactta agtggagttt accggcagca tcaaatgttt
     4861 cagctttaaa aaataaaagt agggtacaag tttaatgttt agttctagaa attttgtgca
     4921 atatgttcat aacgatggct gtggttgcca caaagtgcct cgtttacctt taaatactgt
     4981 taatgtgtca tgcatgcaga tggaaggggt ggaactgtgc actaaagtgg gggctttaac
     5041 tgtagtattt ggcagagttg ccttctacct gccagttcaa aagttcaacc tgttttcata
     5101 tagaatatat atactaaaaa atttcagtct gttaaacagc cttactctga ttcagcctct
     5161 tcagatactc ttgtgctgtg cagcagtggc tctgtgtgta aatgctatgc actgaggata
     5221 cacaaaaata ccaatatgat gtgtacagga taatgcctca tcccaatcag atgtccattt
     5281 gttattgtgt ttgttaacaa ccctttatct cttagtgtta taaactccac ttaaaactga
     5341 ttaaagtctc attcttgtca ttgtgtgggt gttttattaa atgagagttt ataattcaaa
     5401 ttgcttaagt ccattgaagt tttaattaat gggcagccaa atgtgaatac aaagttttca
     5461 gttttttttt ttcctgctgt ccttcaaagc ctactgttta aaaaaaaaaa aaaaaaaaaa
     5521 catggcctga gagtagagta tctgtctact catgtttaat taaggaaaaa cacttatttt
     5581 tagggcttta gtcatcactt cataaattgt ataagcacat taaatagcgt tctagtcctg
     5641 aaaaagtcca agattcttag aaaattgtgc atatttttat tatgacagat gtttgaagat
     5701 aattccccag aatggatttg atactttaga tttcaatttt gtggcttttg tctattattc
     5761 tgtactctgc catcagcata tggaaagctt catttactca tcatgacttg tgccatataa
     5821 aaattgatat ttcggaatag tctaaaggac tttttgtact tgaatttaat catgttgttt
     5881 ctaatattct taaaagcttg aagactaaag catatccttt caacaaagca tagtaaggta
     5941 ataagaaagt gtagtttgta caagtgttaa aaaaataaag tagacaatgt tacagtggga
     6001 cttattattt caagtttaca ttttctccat gtaatttttt aaaaagtaaa tgaaaaaatg
     6061 tgcaataatg taaaatatga agtgtatgtg tacacacatt ttatttttcg gtatcttggg
     6121 tatacgtatg gttgaaaact atactggagt ctaaaagtat tctaatttat aagaagacat
     6181 tttggtgatg tttgaaaaat agaaatgtgc tagttttgtt tttatatcat gtcctttgta
     6241 cgttgtaata tgagctggct tggttcagta aatgccatca ccatttccat tgagaattta
     6301 aaactcacca gtgtttaata tgcaggcttc caaaggctta tgaaaaaaat caagaccctt
     6361 aaatctagtt aatttgctgc taacatgaaa ctctttggtt cttttatttt tgccagataa
     6421 ttagacacac atctaaagct tagtcttaaa tggcttaagt gtagctattg attagtgctg
     6481 ttgctagttc agaaagaaat gtttgtgaat ggaaacaaga atattcagtc caaactgttg
     6541 taaggacagt acctgaaaac caggaaacag gataatggaa aaagtctttt aaagatgaaa
     6601 tgttggagcc aactttctta tagaattaat tgtatgtggc tatagaaagc ctaatgattg
     6661 ttgcttattt ttgagagcat attattcttt tatgaccata atcttgctgt ttttccatct
     6721 tccaaaagat cttccttcta atatgtatat cagaatgtgg gtagccagtc agacaaattc
     6781 atattggttg gtagctttaa aaagtttgta atgtgaagac aggaaaggac aaaatagttt
     6841 gctttggtgg tagtactctg gttgttaagc taggtatttt gagactactt ccccatcaca
     6901 acaacaataa aataatcact cataatccta tcacctggag acatagccat cgttaatatg
     6961 ttagtgacta tacaatcatg ttttcttctg tatatccatg tatattcttt aaaaatgaaa
     7021 tttatactgt acctgatctc aaagcttttt agcttagtat atctgtcatg aatttgtagg
     7081 atgttccatt gcatcagaaa acggacagtg atttgattac tttctaatgc cacagatgca
     7141 gattacatgt agttattgag aatcctttcg aattcagtgg cttaatcatg aatgtctaaa
     7201 tattgttgac attaggatga tacatgtaaa ttaaagttac atttgtttag catagacaag
     7261 cttaacattg tagatgtttc tcttcaaaaa tcatcttaaa catttgcatt tggaattgtg
     7321 ttaaatagaa tgtgtgaaac actgtattag taaacttcat cacctttcta cttccttata
     7381 gtttgaactt ttcagttttt gtagttccca aacagttgct caatttagag caaattaatt
     7441 taacacctgc caaaaaaagg ctgctgttgg cttatcagtt gtctttaaat tcaaatgctc
     7501 atgtgacttt tatcacatca aaaaatattt cattaatgat tcacctttag ctctgaaaat
     7561 taccgcgttt agtaattata gtgggcttat aaaaacatgc aactcttttt gatagttatt
     7621 tgagaatttt ggtgaaaaat atttagctga gggcagtata gaacttataa accaatatat
     7681 tgatattttt aaaacatttt tacatataag taaactgcca tctttgagca taactacatt
     7741 taaaaataaa gctgcatatt tttaaatcaa gtgtttaaca agaatttata ttttttattt
     7801 tttaaaatta aaaataattt atatttcctc tgttgcatga ggattctcat ctgtgcttat
     7861 aatggttaga gattttattt gtgtggaatg aagtgaggct tgtagtcatg gttctagtgt
     7921 ttcagtttgc caagtctgtt tactgcagtg aaattcatca aatgtttcag tgtggttttc
     7981 tgtagcctat catttactgg ctattttttt atgtacacct ttaggatttt ctgcctactc
     8041 tatccagttg tccaaatgat atcctacatt ttacaaatgc cctttcagtt tctattttct
     8101 ttttccatta aattgccctc atgtcctaat gtgcagtttg taagtgtgtg tgtgtgtgtc
     8161 tgtgtgtgtg tgaatttgat tttcaagagt gctagacttc caatttgaga gattaaataa
     8221 tttaattcag gcaaacattt ttcattggaa tttcacagtt cattgtaatg aaaatgttaa
     8281 tcctggatga cctttgacat acagtaatga atcttggata ttaatgaatt tgttagtagc
     8341 atcttgatgt gtgttttaat gagttatttt caaagttgtg cattaaacca aagttggcat
     8401 actggaagtg tttatatcaa gttccatttg gctactgatg gacaaaaaat agaaatgcct
     8461 tcctatggag agtatttttc ctttaaaaaa ttaaaaaggt taattatttt gacta
//
LOCUS       NM_000315                791 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens parathyroid hormone (PTH), transcript variant 1, mRNA.
ACCESSION   NM_000315
VERSION     NM_000315.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 791)
  AUTHORS   Liu L, Qian L, Li P, Li J, Huang S, Yi W, Liu S and Wu W.
  TITLE     [MiR-301a-5p modulates parathyroid hormone secretion in secondary
            hyperparathyroidism possibly by regulating calcium-sensing receptor]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 43 (8), 1363-1370 (2023)
   PUBMED   37712273
  REMARK    GeneRIF: [MiR-301a-5p modulates parathyroid hormone secretion in
            secondary hyperparathyroidism possibly by regulating calcium-sensing
            receptor].
REFERENCE   2  (bases 1 to 791)
  AUTHORS   Srisuwarn P and Disthabanchong S.
  TITLE     Role of Parathyroid Hormone and Parathyroid Hormone-Related Protein
            in Protein-Energy Malnutrition
  JOURNAL   Front Biosci (Landmark Ed) 28 (8), 167 (2023)
   PUBMED   37664938
  REMARK    GeneRIF: Role of Parathyroid Hormone and Parathyroid Hormone-Related
            Protein in Protein-Energy Malnutrition. Review article
REFERENCE   3  (bases 1 to 791)
  AUTHORS   Komaba H.
  TITLE     Roles of PTH and FGF23 in kidney failure: a focus on nonclassical
            effects
  JOURNAL   Clin Exp Nephrol 27 (5), 395-401 (2023)
   PUBMED   36977891
  REMARK    GeneRIF: Roles of PTH and FGF23 in kidney failure: a focus on
            nonclassical effects. Review article
REFERENCE   4  (bases 1 to 791)
  AUTHORS   Hanna P, Khatri A, Choi S, Brabant S, Gild ML, Piketty ML, Francou
            B, Prie D, Potts JT Jr, Clifton-Bligh RJ, Linglart A, Gardella TJ
            and Juppner H.
  TITLE     Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified
            in hypocalcemic patients results in secretion of a biologically
            inactive pro-hormone
  JOURNAL   Proc Natl Acad Sci U S A 120 (8), e2208047120 (2023)
   PUBMED   36795755
  REMARK    GeneRIF: Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone
            identified in hypocalcemic patients results in secretion of a
            biologically inactive pro-hormone.
REFERENCE   5  (bases 1 to 791)
  AUTHORS   Cheloha RW, Gellman SH, Vilardaga JP and Gardella TJ.
  TITLE     PTH receptor-1 signalling-mechanistic insights and therapeutic
            prospects
  JOURNAL   Nat Rev Endocrinol 11 (12), 712-724 (2015)
   PUBMED   26303600
  REMARK    Review article
REFERENCE   6  (bases 1 to 791)
  AUTHORS   Handt O, Reis A and Schmidtke J.
  TITLE     Ectopic transcription of the parathyroid hormone gene in
            lymphocytes, lymphoblastoid cells and tumour tissue
  JOURNAL   J Endocrinol 135 (2), 249-256 (1992)
   PUBMED   1474331
REFERENCE   7  (bases 1 to 791)
  AUTHORS   Parkinson DB and Thakker RV.
  TITLE     A donor splice site mutation in the parathyroid hormone gene is
            associated with autosomal recessive hypoparathyroidism
  JOURNAL   Nat Genet 1 (2), 149-152 (1992)
   PUBMED   1302009
REFERENCE   8  (bases 1 to 791)
  AUTHORS   Vasicek,T.J., McDevitt,B.E., Freeman,M.W., Fennick,B.J., Hendy,G.N.,
            Potts,J.T. Jr., Rich,A. and Kronenberg,H.M.
  TITLE     Nucleotide sequence of the human parathyroid hormone gene
  JOURNAL   Proc Natl Acad Sci U S A 80 (8), 2127-2131 (1983)
   PUBMED   6220408
REFERENCE   9  (bases 1 to 791)
  AUTHORS   Keutmann,H.T., Sauer,M.M., Hendy,G.N., O'Riordan,L.H. and Potts,J.T.
            Jr.
  TITLE     Complete amino acid sequence of human parathyroid hormone
  JOURNAL   Biochemistry 17 (26), 5723-5729 (1978)
   PUBMED   728431
REFERENCE   10  (bases 1 to 791)
  AUTHORS   Keutmann,H.T., Niall,H.D., O'Riordan,J.L. and Potts,J.T. Jr.
  TITLE     A reinvestigation of the amino-terminal sequence of human
            parathyroid hormone
  JOURNAL   Biochemistry 14 (9), 1842-1847 (1975)
   PUBMED   1125201
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX103059.1, ERR279834.9165.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2153347,
            SAMEA2153733 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000282091.6/ ENSP00000282091.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX106232.1 and AA889450.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000315.3.
            Summary: This gene encodes a member of the parathyroid family of
            proteins. The encoded preproprotein is proteolytically processed to
            generate a protein that binds to the parathyroid
            hormone/parathyroid hormone-related peptide receptor and regulates
            blood calcium and phosphate levels. Excess production of the
            encoded protein, known as hyperparathyroidism, can result in
            hypercalcemia and kidney stones. On the other hand, defective
            processing of the encoded protein may lead to hypoparathyroidism,
            which can result in hypocalcemia and numbness. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Oct
            2015].
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the shorter isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..791
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.3"
     gene            1..791
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /note="parathyroid hormone"
                     /db_xref="GeneID:5741"
                     /db_xref="HGNC:HGNC:9606"
                     /db_xref="MIM:168450"
     CDS             93..440
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; parathyroid hormone 1; parathyrin; parathormone;
                     prepro-PTH; preproparathyroid hormone"
                     /codon_start=1
                     /product="parathyroid hormone isoform 1 preproprotein"
                     /protein_id="NP_000306.1"
                     /db_xref="CCDS:CCDS7812.1"
                     /db_xref="GeneID:5741"
                     /db_xref="HGNC:HGNC:9606"
                     /db_xref="MIM:168450"
                     /translation="MIPAKDMAKVMIVMLAICFLTKSDGKSVKKRSVSEIQLMHNLGKH
                     LNSMERVEWLRKKLQDVHNFVALGAPLAPRDAGSQRPRKKEDNVLVESHEKSLGEADKA
                     DVNVLTKAKSQ"
     sig_peptide     93..167
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     186..437
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /product="Parathyroid hormone. /id=PRO_0000023250"
                     /note="propagated from UniProtKB/Swiss-Prot (P01270.1)"
     misc_feature    243..299
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /note="propagated from UniProtKB/Swiss-Prot (P01270.1);
                     Region: Important for receptor binding"
     misc_feature    309..437
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /note="propagated from UniProtKB/Swiss-Prot (P01270.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      768..773
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /note="hexamer: AATAAA"
     regulatory      772..777
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /note="hexamer: AATGAA"
     polyA_site      787
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
     polyA_site      791
                     /gene="PTH"
                     /gene_synonym="FIH1; PTH1"
                     /note="major polyA site"
ORIGIN
        1 gcagtccaat tcatcagttg tctttagttt actcagcatc agctactaac atacctgaac
       61 gaagatcttg ttctaagaca ttgtatgtga agatgatacc tgcaaaagac atggctaaag
      121 ttatgattgt catgttggca atttgttttc ttacaaaatc ggatgggaaa tctgttaaga
      181 agagatctgt gagtgaaata cagcttatgc ataacctggg aaaacatctg aactcgatgg
      241 agagagtaga atggctgcgt aagaagctgc aggatgtgca caattttgtt gcccttggag
      301 ctcctctagc tcccagagat gctggttccc agaggccccg aaaaaaggaa gacaatgtct
      361 tggttgagag ccatgaaaaa agtcttggag aggcagacaa agctgatgtg aatgtattaa
      421 ctaaagctaa atcccagtga aaatgaaaac agatattgtc agagttctgc tctagacagt
      481 gtagggcaac aatacatgct gctaattcaa agctctatta agatttccaa gtgccaatat
      541 ttctgatata acaaactaca tgtaatccat cactagccat gataactgca attttaattg
      601 attattctga ttccactttt attcatttga gttattttaa ttatcttttc tattgtttat
      661 tctttttaaa gtatgttatt gcataattta taaaagaata aaattgcact tttaaacctc
      721 tcttctacct taaaatgtaa aacaaaaatg taatgatcat aagtctaaat aaatgaagta
      781 tttctcactc a
//
LOCUS       NM_000316               2153 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript
            variant 1, mRNA.
ACCESSION   NM_000316
VERSION     NM_000316.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2153)
  AUTHORS   Zha Y, Li S, Yu YL, Huang Z, Zhang HY and Kong W.
  TITLE     Identification of a novel PTH1R variant in a family with primary
            failure of eruption
  JOURNAL   BMC Oral Health 23 (1), 509 (2023)
   PUBMED   37480042
  REMARK    GeneRIF: Identification of a novel PTH1R variant in a family with
            primary failure of eruption. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2153)
  AUTHORS   Kobayashi K, Kawakami K, Kusakizako T, Tomita A, Nishimura M, Sawada
            K, Okamoto HH, Hiratsuka S, Nakamura G, Kuwabara R, Noda H,
            Muramatsu H, Shimizu M, Taguchi T, Inoue A, Murata T and Nureki O.
  TITLE     Class B1 GPCR activation by an intracellular agonist
  JOURNAL   Nature 618 (7967), 1085-1093 (2023)
   PUBMED   37286611
  REMARK    GeneRIF: Class B1 GPCR activation by an intracellular agonist.
REFERENCE   3  (bases 1 to 2153)
  AUTHORS   Yang D, Zhou Z, Wang S, Ying H, Wang S, Ma Q, Wu J, Jiao Q, Fan L,
            Chen M, Wang Y and Zhao L.
  TITLE     A Novel Heterozygous Missense Variant in Parathyroid Hormone 1 is
            Related to the Occurrence of Developmental Dysplasia of the Hip
  JOURNAL   Genet Test Mol Biomarkers 27 (3), 74-80 (2023)
   PUBMED   36989525
  REMARK    GeneRIF: A Novel Heterozygous Missense Variant in Parathyroid
            Hormone 1 is Related to the Occurrence of Developmental Dysplasia of
            the Hip.
REFERENCE   4  (bases 1 to 2153)
  AUTHORS   Parameswaran AS, Singh K, Vyas V and Tada NK.
  TITLE     Rare Variant of PTH1R Mutation in an Indian Family
  JOURNAL   J Assoc Physicians India 71 (1), 1 (2023)
   PUBMED   37116011
  REMARK    GeneRIF: Rare Variant of PTH1R Mutation in an Indian Family.
REFERENCE   5  (bases 1 to 2153)
  AUTHORS   Pioszak AA, Harikumar KG, Parker NR, Miller LJ and Xu HE.
  TITLE     Dimeric arrangement of the parathyroid hormone receptor and a
            structural mechanism for ligand-induced dissociation
  JOURNAL   J Biol Chem 285 (16), 12435-12444 (2010)
   PUBMED   20172855
  REMARK    GeneRIF: The crystal structure of the ligand-free PTH1R
            extracellular domain (ECD) reveals a dimer in which the C-terminal
            segment of both ECD protomers forms an alpha-helix that mimics
            PTH/PTHrP by occupying the peptide binding groove of the opposing
            protomer.
REFERENCE   6  (bases 1 to 2153)
  AUTHORS   Schipani E, Langman CB, Parfitt AM, Jensen GS, Kikuchi S, Kooh SW,
            Cole WG and Juppner H.
  TITLE     Constitutively activated receptors for parathyroid hormone and
            parathyroid hormone-related peptide in Jansen's metaphyseal
            chondrodysplasia
  JOURNAL   N Engl J Med 335 (10), 708-714 (1996)
   PUBMED   8703170
REFERENCE   7  (bases 1 to 2153)
  AUTHORS   Schipani E, Weinstein LS, Bergwitz C, Iida-Klein A, Kong XF,
            Stuhrmann M, Kruse K, Whyte MP, Murray T, Schmidtke J et al.
  TITLE     Pseudohypoparathyroidism type Ib is not caused by mutations in the
            coding exons of the human parathyroid hormone (PTH)/PTH-related
            peptide receptor gene
  JOURNAL   J Clin Endocrinol Metab 80 (5), 1611-1621 (1995)
   PUBMED   7745008
REFERENCE   8  (bases 1 to 2153)
  AUTHORS   Schipani E, Kruse K and Juppner H.
  TITLE     A constitutively active mutant PTH-PTHrP receptor in Jansen-type
            metaphyseal chondrodysplasia
  JOURNAL   Science 268 (5207), 98-100 (1995)
   PUBMED   7701349
REFERENCE   9  (bases 1 to 2153)
  AUTHORS   Schneider H, Feyen JH, Seuwen K and Movva NR.
  TITLE     Cloning and functional expression of a human parathyroid hormone
            receptor
  JOURNAL   Eur J Pharmacol 246 (2), 149-155 (1993)
   PUBMED   8397094
REFERENCE   10  (bases 1 to 2153)
  AUTHORS   Dawson SJ and White LA.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U17418.1, X68596.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000449590.6/ ENSP00000402723.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC109583.2, U17418.1 and
            CA412652.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000316.2.
            Summary: The protein encoded by this gene is a member of the
            G-protein coupled receptor family 2. This protein is a receptor for
            parathyroid hormone (PTH) and for parathyroid hormone-like hormone
            (PTHLH). The activity of this receptor is mediated by G proteins
            which activate adenylyl cyclase and also a
            phosphatidylinositol-calcium second messenger system. Defects in
            this receptor are known to be the cause of Jansen's metaphyseal
            chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as
            well as enchodromatosis. Two transcript variants encoding the same
            protein have been found for this gene. [provided by RefSeq, May
            2010].
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 both encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2153
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..2153
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="parathyroid hormone 1 receptor"
                     /db_xref="GeneID:5745"
                     /db_xref="HGNC:HGNC:9608"
                     /db_xref="MIM:168468"
     misc_feature    217..219
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="upstream in-frame stop codon"
     CDS             229..2010
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="parathyroid hormone receptor 1; parathyroid
                     hormone/parathyroid hormone-related peptide receptor;
                     parathyroid hormone/parathyroid hormone-related protein
                     receptor; PTH/PTHr receptor; PTH/PTHrP type I receptor;
                     seven transmembrane helix receptor; PTH1 receptor"
                     /codon_start=1
                     /product="parathyroid hormone/parathyroid hormone-related
                     peptide receptor precursor"
                     /protein_id="NP_000307.1"
                     /db_xref="CCDS:CCDS2747.1"
                     /db_xref="GeneID:5745"
                     /db_xref="HGNC:HGNC:9608"
                     /db_xref="MIM:168468"
                     /translation="MGTARIAPGLALLLCCPVLSSAYALVDADDVMTKEEQIFLLHRAQ
                     AQCEKRLKEVLQRPASIMESDKGWTSASTSGKPRKDKASGKLYPESEEDKEAPTGSRYR
                     GRPCLPEWDHILCWPLGAPGEVVAVPCPDYIYDFNHKGHAYRRCDRNGSWELVPGHNRT
                     WANYSECVKFLTNETREREVFDRLGMIYTVGYSVSLASLTVAVLILAYFRRLHCTRNYI
                     HMHLFLSFMLRAVSIFVKDAVLYSGATLDEAERLTEEELRAIAQAPPPPATAAAGYAGC
                     RVAVTFFLYFLATNYYWILVEGLYLHSLIFMAFFSEKKYLWGFTVFGWGLPAVFVAVWV
                     SVRATLANTGCWDLSSGNKKWIIQVPILASIVLNFILFINIVRVLATKLRETNAGRCDT
                     RQQYRKLLKSTLVLMPLFGVHYIVFMATPYTEVSGTLWQVQMHYEMLFNSFQGFFVAII
                     YCFCNGEVQAEIKKSWSRWTLALDFKRKARSGSSSYSYGPMVSHTSVTNVGPRVGLGLP
                     LSPRLLPTATTNGHPQLPGHAKPGTPALETLETTPPAMAAPKDDGFLNGSCSGLDEEAS
                     GPERPPALLQEEWETVM"
     sig_peptide     229..312
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    424..534
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03431.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    679..681
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q03431.1); glycosylation site"
     misc_feature    709..711
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q03431.1); glycosylation site"
     misc_feature    724..726
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q03431.1); glycosylation site"
     misc_feature    754..756
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q03431.1); glycosylation site"
     misc_feature    793..864
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03431.1);
                     transmembrane region"
     misc_feature    886..945
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03431.1);
                     transmembrane region"
     misc_feature    1075..1146
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03431.1);
                     transmembrane region"
     misc_feature    1189..1254
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03431.1);
                     transmembrane region"
     misc_feature    1312..1374
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03431.1);
                     transmembrane region"
     misc_feature    1456..1512
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03431.1);
                     transmembrane region"
     misc_feature    1549..1617
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03431.1);
                     transmembrane region"
     misc_feature    1648..1659
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03431.1);
                     Region: Important for interaction with G proteins"
     misc_feature    1798..2007
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03431.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1879..1881
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q03431.1); phosphorylation site"
     regulatory      2125..2130
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="hexamer: AAGAAA"
     regulatory      2136..2141
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="hexamer: AAGAAA"
     polyA_site      2149
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="major polyA site"
     polyA_site      2153
                     /gene="PTH1R"
                     /gene_synonym="EKNS; PFE; PTHR; PTHR1"
                     /note="major polyA site"
ORIGIN
        1 agcactatcc ttgcttaggc ctgagccaca gaagctgctc agggactatc catggcctcc
       61 ccgtggccaa cttgagtctg ctctgcagct ttaggcccga cttggaaggc ccatgggctg
      121 cagatgagga aactgaggtc cagacagccg aagagtggta gtgtccagga cacacaactg
      181 ggccggcggc ggcggctgcc ccgagggacg cggccctagg cggtggcgat ggggaccgcc
      241 cggatcgcac ccggcctggc gctcctgctc tgctgccccg tgctcagctc cgcgtacgcg
      301 ctggtggatg cagatgacgt catgactaaa gaggaacaga tcttcctgct gcaccgtgct
      361 caggcccagt gcgaaaaacg gctcaaggag gtcctgcaga ggccagccag cataatggaa
      421 tcagacaagg gatggacatc tgcgtccaca tcagggaagc ccaggaaaga taaggcatct
      481 gggaagctct accctgagtc tgaggaggac aaggaggcac ccactggcag caggtaccga
      541 gggcgcccct gtctgccgga atgggaccac atcctgtgct ggccgctggg ggcaccaggt
      601 gaggtggtgg ctgtgccctg tccggactac atttatgact tcaatcacaa aggccatgcc
      661 taccgacgct gtgaccgcaa tggcagctgg gagctggtgc ctgggcacaa caggacgtgg
      721 gccaactaca gcgagtgtgt caaatttctc accaatgaga ctcgtgaacg ggaggtgttt
      781 gaccgcctgg gcatgattta caccgtgggc tactccgtgt ccctggcgtc cctcaccgta
      841 gctgtgctca tcctggccta ctttaggcgg ctgcactgca cgcgcaacta catccacatg
      901 cacctgttcc tgtccttcat gctgcgcgcc gtgagcatct tcgtcaagga cgctgtgctc
      961 tactctggcg ccacgcttga tgaggctgag cgcctcaccg aggaggagct gcgcgccatc
     1021 gcccaggcgc ccccgccgcc tgccaccgcc gctgccggct acgcgggctg cagggtggct
     1081 gtgaccttct tcctttactt cctggccacc aactactact ggattctggt ggaggggctg
     1141 tacctgcaca gcctcatctt catggccttc ttctcagaga agaagtacct gtggggcttc
     1201 acagtcttcg gctggggtct gcccgctgtc ttcgtggctg tgtgggtcag tgtcagagct
     1261 accctggcca acaccgggtg ctgggacttg agctccggga acaaaaagtg gatcatccag
     1321 gtgcccatcc tggcctccat tgtgctcaac ttcatcctct tcatcaatat cgtccgggtg
     1381 ctcgccacca agctgcggga gaccaacgcc ggccggtgtg acacacggca gcagtaccgg
     1441 aagctgctca aatccacgct ggtgctcatg cccctctttg gcgtccacta cattgtcttc
     1501 atggccacac catacaccga ggtctcaggg acgctctggc aagtccagat gcactatgag
     1561 atgctcttca actccttcca gggatttttt gtcgcaatca tatactgttt ctgcaatggc
     1621 gaggtacaag ctgagatcaa gaaatcttgg agccgctgga cactggcact ggacttcaag
     1681 cgaaaggcac gcagcgggag cagcagctat agctacggcc ccatggtgtc ccacacaagt
     1741 gtgaccaatg tcggcccccg tgtgggactc ggcctgcccc tcagcccccg cctactgccc
     1801 actgccacca ccaacggcca ccctcagctg cctggccatg ccaagccagg gaccccagcc
     1861 ctggagaccc tcgagaccac accacctgcc atggctgctc ccaaggacga tgggttcctc
     1921 aacggctcct gctcaggcct ggacgaggag gcctctgggc ctgagcggcc acctgccctg
     1981 ctacaggaag agtgggagac agtcatgtga ccaggcgctg ggggctggac ctgctgacat
     2041 agtggatgga cagatggacc aaaagatggg tggttgaatg atttcccact cagggctggg
     2101 gccaagagga aaaacaggga aaaaaagaaa aaaaaaagaa aaaggaaaag gaa
//
LOCUS       NM_000317                872 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), mRNA.
ACCESSION   NM_000317
VERSION     NM_000317.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 872)
  AUTHORS   Himmelreich N, Blau N and Thony B.
  TITLE     Molecular and metabolic bases of tetrahydrobiopterin (BH4)
            deficiencies
  JOURNAL   Mol Genet Metab 133 (2), 123-136 (2021)
   PUBMED   33903016
  REMARK    GeneRIF: Molecular and metabolic bases of tetrahydrobiopterin (BH4)
            deficiencies. Review article
REFERENCE   2  (bases 1 to 872)
  AUTHORS   Gundorova P, Kuznetcova IA, Baydakova GV, Stepanova AA, Itkis YS,
            Kakaulina VS, Alferova IP, Lyazina LV, Andreeva LP, Kanivets I,
            Zakharova EY, Kutsev SI and Polyakov AV.
  TITLE     BH4-deficient hyperphenylalaninemia in Russia
  JOURNAL   PLoS One 16 (4), e0249608 (2021)
   PUBMED   33822819
  REMARK    GeneRIF: BH4-deficient hyperphenylalaninemia in Russia. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 872)
  AUTHORS   Manzoni F, Salvatici E, Burlina A, Andrews A, Pasquali M and Longo
            N.
  TITLE     Retrospective analysis of 19 patients with 6-Pyruvoyl
            Tetrahydropterin Synthase Deficiency: Prolactin levels inversely
            correlate with growth
  JOURNAL   Mol Genet Metab 131 (4), 380-389 (2020)
   PUBMED   33234470
  REMARK    GeneRIF: Retrospective analysis of 19 patients with 6-Pyruvoyl
            Tetrahydropterin Synthase Deficiency: Prolactin levels inversely
            correlate with growth.
REFERENCE   4  (bases 1 to 872)
  AUTHORS   Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci
            C, Donati MA, Gueraldi D, Paci S, Pochiero F, Porta F, Ortolano R,
            Rovelli V, Schiaffino MC, Spada M, Blau N and Leuzzi V.
  TITLE     Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin
            synthase-deficient patients
  JOURNAL   Mol Genet Metab 131 (1-2), 155-162 (2020)
   PUBMED   32651154
  REMARK    GeneRIF: Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin
            synthase-deficient patients.
REFERENCE   5  (bases 1 to 872)
  AUTHORS   Thony B, Auerbach G and Blau N.
  TITLE     Tetrahydrobiopterin biosynthesis, regeneration and functions
  JOURNAL   Biochem J 347 Pt 1 (Pt 1), 1-16 (2000)
   PUBMED   10727395
  REMARK    Review article
REFERENCE   6  (bases 1 to 872)
  AUTHORS   Kluge C, Brecevic L, Heizmann CW, Blau N and Thony B.
  TITLE     Chromosomal localization, genomic structure and characterization of
            the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin
            synthase
  JOURNAL   Eur J Biochem 240 (2), 477-484 (1996)
   PUBMED   8841415
  REMARK    Erratum:[Eur J Biochem 1996 Oct 15;241(2):697]
REFERENCE   7  (bases 1 to 872)
  AUTHORS   Oppliger T, Thony B, Nar H, Burgisser D, Huber R, Heizmann CW and
            Blau N.
  TITLE     Structural and functional consequences of mutations in
            6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in
            humans. Phosphorylation is a requirement for in vivo activity
  JOURNAL   J Biol Chem 270 (49), 29498-29506 (1995)
   PUBMED   7493990
REFERENCE   8  (bases 1 to 872)
  AUTHORS   Thony B, Leimbacher W, Burgisser D and Heizmann CW.
  TITLE     Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and
            heterologous expression of the recombinant enzyme
  JOURNAL   Biochem Biophys Res Commun 189 (3), 1437-1443 (1992)
   PUBMED   1282802
REFERENCE   9  (bases 1 to 872)
  AUTHORS   Werner ER, Werner-Felmayer G, Fuchs D, Hausen A, Reibnegger R, Yim
            JJ and Wachter H.
  TITLE     Biochemistry and function of pteridine synthesis in human and murine
            macrophages
  JOURNAL   Pathobiology 59 (4), 276-279 (1991)
   PUBMED   1883524
  REMARK    Review article
REFERENCE   10  (bases 1 to 872)
  AUTHORS   Scriver CR, Clow CL, Kaplan P and Niederwieser A.
  TITLE     Hyperphenylalaninemia due to deficiency of 6-pyruvoyl
            tetrahydropterin synthase. Unusual gene dosage effect in
            heterozygotes
  JOURNAL   Hum Genet 77 (2), 168-171 (1987)
   PUBMED   3308682
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BG505490.1, SRR5189652.109963.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000280362.8/ ENSP00000280362.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC009686.1, AP002884.5 and
            CF529329.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000317.2.
            Summary: The enzyme encoded by this gene catalyzes the elimination
            of inorganic triphosphate from dihydroneopterin triphosphate, which
            is the second and irreversible step in the biosynthesis of
            tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as
            BH(4), is an essential cofactor and regulator of various enzyme
            activities, including enzymes involved in serotonin biosynthesis
            and NO synthase activity. Mutations in this gene result in
            hyperphenylalaninemia. [provided by RefSeq, Oct 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..872
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.1"
     gene            1..872
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /note="6-pyruvoyltetrahydropterin synthase"
                     /db_xref="GeneID:5805"
                     /db_xref="HGNC:HGNC:9689"
                     /db_xref="MIM:612719"
     CDS             17..454
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /EC_number="4.2.3.12"
                     /note="PTP synthase"
                     /codon_start=1
                     /product="6-pyruvoyl tetrahydrobiopterin synthase"
                     /protein_id="NP_000308.1"
                     /db_xref="CCDS:CCDS8359.1"
                     /db_xref="GeneID:5805"
                     /db_xref="HGNC:HGNC:9689"
                     /db_xref="MIM:612719"
                     /translation="MSTEGGGRRCQAQVSRRISFSASHRLYSKFLSDEENLKLFGKCNN
                     PNGHGHNYKVVVTVHGEIDPATGMVMNLADLKKYMEEAIMQPLDHKNLDMDVPYFADVV
                     STTENVAVYIWDNLQKVLPVGVLYKVKVYETDNNIVVYKGE"
     misc_feature    71..73
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /note="Phosphoserine, by PKG.
                     /evidence=ECO:0000269|PubMed:10531334,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q03393.1);
                     phosphorylation site"
     misc_feature    98..100
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R1Z7; propagated from
                     UniProtKB/Swiss-Prot (Q03393.1); phosphorylation site"
     misc_feature    398..400
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q03393.1); phosphorylation site"
     regulatory      683..688
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /note="hexamer: ATTAAA"
     polyA_site      709
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /note="major polyA site"
     regulatory      850..855
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /note="hexamer: AATAAA"
     polyA_site      872
                     /gene="PTS"
                     /gene_synonym="PTPS"
ORIGIN
        1 agacagcgcc gggaagatga gcacggaagg tggtggccgt cgctgccagg cacaagtgtc
       61 ccgccgcatc tccttcagcg cgagccaccg attgtacagt aaatttctaa gtgatgaaga
      121 aaacttgaaa ctgtttggga aatgcaacaa tccaaatggc catgggcaca attataaagt
      181 tgtggtgaca gtacatggag agattgaccc tgctacggga atggttatga atctggctga
      241 tctcaaaaaa tatatggagg aggcgattat gcagcccctt gatcataaga atctggatat
      301 ggatgtgcca tactttgcag atgtggtgag cacgactgaa aatgtagctg tttatatctg
      361 ggacaacctc cagaaagttc ttcctgtagg agttctttat aaagtaaaag tatacgaaac
      421 tgacaataat attgtggttt ataaaggaga atagctattg gggttagcat tgcacaaagc
      481 ccagtttctt tctgtgtttg aaaaagattt tgatcccctt ggaatattaa gaggtcaaca
      541 cgtgattgtt gtacgtacac attgtgctct ggagtgccta tttattgaaa tcattgtaag
      601 acctgttata aatttaagtc tatttaaaac taaacttgta atatacatcc tgaaaatcat
      661 ttagagagtc ttttatttat aaattaaaaa tcacttcatt ttcacaaaat gttttggtgt
      721 gggattattt gaaagcaaaa gaaatctaat tttgttttct ccattacctc attttagtat
      781 taatttttac ttggtataat atacatggtt aaaatgctta tgtgacttcg agtaggtgaa
      841 tcttaaagaa ataaaattca agtgaccaca aa
//
LOCUS       NM_000318               4169 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens peroxisomal biogenesis factor 2 (PEX2), transcript
            variant 1, mRNA.
ACCESSION   NM_000318
VERSION     NM_000318.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4169)
  AUTHORS   Feng P, Wu X, Erramilli SK, Paulo JA, Knejski P, Gygi SP, Kossiakoff
            AA and Rapoport TA.
  TITLE     A peroxisomal ubiquitin ligase complex forms a retrotranslocation
            channel
  JOURNAL   Nature 607 (7918), 374-380 (2022)
   PUBMED   35768507
REFERENCE   2  (bases 1 to 4169)
  AUTHORS   Ding L, Sun W, Balaz M, He A, Klug M, Wieland S, Caiazzo R, Raverdy
            V, Pattou F, Lefebvre P, Lodhi IJ, Staels B, Heim M and Wolfrum C.
  TITLE     Peroxisomal beta-oxidation acts as a sensor for intracellular fatty
            acids and regulates lipolysis
  JOURNAL   Nat Metab 3 (12), 1648-1661 (2021)
   PUBMED   34903883
REFERENCE   3  (bases 1 to 4169)
  AUTHORS   Cai M, Sun X, Wang W, Lian Z, Wu P, Han S, Chen H and Zhang P.
  TITLE     Disruption of peroxisome function leads to metabolic stress, mTOR
            inhibition, and lethality in liver cancer cells
  JOURNAL   Cancer Lett 421, 82-93 (2018)
   PUBMED   29458144
  REMARK    GeneRIF: we report here that PEX2 and other peroxins are essential
            for the viability of liver cancer cells
REFERENCE   4  (bases 1 to 4169)
  AUTHORS   Biermanns M and Gartner J.
  TITLE     Genomic organization and characterization of human PEX2 encoding a
            35-kDa peroxisomal membrane protein
  JOURNAL   Biochem Biophys Res Commun 273 (3), 985-990 (2000)
   PUBMED   10891359
REFERENCE   5  (bases 1 to 4169)
  AUTHORS   Distel B, Erdmann R, Gould SJ, Blobel G, Crane DI, Cregg JM, Dodt G,
            Fujiki Y, Goodman JM, Just WW, Kiel JA, Kunau WH, Lazarow PB,
            Mannaerts GP, Moser HW, Osumi T, Rachubinski RA, Roscher A,
            Subramani S, Tabak HF, Tsukamoto T, Valle D, van der Klei I, van
            Veldhoven PP and Veenhuis M.
  TITLE     A unified nomenclature for peroxisome biogenesis factors
  JOURNAL   J Cell Biol 135 (1), 1-3 (1996)
   PUBMED   8858157
  REMARK    Review article
REFERENCE   6  (bases 1 to 4169)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24501781
REFERENCE   7  (bases 1 to 4169)
  AUTHORS   Steinberg,S.J., Raymond,G.V., Braverman,N.E. and Moser,A.B.
  TITLE     Zellweger Spectrum Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301621
REFERENCE   8  (bases 1 to 4169)
  AUTHORS   Patarca R and Fletcher MA.
  TITLE     Ring finger in the peroxisome assembly factor-1
  JOURNAL   FEBS Lett 312 (1), 1-2 (1992)
   PUBMED   1426230
REFERENCE   9  (bases 1 to 4169)
  AUTHORS   Shimozawa N, Tsukamoto T, Suzuki Y, Orii T, Shirayoshi Y, Mori T and
            Fujiki Y.
  TITLE     A human gene responsible for Zellweger syndrome that affects
            peroxisome assembly
  JOURNAL   Science 255 (5048), 1132-1134 (1992)
   PUBMED   1546315
  REMARK    GeneRIF: The cause of the syndrome in this patient was a point
            mutation that resulted in the premature termination of peroxisome
            assembly factor-1.
REFERENCE   10  (bases 1 to 4169)
  AUTHORS   Tsukamoto T, Miura S and Fujiki Y.
  TITLE     Restoration by a 35K membrane protein of peroxisome assembly in a
            peroxisome-deficient mammalian cell mutant
  JOURNAL   Nature 350 (6313), 77-81 (1991)
   PUBMED   1750930
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.161192.1,
            SRR1803614.217628.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467144
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000357039.9/ ENSP00000349543.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090810.14.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000318.2.
            Summary: This gene encodes an integral peroxisomal membrane protein
            required for peroxisome biogenesis. The protein is thought to be
            involved in peroxisomal matrix protein import. Mutations in this
            gene result in one form of Zellweger syndrome and infantile Refsum
            disease. Alternative splicing results in multiple transcript
            variants encoding the same protein. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) and variants 2, 3 and 4 encode
            the same protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4169
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.13"
     gene            1..4169
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="peroxisomal biogenesis factor 2"
                     /db_xref="GeneID:5828"
                     /db_xref="HGNC:HGNC:9717"
                     /db_xref="MIM:170993"
     misc_feature    3
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="alt transcription initiation site"
     misc_feature    71
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="alt transcription initiation site"
     misc_feature    135..137
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="upstream in-frame stop codon"
     CDS             249..1166
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /EC_number="2.3.2.27"
                     /EC_number="2.3.2.36"
                     /note="peroxisomal membrane protein 3, 35kDa; RING finger
                     protein 72; peroxisome assembly factor 1; 35 kDa
                     peroxisomal membrane protein"
                     /codon_start=1
                     /product="peroxisome biogenesis factor 2"
                     /protein_id="NP_000309.2"
                     /db_xref="CCDS:CCDS6221.1"
                     /db_xref="GeneID:5828"
                     /db_xref="HGNC:HGNC:9717"
                     /db_xref="MIM:170993"
                     /translation="MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFK
                     PGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSVLNIKYKNDFSPNLRYQPPSKNQKI
                     WYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQRGKF
                     ATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSS
                     WCIPLTGAPNSDNTLATSGKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCP
                     KCGTEVHSLQPLKSGIEMSEVNAL"
     misc_feature    294..374
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="propagated from UniProtKB/Swiss-Prot (P28328.2);
                     transmembrane region"
     misc_feature    393..470
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="propagated from UniProtKB/Swiss-Prot (P28328.2);
                     transmembrane region"
     misc_feature    498..500
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P28328.2); acetylation site"
     misc_feature    543..623
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="propagated from UniProtKB/Swiss-Prot (P28328.2);
                     transmembrane region"
     misc_feature    648..728
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="propagated from UniProtKB/Swiss-Prot (P28328.2);
                     transmembrane region"
     misc_feature    810..881
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="propagated from UniProtKB/Swiss-Prot (P28328.2);
                     transmembrane region"
     regulatory      1484..1489
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="hexamer: GATAAA"
     polyA_site      1506
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="major polyA site"
     regulatory      2339..2344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="hexamer: AATAAA"
     polyA_site      2357
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
     regulatory      2912..2917
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="hexamer: AATAAA"
     polyA_site      2933
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
     regulatory      4142..4147
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="hexamer: AATAAA"
     regulatory      4151..4156
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="hexamer: AACAAA"
     polyA_site      4165
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
     polyA_site      4169
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
ORIGIN
        1 aatccagatt cggctaggaa aagacaagct ttccagagaa tgtttcagag aaagttacgt
       61 ggagcgtggg cgtttcgcag actcctaagt ggtctggaac ctaacctgca gtgtctctga
      121 gcttctggca agtatgaggc aaggatttca cagaagaact tggagcaaaa attcccactg
      181 tcatagctat aggctgtcca gtcttgaggg agctgcagga acaggaaaaa gagaccttca
      241 gagaagacat ggcttccaga aaagagaatg cgaagagtgc aaacagagtg ctaagaataa
      301 gccagttgga tgcacttgaa ctaaacaagg ccctggagca gctagtttgg tcccagttta
      361 ctcagtgctt tcatggattt aaacctgggc tgttagctcg ctttgagcca gaggtgaaag
      421 cgtgcttatg ggttttcttg tggagattca ccatctactc caaaaatgcc acagtgggac
      481 agtcagtttt gaatattaag tacaaaaatg atttttcccc taacctgaga tatcagccac
      541 ccagtaaaaa tcaaaaaatc tggtatgctg tttgtacaat tggtggcagg tggttagaag
      601 aacgatgcta tgatttgttt cgaaaccatc atttagcatc atttgggaaa gtcaagcagt
      661 gtgtgaattt tgtgattgga cttttgaaat taggtgggct gattaatttt ttgattttcc
      721 ttcagagggg aaagtttgca actttgacag aacgtctcct aggtattcat tctgtatttt
      781 gcaagcctca aaacatatgt gaagttggct ttgaatacat gaatagggaa cttctctggc
      841 atggttttgc tgaatttctg atttttctct taccacttat caatgtccag aagttgaaag
      901 ccaagctgtc ttcatggtgt attcctctta ctggtgcacc taatagtgac aatacattag
      961 ccaccagtgg caaagaatgc gctctatgtg gagagtggcc caccatgcct cacaccatag
     1021 gatgtgagca tattttctgt tatttctgtg ctaagagtag tttcttattt gacgtgtact
     1081 ttacttgtcc taagtgtggc acagaagtac acagtctgca gccactgaaa tcaggaatcg
     1141 agatgtcaga agtaaatgct ctttagaaac taaaattgct tcctttgagg aaaaaaatgc
     1201 accgtgttta aattcttaat attagtcatc ctaagtatac catttatgta tcctttataa
     1261 ggaatgtgct cctagccact gtcttctcct ttccaggcat gactgaaatc taatcactgg
     1321 aaaccatgtg attctaaata tattatgtaa atgttaatgt attatgtttt ttaaatcatt
     1381 gcattcaatt tttaatgtca agaataatgg acagcttttg tcaggtgact actaacaatg
     1441 ctccttcatt ttactacttc ttaaaacaag gttggattct aaagataaag attttggaga
     1501 ctctgggatg agtgtgcatt tattttcaga gttgacataa tatgataatg tgacaattat
     1561 gagactgttt taaaccttaa gacctgatgc ctcagttgta actttttttt ttttttctga
     1621 gacggtgtcc tgctctgtca cccaggctgg agtgcagtgg cgcgatctct gctcactgca
     1681 acgtccgcct cccgggttca agcaattctc ctgcctcagc ctcccgagta gctggcactg
     1741 caggtgcatg ccaccatgcc cgggtaattt ttgtattttt agtagagatg gggttcactg
     1801 tgttagccag gatggtctct atctcctgat ctggtgatcc acctgcgtca gcctcccaaa
     1861 gtgctgagat tacagacgtg agccactgtg cttggccgcc tcagttgtaa tgttatgctt
     1921 ttctctgaag ccaattttta agaagttcag tcctcagctg tctgacccct ccacagttgg
     1981 ctttatattc agaaagtaaa aattacttaa ggcagcttgg aagtgaggcc tgggaactac
     2041 tgggggcaac tagtatgaac agcactattt acaggtctct ttctcttgcc tttgattcag
     2101 agctgtcatt ctcagtaaat attgatagtt ttattgaaac aaaaggggtc tttagcatgg
     2161 gaatagtaac agcagtgcat aatcaagata attctgtatc cttcactctt tttctctgcc
     2221 tttttttact taaaagtaaa ttcagactct taaaatggta tagaattatt agcttgaaca
     2281 ttgaattatc tcgtcttaac tagaatgttt tttaaaaaac agtttttaaa tgtttttaaa
     2341 taaacatctt gctagtatga tggaaataca ctgccagttc atttttctct tcacctttca
     2401 ttgaacaagt actcaggtgc caggtactga tgtagccatt agaggcacaa cagtatatta
     2461 agcaggaaaa atcaagttac cttcatggag tttacattct gtgattgaat gaactgtaag
     2521 tttaatttag gttcaattta gtgtaagata ctgaagaagt tttgtagttt gagttaagag
     2581 tattttacat cttaagaatt tgccttcttt tgccttctgt aattttaaaa cattattgta
     2641 gaaaacacca acaattcagg aaaaaatata aaatcaactt tcccacaatt ttttgagaga
     2701 gatcatcact atattttact atatttgtag atttgttgca cgtacatttc ttatttacaa
     2761 aattattata atgcataaaa aatagcattt tttcctatgt ataaatattc ttcaaaacta
     2821 ttttagggct gagcacaatg gctcatgcct gtaatcccag gctccctact tagggaggct
     2881 gagcccagga gtttgagttc gtttctaaaa aaataaaaat atatacaaac gtctttgttt
     2941 tttgtttgtt tgtttgtttt tggtgagaaa gggcctcacc cagtcaccca ggttggagtg
     3001 cagtggtgtg atcatggcta accgcagcct ttccctccca gggctcaagc gatcctccca
     3061 tctgagcctc ccaagttgct gggaccacag gcccatacca ccatgcctgg ctaatttttg
     3121 tagagatgag gtctcacttt gttgcccagg ctggtcttga acttctgggc tcaagcagtc
     3181 ctcctaccct ggcctcccaa agttgtggga ttacaggcat gagccactgc acccagccat
     3241 aatatatttt taaaatgcta tgtatatgcc atcatattcc tattcctatt attatttaac
     3301 caccatcata gagcatttag gttcttttca ctttctgttg tgaataatgc aatgttgaat
     3361 ctgagttcat taagtgaaga gtccagctgc acactgcagg cccagtctgg atgtaggtgc
     3421 tcagatggtt ctctttgaga caggctttat cctttggctc tcattttttt gatgagtgta
     3481 catggcatga gggacacaga ttccgctaga attcaaatcc cacttgtgta taacctaggg
     3541 caatgtgcca catctctgca catctgttca ttgtaaggat tacatgttta gtgtatataa
     3601 agctcttaaa acaatgcctg acacatagta aatagaatat aatagtagtg ctttcctttg
     3661 ctgttgtcag tattactctg agtcggtttc attctcacac agaatgatgg ccgctagaag
     3721 ctcaaggctt ataatctgct agctttctga tcccactggc atgagatact cttgcctaat
     3781 agttacagct aaagtccagg agctcactgt tactggtctg ccttggatta tgtgcacatt
     3841 cctgaaccag ccactatagc taggggatgg aaaatactgt tcctggttac ttaaatgtag
     3901 gtgatgctcc tcccatatac cacatgaacc taaaggagtc ctggaggagg ccgttcacca
     3961 caggaaactg aggtgttctt agaagggtgg atgctggcag atctctacta gttagagtct
     4021 acatttgcct tactcatttc aaaagtccac attgcagtct cattttacca gtgatctagc
     4081 ttgataagga cattcataag taactggatg attctttaac attgcagatt tgaaaggatt
     4141 aaataaagtc aacaaaattg ttatatcaa
//
LOCUS       NM_000320               1507 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens quinoid dihydropteridine reductase (QDPR), transcript
            variant 1, mRNA.
ACCESSION   NM_000320
VERSION     NM_000320.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1507)
  AUTHORS   Chandrashekaran S, Karthikeyan S, Balakrishnan A, Nair S, Satheesh
            Kumar MK, Vattathara JJ and Menon KN.
  TITLE     Expression and Purification of Quinine Dihydro Pteridine Reductase
            from astrocytes and its significance in the astrocyte pathology
  JOURNAL   Int J Biol Macromol 110, 567-572 (2018)
   PUBMED   29355631
  REMARK    GeneRIF: show for the first time statistically significant up
            regulation of iNOS in QDPR overexpressing astrocytes. Increased
            expression of iNOS associated with astrocyte pathology seen in many
            neurodegenerative disorders may have implications in autoimmune
            neurodegenerative disorders.
REFERENCE   2  (bases 1 to 1507)
  AUTHORS   Si Q, Sun S and Gu Y.
  TITLE     A278C mutation of dihydropteridine reductase decreases autophagy via
            mTOR signaling
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 49 (8), 706-712 (2017)
   PUBMED   28633336
  REMARK    GeneRIF: Mutation of dihydropteridine reductase (QDPR) inhibited the
            regulation of TOR serine-threonine kinases (mTOR), suggesting that
            QDPR is a positive regulator of autophagy via suppressing mTOR
            signaling.
REFERENCE   3  (bases 1 to 1507)
  AUTHORS   Zahra C, Tabone C, Camilleri G, Felice AE, Farrugia R and Bezzina
            Wettinger S.
  TITLE     Genetic causes of Parkinson's disease in the Maltese: a study of
            selected mutations in LRRK2, MTHFR, QDPR and SPR
  JOURNAL   BMC Med Genet 17 (1), 65 (2016)
   PUBMED   27613114
  REMARK    GeneRIF: The allele frequencies for the QDPR c.68G > A(0.3%)
            polymorphism is not a major cause of Parkinson's disease in the
            Maltese. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1507)
  AUTHORS   Lu DY, Ye J, Han LS, Qiu WJ, Zhang HW, Zhou JD, Bao PZ, Zhang YF and
            Gu XF.
  TITLE     QDPR gene mutation and clinical follow-up in Chinese patients with
            dihydropteridine reductase deficiency
  JOURNAL   World J Pediatr 10 (3), 219-226 (2014)
   PUBMED   25124972
  REMARK    GeneRIF: The mutation spectrum of the QDPR gene is different in the
            Chinese population. Most mutations are related to severe phenotype.
REFERENCE   5  (bases 1 to 1507)
  AUTHORS   Golini L, Chouabe C, Berthier C, Cusimano V, Fornaro M, Bonvallet R,
            Formoso L, Giacomello E, Jacquemond V and Sorrentino V.
  TITLE     Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel
            dihydropyridine receptors (DHPRs) in skeletal muscle
  JOURNAL   J Biol Chem 286 (51), 43717-43725 (2011)
   PUBMED   22020936
  REMARK    GeneRIF: JP1 and JP2 can facilitate the assembly of DHPR with other
            proteins of the excitation-contraction coupling machinery
REFERENCE   6  (bases 1 to 1507)
  AUTHORS   Howells DW, Forrest SM, Dahl HH and Cotton RG.
  TITLE     Insertion of an extra codon for threonine is a cause of
            dihydropteridine reductase deficiency
  JOURNAL   Am J Hum Genet 47 (2), 279-285 (1990)
   PUBMED   2116088
REFERENCE   7  (bases 1 to 1507)
  AUTHORS   Sumi S, Ishikawa T, Ito Y, Oishi H, Asai K and Wada Y.
  TITLE     Probable assignment of the dihydropteridine reductase gene to
            4p15.31
  JOURNAL   Tohoku J Exp Med 160 (1), 93-94 (1990)
   PUBMED   2330583
REFERENCE   8  (bases 1 to 1507)
  AUTHORS   Lockyer,J., Cook,R.G., Milstien,S., Kaufman,S., Woo,S.L. and
            Ledley,F.D.
  TITLE     Structure and expression of human dihydropteridine reductase
  JOURNAL   Proc Natl Acad Sci U S A 84 (10), 3329-3333 (1987)
   PUBMED   3033643
REFERENCE   9  (bases 1 to 1507)
  AUTHORS   Dahl,H.H., Hutchison,W., McAdam,W., Wake,S., Morgan,F.J. and
            Cotton,R.G.
  TITLE     Human dihydropteridine reductase: characterisation of a cDNA clone
            and its use in analysis of patients with dihydropteridine reductase
            deficiency
  JOURNAL   Nucleic Acids Res 15 (5), 1921-1932 (1987)
   PUBMED   3031582
REFERENCE   10  (bases 1 to 1507)
  AUTHORS   Kaufman,S., Holtzman,N.A., Milstien,S., Butler,L.J. and Krumholz,A.
  TITLE     Phenylketonuria due to a deficiency of dihydropteridine reductase
  JOURNAL   N Engl J Med 293 (16), 785-790 (1975)
   PUBMED   1160969
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.736743.1,
            SRR3476690.840895.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2146411
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000281243.10/ ENSP00000281243.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM762805.1, BC000576.2,
            AC093600.3 and AW104747.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000320.2.
            Summary: This gene encodes the enzyme dihydropteridine reductase,
            which catalyzes the NADH-mediated reduction of quinonoid
            dihydrobiopterin.  This enzyme is an essential component of the
            pterin-dependent aromatic amino acid hydroxylating systems.
            Mutations in this gene resulting in QDPR deficiency include
            aberrant splicing, amino acid substitutions, insertions, or
            premature terminations.  Dihydropteridine reductase deficiency
            presents as atypical phenylketonuria due to insufficient production
            of biopterin, a cofactor for phenylalanine hydroxylase. [provided
            by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1507
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p15.32"
     gene            1..1507
                     /gene="QDPR"
                     /gene_synonym="DHPR; HDHPR; PKU2; SDR33C1"
                     /note="quinoid dihydropteridine reductase"
                     /db_xref="GeneID:5860"
                     /db_xref="HGNC:HGNC:9752"
                     /db_xref="MIM:612676"
     CDS             37..771
                     /gene="QDPR"
                     /gene_synonym="DHPR; HDHPR; PKU2; SDR33C1"
                     /EC_number="1.5.1.34"
                     /note="isoform 1 is encoded by transcript variant 1;
                     6,7-dihydropteridine reductase; testis secretory
                     sperm-binding protein Li 236P; short chain
                     dehydrogenase/reductase family 33C member 1"
                     /codon_start=1
                     /product="dihydropteridine reductase isoform 1"
                     /protein_id="NP_000311.2"
                     /db_xref="CCDS:CCDS3421.1"
                     /db_xref="GeneID:5860"
                     /db_xref="HGNC:HGNC:9752"
                     /db_xref="MIM:612676"
                     /translation="MAAAAAAGEARRVLVYGGRGALGSRCVQAFRARNWWVASVDVVEN
                     EEASASIIVKMTDSFTEQADQVTAEVGKLLGEEKVDAILCVAGGWAGGNAKSKSLFKNC
                     DLMWKQSIWTSTISSHLATKHLKEGGLLTLAGAKAALDGTPGMIGYGMAKGAVHQLCQS
                     LAGKNSGMPPGAAAIAVLPVTLDTPMNRKSMPEADFSSWTPLEFLVETFHDWITGKNRP
                     SSGSLIQVVTTEGRTELTPAYF"
     misc_feature    40..42
                     /gene="QDPR"
                     /gene_synonym="DHPR; HDHPR; PKU2; SDR33C1"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.11,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P09417.2); acetylation site"
     regulatory      1347..1352
                     /regulatory_class="polyA_signal_sequence"
                     /gene="QDPR"
                     /gene_synonym="DHPR; HDHPR; PKU2; SDR33C1"
                     /note="hexamer: AATAAA"
     polyA_site      1377
                     /gene="QDPR"
                     /gene_synonym="DHPR; HDHPR; PKU2; SDR33C1"
                     /note="major polyA site"
     regulatory      1486..1491
                     /regulatory_class="polyA_signal_sequence"
                     /gene="QDPR"
                     /gene_synonym="DHPR; HDHPR; PKU2; SDR33C1"
                     /note="hexamer: AATAAA"
     polyA_site      1507
                     /gene="QDPR"
                     /gene_synonym="DHPR; HDHPR; PKU2; SDR33C1"
                     /note="major polyA site"
ORIGIN
        1 attcggagct gcgggagccg ggctggcagg agcaggatgg cggcggcggc ggctgcaggc
       61 gaggcgcgcc gggtgctggt gtacggcggc aggggcgctc tgggttctcg atgcgtgcag
      121 gcttttcggg cccgcaactg gtgggttgcc agcgttgatg tggtggagaa tgaagaggcc
      181 agcgctagca tcattgttaa aatgacagac tcgttcactg agcaggctga ccaggtgact
      241 gctgaggttg gaaagctctt gggtgaagag aaggtggatg caattctttg cgttgctgga
      301 ggatgggccg ggggcaatgc caaatccaag tctctcttta agaactgtga cctgatgtgg
      361 aagcagagca tatggacatc gaccatctcc agccatctgg ctaccaagca tctcaaggaa
      421 ggaggcctcc tgaccttggc tggcgcaaag gctgccctgg atgggactcc tggtatgatc
      481 gggtacggca tggccaaggg tgctgttcac cagctctgcc agagcctggc tgggaagaac
      541 agcggcatgc cgcccggggc agccgccatc gctgtgctcc cggttaccct ggataccccg
      601 atgaacagga aatcaatgcc tgaggctgac ttcagctcct ggacaccctt agaattccta
      661 gttgaaactt tccatgactg gatcacaggg aaaaaccgac cgagctcagg aagcctaatc
      721 caggtggtaa ccacagaagg aaggacggaa ctcaccccag catattttta ggcctcatct
      781 cagtgcctat gaggggcctg ccagaaaagt cactaacctg tctcagtgtg gccttgtcca
      841 gccttgtgtt ttctgtaacc cctgtttgtg gtacgagata atgagtccta tttttctctc
      901 acataatatg catttgctct cctaggacag tgtaatacat ttatgtgaag taaagacatg
      961 cgagactggt ggcctgcaaa tagcatccgt tgatctgtgt taactgcata gggagggctc
     1021 tgcatagcac ctgctatagc ggtgtcatgt tggatcgctt ttgtgactgt tcatctgtcc
     1081 ttgacagtgg ctgtcatctt gactactttg ttgatttgtt ggtattgggg acattttaaa
     1141 ggctgagtta tttttgaatg tcatgtttat gtcatagacg tagttttcgc atccttgaat
     1201 taaactgcct taactccttt tgtggtataa gcaaaactac atggactctg tcctggtatc
     1261 cttttcctgt gtggttgccc cgtgtcctct ggcctagggt taagtgtgca agataactac
     1321 tcgtgagtat tcagaatgtt gttcctaata aatgcacttg ttgtctgtct tctttaatca
     1381 aatcacatct tatatacagc agtcagagat gagtatacta gaatcatgga ttgctggagg
     1441 tcttttaatc tgatgttctc agaagggggt ggatttaaat cctgaaataa atatttcaac
     1501 acaagaa
//
LOCUS       NM_000321               4768 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens RB transcriptional corepressor 1 (RB1), transcript
            variant 1, mRNA.
ACCESSION   NM_000321
VERSION     NM_000321.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4768)
  AUTHORS   Chang YH, Wu KC, Wang KH and Ding DC.
  TITLE     Effects of the Overexpression of Progesterone Receptors on a
            Precancer p53 and Rb-Defective Human Fallopian Tube Epithelial Cell
            Line
  JOURNAL   Int J Mol Sci 24 (14), 11823 (2023)
   PUBMED   37511582
  REMARK    GeneRIF: Effects of the Overexpression of Progesterone Receptors on
            a Precancer p53 and Rb-Defective Human Fallopian Tube Epithelial
            Cell Line. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4768)
  AUTHORS   Ogut B, Bayram EK, Inan MA, Kestel S and Erdem O.
  TITLE     Association of Merkel Cell Polyomavirus Status With p53, RB1, and
            PD-L1 Expression and Patient Prognosis in Merkel Cell Carcinomas:
            Clinical, Morphologic, and Immunohistochemical Evaluation of 17
            Cases
  JOURNAL   Appl Immunohistochem Mol Morphol 31 (6), 371-378 (2023)
   PUBMED   37126387
  REMARK    GeneRIF: Association of Merkel Cell Polyomavirus Status With p53,
            RB1, and PD-L1 Expression and Patient Prognosis in Merkel Cell
            Carcinomas: Clinical, Morphologic, and Immunohistochemical
            Evaluation of 17 Cases.
REFERENCE   3  (bases 1 to 4768)
  AUTHORS   Urbschat S, Breitfelder G, Henia M, Schulz-Schaeffer W, Sippl C,
            Oertel J and Ketter R.
  TITLE     RB1-promoter methylation in glioblastoma: A rare event in
            glioblastoma
  JOURNAL   Oncol Rep 50 (1) (2023)
   PUBMED   37264960
  REMARK    GeneRIF: RB1-promoter methylation in glioblastoma: A rare event in
            glioblastoma.
REFERENCE   4  (bases 1 to 4768)
  AUTHORS   Chia WK, Chia PY, Abdul Aziz NH, Shuib S, Mustangin M, Cheah YK,
            Khong TY, Wong YP and Tan GC.
  TITLE     Diagnostic Utility of TSSC3 and RB1 Immunohistochemistry in
            Hydatidiform Mole
  JOURNAL   Int J Mol Sci 24 (11), 9656 (2023)
   PUBMED   37298606
  REMARK    GeneRIF: Diagnostic Utility of TSSC3 and RB1 Immunohistochemistry in
            Hydatidiform Mole. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4768)
  AUTHORS   Zhang Y, He B, Zhang D, Zhang Y, Chen C, Zhang W, Yang S, Yao M, Cui
            G, Gu J, Wang T, Lin Z, Fan Y, Xiong Z and Hao Y.
  TITLE     FAK-mediated phosphorylation at Y464 regulates p85beta nuclear
            translocation to promote tumorigenesis of ccRCC by repressing RB1
            expression
  JOURNAL   Cell Rep 42 (3), 112188 (2023)
   PUBMED   36857183
  REMARK    GeneRIF: FAK-mediated phosphorylation at Y464 regulates p85beta
            nuclear translocation to promote tumorigenesis of ccRCC by
            repressing RB1 expression.
REFERENCE   6  (bases 1 to 4768)
  AUTHORS   Lohmann,D.R. and Gallie,B.L.
  TITLE     Retinoblastoma
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301625
REFERENCE   7  (bases 1 to 4768)
  AUTHORS   Dyson N, Guida P, Munger K and Harlow E.
  TITLE     Homologous sequences in adenovirus E1A and human papillomavirus E7
            proteins mediate interaction with the same set of cellular proteins
  JOURNAL   J Virol 66 (12), 6893-6902 (1992)
   PUBMED   1331501
REFERENCE   8  (bases 1 to 4768)
  AUTHORS   Huang S, Shin E, Sheppard KA, Chokroverty L, Shan B, Qian YW, Lee EY
            and Yee AS.
  TITLE     The retinoblastoma protein region required for interaction with the
            E2F transcription factor includes the T/E1A binding and
            carboxy-terminal sequences
  JOURNAL   DNA Cell Biol 11 (7), 539-548 (1992)
   PUBMED   1388726
REFERENCE   9  (bases 1 to 4768)
  AUTHORS   Onadim Z, Hogg A, Baird PN and Cowell JK.
  TITLE     Oncogenic point mutations in exon 20 of the RB1 gene in families
            showing incomplete penetrance and mild expression of the
            retinoblastoma phenotype
  JOURNAL   Proc Natl Acad Sci U S A 89 (13), 6177-6181 (1992)
   PUBMED   1352883
REFERENCE   10  (bases 1 to 4768)
  AUTHORS   Hogg A, Onadim Z, Baird PN and Cowell JK.
  TITLE     Detection of heterozygous mutations in the RB1 gene in
            retinoblastoma patients using single-strand conformation
            polymorphism analysis and polymerase chain reaction sequencing
  JOURNAL   Oncogene 7 (7), 1445-1451 (1992)
   PUBMED   1352398
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC040540.1, L41870.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000267163.6/ ENSP00000267163.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL392048.9, BC040540.1 and
            L41870.1.
            On Feb 26, 2020 this sequence version replaced NM_000321.2.
            Summary: The protein encoded by this gene is a negative regulator
            of the cell cycle and was the first tumor suppressor gene found.
            The encoded protein also stabilizes constitutive heterochromatin to
            maintain the overall chromatin structure. The active,
            hypophosphorylated form of the protein binds transcription factor
            E2F1. Defects in this gene are a cause of childhood cancer
            retinoblastoma (RB), bladder cancer, and osteogenic sarcoma.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4768
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.2"
     gene            1..4768
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="RB transcriptional corepressor 1"
                     /db_xref="GeneID:5925"
                     /db_xref="HGNC:HGNC:9884"
                     /db_xref="MIM:614041"
     misc_feature    61..63
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="upstream in-frame stop codon"
     CDS             163..2949
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="isoform 1 is encoded by transcript variant 1;
                     retinoblastoma-associated protein;
                     prepro-retinoblastoma-associated protein; protein
                     phosphatase 1, regulatory subunit 130; retinoblastoma
                     suspectibility protein; retinoblastoma 1"
                     /codon_start=1
                     /product="retinoblastoma-associated protein isoform 1"
                     /protein_id="NP_000312.2"
                     /db_xref="CCDS:CCDS31973.1"
                     /db_xref="GeneID:5925"
                     /db_xref="HGNC:HGNC:9884"
                     /db_xref="MIM:614041"
                     /translation="MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLV
                     RLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEKVSSVDGVLGGYIQKKKELWGICIF
                     IAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFALFS
                     KLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCV
                     LDYFIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEH
                     ECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHD
                     KTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSEN
                     LISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVME
                     SMLKSEEERLSIQNFSKLLNDNIFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWI
                     LNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMESLAWLSDSPLFDLIKQS
                     KDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQATSA
                     FQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYEL
                     MRDRHLDQIMMCSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSII
                     VFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIPGGNIYISPLKSP
                     YKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKP
                     LKKLRFDIEGSDEADGSKHLPGESKFQQKLAEMTSTRTRMQKQKMNDSMDTSNKEEK"
     misc_feature    163..288
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="propagated from UniProtKB/Swiss-Prot (P06400.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    166..168
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="N,N-dimethylproline.
                     /evidence=ECO:0000250|UniProtKB:P13405; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); methylation site"
     misc_feature    271..273
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P06400.2);
                     phosphorylation site"
     misc_feature    907..909
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:1756735,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); phosphorylation site"
     misc_feature    916..918
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphothreonine, by CDK1.
                     /evidence=ECO:0000269|PubMed:1756735,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); phosphorylation site"
     misc_feature    1228..1230
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); phosphorylation site"
     misc_feature    1279..2475
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="propagated from UniProtKB/Swiss-Prot (P06400.2);
                     Region: Pocket, binds T and E1A"
     misc_feature    1279..1899
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="propagated from UniProtKB/Swiss-Prot (P06400.2);
                     Region: Domain A"
     misc_feature    1279..1281
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphothreonine, by CDK1.
                     /evidence=ECO:0000269|PubMed:1756735,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P06400.2);
                     phosphorylation site"
     misc_feature    1861..1863
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphoserine, by CDK2.
                     /evidence=ECO:0000269|PubMed:10499802; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); phosphorylation site"
     misc_feature    1900..2079
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="propagated from UniProtKB/Swiss-Prot (P06400.2);
                     Region: Spacer"
     misc_feature    1984..1986
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P13405; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); phosphorylation site"
     misc_feature    1990..2058
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="propagated from UniProtKB/Swiss-Prot (P06400.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1996..1998
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphoserine, by CHEK2 and CHEK1.
                     /evidence=ECO:0000269|PubMed:17380128,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); phosphorylation site"
     misc_feature    2032..2034
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); phosphorylation site"
     misc_feature    2080..2475
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="propagated from UniProtKB/Swiss-Prot (P06400.2);
                     Region: Domain B"
     misc_feature    2449..2946
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="propagated from UniProtKB/Swiss-Prot (P06400.2);
                     Region: Interaction with LIMD1.
                     /evidence=ECO:0000269|PubMed:15542589"
     misc_feature    2473..2946
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="propagated from UniProtKB/Swiss-Prot (P06400.2);
                     Region: Domain C, mediates interaction with E4F1.
                     /evidence=ECO:0000269|PubMed:10869426"
     misc_feature    2500..2502
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); phosphorylation site"
     misc_feature    2524..2526
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); phosphorylation site"
     misc_feature    2545..2547
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); phosphorylation site"
     misc_feature    2581..2583
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphoserine, by CDK1 and CDK3.
                     /evidence=ECO:0000269|PubMed:15084261,
                     ECO:0000269|PubMed:1756735, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P06400.2);
                     phosphorylation site"
     misc_feature    2590..2592
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="N6-methyllysine, by SMYD2.
                     /evidence=ECO:0000269|PubMed:22787429; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); methylation site"
     misc_feature    2593..2595
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphoserine, by CDK1 and CDK3.
                     /evidence=ECO:0000269|PubMed:15084261,
                     ECO:0000269|PubMed:1756735, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); phosphorylation site"
     misc_feature    2623..2625
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphothreonine, by CDK6.
                     /evidence=ECO:0000269|PubMed:15809340,
                     ECO:0000269|PubMed:16360038, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); phosphorylation site"
     misc_feature    2629..2631
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); phosphorylation site"
     misc_feature    2638..2640
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphothreonine, by CDK4.
                     /evidence=ECO:0000269|PubMed:15809340,
                     ECO:0000269|PubMed:16360038, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P06400.2);
                     phosphorylation site"
     misc_feature    2683..2685
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); phosphorylation site"
     misc_feature    2725..2727
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); phosphorylation site"
     misc_feature    2740..2946
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="propagated from UniProtKB/Swiss-Prot (P06400.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2740..2790
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="propagated from UniProtKB/Swiss-Prot (P06400.2);
                     Region: Bipartite nuclear localization signal.
                     /evidence=ECO:0000250|UniProtKB:P13405"
     misc_feature    2740..2742
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="N6-methyllysine, by SMYD2.
                     /evidence=ECO:0000269|PubMed:20870719; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); methylation site"
     misc_feature    2779..2781
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="N6-acetyllysine, by PCAF.
                     /evidence=ECO:0000269|PubMed:20940255; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); acetylation site"
     misc_feature    2782..2784
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="N6-acetyllysine, by PCAF.
                     /evidence=ECO:0000269|PubMed:20940255; propagated from
                     UniProtKB/Swiss-Prot (P06400.2); acetylation site"
     regulatory      4743..4748
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="hexamer: AATAAA"
     polyA_site      4768
                     /gene="RB1"
                     /gene_synonym="OSRC; p105-Rb; p110-RB1; pp110; PPP1R130;
                     pRb; RB"
                     /note="major polyA site"
ORIGIN
        1 agttgccggg cgggggaggg cgcgtccggt ttttctcagg ggacgttgaa attatttttg
       61 taacgggagt cgggagagga cggggcgtgc cccgacgtgc gcgcgcgtcg tcctccccgg
      121 cgctcctcca cagctcgctg gctcccgccg cggaaaggcg tcatgccgcc caaaaccccc
      181 cgaaaaacgg ccgccaccgc cgccgctgcc gccgcggaac ccccggcacc gccgccgccg
      241 ccccctcctg aggaggaccc agagcaggac agcggcccgg aggacctgcc tctcgtcagg
      301 cttgagtttg aagaaacaga agaacctgat tttactgcat tatgtcagaa attaaagata
      361 ccagatcatg tcagagagag agcttggtta acttgggaga aagtttcatc tgtggatgga
      421 gtattgggag gttatattca aaagaaaaag gaactgtggg gaatctgtat ctttattgca
      481 gcagttgacc tagatgagat gtcgttcact tttactgagc tacagaaaaa catagaaatc
      541 agtgtccata aattctttaa cttactaaaa gaaattgata ccagtaccaa agttgataat
      601 gctatgtcaa gactgttgaa gaagtatgat gtattgtttg cactcttcag caaattggaa
      661 aggacatgtg aacttatata tttgacacaa cccagcagtt cgatatctac tgaaataaat
      721 tctgcattgg tgctaaaagt ttcttggatc acatttttat tagctaaagg ggaagtatta
      781 caaatggaag atgatctggt gatttcattt cagttaatgc tatgtgtcct tgactatttt
      841 attaaactct cacctcccat gttgctcaaa gaaccatata aaacagctgt tatacccatt
      901 aatggttcac ctcgaacacc caggcgaggt cagaacagga gtgcacggat agcaaaacaa
      961 ctagaaaatg atacaagaat tattgaagtt ctctgtaaag aacatgaatg taatatagat
     1021 gaggtgaaaa atgtttattt caaaaatttt atacctttta tgaattctct tggacttgta
     1081 acatctaatg gacttccaga ggttgaaaat ctttctaaac gatacgaaga aatttatctt
     1141 aaaaataaag atctagatgc aagattattt ttggatcatg ataaaactct tcagactgat
     1201 tctatagaca gttttgaaac acagagaaca ccacgaaaaa gtaaccttga tgaagaggtg
     1261 aatgtaattc ctccacacac tccagttagg actgttatga acactatcca acaattaatg
     1321 atgattttaa attcagcaag tgatcaacct tcagaaaatc tgatttccta ttttaacaac
     1381 tgcacagtga atccaaaaga aagtatactg aaaagagtga aggatatagg atacatcttt
     1441 aaagagaaat ttgctaaagc tgtgggacag ggttgtgtcg aaattggatc acagcgatac
     1501 aaacttggag ttcgcttgta ttaccgagta atggaatcca tgcttaaatc agaagaagaa
     1561 cgattatcca ttcaaaattt tagcaaactt ctgaatgaca acatttttca tatgtcttta
     1621 ttggcgtgcg ctcttgaggt tgtaatggcc acatatagca gaagtacatc tcagaatctt
     1681 gattctggaa cagatttgtc tttcccatgg attctgaatg tgcttaattt aaaagccttt
     1741 gatttttaca aagtgatcga aagttttatc aaagcagaag gcaacttgac aagagaaatg
     1801 ataaaacatt tagaacgatg tgaacatcga atcatggaat cccttgcatg gctctcagat
     1861 tcacctttat ttgatcttat taaacaatca aaggaccgag aaggaccaac tgatcacctt
     1921 gaatctgctt gtcctcttaa tcttcctctc cagaataatc acactgcagc agatatgtat
     1981 ctttctcctg taagatctcc aaagaaaaaa ggttcaacta cgcgtgtaaa ttctactgca
     2041 aatgcagaga cacaagcaac ctcagccttc cagacccaga agccattgaa atctacctct
     2101 ctttcactgt tttataaaaa agtgtatcgg ctagcctatc tccggctaaa tacactttgt
     2161 gaacgccttc tgtctgagca cccagaatta gaacatatca tctggaccct tttccagcac
     2221 accctgcaga atgagtatga actcatgaga gacaggcatt tggaccaaat tatgatgtgt
     2281 tccatgtatg gcatatgcaa agtgaagaat atagacctta aattcaaaat cattgtaaca
     2341 gcatacaagg atcttcctca tgctgttcag gagacattca aacgtgtttt gatcaaagaa
     2401 gaggagtatg attctattat agtattctat aactcggtct tcatgcagag actgaaaaca
     2461 aatattttgc agtatgcttc caccaggccc cctaccttgt caccaatacc tcacattcct
     2521 cgaagccctt acaagtttcc tagttcaccc ttacggattc ctggagggaa catctatatt
     2581 tcacccctga agagtccata taaaatttca gaaggtctgc caacaccaac aaaaatgact
     2641 ccaagatcaa gaatcttagt atcaattggt gaatcattcg ggacttctga gaagttccag
     2701 aaaataaatc agatggtatg taacagcgac cgtgtgctca aaagaagtgc tgaaggaagc
     2761 aaccctccta aaccactgaa aaaactacgc tttgatattg aaggatcaga tgaagcagat
     2821 ggaagtaaac atctcccagg agagtccaaa tttcagcaga aactggcaga aatgacttct
     2881 actcgaacac gaatgcaaaa gcagaaaatg aatgatagca tggatacctc aaacaaggaa
     2941 gagaaatgag gatctcagga ccttggtgga cactgtgtac acctctggat tcattgtctc
     3001 tcacagatgt gactgtataa ctttcccagg ttctgtttat ggccacattt aatatcttca
     3061 gctctttttg tggatataaa atgtgcagat gcaattgttt gggtgattcc taagccactt
     3121 gaaatgttag tcattgttat ttatacaaga ttgaaaatct tgtgtaaatc ctgccattta
     3181 aaaagttgta gcagattgtt tcctcttcca aagtaaaatt gctgtgcttt atggatagta
     3241 agaatggccc tagagtggga gtcctgataa cccaggcctg tctgactact ttgccttctt
     3301 ttgtagcata taggtgatgt ttgctcttgt ttttattaat ttatatgtat atttttttaa
     3361 tttaacatga acacccttag aaaatgtgtc ctatctatct tccaaatgca atttgattga
     3421 ctgcccattc accaaaatta tcctgaactc ttctgcaaaa atggatatta ttagaaatta
     3481 gaaaaaaatt actaatttta cacattagat tttattttac tattggaatc tgatatactg
     3541 tgtgcttgtt ttataaaatt ttgcttttaa ttaaataaaa gctggaagca aagtataacc
     3601 atatgatact atcatactac tgaaacagat ttcatacctc agaatgtaaa agaacttact
     3661 gattattttc ttcatccaac ttatgttttt aaatgaggat tattgatagt actcttggtt
     3721 tttataccat tcagatcact gaatttataa agtacccatc tagtacttga aaaagtaaag
     3781 tgttctgcca gatcttaggt atagaggacc ctaacacagt atatcccaag tgcactttct
     3841 aatgtttctg ggtcctgaag aattaagata caaattaatt ttactccata aacagactgt
     3901 taattatagg agccttaatt tttttttcat agagatttgt ctaattgcat ctcaaaatta
     3961 ttctgccctc cttaatttgg gaaggtttgt gttttctctg gaatggtaca tgtcttccat
     4021 gtatcttttg aactggcaat tgtctattta tcttttattt ttttaagtca gtatggtcta
     4081 acactggcat gttcaaagcc acattatttc tagtccaaaa ttacaagtaa tcaagggtca
     4141 ttatgggtta ggcattaatg tttctatctg attttgtgca aaagcttcaa attaaaacag
     4201 ctgcattaga aaaagaggcg cttctcccct cccctacacc taaaggtgta tttaaactat
     4261 cttgtgtgat taacttattt agagatgctg taacttaaaa taggggatat ttaaggtagc
     4321 ttcagctagc ttttaggaaa atcactttgt ctaactcaga attattttta aaaagaaatc
     4381 tggtcttgtt agaaaacaaa attttatttt gtgctcattt aagtttcaaa cttactattt
     4441 tgacagttat tttgataaca atgacactag aaaacttgac tccatttcat cattgtttct
     4501 gcatgaatat catacaaatc agttagtttt taggtcaagg gcttactatt tctgggtctt
     4561 ttgctactaa gttcacatta gaattagtgc cagaatttta ggaacttcag agatcgtgta
     4621 ttgagatttc ttaaataatg cttcagatat tattgcttta ttgctttttt gtattggtta
     4681 aaactgtaca tttaaaattg ctatgttact attttctaca attaatagtt tgtctatttt
     4741 aaaataaatt agttgttaag agtcttaa
//
LOCUS       NM_000322               3001 bp    mRNA    linear   PRI 05-JUL-2023
DEFINITION  Homo sapiens peripherin 2 (PRPH2), mRNA.
ACCESSION   NM_000322
VERSION     NM_000322.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3001)
  AUTHORS   Bianco L, Arrigo A, Antropoli A, Saladino A, Spiga I, Patricelli MG,
            Bandello F, Carrera P and Battaglia Parodi M.
  TITLE     PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype
            Correlations
  JOURNAL   Ophthalmol Retina 7 (5), 450-461 (2023)
   PUBMED   36563963
  REMARK    GeneRIF: PRPH2-Associated Retinopathy: Novel Variants and
            Genotype-Phenotype Correlations.
REFERENCE   2  (bases 1 to 3001)
  AUTHORS   Wang Y, Wang J, Jiang Y, Zhu D, Ouyang J, Yi Z, Li S, Jia X, Xiao X,
            Sun W, Wang P and Zhang Q.
  TITLE     New Insight into the Genotype-Phenotype Correlation of PRPH2-Related
            Diseases Based on a Large Chinese Cohort and Literature Review
  JOURNAL   Int J Mol Sci 24 (7), 6728 (2023)
   PUBMED   37047703
  REMARK    GeneRIF: New Insight into the Genotype-Phenotype Correlation of
            PRPH2-Related Diseases Based on a Large Chinese Cohort and
            Literature Review. Review article Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3001)
  AUTHORS   Sanlialp A, Escher P, Schaller A and Todorova M.
  TITLE     Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous
            PRPH2 Pathogenic Variant
  JOURNAL   Klin Monbl Augenheilkd 240 (4), 536-543 (2023)
   PUBMED   37164409
  REMARK    GeneRIF: Clinical Heterogeneity in Two Siblings Harbouring a
            Heterozygous PRPH2 Pathogenic Variant.
REFERENCE   4  (bases 1 to 3001)
  AUTHORS   Xiao X, Ling F, Chen CB, Liang J, Cao Y, Xu Y and Chen H.
  TITLE     PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and
            co-localization
  JOURNAL   Biochem Biophys Res Commun 629, 12-16 (2022)
   PUBMED   36088804
  REMARK    GeneRIF: PRPF31 interacts with PRPH2 confirmed by
            co-immunoprecipitation and co-localization.
REFERENCE   5  (bases 1 to 3001)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   30285347
REFERENCE   6  (bases 1 to 3001)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
REFERENCE   7  (bases 1 to 3001)
  AUTHORS   Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp
            EM, Sheils D and Humphries P.
  TITLE     Autosomal dominant retinitis pigmentosa: a novel mutation at the
            peripherin/RDS locus in the original 6p-linked pedigree
  JOURNAL   Genomics 14 (3), 805-807 (1992)
   PUBMED   1427912
  REMARK    Erratum:[Genomics 1993 Feb;15(2):466]
REFERENCE   8  (bases 1 to 3001)
  AUTHORS   Jordan SA, Farrar GJ, Kumar-Singh R, Kenna P, Humphries MM, Allamand
            V, Sharp EM and Humphries P.
  TITLE     Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation
            of RP6 and the peripherin-RDS locus in a late-onset family of Irish
            origin
  JOURNAL   Am J Hum Genet 50 (3), 634-639 (1992)
   PUBMED   1539599
REFERENCE   9  (bases 1 to 3001)
  AUTHORS   Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL and Dryja TP.
  TITLE     Mutations in the human retinal degeneration slow gene in autosomal
            dominant retinitis pigmentosa
  JOURNAL   Nature 354 (6353), 480-483 (1991)
   PUBMED   1684223
REFERENCE   10  (bases 1 to 3001)
  AUTHORS   Travis GH, Christerson L, Danielson PE, Klisak I, Sparkes RS, Hahn
            LB, Dryja TP and Sutcliffe JG.
  TITLE     The human retinal degeneration slow (RDS) gene: chromosome
            assignment and structure of the mRNA
  JOURNAL   Genomics 10 (3), 733-739 (1991)
   PUBMED   1679750
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.105378.1,
            SRR1803614.121211.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000230381.7/ ENSP00000230381.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049843.18 and BC074720.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000322.4.
            Summary: The protein encoded by this gene is a member of the
            transmembrane 4 superfamily, also known as the tetraspanin family.
            Most of these members are cell-surface proteins that are
            characterized by the presence of four hydrophobic domains. The
            proteins mediate signal transduction events that play a role in the
            regulation of cell development, activation, growth and motility.
            This encoded protein is a cell surface glycoprotein found in the
            outer segment of both rod and cone photoreceptor cells. It may
            function as an adhesion molecule involved in stabilization and
            compaction of outer segment disks or in the maintenance of the
            curvature of the rim. This protein is essential for disk
            morphogenesis. Defects in this gene are associated with both
            central and peripheral retinal degenerations. Some of the various
            phenotypically different disorders are autosomal dominant retinitis
            pigmentosa, progressive macular degeneration, macular dystrophy and
            retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3001
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..3001
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /note="peripherin 2"
                     /db_xref="GeneID:5961"
                     /db_xref="HGNC:HGNC:9942"
                     /db_xref="MIM:179605"
     misc_feature    207..209
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /note="upstream in-frame stop codon"
     CDS             264..1304
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /note="retinal peripherin; peripherin, photoreceptor type;
                     peripherin 2, homolog of mouse; tetraspanin-22; tspan-22;
                     retinal degeneration slow protein; peripherin 2 (retinal
                     degeneration, slow); choroidal dystrophy, central areolar
                     2"
                     /codon_start=1
                     /product="peripherin-2"
                     /protein_id="NP_000313.2"
                     /db_xref="CCDS:CCDS4871.1"
                     /db_xref="GeneID:5961"
                     /db_xref="HGNC:HGNC:9942"
                     /db_xref="MIM:179605"
                     /translation="MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIEL
                     RKRSDVMNNSESHFVPNSLIGMGVLSCVFNSLAGKICYDALDPAKYARWKPWLKPYLAI
                     CVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQIEF
                     KCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPC
                     IQYQITNNSAHYSYDHQTEELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITI
                     GLRYLQTSLDGVSNPEESESESQGWLLERSVPETWKAFLESVKKLGKGNQVEAEGADAG
                     QAPEAG"
     misc_feature    336..392
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /note="propagated from UniProtKB/Swiss-Prot (P23942.2);
                     transmembrane region"
     misc_feature    420..422
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23942.2); glycosylation site"
     misc_feature    447..503
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /note="propagated from UniProtKB/Swiss-Prot (P23942.2);
                     transmembrane region"
     misc_feature    561..632
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /note="propagated from UniProtKB/Swiss-Prot (P23942.2);
                     transmembrane region"
     misc_feature    948..950
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23942.2); glycosylation site"
     misc_feature    1056..1133
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /note="propagated from UniProtKB/Swiss-Prot (P23942.2);
                     transmembrane region"
     misc_feature    1284..1301
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /note="propagated from UniProtKB/Swiss-Prot (P23942.2);
                     Region: Interaction with MREG. /evidence=ECO:0000250"
     regulatory      2978..2983
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /note="hexamer: ATTAAA"
     polyA_site      3001
                     /gene="PRPH2"
                     /gene_synonym="AOFMD; AVMD; CACD2; DS; MDBS1; PRPH; rd2;
                     RDS; RP7; TSPAN22"
                     /note="major polyA site"
ORIGIN
        1 ggctgggaag ggcgctgaag aaacaacgcc caggaccagg actatcccct gctcaagctg
       61 tgattccgag acccctgcca ccactactgc attcacgggg atcccaggct agtgggactc
      121 gacatgggta gcccccaggg cagctcccta cagcttgggc catctgcact tttcccaagg
      181 ccctaagtct ccgcctctgg gctcgttaag gtttggggtg ggagctgtgc tgtgggaagc
      241 aacccggact acacttggca agcatggcgc tactgaaagt caagtttgac cagaagaagc
      301 gggtcaagtt ggcccaaggg ctctggctca tgaactggtt ctccgtgttg gctggcatca
      361 tcatcttcag cctaggactg ttcctgaaga ttgaactccg aaagaggagc gatgtgatga
      421 ataattctga gagccatttt gtgcccaact cattgatagg gatgggggtg ctatcctgtg
      481 tcttcaactc gctggctggg aagatctgct acgacgccct ggacccagcc aagtatgcca
      541 gatggaagcc ctggctgaag ccgtacctgg ctatctgtgt tctcttcaac atcatcctct
      601 tccttgtggc tctctgctgc tttctgcttc ggggctcgct ggagaacacc ctgggccaag
      661 ggctcaagaa cggcatgaag tactaccggg acacagacac ccctggcagg tgtttcatga
      721 agaagaccat cgacatgctg cagatcgagt tcaaatgctg cggcaacaac ggttttcggg
      781 actggtttga gattcagtgg atcagcaatc gctacctgga cttttcctcc aaagaagtca
      841 aagatcgaat caagagcaac gtggatgggc ggtacctggt ggacggcgtc cctttcagct
      901 gctgcaatcc tagctcgcca cggccctgca tccagtatca gatcaccaac aactcagcac
      961 actacagtta cgaccaccag acggaggagc tcaacctgtg ggtgcgtggc tgcagggctg
     1021 ccctgctgag ctactacagc agcctcatga actccatggg tgtcgtcacg ctcctcattt
     1081 ggctcttcga ggtgaccatt acaattgggc tgcgctacct acagacgtcg ctggatggtg
     1141 tgtccaaccc cgaggaatct gagagcgaga gccagggctg gctgctggag aggagcgtgc
     1201 cggagacctg gaaggccttt ctggagagtg tgaagaagct gggcaagggc aaccaggtgg
     1261 aagccgaggg cgcagacgca ggccaggccc cagaggctgg ctgagggccc tggggcccct
     1321 cccctcccga acactgagaa atagtgcact ccaagaaacg tggatctccc cctcatccaa
     1381 ctccgaaagt ctgaatctcc caaggagggc accatcttac agagactctc cctgacggtg
     1441 gaatttaagt ttagggtccc taaaagcatt tgacacacag ttgttgaatg actgacccaa
     1501 aatgtgaatg aagctaatgt gaatgtgagt gaagctccct tcaggcccgc tgccctagga
     1561 tatgccctcc tggtgactcg ggggctgtct cagacgacta gcccaggacc catctttctc
     1621 acacggattt agtcccaccc tatggccact ggccgtatct gagggctgct ccccttttag
     1681 aatttacctc ttatgagctc catgttgctt cactctatcc aaagtgtcac ttggtgcata
     1741 agcacagaaa tctgaaaaat ggccatgttg tctttttttt ttttttttaa tgccaagatt
     1801 gacaggttgg ccgtttgctt aatgccagaa gttgggggaa agttacgctt ttctaagaat
     1861 aatggactct taaggcattg agggctctaa acaggattct ttaatcatgg agcaagagaa
     1921 tttcaaggca ggggatttta tcccccacca aaaacacagt gaaaggcctg cttttgtgtc
     1981 ccattcacat gccctcggtc actgagtctg gagtgaacca cgggttgagg aagtcaggct
     2041 gttggcgtgt cccagcacca caccacccct aaagtgccag gtgatctcct gtggctcatc
     2101 ggtggaagca gtggggtagg ctgctgccct gctgtggaag aggagcaaca atcagacatg
     2161 agtccaccct ttggagacca ggcctcagct cttggtgggc ccagggacac ccacacaggt
     2221 ggccatcaca gccccatgga caacactaat tgtccacagc aaagggcaag gaatcctctg
     2281 ggagcttctt ccgtttcttc cccccagata cccatcttga aaaacactat ttctggaatg
     2341 cttctgcatc aaaggagatt ctttgagata gcccatcttc ctgagctagc aaatacagga
     2401 gttttcactt tctttaggaa agagaagctt tcaggggaag gagagaatga ttttgctgac
     2461 ttcccaagcc ctggtgacca gaccaaggca gggcccagca taattcctcc agttggatga
     2521 acattcaaga gagctcgttc ctacctggct ggagaccgag gccagaaggc aaaaaccaga
     2581 aagggaacag tccataactt acctctgctt ctgaccgatg gtgtttggga ataggttact
     2641 ttggactgag tttgggttct ctgctgtcct aagaacttca gtgtagagaa aataagactt
     2701 ctggtgctgc tggggtatgt tctgggctta attcccccaa gcagaagacc agatccaaga
     2761 tgtttggaca ccctgtcaga cgttggtccc aagtttaatt agatttctga atctcgttga
     2821 ggccaaggaa tgatccatac tgaaaaaatg ctgagccagc catctttggc aaaggtccct
     2881 gagctcttgc tatctctcaa gagtgctgag aaccacggtg aaagtgctgc tctaggccca
     2941 caagtgtaac tatgctgtta acagctgtca atagataatt aaaattcata ctgtatgaaa
     3001 a
//
LOCUS       NM_000324               1895 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens Rh associated glycoprotein (RHAG), mRNA.
ACCESSION   NM_000324
VERSION     NM_000324.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1895)
  AUTHORS   Vallese F, Kim K, Yen LY, Johnston JD, Noble AJ, Cali T and Clarke
            OB.
  TITLE     Architecture of the human erythrocyte ankyrin-1 complex
  JOURNAL   Nat Struct Mol Biol 29 (7), 706-718 (2022)
   PUBMED   35835865
REFERENCE   2  (bases 1 to 1895)
  AUTHORS   Tanaka M, Abe T, Minamitani T, Akiba H, Horikawa T, Tobita R, Isa K,
            Ogasawara K, Takahashi H, Tateyama H, Tone S, Tsumoto K, Yasui T,
            Kimura T, Fujimura Y, Hirayama F, Tani Y and Takihara Y.
  TITLE     The Kg-antigen, RhAG with a Lys164Gln mutation, gives rise to
            haemolytic disease of the newborn
  JOURNAL   Br J Haematol 191 (5), 920-926 (2020)
   PUBMED   32705675
  REMARK    GeneRIF: The Kg-antigen, RhAG with a Lys164Gln mutation, gives rise
            to haemolytic disease of the newborn.
REFERENCE   3  (bases 1 to 1895)
  AUTHORS   Mufarrege N, Franco N, Trucco Boggione C, Arnoni C, de Paula
            Vendrame T, Bartoli S, Ensinck A, Principi C, Lujan Brajovich M,
            Mattaloni S, Riquelme B, Biondi C, Castilho L and Cotorruelo C.
  TITLE     Extensive clinical, serologic and molecular studies lead to the
            first reported Rhmod phenotype in Argentina
  JOURNAL   Transfusion 60 (7), 1373-1377 (2020)
   PUBMED   32378229
  REMARK    GeneRIF: Extensive clinical, serologic and molecular studies lead to
            the first reported Rhmod phenotype in Argentina.
REFERENCE   4  (bases 1 to 1895)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1895)
  AUTHORS   Xia RW, Xun CZ, Xiang D, Zhang JM, Yang QX, Zhao FY, Wang C, Zhu ZY,
            Li Q and Ye LY.
  TITLE     A novel double-variant RHAG allele leads to Rhmod phenotype
  JOURNAL   Transfus Med 29 (6), 460-465 (2019)
   PUBMED   31032541
  REMARK    GeneRIF: identified the second double-variant RHAG allele and the
            first one related to Rhmod phenotype. The novel allele was also
            confirmed to be heritable by family analyses.
REFERENCE   6  (bases 1 to 1895)
  AUTHORS   Hyland CA, Cherif-Zahar B, Cowley N, Raynal V, Parkes J, Saul A and
            Cartron JP.
  TITLE     A novel single missense mutation identified along the RH50 gene in a
            composite heterozygous Rhnull blood donor of the regulator type
  JOURNAL   Blood 91 (4), 1458-1463 (1998)
   PUBMED   9454778
REFERENCE   7  (bases 1 to 1895)
  AUTHORS   Huang CH.
  TITLE     The human Rh50 glycoprotein gene. Structural organization and
            associated splicing defect resulting in Rh(null) disease
  JOURNAL   J Biol Chem 273 (4), 2207-2213 (1998)
   PUBMED   9442063
REFERENCE   8  (bases 1 to 1895)
  AUTHORS   Cherif-Zahar B, Raynal V, Gane P, Mattei MG, Bailly P, Gibbs B,
            Colin Y and Cartron JP.
  TITLE     Candidate gene acting as a suppressor of the RH locus in most cases
            of Rh-deficiency
  JOURNAL   Nat Genet 12 (2), 168-173 (1996)
   PUBMED   8563755
REFERENCE   9  (bases 1 to 1895)
  AUTHORS   Ridgwell K, Spurr NK, Laguda B, MacGeoch C, Avent ND and Tanner MJ.
  TITLE     Isolation of cDNA clones for a 50 kDa glycoprotein of the human
            erythrocyte membrane associated with Rh (rhesus) blood-group antigen
            expression
  JOURNAL   Biochem J 287 (Pt 1) (Pt 1), 223-228 (1992)
   PUBMED   1417776
REFERENCE   10  (bases 1 to 1895)
  AUTHORS   Avent ND, Ridgwell K, Mawby WJ, Tanner MJ, Anstee DJ and Kumpel B.
  TITLE     Protein-sequence studies on Rh-related polypeptides suggest the
            presence of at least two groups of proteins which associate in the
            human red-cell membrane
  JOURNAL   Biochem J 256 (3), 1043-1046 (1988)
   PUBMED   3146980
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X64594.1, BC012605.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2149004,
            SAMEA2163105 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371175.10/ ENSP00000360217.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X64594.1 and BC012605.1.
            On Aug 31, 2019 this sequence version replaced NM_000324.2.
            Summary: The protein encoded by this gene is erythrocyte-specific
            and is thought to be part of a membrane channel that transports
            ammonium and carbon dioxide across the blood cell membrane. The
            encoded protein appears to interact with Rh blood group antigens
            and Rh30 polypeptides. Defects in this gene are a cause of
            regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency
            syndrome.[provided by RefSeq, Mar 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1895
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.3"
     gene            1..1895
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="Rh associated glycoprotein"
                     /db_xref="GeneID:6005"
                     /db_xref="HGNC:HGNC:10006"
                     /db_xref="MIM:180297"
     CDS             28..1257
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="Rhesus blood group-associated glycoprotein; Rhesus
                     associated polypeptide, 50-KD; Rh 50 glycoprotein;
                     erythrocyte membrane glycoprotein Rh50; rh type A
                     glycoprotein; rh family type A glycoprotein; rhesus blood
                     group family type A glycoprotein; rhesus blood
                     group-associated ammonia channel; erythrocyte plasma
                     membrane 50 kDa glycoprotein; mutant Rh associated
                     glycoprotein"
                     /codon_start=1
                     /product="ammonium transporter Rh type A"
                     /protein_id="NP_000315.2"
                     /db_xref="CCDS:CCDS4927.1"
                     /db_xref="GeneID:6005"
                     /db_xref="HGNC:HGNC:10006"
                     /db_xref="MIM:180297"
                     /translation="MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMG
                     IFFELYPLFQDVHVMIFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQ
                     GQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVSEIF
                     KASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFW
                     PSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGV
                     AVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVV
                     GGLAGIVAVAMGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDD
                     SVYWKVPKTR"
     misc_feature    34..96
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02094.2);
                     transmembrane region"
     misc_feature    136..138
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q02094.2); glycosylation site"
     misc_feature    181..243
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02094.2);
                     transmembrane region"
     misc_feature    265..327
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02094.2);
                     transmembrane region"
     misc_feature    367..429
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02094.2);
                     transmembrane region"
     misc_feature    454..516
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02094.2);
                     transmembrane region"
     misc_feature    529..591
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02094.2);
                     transmembrane region"
     misc_feature    652..714
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02094.2);
                     transmembrane region"
     misc_feature    745..807
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02094.2);
                     transmembrane region"
     misc_feature    832..900
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02094.2);
                     transmembrane region"
     misc_feature    913..981
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02094.2);
                     transmembrane region"
     misc_feature    1024..1086
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02094.2);
                     transmembrane region"
     misc_feature    1090..1092
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q02094.2); glycosylation site"
     misc_feature    1114..1176
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02094.2);
                     transmembrane region"
     misc_feature    136..138
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /standard_name="glycosylation site"
     misc_feature    307..309
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /standard_name="glycosylation site"
     misc_feature    390..392
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /standard_name="glycosylation site"
     regulatory      1889..1894
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="hexamer: AATAAA"
     polyA_site      1895
                     /gene="RHAG"
                     /gene_synonym="CD241; OHS; OHST; RH2; Rh50; RH50A; Rh50GP;
                     RHNR; SLC42A1"
                     /note="major polyA site"
ORIGIN
        1 agtgtgcctc tgtcctttgc cacaaacatg aggttcacat tccctctcat ggctatagtc
       61 ctggaaattg ccatgattgt tttatttgga ttatttgttg agtatgaaac ggaccagact
      121 gttctcgagc agctcaacat caccaagcca acagacatgg gcatattctt tgagttatat
      181 cctctgttcc aagatgtaca tgttatgata tttgttgggt ttggcttcct catgaccttc
      241 ctgaagaaat atggcttcag cagtgtgggt atcaacctac tcgttgctgc tttgggcctc
      301 cagtggggca ctattgtaca gggaatcctg caaagccagg gacagaaatt taacattgga
      361 atcaaaaaca tgataaatgc agacttcagt gcagccacag ttctgatatc ttttggagct
      421 gtcctgggaa aaacgagccc cacccaaatg ctgatcatga caattttaga aattgttttc
      481 tttgcccaca atgaatacct ggttagtgaa atatttaagg cctctgacat tggagcatca
      541 atgacgatcc atgcctttgg ggcctacttt ggcttggctg tagcaggcat cttgtatcga
      601 tctggactga gaaaggggca tgaaaatgaa gagtccgcat actactcaga cttgtttgca
      661 atgattggga ctctctttct gtggatgttt tggcccagct ttaactcggc cattgctgaa
      721 cctggagaca aacagtgcag ggccattgta aacacgtact tctctctcgc tgcctgtgtg
      781 ctcacagcct ttgccttctc cagcctagtg gagcaccgag gcaagctcaa catggttcac
      841 attcagaatg ccacccttgc tggaggagtt gctgtgggca cttgtgcgga tatggcaatt
      901 cacccatttg gttctatgat tattgggagc attgcaggaa tggtctctgt gcttggatac
      961 aagttcctga ctccactttt tactactaaa ctgaggatcc atgatacatg tggggtccat
     1021 aacctccacg gcttacctgg tgtagtggga ggccttgcag gcattgtggc agtagcaatg
     1081 ggcgcctcca acacgtctat ggccatgcag gcagctgcac tgggttcctc tatcggaaca
     1141 gcagttgttg gaggtctgat gacaggttta attctaaagt tgcctctctg gggacagcca
     1201 tctgaccaga actgctatga tgattctgtt tattggaagg tccctaagac gagataactt
     1261 gacaatcagt tccatggaca tggtgaccac agccagctgg aacctgaagt ctaaacacca
     1321 ttcctgctct ccagcttcct ttcccattat ccagaatcaa gtccaaataa acaaaaaggg
     1381 agtaaccaaa gagagtatgg accagagtga atagatccta agtcccaaat ggccagtgta
     1441 aaaatgtcct tatgtctgat gctgtctctt gctcttcaat gattaattga ggggatgtta
     1501 ctcataaaac agataatcaa atagatcttc tccaggattc ccaaaaagct tttggcagtg
     1561 agtaaataca gagtaaacat gtcagtttct taatgtagac actatgtctt caatcccaaa
     1621 aattataaaa ctgaaaccca tgaagcaaga atagatgtga gaaatctatg taaaaaaata
     1681 attaaagaaa tgcatgtgtg taaagtagta atatgatgat tttaggtagt gctttttatt
     1741 ttaaaaatag tctagttagt aatgttgtat ccttgcatga atattattct taattccttt
     1801 tgcatgttga ctatttgcaa cgagctcaaa tgctatctga tcaaagtcta ttttgcataa
     1861 aatgtccaat aattaaatat tgttataaaa taaaa
//
LOCUS       NM_000325               2294 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens paired like homeodomain 2 (PITX2), transcript variant
            3, mRNA.
ACCESSION   NM_000325
VERSION     NM_000325.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2294)
  AUTHORS   El-Harasis MA, Yoneda ZT, Davogustto GE, Crawford DM, Laws JL, Frye
            B, Herrmann T, Patel B, Touchton SA Jr, Roden DM, Richardson TD,
            Saavedra P, Shen ST, Estrada JC, Kanagasundram AN, Montgomery JA,
            Michaud GF, Crossley GH, Ellis CR and Shoemaker MB.
  TITLE     Pulmonary Vein Myocardial Sleeve Length and its Association With Sex
            and 4q25/PITX2 Genotype
  JOURNAL   JACC Clin Electrophysiol 9 (7 Pt 2), 1147-1157 (2023)
   PUBMED   37495323
  REMARK    GeneRIF: Pulmonary Vein Myocardial Sleeve Length and its Association
            With Sex and 4q25/PITX2 Genotype.
REFERENCE   2  (bases 1 to 2294)
  AUTHORS   van Kampen SJ, Han SJ, van Ham WB, Kyriakopoulou E, Stouthart EW,
            Goversen B, Monshouwer-Kloots J, Perini I, de Ruiter H, van der
            Kraak P, Vink A, van Laake LW, Groeneweg JA, de Boer TP, Tsui H,
            Boogerd CJ, van Veen TAB and van Rooij E.
  TITLE     PITX2 induction leads to impaired cardiomyocyte function in
            arrhythmogenic cardiomyopathy
  JOURNAL   Stem Cell Reports 18 (3), 749-764 (2023)
   PUBMED   36868229
  REMARK    GeneRIF: PITX2 induction leads to impaired cardiomyocyte function in
            arrhythmogenic cardiomyopathy.
REFERENCE   3  (bases 1 to 2294)
  AUTHORS   Shen Han Y, Ahmed AM, Chao Z, Jun W and Xiaochen Y.
  TITLE     Association Between rs2200733 Polymorphism of PITX2 Gene and the
            Risk of Atrial Fibrillation
  JOURNAL   Anatol J Cardiol 27 (3), 160-166 (2023)
   PUBMED   36856594
  REMARK    GeneRIF: Association Between rs2200733 Polymorphism of PITX2 Gene
            and the Risk of Atrial Fibrillation.
REFERENCE   4  (bases 1 to 2294)
  AUTHORS   Schulz C, Lemoine MD, Mearini G, Koivumaki J, Sani J, Schwedhelm E,
            Kirchhof P, Ghalawinji A, Stoll M, Hansen A, Eschenhagen T and
            Christ T.
  TITLE     PITX2 Knockout Induces Key Findings of Electrical Remodeling as Seen
            in Persistent Atrial Fibrillation
  JOURNAL   Circ Arrhythm Electrophysiol 16 (3), e011602 (2023)
   PUBMED   36763906
  REMARK    GeneRIF: PITX2 Knockout Induces Key Findings of Electrical
            Remodeling as Seen in Persistent Atrial Fibrillation.
REFERENCE   5  (bases 1 to 2294)
  AUTHORS   Zhou L, Wang X, An J, Zhang Y, He M and Tang L.
  TITLE     Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger
            syndrome
  JOURNAL   Exp Eye Res 226, 109307 (2023)
   PUBMED   36442680
  REMARK    GeneRIF: Genotype-phenotype association of PITX2 and FOXC1 in
            Axenfeld-Rieger syndrome. Review article
REFERENCE   6  (bases 1 to 2294)
  AUTHORS   Amendt BA, Sutherland LB, Semina EV and Russo AF.
  TITLE     The molecular basis of Rieger syndrome. Analysis of Pitx2
            homeodomain protein activities
  JOURNAL   J Biol Chem 273 (32), 20066-20072 (1998)
   PUBMED   9685346
REFERENCE   7  (bases 1 to 2294)
  AUTHORS   Arakawa H, Nakamura T, Zhadanov AB, Fidanza V, Yano T, Bullrich F,
            Shimizu M, Blechman J, Mazo A, Canaani E and Croce CM.
  TITLE     Identification and characterization of the ARP1 gene, a target for
            the human acute leukemia ALL1 gene
  JOURNAL   Proc Natl Acad Sci U S A 95 (8), 4573-4578 (1998)
   PUBMED   9539779
REFERENCE   8  (bases 1 to 2294)
  AUTHORS   Alward WL, Semina EV, Kalenak JW, Heon E, Sheth BP, Stone EM and
            Murray JC.
  TITLE     Autosomal dominant iris hypoplasia is caused by a mutation in the
            Rieger syndrome (RIEG/PITX2) gene
  JOURNAL   Am J Ophthalmol 125 (1), 98-100 (1998)
   PUBMED   9437321
REFERENCE   9  (bases 1 to 2294)
  AUTHORS   Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA,
            Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC and
            Murray JC.
  TITLE     Cloning and characterization of a novel bicoid-related homeobox
            transcription factor gene, RIEG, involved in Rieger syndrome
  JOURNAL   Nat Genet 14 (4), 392-399 (1996)
   PUBMED   8944018
REFERENCE   10  (bases 1 to 2294)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301552
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC013998.2, AF048722.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2162568
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000644743.1/ ENSP00000495061.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC017068.7 and BC013998.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000325.5.
            Summary: This gene encodes a member of the RIEG/PITX homeobox
            family, which is in the bicoid class of homeodomain proteins. The
            encoded protein acts as a transcription factor and regulates
            procollagen lysyl hydroxylase gene expression. This protein plays a
            role in the terminal differentiation of somatotroph and lactotroph
            cell phenotypes, is involved in the development of the eye, tooth
            and abdominal organs, and acts as a transcriptional regulator
            involved in basal and hormone-regulated activity of prolactin.
            Mutations in this gene are associated with Axenfeld-Rieger
            syndrome, iridogoniodysgenesis syndrome, and sporadic cases of
            Peters anomaly. A similar protein in other vertebrates is involved
            in the determination of left-right asymmetry during development.
            Alternatively spliced transcript variants encoding distinct
            isoforms have been described. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (3), also known as ARP1c, lacks
            several exons at the 5' end and has an alternate 5' exon, as
            compared to variant 2. The resulting isoform (c) has a longer and
            distinct N-terminus, as compared to isoform b.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2294
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25"
     gene            1..2294
                     /gene="PITX2"
                     /gene_synonym="ARP1; ASGD4; Brx1; IDG2; IGDS; IGDS2; IHG2;
                     IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS"
                     /note="paired like homeodomain 2"
                     /db_xref="GeneID:5308"
                     /db_xref="HGNC:HGNC:9005"
                     /db_xref="MIM:601542"
     misc_feature    408..410
                     /gene="PITX2"
                     /gene_synonym="ARP1; ASGD4; Brx1; IDG2; IGDS; IGDS2; IHG2;
                     IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS"
                     /note="upstream in-frame stop codon"
     CDS             618..1592
                     /gene="PITX2"
                     /gene_synonym="ARP1; ASGD4; Brx1; IDG2; IGDS; IGDS2; IHG2;
                     IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS"
                     /note="isoform c is encoded by transcript variant 3;
                     paired-like homeodomain transcription factor 2; rieg
                     bicoid-related homeobox transcription factor 1;
                     all1-responsive gene 1; solurshin; pituitary homeobox 2;
                     homeobox protein PITX2; ALL1-responsive protein ARP1"
                     /codon_start=1
                     /product="pituitary homeobox 2 isoform c"
                     /protein_id="NP_000316.2"
                     /db_xref="CCDS:CCDS3694.1"
                     /db_xref="GeneID:5308"
                     /db_xref="HGNC:HGNC:9005"
                     /db_xref="MIM:601542"
                     /translation="MNCMKGPLHLEHRAAGTKLSAVSSSSCHHPQPLAMASVLAPGQPR
                     SLDSSKHRLEVHTISDTSSPEAAEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQL
                     QELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERNQQAELCKNGF
                     GPQFNGLMQPYDDMYPGYSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPN
                     SISSMSMSSSMVPSAVTGVPGSSLNSLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYR
                     DTCNSSLASLRLKAKQHSSFGYASVQNPASNLSACQYAVDRPV"
     regulatory      2278..2283
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PITX2"
                     /gene_synonym="ARP1; ASGD4; Brx1; IDG2; IGDS; IGDS2; IHG2;
                     IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS"
                     /note="hexamer: AATATA"
     polyA_site      2294
                     /gene="PITX2"
                     /gene_synonym="ARP1; ASGD4; Brx1; IDG2; IGDS; IGDS2; IHG2;
                     IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS"
                     /note="major polyA site"
ORIGIN
        1 ggagccgcag atctggtccg tcgctcgcct gggtgcctgg agctgagctg cggcaaggcc
       61 cggctcctgt tcgaccgccc gaggggtgtg cgtgtgcgcg ttgcggaggg tgcgctcaga
      121 gggccgcgtc gtggctgcag cggctgctgc cgccgcaggg gatctaatat cacctacctg
      181 tccctgtcac tcttgacact tctctgtcag ggctgccgcg tggggggggg gcgggcagag
      241 cgcggtcggc gttagctttc cttattggag gggttcttgg gggagggagg gagagaagaa
      301 gggggtcttt gcccactctt gtttcgcttt ggagcttgga agcctgctcc ctaaagacgc
      361 tctgagtggt gcccttctgc ccacatccca tgtcttcgtt tgcccgctga ctttccgtct
      421 ccggactttt tcgcttgagc cttccggagg agacgggggc agcttggctt gagaactcgg
      481 cgggggttgc gtcccctggc tctccccgca gcggggaaac tccgcgccta gagcgcgacc
      541 cggagcgggc agcggcggct acgggggctc ggcggggcag tagccaagga ctagtagagc
      601 gtcgcgctcc ctcgtccatg aactgcatga aaggcccgct tcacttggag caccgagcag
      661 cggggaccaa gctgtcggcc gtctcctcat cttcctgtca ccatccccag ccgttagcca
      721 tggcttcggt tctggctccc ggtcagcccc ggtcgctgga ctcctccaag cacaggctgg
      781 aggtgcacac catctccgac acctccagcc cggaggccgc agagaaagat aaaagccagc
      841 aggggaagaa tgaggacgtg ggcgccgagg acccgtctaa gaagaagcgg caaaggcggc
      901 agcggactca ctttaccagc cagcagctcc aggagctgga ggccactttc cagaggaacc
      961 gctacccgga catgtccaca cgcgaagaaa tcgctgtgtg gaccaacctt acggaagccc
     1021 gagtccgggt ttggttcaag aatcgtcggg ccaaatggag aaagagggag cgcaaccagc
     1081 aggccgagct atgcaagaat ggcttcgggc cgcagttcaa tgggctcatg cagccctacg
     1141 acgacatgta cccaggctat tcctacaaca actgggccgc caagggcctt acatccgcct
     1201 ccctatccac caagagcttc cccttcttca actctatgaa cgtcaacccc ctgtcatcac
     1261 agagcatgtt ttccccaccc aactctatct cgtccatgag catgtcgtcc agcatggtgc
     1321 cctcagcagt gacaggcgtc ccgggctcca gtctcaacag cctgaataac ttgaacaacc
     1381 tgagtagccc gtcgctgaat tccgcggtgc cgacgcctgc ctgtccttac gcgccgccga
     1441 ctcctccgta tgtttatagg gacacgtgta actcgagcct ggccagcctg agactgaaag
     1501 caaagcagca ctccagcttc ggctacgcca gcgtgcagaa cccggcctcc aacctgagtg
     1561 cttgccagta tgcagtggac cggcccgtgt gagccgcacc cacagcgccg ggatcctagg
     1621 accttgccgg atggggcaac tccgcccttg aaagactggg aattatgcta gaaggtcgtg
     1681 ggcactaaag aaagggagag aaagagaagc tatatagaga aaaggaaacc actgaatcaa
     1741 agagagagct cctttgattt caaagggatg tcctcagtgt ctgacatctt tcactacaag
     1801 tatttctaac agttgcaagg acacatacac aaacaaatgt ttgactggat atgacatttt
     1861 aacattacta taagcttgtt attttttaag tttagcattg ttaacattta aatgactgaa
     1921 aggatgtata tatatcgaaa tgtcaaatta attttataaa agcagttgtt agtaatatca
     1981 caacagtgtt tttaaaggtt aggctttaaa ataaagcatg ttatacagaa gcgattagga
     2041 tttttcgctt gcgagcaagg gagtgtatat actaaatgcc acactgtatg tttctaacat
     2101 attattatta ttataaaaaa tgtgtgaata tcagttttag aatagtttct ctggtggatg
     2161 caatgatgtt tctgaaactg ctatgtacaa cctaccctgt gtataacatt tcgtacaata
     2221 ttattgtttt acttttcagc aaatatgaaa caaatgtgtt ttatttcatg ggagtaaaat
     2281 atactgcata caaa
//
LOCUS       NM_000326               1638 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA.
ACCESSION   NM_000326
VERSION     NM_000326.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1638)
  AUTHORS   Richard,A.J., Huckfeldt,R.M., Reichel,E. and Liang,M.C.
  TITLE     Variants of Uncertain Significance: Twins With Identical Pathogenic
            Gene Mutations in Retinitis Punctata Albescens
  JOURNAL   Ophthalmic Surg Lasers Imaging Retina 52 (8), 450-453 (2021)
   PUBMED   34410188
  REMARK    GeneRIF: Variants of Uncertain Significance: Twins With Identical
            Pathogenic Gene Mutations in Retinitis Punctata Albescens.
REFERENCE   2  (bases 1 to 1638)
  AUTHORS   Sparrow JR, Parmann R, Tsang SH, Allikmets R, Chang S and Jauregui
            R.
  TITLE     Shared Features in Retinal Disorders With Involvement of Retinal
            Pigment Epithelium
  JOURNAL   Invest Ophthalmol Vis Sci 62 (7), 15 (2021)
   PUBMED   34115091
  REMARK    GeneRIF: Shared Features in Retinal Disorders With Involvement of
            Retinal Pigment Epithelium.
REFERENCE   3  (bases 1 to 1638)
  AUTHORS   Al-Bdour M, Pauleck S, Dardas Z, Barham R, Ali D, Amr S, Mustafa L,
            Abu-Ameerh M, Maswadi R, Azab B and Awidi A.
  TITLE     Clinical heterogeneity in retinitis pigmentosa caused by variants in
            RP1 and RLBP1 in five extended consanguineous pedigrees
  JOURNAL   Mol Vis 26, 445-458 (2020)
   PUBMED   32587456
  REMARK    GeneRIF: Clinical heterogeneity in retinitis pigmentosa caused by
            variants in RP1 and RLBP1 in five extended consanguineous pedigrees.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1638)
  AUTHORS   Lima de Carvalho JR Jr, Kim HJ, Ueda K, Zhao J, Owji AP, Yang T,
            Tsang SH and Sparrow JR.
  TITLE     Effects of deficiency in the RLBP1-encoded visual cycle protein
            CRALBP on visual dysfunction in humans and mice
  JOURNAL   J Biol Chem 295 (19), 6767-6780 (2020)
   PUBMED   32188692
  REMARK    GeneRIF: Effects of deficiency in the RLBP1-encoded visual cycle
            protein CRALBP on visual dysfunction in humans and mice.
REFERENCE   5  (bases 1 to 1638)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1638)
  AUTHORS   Dunn KC, Aotaki-Keen AE, Putkey FR and Hjelmeland LM.
  TITLE     ARPE-19, a human retinal pigment epithelial cell line with
            differentiated properties
  JOURNAL   Exp Eye Res 62 (2), 155-169 (1996)
   PUBMED   8698076
REFERENCE   7  (bases 1 to 1638)
  AUTHORS   Intres R, Goldflam S, Cook JR and Crabb JW.
  TITLE     Molecular cloning and structural analysis of the human gene encoding
            cellular retinaldehyde-binding protein
  JOURNAL   J Biol Chem 269 (41), 25411-25418 (1994)
   PUBMED   7929238
REFERENCE   8  (bases 1 to 1638)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
REFERENCE   9  (bases 1 to 1638)
  AUTHORS   Sparkes RS, Heinzmann C, Goldflam S, Kojis T, Saari JC, Mohandas T,
            Klisak I, Bateman JB and Crabb JW.
  TITLE     Assignment of the gene (RLBP1) for cellular retinaldehyde-binding
            protein (CRALBP) to human chromosome 15q26 and mouse chromosome 7
  JOURNAL   Genomics 12 (1), 58-62 (1992)
   PUBMED   1733864
REFERENCE   10  (bases 1 to 1638)
  AUTHORS   Crabb JW, Goldflam S, Harris SE and Saari JC.
  TITLE     Cloning of the cDNAs encoding the cellular retinaldehyde-binding
            protein from bovine and human retina and comparison of the protein
            structures
  JOURNAL   J Biol Chem 263 (35), 18688-18692 (1988)
   PUBMED   3198595
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC004199.2, SRR1803611.244325.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2157437 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000268125.10/ ENSP00000268125.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124068.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000326.4.
            Summary: The protein encoded by this gene is a 36-kD water-soluble
            protein which carries 11-cis-retinaldehyde or 11-cis-retinal as
            physiologic ligands. It may be a functional component of the visual
            cycle. Mutations of this gene have been associated with severe
            rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal
            recessive retinitis pigmentosa) and retinitis punctata albescens.
            [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1638
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     gene            1..1638
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /note="retinaldehyde binding protein 1"
                     /db_xref="GeneID:6017"
                     /db_xref="HGNC:HGNC:10024"
                     /db_xref="MIM:180090"
     misc_feature    185..187
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /note="upstream in-frame stop codon"
     CDS             269..1222
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /note="cellular retinaldehyde-binding protein-1"
                     /codon_start=1
                     /product="retinaldehyde-binding protein 1"
                     /protein_id="NP_000317.1"
                     /db_xref="CCDS:CCDS32324.1"
                     /db_xref="GeneID:6017"
                     /db_xref="HGNC:HGNC:10024"
                     /db_xref="MIM:180090"
                     /translation="MSEGVGTFRMVPEEEQELRAQLEQLTTKDHGPVFGPCSQLPRHTL
                     QKAKDELNEREETREEAVRELQEMVQAQAASGEELAVAVAERVQEKDSGFFLRFIRARK
                     FNVGRAYELLRGYVNFRLQYPELFDSLSPEAVRCTIEAGYPGVLSSRDKYGRVVMLFNI
                     ENWQSQEITFDEILQAYCFILEKLLENEETQINGFCIIENFKGFTMQQAASLRTSDLRK
                     MVDMLQDSFPARFKAIHFIHQPWYFTTTYNVVKPFLKSKLLERVFVHGDDLSGFYQEID
                     ENILPSDFGGTLPKYDGKAVAEQLFGPQAQAENTAF"
     misc_feature    272..274
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /note="N-acetylserine.
                     /evidence=ECO:0000250|UniProtKB:P10123; propagated from
                     UniProtKB/Swiss-Prot (P12271.2); acetylation site"
     regulatory      1613..1618
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /note="hexamer: AATAAA"
     polyA_site      1638
                     /gene="RLBP1"
                     /gene_synonym="CRALBP"
                     /note="major polyA site"
ORIGIN
        1 attcaggtac caggtagccc caaggaggag ctgccgacct ggcagggaac aaccaagact
       61 ggggttaaat ctcacagcct gcaagtggaa gagaagaact tgaacccagg tccaactttt
      121 gcgccacagc aggctgcctc ttggtcctga caggaagtca caacttggcc ctgacttcct
      181 atcctaggga aggggccggc tggagaggcc aggacagaga aagcagatcc cttctttttc
      241 caaggactct gtgtcttcca taggcaacat gtcagaaggg gtgggcacgt tccgcatggt
      301 acctgaagag gaacaggagc tccgtgccca actggagcag ctcacaacca aggaccatgg
      361 acctgtcttt ggcccgtgca gccagctgcc ccgccacacc ttgcagaagg ccaaggatga
      421 gctgaacgag agagaggaga cccgggagga ggcagtgcga gagctgcagg agatggtgca
      481 ggcgcaggcg gcctcggggg aggagctggc ggtggccgtg gcggagaggg tgcaagagaa
      541 ggacagcggc ttcttcctgc gcttcatccg cgcacggaag ttcaacgtgg gccgtgccta
      601 tgagctgctc agaggctatg tgaatttccg gctgcagtac cctgagctct ttgacagcct
      661 gtccccagag gctgtccgct gcaccattga agctggctac cctggtgtcc tctctagtcg
      721 ggacaagtat ggccgagtgg tcatgctctt caacattgag aactggcaaa gtcaagaaat
      781 cacctttgat gagatcttgc aggcatattg cttcatcctg gagaagctgc tggagaatga
      841 ggaaactcaa atcaatggct tctgcatcat tgagaacttc aagggcttta ccatgcagca
      901 ggctgctagt ctccggactt cagatctcag gaagatggtg gacatgctcc aggattcctt
      961 cccagcccgg ttcaaagcca tccacttcat ccaccagcca tggtacttca ccacgaccta
     1021 caatgtggtc aagcccttct tgaagagcaa gctgcttgag agggtctttg tccacgggga
     1081 tgacctttct ggtttctacc aggagatcga tgagaacatc ctgccctctg acttcggggg
     1141 cacgctgccc aagtatgatg gcaaggccgt tgctgagcag ctctttggcc cccaggccca
     1201 agctgagaac acagccttct gaaaacatct cctgccagct gaactgtagt tagaatctct
     1261 gggcctctcc tcaactgtcc tggacccaag gctaggaaag ggctgcttga gatgactgtg
     1321 gtcccccctt agactcccta agcccgagtg agctcaggtg tcaccctgtt ctcaagttgg
     1381 gggatgggta ataaaggagg gggaattccc ttgaacaaga agaactgggg atagttatat
     1441 ttccacctgc ccttgaagct ttaagacagt gatttttgtg taaggttgta tttcaaagac
     1501 tcgaattcat tttctcagtc atttcctttg taacagagtt ttacgactta gagtctgtga
     1561 aaacaggcaa ggagcccggg ttaaaatatc cccctattcg cccccaaaat gcaataaaag
     1621 aagataaaag agagagga
//
LOCUS       NM_000327               1358 bp    mRNA    linear   PRI 18-MAR-2023
DEFINITION  Homo sapiens retinal outer segment membrane protein 1 (ROM1), mRNA.
ACCESSION   NM_000327
VERSION     NM_000327.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1358)
  AUTHORS   Zernant J, Lee W, Wang J, Goetz K, Ullah E, Nagasaki T, Su PY,
            Fishman GA, Tsang SH, Tumminia SJ, Brooks BP, Hufnagel RB, Chen R
            and Allikmets R.
  TITLE     Rare and common variants in ROM1 and PRPH2 genes trans-modify
            Stargardt/ABCA4 disease
  JOURNAL   PLoS Genet 18 (3), e1010129 (2022)
   PUBMED   35353811
  REMARK    GeneRIF: Rare and common variants in ROM1 and PRPH2 genes
            trans-modify Stargardt/ABCA4 disease. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 1358)
  AUTHORS   Zhang M, Jiang J and Ma C.
  TITLE     The Outer Retinal Membrane Protein 1 Could Inhibit Lung Cancer
            Progression as a Tumor Suppressor
  JOURNAL   Comput Math Methods Med 2021, 6651764 (2021)
   PUBMED   33680068
  REMARK    GeneRIF: The Outer Retinal Membrane Protein 1 Could Inhibit Lung
            Cancer Progression as a Tumor Suppressor. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1358)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1358)
  AUTHORS   Bohm S, Riedmayr LM, Nguyen ONP, Giessl A, Liebscher T, Butz ES,
            Schon C, Michalakis S, Wahl-Schott C, Biel M and Becirovic E.
  TITLE     Peripherin-2 and Rom-1 have opposing effects on rod outer segment
            targeting of retinitis pigmentosa-linked peripherin-2 mutants
  JOURNAL   Sci Rep 7 (1), 2321 (2017)
   PUBMED   28539581
  REMARK    GeneRIF: our study unravels unexpected opposing roles of per(WT) and
            Rom-1 in rod outer segment (OS)targeting of adRP-linked peripherin-2
            mutants and suggests a new treatment strategy for the affected
            individuals. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1358)
  AUTHORS   Conley SM, Stuck MW, Watson JN and Naash MI.
  TITLE     Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis
            pigmentosa
  JOURNAL   Hum Mol Genet 26 (3), 509-518 (2017)
   PUBMED   28053051
  REMARK    GeneRIF: ablation of Rom1 results in the conversion of an MD/PD
            phenotype characterized by cone functional defects and the formation
            of abnormal Prph2/Rom1 complexes to an RP phenotype characterized by
            rod-dominant functional defects and reductions in total Prph2
            protein. Thus one method by which ROM1 may act as a disease modifier
            is by contributing to the large variability in PRPH2-associated
            disease phenotype
REFERENCE   6  (bases 1 to 1358)
  AUTHORS   Kajiwara K, Berson EL and Dryja TP.
  TITLE     Digenic retinitis pigmentosa due to mutations at the unlinked
            peripherin/RDS and ROM1 loci
  JOURNAL   Science 264 (5165), 1604-1608 (1994)
   PUBMED   8202715
REFERENCE   7  (bases 1 to 1358)
  AUTHORS   Bascom RA, Liu L, Humphries P, Fishman GA, Murray JC and McInnes RR.
  TITLE     Polymorphisms and rare sequence variants at the ROM1 locus
  JOURNAL   Hum Mol Genet 2 (11), 1975-1977 (1993)
   PUBMED   7904211
REFERENCE   8  (bases 1 to 1358)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
REFERENCE   9  (bases 1 to 1358)
  AUTHORS   Bascom RA, Garcia-Heras J, Hsieh CL, Gerhard DS, Jones C, Francke U,
            Willard HF, Ledbetter DH and McInnes RR.
  TITLE     Localization of the photoreceptor gene ROM1 to human chromosome 11
            and mouse chromosome 19: sublocalization to human 11q13 between PGA
            and PYGM
  JOURNAL   Am J Hum Genet 51 (5), 1028-1035 (1992)
   PUBMED   1415249
REFERENCE   10  (bases 1 to 1358)
  AUTHORS   Bascom RA, Manara S, Collins L, Molday RS, Kalnins VI and McInnes
            RR.
  TITLE     Cloning of the cDNA for a novel photoreceptor membrane protein
            (rom-1) identifies a disk rim protein family implicated in human
            retinopathies
  JOURNAL   Neuron 8 (6), 1171-1184 (1992)
   PUBMED   1610568
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC008100.1, L07894.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000278833.4/ ENSP00000278833.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001458.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 25, 2020 this sequence version replaced NM_000327.3.
            Summary: This gene is a member of a photoreceptor-specific gene
            family and encodes an integral membrane protein found in the
            photoreceptor disk rim of the eye. This protein can form homodimers
            or can heterodimerize with another photoreceptor, retinal
            degeneration slow (RDS). It is essential for disk morphogenesis,
            and may also function as an adhesion molecule involved in the
            stabilization and compaction of outer segment disks or in the
            maintenance of the curvature of the rim. Certain defects in this
            gene have been associated with the degenerative eye disease
            retinitis pigmentosa. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1358
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     gene            1..1358
                     /gene="ROM1"
                     /gene_synonym="ROM; ROSP1; RP7; TSPAN23"
                     /note="retinal outer segment membrane protein 1"
                     /db_xref="GeneID:6094"
                     /db_xref="HGNC:HGNC:10254"
                     /db_xref="MIM:180721"
     CDS             26..1081
                     /gene="ROM1"
                     /gene_synonym="ROM; ROSP1; RP7; TSPAN23"
                     /note="tetraspanin-23"
                     /codon_start=1
                     /product="rod outer segment membrane protein 1"
                     /protein_id="NP_000318.2"
                     /db_xref="CCDS:CCDS8024.1"
                     /db_xref="GeneID:6094"
                     /db_xref="HGNC:HGNC:10254"
                     /db_xref="MIM:180721"
                     /translation="MAPVLPLVLPLQPRIRLAQGLWLLSWLLALAGGVILLCSGHLLVQ
                     LRHLGTFLAPSCQFPVLPQAALAAGAVALGTGLVGVGASRASLNAALYPPWRGVLGPLL
                     VAGTAGGGGLLVVGLGLALALPGSLDEALEEGLVTALAHYKDTEVPGHCQAKRLVDELQ
                     LRYHCCGRHGYKDWFGVQWVSSRYLDPGDRDVADRIQSNVEGLYLTDGVPFSCCNPHSP
                     RPCLQNRLSDSYAHPLFDPRQPNQNLWAQGCHEVLLEHLQDLAGTLGSMLAVTFLLQAL
                     VLLGLRYLQTALEGLGGVIDAGGETQGYLFPSGLKDMLKTAWLQGGVACRPAPEEAPPG
                     EAPPKEDLSEA"
     misc_feature    83..157
                     /gene="ROM1"
                     /gene_synonym="ROM; ROSP1; RP7; TSPAN23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03395.2);
                     transmembrane region"
     misc_feature    218..277
                     /gene="ROM1"
                     /gene_synonym="ROM; ROSP1; RP7; TSPAN23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03395.2);
                     transmembrane region"
     misc_feature    332..400
                     /gene="ROM1"
                     /gene_synonym="ROM; ROSP1; RP7; TSPAN23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03395.2);
                     transmembrane region"
     misc_feature    815..883
                     /gene="ROM1"
                     /gene_synonym="ROM; ROSP1; RP7; TSPAN23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03395.2);
                     transmembrane region"
     misc_feature    1016..1078
                     /gene="ROM1"
                     /gene_synonym="ROM; ROSP1; RP7; TSPAN23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03395.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1339..1344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ROM1"
                     /gene_synonym="ROM; ROSP1; RP7; TSPAN23"
                     /note="hexamer: AATAAA"
     polyA_site      1358
                     /gene="ROM1"
                     /gene_synonym="ROM; ROSP1; RP7; TSPAN23"
                     /note="major polyA site"
ORIGIN
        1 gcattccctt gggcagagat gggagatggc gccggtgttg cccctggtgc tgcccctgca
       61 gccccgcatc cgcctggcac aagggctctg gctcctctcc tggctgctgg cgctggctgg
      121 tggcgtcatc ctcctctgta gtgggcacct cctggtccag ctaaggcacc ttggcacctt
      181 cctggctccc tcctgtcagt tccctgtcct gccccaggct gccctggcag cgggcgcggt
      241 ggctctgggc acaggactag tgggtgtagg agccagccgg gcaagtctga atgcagctct
      301 ataccctccc tggcgagggg tcctgggccc gctgctggtg gctggcacgg ctggtggggg
      361 ggggctcctg gtcgtcggcc tcgggctagc cctggctttg cctgggagtc tggatgaggc
      421 gctggaggag ggcctggtga ctgccttggc tcactacaag gacacagagg tgcctgggca
      481 ctgtcaggcc aaaaggctgg tggatgagct gcaactgagg taccactgct gcgggcgcca
      541 cgggtacaag gattggtttg gggtccagtg ggtcagcagc cgttacctgg atcccggtga
      601 ccgggatgtg gctgaccgga tccagagcaa tgtagaaggc ctatacctga ctgatggggt
      661 ccctttctcc tgttgcaacc cccactcacc ccggccttgc ctgcaaaacc gtctttcaga
      721 ctcctacgcc caccccctgt tcgatccccg acaacccaac caaaacctct gggcccaagg
      781 gtgccatgag gtgctgctgg agcacttgca ggacttggca ggcacactgg gtagcatgct
      841 ggctgtcacc ttcctactgc aggctctggt gctccttggc ctgcggtacc tgcaaacagc
      901 actggagggg cttggagggg tcattgatgc gggaggagag acccagggct atctctttcc
      961 cagtgggctg aaagatatgc tgaaaacagc atggctacag ggaggggttg cctgcaggcc
     1021 agcacctgag gaggccccac caggagaagc acctcccaag gaggatctat ctgaggccta
     1081 gaggcctgga gcttggggtg aggaagaggg agggatggac aagtctgaaa acctcacaac
     1141 tccttaccaa ggctccaggt tggggggatc gtaggattag aggggctaag gatagtcagc
     1201 gagctggact ggggtaagaa agaaaaccag atgtcctagg gcctagccct tgtagtcaga
     1261 accaccaggg aacagcaaag aacagagtga tgggaaagtg acatgagaag gcctggaggc
     1321 tgattctgat atagactcaa taaagttttt ggatggaa
//
LOCUS       NM_000329               2605 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens retinoid isomerohydrolase RPE65 (RPE65), transcript
            variant 1, mRNA.
ACCESSION   NM_000329
VERSION     NM_000329.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2605)
  AUTHORS   Wu J, Sun Z, Zhang DW, Liu HL, Li T, Zhang S and Wu J.
  TITLE     Development of a novel prediction model based on protein structure
            for identifying RPE65-associated inherited retinal disease (IRDs) of
            missense variants
  JOURNAL   PeerJ 11, e15702 (2023)
   PUBMED   37547722
  REMARK    GeneRIF: Development of a novel prediction model based on protein
            structure for identifying RPE65-associated inherited retinal disease
            (IRDs) of missense variants. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2605)
  AUTHORS   Han J, Joo K, Kim US, Woo SJ, Lee EK, Lee JY, Park TK, Kim SJ and
            Byeon SH.
  TITLE     Voretigene Neparvovec for the Treatment of RPE65-associated Retinal
            Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD
            Consensus Paper Committee
  JOURNAL   Korean J Ophthalmol 37 (2), 166-186 (2023)
   PUBMED   36950921
  REMARK    GeneRIF: Voretigene Neparvovec for the Treatment of RPE65-associated
            Retinal Dystrophy: Consensus and Recommendations from the Korea
            RPE65-IRD Consensus Paper Committee.
REFERENCE   3  (bases 1 to 2605)
  AUTHORS   Vazquez-Dominguez I, Duijkers L, Fadaie Z, Alaerds ECW, Post MA, van
            Oosten EM, O'Gorman L, Kwint M, Koolen L, Hoogendoorn ADM, Kroes HY,
            Gilissen C, Cremers FPM, Collin RWJ, Roosing S and Garanto A.
  TITLE     The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a
            Reduction in mRNA Expression in a Cell-Specific Manner
  JOURNAL   Cells 11 (22), 3640 (2022)
   PUBMED   36429068
  REMARK    GeneRIF: The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to
            a Reduction in mRNA Expression in a Cell-Specific Manner.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2605)
  AUTHORS   Nicoletti A, Wong DJ, Kawase K, Gibson LH, Yang-Feng TL, Richards JE
            and Thompson DA.
  TITLE     Molecular characterization of the human gene encoding an abundant 61
            kDa protein specific to the retinal pigment epithelium
  JOURNAL   Hum Mol Genet 4 (4), 641-649 (1995)
   PUBMED   7633413
REFERENCE   5  (bases 1 to 2605)
  AUTHORS   Hamel CP, Jenkins NA, Gilbert DJ, Copeland NG and Redmond TM.
  TITLE     The gene for the retinal pigment epithelium-specific protein RPE65
            is localized to human 1p31 and mouse 3
  JOURNAL   Genomics 20 (3), 509-512 (1994)
   PUBMED   8034329
REFERENCE   6  (bases 1 to 2605)
  AUTHORS   Chao,D.L., Burr,A. and Pennesi,M.
  TITLE     RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe
            Retinal Dystrophy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   31725251
REFERENCE   7  (bases 1 to 2605)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   30285347
REFERENCE   8  (bases 1 to 2605)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
REFERENCE   9  (bases 1 to 2605)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301475
REFERENCE   10  (bases 1 to 2605)
  AUTHORS   Bavik CO, Busch C and Eriksson U.
  TITLE     Characterization of a plasma retinol-binding protein membrane
            receptor expressed in the retinal pigment epithelium
  JOURNAL   J Biol Chem 267 (32), 23035-23042 (1992)
   PUBMED   1331074
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC075036.2, U18991.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2155984 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000262340.6/ ENSP00000262340.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U18991.1 and AL139413.11.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000329.2.
            Summary: The protein encoded by this gene is a component of the
            vitamin A visual cycle of the retina which supplies the 11-cis
            retinal chromophore of the photoreceptors opsin visual pigments. It
            is a member of the carotenoid cleavage oxygenase superfamily. All
            members of this superfamily are non-heme iron oxygenases with a
            seven-bladed propeller fold and oxidatively cleave carotenoid
            carbon:carbon double bonds. However, the protein encoded by this
            gene has acquired a divergent function that involves the concerted
            O-alkyl ester cleavage of its all-trans retinyl ester substrate and
            all-trans to 11-cis double bond isomerization of the retinyl
            moiety. As such, it performs the essential enzymatic isomerization
            step in the synthesis of 11-cis retinal. Mutations in this gene are
            associated with early-onset severe blinding disorders such as Leber
            congenital. [provided by RefSeq, Oct 2017].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2605
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     gene            1..2605
                     /gene="RPE65"
                     /gene_synonym="BCO3; LCA2; mRPE65; p63; rd12; RP20; sRPE65"
                     /note="retinoid isomerohydrolase RPE65"
                     /db_xref="GeneID:6121"
                     /db_xref="HGNC:HGNC:10294"
                     /db_xref="MIM:180069"
     CDS             50..1651
                     /gene="RPE65"
                     /gene_synonym="BCO3; LCA2; mRPE65; p63; rd12; RP20; sRPE65"
                     /EC_number="3.1.1.64"
                     /EC_number="5.3.3.22"
                     /note="isoform 1 is encoded by transcript variant 1;
                     RBP-binding membrane protein; lutein isomerase; RPE65,
                     retinoid isomerohydrolase; retinitis pigmentosa 20
                     (autosomal recessive); retinol isomerase;
                     all-trans-retinyl-palmitate hydrolase; retinal pigment
                     epithelium-specific 65 kDa protein; BCO family, member 3;
                     retinal pigment epithelium-specific protein 65kDa; retinal
                     pigment epithelium specific protein 65; meso-zeaxanthin
                     isomerase"
                     /codon_start=1
                     /product="retinoid isomerohydrolase isoform 1"
                     /protein_id="NP_000320.1"
                     /db_xref="CCDS:CCDS643.1"
                     /db_xref="GeneID:6121"
                     /db_xref="HGNC:HGNC:10294"
                     /db_xref="MIM:180069"
                     /translation="MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRC
                     GPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYHRRFIRTDAYVRAMTEKRIVITEFG
                     TCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETI
                     KQVDLCNYVSVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISK
                     SEIVVQFPCSDRFKPSYVHSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFES
                     NETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNY
                     LYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDE
                     TIWLEPEVLFSGPRQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETW
                     VWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARAE
                     VEINIPVTFHGLFKKS"
     misc_feature    53..55
                     /gene="RPE65"
                     /gene_synonym="BCO3; LCA2; mRPE65; p63; rd12; RP20; sRPE65"
                     /note="N-acetylserine.
                     /evidence=ECO:0000250|UniProtKB:Q28175; propagated from
                     UniProtKB/Swiss-Prot (Q16518.3); acetylation site"
     misc_feature    350..352
                     /gene="RPE65"
                     /gene_synonym="BCO3; LCA2; mRPE65; p63; rd12; RP20; sRPE65"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:19049981; propagated from
                     UniProtKB/Swiss-Prot (Q16518.3); phosphorylation site"
     misc_feature    362..364
                     /gene="RPE65"
                     /gene_synonym="BCO3; LCA2; mRPE65; p63; rd12; RP20; sRPE65"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:19049981; propagated from
                     UniProtKB/Swiss-Prot (Q16518.3); phosphorylation site"
     misc_feature    386..388
                     /gene="RPE65"
                     /gene_synonym="BCO3; LCA2; mRPE65; p63; rd12; RP20; sRPE65"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:19049981; propagated from
                     UniProtKB/Swiss-Prot (Q16518.3); acetylation site"
     misc_feature    398..400
                     /gene="RPE65"
                     /gene_synonym="BCO3; LCA2; mRPE65; p63; rd12; RP20; sRPE65"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19049981; propagated from
                     UniProtKB/Swiss-Prot (Q16518.3); phosphorylation site"
     regulatory      2585..2590
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPE65"
                     /gene_synonym="BCO3; LCA2; mRPE65; p63; rd12; RP20; sRPE65"
                     /note="hexamer: AATAAA"
     polyA_site      2605
                     /gene="RPE65"
                     /gene_synonym="BCO3; LCA2; mRPE65; p63; rd12; RP20; sRPE65"
                     /note="major polyA site"
ORIGIN
        1 cttcattctg cagttggtgc cagaactctg gatcctgaac tggaagaaaa tgtctatcca
       61 ggttgagcat cctgctggtg gttacaagaa actgtttgaa actgtggagg aactgtcctc
      121 gccgctcaca gctcatgtaa caggcaggat ccccctctgg ctcaccggca gtctccttcg
      181 atgtgggcca ggactctttg aagttggatc tgagccattt taccacctgt ttgatgggca
      241 agccctcctg cacaagtttg actttaaaga aggacatgtc acataccaca gaaggttcat
      301 ccgcactgat gcttacgtac gggcaatgac tgagaaaagg atcgtcataa cagaatttgg
      361 cacctgtgct ttcccagatc cctgcaagaa tatattttcc aggttttttt cttactttcg
      421 aggagtagag gttactgaca atgcccttgt taatgtctac ccagtggggg aagattacta
      481 cgcttgcaca gagaccaact ttattacaaa gattaatcca gagaccttgg agacaattaa
      541 gcaggttgat ctttgcaact atgtctctgt caatggggcc actgctcacc cccacattga
      601 aaatgatgga accgtttaca atattggtaa ttgctttgga aaaaattttt caattgccta
      661 caacattgta aagatcccac cactgcaagc agacaaggaa gatccaataa gcaagtcaga
      721 gatcgttgta caattcccct gcagtgaccg attcaagcca tcttacgttc atagttttgg
      781 tctgactccc aactatatcg tttttgtgga gacaccagtc aaaattaacc tgttcaagtt
      841 cctttcttca tggagtcttt ggggagccaa ctacatggat tgttttgagt ccaatgaaac
      901 catgggggtt tggcttcata ttgctgacaa aaaaaggaaa aagtacctca ataataaata
      961 cagaacttct cctttcaacc tcttccatca catcaacacc tatgaagaca atgggtttct
     1021 gattgtggat ctctgctgct ggaaaggatt tgagtttgtt tataattact tatatttagc
     1081 caatttacgt gagaactggg aagaggtgaa aaaaaatgcc agaaaggctc cccaacctga
     1141 agttaggaga tatgtacttc ctttgaatat tgacaaggct gacacaggca agaatttagt
     1201 cacgctcccc aatacaactg ccactgcaat tctgtgcagt gacgagacta tctggctgga
     1261 gcctgaagtt ctcttttcag ggcctcgtca agcatttgag tttcctcaaa tcaattacca
     1321 gaagtattgt gggaaacctt acacatatgc gtatggactt ggcttgaatc actttgttcc
     1381 agataggctc tgtaagctga atgtcaaaac taaagaaact tgggtttggc aagagcctga
     1441 ttcataccca tcagaaccca tctttgtttc tcacccagat gccttggaag aagatgatgg
     1501 tgtagttctg agtgtggtgg tgagcccagg agcaggacaa aagcctgctt atctcctgat
     1561 tctgaatgcc aaggacttaa gtgaagttgc ccgggctgaa gtggagatta acatccctgt
     1621 cacctttcat ggactgttca aaaaatcttg agcatactcc agcaagatat gtttttggta
     1681 gcaaaactga gaaaatcagc ttcaggtctg caatcaaatt ctgttcaatt ttagcctgct
     1741 atatgtcatg gttttaactt gcagatgcgc acaattttgc aatgttttac agaaagcact
     1801 gagttgagca agcaattcct ttatttaaaa aaaaaagtac gtatttagat aatcatactt
     1861 cctctgtgag acaggccata actgaaaaac tcttaaatat ttagcaatca aataggaaat
     1921 gaatgtggac ttactaaatg gcttttaatt cctattataa gagcatattt taggtaccta
     1981 tctgctccaa ttatattttt aacatttaaa aaccaaagtc ctctacactt gatttatatt
     2041 atatgtggct ttgctgagtc aaggaagtat catgcaataa ggcttaatta ctaaatgtca
     2101 aaccaaactt tttctcaaac cagggactat catctaagat taattacagt aattattttg
     2161 cgtatacgta actgctcaaa gattatgaat cttatgaatg ttaacctttc cgtttattac
     2221 aagcaagtac tattatttct gattttataa taagaaaatc tgtgtttaat caactgaggc
     2281 ctctcaacca aataacatct cagagattaa gttatatatt aaaagcttat gtaacataaa
     2341 agcaagtaca tatagtagtg actatattta aaaaaacagc ataaaatgct taaaaatgta
     2401 atatttacta aaatcagatt atgggataat gttgcaggat tatactttat tgcatctttt
     2461 ttgtttaatt gtatttaagc attgtgcaat cacttgggaa aaatattaaa ttattaacat
     2521 tgaggtatta atacatttta agccttttgt ttttaaattt cttttcttcc agagattgtt
     2581 taaaaataaa tattgacaaa aataa
//
LOCUS       NM_000330               3031 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens retinoschisin 1 (RS1), mRNA.
ACCESSION   NM_000330
VERSION     NM_000330.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3031)
  AUTHORS   Chatterjee S, Gupta S, Kirola L, Chandra A, Mukherjee A and Mutsuddi
            M.
  TITLE     Identification and molecular characterization of two recurrent
            missense mutations in the RS1 gene in two families with X-linked
            retinoschisis from North India
  JOURNAL   Am J Med Genet A 191 (10), 2524-2535 (2023)
   PUBMED   37317958
  REMARK    GeneRIF: Identification and molecular characterization of two
            recurrent missense mutations in the RS1 gene in two families with
            X-linked retinoschisis from North India.
REFERENCE   2  (bases 1 to 3031)
  AUTHORS   da Cruz,N.F.S., Sengillo,J.D., Al-Khersan,H., Negron,C.I.,
            Felder,M.B., Patel,N.A. and Berrocal,A.M.
  TITLE     Vitreous Hemorrhage in Pediatric Patients With X-Linked
            Retinoschisis: Characteristics and Outcomes
  JOURNAL   Ophthalmic Surg Lasers Imaging Retina 54 (9), 513-518 (2023)
   PUBMED   37642422
  REMARK    GeneRIF: Vitreous Hemorrhage in Pediatric Patients With X-Linked
            Retinoschisis: Characteristics and Outcomes.
REFERENCE   3  (bases 1 to 3031)
  AUTHORS   Heymann JB, Vijayasarathy C, Fariss RN and Sieving PA.
  TITLE     Advances in understanding the molecular structure of retinoschisin
            while questions remain of biological function
  JOURNAL   Prog Retin Eye Res 95, 101147 (2023)
   PUBMED   36402656
  REMARK    GeneRIF: Advances in understanding the molecular structure of
            retinoschisin while questions remain of biological function. Review
            article
REFERENCE   4  (bases 1 to 3031)
  AUTHORS   Vijayasarathy C, Zeng Y, Marangoni D, Dong L, Pan ZH, Simpson EM,
            Fariss RN and Sieving PA.
  TITLE     Targeted Expression of Retinoschisin by Retinal Bipolar Cells in
            XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From
            Photoreceptors
  JOURNAL   Invest Ophthalmol Vis Sci 63 (11), 8 (2022)
   PUBMED   36227606
  REMARK    GeneRIF: Targeted Expression of Retinoschisin by Retinal Bipolar
            Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1
            From Photoreceptors.
REFERENCE   5  (bases 1 to 3031)
  AUTHORS   Luo P, Liu Q, Xing X, Liu Q and Luo Y.
  TITLE     [Analysis of RS1 gene variant in a Chinese pedigree affected with
            X-linked congenital retinal splitters]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 39 (4), 378-382 (2022)
   PUBMED   35446970
  REMARK    GeneRIF: [Analysis of RS1 gene variant in a Chinese pedigree
            affected with X-linked congenital retinal splitters].
REFERENCE   6  (bases 1 to 3031)
  AUTHORS   Shastry BS, Hejtmancik FJ and Trese MT.
  TITLE     Recurrent missense (R197C) and nonsense (Y89X) mutations in the
            XLRS1 gene in families with X-linked retinoschisis
  JOURNAL   Biochem Biophys Res Commun 256 (2), 317-319 (1999)
   PUBMED   10079181
REFERENCE   7  (bases 1 to 3031)
  AUTHORS   Hotta Y, Fujiki K, Hayakawa M, Ohta T, Fujimaki T, Tamaki K,
            Yokoyama T, Kanai A, Hirakata A, Hida T, Nishina S and Azuma N.
  TITLE     Japanese juvenile retinoschisis is caused by mutations of the XLRS1
            gene
  JOURNAL   Hum Genet 103 (2), 142-144 (1998)
   PUBMED   9760195
REFERENCE   8  (bases 1 to 3031)
  AUTHORS   Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC,
            Gibson A, Lorenz B, Jurklies B and Weber BH.
  TITLE     Positional cloning of the gene associated with X-linked juvenile
            retinoschisis
  JOURNAL   Nat Genet 17 (2), 164-170 (1997)
   PUBMED   9326935
REFERENCE   9  (bases 1 to 3031)
  AUTHORS   Sieving,P.A., MacDonald,I.M. and Hoang,S.
  TITLE     X-Linked Congenital Retinoschisis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301401
REFERENCE   10  (bases 1 to 3031)
  AUTHORS   Alitalo T, Kruse TA and de la Chapelle A.
  TITLE     Refined localization of the gene causing X-linked juvenile
            retinoschisis
  JOURNAL   Genomics 9 (3), 505-510 (1991)
   PUBMED   2032721
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF014459.1, SRR14372080.2647552.1
            [ECO:0000332]
            RNAseq introns :: partial sample support SAMEA1965299, SAMEA2142363
            [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379984.4/ ENSP00000369320.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z94056.1, DQ426892.1,
            AF014459.1, Z92542.2 and BQ185379.1.
            On Aug 31, 2019 this sequence version replaced NM_000330.3.
            Summary: This gene encodes an extracellular protein that plays a
            crucial role in the cellular organization of the retina. The
            encoded protein is assembled and secreted from photoreceptors and
            bipolar cells as a homo-oligomeric protein complex. Mutations in
            this gene are responsible for X-linked retinoschisis, a common,
            early-onset macular degeneration in males that results in a
            splitting of the inner layers of the retina and severe loss in
            vision. [provided by RefSeq, Oct 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3031
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.13"
     gene            1..3031
                     /gene="RS1"
                     /gene_synonym="RS; XLRS1"
                     /note="retinoschisin 1"
                     /db_xref="GeneID:6247"
                     /db_xref="HGNC:HGNC:10457"
                     /db_xref="MIM:300839"
     misc_feature    8..10
                     /gene="RS1"
                     /gene_synonym="RS; XLRS1"
                     /note="upstream in-frame stop codon"
     CDS             41..715
                     /gene="RS1"
                     /gene_synonym="RS; XLRS1"
                     /note="X-linked juvenile retinoschisis protein"
                     /codon_start=1
                     /product="retinoschisin precursor"
                     /protein_id="NP_000321.1"
                     /db_xref="CCDS:CCDS14187.1"
                     /db_xref="GeneID:6247"
                     /db_xref="HGNC:HGNC:10457"
                     /db_xref="MIM:300839"
                     /translation="MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGG
                     PNALWSAGATSLDCIPECPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLN
                     SQGFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNW
                     IYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSK
                     CA"
     sig_peptide     41..109
                     /gene="RS1"
                     /gene_synonym="RS; XLRS1"
     mat_peptide     110..712
                     /gene="RS1"
                     /gene_synonym="RS; XLRS1"
                     /product="retinoschisin"
ORIGIN
        1 agttcagtaa ggtagagctt tggccgagga cgaggggaag atgtcacgca agatagaagg
       61 ctttttgtta ttacttctct ttggctatga agccacattg ggattatcgt ctaccgagga
      121 tgaaggcgag gacccctggt accaaaaagc atgcaagtgc gattgccaag gaggacccaa
      181 tgctctgtgg tctgcaggtg ccacctcctt ggactgtata ccagaatgcc catatcacaa
      241 gcctctgggt ttcgagtcag gggaggtcac accggaccag atcacctgct ctaacccgga
      301 gcagtatgtg ggctggtatt cttcgtggac tgcaaacaag gcccggctca acagtcaagg
      361 ctttgggtgt gcctggctct ccaagttcca ggacagtagc cagtggttac agatagatct
      421 gaaggagatc aaagtgattt cagggatcct cacccagggg cgctgtgaca tcgatgagtg
      481 gatgaccaag tacagcgtgc agtacaggac cgatgagcgc ctgaactgga tttactacaa
      541 ggaccagact ggaaacaacc gggtcttcta tggcaactcg gaccgcacct ccacggttca
      601 gaacctgctg cggcccccca tcatctcccg cttcatccgc ctcatcccgc tgggctggca
      661 cgtccgcatt gccatccgga tggagctgct ggagtgcgtc agcaagtgtg cctgatgcct
      721 gcctcagctc ggcgcctgcc agggggtgac tggcacagag cgggccgtag gggaccccct
      781 cacacaccac cgagatggac agggctatat ttcgcaaagc aattgtaact gcagtgctgg
      841 gtagataatt tttttttttt taagatatag ctttctgatt tcaatgaaat aaaaatgaac
      901 ttattcccca ctcagggcca gagaaagtca gaacaaagaa aatgtccccg aaacgaattt
      961 tcttacaaaa gcctaagtag caggggtaat tttctgctca ttttttgtct cagtgatact
     1021 gtgaaaggtg cagtctcagg ggaacacaaa gcagccctga taatttgaaa attcatttgc
     1081 tttaccacat tcaagacaga aacatacagt ttcctaaagc ctggctttga atgcagaagg
     1141 gagcagctcc tcctagttaa gtttccacta aatcatcgcc aaagaggact tcagagccct
     1201 ggggaggcag ctgagggtct caagggtgac tgggtggcag ggatgagtgc ggtgggtgag
     1261 aatcccggtg ccctgagagg ctatacgtga caaatgacca aaagcccaag gtaggggagt
     1321 ttcctctgct cacagttctt accttcaagg cggatctggg cttccaccct catgaacaca
     1381 gggattgggg agggaccaga gcgcccaata cacacagctc cattatgcaa tccattccag
     1441 caaattcccc gtgtctgtgg tcaccattta ggtgatcata caggacaggc tgcacatctc
     1501 agtatatgta gggaccccaa atgaccacaa cacagtacaa ttgcccttta cctagggcta
     1561 ccatttccta gcaaaccaaa catagttcga gaacagctgg cccaggagct accactggct
     1621 actcagagga ggctcattag ctggctacat gcttcgcagg aagtgggaag gactcacatc
     1681 ataaaaagga ccatgtagct ttttccctga aagcttctca ccctccaccc tctgccttgc
     1741 aatacgcaaa ctgcgcctgc tcctgaaaag ctctctggga aggaatgggc ctggctttcc
     1801 gttcctggag gcggcgcctt agattgggag gcctcattgg ccacttagag cgcagcctga
     1861 gtttccaggc cccttcctgg gagaggctgt taacacgggg gaggggcagg agagggatat
     1921 ggagagcagg tggtggaatc agaggacgag gctgctctaa agactgttct ggccccagac
     1981 acagggtagt ctttgctagc agctcatttc cgagttactt ttcattttca aatgccaagg
     2041 caagtgacta gactcgcgct aatacagtgc tggacaacac attcaccttt tctgtgaaca
     2101 ggcagccttc taaaagcccc aaacatcctt cttgatgctt tgggggctca attattttat
     2161 atccaaccca gcatctttct agtccctatg ctgtatgctt gaacttcgga aaatgctttt
     2221 ccccgcccaa tcttctctca aatataaaca catcacacag ggtgttgggg gtgggggggg
     2281 ggggtggggg gacttatccc tggccttagg acacaggaca aatctatttt ggatagaaat
     2341 gcctgaacag agacccttat ttggaaaggt gaattaactt tggtcacgac atggactgtc
     2401 agacaaaatg gcagtatcct aagagttaag gcacatcaaa cacaggagtc gagagagtgc
     2461 agttcaggga aaaaggagag gaggaaacag tgaggcaggg agaaaggctt tccaaataag
     2521 agttcatgtt ggaaactttt gtcacggctt tattgagatt aagttcacat acaatttgta
     2581 tccatttaaa gtgtacaatt tgatgacttt tggtatattc agagttgtgc aaccattatc
     2641 actagatcaa ttttagaaag tttatcaccc caaagagaaa tcctgcaccc atcagccaac
     2701 actccccaac ccatcggcca ccccaagccc tctgcaacca cgaatcgact gtctctgtag
     2761 attggccttc tggacgttct acataaatga aatcatatag tatgtggtat ttcgtgactg
     2821 gcttctttca cttagcatag tgttttaaag ttcatccacg ttataacatg tgtatcacta
     2881 tgtcacttgt cactcctttt tattgctgaa catcattgtt cagtatcatg tcaagagcac
     2941 attgttattt atccattcat ccattgatgg atatttgggt ttccactctt tagctattat
     3001 gaataatgct gctatgaaca tttgtgtata a
//
LOCUS       NM_000334               7805 bp    mRNA    linear   PRI 12-MAY-2023
DEFINITION  Homo sapiens sodium voltage-gated channel alpha subunit 4 (SCN4A),
            mRNA.
ACCESSION   NM_000334
VERSION     NM_000334.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7805)
  AUTHORS   Vacchiano V, Brugnoni R, Campanale C, Imbrici P, Dinoi G, Canioni E,
            Laghetti P, Saltarella I, Altamura C, Maggi L, Liguori R, Donadio V
            and Desaphy JF.
  TITLE     Coexistence of SCN4A and CLCN1 mutations in a family with atypical
            myotonic features: A clinical and functional study
  JOURNAL   Exp Neurol 362, 114342 (2023)
   PUBMED   36720299
  REMARK    GeneRIF: Coexistence of SCN4A and CLCN1 mutations in a family with
            atypical myotonic features: A clinical and functional study.
REFERENCE   2  (bases 1 to 7805)
  AUTHORS   Segawa K, Nishiyama M, Mori I, Kubota T and Takahashi MP.
  TITLE     Hyperkalemic periodic paralysis associated with a novel missense
            variant located in the inner pore of Nav1.4
  JOURNAL   Brain Dev 45 (4), 205-211 (2023)
   PUBMED   36628799
  REMARK    GeneRIF: Hyperkalemic periodic paralysis associated with a novel
            missense variant located in the inner pore of Nav1.4.
REFERENCE   3  (bases 1 to 7805)
  AUTHORS   Shibano M, Kubota T, Kokubun N, Miyaji Y, Kuriki H, Ito Y, Hamanoue
            H and Takahashi MP.
  TITLE     Periodic paralysis due to cumulative effects of rare variants in
            SCN4A with small functional alterations
  JOURNAL   Muscle Nerve 66 (6), 757-761 (2022)
   PUBMED   36116128
  REMARK    GeneRIF: Periodic paralysis due to cumulative effects of rare
            variants in SCN4A with small functional alterations.
REFERENCE   4  (bases 1 to 7805)
  AUTHORS   Ke Q, Zhao Y, Li Y, Ye J, Tang S, He F, Ji F, Dai X, Ni J, Li Y,
            Griggs RC and Cheng X.
  TITLE     Clinical comparison and functional study of the L703P: a recurrent
            mutation in human SCN4A that causes sodium channel myotonia
  JOURNAL   Neuromuscul Disord 32 (10), 811-819 (2022)
   PUBMED   36050252
  REMARK    GeneRIF: Clinical comparison and functional study of the L703P: a
            recurrent mutation in human SCN4A that causes sodium channel
            myotonia.
REFERENCE   5  (bases 1 to 7805)
  AUTHORS   Weber,F.
  TITLE     Hyperkalemic Periodic Paralysis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301669
REFERENCE   6  (bases 1 to 7805)
  AUTHORS   Weber,F. and Lehmann-Horn,F.
  TITLE     Hypokalemic Periodic Paralysis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301512
REFERENCE   7  (bases 1 to 7805)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301347
REFERENCE   8  (bases 1 to 7805)
  AUTHORS   McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W,
            Verellen C, McKenna-Yasek D, Rao K, Haines JL, Bird T, Brown RH Jr
            et al.
  TITLE     Temperature-sensitive mutations in the III-IV cytoplasmic loop
            region of the skeletal muscle sodium channel gene in paramyotonia
            congenita
  JOURNAL   Cell 68 (4), 769-774 (1992)
   PUBMED   1310898
REFERENCE   9  (bases 1 to 7805)
  AUTHORS   Ptacek LJ, Tawil R, Griggs RC, Storvick D and Leppert M.
  TITLE     Linkage of atypical myotonia congenita to a sodium channel locus
  JOURNAL   Neurology 42 (2), 431-433 (1992)
   PUBMED   1310531
REFERENCE   10  (bases 1 to 7805)
  AUTHORS   Wang JZ, Rojas CV, Zhou JH, Schwartz LS, Nicholas H and Hoffman EP.
  TITLE     Sequence and genomic structure of the human adult skeletal muscle
            sodium channel alpha subunit gene on 17q
  JOURNAL   Biochem Biophys Res Commun 182 (2), 794-801 (1992)
   PUBMED   1310396
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M81758.1, AY212253.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000435607.3/ ENSP00000396320.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M81758.1, AY212253.1 and
            AC127029.12.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 26, 2006 this sequence version replaced NM_000334.3.
            Summary: Voltage-gated sodium channels are transmembrane
            glycoprotein complexes composed of a large alpha subunit with 24
            transmembrane domains and one or more regulatory beta subunits.
            They are responsible for the generation and propagation of action
            potentials in neurons and muscle. This gene encodes one member of
            the sodium channel alpha subunit gene family. It is expressed in
            skeletal muscle, and mutations in this gene have been linked to
            several myotonia and periodic paralysis disorders. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7805
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     gene            1..7805
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="sodium voltage-gated channel alpha subunit 4"
                     /db_xref="GeneID:6329"
                     /db_xref="HGNC:HGNC:10591"
                     /db_xref="MIM:603967"
     misc_feature    60..62
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="upstream in-frame stop codon"
     CDS             78..5588
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="skeletal muscle sodium channel alpha subunit;
                     skeletal muscle voltage-dependent sodium channel type IV
                     alpha subunit; sodium channel protein type IV subunit
                     alpha; voltage-gated sodium channel subunit alpha Nav1.4;
                     sodium channel protein skeletal muscle subunit alpha;
                     sodium channel, voltage-gated, type IV, alpha subunit;
                     CTC-264K15.6"
                     /codon_start=1
                     /product="sodium channel protein type 4 subunit alpha"
                     /protein_id="NP_000325.4"
                     /db_xref="CCDS:CCDS45761.1"
                     /db_xref="GeneID:6329"
                     /db_xref="HGNC:HGNC:10591"
                     /db_xref="MIM:603967"
                     /translation="MARPSLCTLVPLGPECLRPFTRESLAAIEQRAVEEEARLQRNKQM
                     EIEEPERKPRSDLEAGKNLPMIYGDPPPEVIGIPLEDLDPYYSNKKTFIVLNKGKAIFR
                     FSATPALYLLSPFSVVRRGAIKVLIHALFSMFIMITILTNCVFMTMSDPPPWSKNVEYT
                     FTGIYTFESLIKILARGFCVDDFTFLRDPWNWLDFSVIMMAYLTEFVDLGNISALRTFR
                     VLRALKTITVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALVGLQLFMGNLRQKCV
                     RWPPPFNDTNTTWYSNDTWYGNDTWYGNEMWYGNDSWYANDTWNSHASWATNDTFDWDA
                     YISDEGNFYFLEGSNDALLCGNSSDAGHCPEGYECIKTGRNPNYGYTSYDTFSWAFLAL
                     FRLMTQDYWENLFQLTLRAAGKTYMIFFVVIIFLGSFYLINLILAVVAMAYAEQNEATL
                     AEDKEKEEEFQQMLEKFKKHQEELEKAKAAQALEGGEADGDPAHGKDCNGSLDTSQGEK
                     GAPRQSSSGDSGISDAMEELEEAHQKCPPWWYKCAHKVLIWNCCAPWLKFKNIIHLIVM
                     DPFVDLGITICIVLNTLFMAMEHYPMTEHFDNVLTVGNLVFTGIFTAEMVLKLIAMDPY
                     EYFQQGWNIFDSIIVTLSLVELGLANVQGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIG
                     NSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKIALDCNLPRWHMHDFFHSFLI
                     VFRILCGEWIETMWDCMEVAGQAMCLTVFLMVMVIGNLVVLNLFLALLLSSFSADSLAA
                     SDEDGEMNNLQIAIGRIKLGIGFAKAFLLGLLHGKILSPKDIMLSLGEADGAGEAGEAG
                     ETAPEDEKKEPPEEDLKKDNHILNHMGLADGPPSSLELDHLNFINNPYLTIQVPIASEE
                     SDLEMPTEEETDTFSEPEDSKKPPQPLYDGNSSVCSTADYKPPEEDPEEQAEENPEGEQ
                     PEECFTEACVQRWPCLYVDISQGRGKKWWTLRRACFKIVEHNWFETFIVFMILLSSGAL
                     AFEDIYIEQRRVIRTILEYADKVFTYIFIMEMLLKWVAYGFKVYFTNAWCWLDFLIVDV
                     SIISLVANWLGYSELGPIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLV
                     CLIFWLIFSIMGVNLFAGKFYYCINTTTSERFDISEVNNKSECESLMHTGQVRWLNVKV
                     NYDNVGLGYLSLLQVATFKGWMDIMYAAVDSREKEEQPQYEVNLYMYLYFVIFIIFGSF
                     FTLNLFIGVIIDNFNQQKKKLGGKDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPQNKIQ
                     GMVYDLVTKQAFDITIMILICLNMVTMMVETDNQSQLKVDILYNINMIFIIIFTGECVL
                     KMLALRQYYFTVGWNIFDFVVVILSIVGLALSDLIQKYFVSPTLFRVIRLARIGRVLRL
                     IRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFGMSNFAYVKKESGIDDMFNFE
                     TFGNSIICLFEITTSAGWDGLLNPILNSGPPDCDPNLENPGTSVKGDCGNPSIGICFFC
                     SYIIISFLIVVNMYIAIILENFNVATEESSEPLGEDDFEMFYETWEKFDPDATQFIAYS
                     RLSDFVDTLQEPLRIAKPNKIKLITLDLPMVPGDKIHCLDILFALTKEVLGDSGEMDAL
                     KQTMEEKFMAANPSKVSYEPITTTLKRKHEEVCAIKIQRAYRRHLLQRSMKQASYMYRH
                     SHDGSGDDAPEKEGLLANTMSKMYGHENGNSSSPSPEEKGEAGDAGPTMGLMPISPSDT
                     AWPPAPPPGQTVRPGVKESLV"
     misc_feature    192..266
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    414..1439
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     Region: I. /evidence=ECO:0000305"
     misc_feature    471..527
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    549..611
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    654..707
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    717..719
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35499.4); glycosylation site"
     misc_feature    726..776
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    834..893
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    939..941
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35499.4); glycosylation site"
     misc_feature    948..950
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35499.4); glycosylation site"
     misc_feature    966..968
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35499.4); glycosylation site"
     misc_feature    984..986
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35499.4); glycosylation site"
     misc_feature    1020..1022
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35499.4); glycosylation site"
     misc_feature    1038..1040
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35499.4); glycosylation site"
     misc_feature    1074..1076
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35499.4); glycosylation site"
     misc_feature    1161..1163
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30190309,
                     ECO:0007744|PDB:6AGF; propagated from UniProtKB/Swiss-Prot
                     (P35499.4); glycosylation site"
     misc_feature    1296..1298
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="Important for inhibition by tetrodotoxin.
                     /evidence=ECO:0000250|UniProtKB:P15390; propagated from
                     UniProtKB/Swiss-Prot (P35499.4); other site"
     misc_feature    1347..1409
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    1554..1667
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1755..2573
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     Region: II. /evidence=ECO:0000305"
     misc_feature    1812..1868
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    1902..1961
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    2004..2063
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    2070..2123
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    2172..2228
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    2412..2468
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    2664..2735
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2865..3053
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3114..4055
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     Region: III. /evidence=ECO:0000305"
     misc_feature    3174..3227
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    3267..3323
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    3366..3422
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    3447..3503
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    3555..3614
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    3648..3650
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35499.4); glycosylation site"
     misc_feature    3690..3692
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30190309,
                     ECO:0007744|PDB:6AGF; propagated from UniProtKB/Swiss-Prot
                     (P35499.4); glycosylation site"
     misc_feature    3885..3950
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    4005..4013
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     Region: Important for rapid channel inactivation.
                     /evidence=ECO:0000250|UniProtKB:P15390"
     misc_feature    4059..4061
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="Phosphoserine, by PKC. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P35499.4);
                     phosphorylation site"
     misc_feature    4080..4976
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     Region: IV. /evidence=ECO:0000305"
     misc_feature    4140..4193
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    4227..4283
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    4320..4373
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    4413..4463
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    4521..4574
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    4800..4868
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     transmembrane region"
     misc_feature    5409..5585
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35499.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      7781..7786
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="hexamer: AATAAA"
     polyA_site      7805
                     /gene="SCN4A"
                     /gene_synonym="CMS16; CMYP22A; HOKPP2; HYKPP; HYPP;
                     Na(V)1.4; NAC1A; Nav1.4; SkM1"
                     /note="major polyA site"
ORIGIN
        1 ccagcacccc ggggctgcgc actgcagctc cccaggccac ccaccaccct tctggtctct
       61 gagcccagga tgcgaggatg gccagaccat ctctgtgcac cctggtgcct ctgggccctg
      121 agtgcttgcg ccccttcacc cgggagtcac tggcagccat agaacagcgg gcggtggagg
      181 aggaggcccg gctgcagcgg aataagcaga tggagattga ggagcccgaa cggaagccac
      241 gaagtgactt ggaggctggc aagaacctac ccatgatcta cggagacccc ccgccggagg
      301 tcatcggcat ccccctggag gacctggatc cctactacag caataagaag accttcatcg
      361 tactcaacaa gggcaaggcc atcttccgct tctccgccac acctgctctc tacctgctga
      421 gccccttcag cgtagtcagg cgcggggcca tcaaggtgct catccatgcg ctgttcagca
      481 tgttcatcat gatcaccatc ttgaccaact gcgtattcat gaccatgagt gacccgcctc
      541 cctggtccaa gaatgtggag tacaccttca cagggatcta cacctttgag tccctcatca
      601 agatactggc ccgaggcttc tgtgtcgacg acttcacatt cctccgggac ccctggaact
      661 ggctggactt cagtgtcatc atgatggcgt acctgacaga gtttgtggac ttgggcaaca
      721 tctcagccct gaggaccttc cgggtgctgc gggccctcaa aaccatcacg gtcatcccag
      781 ggctgaagac gatcgtgggg gccctgatcc agtcggtgaa aaagctgtcg gatgtgatga
      841 tcctcactgt cttctgcctg agcgtctttg cgctggtagg actgcagctc ttcatgggaa
      901 acctgaggca gaagtgtgtg cgctggcccc cgccgttcaa cgacaccaac accacgtggt
      961 acagcaatga cacgtggtac ggcaatgaca catggtatgg caatgagatg tggtacggca
     1021 atgactcatg gtatgccaac gacacgtgga acagccatgc aagctgggcc accaacgata
     1081 cctttgattg ggacgcctac atcagtgatg aagggaactt ctacttcctg gagggctcca
     1141 acgatgccct gctctgtggg aacagcagtg atgctgggca ctgccctgag ggttatgagt
     1201 gcatcaagac cgggcggaac cccaactatg gctacaccag ctatgacacc ttcagctggg
     1261 ccttcttggc tctcttccgc ctcatgacac aggactattg ggagaacctc ttccagctga
     1321 cccttcgagc agctggcaag acctacatga tcttcttcgt ggtcatcatc ttcctgggct
     1381 ctttctacct catcaatctg atcctggccg tggtggccat ggcatatgcc gagcagaatg
     1441 aggccaccct ggccgaggat aaggagaaag aggaggagtt tcagcagatg cttgagaagt
     1501 tcaaaaagca ccaggaggag ctggagaagg ccaaggccgc ccaagctctg gaaggtgggg
     1561 aggcagatgg ggacccagcc catggcaaag actgcaatgg cagcctggac acatcgcaag
     1621 gggagaaggg agccccgagg cagagcagca gcggagacag cggcatctcc gacgccatgg
     1681 aagaactgga agaggcccac caaaagtgcc caccatggtg gtacaagtgc gcccacaaag
     1741 tgctcatatg gaactgctgc gccccgtggc tgaagttcaa gaacatcatc cacctgatcg
     1801 tcatggaccc gttcgtggac ctgggcatca ccatctgcat cgtgctcaac accctcttca
     1861 tggccatgga acattacccc atgacggagc actttgacaa cgtgctcact gtgggcaacc
     1921 tggtcttcac aggcatcttc acagcagaga tggttctgaa gctgattgcc atggacccct
     1981 acgagtattt ccagcagggt tggaatatct tcgacagcat catcgtcacc ctcagcctgg
     2041 tagagctagg cctggccaac gtacagggac tgtctgtgct acgctccttc cgtctgctgc
     2101 gggtcttcaa gctggccaag tcgtggccaa cgctgaacat gctcatcaag atcattggca
     2161 attcagtggg ggcgctgggt aacctgacgc tggtgctggc tatcatcgtg ttcatcttcg
     2221 ccgtggtggg catgcagctg tttggcaaga gctacaagga gtgcgtgtgc aagattgcct
     2281 tggactgcaa cctgccgcgc tggcacatgc atgatttctt ccactccttc ctcatcgtct
     2341 tccgcatcct gtgcggggag tggatcgaga ccatgtggga ctgcatggag gtggccggcc
     2401 aagccatgtg cctcaccgtc ttcctcatgg tcatggtcat cggcaatctt gtggtcctga
     2461 acctgttcct ggctctgctg ctgagctcct tcagcgccga cagtctggca gcctcggatg
     2521 aggatggcga gatgaacaac ctgcagattg ccatcgggcg catcaagttg ggcatcggct
     2581 ttgccaaggc cttcctcctg gggctgctgc atggcaagat cctgagcccc aaggacatca
     2641 tgctcagcct cggggaggct gacggggccg gggaggctgg agaggcgggg gagactgccc
     2701 ccgaggatga gaagaaggag ccgcccgagg aggacctgaa gaaggacaat cacatcctga
     2761 accacatggg cctggctgac ggccccccat ccagcctcga gctggaccac cttaacttca
     2821 tcaacaaccc ctacctgacc atacaggtgc ccatcgcctc cgaggagtcc gacctggaga
     2881 tgcccaccga ggaggaaacc gacactttct cagagcctga ggatagcaag aagccgccgc
     2941 agcctctcta tgatgggaac tcgtccgtct gcagcacagc tgactacaag ccccccgagg
     3001 aggaccctga ggagcaggca gaggagaacc ccgaggggga gcagcctgag gagtgcttca
     3061 ctgaggcctg cgtgcagcgc tggccctgcc tctacgtgga catctcccag ggccgtggga
     3121 agaagtggtg gactctgcgc agggcctgct tcaagattgt cgagcacaac tggttcgaga
     3181 ccttcattgt cttcatgatc ctgctcagca gtggggctct ggccttcgag gacatctaca
     3241 ttgagcagcg gcgagtcatt cgcaccatcc tagaatatgc cgacaaggtc ttcacctaca
     3301 tcttcatcat ggagatgctg ctcaaatggg tggcctacgg ctttaaggtg tacttcacca
     3361 acgcctggtg ctggctcgac ttcctcatcg tggatgtctc catcatcagc ttggtggcca
     3421 actggctggg ctactcggag ctgggaccca tcaaatccct gcggacactg cgggccctgc
     3481 gtcccctgag ggcactgtcc cgattcgagg gcatgagggt ggtggtgaac gccctcctag
     3541 gcgccatccc ctccatcatg aatgtgctgc ttgtctgcct catcttctgg ctgatcttca
     3601 gcatcatggg tgtcaacctg tttgccggca agttctacta ctgcatcaac accaccacct
     3661 ctgagaggtt cgacatctcc gaggtcaaca acaagtctga gtgcgagagc ctcatgcaca
     3721 caggccaggt ccgctggctc aatgtcaagg tcaactacga caacgtgggt ctgggctacc
     3781 tctccctcct gcaggtggcc accttcaagg gttggatgga catcatgtat gcagccgtgg
     3841 actcccggga gaaggaggag cagccgcagt acgaggtgaa cctctacatg tacctctact
     3901 ttgtcatctt catcatcttt ggctccttct tcaccctcaa cctcttcatt ggcgtcatca
     3961 ttgacaactt caaccagcag aagaagaagt taggggggaa agacatcttt atgacggagg
     4021 aacagaagaa atactataac gccatgaaga agcttggctc caagaagcct cagaagccaa
     4081 ttccccggcc ccagaacaag atccagggca tggtgtatga cctcgtgacg aagcaggcct
     4141 tcgacatcac catcatgatc ctcatctgcc tcaacatggt caccatgatg gtggagacag
     4201 acaaccagag ccagctcaag gtggacatcc tgtacaacat caacatgatc ttcatcatca
     4261 tcttcacagg ggagtgcgtg ctcaagatgc tcgccctgcg ccagtactac ttcaccgttg
     4321 gctggaacat ctttgacttc gtggtcgtca tcctgtccat tgtgggcctt gccctctctg
     4381 acctgatcca gaagtacttc gtgtcaccca cgctgttccg tgtgatccgc ctggcgcgga
     4441 ttgggcgtgt cctgcggctg atccgcgggg ccaagggcat ccggacgctg ctgttcgccc
     4501 tcatgatgtc gctgcctgcc ctcttcaaca tcggcctcct cctcttcctg gtcatgttca
     4561 tctactccat cttcggcatg tccaactttg cctacgtcaa gaaggagtcg ggcatcgatg
     4621 atatgttcaa cttcgagacc ttcggcaaca gcatcatctg cctgttcgag atcaccacgt
     4681 cggccggctg ggacgggctc ctcaacccca tcctcaacag cgggccccca gactgtgacc
     4741 ccaacctgga gaacccgggc accagtgtca agggtgactg cggcaacccc tccatcggca
     4801 tctgcttctt ctgcagctat atcatcatct ccttcctcat cgtggtcaac atgtacatcg
     4861 ccatcatcct ggagaacttc aatgtggcca cagaggagag cagcgagccc cttggtgaag
     4921 atgactttga gatgttctac gagacatggg agaagttcga ccccgacgcc acccagttca
     4981 tcgcctacag ccgcctctca gacttcgtgg acaccctgca ggaaccgctg aggattgcca
     5041 agcccaacaa gatcaagctc atcacactgg acttgcccat ggtgccaggg gacaagatcc
     5101 actgcctgga catcctcttt gccctgacca aagaggtcct gggtgactct ggggaaatgg
     5161 acgccctcaa gcagaccatg gaggagaagt tcatggcagc caacccctcc aaggtgtcct
     5221 acgagcccat caccaccacc ctcaagagga agcacgagga ggtgtgcgcc atcaagatcc
     5281 agagggccta ccgccggcac ctgctacagc gctccatgaa gcaggcatcc tacatgtacc
     5341 gccacagcca cgacggcagc ggggatgacg cccctgagaa ggaggggctg cttgccaaca
     5401 ccatgagcaa gatgtatggc cacgagaatg ggaacagcag ctcgccaagc ccggaggaga
     5461 agggcgaggc aggggacgcc ggacccacta tggggctgat gcccatcagc ccctcagaca
     5521 ctgcctggcc tcccgcccct cccccagggc agactgtgcg cccaggtgtc aaggagtctc
     5581 ttgtctagca ggcagcatcg gggtggccca ctgagtctcg gcatagtccc cagagctccc
     5641 ccgtggtgcc tgcacacaga gtgagggagg agggctttga atctgggact gtgcctggct
     5701 ccctgatggg ggacaggatt tggccacact ggggctgaca cccaggcccg agcgcctgcg
     5761 ttcccagacc atgggaaatg ggaattgcgc tcaggggctc catgctgggt ctgaggcccc
     5821 tgcctccaag atttaacctg caagttgctc tgacctcctc tgggccctgt cgcccctcct
     5881 tttggcctgg gggaggtcag aacattcgaa tctctgcccc tcacttgagg aggagctggc
     5941 ctgcggtgga gggatcagtt gccccccatc accagagtct taagggtcac tggcctctcc
     6001 ccaggaagtg gctcagaccc ctcagcccca gcccagacaa agatgtctta acctcaggga
     6061 gtgcagacac ctaaccccag ggcactgcca gcccaccccc tttgactctg gggtgcagct
     6121 tcacccacca ggccagctca ggaattccct ggaaaaggga aatgtgactg gttcagaaat
     6181 agctcctcaa agcctcaaaa cctgattggc cactggatcc tgctgctttg ggctgggatg
     6241 gtgactcctg aaacctcttc ctaggccacg tccaggtccg tagctcccct ggctggctcc
     6301 taggggaaga gcagaaggaa ggatgccact tgggaatgaa ttgtcctttt ctaggaagca
     6361 cgggggagtg agacaggctg ggtcctgcca gctggatcgc tgcacatggc ctgagcatcc
     6421 agacctgagc gggagtcagg gacctgctgc tcagtaagaa gattctcgcc ccttccctct
     6481 ctccctgcct cactcctccg tgagcaccac cagggctcca ggagcctcat ccagcctcag
     6541 agatctccct tctcatctcc ccacgcccgt ctctttctca cctttcccac ctctctcccc
     6601 aaagtgatcc taagaatgta cagttgagct caggttagat atttcgaccc tggggcgtgc
     6661 agcagggaag gcccaactgg ttcaggctca accttccaac ttcctgtggc ctgaagaagc
     6721 acttctgctg catcgctgtt ctgggcatgg cagggccagg cctctgctgg ctcaggagga
     6781 ggggtgagag acctgctcag gcgtcgctgg atttattcac ttgtgtgtgt acctgtggct
     6841 gtgtgtctgc ttgtatgctt ttataggcct gtgtgtatag ctgtgtgtgt gttcaagtgc
     6901 gtgactgtat gtgtgtgtgt gaaccactgt gtactggagc ctgcattatg cacgtgtctg
     6961 ggtatctttg tatatatgtg tatatatgtg tgccctggac tgtttcaagg tccatggagt
     7021 acggctggtg tgtcatactg tgcaggcctg tccctgggag tgttcccgtg cctgggagag
     7081 tggacctgtg ctgtgagtgt gtggatgcgt gtgaacgcat gtggtaaggt gtgtactcag
     7141 ggcattctgt tggcctaagt gcctcttctt tttcttcttg tttctcatga aaagtttgat
     7201 taaaattcag gaagcagcaa aaccttcaaa acaagacatg tatgtgtgct tgagtgtgtg
     7261 aacacgtgtg tgtgtgtgca catctacatg ccatgcctat gggccagagt tgtctttatt
     7321 gtccaccatg ctctctcacc tgctcccagt cctgcctgaa cagccctctc tctcactccc
     7381 ctctcctccc cttcctgttt ctcgttgtca cacccatggc ctcagccctg ctccctgcct
     7441 cctgcctatg tctcctctat ggaaggaggc ctccactcct tccatctctt ccttcagaag
     7501 tttcgtctaa tgggggcagt ctccccttcc tggcacattg cccctctgcc ttgccctcct
     7561 gggccctggg ctggcacagc ccctggagcc tcagaaatct gtttgattgg atattctcct
     7621 cggactgtgt gcaggttgca gaggaagagt agatgagccg ggtccggcct ctccctgcct
     7681 gtggcccctc ccctgcagac ggatgcccat tcctgcctgg tccagtgggg aacaggtccc
     7741 acgccaggcc agcaggcggg ctcctttgta cagttcttac aataaaccct ccttggtgcc
     7801 tctgg
//
LOCUS       NM_000335               8516 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens sodium voltage-gated channel alpha subunit 5 (SCN5A),
            transcript variant 2, mRNA.
ACCESSION   NM_000335
VERSION     NM_000335.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8516)
  AUTHORS   Salvarani N, Peretto G, Silvia C, Villatore A, Thairi C, Santoni A,
            Galli C, Carrera P, Sala S, Benedetti S, Di Pasquale E and Di Resta
            C.
  TITLE     Functional Characterisation of the Rare SCN5A p.E1225K Variant,
            Segregating in a Brugada Syndrome Familial Case, in Human
            Cardiomyocytes from Pluripotent Stem Cells
  JOURNAL   Int J Mol Sci 24 (11), 9548 (2023)
   PUBMED   37298497
  REMARK    GeneRIF: Functional Characterisation of the Rare SCN5A p.E1225K
            Variant, Segregating in a Brugada Syndrome Familial Case, in Human
            Cardiomyocytes from Pluripotent Stem Cells. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 8516)
  AUTHORS   Lu A, Gu R, Chu C, Xia Y, Wang J, Davis DR and Liang W.
  TITLE     Inhibition of Wnt/beta-catenin signaling upregulates Nav 1.5
            channels in Brugada syndrome iPSC-derived cardiomyocytes
  JOURNAL   Physiol Rep 11 (10), e15696 (2023)
   PUBMED   37226398
  REMARK    GeneRIF: Inhibition of Wnt/beta-catenin signaling upregulates Nav
            1.5 channels in Brugada syndrome iPSC-derived cardiomyocytes.
REFERENCE   3  (bases 1 to 8516)
  AUTHORS   Wang Y, Long S, Wei C and Wang X.
  TITLE     Rare Compound Heterozygous Missense Mutation of the SCN5A Gene with
            Childhood-Onset Sick Sinus Syndrome in Two Chinese Sisters
  JOURNAL   Int Heart J 64 (2), 299-305 (2023)
   PUBMED   36927930
  REMARK    GeneRIF: Rare Compound Heterozygous Missense Mutation of the SCN5A
            Gene with Childhood-Onset Sick Sinus Syndrome in Two Chinese
            Sisters.
REFERENCE   4  (bases 1 to 8516)
  AUTHORS   Zhu J, Shen Y, Xiong H, Zha H, Zhang L, Peng H and Tian L.
  TITLE     Identification of a novel missense SCN5A mutation in a Chinese Han
            family with Brugada syndrome
  JOURNAL   Biochem Biophys Res Commun 649, 55-61 (2023)
   PUBMED   36745970
  REMARK    GeneRIF: Identification of a novel missense SCN5A mutation in a
            Chinese Han family with Brugada syndrome.
REFERENCE   5  (bases 1 to 8516)
  AUTHORS   George AL Jr, Varkony TA, Drabkin HA, Han J, Knops JF, Finley WH,
            Brown GB, Ward DC and Haas M.
  TITLE     Assignment of the human heart tetrodotoxin-resistant voltage-gated
            Na+ channel alpha-subunit gene (SCN5A) to band 3p21
  JOURNAL   Cytogenet Cell Genet 68 (1-2), 67-70 (1995)
   PUBMED   7956363
REFERENCE   6  (bases 1 to 8516)
  AUTHORS   Jiang C, Atkinson D, Towbin JA, Splawski I, Lehmann MH, Li H,
            Timothy K, Taggart RT, Schwartz PJ, Vincent GM et al.
  TITLE     Two long QT syndrome loci map to chromosomes 3 and 7 with evidence
            for further heterogeneity
  JOURNAL   Nat Genet 8 (2), 141-147 (1994)
   PUBMED   7842012
REFERENCE   7  (bases 1 to 8516)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301690
REFERENCE   8  (bases 1 to 8516)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301486
REFERENCE   9  (bases 1 to 8516)
  AUTHORS   Alders,M., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301308
REFERENCE   10  (bases 1 to 8516)
  AUTHORS   Gellens ME, George AL Jr, Chen LQ, Chahine M, Horn R, Barchi RL and
            Kallen RG.
  TITLE     Primary structure and functional expression of the human cardiac
            tetrodotoxin-insensitive voltage-dependent sodium channel
  JOURNAL   Proc Natl Acad Sci U S A 89 (2), 554-558 (1992)
   PUBMED   1309946
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: AY148488.1, AF482988.1 [ECO:0000331]
            RNAseq introns :: mixed sample support SAMEA1968189, SAMEA1968540
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000423572.7/ ENSP00000398266.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP006241.1, BU845010.1,
            AF482988.1, AY148488.1, BC051374.1 and AB158469.2.
            On Oct 23, 2019 this sequence version replaced NM_000335.4.
            Summary: The protein encoded by this gene is an integral membrane
            protein and tetrodotoxin-resistant voltage-gated sodium channel
            subunit. This protein is found primarily in cardiac muscle and is
            responsible for the initial upstroke of the action potential in an
            electrocardiogram. Defects in this gene have been associated with
            long QT syndrome type 3 (LQT3), atrial fibrillation,
            cardiomyopathy, and Brugada syndrome 1, all autosomal dominant
            cardiac diseases. Alternative splicing results in several
            transcript variants encoding different isoforms. [provided by
            RefSeq, May 2022].
            Transcript Variant: This variant (2) uses a different acceptor
            splice site at one of the coding exons, 3 nt downstream of that
            used by transcript variant 1. This results in an isoform (b)
            shorter by just a single aa, compared to isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8516
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.2"
     gene            1..8516
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="sodium voltage-gated channel alpha subunit 5"
                     /db_xref="GeneID:6331"
                     /db_xref="HGNC:HGNC:10593"
                     /db_xref="MIM:600163"
     CDS             210..6257
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="isoform b is encoded by transcript variant 2;
                     cardiac tetrodotoxin-insensitive voltage-dependent sodium
                     channel alpha subunit; sodium channel protein type 5
                     subunit alpha; voltage-gated sodium channel subunit alpha
                     Nav1.5; sodium channel protein cardiac muscle subunit
                     alpha; sodium channel, voltage-gated, type V, alpha
                     subunit"
                     /codon_start=1
                     /product="sodium channel protein type 5 subunit alpha
                     isoform b"
                     /protein_id="NP_000326.2"
                     /db_xref="CCDS:CCDS46797.1"
                     /db_xref="GeneID:6331"
                     /db_xref="HGNC:HGNC:10593"
                     /db_xref="MIM:600163"
                     /translation="MANFLLPRGTSSFRRFTRESLAAIEKRMAEKQARGSTTLQESREG
                     LPEEEAPRPQLDLQASKKLPDLYGNPPQELIGEPLEDLDPFYSTQKTFIVLNKGKTIFR
                     FSATNALYVLSPFHPIRRAAVKILVHSLFNMLIMCTILTNCVFMAQHDPPPWTKYVEYT
                     FTAIYTFESLVKILARGFCLHAFTFLRDPWNWLDFSVIIMAYTTEFVDLGNVSALRTFR
                     VLRALKTISVISGLKTIVGALIQSVKKLADVMVLTVFCLSVFALIGLQLFMGNLRHKCV
                     RNFTALNGTNGSVEADGLVWESLDLYLSDPENYLLKNGTSDVLLCGNSSDAGTCPEGYR
                     CLKAGENPDHGYTSFDSFAWAFLALFRLMTQDCWERLYQQTLRSAGKIYMIFFMLVIFL
                     GSFYLVNLILAVVAMAYEEQNQATIAETEEKEKRFQEAMEMLKKEHEALTIRGVDTVSR
                     SSLEMSPLAPVNSHERRSKRRKRMSSGTEECGEDRLPKSDSEDGPRAMNHLSLTRGLSR
                     TSMKPRSSRGSIFTFRRRDLGSEADFADDENSTAGESESHHTSLLVPWPLRRTSAQGQP
                     SPGTSAPGHALHGKKNSTVDCNGVVSLLGAGDPEATSPGSHLLRPVMLEHPPDTTTPSE
                     EPGGPQMLTSQAPCVDGFEEPGARQRALSAVSVLTSALEELEESRHKCPPCWNRLAQRY
                     LIWECCPLWMSIKQGVKLVVMDPFTDLTITMCIVLNTLFMALEHYNMTSEFEEMLQVGN
                     LVFTGIFTAEMTFKIIALDPYYYFQQGWNIFDSIIVILSLMELGLSRMSNLSVLRSFRL
                     LRVFKLAKSWPTLNTLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKNYSELRDS
                     DSGLLPRWHMMDFFHAFLIIFRILCGEWIETMWDCMEVSGQSLCLLVFLLVMVIGNLVV
                     LNLFLALLLSSFSADNLTAPDEDREMNNLQLALARIQRGLRFVKRTTWDFCCGLLRQRP
                     QKPAALAAQGQLPSCIATPYSPPPPETEKVPPTRKETRFEEGEQPGQGTPGDPEPVCVP
                     IAVAESDTDDQEEDEENSLGTEEESSKQESQPVSGGPEAPPDSRTWSQVSATASSEAEA
                     SASQADWRQQWKAEPQAPGCGETPEDSCSEGSTADMTNTAELLEQIPDLGQDVKDPEDC
                     FTEGCVRRCPCCAVDTTQAPGKVWWRLRKTCYHIVEHSWFETFIIFMILLSSGALAFED
                     IYLEERKTIKVLLEYADKMFTYVFVLEMLLKWVAYGFKKYFTNAWCWLDFLIVDVSLVS
                     LVANTLGFAEMGPIKSLRTLRALRPLRALSRFEGMRVVVNALVGAIPSIMNVLLVCLIF
                     WLIFSIMGVNLFAGKFGRCINQTEGDLPLNYTIVNNKSQCESLNLTGELYWTKVKVNFD
                     NVGAGYLALLQVATFKGWMDIMYAAVDSRGYEEQPQWEYNLYMYIYFVIFIIFGSFFTL
                     NLFIGVIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKYQGFI
                     FDIVTKQAFDVTIMFLICLNMVTMMVETDDQSPEKINILAKINLLFVAIFTGECIVKLA
                     ALRHYYFTNSWNIFDFVVVILSIVGTVLSDIIQKYFFSPTLFRVIRLARIGRILRLIRG
                     AKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFGMANFAYVKWEAGIDDMFNFQTFA
                     NSMLCLFQITTSAGWDGLLSPILNTGPPYCDPTLPNSNGSRGDCGSPAVGILFFTTYII
                     ISFLIVVNMYIAIILENFSVATEESTEPLSEDDFDMFYEIWEKFDPEATQFIEYSVLSD
                     FADALSEPLRIAKPNQISLINMDLPMVSGDRIHCMDILFAFTKRVLGESGEMDALKIQM
                     EEKFMAANPSKISYEPITTTLRRKHEEVSAMVIQRAFRRHLLQRSLKHASFLFRQQAGS
                     GLSEEDAPEREGLIAYVMSENFSRPLGPPSSSSISSTSFPPSYDSVTRATSDNLQVRGS
                     DYSHSEDLADFPPSPDRDRESIV"
     misc_feature    291..377
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    315..317
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); phosphorylation site"
     misc_feature    321..323
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); phosphorylation site"
     misc_feature    546..1469
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     Region: I. /evidence=ECO:0000305"
     misc_feature    603..659
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    681..743
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    786..839
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    849..851
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14524.2); glycosylation site"
     misc_feature    858..908
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    966..1025
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    1056..1058
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14524.2); glycosylation site"
     misc_feature    1071..1073
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14524.2); glycosylation site"
     misc_feature    1080..1082
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14524.2); glycosylation site"
     misc_feature    1161..1163
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14524.2); glycosylation site"
     misc_feature    1191..1193
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14524.2); glycosylation site"
     misc_feature    1377..1439
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    1578..1580
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); phosphorylation site"
     misc_feature    1587..1589
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); phosphorylation site"
     misc_feature    1590..1982
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1656..1658
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); phosphorylation site"
     misc_feature    1659..1661
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); phosphorylation site"
     misc_feature    1665..1667
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P15389; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); phosphorylation site"
     misc_feature    1698..1700
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); phosphorylation site"
     misc_feature    1737..1739
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); phosphorylation site"
     misc_feature    1746..1748
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Dimethylated arginine, alternate.
                     /evidence=ECO:0000269|PubMed:21726068;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0000269|PubMed:21726068; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); methylation site"
     misc_feature    1785..1787
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Dimethylated arginine, alternate.
                     /evidence=ECO:0000269|PubMed:21726068;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0000269|PubMed:21726068; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); methylation site"
     misc_feature    1824..1826
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JJV9; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); phosphorylation site"
     misc_feature    1920..1922
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); phosphorylation site"
     misc_feature    2199..2201
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); phosphorylation site"
     misc_feature    2208..2210
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23092124; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); phosphorylation site"
     misc_feature    2247..2249
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Dimethylated arginine, alternate.
                     /evidence=ECO:0000269|PubMed:21726068;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0000269|PubMed:21726068; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); methylation site"
     misc_feature    2304..3116
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     Region: II. /evidence=ECO:0000305"
     misc_feature    2361..2417
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    2427..2429
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14524.2); glycosylation site"
     misc_feature    2451..2510
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    2553..2612
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    2616..2618
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14524.2); glycosylation site"
     misc_feature    2619..2672
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    2721..2777
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    2799..2801
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14524.2); glycosylation site"
     misc_feature    2961..3023
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    3765..4709
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     Region: III. /evidence=ECO:0000305"
     misc_feature    3825..3878
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    3918..3974
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    4017..4073
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    4098..4154
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    4206..4265
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    4299..4301
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14524.2); glycosylation site"
     misc_feature    4326..4328
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14524.2); glycosylation site"
     misc_feature    4344..4346
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14524.2); glycosylation site"
     misc_feature    4368..4370
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14524.2); glycosylation site"
     misc_feature    4539..4604
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    4713..4715
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000305|PubMed:19666841; propagated from
                     UniProtKB/Swiss-Prot (Q14524.2); phosphorylation site"
     misc_feature    4734..5627
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     Region: IV. /evidence=ECO:0000305"
     misc_feature    4794..4847
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    4881..4937
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    4974..5027
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    5067..5117
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    5175..5228
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    5412..5414
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14524.2); glycosylation site"
     misc_feature    5451..5519
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     transmembrane region"
     misc_feature    5721..5909
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     Region: Interaction with FGF13.
                     /evidence=ECO:0000269|PubMed:22705208"
     misc_feature    6081..6254
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    6126..6137
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14524.2);
                     Region: Interaction with NEDD4, NEDD4L and WWP2.
                     /evidence=ECO:0000269|PubMed:15548568"
     regulatory      8499..8504
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="hexamer: AATAAA"
     polyA_site      8516
                     /gene="SCN5A"
                     /gene_synonym="CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1;
                     ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1"
                     /note="major polyA site"
ORIGIN
        1 agagccgcgg agccgagacg gcggcggcgc ccgtaggatg cagggatcgc tcccccgggg
       61 ccgctgagcc tgcgcccagt gccccgagcc ccgcgccgag ccgagtccgc gccaagcagc
      121 agccgcccac cccggggccc ggccggggga ccagcagctt ccccacaggc aacgtgagga
      181 gagcctgtgc ccagaagcag gatgagaaga tggcaaactt cctattacct cggggcacca
      241 gcagcttccg caggttcaca cgggagtccc tggcagccat cgagaagcgc atggcagaga
      301 agcaagcccg cggctcaacc accttgcagg agagccgaga ggggctgccc gaggaggagg
      361 ctccccggcc ccagctggac ctgcaggcct ccaaaaagct gccagatctc tatggcaatc
      421 caccccaaga gctcatcgga gagcccctgg aggacctgga ccccttctat agcacccaaa
      481 agactttcat cgtactgaat aaaggcaaga ccatcttccg gttcagtgcc accaacgcct
      541 tgtatgtcct cagtcccttc caccccatcc ggagagcggc tgtgaagatt ctggttcact
      601 cgctcttcaa catgctcatc atgtgcacca tcctcaccaa ctgcgtgttc atggcccagc
      661 acgaccctcc accctggacc aagtatgtcg agtacacctt caccgccatt tacacctttg
      721 agtctctggt caagattctg gctcgaggct tctgcctgca cgcgttcact ttccttcggg
      781 acccatggaa ctggctggac tttagtgtga ttatcatggc atacacaact gaatttgtgg
      841 acctgggcaa tgtctcagcc ttacgcacct tccgagtcct ccgggccctg aaaactatat
      901 cagtcatttc agggctgaag accatcgtgg gggccctgat ccagtctgtg aagaagctgg
      961 ctgatgtgat ggtcctcaca gtcttctgcc tcagcgtctt tgccctcatc ggcctgcagc
     1021 tcttcatggg caacctaagg cacaagtgcg tgcgcaactt cacagcgctc aacggcacca
     1081 acggctccgt ggaggccgac ggcttggtct gggaatccct ggacctttac ctcagtgatc
     1141 cagaaaatta cctgctcaag aacggcacct ctgatgtgtt actgtgtggg aacagctctg
     1201 acgctgggac atgtccggag ggctaccggt gcctaaaggc aggcgagaac cccgaccacg
     1261 gctacaccag cttcgattcc tttgcctggg cctttcttgc actcttccgc ctgatgacgc
     1321 aggactgctg ggagcgcctc tatcagcaga ccctcaggtc cgcagggaag atctacatga
     1381 tcttcttcat gcttgtcatc ttcctggggt ccttctacct ggtgaacctg atcctggccg
     1441 tggtcgcaat ggcctatgag gagcaaaacc aagccaccat cgctgagacc gaggagaagg
     1501 aaaagcgctt ccaggaggcc atggaaatgc tcaagaaaga acacgaggcc ctcaccatca
     1561 ggggtgtgga taccgtgtcc cgtagctcct tggagatgtc ccctttggcc ccagtaaaca
     1621 gccatgagag aagaagcaag aggagaaaac ggatgtcttc aggaactgag gagtgtgggg
     1681 aggacaggct ccccaagtct gactcagaag atggtcccag agcaatgaat catctcagcc
     1741 tcacccgtgg cctcagcagg acttctatga agccacgttc cagccgcggg agcattttca
     1801 cctttcgcag gcgagacctg ggttctgaag cagattttgc agatgatgaa aacagcacag
     1861 cgggggagag cgagagccac cacacatcac tgctggtgcc ctggcccctg cgccggacca
     1921 gtgcccaggg acagcccagt cccggaacct cggctcctgg ccacgccctc catggcaaaa
     1981 agaacagcac tgtggactgc aatggggtgg tctcattact gggggcaggc gacccagagg
     2041 ccacatcccc aggaagccac ctcctccgcc ctgtgatgct agagcacccg ccagacacga
     2101 ccacgccatc ggaggagcca ggcgggcccc agatgctgac ctcccaggct ccgtgtgtag
     2161 atggcttcga ggagccagga gcacggcagc gggccctcag cgcagtcagc gtcctcacca
     2221 gcgcactgga agagttagag gagtctcgcc acaagtgtcc accatgctgg aaccgtctcg
     2281 cccagcgcta cctgatctgg gagtgctgcc cgctgtggat gtccatcaag cagggagtga
     2341 agttggtggt catggacccg tttactgacc tcaccatcac tatgtgcatc gtactcaaca
     2401 cactcttcat ggcgctggag cactacaaca tgacaagtga attcgaggag atgctgcagg
     2461 tcggaaacct ggtcttcaca gggattttca cagcagagat gaccttcaag atcattgccc
     2521 tcgaccccta ctactacttc caacagggct ggaacatctt cgacagcatc atcgtcatcc
     2581 ttagcctcat ggagctgggc ctgtcccgca tgagcaactt gtcggtgctg cgctccttcc
     2641 gcctgctgcg ggtcttcaag ctggccaaat catggcccac cctgaacaca ctcatcaaga
     2701 tcatcgggaa ctcagtgggg gcactgggga acctgacact ggtgctagcc atcatcgtgt
     2761 tcatctttgc tgtggtgggc atgcagctct ttggcaagaa ctactcggag ctgagggaca
     2821 gcgactcagg cctgctgcct cgctggcaca tgatggactt ctttcatgcc ttcctcatca
     2881 tcttccgcat cctctgtgga gagtggatcg agaccatgtg ggactgcatg gaggtgtcgg
     2941 ggcagtcatt atgcctgctg gtcttcttgc ttgttatggt cattggcaac cttgtggtcc
     3001 tgaatctctt cctggccttg ctgctcagct ccttcagtgc agacaacctc acagcccctg
     3061 atgaggacag agagatgaac aacctccagc tggccctggc ccgcatccag aggggcctgc
     3121 gctttgtcaa gcggaccacc tgggatttct gctgtggtct cctgcggcag cggcctcaga
     3181 agcccgcagc ccttgccgcc cagggccagc tgcccagctg cattgccacc ccctactccc
     3241 cgccaccccc agagacggag aaggtgcctc ccacccgcaa ggaaacacgg tttgaggaag
     3301 gcgagcaacc aggccagggc acccccgggg atccagagcc cgtgtgtgtg cccatcgctg
     3361 tggccgagtc agacacagat gaccaagaag aagatgagga gaacagcctg ggcacggagg
     3421 aggagtccag caagcaggaa tcccagcctg tgtccggtgg cccagaggcc cctccggatt
     3481 ccaggacctg gagccaggtg tcagcgactg cctcctctga ggccgaggcc agtgcatctc
     3541 aggccgactg gcggcagcag tggaaagcgg aaccccaggc cccagggtgc ggtgagaccc
     3601 cagaggacag ttgctccgag ggcagcacag cagacatgac caacaccgct gagctcctgg
     3661 agcagatccc tgacctcggc caggatgtca aggacccaga ggactgcttc actgaaggct
     3721 gtgtccggcg ctgtccctgc tgtgcggtgg acaccacaca ggccccaggg aaggtctggt
     3781 ggcggttgcg caagacctgc taccacatcg tggagcacag ctggttcgag acattcatca
     3841 tcttcatgat cctactcagc agtggagcgc tggccttcga ggacatctac ctagaggagc
     3901 ggaagaccat caaggttctg cttgagtatg ccgacaagat gttcacatat gtcttcgtgc
     3961 tggagatgct gctcaagtgg gtggcctacg gcttcaagaa gtacttcacc aatgcctggt
     4021 gctggctcga cttcctcatc gtagacgtct ctctggtcag cctggtggcc aacaccctgg
     4081 gctttgccga gatgggcccc atcaagtcac tgcggacgct gcgtgcactc cgtcctctga
     4141 gagctctgtc acgatttgag ggcatgaggg tggtggtcaa tgccctggtg ggcgccatcc
     4201 cgtccatcat gaacgtcctc ctcgtctgcc tcatcttctg gctcatcttc agcatcatgg
     4261 gcgtgaacct ctttgcgggg aagtttggga ggtgcatcaa ccagacagag ggagacttgc
     4321 ctttgaacta caccatcgtg aacaacaaga gccagtgtga gtccttgaac ttgaccggag
     4381 aattgtactg gaccaaggtg aaagtcaact ttgacaacgt gggggccggg tacctggccc
     4441 ttctgcaggt ggcaacattt aaaggctgga tggacattat gtatgcagct gtggactcca
     4501 gggggtatga agagcagcct cagtgggaat acaacctcta catgtacatc tattttgtca
     4561 ttttcatcat ctttgggtct ttcttcaccc tgaacctctt tattggtgtc atcattgaca
     4621 acttcaacca acagaagaaa aagttagggg gccaggacat cttcatgaca gaggagcaga
     4681 agaagtacta caatgccatg aagaagctgg gctccaagaa gccccagaag cccatcccac
     4741 ggcccctgaa caagtaccag ggcttcatat tcgacattgt gaccaagcag gcctttgacg
     4801 tcaccatcat gtttctgatc tgcttgaata tggtgaccat gatggtggag acagatgacc
     4861 aaagtcctga gaaaatcaac atcttggcca agatcaacct gctctttgtg gccatcttca
     4921 caggcgagtg tattgtcaag ctggctgccc tgcgccacta ctacttcacc aacagctgga
     4981 atatcttcga cttcgtggtt gtcatcctct ccatcgtggg cactgtgctc tcggacatca
     5041 tccagaagta cttcttctcc ccgacgctct tccgagtcat ccgcctggcc cgaataggcc
     5101 gcatcctcag actgatccga ggggccaagg ggatccgcac gctgctcttt gccctcatga
     5161 tgtccctgcc tgccctcttc aacatcgggc tgctgctctt cctcgtcatg ttcatctact
     5221 ccatctttgg catggccaac ttcgcttatg tcaagtggga ggctggcatc gacgacatgt
     5281 tcaacttcca gaccttcgcc aacagcatgc tgtgcctctt ccagatcacc acgtcggccg
     5341 gctgggatgg cctcctcagc cccatcctca acactgggcc gccctactgc gaccccactc
     5401 tgcccaacag caatggctct cggggggact gcgggagccc agccgtgggc atcctcttct
     5461 tcaccaccta catcatcatc tccttcctca tcgtggtcaa catgtacatt gccatcatcc
     5521 tggagaactt cagcgtggcc acggaggaga gcaccgagcc cctgagtgag gacgacttcg
     5581 atatgttcta tgagatctgg gagaaatttg acccagaggc cactcagttt attgagtatt
     5641 cggtcctgtc tgactttgcc gatgccctgt ctgagccact ccgtatcgcc aagcccaacc
     5701 agataagcct catcaacatg gacctgccca tggtgagtgg ggaccgcatc cattgcatgg
     5761 acattctctt tgccttcacc aaaagggtcc tgggggagtc tggggagatg gacgccctga
     5821 agatccagat ggaggagaag ttcatggcag ccaacccatc caagatctcc tacgagccca
     5881 tcaccaccac actccggcgc aagcacgaag aggtgtcggc catggttatc cagagagcct
     5941 tccgcaggca cctgctgcaa cgctctttga agcatgcctc cttcctcttc cgtcagcagg
     6001 cgggcagcgg cctctccgaa gaggatgccc ctgagcgaga gggcctcatc gcctacgtga
     6061 tgagtgagaa cttctcccga ccccttggcc caccctccag ctcctccatc tcctccactt
     6121 ccttcccacc ctcctatgac agtgtcacta gagccaccag cgataacctc caggtgcggg
     6181 ggtctgacta cagccacagt gaagatctcg ccgacttccc cccttctccg gacagggacc
     6241 gtgagtccat cgtgtgagcc tcggcctggc tggccaggac acactgaaaa gcagcctttt
     6301 tcaccatggc aaacctaaat gcagtcagtc acaaaccagc ctggggcctt cctggctttg
     6361 ggagtaagaa atgggcctca gccccgcgga tcaaccaggc agagttctgt ggcgccgcgt
     6421 ggacagccgg agcagttggc ctgtgcttgg aggcctcaga tagacctgtg acctggtctg
     6481 gtcaggcaat gccctgcggc tctggaaagc aacttcatcc cagctgctga ggcgaaatat
     6541 aaaactgaga ctgtatatgt tgtgaatggg ctttcataaa tttattatat ttgatatttt
     6601 tttacttgag caaagaacta aggatttttc catggacatg ggcagcaatt cacgctgtct
     6661 cttcttaacc ctgaacaaga gtgtctatgg agcagccgga agtctgttct caaagcagaa
     6721 gtggaatcca gtgtggctcc cacaggtctt cactgcccag gggtcgaatg gggtccccct
     6781 cccacttgac ctgagatgct gggagggctg aacccccact cacacaagca cacacacaca
     6841 gtcctcacac acggaggcca gacacaggcc gtgggaccca ggctcccagc ctaagggaga
     6901 caggcctttc cctgccggcc ccccaaggat ggggttcttg tccacggggc tcactctggc
     6961 cccctattgt ctccaaggtc ccattttccc cctgtgtttt cacgcaggtc atattgtcag
     7021 tcctacaaaa ataaaaggct tccagaggag agtggcctgg gtcccagggc tggccctagg
     7081 cactgatagt tgccttttct tcccctcctg taagagtatt aacaaaacca aaggacacaa
     7141 gggtgcaagc cccattcacg gcctggcatg cagcttgtcc ttgctcctgg aacctggcag
     7201 gccctgccca gccagccatc ggaagagagg gctgagccat gggggtttgg ggctaagaag
     7261 ttcaccagcc ctgagccatg gcggcccctc agcctgcctg aagagaggaa actggcgatc
     7321 tcccagggct ctctggacca tacgcggagg agttttctgt gtggtctcca gctcctctcc
     7381 agacacagag acatgggagt ggggagcgga gcttggccct gcgccctgtg cagggaaagg
     7441 gatggtcagg cccagttctc gtgcccttag aggggaatga accatggcac ctttgagaga
     7501 gggggcactg tggtcaggcc cagcctctct ggctcagccc gggatcctga tggcacccac
     7561 acagaggacc tctttggggc aagatccagg tggtcccata ggtcttgtga aaaggctttt
     7621 tcagggaaaa atattttact agtccaatca cccccaggac ctcttcagct gctgacaatc
     7681 ctatttagca tatgcaaatc ttttaacata gagaactgtc accctgaggt aacagggtca
     7741 actggcgaag cctgagcagg caggggcttg gctgccccat tccagctctc ccatggagcc
     7801 cctccaccgg gcgcatgcct cccaggccac ctcagtctca cctgccggct ctgggctggc
     7861 tgctcctaac ctacctcgcc gagctgtcgg agggctggac atttgtggca gtgctgaagg
     7921 gggcattgcc ggcgagtaaa gtattatgtt tcttcttgtc accccagttc ccttggtggc
     7981 aaccccagac ccaacccatg cccctgacag atctagttct cttctcctgt gttccctttg
     8041 agtccagtgt gggacacggt ttaactgtcc cagcgacatt tctccaagtg gaaatcctat
     8101 ttttgtagat ctccatgctt tgctctcaag gcttggagag gtatgtgccc ctcctgggtg
     8161 ctcaccgcct gctacacagg caggaatgcg gttgggaggc aggtcgggct gccagcccag
     8221 ctggccggaa ggagactgtg gtttttgtgt gtgtggacag cccgggagct ttgagacagg
     8281 tgcctggggc tggctgcaga cggtgtggtt gggggtggga ggtgagctag acccaaccct
     8341 tagcttttag cctggctgtc acctttttaa tttccagaac tgcacaatga ccagcaggag
     8401 ggaaggacag acatcaagtg ccagatgttg tctgaactaa tcgagcactt ctcaccaaac
     8461 ttcatgtata aataaaatac atatttttaa aacaaaccaa taaatggctt acatga
//
LOCUS       NM_000336               2560 bp    mRNA    linear   PRI 26-MAR-2023
DEFINITION  Homo sapiens sodium channel epithelial 1 subunit beta (SCNN1B),
            transcript variant 1, mRNA.
ACCESSION   NM_000336
VERSION     NM_000336.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2560)
  AUTHORS   Mohammadifard N, Moazeni F, Azizian-Farsani F, Gharipour M, Khosravi
            E, Sadeghian L, Mansouri A, Shirani S and Sarrafzadegan N.
  TITLE     Genetic variation in salt taste receptors impact salt intake and
            blood pressure
  JOURNAL   Sci Rep 13 (1), 4037 (2023)
   PUBMED   36899055
  REMARK    GeneRIF: Genetic variation in salt taste receptors impact salt
            intake and blood pressure. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2560)
  AUTHORS   Qu Y, Lu Y, Zhang D, Liu X, Fan P, Chen J, Zhang H, Yang K, Tian T,
            Zhou Y, Zhang Q, Zhang Y, Wang L, Huang Z, Liu Y, Hu A and Zhou X.
  TITLE     Identification of a novel frameshift mutation in the SCNN1B causing
            Liddle syndrome
  JOURNAL   Sci Bull (Beijing) 68 (4), 383-387 (2023)
   PUBMED   36774301
  REMARK    GeneRIF: Identification of a novel frameshift mutation in the SCNN1B
            causing Liddle syndrome.
REFERENCE   3  (bases 1 to 2560)
  AUTHORS   Qian Y, Zhou L, Luk STY, Xu J, Li W, Gou H, Chen H, Kang W, Yu J and
            Wong CC.
  TITLE     The sodium channel subunit SCNN1B suppresses colorectal cancer via
            suppression of active c-Raf and MAPK signaling cascade
  JOURNAL   Oncogene 42 (8), 601-612 (2023)
   PUBMED   36564468
  REMARK    GeneRIF: The sodium channel subunit SCNN1B suppresses colorectal
            cancer via suppression of active c-Raf and MAPK signaling cascade.
REFERENCE   4  (bases 1 to 2560)
  AUTHORS   Blobner BM, Kirabo A, Kashlan OB, Sheng S, Arnett DK, Becker LC,
            Boerwinkle E, Carlson JC, Gao Y, Gibbs RA, He J, Irvin MR, Kardia
            SLR, Kelly TN, Kooperberg C, McGarvey ST, Menon VK, Montasser ME,
            Naseri T, Redline S, Reiner AP, Reupena MS, Smith JA, Sun X, Vaidya
            D, Viaud-Martinez KA, Weeks DE, Yanek LR, Zhu X, Minster RL and
            Kleyman TR.
  CONSRTM   NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium*
  TITLE     Rare Variants in Genes Encoding Subunits of the Epithelial Na+
            Channel Are Associated With Blood Pressure and Kidney Function
  JOURNAL   Hypertension 79 (11), 2573-2582 (2022)
   PUBMED   36193739
  REMARK    GeneRIF: Rare Variants in Genes Encoding Subunits of the Epithelial
            Na[+] Channel Are Associated With Blood Pressure and Kidney
            Function.
REFERENCE   5  (bases 1 to 2560)
  AUTHORS   Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B,
            Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L,
            Balascakova M, Hjelte L, Lebecque P, Radojkovic D, Castellani C,
            Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I,
            Girodon E, Ferec C, Claustres M, Tummler B, Cassiman JJ, Korbmacher
            C and Cuppens H.
  TITLE     Mutations in the amiloride-sensitive epithelial sodium channel in
            patients with cystic fibrosis-like disease
  JOURNAL   Hum Mutat 30 (7), 1093-1103 (2009)
   PUBMED   19462466
REFERENCE   6  (bases 1 to 2560)
  AUTHORS   Saxena A, Hanukoglu I, Strautnieks SS, Thompson RJ, Gardiner RM and
            Hanukoglu A.
  TITLE     Gene structure of the human amiloride-sensitive epithelial sodium
            channel beta subunit
  JOURNAL   Biochem Biophys Res Commun 252 (1), 208-213 (1998)
   PUBMED   9813171
REFERENCE   7  (bases 1 to 2560)
  AUTHORS   Waldmann R, Champigny G, Bassilana F, Voilley N and Lazdunski M.
  TITLE     Molecular cloning and functional expression of a novel
            amiloride-sensitive Na+ channel
  JOURNAL   J Biol Chem 270 (46), 27411-27414 (1995)
   PUBMED   7499195
REFERENCE   8  (bases 1 to 2560)
  AUTHORS   Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y,
            Canessa C, Iwasaki T, Rossier B and Lifton RP.
  TITLE     Hypertension caused by a truncated epithelial sodium channel gamma
            subunit: genetic heterogeneity of Liddle syndrome
  JOURNAL   Nat Genet 11 (1), 76-82 (1995)
   PUBMED   7550319
REFERENCE   9  (bases 1 to 2560)
  AUTHORS   Voilley N, Bassilana F, Mignon C, Merscher S, Mattei MG, Carle GF,
            Lazdunski M and Barbry P.
  TITLE     Cloning, chromosomal localization, and physical linkage of the beta
            and gamma subunits (SCNN1B and SCNN1G) of the human epithelial
            amiloride-sensitive sodium channel
  JOURNAL   Genomics 28 (3), 560-565 (1995)
   PUBMED   7490094
REFERENCE   10  (bases 1 to 2560)
  AUTHORS   McDonald FJ, Price MP, Snyder PM and Welsh MJ.
  TITLE     Cloning and expression of the beta- and gamma-subunits of the human
            epithelial sodium channel
  JOURNAL   Am J Physiol 268 (5 Pt 1), C1157-C1163 (1995)
   PUBMED   7762608
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: MH503766.1, BC036352.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000343070.7/ ENSP00000345751.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU105979.1, BC036352.1 and
            L36593.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000336.2.
            Summary: Nonvoltage-gated, amiloride-sensitive, sodium channels
            control fluid and electrolyte transport across epithelia in many
            organs. These channels are heteromeric complexes consisting of 3
            subunits: alpha, beta, and gamma. This gene encodes the beta
            subunit, and mutations in this gene have been associated with
            pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome.
            [provided by RefSeq, Apr 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2560
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.2"
     gene            1..2560
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /note="sodium channel epithelial 1 subunit beta"
                     /db_xref="GeneID:6338"
                     /db_xref="HGNC:HGNC:10600"
                     /db_xref="MIM:600760"
     CDS             145..2067
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /note="isoform 1 is encoded by transcript variant 1; sodium
                     channel epithelial 1 beta subunit; nasal epithelial sodium
                     channel beta subunit; amiloride-sensitive sodium channel
                     subunit beta 1; epithelial sodium channel beta-2 subunit;
                     epithelial sodium channel beta-3 subunit; epithelial Na(+)
                     channel subunit beta; nonvoltage-gated sodium channel 1
                     subunit beta; sodium channel, non-voltage-gated 1, beta
                     subunit; mutant sodium channel epithelial 1 beta subunit"
                     /codon_start=1
                     /product="amiloride-sensitive sodium channel subunit beta
                     isoform 1"
                     /protein_id="NP_000327.2"
                     /db_xref="CCDS:CCDS10609.1"
                     /db_xref="GeneID:6338"
                     /db_xref="HGNC:HGNC:10600"
                     /db_xref="MIM:600760"
                     /translation="MHVKKYLLKGLHRLQKGPGYTYKELLVWYCDNTNTHGPKRIICEG
                     PKKKAMWFLLTLLFAALVCWQWGIFIRTYLSWEVSVSLSVGFKTMDFPAVTICNASPFK
                     YSKIKHLLKDLDELMEAVLERILAPELSHANATRNLNFSIWNHTPLVLIDERNPHHPMV
                     LDLFGDNHNGLTSSSASEKICNAHGCKMAMRLCSLNRTQCTFRNFTSATQALTEWYILQ
                     ATNIFAQVPQQELVEMSYPGEQMILACLFGAEPCNYRNFTSIFYPHYGNCYIFNWGMTE
                     KALPSANPGTEFGLKLILDIGQEDYVPFLASTAGVRLMLHEQRSYPFIRDEGIYAMSGT
                     ETSIGVLVDKLQRMGEPYSPCTVNGSEVPVQNFYSDYNTTYSIQACLRSCFQDHMIRNC
                     NCGHYLYPLPRGEKYCNNRDFPDWAHCYSDLQMSVAQRETCIGMCKESCNDTQYKMTIS
                     MADWPSEASEDWIFHVLSQERDQSTNITLSRKGIVKLNIYFQEFNYRTIEESAANNIVW
                     LLSNLGGQFGFWMGGSVLCLIEFGEIIIDFVWITIIKLVALAKSLRQRRAQASYAGPPP
                     TVAELVEAHTNFGFQPDTAPRSPNTGPYPSEQALPIPGTPPPNYDSLRLQPLDVIESDS
                     EGDAI"
     misc_feature    295..357
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /note="propagated from UniProtKB/Swiss-Prot (P51168.2);
                     transmembrane region"
     misc_feature    922..924
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51168.2); glycosylation site"
     misc_feature    1741..1803
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /note="propagated from UniProtKB/Swiss-Prot (P51168.2);
                     transmembrane region"
     misc_feature    1912..2064
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /note="propagated from UniProtKB/Swiss-Prot (P51168.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2041..2043
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9WU38; propagated from
                     UniProtKB/Swiss-Prot (P51168.2); phosphorylation site"
     misc_feature    2047..2049
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9WU38; propagated from
                     UniProtKB/Swiss-Prot (P51168.2); phosphorylation site"
     regulatory      2540..2545
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /note="hexamer: AATAAA"
     polyA_site      2560
                     /gene="SCNN1B"
                     /gene_synonym="BESC1; beta-ENaC; beta-NaCH; ENaCb;
                     ENaCbeta; LIDLS1; PHA1B2; SCNEB"
                     /note="major polyA site"
ORIGIN
        1 agtcggtctc gccgcgctcg ccgggtgtcc cagtgtcacc aacactcggc cgccgccgcc
       61 agcttggcgc gcaccgccgc ctccgccacc gccgacagcg cgcatcctcc gtgtccccgc
      121 tccgccgccc gagcaggtgc cactatgcac gtgaagaagt acctgctgaa gggcctgcat
      181 cggctgcaga agggccccgg ctacacgtac aaggagctgc tggtgtggta ctgcgacaac
      241 accaacaccc acggccccaa gcgcatcatc tgtgaggggc ccaagaagaa agccatgtgg
      301 ttcctgctca ccctgctctt cgccgccctc gtctgctggc agtggggcat cttcatcagg
      361 acctacttga gctgggaggt cagcgtctcc ctctccgtag gcttcaagac catggacttc
      421 cctgccgtca ccatctgcaa tgctagcccc ttcaagtatt ccaaaatcaa gcatttgctg
      481 aaggacctgg atgagctgat ggaagctgtc ctggagagaa tcctggctcc tgagctaagc
      541 catgccaatg ccaccaggaa cctgaacttc tccatctgga accacacacc cctggtcctt
      601 attgatgaac ggaaccccca ccaccccatg gtccttgatc tctttggaga caaccacaat
      661 ggcttaacaa gcagctcagc atcagaaaag atctgtaatg cccacgggtg caaaatggcc
      721 atgagactat gtagcctcaa caggacccag tgtaccttcc ggaacttcac cagtgctacc
      781 caggcattga cagagtggta catcctgcag gccaccaaca tctttgcaca ggtgccacag
      841 caggagctag tagagatgag ctaccccggc gagcagatga tcctggcctg cctattcgga
      901 gctgagccct gcaactaccg gaacttcacg tccatcttct accctcacta tggcaactgt
      961 tacatcttca actggggcat gacagagaag gcacttcctt cggccaaccc tggaactgaa
     1021 ttcggcctga agttgatcct ggacataggc caggaagact acgtcccctt ccttgcgtcc
     1081 acggccgggg tcaggctgat gcttcacgag cagaggtcat accccttcat cagagatgag
     1141 ggcatctacg ccatgtcggg gacagagacg tccatcgggg tactcgtgga caagcttcag
     1201 cgcatggggg agccctacag cccgtgcacc gtgaatggtt ctgaggtccc cgtccaaaac
     1261 ttctacagtg actacaacac gacctactcc atccaggcct gtcttcgctc ctgcttccaa
     1321 gaccacatga tccgtaactg caactgtggc cactacctgt acccactgcc ccgtggggag
     1381 aaatactgca acaaccggga cttcccagac tgggcccatt gctactcaga tctacagatg
     1441 agcgtggcgc agagagagac ctgcattggc atgtgcaagg agtcctgcaa tgacacccag
     1501 tacaagatga ccatctccat ggctgactgg ccttctgagg cctccgagga ctggattttc
     1561 cacgtcttgt ctcaggagcg ggaccaaagc accaatatca ccctgagcag gaagggaatt
     1621 gtcaagctca acatctactt ccaagaattt aactatcgca ccattgaaga atcagcagcc
     1681 aataacatcg tctggctgct ctcgaatctg ggtggccagt ttggcttctg gatggggggc
     1741 tctgtgctgt gcctcatcga gtttggggag atcatcatcg actttgtgtg gatcaccatc
     1801 atcaagctgg tggccttggc caagagccta cggcagcggc gagcccaagc cagctacgct
     1861 ggcccaccgc ccaccgtggc cgagctggtg gaggcccaca ccaactttgg cttccagcct
     1921 gacacggccc cccgcagccc caacactggg ccctacccca gtgagcaggc cctgcccatc
     1981 ccaggcaccc cgccccccaa ctatgactcc ctgcgtctgc agccgctgga cgtcatcgag
     2041 tctgacagtg agggtgatgc catctaaccc tgcccctgcc caccccgggc ggctgaaact
     2101 cactgagcag ccaagactgt tgcccgaggc ctcactgtat ggtgccctct ccaaagggtc
     2161 gggagggtag ctctccaggc cagagcttgt gtccttcaac agagaggcca gcggcaactg
     2221 gtccgttact ggccaagggc tctgtagaat cacggtgctg gtacaggatg caggaataaa
     2281 ttgtatcttc acctggttcc taccctcgtc cctacctgtc ctgatcctgg tcctgaagac
     2341 ccctcggaac accctctcct ggtggcaggc cacttccctc ccagtgccag tctccatcca
     2401 ccccagagag gaacaggcgg gtgggccatg tggttttctc cttcctggcc ttggctggcc
     2461 tctggggcag gggtggtgga gagatggaag ggcatcaggt gtagggaccc tgccaagtgg
     2521 cacctgattt actctagaaa ataaaagtag aaaatactga
//
LOCUS       NM_000337               9383 bp    mRNA    linear   PRI 19-MAR-2023
DEFINITION  Homo sapiens sarcoglycan delta (SGCD), transcript variant 1, mRNA.
ACCESSION   NM_000337
VERSION     NM_000337.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9383)
  AUTHORS   Li J, Yang S, Pu Z, Dai J, Jiang T, Du F, Jiang Z, Cheng Y, Dai G,
            Wang J, Qi J, Cao L, Cheng X, Ren C, Li X and Qin Y.
  TITLE     Whole-exome sequencing identifies SGCD and ACVRL1 mutations
            associated with total anomalous pulmonary venous return (TAPVR) in
            Chinese population
  JOURNAL   Oncotarget 8 (17), 27812-27819 (2017)
   PUBMED   28412737
  REMARK    GeneRIF: Study identified 2 non-synonymous missense mutations:
            c.C652T, p.R218W in ACVRL1, c.C717G, p.D239E in SGCD in Chinese
            population with total anomalous pulmonary venous return.
REFERENCE   2  (bases 1 to 9383)
  AUTHORS   Campbell MD, Witcher M, Gopal A and Michele DE.
  TITLE     Dilated cardiomyopathy mutations in delta-sarcoglycan exert a
            dominant-negative effect on cardiac myocyte mechanical stability
  JOURNAL   Am J Physiol Heart Circ Physiol 310 (9), H1140-H1150 (2016)
   PUBMED   26968544
  REMARK    GeneRIF: Dilated cardiomyopathy mutations in delta-sarcoglycan can
            exert a dominant negative effect on dystrophin-glycoprotein complex
            function leading to myocardial mechanical instability that may
            underlie the pathogenesis of delta-sarcoglycan-associated DCM.
REFERENCE   3  (bases 1 to 9383)
  AUTHORS   Chen J, Jin Y, Wang H, Wei S, Chen D, Ying L, Zhou Q, Li G, Li J,
            Gao J, Kato N, Hu W, Li Y and Wang Y.
  TITLE     A Haplotype of Two Novel Polymorphisms in delta-Sarcoglycan Gene
            Increases Risk of Dilated Cardiomyopathy in Mongoloid Population
  JOURNAL   PLoS One 10 (12), e0145602 (2015)
   PUBMED   26720722
  REMARK    GeneRIF: haplotype -_G composed of c.-100~-110 and A848G confers
            higher susceptibility to dilated cardiomyopathy in the Mongoloid
            population. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 9383)
  AUTHORS   Ye R, Yang W, Yuan Y and Deng X.
  TITLE     The CC genotype of the delta-sarcoglycan gene polymorphism
            rs13170573 is associated with obstructive sleep apnea in the Chinese
            population
  JOURNAL   PLoS One 9 (12), e114160 (2014)
   PUBMED   25474115
  REMARK    GeneRIF: CC genotype of the delta-sarcoglycan gene polymorphism
            rs13170573 is associated with obstructive sleep apnea in the Chinese
            population Publication Status: Online-Only
REFERENCE   5  (bases 1 to 9383)
  AUTHORS   Jung D, Duclos F, Apostol B, Straub V, Lee JC, Allamand V, Venzke
            DP, Sunada Y, Moomaw CR, Leveille CJ, Slaughter CA, Crawford TO,
            McPherson JD and Campbell KP.
  TITLE     Characterization of delta-sarcoglycan, a novel component of the
            oligomeric sarcoglycan complex involved in limb-girdle muscular
            dystrophy
  JOURNAL   J Biol Chem 271 (50), 32321-32329 (1996)
   PUBMED   8943294
REFERENCE   6  (bases 1 to 9383)
  AUTHORS   Nigro V, de Sa Moreira E, Piluso G, Vainzof M, Belsito A, Politano
            L, Puca AA, Passos-Bueno MR and Zatz M.
  TITLE     Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is
            caused by a mutation in the delta-sarcoglycan gene
  JOURNAL   Nat Genet 14 (2), 195-198 (1996)
   PUBMED   8841194
REFERENCE   7  (bases 1 to 9383)
  AUTHORS   Nigro V, Piluso G, Belsito A, Politano L, Puca AA, Papparella S,
            Rossi E, Viglietto G, Esposito MG, Abbondanza C, Medici N, Molinari
            AM, Nigro G and Puca GA.
  TITLE     Identification of a novel sarcoglycan gene at 5q33 encoding a
            sarcolemmal 35 kDa glycoprotein
  JOURNAL   Hum Mol Genet 5 (8), 1179-1186 (1996)
   PUBMED   8842738
REFERENCE   8  (bases 1 to 9383)
  AUTHORS   Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK and Zatz M.
  TITLE     Linkage analysis in autosomal recessive limb-girdle muscular
            dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and
            indicates that there is at least one more subtype of AR LGMD
  JOURNAL   Hum Mol Genet 5 (6), 815-820 (1996)
   PUBMED   8776597
REFERENCE   9  (bases 1 to 9383)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301582
REFERENCE   10  (bases 1 to 9383)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301486
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC020740.1, SRR1803615.106454.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000337851.9/ ENSP00000338343.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ434817.1, BC020740.1,
            BX537948.1, AC025434.6 and BQ446019.1.
            On Jun 5, 2020 this sequence version replaced NM_000337.5.
            Summary: The protein encoded by this gene is one of the four known
            components of the sarcoglycan complex, which is a subcomplex of the
            dystrophin-glycoprotein complex (DGC). DGC forms a link between the
            F-actin cytoskeleton and the extracellular matrix. This protein is
            expressed most abundantly in skeletal and cardiac muscle. Mutations
            in this gene have been associated with autosomal recessive
            limb-girdle muscular dystrophy and dilated cardiomyopathy.
            Alternatively spliced transcript variants encoding distinct
            isoforms have been observed for this gene. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (1, also known as SGCD1), encodes
            the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..9383
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.2-q33.3"
     gene            1..9383
                     /gene="SGCD"
                     /gene_synonym="35DAG; CMD1L; DAGD; LGMDR6; SG-delta; SGCDP;
                     SGD"
                     /note="sarcoglycan delta"
                     /db_xref="GeneID:6444"
                     /db_xref="HGNC:HGNC:10807"
                     /db_xref="MIM:601411"
     misc_feature    95..97
                     /gene="SGCD"
                     /gene_synonym="35DAG; CMD1L; DAGD; LGMDR6; SG-delta; SGCDP;
                     SGD"
                     /note="upstream in-frame stop codon"
     CDS             113..985
                     /gene="SGCD"
                     /gene_synonym="35DAG; CMD1L; DAGD; LGMDR6; SG-delta; SGCDP;
                     SGD"
                     /note="isoform 1 is encoded by transcript variant 1;
                     placental delta sarcoglycan; dystrophin associated
                     glycoprotein, delta sarcoglycan; sarcoglycan, delta (35kDa
                     dystrophin-associated glycoprotein); delta-SG; 35 kDa
                     dystrophin-associated glycoprotein"
                     /codon_start=1
                     /product="delta-sarcoglycan isoform 1"
                     /protein_id="NP_000328.2"
                     /db_xref="CCDS:CCDS47325.1"
                     /db_xref="GeneID:6444"
                     /db_xref="HGNC:HGNC:10807"
                     /db_xref="MIM:601411"
                     /translation="MMPQEQYTHHRSTMPGSVGPQVYKVGIYGWRKRCLYFFVLLLMIL
                     ILVNLAMTIWILKVMNFTIDGMGNLRITEKGLKLEGDSEFLQPLYAKEIQSRPGNALYF
                     KSARNVTVNILNDQTKVLTQLITGPKAVEAYGKKFEVKTVSGKLLFSADNNEVVVGAER
                     LRVLGAEGTVFPKSIETPNVRADPFKELRLESPTRSLVMEAPKGVEINAEAGNMEATCR
                     TELRLESKDGEIKLDAAKIRLPRLPHGSYTPTGTRQKVFEICVCANGRLFLSQAGAGST
                     CQINTSVCL"
     regulatory      1176..1181
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGCD"
                     /gene_synonym="35DAG; CMD1L; DAGD; LGMDR6; SG-delta; SGCDP;
                     SGD"
                     /note="hexamer: AATATA"
     polyA_site      1194
                     /gene="SGCD"
                     /gene_synonym="35DAG; CMD1L; DAGD; LGMDR6; SG-delta; SGCDP;
                     SGD"
                     /note="major polyA site"
     regulatory      3721..3726
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGCD"
                     /gene_synonym="35DAG; CMD1L; DAGD; LGMDR6; SG-delta; SGCDP;
                     SGD"
                     /note="hexamer: ATTAAA"
     polyA_site      3754
                     /gene="SGCD"
                     /gene_synonym="35DAG; CMD1L; DAGD; LGMDR6; SG-delta; SGCDP;
                     SGD"
     regulatory      9361..9366
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGCD"
                     /gene_synonym="35DAG; CMD1L; DAGD; LGMDR6; SG-delta; SGCDP;
                     SGD"
                     /note="hexamer: AATAAT"
     polyA_site      9383
                     /gene="SGCD"
                     /gene_synonym="35DAG; CMD1L; DAGD; LGMDR6; SG-delta; SGCDP;
                     SGD"
                     /note="major polyA site"
ORIGIN
        1 agagctgctc agcacgccct gggatcgcgg gcggttttca tcggccggtt tgtgaaacgg
       61 acaagagaga gacattactg ccgggagtgt tgagtgaagg gaccaggtgg agatgatgcc
      121 tcaggagcag tacactcacc accggagcac catgcctggc tctgtggggc cacaggtata
      181 caaggtgggg atttatggct ggcggaaacg atgcctgtat ttctttgtcc tgctcctcat
      241 gattttaata ctggtgaact tggccatgac catctggatt ctcaaagtca tgaacttcac
      301 aattgatgga atgggaaacc tgaggatcac agaaaaaggt ctaaagctag aaggagactc
      361 tgaattctta caacctctct acgccaaaga aatccagtcc cgaccaggta atgccctgta
      421 cttcaagtct gccagaaatg ttacagtgaa cattctcaat gaccagacta aagtgctaac
      481 tcagcttata acaggtccaa aagccgtaga agcttatggt aaaaaatttg aggtaaaaac
      541 tgtttctgga aaattgctct tctctgcaga caataatgaa gtggtagtag gagctgaaag
      601 attacgagtt ttaggagcgg agggcacagt gttccctaaa tctatagaaa cacctaatgt
      661 cagggcagac cccttcaaag aactaaggtt ggagtcccca acccggtctc tagtgatgga
      721 ggccccaaaa ggagtggaaa tcaatgcaga agctggcaat atggaagcca cctgcaggac
      781 agagctgaga ctggaatcca aagatggaga gattaagtta gatgctgcga aaatcaggct
      841 acctagactg cctcatggat cctacacgcc tacaggaacg aggcagaagg tcttcgagat
      901 ctgcgtctgc gccaatggga gattattcct gtctcaggca ggagctgggt ccacttgtca
      961 gataaacaca agtgtctgcc tctgaaagac tatccatagt ggacattgtt ggcagcataa
     1021 aggccttttt tggctttaga cactggctgc cagctatttt tactagaaca cagaaagcct
     1081 atcaaagacc ttgtgtgtat gtgtacgtgt gtgtgcgtgc ttgagtgtgt tcgcgtgtgt
     1141 gggtggatat aaatatatat aaatatatat aaataaatat atatatcctc tgtataaaat
     1201 gaggtttcag tacaaaagga accatgggtg accctgcgat atccactgtc attttccatc
     1261 ccatccccac cacctgagtg acagaaatct aaacacacat ccgtcccaac attccccaga
     1321 ccattcagaa tcacacagcg tattaaacac tgacagaatc ttcatctaga tattcgagta
     1381 gcagcatatc ttctctttta gtgtcattac gagggagtga tggcgggaat ctcagtcgca
     1441 ctcaagctct gagacctttg tatcaaaaat aggcatttga tttcctgttt tagctttagt
     1501 aaggctggct aacttccccc tcttcaagct aggaactggc aatgctgtag aagtcagccg
     1561 taggaattca aaatggctgg cctaccttgg ctaccagaca tattggggtt tttgtagttg
     1621 aatgaatgag gaggatgaat ttcagcaaat tttgaactgc tcacccaact tctgctatct
     1681 tgctccctcc aaactcacag attctcctac agtcaaatta ggagctgtaa atcagcacaa
     1741 aataagataa cagctgttcc tcagtgagct ggaagctact taatggcctg atgggcaatg
     1801 aacaaacggg tgatatgtct ctgtttaagg gaaaaatggc ttaaaagctg ttctgttctc
     1861 acttctgact ttaaccaaaa gatttcaacc cacaatgatc aggtcaatca aaatccctaa
     1921 gagcagaact cctaccccaa aagaagcctg gaagtctaat taagagtagc ataaggaacc
     1981 taattatgtt taccatgttt cttgggattg gtgggaaatg tcaaaacatg ccctttattt
     2041 ttaaaggcat tcacaaactc tctgactttg ttcttcttat atattttttc agtgccggga
     2101 tattcatatt cctaaagcca ctattgtgtt ttctctaaga agcactacat gccaccagaa
     2161 ttgtgcactg aaagataata caaactgagt gtctttatga gaatcactgt gtcccctgag
     2221 gcccagcagt acctgcttcc ctgtatgtgg aagcagcacc tcattcccgc catcagctac
     2281 ctctcatcac cccaccttca tcatcatgct ccagggtcac cctggccagc tcttgtgctg
     2341 ggacagggga ttacaccatc tctgttcaaa gagggggaaa tgtgcctatg ccttaagtca
     2401 atgcactcag caaggagaag cacatcttat ttatcttgtt acctatagtt tactttgggt
     2461 gattggaggg gaatgactta gttatgactg gacatcttaa aagctgatag acaagccaaa
     2521 tggctggcag atgatgtgga tttcaaagag cccagaatga actcatcact ggcttagaca
     2581 gtcctggatg ccatttggaa agtagtggcc ctgcaagcct aaatgaagta gtatttgtag
     2641 gcctgggtgg catttggatt tttcttttcc ctcaacaagg ttttactttt tcttacttta
     2701 caagcaaggg aagttttgtg ataggagaga aataaaagat ttgatatttt ttgagatgac
     2761 actcaagcat caggctgaga tttgcacaca tgggatgtaa aagcaagctg tgtgttgctt
     2821 agtcacttac ttagaagtag atggtggggg acagcggcgt gggtcctagc ctggccagtg
     2881 atgctgctgg cgtccagacc ccagactcac tccaagcact cttgttcaat atctcatgca
     2941 gaagagttgg gctggtcact cttaggggtg agaccccgtg attggttggt ttgtagcact
     3001 aaggtctaaa aaggaaaacc ataaaagaca tcagattacg ctggatcagt ataattaata
     3061 ttccataggg ccatgttgcc agaatctgta tgtatcaata cagggttttt ccaagccagg
     3121 aaacgccctc cttggctact aggagcacct atcccatatc attcagataa acaatgatag
     3181 ctacaaagtc atttgtggct agataggtta agacaggtga ttttttaaag tagactgtct
     3241 ttgcattttg ccatctgaag ttcattaatc tttagatgac aaaaaagcaa aaagttccca
     3301 gaacgttttt gcttagattt tgttctaatc accacgtgaa ggaatgagat tagcaccaca
     3361 agtttcatgc caataaaaga gactggtgtg atcccacatg caaaatttaa tcctaagggt
     3421 agtgagatca caaacagaat aaaaataaga gcaatcaacc atataaatca agtacctatt
     3481 gggaacagac ataacattca atttttcatt tatgctaagt gaccacagta tacaaagtaa
     3541 taagcaggaa atttgatatg ggttaaatta tgcattttgt tcagattttg gaaattggta
     3601 tgcattataa gtttctcaat gtacatcttt ttatcccaac accctcaaac tagaatattt
     3661 gtcagtggtc aagagaaaaa attttacctg aattcttggg ggccggcggg gagcttttac
     3721 attaaaaatc tactaacgcc tactttttaa aaaatgagat tctttctaat ctttatatat
     3781 gacattttct agacaatcgc acctttgggt atattaaaca gctggtatca taacaaagaa
     3841 tccaaatgaa ccttcaatat actagaagtt ctagtaggtt aatattgttc agaagatttt
     3901 tacaaattaa aaactgattt ccaaatatgt tcaacattta cttctatttg atatctgctc
     3961 aagaagtcat agaagtcttg ggaaactatt cgagtatcac agaggttttc aaaagccctt
     4021 atggtgacat ctacctaggt aaaagcctga catgtggctt tataattgtt atgttaccca
     4081 agggataaac ttgaactggc tttgaacatc ctttaggtca ttttctcttt ggataatttt
     4141 catcgcatat ccagcaacta tagaccaaag tttgcttaag gtttgaccct agagcagagg
     4201 tgggcaaact atgacctgga aaccaaatct gacttaccac cttttcctgt agttaaagtt
     4261 ttattgtcac atagccacat acattcattt acatgttttc tgattttaca ctacagcagc
     4321 aggatggagt agttgtgtca gagactatgt atcccacaaa gcatagatta cttactattt
     4381 agtcctttac aggcaaagtt tcctcacccc tgacctagag gtttttgtgg tatgcattgg
     4441 atatagcagg aaagaaagca catttccaaa cagcagggag taagcttaca tttctgtgta
     4501 ggtttgggaa tatagttact tggcaaagtc tttcaggaag gaagcccttc cttatgttac
     4561 atgtggaaag cctgccttcc aagacatgtg gaagtaattg atccacctgc cagagaaaca
     4621 caggctcaga ggatgcctgg gaacagggag gatgggatta gtggaagctt aatggaaaag
     4681 gaaagttatg atcctccaag acccttaatt gatagaccat accaggttct gcaggtcagc
     4741 atcattgtgt aatgagagtg aagtagggga ccctgtggtt caaccttaga atctgtttcc
     4801 tgtaggctct ttctgctgtc tatattcatt aaagttttcc acttcaccct cccatagtct
     4861 agagggatgc ccattccatg gtcctccaga gaatagtttt gacttaacat gtctgtttag
     4921 cccacatcac gtcagttatc aacaccgcca ctgtgcttac tgttcctaca gccacaccag
     4981 gcttgaagag ttagtgagac caacaaataa ttggaagtat tggaaaaagc aaaatacatg
     5041 gggacaaaaa aaatacagtg aaattctttt tatcaaactg atgctgtgag aaaccagatg
     5101 aatgccagtt tggctttatt tctaagaatc tgggtcttca ttctctggtg tagaaggaat
     5161 gcaaaaaact ataacaacaa caacaaaaac atattttgaa aagacatatt ctgacatctc
     5221 tgcttgtgtg tggtaaggca ggttcctatc agacatttat ccctttggtc aagatccctt
     5281 ttgctcatcc agggtttcat actcaatatc gcttaaaaaa aaaaaagtat cagctaggga
     5341 tgactctgga agtatgagta tcatggtggg gaggaaggaa ttttttttaa atgtaaatga
     5401 cccccattta ccagacccta atcaaagtca cttaagggaa tccctcagcc ttttatttgg
     5461 aaacagttga aataaactgg cagcagctag atcagagtat cttgctttat tttataaagg
     5521 ccaaaggtag tatgaagttt ggaccaaaaa ggtaaataga tccattccag cacctgatac
     5581 tgatttttca aggctctatg aaaggtcaaa aatttcatta aacaagacca gttctccctc
     5641 ttccccctgt cccaagaaat cttaggcatg aaaaggataa ggaaacagct cctggaatga
     5701 tacatttgca tagtgcccta gtagcaggtt gggaaaaagt tataatataa gaaacaacct
     5761 tcgaaaacag gccttttatc tcaaagataa aatgtctttc ttgtggtctt tcatcactat
     5821 ctccgtggtg gaaggttccc ctagttccaa catatttcca ttaaaatagt caaagccacg
     5881 gcattgggat gtcagatgcc tctctttctt tgtggtaatc ggaatttaaa attatacagt
     5941 tgcctctgaa tttctcatgc acaaagccaa accactgata agagataaag cagtctgaag
     6001 cctgctgctt cagccagcac agcacaccac acacgctcgc actttcaaaa gcaatgtgat
     6061 ttctatggtt cttaaaagct ttcttcataa gggagtccct gaaatttctc aaggcaggtt
     6121 tgaatggcaa agggaaaata attacttgtg ggaggtcctc cttttgagta ttgttagagc
     6181 atacatgtaa aagaaaataa cctttttggg gcaactcatg ctcacacatg ctgttttctt
     6241 tggttctccc cctaccttcc ttttgtagat attgacagaa taggaggaaa tgagcatcct
     6301 tatttgagaa agagcaagaa tgtcatgagc ccttgatgca atagtaagtg tgatgtcatc
     6361 atacagtgtt aatgatgcta tcaaatccat caataaacag tctcaaacct tccaacaaca
     6421 gtgctcactg ctgctcctca acttcagccc agcaagcagt aatatcatca cccattttga
     6481 gatatgcagg tggaatagaa caaagaaaca gccactgtaa tcgagaagca tgtttactgt
     6541 ctaaatccac ctgttgcagt aggaagccag agtggggttc caaatgcctc attaagtatg
     6601 tggacagcct cactagtaag tgagtgaatt tggcttcatc actgaacatt agctaaggtc
     6661 agcttaataa cacaaatatg aggccgactt ctttgcgaga agagaaaaga aaacatctgc
     6721 ttgatttaaa atccacccca catgcctaga gttgtctaat agtccctcac tttccaatgg
     6781 cttcacatcc tacttctaca tttggggttt tttggtgaaa tcagagatag ctcaggattt
     6841 cataaaacga gaaactccaa actggtctat taggttccat gggaacactt gtagccaaag
     6901 gattgtctga gggcaggaag acgacacttg tcaacaagga agacagtgtt tctttagttc
     6961 ccatattcat ctaattcatg gggttctaac attttggggg gccatagatt cttttgacaa
     7021 tctgagccaa tctatgaaac ttctccccaa aaagaaccac cccacaaaat cttgcaaaac
     7081 gtaagagatt ttcctggatc tgaagctacc cgaagacatg ggaagagttg tattctatta
     7141 ttcaatttta agaatattta ttaatattca ctgagctatt gctagccact gtgctaaaca
     7201 ttttacatac attctcctat ttcatcctca aaacaatcct ttgagttggg ttttaatata
     7261 gttccaatat tcggatgtga aaactgaggc ttatagtggc taagaaactt gcccaaagcc
     7321 actacctaga aaatggcaga gctggaatgt aggtttaact cctgaccact atgctataaa
     7381 gtcaccacat gtcaaactaa ttttcaagtt gttgggacat gtcccctact aggttttaaa
     7441 ctagatcttc cttggtagat gaagctatag aacttctatt ttccctgctt tctgtagtct
     7501 ctcacagtga cagcatctat actaaagtat agatacctaa ggggaaaata tagaaagcct
     7561 gcctgaataa tagaatctag aacaacaaca aaaatattaa ttttttctgt gtatgcttag
     7621 gtcaagctta aaaaaaaaaa aaaaagaccg gaaaatacct gggttgttag cctcacattt
     7681 aggaaaaaat tgtaatactc agttatctgt gtgtgtggct aaacaagtca gcatttctgc
     7741 acacatacat ctctttcctt tatacttccc ttcaaaagac aaatatctta cttttgatct
     7801 ttgacactat ttggtcagta ttcttcttta cctttacttg tggcaaaact caaggaagcg
     7861 atcaaataga gggaagctca tttctatcat tgtctctgtt tccctataag aaagaactac
     7921 cagggactca ctgactgcat taggcataca atgtcagagc tgagctgacc actctggtcc
     7981 tgtaatgtct ttggcctcac accttggcag ccatcattaa tgggccatac ccttccccag
     8041 gtgcagaatt ctcctcccca gagcactcag gccgttacta ccaatttatc tgagttggaa
     8101 ataagactca tttgccagtt cttattttta aagtggcacc ctttaacttt gaacctgtgt
     8161 attttacact ggcatcctag attcagcaat gaggtttggt ggtgtttcaa ctaggaaggg
     8221 agaaaatgag tgcatctgaa gttccttaca gcttggtttc tttggaatgc tttcatcttc
     8281 taagcaaagg gatcagggtt tgatctgtaa gagttaaaaa gacaaagtca ttttgaagaa
     8341 ttaactcagc cagggatcat gcaaaaagat tagaaaccat aatgcccttg ttaaagccct
     8401 gctgtcaacc tgccttcacc cagagcttag agggccacag cagcaaagag gttggggtcc
     8461 atccctctct gatgtgcttt ttccacaaca catatctggt cctctggcag gattgtggat
     8521 agagctcctc accataccca aaagactcag ccccagtgcc agtgctttcc tggttcaaca
     8581 acccaccaca aaaccttagt aaaaggatga gccaaaaatg aaaaagactc gactctacag
     8641 taagtcagtc agggatttcc tttttaatgg tttaagacat ccaaatggca agccaggaat
     8701 agataccatt aaagggtctc ataggactaa ccttaccaga gccagaaatc tagctctctg
     8761 gaagagatgc aagattctag aaaagtaaag ggaagtgtcg gcacatctaa atttagtgaa
     8821 cacaaaatta atttttatct agtctgtgac ggagggaata aagtttttca tgtatcaacc
     8881 acctccccca gtcaggtttc tccctttttg agattatgaa gaagctgaga catacttctt
     8941 aaggaggtcg tgttttagaa ggaaaaggca gaggctatcc atcattatgc tggctagatg
     9001 cgcttctgaa gaagccggat tctgatgttc ttaaccaaaa tggtgaggtc atggaagtcc
     9061 catttgcttg gagattttga aaaaaaaaaa aaaaaaaaac ccattcccat aaagtaattg
     9121 agttcagcct ttggattatt tttggtttgg tttttctctg gttttgggtg tgatgtaaga
     9181 agagcttttt agttttgttt tgaataacat caatccttgc acactctatg caaaaatttt
     9241 gtaagcattt caataatgct atgaattaca aggaactatt ttaactttat tacactttct
     9301 gtataaaaaa tttgtattta atattatttc gaccacagtc ttgtaaaata tattaataaa
     9361 aataatgatt ggtaagaagg aaa
//
LOCUS       NM_000338               4708 bp    mRNA    linear   PRI 22-SEP-2023
DEFINITION  Homo sapiens solute carrier family 12 member 1 (SLC12A1), transcript
            variant 1, mRNA.
ACCESSION   NM_000338
VERSION     NM_000338.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4708)
  AUTHORS   Lai X, Lu S, Jiang J, Zhang H, Yang Q, Liu Y, Li L, Li S, Dai S,
            Chen Y, Chen Y, Liu J and Li Y.
  TITLE     Association of polymorphisms of calcium reabsorption genes SLC12A1,
            KCNJ1 and SLC8A1 with colorectal adenoma
  JOURNAL   J Cancer Res Clin Oncol 149 (11), 8335-8344 (2023)
   PUBMED   37074453
  REMARK    GeneRIF: Association of polymorphisms of calcium reabsorption genes
            SLC12A1, KCNJ1 and SLC8A1 with colorectal adenoma.
REFERENCE   2  (bases 1 to 4708)
  AUTHORS   Bakhos-Douaihy D, Seaayfan E, Frachon N, Demaretz S, Komhoff M and
            Laghmani K.
  TITLE     Diacidic Motifs in the Carboxyl Terminus Are Required for ER Exit
            and Translocation to the Plasma Membrane of NKCC2
  JOURNAL   Int J Mol Sci 23 (21), 12761 (2022)
   PUBMED   36361553
  REMARK    GeneRIF: Diacidic Motifs in the Carboxyl Terminus Are Required for
            ER Exit and Translocation to the Plasma Membrane of NKCC2.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4708)
  AUTHORS   Yi S, Li M, Yang Q, Zhang X, Chen F, Qin Z, Yi S, Huang L, Wei H,
            Zhang Q and Luo J.
  TITLE     Novel SLC12A1 mutations cause Bartter syndrome in two patients with
            different prognoses
  JOURNAL   Clin Chim Acta 531, 120-125 (2022)
   PUBMED   35358470
  REMARK    GeneRIF: Novel SLC12A1 mutations cause Bartter syndrome in two
            patients with different prognoses. Review article
REFERENCE   4  (bases 1 to 4708)
  AUTHORS   Sha YG, Wang CL, Du ZW, Zheng BX, Zhou W, Zhao F, Ding GX and Zhang
            A.
  TITLE     [Functional characterization of SLC12A1 gene variants in 3 patients
            with Bartter syndrome type ]
  JOURNAL   Zhonghua Er Ke Za Zhi 60 (2), 129-133 (2022)
   PUBMED   35090230
  REMARK    GeneRIF: [Functional characterization of SLC12A1 gene variants in 3
            patients with Bartter syndrome type ].
REFERENCE   5  (bases 1 to 4708)
  AUTHORS   Castrop H and Schnermann J.
  TITLE     Isoforms of renal Na-K-2Cl cotransporter NKCC2: expression and
            functional significance
  JOURNAL   Am J Physiol Renal Physiol 295 (4), F859-F866 (2008)
   PUBMED   18495801
  REMARK    Review article
REFERENCE   6  (bases 1 to 4708)
  AUTHORS   Vargas-Poussou R, Feldmann D, Vollmer M, Konrad M, Kelly L, van den
            Heuvel LP, Tebourbi L, Brandis M, Karolyi L, Hebert SC, Lemmink HH,
            Deschenes G, Hildebrandt F, Seyberth HW, Guay-Woodford LM, Knoers NV
            and Antignac C.
  TITLE     Novel molecular variants of the Na-K-2Cl cotransporter gene are
            responsible for antenatal Bartter syndrome
  JOURNAL   Am J Hum Genet 62 (6), 1332-1340 (1998)
   PUBMED   9585600
REFERENCE   7  (bases 1 to 4708)
  AUTHORS   Kurtz CL, Karolyi L, Seyberth HW, Koch MC, Vargas R, Feldmann D,
            Vollmer M, Knoers NV, Madrigal G and Guay-Woodford LM.
  TITLE     A common NKCC2 mutation in Costa Rican Bartter's syndrome patients:
            evidence for a founder effect
  JOURNAL   J Am Soc Nephrol 8 (11), 1706-1711 (1997)
   PUBMED   9355073
REFERENCE   8  (bases 1 to 4708)
  AUTHORS   Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA and Lifton RP.
  TITLE     Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is
            caused by mutations in the Na-K-2Cl cotransporter NKCC2
  JOURNAL   Nat Genet 13 (2), 183-188 (1996)
   PUBMED   8640224
REFERENCE   9  (bases 1 to 4708)
  AUTHORS   Quaggin SE, Payne JA, Forbush B 3rd and Igarashi P.
  TITLE     Localization of the renal Na-K-Cl cotransporter gene (Slc12a1) on
            mouse chromosome 2
  JOURNAL   Mamm Genome 6 (8), 557-558 (1995)
   PUBMED   8589530
REFERENCE   10  (bases 1 to 4708)
  AUTHORS   Delpire E, Rauchman MI, Beier DR, Hebert SC and Gullans SR.
  TITLE     Molecular cloning and chromosome localization of a putative
            basolateral Na(+)-K(+)-2Cl- cotransporter from mouse inner medullary
            collecting duct (mIMCD-3) cells
  JOURNAL   J Biol Chem 269 (41), 25677-25683 (1994)
   PUBMED   7929272
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: EF559316.2 [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2145774 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380993.8/ ENSP00000370381.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA632985.1, BC040138.2,
            U58130.1, AC023355.5 and AA917702.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 25, 2019 this sequence version replaced NM_000338.2.
            Summary: This gene encodes a kidney-specific
            sodium-potassium-chloride cotransporter that is expressed on the
            luminal membrane of renal epithelial cells of the thick ascending
            limb of Henle's loop and the macula densa. It plays a key role in
            concentrating urine and accounts for most of the NaCl resorption.
            It is sensitive to such diuretics as furosemide and bumetanide.
            Some Bartter-like syndromes result from defects in this gene.
            Alternative splicing results in multiple transcript variants
            encoding distinct isoforms. Additional splice variants have been
            described but their biological validity in humans has not been
            experimentally proven.[provided by RefSeq, May 2010].
            Transcript Variant: This variant (1) encodes isoform A. Isoforms A
            and F are the same length but differ in the region of amino acids
            214-238.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4708
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     gene            1..4708
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="solute carrier family 12 member 1"
                     /db_xref="GeneID:6557"
                     /db_xref="HGNC:HGNC:10910"
                     /db_xref="MIM:600839"
     misc_feature    168..170
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="upstream in-frame stop codon"
     CDS             216..3515
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="isoform A is encoded by transcript variant 1;
                     Na-K-2Cl cotransporter; Na-K-2Cl cotransporter 2;
                     kidney-specific Na-K-Cl symporter; bumetanide-sensitive
                     sodium-(potassium)-chloride cotransporter 2; solute carrier
                     family 12 (sodium/potassium/chloride transporters), member
                     1; solute carrier family 12 (sodium/potassium/chloride
                     transporter), member 1; bumetanide-sensitive cotransporter
                     type 1"
                     /codon_start=1
                     /product="solute carrier family 12 member 1 isoform A"
                     /protein_id="NP_000329.2"
                     /db_xref="CCDS:CCDS10129.2"
                     /db_xref="GeneID:6557"
                     /db_xref="HGNC:HGNC:10910"
                     /db_xref="MIM:600839"
                     /translation="MSLNNSSNVFLDSVPSNTNRFQVSVINENHESSAAADDNTDPPHY
                     EETSFGDEAQKRLRISFRPGNQECYDNFLQSGETAKTDASFHAYDSHTNTYYLQTFGHN
                     TMDAVPKIEYYRNTGSISGPKVNRPSLLEIHEQLAKNVAVTPSSADRVANGDGIPGDEQ
                     AENKEDDQAGVVKFGWVKGVLVRCMLNIWGVMLFIRLSWIVGEAGIGLGVLIILLSTMV
                     TSITGLSTSAIATNGFVRGGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFAE
                     TVVDLLKESDSMMVDPTNDIRIIGSITVVILLGISVAGMEWEAKAQVILLVILLIAIAN
                     FFIGTVIPSNNEKKSRGFFNYQASIFAENFGPRFTKGEGFFSVFAIFFPAATGILAGAN
                     ISGDLEDPQDAIPRGTMLAIFITTVAYLGVAICVGACVVRDATGNMNDTIISGMNCNGS
                     AACGLGYDFSRCRHEPCQYGLMNNFQVMSMVSGFGPLITAGIFSATLSSALASLVSAPK
                     VFQALCKDNIYKALQFFAKGYGKNNEPLRGYILTFLIAMAFILIAELNTIAPIISNFFL
                     ASYALINFSCFHASYAKSPGWRPAYGIYNMWVSLFGAVLCCAVMFVINWWAAVITYVIE
                     FFLYVYVTCKKPDVNWGSSTQALSYVSALDNALELTTVEDHVKNFRPQCIVLTGGPMTR
                     PALLDITHAFTKNSGLCICCEVFVGPRKLCVKEMNSGMAKKQAWLIKNKIKAFYAAVAA
                     DCFRDGVRSLLQASGLGRMKPNTLVIGYKKNWRKAPLTEIENYVGIIHDAFDFEIGVVI
                     VRISQGFDISQVLQVQEELERLEQERLALEATIKDNECEEESGGIRGLFKKAGKLNITK
                     TTPKKDGSINTSQSMHVGEFNQKLVEASTQFKKKQEKGTIDVWWLFDDGGLTLLIPYIL
                     TLRKKWKDCKLRIYVGGKINRIEEEKIVMASLLSKFRIKFADIHIIGDINIRPNKESWK
                     VFEEMIEPYRLHESCKDLTTAEKLKRETPWKITDAELEAVKEKSYRQVRLNELLQEHSR
                     AANLIVLSLPVARKGSISDLLYMAWLEILTKNLPPVLLVRGNHKNVLTFYS"
     misc_feature    273..284
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13621.2);
                     Region: RFXV motif. /evidence=ECO:0000269|PubMed:21321328"
     misc_feature    306..374
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13621.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    396..398
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P55014; propagated from
                     UniProtKB/Swiss-Prot (Q13621.2); phosphorylation site"
     misc_feature    486..488
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="Phosphoserine, by OXSR1 and STK39.
                     /evidence=ECO:0000269|PubMed:21321328; propagated from
                     UniProtKB/Swiss-Prot (Q13621.2); phosphorylation site"
     misc_feature    498..500
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:21321328; propagated from
                     UniProtKB/Swiss-Prot (Q13621.2); phosphorylation site"
     misc_feature    513..515
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="Phosphothreonine, by OXSR1 and STK39.
                     /evidence=ECO:0000269|PubMed:21321328; propagated from
                     UniProtKB/Swiss-Prot (Q13621.2); phosphorylation site"
     misc_feature    528..530
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="Phosphothreonine, by OXSR1 and STK39.
                     /evidence=ECO:0000269|PubMed:21321328; propagated from
                     UniProtKB/Swiss-Prot (Q13621.2); phosphorylation site"
     misc_feature    567..569
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P55016; propagated from
                     UniProtKB/Swiss-Prot (Q13621.2); phosphorylation site"
     misc_feature    573..575
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P55016; propagated from
                     UniProtKB/Swiss-Prot (Q13621.2); phosphorylation site"
     misc_feature    603..605
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="Phosphoserine, by AMPK.
                     /evidence=ECO:0000269|PubMed:21321328; propagated from
                     UniProtKB/Swiss-Prot (Q13621.2); phosphorylation site"
     misc_feature    657..659
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P55016; propagated from
                     UniProtKB/Swiss-Prot (Q13621.2); phosphorylation site"
     misc_feature    747..809
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13621.2);
                     transmembrane region"
     misc_feature    819..881
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13621.2);
                     transmembrane region"
     misc_feature    993..1055
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13621.2);
                     transmembrane region"
     misc_feature    1122..1184
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13621.2);
                     transmembrane region"
     misc_feature    1197..1259
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13621.2);
                     transmembrane region"
     misc_feature    1353..1415
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13621.2);
                     transmembrane region"
     misc_feature    1467..1529
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13621.2);
                     transmembrane region"
     misc_feature    1551..1553
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13621.2); glycosylation site"
     misc_feature    1581..1583
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13621.2); glycosylation site"
     misc_feature    1668..1730
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13621.2);
                     transmembrane region"
     misc_feature    1866..1928
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13621.2);
                     transmembrane region"
     misc_feature    1929..1991
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13621.2);
                     transmembrane region"
     misc_feature    2043..2105
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13621.2);
                     transmembrane region"
     misc_feature    2592..2654
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13621.2);
                     transmembrane region"
     regulatory      4688..4693
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="hexamer: AATAAA"
     polyA_site      4708
                     /gene="SLC12A1"
                     /gene_synonym="BSC; BSC-1; BSC1; CCC2; NKCC2"
                     /note="major polyA site"
ORIGIN
        1 acatttcctc agaagaaggc tccttggtgc tttgaagaac atcctgaaga ttatatcgga
       61 gacaatatat caagaatcta tttattgaat catctagaac aaaagccagg agctccctaa
      121 tggaagcaca ttagtgttta ttttgatgaa gaaatatata gattttttaa aacaaccaca
      181 aagtagatag ctcagtaaaa aatcaatttt ggaagatgtc actgaacaac tcttccaatg
      241 tatttctgga ttcagtgccc agtaatacca atcgctttca agttagtgtc ataaatgaga
      301 accatgagag cagtgcagct gcagatgaca atactgaccc accacattat gaagaaacct
      361 cttttgggga tgaagctcag aaaagactca gaatcagctt taggcctggg aatcaggagt
      421 gctatgacaa tttcctccaa agtggagaaa ctgctaaaac agatgccagt tttcacgctt
      481 atgattctca cacaaacaca tactatctac aaacttttgg ccacaacacc atggatgccg
      541 ttcccaagat agagtactat cgtaacaccg gcagcatcag tgggcccaag gtcaaccgac
      601 ccagcctgct tgagattcac gagcaactcg caaagaatgt ggcagtcacc ccaagttcag
      661 ctgacagagt tgctaacggt gatgggatac ctggagatga acaagctgaa aataaggaag
      721 atgatcaagc tggtgttgtg aagtttggat gggtgaaagg tgtgctggta agatgcatgc
      781 tgaacatctg gggagtcatg ctcttcattc gcctctcctg gattgttgga gaagctggaa
      841 ttggtcttgg agttctcata attcttcttt ccaccatggt aacttctatt actgggttgt
      901 caacttctgc gatagcaact aacgggtttg ttcgtggagg tggggcctac tatcttattt
      961 ccagaagttt agggcccgag ttcggtgggt caataggcct gatctttgct tttgctaatg
     1021 cagtggctgt tgctatgtat gtggtgggat ttgctgagac tgtagtagat cttcttaagg
     1081 agagtgattc gatgatggtg gatccaacca atgacatccg gattataggc tccatcacag
     1141 tggtgattct tctaggaatt tcagtagctg gaatggaatg ggaggcaaag gcccaagtca
     1201 ttcttctggt cattcttcta attgctattg caaacttctt cattggaact gtcattccat
     1261 ccaacaatga gaaaaagtcc agaggtttct ttaattacca agcatcaata tttgcagaaa
     1321 actttgggcc acgcttcaca aagggtgaag gcttcttctc tgtctttgcc atttttttcc
     1381 cagcagctac tgggattctt gctggtgcca atatctcagg agatttggag gatccccaag
     1441 atgccatccc cagaggaacc atgctggcca ttttcatcac cactgttgcc tacttagggg
     1501 ttgcaatttg tgtaggggcc tgtgtggtcc gagatgccac cgggaacatg aatgacacca
     1561 tcatttctgg gatgaactgc aatggttcag cagcatgtgg gttgggctat gacttctcaa
     1621 gatgtcgaca tgaaccatgt cagtacgggc tgatgaacaa tttccaggtc atgagcatgg
     1681 tatcagggtt cggccccctc atcactgcgg gaatcttttc tgcaacactc tcctccgccc
     1741 tggcctccct tgtcagcgca cccaaagtgt tccaggctct gtgcaaggac aacatctaca
     1801 aagccctgca gttttttgca aagggatatg ggaaaaacaa tgaacccctg agaggatata
     1861 ttctcacttt tcttatagcc atggcattta ttcttattgc ggaactgaac accattgctc
     1921 ccatcatctc caactttttc ctggcctcat atgcacttat taatttctcc tgcttccatg
     1981 cctcttatgc caaatctcca ggatggagac ctgcgtatgg aatttacaac atgtgggtat
     2041 ctctttttgg agctgttttg tgctgtgcag tcatgtttgt catcaactgg tgggcagctg
     2101 tcatcaccta tgtcattgaa ttcttccttt acgtctatgt gacttgtaag aagccagatg
     2161 tgaactgggg ctcctccaca caggctcttt cctacgtgag tgctttagac aatgctctgg
     2221 aattaaccac agtggaagac cacgtaaaaa acttcaggcc ccagtgcatt gtcttaacag
     2281 ggggacccat gacaagacct gctctcctgg acataactca cgcctttacc aagaacagtg
     2341 gcctttgcat ctgctgtgaa gtctttgtgg gaccgcgcaa actgtgtgtt aaggagatga
     2401 acagtggcat ggcgaaaaaa caggcctggc ttataaagaa caaaatcaag gctttttatg
     2461 ctgcagtggc ggcagactgt ttcagggatg gtgtccgaag tcttcttcag gcctcaggct
     2521 taggaagaat gaaaccaaac actctggtga ttggatataa gaaaaactgg aggaaagctc
     2581 ccttgacaga gattgagaac tacgtgggaa tcatacatga tgcatttgat tttgagattg
     2641 gcgtggttat agtcagaatc agccaaggat ttgacatctc tcaggttctt caggtgcaag
     2701 aggaattaga gagattagaa caggagagac tagcattgga agcgactatc aaagataatg
     2761 agtgtgaaga ggaaagtgga ggcatccgag gcttgtttaa aaaagctggc aagttgaaca
     2821 ttactaagac aacgcctaaa aaagatggca gcattaacac aagccagtcg atgcatgtgg
     2881 gagagttcaa ccagaaactg gtggaagcca gcactcaatt taaaaagaaa caagaaaaag
     2941 gcacaattga tgtttggtgg ttgtttgatg atggagggtt aacacttctt atcccctata
     3001 tcttaactct cagaaaaaaa tggaaagact gtaaattaag aatctatgtg ggagggaaga
     3061 tcaaccgcat tgaagaagaa aaaattgtaa tggcttccct tctgagcaaa tttaggataa
     3121 aatttgcaga catccatatc atcggtgaca tcaacattag gccaaacaaa gagagctgga
     3181 aagtctttga agagatgatt gaaccatatc gtctccatga aagctgcaaa gatttaacaa
     3241 ctgctgagaa attaaaaaga gaaactccgt ggaaaattac agatgcagaa ctggaagcag
     3301 tcaaggaaaa gagttaccgc caagttcgac tgaatgaact cttacaggag cactccagag
     3361 ctgctaatct cattgtcctg agccttcccg tggcaagaaa gggatccata tcggatttgt
     3421 tgtatatggc ttggttggaa atcctcacaa agaacctccc acctgtctta ctagttagag
     3481 gaaatcacaa aaatgtcttg acattttact cttaaaacat gaaagattgg aatacatttt
     3541 aacttaatgt aatgcataat taagaaacat gttccagtac tttatgttgt aaatctgatc
     3601 tatggatatg caaacctctg gagaggatcc taccagattc tacatacatt gcataatttt
     3661 tatcagttaa tgcgagcttt tttttctctt ctcagcttaa ggggttgtca aagccaatgt
     3721 tatccctaga aaaacatttt tgtcactgct gttgataaac aagaaaatca aggaaactca
     3781 tgttggctta tgctcatgaa aaccaccaat gtgattgtaa acttctccag acaaacttaa
     3841 ccttttgttt cttaattttt tgttttgagt gtttgcttct cagccctggt ataggtctca
     3901 gccccacagc aggatctcaa taaatgctta ttgacaggct ggcatagtaa ccacaggtgg
     3961 ttatcaaagg aaaagaccaa taggctgggg aacataatta tgcttggccc cctcagaggc
     4021 ttatacctcc aaagcagatt taaaaatcag taactcaaaa ctttaagaag tagttgagtc
     4081 tacaaaatat tcaaagcagt tacctaaata aggttattta atgtaacaga ttatatactt
     4141 aaagtgatct gagcaatcat tgataacata tggcttaaat ttgctgctgc ctgaaaagta
     4201 tattaactag attagaagac accatatact ccaataaaat gaaatatatt ctattctcaa
     4261 tatataaact ttaattgtac tccctatcaa atattttgaa atttccatca cggcattact
     4321 ttgcatattt ttttctaatt aaatggttag tacagatgaa atctttatag atgactactt
     4381 gaaaactaag tgctacaaat tttcaaacca ttattaagaa atatatcctg aatcatatat
     4441 ttagttactt tctatagtga ttgtatggat ttaaaagaat aattaaaatg tgaagttgaa
     4501 aaacttgtaa aatttggaat atacagatac tgattttttt catttttgtt agtataccta
     4561 taatacataa tcacattgac aaaccaatga aaatattgat tttctgatga atggcttgat
     4621 ttttctcctt gacatgtttt gactgttcat tctaactgaa aacatatatg ggaaaatatg
     4681 aacctgaaat aaaagcactc aaattcaa
//
LOCUS       NM_000340               3181 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens solute carrier family 2 member 2 (SLC2A2), transcript
            variant 1, mRNA.
ACCESSION   NM_000340
VERSION     NM_000340.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3181)
  AUTHORS   Liu L, Ma F, Liu Q, Yu X and Zeng X.
  TITLE     Association Between the SLC2A2 Gene rs1499821 Polymorphism and
            Caries Susceptibility
  JOURNAL   Genet Test Mol Biomarkers 27 (5), 149-156 (2023)
   PUBMED   37257183
  REMARK    GeneRIF: Association Between the SLC2A2 Gene rs1499821 Polymorphism
            and Caries Susceptibility.
REFERENCE   2  (bases 1 to 3181)
  AUTHORS   Chen H, Zhang X, Liao N, Ji Y, Mi L, Gan Y, Su Y and Wen F.
  TITLE     Decreased expression of Glucagon-like peptide-1 receptor and
            Sodium-glucose co-transporter 2 in patients with proliferative
            diabetic retinopathy
  JOURNAL   Front Endocrinol (Lausanne) 13, 1020252 (2022)
   PUBMED   36465606
  REMARK    GeneRIF: Decreased expression of Glucagon-like peptide-1 receptor
            and Sodium-glucose co-transporter 2 in patients with proliferative
            diabetic retinopathy. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3181)
  AUTHORS   Grunert SC, Schumann A, Baronio F, Tsiakas K, Murko S,
            Spiekerkoetter U and Santer R.
  TITLE     Evidence for a Genotype-Phenotype Correlation in Patients with
            Pathogenic GLUT2 (SLC2A2) Variants
  JOURNAL   Genes (Basel) 12 (11), 1785 (2021)
   PUBMED   34828390
  REMARK    GeneRIF: Evidence for a Genotype-Phenotype Correlation in Patients
            with Pathogenic GLUT2 (SLC2A2) Variants. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3181)
  AUTHORS   Schmidl S, Ursu O, Iancu CV, Oreb M, Oprea TI and Choe JY.
  TITLE     Identification of new GLUT2-selective inhibitors through in silico
            ligand screening and validation in eukaryotic expression systems
  JOURNAL   Sci Rep 11 (1), 13751 (2021)
   PUBMED   34215797
  REMARK    GeneRIF: Identification of new GLUT2-selective inhibitors through in
            silico ligand screening and validation in eukaryotic expression
            systems. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3181)
  AUTHORS   Low BSJ, Lim CS, Ding SSL, Tan YS, Ng NHJ, Krishnan VG, Ang SF, Neo
            CWY, Verma CS, Hoon S, Lim SC, Tai ES and Teo AKK.
  TITLE     Decreased GLUT2 and glucose uptake contribute to insulin secretion
            defects in MODY3/HNF1A hiPSC-derived mutant beta cells
  JOURNAL   Nat Commun 12 (1), 3133 (2021)
   PUBMED   34035238
  REMARK    GeneRIF: Decreased GLUT2 and glucose uptake contribute to insulin
            secretion defects in MODY3/HNF1A hiPSC-derived mutant beta cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3181)
  AUTHORS   Ban N, Yamada Y, Someya Y, Miyawaki K, Ihara Y, Hosokawa M, Toyokuni
            S, Tsuda K and Seino Y.
  TITLE     Hepatocyte nuclear factor-1alpha recruits the transcriptional
            co-activator p300 on the GLUT2 gene promoter
  JOURNAL   Diabetes 51 (5), 1409-1418 (2002)
   PUBMED   11978637
  REMARK    GeneRIF: Hepatocyte nuclear factor-1alpha recruits the
            transcriptional co-activator p300 on the GLUT2 gene promoter.
REFERENCE   7  (bases 1 to 3181)
  AUTHORS   Patel P, Lo YM, Bell GI, Turner RC and Wainscoat JS.
  TITLE     Dinucleotide repeat polymorphism at the human GLUT2 locus
  JOURNAL   Nucleic Acids Res 19 (14), 4017 (1991)
   PUBMED   1862003
REFERENCE   8  (bases 1 to 3181)
  AUTHORS   Froguel P, Zouali H, Sun F, Velho G, Fukumoto H, Passa P and Cohen
            D.
  TITLE     CA repeat polymorphism in the glucose transporter GLUT 2 gene
  JOURNAL   Nucleic Acids Res 19 (13), 3754 (1991)
   PUBMED   1852621
REFERENCE   9  (bases 1 to 3181)
  AUTHORS   Fukumoto H, Kayano T, Buse JB, Edwards Y, Pilch PF, Bell GI and
            Seino S.
  TITLE     Cloning and characterization of the major insulin-responsive glucose
            transporter expressed in human skeletal muscle and other
            insulin-responsive tissues
  JOURNAL   J Biol Chem 264 (14), 7776-7779 (1989)
   PUBMED   2656669
REFERENCE   10  (bases 1 to 3181)
  AUTHORS   Fukumoto H, Seino S, Imura H, Seino Y, Eddy RL, Fukushima Y, Byers
            MG, Shows TB and Bell GI.
  TITLE     Sequence, tissue distribution, and chromosomal localization of mRNA
            encoding a human glucose transporter-like protein
  JOURNAL   Proc Natl Acad Sci U S A 85 (15), 5434-5438 (1988)
   PUBMED   3399500
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK313622.1, J03810.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN04284274
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000314251.8/ ENSP00000323568.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092918.6, J03810.1 and
            AC061708.17.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000340.1.
            Summary: This gene encodes an integral plasma membrane glycoprotein
            of the liver, islet beta cells, intestine, and kidney epithelium.
            The encoded protein mediates facilitated bidirectional glucose
            transport. Because of its low affinity for glucose, it has been
            suggested as a glucose sensor. Mutations in this gene are
            associated with susceptibility to diseases, including
            Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus
            (NIDDM). Alternative splicing results in multiple transcript
            variants of this gene. [provided by RefSeq, Jul 2013].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments and
            experimental data in the literature (PMID: 11978637).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3181
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.2"
     gene            1..3181
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="solute carrier family 2 member 2"
                     /db_xref="GeneID:6514"
                     /db_xref="HGNC:HGNC:11006"
                     /db_xref="MIM:138160"
     CDS             51..1625
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glucose transporter type 2, liver; solute carrier family 2
                     (facilitated glucose transporter), member 2"
                     /codon_start=1
                     /product="solute carrier family 2, facilitated glucose
                     transporter member 2 isoform 1"
                     /protein_id="NP_000331.1"
                     /db_xref="CCDS:CCDS3215.1"
                     /db_xref="GeneID:6514"
                     /db_xref="HGNC:HGNC:11006"
                     /db_xref="MIM:138160"
                     /translation="MTEDKVTGTLVFTVITAVLGSFQFGYDIGVINAPQQVIISHYRHV
                     LGVPLDDRKAINNYVINSTDELPTISYSMNPKPTPWAEEETVAAAQLITMLWSLSVSSF
                     AVGGMTASFFGGWLGDTLGRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSISGL
                     YCGLISGLVPMYIGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILL
                     GLSGVRAILQSLLLFFCPESPRYLYIKLDEEVKAKQSLKRLRGYDDVTKDINEMRKERE
                     EASSEQKVSIIQLFTNSSYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTAGISKPVY
                     ATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYV
                     SMIAIFLFVSFFEIGPGPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIA
                     DFCGPYVFFLFAGVLLAFTLFTFFKVPETKGKSFEEIAAEFQKKSGSAHRPKAAVEMKF
                     LGATETV"
     misc_feature    81..143
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="propagated from UniProtKB/Swiss-Prot (P11168.1);
                     transmembrane region"
     misc_feature    234..236
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11168.1); glycosylation site"
     misc_feature    345..407
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="propagated from UniProtKB/Swiss-Prot (P11168.1);
                     transmembrane region"
     misc_feature    432..494
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="propagated from UniProtKB/Swiss-Prot (P11168.1);
                     transmembrane region"
     misc_feature    525..587
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="propagated from UniProtKB/Swiss-Prot (P11168.1);
                     transmembrane region"
     misc_feature    612..674
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="propagated from UniProtKB/Swiss-Prot (P11168.1);
                     transmembrane region"
     misc_feature    702..764
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="propagated from UniProtKB/Swiss-Prot (P11168.1);
                     transmembrane region"
     misc_feature    960..1022
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="propagated from UniProtKB/Swiss-Prot (P11168.1);
                     transmembrane region"
     misc_feature    1065..1127
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="propagated from UniProtKB/Swiss-Prot (P11168.1);
                     transmembrane region"
     misc_feature    1155..1217
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="propagated from UniProtKB/Swiss-Prot (P11168.1);
                     transmembrane region"
     misc_feature    1251..1313
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="propagated from UniProtKB/Swiss-Prot (P11168.1);
                     transmembrane region"
     misc_feature    1350..1412
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="propagated from UniProtKB/Swiss-Prot (P11168.1);
                     transmembrane region"
     misc_feature    1434..1496
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="propagated from UniProtKB/Swiss-Prot (P11168.1);
                     transmembrane region"
     misc_feature    1617..1619
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P11168.1); phosphorylation site"
     regulatory      3163..3168
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="hexamer: AAGAAA"
     polyA_site      3181
                     /gene="SLC2A2"
                     /gene_synonym="GLUT2"
                     /note="major polyA site"
ORIGIN
        1 gtgccacact cacacaagac ctggaattga caggactccc aactagtaca atgacagaag
       61 ataaggtcac tgggaccctg gttttcactg tcatcactgc tgtgctgggt tccttccagt
      121 ttggatatga cattggtgtg atcaatgcac ctcaacaggt aataatatct cactatagac
      181 atgttttggg tgttccactg gatgaccgaa aagctatcaa caactatgtt atcaacagta
      241 cagatgaact gcccacaatc tcatactcaa tgaacccaaa accaacccct tgggctgagg
      301 aagagactgt ggcagctgct caactaatca ccatgctctg gtccctgtct gtatccagct
      361 ttgcagttgg tggaatgact gcatcattct ttggtgggtg gcttggggac acacttggaa
      421 gaatcaaagc catgttagta gcaaacattc tgtcattagt tggagctctc ttgatggggt
      481 tttcaaaatt gggaccatct catatactta taattgctgg aagaagcata tcaggactat
      541 attgtgggct aatttcaggc ctggttccta tgtatatcgg tgaaattgct ccaaccgctc
      601 tcaggggagc acttggcact tttcatcagc tggccatcgt cacgggcatt cttattagtc
      661 agattattgg tcttgaattt atcttgggca attatgatct gtggcacatc ctgcttggcc
      721 tgtctggtgt gcgagccatc cttcagtctc tgctactctt tttctgtcca gaaagcccca
      781 gataccttta catcaagtta gatgaggaag tcaaagcaaa acaaagcttg aaaagactca
      841 gaggatatga tgatgtcacc aaagatatta atgaaatgag aaaagaaaga gaagaagcat
      901 cgagtgagca gaaagtctct ataattcagc tcttcaccaa ttccagctac cgacagccta
      961 ttctagtggc actgatgctg catgtggctc agcaattttc cggaatcaat ggcatttttt
     1021 actactcaac cagcattttt cagacggctg gtatcagcaa acctgtttat gcaaccattg
     1081 gagttggcgc tgtaaacatg gttttcactg ctgtctctgt attccttgtg gagaaggcag
     1141 ggcgacgttc tctctttcta attggaatga gtgggatgtt tgtttgtgcc atcttcatgt
     1201 cagtgggact tgtgctgctg aataagttct cttggatgag ttatgtgagc atgatagcca
     1261 tcttcctctt tgtcagcttc tttgaaattg ggccaggccc gatcccctgg ttcatggtgg
     1321 ctgagttttt cagtcaagga ccacgtcctg ctgctttagc aatagctgca ttcagcaatt
     1381 ggacctgcaa tttcattgta gctctgtgtt tccagtacat tgcggacttc tgtggacctt
     1441 atgtgttttt cctctttgct ggagtgctcc tggcctttac cctgttcaca ttttttaaag
     1501 ttccagaaac caaaggaaag tcttttgagg aaattgctgc agaattccaa aagaagagtg
     1561 gctcagccca caggccaaaa gctgctgtag aaatgaaatt cctaggagct acagagactg
     1621 tgtaaaaaaa aaaccctgct ttttgacatg aacagaaaca ataagggaac cgtctgtttt
     1681 taaatgatga ttccttgagc attttatatc cacatcttta agtattgttt tatttttatg
     1741 tgctctcatc agaaatgtca tcaaatatta ccaaaaaagt atttttttaa gttagagaat
     1801 atatttttga tggtaagact gtaattaagt aaaccaaaaa ggctagttta ttttgttaca
     1861 ctaaagggca ggtggttcta atatttttag ctctgttctt tataacaagg ttcttctaaa
     1921 attgaagaga tttcaacata tcattttttt aacacataac tagaaacctg aggatgcaac
     1981 aaatatttat atatttgaat atcattaaat tggaattttc ttacccatat atcttatgtt
     2041 aaaggagata tggctagtgg caataagttc catgttaaaa tagacaactc ttccatttat
     2101 tgcactcagc ttttttcttg agtactagaa tttgtatttt gcttaaaatt ttacttttgt
     2161 tctgtatttt catgtggaat ggattataga gtatactaaa aaatgtctat agagaaaaac
     2221 tttcattttt ggtaggctta tcaaaatctt tcagcactca gaaaagaaaa ccattttagt
     2281 tcctttattt aatggccaaa tggtttttgc aagatttaac actaaaaagg tttcacctga
     2341 tcatatagcg tgggttatca gttaacatta acatctatta taaaaccatg ttgattccct
     2401 tctggtacaa tcctttgagt tatagtttgc tttgcttttt aattgaggac agcctggttt
     2461 tcacatacac tcaaacaatc atgagtcaga catttggtat attacctcaa attcctaata
     2521 agtttgatca aatctaatgt aagaaaattt gaagtaaagg attgatcact ttgttaaaaa
     2581 tattttctga attattatgt ctcaaaataa gttgaaaagg tagggtttga ggattcctga
     2641 gtgtgggctt ctgaaacttc ataaatgttc agcttcagac ttttatcaaa atccctattt
     2701 aattttcctg gaaagactga ttgttttatg gtgtgttcct aacataaaat aatcgtctcc
     2761 tttgacattt ccttctttgt cttagctgta tacagattct agccaaacta ttctatggcc
     2821 attactaaca cgcattgtac actatctatc tgcctttacc tacataggca aattggaaat
     2881 acacagatga ttaaacagac tttagcttac agtcaatttt acaattatgg aaatatagtt
     2941 ctgatgggtc ccaaaagctt agcagggtgc taacgtatct ctaggctgtt ttctccacca
     3001 actggagcac tgatcaatcc ttcttatgtt tgctttaatg tgtattgaag aaaagcactt
     3061 tttaaaaagt actctttaag agtgaaataa ttaaaaacca ctgaacattt gctttgtttt
     3121 ctaaagttgt tcacatatat gtaatttagc agtccaaaga acaagaaatt gtttcttttc
     3181 a
//
LOCUS       NM_000341               2969 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens solute carrier family 3 member 1 (SLC3A1), mRNA.
ACCESSION   NM_000341
VERSION     NM_000341.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2969)
  AUTHORS   Wu CW, Badreddine J, Chang J, Huang YM, Kim FJ, Wild T, Tsai AC,
            Meeks N, Donalisio Da Silva R, Molina WR and Schumacher FR.
  TITLE     Population genetics analysis of SLC3A1 and SLC7A9 revealed the
            etiology of cystine stone may be more than what our current genetic
            knowledge can explain
  JOURNAL   Urolithiasis 51 (1), 101 (2023)
   PUBMED   37561200
  REMARK    GeneRIF: Population genetics analysis of SLC3A1 and SLC7A9 revealed
            the etiology of cystine stone may be more than what our current
            genetic knowledge can explain. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2969)
  AUTHORS   Lee B, Lee SY, Han DH and Park HD.
  TITLE     Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients:
            The significance of the PM3 criterion and protein stability
  JOURNAL   Urolithiasis 51 (1), 94 (2023)
   PUBMED   37439839
  REMARK    GeneRIF: Interpretation of SLC3A1 and SLC7A9 variants in cystinuria
            patients: The significance of the PM3 criterion and protein
            stability. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2969)
  AUTHORS   Tkaczyk M, Gadomska-Prokop K, Zaluska-Lesniewska I, Musial K,
            Zawadzki J, Jobs K, Porowski T, Rogowska-Kalisz A, Jander A, Kirolos
            M, Halinski A, Krzemien A, Sobieszczanska-Drozdziel A, Zachwieja K,
            Beck BB, Sikora P and Zaniew M.
  TITLE     Clinical profile of a Polish cohort of children and young adults
            with cystinuria
  JOURNAL   Ren Fail 43 (1), 62-70 (2021)
   PUBMED   33349102
  REMARK    GeneRIF: Clinical profile of a Polish cohort of children and young
            adults with cystinuria.
REFERENCE   4  (bases 1 to 2969)
  AUTHORS   Wu D, Grund TN, Welsch S, Mills DJ, Michel M, Safarian S and Michel
            H.
  TITLE     Structural basis for amino acid exchange by a human heteromeric
            amino acid transporter
  JOURNAL   Proc Natl Acad Sci U S A 117 (35), 21281-21287 (2020)
   PUBMED   32817565
  REMARK    GeneRIF: Structural basis for amino acid exchange by a human
            heteromeric amino acid transporter.
REFERENCE   5  (bases 1 to 2969)
  AUTHORS   Yan R, Li Y, Shi Y, Zhou J, Lei J, Huang J and Zhou Q.
  TITLE     Cryo-EM structure of the human heteromeric amino acid transporter
            b0,+AT-rBAT
  JOURNAL   Sci Adv 6 (16), eaay6379 (2020)
   PUBMED   32494597
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2969)
  AUTHORS   Calonge MJ, Volpini V, Bisceglia L, Rousaud F, de Sanctis L, Beccia
            E, Zelante L, Testar X, Zorzano A, Estivill X et al.
  TITLE     Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to
            type I but not to type III cystinuria
  JOURNAL   Proc Natl Acad Sci U S A 92 (21), 9667-9671 (1995)
   PUBMED   7568194
REFERENCE   7  (bases 1 to 2969)
  AUTHORS   Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I,
            Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A et al.
  TITLE     Molecular genetics of cystinuria: identification of four new
            mutations and seven polymorphisms, and evidence for genetic
            heterogeneity
  JOURNAL   Am J Hum Genet 57 (4), 781-788 (1995)
   PUBMED   7573036
REFERENCE   8  (bases 1 to 2969)
  AUTHORS   Miyamoto K, Katai K, Tatsumi S, Sone K, Segawa H, Yamamoto H,
            Taketani Y, Takada K, Morita K, Kanayama H et al.
  TITLE     Mutations of the basic amino acid transporter gene associated with
            cystinuria
  JOURNAL   Biochem J 310 (Pt 3) (Pt 3), 951-955 (1995)
   PUBMED   7575432
REFERENCE   9  (bases 1 to 2969)
  AUTHORS   Pras E, Raben N, Golomb E, Arber N, Aksentijevich I, Schapiro JM,
            Harel D, Katz G, Liberman U, Pras M et al.
  TITLE     Mutations in the SLC3A1 transporter gene in cystinuria
  JOURNAL   Am J Hum Genet 56 (6), 1297-1303 (1995)
   PUBMED   7539209
REFERENCE   10  (bases 1 to 2969)
  AUTHORS   Bertran J, Werner A, Chillaron J, Nunes V, Biber J, Testar X,
            Zorzano A, Estivill X, Murer H and Palacin M.
  TITLE     Expression cloning of a human renal cDNA that induces high affinity
            transport of L-cystine shared with dibasic amino acids in Xenopus
            oocytes
  JOURNAL   J Biol Chem 268 (20), 14842-14849 (1993)
   PUBMED   7686906
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK289636.1, L11696.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000260649.11/ ENSP00000260649.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013717.8, BC093626.1 and
            AK223146.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000341.3.
            Summary: This gene encodes a type II membrane glycoprotein which is
            one of the components of the renal amino acid transporter which
            transports neutral and basic amino acids in the renal tubule and
            intestinal tract. Mutations and deletions in this gene are
            associated with cystinuria. Alternatively spliced transcript
            variants have been described, but their biological validity has not
            been determined. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2969
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     gene            1..2969
                     /gene="SLC3A1"
                     /gene_synonym="ATR1; CSNU1; D2H; NBAT; RBAT"
                     /note="solute carrier family 3 member 1"
                     /db_xref="GeneID:6519"
                     /db_xref="HGNC:HGNC:11025"
                     /db_xref="MIM:104614"
     misc_feature    51..53
                     /gene="SLC3A1"
                     /gene_synonym="ATR1; CSNU1; D2H; NBAT; RBAT"
                     /note="upstream in-frame stop codon"
     CDS             57..2114
                     /gene="SLC3A1"
                     /gene_synonym="ATR1; CSNU1; D2H; NBAT; RBAT"
                     /note="amino acid transporter 1; solute carrier family 3
                     (cystine, dibasic and neutral amino acid transporters),
                     member 1; neutral and basic amino acid transport protein
                     rBAT; B(0,+)-type amino acid transport protein; solute
                     carrier family 3 (amino acid transporter heavy chain),
                     member 1; solute carrier family 3 (cystine, dibasic and
                     neutral amino acid transporters, activator of cystine,
                     dibasic and neutral amino acid transport), member 1;
                     b(0,+)-type amino acid transporter-related heavy chain"
                     /codon_start=1
                     /product="amino acid transporter heavy chain SLC3A1"
                     /protein_id="NP_000332.2"
                     /db_xref="CCDS:CCDS1819.1"
                     /db_xref="GeneID:6519"
                     /db_xref="HGNC:HGNC:11025"
                     /db_xref="MIM:104614"
                     /translation="MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLK
                     HSTRGILGSQEPDFKGVQPYAGMPKEVLFQFSGQARYRIPREILFWLTVASVLVLIAAT
                     IAIIALSPKCLDWWQEGPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTVWIT
                     SFYKSSLKDFRYGVEDFREVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIW
                     FQLSRTRTGKYTDYYIWHDCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKE
                     QPDLNFRNPDVQEEIKEILRFWLTKGVDGFSLDAVKFLLEAKHLRDEIQVNKTQIPDTV
                     TQYSELYHDFTTTQVGMHDIVRSFRQTMDQYSTEPGRYRFMGTEAYAESIDRTVMYYGL
                     PFIQEADFPFNNYLSMLDTVSGNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLG
                     NQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNA
                     GFSEASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHANELLLNRGWFCHLRND
                     SHYVVYTRELDGIDRIFIVVLNFGESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDT
                     SGIFLDKGEGLIFEHNTKNLLHRQTAFRDRCFVSNRACYSSVLNILYTSC"
     misc_feature    57..224
                     /gene="SLC3A1"
                     /gene_synonym="ATR1; CSNU1; D2H; NBAT; RBAT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07837.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    84..86
                     /gene="SLC3A1"
                     /gene_synonym="ATR1; CSNU1; D2H; NBAT; RBAT"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64319; propagated from
                     UniProtKB/Swiss-Prot (Q07837.2); phosphorylation site"
     misc_feature    318..380
                     /gene="SLC3A1"
                     /gene_synonym="ATR1; CSNU1; D2H; NBAT; RBAT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07837.2);
                     transmembrane region"
     misc_feature    696..698
                     /gene="SLC3A1"
                     /gene_synonym="ATR1; CSNU1; D2H; NBAT; RBAT"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q07837.2); glycosylation site"
     misc_feature    837..839
                     /gene="SLC3A1"
                     /gene_synonym="ATR1; CSNU1; D2H; NBAT; RBAT"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q07837.2); glycosylation site"
     misc_feature    1050..1052
                     /gene="SLC3A1"
                     /gene_synonym="ATR1; CSNU1; D2H; NBAT; RBAT"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q07837.2); glycosylation site"
     misc_feature    1539..1541
                     /gene="SLC3A1"
                     /gene_synonym="ATR1; CSNU1; D2H; NBAT; RBAT"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q07837.2); glycosylation site"
     misc_feature    1593..1595
                     /gene="SLC3A1"
                     /gene_synonym="ATR1; CSNU1; D2H; NBAT; RBAT"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q07837.2); glycosylation site"
     misc_feature    1779..1781
                     /gene="SLC3A1"
                     /gene_synonym="ATR1; CSNU1; D2H; NBAT; RBAT"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q07837.2); glycosylation site"
     regulatory      2279..2284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC3A1"
                     /gene_synonym="ATR1; CSNU1; D2H; NBAT; RBAT"
                     /note="hexamer: AATAAA"
     polyA_site      2299
                     /gene="SLC3A1"
                     /gene_synonym="ATR1; CSNU1; D2H; NBAT; RBAT"
                     /note="major polyA site"
     regulatory      2934..2939
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC3A1"
                     /gene_synonym="ATR1; CSNU1; D2H; NBAT; RBAT"
                     /note="hexamer: ATTAAA"
     polyA_site      2953
                     /gene="SLC3A1"
                     /gene_synonym="ATR1; CSNU1; D2H; NBAT; RBAT"
ORIGIN
        1 actcttccac ctcccttact gcaggaaggc actccgaaga cataagtcgg tgagacatgg
       61 ctgaagataa aagcaagaga gactccatcg agatgagtat gaagggatgc cagacaaaca
      121 acgggtttgt ccataatgaa gacattctgg agcagacccc ggatccagga agctcaacag
      181 acaacctgaa gcacagcacc aggggcatcc ttggctccca ggagcccgac ttcaagggcg
      241 tccagcccta tgcggggatg cccaaggagg tgctgttcca gttctctggc caggcccgct
      301 accgcatacc tcgggagatc ctcttctggc tcacagtggc ttctgtgctg gtgctcatcg
      361 cggccaccat agccatcatt gccctctctc caaagtgcct agactggtgg caggaggggc
      421 ccatgtacca gatctaccca aggtctttca aggacagtaa caaggatggg aacggagatc
      481 tgaaaggtat tcaagataaa ctggactaca tcacagcttt aaatataaaa actgtttgga
      541 ttacttcatt ttataaatcg tcccttaaag atttcagata tggtgttgaa gatttccggg
      601 aagttgatcc catttttgga acgatggaag attttgagaa tctggttgca gccatacatg
      661 ataaaggttt aaaattaatc atcgatttca taccaaacca cacgagtgat aaacatattt
      721 ggtttcaatt gagtcggaca cggacaggaa aatatactga ttattatatc tggcatgact
      781 gtacccatga aaatggcaaa accattccac ccaacaactg gttaagtgtg tatggaaact
      841 ccagttggca ctttgacgaa gtgcgaaacc aatgttattt tcatcagttt atgaaagagc
      901 aacctgattt aaatttccgc aatcctgatg ttcaagaaga aataaaagaa attttacggt
      961 tctggctcac aaagggtgtt gatggtttta gtttggatgc tgttaaattc ctcctagaag
     1021 caaagcacct gagagatgag atccaagtaa ataagaccca aatcccggac acggtcacac
     1081 aatactcgga gctgtaccat gacttcacca ccacgcaggt gggaatgcac gacattgtcc
     1141 gcagcttccg gcagaccatg gaccaataca gcacggagcc cggcagatac aggttcatgg
     1201 ggactgaagc ctatgcagag agtattgaca ggaccgtgat gtactatgga ttgccattta
     1261 tccaagaagc tgattttccc ttcaacaatt acctcagcat gctagacact gtttctggga
     1321 acagcgtgta tgaggttatc acatcctgga tggaaaacat gccagaagga aaatggccta
     1381 actggatgat tggtggacca gacagttcac ggctgacttc gcgtttgggg aatcagtatg
     1441 tcaacgtgat gaacatgctt cttttcacac tccctggaac tcctataact tactatggag
     1501 aagaaattgg aatgggaaat attgtagccg caaatctcaa tgaaagctat gatattaata
     1561 cccttcgctc aaagtcacca atgcagtggg acaatagttc aaatgctggt ttttctgaag
     1621 ctagtaacac ctggttacct accaattcag attaccacac tgtgaatgtt gatgtccaaa
     1681 agactcagcc cagatcggct ttgaagttat atcaagattt aagtctactt catgccaatg
     1741 agctactcct caacaggggc tggttttgcc atttgaggaa tgacagccac tatgttgtgt
     1801 acacaagaga gctggatggc atcgacagaa tctttatcgt ggttctgaat tttggagaat
     1861 caacactgtt aaatctacat aatatgattt cgggccttcc cgctaaaatg agaataaggt
     1921 taagtaccaa ttctgccgac aaaggcagta aagttgatac aagtggcatt tttctggaca
     1981 agggagaggg actcatcttt gaacacaaca cgaagaatct ccttcatcgc caaacagctt
     2041 tcagagatag atgctttgtt tccaatcgag catgctattc cagtgtactg aacatactgt
     2101 atacctcgtg ttaggcacct ttatgaagag atgaagacac tggcatttca gtgggattgt
     2161 aagcatttgt aatagcttca tgtacagcat gctgcttggt gaacaatcat taattcttcg
     2221 atatttctgt agcttgaatg taactgcttt aagaaaggtt ctcaaatgtt ttgaaaaaaa
     2281 taaaatgttt aaaagtaaat tatggcttat aggagcttat aactttattc agatagcatc
     2341 aatcagggat gaccagaaca cattaggacc ccagattatt caaaaacttt aacgaatttt
     2401 aaggggaaga attttatctt ttcccttaaa atgcagtcat agaaattaga ggatgactca
     2461 ctgccacagt gtctaaaagc atttgctagc aaagaggcag gacactaatt tgtaaactgc
     2521 tcaactgttc tgactggaag ggaggcctgg agctctgcta tcaccaatcc ttcccttccc
     2581 tctactccac atccttctaa ggagcatgat ttgaaaatta ctttcctagg ttaatgggca
     2641 tgtgcatcaa tggagagaat agtataagca agtgagatgt agactaagca aaatttagat
     2701 ggagaagcac attttaaaaa attaataact taaaagtctc aagttattaa tttttttttt
     2761 gctaactcaa ttggaagtaa gactatgaaa tatttcagtg tgtttccaat tcccagttga
     2821 atgcagtgtt tcagaatttc aggtatttct taagatcctc gaaaacactg gtgctgtcaa
     2881 gtccaagttc ctcgtacagg aatttaattt gggctgtaat ctaaaagaaa cacattaaaa
     2941 aaattaaata gaaggccttt gtagtaaaa
//
LOCUS       NM_000342               4954 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens solute carrier family 4 member 1 (Diego blood group)
            (SLC4A1), mRNA.
ACCESSION   NM_000342
VERSION     NM_000342.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4954)
  AUTHORS   Deejai N, Sawasdee N, Nettuwakul C, Wanachiwanawin W, Sritippayawan
            S, Yenchitsomanus PT and Rungroj N.
  TITLE     Impaired trafficking and instability of mutant kidney anion
            exchanger 1 proteins associated with autosomal recessive distal
            renal tubular acidosis
  JOURNAL   BMC Med Genomics 15 (1), 228 (2022)
   PUBMED   36320073
  REMARK    GeneRIF: Impaired trafficking and instability of mutant kidney anion
            exchanger 1 proteins associated with autosomal recessive distal
            renal tubular acidosis. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4954)
  AUTHORS   Vallese F, Kim K, Yen LY, Johnston JD, Noble AJ, Cali T and Clarke
            OB.
  TITLE     Architecture of the human erythrocyte ankyrin-1 complex
  JOURNAL   Nat Struct Mol Biol 29 (7), 706-718 (2022)
   PUBMED   35835865
REFERENCE   3  (bases 1 to 4954)
  AUTHORS   Kuo MS, Chuang CH, Cheng HC, Lin HR, Wang JS and Hsu K.
  TITLE     Different Involvement of Band 3 in Red Cell Deformability and
            Osmotic Fragility-A Comparative GP.Mur Erythrocyte Study
  JOURNAL   Cells 10 (12), 3369 (2021)
   PUBMED   34943876
  REMARK    GeneRIF: Different Involvement of Band 3 in Red Cell Deformability
            and Osmotic Fragility-A Comparative GP.Mur Erythrocyte Study.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4954)
  AUTHORS   Bruce LJ, Beckmann R, Ribeiro ML, Peters LL, Chasis JA, Delaunay J,
            Mohandas N, Anstee DJ and Tanner MJ.
  TITLE     A band 3-based macrocomplex of integral and peripheral proteins in
            the RBC membrane
  JOURNAL   Blood 101 (10), 4180-4188 (2003)
   PUBMED   12531814
REFERENCE   5  (bases 1 to 4954)
  AUTHORS   Zhang D, Kiyatkin A, Bolin JT and Low PS.
  TITLE     Crystallographic structure and functional interpretation of the
            cytoplasmic domain of erythrocyte membrane band 3
  JOURNAL   Blood 96 (9), 2925-2933 (2000)
   PUBMED   11049968
REFERENCE   6  (bases 1 to 4954)
  AUTHORS   Peters LL, Shivdasani RA, Liu SC, Hanspal M, John KM, Gonzalez JM,
            Brugnara C, Gwynn B, Mohandas N, Alper SL, Orkin SH and Lux SE.
  TITLE     Anion exchanger 1 (band 3) is required to prevent erythrocyte
            membrane surface loss but not to form the membrane skeleton
  JOURNAL   Cell 86 (6), 917-927 (1996)
   PUBMED   8808627
REFERENCE   7  (bases 1 to 4954)
  AUTHORS   Alexander,R.T., Law,L., Gil-Pena,H., Greenbaum,L.A. and Santos,F.
  TITLE     Hereditary Distal Renal Tubular Acidosis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   31600044
REFERENCE   8  (bases 1 to 4954)
  AUTHORS   Bennett,V. and Stenbuck,P.J.
  TITLE     The membrane attachment protein for spectrin is associated with band
            3 in human erythrocyte membranes
  JOURNAL   Nature 280 (5722), 468-473 (1979)
   PUBMED   379653
REFERENCE   9  (bases 1 to 4954)
  AUTHORS   Drickamer,L.K.
  TITLE     Orientation of the band 3 polypeptide from human erythrocyte
            membranes. Identification of NH2-terminal sequence and site of
            carbohydrate attachment
  JOURNAL   J Biol Chem 253 (20), 7242-7248 (1978)
   PUBMED   701248
REFERENCE   10  (bases 1 to 4954)
  AUTHORS   Lewis,M., Kaita,H., McAlpine,P.J., Fletcher,J. and Moulds,J.J.
  TITLE     A 'new' blood group antigen Fra: incidence, inheritance and genetic
            linkage analysis
  JOURNAL   Vox Sang 35 (4), 251-254 (1978)
   PUBMED   695442
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X12609.1, M27819.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968832
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000262418.12/ ENSP00000262418.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC003043.2, X12609.1 and
            AC003102.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000342.3.
            Summary: The protein encoded by this gene is part of the anion
            exchanger (AE) family and is expressed in the erythrocyte plasma
            membrane, where it functions as a chloride/bicarbonate exchanger
            involved in carbon dioxide transport from tissues to lungs. The
            protein comprises two domains that are structurally and
            functionally distinct. The N-terminal 40kDa domain is located in
            the cytoplasm and acts as an attachment site for the red cell
            skeleton by binding ankyrin. The glycosylated C-terminal
            membrane-associated domain contains 12-14 membrane spanning
            segments and carries out the stilbene disulphonate-sensitive
            exchange transport of anions. The cytoplasmic tail at the extreme
            C-terminus of the membrane domain binds carbonic anhydrase II. The
            encoded protein associates with the red cell membrane protein
            glycophorin A and this association promotes the correct folding and
            translocation of the exchanger. This protein is predominantly
            dimeric but forms tetramers in the presence of ankyrin. Many
            mutations in this gene are known in man, and these mutations can
            lead to two types of disease: destabilization of red cell membrane
            leading to hereditary spherocytosis, and defective kidney acid
            secretion leading to distal renal tubular acidosis. Other mutations
            that do not give rise to disease result in novel blood group
            antigens, which form the Diego blood group system. Southeast Asian
            ovalocytosis (SAO, Melanesian ovalocytosis) results from the
            heterozygous presence of a deletion in the encoded protein and is
            common in areas where Plasmodium falciparum malaria is endemic. One
            null mutation in this gene is known, resulting in very severe
            anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments and published data.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4954
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..4954
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="solute carrier family 4 member 1 (Diego blood
                     group)"
                     /db_xref="GeneID:6521"
                     /db_xref="HGNC:HGNC:11027"
                     /db_xref="MIM:109270"
     misc_feature    76..78
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="upstream in-frame stop codon"
     CDS             151..2886
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="Waldner blood group; anion exchange protein 1; Swann
                     blood group; Froese blood group; Wright blood group;
                     erythrocyte membrane protein band 3; band 3 anion
                     exchanger; solute carrier family 4, anion exchanger, number
                     1; erythroid anion exchange protein; anion exchanger-1;
                     solute carrier family 4, anion exchanger, member 1
                     (erythrocyte membrane protein band 3, Diego blood group);
                     solute carrier family 4 (anion exchanger), member 1 (Diego
                     blood group)"
                     /codon_start=1
                     /product="band 3 anion transport protein"
                     /protein_id="NP_000333.1"
                     /db_xref="CCDS:CCDS11481.1"
                     /db_xref="GeneID:6521"
                     /db_xref="HGNC:HGNC:11027"
                     /db_xref="MIM:109270"
                     /translation="MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATD
                     YHTTSHPGTHKVYVELQELVMDEKNQELRWMEAARWVQLEENLGENGAWGRPHLSHLTF
                     WSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLKHSH
                     AGELEALGGVKPAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPP
                     DSEATLVLVGRADFLEQPVLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQL
                     GRAAATLMSERVFRIDAYMAQSRGELLHSLEGFLDCSLVLPPTDAPSEQALLSLVPVQR
                     ELLRRRYQSSPAKPDSSFYKGLDLNGGPDDPLQQTGQLFGGLVRDIRRRYPYYLSDITD
                     AFSPQVLAAVIFIYFAALSPAITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQP
                     LLVVGFSGPLLVFEEAFFSFCETNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFIS
                     RYTQEIFSFLISLIFIYETFSKLIKIFQDHPLQKTYNYNVLMVPKPQGPLPNTALLSLV
                     LMAGTFFFAMMLRKFKNSSYFPGKLRRVIGDFGVPISILIMVLVDFFIQDTYTQKLSVP
                     DGFKVSNSSARGWVIHPLGLRSEFPIWMMFASALPALLVFILIFLESQITTLIVSKPER
                     KMVKGSGFHLDLLLVVGMGGVAALFGMPWLSATTVRSVTHANALTVMGKASTPGAAAQI
                     QEVKEQRISGLLVAVLVGLSILMEPILSRIPLAVLFGIFLYMGVTSLSGIQLFDRILLL
                     FKPPKYHPDVPYVKRVKTWRMHLFTGIQIICLAVLWVVKSTPASLALPFVLILTVPLRR
                     VLLPLIFRNVELQCLDADDAKATFDEEEGRDEYDEVAMPV"
     misc_feature    151..270
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    151..153
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000269|PubMed:2790053,
                     ECO:0000269|PubMed:701248; propagated from
                     UniProtKB/Swiss-Prot (P02730.3); acetylation site"
     misc_feature    172..174
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:10942405,
                     ECO:0000269|PubMed:1998697; propagated from
                     UniProtKB/Swiss-Prot (P02730.3); phosphorylation site"
     misc_feature    187..243
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     Region: (Microbial infection) Interaction with P.falciparum
                     (isolate K1) FBPA. /evidence=ECO:0000269|PubMed:2204832"
     misc_feature    211..213
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:10942405,
                     ECO:0000269|PubMed:1998697; propagated from
                     UniProtKB/Swiss-Prot (P02730.3); phosphorylation site"
     misc_feature    286..288
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:1998697; propagated from
                     UniProtKB/Swiss-Prot (P02730.3); phosphorylation site"
     misc_feature    313..1020
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     Region: Globular"
     misc_feature    676..705
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     Region: Interaction with ANK1. /evidence=ECO:0000305"
     misc_feature    703..705
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P23562; propagated from
                     UniProtKB/Swiss-Prot (P02730.3); phosphorylation site"
     misc_feature    1060..1221
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     Region: Dimerization arm"
     misc_feature    1198..1200
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04919; propagated from
                     UniProtKB/Swiss-Prot (P02730.3); phosphorylation site"
     misc_feature    1225..1227
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:10942405; propagated from
                     UniProtKB/Swiss-Prot (P02730.3); phosphorylation site"
     misc_feature    1360..1431
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     transmembrane region"
     misc_feature    1456..1518
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     transmembrane region"
     misc_feature    1528..1578
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     transmembrane region"
     misc_feature    1606..1668
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     transmembrane region"
     misc_feature    1705..1773
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     transmembrane region"
     misc_feature    1825..2040
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     Region: Involved in anion transport"
     misc_feature    1861..1923
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     transmembrane region"
     misc_feature    1918..1920
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="Important for anion transport; propagated from
                     UniProtKB/Swiss-Prot (P02730.3); other site"
     misc_feature    1957..2019
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     transmembrane region"
     misc_feature    2074..2076
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:10861210,
                     ECO:0000269|PubMed:24121512, ECO:0000269|PubMed:35835865;
                     propagated from UniProtKB/Swiss-Prot (P02730.3);
                     glycosylation site"
     misc_feature    2140..2202
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     transmembrane region"
     misc_feature    2191..2193
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="Important for anion-proton cotransport; propagated
                     from UniProtKB/Swiss-Prot (P02730.3); other site"
     misc_feature    2251..2307
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     transmembrane region"
     misc_feature    2308..2433
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     Region: (Microbial infection) 5ABC region, interaction with
                     P.falciparum (isolate 3D7) MSP9.
                     /evidence=ECO:0000269|PubMed:14630931"
     misc_feature    2308..2361
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     transmembrane region"
     misc_feature    2431..2493
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     transmembrane region"
     misc_feature    2494..2550
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="propagated from UniProtKB/Swiss-Prot (P02730.3);
                     transmembrane region"
     misc_feature    2860..2862
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:10942405; propagated from
                     UniProtKB/Swiss-Prot (P02730.3); phosphorylation site"
     regulatory      4934..4939
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="hexamer: AATAAA"
     polyA_site      4954
                     /gene="SLC4A1"
                     /gene_synonym="AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR;
                     RTA1A; SAO; SPH4; SW; WD; WD1; WR"
                     /note="major polyA site"
ORIGIN
        1 agaacgagtg ggaacgtagc tggtcgcaga gggcaccagc ggctgcagga cttcaccaag
       61 ggaccctgag gctcgtgagc agggacccgc ggtgcgggtt atgctggggg ctcagatcac
      121 cgtagacaac tggacactca ggaccacgcc atggaggagc tgcaggatga ttatgaagac
      181 atgatggagg agaatctgga gcaggaggaa tatgaagacc cagacatccc cgagtcccag
      241 atggaggagc cggcagctca cgacaccgag gcaacagcca cagactacca caccacatca
      301 cacccgggta cccacaaggt ctatgtggag ctgcaggagc tggtgatgga cgaaaagaac
      361 caggagctga gatggatgga ggcggcgcgc tgggtgcaac tggaggagaa cctgggggag
      421 aatggggcct ggggccgccc gcacctctct cacctcacct tctggagcct cctagagctg
      481 cgtagagtct tcaccaaggg tactgtcctc ctagacctgc aagagacctc cctggctgga
      541 gtggccaacc aactgctaga caggtttatc tttgaagacc agatccggcc tcaggaccga
      601 gaggagctgc tccgggccct gctgcttaaa cacagccacg ctggagagct ggaggccctg
      661 gggggtgtga agcctgcagt cctgacacgc tctggggatc cttcacagcc tctgctcccc
      721 caacactcct cactggagac acagctcttc tgtgagcagg gagatggggg cacagaaggg
      781 cactcaccat ctggaattct ggaaaagatt cccccggatt cagaggccac gttggtgcta
      841 gtgggccgcg ccgacttcct ggagcagccg gtgctgggct tcgtgaggct gcaggaggca
      901 gcggagctgg aggcggtgga gctgccggtg cctatacgct tcctctttgt gttgctggga
      961 cctgaggccc cccacatcga ttacacccag cttggccggg ctgctgccac cctcatgtca
     1021 gagagggtgt tccgcataga tgcctacatg gctcagagcc gaggggagct gctgcactcc
     1081 ctagagggct tcctggactg cagcctagtg ctgcctccca ccgatgcccc ctccgagcag
     1141 gcactgctca gtctggtgcc tgtgcagagg gagctacttc gaaggcgcta tcagtccagc
     1201 cctgccaagc cagactccag cttctacaag ggcctagact taaatggggg cccagatgac
     1261 cctctgcagc agacaggcca gctcttcggg ggcctggtgc gtgatatccg gcgccgctac
     1321 ccctattacc tgagtgacat cacagatgca ttcagccccc aggtcctggc tgccgtcatc
     1381 ttcatctact ttgctgcact gtcacccgcc atcaccttcg gcggcctcct gggagaaaag
     1441 acccggaacc agatgggagt gtcggagctg ctgatctcca ctgcagtgca gggcattctc
     1501 ttcgccctgc tgggggctca gcccctgctt gtggtcggct tctcaggacc cctgctggtg
     1561 tttgaggaag ccttcttctc gttctgcgag accaacggtc tagagtacat cgtgggccgc
     1621 gtgtggatcg gcttctggct catcctgctg gtggtgttgg tggtggcctt cgagggtagc
     1681 ttcctggtcc gcttcatctc ccgctatacc caggagatct tctccttcct catttccctc
     1741 atcttcatct atgagacttt ctccaagctg atcaagatct tccaggacca cccactacag
     1801 aagacttata actacaacgt gttgatggtg cccaaacctc agggccccct gcccaacaca
     1861 gccctcctct cccttgtgct catggccggt accttcttct ttgccatgat gctgcgcaag
     1921 ttcaagaaca gctcctattt ccctggcaag ctgcgtcggg tcatcgggga cttcggggtc
     1981 cccatctcca tcctgatcat ggtcctggtg gatttcttca ttcaggatac ctacacccag
     2041 aaactctcgg tgcctgatgg cttcaaggtg tccaactcct cagcccgggg ctgggtcatc
     2101 cacccactgg gcttgcgttc cgagtttccc atctggatga tgtttgcctc cgccctgcct
     2161 gctctgctgg tcttcatcct catattcctg gagtctcaga tcaccacgct gattgtcagc
     2221 aaacctgagc gcaagatggt caagggctcc ggcttccacc tggacctgct gctggtagta
     2281 ggcatgggtg gggtggccgc cctctttggg atgccctggc tcagtgccac caccgtgcgt
     2341 tccgtcaccc atgccaacgc cctcactgtc atgggcaaag ccagcacccc aggggctgca
     2401 gcccagatcc aggaggtcaa agagcagcgg atcagtggac tcctggtcgc tgtgcttgtg
     2461 ggcctgtcca tcctcatgga gcccatcctg tcccgcatcc ccctggctgt actgtttggc
     2521 atcttcctct acatgggggt cacgtcgctc agcggcatcc agctctttga ccgcatcttg
     2581 cttctgttca agccacccaa gtatcaccca gatgtgccct acgtcaagcg ggtgaagacc
     2641 tggcgcatgc acttattcac gggcatccag atcatctgcc tggcagtgct gtgggtggtg
     2701 aagtccacgc cggcctccct ggccctgccc ttcgtcctca tcctcactgt gccgctgcgg
     2761 cgcgtcctgc tgccgctcat cttcaggaac gtggagcttc agtgtctgga tgctgatgat
     2821 gccaaggcaa cctttgatga ggaggaaggt cgggatgaat acgacgaagt ggccatgcct
     2881 gtgtgagggg cgggcccagg ccctagaccc tcccccacca ttccacatcc ccaccttcca
     2941 aggaaaagca gaagttcatg ggcacctcat ggactccagg atcctcctgg agcagcagct
     3001 gaggccccag ggctgtgggt ggggaaggaa ggcgtgtcca ggagaccttc cacaaagggt
     3061 agcctggctt ttctggctgg ggatggccga tggggcccac attagggggt ttgttgcaca
     3121 gtccctcctg ttgccacact ttcactgggg atcccgtgct ggaagactta gatctgagcc
     3181 ctccctcttc ccagcacagg caggggtaga agcaaaggca ggaggtgggt gagcgggtgg
     3241 ggtgcttgct gtgtgacctt gggcaagtcc cttgaccttt ccagcctata tttcctcttc
     3301 tgtaaaatgg gtatattgat gataataccc acattacagg atggttactg aggaccaaag
     3361 atacatgtaa aatagggctt tgtaaactcc acagggactg ttctatagca gtcatcattt
     3421 gtctttgaac gtacccaagg tcacatagct gggatttgaa ctgagccgtg cagctgggat
     3481 ttgaaccagg ccttctgatt tcaaggtccg agctctgtcc tctgtcagtc atgcgtccac
     3541 tttcccttcc cctgtgactc ctcccttccc cactctgctc ccagccccta ccttgagacc
     3601 ctcttctctg ggcccagaga gaggcgtcct ggtgaggaca aggtacaggc aaggatgatc
     3661 cagggattgg gcctgggact caggcctcct aagtgtttgg ttcctccctc caaacactca
     3721 ttagttcact cattcattca ttccacaaac atttactgag ggccccggaa tcagtggact
     3781 ccgaggggac tgagacaagc cctgccctgg ggtgggggtg gggggcaagg tacagttgat
     3841 tctacatttg gatagggagt gggggagggt gggaaggtag gggcgggaga gtgagggggt
     3901 ttgtaattta ttaattgcgt attttctaag agttttcaac atagtttggc ttcacacaca
     3961 acttcaggcc cctcatttga gagccattat cctcaactcc atctaaactg aatcttgggg
     4021 agaacccaga tctgaccaat tggggtagga gacagcaggc tctccaagaa catgggcaaa
     4081 tttatttttt tataaaacaa aaagataaaa agagttgaaa gacgtgaaag tggtgagaga
     4141 tggaggaaac agaatcagga agtggtagaa aagagaggag gtggctgggc gcagtggctc
     4201 acgtttgtaa tcccagcact ttgggaggcc aagttgggcg gatcatttga ggtcaggagt
     4261 ttgagaccag cctggccaac atggtgaaac cccgttacta ctaaaaatac aaaaattagc
     4321 tgggtgtctc gtggcaggca cctgtaatcc cagctactta gaaggctgag gcaagagaat
     4381 cacctgaacc caggaggtgg aggttgcagt gagccaagat tgcaccactg cactccagcc
     4441 tgggcaacag agcgagaccc tgtctcaaaa aaaaaaaaaa aaaaaaaaaa aaaacggaag
     4501 gaaacatcag ccttgggggc cacagactca acatgtgtgt gtggtggggt tccagcccaa
     4561 catagagtaa cattatttgt acctcccagg ctagctcagt ccatgggagg ctctcctgtc
     4621 cctgaaagct gacacccacc tttcaccact tcgcccatgc tacagttcag tttcctcgtc
     4681 tgtaaaatgg ggatgataat ggtacctacc ttgcagtgtt gttataagga ttaaaggaga
     4741 cagtgcaaga aaaggccttg gttggtgaag agcccaacct cggaggggag ctgctgggat
     4801 cctccttatc ttgactggga tgtccctgtc tccccctccc cttgctcctt gaacatggcc
     4861 aaggaaagtg aaaaacaaaa attattcact ctgctagcac ccttcccctt gatgcctggg
     4921 aataggtttt gccaataaac gtatctgtgt tgga
//
LOCUS       NM_000343               4832 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens solute carrier family 5 member 1 (SLC5A1), transcript
            variant 1, mRNA.
ACCESSION   NM_000343
VERSION     NM_000343.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4832)
  AUTHORS   Hosnut FO, Janecke AR, Sahin G, Vogel GF, Lafci NG, Bichler P,
            Muller T, Huber LA, Valovka T and Aksu AU.
  TITLE     SLC5A1 Variants in Turkish Patients with Congenital
            Glucose-Galactose Malabsorption
  JOURNAL   Genes (Basel) 14 (7), 1359 (2023)
   PUBMED   37510265
  REMARK    GeneRIF: SLC5A1 Variants in Turkish Patients with Congenital
            Glucose-Galactose Malabsorption. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4832)
  AUTHORS   Fiorentino TV, De Vito F, Suraci E, Marasco R, Hribal ML, Luzza F
            and Sesti G.
  TITLE     Obesity and overweight are linked to increased sodium-glucose
            cotransporter 1 and glucose transporter 5 levels in duodenum
  JOURNAL   Obesity (Silver Spring) 31 (3), 724-731 (2023)
   PUBMED   36746764
  REMARK    GeneRIF: Obesity and overweight are linked to increased
            sodium-glucose cotransporter 1 and glucose transporter 5 levels in
            duodenum.
REFERENCE   3  (bases 1 to 4832)
  AUTHORS   Chen H, Zhang X, Liao N, Ji Y, Mi L, Gan Y, Su Y and Wen F.
  TITLE     Decreased expression of Glucagon-like peptide-1 receptor and
            Sodium-glucose co-transporter 2 in patients with proliferative
            diabetic retinopathy
  JOURNAL   Front Endocrinol (Lausanne) 13, 1020252 (2022)
   PUBMED   36465606
  REMARK    GeneRIF: Decreased expression of Glucagon-like peptide-1 receptor
            and Sodium-glucose co-transporter 2 in patients with proliferative
            diabetic retinopathy. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4832)
  AUTHORS   Chen S, Wu Y, Wang S, Wu J, Wu X and Zheng Z.
  TITLE     A risk model of gene signatures for predicting platinum response and
            survival in ovarian cancer
  JOURNAL   J Ovarian Res 15 (1), 39 (2022)
   PUBMED   35361267
  REMARK    GeneRIF: A risk model of gene signatures for predicting platinum
            response and survival in ovarian cancer. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 4832)
  AUTHORS   Kamitori K, Shirota M and Fujiwara Y.
  TITLE     Structural Basis of the Selective Sugar Transport in Sodium-Glucose
            Cotransporters
  JOURNAL   J Mol Biol 434 (5), 167464 (2022)
   PUBMED   35077764
REFERENCE   6  (bases 1 to 4832)
  AUTHORS   Delezay O, Baghdiguian S and Fantini J.
  TITLE     The development of Na(+)-dependent glucose transport during
            differentiation of an intestinal epithelial cell clone is regulated
            by protein kinase C
  JOURNAL   J Biol Chem 270 (21), 12536-12541 (1995)
   PUBMED   7759499
REFERENCE   7  (bases 1 to 4832)
  AUTHORS   Wright EM, Loo DD, Panayotova-Heiermann M, Lostao MP, Hirayama BH,
            Mackenzie B, Boorer K and Zampighi G.
  TITLE     'Active' sugar transport in eukaryotes
  JOURNAL   J Exp Biol 196, 197-212 (1994)
   PUBMED   7823022
  REMARK    Review article
REFERENCE   8  (bases 1 to 4832)
  AUTHORS   Turk E, Martin MG and Wright EM.
  TITLE     Structure of the human Na+/glucose cotransporter gene SGLT1
  JOURNAL   J Biol Chem 269 (21), 15204-15209 (1994)
   PUBMED   8195156
REFERENCE   9  (bases 1 to 4832)
  AUTHORS   Turk E, Zabel B, Mundlos S, Dyer J and Wright EM.
  TITLE     Glucose/galactose malabsorption caused by a defect in the
            Na+/glucose cotransporter
  JOURNAL   Nature 350 (6316), 354-356 (1991)
   PUBMED   2008213
REFERENCE   10  (bases 1 to 4832)
  AUTHORS   Hediger MA, Turk E and Wright EM.
  TITLE     Homology of the human intestinal Na+/glucose and Escherichia coli
            Na+/proline cotransporters
  JOURNAL   Proc Natl Acad Sci U S A 86 (15), 5748-5752 (1989)
   PUBMED   2490366
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M24847.1, CR456579.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000266088.9/ ENSP00000266088.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DQ656053.2, AK312948.1 and
            Z83839.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000343.3.
            Summary: This gene encodes a member of the sodium-dependent glucose
            transporter (SGLT) family. The encoded integral membrane protein is
            the primary mediator of dietary glucose and galactose uptake from
            the intestinal lumen. Mutations in this gene have been associated
            with glucose-galactose malabsorption. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jan 2012].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4832
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.3"
     gene            1..4832
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="solute carrier family 5 member 1"
                     /db_xref="GeneID:6523"
                     /db_xref="HGNC:HGNC:11036"
                     /db_xref="MIM:182380"
     CDS             22..2016
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Na+/glucose cotransporter 1; high affinity sodium-glucose
                     cotransporter; solute carrier family 5 (sodium/glucose
                     cotransporter), member 1"
                     /codon_start=1
                     /product="sodium/glucose cotransporter 1 isoform 1"
                     /protein_id="NP_000334.1"
                     /db_xref="CCDS:CCDS13902.1"
                     /db_xref="GeneID:6523"
                     /db_xref="HGNC:HGNC:11036"
                     /db_xref="MIM:182380"
                     /translation="MDSSTWSPKTTAVTRPVETHELIRNAADISIIVIYFVVVMAVGLW
                     AMFSTNRGTVGGFFLAGRSMVWWPIGASLFASNIGSGHFVGLAGTGAASGIAIGGFEWN
                     ALVLVVVLGWLFVPIYIKAGVVTMPEYLRKRFGGQRIQVYLSLLSLLLYIFTKISADIF
                     SGAIFINLALGLNLYLAIFLLLAITALYTITGGLAAVIYTDTLQTVIMLVGSLILTGFA
                     FHEVGGYDAFMEKYMKAIPTIVSDGNTTFQEKCYTPRADSFHIFRDPLTGDLPWPGFIF
                     GMSILTLWYWCTDQVIVQRCLSAKNMSHVKGGCILCGYLKLMPMFIMVMPGMISRILYT
                     EKIACVVPSECEKYCGTKVGCTNIAYPTLVVELMPNGLRGLMLSVMLASLMSSLTSIFN
                     SASTLFTMDIYAKVRKRASEKELMIAGRLFILVLIGISIAWVPIVQSAQSGQLFDYIQS
                     ITSYLGPPIAAVFLLAIFWKRVNEPGAFWGLILGLLIGISRMITEFAYGTGSCMEPSNC
                     PTIICGVHYLYFAIILFAISFITIVVISLLTKPIPDVHLYRLCWSLRNSKEERIDLDAE
                     EENIQEGPKETIEIETQVPEKKKGIFRRAYDLFCGLEQHGAPKMTEEEEKAMKMKMTDT
                     SEKPLWRTVLNVNGIILVTVAVFCHAYFA"
     misc_feature    106..168
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P13866.1);
                     transmembrane region"
     misc_feature    148..150
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="Implicated in sodium coupling.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P13866.1); other site"
     misc_feature    214..276
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P13866.1);
                     transmembrane region"
     misc_feature    337..399
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P13866.1);
                     transmembrane region"
     misc_feature    448..510
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P13866.1);
                     transmembrane region"
     misc_feature    556..624
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P13866.1);
                     transmembrane region"
     misc_feature    646..708
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P13866.1);
                     transmembrane region"
     misc_feature    763..765
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:8567640; propagated from
                     UniProtKB/Swiss-Prot (P13866.1); glycosylation site"
     misc_feature    853..915
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P13866.1);
                     transmembrane region"
     misc_feature    919..921
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="Implicated in sodium coupling.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P13866.1); other site"
     misc_feature    961..1023
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P13866.1);
                     transmembrane region"
     misc_feature    1162..1224
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P13866.1);
                     transmembrane region"
     misc_feature    1291..1353
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P13866.1);
                     transmembrane region"
     misc_feature    1387..1449
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P13866.1);
                     transmembrane region"
     misc_feature    1399..1401
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="Involved in sugar-binding/transport and inhibitor
                     binding. /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (P13866.1); other site"
     misc_feature    1474..1536
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P13866.1);
                     transmembrane region"
     misc_feature    1780..1782
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8C3K6; propagated from
                     UniProtKB/Swiss-Prot (P13866.1); phosphorylation site"
     misc_feature    1951..2013
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P13866.1);
                     transmembrane region"
     regulatory      2147..2152
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="hexamer: ATTATA"
     polyA_site      2169
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="major polyA site"
     regulatory      2442..2447
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="hexamer: AAGAAA"
     polyA_site      2462
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="major polyA site"
     regulatory      2794..2799
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="hexamer: AATAAA"
     polyA_site      2814
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
     regulatory      4280..4285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="hexamer: AATAAA"
     polyA_site      4305
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
     regulatory      4754..4759
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
                     /note="hexamer: TATAAA"
     polyA_site      4775
                     /gene="SLC5A1"
                     /gene_synonym="D22S675; NAGT; SGLT-1; SGLT1"
ORIGIN
        1 gaaggacgca acgctgccac catggacagt agcacctgga gccccaagac caccgcggtc
       61 acccggcctg ttgagaccca cgagctcatt cgcaatgcag ccgatatctc catcatcgtt
      121 atctacttcg tggtagtgat ggccgtcgga ctgtgggcta tgttttccac caatcgtggg
      181 actgttggag gcttcttcct ggcaggccga agtatggtgt ggtggccgat tggagcctcc
      241 ctctttgcta gtaacattgg aagtggccac tttgtggggc tggccgggac tggggcagct
      301 tcaggcatcg ccattggagg ctttgaatgg aatgccctgg ttttggtggt tgtgctgggc
      361 tggctgtttg tccccatcta tattaaggct ggggtggtga caatgccaga gtacctgagg
      421 aagcggtttg gaggccagcg gatccaggtc tacctttccc ttctgtccct gctgctctac
      481 attttcacca agatctcggc agacatcttc tcgggggcca tattcatcaa tctggcctta
      541 ggcctgaatc tgtatttagc catctttctc ttattggcaa tcactgccct ttacacaatt
      601 acagggggcc tggcggcggt gatttacacg gacaccttgc agacggtgat catgctggtg
      661 gggtctttaa tcctgactgg gtttgctttt cacgaagtgg gaggctatga cgccttcatg
      721 gaaaagtaca tgaaagccat tccaaccata gtgtctgatg gcaacaccac ctttcaggaa
      781 aaatgctaca ctccaagggc cgactccttc cacatcttcc gagatcccct cacgggagac
      841 ctcccatggc ctgggttcat ctttgggatg tccatcctta ccttgtggta ctggtgcaca
      901 gatcaggtca ttgtgcagcg ctgcctctca gccaagaata tgtctcacgt gaagggtggc
      961 tgcatcctgt gtgggtatct aaagctgatg cccatgttca tcatggtgat gccaggaatg
     1021 atcagccgca ttctgtacac agaaaaaatt gcctgtgtcg tcccttcaga atgtgagaaa
     1081 tattgcggta ccaaggttgg ctgtaccaac atcgcctatc caaccttagt ggtggagctc
     1141 atgcccaatg gactgcgagg cctgatgcta tcagtcatgc tggcctccct catgagctcc
     1201 ctgacctcca tcttcaacag cgccagcacc ctcttcacca tggacatcta cgccaaggtc
     1261 cgcaagagag catctgagaa agagctcatg attgccggaa ggttgtttat cctggtgctg
     1321 attggcatca gcatcgcctg ggtgcccatt gtgcagtcag cacaaagtgg gcaactcttc
     1381 gattacatcc agtccatcac cagttacttg ggaccaccca ttgcggctgt cttcctgctt
     1441 gctattttct ggaagagagt caatgagcca ggagcctttt ggggactgat cctaggactt
     1501 ctgattggga tttcacgtat gattactgag tttgcttatg gaaccgggag ctgcatggag
     1561 cccagcaact gtcccacgat tatctgtggg gtgcactact tgtactttgc cattatcctc
     1621 ttcgccattt ctttcatcac catcgtggtc atctccctcc tcaccaaacc cattccggat
     1681 gtgcatctct accgtctgtg ttggagcctg cgcaacagca aagaggagcg tattgacctg
     1741 gatgcggaag aggagaacat ccaagaaggc cctaaggaga ccattgaaat agaaacacaa
     1801 gttcctgaga agaaaaaagg aatcttcagg agagcctatg acctattttg tgggctagag
     1861 cagcacggtg cacccaagat gactgaggaa gaggagaaag ccatgaagat gaagatgacg
     1921 gacacctctg agaagccttt gtggaggaca gtgttgaacg tcaatggcat catcctggtg
     1981 accgtggctg tcttttgcca tgcatatttt gcctgagtcc taccttttgc tgtagattta
     2041 ccatggctgg actcttactc accttccttt agtctcgtcc tgtggtgttg aagggaaatc
     2101 agccagttgt aaattttgcc caggtggata aatgtgtaca tgtgtaatta taggctagct
     2161 ggaagaaaac cattagtttg ctgttaattt atgcatttga agccagtgtg atacagccat
     2221 ctgtacctac tggagctgca gaagggaagt ccactcagtc acatccagaa aaaggcagac
     2281 taagaatcag aagccatgtg attgatgtct gacgtgagtc tgtctcaggt agattccggg
     2341 tgtcagtgtg gtttataatc cttgaatatt gttttagaaa ctttggtctc cctggttcct
     2401 gccacttttc ctgtccgtcc tcctccccat ttttttttta aaagaaagct gttttcccct
     2461 catcatatcc ctcttgagtt ttgcctggac tttccctctc aagtgtgtca atcaggtaaa
     2521 ctgaggaatg catggaagct gaggatggag cttgatgggc tccctgtcct gggtgtttgc
     2581 tctctgaagt ggaggcctga ggaaggtagt acttccacaa aagggaggga cccgggcccc
     2641 agcctcaagc tagtggggga ggcagatagc ctgaatccag gggattttct gggcttctta
     2701 aaatgtccat tgtgagttcc ccgtgtttgg gattccactc attttggcat tcacagtgcc
     2761 tggaatgtct tagattttca gcaatgcgtg ttgaataaat gaatgacata ggcatttatt
     2821 tttaaatctt tgcttgcttt ttacatgagc ctggccctta gttaaccttt tcttgtggct
     2881 acacaaagta tgctcactgg ttactaatga cttgggatgc atttgtcaaa ctgattatat
     2941 tagttttcta gggatgccat aacaaagtag cacagaccag atggctcaag cagcagacat
     3001 ttattttctc acagttctag aggctagaag ttggaggcca agatgtcagc agggttggtt
     3061 tcttctgagg cctctctcct tggttgcaga tggtcatatc tcactctgtc ttccgtggcc
     3121 ttccttttgt ctgtgtccta aatctactct tctgataagg acatcagtca tattggaata
     3181 ggacccaccc taatgtcttc attttaatca cctctttaaa gcccctacct ccaaatacag
     3241 tcacactgtg agaaactgag ggttaggaag tcagcaagtg agtcttgaag agatactaaa
     3301 caaacccaca acacagataa agtatgcatt ttggagattt ccaagccaga gtctcccgtg
     3361 aaaaaggtaa acggaagcag ttattgtgca gcaaaaggaa aaagaattac aaactgaacg
     3421 tatgtaggtg aggcaaggca gggtagggca gggcctttgg gtaggctgat cagagggttt
     3481 ttcaacaata aatcaatggg aatgcatttg ttgctcccag gaccctggca ccttgactct
     3541 ggtactatag catgtcagca aatacaagca aagcccaaca ctctgatttg catttatgcc
     3601 aatctaaact atccggtgtt tagtttgatt ttttgagtgc aggttcattc aaggaccagg
     3661 ttcccttgtg ctcagggtga agtagaacca gaaaacatcg ttatccattc ccagaagttt
     3721 tggaagagcc ttggtagaaa agcagaagct gctttgaccg tgaaaatatt tgactcctat
     3781 cagtttttgg tcaggagaag atatccacct agaccaacct gaggagaagg ctcagagtac
     3841 agatataccc cgagcaacgt gatcaatgtc cttgaacctt catttttcat ctgaaaacag
     3901 agacataaat gcctggctca cagatttaaa tgttatacat tgacagcatt tatcagtata
     3961 acatttattt aaataagtag gtgctcaata ggtgttggtc ttctaacttg tctacatccc
     4021 atccccattc cagggtcttc agaattgaag gagagatgtt gtatcactgt tagaaggctg
     4081 ctttgggaca ttctgcagca gggaggaggg actgtcaacc cctacaccat gaccaccaag
     4141 ttcctcacct tggctgagtc cctaaaactc tctgaacctc aggttcctcc aagcataatg
     4201 cagacttcac agagctgttg taaagattag gtgaggtcaa ttgatactgc ttaaaaggcc
     4261 cggtccgtag aaaatgccca ataaacatta ctgctttccc cctcacccta ctgcctgaaa
     4321 aaatattaca cctgtgagac tgactttgag aaccagtgtg ggtggggagt tgtgcatata
     4381 aactatttaa tgagtaccaa acacaaaagt caagcttgta aaatatcagg ccttgcccca
     4441 gaaagacaaa taccacatga tctcactgat atgtagaatc ttaaaaagtc aaactcagaa
     4501 gcagagagta gaatgatggt tatcaagggc tgggggaggg agggactggg gagatgttgg
     4561 tcaaatgata caaaggttta gttaggtgga ataagttcag aaaatcaatt gtacaatgta
     4621 tcaattatag ttaatagcaa tataacatat acttgaaaat tgctgagagt agtgtgagtg
     4681 ttctaccaca aaaaaatatg tgcagtaata gatgttaatt accttaattt agtcatttca
     4741 caatatgtac atatataaaa atatgttgta tgccatgagt atatataatt attatttgtg
     4801 aatttaaaaa ataaaaataa tttccaaaaa aa
//
LOCUS       NM_000344               1482 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens survival of motor neuron 1, telomeric (SMN1),
            transcript variant d, mRNA.
ACCESSION   NM_000344
VERSION     NM_000344.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1482)
  AUTHORS   Fortuna TR, Kour S, Chimata AV, Muinos-Buhl A, Anderson EN, Nelson
            Iv CH, Ward C, Chauhan O, O'Brien C, Rajasundaram D, Rajan DS, Wirth
            B, Singh A and Pandey UB.
  TITLE     SMN regulates GEMIN5 expression and acts as a modifier of
            GEMIN5-mediated neurodegeneration
  JOURNAL   Acta Neuropathol 146 (3), 477-498 (2023)
   PUBMED   37369805
  REMARK    GeneRIF: SMN regulates GEMIN5 expression and acts as a modifier of
            GEMIN5-mediated neurodegeneration.
REFERENCE   2  (bases 1 to 1482)
  AUTHORS   Kimizu T, Ida S, Oki K, Shima M, Nishimoto S, Nakajima K, Ikeda T,
            Mogami Y, Yanagihara K, Matsuda K, Nishi E, Hasegawa Y, Nozaki M,
            Fujita H, Irie A, Katayama T, Okamoto N, Imai K, Nishio H and Suzuki
            Y.
  TITLE     Newborn screening for spinal muscular atrophy in Osaka -challenges
            in a Japanese pilot study
  JOURNAL   Brain Dev 45 (7), 363-371 (2023)
   PUBMED   36973114
  REMARK    GeneRIF: Newborn screening for spinal muscular atrophy in Osaka
            -challenges in a Japanese pilot study.
REFERENCE   3  (bases 1 to 1482)
  AUTHORS   Davidson JE, Russell JS, Martinez NN, Mowat DR, Jones KJ, Kirk EP,
            Kariyawasam D, Farrar M and D'Silva A.
  TITLE     The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic
            Children with SMA and the Significance of SMN1 Exon 8 in Carriers
  JOURNAL   Genes (Basel) 14 (7), 1403 (2023)
   PUBMED   37510307
  REMARK    GeneRIF: The Carrier Frequency of Two SMN1 Genes in Parents of
            Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in
            Carriers. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1482)
  AUTHORS   Gabanella F, Onori A, Pisani C, Fiore M, Ferraguti G, Colizza A, de
            Vincentiis M, Ceccanti M, Inghilleri M, Corbi N, Passananti C and Di
            Certo MG.
  TITLE     SMN Deficiency Destabilizes ABCA1 Expression in Human Fibroblasts:
            Novel Insights in Pathophysiology of Spinal Muscular Atrophy
  JOURNAL   Int J Mol Sci 24 (3), 2916 (2023)
   PUBMED   36769246
  REMARK    GeneRIF: SMN Deficiency Destabilizes ABCA1 Expression in Human
            Fibroblasts: Novel Insights in Pathophysiology of Spinal Muscular
            Atrophy. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1482)
  AUTHORS   Trifunov S, Natera-de Benito D, Carrera-Garcia L, Codina A,
            Exposito-Escudero J, Ortez C, Medina J, Torres Alcala S, Bernal S,
            Alias L, Badosa C, Balsells S, Alcolea D, Nascimento A and
            Jimenez-Mallebrera C.
  TITLE     Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in
            Individuals with Spinal Muscular Atrophy Type 2 Treated with
            Nusinersen
  JOURNAL   J Neuromuscul Dis 10 (4), 653-665 (2023)
   PUBMED   37038823
  REMARK    GeneRIF: Full-Length SMN Transcript in Extracellular Vesicles as
            Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated
            with Nusinersen.
REFERENCE   6  (bases 1 to 1482)
  AUTHORS   Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Burglen L, Cruaud C,
            Urtizberea JA, Colomer J, Munnich A, Baiget M et al.
  TITLE     A frame-shift deletion in the survival motor neuron gene in Spanish
            spinal muscular atrophy patients
  JOURNAL   Nat Genet 11 (3), 335-337 (1995)
   PUBMED   7581461
REFERENCE   7  (bases 1 to 1482)
  AUTHORS   Gennarelli M, Lucarelli M, Capon F, Pizzuti A, Merlini L, Angelini
            C, Novelli G and Dallapiccola B.
  TITLE     Survival motor neuron gene transcript analysis in muscles from
            spinal muscular atrophy patients
  JOURNAL   Biochem Biophys Res Commun 213 (1), 342-348 (1995)
   PUBMED   7639755
REFERENCE   8  (bases 1 to 1482)
  AUTHORS   Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L,
            Benichou B, Cruaud C, Millasseau P, Zeviani M et al.
  TITLE     Identification and characterization of a spinal muscular
            atrophy-determining gene
  JOURNAL   Cell 80 (1), 155-165 (1995)
   PUBMED   7813012
REFERENCE   9  (bases 1 to 1482)
  AUTHORS   van der Steege G, Draaijers TG, Grootscholten PM, Osinga J, Anzevino
            R, Velona I, Den Dunnen JT, Scheffer H, Brahe C, van Ommen GJ et al.
  TITLE     A provisional transcript map of the spinal muscular atrophy (SMA)
            critical region
  JOURNAL   Eur J Hum Genet 3 (2), 87-95 (1995)
   PUBMED   7552146
REFERENCE   10  (bases 1 to 1482)
  AUTHORS   Prior,T.W., Leach,M.E. and Finanger,E.
  TITLE     Spinal Muscular Atrophy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301526
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC062723.1, U18423.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380707.9/ ENSP00000370083.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139834.2, BC062723.1 and
            AC044797.5.
            On Feb 5, 2020 this sequence version replaced NM_000344.3.
            Summary: This gene is part of a 500 kb inverted duplication on
            chromosome 5q13. This duplicated region contains at least four
            genes and repetitive elements which make it prone to rearrangements
            and deletions. The repetitiveness and complexity of the sequence
            have also caused difficulty in determining the organization of this
            genomic region. The telomeric and centromeric copies of this gene
            are nearly identical and encode the same protein. However,
            mutations in this gene, the telomeric copy, are associated with
            spinal muscular atrophy; mutations in the centromeric copy do not
            lead to disease. The centromeric copy may be a modifier of disease
            caused by mutation in the telomeric copy. The critical sequence
            difference between the two genes is a single nucleotide in exon 7,
            which is thought to be an exon splice enhancer. Note that the nine
            exons of both the telomeric and centromeric copies are designated
            historically as exon 1, 2a, 2b, and 3-8. It is thought that gene
            conversion events may involve the two genes, leading to varying
            copy numbers of each gene. The protein encoded by this gene
            localizes to both the cytoplasm and the nucleus. Within the
            nucleus, the protein localizes to subnuclear bodies called gems
            which are found near coiled bodies containing high concentrations
            of small ribonucleoproteins (snRNPs). This protein forms
            heteromeric complexes with proteins such as SIP1 and GEMIN4, and
            also interacts with several proteins known to be involved in the
            biogenesis of snRNPs, such as hnRNP U protein and the small
            nucleolar RNA binding protein. Multiple transcript variants
            encoding distinct isoforms have been described. [provided by
            RefSeq, Jul 2014].
            Transcript Variant: This variant (d) represents the longest
            transcript and encodes the longest isoform (d). This variant is
            thought to be the predominant transcript produced by this copy of
            the gene.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1482
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..1482
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="survival of motor neuron 1, telomeric"
                     /db_xref="GeneID:6606"
                     /db_xref="HGNC:HGNC:11117"
                     /db_xref="MIM:600354"
     CDS             18..902
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="isoform d is encoded by transcript variant d;
                     gemin-1; component of gems 1; survival motor neuron 1
                     protein; tudor domain containing 16A"
                     /codon_start=1
                     /product="survival motor neuron protein isoform d"
                     /protein_id="NP_000335.1"
                     /db_xref="CCDS:CCDS34181.1"
                     /db_xref="GeneID:6606"
                     /db_xref="HGNC:HGNC:11117"
                     /db_xref="MIM:600354"
                     /translation="MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDK
                     AVASFKHALKNGDICETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSAIWSE
                     DGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENENES
                     QVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPP
                     PPPPHLLSCWLPPFPSGPPIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMGFR
                     QNQKEGRCSHSLN"
     misc_feature    18..113
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16637.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    21..23
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q16637.1); acetylation site"
     misc_feature    27..29
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:21609790,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q16637.1);
                     phosphorylation site"
     misc_feature    30..32
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:21609790,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q16637.1); phosphorylation site"
     misc_feature    39..41
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:21609790,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q16637.1); phosphorylation site"
     misc_feature    90..92
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q16637.1); phosphorylation site"
     misc_feature    93..170
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16637.1);
                     Region: Interacts with GEMIN2.
                     /evidence=ECO:0000269|PubMed:21816274,
                     ECO:0000269|PubMed:22607171, ECO:0000269|PubMed:26092730"
     misc_feature    99..101
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q16637.1);
                     phosphorylation site"
     misc_feature    108..110
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:17487921, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q16637.1);
                     phosphorylation site"
     misc_feature    192..281
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16637.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    222..224
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q16637.1); phosphorylation site"
     misc_feature    270..272
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="Phosphothreonine, by PKA.
                     /evidence=ECO:0000269|PubMed:21609790; propagated from
                     UniProtKB/Swiss-Prot (Q16637.1); phosphorylation site"
     misc_feature    306..644
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16637.1);
                     Region: Required for interaction with RPP20/POP7"
     misc_feature    483..683
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16637.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    576..578
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:21609790; propagated from
                     UniProtKB/Swiss-Prot (Q16637.1); phosphorylation site"
     misc_feature    735..818
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16637.1);
                     Region: P2 (binding site for SNRPB)"
     misc_feature    771..857
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16637.1);
                     Region: Involved in homooligomerization.
                     /evidence=ECO:0000269|PubMed:10500148,
                     ECO:0000269|PubMed:14715275, ECO:0000269|PubMed:17178713,
                     ECO:0000269|PubMed:21816274, ECO:0000269|PubMed:23022347,
                     ECO:0000269|PubMed:26092730"
     misc_feature    852..899
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4;
                     SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16637.1);
                     Region: Required for interaction with SYNCRIP.
                     /evidence=ECO:0000269|PubMed:11574476"
ORIGIN
        1 gcacccgcgg gtttgctatg gcgatgagca gcggcggcag tggtggcggc gtcccggagc
       61 aggaggattc cgtgctgttc cggcgcggca caggccagag cgatgattct gacatttggg
      121 atgatacagc actgataaaa gcatatgata aagctgtggc ttcatttaag catgctctaa
      181 agaatggtga catttgtgaa acttcgggta aaccaaaaac cacacctaaa agaaaacctg
      241 ctaagaagaa taaaagccaa aagaagaata ctgcagcttc cttacaacag tggaaagttg
      301 gggacaaatg ttctgccatt tggtcagaag acggttgcat ttacccagct accattgctt
      361 caattgattt taagagagaa acctgtgttg tggtttacac tggatatgga aatagagagg
      421 agcaaaatct gtccgatcta ctttccccaa tctgtgaagt agctaataat atagaacaaa
      481 atgctcaaga gaatgaaaat gaaagccaag tttcaacaga tgaaagtgag aactccaggt
      541 ctcctggaaa taaatcagat aacatcaagc ccaaatctgc tccatggaac tcttttctcc
      601 ctccaccacc ccccatgcca gggccaagac tgggaccagg aaagccaggt ctaaaattca
      661 atggcccacc accgccaccg ccaccaccac caccccactt actatcatgc tggctgcctc
      721 catttccttc tggaccacca ataattcccc caccacctcc catatgtcca gattctcttg
      781 atgatgctga tgctttggga agtatgttaa tttcatggta catgagtggc tatcatactg
      841 gctattatat gggtttcaga caaaatcaaa aagaaggaag gtgctcacat tccttaaatt
      901 aaggagaaat gctggcatag agcagcacta aatgacacca ctaaagaaac gatcagacag
      961 atctggaatg tgaagcgtta tagaagataa ctggcctcat ttcttcaaaa tatcaagtgt
     1021 tgggaaagaa aaaaggaagt ggaatgggta actcttcttg attaaaagtt atgtaataac
     1081 caaatgcaat gtgaaatatt ttactggact ctattttgaa aaaccatctg taaaagactg
     1141 gggtgggggt gggaggccag cacggtggtg aggcagttga gaaaatttga atgtggatta
     1201 gattttgaat gatattggat aattattggt aattttatga gctgtgagaa gggtgttgta
     1261 gtttataaaa gactgtctta atttgcatac ttaagcattt aggaatgaag tgttagagtg
     1321 tcttaaaatg tttcaaatgg tttaacaaaa tgtatgtgag gcgtatgtgg caaaatgtta
     1381 cagaatctaa ctggtggaca tggctgttca ttgtactgtt tttttctatc ttctatatgt
     1441 ttaaaagtat ataataaaaa tatttaattt ttttttaaat ta
//
LOCUS       NM_000345               3177 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens synuclein alpha (SNCA), transcript variant 1, mRNA.
ACCESSION   NM_000345
VERSION     NM_000345.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3177)
  AUTHORS   Brembati V, Faustini G, Longhena F, Outeiro TF and Bellucci A.
  TITLE     Changes in alpha-Synuclein Posttranslational Modifications in an
            AAV-Based Mouse Model of Parkinson's Disease
  JOURNAL   Int J Mol Sci 24 (17), 13435 (2023)
   PUBMED   37686236
  REMARK    GeneRIF: Changes in alpha-Synuclein Posttranslational Modifications
            in an AAV-Based Mouse Model of Parkinson's Disease. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 3177)
  AUTHORS   Battis K, Xiang W and Winkler J.
  TITLE     The Bidirectional Interplay of alpha-Synuclein with Lipids in the
            Central Nervous System and Its Implications for the Pathogenesis of
            Parkinson's Disease
  JOURNAL   Int J Mol Sci 24 (17), 13270 (2023)
   PUBMED   37686080
  REMARK    GeneRIF: The Bidirectional Interplay of alpha-Synuclein with Lipids
            in the Central Nervous System and Its Implications for the
            Pathogenesis of Parkinson's Disease. Review article Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 3177)
  AUTHORS   Wojewska MJ, Otero-Jimenez M, Guijarro-Nuez J and Alegre-Abarrategui
            J.
  TITLE     Beyond Strains: Molecular Diversity in Alpha-Synuclein at the Center
            of Disease Heterogeneity
  JOURNAL   Int J Mol Sci 24 (17), 13199 (2023)
   PUBMED   37686005
  REMARK    GeneRIF: Beyond Strains: Molecular Diversity in Alpha-Synuclein at
            the Center of Disease Heterogeneity. Review article Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 3177)
  AUTHORS   Horvath I, Mohamed KA, Kumar R and Wittung-Stafshede P.
  TITLE     Amyloids of alpha-Synuclein Promote Chemical Transformations of
            Neuronal Cell Metabolites
  JOURNAL   Int J Mol Sci 24 (16), 12849 (2023)
   PUBMED   37629028
  REMARK    GeneRIF: Amyloids of alpha-Synuclein Promote Chemical
            Transformations of Neuronal Cell Metabolites. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 3177)
  AUTHORS   Juarez-Vaquera VH, Rosetti-Sciutto MF, Morales-Ruiz V and
            Adalid-Peralta LV.
  TITLE     Meta-analysis to Implement Alpha-Synuclein in Extracellular Vesicles
            as a Potential Biomarker for Parkinsons Disease
  JOURNAL   Rev Invest Clin 75 (4), 193-202 (2023)
   PUBMED   37607031
  REMARK    GeneRIF: Meta-analysis to Implement Alpha-Synuclein in Extracellular
            Vesicles as a Potential Biomarker for Parkinsons Disease.
REFERENCE   6  (bases 1 to 3177)
  AUTHORS   Spillantini MG, Divane A and Goedert M.
  TITLE     Assignment of human alpha-synuclein (SNCA) and beta-synuclein (SNCB)
            genes to chromosomes 4q21 and 5q35
  JOURNAL   Genomics 27 (2), 379-381 (1995)
   PUBMED   7558013
REFERENCE   7  (bases 1 to 3177)
  AUTHORS   Chen X, de Silva HA, Pettenati MJ, Rao PN, St George-Hyslop P, Roses
            AD, Xia Y, Horsburgh K, Ueda K and Saitoh T.
  TITLE     The human NACP/alpha-synuclein gene: chromosome assignment to
            4q21.3-q22 and TaqI RFLP analysis
  JOURNAL   Genomics 26 (2), 425-427 (1995)
   PUBMED   7601479
REFERENCE   8  (bases 1 to 3177)
  AUTHORS   Campion D, Martin C, Heilig R, Charbonnier F, Moreau V, Flaman JM,
            Petit JL, Hannequin D, Brice A and Frebourg T.
  TITLE     The NACP/synuclein gene: chromosomal assignment and screening for
            alterations in Alzheimer disease
  JOURNAL   Genomics 26 (2), 254-257 (1995)
   PUBMED   7601450
REFERENCE   9  (bases 1 to 3177)
  AUTHORS   Ueda K, Saitoh T and Mori H.
  TITLE     Tissue-dependent alternative splicing of mRNA for NACP, the
            precursor of non-A beta component of Alzheimer's disease amyloid
  JOURNAL   Biochem Biophys Res Commun 205 (2), 1366-1372 (1994)
   PUBMED   7802671
REFERENCE   10  (bases 1 to 3177)
  AUTHORS   Cook Shukla,L., Schulze,J., Farlow,J., Pankratz,N.D., Wojcieszek,J.
            and Foroud,T.
  TITLE     Parkinson Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301402
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.57584.1,
            SRR1803612.110177.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2149004 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000394991.8/ ENSP00000378442.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AI815523.1, BC108275.1 and
            AC097478.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000345.3.
            Summary: Alpha-synuclein is a member of the synuclein family, which
            also includes beta- and gamma-synuclein. Synucleins are abundantly
            expressed in the brain and alpha- and beta-synuclein inhibit
            phospholipase D2 selectively. SNCA may serve to integrate
            presynaptic signaling and membrane trafficking. Defects in SNCA
            have been implicated in the pathogenesis of Parkinson disease. SNCA
            peptides are a major component of amyloid plaques in the brains of
            patients with Alzheimer's disease. Alternatively spliced
            transcripts encoding different isoforms have been identified for
            this gene. [provided by RefSeq, Feb 2016].
            Transcript Variant: This variant (1, also known as NACP140) is the
            longest transcript and encodes the longer isoform (NACP140).
            Variants 1, 2, and 3 all encode the same isoform.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3177
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q22.1"
     gene            1..3177
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="synuclein alpha"
                     /db_xref="GeneID:6622"
                     /db_xref="HGNC:HGNC:11138"
                     /db_xref="MIM:163890"
     misc_feature    208..210
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="upstream in-frame stop codon"
     CDS             226..648
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="isoform NACP140 is encoded by transcript variant 1;
                     non A-beta component of AD amyloid; synuclein alpha-140;
                     synuclein, alpha (non A4 component of amyloid precursor);
                     I+/--synuclein"
                     /codon_start=1
                     /product="alpha-synuclein isoform NACP140"
                     /protein_id="NP_000336.1"
                     /db_xref="CCDS:CCDS3634.1"
                     /db_xref="GeneID:6622"
                     /db_xref="HGNC:HGNC:11138"
                     /db_xref="MIM:163890"
                     /translation="MDVFMKGLSKAKEGVVAAAEKTKQGVAEAAGKTKEGVLYVGSKTK
                     EGVVHGVATVAEKTKEQVTNVGGAVVTGVTAVAQKTVEGAGSIAAATGFVKKDQLGKNE
                     EGAPQEGILEDMPVDPDNEAYEMPSEEGYQDYEPEA"
     misc_feature    226..228
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000269|PubMed:22407793; propagated from
                     UniProtKB/Swiss-Prot (P37840.1); acetylation site"
     misc_feature    283..426
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P37840.1);
                     Region: 4 X 11 AA tandem repeats of
                     [EGS]-K-T-K-[EQ]-[GQ]-V-X(4)"
     misc_feature    484..486
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:10617630; propagated from
                     UniProtKB/Swiss-Prot (P37840.1); phosphorylation site"
     misc_feature    523..645
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P37840.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    556..645
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P37840.1);
                     Region: Interaction with SERF1A.
                     /evidence=ECO:0000269|PubMed:22854022"
     misc_feature    598..600
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="Phosphotyrosine, by FYN.
                     /evidence=ECO:0000269|PubMed:11162638,
                     ECO:0000269|PubMed:12893833; propagated from
                     UniProtKB/Swiss-Prot (P37840.1); phosphorylation site"
     misc_feature    610..612
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="Phosphoserine, by BARK1, PLK2, CK2, CK1 and GRK5.
                     /evidence=ECO:0000269|PubMed:10617630,
                     ECO:0000269|PubMed:11813001, ECO:0000269|PubMed:24936070;
                     propagated from UniProtKB/Swiss-Prot (P37840.1);
                     phosphorylation site"
     regulatory      1196..1201
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="hexamer: AATAAA"
     polyA_site      1221
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="major polyA site"
     regulatory      2142..2147
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="hexamer: AATAAA"
     polyA_site      2162
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
     regulatory      3156..3161
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
                     /note="hexamer: AATATA"
     polyA_site      3177
                     /gene="SNCA"
                     /gene_synonym="NACP; PARK1; PARK4; PD1"
ORIGIN
        1 ggcgacgacc agaaggggcc caagagaggg ggcgagcgac cgagcgccgc gacgcggaag
       61 tgaggtgcgt gcgggctgca gcgcagaccc cggcccggcc cctccgagag cgtcctgggc
      121 gctccctcac gccttgcctt caagccttct gcctttccac cctcgtgagc ggagaactgg
      181 gagtggccat tcgacgacag tgtggtgtaa aggaattcat tagccatgga tgtattcatg
      241 aaaggacttt caaaggccaa ggagggagtt gtggctgctg ctgagaaaac caaacagggt
      301 gtggcagaag cagcaggaaa gacaaaagag ggtgttctct atgtaggctc caaaaccaag
      361 gagggagtgg tgcatggtgt ggcaacagtg gctgagaaga ccaaagagca agtgacaaat
      421 gttggaggag cagtggtgac gggtgtgaca gcagtagccc agaagacagt ggagggagca
      481 gggagcattg cagcagccac tggctttgtc aaaaaggacc agttgggcaa gaatgaagaa
      541 ggagccccac aggaaggaat tctggaagat atgcctgtgg atcctgacaa tgaggcttat
      601 gaaatgcctt ctgaggaagg gtatcaagac tacgaacctg aagcctaaga aatatctttg
      661 ctcccagttt cttgagatct gctgacagat gttccatcct gtacaagtgc tcagttccaa
      721 tgtgcccagt catgacattt ctcaaagttt ttacagtgta tctcgaagtc ttccatcagc
      781 agtgattgaa gtatctgtac ctgcccccac tcagcatttc ggtgcttccc tttcactgaa
      841 gtgaatacat ggtagcaggg tctttgtgtg ctgtggattt tgtggcttca atctacgatg
      901 ttaaaacaaa ttaaaaacac ctaagtgact accacttatt tctaaatcct cactattttt
      961 ttgttgctgt tgttcagaag ttgttagtga tttgctatca tatattataa gatttttagg
     1021 tgtcttttaa tgatactgtc taagaataat gacgtattgt gaaatttgtt aatatatata
     1081 atacttaaaa atatgtgagc atgaaactat gcacctataa atactaaata tgaaatttta
     1141 ccattttgcg atgtgtttta ttcacttgtg tttgtatata aatggtgaga attaaaataa
     1201 aacgttatct cattgcaaaa atattttatt tttatcccat ctcactttaa taataaaaat
     1261 catgcttata agcaacatga attaagaact gacacaaagg acaaaaatat aaagttatta
     1321 atagccattt gaagaaggag gaattttaga agaggtagag aaaatggaac attaacccta
     1381 cactcggaat tccctgaagc aacactgcca gaagtgtgtt ttggtatgca ctggttcctt
     1441 aagtggctgt gattaattat tgaaagtggg gtgttgaaga ccccaactac tattgtagag
     1501 tggtctattt ctcccttcaa tcctgtcaat gtttgcttta cgtattttgg ggaactgttg
     1561 tttgatgtgt atgtgtttat aattgttata catttttaat tgagcctttt attaacatat
     1621 attgttattt ttgtctcgaa ataatttttt agttaaaatc tattttgtct gatattggtg
     1681 tgaatgctgt acctttctga caataaataa tattcgacca tgaataaaaa aaaaaaaaaa
     1741 gtgggttccc gggaactaag cagtgtagaa gatgattttg actacaccct ccttagagag
     1801 ccataagaca cattagcaca tattagcaca ttcaaggctc tgagagaatg tggttaactt
     1861 tgtttaactc agcattcctc actttttttt tttaatcatc agaaattctc tctctctctc
     1921 tctctttttc tctcgctctc tttttttttt tttttttaca ggaaatgcct ttaaacatcg
     1981 ttggaactac cagagtcacc ttaaaggaga tcaattctct agactgataa aaatttcatg
     2041 gcctccttta aatgttgcca aatatatgaa ttctaggatt tttccttagg aaaggttttt
     2101 ctctttcagg gaagatctat taactcccca tgggtgctga aaataaactt gatggtgaaa
     2161 aactctgtat aaattaattt aaaaattatt tggtttctct ttttaattat tctggggcat
     2221 agtcatttct aaaagtcact agtagaaagt ataatttcaa gacagaatat tctagacatg
     2281 ctagcagttt atatgtattc atgagtaatg tgatatatat tgggcgctgg tgaggaagga
     2341 aggaggaatg agtgactata aggatggtta ccatagaaac ttcctttttt acctaattga
     2401 agagagacta ctacagagtg ctaagctgca tgtgtcatct tacactagag agaaatggta
     2461 agtttcttgt tttatttaag ttatgtttaa gcaaggaaag gatttgttat tgaacagtat
     2521 atttcaggaa ggttagaaag tggcggttag gatatatttt aaatctacct aaagcagcat
     2581 attttaaaaa tttaaaagta ttggtattaa attaagaaat agaggacaga actagactga
     2641 tagcagtgac ctagaacaat ttgagattag gaaagttgtg accatgaatt taaggattta
     2701 tgtggataca aattctcctt taaagtgttt cttcccttaa tatttatctg acggtaattt
     2761 ttgagcagtg aattacttta tatatcttaa tagtttattt gggaccaaac acttaaacaa
     2821 aaagttcttt aagtcatata agccttttca ggaagcttgt ctcatattca ctcccgagac
     2881 attcacctgc caagtggcct gaggatcaat ccagtcctag gtttattttg cagacttaca
     2941 ttctcccaag ttattcagcc tcatatgact ccacggtcgg ctttaccaaa acagttcaga
     3001 gtgcactttg gcacacaatt gggaacagaa caatctaatg tgtggtttgg tattccaagt
     3061 ggggtctttt tcagaatctc tgcactagtg tgagatgcaa acatgtttcc tcatctttct
     3121 ggcttatcca gtatgtagct atttgtgaca taataaatat atacatatat gaaaata
//
LOCUS       NM_000346               3931 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens SRY-box transcription factor 9 (SOX9), mRNA.
ACCESSION   NM_000346
VERSION     NM_000346.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3931)
  AUTHORS   Feng Q, Cui N, Li S, Cao J, Chen Q and Wang H.
  TITLE     Upregulation of SOX9 promotes the self-renewal and tumorigenicity of
            cervical cancer through activating the Wnt/beta-catenin signaling
            pathway
  JOURNAL   FASEB J 37 (10), e23174 (2023)
   PUBMED   37668416
  REMARK    GeneRIF: Upregulation of SOX9 promotes the self-renewal and
            tumorigenicity of cervical cancer through activating the
            Wnt/beta-catenin signaling pathway.
REFERENCE   2  (bases 1 to 3931)
  AUTHORS   Baddela VS, Michaelis M, Tao X, Koczan D and Vanselow J.
  TITLE     ERK1/2-SOX9/FOXL2 axis regulates ovarian steroidogenesis and favors
            the follicular-luteal transition
  JOURNAL   Life Sci Alliance 6 (10), e202302100 (2023)
   PUBMED   37532283
  REMARK    GeneRIF: ERK1/2-SOX9/FOXL2 axis regulates ovarian steroidogenesis
            and favors the follicular-luteal transition. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 3931)
  AUTHORS   Kwok C, Weller PA, Guioli S, Foster JW, Mansour S, Zuffardi O,
            Punnett HH, Dominguez-Steglich MA, Brook JD, Young ID et al.
  TITLE     Mutations in SOX9, the gene responsible for Campomelic dysplasia and
            autosomal sex reversal
  JOURNAL   Am J Hum Genet 57 (5), 1028-1036 (1995)
   PUBMED   7485151
REFERENCE   4  (bases 1 to 3931)
  AUTHORS   Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J,
            Bricarelli FD, Keutel J, Hustert E, Wolf U, Tommerup N, Schempp W
            and Scherer G.
  TITLE     Autosomal sex reversal and campomelic dysplasia are caused by
            mutations in and around the SRY-related gene SOX9
  JOURNAL   Cell 79 (6), 1111-1120 (1994)
   PUBMED   8001137
REFERENCE   5  (bases 1 to 3931)
  AUTHORS   Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA,
            Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN et
            al.
  TITLE     Campomelic dysplasia and autosomal sex reversal caused by mutations
            in an SRY-related gene
  JOURNAL   Nature 372 (6506), 525-530 (1994)
   PUBMED   7990924
REFERENCE   6  (bases 1 to 3931)
  AUTHORS   Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C,
            Goodpasture C, Guldberg P, Held KR, Reinwein H et al.
  TITLE     Assignment of an autosomal sex reversal locus (SRA1) and campomelic
            dysplasia (CMPD1) to 17q24.3-q25.1
  JOURNAL   Nat Genet 4 (2), 170-174 (1993)
   PUBMED   8348155
REFERENCE   7  (bases 1 to 3931)
  AUTHORS   Unger,S., Scherer,G. and Superti-Furga,A.
  TITLE     Campomelic Dysplasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301724
REFERENCE   8  (bases 1 to 3931)
  AUTHORS   Mohnach,L., Fechner,P.Y. and Keegan,C.E.
  TITLE     Nonsyndromic Disorders of Testicular Development Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301714
REFERENCE   9  (bases 1 to 3931)
  AUTHORS   Delot,E.C. and Vilain,E.J.
  TITLE     Nonsyndromic 46,XX Testicular Disorders/Differences of Sex
            Development
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301589
REFERENCE   10  (bases 1 to 3931)
  AUTHORS   Young ID, Zuccollo JM, Maltby EL and Broderick NJ.
  TITLE     Campomelic dysplasia associated with a de novo 2q;17q reciprocal
            translocation
  JOURNAL   J Med Genet 29 (4), 251-252 (1992)
   PUBMED   1583645
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: Z46629.1, BC056420.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000245479.3/ ENSP00000245479.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007461.8, Z46629.1,
            BC007951.2 and BC018276.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000346.3.
            Summary: The protein encoded by this gene recognizes the sequence
            CCTTGAG along with other members of the HMG-box class DNA-binding
            proteins. It acts during chondrocyte differentiation and, with
            steroidogenic factor 1, regulates transcription of the
            anti-Muellerian hormone (AMH) gene. Deficiencies lead to the
            skeletal malformation syndrome campomelic dysplasia, frequently
            with sex reversal. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3931
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.3"
     gene            1..3931
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="SRY-box transcription factor 9"
                     /db_xref="GeneID:6662"
                     /db_xref="HGNC:HGNC:11204"
                     /db_xref="MIM:608160"
     misc_feature    229..231
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="upstream in-frame stop codon"
     CDS             373..1902
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="SRY (sex-determining region Y)-box 9 protein;
                     SRY-related HMG-box, gene 9; SRY (sex determining region
                     Y)-box9; SRY-box 9"
                     /codon_start=1
                     /product="transcription factor SOX-9"
                     /protein_id="NP_000337.1"
                     /db_xref="CCDS:CCDS11689.1"
                     /db_xref="GeneID:6662"
                     /db_xref="HGNC:HGNC:11204"
                     /db_xref="MIM:608160"
                     /translation="MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTEN
                     TRPQENTFPKGEPDLKKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVNGSSKNKPH
                     VKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAERLRV
                     QHKKDHPDYKYQPRRRKSVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGMSEVH
                     SPGEHSGQSQGPPTPPTTPKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIGELSSD
                     VISNIETFDVNEFDQYLPPNGHPGVPATHGQVTYTGSYGISSTAATPASAGHVWMSKQQ
                     APPPPPQQPPQAPPAPQAPPQPQAAPPQQPAAPPQQPQAHTLTTLSSEPGQSQRTHIKT
                     EQLSPSHYSEQQQHSPQQIAYSPFNLPHYSPSYPPITRSQYDYTDHQNSSSYYSHAAGQ
                     GTGLYSTFTYMNPAQRPMYTPIADTSGVPSIPQTHSPQHWEQPVYTQLTRP"
     misc_feature    373..573
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="propagated from UniProtKB/Swiss-Prot (P48436.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    559..681
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="propagated from UniProtKB/Swiss-Prot (P48436.1);
                     Region: Dimerization (DIM).
                     /evidence=ECO:0000305|PubMed:31194875"
     misc_feature    559..681
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="propagated from UniProtKB/Swiss-Prot (P48436.1);
                     Region: PQA. /evidence=ECO:0000305|PubMed:31194875"
     misc_feature    562..564
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q04887; propagated from
                     UniProtKB/Swiss-Prot (P48436.1); phosphorylation site"
     misc_feature    850..1191
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="propagated from UniProtKB/Swiss-Prot (P48436.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1003..1005
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q04887; propagated from
                     UniProtKB/Swiss-Prot (P48436.1); phosphorylation site"
     misc_feature    1042..1293
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="propagated from UniProtKB/Swiss-Prot (P48436.1);
                     Region: Transactivation domain (TAM).
                     /evidence=ECO:0000269|PubMed:31194875"
     misc_feature    1195..1224
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="propagated from UniProtKB/Swiss-Prot (P48436.1);
                     Region: 9aaTAD 1. /evidence=ECO:0000269|PubMed:31194875"
     misc_feature    1240..1266
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="propagated from UniProtKB/Swiss-Prot (P48436.1);
                     Region: 9aaTAD 2. /evidence=ECO:0000269|PubMed:31194875"
     misc_feature    1360..1617
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="propagated from UniProtKB/Swiss-Prot (P48436.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1552..1899
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="propagated from UniProtKB/Swiss-Prot (P48436.1);
                     Region: Transactivation domain (TAC).
                     /evidence=ECO:0000269|PubMed:8640233"
     misc_feature    1750..1776
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="propagated from UniProtKB/Swiss-Prot (P48436.1);
                     Region: 9aaTAD 3. /evidence=ECO:0000269|PubMed:34342803"
     misc_feature    1807..1899
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="propagated from UniProtKB/Swiss-Prot (P48436.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3912..3917
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="hexamer: AATATA"
     polyA_site      3931
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; SRA1; SRXX2; SRXY10"
                     /note="major polyA site"
ORIGIN
        1 ggagagccga aagcggagct cgaaactgac tggaaacttc agtggcgcgg agactcgcca
       61 gtttcaaccc cggaaacttt tctttgcagg aggagaagag aaggggtgca agcgccccca
      121 cttttgctct ttttcctccc ctcctcctcc tctccaattc gcctcccccc acttggagcg
      181 ggcagctgtg aactggccac cccgcgcctt cctaagtgct cgccgcggta gccggccgac
      241 gcgccagctt ccccgggagc cgcttgctcc gcatccgggc agccgagggg agaggagccc
      301 gcgcctcgag tccccgagcc gccgcggctt ctcgcctttc ccggccacca gccccctgcc
      361 ccgggcccgc gtatgaatct cctggacccc ttcatgaaga tgaccgacga gcaggagaag
      421 ggcctgtccg gcgcccccag ccccaccatg tccgaggact ccgcgggctc gccctgcccg
      481 tcgggctccg gctcggacac cgagaacacg cggccccagg agaacacgtt ccccaagggc
      541 gagcccgatc tgaagaagga gagcgaggag gacaagttcc ccgtgtgcat ccgcgaggcg
      601 gtcagccagg tgctcaaagg ctacgactgg acgctggtgc ccatgccggt gcgcgtcaac
      661 ggctccagca agaacaagcc gcacgtcaag cggcccatga acgccttcat ggtgtgggcg
      721 caggcggcgc gcaggaagct cgcggaccag tacccgcact tgcacaacgc cgagctcagc
      781 aagacgctgg gcaagctctg gagacttctg aacgagagcg agaagcggcc cttcgtggag
      841 gaggcggagc ggctgcgcgt gcagcacaag aaggaccacc cggattacaa gtaccagccg
      901 cggcggagga agtcggtgaa gaacgggcag gcggaggcag aggaggccac ggagcagacg
      961 cacatctccc ccaacgccat cttcaaggcg ctgcaggccg actcgccaca ctcctcctcc
     1021 ggcatgagcg aggtgcactc ccccggcgag cactcggggc aatcccaggg cccaccgacc
     1081 ccacccacca cccccaaaac cgacgtgcag ccgggcaagg ctgacctgaa gcgagagggg
     1141 cgccccttgc cagagggggg cagacagccc cctatcgact tccgcgacgt ggacatcggc
     1201 gagctgagca gcgacgtcat ctccaacatc gagaccttcg atgtcaacga gtttgaccag
     1261 tacctgccgc ccaacggcca cccgggggtg ccggccacgc acggccaggt cacctacacg
     1321 ggcagctacg gcatcagcag caccgcggcc accccggcga gcgcgggcca cgtgtggatg
     1381 tccaagcagc aggcgccgcc gccacccccg cagcagcccc cacaggcccc gccggccccg
     1441 caggcgcccc cgcagccgca ggcggcgccc ccacagcagc cggcggcacc cccgcagcag
     1501 ccacaggcgc acacgctgac cacgctgagc agcgagccgg gccagtccca gcgaacgcac
     1561 atcaagacgg agcagctgag ccccagccac tacagcgagc agcagcagca ctcgccccaa
     1621 cagatcgcct acagcccctt caacctccca cactacagcc cctcctaccc gcccatcacc
     1681 cgctcacagt acgactacac cgaccaccag aactccagct cctactacag ccacgcggca
     1741 ggccagggca ccggcctcta ctccaccttc acctacatga accccgctca gcgccccatg
     1801 tacaccccca tcgccgacac ctctggggtc ccttccatcc cgcagaccca cagcccccag
     1861 cactgggaac aacccgtcta cacacagctc actcgacctt gaggaggcct cccacgaagg
     1921 gcgaagatgg ccgagatgat cctaaaaata accgaagaaa gagaggacca accagaattc
     1981 cctttggaca tttgtgtttt tttgtttttt tattttgttt tgttttttct tcttcttctt
     2041 cttccttaaa gacatttaag ctaaaggcaa ctcgtaccca aatttccaag acacaaacat
     2101 gacctatcca agcgcattac ccacttgtgg ccaatcagtg gccaggccaa ccttggctaa
     2161 atggagcagc gaaatcaacg agaaactgga ctttttaaac cctcttcaga gcaagcgtgg
     2221 aggatgatgg agaatcgtgt gatcagtgtg ctaaatctct ctgcctgttt ggactttgta
     2281 attatttttt tagcagtaat taaagaaaaa agtcctctgt gaggaatatt ctctatttta
     2341 aatattttta gtatgtactg tgtatgattc attaccattt tgaggggatt tatacatatt
     2401 tttagataaa attaaatgct cttatttttc caacagctaa actactctta gttgaacagt
     2461 gtgccctagc ttttcttgca accagagtat ttttgtacag atttgctttc tcttacaaaa
     2521 agaaaaaaaa aatcctgttg tattaacatt taaaaacaga attgtgttat gtgatcagtt
     2581 ttgggggtta actttgctta attcctcagg ctttgcgatt taaggaggag ctgccttaaa
     2641 aaaaaataaa ggccttattt tgcaattatg ggagtaaaca atagtctaga gaagcatttg
     2701 gtaagcttta tcatatatat attttttaaa gaagagaaaa acaccttgag ccttaaaacg
     2761 gtgctgctgg gaaacatttg cactctttta gtgcatttcc tcctgccttt gcttgttcac
     2821 tgcagtctta agaaagaggt aaaaggcaag caaaggagat gaaatctgtt ctgggaatgt
     2881 ttcagcagcc aataagtgcc cgagcacact gcccccggtt gcctgcctgg gccccatgtg
     2941 gaaggcagat gcctgctcgc tctgtcacct gtgcctctca gaacaccagc agttaacctt
     3001 caagacattc cacttgctaa aattatttat tttgtaagga gaggttttaa ttaaaacaaa
     3061 aaaaaattct tttttttttt tttttccaat tttaccttct ttaaaatagg ttgttggagc
     3121 tttcctcaaa gggtatggtc atctgttgtt aaattatgtt cttaactgta accagttttt
     3181 ttttatttat ctctttaatc tttttttatt attaaaagca agtttctttg tattcctcac
     3241 cctagatttg tataaatgcc tttttgtcca tccctttttt ctttgttgtt tttgttgaaa
     3301 acaaactgga aacttgtttc tttttttgta taaatgagag attgcaaatg tagtgtatca
     3361 ctgagtcatt tgcagtgttt tctgccacag acctttgggc tgccttatat tgtgtgtgtg
     3421 tgtgggtgtg tgtgtgtttt gacacaaaaa caatgcaagc atgtgtcatc catatttctc
     3481 tgcatcttct cttggagtga gggaggctac ctggagggga tcagcccact gacagacctt
     3541 aatcttaatt actgctgtgg ctagagagtt tgaggattgc tttttaaaaa agacagcaaa
     3601 cttttttttt tatttaaaaa aagatatatt aacagtttta gaagtcagta gaataaaatc
     3661 ttaaagcact cataatatgg catccttcaa tttctgtata aaagcagatc tttttaaaaa
     3721 gatacttctg taacttaaga aacctggcat ttaaatcata ttttgtcttt aggtaaaagc
     3781 tttggtttgt gttcgtgttt tgtttgtttc acttgtttcc ctcccagccc caaacctttt
     3841 gttctctccg tgaaacttac ctttcccttt ttctttctct tttttttttt tgtatattat
     3901 tgtttacaat aaatatacat tgcattaaaa a
//
LOCUS       NM_000348               4519 bp    mRNA    linear   PRI 05-JUL-2023
DEFINITION  Homo sapiens steroid 5 alpha-reductase 2 (SRD5A2), mRNA.
ACCESSION   NM_000348
VERSION     NM_000348.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4519)
  AUTHORS   Seo J, Shin S, Kim SW, Kim SJ, Lee M, Song K, Suh J, Lee ST, Lee YS,
            Chae HW, Kim HS, Choi JR, Han S and Kwon A.
  TITLE     The Genotype-Phenotype Correlation in Human 5alpha-Reductase Type 2
            Deficiency: Classified and Analyzed from a SRD5A2 Structural
            Perspective
  JOURNAL   Int J Mol Sci 24 (4), 3297 (2023)
   PUBMED   36834714
  REMARK    GeneRIF: The Genotype-Phenotype Correlation in Human
            5alpha-Reductase Type 2 Deficiency: Classified and Analyzed from a
            SRD5A2 Structural Perspective. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4519)
  AUTHORS   Markouli M and Michala L.
  TITLE     Fertility potential in 5alpha-reductase type 2 deficient males
  JOURNAL   J Pediatr Urol 19 (1), 108-114 (2023)
   PUBMED   36153242
  REMARK    GeneRIF: Fertility potential in 5alpha-reductase type 2 deficient
            males. Review article
REFERENCE   3  (bases 1 to 4519)
  AUTHORS   Liu Z, Lin Z, Cao F, Jiang M, Jin S, Cui Y and Niu YN.
  TITLE     Upregulation of mir-1199-5p is associated with reduced type 2
            5-alpha reductase expression in benign prostatic hyperplasia
  JOURNAL   BMC Urol 22 (1), 172 (2022)
   PUBMED   36344974
  REMARK    GeneRIF: Upregulation of mir-1199-5p is associated with reduced type
            2 5-alpha reductase expression in benign prostatic hyperplasia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4519)
  AUTHORS   Liu Q, Yin X and Li P.
  TITLE     Clinical, Hormonal, and Genetic Characteristics of 5alpha-Reductase
            Type 2 Deficiency in 103 Chinese Patients
  JOURNAL   Endocr Pract 28 (9), 859-866 (2022)
   PUBMED   35700942
  REMARK    GeneRIF: Clinical, Hormonal, and Genetic Characteristics of
            5alpha-Reductase Type 2 Deficiency in 103 Chinese Patients.
REFERENCE   5  (bases 1 to 4519)
  AUTHORS   Li L, Zhang J, Li Q, Qiao L, Li P, Cui Y, Li S, Hao S, Wu T, Liu L,
            Yin J, Hu P, Dou X, Li S and Yang H.
  TITLE     Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R
            in SRD5A2 causing 46,XY disorder of sex development
  JOURNAL   Ital J Pediatr 48 (1), 47 (2022)
   PUBMED   35331321
  REMARK    GeneRIF: Mutational analysis of compound heterozygous mutation
            p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4519)
  AUTHORS   Boudon C, Lobaccaro JM, Lumbroso S, Ogur G, Ocal G, Belon C and
            Sultan C.
  TITLE     A new deletion of the 5 alpha-reductase type 2 gene in a Turkish
            family with 5 alpha-reductase deficiency
  JOURNAL   Clin Endocrinol (Oxf) 43 (2), 183-188 (1995)
   PUBMED   7554313
REFERENCE   7  (bases 1 to 4519)
  AUTHORS   Thigpen AE, Davis DL, Gautier T, Imperato-McGinley J and Russell DW.
  TITLE     Brief report: the molecular basis of steroid 5 alpha-reductase
            deficiency in a large Dominican kindred
  JOURNAL   N Engl J Med 327 (17), 1216-1219 (1992)
   PUBMED   1406794
REFERENCE   8  (bases 1 to 4519)
  AUTHORS   Thigpen AE, Davis DL, Milatovich A, Mendonca BB, Imperato-McGinley
            J, Griffin JE, Francke U, Wilson JD and Russell DW.
  TITLE     Molecular genetics of steroid 5 alpha-reductase 2 deficiency
  JOURNAL   J Clin Invest 90 (3), 799-809 (1992)
   PUBMED   1522235
REFERENCE   9  (bases 1 to 4519)
  AUTHORS   Labrie F, Sugimoto Y, Luu-The V, Simard J, Lachance Y, Bachvarov D,
            Leblanc G, Durocher F and Paquet N.
  TITLE     Structure of human type II 5 alpha-reductase gene
  JOURNAL   Endocrinology 131 (3), 1571-1573 (1992)
   PUBMED   1505484
REFERENCE   10  (bases 1 to 4519)
  AUTHORS   Andersson S, Berman DM, Jenkins EP and Russell DW.
  TITLE     Deletion of steroid 5 alpha-reductase 2 gene in male
            pseudohermaphroditism
  JOURNAL   Nature 354 (6349), 159-161 (1991)
   PUBMED   1944596
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.255676.1, M74047.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144335,
            SAMEA2145122 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000622030.2/ ENSP00000477587.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC112252.1 and AL133247.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000348.3.
            Summary: This gene encodes a microsomal protein expressed at high
            levels in androgen-sensitive tissues such as the prostate. The
            encoded protein is active at acidic pH and is sensitive to the
            4-azasteroid inhibitor finasteride. Deficiencies in this gene can
            result in male pseudohermaphroditism, specifically pseudovaginal
            perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4519
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.1"
     gene            1..4519
                     /gene="SRD5A2"
                     /note="steroid 5 alpha-reductase 2"
                     /db_xref="GeneID:6716"
                     /db_xref="HGNC:HGNC:11285"
                     /db_xref="MIM:607306"
     CDS             39..803
                     /gene="SRD5A2"
                     /EC_number="1.3.1.22"
                     /note="S5AR 2; SR type 2; 5 alpha-SR2; type II 5-alpha
                     reductase; steroid-5-alpha-reductase, alpha polypeptide 2
                     (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)"
                     /codon_start=1
                     /product="3-oxo-5-alpha-steroid 4-dehydrogenase 2"
                     /protein_id="NP_000339.2"
                     /db_xref="CCDS:CCDS74503.1"
                     /db_xref="GeneID:6716"
                     /db_xref="HGNC:HGNC:11285"
                     /db_xref="MIM:607306"
                     /translation="MQVQCQQSPVLAGSATLVALGALALYVAKPSGYGKHTESLKPAAT
                     RLPARAAWFLQELPSFAVPAGILARQPLSLFGPPGTVLLGLFCLHYFHRTFVYSLLNRG
                     RPYPAILILRGTAFCTGNGVLQGYYLIYCAEYPDGWYTDIRFSLGVFLFILGMGINIHS
                     DYILRQLRKPGEISYRIPQGGLFTYVSGANFLGEIIEWIGYALATWSLPALAFAFFSLC
                     FLGLRAFHHHRFYLKMFEDYPKSRKALIPFIF"
     misc_feature    60..122
                     /gene="SRD5A2"
                     /note="propagated from UniProtKB/Swiss-Prot (P31213.2);
                     transmembrane region"
     misc_feature    252..314
                     /gene="SRD5A2"
                     /note="propagated from UniProtKB/Swiss-Prot (P31213.2);
                     transmembrane region"
     misc_feature    474..536
                     /gene="SRD5A2"
                     /note="propagated from UniProtKB/Swiss-Prot (P31213.2);
                     transmembrane region"
     misc_feature    654..716
                     /gene="SRD5A2"
                     /note="propagated from UniProtKB/Swiss-Prot (P31213.2);
                     transmembrane region"
     regulatory      2393..2398
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRD5A2"
                     /note="hexamer: ATTAAA"
     polyA_site      2415
                     /gene="SRD5A2"
                     /note="major polyA site"
     regulatory      4485..4490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRD5A2"
                     /note="hexamer: AATAAA"
     polyA_site      4519
                     /gene="SRD5A2"
ORIGIN
        1 ctgggagggc agcggccacc ggcgaggaac acggcgcgat gcaggttcag tgccagcaga
       61 gcccagtgct ggcaggcagc gccactttgg tcgcccttgg ggcactggcc ttgtacgtcg
      121 cgaagccctc cggctacggg aagcacacgg agagcctgaa gccggcggct acccgcctgc
      181 cagcccgcgc cgcctggttc ctgcaggagc tgccttcctt cgcggtgccc gcggggatcc
      241 tcgcccggca gcccctctcc ctcttcgggc cacctgggac ggtacttctg ggcctcttct
      301 gcctacatta cttccacagg acatttgtgt actcactgct caatcgaggg aggccttatc
      361 cagctatact cattctcaga ggcactgcct tctgcactgg aaatggagtc cttcaaggct
      421 actatctgat ttactgtgct gaataccctg atgggtggta cacagacata cggtttagct
      481 tgggtgtctt cttatttatt ttgggaatgg gaataaacat tcatagtgac tatatattgc
      541 gccagctcag gaagcctgga gaaatcagct acaggattcc acaaggtggc ttgtttacgt
      601 atgtttctgg agccaatttc ctcggtgaga tcattgaatg gatcggctat gccctggcca
      661 cttggtccct cccagcactt gcatttgcat ttttctcact ttgtttcctt gggctgcgag
      721 cttttcacca ccataggttc tacctcaaga tgtttgagga ctaccccaaa tctcggaaag
      781 cccttattcc attcatcttt taaaggaacc aaattaaaaa ggagcagagc tcccacaatg
      841 ctgatgaaaa ctgtcaagct gctgaaactg taattttcat gatataatag tcccgtatat
      901 atgtaatagt aggtctcctg gcgttctgcc agctggcctg gggattctga gtggtgtctg
      961 cttagagttt actcctaccc ttccagggac ccctatcctg atccccaact gaagcttcaa
     1021 aaagccactt ttccaaatgg cgacagttgc ttcttagcta ttgctctgag aaagtacaaa
     1081 cttctcctat gtctttcacc gggcaatcca agtacatgtg gcttcatacc cactccctgt
     1141 caatgcagga caactctgta atcaagaatt ttttgacttg aaggcagtac ttatagacct
     1201 tattaaaggt atgcatttta tacatgtaac agagtagcag aaatttaaac tctgaagcca
     1261 caaagaccca gagcaaaccc actcccaaat gaaaacccca gtcatggctt cctttttctt
     1321 ggttaattag gaaagatgag aaattattag gtagaccttg aatacaggag ccctctcctc
     1381 atagtgctga aaagatactg atgcattgac ctcatttcaa atttgtgcag tgtcttagtt
     1441 gatgagtgcc tctgttttcc agaagatttc acaatccccg gaaaactggt atggctattc
     1501 ttgaaggcca ggttttaata accacaaaca aaaaggcatg aacctgggtg gcttatgaga
     1561 gagtagagaa caacatgacc ctggatggct actaagagga tagagaacag ttttacaata
     1621 gacattgcaa actctcatgt ttttggaaac tagtggcaat atccaaataa tgagtagtgt
     1681 aaaacaaaga gaattaatga tgaggttaca tgctgcttgc ctccaccaga tgtccacaac
     1741 aatatgaagt acagcagaag ccccaagcaa ctttcctttc ctggagcttc ttccttgtag
     1801 ttctcaggac ctgttcaaga aggtgtctcc taggggcagc ctgaatgcct ccctcaaagg
     1861 acctgcaggc agagactgaa aattgcagac agaggggcac gtctgggcag aaaacctgtt
     1921 ttgtttggct cagacatata gttttttttt tttttacaaa gtttcaaaaa cttaaaaatc
     1981 aggagattcc ttcataaaac tctagcattc tagtttcatt taaaaagttg gaggatctga
     2041 acatacagag cccacatttc cacaccagaa ctggaactac gtagctagta agcatttgag
     2101 tttgcaaact cttgtgaagg ggtcacccca gcatgagtgc tgagatatgg actctctaag
     2161 gaaggggccg aacgcttgta attggaatac atggaaatat ttgtcttctc aggcctatgt
     2221 ttgcggaatg cattgtcaat atttagcaaa ctgttttgac aaatgagcac cagtggtact
     2281 aagcacagaa actcactata taagtcacat aggaaacttg aaaggtctga ggatgatgta
     2341 gattactgaa aaatgcaaat tgcaatcata taaataagtg tttttgttgt tcattaaata
     2401 cctttaaatc atggatgtta agcagttttg tttgaattaa aatatcctgg gacttctgga
     2461 gattttcaca aggtattggg gtgtgcttcc ctgtcccgcc tgtccctcat tcccattcac
     2521 cctgtctgta gtgtcgtttc ctttcttctc ttctctcttc atgaaattag gggctgtgtg
     2581 ctggaaataa agaagtatga cttatacagc ctctcagcca caattcagaa ctacaaggaa
     2641 gtacaataaa ggtgcaggaa aacgtcatga ggttagatgc cactcctggt gctgaggaat
     2701 acacaggggg aatgaacaca cttggtgaag taaatcttca ggtgtagctt gagctctgtg
     2761 acataaaaga cttccagttc tctccatgac attgaaaact accttgctta agtcctttat
     2821 tttactacca tgtaaaacat ccaggccggt ccttgagatg aaataaatat acaataaatg
     2881 gcagtactca gtctcaggac aaaaccgcca tttggcaatt tcactttttg ccacaagagg
     2941 gcgctttcta aaatagtatt tagtccaacc ttgacttaat taggtccaac cccagtcctg
     3001 ttgcctgatc gtggaccttt caagttagca tgatcgtgga acttcttaat ctgaatatag
     3061 ggtagagtag cgtgaactct atgaaagctg aaaccttccc ttgataattc aggtattctc
     3121 agtgttctag ggctgttgtg ttcaatgaca gtttgtcatt gtttagggct aggatatgta
     3181 tgtggattaa atacagtaaa ggtctgaaca tgtgctcatc tctaaacata tttcttccca
     3241 cttttaaaaa tagggtgcaa caaaattata gttaattgag gtttccatgg actgtttttt
     3301 ggctaaaata atctaacagt gtcctagctc acaagatact ctatcttggt cttgctgaag
     3361 ctttcacgga agaggcgttt tcctgccaac cttgaagaaa atgttgagtt ttgtttgttt
     3421 ttcagaattt agacttaaag agctgaagca gacctcagac atcagctatt cctaccactt
     3481 cacattatag gtagtgacac tgagacccac agagttaaaa ggcctcctca cagctggtac
     3541 agagctggtc agagcagcca tctcattttg tccctttgag ggtcagatgt atgcttcttc
     3601 tgcttaaggc acagccttta gggctgccat ctggatttct acagagctca tgcaggagaa
     3661 aaatagccag agcttaagtg ctgttgcata gttcagttta tacacctatt gtcccatgcc
     3721 tgtttgtgtg tgaggcttcc ctcgctccgt gggagcacca ggctcatgcc ctttcataaa
     3781 cctatttgac agaatagaga gttttccctc attggtgtag tcaagacaac atgtgtgttc
     3841 agcatggaaa aaaggtttca ggtcataaac ccccttatcc ctaatgctta ctttcataaa
     3901 gaacaacagt ggctccactg tattctaaaa ggaaaaagga gctctaatga gaaatacgca
     3961 attaaacagc tatttaggcg gcttagaccc tttcaggaac aaataaataa atccgtggtt
     4021 ttacaaccct gaagtttgat aatagctctc ttggattttt gtggttacct catggcaatc
     4081 tcactaagaa gcaggggagc aagctcttgg cacatgaagg aataggctca tgaagattca
     4141 tttcttttcc cgcttggcct tttggttctc taataagctg tgagctgagg tccatgcagg
     4201 gaaaacaagg agggtaacgg caaatgtaaa gtgaattttt ctggagaagg atgctgatta
     4261 ttttatagca tctacactat cctatgatga aagaggcata gagccgggtg gcaatgtgag
     4321 ttcttgggtg atttaataag ccatcgagtg gatttaattt ctaagtaaga catttgttta
     4381 ttctttgtac aagtccatgg agttgtgatc ttaaagagtt ctgtgttatt tgcattgtgc
     4441 ctcatttctc cccatcaacc ttagcttgag atttggatga ataaaataaa taactggaga
     4501 aggttaaagt atgcaccaa
//
LOCUS       NM_000349               2565 bp    mRNA    linear   PRI 11-JUN-2023
DEFINITION  Homo sapiens steroidogenic acute regulatory protein (STAR), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_000349
VERSION     NM_000349.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2565)
  AUTHORS   Manna PR, Bose C and Reddy PH.
  TITLE     Downregulation of StAR driven neurosteroid biosynthesis as a
            distinctive feature in the brains of Alzheimer's disease patients
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1869 (6), 166757 (2023)
   PUBMED   37209874
  REMARK    GeneRIF: Downregulation of StAR driven neurosteroid biosynthesis as
            a distinctive feature in the brains of Alzheimer's disease patients.
REFERENCE   2  (bases 1 to 2565)
  AUTHORS   Aghaei S, Farrokhi E, Saffari-Chaleshtori J, Hoseinzadeh M, Molavi
            N, Hashemipour M, Rostampour N, Asgharzadeh S and Tabatabaiefar MA.
  TITLE     New molecular insights into the A218V variant impact on the
            steroidogenic acute regulatory protein (STAR) associated with 46, XY
            disorders of sexual development
  JOURNAL   Mol Genet Genomics 298 (3), 693-708 (2023)
   PUBMED   37004560
  REMARK    GeneRIF: New molecular insights into the A218V variant impact on the
            steroidogenic acute regulatory protein (STAR) associated with 46, XY
            disorders of sexual development.
REFERENCE   3  (bases 1 to 2565)
  AUTHORS   Manna PR, Ramachandran S, Pradeepkiran JA, Molehin D, Castro-Piedras
            I, Pruitt K, Ganapathy V and Reddy PH.
  TITLE     Expression and Function of StAR in Cancerous and Non-Cancerous Human
            and Mouse Breast Tissues: New Insights into Diagnosis and Treatment
            of Hormone-Sensitive Breast Cancer
  JOURNAL   Int J Mol Sci 24 (1), 758 (2023)
   PUBMED   36614200
  REMARK    GeneRIF: Expression and Function of StAR in Cancerous and
            Non-Cancerous Human and Mouse Breast Tissues: New Insights into
            Diagnosis and Treatment of Hormone-Sensitive Breast Cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2565)
  AUTHORS   Jia Q, Liu B, Dang X, Guo Y, Han X, Song T, Cheng JC and Fang L.
  TITLE     Growth differentiation factor-11 downregulates steroidogenic acute
            regulatory protein expression through ALK5-mediated SMAD3 signaling
            pathway in human granulosa-lutein cells
  JOURNAL   Reprod Biol Endocrinol 20 (1), 34 (2022)
   PUBMED   35183204
  REMARK    GeneRIF: Growth differentiation factor-11 downregulates
            steroidogenic acute regulatory protein expression through
            ALK5-mediated SMAD3 signaling pathway in human granulosa-lutein
            cells. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2565)
  AUTHORS   Kothandapani A, Larsen MC, Lee J, Jorgensen JS and Jefcoate CR.
  TITLE     Distinctive functioning of STARD1 in the fetal Leydig cells compared
            to adult Leydig and adrenal cells. Impact of Hedgehog signaling via
            the primary cilium
  JOURNAL   Mol Cell Endocrinol 531, 111265 (2021)
   PUBMED   33864885
  REMARK    GeneRIF: Distinctive functioning of STARD1 in the fetal Leydig cells
            compared to adult Leydig and adrenal cells. Impact of Hedgehog
            signaling via the primary cilium.
REFERENCE   6  (bases 1 to 2565)
  AUTHORS   Arakane F, Sugawara T, Nishino H, Liu Z, Holt JA, Pain D, Stocco DM,
            Miller WL and Strauss JF 3rd.
  TITLE     Steroidogenic acute regulatory protein (StAR) retains activity in
            the absence of its mitochondrial import sequence: implications for
            the mechanism of StAR action
  JOURNAL   Proc Natl Acad Sci U S A 93 (24), 13731-13736 (1996)
   PUBMED   8943003
REFERENCE   7  (bases 1 to 2565)
  AUTHORS   Tee MK, Lin D, Sugawara T, Holt JA, Guiguen Y, Buckingham B, Strauss
            JF 3rd and Miller WL.
  TITLE     T-->A transversion 11 bp from a splice acceptor site in the human
            gene for steroidogenic acute regulatory protein causes congenital
            lipoid adrenal hyperplasia
  JOURNAL   Hum Mol Genet 4 (12), 2299-2305 (1995)
   PUBMED   8634702
REFERENCE   8  (bases 1 to 2565)
  AUTHORS   Gradi A, Tang-Wai R, McBride HM, Chu LL, Shore GC and Pelletier J.
  TITLE     The human steroidogenic acute regulatory (StAR) gene is expressed in
            the urogenital system and encodes a mitochondrial polypeptide
  JOURNAL   Biochim Biophys Acta 1258 (3), 228-233 (1995)
   PUBMED   7548191
REFERENCE   9  (bases 1 to 2565)
  AUTHORS   Sugawara T, Lin D, Holt JA, Martin KO, Javitt NB, Miller WL and
            Strauss JF 3rd.
  TITLE     Structure of the human steroidogenic acute regulatory protein (StAR)
            gene: StAR stimulates mitochondrial cholesterol 27-hydroxylase
            activity
  JOURNAL   Biochemistry 34 (39), 12506-12512 (1995)
   PUBMED   7547998
REFERENCE   10  (bases 1 to 2565)
  AUTHORS   Sugawara T, Holt JA, Driscoll D, Strauss JF 3rd, Lin D, Miller WL,
            Patterson D, Clancy KP, Hart IM, Clark BJ et al.
  TITLE     Human steroidogenic acute regulatory protein: functional activity in
            COS-1 cells, tissue-specific expression, and mapping of the
            structural gene to 8p11.2 and a pseudogene to chromosome 13
  JOURNAL   Proc Natl Acad Sci U S A 92 (11), 4778-4782 (1995)
   PUBMED   7761400
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HM005654.1, SRR5189667.196142.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000276449.9/ ENSP00000276449.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL526126.3, U17280.1,
            BC010550.1, AV706872.1, AV707696.1, AC084024.17 and AV706111.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000349.2.
            Summary: The protein encoded by this gene plays a key role in the
            acute regulation of steroid hormone synthesis by enhancing the
            conversion of cholesterol into pregnenolone. This protein permits
            the cleavage of cholesterol into pregnenolone by mediating the
            transport of cholesterol from the outer mitochondrial membrane to
            the inner mitochondrial membrane. Mutations in this gene are a
            cause of congenital lipoid adrenal hyperplasia (CLAH), also called
            lipoid CAH. A pseudogene of this gene is located on chromosome 13.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2565
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.23"
     gene            1..2565
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /note="steroidogenic acute regulatory protein"
                     /db_xref="GeneID:6770"
                     /db_xref="HGNC:HGNC:11359"
                     /db_xref="MIM:600617"
     misc_feature    60..62
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /note="upstream in-frame stop codon"
     CDS             135..992
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /note="START domain containing 1; steroidogenic acute
                     regulator; StAR related lipid transfer (START) domain
                     containing 1; mitochondrial steroid acute regulatory
                     protein; cholesterol trafficker; START domain-containing
                     protein 1; testis secretory sperm-binding protein Li 241mP"
                     /codon_start=1
                     /product="steroidogenic acute regulatory protein,
                     mitochondrial"
                     /protein_id="NP_000340.2"
                     /db_xref="CCDS:CCDS6102.1"
                     /db_xref="GeneID:6770"
                     /db_xref="HGNC:HGNC:11359"
                     /db_xref="MIM:600617"
                     /translation="MLLATFKLCAGSSYRHMRNMKGLRQQAVMAISQELNRRALGGPTP
                     STWINQVRRRSSLLGSRLEETLYSDQELAYLQQGEEAMQKALGILSNQEGWKKESQQDN
                     GDKVMSKVVPDVGKVFRLEVVVDQPMERLYEELVERMEAMGEWNPNVKEIKVLQKIGKD
                     TFITHELAAEAAGNLVGPRDFVSVRCAKRRGSTCVLAGMATDFGNMPEQKGVIRAEHGP
                     TCMVLHPLAGSPSKTKLTWLLSIDLKGWLPKSIINQVLSQTQVDFANHLRKRLESHPAS
                     EARC"
     misc_feature    303..305
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:10548884; propagated from
                     UniProtKB/Swiss-Prot (P49675.2); phosphorylation site"
     misc_feature    717..719
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:10548884; propagated from
                     UniProtKB/Swiss-Prot (P49675.2); phosphorylation site"
     regulatory      1592..1597
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /note="hexamer: AATAAA"
     polyA_site      1616
                     /gene="STAR"
                     /gene_synonym="STARD1"
                     /note="major polyA site"
ORIGIN
        1 gcagctgcgg gactcagagg cgaagcttga ggggctcagg aaggacgaag aaccaccctt
       61 gagagaagag gcagcagcag cggcggcagc agcagcggca gcgaccccac cactgccaca
      121 tttgccagga aacaatgctg ctagcgacat tcaagctgtg cgctgggagc tcctacagac
      181 acatgcgcaa catgaagggg ctgaggcaac aggctgtgat ggccatcagc caggagctga
      241 accggagggc cctggggggc cccaccccta gcacgtggat taaccaggtt cggcggcgga
      301 gctctctact cggttctcgg ctggaagaga ctctctacag tgaccaggag ctggcctatc
      361 tccagcaggg ggaggaggcc atgcagaagg ccttgggcat ccttagcaac caagagggct
      421 ggaagaagga gagtcagcag gacaatgggg acaaagtgat gagtaaagtg gtcccagatg
      481 tgggcaaggt gttccggctg gaggtcgtgg tggaccagcc catggagagg ctctatgaag
      541 agctcgtgga gcgcatggaa gcaatggggg agtggaaccc caatgtcaag gagatcaagg
      601 tcctgcagaa gatcggaaaa gatacattca ttactcacga gctggctgcc gaggcagcag
      661 gaaacctggt ggggccccgt gactttgtga gcgtgcgctg tgccaagcgc cgaggctcca
      721 cctgtgtgct ggctggcatg gccacagact tcgggaacat gcctgagcag aagggtgtca
      781 tcagggcgga gcacggtccc acttgcatgg tgcttcaccc gttggctgga agtccctcta
      841 agaccaaact tacgtggcta ctcagcatcg acctcaaggg gtggctgccc aagagcatca
      901 tcaaccaggt cctgtcccag acccaggtgg attttgccaa ccacctgcgc aagcgcctgg
      961 agtcccaccc tgcctctgaa gccaggtgtt gaagaccagc ctgctgttcc caactgtgcc
     1021 cagctgcact ggtacacacg ctcatcagga gaatccctac tggaagcctg caagtctaag
     1081 atctccatct ggtgacagtg ggatgggtgg ggttcgtgtt tagagtatga cactaggatt
     1141 cagattggtg aaagttttta gtaccaagaa aacagggatg aggctcttgg attaaaaggt
     1201 aacttcattc actgattagc tatgacatga gggttcaggc ccctaaaata attgtaaaac
     1261 tttttttctg ggcccttatg tacccaccta aaaccatctt taaaatgcta gtggctgata
     1321 tgggtgtggg ggatgctaac cacagggcct gagaagtctt gctttatggg ctcaagaatg
     1381 ccatgcgctg gcagtacatg tgcacaaagc agaatctcag agggtctcct gcagccctct
     1441 gctcctcccg gccgctgcac agcaacacca cagaacaagc agcaccccac agtgggtgcc
     1501 ttccagaaat atagtccaag ctttctctgt ggaaaaagac aaaactcatt agtagacatg
     1561 tttccctatt gctttcatag gcaccagtca gaataaagaa tcataattca cacaaacatc
     1621 agtctttgtt ttaatattgt actgttaaaa aaatctatgc agctgggtgc agtggctcac
     1681 gcctgtaatc ccagcatttt gggaggctga ggtaggcgga tcacaaggtc aggagatcga
     1741 gaccatcctg gccaacatgg tgaaaccccg tctctactaa aatacaaaaa attagctggg
     1801 tgtggtggcg caaacctgta gtcgtagcta cttgggaggc tgaggcaggg gaatcacttg
     1861 aaccccggag gcggaggttg tagtgggccg agattgtgcc actgcgctcc agcgtgggcg
     1921 acagagtgag actccatctc aaaaaaaaaa aaaaaaaaat ctatgctagt agattacaac
     1981 ttcacactag aggagttctg gacaaagctt ttaattagtc aaactaaatt aaggctcatt
     2041 aaaaggaaag gaactactgg gaaattatgc aattcaataa tttagactct gttaccagga
     2101 tctttcataa aaatttaatt tccataatca taacctaaat gagttcttaa agaattctat
     2161 aagcaatagc tgattaatgg gccctggaag atgaagatta taactgttta tttacctaat
     2221 taaaaggaaa ggcagtgcca aatatgagag gataaacaat attagttaac atttctgtta
     2281 tttatgatgc caattagtag taagataatt ccacagctgt caactttgtt tggggctggc
     2341 aacttctctg cttaaacagg ctaaaagttt agtattctgg gagaagtggc tggaagaagg
     2401 ggtaatatgg tgaaagcaaa ttccctttcc caggagtcaa gagaatttat gtgaggtggc
     2461 tcccgcctgt aatctcagca ctttgggagg ccaaggcagg caatcacctg agggcaggag
     2521 accagcctga ctaacatgga gaaaccccat ctctactaaa aatac
//
LOCUS       NM_000350               7328 bp    mRNA    linear   PRI 28-SEP-2023
DEFINITION  Homo sapiens ATP binding cassette subfamily A member 4 (ABCA4),
            mRNA.
ACCESSION   NM_000350
VERSION     NM_000350.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7328)
  AUTHORS   Farnoodian M, Bose D, Barone F, Nelson LM, Boyle M, Jun B, Do K,
            Gordon W, Guerin MK, Perera R, Ji JX, Cogliati T, Sharma R, Brooks
            BP, Bazan NG and Bharti K.
  TITLE     Retina and RPE lipid profile changes linked with ABCA4 associated
            Stargardt's maculopathy
  JOURNAL   Pharmacol Ther 249, 108482 (2023)
   PUBMED   37385300
  REMARK    GeneRIF: Retina and RPE lipid profile changes linked with ABCA4
            associated Stargardt's maculopathy. Review article
REFERENCE   2  (bases 1 to 7328)
  AUTHORS   Kaltak M, Blanco-Garavito R, Molday LL, Dhaenens CM, Souied EE,
            Platenburg G, Swildens J, Molday RS and Cremers FPM.
  TITLE     Stargardt disease-associated in-frame ABCA4 exon 17 skipping results
            in significant ABCA4 function
  JOURNAL   J Transl Med 21 (1), 546 (2023)
   PUBMED   37587475
  REMARK    GeneRIF: Stargardt disease-associated in-frame ABCA4 exon 17
            skipping results in significant ABCA4 function. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 7328)
  AUTHORS   Whelan L, Dockery A, Stephenson KAJ, Zhu J, Kopcic E, Post IJM, Khan
            M, Corradi Z, Wynne N, O' Byrne JJ, Duignan E, Silvestri G, Roosing
            S, Cremers FPM, Keegan DJ, Kenna PF and Farrar GJ.
  TITLE     Detailed analysis of an enriched deep intronic ABCA4 variant in
            Irish Stargardt disease patients
  JOURNAL   Sci Rep 13 (1), 9380 (2023)
   PUBMED   37296172
  REMARK    GeneRIF: Detailed analysis of an enriched deep intronic ABCA4
            variant in Irish Stargardt disease patients. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 7328)
  AUTHORS   Pfau M, Zein WM, Huryn LA, Cukras CA, Jeffrey BG, Hufnagel RB and
            Brooks BP.
  TITLE     Genotype-Phenotype Association in ABCA4-Associated Retinopathy
  JOURNAL   Adv Exp Med Biol 1415, 289-295 (2023)
   PUBMED   37440047
  REMARK    GeneRIF: Genotype-Phenotype Association in ABCA4-Associated
            Retinopathy.
REFERENCE   5  (bases 1 to 7328)
  AUTHORS   Allikmets R, Wasserman WW, Hutchinson A, Smallwood P, Nathans J,
            Rogan PK, Schneider TD and Dean M.
  TITLE     Organization of the ABCR gene: analysis of promoter and splice
            junction sequences
  JOURNAL   Gene 215 (1), 111-122 (1998)
   PUBMED   9666097
REFERENCE   6  (bases 1 to 7328)
  AUTHORS   Azarian SM, Megarity CF, Weng J, Horvath DH and Travis GH.
  TITLE     The human photoreceptor rim protein gene (ABCR): genomic structure
            and primer set information for mutation analysis
  JOURNAL   Hum Genet 102 (6), 699-705 (1998)
   PUBMED   9703434
REFERENCE   7  (bases 1 to 7328)
  AUTHORS   Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram
            A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood
            P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M and
            Lupski JR.
  TITLE     A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is
            mutated in recessive Stargardt macular dystrophy
  JOURNAL   Nat Genet 15 (3), 236-246 (1997)
   PUBMED   9054934
  REMARK    Erratum:[Nat Genet. 1997 Sep;17(1):122. PMID: 9288113]
REFERENCE   8  (bases 1 to 7328)
  AUTHORS   Martinez-Mir A, Bayes M, Vilageliu L, Grinberg D, Ayuso C, del Rio
            T, Garcia-Sandoval B, Bussaglia E, Baiget M, Gonzalez-Duarte R and
            Balcells S.
  TITLE     A new locus for autosomal recessive retinitis pigmentosa (RP19) maps
            to 1p13-1p21
  JOURNAL   Genomics 40 (1), 142-146 (1997)
   PUBMED   9070931
REFERENCE   9  (bases 1 to 7328)
  AUTHORS   Allikmets R, Gerrard B, Hutchinson A and Dean M.
  TITLE     Characterization of the human ABC superfamily: isolation and mapping
            of 21 new genes using the expressed sequence tags database
  JOURNAL   Hum Mol Genet 5 (10), 1649-1655 (1996)
   PUBMED   8894702
REFERENCE   10  (bases 1 to 7328)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB210040.1, AF000148.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370225.4/ ENSP00000359245.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093579.2 and AC105278.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000350.2.
            Summary: The membrane-associated protein encoded by this gene is a
            member of the superfamily of ATP-binding cassette (ABC)
            transporters. ABC proteins transport various molecules across
            extra- and intracellular membranes. ABC genes are divided into
            seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20,
            White). This protein is a member of the ABC1 subfamily. Members of
            the ABC1 subfamily comprise the only major ABC subfamily found
            exclusively in multicellular eukaryotes. This protein is a
            retina-specific ABC transporter with N-retinylidene-PE as a
            substrate. It is expressed exclusively in retina photoreceptor
            cells, and the gene product mediates transport of an essental
            molecule, all-trans-retinal aldehyde (atRAL), across the
            photoreceptor cell membrane. Mutations in this gene are found in
            patients diagnosed with Stargardt disease, a form of juvenile-onset
            macular degeneration. Mutations in this gene are also associated
            with retinitis pigmentosa-19, cone-rod dystrophy type 3,
            early-onset severe retinal dystrophy, fundus flavimaculatus, and
            macular degeneration age-related 2. [provided by RefSeq, Sep 2019].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7328
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.1"
     gene            1..7328
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="ATP binding cassette subfamily A member 4"
                     /db_xref="GeneID:24"
                     /db_xref="HGNC:HGNC:34"
                     /db_xref="MIM:601691"
     misc_feature    3
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="alternative transcription initiation site"
     misc_feature    13
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="alternative transcription initiation site"
     misc_feature    17
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="alternative transcription initiation site"
     CDS             104..6925
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /EC_number="7.6.2.1"
                     /note="ATP binding cassette transporter; ATP-binding
                     transporter, retina-specific; ATP-binding cassette
                     transporter, retinal-specific; retinal-specific ATP-binding
                     cassette transporter; photoreceptor rim protein;
                     retina-specific ABC transporter; RIM protein; RIM ABC
                     transporter; stargardt disease protein; ATP-binding
                     cassette sub-family A member 4; ATP-binding cassette,
                     sub-family A (ABC1), member 4; RIM proteinv"
                     /codon_start=1
                     /product="retinal-specific phospholipid-transporting ATPase
                     ABCA4"
                     /protein_id="NP_000341.2"
                     /db_xref="CCDS:CCDS747.1"
                     /db_xref="GeneID:24"
                     /db_xref="HGNC:HGNC:34"
                     /db_xref="MIM:601691"
                     /translation="MGFVRQIQLLLWKNWTLRKRQKIRFVVELVWPLSLFLVLIWLRNA
                     NPLYSHHECHFPNKAMPSAGMLPWLQGIFCNVNNPCFQSPTPGESPGIVSNYNNSILAR
                     VYRDFQELLMNAPESQHLGRIWTELHILSQFMDTLRTHPERIAGRGIRIRDILKDEETL
                     TLFLIKNIGLSDSVVYLLINSQVRPEQFAHGVPDLALKDIACSEALLERFIIFSQRRGA
                     KTVRYALCSLSQGTLQWIEDTLYANVDFFKLFRVLPTLLDSRSQGINLRSWGGILSDMS
                     PRIQEFIHRPSMQDLLWVTRPLMQNGGPETFTKLMGILSDLLCGYPEGGGSRVLSFNWY
                     EDNNYKAFLGIDSTRKDPIYSYDRRTTSFCNALIQSLESNPLTKIAWRAAKPLLMGKIL
                     YTPDSPAARRILKNANSTFEELEHVRKLVKAWEEVGPQIWYFFDNSTQMNMIRDTLGNP
                     TVKDFLNRQLGEEGITAEAILNFLYKGPRESQADDMANFDWRDIFNITDRTLRLVNQYL
                     ECLVLDKFESYNDETQLTQRALSLLEENMFWAGVVFPDMYPWTSSLPPHVKYKIRMDID
                     VVEKTNKIKDRYWDSGPRADPVEDFRYIWGGFAYLQDMVEQGITRSQVQAEAPVGIYLQ
                     QMPYPCFVDDSFMIILNRCFPIFMVLAWIYSVSMTVKSIVLEKELRLKETLKNQGVSNA
                     VIWCTWFLDSFSIMSMSIFLLTIFIMHGRILHYSDPFILFLFLLAFSTATIMLCFLLST
                     FFSKASLAAACSGVIYFTLYLPHILCFAWQDRMTAELKKAVSLLSPVAFGFGTEYLVRF
                     EEQGLGLQWSNIGNSPTEGDEFSFLLSMQMMLLDAAVYGLLAWYLDQVFPGDYGTPLPW
                     YFLLQESYWLGGEGCSTREERALEKTEPLTEETEDPEHPEGIHDSFFEREHPGWVPGVC
                     VKNLVKIFEPCGRPAVDRLNITFYENQITAFLGHNGAGKTTTLSILTGLLPPTSGTVLV
                     GGRDIETSLDAVRQSLGMCPQHNILFHHLTVAEHMLFYAQLKGKSQEEAQLEMEAMLED
                     TGLHHKRNEEAQDLSGGMQRKLSVAIAFVGDAKVVILDEPTSGVDPYSRRSIWDLLLKY
                     RSGRTIIMSTHHMDEADLLGDRIAIIAQGRLYCSGTPLFLKNCFGTGLYLTLVRKMKNI
                     QSQRKGSEGTCSCSSKGFSTTCPAHVDDLTPEQVLDGDVNELMDVVLHHVPEAKLVECI
                     GQELIFLLPNKNFKHRAYASLFRELEETLADLGLSSFGISDTPLEEIFLKVTEDSDSGP
                     LFAGGAQQKRENVNPRHPCLGPREKAGQTPQDSNVCSPGAPAAHPEGQPPPEPECPGPQ
                     LNTGTQLVLQHVQALLVKRFQHTIRSHKDFLAQIVLPATFVFLALMLSIVIPPFGEYPA
                     LTLHPWIYGQQYTFFSMDEPGSEQFTVLADVLLNKPGFGNRCLKEGWLPEYPCGNSTPW
                     KTPSVSPNITQLFQKQKWTQVNPSPSCRCSTREKLTMLPECPEGAGGLPPPQRTQRSTE
                     ILQDLTDRNISDFLVKTYPALIRSSLKSKFWVNEQRYGGISIGGKLPVVPITGEALVGF
                     LSDLGRIMNVSGGPITREASKEIPDFLKHLETEDNIKVWFNNKGWHALVSFLNVAHNAI
                     LRASLPKDRSPEEYGITVISQPLNLTKEQLSEITVLTTSVDAVVAICVIFSMSFVPASF
                     VLYLIQERVNKSKHLQFISGVSPTTYWVTNFLWDIMNYSVSAGLVVGIFIGFQKKAYTS
                     PENLPALVALLLLYGWAVIPMMYPASFLFDVPSTAYVALSCANLFIGINSSAITFILEL
                     FENNRTLLRFNAVLRKLLIVFPHFCLGRGLIDLALSQAVTDVYARFGEEHSANPFHWDL
                     IGKNLFAMVVEGVVYFLLTLLVQRHFFLSQWIAEPTKEPIVDEDDDVAEERQRIITGGN
                     KTDILRLHELTKIYPGTSSPAVDRLCVGVRPGECFGLLGVNGAGKTTTFKMLTGDTTVT
                     SGDATVAGKSILTNISEVHQNMGYCPQFDAIDELLTGREHLYLYARLRGVPAEEIEKVA
                     NWSIKSLGLTVYADCLAGTYSGGNKRKLSTAIALIGCPPLVLLDEPTTGMDPQARRMLW
                     NVIVSIIREGRAVVLTSHSMEECEALCTRLAIMVKGAFRCMGTIQHLKSKFGDGYIVTM
                     KIKSPKDDLLPDLNPVEQFFQGNFPGSVQRERHYNMLQFQVSSSSLARIFQLLLSHKDS
                     LLIEEYSVTQTTLDQVFVNFAKQQTESHDLPLHPRAAGASRQAQD"
     misc_feature    167..229
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78363.3);
                     transmembrane region"
     misc_feature    395..397
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:11320094,
                     ECO:0000269|PubMed:33605212, ECO:0007744|PDB:7LKP,
                     ECO:0007744|PDB:7LKZ; propagated from UniProtKB/Swiss-Prot
                     (P78363.3); glycosylation site"
     misc_feature    1346..1348
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:11320094,
                     ECO:0000269|PubMed:33605212, ECO:0007744|PDB:7LKP,
                     ECO:0007744|PDB:7LKZ; propagated from UniProtKB/Swiss-Prot
                     (P78363.3); glycosylation site"
     misc_feature    1433..1435
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:11320094,
                     ECO:0000269|PubMed:33605212, ECO:0007744|PDB:7LKP,
                     ECO:0007744|PDB:7LKZ; propagated from UniProtKB/Swiss-Prot
                     (P78363.3); glycosylation site"
     misc_feature    1613..1615
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:11320094,
                     ECO:0000269|PubMed:33605212, ECO:0007744|PDB:7LKP;
                     propagated from UniProtKB/Swiss-Prot (P78363.3);
                     glycosylation site"
     misc_feature    2042..2104
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78363.3);
                     transmembrane region"
     misc_feature    2201..2263
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78363.3);
                     transmembrane region"
     misc_feature    2294..2356
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78363.3);
                     transmembrane region"
     misc_feature    2381..2443
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78363.3);
                     transmembrane region"
     misc_feature    2609..2671
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78363.3);
                     transmembrane region"
     misc_feature    2774..2836
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78363.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2804..2806
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:F1MWM0; propagated from
                     UniProtKB/Swiss-Prot (P78363.3); phosphorylation site"
     misc_feature    3656..3658
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:F1MWM0; propagated from
                     UniProtKB/Swiss-Prot (P78363.3); phosphorylation site"
     misc_feature    3953..4138
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78363.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4028..4030
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="Cleavage, by trypsin.
                     /evidence=ECO:0000250|UniProtKB:F1MWM0; propagated from
                     UniProtKB/Swiss-Prot (P78363.3); cleavage site"
     misc_feature    4040..4042
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:F1MWM0; propagated from
                     UniProtKB/Swiss-Prot (P78363.3); phosphorylation site"
     misc_feature    4052..4054
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:F1MWM0; propagated from
                     UniProtKB/Swiss-Prot (P78363.3); phosphorylation site"
     misc_feature    4232..4294
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78363.3);
                     transmembrane region"
     misc_feature    4508..4510
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:11320094,
                     ECO:0000269|PubMed:33605212, ECO:0007744|PDB:7LKP,
                     ECO:0007744|PDB:7LKZ; propagated from UniProtKB/Swiss-Prot
                     (P78363.3); glycosylation site"
     misc_feature    4688..4690
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:11320094,
                     ECO:0000269|PubMed:33605212, ECO:0007744|PDB:7LKP,
                     ECO:0007744|PDB:7LKZ; propagated from UniProtKB/Swiss-Prot
                     (P78363.3); glycosylation site"
     misc_feature    4865..4867
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:11320094,
                     ECO:0000269|PubMed:33605212, ECO:0007744|PDB:7LKP,
                     ECO:0007744|PDB:7LKZ; propagated from UniProtKB/Swiss-Prot
                     (P78363.3); glycosylation site"
     misc_feature    5087..5089
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:11320094,
                     ECO:0000269|PubMed:33605212, ECO:0007744|PDB:7LKP,
                     ECO:0007744|PDB:7LKZ; propagated from UniProtKB/Swiss-Prot
                     (P78363.3); glycosylation site"
     misc_feature    5285..5347
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78363.3);
                     transmembrane region"
     misc_feature    5381..5443
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78363.3);
                     transmembrane region"
     misc_feature    5480..5542
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78363.3);
                     transmembrane region"
     misc_feature    5597..5659
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78363.3);
                     transmembrane region"
     misc_feature    5723..5785
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78363.3);
                     transmembrane region"
     misc_feature    6833..6850
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P78363.3);
                     Region: Essential for ATP binding and ATPase activity.
                     /evidence=ECO:0000269|PubMed:31481235"
     regulatory      7298..7303
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="hexamer: AATAAA"
     polyA_site      7328
                     /gene="ABCA4"
                     /gene_synonym="ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19;
                     STGD; STGD1"
                     /note="major polyA site"
ORIGIN
        1 ggacacagcg tccggagcca gaggcgctct taacggcgtt tatgtccttt gctgtctgag
       61 gggcctcagc tctgaccaat ctggtcttcg tgtggtcatt agcatgggct tcgtgagaca
      121 gatacagctt ttgctctgga agaactggac cctgcggaaa aggcaaaaga ttcgctttgt
      181 ggtggaactc gtgtggcctt tatctttatt tctggtcttg atctggttaa ggaatgccaa
      241 cccactctac agccatcatg aatgccattt ccccaacaag gcgatgccct cagcaggaat
      301 gctgccgtgg ctccagggga tcttctgcaa tgtgaacaat ccctgttttc aaagccccac
      361 cccaggagaa tctcctggaa ttgtgtcaaa ctataacaac tccatcttgg caagggtata
      421 tcgagatttt caagaactcc tcatgaatgc accagagagc cagcaccttg gccgtatttg
      481 gacagagcta cacatcttgt cccaattcat ggacaccctc cggactcacc cggagagaat
      541 tgcaggaaga ggaatacgaa taagggatat cttgaaagat gaagaaacac tgacactatt
      601 tctcattaaa aacatcggcc tgtctgactc agtggtctac cttctgatca actctcaagt
      661 ccgtccagag cagttcgctc atggagtccc ggacctggcg ctgaaggaca tcgcctgcag
      721 cgaggccctc ctggagcgct tcatcatctt cagccagaga cgcggggcaa agacggtgcg
      781 ctatgccctg tgctccctct cccagggcac cctacagtgg atagaagaca ctctgtatgc
      841 caacgtggac ttcttcaagc tcttccgtgt gcttcccaca ctcctagaca gccgttctca
      901 aggtatcaat ctgagatctt ggggaggaat attatctgat atgtcaccaa gaattcaaga
      961 gtttatccat cggccgagta tgcaggactt gctgtgggtg accaggcccc tcatgcagaa
     1021 tggtggtcca gagaccttta caaagctgat gggcatcctg tctgacctcc tgtgtggcta
     1081 ccccgaggga ggtggctctc gggtgctctc cttcaactgg tatgaagaca ataactataa
     1141 ggcctttctg gggattgact ccacaaggaa ggatcctatc tattcttatg acagaagaac
     1201 aacatccttt tgtaatgcat tgatccagag cctggagtca aatcctttaa ccaaaatcgc
     1261 ttggagggcg gcaaagcctt tgctgatggg aaaaatcctg tacactcctg attcacctgc
     1321 agcacgaagg atactgaaga atgccaactc aacttttgaa gaactggaac acgttaggaa
     1381 gttggtcaaa gcctgggaag aagtagggcc ccagatctgg tacttctttg acaacagcac
     1441 acagatgaac atgatcagag ataccctggg gaacccaaca gtaaaagact ttttgaatag
     1501 gcagcttggt gaagaaggta ttactgctga agccatccta aacttcctct acaagggccc
     1561 tcgggaaagc caggctgacg acatggccaa cttcgactgg agggacatat ttaacatcac
     1621 tgatcgcacc ctccgcctgg tcaatcaata cctggagtgc ttggtcctgg ataagtttga
     1681 aagctacaat gatgaaactc agctcaccca acgtgccctc tctctactgg aggaaaacat
     1741 gttctgggcc ggagtggtat tccctgacat gtatccctgg accagctctc taccacccca
     1801 cgtgaagtat aagatccgaa tggacataga cgtggtggag aaaaccaata agattaaaga
     1861 caggtattgg gattctggtc ccagagctga tcccgtggaa gatttccggt acatctgggg
     1921 cgggtttgcc tatctgcagg acatggttga acaggggatc acaaggagcc aggtgcaggc
     1981 ggaggctcca gttggaatct acctccagca gatgccctac ccctgcttcg tggacgattc
     2041 tttcatgatc atcctgaacc gctgtttccc tatcttcatg gtgctggcat ggatctactc
     2101 tgtctccatg actgtgaaga gcatcgtctt ggagaaggag ttgcgactga aggagacctt
     2161 gaaaaatcag ggtgtctcca atgcagtgat ttggtgtacc tggttcctgg acagcttctc
     2221 catcatgtcg atgagcatct tcctcctgac gatattcatc atgcatggaa gaatcctaca
     2281 ttacagcgac ccattcatcc tcttcctgtt cttgttggct ttctccactg ccaccatcat
     2341 gctgtgcttt ctgctcagca ccttcttctc caaggccagt ctggcagcag cctgtagtgg
     2401 tgtcatctat ttcaccctct acctgccaca catcctgtgc ttcgcctggc aggaccgcat
     2461 gaccgctgag ctgaagaagg ctgtgagctt actgtctccg gtggcatttg gatttggcac
     2521 tgagtacctg gttcgctttg aagagcaagg cctggggctg cagtggagca acatcgggaa
     2581 cagtcccacg gaaggggacg aattcagctt cctgctgtcc atgcagatga tgctccttga
     2641 tgctgctgtc tatggcttac tcgcttggta ccttgatcag gtgtttccag gagactatgg
     2701 aaccccactt ccttggtact ttcttctaca agagtcgtat tggcttggcg gtgaagggtg
     2761 ttcaaccaga gaagaaagag ccctggaaaa gaccgagccc ctaacagagg aaacggagga
     2821 tccagagcac ccagaaggaa tacacgactc cttctttgaa cgtgagcatc cagggtgggt
     2881 tcctggggta tgcgtgaaga atctggtaaa gatttttgag ccctgtggcc ggccagctgt
     2941 ggaccgtctg aacatcacct tctacgagaa ccagatcacc gcattcctgg gccacaatgg
     3001 agctgggaaa accaccacct tgtccatcct gacgggtctg ttgccaccaa cctctgggac
     3061 tgtgctcgtt gggggaaggg acattgaaac cagcctggat gcagtccggc agagccttgg
     3121 catgtgtcca cagcacaaca tcctgttcca ccacctcacg gtggctgagc acatgctgtt
     3181 ctatgcccag ctgaaaggaa agtcccagga ggaggcccag ctggagatgg aagccatgtt
     3241 ggaggacaca ggcctccacc acaagcggaa tgaagaggct caggacctat caggtggcat
     3301 gcagagaaag ctgtcggttg ccattgcctt tgtgggagat gccaaggtgg tgattctgga
     3361 cgaacccacc tctggggtgg acccttactc gagacgctca atctgggatc tgctcctgaa
     3421 gtatcgctca ggcagaacca tcatcatgtc cactcaccac atggacgagg ccgacctcct
     3481 tggggaccgc attgccatca ttgcccaggg aaggctctac tgctcaggca ccccactctt
     3541 cctgaagaac tgctttggca caggcttgta cttaaccttg gtgcgcaaga tgaaaaacat
     3601 ccagagccaa aggaaaggca gtgaggggac ctgcagctgc tcgtctaagg gtttctccac
     3661 cacgtgtcca gcccacgtcg atgacctaac tccagaacaa gtcctggatg gggatgtaaa
     3721 tgagctgatg gatgtagttc tccaccatgt tccagaggca aagctggtgg agtgcattgg
     3781 tcaagaactt atcttccttc ttccaaataa gaacttcaag cacagagcat atgccagcct
     3841 tttcagagag ctggaggaga cgctggctga ccttggtctc agcagttttg gaatttctga
     3901 cactcccctg gaagagattt ttctgaaggt cacggaggat tctgattcag gacctctgtt
     3961 tgcgggtggc gctcagcaga aaagagaaaa cgtcaacccc cgacacccct gcttgggtcc
     4021 cagagagaag gctggacaga caccccagga ctccaatgtc tgctccccag gggcgccggc
     4081 tgctcaccca gagggccagc ctcccccaga gccagagtgc ccaggcccgc agctcaacac
     4141 ggggacacag ctggtcctcc agcatgtgca ggcgctgctg gtcaagagat tccaacacac
     4201 catccgcagc cacaaggact tcctggcgca gatcgtgctc ccggctacct ttgtgttttt
     4261 ggctctgatg ctttctattg ttatccctcc ttttggcgaa taccccgctt tgacccttca
     4321 cccctggata tatgggcagc agtacacctt cttcagcatg gatgaaccag gcagtgagca
     4381 gttcacggta cttgcagacg tcctcctgaa taagccaggc tttggcaacc gctgcctgaa
     4441 ggaagggtgg cttccggagt acccctgtgg caactcaaca ccctggaaga ctccttctgt
     4501 gtccccaaac atcacccagc tgttccagaa gcagaaatgg acacaggtca acccttcacc
     4561 atcctgcagg tgcagcacca gggagaagct caccatgctg ccagagtgcc ccgagggtgc
     4621 cgggggcctc ccgccccccc agagaacaca gcgcagcacg gaaattctac aagacctgac
     4681 ggacaggaac atctccgact tcttggtaaa aacgtatcct gctcttataa gaagcagctt
     4741 aaagagcaaa ttctgggtca atgaacagag gtatggagga atttccattg gaggaaagct
     4801 cccagtcgtc cccatcacgg gggaagcact tgttgggttt ttaagcgacc ttggccggat
     4861 catgaatgtg agcgggggcc ctatcactag agaggcctct aaagaaatac ctgatttcct
     4921 taaacatcta gaaactgaag acaacattaa ggtgtggttt aataacaaag gctggcatgc
     4981 cctggtcagc tttctcaatg tggcccacaa cgccatctta cgggccagcc tgcctaagga
     5041 caggagcccc gaggagtatg gaatcaccgt cattagccaa cccctgaacc tgaccaagga
     5101 gcagctctca gagattacag tgctgaccac ttcagtggat gctgtggttg ccatctgcgt
     5161 gattttctcc atgtccttcg tcccagccag ctttgtcctt tatttgatcc aggagcgggt
     5221 gaacaaatcc aagcacctcc agtttatcag tggagtgagc cccaccacct actgggtgac
     5281 caacttcctc tgggacatca tgaattattc cgtgagtgct gggctggtgg tgggcatctt
     5341 catcgggttt cagaagaaag cctacacttc tccagaaaac cttcctgccc ttgtggcact
     5401 gctcctgctg tatggatggg cggtcattcc catgatgtac ccagcatcct tcctgtttga
     5461 tgtccccagc acagcctatg tggctttatc ttgtgctaat ctgttcatcg gcatcaacag
     5521 cagtgctatt accttcatct tggaattatt tgagaataac cggacgctgc tcaggttcaa
     5581 cgccgtgctg aggaagctgc tcattgtctt cccccacttc tgcctgggcc ggggcctcat
     5641 tgaccttgca ctgagccagg ctgtgacaga tgtctatgcc cggtttggtg aggagcactc
     5701 tgcaaatccg ttccactggg acctgattgg gaagaacctg tttgccatgg tggtggaagg
     5761 ggtggtgtac ttcctcctga ccctgctggt ccagcgccac ttcttcctct cccaatggat
     5821 tgccgagccc actaaggagc ccattgttga tgaagatgat gatgtggctg aagaaagaca
     5881 aagaattatt actggtggaa ataaaactga catcttaagg ctacatgaac taaccaagat
     5941 ttatccaggc acctccagcc cagcagtgga caggctgtgt gtcggagttc gccctggaga
     6001 gtgctttggc ctcctgggag tgaatggtgc cggcaaaaca accacattca agatgctcac
     6061 tggggacacc acagtgacct caggggatgc caccgtagca ggcaagagta ttttaaccaa
     6121 tatttctgaa gtccatcaaa atatgggcta ctgtcctcag tttgatgcaa ttgatgagct
     6181 gctcacagga cgagaacatc tttaccttta tgcccggctt cgaggtgtac cagcagaaga
     6241 aatcgaaaag gttgcaaact ggagtattaa gagcctgggc ctgactgtct acgccgactg
     6301 cctggctggc acgtacagtg ggggcaacaa gcggaaactc tccacagcca tcgcactcat
     6361 tggctgccca ccgctggtgc tgctggatga gcccaccaca gggatggacc cccaggcacg
     6421 ccgcatgctg tggaacgtca tcgtgagcat catcagagaa gggagggctg tggtcctcac
     6481 atcccacagc atggaagaat gtgaggcact gtgtacccgg ctggccatca tggtaaaggg
     6541 cgcctttcga tgtatgggca ccattcagca tctcaagtcc aaatttggag atggctatat
     6601 cgtcacaatg aagatcaaat ccccgaagga cgacctgctt cctgacctga accctgtgga
     6661 gcagttcttc caggggaact tcccaggcag tgtgcagagg gagaggcact acaacatgct
     6721 ccagttccag gtctcctcct cctccctggc gaggatcttc cagctcctcc tctcccacaa
     6781 ggacagcctg ctcatcgagg agtactcagt cacacagacc acactggacc aggtgtttgt
     6841 aaattttgct aaacagcaga ctgaaagtca tgacctccct ctgcaccctc gagctgctgg
     6901 agccagtcga caagcccagg actgatcttt cacaccgctc gttcctgcag ccagaaagga
     6961 actctgggca gctggaggcg caggagcctg tgcccatatg gtcatccaaa tggactggcc
     7021 agcgtaaatg accccactgc agcagaaaac aaacacacga ggagcatgca gcgaattcag
     7081 aaagaggtct ttcagaagga aaccgaaact gacttgctca cctggaacac ctgatggtga
     7141 aaccaaacaa atacaaaatc cttctccaga ccccagaact agaaaccccg ggccatccca
     7201 ctagcagctt tggcctccat attgctctca tttcaagcag atctgctttt ctgcatgttt
     7261 gtctgtgtgt ctgcgttgtg tgtgattttc atggaaaaat aaaatgcaaa tgcactcatc
     7321 acaaacta
//
LOCUS       NM_000352               4921 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens ATP binding cassette subfamily C member 8 (ABCC8),
            transcript variant 2, mRNA.
ACCESSION   NM_000352
VERSION     NM_000352.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4921)
  AUTHORS   Qin C, Diaz-Gallo LM, Tang B, Wang Y, Nguyen TD, Harder A, Lu Y,
            Padyukov L, Askling J and Hagg S.
  TITLE     Repurposing antidiabetic drugs for rheumatoid arthritis: results
            from a two-sample Mendelian randomization study
  JOURNAL   Eur J Epidemiol 38 (7), 809-819 (2023)
   PUBMED   37052755
  REMARK    GeneRIF: Repurposing antidiabetic drugs for rheumatoid arthritis:
            results from a two-sample Mendelian randomization study.
REFERENCE   2  (bases 1 to 4921)
  AUTHORS   Silvestri F, Tromba V, Schiaffini R, Costantino F, Barbetti F and
            Prudente S.
  TITLE     The Arg1379His mutation in ABCC8 causes monogenic diabetes with
            variable phenotype presentation and incomplete penetrance
  JOURNAL   Acta Diabetol 60 (7), 989-993 (2023)
   PUBMED   36944758
  REMARK    GeneRIF: The Arg1379His mutation in ABCC8 causes monogenic diabetes
            with variable phenotype presentation and incomplete penetrance.
REFERENCE   3  (bases 1 to 4921)
  AUTHORS   Yorifuji T, Watanabe Y, Kitayama K, Yamada Y, Higuchi S, Mori J,
            Kato M, Takahashi T, Okuda T and Aoyama T.
  TITLE     Targeted gene panel analysis of Japanese patients with
            maturity-onset diabetes of the young-like diabetes mellitus: Roles
            of inactivating variants in the ABCC8 and insulin resistance genes
  JOURNAL   J Diabetes Investig 14 (3), 387-403 (2023)
   PUBMED   36504295
  REMARK    GeneRIF: Targeted gene panel analysis of Japanese patients with
            maturity-onset diabetes of the young-like diabetes mellitus: Roles
            of inactivating variants in the ABCC8 and insulin resistance genes.
REFERENCE   4  (bases 1 to 4921)
  AUTHORS   Bryan J, Munoz A, Zhang X, Dufer M, Drews G, Krippeit-Drews P and
            Aguilar-Bryan L.
  TITLE     ABCC8 and ABCC9: ABC transporters that regulate K+ channels
  JOURNAL   Pflugers Arch 453 (5), 703-718 (2007)
   PUBMED   16897043
  REMARK    Review article
REFERENCE   5  (bases 1 to 4921)
  AUTHORS   Inagaki N, Gonoi T, Clement JP 4th, Namba N, Inazawa J, Gonzalez G,
            Aguilar-Bryan L, Seino S and Bryan J.
  TITLE     Reconstitution of IKATP: an inward rectifier subunit plus the
            sulfonylurea receptor
  JOURNAL   Science 270 (5239), 1166-1170 (1995)
   PUBMED   7502040
REFERENCE   6  (bases 1 to 4921)
  AUTHORS   Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W,
            Aguilar-Bryan L, Gagel RF and Bryan J.
  TITLE     Mutations in the sulfonylurea receptor gene in familial persistent
            hyperinsulinemic hypoglycemia of infancy
  JOURNAL   Science 268 (5209), 426-429 (1995)
   PUBMED   7716548
REFERENCE   7  (bases 1 to 4921)
  AUTHORS   Aguilar-Bryan L, Nichols CG, Wechsler SW, Clement JP 4th, Boyd AE
            3rd, Gonzalez G, Herrera-Sosa H, Nguy K, Bryan J and Nelson DA.
  TITLE     Cloning of the beta cell high-affinity sulfonylurea receptor: a
            regulator of insulin secretion
  JOURNAL   Science 268 (5209), 423-426 (1995)
   PUBMED   7716547
REFERENCE   8  (bases 1 to 4921)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   29792621
REFERENCE   9  (bases 1 to 4921)
  AUTHORS   De Leon,D.D. and Stanley,C.A.
  TITLE     Permanent Neonatal Diabetes Mellitus
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301620
REFERENCE   10  (bases 1 to 4921)
  AUTHORS   Gillis,D.
  TITLE     Familial Hyperinsulinism
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301549
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L78207.1, AF087138.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145313
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000389817.8/ ENSP00000374467.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124798.5, AF087138.1,
            R84665.1, BM352492.1 and BM313666.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 8, 2019 this sequence version replaced NM_000352.5.
            Summary: The protein encoded by this gene is a member of the
            superfamily of ATP-binding cassette (ABC) transporters. ABC
            proteins transport various molecules across extra- and
            intra-cellular membranes. ABC genes are divided into seven distinct
            subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This
            protein is a member of the MRP subfamily which is involved in
            multi-drug resistance. This protein functions as a modulator of
            ATP-sensitive potassium channels and insulin release. Mutations in
            the ABCC8 gene and deficiencies in the encoded protein have been
            observed in patients with hyperinsulinemic hypoglycemia of infancy,
            an autosomal recessive disorder of unregulated and high insulin
            secretion. Mutations have also been associated with
            non-insulin-dependent diabetes mellitus type II, an autosomal
            dominant disease of defective insulin secretion. Alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Jul 2020].
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region compared to variant 3. The
            encoded isoform (2) is shorter than isoform 3. Isoforms 2 and 4 are
            the same length but differ in sequence.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4921
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     gene            1..4921
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="ATP binding cassette subfamily C member 8"
                     /db_xref="GeneID:6833"
                     /db_xref="HGNC:HGNC:59"
                     /db_xref="MIM:600509"
     CDS             70..4815
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     sulfonylurea receptor (hyperinsulinemia); ATP-binding
                     cassette transporter sub-family C member 8; sulfonylurea
                     receptor 1; ATP-binding cassette, sub-family C (CFTR/MRP),
                     member 8"
                     /codon_start=1
                     /product="ATP-binding cassette sub-family C member 8
                     isoform 2"
                     /protein_id="NP_000343.2"
                     /db_xref="CCDS:CCDS31437.1"
                     /db_xref="GeneID:6833"
                     /db_xref="HGNC:HGNC:59"
                     /db_xref="MIM:600509"
                     /translation="MPLAFCGSENHSAAYRVDQGVLNNGCFVDALNVVPHVFLLFITFP
                     ILFIGWGSQSSKVHIHHSTWLHFPGHNLRWILTFMLLFVLVCEIAEGILSDGVTESHHL
                     HLYMPAGMAFMAAVTSVVYYHNIETSNFPKLLIALLVYWTLAFITKTIKFVKFLDHAIG
                     FSQLRFCLTGLLVILYGMLLLVEVNVIRVRRYIFFKTPREVKPPEDLQDLGVRFLQPFV
                     NLLSKGTYWWMNAFIKTAHKKPIDLRAIGKLPIAMRALTNYQRLCEAFDAQVRKDIQGT
                     QGARAIWQALSHAFGRRLVLSSTFRILADLLGFAGPLCIFGIVDHLGKENDVFQPKTQF
                     LGVYFVSSQEFLANAYVLAVLLFLALLLQRTFLQASYYVAIETGINLRGAIQTKIYNKI
                     MHLSTSNLSMGEMTAGQICNLVAIDTNQLMWFFFLCPNLWAMPVQIIVGVILLYYILGV
                     SALIGAAVIILLAPVQYFVATKLSQAQRSTLEYSNERLKQTNEMLRGIKLLKLYAWENI
                     FRTRVETTRRKEMTSLRAFAIYTSISIFMNTAIPIAAVLITFVGHVSFFKEADFSPSVA
                     FASLSLFHILVTPLFLLSSVVRSTVKALVSVQKLSEFLSSAEIREEQCAPHEPTPQGPA
                     SKYQAVPLRVVNRKRPAREDCRGLTGPLQSLVPSADGDADNCCVQIMGGYFTWTPDGIP
                     TLSNITIRIPRGQLTMIVGQVGCGKSSLLLAALGEMQKVSGAVFWSSLPDSEIGEDPSP
                     ERETATDLDIRKRGPVAYASQKPWLLNATVEENIIFESPFNKQRYKMVIEACSLQPDID
                     ILPHGDQTQIGERGINLSGGQRQRISVARALYQHANVVFLDDPFSALDIHLSDHLMQAG
                     ILELLRDDKRTVVLVTHKLQYLPHADWIIAMKDGTIQREGTLKDFQRSECQLFEHWKTL
                     MNRQDQELEKETVTERKATEPPQGLSRAMSSRDGLLQDEEEEEEEAAESEEDDNLSSML
                     HQRAEIPWRACAKYLSSAGILLLSLLVFSQLLKHMVLVAIDYWLAKWTDSALTLTPAAR
                     NCSLSQECTLDQTVYAMVFTVLCSLGIVLCLVTSVTVEWTGLKVAKRLHRSLLNRIILA
                     PMRFFETTPLGSILNRFSSDCNTIDQHIPSTLECLSRSTLLCVSALAVISYVTPVFLVA
                     LLPLAIVCYFIQKYFRVASRDLQQLDDTTQLPLLSHFAETVEGLTTIRAFRYEARFQQK
                     LLEYTDSNNIASLFLTAANRWLEVRMEYIGACVVLIAAVTSISNSLHRELSAGLVGLGL
                     TYALMVSNYLNWMVRNLADMELQLGAVKRIHGLLKTEAESYEGLLAPSLIPKNWPDQGK
                     IQIQNLSVRYDSSLKPVLKHVNALIAPGQKIGICGRTGSGKSSFSLAFFRMVDTFEGHI
                     IIDGIDIAKLPLHTLRSRLSIILQDPVLFSGTIRFNLDPERKCSDSTLWEALEIAQLKL
                     VVKALPGGLDAIITEGGENFSQGQRQLFCLARAFVRKTSIFIMDEATASIDMATENILQ
                     KVVMTAFADRTVVTIAHRVHTILSADLVIVLKRGAILEFDKPEKLLSRKDSVFASFVRA
                     DK"
     misc_feature    97..99
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (Q09428.6); glycosylation site"
     misc_feature    172..234
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     misc_feature    295..357
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     misc_feature    373..435
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     misc_feature    472..531
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     misc_feature    571..651
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     misc_feature    1003..1062
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     misc_feature    1135..1197
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     misc_feature    1372..1434
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     misc_feature    1444..1506
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     misc_feature    1693..1755
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     misc_feature    1822..1884
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     misc_feature    2872..3030
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3082..3144
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     misc_feature    3214..3216
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (Q09428.6); glycosylation site"
     misc_feature    3286..3348
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     misc_feature    3481..3543
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     misc_feature    3547..3609
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     misc_feature    3823..3885
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     misc_feature    3898..3960
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q09428.6);
                     transmembrane region"
     regulatory      4897..4902
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="hexamer: AATAAA"
     polyA_site      4921
                     /gene="ABCC8"
                     /gene_synonym="ABC36; HHF1; HI; HRINS; MRP8; PHHI; PNDM3;
                     SUR; SUR1; SUR1delta2; TNDM2"
                     /note="major polyA site"
ORIGIN
        1 agaggcgcgg caggcgcgcg gagccagcgg agccagctga gcccgagccc agcccgcgcc
       61 cgcgccgcca tgcccctggc cttctgcggc agcgagaacc actcggccgc ctaccgggtg
      121 gaccaggggg tcctcaacaa cggctgcttt gtggacgcgc tcaacgtggt gccgcacgtc
      181 ttcctactct tcatcacctt ccccatcctc ttcattggat ggggaagtca gagctccaag
      241 gtgcacatcc accacagcac atggcttcat ttccctgggc acaacctgcg gtggatcctg
      301 accttcatgc tgctcttcgt cctggtgtgt gagattgcag agggcatcct gtctgatggg
      361 gtgaccgaat cccaccatct gcacctgtac atgccagccg ggatggcgtt catggctgct
      421 gtcacctccg tggtctacta tcacaacatc gagacttcca acttccccaa gctgctaatt
      481 gccctgctgg tgtattggac cctggccttc atcaccaaga ccatcaagtt tgtcaagttc
      541 ttggaccacg ccatcggctt ctcgcagcta cgcttctgcc tcacagggct gctggtgatc
      601 ctctatggga tgctgctcct cgtggaggtc aatgtcatca gggtgaggag atacatcttc
      661 ttcaagacac cgagggaggt gaagcctccc gaggacctgc aagacctggg ggtacgcttc
      721 ctgcagccct tcgtgaatct gctgtccaaa ggcacctact ggtggatgaa cgccttcatc
      781 aagactgccc acaagaagcc catcgacttg cgagccatcg ggaagctgcc catcgccatg
      841 agggccctca ccaactacca acggctctgc gaggcctttg acgcccaggt gcggaaggac
      901 attcagggca ctcaaggtgc ccgggccatc tggcaggcac tcagccatgc cttcgggagg
      961 cgcctggtcc tcagcagcac tttccgcatc ttggccgacc tgctgggctt cgccgggcca
     1021 ctgtgcatct ttgggatcgt ggaccacctt gggaaggaga acgacgtctt ccagcccaag
     1081 acacaatttc tcggggttta ctttgtctca tcccaagagt tccttgccaa tgcctacgtc
     1141 ttagctgtgc ttctgttcct tgccctccta ctgcaaagga catttctgca agcatcctac
     1201 tatgtggcca ttgaaactgg aattaacttg agaggagcaa tacagaccaa gatttacaat
     1261 aaaattatgc acctgtccac ctccaacctg tccatgggag aaatgactgc tggacagatc
     1321 tgtaatctgg ttgccatcga caccaatcag ctcatgtggt ttttcttctt gtgcccaaac
     1381 ctctgggcta tgccagtaca gatcattgtg ggtgtgattc tcctctacta catactcgga
     1441 gtcagtgcct taattggagc agctgtcatc attctactgg ctcctgtcca gtacttcgtg
     1501 gccaccaagc tgtctcaggc ccagcggagc acactggagt attccaatga gcggctgaag
     1561 cagaccaacg agatgctccg cggcatcaag ctgctgaagc tgtacgcctg ggagaacatc
     1621 ttccgcacgc gggtggagac gacccgcagg aaggagatga ccagcctcag ggcctttgcc
     1681 atctatacct ccatctccat tttcatgaac acggccatcc ccattgcagc tgtcctcata
     1741 actttcgtgg gccacgtcag cttcttcaaa gaggccgact tctcgccctc cgtggccttt
     1801 gcctccctct ccctcttcca tatcttggtc acaccgctgt tcctgctgtc cagtgtggtc
     1861 cgatctaccg tcaaagctct agtgagcgtg caaaagctaa gcgagttcct gtccagtgca
     1921 gagatccgtg aggagcagtg tgccccccat gagcccacac ctcagggccc agccagcaag
     1981 taccaggcgg tgcccctcag ggttgtgaac cgcaagcgtc cagcccggga ggattgtcgg
     2041 ggcctcaccg gcccactgca gagcctggtc cccagtgcag atggcgatgc tgacaactgc
     2101 tgtgtccaga tcatgggagg ctacttcacg tggaccccag atggaatccc cacactgtcc
     2161 aacatcacca ttcgtatccc ccgaggccag ctgactatga tcgtggggca ggtgggctgc
     2221 ggcaagtcct cgctccttct agccgcactg ggggagatgc agaaggtctc aggggctgtc
     2281 ttctggagca gccttcctga cagcgagata ggagaggacc ccagcccaga gcgggagaca
     2341 gcgaccgact tggatatcag gaagagaggc cccgtggcct atgcttcgca gaaaccatgg
     2401 ctgctaaatg ccactgtgga ggagaacatc atctttgaga gtcccttcaa caaacaacgg
     2461 tacaagatgg tcattgaagc ctgctctctg cagccagaca tcgacatcct gccccatgga
     2521 gaccagaccc agattgggga acggggcatc aacctgtctg gtggtcaacg ccagcgaatc
     2581 agtgtggccc gagccctcta ccagcacgcc aacgttgtct tcttggatga ccccttctca
     2641 gctctggata tccatctgag tgaccactta atgcaggccg gcatccttga gctgctccgg
     2701 gacgacaaga ggacagtggt cttagtgacc cacaagctac agtacctgcc ccatgcagac
     2761 tggatcattg ccatgaagga tggcaccatc cagagggagg gtaccctcaa ggacttccag
     2821 aggtctgaat gccagctctt tgagcactgg aagaccctca tgaaccgaca ggaccaagag
     2881 ctggagaagg agactgtcac agagagaaaa gccacagagc caccccaggg cctatctcgt
     2941 gccatgtcct cgagggatgg ccttctgcag gatgaggaag aggaggaaga ggaggcagct
     3001 gagagcgagg aggatgacaa cctgtcgtcc atgctgcacc agcgtgctga gatcccatgg
     3061 cgagcctgcg ccaagtacct gtcctccgcc ggcatcctgc tcctgtcgtt gctggtcttc
     3121 tcacagctgc tcaagcacat ggtcctggtg gccatcgact actggctggc caagtggacc
     3181 gacagcgccc tgaccctgac ccctgcagcc aggaactgct ccctcagcca ggagtgcacc
     3241 ctcgaccaga ctgtctatgc catggtgttc acggtgctct gcagcctggg cattgtgctg
     3301 tgcctcgtca cgtctgtcac tgtggagtgg acagggctga aggtggccaa gagactgcac
     3361 cgcagcctgc taaaccggat catcctagcc cccatgaggt tttttgagac cacgcccctt
     3421 gggagcatcc tgaacagatt ttcatctgac tgtaacacca tcgaccagca catcccatcc
     3481 acgctggagt gcctgagccg ctccaccctg ctctgtgtct cagccctggc cgtcatctcc
     3541 tatgtcacac ctgtgttcct cgtggccctc ttgcccctgg ccatcgtgtg ctacttcatc
     3601 cagaagtact tccgggtggc gtccagggac ctgcagcagc tggatgacac cacccagctt
     3661 ccacttctct cacactttgc cgaaaccgta gaaggactca ccaccatccg ggccttcagg
     3721 tatgaggccc ggttccagca gaagcttctc gaatacacag actccaacaa cattgcttcc
     3781 ctcttcctca cagctgccaa cagatggctg gaagtccgaa tggagtacat cggtgcatgt
     3841 gtggtgctca tcgcagcggt gacctccatc tccaactccc tgcacaggga gctctctgct
     3901 ggcctggtgg gcctgggcct tacctacgcc ctaatggtct ccaactacct caactggatg
     3961 gtgaggaacc tggcagacat ggagctccag ctgggggctg tgaagcgcat ccatgggctc
     4021 ctgaaaaccg aggcagagag ctacgagggg ctcctggcac catcgctgat cccaaagaac
     4081 tggccagacc aagggaagat ccagatccag aacctgagcg tgcgctacga cagctccctg
     4141 aagccggtgc tgaagcacgt caatgccctc atcgcccctg gacagaagat cgggatctgc
     4201 ggccgcaccg gcagtgggaa gtcctccttc tctcttgcct tcttccgcat ggtggacacg
     4261 ttcgaagggc acatcatcat tgatggcatt gacatcgcca aactgccgct gcacaccctg
     4321 cgctcacgcc tctccatcat cctgcaggac cccgtcctct tcagcggcac catccgattt
     4381 aacctggacc ctgagaggaa gtgctcagat agcacactgt gggaggccct ggaaatcgcc
     4441 cagctgaagc tggtggtgaa ggcactgcca ggaggcctcg atgccatcat cacagaaggc
     4501 ggggagaatt tcagccaggg acagaggcag ctgttctgcc tggcccgggc cttcgtgagg
     4561 aagaccagca tcttcatcat ggacgaggcc acggcttcca ttgacatggc cacggaaaac
     4621 atcctccaaa aggtggtgat gacagccttc gcagaccgca ctgtggtcac catcgcgcat
     4681 cgagtgcaca ccatcctgag tgcagacctg gtgatcgtcc tgaagcgggg tgccatcctt
     4741 gagttcgata agccagagaa gctgctcagc cggaaggaca gcgtcttcgc ctccttcgtc
     4801 cgtgcagaca agtgacctgc cagagcccaa gtgccatccc acattcggac cctgcccata
     4861 cccctgcctg ggttttctaa ctgtaaatca cttgtaaata aatagatttg attatttcct
     4921 a
//
LOCUS       NM_000353               3945 bp    mRNA    linear   PRI 05-JUL-2023
DEFINITION  Homo sapiens tyrosine aminotransferase (TAT), mRNA.
ACCESSION   NM_000353
VERSION     NM_000353.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3945)
  AUTHORS   Giacoletto CJ, Benjamin R, Deng HW, Rotter JI and Schiller MR.
  TITLE     Most synonymous allelic variants in HIV tat are not silent
  JOURNAL   Genomics 115 (3), 110603 (2023)
   PUBMED   36893872
  REMARK    GeneRIF: Most synonymous allelic variants in HIV tat are not silent.
REFERENCE   2  (bases 1 to 3945)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 3945)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3945)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3945)
  AUTHORS   Pena-Quintana L, Scherer G, Curbelo-Estevez ML, Jimenez-Acosta F,
            Hartmann B, La Roche F, Meavilla-Olivas S, Perez-Cerda C,
            Garcia-Segarra N, Giguere Y, Huppke P, Mitchell GA, Monch E, Trump
            D, Vianey-Saban C, Trimble ER, Vitoria-Minana I, Reyes-Suarez D,
            Ramirez-Lorenzo T and Tugores A.
  TITLE     Tyrosinemia type II: Mutation update, 11 novel mutations and
            description of 5 independent subjects with a novel founder mutation
  JOURNAL   Clin Genet 92 (3), 306-317 (2017)
   PUBMED   28255985
  REMARK    GeneRIF: Data analysis did not reveal a genotype-phenotype
            correlation, but stressed the need of early diagnosis: All patients
            improved the oculocutaneous lesions after dietary treatment but
            neurological symptoms prevailed. The discovery of founder mutations
            in isolated populations, and the benefits of early intervention,
            should increase diagnostic awareness in newborns.
REFERENCE   6  (bases 1 to 3945)
  AUTHORS   Natt E, Kida K, Odievre M, Di Rocco M and Scherer G.
  TITLE     Point mutations in the tyrosine aminotransferase gene in tyrosinemia
            type II
  JOURNAL   Proc Natl Acad Sci U S A 89 (19), 9297-9301 (1992)
   PUBMED   1357662
REFERENCE   7  (bases 1 to 3945)
  AUTHORS   Chitayat D, Balbul A, Hani V, Mamer OA, Clow C and Scriver CR.
  TITLE     Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish
            family: intrafamilial variation in phenotype; absence of parental
            phenotype effects on the fetus
  JOURNAL   J Inherit Metab Dis 15 (2), 198-203 (1992)
   PUBMED   1356171
REFERENCE   8  (bases 1 to 3945)
  AUTHORS   Rettenmeier R, Natt E, Zentgraf H and Scherer G.
  TITLE     Isolation and characterization of the human tyrosine
            aminotransferase gene
  JOURNAL   Nucleic Acids Res 18 (13), 3853-3861 (1990)
   PUBMED   1973834
REFERENCE   9  (bases 1 to 3945)
  AUTHORS   Natt E, Westphal EM, Toth-Fejel SE, Magenis RE, Buist NR,
            Rettenmeier R and Scherer G.
  TITLE     Inherited and de novo deletion of the tyrosine aminotransferase gene
            locus at 16q22.1----q22.3 in a patient with tyrosinemia type II
  JOURNAL   Hum Genet 77 (4), 352-358 (1987)
   PUBMED   2891604
REFERENCE   10  (bases 1 to 3945)
  AUTHORS   Natt,E., Kao,F.T., Rettenmeier,R. and Scherer,G.
  TITLE     Assignment of the human tyrosine aminotransferase gene to chromosome
            16
  JOURNAL   Hum Genet 72 (3), 225-228 (1986)
   PUBMED   2870018
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X52520.1, HM005657.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN04284274
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000355962.5/ ENSP00000348234.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010547.9.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000353.2.
            Summary: This nuclear gene encodes a mitochondrial protein tyrosine
            aminotransferase which is present in the liver and catalyzes the
            conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in
            this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a
            disorder accompanied by major skin and corneal lesions, with
            possible cognitive disability. A regulator gene for tyrosine
            aminotransferase is X-linked. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3945
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.2"
     gene            1..3945
                     /gene="TAT"
                     /note="tyrosine aminotransferase"
                     /db_xref="GeneID:6898"
                     /db_xref="HGNC:HGNC:11573"
                     /db_xref="MIM:613018"
     CDS             97..1461
                     /gene="TAT"
                     /EC_number="2.6.1.5"
                     /note="tyrosine aminotransferase, cytosolic;
                     L-tyrosine:2-oxoglutarate aminotransferase; testis tissue
                     sperm-binding protein Li 34a"
                     /codon_start=1
                     /product="tyrosine aminotransferase"
                     /protein_id="NP_000344.1"
                     /db_xref="CCDS:CCDS10903.1"
                     /db_xref="GeneID:6898"
                     /db_xref="HGNC:HGNC:11573"
                     /db_xref="MIM:613018"
                     /translation="MDPYMIQMSSKGNLPSILDVHVNVGGRSSVPGKMKGRKARWSVRP
                     SDMAKKTFNPIRAIVDNMKVKPNPNKTMISLSIGDPTVFGNLPTDPEVTQAMKDALDSG
                     KYNGYAPSIGFLSSREEIASYYHCPEAPLEAKDVILTSGCSQAIDLCLAVLANPGQNIL
                     VPRPGFSLYKTLAESMGIEVKLYNLLPEKSWEIDLKQLEYLIDEKTACLIVNNPSNPCG
                     SVFSKRHLQKILAVAARQCVPILADEIYGDMVFSDCKYEPLATLSTDVPILSCGGLAKR
                     WLVPGWRLGWILIHDRRDIFGNEIRDGLVKLSQRILGPCTIVQGALKSILCRTPGEFYH
                     NTLSFLKSNADLCYGALAAIPGLRPVRPSGAMYLMVGIEMEHFPEFENDVEFTERLVAE
                     QSVHCLPATCFEYPNFIRVVITVPEVMMLEACSRIQEFCEQHYHCAEGSQEECDK"
     misc_feature    97..99
                     /gene="TAT"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000250|UniProtKB:P04694; propagated from
                     UniProtKB/Swiss-Prot (P17735.1); acetylation site"
     misc_feature    1438..1440
                     /gene="TAT"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P17735.1); phosphorylation site"
     regulatory      2069..2074
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TAT"
                     /note="hexamer: AATAAA"
     polyA_site      2088
                     /gene="TAT"
                     /note="major polyA site"
     regulatory      3921..3926
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TAT"
                     /note="hexamer: AATAAA"
     polyA_site      3945
                     /gene="TAT"
                     /note="major polyA site"
ORIGIN
        1 attgcccctg taacctgtca aagaagagct aagggagctt tcggggttgg cttcttggag
       61 gctgctttct cctttacttg gaaggcttcg ctagtgatgg acccatacat gattcagatg
      121 agcagcaaag gcaacctccc ctcaattctg gacgtgcatg tcaacgttgg tgggagaagc
      181 tctgtgccgg gaaaaatgaa aggcagaaag gccaggtggt ctgtgaggcc ctcagacatg
      241 gccaagaaaa ctttcaaccc catccgagcc attgtggaca acatgaaggt gaaaccaaat
      301 ccaaacaaaa ccatgatttc cctgtccatt ggggacccta ctgtgtttgg aaacctgcct
      361 acagaccctg aagttaccca ggcaatgaaa gatgccctgg actcgggcaa atataatggc
      421 tatgccccat ccatcggctt cctatccagt cgggaggaga ttgcttctta ttaccactgt
      481 cctgaggcac ccctagaagc taaggacgtc attctgacaa gtggctgcag ccaagctatt
      541 gacctttgtt tagctgtgtt ggccaaccca gggcaaaaca tcctggttcc aagacctggt
      601 ttctctctct acaagactct ggctgagtct atgggaattg aggtcaaact ctacaatttg
      661 ttgccagaga aatcttggga aattgacctg aaacaactgg aatatctaat tgatgaaaag
      721 acagcttgtc tcattgtcaa taatccatca aacccctgtg ggtcagtgtt cagcaaacgt
      781 catcttcaga agattctggc agtggctgca cggcagtgtg tccccatctt agctgatgag
      841 atctatggag acatggtgtt ttcggattgc aaatatgaac cactggccac cctcagcacc
      901 gatgtcccca tcctgtcctg tggagggctg gccaagcgct ggctggttcc tggctggagg
      961 ttgggctgga tcctcattca tgaccgaaga gacatttttg gcaatgagat ccgagatggg
     1021 ctggtgaagc tgagtcagcg cattttggga ccctgtacca ttgtccaggg agctctgaaa
     1081 agcatcctat gtcgcacccc gggagagttt taccacaaca ctctgagctt cctcaagtcc
     1141 aatgctgatc tctgttatgg ggcgttggct gccatccctg gactccggcc agtccgccct
     1201 tctggggcta tgtacctcat ggttggaatt gagatggaac atttcccaga atttgagaac
     1261 gatgtggagt tcacggagcg gttagttgct gagcagtctg tccactgcct cccagcaacg
     1321 tgctttgagt acccgaattt catccgagtg gtcatcacag tccccgaggt gatgatgctg
     1381 gaggcgtgca gccggatcca ggagttctgt gagcagcact accattgtgc tgaaggcagc
     1441 caggaggagt gtgataaata ggcctgcatc cattctcctg aggatgtgtc ccatctaggg
     1501 aaggctggac taggccttgc ggctcctcag ggactcaggt ggccctactg ggagaggggc
     1561 ctcaaatgca ccatgtcaag ggttcaagat tgttcctgct tttccccaag tacaaccaca
     1621 cccacactca gatcctcctc attcacatcg cagattctcc cttgctctgc gctgctagag
     1681 tgactcacta attcattaat ctgcctccct ctcgtaagat ttccttcttt ttttcttgaa
     1741 agtaccaggt gaacaaagtt taccagaaag cagttgagac aagaaaataa gagctcagga
     1801 tgagggaaaa gaaaaagatt gagagaattt gtgcccccaa ccatttcctc agactctaag
     1861 aaagaacacg ctctctccag gcaggtctga agctcaactc tcttattgcc tcacttcagg
     1921 tatacctcac tttacacaat agaattataa ctggaaagaa gttggggaca catgtatttg
     1981 gtgattacat tttaaacaca ttaggaaaag ttgctatttg aactttttat tgatttttgg
     2041 ggggagtaaa gaattatttt gtgatgcaaa taaatatcct ttaattgatc gacttgccaa
     2101 atttagattt gtgtgcatca ggctttcttt tttttctttt tttagagaag ttcaatataa
     2161 gcttttcttt tctttgtttc tttctttctt tattttgaga tggagtcttg ctctgtcgcc
     2221 catgctggag tgcagtggcg cgatctcggc tcactgcaac ctccacctcc tgggttcaag
     2281 cgattctctt gcctcaacct cccaagcagt tgggactaca ggcgtgagcc accatgcccg
     2341 gctaattttt gtatttttag tagagacagg gtttcaccat gttagccagg ctggtctcaa
     2401 actcctgacc tcaggcaatc tgcccgcctg ggtctcctaa agtactggga ttacaggcgt
     2461 gagccacctc gcccagcggc atcaggcttt cttaaagtga gagcacgcct gtactagagc
     2521 aagcaggaat cagagacctt ccagaaatac tactgtgtaa gggccagaaa tatcttcact
     2581 tgtcattgtt atataatcat tattactttt gctgtaatgt taatattgat ttattaatat
     2641 atattatctt ttcatacatt ttctaagaaa catttatatt gataagatct tttattttgc
     2701 caagggcata aattattgtt tttctttttt tttttttaat aaatttcacc aagtatggct
     2761 cttctgtgat gtgttttttt ctccgtttgg gaatttctaa tcccaggcac tcctcagtct
     2821 cattgtttca ttacctatga ggtttcattt acttctttgt aaatgtactg acttttggag
     2881 ttacttaaga accacagttc ctaaaacatt ttatttggga gctcaacttc tggcttccta
     2941 cttaccaaga ggcagtaagt tataacctct ggcctttgtc tttacatttt caactttctg
     3001 gatccctaac ctctggtccc aagttactac gcttgcctat atccactaac cactcactag
     3061 gtcacaaagt tgatggctct ggcttgaccc agtgaatgag aagtgtccta gatgtttttt
     3121 tttttttttt tttttcgcaa atcttcatag gcacagttgc ctgtttaatt ttttcttcag
     3181 cccttccctt agaggaggga gccttaagtt acctttcaag gttgggggtt aggaatctat
     3241 cataactagt ctagagattt ctcaccaagg gaaattttcc ttatctaaaa gaggaacttc
     3301 aggtctcaac cctgccagtc acacccaatt aatgtccttc acaaaaataa acagcatatg
     3361 ttccctttca atttgagttc agtgagctca cagcaaaatt taccttttaa ttttcttcag
     3421 caaatccaag acgaatatac aaaggatgag attagataaa gatttcagtt tcccgtatgc
     3481 caccgctgcc gccaattttc caaaaaagcc tggctcctct tttcctgttc ctccatccaa
     3541 gcccccaaag atctctaacc agaaataaac aggaagactc agtgatttac aaaagacatt
     3601 ttagttttac acgtacagaa aattctaccc agcattacag aattcttaga cttcttaaat
     3661 tcctgatttt ccttggtatt tacattttga taagggagcc aatggttctt caaacatttg
     3721 aaaagaacac atacacactg gacaatttca aacgatacaa acaaacgcaa ctgtccttct
     3781 ttctcattcc tgtccttcag ccacccagtt tcttctcccc tgagggaatc agttatcatt
     3841 tgctggtcat acttccagat tatactgtgc ctatgtaagt gtgtgtgtgt gtgtgtgtgt
     3901 gtgcactttt cattttttca aataaagtat tactcaactt tgtaa
//
LOCUS       NM_000354               2360 bp    mRNA    linear   PRI 22-JAN-2023
DEFINITION  Homo sapiens serpin family A member 7 (SERPINA7), mRNA.
ACCESSION   NM_000354
VERSION     NM_000354.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2360)
  AUTHORS   Heo J, Kim SM, Ryu HJ, Park H, Kim TH, Chung JH, Park HD and Kim SW.
  TITLE     Identification of Mutations in the Thyroxine-Binding Globulin (TBG)
            Gene in Patients with TBG Deficiency in Korea
  JOURNAL   Endocrinol Metab (Seoul) 37 (6), 870-878 (2022)
   PUBMED   36475360
  REMARK    GeneRIF: Identification of Mutations in the Thyroxine-Binding
            Globulin (TBG) Gene in Patients with TBG Deficiency in Korea.
REFERENCE   2  (bases 1 to 2360)
  AUTHORS   Gawandi S, Jothivel K and Kulkarni S.
  TITLE     Identification of a novel mutation in thyroxine-binding globulin
            (TBG) gene associated with TBG-deficiency and its effect on the
            thyroid function
  JOURNAL   J Endocrinol Invest 45 (4), 731-739 (2022)
   PUBMED   34761328
  REMARK    GeneRIF: Identification of a novel mutation in thyroxine-binding
            globulin (TBG) gene associated with TBG-deficiency and its effect on
            the thyroid function.
REFERENCE   3  (bases 1 to 2360)
  AUTHORS   Cao L, Lou X, Zhou L and Wu Y.
  TITLE     The decrease of T3 / T4 is not hypothyroidism - a new mutation of
            Serpina7 gene results in partial thyroglobulin deficiency
  JOURNAL   Pharmazie 76 (9), 428-430 (2021)
   PUBMED   34481533
  REMARK    GeneRIF: The decrease of T3 / T4 is not hypothyroidism - a new
            mutation of Serpina7 gene results in partial thyroglobulin
            deficiency.
REFERENCE   4  (bases 1 to 2360)
  AUTHORS   Fang Y, Chen H, Chen Q, Wang C and Liang L.
  TITLE     Compound hemizygous variants in SERPINA7 gene cause
            thyroxine-binding globulin deficiency
  JOURNAL   Mol Genet Genomic Med 9 (2), e1571 (2021)
   PUBMED   33554479
  REMARK    GeneRIF: Compound hemizygous variants in SERPINA7 gene cause
            thyroxine-binding globulin deficiency.
REFERENCE   5  (bases 1 to 2360)
  AUTHORS   Chen LD, Lu HJ, Gan YL, Pang SW, Zheng Q, Ye DM, Huang XY, Qi HN, Xu
            WB, Wen XZ, Li LH and Li L.
  TITLE     Partial thyroxine-binding globulin deficiency in a family with
            coding region mutations in the TBG gene
  JOURNAL   J Endocrinol Invest 43 (12), 1703-1710 (2020)
   PUBMED   32266677
  REMARK    GeneRIF: Partial thyroxine-binding globulin deficiency in a family
            with coding region mutations in the TBG gene.
REFERENCE   6  (bases 1 to 2360)
  AUTHORS   Shirotani T, Kishikawa H, Wake N, Miyamura N, Hashimoto Y, Motoyoshi
            S, Yamaguchi K and Shichiri M.
  TITLE     Thyroxine-binding globulin variant (TBG-Kumamoto): identification of
            a point mutation and genotype analysis of its family
  JOURNAL   Endocrinol Jpn 39 (6), 577-584 (1992)
   PUBMED   1294376
REFERENCE   7  (bases 1 to 2360)
  AUTHORS   Bertenshaw R, Sarne D, Tornari J, Weinberg M and Refetoff S.
  TITLE     Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego
            reveals two nucleotide substitutions
  JOURNAL   Biochim Biophys Acta 1139 (4), 307-310 (1992)
   PUBMED   1515456
REFERENCE   8  (bases 1 to 2360)
  AUTHORS   Imamura S, Mori Y, Murata Y, Yamamori I, Miura Y, Oiso Y, Seo H,
            Matsui N and Refetoff S.
  TITLE     Molecular cloning and primary structure of rat thyroxine-binding
            globulin
  JOURNAL   Biochemistry 30 (22), 5406-5411 (1991)
   PUBMED   1903654
REFERENCE   9  (bases 1 to 2360)
  AUTHORS   Bertenshaw R, Takeda K and Refetoff S.
  TITLE     Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec
            reveals two nucleotide substitutions
  JOURNAL   Am J Hum Genet 48 (4), 741-744 (1991)
   PUBMED   1901689
REFERENCE   10  (bases 1 to 2360)
  AUTHORS   Cheng,S.Y.
  TITLE     Partial amino acid sequence of human thyroxine-binding globulin.
            Further evidence for a single polypeptide chain
  JOURNAL   Biochem Biophys Res Commun 79 (4), 1212-1218 (1977)
   PUBMED   414747
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.119076.1,
            SRR5189664.65393.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2155590,
            SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000372563.2/ ENSP00000361644.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BJ996322.1, BC020747.2,
            T78892.1 and Z83850.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 24, 2018 this sequence version replaced NM_000354.5.
            Summary: There are three proteins including thyroxine-binding
            globulin (TBG), transthyretin and albumin responsible for carrying
            the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine
            (T3) in the bloodstream. This gene encodes the major thyroid
            hormone transport protein, TBG, in serum. It belongs to the serpin
            family in genomics, but the protein has no inhibitory function like
            many other members of the serpin family. Mutations in this gene
            result in TGB deficiency, which has been classified as partial
            deficiency, complete deficiency, and excess, based on the level of
            serum TBG. Alternatively spliced transcript variants encoding
            different isoforms have been found, but the full-length nature of
            these variants has not been determined.[provided by RefSeq, Jun
            2012].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2360
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.3"
     gene            1..2360
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="serpin family A member 7"
                     /db_xref="GeneID:6906"
                     /db_xref="HGNC:HGNC:11583"
                     /db_xref="MIM:314200"
     misc_feature    33..35
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="upstream in-frame stop codon"
     CDS             48..1295
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="thyroxin-binding globulin; serpin peptidase
                     inhibitor, clade A (alpha-1 antiproteinase, antitrypsin),
                     member 7; serine (or cysteine) proteinase inhibitor, clade
                     A (alpha-1 antiproteinase, antitrypsin), member 7;
                     thyroxine-binding globulin; serpin A7; T4-binding globulin;
                     mutant serpin family A member 7"
                     /codon_start=1
                     /product="thyroxine-binding globulin precursor"
                     /protein_id="NP_000345.2"
                     /db_xref="CCDS:CCDS14518.1"
                     /db_xref="GeneID:6906"
                     /db_xref="HGNC:HGNC:11583"
                     /db_xref="MIM:314200"
                     /translation="MSPFLYLVLLVLGLHATIHCASPEGKVTACHSSQPNATLYKMSSI
                     NADFAFNLYRRFTVETPDKNIFFSPVSISAALVMLSFGACCSTQTEIVETLGFNLTDTP
                     MVEIQHGFQHLICSLNFPKKELELQIGNALFIGKHLKPLAKFLNDVKTLYETEVFSTDF
                     SNISAAKQEINSHVEMQTKGKVVGLIQDLKPNTIMVLVNYIHFKAQWANPFDPSKTEDS
                     SSFLIDKTTTVQVPMMHQMEQYYHLVDMELNCTVLQMDYSKNALALFVLPKEGQMESVE
                     AAMSSKTLKKWNRLLQKGWVDLFVPKFSISATYDLGATLLKMGIQHAYSENADFSGLTE
                     DNGLKLSNAAHKAVLHIGEKGTEAAAVPEVELSDQPENTFLHPIIQIDRSFMLLILERS
                     TRSILFLGKVVNPTEA"
     sig_peptide     48..107
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     108..1292
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /product="thyroxine-binding globulin"
     misc_feature    153..155
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19838169; propagated from
                     UniProtKB/Swiss-Prot (P05543.2); glycosylation site"
     misc_feature    342..344
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P05543.2); glycosylation site"
     misc_feature    393..395
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="N-linked (GlcNAc...) asparagine, in variant Gary.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P05543.2); glycosylation site"
     misc_feature    540..542
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P05543.2); glycosylation site"
     misc_feature    804..806
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P05543.2); glycosylation site"
     regulatory      1343..1348
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="hexamer: AATAAA"
     regulatory      1354..1359
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="hexamer: AATATA"
     polyA_site      1365
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="major polyA site"
     polyA_site      1374
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="major polyA site"
     regulatory      1571..1576
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="hexamer: AATAAA"
     polyA_site      1594
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
     regulatory      2335..2340
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
                     /note="hexamer: AATAAA"
     polyA_site      2360
                     /gene="SERPINA7"
                     /gene_synonym="TBG; TBGQTL"
ORIGIN
        1 gagatgcagg tggattcttg ggcatttgct attaacttcc ttccaaaatg tcaccattcc
       61 tgtatctggt tctcttggta cttgggcttc atgctacaat ccactgtgca tcacctgaag
      121 gcaaagtaac agcctgccat tcatcccaac caaatgccac tctctacaag atgtcatcca
      181 ttaatgctga ctttgcattc aatctgtacc ggaggttcac tgtggagacc ccagataaga
      241 acatcttctt ttcccctgtg agcatttctg cagctttggt tatgctttcc tttggggcct
      301 gctgcagcac ccaaactgag attgtggaga ccttggggtt caacctcaca gacactccaa
      361 tggtagagat ccagcatggc ttccagcatc tgatctgttc actgaatttt ccaaagaagg
      421 aactggaatt gcagatagga aatgccctct tcattggcaa gcatctgaaa ccactggcaa
      481 agttcttgaa tgatgtcaag accctctatg agactgaagt cttttctacc gacttctcca
      541 acatttctgc agccaagcag gagattaaca gtcatgtgga gatgcaaacc aaagggaaag
      601 ttgtgggtct aattcaagac ctcaagccaa acaccatcat ggtcttagtg aactatattc
      661 actttaaagc ccagtgggca aatccttttg atccatccaa gacagaagac agttccagct
      721 tcttaataga caagaccacc actgttcaag tgcccatgat gcaccagatg gaacaatact
      781 atcacctagt ggatatggaa ttgaactgca cagttctgca aatggactac agcaagaatg
      841 ctctggcact ctttgttctt cccaaggagg gacagatgga gtcagtggaa gctgccatgt
      901 catctaaaac actgaagaag tggaaccgct tactacagaa gggatgggtt gacttgtttg
      961 ttccaaagtt ttccatttct gccacatatg accttggagc cacacttttg aagatgggca
     1021 ttcagcatgc ctattctgaa aatgctgatt tttctggact cacagaggac aatggtctga
     1081 aactttccaa tgctgcccat aaggctgtgc tgcacattgg tgaaaaggga actgaagctg
     1141 cagctgtccc tgaagttgaa ctttcggatc agcctgaaaa cactttccta caccctatta
     1201 tccaaattga tagatctttc atgttgttga ttttggagag aagcacaagg agtattctct
     1261 ttctagggaa agttgtgaac ccaacggaag cgtagttggg aaaaaggcca ttggctaatt
     1321 gcacgtgtgt attgcaatgg gaaataaata aataatatag cctggtgtga ttgatgtgag
     1381 cttggacttg cattccctta tgatgggatg aagattgaac cctggctgaa ctttgttggc
     1441 tgtggaagag gccaatccta tggcagagca ttcagaatgt caatgagtaa ttcattatta
     1501 tccaaagcat aggaaggctc tatgtttgta tatttctctt tgtcagaata cccctcaact
     1561 catttgctct aataaatttg actgggttga aaaattttcc cttttctgtc ttctggggaa
     1621 tagctaaaaa gcaggtcagg tcttcgtatc ccagtactcc aataagatca atggacataa
     1681 aacaatgcag atgcattgtc ttatatgtga acttctcaac ccccttccca ctgtcccatt
     1741 agtaggattc tctgagttct tgccagatct gacactggta ggttgaataa aggaactccc
     1801 actatgggga tgagttacag actgagacaa ctgaacaagt tactgaacaa gcatgggaca
     1861 atacagcaag agataaactt gcctgtccaa ccccaccttc cccccaagaa aacatacttc
     1921 caccttgcca atgtataagc tgggagtgga gaaagaaagt aattcattca tgtcatatct
     1981 catagaccct ctttttctgt atcccaatca gactcctttc catatatagc acccctgtcc
     2041 cacttgttta agtaggaatc tcctttttgg ctctaatttc actgaatatt ggtacttttg
     2101 tatccccaga tccttcaaca accttccctc tacctgtaca tgccaactca ttaccaccta
     2161 ccaaactaga ttttatttca gacactatgt atttaaagct tgagtataaa tggcacagtg
     2221 agtggtaatg atgtagtatc tgaaattcta gccctgaggt aaaacacttc agtgacagga
     2281 aaatagtaaa aaaaatgcat aagtactgtt gcagatgttg tacttccata ttgaaataaa
     2341 tatttatgtt tagaaaagca
//
LOCUS       NM_000355               2192 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens transcobalamin 2 (TCN2), transcript variant 1, mRNA.
ACCESSION   NM_000355
VERSION     NM_000355.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2192)
  AUTHORS   Kwon BN, Lee NR, Kim HJ, Kang YD, Kim JS, Park JW and Jin HJ.
  TITLE     Folate metabolizing gene polymorphisms and genetic vulnerability to
            preterm birth in Korean women
  JOURNAL   Genes Genomics 43 (8), 937-945 (2021)
   PUBMED   34027569
  REMARK    GeneRIF: Folate metabolizing gene polymorphisms and genetic
            vulnerability to preterm birth in Korean women.
REFERENCE   2  (bases 1 to 2192)
  AUTHORS   Liu J, Jiang Y, Liu D, Zhang H, Chen T, Zhang G, Liu H, DU S, Lin Z,
            Jin Y and Li X.
  TITLE     Relationship between cobalt transporter II gene rs9606756 site
            mutant and serum homocysteine level and recurrent cerebral
            infarction in young and middle-aged people
  JOURNAL   Minerva Med 112 (2), 261-268 (2021)
   PUBMED   32207595
  REMARK    GeneRIF: Relationship between cobalt transporter II gene rs9606756
            site mutant and serum homocysteine level and recurrent cerebral
            infarction in young and middle-aged people.
REFERENCE   3  (bases 1 to 2192)
  AUTHORS   Boachie J, Adaikalakoteswari A, Goljan I, Samavat J, Cagampang FR
            and Saravanan P.
  TITLE     Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are
            Modulated by CD320 Receptor and TCN2 Transporter
  JOURNAL   Int J Mol Sci 22 (6), 3089 (2021)
   PUBMED   33803025
  REMARK    GeneRIF: Intracellular and Tissue Levels of Vitamin B12 in
            Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2192)
  AUTHORS   Kose E, Besci O, Gudeloglu E, Suncak S, Oymak Y, Ozen S and Isguder
            R.
  TITLE     Transcobalamin II deficiency in twins with a novel variant in the
            TCN2 gene: case report and review of literature
  JOURNAL   J Pediatr Endocrinol Metab 33 (11), 1487-1499 (2020)
   PUBMED   32841161
  REMARK    GeneRIF: Transcobalamin II deficiency in twins with a novel variant
            in the TCN2 gene: case report and review of literature. Review
            article
REFERENCE   5  (bases 1 to 2192)
  AUTHORS   Ahn TK, Kim JO, An HJ, Park HS, Choi UY, Sohn S, Kim KT, Kim NK and
            Han IB.
  TITLE     3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with
            Osteoporosis and Osteoporotic Vertebral Compression Fractures
            (OVCFs) in Postmenopausal Women
  JOURNAL   Genes (Basel) 11 (6), 612 (2020)
   PUBMED   32498429
  REMARK    GeneRIF: 3'-UTR Polymorphisms of Vitamin B-Related Genes Are
            Associated with Osteoporosis and Osteoporotic Vertebral Compression
            Fractures (OVCFs) in Postmenopausal Women. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 2192)
  AUTHORS   Platica O, Janeczko R, Quadros EV, Regec A, Romain R and Rothenberg
            SP.
  TITLE     The cDNA sequence and the deduced amino acid sequence of human
            transcobalamin II show homology with rat intrinsic factor and human
            transcobalamin I
  JOURNAL   J Biol Chem 266 (12), 7860-7863 (1991)
   PUBMED   1708393
REFERENCE   7  (bases 1 to 2192)
  AUTHORS   Barshop BA, Wolff J, Nyhan WL, Yu A, Prodanos C, Jones G, Sweetman
            L, Leslie J, Holm J, Green R et al.
  TITLE     Transcobalamin II deficiency presenting with methylmalonic aciduria
            and homocystinuria and abnormal absorption of cobalamin
  JOURNAL   Am J Med Genet 35 (2), 222-228 (1990)
   PUBMED   2309761
REFERENCE   8  (bases 1 to 2192)
  AUTHORS   Arwert,F., Porck,H.J., Frater-Schroder,M., Brahe,C., Geurts van
            Kessel,A., Westerveld,A., Meera Khan,P., Zang,K., Frants,R.R.,
            Kortbeek,H.T. et al.
  TITLE     Assignment of human transcobalamin II (TC2) to chromosome 22 using
            somatic cell hybrids and monosomic meningioma cells
  JOURNAL   Hum Genet 74 (4), 378-381 (1986)
   PUBMED   3466852
REFERENCE   9  (bases 1 to 2192)
  AUTHORS   Eiberg,H., Moller,N., Mohr,J. and Nielsen,L.S.
  TITLE     Linkage of transcobalamin II (TC2) to the P blood group system and
            assignment to chromosome 22
  JOURNAL   Clin Genet 29 (5), 354-359 (1986)
   PUBMED   3461892
REFERENCE   10  (bases 1 to 2192)
  AUTHORS   Daiger,S.P., Labowe,M.L., Parsons,M., Wang,L. and
            Cavalli-Sforza,L.L.
  TITLE     Detection of genetic variation with radioactive ligands. III.
            genetic polymorphism of transcobalamin II in human plasma
  JOURNAL   Am J Hum Genet 30 (2), 202-214 (1978)
   PUBMED   655167
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.24728.1,
            SRR1803612.232228.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000215838.8/ ENSP00000215838.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005006.2 and BC001176.1.
            On May 17, 2019 this sequence version replaced NM_000355.3.
            Summary: This gene encodes a member of the vitamin B12-binding
            protein family. This family of proteins, alternatively referred to
            as R binders, is expressed in various tissues and secretions. This
            plasma protein binds cobalamin and mediates the transport of
            cobalamin into cells. This protein and other mammalian
            cobalamin-binding proteins, such as transcobalamin I and gastric
            intrisic factor, may have evolved by duplication of a common
            ancestral gene. Alternative splicing results in multiple transcript
            variants.[provided by RefSeq, May 2010].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2192
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..2192
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /note="transcobalamin 2"
                     /db_xref="GeneID:6948"
                     /db_xref="HGNC:HGNC:11653"
                     /db_xref="MIM:613441"
     misc_feature    42..44
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /note="upstream in-frame stop codon"
     CDS             159..1442
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; macrocytic anemia; transcobalamin II; macrocytic anemia;
                     vitamin B12-binding protein 2"
                     /codon_start=1
                     /product="transcobalamin-2 isoform 1 precursor"
                     /protein_id="NP_000346.2"
                     /db_xref="CCDS:CCDS13881.1"
                     /db_xref="GeneID:6948"
                     /db_xref="HGNC:HGNC:11653"
                     /db_xref="MIM:613441"
                     /translation="MRHLGAFLFLLGVLGALTEMCEIPEMDSHLVEKLGQHLLPWMDRL
                     SLEHLNPSIYVGLRLSSLQAGTKEDLYLHSLKLGYQQCLLGSAFSEDDGDCQGKPSMGQ
                     LALYLLALRANCEFVRGHKGDRLVSQLKWFLEDEKRAIGHDHKGHPHTSYYQYGLGILA
                     LCLHQKRVHDSVVDKLLYAVEPFHQGHHSVDTAAMAGLAFTCLKRSNFNPGRRQRITMA
                     IRTVREEILKAQTPEGHFGNVYSTPLALQFLMTSPMRGAELGTACLKARVALLASLQDG
                     AFQNALMISQLLPVLNHKTYIDLIFPDCLAPRVMLEPAAETIPQTQEIISVTLQVLSLL
                     PPYRQSISVLAGSTVEDVLKKAHELGGFTYETQASLSGPYLTSVMGKAAGEREFWQLLR
                     DPNTPLLQGIADYRPKDGETIELRLVSW"
     sig_peptide     159..212
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     213..1439
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /product="transcobalamin-2 isoform 1"
     regulatory      1953..1958
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /note="hexamer: ATTAAA"
     polyA_site      1981
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
                     /note="major polyA site"
     polyA_site      2192
                     /gene="TCN2"
                     /gene_synonym="D22S676; D22S750; II; TC; TC II; TC-2; TC2;
                     TCII"
ORIGIN
        1 gcagacttag ccgtgcattg caggcatgga ggattaatca gtgacaggaa gctgcgtctc
       61 tcggagcggt gaccagctgt ggtcaggaga gcctcagcag ggccagcccc aggagtcttt
      121 cccgattctt gctcactgct cacccacctg ctgctgccat gaggcacctt ggggccttcc
      181 tcttccttct gggggtcctg ggggccctca ctgagatgtg tgaaatacca gagatggaca
      241 gccatctggt agagaagttg ggccagcacc tcttaccttg gatggaccgg ctttccctgg
      301 agcacttgaa ccccagcatc tatgtgggcc tacgcctctc cagtctgcag gctgggacca
      361 aggaagacct ctacctgcac agcctcaagc ttggttacca gcagtgcctc ctagggtctg
      421 ccttcagcga ggatgacggt gactgccagg gcaagccttc catgggccag ctggccctct
      481 acctgctcgc tctcagagcc aactgtgagt ttgtcagggg ccacaagggg gacaggctgg
      541 tctcacagct caaatggttc ctggaggatg agaagagagc cattgggcat gatcacaagg
      601 gccaccccca cactagctac taccagtatg gcctgggcat tctggccctg tgtctccacc
      661 agaagcgggt ccatgacagc gtggtggaca aacttctgta tgctgtggaa cctttccacc
      721 agggccacca ttctgtggac acagcagcca tggcaggctt ggcattcacc tgtctgaagc
      781 gctcaaactt caaccctggt cggagacaac ggatcaccat ggccatcaga acagtgcgag
      841 aggagatctt gaaggcccag acccccgagg gccactttgg gaatgtctac agcaccccat
      901 tggcattaca gttcctcatg acttccccca tgcgtggggc agaactggga acagcatgtc
      961 tcaaggcgag ggttgctttg ctggccagtc tgcaggatgg agccttccag aatgctctca
     1021 tgatttccca gctgctgccc gttctgaacc acaagaccta cattgatctg atcttcccag
     1081 actgtctggc accacgagtc atgttggaac cagctgctga gaccattcct cagacccaag
     1141 agatcatcag tgtcacgctg caggtgctta gtctcttgcc gccgtacaga cagtccatct
     1201 ctgttctggc cgggtccacc gtggaagatg tcctgaagaa ggcccatgag ttaggaggat
     1261 tcacatatga aacacaggcc tccttgtcag gcccctactt aacctccgtg atggggaaag
     1321 cggccggaga aagggagttc tggcagcttc tccgagaccc caacacccca ctgttgcaag
     1381 gtattgctga ctacagaccc aaggatggag aaaccattga gctgaggctg gttagctggt
     1441 agcccctgag ctccctcatc ccagcagcct cgcacactcc ctaggcttct accctccctc
     1501 ctgatgtccc tggaacagga actcgcctga ccctgctgcc acctcctgtg cactttgagc
     1561 aatgccccct gggatcaccc cagccacaag cccttcgagg gccctatacc atggcccacc
     1621 ttggagcaga gagccaagca tcttccctgg gaagtctttc tggccaagtc tggccagcct
     1681 ggccctgcag gtctcccatg aaggccaccc catggtctga tgggcatgaa gcatctcaga
     1741 ctccttggca aaaaacggag tccgcaggcc gcaggtgttg tgaagaccac tcgttctgtg
     1801 gttggggtcc tgcaagaagg cctcctcagc ccgggggcta tggccctgac cccagctctc
     1861 cactctgctg ttagagtggc agctccgagc tggttgtggc acagtagctg gggagacctc
     1921 agcagggctg ctcagtgcct gcctctgaca aaattaaagc attgatggcc tgtggacctg
     1981 ctacagtggc ctggtgcctc atactcctca ggtgcagggg cagggacaag agaaggggga
     2041 agtaacccca tcagggagga gtggagggtg cctgagccgc catgtgggca ttgggggagt
     2101 gatgggaatg ccagcagtga tgacattgac tactgactga gcacccacta ctatgactga
     2161 gcactcactc gctagatact atcttgaact gc
//
LOCUS       NM_000358               2712 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens transforming growth factor beta induced (TGFBI), mRNA.
ACCESSION   NM_000358
VERSION     NM_000358.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2712)
  AUTHORS   Jaakkola AM and Kivela TT.
  TITLE     Clinical and Histopathologic Characteristics and Template of the
            TGFBI p.(His626Arg) Missense Variant Lattice Corneal Dystrophy
  JOURNAL   Cornea 42 (9), 1124-1132 (2023)
   PUBMED   36796020
  REMARK    GeneRIF: Clinical and Histopathologic Characteristics and Template
            of the TGFBI p.(His626Arg) Missense Variant Lattice Corneal
            Dystrophy.
REFERENCE   2  (bases 1 to 2712)
  AUTHORS   Zhang S, Zhang W, Wu B, Xia L, Li L, Jin K, Zou Y and Sun C.
  TITLE     Hub gene target of glioblastoma: LOX, SERPINH1 and TGFBI
  JOURNAL   Medicine (Baltimore) 101 (45), e31418 (2022)
   PUBMED   36397358
  REMARK    GeneRIF: Hub gene target of glioblastoma: LOX, SERPINH1 and TGFBI.
REFERENCE   3  (bases 1 to 2712)
  AUTHORS   Kraemer BF, Martinovic I and Lindemann S.
  TITLE     Human platelets release TGFBIp in acute myocardial infarction
  JOURNAL   Heart Vessels 37 (11), 1962-1970 (2022)
   PUBMED   35545686
  REMARK    GeneRIF: Human platelets release TGFBIp in acute myocardial
            infarction.
REFERENCE   4  (bases 1 to 2712)
  AUTHORS   Jozaei R, Javadi MA, Safari I, Moghaddasi A, Feizi S, Kanavi MR,
            Najafi S, Safdari B, Salahshourifar I, Elahi E and Suri F.
  TITLE     Genetic screening of TGFBI in Iranian patients with TGFBI-associated
            corneal dystrophies and a meta-analysis of global variation
            frequencies
  JOURNAL   Ophthalmic Genet 43 (4), 496-499 (2022)
   PUBMED   35473478
  REMARK    GeneRIF: Genetic screening of TGFBI in Iranian patients with
            TGFBI-associated corneal dystrophies and a meta-analysis of global
            variation frequencies.
REFERENCE   5  (bases 1 to 2712)
  AUTHORS   Peng P, Zhu H, Liu D, Chen Z, Zhang X, Guo Z, Dong M, Wan L, Zhang
            P, Liu G, Zhang S, Dong F, Hu F, Cheng F, Huang S, Guo D, Zhang B,
            Yu X and Wan F.
  TITLE     TGFBI secreted by tumor-associated macrophages promotes glioblastoma
            stem cell-driven tumor growth via integrin alphavbeta5-Src-Stat3
            signaling
  JOURNAL   Theranostics 12 (9), 4221-4236 (2022)
   PUBMED   35673564
  REMARK    GeneRIF: TGFBI secreted by tumor-associated macrophages promotes
            glioblastoma stem cell-driven tumor growth via integrin
            alphavbeta5-Src-Stat3 signaling. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2712)
  AUTHORS   LeBaron RG, Bezverkov KI, Zimber MP, Pavelec R, Skonier J and
            Purchio AF.
  TITLE     Beta IG-H3, a novel secretory protein inducible by transforming
            growth factor-beta, is present in normal skin and promotes the
            adhesion and spreading of dermal fibroblasts in vitro
  JOURNAL   J Invest Dermatol 104 (5), 844-849 (1995)
   PUBMED   7738366
REFERENCE   7  (bases 1 to 2712)
  AUTHORS   Escribano J, Hernando N, Ghosh S, Crabb J and Coca-Prados M.
  TITLE     cDNA from human ocular ciliary epithelium homologous to beta ig-h3
            is preferentially expressed as an extracellular protein in the
            corneal epithelium
  JOURNAL   J Cell Physiol 160 (3), 511-521 (1994)
   PUBMED   8077289
REFERENCE   8  (bases 1 to 2712)
  AUTHORS   Skonier J, Bennett K, Rothwell V, Kosowski S, Plowman G, Wallace P,
            Edelhoff S, Disteche C, Neubauer M, Marquardt H et al.
  TITLE     beta ig-h3: a transforming growth factor-beta-responsive gene
            encoding a secreted protein that inhibits cell attachment in vitro
            and suppresses the growth of CHO cells in nude mice
  JOURNAL   DNA Cell Biol 13 (6), 571-584 (1994)
   PUBMED   8024701
REFERENCE   9  (bases 1 to 2712)
  AUTHORS   Stone EM, Mathers WD, Rosenwasser GO, Holland EJ, Folberg R,
            Krachmer JH, Nichols BE, Gorevic PD, Taylor CM, Streb LM et al.
  TITLE     Three autosomal dominant corneal dystrophies map to chromosome 5q
  JOURNAL   Nat Genet 6 (1), 47-51 (1994)
   PUBMED   8136834
REFERENCE   10  (bases 1 to 2712)
  AUTHORS   Skonier J, Neubauer M, Madisen L, Bennett K, Plowman GD and Purchio
            AF.
  TITLE     cDNA cloning and sequence analysis of beta ig-h3, a novel gene
            induced in a human adenocarcinoma cell line after treatment with
            transforming growth factor-beta
  JOURNAL   DNA Cell Biol 11 (7), 511-522 (1992)
   PUBMED   1388724
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC000097.2, AK094581.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000442011.7/ ENSP00000416330.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA051240.1, BC000097.2 and
            M77349.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000358.2.
            Summary: This gene encodes an RGD-containing protein that binds to
            type I, II and IV collagens. The RGD motif is found in many
            extracellular matrix proteins modulating cell adhesion and serves
            as a ligand recognition sequence for several integrins. This
            protein plays a role in cell-collagen interactions and may be
            involved in endochondrial bone formation in cartilage. The protein
            is induced by transforming growth factor-beta and acts to inhibit
            cell adhesion. Mutations in this gene are associated with multiple
            types of corneal dystrophy. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2712
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..2712
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /note="transforming growth factor beta induced"
                     /db_xref="GeneID:7045"
                     /db_xref="HGNC:HGNC:11771"
                     /db_xref="MIM:601692"
     misc_feature    39..41
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /note="upstream in-frame stop codon"
     CDS             69..2120
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /note="transforming growth factor-beta-induced protein
                     ig-h3; betaig-h3; RGD-containing collagen-associated
                     protein; kerato-epithelin; RGD-CAP; beta ig-h3;
                     transforming growth factor, beta-induced, 68kD;
                     transforming growth factor beta-induced 68kDa"
                     /codon_start=1
                     /product="transforming growth factor-beta-induced protein
                     ig-h3 precursor"
                     /protein_id="NP_000349.1"
                     /db_xref="CCDS:CCDS47266.1"
                     /db_xref="GeneID:7045"
                     /db_xref="HGNC:HGNC:11771"
                     /db_xref="MIM:601692"
                     /translation="MALFVRLLALALALALGPAATLAGPAKSPYQLVLQHSRLRGRQHG
                     PNVCAVQKVIGTNRKYFTNCKQWYQRKICGKSTVISYECCPGYEKVPGEKGCPAALPLS
                     NLYETLGVVGSTTTQLYTDRTEKLRPEMEGPGSFTIFAPSNEAWASLPAEVLDSLVSNV
                     NIELLNALRYHMVGRRVLTDELKHGMTLTSMYQNSNIQIHHYPNGIVTVNCARLLKADH
                     HATNGVVHLIDKVISTITNNIQQIIEIEDTFETLRAAVAASGLNTMLEGNGQYTLLAPT
                     NEAFEKIPSETLNRILGDPEALRDLLNNHILKSAMCAEAIVAGLSVETLEGTTLEVGCS
                     GDMLTINGKAIISNKDILATNGVIHYIDELLIPDSAKTLFELAAESDVSTAIDLFRQAG
                     LGNHLSGSERLTLLAPLNSVFKDGTPPIDAHTRNLLRNHIIKDQLASKYLYHGQTLETL
                     GGKKLRVFVYRNSLCIENSCIAAHDKRGRYGTLFTMDRVLTPPMGTVMDVLKGDNRFSM
                     LVAAIQSAGLTETLNREGVYTVFAPTNEAFRALPPRERSRLLGDAKELANILKYHIGDE
                     ILVSGGIGALVRLKSLQGDKLEVSLKNNVVSVNKEPVAEPDIMATNGVVHVITNVLQPP
                     ANRPQERGDELADSALEIFKQASAFSRASQRSVRLAPVYQKLLERMKH"
     sig_peptide     69..137
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     138..2117
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /product="transforming growth factor-beta-induced protein
                     ig-h3"
     misc_feature    177..179
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q15582.1); phosphorylation site"
     misc_feature    1992..2000
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15582.1);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     regulatory      2693..2698
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /note="hexamer: AATAAA"
     polyA_site      2712
                     /gene="TGFBI"
                     /gene_synonym="BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2;
                     CSD3; EBMD; LCD1"
                     /note="major polyA site"
ORIGIN
        1 ctcacttccc tggagccgcc cgcttgcccg tcggtcgcta gctcgctcgg tgcgcgtcgt
       61 cccgctccat ggcgctcttc gtgcggctgc tggctctcgc cctggctctg gccctgggcc
      121 ccgccgcgac cctggcgggt cccgccaagt cgccctacca gctggtgctg cagcacagca
      181 ggctccgggg ccgccagcac ggccccaacg tgtgtgctgt gcagaaggtt attggcacta
      241 ataggaagta cttcaccaac tgcaagcagt ggtaccaaag gaaaatctgt ggcaaatcaa
      301 cagtcatcag ctacgagtgc tgtcctggat atgaaaaggt ccctggggag aagggctgtc
      361 cagcagccct accactctca aacctttacg agaccctggg agtcgttgga tccaccacca
      421 ctcagctgta cacggaccgc acggagaagc tgaggcctga gatggagggg cccggcagct
      481 tcaccatctt cgcccctagc aacgaggcct gggcctcctt gccagctgaa gtgctggact
      541 ccctggtcag caatgtcaac attgagctgc tcaatgccct ccgctaccat atggtgggca
      601 ggcgagtcct gactgatgag ctgaaacacg gcatgaccct cacctctatg taccagaatt
      661 ccaacatcca gatccaccac tatcctaatg ggattgtaac tgtgaactgt gcccggctgc
      721 tgaaagccga ccaccatgca accaacgggg tggtgcacct catcgataag gtcatctcca
      781 ccatcaccaa caacatccag cagatcattg agatcgagga cacctttgag acccttcggg
      841 ctgctgtggc tgcatcaggg ctcaacacga tgcttgaagg taacggccag tacacgcttt
      901 tggccccgac caatgaggcc ttcgagaaga tccctagtga gactttgaac cgtatcctgg
      961 gcgacccaga agccctgaga gacctgctga acaaccacat cttgaagtca gctatgtgtg
     1021 ctgaagccat cgttgcgggg ctgtctgtag agaccctgga gggcacgaca ctggaggtgg
     1081 gctgcagcgg ggacatgctc actatcaacg ggaaggcgat catctccaat aaagacatcc
     1141 tagccaccaa cggggtgatc cactacattg atgagctact catcccagac tcagccaaga
     1201 cactatttga attggctgca gagtctgatg tgtccacagc cattgacctt ttcagacaag
     1261 ccggcctcgg caatcatctc tctggaagtg agcggttgac cctcctggct cccctgaatt
     1321 ctgtattcaa agatggaacc cctccaattg atgcccatac aaggaatttg cttcggaacc
     1381 acataattaa agaccagctg gcctctaagt atctgtacca tggacagacc ctggaaactc
     1441 tgggcggcaa aaaactgaga gtttttgttt atcgtaatag cctctgcatt gagaacagct
     1501 gcatcgcggc ccacgacaag agggggaggt acgggaccct gttcacgatg gaccgggtgc
     1561 tgaccccccc aatggggact gtcatggatg tcctgaaggg agacaatcgc tttagcatgc
     1621 tggtagctgc catccagtct gcaggactga cggagaccct caaccgggaa ggagtctaca
     1681 cagtctttgc tcccacaaat gaagccttcc gagccctgcc accaagagaa cggagcagac
     1741 tcttgggaga tgccaaggaa cttgccaaca tcctgaaata ccacattggt gatgaaatcc
     1801 tggttagcgg aggcatcggg gccctggtgc ggctaaagtc tctccaaggt gacaagctgg
     1861 aagtcagctt gaaaaacaat gtggtgagtg tcaacaagga gcctgttgcc gagcctgaca
     1921 tcatggccac aaatggcgtg gtccatgtca tcaccaatgt tctgcagcct ccagccaaca
     1981 gacctcagga aagaggggat gaacttgcag actctgcgct tgagatcttc aaacaagcat
     2041 cagcgttttc cagggcttcc cagaggtctg tgcgactagc ccctgtctat caaaagttat
     2101 tagagaggat gaagcattag cttgaagcac tacaggagga atgcaccacg gcagctctcc
     2161 gccaatttct ctcagatttc cacagagact gtttgaatgt tttcaaaacc aagtatcaca
     2221 ctttaatgta catgggccgc accataatga gatgtgagcc ttgtgcatgt gggggaggag
     2281 ggagagagat gtacttttta aatcatgttc cccctaaaca tggctgttaa cccactgcat
     2341 gcagaaactt ggatgtcact gcctgacatt cacttccaga gaggacctat cccaaatgtg
     2401 gaattgactg cctatgccaa gtccctggaa aaggagcttc agtattgtgg ggctcataaa
     2461 acatgaatca agcaatccag cctcatggga agtcctggca cagtttttgt aaagcccttg
     2521 cacagctgga gaaatggcat cattataagc tatgagttga aatgttctgt caaatgtgtc
     2581 tcacatctac acgtggcttg gaggctttta tggggccctg tccaggtaga aaagaaatgg
     2641 tatgtagagc ttagatttcc ctattgtgac agagccatgg tgtgtttgta ataataaaac
     2701 caaagaaaca ta
//
LOCUS       NM_000359               2744 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens transglutaminase 1 (TGM1), mRNA.
ACCESSION   NM_000359
VERSION     NM_000359.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2744)
  AUTHORS   Macriz-Romero N, Vera-Duarte GR, Guerrero-Becerril J, Chacon-Camacho
            OF, Astiazaran MC, Zenteno JC and Graue-Hernandez EO.
  TITLE     Ophthalmic findings in patients with autosomal recessive lamellar
            ichthyosis due to TGM1 mutations in an isolated population
  JOURNAL   Int Ophthalmol 43 (10), 3659-3665 (2023)
   PUBMED   37542530
  REMARK    GeneRIF: Ophthalmic findings in patients with autosomal recessive
            lamellar ichthyosis due to TGM1 mutations in an isolated population.
REFERENCE   2  (bases 1 to 2744)
  AUTHORS   Khan N, Shah K, Fozia F, Khan SA, Muhammad N, Nasir A, Ahmad I,
            Rehman ZU, Jan A, Muhammad N and Khan S.
  TITLE     Biallelic mutations in FLG, TGM1, and STS genes segregated with
            different types of ichthyoses in eight families of Pakistani origin
  JOURNAL   Int J Dermatol 62 (5), 672-680 (2023)
   PUBMED   36789964
  REMARK    GeneRIF: Biallelic mutations in FLG, TGM1, and STS genes segregated
            with different types of ichthyoses in eight families of Pakistani
            origin.
REFERENCE   3  (bases 1 to 2744)
  AUTHORS   Almazroea A, Ijaz A, Aziz A, Mushtaq Yasinzai M, Rafiullah R, Rehman
            FU, Daud S, Shaikh R, Ayub M and Wali A.
  TITLE     Identification and In Silico Analysis of a Homozygous Nonsense
            Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a
            Consanguineous Family
  JOURNAL   Medicina (Kaunas) 59 (1), 103 (2023)
   PUBMED   36676727
  REMARK    GeneRIF: Identification and In Silico Analysis of a Homozygous
            Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis
            in a Consanguineous Family. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2744)
  AUTHORS   Sonoyama T, Ishino T, Takemoto K, Yamato K, Oda T, Nishida M, Horibe
            Y, Chikuie N, Kono T, Taruya T, Hamamoto T, Ueda T and Takeno S.
  TITLE     Deep Association between Transglutaminase 1 and Tissue Eosinophil
            Infiltration Leading to Nasal Polyp Formation and/or Maintenance
            with Fibrin Polymerization in Chronic Rhinosinusitis with Nasal
            Polyps
  JOURNAL   Int J Mol Sci 23 (21), 12955 (2022)
   PUBMED   36361742
  REMARK    GeneRIF: Deep Association between Transglutaminase 1 and Tissue
            Eosinophil Infiltration Leading to Nasal Polyp Formation and/or
            Maintenance with Fibrin Polymerization in Chronic Rhinosinusitis
            with Nasal Polyps. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2744)
  AUTHORS   Landegren N, Ishii N, Aranda-Guillen M, Gunnarsson HI, Sardh F,
            Hallgren A, Stahle M, Hagforsen E, Bradley M, Edqvist PD, Ponten F,
            Makitie O, Eidsmo L, Norlen L, Achour A, Dahlbom I, Korponay-Szabo
            I, Agardh D, Alimohammadi M, Eriksson D, Hashimoto T and Kampe O.
  TITLE     A gene-centric approach to biomarker discovery identifies
            transglutaminase 1 as an epidermal autoantigen
  JOURNAL   Proc Natl Acad Sci U S A 118 (51) (2021)
   PUBMED   34911754
  REMARK    GeneRIF: A gene-centric approach to biomarker discovery identifies
            transglutaminase 1 as an epidermal autoantigen.
REFERENCE   6  (bases 1 to 2744)
  AUTHORS   Richard,G.
  TITLE     Autosomal Recessive Congenital Ichthyosis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301593
REFERENCE   7  (bases 1 to 2744)
  AUTHORS   Schroeder WT, Thacher SM, Stewart-Galetka S, Annarella M, Chema D,
            Siciliano MJ, Davies PJ, Tang HY, Sowa BA and Duvic M.
  TITLE     Type I keratinocyte transglutaminase: expression in human skin and
            psoriasis
  JOURNAL   J Invest Dermatol 99 (1), 27-34 (1992)
   PUBMED   1351505
REFERENCE   8  (bases 1 to 2744)
  AUTHORS   Polakowska RR, Eickbush T, Falciano V, Razvi F and Goldsmith LA.
  TITLE     Organization and evolution of the human epidermal keratinocyte
            transglutaminase I gene
  JOURNAL   Proc Natl Acad Sci U S A 89 (10), 4476-4480 (1992)
   PUBMED   1350092
REFERENCE   9  (bases 1 to 2744)
  AUTHORS   Kim IG, McBride OW, Wang M, Kim SY, Idler WW and Steinert PM.
  TITLE     Structure and organization of the human transglutaminase 1 gene
  JOURNAL   J Biol Chem 267 (11), 7710-7717 (1992)
   PUBMED   1348508
REFERENCE   10  (bases 1 to 2744)
  AUTHORS   Phillips MA, Stewart BE and Rice RH.
  TITLE     Genomic structure of keratinocyte transglutaminase. Recruitment of
            new exon for modified function
  JOURNAL   J Biol Chem 267 (4), 2282-2286 (1992)
   PUBMED   1346394
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC034699.1, AK315819.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000206765.11/ ENSP00000206765.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL096870.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000359.2.
            Summary: The protein encoded by this gene is a membrane protein
            that catalyzes the addition of an alkyl group from an akylamine to
            a glutamine residue of a protein, forming an alkylglutamine in the
            protein. This protein alkylation leads to crosslinking of proteins
            and catenation of polyamines to proteins. This gene contains either
            one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations
            in this gene have been associated with autosomal recessive lamellar
            ichthyosis (LI) and nonbullous congenital ichthyosiform
            erythroderma (NCIE). [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2744
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     gene            1..2744
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="transglutaminase 1"
                     /db_xref="GeneID:7051"
                     /db_xref="HGNC:HGNC:11777"
                     /db_xref="MIM:190195"
     misc_feature    32..34
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="upstream in-frame stop codon"
     CDS             92..2545
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /EC_number="2.3.2.13"
                     /note="transglutaminase K; TGase K; epidermal TGase;
                     transglutaminase, keratinocyte; TG(K); TGase-1; K
                     polypeptide epidermal type I,
                     protein-glutamine-gamma-glutamyltransferase"
                     /codon_start=1
                     /product="protein-glutamine gamma-glutamyltransferase K"
                     /protein_id="NP_000350.1"
                     /db_xref="CCDS:CCDS9622.1"
                     /db_xref="GeneID:7051"
                     /db_xref="HGNC:HGNC:11777"
                     /db_xref="MIM:190195"
                     /translation="MMDGPRSDVGRWGGNPLQPPTTPSPEPEPEPDGRSRRGGGRSFWA
                     RCCGCCSCRNAADDDWGPEPSDSRGRGSSSGTRRPGSRGSDSRRPVSRGSGVNAAGDGT
                     IREGMLVVNGVDLLSSRSDQNRREHHTDEYEYDELIVRRGQPFHMLLLLSRTYESSDRI
                     TLELLIGNNPEVGKGTHVIIPVGKGGSGGWKAQVVKASGQNLNLRVHTSPNAIIGKFQF
                     TVRTQSDAGEFQLPFDPRNEIYILFNPWCPEDIVYVDHEDWRQEYVLNESGRIYYGTEA
                     QIGERTWNYGQFDHGVLDACLYILDRRGMPYGGRGDPVNVSRVISAMVNSLDDNGVLIG
                     NWSGDYSRGTNPSAWVGSVEILLSYLRTGYSVPYGQCWVFAGVTTTVLRCLGLATRTVT
                     NFNSAHDTDTSLTMDIYFDENMKPLEHLNHDSVWNFHVWNDCWMKRPDLPSGFDGWQVV
                     DATPQETSSGIFCCGPCSVESIKNGLVYMKYDTPFIFAEVNSDKVYWQRQDDGSFKIVY
                     VEEKAIGTLIVTKAISSNMREDITYLYKHPEGSDAERKAVETAAAHGSKPNVYANRGSA
                     EDVAMQVEAQDAVMGQDLMVSVMLINHSSSRRTVKLHLYLSVTFYTGVSGTIFKETKKE
                     VELAPGASDRVTMPVAYKEYRPHLVDQGAMLLNVSGHVKESGQVLAKQHTFRLRTPDLS
                     LTLLGAAVVGQECEVQIVFKNPLPVTLTNVVFRLEGSGLQRPKILNVGDIGGNETVTLR
                     QSFVPVRPGPRQLIASLDSPQLSQVHGVIQVDVAPAPGDGGFFSDAGGDSHLGETIPMA
                     SRGGA"
     misc_feature    92..391
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="propagated from UniProtKB/Swiss-Prot (P22735.4);
                     Region: Membrane anchorage region"
     misc_feature    92..205
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="propagated from UniProtKB/Swiss-Prot (P22735.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    155..157
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLF6; propagated from
                     UniProtKB/Swiss-Prot (P22735.4); phosphorylation site"
     misc_feature    161..163
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:8973564;
                     propagated from UniProtKB/Swiss-Prot (P22735.4);
                     phosphorylation site"
     misc_feature    266..406
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="propagated from UniProtKB/Swiss-Prot (P22735.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    293..295
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P23606; propagated from
                     UniProtKB/Swiss-Prot (P22735.4); phosphorylation site"
     misc_feature    335..337
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:8973564;
                     propagated from UniProtKB/Swiss-Prot (P22735.4);
                     phosphorylation site"
     misc_feature    344..346
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:8973564;
                     propagated from UniProtKB/Swiss-Prot (P22735.4);
                     phosphorylation site"
     misc_feature    365..367
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:8973564;
                     propagated from UniProtKB/Swiss-Prot (P22735.4);
                     phosphorylation site"
     misc_feature    374..376
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLF6; propagated from
                     UniProtKB/Swiss-Prot (P22735.4); phosphorylation site"
     misc_feature    2468..2542
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="propagated from UniProtKB/Swiss-Prot (P22735.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     repeat_region   2647..2668
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="not present in a different allele"
     repeat_region   2669..2690
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
     regulatory      2724..2729
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="hexamer: AATAAA"
     polyA_site      2744
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="major polyA site"
ORIGIN
        1 atccagtctg tgggtcctgt cccatccatc ctgacctgtt ccatctcagc cccaggactc
       61 agtactgcgg ttgccaacac tgctgccagg catgatggat gggccacgtt ccgatgtggg
      121 ccgttggggt ggcaacccct tgcagccccc taccacgcca tctccagagc cagagccaga
      181 gccagacgga cgctctcgca gaggaggagg ccgttccttc tgggctcgct gctgtggctg
      241 ctgttcatgc cgaaatgcgg cagatgacga ctggggacct gaaccctctg actccagggg
      301 tcgagggtcc agctctggca ctcgaagacc tggctcccgg ggctcagact cccgccggcc
      361 tgtatcccgg ggcagcggtg tcaatgcagc tggagatggc accatccgag agggcatgct
      421 agtagtgaac ggtgtggact tgctgagctc gcgctcggac cagaaccgcc gagagcacca
      481 cacagacgag tatgagtacg acgagctgat agtgcgccgc gggcagcctt tccatatgct
      541 cctcctcctg tcccggacct atgaatcctc tgatcgcatc acccttgagt tactcatcgg
      601 aaacaacccc gaggtgggca agggcacgca cgtgatcatc ccagtgggca aggggggcag
      661 tggaggctgg aaagcccagg tggtcaaggc cagtgggcag aatctgaacc tgcgggtcca
      721 cacttccccc aacgccatca tcggcaagtt tcagttcaca gtccgcacac aatcagacgc
      781 tggggagttc cagttgccct ttgacccccg caatgagatc tacatcctct tcaacccctg
      841 gtgcccagag gacattgtgt acgtggacca tgaggattgg cggcaggagt atgttcttaa
      901 tgagtctggg agaatttact acgggaccga agcacagatt ggtgagcgga cctggaacta
      961 cggccagttt gaccacgggg tgctggatgc ctgcttatac atcctggacc ggcgggggat
     1021 gccatatgga ggccgtggag acccagtcaa tgtctcccgg gtcatctctg ccatggtgaa
     1081 ctccctggat gacaatggag tcctgattgg gaactggtct ggtgattact cccgaggcac
     1141 caacccatca gcgtgggtgg gcagcgtgga gatcctgctt agctacctac gcacgggata
     1201 ttccgtcccc tatggccagt gctgggtctt tgctggcgtg accaccacag tgctgcgctg
     1261 cctgggtctg gccacccgta ctgtcaccaa cttcaactcc gcccacgaca cagacacatc
     1321 ccttaccatg gacatctact tcgacgagaa catgaagccc ctggagcacc tgaaccatga
     1381 ttctgtctgg aacttccatg tgtggaacga ctgctggatg aagaggccgg atctgccctc
     1441 gggctttgat gggtggcagg tggtggatgc cacaccccaa gagactagca gtggcatctt
     1501 ctgctgcggc ccctgctctg tggagtccat caagaatggc ctggtctaca tgaagtacga
     1561 cacgcctttc atttttgctg aggtgaatag tgacaaggtg tactggcagc ggcaggatga
     1621 tggcagcttc aagattgttt atgtggagga gaaggccatc ggcacactca ttgtcacaaa
     1681 ggccatcagc tccaacatgc gggaggacat cacctacctc tataagcacc cagaaggctc
     1741 agacgcagag cggaaggcag tagagacagc agcagcccac ggcagcaaac ccaatgtgta
     1801 tgccaaccgg ggctcagcgg aggatgtggc catgcaggtg gaggcacagg acgcggtgat
     1861 ggggcaggat ctgatggtct ctgtgatgct gatcaatcac agcagcagcc gccgcacagt
     1921 gaaactgcac ctctacctct cagtcacttt ctatactggt gtcagtggta ccatcttcaa
     1981 ggagaccaag aaggaagtgg agctggcacc aggggcctcg gaccgtgtga ccatgccagt
     2041 ggcctacaag gaataccggc cccatcttgt ggaccagggg gccatgctgc tcaatgtctc
     2101 aggccacgtc aaggagagcg ggcaggtgct ggccaagcag cacaccttcc gtctgcgcac
     2161 cccagacctc tccctcacgt tactgggagc agcagtggtt ggccaggagt gtgaagtaca
     2221 gattgtcttc aagaaccccc ttcccgtcac cctcaccaat gtcgtcttcc ggctcgaagg
     2281 ctctgggtta cagaggccca agatcctcaa cgttggggac attggaggca atgaaacagt
     2341 gacactgcgc cagtcgtttg tgcctgtgcg accaggcccc cgccagctca ttgccagctt
     2401 ggacagccca cagctctccc aggtgcacgg tgtcatccag gtggatgtgg ccccagcccc
     2461 tggggatggg ggcttcttct cagacgctgg aggtgacagt cacttaggag agaccatccc
     2521 tatggcatct cgaggtggag cttagccccg tgccaggagc aatgggactg gagtcagatg
     2581 agcaaggaca ttgccccaag ataggggcac actacagagc agctccccag gagctcaggt
     2641 ggggagtcca gggctcccgg agggggagtc cagggctccc ggagagggag tcagtcttca
     2701 cttgcactgg gggaacagat gctaataaac tgttttttaa tgaa
//
LOCUS       NM_000360               1827 bp    mRNA    linear   PRI 17-APR-2023
DEFINITION  Homo sapiens tyrosine hydroxylase (TH), transcript variant 2, mRNA.
ACCESSION   NM_000360
VERSION     NM_000360.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1827)
  AUTHORS   Zhang GY, Cai ZJ, Zhang XL, Yang L, Li YZ, Wei LK, Zhang YP, Chang
            PP and Zhu DN.
  TITLE     [Clinical and genetic characteristics of children with
            dopa-responsive dystonia caused by tyrosine hydroxylase gene
            variations]
  JOURNAL   Zhonghua Er Ke Za Zhi 61 (4), 339-344 (2023)
   PUBMED   37011980
  REMARK    GeneRIF: [Clinical and genetic characteristics of children with
            dopa-responsive dystonia caused by tyrosine hydroxylase gene
            variations].
REFERENCE   2  (bases 1 to 1827)
  AUTHORS   Melo JEC, Santos TFO, Santos RS, Franco HS, Monteiro MCN, Bispo JMM,
            Mendonca MS, Ribeiro AM, Silva RH, Gois AM, Marchioro M, Lins LCRF
            and Santos JR.
  TITLE     Aging accentuates decrease in tyrosine hydroxylase immunoreactivity
            associated with the increase in the motor impairment in a model of
            reserpine-induced parkinsonism
  JOURNAL   J Chem Neuroanat 125, 102162 (2022)
   PUBMED   36115503
  REMARK    GeneRIF: Aging accentuates decrease in tyrosine hydroxylase
            immunoreactivity associated with the increase in the motor
            impairment in a model of reserpine-induced parkinsonism.
REFERENCE   3  (bases 1 to 1827)
  AUTHORS   Wang K, Zhang H, Ji J, Zhang R, Dang W, Xie Q, Zhu Y and Zhang J.
  TITLE     Expression Quantitative Trait Locus rs6356 Is Associated with
            Susceptibility to Heroin Addiction by Potentially Influencing TH
            Gene Expression in the Hippocampus and Nucleus Accumbens
  JOURNAL   J Mol Neurosci 72 (5), 1108-1115 (2022)
   PUBMED   35258801
  REMARK    GeneRIF: Expression Quantitative Trait Locus rs6356 Is Associated
            with Susceptibility to Heroin Addiction by Potentially Influencing
            TH Gene Expression in the Hippocampus and Nucleus Accumbens.
REFERENCE   4  (bases 1 to 1827)
  AUTHORS   Bueno-Carrasco MT, Cuellar J, Flydal MI, Santiago C, Krakenes TA,
            Kleppe R, Lopez-Blanco JR, Marcilla M, Teigen K, Alvira S, Chacon P,
            Martinez A and Valpuesta JM.
  TITLE     Structural mechanism for tyrosine hydroxylase inhibition by dopamine
            and reactivation by Ser40 phosphorylation
  JOURNAL   Nat Commun 13 (1), 74 (2022)
   PUBMED   35013193
  REMARK    GeneRIF: Structural mechanism for tyrosine hydroxylase inhibition by
            dopamine and reactivation by Ser40 phosphorylation. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 1827)
  AUTHORS   Furukawa,Y. and Kish,S.
  TITLE     Tyrosine Hydroxylase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301610
REFERENCE   6  (bases 1 to 1827)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 1827)
  AUTHORS   Haycock JW, Ahn NG, Cobb MH and Krebs EG.
  TITLE     ERK1 and ERK2, two microtubule-associated protein 2 kinases, mediate
            the phosphorylation of tyrosine hydroxylase at serine-31 in situ
  JOURNAL   Proc Natl Acad Sci U S A 89 (6), 2365-2369 (1992)
   PUBMED   1347949
REFERENCE   8  (bases 1 to 1827)
  AUTHORS   Le Bourdelles B, Horellou P, Le Caer JP, Denefle P, Latta M, Haavik
            J, Guibert B, Mayaux JF and Mallet J.
  TITLE     Phosphorylation of human recombinant tyrosine hydroxylase isoforms 1
            and 2: an additional phosphorylated residue in isoform 2, generated
            through alternative splicing
  JOURNAL   J Biol Chem 266 (26), 17124-17130 (1991)
   PUBMED   1680128
REFERENCE   9  (bases 1 to 1827)
  AUTHORS   Haycock JW.
  TITLE     Phosphorylation of tyrosine hydroxylase in situ at serine 8, 19, 31,
            and 40
  JOURNAL   J Biol Chem 265 (20), 11682-11691 (1990)
   PUBMED   1973163
REFERENCE   10  (bases 1 to 1827)
  AUTHORS   Joh,T.H., Park,D.H. and Reis,D.J.
  TITLE     Direct phosphorylation of brain tyrosine hydroxylase by cyclic
            AMP-dependent protein kinase: mechanism of enzyme activation
  JOURNAL   Proc Natl Acad Sci U S A 75 (10), 4744-4748 (1978)
   PUBMED   33381
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X05290.1, BC143611.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968540
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000352909.8/ ENSP00000325951.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC132217.15, X05290.1,
            BM718799.1 and AA447751.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000360.3.
            Summary: The protein encoded by this gene is involved in the
            conversion of tyrosine to dopamine. It is the rate-limiting enzyme
            in the synthesis of catecholamines, hence plays a key role in the
            physiology of adrenergic neurons. Mutations in this gene have been
            associated with autosomal recessive Segawa syndrome. Alternatively
            spliced transcript variants encoding different isoforms have been
            noted for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) uses a different donor splice
            site at the first coding exon and is missing an adjacent in-frame
            coding exon compared to transcript variant 1, resulting in an
            isoform (b) missing a 31 aa segment compared to isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1827
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..1827
                     /gene="TH"
                     /gene_synonym="DYT14; DYT5b; TYH"
                     /note="tyrosine hydroxylase"
                     /db_xref="GeneID:7054"
                     /db_xref="HGNC:HGNC:11782"
                     /db_xref="MIM:191290"
     misc_feature    24..26
                     /gene="TH"
                     /gene_synonym="DYT14; DYT5b; TYH"
                     /note="upstream in-frame stop codon"
     CDS             30..1523
                     /gene="TH"
                     /gene_synonym="DYT14; DYT5b; TYH"
                     /EC_number="1.14.16.2"
                     /note="isoform b is encoded by transcript variant 2;
                     tyrosine 3-monooxygenase; dystonia 14; tyrosine
                     3-hydroxylase"
                     /codon_start=1
                     /product="tyrosine 3-monooxygenase isoform b"
                     /protein_id="NP_000351.2"
                     /db_xref="CCDS:CCDS7730.1"
                     /db_xref="GeneID:7054"
                     /db_xref="HGNC:HGNC:11782"
                     /db_xref="MIM:191290"
                     /translation="MPTPDATTPQAKGFRRAVSELDAKQAEAIMSPRFIGRRQSLIEDA
                     RKEREAAVAAAAAAVPSEPGDPLEAVAFEEKEGKAVLNLLFSPRATKPSALSRAVKVFE
                     TFEAKIHHLETRPAQRPRAGGPHLEYFVRLEVRRGDLAALLSGVRQVSEDVRSPAGPKV
                     PWFPRKVSELDKCHHLVTKFDPDLDLDHPGFSDQVYRQRRKLIAEIAFQYRHGDPIPRV
                     EYTAEEIATWKEVYTTLKGLYATHACGEHLEAFALLERFSGYREDNIPQLEDVSRFLKE
                     RTGFQLRPVAGLLSARDFLASLAFRVFQCTQYIRHASSPMHSPEPDCCHELLGHVPMLA
                     DRTFAQFSQDIGLASLGASDEEIEKLSTLYWFTVEFGLCKQNGEVKAYGAGLLSSYGEL
                     LHCLSEEPEIRAFDPEAAAVQPYQDQTYQSVYFVSESFSDAKDKLRSYASRIQRPFSVK
                     FDPYTLAIDVLDSPQAVRRSLEGVQDELDTLAHALSAIG"
     regulatory      1805..1810
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TH"
                     /gene_synonym="DYT14; DYT5b; TYH"
                     /note="hexamer: AATAAA"
     polyA_site      1827
                     /gene="TH"
                     /gene_synonym="DYT14; DYT5b; TYH"
                     /note="major polyA site"
ORIGIN
        1 agacggagcc cggacctcca cactgagcca tgcccacccc cgacgccacc acgccacagg
       61 ccaagggctt ccgcagggcc gtgtctgagc tggacgccaa gcaggcagag gccatcatgt
      121 ccccgcggtt cattgggcgc aggcagagcc tcatcgagga cgcccgcaag gagcgggagg
      181 cggcggtggc agcagcggcc gctgcagtcc cctcggagcc cggggacccc ctggaggctg
      241 tggcctttga ggagaaggag gggaaggccg tgctaaacct gctcttctcc ccgagggcca
      301 ccaagccctc ggcgctgtcc cgagctgtga aggtgtttga gacgtttgaa gccaaaatcc
      361 accatctaga gacccggccc gcccagaggc cgcgagctgg gggcccccac ctggagtact
      421 tcgtgcgcct cgaggtgcgc cgaggggacc tggccgccct gctcagtggt gtgcgccagg
      481 tgtcagagga cgtgcgcagc cccgcggggc ccaaggtccc ctggttccca agaaaagtgt
      541 cagagctgga caagtgtcat cacctggtca ccaagttcga ccctgacctg gacttggacc
      601 acccgggctt ctcggaccag gtgtaccgcc agcgcaggaa gctgattgct gagatcgcct
      661 tccagtacag gcacggcgac ccgattcccc gtgtggagta caccgccgag gagattgcca
      721 cctggaagga ggtctacacc acgctgaagg gcctctacgc cacgcacgcc tgcggggagc
      781 acctggaggc ctttgctttg ctggagcgct tcagcggcta ccgggaagac aatatccccc
      841 agctggagga cgtctcccgc ttcctgaagg agcgcacggg cttccagctg cggcctgtgg
      901 ccggcctgct gtccgcccgg gacttcctgg ccagcctggc cttccgcgtg ttccagtgca
      961 cccagtatat ccgccacgcg tcctcgccca tgcactcccc tgagccggac tgctgccacg
     1021 agctgctggg gcacgtgccc atgctggccg accgcacctt cgcgcagttc tcgcaggaca
     1081 ttggcctggc gtccctgggg gcctcggatg aggaaattga gaagctgtcc acgctgtact
     1141 ggttcacggt ggagttcggg ctgtgtaagc agaacgggga ggtgaaggcc tatggtgccg
     1201 ggctgctgtc ctcctacggg gagctcctgc actgcctgtc tgaggagcct gagattcggg
     1261 ccttcgaccc tgaggctgcg gccgtgcagc cctaccaaga ccagacgtac cagtcagtct
     1321 acttcgtgtc tgagagcttc agtgacgcca aggacaagct caggagctat gcctcacgca
     1381 tccagcgccc cttctccgtg aagttcgacc cgtacacgct ggccatcgac gtgctggaca
     1441 gcccccaggc cgtgcggcgc tccctggagg gtgtccagga tgagctggac acccttgccc
     1501 atgcgctgag tgccattggc taggtgcacg gcgtccctga gggcccttcc caacctcccc
     1561 tggtcctgca ctgtcccgga gctcaggccc tggtgagggg ctgggtcccg ggtgcccccc
     1621 atgccctccc tgctgccagg ctcccactgc ccctgcacct gcttctcagc gcaacagctg
     1681 tgtgtgcccg tggtgaggtt gtgctgcctg tggtgaggtc ctgtcctggc tcccagggtc
     1741 ctgggggctg ctgcactgcc ctccgccctt ccctgacact gtctgctgcc ccaatcaccg
     1801 tcacaataaa agaaactgtg gtctcta
//
LOCUS       NM_000361               4040 bp    mRNA    linear   PRI 24-MAY-2023
DEFINITION  Homo sapiens thrombomodulin (THBD), mRNA.
ACCESSION   NM_000361
VERSION     NM_000361.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4040)
  AUTHORS   Jiewen M, Yanyi T, Yuanzheng F, Zhipeng C, Wenyi L, Bei H, Yu H and
            Tang LV.
  TITLE     A missense mutation in lectin domain of thrombomodulin causing
            functional deficiency
  JOURNAL   Transl Res 251, 74-83 (2023)
   PUBMED   35921923
  REMARK    GeneRIF: A missense mutation in lectin domain of thrombomodulin
            causing functional deficiency.
REFERENCE   2  (bases 1 to 4040)
  AUTHORS   Voelker MT, Hechaichi N, Ndongson-Dongmo B, Lemm J, Heller R, Bauer
            R, Conway EM, Theilmeier G and Stehr SN.
  TITLE     Role of the lectin-like domain of thrombomodulin in septic
            cardiomyopathy
  JOURNAL   Life Sci 306, 120830 (2022)
   PUBMED   35872006
  REMARK    GeneRIF: Role of the lectin-like domain of thrombomodulin in septic
            cardiomyopathy.
REFERENCE   3  (bases 1 to 4040)
  AUTHORS   Zhu Z, Guo D, Jia Y, Zhang K, Shi M, Peng Y, Yang P, Chen J, Zhang
            J, Wang A, Xu T, Zhang Y and He J.
  TITLE     Plasma Thrombomodulin Levels and Ischemic Stroke: A Population-Based
            Prognostic Cohort Study
  JOURNAL   Neurology 99 (9), e916-e924 (2022)
   PUBMED   35654592
  REMARK    GeneRIF: Plasma Thrombomodulin Levels and Ischemic Stroke: A
            Population-Based Prognostic Cohort Study.
REFERENCE   4  (bases 1 to 4040)
  AUTHORS   Singh A, Rawat A, Kaur A, Kaur A, Kumrah R, Johnson N, Chaudhary H,
            Pilania RK, Srivastava P and Singh S.
  TITLE     Association of SNP (rs1042579) in thrombomodulin gene and plasma
            thrombomodulin level in North Indian children with Kawasaki disease
  JOURNAL   Mol Biol Rep 49 (8), 7399-7407 (2022)
   PUBMED   35587845
  REMARK    GeneRIF: Association of SNP (rs1042579) in thrombomodulin gene and
            plasma thrombomodulin level in North Indian children with Kawasaki
            disease.
REFERENCE   5  (bases 1 to 4040)
  AUTHORS   Vijay A, Jha PK, Parveen S, Goel S, Prabhakar A, Sharma S, Kumar B,
            Chatterjee T, Bajaj N, Nair V, Sharma M and Ashraf MZ.
  TITLE     Aberrant promoter hypermethylation regulates thrombomodulin in high
            altitude induced deep vein thrombosis
  JOURNAL   Thromb Res 215, 5-13 (2022)
   PUBMED   35580466
  REMARK    GeneRIF: Aberrant promoter hypermethylation regulates thrombomodulin
            in high altitude induced deep vein thrombosis.
REFERENCE   6  (bases 1 to 4040)
  AUTHORS   Noris,M., Bresin,E., Mele,C. and Remuzzi,G.
  TITLE     Genetic Atypical Hemolytic-Uremic Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301541
REFERENCE   7  (bases 1 to 4040)
  AUTHORS   Boffa MC, Jackman RW, Peyri N, Boffa JF and George B.
  TITLE     Thrombomodulin in the central nervous system
  JOURNAL   Nouv Rev Fr Hematol (1978) 33 (6), 423-429 (1991)
   PUBMED   1667949
REFERENCE   8  (bases 1 to 4040)
  AUTHORS   Jakubowski HV and Owen WG.
  TITLE     Macromolecular specificity determinants on thrombin for fibrinogen
            and thrombomodulin
  JOURNAL   J Biol Chem 264 (19), 11117-11121 (1989)
   PUBMED   2544585
REFERENCE   9  (bases 1 to 4040)
  AUTHORS   Esmon CT.
  TITLE     The roles of protein C and thrombomodulin in the regulation of blood
            coagulation
  JOURNAL   J Biol Chem 264 (9), 4743-4746 (1989)
   PUBMED   2538457
  REMARK    Review article
REFERENCE   10  (bases 1 to 4040)
  AUTHORS   Jackman,R.W., Beeler,D.L., Fritze,L., Soff,G. and Rosenberg,R.D.
  TITLE     Human thrombomodulin gene is intron depleted: nucleic acid sequences
            of the cDNA and gene predict protein structure and suggest sites of
            regulatory control
  JOURNAL   Proc Natl Acad Sci U S A 84 (18), 6425-6429 (1987)
   PUBMED   2819876
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: M16552.1, BC035602.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000377103.3/ ENSP00000366307.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049651.2, BG771668.1,
            M16552.1 and AI285986.1.
            On Aug 31, 2019 this sequence version replaced NM_000361.2.
            Summary: The protein encoded by this intronless gene is an
            endothelial-specific type I membrane receptor that binds thrombin.
            This binding results in the activation of protein C, which degrades
            clotting factors Va and VIIIa and reduces the amount of thrombin
            generated. Mutations in this gene are a cause of thromboembolic
            disease, also known as inherited thrombophilia. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4040
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.21"
     gene            1..4040
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="thrombomodulin"
                     /db_xref="GeneID:7056"
                     /db_xref="HGNC:HGNC:11784"
                     /db_xref="MIM:188040"
     misc_feature    1..3
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MSEAASQGLRAAARSVWAGTDRRGCRHRRPVPLCSGTALSQCPRFPRRLHAARLGN"
     CDS             169..1896
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="fetomodulin; CD141 antigen"
                     /codon_start=1
                     /product="thrombomodulin precursor"
                     /protein_id="NP_000352.1"
                     /db_xref="CCDS:CCDS13148.1"
                     /db_xref="GeneID:7056"
                     /db_xref="HGNC:HGNC:11784"
                     /db_xref="MIM:188040"
                     /translation="MLGVLVLGALALAGLGFPAPAEPQPGGSQCVEHDCFALYPGPATF
                     LNASQICDGLRGHLMTVRSSVAADVISLLLNGDGGVGRRRLWIGLQLPPGCGDPKRLGP
                     LRGFQWVTGDNNTSYSRWARLDLNGAPLCGPLCVAVSAAEATVPSEPIWEEQQCEVKAD
                     GFLCEFHFPATCRPLAVEPGAAAAAVSITYGTPFAARGADFQALPVGSSAAVAPLGLQL
                     MCTAPPGAVQGHWAREAPGAWDCSVENGGCEHACNAIPGAPRCQCPAGAALQADGRSCT
                     ASATQSCNDLCEHFCVPNPDQPGSYSCMCETGYRLAADQHRCEDVDDCILEPSPCPQRC
                     VNTQGGFECHCYPNYDLVDGECVEPVDPCFRANCEYQCQPLNQTSYLCVCAEGFAPIPH
                     EPHRCQMFCNQTACPADCDPNTQASCECPEGYILDDGFICTDIDECENGGFCSGVCHNL
                     PGTFECICGPDSALARHIGTDCDSGKVDGGDSGSGEPPPSPTPGSTLTPPAVGLVHSGL
                     LIGISIASLCLVVALLALLCHLRKKQGAARAKMEYKCAAPSKEVVLQHVRTERTPQRL"
     sig_peptide     169..231
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
     mat_peptide     232..1893
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /product="thrombomodulin"
     misc_feature    307..309
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P07204.2); glycosylation site"
     misc_feature    511..513
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P07204.2); glycosylation site"
     misc_feature    514..516
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P07204.2); glycosylation site"
     misc_feature    1192..1194
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="(3R)-3-hydroxyasparagine.
                     /evidence=ECO:0000269|PubMed:8390446; propagated from
                     UniProtKB/Swiss-Prot (P07204.2); hydroxylation site"
     misc_feature    1312..1314
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P07204.2); glycosylation site"
     misc_feature    1393..1395
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P07204.2); glycosylation site"
     misc_feature    1609..1713
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="propagated from UniProtKB/Swiss-Prot (P07204.2);
                     Region: Involved in alpha-L/beta-2 and alpha-M/beta-2
                     integrin binding. /evidence=ECO:0000269|PubMed:27055590"
     misc_feature    1618..1686
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="propagated from UniProtKB/Swiss-Prot (P07204.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1636..1638
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="O-linked (Xyl...) (chondroitin sulfate) serine.
                     /evidence=ECO:0000269|PubMed:8216207; propagated from
                     UniProtKB/Swiss-Prot (P07204.2); glycosylation site"
     misc_feature    1642..1644
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="O-linked (Xyl...) (chondroitin sulfate) serine.
                     /evidence=ECO:0000269|PubMed:8216207; propagated from
                     UniProtKB/Swiss-Prot (P07204.2); glycosylation site"
     misc_feature    1714..1785
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="propagated from UniProtKB/Swiss-Prot (P07204.2);
                     transmembrane region"
     regulatory      3656..3661
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="hexamer: AATAAA"
     polyA_site      3675
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="major polyA site"
     regulatory      4007..4012
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="hexamer: AATAAA"
     polyA_site      4040
                     /gene="THBD"
                     /gene_synonym="AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM;
                     TM"
                     /note="major polyA site"
ORIGIN
        1 atgtcagagg ctgcctcgca ggggctgcgc gcagcggcaa gaagtgtctg ggctgggacg
       61 gacaggagag gctgtcgcca tcggcgtcct gtgcccctct gctccggcac ggccctgtcg
      121 cagtgcccgc gctttccccg gcgcctgcac gcggcgcgcc tgggtaacat gcttggggtc
      181 ctggtccttg gcgcgctggc cctggccggc ctggggttcc ccgcacccgc agagccgcag
      241 ccgggtggca gccagtgcgt cgagcacgac tgcttcgcgc tctacccggg ccccgcgacc
      301 ttcctcaatg ccagtcagat ctgcgacgga ctgcggggcc acctaatgac agtgcgctcc
      361 tcggtggctg ccgatgtcat ttccttgcta ctgaacggcg acggcggcgt tggccgccgg
      421 cgcctctgga tcggcctgca gctgccaccc ggctgcggcg accccaagcg cctcgggccc
      481 ctgcgcggct tccagtgggt tacgggagac aacaacacca gctatagcag gtgggcacgg
      541 ctcgacctca atggggctcc cctctgcggc ccgttgtgcg tcgctgtctc cgctgctgag
      601 gccactgtgc ccagcgagcc gatctgggag gagcagcagt gcgaagtgaa ggccgatggc
      661 ttcctctgcg agttccactt cccagccacc tgcaggccac tggctgtgga gcccggcgcc
      721 gcggctgccg ccgtctcgat cacctacggc accccgttcg cggcccgcgg agcggacttc
      781 caggcgctgc cggtgggcag ctccgccgcg gtggctcccc tcggcttaca gctaatgtgc
      841 accgcgccgc ccggagcggt ccaggggcac tgggccaggg aggcgccggg cgcttgggac
      901 tgcagcgtgg agaacggcgg ctgcgagcac gcgtgcaatg cgatccctgg ggctccccgc
      961 tgccagtgcc cagccggcgc cgccctgcag gcagacgggc gctcctgcac cgcatccgcg
     1021 acgcagtcct gcaacgacct ctgcgagcac ttctgcgttc ccaaccccga ccagccgggc
     1081 tcctactcgt gcatgtgcga gaccggctac cggctggcgg ccgaccaaca ccggtgcgag
     1141 gacgtggatg actgcatact ggagcccagt ccgtgtccgc agcgctgtgt caacacacag
     1201 ggtggcttcg agtgccactg ctaccctaac tacgacctgg tggacggcga gtgtgtggag
     1261 cccgtggacc cgtgcttcag agccaactgc gagtaccagt gccagcccct gaaccaaact
     1321 agctacctct gcgtctgcgc cgagggcttc gcgcccattc cccacgagcc gcacaggtgc
     1381 cagatgtttt gcaaccagac tgcctgtcca gccgactgcg accccaacac ccaggctagc
     1441 tgtgagtgcc ctgaaggcta catcctggac gacggtttca tctgcacgga catcgacgag
     1501 tgcgaaaacg gcggcttctg ctccggggtg tgccacaacc tccccggtac cttcgagtgc
     1561 atctgcgggc ccgactcggc ccttgcccgc cacattggca ccgactgtga ctccggcaag
     1621 gtggacggtg gcgacagcgg ctctggcgag cccccgccca gcccgacgcc cggctccacc
     1681 ttgactcctc cggccgtggg gctcgtgcat tcgggcttgc tcataggcat ctccatcgcg
     1741 agcctgtgcc tggtggtggc gcttttggcg ctcctctgcc acctgcgcaa gaagcagggc
     1801 gccgccaggg ccaagatgga gtacaagtgc gcggcccctt ccaaggaggt agtgctgcag
     1861 cacgtgcgga ccgagcggac gccgcagaga ctctgagcgg cctccgtcca ggagcctggc
     1921 tccgtccagg agcctgtgcc tcctcacccc cagctttgct accaaagcac cttagctggc
     1981 attacagctg gagaagaccc tccccgcacc ccccaagctg ttttcttcta ttccatggct
     2041 aactggcgag ggggtgatta gagggaggag aatgagcctc ggcctcttcc gtgacgtcac
     2101 tggaccactg ggcaatgatg gcaattttgt aacgaagaca cagactgcga tttgtcccag
     2161 gtcctcacta ccgggcgcag gagggtgagc gttattggtc ggcagccttc tgggcagacc
     2221 ttgacctcgt gggctaggga tgactaaaat atttattttt tttaagtatt taggtttttg
     2281 tttgtttcct ttgttcttac ctgtatgtct ccagtatcca ctttgcacag ctctccggtc
     2341 tctctctctc tacaaactcc cacttgtcat gtgacaggta aactatcttg gtgaattttt
     2401 ttttcctagc cctctcacat ttatgaagca agccccactt attccccatt cttcctagtt
     2461 ttctcctccc aggaactggg ccaactcacc tgagtcaccc tacctgtgcc tgaccctact
     2521 tcttttgctc ttagctgtct gctcagacag aacccctaca tgaaacagaa acaaaaacac
     2581 taaaaataaa aatggccatt tgctttttca ccagatttgc taatttatcc tgaaatttca
     2641 gattcccaga gcaaaataat tttaaacaaa ggttgagatg taaaaggtat taaattgatg
     2701 ttgctggact gtcatagaaa ttacacccaa agaggtattt atctttactt ttaaacagtg
     2761 agcctgaatt ttgttgctgt tttgatttgt actgaaaaat ggtaattgtt gctaatcttc
     2821 ttatgcaatt tccttttttg ttattattac ttatttttga cagtgttgaa aatgttcaga
     2881 aggttgctct agattgagag aagagacaaa cacctcccag gagacagttc aagaaagctt
     2941 caaactgcat gattcatgcc aattagcaat tgactgtcac tgttccttgt cactggtaga
     3001 ccaaaataaa accagctcta ctggtcttgt ggaattggga gcttgggaat ggatcctgga
     3061 ggatgcccaa ttagggccta gccttaatca ggtcctcaga gaatttctac catttcagag
     3121 aggccttttg gaatgtggcc cctgaacaag aattggaagc tgccctgccc atgggagctg
     3181 gttagaaatg cagaatccta ggctccaccc catccagttc atgagaatct atatttaaca
     3241 agatctgcag ggggtgtgtc tgctcagtaa tttgaggaca accattccag actgcttcca
     3301 attttctgga atacatgaaa tatagatcag ttataagtag caggccaagt caggccctta
     3361 ttttcaagaa actgaggaat tttctttgtg tagctttgct ctttggtaga aaaggctagg
     3421 tacacagctc tagacactgc cacacagggt ctgcaaggtc tttggttcag ctaagctagg
     3481 aatgaaatcc tgcttcagtg tatggaaata aatgtatcat agaaatgtaa cttttgtaag
     3541 acaaaggttt tcctcttcta ttttgtaaac tcaaaatatt tgtacatagt tatttattta
     3601 ttggagataa tctagaacac aggcaaaatc cttgcttatg acatcacttg tacaaaataa
     3661 acaaataaca atgtgctctc gggttgtgtg tctgttcact tttcctccct cagtgccctc
     3721 attttatgtc attaaatggg gctcacaaac catgcaaatg ctatgagatg catggagggc
     3781 tgccctgtac cccagcactt gtgttgtctg gtggtggcac catctctgat tttcaaagct
     3841 ttttccagag gctattattt tcactgtaga atgatttcat gctatctctg tgtgcacaaa
     3901 tatttatttt ctttctgtaa ccataacaac ttcatatatg aggacttgtg tctctgtgct
     3961 tttaaatgca taaatgcatt ataggatcat ttgttggaat gaattaaata aacccttcct
     4021 ggggcatctg gcgaatccca
//
LOCUS       NM_000362               4597 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.
ACCESSION   NM_000362
VERSION     NM_000362.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4597)
  AUTHORS   Zhou Y, Zhang T, Wang S, Yang R, Jiao Z, Lu K, Li H, Jiang W and
            Zhang X.
  TITLE     Targeting of HBP1/TIMP3 axis as a novel strategy against breast
            cancer
  JOURNAL   Pharmacol Res 194, 106846 (2023)
   PUBMED   37414199
  REMARK    GeneRIF: Targeting of HBP1/TIMP3 axis as a novel strategy against
            breast cancer.
REFERENCE   2  (bases 1 to 4597)
  AUTHORS   Hsieh CY, Lin CY, Wang SS, Chou YE, Chien MH, Wen YC, Hsieh MJ and
            Yang SF.
  TITLE     Impact of Clinicopathological Characteristics and Tissue Inhibitor
            of Metalloproteinase-3 Polymorphism Rs9619311 on Biochemical
            Recurrence in Taiwanese Patients with Prostate Cancer
  JOURNAL   Int J Environ Res Public Health 20 (1), 306 (2022)
   PUBMED   36612628
  REMARK    GeneRIF: Impact of Clinicopathological Characteristics and Tissue
            Inhibitor of Metalloproteinase-3 Polymorphism Rs9619311 on
            Biochemical Recurrence in Taiwanese Patients with Prostate Cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4597)
  AUTHORS   Chang RM, Fu Y, Zeng J, Zhu XY and Gao Y.
  TITLE     Cancer-derived exosomal miR-197-3p confers angiogenesis via
            targeting TIMP2/3 in lung adenocarcinoma metastasis
  JOURNAL   Cell Death Dis 13 (12), 1032 (2022)
   PUBMED   36494333
  REMARK    GeneRIF: Cancer-derived exosomal miR-197-3p confers angiogenesis via
            targeting TIMP2/3 in lung adenocarcinoma metastasis. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 4597)
  AUTHORS   Wu MM, Chen CW, Chen CY, Lee CH, Chou M, Hsu LI, Lee TC and Chen CJ.
  TITLE     TIMP3 Gene Polymorphisms of -1296 T > C and -915 A > G Increase the
            Susceptibility to Arsenic-Induced Skin Cancer: A Cohort Study and In
            Silico Analysis of Mutation Impacts
  JOURNAL   Int J Mol Sci 23 (23), 14980 (2022)
   PUBMED   36499314
  REMARK    GeneRIF: TIMP3 Gene Polymorphisms of -1296 T > C and -915 A > G
            Increase the Susceptibility to Arsenic-Induced Skin Cancer: A Cohort
            Study and In Silico Analysis of Mutation Impacts. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 4597)
  AUTHORS   Qi JH and Anand-Apte B.
  TITLE     Deglycosylation Increases the Aggregation and Angiogenic Properties
            of Mutant Tissue Inhibitor of Metalloproteinase 3 Protein:
            Implications for Sorsby Fundus Dystrophy
  JOURNAL   Int J Mol Sci 23 (22), 14231 (2022)
   PUBMED   36430707
  REMARK    GeneRIF: Deglycosylation Increases the Aggregation and Angiogenic
            Properties of Mutant Tissue Inhibitor of Metalloproteinase 3
            Protein: Implications for Sorsby Fundus Dystrophy. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 4597)
  AUTHORS   Higuchi T, Kanzaki H, Nakayama H, Fujimoto M, Hatayama H, Kojima K,
            Iwai M, Mori T and Fujita J.
  TITLE     Induction of tissue inhibitor of metalloproteinase 3 gene expression
            during in vitro decidualization of human endometrial stromal cells
  JOURNAL   Endocrinology 136 (11), 4973-4981 (1995)
   PUBMED   7588231
REFERENCE   7  (bases 1 to 4597)
  AUTHORS   Wick M, Haronen R, Mumberg D, Burger C, Olsen BR, Budarf ML, Apte SS
            and Muller R.
  TITLE     Structure of the human TIMP-3 gene and its cell cycle-regulated
            promoter
  JOURNAL   Biochem J 311 (Pt 2) (Pt 2), 549-554 (1995)
   PUBMED   7487894
REFERENCE   8  (bases 1 to 4597)
  AUTHORS   Jacobson SG, Cideciyan AV, Regunath G, Rodriguez FJ, Vandenburgh K,
            Sheffield VC and Stone EM.
  TITLE     Night blindness in Sorsby's fundus dystrophy reversed by vitamin A
  JOURNAL   Nat Genet 11 (1), 27-32 (1995)
   PUBMED   7550309
REFERENCE   9  (bases 1 to 4597)
  AUTHORS   Docherty,A.J., Lyons,A., Smith,B.J., Wright,E.M., Stephens,P.E.,
            Harris,T.J., Murphy,G. and Reynolds,J.J.
  TITLE     Sequence of human tissue inhibitor of metalloproteinases and its
            identity to erythroid-potentiating activity
  JOURNAL   Nature 318 (6041), 66-69 (1985)
   PUBMED   3903517
REFERENCE   10  (bases 1 to 4597)
  AUTHORS   Forsius,H.R., Eriksson,A.W., Suvanto,E.A. and Alanko,H.I.
  TITLE     Pseudoinflammatory fundus dystrophy with autosomal recessive
            inheritance
  JOURNAL   Am J Ophthalmol 94 (5), 634-649 (1982)
   PUBMED   7148944
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853562.22363.1, U14394.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000266085.7/ ENSP00000266085.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL023282.1, BC014277.2,
            Z98256.1 and AF035289.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 23, 2019 this sequence version replaced NM_000362.4.
            Summary: This gene belongs to the TIMP gene family. The proteins
            encoded by this gene family are inhibitors of the matrix
            metalloproteinases, a group of peptidases involved in degradation
            of the extracellular matrix (ECM). Expression of this gene is
            induced in response to mitogenic stimulation and this netrin
            domain-containing protein is localized to the ECM. Mutations in
            this gene have been associated with the autosomal dominant disorder
            Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4597
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.3"
     gene            1..4597
                     /gene="TIMP3"
                     /gene_synonym="HSMRK222; K222; K222TA2; SFD"
                     /note="TIMP metallopeptidase inhibitor 3"
                     /db_xref="GeneID:7078"
                     /db_xref="HGNC:HGNC:11822"
                     /db_xref="MIM:188826"
     CDS             298..933
                     /gene="TIMP3"
                     /gene_synonym="HSMRK222; K222; K222TA2; SFD"
                     /note="MIG-5 protein; metalloproteinase inhibitor 3;
                     protein MIG-5; tissue inhibitor of metalloproteinases 3;
                     TIMP-3"
                     /codon_start=1
                     /product="metalloproteinase inhibitor 3 precursor"
                     /protein_id="NP_000353.1"
                     /db_xref="CCDS:CCDS13911.1"
                     /db_xref="GeneID:7078"
                     /db_xref="HGNC:HGNC:11822"
                     /db_xref="MIM:188826"
                     /translation="MTPWLGLIVLLGSWSLGDWGAEACTCSPSHPQDAFCNSDIVIRAK
                     VVGKKLVKEGPFGTLVYTIKQMKMYRGFTKMPHVQYIHTEASESLCGLKLEVNKYQYLL
                     TGRVYDGKMYTGLCNFVERWDQLTLSQRKGLNYRYHLGCNCKIKSCYYLPCFVTSKNEC
                     LWTDMLSNFGYPGYQSKHYACIRQKGGYCSWYRGWAPPDKSIINATDP"
     sig_peptide     298..366
                     /gene="TIMP3"
                     /gene_synonym="HSMRK222; K222; K222TA2; SFD"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     367..930
                     /gene="TIMP3"
                     /gene_synonym="HSMRK222; K222; K222TA2; SFD"
                     /product="Metalloproteinase inhibitor 3.
                     /id=PRO_0000034341"
                     /note="propagated from UniProtKB/Swiss-Prot (P35625.2)"
     misc_feature    367..378
                     /gene="TIMP3"
                     /gene_synonym="HSMRK222; K222; K222TA2; SFD"
                     /note="propagated from UniProtKB/Swiss-Prot (P35625.2);
                     Region: Involved in metalloproteinase-binding.
                     /evidence=ECO:0000269|PubMed:18638486,
                     ECO:0007744|PDB:3CKI"
     misc_feature    550..552
                     /gene="TIMP3"
                     /gene_synonym="HSMRK222; K222; K222TA2; SFD"
                     /note="Involved in metalloproteinase-binding.
                     /evidence=ECO:0000269|PubMed:18638486,
                     ECO:0007744|PDB:3CKI; propagated from UniProtKB/Swiss-Prot
                     (P35625.2); other site"
     misc_feature    559..564
                     /gene="TIMP3"
                     /gene_synonym="HSMRK222; K222; K222TA2; SFD"
                     /note="propagated from UniProtKB/Swiss-Prot (P35625.2);
                     Region: Involved in metalloproteinase-binding.
                     /evidence=ECO:0000269|PubMed:18638486,
                     ECO:0007744|PDB:3CKI"
     misc_feature    610..861
                     /gene="TIMP3"
                     /gene_synonym="HSMRK222; K222; K222TA2; SFD"
                     /note="propagated from UniProtKB/Swiss-Prot (P35625.2);
                     Region: Mediates interaction with EFEMP1.
                     /evidence=ECO:0000269|PubMed:15123717"
     regulatory      2105..2110
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMP3"
                     /gene_synonym="HSMRK222; K222; K222TA2; SFD"
                     /note="hexamer: ATTAAA"
     polyA_site      2125
                     /gene="TIMP3"
                     /gene_synonym="HSMRK222; K222; K222TA2; SFD"
                     /note="major polyA site"
     regulatory      4572..4577
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMP3"
                     /gene_synonym="HSMRK222; K222; K222TA2; SFD"
                     /note="hexamer: AGTAAA"
     polyA_site      4597
                     /gene="TIMP3"
                     /gene_synonym="HSMRK222; K222; K222TA2; SFD"
                     /note="major polyA site"
ORIGIN
        1 agagcgggca gcaggcaggc ggcgggcgct cagacggctt ctcctcctcc tcttgctcct
       61 ccagctcctg ctccttcgcc gggaggccgc ccgccgagtc ctgcgccagc gccgaggcag
      121 cctcgctgcg ccccatcccg tcccgccggg cactcggagg gcagcgcgcc ggaggccaag
      181 gttgccccgc acggcccggc gggcgagcga gctcgggctg cagcagcccc gccggcggcg
      241 cgcacggcaa ctttggagag gcgagcagca gccccggcag cggcggcagc agcggcaatg
      301 accccttggc tcgggctcat cgtgctcctg ggcagctgga gcctggggga ctggggcgcc
      361 gaggcgtgca catgctcgcc cagccacccc caggacgcct tctgcaactc cgacatcgtg
      421 atccgggcca aggtggtggg gaagaagctg gtaaaggagg ggcccttcgg cacgctggtc
      481 tacaccatca agcagatgaa gatgtaccga ggcttcacca agatgcccca tgtgcagtac
      541 atccatacgg aagcttccga gagtctctgt ggccttaagc tggaggtcaa caagtaccag
      601 tacctgctga caggtcgcgt ctatgatggc aagatgtaca cggggctgtg caacttcgtg
      661 gagaggtggg accagctcac cctctcccag cgcaaggggc tgaactatcg gtatcacctg
      721 ggttgtaact gcaagatcaa gtcctgctac tacctgcctt gctttgtgac ttccaagaac
      781 gagtgtctct ggaccgacat gctctccaat ttcggttacc ctggctacca gtccaaacac
      841 tacgcctgca tccggcagaa gggcggctac tgcagctggt accgaggatg ggcccccccg
      901 gataaaagca tcatcaatgc cacagacccc tgagcgccag accctgcccc acctcacttc
      961 cctcccttcc cgctgagctt cccttggaca ctaactcttc ccagatgatg acaatgaaat
     1021 tagtgcctgt tttcttgcaa atttagcact tggaacattt aaagaaaggt ctatgctgtc
     1081 atatggggtt tattgggaac tatcctcctg gccccaccct gccccttctt tttggttttg
     1141 acatcattca tttccacctg ggaatttctg gtgccatgcc agaaagaatg aggaacctgt
     1201 attcctcttc ttcgtgataa tataatctct atttttttag gaaaacaaaa atgaaaaact
     1261 actccatttg aggattgtaa ttcccacccc tcttgcttct tccccacctc accatctccc
     1321 agaccctctt ccctttgccc ttctcctcca atacataaag gacacagaca aggaacttgc
     1381 tgaaaggcca accatttcag gatcagtcaa aggcagcaag cagatagact caaggtgtgt
     1441 gaaagatgtt atacaccagg agctgccact gcatgtccca accagactgt gtctgtctgt
     1501 gtctgcatgt aagagtgagg gagggaagga aggaactaca agagagtcgg agatgatgca
     1561 gcacacacac aattccccag cccagtgatg cttgtgttga ccagatgttc ctgagtctgg
     1621 agcaagcacc caggccagaa taacagagct ttcttagttg gtgaagactt aaacatctgc
     1681 ctgaggtcag gaggcaattt gcctgccttg tacaaaagct caggtgaaag actgagatga
     1741 atgtctttcc tctccctgcc tcccaccaga cttcctcctg gaaaacgctt tggtagattt
     1801 ggccaggagc tttcttttat gtaaattgga taaatacaca caccatacac tatccacaga
     1861 tatagccaag tagatttggg tagaggatac tatttccaga atagtgttta gctcacctag
     1921 ggggatatgt ttgtatacac atttgcatat acccacatgg ggacataagc taattttttt
     1981 acaggacaca gaattctgtt caatgctgtt aaatatgcca atagtttaat ctcttctatt
     2041 ttgttgtcgt tgcttgtttg aagaaaatca tgacattcca agttgacatt tttttttcat
     2101 tttaattaaa atttgaaatt ctgaacaccg tcagcaccct ctcttcccta tcatgggtca
     2161 tctgacccct gtccgtctcc ttgtccctgc ttcatgtttg ggggcctttc tttaactgcc
     2221 ttcctggctt agctcagatg gcagatgaga gtgtagtcaa gggcctgggc acaggaggga
     2281 gagctgcaga gtgtcctgcc tgccttggct ggagggacac ctctcctggg tgtggagaca
     2341 gcttggttcc ctttccctag ctccctggtg ggtgaatgcc acctcctgag atcctcacct
     2401 cttggaatta aaattgttgg tcactgggga aagcctgagt ttgcaaccag ttgtagggtt
     2461 tctgttgtgt tttttttttt ttttttgaaa taaaactata atataaattc tcctattaaa
     2521 taaaattatt ttaagtttta gtgtcaaaag tgagatgctg agagtaggtg ataatgtata
     2581 ttttacagag tgggggttgg caggatggtg acattgaaca tgattgctct ctgtctcttt
     2641 tttcagctta tgggtattta tcttctatta gtatttgtat cttcagttca ttccacttta
     2701 ggaaacagag ctgccaattg aaacagaaga agaaaaaaaa aaaaagcagc agacaacaca
     2761 ctgtagagtc ttgcacacac acaagtgccc aggcaaggtg cttggcagaa ccgcagagtg
     2821 ggaagagagt accggcatcg ggtttccttg ggatcaattt cattaccgtg tacctttccc
     2881 attgtggtca tgccatttgg cagggggaga atgggaggct tggccttctt tgtgaggcag
     2941 tgtgagcaga agctgatgcc agcatgtcac tggttttgaa gggatgagcc cagacttgat
     3001 gttttgggat tgtccttatt ttaacctcaa ggtctcgcat ggtggggccc ctgaccaacc
     3061 tacacaagtt ccctcccaca agtggacatc agtgtcttct ctgtgaggca tctggccatt
     3121 cgcactccct ggtgtggtca gcctctctca cacaaggagg aacttgggtg aaggctgagt
     3181 gtgaggcacc tgaagtttcc ctgcggagtc gataaattag cagaaccaca tccccatctg
     3241 ttaggccttg gtgaggaggc cctgggcaaa gaagggtctt tcgcaaagcg atgtcagagg
     3301 gcggttttga gctttctata agctatagct ttgtttattt cacccgttca cttactgtat
     3361 aatttaaaat catttatgta gctgagacac ttctgtattt caatcatatc atgaacattt
     3421 tattttgcta aatcttgtgt catgtgtagg ctgtaatatg tgtacattgt gtttaagaga
     3481 aaaatgaaac ccacatgccg ccattttcct gaatcaaatt ctgcagtgga atggagagga
     3541 aaatacttct aggcaagcag ctagactggt gaattggggg aaatagaagg aactagtaac
     3601 tgagactcct ccagcctcct ccctattgga atcccaatgg ctcctggagt aggaaaaaag
     3661 tttaaactac attcatgttc ttgttctgtg tcactcggcc ctgggtagtc taccatttac
     3721 ttcaccccaa gtcctgctgc ccatccagtt gggaagccat gattttccta agaatccagg
     3781 gccatgggag atacaattcc aagttctcgc ttcctccttt gggcatctct tctgcctccc
     3841 aatcaaggaa gctccatgct caggctctca gctctcgggc cagtgctctg ctctgtccag
     3901 ggtaggtaat actgggagac tcctgtcttt taccctcccc tcgttccaga cctgcctcat
     3961 ggtggcaaca tggttcttga acaattaaag aaacaaatga ctttttggaa tagccctgtc
     4021 tagggcaaac tgtggccccc aggagacact acccttccat gccccagacc tctgtcttgc
     4081 atgtgacaat tgacaatctg gactacccca agatggcacc caagtgtttg gcttctggct
     4141 acctaaggtt aacatgtcac tagagtattt ttatgagaga caaacattat aaaaatctga
     4201 tggcaaaagc aaaacaaaat ggaaagtagg ggaggtggat gtgacaacaa cttccaaatt
     4261 ggctctttgg aggcgagagg aaggggagaa cttggagaat agtttttgct ttgggggtag
     4321 aggcttctta gattctccca gcatccgcct ttccctttag ccagtctgct gtcctgaaac
     4381 ccagaagtga tggagagaaa ccaacaagag atctcgaacc ctgtctagaa ggaatgtatt
     4441 tgttgctaaa tttcgtagca ctgtttacag ttttcctcca tgttatttat gaattttata
     4501 ttccgtgaat gtatattgtc ttgtaatgtt gcataatgtt cactttttat agtgtgtcct
     4561 ttattctaaa cagtaaagtg gttttatttc tatcaca
//
LOCUS       NM_000363                843 bp    mRNA    linear   PRI 26-MAR-2023
DEFINITION  Homo sapiens troponin I3, cardiac type (TNNI3), mRNA.
ACCESSION   NM_000363
VERSION     NM_000363.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 843)
  AUTHORS   Horiuchi YU, Wettersten N, VAN Veldhuisen DJ, Mueller C, Filippatos
            G, Nowak R, Hogan C, Kontos MC, Cannon CM, Mueller GA, Birkhahn R,
            Taub P, Vilke GM, McDonald K, Mahon N, Nunez J, Briguori C, Passino
            C, Duff S, Maisel A and Murray PT.
  TITLE     Galectin-3, Acute Kidney Injury and Myocardial Damage in Patients
            With Acute Heart Failure
  JOURNAL   J Card Fail 29 (3), 269-277 (2023)
   PUBMED   36332898
  REMARK    GeneRIF: Galectin-3, Acute Kidney Injury and Myocardial Damage in
            Patients With Acute Heart Failure.
REFERENCE   2  (bases 1 to 843)
  AUTHORS   Ahmed SH, Pervez N, Rehan ST, Shaikh TG and Waseem S.
  TITLE     Postoperative cardiac troponin I as an indicator of surgical
            outcomes: A systematic review
  JOURNAL   J Card Surg 37 (12), 5351-5361 (2022)
   PUBMED   36403270
  REMARK    GeneRIF: Postoperative cardiac troponin I as an indicator of
            surgical outcomes: A systematic review. Review article
REFERENCE   3  (bases 1 to 843)
  AUTHORS   Gao DF, Liang Y, Lin GZ, Zhang YM, Yang G, Zhan M, Liu SK, Wang CD,
            Liu J, Zhu Z and Zhou Z.
  TITLE     [Efficacy analysis of high-sensitivity troponin I concentration and
            its changes in the diagnosis of acute myocardial infarction]
  JOURNAL   Zhonghua Yi Xue Za Zhi 102 (43), 3463-3468 (2022)
   PUBMED   36396363
  REMARK    GeneRIF: [Efficacy analysis of high-sensitivity troponin I
            concentration and its changes in the diagnosis of acute myocardial
            infarction].
REFERENCE   4  (bases 1 to 843)
  AUTHORS   Nanni S, Garofalo M, Schinzari M, Nardi E, Semprini F, Battistini P,
            Barberini F, Foa A, Baiocchi M, Castelli A, Folesani G, Pacini D,
            Galie N and Corsini A.
  TITLE     Prognostic value of high-sensitivity cardiac troponin I early after
            coronary artery bypass graft surgery
  JOURNAL   J Cardiothorac Surg 17 (1), 280 (2022)
   PUBMED   36319986
  REMARK    GeneRIF: Prognostic value of high-sensitivity cardiac troponin I
            early after coronary artery bypass graft surgery. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 843)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301725
REFERENCE   6  (bases 1 to 843)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301486
REFERENCE   7  (bases 1 to 843)
  AUTHORS   MacGeoch C, Barton PJ, Vallins WJ, Bhavsar P and Spurr NK.
  TITLE     The human cardiac troponin I locus: assignment to chromosome
            19p13.2-19q13.2
  JOURNAL   Hum Genet 88 (1), 101-104 (1991)
   PUBMED   1959915
REFERENCE   8  (bases 1 to 843)
  AUTHORS   Hunkeler NM, Kullman J and Murphy AM.
  TITLE     Troponin I isoform expression in human heart
  JOURNAL   Circ Res 69 (5), 1409-1414 (1991)
   PUBMED   1934363
REFERENCE   9  (bases 1 to 843)
  AUTHORS   Mittmann K, Jaquet K and Heilmeyer LM Jr.
  TITLE     A common motif of two adjacent phosphoserines in bovine, rabbit and
            human cardiac troponin I
  JOURNAL   FEBS Lett 273 (1-2), 41-45 (1990)
   PUBMED   2226863
REFERENCE   10  (bases 1 to 843)
  AUTHORS   Vallins WJ, Brand NJ, Dabhade N, Butler-Browne G, Yacoub MH and
            Barton PJ.
  TITLE     Molecular cloning of human cardiac troponin I using polymerase chain
            reaction
  JOURNAL   FEBS Lett 270 (1-2), 57-61 (1990)
   PUBMED   2226790
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK223451.1, EU747720.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2151741,
            SAMEA2154361 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related         :: relevant for COVID-19 prognosis
            MANE Ensembl match          :: ENST00000344887.10/ ENSP00000341838.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK223451.1.
            On May 17, 2019 this sequence version replaced NM_000363.4.
            Summary: Troponin I (TnI), along with troponin T (TnT) and troponin
            C (TnC), is one of 3 subunits that form the troponin complex of the
            thin filaments of striated muscle. TnI is the inhibitory subunit;
            blocking actin-myosin interactions and thereby mediating striated
            muscle relaxation. The TnI subfamily contains three genes:
            TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and
            TnI-cardiac. This gene encodes the TnI-cardiac protein and is
            exclusively expressed in cardiac muscle tissues. Mutations in this
            gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and
            familial restrictive cardiomyopathy (RCM). Troponin I is useful in
            making a diagnosis of heart failure, and of ischemic heart disease.
            An elevated level of troponin is also now used as indicator of
            acute myocardial injury in patients hospitalized with
            moderate/severe Coronavirus Disease 2019 (COVID-19). Such elevation
            has also been associated with higher risk of mortality in
            cardiovascular disease patients hospitalized due to COVID-19.
            [provided by RefSeq, Aug 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..843
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..843
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="troponin I3, cardiac type"
                     /db_xref="GeneID:7137"
                     /db_xref="HGNC:HGNC:11947"
                     /db_xref="MIM:191044"
     CDS             144..776
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="troponin I type 3 (cardiac); cardiomyopathy, dilated
                     2A (autosomal recessive)"
                     /codon_start=1
                     /product="troponin I, cardiac muscle"
                     /protein_id="NP_000354.4"
                     /db_xref="CCDS:CCDS42628.1"
                     /db_xref="GeneID:7137"
                     /db_xref="HGNC:HGNC:11947"
                     /db_xref="MIM:191044"
                     /translation="MADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASR
                     KLQLKTLLLQIAKQELEREAEERRGEKGRALSTRCQPLELAGLGFAELQDLCRQLHARV
                     DKVDEERYDIEAKVTKNITEIADLTQKIFDLRGKFKRPTLRRVRISADAMMQALLGARA
                     KESLDLRAHLKQVKKEDTEKENREVGDWRKNIDALSGMEGRKKKFES"
     misc_feature    144..272
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P19429.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    147..149
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000269|PubMed:2226863; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); acetylation site"
     misc_feature    156..158
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:22972900; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     misc_feature    159..161
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:22972900; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     misc_feature    210..212
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphoserine, by PKA and PKD/PRKD1.
                     /evidence=ECO:0000269|PubMed:15514163,
                     ECO:0000269|PubMed:2226863, ECO:0000269|PubMed:22972900,
                     ECO:0000269|PubMed:9346285; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     misc_feature    213..215
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphoserine, by PKA and PKD/PRKD1.
                     /evidence=ECO:0000269|PubMed:15514163,
                     ECO:0000269|PubMed:2226863, ECO:0000269|PubMed:22972900,
                     ECO:0000269|PubMed:9346285; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     misc_feature    219..221
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:22972900; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     misc_feature    234..236
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphothreonine, by STK4/MST1.
                     /evidence=ECO:0000269|PubMed:18986304; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     misc_feature    237..380
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P19429.3);
                     Region: Involved in binding TNC"
     misc_feature    267..269
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphoserine, by PKC/PRKCE.
                     /evidence=ECO:0000250|UniProtKB:P48787; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     misc_feature    273..275
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphoserine, by PKC/PRKCE.
                     /evidence=ECO:0000250|UniProtKB:P48787; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     misc_feature    294..296
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphothreonine, by STK4/MST1.
                     /evidence=ECO:0000269|PubMed:18986304,
                     ECO:0000269|PubMed:22972900; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     misc_feature    372..374
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:22972900; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     misc_feature    375..377
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:22972900; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     misc_feature    381..383
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Involved in TNI-TNT interactions; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); other site"
     misc_feature    432..434
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Involved in TNI-TNT interactions; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); other site"
     misc_feature    528..590
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P19429.3);
                     Region: Involved in binding TNC and actin"
     misc_feature    528..530
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphothreonine, by STK4/MST1.
                     /evidence=ECO:0000269|PubMed:18986304; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     misc_feature    570..572
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphothreonine, by STK4/MST1.
                     /evidence=ECO:0000269|PubMed:18986304,
                     ECO:0000269|PubMed:22972900; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     misc_feature    591..593
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphoserine, by PAK3.
                     /evidence=ECO:0000269|PubMed:12242269; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     misc_feature    639..641
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:22972900; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     misc_feature    684..686
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:22972900; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     misc_feature    738..740
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:22972900; propagated from
                     UniProtKB/Swiss-Prot (P19429.3); phosphorylation site"
     regulatory      819..824
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="hexamer: AATAAA"
     polyA_site      843
                     /gene="TNNI3"
                     /gene_synonym="CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1"
                     /note="major polyA site"
ORIGIN
        1 agtgtcctcg gggagtctca agcagcccgg aggagactga cggtccctgg gaccctgaag
       61 gtcacccggg cggccccctc actgaccctc caaacgcccc tgtcctcgcc ctgcctcctg
      121 ccattcccgg cctgagtctc agcatggcgg atgggagcag cgatgcggct agggaacctc
      181 gccctgcacc agccccaatc agacgccgct cctccaacta ccgcgcttat gccacggagc
      241 cgcacgccaa gaaaaaatct aagatctccg cctcgagaaa attgcagctg aagactctgc
      301 tgctgcagat tgcaaagcaa gagctggagc gagaggcgga ggagcggcgc ggagagaagg
      361 ggcgcgctct gagcacccgc tgccagccgc tggagttggc cgggctgggc ttcgcggagc
      421 tgcaggactt gtgccgacag ctccacgccc gtgtggacaa ggtggatgaa gagagatacg
      481 acatagaggc aaaagtcacc aagaacatca cggagattgc agatctgact cagaagatct
      541 ttgaccttcg aggcaagttt aagcggccca ccctgcggag agtgaggatc tctgcagatg
      601 ccatgatgca ggcgctgctg ggggcccggg ctaaggagtc cctggacctg cgggcccacc
      661 tcaagcaggt gaagaaggag gacaccgaga aggaaaaccg ggaggtggga gactggcgca
      721 agaacatcga tgcactgagt ggaatggagg gccgcaagaa aaagtttgag agctgagcct
      781 tcctgcctac tgcccctgcc ctgaggaggg ccctgaggaa taaagcttct ctctgagctg
      841 aaa
//
LOCUS       NM_000365               1351 bp    mRNA    linear   PRI 10-APR-2023
DEFINITION  Homo sapiens triosephosphate isomerase 1 (TPI1), transcript variant
            1, mRNA.
ACCESSION   NM_000365
VERSION     NM_000365.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1351)
  AUTHORS   Stein BD, Ferrarone JR, Gardner EE, Chang JW, Wu D, Hollstein PE,
            Liang RJ, Yuan M, Chen Q, Coukos JS, Sindelar M, Ngo B, Gross SS,
            Shaw RJ, Zhang C, Asara JM, Moellering RE, Varmus H and Cantley LC.
  TITLE     LKB1-Dependent Regulation of TPI1 Creates a Divergent Metabolic
            Liability between Human and Mouse Lung Adenocarcinoma
  JOURNAL   Cancer Discov 13 (4), 1002-1025 (2023)
   PUBMED   36715544
  REMARK    GeneRIF: LKB1-Dependent Regulation of TPI1 Creates a Divergent
            Metabolic Liability between Human and Mouse Lung Adenocarcinoma.
REFERENCE   2  (bases 1 to 1351)
  AUTHORS   Jin X, Wang D, Lei M, Guo Y, Cui Y, Chen F, Sun W and Chen X.
  TITLE     TPI1 activates the PI3K/AKT/mTOR signaling pathway to induce breast
            cancer progression by stabilizing CDCA5
  JOURNAL   J Transl Med 20 (1), 191 (2022)
   PUBMED   35509067
  REMARK    GeneRIF: TPI1 activates the PI3K/AKT/mTOR signaling pathway to
            induce breast cancer progression by stabilizing CDCA5. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 1351)
  AUTHORS   Humphries A, Ationu A, Wild B and Layton DM.
  TITLE     The consequence of nucleotide substitutions in the triosephosphate
            isomerase (TPI) gene promoter
  JOURNAL   Blood Cells Mol Dis 25 (3-4), 210-217 (1999)
   PUBMED   10575546
REFERENCE   4  (bases 1 to 1351)
  AUTHORS   Ji H, Reid GE, Moritz RL, Eddes JS, Burgess AW and Simpson RJ.
  TITLE     A two-dimensional gel database of human colon carcinoma proteins
  JOURNAL   Electrophoresis 18 (3-4), 605-613 (1997)
   PUBMED   9150948
REFERENCE   5  (bases 1 to 1351)
  AUTHORS   Rasmussen RK, Ji H, Eddes JS, Moritz RL, Reid GE, Simpson RJ and
            Dorow DS.
  TITLE     Two-dimensional electrophoretic analysis of human breast carcinoma
            proteins: mapping of proteins that bind to the SH3 domain of mixed
            lineage kinase MLK2
  JOURNAL   Electrophoresis 18 (3-4), 588-598 (1997)
   PUBMED   9150946
REFERENCE   6  (bases 1 to 1351)
  AUTHORS   Boyer TG and Maquat LE.
  TITLE     Minimal sequence and factor requirements for the initiation of
            transcription from an atypical, TATATAA box-containing housekeeping
            promoter
  JOURNAL   J Biol Chem 265 (33), 20524-20532 (1990)
   PUBMED   2243103
REFERENCE   7  (bases 1 to 1351)
  AUTHORS   Boyer TG, Krug JR and Maquat LE.
  TITLE     Transcriptional regulatory sequences of the housekeeping gene for
            human triosephosphate isomerase
  JOURNAL   J Biol Chem 264 (9), 5177-5187 (1989)
   PUBMED   2925688
REFERENCE   8  (bases 1 to 1351)
  AUTHORS   Brown,J.R., Daar,I.O., Krug,J.R. and Maquat,L.E.
  TITLE     Characterization of the functional gene and several processed
            pseudogenes in the human triosephosphate isomerase gene family
  JOURNAL   Mol Cell Biol 5 (7), 1694-1706 (1985)
   PUBMED   4022011
REFERENCE   9  (bases 1 to 1351)
  AUTHORS   Maquat,L.E., Chilcote,R. and Ryan,P.M.
  TITLE     Human triosephosphate isomerase cDNA and protein structure. Studies
            of triosephosphate isomerase deficiency in man
  JOURNAL   J Biol Chem 260 (6), 3748-3753 (1985)
   PUBMED   2579079
REFERENCE   10  (bases 1 to 1351)
  AUTHORS   Rethore,M.O., Kaplan,J.C., Junien,C. and Lejeune,J.
  TITLE     12pter to 12p12.2: possible assignment of human triose phosphate
            isomerase
  JOURNAL   Hum Genet 36 (2), 235-237 (1977)
   PUBMED   858628
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: EU794668.1, BC015100.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396705.10/ ENSP00000379933.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB444195.1, BC009329.2,
            AK222638.1 and U47924.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 6, 2019 this sequence version replaced NM_000365.5.
            Summary: This gene encodes an enzyme, consisting of two identical
            proteins, which catalyzes the isomerization of glyceraldehydes
            3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in
            glycolysis and gluconeogenesis. Mutations in this gene are
            associated with triosephosphate isomerase deficiency. Pseudogenes
            have been identified on chromosomes 1, 4, 6 and 7. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Apr 2009].
            Transcript Variant: This variant (1) encodes the predominant
            isoform (1).
            CCDS Note: This CCDS represents a TPI variant that uses an internal
            promoter compared to the CCDS53740.1 representation. Data in PMIDs
            4022011, 2925688, 2243103 and 10575546 support the presence of the
            internal promoter used by this variant. The resulting isoform is 37
            aa shorter at the N-terminus compared to the CCDS53740.1 isoform.
            N-terminal sequencing in PMIDs 9150946 and 9150948 supports the
            existence of the shorter isoform in vivo.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1351
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..1351
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="triosephosphate isomerase 1"
                     /db_xref="GeneID:7167"
                     /db_xref="HGNC:HGNC:12009"
                     /db_xref="MIM:190450"
     CDS             37..786
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /EC_number="5.3.1.1"
                     /EC_number="4.2.3.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     triose-phosphate isomerase; epididymis secretory protein Li
                     49; methylglyoxal synthase"
                     /codon_start=1
                     /product="triosephosphate isomerase isoform 1"
                     /protein_id="NP_000356.1"
                     /db_xref="CCDS:CCDS8566.1"
                     /db_xref="GeneID:7167"
                     /db_xref="HGNC:HGNC:12009"
                     /db_xref="MIM:190450"
                     /translation="MAPSRKFFVGGNWKMNGRKQSLGELIGTLNAAKVPADTEVVCAPP
                     TAYIDFARQKLDPKIAVAAQNCYKVTNGAFTGEISPGMIKDCGATWVVLGHSERRHVFG
                     ESDELIGQKVAHALAEGLGVIACIGEKLDEREAGITEKVVFEQTKVIADNVKDWSKVVL
                     AYEPVWAIGTGKTATPQQAQEVHEKLRGWLKSNVSDAVAQSTRIIYGGSVTGATCKELA
                     SQPDVDGFLVGGASLKPEFVDIINAKQ"
     misc_feature    76..78
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P60174.4); acetylation site"
     misc_feature    97..99
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16807684,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:17693683,
                     ECO:0007744|PubMed:17924679, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19367720, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P60174.4);
                     phosphorylation site"
     misc_feature    274..276
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P60174.4); phosphorylation site"
     misc_feature    352..354
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48500; propagated from
                     UniProtKB/Swiss-Prot (P60174.4); phosphorylation site"
     misc_feature    502..504
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P17751; propagated from
                     UniProtKB/Swiss-Prot (P60174.4); acetylation site"
     misc_feature    511..513
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P17751; propagated from
                     UniProtKB/Swiss-Prot (P60174.4); phosphorylation site"
     misc_feature    553..555
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P17751; propagated from
                     UniProtKB/Swiss-Prot (P60174.4); phosphorylation site"
     misc_feature    616..618
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P60174.4); acetylation site"
     misc_feature    616..618
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P60174.4); methylation site"
     misc_feature    628..630
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48500; propagated from
                     UniProtKB/Swiss-Prot (P60174.4); phosphorylation site"
     misc_feature    670..672
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P60174.4); phosphorylation site"
     misc_feature    676..678
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P60174.4); phosphorylation site"
     misc_feature    703..705
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P60174.4); phosphorylation site"
     misc_feature    748..750
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P60174.4); acetylation site"
     regulatory      1214..1219
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="hexamer: AATAAA"
     polyA_site      1231
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="major polyA site"
     regulatory      1326..1331
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
                     /note="hexamer: AACAAG"
     polyA_site      1351
                     /gene="TPI1"
                     /gene_synonym="HEL-S-49; TIM; TPI; TPID"
ORIGIN
        1 gcagacactg accttcagcg cctcggctcc agcgccatgg cgccctccag gaagttcttc
       61 gttgggggaa actggaagat gaacgggcgg aagcagagtc tgggggagct catcggcact
      121 ctgaacgcgg ccaaggtgcc ggccgacacc gaggtggttt gtgctccccc tactgcctat
      181 atcgacttcg cccggcagaa gctagatccc aagattgctg tggctgcgca gaactgctac
      241 aaagtgacta atggggcttt tactggggag atcagccctg gcatgatcaa agactgcgga
      301 gccacgtggg tggtcctggg gcactcagag agaaggcatg tctttgggga gtcagatgag
      361 ctgattgggc agaaagtggc ccatgctctg gcagagggac tcggagtaat cgcctgcatt
      421 ggggagaagc tagatgaaag ggaagctggc atcactgaga aggttgtttt cgagcagaca
      481 aaggtcatcg cagataacgt gaaggactgg agcaaggtcg tcctggccta tgagcctgtg
      541 tgggccattg gtactggcaa gactgcaaca ccccaacagg cccaggaagt acacgagaag
      601 ctccgaggat ggctgaagtc caacgtctct gatgcggtgg ctcagagcac ccgtatcatt
      661 tatggaggct ctgtgactgg ggcaacctgc aaggagctgg ccagccagcc tgatgtggat
      721 ggcttccttg tgggtggtgc ttccctcaag cccgaattcg tggacatcat caatgccaaa
      781 caatgagccc catccatctt ccctaccctt cctgccaagc cagggactaa gcagcccaga
      841 agcccagtaa ctgccctttc cctgcatatg cttctgatgg tgtcatctgc tccttcctgt
      901 ggcctcatcc aaactgtatc ttcctttact gtttatatct tcaccctgta atggttggga
      961 ccaggccaat cccttctcca cttactataa tggttggaac taaacgtcac caaggtggct
     1021 tctccttggc tgagagatgg aaggcgtggt gggatttgct cctgggttcc ctaggcccta
     1081 gtgagggcag aagagaaacc atcctctccc ttcttacacc gtgaggccaa gatcccctca
     1141 gaaggcagga gtgctgccct ctcccatggt gcccgtgcct ctgtgctgtg tatgtgaacc
     1201 acccatgtga gggaataaac ctggcactag gtcttgtggt ttgtctgcct tcactggact
     1261 tgcccagata atcttccttt ttgaggcagc tatataaatg atcatttgtg caagaaaaaa
     1321 aaaaaaacaa gaacaggttt ctataacaac a
//
LOCUS       NM_000367               3184 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens thiopurine S-methyltransferase (TPMT), transcript
            variant 1, mRNA.
ACCESSION   NM_000367
VERSION     NM_000367.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3184)
  AUTHORS   von Muhlenbrock C, Estay C, Covarrubias N, Miranda J and Venegas M.
  TITLE     The c.415C>T polymorphism in NUDT15 is more frequent than the
            polymorphisms in TPMT in Chilean patients who use thiopurine drugs
  JOURNAL   Pharmacogenet Genomics 33 (7), 161-163 (2023)
   PUBMED   37556121
  REMARK    GeneRIF: The c.415C>T polymorphism in NUDT15 is more frequent than
            the polymorphisms in TPMT in Chilean patients who use thiopurine
            drugs.
REFERENCE   2  (bases 1 to 3184)
  AUTHORS   Siemens A, Brooks B, Rassekh SR, Meijer AJM, van den Heuvel-Eibrink
            MM, Xu W, Loucks CM, Ross CJD and Carleton BC.
  CONSRTM   Canadian Pharmacogenomics Network for Drug Safety Consortium
  TITLE     Role of Cisplatin Dose Intensity and TPMT Variation in the
            Development of Hearing Loss in Children
  JOURNAL   Ther Drug Monit 45 (3), 345-353 (2023)
   PUBMED   36917731
  REMARK    GeneRIF: Role of Cisplatin Dose Intensity and TPMT Variation in the
            Development of Hearing Loss in Children.
REFERENCE   3  (bases 1 to 3184)
  AUTHORS   Mora Y, Villegas C, Mora YM and Moreno N.
  TITLE     TPMT gene polymorphisms (c.238G>C, c.460G>A and c.719A>G) in a
            healthy Venezuelan population
  JOURNAL   Pharmacogenomics 24 (4), 219-225 (2023)
   PUBMED   36946340
  REMARK    GeneRIF: TPMT gene polymorphisms (c.238G>C, c.460G>A and c.719A>G)
            in a healthy Venezuelan population.
REFERENCE   4  (bases 1 to 3184)
  AUTHORS   Pristup J, Schaeffeler E, Arjune S, Hofmann U, Angel
            Santamaria-Araujo J, Leuthold P, Friedrich N, Nauck M, Mayr S, Haag
            M, Muerdter T, Marner FJ, Relling MV, Evans WE, Schwarz G and Schwab
            M.
  TITLE     Molybdenum Cofactor Catabolism Unravels the Physiological Role of
            the Drug Metabolizing Enzyme Thiopurine S-Methyltransferase
  JOURNAL   Clin Pharmacol Ther 112 (4), 808-816 (2022)
   PUBMED   35538648
  REMARK    GeneRIF: Molybdenum Cofactor Catabolism Unravels the Physiological
            Role of the Drug Metabolizing Enzyme Thiopurine S-Methyltransferase.
REFERENCE   5  (bases 1 to 3184)
  AUTHORS   Okada Y, Nakamura K, Wada M, Nakamura T, Tsukamoto N, Nojima Y,
            Horiuchi R and Yamamoto K.
  TITLE     Genotyping of thiopurine methyltransferase using pyrosequencing
  JOURNAL   Biol Pharm Bull 28 (4), 677-681 (2005)
   PUBMED   15802809
  REMARK    GeneRIF: Observational study of genetic testing. (HuGE Navigator)
REFERENCE   6  (bases 1 to 3184)
  AUTHORS   Szumlanski C, Otterness D, Her C, Lee D, Brandriff B, Kelsell D,
            Spurr N, Lennard L, Wieben E and Weinshilboum R.
  TITLE     Thiopurine methyltransferase pharmacogenetics: human gene cloning
            and characterization of a common polymorphism
  JOURNAL   DNA Cell Biol 15 (1), 17-30 (1996)
   PUBMED   8561894
REFERENCE   7  (bases 1 to 3184)
  AUTHORS   Lee D, Szumlanski C, Houtman J, Honchel R, Rojas K, Overhauser J,
            Wieben ED and Weinshilboum RM.
  TITLE     Thiopurine methyltransferase pharmacogenetics. Cloning of human
            liver cDNA and a processed pseudogene on human chromosome 18q21.1
  JOURNAL   Drug Metab Dispos 23 (3), 398-405 (1995)
   PUBMED   7628307
REFERENCE   8  (bases 1 to 3184)
  AUTHORS   Krynetski EY, Schuetz JD, Galpin AJ, Pui CH, Relling MV and Evans
            WE.
  TITLE     A single point mutation leading to loss of catalytic activity in
            human thiopurine S-methyltransferase
  JOURNAL   Proc Natl Acad Sci U S A 92 (4), 949-953 (1995)
   PUBMED   7862671
REFERENCE   9  (bases 1 to 3184)
  AUTHORS   Honchel R, Aksoy IA, Szumlanski C, Wood TC, Otterness DM, Wieben ED
            and Weinshilboum RM.
  TITLE     Human thiopurine methyltransferase: molecular cloning and expression
            of T84 colon carcinoma cell cDNA
  JOURNAL   Mol Pharmacol 43 (6), 878-887 (1993)
   PUBMED   8316220
REFERENCE   10  (bases 1 to 3184)
  AUTHORS   Weinshilboum,R.M., Raymond,F.A. and Pazmino,P.A.
  TITLE     Human erythrocyte thiopurine methyltransferase: radiochemical
            microassay and biochemical properties
  JOURNAL   Clin Chim Acta 85 (3), 323-333 (1978)
   PUBMED   657528
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1160053.1, S62904.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000309983.5/ ENSP00000312304.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL589723.7.
            This sequence is a reference standard in the RefSeqGene project.
            On May 20, 2020 this sequence version replaced NM_000367.4.
            Summary: This gene encodes the enzyme that metabolizes thiopurine
            drugs via S-adenosyl-L-methionine as the S-methyl donor and
            S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as
            6-mercaptopurine are used as chemotherapeutic agents. Genetic
            polymorphisms that affect this enzymatic activity are correlated
            with variations in sensitivity and toxicity to such drugs within
            individuals, causing thiopurine S-methyltransferase deficiency.
            Related pseudogenes have been identified on chromosomes 3, 18 and
            X. [provided by RefSeq, Aug 2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3184
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.3"
     gene            1..3184
                     /gene="TPMT"
                     /gene_synonym="TPMTD"
                     /note="thiopurine S-methyltransferase"
                     /db_xref="GeneID:7172"
                     /db_xref="HGNC:HGNC:12014"
                     /db_xref="MIM:187680"
     misc_feature    66..68
                     /gene="TPMT"
                     /gene_synonym="TPMTD"
                     /note="upstream in-frame stop codon"
     CDS             90..827
                     /gene="TPMT"
                     /gene_synonym="TPMTD"
                     /EC_number="2.1.1.67"
                     /note="isoform 1 is encoded by transcript variant 1;
                     S-adenosyl-L-methionine:thiopurine S-methyltransferase"
                     /codon_start=1
                     /product="thiopurine S-methyltransferase isoform 1"
                     /protein_id="NP_000358.1"
                     /db_xref="CCDS:CCDS4543.1"
                     /db_xref="GeneID:7172"
                     /db_xref="HGNC:HGNC:12014"
                     /db_xref="MIM:187680"
                     /translation="MDGTRTSLDIEEYSDTEVQKNQVLTLEEWQDKWVNGKTAFHQEQG
                     HQLLKKHLDTFLKGKSGLRVFFPLCGKAVEMKWFADRGHSVVGVEISELGIQEFFTEQN
                     LSYSEEPITEIPGTKVFKSSSGNISLYCCSIFDLPRTNIGKFDMIWDRGALVAINPGDR
                     KCYADTMFSLLGKKFQYLLCVLSYDPTKHPGPPFYVPHAEIERLFGKICNIRCLEKVDA
                     FEERHKSWGIDCLFEKLYLLTEK"
     misc_feature    129..131
                     /gene="TPMT"
                     /gene_synonym="TPMTD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P51580.1);
                     phosphorylation site"
     misc_feature    261..263
                     /gene="TPMT"
                     /gene_synonym="TPMTD"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P51580.1); acetylation site"
     regulatory      1760..1765
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPMT"
                     /gene_synonym="TPMTD"
                     /note="hexamer: AATAAA"
     polyA_site      1787
                     /gene="TPMT"
                     /gene_synonym="TPMTD"
                     /note="major polyA site"
     regulatory      3156..3161
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPMT"
                     /gene_synonym="TPMTD"
                     /note="hexamer: ATTAAA"
     polyA_site      3184
                     /gene="TPMT"
                     /gene_synonym="TPMTD"
                     /note="major polyA site"
ORIGIN
        1 gtcattggtg gcggaggcaa tggccggcaa ccagctgtaa gcgaggcacg gaagacatat
       61 gcttgtgaga caaaggtgtc tctgaaacta tggatggtac aagaacttca cttgacattg
      121 aagagtactc ggatactgag gtacagaaaa accaagtact aactctggaa gaatggcaag
      181 acaagtgggt gaacggcaag actgcttttc atcaggaaca aggacatcag ctattaaaga
      241 agcatttaga tactttcctt aaaggcaaga gtggactgag ggtatttttt cctctttgcg
      301 gaaaagcggt tgagatgaaa tggtttgcag accggggaca cagtgtagtt ggtgtggaaa
      361 tcagtgaact tgggatacaa gaatttttta cagagcagaa tctttcttac tcagaagaac
      421 caatcaccga aattcctgga accaaagtat ttaagagttc ttcggggaac atttcattgt
      481 actgttgcag tatttttgat cttcccagga caaatattgg caaatttgac atgatttggg
      541 atagaggagc attagttgcc atcaatccag gtgatcgcaa atgctatgca gatacaatgt
      601 tttccctcct gggaaagaag tttcagtatc tcctgtgtgt tctttcttat gatccaacta
      661 aacatccagg tccaccattt tatgttccac atgctgaaat tgaaaggttg tttggtaaaa
      721 tatgcaatat acgttgtctt gagaaggttg atgcttttga agaacgacat aaaagttggg
      781 gaattgactg tctttttgaa aagttatatc tacttacaga aaagtaaatg agacatagat
      841 aaaataaaat cacactgaca tgtttttgag gaattgaaaa ttatgctaaa gcctgaaaat
      901 gtaatggatg aatttttaaa attgtttata aatcatatga tagatcttta ctaaaaatgg
      961 ctttttagta aagccattta ctttttctaa aaaagtttta gaagaaaaag atgtaactaa
     1021 acttttaaag tagctccttt ggagaggaga ttatgatgtg aaagattatg cctatgtgtc
     1081 ttgcagattg caagatattt taccaatcag catgtgttac ctgtacaatt aaaaaaatat
     1141 ttcaaaatgc aatgcatatt aaatataata cacacagaaa aactggcatt tattttgttt
     1201 tatttttttg agatggagtt tcgttcttgt tgcccaacct ggagtgcaat ggtgcaatct
     1261 cagctcactg caacctctgc ctcccaggtt caggtgattc tcctgcctca gcctcctgag
     1321 tagctgggat tacaggtgtg cgccaccacg cccagctaat tttttgtatt tttagtagag
     1381 acagggtttc accatgttgg tcaggctgat ctcgagctcc tgacctcagg tgatctaccc
     1441 acctcggcct cccaaagtgc tgggattaca ggcgtgagcc actgcacctg gcctgacatt
     1501 ctttatgaaa tttagaattg ttgaagaact ataacatttc agtagggttc aaggtggtcc
     1561 caaaagttat ataaaagatt agtttttact ataaaccctt gtcttttact cagatcctag
     1621 catccctttt cacatggttt ctccatgtat ataacagaat caagaaacaa attttaatta
     1681 aacaatctgt aacagaatca agaaacaaat acattttaat taaacaatct atatggaaca
     1741 aacattccca aattctaaga ataaattttt ctttaagttt tctctgagtt tggcaattgt
     1801 tgttttttat aatttaatct gtttaaatca tcaggtctta taaaatataa tgtacttaga
     1861 gctggattca tggctgttta ttatgaaagg ttagatttct cagttcttct ttaaccacat
     1921 tttgttatat cagacagtcc tctataactc tgtactaccc aacaactaaa tggtttagat
     1981 tgtttagctc atgttaatag gatggttgtg tattataaaa aacgagttac gtgtgtgtgt
     2041 gcacgcatgc acgcacatgt gctggcttaa aggttgttaa tgcaaggttt ggggtcccct
     2101 ttaacactgg tgaaagctac ggtactctcc ccagagatat gtcttgtcag cctctctagt
     2161 tccccttggc ctgcatgtac aaacttctac cctagaagct ctctgccatc gatgtattct
     2221 aatagatttg taaggctatt aatttgaagc aactccttgc tcacagtgat tcttgcttct
     2281 ctgagacctg ctcccagtcg atactgtggg cttcagaagc catgactccc caactctgcc
     2341 tgtatcaccg gttgaatgga caactaaccc gagctggacc aacacaattc tctccagaga
     2401 cttttgattt tacttttatg tagagacagg gtctcacttt gttgcccacg ctgatgttga
     2461 acttgacgtg aggcctcaag cagtcctcct gtcttggcca cccaaagtgc taggattaca
     2521 ggtatgagcc attgcgctgg ccctcttcat aggcttttgg acttgggaat agaaaagcaa
     2581 ccccgtctct actaaaaata caaaaaaatt agccaggcgt ggtggcacgt gcctgtaatc
     2641 ccagctactt gggaggctga ggcaggagaa tcacttgaac ctaggaggcg gaggttgcag
     2701 tgagctgaga tcatgccact gcacgcaagc ctgggcaaca gagcaagact ctgtctcaaa
     2761 agaaagaaaa agaaaagaaa aaaaagaaag gcaagttgac tgctgaaagg ggaatctgtg
     2821 tacgcctggg agctgtgggg cagccacatt ccagcacatg gatctgagaa acagaacgct
     2881 gatctgcaga aagagatgag aaccaaagag aggccacctg cgtcctgggt ccattttcat
     2941 cctccctgaa gcccagctgc ccagggtggg gagaaacacc ctgtgtccat gggatagagt
     3001 cctttccgct tgcagttgtg cccaaagaat cttaaataca aatgagatat ccttaggtag
     3061 ttgatcattt atgtaatatg tgtcttcact ggggaatact gacttcctaa aatctcaaga
     3121 tggaagatat accacatgta aattatttta gagcaattaa attgttttca ggattttcca
     3181 aaaa
//
LOCUS       NM_000368               8598 bp    mRNA    linear   PRI 09-JUL-2023
DEFINITION  Homo sapiens TSC complex subunit 1 (TSC1), transcript variant 1,
            mRNA.
ACCESSION   NM_000368
VERSION     NM_000368.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8598)
  AUTHORS   Adriaanse BA, Brady S, Wang M, Beard DJ, Spencer JI, Pansieri J,
            Sutherland BA, Esiri MM, Buchan AM, Cader Z, Zhang B and DeLuca GC.
  TITLE     Tuberous sclerosis complex-1 (TSC1) contributes to selective
            neuronal vulnerability in Alzheimer's disease
  JOURNAL   Neuropathol Appl Neurobiol 49 (3), e12904 (2023)
   PUBMED   37020385
  REMARK    GeneRIF: Tuberous sclerosis complex-1 (TSC1) contributes to
            selective neuronal vulnerability in Alzheimer's disease.
REFERENCE   2  (bases 1 to 8598)
  AUTHORS   Trpkov K.
  TITLE     TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a
            Heterogeneous Clinicopathologic Spectrum : Several Distinct Entities
            or a Tumor Family?
  JOURNAL   Am J Surg Pathol 47 (4), 518-519 (2023)
   PUBMED   36727758
  REMARK    GeneRIF: TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a
            Heterogeneous Clinicopathologic Spectrum : Several Distinct Entities
            or a Tumor Family?
REFERENCE   3  (bases 1 to 8598)
  AUTHORS   Ryu S, Kang HC, Lee SC, Byeon SH, Kim SS and Lee CS.
  TITLE     Refractive Errors, Retinal Findings, and Genotype of Tuberous
            Sclerosis Complex: A Retrospective Cohort Study
  JOURNAL   Yonsei Med J 64 (2), 133-138 (2023)
   PUBMED   36719021
  REMARK    GeneRIF: Refractive Errors, Retinal Findings, and Genotype of
            Tuberous Sclerosis Complex: A Retrospective Cohort Study.
REFERENCE   4  (bases 1 to 8598)
  AUTHORS   Huang J and Manning BD.
  TITLE     The TSC1-TSC2 complex: a molecular switchboard controlling cell
            growth
  JOURNAL   Biochem J 412 (2), 179-190 (2008)
   PUBMED   18466115
  REMARK    Review article
REFERENCE   5  (bases 1 to 8598)
  AUTHORS   Huang J, Dibble CC, Matsuzaki M and Manning BD.
  TITLE     The TSC1-TSC2 complex is required for proper activation of mTOR
            complex 2
  JOURNAL   Mol Cell Biol 28 (12), 4104-4115 (2008)
   PUBMED   18411301
  REMARK    GeneRIF: the TSC1-TSC2 complex inhibits mTORC1 and activates mTORC2,
            which through different mechanisms promotes Akt activation
REFERENCE   6  (bases 1 to 8598)
  AUTHORS   Plank TL, Yeung RS and Henske EP.
  TITLE     Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene,
            interacts with tuberin and appears to be localized to cytoplasmic
            vesicles
  JOURNAL   Cancer Res 58 (21), 4766-4770 (1998)
   PUBMED   9809973
REFERENCE   7  (bases 1 to 8598)
  AUTHORS   van Slegtenhorst M, Nellist M, Nagelkerken B, Cheadle J, Snell R,
            van den Ouweland A, Reuser A, Sampson J, Halley D and van der Sluijs
            P.
  TITLE     Interaction between hamartin and tuberin, the TSC1 and TSC2 gene
            products
  JOURNAL   Hum Mol Genet 7 (6), 1053-1057 (1998)
   PUBMED   9580671
REFERENCE   8  (bases 1 to 8598)
  AUTHORS   Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA,
            Krawczak M, Sampson JR and Cheadle JP.
  TITLE     Molecular genetic and phenotypic analysis reveals differences
            between TSC1 and TSC2 associated familial and sporadic tuberous
            sclerosis
  JOURNAL   Hum Mol Genet 6 (12), 2155-2161 (1997)
   PUBMED   9328481
REFERENCE   9  (bases 1 to 8598)
  AUTHORS   van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B,
            Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley
            M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J,
            Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M,
            Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C,
            Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR, Kwiatkowska
            J, Henske EP, Short MP, Haines JH, Jozwiak S and Kwiatkowski DJ.
  TITLE     Identification of the tuberous sclerosis gene TSC1 on chromosome
            9q34
  JOURNAL   Science 277 (5327), 805-808 (1997)
   PUBMED   9242607
REFERENCE   10  (bases 1 to 8598)
  AUTHORS   Northrup,H., Koenig,M.K., Pearson,D.A. and Au,K.S.
  TITLE     Tuberous Sclerosis Complex
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301399
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.2628004.1, AF013168.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000298552.9/ ENSP00000298552.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC070032.1, AF013168.1,
            D87683.1 and N63914.1.
            On Aug 31, 2019 this sequence version replaced NM_000368.4.
            Summary: This gene is a tumor suppressor gene that encodes the
            growth inhibitory protein hamartin. The encoded protein interacts
            with and stabilizes the GTPase activating protein tuberin. This
            hamartin-tuberin complex negatively regulates mammalian target of
            rapamycin complex 1 (mTORC1) signaling which is a major regulator
            of anabolic cell growth. This protein also functions as a
            co-chaperone for Hsp90 that inhibits its ATPase activity. This
            protein functions as a facilitator of Hsp90-mediated folding of
            kinase and non-kinase clients, including TSC2 and thereby
            preventing their ubiquitination and proteasomal degradation.
            Mutations in this gene have been associated with tuberous sclerosis
            and lymphangioleiomyomatosis. [provided by RefSeq, May 2022].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..8598
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.13"
     gene            1..8598
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /note="TSC complex subunit 1"
                     /db_xref="GeneID:7248"
                     /db_xref="HGNC:HGNC:12362"
                     /db_xref="MIM:605284"
     misc_feature    155..157
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /note="upstream in-frame stop codon"
     CDS             218..3712
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hamartin; tuberous sclerosis 1 protein"
                     /codon_start=1
                     /product="hamartin isoform 1"
                     /protein_id="NP_000359.1"
                     /db_xref="CCDS:CCDS6956.1"
                     /db_xref="GeneID:7248"
                     /db_xref="HGNC:HGNC:12362"
                     /db_xref="MIM:605284"
                     /translation="MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTL
                     VDYYLETSSQPALHILTTLQEPHDKHLLDRINEYVGKAATRLSILSLLGHVIRLQPSWK
                     HKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSS
                     WCLKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKP
                     MMEHVRIHPELVTGSKDHELDPRRWKRLETHDVVIECAKISLDPTEASYEDGYSVSHQI
                     SARFPHRSADVTTSPYADTQNSYGCATSTPYSTSRLMLLNMPGQLPQTLSSPSTRLITE
                     PPQATLWSPSMVCGMTTPPTSPGNVPPDLSHPYSKVFGTTAGGKGTPLGTPATSPPPAP
                     LCHSDDYVHISLPQATVTPPRKEERMDSARPCLHRQHHLLNDRGSEEPPGSKGSVTLSD
                     LPGFLGDLASEEDSIEKDKEEAAISRELSEITTAEAEPVVPRGGFDSPFYRDSLPGSQR
                     KTHSAASSSQGASVNPEPLHSSLDKLGPDTPKQAFTPIDLPCGSADESPAGDRECQTSL
                     ETSIFTPSPCKIPPPTRVGFGSGQPPPYDHLFEVALPKTAHHFVIRKTEELLKKAKGNT
                     EEDGVPSTSPMEVLDRLIQQGADAHSKELNKLPLPSKSVDWTHFGGSPPSDEIRTLRDQ
                     LLLLHNQLLYERFKRQQHALRNRRLLRKVIKAAALEEHNAAMKDQLKLQEKDIQMWKVS
                     LQKEQARYNQLQEQRDTMVTKLHSQIRQLQHDREEFYNQSQELQTKLEDCRNMIAELRI
                     ELKKANNKVCHTELLLSQVSQKLSNSESVQQQMEFLNRQLLVLGEVNELYLEQLQNKHS
                     DTTKEVEMMKAAYRKELEKNRSHVLQQTQRLDTSQKRILELESHLAKKDHLLLEQKKYL
                     EDVKLQARGQLQAAESRYEAQKRITQVFELEILDLYGRLEKDGLLKKLEEEKAEAAEAA
                     EERLDCCNDGCSDSMVGHNEEASGHNGETKTPRPSSARGSSGSRGGGGSSSSSSELSTP
                     EKPPHQRAGPFSSRWETTMGEASASIPTTVGSLPSSKSFLGMKARELFRNKSESQCDED
                     GMTSSLSESLKTELGKDLGVEAKIPLNLDGPHPSPPTPDSVGQLHIMDYNETHHEHS"
     misc_feature    1424..2578
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92574.2);
                     Region: Mediates interaction with WDR45B.
                     /evidence=ECO:0000269|PubMed:28561066"
     misc_feature    1532..1930
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92574.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1676..1678
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92574.2); phosphorylation site"
     misc_feature    1730..1732
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15963462,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92574.2); phosphorylation site"
     misc_feature    1748..1750
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q92574.2); phosphorylation site"
     misc_feature    1778..1780
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92574.2); phosphorylation site"
     misc_feature    2009..2011
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q92574.2); phosphorylation site"
     misc_feature    3233..3472
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92574.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3515..3517
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92574.2); phosphorylation site"
     misc_feature    3608..3709
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92574.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      8574..8579
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /note="hexamer: AATAAA"
     polyA_site      8598
                     /gene="TSC1"
                     /gene_synonym="LAM; TSC"
                     /note="major polyA site"
ORIGIN
        1 gtacgtccaa gatggcggcg ccctgtaggc tggagggact gtgaggtaaa cagctgaggg
       61 ggaggagacg gtggtgacca tgaaagacac caggttgaca gcactggaaa ctgaagtacc
      121 agttgtcgct agaacagttt ggtagtggcc ccaatgaaga accttcagaa cctgtagcac
      181 acgtcctgga gccagcacag cgccttcgag cgagagaatg gcccaacaag caaatgtcgg
      241 ggagcttctt gccatgctgg actcccccat gctgggtgtg cgggacgacg tgacagctgt
      301 ctttaaagag aacctcaatt ctgaccgtgg ccctatgctt gtaaacacct tggtggatta
      361 ttacctggaa accagctctc agccggcatt gcacatcctg accaccttgc aagagccaca
      421 tgacaagcac ctcttggaca ggattaacga atatgtgggc aaagccgcca ctcgtttatc
      481 catcctctcg ttactgggtc atgtcataag actgcagcca tcttggaagc ataagctctc
      541 tcaagcacct cttttgcctt ctttactaaa atgtctcaag atggacactg acgtcgttgt
      601 cctcacaaca ggcgtcttgg tgttgataac catgctacca atgattccac agtctgggaa
      661 acagcatctt cttgatttct ttgacatttt tggccgtctg tcatcatggt gcctgaagaa
      721 accaggccac gtggcggaag tctatctcgt ccatctccat gccagtgtgt acgcactctt
      781 tcatcgcctt tatggaatgt acccttgcaa cttcgtctcc tttttgcgtt ctcattacag
      841 tatgaaagaa aacctggaga cttttgaaga agtggtcaag ccaatgatgg agcatgtgcg
      901 aattcatccg gaattagtga ctggatccaa ggaccatgaa ctggaccctc gaaggtggaa
      961 gagattagaa actcatgatg ttgtgatcga gtgtgccaaa atctctctgg atcccacaga
     1021 agcctcatat gaagatggct attctgtgtc tcaccaaatc tcagcccgct ttcctcatcg
     1081 ttcagccgat gtcaccacca gcccttatgc tgacacacag aatagctatg ggtgtgctac
     1141 ttctacccct tactccacgt ctcggctgat gttgttaaat atgccagggc agctacctca
     1201 gactctgagt tccccatcga cacggctgat aactgaacca ccacaagcta ctctttggag
     1261 cccatctatg gtttgtggta tgaccactcc tccaacttct cctggaaatg tcccacctga
     1321 tctgtcacac ccttacagta aagtctttgg tacaactgca ggtggaaaag gaactcctct
     1381 gggaacccca gcaacctctc ctcctccagc cccactctgt cattcggatg actacgtgca
     1441 catttcactc ccccaggcca cagtcacacc ccccaggaag gaagagagaa tggattctgc
     1501 aagaccatgt ctacacagac aacaccatct tctgaatgac agaggatcag aagagccacc
     1561 tggcagcaaa ggttctgtca ctctaagtga tcttccaggg tttttaggtg atctggcctc
     1621 tgaagaagat agtattgaaa aagataaaga agaagctgca atatctagag aactttctga
     1681 gatcaccaca gcagaggcag agcctgtggt tcctcgagga ggctttgact ctccctttta
     1741 ccgagacagt ctcccaggtt ctcagcggaa gacccactcg gcagcctcca gttctcaggg
     1801 cgccagcgtg aaccctgagc ctttacactc ctccctggac aagcttgggc ctgacacacc
     1861 aaagcaagcc tttactccca tagacctgcc ctgcggcagt gctgatgaaa gccctgcggg
     1921 agacagggaa tgccagactt ctttggagac cagtatcttc actcccagtc cttgtaaaat
     1981 tccacctccg acgagagtgg gctttggaag cgggcagcct cccccgtatg atcatctttt
     2041 tgaggtggca ttgccaaaga cagcccatca ttttgtcatc aggaagactg aggagctgtt
     2101 aaagaaagca aaaggaaaca cagaggaaga tggtgtgccc tctacctccc caatggaagt
     2161 gctggacaga ctgatacagc agggagcaga cgcgcacagc aaggagctga acaagttgcc
     2221 tttacccagc aagtctgtcg actggaccca ctttggaggc tctcctcctt cagatgagat
     2281 ccgcaccctc cgagaccagt tgcttttact gcacaaccag ttactctatg agcgttttaa
     2341 gaggcagcag catgccctcc ggaacaggcg gctcctccgc aaggtgatca aagcagcagc
     2401 tctggaggaa cataatgctg ccatgaaaga tcagttgaag ttacaagaga aggacatcca
     2461 gatgtggaag gttagtctgc agaaagaaca agctagatac aatcagctcc aggagcagcg
     2521 tgacactatg gtaaccaagc tccacagcca gatcagacag ctgcagcatg accgagagga
     2581 attctacaac cagagccagg aattacagac gaagctggag gactgcagga acatgattgc
     2641 ggagctgcgg atagaactga agaaggccaa caacaaggtg tgtcacactg agctgctgct
     2701 cagtcaggtt tcccaaaagc tctcaaacag tgagtcggtc cagcagcaga tggagttctt
     2761 gaacaggcag ctgttggttc ttggggaggt caacgagctc tatttggaac aactgcagaa
     2821 caagcactca gataccacaa aggaagtaga aatgatgaaa gccgcctatc ggaaagagct
     2881 agaaaaaaac agaagccatg ttctccagca gactcagagg cttgatacct cccaaaaacg
     2941 gattttggaa ctggaatctc acctggccaa gaaagaccac cttcttttgg aacagaagaa
     3001 atatctagag gatgtcaaac tccaggcaag aggacagctg caggccgcag agagcaggta
     3061 tgaggctcag aaaaggataa cccaggtgtt tgaattggag atcttagatt tatatggcag
     3121 gttggagaaa gatggcctcc tgaaaaaact tgaagaagaa aaagcagaag cagctgaagc
     3181 agcagaagaa aggcttgact gttgtaatga cgggtgctca gattccatgg tagggcacaa
     3241 tgaagaggca tctggccaca acggtgagac caagaccccc aggcccagca gcgcccgggg
     3301 cagtagtgga agcagaggtg gtggaggcag cagcagcagc agcagcgagc tttctacccc
     3361 agagaaaccc ccacaccaga gggcaggccc attcagcagt cggtgggaga cgactatggg
     3421 agaagcgtct gccagcatcc ccaccactgt gggctcactt cccagttcaa aaagcttcct
     3481 gggtatgaag gctcgagagt tatttcgtaa taagagcgag agccagtgtg atgaggacgg
     3541 catgaccagt agcctttctg agagcctaaa gacagaactg ggcaaagact tgggtgtgga
     3601 agccaagatt cccctgaacc tagatggccc tcacccgtct cccccgaccc cggacagtgt
     3661 tggacagcta catatcatgg actacaatga gactcatcat gaacacagct aaggaatgat
     3721 ggtcaatcag tgttaacttg catattgttg gcacagaaca ggaggtgtga atgcacgttt
     3781 caaagctttc ctgtttccag ggtctgagtg caagttcatg tgtggaaatg ggacggaggt
     3841 cctttggaca gctgactgaa tgcagaacgg tttttggatc tggcattgaa atgcctcttg
     3901 accttcccct ccacccgccc taaccccctc tcatttacct cgcagtgtgt tctaatccaa
     3961 gggccagttg gtgttcctca gtagctttac tttcttcctt tcccccccaa atggttgcgt
     4021 cctttgaacc tgtgcaatat gaggccaaat ttaatctttg agtctaacac accactttct
     4081 gctttcccga agttcagata actgggttgg ctctcaatta gaccaggtag tttgttgcat
     4141 tgcaggtaag tctggttttg tcccttccag gaggacatag cctgcaaagc tggttgtctt
     4201 tacatgaaag cgtttacatg agactttccg actgcttttt tgattctgaa gttcagcatc
     4261 taaagcagca ggtctagaag aacaacggtt tattcatact tgcattcttt tggcagttct
     4321 gataagcttc ctagaaagtt ctgtgtaaac agaagcctgt ttcagaaatc tggagctggc
     4381 actgtggaga ccacacaccc tttgggaaag ctcttgtctc ttcttccccc actacctctt
     4441 atttatttgg tgtttgcttg aatgctggta ctattgtgac cacaggctgg tgtgtaggtg
     4501 gtaaaacctg ttctccatag gagggaagga gcagtcactg ggagaggtta cccgagaagc
     4561 acttgagcat gaggaactgc acctttaggc catctcagct tgctgggcct tttgttaaac
     4621 ccttctgtct actggcctcc ctttgtgtgc atacgcctct tgttcatgtc agcttatatg
     4681 tgacactgca gcagaaaggc tctgaaggtc caaagagttt ctgcaaagtg tatgtgacca
     4741 tcatttccca ggccattagg gttgcctcac tgtagcaggt tctaggctac cagaagaggg
     4801 gcagcttttt cataccaatt ccaactttca ggggctgact ctccagggag ctgatgtcat
     4861 cacactctcc atgttagtaa tggcagagca gtctaaacag agtccgggag aatgctggca
     4921 aaggctggct gtgtataccc actaggctgc cccacgtgct cccgagagat gacactagtc
     4981 agaaaattgg cagtggcaga gaatccaaac tcaacaagtg ctcctgaaag aaacgctaga
     5041 agcctaagaa ctgtggtctg gtgttccagc tgaggcaggg ggatttggta ggaaggagcc
     5101 agtgaacttg gctttcctgt ttctatcttt cattaaaaag aatagaagga ttcagtcata
     5161 aagaggtaaa aaactgtcac ggtacgaaat cttagtgccc acggaggcct cgagcagaga
     5221 gaatgaaagt cttttttttt tttttttttt tttagcatgg caataaatat tctagcatcc
     5281 ctaactaaag gggactagac agttagagac tctgtcaccc tagctatacc agcagaaaac
     5341 ctgttcaggc aggctttctg ggtgtgactg attcccagcc tgtggcaggg cgtggtccca
     5401 actactcagc ctagcacagg ctggcagttg gtactgaatt gtcagatgtg gagtattagt
     5461 gacaccacac atttaattca gctttgtcca aaggaaagct taaaacccaa tacagtctag
     5521 tttcctggtt ccgttttaga aaaggaaaac gtgaacaaac ttagaaaggg aaggaaatcc
     5581 catcagtgaa tcctgaaact ggttttaagt gctttccttc tcctcatgcc caagagatct
     5641 gtgccataga acaagatacc aggcacttaa agccttttcc tgaattggaa aggaaaagag
     5701 gcccaagtgc aaaagaaaaa acattttaga aacggacagc ttataaaaat aaagggaaga
     5761 aaggaggcag catggagaga ggcctgtgct agaagctcca tggacgtgtc tgcacagggt
     5821 cctcagctca tccatgcggc ctgggtgtcc ttttactcag ctttataaca aatgtggctc
     5881 caagctcagg tgcctttgag ttctaggagg ctgtgggttt tattcaacta cggttgggag
     5941 aatgagacct ggagtcatgt tgaaggtgcc caacctaaaa atgtaggctt tcatgttgca
     6001 aagaactcca gagtcagtag ttaggtttgg tttggttttg gacatgataa acctgccaag
     6061 agtcaacagg tcacttgatc atgctgcagt gggtagttct aaggatggaa aggtgacagt
     6121 attactctcg agaggcaatt cagtcctggg caaaggtatt agtacaataa gcgttaaggg
     6181 cagagtctac cttgaaacca attaagcagc ttggtattca taaatattgg gattggatgg
     6241 cctccatcca gaaatcacta tgggtgagca tacctgtctc agctgtttgg ccaatgtgca
     6301 taacctactc ggatccccac ctgacactaa ccagagtcag cacaggcccc gaggagcccg
     6361 aagtctgctg ctgtgcagca tggaattcct ttaaaaaggt gcactacagt tttagcgggg
     6421 agggggatag gaagacgcag agcaaatgag ctccggagtc cctgcaggtg aataaacaca
     6481 cagatctgca tctgatagaa ctttgatgga ttttcaaaaa gccgttgaca aggctctgct
     6541 atacagtcta taaaaattgt tattatggga ttggaagaaa cacgtggtca tgaatagaaa
     6601 aaaaacaaac ccaaaggtag gaaggtcaag gtcatttctt agatggagaa gttgtgaaag
     6661 atgtccttgg agatgagttt taggaccagc attactaagg caggtgggca gacagtgacc
     6721 tctctaggtg tgtccacaga gtttttcagg agagaaaact gcctgacctt tgggactaag
     6781 ctgcggaatc ttcttactaa gcttgaagag tggagaggcg agaggtgagc tactttgtga
     6841 gccaaagctt atgtgacatg gttggggaaa cagtccaaac tgttctgaga aggtgaactg
     6901 ttacgaccca ggacaattag aaaaattcac ccaccatgcc gcacattact gggtaaaagc
     6961 agggcagcag ggaacaaaac tccagactct tgggccgtcc ccatttgcaa cagcacacat
     7021 agtttctggt atatttgttg ggaaagataa aactctagca gttgttgagg ggaggatgta
     7081 taaaatggtc atggggatga aaggatctct gagaccacag aggctcagac tcactgttaa
     7141 gaatagaaaa ctgggtatgc gtttcatgta gccagcagaa ctgaagtgtg ctgtgacaag
     7201 ccaatgtgaa tttctaccaa atagtagagc ataccacttg aagaaggaaa gaaccgaaga
     7261 gcaaacaaaa gttctgcgta atgagactca ccttttctcg ctgaaagcac taagaggtgg
     7321 gaggaggcct gcacaggctg gaggagggtt tgggcagagc gaagacccgg ccaggacctt
     7381 ggtgagatgg ggtgccgccc acctcctgcg gatactcttg gagagttgtt cccccagggg
     7441 gctctgcccc acctggagaa ggaagctgcc tggtgtggag tgactcaaat cagtatacct
     7501 atctgctgca ccttcactct ccagggtaca tgctttaaaa ccgacccgca acaagtattg
     7561 gaaaaatgta tccagtctga agatgtttgt gtatctgttt acatccagag ttctgtgaca
     7621 catgcccccc agattgctgc aaagatccca aggcattgat tgcacttgat taagcttttg
     7681 tctgtaggtg aaagaacaag tttaggtcga ggactggccc ctaggctgct gctgtgaccc
     7741 ttgtcccatg tggcttgttt gcctgtccgg gactcttcga tgtgcccagg ggagcgtgtt
     7801 cctgtctctt ccatgccgtc ctgcagtcct tatctgctcg cctgagggaa gagtagctgt
     7861 agctacaagg gaagcctgcc tggaagagcc gagcacctgt gcccatggct tctggtcatg
     7921 aaacgagtta atgatggcag aggagcttcc tccccacttc gcagcgccac attatccatc
     7981 ctctgagata agtaggctgg tttaaccatt ggaatggacc tttcagtgga aaccctgaga
     8041 gtctgagaac ccccagacca acccttccct ccctttcccc acctcttaca gtgtttggac
     8101 aggagggtat ggtgctgctc tgtgtagcaa gtactttggc ttatgaaaga ggcagccacg
     8161 cattttgcac taggaagaat cagtaatcac ttttcagaag acttctatgg accacaaata
     8221 tattacggag gaacagattt tgctaagaca taatctagtt ttataactca atcatgaatg
     8281 aaccatgtgt ggcaaacttg cagtttaaag gggtcccatc agtgaaagaa actgattttt
     8341 tttaacggac tgcttttagt taaattgaag aaagtcagct cttgtcaaaa ggtctaaact
     8401 ttcccgcctc aatcctaaaa gcatgtcaac aatccacatc agatgccata aatatgaact
     8461 gcaggataaa atggtacaat cttagtgaat gggaattgga atcaaaagag tttgctgtcc
     8521 ttcttagaat gttctaaaat gtcaaggcag ttgcttgtgt ttaactgtga acaaataaaa
     8581 atttattgtt ttgcacta
//
LOCUS       NM_000369               4308 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript
            variant 1, mRNA.
ACCESSION   NM_000369
VERSION     NM_000369.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4308)
  AUTHORS   Begum MN, Mahtarin R, Islam MT, Ahmed S, Konika TK, Mannoor K,
            Akhteruzzaman S and Qadri F.
  TITLE     Molecular investigation of TSHR gene in Bangladeshi congenital
            hypothyroid patients
  JOURNAL   PLoS One 18 (8), e0282553 (2023)
   PUBMED   37561783
  REMARK    GeneRIF: Molecular investigation of TSHR gene in Bangladeshi
            congenital hypothyroid patients. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4308)
  AUTHORS   Andrianus S, Gubbiotti MA, Mandel SJ, Nikiforov YE and Baloch Z.
  TITLE     Unraveling the significance of TSHR mutations in indeterminate
            thyroid cytology specimens
  JOURNAL   Diagn Cytopathol 51 (7), 406-413 (2023)
   PUBMED   37042127
  REMARK    GeneRIF: Unraveling the significance of TSHR mutations in
            indeterminate thyroid cytology specimens.
REFERENCE   3  (bases 1 to 4308)
  AUTHORS   Watanabe D, Yagasaki H, Mitsui Y and Inukai T.
  TITLE     Eighteen-years follow-up of congenital hypothyroidism by TSHR gene
            p.Arg109Gln and p.Arg450His variants
  JOURNAL   Nagoya J Med Sci 85 (2), 369-374 (2023)
   PUBMED   37346832
  REMARK    GeneRIF: Eighteen-years follow-up of congenital hypothyroidism by
            TSHR gene p.Arg109Gln and p.Arg450His variants.
REFERENCE   4  (bases 1 to 4308)
  AUTHORS   Shreder EV, Vadina TA, Solodovnikova EN, Zakharova VV, Degtyarev MV,
            Konyukhova MB, Sergeeva NV and Bezlepkina OB.
  TITLE     [Pathogenic TSHR variants in children with thyroid dysgenesis]
  JOURNAL   Probl Endokrinol (Mosk) 69 (1), 76-85 (2023)
   PUBMED   36842079
  REMARK    GeneRIF: [Pathogenic TSHR variants in children with thyroid
            dysgenesis]. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4308)
  AUTHORS   Whitmer D, Phay JE, Holt S, O'Donnell B, Nguyen J, Joseph D, Chi A,
            Wu S, Hao Y, Huang J, Klopper JP, Kloos RT, Kennedy GC and Shin J.
  TITLE     Risk of malignancy in cytologically indeterminate thyroid nodules
            harboring thyroid stimulating hormone receptor mutations
  JOURNAL   Front Endocrinol (Lausanne) 13, 1073592 (2022)
   PUBMED   36619548
  REMARK    GeneRIF: Risk of malignancy in cytologically indeterminate thyroid
            nodules harboring thyroid stimulating hormone receptor mutations.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4308)
  AUTHORS   Takeshita A, Nagayama Y, Fujiyama K, Yokoyama N, Namba H, Yamashita
            S, Izumi M and Nagataki S.
  TITLE     Molecular cloning and sequencing of an alternatively spliced form of
            the human thyrotropin receptor transcript
  JOURNAL   Biochem Biophys Res Commun 188 (3), 1214-1219 (1992)
   PUBMED   1445355
REFERENCE   7  (bases 1 to 4308)
  AUTHORS   Graves PN, Tomer Y and Davies TF.
  TITLE     Cloning and sequencing of a 1.3 KB variant of human thyrotropin
            receptor mRNA lacking the transmembrane domain
  JOURNAL   Biochem Biophys Res Commun 187 (2), 1135-1143 (1992)
   PUBMED   1530609
REFERENCE   8  (bases 1 to 4308)
  AUTHORS   Loosfelt H, Pichon C, Jolivet A, Misrahi M, Caillou B, Jamous M,
            Vannier B and Milgrom E.
  TITLE     Two-subunit structure of the human thyrotropin receptor
  JOURNAL   Proc Natl Acad Sci U S A 89 (9), 3765-3769 (1992)
   PUBMED   1570295
REFERENCE   9  (bases 1 to 4308)
  AUTHORS   Nagayama Y, Russo D, Wadsworth HL, Chazenbalk GD and Rapoport B.
  TITLE     Eleven amino acids (Lys-201 to Lys-211) and 9 amino acids (Gly-222
            to Leu-230) in the human thyrotropin receptor are involved in ligand
            binding
  JOURNAL   J Biol Chem 266 (23), 14926-14930 (1991)
   PUBMED   1651314
REFERENCE   10  (bases 1 to 4308)
  AUTHORS   Murakami M and Mori M.
  TITLE     Identification of immunogenic regions in human thyrotropin receptor
            for immunoglobulin G of patients with Graves' disease
  JOURNAL   Biochem Biophys Res Commun 171 (1), 512-518 (1990)
   PUBMED   1697467
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.744242.1,
            SRR14038193.1488990.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000298171.7/ ENSP00000298171.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010072.5, AC007262.4 and
            AL136040.5.
            On Mar 19, 2020 this sequence version replaced NM_000369.4.
            Summary: The protein encoded by this gene is a membrane protein and
            a major controller of thyroid cell metabolism. The encoded protein
            is a receptor for thyrothropin and thyrostimulin, and its activity
            is mediated by adenylate cyclase. Defects in this gene are a cause
            of several types of hyperthyroidism. Three transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Dec 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and it encodes the longer protein (isoform 1).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4308
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q31.1"
     gene            1..4308
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /note="thyroid stimulating hormone receptor"
                     /db_xref="GeneID:7253"
                     /db_xref="HGNC:HGNC:12373"
                     /db_xref="MIM:603372"
     misc_feature    40..42
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /note="upstream in-frame stop codon"
     CDS             61..2355
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; seven transmembrane helix receptor; thyrotropin
                     receptor-I, hTSHR-I; TSH receptor"
                     /codon_start=1
                     /product="thyrotropin receptor isoform 1 precursor"
                     /protein_id="NP_000360.2"
                     /db_xref="CCDS:CCDS9872.1"
                     /db_xref="GeneID:7253"
                     /db_xref="HGNC:HGNC:12373"
                     /db_xref="MIM:603372"
                     /translation="MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQ
                     RIPSLPPSTQTLKLIETHLRTIPSHAFSNLPNISRIYVSIDVTLQQLESHSFYNLSKVT
                     HIEIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITDNPY
                     MTSIPVNAFQGLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFG
                     GVYSGPSLLDVSQTSVTALPSKGLEHLKELIARNTWTLKKLPLSLSFLHLTRADLSYPS
                     HCCAFKNQKKIRGILESLMCNESSMQSLRQRKSVNALNSPLHQEYEENLGDSIVGYKEK
                     SKFQDTHNNAHYYVFFEEQEDEIIGFGQELKNPQEETLQAFDSHYDYTICGDSEDMVCT
                     PKSDEFNPCEDIMGYKFLRIVVWFVSLLALLGNVFVLLILLTSHYKLNVPRFLMCNLAF
                     ADFCMGMYLLLIASVDLYTHSEYYNHAIDWQTGPGCNTAGFFTVFASELSVYTLTVITL
                     ERWYAITFAMRLDRKIRLRHACAIMVGGWVCCFLLALLPLVGISSYAKVSICLPMDTET
                     PLALAYIVFVLTLNIVAFVIVCCCYVKIYITVRNPQYNPGDKDTKIAKRMAVLIFTDFI
                     CMAPISFYALSAILNKPLITVSNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFILLS
                     KFGICKRQAQAYRGQRVPPKNSTDIQVQKVTHEMRQGLHNMEDVYELIENSHLTPKKQG
                     QISEEYMQTVL"
     sig_peptide     61..123
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      3904..3909
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /note="hexamer: AATAAA"
     polyA_site      3927
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /note="major polyA site"
     regulatory      4275..4280
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /note="hexamer: AATAAA"
     polyA_site      4308
                     /gene="TSHR"
                     /gene_synonym="CHNG1; hTSHR-I; LGR3"
                     /note="major polyA site"
ORIGIN
        1 gcagagctga gaatgaggcg atttcggagg atggagaaat agccccgagt cccgtggaaa
       61 atgaggccgg cggacttgct gcagctggtg ctgctgctcg acctgcccag ggacctgggc
      121 ggaatggggt gttcgtctcc accctgcgag tgccatcagg aggaggactt cagagtcacc
      181 tgcaaggata ttcaacgcat ccccagctta ccgcccagta cgcagactct gaagcttatt
      241 gagactcacc tgagaactat tccaagtcat gcattttcta atctgcccaa tatttccaga
      301 atctacgtat ctatagatgt gactctgcag cagctggaat cacactcctt ctacaatttg
      361 agtaaagtga ctcacataga aattcggaat accaggaact taacttacat agaccctgat
      421 gccctcaaag agctccccct cctaaagttc cttggcattt tcaacactgg acttaaaatg
      481 ttccctgacc tgaccaaagt ttattccact gatatattct ttatacttga aattacagac
      541 aacccttaca tgacgtcaat ccctgtgaat gcttttcagg gactatgcaa tgaaaccttg
      601 acactgaagc tgtacaacaa tggctttact tcagtccaag gatatgcttt caatgggaca
      661 aagctggatg ctgtttacct aaacaagaat aaatacctga cagttattga caaagatgca
      721 tttggaggag tatacagtgg accaagcttg ctggacgtgt ctcaaaccag tgtcactgcc
      781 cttccatcca aaggcctgga gcacctgaag gaactgatag caagaaacac ctggactctt
      841 aagaaacttc cactttcctt gagtttcctt cacctcacac gggctgacct ttcttaccca
      901 agccactgct gtgcttttaa gaatcagaag aaaatcagag gaatccttga gtccttgatg
      961 tgtaatgaga gcagtatgca gagcttgcgc cagagaaaat ctgtgaatgc cttgaatagc
     1021 cccctccacc aggaatatga agagaatctg ggtgacagca ttgttgggta caaggaaaag
     1081 tccaagttcc aggatactca taacaacgct cattattacg tcttctttga agaacaagag
     1141 gatgagatca ttggttttgg ccaggagctc aaaaaccccc aggaagagac tctacaagct
     1201 tttgacagcc attatgacta caccatatgt ggggacagtg aagacatggt gtgtaccccc
     1261 aagtccgatg agttcaaccc gtgtgaagac ataatgggct acaagttcct gagaattgtg
     1321 gtgtggttcg ttagtctgct ggctctcctg ggcaatgtct ttgtcctgct tattctcctc
     1381 accagccact acaaactgaa cgtcccccgc tttctcatgt gcaacctggc ctttgcggat
     1441 ttctgcatgg ggatgtacct gctcctcatc gcctctgtag acctctacac tcactctgag
     1501 tactacaacc atgccatcga ctggcagaca ggccctgggt gcaacacggc tggtttcttc
     1561 actgtctttg caagcgagtt atcggtgtat acgctgacgg tcatcaccct ggagcgctgg
     1621 tatgccatca ccttcgccat gcgcctggac cggaagatcc gcctcaggca cgcatgtgcc
     1681 atcatggttg ggggctgggt ttgctgcttc cttctcgccc tgcttccttt ggtgggaata
     1741 agtagctatg ccaaagtcag tatctgcctg cccatggaca ccgagacccc tcttgctctg
     1801 gcatatattg tttttgttct gacgctcaac atagttgcct tcgtcatcgt ctgctgctgt
     1861 tatgtgaaga tctacatcac agtccgaaat ccgcagtaca acccagggga caaagatacc
     1921 aaaattgcca agaggatggc tgtgttgatc ttcaccgact tcatatgcat ggccccaatc
     1981 tcattctatg ctctgtcagc aattctgaac aagcctctca tcactgttag caactccaaa
     2041 atcttgctgg tactcttcta tccacttaac tcctgtgcca atccattcct ctatgctatt
     2101 ttcaccaagg ccttccagag ggatgtgttc atcctactca gcaagtttgg catctgtaaa
     2161 cgccaggctc aggcataccg ggggcagagg gttcctccaa agaacagcac tgatattcag
     2221 gttcaaaagg ttacccacga gatgaggcag ggtctccaca acatggaaga tgtctatgaa
     2281 ctgattgaaa actcccatct aaccccaaag aagcaaggcc aaatctcaga agagtatatg
     2341 caaacggttt tgtaagttaa cactacacta ctcacaatgg taggggaact tacaaaataa
     2401 tagtttcttg aatatgcatt ccaatcccat gacaccccca acacatagct gccctcactc
     2461 ttgtgcaggc gatgtttcaa tgtttcatgg ggcaagagtt tatctctgga gagtgattag
     2521 tattaaccta atcattgccc ccaagaagga agttaggcta ccagcatatt tgaatgccag
     2581 gtgaaatcaa aataatctac actatctaga agactttctt gatgccaagt ccagagatgt
     2641 cattgtgtag gatgttcagt aaatattaac tgagctatgt caatatagag cttctcagtt
     2701 ttgtataaca tttcatacta aagattcagc aaatggaaaa tgctattaat ttggttggtg
     2761 accacaagat aaaatcagtc ccacgttggc tcagttcaac tagatgttcc ctgatacaaa
     2821 gagaacttga tttccttaaa actgaaaagc caaacacagc tagctgtcat acaagaaaca
     2881 gctattatga gacatgaagg agggtaagaa ttagctttaa gttttgtttt gctttgtttt
     2941 gttttttaac tcaacctatt aatcatctct tcacaagaat ccacctgatg tgaccaagct
     3001 attatgtgtt gcctggaaaa actggcaaga tttcagctta tgtggcctag caaactaaga
     3061 attgctcttc ttggccagcc tcatagcata aaagatgtga actctaggaa gtctttctga
     3121 gtagcaataa gtgggaatta tgggcagagc acactcaatc ccctgttgat taataaaaca
     3181 ggctggacac taattaacta tgggacttaa atctgtagaa atgaaggagt ccaatagctt
     3241 cttccaattt taaaactcta gtacatccct ttccctcaaa tatatatttc taagataaag
     3301 agaaagaaga gcactaagta agtagaatct gtttttccta ttttgtaggg ctgctgactc
     3361 ctagtccttg aagcctagac acatgaccca ggaaattttt cctttgtttc acttttgatt
     3421 atgatgtctg agccaaaaat tcaattaagt aaacatactc gcctggatct gaatcattca
     3481 tttaattact agatctaccc agctgttata tcaggccaaa aacagattcg tgtttatata
     3541 aaagagtaaa cgatggttgc aaattttggc tatttagagt tgctacttca ctatgaagag
     3601 tcacttcaaa acacttcgct tgtctttagg gatgattttt gccatttcca gtccacggta
     3661 tgatactaaa gctgtcaaga gaggtttctt cttttctgaa actgccagct ctttccagcc
     3721 ctgttgatca ctggacataa agcttctttt ccccaataat tcttctttac ttaaaatagt
     3781 caggatcttt atctacagat gtactctcca ggttacctgt gatgatagcc ccctaatgtc
     3841 ctgctagaaa agtctccaag cagagatgac attacttctg aatgctcata aaccacacca
     3901 tgaaataaaa gctctttgtt gttttaagat tgtgaagtgt cgttaatggg tccccacaga
     3961 tggtccctgc tggactcacc tggaatctct ccacagccat acccactcat cactatcatt
     4021 gagacctgca catcttaata gaaatattat aaacatcgaa aatcatgact tacctagaag
     4081 ttcgcttgta actaatgaaa ttaaacaaat gtgttgcctt ttgtcatgtg tttctctcct
     4141 gtgacatttc aaaatatcac atcttgataa ataatgtgtt tcatcttgaa tagctgaact
     4201 aattgctttg gaaacagagt cctagaaaag tgacttcaac agaattgtta ctaaaatttg
     4261 cactcacaac atgaaataaa ttttcttcct atggaataat cgtgccaa
//
LOCUS       NM_000370               2633 bp    mRNA    linear   PRI 12-MAY-2023
DEFINITION  Homo sapiens alpha tocopherol transfer protein (TTPA), transcript
            variant 1, mRNA.
ACCESSION   NM_000370
VERSION     NM_000370.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2633)
  AUTHORS   Ulatowski L, Ghelfi M, West R, Atkinson J, Finno CJ and Manor D.
  TITLE     The tocopherol transfer protein mediates vitamin E trafficking
            between cerebellar astrocytes and neurons
  JOURNAL   J Biol Chem 298 (3), 101712 (2022)
   PUBMED   35150738
  REMARK    GeneRIF: The tocopherol transfer protein mediates vitamin E
            trafficking between cerebellar astrocytes and neurons.
REFERENCE   2  (bases 1 to 2633)
  AUTHORS   Arai H and Kono N.
  TITLE     alpha-Tocopherol transfer protein (alpha-TTP)
  JOURNAL   Free Radic Biol Med 176, 162-175 (2021)
   PUBMED   34563650
  REMARK    GeneRIF: alpha-Tocopherol transfer protein (alpha-TTP). Review
            article
REFERENCE   3  (bases 1 to 2633)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2633)
  AUTHORS   Tamura T, Otulakowski G, Post M and Kavanagh BP.
  TITLE     alpha-Tocopherol Transfer Protein Enhances alpha-Tocopherol
            Protective Effects in Lung A549 Cells
  JOURNAL   Am J Respir Cell Mol Biol 62 (6), 810-813 (2020)
   PUBMED   32469275
  REMARK    GeneRIF: alpha-Tocopherol Transfer Protein Enhances alpha-Tocopherol
            Protective Effects in Lung A549 Cells.
REFERENCE   5  (bases 1 to 2633)
  AUTHORS   Gotoda T, Arita M, Arai H, Inoue K, Yokota T, Fukuo Y, Yazaki Y and
            Yamada N.
  TITLE     Adult-onset spinocerebellar dysfunction caused by a mutation in the
            gene for the alpha-tocopherol-transfer protein
  JOURNAL   N Engl J Med 333 (20), 1313-1318 (1995)
   PUBMED   7566022
REFERENCE   6  (bases 1 to 2633)
  AUTHORS   Arita M, Sato Y, Miyata A, Tanabe T, Takahashi E, Kayden HJ, Arai H
            and Inoue K.
  TITLE     Human alpha-tocopherol transfer protein: cDNA cloning, expression
            and chromosomal localization
  JOURNAL   Biochem J 306 (Pt 2) (Pt 2), 437-443 (1995)
   PUBMED   7887897
REFERENCE   7  (bases 1 to 2633)
  AUTHORS   Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai
            H, Inoue K, Mandel JL and Koenig M.
  TITLE     Ataxia with isolated vitamin E deficiency is caused by mutations in
            the alpha-tocopherol transfer protein
  JOURNAL   Nat Genet 9 (2), 141-145 (1995)
   PUBMED   7719340
REFERENCE   8  (bases 1 to 2633)
  AUTHORS   Ben Hamida C, Doerflinger N, Belal S, Linder C, Reutenauer L, Dib C,
            Gyapay G, Vignal A, Le Paslier D, Cohen D et al.
  TITLE     Localization of Friedreich ataxia phenotype with selective vitamin E
            deficiency to chromosome 8q by homozygosity mapping
  JOURNAL   Nat Genet 5 (2), 195-200 (1993)
   PUBMED   8252047
REFERENCE   9  (bases 1 to 2633)
  AUTHORS   Schuelke,M.
  TITLE     Ataxia with Vitamin E Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301419
REFERENCE   10  (bases 1 to 2633)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301317
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.123094.1, BC041784.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN04284274
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000260116.5/ ENSP00000260116.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC058000.1, BC041784.1 and
            AC120042.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 4, 2009 this sequence version replaced NM_000370.2.
            Summary: This gene encodes a soluble protein that binds
            alpha-trocopherol, a form of vitamin E, with high selectivity and
            affinity. This protein plays an important role in regulating
            vitamin E levels in the body by transporting vitamin E between
            membrane vesicles and facilitating the secretion of vitamin E from
            hepatocytes to circulating lipoproteins. Mutations in this gene
            cause hereditary vitamin E deficiency (ataxia with vitamin E
            deficiency, AVED) and retinitis pigmentosa. [provided by RefSeq,
            Nov 2009].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..2633
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.3"
     gene            1..2633
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /note="alpha tocopherol transfer protein"
                     /db_xref="GeneID:7274"
                     /db_xref="HGNC:HGNC:12404"
                     /db_xref="MIM:600415"
     CDS             33..869
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     tocopherol (alpha) transfer protein (ataxia
                     (Friedreich-like) with vitamin E deficiency); alpha-TTP"
                     /codon_start=1
                     /product="alpha-tocopherol transfer protein isoform 1"
                     /protein_id="NP_000361.1"
                     /db_xref="CCDS:CCDS6178.1"
                     /db_xref="GeneID:7274"
                     /db_xref="HGNC:HGNC:12404"
                     /db_xref="MIM:600415"
                     /translation="MAEARSQPSAGPQLNALPDHSPLLQPGLAALRRRAREAGVPLAPL
                     PLTDSFLLRFLRARDFDLDLAWRLLKNYYKWRAECPEISADLHPRSIIGLLKAGYHGVL
                     RSRDPTGSKVLIYRIAHWDPKVFTAYDVFRVSLITSELIVQEVETQRNGIKAIFDLEGW
                     QFSHAFQITPSVAKKIAAVLTDSFPLKVRGIHLINEPVIFHAVFSMIKPFLTEKIKERI
                     HMHGNNYKQSLLQHFPDILPLEYGGEEFSMEDICQEWTNFIMKSEDYLSSISESIQ"
     misc_feature    33..92
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P49638.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1320..1325
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /note="hexamer: ATTATA"
     polyA_site      1342
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /note="major polyA site"
     regulatory      2337..2342
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /note="hexamer: AATAAA"
     regulatory      2345..2350
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
                     /note="hexamer: AATAAA"
     polyA_site      2355
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
     polyA_site      2367
                     /gene="TTPA"
                     /gene_synonym="alphaTTP; ATTP; AVED; TTP1"
ORIGIN
        1 gggtagctgc ggccgcagca gcggcggcgg gcatggcaga ggcgcgatcc cagccctcgg
       61 cggggccgca gctcaacgcg ctaccggacc actctccgtt gctgcagccg ggcctggcgg
      121 cgctgcggcg ccgggcccgg gaagctggcg tcccgctcgc gccgctgccg ctcaccgact
      181 ccttcctgct gcggttcctg cgcgcccggg atttcgatct ggacctggcc tggcggttac
      241 taaaaaacta ttataagtgg agagcagaat gtccagaaat aagtgcagat ctacacccta
      301 gaagtattat tggcctccta aaggctggct accatggagt cctgagatcc agggatccca
      361 ctggcagcaa agttcttatt tacagaatcg cacactggga ccccaaagtt tttacagctt
      421 atgacgtatt tcgagtaagt ctaatcacat ccgagcttat tgtacaggag gtagaaactc
      481 agcggaatgg aatcaaggct atctttgatc tggaaggttg gcagttttct catgcttttc
      541 aaatcactcc atccgtagcc aagaagattg ctgctgtact tacggattca tttccattga
      601 aagttcgtgg catccatttg ataaatgaac cagtaatttt ccatgctgtc ttttccatga
      661 tcaaaccatt cctgactgaa aaaattaagg aacggattca catgcatggg aacaactaca
      721 aacaaagctt gcttcagcat ttcccagaca ttcttcctct ggaatatggt ggtgaagaat
      781 tctccatgga ggacatttgt caggaatgga caaattttat aatgaagtct gaagattatc
      841 tcagcagcat ttctgagagc attcaatgag aagttatgtc atgtgaatgg cttcctaact
      901 aaaaatacat gagtgatatc caacctggtt aaatgaatga aagaaaagga gcaaatcttt
      961 taaactaatg cttgcctgaa ctttaaaaat gtagaaatct tctgacatga gcaacacagg
     1021 tgtttggaaa gattttttac tttttaaatg cttttttctc tacttttgaa gtaattaaat
     1081 gtcagtacat tttaagagca taaaaatcgg cgattttgta cttgaagaga acatgaaagt
     1141 tattgctaaa gtagctgctc atgtgcatct ttgtatgttt ctagaaagtt atattttaaa
     1201 caagttctct gattaaattg gtttagaaaa aaatttagaa atattccgct taaaaatact
     1261 agcacaagtc agctaatgat aaaaaaatta acacttgttt taagtggatg tcagattaaa
     1321 ttataattca ttataattaa aatctgaata gagttttatg gttattcctg tggaccagca
     1381 agacatttca tctcagggaa attttatttt agtatattaa cacgatagaa actttttttt
     1441 tttttttcag acagagtctt gctctgtcgc ccaggctaga gtgcagtagt gagatctcag
     1501 ctcactgcaa cctctgctag gattacatgt gcacaccacc actcctggct aagttttgta
     1561 ttttatatag agatggggtt ttgccacgtt ggccaagctg gtctcaaact cctgaactca
     1621 agtaatttgc ctgcttcggc ctcccagagt cctgggatta cagtcgtgag ccatcgcgcc
     1681 tggccgtgat agaaactttc agctgaggag tctatatgcc atactactct atgtggcatc
     1741 tttaggtctc tgtgaaatca tgttgatgta attgattaac aaaaataatt tagaaaatac
     1801 gtcaggcaca gttgatggct tctcaatatc tgctttgcat ttttaaacaa atcaagaatg
     1861 taattttaac ttttgcttat ggtcattctt atgactacac ggaaagggat ggaatcatac
     1921 ttacttgtct tatacatgga ctgtttttag ttaacaataa cgtaactaca caaaggaaag
     1981 gaaatgttta cattttaaaa aattactgtc aattacatct ggtatttttc agattatgca
     2041 taaaataata tgagtttgac tattgtatca gaatatttta atcaaatcct gcaatttata
     2101 ttaacttaaa aaaacatctg gtaaagactg ggtgtggcag ctcacacctg taatcccagc
     2161 actttgggag gccgaggctg gatggatgat tgcttgagcg caggagttct agaccagcct
     2221 gggcaataca gggagaccct gtctctattt caaaaataaa taaataggcc ccggtgtgtg
     2281 atgttcccct tcctgtgtcc atgtgttctc aaaaaaaatt aaaaaataaa aataaaaata
     2341 aataaataaa taaccggtaa agatgtactg tttctactgc agtttataat atttcattta
     2401 ttaagaaaga tatcatctca gctttcaaat tcaacatagc cctcaattta tgacataagt
     2461 tttatactta gtattttata atttcttaat tttgttataa acttgaaaat gtagaatatg
     2521 gggtccaaaa tctgttgaac atttgttcag ctagttaggt ttcaacatta atcatataca
     2581 ttaatagtat ctttatgtaa ggatatgtga agggtgtttt tctttataag aaa
//
LOCUS       NM_000371                616 bp    mRNA    linear   PRI 29-SEP-2023
DEFINITION  Homo sapiens transthyretin (TTR), mRNA.
ACCESSION   NM_000371
VERSION     NM_000371.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 616)
  AUTHORS   Haring B, Hunt RP, Shadyab AH, Eaton C, Kaplan R, Martin LW,
            Panjrath G, Kuller LH, Assimes T, Kooperberg C and
            Wassertheil-Smoller S.
  TITLE     Cardiovascular Disease and Mortality in Black Women Carrying the
            Amyloidogenic V122I Transthyretin Gene Variant
  JOURNAL   JACC Heart Fail 11 (9), 1189-1199 (2023)
   PUBMED   36930136
  REMARK    GeneRIF: Cardiovascular Disease and Mortality in Black Women
            Carrying the Amyloidogenic V122I Transthyretin Gene Variant.
REFERENCE   2  (bases 1 to 616)
  AUTHORS   Madhani A, Sabogal N, Massillon D, Paul LD, Rodriguez C, Fine D,
            Helmke S, Winburn M, Kurian D, Raiszadeh F, Teruya S, Cohn E,
            Einstein AJ, Miller EJ, Connors LH, Maurer MS and Ruberg FL.
  TITLE     Clinical Penetrance of the Transthyretin V122I Variant in Older
            Black Patients With Heart Failure: The SCAN-MP (Screening for
            Cardiac Amyloidosis With Nuclear Imaging in Minority Populations)
            Study
  JOURNAL   J Am Heart Assoc 12 (15), e028973 (2023)
   PUBMED   37486082
  REMARK    GeneRIF: Clinical Penetrance of the Transthyretin V122I Variant in
            Older Black Patients With Heart Failure: The SCAN-MP (Screening for
            Cardiac Amyloidosis With Nuclear Imaging in Minority Populations)
            Study.
REFERENCE   3  (bases 1 to 616)
  AUTHORS   Cappelli F, Del Franco A, Vergaro G, Mazzoni C, Argiro A, Pieroni M,
            Giacomin E, Poli S, Allinovi M, Olivotto I, Pieroni F, Scaletti C,
            Emdin M and Perfetto F.
  TITLE     Prevalence of transthyretin-related amyloidosis in Tuscany: Data
            from the regional population-based registry
  JOURNAL   Int J Cardiol 382, 87-90 (2023)
   PUBMED   37004943
  REMARK    GeneRIF: Prevalence of transthyretin-related amyloidosis in Tuscany:
            Data from the regional population-based registry.
REFERENCE   4  (bases 1 to 616)
  AUTHORS   Okada A, Kakuta T, Tadokoro N, Tateishi E, Morita Y, Kitai T, Amaki
            M, Kanzaki H, Ohta-Ogo K, Ikeda Y, Fukushima S, Fujita T, Kusano K,
            Noguchi T and Izumi C.
  TITLE     Transthyretin derived amyloid deposits in the atrium and the aortic
            valve: insights from multimodality evaluations and mid-term follow
            up
  JOURNAL   BMC Cardiovasc Disord 23 (1), 281 (2023)
   PUBMED   37264308
  REMARK    GeneRIF: Transthyretin derived amyloid deposits in the atrium and
            the aortic valve: insights from multimodality evaluations and
            mid-term follow up. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 616)
  AUTHORS   Wang YS, Huang CH, Liou GG, Hsueh HW, Liang CT, Tseng HC, Huang SJ,
            Chao CC, Hsieh ST and Tzeng SR.
  TITLE     A molecular basis for tetramer destabilization and aggregation of
            transthyretin Ala97Ser
  JOURNAL   Protein Sci 32 (4), e4610 (2023)
   PUBMED   36851846
  REMARK    GeneRIF: A molecular basis for tetramer destabilization and
            aggregation of transthyretin Ala97Ser.
REFERENCE   6  (bases 1 to 616)
  AUTHORS   Sekijima,Y.
  TITLE     Hereditary Transthyretin Amyloidosis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301373
REFERENCE   7  (bases 1 to 616)
  AUTHORS   Fex,G., Albertsson,P.A. and Hansson,B.
  TITLE     Interaction between prealbumin and retinol-binding protein studied
            by affinity chromatography, gel filtration and two-phase partition
  JOURNAL   Eur J Biochem 99 (2), 353-360 (1979)
   PUBMED   574085
REFERENCE   8  (bases 1 to 616)
  AUTHORS   Blake,C.C., Geisow,M.J., Oatley,S.J., Rerat,B. and Rerat,C.
  TITLE     Structure of prealbumin: secondary, tertiary and quaternary
            interactions determined by Fourier refinement at 1.8 A
  JOURNAL   J Mol Biol 121 (3), 339-356 (1978)
   PUBMED   671542
REFERENCE   9  (bases 1 to 616)
  AUTHORS   Blake,C.C. and Oatley,S.J.
  TITLE     Protein-DNA and protein-hormone interactions in prealbumin: a model
            of the thyroid hormone nuclear receptor?
  JOURNAL   Nature 268 (5616), 115-120 (1977)
   PUBMED   201845
REFERENCE   10  (bases 1 to 616)
  AUTHORS   Kopelman,M., Cogan,U., Mokady,S. and Shinitzky,M.
  TITLE     The interaction between retinol-binding proteins and prealbumins
            studied by fluorescence polarization
  JOURNAL   Biochim Biophys Acta 439 (2), 449-460 (1976)
   PUBMED   986177
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BG699033.1, BG562535.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000237014.8/ ENSP00000237014.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC020791.1.
            On Dec 4, 2019 this sequence version replaced NM_000371.3.
            Summary: This gene encodes one of the three prealbumins, which
            include alpha-1-antitrypsin, transthyretin and orosomucoid. The
            encoded protein, transthyretin, is a homo-tetrameric carrier
            protein, which transports thyroid hormones in the plasma and
            cerebrospinal fluid. It is also involved in the transport of
            retinol (vitamin A) in the plasma by associating with
            retinol-binding protein. The protein may also be involved in other
            intracellular processes including proteolysis, nerve regeneration,
            autophagy and glucose homeostasis. Mutations in this gene are
            associated with amyloid deposition, predominantly affecting
            peripheral nerves or the heart, while a small percentage of the
            gene mutations are non-amyloidogenic. The mutations are implicated
            in the etiology of several diseases, including amyloidotic
            polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous
            opacities, cardiomyopathy, oculoleptomeningeal amyloidosis,
            meningocerebrovascular amyloidosis and carpal tunnel syndrome.
            [provided by RefSeq, Aug 2017].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..616
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     gene            1..616
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /note="transthyretin"
                     /db_xref="GeneID:7276"
                     /db_xref="HGNC:HGNC:12405"
                     /db_xref="MIM:176300"
     CDS             27..470
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /note="prealbumin, amyloidosis type I; thyroxine-binding
                     prealbumin; epididymis luminal protein 111"
                     /codon_start=1
                     /product="transthyretin precursor"
                     /protein_id="NP_000362.1"
                     /db_xref="CCDS:CCDS11899.1"
                     /db_xref="GeneID:7276"
                     /db_xref="HGNC:HGNC:12405"
                     /db_xref="MIM:176300"
                     /translation="MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPA
                     INVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGI
                     SPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE"
     sig_peptide     27..86
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     87..467
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /product="transthyretin"
     misc_feature    210..212
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /note="4-carboxyglutamate, in a patient with Moyamoya
                     disease. /evidence=ECO:0000269|PubMed:18221012; propagated
                     from UniProtKB/Swiss-Prot (P02766.1);
                     gamma-carboxyglutamic-acid site"
     misc_feature    240..242
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P02767; propagated from
                     UniProtKB/Swiss-Prot (P02766.1); phosphorylation site"
     misc_feature    378..380
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19167329; propagated from
                     UniProtKB/Swiss-Prot (P02766.1); glycosylation site"
     regulatory      593..598
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /note="hexamer: AATAAA"
     polyA_site      616
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /note="major polyA site"
ORIGIN
        1 acagaagtcc actcattctt ggcaggatgg cttctcatcg tctgctcctc ctctgccttg
       61 ctggactggt atttgtgtct gaggctggcc ctacgggcac cggtgaatcc aagtgtcctc
      121 tgatggtcaa agttctagat gctgtccgag gcagtcctgc catcaatgtg gccgtgcatg
      181 tgttcagaaa ggctgctgat gacacctggg agccatttgc ctctgggaaa accagtgagt
      241 ctggagagct gcatgggctc acaactgagg aggaatttgt agaagggata tacaaagtgg
      301 aaatagacac caaatcttac tggaaggcac ttggcatctc cccattccat gagcatgcag
      361 aggtggtatt cacagccaac gactccggcc cccgccgcta caccattgcc gccctgctga
      421 gcccctactc ctattccacc acggctgtcg tcaccaatcc caaggaatga gggacttctc
      481 ctccagtgga cctgaaggac gagggatggg atttcatgta accaagagta ttccattttt
      541 actaaagcag tgttttcacc tcatatgcta tgttagaagt ccaggcagag acaataaaac
      601 attcctgtga aaggca
//
LOCUS       NM_000372               2062 bp    mRNA    linear   PRI 17-APR-2023
DEFINITION  Homo sapiens tyrosinase (TYR), mRNA.
ACCESSION   NM_000372
VERSION     NM_000372.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2062)
  AUTHORS   Michaud V, Lasseaux E, Green DJ, Gerrard DT, Plaisant C, Fitzgerald
            T, Birney E, Arveiler B, Black GC and Sergouniotis PI.
  CONSRTM   UK Biobank Eye and Vision Consortium
  TITLE     The contribution of common regulatory and protein-coding TYR
            variants to the genetic architecture of albinism
  JOURNAL   Nat Commun 13 (1), 3939 (2022)
   PUBMED   35803923
  REMARK    GeneRIF: The contribution of common regulatory and protein-coding
            TYR variants to the genetic architecture of albinism. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 2062)
  AUTHORS   Li C, Chen Q, Wu J, Ren J, Zhang M, Wang H, Li J and Tang Y.
  TITLE     Identification and characterization of two novel noncoding
            tyrosinase (TYR) gene variants leading to oculocutaneous albinism
            type 1
  JOURNAL   J Biol Chem 298 (5), 101922 (2022)
   PUBMED   35413289
  REMARK    GeneRIF: Identification and characterization of two novel noncoding
            tyrosinase (TYR) gene variants leading to oculocutaneous albinism
            type 1.
REFERENCE   3  (bases 1 to 2062)
  AUTHORS   Shakil M, Akbar A, Aisha NM, Hussain I, Ullah MI, Atif M, Kaul H,
            Amar A, Latif MZ, Qureshi MA and Mahmood S.
  TITLE     Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and
            HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani
            Families
  JOURNAL   Genes (Basel) 13 (3), 503 (2022)
   PUBMED   35328057
  REMARK    GeneRIF: Delineating Novel and Known Pathogenic Variants in TYR,
            OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA)
            Pakistani Families. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2062)
  AUTHORS   Dhangar S, Panchal P, Ghatanatti J, Suralkar J, Shah A and Vundinti
            BR.
  TITLE     Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism
            1B in an Indian family along with intellectual disability associated
            with chromosomal copy number variations
  JOURNAL   BMC Med Genomics 15 (1), 2 (2022)
   PUBMED   34980106
  REMARK    GeneRIF: Novel deletion of exon 3 in TYR gene causing Oculocutaneous
            albinism 1B in an Indian family along with intellectual disability
            associated with chromosomal copy number variations. Erratum:[BMC Med
            Genomics. 2022 Jan 18;15(1):11. PMID: 35042536] Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 2062)
  AUTHORS   Thomas,M.G., Zippin,J. and Brooks,B.P.
  TITLE     Oculocutaneous Albinism and Ocular Albinism Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   37053367
REFERENCE   6  (bases 1 to 2062)
  AUTHORS   Lewis,R.A.
  TITLE     Oculocutaneous Albinism Type 1 - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301345
REFERENCE   7  (bases 1 to 2062)
  AUTHORS   Oetting WS and King RA.
  TITLE     Molecular analysis of type I-A (tyrosinase negative) oculocutaneous
            albinism
  JOURNAL   Hum Genet 90 (3), 258-262 (1992)
   PUBMED   1487241
REFERENCE   8  (bases 1 to 2062)
  AUTHORS   Tripathi RK, Strunk KM, Giebel LB, Weleber RG and Spritz RA.
  TITLE     Tyrosinase gene mutations in type I (tyrosinase-deficient)
            oculocutaneous albinism define two clusters of missense
            substitutions
  JOURNAL   Am J Med Genet 43 (5), 865-871 (1992)
   PUBMED   1642278
REFERENCE   9  (bases 1 to 2062)
  AUTHORS   Bard,L.A.
  TITLE     Heterogeneity in Waardenburg's syndrome. Report of a family with
            ocular albinism
  JOURNAL   Arch Ophthalmol 96 (7), 1193-1198 (1978)
   PUBMED   666627
REFERENCE   10  (bases 1 to 2062)
  AUTHORS   Palmer,L.G. and Civan,M.M.
  TITLE     Intracellular distribution of free potassium in Chironomus salivary
            glands
  JOURNAL   Science 188 (4195), 1321-1322 (1975)
   PUBMED   1145200
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M27160.1, M74314.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145893,
            SAMEA2147596 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000263321.6/ ENSP00000263321.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M27160.1 and BU736025.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000372.4.
            Summary: The enzyme encoded by this gene catalyzes the first 2
            steps, and at least 1 subsequent step, in the conversion of
            tyrosine to melanin. The enzyme has both tyrosine hydroxylase and
            dopa oxidase catalytic activities, and requires copper for
            function. Mutations in this gene result in oculocutaneous albinism,
            and nonpathologic polymorphisms result in skin pigmentation
            variation. The human genome contains a pseudogene similar to the 3'
            half of this gene. [provided by RefSeq, Oct 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2062
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.3"
     gene            1..2062
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="tyrosinase"
                     /db_xref="GeneID:7299"
                     /db_xref="HGNC:HGNC:12442"
                     /db_xref="MIM:606933"
     misc_feature    41..43
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="upstream in-frame stop codon"
     CDS             80..1669
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /EC_number="1.14.18.1"
                     /note="LB24-AB; SK29-AB; monophenol monooxygenase; tumor
                     rejection antigen AB; oculocutaneous albinism IA"
                     /codon_start=1
                     /product="tyrosinase precursor"
                     /protein_id="NP_000363.1"
                     /db_xref="CCDS:CCDS8284.1"
                     /db_xref="GeneID:7299"
                     /db_xref="HGNC:HGNC:12442"
                     /db_xref="MIM:606933"
                     /translation="MLLAVLYCLLWSFQTSAGHFPRACVSSKNLMEKECCPPWSGDRSP
                     CGQLSGRGSCQNILLSNAPLGPQFPFTGVDDRESWPSVFYNRTCQCSGNFMGFNCGNCK
                     FGFWGPNCTERRLLVRRNIFDLSAPEKDKFFAYLTLAKHTISSDYVIPIGTYGQMKNGS
                     TPMFNDINIYDLFVWMHYYVSMDALLGGSEIWRDIDFAHEAPAFLPWHRLFLLRWEQEI
                     QKLTGDENFTIPYWDWRDAEKCDICTDEYMGGQHPTNPNLLSPASFFSSWQIVCSRLEE
                     YNSHQSLCNGTPEGPLRRNPGNHDKSRTPRLPSSADVEFCLSLTQYESGSMDKAANFSF
                     RNTLEGFASPLTGIADASQSSMHNALHIYMNGTMSQVQGSANDPIFLLHHAFVDSIFEQ
                     WLRRHRPLQEVYPEANAPIGHNRESYMVPFIPLYRNGDFFISSKDLGYDYSYLQDSDPD
                     SFQDYIKSYLEQASRIWSWLLGAAMVGAVLTALLAGLVSLLCRHKRKQLPEEKQPLLME
                     KEDYHSLYQSHL"
     sig_peptide     80..133
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
     mat_peptide     134..1666
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /product="tyrosinase"
     misc_feature    335..337
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14679.3); glycosylation site"
     misc_feature    410..412
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14679.3); glycosylation site"
     misc_feature    560..562
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14679.3); glycosylation site"
     misc_feature    767..769
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14679.3); glycosylation site"
     misc_feature    938..1018
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="propagated from UniProtKB/Swiss-Prot (P14679.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1088..1090
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14679.3); glycosylation site"
     misc_feature    1190..1192
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14679.3); glycosylation site"
     misc_feature    1508..1570
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="propagated from UniProtKB/Swiss-Prot (P14679.3);
                     transmembrane region"
     regulatory      1943..1948
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="hexamer: ATTAAA"
     polyA_site      1973
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="major polyA site"
     regulatory      2042..2047
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="hexamer: AATAAA"
     polyA_site      2062
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
ORIGIN
        1 actgtagtag tagctggaaa gagaaatctg tgactccaat tagccagttc ctgcagacct
       61 tgtgaggact agaggaagaa tgctcctggc tgttttgtac tgcctgctgt ggagtttcca
      121 gacctccgct ggccatttcc ctagagcctg tgtctcctct aagaacctga tggagaagga
      181 atgctgtcca ccgtggagcg gggacaggag tccctgtggc cagctttcag gcagaggttc
      241 ctgtcagaat atccttctgt ccaatgcacc acttgggcct caatttccct tcacaggggt
      301 ggatgaccgg gagtcgtggc cttccgtctt ttataatagg acctgccagt gctctggcaa
      361 cttcatggga ttcaactgtg gaaactgcaa gtttggcttt tggggaccaa actgcacaga
      421 gagacgactc ttggtgagaa gaaacatctt cgatttgagt gccccagaga aggacaaatt
      481 ttttgcctac ctcactttag caaagcatac catcagctca gactatgtca tccccatagg
      541 gacctatggc caaatgaaaa atggatcaac acccatgttt aacgacatca atatttatga
      601 cctctttgtc tggatgcatt attatgtgtc aatggatgca ctgcttgggg gatctgaaat
      661 ctggagagac attgattttg cccatgaagc accagctttt ctgccttggc atagactctt
      721 cttgttgcgg tgggaacaag aaatccagaa gctgacagga gatgaaaact tcactattcc
      781 atattgggac tggcgggatg cagaaaagtg tgacatttgc acagatgagt acatgggagg
      841 tcagcacccc acaaatccta acttactcag cccagcatca ttcttctcct cttggcagat
      901 tgtctgtagc cgattggagg agtacaacag ccatcagtct ttatgcaatg gaacgcccga
      961 gggaccttta cggcgtaatc ctggaaacca tgacaaatcc agaaccccaa ggctcccctc
     1021 ttcagctgat gtagaatttt gcctgagttt gacccaatat gaatctggtt ccatggataa
     1081 agctgccaat ttcagcttta gaaatacact ggaaggattt gctagtccac ttactgggat
     1141 agcggatgcc tctcaaagca gcatgcacaa tgccttgcac atctatatga atggaacaat
     1201 gtcccaggta cagggatctg ccaacgatcc tatcttcctt cttcaccatg catttgttga
     1261 cagtattttt gagcagtggc tccgaaggca ccgtcctctt caagaagttt atccagaagc
     1321 caatgcaccc attggacata accgggaatc ctacatggtt ccttttatac cactgtacag
     1381 aaatggtgat ttctttattt catccaaaga tctgggctat gactatagct atctacaaga
     1441 ttcagaccca gactcttttc aagactacat taagtcctat ttggaacaag cgagtcggat
     1501 ctggtcatgg ctccttgggg cggcgatggt aggggccgtc ctcactgccc tgctggcagg
     1561 gcttgtgagc ttgctgtgtc gtcacaagag aaagcagctt cctgaagaaa agcagccact
     1621 cctcatggag aaagaggatt accacagctt gtatcagagc catttataaa aggcttaggc
     1681 aatagagtag ggccaaaaag cctgacctca ctctaactca aagtaatgtc caggttccca
     1741 gagaatatct gctggtattt ttctgtaaag accatttgca aaattgtaac ctaatacaaa
     1801 gtgtagcctt cttccaactc aggtagaaca cacctgtctt tgtcttgctg ttttcactca
     1861 gcccttttaa cattttcccc taagcccata tgtctaagga aaggatgcta tttggtaatg
     1921 aggaactgtt atttgtatgt gaattaaagt gctcttattt taaaaaattg aaataatttt
     1981 gatttttgcc ttctgattat ttaaagatct atatatgttt tattggcccc ttctttattt
     2041 taataaaaca gtgagaaatc ta
//
LOCUS       NM_000373               6652 bp    mRNA    linear   PRI 10-APR-2023
DEFINITION  Homo sapiens uridine monophosphate synthetase (UMPS), transcript
            variant 1, mRNA.
ACCESSION   NM_000373
VERSION     NM_000373.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6652)
  AUTHORS   Kim-Holzapfel DM, Dey R, Richardson BC, Arachchige D, Reddy K, De
            Vitto H, Bhandari J and French JB.
  TITLE     Human uridine 5'-monophosphate synthase stores metabolic potential
            in inactive biomolecular condensates
  JOURNAL   J Biol Chem 299 (3), 102949 (2023)
   PUBMED   36708921
  REMARK    GeneRIF: Human uridine 5'-monophosphate synthase stores metabolic
            potential in inactive biomolecular condensates.
REFERENCE   2  (bases 1 to 6652)
  AUTHORS   Luo L, Zhang J, Tang H, Zhai D, Huang D, Ling L, Wang X, Liu T,
            Zhang Q, Zhang Z, He Z and Zheng G.
  TITLE     LncRNA SNORD3A specifically sensitizes breast cancer cells to 5-FU
            by sponging miR-185-5p to enhance UMPS expression
  JOURNAL   Cell Death Dis 11 (5), 329 (2020)
   PUBMED   32382150
  REMARK    GeneRIF: LncRNA SNORD3A specifically sensitizes breast cancer cells
            to 5-FU by sponging miR-185-5p to enhance UMPS expression.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6652)
  AUTHORS   Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD,
            Yuzyuk T, Coughlin CR, Descartes M, Grunewald S, Maranda B, Mills
            PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai
            EF, Wevers RA and Tiller GE.
  CONSRTM   additional individual contributors
  TITLE     Mild orotic aciduria in UMPS heterozygotes: a metabolic finding
            without clinical consequences
  JOURNAL   J Inherit Metab Dis 40 (3), 423-431 (2017)
   PUBMED   28205048
  REMARK    GeneRIF: Partial UMPS-deficiency should be included in the
            differential diagnosis of mild orotic aciduria.
REFERENCE   4  (bases 1 to 6652)
  AUTHORS   Kim SY, Baek JY, Oh JH, Park SC, Sohn DK, Kim MJ, Chang HJ, Kong SY
            and Kim DY.
  TITLE     A phase II study of preoperative chemoradiation with tegafur-uracil
            plus leucovorin for locally advanced rectal cancer with
            pharmacogenetic analysis
  JOURNAL   Radiat Oncol 12 (1), 62 (2017)
   PUBMED   28347333
  REMARK    GeneRIF: The UMPS 638 CC genotype might be a candidate biomarker
            predicting toxicity in patients receiving
            tegafur-uracil/leucovorin-based preoperative chemoradiation for
            locally advanced rectal cancer Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6652)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE,
            Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker SA,
            Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G,
            Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   6  (bases 1 to 6652)
  AUTHORS   Qumsiyeh MB, Valentine MB and Suttle DP.
  TITLE     Localization of the gene for uridine monophosphate synthase to human
            chromosome region 3q13 by in situ hybridization
  JOURNAL   Genomics 5 (1), 160-162 (1989)
   PUBMED   2767686
REFERENCE   7  (bases 1 to 6652)
  AUTHORS   Suchi M, Harada N, Tsuboi T, Asai K, Okajima K, Wada Y and Takagi Y.
  TITLE     Molecular cloning of human UMP synthase
  JOURNAL   Adv Exp Med Biol 253A, 511-518 (1989)
   PUBMED   2624233
REFERENCE   8  (bases 1 to 6652)
  AUTHORS   Suttle DP, Bugg BY, Winkler JK and Kanalas JJ.
  TITLE     Molecular cloning and nucleotide sequence for the complete coding
            region of human UMP synthase
  JOURNAL   Proc Natl Acad Sci U S A 85 (6), 1754-1758 (1988)
   PUBMED   3279416
REFERENCE   9  (bases 1 to 6652)
  AUTHORS   Patterson,D., Jones,C., Morse,H., Rumsby,P., Miller,Y. and Davis,R.
  TITLE     Structural gene coding for multifunctional protein carrying orotate
            phosphoribosyltransferase and OMP decarboxylase activity is located
            on long arm of human chromosome 3
  JOURNAL   Somatic Cell Genet 9 (3), 359-374 (1983)
   PUBMED   6574608
REFERENCE   10  (bases 1 to 6652)
  AUTHORS   McClard,R.W., Black,M.J., Livingstone,L.R. and Jones,M.E.
  TITLE     Isolation and initial characterization of the single polypeptide
            that synthesizes uridine 5'-monophosphate from orotate in Ehrlich
            ascites carcinoma. Purification by tandem affinity chromatography of
            uridine-5'-monophosphate synthase
  JOURNAL   Biochemistry 19 (20), 4699-4706 (1980)
   PUBMED   6893554
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: EU921886.1, SRR1660807.20671.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000232607.7/ ENSP00000232607.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC007511.2 and AC022336.12.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000373.3.
            Summary: This gene encodes a uridine 5'-monophosphate synthase. The
            encoded protein is a bifunctional enzyme that catalyzes the final
            two steps of the de novo pyrimidine biosynthetic pathway. The first
            reaction is carried out by the N-terminal enzyme orotate
            phosphoribosyltransferase which converts orotic acid to
            orotidine-5'-monophosphate. The terminal reaction is carried out by
            the C-terminal enzyme OMP decarboxylase which converts
            orotidine-5'-monophosphate to uridine monophosphate. Defects in
            this gene are the cause of hereditary orotic aciduria. Alternate
            splicing results in multiple transcript variants. [provided by
            RefSeq, Mar 2010].
            Transcript Variant: This variant (1) encodes the functional
            protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6652
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.2"
     gene            1..6652
                     /gene="UMPS"
                     /gene_synonym="OPRT"
                     /note="uridine monophosphate synthetase"
                     /db_xref="GeneID:7372"
                     /db_xref="HGNC:HGNC:12563"
                     /db_xref="MIM:613891"
     CDS             21..1463
                     /gene="UMPS"
                     /gene_synonym="OPRT"
                     /EC_number="2.4.2.10"
                     /EC_number="4.1.1.23"
                     /note="orotate phosphoribosyltransferase; OPRTase;
                     orotidine 5'-phosphate decarboxylase; UMP synthase;
                     OMPdecase"
                     /codon_start=1
                     /product="uridine 5'-monophosphate synthase"
                     /protein_id="NP_000364.1"
                     /db_xref="CCDS:CCDS3029.1"
                     /db_xref="GeneID:7372"
                     /db_xref="HGNC:HGNC:12563"
                     /db_xref="MIM:613891"
                     /translation="MAVARAALGPLVTGLYDVQAFKFGDFVLKSGLSSPIYIDLRGIVS
                     RPRLLSQVADILFQTAQNAGISFDTVCGVPYTALPLATVICSTNQIPMLIRRKETKDYG
                     TKRLVEGTINPGETCLIIEDVVTSGSSVLETVEVLQKEGLKVTDAIVLLDREQGGKDKL
                     QAHGIRLHSVCTLSKMLEILEQQKKVDAETVGRVKRFIQENVFVAANHNGSPLSIKEAP
                     KELSFGARAELPRIHPVASKLLRLMQKKETNLCLSADVSLARELLQLADALGPSICMLK
                     THVDILNDFTLDVMKELITLAKCHEFLIFEDRKFADIGNTVKKQYEGGIFKIASWADLV
                     NAHVVPGSGVVKGLQEVGLPLHRGCLLIAEMSSTGSLATGDYTRAAVRMAEEHSEFVVG
                     FISGSRVSMKPEFLHLTPGVQLEAGGDNLGQQYNSPQEVIGKRGSDIIIVGRGIISAAD
                     RLEAAEMYRKAAWEAYLSRLGV"
     misc_feature    24..662
                     /gene="UMPS"
                     /gene_synonym="OPRT"
                     /note="propagated from UniProtKB/Swiss-Prot (P11172.1);
                     Region: OPRTase"
     misc_feature    24..26
                     /gene="UMPS"
                     /gene_synonym="OPRT"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P11172.1); acetylation site"
     misc_feature    129..131
                     /gene="UMPS"
                     /gene_synonym="OPRT"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P11172.1); phosphorylation site"
     misc_feature    660..662
                     /gene="UMPS"
                     /gene_synonym="OPRT"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P11172.1);
                     phosphorylation site"
     misc_feature    663..680
                     /gene="UMPS"
                     /gene_synonym="OPRT"
                     /note="propagated from UniProtKB/Swiss-Prot (P11172.1);
                     Region: Domain linker"
     misc_feature    681..1460
                     /gene="UMPS"
                     /gene_synonym="OPRT"
                     /note="propagated from UniProtKB/Swiss-Prot (P11172.1);
                     Region: OMPdecase"
     regulatory      1657..1662
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UMPS"
                     /gene_synonym="OPRT"
                     /note="hexamer: AATAAG"
     polyA_site      1673
                     /gene="UMPS"
                     /gene_synonym="OPRT"
                     /note="major polyA site"
     regulatory      5651..5656
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UMPS"
                     /gene_synonym="OPRT"
                     /note="hexamer: ATTAAA"
     polyA_site      5677
                     /gene="UMPS"
                     /gene_synonym="OPRT"
     regulatory      6630..6635
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UMPS"
                     /gene_synonym="OPRT"
                     /note="hexamer: AATAGA"
     polyA_site      6652
                     /gene="UMPS"
                     /gene_synonym="OPRT"
ORIGIN
        1 caaacaggca gcgcgcgaca atggcggtcg ctcgtgcagc tttggggcca ttggtgacgg
       61 gtctgtacga cgtgcaggct ttcaagtttg gggacttcgt gctgaagagc gggctttcct
      121 cccccatcta catcgatctg cggggcatcg tgtctcgacc gcgtcttctg agtcaggttg
      181 cagatatttt attccaaact gcccaaaatg caggcatcag ttttgacacc gtgtgtggag
      241 tgccttatac agctttgcca ttggctacag ttatctgttc aaccaatcaa attccaatgc
      301 ttattagaag gaaagaaaca aaggattatg gaactaagcg tcttgtagaa ggaactatta
      361 atccaggaga aacctgttta atcattgaag atgttgtcac cagtggatct agtgttttgg
      421 aaactgttga ggttcttcag aaggagggct tgaaggtcac tgatgccata gtgctgttgg
      481 acagagagca gggaggcaag gacaagttgc aggcgcacgg gatccgcctc cactcagtgt
      541 gtacattgtc caaaatgctg gagattctcg agcagcagaa aaaagttgat gctgagacag
      601 ttgggagagt gaagaggttt attcaggaga atgtctttgt ggcagcgaat cataatggtt
      661 ctcccctttc tataaaggaa gcacccaaag aactcagctt cggtgcacgt gcagagctgc
      721 ccaggatcca cccagttgca tcgaagcttc tcaggcttat gcaaaagaag gagaccaatc
      781 tgtgtctatc tgctgatgtt tcactggcca gagagctgtt gcagctagca gatgctttag
      841 gacctagtat ctgcatgctg aagactcatg tagatatttt gaatgatttt actctggatg
      901 tgatgaagga gttgataact ctggcaaaat gccatgagtt cttgatattt gaagaccgga
      961 agtttgcaga tataggaaac acagtgaaaa agcagtatga aggaggtatc tttaaaatag
     1021 cttcctgggc agatctagta aatgctcacg tggtgccagg ctcaggagtt gtgaaaggcc
     1081 tgcaagaagt gggcctgcct ttgcatcggg ggtgcctcct tattgcggaa atgagctcca
     1141 ccggctccct ggccactggg gactacacta gagcagcggt tagaatggct gaggagcact
     1201 ctgaatttgt tgttggtttt atttctggct cccgagtaag catgaaacca gaatttcttc
     1261 acttgactcc aggagttcag ttggaagcag gaggagataa tcttggccaa cagtacaata
     1321 gcccacaaga agttattggc aaacgaggtt ccgatatcat cattgtaggt cgtggcataa
     1381 tctcagcagc tgatcgtctg gaagcagcag agatgtacag aaaagctgct tgggaagcgt
     1441 atttgagtag acttggtgtt tgagtgcttc agatacattt ttcagataca atgtgaagac
     1501 attgaagata tgtggtcctc ctgaaagtca ctggctggaa ataatccaat tattcctgct
     1561 tggattcttc cacagggcct gtgtaagaat gggttctgga gttctcatgg tctttaggaa
     1621 atattgagta atttgtaatc accgcattga tactataata agttcattct taagcttgct
     1681 ttttttgaga ctggtgtttg ttagacagcc acagtcctgt ctgggttagg gtcttccaca
     1741 tttgaggatc cttcctatct ctccatggga ctagactgct ttgttattct atttattttt
     1801 taattttttt cgagacagga tctcactctg ttgcccagga tggagtgcag tggtgagatc
     1861 acggctcatt gcagcctcga cctcccaggt gatcctccca cctcagcttc cagattagct
     1921 ggtgctatag gcatgcacca ccacgtccat ctaaatttct ttattatttg tagagatgag
     1981 gtcttgccat gttacccagg ctggtctcaa ctcctgggct caagcgatcc tcctgcctca
     2041 gtctctcaaa gtgctgggat tacaggtgtg agccactgtg cccagcctaa ttgcagtaag
     2101 acaaaaattc tagggcacca agaggctaaa gtcagcacag cttttcttgt gtcctgtatt
     2161 ctctgtctaa tgtgttgccc aaataatacc taattgttag ccattcccct ccatctctgg
     2221 cctaaaagtg atagtccagg tatccacatg ggctggttcc cagaactgcc attgctcact
     2281 ctccaaagag gggaaggtgg ggaaggggaa ggtgactata gctcagctcc tgagctagta
     2341 tctggctgtt atttcaacaa ccggagttgg ggtttgggct cattttttcc cctagccagc
     2401 aattatggac cagtagtaac acaagtgaca gcttcctgtg actgacttca caattaggag
     2461 gtctaagatt ccatttgggt atttgcttaa ggatcccaca taattgtccc aacggtcatt
     2521 agtagagggg aggtaagcct tcattaataa taaagagaaa gcccacattc aaggtggtgt
     2581 ttgagcaggg gcagggtgag ggctgtcccg gtgctcattg caccagcaca ctcacattcc
     2641 ttctcatttg gggcccacct gcaggaagtg gcacaggatc agccatttcc ccacccttgt
     2701 cagctgatgg cccactgttc tttaatgact cagaggaatg cctaggattt tttttttttt
     2761 ttgagacaga atctcactgt cgcccaggct ggagttcagt ggcacgatct cggctcactg
     2821 caacttctgc ctctctggtt caagcagttc tcctgcctca gcctcccgag tagctgggac
     2881 tacaagccta ggatttttaa ctcaggtttt tattatattc cctcctgaag tttttacttc
     2941 aagagcttct gctctaaagt ccaatttggg cttcatgtcc ccagtgctgc atctccaggg
     3001 aaatgctgtc tgtgggagag accaactctc aaggaagaag tggccacaga aggagcagga
     3061 agggagttgg ccctcagggc tactctgggg aagccaaaag tcatgaaggg gagaagaatt
     3121 ttctgacaaa aacttgcagg aatctcttag gtgtcttcag tgttggagtg atatgttgag
     3181 aggcctttgg agtgatgtgc tgaggtctca ggcgcccacc tccctggctg tcacttccat
     3241 gtgtcagtgg ttctcccact ttagcaggta tcagagtcac ctggagtctt gtcaaaacag
     3301 gtaccagccc cacccgcagc gtttctgact ctgggtagct ctgggatggg gcttgagaat
     3361 ttgcgtttcc aaaaaggtcc caggtgatgc tgcggttgcc tgcgcaggga ctggactttg
     3421 agaaccactt cactggttat tcacatttct gcctctgcag tgagacagcc ttgaggtctg
     3481 cctcctgcta agagtcacat gctcctgtcc tttagaaatg tgggctcctg ccatctccag
     3541 gacgcaggca ctgttcctgt tgatgaaccc tatttcacag gacccctgct aaggtgattt
     3601 gaggggaaat gagaggaggc tcaaataatc acccagcccc tgccacttac tgaaagtgta
     3661 ggtccttgtg ccccacacca tcagagtttc tgcgttagca gatttgtggt ttgcccagca
     3721 gcctgggcgt gtgcatttct aatgggtgcc tcaagtgatc tgtttctgat ttgtatttct
     3781 attgtgaaga gtcagcccag tactgcaggc ctcttaccta agcagaatcc cagtctggca
     3841 tcaaagcttt agaggacaag ttgattcagg cagagaagaa cttgggctat acaagcgctg
     3901 ttcttcagca ttgaagtatt ttggaggcat tagatagttt aaccctttct cagtcaagga
     3961 atatttacag aacatgatct ctgggcattg taactcctgg tcttagtggg gaatataggg
     4021 accccatgtc tccatggggt gcacagaatg tctgtgagac tgatggagtg gagaacgcca
     4081 tcccccagcc tctccagcta ctcgaggcat tctgtagaac ataagcccat agattgtgtg
     4141 tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg tgtgtgcatg cgcgcgcgtg cgcactggag
     4201 gaacctaaga aactatttgg tgcacttcct cttattttag agctcccaaa gtgtagctcc
     4261 agaatcgtaa agggatatgc tcagtctcac agccagcctg tggatctcag tcccaacact
     4321 cacccttgtg ctactgagtc agctctaaga aaatctgcca aaagtaggcc gagggctggt
     4381 tttttgtttt gttttgtttg tttgatacag ggtcttcact ctgttgccca ggctggagta
     4441 tatcatggct cactgcaacc ttgacttggg ctcaagcgat ccgctcaagt agctggaact
     4501 actctcaagt agctctcaag agcctctcga gtggctggaa ctacaggcgt gcaccaccac
     4561 agctggttaa tttttaaaat tttttgtaga gacggtggag gaggttctca ctgtgactca
     4621 gtgtgtgccc gacagcagag cccacaccac tccagttgca gtggttgcca tctgggtcat
     4681 cagacctggc tgtcaggggt gcagccacag gagagccaac agcagagggt gctggccgct
     4741 gagctagctg ctaatgctgg cctgggtgca gttctcatcc aaagtacccg gtgggtggga
     4801 gtcactcagt accagttccg agcctgaacc caaactctcg tgtttctgct cacccctctc
     4861 tggcttctgc caccacatgg gaagaatatg ccctggttag cccatggctt ctgaagagca
     4921 agagaaagta gagcagagcc tactccagcc tcccccgtcc aatgtatgaa agccccagct
     4981 gatctgtaag cctgggagcg tgataaatgc ttagtagtgc atgccatgga gttccagggt
     5041 ggtttattac acggcaatat ctagctaaat acatttaact tgctgcagct ctctggatcc
     5101 agcctggtta ccaggaagac aaaaactggg ctccaccagg aaccagtctt ctgccttccc
     5161 aaccatcacc tctggctgca tcagcgatct ctcccagcga aatagctgct tggtcttgtg
     5221 tgaatcctgt actttaacac agtggaccaa gtgtcagtca ttgaaaatga ccatgagtaa
     5281 ccctgtggac tctctgcagc ttggttcctt tgccccttaa caggtgggta tgaatcgtgt
     5341 cttcagtgcc agggctgaat gagaaagggc attccttttt gaaggaatct gatactaaac
     5401 acaaagcatg agaaaaatca ggacttgttg gagttatatt tttaaaatat atattttaac
     5461 agttatatat attagatata atatataata gtatatataa ataatactat attgcccagg
     5521 ctggtctcga actccttagc tcaagtgatc ctcctgcctt ggcttcccaa agtgctagga
     5581 ttacaggtgt gagccactgc tcccggcctg ttggagttct ttacatttat tttataatca
     5641 atgctgtttt attaaatgcg gattttattt tggattacag gatgtagaat gccatatttt
     5701 tcttagatca tagggccttt cacatttgta atttggcctt gtatgagtta ccctgcaatc
     5761 cctttgtttt ccccataacc cttccaaagg aaggccgcaa tagaaataca aagagaaaca
     5821 aaataattag aatatttttt aacttctaaa gttcaaggtt ttggcataag tctggtttag
     5881 aagcacattt gcctagccct ttccttccca ccaaggggga aagtcttcct ctagacaaga
     5941 ggcagagggc tcctcagagt cagatcctgg tgtgggctct cacgtgctgc tgctgaatcc
     6001 cagggaagga gggaggaagg gcagttgaca cccaaaataa gggtggggaa ctgtcagcag
     6061 aggaggtctg tgtcatgttt ttcagcgctg gggttggggg gagcccagga gagcaggaag
     6121 atccagagat ccctcgcccc agctcggcca tgtgtgtctg ggacagagcc tgaggtggcc
     6181 tgagcttcct gtggctccag agtaacatta tagagaagct gaattctcct gtttttctga
     6241 aaagggcatg ggagttagct gagaagcaga cctggtgggc ctgagagtct caatcgtcag
     6301 gtaaggacag tcagtgggaa gtggacgggc cgcacaacca aggttctcat gaggacaacc
     6361 atgtcttcgg gggtgccctt gtgcacagac agctccatag tcctgcctcc aatgtcccaa
     6421 cactgcattg tctccctgca cttagcagcc ctgcagggtg agacttgggg aggatcctga
     6481 aatgattgta tttaacaaga catgctgtcc ttgtttacct ggaacctagc aatgttgttt
     6541 tctgccacaa cttgaataga tacttgaagc agagatgatg ttgagttaaa aaaaatatat
     6601 acataaaaat atgggttctt ttcaacctga atagatggcc taaaaattca aa
//
LOCUS       NM_000374               1193 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens uroporphyrinogen decarboxylase (UROD), transcript
            variant 1, mRNA.
ACCESSION   NM_000374
VERSION     NM_000374.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1193)
  AUTHORS   Cunha L, Kuti M, Bishop DF, Mezei M, Zeng L, Zhou MM and Desnick RJ.
  TITLE     Human uroporphyrinogen III synthase: NMR-based mapping of the active
            site
  JOURNAL   Proteins 71 (2), 855-873 (2008)
   PUBMED   18004775
REFERENCE   2  (bases 1 to 1193)
  AUTHORS   Whitby FG, Phillips JD, Kushner JP and Hill CP.
  TITLE     Crystal structure of human uroporphyrinogen decarboxylase
  JOURNAL   EMBO J 17 (9), 2463-2471 (1998)
   PUBMED   9564029
REFERENCE   3  (bases 1 to 1193)
  AUTHORS   Rudnick S, Phillips J and Bonkovsky H.
  CONSRTM   Porphyrias Consortium of the Rare Diseases Clinical Research Network
  TITLE     Hepatoerythropoietic Porphyria
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24175354
REFERENCE   4  (bases 1 to 1193)
  AUTHORS   Rudnick S, Phillips J and Bonkovsky H.
  CONSRTM   Porphyrias Consortium of the Rare Diseases Clinical Research Network
  TITLE     Familial Porphyria Cutanea Tarda
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   23741761
REFERENCE   5  (bases 1 to 1193)
  AUTHORS   de Verneuil H, Bourgeois F, de Rooij F, Siersema PD, Wilson JH,
            Grandchamp B and Nordmann Y.
  TITLE     Characterization of a new mutation (R292G) and a deletion at the
            human uroporphyrinogen decarboxylase locus in two patients with
            hepatoerythropoietic porphyria
  JOURNAL   Hum Genet 89 (5), 548-552 (1992)
   PUBMED   1634232
REFERENCE   6  (bases 1 to 1193)
  AUTHORS   Garey JR, Hansen JL, Harrison LM, Kennedy JB and Kushner JP.
  TITLE     A point mutation in the coding region of uroporphyrinogen
            decarboxylase associated with familial porphyria cutanea tarda
  JOURNAL   Blood 73 (4), 892-895 (1989)
   PUBMED   2920211
REFERENCE   7  (bases 1 to 1193)
  AUTHORS   Romana M, Dubart A, Beaupain D, Chabret C, Goossens M and Romeo PH.
  TITLE     Structure of the gene for human uroporphyrinogen decarboxylase
  JOURNAL   Nucleic Acids Res 15 (18), 7343-7356 (1987)
   PUBMED   3658695
REFERENCE   8  (bases 1 to 1193)
  AUTHORS   Romeo,P.H., Raich,N., Dubart,A., Beaupain,D., Pryor,M., Kushner,J.,
            Cohen-Solal,M. and Goossens,M.
  TITLE     Molecular cloning and nucleotide sequence of a complete human
            uroporphyrinogen decarboxylase cDNA
  JOURNAL   J Biol Chem 261 (21), 9825-9831 (1986)
   PUBMED   3015909
REFERENCE   9  (bases 1 to 1193)
  AUTHORS   Dubart,A., Mattei,M.G., Raich,N., Beaupain,D., Romeo,P.H.,
            Mattei,J.F. and Goossens,M.
  TITLE     Assignment of human uroporphyrinogen decarboxylase (URO-D) to the
            p34 band of chromosome 1
  JOURNAL   Hum Genet 73 (3), 277-279 (1986)
   PUBMED   3460962
REFERENCE   10  (bases 1 to 1193)
  AUTHORS   Elder,G.H., Lee,G.B. and Tovey,J.A.
  TITLE     Decreased activity of hepatic uroporphyrinogen decarboxylase in
            sporadic porphyria cutanea tarda
  JOURNAL   N Engl J Med 299 (6), 274-278 (1978)
   PUBMED   661926
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.6910.1, SRR5189658.54891.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000246337.9/ ENSP00000246337.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291877.1 and AL359473.22.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 21, 2018 this sequence version replaced NM_000374.4.
            Summary: This gene encodes an enzyme in the heme biosynthetic
            pathway. This enzyme is responsible for catalyzing the conversion
            of uroporphyrinogen to coproporphyrinogen through the removal of
            four carboxymethyl side chains. Mutations and deficiency in this
            enzyme are known to cause familial porphyria cutanea tarda and
            hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010].
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the functional protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1193
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..1193
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /note="uroporphyrinogen decarboxylase"
                     /db_xref="GeneID:7389"
                     /db_xref="HGNC:HGNC:12591"
                     /db_xref="MIM:613521"
     CDS             13..1116
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /EC_number="4.1.1.37"
                     /note="uroporphyrinogen III decarboxylase"
                     /codon_start=1
                     /product="uroporphyrinogen decarboxylase"
                     /protein_id="NP_000365.3"
                     /db_xref="CCDS:CCDS518.1"
                     /db_xref="GeneID:7389"
                     /db_xref="HGNC:HGNC:12591"
                     /db_xref="MIM:613521"
                     /translation="MEANGLGPQGFPELKNDTFLRAAWGEETDYTPVWCMRQAGRYLPE
                     FRETRAAQDFFSTCRSPEACCELTLQPLRRFPLDAAIIFSDILVVPQALGMEVTMVPGK
                     GPSFPEPLREEQDLERLRDPEVVASELGYVFQAITLTRQRLAGRVPLIGFAGAPWTLMT
                     YMVEGGGSSTMAQAKRWLYQRPQASHQLLRILTDALVPYLVGQVVAGAQALQLFESHAG
                     HLGPQLFNKFALPYIRDVAKQVKARLREAGLAPVPMIIFAKDGHFALEELAQAGYEVVG
                     LDWTVAPKKARECVGKTVTLQGNLDPCALYASEEEIGQLVKQMLDDFGPHRYIANLGHG
                     LYPDMDPEHVGAFVDAVHKHSRLLRQN"
     misc_feature    13..15
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (P06132.2);
                     acetylation site"
     misc_feature    268..270
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /note="Transition state stabilizer; propagated from
                     UniProtKB/Swiss-Prot (P06132.2); other site"
     regulatory      1173..1178
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /note="hexamer: AATAAA"
     polyA_site      1193
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /note="major polyA site"
ORIGIN
        1 agacagctga ccatggaagc gaatgggttg ggacctcagg gttttccgga gctgaagaat
       61 gacacattcc tgcgagcagc ctggggagag gaaacagact acactcccgt ttggtgcatg
      121 cgccaggcag gccgttactt accagagttt agggaaaccc gggctgccca ggactttttc
      181 agcacgtgtc gctctcctga ggcctgctgt gaactgactc tgcagccact gcgtcgcttc
      241 cctctggatg ctgccatcat tttctccgac atccttgttg taccccaggc actgggcatg
      301 gaggtgacca tggtacctgg caaaggaccc agcttcccag agccattaag agaagagcag
      361 gacctagaac gcctacggga tccagaagtg gtagcctctg agctaggcta tgtgttccaa
      421 gccatcaccc ttacccgaca acgactggct ggacgtgtgc cgctgattgg ctttgctggt
      481 gccccatgga ccctgatgac atacatggtt gagggtggtg gctcaagcac catggctcag
      541 gccaagcgct ggctctatca gagacctcag gctagtcacc agctgcttcg catcctcact
      601 gatgctctgg tcccatatct ggtaggacaa gtggtggctg gtgcccaggc attgcagctg
      661 tttgagtccc atgcagggca tcttggccca cagctcttca acaagtttgc actgccttac
      721 atccgtgatg tggccaagca agtgaaggcc aggttgcggg aggcaggcct ggcaccagtg
      781 cccatgatca tctttgctaa ggatgggcat tttgccctgg aggagctggc ccaagctggc
      841 tatgaggtgg ttgggcttga ctggacagtg gccccaaaga aagcccggga gtgtgtgggg
      901 aagacggtga cattgcaggg caacctggac ccctgtgcct tgtatgcatc tgaggaggag
      961 atcgggcagt tggtgaagca gatgctggat gactttggac cacatcgcta cattgccaac
     1021 ctgggccatg ggctttatcc tgacatggac ccagaacatg tgggcgcctt tgtggatgct
     1081 gtgcataaac actcacgtct gcttcgacag aactgagtgt atacctttac cctcaagtac
     1141 cactaacaca gatgattgat cgtttccagg acaataaaag tttcggagtt gaa
//
LOCUS       NM_000375               1336 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens uroporphyrinogen III synthase (UROS), transcript
            variant 2, mRNA.
ACCESSION   NM_000375
VERSION     NM_000375.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1336)
  AUTHORS   Weiss Y, Balwani M, Chen B, Yasuda M, Nazarenko I and Desnick RJ.
  TITLE     Congenital erythropoietic porphyria and erythropoietic
            protoporphyria: Identification of 7 uroporphyrinogen III synthase
            and 20 ferrochelatase novel mutations
  JOURNAL   Mol Genet Metab 128 (3), 358-362 (2019)
   PUBMED   30454868
  REMARK    GeneRIF: These results expand the molecular heterogeneity of the
            erythropoietic porphyrias by adding a total of 7 novel mutations in
            uroporphyrinogen III synthase.
REFERENCE   2  (bases 1 to 1336)
  AUTHORS   Blouin JM, Bernardo-Seisdedos G, Sasso E, Esteve J, Ged C, Lalanne
            M, Sanz-Parra A, Urquiza P, de Verneuil H, Millet O and Richard E.
  TITLE     Missense UROS mutations causing congenital erythropoietic porphyria
            reduce UROS homeostasis that can be rescued by proteasome inhibition
  JOURNAL   Hum Mol Genet 26 (8), 1565-1576 (2017)
   PUBMED   28334762
  REMARK    GeneRIF: we show evidence that abnormal protein homeostasis is a
            prevalent mechanism responsible for UROS deficiency and that
            modulators of UROS proteolysis such as proteasome inhibitors or
            chemical chaperones may represent an attractive therapeutic option
            to reduce porphyrin accumulation and prevent skin photosensitivity
            in Congenital erythropoietic porphyria (CEP)patients when the
            genotype includes a missense variant.
REFERENCE   3  (bases 1 to 1336)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE,
            Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker SA,
            Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G,
            Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   4  (bases 1 to 1336)
  AUTHORS   Moghbeli M, Maleknejad M, Arabi A and Abbaszadegan MR.
  TITLE     Mutational analysis of uroporphyrinogen III cosynthase gene in
            Iranian families with congenital erythropoietic porphyria
  JOURNAL   Mol Biol Rep 39 (6), 6731-6735 (2012)
   PUBMED   22350154
  REMARK    GeneRIF: A, T to C change at nucleotide 34313, leading to a
            substitution of Leucine by Proline at codon 237, was observed in the
            homozygous state in a family with congenital erythropoietic
            porphyria.
REFERENCE   5  (bases 1 to 1336)
  AUTHORS   Fortian A, Castano D, Gonzalez E, Lain A, Falcon-Perez JM and Millet
            O.
  TITLE     Structural, thermodynamic, and mechanistical studies in
            uroporphyrinogen III synthase: molecular basis of congenital
            erythropoietic porphyria
  JOURNAL   Adv Protein Chem Struct Biol 83, 43-74 (2011)
   PUBMED   21570665
  REMARK    GeneRIF: REVIEW: Structural, thermodynamic, and mechanistical
            studies in uroporphyrinogen III synthase and molecular basis of
            congenital erythropoietic porphyria Review article
REFERENCE   6  (bases 1 to 1336)
  AUTHORS   Erwin A, Balwani M and Desnick RJ.
  CONSRTM   Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical
            Research Network
  TITLE     Congenital Erythropoietic Porphyria
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24027798
REFERENCE   7  (bases 1 to 1336)
  AUTHORS   Warner CA, Yoo HW, Roberts AG and Desnick RJ.
  TITLE     Congenital erythropoietic porphyria: identification and expression
            of exonic mutations in the uroporphyrinogen III synthase gene
  JOURNAL   J Clin Invest 89 (2), 693-700 (1992)
   PUBMED   1737856
REFERENCE   8  (bases 1 to 1336)
  AUTHORS   Boulechfar S, Da Silva V, Deybach JC, Nordmann Y, Grandchamp B and
            de Verneuil H.
  TITLE     Heterogeneity of mutations in the uroporphyrinogen III synthase gene
            in congenital erythropoietic porphyria
  JOURNAL   Hum Genet 88 (3), 320-324 (1992)
   PUBMED   1733834
REFERENCE   9  (bases 1 to 1336)
  AUTHORS   Astrin KH, Warner CA, Yoo HW, Goodfellow PJ, Tsai SF and Desnick RJ.
  TITLE     Regional assignment of the human uroporphyrinogen III synthase
            (UROS) gene to chromosome 10q25.2----q26.3
  JOURNAL   Hum Genet 87 (1), 18-22 (1991)
   PUBMED   2037278
REFERENCE   10  (bases 1 to 1336)
  AUTHORS   Deybach JC, de Verneuil H, Boulechfar S, Grandchamp B and Nordmann
            Y.
  TITLE     Point mutations in the uroporphyrinogen III synthase gene in
            congenital erythropoietic porphyria (Gunther's disease)
  JOURNAL   Blood 75 (9), 1763-1765 (1990)
   PUBMED   2331520
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.258208.1,
            SRR7346977.336370.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368797.10/ ENSP00000357787.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DR156879.1 and BC002573.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 23, 2018 this sequence version replaced NM_000375.2.
            Summary: The protein encoded by this gene catalyzes the fourth step
            of porphyrin biosynthesis in the heme biosynthetic pathway. Defects
            in this gene cause congenital erythropoietic porphyria (Gunther's
            disease). [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1336
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.2"
     gene            1..1336
                     /gene="UROS"
                     /gene_synonym="UROIIIS"
                     /note="uroporphyrinogen III synthase"
                     /db_xref="GeneID:7390"
                     /db_xref="HGNC:HGNC:12592"
                     /db_xref="MIM:606938"
     CDS             257..1054
                     /gene="UROS"
                     /gene_synonym="UROIIIS"
                     /EC_number="4.2.1.75"
                     /note="isoform 2 is encoded by transcript variant 2;
                     uroporphyrinogen-III cosynthase; hydroxymethylbilane
                     hydrolyase"
                     /codon_start=1
                     /product="uroporphyrinogen-III synthase isoform 2"
                     /protein_id="NP_000366.1"
                     /db_xref="CCDS:CCDS7648.1"
                     /db_xref="GeneID:7390"
                     /db_xref="HGNC:HGNC:12592"
                     /db_xref="MIM:606938"
                     /translation="MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPS
                     FSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKTEVWERSLKEKWNAKSVYVVGNATA
                     SLVSKIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGIAME
                     SITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKFA
                     AIGPTTARALAAQGLPVSCTAESPTPQALATGIRKALQPHGCC"
     regulatory      1313..1318
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UROS"
                     /gene_synonym="UROIIIS"
                     /note="hexamer: AATAAA"
     polyA_site      1336
                     /gene="UROS"
                     /gene_synonym="UROIIIS"
                     /note="major polyA site"
ORIGIN
        1 gcatgcgcga gcgcctagct gcgcgcagcc acccacgcga ccccagtctg aggtgcgggg
       61 tcctggggcc cggcgcgggt ggccgccgcg gcccctcggg ctgcgtgggg agggggcttc
      121 cgcccctgtt gtcattgctc ctgcagcctt ttcgctggga ctgcgcgaca ccgccccccg
      181 accgggtgcc cgctgtgtgc caggccgggt gctgggcacg gtcccgcgag tgccctataa
      241 ggactgccag gcaataatga aggttctttt actgaaggat gcgaaggaag atgactgtgg
      301 ccaggatccg tatatcaggg aattaggatt atatggactt gaagccactt tgatccctgt
      361 tttatcgttt gagtttttgt ctcttcccag tttctctgag aagctttctc atcctgaaga
      421 ttacggggga ctcattttta ccagccccag agcagtggaa gcagcagagt tatgtttgga
      481 gcaaaacaat aaaactgaag tctgggaaag gtctctgaaa gaaaaatgga atgccaagtc
      541 agtgtatgtg gttggaaatg ctactgcttc tctagtgagt aaaattggcc tggatacaga
      601 aggagaaacc tgtggaaatg cagaaaagct tgcagaatat atttgttcca gggagtcctc
      661 agcactgcct cttctatttc cctgtggaaa cctcaaaaga gaaatcctgc caaaagcgct
      721 caaggacaaa gggattgcca tggaaagcat aactgtgtat cagacagttg cacacccagg
      781 aatccaaggg aacctgaaca gctactattc ccagcagggg gttccagcca gcatcacatt
      841 ttttagtccc tctggcctca catacagtct caagcacatt caggagttat ctggtgacaa
      901 tatcgatcaa attaagtttg cagccatcgg ccccactacg gctcgcgcgc tggccgccca
      961 gggccttcct gtaagctgca ctgcagagag ccccacgcca caagccctgg ccactggcat
     1021 caggaaggct ctccagcccc atggctgctg ctgagtcagc cacctagcgc tggccccatg
     1081 cagcctccct gggctgggct ggctctggat ggagccaggc atcggcaagg gctctcggga
     1141 gctgctgccg tcagactcct gcctcaagcc tgagtggaag cacctgagga ccggggatcg
     1201 ggacctgacc tggggctggc ctcaggccca cgtgcacgtg actgccctct gtggaagcca
     1261 gcttaaaccc tagccctgtg agagcttcct gtgcccagca ggaaggaagt caaataaacc
     1321 acactgacta cctgtg
//
LOCUS       NM_000376               4616 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens vitamin D receptor (VDR), transcript variant 1, mRNA.
ACCESSION   NM_000376
VERSION     NM_000376.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4616)
  AUTHORS   Cierny D, Dobrota D, Kantorova E, Malicherova B, Skerenova M, Javor
            J, Kurca E and Lehotsky J.
  TITLE     Analysis of Cdx2 VDR gene polymorphism rs11568820 in association
            with multiple sclerosis in Slovaks
  JOURNAL   Neurol Res 45 (10), 912-918 (2023)
   PUBMED   37581270
  REMARK    GeneRIF: Analysis of Cdx2 VDR gene polymorphism rs11568820 in
            association with multiple sclerosis in Slovaks.
REFERENCE   2  (bases 1 to 4616)
  AUTHORS   Guerini FR, Agliardi C, Oreni L, Groppo E, Bolognesi E, Zanzottera
            M, Caputo D, Rovaris M and Clerici M.
  TITLE     Vitamin D Receptor Gene Polymorphism Predicts the Outcome of
            Multidisciplinary Rehabilitation in Multiple Sclerosis Patients
  JOURNAL   Int J Mol Sci 24 (17), 13379 (2023)
   PUBMED   37686183
  REMARK    GeneRIF: Vitamin D Receptor Gene Polymorphism Predicts the Outcome
            of Multidisciplinary Rehabilitation in Multiple Sclerosis Patients.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4616)
  AUTHORS   Hussein MM, Mohamed EM, Kamal TM and Deraz TE.
  TITLE     Increased susceptibility to complicated pneumonia among egyptian
            children with FokI (rs2228570), not TaqI (rs731236), vitamin D
            receptor gene polymorphism in association with vitamin D deficiency:
            a case-control study
  JOURNAL   BMC Pediatr 23 (1), 394 (2023)
   PUBMED   37559014
  REMARK    GeneRIF: Increased susceptibility to complicated pneumonia among
            egyptian children with FokI (rs2228570), not TaqI (rs731236),
            vitamin D receptor gene polymorphism in association with vitamin D
            deficiency: a case-control study. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4616)
  AUTHORS   Loughran G, Jungreis I, Tzani I, Power M, Dmitriev RI, Ivanov IP,
            Kellis M and Atkins JF.
  TITLE     Stop codon readthrough generates a C-terminally extended variant of
            the human vitamin D receptor with reduced calcitriol response
  JOURNAL   J Biol Chem 293 (12), 4434-4444 (2018)
   PUBMED   29386352
REFERENCE   5  (bases 1 to 4616)
  AUTHORS   Sunn KL, Cock TA, Crofts LA, Eisman JA and Gardiner EM.
  TITLE     Novel N-terminal variant of human VDR
  JOURNAL   Mol Endocrinol 15 (9), 1599-1609 (2001)
   PUBMED   11518809
REFERENCE   6  (bases 1 to 4616)
  AUTHORS   Crofts LA, Hancock MS, Morrison NA and Eisman JA.
  TITLE     Multiple promoters direct the tissue-specific expression of novel
            N-terminal variant human vitamin D receptor gene transcripts
  JOURNAL   Proc Natl Acad Sci U S A 95 (18), 10529-10534 (1998)
   PUBMED   9724737
REFERENCE   7  (bases 1 to 4616)
  AUTHORS   Miyamoto K, Kesterson RA, Yamamoto H, Taketani Y, Nishiwaki E,
            Tatsumi S, Inoue Y, Morita K, Takeda E and Pike JW.
  TITLE     Structural organization of the human vitamin D receptor chromosomal
            gene and its promoter
  JOURNAL   Mol Endocrinol 11 (8), 1165-1179 (1997)
   PUBMED   9212063
REFERENCE   8  (bases 1 to 4616)
  AUTHORS   Goto H, Chen KS, Prahl JM and DeLuca HF.
  TITLE     A single receptor identical with that from intestine/T47D cells
            mediates the action of 1,25-dihydroxyvitamin D-3 in HL-60 cells
  JOURNAL   Biochim Biophys Acta 1132 (1), 103-108 (1992)
   PUBMED   1324736
REFERENCE   9  (bases 1 to 4616)
  AUTHORS   Bugge TH, Pohl J, Lonnoy O and Stunnenberg HG.
  TITLE     RXR alpha, a promiscuous partner of retinoic acid and thyroid
            hormone receptors
  JOURNAL   EMBO J 11 (4), 1409-1418 (1992)
   PUBMED   1314167
REFERENCE   10  (bases 1 to 4616)
  AUTHORS   Saijo T, Ito M, Takeda E, Huq AH, Naito E, Yokota I, Sone T, Pike JW
            and Kuroda Y.
  TITLE     A unique mutation in the vitamin D receptor gene in three Japanese
            patients with vitamin D-dependent rickets type II: utility of
            single-strand conformation polymorphism analysis for heterozygous
            carrier detection
  JOURNAL   Am J Hum Genet 49 (3), 668-673 (1991)
   PUBMED   1652893
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: J03258.1, AK225844.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000549336.6/ ENSP00000449573.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CF138099.1, BC060832.1,
            AC004466.1, J03258.1, BM908433.1 and BQ002808.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000376.2.
            Summary: This gene encodes vitamin D3 receptor, which is a member
            of the nuclear hormone receptor superfamily of ligand-inducible
            transcription factors. This receptor also functions as a receptor
            for the secondary bile acid, lithocholic acid. Downstream targets
            of vitamin D3 receptor are principally involved in mineral
            metabolism, though this receptor regulates a variety of other
            metabolic pathways, such as those involved in immune response and
            cancer. Mutations in this gene are associated with type II vitamin
            D-resistant rickets. A single nucleotide polymorphism in the
            initiation codon results in an alternate translation start site
            three codons downstream. Alternatively spliced transcript variants
            encoding different isoforms have been described for this gene. A
            recent study provided evidence for translational readthrough in
            this gene, and expression of an additional C-terminally extended
            isoform via the use of an alternative in-frame translation
            termination codon. [provided by RefSeq, Jun 2018].
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes two isoforms, which result from the use of
            alternative in-frame translation termination codons. The shorter
            isoform (VDRA, also known as VDR) results from translation
            termination at the upstream UGA stop codon, while the longer
            isoform (VDRAx, also known as VDRx) results from UGA stop codon
            readthrough to the downstream UGA termination codon. This RefSeq
            represents the shorter isoform (VDRA). Variants 1 and 2 encode the
            same isoform.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4616
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.11"
     gene            1..4616
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="vitamin D receptor"
                     /db_xref="GeneID:7421"
                     /db_xref="HGNC:HGNC:12679"
                     /db_xref="MIM:601769"
     CDS             124..1407
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="isoform VDRA is encoded by transcript variant 1;
                     vitamin D3 receptor; vitamin D (1,25- dihydroxyvitamin D3)
                     receptor; 1,25-dihydroxyvitamin D3 receptor; nuclear
                     receptor subfamily 1 group I member 1; protein phosphatase
                     1, regulatory subunit 163"
                     /codon_start=1
                     /product="vitamin D3 receptor isoform VDRA"
                     /protein_id="NP_000367.1"
                     /db_xref="CCDS:CCDS8757.1"
                     /db_xref="GeneID:7421"
                     /db_xref="HGNC:HGNC:12679"
                     /db_xref="MIM:601769"
                     /translation="MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCK
                     GFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKR
                     EMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGG
                     GSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELS
                     QLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFTM
                     DDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVS
                     PDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSK
                     QYRCLSFQPECSMKLTPLVLEVFGNEIS"
     misc_feature    133..135
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="Region: alternate start codon"
     misc_feature    412..501
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="propagated from UniProtKB/Swiss-Prot (P11473.1);
                     Region: Hinge. /evidence=ECO:0000269|PubMed:10678179"
     misc_feature    595..693
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="propagated from UniProtKB/Swiss-Prot (P11473.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    859..915
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="propagated from UniProtKB/Swiss-Prot (P11473.1);
                     Region: Interaction with coactivator LXXLL motif.
                     /evidence=ECO:0000250|UniProtKB:P13053"
     misc_feature    1369..1395
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="propagated from UniProtKB/Swiss-Prot (P11473.1);
                     Region: 9aaTAD. /evidence=ECO:0000269|PubMed:30468856"
     misc_feature    1606..1608
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="alternative translation termination codon, use of
                     which results in the longer, C-terminally extended isoform
                     VDRAx"
     regulatory      4594..4599
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="hexamer: AATAAA"
     polyA_site      4616
                     /gene="VDR"
                     /gene_synonym="NR1I1; PPP1R163"
                     /note="major polyA site"
ORIGIN
        1 gggagcgcgg aacagcttgt ccacccgccg gccggaccag aagcctttgg gtctgaagtg
       61 tctgtgagac ctcacagaag agcacccctg ggctccactt acctgccccc tgctccttca
      121 gggatggagg caatggcggc cagcacttcc ctgcctgacc ctggagactt tgaccggaac
      181 gtgccccgga tctgtggggt gtgtggagac cgagccactg gctttcactt caatgctatg
      241 acctgtgaag gctgcaaagg cttcttcagg cgaagcatga agcggaaggc actattcacc
      301 tgccccttca acggggactg ccgcatcacc aaggacaacc gacgccactg ccaggcctgc
      361 cggctcaaac gctgtgtgga catcggcatg atgaaggagt tcattctgac agatgaggaa
      421 gtgcagagga agcgggagat gatcctgaag cggaaggagg aggaggcctt gaaggacagt
      481 ctgcggccca agctgtctga ggagcagcag cgcatcattg ccatactgct ggacgcccac
      541 cataagacct acgaccccac ctactccgac ttctgccagt tccggcctcc agttcgtgtg
      601 aatgatggtg gagggagcca tccttccagg cccaactcca gacacactcc cagcttctct
      661 ggggactcct cctcctcctg ctcagatcac tgtatcacct cttcagacat gatggactcg
      721 tccagcttct ccaatctgga tctgagtgaa gaagattcag atgacccttc tgtgacccta
      781 gagctgtccc agctctccat gctgccccac ctggctgacc tggtcagtta cagcatccaa
      841 aaggtcattg gctttgctaa gatgatacca ggattcagag acctcacctc tgaggaccag
      901 atcgtactgc tgaagtcaag tgccattgag gtcatcatgt tgcgctccaa tgagtccttc
      961 accatggacg acatgtcctg gacctgtggc aaccaagact acaagtaccg cgtcagtgac
     1021 gtgaccaaag ccggacacag cctggagctg attgagcccc tcatcaagtt ccaggtggga
     1081 ctgaagaagc tgaacttgca tgaggaggag catgtcctgc tcatggccat ctgcatcgtc
     1141 tccccagatc gtcctggggt gcaggacgcc gcgctgattg aggccatcca ggaccgcctg
     1201 tccaacacac tgcagacgta catccgctgc cgccacccgc ccccgggcag ccacctgctc
     1261 tatgccaaga tgatccagaa gctagccgac ctgcgcagcc tcaatgagga gcactccaag
     1321 cagtaccgct gcctctcctt ccagcctgag tgcagcatga agctaacgcc ccttgtgctc
     1381 gaagtgtttg gcaatgagat ctcctgacta ggacagcctg tggcggtgcc tgggtggggc
     1441 tgctcctcca gggccacgtg ccaggcccgg ggctggcggc tactcagcag ccctcctcac
     1501 cccgtctggg gttcagcccc tcctctgcca cctcccctat ccacccagcc cattctctct
     1561 cctgtccaac ctaacccctt tcctgcgggc ttttccccgg tcccttgaga cctcagccat
     1621 gaggagttgc tgtttgtttg acaaagaaac ccaagtgggg gcagagggca gaggctggag
     1681 gcagggcctt gcccagagat gcctccaccg ctgcctaagt ggctgctgac tgatgttgag
     1741 ggaacagaca ggagaaatgc atccattcct cagggacaga gacacctgca cctcccccca
     1801 ctgcaggccc cgcttgtcca gcgcctagtg gggtctccct ctcctgccta ctcacgataa
     1861 ataatcggcc cacagctccc accccacccc cttcagtgcc caccaacatc ccattgccct
     1921 ggttatattc tcacgggcag tagctgtggt gaggtgggtt ttcttcccat cactggagca
     1981 ccaggcacga acccacctgc tgagagaccc aaggaggaaa aacagacaaa aacagcctca
     2041 cagaagaata tgacagctgt ccctgtcacc aagctcacag ttcctcgccc tgggtctaag
     2101 gggttggttg aggtggaagc cctccttcca cggatccatg tagcaggact gaattgtccc
     2161 cagtttgcag aaaagcacct gccgacctcg tcctccccct gccagtgcct tacctcctgc
     2221 ccaggagagc cagccctccc tgtcctcctc ggatcaccga gagtagccga gagcctgctc
     2281 ccccaccccc tccccagggg agagggtctg gagaagcagt gagccgcatc ttctccatct
     2341 ggcagggtgg gatggaggag aagaattttc agaccccagc ggctgagtca tgatctccct
     2401 gccgcctcaa tgtggttgca aggccgctgt tcacccacag ggctaagagc tagcgctgcc
     2461 gcaccccaga gtgtgggaag ggagagcggg gcagtctcgg gtggctagtc agagagagtg
     2521 tttgggggtt ccgtgatgta gggtaaggtg ccttcttatt ctcactccac cacccaaaag
     2581 tcaaaaggtg cctgtgaggc aggggcggag tgatacaact tcaagtgcat gctctctgca
     2641 gccagcccag cccagctggt gggaagcgtc tgtccgttta ctccaaggtg gggtctttgt
     2701 gagagtgagc tgtaggtgtg cgggaccggt acagaaaggc gttcttcgag gtggatcaca
     2761 gaggcttctt cagatcagtg cttgagtttg gggaatgcgg ccgcattccc tgagtcacca
     2821 ggaatgttaa agtcagtggg aacgtgactg ccccaactcc tggaagctgt gtccttgcac
     2881 ctgcatccgt agttccctga aaacccagag aggaatcaga cttcacactg caagagcctt
     2941 ggtgtccacc tggccccatg tctctcagaa ttcttcaggt ggaaaaacat ctgaaagcca
     3001 cgttccttac tgcagaatag catatatatc gcttaatctt aaatttatta gatatgagtt
     3061 gttttcagac tcagactcca tttgtattat agtctaatat acagggtagc aggtaccact
     3121 gatttggaga tatttatggg gggagaactt acattgtgaa acttctgtac attaattatt
     3181 attgctgttg ttattttaca agggtctagg gagagaccct tgtttgattt tagctgcaga
     3241 acgtattggt ccagcttgct cttcagtggg agaaaacact tgtaagttgc taaacgagtc
     3301 aatcccctca ttcaggaaaa ctgacagagg agggcgtgac tcacccaagc atatataact
     3361 agctagaagt gggccaggac aggcccggcg cggtggctca cgcctgtaat cccagcagtt
     3421 tgggaggtcg aggtaggtgg atcacctgag gtcgggagtt cgagaccaac ctgaccaaca
     3481 tggagaaacc ctgtctctat taaaaataca aaaaaaaaaa aaaaaaaaat agccgggcat
     3541 ggtggcgcaa gcctgtaatc ccagctactc aggaggctga ggcagaagaa ttgaacccag
     3601 gaggtggagg ttgcagtgag ctgagatcgt gccgttactc tccaacctgg acaacaagag
     3661 cgaaactccg tcttagaagt ggaccaggac aggaccagat tttggagtca tggtccggtg
     3721 tccttttcac tacaccatgt ttgagctcag acccccactc tcattcccca ggtggctgac
     3781 ccagtccctg ggggaagccc tggatttcag aaagagcaag tctggatctg ggaccctttc
     3841 cttccttccc tggcttgtaa ctccaccaac ccatcagaag gagaaggaag gagactcacc
     3901 tctgcctcaa tgtgaatcag accctacccc accacgatgt ggccctggcc tgctgggctc
     3961 tccacctcag ccttggataa tgctgttgcc tcatctataa catgcatttg tctttgtaat
     4021 gtcaccacct tcccagctct ccctctggcc ctgccttctt cggggaactc ctggaaatat
     4081 cagttactca gccctgggcc ccaccaccta ggccactcct ccaaaggaag tctaggagct
     4141 gggaggaaaa gaaaagaggg gaaaatgagt ttttatgggg ctgaacgggg agaaaaggtc
     4201 atcatcgatt ctactttaga atgagagtgt gaaatagaca tttgtaaatg taaaactttt
     4261 aaggtatatc attataactg aaggagaagg tgccccaaaa tgcaagattt tccacaagat
     4321 tcccagagac aggaaaatcc tctggctggc taactggaag catgtaggag aatccaagcg
     4381 aggtcaacag agaaggcagg aatgtgtggc agatttagtg aaagctagag atatggcagc
     4441 gaaaggatgt aaacagtgcc tgctgaatga tttccaaaga gaaaaaaagt ttgccagaag
     4501 tttgtcaagt caaccaatgt agaaagcttt gcttatggta ataaaaatgg ctcatactta
     4561 tatagcactt actttgttgc aagtactgct gtaaataaat gctttatgca aaccaa
//
LOCUS       NM_000377               1829 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens WASP actin nucleation promoting factor (WAS), mRNA.
ACCESSION   NM_000377
VERSION     NM_000377.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1829)
  AUTHORS   Velnati S, Centonze S, Rossino G, Purghe B, Antona A, Racca L, Mula
            S, Ruffo E, Malacarne V, Malerba M, Manfredi M, Graziani A and
            Baldanzi G.
  TITLE     Wiskott-Aldrich syndrome protein interacts and inhibits
            diacylglycerol kinase alpha promoting IL-2 induction
  JOURNAL   Front Immunol 14, 1043603 (2023)
   PUBMED   37138877
  REMARK    GeneRIF: Wiskott-Aldrich syndrome protein interacts and inhibits
            diacylglycerol kinase alpha promoting IL-2 induction. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1829)
  AUTHORS   Ji X, Hou X, Guo X, Sun Y, Ma F and Hao J.
  TITLE     Identification of a novel WAS mutation and the non-splicing effect
            of a second-site mutation in a Chinese pedigree with Wiskott-Aldrich
            syndrome
  JOURNAL   Orphanet J Rare Dis 17 (1), 447 (2022)
   PUBMED   36550574
  REMARK    GeneRIF: Identification of a novel WAS mutation and the non-splicing
            effect of a second-site mutation in a Chinese pedigree with
            Wiskott-Aldrich syndrome. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1829)
  AUTHORS   Han SS, Wen KK, Garcia-Rubio ML, Wold MS, Aguilera A, Niedzwiedz W
            and Vyas YM.
  TITLE     WASp modulates RPA function on single-stranded DNA in response to
            replication stress and DNA damage
  JOURNAL   Nat Commun 13 (1), 3743 (2022)
   PUBMED   35768435
  REMARK    GeneRIF: WASp modulates RPA function on single-stranded DNA in
            response to replication stress and DNA damage. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 1829)
  AUTHORS   He M, Saeed MB, Record J, Keszei M, Goncalves Pinho L,
            Vasconcelos-Fontes L, D'Aulerio R, Vieira R, Oliveira MMS, Geyer C,
            Bohaumilitzky L, Thiemann M, Deordieva E, Buedts L, Matias Lopes JP,
            Pershin D, Hammarstrom L, Xia Y, Zhao X, Cunningham-Rundles C,
            Thrasher AJ, Burns SO, Cotta-de-Almeida V, Liu C, Shcherbina A,
            Vandenberghe P and Westerberg LS.
  TITLE     Overactive WASp in X-linked neutropenia leads to aberrant B-cell
            division and accelerated plasma cell generation
  JOURNAL   J Allergy Clin Immunol 149 (3), 1069-1084 (2022)
   PUBMED   34384840
  REMARK    GeneRIF: Overactive WASp in X-linked neutropenia leads to aberrant
            B-cell division and accelerated plasma cell generation.
REFERENCE   5  (bases 1 to 1829)
  AUTHORS   Brunetti RM, Kockelkoren G, Raghavan P, Bell GRR, Britain D, Puri N,
            Collins SR, Leonetti MD, Stamou D and Weiner OD.
  TITLE     WASP integrates substrate topology and cell polarity to guide
            neutrophil migration
  JOURNAL   J Cell Biol 221 (2) (2022)
   PUBMED   34964841
  REMARK    GeneRIF: WASP integrates substrate topology and cell polarity to
            guide neutrophil migration.
REFERENCE   6  (bases 1 to 1829)
  AUTHORS   Rivero-Lezcano OM, Marcilla A, Sameshima JH and Robbins KC.
  TITLE     Wiskott-Aldrich syndrome protein physically associates with Nck
            through Src homology 3 domains
  JOURNAL   Mol Cell Biol 15 (10), 5725-5731 (1995)
   PUBMED   7565724
REFERENCE   7  (bases 1 to 1829)
  AUTHORS   Kwan SP, Hagemann TL, Radtke BE, Blaese RM and Rosen FS.
  TITLE     Identification of mutations in the Wiskott-Aldrich syndrome gene and
            characterization of a polymorphic dinucleotide repeat at DXS6940,
            adjacent to the disease gene
  JOURNAL   Proc Natl Acad Sci U S A 92 (10), 4706-4710 (1995)
   PUBMED   7753869
REFERENCE   8  (bases 1 to 1829)
  AUTHORS   Chandra,S., Bronicki,L., Nagaraj,C.B. and Zhang,K.
  TITLE     WAS-Related Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301357
REFERENCE   9  (bases 1 to 1829)
  AUTHORS   Donner M, Schwartz M, Carlsson KU and Holmberg L.
  TITLE     Hereditary X-linked thrombocytopenia maps to the same chromosomal
            region as the Wiskott-Aldrich syndrome
  JOURNAL   Blood 72 (6), 1849-1853 (1988)
   PUBMED   2904289
REFERENCE   10  (bases 1 to 1829)
  AUTHORS   Ata,M., Fisher,O.D. and Holman,C.A.
  TITLE     Inherited thrombocytopenia
  JOURNAL   Lancet 1 (7377), 119-123 (1965)
   PUBMED   4161668
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC002961.1, SRR14038195.266974.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000376701.5/ ENSP00000365891.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI910072.1, U19927.1 and
            CF529565.1.
            On Aug 31, 2019 this sequence version replaced NM_000377.2.
            Summary:  The Wiskott-Aldrich syndrome (WAS) family of proteins
            share similar domain structure, and are involved in transduction of
            signals from receptors on the cell surface to the actin
            cytoskeleton.  The presence of a number of different motifs
            suggests that they are regulated by a number of different stimuli,
            and interact with multiple proteins.  Recent studies have
            demonstrated that these proteins, directly or indirectly, associate
            with the small GTPase, Cdc42, known to regulate formation of actin
            filaments, and the cytoskeletal organizing complex, Arp2/3.
            Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive
            disease characterized by immune dysregulation and
            microthrombocytopenia, and is caused by mutations in the WAS gene.
            The WAS gene product is a cytoplasmic protein, expressed
            exclusively in hematopoietic cells, which show signalling and
            cytoskeletal abnormalities in WAS patients.  A transcript variant
            arising as a result of alternative promoter usage, and containing a
            different 5' UTR sequence, has been described, however, its
            full-length nature is not known. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1829
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..1829
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /note="WASP actin nucleation promoting factor"
                     /db_xref="GeneID:7454"
                     /db_xref="HGNC:HGNC:12731"
                     /db_xref="MIM:300392"
     CDS             56..1564
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /note="thrombocytopenia 1 (X-linked); wiskott-Aldrich
                     syndrome protein; eczema-thrombocytopenia"
                     /codon_start=1
                     /product="actin nucleation-promoting factor WAS"
                     /protein_id="NP_000368.1"
                     /db_xref="CCDS:CCDS14303.1"
                     /db_xref="GeneID:7454"
                     /db_xref="HGNC:HGNC:12731"
                     /db_xref="MIM:300392"
                     /translation="MSGGPMGGRPGGRGAPAVQQNIPSTLLQDHENQRLFEMLGRKCLT
                     LATAVVQLYLALPPGAEHWTKEHCGAVCFVKDNPQKSYFIRLYGLQAGRLLWEQELYSQ
                     LVYSTPTPFFHTFAGDDCQAGLNFADEDEAQAFRALVQEKIQKRNQRQSGDRRQLPPPP
                     TPANEERRGGLPPLPLHPGGDQGGPPVGPLSLGLATVDIQNPDITSSRYRGLPAPGPSP
                     ADKKRSGKKKISKADIGAPSGFKHVSHVGWDPQNGFDVNNLDPDLRSLFSRAGISEAQL
                     TDAETSKLIYDFIEDQGGLEAVRQEMRRQEPLPPPPPPSRGGNQLPRPPIVGGNKGRSG
                     PLPPVPLGIAPPPPTPRGPPPPGRGGPPPPPPPATGRSGPLPPPPPGAGGPPMPPPPPP
                     PPPPPSSGNGPAPPPLPPALVPAGGLAPGGGRGALLDQIRQGIQLNKTPGAPESSALQP
                     PPQSSEGLVGALMHVMQKRSRAIHSSDEGEDQAGDEDEDDEWDD"
     misc_feature    491..775
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /note="propagated from UniProtKB/Swiss-Prot (P42768.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    716..718
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42768.4); phosphorylation site"
     misc_feature    926..928
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /note="Phosphotyrosine, by FYN and HCK.
                     /evidence=ECO:0000269|PubMed:12235133,
                     ECO:0000269|PubMed:14707117, ECO:0007744|PubMed:15592455,
                     ECO:0007744|PubMed:18088087, ECO:0007744|PubMed:19690332;
                     propagated from UniProtKB/Swiss-Prot (P42768.4);
                     phosphorylation site"
     misc_feature    974..1561
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /note="propagated from UniProtKB/Swiss-Prot (P42768.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1502..1504
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:12769847,
                     ECO:0007744|PubMed:18088087, ECO:0007744|PubMed:19690332;
                     propagated from UniProtKB/Swiss-Prot (P42768.4);
                     phosphorylation site"
     misc_feature    1505..1507
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:12769847,
                     ECO:0007744|PubMed:18088087; propagated from
                     UniProtKB/Swiss-Prot (P42768.4); phosphorylation site"
     regulatory      1797..1802
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /note="hexamer: AATAAA"
     polyA_site      1829
                     /gene="WAS"
                     /gene_synonym="IMD2; SCNX; THC; THC1; WASP; WASPA"
                     /note="major polyA site"
ORIGIN
        1 ctcttcttac cctgcaccca gagcctcgcc agagaagaca agggcagaaa gcaccatgag
       61 tgggggccca atgggaggaa ggcccggggg ccgaggagca ccagcggttc agcagaacat
      121 accctccacc ctcctccagg accacgagaa ccagcgactc tttgagatgc ttggacgaaa
      181 atgcttgacg ctggccactg cagttgttca gctgtacctg gcgctgcccc ctggagctga
      241 gcactggacc aaggagcatt gtggggctgt gtgcttcgtg aaggataacc cccagaagtc
      301 ctacttcatc cgcctttacg gccttcaggc tggtcggctg ctctgggaac aggagctgta
      361 ctcacagctt gtctactcca cccccacccc cttcttccac accttcgctg gagatgactg
      421 ccaagcgggg ctgaactttg cagacgagga cgaggcccag gccttccggg ccctcgtgca
      481 ggagaagata caaaaaagga atcagaggca aagtggagac agacgccagc tacccccacc
      541 accaacacca gccaatgaag agagaagagg agggctccca cccctgcccc tgcatccagg
      601 tggagaccaa ggaggccctc cagtgggtcc gctctccctg gggctggcga cagtggacat
      661 ccagaaccct gacatcacga gttcacgata ccgtgggctc ccagcacctg gacctagccc
      721 agctgataag aaacgctcag ggaagaagaa gatcagcaaa gctgatattg gtgcacccag
      781 tggattcaag catgtcagcc acgtggggtg ggacccccag aatggatttg acgtgaacaa
      841 cctcgaccca gatctgcgga gtctgttctc cagggcagga atcagcgagg cccagctcac
      901 cgacgccgag acctctaaac ttatctacga cttcattgag gaccagggtg ggctggaggc
      961 tgtgcggcag gagatgaggc gccaggagcc acttccgccg cccccaccgc catctcgagg
     1021 agggaaccag ctcccccggc cccctattgt ggggggtaac aagggtcgtt ctggtccact
     1081 gccccctgta cctttgggga ttgccccacc cccaccaaca ccccggggac ccccaccccc
     1141 aggccgaggg ggccctccac caccaccccc tccagctact ggacgttctg gaccactgcc
     1201 ccctccaccc cctggagctg gtgggccacc catgccacca ccaccgccac caccgccacc
     1261 gccgcccagc tccgggaatg gaccagcccc tcccccactc cctcctgctc tggtgcctgc
     1321 cgggggcctg gcccctggtg ggggtcgggg agcgcttttg gatcaaatcc ggcagggaat
     1381 tcagctgaac aagacccctg gggccccaga gagctcagcg ctgcagccac cacctcagag
     1441 ctcagaggga ctggtggggg ccctgatgca cgtgatgcag aagagaagca gagccatcca
     1501 ctcctccgac gaaggggagg accaggctgg cgatgaagat gaagatgatg aatgggatga
     1561 ctgagtggct gagttacttg ctgccctgtg ctcctccccg caggacatgg ctccccctcc
     1621 acctgctctg tgcccaccct ccactctcct cttccaggcc cccaaccccc catttcttcc
     1681 ccaccaaccc ctccaatgct gttatccctg cctggtcctc acactcaccc aacaatccca
     1741 aggccctttt tatacaaaaa ttctcagttc tcttcactca aggattttta aagaaaaata
     1801 aaagaattgt ctttctgtct ctctataaa
//
LOCUS       NM_000379               5715 bp    mRNA    linear   PRI 18-JUL-2023
DEFINITION  Homo sapiens xanthine dehydrogenase (XDH), mRNA.
ACCESSION   NM_000379
VERSION     NM_000379.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5715)
  AUTHORS   Gao L, Rafaels N, Dudenkov TM, Damarla M, Damico R, Maloney JP, Moss
            M, Martin GS, Sevransky J, Shanholtz C, Herr DL, Garcia JGN,
            Hernandez-Beeftink T, Villar J, Flores C, Beaty TH, Brower R,
            Hassoun PM and Barnes KC.
  TITLE     Xanthine oxidoreductase gene polymorphisms are associated with high
            risk of sepsis and organ failure
  JOURNAL   Respir Res 24 (1), 177 (2023)
   PUBMED   37415141
  REMARK    GeneRIF: Xanthine oxidoreductase gene polymorphisms are associated
            with high risk of sepsis and organ failure. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 5715)
  AUTHORS   Yu H, Chen X, Guo X, Chen D, Jiang L, Qi Y, Shao J, Tao L, Hang J,
            Lu G, Chen Y and Li Y.
  TITLE     The clinical value of serum xanthine oxidase levels in patients with
            acute ischemic stroke
  JOURNAL   Redox Biol 60, 102623 (2023)
   PUBMED   36739755
  REMARK    GeneRIF: The clinical value of serum xanthine oxidase levels in
            patients with acute ischemic stroke.
REFERENCE   3  (bases 1 to 5715)
  AUTHORS   Liu J, Wen Z, Huang S, Zhang X, Ai X and Qian J.
  TITLE     XDH genotypes through gene-gene interactions with NUDT15 affect
            azathioprine-induced leukopenia in Chinese patients
  JOURNAL   Pharmacogenomics 23 (12), 671-682 (2022)
   PUBMED   35916133
  REMARK    GeneRIF: XDH genotypes through gene-gene interactions with NUDT15
            affect azathioprine-induced leukopenia in Chinese patients.
REFERENCE   4  (bases 1 to 5715)
  AUTHORS   Kurajoh M, Fukumoto S, Akari S, Murase T, Nakamura T, Takahashi K,
            Yoshida H, Nakatani S, Tsuda A, Morioka T, Mori K, Imanishi Y,
            Hirata K and Emoto M.
  TITLE     Possible role of insulin resistance in activation of plasma xanthine
            oxidoreductase in health check-up examinees
  JOURNAL   Sci Rep 12 (1), 10281 (2022)
   PUBMED   35717455
  REMARK    GeneRIF: Possible role of insulin resistance in activation of plasma
            xanthine oxidoreductase in health check-up examinees. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 5715)
  AUTHORS   Yamaguchi Y, Matsumura T, Ichida K, Okamoto K and Nishino T.
  TITLE     Human xanthine oxidase changes its substrate specificity to aldehyde
            oxidase type upon mutation of amino acid residues in the active
            site: roles of active site residues in binding and activation of
            purine substrate
  JOURNAL   J Biochem 141 (4), 513-524 (2007)
   PUBMED   17301077
  REMARK    GeneRIF: findings show that mutation of two amino acid residues in
            the active site of XOR for purine substrates results in conversion
            of the substrate preference to aldehyde oxidase type GeneRIF:
            Xanthine dehydrogenase/oxidase is a moonlighting protein that has
            two distinct catalytic activities as a dehydrogenase and an oxidase.
REFERENCE   6  (bases 1 to 5715)
  AUTHORS   Xu,P., Huecksteadt,T.P., Harrison,R. and Hoidal,J.R.
  TITLE     Molecular cloning, tissue expression of human xanthine dehydrogenase
  JOURNAL   Biochem Biophys Res Commun 215 (1), 429 (1995)
   PUBMED   7575623
  REMARK    Correction to:[Biochem Biophys Res Commun. 1994 Mar
            15;199(2):998-1004. PMID: 8135849]
REFERENCE   7  (bases 1 to 5715)
  AUTHORS   Rytkonen EM, Halila R, Laan M, Saksela M, Kallioniemi OP, Palotie A
            and Raivio KO.
  TITLE     The human gene for xanthine dehydrogenase (XDH) is localized on
            chromosome band 2q22
  JOURNAL   Cytogenet Cell Genet 68 (1-2), 61-63 (1995)
   PUBMED   7956361
REFERENCE   8  (bases 1 to 5715)
  AUTHORS   Minoshima S, Wang Y, Ichida K, Nishino T and Shimizu N.
  TITLE     Mapping of the gene for human xanthine dehydrogenase (oxidase) (XDH)
            to band p23 of chromosome 2
  JOURNAL   Cytogenet Cell Genet 68 (1-2), 52-53 (1995)
   PUBMED   7956358
REFERENCE   9  (bases 1 to 5715)
  AUTHORS   Xu P, Zhu XL, Huecksteadt TP, Brothman AR and Hoidal JR.
  TITLE     Assignment of human xanthine dehydrogenase gene to chromosome 2p22
  JOURNAL   Genomics 23 (1), 289-291 (1994)
   PUBMED   7829092
REFERENCE   10  (bases 1 to 5715)
  AUTHORS   Ichikawa M, Nishino T, Nishino T and Ichikawa A.
  TITLE     Subcellular localization of xanthine oxidase in rat hepatocytes:
            high-resolution immunoelectron microscopic study combined with
            biochemical analysis
  JOURNAL   J Histochem Cytochem 40 (8), 1097-1103 (1992)
   PUBMED   1619276
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.4270634.1,
            SRR14038196.3290701.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000379416.4/ ENSP00000368727.3
            multifunctional gene product(s) :: PMID: 17301077
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121654.1, D11456.2,
            AL121657.4 and CV574002.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000379.3.
            Summary: Xanthine dehydrogenase belongs to the group of
            molybdenum-containing hydroxylases involved in the oxidative
            metabolism of purines. The encoded protein has been identified as a
            moonlighting protein based on its ability to perform
            mechanistically distinct functions. Xanthine dehydrogenase can be
            converted to xanthine oxidase by reversible sulfhydryl oxidation or
            by irreversible proteolytic modification. Defects in xanthine
            dehydrogenase cause xanthinuria, may contribute to adult
            respiratory stress syndrome, and may potentiate influenza infection
            through an oxygen metabolite-dependent mechanism. [provided by
            RefSeq, Jan 2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5715
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.1"
     gene            1..5715
                     /gene="XDH"
                     /gene_synonym="XAN1; XO; XOR"
                     /note="xanthine dehydrogenase"
                     /db_xref="GeneID:7498"
                     /db_xref="HGNC:HGNC:12805"
                     /db_xref="MIM:607633"
     CDS             77..4078
                     /gene="XDH"
                     /gene_synonym="XAN1; XO; XOR"
                     /EC_number="1.17.1.4"
                     /EC_number="1.17.3.2"
                     /note="xanthine oxidoreductase"
                     /codon_start=1
                     /product="xanthine dehydrogenase/oxidase"
                     /protein_id="NP_000370.2"
                     /db_xref="CCDS:CCDS1775.1"
                     /db_xref="GeneID:7498"
                     /db_xref="HGNC:HGNC:12805"
                     /db_xref="MIM:607633"
                     /translation="MTADKLVFFVNGRKVVEKNADPETTLLAYLRRKLGLSGTKLGCGE
                     GGCGACTVMLSKYDRLQNKIVHFSANACLAPICSLHHVAVTTVEGIGSTKTRLHPVQER
                     IAKSHGSQCGFCTPGIVMSMYTLLRNQPEPTMEEIENAFQGNLCRCTGYRPILQGFRTF
                     ARDGGCCGGDGNNPNCCMNQKKDHSVSLSPSLFKPEEFTPLDPTQEPIFPPELLRLKDT
                     PRKQLRFEGERVTWIQASTLKELLDLKAQHPDAKLVVGNTEIGIEMKFKNMLFPMIVCP
                     AWIPELNSVEHGPDGISFGAACPLSIVEKTLVDAVAKLPAQKTEVFRGVLEQLRWFAGK
                     QVKSVASVGGNIITASPISDLNPVFMASGAKLTLVSRGTRRTVQMDHTFFPGYRKTLLS
                     PEEILLSIEIPYSREGEYFSAFKQASRREDDIAKVTSGMRVLFKPGTTEVQELALCYGG
                     MANRTISALKTTQRQLSKLWKEELLQDVCAGLAEELHLPPDAPGGMVDFRCTLTLSFFF
                     KFYLTVLQKLGQENLEDKCGKLDPTFASATLLFQKDPPADVQLFQEVPKGQSEEDMVGR
                     PLPHLAADMQASGEAVYCDDIPRYENELSLRLVTSTRAHAKIKSIDTSEAKKVPGFVCF
                     ISADDVPGSNITGICNDETVFAKDKVTCVGHIIGAVVADTPEHTQRAAQGVKITYEELP
                     AIITIEDAIKNNSFYGPELKIEKGDLKKGFSEADNVVSGEIYIGGQEHFYLETHCTIAV
                     PKGEAGEMELFVSTQNTMKTQSFVAKMLGVPANRIVVRVKRMGGGFGGKETRSTVVSTA
                     VALAAYKTGRPVRCMLDRDEDMLITGGRHPFLARYKVGFMKTGTVVALEVDHFSNVGNT
                     QDLSQSIMERALFHMDNCYKIPNIRGTGRLCKTNLPSNTAFRGFGGPQGMLIAECWMSE
                     VAVTCGMPAEEVRRKNLYKEGDLTHFNQKLEGFTLPRCWEECLASSQYHARKSEVDKFN
                     KENCWKKRGLCIIPTKFGISFTVPFLNQAGALLHVYTDGSVLLTHGGTEMGQGLHTKMV
                     QVASRALKIPTSKIYISETSTNTVPNTSPTAASVSADLNGQAVYAACQTILKRLEPYKK
                     KNPSGSWEDWVTAAYMDTVSLSATGFYRTPNLGYSFETNSGNPFHYFSYGVACSEVEID
                     CLTGDHKNLRTDIVMDVGSSLNPAIDIGQVEGAFVQGLGLFTLEELHYSPEGSLHTRGP
                     STYKIPAFGSIPIEFRVSLLRDCPNKKAIYASKAVGEPPLFLAASIFFAIKDAIRAARA
                     QHTGNNVKELFRLDSPATPEKIRNACVDKFTTLCVTGVPENCKPWSVRV"
     regulatory      5694..5699
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XDH"
                     /gene_synonym="XAN1; XO; XOR"
                     /note="hexamer: AATAAA"
     polyA_site      5715
                     /gene="XDH"
                     /gene_synonym="XAN1; XO; XOR"
                     /note="major polyA site"
ORIGIN
        1 acagagcagt gataactacc tgccagtgtc tcttaggagt gaggtacctg gagttcgggg
       61 accccaacct gtgacaatga cagcagacaa attggttttc tttgtgaatg gcagaaaggt
      121 ggtggagaaa aatgcagatc cagagacaac ccttttggcc tacctgagaa gaaagttggg
      181 gctgagtgga accaagctcg gctgtggaga ggggggctgc ggggcttgca cagtgatgct
      241 ctccaagtat gatcgtctgc agaacaagat cgtccacttt tctgccaatg cctgcctggc
      301 ccccatctgc tccttgcacc atgttgcagt gacaactgtg gaaggaatag gaagcaccaa
      361 gacgaggctg catcctgtgc aggagagaat tgccaaaagc cacggctccc agtgcgggtt
      421 ctgcacccct ggcatcgtca tgagtatgta cacactgctc cggaatcagc ccgagcccac
      481 catggaggag attgagaatg ccttccaagg aaatctgtgc cgctgcacag gctacagacc
      541 catcctccag ggcttccgga cctttgccag ggatggtgga tgctgtggag gagatgggaa
      601 taatccaaat tgctgcatga accagaagaa agaccactca gtcagcctct cgccatcttt
      661 attcaaacca gaggagttca cgcccctgga tccaacccag gagcccattt ttcccccaga
      721 gttgctgagg ctgaaagaca ctcctcggaa gcagctgcga tttgaagggg agcgtgtgac
      781 gtggatacag gcctcaaccc tcaaggagct gctggacctc aaggctcagc accctgacgc
      841 caagctggtc gtggggaaca cggagattgg cattgagatg aagttcaaga atatgctgtt
      901 tcctatgatt gtctgcccag cctggatccc tgagctgaat tcggtagaac atggacccga
      961 cggtatctcc tttggagctg cttgccccct gagcattgtg gaaaaaaccc tggtggatgc
     1021 tgttgctaag cttcctgccc aaaagacaga ggtgttcaga ggggtcctgg agcagctgcg
     1081 ctggtttgct gggaagcaag tcaagtctgt ggcgtccgtt ggagggaaca tcatcactgc
     1141 cagccccatc tccgacctca accccgtgtt catggccagt ggggccaagc tgacacttgt
     1201 gtccagaggc accaggagaa ctgtccagat ggaccacacc ttcttccctg gctacagaaa
     1261 gaccctgctg agcccggagg agatactgct ctccatagag atcccctaca gcagggaggg
     1321 ggagtatttc tcagcattca agcaggcctc ccggagagaa gatgacattg ccaaggtaac
     1381 cagtggcatg agagttttat tcaagccagg aaccacagag gtacaggagc tggccctttg
     1441 ctatggtgga atggccaaca gaaccatctc agccctcaag accactcaga ggcagctttc
     1501 caagctctgg aaggaggagc tgctgcagga cgtgtgtgca ggactggcag aggagctgca
     1561 tctgcctccc gatgcccctg gtggcatggt ggacttccgg tgcaccctca ccctcagctt
     1621 cttcttcaag ttctacctga cagtccttca gaagctgggc caagagaacc tggaagacaa
     1681 gtgtggtaaa ctggacccca ctttcgccag tgcaacttta ctgtttcaga aagacccccc
     1741 agccgatgtc cagctcttcc aagaggtgcc caagggtcag tctgaggagg acatggtggg
     1801 ccggcccctg ccccacctgg cagcggacat gcaggcctct ggtgaggccg tgtactgtga
     1861 cgacattcct cgctacgaga atgagctgtc tctccggctg gtcaccagca cccgggccca
     1921 cgccaagatc aagtccatag atacatcaga agctaagaag gttccagggt ttgtttgttt
     1981 catttccgct gatgatgttc ctgggagtaa cataactgga atttgtaatg atgagacagt
     2041 ctttgcgaag gataaggtta cttgtgttgg gcatatcatt ggtgctgtgg ttgctgacac
     2101 cccggaacac acacagagag ctgcccaagg ggtgaaaatc acctatgaag aactaccagc
     2161 cattatcaca attgaggatg ctataaagaa caactccttt tatggacctg agctgaagat
     2221 cgagaaaggg gacctaaaga aggggttttc cgaagcagat aatgttgtgt caggggagat
     2281 atacatcggt ggccaagagc acttctacct ggagactcac tgcaccattg ctgttccaaa
     2341 aggcgaggca ggggagatgg agctctttgt gtctacacag aacaccatga agacccagag
     2401 ctttgttgca aaaatgttgg gggttccagc aaaccggatt gtggttcgag tgaagagaat
     2461 gggaggaggc tttggaggca aggagacccg gagcactgtg gtgtccacgg cagtggccct
     2521 ggctgcatat aagaccggcc gccctgtgcg atgcatgctg gaccgtgatg aggacatgct
     2581 gataactggt ggcagacatc ccttcctggc cagatacaag gttggcttca tgaagactgg
     2641 gacagttgtg gctcttgagg tggaccactt cagcaatgtg gggaacaccc aggatctctc
     2701 tcagagtatt atggaacgag ctttattcca catggacaac tgctataaaa tccccaacat
     2761 ccggggcact gggcggctgt gcaaaaccaa ccttccctcc aacacggcct tccggggctt
     2821 tggggggccc caggggatgc tcattgccga gtgctggatg agtgaagttg cagtgacctg
     2881 tgggatgcct gcagaggagg tgcggagaaa aaacctgtac aaagaagggg acctgacaca
     2941 cttcaaccag aagcttgagg gtttcacctt gcccagatgc tgggaagaat gcctagcaag
     3001 ctctcagtat catgctcgga agagtgaggt tgacaagttc aacaaggaga attgttggaa
     3061 aaagagagga ttgtgcataa ttcccaccaa gtttggaata agctttacag ttccttttct
     3121 gaatcaggca ggagccctac ttcatgtgta cacagatggc tctgtgctgc tgacccacgg
     3181 ggggactgag atgggccaag gccttcatac caaaatggtc caggtggcca gtagagctct
     3241 gaaaatcccc acctctaaga tttatatcag cgagacaagc actaacactg tgcccaacac
     3301 ctctcccacg gctgcctctg tcagcgctga cctcaatgga caggccgtct atgcggcttg
     3361 tcagaccatc ttgaaaaggc tggaacccta caagaagaag aatcccagtg gctcctggga
     3421 agactgggtc acagctgcct acatggacac agtgagcttg tctgccactg ggttttatag
     3481 aacacccaat ctgggctaca gctttgagac taactcaggg aaccccttcc actacttcag
     3541 ctatggggtg gcttgctctg aagtagaaat cgactgccta acaggagatc ataagaacct
     3601 ccgcacagat attgtcatgg atgttggctc cagtctaaac cctgccattg atattggaca
     3661 ggtggaaggg gcatttgtcc agggccttgg cctcttcacc ctagaggagc tacactattc
     3721 ccccgagggg agcctgcaca cccgtggccc tagcacctac aagatcccgg catttggcag
     3781 catccccatt gagttcaggg tgtccctgct ccgcgactgc cccaacaaga aggccatcta
     3841 tgcatcgaag gctgttggag agccgcccct cttcctggct gcttctatct tctttgccat
     3901 caaagatgcc atccgtgcag ctcgagctca gcacacaggt aataacgtga aggaactctt
     3961 ccggctagac agccctgcca ccccggagaa gatccgcaat gcctgcgtgg acaagttcac
     4021 caccctgtgt gtcactggtg tcccagaaaa ctgcaaaccc tggtctgtga gggtctaaag
     4081 agagagtcct cagcagagtc ttcttgtgct gcctttgggc ttccatggag caggaggaac
     4141 ataccacaga acatggatct attaaagtca cagaatgaca gacctgtgat ttgtcaagat
     4201 gggatttgga agacaagtga atgcaatgga agattttgat caaaaatgta atttgtaaac
     4261 acaatgataa gcaaattcaa aactgttatg cctaaatggt gaatatgcaa ttaggatcat
     4321 tttctgtctg ttttaatcat gtatctggaa tagggtcggg aagggtttgt gctattcccc
     4381 acttactgga cagcctgtat aacctcaagt tctgatggtg tctgtccttt gaagaggatt
     4441 cccacaaacc tctagaagct taaaccgaag ttactttaaa tcgtgtgcct tcctgtgaaa
     4501 gcctggcctt caaaccaatg aacagcaaag cataaccttg aatctatact caaattttgc
     4561 aatgaggcag tggggtaagg ttaaatcctc taaccatctt tgaatcattg gaaagaataa
     4621 agaatgaaac aaattcaagg ttaattggat ctgattttgt gaagctgcat aaagcaagat
     4681 tactctataa tacaaaaatc caaccaactc aattattgag cacgtacaat gttctagatt
     4741 tctttccctt cctctttgaa gagaatattt gtattccaaa tactctttga gtatttacaa
     4801 aaaagattat gtttaatctt tacatttgaa gccaaagtaa tttccaccta gaaatgatgc
     4861 tatcagtcct ggcatggtgg ctcaccccta taatcccagc actttgggag gctaaggcag
     4921 gagaattgct tgagcccagc agtttgagac cagcctgggc aacatagaga gctcctgtct
     4981 ttaaaaaaaa tttttttaat tagttggtct tgatagtgca tgcctgtagt cccaactact
     5041 tgaaaggctg aggtggagag atcatttgag ctcaggaggt tgaggctgca gtgagctatg
     5101 attgcgccac tgcactcctg cctgagcgac tgagcaagat cttgtctctg aagaaaaaaa
     5161 aagaaataaa aatgctgcta tcaaaatcaa gcccaaccag aggtagaaga gccaagaagc
     5221 ctgggttctc atcctagctc tgtctcttct gtctctatct ttgtgatctt ggactgtcaa
     5281 ttccccttcc tgtgatccat tttactgcaa acataagggt tgcagtaaag ggttgtctca
     5341 cgtcttctgc tttaaaagcc tataaatata tgacctgaaa actccagtta cataaaggat
     5401 ctgcagctat ctaaggcttg gttttcttac tgtcatatga tacctgggtc taatgaactc
     5461 tgctgagatc acctcaagtt tctgcggttg gtaaagagaa caagggaaga acaaacatcc
     5521 cttttattgc tccaaatggt gatttaatcc ctacatggtg ctgggtggac aatgtgtcac
     5581 tgtcacatgc cttcactgta taaatccaac cttctgccag agagaatctg tggttctggc
     5641 catggaggga ggatagtgga aatgatatag ttggactggt gcttgatgtc actaataaat
     5701 gaaactgtca gctgg
//
LOCUS       NM_000380               1400 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens XPA, DNA damage recognition and repair factor (XPA),
            transcript variant 1, mRNA.
ACCESSION   NM_000380
VERSION     NM_000380.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1400)
  AUTHORS   Almushawwah S, Almutairi MH, Alamri AM and Semlali A.
  TITLE     A Significant Increasing Risk Association between Cigarette Smoking
            and XPA and XPC Genes Polymorphisms
  JOURNAL   Genes (Basel) 14 (7), 1349 (2023)
   PUBMED   37510255
  REMARK    GeneRIF: A Significant Increasing Risk Association between Cigarette
            Smoking and XPA and XPC Genes Polymorphisms. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 1400)
  AUTHORS   Kim J, Li CL, Chen X, Cui Y, Golebiowski FM, Wang H, Hanaoka F,
            Sugasawa K and Yang W.
  TITLE     Lesion recognition by XPC, TFIIH and XPA in DNA excision repair
  JOURNAL   Nature 617 (7959), 170-175 (2023)
   PUBMED   37076618
  REMARK    GeneRIF: Lesion recognition by XPC, TFIIH and XPA in DNA excision
            repair.
REFERENCE   3  (bases 1 to 1400)
  AUTHORS   van den Heuvel D, Kim M, Wondergem AP, van der Meer PJ, Witkamp M,
            Lambregtse F, Kim HS, Kan F, Apelt K, Kragten A, Gonzalez-Prieto R,
            Vertegaal ACO, Yeo JE, Kim BG, van Doorn R, Scharer OD and
            Luijsterburg MS.
  TITLE     A disease-associated XPA allele interferes with TFIIH binding and
            primarily affects transcription-coupled nucleotide excision repair
  JOURNAL   Proc Natl Acad Sci U S A 120 (11), e2208860120 (2023)
   PUBMED   36893274
  REMARK    GeneRIF: A disease-associated XPA allele interferes with TFIIH
            binding and primarily affects transcription-coupled nucleotide
            excision repair.
REFERENCE   4  (bases 1 to 1400)
  AUTHORS   Banicka V, Martens MC, Panzer R, Schrama D, Emmert S, Boeckmann L
            and Thiem A.
  TITLE     Homozygous CRISPR/Cas9 Knockout Generated a Novel Functionally
            Active Exon 1 Skipping XPA Variant in Melanoma Cells
  JOURNAL   Int J Mol Sci 23 (19), 11649 (2022)
   PUBMED   36232946
  REMARK    GeneRIF: Homozygous CRISPR/Cas9 Knockout Generated a Novel
            Functionally Active Exon 1 Skipping XPA Variant in Melanoma Cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1400)
  AUTHORS   Sugitani N, Sivley RM, Perry KE, Capra JA and Chazin WJ.
  TITLE     XPA: A key scaffold for human nucleotide excision repair
  JOURNAL   DNA Repair (Amst) 44, 123-135 (2016)
   PUBMED   27247238
  REMARK    GeneRIF: XPA is a key scaffold protein for human nucleotide excision
            repair. (Review) Review article
REFERENCE   6  (bases 1 to 1400)
  AUTHORS   Kraemer,K.H., DiGiovanna,J.J. and Tamura,D.
  TITLE     Xeroderma Pigmentosum
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301571
REFERENCE   7  (bases 1 to 1400)
  AUTHORS   Miyamoto I, Miura N, Niwa H, Miyazaki J and Tanaka K.
  TITLE     Mutational analysis of the structure and function of the xeroderma
            pigmentosum group A complementing protein. Identification of
            essential domains for nuclear localization and DNA excision repair
  JOURNAL   J Biol Chem 267 (17), 12182-12187 (1992)
   PUBMED   1601884
REFERENCE   8  (bases 1 to 1400)
  AUTHORS   Satokata I, Tanaka K, Yuba S and Okada Y.
  TITLE     Identification of splicing mutations of the last nucleotides of
            exons, a nonsense mutation, and a missense mutation of the XPAC gene
            as causes of group A xeroderma pigmentosum
  JOURNAL   Mutat Res 273 (2), 203-212 (1992)
   PUBMED   1372103
REFERENCE   9  (bases 1 to 1400)
  AUTHORS   Satokata I, Tanaka K and Okada Y.
  TITLE     Molecular basis of group A xeroderma pigmentosum: a missense
            mutation and two deletions located in a zinc finger consensus
            sequence of the XPAC gene
  JOURNAL   Hum Genet 88 (6), 603-607 (1992)
   PUBMED   1339397
REFERENCE   10  (bases 1 to 1400)
  AUTHORS   Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S and
            Okada Y.
  TITLE     Characterization of a splicing mutation in group A xeroderma
            pigmentosum
  JOURNAL   Proc Natl Acad Sci U S A 87 (24), 9908-9912 (1990)
   PUBMED   1702221
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC014965.1, D14533.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375128.5/ ENSP00000364270.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB155090.1 and BC014965.1.
            On Nov 30, 2019 this sequence version replaced NM_000380.3.
            Summary: This gene encodes a zinc finger protein plays a central
            role in nucleotide excision repair (NER), a specialized type of DNA
            repair. NER is responsible for repair of UV radiation-induced
            photoproducts and DNA adducts induced by chemical carcinogens and
            chemotherapeutic drugs. The encoded protein interacts with DNA and
            several NER proteins, acting as a scaffold to assemble the NER
            incision complex at sites of DNA damage. Mutations in this gene
            cause Xeroderma pigmentosum complementation group A (XP-A), an
            autosomal recessive skin disorder featuring hypersensitivity to
            sunlight and increased risk for skin cancer. [provided by RefSeq,
            Aug 2017].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1400
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.33"
     gene            1..1400
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /note="XPA, DNA damage recognition and repair factor"
                     /db_xref="GeneID:7507"
                     /db_xref="HGNC:HGNC:12814"
                     /db_xref="MIM:611153"
     CDS             49..870
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /note="isoform 1 is encoded by transcript variant 1; DNA
                     repair protein complementing XP-A cells; xeroderma
                     pigmentosum group A-complementing protein; xeroderma
                     pigmentosum, complementation group A"
                     /codon_start=1
                     /product="DNA repair protein complementing XP-A cells
                     isoform 1"
                     /protein_id="NP_000371.1"
                     /db_xref="CCDS:CCDS6729.1"
                     /db_xref="GeneID:7507"
                     /db_xref="HGNC:HGNC:12814"
                     /db_xref="MIM:611153"
                     /translation="MAAADGALPEAAALEQPAELPASVRASIERKRQRALMLRQARLAA
                     RPYSATAAAATGGMANVKAAPKIIDTGGGFILEEEEEEEQKIGKVVHQPGPVMEFDYVI
                     CEECGKEFMDSYLMNHFDLPTCDNCRDADDKHKLITKTEAKQEYLLKDCDLEKREPPLK
                     FIVKKNPHHSQWGDMKLYLKLQIVKRSLEVWGSQEALEEAKEVRQENREKMKQKKFDKK
                     VKELRRAVRSSVWKRETIVHQHEYGPEENLEDDMYRKTCTMCGHELTYEKM"
     misc_feature    52..54
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P23025.1); acetylation site"
     misc_feature    58..339
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /note="propagated from UniProtKB/Swiss-Prot (P23025.1);
                     Region: Interaction with CEP164 and required for UV
                     resistance. /evidence=ECO:0000269|PubMed:19197159"
     misc_feature    124..189
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /note="propagated from UniProtKB/Swiss-Prot (P23025.1);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     misc_feature    634..636
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16540648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23025.1); phosphorylation site"
     regulatory      1374..1379
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /note="hexamer: AATAAA"
     polyA_site      1400
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /note="major polyA site"
ORIGIN
        1 agtgcgcgtg cgtggagctg ggagctaggt cctcggagtg ggccagagat ggcggcggcc
       61 gacggggctt tgccggaggc ggcggcttta gagcaacccg cggagctgcc tgcctcggtg
      121 cgggcgagta tcgagcggaa gcggcagcgg gcactgatgc tgcgccaggc ccggctggct
      181 gcccggccct actcggcgac ggcggctgcg gctactggag gcatggctaa tgtaaaagca
      241 gccccaaaga taattgacac aggaggaggc ttcattttag aagaggaaga agaagaagaa
      301 cagaaaattg gaaaagttgt tcatcaacca ggacctgtta tggaatttga ttatgtaata
      361 tgcgaagaat gtgggaaaga atttatggat tcttatctta tgaaccactt tgatttgcca
      421 acttgtgata actgcagaga tgctgatgat aaacacaagc ttataaccaa aacagaggca
      481 aaacaagaat atcttctgaa agactgtgat ttagaaaaaa gagagccacc tcttaaattt
      541 attgtgaaga agaatccaca tcattcacaa tggggtgata tgaaactcta cttaaagtta
      601 cagattgtga agaggtctct tgaagtttgg ggtagtcaag aagcattaga agaagcaaag
      661 gaagtccgac aggaaaaccg agaaaaaatg aaacagaaga aatttgataa aaaagtaaaa
      721 gaattgcggc gagcagtaag aagcagcgtg tggaaaaggg agacgattgt tcatcaacat
      781 gagtatggac cagaagaaaa cctagaagat gacatgtacc gtaagacttg tactatgtgt
      841 ggccatgaac tgacatatga aaaaatgtga ttttttagtt cagtgacctg ttttatagaa
      901 ttttatattt aaataaagga aatttagatt ggtccttttc aaaattcaaa aaaaaaagca
      961 acatcttcat agatgaatga aacccttgta taagtaatac ttcagtaata attatgtatg
     1021 ttatggctta aaagcaagtt tcagtgaagg tcacctggcc tggttgtgtg cacaatgtca
     1081 tgtctgtgat tgccttctta caacagagat gggagctgag tgctagagta ggtgcagaag
     1141 tggtaggtca gctacaaatt tgaggacaag ataccaaggc aaaccctaga ttggggtaga
     1201 gggaaaaggg ttcaacaaag gctgaactgg attcttaacc aagaaacaaa taatagcaat
     1261 ggtggtgcac cactgtaccc caggttctag tcatgtgttt tttaggacga tttctgtctc
     1321 cacgatggtg gaaacagtgg ggaactactg ctggaaaaag ccctaatagc agaaataaac
     1381 attgagttgt acgagtctga
//
LOCUS       NM_000381               6168 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens midline 1 (MID1), transcript variant 1, mRNA.
ACCESSION   NM_000381
VERSION     NM_000381.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6168)
  AUTHORS   Perea-Cabrera M, Granados-Riveron JT, Segura-Stanford B,
            Moreno-Vargas LM, Prada-Gracia D, Moran-Espinosa MC, Erdmenger J,
            Diaz-Garcia H and Sanchez-Urbina R.
  TITLE     Opitz GBBB syndrome with total anomalous pulmonary venous
            connection: A new MID1 gene variant
  JOURNAL   Mol Genet Genomic Med 11 (9), e2234 (2023)
   PUBMED   37498300
  REMARK    GeneRIF: Opitz GBBB syndrome with total anomalous pulmonary venous
            connection: A new MID1 gene variant.
REFERENCE   2  (bases 1 to 6168)
  AUTHORS   Kaur A, Gladu EM, Wright KM, Webb JA and Massiah MA.
  TITLE     B-box1 Domain of MID1 Interacts with the Ube2D1 E2 Enzyme
            Differently Than RING E3 Ligases
  JOURNAL   Biochemistry 62 (5), 1012-1025 (2023)
   PUBMED   36820504
  REMARK    GeneRIF: B-box1 Domain of MID1 Interacts with the Ube2D1 E2 Enzyme
            Differently Than RING E3 Ligases.
REFERENCE   3  (bases 1 to 6168)
  AUTHORS   Chen X, Wang L, Yu H, Shen Q, Hou Y, Xia YX, Li L, Chang L and Li
            WH.
  TITLE     Irradiated lung cancer cell-derived exosomes modulate macrophage
            polarization by inhibiting MID1 via miR-4655-5p
  JOURNAL   Mol Immunol 155, 58-68 (2023)
   PUBMED   36709645
  REMARK    GeneRIF: Irradiated lung cancer cell-derived exosomes modulate
            macrophage polarization by inhibiting MID1 via miR-4655-5p.
REFERENCE   4  (bases 1 to 6168)
  AUTHORS   Rezig IM, Yaduma WG, Gould GW and McInerny CJ.
  TITLE     The role of anillin/Mid1p during medial division and cytokinesis:
            from fission yeast to cancer cells
  JOURNAL   Cell Cycle 22 (6), 633-644 (2023)
   PUBMED   36426865
  REMARK    GeneRIF: The role of anillin/Mid1p during medial division and
            cytokinesis: from fission yeast to cancer cells. Review article
REFERENCE   5  (bases 1 to 6168)
  AUTHORS   Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL,
            Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A and Muenke M.
  TITLE     Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in
            the carboxy-terminal domain
  JOURNAL   Am J Hum Genet 63 (3), 703-710 (1998)
   PUBMED   9718340
  REMARK    Erratum:[Am J Hum Genet 1998 Nov;63(5):1571]
REFERENCE   6  (bases 1 to 6168)
  AUTHORS   Perry J, Feather S, Smith A, Palmer S and Ashworth A.
  TITLE     The human FXY gene is located within Xp22.3: implications for
            evolution of the mammalian X chromosome
  JOURNAL   Hum Mol Genet 7 (2), 299-305 (1998)
   PUBMED   9425238
REFERENCE   7  (bases 1 to 6168)
  AUTHORS   Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W,
            Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam
            RC, Opitz JM, Muenke M, Ropers HH and Ballabio A.
  TITLE     Opitz G/BBB syndrome, a defect of midline development, is due to
            mutations in a new RING finger gene on Xp22
  JOURNAL   Nat Genet 17 (3), 285-291 (1997)
   PUBMED   9354791
REFERENCE   8  (bases 1 to 6168)
  AUTHORS   Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard
            CO, Burton BK, Josephson KD, Laxova R, Aleck KA, Allanson JE,
            Guion-Almeida ML, Martin RA, Leichtman LG, Price RA, Opitz JM and
            Muenke M.
  TITLE     Opitz syndrome is genetically heterogeneous, with one locus on Xp22,
            and a second locus on 22q11.2
  JOURNAL   Nat Genet 11 (4), 459-461 (1995)
   PUBMED   7493033
REFERENCE   9  (bases 1 to 6168)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview - RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301753
REFERENCE   10  (bases 1 to 6168)
  AUTHORS   Meroni,G.
  TITLE     X-Linked Opitz G/BBB Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301502
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.16033.1,
            SRR1660807.78880.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000317552.9/ ENSP00000312678.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC309977.1, BC053626.1 and
            EF217426.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 1, 2019 this sequence version replaced NM_000381.3.
            Summary: The protein encoded by this gene is a member of the
            tripartite motif (TRIM) family, also known as the 'RING-B
            box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM
            motif includes three zinc-binding domains, a RING, a B-box type 1
            and a B-box type 2, and a coiled-coil region. This protein forms
            homodimers which associate with microtubules in the cytoplasm. The
            protein is likely involved in the formation of multiprotein
            structures acting as anchor points to microtubules. Mutations in
            this gene have been associated with the X-linked form of Opitz
            syndrome, which is characterized by midline abnormalities such as
            cleft lip, laryngeal cleft, heart defects, hypospadias, and
            agenesis of the corpus callosum. This gene was also the first
            example of a gene subject to X inactivation in human while escaping
            it in mouse. Alternative promoter use, alternative splicing and
            alternative polyadenylation result in multiple transcript variants
            that have different tissue specificities. [provided by RefSeq, Dec
            2016].
            Transcript Variant: This variant (1, also known as alpha) is the
            longest transcript. Variants 1-4 and variant 10 encode the same
            isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6168
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..6168
                     /gene="MID1"
                     /gene_synonym="BBBG1; FXY; GBBB; GBBB1; MIDIN; OGS1; OS;
                     OSX; RNF59; TRIM18; XPRF; ZNFXY"
                     /note="midline 1"
                     /db_xref="GeneID:4281"
                     /db_xref="HGNC:HGNC:7095"
                     /db_xref="MIM:300552"
     misc_feature    302..304
                     /gene="MID1"
                     /gene_synonym="BBBG1; FXY; GBBB; GBBB1; MIDIN; OGS1; OS;
                     OSX; RNF59; TRIM18; XPRF; ZNFXY"
                     /note="upstream in-frame stop codon"
     CDS             353..2356
                     /gene="MID1"
                     /gene_synonym="BBBG1; FXY; GBBB; GBBB1; MIDIN; OGS1; OS;
                     OSX; RNF59; TRIM18; XPRF; ZNFXY"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 1;
                     putative transcription factor XPRF; tripartite motif
                     protein TRIM18; zinc finger on X and Y, mouse, homolog of;
                     tripartite motif-containing protein 18; RING finger protein
                     59; midline 1 RING finger protein; RING finger protein
                     Midline-1; E3 ubiquitin-protein ligase Midline-1; Opitz/BBB
                     syndrome; RING-type E3 ubiquitin transferase Midline-1"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase Midline-1 isoform 1"
                     /protein_id="NP_000372.1"
                     /db_xref="CCDS:CCDS14138.1"
                     /db_xref="GeneID:4281"
                     /db_xref="HGNC:HGNC:7095"
                     /db_xref="MIM:300552"
                     /translation="METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATN
                     ESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRRER
                     AFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIE
                     PIPDSHIRGLMCLEHEDEKVNMYCVTDDQLICALCKLVGRHRDHQVAALSERYDKLKQN
                     LESNLTNLIKRNTELETLLAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIG
                     TKIKEGKVMRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVS
                     MATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTI
                     TVHWTSDDEFSVVSYELQYTIFTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTK
                     YIFMVKAINQAGSRSSEPGKLKTNSQPFKLDPKSAHRKLKVSHDNLTVERDESSSKKSH
                     TPERFTSQGSYGVAGNVFIDSGRHYWEVVISGSTWYAIGLAYKSAPKHEWIGKNSASWA
                     LCRCNNNWVVRHNSKEIPIEPAPHLRRVGILLDYDNGSIAFYDALNSIHLYTFDVAFAQ
                     PVCPTFTVWNKCLTIITGLPIPDHLDCTEQLP"
     misc_feature    626..628
                     /gene="MID1"
                     /gene_synonym="BBBG1; FXY; GBBB; GBBB1; MIDIN; OGS1; OS;
                     OSX; RNF59; TRIM18; XPRF; ZNFXY"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O15344.1); phosphorylation site"
     misc_feature    638..640
                     /gene="MID1"
                     /gene_synonym="BBBG1; FXY; GBBB; GBBB1; MIDIN; OGS1; OS;
                     OSX; RNF59; TRIM18; XPRF; ZNFXY"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O15344.1); phosphorylation site"
     misc_feature    1763..1924
                     /gene="MID1"
                     /gene_synonym="BBBG1; FXY; GBBB; GBBB1; MIDIN; OGS1; OS;
                     OSX; RNF59; TRIM18; XPRF; ZNFXY"
                     /note="propagated from UniProtKB/Swiss-Prot (O15344.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1883..1885
                     /gene="MID1"
                     /gene_synonym="BBBG1; FXY; GBBB; GBBB1; MIDIN; OGS1; OS;
                     OSX; RNF59; TRIM18; XPRF; ZNFXY"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O15344.1); phosphorylation site"
     regulatory      6142..6147
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MID1"
                     /gene_synonym="BBBG1; FXY; GBBB; GBBB1; MIDIN; OGS1; OS;
                     OSX; RNF59; TRIM18; XPRF; ZNFXY"
                     /note="hexamer: AATAAA"
     polyA_site      6168
                     /gene="MID1"
                     /gene_synonym="BBBG1; FXY; GBBB; GBBB1; MIDIN; OGS1; OS;
                     OSX; RNF59; TRIM18; XPRF; ZNFXY"
                     /note="major polyA site"
ORIGIN
        1 gagaactgat ttgaaataag agccaggcgg tcctcgcttc cctgcgaccg acttttcata
       61 ggctggggga gaaaaggttg agaaacttga cattgtctcg agcagagtgc gtgtagcaac
      121 agatcaaaga aaaagaggac gaaaacgtgc tctttgctgc ccgtagattt cgccgggttg
      181 cttttgtctt gcgggctcct gtcgggttcg gtgtttccgc tctgaagact gcgacgcggg
      241 ctccgatgca gctcgctccc tgccggatgg gtcatgggat tctaaacatg aggcagatag
      301 ctgatcagct tccttgggtt ttgctgatga cacaagagag ctttgcctga agatggaaac
      361 actggagtca gaactgacct gccctatttg tctggagctc tttgaggacc ctcttctact
      421 gccctgcgca cacagcctct gcttcaactg cgcccaccgc atcctagtat cacactgtgc
      481 caccaacgag tctgtggagt ccatcaccgc cttccagtgc cccacctgcc ggcatgtcat
      541 caccctcagc cagcgaggtc tagacgggct caagcgcaac gtcaccctac agaacatcat
      601 cgacaggttc cagaaagcat cagtgagcgg gcccaactct cccagcgaga cccgtcggga
      661 gcgggccttt gacgccaaca ccatgacctc cgccgagaag gtcctctgcc agttttgtga
      721 ccaggatcct gcccaggacg ctgtgaagac ctgtgtcact tgtgaagtat cctactgtga
      781 cgagtgcctg aaagccactc acccgaataa gaagcccttt acaggccatc gtctgattga
      841 gccaattccg gactctcaca tccgggggct gatgtgcttg gagcatgagg atgagaaggt
      901 gaatatgtac tgtgtgaccg atgaccagtt aatctgtgcc ttgtgtaaac tggttgggcg
      961 gcaccgcgat catcaggtgg cagctttgag tgagcgctat gacaaattga agcaaaactt
     1021 agagagtaac ctcaccaacc ttattaagag gaacacagaa ctggagaccc ttttggctaa
     1081 actcatccaa acctgtcaac atgttgaagt caatgcatca cgtcaagaag ccaaattgac
     1141 agaggagtgt gatcttctca ttgagatcat tcagcaaaga cgacagatta ttggaaccaa
     1201 gatcaaagaa gggaaggtga tgaggcttcg caaactggct cagcagattg caaactgcaa
     1261 acagtgcatt gagcggtcag catcactcat ctcccaagcg gaacactctc tgaaggagaa
     1321 tgatcatgcg cgtttcctac agactgctaa gaatatcacc gagagagtct ccatggcaac
     1381 tgcatcctcc caggttctaa ttcctgaaat caacctcaat gacacatttg acacctttgc
     1441 cttagatttt tcccgagaga agaaactgct agaatgtctg gattacctta cagctcccaa
     1501 ccctcccaca attagagaag agctctgcac agcttcatat gacaccatca ctgtgcattg
     1561 gacctccgat gatgagttca gcgtggtctc ctacgagctc cagtacacca tattcaccgg
     1621 acaagccaac gtcgttagtc tgtgtaattc ggctgatagc tggatgatag tacccaacat
     1681 caagcagaac cactacacgg tgcacggtct gcagagcggc accaagtaca tcttcatggt
     1741 caaggccatc aaccaggcgg gcagccgcag cagtgagcct gggaagttga agacaaacag
     1801 ccaaccattt aaactggatc ccaaatctgc tcatcgaaaa ctgaaggtgt cccatgataa
     1861 cttgacagta gaacgtgatg agtcatcatc caagaagagt cacacacctg aacgcttcac
     1921 cagccagggg agctatggag tagctggaaa tgtgtttatt gatagtggcc ggcattattg
     1981 ggaagtggtc ataagtggaa gcacatggta tgccattggt cttgcttaca aatcagcccc
     2041 gaagcatgaa tggattggga agaactctgc ttcctgggcg ctctgccgct gcaacaataa
     2101 ctgggtggtg agacacaata gcaaggaaat ccccattgag cctgcccccc acctccggcg
     2161 cgtgggcatc ctgctggact atgataacgg ctctatcgcc ttttatgatg ctttgaactc
     2221 catccacctc tacaccttcg acgtcgcatt tgcgcagcct gtttgcccca ccttcaccgt
     2281 gtggaacaag tgtctgacga ttatcactgg gctccctatc ccagaccatt tggactgcac
     2341 agagcagctg ccgtgagcgt ctggccacat ggagctgctt tctggggaac agtaaggttc
     2401 aggccactat ttaggggact gagaaagcac aggcttcatg agtgtaatga aatctcacca
     2461 gaagtgtccc gaaatcggct cagatagggc tcaaaacaag agattcctct ccttttactg
     2521 tgtcttgtat taagtacggg ctttaataat ttctttaatt tttttgtatt tagaggaaaa
     2581 tctatagatt atttataaga gaaacataat caggattaca acttttagga attacttggt
     2641 tttgcacatt aagaggccca taagtttatc agctatttac aaccttcatt tcatcacaat
     2701 ctgtgggctt acaaaaaaac aaaaactttt gtagttttgt atgttactca tcttcttacc
     2761 tgatatccca tgatgatccc atggtaggtc ttctcacctc gatggtgcat aacaggatgt
     2821 gtttgaacct agtaggggag gaaacaggct ttcttactct ggtttaattt gaagtgtttt
     2881 aattgtgatg tcaaaaagtt gtatcagatc aactaaaatg gagagcaaga cagagaatga
     2941 aaagagttga ttttggacct cggaccttgc cgtggctaaa tctttacctt ctcatagctg
     3001 atgggataat gttggaaaga aaggttctga atcctttggc cacattttgc cctgcttctc
     3061 tcagggttaa gggttctgga agaacattaa gaatgagatt gcaattgaaa atagtcattt
     3121 tgaatcctat tgattattca aaaattcagg ctgatttgtc ttttatcaga ggtaggattc
     3181 tgttttatag tatagaatct actttatcct tccttttaat agttccttta gacctgtgaa
     3241 atttcttcac tacatttaat agttctccta tttcccgctc ccccatatca attttccttt
     3301 tgtctccggg gctgagtaaa taaacatgtt ctgtcacaaa tagcagcacc actttggatt
     3361 gattttgctc tccaggacat cagcacatgg ccctgatcag cactaccaca tccaaacata
     3421 agtcactgaa aaacacttaa tatttatgag ttggtaatga caagggacat tgtataaagt
     3481 actatttgct agattcatgc ctcaaaagtt attataaaca gacctttatt aaacacatct
     3541 tgaaagatgt agaagtccct ctatagtcta gtatagttta caatagagtt gtaagaccaa
     3601 aaaaaaaaaa aaaaaattca aactcgttat tcaggaacct gcttataaaa tgtcagctgg
     3661 gattctttgc atgccaatct gatgcgttgg aatggtccat gaattaaggc tttcttgagc
     3721 agttcttggc ccagaactct ggcattggtt ctagtttgat gaagggcatg acctctataa
     3781 atggtttcaa ttgctaaaat atttacctgg gatactgggt cagccatttt gactgagcag
     3841 actagtggat ttagacattg tttttagtta ttttgttttt aaccaaatca accaactgcc
     3901 tccctgaaat aagtcaatga actcattgtt tcagcatcac gtggccaaag gtcatgtgat
     3961 tgcaaatctg gatttcaagg gaggccaagc cagcttcctg ggtccttcca tcctcttccc
     4021 tagcagacac tctccttttt cttaacagat agattctata tatttactat attatttata
     4081 cccagatgaa tattttgata gatacctaag acaatttcac atctaaaaga tggacgcctc
     4141 aatggaaaaa aaacaatctt tctctggaaa ccttataggt ttttcttttt attacaatat
     4201 aaaagcaatg tgtgtttgcc ttctctgagt aaactgaaag ggttgtctca gtaattttta
     4261 catacatttt gggtaactgg ataatggata ttttaatgca ctttgtacac taacaggttc
     4321 taaataaaag ggtctaaaac tcagcttctg agtttttaaa atcacggtct ccaggtacca
     4381 ataaatgcta cagtttgcct tatgatgtta acataaaaca cttagtagaa ggacaatatt
     4441 tccatgaaaa taatgttttt caatattaag aagttactac tcaaattttc acagtaagcc
     4501 atttagggta tgtttggcta tttttataag gacatgagag attatgtcat aattttgttg
     4561 tggaagtctc actcttggct aacttaaaag cattgtggat agtagcagtt actagttcca
     4621 ggttgtcata tttacaggaa aatatgtata tggtgaaagg ccaccgtgtt taattactat
     4681 aatgatgtag aaaagattcc cgtgtgaatt ttttttttga aagtctaaaa aatgtatgct
     4741 gtaaaaattt gctgcagtgt aattttgcat tctctttaaa ctgattgagg tcacagtatt
     4801 ttattatttg gggtcctcac cacaggaaac actgcgatac aggggcaaaa gagatggcag
     4861 tgccaattaa attaatacaa caaaatcaat gcagcaccaa ccaagactgc caggtctggt
     4921 gtcatgggta tgcccagagc ccaggagttc agaagggccc taagcctgat ttaatgctct
     4981 gctgttgatg tcttgaaatt cttaacaatt tttgaacaag gggcctgcgt tttcacttcg
     5041 cactgggcct tgcaaattac atagcgagtg ctcataaaag aactcagaaa cgtggtacct
     5101 ctcttcctgg tggatacaaa taaagaaatc tggatccaaa gttgaaagtt gctggcgata
     5161 tcattcaagt aggactctaa atagtggatt aagatgaggg tgggcctggg tgaagattct
     5221 ttccagcttt aaaagaaagt gacttcaaaa actgactgca aatattgacg atggtttctg
     5281 ctggaggaaa agaaacagct tgaatacaga caggcttttt tattacggta ctgatatatt
     5341 gaccttaaac ttgctgagga actgaactaa cgtcctccag tgaccgtgga attccatctc
     5401 agctccagga acatgcagat acctgcaaag agacacgcat atatgctggc atacatgtgc
     5461 atttggtgtt gggaagttga ccatctggtc tatcttaata aaatggtaaa aagcacacca
     5521 agacaatgat gggggcagga ggatgttttt gaaaacagcg cttctcaacc agtgctcgat
     5581 tttgcccccc aggagacatt tggcaatgca atggcaactt ttggttgtcg cagccgggga
     5641 agggaagcta ccagcatcta gtgcgtagag gtcatggacg ccgttaaaca tcctacagtg
     5701 caagcgcagc ccccgaccac gaagagttgt cttgctcaaa tatcaacagt gctgcagtgt
     5761 agaaacttga tcgttggttt tcttttaatg caaaactctc ataaaaacct ttcacttttc
     5821 ctgtcattga ttatatgctt gatacaccca aaaagaaaag gggaggggca ccaattcacc
     5881 tacactccag tggctccatc acctttaaaa atatttataa aatagttcca aaaatctgat
     5941 atctgaaaag caatccaagc ctgtgtaaat gggaatcact gataagtatc atcatctgta
     6001 tcagcttggc ttggacatga aaaattgatt ctctttatgt cactccttgc acctggacaa
     6061 attcaatccc cggtacttaa gtcacactgc caagccctcg gccctgacta ttgtcttgat
     6121 tgctgttcct ttctggttca aaataaaatc atttttgtgg caccaaga
//
LOCUS       NM_000382               3703 bp    mRNA    linear   PRI 19-JUN-2023
DEFINITION  Homo sapiens aldehyde dehydrogenase 3 family member A2 (ALDH3A2),
            transcript variant 2, mRNA.
ACCESSION   NM_000382
VERSION     NM_000382.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3703)
  AUTHORS   Dong H, He L, Sun Q, Zhan J, Li J, Xiong X, Zhuang L, Wu S, Li Y,
            Yin C and He Q.
  TITLE     Inhibit ALDH3A2 reduce ovarian cancer cells survival via elevating
            ferroptosis sensitivity
  JOURNAL   Gene 876, 147515 (2023)
   PUBMED   37247796
  REMARK    GeneRIF: Inhibit ALDH3A2 reduce ovarian cancer cells survival via
            elevating ferroptosis sensitivity.
REFERENCE   2  (bases 1 to 3703)
  AUTHORS   Rajeshwari M, Karthi S, Singh R, Efthymiou S, Gowda VK, Varalakshmi
            P, Srinivasan VM, Houlden H, Keller MA, Rizzo WB and Ashokkumar B.
  TITLE     Novel ALDH3A2 mutations in structural and functional domains of
            FALDH causing diverse clinical phenotypes in Sjogren-Larsson
            syndrome patients
  JOURNAL   Hum Mutat 42 (8), 1015-1029 (2021)
   PUBMED   34082469
  REMARK    GeneRIF: Novel ALDH3A2 mutations in structural and functional
            domains of FALDH causing diverse clinical phenotypes in
            Sjogren-Larsson syndrome patients.
REFERENCE   3  (bases 1 to 3703)
  AUTHORS   Yin Z, Wu D, Shi J, Wei X, Jin N, Lu X and Ren X.
  TITLE     Identification of ALDH3A2 as a novel prognostic biomarker in gastric
            adenocarcinoma using integrated bioinformatics analysis
  JOURNAL   BMC Cancer 20 (1), 1062 (2020)
   PUBMED   33148208
  REMARK    GeneRIF: Identification of ALDH3A2 as a novel prognostic biomarker
            in gastric adenocarcinoma using integrated bioinformatics analysis.
            Erratum:[BMC Cancer. 2020 Nov 24;20(1):1141. PMID: 33234125]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3703)
  AUTHORS   Abidi KT, Kamal NM, Bakkar A AA, Alotaibi M, Asseri H and Bokari KA.
  TITLE     Sjogren-Larsson Syndrome: A case series of five members from an
            extended family with a novel mutation
  JOURNAL   Mol Genet Genomic Med 8 (11), e1487 (2020)
   PUBMED   32930514
  REMARK    GeneRIF: Sjogren-Larsson Syndrome: A case series of five members
            from an extended family with a novel mutation.
REFERENCE   5  (bases 1 to 3703)
  AUTHORS   Rogers GR, Markova NG, De Laurenzi V, Rizzo WB and Compton JG.
  TITLE     Genomic organization and expression of the human fatty aldehyde
            dehydrogenase gene (FALDH)
  JOURNAL   Genomics 39 (2), 127-135 (1997)
   PUBMED   9027499
REFERENCE   6  (bases 1 to 3703)
  AUTHORS   De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM,
            Compton JG, Markova N and Rizzo WB.
  TITLE     Sjogren-Larsson syndrome is caused by mutations in the fatty
            aldehyde dehydrogenase gene
  JOURNAL   Nat Genet 12 (1), 52-57 (1996)
   PUBMED   8528251
REFERENCE   7  (bases 1 to 3703)
  AUTHORS   Rogers GR, Rizzo WB, Zlotogorski A, Hashem N, Lee M, Compton JG and
            Bale SJ.
  TITLE     Genetic homogeneity in Sjogren-Larsson syndrome: linkage to
            chromosome 17p in families of different non-Swedish ethnic origins
  JOURNAL   Am J Hum Genet 57 (5), 1123-1129 (1995)
   PUBMED   7485163
REFERENCE   8  (bases 1 to 3703)
  AUTHORS   Pigg M, Jagell S, Sillen A, Weissenbach J, Gustavson KH and Wadelius
            C.
  TITLE     The Sjogren-Larsson syndrome gene is close to D17S805 as determined
            by linkage analysis and allelic association
  JOURNAL   Nat Genet 8 (4), 361-364 (1994)
   PUBMED   7894487
  REMARK    Erratum:[Nat Genet 1995 Apr;9(4):451]
REFERENCE   9  (bases 1 to 3703)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24501781
REFERENCE   10  (bases 1 to 3703)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301682
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000176643.11/ ENSP00000176643.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB261079.1, AK292381.1,
            AB208894.1, AK123877.1 and AC005722.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 20, 2019 this sequence version replaced NM_000382.2.
            Summary: Aldehyde dehydrogenase isozymes are thought to play a
            major role in the detoxification of aldehydes generated by alcohol
            metabolism and lipid peroxidation. This gene product catalyzes the
            oxidation of long-chain aliphatic aldehydes to fatty acid.
            Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) lacks an alternate segment in
            the 3' coding region compared to variant 1. Isoform 2 has a shorter
            and different C-terminus, compared to isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..3703
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..3703
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /note="aldehyde dehydrogenase 3 family member A2"
                     /db_xref="GeneID:224"
                     /db_xref="HGNC:HGNC:403"
                     /db_xref="MIM:609523"
     CDS             222..1679
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /EC_number="1.2.1.3"
                     /EC_number="1.2.1.94"
                     /note="isoform 2 is encoded by transcript variant 2;
                     aldehyde dehydrogenase 10; fatty aldehyde dehydrogenase;
                     microsomal aldehyde dehydrogenase; aldehyde dehydrogenase
                     family 3 member A2"
                     /codon_start=1
                     /product="aldehyde dehydrogenase family 3 member A2 isoform
                     2"
                     /protein_id="NP_000373.1"
                     /db_xref="CCDS:CCDS11210.1"
                     /db_xref="GeneID:224"
                     /db_xref="HGNC:HGNC:403"
                     /db_xref="MIM:609523"
                     /translation="MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTAI
                     AADLCKSEFNVYSQEVITVLGEIDFMLENLPEWVTAKPVKKNVLTMLDEAYIQPQPLGV
                     VLIIGAWNYPFVLTIQPLIGAIAAGNAVIIKPSELSENTAKILAKLLPQYLDQDLYIVI
                     NGGVEETTELLKQRFDHIFYTGNTAVGKIVMEAAAKHLTPVTLELGGKSPCYIDKDCDL
                     DIVCRRITWGKYMNCGQTCIAPDYILCEASLQNQIVWKIKETVKEFYGENIKESPDYER
                     IINLRHFKRILSLLEGQKIAFGGETDEATRYIAPTVLTDVDPKTKVMQEEIFGPILPIV
                     PVKNVDEAINFINEREKPLALYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPF
                     GGVGSSGMGAYHGKHSFDTFSHQRPCLLKSLKREGANKLRYPPNSQSKVDWGKFFLLKR
                     FNKEKLGLLLLTFLGIVAAVLVKAEYY"
     misc_feature    1098..1100
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P51648.1); phosphorylation site"
     misc_feature    1611..1673
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /note="propagated from UniProtKB/Swiss-Prot (P51648.1);
                     transmembrane region"
     regulatory      1832..1837
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /note="hexamer: AATAAA"
     polyA_site      1851
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /note="major polyA site"
     regulatory      3494..3499
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /note="hexamer: GATAAA"
     polyA_site      3519
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /note="major polyA site"
     regulatory      3677..3682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /note="hexamer: TATAAA"
     polyA_site      3703
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /note="major polyA site"
ORIGIN
        1 agtcctcccc cggcgcctcc gactggcagt gggactcagc gggcgtggag gtcgcggctg
       61 agcgagcgag ccctgggcga gtgaattgtg gctgtgggtt gacggtggag acaccccccg
      121 gagggaggcg gagggaaggg aggcgaggcc tgcacctgca tgcttcccgc ctcccactcc
      181 ccagcgcccc cggaccgtgc agttctctgc aggaccaggc catggagctc gaagtccggc
      241 gggtccgaca ggcgttcctg tccggccggt cgcgacctct gcggtttcgg ctgcagcagc
      301 tggaggccct gcggaggatg gtgcaggagc gcgagaagga tatcctgacg gccatcgccg
      361 ccgacctgtg caagagtgaa ttcaatgtgt acagtcagga agtcattact gtccttgggg
      421 aaattgattt tatgcttgag aatcttcctg aatgggttac tgctaaacca gttaagaaga
      481 acgtgctcac catgctggat gaggcctata ttcagccaca gcctctggga gtggtgctga
      541 taatcggagc ttggaattac cccttcgttc tcaccattca gccactgata ggagccatcg
      601 ctgcaggaaa tgctgtgatt ataaagcctt ctgaactgag tgaaaataca gccaagatct
      661 tggcaaagct tctccctcag tatttagacc aggatctcta tattgttatt aatggtggtg
      721 ttgaggaaac cacggagctc ctgaagcagc gatttgacca cattttctat acgggaaaca
      781 ctgcggttgg caaaattgtc atggaagctg ctgccaagca tctgacccct gtgactcttg
      841 aactgggagg gaaaagtcca tgttatattg ataaagattg tgacctggac attgtttgca
      901 gacgcataac ctggggaaaa tacatgaatt gtggccaaac ctgcattgca cccgactata
      961 ttctctgtga agcatccctc caaaatcaaa ttgtatggaa gattaaggaa acagtgaagg
     1021 aattttatgg agaaaatata aaagagtctc ctgattatga aaggatcatc aatcttcgtc
     1081 attttaagag gatactaagt ttgcttgaag gacaaaagat agcttttggt ggggagactg
     1141 atgaggccac acgctacata gccccaacag tacttaccga tgttgatcct aaaaccaagg
     1201 tgatgcaaga agaaattttt ggaccaattc ttccaatagt gcctgtgaaa aatgtagatg
     1261 aggccataaa tttcataaat gaacgtgaaa agcctctggc tctttatgta ttttcgcata
     1321 accataagct catcaaacgg atgattgatg agacatccag tggaggtgtc acaggcaatg
     1381 acgtcattat gcacttcacg ctcaactctt tcccatttgg aggagtgggt tccagtggga
     1441 tgggagctta tcacggaaaa catagttttg atactttttc tcatcagcgt ccctgtttat
     1501 taaaaagttt aaagagagaa ggtgctaaca aactcagata tcctcccaac agccagtcaa
     1561 aggtggattg gggaaaattt tttctcttga aacggttcaa caaagaaaaa ctcggtctcc
     1621 tgttgctcac tttcctgggt attgtagccg ctgtgcttgt caaggcagaa tattactgaa
     1681 gaatgatcct gttcaacctc ctagtgcctc tactgaatta ttcctctttt aaatggttaa
     1741 tgaaccaata atttttaaat cataccaaaa atagtaagaa aatatgcaaa cactctgtga
     1801 tcaaacttaa aagtcattgc cattcatcat taataaaagt tgccatttca actacgtccc
     1861 aacattccct aatagggtat tcagggaacc tgtcttaaat tgtgcttatc taaatcttgg
     1921 aactttgagc taggggagga gaatgtatta gactaaatac aaactgcggg gttgtaaggg
     1981 agtctcagaa cctcactgaa tccttcactc cagttaatgg cactgctcac ttcctgcctc
     2041 tgctgccacc atcactgtgt gaagctttca agagcttggt acttcccagg gctaccggca
     2101 gtcctctgta gtccagagag gtgagattag atcttcttgg ttccctgtga ggtttcaggc
     2161 actaaaactc tatgtgggga agggaggggt tactcctcct ccaatgggac tcaaggactt
     2221 gacctccagg agtaggcccc tggtcagaag tgccatctca ccagtggtct tcattcttcc
     2281 tcattcattc tttatcatcc tgtgttctgt ttagttgcaa caatctcttg tgactaatgt
     2341 cactcaaagc atcttgtaaa tcctagggct tcctggaagt tagttgccaa agtcatgcaa
     2401 gcatcacctg tcattcttgt gttggagtta tagaattcta catcttataa aacctaactg
     2461 gcatttaaaa aatactgtgg ccgggcgtgg tggctcatgc ctgtaatccc agcactttgg
     2521 gaggccgagg tgggaggatt gcttgagtcc aggaatttga gaccagcctg gacaacacag
     2581 tgagacctca tctctatcaa aaaataaaaa ttagctagat gtggtggcat gagcctgtgt
     2641 tcccagctgc ttaggaggct gaagcaggag gattgattga gcctgcgagg ccaaggctgc
     2701 agcaggctgt gattgcacca ctgcacttca gcttgggcaa cagagcaaga ccctgtctcc
     2761 gaaacaaata aaaaatactg taataaaagt acttataaac atactaatcc tctttcagga
     2821 ccctaaagtt gcaggttagt aggtcttcaa ggacaaatct gtaagtttct tatttctgta
     2881 gtgcaagtaa aatttcactt tttgaaacta tagagagatc cctttctgat tagcctacag
     2941 aacttaaagt gagggaacca tttcctctca cagacaaaga ggcctgggat attaggactt
     3001 tggggtttga gagcatcatg gggcagacag atggtggatg gtctggacaa gaagcgagta
     3061 agccactgcg gttggtcata ctgaagggaa ttgatggcaa gaggatcccc tgagcaagtc
     3121 agaagttact ctcatcagtc gttcatggtc acaacctgag gtactctgct gagtgggcaa
     3181 ggctgaagaa gaggcctgtg gaatgcagca ttacctgctg gacagagcag ggcaggcagt
     3241 tctatgcctt ggagctcctg actgcaggga ctctgtcccc acactcaaaa agactcagct
     3301 cactcaatga gagaatgtga tttactttat agaacgtata atcaactttg ttgaataatt
     3361 tgttctatta aggctgtcta aagtatgtga tgtcttcatc atagtatgaa gtgttgaaaa
     3421 ttaataacga gcctagttta ggaaaaagct gcttaaaact gtggctctaa gagagtaatc
     3481 ataaaatacc ttagataaaa ttgcactatg gaattttcat tgagtatgtt taaattattg
     3541 gcttgtctac taatacacat ctgcttcaaa atgaacatat ttcataaaat tggcatcaat
     3601 tttaatgacg ctcctggtat ggaacctcag atatacccta ttggagacaa tcctttgatc
     3661 ataaattctc cccaactata aatcatttta tgtctttatc ata
//
LOCUS       NM_000383               2690 bp    mRNA    linear   PRI 23-MAY-2023
DEFINITION  Homo sapiens autoimmune regulator (AIRE), mRNA.
ACCESSION   NM_000383
VERSION     NM_000383.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2690)
  AUTHORS   Matsumoto M, Ohmura T, Hanibuchi Y, Ichimura-Shimizu M, Saijo Y,
            Ogawa H, Miyazawa R, Morimoto J, Tsuneyama K, Matsumoto M and Oya T.
  TITLE     AIRE illuminates the feature of medullary thymic epithelial cells in
            thymic carcinoma
  JOURNAL   Cancer Med 12 (8), 9843-9848 (2023)
   PUBMED   36912123
  REMARK    GeneRIF: AIRE illuminates the feature of medullary thymic epithelial
            cells in thymic carcinoma.
REFERENCE   2  (bases 1 to 2690)
  AUTHORS   Abdel Ghafar MT, Elshora OA, Allam AA, Mashaal RG, Hamous SAA, Abd
            El-Khalik SR, Abd-Ellatif RN, Mariah RA, Eissa R, Mwafy M, Shalaby
            RE, Nasif E and Elkholy RA.
  TITLE     Autoimmune Regulator Gene Polymorphisms and the Risk of Primary
            Immune Thrombocytopenic Purpura: A Case-Control Study
  JOURNAL   Int J Mol Sci 24 (5), 5007 (2023)
   PUBMED   36902438
  REMARK    GeneRIF: Autoimmune Regulator Gene Polymorphisms and the Risk of
            Primary Immune Thrombocytopenic Purpura: A Case-Control Study.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2690)
  AUTHORS   Coban U and Celik ZB.
  TITLE     The promoter methylations of the autoimmune regulator (AIRE) gene
            and matrix metalloproteinase-3 (MMP-3) gene may have a role in
            gestational diabetes mellitus
  JOURNAL   Eur Rev Med Pharmacol Sci 27 (3), 1051-1057 (2023)
   PUBMED   36808352
  REMARK    GeneRIF: The promoter methylations of the autoimmune regulator
            (AIRE) gene and matrix metalloproteinase-3 (MMP-3) gene may have a
            role in gestational diabetes mellitus.
REFERENCE   4  (bases 1 to 2690)
  AUTHORS   Wang J, Li J and Yao X.
  TITLE     [Effects of FoxN1, p63 and AIRE on the process of age-related thymus
            involution: An update]
  JOURNAL   Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 39 (1), 88-94 (2023)
   PUBMED   36631020
  REMARK    GeneRIF: [Effects of FoxN1, p63 and AIRE on the process of
            age-related thymus involution: An update]. Review article
REFERENCE   5  (bases 1 to 2690)
  AUTHORS   Akirav EM, Ruddle NH and Herold KC.
  TITLE     The role of AIRE in human autoimmune disease
  JOURNAL   Nat Rev Endocrinol 7 (1), 25-33 (2011)
   PUBMED   21102544
  REMARK    GeneRIF: mutations of AIRE lead to the failure to eliminate
            autoreactive T cells, which can lead to clinical autoimmune
            syndromes. Review article
REFERENCE   6  (bases 1 to 2690)
  AUTHORS   Scott HS, Heino M, Peterson P, Mittaz L, Lalioti MD, Betterle C,
            Cohen A, Seri M, Lerone M, Romeo G, Collin P, Salo M, Metcalfe R,
            Weetman A, Papasavvas MP, Rossier C, Nagamine K, Kudoh J, Shimizu N,
            Krohn KJ and Antonarakis SE.
  TITLE     Common mutations in autoimmune
            polyendocrinopathy-candidiasis-ectodermal dystrophy patients of
            different origins
  JOURNAL   Mol Endocrinol 12 (8), 1112-1119 (1998)
   PUBMED   9717837
REFERENCE   7  (bases 1 to 2690)
  CONSRTM   Finnish-German APECED Consortium
  TITLE     An autoimmune disease, APECED, caused by mutations in a novel gene
            featuring two PHD-type zinc-finger domains
  JOURNAL   Nat Genet 17 (4), 399-403 (1997)
   PUBMED   9398840
REFERENCE   8  (bases 1 to 2690)
  AUTHORS   Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M,
            Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa
            S, Ito F and Shimizu N.
  TITLE     Positional cloning of the APECED gene
  JOURNAL   Nat Genet 17 (4), 393-398 (1997)
   PUBMED   9398839
REFERENCE   9  (bases 1 to 2690)
  AUTHORS   Aaltonen J, Horelli-Kuitunen N, Fan JB, Bjorses P, Perheentupa J,
            Myers R, Palotie A and Peltonen L.
  TITLE     High-resolution physical and transcriptional mapping of the
            autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus
            on chromosome 21q22.3 by FISH
  JOURNAL   Genome Res 7 (8), 820-829 (1997)
   PUBMED   9267805
REFERENCE   10  (bases 1 to 2690)
  AUTHORS   Aaltonen J, Bjorses P, Sandkuijl L, Perheentupa J and Peltonen L.
  TITLE     An autosomal locus causing autoimmune disease: autoimmune
            polyglandular disease type I assigned to chromosome 21
  JOURNAL   Nat Genet 8 (1), 83-87 (1994)
   PUBMED   7987397
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: Z97990.1, AB006682.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000291582.6/ ENSP00000291582.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC142608.1, AB006682.1 and
            AP001060.1.
            On Nov 23, 2018 this sequence version replaced NM_000383.3.
            Summary: This gene encodes a transcriptional regulator that forms
            nuclear bodies and interacts with the transcriptional coactivator
            CREB binding protein. The encoded protein plays an important role
            in immunity by regulating the expression of autoantigens and
            negative selection of autoreactive T-cells in the thymus. Mutations
            in this gene cause the rare autosomal-recessive systemic autoimmune
            disease termed autoimmune polyendocrinopathy with candidiasis and
            ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012].
            Sequence Note:.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2690
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..2690
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="autoimmune regulator"
                     /db_xref="GeneID:326"
                     /db_xref="HGNC:HGNC:360"
                     /db_xref="MIM:607358"
     CDS             132..1769
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="autoimmune polyendocrinopathy candidiasis ectodermal
                     dystrophy protein"
                     /codon_start=1
                     /product="autoimmune regulator"
                     /protein_id="NP_000374.1"
                     /db_xref="CCDS:CCDS13706.1"
                     /db_xref="GeneID:326"
                     /db_xref="HGNC:HGNC:360"
                     /db_xref="MIM:607358"
                     /translation="MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQE
                     TLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDV
                     DLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPP
                     KKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKK
                     CIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPA
                     PLALPSDPQLHQKNEDECAVCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSC
                     LQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPA
                     PPSAAPLPGLDSSALHPLLCVGPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCH
                     FPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLE
                     SLLSEHTFDGILQWAIQSMARPAAPFPS"
     misc_feature    150..164
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="propagated from UniProtKB/Swiss-Prot (O43918.1);
                     Region: LXXLL motif 1"
     misc_feature    318..332
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="propagated from UniProtKB/Swiss-Prot (O43918.1);
                     Region: LXXLL motif 2"
     misc_feature    432..665
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="propagated from UniProtKB/Swiss-Prot (O43918.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    831..1001
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="propagated from UniProtKB/Swiss-Prot (O43918.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1014..1025
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="propagated from UniProtKB/Swiss-Prot (O43918.1);
                     Region: Interaction with histone H3 not methylated at
                     'Lys-4'"
     misc_feature    1041..1067
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="propagated from UniProtKB/Swiss-Prot (O43918.1);
                     Region: Interaction with histone H3 not methylated at
                     'Lys-4'"
     misc_feature    1122..1136
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="propagated from UniProtKB/Swiss-Prot (O43918.1);
                     Region: Interaction with histone H3 not methylated at
                     'Lys-4'"
     misc_feature    1173..1277
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="propagated from UniProtKB/Swiss-Prot (O43918.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1371..1385
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="propagated from UniProtKB/Swiss-Prot (O43918.1);
                     Region: LXXLL motif 3"
     misc_feature    1596..1655
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="propagated from UniProtKB/Swiss-Prot (O43918.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1677..1691
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="propagated from UniProtKB/Swiss-Prot (O43918.1);
                     Region: LXXLL motif 4"
     regulatory      2665..2670
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="hexamer: AGTAAA"
     polyA_site      2690
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="major polyA site"
ORIGIN
        1 ggggagacgg gcgggcgcac agccggcgcg gaggccccac agccccgccg ggacccgagg
       61 ccaagcgagg ggctgccagt gtcccgggac ccaccgcgtc cgccccagcc ccgggtcccc
      121 gcgcccaccc catggcgacg gacgcggcgc tacgccggct tctgaggctg caccgcacgg
      181 agatcgcggt ggccgtggac agcgccttcc cactgctgca cgcgctggct gaccacgacg
      241 tggtccccga ggacaagttt caggagacgc ttcatctgaa ggaaaaggag ggctgccccc
      301 aggccttcca cgccctcctg tcctggctgc tgacccagga ctccacagcc atcctggact
      361 tctggagggt gctgttcaag gactacaacc tggagcgcta tggccggctg cagcccatcc
      421 tggacagctt ccccaaagat gtggacctca gccagccccg gaaggggagg aagcccccgg
      481 ccgtccccaa ggctttggta ccgccaccca gactccccac caagaggaag gcctcagaag
      541 aggctcgagc tgccgcgcca gcagccctga ctccaagggg caccgccagc ccaggctctc
      601 aactgaaggc caagcccccc aagaagccgg agagcagcgc agagcagcag cgccttccac
      661 tcgggaacgg gattcagacc atgtcagctt cagtccagag agctgtggcc atgtcctccg
      721 gggacgtccc gggagcccga ggggccgtgg aggggatcct catccagcag gtgtttgagt
      781 caggcggctc caagaagtgc atccaggttg gcggggagtt ctacactccc agcaagttcg
      841 aagactccgg cagtgggaag aacaaggccc gcagcagcag tggcccgaag cctctggttc
      901 gagccaaggg agcccagggc gctgcccccg gtggaggtga ggctaggctg ggccagcagg
      961 gcagcgttcc cgcccctctg gccctcccca gtgaccccca gctccaccag aagaatgagg
     1021 acgagtgtgc cgtgtgtcgg gacggcgggg agctcatctg ctgtgacggc tgccctcggg
     1081 ccttccacct ggcctgcctg tcccctccgc tccgggagat ccccagtggg acctggaggt
     1141 gctccagctg cctgcaggca acagtccagg aggtgcagcc ccgggcagag gagccccggc
     1201 cccaggagcc acccgtggag accccgctcc ccccggggct taggtcggcg ggagaggagg
     1261 taagaggtcc acctggggaa cccctagccg gcatggacac gactcttgtc tacaagcacc
     1321 tgccggctcc gccttctgca gccccgctgc cagggctgga ctcctcggcc ctgcaccccc
     1381 tactgtgtgt gggtcctgag ggtcagcaga acctggctcc tggtgcgcgt tgcggggtgt
     1441 gcggagatgg tacggacgtg ctgcggtgta ctcactgcgc cgctgccttc cactggcgct
     1501 gccacttccc agccggcacc tcccggcccg ggacgggcct gcgctgcaga tcctgctcag
     1561 gagacgtgac cccagcccct gtggaggggg tgctggcccc cagccccgcc cgcctggccc
     1621 ctgggcctgc caaggatgac actgccagtc acgagcccgc tctgcacagg gatgacctgg
     1681 agtcccttct gagcgagcac accttcgatg gcatcctgca gtgggccatc cagagcatgg
     1741 cccgtccggc ggcccccttc ccctcctgac cccagatggc cgggacatgc agctctgatg
     1801 agagagtgct gagaaggaca cctccttcct cagtcctgga agccggccgg ctgggatcaa
     1861 gaaggggaca gcgccacctc ttgtcagtgc tcggctgtaa acagctctgt gtttctgggg
     1921 acaccagcca tcatgtgcct ggaaattaaa ccctgcccca cttctctact ctggaagtcc
     1981 ccgggagcct ctccttgcct ggtgacctac taaaaatata aaaattagct gggtgtggtg
     2041 gtgggtgcct gtaatcccag ctacatggga gcctgaggca tgagaatcac ttgaactcgg
     2101 gaggtggagg ttgcagtgag ctgagattgc gccactgcac tccagtctgg tcggcaagag
     2161 tgagactccg tctcaaaaac aaaacaaaac aaaaaaacca cataacataa atttatcatc
     2221 tcgaccactt ttcagttcag tggcattcac atctcatgta accattgcca ccaccatctg
     2281 cagagctgtt ccagcttcct gaatggaaac tctggcccca tgaaacactc actccccatt
     2341 cccctcccaa cccctggcac cctccactct actttctgtc tctatgactt ctccagggac
     2401 ctcatggaag tggaatcaca cagtatctgt ccttttgtgt ctgtcttatt ttactcagca
     2461 tggtggcccc aaggttcatc catgttgtag catgtgccga aatctgcttc cttttttaag
     2521 gctgagtaat attccagcac atggatggac tgcattgtgt tcatctatgc tttcctcagc
     2581 agacacctgg gtgcttccac cttttggctg ttgtgagtaa tgctgctatg aatatgtgtg
     2641 tgcaaatatc tgtgtgagtc tttgagtaaa atcgctggat cacatggtaa
//
LOCUS       NM_000384              14121 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens apolipoprotein B (APOB), mRNA.
ACCESSION   NM_000384
VERSION     NM_000384.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 14121)
  AUTHORS   AbdElneam AI, Al-Dhubaibi MS, Bahaj SS, Mohammed GF and Atef LM.
  TITLE     Apo B-48 gene expression and low-density lipoprotein as a factor for
            increased insulin resistance and severity of acne
  JOURNAL   Gene 885, 147703 (2023)
   PUBMED   37572798
  REMARK    GeneRIF: Apo B-48 gene expression and low-density lipoprotein as a
            factor for increased insulin resistance and severity of acne.
REFERENCE   2  (bases 1 to 14121)
  AUTHORS   Schooling CM, Au Yeung SL, Kwok MK and Leung GM.
  TITLE     Breastfeeding and ApoB in late adolescence: a Hong Kong birth cohort
            study
  JOURNAL   Eur J Pediatr 182 (8), 3733-3741 (2023)
   PUBMED   37289232
  REMARK    GeneRIF: Breastfeeding and ApoB in late adolescence: a Hong Kong
            birth cohort study.
REFERENCE   3  (bases 1 to 14121)
  AUTHORS   Rodriguez-Jimenez C, de la Pena G, Sanguino J, Poyatos-Pelaez S,
            Carazo A, Martinez-Hernandez PL, Arrieta F, Mostaza JM,
            Gomez-Coronado D and Rodriguez-Novoa S.
  TITLE     Identification and Functional Analysis of APOB Variants in a Cohort
            of Hypercholesterolemic Patients
  JOURNAL   Int J Mol Sci 24 (8), 7635 (2023)
   PUBMED   37108800
  REMARK    GeneRIF: Identification and Functional Analysis of APOB Variants in
            a Cohort of Hypercholesterolemic Patients. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 14121)
  AUTHORS   Chen J, Li K, Shao J, Lai Z, Feng Y and Liu B.
  TITLE     The Correlation of Apolipoprotein B with Alterations in Specific Fat
            Depots Content in Adults
  JOURNAL   Int J Mol Sci 24 (7), 6310 (2023)
   PUBMED   37047284
  REMARK    GeneRIF: The Correlation of Apolipoprotein B with Alterations in
            Specific Fat Depots Content in Adults. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 14121)
  AUTHORS   Burnett,J.R., Hooper,A.J. and Hegele,R.A.
  TITLE     APOB-Related Familial Hypobetalipoproteinemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   33983694
REFERENCE   6  (bases 1 to 14121)
  AUTHORS   Ison,H.E., Clarke,S.L. and Knowles,J.W.
  TITLE     Familial Hypercholesterolemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24404629
REFERENCE   7  (bases 1 to 14121)
  AUTHORS   Deeb SS, Failor RA, Brown BG, Brunzell JD, Albers JJ, Motulsky AG
            and Wijsman E.
  TITLE     Association of apolipoprotein B gene variants with plasma apoB and
            low density lipoprotein (LDL) cholesterol levels
  JOURNAL   Hum Genet 88 (4), 463-470 (1992)
   PUBMED   1346774
REFERENCE   8  (bases 1 to 14121)
  AUTHORS   Sehayek E and Eisenberg S.
  TITLE     Mechanisms of inhibition by apolipoprotein C of apolipoprotein
            E-dependent cellular metabolism of human triglyceride-rich
            lipoproteins through the low density lipoprotein receptor pathway
  JOURNAL   J Biol Chem 266 (27), 18259-18267 (1991)
   PUBMED   1917954
REFERENCE   9  (bases 1 to 14121)
  AUTHORS   Navajas M, Laurent AM, Moreel JF, Ragab A, Cambou JP, Cuny G,
            Cambien F and Roizes G.
  TITLE     Detection by denaturing gradient gel electrophoresis of a new
            polymorphism in the apolipoprotein B gene
  JOURNAL   Hum Genet 86 (1), 91-93 (1990)
   PUBMED   1979313
REFERENCE   10  (bases 1 to 14121)
  AUTHORS   Higuchi K, Hospattankar AV, Law SW, Meglin N, Cortright J and Brewer
            HB Jr.
  TITLE     Human apolipoprotein B (apoB) mRNA: identification of two distinct
            apoB mRNAs, an mRNA with the apoB-100 sequence and an apoB mRNA
            containing a premature in-frame translational stop codon, in both
            liver and intestine
  JOURNAL   Proc Natl Acad Sci U S A 85 (6), 1772-1776 (1988)
   PUBMED   2450346
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X04506.1, HM487065.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN04284274
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000233242.5/ ENSP00000233242.1
            RefSeq Select criteria :: based on single protein-coding transcript
            undergoes RNA editing       :: PMID: 16920700, 11727199
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010872.8, KF456638.1 and
            AC115619.3.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000384.2.
            Summary: This gene product is the main apolipoprotein of
            chylomicrons and low density lipoproteins (LDL), and is the ligand
            for the LDL receptor. It occurs in plasma as two main isoforms,
            apoB-48 and apoB-100: the former is synthesized exclusively in the
            gut and the latter in the liver. The intestinal and the hepatic
            forms of apoB are encoded by a single gene from a single, very long
            mRNA. The two isoforms share a common N-terminal sequence. The
            shorter apoB-48 protein is produced after RNA editing of the
            apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the
            creation of a stop codon, and early translation termination.
            Mutations in this gene or its regulatory region cause
            hypobetalipoproteinemia, normotriglyceridemic
            hypobetalipoproteinemia, and hypercholesterolemia due to
            ligand-defective apoB, diseases affecting plasma cholesterol and
            apoB levels. [provided by RefSeq, Dec 2019].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..14121
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p24.1"
     gene            1..14121
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="apolipoprotein B"
                     /db_xref="GeneID:338"
                     /db_xref="HGNC:HGNC:603"
                     /db_xref="MIM:107730"
     misc_feature    24..26
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="upstream in-frame stop codon"
     CDS             129..13820
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="apolipoprotein B-100; apolipoprotein B48;
                     apolipoprotein B (including Ag(x) antigen)"
                     /codon_start=1
                     /product="apolipoprotein B-100 precursor"
                     /protein_id="NP_000375.3"
                     /db_xref="CCDS:CCDS1703.1"
                     /db_xref="GeneID:338"
                     /db_xref="HGNC:HGNC:603"
                     /db_xref="MIM:107730"
                     /translation="MDPPRPALLALLALPALLLLLLAGARAEEEMLENVSLVCPKDATR
                     FKHLRKYTYNYEAESSSGVPGTADSRSATRINCKVELEVPQLCSFILKTSQCTLKEVYG
                     FNPEGKALLKKTKNSEEFAAAMSRYELKLAIPEGKQVFLYPEKDEPTYILNIKRGIISA
                     LLVPPETEEAKQVLFLDTVYGNCSTHFTVKTRKGNVATEISTERDLGQCDRFKPIRTGI
                     SPLALIKGMTRPLSTLISSSQSCQYTLDAKRKHVAEAICKEQHLFLPFSYKNKYGMVAQ
                     VTQTLKLEDTPKINSRFFGEGTKKMGLAFESTKSTSPPKQAEAVLKTLQELKKLTISEQ
                     NIQRANLFNKLVTELRGLSDEAVTSLLPQLIEVSSPITLQALVQCGQPQCSTHILQWLK
                     RVHANPLLIDVVTYLVALIPEPSAQQLREIFNMARDQRSRATLYALSHAVNNYHKTNPT
                     GTQELLDIANYLMEQIQDDCTGDEDYTYLILRVIGNMGQTMEQLTPELKSSILKCVQST
                     KPSLMIQKAAIQALRKMEPKDKDQEVLLQTFLDDASPGDKRLAAYLMLMRSPSQADINK
                     IVQILPWEQNEQVKNFVASHIANILNSEELDIQDLKKLVKEALKESQLPTVMDFRKFSR
                     NYQLYKSVSLPSLDPASAKIEGNLIFDPNNYLPKESMLKTTLTAFGFASADLIEIGLEG
                     KGFEPTLEALFGKQGFFPDSVNKALYWVNGQVPDGVSKVLVDHFGYTKDDKHEQDMVNG
                     IMLSVEKLIKDLKSKEVPEARAYLRILGEELGFASLHDLQLLGKLLLMGARTLQGIPQM
                     IGEVIRKGSKNDFFLHYIFMENAFELPTGAGLQLQISSSGVIAPGAKAGVKLEVANMQA
                     ELVAKPSVSVEFVTNMGIIIPDFARSGVQMNTNFFHESGLEAHVALKAGKLKFIIPSPK
                     RPVKLLSGGNTLHLVSTTKTEVIPPLIENRQSWSVCKQVFPGLNYCTSGAYSNASSTDS
                     ASYYPLTGDTRLELELRPTGEIEQYSVSATYELQREDRALVDTLKFVTQAEGAKQTEAT
                     MTFKYNRQSMTLSSEVQIPDFDVDLGTILRVNDESTEGKTSYRLTLDIQNKKITEVALM
                     GHLSCDTKEERKIKGVISIPRLQAEARSEILAHWSPAKLLLQMDSSATAYGSTVSKRVA
                     WHYDEEKIEFEWNTGTNVDTKKMTSNFPVDLSDYPKSLHMYANRLLDHRVPQTDMTFRH
                     VGSKLIVAMSSWLQKASGSLPYTQTLQDHLNSLKEFNLQNMGLPDFHIPENLFLKSDGR
                     VKYTLNKNSLKIEIPLPFGGKSSRDLKMLETVRTPALHFKSVGFHLPSREFQVPTFTIP
                     KLYQLQVPLLGVLDLSTNVYSNLYNWSASYSGGNTSTDHFSLRARYHMKADSVVDLLSY
                     NVQGSGETTYDHKNTFTLSCDGSLRHKFLDSNIKFSHVEKLGNNPVSKGLLIFDASSSW
                     GPQMSASVHLDSKKKQHLFVKEVKIDGQFRVSSFYAKGTYGLSCQRDPNTGRLNGESNL
                     RFNSSYLQGTNQITGRYEDGTLSLTSTSDLQSGIIKNTASLKYENYELTLKSDTNGKYK
                     NFATSNKMDMTFSKQNALLRSEYQADYESLRFFSLLSGSLNSHGLELNADILGTDKINS
                     GAHKATLRIGQDGISTSATTNLKCSLLVLENELNAELGLSGASMKLTTNGRFREHNAKF
                     SLDGKAALTELSLGSAYQAMILGVDSKNIFNFKVSQEGLKLSNDMMGSYAEMKFDHTNS
                     LNIAGLSLDFSSKLDNIYSSDKFYKQTVNLQLQPYSLVTTLNSDLKYNALDLTNNGKLR
                     LEPLKLHVAGNLKGAYQNNEIKHIYAISSAALSASYKADTVAKVQGVEFSHRLNTDIAG
                     LASAIDMSTNYNSDSLHFSNVFRSVMAPFTMTIDAHTNGNGKLALWGEHTGQLYSKFLL
                     KAEPLAFTFSHDYKGSTSHHLVSRKSISAALEHKVSALLTPAEQTGTWKLKTQFNNNEY
                     SQDLDAYNTKDKIGVELTGRTLADLTLLDSPIKVPLLLSEPINIIDALEMRDAVEKPQE
                     FTIVAFVKYDKNQDVHSINLPFFETLQEYFERNRQTIIVVLENVQRNLKHINIDQFVRK
                     YRAALGKLPQQANDYLNSFNWERQVSHAKEKLTALTKKYRITENDIQIALDDAKINFNE
                     KLSQLQTYMIQFDQYIKDSYDLHDLKIAIANIIDEIIEKLKSLDEHYHIRVNLVKTIHD
                     LHLFIENIDFNKSGSSTASWIQNVDTKYQIRIQIQEKLQQLKRHIQNIDIQHLAGKLKQ
                     HIEAIDVRVLLDQLGTTISFERINDILEHVKHFVINLIGDFEVAEKINAFRAKVHELIE
                     RYEVDQQIQVLMDKLVELAHQYKLKETIQKLSNVLQQVKIKDYFEKLVGFIDDAVKKLN
                     ELSFKTFIEDVNKFLDMLIKKLKSFDYHQFVDETNDKIREVTQRLNGEIQALELPQKAE
                     ALKLFLEETKATVAVYLESLQDTKITLIINWLQEALSSASLAHMKAKFRETLEDTRDRM
                     YQMDIQQELQRYLSLVGQVYSTLVTYISDWWTLAAKNLTDFAEQYSIQDWAKRMKALVE
                     QGFTVPEIKTILGTMPAFEVSLQALQKATFQTPDFIVPLTDLRIPSVQINFKDLKNIKI
                     PSRFSTPEFTILNTFHIPSFTIDFVEMKVKIIRTIDQMLNSELQWPVPDIYLRDLKVED
                     IPLARITLPDFRLPEIAIPEFIIPTLNLNDFQVPDLHIPEFQLPHISHTIEVPTFGKLY
                     SILKIQSPLFTLDANADIGNGTTSANEAGIAASITAKGESKLEVLNFDFQANAQLSNPK
                     INPLALKESVKFSSKYLRTEHGSEMLFFGNAIEGKSNTVASLHTEKNTLELSNGVIVKI
                     NNQLTLDSNTKYFHKLNIPKLDFSSQADLRNEIKTLLKAGHIAWTSSGKGSWKWACPRF
                     SDEGTHESQISFTIEGPLTSFGLSNKINSKHLRVNQNLVYESGSLNFSKLEIQSQVDSQ
                     HVGHSVLTAKGMALFGEGKAEFTGRHDAHLNGKVIGTLKNSLFFSAQPFEITASTNNEG
                     NLKVRFPLRLTGKIDFLNNYALFLSPSAQQASWQVSARFNQYKYNQNFSAGNNENIMEA
                     HVGINGEANLDFLNIPLTIPEMRLPYTIITTPPLKDFSLWEKTGLKEFLKTTKQSFDLS
                     VKAQYKKNKHRHSITNPLAVLCEFISQSIKSFDRHFEKNRNNALDFVTKSYNETKIKFD
                     KYKAEKSHDELPRTFQIPGYTVPVVNVEVSPFTIEMSAFGYVFPKAVSMPSFSILGSDV
                     RVPSYTLILPSLELPVLHVPRNLKLSLPDFKELCTISHIFIPAMGNITYDFSFKSSVIT
                     LNTNAELFNQSDIVAHLLSSSSSVIDALQYKLEGTTRLTRKRGLKLATALSLSNKFVEG
                     SHNSTVSLTTKNMEVSVATTTKAQIPILRMNFKQELNGNTKSKPTVSSSMEFKYDFNSS
                     MLYSTAKGAVDHKLSLESLTSYFSIESSTKGDVKGSVLSREYSGTIASEANTYLNSKST
                     RSSVKLQGTSKIDDIWNLEVKENFAGEATLQRIYSLWEHSTKNHLQLEGLFFTNGEHTS
                     KATLELSPWQMSALVQVHASQPSSFHDFPDLGQEVALNANTKNQKIRWKNEVRIHSGSF
                     QSQVELSNDQEKAHLDIAGSLEGHLRFLKNIILPVYDKSLWDFLKLDVTTSIGRRQHLR
                     VSTAFVYTKNPNGYSFSIPVKVLADKFIIPGLKLNDLNSVLVMPTFHVPFTDLQVPSCK
                     LDFREIQIYKKLRTSSFALNLPTLPEVKFPEVDVLTKYSQPEDSLIPFFEITVPESQLT
                     VSQFTLPKSVSDGIAALDLNAVANKIADFELPTIIVPEQTIEIPSIKFSVPAGIVIPSF
                     QALTARFEVDSPVYNATWSASLKNKADYVETVLDSTCSSTVQFLEYELNVLGTHKIEDG
                     TLASKTKGTFAHRDFSAEYEEDGKYEGLQEWEGKAHLNIKSPAFTDLHLRYQKDKKGIS
                     TSAASPAVGTVGMDMDEDDDFSKWNFYYSPQSSPDKKLTIFKTELRVRESDEETQIKVN
                     WEEEAASGLLTSLKDNVPKATGVLYDYVNKYHWEHTGLTLREVSSKLRRNLQNNAEWVY
                     QGAIRQIDDIDVRFQKAASGTTGTYQEWKDKAQNLYQELLTQEGQASFQGLKDNVFDGL
                     VRVTQEFHMKVKHLIDSLIDFLNFPRFQFPGKPGIYTREELCTMFIREVGTVLSQVYSK
                     VHNGSEILFSYFQDLVITLPFELRKHKLIDVISMYRELLKDLSKEAQEVFKAIQSLKTT
                     EVLRNLQDLLQFIFQLIEDNIKQLKEMKFTYLINYIQDEINTIFSDYIPYVFKLLKENL
                     CLNLHKFNEFIQNELQEASQELQQIHQYIMALREEYFDPSIVGWTVKYYELEEKIVSLI
                     KNLLVALKDFHSEYIVSASNFTSQLSSQVEQFLHRNIQEYLSILTDPDGKGKEKIAELS
                     ATAQEIIKSQAIATKKIISDYHQQFRYKLQDFSDQLSDYYEKFIAESKRLIDLSIQNYH
                     TFLIYITELLKKLQSTTVMNPYMKLAPGELTIIL"
     sig_peptide     129..209
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     210..13817
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /product="apolipoprotein B-100"
     mat_peptide     210..6665
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /product="apolipoprotein B-48"
                     /note="The intestinal-specific RNA editing of codon 2180
                     (CAA->UAA) creates a stop codon, resulting in early
                     translation termination"
     misc_feature    222..506
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="propagated from UniProtKB/Swiss-Prot (P04114.2);
                     Region: Heparin-binding"
     misc_feature    228..230
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P04114.2); glycosylation site"
     misc_feature    join(243..245,390..392)
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="disulfide bond"
     misc_feature    join(360..362,417..419)
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="disulfide bond"
     misc_feature    681..683
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="glycosylation site"
     misc_feature    join(684..686,762..764)
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="disulfide bond"
     misc_feature    822..1046
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="propagated from UniProtKB/Swiss-Prot (P04114.2);
                     Region: Heparin-binding"
     misc_feature    join(861..863,909..911)
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="disulfide bond"
     misc_feature    join(1281..1283,1296..1298)
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="disulfide bond"
     misc_feature    join(1560..1562,1665..1667)
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="disulfide bond"
     misc_feature    2832..3005
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="propagated from UniProtKB/Swiss-Prot (P04114.2);
                     Region: Heparin-binding"
     misc_feature    join(3024..3026,3054..3056)
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="disulfide bond"
     misc_feature    3075..3077
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="glycosylation site"
     misc_feature    3462..3464
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="polmitoylation site; modified site"
     misc_feature    4230..4232
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="glycosylation site"
     misc_feature    4257..4259
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="glycosylation site"
     misc_feature    4695..4697
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="glycosylation site"
     misc_feature    6138..6140
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P04114.2); acetylation site"
     misc_feature    6255..6662
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="propagated from UniProtKB/Swiss-Prot (P04114.2);
                     Region: Heparin-binding"
     misc_feature    6666..6668
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="apoB-48, residue Gln(2180) is modified by RNA
                     editing from CAA to a stop codon UAA; Region: apoB-48 site
                     of RNA editing"
     misc_feature    6843..6845
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04114.2); glycosylation site"
     misc_feature    7806..7808
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P04114.2); glycosylation site"
     misc_feature    8463..8465
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04114.2); glycosylation site"
     misc_feature    9072..9074
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04114.2); glycosylation site"
     misc_feature    9429..9431
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04114.2); glycosylation site"
     misc_feature    9609..9836
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="propagated from UniProtKB/Swiss-Prot (P04114.2);
                     Region: Heparin-binding"
     misc_feature    9648..9680
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="propagated from UniProtKB/Swiss-Prot (P04114.2);
                     Region: Basic (possible receptor binding region)"
     misc_feature    join(9708..9710,10098..10100)
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="disulfide bond"
     misc_feature    9798..9800
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04114.2); glycosylation site"
     misc_feature    9963..9965
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P04114.2); phosphorylation site"
     misc_feature    10134..10136
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P04114.2); glycosylation site"
     misc_feature    10200..10202
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="glycosylation site"
     misc_feature    10245..10307
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="propagated from UniProtKB/Swiss-Prot (P04114.2);
                     Region: LDL receptor binding"
     misc_feature    10275..10676
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="propagated from UniProtKB/Swiss-Prot (P04114.2);
                     Region: Heparin-binding"
     misc_feature    10284..10310
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="propagated from UniProtKB/Swiss-Prot (P04114.2);
                     Region: Basic (possible receptor binding region)"
     misc_feature    10359..10361
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04114.2); glycosylation site"
     misc_feature    10521..10523
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04114.2); glycosylation site"
     misc_feature    11811..11813
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04114.2); glycosylation site"
     misc_feature    12270..12272
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P04114.2); phosphorylation site"
     misc_feature    12282..12284
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P04114.2); phosphorylation site"
     misc_feature    12837..12839
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P04114.2); glycosylation site"
     misc_feature    13419..13421
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P04114.2); glycosylation site"
     regulatory      14093..14098
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="hexamer: AATAAA"
     polyA_site      14121
                     /gene="APOB"
                     /gene_synonym="apoB-100; apoB-48; FCHL2; FLDB; LDLCQ4"
                     /note="major polyA site"
ORIGIN
        1 attcccaccg ggacctgcgg ggctgagtgc ccttctcggt tgctgccgct gaggagcccg
       61 cccagccagc cagggccgcg aggccgaggc caggccgcag cccaggagcc gccccaccgc
      121 agctggcgat ggacccgccg aggcccgcgc tgctggcgct gctggcgctg cctgcgctgc
      181 tgctgctgct gctggcgggc gccagggccg aagaggaaat gctggaaaat gtcagcctgg
      241 tctgtccaaa agatgcgacc cgattcaagc acctccggaa gtacacatac aactatgagg
      301 ctgagagttc cagtggagtc cctgggactg ctgattcaag aagtgccacc aggatcaact
      361 gcaaggttga gctggaggtt ccccagctct gcagcttcat cctgaagacc agccagtgca
      421 ccctgaaaga ggtgtatggc ttcaaccctg agggcaaagc cttgctgaag aaaaccaaga
      481 actctgagga gtttgctgca gccatgtcca ggtatgagct caagctggcc attccagaag
      541 ggaagcaggt tttcctttac ccggagaaag atgaacctac ttacatcctg aacatcaaga
      601 ggggcatcat ttctgccctc ctggttcccc cagagacaga agaagccaag caagtgttgt
      661 ttctggatac cgtgtatgga aactgctcca ctcactttac cgtcaagacg aggaagggca
      721 atgtggcaac agaaatatcc actgaaagag acctggggca gtgtgatcgc ttcaagccca
      781 tccgcacagg catcagccca cttgctctca tcaaaggcat gacccgcccc ttgtcaactc
      841 tgatcagcag cagccagtcc tgtcagtaca cactggacgc taagaggaag catgtggcag
      901 aagccatctg caaggagcaa cacctcttcc tgcctttctc ctacaagaat aagtatggga
      961 tggtagcaca agtgacacag actttgaaac ttgaagacac accaaagatc aacagccgct
     1021 tctttggtga aggtactaag aagatgggcc tcgcatttga gagcaccaaa tccacatcac
     1081 ctccaaagca ggccgaagct gttttgaaga ctctccagga actgaaaaaa ctaaccatct
     1141 ctgagcaaaa tatccagaga gctaatctct tcaataagct ggttactgag ctgagaggcc
     1201 tcagtgatga agcagtcaca tctctcttgc cacagctgat tgaggtgtcc agccccatca
     1261 ctttacaagc cttggttcag tgtggacagc ctcagtgctc cactcacatc ctccagtggc
     1321 tgaaacgtgt gcatgccaac ccccttctga tagatgtggt cacctacctg gtggccctga
     1381 tccccgagcc ctcagcacag cagctgcgag agatcttcaa catggcgagg gatcagcgca
     1441 gccgagccac cttgtatgcg ctgagccacg cggtcaacaa ctatcataag acaaacccta
     1501 cagggaccca ggagctgctg gacattgcta attacctgat ggaacagatt caagatgact
     1561 gcactgggga tgaagattac acctatttga ttctgcgggt cattggaaat atgggccaaa
     1621 ccatggagca gttaactcca gaactcaagt cttcaatcct gaaatgtgtc caaagtacaa
     1681 agccatcact gatgatccag aaagctgcca tccaggctct gcggaaaatg gagcctaaag
     1741 acaaggacca ggaggttctt cttcagactt tccttgatga tgcttctccg ggagataagc
     1801 gactggctgc ctatcttatg ttgatgagga gtccttcaca ggcagatatt aacaaaattg
     1861 tccaaattct accatgggaa cagaatgagc aagtgaagaa ctttgtggct tcccatattg
     1921 ccaatatctt gaactcagaa gaattggata tccaagatct gaaaaagtta gtgaaagaag
     1981 ctctgaaaga atctcaactt ccaactgtca tggacttcag aaaattctct cggaactatc
     2041 aactctacaa atctgtttct cttccatcac ttgacccagc ctcagccaaa atagaaggga
     2101 atcttatatt tgatccaaat aactaccttc ctaaagaaag catgctgaaa actaccctca
     2161 ctgcctttgg atttgcttca gctgacctca tcgagattgg cttggaagga aaaggctttg
     2221 agccaacatt ggaagctctt tttgggaagc aaggattttt cccagacagt gtcaacaaag
     2281 ctttgtactg ggttaatggt caagttcctg atggtgtctc taaggtctta gtggaccact
     2341 ttggctatac caaagatgat aaacatgagc aggatatggt aaatggaata atgctcagtg
     2401 ttgagaagct gattaaagat ttgaaatcca aagaagtccc ggaagccaga gcctacctcc
     2461 gcatcttggg agaggagctt ggttttgcca gtctccatga cctccagctc ctgggaaagc
     2521 tgcttctgat gggtgcccgc actctgcagg ggatccccca gatgattgga gaggtcatca
     2581 ggaagggctc aaagaatgac ttttttcttc actacatctt catggagaat gcctttgaac
     2641 tccccactgg agctggatta cagttgcaaa tatcttcatc tggagtcatt gctcccggag
     2701 ccaaggctgg agtaaaactg gaagtagcca acatgcaggc tgaactggtg gcaaaaccct
     2761 ccgtgtctgt ggagtttgtg acaaatatgg gcatcatcat tccggacttc gctaggagtg
     2821 gggtccagat gaacaccaac ttcttccacg agtcgggtct ggaggctcat gttgccctaa
     2881 aagctgggaa gctgaagttt atcattcctt ccccaaagag accagtcaag ctgctcagtg
     2941 gaggcaacac attacatttg gtctctacca ccaaaacgga ggtgatccca cctctcattg
     3001 agaacaggca gtcctggtca gtttgcaagc aagtctttcc tggcctgaat tactgcacct
     3061 caggcgctta ctccaacgcc agctccacag actccgcctc ctactatccg ctgaccgggg
     3121 acaccagatt agagctggaa ctgaggccta caggagagat tgagcagtat tctgtcagcg
     3181 caacctatga gctccagaga gaggacagag ccttggtgga taccctgaag tttgtaactc
     3241 aagcagaagg tgcgaagcag actgaggcta ccatgacatt caaatataat cggcagagta
     3301 tgaccttgtc cagtgaagtc caaattccgg attttgatgt tgacctcgga acaatcctca
     3361 gagttaatga tgaatctact gagggcaaaa cgtcttacag actcaccctg gacattcaga
     3421 acaagaaaat tactgaggtc gccctcatgg gccacctaag ttgtgacaca aaggaagaaa
     3481 gaaaaatcaa gggtgttatt tccatacccc gtttgcaagc agaagccaga agtgagatcc
     3541 tcgcccactg gtcgcctgcc aaactgcttc tccaaatgga ctcatctgct acagcttatg
     3601 gctccacagt ttccaagagg gtggcatggc attatgatga agagaagatt gaatttgaat
     3661 ggaacacagg caccaatgta gataccaaaa aaatgacttc caatttccct gtggatctct
     3721 ccgattatcc taagagcttg catatgtatg ctaatagact cctggatcac agagtccctc
     3781 aaacagacat gactttccgg cacgtgggtt ccaaattaat agttgcaatg agctcatggc
     3841 ttcagaaggc atctgggagt cttccttata cccagacttt gcaagaccac ctcaatagcc
     3901 tgaaggagtt caacctccag aacatgggat tgccagactt ccacatccca gaaaacctct
     3961 tcttaaaaag cgatggccgg gtcaaatata ccttgaacaa gaacagtttg aaaattgaga
     4021 ttcctttgcc ttttggtggc aaatcctcca gagatctaaa gatgttagag actgttagga
     4081 caccagccct ccacttcaag tctgtgggat tccatctgcc atctcgagag ttccaagtcc
     4141 ctacttttac cattcccaag ttgtatcaac tgcaagtgcc tctcctgggt gttctagacc
     4201 tctccacgaa tgtctacagc aacttgtaca actggtccgc ctcctacagt ggtggcaaca
     4261 ccagcacaga ccatttcagc cttcgggctc gttaccacat gaaggctgac tctgtggttg
     4321 acctgctttc ctacaatgtg caaggatctg gagaaacaac atatgaccac aagaatacgt
     4381 tcacactatc atgtgatggg tctctacgcc acaaatttct agattcgaat atcaaattca
     4441 gtcatgtaga aaaacttgga aacaacccag tctcaaaagg tttactaata ttcgatgcat
     4501 ctagttcctg gggaccacag atgtctgctt cagttcattt ggactccaaa aagaaacagc
     4561 atttgtttgt caaagaagtc aagattgatg ggcagttcag agtctcttcg ttctatgcta
     4621 aaggcacata tggcctgtct tgtcagaggg atcctaacac tggccggctc aatggagagt
     4681 ccaacctgag gtttaactcc tcctacctcc aaggcaccaa ccagataaca ggaagatatg
     4741 aagatggaac cctctccctc acctccacct ctgatctgca aagtggcatc attaaaaata
     4801 ctgcttccct aaagtatgag aactacgagc tgactttaaa atctgacacc aatgggaagt
     4861 ataagaactt tgccacttct aacaagatgg atatgacctt ctctaagcaa aatgcactgc
     4921 tgcgttctga atatcaggct gattacgagt cattgaggtt cttcagcctg ctttctggat
     4981 cactaaattc ccatggtctt gagttaaatg ctgacatctt aggcactgac aaaattaata
     5041 gtggtgctca caaggcgaca ctaaggattg gccaagatgg aatatctacc agtgcaacga
     5101 ccaacttgaa gtgtagtctc ctggtgctgg agaatgagct gaatgcagag cttggcctct
     5161 ctggggcatc tatgaaatta acaacaaatg gccgcttcag ggaacacaat gcaaaattca
     5221 gtctggatgg gaaagccgcc ctcacagagc tatcactggg aagtgcttat caggccatga
     5281 ttctgggtgt cgacagcaaa aacattttca acttcaaggt cagtcaagaa ggacttaagc
     5341 tctcaaatga catgatgggc tcatatgctg aaatgaaatt tgaccacaca aacagtctga
     5401 acattgcagg cttatcactg gacttctctt caaaacttga caacatttac agctctgaca
     5461 agttttataa gcaaactgtt aatttacagc tacagcccta ttctctggta actactttaa
     5521 acagtgacct gaaatacaat gctctggatc tcaccaacaa tgggaaacta cggctagaac
     5581 ccctgaagct gcatgtggct ggtaacctaa aaggagccta ccaaaataat gaaataaaac
     5641 acatctatgc catctcttct gctgccttat cagcaagcta taaagcagac actgttgcta
     5701 aggttcaggg tgtggagttt agccatcggc tcaacacaga catcgctggg ctggcttcag
     5761 ccattgacat gagcacaaac tataattcag actcactgca tttcagcaat gtcttccgtt
     5821 ctgtaatggc cccgtttacc atgaccatcg atgcacatac aaatggcaat gggaaactcg
     5881 ctctctgggg agaacatact gggcagctgt atagcaaatt cctgttgaaa gcagaacctc
     5941 tggcatttac tttctctcat gattacaaag gctccacaag tcatcatctc gtgtctagga
     6001 aaagcatcag tgcagctctt gaacacaaag tcagtgccct gcttactcca gctgagcaga
     6061 caggcacctg gaaactcaag acccaattta acaacaatga atacagccag gacttggatg
     6121 cttacaacac taaagataaa attggcgtgg agcttactgg acgaactctg gctgacctaa
     6181 ctctactaga ctccccaatt aaagtgccac ttttactcag tgagcccatc aatatcattg
     6241 atgctttaga gatgagagat gccgttgaga agccccaaga atttacaatt gttgcttttg
     6301 taaagtatga taaaaaccaa gatgttcact ccattaacct cccatttttt gagaccttgc
     6361 aagaatattt tgagaggaat cgacaaacca ttatagttgt actggaaaac gtacagagaa
     6421 acctgaagca catcaatatt gatcaatttg taagaaaata cagagcagcc ctgggaaaac
     6481 tcccacagca agctaatgat tatctgaatt cattcaattg ggagagacaa gtttcacatg
     6541 ccaaggagaa actgactgct ctcacaaaaa agtatagaat tacagaaaat gatatacaaa
     6601 ttgcattaga tgatgccaaa atcaacttta atgaaaaact atctcaactg cagacatata
     6661 tgatacaatt tgatcagtat attaaagata gttatgattt acatgatttg aaaatagcta
     6721 ttgctaatat tattgatgaa atcattgaaa aattaaaaag tcttgatgag cactatcata
     6781 tccgtgtaaa tttagtaaaa acaatccatg atctacattt gtttattgaa aatattgatt
     6841 ttaacaaaag tggaagtagt actgcatcct ggattcaaaa tgtggatact aagtaccaaa
     6901 tcagaatcca gatacaagaa aaactgcagc agcttaagag acacatacag aatatagaca
     6961 tccagcacct agctggaaag ttaaaacaac acattgaggc tattgatgtt agagtgcttt
     7021 tagatcaatt gggaactaca atttcatttg aaagaataaa tgacattctt gagcatgtca
     7081 aacactttgt tataaatctt attggggatt ttgaagtagc tgagaaaatc aatgccttca
     7141 gagccaaagt ccatgagtta atcgagaggt atgaagtaga ccaacaaatc caggttttaa
     7201 tggataaatt agtagagttg gcccaccaat acaagttgaa ggagactatt cagaagctaa
     7261 gcaatgtcct acaacaagtt aagataaaag attactttga gaaattggtt ggatttattg
     7321 atgatgctgt caagaagctt aatgaattat cttttaaaac attcattgaa gatgttaaca
     7381 aattccttga catgttgata aagaaattaa agtcatttga ttaccaccag tttgtagatg
     7441 aaaccaatga caaaatccgt gaggtgactc agagactcaa tggtgaaatt caggctctgg
     7501 aactaccaca aaaagctgaa gcattaaaac tgtttttaga ggaaaccaag gccacagttg
     7561 cagtgtatct ggaaagccta caggacacca aaataacctt aatcatcaat tggttacagg
     7621 aggctttaag ttcagcatct ttggctcaca tgaaggccaa attccgagag accctagaag
     7681 atacacgaga ccgaatgtat caaatggaca ttcagcagga acttcaacga tacctgtctc
     7741 tggtaggcca ggtttatagc acacttgtca cctacatttc tgattggtgg actcttgctg
     7801 ctaagaacct tactgacttt gcagagcaat attctatcca agattgggct aaacgtatga
     7861 aagcattggt agagcaaggg ttcactgttc ctgaaatcaa gaccatcctt gggaccatgc
     7921 ctgcctttga agtcagtctt caggctcttc agaaagctac cttccagaca cctgatttta
     7981 tagtccccct aacagatttg aggattccat cagttcagat aaacttcaaa gacttaaaaa
     8041 atataaaaat cccatccagg ttttccacac cagaatttac catccttaac accttccaca
     8101 ttccttcctt tacaattgac tttgtagaaa tgaaagtaaa gatcatcaga accattgacc
     8161 agatgctgaa cagtgagctg cagtggcccg ttccagatat atatctcagg gatctgaagg
     8221 tggaggacat tcctctagcg agaatcaccc tgccagactt ccgtttacca gaaatcgcaa
     8281 ttccagaatt cataatccca actctcaacc ttaatgattt tcaagttcct gaccttcaca
     8341 taccagaatt ccagcttccc cacatctcac acacaattga agtacctact tttggcaagc
     8401 tatacagtat tctgaaaatc caatctcctc ttttcacatt agatgcaaat gctgacatag
     8461 ggaatggaac cacctcagca aacgaagcag gtatcgcagc ttccatcact gccaaaggag
     8521 agtccaaatt agaagttctc aattttgatt ttcaagcaaa tgcacaactc tcaaacccta
     8581 agattaatcc gctggctctg aaggagtcag tgaagttctc cagcaagtac ctgagaacgg
     8641 agcatgggag tgaaatgctg ttttttggaa atgctattga gggaaaatca aacacagtgg
     8701 caagtttaca cacagaaaaa aatacactgg agcttagtaa tggagtgatt gtcaagataa
     8761 acaatcagct taccctggat agcaacacta aatacttcca caaattgaac atccccaaac
     8821 tggacttctc tagtcaggct gacctgcgca acgagatcaa gacactgttg aaagctggcc
     8881 acatagcatg gacttcttct ggaaaagggt catggaaatg ggcctgcccc agattctcag
     8941 atgagggaac acatgaatca caaattagtt tcaccataga aggacccctc acttcctttg
     9001 gactgtccaa taagatcaat agcaaacacc taagagtaaa ccaaaacttg gtttatgaat
     9061 ctggctccct caacttttct aaacttgaaa ttcaatcaca agtcgattcc cagcatgtgg
     9121 gccacagtgt tctaactgct aaaggcatgg cactgtttgg agaagggaag gcagagttta
     9181 ctgggaggca tgatgctcat ttaaatggaa aggttattgg aactttgaaa aattctcttt
     9241 tcttttcagc ccagccattt gagatcacgg catccacaaa caatgaaggg aatttgaaag
     9301 ttcgttttcc attaaggtta acagggaaga tagacttcct gaataactat gcactgtttc
     9361 tgagtcccag tgcccagcaa gcaagttggc aagtaagtgc taggttcaat cagtataagt
     9421 acaaccaaaa tttctctgct ggaaacaacg agaacattat ggaggcccat gtaggaataa
     9481 atggagaagc aaatctggat ttcttaaaca ttcctttaac aattcctgaa atgcgtctac
     9541 cttacacaat aatcacaact cctccactga aagatttctc tctatgggaa aaaacaggct
     9601 tgaaggaatt cttgaaaacg acaaagcaat catttgattt aagtgtaaaa gctcagtata
     9661 agaaaaacaa acacaggcat tccatcacaa atcctttggc tgtgctttgt gagtttatca
     9721 gtcagagcat caaatccttt gacaggcatt ttgaaaaaaa cagaaacaat gcattagatt
     9781 ttgtcaccaa atcctataat gaaacaaaaa ttaagtttga taagtacaaa gctgaaaaat
     9841 ctcacgacga gctccccagg acctttcaaa ttcctggata cactgttcca gttgtcaatg
     9901 ttgaagtgtc tccattcacc atagagatgt cggcattcgg ctatgtgttc ccaaaagcag
     9961 tcagcatgcc tagtttctcc atcctaggtt ctgacgtccg tgtgccttca tacacattaa
    10021 tcctgccatc attagagctg ccagtccttc atgtccctag aaatctcaag ctttctcttc
    10081 cagatttcaa ggaattgtgt accataagcc atatttttat tcctgccatg ggcaatatta
    10141 cctatgattt ctcctttaaa tcaagtgtca tcacactgaa taccaatgct gaacttttta
    10201 accagtcaga tattgttgct catctccttt cttcatcttc atctgtcatt gatgcactgc
    10261 agtacaaatt agagggcacc acaagattga caagaaaaag gggattgaag ttagccacag
    10321 ctctgtctct gagcaacaaa tttgtggagg gtagtcataa cagtactgtg agcttaacca
    10381 cgaaaaatat ggaagtgtca gtggcaacaa ccacaaaagc ccaaattcca attttgagaa
    10441 tgaatttcaa gcaagaactt aatggaaata ccaagtcaaa acctactgtc tcttcctcca
    10501 tggaatttaa gtatgatttc aattcttcaa tgctgtactc taccgctaaa ggagcagttg
    10561 accacaagct tagcttggaa agcctcacct cttacttttc cattgagtca tctaccaaag
    10621 gagatgtcaa gggttcggtt ctttctcggg aatattcagg aactattgct agtgaggcca
    10681 acacttactt gaattccaag agcacacggt cttcagtgaa gctgcagggc acttccaaaa
    10741 ttgatgatat ctggaacctt gaagtaaaag aaaattttgc tggagaagcc acactccaac
    10801 gcatatattc cctctgggag cacagtacga aaaaccactt acagctagag ggcctctttt
    10861 tcaccaacgg agaacataca agcaaagcca ccctggaact ctctccatgg caaatgtcag
    10921 ctcttgttca ggtccatgca agtcagccca gttccttcca tgatttccct gaccttggcc
    10981 aggaagtggc cctgaatgct aacactaaga accagaagat cagatggaaa aatgaagtcc
    11041 ggattcattc tgggtctttc cagagccagg tcgagctttc caatgaccaa gaaaaggcac
    11101 accttgacat tgcaggatcc ttagaaggac acctaaggtt cctcaaaaat atcatcctac
    11161 cagtctatga caagagctta tgggatttcc taaagctgga tgtaaccacc agcattggta
    11221 ggagacagca tcttcgtgtt tcaactgcct ttgtgtacac caaaaacccc aatggctatt
    11281 cattctccat ccctgtaaaa gttttggctg ataaattcat tattcctggg ctgaaactaa
    11341 atgatctaaa ttcagttctt gtcatgccta cgttccatgt cccatttaca gatcttcagg
    11401 ttccatcgtg caaacttgac ttcagagaaa tacaaatcta taagaagctg agaacttcat
    11461 catttgccct caacctacca acactccccg aggtaaaatt ccctgaagtt gatgtgttaa
    11521 caaaatattc tcaaccagaa gactccttga ttcccttttt tgagataacc gtgcctgaat
    11581 ctcagttaac tgtgtcccag ttcacgcttc caaaaagtgt ttcagatggc attgctgctt
    11641 tggatctaaa tgcagtagcc aacaagatcg cagactttga gttgcccacc atcatcgtgc
    11701 ctgagcagac cattgagatt ccctccatta agttctctgt acctgctgga attgtcattc
    11761 cttcctttca agcactgact gcacgctttg aggtagactc tcccgtgtat aatgccactt
    11821 ggagtgccag tttgaaaaac aaagcagatt atgttgaaac agtcctggat tccacatgca
    11881 gctcaaccgt acagttccta gaatatgaac taaatgtttt gggaacacac aaaatcgaag
    11941 atggtacgtt agcctctaag actaaaggaa catttgcaca ccgtgacttc agtgcagaat
    12001 atgaagaaga tggcaaatat gaaggacttc aggaatggga aggaaaagcg cacctcaata
    12061 tcaaaagccc agcgttcacc gatctccatc tgcgctacca gaaagacaag aaaggcatct
    12121 ccacctcagc agcctcccca gccgtaggca ccgtgggcat ggatatggat gaagatgacg
    12181 acttttctaa atggaacttc tactacagcc ctcagtcctc tccagataaa aaactcacca
    12241 tattcaaaac tgagttgagg gtccgggaat ctgatgagga aactcagatc aaagttaatt
    12301 gggaagaaga ggcagcttct ggcttgctaa cctctctgaa agacaacgtg cccaaggcca
    12361 caggggtcct ttatgattat gtcaacaagt accactggga acacacaggg ctcaccctga
    12421 gagaagtgtc ttcaaagctg agaagaaatc tgcagaacaa tgctgagtgg gtttatcaag
    12481 gggccattag gcaaattgat gatatcgacg tgaggttcca gaaagcagcc agtggcacca
    12541 ctgggaccta ccaagagtgg aaggacaagg cccagaatct gtaccaggaa ctgttgactc
    12601 aggaaggcca agccagtttc cagggactca aggataacgt gtttgatggc ttggtacgag
    12661 ttactcaaga attccatatg aaagtcaagc atctgattga ctcactcatt gattttctga
    12721 acttccccag attccagttt ccggggaaac ctgggatata cactagggag gaactttgca
    12781 ctatgttcat aagggaggta gggacggtac tgtcccaggt atattcgaaa gtccataatg
    12841 gttcagaaat actgttttcc tatttccaag acctagtgat tacacttcct ttcgagttaa
    12901 ggaaacataa actaatagat gtaatctcga tgtataggga actgttgaaa gatttatcaa
    12961 aagaagccca agaggtattt aaagccattc agtctctcaa gaccacagag gtgctacgta
    13021 atcttcagga ccttttacaa ttcattttcc aactaataga agataacatt aaacagctga
    13081 aagagatgaa atttacttat cttattaatt atatccaaga tgagatcaac acaatcttca
    13141 gtgattatat cccatatgtt tttaaattgt tgaaagaaaa cctatgcctt aatcttcata
    13201 agttcaatga atttattcaa aacgagcttc aggaagcttc tcaagagtta cagcagatcc
    13261 atcaatacat tatggccctt cgtgaagaat attttgatcc aagtatagtt ggctggacag
    13321 tgaaatatta tgaacttgaa gaaaagatag tcagtctgat caagaacctg ttagttgctc
    13381 ttaaggactt ccattctgaa tatattgtca gtgcctctaa ctttacttcc caactctcaa
    13441 gtcaagttga gcaatttctg cacagaaata ttcaggaata tcttagcatc cttaccgatc
    13501 cagatggaaa agggaaagag aagattgcag agctttctgc cactgctcag gaaataatta
    13561 aaagccaggc cattgcgacg aagaaaataa tttctgatta ccaccagcag tttagatata
    13621 aactgcaaga tttttcagac caactctctg attactatga aaaatttatt gctgaatcca
    13681 aaagattgat tgacctgtcc attcaaaact accacacatt tctgatatac atcacggagt
    13741 tactgaaaaa gctgcaatca accacagtca tgaaccccta catgaagctt gctccaggag
    13801 aacttactat catcctctaa ttttttaaaa gaaatcttca tttattcttc ttttccaatt
    13861 gaactttcac atagcacaga aaaaattcaa actgcctata ttgataaaac catacagtga
    13921 gccagccttg cagtaggcag tagactataa gcagaagcac atatgaactg gacctgcacc
    13981 aaagctggca ccagggctcg gaaggtctct gaactcagaa ggatggcatt ttttgcaagt
    14041 taaagaaaat caggatctga gttattttgc taaacttggg ggaggaggaa caaataaatg
    14101 gagtctttat tgtgtatcat a
//
LOCUS       NM_000386               2307 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens bleomycin hydrolase (BLMH), mRNA.
ACCESSION   NM_000386
VERSION     NM_000386.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2307)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2307)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2307)
  AUTHORS   Riise R, Odqvist L, Mattsson J, Monkley S, Abdillahi SM, Tyrchan C,
            Muthas D and Yrlid LF.
  TITLE     Bleomycin hydrolase regulates the release of chemokines important
            for inflammation and wound healing by keratinocytes
  JOURNAL   Sci Rep 9 (1), 20407 (2019)
   PUBMED   31892708
  REMARK    GeneRIF: Bleomycin hydrolase regulates the release of chemokines
            important for inflammation and wound healing by keratinocytes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2307)
  AUTHORS   Wu H, Li L, Chen KM, Homolka D, Gos P, Fleury-Olela F, McCarthy AA
            and Pillai RS.
  TITLE     Decapping Enzyme NUDT12 Partners with BLMH for Cytoplasmic
            Surveillance of NAD-Capped RNAs
  JOURNAL   Cell Rep 29 (13), 4422-4434 (2019)
   PUBMED   31875550
  REMARK    GeneRIF: Decapping Enzyme NUDT12 Partners with BLMH for Cytoplasmic
            Surveillance of NAD-Capped RNAs.
REFERENCE   5  (bases 1 to 2307)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2307)
  AUTHORS   Koldamova RP, Lefterov IM, Gadjeva VG and Lazo JS.
  TITLE     Essential binding and functional domains of human bleomycin
            hydrolase
  JOURNAL   Biochemistry 37 (8), 2282-2290 (1998)
   PUBMED   9485374
REFERENCE   7  (bases 1 to 2307)
  AUTHORS   Ferrando AA, Pendas AM, Llano E, Velasco G, Lidereau R and
            Lopez-Otin C.
  TITLE     Gene characterization, promoter analysis, and chromosomal
            localization of human bleomycin hydrolase
  JOURNAL   J Biol Chem 272 (52), 33298-33304 (1997)
   PUBMED   9407121
REFERENCE   8  (bases 1 to 2307)
  AUTHORS   Montoya SE, Ferrell RE and Lazo JS.
  TITLE     Genomic structure and genetic mapping of the human neutral cysteine
            protease bleomycin hydrolase
  JOURNAL   Cancer Res 57 (19), 4191-4195 (1997)
   PUBMED   9331073
REFERENCE   9  (bases 1 to 2307)
  AUTHORS   Bromme D, Rossi AB, Smeekens SP, Anderson DC and Payan DG.
  TITLE     Human bleomycin hydrolase: molecular cloning, sequencing, functional
            expression, and enzymatic characterization
  JOURNAL   Biochemistry 35 (21), 6706-6714 (1996)
   PUBMED   8639621
REFERENCE   10  (bases 1 to 2307)
  AUTHORS   Ferrando AA, Velasco G, Campo E and Lopez-Otin C.
  TITLE     Cloning and expression analysis of human bleomycin hydrolase, a
            cysteine proteinase involved in chemotherapy resistance
  JOURNAL   Cancer Res 56 (8), 1746-1750 (1996)
   PUBMED   8620487
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.224542.1,
            SRR1163658.220035.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000261714.11/ ENSP00000261714.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC346179.1 and BC003616.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000386.3.
            Summary: Bleomycin hydrolase (BMH) is a cytoplasmic cysteine
            peptidase that is highly conserved through evolution; however, the
            only known activity of the enzyme is metabolic inactivation of the
            glycopeptide bleomycin (BLM), an essential component of combination
            chemotherapy regimens for cancer. The protein contains the
            signature active site residues of the cysteine protease papain
            superfamily. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2307
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..2307
                     /gene="BLMH"
                     /gene_synonym="BH; BMH"
                     /note="bleomycin hydrolase"
                     /db_xref="GeneID:642"
                     /db_xref="HGNC:HGNC:1059"
                     /db_xref="MIM:602403"
     CDS             126..1493
                     /gene="BLMH"
                     /gene_synonym="BH; BMH"
                     /EC_number="3.4.22.40"
                     /note="BLM hydrolase"
                     /codon_start=1
                     /product="bleomycin hydrolase"
                     /protein_id="NP_000377.1"
                     /db_xref="CCDS:CCDS32604.1"
                     /db_xref="GeneID:642"
                     /db_xref="HGNC:HGNC:1059"
                     /db_xref="MIM:602403"
                     /translation="MSSSGLNSEKVAALIQKLNSDPQFVLAQNVGTTHDLLDICLKRAT
                     VQRAQHVFQHAVPQEGKPITNQKSSGRCWIFSCLNVMRLPFMKKLNIEEFEFSQSYLFF
                     WDKVERCYFFLSAFVDTAQRKEPEDGRLVQFLLMNPANDGGQWDMLVNIVEKYGVIPKK
                     CFPESYTTEATRRMNDILNHKMREFCIRLRNLVHSGATKGEISATQDVMMEEIFRVVCI
                     CLGNPPETFTWEYRDKDKNYQKIGPITPLEFYREHVKPLFNMEDKICLVNDPRPQHKYN
                     KLYTVEYLSNMVGGRKTLYNNQPIDFLKKMVAASIKDGEAVWFGCDVGKHFNSKLGLSD
                     MNLYDHELVFGVSLKNMNKAERLTFGESLMTHAMTFTAVSEKDDQDGAFTKWRVENSWG
                     EDHGHKGYLCMTDEWFSEYVYEVVVDRKHVPEEVLAVLEQEPIILPAWDPMGALAE"
     misc_feature    126..128
                     /gene="BLMH"
                     /gene_synonym="BH; BMH"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000250|UniProtKB:P70645; propagated from
                     UniProtKB/Swiss-Prot (Q13867.1); acetylation site"
     misc_feature    1296..1298
                     /gene="BLMH"
                     /gene_synonym="BH; BMH"
                     /note="N6-acetyllysine; acetylation site"
     regulatory      2284..2289
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLMH"
                     /gene_synonym="BH; BMH"
                     /note="hexamer: AATAAA"
     polyA_site      2307
                     /gene="BLMH"
                     /gene_synonym="BH; BMH"
                     /note="major polyA site"
ORIGIN
        1 ctttttccgg cgctccgggt gcgagagaca ggtcgggccc cctaggcagc gagccgcagc
       61 gcaatcccgg cgctcgccca aggaccctgg aagctaccgt taccccgccg ggcagcgtgg
      121 gcgccatgag cagctcggga ctgaattcgg agaaggtagc tgctctgata cagaaactga
      181 attccgaccc ccagttcgta cttgcccaga atgtcgggac cacccacgac ctgctggaca
      241 tctgtctgaa gcgggccacg gtgcagcgcg cgcagcatgt gttccagcac gccgtgcccc
      301 aggagggcaa gccaatcacc aaccagaaga gctcagggcg atgctggatc ttttcttgtc
      361 tgaatgttat gaggcttcca ttcatgaaaa agttaaatat tgaagaattt gagtttagcc
      421 aatcttacct gtttttttgg gacaaggttg aacgctgtta tttcttcttg agtgcttttg
      481 tggacacagc ccagagaaag gagcctgagg atgggaggct ggtgcagttt ttgcttatga
      541 accctgcaaa tgatggtggc caatgggata tgcttgttaa tattgttgaa aaatatggtg
      601 ttatccctaa gaaatgcttc cctgaatctt atacaacaga ggcaaccaga aggatgaatg
      661 atattctgaa tcacaagatg agagaattct gtatacgact gcggaacctg gtacacagtg
      721 gagcaaccaa aggagaaatc tcggccacac aggacgtcat gatggaggag atattccgag
      781 tggtgtgcat ctgtttgggt aatccaccag agacattcac ctgggaatat cgagacaaag
      841 ataaaaatta tcagaaaatt ggccccataa cacccttgga gttttacagg gaacatgtca
      901 agccactctt caatatggaa gataagattt gtttagtgaa tgaccctagg ccccagcaca
      961 agtacaacaa actttacaca gtggaatact taagcaatat ggttggaggg agaaaaactc
     1021 tatacaacaa ccagcccatt gacttcctga aaaagatggt tgctgcctcc atcaaagatg
     1081 gagaggctgt gtggtttggc tgtgatgttg gaaaacactt caatagcaag ctgggcctca
     1141 gtgacatgaa tctctatgac catgagttag tgtttggtgt ctccttgaag aacatgaata
     1201 aagcggagag gctgactttt ggtgagtcac ttatgaccca cgccatgacc ttcactgctg
     1261 tctcagagaa ggatgatcag gatggtgctt tcacaaaatg gagagtggag aattcatggg
     1321 gtgaagacca tggccacaaa ggttacctgt gcatgacaga tgagtggttc tctgagtatg
     1381 tctacgaagt ggtggtggac aggaagcatg tccctgaaga ggtgctagct gtgttagagc
     1441 aggaacccat tatcctgcca gcatgggacc ccatgggagc tttggctgag tgatactgcc
     1501 ctccagctct ttcctccttc catggaacct gacgtagctg caaaggacag atccagggac
     1561 tgaagccaaa gttatgcaag ggactgtgtg ttgccacagg acacagtcag atttccagtc
     1621 tccaccagga acctcttcag aaagtgtgct ttatgctgaa acagaatact gttaaaggaa
     1681 aaaaaagagg ggggaagatc aggtcatact atctactctc ctcatctcta acagctcagg
     1741 atctcttagc attttaatta gatgtaattg tttgtcttta actgtcaaaa agtttggttc
     1801 tgtgtctgtg ttttaataag acgagaggac gagcgattga ggtgtatgga gagaaaacag
     1861 acctaatgct ccttgttcct agagtagagt ggagggaggg tggcctaaga gttgagctct
     1921 cggaactgca tgctgctgga cagtatcact gtctttccta gatggcagtc actgaattcc
     1981 attttttcaa ggtaatttct tgtgcctcta atagcccaag aatgggaggt tgatcagatc
     2041 tgacatgatt ccttcctgtt ctgaactgtg gggtgtgcac atctctgctt gagtcaggtt
     2101 tgagtagagg cttagagaca gttgggtgag aacaaccaaa atcttatcat ggtctcagtc
     2161 ataatcatta gggggaactc tagccaaatg gtttaacttc tgcctgtgga actggggatt
     2221 gggtgggcag gaaaaggtga tatccattct ttctgataac tagatggtgc tgagaagctt
     2281 ttgaataaaa actttgctaa atgagaa
//
LOCUS       NM_000387               1778 bp    mRNA    linear   PRI 13-JUL-2023
DEFINITION  Homo sapiens solute carrier family 25 member 20 (SLC25A20), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_000387
VERSION     NM_000387.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1778)
  AUTHORS   Giangregorio N, Tonazzi A, Console L, Scalise M and Indiveri C.
  TITLE     Inhibition of the Mitochondrial Carnitine/Acylcarnitine Carrier by
            Itaconate through Irreversible Binding to Cysteine 136: Possible
            Pathophysiological Implications
  JOURNAL   Biomolecules 13 (6), 993 (2023)
   PUBMED   37371573
  REMARK    GeneRIF: Inhibition of the Mitochondrial Carnitine/Acylcarnitine
            Carrier by Itaconate through Irreversible Binding to Cysteine 136:
            Possible Pathophysiological Implications. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 1778)
  AUTHORS   Habib A, Azize NAA, Rahman SA, Yakob Y, Suberamaniam V, Nazri MIBA,
            Abdullah Sani H, Ch'ng GS, Yin LH, Olpin S and Lock-Hock N.
  TITLE     Novel mutations associated with carnitine-acylcarnitine translocase
            and carnitine palmitoyl transferase 2 deficiencies in Malaysia
  JOURNAL   Clin Biochem 98, 48-53 (2021)
   PUBMED   34626609
  REMARK    GeneRIF: Novel mutations associated with carnitine-acylcarnitine
            translocase and carnitine palmitoyl transferase 2 deficiencies in
            Malaysia.
REFERENCE   3  (bases 1 to 1778)
  AUTHORS   Gurbuz BB, Yilmaz DY, Ozgul RK, Kosukcu C, Dursun A, Sivri HS,
            Coskun T and Tokatli A.
  TITLE     Clinical and molecular characteristics of carnitineacylcarnitine
            translocase deficiency with c.270delC and a novel c.408C>A variant
  JOURNAL   Turk J Pediatr 63 (4), 691-696 (2021)
   PUBMED   34449152
  REMARK    GeneRIF: Clinical and molecular characteristics of
            carnitineacylcarnitine translocase deficiency with c.270delC and a
            novel c.408C>A variant.
REFERENCE   4  (bases 1 to 1778)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1778)
  AUTHORS   Yan HM, Hu H, Ahmed A, Feng BB, Liu J, Jia ZJ and Wang H.
  TITLE     Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and
            novel c.1A>G mutation: Two case reports and brief literature review
  JOURNAL   Medicine (Baltimore) 96 (45), e8549 (2017)
   PUBMED   29137068
  REMARK    GeneRIF: we report the first 2 cases of CACTD identified from the
            mainland China. Apart from a founder mutation c.199-10T>G, we have
            identified a novel c.1A>G mutation. Patients with
            Carnitine-acylcarnitine translocase deficiency with a genotype of
            c.199-10T>G mutation usually presents with a severe clinical
            phenotype. Early recognition and appropriate treatment is crucial in
            this highly lethal disorder. Review article
REFERENCE   6  (bases 1 to 1778)
  AUTHORS   Huizing M, Wendel U, Ruitenbeek W, Iacobazzi V, IJlst L, Veenhuizen
            P, Savelkoul P, van den Heuvel LP, Smeitink JA, Wanders RJ, Trijbels
            JM and Palmieri F.
  TITLE     Carnitine-acylcarnitine carrier deficiency: identification of the
            molecular defect in a patient
  JOURNAL   J Inherit Metab Dis 21 (3), 262-267 (1998)
   PUBMED   9686371
REFERENCE   7  (bases 1 to 1778)
  AUTHORS   Huizing M, Iacobazzi V, Ijlst L, Savelkoul P, Ruitenbeek W, van den
            Heuvel L, Indiveri C, Smeitink J, Trijbels F, Wanders R and Palmieri
            F.
  TITLE     Cloning of the human carnitine-acylcarnitine carrier cDNA and
            identification of the molecular defect in a patient
  JOURNAL   Am J Hum Genet 61 (6), 1239-1245 (1997)
   PUBMED   9399886
REFERENCE   8  (bases 1 to 1778)
  AUTHORS   Viggiano L, Iacobazzi V, Marzella R, Cassano C, Rocchi M and
            Palmieri F.
  TITLE     Assignment of the carnitine/acylcarnitine translocase gene (CACT) to
            human chromosome band 3p21.31 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 79 (1-2), 62-63 (1997)
   PUBMED   9533014
REFERENCE   9  (bases 1 to 1778)
  AUTHORS   Morales Corado,J.A., Lee,C.U. and Enns,G.M.
  TITLE     Carnitine-Acylcarnitine Translocase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   35862567
REFERENCE   10  (bases 1 to 1778)
  AUTHORS   Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J and Bonnefont JP.
  TITLE     Brief report: a deficiency of carnitine-acylcarnitine translocase in
            the inner mitochondrial membrane
  JOURNAL   N Engl J Med 327 (1), 19-23 (1992)
   PUBMED   1598097
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.636810.1,
            SRR3476690.258896.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000319017.5/ ENSP00000326305.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC360427.1, BC001689.2 and
            BQ018220.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000387.5.
            Summary: This gene product is one of several closely related
            mitochondrial-membrane carrier proteins that shuttle substrates
            between cytosol and the intramitochondrial matrix space. This
            protein mediates the transport of acylcarnitines into mitochondrial
            matrix for their oxidation by the mitochondrial fatty
            acid-oxidation pathway. Mutations in this gene are associated with
            carnitine-acylcarnitine translocase deficiency, which can cause a
            variety of pathological conditions such as hypoglycemia, cardiac
            arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and
            is usually lethal in new born and infants. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1778
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1778
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="solute carrier family 25 member 20"
                     /db_xref="GeneID:788"
                     /db_xref="HGNC:HGNC:1421"
                     /db_xref="MIM:613698"
     misc_feature    35..37
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="upstream in-frame stop codon"
     CDS             89..994
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /EC_number="2.7.11.1"
                     /note="solute carrier family 25 (carnitine/acylcarnitine
                     translocase), member 20"
                     /codon_start=1
                     /product="mitochondrial carnitine/acylcarnitine carrier
                     protein"
                     /protein_id="NP_000378.1"
                     /db_xref="CCDS:CCDS2779.1"
                     /db_xref="GeneID:788"
                     /db_xref="HGNC:HGNC:1421"
                     /db_xref="MIM:613698"
                     /translation="MADQPKPISPLKNLLAGGFGGVCLVFVGHPLDTVKVRLQTQPPSL
                     PGQPPMYSGTFDCFRKTLFREGITGLYRGMAAPIIGVTPMFAVCFFGFGLGKKLQQKHP
                     EDVLSYPQLFAAGMLSGVFTTGIMTPGERIKCLLQIQASSGESKYTGTLDCAKKLYQEF
                     GIRGIYKGTVLTLMRDVPASGMYFMTYEWLKNIFTPEGKRVSELSAPRILVAGGIAGIF
                     NWAVAIPPDVLKSRFQTAPPGKYPNGFRDVLRELIRDEGVTSLYKGFNAVMIRAFPANA
                     ACFLGFEVAMKFLNWATPNL"
     misc_feature    92..94
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (O43772.1); acetylation site"
     misc_feature    110..385
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1);
                     Region: Solcar 1"
     misc_feature    125..181
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1);
                     transmembrane region"
     misc_feature    308..367
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1);
                     transmembrane region"
     misc_feature    410..676
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1);
                     Region: Solcar 2"
     misc_feature    425..481
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1);
                     transmembrane region"
     misc_feature    530..532
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z2Z6; propagated from
                     UniProtKB/Swiss-Prot (O43772.1); acetylation site"
     misc_feature    557..559
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z2Z6; propagated from
                     UniProtKB/Swiss-Prot (O43772.1); acetylation site"
     misc_feature    596..598
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q9Z2Z6; propagated from
                     UniProtKB/Swiss-Prot (O43772.1); acetylation site"
     misc_feature    599..658
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1);
                     transmembrane region"
     misc_feature    707..967
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1);
                     Region: Solcar 3"
     misc_feature    722..778
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1);
                     transmembrane region"
     misc_feature    890..949
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="propagated from UniProtKB/Swiss-Prot (O43772.1);
                     transmembrane region"
     regulatory      1756..1761
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="hexamer: AATAAA"
     polyA_site      1778
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="major polyA site"
ORIGIN
        1 gaaaggtcgg cggcgccggc actgcagctg gggctgagaa gccaggacgg cccgagaact
       61 gacagacgga gtgacagacg gactgaccat ggccgaccag ccaaaaccca tcagcccgct
      121 caagaacctg ctggccggcg gctttggcgg cgtgtgcctg gtgttcgtcg gtcaccctct
      181 ggacacggtc aaggtccgac tgcagacaca gccaccgagt ttgcctggac aacctcccat
      241 gtactctggg acctttgact gtttccggaa gactcttttt agagagggca tcacggggct
      301 atatcgggga atggctgccc ctatcatcgg ggtcactccc atgtttgccg tgtgcttctt
      361 tgggtttggt ttggggaaga aactacaaca gaaacaccca gaagatgtgc tcagctatcc
      421 ccagcttttt gcagctggga tgttatctgg cgtattcacc acaggaatca tgactcctgg
      481 agaacggatc aagtgcttat tacagattca ggcttcttca ggagaaagca agtacactgg
      541 taccttggac tgtgcaaaga agctgtacca ggagtttggg atccgaggca tctacaaagg
      601 gactgtgctt acccttatgc gagatgtccc agctagtgga atgtatttca tgacatatga
      661 atggctgaaa aatatcttca ctccggaggg aaagagggtc agtgagctca gtgcccctcg
      721 gatcttggtg gctgggggca ttgcagggat cttcaactgg gctgtggcaa tccccccaga
      781 tgtgctcaag tctcgattcc agactgcacc tcctgggaaa tatcctaatg gtttcagaga
      841 tgtgctgagg gagctgatcc gggatgaagg agtcacatcc ttgtacaaag ggttcaatgc
      901 agtgatgatc cgagccttcc cagccaatgc ggcctgtttc cttggctttg aagttgccat
      961 gaagttcctt aattgggcca cccccaactt gtgaggctga aggctgctca agttcacttc
     1021 tggatgctgg aagctgtcgt tgaggagaag gagtagtaag cagaactaag cagtcttgga
     1081 gggcaagggg aggggaatgg tgagatccga gccctgtgca tggacttggt gagactgttg
     1141 ccttaatgac atcctgcacc gtgtataact tagtgtgtca ttttgaaact tgaattcatt
     1201 cttatcaatt taagggatct taaaaggatt tggaaatgga acaagtagct tccagaccag
     1261 atactacctg tggcaagaat gctgcctacc agttaactgc tggtcctacc acagtcaaag
     1321 tattcctcat taaagagaga atctcaggtt ctcactggag gcactgtgca tattttcaac
     1381 cagatcacca ggagctgaga tcttcttcag tccctagcca ggaataccca tttgatttcc
     1441 agggtgccat ctaatcctgg gctgtacatg tggatatgga cttgaggccc acctctgtgt
     1501 ccaagtggat tgagcatata tgcctaggag gagatagact gttaatcgtt ggattttgat
     1561 tttttttttt tatgcctgca aataatcaaa agtaaaactg gagtagccta attttctggg
     1621 agcaggtgga gaactttccc tcctacacag tgaggacagt cccagtctgc tgggataagt
     1681 gagaaagccc agggtgtagg aaggcccttt ttacatactc ttttctcatg agagctcact
     1741 attttaacaa taaacaataa acgttgtttc taattttt
//
LOCUS       NM_000388              10062 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens calcium sensing receptor (CASR), transcript variant 2,
            mRNA.
ACCESSION   NM_000388
VERSION     NM_000388.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10062)
  AUTHORS   Liu L, Qian L, Li P, Li J, Huang S, Yi W, Liu S and Wu W.
  TITLE     [MiR-301a-5p modulates parathyroid hormone secretion in secondary
            hyperparathyroidism possibly by regulating calcium-sensing receptor]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 43 (8), 1363-1370 (2023)
   PUBMED   37712273
  REMARK    GeneRIF: [MiR-301a-5p modulates parathyroid hormone secretion in
            secondary hyperparathyroidism possibly by regulating calcium-sensing
            receptor].
REFERENCE   2  (bases 1 to 10062)
  AUTHORS   Xun Z, Wang Z, Du Y and Liu C.
  TITLE     [Clinical characteristics and genetic analysis of two children with
            neonatal severe hyperparathyroidism]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (8), 979-985 (2023)
   PUBMED   37532498
  REMARK    GeneRIF: [Clinical characteristics and genetic analysis of two
            children with neonatal severe hyperparathyroidism].
REFERENCE   3  (bases 1 to 10062)
  AUTHORS   Busic-Pavlek I, Dumic-Cule I, Kovacevic L, Milosevic M, Delimar P,
            Korsa L, Marusic Z and Prutki M.
  TITLE     Calcium-Sensing Receptor Expression in Breast Cancer
  JOURNAL   Int J Mol Sci 24 (14), 11678 (2023)
   PUBMED   37511437
  REMARK    GeneRIF: Calcium-Sensing Receptor Expression in Breast Cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 10062)
  AUTHORS   Rodrat M, Wongdee K, Chankamngoen W, Teerapornpuntakit J,
            Thongbunchoo J, Tanramluk D and Charoenphandhu N.
  TITLE     Modulation of fibroblast growth factor-23 expression and
            transepithelial calcium absorption in Caco-2 monolayer by
            calcium-sensing receptor and calcineurin under calcium
            hyperabsorptive state
  JOURNAL   Biochem Biophys Res Commun 659, 105-112 (2023)
   PUBMED   37060830
  REMARK    GeneRIF: Modulation of fibroblast growth factor-23 expression and
            transepithelial calcium absorption in Caco-2 monolayer by
            calcium-sensing receptor and calcineurin under calcium
            hyperabsorptive state.
REFERENCE   5  (bases 1 to 10062)
  AUTHORS   Sherman BE, Calderon E and Price RS.
  TITLE     Characterizing the Role of Calcium Sensing Receptor in the
            Progression of Obesity-Mediated Aggressive Prostate Cancer Phenotype
  JOURNAL   Nutr Cancer 75 (3), 960-970 (2023)
   PUBMED   36786422
  REMARK    GeneRIF: Characterizing the Role of Calcium Sensing Receptor in the
            Progression of Obesity-Mediated Aggressive Prostate Cancer
            Phenotype.
REFERENCE   6  (bases 1 to 10062)
  AUTHORS   Aida K, Koishi S, Tawata M and Onaya T.
  TITLE     Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from
            human kidney
  JOURNAL   Biochem Biophys Res Commun 214 (2), 524-529 (1995)
   PUBMED   7677761
REFERENCE   7  (bases 1 to 10062)
  AUTHORS   Aida K, Koishi S, Inoue M, Nakazato M, Tawata M and Onaya T.
  TITLE     Familial hypocalciuric hypercalcemia associated with mutation in the
            human Ca(2+)-sensing receptor gene
  JOURNAL   J Clin Endocrinol Metab 80 (9), 2594-2598 (1995)
   PUBMED   7673400
REFERENCE   8  (bases 1 to 10062)
  AUTHORS   Garrett JE, Capuano IV, Hammerland LG, Hung BC, Brown EM, Hebert SC,
            Nemeth EF and Fuller F.
  TITLE     Molecular cloning and functional expression of human parathyroid
            calcium receptor cDNAs
  JOURNAL   J Biol Chem 270 (21), 12919-12925 (1995)
   PUBMED   7759551
REFERENCE   9  (bases 1 to 10062)
  AUTHORS   Chou YH, Pollak MR, Brandi ML, Toss G, Arnqvist H, Atkinson AB,
            Papapoulos SE, Marx S, Brown EM, Seidman JG et al.
  TITLE     Mutations in the human Ca(2+)-sensing-receptor gene that cause
            familial hypocalciuric hypercalcemia
  JOURNAL   Am J Hum Genet 56 (5), 1075-1079 (1995)
   PUBMED   7726161
REFERENCE   10  (bases 1 to 10062)
  AUTHORS   Shelton,C., LaRusch,J. and Whitcomb,D.C.
  TITLE     Pancreatitis Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24624459
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: U20759.1, BC112236.1 [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000639785.2/ ENSP00000491584.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC068630.21, AC068754.16 and
            AC083798.14.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000388.3.
            Summary: The protein encoded by this gene is a plasma membrane G
            protein-coupled receptor that senses small changes in circulating
            calcium concentration. The encoded protein couples this information
            to intracellular signaling pathways that modify parathyroid hormone
            secretion or renal cation handling, and thus this protein plays an
            essential role in maintaining mineral ion homeostasis. Mutations in
            this gene are a cause of familial hypocalciuric hypercalcemia,
            neonatal severe hyperparathyroidism, and autosomal dominant
            hypocalcemia. [provided by RefSeq, Aug 2017].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..10062
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.33-q21.1"
     gene            1..10062
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="calcium sensing receptor"
                     /db_xref="GeneID:846"
                     /db_xref="HGNC:HGNC:1514"
                     /db_xref="MIM:601199"
     misc_feature    349..351
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="upstream in-frame stop codon"
     CDS             388..3624
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; parathyroid Ca(2+)-sensing receptor 1; extracellular
                     calcium-sensing receptor; parathyroid cell calcium-sensing
                     receptor 1"
                     /codon_start=1
                     /product="extracellular calcium-sensing receptor isoform 2
                     precursor"
                     /protein_id="NP_000379.3"
                     /db_xref="CCDS:CCDS3010.1"
                     /db_xref="GeneID:846"
                     /db_xref="HGNC:HGNC:1514"
                     /db_xref="MIM:601199"
                     /translation="MAFYSCCWVLLALTWHTSAYGPDQRAQKKGDIILGGLFPIHFGVA
                     AKDQDLKSRPESVECIRYNFRGFRWLQAMIFAIEEINSSPALLPNLTLGYRIFDTCNTV
                     SKALEATLSFVAQNKIDSLNLDEFCNCSEHIPSTIAVVGATGSGVSTAVANLLGLFYIP
                     QVSYASSSRLLSNKNQFKSFLRTIPNDEHQATAMADIIEYFRWNWVGTIAADDDYGRPG
                     IEKFREEAEERDICIDFSELISQYSDEEEIQHVVEVIQNSTAKVIVVFSSGPDLEPLIK
                     EIVRRNITGKIWLASEAWASSSLIAMPQYFHVVGGTIGFALKAGQIPGFREFLKKVHPR
                     KSVHNGFAKEFWEETFNCHLQEGAKGPLPVDTFLRGHEESGDRFSNSSTAFRPLCTGDE
                     NISSVETPYIDYTHLRISYNVYLAVYSIAHALQDIYTCLPGRGLFTNGSCADIKKVEAW
                     QVLKHLRHLNFTNNMGEQVTFDECGDLVGNYSIINWHLSPEDGSIVFKEVGYYNVYAKK
                     GERLFINEEKILWSGFSREVPFSNCSRDCLAGTRKGIIEGEPTCCFECVECPDGEYSDE
                     TDASACNKCPDDFWSNENHTSCIAKEIEFLSWTEPFGIALTLFAVLGIFLTAFVLGVFI
                     KFRNTPIVKATNRELSYLLLFSLLCCFSSSLFFIGEPQDWTCRLRQPAFGISFVLCISC
                     ILVKTNRVLLVFEAKIPTSFHRKWWGLNLQFLLVFLCTFMQIVICVIWLYTAPPSSYRN
                     QELEDEIIFITCHEGSLMALGFLIGYTCLLAAICFFFAFKSRKLPENFNEAKFITFSML
                     IFFIVWISFIPAYASTYGKFVSAVEVIAILAASFGLLACIFFNKIYIILFKPSRNTIEE
                     VRCSTAAHAFKVAARATLRRSNVSRKRSSSLGGSTGSTPSSSISSKSNSEDPFPQPERQ
                     KQQQPLALTQQEQQQQPLTLPQQQRSQQQPRCKQKVIFGSGTVTFSLSFDEPQKNAMAH
                     RNSTHQNSLEAQKSSDTLTRHEPLLPLQCGETDLDLTVQETGLQGPVGGDQRPEVEDPE
                     ELSPALVVSSSQSFVISGGGSTVTENVVNS"
     sig_peptide     388..444
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     445..3621
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /product="Extracellular calcium-sensing receptor.
                     /id=PRO_0000012946"
                     /note="propagated from UniProtKB/Swiss-Prot (P41180.3)"
     misc_feature    451..951
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P41180.3);
                     Region: Ligand-binding 1 (LB1).
                     /evidence=ECO:0000303|PubMed:17360426"
     misc_feature    655..657
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P41180.3); glycosylation site"
     misc_feature    775..777
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P41180.3); glycosylation site"
     misc_feature    952..1359
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P41180.3);
                     Region: Ligand-binding 2 (LB2).
                     /evidence=ECO:0000303|PubMed:17360426"
     misc_feature    1168..1170
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255, ECO:0000269|PubMed:27434672;
                     propagated from UniProtKB/Swiss-Prot (P41180.3);
                     glycosylation site"
     misc_feature    1246..1248
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255, ECO:0000269|PubMed:27434672;
                     propagated from UniProtKB/Swiss-Prot (P41180.3);
                     glycosylation site"
     misc_feature    1543..1545
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P41180.3); glycosylation site"
     misc_feature    1585..1587
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P41180.3); glycosylation site"
     misc_feature    1723..1725
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255, ECO:0000269|PubMed:27434672;
                     propagated from UniProtKB/Swiss-Prot (P41180.3);
                     glycosylation site"
     misc_feature    1789..1791
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255, ECO:0000269|PubMed:27434672;
                     propagated from UniProtKB/Swiss-Prot (P41180.3);
                     glycosylation site"
     misc_feature    1831..1833
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="Important for ability of agonist AMG 416 to activate
                     G-protein-coupled receptor activity.
                     /evidence=ECO:0000269|PubMed:26290606; propagated from
                     UniProtKB/Swiss-Prot (P41180.3); other site"
     misc_feature    1849..1851
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255, ECO:0000269|PubMed:27434672;
                     propagated from UniProtKB/Swiss-Prot (P41180.3);
                     glycosylation site"
     misc_feature    2008..2010
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255, ECO:0000269|PubMed:27434672;
                     propagated from UniProtKB/Swiss-Prot (P41180.3);
                     glycosylation site"
     misc_feature    2011..2223
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P41180.3);
                     Region: Cysteine-rich (CR).
                     /evidence=ECO:0000303|PubMed:17360426"
     misc_feature    2167..2169
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255, ECO:0000269|PubMed:27434672;
                     propagated from UniProtKB/Swiss-Prot (P41180.3);
                     glycosylation site"
     misc_feature    2224..2292
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P41180.3);
                     transmembrane region"
     misc_feature    2335..2397
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P41180.3);
                     transmembrane region"
     misc_feature    2431..2487
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P41180.3);
                     transmembrane region"
     misc_feature    2560..2622
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P41180.3);
                     transmembrane region"
     misc_feature    2695..2763
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P41180.3);
                     transmembrane region"
     misc_feature    2803..2871
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P41180.3);
                     transmembrane region"
     misc_feature    2896..2973
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P41180.3);
                     transmembrane region"
     misc_feature    3025..3087
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P41180.3);
                     Region: Interaction with RNF19A.
                     /evidence=ECO:0000269|PubMed:16513638"
     misc_feature    3061..3276
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P41180.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3145..3147
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QY96; propagated from
                     UniProtKB/Swiss-Prot (P41180.3); phosphorylation site"
     misc_feature    3343..3405
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P41180.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3475..3552
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P41180.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3568..3570
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QY96; propagated from
                     UniProtKB/Swiss-Prot (P41180.3); phosphorylation site"
     regulatory      4369..4374
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="hexamer: TATAAA"
     polyA_site      4387
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
     regulatory      4907..4912
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="hexamer: AATAAA"
     polyA_site      4927
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="major polyA site"
     regulatory      5241..5246
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="hexamer: ATTAAA"
     polyA_site      5263
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
     regulatory      7178..7183
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="hexamer: AATAAA"
     polyA_site      7200
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
     regulatory      8351..8356
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="hexamer: AATAAA"
     polyA_site      8367
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
     regulatory      8923..8928
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
                     /note="hexamer: AATATA"
     polyA_site      8945
                     /gene="CASR"
                     /gene_synonym="CAR; EIG8; FHH; FIH; GPRC2A; hCasR; HHC;
                     HHC1; HYPOC1; NSHPT; PCAR1"
ORIGIN
        1 agagtagacc aagtgcaaca ggcacctggc tgcagccagg aaggaccgca cgccctttcg
       61 cgcaggagag tggaaggagg gagctgtttg ccagcaccga ggtcttgcgg cacaggcaac
      121 gcttgacctg agtcttgcag aatgaaaggc atcacaggag gcctctgcat gatgtggctt
      181 ccaaagactc aaggaccacc cacattacaa gtctggattg aggaaggcag aaatggagat
      241 tcaaacacca cgtcttctat tattttatta atcaatctgt agacatgtgt ccccactgca
      301 gggagtgaac tgctccaagg gagaaacttc tgggagcctc caaactccta gctgtctcat
      361 cccttgccct ggagagacgg cagaaccatg gcattttata gctgctgctg ggtcctcttg
      421 gcactcacct ggcacacctc tgcctacggg ccagaccagc gagcccaaaa gaagggggac
      481 attatccttg gggggctctt tcctattcat tttggagtag cagctaaaga tcaagatctc
      541 aaatcaaggc cggagtctgt ggaatgtatc aggtataatt tccgtgggtt tcgctggtta
      601 caggctatga tatttgccat agaggagata aacagcagcc cagcccttct tcccaacttg
      661 acgctgggat acaggatatt tgacacttgc aacaccgttt ctaaggcctt ggaagccacc
      721 ctgagttttg ttgctcaaaa caaaattgat tctttgaacc ttgatgagtt ctgcaactgc
      781 tcagagcaca ttccctctac gattgctgtg gtgggagcaa ctggctcagg cgtctccacg
      841 gcagtggcaa atctgctggg gctcttctac attccccagg tcagttatgc ctcctccagc
      901 agactcctca gcaacaagaa tcaattcaag tctttcctcc gaaccatccc caatgatgag
      961 caccaggcca ctgccatggc agacatcatc gagtatttcc gctggaactg ggtgggcaca
     1021 attgcagctg atgacgacta tgggcggccg gggattgaga aattccgaga ggaagctgag
     1081 gaaagggata tctgcatcga cttcagtgaa ctcatctccc agtactctga tgaggaagag
     1141 atccagcatg tggtagaggt gattcaaaat tccacggcca aagtcatcgt ggttttctcc
     1201 agtggcccag atcttgagcc cctcatcaag gagattgtcc ggcgcaatat cacgggcaag
     1261 atctggctgg ccagcgaggc ctgggccagc tcctccctga tcgccatgcc tcagtacttc
     1321 cacgtggttg gcggcaccat tggattcgct ctgaaggctg ggcagatccc aggcttccgg
     1381 gaattcctga agaaggtcca tcccaggaag tctgtccaca atggttttgc caaggagttt
     1441 tgggaagaaa catttaactg ccacctccaa gaaggtgcaa aaggaccttt acctgtggac
     1501 acctttctga gaggtcacga agaaagtggc gacaggttta gcaacagctc gacagccttc
     1561 cgacccctct gtacagggga tgagaacatc agcagtgtcg agacccctta catagattac
     1621 acgcatttac ggatatccta caatgtgtac ttagcagtct actccattgc ccacgccttg
     1681 caagatatat atacctgctt acctgggaga gggctcttca ccaatggctc ctgtgcagac
     1741 atcaagaaag ttgaggcgtg gcaggtcctg aagcacctac ggcatctaaa ctttacaaac
     1801 aatatggggg agcaggtgac ctttgatgag tgtggtgacc tggtggggaa ctattccatc
     1861 atcaactggc acctctcccc agaggatggc tccatcgtgt ttaaggaagt cgggtattac
     1921 aacgtctatg ccaagaaggg agaaagactc ttcatcaacg aggagaaaat cctgtggagt
     1981 gggttctcca gggaggtgcc cttctccaac tgcagccgag actgcctggc agggaccagg
     2041 aaagggatca ttgaggggga gcccacctgc tgctttgagt gtgtggagtg tcctgatggg
     2101 gagtatagtg atgagacaga tgccagtgcc tgtaacaagt gcccagatga cttctggtcc
     2161 aatgagaacc acacctcctg cattgccaag gagatcgagt ttctgtcgtg gacggagccc
     2221 tttgggatcg cactcaccct ctttgccgtg ctgggcattt tcctgacagc ctttgtgctg
     2281 ggtgtgttta tcaagttccg caacacaccc attgtcaagg ccaccaaccg agagctctcc
     2341 tacctcctcc tcttctccct gctctgctgc ttctccagct ccctgttctt catcggggag
     2401 ccccaggact ggacgtgccg cctgcgccag ccggcctttg gcatcagctt cgtgctctgc
     2461 atctcatgca tcctggtgaa aaccaaccgt gtcctcctgg tgtttgaggc caagatcccc
     2521 accagcttcc accgcaagtg gtgggggctc aacctgcagt tcctgctggt tttcctctgc
     2581 accttcatgc agattgtcat ctgtgtgatc tggctctaca ccgcgccccc gtcaagctac
     2641 cgcaaccagg agctggagga tgagatcatc ttcatcacgt gccacgaggg ctccctcatg
     2701 gccctgggct tcctgatcgg ctacacctgc ctgctggctg ccatctgctt cttctttgcc
     2761 ttcaagtccc ggaagctgcc ggagaacttc aatgaagcca agttcatcac cttcagcatg
     2821 ctcatcttct tcatcgtctg gatctccttc attccagcct atgccagcac ctatggcaag
     2881 tttgtctctg ccgtagaggt gattgccatc ctggcagcca gctttggctt gctggcgtgc
     2941 atcttcttca acaagatcta catcattctc ttcaagccat cccgcaacac catcgaggag
     3001 gtgcgttgca gcaccgcagc tcacgctttc aaggtggctg cccgggccac gctgcgccgc
     3061 agcaacgtct cccgcaagcg gtccagcagc cttggaggct ccacgggatc caccccctcc
     3121 tcctccatca gcagcaagag caacagcgaa gacccattcc cacagcccga gaggcagaag
     3181 cagcagcagc cgctggccct aacccagcaa gagcagcagc agcagcccct gaccctccca
     3241 cagcagcaac gatctcagca gcagcccaga tgcaagcaga aggtcatctt tggcagcggc
     3301 acggtcacct tctcactgag ctttgatgag cctcagaaga acgccatggc ccacaggaat
     3361 tctacgcacc agaactccct ggaggcccag aaaagcagcg atacgctgac ccgacacgag
     3421 ccattactcc cgctgcagtg cggggaaacg gacttagatc tgaccgtcca ggaaacaggt
     3481 ctgcaaggac ctgtgggtgg agaccagcgg ccagaggtgg aggaccctga agagttgtcc
     3541 ccagcacttg tagtgtccag ttcacagagc tttgtcatca gtggtggagg cagcactgtt
     3601 acagaaaacg tagtgaattc ataaaatgga aggagaagac tgggctaggg agaatgcaga
     3661 gaggtttctt ggggtcccag ggaagaggaa tcgccccaga ctcctttcct ctgaggaaga
     3721 agggataata gacacatcaa atgccccgaa tttagtcaca ccatcttaaa tgacagtgaa
     3781 ttgacccatg ttccctttaa aattaaaaaa aagaagagcc ttgtgtttct gtggttgcat
     3841 ttgtcaaagc attgagatct ccacggtcag atttgctgtt cacccacatc taatgtctct
     3901 tcctctgttc tatcccaccc aacagctcag agatgaaact atggctttaa actaccctcc
     3961 agagtgtgca gactgatggg acatcaaatt tgccaccact agagctgaga gtctgaaaga
     4021 cagaatgtca ccagtcctgc ccaatgcctt gacaacagac tgaattttaa atgttcacaa
     4081 cataaggaga atgtatctcc tcctatttat gaaaaccata tgatattttg tctcctacct
     4141 gctgctgcta ttatgtaaca tccagaaggt ttgcacccct cctataccat atgtctgctt
     4201 ctgtccagga catgatactg atgccatgtt tagattccag gatcacaaga atcacctcaa
     4261 attgttagga agggactgca taaaccaatg agctgtatct gtaattaata ttcctatatg
     4321 tagctttatc cttaggaaaa tgcttctgtt gtaatagtcc atggacaata taaactgaaa
     4381 aatgtcagtc tggtttatat aaggcagtat tattgagctc tatttcccca ccccactatc
     4441 ctcactccca taagctaagc cttatgtgag ccccttcagg gactcaaggg tccagaagtc
     4501 cctcccatct ctaccccaaa gaattcctga agccagatcc accctatccc tgtacagagt
     4561 aagttctcaa ttattggcct gctaatagct gctagggtag gaaagcgtgg ttccaagaaa
     4621 gatccaccct caaatgtcag agctatgttc cctccagcag tggtattaat actgccggtc
     4681 acccaggctc tggagccaga gagacagacc ggggttcaag ccatggcttc gtcatttgca
     4741 agctgagtga ctgtaggcag ggaaccttaa cctctctaag ccacagcttc ttcatcttta
     4801 aaataaggat aataatcatt ctttcccctc agagctctta tgtggattaa acgagataat
     4861 gtatataaag tactttagcc tggtacctag cacacaataa gcattcaata aatattagtt
     4921 aatattatta ctgatactgt aataattatt ttttccctta cttcaaatac aaaacaaaac
     4981 atacatatta accattcaga ttgtactgcc tagcccactg atcacaatca ctctctctgt
     5041 aataagccca agagctctgg gcccaacaca tggggtcagc catagtatca ctggctcatg
     5101 gtgaggaagc cagaaagctg gtcagcccct caggtggccc aatgccctgt ctccgcagtg
     5161 tcagggcctg gacctccagc atccagggaa gaccatcacc agtctagcag gaggttctaa
     5221 gctgaggcca aaccattgca attaaatctc ctgaagcctc aaattttaca gctcttggtg
     5281 acttcttccc ctgaccactt tcttccaaag gggcgccttt cagtgatttg tagggcaaat
     5341 tggtggactt gatagttgtt aagattataa tgagaaatca ttagagggca ccatgtggga
     5401 gcgcgactgt gagcagaagg tggtgactca ggatgaccca agtgaggtgc ctgctcccca
     5461 cctaggaagg gcaccggccc ccacccagcc tgcgcccccc tgcagtcatg cctctgagca
     5521 aggcaccgag ctgagtgggg atttatattt aacattttac ttggtcttaa aagaaatgct
     5581 gaaaatgtga tggtttcaaa ataactatga gggaacagcc tcaacagaat gtgacatact
     5641 tctccctcca gggtttgact tcaatgtcca tgtcacccaa ggggctttag gaggaaaaca
     5701 taggtttaca gtgagctttt atttcaccaa gtgcttgcaa ataaggagtc tctcccaatg
     5761 ctgttgtcag aaaggcagat acagaaacac tgtcccaatt tatacgtagc aggcacaact
     5821 cagcacaaaa tcaggggtgt gaaatatgaa cttgcattgt ttttctacaa caacttaatt
     5881 tctatctcaa attcccctcc agcctagtga cagaaacttc atcttagtcg aatcggggtt
     5941 ttcacagtaa cctcagtgtt ttctgagcca atttagatgt ttggggatca attcagaggt
     6001 tgttccttct cccttccagg agggcttttg taatgttggg gtgggcctcc tcagtcatca
     6061 gcagctccct catgacattg ctgaaagcaa tcttatctgg ccttcgctgg cgtgctctga
     6121 ggcattgtat cctcatctgg tcccatcatg ggtttcgtgg tggttttcac gcatgcctca
     6181 ctgtcctaac cagtcggtcc ctgtggggcc tgctagctct tgcagctacc tccatgctca
     6241 tccctgaggc ccagaaatca ctggcagcct cactttcatg tctacttgac tgctgtctcc
     6301 ccatgacagt acacagagct tatggaggct aacaaagctt ccagggtacc agagaagaaa
     6361 cagggtacat gtctccaaac ctgaatagac ttcgtagtgg gcaaataatg gtcacccaaa
     6421 gatgcccaca tcctcatctc tagaacctat ggctatgttg ttacatggca agggtgaatt
     6481 aaagtatagt ggaattaaga ttgctaatca gctgaccttg agataggaag agcgtcccaa
     6541 attatccagg tgggtccagt ggaatcccaa gggcccttaa atgtggacga agcagaagag
     6601 tcagtgtgag agcaatacag tatgagaaaa acaccactgg cctgtactgc ctttgcgtag
     6661 ggaagtggac atgagctgag gaaggcaggc tgcttctaga agctggcaaa tgccagaaaa
     6721 ccgattctcc cctaaaacat ccagaaagga atgcagccct gccaacatct tgattttagc
     6781 ccagtgacac ccttgtagga ctttggacct ccagatctgt aagataatac atttgtgttg
     6841 ttttaagcca tgaagtttat agtaatttgt ttcagcagca acagaaaaca aatacatttg
     6901 tattgttatc tccttccctg agttttggca gccagagcct gtctcagaga tctattcctg
     6961 ttctcactgt ggtcctcttc ccttcaccta gctcactcct tcccctctaa tattctattc
     7021 ctctacatct gcttgggaaa gtataaacct catattctaa gtctttgctg gctttggtta
     7081 tagaaaatac acagccgtgt tgtctcattc tattatctgt cagtagcaga aacctgaaat
     7141 tggtagcttc aacaaactag tgtttgcttt tctcttgaat aaaggaagtc aggaggtaaa
     7201 tatatgatca ccttttaatt actttttaaa atatttctta ggttttgtta acaatgggaa
     7261 actgcttaca tttcttttga aaattaaaat gaattataaa gttaaaaaga ttttcactca
     7321 aatgaaagtg tcctagaaga ttttaagaat ttaggttgga aatttagagg tgacgatcag
     7381 catataacat caataccctg aaagtcccta tgatcgtcac acgttgtcta attgcattaa
     7441 ttttgatttt ggggaagttg gggctaccct acctctgtct ccaaaaggca catttcaagg
     7501 caatgttgtc tgtcgttttg ctctggctga aatcacatag ctacgggctg gttctgccca
     7561 gccagagctt ccctttgctc atctgctgca tttgaaataa ttattgctac aagaataatg
     7621 gaacatcaat aaggggtgct aatcaccgga ggaggtggcc ctcatttgtc tgagcctgag
     7681 tggtcatttt aggagtccac tggagacaag aatactccca aaggtgggtg gaattagggt
     7741 aggtgggagg aagttgccac agtgagatca cagcctctgg gagatgctgg ttttcctggc
     7801 ccagatcatg gaaaaaaaac atcaagactt ggatgacaac tttgagtgac tttgctatta
     7861 tgcaaggagt gaggcagggg tcagggaaac aacaagcaca gggtagaacc tgtcacagga
     7921 ataaaggtgc attccaagga tccaaagaag aaccttagcc ttgagaggaa aagctcagca
     7981 agtggtatga gaaatggaga actgctaggt gaaggccaac agggcaggaa gccgggcaga
     8041 gccagcatga aggtgcctct gggaactgga gggacaactg tgactctagc accgagtggg
     8101 gctaggggaa ccttctcctc tgttgggaat aaccaccaca ttcatcccct cccctgaccc
     8161 ctggacaaga gtggaggaca cttggagtgg agacaagcag gggtacctgt ttaaatcaac
     8221 agctgaggcc agatgcagag gctcatgcct gcaatcccag cactttggga ggctgaggtg
     8281 ggaggatcac ttgagcccta agagttgaag accagcctgg gcaacatggc aaaaccccat
     8341 ctctacaaac aataaaaaaa aaaaacagct ggacatggtg gcatgcgcct gtagtggcag
     8401 ataactcagg aggctgaggt ggggggatct gcttgagccc aggaggtgaa ggctgcattg
     8461 agctgtgatt gcaccactgc actccagcct gggtgacaga gcaagaccct gccaaaaaaa
     8521 aaaaaaaaga agaagaaaaa caattttatt ggtagaggcg gggggaataa tagagataca
     8581 gcaccagctc cctgcctcta aaatgtgggc acctgggtaa ctagatagcg caggaagtta
     8641 gaacaaataa aagcagcaaa ctctgtgact gaagtttcag cacatggatg gcaaatattt
     8701 tcaagtttgg tgaaaatagg taagagatca aagcccaaga ataaaccctg gggtcattac
     8761 aggatttcct gtaaaggcat caggaaatgt ttttggaaga atgtgattgt cttcgttgat
     8821 atcaacccaa agatgtggtt attgttcaga atgtcctgat tttctttaaa tgttttgttt
     8881 ctatctgacc tctcattata aatgagaaac ttataaatta taaatataca ctcattataa
     8941 atgaagattg cttggtaatg gactaatgga taattgtttc tgcttcttta ggatgttcta
     9001 aatttttccc aagttttgta cattaagcac aaaattataa caggaaaata aagaaaagaa
     9061 tttaaaataa acatgcaacc aaattttaaa cagataagta tatcatatta gataggaatc
     9121 accatactgg gtcagtcacc cctcctccaa atttttcttt attctttttt ttttattata
     9181 ctttaagttt tagggtacat gtgcacaacg tgcaggtttg ttacatatgt atacatgtgc
     9241 catgttggtg tgctgtaccc attaactcgt catttaccat taggtatatc tcctaatgct
     9301 atccctcccc cctcccccca ccccacaata ggccctggtg tgtgatgttc cccttcctgt
     9361 gtccatgtga tctcattgtt cgattcccac ctatgagtga gaatacgtgg tgtttggttt
     9421 tttgtccttg tattagtttg ctgagaatga tggtttccag cttcatccat gtccctacaa
     9481 aggacacgaa ctcctcattt tttatggctg catagtattc catggtgtat atgtgccaca
     9541 ttttcttaat ccagtctatc gttgttggac atttgggttg gttccaagtc tttgctattg
     9601 tgaatagtgc cacaataaac atatgtgtgc atgtgtcttt atagcagcat gatttctaat
     9661 cctttgggta tatacccagt aatgggatgg ctgggtcaaa tggtatttct agttctagat
     9721 ccctgaggaa tcgccacact gacttccaca atggttgaac tagtttacag tcccaccaac
     9781 agtgtaaaag tgttcctatt tctccacatc ctctccagca cctgttgttt cctgactttt
     9841 taatgatcgc cattctaact ggtgtgagat ggtatctcat tgtggttttg atttgcattt
     9901 ctctgatggc cagtgatgat gagcattata aatgaagatt gcttggtagt ggactaatgg
     9961 ataattgttt ctgcttcttt aggattttct aaatttttcc caagttttgt atattaagca
    10021 caaaattata acaggaaaat aaagaaaaga atttaaaata aa
//
LOCUS       NM_000389               2117 bp    mRNA    linear   PRI 20-SEP-2023
DEFINITION  Homo sapiens cyclin dependent kinase inhibitor 1A (CDKN1A),
            transcript variant 1, mRNA.
ACCESSION   NM_000389
VERSION     NM_000389.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2117)
  AUTHORS   Yang Y, Zhou Z, Wang L, Gao P and Wu Z.
  TITLE     G9a and DNMT1 inhibition modulates CDKN1A promoter methylation and
            the cell cycle leading to improvement in kidney fibrosis
  JOURNAL   Biochim Biophys Acta Gen Subj 1867 (9), 130417 (2023)
   PUBMED   37356504
  REMARK    GeneRIF: G9a and DNMT1 inhibition modulates CDKN1A promoter
            methylation and the cell cycle leading to improvement in kidney
            fibrosis.
REFERENCE   2  (bases 1 to 2117)
  AUTHORS   Macedo JMB, Silva AL, Pinto AC, Landeira LFL, Portari EA,
            Santos-Reboucas CB and Klumb EM.
  TITLE     TP53 and p21 (CDKN1A) polymorphisms and the risk of systemic lupus
            erythematosus
  JOURNAL   Adv Rheumatol 63 (1), 43 (2023)
   PUBMED   37605254
  REMARK    GeneRIF: TP53 and p21 (CDKN1A) polymorphisms and the risk of
            systemic lupus erythematosus. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2117)
  AUTHORS   Mo Y, Liang Z, Lan L, Xiong X, Zhang C, Liu W, Huang H, Fan J and
            Yang L.
  TITLE     Extracellular vesicles derived from cervical cancer cells carrying
            MCM3AP-AS1 promote angiogenesis and tumor growth in cervical cancer
            via the miR-93/p21 axis
  JOURNAL   Exp Cell Res 428 (2), 113621 (2023)
   PUBMED   37137462
  REMARK    GeneRIF: Extracellular vesicles derived from cervical cancer cells
            carrying MCM3AP-AS1 promote angiogenesis and tumor growth in
            cervical cancer via the miR-93/p21 axis.
REFERENCE   4  (bases 1 to 2117)
  AUTHORS   Belanger F, Roussel C, Sawchyn C, St-Hilaire E, Gezzar-Dandashi S,
            Kimenyi Ishimwe AB, Mallette FA, Wurtele H and Drobetsky E.
  TITLE     A genome-wide screen reveals that Dyrk1A kinase promotes nucleotide
            excision repair by preventing aberrant overexpression of cyclin D1
            and p21
  JOURNAL   J Biol Chem 299 (7), 104900 (2023)
   PUBMED   37301510
  REMARK    GeneRIF: A genome-wide screen reveals that Dyrk1A kinase promotes
            nucleotide excision repair by preventing aberrant overexpression of
            cyclin D1 and p21.
REFERENCE   5  (bases 1 to 2117)
  AUTHORS   Datkhile KD, Bhosale SJ, Durgawale PP, Jagdale NJ, More AL, Gudur
            RA, Gudur AK and Patil SR.
  TITLE     TP53 (rs1042522, rs28934571) and TP21 (rs1801270, rs1059234)
            Polymorphisms and Risk of Breast Cancer among Rural Women of
            Maharashtra: Findings from a Hospital Based Case- Control Study
  JOURNAL   Asian Pac J Cancer Prev 24 (5), 1611-1619 (2023)
   PUBMED   37247280
  REMARK    GeneRIF: TP53 (rs1042522, rs28934571) and TP21 (rs1801270,
            rs1059234) Polymorphisms and Risk of Breast Cancer among Rural Women
            of Maharashtra: Findings from a Hospital Based Case- Control Study.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2117)
  AUTHORS   Kim KM, Cho H and Kim YK.
  TITLE     The upstream open reading frame of cyclin-dependent kinase inhibitor
            1A mRNA negatively regulates translation of the downstream main open
            reading frame
  JOURNAL   Biochem Biophys Res Commun 424 (3), 469-475 (2012)
   PUBMED   22771799
  REMARK    GeneRIF: These findings provide biological insights into the
            possible role of nonsense-mediated mRNA decay in diverse biological
            pathways mediated by CDKN1A.
REFERENCE   7  (bases 1 to 2117)
  AUTHORS   Kearsey JM, Coates PJ, Prescott AR, Warbrick E and Hall PA.
  TITLE     Gadd45 is a nuclear cell cycle regulated protein which interacts
            with p21Cip1
  JOURNAL   Oncogene 11 (9), 1675-1683 (1995)
   PUBMED   7478594
REFERENCE   8  (bases 1 to 2117)
  AUTHORS   Hall M, Bates S and Peters G.
  TITLE     Evidence for different modes of action of cyclin-dependent kinase
            inhibitors: p15 and p16 bind to kinases, p21 and p27 bind to cyclins
  JOURNAL   Oncogene 11 (8), 1581-1588 (1995)
   PUBMED   7478582
REFERENCE   9  (bases 1 to 2117)
  AUTHORS   Mousses S, Ozcelik H, Lee PD, Malkin D, Bull SB and Andrulis IL.
  TITLE     Two variants of the CIP1/WAF1 gene occur together and are associated
            with human cancer
  JOURNAL   Hum Mol Genet 4 (6), 1089-1092 (1995)
   PUBMED   7655464
REFERENCE   10  (bases 1 to 2117)
  AUTHORS   Demetrick DJ, Matsumoto S, Hannon GJ, Okamoto K, Xiong Y, Zhang H
            and Beach DH.
  TITLE     Chromosomal mapping of the genes for the human cell cycle proteins
            cyclin C (CCNC), cyclin E (CCNE), p21 (CDKN1) and KAP (CDKN3)
  JOURNAL   Cytogenet Cell Genet 69 (3-4), 190-192 (1995)
   PUBMED   7698009
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.421140.1, BC013967.2
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000244741.10/ ENSP00000244741.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z85996.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000389.4.
            Summary: This gene encodes a potent cyclin-dependent kinase
            inhibitor. The encoded protein binds to and inhibits the activity
            of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4
            complexes, and thus functions as a regulator of cell cycle
            progression at G1. The expression of this gene is tightly
            controlled by the tumor suppressor protein p53, through which this
            protein mediates the p53-dependent cell cycle G1 phase arrest in
            response to a variety of stress stimuli. This protein can interact
            with proliferating cell nuclear antigen, a DNA polymerase accessory
            factor, and plays a regulatory role in S phase DNA replication and
            DNA damage repair. This protein was reported to be specifically
            cleaved by CASP3-like caspases, which thus leads to a dramatic
            activation of cyclin-dependent kinase2, and may be instrumental in
            the execution of apoptosis following caspase activation. Mice that
            lack this gene have the ability to regenerate damaged or missing
            tissue. Multiple alternatively spliced variants have been found for
            this gene. [provided by RefSeq, Sep 2015].
            Transcript Variant: This variant (1) differs in the 5' UTR, lacks
            an in-frame portion of the 5' coding region, and initiates
            translation at a downstream start codon, compared to variant 3. The
            resulting isoform (1) has a shorter N-terminus, compared to isoform
            2. Variants 1, 2, 4, 5, and 10 all encode the same isoform (1).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2117
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.2"
     gene            1..2117
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="cyclin dependent kinase inhibitor 1A"
                     /db_xref="GeneID:1026"
                     /db_xref="HGNC:HGNC:1784"
                     /db_xref="MIM:116899"
     misc_feature    7..9
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="upstream in-frame stop codon"
     CDS             91..585
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     melanoma differentiation associated protein 6;
                     CDK-interaction protein 1; wild-type p53-activated fragment
                     1; DNA synthesis inhibitor; cyclin-dependent kinase
                     inhibitor 1; CDK-interacting protein 1; cyclin-dependent
                     kinase inhibitor 1A (p21, Cip1)"
                     /codon_start=1
                     /product="cyclin-dependent kinase inhibitor 1 isoform 1"
                     /protein_id="NP_000380.1"
                     /db_xref="CCDS:CCDS4824.1"
                     /db_xref="GeneID:1026"
                     /db_xref="HGNC:HGNC:1784"
                     /db_xref="MIM:116899"
                     /translation="MSEPAGDVRQNPCGSKACRRLFGPVDSEQLSRDCDALMAGCIQEA
                     RERWNFDFVTETPLEGDFAWERVRGLGLPKLYLPTGPRRGRDELGGGRRPGTSPALLQG
                     TAEEDHVDLSLSCTLVPRSGEQAEGSPGGPGDSQGRKRRQTSMTDFYHSKRRLIFSKRK
                     P"
     misc_feature    94..96
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:15574338; propagated from
                     UniProtKB/Swiss-Prot (P38936.3); acetylation site"
     misc_feature    139..162
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P38936.3);
                     Region: Required for binding cyclins"
     misc_feature    247..264
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P38936.3);
                     Region: Required for binding CDKs"
     misc_feature    316..582
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P38936.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    328..330
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="Phosphothreonine, by LKB1.
                     /evidence=ECO:0000269|PubMed:25329316; propagated from
                     UniProtKB/Swiss-Prot (P38936.3); phosphorylation site"
     misc_feature    430..432
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="Phosphoserine, by GSK3-beta.
                     /evidence=ECO:0000269|PubMed:18794347; propagated from
                     UniProtKB/Swiss-Prot (P38936.3); phosphorylation site"
     misc_feature    478..480
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P38936.3); phosphorylation site"
     misc_feature    508..582
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P38936.3);
                     Region: PIP-box K+4 motif"
     misc_feature    511..558
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P38936.3);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     misc_feature    523..525
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="Phosphothreonine, by PKA, PKB/AKT1, PIM1 and PIM2.
                     /evidence=ECO:0000269|PubMed:10753973,
                     ECO:0000269|PubMed:11463845, ECO:0000269|PubMed:12431783,
                     ECO:0000269|PubMed:16982699, ECO:0000269|PubMed:20307683;
                     propagated from UniProtKB/Swiss-Prot (P38936.3);
                     phosphorylation site"
     misc_feature    526..528
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="Phosphoserine, by PKC and NUAK1.
                     /evidence=ECO:0000269|PubMed:10753973,
                     ECO:0000269|PubMed:25329316; propagated from
                     UniProtKB/Swiss-Prot (P38936.3); phosphorylation site"
     misc_feature    544..582
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P38936.3);
                     Region: Interaction with TRIM39.
                     /evidence=ECO:0000269|PubMed:23213251"
     misc_feature    568..570
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="Phosphoserine, by PKC, in vitro.
                     /evidence=ECO:0000269|PubMed:10753973; propagated from
                     UniProtKB/Swiss-Prot (P38936.3); phosphorylation site"
     regulatory      2094..2099
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="hexamer: AATAAA"
     polyA_site      2117
                     /gene="CDKN1A"
                     /gene_synonym="CAP20; CDKN1; CIP1; MDA-6; P21; p21CIP1;
                     SDI1; WAF1"
                     /note="major polyA site"
ORIGIN
        1 gaggtgtgag cagctgccga agtcagttcc ttgtggagcc ggagctgggc gcggattcgc
       61 cgaggcaccg aggcactcag aggaggcgcc atgtcagaac cggctgggga tgtccgtcag
      121 aacccatgcg gcagcaaggc ctgccgccgc ctcttcggcc cagtggacag cgagcagctg
      181 agccgcgact gtgatgcgct aatggcgggc tgcatccagg aggcccgtga gcgatggaac
      241 ttcgactttg tcaccgagac accactggag ggtgacttcg cctgggagcg tgtgcggggc
      301 cttggcctgc ccaagctcta ccttcccacg gggccccggc gaggccggga tgagttggga
      361 ggaggcaggc ggcctggcac ctcacctgct ctgctgcagg ggacagcaga ggaagaccat
      421 gtggacctgt cactgtcttg tacccttgtg cctcgctcag gggagcaggc tgaagggtcc
      481 ccaggtggac ctggagactc tcagggtcga aaacggcggc agaccagcat gacagatttc
      541 taccactcca aacgccggct gatcttctcc aagaggaagc cctaatccgc ccacaggaag
      601 cctgcagtcc tggaagcgcg agggcctcaa aggcccgctc tacatcttct gccttagtct
      661 cagtttgtgt gtcttaatta ttatttgtgt tttaatttaa acacctcctc atgtacatac
      721 cctggccgcc ccctgccccc cagcctctgg cattagaatt atttaaacaa aaactaggcg
      781 gttgaatgag aggttcctaa gagtgctggg catttttatt ttatgaaata ctatttaaag
      841 cctcctcatc ccgtgttctc cttttcctct ctcccggagg ttgggtgggc cggcttcatg
      901 ccagctactt cctcctcccc acttgtccgc tgggtggtac cctctggagg ggtgtggctc
      961 cttcccatcg ctgtcacagg cggttatgaa attcaccccc tttcctggac actcagacct
     1021 gaattctttt tcatttgaga agtaaacaga tggcactttg aaggggcctc accgagtggg
     1081 ggcatcatca aaaactttgg agtcccctca cctcctctaa ggttgggcag ggtgaccctg
     1141 aagtgagcac agcctagggc tgagctgggg acctggtacc ctcctggctc ttgatacccc
     1201 cctctgtctt gtgaaggcag ggggaaggtg gggtcctgga gcagaccacc ccgcctgccc
     1261 tcatggcccc tctgacctgc actggggagc ccgtctcagt gttgagcctt ttccctcttt
     1321 ggctcccctg taccttttga ggagccccag ctaccctttt tctccagctg ggctctgcaa
     1381 ttcccctctg ctgctgtccc tcccccttgt cctttccctt cagtaccctc tcagctccag
     1441 gtggctctga ggtgcctgtc ccacccccac ccccagctca atggactgga aggggaaggg
     1501 acacacaaga agaagggcac cctagttcta cctcaggcag ctcaagcagc gaccgccccc
     1561 tcctctagct gtgggggtga gggtcccatg tggtggcaca ggcccccttg agtggggtta
     1621 tctctgtgtt aggggtatat gatgggggag tagatctttc taggagggag acactggccc
     1681 ctcaaatcgt ccagcgacct tcctcatcca ccccatccct ccccagttca ttgcactttg
     1741 attagcagcg gaacaaggag tcagacattt taagatggtg gcagtagagg ctatggacag
     1801 ggcatgccac gtgggctcat atggggctgg gagtagttgt ctttcctggc actaacgttg
     1861 agcccctgga ggcactgaag tgcttagtgt acttggagta ttggggtctg accccaaaca
     1921 ccttccagct cctgtaacat actggcctgg actgttttct ctcggctccc catgtgtcct
     1981 ggttcccgtt tctccaccta gactgtaaac ctctcgaggg cagggaccac accctgtact
     2041 gttctgtgtc tttcacagct cctcccacaa tgctgaatat acagcaggtg ctcaataaat
     2101 gattcttagt gacttta
//
LOCUS       NM_000390               5438 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens CHM Rab escort protein (CHM), transcript variant 1,
            mRNA.
ACCESSION   NM_000390
VERSION     NM_000390.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5438)
  AUTHORS   Iwagawa T, Masumoto H, Tabuchi H, Tani K, Conklin BR and Watanabe S.
  TITLE     Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia
            using human induced pluripotent stem cell-derived RPE
  JOURNAL   J Gene Med 25 (2), e3464 (2023)
   PUBMED   36413603
  REMARK    GeneRIF: Evaluation of CRISPR/Cas9 exon-skipping vector for
            choroideremia using human induced pluripotent stem cell-derived RPE.
REFERENCE   2  (bases 1 to 5438)
  AUTHORS   Fioretti T, Di Iorio V, Lombardo B, De Falco F, Cevenini A, Cattaneo
            F, Testa F, Pastore L, Simonelli F and Esposito G.
  TITLE     Molecular Characterization of Choroideremia-Associated Deletions
            Reveals an Unexpected Regulation of CHM Gene Transcription
  JOURNAL   Genes (Basel) 12 (8), 1111 (2021)
   PUBMED   34440285
  REMARK    GeneRIF: Molecular Characterization of Choroideremia-Associated
            Deletions Reveals an Unexpected Regulation of CHM Gene
            Transcription. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5438)
  AUTHORS   Cunha DL, Richardson R, Tracey-White D, Abbouda A, Mitsios A,
            Horneffer-van der Sluis V, Takis P, Owen N, Skinner J, Welch AA and
            Moosajee M.
  TITLE     REP1 deficiency causes systemic dysfunction of lipid metabolism and
            oxidative stress in choroideremia
  JOURNAL   JCI Insight 6 (9), 146934 (2021)
   PUBMED   33755601
  REMARK    GeneRIF: REP1 deficiency causes systemic dysfunction of lipid
            metabolism and oxidative stress in choroideremia. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 5438)
  AUTHORS   Tang H, Mao J, Xiang J, Liu M, Li H and Wang T.
  TITLE     Whole-exome sequencing identified a novel mutation in CHM of a
            Chinese family
  JOURNAL   J Genet 100 (2021)
   PUBMED   34282730
  REMARK    GeneRIF: Whole-exome sequencing identified a novel mutation in CHM
            of a Chinese family.
REFERENCE   5  (bases 1 to 5438)
  AUTHORS   van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz
            S, de Jong P, Ropers HH and Cremers FP.
  TITLE     Cloning and characterization of the human choroideremia gene
  JOURNAL   Hum Mol Genet 3 (7), 1041-1046 (1994)
   PUBMED   7981670
REFERENCE   6  (bases 1 to 5438)
  AUTHORS   MacDonald,I.M., Hume,S., Zhai,Y. and Xu,M.
  TITLE     Choroideremia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301511
REFERENCE   7  (bases 1 to 5438)
  AUTHORS   van den Hurk JA, van de Pol TJ, Molloy CM, Brunsmann F, Ruther K,
            Zrenner E, Pinckers AJ, Pawlowitzki IH, Bleeker-Wagemakers EM,
            Wieringa B et al.
  TITLE     Detection and characterization of point mutations in the
            choroideremia candidate gene by PCR-SSCP analysis and direct DNA
            sequencing
  JOURNAL   Am J Hum Genet 50 (6), 1195-1202 (1992)
   PUBMED   1598901
REFERENCE   8  (bases 1 to 5438)
  AUTHORS   Sankila EM, Tolvanen R, van den Hurk JA, Cremers FP and de la
            Chapelle A.
  TITLE     Aberrant splicing of the CHM gene is a significant cause of
            choroideremia
  JOURNAL   Nat Genet 1 (2), 109-113 (1992)
   PUBMED   1302003
REFERENCE   9  (bases 1 to 5438)
  AUTHORS   Molloy CM, van de Pol TJ, Brohet RM, Ropers HH and Cremers FP.
  TITLE     Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2
  JOURNAL   Nucleic Acids Res 20 (6), 1434 (1992)
   PUBMED   1373238
REFERENCE   10  (bases 1 to 5438)
  AUTHORS   Merry DE, Janne PA, Landers JE, Lewis RA and Nussbaum RL.
  TITLE     Isolation of a candidate gene for choroideremia
  JOURNAL   Proc Natl Acad Sci U S A 89 (6), 2135-2139 (1992)
   PUBMED   1549574
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.341389.1,
            SRR14038191.932767.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000357749.7/ ENSP00000350386.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X78121.1, AK291160.1,
            AL022401.2 and BU688880.1.
            On Nov 23, 2018 this sequence version replaced NM_000390.3.
            Summary: This gene encodes component A of the RAB geranylgeranyl
            transferase holoenzyme. In the dimeric holoenzyme, this subunit
            binds unprenylated Rab GTPases and then presents them to the
            catalytic Rab GGTase subunit for the geranylgeranyl transfer
            reaction. Rab GTPases need to be geranylgeranyled on either one or
            two cysteine residues in their C-terminus to localize to the
            correct intracellular membrane. Mutations in this gene are a cause
            of choroideremia; also known as tapetochoroidal dystrophy (TCD).
            This X-linked disease is characterized by progressive dystrophy of
            the choroid, retinal pigment epithelium and retina. Alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Mar 2016].
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes the longest isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5438
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.2"
     gene            1..5438
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /note="CHM Rab escort protein"
                     /db_xref="GeneID:1121"
                     /db_xref="HGNC:HGNC:1940"
                     /db_xref="MIM:300390"
     CDS             27..1988
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /note="isoform a is encoded by transcript variant 1; rab
                     proteins geranylgeranyltransferase component A 1;
                     choroideremia (Rab escort protein 1); CHM, Rab escort
                     protein 1"
                     /codon_start=1
                     /product="rab proteins geranylgeranyltransferase component
                     A 1 isoform a"
                     /protein_id="NP_000381.1"
                     /db_xref="CCDS:CCDS14454.1"
                     /db_xref="GeneID:1121"
                     /db_xref="HGNC:HGNC:1940"
                     /db_xref="MIM:300390"
                     /translation="MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGG
                     NWASFSFSGLLSWLKEYQENSDIVSDSPVWQDQILENEEAIALSRKDKTIQHVEVFCYA
                     SQDLHEDVEEAGALQKNHALVTSANSTEAADSAFLPTEDESLSTMSCEMLTEQTPSSDP
                     ENALEVNGAEVTGEKENHCDDKTCVPSTSAEDMSENVPIAEDTTEQPKKNRITYSQIIK
                     EGRRFNIDLVSKLLYSRGLLIDLLIKSNVSRYAEFKNITRILAFREGRVEQVPCSRADV
                     FNSKQLTMVEKRMLMKFLTFCMEYEKYPDEYKGYEEITFYEYLKTQKLTPNLQYIVMHS
                     IAMTSETASSTIDGLKATKNFLHCLGRYGNTPFLFPLYGQGELPQCFCRMCAVFGGIYC
                     LRHSVQCLVVDKESRKCKAIIDQFGQRIISEHFLVEDSYFPENMCSRVQYRQISRAVLI
                     TDRSVLKTDSDQQISILTVPAEEPGTFAVRVIELCSSTMTCMKGTYLVHLTCTSSKTAR
                     EDLESVVQKLFVPYTEMEIENEQVEKPRILWALYFNMRDSSDISRSCYNDLPSNVYVCS
                     GPDCGLGNDNAVKQAETLFQEICPNEDFCPPPPNPEDIILDGDSLQPEASESSAIPEAN
                     SETFKESTNLGNLEESSE"
     misc_feature    1842..1985
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /note="propagated from UniProtKB/Swiss-Prot (P24386.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      5414..5419
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /note="hexamer: AATAAA"
     polyA_site      5438
                     /gene="CHM"
                     /gene_synonym="DXS540; GGTA; HSD-32; REP-1; TCD"
                     /note="major polyA site"
ORIGIN
        1 agtcacatga cacgtttccc gtcaagatgg cggatactct cccttcggag tttgatgtga
       61 tcgtaatagg gacgggtttg cctgaatcca tcattgcagc tgcatgttca agaagtggcc
      121 ggagagttct gcatgttgat tcaagaagct actatggagg aaactgggcc agttttagct
      181 tttcaggact attgtcctgg ctaaaggaat accaggaaaa cagtgacatt gtaagtgaca
      241 gtccagtgtg gcaagaccag atccttgaaa atgaagaagc cattgctctt agcaggaagg
      301 acaaaactat tcaacatgtg gaagtatttt gttatgccag tcaggatttg catgaagatg
      361 tcgaagaagc tggtgcactg cagaaaaatc atgctcttgt gacatctgca aactccacag
      421 aagctgcaga ttctgccttc ctgcctacgg aggatgagtc attaagcact atgagctgtg
      481 aaatgctcac agaacaaact ccaagcagcg atccagagaa tgcgctagaa gtaaatggtg
      541 ctgaagtgac aggggaaaaa gaaaaccatt gtgatgataa aacttgtgtg ccatcaactt
      601 cagcagaaga catgagtgaa aatgtgccta tagcagaaga taccacagag caaccaaaga
      661 aaaacagaat tacttactca caaattatta aagaaggcag gagatttaat attgatttag
      721 tatcaaagct gctgtattct cgaggattac taattgatct tctaatcaaa tctaatgtta
      781 gtcgatatgc agagtttaaa aatattacca ggattcttgc atttcgagaa ggacgagtgg
      841 aacaggttcc gtgttccaga gcagatgtct ttaatagcaa acaacttact atggtagaaa
      901 agcgaatgct aatgaaattt cttacatttt gtatggaata tgagaaatat cctgatgaat
      961 ataaaggata tgaagagatc acattttatg aatatttaaa gactcaaaaa ttaaccccca
     1021 acctccaata tattgtcatg cattcaattg caatgacatc agagacagcc agcagcacca
     1081 tagatggtct caaagctacc aaaaactttc ttcactgtct tgggcggtat ggcaacactc
     1141 catttttgtt tcctttatat ggccaaggag aactccccca gtgtttctgc aggatgtgtg
     1201 ctgtgtttgg tggaatttat tgtcttcgcc attcagtaca gtgccttgta gtggacaaag
     1261 aatccagaaa atgtaaagca attatagatc agtttggtca gagaataatc tctgagcatt
     1321 tcctcgtgga ggacagttac tttcctgaga acatgtgctc acgtgtgcaa tacaggcaga
     1381 tctccagggc agtgctgatt acagatagat ctgtcctaaa aacagattca gatcaacaga
     1441 tttccatttt gacagtgcca gcagaggaac caggaacttt tgctgttcgg gtcattgagt
     1501 tatgttcttc aacgatgaca tgcatgaaag gcacctattt ggttcatttg acttgcacat
     1561 cttctaaaac agcaagagaa gatttagaat cagttgtgca gaaattgttt gttccatata
     1621 ctgaaatgga gatagaaaat gaacaagtag aaaagccaag aattctgtgg gctctttact
     1681 tcaatatgag agattcgtca gacatcagca ggagctgtta taatgattta ccatccaacg
     1741 tttatgtctg ctctggccca gattgtggtt taggaaatga taatgcagtc aaacaggctg
     1801 aaacactttt ccaggaaatc tgccccaatg aagatttctg tccccctcca ccaaatcctg
     1861 aagacattat ccttgatgga gacagtttac agccagaggc ttcagaatcc agtgccatac
     1921 cagaggctaa ctcggagact ttcaaggaaa gcacaaacct tggaaaccta gaggagtcct
     1981 ctgaataatg gatatacacc aaactggata cccaactttg gaaattctga ctggtctcag
     2041 agtctacttg atagaaggac tgtttgagaa atgttagaaa gcagcagcaa ttataaggca
     2101 aaataggtaa tagaaatcca aaaggggatt ttccttatag aggacattcc aagaacacac
     2161 aacacttata aagcacattg acttgctcat tttaaatacc aaacttgtgt gactagcaga
     2221 tgaaaattat aaatcaattg attctcagga atgtaactgt ggatatgaaa gtgatcctat
     2281 gcattgttaa taattccatg gtcttaggac aattttgctt accactttgg atctttgttt
     2341 gaaagccaca ttttcagaac cagctcatgt attttctttg gttatttgaa ttttattttc
     2401 tttatggaca agagcatcat aacataatga taaaaacata tagaaaaact aaagtatcat
     2461 gatctagata gaagcctgta tttggaatac aggtttgttt tgctttctat gttgagaagc
     2521 attgaaaatg ctaatataaa ggtgtttaga catttttacg aataagtcag tagtgttttt
     2581 tagtatcagt agtgatattt gtttgtaaat tatttacata ttgggaaagg tcaataatga
     2641 agaaatgaaa gaatggaagg aaaggtgtgg ataggctcat tggtatttga atattctgtc
     2701 tgtcaagtaa ctagagtatt aggctaattg tctacagacc taatttaatc ctggctgtcc
     2761 tactgatgat atttggtaaa ttgtttaact tctgagccta cgtttctcca tatataaagt
     2821 ggaaatagta ttactatgcc tactatatga gaatggttat gaagacaatg caatgccatg
     2881 tttagaatcg gtttgccaga agaaaattgt tttagaattt tcccattgac ttgatgaatc
     2941 tcaaaagtct cacgcaggaa ataattgctt gctgtcagtc aacttccaaa caaaatagat
     3001 cacagtgttt ttattgcatt aagcttttta aatgaaaatt tcttttttaa agtagtattt
     3061 tatagtctta cagaccagta aaaatagtaa caagtagaat tgtggttttg aaatattact
     3121 aaggaaaaca ctctataaat tgttttattc cttttctggt aggtaaacct gcaaccacca
     3181 aggactccaa attgtgtatg acagttggta agccctaata tacactacat aaaaacgtta
     3241 gggctgcctg taatcccagc actttgggaa gctgaggtgg gtagatcact tgaggtcagg
     3301 agttcgagac cagcctggcc aacatggcga aaccctgtct ctactaaaaa tacaaaattt
     3361 tagctgggtg ttatggtggg cacctgtaat cccagctact ttgaagatga ggtagcagac
     3421 tcacttgaac cagggaggcg gaggttgcag tgagccaaga ttttgccact gcactccagc
     3481 ctgggtgaca gagcaagact ctgtctcaca aaaaaaaaaa aagggggctg tacataggca
     3541 gcaaactaag ctgcagtgat gttgcctata tttaaatttt ctcaaatggc caagctctga
     3601 tggtctactt tatttgagca atagttgaga cttataattg cctataaata aacaaacaaa
     3661 tgaactattt gttttttttt ctcacaacat ctggcctata ttgtctgtca ggaagccatg
     3721 gctccaatgt aaagtacata gttcttacat acttcaactg cagctggtcc ctgacctcac
     3781 caggtttcag agatgttctt aaaggaagcc agctgtggca ggtcacagat tcatgggaaa
     3841 tggaaagaac caaggaatat agctcttgcc tcacctttct acccactgca gatatagttc
     3901 aagccagagt aatggaagaa cttaacttac tagcctctca ggctgctcct atccctacct
     3961 cccagtgtac agcccctccc catctcttta gtcccctttc cctcacttcc ccttttataa
     4021 tgtcacacaa atcagggaca gtaggatcac attataacct actttgtcat agggattcga
     4081 tttttcttat atcaaatcat gtttcctgaa acccagctgg ggcatatgca ctcaatgtct
     4141 aatacatact tattaatgta ccggatattg gccttgcccc tggatatcag caatatatta
     4201 taaaaggttc cagtagatga gacgattgag tctgaataca attgcagtaa attgtgccaa
     4261 taaagatatt gtactgttac ggtcttagag ttaaagccgc ttgaatgcag catgcacatt
     4321 catgtaaaca gacaatcagg gtaggcctag aataaccaca aaaattctat tggccttact
     4381 gcagccacct atatgtagaa caatggagga gatagtttgt ggtccattat tgtaccctgt
     4441 ttcatccatt agcatcagaa tctctctttc aggtcattta ttaaatatga ttgaaatgtt
     4501 taaaagttcc tgaacatgat tcatgatgat taaaatatca tacaactgat aaaagacttt
     4561 aagaacttta tatatttcct gttgcctcaa aatgtaacag aaattattct tagagctttg
     4621 attttagcta tcctaattac tgcaaataaa tatttgttct tatagtttta aatcaaaaag
     4681 aaaagtcttg ttataaaacc ttaagcttga aatcatatta ataaaatata ttgtacatag
     4741 tggaaaattt tcagtagcta atttaaaatt tcagaaaatg ctattaaaga attttgattc
     4801 aagtatttaa actgtttagt tatgcatgct tcttattaac cgaaaatgat aataccattt
     4861 agtttagtga tcagtatgag aagcaatacc taatcctatg ttgctattgt attttttcct
     4921 agttggtgtg cctgctcaga aaaacatata ctgtatgtgt atacatacct gtgtatatat
     4981 aaaaggtcaa tttatatatt tttctatagg aaaatggagt aacaagttcc ctatctccca
     5041 tatttatttg tccatagtaa aatggccaca ttgatgataa tttctagaac tagtttctga
     5101 gattgtcagc cctttgtcta aaataatggc agtattaatg attgacttct gtcactgcca
     5161 tagttacctg gattgtcagc cttggtagcc tttgtctaaa gtcctaaaga gttccaaaaa
     5221 aaatgtgttg aaatttaatt gctaaatagt ggttggtgat tctttacagt aggaattgta
     5281 ataattttct tgcaaataag ttatttactg ctattgatat tgaataattt gtcttttatt
     5341 cagatatatt tcaaaaagca tgaatatatg attattcata aattgtatac tttaccagta
     5401 agttttcaga ggaaataaag acttttaaat ccttttca
//
LOCUS       NM_000391               3492 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens tripeptidyl peptidase 1 (TPP1), mRNA.
ACCESSION   NM_000391
VERSION     NM_000391.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3492)
  AUTHORS   Sleat DE, Banach-Petrosky W, Larrimore KE, Nemtsova Y, Wiseman JA,
            Najafi A, Johnson D, Poole TA, Takahashi K, Cooper JD and Lobel P.
  TITLE     A mouse mutant deficient in both neuronal ceroid
            lipofuscinosis-associated proteins CLN3 and TPP1
  JOURNAL   J Inherit Metab Dis 46 (4), 720-734 (2023)
   PUBMED   37078466
REFERENCE   2  (bases 1 to 3492)
  AUTHORS   Wang H, Ma T, Zhang X, Chen W, Lan Y, Kuang G, Hsu SJ, He Z, Chen Y,
            Stewart J, Bhattacharjee A, Luo Z, Price C and Feng X.
  TITLE     CTC1 OB-B interaction with TPP1 terminates telomerase and prevents
            telomere overextension
  JOURNAL   Nucleic Acids Res 51 (10), 4914-4928 (2023)
   PUBMED   37021555
REFERENCE   3  (bases 1 to 3492)
  AUTHORS   Knoernschild K, Johnson HJ, Schroeder KE, Swier VJ, White KA, Sato
            TS, Rogers CS, Weimer JM and Sieren JC.
  TITLE     Magnetic resonance brain volumetry biomarkers of CLN2 Batten disease
            identified with miniswine model
  JOURNAL   Sci Rep 13 (1), 5146 (2023)
   PUBMED   36991106
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3492)
  AUTHORS   Wen J, Zhong X, Gao C, Yang M, Tang M, Yuan Z, Wang Q, Xu L, Ma Q,
            Guo X and Fang L.
  TITLE     TPP1 Inhibits DNA Damage Response and Chemosensitivity in Esophageal
            Cancer
  JOURNAL   Crit Rev Eukaryot Gene Expr 33 (8), 77-91 (2023)
   PUBMED   37606165
  REMARK    GeneRIF: TPP1 Inhibits DNA Damage Response and Chemosensitivity in
            Esophageal Cancer.
REFERENCE   5  (bases 1 to 3492)
  AUTHORS   Lin L, Sohar I, Lackland H and Lobel P.
  TITLE     The human CLN2 protein/tripeptidyl-peptidase I is a serine protease
            that autoactivates at acidic pH
  JOURNAL   J Biol Chem 276 (3), 2249-2255 (2001)
   PUBMED   11054422
REFERENCE   6  (bases 1 to 3492)
  AUTHORS   Liu CG, Sleat DE, Donnelly RJ and Lobel P.
  TITLE     Structural organization and sequence of CLN2, the defective gene in
            classical late infantile neuronal ceroid lipofuscinosis
  JOURNAL   Genomics 50 (2), 206-212 (1998)
   PUBMED   9653647
REFERENCE   7  (bases 1 to 3492)
  AUTHORS   Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK and
            Lobel P.
  TITLE     Association of mutations in a lysosomal protein with classical
            late-infantile neuronal ceroid lipofuscinosis
  JOURNAL   Science 277 (5333), 1802-1805 (1997)
   PUBMED   9295267
REFERENCE   8  (bases 1 to 3492)
  AUTHORS   Page AE, Fuller K, Chambers TJ and Warburton MJ.
  TITLE     Purification and characterization of a tripeptidyl peptidase I from
            human osteoclastomas: evidence for its role in bone resorption
  JOURNAL   Arch Biochem Biophys 306 (2), 354-359 (1993)
   PUBMED   8215436
REFERENCE   9  (bases 1 to 3492)
  AUTHORS   Mole,S.E. and Williams,R.E.
  TITLE     Neuronal Ceroid-Lipofuscinoses - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301601
REFERENCE   10  (bases 1 to 3492)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.99248.1,
            SRR1803617.135364.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000299427.12/ ENSP00000299427.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP279860.1, BC014863.1,
            AC091564.12 and AI023962.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 24, 2018 this sequence version replaced NM_000391.3.
            Summary: This gene encodes a member of the sedolisin family of
            serine proteases. The protease functions in the lysosome to cleave
            N-terminal tripeptides from substrates, and has weaker
            endopeptidase activity. It is synthesized as a
            catalytically-inactive enzyme which is activated and
            auto-proteolyzed upon acidification. Mutations in this gene result
            in late-infantile neuronal ceroid lipofuscinosis, which is
            associated with the failure to degrade specific neuropeptides and a
            subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3492
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..3492
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /note="tripeptidyl peptidase 1"
                     /db_xref="GeneID:1200"
                     /db_xref="HGNC:HGNC:2073"
                     /db_xref="MIM:607998"
     CDS             23..1714
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /EC_number="3.4.14.9"
                     /note="tripeptidyl aminopeptidase; tripeptidyl peptidase I;
                     lysosomal pepstatin insensitive protease; growth-inhibiting
                     protein 1; cell growth-inhibiting gene 1 protein; lysosomal
                     pepstatin-insensitive carboxypeptidase"
                     /codon_start=1
                     /product="tripeptidyl-peptidase 1 preproprotein"
                     /protein_id="NP_000382.3"
                     /db_xref="CCDS:CCDS7770.1"
                     /db_xref="GeneID:1200"
                     /db_xref="HGNC:HGNC:2073"
                     /db_xref="MIM:607998"
                     /translation="MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPEE
                     ELSLTFALRQQNVERLSELVQAVSDPSSPQYGKYLTLENVADLVRPSPLTLHTVQKWLL
                     AAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHVVRSPHPYQLPQAL
                     APHVDFVGGLHRFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYNLTSQDVGSGTSN
                     NSQACAQFLEQYFHDSDLAQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYLM
                     SAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHVHTVSYGDDEDSLSSAYIQRV
                     NTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLI
                     TNEIVDYISGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYPDVAALSDG
                     YWVVSNRVPIPWVSGTSASTPVFGGILSLINEHRILSGRPPLGFLNPRLYQQHGAGLFD
                     VTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTLLNP"
     sig_peptide     23..79
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
     proprotein      80..1711
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /product="tripeptidyl-peptidase 1 proprotein"
     mat_peptide     608..1711
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /product="tripeptidyl-peptidase 1"
     misc_feature    650..652
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19038966,
                     ECO:0000269|PubMed:19038967, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (O14773.2);
                     glycosylation site"
     misc_feature    686..688
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (O14773.2); glycosylation site"
     misc_feature    878..880
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19038966,
                     ECO:0000269|PubMed:19038967; propagated from
                     UniProtKB/Swiss-Prot (O14773.2); glycosylation site"
     misc_feature    959..961
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19038966,
                     ECO:0000269|PubMed:19038967, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (O14773.2);
                     glycosylation site"
     misc_feature    1349..1351
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:19038966, ECO:0000269|PubMed:19038967,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (O14773.2); glycosylation site"
     regulatory      3469..3474
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /note="hexamer: ATTAAA"
     polyA_site      3492
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /note="major polyA site"
ORIGIN
        1 agcagatccg cggaagggca gaatgggact ccaagcctgc ctcctagggc tctttgccct
       61 catcctctct ggcaaatgca gttacagccc ggagcccgac cagcggagga cgctgccccc
      121 aggctgggtg tccctgggcc gtgcggaccc tgaggaagag ctgagtctca cctttgccct
      181 gagacagcag aatgtggaaa gactctcgga gctggtgcag gctgtgtcgg atcccagctc
      241 tcctcaatac ggaaaatacc tgaccctaga gaatgtggct gatctggtga ggccatcccc
      301 actgaccctc cacacggtgc aaaaatggct cttggcagcc ggagcccaga agtgccattc
      361 tgtgatcaca caggactttc tgacttgctg gctgagcatc cgacaagcag agctgctgct
      421 ccctggggct gagtttcatc actatgtggg aggacctacg gaaacccatg ttgtaaggtc
      481 cccacatccc taccagcttc cacaggcctt ggccccccat gtggactttg tggggggact
      541 gcaccgtttt cccccaacat catccctgag gcaacgtcct gagccgcagg tgacagggac
      601 tgtaggcctg catctggggg taaccccctc tgtgatccgt aagcgataca acttgacctc
      661 acaagacgtg ggctctggca ccagcaataa cagccaagcc tgtgcccagt tcctggagca
      721 gtatttccat gactcagacc tggctcagtt catgcgcctc ttcggtggca actttgcaca
      781 tcaggcatca gtagcccgtg tggttggaca acagggccgg ggccgggccg ggattgaggc
      841 cagtctagat gtgcagtacc tgatgagtgc tggtgccaac atctccacct gggtctacag
      901 tagccctggc cggcatgagg gacaggagcc cttcctgcag tggctcatgc tgctcagtaa
      961 tgagtcagcc ctgccacatg tgcatactgt gagctatgga gatgatgagg actccctcag
     1021 cagcgcctac atccagcggg tcaacactga gctcatgaag gctgccgctc ggggtctcac
     1081 cctgctcttc gcctcaggtg acagtggggc cgggtgttgg tctgtctctg gaagacacca
     1141 gttccgccct accttccctg cctccagccc ctatgtcacc acagtgggag gcacatcctt
     1201 ccaggaacct ttcctcatca caaatgaaat tgttgactat atcagtggtg gtggcttcag
     1261 caatgtgttc ccacggcctt cataccagga ggaagctgta acgaagttcc tgagctctag
     1321 cccccacctg ccaccatcca gttacttcaa tgccagtggc cgtgcctacc cagatgtggc
     1381 tgcactttct gatggctact gggtggtcag caacagagtg cccattccat gggtgtccgg
     1441 aacctcggcc tctactccag tgtttggggg gatcctatcc ttgatcaatg agcacaggat
     1501 ccttagtggc cgcccccctc ttggctttct caacccaagg ctctaccagc agcatggggc
     1561 aggactcttt gatgtaaccc gtggctgcca tgagtcctgt ctggatgaag aggtagaggg
     1621 ccagggtttc tgctctggtc ctggctggga tcctgtaaca ggctggggaa cacccaactt
     1681 cccagctttg ctgaagactc tactcaaccc ctgacccttt cctatcagga gagatggctt
     1741 gtcccctgcc ctgaagctgg cagttcagtc ccttattctg ccctgttgga agccctgctg
     1801 aaccctcaac tattgactgc tgcagacagc ttatctccct aaccctgaaa tgctgtgagc
     1861 ttgacttgac tcccaaccct accatgctcc atcatactca ggtctcccta ctcctgcctt
     1921 agattcctca ataagatgct gtaactagca ttttttgaat gcctctccct ccgcatctca
     1981 tctttctctt ttcaatcagg cttttccaaa gggttgtata cagactctgt gcactatttc
     2041 acttgatatt cattccccaa ttcactgcaa ggagacctct actgtcaccg tttactcttt
     2101 cctaccctga catccagaaa caatggcctc cagtgcatac ttctcaatct ttgctttatg
     2161 gcctttccat catagttgcc cactccctct ccttacttag cttccaggtc ttaacttctc
     2221 tgactactct tgtcttcctc tctcatcaat ttctgcttct tcatggaatg ctgaccttca
     2281 ttgctccatt tgtagatttt tgctcttctc agtttactca ttgtcccctg gaacaaatca
     2341 ctgacatcta caaccattac catctcacta aataagactt tctatccaat aatgattgat
     2401 acctcaaatg taagatgcgt gatactcaac atttcatcgt ccaccttccc aaccccaaac
     2461 aattccatct cgtttcttct tggtaaatga tgctatgctt tttccaacca agccagaaac
     2521 ctgtgtcatc ttttcacccc accttcaatc aacaagtcct caatcaacaa gtcctactga
     2581 ctgcacatct taaatatatc tttatcagtc cacaagtcct tccaattata tttcccaagt
     2641 atatctagaa cttatccact tatatcccca ctgctactac cttagtttag ggctatattc
     2701 tcttgaaaaa aagtgtcctt acttcctgcc aatccccaag tcatcttcca gagtaaaatg
     2761 caaatcccat caggccactt ggatgaaaac ccttcaagga ttactggata gaattcaggc
     2821 tttcccctcc agcccccaat catagctcac aaaccttcct tgctatttgt tcttaagtaa
     2881 aaaatcattt ttcctcctcc ctccccaaac cccaaggaac tctcactctt gctcaagctg
     2941 ttccgtcccc ttaccacccc tgatacaact gccaggttaa tttccagaat tcttgcaaga
     3001 ctcagttcag aagtcacctt ctttcgtgaa tgttttgatt ccctgaggct actttatttt
     3061 ggtatggctg aaaaatccta gattttctaa acaaaacctg tttgaatctt ggttctgata
     3121 tggactagga gagagactgg gtcaagtaag cttatctccc tgaggctgtt tcctcgtctg
     3181 ttaagtgtga atatcaatac ctgcctttca taatcaccag ggaataaagt ggaataatgt
     3241 tgataacagt gcttggcacc tggaagtagg tggcagatgt taacgccctt cctcccttgc
     3301 actgcgcccc ctgtgcctac ctctagcatt gtaacgacca cgtagtattg aaatggccag
     3361 tttacttgtc tgccttcctt tccaagaccg ttggtgccta gaggactaga atcgtgtcct
     3421 atttaacttt gtgttcccag gtcctagctc aggagttggc aaataagaat taaatgtctg
     3481 ctacaccgaa aa
//
LOCUS       NM_000392               5806 bp    mRNA    linear   PRI 17-APR-2023
DEFINITION  Homo sapiens ATP binding cassette subfamily C member 2 (ABCC2),
            mRNA.
ACCESSION   NM_000392
VERSION     NM_000392.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5806)
  AUTHORS   Barnett-Griness O, Rennert G, Lejbkowicz F, Pinchev M, Saliba W and
            Gronich N.
  TITLE     Association Between ABCG2, ABCB1, ABCC2 Efflux Transporter
            Single-Nucleotide Variants and Irinotecan Adverse Effects in
            Patients With Colorectal Cancer: A Real-Life Study
  JOURNAL   Clin Pharmacol Ther 113 (3), 704-711 (2023)
   PUBMED   36537755
  REMARK    GeneRIF: Association Between ABCG2, ABCB1, ABCC2 Efflux Transporter
            Single-Nucleotide Variants and Irinotecan Adverse Effects in
            Patients With Colorectal Cancer: A Real-Life Study.
REFERENCE   2  (bases 1 to 5806)
  AUTHORS   Sharma P, Singh N and Sharma S.
  TITLE     Genetic variations in ABC transporter genes as a predictive
            biomarker for toxicity in North Indian lung cancer patients
            undergoing platinum-based doublet chemotherapy
  JOURNAL   J Biochem Mol Toxicol 37 (3), e23269 (2023)
   PUBMED   36507589
  REMARK    GeneRIF: Genetic variations in ABC transporter genes as a predictive
            biomarker for toxicity in North Indian lung cancer patients
            undergoing platinum-based doublet chemotherapy.
REFERENCE   3  (bases 1 to 5806)
  AUTHORS   Li M, Kong XY and Wang SM.
  TITLE     Effects of splicing-regulatory polymorphisms in ABCC2, ABCG2, and
            ABCB1 on methotrexate exposure in Chinese children with acute
            lymphoblastic leukemia
  JOURNAL   Cancer Chemother Pharmacol 91 (1), 77-87 (2023)
   PUBMED   36463535
  REMARK    GeneRIF: Effects of splicing-regulatory polymorphisms in ABCC2,
            ABCG2, and ABCB1 on methotrexate exposure in Chinese children with
            acute lymphoblastic leukemia.
REFERENCE   4  (bases 1 to 5806)
  AUTHORS   Zhou TC, Li X, Li H, Liu FW, Zhang SH, Fan JH, Yang WX, Yang YL,
            Zhang L and Wei J.
  TITLE     Concurrence of novel mutations causing Gilbert's and Dubin-Johnson
            syndrome with poor clinical outcomes in a Han Chinese family
  JOURNAL   J Hum Genet 68 (1), 17-23 (2023)
   PUBMED   36274106
  REMARK    GeneRIF: Concurrence of novel mutations causing Gilbert's and
            Dubin-Johnson syndrome with poor clinical outcomes in a Han Chinese
            family.
REFERENCE   5  (bases 1 to 5806)
  AUTHORS   Zhang Y, Zhao T, Li W and Vore M.
  TITLE     The 5'-untranslated region of multidrug resistance associated
            protein 2 (MRP2; ABCC2) regulates downstream open reading frame
            expression through translational regulation
  JOURNAL   Mol Pharmacol 77 (2), 237-246 (2010)
   PUBMED   19890061
  REMARK    GeneRIF: The 5'-untranslated region of MRP2 markedly influences MRP2
            mRNA translation regulation.
REFERENCE   6  (bases 1 to 5806)
  AUTHORS   Tanaka T, Uchiumi T, Hinoshita E, Inokuchi A, Toh S, Wada M, Takano
            H, Kohno K and Kuwano M.
  TITLE     The human multidrug resistance protein 2 gene: functional
            characterization of the 5'-flanking region and expression in hepatic
            cells
  JOURNAL   Hepatology 30 (6), 1507-1512 (1999)
   PUBMED   10573531
REFERENCE   7  (bases 1 to 5806)
  AUTHORS   Allikmets R, Gerrard B, Hutchinson A and Dean M.
  TITLE     Characterization of the human ABC superfamily: isolation and mapping
            of 21 new genes using the expressed sequence tags database
  JOURNAL   Hum Mol Genet 5 (10), 1649-1655 (1996)
   PUBMED   8894702
REFERENCE   8  (bases 1 to 5806)
  AUTHORS   Taniguchi K, Wada M, Kohno K, Nakamura T, Kawabe T, Kawakami M,
            Kagotani K, Okumura K, Akiyama S and Kuwano M.
  TITLE     A human canalicular multispecific organic anion transporter (cMOAT)
            gene is overexpressed in cisplatin-resistant human cancer cell lines
            with decreased drug accumulation
  JOURNAL   Cancer Res 56 (18), 4124-4129 (1996)
   PUBMED   8797578
REFERENCE   9  (bases 1 to 5806)
  AUTHORS   Buchler M, Konig J, Brom M, Kartenbeck J, Spring H, Horie T and
            Keppler D.
  TITLE     cDNA cloning of the hepatocyte canalicular isoform of the multidrug
            resistance protein, cMrp, reveals a novel conjugate export pump
            deficient in hyperbilirubinemic mutant rats
  JOURNAL   J Biol Chem 271 (25), 15091-15098 (1996)
   PUBMED   8662992
REFERENCE   10  (bases 1 to 5806)
  AUTHORS   Mayer R, Kartenbeck J, Buchler M, Jedlitschky G, Leier I and Keppler
            D.
  TITLE     Expression of the MRP gene-encoded conjugate export pump in liver
            and its selective absence from the canalicular membrane in
            transport-deficient mutant hepatocytes
  JOURNAL   J Cell Biol 131 (1), 137-150 (1995)
   PUBMED   7559771
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853560.4000.1, U49248.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000647814.1/ ENSP00000497274.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            regulatory uORF             :: PMID: 19890061
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133353.6, U49248.1, U63970.1
            and AL392107.17.
            This sequence is a reference standard in the RefSeqGene project.
            On May 10, 2018 this sequence version replaced NM_000392.4.
            Summary: The protein encoded by this gene is a member of the
            superfamily of ATP-binding cassette (ABC) transporters. ABC
            proteins transport various molecules across extra- and
            intra-cellular membranes. ABC genes are divided into seven distinct
            subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This
            protein is a member of the MRP subfamily which is involved in
            multi-drug resistance. This protein is expressed in the canalicular
            (apical) part of the hepatocyte and functions in biliary transport.
            Substrates include anticancer drugs such as vinblastine; therefore,
            this protein appears to contribute to drug resistance in mammalian
            cells. Several different mutations in this gene have been observed
            in patients with Dubin-Johnson syndrome (DJS), an autosomal
            recessive disorder characterized by conjugated hyperbilirubinemia.
            [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5806
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     gene            1..5806
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="ATP binding cassette subfamily C member 2"
                     /db_xref="GeneID:1244"
                     /db_xref="HGNC:HGNC:53"
                     /db_xref="MIM:601107"
     regulatory      101..169
                     /regulatory_class="uORF"
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:19890061]"
                     /note="this uORF is predicted to encode a 22 aa peptide
                     (PMID:19890061)"
     misc_feature    170..172
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="upstream in-frame stop codon"
     CDS             206..4843
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /EC_number="7.6.2.2"
                     /EC_number="7.6.2.3"
                     /note="canalicular multispecific organic anion transporter
                     1; canalicular multidrug resistance protein; multidrug
                     resistance-associated protein 2; ATP-binding cassette,
                     sub-family C (CFTR/MRP), member 2"
                     /codon_start=1
                     /product="ATP-binding cassette sub-family C member 2"
                     /protein_id="NP_000383.2"
                     /db_xref="CCDS:CCDS7484.1"
                     /db_xref="GeneID:1244"
                     /db_xref="HGNC:HGNC:53"
                     /db_xref="MIM:601107"
                     /translation="MLEKFCNSTFWNSSFLDSPEADLPLCFEQTVLVWIPLGYLWLLAP
                     WQLLHVYKSRTKRSSTTKLYLAKQVFVGFLLILAAIELALVLTEDSGQATVPAVRYTNP
                     SLYLGTWLLVLLIQYSRQWCVQKNSWFLSLFWILSILCGTFQFQTLIRTLLQGDNSNLA
                     YSCLFFISYGFQILILIFSAFSENNESSNNPSSIASFLSSITYSWYDSIILKGYKRPLT
                     LEDVWEVDEEMKTKTLVSKFETHMKRELQKARRALQRRQEKSSQQNSGARLPGLNKNQS
                     QSQDALVLEDVEKKKKKSGTKKDVPKSWLMKALFKTFYMVLLKSFLLKLVNDIFTFVSP
                     QLLKLLISFASDRDTYLWIGYLCAILLFTAALIQSFCLQCYFQLCFKLGVKVRTAIMAS
                     VYKKALTLSNLARKEYTVGETVNLMSVDAQKLMDVTNFMHMLWSSVLQIVLSIFFLWRE
                     LGPSVLAGVGVMVLVIPINAILSTKSKTIQVKNMKNKDKRLKIMNEILSGIKILKYFAW
                     EPSFRDQVQNLRKKELKNLLAFSQLQCVVIFVFQLTPVLVSVVTFSVYVLVDSNNILDA
                     QKAFTSITLFNILRFPLSMLPMMISSMLQASVSTERLEKYLGGDDLDTSAIRHDCNFDK
                     AMQFSEASFTWEHDSEATVRDVNLDIMAGQLVAVIGPVGSGKSSLISAMLGEMENVHGH
                     ITIKGTTAYVPQQSWIQNGTIKDNILFGTEFNEKRYQQVLEACALLPDLEMLPGGDLAE
                     IGEKGINLSGGQKQRISLARATYQNLDIYLLDDPLSAVDAHVGKHIFNKVLGPNGLLKG
                     KTRLLVTHSMHFLPQVDEIVVLGNGTIVEKGSYSALLAKKGEFAKNLKTFLRHTGPEEE
                     ATVHDGSEEEDDDYGLISSVEEIPEDAASITMRRENSFRRTLSRSSRSNGRHLKSLRNS
                     LKTRNVNSLKEDEELVKGQKLIKKEFIETGKVKFSIYLEYLQAIGLFSIFFIILAFVMN
                     SVAFIGSNLWLSAWTSDSKIFNSTDYPASQRDMRVGVYGALGLAQGIFVFIAHFWSAFG
                     FVHASNILHKQLLNNILRAPMRFFDTTPTGRIVNRFAGDISTVDDTLPQSLRSWITCFL
                     GIISTLVMICMATPVFTIIVIPLGIIYVSVQMFYVSTSRQLRRLDSVTRSPIYSHFSET
                     VSGLPVIRAFEHQQRFLKHNEVRIDTNQKCVFSWITSNRWLAIRLELVGNLTVFFSALM
                     MVIYRDTLSGDTVGFVLSNALNITQTLNWLVRMTSEIETNIVAVERITEYTKVENEAPW
                     VTDKRPPPDWPSKGKIQFNNYQVRYRPELDLVLRGITCDIGSMEKIGVVGRTGAGKSSL
                     TNCLFRILEAAGGQIIIDGVDIASIGLHDLREKLTIIPQDPILFSGSLRMNLDPFNNYS
                     DEEIWKALELAHLKSFVASLQLGLSHEVTEAGGNLSIGQRQLLCLGRALLRKSKILVLD
                     EATAAVDLETDNLIQTTIQNEFAHCTVITIAHRLHTIMDSDKVMVLDNGKIIECGSPEE
                     LLQIPGPFYFMAKEAGIENVNSTKF"
     misc_feature    224..226
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92887.3); glycosylation site"
     misc_feature    239..241
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92887.3); glycosylation site"
     misc_feature    287..349
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    410..472
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    485..547
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    584..646
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    701..763
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    962..1057
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1046..1048
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q63120; propagated from
                     UniProtKB/Swiss-Prot (Q92887.3); phosphorylation site"
     misc_feature    1052..1054
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q92887.3); phosphorylation site"
     misc_feature    1145..1207
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    1286..1348
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    1517..1579
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    1589..1651
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    1838..1900
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    1967..2029
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    2837..2839
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92887.3); phosphorylation site"
     misc_feature    2981..2983
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92887.3); phosphorylation site"
     misc_feature    2993..2995
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92887.3); phosphorylation site"
     misc_feature    3017..3019
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92887.3); phosphorylation site"
     misc_feature    3119..3181
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    3236..3238
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92887.3); glycosylation site"
     misc_feature    3305..3367
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    3497..3559
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    3563..3625
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    3839..3901
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    3908..3970
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92887.3);
                     transmembrane region"
     misc_feature    4517..4519
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92887.3); phosphorylation site"
     regulatory      5765..5770
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="hexamer: ATTATA"
     polyA_site      5788
                     /gene="ABCC2"
                     /gene_synonym="ABC30; CMOAT; cMRP; DJS; MRP2"
                     /note="major polyA site"
ORIGIN
        1 agtcacatgt ccatccactg tttcaatgta acatgcatct aggcaaggtt aacgattaaa
       61 tggttgggat gaaaggtcat cctttacgga gaacatcaga atggtagata attcctgttc
      121 cactttcttt gatgaaacaa gtaaagaaga aacaacacaa tcatattaat agaagagtct
      181 tcgttccaga cgcagtccag gaatcatgct ggagaagttc tgcaactcta ctttttggaa
      241 ttcctcattc ctggacagtc cggaggcaga cctgccactt tgttttgagc aaactgttct
      301 ggtgtggatt cccttgggct acctatggct cctggccccc tggcagcttc tccacgtgta
      361 taaatccagg accaagagat cctctaccac caaactctat cttgctaagc aggtattcgt
      421 tggttttctt cttattctag cagccataga gctggccctt gtactcacag aagactctgg
      481 acaagccaca gtccctgctg ttcgatatac caatccaagc ctctacctag gcacatggct
      541 cctggttttg ctgatccaat acagcagaca atggtgtgta cagaaaaact cctggttcct
      601 gtccctattc tggattctct cgatactctg tggcactttc caatttcaga ctctgatccg
      661 gacactctta cagggtgaca attctaatct agcctactcc tgcctgttct tcatctccta
      721 cggattccag atcctgatcc tgatcttttc agcattttca gaaaataatg agtcatcaaa
      781 taatccatca tccatagctt cattcctgag tagcattacc tacagctggt atgacagcat
      841 cattctgaaa ggctacaagc gtcctctgac actcgaggat gtctgggaag ttgatgaaga
      901 gatgaaaacc aagacattag tgagcaagtt tgaaacgcac atgaagagag agctgcagaa
      961 agccaggcgg gcactccaga gacggcagga gaagagctcc cagcagaact ctggagccag
     1021 gctgcctggc ttgaacaaga atcagagtca aagccaagat gcccttgtcc tggaagatgt
     1081 tgaaaagaaa aaaaagaagt ctgggaccaa aaaagatgtt ccaaaatcct ggttgatgaa
     1141 ggctctgttc aaaactttct acatggtgct cctgaaatca ttcctactga agctagtgaa
     1201 tgacatcttc acgtttgtga gtcctcagct gctgaaattg ctgatctcct ttgcaagtga
     1261 ccgtgacaca tatttgtgga ttggatatct ctgtgcaatc ctcttattca ctgcggctct
     1321 cattcagtct ttctgccttc agtgttattt ccaactgtgc ttcaagctgg gtgtaaaagt
     1381 acggacagct atcatggctt ctgtatataa gaaggcattg accctatcca acttggccag
     1441 gaaggagtac accgttggag aaacagtgaa cctgatgtct gtggatgccc agaagctcat
     1501 ggatgtgacc aacttcatgc acatgctgtg gtcaagtgtt ctacagattg tcttatctat
     1561 cttcttccta tggagagagt tgggaccctc agtcttagca ggtgttgggg tgatggtgct
     1621 tgtaatccca attaatgcga tactgtccac caagagtaag accattcagg tcaaaaatat
     1681 gaagaataaa gacaaacgtt taaagatcat gaatgagatt cttagtggaa tcaagatcct
     1741 gaaatatttt gcctgggaac cttcattcag agaccaagta caaaacctcc ggaagaaaga
     1801 gctcaagaac ctgctggcct ttagtcaact acagtgtgta gtaatattcg tcttccagtt
     1861 aactccagtc ctggtatctg tggtcacatt ttctgtttat gtcctggtgg atagcaacaa
     1921 tattttggat gcacaaaagg ccttcacctc cattaccctc ttcaatatcc tgcgctttcc
     1981 cctgagcatg cttcccatga tgatctcctc catgctccag gccagtgttt ccacagagcg
     2041 gctagagaag tacttgggag gggatgactt ggacacatct gccattcgac atgactgcaa
     2101 ttttgacaaa gccatgcagt tttctgaggc ctcctttacc tgggaacatg attcggaagc
     2161 cacagtccga gatgtgaacc tggacattat ggcaggccaa cttgtggctg tgataggccc
     2221 tgtcggctct gggaaatcct ccttgatatc agccatgctg ggagaaatgg aaaatgtcca
     2281 cgggcacatc accatcaagg gcaccactgc ctatgtccca cagcagtcct ggattcagaa
     2341 tggcaccata aaggacaaca tcctttttgg aacagagttt aatgaaaaga ggtaccagca
     2401 agtactggag gcctgtgctc tcctcccaga cttggaaatg ctgcctggag gagatttggc
     2461 tgagattgga gagaagggta taaatcttag tgggggtcag aagcagcgga tcagcctggc
     2521 cagagctacc taccaaaatt tagacatcta tcttctagat gaccccctgt ctgcagtgga
     2581 tgctcatgta ggaaaacata tttttaataa ggtcttgggc cccaatggcc tgttgaaagg
     2641 caagactcga ctcttggtta cacatagcat gcactttctt cctcaagtgg atgagattgt
     2701 agttctgggg aatggaacaa ttgtagagaa aggatcctac agtgctctcc tggccaaaaa
     2761 aggagagttt gctaagaatc tgaagacatt tctaagacat acaggccctg aagaggaagc
     2821 cacagtccat gatggcagtg aagaagaaga cgatgactat gggctgatat ccagtgtgga
     2881 agagatcccc gaagatgcag cctccataac catgagaaga gagaacagct ttcgtcgaac
     2941 acttagccgc agttctaggt ccaatggcag gcatctgaag tccctgagaa actccttgaa
     3001 aactcggaat gtgaatagcc tgaaggaaga cgaagaacta gtgaaaggac aaaaactaat
     3061 taagaaggaa ttcatagaaa ctggaaaggt gaagttctcc atctacctgg agtacctaca
     3121 agcaatagga ttgttttcga tattcttcat catccttgcg tttgtgatga attctgtggc
     3181 ttttattgga tccaacctct ggctcagtgc ttggaccagt gactctaaaa tcttcaatag
     3241 caccgactat ccagcatctc agagggacat gagagttgga gtctacggag ctctgggatt
     3301 agcccaaggt atatttgtgt tcatagcaca tttctggagt gcctttggtt tcgtccatgc
     3361 atcaaatatc ttgcacaagc aactgctgaa caatatcctt cgagcaccta tgagattttt
     3421 tgacacaaca cccacaggcc ggattgtgaa caggtttgcc ggcgatattt ccacagtgga
     3481 tgacaccctg cctcagtcct tgcgcagctg gattacatgc ttcctgggga taatcagcac
     3541 ccttgtcatg atctgcatgg ccactcctgt cttcaccatc atcgtcattc ctcttggcat
     3601 tatttatgta tctgttcaga tgttttatgt gtctacctcc cgccagctga ggcgtctgga
     3661 ctctgtcacc aggtccccaa tctactctca cttcagcgag accgtatcag gtttgccagt
     3721 tatccgtgcc tttgagcacc agcagcgatt tctgaaacac aatgaggtga ggattgacac
     3781 caaccagaaa tgtgtctttt cctggatcac ctccaacagg tggcttgcaa ttcgcctgga
     3841 gctggttggg aacctgactg tcttcttttc agccttgatg atggttattt atagagatac
     3901 cctaagtggg gacactgttg gctttgttct gtccaatgca ctcaatatca cacaaaccct
     3961 gaactggctg gtgaggatga catcagaaat agagaccaac attgtggctg ttgagcgaat
     4021 aactgagtac acaaaagtgg aaaatgaggc accctgggtg actgataaga ggcctccgcc
     4081 agattggccc agcaaaggca agatccagtt taacaactac caagtgcggt accgacctga
     4141 gctggatctg gtcctcagag ggatcacttg tgacatcggt agcatggaga agattggtgt
     4201 ggtgggcagg acaggagctg gaaagtcatc cctcacaaac tgcctcttca gaatcttaga
     4261 ggctgccggt ggtcagatta tcattgatgg agtagatatt gcttccattg ggctccacga
     4321 cctccgagag aagctgacca tcatccccca ggaccccatc ctgttctctg gaagcctgag
     4381 gatgaatctc gaccctttca acaactactc agatgaggag atttggaagg ccttggagct
     4441 ggctcacctc aagtcttttg tggccagcct gcaacttggg ttatcccacg aagtgacaga
     4501 ggctggtggc aacctgagca taggccagag gcagctgctg tgcctgggca gggctctgct
     4561 tcggaaatcc aagatcctgg tcctggatga ggccactgct gcggtggatc tagagacaga
     4621 caacctcatt cagacgacca tccaaaacga gttcgcccac tgcacagtga tcaccatcgc
     4681 ccacaggctg cacaccatca tggacagtga caaggtaatg gtcctagaca acgggaagat
     4741 tatagagtgc ggcagccctg aagaactgct acaaatccct ggaccctttt actttatggc
     4801 taaggaagct ggcattgaga atgtgaacag cacaaaattc tagcagaagg ccccatgggt
     4861 tagaaaagga ctataagaat aatttcttat ttaattttat tttttataaa atacagaata
     4921 catacaaaag tgtgtataaa atgtacgttt taaaaaagga taagtgaaca cccatgaacc
     4981 tactacccag gttaagaaaa taaatgtcac caggtacttg agaaacccct cgattgtcta
     5041 cctcgatcgt acttccttgc tacccacccc tcccagggac aaccactgtc ctgaatttca
     5101 cgataattat tcctttgcct ttcatttctg ttttatcacc tttgtatgta tctttaaaca
     5161 acatataccc ttttttactt atgtaaatgg actgactcat actgcataca tcttctatga
     5221 cttgattctt ttgttcaata ttatatctga gattcatcca tggtgatgca aataggtgca
     5281 ttattttttt tcactgctct gtagtctggc attgtatgaa tacagcacaa tgtatcagtt
     5341 ttaatattgg ggatcattag cattattctc aggtttttaa aaattataag cagtactact
     5401 atggacattc tggtctacat ctcctggcac atatgtaaga gtttctctag ggtataacct
     5461 aggaatggag ggtatgaaca tgtttacatg cacaaactag ctgatgccaa actggtaatg
     5521 ccaactgaaa acattgctgt caatctgatg aatatgaatt gatgtatcaa tgagaatttc
     5581 atttgcattt ccctagtatc tattggggat gaatatattt tcatgtttct ggggcatttg
     5641 catttccact tgttttttaa atattgtgtc tgataattcc aatgtctgga ttctttgttt
     5701 atctgttgtt tctgttggtt tttactcatg gtattttatt tccttgtatg tcttgtgaat
     5761 ttttattata agctcgttct ccttaaaact ttatctgtgg acattc
//
LOCUS       NM_000393               6829 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens collagen type V alpha 2 chain (COL5A2), mRNA.
ACCESSION   NM_000393
VERSION     NM_000393.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6829)
  AUTHORS   Li X, Zhang Q, Yu SM and Li Y.
  TITLE     The Chemistry and Biology of Collagen Hybridization
  JOURNAL   J Am Chem Soc 145 (20), 10901-10916 (2023)
   PUBMED   37158802
  REMARK    Review article
REFERENCE   2  (bases 1 to 6829)
  AUTHORS   Guo X, Bu X, Yuan L and Ji L.
  TITLE     Collagen type V alpha 2 promotes the development of gastric cancer
            via M2 macrophage polarization
  JOURNAL   Chin J Physiol 66 (2), 93-102 (2023)
   PUBMED   37082997
  REMARK    GeneRIF: Collagen type V alpha 2 promotes the development of gastric
            cancer via M2 macrophage polarization.
REFERENCE   3  (bases 1 to 6829)
  AUTHORS   Kempers MJ, Wessels M, Van Berendoncks A, van de Laar IM, de Leeuw N
            and Loeys B.
  TITLE     Phenotype of COL3A1/COL5A2 deletion patients
  JOURNAL   Eur J Med Genet 65 (10), 104593 (2022)
   PUBMED   35964930
  REMARK    GeneRIF: Phenotype of COL3A1/COL5A2 deletion patients.
REFERENCE   4  (bases 1 to 6829)
  AUTHORS   Zhu J, Tu S and Qu Q.
  TITLE     lncRNA BZRAP1-AS1 alleviates rheumatoid arthritis by regulating
            miR-1286/COL5A2 axis
  JOURNAL   Immun Inflamm Dis 10 (2), 163-174 (2022)
   PUBMED   34766472
  REMARK    GeneRIF: lncRNA BZRAP1-AS1 alleviates rheumatoid arthritis by
            regulating miR-1286/COL5A2 axis.
REFERENCE   5  (bases 1 to 6829)
  AUTHORS   Urbizu A, Garrett ME, Soldano K, Drechsel O, Loth D, Marce-Grau A,
            Mestres I Soler O, Poca MA, Ossowski S, Macaya A, Loth F, Labuda R
            and Ashley-Koch A.
  TITLE     Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and
            COL5A2 frequently occur in Chiari Malformation Type 1
  JOURNAL   PLoS One 16 (5), e0251289 (2021)
   PUBMED   33974636
  REMARK    GeneRIF: Rare functional genetic variants in COL7A1, COL6A5, COL1A2
            and COL5A2 frequently occur in Chiari Malformation Type 1.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 6829)
  AUTHORS   Malfait,F., Wenstrup,R. and De Paepe,A.
  TITLE     Classic Ehlers-Danlos Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301422
REFERENCE   7  (bases 1 to 6829)
  AUTHORS   Mann K.
  TITLE     Isolation of the alpha 3-chain of human type V collagen and
            characterization by partial sequencing
  JOURNAL   Biol Chem Hoppe Seyler 373 (2), 69-75 (1992)
   PUBMED   1571108
REFERENCE   8  (bases 1 to 6829)
  AUTHORS   Greenspan DS, Lee ST, Lee BS and Hoffman GG.
  TITLE     Homology between alpha 2(V) and alpha 1(III) collagen promoters and
            evidence for negatively acting elements in the alpha 2(V) first
            intron and 5' flanking sequences
  JOURNAL   Gene Expr 1 (1), 29-39 (1991)
   PUBMED   1820205
REFERENCE   9  (bases 1 to 6829)
  AUTHORS   Greenspan DS, Hoffman GG and Lee BS.
  TITLE     High levels of expression of full length human pro-alpha 2(V)
            collagen cDNA in pro-alpha 2(V)-deficient hamster cells
  JOURNAL   J Biol Chem 264 (34), 20683-20687 (1989)
   PUBMED   2584236
REFERENCE   10  (bases 1 to 6829)
  AUTHORS   Myers,J.C., Loidl,H.R., Seyer,J.M. and Dion,A.S.
  TITLE     Complete primary structure of the human alpha 2 type V procollagen
            COOH-terminal propeptide
  JOURNAL   J Biol Chem 260 (20), 11216-11222 (1985)
   PUBMED   2411731
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB209045.1, SRR14038196.2911509.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374866.9/ ENSP00000364000.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL552427.3, AC133106.3,
            J04478.1 and AB209045.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000393.4.
            Summary: This gene encodes an alpha chain for one of the low
            abundance fibrillar collagens. Fibrillar collagen molecules are
            trimers that can be composed of one or more types of alpha chains.
            Type V collagen is found in tissues containing type I collagen and
            appears to regulate the assembly of heterotypic fibers composed of
            both type I and type V collagen. This gene product is closely
            related to type XI collagen and it is possible that the collagen
            chains of types V and XI constitute a single collagen type with
            tissue-specific chain combinations. Mutations in this gene are
            associated with Ehlers-Danlos syndrome, types I and II. [provided
            by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6829
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     gene            1..6829
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="collagen type V alpha 2 chain"
                     /db_xref="GeneID:1290"
                     /db_xref="HGNC:HGNC:2210"
                     /db_xref="MIM:120190"
     misc_feature    146..148
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="upstream in-frame stop codon"
     CDS             158..4657
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="AB collagen; collagen, fetal membrane, A
                     polypeptide; collagen alpha-2(V) chain; type V
                     preprocollagen alpha 2 chain"
                     /codon_start=1
                     /product="collagen alpha-2(V) chain preproprotein"
                     /protein_id="NP_000384.2"
                     /db_xref="CCDS:CCDS33350.1"
                     /db_xref="GeneID:1290"
                     /db_xref="HGNC:HGNC:2210"
                     /db_xref="MIM:120190"
                     /translation="MMANWAEARPLLILIVLLGQFVSIKAQEEDEDEGYGEEIACTQNG
                     QMYLNRDIWKPAPCQICVCDNGAILCDKIECQDVLDCADPVTPPGECCPVCSQTPGGGN
                     TNFGRGRKGQKGEPGLVPVVTGIRGRPGPAGPPGSQGPRGERGPKGRPGPRGPQGIDGE
                     PGVPGQPGAPGPPGHPSHPGPDGLSRPFSAQMAGLDEKSGLGSQVGLMPGSVGPVGPRG
                     PQGLQGQQGGAGPTGPPGEPGDPGPMGPIGSRGPEGPPGKPGEDGEPGRNGNPGEVGFA
                     GSPGARGFPGAPGLPGLKGHRGHKGLEGPKGEVGAPGSKGEAGPTGPMGAMGPLGPRGM
                     PGERGRLGPQGAPGQRGAHGMPGKPGPMGPLGIPGSSGFPGNPGMKGEAGPTGARGPEG
                     PQGQRGETGPPGPVGSPGLPGAIGTDGTPGAKGPTGSPGTSGPPGSAGPPGSPGPQGST
                     GPQGIRGQPGDPGVPGFKGEAGPKGEPGPHGIQGPIGPPGEEGKRGPRGDPGTVGPPGP
                     VGERGAPGNRGFPGSDGLPGPKGAQGERGPVGSSGPKGSQGDPGRPGEPGLPGARGLTG
                     NPGVQGPEGKLGPLGAPGEDGRPGPPGSIGIRGQPGSMGLPGPKGSSGDPGKPGEAGNA
                     GVPGQRGAPGKDGEVGPSGPVGPPGLAGERGEQGPPGPTGFQGLPGPPGPPGEGGKPGD
                     QGVPGDPGAVGPLGPRGERGNPGERGEPGITGLPGEKGMAGGHGPDGPKGSPGPSGTPG
                     DTGPPGLQGMPGERGIAGTPGPKGDRGGIGEKGAEGTAGNDGARGLPGPLGPPGPAGPT
                     GEKGEPGPRGLVGPPGSRGNPGSRGENGPTGAVGFAGPQGPDGQPGVKGEPGEPGQKGD
                     AGSPGPQGLAGSPGPHGPNGVPGLKGGRGTQGPPGATGFPGSAGRVGPPGPAGAPGPAG
                     PLGEPGKEGPPGLRGDPGSHGRVGDRGPAGPPGGPGDKGDPGEDGQPGPDGPPGPAGTT
                     GQRGIVGMPGQRGERGMPGLPGPAGTPGKVGPTGATGDKGPPGPVGPPGSNGPVGEPGP
                     EGPAGNDGTPGRDGAVGERGDRGDPGPAGLPGSQGAPGTPGPVGAPGDAGQRGDPGSRG
                     PIGPPGRAGKRGLPGPQGPRGDKGDHGDRGDRGQKGHRGFTGLQGLPGPPGPNGEQGSA
                     GIPGPFGPRGPPGPVGPSGKEGNPGPLGPIGPPGVRGSVGEAGPEGPPGEPGPPGPPGP
                     PGHLTAALGDIMGHYDESMPDPLPEFTEDQAAPDDKNKTDPGVHATLKSLSSQIETMRS
                     PDGSKKHPARTCDDLKLCHSAKQSGEYWIDPNQGSVEDAIKVYCNMETGETCISANPSS
                     VPRKTWWASKSPDNKPVWYGLDMNRGSQFAYGDHQSPNTAITQMTFLRLLSKEASQNIT
                     YICKNSVGYMDDQAKNLKKAVVLKGANDLDIKAEGNIRFRYIVLQDTCSKRNGNVGKTV
                     FEYRTQNVARLPIIDLAPVDVGGTDQEFGVEIGPVCFV"
     sig_peptide     158..235
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     236..3844
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /product="Collagen alpha-2(V) chain. /id=PRO_0000005830"
                     /note="propagated from UniProtKB/Swiss-Prot (P05997.3)"
     misc_feature    467..3961
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05997.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1025..1027
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P05997.3); hydroxylation site"
     misc_feature    1034..1036
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P05997.3); hydroxylation site"
     misc_feature    1043..1045
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P05997.3); hydroxylation site"
     misc_feature    1673..1681
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05997.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    1988..1990
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P05997.3); hydroxylation site"
     misc_feature    2006..2008
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:8181482; propagated from
                     UniProtKB/Swiss-Prot (P05997.3); hydroxylation site"
     misc_feature    2912..2914
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="3-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:21757687; propagated from
                     UniProtKB/Swiss-Prot (P05997.3); hydroxylation site"
     misc_feature    2987..2995
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05997.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    3356..3364
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05997.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    3365..3373
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05997.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    3455..3463
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05997.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    3536..3544
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05997.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    3563..3571
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05997.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    3623..3625
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="3-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:21757687; propagated from
                     UniProtKB/Swiss-Prot (P05997.3); hydroxylation site"
     misc_feature    3941..3943
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P05997.3); glycosylation site"
     misc_feature    4355..4357
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P05997.3); glycosylation site"
     regulatory      6188..6193
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="hexamer: ATTAAA"
     polyA_site      6213
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="major polyA site"
     regulatory      6485..6490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="hexamer: AATAAA"
     regulatory      6498..6503
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="hexamer: AATAAA"
     polyA_site      6504
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
     polyA_site      6522
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
     regulatory      6809..6814
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
                     /note="hexamer: AATAAA"
     polyA_site      6829
                     /gene="COL5A2"
                     /gene_synonym="EDSC; EDSCL2"
ORIGIN
        1 gcagactgtg ctggagctgg tgctgaaaaa gggggtttgc agaggctgcc ctggggctgg
       61 tgctgaaaga agagcccaca gctgacttca tggtgctaca ataacctcag aatctacttt
      121 tcactctcag gagaacccac atgtctaata tttagacatg atggcaaact gggcggaagc
      181 aagacctctc ctcattctta ttgttttatt agggcaattt gtctcaataa aagcccagga
      241 agaagacgag gatgaaggat atggtgaaga aatagcctgc actcagaatg gccagatgta
      301 cttaaacagg gacatttgga aacctgcccc ttgtcagatc tgtgtctgtg acaatggagc
      361 cattctctgt gacaagatag aatgccagga tgtgctggac tgtgccgacc ctgtaacgcc
      421 ccctggggaa tgctgtcctg tctgttcaca aacacctgga ggtggcaata ccaattttgg
      481 tagaggaaga aagggacaaa agggagaacc aggattagtg cctgttgtaa caggcatacg
      541 tggtcgtcca ggaccggcag gacctccagg atcacaggga ccaagaggag agcgagggcc
      601 aaaaggaaga cctggccctc gtggacctca gggaattgat ggagaaccag gtgttcctgg
      661 tcaacctggt gctccaggac ctcctggaca tccgtcccac ccaggacccg atggcttgag
      721 caggccgttt tcagctcaaa tggctgggtt ggatgaaaaa tctggacttg ggagtcaagt
      781 aggactaatg cctggctctg tgggtcctgt tggcccaagg ggaccacagg gtttacaagg
      841 acagcaaggt ggtgcaggac ctacaggacc tcctggtgaa cctggtgatc ctggaccaat
      901 gggtccgatt ggttcacgtg gaccagaggg ccctcctggt aaacctgggg aagatggtga
      961 acctggcaga aatggaaatc ctggtgaagt gggatttgca ggatctccgg gagctcgtgg
     1021 atttcctggg gctcctggtc ttccaggtct gaagggtcac cgaggacaca aaggtcttga
     1081 aggccctaaa ggtgaagttg gagcacctgg ttccaagggt gaagctggcc ccactggtcc
     1141 aatgggtgcc atgggtcctc tgggtccgag gggaatgcca ggagagagag ggagacttgg
     1201 gccacagggt gctcctggac aacgaggtgc acatggtatg cctggaaaac ctggaccaat
     1261 gggtcctctt gggataccag gctcttctgg ttttccagga aatcctggaa tgaagggaga
     1321 agcaggtcct acaggggcgc gaggccctga aggtcctcag gggcagagag gtgaaactgg
     1381 gcccccaggt ccagttggct ctccaggtct tcctggtgca ataggaactg atggtactcc
     1441 tggtgccaaa ggcccaacgg gctctccagg tacctctggt cctcctggct cagcagggcc
     1501 tcctggatct ccaggacctc agggtagcac tggtcctcag ggaattcgag gccaaccggg
     1561 tgatccagga gttccaggtt tcaaaggaga agctggccca aaaggggaac cagggccaca
     1621 tggtattcag ggtccgatag gcccacccgg tgaagaaggc aaaagaggtc ccagaggtga
     1681 cccaggaaca gttggtcctc cagggccagt gggagaaagg ggtgctcctg gcaatcgtgg
     1741 ttttccaggc tctgatggtt tacctgggcc aaagggtgct caaggagaac ggggtcctgt
     1801 aggttcttca ggacccaaag gaagccaggg ggatccagga cgtccagggg aacctgggct
     1861 tccaggtgct cggggtttga caggaaatcc tggtgttcaa ggtcctgaag gaaaacttgg
     1921 acctttgggt gcgccagggg aagatggccg tccaggtcct ccaggctcca taggaatcag
     1981 agggcagccc gggagcatgg gccttccagg ccccaaaggt agcagtggtg accctgggaa
     2041 acctggagaa gcaggaaatg ctggagttcc tgggcagagg ggagctcctg gaaaagatgg
     2101 tgaagttggt ccttctggtc ctgtgggccc gccgggtcta gctggtgaaa gaggagaaca
     2161 aggacctcca ggccccacag gttttcaggg gcttcctggt cctccagggc ctcctggaga
     2221 aggtggaaaa ccaggtgatc aaggtgttcc tggagatccc ggagcagttg gcccgttagg
     2281 acctagagga gaacgaggaa atcctgggga aagaggagaa cctgggataa ctggactccc
     2341 tggtgagaag ggaatggctg gaggacatgg tcctgatggc ccaaaaggca gtccaggtcc
     2401 atctgggacc cctggagata caggcccacc aggtcttcaa ggtatgccgg gagaaagagg
     2461 aattgcagga actcctggcc ccaagggtga cagaggtggc ataggagaaa aaggtgctga
     2521 aggcacagct ggaaatgatg gtgcaagagg tcttccaggt cctttgggcc ctccaggtcc
     2581 ggcaggtcct actggagaaa agggtgaacc tggtcctcga ggtttagttg gccctcctgg
     2641 ctcccggggc aatcctggtt ctcgaggtga aaatgggcca actggagctg ttggttttgc
     2701 cggaccccag ggtcctgacg gacagcctgg agtaaaaggt gaacctggag agccaggaca
     2761 gaagggagat gctggttctc ctggaccaca aggtttagca ggatcccctg gccctcatgg
     2821 tcctaatggt gttcctggac taaaaggtgg tcgaggaacc caaggtccgc ctggtgctac
     2881 aggatttcct ggttctgcgg gcagagttgg acctccaggc cctgctggag ctccaggacc
     2941 tgcgggaccc ctaggggaac ccgggaagga gggacctcca ggtcttcgtg gggaccctgg
     3001 ctctcatggg cgtgtgggag atcgaggacc agctggcccc cctggtggcc caggagacaa
     3061 aggggaccca ggagaagatg ggcaacctgg tccagatggc ccccctggtc cagctggaac
     3121 gaccgggcag agaggaattg ttggcatgcc tgggcaacgt ggagagagag gcatgcccgg
     3181 cctaccaggc ccagcgggaa caccaggaaa agtaggacca actggtgcaa caggagataa
     3241 aggtccacct ggacctgtgg ggcccccagg ctccaatggt cctgtagggg aacctggacc
     3301 agaaggtcca gctggcaatg atggtacccc aggacgggat ggtgctgttg gagaacgtgg
     3361 tgatcgtgga gaccctgggc ctgcaggtct gccaggctct cagggtgccc ctggaactcc
     3421 tggccctgtg ggtgctccag gagatgcagg acaaagagga gatccgggtt ctcggggtcc
     3481 tataggacca cctggtcgag ctgggaaacg tggattacct ggaccccaag gacctcgtgg
     3541 tgacaaaggt gatcatggag accgaggtga cagaggtcag aagggccaca gaggctttac
     3601 tggtcttcag ggtcttcctg gccctcctgg tccaaatggt gaacaaggaa gtgctggaat
     3661 ccctggacca tttggcccaa gaggtcctcc aggcccagtt ggtccttcag gtaaagaagg
     3721 aaaccctggg ccacttgggc caattggacc tccaggtgta cgaggcagtg taggagaagc
     3781 aggacctgag ggccctcctg gtgagcctgg cccacctggc cctccgggtc cccctggcca
     3841 ccttacagct gctcttgggg atatcatggg gcactatgat gaaagcatgc cagatccact
     3901 tcctgagttt actgaagatc aggcggctcc tgatgacaaa aacaaaacgg acccaggggt
     3961 tcatgctacc ctgaagtcac tcagtagtca gattgaaacc atgcgcagcc ccgatggctc
     4021 gaaaaagcac ccagcccgca cgtgtgatga cctaaagctt tgccattccg caaagcagag
     4081 tggtgaatac tggattgatc ctaaccaagg atctgttgaa gatgcaatca aagtttactg
     4141 caacatggaa acaggagaaa catgtatttc agcaaaccca tccagtgtac cacgtaaaac
     4201 ctggtgggcc agtaaatctc ctgacaataa acctgtttgg tatggtcttg atatgaacag
     4261 agggtctcag ttcgcttatg gagaccacca atcacctaat acagccatta ctcagatgac
     4321 ttttttgcgc cttttatcaa aagaagcctc ccagaacatc acttacatct gtaaaaacag
     4381 tgtaggatac atggacgatc aagctaagaa cctcaaaaaa gctgtggttc tcaaaggggc
     4441 aaatgactta gatatcaaag cagagggaaa tattagattc cggtatatcg ttcttcaaga
     4501 cacttgctct aagcggaatg gaaatgtggg caagactgtc tttgaatata gaacacagaa
     4561 tgtggcacgc ttgcccatca tagatcttgc tcctgtggat gttggcggca cagaccagga
     4621 attcggcgtt gaaattgggc cagtttgttt tgtgtaaagt aagccaagac acatcgacaa
     4681 tgagcaccac catcaatgac caccgccatt cacaagaact ttgactgttt gaagttgatc
     4741 ctgagactct tgaagtaatg gctgatcctg catcagcatt gtatatatgg tcttaagtgc
     4801 ctggcctcct tatccttcag aatatttatt ttacttacaa tcctcaagtt ttaattgatt
     4861 ttaaatattt ttcaatacaa cagtttaggt ttaagatgac caatgacaat gaccaccttt
     4921 gcagaaagta aactgattga ataaataaat ctccgttttc ttcaatttat ttcagtgtaa
     4981 tgaaaaagtt gcttagtatt tatgaggaaa ttcttcttcc tggcaggtag cttaaagagt
     5041 ggggtatata gagccacaac acatgtttat tttgcttggc tgcagttgaa aaatagaaat
     5101 tagtgccctt ttgtgacctc tcattccaag attgtcaatt aaaaatgagt ttaaaatgtt
     5161 taacttgtga tcgagaccta catgcatgtc ttgatattgt gtaactataa tagagactct
     5221 ttaaggagaa tcttaaaaaa aaaaaaacgt ttctcactgt cttaaataga atttttaaat
     5281 agtatatatt cagtggcatt ttggagaaca aagtgaattt acttcgactt cttaaatttt
     5341 tgtaaaagac tataagttta gacatctttc tcattcaaat ttaaagatat ctttctcctc
     5401 ttgatcaatc tatcaatatt gatagaagtc acactagtat ataccattta atacatttac
     5461 actttcttat ttaagaagat attgaatgca aaataattga catatagaac tttacaaaca
     5521 tatgtccaag gactctaaat tgagactctt ccacatgtac aatctcatca tcctgaagcc
     5581 tataatgaag aaaaagatct agaaactgag ttgtggagct gactctaatc aaatgtgatg
     5641 attggaatta gaccatttgg cctttgaact ttcataggaa aaatgaccca acatttctta
     5701 gcatgagcta cctcatctct agaagctggg atggacttac tattcttgtt tatattttag
     5761 atactgaaag gtgctatgct tctgttatta ttccaagact ggagataggc agggctaaaa
     5821 aggtattatt atttttcctt taatgatggt gctaaaattc ttcctataaa attccttaaa
     5881 aataaagatg gtttaatcac taccattgtg aaaacataac tgttagactt cccgtttctg
     5941 aaagaaagag catcgttcca atgcttgttc actgttcctc tgtcatactg tatctggaat
     6001 gctttgtaat acttgcatgc ttcttagacc agaacatgta ggtccccttg tgtctcaata
     6061 cttttttttt cttaattgca tttgttggct ctattttaat ttttttcttt taaaataaac
     6121 agctgggacc atcccaaaag acaagccatg catacaactt tggtcatgta tctctgcaaa
     6181 gcatcaaatt aaatgcacgc ttttgtcatg tcagtggttt ttgttttgtg aaattccttt
     6241 gaccatatta gatctatttc atttccaata gtgaaaagga gatgtggtgg tatactttgt
     6301 ttgccatttg tttaaaagat acaacggata ccttctatca tgtatgtact ggcttataaa
     6361 tgaaaatcta tctacaacat tacccacaaa ggcaacatga caccaattat cactgcctct
     6421 gcccttaaaa atgtcagagt agtattattg ataaaaaggg caagcaatag atttttcatg
     6481 actgaataaa ctgtaataat aaaacatatg tctcaaagtg tatcacatat gaatttagcc
     6541 taattgtttt cagtttcatt ctcaatattt agtttacaac atcattttcc cctaaactgg
     6601 ttatattttg acctgtatat cttaaatttg agtatttata tgcctaaata catgtgtgag
     6661 ttttgtttga cttccaagtc caaactataa gattatataa gttcatatag atgaatcaga
     6721 aatatgtggt aatactatta agtcacaaac actaacaatt tccaactata gaaataacag
     6781 ttcttatttg gattttggga atgctaccaa taaaagcctg cccagacca
//
LOCUS       NM_000394               1139 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens crystallin alpha A (CRYAA), transcript variant 1, mRNA.
ACCESSION   NM_000394
VERSION     NM_000394.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1139)
  AUTHORS   Ma X, Nan Y, Huang C, Li X, Yang Y, Jiang W, Ye M, Liu Q, Niu Y and
            Yuan L.
  TITLE     Expression of alphaA-crystallin (CRYAA) in vivo and in vitro models
            of age-related cataract and the effect of its silencing on HLEB3
            cells
  JOURNAL   Aging (Albany NY) 15 (10), 4498-4509 (2023)
   PUBMED   37253645
  REMARK    GeneRIF: Expression of alphaA-crystallin (CRYAA) in vivo and in
            vitro models of age-related cataract and the effect of its silencing
            on HLEB3 cells.
REFERENCE   2  (bases 1 to 1139)
  AUTHORS   Zhao Z, Chen J, Yuan W, Jiang Y and Lu Y.
  TITLE     Association between single nucleotide polymorphisms in exon 3 of the
            alpha-A-crystallin gene and susceptibility to age-related cataract
  JOURNAL   Ophthalmic Genet 44 (2), 127-132 (2023)
   PUBMED   36380611
  REMARK    GeneRIF: Association between single nucleotide polymorphisms in exon
            3 of the alpha-A-crystallin gene and susceptibility to age-related
            cataract.
REFERENCE   3  (bases 1 to 1139)
  AUTHORS   Zhao Z, Sun Y, Fan Q, Jiang Y and Lu Y.
  TITLE     Structural and functional analysis of SNP rs76740365 G>A in exon-3
            of the alpha A-crystallin gene in lens epithelial cells
  JOURNAL   Mol Vis 28, 317-330 (2022)
   PUBMED   36338667
  REMARK    GeneRIF: Structural and functional analysis of SNP rs76740365 G>A in
            exon-3 of the alpha A-crystallin gene in lens epithelial cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1139)
  AUTHORS   Zhu XJ, Zhang KK, He WW, Qi J and Lu Y.
  TITLE     Racemization in cataractous lens from diabetic and aging
            individuals: analysis of Asp 58 residue in alphaA-crystallin
  JOURNAL   Aging (Albany NY) 13 (11), 15255-15268 (2021)
   PUBMED   34096886
  REMARK    GeneRIF: Racemization in cataractous lens from diabetic and aging
            individuals: analysis of Asp 58 residue in alphaA-crystallin.
REFERENCE   5  (bases 1 to 1139)
  AUTHORS   Schimansky A and Yadav JK.
  TITLE     Amyloid cross-sequence interaction between Abeta(1-40) and
            alphaA(66-80) in relation to the pathogenesis of cataract
  JOURNAL   Int J Biol Macromol 179, 61-70 (2021)
   PUBMED   33626371
  REMARK    GeneRIF: Amyloid cross-sequence interaction between Abeta(1-40) and
            alphaA(66-80) in relation to the pathogenesis of cataract.
REFERENCE   6  (bases 1 to 1139)
  AUTHORS   Andley UP, Mathur S, Griest TA and Petrash JM.
  TITLE     Cloning, expression, and chaperone-like activity of human
            alphaA-crystallin
  JOURNAL   J Biol Chem 271 (50), 31973-31980 (1996)
   PUBMED   8943244
REFERENCE   7  (bases 1 to 1139)
  AUTHORS   Ortwerth BJ, Slight SH, Prabhakaram M, Sun Y and Smith JB.
  TITLE     Site-specific glycation of lens crystallins by ascorbic acid
  JOURNAL   Biochim Biophys Acta 1117 (2), 207-215 (1992)
   PUBMED   1525182
REFERENCE   8  (bases 1 to 1139)
  AUTHORS   Roquemore EP, Dell A, Morris HR, Panico M, Reason AJ, Savoy LA,
            Wistow GJ, Zigler JS Jr, Earles BJ and Hart GW.
  TITLE     Vertebrate lens alpha-crystallins are modified by O-linked
            N-acetylglucosamine
  JOURNAL   J Biol Chem 267 (1), 555-563 (1992)
   PUBMED   1730617
REFERENCE   9  (bases 1 to 1139)
  AUTHORS   Saida,K., Mendell,J.R. and Sahenk,Z.
  TITLE     Peripheral nerve changes induced by local application of bee venom
  JOURNAL   J Neuropathol Exp Neurol 36 (5), 783-796 (1977)
   PUBMED   894324
  REMARK    GeneRIF: Alpha A crystallin is a moonlighting protein that functions
            as a heat shock protein as well as a lens crystallin.
REFERENCE   10  (bases 1 to 1139)
  AUTHORS   de Jong,W.W., Terwindt,E.C. and Bloemendal,H.
  TITLE     The amino acid sequence of the A chain of human alpha-crystallin
  JOURNAL   FEBS Lett 58 (1), 310-313 (1975)
   PUBMED   817940
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BY794951.2, ERR279841.7247.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2145774 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000291554.6/ ENSP00000291554.2
            multifunctional gene product(s) :: PMID: 8943244
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX118596.1, BC113598.1 and
            BE552434.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000394.3.
            Summary: Mammalian lens crystallins are divided into alpha, beta,
            and gamma families. Alpha crystallins are composed of two gene
            products: alpha-A and alpha-B, for acidic and basic, respectively.
            Alpha crystallins can be induced by heat shock and are members of
            the small heat shock protein (HSP20) family. They act as molecular
            chaperones although they do not renature proteins and release them
            in the fashion of a true chaperone; instead they hold them in large
            soluble aggregates. Post-translational modifications decrease the
            ability to chaperone. These heterogeneous aggregates consist of
            30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio,
            respectively. Two additional functions of alpha crystallins are an
            autokinase activity and participation in the intracellular
            architecture. The encoded protein has been identified as a
            moonlighting protein based on its ability to perform
            mechanistically distinct functions. Alpha-A and alpha-B gene
            products are differentially expressed; alpha-A is preferentially
            restricted to the lens and alpha-B is expressed widely in many
            tissues and organs. Defects in this gene cause autosomal dominant
            congenital cataract (ADCC). [provided by RefSeq, Jan 2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1139
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..1139
                     /gene="CRYAA"
                     /gene_synonym="CRYA1; CTRCT9; HSPB4"
                     /note="crystallin alpha A"
                     /db_xref="GeneID:1409"
                     /db_xref="HGNC:HGNC:2388"
                     /db_xref="MIM:123580"
     CDS             93..614
                     /gene="CRYAA"
                     /gene_synonym="CRYA1; CTRCT9; HSPB4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     crystallin, alpha-1; human alphaA-crystallin (CRYA1); heat
                     shock protein beta-4; alpha-crystallin A chain"
                     /codon_start=1
                     /product="alpha-crystallin A chain isoform 1"
                     /protein_id="NP_000385.1"
                     /db_xref="CCDS:CCDS13695.1"
                     /db_xref="GeneID:1409"
                     /db_xref="HGNC:HGNC:2388"
                     /db_xref="MIM:123580"
                     /translation="MDVTIQHPWFKRTLGPFYPSRLFDQFFGEGLFEYDLLPFLSSTIS
                     PYYRQSLFRTVLDSGISEVRSDRDKFVIFLDVKHFSPEDLTVKVQDDFVEIHGKHNERQ
                     DDHGYISREFHRRYRLPSNVDQSALSCSLSADGMLTFCGPKIQTGLDATHAERAIPVSR
                     EEKPTSAPSS"
     regulatory      1115..1120
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRYAA"
                     /gene_synonym="CRYA1; CTRCT9; HSPB4"
                     /note="hexamer: AATAAA"
     polyA_site      1139
                     /gene="CRYAA"
                     /gene_synonym="CRYA1; CTRCT9; HSPB4"
                     /note="major polyA site"
ORIGIN
        1 agggagggct cggccttggc tccacactgc gctgcccaga ggccccgctg actcctgcca
       61 gcctccaggt ccccgtggta ccaaagctga acatggacgt gaccatccag cacccctggt
      121 tcaagcgcac cctggggccc ttctacccca gccggctgtt cgaccagttt ttcggcgagg
      181 gcctttttga gtatgacctg ctgcccttcc tgtcgtccac catcagcccc tactaccgcc
      241 agtccctctt ccgcaccgtg ctggactccg gcatctctga ggttcgatcc gaccgggaca
      301 agttcgtcat cttcctcgat gtgaagcact tctccccgga ggacctcacc gtgaaggtgc
      361 aggacgactt tgtggagatc cacggaaagc acaacgagcg ccaggacgac cacggctaca
      421 tttcccgtga gttccaccgc cgctaccgcc tgccgtccaa cgtggaccag tcggccctct
      481 cttgctccct gtctgccgat ggcatgctga ccttctgtgg ccccaagatc cagactggcc
      541 tggatgccac ccacgccgag cgagccatcc ccgtgtcgcg ggaggagaag cccacctcgg
      601 ctccctcgtc ctaagcaggc attgcctcgg ctggctcccc tgcagccctg gcccatcatg
      661 gggggagcac cctgagggcg gggtgtctgt cttcctttgc ttcccttttt tcctttccac
      721 cttctcacat ggaatgaggg tttgagagag cagccaggag agcttagggt ctcagggtgt
      781 cccagacccc gacaccggcc agtggcggaa gtgaccgcac ctcacactcc tttagatagc
      841 agcctggctc ccctggggtg caggcgcctc aactctgctg agggtccaga aggagggggt
      901 gacctccggc caggtgcctc ctgacacacc tgcagcctcc ctccgcggcg ggccctgccc
      961 acacctcctg gggcgcgtga ggcccgtggg gccggggctt ctgtgcacct gggctctcgc
     1021 ggcctcttct ctcagaccgt cttcctccaa cccctctatg tagtgccgct cttggggaca
     1081 tgggtcgccc atgagagcgc agcccgcggc aatcaataaa cagcaggtga tacaagcaa
//
LOCUS       NM_000395               4853 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens colony stimulating factor 2 receptor subunit beta
            (CSF2RB), transcript variant 2, mRNA.
ACCESSION   NM_000395
VERSION     NM_000395.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4853)
  AUTHORS   Charlet A, Kappenstein M, Keye P, Klasener K, Endres C, Poggio T,
            Gorantla SP, Kreutmair S, Sanger J, Illert AL, Miething C, Reth M,
            Duyster J, Rummelt C and von Bubnoff N.
  TITLE     The IL-3, IL-5, and GM-CSF common receptor beta chain mediates
            oncogenic activity of FLT3-ITD-positive AML
  JOURNAL   Leukemia 36 (3), 701-711 (2022)
   PUBMED   34750506
  REMARK    GeneRIF: The IL-3, IL-5, and GM-CSF common receptor beta chain
            mediates oncogenic activity of FLT3-ITD-positive AML.
REFERENCE   2  (bases 1 to 4853)
  AUTHORS   Rashid M, Ali R, Almuzzaini B, Song H, AlHallaj A, Abdulkarim AA,
            Mohamed Baz O, Al Zahrani H, Mustafa Sabeena M, Alharbi W, Hussein M
            and Boudjelal M.
  TITLE     Discovery of a novel potentially transforming somatic mutation in
            CSF2RB gene in breast cancer
  JOURNAL   Cancer Med 10 (22), 8138-8150 (2021)
   PUBMED   34729943
  REMARK    GeneRIF: Discovery of a novel potentially transforming somatic
            mutation in CSF2RB gene in breast cancer.
REFERENCE   3  (bases 1 to 4853)
  AUTHORS   Sakaue S, Yamaguchi E, Inoue Y, Takahashi M, Hirata J, Suzuki K, Ito
            S, Arai T, Hirose M, Tanino Y, Nikaido T, Ichiwata T, Ohkouchi S,
            Hirano T, Takada T, Miyawaki S, Dofuku S, Maeda Y, Nii T, Kishikawa
            T, Ogawa K, Masuda T, Yamamoto K, Sonehara K, Tazawa R, Morimoto K,
            Takaki M, Konno S, Suzuki M, Tomii K, Nakagawa A, Handa T, Tanizawa
            K, Ishii H, Ishida M, Kato T, Takeda N, Yokomura K, Matsui T,
            Watanabe M, Inoue H, Imaizumi K, Goto Y, Kida H, Fujisawa T, Suda T,
            Yamada T, Satake Y, Ibata H, Hizawa N, Mochizuki H, Kumanogoh A,
            Matsuda F, Nakata K, Hirota T, Tamari M and Okada Y.
  TITLE     Genetic determinants of risk in autoimmune pulmonary alveolar
            proteinosis
  JOURNAL   Nat Commun 12 (1), 1032 (2021)
   PUBMED   33589587
  REMARK    GeneRIF: Genetic determinants of risk in autoimmune pulmonary
            alveolar proteinosis. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4853)
  AUTHORS   Schulte V, Sipol A, Burdach S and Rieger-Fackeldey E.
  TITLE     The Truncated Splice Variant of the
            Granulocyte-Macrophage-Colony-Stimulating Factor Receptor beta-
            Chain in Peripheral Blood Serves as Severity Biomarker of
            Respiratory Failure in Newborns
  JOURNAL   Neonatology 118 (2), 187-193 (2021)
   PUBMED   33784678
  REMARK    GeneRIF: The Truncated Splice Variant of the
            Granulocyte-Macrophage-Colony-Stimulating Factor Receptor beta-
            Chain in Peripheral Blood Serves as Severity Biomarker of
            Respiratory Failure in Newborns.
REFERENCE   5  (bases 1 to 4853)
  AUTHORS   Denson LA, Jurickova I, Karns R, Shaw KA, Cutler DJ, Okou D,
            Valencia CA, Dodd A, Mondal K, Aronow BJ, Haberman Y, Linn A, Price
            A, Bezold R, Lake K, Jackson K, Walters TD, Griffiths A, Baldassano
            RN, Noe JD, Hyams JS, Crandall WV, Kirschner BS, Heyman MB, Snapper
            S, Guthery SL, Dubinsky MC, Leleiko NS, Otley AR, Xavier RJ, Stevens
            C, Daly MJ, Zwick ME and Kugathasan S.
  TITLE     Genetic and Transcriptomic Variation Linked to Neutrophil
            Granulocyte-Macrophage Colony-Stimulating Factor Signaling in
            Pediatric Crohn's Disease
  JOURNAL   Inflamm Bowel Dis 25 (3), 547-560 (2019)
   PUBMED   30124884
  REMARK    GeneRIF: Missense mutations in CSF2RB gene is associated with
            Pediatric Crohn's Disease.
REFERENCE   6  (bases 1 to 4853)
  AUTHORS   Sakamaki K, Miyajima I, Kitamura T and Miyajima A.
  TITLE     Critical cytoplasmic domains of the common beta subunit of the human
            GM-CSF, IL-3 and IL-5 receptors for growth signal transduction and
            tyrosine phosphorylation
  JOURNAL   EMBO J 11 (10), 3541-3549 (1992)
   PUBMED   1396555
REFERENCE   7  (bases 1 to 4853)
  AUTHORS   Torigoe T, O'Connor R, Santoli D and Reed JC.
  TITLE     Interleukin-3 regulates the activity of the LYN protein-tyrosine
            kinase in myeloid-committed leukemic cell lines
  JOURNAL   Blood 80 (3), 617-624 (1992)
   PUBMED   1638019
REFERENCE   8  (bases 1 to 4853)
  AUTHORS   Tavernier J, Tuypens T, Plaetinck G, Verhee A, Fiers W and Devos R.
  TITLE     Molecular basis of the membrane-anchored and two soluble isoforms of
            the human interleukin 5 receptor alpha subunit
  JOURNAL   Proc Natl Acad Sci U S A 89 (15), 7041-7045 (1992)
   PUBMED   1495999
REFERENCE   9  (bases 1 to 4853)
  AUTHORS   Shen Y, Baker E, Callen DF, Sutherland GR, Willson TA, Rakar S and
            Gough NM.
  TITLE     Localization of the human GM-CSF receptor beta chain gene (CSF2RB)
            to chromosome 22q12.2-->q13.1
  JOURNAL   Cytogenet Cell Genet 61 (3), 175-177 (1992)
   PUBMED   1424804
REFERENCE   10  (bases 1 to 4853)
  AUTHORS   Hayashida K, Kitamura T, Gorman DM, Arai K, Yokota T and Miyajima A.
  TITLE     Molecular cloning of a second subunit of the receptor for human
            granulocyte-macrophage colony-stimulating factor (GM-CSF):
            reconstitution of a high-affinity GM-CSF receptor
  JOURNAL   Proc Natl Acad Sci U S A 87 (24), 9655-9659 (1990)
   PUBMED   1702217
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2969825.1,
            SRR14038194.2573355.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000403662.8/ ENSP00000384053.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL008637.1, BC070085.1 and
            AL133392.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000395.2.
            Summary: The protein encoded by this gene is the common beta chain
            of the high affinity receptor for IL-3, IL-5 and CSF. Defects in
            this gene have been reported to be associated with protein alveolar
            proteinosis (PAP). [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4853
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.3"
     gene            1..4853
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="colony stimulating factor 2 receptor subunit beta"
                     /db_xref="GeneID:1439"
                     /db_xref="HGNC:HGNC:2436"
                     /db_xref="MIM:138981"
     misc_feature    151..153
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="upstream in-frame stop codon"
     CDS             223..2916
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; interleukin 3 receptor/granulocyte-macrophage colony
                     stimulating factor 3 receptor, beta (high affinity);
                     cytokine receptor common subunit beta; GM-CSF/IL-3/IL-5
                     receptor common beta-chain; colony-stimulating factor-2
                     receptor, beta, low-affinity; colony stimulating factor 2
                     receptor, beta, low-affinity (granulocyte-macrophage);
                     GM-CSF/IL-3/IL-5 receptor common beta subunit; beta common
                     cytokine receptor; beta-GM-CSF receptor; colony stimulating
                     factor 2 receptor beta common subunit"
                     /codon_start=1
                     /product="cytokine receptor common subunit beta isoform 2
                     precursor"
                     /protein_id="NP_000386.1"
                     /db_xref="CCDS:CCDS13936.1"
                     /db_xref="GeneID:1439"
                     /db_xref="HGNC:HGNC:2436"
                     /db_xref="MIM:138981"
                     /translation="MVLAQGLLSMALLALCWERSLAGAEETIPLQTLRCYNDYTSHITC
                     RWADTQDAQRLVNVTLIRRVNEDLLEPVSCDLSDDMPWSACPHPRCVPRRCVIPCQSFV
                     VTDVDYFSFQPDRPLGTRLTVTLTQHVQPPEPRDLQISTDQDHFLLTWSVALGSPQSHW
                     LSPGDLEFEVVYKRLQDSWEDAAILLSNTSQATLGPEHLMPSSTYVARVRTRLAPGSRL
                     SGRPSKWSPEVCWDSQPGDEAQPQNLECFFDGAAVLSCSWEVRKEVASSVSFGLFYKPS
                     PDAGEEECSPVLREGLGSLHTRHHCQIPVPDPATHGQYIVSVQPRRAEKHIKSSVNIQM
                     APPSLNVTKDGDSYSLRWETMKMRYEHIDHTFEIQYRKDTATWKDSKTETLQNAHSMAL
                     PALEPSTRYWARVRVRTSRTGYNGIWSEWSEARSWDTESVLPMWVLALIVIFLTIAVLL
                     ALRFCGIYGYRLRRKWEEKIPNPSKSHLFQNGSAELWPPGSMSAFTSGSPPHQGPWGSR
                     FPELEGVFPVGFGDSEVSPLTIEDPKHVCDPPSGPDTTPAASDLPTEQPPSPQPGPPAA
                     SHTPEKQASSFDFNGPYLGPPHSRSLPDILGQPEPPQEGGSQKSPPPGSLEYLCLPAGG
                     QVQLVPLAQAMGPGQAVEVERRPSQGAAGSPSLESGGGPAPPALGPRVGGQDQKDSPVA
                     IPMSSGDTEDPGVASGYVSSADLVFTPNSGASSVSLVPSLGLPSDQTPSLCPGLASGPP
                     GAPGPVKSGFEGYVELPPIEGRSPRSPRNNPVPPEAKSPVLNPGERPADVSPTSPQPEG
                     LLVLQQVGDYCFLPGLGPGPLSLRSKPSSPGPGPEIKNLDQAFQVKKPPGQAVPQVPVI
                     QLFKALKQQDYLSLPPWEVNKPGEVC"
     sig_peptide     223..270
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P32927.2)"
     mat_peptide     271..2913
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /product="Cytokine receptor common subunit beta.
                     /id=PRO_0000010862"
                     /note="propagated from UniProtKB/Swiss-Prot (P32927.2)"
     misc_feature    394..396
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16754968,
                     ECO:0000269|PubMed:18692472; propagated from
                     UniProtKB/Swiss-Prot (P32927.2); glycosylation site"
     misc_feature    793..795
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16754968,
                     ECO:0000269|PubMed:18692472; propagated from
                     UniProtKB/Swiss-Prot (P32927.2); glycosylation site"
     misc_feature    1258..1260
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P32927.2); glycosylation site"
     misc_feature    1495..1509
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="propagated from UniProtKB/Swiss-Prot (P32927.2);
                     Region: WSXWS motif"
     misc_feature    1552..1602
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="propagated from UniProtKB/Swiss-Prot (P32927.2);
                     transmembrane region"
     misc_feature    1642..1668
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="propagated from UniProtKB/Swiss-Prot (P32927.2);
                     Region: Box 1 motif"
     misc_feature    1714..1773
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="propagated from UniProtKB/Swiss-Prot (P32927.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1816..2112
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="propagated from UniProtKB/Swiss-Prot (P32927.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2164..2658
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="propagated from UniProtKB/Swiss-Prot (P32927.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2518..2520
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P26955; propagated from
                     UniProtKB/Swiss-Prot (P32927.2); phosphorylation site"
     misc_feature    2710..2769
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="propagated from UniProtKB/Swiss-Prot (P32927.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4831..4836
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="hexamer: AATAAA"
     polyA_site      4853
                     /gene="CSF2RB"
                     /gene_synonym="betaGMR; CD131; CDw131; IL3RB; IL5RB; SMDP5"
                     /note="major polyA site"
ORIGIN
        1 actctgccta gaggctccag aagaagactg gtctctccca ccacacagag gcctggagga
       61 ggcagaggcc aggagggaga ggtcccaaga gcctgtgaaa tgggtctggc ctggctccca
      121 gctgggcagg aacacaggac ttcaggacac taaggaccct gtcatgccca tggccagcac
      181 ccaccagtgc tggtgcctgc ctgtccagag ctgaccaggg agatggtgct ggcccagggg
      241 ctgctctcca tggccctgct ggccctgtgc tgggagcgca gcctggcagg ggcagaagaa
      301 accatcccgc tgcagaccct gcgctgctac aacgactaca ccagccacat cacctgcagg
      361 tgggcagaca cccaggatgc ccagcggctc gtcaacgtga ccctcattcg ccgggtgaat
      421 gaggacctcc tggagccagt gtcctgtgac ctcagtgatg acatgccctg gtcagcctgc
      481 ccccatcccc gctgcgtgcc caggagatgt gtcattccct gccagagttt tgtcgtcact
      541 gacgttgact acttctcatt ccaaccagac aggcctctgg gcacccggct caccgtcact
      601 ctgacccagc atgtccagcc tcctgagccc agggacctgc agatcagcac cgaccaggac
      661 cacttcctgc tgacctggag tgtggccctt gggagtcccc agagccactg gttgtcccca
      721 ggggatctgg agtttgaggt ggtctacaag cggcttcagg actcttggga ggacgcagcc
      781 atcctcctct ccaacacctc ccaggccacc ctggggccag agcacctcat gcccagcagc
      841 acctacgtgg cccgagtacg gacccgcctg gccccaggtt ctcggctctc aggacgtccc
      901 agcaagtgga gcccagaggt ttgctgggac tcccagccag gggatgaggc ccagccccag
      961 aacctggagt gcttctttga cggggccgcc gtgctcagct gctcctggga ggtgaggaag
     1021 gaggtggcca gctcggtctc ctttggccta ttctacaagc ccagcccaga tgcaggggag
     1081 gaagagtgct ccccagtgct gagggagggg ctcggcagcc tccacaccag gcaccactgc
     1141 cagattcccg tgcccgaccc cgcgacccac ggccaataca tcgtctctgt tcagccaagg
     1201 agggcagaga aacacataaa gagctcagtg aacatccaga tggcccctcc atccctcaac
     1261 gtgaccaagg atggagacag ctacagcctg cgctgggaaa caatgaaaat gcgatacgaa
     1321 cacatagacc acacatttga gatccagtac aggaaagaca cggccacgtg gaaggacagc
     1381 aagaccgaga ccctccagaa cgcccacagc atggccctgc cagccctgga gccctccacc
     1441 aggtactggg ccagggtgag ggtcaggacc tcccgcaccg gctacaacgg gatctggagc
     1501 gagtggagtg aggcgcgctc ctgggacacc gagtcggtgc tgcctatgtg ggtgctggcc
     1561 ctcatcgtga tcttcctcac catcgctgtg ctcctggccc tccgcttctg tggcatctac
     1621 gggtacaggc tgcgcagaaa gtgggaggag aagatcccca accccagcaa gagccacctg
     1681 ttccagaacg ggagcgcaga gctttggccc ccaggcagca tgtcggcctt cactagcggg
     1741 agtcccccac accaggggcc gtggggcagc cgcttccctg agctggaggg ggtgttccct
     1801 gtaggattcg gggacagcga ggtgtcacct ctcaccatag aggaccccaa gcatgtctgt
     1861 gatccaccat ctgggcctga cacgactcca gctgcctcag atctacccac agagcagccc
     1921 cccagccccc agccaggccc gcctgccgcc tcccacacac ctgagaaaca ggcttccagc
     1981 tttgacttca atgggcccta cctggggccg ccccacagcc gctccctacc tgacatcctg
     2041 ggccagccgg agcccccaca ggagggtggg agccagaagt ccccacctcc agggtccctg
     2101 gagtacctgt gtctgcctgc tggggggcag gtgcaactgg tccctctggc ccaggcgatg
     2161 ggaccaggac aggccgtgga agtggagaga aggccgagcc agggggctgc agggagtccc
     2221 tccctggagt ccgggggagg ccctgcccct cctgctcttg ggccaagggt gggaggacag
     2281 gaccaaaagg acagccctgt ggctataccc atgagctctg gggacactga ggaccctgga
     2341 gtggcctctg gttatgtctc ctctgcagac ctggtattca ccccaaactc aggggcctcg
     2401 tctgtctccc tagttccctc tctgggcctc ccctcagacc agacccccag cttatgtcct
     2461 gggctggcca gtggaccccc tggagcccca ggccctgtga agtcagggtt tgagggctat
     2521 gtggagctcc ctccaattga gggccggtcc cccaggtcac caaggaacaa tcctgtcccc
     2581 cctgaggcca aaagccctgt cctgaaccca ggggaacgcc cggcagatgt gtccccaaca
     2641 tccccacagc ccgagggcct ccttgtcctg cagcaagtgg gcgactattg cttcctcccc
     2701 ggcctggggc ccggccctct ctcgctccgg agtaaacctt cttccccggg acccggtcct
     2761 gagatcaaga acctagacca ggcttttcaa gtcaagaagc ccccaggcca ggctgtgccc
     2821 caggtgcccg tcattcagct cttcaaagcc ctgaagcagc aggactacct gtctctgccc
     2881 ccttgggagg tcaacaagcc tggggaggtg tgttgagacc cccaggccta gacaggcaag
     2941 gggatggaga gggcttgcct tccctcccgc ctgaccttcc tcagtcattt ctgcaaagcc
     3001 aaggggcagc ctcctgtcaa ggtagctaga ggcctgggaa aggagatagc cttgctccgg
     3061 cccccttgac cttcagcaaa tcacttctct ccctgcgctc acacagacac acacacacac
     3121 acgtacatgc acacattttt cctgtcaggt taacttattt gtaggttctg cattattaga
     3181 actttctaga tatactcatt ccatctcccc ctcatttttt taatcaggtt tccttgcttt
     3241 tgccattttt cttccttctt ttttcactga tttattatga gagtggggct gaggtctgag
     3301 ctgagcctta tcagactgag atgcggctgg ttgtgttgag gacttgtgtg ggctgcctgt
     3361 ccccggcagt cgctgatgca catgacatga ttctcatctg ggtgcagagg tgggaggcac
     3421 caggtgggca cccgtggggg ttagggcttg gaagagtggc acaggactgg gcacgctcag
     3481 tgaggctcag ggaattcaga ctagcctcga ttgtcactcc gagaaatggg catggtattg
     3541 ggggtcgggg gggcggtgca agggacgcac atgagagact gtttgggagc ttctggggag
     3601 ccctgctagt tgtctcagtg atgtctgtgg gacctccagt cccttgagac cccacgtcat
     3661 gtagagaagt taacggccca agtggtgggc aggctggcgg gacctgggga acatcaggag
     3721 aggagtccag agcccacgtc tactgcggaa aagtcagggg aaactgccaa acaaaggaaa
     3781 atgccccaaa ggcatatatg ctttagggcc tttggtccaa atggcccggg tggccactct
     3841 tccagataga ccaggcaact ctccctccca ccggccacag atgaggggct gctgatctat
     3901 gcctgggcct gcaccaggga ttatggttct tttaaatctt tgcctttcag atacaggaaa
     3961 aataatggca ttaaattgct ttaatttgca ttattttagt tatccagttt gcacatattt
     4021 ttataggtat cttaggcatc gattggtatt ttttaactgg gccaagccca ttaaggtctt
     4081 tcttctgttg ggtgctatca ttttctgatt aagtcttttt gactattgac atacagtctt
     4141 tcacagatgg tggagtgttt ttcccccaaa tctgttgttt gtcttataat gttgtatatg
     4201 aggttttatg gtgtatgaat atgaatgctt ctgtaatgtc aaacagatcc ctagtaaact
     4261 ccttcttcac ttttactgtc agatttacaa aggtcctccc attgcaaagc agtgtttgtc
     4321 ctaatttata tattgttttt ctagttcatt ttgtgtttcc aacttttcat gtaaaatttt
     4381 aattattttt gaatgtgtgg atgtgagact gaggtgcctt ttggtactga aattcttttt
     4441 ccatgtacct gaagtgttac ttttgtgata taggaaatcc ttgtatatat actttattgg
     4501 tccctaggct tcctattttg ttaccttgct ttctctatgg catccaccat tttgattgtt
     4561 ctacttttat gatatgtttt cataagtggt taagcaagta ttctcgttac ttttgctctt
     4621 aaatccctat tcattacagc aatgttggtg gtcaaagaaa atgataaaca acttgaatgt
     4681 tcaatggtcc tgaaatacat aacaacattt tagtacattg taaagtagaa tcctctgttc
     4741 ataatgaaca agatgaacca atgtggatta gaaagaagtc cgagatatta attccaaaat
     4801 atccagacat tgttaaaggg aaaaaattgc aataaaatat ttgtaacata aaa
//
LOCUS       NM_000396               1629 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens cathepsin K (CTSK), mRNA.
ACCESSION   NM_000396
VERSION     NM_000396.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1629)
  AUTHORS   Fabrik I, Bilkei-Gorzo O, Oberg M, Fabrikova D, Fuchs J, Sihlbom C,
            Goransson M and Hartlova A.
  TITLE     Lung macrophages utilize unique cathepsin K-dependent phagosomal
            machinery to degrade intracellular collagen
  JOURNAL   Life Sci Alliance 6 (4), e202201535 (2023)
   PUBMED   36697252
  REMARK    GeneRIF: Lung macrophages utilize unique cathepsin K-dependent
            phagosomal machinery to degrade intracellular collagen. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1629)
  AUTHORS   Wu N, Wang Y, Wang K, Zhong B, Liao Y, Liang J and Jiang N.
  TITLE     Cathepsin K regulates the tumor growth and metastasis by
            IL-17/CTSK/EMT axis and mediates M2 macrophage polarization in
            castration-resistant prostate cancer
  JOURNAL   Cell Death Dis 13 (9), 813 (2022)
   PUBMED   36138018
  REMARK    GeneRIF: Cathepsin K regulates the tumor growth and metastasis by
            IL-17/CTSK/EMT axis and mediates M2 macrophage polarization in
            castration-resistant prostate cancer. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1629)
  AUTHORS   Markova TV, Kenis V, Melchenko E, Guseva D, Osipova D, Galeeva N,
            Nagornova T and Dadali EL.
  TITLE     Clinical and genetic characterization of three Russian patients with
            pycnodysostosis due to pathogenic variants in the CTSK gene
  JOURNAL   Mol Genet Genomic Med 10 (5), e1904 (2022)
   PUBMED   35315254
  REMARK    GeneRIF: Clinical and genetic characterization of three Russian
            patients with pycnodysostosis due to pathogenic variants in the CTSK
            gene.
REFERENCE   4  (bases 1 to 1629)
  AUTHORS   Soundararajan A, Ghag SA, Vuda SS, Wang T and Pattabiraman PP.
  TITLE     Cathepsin K Regulates Intraocular Pressure by Modulating
            Extracellular Matrix Remodeling and Actin-Bundling in the Trabecular
            Meshwork Outflow Pathway
  JOURNAL   Cells 10 (11), 2864 (2021)
   PUBMED   34831087
  REMARK    GeneRIF: Cathepsin K Regulates Intraocular Pressure by Modulating
            Extracellular Matrix Remodeling and Actin-Bundling in the Trabecular
            Meshwork Outflow Pathway. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1629)
  AUTHORS   Liu F, Zhou Z, Xue Y, Zhu B, Wu B and Chen F.
  TITLE     [Activation of mir-30a-wnt/beta-catenin signaling pathway
            upregulates cathepsin K expression to promote cementogenic
            differentiation of periodontal ligament stem cells]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 41 (10), 1439-1447 (2021)
   PUBMED   34755658
  REMARK    GeneRIF: [Activation of mir-30a-wnt/beta-catenin signaling pathway
            upregulates cathepsin K expression to promote cementogenic
            differentiation of periodontal ligament stem cells].
REFERENCE   6  (bases 1 to 1629)
  AUTHORS   Del Nery E, Chagas JR, Juliano MA, Prado ES and Juliano L.
  TITLE     Evaluation of the extent of the binding site in human tissue
            kallikrein by synthetic substrates with sequences of human kininogen
            fragments
  JOURNAL   Biochem J 312 (Pt 1) (Pt 1), 233-238 (1995)
   PUBMED   7492318
REFERENCE   7  (bases 1 to 1629)
  AUTHORS   Bromme D and Okamoto K.
  TITLE     Human cathepsin O2, a novel cysteine protease highly expressed in
            osteoclastomas and ovary molecular cloning, sequencing and tissue
            distribution
  JOURNAL   Biol Chem Hoppe Seyler 376 (6), 379-384 (1995)
   PUBMED   7576232
REFERENCE   8  (bases 1 to 1629)
  AUTHORS   Inaoka T, Bilbe G, Ishibashi O, Tezuka K, Kumegawa M and Kokubo T.
  TITLE     Molecular cloning of human cDNA for cathepsin K: novel cysteine
            proteinase predominantly expressed in bone
  JOURNAL   Biochem Biophys Res Commun 206 (1), 89-96 (1995)
   PUBMED   7818555
REFERENCE   9  (bases 1 to 1629)
  AUTHORS   Shi GP, Chapman HA, Bhairi SM, DeLeeuw C, Reddy VY and Weiss SJ.
  TITLE     Molecular cloning of human cathepsin O, a novel endoproteinase and
            homologue of rabbit OC2
  JOURNAL   FEBS Lett 357 (2), 129-134 (1995)
   PUBMED   7805878
REFERENCE   10  (bases 1 to 1629)
  AUTHORS   LeBlanc,S. and Savarirayan,R.
  TITLE     Pycnodysostosis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   33151655
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.207696.1,
            SRR5189655.162406.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000271651.8/ ENSP00000271651.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355860.12 and AL356292.21.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000396.3.
            Summary: The protein encoded by this gene is a lysosomal cysteine
            proteinase involved in bone remodeling and resorption. This
            protein, which is a member of the peptidase C1 protein family, is
            predominantly expressed in osteoclasts. However, the encoded
            protein is also expressed in a significant fraction of human breast
            cancers, where it could contribute to tumor invasiveness. Mutations
            in this gene are the cause of pycnodysostosis, an autosomal
            recessive disease characterized by osteosclerosis and short
            stature. [provided by RefSeq, Apr 2013].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1629
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..1629
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /note="cathepsin K"
                     /db_xref="GeneID:1513"
                     /db_xref="HGNC:HGNC:2536"
                     /db_xref="MIM:601105"
     CDS             49..1038
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /EC_number="3.4.22.38"
                     /note="cathepsin X; cathepsin O1; cathepsin O2"
                     /codon_start=1
                     /product="cathepsin K preproprotein"
                     /protein_id="NP_000387.1"
                     /db_xref="CCDS:CCDS969.1"
                     /db_xref="GeneID:1513"
                     /db_xref="HGNC:HGNC:2536"
                     /db_xref="MIM:601105"
                     /translation="MWGLKVLLLPVVSFALYPEEILDTHWELWKKTHRKQYNNKVDEIS
                     RRLIWEKNLKYISIHNLEASLGVHTYELAMNHLGDMTSEEVVQKMTGLKVPLSHSRSND
                     TLYIPEWEGRAPDSVDYRKKGYVTPVKNQGQCGSCWAFSSVGALEGQLKKKTGKLLNLS
                     PQNLVDCVSENDGCGGGYMTNAFQYVQKNRGIDSEDAYPYVGQEESCMYNPTGKAAKCR
                     GYREIPEGNEKALKRAVARVGPVSVAIDASLTSFQFYSKGVYYDESCNSDNLNHAVLAV
                     GYGIQKGNKHWIIKNSWGENWGNKGYILMARNKNNACGIANLASFPKM"
     sig_peptide     49..93
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    355..357
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P43235.1); glycosylation site"
     mat_peptide     391..1035
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /product="Cathepsin K. /id=PRO_0000026296"
                     /note="propagated from UniProtKB/Swiss-Prot (P43235.1)"
     regulatory      1574..1579
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /note="hexamer: AATAAA"
     regulatory      1604..1609
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /note="hexamer: AATAAA"
     polyA_site      1605
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
                     /note="major polyA site"
     polyA_site      1629
                     /gene="CTSK"
                     /gene_synonym="CTS02; CTSO; CTSO1; CTSO2; PKND; PYCD"
ORIGIN
        1 acactttgct gccgaaacga agccagacaa cagatttcca tcagcaggat gtgggggctc
       61 aaggttctgc tgctacctgt ggtgagcttt gctctgtacc ctgaggagat actggacacc
      121 cactgggagc tatggaagaa gacccacagg aagcaatata acaacaaggt ggatgaaatc
      181 tctcggcgtt taatttggga aaaaaacctg aagtatattt ccatccataa ccttgaggct
      241 tctcttggtg tccatacata tgaactggct atgaaccacc tgggggacat gaccagtgaa
      301 gaggtggttc agaagatgac tggactcaaa gtacccctgt ctcattcccg cagtaatgac
      361 accctttata tcccagaatg ggaaggtaga gccccagact ctgtcgacta tcgaaagaaa
      421 ggatatgtta ctcctgtcaa aaatcagggt cagtgtggtt cctgttgggc ttttagctct
      481 gtgggtgccc tggagggcca actcaagaag aaaactggca aactcttaaa tctgagtccc
      541 cagaacctag tggattgtgt gtctgagaat gatggctgtg gagggggcta catgaccaat
      601 gccttccaat atgtgcagaa gaaccggggt attgactctg aagatgccta cccatatgtg
      661 ggacaggaag agagttgtat gtacaaccca acaggcaagg cagctaaatg cagagggtac
      721 agagagatcc ccgaggggaa tgagaaagcc ctgaagaggg cagtggcccg agtgggacct
      781 gtctctgtgg ccattgatgc aagcctgacc tccttccagt tttacagcaa aggtgtgtat
      841 tatgatgaaa gctgcaatag cgataatctg aaccatgcag ttttggcagt gggatatgga
      901 atccagaagg gaaacaagca ctggataatt aaaaacagct ggggagaaaa ctggggaaac
      961 aaaggatata tcctcatggc tcgaaataag aacaacgcct gtggcattgc caacctggcc
     1021 agcttcccca agatgtgact ccagccagcc aaatccatcc tgctcttcca tttcttccac
     1081 gatggtgcag tgtaacgatg cactttggaa gggagttggt gtgctatttt tgaagcagat
     1141 gtggtgatac tgagattgtc tgttcagttt ccccatttgt ttgtgcttca aatgatcctt
     1201 cctactttgc ttctctccac ccatgacctt tttcactgtg gccatcagga ctttccctga
     1261 cagctgtgta ctcttaggct aagagatgtg actacagcct gcccctgact gtgttgtccc
     1321 agggctgatg ctgtacaggt acaggctgga gattttcaca taggttagat tctcattcac
     1381 gggactagtt agctttaagc accctagagg actagggtaa tctgacttct cacttcctaa
     1441 gttcccttct atatcctcaa ggtagaaatg tctatgtttt ctactccaat tcataaatct
     1501 attcataagt ctttggtaca agtttacatg ataaaaagaa atgtgatttg tcttcccttc
     1561 tttgcacttt tgaaataaag tatttatctc ctgtctacag tttaataaat agcatctagt
     1621 acacattca
//
LOCUS       NM_000397               4276 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens cytochrome b-245 beta chain (CYBB), mRNA.
ACCESSION   NM_000397
VERSION     NM_000397.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4276)
  AUTHORS   Gul I, Khan TA, Akbar NU, Gul N, Ali R and Khan SN.
  TITLE     Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous
            Disease in Pakistani patients
  JOURNAL   Ital J Pediatr 49 (1), 95 (2023)
   PUBMED   37533075
  REMARK    GeneRIF: Novel mutations in CYBB Gene Cause X-linked chronic
            Granulomatous Disease in Pakistani patients. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 4276)
  AUTHORS   Kamhieh-Milz J, Chen L, Goettsch C, Pfefferkorn AM, Hofmann A,
            Brunssen C, Muller GM, Walther T, Ashraf MI, Moll G, Morawietz H,
            Witowski J and Catar R.
  TITLE     Ang II Promotes ET-1 Production by Regulating NOX2 Activity Through
            Transcription Factor Oct-1
  JOURNAL   Arterioscler Thromb Vasc Biol 43 (8), 1429-1440 (2023)
   PUBMED   37381986
  REMARK    GeneRIF: Ang II Promotes ET-1 Production by Regulating NOX2 Activity
            Through Transcription Factor Oct-1.
REFERENCE   3  (bases 1 to 4276)
  AUTHORS   Takiguchi K, Shimizu H, Shoda K, Shiraishi K, Furuya S, Hosomura N,
            Akaike H, Kawaguchi Y, Amemiya H, Kawaida H, Mochizuki K, Kondo T
            and Ichikawa D.
  TITLE     The Expression and Role of NADPH Oxidase 2 in Colon Cancer
  JOURNAL   Anticancer Res 43 (6), 2601-2608 (2023)
   PUBMED   37247898
  REMARK    GeneRIF: The Expression and Role of NADPH Oxidase 2 in Colon Cancer.
REFERENCE   4  (bases 1 to 4276)
  AUTHORS   Su IC, Su YK, Setiawan SA, Yadav VK, Fong IH, Yeh CT, Lin CM and Liu
            HW.
  TITLE     NADPH Oxidase Subunit CYBB Confers Chemotherapy and Ferroptosis
            Resistance in Mesenchymal Glioblastoma via Nrf2/SOD2 Modulation
  JOURNAL   Int J Mol Sci 24 (9), 7706 (2023)
   PUBMED   37175412
  REMARK    GeneRIF: NADPH Oxidase Subunit CYBB Confers Chemotherapy and
            Ferroptosis Resistance in Mesenchymal Glioblastoma via Nrf2/SOD2
            Modulation. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4276)
  AUTHORS   Jiang Z, Wu L, van der Leeden B, van Rossum AC, Niessen HWM and
            Krijnen PAJ.
  TITLE     NOX2 and NOX5 are increased in cardiac microvascular endothelium of
            deceased COVID-19 patients
  JOURNAL   Int J Cardiol 370, 454-462 (2023)
   PUBMED   36332749
  REMARK    GeneRIF: NOX2 and NOX5 are increased in cardiac microvascular
            endothelium of deceased COVID-19 patients.
REFERENCE   6  (bases 1 to 4276)
  AUTHORS   Leiding,J.W. and Holland,S.M.
  TITLE     Chronic Granulomatous Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   22876374
REFERENCE   7  (bases 1 to 4276)
  AUTHORS   Bolscher BG, de Boer M, de Klein A, Weening RS and Roos D.
  TITLE     Point mutations in the beta-subunit of cytochrome b558 leading to
            X-linked chronic granulomatous disease
  JOURNAL   Blood 77 (11), 2482-2487 (1991)
   PUBMED   1710153
REFERENCE   8  (bases 1 to 4276)
  AUTHORS   Nong Y, Kandil O, Tobin EH, Rose RM and Remold HG.
  TITLE     The HIV core protein p24 inhibits interferon-gamma-induced increase
            of HLA-DR and cytochrome b heavy chain mRNA levels in the human
            monocyte-like cell line THP1
  JOURNAL   Cell Immunol 132 (1), 10-16 (1991)
   PUBMED   1905983
REFERENCE   9  (bases 1 to 4276)
  AUTHORS   Dinauer MC, Pierce EA, Bruns GA, Curnutte JT and Orkin SH.
  TITLE     Human neutrophil cytochrome b light chain (p22-phox). Gene
            structure, chromosomal location, and mutations in
            cytochrome-negative autosomal recessive chronic granulomatous
            disease
  JOURNAL   J Clin Invest 86 (5), 1729-1737 (1990)
   PUBMED   2243141
REFERENCE   10  (bases 1 to 4276)
  AUTHORS   Royer-Pokora,B., Kunkel,L.M., Monaco,A.P., Goff,S.C.,
            Newburger,P.E., Baehner,R.L., Cole,F.S., Curnutte,J.T. and
            Orkin,S.H.
  TITLE     Cloning the gene for an inherited human disorder--chronic
            granulomatous disease--on the basis of its chromosomal location
  JOURNAL   Nature 322 (6074), 32-38 (1986)
   PUBMED   2425263
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC032720.1, X04011.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378588.5/ ENSP00000367851.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC032720.1.
            On Aug 31, 2019 this sequence version replaced NM_000397.3.
            Summary: Cytochrome b (-245) is composed of cytochrome b alpha
            (CYBA) and beta (CYBB) chain. It has been proposed as a primary
            component of the microbicidal oxidase system of phagocytes. CYBB
            deficiency is one of five described biochemical defects associated
            with chronic granulomatous disease (CGD). In this disorder, there
            is decreased activity of phagocyte NADPH oxidase; neutrophils are
            able to phagocytize bacteria but cannot kill them in the phagocytic
            vacuoles. The cause of the killing defect is an inability to
            increase the cell's respiration and consequent failure to deliver
            activated oxygen into the phagocytic vacuole. [provided by RefSeq,
            Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4276
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp21.1-p11.4"
     gene            1..4276
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="cytochrome b-245 beta chain"
                     /db_xref="GeneID:1536"
                     /db_xref="HGNC:HGNC:2578"
                     /db_xref="MIM:300481"
     CDS             20..1732
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="NADPH oxidase 2; CGD91-phox; p22 phagocyte
                     B-cytochrome; cytochrome b558 subunit beta; cytochrome
                     b(558) subunit beta; neutrophil cytochrome b 91 kDa
                     polypeptide; heme-binding membrane glycoprotein gp91phox;
                     cytochrome b-245 beta polypeptide; superoxide-generating
                     NADPH oxidase heavy chain subunit"
                     /codon_start=1
                     /product="cytochrome b-245 heavy chain"
                     /protein_id="NP_000388.2"
                     /db_xref="CCDS:CCDS14242.1"
                     /db_xref="GeneID:1536"
                     /db_xref="HGNC:HGNC:2578"
                     /db_xref="MIM:300481"
                     /translation="MGNWAVNEGLSIFVILVWLGLNVFLFVWYYRVYDIPPKFFYTRKL
                     LGSALALARAPAACLNFNCMLILLPVCRNLLSFLRGSSACCSTRVRRQLDRNLTFHKMV
                     AWMIALHSAIHTIAHLFNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRIKNP
                     EGGLYLAVTLLAGITGVVITLCLILIITSSTKTIRRSYFEVFWYTHHLFVIFFIGLAIH
                     GAERIVRGQTAESLAVHNITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYL
                     CERLVRFWRSQQKVVITKVVTHPFKTIELQMKKKGFKMEVGQYIFVKCPKVSKLEWHPF
                     TLTSAPEEDFFSIHIRIVGDWTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVF
                     SYEVVMLVGAGIGVTPFASILKSVWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLL
                     QLLESQMQERNNAGFLSYNIYLTGWDESQANHFAVHHDEEKDVITGLKQKTLYGRPNWD
                     NEFKTIASQHPNTRIGVFLCGPEALAETLSKQSISNSESGPRGVHFIFNKENF"
     misc_feature    44..106
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="propagated from UniProtKB/Swiss-Prot (P04839.2);
                     transmembrane region"
     misc_feature    221..223
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="glycosylation site"
     misc_feature    272..274
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="glycosylation site"
     misc_feature    326..388
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="propagated from UniProtKB/Swiss-Prot (P04839.2);
                     transmembrane region"
     misc_feature    413..415
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04839.2); glycosylation site"
     misc_feature    464..466
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04839.2); glycosylation site"
     misc_feature    527..589
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="propagated from UniProtKB/Swiss-Prot (P04839.2);
                     transmembrane region"
     misc_feature    620..682
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="propagated from UniProtKB/Swiss-Prot (P04839.2);
                     transmembrane region"
     misc_feature    737..739
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04839.2); glycosylation site"
     misc_feature    803..865
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="propagated from UniProtKB/Swiss-Prot (P04839.2);
                     transmembrane region"
     regulatory      1752..1757
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="hexamer: AATAAA"
     polyA_site      1776
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
     regulatory      2870..2875
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="hexamer: AATACA"
     polyA_site      2893
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
     regulatory      4257..4262
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="hexamer: ATTAAA"
     polyA_site      4276
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="major polyA site"
ORIGIN
        1 acattcaacc tctgccacca tggggaactg ggctgtgaat gaggggctct ccatttttgt
       61 cattctggtt tggctggggt tgaacgtctt cctctttgtc tggtattacc gggtttatga
      121 tattccacct aagttctttt acacaagaaa acttcttggg tcagcactgg cactggccag
      181 ggcccctgca gcctgcctga atttcaactg catgctgatt ctcttgccag tctgtcgaaa
      241 tctgctgtcc ttcctcaggg gttccagtgc gtgctgctca acaagagttc gaagacaact
      301 ggacaggaat ctcacctttc ataaaatggt ggcatggatg attgcacttc actctgcgat
      361 tcacaccatt gcacatctat ttaatgtgga atggtgtgtg aatgcccgag tcaataattc
      421 tgatccttat tcagtagcac tctctgaact tggagacagg caaaatgaaa gttatctcaa
      481 ttttgctcga aagagaataa agaaccctga aggaggcctg tacctggctg tgaccctgtt
      541 ggcaggcatc actggagttg tcatcacgct gtgcctcata ttaattatca cttcctccac
      601 caaaaccatc cggaggtctt actttgaagt cttttggtac acacatcatc tctttgtgat
      661 cttcttcatt ggccttgcca tccatggagc tgaacgaatt gtacgtgggc agaccgcaga
      721 gagtttggct gtgcataata taacagtttg tgaacaaaaa atctcagaat ggggaaaaat
      781 aaaggaatgc ccaatccctc agtttgctgg aaaccctcct atgacttgga aatggatagt
      841 gggtcccatg tttctgtatc tctgtgagag gttggtgcgg ttttggcgat ctcaacagaa
      901 ggtggtcatc accaaggtgg tcactcaccc tttcaaaacc atcgagctac agatgaagaa
      961 gaaggggttc aaaatggaag tgggacaata catttttgtc aagtgcccaa aggtgtccaa
     1021 gctggagtgg caccctttta cactgacatc cgcccctgag gaagacttct ttagtatcca
     1081 tatccgcatc gttggggact ggacagaggg gctgttcaat gcttgtggct gtgataagca
     1141 ggagtttcaa gatgcgtgga aactacctaa gatagcggtt gatgggccct ttggcactgc
     1201 cagtgaagat gtgttcagct atgaggtggt gatgttagtg ggagcaggga ttggggtcac
     1261 acccttcgca tccattctca agtcagtctg gtacaaatat tgcaataacg ccaccaatct
     1321 gaagctcaaa aagatctact tctactggct gtgccgggac acacatgcct ttgagtggtt
     1381 tgcagatctg ctgcaactgc tggagagcca gatgcaggaa aggaacaatg ccggcttcct
     1441 cagctacaac atctacctca ctggctggga tgagtctcag gccaatcact ttgctgtgca
     1501 ccatgatgag gagaaagatg tgatcacagg cctgaaacaa aagactttgt atggacggcc
     1561 caactgggat aatgaattca agacaattgc aagtcaacac cctaatacca gaataggagt
     1621 tttcctctgt ggacctgaag ccttggctga aaccctgagt aaacaaagca tctccaactc
     1681 tgagtctggc cctcggggag tgcatttcat tttcaacaag gaaaacttct aacttgtctc
     1741 ttccatgagg aaataaatgt gggttgtgct gccaaatgct caaataatgc taattgataa
     1801 tataaatacc ccctgcttaa aaatggacaa aaagaaacta taatgtaatg gttttccctt
     1861 aaaggaatgt caaagattgt ttgatagtga taagttacat ttatgtggag ctctatggtt
     1921 ttgagagcac ttttacaaac attatttcat ttttttcctc tcagtaatgt cagtggaagt
     1981 tagggaaaag attcttggac tcaattttag aatcaaaagg gaaaggatca aaaggttcag
     2041 taacttccct aagattatga aactgtgacc agatctagcc catcttactc caggtttgat
     2101 actctttcca caatactgag ctgcctcaga atcctcaaaa tcagttttta tattccccaa
     2161 aagaagaagg aaaccaagga gtagctatat atttctactt tgtgtcattt ttgccatcat
     2221 tattatcata ctgaaggaaa ttttccagat cattaggaca taatacatgt tgagagtgtc
     2281 tcaacactta ttagtgacag tattgacatc tgagcatact ccagtttact aatacagcag
     2341 ggtaactggg ccagatgttc tttctacaga agaatattgg attgattgga gttaatgtaa
     2401 tactcatcat ttaccactgt gcttggcaga gagcggatac tcaagtaagt tttgttaaat
     2461 gaatgaatga atttagaacc acacaatgcc aagatagaat taatttaaag ccttaaacaa
     2521 aatttatcta aagaaataac ttctattact gtcatagacc aaaggaatct gattctccct
     2581 agggtcaaga acaggctaag gatactaacc aataggattg cctgaagggt tctgcacatt
     2641 cttatttgaa gcatgaaaaa agagggttgg aggtggagaa ttaacctcct gccatgactc
     2701 tggctcatct agtcctgctc cttgtgctat aaaataaatg cagactaatt tcctgcccaa
     2761 agtggtcttc tccagctagc ccttatgaat attgaactta ggaattgtga caaatatgta
     2821 tctgatatgg tcatttgttt taaataacac ccacccctta ttttccgtaa atacacacac
     2881 aaaatggatc gcatctgtgt gactaatggt ttatttgtat tatatcatca tcatcatcct
     2941 aaaattaaca acccagaaac aaaaatctct atacagagat caaattcaca ctcaatagta
     3001 tgttctgaat atatgttcaa gagagagtct ctaaatcact gttagtgtgg ccaagagcag
     3061 ggttttcttt ttgttcttag aactgctccc atttctggga actaaaacca gttttatttg
     3121 ccccacccct tggagccaca aatgtttaga actcttcaac ttcggtaatg aggaagaagg
     3181 agaaagagct gggggaaggg cagaagactg gtttaggagg aaaaggaaat aaggagaaaa
     3241 gagaatggga gagtgagaga aaataaaaaa ggcaaaaggg agagagaggg gaagggggtc
     3301 tcatattggt cattccctgc cccagatttc ttaaagtttg atatgtatag aatataattg
     3361 aaggaggtat acacatattg atgttgtttt gattatctat ggtattgaat cttttaaaat
     3421 ctggtcacaa attttgatgc tgagggggat tattcaaggg actaggatga actaaataag
     3481 aactcagttg ttctttgtca tactactatt cctttcgtct cccagaatcc tcagggcact
     3541 gagggtaggt ctgacaaata aggcctgctg tgcgaatata gcctttctga aatgtaccag
     3601 gatggtttct gcttagagac acttaggtcc agcctgttca cactgcacct caggtatcaa
     3661 ttcatctatt caacagatat ttattgtgtt attactatga gtcaggctct gtttattgtt
     3721 tcaattcttt acaccaaagt atgaactgga gagggtacct cagttataag gagtctgaga
     3781 atattggccc tttctaacct atgtgcataa ttaaaaccag cttcatttgt tgctccgaga
     3841 gtgtttctcc aaggttttct atcttcaaaa ccaactaagt tatgaaagta gagagatctg
     3901 ccctgtgtta tccagttatg agataaaaaa tgaatataag agtgcttgtc attataaaag
     3961 tttccttttt tattctctca agccaccagc tgccagccac cagcagccag ctgccagcct
     4021 agcttttttt tttttttttt ttttttagca cttagtattt agcatttatt aacaggtact
     4081 ctaagaatga tgaagcattg tttttaatct taagactatg aaggtttttc ttagttcttc
     4141 tgcttttgca attgtgtttg tgaaatttga atacttgcag gctttgtatg tgaataattc
     4201 tagcggggga cctgggagat aattcctacg gggaattctt aaaactgtgc tcaactatta
     4261 aaatgaatga gctttc
//
LOCUS       NM_000398               2916 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens cytochrome b5 reductase 3 (CYB5R3), transcript variant
            1, mRNA.
ACCESSION   NM_000398
VERSION     NM_000398.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2916)
  AUTHORS   Deorukhkar A, Kulkarni A and Kedar P.
  TITLE     Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5
            reductase enzyme deficiency leads to recessive congenital
            methaemoglobinemia
  JOURNAL   Mol Biol Rep 49 (3), 2141-2147 (2022)
   PUBMED   35064402
  REMARK    GeneRIF: Three novel mutations in CYB5R3 gene causing
            NADH-cytochrome b5 reductase enzyme deficiency leads to recessive
            congenital methaemoglobinemia.
REFERENCE   2  (bases 1 to 2916)
  AUTHORS   Gordeuk VR, Shah BN, Zhang X, Thuma PE, Zulu S, Moono R, Reading NS,
            Song J, Zhang Y, Nouraie M, Campbell A, Minniti CP, Rana SR, Darbari
            DS, Kato GJ, Niu M, Castro OL, Machado R, Gladwin MT and Prchal JT.
  TITLE     The CYB5R3c.350C>G and G6PD A alleles modify severity of anemia in
            malaria and sickle cell disease
  JOURNAL   Am J Hematol 95 (11), 1269-1279 (2020)
   PUBMED   32697331
  REMARK    GeneRIF: The CYB5R3(c) (.350C>G) and G6PD A alleles modify severity
            of anemia in malaria and sickle cell disease.
REFERENCE   3  (bases 1 to 2916)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2916)
  AUTHORS   Gupta V, Kulkarni A, Warang P, Devendra R, Chiddarwar A and Kedar P.
  TITLE     Mutation update: Variants of the CYB5R3 gene in recessive congenital
            methemoglobinemia
  JOURNAL   Hum Mutat 41 (4), 737-748 (2020)
   PUBMED   31898843
  REMARK    GeneRIF: Mutation update: Variants of the CYB5R3 gene in recessive
            congenital methemoglobinemia.
REFERENCE   5  (bases 1 to 2916)
  AUTHORS   Kedar PS, Gupta V, Warang P, Chiddarwar A and Madkaikar M.
  TITLE     Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5
            reductase deficiency in eight Indian patients associated with
            autosomal recessive congenital methemoglobinemia type-I
  JOURNAL   Hematology 23 (8), 567-573 (2018)
   PUBMED   29482478
  REMARK    GeneRIF: study indicated that novel homozygous mutation p.Arg192Cys
            in CYB5R3 gene present in eight cases and the possibility of high
            prevalence of heterozygous in Indian population causing Type I
            recessive congenital methemoglobinemia.
REFERENCE   6  (bases 1 to 2916)
  AUTHORS   Shirabe K, Yubisui T, Borgese N, Tang CY, Hultquist DE and Takeshita
            M.
  TITLE     Enzymatic instability of NADH-cytochrome b5 reductase as a cause of
            hereditary methemoglobinemia type I (red cell type)
  JOURNAL   J Biol Chem 267 (28), 20416-20421 (1992)
   PUBMED   1400360
REFERENCE   7  (bases 1 to 2916)
  AUTHORS   Malkinson AM, Siegel D, Forrest GL, Gazdar AF, Oie HK, Chan DC, Bunn
            PA, Mabry M, Dykes DJ, Harrison SD et al.
  TITLE     Elevated DT-diaphorase activity and messenger RNA content in human
            non-small cell lung carcinoma: relationship to the response of lung
            tumor xenografts to mitomycin Cl
  JOURNAL   Cancer Res 52 (17), 4752-4757 (1992)
   PUBMED   1324793
REFERENCE   8  (bases 1 to 2916)
  AUTHORS   Narahara K, Takahashi Y, Murakami M, Tsuji K, Yokoyama Y, Murakami
            R, Ninomiya S and Seino Y.
  TITLE     Terminal 22q deletion associated with a partial deficiency of
            arylsulphatase A
  JOURNAL   J Med Genet 29 (6), 432-433 (1992)
   PUBMED   1352356
  REMARK    Review article
REFERENCE   9  (bases 1 to 2916)
  AUTHORS   Katsube T, Sakamoto N, Kobayashi Y, Seki R, Hirano M, Tanishima K,
            Tomoda A, Takazakura E, Yubisui T, Takeshita M et al.
  TITLE     Exonic point mutations in NADH-cytochrome B5 reductase genes of
            homozygotes for hereditary methemoglobinemia, types I and III:
            putative mechanisms of tissue-dependent enzyme deficiency
  JOURNAL   Am J Hum Genet 48 (4), 799-808 (1991)
   PUBMED   1707593
REFERENCE   10  (bases 1 to 2916)
  AUTHORS   Dailey,H.A. and Strittmatter,P.
  TITLE     Modification and identification of cytochrome b5 carboxyl groups
            involved in protein-protein interaction with cytochrome b5 reductase
  JOURNAL   J Biol Chem 254 (12), 5388-5396 (1979)
   PUBMED   221468
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.151933.1,
            SRR1660805.6405.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142680,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000352397.10/ ENSP00000338461.6
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX334220.2, BC004821.1 and
            Z93241.11.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000398.6.
            Summary: This gene encodes cytochrome b5 reductase, which includes
            a membrane-bound form in somatic cells (anchored in the endoplasmic
            reticulum, mitochondrial and other membranes) and a soluble form in
            erythrocytes. The membrane-bound form exists mainly on the
            cytoplasmic side of the endoplasmic reticulum and functions in
            desaturation and elongation of fatty acids, in cholesterol
            biosynthesis, and in drug metabolism. The erythrocyte form is
            located in a soluble fraction of circulating erythrocytes and is
            involved in methemoglobin reduction. The membrane-bound form has
            both membrane-binding and catalytic domains, while the soluble form
            has only the catalytic domain. Alternate splicing results in
            multiple transcript variants. Mutations in this gene cause
            methemoglobinemias. [provided by RefSeq, Jan 2010].
            Transcript Variant: This variant (1) encodes the membrane-bound
            form (isoform 1) of the enzyme. This isoform (1) is referred to in
            the literature as isoform m.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2916
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..2916
                     /gene="CYB5R3"
                     /gene_synonym="B5R; DIA1"
                     /note="cytochrome b5 reductase 3"
                     /db_xref="GeneID:1727"
                     /db_xref="HGNC:HGNC:2873"
                     /db_xref="MIM:613213"
     CDS             78..983
                     /gene="CYB5R3"
                     /gene_synonym="B5R; DIA1"
                     /EC_number="1.6.2.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     diaphorase-1; NADH-cytochrome b5 reductase 3 membrane-bound
                     form; NADH-cytochrome b5 reductase 3 soluble form; mutant
                     NADH-cytochrome b5 reductase"
                     /codon_start=1
                     /product="NADH-cytochrome b5 reductase 3 isoform 1"
                     /protein_id="NP_000389.1"
                     /db_xref="CCDS:CCDS33658.1"
                     /db_xref="GeneID:1727"
                     /db_xref="HGNC:HGNC:2873"
                     /db_xref="MIM:613213"
                     /translation="MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPL
                     RLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKG
                     FVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDK
                     KSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPEL
                     EELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQ
                     YACLPNLDHVGHPTERCFVF"
     misc_feature    201..203
                     /gene="CYB5R3"
                     /gene_synonym="B5R; DIA1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00387.3); acetylation site"
     misc_feature    204..206
                     /gene="CYB5R3"
                     /gene_synonym="B5R; DIA1"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P00387.3); phosphorylation site"
     misc_feature    435..437
                     /gene="CYB5R3"
                     /gene_synonym="B5R; DIA1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9DCN2; propagated from
                     UniProtKB/Swiss-Prot (P00387.3); acetylation site"
     regulatory      1922..1927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYB5R3"
                     /gene_synonym="B5R; DIA1"
                     /note="hexamer: AGTAAA"
     polyA_site      1943
                     /gene="CYB5R3"
                     /gene_synonym="B5R; DIA1"
                     /note="major polyA site"
     regulatory      2897..2902
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYB5R3"
                     /gene_synonym="B5R; DIA1"
                     /note="hexamer: AATAAA"
     polyA_site      2916
                     /gene="CYB5R3"
                     /gene_synonym="B5R; DIA1"
ORIGIN
        1 ggagtgacgc gggcccgggc gcgacggtct cggcggcggc ggcggcggcg acagagcgag
       61 cgcggcgcgg ggccaccatg ggggcccagc tcagcacgtt gggccatatg gtgctcttcc
      121 cagtctggtt cctgtacagt ctgctcatga agctgttcca gcgctccacg ccagccatca
      181 ccctcgagag cccggacatc aagtacccgc tgcggctcat cgaccgggag atcatcagcc
      241 atgacacccg gcgcttccgc tttgccctgc cgtcacccca gcacatcctg ggcctccctg
      301 tcggccagca catctacctc tcggctcgaa ttgatggaaa cctggtcgtc cggccctata
      361 cacccatctc cagcgatgat gacaagggct tcgtggacct ggtcatcaag gtttacttca
      421 aggacaccca tcccaagttt cccgctggag ggaagatgtc tcagtacctg gagagcatgc
      481 agattggaga caccattgag ttccggggcc ccagtgggct gctggtctac cagggcaaag
      541 ggaagttcgc catccgacct gacaaaaagt ccaaccctat catcaggaca gtgaagtctg
      601 tgggcatgat cgcgggaggg acaggcatca ccccgatgct gcaggtgatc cgcgccatca
      661 tgaaggaccc tgatgaccac actgtgtgcc acctgctctt tgccaaccag accgagaagg
      721 acatcctgct gcgacctgag ctggaggaac tcaggaacaa acattctgca cgcttcaagc
      781 tctggtacac gctggacaga gcccctgaag cctgggacta cggccagggc ttcgtgaatg
      841 aggagatgat ccgggaccac cttccacccc cagaggagga gccgctggtg ctgatgtgtg
      901 gccccccacc catgatccag tacgcctgcc ttcccaacct ggaccacgtg ggccacccca
      961 cggagcgctg cttcgtcttc tgagggccgg gcacggtcac acggccaccc gccccgcgca
     1021 ccccacgccc tgttcacgct cacccagtca cctccccaca tcgcacactg gggccccggg
     1081 ttcagcctgg cctgcccgtg ccctggtgaa tcacctggct gagcagttcc cctggagccc
     1141 cttcgggagc agggctgtgt cccagatggg ccacggctga gccttcagag tacgtcctgc
     1201 ctggcactta ctggtcctta ccagagacgc ccagccccat ccctgtcctc atgacccctc
     1261 gtccaccccc cacacacact ataaggctga gggctgccag cagccccgtc tgcccaccat
     1321 tcccggccgt ggaccatagt cgggatgtca gcagacacac atgggcagcc caaagctgca
     1381 ggtgccaggg cccaccccag cctcgcctgt cacccccact cccgcctcag ggccaggccc
     1441 aggcctcacc acctgacgct gcatgagaca ttgacaccag aaagccctct tgggggcact
     1501 gctccctacc ccagggccct ggccagccgg gagcttggct ctcctctggc tagagtggga
     1561 agagggggct ggccatgggg ccctcccaga acctcagcat ttccttccag cccatccaaa
     1621 cactgaggca gccttgggga accccgagct ggggggttgg cagcccactg caccgcctca
     1681 gggttttggg gtcctgggct ggggccacca tccctgatgg cagaactccc acaaccacat
     1741 gtatttattc ctctgtccta aaccgtcccc tccttccctc acccccagca cagggggatt
     1801 ctgagcagtg cctcttgtct gagggacata tcagtgacct cgacgttgcc tttagactac
     1861 agttgtgtta gcctcttgcg tattggcttt ttcagagtca tttatgagca gaaaaaaaaa
     1921 aagtaaaact ttgctaatat taacccttct ctagctcctc gagggtctgt gacctgcaac
     1981 acaaggggtg gggtcaggaa agggctgggg aagacctagc attttttttt tctttttttt
     2041 ttttttttga gacggagtct ccctttgtca cccaggctgg agtggcatga tctcagctca
     2101 ctacaacctc cacctctcgg gttcaagcga ttctcctgcc tcagcctccc gagtagctgg
     2161 gactaaaagt gcccaccacc acacccagct agtttttgta tttttttttt tttttttttg
     2221 agacggagtc tcgctctgtc gcccaggctg gagtgcagtg gcgggatctc ggctcactgc
     2281 aagctccgcc tcccgggttc acgccattct cctgcctcag cctcccaagt agctgggact
     2341 acaggcgccc gccactacgc ccggctaatt ttttgtattt ttagtagaga cggggtttca
     2401 ccgttttagc cgggatggtc tcgatctcct gacctcgtga tccgcccgcc tcggcctccc
     2461 aaagtgctgg gattacaggc gtgagccact gcgcccggct ccagcattta tttctgatgt
     2521 atctttgtgg tagaaaattt ggaaagtgca gagaagtata cacaggaaga aaaattccca
     2581 acccccagag gcaaaccagc tgaaaccacg caaccccagt caccccaatg caccgcgagg
     2641 ctgctgcctc ctgtcagggt cagatgagcc tcgaggctca ggaaagtcag aggatgccat
     2701 ctgcatggtg gtaaattaca gaggtgatga ggcaaggtgg gtgtggggct gttcttaaaa
     2761 cggggcagca ggaaggcccc aaggagatgg atttgggctg ggacgggaag agagagctgg
     2821 ccatgctggg gtgggtgggt gttcaaatgg tggaaacagc agacgcaaag gccctgccgt
     2881 tggaaccagc ttgtggaata aactttcaga aacaga
//
LOCUS       NM_000399               2979 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens early growth response 2 (EGR2), transcript variant 1,
            mRNA.
ACCESSION   NM_000399
VERSION     NM_000399.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2979)
  AUTHORS   Echaniz-Laguna A, Cauquil C, Chanson JB, Tard C, Guyant-Marechal L,
            Kuntzer T, Ion IM, Lia AS, Bouligand J and Poinsignon V.
  TITLE     EGR2 gene-linked hereditary neuropathies present with a bimodal age
            distribution at symptoms onset
  JOURNAL   J Peripher Nerv Syst 28 (3), 359-367 (2023)
   PUBMED   37306961
  REMARK    GeneRIF: EGR2 gene-linked hereditary neuropathies present with a
            bimodal age distribution at symptoms onset.
REFERENCE   2  (bases 1 to 2979)
  AUTHORS   .
  TITLE     EGR2 drives TH17 cell pathogenicity in autoimmune neuroinflammation
  JOURNAL   Nat Immunol 24 (8), 1230-1231 (2023)
   PUBMED   37474655
  REMARK    GeneRIF: EGR2 drives TH17 cell pathogenicity in autoimmune
            neuroinflammation.
REFERENCE   3  (bases 1 to 2979)
  AUTHORS   Gao Y, Wang Y, Chauss D, Villarino AV, Link VM, Nagashima H, Spinner
            CA, Koparde VN, Bouladoux N, Abers MS, Break TJ, Chopp LB, Park JH,
            Zhu J, Wiest DL, Leonard WJ, Lionakis MS, O'Shea JJ, Afzali B,
            Belkaid Y and Lazarevic V.
  TITLE     Transcription factor EGR2 controls homing and pathogenicity of TH17
            cells in the central nervous system
  JOURNAL   Nat Immunol 24 (8), 1331-1344 (2023)
   PUBMED   37443284
  REMARK    GeneRIF: Transcription factor EGR2 controls homing and pathogenicity
            of TH17 cells in the central nervous system.
REFERENCE   4  (bases 1 to 2979)
  AUTHORS   Jung IY, Bartoszek RL, Rech AJ, Collins SM, Ooi SK, Williams EF,
            Hopkins CR, Narayan V, Haas NB, Frey NV, Hexner EO, Siegel DL, Plesa
            G, Porter DL, Cantu A, Everett JK, Guedan S, Berger SL, Bushman FD,
            Herbst F and Fraietta JA.
  TITLE     Type I Interferon Signaling via the EGR2 Transcriptional Regulator
            Potentiates CAR T Cell-Intrinsic Dysfunction
  JOURNAL   Cancer Discov 13 (7), 1636-1655 (2023)
   PUBMED   37011008
  REMARK    GeneRIF: Type I Interferon Signaling via the EGR2 Transcriptional
            Regulator Potentiates CAR T Cell-Intrinsic Dysfunction.
REFERENCE   5  (bases 1 to 2979)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 4 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301641
REFERENCE   6  (bases 1 to 2979)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301532
REFERENCE   7  (bases 1 to 2979)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 1 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301384
REFERENCE   8  (bases 1 to 2979)
  AUTHORS   Rangnekar VM, Aplin AC and Sukhatme VP.
  TITLE     The serum and TPA responsive promoter and intron-exon structure of
            EGR2, a human early growth response gene encoding a zinc finger
            protein
  JOURNAL   Nucleic Acids Res 18 (9), 2749-2757 (1990)
   PUBMED   2111009
REFERENCE   9  (bases 1 to 2979)
  AUTHORS   Chavrier P, Janssen-Timmen U, Mattei MG, Zerial M, Bravo R and
            Charnay P.
  TITLE     Structure, chromosome location, and expression of the mouse zinc
            finger gene Krox-20: multiple gene products and coregulation with
            the proto-oncogene c-fos
  JOURNAL   Mol Cell Biol 9 (2), 787-797 (1989)
   PUBMED   2496302
REFERENCE   10  (bases 1 to 2979)
  AUTHORS   Joseph LJ, Le Beau MM, Jamieson GA Jr, Acharya S, Shows TB, Rowley
            JD and Sukhatme VP.
  TITLE     Molecular cloning, sequencing, and mapping of EGR2, a human early
            growth response gene encoding a protein with 'zinc-binding finger'
            structure
  JOURNAL   Proc Natl Acad Sci U S A 85 (19), 7164-7168 (1988)
   PUBMED   3140236
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1989 Jan;86(2):515]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CR749641.1, SRR1660805.72069.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2154125 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000242480.4/ ENSP00000242480.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133417.11 and KF459538.1.
            On Nov 22, 2018 this sequence version replaced NM_000399.4.
            Summary: The protein encoded by this gene is a transcription factor
            with three tandem C2H2-type zinc fingers. Defects in this gene are
            associated with Charcot-Marie-Tooth disease type 1D (CMT1D),
            Charcot-Marie-Tooth disease type 4E (CMT4E), and with
            Dejerine-Sottas syndrome (DSS). Multiple transcript variants
            encoding two different isoforms have been found for this gene.
            [provided by RefSeq, Oct 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a). Variants 1, 2, and 3
            all encode the same isoform.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2979
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.3"
     gene            1..2979
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /note="early growth response 2"
                     /db_xref="GeneID:1959"
                     /db_xref="HGNC:HGNC:3239"
                     /db_xref="MIM:129010"
     misc_feature    299..301
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /note="upstream in-frame stop codon"
     CDS             338..1768
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /note="isoform a is encoded by transcript variant 1;
                     KROX-20, Drosophila, homolog (early growth response-2);
                     early growth response protein 2; zinc finger protein
                     Krox-20; E3 SUMO-protein ligase EGR2; E3 SUMO-protein
                     transferase ERG2"
                     /codon_start=1
                     /product="E3 SUMO-protein ligase EGR2 isoform a"
                     /protein_id="NP_000390.2"
                     /db_xref="CCDS:CCDS7267.1"
                     /db_xref="GeneID:1959"
                     /db_xref="HGNC:HGNC:3239"
                     /db_xref="MIM:129010"
                     /translation="MMTAKAVDKIPVTLSGFVHQLSDNIYPVEDLAATSVTIFPNAELG
                     GPFDQMNGVAGDGMINIDMTGEKRSLDLPYPSSFAPVSAPRNQTFTYMGKFSIDPQYPG
                     ASCYPEGIINIVSAGILQGVTSPASTTASSSVTSASPNPLATGPLGVCTMSQTQPDLDH
                     LYSPPPPPPPYSGCAGDLYQDPSAFLSAATTSTSSSLAYPPPPSYPSPKPATDPGLFPM
                     IPDYPGFFPSQCQRDLHGTAGPDRKPFPCPLDTLRVPPPLTPLSTIRNFTLGGPSAGVT
                     GPGASGGSEGPRLPGSSSAAAAAAAAAAYNPHHLPLRPILRPRKYPNRPSKTPVHERPY
                     PCPAEGCDRRFSRSDELTRHIRIHTGHKPFQCRICMRNFSRSDHLTTHIRTHTGEKPFA
                     CDYCGRKFARSDERKRHTKIHLRQKERKSSAPSASVPAPSTASCSGGVQPGGTLCSSNS
                     SSLGGGPLAPCSSRTRTP"
     misc_feature    716..871
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /note="propagated from UniProtKB/Swiss-Prot (P11161.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    821..832
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /note="propagated from UniProtKB/Swiss-Prot (P11161.3);
                     Region: HCFC1-binding-motif (HBM)"
     misc_feature    1076..1078
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /note="N6-acetyllysine, by EP300.
                     /evidence=ECO:0000250|UniProtKB:P08152; propagated from
                     UniProtKB/Swiss-Prot (P11161.3); acetylation site"
     misc_feature    1160..1237
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /note="propagated from UniProtKB/Swiss-Prot (P11161.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1289..1360
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /note="propagated from UniProtKB/Swiss-Prot (P11161.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1571..1765
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /note="propagated from UniProtKB/Swiss-Prot (P11161.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2959..2964
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /note="hexamer: AATAAA"
     polyA_site      2979
                     /gene="EGR2"
                     /gene_synonym="AT591; CMT1D; CMT4E; KROX20"
                     /note="major polyA site"
ORIGIN
        1 aactgagcga ggagcaattg attaatagct cggcgagggg actcactgac tgttataata
       61 acactacacc agcaactcct ggcttcccag cagccggaac acagacagga gagagtcagt
      121 ggcaaataga catttttctt atttcttaaa aaacagcaac ttgtttgcta cttttatttc
      181 tgttgatttt tttttcttgg tgtgtgtggt ggttgttttt aagtgtggag ggcaaaagga
      241 gataccatcc caggctcagt ccaacccctc tccaaaacgg cttttctgac actccaggta
      301 gcgagggagt tgggtctcca ggttgtgcga ggagcaaatg atgaccgcca aggccgtaga
      361 caaaatccca gtaactctca gtggttttgt gcaccagctg tctgacaaca tctacccggt
      421 ggaggacctc gccgccacgt cggtgaccat ctttcccaat gccgaactgg gaggcccctt
      481 tgaccagatg aacggagtgg ccggagatgg catgatcaac attgacatga ctggagagaa
      541 gaggtcgttg gatctcccat atcccagcag ctttgctccc gtctctgcac ctagaaacca
      601 gaccttcact tacatgggca agttctccat tgaccctcag taccctggtg ccagctgcta
      661 cccagaaggc ataatcaata ttgtgagtgc aggcatcttg caaggggtca cttccccagc
      721 ttcaaccaca gcctcatcca gcgtcacctc tgcctccccc aacccactgg ccacaggacc
      781 cctgggtgtg tgcaccatgt cccagaccca gcctgacctg gaccacctgt actctccgcc
      841 accgcctcct cctccttatt ctggctgtgc aggagacctc taccaggacc cttctgcgtt
      901 cctgtcagca gccaccacct ccacctcttc ctctctggcc tacccaccac ctccttccta
      961 tccatccccc aagccagcca cggacccagg tctcttccca atgatcccag actatcctgg
     1021 attctttcca tctcagtgcc agagagacct acatggtaca gctggcccag accgtaagcc
     1081 ctttccctgc ccactggaca ccctgcgggt gccccctcca ctcactccac tctctacaat
     1141 ccgtaacttt accctggggg gccccagtgc tggggtgacc ggaccagggg ccagtggagg
     1201 cagcgaggga ccccggctgc ctggtagcag ctcagcagca gcagcagccg ccgccgccgc
     1261 cgcctataac ccacaccacc tgccactgcg gcccattctg aggcctcgca agtaccccaa
     1321 cagacccagc aagacgccgg tgcacgagag gccctacccg tgcccagcag aaggctgcga
     1381 ccggcggttc tcccgctctg acgagctgac acggcacatc cgaatccaca ctgggcataa
     1441 gcccttccag tgtcggatct gcatgcgcaa cttcagccgc agtgaccacc tcaccaccca
     1501 tatccgcacc cacaccggtg agaagccctt cgcctgtgac tactgtggcc gaaagtttgc
     1561 ccggagtgat gagaggaagc gccacaccaa gatccacctg agacagaaag agcggaaaag
     1621 cagtgccccc tctgcatcgg tgccagcccc ctctacagcc tcctgctctg ggggcgtgca
     1681 gcctgggggt accctgtgca gcagtaacag cagcagtctt ggcggagggc cgctcgcccc
     1741 ttgctcctct cggacccgga caccttgaga tgagactcag gctgatacac cagctcccaa
     1801 aggtcccgga ggccctttgt ccactggagc tgcacaacaa acactaccac cctttcctgt
     1861 ccctctctcc ctttgttggg caaagggctt tggtggagct agcactgccc cctttccacc
     1921 tagaagcagg ttcttcctaa aacttagccc attctagtct ctcttaggtg agttgactat
     1981 caacccaagg caaaggggag gctcagaagg aggtggtgtg gggacccctg gccaagaggg
     2041 ctgaggtctg accctgcttt aaagggttgt ttgactaggt tttgctaccc cacttcccct
     2101 tattttgacc catcacaggt ttttgaccct ggatgtcaga gttgatctaa gacgttttct
     2161 acaataggtt gggagatgct gatcccttca agtggggaca gcaaaaagac aagcaaaact
     2221 gatgtgcact ttatggcttg ggactgattt gggggacatt gtacagtgag tgaagtatag
     2281 cctttatgcc acactctgtg gccctaaaat ggtgaatcag agcatatcta gttgtctcaa
     2341 cccttgaagc aatatgtatt ataaactcag agaacagaag tgcaatgtga tgggaggaac
     2401 atagcaatat ctgctccttt tcgagttgtt tgagaaatgt aggctatttt ttcagtgtat
     2461 atccactcag attttgtgta tttttgatgt acactgttct ctaaattctg aatctttggg
     2521 aaaaaatgta aagcatttat gatctcagag gttaacttat ttaaggggga tgtacatata
     2581 ttctctgaaa ctaggatgca tgcaattgtg ttggaagtgt ccttggtgcc ttgtgtgatg
     2641 tagacaatgt tacaaggtct gcatgtaaat gggttgcctt attatggaga aaaaaaatca
     2701 ctccctgagt ttagtatggc tgtatatttc tgcctattaa tatttggaat tttttttaga
     2761 aagtatattt ttgtatgctt tgttttgtga cttaaaagtg ttacctttgt agtcaaattt
     2821 cagataagaa tgtacataat gttaccggag ctgatttgtt tggtcattag ctcttaatag
     2881 ttgtgaaaaa ataaatctat tctaacgcaa aaccactaac tgaagttcag ataatggatg
     2941 gtttgtgact atagtgtaaa taaatacttt tcaacaata
//
LOCUS       NM_000400               4108 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens ERCC excision repair 2, TFIIH core complex helicase
            subunit (ERCC2), transcript variant 1, mRNA.
ACCESSION   NM_000400
VERSION     NM_000400.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4108)
  AUTHORS   Sun GF and Ding H.
  TITLE     NOP2-mediated m5C methylation of XPD is associated with
            hepatocellular carcinoma progression
  JOURNAL   Neoplasma 70 (3), 340-349 (2023)
   PUBMED   37498063
  REMARK    GeneRIF: NOP2-mediated m5C methylation of XPD is associated with
            hepatocellular carcinoma progression.
REFERENCE   2  (bases 1 to 4108)
  AUTHORS   Kim J, Li CL, Chen X, Cui Y, Golebiowski FM, Wang H, Hanaoka F,
            Sugasawa K and Yang W.
  TITLE     Lesion recognition by XPC, TFIIH and XPA in DNA excision repair
  JOURNAL   Nature 617 (7959), 170-175 (2023)
   PUBMED   37076618
  REMARK    GeneRIF: Lesion recognition by XPC, TFIIH and XPA in DNA excision
            repair.
REFERENCE   3  (bases 1 to 4108)
  AUTHORS   Adico MDW, Zoure AA, Sombie HK, Kiendrebeogo TI, Dabre S, Amegnona
            LJ, Bakyono BS, Traore L, Ouedraogo TC, Ouedraogo RA, Zohoncon TM,
            Yonli AT, Bayala B, Bambara HA, Djigma FW and Simpore J.
  TITLE     Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793, rs13181)
            polymorphisms of DNA repair genes in breast cancer occurrence in
            Burkina Faso
  JOURNAL   Mol Genet Genomic Med 11 (4), e2134 (2023)
   PUBMED   36594475
  REMARK    GeneRIF: Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793,
            rs13181) polymorphisms of DNA repair genes in breast cancer
            occurrence in Burkina Faso.
REFERENCE   4  (bases 1 to 4108)
  AUTHORS   Khalid F, Phan T, Qiang M, Maity P, Lasser T, Wiese S, Penzo M,
            Alupei M, Orioli D, Scharffetter-Kochanek K and Iben S.
  TITLE     TFIIH mutations can impact on translational fidelity of the ribosome
  JOURNAL   Hum Mol Genet 32 (7), 1102-1113 (2023)
   PUBMED   36308430
  REMARK    GeneRIF: TFIIH mutations can impact on translational fidelity of the
            ribosome.
REFERENCE   5  (bases 1 to 4108)
  AUTHORS   van den Heuvel D, Kim M, Wondergem AP, van der Meer PJ, Witkamp M,
            Lambregtse F, Kim HS, Kan F, Apelt K, Kragten A, Gonzalez-Prieto R,
            Vertegaal ACO, Yeo JE, Kim BG, van Doorn R, Scharer OD and
            Luijsterburg MS.
  TITLE     A disease-associated XPA allele interferes with TFIIH binding and
            primarily affects transcription-coupled nucleotide excision repair
  JOURNAL   Proc Natl Acad Sci U S A 120 (11), e2208860120 (2023)
   PUBMED   36893274
  REMARK    GeneRIF: A disease-associated XPA allele interferes with TFIIH
            binding and primarily affects transcription-coupled nucleotide
            excision repair.
REFERENCE   6  (bases 1 to 4108)
  AUTHORS   Kraemer,K.H., DiGiovanna,J.J. and Tamura,D.
  TITLE     Xeroderma Pigmentosum
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301571
REFERENCE   7  (bases 1 to 4108)
  AUTHORS   Flejter WL, McDaniel LD, Johns D, Friedberg EC and Schultz RA.
  TITLE     Correction of xeroderma pigmentosum complementation group D mutant
            cell phenotypes by chromosome and gene transfer: involvement of the
            human ERCC2 DNA repair gene
  JOURNAL   Proc Natl Acad Sci U S A 89 (1), 261-265 (1992)
   PUBMED   1729695
REFERENCE   8  (bases 1 to 4108)
  AUTHORS   Jacob GA, Luse SW and Luse DS.
  TITLE     Abortive initiation is increased only for the weakest members of a
            set of down mutants of the adenovirus 2 major late promoter
  JOURNAL   J Biol Chem 266 (33), 22537-22544 (1991)
   PUBMED   1939271
REFERENCE   9  (bases 1 to 4108)
  AUTHORS   Weber CA, Salazar EP, Stewart SA and Thompson LH.
  TITLE     ERCC2: cDNA cloning and molecular characterization of a human
            nucleotide excision repair gene with high homology to yeast RAD3
  JOURNAL   EMBO J 9 (5), 1437-1447 (1990)
   PUBMED   2184031
REFERENCE   10  (bases 1 to 4108)
  AUTHORS   Conaway RC and Conaway JW.
  TITLE     ATP activates transcription initiation from promoters by RNA
            polymerase II in a reversible step prior to RNA synthesis
  JOURNAL   J Biol Chem 263 (6), 2962-2968 (1988)
   PUBMED   2449431
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.17169.1,
            SRR11853558.12988.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000391945.10/ ENSP00000375809.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA409300.1, BC108255.1,
            CN388234.1 and L47234.2.
            On Nov 21, 2019 this sequence version replaced NM_000400.3.
            Summary: The nucleotide excision repair pathway is a mechanism to
            repair damage to DNA. The protein encoded by this gene is involved
            in transcription-coupled nucleotide excision repair and is an
            integral member of the basal transcription factor BTF2/TFIIH
            complex. The gene product has ATP-dependent DNA helicase activity
            and belongs to the RAD3/XPD subfamily of helicases. Defects in this
            gene can result in three different disorders, the cancer-prone
            syndrome xeroderma pigmentosum complementation group D,
            trichothiodystrophy, and Cockayne syndrome. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Aug 2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: The RefSeq transcript was derived from the reference
            genome assembly. The genomic coordinates were determined from
            alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4108
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..4108
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /note="ERCC excision repair 2, TFIIH core complex helicase
                     subunit"
                     /db_xref="GeneID:2068"
                     /db_xref="HGNC:HGNC:3434"
                     /db_xref="MIM:126340"
     CDS             34..2316
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /EC_number="3.6.4.12"
                     /note="isoform 1 is encoded by transcript variant 1;
                     xeroderma pigmentosum complementary group D; TFIIH basal
                     transcription factor complex helicase subunit; TFIIH basal
                     transcription factor complex helicase XPB subunit; TFIIH
                     basal transcription factor complex helicase XPD subunit;
                     TFIIH subunit XPD; excision repair cross-complementing
                     rodent repair deficiency, complementation group 2;
                     xeroderma pigmentosum group D-complementing protein; TFIIH
                     basal transcription factor complex 80 kDa subunit; CXPD;
                     BTF2 p80; TFIIH p80; TFIIH 80 kDa subunit; DNA excision
                     repair protein ERCC-2; DNA repair protein complementing
                     XP-D cells; basic transcription factor 2 80 kDa subunit;
                     excision repair cross-complementation group 2; general
                     transcription and DNA repair factor IIH helicase subunit
                     XPD"
                     /codon_start=1
                     /product="general transcription and DNA repair factor IIH
                     helicase subunit XPD isoform 1"
                     /protein_id="NP_000391.1"
                     /db_xref="CCDS:CCDS33049.1"
                     /db_xref="GeneID:2068"
                     /db_xref="HGNC:HGNC:3434"
                     /db_xref="MIM:126340"
                     /translation="MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSG
                     TGKTVSLLALIMAYQRAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPF
                     LGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEEFDA
                     HGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVS
                     KELARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRL
                     RDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYV
                     KWRLRVQHVVQESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTL
                     LANFATLVSTYAKGFTIIIEPFDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITS
                     GTLSPLDIYPKILDFHPVTMATFTMTLARVCLCPMIIGRGNDQVAISSKFETREDIAVI
                     RNYGNLLLEMSAVVPDGIVAFFTSYQYMESTVASWYEQGILENIQRNKLLFIETQDGAE
                     TSVALEKYQEACENGRGAILLSVARGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKA
                     RLEYLRDQFQIRENDFLTFDAMRHAAQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLP
                     RWIQEHLTDANLNLTVDEGVQVAKYFLRQMAQPFHREDQLGLSLLSLEQLESEETLKRI
                     EQIAQQL"
     misc_feature    733..744
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /note="propagated from UniProtKB/Swiss-Prot (P18074.1);
                     Region: DEAH box"
     misc_feature    1345..1944
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /note="propagated from UniProtKB/Swiss-Prot (P18074.1);
                     Region: Mediates interaction with MMS19"
     misc_feature    2077..2118
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /note="propagated from UniProtKB/Swiss-Prot (P18074.1);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     regulatory      2333..2338
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /note="hexamer: CATAAA"
     polyA_site      2351
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /note="major polyA site"
     regulatory      4088..4093
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /note="hexamer: AATAAA"
     polyA_site      4108
                     /gene="ERCC2"
                     /gene_synonym="COFS2; EM9; TFIIH; TTD; TTD1; XPD"
                     /note="major polyA site"
ORIGIN
        1 gggtcgaccc cgctgcacag tccggccggc gccatgaagc tcaacgtgga cgggctcctg
       61 gtctacttcc cgtacgacta catctacccc gagcagttct cctacatgcg ggagctcaaa
      121 cgcacgctgg acgccaaggg tcatggagtc ctggagatgc cctcaggcac cgggaagaca
      181 gtatccctgt tggccctgat catggcatac cagagagcat atccgctgga ggtgaccaaa
      241 ctcatctact gctcaagaac tgtgccagag attgagaagg tgattgaaga gcttcgaaag
      301 ttgctcaact tctatgagaa gcaggagggc gagaagctgc cgtttctggg actggctctg
      361 agctcccgca aaaacttgtg tattcaccct gaggtgacac ccctgcgctt tgggaaggac
      421 gtcgatggga aatgccacag cctcacagcc tcctatgtgc gggcgcagta ccagcatgac
      481 accagcctgc cccactgccg attctatgag gaatttgatg cccatgggcg tgaggtgccc
      541 ctccccgctg gcatctacaa cctggatgac ctgaaggccc tggggcggcg ccagggctgg
      601 tgcccatact tccttgctcg atactcaatc ctgcatgcca atgtggtggt ttatagctac
      661 cactacctcc tggaccccaa gattgcagac ctggtgtcca aggaactggc ccgcaaggcc
      721 gtcgtggtct tcgacgaggc ccacaacatt gacaacgtct gcatcgactc catgagcgtc
      781 aacctcaccc gccggaccct tgaccggtgc cagggcaacc tggagaccct gcagaagacg
      841 gtgctcagga tcaaagagac agacgagcag cgcctgcggg acgagtaccg gcgtctggtg
      901 gaggggctgc gggaggccag cgccgcccgg gagacggacg cccacctggc caaccccgtg
      961 ctgcccgacg aagtgctgca ggaggcagtg cctggctcca tccgcacggc cgagcatttc
     1021 ctgggcttcc tgaggcggct gctggagtac gtgaagtggc ggctgcgtgt gcagcatgtg
     1081 gtgcaggaga gcccgcccgc cttcctgagc ggcctggccc agcgcgtgtg catccagcgc
     1141 aagcccctca gattctgtgc tgaacgcctc cggtccctgc tgcatactct ggagatcacc
     1201 gaccttgctg acttctcccc gctcaccctc cttgctaact ttgccaccct tgtcagcacc
     1261 tacgccaaag gcttcaccat catcatcgag ccctttgacg acagaacccc gaccattgcc
     1321 aaccccatcc tgcacttcag ctgcatggac gcctcgctgg ccatcaaacc cgtatttgag
     1381 cgtttccagt ctgtcatcat cacatctggg acactgtccc cgctggacat ctaccccaag
     1441 atcctggact tccaccccgt caccatggca accttcacca tgacgctggc acgggtctgc
     1501 ctctgcccta tgatcatcgg ccgtggcaat gaccaggtgg ccatcagctc caaatttgag
     1561 acccgggagg atattgctgt gatccggaac tatgggaacc tcctgctgga gatgtccgct
     1621 gtggtccctg atggcatcgt ggccttcttc accagctacc agtacatgga gagcaccgtg
     1681 gcctcctggt atgagcaggg gatccttgag aacatccaga ggaacaagct gctctttatt
     1741 gagacccagg atggtgccga aaccagtgtc gccctggaga agtaccagga ggcctgcgag
     1801 aatggccgcg gggccatcct gctgtcagtg gcccggggca aagtgtccga gggaatcgac
     1861 tttgtgcacc actacgggcg ggccgtcatc atgtttggcg tcccctacgt ctacacacag
     1921 agccgcattc tcaaggcgcg gctggaatac ctgcgggacc agttccagat tcgtgagaat
     1981 gactttctta ccttcgatgc catgcgccac gcggcccagt gtgtgggtcg ggccatcagg
     2041 ggcaagacgg actacggcct catggtcttt gccgacaagc ggtttgcccg tggggacaag
     2101 cgggggaagc tgccccgctg gatccaggag cacctcacag atgccaacct caacctgacc
     2161 gtggacgagg gtgtccaggt ggccaagtac ttcctgcggc agatggcaca gcccttccac
     2221 cgggaggatc agctgggcct gtccctgctc agcctggagc agctagaatc agaggagacg
     2281 ctgaagagga tagagcagat tgctcagcag ctctgagtgg ggcgggtggg gccataaacg
     2341 gttcctggtg actcctgagt cttgcctggc cctggttccc agcggcggtg gtgctagaag
     2401 gtcttatgaa gtcaggtgac atttctcact gtcacgtcca cagcctttaa tcgcaggaga
     2461 aggcagctat ccaccaggta cccagaggca agggggggcc aggagatgat agaccccctc
     2521 tcaccccacc agcccatccc tcctgcactg ttcccaagaa gctgcggcca gcgcagttca
     2581 ctggacgtta gtgggggctc aggtcctggg tgctggcgct gagggtccga ggggccttgt
     2641 ccaggtgcca gctgggaaac tggagacagg cacaggggat ggttggaggg gaggtgaggg
     2701 gcaagtgtta catccaccct ccagctccag gtccagcctg gcagccaact atccaacccc
     2761 ctcgcctcta ccccaagtaa aacccatctt tgctcctgtc ctgggtctct tctgacacca
     2821 acccaccacc tgctgactcc accactggcc cgaccgccct gcctttgcct catctctgca
     2881 cctacccaca tggcctcctc tatttttgac ccagatgtcc ccctcacctg agtcccagga
     2941 gcccttggag catccacgtt cagtgtgttg agtgacatgg ctctcttcat tctgcaaaga
     3001 gggcagcagg gaggaaatga gtgaatccag gagtggcccc cctccacgag ggacctttcc
     3061 agcacagggt ttgatctgtg tgtatcacag gggagatggg agccatggaa ggttcttgag
     3121 caagatgggg gtgggggtgg ggtgggctgt ggattctgct gatgtcaggg ctctttgccg
     3181 acctgatcaa cactcacccg gctgctcctg ccgccgcctc gcctcggagc cgggagacca
     3241 gcttctcact tcctcgcctg atagactcac ggatcttgga gagtgagctg ctgcggcgaa
     3301 gggcctgggg aggggccggg gatgctgctc agtcccccag gcccatgcag tccccacgcc
     3361 caccccagga gccgaagcac agcccatcct cacctgttct gcgtcaccag ctgtgcctgt
     3421 gttgggggca cctaggggga aagatggggg acactgagat ggggacatag agaagccacc
     3481 aggagggaag acagacaggg gctaggggct caccgagagg ggcgggtagg tcctccttgt
     3541 ggaggatttc tttgtacagc tcttccgctt gttgatactt gttctgtttc aggtaggctg
     3601 aggcctgcgg agaagggagt gtctgggaac ttttcggacc ccagttccca acactgcatc
     3661 cagtcccgcc tttttttttt tttttgtaga gacaggggtc ttggtatgtt gcccaggctg
     3721 gtcttgaact cctagcctca agtgatcctc ctgccttggc ctcccaaagt gttggggtta
     3781 caagcgtgaa ccaccacgtc tggccccact ttctaatgtg ctgacctggc cgtatccttc
     3841 ccctgcctaa agccttgccc tggggcagag tgggtttgga gctcggcctt acttcctgcc
     3901 ctggggatgg aggacaggca gcctcctgtt tctgagcctg tctgctgtac tttgggctgg
     3961 tggcatggcc tcggtgcctc agtcttccca cacgcaaagt ggagcgacag ctcccacctc
     4021 atagggacgc tataagaact agcgatgtgg ggaccgggct aagaggggag ccggccacag
     4081 tgagctcaat aaatgtctgc tgctgcca
//
LOCUS       NM_000404               2523 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens galactosidase beta 1 (GLB1), transcript variant 1,
            mRNA.
ACCESSION   NM_000404
VERSION     NM_000404.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2523)
  AUTHORS   Phadwal K, Tang QY, Luijten I, Zhao JF, Corcoran B, Semple RK,
            Ganley IG and MacRae VE.
  TITLE     p53 Regulates Mitochondrial Dynamics in Vascular Smooth Muscle Cell
            Calcification
  JOURNAL   Int J Mol Sci 24 (2), 1643 (2023)
   PUBMED   36675156
  REMARK    GeneRIF: p53 Regulates Mitochondrial Dynamics in Vascular Smooth
            Muscle Cell Calcification. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2523)
  AUTHORS   Malvezzi H, Cestari BA, Meola J and Podgaec S.
  TITLE     Higher Oxidative Stress in Endometriotic Lesions Upregulates
            Senescence-Associated p16ink4a and beta-Galactosidase in Stromal
            Cells
  JOURNAL   Int J Mol Sci 24 (2), 914 (2023)
   PUBMED   36674426
  REMARK    GeneRIF: Higher Oxidative Stress in Endometriotic Lesions
            Upregulates Senescence-Associated p16[ink4a] and beta-Galactosidase
            in Stromal Cells. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2523)
  AUTHORS   Martinez-Zamudio RI, Dewald HK, Vasilopoulos T, Gittens-Williams L,
            Fitzgerald-Bocarsly P and Herbig U.
  TITLE     Senescence-associated beta-galactosidase reveals the abundance of
            senescent CD8+ T cells in aging humans
  JOURNAL   Aging Cell 20 (5), e13344 (2021)
   PUBMED   33939265
  REMARK    GeneRIF: Senescence-associated beta-galactosidase reveals the
            abundance of senescent CD8+ T cells in aging humans.
REFERENCE   4  (bases 1 to 2523)
  AUTHORS   Alessio N, Aprile D, Cappabianca S, Peluso G, Di Bernardo G and
            Galderisi U.
  TITLE     Different Stages of Quiescence, Senescence, and Cell Stress
            Identified by Molecular Algorithm Based on the Expression of Ki67,
            RPS6, and Beta-Galactosidase Activity
  JOURNAL   Int J Mol Sci 22 (6), 3102 (2021)
   PUBMED   33803589
  REMARK    GeneRIF: Different Stages of Quiescence, Senescence, and Cell Stress
            Identified by Molecular Algorithm Based on the Expression of Ki67,
            RPS6, and Beta-Galactosidase Activity. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 2523)
  AUTHORS   Regier,D.S., Tifft,C.J. and Rothermel,C.E.
  TITLE     GLB1-Related Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24156116
REFERENCE   6  (bases 1 to 2523)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 2523)
  AUTHORS   Yoshida K, Oshima A, Sakuraba H, Nakano T, Yanagisawa N, Inui K,
            Okada S, Uyama E, Namba R, Kondo K et al.
  TITLE     GM1 gangliosidosis in adults: clinical and molecular analysis of 16
            Japanese patients
  JOURNAL   Ann Neurol 31 (3), 328-332 (1992)
   PUBMED   1353343
REFERENCE   8  (bases 1 to 2523)
  AUTHORS   Oshima A, Tsuji A, Nagao Y, Sakuraba H and Suzuki Y.
  TITLE     Cloning, sequencing, and expression of cDNA for human
            beta-galactosidase
  JOURNAL   Biochem Biophys Res Commun 157 (1), 238-244 (1988)
   PUBMED   3143362
REFERENCE   9  (bases 1 to 2523)
  AUTHORS   Shows,T.B., Scrafford-Wolff,L.R., Brown,J.A. and Meisler,M.H.
  TITLE     GM1-gangliosidosis: chromosome 3 assignment of the
            beta-galactosidase-A gene (beta GALA)
  JOURNAL   Somatic Cell Genet 5 (2), 147-158 (1979)
   PUBMED   113895
REFERENCE   10  (bases 1 to 2523)
  AUTHORS   Shows,T.B., Scrafford-Wolff,L., Brown,J.A. and Meisler,M.
  TITLE     Assignment of a beta-galactosidase gene (beta GALA) to chromosome 3
            in man
  JOURNAL   Cytogenet Cell Genet 22 (1-6), 219-222 (1978)
   PUBMED   110522
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK223091.1, AK130133.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000307363.10/ ENSP00000306920.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC112211.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000404.3.
            Summary: This gene encodes a member of the glycosyl hydrolase 35
            family of proteins. Alternative splicing results in multiple
            transcript variants, at least one of which encodes a preproprotein
            that is proteolytically processed to generate the mature lysosomal
            enzyme. This enzyme catalyzes the hydrolysis of a terminal
            beta-linked galactose residue from ganglioside substrates and other
            glycoconjugates. Mutations in this gene may result in
            GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov
            2015].
            Transcript Variant: This variant (1) encodes the predominant
            isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2523
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.3"
     gene            1..2523
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="galactosidase beta 1"
                     /db_xref="GeneID:2720"
                     /db_xref="HGNC:HGNC:4298"
                     /db_xref="MIM:611458"
     misc_feature    8..10
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="upstream in-frame stop codon"
     CDS             62..2095
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /EC_number="3.2.1.23"
                     /note="isoform a preproprotein is encoded by transcript
                     variant 1; elastin receptor 1, 67kDa; lactase; acid
                     beta-galactosidase; elastin binding protein"
                     /codon_start=1
                     /product="beta-galactosidase isoform a preproprotein"
                     /protein_id="NP_000395.3"
                     /db_xref="CCDS:CCDS43061.1"
                     /db_xref="GeneID:2720"
                     /db_xref="HGNC:HGNC:4298"
                     /db_xref="MIM:611458"
                     /translation="MPGFLVRILPLLLVLLLLGPTRGLRNATQRMFEIDYSRDSFLKDG
                     QPFRYISGSIHYSRVPRFYWKDRLLKMKMAGLNAIQTYVPWNFHEPWPGQYQFSEDHDV
                     EYFLRLAHELGLLVILRPGPYICAEWEMGGLPAWLLEKESILLRSSDPDYLAAVDKWLG
                     VLLPKMKPLLYQNGGPVITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFTTDG
                     AHKTFLKCGALQGLYTTVDFGTGSNITDAFLSQRKCEPKGPLINSEFYTGWLDHWGQPH
                     STIKTEAVASSLYDILARGASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYDAPLSEA
                     GDLTEKYFALRNIIQKFEKVPEGPIPPSTPKFAYGKVTLEKLKTVGAALDILCPSGPIK
                     SLYPLTFIQVKQHYGFVLYRTTLPQDCSNPAPLSSPLNGVHDRAYVAVDGIPQGVLERN
                     NVITLNITGKAGATLDLLVENMGRVNYGAYINDFKGLVSNLTLSSNILTDWTIFPLDTE
                     DAVCSHLGGWGHRDSGHHDEAWAHNSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQFPGW
                     TKGQVWINGFNLGRYWPARGPQLTLFVPQHILMTSAPNTITVLELEWAPCSSDDPELCA
                     VTFVDRPVIGSSVTYDHPSKPVEKRLMPPPPQKNKDSWLDHV"
     sig_peptide     62..130
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    137..139
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16278.2); glycosylation site"
     mat_peptide     146..2092
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /product="Beta-galactosidase. /id=PRO_0000012186"
                     /note="propagated from UniProtKB/Swiss-Prot (P16278.2)"
     misc_feature    800..802
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22128166,
                     ECO:0000269|PubMed:24737316, ECO:0007744|PDB:3THC,
                     ECO:0007744|PDB:3THD, ECO:0007744|PDB:3WEZ,
                     ECO:0007744|PDB:3WF0, ECO:0007744|PDB:3WF1,
                     ECO:0007744|PDB:3WF2, ECO:0007744|PDB:3WF3,
                     ECO:0007744|PDB:3WF4; propagated from UniProtKB/Swiss-Prot
                     (P16278.2); glycosylation site"
     misc_feature    1451..1453
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16263699,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:22128166,
                     ECO:0000269|PubMed:24737316, ECO:0007744|PDB:3THC,
                     ECO:0007744|PDB:3THD, ECO:0007744|PDB:3WEZ,
                     ECO:0007744|PDB:3WF0, ECO:0007744|PDB:3WF1,
                     ECO:0007744|PDB:3WF2, ECO:0007744|PDB:3WF3,
                     ECO:0007744|PDB:3WF4; propagated from UniProtKB/Swiss-Prot
                     (P16278.2); glycosylation site"
     misc_feature    1553..1555
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22128166,
                     ECO:0000269|PubMed:24737316, ECO:0007744|PDB:3THC,
                     ECO:0007744|PDB:3THD, ECO:0007744|PDB:3WEZ,
                     ECO:0007744|PDB:3WF0, ECO:0007744|PDB:3WF1,
                     ECO:0007744|PDB:3WF2, ECO:0007744|PDB:3WF3,
                     ECO:0007744|PDB:3WF4; propagated from UniProtKB/Swiss-Prot
                     (P16278.2); glycosylation site"
     misc_feature    1685..1687
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16278.2); glycosylation site"
     misc_feature    1694..1696
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16278.2); glycosylation site"
     misc_feature    1724..1726
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:22128166, ECO:0000269|PubMed:24737316,
                     ECO:0007744|PDB:3THC, ECO:0007744|PDB:3THD,
                     ECO:0007744|PDB:3WEZ, ECO:0007744|PDB:3WF0,
                     ECO:0007744|PDB:3WF1, ECO:0007744|PDB:3WF2,
                     ECO:0007744|PDB:3WF3, ECO:0007744|PDB:3WF4; propagated from
                     UniProtKB/Swiss-Prot (P16278.2); glycosylation site"
     misc_feature    2009..2092
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="propagated from UniProtKB/Swiss-Prot (P16278.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2391..2396
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="hexamer: AATAAA"
     polyA_site      2409
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="major polyA site"
     regulatory      2489..2494
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="hexamer: AATAAA"
     polyA_site      2523
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
ORIGIN
        1 agtcaagtga cgcgaagcgg ccggcctggg cgccgactgc agagccggga ggctggtggt
       61 catgccgggg ttcctggttc gcatcctccc tctgttgctg gttctgctgc ttctgggccc
      121 tacgcgcggc ttgcgcaatg ccacccagag gatgtttgaa attgactata gccgggactc
      181 cttcctcaag gatggccagc catttcgcta catctcagga agcattcact actcccgtgt
      241 gccccgcttc tactggaagg accggctgct gaagatgaag atggctgggc tgaacgccat
      301 ccagacgtat gtgccctgga actttcatga gccctggcca ggacagtacc agttttctga
      361 ggaccatgat gtggaatatt ttcttcggct ggctcatgag ctgggactgc tggttatcct
      421 gaggcccggg ccctacatct gtgcagagtg ggaaatggga ggattacctg cttggctgct
      481 agagaaagag tctattcttc tccgctcctc cgacccagat tacctggcag ctgtggacaa
      541 gtggttggga gtccttctgc ccaagatgaa gcctctcctc tatcagaatg gagggccagt
      601 tataacagtg caggttgaaa atgaatatgg cagctacttt gcctgtgatt ttgactacct
      661 gcgcttcctg cagaagcgct ttcgccacca tctgggggat gatgtggttc tgtttaccac
      721 tgatggagca cataaaacat tcctgaaatg tggggccctg cagggcctct acaccacggt
      781 ggactttgga acaggcagca acatcacaga tgctttccta agccagagga agtgtgagcc
      841 caaaggaccc ttgatcaatt ctgaattcta tactggctgg ctagatcact ggggccaacc
      901 tcactccaca atcaagaccg aagcagtggc ttcctccctc tatgatatac ttgcccgtgg
      961 ggcgagtgtg aacttgtaca tgtttatagg tgggaccaat tttgcctatt ggaatggggc
     1021 caactcaccc tatgcagcac agcccaccag ctacgactat gatgccccac tgagtgaggc
     1081 tggggacctc actgagaagt attttgctct gcgaaacatc atccagaagt ttgaaaaagt
     1141 accagaaggt cctatccctc catctacacc aaagtttgca tatggaaagg tcactttgga
     1201 aaagttaaag acagtgggag cagctctgga cattctgtgt ccctctgggc ccatcaaaag
     1261 cctttatccc ttgacattta tccaggtgaa acagcattat gggtttgtgc tgtaccggac
     1321 aacacttcct caagattgca gcaacccagc acctctctct tcacccctca atggagtcca
     1381 cgatcgagca tatgttgctg tggatgggat cccccaggga gtccttgagc gaaacaatgt
     1441 gatcactctg aacataacag ggaaagctgg agccactctg gaccttctgg tagagaacat
     1501 gggacgtgtg aactatggtg catatatcaa cgattttaag ggtttggttt ctaacctgac
     1561 tctcagttcc aatatcctca cggactggac gatctttcca ctggacactg aggatgcagt
     1621 gtgcagccac ctggggggct ggggacaccg tgacagtggc caccatgatg aagcctgggc
     1681 ccacaactca tccaactaca cgctcccggc cttttatatg gggaacttct ccattcccag
     1741 tgggatccca gacttgcccc aggacacctt tatccagttt cctggatgga ccaagggcca
     1801 ggtctggatt aatggcttta accttggccg ctattggcca gcccggggcc ctcagttgac
     1861 cttgtttgtg ccccagcaca tcctgatgac ctcggcccca aacaccatca ccgtgctgga
     1921 actggagtgg gcaccctgca gcagtgatga tccagaacta tgtgctgtga cgttcgtgga
     1981 caggccagtt attggctcat ctgtgaccta cgatcatccc tccaaacctg ttgaaaaaag
     2041 actcatgccc ccacccccgc aaaaaaacaa agattcatgg ctggaccatg tatgatgatg
     2101 aaagcctgtg tctttgaggg attctaccct gaacatacct cacagatcct ccctgtcatg
     2161 ccacatttca ctgattggaa tgtggaaatg gaaaaggaat ttaggatgtg cattttcacc
     2221 tgaggtttcc ctgcatccct gcagtgccaa agccccacct tcagggacca cctggaatgt
     2281 gtgaggggct gacagcacag taacgtgcat acatatctgc agggctggaa tggaagcttt
     2341 aaaggtggta gtgattttta ttttggaaga atcatgttac ctttttgtta aataaaattt
     2401 gtactcaaat gatgatgtca ctgtttttaa tgtgcaggta ttgaattata tggtctgact
     2461 taaatcataa ctagacttga gtgggctgaa taaaccactt cactaacttg aagttcaaaa
     2521 gga
//
LOCUS       NM_000405               3603 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens ganglioside GM2 activator (GM2A), transcript variant 1,
            mRNA.
ACCESSION   NM_000405
VERSION     NM_000405.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3603)
  AUTHORS   Inci A, Cengiz Ergin FB, Biberoglu G, Okur I, Ezgu FS and Tumer L.
  TITLE     Two patients from Turkey with a novel variant in the GM2A gene and
            review of the literature
  JOURNAL   J Pediatr Endocrinol Metab 34 (6), 805-812 (2021)
   PUBMED   33819415
  REMARK    GeneRIF: Two patients from Turkey with a novel variant in the GM2A
            gene and review of the literature. Review article Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 3603)
  AUTHORS   Bedia C, Badia M, Muixi L, Levade T, Tauler R and Sierra A.
  TITLE     GM2-GM3 gangliosides ratio is dependent on GRP94 through
            down-regulation of GM2-AP cofactor in brain metastasis cells
  JOURNAL   Sci Rep 9 (1), 14241 (2019)
   PUBMED   31578452
  REMARK    GeneRIF: GM2-GM3 gangliosides ratio is dependent on GRP94 through
            down-regulation of GM2-AP cofactor in brain metastasis cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3603)
  AUTHORS   Sandhoff K.
  TITLE     Neuronal sphingolipidoses: Membrane lipids and sphingolipid
            activator proteins regulate lysosomal sphingolipid catabolism
  JOURNAL   Biochimie 130, 146-151 (2016)
   PUBMED   27157270
  REMARK    GeneRIF: Studies indicate that sphingolipid activator proteins
            (SAPs) and anionic lipids are essential stimulators to reach
            physiological rates of lysosomal sphingolipid degradation. Review
            article
REFERENCE   4  (bases 1 to 3603)
  AUTHORS   Sheth J, Datar C, Mistri M, Bhavsar R, Sheth F and Shah K.
  TITLE     GM2 gangliosidosis AB variant: novel mutation from India - a case
            report with a review
  JOURNAL   BMC Pediatr 16, 88 (2016)
   PUBMED   27402091
  REMARK    GeneRIF: Review of GM2A mutations causing GM2 activator protein
            deficiency and GM2 gangliosidosis-AB variant. Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3603)
  AUTHORS   Xiao,C., Toro,C. and Tifft,C.
  TITLE     GM2 Activator Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   36007105
REFERENCE   6  (bases 1 to 3603)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 3603)
  AUTHORS   Xie B, Kennedy JL, McInnes B, Auger D and Mahuran D.
  TITLE     Identification of a processed pseudogene related to the functional
            gene encoding the GM2 activator protein: localization of the
            pseudogene to human chromosome 3 and the functional gene to human
            chromosome 5
  JOURNAL   Genomics 14 (3), 796-798 (1992)
   PUBMED   1427911
REFERENCE   8  (bases 1 to 3603)
  AUTHORS   Nagarajan S, Chen HC, Li SC, Li YT and Lockyer JM.
  TITLE     Evidence for two cDNA clones encoding human GM2-activator protein
  JOURNAL   Biochem J 282 (Pt 3) (Pt 3), 807-813 (1992)
   PUBMED   1554364
REFERENCE   9  (bases 1 to 3603)
  AUTHORS   Klima H, Tanaka A, Schnabel D, Nakano T, Schroder M, Suzuki K and
            Sandhoff K.
  TITLE     Characterization of full-length cDNAs and the gene coding for the
            human GM2 activator protein
  JOURNAL   FEBS Lett 289 (2), 260-264 (1991)
   PUBMED   1915857
REFERENCE   10  (bases 1 to 3603)
  AUTHORS   Li,S.C., Nakamura,T., Ogamo,A. and Li,Y.T.
  TITLE     Evidence for the presence of two separate protein activators for the
            enzymic hydrolysis of GM1 and GM2 gangliosides
  JOURNAL   J Biol Chem 254 (21), 10592-10595 (1979)
   PUBMED   115863
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.27033.1,
            SRR1803617.237572.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000357164.4/ ENSP00000349687.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM834780.1, X61095.1 and
            AC008385.7.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000405.4.
            Summary: This gene encodes a small glycolipid transport protein
            which acts as a substrate specific co-factor for the lysosomal
            enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with
            GM2 ganglioside activator, catalyzes the degradation of the
            ganglioside GM2, and other molecules containing terminal N-acetyl
            hexosamines. Mutations in this gene result in GM2-gangliosidosis
            type AB or the AB variant of Tay-Sachs disease. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Nov 2009].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3603
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.1"
     gene            1..3603
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /note="ganglioside GM2 activator"
                     /db_xref="GeneID:2760"
                     /db_xref="HGNC:HGNC:4367"
                     /db_xref="MIM:613109"
     misc_feature    6..8
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /note="upstream in-frame stop codon"
     CDS             33..614
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; cerebroside sulfate activator protein; sphingolipid
                     activator protein 3; shingolipid activator protein 3;
                     GM2-activator protein; GM2 ganglioside activator"
                     /codon_start=1
                     /product="ganglioside GM2 activator isoform 1 precursor"
                     /protein_id="NP_000396.2"
                     /db_xref="CCDS:CCDS4313.1"
                     /db_xref="GeneID:2760"
                     /db_xref="HGNC:HGNC:4367"
                     /db_xref="MIM:613109"
                     /translation="MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDP
                     AVIRSLTLEPDPIIVPGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIG
                     SCTFEHFCDVLDMLIPTGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWL
                     TTGNYRIESVLSSSGKRLGCIKIAASLKGI"
     sig_peptide     33..101
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    219..221
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P17900.4); glycosylation site"
     regulatory      2382..2387
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /note="hexamer: AATAAA"
     polyA_site      2401
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /note="major polyA site"
     regulatory      3527..3532
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /note="hexamer: AATAAA"
     regulatory      3540..3545
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /note="hexamer: AGTAAA"
     regulatory      3551..3556
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
                     /note="hexamer: AATAAA"
     polyA_site      3552
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
     polyA_site      3557
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
     polyA_site      3577
                     /gene="GM2A"
                     /gene_synonym="GM2-AP; GM2AP; SAP-3"
ORIGIN
        1 gcagttaact ccgccctgac ccacccttcc cgatgcagtc cctgatgcag gctcccctcc
       61 tgatcgccct gggcttgctt ctcgcggccc ctgcgcaagc ccacctgaaa aagccatccc
      121 agctcagtag cttttcctgg gataactgtg atgaagggaa ggaccctgcg gtgatcagaa
      181 gcctgactct ggagcctgac cccatcatcg ttcctggaaa tgtgaccctc agtgtcatgg
      241 gcagcaccag tgtccccctg agttctcctc tgaaggtgga tttagttttg gagaaggagg
      301 tggctggcct ctggatcaag atcccatgca cagactacat tggcagctgt acctttgaac
      361 acttctgtga tgtgcttgac atgttaattc ctactgggga gccctgccca gagcccctgc
      421 gtacctatgg gcttccttgc cactgtccct tcaaagaagg aacctactca ctgcccaaga
      481 gcgaattcgt tgtgcctgac ctggagctgc ccagttggct caccaccggg aactaccgca
      541 tagagagcgt cctgagcagc agtgggaagc gtctgggctg catcaagatc gctgcctctc
      601 taaagggcat ataacatggc atctgccaca gcagaatgga gcggtgtgag gaaggtccct
      661 tttcctctgt tttgtgtttg ccaaggccaa actcccactc tctgcccccc tttaatcccc
      721 tttctacagt gagtccacta ccctcactga aaatcatttt gtaccactta cattttaggc
      781 tggggcaagc agccctgacc taagggagaa tgagttggac agttcttgat agcccagggc
      841 atctgctggg ctgaccacgt tactcatccc cgttaacatt ctctctaaag agcctcgttc
      901 atttccaaag cagttaagga atgggaacca gagtgtttta ggacctgaag aatctttatg
      961 actctctctc tttcactctt tttttttttt gtcactaagt taaaagcgaa gtgagagtat
     1021 taacgttttt gttctcctcc ggccccctgt tacaatgaag gggcaaaagt atttgctctt
     1081 agtctattcc tcccttaact tctgtgacta atttttattt cctttctaga tttgcccaat
     1141 taatactagg gtgcagtgta tcctggagag gtagggtgtg tgggggagga atcccttggg
     1201 ggagatatta ggagtgctct gttgtttaca aactcaggta cccgcagggc ctagcaagag
     1261 acttaaatga ctgataagaa ccgtgagaaa catgttgctt ccaggcttga tttcgatttt
     1321 tcgctttttt tttttttgag acagaatctc actttgtcac caggctggag tgcagtggtg
     1381 caatctcacc tcactgcaac ctccgcctcc tgggttcaag caattctcct gcctcagcct
     1441 cccaagtagc ttggactaca ggccctgcca ccacgcccgg ctaatttgtg tatttttagt
     1501 agagatgggg tttcaccatg ttggccagga tggtctcgat ctcttgacct cgtgatctgt
     1561 ccaccttggc cttgcaaagc gctggattac aggcatgagc cactacaccc agccgatttt
     1621 tcctttttga ttaaagatgc tattacaatg taaatatttc ttacacagaa agtcacagca
     1681 catgtgccca ttgatacaag gctgctgagg cctggtctcc agttggaaat ataattaagg
     1741 gtggcaagga ctggagtcag ttggagagtg catagccagt ctgtgaagac aactgccaga
     1801 tactggcaat actccagcct ggtgacagag tgagactctg tctcaaaaaa aaagtttcaa
     1861 tgtttactcc tagagaagcc aaaaatccag atttgtatat gaaatcttac cattttaaaa
     1921 gattggcagc taattatttt tttaaaaagc tgtgcagtgt gatgtgtccc aaacggactg
     1981 gctcatgggt ggccacgtca caacctctga tctcagaccg tgcatgcctt gtcctcttaa
     2041 gacaactcct gtggcaccgt ttctccctcc acagggccaa agccatagtg tccggtccca
     2101 aggacaaggc tcttccagtg ctaggagagg tatgagcagc ctctcacctg tgagctgtgg
     2161 ggatcacaag gctgcctgcc tcagtcttgg agtcctgttg ggtgaatgag gcagatggga
     2221 aagagcctca ccagcagctg cttttggagc aggggtccaa ggaagagagg gtggcctcga
     2281 catcaaactg cctggatttt tctaccaccc tgttacatca taacaacttc tgaaacacac
     2341 accagccctg agttctgggc tcatttgaag cctggaatag caataaatct ttttaacttg
     2401 cggacagttt ccccttgcct tggctgcata tttcactgat cacatctcag gatttcaaaa
     2461 gcatttttgg ggtggggctc ttttggttgg aagggtttgt tggaacggta caggtgagcc
     2521 gaggtgattc cagggacgga cccttctgca ggagcttgag cttgcttgtt gtctctgctt
     2581 catcgccatc cagctccctt gtttgctatt ttgctttcca tcacatcatg actgcggaga
     2641 gcaaaaatca cctagtgacc attgaacagg tcccagagac aaaatctttt tatctgagga
     2701 atttaaaagg gagcaaagac cacctggtga ctatcaggcc atgcagaggc aaaacgcctt
     2761 atttggggaa aattaaaagt aattagactt tcctattatc taaagcaggc atctggttcc
     2821 agatttcttt tccccgaaaa aaaccttaga agtaactaaa atttctgtac atctccggaa
     2881 tgccatgctg aaactcactg caaccccacg gtcccgcttt aaggtccata aatatcccta
     2941 aggaaaaatc caccgtggta cattcagtcc tctcaccgag gtgccccatg gcagtcttct
     3001 gcagcattct tctaatacct ttcctttttc aaacctatac tgttgttggt gaattctttt
     3061 taccaaccca cgagttgacc acttcccaat gccggggatc tgacacctca cctggcaatg
     3121 acctccacag ccgtttccct ctgttggatc ttccagcctt attctcaaca gttcattttt
     3181 agttcacatt cttgaccgaa tctcagtagc tcagttaatc tttttatgtc tgctctgctc
     3241 ttgggtcata tgttccgtga ggtttcttag gggtggggga tgaggagtta aaggtggcat
     3301 cttcaatcgc aggtcaaagc agactttaat aaatggtgct gagccaactg gaaagcccct
     3361 tggagaaagt tgaagttaga cctgtacttc acaccatatg caagaatgaa ctccatctgg
     3421 atccaggatc caaatgtaag aaaatgaagc catataaata cagaaggaaa cgtggtggaa
     3481 atatccagtg gcaacaaaat attgacacat ttgactacat gaagataata aaaatgctta
     3541 gtaaaaacac aataaaatca aatgactggg agaaaaattt atccagccta tataatagac
     3601 aaa
//
LOCUS       NM_000406               4402 bp    mRNA    linear   PRI 17-MAR-2023
DEFINITION  Homo sapiens gonadotropin releasing hormone receptor (GNRHR),
            transcript variant 1, mRNA.
ACCESSION   NM_000406
VERSION     NM_000406.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4402)
  AUTHORS   Li X, Zhang X, Shen Z, Chen Z, Wang H and Zhang X.
  TITLE     GnRH receptor mediates lipid storage in female adipocytes via AMPK
            pathway
  JOURNAL   Int J Med Sci 19 (9), 1442-1450 (2022)
   PUBMED   36035370
  REMARK    GeneRIF: GnRH receptor mediates lipid storage in female adipocytes
            via AMPK pathway. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4402)
  AUTHORS   Barczynski B, Fraszczak K, Wertel I, Zakrzewska E, Zdunek M, Szumilo
            J and Kotarski J.
  TITLE     Immunohistochemical Expression of LHRH Receptor in Different
            Compartments of Female Genital Tract in Patients With Endometrial
            Cancer
  JOURNAL   Appl Immunohistochem Mol Morphol 30 (7), 509-516 (2022)
   PUBMED   35777983
  REMARK    GeneRIF: Immunohistochemical Expression of LHRH Receptor in
            Different Compartments of Female Genital Tract in Patients With
            Endometrial Cancer.
REFERENCE   3  (bases 1 to 4402)
  AUTHORS   Chen CP and Lu X.
  TITLE     Gonadotropin-releasing hormone receptor inhibits triple-negative
            breast cancer proliferation and metastasis
  JOURNAL   J Int Med Res 50 (3), 3000605221082895 (2022)
   PUBMED   35264044
  REMARK    GeneRIF: Gonadotropin-releasing hormone receptor inhibits
            triple-negative breast cancer proliferation and metastasis.
REFERENCE   4  (bases 1 to 4402)
  AUTHORS   Weng SL, Tzeng SL, Lee CI, Liu CH, Huang CC, Yang SF, Lee MS and Lee
            TH.
  TITLE     Association between GnRH Receptor Polymorphisms and Luteinizing
            Hormone Levels for Low Ovarian Reserve Infertile Women
  JOURNAL   Int J Environ Res Public Health 18 (13), 7006 (2021)
   PUBMED   34209056
  REMARK    GeneRIF: Association between GnRH Receptor Polymorphisms and
            Luteinizing Hormone Levels for Low Ovarian Reserve Infertile Women.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4402)
  AUTHORS   Makretskaya NA, Gerasimova MV, Vasilyev EV, Zubkova NA, Kalinchenko
            NY, Kolodkina AA, Petrov VM, Pogoda TV, Panova AV, Frolova EB,
            Poliakov AV and Tiulpakov AN.
  TITLE     [Clinical and molecular genetic features of cases of isolated
            hypogonadotropic hypogonadism, associated with defects in GNRHR
            genes]
  JOURNAL   Probl Endokrinol (Mosk) 67 (3), 62-67 (2021)
   PUBMED   34297503
  REMARK    GeneRIF: [Clinical and molecular genetic features of cases of
            isolated hypogonadotropic hypogonadism, associated with defects in
            GNRHR genes]. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4402)
  AUTHORS   Leung PC, Squire J, Peng C, Fan N, Hayden MR and Olofsson JI.
  TITLE     Mapping of the gonadotropin-releasing hormone (GnRH) receptor gene
            to human chromosome 4q21.2 by fluorescence in situ hybridization
  JOURNAL   Mamm Genome 6 (4), 309-310 (1995)
   PUBMED   7613048
REFERENCE   7  (bases 1 to 4402)
  AUTHORS   Fan NC, Peng C, Krisinger J and Leung PC.
  TITLE     The human gonadotropin-releasing hormone receptor gene: complete
            structure including multiple promoters, transcription initiation
            sites, and polyadenylation signals
  JOURNAL   Mol Cell Endocrinol 107 (2), R1-R8 (1995)
   PUBMED   7768323
  REMARK    GeneRIF: Reports complete structure of human gonadotropin-releasing
            hormone receptor gene with figure 2 showing multiple promoters,
            transcription sites, and polyadenylation signals.
REFERENCE   8  (bases 1 to 4402)
  AUTHORS   Kakar SS, Grizzle WE and Neill JD.
  TITLE     The nucleotide sequences of human GnRH receptors in breast and
            ovarian tumors are identical with that found in pituitary
  JOURNAL   Mol Cell Endocrinol 106 (1-2), 145-149 (1994)
   PUBMED   7534732
REFERENCE   9  (bases 1 to 4402)
  AUTHORS   Balasubramanian,R. and Crowley,W.F. Jr.
  TITLE     Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301509
REFERENCE   10  (bases 1 to 4402)
  AUTHORS   Kakar SS, Musgrove LC, Devor DC, Sellers JC and Neill JD.
  TITLE     Cloning, sequencing, and expression of human gonadotropin releasing
            hormone (GnRH) receptor
  JOURNAL   Biochem Biophys Res Commun 189 (1), 289-295 (1992)
   PUBMED   1333190
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: S60587.1, L07949.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03267753,
            SAMN03267755 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000226413.5/ ENSP00000226413.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079880.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 5, 2019 this sequence version replaced NM_000406.2.
            Summary: This gene encodes the receptor for type 1
            gonadotropin-releasing hormone. This receptor is a member of the
            seven-transmembrane, G-protein coupled receptor (GPCR) family. It
            is expressed on the surface of pituitary gonadotrope cells as well
            as lymphocytes, breast, ovary, and prostate. Following binding of
            gonadotropin-releasing hormone, the receptor associates with
            G-proteins that activate a phosphatidylinositol-calcium second
            messenger system. Activation of the receptor ultimately causes the
            release of gonadotropic luteinizing hormone (LH) and follicle
            stimulating hormone (FSH). Defects in this gene are a cause of
            hypogonadotropic hypogonadism (HH). Alternative splicing results in
            multiple transcript variants encoding different isoforms. More than
            18 transcription initiation sites in the 5' region and multiple
            polyA signals in the 3' region have been identified for this gene.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4402
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.2"
     gene            1..4402
                     /gene="GNRHR"
                     /gene_synonym="GNRHR1; GRHR; HH7; LHRHR; LRHR"
                     /note="gonadotropin releasing hormone receptor"
                     /db_xref="GeneID:2798"
                     /db_xref="HGNC:HGNC:4421"
                     /db_xref="MIM:138850"
     CDS             54..1040
                     /gene="GNRHR"
                     /gene_synonym="GNRHR1; GRHR; HH7; LHRHR; LRHR"
                     /note="isoform 1 is encoded by transcript variant 1; type I
                     GnRH receptor; gonadotropin-releasing hormone (type 1)
                     receptor 1; leutinizing hormone releasing horomone
                     receptor; luliberin receptor; leutinizing-releasing hormone
                     receptor; gnRH-R; gnRH receptor"
                     /codon_start=1
                     /product="gonadotropin-releasing hormone receptor isoform
                     1"
                     /protein_id="NP_000397.1"
                     /db_xref="CCDS:CCDS3517.1"
                     /db_xref="GeneID:2798"
                     /db_xref="HGNC:HGNC:4421"
                     /db_xref="MIM:138850"
                     /translation="MANSASPEQNQNHCSAINNSIPLMQGNLPTLTLSGKIRVTVTFFL
                     FLLSATFNASFLLKLQKWTQKKEKGKKLSRMKLLLKHLTLANLLETLIVMPLDGMWNIT
                     VQWYAGELLCKVLSYLKLFSMYAPAFMMVVISLDRSLAITRPLALKSNSKVGQSMVGLA
                     WILSSVFAGPQLYIFRMIHLADSSGQTKVFSQCVTHCSFSQWWHQAFYNFFTFSCLFII
                     PLFIMLICNAKIIFTLTRVLHQDPHELQLNQSKNNIPRARLKTLKMTVAFATSFTVCWT
                     PYYVLGIWYWFDPEMLNRLSDPVNHFFFLFAFLNPCFDPLIYGYFSL"
     misc_feature    105..107
                     /gene="GNRHR"
                     /gene_synonym="GNRHR1; GRHR; HH7; LHRHR; LRHR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30968.1); glycosylation site"
     misc_feature    168..227
                     /gene="GNRHR"
                     /gene_synonym="GNRHR1; GRHR; HH7; LHRHR; LRHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P30968.1);
                     transmembrane region"
     misc_feature    285..344
                     /gene="GNRHR"
                     /gene_synonym="GNRHR1; GRHR; HH7; LHRHR; LRHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P30968.1);
                     transmembrane region"
     misc_feature    357..359
                     /gene="GNRHR"
                     /gene_synonym="GNRHR1; GRHR; HH7; LHRHR; LRHR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30968.1); glycosylation site"
     misc_feature    399..464
                     /gene="GNRHR"
                     /gene_synonym="GNRHR1; GRHR; HH7; LHRHR; LRHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P30968.1);
                     transmembrane region"
     misc_feature    546..605
                     /gene="GNRHR"
                     /gene_synonym="GNRHR1; GRHR; HH7; LHRHR; LRHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P30968.1);
                     transmembrane region"
     misc_feature    690..749
                     /gene="GNRHR"
                     /gene_synonym="GNRHR1; GRHR; HH7; LHRHR; LRHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P30968.1);
                     transmembrane region"
     misc_feature    897..953
                     /gene="GNRHR"
                     /gene_synonym="GNRHR1; GRHR; HH7; LHRHR; LRHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P30968.1);
                     transmembrane region"
     misc_feature    972..1031
                     /gene="GNRHR"
                     /gene_synonym="GNRHR1; GRHR; HH7; LHRHR; LRHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P30968.1);
                     transmembrane region"
     regulatory      4382..4387
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNRHR"
                     /gene_synonym="GNRHR1; GRHR; HH7; LHRHR; LRHR"
                     /note="hexamer: AATAAA"
     polyA_site      4402
                     /gene="GNRHR"
                     /gene_synonym="GNRHR1; GRHR; HH7; LHRHR; LRHR"
                     /note="major polyA site"
ORIGIN
        1 aaaatatcag atgcaccaga gacacaaggc ttgaagctct gtcctgggaa aatatggcaa
       61 acagtgcctc tcctgaacag aatcaaaatc actgttcagc catcaacaac agcatcccac
      121 tgatgcaggg caacctcccc actctgacct tgtctggaaa gatccgagtg acggttactt
      181 tcttcctttt tctgctctct gcgaccttta atgcttcttt cttgttgaaa cttcagaagt
      241 ggacacagaa gaaagagaaa gggaaaaagc tctcaagaat gaagctgctc ttaaaacatc
      301 tgaccttagc caacctgttg gagactctga ttgtcatgcc actggatggg atgtggaaca
      361 ttacagtcca atggtatgct ggagagttac tctgcaaagt tctcagttat ctaaagcttt
      421 tctccatgta tgccccagcc ttcatgatgg tggtgatcag cctggaccgc tccctggcta
      481 tcacgaggcc cctagctttg aaaagcaaca gcaaagtcgg acagtccatg gttggcctgg
      541 cctggatcct cagtagtgtc tttgcaggac cacagttata catcttcagg atgattcatc
      601 tagcagacag ctctggacag acaaaagttt tctctcaatg tgtaacacac tgcagttttt
      661 cacaatggtg gcatcaagca ttttataact ttttcacctt cagctgcctc ttcatcatcc
      721 ctcttttcat catgctgatc tgcaatgcaa aaatcatctt caccctgaca cgggtccttc
      781 atcaggaccc ccacgaacta caactgaatc agtccaagaa caatatacca agagcacggc
      841 tgaagactct aaaaatgacg gttgcatttg ccacttcatt tactgtctgc tggactccct
      901 actatgtcct aggaatttgg tattggtttg atcctgaaat gttaaacagg ttgtcagacc
      961 cagtaaatca cttcttcttt ctctttgcct ttttaaaccc atgctttgat ccacttatct
     1021 atggatattt ttctctgtga ttgatagact acacaagaag tcatatgaag aagggtaagg
     1081 taatgaatct ctccatctgg gaatgattaa cacaaatgtt ggagcatgtt tacatacaaa
     1141 caaagtagga tttacactta agttatcatt cttttagaaa ctcagtcttc agagcctcaa
     1201 ttattaagga aaagtcttca ggaaaaatac taaaatattt tctcttcctc ataagcttct
     1261 aaattaatct ctgccttttc tgacctcata taacacatta tgtaggtttc ttatcacttt
     1321 ctctttgcat aataatgtac taatatttaa aataccttca gcctaaggca caaggatgcc
     1381 aaaaaaacaa aggtgagaaa ccacaacaca ggtctaaact cagcatgctt tggtgagttt
     1441 ttctccaaaa ggggcatatt agcaattaga gttgtatgct atataataca tagagcacag
     1501 agccctttgc ccataatatc aactttccct cctatagtta aaaagaaaaa aaatgaatct
     1561 atttttctct ttggcttcaa aagcattctg acatttggag gagtcagtaa ccaatcccac
     1621 caaccactcc agcaacctga caagactatg agtagttctc cttcatccta tttatgtggt
     1681 acaggttgtg aagtatctct atataaaggg aaattttaga ggggttagga tttggacagg
     1741 ggtttagaac attcctctaa gctatctagt ctgtggagtt tgtggcaatt aattgccata
     1801 aaataacaat gtttccaaat gcaactaaga aaatactcat agtgagtacg ctctatgcat
     1861 agtatgactt ctattttaat gtgaagaatt ttttgtctct ctcctgatct tactaaatcc
     1921 atatttcata aataactgag aataattaaa acaaaattaa gcaaatgcac aagcaaaaag
     1981 atgcttgata cacaaaagga actctggaga gaaaactaca gcttcagtct gtacagatca
     2041 aagaagacag aacatgtcag gggaaggagg gaaagatctt gatgcagggt ttcttaacct
     2101 gcagtctatg cacaacacta tatttccatg taatgttttt atttcagccc tatttgtatt
     2161 attttgtgca tttaaaaaac acaatcttaa ggggatagac tagactgcca cagcagccca
     2221 tggcacaact aacacctact gatattcaca ttaaatagta tggtttccaa aatatgtctg
     2281 cacaacaaga cctctttatg taattcaggc ttgtgtctac ctcttccatg aaaaatggaa
     2341 agggatgaaa ataatgggag tataataccc atttaatgtg aaaaacataa gagtcttaaa
     2401 agaaattaag ccatttaaca ttttttaaat aggtaagata ccattatatt tatatgagct
     2461 atgtactgcc acaaaaaaag atgaaatgta atttctaaat actccaggtg tgtggtatta
     2521 tggaaagcaa attgccaact aatggcacgt cctttctttc tttgattttc tcctctcata
     2581 cttcagtttt atagtgttgt gttgttgttt ttttcatatc ctaccttact ttccaattct
     2641 gtctcaattg aactccctct gtctactcac tctttcattc atagcttctt ttccattaaa
     2701 ctcatacctt taattaacca attcatggcc cagttctaca gttgaattgg acaaggctaa
     2761 aattctgtag tgtgctaaaa tgctcaagtt ggcacataaa cccattccaa gattttatag
     2821 ttcttgtaga taacacaggg atgtagataa gttgaaacaa aaccagtgtc ctctaagtct
     2881 ctatcatata cttattccta aactgataat tcttacttct ggatttaaaa tcaaaaataa
     2941 cacacttgta cagatacaat ctaagggctt tatcacacac gtgttaacga atgtatctca
     3001 gcttggttct tcttgtgtgc tcattatgga tctctctgtc ttaggaattg cctcaggcat
     3061 tttttttttt tacacattaa ctaaagggct attcgaaatc ttgactcagg ggttcttaac
     3121 ctacatttca tgcaaaaaat atatatattt caatgtattt tttattttag tcctatttgt
     3181 attattttat gcatttaaaa acacagtcct gagagggatg gaccagactg ccacagcagc
     3241 tcatagcaca aaaaaaggtt aagaagtcct agttgacttt gtatatatat aaagaaatct
     3301 attacaataa aaatataaca taatctattc atctatttat atgcaaacat aaaaatgtaa
     3361 atattgaaac aagattgctt caatatgctt attgttttca aaccaacaaa ctctcttaag
     3421 gttcaatatg taataaaaaa cataacacaa ataattattc tatatgaata ttatggttca
     3481 taaattataa tgtataatct atacattata atgtaatata taaactaaaa tttatggcac
     3541 aaaagataaa tatggctttg aaattaaaga tattccactc aacagacaat atttcatatt
     3601 tgatattaca atcatttatt ttatgtccta ttataataaa aggtgaggac tccttgtaaa
     3661 aaaggaaatg ttccacagag tcaatctaat atatcagata ttggagattc tatcttggtt
     3721 tctcttcctt tacttagcct ataaaactag ttaaaaatgg aatttctttt agcaattcag
     3781 tttagtacag gagtgacatt aactaatgac aataaattaa acaaagccta cattagttca
     3841 atttaagcct attcaacaga aatatagaaa tatagtagct aaaaaaatac tctggggaag
     3901 gtaccacaaa cattatctac cagggaacat agcataaatt agtctgaaat ttcctgagag
     3961 tgactttgtc ttagaactta ggtggtagtc atgaagagat aatgttttta ggcagttaaa
     4021 atacttctag aactccatct attttacctg tggtccactt tcctacattg aaccaatgcc
     4081 ttgggcttct ctaattacta tacattgtgc tcatatgaat aaaagaaatt ttaaaagaaa
     4141 aaaaatcaga ttcaatataa tcttgcttat catttttatg attattagga atcaagttta
     4201 aaacaattag tctaacttta aaagttatat aaaatgtatg catagcagca atagataaac
     4261 atatatgaaa actgttaata tagttatctg catgatttct taaaaatttc ttccttgtga
     4321 attcctgtaa ttccaaattc ccaaaatgaa ctcatattgc atgtgtatta agagaaaaca
     4381 taataaatgt tatatgtgtg tg
//
LOCUS       NM_000407                959 bp    mRNA    linear   PRI 16-MAR-2023
DEFINITION  Homo sapiens glycoprotein Ib platelet subunit beta (GP1BB), mRNA.
ACCESSION   NM_000407
VERSION     NM_000407.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 959)
  AUTHORS   Barozzi S, Pecci A, Marinoni M, Fontana G, Zanchetta ME, Noris P,
            Savoia A and Faleschini M.
  TITLE     GP1BB c.179C > T is the most frequent cause of monoallelic
            Bernard-Soulier syndrome in the Italian population after the Bolzano
            variant: a report of two new families
  JOURNAL   Ann Hematol 102 (3), 677-679 (2023)
   PUBMED   36539614
  REMARK    GeneRIF: GP1BB c.179C > T is the most frequent cause of monoallelic
            Bernard-Soulier syndrome in the Italian population after the Bolzano
            variant: a report of two new families.
REFERENCE   2  (bases 1 to 959)
  AUTHORS   Dib F, Quemener A, Bayart S, Boisseau P, Babuty A, Trossaert M,
            Sigaud M, Ternisien C, Drillaud N, Eveillard M, Guillet B, Bene MC
            and Fouassier M.
  TITLE     Biological, clinical features and modelling of heterozygous variants
            of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein
            Ib platelet subunit beta (GP1BB) genes responsible for
            constitutional thrombocytopenia
  JOURNAL   Br J Haematol 199 (5), 744-753 (2022)
   PUBMED   36173017
  REMARK    GeneRIF: Biological, clinical features and modelling of heterozygous
            variants of glycoprotein Ib platelet subunit alpha (GP1BA) and
            glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for
            constitutional thrombocytopenia.
REFERENCE   3  (bases 1 to 959)
  AUTHORS   Dunstan-Harrison C, Morison IM and Ledgerwood EC.
  TITLE     A novel frameshift GP1BB mutation causes autosomal dominant
            macrothrombocytopenia with decreased vWF receptor expression but
            normal platelet aggregation
  JOURNAL   Platelets 33 (2), 324-327 (2022)
   PUBMED   33813986
  REMARK    GeneRIF: A novel frameshift GP1BB mutation causes autosomal dominant
            macrothrombocytopenia with decreased vWF receptor expression but
            normal platelet aggregation.
REFERENCE   4  (bases 1 to 959)
  AUTHORS   Barozzi S, Bozzi V, De Rocco D, Giangregorio T, Noris P, Savoia A
            and Pecci A.
  TITLE     A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain
            of GPIbbeta in the Pathophysiology of Bernard-Soulier Syndrome and
            GPIb-IX Complex Assembly
  JOURNAL   Int J Mol Sci 22 (19), 10190 (2021)
   PUBMED   34638529
  REMARK    GeneRIF: A Novel Mutation in GP1BB Reveals the Role of the
            Cytoplasmic Domain of GPIbbeta in the Pathophysiology of
            Bernard-Soulier Syndrome and GPIb-IX Complex Assembly. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 959)
  AUTHORS   Yagi M, Zieger B, Roth GJ and Ware J.
  TITLE     Structure and expression of the human septin gene HCDCREL-1
  JOURNAL   Gene 212 (2), 229-236 (1998)
   PUBMED   9611266
REFERENCE   6  (bases 1 to 959)
  AUTHORS   Zieger B, Hashimoto Y and Ware J.
  TITLE     Alternative expression of platelet glycoprotein Ib(beta) mRNA from
            an adjacent 5' gene with an imperfect polyadenylation signal
            sequence
  JOURNAL   J Clin Invest 99 (3), 520-525 (1997)
   PUBMED   9022087
REFERENCE   7  (bases 1 to 959)
  AUTHORS   Yagi M, Edelhoff S, Disteche CM and Roth GJ.
  TITLE     Structural characterization and chromosomal location of the gene
            encoding human platelet glycoprotein Ib beta
  JOURNAL   J Biol Chem 269 (26), 17424-17427 (1994)
   PUBMED   8021244
REFERENCE   8  (bases 1 to 959)
  AUTHORS   Modderman PW, Admiraal LG, Sonnenberg A and von dem Borne AE.
  TITLE     Glycoproteins V and Ib-IX form a noncovalent complex in the platelet
            membrane
  JOURNAL   J Biol Chem 267 (1), 364-369 (1992)
   PUBMED   1730602
REFERENCE   9  (bases 1 to 959)
  AUTHORS   Kroll MH, Harris TS, Moake JL, Handin RI and Schafer AI.
  TITLE     von Willebrand factor binding to platelet GpIb initiates signals for
            platelet activation
  JOURNAL   J Clin Invest 88 (5), 1568-1573 (1991)
   PUBMED   1939645
REFERENCE   10  (bases 1 to 959)
  AUTHORS   Wardell MR, Reynolds CC, Berndt MC, Wallace RW and Fox JE.
  TITLE     Platelet glycoprotein Ib beta is phosphorylated on serine 166 by
            cyclic AMP-dependent protein kinase
  JOURNAL   J Biol Chem 264 (26), 15656-15661 (1989)
   PUBMED   2504723
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: J03259.1, SRR14038192.1369847.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000366425.4/ ENSP00000383382.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC000093.5.
            On Aug 31, 2019 this sequence version replaced NM_000407.4.
            Summary: Platelet glycoprotein Ib (GPIb) is a heterodimeric
            transmembrane protein consisting of a disulfide-linked 140 kD alpha
            chain and 22 kD beta chain. It is part of the GPIb-V-IX system that
            constitutes the receptor for von Willebrand factor (VWF), and
            mediates platelet adhesion in the arterial circulation. GPIb alpha
            chain provides the VWF binding site, and GPIb beta contributes to
            surface expression of the receptor and participates in
            transmembrane signaling through phosphorylation of its
            intracellular domain. Mutations in the GPIb beta subunit have been
            associated with Bernard-Soulier syndrome, velocardiofacial syndrome
            and giant platelet disorder. The 206 amino acid precursor of GPIb
            beta is synthesized from a 1.0 kb mRNA expressed in plateletes and
            megakaryocytes. A 411 amino acid protein arising from a longer,
            unspliced transcript in endothelial cells has been described;
            however, the authenticity of this product has been questioned. Yet
            another less abundant GPIb beta mRNA species of 3.5 kb, expressed
            in nonhematopoietic tissues such as endothelium, brain and heart,
            was shown to result from inefficient usage of a non-consensus polyA
            signal in the neighboring upstream gene (SEPT5, septin 5). In the
            absence of polyadenylation from its own imperfect site, the SEPT5
            gene produces read-through transcripts that use the consensus polyA
            signal of this gene. [provided by RefSeq, Dec 2010].
            Sequence Note: This RefSeq record was created from genomic sequence
            data to make the sequence consistent with the reference genome
            assembly. The genomic coordinates used for the transcript record
            were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..959
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..959
                     /gene="GP1BB"
                     /gene_synonym="BDPLT1; BS; CD42C; GPIBB; GPIbbeta"
                     /note="glycoprotein Ib platelet subunit beta"
                     /db_xref="GeneID:2812"
                     /db_xref="HGNC:HGNC:4440"
                     /db_xref="MIM:138720"
     CDS             32..652
                     /gene="GP1BB"
                     /gene_synonym="BDPLT1; BS; CD42C; GPIBB; GPIbbeta"
                     /note="platelet glycoprotein Ib beta chain; glycoprotein Ib
                     platelet beta subunit; GP-Ib beta; antigen CD42b-beta;
                     nuclear localization signal deleted in velocardiofacial
                     syndrome; glycoprotein Ib (platelet), beta polypeptide;
                     platelet membrane glycoprotein Ib beta"
                     /codon_start=1
                     /product="platelet glycoprotein Ib beta chain precursor"
                     /protein_id="NP_000398.1"
                     /db_xref="CCDS:CCDS42980.1"
                     /db_xref="GeneID:2812"
                     /db_xref="HGNC:HGNC:4440"
                     /db_xref="MIM:138720"
                     /translation="MGSGPRGALSLLLLLLAPPSRPAAGCPAPCSCAGTLVDCGRRGLT
                     WASLPTAFPVDTTELVLTGNNLTALPPGLLDALPALRTAHLGANPWRCDCRLVPLRAWL
                     AGRPERAPYRDLRCVAPPALRGRLLPYLAEDELRAACAPGPLCWGALAAQLALLGLGLL
                     HALLLVLLLCRLRRLRARARARAAARLSLTDPLVAERAGTDES"
     sig_peptide     32..106
                     /gene="GP1BB"
                     /gene_synonym="BDPLT1; BS; CD42C; GPIBB; GPIbbeta"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     107..649
                     /gene="GP1BB"
                     /gene_synonym="BDPLT1; BS; CD42C; GPIBB; GPIbbeta"
                     /product="platelet glycoprotein Ib beta chain"
     regulatory      940..945
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GP1BB"
                     /gene_synonym="BDPLT1; BS; CD42C; GPIBB; GPIbbeta"
                     /note="hexamer: AATAAA"
     polyA_site      959
                     /gene="GP1BB"
                     /gene_synonym="BDPLT1; BS; CD42C; GPIBB; GPIbbeta"
                     /note="major polyA site"
ORIGIN
        1 gcagagtaag ccgggctgcc gtcttctcgc catgggctcc gggccgcgcg gggcgctgag
       61 cttactgctc ctgctgctgg ccccgccgag ccgcccggcc gcaggttgcc cggcgccctg
      121 tagctgcgcg gggacgctcg tggactgcgg gcgccgcggg ctgacttggg cctcgctgcc
      181 gaccgccttc cctgtcgaca caaccgagct ggtgctgacc ggcaacaacc tgacggcgct
      241 gccgccgggg ctgctggacg cgctgcccgc gctgcgcacc gcacacctgg gcgccaaccc
      301 ctggcgctgc gactgccgcc ttgtgccgct gcgcgcctgg ctggccggcc gccccgagcg
      361 tgcgccctac cgcgacctgc gttgcgtggc gcccccagcg ctgcgcggcc gcctgctgcc
      421 ctatctggcc gaggacgagc tgcgcgccgc ttgcgctccc ggcccgctct gctggggggc
      481 gctggcggcg cagcttgcgc tgctgggcct tgggctgctg cacgcgttgc tgctggtgct
      541 gctgctgtgc cgcctgcgga ggctgcgggc ccgggcccgc gctcgcgccg cagcccggct
      601 gtcgctgacc gacccgctgg tggccgagcg agccggaacc gacgagtcct gaggagagaa
      661 ccggtgcgtc ctgaggagag aaccggcgct gggcaacacg ggcctgcaaa ctcgacagga
      721 ccctgcccga ggggccctcg cgccaacctg gaccggtccc cgcctcctcc gctgcccaat
      781 ctctcagacc caccccacct gcaggcccag accacgtggg acagaactcc tgcccaccct
      841 accccgaggg aggcgaaccc gcacttccag gcttgggagg accatggggc acaatgcggt
      901 ccagaccctg ctgcgtctcc cttccaaact ctggtgctga ataaaccctt ctgatctgg
//
LOCUS       NM_000408               5812 bp    mRNA    linear   PRI 26-MAR-2023
DEFINITION  Homo sapiens glycerol-3-phosphate dehydrogenase 2 (GPD2), transcript
            variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000408
VERSION     NM_000408.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5812)
  AUTHORS   Mikeli M, Fujikawa M and Tanabe T.
  TITLE     GPD2: The relationship with cancer and neural stemness
  JOURNAL   Cells Dev 173, 203824 (2023)
   PUBMED   36592694
  REMARK    GeneRIF: GPD2: The relationship with cancer and neural stemness.
REFERENCE   2  (bases 1 to 5812)
  AUTHORS   Wu S, Mao C, Kondiparthi L, Poyurovsky MV, Olszewski K and Gan B.
  TITLE     A ferroptosis defense mechanism mediated by glycerol-3-phosphate
            dehydrogenase 2 in mitochondria
  JOURNAL   Proc Natl Acad Sci U S A 119 (26), e2121987119 (2022)
   PUBMED   35749365
  REMARK    GeneRIF: A ferroptosis defense mechanism mediated by
            glycerol-3-phosphate dehydrogenase 2 in mitochondria.
REFERENCE   3  (bases 1 to 5812)
  AUTHORS   Li X, Zhou L, Zhang Y, He X, Lu H, Zhang L, Tian Y, Liu X, Zheng H,
            Shao J and Long M.
  TITLE     mGPDH Deficiency leads to melanoma metastasis via induced NRF2
  JOURNAL   J Cell Mol Med 25 (11), 5305-5315 (2021)
   PUBMED   33939274
  REMARK    GeneRIF: mGPDH Deficiency leads to melanoma metastasis via induced
            NRF2.
REFERENCE   4  (bases 1 to 5812)
  AUTHORS   Qu H, Gong X, Liu X, Zhang R, Wang Y, Huang B, Zhang L, Zheng H and
            Zheng Y.
  TITLE     Deficiency of Mitochondrial Glycerol 3-Phosphate Dehydrogenase
            Exacerbates Podocyte Injury and the Progression of Diabetic Kidney
            Disease
  JOURNAL   Diabetes 70 (6), 1372-1387 (2021)
   PUBMED   33741719
  REMARK    GeneRIF: Deficiency of Mitochondrial Glycerol 3-Phosphate
            Dehydrogenase Exacerbates Podocyte Injury and the Progression of
            Diabetic Kidney Disease.
REFERENCE   5  (bases 1 to 5812)
  AUTHORS   Zheng Y, Qu H, Xiong X, Wang Y, Liu X, Zhang L, Liao X, Liao Q, Sun
            Z, Ouyang Q, Yang G, Zhu Z, Xu J and Zheng H.
  TITLE     Deficiency of Mitochondrial Glycerol 3-Phosphate Dehydrogenase
            Contributes to Hepatic Steatosis
  JOURNAL   Hepatology 70 (1), 84-97 (2019)
   PUBMED   30653687
  REMARK    GeneRIF: mRNA and protein levels reduced in livers of patients with
            nonalcoholic fatty liver disease
REFERENCE   6  (bases 1 to 5812)
  AUTHORS   Vertessy BG, Orosz F and Ovadi J.
  TITLE     Modulation of the interaction between aldolase and
            glycerol-phosphate dehydrogenase by fructose phosphates
  JOURNAL   Biochim Biophys Acta 1078 (2), 236-242 (1991)
   PUBMED   2065091
REFERENCE   7  (bases 1 to 5812)
  AUTHORS   Zolnierowicz,S., Swierczynski,J. and Zelewski,L.
  TITLE     Isolation and properties of glycerol-3-phosphate oxidoreductase from
            human placenta
  JOURNAL   Eur J Biochem 154 (1), 161-166 (1986)
   PUBMED   3943520
REFERENCE   8  (bases 1 to 5812)
  AUTHORS   Ovadi,J., Mohamed Osman,I.R. and Batke,J.
  TITLE     Interaction of the dissociable glycerol-3-phosphate dehydrogenase
            and fructose-1,6-bisphosphate aldolase. Quantitative analysis by an
            extrinsic fluorescence probe
  JOURNAL   Eur J Biochem 133 (2), 433-437 (1983)
   PUBMED   6406231
REFERENCE   9  (bases 1 to 5812)
  AUTHORS   MacDonald,M.J.
  TITLE     High content of mitochondrial glycerol-3-phosphate dehydrogenase in
            pancreatic islets and its inhibition by diazoxide
  JOURNAL   J Biol Chem 256 (16), 8287-8290 (1981)
   PUBMED   6790537
REFERENCE   10  (bases 1 to 5812)
  AUTHORS   Harding,J.W. Jr., Pyeritz,E.A., Copeland,E.S. and White,H.B. 3rd.
  TITLE     Role of glycerol 3-phosphate dehydrogenase in glyceride metabolism.
            Effect of diet on enzyme activities in chicken liver
  JOURNAL   Biochem J 146 (1), 223-229 (1975)
   PUBMED   167714
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.230556.1,
            SRR1660803.138469.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000438166.7/ ENSP00000409708.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092686.3 and AC011308.8.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000408.4.
            Summary: The protein encoded by this gene localizes to the inner
            mitochondrial membrane and catalyzes the conversion of
            glycerol-3-phosphate to dihydroxyacetone phosphate, using FAD as a
            cofactor. Along with GDP1, the encoded protein constitutes the
            glycerol phosphate shuttle, which reoxidizes NADH formed during
            glycolysis. Two transcript variants encoding the same protein have
            been found for this gene.[provided by RefSeq, Jan 2010].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5812
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.1"
     gene            1..5812
                     /gene="GPD2"
                     /gene_synonym="GDH2; GPDM; mGDH; mGPDH"
                     /note="glycerol-3-phosphate dehydrogenase 2"
                     /db_xref="GeneID:2820"
                     /db_xref="HGNC:HGNC:4456"
                     /db_xref="MIM:138430"
     misc_feature    138..140
                     /gene="GPD2"
                     /gene_synonym="GDH2; GPDM; mGDH; mGPDH"
                     /note="upstream in-frame stop codon"
     CDS             144..2327
                     /gene="GPD2"
                     /gene_synonym="GDH2; GPDM; mGDH; mGPDH"
                     /EC_number="1.1.5.3"
                     /note="glycerol-3-phosphate dehydrogenase, mitochondrial;
                     mitochondrial glycerophosphate dehydrogenase; GPD-M; mtGPD;
                     GPDH-M; glycerol-3-phosphate dehydrogenase 2
                     (mitochondrial); testicular tissue protein Li 76;
                     mitohondrial glycerophosphate dehydrogenase"
                     /codon_start=1
                     /product="glycerol-3-phosphate dehydrogenase, mitochondrial
                     precursor"
                     /protein_id="NP_000399.3"
                     /db_xref="CCDS:CCDS2202.1"
                     /db_xref="GeneID:2820"
                     /db_xref="HGNC:HGNC:4456"
                     /db_xref="MIM:138430"
                     /translation="MAFQKAVKGTILVGGGALATVLGLSQFAHYRRKQMNLAYVKAADC
                     ISEPVNREPPSREAQLLTLQNTSEFDILVIGGGATGSGCALDAVTRGLKTALVERDDFS
                     SGTSSRSTKLIHGGVRYLQKAIMKLDIEQYRMVKEALHERANLLEIAPHLSAPLPIMLP
                     VYKWWQLPYYWVGIKLYDLVAGSNCLKSSYVLSKSRALEHFPMLQKDKLVGAIVYYDGQ
                     HNDARMNLAIALTAARYGAATANYMEVVSLLKKTDPQTGKVRVSGARCKDVLTGQEFDV
                     RAKCVINATGPFTDSVRKMDDKDAAAICQPSAGVHIVMPGYYSPESMGLLDPATSDGRV
                     IFFLPWQKMTIAGTTDTPTDVTHHPIPSEEDINFILNEVRNYLSCDVEVRRGDVLAAWS
                     GIRPLVTDPKSADTQSISRNHVVDISESGLITIAGGKWTTYRSMAEDTINAAVKTHNLK
                     AGPSRTVGLFLQGGKDWSPTLYIRLVQDYGLESEVAQHLAATYGDKAFEVAKMASVTGK
                     RWPIVGVRLVSEFPYIEAEVKYGIKEYACTAVDMISRRTRLAFLNVQAAEEALPRIVEL
                     MGRELNWDDYKKQEQLETARKFLYYEMGYKSRSEQLTDRSEISLLPSDIDRYKKRFHKF
                     DADQKGFITIVDVQRVLESINVQMDENTLHEILNEVDLNKNGQVELNEFLQLMSAIQKG
                     RVSGSRLAILMKTAEENLDRRVPIPVDRSCGGL"
     sig_peptide     144..269
                     /gene="GPD2"
                     /gene_synonym="GDH2; GPDM; mGDH; mGPDH"
     mat_peptide     270..2324
                     /gene="GPD2"
                     /gene_synonym="GDH2; GPDM; mGDH; mGPDH"
                     /product="glycerol-3-phosphate dehydrogenase,
                     mitochondrial"
     misc_feature    1944..1946
                     /gene="GPD2"
                     /gene_synonym="GDH2; GPDM; mGDH; mGPDH"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q64521; propagated from
                     UniProtKB/Swiss-Prot (P43304.3); phosphorylation site"
     regulatory      5542..5547
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPD2"
                     /gene_synonym="GDH2; GPDM; mGDH; mGPDH"
                     /note="hexamer: AATAAA"
     polyA_site      5563
                     /gene="GPD2"
                     /gene_synonym="GDH2; GPDM; mGDH; mGPDH"
     regulatory      5788..5793
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPD2"
                     /gene_synonym="GDH2; GPDM; mGDH; mGPDH"
                     /note="hexamer: ATTACA"
     polyA_site      5812
                     /gene="GPD2"
                     /gene_synonym="GDH2; GPDM; mGDH; mGPDH"
                     /note="major polyA site"
ORIGIN
        1 gagtgacagc cccgcgcgcc tcgctgggag cacccgggcc gaggctctga ttctgggggg
       61 aggccgactc caccctggct ggaggaactg ggtgctcctg cccgctggcc cctcgcgcgt
      121 gaggatctat ctcaggctaa gaaatggcat ttcaaaaggc agtgaaaggg acgattcttg
      181 ttggaggagg tgctcttgca actgttttag gactttctca gtttgctcat tacagaagga
      241 aacaaatgaa cctggcctat gttaaagcag cagactgcat ttcagaacca gttaacaggg
      301 agcctccttc cagagaagct cagctactga ctttgcaaaa cacatctgaa tttgatatcc
      361 ttgttattgg aggaggagca acaggaagtg gctgtgcgct agatgctgtc accagaggac
      421 taaaaacagc ccttgtagaa agagatgatt tctcatcagg gaccagcagc agaagcacta
      481 aattgatcca tggtggtgtg agatatctgc agaaggccat catgaagttg gatattgagc
      541 agtataggat ggtaaaagaa gcccttcatg agcgtgccaa cctgctagaa attgctcccc
      601 atttatcagc tccattgcct ataatgcttc cagtttacaa gtggtggcag ttaccttact
      661 actgggtagg aatcaagctg tatgatttgg ttgcaggaag caattgccta aaaagcagtt
      721 atgtcctcag caaatcaaga gcccttgaac atttcccaat gctccagaag gacaaactgg
      781 taggagcaat tgtctactat gacggacaac ataacgatgc acggatgaac cttgccattg
      841 ctctgactgc tgccaggtat ggggctgcca cagccaatta catggaggta gtgagcttgc
      901 tcaagaagac agacccccag acagggaaag tgcgtgtgag cggcgcacgg tgcaaggatg
      961 tcctcacagg gcaggaattt gacgtgagag ccaaatgtgt tatcaatgcc acgggacctt
     1021 tcacggactc tgtgcgcaaa atggatgata aagacgcagc agctatctgc cagccaagtg
     1081 ctggtgtcca tattgtgatg cctggttatt acagcccaga gagcatggga cttcttgacc
     1141 cagcgaccag tgatgggcga gttattttct tcttaccctg gcaaaagatg acgatcgctg
     1201 gcactactga tactccaact gatgttacac accatccaat tccttcagaa gaagatatca
     1261 acttcatttt gaatgaagtg cgtaattacc tgagttgtga tgttgaagtg agaagagggg
     1321 atgtcctggc agcatggagt ggaatccgtc ctcttgttac agaccccaaa tctgcagata
     1381 ctcagtctat ctcccgaaat catgttgttg atatcagtga gagtggcctt attactatag
     1441 caggtggaaa gtggacaact tatcggtcta tggcagaaga taccataaat gctgctgtca
     1501 aaactcataa tttaaaagca ggaccaagta gaacagttgg gcttttcctt caagggggta
     1561 aagattggag ccccacactc tacattaggc ttgtgcagga ttatggactt gaaagcgagg
     1621 tggcacagca tcttgccgcc acctatggtg ataaggcctt tgaggtggcc aaaatggcaa
     1681 gtgtgactgg caaaaggtgg cctattgttg gagtacgtct tgtgtcagaa tttccatata
     1741 ttgaagcaga ggtgaaatat gggattaagg agtatgcctg cactgctgtg gatatgattt
     1801 cacgtcgtac tcgcctggcc tttctaaatg tccaggcagc agaggaagcc ctacccagga
     1861 ttgttgaact gatgggcagg gaactgaatt gggatgatta taagaagcag gaacaacttg
     1921 aaacagccag gaagtttcta tattatgaaa tgggctataa atctcgatca gaacagttaa
     1981 cagatcgctc tgaaattagc ctactgcctt cagacattga caggtataag aagagatttc
     2041 ataagtttga tgcagaccag aaaggcttta ttaccattgt tgatgttcag cgtgtattag
     2101 agagtatcaa tgtccaaatg gatgaaaata cactccatga aattctaaat gaagttgatt
     2161 tgaataaaaa tggacaggtt gaactcaatg aatttttgca gctgatgagt gctattcaaa
     2221 aaggaagggt atctggaagc cggcttgcta tactaatgaa aactgcagaa gagaacctcg
     2281 acagaagagt tccaattcca gtggaccgta gttgtggagg attgtgagtc tgggcagtaa
     2341 atccacagcc aacaaacata gaaacgacaa atcaccatgt aacaaccaga gatgactgaa
     2401 accactctga aataatgaat gtggatagct gcctttttta acactagaaa acattccaaa
     2461 actttaaggt gttggtgtat ttgccagctt tatttgctgt actttatttg tatttgccat
     2521 tcagtctagc ttttaagtat atttttttct ttttctcatt ttcaatgcac attagttttg
     2581 catctgtttt gtgacctgtt agatgtgaca cattctcttt ttgtttattc ccttattcta
     2641 aatgagttct aaaaacataa tattttggca aaaattgaaa aaagctggag acattttgtg
     2701 acatgcatac agatagcatg tgttattaaa aagagttgcc tattgaaatg atcatgtttc
     2761 tggagaaatt aagcttatag acagcatgtg ttattaaaaa gagttaccta ttgaaatgat
     2821 agtgtttctg gagatttctc agccccatct tcctccagct tgtctacctt cctcatgcaa
     2881 acaatattcc acatttttat atctagagca tgactggcta actggagagg gaaggaaaag
     2941 tttagatctg gttactggag caagtctcaa agagaaactc tgaaagcttc cagaatcaca
     3001 ggtataagat aaggatagca ttgacatttg ctgggagtta cagtgatagt ttcatctcag
     3061 cagttcattt ttttcttcag tcactgctgg ttttctttga ctattatagt tgccaggaag
     3121 atccttgctc ttcttacttt aaaaccagca tttaagtggc aatttggatg taataggatg
     3181 agaccaaatt tatctaatta ttacagtagt aatacattta agagttaaaa atgtgttttt
     3241 atatatccac atatgataac aaaagattca attcccaagc ctaaattttg aagcatgtgg
     3301 tattgtcaaa tctagcttac catctttttt gggggtactt gcaaccatag taaaggaaga
     3361 tggaatagac tttagttaac tttaattata attatatgtt aaataaggca cataaccagt
     3421 ttccaaggtc atcatggttg cttaaagtct ttccccttct gtactccatg gaaatattct
     3481 cagtaaacca aaaacaaaaa tggaaaaata atcaccaacc cccatcccga cacacacaca
     3541 gagtccaaag caaaagtcag tgtgtattga atttaacaag taatgcagtt tgggatgctt
     3601 ttgctacatt ttggtggcat tttaactagt tatctgaata tttattaatc gtacttcctc
     3661 ttgtaaagtt aactacttac ttttttgttg ttgttttttt aacatcaggt tctgtatcta
     3721 ataggagatg taacacttta tttcatggca ggtttttatt gcagagactt gaagtcttag
     3781 ttttttaaac tggcacataa aacacttttt gctgttattt ttatttatgt caatactgca
     3841 gagtatcttt atgccttatt caagtggatt ctgagcctgt atgtcacaat gtaaacactg
     3901 gaggttcact cacctacgca ctcacccacc acctctgaaa gaaacagaaa ctgcagagaa
     3961 agacagcatc ttagctcatt ttgtttttaa atgaggtttt agacgcttgc cacttcctaa
     4021 gggaaatcct aaaacagagc aagtgatgct cccaggtatc actgtgaact tttttctttc
     4081 aaagtgtgaa tttttacact ggctttttca tttttttaaa gtaattgaag cttgtggctt
     4141 tacaacttag tgttttttgc tatccagata acaagtttca ttgtttagaa cccagtgaca
     4201 cttaataggt agataaattg tcctttaaaa tatcccagat gatatacaca atatggtaca
     4261 tttgtgctct ctctctctgt ttttctctct ttctctttct agttagatca agataacgat
     4321 gacttgtacc ctccctgatt ctgttacagt agggcccggg cagatctgtg tttgttaaac
     4381 aggccttgtt tgtgcatgct ttgctatgaa tgaagttcct ttaaggacaa agaaaagcac
     4441 acttttcttc ttttgagcat atctgctttt actttaaatc tgctaatttc taaaatgtag
     4501 agtccttcac caatcccaga gactcaattt ggaaatgaac tgatttcaag ccgttactgt
     4561 gaataaagca ccccagcatt ttgtataagc tcttaattaa acctgtacag cttctttacc
     4621 tgatttaaga aagggagaca agcaataggg gggaataagc ttcttcaaaa ttcattccaa
     4681 gcacaaaaga aattttttcc ctttgcatat aaacttgaca tcagttgatt ctgttggggt
     4741 cggggtgggt atgcagggat tgccttttat tatcaagtga tttatttcaa gagcctttga
     4801 ggggattcag gtgaaggaac ccccatctgt gctggagagt tggatactcc tttaaatagc
     4861 ccccaccaca gtcataacaa taatgataat gctggattat ttgttaagcc aaggttgtct
     4921 gcctcatatc catcatgctg tttgcaatat tcttgctttc aatcaattta tactgagtgt
     4981 aactttagga tttctgctat taaatgcatg ctctctatcc tgcttcagtt tctggctttg
     5041 ctttgtctgt ttcaaaatat gtagcttcct cttttgtaca acaaaaaact cattctcact
     5101 tttactaaat atactgtagg agtcatcatt gatgttattt ttctcttatg tatctgtaaa
     5161 gatttttggc atatgaatgt aatattaaag tcaatgatgc tataacttgc gatgtttgca
     5221 tcatgtcaac ctttttgaag gagtgaaaaa gccctactat gtttttaaat agcaagtgta
     5281 agctcagtgc tagagtggat atacacaccg catgttttca tatgtggcac ttttatgtat
     5341 catgttgggt tattgttcta gactggactg ttaaatacta tgtttgaggc tgggttgtca
     5401 tttttataac tgtcttggtg ttttatggcc attatttatt acttttgata cacagaatga
     5461 gctgcatgca tttatagagc aataagagga tgtatttaat gtgccttgtt tttaactgaa
     5521 taagaactgg aagcatgaat caataaaact gattaaaatg gtctatttgc tagcattttg
     5581 atgttacttg cagtcagata actttgatta ctgttgaagt ttaaaaaaag tttgaaaata
     5641 tttttacaaa ctgtgttttt gatgacacaa aagtgaaata tctacagaga tagatgtaat
     5701 tttataagac tgccagaatt atttgtatta atttgttgct gtagccttta gggcatgact
     5761 tctgtatttg tgcaatccta ttctacaatt acattcatcc tattacaact ca
//
LOCUS       NM_000410               5176 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens homeostatic iron regulator (HFE), transcript variant 1,
            mRNA.
ACCESSION   NM_000410
VERSION     NM_000410.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5176)
  AUTHORS   Ivanova T, Churnosova M, Abramova M, Ponomarenko I, Reshetnikov E,
            Aristova I, Sorokina I and Churnosov M.
  TITLE     Risk Effects of rs1799945 Polymorphism of the HFE Gene and
            Intergenic Interactions of GWAS-Significant Loci for Arterial
            Hypertension in the Caucasian Population of Central Russia
  JOURNAL   Int J Mol Sci 24 (9), 8309 (2023)
   PUBMED   37176017
  REMARK    GeneRIF: Risk Effects of rs1799945 Polymorphism of the HFE Gene and
            Intergenic Interactions of GWAS-Significant Loci for Arterial
            Hypertension in the Caucasian Population of Central Russia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5176)
  AUTHORS   Hubacek JA, Philipp T, Adamkova V, Majek O and Dusek L.
  TITLE     A haemochromatosis-causing HFE mutation is associated with
            SARS-CoV-2 susceptibility in the Czech population
  JOURNAL   Clin Chim Acta 538, 211-215 (2023)
   PUBMED   36572138
  REMARK    GeneRIF: A haemochromatosis-causing HFE mutation is associated with
            SARS-CoV-2 susceptibility in the Czech population.
REFERENCE   3  (bases 1 to 5176)
  AUTHORS   Natarajan Y, Patel P, Chu J, Yu X, Hernaez R, El-Serag H and Kanwal
            F.
  TITLE     Risk of Hepatocellular Carcinoma in Patients with Various HFE
            Genotypes
  JOURNAL   Dig Dis Sci 68 (1), 312-322 (2023)
   PUBMED   35790703
  REMARK    GeneRIF: Risk of Hepatocellular Carcinoma in Patients with Various
            HFE Genotypes.
REFERENCE   4  (bases 1 to 5176)
  AUTHORS   Infanti L, Leitner G, Moe MK, Pehlic V, Benkert P, Cattaneo M,
            Holbro A, Passweg J, Worel N and Buser A.
  TITLE     Indices of iron homeostasis in asymptomatic subjects with HFE
            mutations and moderate ferritin elevation during iron removal
            treatment
  JOURNAL   Blood Cells Mol Dis 97, 102689 (2022)
   PUBMED   35780678
  REMARK    GeneRIF: Indices of iron homeostasis in asymptomatic subjects with
            HFE mutations and moderate ferritin elevation during iron removal
            treatment.
REFERENCE   5  (bases 1 to 5176)
  AUTHORS   Dissanayake R, Samarasinghe N, Waidyanatha S, Pathirana S,
            Neththikumara N, Dissanayake VHW, Wetthasinghe K, Gooneratne L and
            Wickramasinghe P.
  TITLE     Assessment of iron overload in a cohort of Sri Lankan patients with
            transfusion dependent beta thalassaemia and its correlation with
            pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes
  JOURNAL   BMC Pediatr 22 (1), 344 (2022)
   PUBMED   35705926
  REMARK    GeneRIF: Assessment of iron overload in a cohort of Sri Lankan
            patients with transfusion dependent beta thalassaemia and its
            correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2
            genes. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5176)
  AUTHORS   Barton,J.C. and Edwards,C.Q.
  TITLE     HFE Hemochromatosis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301613
REFERENCE   7  (bases 1 to 5176)
  AUTHORS   Geraghty DE, Koller BH, Pei J and Hansen JA.
  TITLE     Examination of four HLA class I pseudogenes. Common events in the
            evolution of HLA genes and pseudogenes
  JOURNAL   J Immunol 149 (6), 1947-1956 (1992)
   PUBMED   1517564
REFERENCE   8  (bases 1 to 5176)
  AUTHORS   Dugast IJ, Papadopoulos P, Zappone E, Jones C, Theriault K,
            Handelman GJ, Benarous R and Drysdale JW.
  TITLE     Identification of two human ferritin H genes on the short arm of
            chromosome 6
  JOURNAL   Genomics 6 (2), 204-211 (1990)
   PUBMED   2307464
REFERENCE   9  (bases 1 to 5176)
  AUTHORS   Walsh,C.H. and Malins,J.M.
  TITLE     Proliferative retinopathy in a patient with diabetes mellitus and
            idiopathic haemochromatosis
  JOURNAL   Br Med J 2 (6129), 16-17 (1978)
   PUBMED   678784
REFERENCE   10  (bases 1 to 5176)
  AUTHORS   Markert,R.
  TITLE     [Biochemical studies and biopsy examination in the evaluation of
            liver function in cholelithiasis]
  JOURNAL   Pol Tyg Lek 32 (27), 1041-1042 (1977)
   PUBMED   896549
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.360750.1,
            SRR1803611.128876.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000357618.10/ ENSP00000417404.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U91328.1.
            On Jun 2, 2020 this sequence version replaced NM_000410.3.
            Summary: The protein encoded by this gene is a membrane protein
            that is similar to MHC class I-type proteins and associates with
            beta2-microglobulin (beta2M). It is thought that this protein
            functions to regulate iron absorption by regulating the interaction
            of the transferrin receptor with transferrin. The iron storage
            disorder, hereditary haemochromatosis, is a recessive genetic
            disorder that results from defects in this gene. [provided by
            RefSeq, May 2022].
            Transcript Variant: This variant (1) encodes the longest isoform.
            CCDS Note: This CCDS ID represents the longest isoform encoded by
            the HFE gene. This isoform contains both a Class I
            Histocompatibility antigen (MHC_I) and an Immunoglobulin constant
            region (IGc) domain.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5176
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.2"
     gene            1..5176
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
                     /note="homeostatic iron regulator"
                     /db_xref="GeneID:3077"
                     /db_xref="HGNC:HGNC:4886"
                     /db_xref="MIM:613609"
     CDS             13..1059
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; high Fe; MHC class I-like protein HFE; hereditary
                     hemochromatosis protein HLA-H"
                     /codon_start=1
                     /product="hereditary hemochromatosis protein isoform 1
                     precursor"
                     /protein_id="NP_000401.1"
                     /db_xref="CCDS:CCDS4578.1"
                     /db_xref="GeneID:3077"
                     /db_xref="HGNC:HGNC:4886"
                     /db_xref="MIM:613609"
                     /translation="MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLS
                     LFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWT
                     IMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAW
                     PTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTT
                     LRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYT
                     CQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMG
                     HYVLAERE"
     sig_peptide     13..78
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     79..1056
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
                     /product="hereditary hemochromatosis protein isoform 1"
     misc_feature    79..354
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q30201.1);
                     Region: Alpha-1"
     misc_feature    340..342
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q30201.1); glycosylation site"
     misc_feature    355..627
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q30201.1);
                     Region: Alpha-2"
     misc_feature    400..402
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q30201.1); glycosylation site"
     misc_feature    628..903
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q30201.1);
                     Region: Alpha-3"
     misc_feature    712..714
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q30201.1); glycosylation site"
     misc_feature    904..930
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q30201.1);
                     Region: Connecting peptide"
     misc_feature    931..1002
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q30201.1);
                     transmembrane region"
     regulatory      3641..3646
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
                     /note="hexamer: AATAAA"
     polyA_site      3662
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
                     /note="major polyA site"
     regulatory      5153..5158
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
                     /note="hexamer: ATTAAA"
     polyA_site      5176
                     /gene="HFE"
                     /gene_synonym="HFE1; HH; HLA-H; MVCD7; TFQTL2"
ORIGIN
        1 agagctgggg aaatgggccc gcgagccagg ccggcgcttc tcctcctgat gcttttgcag
       61 accgcggtcc tgcaggggcg cttgctgcgt tcacactctc tgcactacct cttcatgggt
      121 gcctcagagc aggaccttgg tctttccttg tttgaagctt tgggctacgt ggatgaccag
      181 ctgttcgtgt tctatgatca tgagagtcgc cgtgtggagc cccgaactcc atgggtttcc
      241 agtagaattt caagccagat gtggctgcag ctgagtcaga gtctgaaagg gtgggatcac
      301 atgttcactg ttgacttctg gactattatg gaaaatcaca accacagcaa ggagtcccac
      361 accctgcagg tcatcctggg ctgtgaaatg caagaagaca acagtaccga gggctactgg
      421 aagtacgggt atgatgggca ggaccacctt gaattctgcc ctgacacact ggattggaga
      481 gcagcagaac ccagggcctg gcccaccaag ctggagtggg aaaggcacaa gattcgggcc
      541 aggcagaaca gggcctacct ggagagggac tgccctgcac agctgcagca gttgctggag
      601 ctggggagag gtgttttgga ccaacaagtg cctcctttgg tgaaggtgac acatcatgtg
      661 acctcttcag tgaccactct acggtgtcgg gccttgaact actaccccca gaacatcacc
      721 atgaagtggc tgaaggataa gcagccaatg gatgccaagg agttcgaacc taaagacgta
      781 ttgcccaatg gggatgggac ctaccagggc tggataacct tggctgtacc ccctggggaa
      841 gagcagagat atacgtgcca ggtggagcac ccaggcctgg atcagcccct cattgtgatc
      901 tgggagccct caccgtctgg caccctagtc attggagtca tcagtggaat tgctgttttt
      961 gtcgtcatct tgttcattgg aattttgttc ataatattaa ggaagaggca gggttcaaga
     1021 ggagccatgg ggcactacgt cttagctgaa cgtgagtgac acgcagcctg cagactcact
     1081 gtgggaagga gacaaaacta gagactcaaa gagggagtgc atttatgagc tcttcatgtt
     1141 tcaggagaga gttgaaccta aacatagaaa ttgcctgacg aactccttga ttttagcctt
     1201 ctctgttcat ttcctcaaaa agatttcccc atttaggttt ctgagttcct gcatgccggt
     1261 gatccctagc tgtgacctct cccctggaac tgtctctcat gaacctcaag ctgcatctag
     1321 aggcttcctt catttcctcc gtcacctcag agacatacac ctatgtcatt tcatttccta
     1381 tttttggaag aggactcctt aaatttgggg gacttacatg attcatttta acatctgaga
     1441 aaagctttga accctgggac gtggctagtc ataaccttac cagattttta cacatgtatc
     1501 tatgcatttt ctggacccgt tcaacttttc ctttgaatcc tctctctgtg ttacccagta
     1561 actcatctgt caccaagcct tggggattct tccatctgat tgtgatgtga gttgcacagc
     1621 tatgaaggct gtacactgca cgaatggaag aggcacctgt cccagaaaaa gcatcatggc
     1681 tatctgtggg tagtatgatg ggtgttttta gcaggtagga ggcaaatatc ttgaaagggg
     1741 ttgtgaagag gtgttttttc taattggcat gaaggtgtca tacagatttg caaagtttaa
     1801 tggtgccttc atttgggatg ctactctagt attccagacc tgaagaatca caataatttt
     1861 ctacctggtc tctccttgtt ctgataatga aaattatgat aaggatgata aaagcactta
     1921 cttcgtgtcc gactcttctg agcacctact tacatgcatt actgcatgca cttcttacaa
     1981 taattctatg agataggtac tattatcccc atttcttttt taaatgaaga aagtgaagta
     2041 ggccgggcac ggtggctcac gcctgtaatc ccagcacttt gggaggccaa agcgggtgga
     2101 tcacgaggtc aggagatcga gaccatcctg gctaacatgg tgaaacccca tctctaataa
     2161 aaatacaaaa aattagctgg gcgtggtggc agacgcctgt agtcccagct actcggaagg
     2221 ctgaggcagg agaatggcat gaacccagga ggcagagctt gcagtgagcc gagtttgcgc
     2281 cactgcactc cagcctaggt gacagagtga gactccatct caaaaaaata aaaataaaaa
     2341 taaaaaaatg aaaaaaaaaa gaaagtgaag tatagagtat ctcatagttt gtcagtgata
     2401 gaaacaggtt tcaaactcag tcaatctgac cgtttgatac atctcagaca ccactacatt
     2461 cagtagttta gatgcctaga ataaatagag aaggaaggag atggctcttc tcttgtctca
     2521 ttgtgtttct tctgagtgag cttgaatcac atgaagggga acagcagaaa acaaccaact
     2581 gatcctcagc tgtcatgttt cctttaaaag tccctgaagg aaggtcctgg aatgtgactc
     2641 ccttgctcct ctgttgctct ctttggcatt catttctttg gaccctacgc aaggactgta
     2701 attggtgggg acagctagtg gccctgctgg gcttcacaca cggtgtcctc cctaggccag
     2761 tgcctctgga gtcagaactc tggtggtatt tccctcaatg aagtggagta agctctctca
     2821 ttttgagatg gtataatgga agccaccaag tggcttagag gatgcccagg tccttccatg
     2881 gagccactgg ggttccggtg cacattaaaa aaaaaatcta accaggacat tcaggaattg
     2941 ctagattctg ggaaatcagt tcaccatgtt caaaagagtc tttttttttt ttttgagact
     3001 ctattgccca ggctggagtg caatggcatg atctcggctc actgtaacct ctgcctccca
     3061 ggttcaagcg attctcctgt ctcagcctcc caagtagctg ggattacagg cgtgcaccac
     3121 catgcccggc taatttttgt atttttagta gagacagggt ttcaccatgt tggccaggct
     3181 ggtctcgaac tctcctgacc tcgtgatccg cctgcctcgg cctcccaaag tgctgagatt
     3241 acaggtgtga gccaccctgc ccagccgtca aaagagtctt aatatatata tccagatggc
     3301 atgtgtttac tttatgttac tacatgcact tggctgcata aatgtggtac aagcattctg
     3361 tcttgaaggg caggtgcttc aggataccat atacagctca gaagtttctt ctttaggcat
     3421 taaattttag caaagatatc tcatctcttc ttttaaacca ttttcttttt ttgtggttag
     3481 aaaagttatg tagaaaaaag taaatgtgat ttacgctcat tgtagaaaag ctataaaatg
     3541 aatacaatta aagctgttat ttaattagcc agtgaaaaac tattaacaac ttgtctatta
     3601 cctgttagta ttattgttgc attaaaaatg catatacttt aataaatgta tattgtattg
     3661 tatactgcat gattttattg aagttcttgt tcatcttgtg tatatactta atcgctttgt
     3721 cattttggag acatttattt tgcttctaat ttctttacat tttgtcttac ggaatatttt
     3781 cattcaactg tggtagccga attaatcgtg tttcttcact ctagggacat tgtcgtctaa
     3841 gttgtaagac attggttatt ttaccagcaa accattctga aagcatatga caaattattt
     3901 ctctcttaat atcttactat actgaaagca gactgctata aggcttcact tactcttcta
     3961 cctcataagg aatatgttac aattaattta ttaggtaagc atttgtttta tattggtttt
     4021 atttcacctg ggctgagatt tcaagaaaca ccccagtctt cacagtaaca catttcacta
     4081 acacatttac taaacatcag caactgtggc ctgttaattt ttttaataga aattttaagt
     4141 cctcattttc tttcggtgtt ttttaagctt aatttttctg gctttattca taaattctta
     4201 aggtcaacta catttgaaaa atcaaagacc tgcattttaa attcttattc acctctggca
     4261 aaaccattca caaaccatgg tagtaaagag aagggtgaca cctggtggcc ataggtaaat
     4321 gtaccacggt ggtccggtga ccagagatgc agcgctgagg gttttcctga aggtaaagga
     4381 ataaagaatg ggtggagggg cgtgcactgg aaatcacttg tagagaaaag cccctgaaaa
     4441 tttgagaaaa caaacaagaa actacttacc agctatttga attgctggaa tcacaggcca
     4501 ttgctgagct gcctgaactg ggaacacaac agaaggaaaa caaaccactc tgataatcat
     4561 tgagtcaagt acagcaggtg attgaggact gctgagaggt acaggccaaa attcttatgt
     4621 tgtattataa taatgtcatc ttataatact gtcagtattt tataaaacat tcttcacaaa
     4681 ctcacacaca tttaaaaaca aaacactgtc tctaaaatcc ccaaattttt cataaactca
     4741 gttttaaact aacttttttt caaaccacaa tctgatttaa caatgactat catttaaata
     4801 tttctgactt tcaaattaaa gattttcaca tgcaggctga tatttgtaat tgtgattctc
     4861 tctgtaggct ttgggtataa tgtgttcttt tccttttttg catcagcgat taacttctac
     4921 actctaacat gtagaatgtt actacaatat taaagtattt tgtatgacaa ttttatttga
     4981 aagcctagga tgcgttgaca tcctgcatgc atttattact tgatatgcat gcattctggt
     5041 atctcaagca ttctatttct gagtaattgt ttaaggtgta gaagagatag atatggtgga
     5101 tttggagttg atacttatat attttctatt tcttggatgg atgaatttgt acattaaaag
     5161 ttttccatgg cagaaa
//
LOCUS       NM_000412               1947 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens histidine rich glycoprotein (HRG), mRNA.
ACCESSION   NM_000412
VERSION     NM_000412.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1947)
  AUTHORS   Tomonobu N, Kinoshita R, Wake H, Inoue Y, Ruma IMW, Suzawa K, Gohara
            Y, Komalasari NLGY, Jiang F, Murata H, Yamamoto KI, Sumardika IW,
            Chen Y, Futami J, Yamauchi A, Kuribayashi F, Kondo E, Toyooka S,
            Nishibori M and Sakaguchi M.
  TITLE     Histidine-Rich Glycoprotein Suppresses the S100A8/A9-Mediated
            Organotropic Metastasis of Melanoma Cells
  JOURNAL   Int J Mol Sci 23 (18), 10300 (2022)
   PUBMED   36142212
  REMARK    GeneRIF: Histidine-Rich Glycoprotein Suppresses the
            S100A8/A9-Mediated Organotropic Metastasis of Melanoma Cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1947)
  AUTHORS   Fouad MA, Abd Elrahman AH and El-Melouk MS.
  TITLE     Comparison of Histidine rich glycoprotein, a novel biomarker for
            sepsis, with traditional biomarkers in adult ICU patients
  JOURNAL   Egypt J Immunol 29 (2), 41-47 (2022)
   PUBMED   35436053
  REMARK    GeneRIF: Comparison of Histidine rich glycoprotein, a novel
            biomarker for sepsis, with traditional biomarkers in adult ICU
            patients.
REFERENCE   3  (bases 1 to 1947)
  AUTHORS   Bakay K, Coban U, Arslan MA, Guven D and Tural S.
  TITLE     Effects of HRG and TP73 gene variations on ovarian response
  JOURNAL   Gynecol Endocrinol 38 (3), 243-247 (2022)
   PUBMED   34494506
  REMARK    GeneRIF: Effects of HRG and TP73 gene variations on ovarian
            response.
REFERENCE   4  (bases 1 to 1947)
  AUTHORS   Kuroda K, Ishii K, Mihara Y, Kawanoue N, Wake H, Mori S, Yoshida M,
            Nishibori M and Morimatsu H.
  TITLE     Histidine-rich glycoprotein as a prognostic biomarker for sepsis
  JOURNAL   Sci Rep 11 (1), 10223 (2021)
   PUBMED   33986340
  REMARK    GeneRIF: Histidine-rich glycoprotein as a prognostic biomarker for
            sepsis. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1947)
  AUTHORS   Rydengard V, Shannon O, Lundqvist K, Kacprzyk L, Chalupka A, Olsson
            AK, Morgelin M, Jahnen-Dechent W, Malmsten M and Schmidtchen A.
  TITLE     Histidine-rich glycoprotein protects from systemic Candida infection
  JOURNAL   PLoS Pathog 4 (8), e1000116 (2008)
   PUBMED   18797515
  REMARK    GeneRIF: The protein encoded by this gene has a peptide that
            displays antimicrobial activity against C. albicans, E. coli, S.
            aureus, P. aeruginosa, and E. faecalis. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 1947)
  AUTHORS   Rydengard V, Olsson AK, Morgelin M and Schmidtchen A.
  TITLE     Histidine-rich glycoprotein exerts antibacterial activity
  JOURNAL   FEBS J 274 (2), 377-389 (2007)
   PUBMED   17229145
  REMARK    GeneRIF: the histidine-rich and heparin-binding domain of HRGP
            mediates the antibacterial activity of the protein
REFERENCE   7  (bases 1 to 1947)
  AUTHORS   Hughes GJ, Frutiger S, Paquet N, Ravier F, Pasquali C, Sanchez JC,
            James R, Tissot JD, Bjellqvist B and Hochstrasser DF.
  TITLE     Plasma protein map: an update by microsequencing
  JOURNAL   Electrophoresis 13 (9-10), 707-714 (1992)
   PUBMED   1459097
REFERENCE   8  (bases 1 to 1947)
  AUTHORS   Hutchens TW, Yip TT and Morgan WT.
  TITLE     Identification of histidine-rich glycoprotein in human colostrum and
            milk
  JOURNAL   Pediatr Res 31 (3), 239-246 (1992)
   PUBMED   1561009
REFERENCE   9  (bases 1 to 1947)
  AUTHORS   Hennis BC and Kluft C.
  TITLE     KpnI RFLP in the human histidine-rich glycoprotein gene
  JOURNAL   Nucleic Acids Res 19 (15), 4311 (1991)
   PUBMED   1678514
REFERENCE   10  (bases 1 to 1947)
  AUTHORS   Morgan,W.T.
  TITLE     Human serum histidine-rich glycoprotein. I. Interactions with heme,
            metal ions and organic ligands
  JOURNAL   Biochim Biophys Acta 535 (2), 319-333 (1978)
   PUBMED   678554
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M13149.1, BC150591.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2145122 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000232003.5/ ENSP00000232003.4
            Protein has antimicrobial activity :: PMID: 17229145, 18797515
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC150591.1 and AI800281.1.
            On Aug 31, 2019 this sequence version replaced NM_000412.4.
            Summary: This histidine-rich glycoprotein contains two
            cystatin-like domains and is located in plasma and platelets. The
            physiological function has not been determined but it is known that
            the protein binds heme, dyes and divalent metal ions. The encoded
            protein also has a peptide that displays antimicrobial activity
            against C. albicans, E. coli, S. aureus, P. aeruginosa, and E.
            faecalis. It can inhibit rosette formation and interacts with
            heparin, thrombospondin and plasminogen. Two of the protein's
            effects, the inhibition of fibrinolysis and the reduction of
            inhibition of coagulation, indicate a potential prothrombotic
            effect. Mutations in this gene lead to thrombophilia due to
            abnormal histidine-rich glycoprotein levels. [provided by RefSeq,
            Nov 2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1947
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.3"
     gene            1..1947
                     /gene="HRG"
                     /gene_synonym="HPRG; HRGP; THPH11"
                     /note="histidine rich glycoprotein"
                     /db_xref="GeneID:3273"
                     /db_xref="HGNC:HGNC:5181"
                     /db_xref="MIM:142640"
     CDS             19..1596
                     /gene="HRG"
                     /gene_synonym="HPRG; HRGP; THPH11"
                     /note="histidine-proline-rich glycoprotein"
                     /codon_start=1
                     /product="histidine-rich glycoprotein precursor"
                     /protein_id="NP_000403.1"
                     /db_xref="CCDS:CCDS3280.1"
                     /db_xref="GeneID:3273"
                     /db_xref="HGNC:HGNC:5181"
                     /db_xref="MIM:142640"
                     /translation="MKALIAALLLITLQYSCAVSPTDCSAVEPEAEKALDLINKRRRDG
                     YLFQLLRIADAHLDRVENTTVYYLVLDVQESDCSVLSRKYWNDCEPPDSRRPSEIVIGQ
                     CKVIATRHSHESQDLRVIDFNCTTSSVSSALANTKDSPVLIDFFEDTERYRKQANKALE
                     KYKEENDDFASFRVDRIERVARVRGGEGTGYFVDFSVRNCPRHHFPRHPNVFGFCRADL
                     FYDVEALDLESPKNLVINCEVFDPQEHENINGVPPHLGHPFHWGGHERSSTTKPPFKPH
                     GSRDHHHPHKPHEHGPPPPPDERDHSHGPPLPQGPPPLLPMSCSSCQHATFGTNGAQRH
                     SHNNNSSDLHPHKHHSHEQHPHGHHPHAHHPHEHDTHRQHPHGHHPHGHHPHGHHPHGH
                     HPHGHHPHCHDFQDYGPCDPPPHNQGHCCHGHGPPPGHLRRRGPGKGPRPFHCRQIGSV
                     YRLPPLRKGEVLPLPEANFPSFPLPHHKHPLKPDNQPFPQSVSESCPGKFKSGFPQVSM
                     FFTHTFPK"
     sig_peptide     19..72
                     /gene="HRG"
                     /gene_synonym="HPRG; HRGP; THPH11"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     73..1593
                     /gene="HRG"
                     /gene_synonym="HPRG; HRGP; THPH11"
                     /product="Histidine-rich glycoprotein. /id=PRO_0000006709"
                     /note="propagated from UniProtKB/Swiss-Prot (P04196.1)"
     misc_feature    139..270
                     /gene="HRG"
                     /gene_synonym="HPRG; HRGP; THPH11"
                     /note="propagated from UniProtKB/Swiss-Prot (P04196.1);
                     Region: Interaction with ATP5F1A.
                     /evidence=ECO:0000269|PubMed:19285951"
     misc_feature    205..207
                     /gene="HRG"
                     /gene_synonym="HPRG; HRGP; THPH11"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19285951; propagated from
                     UniProtKB/Swiss-Prot (P04196.1); glycosylation site"
     misc_feature    391..393
                     /gene="HRG"
                     /gene_synonym="HPRG; HRGP; THPH11"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04196.1); glycosylation site"
     misc_feature    772..1239
                     /gene="HRG"
                     /gene_synonym="HPRG; HRGP; THPH11"
                     /note="propagated from UniProtKB/Swiss-Prot (P04196.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1048..1050
                     /gene="HRG"
                     /gene_synonym="HPRG; HRGP; THPH11"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P04196.1); glycosylation site"
     misc_feature    1051..1053
                     /gene="HRG"
                     /gene_synonym="HPRG; HRGP; THPH11"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P04196.1); glycosylation site"
     misc_feature    1060..1164
                     /gene="HRG"
                     /gene_synonym="HPRG; HRGP; THPH11"
                     /note="propagated from UniProtKB/Swiss-Prot (P04196.1);
                     Region: Necessary for endothelial cell focal adhesions and
                     anti-angiogenic activities"
     misc_feature    1333..1338
                     /gene="HRG"
                     /gene_synonym="HPRG; HRGP; THPH11"
                     /note="Cleavage, by plasmin. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P04196.1); cleavage
                     site"
     regulatory      1925..1930
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HRG"
                     /gene_synonym="HPRG; HRGP; THPH11"
                     /note="hexamer: AATAAA"
     polyA_site      1947
                     /gene="HRG"
                     /gene_synonym="HPRG; HRGP; THPH11"
                     /note="major polyA site"
ORIGIN
        1 aagggatggt ttaacaaaat gaaggcactc attgcagcac tgcttttgat cacattgcag
       61 tattcgtgtg ccgtgagtcc cactgactgc agtgctgttg agccggaggc tgagaaagct
      121 ctagacctga tcaataaaag gcgacgggat ggctaccttt tccaattgct gcggattgct
      181 gatgcccact tggacagagt ggaaaataca actgtatatt acttagtctt agatgtgcaa
      241 gaatcggact gttcggtcct atccaggaaa tactggaatg actgtgagcc acctgattcc
      301 agacgtccat ctgaaatagt gatcggacaa tgtaaggtaa tagctacaag acattcccat
      361 gaatctcagg acctcagagt gattgacttt aactgcacca caagttctgt ctcttcagca
      421 ctggccaata ccaaagatag tccggtcctc atagatttct ttgaggatac tgagcgctac
      481 agaaaacaag ccaacaaagc ccttgagaag tacaaagagg agaatgatga ctttgcctct
      541 ttcagagtgg accgaatcga gagagttgca agagtgagag gaggggaagg aactggttac
      601 ttcgtggact tctctgtgcg gaactgcccc agacaccatt tccccagaca ccccaatgtc
      661 tttggattct gcagagcaga tttgttctat gatgtagaag ccttggactt ggaaagcccg
      721 aaaaaccttg tcataaactg tgaagtcttc gaccctcagg aacatgagaa catcaatggt
      781 gtaccgcctc atttgggaca tcccttccac tggggtgggc atgagcgttc ttctaccacc
      841 aagcctccat tcaagcccca tggatctaga gatcatcatc atccccacaa gccacacgaa
      901 catggacccc cacctcctcc agatgaaaga gatcactcac atggaccccc acttccacaa
      961 ggccctcctc cactattgcc catgtcctgc tcaagttgtc aacatgccac ttttggcaca
     1021 aatggggccc aaagacattc tcataataat aattccagtg acctccatcc ccataagcat
     1081 cattcccatg aacagcatcc ccacggacac catccccatg cacaccatcc tcatgaacat
     1141 gatacccata gacagcatcc ccatggacac cacccccatg gacaccatcc tcatggacac
     1201 cacccccatg gacaccatcc ccatggacac catccccact gccatgattt ccaagactat
     1261 ggaccttgtg acccaccacc ccataaccaa ggtcactgtt gccatggcca cggcccacca
     1321 cctgggcact taagaaggcg aggcccaggt aaaggacccc gtcccttcca ttgcagacaa
     1381 attggatctg tgtaccgact ccctcctcta agaaaaggtg aggtgctgcc acttcctgag
     1441 gccaattttc ccagcttccc attgccgcac cacaaacatc ctctaaagcc agacaatcag
     1501 ccctttcctc aatcagtctc tgaatcatgt ccagggaagt tcaagagtgg gtttccacaa
     1561 gtttccatgt tttttacaca tacatttcca aaataaaatg tgattccttt gaagaggaaa
     1621 atgaataata cattgaatta gaaacataaa taaaatgacc agtaattgtg aaaattacag
     1681 ttcttttcaa cctactttca tactgaagat gcagcaaaat gtgaatggga aaagagatgg
     1741 cctgagaaga gagatcaaat ggaaaggaga ggaaagaact cagtgctgcc tattagtagt
     1801 taattctgtc actcaccact acatcacttg agacaaatct atgccactca gaatctcctt
     1861 ctttcctgga cttaactcta attctagagt ctctgttact gcttgggcta tacctgggca
     1921 tactaataaa gtatggtatt gaaacta
//
LOCUS       NM_000413               1274 bp    mRNA    linear   PRI 22-MAR-2023
DEFINITION  Homo sapiens hydroxysteroid 17-beta dehydrogenase 1 (HSD17B1),
            transcript variant 1, mRNA.
ACCESSION   NM_000413
VERSION     NM_000413.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1274)
  AUTHORS   Li T, Song X, Stephen P, Yin H and Lin SX.
  TITLE     New insights into the substrate inhibition of human
            17beta-hydroxysteroid dehydrogenase type 1
  JOURNAL   J Steroid Biochem Mol Biol 228, 106246 (2023)
   PUBMED   36634828
  REMARK    GeneRIF: New insights into the substrate inhibition of human
            17beta-hydroxysteroid dehydrogenase type 1.
REFERENCE   2  (bases 1 to 1274)
  AUTHORS   Heinosalo T, Rytkonen KT, Saarinen N, Jarvensivu P, Damdimopoulou P,
            Strauss L, Orasniemi S, Horshauge P, Gabriel M, Koskimies P, Ohlsson
            C, Kronqvist P and Poutanen M.
  TITLE     Overexpression of Human Estrogen Biosynthetic Enzyme Hydroxysteroid
            (17beta) Dehydrogenase Type 1 Induces Adenomyosis-like Phenotype in
            Transgenic Mice
  JOURNAL   Int J Mol Sci 23 (9), 4815 (2022)
   PUBMED   35563206
  REMARK    GeneRIF: Overexpression of Human Estrogen Biosynthetic Enzyme
            Hydroxysteroid (17beta) Dehydrogenase Type 1 Induces
            Adenomyosis-like Phenotype in Transgenic Mice. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1274)
  AUTHORS   Suminska M, Podgorski R, Fichna P and Fichna M.
  TITLE     Steroid Metabolism in Children and Adolescents With Obesity and
            Insulin Resistance: Altered SRD5A and 20alpha/20betaHSD Activity
  JOURNAL   Front Endocrinol (Lausanne) 12, 759971 (2021)
   PUBMED   34764940
  REMARK    GeneRIF: Steroid Metabolism in Children and Adolescents With Obesity
            and Insulin Resistance: Altered SRD5A and 20alpha/20betaHSD
            Activity. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1274)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1274)
  AUTHORS   He W, Gauri M, Li T, Wang R and Lin SX.
  TITLE     Current knowledge of the multifunctional 17beta-hydroxysteroid
            dehydrogenase type 1 (HSD17B1)
  JOURNAL   Gene 588 (1), 54-61 (2016)
   PUBMED   27102893
  REMARK    GeneRIF: The structure of human 17beta-HSD1 and biological function
            have been studied extensively in the last two decades. In humans,
            the enzyme is expressed in placenta, ovary, endometrium and breast;
            high activity of estrogen activation provides the basis of
            17beta-HSD1's implication in estrogen-dependent diseases, such as
            breast cancer, endometriosis and non-small cell lung carcinomas.
            [Review] Review article
REFERENCE   6  (bases 1 to 1274)
  AUTHORS   Peltoketo H, Isomaa V and Vihko R.
  TITLE     Genomic organization and DNA sequences of human 17
            beta-hydroxysteroid dehydrogenase genes and flanking regions.
            Localization of multiple Alu sequences and putative cis-acting
            elements
  JOURNAL   Eur J Biochem 209 (1), 459-466 (1992)
   PUBMED   1327779
REFERENCE   7  (bases 1 to 1274)
  AUTHORS   Winqvist R, Peltoketo H, Isomaa V, Grzeschik KH, Mannermaa A and
            Vihko R.
  TITLE     The gene for 17 beta-hydroxysteroid dehydrogenase maps to human
            chromosome 17, bands q12-q21, and shows an RFLP with ScaI
  JOURNAL   Hum Genet 85 (5), 473-476 (1990)
   PUBMED   1977681
REFERENCE   8  (bases 1 to 1274)
  AUTHORS   Luu-The V, Labrie C, Simard J, Lachance Y, Zhao HF, Couet J, Leblanc
            G and Labrie F.
  TITLE     Structure of two in tandem human 17 beta-hydroxysteroid
            dehydrogenase genes
  JOURNAL   Mol Endocrinol 4 (2), 268-275 (1990)
   PUBMED   2330005
REFERENCE   9  (bases 1 to 1274)
  AUTHORS   Luu-The V, Labrie C, Zhao HF, Couet J, Lachance Y, Simard J, Cote J,
            Leblanc G, Lagace L, Berube D et al.
  TITLE     Purification, cloning, complementary DNA structure, and predicted
            amino acid sequence of human estradiol 17 beta-dehydrogenase
  JOURNAL   Ann N Y Acad Sci 595, 40-52 (1990)
   PUBMED   2197970
REFERENCE   10  (bases 1 to 1274)
  AUTHORS   Baker ME.
  TITLE     Human placental 17 beta-hydroxysteroid dehydrogenase is homologous
            to NodG protein of Rhizobium meliloti
  JOURNAL   Mol Endocrinol 3 (5), 881-884 (1989)
   PUBMED   2547159
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK127832.1, X13440.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2142853 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000585807.6/ ENSP00000466799.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC067852.23, X13440.1 and
            CF529535.1.
            On Jun 2, 2019 this sequence version replaced NM_000413.3.
            Summary: This gene encodes a member of the 17beta-hydroxysteroid
            dehydrogenase family of short-chain dehydrogenases/reductases. It
            has a dual function in estrogen activation and androgen
            inactivation and plays a major role in establishing the estrogen E2
            concentration gradient between serum and peripheral tissues. The
            encoded protein catalyzes the last step in estrogen activation,
            using NADPH to convert estrogens E1 and E2 and androgens like
            4-androstenedione, to testosterone. It has an N-terminal
            short-chain dehydrogenase domain with a cofactor binding site, and
            a narrow, hydrophobic C-terminal domain with a steroid substrate
            binding site. This gene is expressed primarily in the placenta and
            ovarian granulosa cells, and to a lesser extent, in the
            endometrium, adipose tissue, and prostate. Polymorphisms in this
            gene have been linked to breast and prostate cancer. A pseudogene
            of this gene has been identified. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Sep 2016].
            Transcript Variant: This variant (1) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 2. It
            encodes isoform 1, which is shorter than isoform 2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1274
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..1274
                     /gene="HSD17B1"
                     /gene_synonym="17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2;
                     EDHB17; HSD17; SDR28C1"
                     /note="hydroxysteroid 17-beta dehydrogenase 1"
                     /db_xref="GeneID:3292"
                     /db_xref="HGNC:HGNC:5210"
                     /db_xref="MIM:109684"
     CDS             12..998
                     /gene="HSD17B1"
                     /gene_synonym="17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2;
                     EDHB17; HSD17; SDR28C1"
                     /EC_number="1.1.1.62"
                     /EC_number="1.1.1.51"
                     /note="isoform 1 is encoded by transcript variant 1; short
                     chain dehydrogenase/reductase family 28CE, member 1;
                     estradiol 17-beta-dehydrogenase 1; short chain
                     dehydrogenase/reductase family 28C member 1; 20
                     alpha-hydroxysteroid dehydrogenase; 17-beta-hydroxysteroid
                     dehydrogenase type 1; placental 17-beta-hydroxysteroid
                     dehydrogenase; 17-beta-HSD 1"
                     /codon_start=1
                     /product="17-beta-hydroxysteroid dehydrogenase type 1
                     isoform 1"
                     /protein_id="NP_000404.2"
                     /db_xref="CCDS:CCDS11428.1"
                     /db_xref="GeneID:3292"
                     /db_xref="HGNC:HGNC:5210"
                     /db_xref="MIM:109684"
                     /translation="MARTVVLITGCSSGIGLHLAVRLASDPSQSFKVYATLRDLKTQGR
                     LWEAARALACPPGSLETLQLDVRDSKSVAAARERVTEGRVDVLVCNAGLGLLGPLEALG
                     EDAVASVLDVNVVGTVRMLQAFLPDMKRRGSGRVLVTGSVGGLMGLPFNDVYCASKFAL
                     EGLCESLAVLLLPFGVHLSLIECGPVHTAFMEKVLGSPEEVLDRTDIHTFHRFYQYLAH
                     SKQVFREAAQNPEEVAEVFLTALRAPKPTLRYFTTERFLPLLRMRLDDPSGSNYVTAMH
                     REVFGDVPAKAEAGAEAGGGAGPGAEDEAGRGAVGDPELGDPPAAPQ"
     misc_feature    414..416
                     /gene="HSD17B1"
                     /gene_synonym="17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2;
                     EDHB17; HSD17; SDR28C1"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:8994190; propagated from
                     UniProtKB/Swiss-Prot (P14061.3); phosphorylation site"
     misc_feature    882..995
                     /gene="HSD17B1"
                     /gene_synonym="17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2;
                     EDHB17; HSD17; SDR28C1"
                     /note="propagated from UniProtKB/Swiss-Prot (P14061.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1253..1258
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD17B1"
                     /gene_synonym="17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2;
                     EDHB17; HSD17; SDR28C1"
                     /note="hexamer: AATAAA"
     polyA_site      1274
                     /gene="HSD17B1"
                     /gene_synonym="17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2;
                     EDHB17; HSD17; SDR28C1"
                     /note="major polyA site"
ORIGIN
        1 acagtctcac catggcccgc accgtggtgc tcatcaccgg ctgttcctcg ggcatcggcc
       61 tgcacttggc cgtacgtctg gcttcagatc catcccagag cttcaaagtg tatgccacgt
      121 tgagggacct gaaaacacag ggccggctgt gggaggcggc ccgggccctg gcatgccctc
      181 cgggatccct ggagacgttg cagctggacg taagggactc aaaatccgtg gccgctgccc
      241 gggaacgcgt gactgagggc cgcgtggacg tgctggtgtg taacgcaggc ctgggcctgc
      301 tggggccgct ggaggcgctg ggggaggacg ccgtggcctc tgtgctggac gtgaatgtag
      361 tagggactgt gcggatgctg caggccttcc tgccagacat gaagaggcgc ggttcgggac
      421 gcgtgttggt gaccgggagc gtgggaggat tgatggggct gcctttcaat gacgtttatt
      481 gcgccagcaa gttcgcgctc gaaggcttat gcgagagtct ggcggttctg ctgctgccct
      541 ttggggtcca cttgagcctg atcgagtgcg gcccagtgca caccgccttc atggagaagg
      601 tgttgggcag cccagaggag gtgctggacc gcacggacat ccacaccttc caccgcttct
      661 accaatacct cgcccacagc aagcaagtct ttcgcgaggc ggcgcagaac cctgaggagg
      721 tggcggaggt cttcctcacc gctttgcgcg ccccgaagcc gaccctgcgc tacttcacca
      781 ccgagcgctt cctgcccctg ctgcggatgc gcctggacga ccccagcggc tccaactacg
      841 tcaccgccat gcaccgggaa gtgttcggcg acgttccggc aaaggccgag gctggggccg
      901 aggctggggg cggggccggg cctggggcag aggacgaggc cgggcgcggt gcggtggggg
      961 accctgagct cggcgatcct ccggccgccc cgcagtaaag gcttcctcag ccgctgtctc
     1021 ccgcgccctt ctttgtcccc tgggtctgtg tggtccctgg ggatggggcg gcggtagcag
     1081 ctgtgggtgg ctaattaaga tagatcgcgt tagccagttt taccagcgca gctaggcgcg
     1141 atggctgtcg cctgtaatgc cagcgctttg ggaggcggag gcaggaggat cgctcaagcc
     1201 ccggagttgg agaccagcca gagcaacaca gtgagacccc catctctaca aaaataaaga
     1261 aaatttaaaa atca
//
LOCUS       NM_000414               2628 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4),
            transcript variant 2, mRNA.
ACCESSION   NM_000414
VERSION     NM_000414.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2628)
  AUTHORS   Arai N, Hattori N, Yamashita S, Liu YY, Ebata T, Takeuchi C,
            Takeshima H, Fujii S, Kondo H, Mukai H and Ushijima T.
  TITLE     HSD17B4 methylation enhances glucose dependence of BT-474 breast
            cancer cells and increases lapatinib sensitivity
  JOURNAL   Breast Cancer Res Treat 201 (2), 317-328 (2023)
   PUBMED   37378696
  REMARK    GeneRIF: HSD17B4 methylation enhances glucose dependence of BT-474
            breast cancer cells and increases lapatinib sensitivity.
REFERENCE   2  (bases 1 to 2628)
  AUTHORS   Lee SA, Lee J, Kim K, Moon H, Min C, Moon B, Kim D, Yang S, Park H,
            Lee G, Park R and Park D.
  TITLE     The Peroxisomal Localization of Hsd17b4 Is Regulated by Its
            Interaction with Phosphatidylserine
  JOURNAL   Mol Cells 44 (4), 214-222 (2021)
   PUBMED   33935042
  REMARK    GeneRIF: The Peroxisomal Localization of Hsd17b4 Is Regulated by Its
            Interaction with Phosphatidylserine.
REFERENCE   3  (bases 1 to 2628)
  AUTHORS   Savage L, Adams SD, James K, Chowdhury S, Rajasekaran S, Prokop JW
            and Bupp C.
  TITLE     Rapid whole-genome sequencing identifies a homozygous novel variant,
            His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency
            disorder diagnosis
  JOURNAL   Cold Spring Harb Mol Case Stud 6 (6), a005496 (2020)
   PUBMED   33115767
  REMARK    GeneRIF: Rapid whole-genome sequencing identifies a homozygous novel
            variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein
            deficiency disorder diagnosis. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2628)
  AUTHORS   Huang H, Liu R, Huang Y, Feng Y, Fu Y, Chen L, Chen Z, Cai Y, Zhang
            Y and Chen Y.
  TITLE     Acetylation-mediated degradation of HSD17B4 regulates the
            progression of prostate cancer
  JOURNAL   Aging (Albany NY) 12 (14), 14699-14717 (2020)
   PUBMED   32678070
  REMARK    GeneRIF: Acetylation-mediated degradation of HSD17B4 regulates the
            progression of prostate cancer.
REFERENCE   5  (bases 1 to 2628)
  AUTHORS   Adamski J, Normand T, Leenders F, Monte D, Begue A, Stehelin D,
            Jungblut PW and de Launoit Y.
  TITLE     Molecular cloning of a novel widely expressed human 80 kDa 17
            beta-hydroxysteroid dehydrogenase IV
  JOURNAL   Biochem J 311 (Pt 2) (Pt 2), 437-443 (1995)
   PUBMED   7487879
REFERENCE   6  (bases 1 to 2628)
  AUTHORS   Suzuki Y, Shimozawa N, Yajima S, Tomatsu S, Kondo N, Nakada Y,
            Akaboshi S, Lai M, Tanabe Y, Hashimoto T et al.
  TITLE     Novel subtype of peroxisomal acyl-CoA oxidase deficiency and
            bifunctional enzyme deficiency with detectable enzyme protein:
            identification by means of complementation analysis
  JOURNAL   Am J Hum Genet 54 (1), 36-43 (1994)
   PUBMED   8279468
REFERENCE   7  (bases 1 to 2628)
  AUTHORS   Newman,W.G., Friedman,T.B., Conway,G.S. and Demain,L.A.M.
  TITLE     Perrault Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   25254289
REFERENCE   8  (bases 1 to 2628)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24501781
REFERENCE   9  (bases 1 to 2628)
  AUTHORS   Palosaari PM and Hiltunen JK.
  TITLE     Peroxisomal bifunctional protein from rat liver is a trifunctional
            enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA
            dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase activities
  JOURNAL   J Biol Chem 265 (5), 2446-2449 (1990)
   PUBMED   2303409
REFERENCE   10  (bases 1 to 2628)
  AUTHORS   Watkins PA, Chen WW, Harris CJ, Hoefler G, Hoefler S, Blake DC Jr,
            Balfe A, Kelley RI, Moser AB, Beard ME et al.
  TITLE     Peroxisomal bifunctional enzyme deficiency
  JOURNAL   J Clin Invest 83 (3), 771-777 (1989)
   PUBMED   2921319
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: GQ901009.1, BC003098.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000510025.7/ ENSP00000424940.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312449.1 and BC003098.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000414.3.
            Summary: The protein encoded by this gene is a bifunctional enzyme
            that is involved in the peroxisomal beta-oxidation pathway for
            fatty acids. It also acts as a catalyst for the formation of
            3-ketoacyl-CoA intermediates from both straight-chain and
            2-methyl-branched-chain fatty acids. Defects in this gene that
            affect the peroxisomal fatty acid beta-oxidation activity are a
            cause of D-bifunctional protein deficiency (DBPD). An apparent
            pseudogene of this gene is present on chromosome 8. Multiple
            alternatively spliced transcript variants encoding distinct
            isoforms have been found for this gene. [provided by RefSeq, May
            2014].
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at an
            alternate start codon, compared to variant 1. The encoded isoform
            (2) has a distinct N-terminus and is shorter than isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2628
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.1"
     gene            1..2628
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="hydroxysteroid 17-beta dehydrogenase 4"
                     /db_xref="GeneID:3295"
                     /db_xref="HGNC:HGNC:5213"
                     /db_xref="MIM:601860"
     CDS             80..2290
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /EC_number="4.2.1.107"
                     /EC_number="4.2.1.119"
                     /EC_number="1.1.1.n12"
                     /note="isoform 2 is encoded by transcript variant 2;
                     hydroxysteroid dehydrogenase 4; peroxisomal multifunctional
                     enzyme type 2; 17-beta-HSD IV; 17-beta-hydroxysteroid
                     dehydrogenase 4; D-bifunctional protein, peroxisomal;
                     D-3-hydroxyacyl-CoA dehydratase; 3-alpha,7-alpha,
                     12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase;
                     beta-keto-reductase; beta-hydroxyacyl dehydrogenase;
                     17beta-estradiol dehydrogenase type IV; peroxisomal
                     multifunctional protein 2; short chain
                     dehydrogenase/reductase family 8C member 1; 17-beta-HSD 4;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="peroxisomal multifunctional enzyme type 2 isoform
                     2"
                     /protein_id="NP_000405.1"
                     /db_xref="CCDS:CCDS4126.1"
                     /db_xref="GeneID:3295"
                     /db_xref="HGNC:HGNC:5213"
                     /db_xref="MIM:601860"
                     /translation="MGSPLRFDGRVVLVTGAGAGLGRAYALAFAERGALVVVNDLGGDF
                     KGVGKGSLAADKVVEEIRRRGGKAVANYDSVEEGEKVVKTALDAFGRIDVVVNNAGILR
                     DRSFARISDEDWDIIHRVHLRGSFQVTRAAWEHMKKQKYGRIIMTSSASGIYGNFGQAN
                     YSAAKLGLLGLANSLAIEGRKSNIHCNTIAPNAGSRMTQTVMPEDLVEALKPEYVAPLV
                     LWLCHESCEENGGLFEVGAGWIGKLRWERTLGAIVRQKNHPMTPEAVKANWKKICDFEN
                     ASKPQSIQESTGSIIEVLSKIDSEGGVSANHTSRATSTATSGFAGAIGQKLPPFSYAYT
                     ELEAIMYALGVGASIKDPKDLKFIYEGSSDFSCLPTFGVIIGQKSMMGGGLAEIPGLSI
                     NFAKVLHGEQYLELYKPLPRAGKLKCEAVVADVLDKGSGVVIIMDVYSYSEKELICHNQ
                     FSLFLVGSGGFGGKRTSDKVKVAVAIPNRPPDAVLTDTTSLNQAALYRLSGDWNPLHID
                     PNFASLAGFDKPILHGLCTFGFSARRVLQQFADNDVSRFKAIKARFAKPVYPGQTLQTE
                     MWKEGNRIHFQTKVQETGDIVISNAYVDLAPTSGTSAKTPSEGGKLQSTFVFEEIGRRL
                     KDIGPEVVKKVNAVFEWHITKGGNIGAKWTIDLKSGSGKVYQGPAKGAADTTIILSDED
                     FMEVVLGKLDPQKAFFSGRLKARGNIMLSQKLQMILKDYAKL"
     mat_peptide     80..1012
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /product="(3R)-hydroxyacyl-CoA dehydrogenase.
                     /id=PRO_0000400082"
                     /note="propagated from UniProtKB/Swiss-Prot (P51659.3)"
     misc_feature    80..994
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="propagated from UniProtKB/Swiss-Prot (P51659.3);
                     Region: (3R)-hydroxyacyl-CoA dehydrogenase"
     misc_feature    215..217
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P51660; propagated from
                     UniProtKB/Swiss-Prot (P51659.3); acetylation site"
     misc_feature    233..235
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P51659.3); phosphorylation site"
     misc_feature    872..874
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P51659.3); phosphorylation site"
     misc_feature    989..991
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P51659.3); phosphorylation site"
     misc_feature    1004..1006
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P51659.3); phosphorylation site"
     mat_peptide     1013..2287
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /product="Enoyl-CoA hydratase 2. /id=PRO_0000400083"
                     /note="propagated from UniProtKB/Swiss-Prot (P51659.3)"
     misc_feature    1043..1945
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="propagated from UniProtKB/Swiss-Prot (P51659.3);
                     Region: Enoyl-CoA hydratase 2"
     misc_feature    1772..1774
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P51659.3); acetylation site"
     misc_feature    2084..2086
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P51659.3); acetylation site"
     misc_feature    2198..2200
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P51659.3); acetylation site"
     misc_feature    2279..2287
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="propagated from UniProtKB/Swiss-Prot (P51659.3);
                     Region: Microbody targeting signal. /evidence=ECO:0000255"
     regulatory      2532..2537
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="hexamer: AATAAA"
     polyA_site      2550
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="major polyA site"
     regulatory      2607..2612
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="hexamer: AATAAA"
     polyA_site      2628
                     /gene="HSD17B4"
                     /gene_synonym="DBP; MFE-2; MFP-2; MPF-2; PRLTS1; SDR8C1"
                     /note="major polyA site"
ORIGIN
        1 attccccgcc tcctcctgtc ccgcagtcgg cgtccagcgg ctctgcttgt tcgtgtgtgt
       61 gtcgttgcag gccttattca tgggctcacc gctgaggttc gacgggcggg tggtactggt
      121 caccggcgcg ggggcaggat tgggccgagc ctatgccctg gcttttgcag aaagaggagc
      181 gttagttgtt gtgaatgatt tgggagggga cttcaaagga gttggtaaag gctccttagc
      241 tgctgataag gttgttgaag aaataagaag gagaggtgga aaagcagtgg ccaactatga
      301 ttcagtggaa gaaggagaga aggttgtgaa gacagccctg gatgcttttg gaagaataga
      361 tgttgtggtc aacaatgctg gaattctgag ggatcgttcc tttgctagga taagtgatga
      421 agactgggat ataatccaca gagttcattt gcggggttca ttccaagtga cacgggcagc
      481 atgggaacac atgaagaaac agaagtatgg aaggattatt atgacttcat cagcttcagg
      541 aatatatggc aactttggcc aggccaatta tagtgctgca aagttgggtc ttctgggcct
      601 tgcaaattct cttgcaattg aaggcaggaa aagcaacatt cattgtaaca ccattgctcc
      661 taatgcggga tcacggatga ctcagacagt tatgcctgaa gatcttgtgg aagccctgaa
      721 gccagagtat gtggcacctc ttgtcctttg gctttgtcac gagagttgtg aggagaatgg
      781 tggcttgttt gaggttggag caggatggat tggaaaatta cgctgggagc ggactcttgg
      841 agctattgta agacaaaaga atcacccaat gactcctgag gcagtcaagg ctaactggaa
      901 gaagatctgt gactttgaga atgccagcaa gcctcagagt atccaagaat caactggcag
      961 tataattgaa gttctgagta aaatagattc agaaggagga gtttcagcaa atcatactag
     1021 tcgtgcaacg tctacagcaa catcaggatt tgctggagct attggccaga aactccctcc
     1081 attttcttat gcttatacgg aactggaagc tattatgtat gcccttggag tgggagcgtc
     1141 aatcaaggat ccaaaagatt tgaaatttat ttatgaagga agttctgatt tctcctgttt
     1201 gcccaccttc ggagttatca taggtcagaa atctatgatg ggtggaggat tagcagaaat
     1261 tcctggactt tcaatcaact ttgcaaaggt tcttcatgga gagcagtact tagagttata
     1321 taaaccactt cccagagcag gaaaattaaa atgtgaagca gttgttgctg atgtcctaga
     1381 taaaggatcc ggtgtagtga ttattatgga tgtctattct tattctgaga aggaacttat
     1441 atgccacaat cagttctctc tctttcttgt tggctctgga ggctttggtg gaaaacggac
     1501 atcagacaaa gtcaaggtag ctgtagccat acctaataga cctcctgatg ctgtacttac
     1561 agataccacc tctcttaatc aggctgcttt gtaccgcctc agtggagact ggaatccctt
     1621 acacattgat cctaactttg ctagtctagc aggttttgac aagcccatat tacatggatt
     1681 atgtacattt ggattttctg ccaggcgtgt gttacagcag tttgcagata atgatgtgtc
     1741 aagattcaag gcaattaagg ctcgttttgc aaaaccagta tatccaggac aaactctaca
     1801 aactgagatg tggaaggaag gaaacagaat tcattttcaa accaaggtcc aagaaactgg
     1861 agacattgtc atttcaaatg catatgtgga tcttgcacca acatctggta cttcagctaa
     1921 gacaccctct gagggcggga agcttcagag tacctttgta tttgaggaaa taggacgccg
     1981 cctaaaggat attgggcctg aggtggtgaa gaaagtaaat gctgtatttg agtggcatat
     2041 aaccaaaggc ggaaatattg gggctaagtg gactattgac ctgaaaagtg gttctggaaa
     2101 agtgtaccaa ggccctgcaa aaggtgctgc tgatacaaca atcatacttt cagatgaaga
     2161 tttcatggag gtggtcctgg gcaagcttga ccctcagaag gcattcttta gtggcaggct
     2221 gaaggccaga gggaacatca tgctgagcca gaaacttcag atgattctta aagactacgc
     2281 caagctctga agggcacact acactattaa taaaaatgga atcattaaat actctcttca
     2341 cccaaatatg cttgattatt ctgcaaaagt gattagaact aagatgcagg ggaaattgct
     2401 taacattttc agatatcaga taactgcaga ttttcatttt ctactaattt ttcatgtatc
     2461 attattttta caaggaacta tatataagct agcacataat tatccttctg ttcttagatc
     2521 tgtatcttca taataaaaaa ttttgcccaa gtcctgtttc cttagaattt gtgatagcat
     2581 tgataagttg aaaggaaaat taaatcaata aaggcctttg ataccttt
//
LOCUS       NM_000415               1942 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens islet amyloid polypeptide (IAPP), transcript variant 1,
            mRNA.
ACCESSION   NM_000415
VERSION     NM_000415.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1942)
  AUTHORS   Li MH, Zhang X, London E and Raleigh DP.
  TITLE     Impact of Ca2+ on membrane catalyzed IAPP amyloid formation and IAPP
            induced vesicle leakage
  JOURNAL   Biochim Biophys Acta Biomembr 1865 (6), 184161 (2023)
   PUBMED   37121365
  REMARK    GeneRIF: Impact of Ca[2+] on membrane catalyzed IAPP amyloid
            formation and IAPP induced vesicle leakage.
REFERENCE   2  (bases 1 to 1942)
  AUTHORS   Sanders HM, Chalyavi F, Fields CR, Kostelic MM, Li MH, Raleigh DP,
            Zanni MT and Marty MT.
  TITLE     Interspecies Variation Affects Islet Amyloid Polypeptide Membrane
            Binding
  JOURNAL   J Am Soc Mass Spectrom 34 (6), 986-990 (2023)
   PUBMED   37126782
  REMARK    GeneRIF: Interspecies Variation Affects Islet Amyloid Polypeptide
            Membrane Binding.
REFERENCE   3  (bases 1 to 1942)
  AUTHORS   Lewis A, Pham T, Nguyen N, Graf A and Cheng KH.
  TITLE     Lipid domain boundary triggers membrane damage and protein folding
            of human islet amyloid polypeptide in the early pathogenesis of
            amyloid diseases
  JOURNAL   Biophys Chem 296, 106993 (2023)
   PUBMED   36898349
  REMARK    GeneRIF: Lipid domain boundary triggers membrane damage and protein
            folding of human islet amyloid polypeptide in the early pathogenesis
            of amyloid diseases.
REFERENCE   4  (bases 1 to 1942)
  AUTHORS   Poceviciute D, Roth B, Schultz N, Nunez-Diaz C, Janelidze S, The
            Netherlands Brain Bank, Olofsson A, Hansson O and Wennstrom M.
  TITLE     Plasma IAPP-Autoantibody Levels in Alzheimer's Disease Patients Are
            Affected by APOE4 Status
  JOURNAL   Int J Mol Sci 24 (4), 3776 (2023)
   PUBMED   36835187
  REMARK    GeneRIF: Plasma IAPP-Autoantibody Levels in Alzheimer's Disease
            Patients Are Affected by APOE4 Status. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 1942)
  AUTHORS   Mietlicki-Baase EG.
  TITLE     Amylin-mediated control of glycemia, energy balance, and cognition
  JOURNAL   Physiol Behav 162, 130-140 (2016)
   PUBMED   26922873
  REMARK    Review article
REFERENCE   6  (bases 1 to 1942)
  AUTHORS   Wang L, Liu Q, Chen JC, Cui YX, Zhou B, Chen YX, Zhao YF and Li YM.
  TITLE     Antimicrobial activity of human islet amyloid polypeptides: an
            insight into amyloid peptides' connection with antimicrobial
            peptides
  JOURNAL   Biol Chem 393 (7), 641-646 (2012)
   PUBMED   22944668
  REMARK    GeneRIF: antimicrobial activity of human islet amyloid polypeptide
            against clinically relevant bacteria
REFERENCE   7  (bases 1 to 1942)
  AUTHORS   Hoppener JW, Oosterwijk C, Visser-Vernooy HJ, Lips CJ and Jansz HS.
  TITLE     Characterization of the human islet amyloid polypeptide/amylin gene
            transcripts: identification of a new polyadenylation site
  JOURNAL   Biochem Biophys Res Commun 189 (3), 1569-1577 (1992)
   PUBMED   1282806
REFERENCE   8  (bases 1 to 1942)
  AUTHORS   Hubbard JA, Martin SR, Chaplin LC, Bose C, Kelly SM and Price NC.
  TITLE     Solution structures of calcitonin-gene-related-peptide analogues of
            calcitonin-gene-related peptide and amylin
  JOURNAL   Biochem J 275 (Pt 3) (Pt 3), 785-788 (1991)
   PUBMED   2039456
REFERENCE   9  (bases 1 to 1942)
  AUTHORS   van Mansfeld AD, Mosselman S, Hoppener JW, Zandberg J, van Teeffelen
            HA, Baas PD, Lips CJ and Jansz HS.
  TITLE     Islet amyloid polypeptide: structure and upstream sequences of the
            IAPP gene in rat and man
  JOURNAL   Biochim Biophys Acta 1087 (2), 235-240 (1990)
   PUBMED   2223885
REFERENCE   10  (bases 1 to 1942)
  AUTHORS   Butler PC, Chou J, Carter WB, Wang YN, Bu BH, Chang D, Chang JK and
            Rizza RA.
  TITLE     Effects of meal ingestion on plasma amylin concentration in NIDDM
            and nondiabetic humans
  JOURNAL   Diabetes 39 (6), 752-756 (1990)
   PUBMED   2189768
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: J04422.1, BP323132.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA2144335 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000240652.8/ ENSP00000240652.3
            Protein has antimicrobial activity :: PMID: 22944668
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from J04422.1, X14905.1 and
            BQ548699.1.
            On May 17, 2019 this sequence version replaced NM_000415.2.
            Summary: This gene encodes a member of the calcitonin family of
            peptide hormones. This hormone is released from pancreatic beta
            cells following food intake to regulate blood glucose levels and
            act as a satiation signal. Human patients with type 1 and advanced
            type 2 diabetes exhibit reduced levels of the encoded hormone in
            blood and pancreas. This protein also exhibits a bactericidal,
            antimicrobial activity. [provided by RefSeq, Jul 2016].
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1942
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.1"
     gene            1..1942
                     /gene="IAPP"
                     /gene_synonym="DAP; IAP"
                     /note="islet amyloid polypeptide"
                     /db_xref="GeneID:3375"
                     /db_xref="HGNC:HGNC:5329"
                     /db_xref="MIM:147940"
     misc_feature    110..112
                     /gene="IAPP"
                     /gene_synonym="DAP; IAP"
                     /note="upstream in-frame stop codon"
     CDS             119..388
                     /gene="IAPP"
                     /gene_synonym="DAP; IAP"
                     /note="Islet amyloid polypeptide (diabetes-associated
                     peptide; amylin); insulinoma amyloid peptide"
                     /codon_start=1
                     /product="islet amyloid polypeptide preproprotein"
                     /protein_id="NP_000406.1"
                     /db_xref="CCDS:CCDS8688.1"
                     /db_xref="GeneID:3375"
                     /db_xref="HGNC:HGNC:5329"
                     /db_xref="MIM:147940"
                     /translation="MGILKLQVFLIVLSVALNHLKATPIESHQVEKRKCNTATCATQRL
                     ANFLVHSSNNFGAILSSTNVGSNTYGKRNAVEVLKREPLNYLPL"
     sig_peptide     119..184
                     /gene="IAPP"
                     /gene_synonym="DAP; IAP"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     218..328
                     /gene="IAPP"
                     /gene_synonym="DAP; IAP"
                     /product="islet amyloid polypeptide"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     22944668]"
     misc_feature    326..328
                     /gene="IAPP"
                     /gene_synonym="DAP; IAP"
                     /note="Tyrosine amide.
                     /evidence=ECO:0000269|PubMed:2651160,
                     ECO:0000269|PubMed:3053705; propagated from
                     UniProtKB/Swiss-Prot (P10997.1); amidation site"
     regulatory      562..567
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IAPP"
                     /gene_synonym="DAP; IAP"
                     /note="hexamer: AATAAA"
     polyA_site      591
                     /gene="IAPP"
                     /gene_synonym="DAP; IAP"
                     /note="major polyA site"
     regulatory      1422..1427
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IAPP"
                     /gene_synonym="DAP; IAP"
                     /note="hexamer: ATTAAA"
     polyA_site      1447
                     /gene="IAPP"
                     /gene_synonym="DAP; IAP"
                     /note="major polyA site"
ORIGIN
        1 gagggggtaa atattccagt ggatacaagc ttggactctt ttcttgaagc tttctttcta
       61 tcagaagcat ttgctgatat tgctgacatt gaaacattaa aagaaaattt gagaagcaat
      121 gggcatcctg aagctgcaag tatttctcat tgtgctctct gttgcattga accatctgaa
      181 agctacaccc attgaaagtc atcaggtgga aaagcggaaa tgcaacactg ccacatgtgc
      241 aacgcagcgc ctggcaaatt ttttagttca ttccagcaac aactttggtg ccattctctc
      301 atctaccaac gtgggatcca atacatatgg caagaggaat gcagtagagg ttttaaagag
      361 agagccactg aattacttgc ccctttagag gacaatgtaa ctctatagtt attgttttat
      421 gttctagtga tttcctgtat aatttaacag tgcccttttc atctccagtg tgaatatatg
      481 gtctgtgtgt ctgatgtttg ttgctaggac atataccttc tcaaaagatt gttttatatg
      541 tagtactaac taaggtccca taataaaaag atagtatctt ttaaaatgaa atgtttttgc
      601 tatagatttg tattttaaaa cataagaacg tcattttggg acctatatct cagtggcaca
      661 ggtttaagaa cgaaggagaa aaaggtagtt tgaaccttgg taaattgtaa acagctaata
      721 atgaagttat tcttgacatg agaaaatcag taattggacc aggcgcggtg gctcttgcct
      781 gtaatcccag cactttggga ggccgaggca ggcagatcac aaggtcagga gttcgagacc
      841 agcctgacca acatggtgaa accctgtctc tactaaaaat acaaaaatta gccgggggtg
      901 gtgacatgtg cctgtaatcc cagctactca ggaggctaag gcaggagaat cgcttaaacc
      961 caggaggcgg aggttgcagt gagccgagat tgcaccactg cactccagcc tgggtggcag
     1021 agtgagactc gtctcaaaaa aaagaaagaa aattagtaat tgtaagtacc cctgataagc
     1081 aaattagtaa ttgtcaatac ccctgttaag caattccttt ttgcagtata tttctgaaat
     1141 gacagaatgc tgttttaaaa acaaagaaat aaaatcctgc tcctgactcg gtcaaaatat
     1201 tttttaaagt ctattgtttg ttgtgcttgc tggtactaag aggctattta aaagtataaa
     1261 actgctttgt atccatgagg gtttcattgt gtgttagcag cagtgagctt ctattaaatg
     1321 tatatgtcat ttattttgtt taagtggctt tcagcaaacc tcagtcatat tcttatgcag
     1381 ggtattgcga aacaacttgt gttctattaa tcgtgtcttc aattaaaaga ccacagactt
     1441 ctggaaactc tttgctgtat aagaattatt tcttttgttt aacaaattag acatttctgg
     1501 cagaggttat gtatatgata cacttttttt gatagcagct gcaatgttgg acagaagatg
     1561 aaatgctttg ctttgagtca gattcttatg aatatctgct tttccctgac tttgagttag
     1621 gtagctttgg aagtagcatt aattcagata aactgccatc atgctgcgtt atgccatttc
     1681 taaagacact caacttgtac ttttaaaaaa atagaaaaaa taagcatttc aatctaagtg
     1741 gaaatttgac tcattgactt acatttctaa gttaaaattt ccctttatga agtgtgcctt
     1801 aggttaccaa attgtagagg ctttcgttgg tggtggtaag tggtagcggt agtgagtgta
     1861 tagaggcagg gaaatatatt tataataaat tctatgtcat gaattacata ttgaaataaa
     1921 taggtgaata tacaaattta ta
//
LOCUS       NM_000416               2074 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens interferon gamma receptor 1 (IFNGR1), transcript
            variant 1, mRNA.
ACCESSION   NM_000416
VERSION     NM_000416.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2074)
  AUTHORS   Dhiman NS, Saini V and Kumar V.
  TITLE     Single nucleotide polymorphism rs2234711 of interferon gamma
            receptor 1 is associated with pulmonary tuberculosis in the
            population of North India
  JOURNAL   Cytokine 169, 156274 (2023)
   PUBMED   37327531
  REMARK    GeneRIF: Single nucleotide polymorphism rs2234711 of interferon
            gamma receptor 1 is associated with pulmonary tuberculosis in the
            population of North India.
REFERENCE   2  (bases 1 to 2074)
  AUTHORS   Tsai KD, Lee YC, Chen BY, Wu LS, Liang SY, Liu MY, Hung YW, Hsu HL,
            Chen PQ, Shieh JC, Lee YJ and Lin TH.
  TITLE     Recombinant Klotho attenuates IFNgamma receptor signaling and SAMHD1
            expression through blocking NF-kappaB translocation in glomerular
            mesangial cells
  JOURNAL   Int J Med Sci 20 (6), 810-817 (2023)
   PUBMED   37213666
  REMARK    GeneRIF: Recombinant Klotho attenuates IFNgamma receptor signaling
            and SAMHD1 expression through blocking NF-kappaB translocation in
            glomerular mesangial cells. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2074)
  AUTHORS   Wu SQ, Ding XJ, Yang QL, Wang MG and He JQ.
  TITLE     IFNG and IFNGR1 polymorphisms are associated with tuberculosis: a
            case-control study
  JOURNAL   Eur Rev Med Pharmacol Sci 26 (23), 8777-8787 (2022)
   PUBMED   36524496
  REMARK    GeneRIF: IFNG and IFNGR1 polymorphisms are associated with
            tuberculosis: a case-control study.
REFERENCE   4  (bases 1 to 2074)
  AUTHORS   Cheng L, Zhang F, Wang Y, Chen J and Yuan X.
  TITLE     Association between IFNGR1 gene polymorphisms and tuberculosis
            susceptibility: A meta-analysis
  JOURNAL   Front Public Health 10, 976221 (2022)
   PUBMED   36148347
  REMARK    GeneRIF: Association between IFNGR1 gene polymorphisms and
            tuberculosis susceptibility: A meta-analysis. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 2074)
  AUTHORS   Varahram M, Besharati S, Farnia P, Ghanavi J, Saif S, Nia JH, Madani
            MR, Farnia P and Velayati AA.
  TITLE     Correlation of single-nucleotide polymorphism at interferon-gamma R1
            (at Position - 56) in positive purified protein derivative health
            workers with COVID-19 infection
  JOURNAL   Int J Mycobacteriol 11 (3), 318-322 (2022)
   PUBMED   36260452
  REMARK    GeneRIF: Correlation of single-nucleotide polymorphism at
            interferon-gamma R1 (at Position - 56) in positive purified protein
            derivative health workers with COVID-19 infection.
REFERENCE   6  (bases 1 to 2074)
  AUTHORS   Szente BE, Subramaniam PS and Johnson HM.
  TITLE     Identification of IFN-gamma receptor binding sites for JAK2 and
            enhancement of binding by IFN-gamma and its C-terminal peptide
            IFN-gamma(95-133)
  JOURNAL   J Immunol 155 (12), 5617-5622 (1995)
   PUBMED   7499845
REFERENCE   7  (bases 1 to 2074)
  AUTHORS   van Loon AP, Ozmen L, Fountoulakis M, Kania M, Haiker M and Garotta
            G.
  TITLE     High-affinity receptor for interferon-gamma (IFN-gamma), a
            ubiquitous protein occurring in different molecular forms on human
            cells: blood monocytes and eleven different cell lines have the same
            IFN-gamma receptor protein
  JOURNAL   J Leukoc Biol 49 (5), 462-473 (1991)
   PUBMED   1826725
REFERENCE   8  (bases 1 to 2074)
  AUTHORS   Le Coniat M, Alcaide-Loridan C, Fellous M and Berger R.
  TITLE     Human interferon gamma receptor 1 (IFNGR1) gene maps to chromosome
            region 6q23-6q24
  JOURNAL   Hum Genet 84 (1), 92-94 (1989)
   PUBMED   2532616
REFERENCE   9  (bases 1 to 2074)
  AUTHORS   Aguet M, Dembic Z and Merlin G.
  TITLE     Molecular cloning and expression of the human interferon-gamma
            receptor
  JOURNAL   Cell 55 (2), 273-280 (1988)
   PUBMED   2971451
REFERENCE   10  (bases 1 to 2074)
  AUTHORS   Novick,D., Orchansky,P., Revel,M. and Rubinstein,M.
  TITLE     The human interferon-gamma receptor. Purification, characterization,
            and preparation of antibodies
  JOURNAL   J Biol Chem 262 (18), 8483-8487 (1987)
   PUBMED   2954953
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: J03143.1, EF535103.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367739.9/ ENSP00000356713.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC005333.1, AK127636.1 and
            BU674317.1.
            On Dec 4, 2019 this sequence version replaced NM_000416.2.
            Summary: This gene (IFNGR1) encodes the ligand-binding chain
            (alpha) of the gamma interferon receptor. Human interferon-gamma
            receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation
            in IFNGR1 is associated with susceptibility to Helicobacter pylori
            infection. In addition, defects in IFNGR1 are a cause of mendelian
            susceptibility to mycobacterial disease, also known as familial
            disseminated atypical mycobacterial infection. [provided by RefSeq,
            Jul 2008].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2074
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.3"
     gene            1..2074
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="interferon gamma receptor 1"
                     /db_xref="GeneID:3459"
                     /db_xref="HGNC:HGNC:5439"
                     /db_xref="MIM:107470"
     CDS             59..1528
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; antiviral protein, type 2; CD119 antigen; AVP, type 2;
                     interferon-gamma receptor alpha chain; immune interferon
                     receptor 1; IFN-gamma-R-alpha; CDw119; IFN-gamma-R1;
                     IFN-gamma receptor 1"
                     /codon_start=1
                     /product="interferon gamma receptor 1 isoform 1 precursor"
                     /protein_id="NP_000407.1"
                     /db_xref="CCDS:CCDS5185.1"
                     /db_xref="GeneID:3459"
                     /db_xref="HGNC:HGNC:5439"
                     /db_xref="MIM:107470"
                     /translation="MALLFLLPLVMQGVSRAEMGTADLGPSSVPTPTNVTIESYNMNPI
                     VYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINISHHYCNISDHVGDPSNSLWVRVKA
                     RVGQKESAYAKSEEFAVCRDGKIGPPKLDIRKEEKQIMIDIFHPSVFVNGDEQEVDYDP
                     ETTCYIRVYNVYVRMNGSEIQYKILTQKEDDCDEIQCQLAIPVSSLNSQYCVSAEGVLH
                     VWGVTTEKSKEVCITIFNSSIKGSLWIPVVAALLLFLVLSLVFICFYIKKINPLKEKSI
                     ILPKSLISVVRSATLETKPESKYVSLITSYQPFSLEKEVVCEEPLSPATVPGMHTEDNP
                     GKVEHTEELSSITEVVTTEENIPDVVPGSHLTPIERESSSPLSSNQSEPGSIALNSYHS
                     RNCSESDHSRNGFDTDSSCLESHSSLSDSEFPPNNKGEIKTEGQELITVIKAPTSFGYD
                     KPHVLVDLLVDDSGKESLIGYRPTEDSKEFS"
     sig_peptide     59..109
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     110..1525
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /product="interferon gamma receptor 1 isoform 1"
     misc_feature    158..160
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P15260.1); glycosylation site"
     misc_feature    293..295
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P15260.1); glycosylation site"
     misc_feature    314..316
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P15260.1); glycosylation site"
     misc_feature    593..595
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P15260.1); glycosylation site"
     misc_feature    776..778
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P15260.1); glycosylation site"
     misc_feature    794..856
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="propagated from UniProtKB/Swiss-Prot (P15260.1);
                     transmembrane region"
     misc_feature    1043..1369
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="propagated from UniProtKB/Swiss-Prot (P15260.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1163..1165
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P15261; propagated from
                     UniProtKB/Swiss-Prot (P15260.1); phosphorylation site"
     misc_feature    1172..1174
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P15261; propagated from
                     UniProtKB/Swiss-Prot (P15260.1); phosphorylation site"
     misc_feature    1190..1192
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P15261; propagated from
                     UniProtKB/Swiss-Prot (P15260.1); phosphorylation site"
     misc_feature    1265..1267
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P15261; propagated from
                     UniProtKB/Swiss-Prot (P15260.1); phosphorylation site"
     misc_feature    1427..1429
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:8156998; propagated from
                     UniProtKB/Swiss-Prot (P15260.1); phosphorylation site"
     regulatory      2055..2060
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="hexamer: AATAAA"
     polyA_site      2074
                     /gene="IFNGR1"
                     /gene_synonym="CD119; IFNGR; IMD27A; IMD27B"
                     /note="major polyA site"
ORIGIN
        1 agtgctgggc tggtcccgca ggcgctcggg gttggagcca gcgaccgtcg gtagcagcat
       61 ggctctcctc tttctcctac cccttgtcat gcagggtgtg agcagggctg agatgggcac
      121 cgcggatctg gggccgtcct cagtgcctac accaactaat gttacaattg aatcctataa
      181 catgaaccct atcgtatatt gggagtacca gatcatgcca caggtccctg tttttaccgt
      241 agaggtaaag aactatggtg ttaagaattc agaatggatt gatgcctgca tcaatatttc
      301 tcatcattat tgtaatattt ctgatcatgt tggtgatcca tcaaattctc tttgggtcag
      361 agttaaagcc agggttggac aaaaagaatc tgcctatgca aagtcagaag aatttgctgt
      421 atgccgagat ggaaaaattg gaccacctaa actggatatc agaaaggagg agaagcaaat
      481 catgattgac atatttcacc cttcagtttt tgtaaatgga gacgagcagg aagtcgatta
      541 tgatcccgaa actacctgtt acattagggt gtacaatgtg tatgtgagaa tgaacggaag
      601 tgagatccag tataaaatac tcacgcagaa ggaagatgat tgtgacgaga ttcagtgcca
      661 gttagcgatt ccagtatcct cactgaattc tcagtactgt gtttcagcag aaggagtctt
      721 acatgtgtgg ggtgttacaa ctgaaaagtc aaaagaagtt tgtattacca ttttcaatag
      781 cagtataaaa ggttctcttt ggattccagt tgttgctgct ttactactct ttctagtgct
      841 tagcctggta ttcatctgtt tttatattaa gaaaattaat ccattgaagg aaaaaagcat
      901 aatattaccc aagtccttga tctctgtggt aagaagtgct actttagaga caaaacctga
      961 atcaaaatat gtatcactca tcacgtcata ccagccattt tccttagaaa aggaggtggt
     1021 ctgtgaagag ccgttgtctc cagcaacagt tccaggcatg cataccgaag acaatccagg
     1081 aaaagtggaa catacagaag aactttctag tataacagaa gtggtgacta ctgaagaaaa
     1141 tattcctgac gtggtcccgg gcagccatct gactccaata gagagagaga gttcttcacc
     1201 tttaagtagt aaccagtctg aacctggcag catcgcttta aactcgtatc actccagaaa
     1261 ttgttctgag agtgatcact ccagaaatgg ttttgatact gattccagct gtctggaatc
     1321 acatagctcc ttatctgact cagaatttcc cccaaataat aaaggtgaaa taaaaacaga
     1381 aggacaagag ctcataaccg taataaaagc ccccacctcc tttggttatg ataaaccaca
     1441 tgtgctagtg gatctacttg tggatgatag cggtaaagag tccttgattg gttatagacc
     1501 aacagaagat tccaaagaat tttcatgaga tcagctaagt tgcaccaact ttgaagtctg
     1561 attttcctgg acagttttct gctttaattt catgaaaaga ttatgatctc agaaattgta
     1621 tcttagttgg tatcaaccaa atggagtgac ttagtgtaca tgaaagcgta aagaggatgt
     1681 gtggcatttt cacttttggc ttgtaaagta cagacttttt ttttttttta aacaaaaaaa
     1741 gcattgtaac ttatgaacct ttacatccag ataggttacc agtaacggaa cagtatccag
     1801 tactcctggt tcctaggtga gcaggtgatg ccccagggac ctttgtagcc acttcacttt
     1861 ttttcttttc tctgccttgg tatagcatat gtttttgtaa gtttatgcat acagtaattt
     1921 taagtaattt cagaagaaat tctgcaagct tttcaaaatt ggacttaaaa tctaattcaa
     1981 actaatagaa ttaatggaat atgtaaatag aaacgtgtat attttttatg aaacattaca
     2041 gttagagatt tttaaataaa gaattttaaa actc
//
LOCUS       NM_000417               3218 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens interleukin 2 receptor subunit alpha (IL2RA),
            transcript variant 1, mRNA.
ACCESSION   NM_000417
VERSION     NM_000417.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3218)
  AUTHORS   Pahkuri S, Ekman I, Vandamme C, Nanto-Salonen K, Toppari J, Veijola
            R, Knip M, Kinnunen T, Ilonen J and Lempainen J.
  TITLE     DNA methylation differences within INS, PTPN22 and IL2RA promoters
            in lymphocyte subsets in children with type 1 diabetes and controls
  JOURNAL   Autoimmunity 56 (1), 2259118 (2023)
   PUBMED   37724526
  REMARK    GeneRIF: DNA methylation differences within INS, PTPN22 and IL2RA
            promoters in lymphocyte subsets in children with type 1 diabetes and
            controls.
REFERENCE   2  (bases 1 to 3218)
  AUTHORS   Erdem SB, Genel F, Nacaroglu HT, Karaman S, Karkiner CSU, Surucu M
            and Can D.
  TITLE     CD4+CD25+CD127loFOXP3+ cell in food allergy: Does it predict
            anaphylaxis?
  JOURNAL   Allergol Immunopathol (Madr) 51 (3), 8-14 (2023)
   PUBMED   37169554
  REMARK    GeneRIF: CD4+CD25+CD127[lo]FOXP3+ cell in food allergy: Does it
            predict anaphylaxis? Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3218)
  AUTHORS   Hernandez JD and Hsieh EWY.
  TITLE     A great disturbance in the force: IL-2 receptor defects disrupt
            immune homeostasis
  JOURNAL   Curr Opin Pediatr 34 (6), 580-588 (2022)
   PUBMED   36165614
  REMARK    GeneRIF: A great disturbance in the force: IL-2 receptor defects
            disrupt immune homeostasis. Review article
REFERENCE   4  (bases 1 to 3218)
  AUTHORS   Qiao Y, Wang Y, Xu Y, Zhang J, Su Y, Cheng Y, Bi D, Song J, Xia L,
            Li M, Zhang X, Zhu D, Wang T, Ding J, Wang X, Zhu C and Xing Q.
  TITLE     An association study of IL2RA polymorphisms with cerebral palsy in a
            Chinese population
  JOURNAL   BMC Med Genomics 15 (1), 208 (2022)
   PUBMED   36195861
  REMARK    GeneRIF: An association study of IL2RA polymorphisms with cerebral
            palsy in a Chinese population. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3218)
  AUTHORS   Chen Y, Qian S, Chen Y, Liu K, Yin W and Luo X.
  TITLE     KIAA0101 and IL2RA Were Identified as Core Genes in
            Hormone-Resistant Nephropathy
  JOURNAL   Dis Markers 2022, 6545266 (2022)
   PUBMED   36164371
  REMARK    GeneRIF: KIAA0101 and IL2RA Were Identified as Core Genes in
            Hormone-Resistant Nephropathy. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3218)
  AUTHORS   Wang F, Hou H, Wang T, Luo Y, Tang G, Wu S, Zhou H and Sun Z.
  TITLE     Establishing a model for predicting the outcome of COVID-19 based on
            combination of laboratory tests
  JOURNAL   Travel Med Infect Dis 36, 101782 (2020)
   PUBMED   32526372
REFERENCE   7  (bases 1 to 3218)
  AUTHORS   Purvis SF, Georges DL, Williams TM and Lederman MM.
  TITLE     Suppression of interleukin-2 and interleukin-2 receptor expression
            in Jurkat cells stably expressing the human immunodeficiency virus
            Tat protein
  JOURNAL   Cell Immunol 144 (1), 32-42 (1992)
   PUBMED   1394441
REFERENCE   8  (bases 1 to 3218)
  AUTHORS   Carter CR, Hancock BW and Rees RC.
  TITLE     The augmentation of lymphokine-activated killer activity following
            pulsing of human peripheral blood mononuclear cells with recombinant
            human interleukin-2
  JOURNAL   Cancer Immunol Immunother 35 (4), 264-270 (1992)
   PUBMED   1511461
REFERENCE   9  (bases 1 to 3218)
  AUTHORS   Kanegane H, Miyawaki T, Kato K, Yokoi T, Uehara T, Yachie A and
            Taniguchi N.
  TITLE     A novel subpopulation of CD45RA+ CD4+ T cells expressing IL-2
            receptor alpha-chain (CD25) and having a functionally transitional
            nature into memory cells
  JOURNAL   Int Immunol 3 (12), 1349-1356 (1991)
   PUBMED   1685671
REFERENCE   10  (bases 1 to 3218)
  AUTHORS   Kuziel WA and Greene WC.
  TITLE     Interleukin-2 and the IL-2 receptor: new insights into structure and
            function
  JOURNAL   J Invest Dermatol 94 (6 Suppl), 27S-32S (1990)
   PUBMED   1693645
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1705556.1, X01057.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142670,
            SAMEA2151358 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related         :: relevant for COVID-19 prognosis
            MANE Ensembl match          :: ENST00000379959.8/ ENSP00000369293.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157395.17, X01057.1 and
            AL137186.18.
            On Aug 31, 2019 this sequence version replaced NM_000417.2.
            Summary: The interleukin 2 (IL2) receptor alpha (IL2RA) and beta
            (IL2RB) chains, together with the common gamma chain (IL2RG),
            constitute the high-affinity IL2 receptor. Homodimeric alpha chains
            (IL2RA) result in low-affinity receptor, while homodimeric beta
            (IL2RB) chains produce a medium-affinity receptor. Normally an
            integral-membrane protein, soluble IL2RA has been isolated and
            determined to result from extracellular proteolyisis.
            Alternately-spliced IL2RA mRNAs have been isolated, but the
            significance of each is presently unknown. Mutations in this gene
            are associated with interleukin 2 receptor alpha deficiency.
            Patients with severe Coronavirus Disease 2019 (COVID-19), the
            disease caused by the novel severe acute respiratory syndrome
            coronavirus 2 (SARS-CoV-2), have significantly elevated levels of
            IL2R in their plasma. Similarly, serum IL-2R levels are found to be
            elevated in patients with different types of carcinomas. Certain
            IL2RA and IL2RB gene polymorphisms have been associated with lung
            cancer risk. [provided by RefSeq, Jul 2020].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3218
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p15.1"
     gene            1..3218
                     /gene="IL2RA"
                     /gene_synonym="CD25; IDDM10; IL2R; IMD41; p55; TCGFR"
                     /note="interleukin 2 receptor subunit alpha"
                     /db_xref="GeneID:3559"
                     /db_xref="HGNC:HGNC:6008"
                     /db_xref="MIM:147730"
     misc_feature    145..147
                     /gene="IL2RA"
                     /gene_synonym="CD25; IDDM10; IL2R; IMD41; p55; TCGFR"
                     /note="upstream in-frame stop codon"
     CDS             217..1035
                     /gene="IL2RA"
                     /gene_synonym="CD25; IDDM10; IL2R; IMD41; p55; TCGFR"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; TAC antigen; IL-2R subunit alpha; IL-2 receptor subunit
                     alpha; interleukin 2 receptor, alpha"
                     /codon_start=1
                     /product="interleukin-2 receptor subunit alpha isoform 1
                     precursor"
                     /protein_id="NP_000408.1"
                     /db_xref="CCDS:CCDS7076.1"
                     /db_xref="GeneID:3559"
                     /db_xref="HGNC:HGNC:6008"
                     /db_xref="MIM:147730"
                     /translation="MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMAYKEGT
                     MLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQCQCTSSATRNTTKQVTPQPEEQKER
                     KTTEMQSPMQPVDQASLPGHCREPPPWENEATERIYHFVVGQMVYYQCVQGYRALHRGP
                     AESVCKMTHGKTRWTQPQLICTGEMETSQFPGEEKPQASPEGRPESETSCLVTTTDFQI
                     QTEMAATMETSIFTTEYQVAVAGCVFLLISVLLLSGLTWQRRQRKSRRTI"
     sig_peptide     217..279
                     /gene="IL2RA"
                     /gene_synonym="CD25; IDDM10; IL2R; IMD41; p55; TCGFR"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     280..1032
                     /gene="IL2RA"
                     /gene_synonym="CD25; IDDM10; IL2R; IMD41; p55; TCGFR"
                     /product="Interleukin-2 receptor subunit alpha.
                     /id=PRO_0000011024"
                     /note="propagated from UniProtKB/Swiss-Prot (P01589.1)"
     misc_feature    424..426
                     /gene="IL2RA"
                     /gene_synonym="CD25; IDDM10; IL2R; IMD41; p55; TCGFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:3134887; propagated from
                     UniProtKB/Swiss-Prot (P01589.1); glycosylation site"
     misc_feature    475..585
                     /gene="IL2RA"
                     /gene_synonym="CD25; IDDM10; IL2R; IMD41; p55; TCGFR"
                     /note="propagated from UniProtKB/Swiss-Prot (P01589.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    481..483
                     /gene="IL2RA"
                     /gene_synonym="CD25; IDDM10; IL2R; IMD41; p55; TCGFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:3134887; propagated from
                     UniProtKB/Swiss-Prot (P01589.1); glycosylation site"
     misc_feature    784..852
                     /gene="IL2RA"
                     /gene_synonym="CD25; IDDM10; IL2R; IMD41; p55; TCGFR"
                     /note="propagated from UniProtKB/Swiss-Prot (P01589.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    868..870
                     /gene="IL2RA"
                     /gene_synonym="CD25; IDDM10; IL2R; IMD41; p55; TCGFR"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3134887; propagated from
                     UniProtKB/Swiss-Prot (P01589.1); glycosylation site"
     misc_feature    886..888
                     /gene="IL2RA"
                     /gene_synonym="CD25; IDDM10; IL2R; IMD41; p55; TCGFR"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3134887; propagated from
                     UniProtKB/Swiss-Prot (P01589.1); glycosylation site"
     misc_feature    901..903
                     /gene="IL2RA"
                     /gene_synonym="CD25; IDDM10; IL2R; IMD41; p55; TCGFR"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3134887; propagated from
                     UniProtKB/Swiss-Prot (P01589.1); glycosylation site"
     misc_feature    925..927
                     /gene="IL2RA"
                     /gene_synonym="CD25; IDDM10; IL2R; IMD41; p55; TCGFR"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3134887; propagated from
                     UniProtKB/Swiss-Prot (P01589.1); glycosylation site"
     misc_feature    937..993
                     /gene="IL2RA"
                     /gene_synonym="CD25; IDDM10; IL2R; IMD41; p55; TCGFR"
                     /note="propagated from UniProtKB/Swiss-Prot (P01589.1);
                     transmembrane region"
     regulatory      3197..3202
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL2RA"
                     /gene_synonym="CD25; IDDM10; IL2R; IMD41; p55; TCGFR"
                     /note="hexamer: AATAAA"
     polyA_site      3218
                     /gene="IL2RA"
                     /gene_synonym="CD25; IDDM10; IL2R; IMD41; p55; TCGFR"
                     /note="major polyA site"
ORIGIN
        1 agtttcctgg ctgaacacgc cagcccaata cttaaagaga gcaactcctg actccgatag
       61 agactggatg gacccacaag ggtgacagcc caggcggacc gatcttccca tcccacatcc
      121 tccggcgcga tgccaaaaag aggctgacgg caactgggcc ttctgcagag aaagacctcc
      181 gcttcactgc cccggctggt cccaagggtc aggaagatgg attcatacct gctgatgtgg
      241 ggactgctca cgttcatcat ggtgcctggc tgccaggcag agctctgtga cgatgacccg
      301 ccagagatcc cacacgccac attcaaagcc atggcctaca aggaaggaac catgttgaac
      361 tgtgaatgca agagaggttt ccgcagaata aaaagcgggt cactctatat gctctgtaca
      421 ggaaactcta gccactcgtc ctgggacaac caatgtcaat gcacaagctc tgccactcgg
      481 aacacaacga aacaagtgac acctcaacct gaagaacaga aagaaaggaa aaccacagaa
      541 atgcaaagtc caatgcagcc agtggaccaa gcgagccttc caggtcactg cagggaacct
      601 ccaccatggg aaaatgaagc cacagagaga atttatcatt tcgtggtggg gcagatggtt
      661 tattatcagt gcgtccaggg atacagggct ctacacagag gtcctgctga gagcgtctgc
      721 aaaatgaccc acgggaagac aaggtggacc cagccccagc tcatatgcac aggtgaaatg
      781 gagaccagtc agtttccagg tgaagagaag cctcaggcaa gccccgaagg ccgtcctgag
      841 agtgagactt cctgcctcgt cacaacaaca gattttcaaa tacagacaga aatggctgca
      901 accatggaga cgtccatatt tacaacagag taccaggtag cagtggccgg ctgtgttttc
      961 ctgctgatca gcgtcctcct cctgagtggg ctcacctggc agcggagaca gaggaagagt
     1021 agaagaacaa tctagaaaac caaaagaaca agaatttctt ggtaagaagc cgggaacaga
     1081 caacagaagt catgaagccc aagtgaaatc aaaggtgcta aatggtcgcc caggagacat
     1141 ccgttgtgct tgcctgcgtt ttggaagctc tgaagtcaca tcacaggaca cggggcagtg
     1201 gcaaccttgt ctctatgcca gctcagtccc atcagagagc gagcgctacc cacttctaaa
     1261 tagcaatttc gccgttgaag aggaagggca aaaccactag aactctccat cttattttca
     1321 tgtatatgtg ttcattaaag catgaatggt atggaactct ctccacccta tatgtagtat
     1381 aaagaaaagt aggtttacat tcatctcatt ccaacttccc agttcaggag tcccaaggaa
     1441 agccccagca ctaacgtaaa tacacaacac acacactcta ccctatacaa ctggacattg
     1501 tctgcgtggt tcctttctca gccgcttctg actgctgatt ctcccgttca cgttgcctaa
     1561 taaacatcct tcaagaactc tgggctgcta cccagaaatc attttaccct tggctcaatc
     1621 ctctaagcta acccccttct actgagcctt cagtcttgaa tttctaaaaa acagaggcca
     1681 tggcagaata atctttgggt aacttcaaaa cggggcagcc aaacccatga ggcaatgtca
     1741 ggaacagaag gatgaatgag gtcccaggca gagaatcata cttagcaaag ttttacctgt
     1801 gcgttactaa ttggcctctt taagagttag tttctttggg attgctatga atgataccct
     1861 gaatttggcc tgcactaatt tgatgtttac aggtggacac acaaggtgca aatcaatgcg
     1921 tacgtttcct gagaagtgtc taaaaacacc aaaaagggat ccgtacattc aatgtttatg
     1981 caaggaagga aagaaagaag gaagtgaaga gggagaaggg atggaggtca cactggtaga
     2041 acgtaaccac ggaaaagagc gcatcaggcc tggcacggtg gctcaggcct ataaccccag
     2101 ctccctagga gaccaaggcg ggagcatctc ttgaggccag gagtttgaga ccagcctggg
     2161 cagcatagca agacacatcc ctacaaaaaa ttagaaattg gctggatgtg gtggcatacg
     2221 cctgtagtcc tagccactca ggaggctgag gcaggaggat tgcttgagcc caggagttcg
     2281 aggctgcagt cagtcatgat ggcaccactg cactccagcc tgggcaacag agcaagatcc
     2341 tgtctttaag gaaaaaaaga caagatgagc ataccagcag tccttgaaca ttatcaaaaa
     2401 gttcagcata ttagaatcac cgggaggcct tgttaaaaga gttcgctggg cccatcttca
     2461 gagtctctga gttgttggtc tggaatagag ccaaatgttt tgtgtgtcta acaattccca
     2521 ggtgctgttg ctgctgctac tattccagga acacactttg agaaccattg tgttattgct
     2581 ctgcacgccc acccactctc aactcccacg aaaaaaatca acttccagag ctaagatttc
     2641 ggtggaagtc ctggttccat atctggtgca agatctcccc tcacgaatca gttgagtcaa
     2701 cattctagct caacaacatc acacgattaa cattaacgaa aattattcat ttgggaaact
     2761 atcagccagt tttcacttct gaaggggcag gagagtgtta tgagaaatca cggcagtttt
     2821 cagcagggtc cagattcaga ttaaataact attttctgtc atttctgtga ccaaccacat
     2881 acaaacagac tcatctgtgc actctccccc tcccccttca ggtatatgtt ttctgagtaa
     2941 agttgaaaag aatctcagac cagaaaatat agatatatat ttaaatctta cttgagtaga
     3001 actgattacg acttttgggt gttgaggggt ctataagatc aaaacttttc catgataata
     3061 ctaagatgtt atcgaccatt tatctgtcct tctctcaaaa gtgtatggtg gaattttcca
     3121 gaagctatgt gatacgtgat gatgtcatca ctctgctgtt aacatataat aaatttattg
     3181 ctattgttta taaaagaata aatgatattt tttaaaaa
//
LOCUS       NM_000418               3624 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1,
            mRNA.
ACCESSION   NM_000418
VERSION     NM_000418.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3624)
  AUTHORS   Pandit D, Sharma P, Yadav H, Garg K, Chopra V and Sharma S.
  TITLE     Association of IL4RA polymorphism in predicting susceptibility
            toward chronic obstructive pulmonary disease
  JOURNAL   Pharmacogenomics 24 (11), 615-627 (2023)
   PUBMED   37551548
  REMARK    GeneRIF: Association of IL4RA polymorphism in predicting
            susceptibility toward chronic obstructive pulmonary disease.
REFERENCE   2  (bases 1 to 3624)
  AUTHORS   Li H, Cheng Z, Jiang B, Shao X and Xu M.
  TITLE     Prognosis value and positive association of Rab1A/IL4Ralpha aberrant
            expression in gastric cancer
  JOURNAL   Sci Rep 13 (1), 6964 (2023)
   PUBMED   37117331
  REMARK    GeneRIF: Prognosis value and positive association of Rab1A/IL4Ralpha
            aberrant expression in gastric cancer. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 3624)
  AUTHORS   Aranda CJ, Gonzalez-Kozlova E, Saunders SP, Fernandes-Braga W, Ota
            M, Narayanan S, He JS, Del Duca E, Swaroop B, Gnjatic S, Shattner G,
            Reibman J, Soter NA, Guttman-Yassky E and Curotto de Lafaille MA.
  TITLE     IgG memory B cells expressing IL4R and FCER2 are associated with
            atopic diseases
  JOURNAL   Allergy 78 (3), 752-766 (2023)
   PUBMED   36445014
  REMARK    GeneRIF: IgG memory B cells expressing IL4R and FCER2 are associated
            with atopic diseases.
REFERENCE   4  (bases 1 to 3624)
  AUTHORS   Chen X, Hu J, Li K, Liu S, Ye Q and Cao B.
  TITLE     Association of the IL-4R Q576R Polymorphism with Pediatric Asthma: a
            meta-analysis
  JOURNAL   Afr Health Sci 22 (3), 307-316 (2022)
   PUBMED   36910341
  REMARK    GeneRIF: Association of the IL-4R Q576R Polymorphism with Pediatric
            Asthma: a meta-analysis.
REFERENCE   5  (bases 1 to 3624)
  AUTHORS   Bergin AM, Balder B, Kishore S, Sward K, Hahn-Zoric M, Lowhagen O,
            Hanson LA and Padyukov L.
  TITLE     Common variations in the IL4R gene affect splicing and influence
            natural expression of the soluble isoform
  JOURNAL   Hum Mutat 27 (10), 990-998 (2006)
   PUBMED   16917945
  REMARK    GeneRIF: Results show sequence variations as a possible way of
            altering alternative splicing selection of IL4R in vivo.
REFERENCE   6  (bases 1 to 3624)
  AUTHORS   Puri RK and Aggarwal BB.
  TITLE     Human immunodeficiency virus type 1 tat gene up-regulates
            interleukin 4 receptors on a human B-lymphoblastoid cell line
  JOURNAL   Cancer Res 52 (13), 3787-3790 (1992)
   PUBMED   1617647
REFERENCE   7  (bases 1 to 3624)
  AUTHORS   Pritchard MA, Baker E, Whitmore SA, Sutherland GR, Idzerda RL, Park
            LS, Cosman D, Jenkins NA, Gilbert DJ, Copeland NG et al.
  TITLE     The interleukin-4 receptor gene (IL4R) maps to 16p11.2-16p12.1 in
            human and to the distal region of mouse chromosome 7
  JOURNAL   Genomics 10 (3), 801-806 (1991)
   PUBMED   1679753
REFERENCE   8  (bases 1 to 3624)
  AUTHORS   Donnelly RP, Fenton MJ, Finbloom DS and Gerrard TL.
  TITLE     Differential regulation of IL-1 production in human monocytes by
            IFN-gamma and IL-4
  JOURNAL   J Immunol 145 (2), 569-575 (1990)
   PUBMED   2114443
REFERENCE   9  (bases 1 to 3624)
  AUTHORS   Idzerda RL, March CJ, Mosley B, Lyman SD, Vanden Bos T, Gimpel SD,
            Din WS, Grabstein KH, Widmer MB, Park LS et al.
  TITLE     Human interleukin 4 receptor confers biological responsiveness and
            defines a novel receptor superfamily
  JOURNAL   J Exp Med 171 (3), 861-873 (1990)
   PUBMED   2307934
REFERENCE   10  (bases 1 to 3624)
  AUTHORS   Galizzi JP, Zuber CE, Harada N, Gorman DM, Djossou O, Kastelein R,
            Banchereau J, Howard M and Miyajima A.
  TITLE     Molecular cloning of a cDNA encoding the human interleukin 4
            receptor
  JOURNAL   Int Immunol 2 (7), 669-675 (1990)
   PUBMED   2278997
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X52425.1, AK223591.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000395762.7/ ENSP00000379111.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA492909.1, X52425.1 and
            BC110343.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000418.3.
            Summary: This gene encodes the alpha chain of the interleukin-4
            receptor, a type I transmembrane protein that can bind interleukin
            4 and interleukin 13 to regulate IgE production. The encoded
            protein also can bind interleukin 4 to promote differentiation of
            Th2 cells. A soluble form of the encoded protein can be produced by
            proteolysis of the membrane-bound protein, and this soluble form
            can inhibit IL4-mediated cell proliferation and IL5 upregulation by
            T-cells. Allelic variations in this gene have been associated with
            atopy, a condition that can manifest itself as allergic rhinitis,
            sinusitus, asthma, or eczema. Polymorphisms in this gene are also
            associated with resistance to human immunodeficiency virus type-1
            infection. Alternate splicing results in multiple transcript
            variants. [provided by RefSeq, Apr 2012].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3624
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.1"
     gene            1..3624
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="interleukin 4 receptor"
                     /db_xref="GeneID:3566"
                     /db_xref="HGNC:HGNC:6015"
                     /db_xref="MIM:147781"
     misc_feature    154..156
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="upstream in-frame stop codon"
     CDS             199..2676
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="isoform a precursor is encoded by transcript variant
                     1; interleukin-4 receptor alpha chain; interleukin-4
                     receptor subunit alpha; IL-4 receptor subunit alpha;
                     interleukin 13 receptor"
                     /codon_start=1
                     /product="interleukin-4 receptor subunit alpha isoform a
                     precursor"
                     /protein_id="NP_000409.1"
                     /db_xref="CCDS:CCDS10629.1"
                     /db_xref="GeneID:3566"
                     /db_xref="HGNC:HGNC:6015"
                     /db_xref="MIM:147781"
                     /translation="MGWLCSGLLFPVSCLVLLQVASSGNMKVLQEPTCVSDYMSISTCE
                     WKMNGPTNCSTELRLLYQLVFLLSEAHTCIPENNGGAGCVCHLLMDDVVSADNYTLDLW
                     AGQQLLWKGSFKPSEHVKPRAPGNLTVHTNVSDTLLLTWSNPYPPDNYLYNHLTYAVNI
                     WSENDPADFRIYNVTYLEPSLRIAASTLKSGISYRARVRAWAQCYNTTWSEWSPSTKWH
                     NSYREPFEQHLLLGVSVSCIVILAVCLLCYVSITKIKKEWWDQIPNPARSRLVAIIIQD
                     AQGSQWEKRSRGQEPAKCPHWKNCLTKLLPCFLEHNMKRDEDPHKAAKEMPFQGSGKSA
                     WCPVEISKTVLWPESISVVRCVELFEAPVECEEEEEVEEEKGSFCASPESSRDDFQEGR
                     EGIVARLTESLFLDLLGEENGGFCQQDMGESCLLPPSGSTSAHMPWDEFPSAGPKEAPP
                     WGKEQPLHLEPSPPASPTQSPDNLTCTETPLVIAGNPAYRSFSNSLSQSPCPRELGPDP
                     LLARHLEEVEPEMPCVPQLSEPTTVPQPEPETWEQILRRNVLQHGAAAAPVSAPTSGYQ
                     EFVHAVEQGGTQASAVVGLGPPGEAGYKAFSSLLASSAVSPEKCGFGASSGEEGYKPFQ
                     DLIPGCPGDPAPVPVPLFTFGLDREPPRSPQSSHLPSSSPEHLGLEPGEKVEDMPKPPL
                     PQEQATDPLVDSLGSGIVYSALTCHLCGHLKQCHGQEDGGQTPVMASPCCGCCCGDRSS
                     PPTTPLRAPDPSPGGVPLEASLCPASLAPSGISEKSKSSSSFHPAPGNAQSSSQTPKIV
                     NFVSVGPTYMRVS"
     sig_peptide     199..273
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="/evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (P24394.1)"
     mat_peptide     274..2673
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /product="Interleukin-4 receptor subunit alpha.
                     /id=PRO_0000010887"
                     /note="propagated from UniProtKB/Swiss-Prot (P24394.1)"
     misc_feature    310..312
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="Major IL4 binding determinant; propagated from
                     UniProtKB/Swiss-Prot (P24394.1); other site"
     misc_feature    355..357
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24394.1); glycosylation site"
     misc_feature    388..390
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="Minor IL4 binding determinant; propagated from
                     UniProtKB/Swiss-Prot (P24394.1); other site"
     misc_feature    394..396
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="Minor IL4 binding determinant; propagated from
                     UniProtKB/Swiss-Prot (P24394.1); other site"
     misc_feature    472..474
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="Minor IL4 binding determinant; propagated from
                     UniProtKB/Swiss-Prot (P24394.1); other site"
     misc_feature    478..480
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="Minor IL4 binding determinant; propagated from
                     UniProtKB/Swiss-Prot (P24394.1); other site"
     misc_feature    487..489
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="Major IL4 binding determinant; propagated from
                     UniProtKB/Swiss-Prot (P24394.1); other site"
     misc_feature    490..492
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24394.1); glycosylation site"
     misc_feature    580..582
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24394.1); glycosylation site"
     misc_feature    598..600
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24394.1); glycosylation site"
     misc_feature    652..654
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="Minor IL4 binding determinant; propagated from
                     UniProtKB/Swiss-Prot (P24394.1); other site"
     misc_feature    724..726
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24394.1); glycosylation site"
     misc_feature    820..822
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="Major IL4 binding determinant; propagated from
                     UniProtKB/Swiss-Prot (P24394.1); other site"
     misc_feature    823..825
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24394.1); glycosylation site"
     misc_feature    832..846
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="propagated from UniProtKB/Swiss-Prot (P24394.1);
                     Region: WSXWS motif"
     misc_feature    895..966
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="propagated from UniProtKB/Swiss-Prot (P24394.1);
                     transmembrane region"
     misc_feature    982..1008
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="propagated from UniProtKB/Swiss-Prot (P24394.1);
                     Region: Box 1 motif"
     misc_feature    1315..1389
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="propagated from UniProtKB/Swiss-Prot (P24394.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1495..1653
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="propagated from UniProtKB/Swiss-Prot (P24394.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1507..1869
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="propagated from UniProtKB/Swiss-Prot (P24394.1);
                     Region: Required for IRS1 activation and IL4-induced cell
                     growth"
     misc_feature    1687..1689
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:8124718; propagated from
                     UniProtKB/Swiss-Prot (P24394.1); phosphorylation site"
     misc_feature    1870..2169
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="propagated from UniProtKB/Swiss-Prot (P24394.1);
                     Region: Required for IL4-induced gene expression"
     misc_feature    1921..1923
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000305|PubMed:8624803; propagated from
                     UniProtKB/Swiss-Prot (P24394.1); phosphorylation site"
     misc_feature    2005..2007
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000305|PubMed:8624803; propagated from
                     UniProtKB/Swiss-Prot (P24394.1); phosphorylation site"
     misc_feature    2089..2091
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000305|PubMed:8624803; propagated from
                     UniProtKB/Swiss-Prot (P24394.1); phosphorylation site"
     misc_feature    2149..2307
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="propagated from UniProtKB/Swiss-Prot (P24394.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2329..2346
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="propagated from UniProtKB/Swiss-Prot (P24394.1);
                     Region: ITIM motif"
     misc_feature    2542..2625
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="propagated from UniProtKB/Swiss-Prot (P24394.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3602..3607
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="hexamer: AATAAA"
     polyA_site      3624
                     /gene="IL4R"
                     /gene_synonym="CD124; IL-4RA; IL4RA"
                     /note="major polyA site"
ORIGIN
        1 acttcccgct tgggcgcccg gacggcgaat ggagcagggg cgcgcagata attaaagatt
       61 tacacacagc tggaagaaat catagagaag ccgggcgtgg tggctcatgc ctataatccc
      121 agcacttttg gaggctgagg cgggcagatc acttgagatc aggagttcga gaccagcctg
      181 gtgccttggc atctcccaat ggggtggctt tgctctgggc tcctgttccc tgtgagctgc
      241 ctggtcctgc tgcaggtggc aagctctggg aacatgaagg tcttgcagga gcccacctgc
      301 gtctccgact acatgagcat ctctacttgc gagtggaaga tgaatggtcc caccaattgc
      361 agcaccgagc tccgcctgtt gtaccagctg gtttttctgc tctccgaagc ccacacgtgt
      421 atccctgaga acaacggagg cgcggggtgc gtgtgccacc tgctcatgga tgacgtggtc
      481 agtgcggata actatacact ggacctgtgg gctgggcagc agctgctgtg gaagggctcc
      541 ttcaagccca gcgagcatgt gaaacccagg gccccaggaa acctgacagt tcacaccaat
      601 gtctccgaca ctctgctgct gacctggagc aacccgtatc cccctgacaa ttacctgtat
      661 aatcatctca cctatgcagt caacatttgg agtgaaaacg acccggcaga tttcagaatc
      721 tataacgtga cctacctaga accctccctc cgcatcgcag ccagcaccct gaagtctggg
      781 atttcctaca gggcacgggt gagggcctgg gctcagtgct ataacaccac ctggagtgag
      841 tggagcccca gcaccaagtg gcacaactcc tacagggagc ccttcgagca gcacctcctg
      901 ctgggcgtca gcgtttcctg cattgtcatc ctggccgtct gcctgttgtg ctatgtcagc
      961 atcaccaaga ttaagaaaga atggtgggat cagattccca acccagcccg cagccgcctc
     1021 gtggctataa taatccagga tgctcagggg tcacagtggg agaagcggtc ccgaggccag
     1081 gaaccagcca agtgcccaca ctggaagaat tgtcttacca agctcttgcc ctgttttctg
     1141 gagcacaaca tgaaaaggga tgaagatcct cacaaggctg ccaaagagat gcctttccag
     1201 ggctctggaa aatcagcatg gtgcccagtg gagatcagca agacagtcct ctggccagag
     1261 agcatcagcg tggtgcgatg tgtggagttg tttgaggccc cggtggagtg tgaggaggag
     1321 gaggaggtag aggaagaaaa agggagcttc tgtgcatcgc ctgagagcag cagggatgac
     1381 ttccaggagg gaagggaggg cattgtggcc cggctaacag agagcctgtt cctggacctg
     1441 ctcggagagg agaatggggg cttttgccag caggacatgg gggagtcatg ccttcttcca
     1501 ccttcgggaa gtacgagtgc tcacatgccc tgggatgagt tcccaagtgc agggcccaag
     1561 gaggcacctc cctggggcaa ggagcagcct ctccacctgg agccaagtcc tcctgccagc
     1621 ccgacccaga gtccagacaa cctgacttgc acagagacgc ccctcgtcat cgcaggcaac
     1681 cctgcttacc gcagcttcag caactccctg agccagtcac cgtgtcccag agagctgggt
     1741 ccagacccac tgctggccag acacctggag gaagtagaac ccgagatgcc ctgtgtcccc
     1801 cagctctctg agccaaccac tgtgccccaa cctgagccag aaacctggga gcagatcctc
     1861 cgccgaaatg tcctccagca tggggcagct gcagcccccg tctcggcccc caccagtggc
     1921 tatcaggagt ttgtacatgc ggtggagcag ggtggcaccc aggccagtgc ggtggtgggc
     1981 ttgggtcccc caggagaggc tggttacaag gccttctcaa gcctgcttgc cagcagtgct
     2041 gtgtccccag agaaatgtgg gtttggggct agcagtgggg aagaggggta taagcctttc
     2101 caagacctca ttcctggctg ccctggggac cctgccccag tccctgtccc cttgttcacc
     2161 tttggactgg acagggagcc acctcgcagt ccgcagagct cacatctccc aagcagctcc
     2221 ccagagcacc tgggtctgga gccgggggaa aaggtagagg acatgccaaa gcccccactt
     2281 ccccaggagc aggccacaga cccccttgtg gacagcctgg gcagtggcat tgtctactca
     2341 gcccttacct gccacctgtg cggccacctg aaacagtgtc atggccagga ggatggtggc
     2401 cagacccctg tcatggccag tccttgctgt ggctgctgct gtggagacag gtcctcgccc
     2461 cctacaaccc ccctgagggc cccagacccc tctccaggtg gggttccact ggaggccagt
     2521 ctgtgtccgg cctccctggc accctcgggc atctcagaga agagtaaatc ctcatcatcc
     2581 ttccatcctg cccctggcaa tgctcagagc tcaagccaga cccccaaaat cgtgaacttt
     2641 gtctccgtgg gacccacata catgagggtc tcttaggtgc atgtcctctt gttgctgagt
     2701 ctgcagatga ggactagggc ttatccatgc ctgggaaatg ccacctcctg gaaggcagcc
     2761 aggctggcag atttccaaaa gacttgaaga accatggtat gaaggtgatt ggccccactg
     2821 acgttggcct aacactgggc tgcagagact ggaccccgcc cagcattggg ctgggctcgc
     2881 cacatcccat gagagtagag ggcactgggt cgccgtgccc cacggcaggc ccctgcagga
     2941 aaactgaggc ccttgggcac ctcgacttgt gaacgagttg ttggctgctc cctccacagc
     3001 ttctgcagca gactgtccct gttgtaactg cccaaggcat gttttgccca ccagatcatg
     3061 gcccacgtgg aggcccacct gcctctgtct cactgaacta gaagccgagc ctagaaacta
     3121 acacagccat caagggaatg acttgggcgg ccttgggaaa tcgatgagaa attgaacttc
     3181 agggagggtg gtcattgcct agaggtgctc attcatttaa cagagcttcc ttaggttgat
     3241 gctggaggca gaatcccggc tgtcaagggg tgttcagtta aggggagcaa cagaggacat
     3301 gaaaaattgc tatgactaaa gcagggacaa tttgctgcca aacacccatg cccagctgta
     3361 tggctggggg ctcctcgtat gcatggaacc cccagaataa atatgctcag ccaccctgtg
     3421 ggccgggcaa tccagacagc aggcataagg caccagttac cctgcatgtt ggcccagacc
     3481 tcaggtgcta gggaaggcgg gaaccttggg ttgagtaatg ctcgtctgtg tgttttagtt
     3541 tcatcacctg ttatctgtgt ttgctgagga gagtggaaca gaaggggtgg agttttgtat
     3601 aaataaagtt tctttgtctc ttta
//
LOCUS       NM_000419               3479 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens integrin subunit alpha 2b (ITGA2B), mRNA.
ACCESSION   NM_000419
VERSION     NM_000419.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3479)
  AUTHORS   Chandrasekaran FP, Vishal A, Arora U, Kumar S U, George C PD and
            Nelson EJR.
  TITLE     Molecular dynamics simulations corroborate recombinant expression
            studies carried out on three alphaIIb beta-propeller mutations
            reported in Indian Glanzmann thrombasthenia patients
  JOURNAL   J Cell Biochem 124 (7), 989-1001 (2023)
   PUBMED   37210732
  REMARK    GeneRIF: Molecular dynamics simulations corroborate recombinant
            expression studies carried out on three alphaIIb beta-propeller
            mutations reported in Indian Glanzmann thrombasthenia patients.
REFERENCE   2  (bases 1 to 3479)
  AUTHORS   Landsem A, Emblem A, Lau C, Christiansen D, Gerogianni A, Karlsen
            BO, Mollnes TE, Nilsson PH and Brekke OL.
  TITLE     Complement C3b contributes to Escherichia coli-induced platelet
            aggregation in human whole blood
  JOURNAL   Front Immunol 13, 1020712 (2022)
   PUBMED   36591264
  REMARK    GeneRIF: Complement C3b contributes to Escherichia coli-induced
            platelet aggregation in human whole blood. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 3479)
  AUTHORS   Zhao J, Zhou M, Wang Z, Wu L, Hu Z and Liang D.
  TITLE     Ectopic Expression of FVIII in HPCs and MSCs Derived from hiPSCs
            with Site-Specific Integration of ITGA2B Promoter-Driven BDDF8 Gene
            in Hemophilia A
  JOURNAL   Int J Mol Sci 23 (2), 623 (2022)
   PUBMED   35054807
  REMARK    GeneRIF: Ectopic Expression of FVIII in HPCs and MSCs Derived from
            hiPSCs with Site-Specific Integration of ITGA2B Promoter-Driven
            BDDF8 Gene in Hemophilia A. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3479)
  AUTHORS   Pijning AE, Blyth MT, Coote ML, Passam F, Chiu J and Hogg PJ.
  TITLE     An alternate covalent form of platelet alphaIIbbeta3 integrin that
            resides in focal adhesions and has altered function
  JOURNAL   Blood 138 (15), 1359-1372 (2021)
   PUBMED   34375384
  REMARK    GeneRIF: An alternate covalent form of platelet alphaIIbbeta3
            integrin that resides in focal adhesions and has altered function.
REFERENCE   5  (bases 1 to 3479)
  AUTHORS   Nurden AT, Pillois X and Wilcox DA.
  TITLE     Glanzmann thrombasthenia: state of the art and future directions
  JOURNAL   Semin Thromb Hemost 39 (6), 642-655 (2013)
   PUBMED   23929305
  REMARK    GeneRIF: Studies indicate that Glanzmann thrombasthenia (GT) is
            caused by quantitative or qualitative deficiencies of alphaIIbbeta3,
            an integrin coded by the ITGA2B and ITGB3 genes. Review article
REFERENCE   6  (bases 1 to 3479)
  AUTHORS   Bajt ML, Loftus JC, Gawaz MP and Ginsberg MH.
  TITLE     Characterization of a gain of function mutation of integrin alpha
            IIb beta 3 (platelet glycoprotein IIb-IIIa)
  JOURNAL   J Biol Chem 267 (31), 22211-22216 (1992)
   PUBMED   1429573
REFERENCE   7  (bases 1 to 3479)
  AUTHORS   Smyth SS, Hillery CA and Parise LV.
  TITLE     Fibrinogen binding to purified platelet glycoprotein IIb-IIIa
            (integrin alpha IIb beta 3) is modulated by lipids
  JOURNAL   J Biol Chem 267 (22), 15568-15577 (1992)
   PUBMED   1639797
REFERENCE   8  (bases 1 to 3479)
  AUTHORS   Lauweryns B, van den Oord JJ and Missotten L.
  TITLE     Localization of the cytoadhesin integrins in the human cornea. An
            immunohistochemical study using monoclonal antibodies
  JOURNAL   Graefes Arch Clin Exp Ophthalmol 230 (3), 264-268 (1992)
   PUBMED   1375923
REFERENCE   9  (bases 1 to 3479)
  AUTHORS   Burk CD, Newman PJ, Lyman S, Gill J, Coller BS and Poncz M.
  TITLE     A deletion in the gene for glycoprotein IIb associated with
            Glanzmann's thrombasthenia
  JOURNAL   J Clin Invest 87 (1), 270-276 (1991)
   PUBMED   1702098
REFERENCE   10  (bases 1 to 3479)
  AUTHORS   Poncz,M., Eisman,R., Heidenreich,R., Silver,S.M., Vilaire,G.,
            Surrey,S., Schwartz,E. and Bennett,J.S.
  TITLE     Structure of the platelet membrane glycoprotein IIb. Homology to the
            alpha subunits of the vitronectin and fibronectin membrane receptors
  JOURNAL   J Biol Chem 262 (18), 8476-8482 (1987)
   PUBMED   2439501
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC126442.1, J02764.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000262407.6/ ENSP00000262407.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007722.9, BM148153.1,
            J02764.1, BE409167.1, X06831.1 and CD175774.1.
            On May 24, 2019 this sequence version replaced NM_000419.4.
            Summary: This gene encodes a member of the integrin alpha chain
            family of proteins. The encoded preproprotein is proteolytically
            processed to generate light and heavy chains that associate through
            disulfide linkages to form a subunit of the alpha-IIb/beta-3
            integrin cell adhesion receptor. This receptor plays a crucial role
            in the blood coagulation system, by mediating platelet aggregation.
            Mutations in this gene are associated with platelet-type bleeding
            disorders, which are characterized by a failure of platelet
            aggregation, including Glanzmann thrombasthenia. [provided by
            RefSeq, Jan 2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3479
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..3479
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="integrin subunit alpha 2b"
                     /db_xref="GeneID:3674"
                     /db_xref="HGNC:HGNC:6138"
                     /db_xref="MIM:607759"
     misc_feature    24..26
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MSPGAIALCSARCSASYLGFQFDKKRLPVEESEGKEEELAHSCLGGCGRRK"
     CDS             177..3296
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="platelet fibrinogen receptor, alpha subunit;
                     platelet-specific antigen BAK; GPalpha IIb; platelet
                     membrane glycoprotein IIb; protein phosphatase 1,
                     regulatory subunit 93; alphaIIb protein; integrin, alpha 2b
                     (platelet glycoprotein IIb of IIb/IIIa complex, antigen
                     CD41)"
                     /codon_start=1
                     /product="integrin alpha-IIb preproprotein"
                     /protein_id="NP_000410.2"
                     /db_xref="CCDS:CCDS32665.1"
                     /db_xref="GeneID:3674"
                     /db_xref="HGNC:HGNC:6138"
                     /db_xref="MIM:607759"
                     /translation="MARALCPLQALWLLEWVLLLLGPCAAPPAWALNLDPVQLTFYAGP
                     NGSQFGFSLDFHKDSHGRVAIVVGAPRTLGPSQEETGGVFLCPWRAEGGQCPSLLFDLR
                     DETRNVGSQTLQTFKARQGLGASVVSWSDVIVACAPWQHWNVLEKTEEAEKTPVGSCFL
                     AQPESGRRAEYSPCRGNTLSRIYVENDFSWDKRYCEAGFSSVVTQAGELVLGAPGGYYF
                     LGLLAQAPVADIFSSYRPGILLWHVSSQSLSFDSSNPEYFDGYWGYSVAVGEFDGDLNT
                     TEYVVGAPTWSWTLGAVEILDSYYQRLHRLRGEQMASYFGHSVAVTDVNGDGRHDLLVG
                     APLYMESRADRKLAEVGRVYLFLQPRGPHALGAPSLLLTGTQLYGRFGSAIAPLGDLDR
                     DGYNDIAVAAPYGGPSGRGQVLVFLGQSEGLRSRPSQVLDSPFPTGSAFGFSLRGAVDI
                     DDNGYPDLIVGAYGANQVAVYRAQPVVKASVQLLVQDSLNPAVKSCVLPQTKTPVSCFN
                     IQMCVGATGHNIPQKLSLNAELQLDRQKPRQGRRVLLLGSQQAGTTLNLDLGGKHSPIC
                     HTTMAFLRDEADFRDKLSPIVLSLNVSLPPTEAGMAPAVVLHGDTHVQEQTRIVLDCGE
                     DDVCVPQLQLTASVTGSPLLVGADNVLELQMDAANEGEGAYEAELAVHLPQGAHYMRAL
                     SNVEGFERLICNQKKENETRVVLCELGNPMKKNAQIGIAMLVSVGNLEEAGESVSFQLQ
                     IRSKNSQNPNSKIVLLDVPVRAEAQVELRGNSFPASLVVAAEEGEREQNSLDSWGPKVE
                     HTYELHNNGPGTVNGLHLSIHLPGQSQPSDLLYILDIQPQGGLQCFPQPPVNPLKVDWG
                     LPIPSPSPIHPAHHKRDRRQIFLPEPEQPSRLQDPVLVSCDSAPCTVVQCDLQEMARGQ
                     RAMVTVLAFLWLPSLYQRPLDQFVLQSHAWFNVSSLPYAVPPLSLPRGEAQVWTQLLRA
                     LEERAIPIWWVLVGVLGGLLLLTILVLAMWKVGFFKRNRPPLEEDDEEGE"
     sig_peptide     177..269
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     270..3293
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /product="Integrin alpha-IIb. /id=PRO_0000016275"
                     /note="propagated from UniProtKB/Swiss-Prot (P08514.3)"
     mat_peptide     270..2837
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /product="Integrin alpha-IIb heavy chain.
                     /id=PRO_0000016276"
                     /note="propagated from UniProtKB/Swiss-Prot (P08514.3)"
     misc_feature    279..464
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="propagated from UniProtKB/Swiss-Prot (P08514.3);
                     Region: FG-GAP 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    312..314
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15378069,
                     ECO:0000269|PubMed:19111664, ECO:0000269|PubMed:2775232,
                     ECO:0007744|PDB:1TYE, ECO:0007744|PDB:3FCS,
                     ECO:0007744|PDB:3FCU; propagated from UniProtKB/Swiss-Prot
                     (P08514.3); glycosylation site"
     misc_feature    504..695
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="propagated from UniProtKB/Swiss-Prot (P08514.3);
                     Region: FG-GAP 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    735..890
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="propagated from UniProtKB/Swiss-Prot (P08514.3);
                     Region: FG-GAP 3.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    927..1091
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="propagated from UniProtKB/Swiss-Prot (P08514.3);
                     Region: FG-GAP 4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1014..1016
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19111664,
                     ECO:0000269|PubMed:2775232, ECO:0007744|PDB:3FCS;
                     propagated from UniProtKB/Swiss-Prot (P08514.3);
                     glycosylation site"
     misc_feature    1092..1289
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="propagated from UniProtKB/Swiss-Prot (P08514.3);
                     Region: FG-GAP 5.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1293..1472
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="propagated from UniProtKB/Swiss-Prot (P08514.3);
                     Region: FG-GAP 6.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1479..1664
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="propagated from UniProtKB/Swiss-Prot (P08514.3);
                     Region: FG-GAP 7.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1977..1979
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19111664, ECO:0000269|PubMed:2775232,
                     ECO:0007744|PDB:3FCS; propagated from UniProtKB/Swiss-Prot
                     (P08514.3); glycosylation site"
     misc_feature    2307..2309
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:2775232; propagated from
                     UniProtKB/Swiss-Prot (P08514.3); glycosylation site"
     misc_feature    2796..2798
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="O-linked (GalNAc...) serine, in variant S-874;
                     propagated from UniProtKB/Swiss-Prot (P08514.3);
                     glycosylation site"
     misc_feature    2808..2810
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:7688323; propagated from
                     UniProtKB/Swiss-Prot (P08514.3); glycosylation site"
     mat_peptide     2847..3293
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /product="Integrin alpha-IIb light chain, form 1.
                     /id=PRO_0000292348"
                     /note="propagated from UniProtKB/Swiss-Prot (P08514.3)"
     misc_feature    2847..2849
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="Pyrrolidone carboxylic acid, in light chain form 1.
                     /evidence=ECO:0000269|PubMed:2226834; propagated from
                     UniProtKB/Swiss-Prot (P08514.3);
                     pyrrolidone-carboxylic-acid site"
     mat_peptide     2883..3293
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /product="Integrin alpha-IIb light chain, form 2.
                     /id=PRO_0000016277"
                     /note="propagated from UniProtKB/Swiss-Prot (P08514.3)"
     misc_feature    3060..3062
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P08514.3); glycosylation site"
     misc_feature    3156..3233
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="propagated from UniProtKB/Swiss-Prot (P08514.3);
                     transmembrane region"
     misc_feature    3240..3254
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="propagated from UniProtKB/Swiss-Prot (P08514.3);
                     Region: GFFKR motif"
     regulatory      3459..3464
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="hexamer: AATAAA"
     polyA_site      3479
                     /gene="ITGA2B"
                     /gene_synonym="BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb;
                     GT; GT1; GTA; HPA3; PPP1R93"
                     /note="major polyA site"
ORIGIN
        1 acttcctggc aattctagcc accatgagtc caggggctat agccctttgc tctgcccgtt
       61 gctcagcaag ttacttgggg ttccagtttg ataagaaaag acttcctgtg gaggaatctg
      121 aagggaagga ggaggagctg gcccattcct gcctgggagg ttgtggaaga aggaagatgg
      181 ccagagcttt gtgtccactg caagccctct ggcttctgga gtgggtgctg ctgctcttgg
      241 gaccttgtgc tgcccctcca gcctgggcct tgaacctgga cccagtgcag ctcaccttct
      301 atgcaggccc caatggcagc cagtttggat tttcactgga cttccacaag gacagccatg
      361 ggagagtggc catcgtggtg ggcgccccgc ggaccctggg ccccagccag gaggagacgg
      421 gcggcgtgtt cctgtgcccc tggagggccg agggcggcca gtgcccctcg ctgctctttg
      481 acctccgtga tgagacccga aatgtaggct cccaaacttt acaaaccttc aaggcccgcc
      541 aaggactggg ggcgtcggtc gtcagctgga gcgacgtcat tgtggcctgc gccccctggc
      601 agcactggaa cgtcctagaa aagactgagg aggctgagaa gacgcccgta ggtagctgct
      661 ttttggctca gccagagagc ggccgccgcg ccgagtactc cccctgtcgc gggaacaccc
      721 tgagccgcat ttacgtggaa aatgatttta gctgggacaa gcgttactgt gaagcgggct
      781 tcagctccgt ggtcactcag gccggagagc tggtgcttgg ggctcctggc ggctattatt
      841 tcttaggtct cctggcccag gctccagttg cggatatttt ctcgagttac cgcccaggca
      901 tccttttgtg gcacgtgtcc tcccagagcc tctcctttga ctccagcaac ccagagtact
      961 tcgacggcta ctgggggtac tcggtggccg tgggcgagtt cgacggggat ctcaacacta
     1021 cagaatatgt cgtcggtgcc cccacttgga gctggaccct gggagcggtg gaaattttgg
     1081 attcctacta ccagaggctg catcggctgc gcggagagca gatggcgtcg tattttgggc
     1141 attcagtggc tgtcactgac gtcaacgggg atgggaggca tgatctgctg gtgggcgctc
     1201 cactgtatat ggagagccgg gcagaccgaa aactggccga agtggggcgt gtgtatttgt
     1261 tcctgcagcc gcgaggcccc cacgcgctgg gtgcccccag cctcctgctg actggcacac
     1321 agctctatgg gcgattcggc tctgccatcg cacccctggg cgacctcgac cgggatggct
     1381 acaatgacat tgcagtggct gccccctacg ggggtcccag tggccggggc caagtgctgg
     1441 tgttcctggg tcagagtgag gggctgaggt cacgtccctc ccaggtcctg gacagcccct
     1501 tccccacagg ctctgccttt ggcttctccc ttcgaggtgc cgtagacatc gatgacaacg
     1561 gatacccaga cctgatcgtg ggagcttacg gggccaacca ggtggctgtg tacagagctc
     1621 agccagtggt gaaggcctct gtccagctac tggtgcaaga ttcactgaat cctgctgtga
     1681 agagctgtgt cctacctcag accaagacac ccgtgagctg cttcaacatc cagatgtgtg
     1741 ttggagccac tgggcacaac attcctcaga agctatccct aaatgccgag ctgcagctgg
     1801 accggcagaa gccccgccag ggccggcggg tgctgctgct gggctctcaa caggcaggca
     1861 ccaccctgaa cctggatctg ggcggaaagc acagccccat ctgccacacc accatggcct
     1921 tccttcgaga tgaggcagac ttccgggaca agctgagccc cattgtgctc agcctcaatg
     1981 tgtccctacc gcccacggag gctggaatgg cccctgctgt cgtgctgcat ggagacaccc
     2041 atgtgcagga gcagacacga atcgtcctgg actgtgggga agatgacgta tgtgtgcccc
     2101 agcttcagct cactgccagc gtgacgggct ccccgctcct agttggggca gataatgtcc
     2161 tggagctgca gatggacgca gccaacgagg gcgagggggc ctatgaagca gagctggccg
     2221 tgcacctgcc ccagggcgcc cactacatgc gggccctaag caatgtcgag ggctttgaga
     2281 gactcatctg taatcagaag aaggagaatg agaccagggt ggtgctgtgt gagctgggca
     2341 accccatgaa gaagaacgcc cagataggaa tcgcgatgtt ggtgagcgtg gggaatctgg
     2401 aagaggctgg ggagtctgtg tccttccagc tgcagatacg gagcaagaac agccagaatc
     2461 caaacagcaa gattgtgctg ctggacgtgc cggtccgggc agaggcccaa gtggagctgc
     2521 gagggaactc ctttccagcc tccctggtgg tggcagcaga agaaggtgag agggagcaga
     2581 acagcttgga cagctgggga cccaaagtgg agcacaccta tgagctccac aacaatggcc
     2641 ctgggactgt gaatggtctt cacctcagca tccaccttcc gggacagtcc cagccctccg
     2701 acctgctcta catcctggat atacagcccc aggggggcct tcagtgcttc ccacagcctc
     2761 ctgtcaaccc tctcaaggtg gactgggggc tgcccatccc cagcccctcc cccattcacc
     2821 cggcccatca caagcgggat cgcagacaga tcttcctgcc agagcccgag cagccctcga
     2881 ggcttcagga tccagttctc gtaagctgcg actcggcgcc ctgtactgtg gtgcagtgtg
     2941 acctgcagga gatggcgcgc gggcagcggg ccatggtcac ggtgctggcc ttcctgtggc
     3001 tgcccagcct ctaccagagg cctctggatc agtttgtgct gcagtcgcac gcatggttca
     3061 acgtgtcctc cctcccctat gcggtgcccc cgctcagcct gccccgaggg gaagctcagg
     3121 tgtggacaca gctgctccgg gccttggagg agagggccat tccaatctgg tgggtgctgg
     3181 tgggtgtgct gggtggcctg ctgctgctca ccatcctggt cctggccatg tggaaggtcg
     3241 gcttcttcaa gcggaaccgg ccacccctgg aagaagatga tgaagagggg gagtgatggt
     3301 gcagcctaca ctattctagc aggagggttg ggcgtgctac ctgcaccgcc ccttctccaa
     3361 caagttgcct ccaagctttg ggttggagct gttccattgg gtcctcttgg tgtcgtttcc
     3421 ctcccaacag agctgggcta ccccccctcc tgctgcctaa taaagagact gagccctga
//
LOCUS       NM_000420               2494 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens Kell metallo-endopeptidase (Kell blood group) (KEL),
            mRNA.
ACCESSION   NM_000420
VERSION     NM_000420.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2494)
  AUTHORS   Yearout S, Smith A, Keller J and Keller MA.
  TITLE     Novel KEL allele associated with loss of Kpb identified in a white
            blood donor
  JOURNAL   Immunohematology 38 (2), 51-54 (2022)
   PUBMED   35852066
  REMARK    GeneRIF: Novel KEL allele associated with loss of Kp(b) identified
            in a white blood donor. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2494)
  AUTHORS   Liu W, Wu Z, Yu Y, Qiao C, Zhu H, Hong M, Zhu Y, Qian S, Chen S, Wu
            D, Li J and Jin H.
  TITLE     Functional Evaluation of KEL as an Oncogenic Gene in the Progression
            of Acute Erythroleukemia
  JOURNAL   Oxid Med Cell Longev 2022, 5885342 (2022)
   PUBMED   35140839
  REMARK    GeneRIF: Functional Evaluation of KEL as an Oncogenic Gene in the
            Progression of Acute Erythroleukemia. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 2494)
  AUTHORS   Albasri J, Alsuhaibani O, Almarry N, Ochoa-Garay G, Bensing KM,
            Biese D, Knier M and Denomme GA.
  TITLE     Novel KEL*02N allele in Saudi Arabia encoding a Kell null (K0)
            phenotype
  JOURNAL   Transfusion 61 (7), E49-E50 (2021)
   PUBMED   34137046
  REMARK    GeneRIF: Novel KEL*02N allele in Saudi Arabia encoding a Kell null
            (K0 ) phenotype.
REFERENCE   4  (bases 1 to 2494)
  AUTHORS   De Souza CP, Baleotti W, Moritz E, Sanches S, Lopes LB, Chiba AK,
            Donadi EA and Bordin JO.
  TITLE     HLA-DRB1 molecules and the presentation of anchor peptides from RhD,
            RhCE, and KEL proteins
  JOURNAL   Transfusion 61 (5), 1617-1630 (2021)
   PUBMED   33675036
  REMARK    GeneRIF: HLA-DRB1 molecules and the presentation of anchor peptides
            from RhD, RhCE, and KEL proteins.
REFERENCE   5  (bases 1 to 2494)
  AUTHORS   Lee S, Debnath AK and Redman CM.
  TITLE     Active amino acids of the Kell blood group protein and model of the
            ectodomain based on the structure of neutral endopeptidase 24.11
  JOURNAL   Blood 102 (8), 3028-3034 (2003)
   PUBMED   12842980
  REMARK    GeneRIF: x-ray analysis of Kell blood group protein
REFERENCE   6  (bases 1 to 2494)
  AUTHORS   Lee S, Wu X, Reid M and Redman C.
  TITLE     Molecular basis of the K:6,-7 [Js(a+b-)] phenotype in the Kell blood
            group system
  JOURNAL   Transfusion 35 (10), 822-825 (1995)
   PUBMED   7570911
REFERENCE   7  (bases 1 to 2494)
  AUTHORS   Khamlichi S, Bailly P, Blanchard D, Goossens D, Cartron JP and
            Bertrand O.
  TITLE     Purification and partial characterization of the erythrocyte Kx
            protein deficient in McLeod patients
  JOURNAL   Eur J Biochem 228 (3), 931-934 (1995)
   PUBMED   7737196
REFERENCE   8  (bases 1 to 2494)
  AUTHORS   Lee S, Zambas ED, Marsh WL and Redman CM.
  TITLE     The human Kell blood group gene maps to chromosome 7q33 and its
            expression is restricted to erythroid cells
  JOURNAL   Blood 81 (10), 2804-2809 (1993)
   PUBMED   7683930
REFERENCE   9  (bases 1 to 2494)
  AUTHORS   Lee S, Zambas ED, Marsh WL and Redman CM.
  TITLE     Molecular cloning and primary structure of Kell blood group protein
  JOURNAL   Proc Natl Acad Sci U S A 88 (14), 6353-6357 (1991)
   PUBMED   1712490
REFERENCE   10  (bases 1 to 2494)
  AUTHORS   Marsh WL and Redman CM.
  TITLE     Recent developments in the Kell blood group system
  JOURNAL   Transfus Med Rev 1 (1), 4-20 (1987)
   PUBMED   2980265
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC003135.1, SRR14038195.2778229.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000355265.7/ ENSP00000347409.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC003135.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000420.2.
            Summary: This gene encodes a type II transmembrane glycoprotein
            that is the highly polymorphic Kell blood group antigen. The Kell
            glycoprotein links via a single disulfide bond to the XK membrane
            protein that carries the Kx antigen. The encoded protein contains
            sequence and structural similarity to members of the neprilysin
            (M13) family of zinc endopeptidases. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2494
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..2494
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /note="Kell metallo-endopeptidase (Kell blood group)"
                     /db_xref="GeneID:3792"
                     /db_xref="HGNC:HGNC:6308"
                     /db_xref="MIM:613883"
     misc_feature    113..115
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /note="upstream in-frame stop codon"
     CDS             158..2356
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /EC_number="3.4.24.-"
                     /note="Kell glycoprotein; Kell blood group,
                     metallo-endopeptidase; bloodgroup KEL protein; Kell blood
                     group protein"
                     /codon_start=1
                     /product="kell blood group glycoprotein"
                     /protein_id="NP_000411.1"
                     /db_xref="CCDS:CCDS34766.1"
                     /db_xref="GeneID:3792"
                     /db_xref="HGNC:HGNC:6308"
                     /db_xref="MIM:613883"
                     /translation="MEGGDQSEEEPRERSQAGGMGTLWSQESTPEERLPVEGSRPWAVA
                     RRVLTAILILGLLLCFSVLLFYNFQNCGPRPCETSVCLDLRDHYLASGNTSVAPCTDFF
                     SFACGRAKETNNSFQELATKNKNRLRRILEVQNSWHPGSGEEKAFQFYNSCMDTLAIEA
                     AGTGPLRQVIEELGGWRISGKWTSLNFNRTLRLLMSQYGHFPFFRAYLGPHPASPHTPV
                     IQIDQPEFDVPLKQDQEQKIYAQIFREYLTYLNQLGTLLGGDPSKVQEHSSLSISITSR
                     LFQFLRPLEQRRAQGKLFQMVTIDQLKEMAPAIDWLSCLQATFTPMSLSPSQSLVVHDV
                     EYLKNMSQLVEEMLLKQRDFLQSHMILGLVVTLSPALDSQFQEARRKLSQKLRELTEQP
                     PMPARPRWMKCVEETGTFFEPTLAALFVREAFGPSTRSAAMKLFTAIRDALITRLRNLP
                     WMNEETQNMAQDKVAQLQVEMGASEWALKPELARQEYNDIQLGSSFLQSVLSCVRSLRA
                     RIVQSFLQPHPQHRWKVSPWDVNAYYSVSDHVVVFPAGLLQPPFFHPGYPRAVNFGAAG
                     SIMAHELLHIFYQLLLPGGCLACDNHALQEAHLCLKRHYAAFPLPSRTSFNDSLTFLEN
                     AADVGGLAIALQAYSKRLLRHHGETVLPSLDLSPQQIFFRSYAQVMCRKPSPQDSHDTH
                     SPPHLRVHGPLSSTPAFARYFRCARGALLNPSSRCQLW"
     misc_feature    158..268
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /note="propagated from UniProtKB/Swiss-Prot (P23276.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    176..178
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23276.2); phosphorylation site"
     misc_feature    299..358
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /note="propagated from UniProtKB/Swiss-Prot (P23276.2);
                     transmembrane region"
     misc_feature    437..439
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23276.2); glycosylation site"
     misc_feature    500..502
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23276.2); glycosylation site"
     misc_feature    728..730
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /note="N-linked (GlcNAc...) asparagine, in KEL2 antigen.
                     /evidence=ECO:0000269|PubMed:11336649; propagated from
                     UniProtKB/Swiss-Prot (P23276.2); glycosylation site"
     misc_feature    1190..1192
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23276.2); glycosylation site"
     misc_feature    2036..2038
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23276.2); glycosylation site"
     misc_feature    2207..2266
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /note="propagated from UniProtKB/Swiss-Prot (P23276.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2458..2463
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /note="hexamer: AATAAA"
     polyA_site      2494
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /note="major polyA site"
ORIGIN
        1 agtcctgtgt gtctggggac aaggcgaaag agcagcagaa gtgccccttc tccaggatca
       61 aggaactggg gcggggggtg tttcctggac cccagtcctc cgaatcagct cctagagtgg
      121 aaccaggaag gattctggag ccacagaaga tagacagatg gaaggtgggg accaaagtga
      181 ggaagagccg agggaacgca gccaggcagg tggaatggga actctctgga gccaagagag
      241 cactccagaa gagaggctgc ccgtggaagg gagcaggcca tgggcagtgg ccaggcgggt
      301 gctgacagct atcctgattt tgggcctgct cctttgtttt tctgtgcttt tgttctacaa
      361 cttccagaac tgtggccctc gcccctgtga gacatctgtg tgtttggatc tccgggatca
      421 ttacctggcc tctgggaaca caagtgtggc cccctgcacc gacttcttca gctttgcctg
      481 tggaagggcc aaagagacca ataattcttt tcaggagctt gccacaaaga acaaaaaccg
      541 acttcggaga atactggagg tccagaattc ctggcaccca ggctctgggg aggagaaagc
      601 cttccagttc tacaactcct gcatggatac acttgccatt gaagctgcag ggactggtcc
      661 cctcagacaa gttattgagg agcttggagg ctggcgcatc tctggtaaat ggacttcctt
      721 aaactttaac cgaacgctga gacttctgat gagtcagtat ggccatttcc ctttcttcag
      781 agcctaccta ggacctcatc ctgcctctcc acacacacca gtcatccaga tagaccagcc
      841 agagtttgat gttcccctca agcaagatca agaacagaag atctatgccc agatctttcg
      901 ggaatacctg acttacctga atcagctggg aaccttgctg ggaggagacc caagcaaggt
      961 gcaagaacac tcttccttgt caatctccat cacttcacgg ctgttccagt ttctgaggcc
     1021 cctggagcag cggcgggcac agggcaagct cttccagatg gtcactatcg accagctcaa
     1081 ggaaatggcc cccgccatcg actggttgtc ctgcttgcaa gcgacattca caccgatgtc
     1141 cctgagccct tctcagtccc tcgtggtcca tgacgtggaa tatttgaaaa acatgtcaca
     1201 actggtggag gagatgctgc taaagcagag ggactttctg cagagccaca tgatcttagg
     1261 gctggtggtg accctttctc cagccctgga cagtcaattc caggaggcac gcagaaagct
     1321 cagccagaaa ctgcgggaac tgacagagca accacccatg cctgcccgcc cacgatggat
     1381 gaagtgcgtg gaggagacag gcacgttctt cgagcccacg ctggcggctt tgtttgttcg
     1441 tgaggccttt ggcccgagca cccgaagtgc tgccatgaaa ttattcactg cgatccggga
     1501 tgccctcatc actcgcctca gaaaccttcc ctggatgaat gaggagaccc agaacatggc
     1561 ccaggacaag gttgctcaac tgcaggtgga gatgggggct tcagaatggg ccctgaagcc
     1621 agagctggcc cgacaagaat acaacgatat acagcttgga tcgagcttcc tgcagtctgt
     1681 cctgagctgt gtccggtccc tccgagctag aattgtccag agcttcttgc agcctcaccc
     1741 ccaacacagg tggaaggtgt ccccttggga cgtcaatgct tactattcgg tatctgacca
     1801 tgtggtagtc tttccagctg gactcctcca acccccattc ttccaccctg gctatcccag
     1861 agccgtgaac tttggcgctg ctggcagcat catggcccac gagctgttgc acatcttcta
     1921 ccagctctta ctgcctgggg gctgcctcgc ctgtgacaac catgccctcc aggaagctca
     1981 cctgtgcctg aagcgccatt atgctgcctt tccattacct agcagaacct ccttcaatga
     2041 ctccctcaca ttcttagaga atgctgcaga cgttgggggg ctagccatcg cgctgcaggc
     2101 atacagcaag aggctgttac ggcaccatgg ggagactgtc ctgcccagcc tggacctcag
     2161 cccccagcag atcttctttc gaagctatgc ccaggtgatg tgtaggaagc ccagccccca
     2221 ggactctcac gacactcaca gccctccaca cctccgagtc cacgggcccc tcagcagcac
     2281 cccagccttt gccaggtatt tccgctgtgc acgtggtgct ctcttgaacc cctccagccg
     2341 ctgccagctc tggtaacttg gttaccaaag atgccacagc acagaaatat cgaccaacac
     2401 ctccctggtc acatccatgg aatcagagca agatttcctt tctgcttctg ttccaaaaat
     2461 aaaagctggc acttggcttc cgcttgtctc ttaa
//
LOCUS       NM_000421               2143 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens keratin 10 (KRT10), transcript variant 1, mRNA.
ACCESSION   NM_000421
VERSION     NM_000421.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2143)
  AUTHORS   Huang X, Yin G, Zhou B, Cai Y, Hu J, Huang J, Chen Z, Liu Q and Feng
            X.
  TITLE     KRT10 plays an important role in the release of viral genome from
            endosomes during H9N2 subtype AIV replication in HeLa cells
  JOURNAL   Vet Microbiol 284, 109824 (2023)
   PUBMED   37406407
  REMARK    GeneRIF: KRT10 plays an important role in the release of viral
            genome from endosomes during H9N2 subtype AIV replication in HeLa
            cells.
REFERENCE   2  (bases 1 to 2143)
  AUTHORS   Huang TL and Chou CC.
  TITLE     Effect of mutations on the hydrophobic interactions of the
            hierarchical molecular structure and mechanical properties of
            epithelial keratin 1/10
  JOURNAL   Int J Biol Macromol 212, 442-450 (2022)
   PUBMED   35623459
  REMARK    GeneRIF: Effect of mutations on the hydrophobic interactions of the
            hierarchical molecular structure and mechanical properties of
            epithelial keratin 1/10.
REFERENCE   3  (bases 1 to 2143)
  AUTHORS   Caporali S, Didona B, Paradisi M, Mauriello A, Campione E, Falconi
            M, Iacovelli F, Minieri M, Pieri M, Bernardini S and Terrinoni A.
  TITLE     Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates
            Structural Alteration of the K1/K10 Dimer, Producing a Monolateral
            Palmar Epidermolytic Nevus
  JOURNAL   Int J Mol Sci 22 (13), 6901 (2021)
   PUBMED   34199056
  REMARK    GeneRIF: Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain
            Generates Structural Alteration of the K1/K10 Dimer, Producing a
            Monolateral Palmar Epidermolytic Nevus. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 2143)
  AUTHORS   Kim J and Villadsen R.
  TITLE     The Expression Pattern of Epidermal Differentiation Marker Keratin
            10 in the Normal Human Breast and Breast Cancer Cells
  JOURNAL   J Histochem Cytochem 68 (8), 561-570 (2020)
   PUBMED   32618487
  REMARK    GeneRIF: The Expression Pattern of Epidermal Differentiation Marker
            Keratin 10 in the Normal Human Breast and Breast Cancer Cells.
REFERENCE   5  (bases 1 to 2143)
  AUTHORS   Takeichi T, Suga Y, Mizuno T, Okuno Y, Ichikawa D, Kono M, Lee JYW,
            McGrath JA and Akiyama M.
  TITLE     Recurrent KRT10 Variant in Ichthyosis with Confetti
  JOURNAL   Acta Derm Venereol 100 (14), adv00209 (2020)
   PUBMED   32556352
  REMARK    GeneRIF: Recurrent KRT10 Variant in Ichthyosis with Confetti.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2143)
  AUTHORS   Rasmussen HH, van Damme J, Puype M, Gesser B, Celis JE and
            Vandekerckhove J.
  TITLE     Microsequences of 145 proteins recorded in the two-dimensional gel
            protein database of normal human epidermal keratinocytes
  JOURNAL   Electrophoresis 13 (12), 960-969 (1992)
   PUBMED   1286667
REFERENCE   7  (bases 1 to 2143)
  AUTHORS   Cheng J, Syder AJ, Yu QC, Letai A, Paller AS and Fuchs E.
  TITLE     The genetic basis of epidermolytic hyperkeratosis: a disorder of
            differentiation-specific epidermal keratin genes
  JOURNAL   Cell 70 (5), 811-819 (1992)
   PUBMED   1381287
REFERENCE   8  (bases 1 to 2143)
  AUTHORS   Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA,
            Gagne TA, Huber M, Frenk E, Hohl D and Roop DR.
  TITLE     Mutations in the rod domains of keratins 1 and 10 in epidermolytic
            hyperkeratosis
  JOURNAL   Science 257 (5073), 1128-1130 (1992)
   PUBMED   1380725
REFERENCE   9  (bases 1 to 2143)
  AUTHORS   Tkachenko AV, Buchman VL, Bliskovsky VV, Shvets YuP and Kisselev LL.
  TITLE     Exons I and VII of the gene (Ker10) encoding human keratin 10
            undergo structural rearrangements within repeats
  JOURNAL   Gene 116 (2), 245-251 (1992)
   PUBMED   1378806
REFERENCE   10  (bases 1 to 2143)
  AUTHORS   Korge BP, Gan SQ, McBride OW, Mischke D and Steinert PM.
  TITLE     Extensive size polymorphism of the human keratin 10 chain resides in
            the C-terminal V2 subdomain due to variable numbers and sizes of
            glycine loops
  JOURNAL   Proc Natl Acad Sci U S A 89 (3), 910-914 (1992)
   PUBMED   1371013
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC034697.1, M77663.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145893,
            SAMEA2147596 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000269576.6/ ENSP00000269576.5
            RefSeq Select criteria      :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090283.7.
            This sequence is a reference standard in the RefSeqGene project.
            On May 21, 2020 this sequence version replaced NM_000421.4.
            Summary: This gene encodes a member of the type I (acidic)
            cytokeratin family, which belongs to the superfamily of
            intermediate filament (IF) proteins. Keratins are heteropolymeric
            structural proteins which form the intermediate filament. These
            filaments, along with actin microfilaments and microtubules,
            compose the cytoskeleton of epithelial cells. Mutations in this
            gene are associated with epidermolytic hyperkeratosis. This gene is
            located within a cluster of keratin family members on chromosome
            17q21. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2143
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..2143
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="keratin 10"
                     /db_xref="GeneID:3858"
                     /db_xref="HGNC:HGNC:6413"
                     /db_xref="MIM:148080"
     CDS             30..1784
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cytokeratin 10; keratin, type I cytoskeletal 10; CK-10;
                     keratin 10, type I"
                     /codon_start=1
                     /product="keratin, type I cytoskeletal 10 isoform 1"
                     /protein_id="NP_000412.4"
                     /db_xref="CCDS:CCDS11377.1"
                     /db_xref="GeneID:3858"
                     /db_xref="HGNC:HGNC:6413"
                     /db_xref="MIM:148080"
                     /translation="MSVRYSSSKHYSSSRSGGGGGGGGCGGGGGVSSLRISSSKGSLGG
                     GFSSGGFSGGSFSRGSSGGGCFGGSSGGYGGLGGFGGGSFRGSYGSSSFGGSYGGIFGG
                     GSFGGGSFGGGSFGGGGFGGGGFGGGFGGGFGGDGGLLSGNEKVTMQNLNDRLASYLDK
                     VRALEESNYELEGKIKEWYEKHGNSHQGEPRDYSKYYKTIDDLKNQILNLTTDNANILL
                     QIDNARLAADDFRLKYENEVALRQSVEADINGLRRVLDELTLTKADLEMQIESLTEELA
                     YLKKNHEEEMKDLRNVSTGDVNVEMNAAPGVDLTQLLNNMRSQYEQLAEQNRKDAEAWF
                     NEKSKELTTEIDNNIEQISSYKSEITELRRNVQALEIELQSQLALKQSLEASLAETEGR
                     YCVQLSQIQAQISALEEQLQQIRAETECQNTEYQQLLDIKIRLENEIQTYRSLLEGEGS
                     SGGGGRGGGSFGGGYGGGSSGGGSSGGGHGGGHGGSSGGGYGGGSSGGGSSGGGYGGGS
                     SSGGHGGSSSGGYGGGSSGGGGGGYGGGSSGGGSSSGGGYGGGSSSGGHKSSSSGSVGE
                     SSSKGPRY"
     misc_feature    30..464
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="propagated from UniProtKB/Swiss-Prot (P13645.6);
                     Region: Head"
     misc_feature    30..101
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="propagated from UniProtKB/Swiss-Prot (P13645.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    69..71
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P13645.6); phosphorylation site"
     misc_feature    75..77
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P13645.6); phosphorylation site"
     misc_feature    153..155
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P13645.6); phosphorylation site"
     misc_feature    186..188
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P13645.6); phosphorylation site"
     misc_feature    195..197
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P13645.6); phosphorylation site"
     misc_feature    465..572
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="propagated from UniProtKB/Swiss-Prot (P13645.6);
                     Region: Coil 1A"
     misc_feature    537..539
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P13645.6); phosphorylation site"
     misc_feature    573..635
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="propagated from UniProtKB/Swiss-Prot (P13645.6);
                     Region: Linker 1"
     misc_feature    636..911
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="propagated from UniProtKB/Swiss-Prot (P13645.6);
                     Region: Coil 1B"
     misc_feature    912..980
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="propagated from UniProtKB/Swiss-Prot (P13645.6);
                     Region: Linker 12"
     misc_feature    981..1397
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="propagated from UniProtKB/Swiss-Prot (P13645.6);
                     Region: Coil 2"
     misc_feature    1386..1781
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="propagated from UniProtKB/Swiss-Prot (P13645.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1398..1781
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="propagated from UniProtKB/Swiss-Prot (P13645.6);
                     Region: Tail"
     regulatory      2117..2122
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="hexamer: AATAAA"
     polyA_site      2143
                     /gene="KRT10"
                     /gene_synonym="BCIE; BIE; CK10; EHK; EHK2; IHL; K10; KPP"
                     /note="major polyA site"
ORIGIN
        1 aggcactccc tgggctaaac agcatcacca tgtctgttcg atacagctca agcaagcact
       61 actcttcctc ccgcagtgga ggaggaggag gaggaggagg atgtggagga ggaggaggag
      121 tgtcatccct aagaatttct agcagcaaag gctcccttgg tggaggattt agctcagggg
      181 ggttcagtgg tggctctttt agccgtggga gctctggtgg gggctgcttt gggggctcat
      241 caggtggcta tggaggatta ggaggttttg gtggaggtag ctttcgtgga agctatggaa
      301 gtagcagctt tggtgggagt tatggaggca tctttggagg gggcagtttc ggaggtggca
      361 gctttggtgg gggcagcttt ggtggaggcg gctttggtgg aggcggcttt ggaggaggct
      421 ttggtggtgg atttggagga gatggtggcc ttctctctgg aaatgaaaaa gtaaccatgc
      481 agaatctgaa tgaccgcctg gcttcctact tggacaaagt tcgggctctg gaagaatcaa
      541 actatgagct ggaaggcaaa atcaaggagt ggtatgaaaa gcatggcaac tcacatcagg
      601 gggagcctcg tgactacagc aaatactaca aaaccatcga tgaccttaaa aatcagattc
      661 tcaacctaac aactgataat gccaacatcc tgcttcagat cgacaatgcc aggctggcag
      721 ctgatgactt caggctgaag tatgagaatg aggtagctct gcgccagagc gtggaggctg
      781 acatcaacgg cctgcgtagg gtgctggatg agctgaccct gaccaaggct gacctggaga
      841 tgcaaattga gagcctgact gaagagctgg cctatctgaa gaagaaccac gaggaggaaa
      901 tgaaagacct tcgaaatgtg tccactggtg atgtgaatgt ggaaatgaat gctgccccgg
      961 gtgttgatct gactcaactt ctgaataaca tgagaagcca atatgaacaa cttgctgaac
     1021 aaaaccgcaa agatgctgaa gcctggttca atgaaaagag caaggaactg actacagaaa
     1081 ttgataataa cattgaacag atatccagct ataaatctga gattactgaa ttgagacgta
     1141 atgtacaagc tctggagata gaactacagt cccaactggc cttgaaacaa tccctggaag
     1201 cctccttggc agaaacagaa ggtcgctact gtgtgcagct ctcacagatt caggcccaga
     1261 tatccgctct ggaagaacag ttgcaacaga ttcgagctga aaccgagtgc cagaatactg
     1321 aataccaaca actcctggat attaagatcc gactggagaa tgaaattcaa acctaccgca
     1381 gcctgctaga aggagaggga agttccggag gcggcggacg cggcggcgga agtttcggcg
     1441 gcggctacgg cggcggaagc tccggcggcg gaagctccgg cggcggccac ggcggcggcc
     1501 acggcggcag ttccggcggc ggctacggag gcggaagctc cggcggcgga agctccggcg
     1561 gcggctacgg gggcggaagc tccagcggcg gccacggcgg cagttccagc ggcggctacg
     1621 gtggtggcag ttccggcggc ggcggcggcg gctacggggg cggcagctcc ggcggcggca
     1681 gcagctccgg cggcggatac ggcggcggca gctccagcgg aggccacaag tcctcctctt
     1741 ccgggtccgt gggcgagtct tcatctaagg gaccaagata ctaacaaaac cagagtaatc
     1801 aagacaatta ttgaagaggt ggcgcccgac ggtagagttc tttcatctat ggttgaatca
     1861 gaaaccaaga aacactacta ttaaactgca tcaagaggaa agagtctccc ttcacacaga
     1921 ccattattta cagatgcatg gaaaacaaag tctccaagaa aacacttctg tcttgatggt
     1981 ctatggaaat agaccttgaa aataaggtgt ctacaaggtg ttttgtggtt tctgtatttc
     2041 ttcttttcac tttaccagaa agtgttcttt aatggaaaga aaaacaactt tctgttctca
     2101 tttactaatg aatttcaata aactttctta ctgatgcaaa cta
//
LOCUS       NM_000422               1517 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens keratin 17 (KRT17), mRNA.
ACCESSION   NM_000422
VERSION     NM_000422.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1517)
  AUTHORS   Wu L, Ding W, Wang X, Li X and Yang J.
  TITLE     Interference KRT17 reverses doxorubicin resistance in
            triple-negative breast cancer cells by Wnt/beta-catenin signaling
            pathway
  JOURNAL   Genes Genomics 45 (10), 1329-1338 (2023)
   PUBMED   37634232
  REMARK    GeneRIF: Interference KRT17 reverses doxorubicin resistance in
            triple-negative breast cancer cells by Wnt/beta-catenin signaling
            pathway.
REFERENCE   2  (bases 1 to 1517)
  AUTHORS   Meng F and Dai L.
  TITLE     Transcription factors TP63 facilitates malignant progression of
            thyroid cancer by upregulating KRT17 expression and inducing
            epithelial-mesenchymal transition
  JOURNAL   Growth Factors 41 (2), 71-81 (2023)
   PUBMED   36919456
  REMARK    GeneRIF: Transcription factors TP63 facilitates malignant
            progression of thyroid cancer by upregulating KRT17 expression and
            inducing epithelial-mesenchymal transition.
REFERENCE   3  (bases 1 to 1517)
  AUTHORS   Liang W, Liu H, Zeng Z, Liang Z, Xie H, Li W, Xiong L, Liu Z, Chen
            M, Jie H, Zheng X, Huang L and Kang L.
  TITLE     KRT17 Promotes T-lymphocyte Infiltration Through the YTHDF2-CXCL10
            Axis in Colorectal Cancer
  JOURNAL   Cancer Immunol Res 11 (7), 875-894 (2023)
   PUBMED   37129929
  REMARK    GeneRIF: KRT17 Promotes T-lymphocyte Infiltration Through the
            YTHDF2-CXCL10 Axis in Colorectal Cancer.
REFERENCE   4  (bases 1 to 1517)
  AUTHORS   Luo Y, Pang B, Hao J, Li Q, Qiao P, Zhang C, Bai Y, Xiao C, Chen J,
            Zhi D, Liu Y, Dang E, Wang G and Li B.
  TITLE     Keratin 17 covalently binds to alpha-enolase and exacerbates
            proliferation of keratinocytes in psoriasis
  JOURNAL   Int J Biol Sci 19 (11), 3395-3411 (2023)
   PUBMED   37497003
  REMARK    GeneRIF: Keratin 17 covalently binds to alpha-enolase and
            exacerbates proliferation of keratinocytes in psoriasis. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 1517)
  AUTHORS   Chaudet KM, Stagner AM and Nazarian RM.
  TITLE     Use of Cytokeratin 17 in the Differentiation Between Desmoplastic
            Trichilemmoma and Cutaneous Basal Cell Carcinoma
  JOURNAL   Am J Dermatopathol 44 (12), 886-890 (2022)
   PUBMED   36197047
  REMARK    GeneRIF: Use of Cytokeratin 17 in the Differentiation Between
            Desmoplastic Trichilemmoma and Cutaneous Basal Cell Carcinoma.
REFERENCE   6  (bases 1 to 1517)
  AUTHORS   Smith,F.J.D., Hansen,C.D., Hull,P.R., Kaspar,R.L., McLean,W.H.I.,
            O'Toole,E. and Sprecher,E.
  TITLE     Pachyonychia Congenita
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301457
REFERENCE   7  (bases 1 to 1517)
  AUTHORS   Troyanovsky SM, Leube RE and Franke WW.
  TITLE     Characterization of the human gene encoding cytokeratin 17 and its
            expression pattern
  JOURNAL   Eur J Cell Biol 59 (1), 127-137 (1992)
   PUBMED   1281771
REFERENCE   8  (bases 1 to 1517)
  AUTHORS   Flohr T, Buwitt U, Bonnekoh B, Decker T and Bottger EC.
  TITLE     Interferon-gamma regulates expression of a novel keratin class I
            gene
  JOURNAL   Eur J Immunol 22 (4), 975-979 (1992)
   PUBMED   1372562
REFERENCE   9  (bases 1 to 1517)
  AUTHORS   Trask DK, Band V, Zajchowski DA, Yaswen P, Suh T and Sager R.
  TITLE     Keratins as markers that distinguish normal and tumor-derived
            mammary epithelial cells
  JOURNAL   Proc Natl Acad Sci U S A 87 (6), 2319-2323 (1990)
   PUBMED   1690428
REFERENCE   10  (bases 1 to 1517)
  AUTHORS   Kartasova,T., Cornelissen,B.J., Belt,P. and van de Putte,P.
  TITLE     Effects of UV, 4-NQO and TPA on gene expression in cultured human
            epidermal keratinocytes
  JOURNAL   Nucleic Acids Res 15 (15), 5945-5962 (1987)
   PUBMED   2442723
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.58324.1,
            SRR5189658.113620.1 [ECO:0000332]
            RNAseq introns :: mixed/partial sample support SAMEA1965299,
            SAMEA1968189 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000311208.13/ ENSP00000308452.8
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP226061.1 and BC011901.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000422.2.
            Summary: This gene encodes the type I intermediate filament chain
            keratin 17, expressed in nail bed, hair follicle, sebaceous glands,
            and other epidermal appendages. Mutations in this gene lead to
            Jackson-Lawler type pachyonychia congenita and steatocystoma
            multiplex. [provided by RefSeq, Aug 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1517
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..1517
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="keratin 17"
                     /db_xref="GeneID:3872"
                     /db_xref="HGNC:HGNC:6427"
                     /db_xref="MIM:148069"
     CDS             67..1365
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="cytokeratin-17; keratin 17, type I"
                     /codon_start=1
                     /product="keratin, type I cytoskeletal 17"
                     /protein_id="NP_000413.1"
                     /db_xref="CCDS:CCDS11402.1"
                     /db_xref="GeneID:3872"
                     /db_xref="HGNC:HGNC:6427"
                     /db_xref="MIM:148069"
                     /translation="MTTSIRQFTSSSSIKGSSGLGGGSSRTSCRLSGGLGAGSCRLGSA
                     GGLGSTLGGSSYSSCYSFGSGGGYGSSFGGVDGLLAGGEKATMQNLNDRLASYLDKVRA
                     LEEANTELEVKIRDWYQRQAPGPARDYSQYYRTIEELQNKILTATVDNANILLQIDNAR
                     LAADDFRTKFETEQALRLSVEADINGLRRVLDELTLARADLEMQIENLKEELAYLKKNH
                     EEEMNALRGQVGGEINVEMDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEDWFFSKTEE
                     LNREVATNSELVQSGKSEISELRRTMQALEIELQSQLSMKASLEGNLAETENRYCVQLS
                     QIQGLIGSVEEQLAQLRCEMEQQNQEYKILLDVKTRLEQEIATYRRLLEGEDAHLTQYK
                     KEPVTTRQVRTIVEEVQDGKVISSREQVHQTTR"
     misc_feature    67..315
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04695.2);
                     Region: Head"
     misc_feature    67..138
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04695.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    100..102
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q04695.2); phosphorylation site"
     misc_feature    103..105
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q04695.2); phosphorylation site"
     misc_feature    139..141
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61414; propagated from
                     UniProtKB/Swiss-Prot (Q04695.2); phosphorylation site"
     misc_feature    160..162
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q04695.2); phosphorylation site"
     misc_feature    181..183
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q04695.2); phosphorylation site"
     misc_feature    196..198
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="Phosphoserine, by RPS6KA1.
                     /evidence=ECO:0000269|PubMed:22006917; propagated from
                     UniProtKB/Swiss-Prot (Q04695.2); phosphorylation site"
     misc_feature    316..426
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04695.2);
                     Region: Coil 1A"
     misc_feature    370..414
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04695.2);
                     Region: Peptide epitope S1, induces T-cell and keratinocyte
                     proliferation and IFN-gamma production"
     misc_feature    394..396
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q04695.2); phosphorylation site"
     misc_feature    427..480
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04695.2);
                     Region: Linker 1"
     misc_feature    481..756
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04695.2);
                     Region: Coil 1B"
     misc_feature    523..567
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04695.2);
                     Region: Peptide epitope S2, induces T-cell proliferation
                     and IFN-gamma production"
     misc_feature    757..816
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04695.2);
                     Region: Linker 12"
     misc_feature    817..1242
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04695.2);
                     Region: Coil 2"
     misc_feature    901..903
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q6IFV3; propagated from
                     UniProtKB/Swiss-Prot (Q04695.2); phosphorylation site"
     misc_feature    1033..1035
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q04695.2); phosphorylation site"
     misc_feature    1060..1104
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04695.2);
                     Region: Peptide epitope S4, induces T-cell and keratinocyte
                     proliferation and IFN-gamma production"
     misc_feature    1243..1362
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q04695.2);
                     Region: Tail"
     regulatory      1495..1500
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="hexamer: AATAAA"
     polyA_site      1517
                     /gene="KRT17"
                     /gene_synonym="39.1; CK-17; K17; PC; PC2; PCHC1"
                     /note="major polyA site"
ORIGIN
        1 acacaacttg gggcccctct cctctccagc ccttctcctg tgtgcctgcc tcctgccgcc
       61 gccaccatga ccacctccat ccgccagttc acctcctcca gctccatcaa gggctcctcc
      121 ggcctggggg gcggctcgtc ccgcacctcc tgccggctgt ctggcggcct gggtgccggc
      181 tcctgcaggc tgggatctgc tggcggcctg ggcagcaccc tcgggggtag cagctactcc
      241 agctgctaca gctttggctc tggtggtggc tatggcagca gctttggggg tgttgatggg
      301 ctgctggctg gaggtgagaa ggccaccatg cagaacctca atgaccgcct ggcctcctac
      361 ctggacaagg tgcgtgccct ggaggaggcc aacactgagc tggaggtgaa gatccgtgac
      421 tggtaccaga ggcaggcccc ggggcccgcc cgtgactaca gccagtacta caggacaatt
      481 gaggagctgc agaacaagat cctcacagcc accgtggaca atgccaacat cctgctacag
      541 attgacaatg cccgtctggc tgctgatgac ttccgcacca agtttgagac agagcaggcc
      601 ctgcgcctga gtgtggaggc cgacatcaat ggcctgcgca gggtgctgga tgagctgacc
      661 ctggccagag ccgacctgga gatgcagatt gagaacctca aggaggagct ggcctacctg
      721 aagaagaacc acgaggagga gatgaacgcc ctgcgaggcc aggtgggtgg tgagatcaat
      781 gtggagatgg acgctgcccc aggcgtggac ctgagccgca tcctcaacga gatgcgtgac
      841 cagtatgaga agatggcaga gaagaaccgc aaggatgccg aggattggtt cttcagcaag
      901 acagaggaac tgaaccgcga ggtggccacc aacagtgagc tggtgcagag tggcaagagt
      961 gagatctcgg agctccggcg caccatgcag gccttggaga tagagctgca gtcccagctc
     1021 agcatgaaag catccctgga gggcaacctg gcggagacag agaaccgcta ctgcgtgcag
     1081 ctgtcccaga tccaggggct gattggcagc gtggaggagc agctggccca gcttcgctgc
     1141 gagatggagc agcagaacca ggaatacaaa atcctgctgg atgtgaagac gcggctggag
     1201 caggagattg ccacctaccg ccgcctgctg gagggagagg atgcccacct gactcagtac
     1261 aagaaagaac cggtgaccac ccgtcaggtg cgtaccattg tggaagaggt ccaggatggc
     1321 aaggtcatct cctcccgcga gcaggtccac cagaccaccc gctgaggact cagctacccc
     1381 ggccggccac ccaggaggca gggaggcagc cgccccatct gccccacagt ctccggcctc
     1441 tccagcctca gccccctgct tcagtccctt ccccatgctt ccttgcctga tgacaataaa
     1501 gcttgttgac tcagcta
//
LOCUS       NM_000423               2450 bp    mRNA    linear   PRI 26-MAR-2023
DEFINITION  Homo sapiens keratin 2 (KRT2), mRNA.
ACCESSION   NM_000423
VERSION     NM_000423.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2450)
  AUTHORS   Frommherz L, Komlosi K, Hewel C, Kopp J, Dewenter M, Zimmer A,
            Bartsch O, Linke M, Technau-Hafsi K, Gerber S, Fischer J and Has C.
  TITLE     Acral lamellar ichthyosis with amino acid substitution in the
            C-terminus of keratin 2
  JOURNAL   J Eur Acad Dermatol Venereol 37 (4), 817-822 (2023)
   PUBMED   36331357
  REMARK    GeneRIF: Acral lamellar ichthyosis with amino acid substitution in
            the C-terminus of keratin 2.
REFERENCE   2  (bases 1 to 2450)
  AUTHORS   Diociaiuti A, Castiglia D, Corbeddu M, Rotunno R, Rossi S,
            Pisaneschi E, Cesario C, Condorelli AG, Zambruno G and El Hachem M.
  TITLE     First Case of KRT2 Epidermolytic Nevus and Novel Clinical and
            Genetic Findings in 26 Italian Patients with Keratinopathic
            Ichthyoses
  JOURNAL   Int J Mol Sci 21 (20), 7707 (2020)
   PUBMED   33081034
  REMARK    GeneRIF: First Case of KRT2 Epidermolytic Nevus and Novel Clinical
            and Genetic Findings in 26 Italian Patients with Keratinopathic
            Ichthyoses. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2450)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2450)
  AUTHORS   Aldehlawi H, Usman S, Lalli A, Ahmad F, Williams G, Teh MT and
            Waseem A.
  TITLE     Serum lipids, retinoic acid and phenol red differentially regulate
            expression of keratins K1, K10 and K2 in cultured keratinocytes
  JOURNAL   Sci Rep 10 (1), 4829 (2020)
   PUBMED   32179842
  REMARK    GeneRIF: Serum lipids, retinoic acid and phenol red differentially
            regulate expression of keratins K1, K10 and K2 in cultured
            keratinocytes. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2450)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2450)
  AUTHORS   Steinert PM and Marekov LN.
  TITLE     The proteins elafin, filaggrin, keratin intermediate filaments,
            loricrin, and small proline-rich proteins 1 and 2 are isodipeptide
            cross-linked components of the human epidermal cornified cell
            envelope
  JOURNAL   J Biol Chem 270 (30), 17702-17711 (1995)
   PUBMED   7543090
REFERENCE   7  (bases 1 to 2450)
  AUTHORS   Kremer H, Zeeuwen P, McLean WH, Mariman EC, Lane EB, van de Kerkhof
            CM, Ropers HH and Steijlen PM.
  TITLE     Ichthyosis bullosa of Siemens is caused by mutations in the keratin
            2e gene
  JOURNAL   J Invest Dermatol 103 (3), 286-289 (1994)
   PUBMED   8077693
REFERENCE   8  (bases 1 to 2450)
  AUTHORS   McLean WH, Morley SM, Lane EB, Eady RA, Griffiths WA, Paige DG,
            Harper JI, Higgins C and Leigh IM.
  TITLE     Ichthyosis bullosa of Siemens--a disease involving keratin 2e
  JOURNAL   J Invest Dermatol 103 (3), 277-281 (1994)
   PUBMED   7521371
REFERENCE   9  (bases 1 to 2450)
  AUTHORS   Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR,
            Saeki H, Ishibashi Y and Roop DR.
  TITLE     Mutations in the rod domain of keratin 2e in patients with
            ichthyosis bullosa of Siemens
  JOURNAL   Nat Genet 7 (4), 485-490 (1994)
   PUBMED   7524919
REFERENCE   10  (bases 1 to 2450)
  AUTHORS   Collin C, Moll R, Kubicka S, Ouhayoun JP and Franke WW.
  TITLE     Characterization of human cytokeratin 2, an epidermal cytoskeletal
            protein synthesized late during differentiation
  JOURNAL   Exp Cell Res 202 (1), 132-141 (1992)
   PUBMED   1380918
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M99061.1, BC096294.4 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145893,
            SAMEA2147596 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000309680.4/ ENSP00000310861.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC055716.24, M99061.1, BC096294.4 and AL598277.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000423.2.
            Summary: The protein encoded by this gene is a member of the
            keratin gene family. The type II cytokeratins consist of basic or
            neutral proteins which are arranged in pairs of heterotypic keratin
            chains coexpressed during differentiation of simple and stratified
            epithelial tissues. This type II cytokeratin is expressed largely
            in the upper spinous layer of epidermal keratinocytes and mutations
            in this gene have been associated with bullous congenital
            ichthyosiform erythroderma. The type II cytokeratins are clustered
            in a region of chromosome 12q12-q13. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2450
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2450
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="keratin 2"
                     /db_xref="GeneID:3849"
                     /db_xref="HGNC:HGNC:6439"
                     /db_xref="MIM:600194"
     misc_feature    43..45
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="upstream in-frame stop codon"
     CDS             70..1989
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="keratin-2e; cytokeratin-2e; keratin-2 epidermis;
                     type-II keratin Kb2; epithelial keratin-2e; keratin 2, type
                     II"
                     /codon_start=1
                     /product="keratin, type II cytoskeletal 2 epidermal"
                     /protein_id="NP_000414.2"
                     /db_xref="CCDS:CCDS8835.1"
                     /db_xref="GeneID:3849"
                     /db_xref="HGNC:HGNC:6439"
                     /db_xref="MIM:600194"
                     /translation="MSCQISCKSRGRGGGGGGFRGFSSGSAVVSGGSRRSTSSFSCLSR
                     HGGGGGGFGGGGFGSRSLVGLGGTKSISISVAGGGGGFGAAGGFGGRGGGFGGGSSFGG
                     GSGFSGGGFGGGGFGGGRFGGFGGPGGVGGLGGPGGFGPGGYPGGIHEVSVNQSLLQPL
                     NVKVDPEIQNVKAQEREQIKTLNNKFASFIDKVRFLEQQNQVLQTKWELLQQMNVGTRP
                     INLEPIFQGYIDSLKRYLDGLTAERTSQNSELNNMQDLVEDYKKKYEDEINKRTAAEND
                     FVTLKKDVDNAYMIKVELQSKVDLLNQEIEFLKVLYDAEISQIHQSVTDTNVILSMDNS
                     RNLDLDSIIAEVKAQYEEIAQRSKEEAEALYHSKYEELQVTVGRHGDSLKEIKIEISEL
                     NRVIQRLQGEIAHVKKQCKNVQDAIADAEQRGEHALKDARNKLNDLEEALQQAKEDLAR
                     LLRDYQELMNVKLALDVEIATYRKLLEGEECRMSGDLSSNVTVSVTSSTISSNVASKAA
                     FGGSGGRGSSSGGGYSSGSSSYGSGGRQSGSRGGSGGGGSISGGGYGSGGGSGGRYGSG
                     GGSKGGSISGGGYGSGGGKHSSGGGSRGGSSSGGGYGSGGGGSSSVKGSSGEAFGSSVT
                     FSFR"
     misc_feature    70..600
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="propagated from UniProtKB/Swiss-Prot (P35908.2);
                     Region: Head"
     misc_feature    103..105
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P04104; propagated from
                     UniProtKB/Swiss-Prot (P35908.2); methylation site"
     misc_feature    127..129
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q3TTY5; propagated from
                     UniProtKB/Swiss-Prot (P35908.2); methylation site"
     misc_feature    136..138
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04104; propagated from
                     UniProtKB/Swiss-Prot (P35908.2); phosphorylation site"
     misc_feature    145..147
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04104; propagated from
                     UniProtKB/Swiss-Prot (P35908.2); phosphorylation site"
     misc_feature    253..255
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (P35908.2); phosphorylation site"
     misc_feature    601..708
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="propagated from UniProtKB/Swiss-Prot (P35908.2);
                     Region: Coil 1A"
     misc_feature    709..765
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="propagated from UniProtKB/Swiss-Prot (P35908.2);
                     Region: Linker 1"
     misc_feature    766..1041
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="propagated from UniProtKB/Swiss-Prot (P35908.2);
                     Region: Coil 1B"
     misc_feature    1042..1113
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="propagated from UniProtKB/Swiss-Prot (P35908.2);
                     Region: Linker 12"
     misc_feature    1114..1530
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="propagated from UniProtKB/Swiss-Prot (P35908.2);
                     Region: Coil 2"
     misc_feature    1354..1356
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="Stutter; propagated from UniProtKB/Swiss-Prot
                     (P35908.2); other site"
     misc_feature    1531..1986
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="propagated from UniProtKB/Swiss-Prot (P35908.2);
                     Region: Tail"
     misc_feature    1609..1746
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="propagated from UniProtKB/Swiss-Prot (P35908.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1789..1986
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="propagated from UniProtKB/Swiss-Prot (P35908.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2429..2434
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="hexamer: AATAAA"
     polyA_site      2450
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="major polyA site"
ORIGIN
        1 agcacagttg agtctccagc cttgactctt ctcaagagcc tgtgactttc ctccctggac
       61 aaaggcatca tgagttgtca gatctcttgc aaatctcgag gaagaggagg aggtggagga
      121 ggattccggg gcttcagcag cggctcagct gtggtgtctg gtggaagccg gagatcaact
      181 tccagcttct cctgcttgag ccgccatggt ggtggtggcg ggggcttcgg tggaggcggc
      241 tttggcagtc ggagtcttgt tggccttgga gggaccaaga gcatctccat tagtgtggct
      301 ggaggaggtg gtggctttgg cgccgctggt ggatttggtg gcagaggagg tggttttgga
      361 ggcggcagca gctttggagg tggcagcggc ttcagtggtg gtggtttcgg tggaggcggc
      421 tttggtggag gccgctttgg aggttttggg ggccctggtg gtgttggagg tttagggggt
      481 cctggtggct ttgggcctgg aggataccct ggtggcatcc acgaagtctc tgtcaaccag
      541 agcctcctgc agcctctcaa cgtgaaagtt gacccagaga tccagaatgt gaaggcccaa
      601 gagcgtgagc agatcaaaac tctcaacaac aaatttgcct ccttcattga caaggtgcgg
      661 ttcttggagc agcagaacca ggtgttacag accaaatggg agctgctaca acaaatgaat
      721 gttggcaccc gccccatcaa cctggagccc atcttccagg ggtatatcga cagcctcaag
      781 agatatctgg atgggctcac tgcagaaaga acatcacaga attcagagct gaataacatg
      841 caggatcttg tggaggatta taagaagaag tatgaggatg aaatcaataa gcgcacagct
      901 gctgagaatg attttgtgac gcttaaaaag gacgtggaca atgcctacat gataaaggtg
      961 gagttgcagt ccaaggtgga cctgctgaac caggaaattg agtttctgaa agttctctat
     1021 gatgcggaga tatcccagat acatcagagt gtcactgaca ccaacgtcat cctctccatg
     1081 gacaacagcc gcaacctgga cttggatagc atcatcgccg aggtcaaggc ccagtatgag
     1141 gagatcgccc agaggagcaa ggaagaagcg gaggccctgt accacagcaa gtatgaggag
     1201 ctccaggtga ctgtcgggag acatggagac agcctgaaag agatcaagat agagatcagc
     1261 gagctgaacc gcgtgatcca gaggctgcag ggggagatcg cacatgtgaa gaagcagtgt
     1321 aagaatgtgc aagatgccat cgcagatgcc gagcagcgtg gggagcatgc cctcaaggat
     1381 gccaggaaca agttgaatga cctggaggag gccctgcagc aggccaagga ggacttggcg
     1441 cggctgctgc gtgactacca ggagctgatg aacgtgaagc tggccctaga tgtggagatc
     1501 gccacctacc gcaaactgct ggagggcgag gagtgcagga tgtctggaga cctcagcagc
     1561 aatgtgactg tgtctgtgac aagcagcacc atttcatcaa atgtggcatc caaggctgcc
     1621 tttggaggtt ctggaggtag agggtccagt tccggaggag gatacagctc tggaagcagc
     1681 agttatggct ctggaggccg acagtctggc tccagaggcg gtagtggagg aggaggttct
     1741 atctctggag gaggatatgg ctctggcggt ggttctggag gaagatacgg atctggtggt
     1801 ggctctaagg gagggtccat ctctggagga ggatatggct ctggaggtgg aaaacacagc
     1861 tctggaggtg gctctagagg aggctccagc tctggaggag gatatggctc tggaggtggg
     1921 ggttctagct ctgtaaaggg tagctcaggt gaagcttttg gttccagcgt gaccttctct
     1981 tttagataaa gatgagcccc caccaccacc gactctccca acccagactc tcccactcca
     2041 gaatgtagaa gcctgtctct gtacctctaa ctggcagcaa gttaaatttt tgtcatttat
     2101 ctctgatggc actttgaggg aaaagaatgt ccacatacag tttttgaaag atcttctctc
     2161 caaaccagtt agttagagcc agtgacgcct ctgtgttctg gggcggaatc tgtgctgtct
     2221 aggtttgtgc ttctagccat gcccattccc gcccccacca tgcctctttg cattgcccat
     2281 tttccagatg tgtattctgt tgaggaccca ggcccatcca gggatttcat ctctaagcct
     2341 ggcagtgctg gggggaaatg tgtttctgtg tatatagctc ctcttgtcca ctctgctttc
     2401 ggaagtgctg tggtctgggg gtcttcataa taaacctcat ttgcaattca
//
LOCUS       NM_000424               2238 bp    mRNA    linear   PRI 18-JUL-2023
DEFINITION  Homo sapiens keratin 5 (KRT5), mRNA.
ACCESSION   NM_000424
VERSION     NM_000424.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2238)
  AUTHORS   Thomsen C, Blok-Husum L, Georgsen JB, Steiniche T and Vyberg M.
  TITLE     Keratin 5 in Lung Cancer Specimens: Comparison of Four Antibody
            Clones and KRT5 mRNA-ISH
  JOURNAL   Appl Immunohistochem Mol Morphol 31 (6), 347-353 (2023)
   PUBMED   37212698
  REMARK    GeneRIF: Keratin 5 in Lung Cancer Specimens: Comparison of Four
            Antibody Clones and KRT5 mRNA-ISH.
REFERENCE   2  (bases 1 to 2238)
  AUTHORS   Jia W, Zhang Y, Wang X, Luo L, Sun H, Jiang Y, Wang J, Mao Q, Guo Y,
            Kong L, Mo R and Li C.
  TITLE     KRT5 mutation regulate melanin metabolism through notch signalling
            pathway between keratinocytes and melanocytes
  JOURNAL   Exp Dermatol 32 (6), 752-765 (2023)
   PUBMED   36809573
  REMARK    GeneRIF: KRT5 mutation regulate melanin metabolism through notch
            signalling pathway between keratinocytes and melanocytes.
REFERENCE   3  (bases 1 to 2238)
  AUTHORS   Terada K, Yoshizawa A, Sumiyoshi S, Rokutan-Kurata M, Nakajima N,
            Hamaji M, Sonobe M, Menju T, Date H and Haga H.
  TITLE     Clinicopathological features of cytokeratin 5-positive pulmonary
            adenocarcinoma
  JOURNAL   Histopathology 82 (3), 439-453 (2023)
   PUBMED   36239561
  REMARK    GeneRIF: Clinicopathological features of cytokeratin 5-positive
            pulmonary adenocarcinoma.
REFERENCE   4  (bases 1 to 2238)
  AUTHORS   Yamamoto Y, Takahara T, Ohashi A, Taniguchi N, Ito T, Sassa N and
            Tsuzuki T.
  TITLE     Cytokeratin 5/6 expression in pT1 bladder cancer predicts
            intravesical recurrence in patients treated with bacillus
            Calmette-Guerin instillation
  JOURNAL   Pathology 54 (6), 700-706 (2022)
   PUBMED   35527047
  REMARK    GeneRIF: Cytokeratin 5/6 expression in pT1 bladder cancer predicts
            intravesical recurrence in patients treated with bacillus
            Calmette-Guerin instillation.
REFERENCE   5  (bases 1 to 2238)
  AUTHORS   McGinn O, Riley D, Finlay-Schultz J, Paul KV, Kabos P and Sartorius
            CA.
  TITLE     Cytokeratins 5 and 17 Maintain an Aggressive Epithelial State in
            Basal-Like Breast Cancer
  JOURNAL   Mol Cancer Res 20 (9), 1443-1455 (2022)
   PUBMED   35639459
  REMARK    GeneRIF: Cytokeratins 5 and 17 Maintain an Aggressive Epithelial
            State in Basal-Like Breast Cancer.
REFERENCE   6  (bases 1 to 2238)
  AUTHORS   So,J.Y. and Teng,J.
  TITLE     Epidermolysis Bullosa Simplex
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301543
REFERENCE   7  (bases 1 to 2238)
  AUTHORS   Ohtsuki M, Tomic-Canic M, Freedberg IM and Blumenberg M.
  TITLE     Regulation of epidermal keratin expression by retinoic acid and
            thyroid hormone
  JOURNAL   J Dermatol 19 (11), 774-780 (1992)
   PUBMED   1284070
REFERENCE   8  (bases 1 to 2238)
  AUTHORS   Tavakkol A, Griffiths CE, Keane KM, Palmer RD and Voorhees JJ.
  TITLE     Cellular localization of mRNA for cellular retinoic acid-binding
            protein II and nuclear retinoic acid receptor-gamma 1 in retinoic
            acid-treated human skin
  JOURNAL   J Invest Dermatol 99 (2), 146-150 (1992)
   PUBMED   1378478
REFERENCE   9  (bases 1 to 2238)
  AUTHORS   Lane EB, Rugg EL, Navsaria H, Leigh IM, Heagerty AH, Ishida-Yamamoto
            A and Eady RA.
  TITLE     A mutation in the conserved helix termination peptide of keratin 5
            in hereditary skin blistering
  JOURNAL   Nature 356 (6366), 244-246 (1992)
   PUBMED   1372711
REFERENCE   10  (bases 1 to 2238)
  AUTHORS   Rosenberg M, Fuchs E, Le Beau MM, Eddy RL and Shows TB.
  TITLE     Three epidermal and one simple epithelial type II keratin genes map
            to human chromosome 12
  JOURNAL   Cytogenet Cell Genet 57 (1), 33-38 (1991)
   PUBMED   1713141
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC024292.1, M21389.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145893,
            SAMEA2147596 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000252242.9/ ENSP00000252242.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Michael Rogers. The reference sequence was
            derived from M21389.1 and BC071906.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000424.3.
            Summary: The protein encoded by this gene is a member of the
            keratin gene family. The type II cytokeratins consist of basic or
            neutral proteins which are arranged in pairs of heterotypic keratin
            chains coexpressed during differentiation of simple and stratified
            epithelial tissues. This type II cytokeratin is specifically
            expressed in the basal layer of the epidermis with family member
            KRT14. Mutations in these genes have been associated with a complex
            of diseases termed epidermolysis bullosa simplex. The type II
            cytokeratins are clustered in a region of chromosome 12q12-q13.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2238
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2238
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="keratin 5"
                     /db_xref="GeneID:3852"
                     /db_xref="HGNC:HGNC:6442"
                     /db_xref="MIM:148040"
     misc_feature    1
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="major transcriptional start site"
     misc_feature    60..62
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="upstream in-frame stop codon"
     CDS             99..1871
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="keratin 5 (epidermolysis bullosa simplex,
                     Dowling-Meara/Kobner/Weber-Cockayne types); keratin 5, type
                     II; epidermolysis bullosa simplex 2
                     Dowling-Meara/Kobner/Weber-Cockayne types; 58 kda
                     cytokeratin; CK-5; cytokeratin-5; type-II keratin Kb5"
                     /codon_start=1
                     /product="keratin, type II cytoskeletal 5"
                     /protein_id="NP_000415.2"
                     /db_xref="CCDS:CCDS8830.1"
                     /db_xref="GeneID:3852"
                     /db_xref="HGNC:HGNC:6442"
                     /db_xref="MIM:148040"
                     /translation="MSRQSSVSFRSGGSRSFSTASAITPSVSRTSFTSVSRSGGGGGGG
                     FGRVSLAGACGVGGYGSRSLYNLGGSKRISISTSGGSFRNRFGAGAGGGYGFGGGAGSG
                     FGFGGGAGGGFGLGGGAGFGGGFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPSIQR
                     VRTEEREQIKTLNNKFASFIDKVRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQY
                     INNLRRQLDSIVGERGRLDSELRNMQDLVEDFKNKYEDEINKRTTAENEFVMLKKDVDA
                     AYMNKVELEAKVDALMDEINFMKMFFDAELSQMQTHVSDTSVVLSMDNNRNLDLDSIIA
                     EVKAQYEEIANRSRTEAESWYQTKYEELQQTAGRHGDDLRNTKHEISEMNRMIQRLRAE
                     IDNVKKQCANLQNAIADAEQRGELALKDARNKLAELEEALQKAKQDMARLLREYQELMN
                     TKLALDVEIATYRKLLEGEECRLSGEGVGPVNISVVTSSVSSGYGSGSGYGGGLGGGLG
                     GGLGGGLAGGSSGSYYSSSSGGVGLGGGLSVGGSGFSASSGRGLGVGFGSGGGSSSSVK
                     FVSTTSSSRKSFKS"
     misc_feature    99..599
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="propagated from UniProtKB/Swiss-Prot (P13647.3);
                     Region: Head"
     misc_feature    99..158
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="propagated from UniProtKB/Swiss-Prot (P13647.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    111..113
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6P6Q2; propagated from
                     UniProtKB/Swiss-Prot (P13647.3); phosphorylation site"
     misc_feature    120..122
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6P6Q2; propagated from
                     UniProtKB/Swiss-Prot (P13647.3); phosphorylation site"
     misc_feature    144..146
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q922U2; propagated from
                     UniProtKB/Swiss-Prot (P13647.3); phosphorylation site"
     misc_feature    159..161
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q922U2; propagated from
                     UniProtKB/Swiss-Prot (P13647.3); phosphorylation site"
     misc_feature    168..170
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="Phosphothreonine, by CDK1.
                     /evidence=ECO:0000250|UniProtKB:Q922U2; propagated from
                     UniProtKB/Swiss-Prot (P13647.3); phosphorylation site"
     misc_feature    174..176
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q922U2; propagated from
                     UniProtKB/Swiss-Prot (P13647.3); phosphorylation site"
     misc_feature    204..206
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6P6Q2; propagated from
                     UniProtKB/Swiss-Prot (P13647.3); phosphorylation site"
     misc_feature    246..248
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q922U2; propagated from
                     UniProtKB/Swiss-Prot (P13647.3); phosphorylation site"
     misc_feature    288..290
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q922U2; propagated from
                     UniProtKB/Swiss-Prot (P13647.3); phosphorylation site"
     misc_feature    309..311
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6P6Q2; propagated from
                     UniProtKB/Swiss-Prot (P13647.3); phosphorylation site"
     misc_feature    321..323
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6P6Q2; propagated from
                     UniProtKB/Swiss-Prot (P13647.3); phosphorylation site"
     misc_feature    342..344
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6P6Q2; propagated from
                     UniProtKB/Swiss-Prot (P13647.3); phosphorylation site"
     misc_feature    549..551
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="Phosphothreonine, by CDK1.
                     /evidence=ECO:0000250|UniProtKB:Q922U2; propagated from
                     UniProtKB/Swiss-Prot (P13647.3); phosphorylation site"
     misc_feature    600..707
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="propagated from UniProtKB/Swiss-Prot (P13647.3);
                     Region: Coil 1A"
     misc_feature    708..764
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="propagated from UniProtKB/Swiss-Prot (P13647.3);
                     Region: Linker 1"
     misc_feature    765..1043
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="propagated from UniProtKB/Swiss-Prot (P13647.3);
                     Region: Coil 1B"
     misc_feature    1044..1112
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="propagated from UniProtKB/Swiss-Prot (P13647.3);
                     Region: Linker 12"
     misc_feature    1113..1529
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="propagated from UniProtKB/Swiss-Prot (P13647.3);
                     Region: Coil 2"
     misc_feature    1353..1355
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="Stutter; propagated from UniProtKB/Swiss-Prot
                     (P13647.3); other site"
     misc_feature    1530..1868
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="propagated from UniProtKB/Swiss-Prot (P13647.3);
                     Region: Tail"
     misc_feature    1794..1868
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="propagated from UniProtKB/Swiss-Prot (P13647.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2216..2221
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="hexamer: AATAAA"
     polyA_site      2238
                     /gene="KRT5"
                     /gene_synonym="CK5; DDD; DDD1; EBS1; EBS2; EBS2A; EBS2B;
                     EBS2C; EBS2D; EBS2E; EBS2F; K5; KRT5A"
                     /note="major polyA site"
ORIGIN
        1 aacagagcca ccttctgcgt cctgctgagc tctgttctct ccagcacctc ccaacccact
       61 agtgcctggt tctcttgctc caccaggaac aagccaccat gtctcgccag tcaagtgtgt
      121 ccttccggag cgggggcagt cgtagcttca gcaccgcctc tgccatcacc ccgtctgtct
      181 cccgcaccag cttcacctcc gtgtcccggt ccgggggtgg cggtggtggt ggcttcggca
      241 gggtcagcct tgcgggtgct tgtggagtgg gtggctatgg cagccggagc ctctacaacc
      301 tggggggctc caagaggata tccatcagca ctagtggtgg cagcttcagg aaccggtttg
      361 gtgctggtgc tggaggcggc tatggctttg gaggtggtgc cggtagtgga tttggtttcg
      421 gcggtggagc tggtggtggc tttgggctcg gtggcggagc tggctttgga ggtggcttcg
      481 gtggccctgg ctttcctgtc tgccctcctg gaggtatcca agaggtcact gtcaaccaga
      541 gtctcctgac tcccctcaac ctgcaaatcg accccagcat ccagagggtg aggaccgagg
      601 agcgcgagca gatcaagacc ctcaacaata agtttgcctc cttcatcgac aaggtgcggt
      661 tcctggagca gcagaacaag gttctggaca ccaagtggac cctgctgcag gagcagggca
      721 ccaagactgt gaggcagaac ctggagccgt tgttcgagca gtacatcaac aacctcagga
      781 ggcagctgga cagcatcgtg ggggaacggg gccgcctgga ctcagagctg agaaacatgc
      841 aggacctggt ggaagacttc aagaacaagt atgaggatga aatcaacaag cgtaccactg
      901 ctgagaatga gtttgtgatg ctgaagaagg atgtagatgc tgcctacatg aacaaggtgg
      961 agctggaggc caaggttgat gcactgatgg atgagattaa cttcatgaag atgttctttg
     1021 atgcggagct gtcccagatg cagacgcatg tctctgacac ctcagtggtc ctctccatgg
     1081 acaacaaccg caacctggac ctggatagca tcatcgctga ggtcaaggcc cagtatgagg
     1141 agattgccaa ccgcagccgg acagaagccg agtcctggta tcagaccaag tatgaggagc
     1201 tgcagcagac agctggccgg catggcgatg acctccgcaa caccaagcat gagatctctg
     1261 agatgaaccg gatgatccag aggctgagag ccgagattga caatgtcaag aaacagtgcg
     1321 ccaatctgca gaacgccatt gcggatgccg agcagcgtgg ggagctggcc ctcaaggatg
     1381 ccaggaacaa gctggccgag ctggaggagg ccctgcagaa ggccaagcag gacatggccc
     1441 ggctgctgcg tgagtaccag gagctcatga acaccaagct ggccctggac gtggagatcg
     1501 ccacttaccg caagctgctg gagggcgagg aatgcagact cagtggagaa ggagttggac
     1561 cagtcaacat ctctgttgtc acaagcagtg tttcctctgg atatggcagt ggcagtggct
     1621 atggcggtgg cctcggtgga ggtcttggcg gcggcctcgg tggaggtctt gccggaggta
     1681 gcagtggaag ctactactcc agcagcagtg ggggtgtcgg cctaggtggt gggctcagtg
     1741 tggggggctc tggcttcagt gcaagcagtg gccgagggct gggggtgggc tttggcagtg
     1801 gcgggggtag cagctccagc gtcaaatttg tctccaccac ctcctcctcc cggaagagct
     1861 tcaagagcta agaacctgct gcaagtcact gccttccaag tgcagcaacc cagcccatgg
     1921 agattgcctc ttctaggcag ttgctcaagc catgttttat ccttttctgg agagtagtct
     1981 agaccaagcc aattgcagaa ccacattctt tggttcccag gagagcccca ttcccagccc
     2041 ctggtctccc gtgccgcagt tctatattct gcttcaaatc agccttcagg tttcccacag
     2101 catggcccct gctgacacga gaacccaaag ttttcccaaa tctaaatcat caaaacagaa
     2161 tccccacccc aatcccaaat tttgttttgg ttctaactac ctccagaatg tgttcaataa
     2221 aatgctttta taatataa
//
LOCUS       NM_000426               9696 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens laminin subunit alpha 2 (LAMA2), transcript variant 1,
            mRNA.
ACCESSION   NM_000426
VERSION     NM_000426.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9696)
  AUTHORS   Sabry S, Issa MY, Abdel-Hamid MS, Eissa NR, Abdel-Ghafar SF, Ibrahim
            MM and Zaki MS.
  TITLE     An atypical expression of core alpha-Dystroglycan and Laminin-alpha2
            in skin fibroblasts of patients with congenital muscular dystrophies
  JOURNAL   Mol Biol Rep 50 (8), 6373-6379 (2023)
   PUBMED   37318662
  REMARK    GeneRIF: An atypical expression of core alpha-Dystroglycan and
            Laminin-alpha2 in skin fibroblasts of patients with congenital
            muscular dystrophies.
REFERENCE   2  (bases 1 to 9696)
  AUTHORS   Huang X, Tan D, Zhang Z, Ge L, Liu J, Ding J, Yang H, Wei C, Chang
            X, Yuan Y, Yan C and Xiong H.
  TITLE     Unique genotype-phenotype correlations within LAMA2-related limb
            girdle muscular dystrophy in Chinese patients
  JOURNAL   Front Neurol 14, 1158094 (2023)
   PUBMED   37206914
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 9696)
  AUTHORS   Camelo CG, Artilheiro MC, Martins Moreno CA, Ferraciolli SF, Serafim
            Silva AM, Fernandes TR, Lucato LT, Rocha AJ, Reed UC and Zanoteli E.
  TITLE     Brain MRI Abnormalities, Epilepsy and Intellectual Disability in
            LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation
  JOURNAL   J Neuromuscul Dis 10 (4), 483-492 (2023)
   PUBMED   37182895
  REMARK    GeneRIF: Brain MRI Abnormalities, Epilepsy and Intellectual
            Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype
            Correlation.
REFERENCE   4  (bases 1 to 9696)
  AUTHORS   Stojkovic T, Masingue M, Metay C, Romero NB, Eymard B, Ben Yaou R,
            Rialland L, Drunat S, Gartioux C, Nelson I, Allamand V, Bonne G and
            Villar-Quiles RN.
  TITLE     LAMA2-Related Muscular Dystrophy: The Importance of Accurate
            Phenotyping and Brain Imaging in the Diagnosis of LGMD
  JOURNAL   J Neuromuscul Dis 10 (1), 125-133 (2023)
   PUBMED   36373293
  REMARK    GeneRIF: LAMA2-Related Muscular Dystrophy: The Importance of
            Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
REFERENCE   5  (bases 1 to 9696)
  AUTHORS   Oliveira,J., Parente Freixo,J., Santos,M. and Coelho,T.
  TITLE     LAMA2 Muscular Dystrophy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   22675738
REFERENCE   6  (bases 1 to 9696)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301468
REFERENCE   7  (bases 1 to 9696)
  AUTHORS   Aeschlimann D and Paulsson M.
  TITLE     Cross-linking of laminin-nidogen complexes by tissue
            transglutaminase. A novel mechanism for basement membrane
            stabilization
  JOURNAL   J Biol Chem 266 (23), 15308-15317 (1991)
   PUBMED   1678389
REFERENCE   8  (bases 1 to 9696)
  AUTHORS   Chung AE and Durkin ME.
  TITLE     Entactin: structure and function
  JOURNAL   Am J Respir Cell Mol Biol 3 (4), 275-282 (1990)
   PUBMED   2119632
  REMARK    Review article
REFERENCE   9  (bases 1 to 9696)
  AUTHORS   Engvall E, Earwicker D, Haaparanta T, Ruoslahti E and Sanes JR.
  TITLE     Distribution and isolation of four laminin variants; tissue
            restricted distribution of heterotrimers assembled from five
            different subunits
  JOURNAL   Cell Regul 1 (10), 731-740 (1990)
   PUBMED   2099832
REFERENCE   10  (bases 1 to 9696)
  AUTHORS   Ehrig K, Leivo I, Argraves WS, Ruoslahti E and Engvall E.
  TITLE     Merosin, a tissue-specific basement membrane protein, is a
            laminin-like protein
  JOURNAL   Proc Natl Acad Sci U S A 87 (9), 3264-3268 (1990)
   PUBMED   2185464
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: Z26653.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000421865.3/ ENSP00000400365.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL445439.9, DA864571.1,
            AL041786.1, Z26653.1, CN414799.1, DB106101.1, AB208922.1,
            AL356124.17 and BM984634.1.
            On Dec 30, 2019 this sequence version replaced NM_000426.3.
            Summary: Laminin, an extracellular protein, is a major component of
            the basement membrane. It is thought to mediate the attachment,
            migration, and organization of cells into tissues during embryonic
            development by interacting with other extracellular matrix
            components. It is composed of three subunits, alpha, beta, and
            gamma, which are bound to each other by disulfide bonds into a
            cross-shaped molecule. This gene encodes the alpha 2 chain, which
            constitutes one of the subunits of laminin 2 (merosin) and laminin
            4 (s-merosin). Mutations in this gene have been identified as the
            cause of congenital merosin-deficient muscular dystrophy. Two
            transcript variants encoding different proteins have been found for
            this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..9696
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.33"
     gene            1..9696
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="laminin subunit alpha 2"
                     /db_xref="GeneID:3908"
                     /db_xref="HGNC:HGNC:6482"
                     /db_xref="MIM:156225"
     CDS             109..9477
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="isoform a precursor is encoded by transcript variant
                     1; merosin heavy chain; laminin M chain; laminin-2 subunit
                     alpha; laminin-4 subunit alpha; laminin-12 subunit alpha;
                     laminin, alpha 2; mutant laminin subunit alpha 2"
                     /codon_start=1
                     /product="laminin subunit alpha-2 isoform a precursor"
                     /protein_id="NP_000417.3"
                     /db_xref="CCDS:CCDS5138.1"
                     /db_xref="GeneID:3908"
                     /db_xref="HGNC:HGNC:6482"
                     /db_xref="MIM:156225"
                     /translation="MPGAAGVLLLLLLSGGLGGVQAQRPQQQRQSQAHQQRGLFPAVLN
                     LASNALITTNATCGEKGPEMYCKLVEHVPGQPVRNPQCRICNQNSSNPNQRHPITNAID
                     GKNTWWQSPSIKNGIEYHYVTITLDLQQVFQIAYVIVKAANSPRPGNWILERSLDDVEY
                     KPWQYHAVTDTECLTLYNIYPRTGPPSYAKDDEVICTSFYSKIHPLENGEIHISLINGR
                     PSADDPSPELLEFTSARYIRLRFQRIRTLNADLMMFAHKDPREIDPIVTRRYYYSVKDI
                     SVGGMCICYGHARACPLDPATNKSRCECEHNTCGDSCDQCCPGFHQKPWRAGTFLTKTE
                     CEACNCHGKAEECYYDENVARRNLSLNIRGKYIGGGVCINCTQNTAGINCETCTDGFFR
                     PKGVSPNYPRPCQPCHCDPIGSLNEVCVKDEKHARRGLAPGSCHCKTGFGGVSCDRCAR
                     GYTGYPDCKACNCSGLGSKNEDPCFGPCICKENVEGGDCSRCKSGFFNLQEDNWKGCDE
                     CFCSGVSNRCQSSYWTYGKIQDMSGWYLTDLPGRIRVAPQQDDLDSPQQISISNAEARQ
                     ALPHSYYWSAPAPYLGNKLPAVGGQLTFTISYDLEEEEEDTERVLQLMIILEGNDLSIS
                     TAQDEVYLHPSEEHTNVLLLKEESFTIHGTHFPVRRKEFMTVLANLKRVLLQITYSFGM
                     DAIFRLSSVNLESAVSYPTDGSIAAAVEVCQCPPGYTGSSCESCWPRHRRVNGTIFGGI
                     CEPCQCFGHAESCDDVTGECLNCKDHTGGPYCDKCLPGFYGEPTKGTSEDCQPCACPLN
                     IPSNNFSPTCHLDRSLGLICDGCPVGYTGPRCERCAEGYFGQPSVPGGSCQPCQCNDNL
                     DFSIPGSCDSLSGSCLICKPGTTGRYCELCADGYFGDAVDAKNCQPCRCNAGGSFSEVC
                     HSQTGQCECRANVQGQRCDKCKAGTFGLQSARGCVPCNCNSFGSKSFDCEESGQCWCQP
                     GVTGKKCDRCAHGYFNFQEGGCTACECSHLGNNCDPKTGRCICPPNTIGEKCSKCAPNT
                     WGHSITTGCKACNCSTVGSLDFQCNVNTGQCNCHPKFSGAKCTECSRGHWNYPRCNLCD
                     CFLPGTDATTCDSETKKCSCSDQTGQCTCKVNVEGIHCDRCRPGKFGLDAKNPLGCSSC
                     YCFGTTTQCSEAKGLIRTWVTLKAEQTILPLVDEALQHTTTKGIVFQHPEIVAHMDLMR
                     EDLHLEPFYWKLPEQFEGKKLMAYGGKLKYAIYFEAREETGFSTYNPQVIIRGGTPTHA
                     RIIVRHMAAPLIGQLTRHEIEMTEKEWKYYGDDPRVHRTVTREDFLDILYDIHYILIKA
                     TYGNFMRQSRISEISMEVAEQGRGTTMTPPADLIEKCDCPLGYSGLSCEACLPGFYRLR
                     SQPGGRTPGPTLGTCVPCQCNGHSSLCDPETSICQNCQHHTAGDFCERCALGYYGIVKG
                     LPNDCQQCACPLISSSNNFSPSCVAEGLDDYRCTACPRGYEGQYCERCAPGYTGSPGNP
                     GGSCQECECDPYGSLPVPCDPVTGFCTCRPGATGRKCDGCKHWHAREGWECVFCGDECT
                     GLLLGDLARLEQMVMSINLTGPLPAPYKMLYGLENMTQELKHLLSPQRAPERLIQLAEG
                     NLNTLVTEMNELLTRATKVTADGEQTGQDAERTNTRAKSLGEFIKELARDAEAVNEKAI
                     KLNETLGTRDEAFERNLEGLQKEIDQMIKELRRKNLETQKEIAEDELVAAEALLKKVKK
                     LFGESRGENEEMEKDLREKLADYKNKVDDAWDLLREATDKIREANRLFAVNQKNMTALE
                     KKKEAVESGKRQIENTLKEGNDILDEANRLADEINSIIDYVEDIQTKLPPMSEELNDKI
                     DDLSQEIKDRKLAEKVSQAESHAAQLNDSSAVLDGILDEAKNISFNATAAFKAYSNIKD
                     YIDEAEKVAKEAKDLAHEATKLATGPRGLLKEDAKGCLQKSFRILNEAKKLANDVKENE
                     DHLNGLKTRIENADARNGDLLRTLNDTLGKLSAIPNDTAAKLQAVKDKARQANDTAKDV
                     LAQITELHQNLDGLKKNYNKLADSVAKTNAVVKDPSKNKIIADADATVKNLEQEADRLI
                     DKLKPIKELEDNLKKNISEIKELINQARKQANSIKVSVSSGGDCIRTYKPEIKKGSYNN
                     IVVNVKTAVADNLLFYLGSAKFIDFLAIEMRKGKVSFLWDVGSGVGRVEYPDLTIDDSY
                     WYRIVASRTGRNGTISVRALDGPKASIVPSTHHSTSPPGYTILDVDANAMLFVGGLTGK
                     LKKADAVRVITFTGCMGETYFDNKPIGLWNFREKEGDCKGCTVSPQVEDSEGTIQFDGE
                     GYALVSRPIRWYPNISTVMFKFRTFSSSALLMYLATRDLRDFMSVELTDGHIKVSYDLG
                     SGMASVVSNQNHNDGKWKSFTLSRIQKQANISIVDIDTNQEENIATSSSGNNFGLDLKA
                     DDKIYFGGLPTLRNLSMKARPEVNLKKYSGCLKDIEISRTPYNILSSPDYVGVTKGCSL
                     ENVYTVSFPKPGFVELSPVPIDVGTEINLSFSTKNESGIILLGSGGTPAPPRRKRRQTG
                     QAYYAILLNRGRLEVHLSTGARTMRKIVIRPEPNLFHDGREHSVHVERTRGIFTVQVDE
                     NRRYMQNLTVEQPIEVKKLFVGGAPPEFQPSPLRNIPPFEGCIWNLVINSVPMDFARPV
                     SFKNADIGRCAHQKLREDEDGAAPAEIVIQPEPVPTPAFPTPTPVLTHGPCAAESEPAL
                     LIGSKQFGLSRNSHIAIAFDDTKVKNRLTIELEVRTEAESGLLFYMARINHADFATVQL
                     RNGLPYFSYDLGSGDTHTMIPTKINDGQWHKIKIMRSKQEGILYVDGASNRTISPKKAD
                     ILDVVGMLYVGGLPINYTTRRIGPVTYSIDGCVRNLHMAEAPADLEQPTSSFHVGTCFA
                     NAQRGTYFDGTGFAKAVGGFKVGLDLLVEFEFRTTTTTGVLLGISSQKMDGMGIEMIDE
                     KLMFHVDNGAGRFTAVYDAGVPGHLCDGQWHKVTANKIKHRIELTVDGNQVEAQSPNPA
                     STSADTNDPVFVGGFPDDLKQFGLTTSIPFRGCIRSLKLTKGTGKPLEVNFAKALELRG
                     VQPVSCPAN"
     sig_peptide     109..174
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     175..9474
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /product="Laminin subunit alpha-2. /id=PRO_0000017056"
                     /note="propagated from UniProtKB/Swiss-Prot (P24043.4)"
     misc_feature    271..273
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    373..375
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    1015..1017
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    1195..1197
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P24043.4); glycosylation site"
     misc_feature    1246..1248
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    1516..1518
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    2344..2346
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    3289..3291
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    4828..6540
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P24043.4);
                     Region: Domain II and I"
     misc_feature    4897..4899
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    4948..4950
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    5206..5208
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    5536..5538
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    5809..5811
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P24043.4); glycosylation site"
     misc_feature    5854..5856
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P24043.4); glycosylation site"
     misc_feature    5866..5868
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P24043.4); glycosylation site"
     misc_feature    6157..6159
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P24043.4); glycosylation site"
     misc_feature    6190..6192
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    6241..6243
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    6484..6486
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    6826..6828
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    7186..7188
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    7411..7413
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    7540..7542
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    7759..7761
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    7780..7782
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    8050..8052
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P24043.4); glycosylation site"
     misc_feature    8710..8712
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    8785..8787
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P24043.4); glycosylation site"
     misc_feature    9235..9297
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P24043.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      9672..9677
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="hexamer: ATTAAA"
     polyA_site      9696
                     /gene="LAMA2"
                     /gene_synonym="LAMM; MDC1A"
                     /note="major polyA site"
ORIGIN
        1 ctcttcccca gcagctgctg ctcgctcagc tcacaagcca aggccagggg acagggcggc
       61 agcgactcct ctggctcccg agaagtggat ccggtcgcgg ccactacgat gccgggagcc
      121 gccggggtcc tcctccttct gctgctctcc ggaggcctcg ggggcgtaca ggcgcagcgg
      181 ccgcagcagc agcggcagtc acaggcacat cagcaaagag gtttattccc tgctgtcctg
      241 aatcttgctt ctaatgctct tatcacgacc aatgcaacat gtggagaaaa aggacctgaa
      301 atgtactgca aattggtaga acatgtccct gggcagcctg tgaggaaccc gcagtgtcga
      361 atctgcaatc aaaacagcag caatccaaac cagagacacc cgattacaaa tgctattgat
      421 ggaaagaaca cttggtggca gagtcccagt attaagaatg gaatcgaata ccattatgtg
      481 acaattaccc tggatttaca gcaggtgttc cagatcgcgt atgtgattgt gaaggcagct
      541 aactcccccc ggcctggaaa ctggattttg gaacgctctc ttgatgatgt tgaatacaag
      601 ccctggcagt atcatgctgt gacagacacg gagtgcctaa cgctttacaa tatttatccc
      661 cgcactgggc caccgtcata tgccaaagat gatgaggtca tctgcacttc attttactcc
      721 aagatacacc ccttagaaaa tggagagatt cacatctctt taatcaatgg gagaccaagt
      781 gccgatgatc cttctccaga actgctagaa tttacctccg ctcgctatat tcgcctgaga
      841 tttcagagga tccgcacact gaatgctgac ttgatgatgt ttgctcacaa agacccaaga
      901 gaaattgacc ccattgtcac cagaagatat tactactcgg tcaaggatat ttcagttgga
      961 gggatgtgca tctgctatgg tcatgccagg gcttgtccac ttgatccagc gacaaataaa
     1021 tctcgctgtg agtgtgagca taacacatgt ggcgatagct gtgatcagtg ctgtccagga
     1081 ttccatcaga aaccctggag agctggaact tttctaacta aaactgaatg tgaagcatgc
     1141 aattgtcatg gaaaagctga agaatgctat tatgatgaaa atgttgccag aagaaatctg
     1201 agtttgaata tacgtggaaa gtacattgga gggggtgtct gcattaattg tacccaaaac
     1261 actgctggta taaactgcga gacatgtact gatggcttct tcagacccaa aggggtatct
     1321 ccaaattatc caaggccatg ccagccatgt cattgcgatc caattggttc cttaaatgaa
     1381 gtctgtgtca aggatgagaa acatgctcga cgaggtttgg cacctggatc ctgtcattgc
     1441 aaaactggtt ttggaggtgt gagctgtgat cggtgtgcca ggggctacac tggctacccg
     1501 gactgcaaag cctgtaactg cagtgggtta gggagcaaaa atgaggatcc ttgttttggc
     1561 ccctgtatct gcaaggaaaa tgttgaagga ggagactgta gtcgttgcaa atccggcttc
     1621 ttcaatttgc aagaggataa ttggaaaggc tgcgatgagt gtttctgttc aggggtttca
     1681 aacagatgtc agagttccta ctggacctat ggcaaaatac aagatatgag tggctggtat
     1741 ctgactgacc ttcctggccg cattcgagtg gctccccagc aggacgactt ggactcacct
     1801 cagcagatca gcatcagtaa cgcggaggcc cggcaagccc tgccgcacag ctactactgg
     1861 agcgcgccgg ctccctatct gggaaacaaa ctcccagcag taggaggaca gttgacattt
     1921 accatatcat atgaccttga agaagaggaa gaagatacag aacgtgttct ccagcttatg
     1981 attatcttag agggtaatga cttgagcatc agcacagccc aagatgaggt gtacctgcac
     2041 ccatctgaag aacatactaa tgtattgtta cttaaagaag aatcatttac catacatggc
     2101 acacattttc cagtccgtag aaaggaattt atgacagtgc ttgcgaattt gaagagagtc
     2161 ctcctacaaa tcacatacag ctttgggatg gatgccatct tcaggttgag ctctgttaac
     2221 cttgaatccg ctgtctccta tcctactgat ggaagcattg cagcagctgt agaagtgtgt
     2281 cagtgcccac cagggtatac tggctcctct tgtgaatctt gttggcctag gcacaggcga
     2341 gttaacggca ctatttttgg tggcatctgt gagccatgtc agtgctttgg tcatgcggag
     2401 tcctgtgatg acgtcactgg agaatgcctg aactgtaagg atcacacagg tggcccatat
     2461 tgtgataaat gtcttcctgg tttctatggc gagcctacta aaggaacctc tgaagactgt
     2521 caaccctgtg cctgtccact caatatccca tccaataact ttagcccaac gtgccattta
     2581 gaccggagtc ttggattgat ctgtgatgga tgccctgtcg ggtacacagg accacgctgt
     2641 gagaggtgtg cagaaggcta ttttggacaa ccctctgtac ctggaggatc atgtcagcca
     2701 tgccaatgca atgacaacct tgacttctcc atccctggca gctgtgacag cttgtctggc
     2761 tcctgtctga tatgtaaacc aggtacaaca ggccggtact gtgagctctg tgctgatgga
     2821 tattttggag atgcagttga tgcgaagaac tgtcagccct gtcgctgtaa tgccggtggc
     2881 tctttctctg aggtttgcca cagtcaaact ggacagtgtg agtgcagagc caacgttcag
     2941 ggtcagagat gtgacaaatg caaggctggg acctttggcc tacaatcagc aaggggctgt
     3001 gttccctgca actgcaattc ttttgggtct aagtcattcg actgtgaaga gagtggacaa
     3061 tgttggtgcc aacctggagt cacagggaag aaatgtgacc gctgtgccca cggctatttc
     3121 aacttccaag aaggaggctg cacagcttgt gaatgttctc atctgggtaa taattgtgac
     3181 ccaaagactg ggcgatgcat ttgccctccc aataccattg gagagaaatg ttctaaatgt
     3241 gcacccaata cctggggcca cagcattacc actggttgta aggcttgtaa ctgcagcaca
     3301 gtgggatcct tggatttcca atgcaatgta aatacaggcc aatgcaactg tcatccaaaa
     3361 ttctctggtg caaaatgtac agagtgcagt cgaggtcact ggaactaccc tcgctgcaat
     3421 ctctgtgact gcttcctccc tgggacagat gccacaacct gtgattcaga gactaaaaaa
     3481 tgctcctgta gtgatcaaac tgggcagtgc acttgtaagg tgaatgtgga aggcatccac
     3541 tgtgacagat gccggcctgg caaattcgga ctcgatgcca agaatccact tggctgcagc
     3601 agctgctatt gcttcggcac tactacccag tgctctgaag caaaaggact gatccggacg
     3661 tgggtgactc tgaaggctga gcagaccatt ctacccctgg tagatgaggc tctgcagcac
     3721 acgaccacca agggcattgt ttttcaacat ccagagattg ttgcccacat ggacctgatg
     3781 agagaagatc tccatttgga acctttttat tggaaacttc cagaacaatt tgaaggaaag
     3841 aagttgatgg cctatggggg caaactcaag tatgcaatct atttcgaggc tcgggaagaa
     3901 acaggtttct ctacatataa tcctcaagtg atcattcgag gtgggacacc tactcatgct
     3961 agaattatcg tcaggcatat ggctgctcct ctgattggcc aattgacaag gcatgaaatt
     4021 gaaatgacag agaaagaatg gaaatattat ggggatgatc ctcgagtcca tagaactgtg
     4081 acccgagaag acttcttgga tatactatat gatattcatt acattcttat caaagctact
     4141 tatggaaatt tcatgcgaca aagcaggatt tctgaaatct caatggaggt agctgaacaa
     4201 ggacgtggaa caacaatgac tcctccagct gacttgattg aaaaatgtga ttgtcccctg
     4261 ggctattctg gcctgtcctg tgaggcatgc ttgccgggat tttatcgact gcgttctcaa
     4321 ccaggtggcc gcacccctgg accaaccctg ggcacctgtg ttccatgtca atgtaatgga
     4381 cacagcagcc tgtgtgaccc tgaaacatcg atatgccaga attgtcaaca tcacactgct
     4441 ggtgacttct gtgaacgatg tgctcttgga tactatggaa ttgtcaaggg attgccaaat
     4501 gactgtcagc aatgtgcctg ccctctgatt tcttccagta acaatttcag cccctcttgt
     4561 gtcgcagaag gacttgacga ctaccgctgc acggcttgtc cacggggata tgaaggccag
     4621 tactgtgaaa ggtgtgcccc tggctatact ggcagtccag gcaaccctgg aggctcctgc
     4681 caagaatgtg agtgtgatcc ctatggctca ctgcctgtgc cctgtgaccc tgtcacagga
     4741 ttctgcacgt gccgacctgg agccacggga aggaagtgtg acggctgcaa gcactggcat
     4801 gcacgcgagg gctgggagtg tgttttttgt ggagatgagt gcactggcct tcttctcggt
     4861 gacttggctc gcctggagca gatggtcatg agcatcaacc tcactggtcc gctgcctgcg
     4921 ccatataaaa tgctgtatgg tcttgaaaat atgactcagg agctaaagca cttgctgtca
     4981 cctcagcggg ccccagagag gcttattcag ctggcagagg gcaatctgaa tacactcgtg
     5041 accgaaatga acgagctgct gaccagggct accaaagtga cagcagatgg cgagcagacc
     5101 ggacaggatg ctgagaggac caacacaaga gcaaagtccc tgggagaatt cattaaggag
     5161 cttgcccggg atgcagaagc tgtaaatgaa aaagctataa aactaaatga aactctagga
     5221 actcgagacg aggcctttga gagaaatttg gaagggcttc agaaagagat tgaccagatg
     5281 attaaagaac tgaggaggaa aaatctagag acacaaaagg aaattgctga agatgagttg
     5341 gtagctgcag aagcccttct gaaaaaagtg aagaagctgt ttggagagtc ccggggggaa
     5401 aatgaagaaa tggagaagga tctccgggaa aaactggctg actacaaaaa caaagttgat
     5461 gatgcttggg accttttgag agaagccaca gataaaatca gagaagctaa tcgcctattt
     5521 gcagtaaatc agaaaaacat gactgcattg gagaaaaaga aggaggctgt tgaaagcggc
     5581 aaacgacaaa ttgagaacac tttaaaagag ggcaatgaca tactcgatga agccaaccgt
     5641 cttgcagatg aaatcaactc catcatagac tatgttgaag acatccaaac taaattgcca
     5701 cctatgtctg aggagcttaa tgataaaata gatgacctct cccaagaaat aaaggacagg
     5761 aagcttgctg agaaggtgtc ccaggctgag agccacgcag ctcagttgaa tgactcatct
     5821 gctgtccttg atggaatcct tgatgaggct aaaaacatct ccttcaatgc cactgcagcc
     5881 ttcaaagctt acagcaatat taaggactat attgatgaag ctgagaaagt tgccaaagaa
     5941 gccaaagatc ttgcacatga agctacaaaa ctggcaacag gtcctcgggg tttattaaag
     6001 gaagatgcca aaggctgtct tcagaaaagc ttcaggattc ttaacgaagc caagaagtta
     6061 gcaaatgatg taaaagaaaa tgaagaccat ctaaatggct taaaaaccag gatagaaaat
     6121 gctgatgcta gaaatgggga tctcttgaga actttgaatg acactttggg aaagttatca
     6181 gctattccaa atgatacagc tgctaaactg caagctgtta aggacaaagc cagacaagcc
     6241 aacgacacag ctaaagatgt actggcacag attacagagc tccaccagaa cctcgatggc
     6301 ctgaagaaga attacaataa actagcagac agcgtcgcca aaacgaatgc tgtggttaaa
     6361 gatccttcca agaacaaaat cattgccgat gcagatgcca ctgtcaaaaa tttagaacag
     6421 gaagctgacc ggctaataga taaactcaaa cccatcaagg aacttgagga taacctaaag
     6481 aaaaacatct ctgagataaa ggaattgata aaccaagctc ggaaacaagc caattctatc
     6541 aaagtatctg tgtcttcagg aggtgactgc attcgaacat acaaaccaga aatcaagaaa
     6601 ggaagttaca ataatattgt tgtcaacgta aagacagctg ttgctgataa cctcctcttt
     6661 tatcttggaa gtgccaaatt tattgacttt ctggctatag aaatgcgtaa aggcaaagtc
     6721 agcttcctct gggatgttgg atctggagtt ggacgtgtag agtacccaga tttgactatt
     6781 gatgactcat attggtaccg tatcgtagca tcaagaactg ggagaaatgg aactatttct
     6841 gtgagagccc tggatggacc caaagccagc attgtgccca gcacacacca ttcgacgtct
     6901 cctccagggt acacgattct agatgtggat gcaaatgcaa tgctgtttgt tggtggcctg
     6961 actgggaaat taaagaaggc tgatgctgta cgtgtgatta cattcactgg ctgcatggga
     7021 gaaacatact ttgacaacaa acctataggt ttgtggaatt tccgagaaaa agaaggtgac
     7081 tgcaaaggat gcactgtcag tcctcaggtg gaagatagtg aggggactat tcaatttgat
     7141 ggagaaggtt atgcattggt cagccgtccc attcgctggt accccaacat ctccactgtc
     7201 atgttcaagt tcagaacatt ttcttcgagt gctcttctga tgtatcttgc cacacgagac
     7261 ctgagagatt tcatgagtgt ggagctcact gatgggcaca taaaagtcag ttacgatctg
     7321 ggctcaggaa tggcttccgt tgtcagcaat caaaaccata atgatgggaa atggaaatca
     7381 ttcactctgt caagaattca aaaacaagcc aatatatcaa ttgtagatat agatactaat
     7441 caggaggaga atatagcaac ttcgtcttct ggaaacaact ttggtcttga cttgaaagca
     7501 gatgacaaaa tatattttgg tggcctgcca acgctgagaa acttgagtat gaaagcaagg
     7561 ccagaagtaa atctgaagaa atattccggc tgcctcaaag atattgaaat ttcaagaact
     7621 ccgtacaata tactcagtag tcccgattat gttggtgtta ccaaaggatg ttccctggag
     7681 aatgtttaca cagttagctt tcctaagcct ggttttgtgg agctctcccc tgtgccaatt
     7741 gatgtaggaa cagaaatcaa cctgtcattc agcaccaaga atgagtccgg catcattctt
     7801 ttgggaagtg gagggacacc agcaccacct aggagaaaac gaaggcagac tggacaggcc
     7861 tattatgcaa tactcctcaa caggggccgt ctggaagtgc atctctccac aggggcacga
     7921 acaatgagga aaattgtgat cagaccagag ccgaatctgt ttcatgatgg aagagaacat
     7981 tccgttcatg tagagcgaac tagaggcatc tttacagttc aagtggatga aaacagaaga
     8041 tacatgcaaa acctgacagt tgaacagcct atcgaagtta aaaagctttt cgttgggggt
     8101 gctccacctg aatttcaacc ttccccactc agaaatattc ctccttttga aggctgcata
     8161 tggaatcttg ttattaactc tgtccccatg gactttgcaa ggcctgtgtc cttcaaaaat
     8221 gctgacattg gtcgctgtgc ccatcagaaa ctccgtgaag atgaagatgg agcagctcca
     8281 gctgaaatag ttatccagcc tgagccagtt cccaccccag cctttcctac gcccacccca
     8341 gttctgacac atggtccttg tgctgcagaa tcagaaccag ctcttttgat agggagcaag
     8401 cagttcgggc tttcaagaaa cagtcacatt gcaattgcat ttgatgacac caaagttaaa
     8461 aaccgtctca caattgagtt ggaagtaaga accgaagctg aatccggctt gcttttttac
     8521 atggctcgca tcaatcatgc tgattttgca acagttcagc tgagaaatgg attgccctac
     8581 ttcagctatg acttggggag tggggacacc cacaccatga tccccaccaa aatcaatgat
     8641 ggccagtggc acaagattaa gataatgaga agtaagcaag aaggaattct ttatgtagat
     8701 ggggcttcca acagaaccat cagtcccaaa aaagccgaca tcctggatgt cgtgggaatg
     8761 ctgtatgttg gtgggttacc catcaactac actacccgaa gaattggtcc agtgacctat
     8821 agcattgatg gctgcgtcag gaatctccac atggcagagg cccctgccga tctggaacaa
     8881 cccacctcca gcttccatgt tgggacatgt tttgcaaatg ctcagagggg aacatatttt
     8941 gacggaaccg gttttgccaa agcagttggt ggattcaaag tgggattgga ccttcttgta
     9001 gaatttgaat tccgcacaac tacaacgact ggagttcttc tggggatcag tagtcaaaaa
     9061 atggatggaa tgggtattga aatgattgat gaaaagttga tgtttcatgt ggacaatggt
     9121 gcgggcagat tcactgctgt ctatgatgct ggggttccag ggcatttgtg tgatggacaa
     9181 tggcataaag tcactgccaa caagatcaaa caccgcattg agctcacagt cgatgggaac
     9241 caggtggaag cccaaagccc aaacccagca tctacatcag ctgacacaaa tgaccctgtg
     9301 tttgttggag gcttcccaga tgacctcaag cagtttggcc taacaaccag tattccgttc
     9361 cgaggttgca tcagatccct gaagctcacc aaaggcacag gcaagccact ggaggttaat
     9421 tttgccaagg ccctggaact gaggggcgtt caacctgtat catgcccagc caactaataa
     9481 aaataagtgt aaccccagga agagtctgtc aaaacaagta tatcaagtaa aacaaacaaa
     9541 tatattttac ctatatatgt taattaaact aatttgtgca tgtacataga attctttctg
     9601 tattcagatg gtgctaattc agactccaga ctgaatttta attcaagttc tttctcaagt
     9661 ctataaataa tattaaactg attatttcat tctaaa
//
LOCUS       NM_000427               1245 bp    mRNA    linear   PRI 19-JUN-2023
DEFINITION  Homo sapiens loricrin cornified envelope precursor protein
            (LORICRIN), mRNA.
ACCESSION   NM_000427
VERSION     NM_000427.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1245)
  AUTHORS   Wertheim-Tysarowska K, Osipowicz K, Gielniewski B, Wojtas B,
            Szabelska-Beresewicz A, Zyprych-Walczak J, Mika A, Tysarowski A, Duk
            K, Rygiel AM, Niepokoj K, Wozniak K, Kowalewski C, Wierzba J and
            Jezela-Stanek A.
  TITLE     The Epidermal Transcriptome Analysis of a Novel c.639_642dup
            LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology
  JOURNAL   Int J Mol Sci 24 (11), 9459 (2023)
   PUBMED   37298411
  REMARK    GeneRIF: The Epidermal Transcriptome Analysis of a Novel
            c.639_642dup LORICRIN Variant-Delineation of the Loricrin
            Keratoderma Pathology. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1245)
  AUTHORS   Gao X, Li H, Zhao S, Li X, Zhao J, Long Y, Zhang J, Liao Y, Li S,
            Guo K, Yi J, Chen S and Ma M.
  TITLE     The c.323 G>C mutation in LORICRIN causes new-found late-onset
            autosomal dominant loricrin keratoderma in a Chinese Han Pedigree
  JOURNAL   J Dermatol Sci 106 (1), 37-44 (2022)
   PUBMED   35346558
  REMARK    GeneRIF: The c.323 G>C mutation in LORICRIN causes new-found
            late-onset autosomal dominant loricrin keratoderma in a Chinese Han
            Pedigree.
REFERENCE   3  (bases 1 to 1245)
  AUTHORS   Furue M.
  TITLE     Regulation of Filaggrin, Loricrin, and Involucrin by IL-4, IL-13,
            IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in Atopic
            Dermatitis
  JOURNAL   Int J Mol Sci 21 (15), 5382 (2020)
   PUBMED   32751111
  REMARK    GeneRIF: Regulation of Filaggrin, Loricrin, and Involucrin by IL-4,
            IL-13, IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in
            Atopic Dermatitis. Review article Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1245)
  AUTHORS   Ellis R, Tang D, Nasr B, Greenwood A, McConnell A, Anagnostou ME,
            Elias M, Verykiou S, Bajwa D, Ewen T, Reynolds NJ, Barrett P,
            Carling E, Watson G, Armstrong J, Allen AJ, Horswell S, Labus M and
            Lovat PE.
  TITLE     Epidermal autophagy and beclin 1 regulator 1 and loricrin: a
            paradigm shift in the prognostication and stratification of the
            American Joint Committee on Cancer stage I melanomas
  JOURNAL   Br J Dermatol 182 (1), 156-165 (2020)
   PUBMED   31056744
  REMARK    GeneRIF: Epidermal autophagy and beclin 1 regulator 1 and loricrin:
            a paradigm shift in the prognostication and stratification of the
            American Joint Committee on Cancer stage I melanomas.
REFERENCE   5  (bases 1 to 1245)
  AUTHORS   Kim MJ, Im MA, Lee JS, Mun JY, Kim DH, Gu A and Kim IS.
  TITLE     Effect of S100A8 and S100A9 on expressions of cytokine and skin
            barrier protein in human keratinocytes
  JOURNAL   Mol Med Rep 20 (3), 2476-2483 (2019)
   PUBMED   31322196
  REMARK    GeneRIF: S100A8 and S100A9 decreased the expression of skin barrier
            proteins, filaggrin and loricrin.
REFERENCE   6  (bases 1 to 1245)
  AUTHORS   Candi E, Melino G, Mei G, Tarcsa E, Chung SI, Marekov LN and
            Steinert PM.
  TITLE     Biochemical, structural, and transglutaminase substrate properties
            of human loricrin, the major epidermal cornified cell envelope
            protein
  JOURNAL   J Biol Chem 270 (44), 26382-26390 (1995)
   PUBMED   7592852
REFERENCE   7  (bases 1 to 1245)
  AUTHORS   Steinert PM and Marekov LN.
  TITLE     The proteins elafin, filaggrin, keratin intermediate filaments,
            loricrin, and small proline-rich proteins 1 and 2 are isodipeptide
            cross-linked components of the human epidermal cornified cell
            envelope
  JOURNAL   J Biol Chem 270 (30), 17702-17711 (1995)
   PUBMED   7543090
REFERENCE   8  (bases 1 to 1245)
  AUTHORS   Yoneda K and Steinert PM.
  TITLE     Overexpression of human loricrin in transgenic mice produces a
            normal phenotype
  JOURNAL   Proc Natl Acad Sci U S A 90 (22), 10754-10758 (1993)
   PUBMED   8248167
REFERENCE   9  (bases 1 to 1245)
  AUTHORS   Yoneda K, Hohl D, McBride OW, Wang M, Cehrs KU, Idler WW and
            Steinert PM.
  TITLE     The human loricrin gene
  JOURNAL   J Biol Chem 267 (25), 18060-18066 (1992)
   PUBMED   1355480
REFERENCE   10  (bases 1 to 1245)
  AUTHORS   Hohl D, Mehrel T, Lichti U, Turner ML, Roop DR and Steinert PM.
  TITLE     Characterization of human loricrin. Structure and function of a new
            class of epidermal cell envelope proteins
  JOURNAL   J Biol Chem 266 (10), 6626-6636 (1991)
   PUBMED   2007607
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC108290.1, ERR279841.8111.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368742.4/ ENSP00000357731.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161636.21 and BC108290.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000427.2.
            Summary: This gene encodes loricrin, a major protein component of
            the cornified cell envelope found in terminally differentiated
            epidermal cells. Mutations in this gene are associated with
            Vohwinkel's syndrome and progressive symmetric erythrokeratoderma,
            both inherited skin diseases. [provided by RefSeq, Jul 2008].
            Sequence Note: Two alleles are present in unaffected individuals.
            The RefSeq record represents the allele present in the reference
            genome.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1245
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..1245
                     /gene="LORICRIN"
                     /gene_synonym="LOR"
                     /note="loricrin cornified envelope precursor protein"
                     /db_xref="GeneID:4014"
                     /db_xref="HGNC:HGNC:6663"
                     /db_xref="MIM:152445"
     CDS             71..1009
                     /gene="LORICRIN"
                     /gene_synonym="LOR"
                     /codon_start=1
                     /product="loricrin"
                     /protein_id="NP_000418.2"
                     /db_xref="CCDS:CCDS30870.1"
                     /db_xref="GeneID:4014"
                     /db_xref="HGNC:HGNC:6663"
                     /db_xref="MIM:152445"
                     /translation="MSYQKKQPTPQPPVDCVKTSGGGGGGGGSGGGGCGFFGGGGSGGG
                     SSGSGCGYSGGGGYSGGGCGGGSSGGGGGGGIGGCGGGSGGSVKYSGGGGSSGGGSGCF
                     SSGGGGSGCFSSGGGGSSGGGSGCFSSGGGGSSGGGSGCFSSGGGGFSGQAVQCQSYGG
                     VSSGGSSGGGSGCFSSGGGGGSVCGYSGGGSGCGGGSSGGSGSGYVSSQQVTQTSCAPQ
                     PSYGGGSSGGGGSGGSGCFSSGGGGGSSGCGGGSSGIGSGCIISGGGSVCGGGSSGGGG
                     GGSSVGGSGSGKGVPICHQTQQKQAPTWPSK"
     misc_feature    71..151
                     /gene="LORICRIN"
                     /gene_synonym="LOR"
                     /note="propagated from UniProtKB/Swiss-Prot (P23490.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    896..1006
                     /gene="LORICRIN"
                     /gene_synonym="LOR"
                     /note="propagated from UniProtKB/Swiss-Prot (P23490.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    655
                     /gene="LORICRIN"
                     /gene_synonym="LOR"
                     /note="location of 12 nt insertion in other allele"
     regulatory      1222..1227
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LORICRIN"
                     /gene_synonym="LOR"
                     /note="hexamer: AATAAA"
     polyA_site      1245
                     /gene="LORICRIN"
                     /gene_synonym="LOR"
                     /note="major polyA site"
ORIGIN
        1 acattgccag catcttctct cctcactcac ccttcctggt gctttgggct ctccttcctt
       61 ctcagacaag atgtcttatc agaaaaagca gcccacccct cagcccccag tggactgcgt
      121 gaagacctct ggcggcggtg gcggtggcgg cggcagcggc ggtggtggct gcggcttctt
      181 cggcggcggc ggctcagggg gcggtagcag cggttctggc tgcggctact ccggcggcgg
      241 tggctactct ggcggcggct gcggcggggg ctcctccggc ggcgggggcg ggggcggcat
      301 tggaggctgc ggagggggct ccggtgggag cgtcaagtac tccggaggcg gcggctcctc
      361 cggcgggggc tctggctgtt tctccagcgg tgggggcggc tccggctgct tctcctccgg
      421 tggcggcggc tcctccgggg gcggctccgg ctgcttctcc agcggtgggg gcggctcctc
      481 cgggggcggc tccggctgct tctcctccgg cggcggcggc ttctcgggcc aggcggtcca
      541 gtgccagagc tacggaggcg tctctagcgg cggctcctcc gggggcggct ccggctgctt
      601 ctccagcggc gggggcggcg gctctgtctg cggctactct ggcggcggct ctggctgcgg
      661 cggaggctcc tctggcggca gcggctccgg ctacgtctcc tcgcagcagg tcactcagac
      721 ctcgtgcgcg ccccagccga gttacggagg ggggtcgtcc ggcggcggcg gcagcggcgg
      781 aagcggctgc ttctccagcg gcgggggcgg cgggagctcc ggctgcggcg gcggctcctc
      841 cgggattggc agcggctgca tcatcagtgg cgggggctcc gtctgcggag gtggttcctc
      901 tggaggcggc ggcggcggct cctccgtggg tggctccggg agtggcaagg gcgtcccgat
      961 ctgccaccag acccagcaga agcaggcgcc tacctggccg tccaaataga tcccccaggg
     1021 taccacggag gcgaaggagt tggaggtgtt ttccaggggc accgatgggc ttagagctct
     1081 catgatgcta cccgaggttt gcaaatcctt catgtcttaa cctacctgga agaagccatt
     1141 gagctctccg gctgcatcta gttctgctgt ttagcctctt tggtttctgt acaactacct
     1201 cccaacccca gtgcctcagt caataaattt gcaaattcat gagaa
//
LOCUS       NM_000428               8460 bp    mRNA    linear   PRI 24-MAR-2023
DEFINITION  Homo sapiens latent transforming growth factor beta binding protein
            2 (LTBP2), mRNA.
ACCESSION   NM_000428
VERSION     NM_000428.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8460)
  AUTHORS   Wang T, Zhou Z, Wang C, Qin Y, Wu L, Hu B, Jin Q, Wei W and Huang M.
  TITLE     LTBP2 Knockdown Promotes Ferroptosis in Gastric Cancer Cells through
            p62-Keap1-Nrf2 Pathway
  JOURNAL   Biomed Res Int 2022, 6532253 (2022)
   PUBMED   35968244
  REMARK    GeneRIF: LTBP2 Knockdown Promotes Ferroptosis in Gastric Cancer
            Cells through p62-Keap1-Nrf2 Pathway. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 8460)
  AUTHORS   Li Y, Meng F, Sui C, Wang Y and Cheng D.
  TITLE     CircWHSC1 expedites cervical cancer progression via miR-532-3p/LTBP2
            axis
  JOURNAL   Mol Cell Biochem 477 (6), 1669-1679 (2022)
   PUBMED   35235125
  REMARK    GeneRIF: CircWHSC1 expedites cervical cancer progression via
            miR-532-3p/LTBP2 axis.
REFERENCE   3  (bases 1 to 8460)
  AUTHORS   Zhao J, Liu X, Cong K, Chang J, Shan H and Zheng Y.
  TITLE     The prognostic significance of LTBP2 for malignant tumors: Evidence
            based on 11 observational studies
  JOURNAL   Medicine (Baltimore) 101 (17), e29207 (2022)
   PUBMED   35512078
  REMARK    GeneRIF: The prognostic significance of LTBP2 for malignant tumors:
            Evidence based on 11 observational studies. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 8460)
  AUTHORS   Halbgebauer D, Roos J, Funcke JB, Neubauer H, Hamilton BS, Simon E,
            Amri EZ, Debatin KM, Wabitsch M, Fischer-Posovszky P and Tews D.
  TITLE     Latent TGFbeta-binding proteins regulate UCP1 expression and
            function via TGFbeta2
  JOURNAL   Mol Metab 53, 101336 (2021)
   PUBMED   34481123
  REMARK    GeneRIF: Latent TGFbeta-binding proteins regulate UCP1 expression
            and function via TGFbeta2.
REFERENCE   5  (bases 1 to 8460)
  AUTHORS   Bashir MM, Han MD, Abrams WR, Tucker T, Ma RI, Gibson M, Ritty T,
            Mecham R and Rosenbloom J.
  TITLE     Analysis of the human gene encoding latent transforming growth
            factor-beta-binding protein-2
  JOURNAL   Int J Biochem Cell Biol 28 (5), 531-542 (1996)
   PUBMED   8697098
REFERENCE   6  (bases 1 to 8460)
  AUTHORS   Chambaz EM, Souchelnitskiy S, Pellerin S, Defaye G, Cochet C and
            Feige JJ.
  TITLE     Transforming growth factors-beta s: a multifunctional cytokine
            family. Implication in the regulation of adrenocortical cell
            endocrine functions
  JOURNAL   Horm Res 45 (3-5), 222-226 (1996)
   PUBMED   8964588
  REMARK    Review article
REFERENCE   7  (bases 1 to 8460)
  AUTHORS   Li X, Yin W, Perez-Jurado L, Bonadio J and Francke U.
  TITLE     Mapping of human and murine genes for latent TGF-beta binding
            protein-2 (LTBP2)
  JOURNAL   Mamm Genome 6 (1), 42-45 (1995)
   PUBMED   7719025
REFERENCE   8  (bases 1 to 8460)
  AUTHORS   Moren A, Olofsson A, Stenman G, Sahlin P, Kanzaki T, Claesson-Welsh
            L, ten Dijke P, Miyazono K and Heldin CH.
  TITLE     Identification and characterization of LTBP-2, a novel latent
            transforming growth factor-beta-binding protein
  JOURNAL   J Biol Chem 269 (51), 32469-32478 (1994)
   PUBMED   7798248
REFERENCE   9  (bases 1 to 8460)
  AUTHORS   Abu-Amero,K.K. and Edward,D.P.
  TITLE     Primary Congenital Glaucoma
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301314
REFERENCE   10  (bases 1 to 8460)
  AUTHORS   Marzin,P., Cormier-Daire,V. and Tsilou,E.
  TITLE     Weill-Marchesani Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301293
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC078659.1, AB209865.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000261978.9/ ENSP00000261978.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013451.8 and AC005479.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000428.2.
            Summary: The protein encoded by this gene belongs to the family of
            latent transforming growth factor (TGF)-beta binding proteins
            (LTBP), which are extracellular matrix proteins with multi-domain
            structure. This protein is the largest member of the LTBP family
            possessing unique regions and with most similarity to the
            fibrillins. It has thus been suggested that it may have multiple
            functions: as a member of the TGF-beta latent complex, as a
            structural component of microfibrils, and a role in cell adhesion.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8460
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..8460
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="latent transforming growth factor beta binding
                     protein 2"
                     /db_xref="GeneID:4053"
                     /db_xref="HGNC:HGNC:6715"
                     /db_xref="MIM:602091"
     CDS             294..5759
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="LTBP-2"
                     /codon_start=1
                     /product="latent-transforming growth factor beta-binding
                     protein 2 precursor"
                     /protein_id="NP_000419.1"
                     /db_xref="CCDS:CCDS9831.1"
                     /db_xref="GeneID:4053"
                     /db_xref="HGNC:HGNC:6715"
                     /db_xref="MIM:602091"
                     /translation="MRPRTKARSPGRALRNPWRGFLPLTLALFVGAGHAQRDPVGRYEP
                     AGGDANRLRRPGGSYPAAAAAKVYSLFREQDAPVAGLQPVERAQPGWGSPRRPTEAEAR
                     RPSRAQQSRRVQPPAQTRRSTPLGQQQPAPRTRAAPALPRLGTPQRSGAAPPTPPRGRL
                     TGRNVCGGQCCPGWTTANSTNHCIKPVCEPPCQNRGSCSRPQLCVCRSGFRGARCEEVI
                     PDEEFDPQNSRLAPRRWAERSPNLRRSSAAGEGTLARAQPPAPQSPPAPQSPPAGTLSG
                     LSQTHPSQQHVGLSRTVRLHPTATASSQLSSNALPPGPGLEQRDGTQQAVPLEHPSSPW
                     GLNLTEKIKKIKIVFTPTICKQTCARGHCANSCERGDTTTLYSQGGHGHDPKSGFRIYF
                     CQIPCLNGGRCIGRDECWCPANSTGKFCHLPIPQPDREPPGRGSRPRALLEAPLKQSTF
                     TLPLSNQLASVNPSLVKVHIHHPPEASVQIHQVAQVRGGVEEALVENSVETRPPPWLPA
                     SPGHSLWDSNNIPARSGEPPRPLPPAAPRPRGLLGRCYLNTVNGQCANPLLELTTQEDC
                     CGSVGAFWGVTLCAPCPPRPASPVIENGQLECPQGYKRLNLTHCQDINECLTLGLCKDA
                     ECVNTRGSYLCTCRPGLMLDPSRSRCVSDKAISMLQGLCYRSLGPGTCTLPLAQRITKQ
                     ICCCSRVGKAWGSECEKCPLPGTEAFREICPAGHGYTYASSDIRLSMRKAEEEELARPP
                     REQGQRSSGALPGPAERQPLRVVTDTWLEAGTIPDKGDSQAGQVTTSVTHAPAWVTGNA
                     TTPPMPEQGIAEIQEEQVTPSTDVLVTLSTPGIDRCAAGATNVCGPGTCVNLPDGYRCV
                     CSPGYQLHPSQAYCTDDNECLRDPCKGKGRCINRVGSYSCFCYPGYTLATSGATQECQD
                     INECEQPGVCSGGQCTNTEGSYHCECDQGYIMVRKGHCQDINECRHPGTCPDGRCVNSP
                     GSYTCLACEEGYRGQSGSCVDVNECLTPGVCAHGKCTNLEGSFRCSCEQGYEVTSDEKG
                     CQDVDECASRASCPTGLCLNTEGSFACSACENGYWVNEDGTACEDLDECAFPGVCPSGV
                     CTNTAGSFSCKDCDGGYRPSPLGDSCEDVDECEDPQSSCLGGECKNTVGSYQCLCPQGF
                     QLANGTVCEDVNECMGEEHCAPHGECLNSHGSFFCLCAPGFVSAEGGTSCQDVDECATT
                     DPCVGGHCVNTEGSFNCLCETGFQPSPESGECVDIDECEDYGDPVCGTWKCENSPGSYR
                     CVLGCQPGFHMAPNGDCIDIDECANDTMCGSHGFCDNTDGSFRCLCDQGFEISPSGWDC
                     VDVNECELMLAVCGAALCENVEGSFLCLCASDLEEYDAQEGHCRPRGAGGQSMSEAPTG
                     DHAPAPTRMDCYSGQKGHAPCSSVLGRNTTQAECCCTQGASWGDACDLCPSEDSAEFSE
                     ICPSGKGYIPVEGAWTFGQTMYTDADECVIFGPGLCPNGRCLNTVPGYVCLCNPGFHYD
                     ASHKKCEDHDECQDLACENGECVNTEGSFHCFCSPPLTLDLSQQRCMNSTSSTEDLPDH
                     DIHMDICWKKVTNDVCSEPLRGHRTTYTECCCQDGEAWSQQCALCPPRSSEVYAQLCNV
                     ARIEAEREAGVHFRPGYEYGPGPDDLHYSIYGPDGAPFYNYLGPEDTVPEPAFPNTAGH
                     SADRTPILESPLQPSELQPHYVASHPEPPAGFEGLQAEECGILNGCENGRCVRVREGYT
                     CDCFEGFQLDAAHMACVDVNECDDLNGPAVLCVHGYCENTEGSYRCHCSPGYVAEAGPP
                     HCTAKE"
     sig_peptide     294..398
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    405..467
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14767.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    534..788
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14767.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    573..638
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14767.3);
                     Region: Heparin-binding"
     misc_feature    834..836
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14767.3); glycosylation site"
     misc_feature    978..1310
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14767.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    987..1040
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14767.3);
                     Region: Heparin-binding"
     misc_feature    1320..1322
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14767.3); glycosylation site"
     misc_feature    1416..1424
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14767.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    1554..1556
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14767.3); glycosylation site"
     misc_feature    1809..1811
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O08999; propagated from
                     UniProtKB/Swiss-Prot (Q14767.3); phosphorylation site"
     misc_feature    1821..1925
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14767.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2139..2141
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14767.3); glycosylation site"
     misc_feature    2523..2609
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14767.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2724..2726
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14767.3); glycosylation site"
     misc_feature    3801..3803
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14767.3); glycosylation site"
     misc_feature    4218..4220
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14767.3); glycosylation site"
     misc_feature    4581..4583
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14767.3); glycosylation site"
     misc_feature    4995..4997
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14767.3); glycosylation site"
     misc_feature    5208..5756
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14767.3);
                     Region: C-terminal domain.
                     /evidence=ECO:0000269|PubMed:17293099"
     regulatory      6866..6871
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="hexamer: AATAAA"
     polyA_site      6886
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="major polyA site"
     regulatory      8440..8445
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
                     /note="hexamer: AATAAA"
     polyA_site      8460
                     /gene="LTBP2"
                     /gene_synonym="C14orf141; GLC3D; LTBP3; MSPKA; MSTP031;
                     WMS3"
ORIGIN
        1 ccaaaaataa aaccgtccgg gtccccttca gacggctgca ggcacaggga ggaggcgcga
       61 aggtgcagca gccgtgcgag cccagctgga gtaggagcgc ggactcgagg ctcggggcgc
      121 gcagccctcg ttccgccgag agccgggccc ccagtcggcc gcttcagggc cccctagact
      181 cagagaagct ggccgccggg cggggccggg agaacagccc gcgggcgtcc agcgtgccga
      241 ccacaaagct cttcgcggtg cccgcgcgca ccactctcca gccgccccgc gccatgaggc
      301 cgcggaccaa agcccgcagc ccggggcgcg ccctgcggaa cccctggaga ggcttcctgc
      361 cgctcaccct ggctctcttc gtgggcgcgg gtcatgccca aagggacccc gtagggagat
      421 acgagccggc tggtggagac gcgaatcgac tgcggcgccc tgggggcagc tacccggcag
      481 cggctgcagc caaggtgtac agtctgttcc gggagcagga cgcgcctgtc gcgggcttgc
      541 agcccgtgga gcgggcccag ccgggctggg ggagccccag gaggcccacc gaggcggagg
      601 ccaggaggcc gtcccgcgcg cagcagtcgc ggcgtgtcca gccacctgcg cagacccgga
      661 gaagcactcc cctgggccag cagcaaccag caccccggac ccgggccgcg ccggctctcc
      721 cacgcctggg gaccccacag cggtctgggg ctgcgccccc aaccccgccg cgagggcggc
      781 tcacggggag gaacgtctgc gggggacagt gctgcccagg atggacaaca gcaaacagca
      841 ccaaccactg tatcaaaccc gtttgcgagc cgccgtgcca gaaccggggc tcctgcagcc
      901 gcccgcagct ctgtgtctgc cgctctggtt tccgtggagc ccgctgcgag gaggtcattc
      961 ccgatgagga atttgacccc cagaactcca ggctggcacc tcgacgctgg gccgagcgtt
     1021 cacccaacct gcgcaggagc agtgcggctg gagagggcac cttggccaga gcacagccgc
     1081 cagcaccaca gtcgccgccc gcaccacagt cgccaccagc tgggaccctg agtggcctca
     1141 gccagaccca cccttcccag cagcacgtgg ggttgtcccg cactgtccga cttcacccga
     1201 ctgccacggc cagtagccag ctctcttcca acgccctgcc cccgggacca ggccttgagc
     1261 agagagatgg cacccaacag gcggtacctc tggagcaccc ctcatccccc tgggggctga
     1321 acctcacgga gaaaatcaag aagatcaaga tcgtcttcac tcccaccatc tgcaagcaga
     1381 cctgtgcccg tggacactgt gccaacagct gtgagagggg cgacaccacc accctgtaca
     1441 gccagggcgg ccatgggcac gatcccaagt ctggcttccg catctatttc tgccagatcc
     1501 cctgcctgaa cggaggccgc tgcatcggca gggacgaatg ctggtgcccc gccaactcca
     1561 ccgggaagtt ctgccacctg cctatcccgc agccggacag ggagcctcca gggagggggt
     1621 cccgccccag ggccttgctg gaagccccac tgaagcagtc cactttcaca ctgccgctct
     1681 ccaaccagct ggcctccgtg aacccctccc tggtgaaggt gcacattcac cacccacccg
     1741 aggcctcagt gcagatccac caggtggccc aggtgcgggg cggggtggag gaggccctag
     1801 tggagaacag cgtggagacc agacccccgc cctggctgcc tgccagccct ggccacagcc
     1861 tctgggacag caacaacatc cctgctcggt ctggagagcc ccctcggcca ctgcccccag
     1921 cagcacccag gcctcgagga ctgctgggcc ggtgttacct gaacactgtg aacggacagt
     1981 gtgccaaccc tctgctggag ctgactaccc aggaggactg ctgtggcagt gtgggagcct
     2041 tctggggggt gactttgtgt gccccatgcc cacccagacc agcctccccg gtgattgaga
     2101 atggccagct ggagtgtcct caggggtaca agagactgaa cctcactcac tgccaagata
     2161 tcaacgagtg cttgaccctg ggcctgtgca aggacgcgga gtgtgtgaat accaggggca
     2221 gctacctgtg cacatgcaga cctggcctca tgctggatcc atcgcggagc cgctgtgtgt
     2281 cggacaaggc aatctccatg ctgcagggac tgtgctaccg gtcgctgggg cccggcacct
     2341 gcaccctgcc tttggcccag cggatcacca agcagatatg ctgctgcagc cgcgtgggca
     2401 aagcatgggg cagcgagtgt gagaaatgcc ctctgcctgg cacagaggcc ttcagagaga
     2461 tctgccctgc cggccacggc tacacctacg cgagctccga catccgcctg tccatgagga
     2521 aagccgagga ggaggaactg gcaaggcccc caagggagca agggcagagg agcagcgggg
     2581 cactgcccgg gccagcagag aggcagcccc tccgggtcgt cacggacacc tggcttgagg
     2641 ccgggaccat ccctgacaag ggtgactctc aggctggcca ggtcacgacc agtgtcactc
     2701 atgcacctgc ctgggtcaca gggaatgcca caaccccacc aatgcctgaa caggggattg
     2761 cagagataca ggaagaacaa gtgaccccct ccactgatgt gctggtgacc ctgagcaccc
     2821 caggcattga cagatgcgct gctggagcca ccaacgtctg tggccctgga acctgcgtga
     2881 acctccccga tggatacaga tgtgtctgca gccctggcta ccagctgcac cccagccagg
     2941 cctactgcac agatgacaac gagtgtctga gggacccctg caagggaaaa gggcgctgca
     3001 tcaaccgcgt ggggtcctac tcctgcttct gctaccctgg ctacactctg gccacctcag
     3061 gggcgacaca ggagtgtcaa gatatcaatg agtgtgagca gccaggggtg tgcagcgggg
     3121 ggcagtgcac caacaccgag ggctcgtacc actgcgagtg tgatcagggc tacatcatgg
     3181 tcaggaaagg acactgccaa gatatcaacg aatgccgtca ccccggtacc tgccctgatg
     3241 ggagatgcgt caattcccct ggctcctaca cttgtctggc ctgtgaggag ggctaccggg
     3301 gccagagtgg gagctgtgta gatgtgaatg agtgtctgac tcccggggtc tgtgcccatg
     3361 gaaagtgcac caacctagaa ggctccttca gatgctcttg tgagcagggc tatgaggtca
     3421 cctcagatga gaagggctgc caagatgtgg atgagtgtgc cagccgggcc tcatgcccca
     3481 caggcctctg cctcaacacg gagggctcct tcgcctgctc tgcctgtgag aacgggtact
     3541 gggtgaatga agacggcact gcctgtgaag acctagatga gtgtgccttc ccgggagtct
     3601 gcccctccgg agtctgcacc aacacggctg gctccttctc ctgcaaggac tgcgatgggg
     3661 gctaccggcc cagccccctg ggtgactcct gtgaagatgt ggatgaatgt gaagaccccc
     3721 agagcagctg cctgggaggc gagtgcaaga acactgtggg ctcctaccag tgcctctgtc
     3781 cccagggctt ccagctggcc aatggcaccg tgtgtgagga tgtgaatgag tgcatggggg
     3841 aggagcactg cgcaccccac ggcgagtgcc tcaacagcca cgggtctttc ttctgtctgt
     3901 gcgcgcctgg cttcgtcagc gcagaggggg gcaccagctg ccaggatgtg gacgagtgtg
     3961 ccaccacaga cccgtgtgtg ggagggcact gtgtcaacac cgagggctcc ttcaactgtc
     4021 tatgtgagac tggcttccag ccctccccag agagtggaga gtgtgtggat attgacgagt
     4081 gtgaggacta tggagacccg gtgtgtggca cctggaagtg tgaaaacagc cctggctcct
     4141 accgctgtgt tctgggctgc cagcctggct tccacatggc cccgaacgga gactgcattg
     4201 acatagacga gtgcgccaac gacaccatgt gtggcagcca cggcttctgt gacaacactg
     4261 atggctcctt ccgctgcctc tgtgaccagg gcttcgagat ctctccctca ggctgggact
     4321 gtgtggatgt gaacgagtgt gagcttatgc tggcggtatg tggggccgcg ctctgtgaga
     4381 acgtggaggg ctccttcctg tgcctctgtg ccagtgacct ggaggagtac gatgcccagg
     4441 aggggcactg ccgcccacgg ggggctggag gtcagagtat gtctgaggcc ccaacggggg
     4501 accatgcccc ggcccccacc cgcatggact gctactccgg gcagaagggc catgcgccct
     4561 gctccagtgt cctgggccgg aacaccacac aggctgaatg ctgctgcacc cagggcgcta
     4621 gctggggaga tgcctgtgac ctctgcccgt ctgaggactc agctgaattc agcgagatct
     4681 gccctagtgg aaaaggctac attcctgtgg aaggagcctg gacgtttgga cagaccatgt
     4741 acacagatgc ggatgagtgt gtgatattcg ggcctggtct ctgcccgaac ggccggtgcc
     4801 tcaacaccgt gcctggttat gtctgcctgt gcaatcccgg cttccactac gatgcttccc
     4861 acaagaagtg tgaggatcac gatgagtgcc aggacctggc ctgtgagaat ggcgagtgcg
     4921 tcaacacgga gggctccttc cactgcttct gcagcccccc gctcaccctg gacctcagcc
     4981 agcagcgctg catgaacagc accagcagca cggaggacct ccctgaccac gacatccaca
     5041 tggacatctg ctggaaaaaa gtcaccaatg atgtgtgcag cgaacccctg cgtgggcacc
     5101 gcaccaccta cacggaatgc tgctgccagg acggcgaggc ctggagccag cagtgtgctc
     5161 tgtgtccccc gaggagctct gaggtctatg ctcagctgtg caacgtggct cgcattgagg
     5221 cagagcggga ggccggggtc cacttccggc caggctatga gtatggcccc gggcccgatg
     5281 acctgcacta cagcatctat ggcccagatg gggccccctt ctacaactac ctgggccccg
     5341 aggacaccgt ccctgagcct gccttcccca acacagccgg tcactcagcg gaccgcacac
     5401 ccatccttga gtctcctttg cagccctcag aactccagcc ccactacgtg gccagccatc
     5461 cagagccccc agccggcttc gaagggcttc aggcggagga gtgcggcatc ctgaacggct
     5521 gtgagaatgg ccgctgtgtg cgcgtgcggg agggctacac ctgtgactgt tttgagggct
     5581 tccagctgga tgcggcccac atggcctgcg tagatgtgaa tgagtgtgat gacttgaacg
     5641 ggcctgctgt gctctgtgtc catggttact gcgagaacac agagggctcc taccgctgcc
     5701 actgctcccc gggatatgtg gctgaggcag ggccccccca ctgcactgcc aaggagtagc
     5761 agtcaggggt cagtgtggca actacctgga aatggcctcc agtcacaggc aggggccttg
     5821 aggatgattt cctagctggg aagacaccgt gacatcaggc cagaggtttc caatcagcct
     5881 tgcctgcttt catctctccc agcttagcct ctggctgtaa gcttcggtca ttgcctccat
     5941 gcccttgctt ggctcaagca ccaccaatcg ctttaatgct tcagccaccg catgaggccc
     6001 tgtccaccac ctttcctggc cttgctatgg gatgcttacc aaaggatggc cctcatccac
     6061 cctcccaagc tgtgcgagca tgcaaggccc catggcctca cactgcagac acccctttcc
     6121 agccacaatc caccatcatc ctgacgatcc cacaactggg acagaggcta catctgccct
     6181 agggaggtcc ttcagaatct gtggagcaag aaaggatttg gggaagcttg gggactgact
     6241 ccagagcccc ctcctaagaa ccatcaccac cactcagcca atctgttctg ggccctgatt
     6301 ttgccacacc tccatcctgt agcccattct ctgaccccaa ggagtggcag aagatccctt
     6361 cactcagaga agcaaggctg atattagctt gttgaatgta agagacacaa atgaagaaga
     6421 acaaagagcc tgagaaagca gcaagaggac atgatgaaaa atacgtggag ttgatgagaa
     6481 aggggagcca aggctttata cgtctaaaga aaatattcag tagctgaatc cgcccagtga
     6541 tagcctgtgg gcaccagcag caagggctgc catgggatac agcacccatc tacaaagacc
     6601 tctattacat aaacactgct tcttacagga aacaaacctc ttctgggatc tccttttgtg
     6661 aaaaccagtt tgatgtgcta aaagtaaaaa gtctattttc cagtgtggtc ttgttcagaa
     6721 gcagccagat ttccaatgtt gtttttcccc tccactcaga aacccctgcc ctttcccttc
     6781 agaaaacgat ggcaggcatt cctctgagtt tacaagcaga gactcactcc aacccaaact
     6841 agctgggagt tcagaaccat ggtggaataa agaaatgtgc atctggtctc ttctgttgtt
     6901 tttatttcat atcagattaa atttctttac catgttggct aagtctaaat attagagatg
     6961 aggctgtgcc tactccctgg ccagctctgc tgatagccta tgatgggttc caatgggaaa
     7021 tgactcttta ctattaaaag acaaggaaag ctctgacttc gtacttctct gatgaatggc
     7081 aatgtaaatg aacaaggctc catgtgactg gagcatggaa gtgaatgcta ctttcttaat
     7141 ttaatctgcc ctgtcctacc tgctcctctg attgttagcc atcacataac ttattgaatg
     7201 cttgccatgt gccaggcact gtgctgagtg ccatacatac atttcattta attatccaat
     7261 aatcctactt actattgttt attctcaatt tacaggtgag gaaactgaga catagaaagc
     7321 ttaaataatt tgctctaggt ccctatacta attgagatgt tttcagcaga caaaaataag
     7381 tcactcttac gcatgtaaaa atattctttc actcataata aaagaaatgc aacttaaaac
     7441 catactgaga tcctttttaa aactgtcaga ttggcaaaga tcaaaaagct tgttaagact
     7501 cctagctggc aagcatgtgg gaaataggta ctctcataac agctgacaga agtacatatt
     7561 gaagaggaca atatggcaat gtccttcaaa attataaaag cactaactct ttgatccagt
     7621 agtttccact tctaggaact taaccttcag atatattttc accagatata aaatgacata
     7681 cgtaagaagt tattactgca tcatttgtaa tagctaaaga ttagaaacaa ttaattgcta
     7741 tggaaccctt aaaaaaggtg gctctaaatt ccttaagaaa gatatccaaa acaaattaag
     7801 gggaaaaggg agggttgcat aacagcatgt aacataacac tatttgtcta aagaatgggg
     7861 aaagagaagc ggttgtctgt tcacctcatc cttgccactc cgccttatac ctcaccatcg
     7921 gagaacttac catcccccaa atatatcctg ctggcactac accttcgtaa ctgctgttcc
     7981 cactgccccc acaacactcc aatctccacc ttcctgccaa ccttgagata ttgtatgcat
     8041 atatacatat ttcctttgtt taaaatacaa atagcatact atgcatgctg ttctgcactt
     8101 tgcttttttt ttatacttgc aattagagct gcctcatttc attttacagc tgtatactat
     8161 tccattgaat ggataaacca taatttattt aatcagtccc tcactgacag acgtttccat
     8221 tgtttcctgt cttttgctat aaataatgct gtaatgaata ttcttgtgca tatttcacat
     8281 taatttatgg gattacatct gcaggataaa ttcttagaac caatggtggt ttgtggggag
     8341 ggtgacaggg tggataggta caggattggg agacttttca ctgtatctcc ttttgtattt
     8401 ttttgaattt tgtaccatat gtatcaccta ttcaaaaaaa ataaaatatt tttaaataca
//
LOCUS       NM_000429               3384 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens methionine adenosyltransferase 1A (MAT1A), mRNA.
ACCESSION   NM_000429
VERSION     NM_000429.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3384)
  AUTHORS   Barbier-Torres L, Murray B, Yang JW, Wang J, Matsuda M, Robinson A,
            Binek A, Fan W, Fernandez-Ramos D, Lopitz-Otsoa F, Luque-Urbano M,
            Millet O, Mavila N, Peng H, Ramani K, Gottlieb R, Sun Z,
            Liangpunsakul S, Seki E, Van Eyk JE, Mato JM and Lu SC.
  TITLE     Depletion of mitochondrial methionine adenosyltransferase alpha1
            triggers mitochondrial dysfunction in alcohol-associated liver
            disease
  JOURNAL   Nat Commun 13 (1), 557 (2022)
   PUBMED   35091576
  REMARK    GeneRIF: Depletion of mitochondrial methionine adenosyltransferase
            alpha1 triggers mitochondrial dysfunction in alcohol-associated
            liver disease. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3384)
  AUTHORS   Chen PM, Tsai CH, Huang CC, Hwang HH, Li JR, Liu CC, Ko HA and
            Chiang EI.
  TITLE     Downregulation of Methionine Cycle Genes MAT1A and GNMT Enriches
            Protein-Associated Translation Process and Worsens Hepatocellular
            Carcinoma Prognosis
  JOURNAL   Int J Mol Sci 23 (1), 481 (2022)
   PUBMED   35008908
  REMARK    GeneRIF: Downregulation of Methionine Cycle Genes MAT1A and GNMT
            Enriches Protein-Associated Translation Process and Worsens
            Hepatocellular Carcinoma Prognosis. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3384)
  AUTHORS   Bannick A, Chase S, Miner A, Seeterlin M and Conway RL.
  TITLE     Methionine adenosyltransferase I/III deficiency: Long-term follow-up
            and treatment of 3 adult siblings
  JOURNAL   Eur J Med Genet 63 (12), 104076 (2020)
   PUBMED   32980525
  REMARK    GeneRIF: Methionine adenosyltransferase I/III deficiency: Long-term
            follow-up and treatment of 3 adult siblings.
REFERENCE   4  (bases 1 to 3384)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 3384)
  AUTHORS   Panmanee J, Antonyuk SV and Hasnain SS.
  TITLE     Structural basis of the dominant inheritance of hypermethioninemia
            associated with the Arg264His mutation in the MAT1A gene
  JOURNAL   Acta Crystallogr D Struct Biol 76 (Pt 6), 594-607 (2020)
   PUBMED   32496220
  REMARK    GeneRIF: Structural basis of the dominant inheritance of
            hypermethioninemia associated with the Arg264His mutation in the
            MAT1A gene.
REFERENCE   6  (bases 1 to 3384)
  AUTHORS   Surtees R, Leonard J and Austin S.
  TITLE     Association of demyelination with deficiency of cerebrospinal-fluid
            S-adenosylmethionine in inborn errors of methyl-transfer pathway
  JOURNAL   Lancet 338 (8782-8783), 1550-1554 (1991)
   PUBMED   1683972
REFERENCE   7  (bases 1 to 3384)
  AUTHORS   Horikawa S and Tsukada K.
  TITLE     Molecular cloning and nucleotide sequence of cDNA encoding the human
            liver S-adenosylmethionine synthetase
  JOURNAL   Biochem Int 25 (1), 81-90 (1991)
   PUBMED   1772450
REFERENCE   8  (bases 1 to 3384)
  AUTHORS   Gahl,W.A., Finkelstein,J.D., Mullen,K.D., Bernardini,I.,
            Martin,J.J., Backlund,P., Ishak,K.G., Hoofnagle,J.H. and Mudd,S.H.
  TITLE     Hepatic methionine adenosyltransferase deficiency in a 31-year-old
            man
  JOURNAL   Am J Hum Genet 40 (1), 39-49 (1987)
   PUBMED   3812486
REFERENCE   9  (bases 1 to 3384)
  AUTHORS   Okada,G., Teraoka,H. and Tsukada,K.
  TITLE     Multiple species of mammalian S-adenosylmethionine synthetase.
            Partial purification and characterization
  JOURNAL   Biochemistry 20 (4), 934-940 (1981)
   PUBMED   7213623
REFERENCE   10  (bases 1 to 3384)
  AUTHORS   Allsop,J. and Watts,R.W.
  TITLE     Methionine adenosyltransferase, cystathionine beta-synthase and
            cystathionine gamma-lyase activity of rat liver subcellular
            particles, human blood cells and mixed white cells from rat bone
            marrow
  JOURNAL   Clin Sci Mol Med Suppl 48 (6), 509-513 (1975)
   PUBMED   1056281
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC018359.1, AK290820.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03267761,
            SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000372213.8/ ENSP00000361287.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM738684.1, BX496326.1,
            X69078.1 and BC018359.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000429.2.
            Summary: This gene catalyzes a two-step reaction that involves the
            transfer of the adenosyl moiety of ATP to methionine to form
            S-adenosylmethionine and tripolyphosphate, which is subsequently
            cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl
            groups for most biological methylations. The encoded protein is
            found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a
            third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations
            in this gene are associated with methionine adenosyltransferase
            deficiency. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3384
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.3"
     gene            1..3384
                     /gene="MAT1A"
                     /gene_synonym="MAT; MATA1; SAMS; SAMS1"
                     /note="methionine adenosyltransferase 1A"
                     /db_xref="GeneID:4143"
                     /db_xref="HGNC:HGNC:6903"
                     /db_xref="MIM:610550"
     misc_feature    215..217
                     /gene="MAT1A"
                     /gene_synonym="MAT; MATA1; SAMS; SAMS1"
                     /note="upstream in-frame stop codon"
     CDS             236..1423
                     /gene="MAT1A"
                     /gene_synonym="MAT; MATA1; SAMS; SAMS1"
                     /EC_number="2.5.1.6"
                     /note="MAT 1; MAT-I/III; adoMet synthetase 1; methionine
                     adenosyltransferase 1; methionine adenosyltransferase
                     I/III; adoMet synthase 1; methionine adenosyltransferase I,
                     alpha"
                     /codon_start=1
                     /product="S-adenosylmethionine synthase isoform type-1"
                     /protein_id="NP_000420.1"
                     /db_xref="CCDS:CCDS7365.1"
                     /db_xref="GeneID:4143"
                     /db_xref="HGNC:HGNC:6903"
                     /db_xref="MIM:610550"
                     /translation="MNGPVDGLCDHSLSEGVFMFTSESVGEGHPDKICDQISDAVLDAH
                     LKQDPNAKVACETVCKTGMVLLCGEITSMAMVDYQRVVRDTIKHIGYDDSAKGFDFKTC
                     NVLVALEQQSPDIAQCVHLDRNEEDVGAGDQGLMFGYATDETEECMPLTIILAHKLNAR
                     MADLRRSGLLPWLRPDSKTQVTVQYMQDNGAVIPVRIHTIVISVQHNEDITLEEMRRAL
                     KEQVIRAVVPAKYLDEDTVYHLQPSGRFVIGGPQGDAGVTGRKIIVDTYGGWGAHGGGA
                     FSGKDYTKVDRSAAYAARWVAKSLVKAGLCRRVLVQVSYAIGVAEPLSISIFTYGTSQK
                     TERELLDVVHKNFDLRPGVIVRDLDLKKPIYQKTACYGHFGRSEFPWEVPRKLVF"
     misc_feature    572..610
                     /gene="MAT1A"
                     /gene_synonym="MAT; MATA1; SAMS; SAMS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00266.2);
                     Region: Flexible loop.
                     /evidence=ECO:0000250|UniProtKB:P0A817"
     regulatory      3362..3367
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAT1A"
                     /gene_synonym="MAT; MATA1; SAMS; SAMS1"
                     /note="hexamer: AATAAA"
     polyA_site      3384
                     /gene="MAT1A"
                     /gene_synonym="MAT; MATA1; SAMS; SAMS1"
                     /note="major polyA site"
ORIGIN
        1 gtggcaagct ggagggaggg acacatcccg tgttccatcc actccctccc ttctcagcag
       61 tcctcgcctg ttctcacgtg ctcacaggca gttaggcaga agtgatcccc gtggctctgc
      121 caaagacaag cctgttgggt tgaaagaaga agaagaagaa gaaaaaaaaa ctcaggcaaa
      181 gtcacagcct caaaattgtt cactgaaaga agcgtgagtg gagaagtgtg agaagatgaa
      241 tggaccggtg gatggcttgt gtgaccactc tctaagtgaa ggagtcttca tgttcacatc
      301 ggagtctgtg ggagagggac acccggataa gatctgtgac cagatcagtg atgcagtgct
      361 ggatgcccat ctcaagcaag accccaatgc caaggtggcc tgtgagacag tgtgcaagac
      421 cggcatggtg ctgctgtgtg gtgagatcac ctcaatggcc atggtggact accagcgggt
      481 ggtgagggac accatcaagc acatcggcta cgatgactca gccaagggct ttgacttcaa
      541 gacttgcaac gtgctggtgg ctttggagca gcaatcccca gatattgccc agtgcgtcca
      601 tctggacaga aatgaggagg atgtgggggc aggagatcag ggtttgatgt tcggctatgc
      661 taccgacgag acagaggagt gcatgcccct caccatcatc cttgctcaca agctcaacgc
      721 ccggatggca gacctcaggc gctccggcct cctcccctgg ctgcggcctg actctaagac
      781 tcaggtgaca gttcagtaca tgcaggacaa tggcgcagtc atccctgtgc gcatccacac
      841 catcgtcatc tctgtgcagc acaacgaaga catcacgctg gaggagatgc gcagggccct
      901 gaaggagcaa gtcatcaggg ccgtggtgcc ggccaagtac ctggacgaag acaccgtcta
      961 ccacctgcag cccagtgggc ggtttgtcat cggaggtccc cagggggatg cgggtgtcac
     1021 tggccgtaag attattgtgg acacctatgg cggctggggg gctcatggtg gtggggcctt
     1081 ctctgggaag gactacacca aggtagaccg ctcagctgca tatgctgccc gctgggtggc
     1141 caagtctctg gtgaaagcag ggctctgccg gagagtgctt gtccaggttt cctatgccat
     1201 tggtgtggcc gagccgctgt ccatttccat cttcacctac ggaacctctc agaagacaga
     1261 gcgagagctg ctggatgtgg tgcataagaa cttcgacctc cggccgggcg tcattgtcag
     1321 ggatttggac ttgaagaagc ccatctacca gaagacagca tgctacggcc atttcggaag
     1381 aagcgagttc ccatgggagg ttcccaggaa gcttgtattt tagagccagg gggagctggg
     1441 cctggtctca ccctggaggc acctggtggc catgctcctc ttccccagac gcctggctgc
     1501 tgatcgcctt ccccacccac caaccctcag ggcaaagcca ggtccctctc atttagcctg
     1561 tcctgtcatc atcatggcca gctggaggca ggggcttcct ggtgctggag gttggatctt
     1621 gatgtaagga tgggcatggt gttctcctgc tgctccctca gactggggca atgttaattt
     1681 agtggaaaag gcacccccgt caagagtgaa ttccctcact cgtctccccc aacagctgga
     1741 ccctgaccag ctccccctcc ctccccttgc ctgtgccagg tgaggtcagc acatctcaac
     1801 aggcctcagg gctccttgtg ggcctgggct cctggacccc cctttcacag gcagccagtg
     1861 ccctgagcca gggtctccag aaagccccac ccaggccagg catgtggcag gggttagagc
     1921 aggactgatg tctcctaagc acctgtaatg tgcgagggac ccagctaata actgatctcg
     1981 ttttttcttc actgcaacat gatgaggtag taccttttat atcccattta tagatggggg
     2041 aaagcaaagc acagagagtc tggataactt ccacagggtc ccacagccac gtgtttagac
     2101 ctagatgtat aactaggagc tttgactcag gagcctgtga cataccccct cccccaccgt
     2161 tgtctcatgc cagtaacagg ctcaaacaat gacaaagcag attcagaaat gaggccatgg
     2221 actctgtcct gaaggcctga ggttactgga aattagggga ttaacccact agctcttgtt
     2281 gagccgtggg caattgtctg aaaagtgaag acagaaccac agggctattt tgtttgcttc
     2341 atgtgtccca gaagatgact gagggtgagt tggcttacct ggcccatcag ggtaggctgg
     2401 agttagggac tgaccagcag ctttagaatc ccagccccct gaccactcag agacatgcag
     2461 agattgggtt tttggacttc tggggtaagt ggtctaagtc cagtccagtc ctatctgggc
     2521 ttcctggagc agaagcagca acttgtccta gcacagatgg ccagcccctt agacagaggc
     2581 cctcaagtct ttctctttcc ctggtccctt gtatcccctg caggctgagt gcatttggag
     2641 ggagtgagtg gccctttcgg atccagggag gctggtccta tggcctcatg ttaaataggc
     2701 ggggcttgcc ttctggtgtt ggacaagctt ctgagacgtc atgaggagat tctgcctttg
     2761 ccaggtgact gtctggggag cgggtctgct cccaaggggc ctgagcagtc cttggcctgc
     2821 taaggtcttg gaacttgcct gcctttccat ccatggccag cagcacctgc cctacctgcc
     2881 ccacttgtcc ttagcctgga cctctgacag cagcatctct accttctccc cagctcccag
     2941 gaccacaggc tcaggcaggg gcctccatgg gccccagggg aacactgggg acttggcctc
     3001 tctctagggt acatggtgct gggagaggca gcccaggaag tctcatctgg ggagcaggca
     3061 gccagcatct gggccttggc ctggagcaca aagaccctgg ctttcatttt ctctcaggtg
     3121 aaaggaaatt aaggcaacaa aagaagcccg gctcctggtc acctaggaag cctcagattc
     3181 cttcccatgg agggagggag tggtttgcag gtggccaagt tcctctaact tggctcacac
     3241 tcgacatgaa aattcagaat tttatacttt ccctaccctc tagagaaata agatcttttt
     3301 tgtcagtttg tttgtatgaa actaaagcct ttatttgtta atagttcctg ctaaaacaat
     3361 gaataaaaac tcaaggagca acta
//
LOCUS       NM_000430               5589 bp    mRNA    linear   PRI 12-MAY-2023
DEFINITION  Homo sapiens platelet activating factor acetylhydrolase 1b
            regulatory subunit 1 (PAFAH1B1), mRNA.
ACCESSION   NM_000430
VERSION     NM_000430.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5589)
  AUTHORS   Mitevska O, Lam PW, Daly L and Auckland P.
  TITLE     Lis1-dynein drives corona compaction and limits erroneous
            microtubule attachment at kinetochores
  JOURNAL   J Cell Sci 136 (5) (2023)
   PUBMED   36274587
  REMARK    GeneRIF: Lis1-dynein drives corona compaction and limits erroneous
            microtubule attachment at kinetochores.
REFERENCE   2  (bases 1 to 5589)
  AUTHORS   Feng WM, Gong H, Wang YC, Wang Y, Xue T, Zhang T and Cui G.
  TITLE     NudCD1 as a prognostic marker in colorectal cancer and its role in
            the upregulation of cellular spindle assembly checkpoint genes and
            LIS1 pathways
  JOURNAL   BMC Cancer 22 (1), 981 (2022)
   PUBMED   36104662
  REMARK    GeneRIF: NudCD1 as a prognostic marker in colorectal cancer and its
            role in the upregulation of cellular spindle assembly checkpoint
            genes and LIS1 pathways. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5589)
  AUTHORS   Zhang YL, Jing XY, Zhen L, Pan M, Han J and Li DZ.
  TITLE     Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related
            lissencephaly: Ultrasonography and genetically investigative results
  JOURNAL   Eur J Obstet Gynecol Reprod Biol 274, 28-32 (2022)
   PUBMED   35567955
  REMARK    GeneRIF: Prenatal diagnosis of Miller-Dieker
            syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and
            genetically investigative results.
REFERENCE   4  (bases 1 to 5589)
  AUTHORS   Rolland M, Martin H, Bergamelli M, Sellier Y, Bessieres B, Aziza J,
            Benchoua A, Leruez-Ville M, Gonzalez-Dunia D and Chavanas S.
  TITLE     Human cytomegalovirus infection is associated with increased
            expression of the lissencephaly gene PAFAH1B1 encoding LIS1 in
            neural stem cells and congenitally infected brains
  JOURNAL   J Pathol 254 (1), 92-102 (2021)
   PUBMED   33565082
  REMARK    GeneRIF: Human cytomegalovirus infection is associated with
            increased expression of the lissencephaly gene PAFAH1B1 encoding
            LIS1 in neural stem cells and congenitally infected brains.
REFERENCE   5  (bases 1 to 5589)
  AUTHORS   Islam MA, Choi HJ, Dash R, Sharif SR, Oktaviani DF, Seog DH and Moon
            IS.
  TITLE     N-Acetyl-D-Glucosamine Kinase Interacts with NudC and Lis1 in Dynein
            Motor Complex and Promotes Cell Migration
  JOURNAL   Int J Mol Sci 22 (1), 129 (2020)
   PUBMED   33374456
  REMARK    GeneRIF: N-Acetyl-D-Glucosamine Kinase Interacts with NudC and Lis1
            in Dynein Motor Complex and Promotes Cell Migration. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 5589)
  AUTHORS   Mizuguchi M, Takashima S, Kakita A, Yamada M and Ikeda K.
  TITLE     Lissencephaly gene product. Localization in the central nervous
            system and loss of immunoreactivity in Miller-Dieker syndrome
  JOURNAL   Am J Pathol 147 (4), 1142-1151 (1995)
   PUBMED   7573359
REFERENCE   7  (bases 1 to 5589)
  AUTHORS   Golsteyn RM, Mundt KE, Fry AM and Nigg EA.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
REFERENCE   8  (bases 1 to 5589)
  AUTHORS   Hattori M, Adachi H, Tsujimoto M, Arai H and Inoue K.
  TITLE     Miller-Dieker lissencephaly gene encodes a subunit of brain
            platelet-activating factor acetylhydrolase [corrected]
  JOURNAL   Nature 370 (6486), 216-218 (1994)
   PUBMED   8028668
  REMARK    Erratum:[Nature 1994 Aug 4;370(6488):391]
REFERENCE   9  (bases 1 to 5589)
  AUTHORS   Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB,
            Caskey CT and Ledbetter DH.
  TITLE     Isolation of a Miller-Dieker lissencephaly gene containing G protein
            beta-subunit-like repeats
  JOURNAL   Nature 364 (6439), 717-721 (1993)
   PUBMED   8355785
REFERENCE   10  (bases 1 to 5589)
  AUTHORS   Brock,S., Dobyns,W.B. and Jansen,A.
  TITLE     PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301752
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.179163.1,
            SRR1660809.209848.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000397195.10/ ENSP00000380378.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC015799.23 and AC005696.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000430.3.
            Summary: This locus was identified as encoding a gene that when
            mutated or lost caused the lissencephaly associated with
            Miller-Dieker lissencephaly syndrome. This gene encodes the
            non-catalytic alpha subunit of the intracellular Ib isoform of
            platelet-activating factor acteylhydrolase, a heterotrimeric enzyme
            that specifically catalyzes the removal of the acetyl group at the
            SN-2 position of platelet-activating factor (identified as
            1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other
            isoforms of intracellular platelet-activating factor
            acetylhydrolase exist: one composed of multiple subunits, the
            other, a single subunit. In addition, a single-subunit isoform of
            this enzyme is found in serum. [provided by RefSeq, Apr 2009].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5589
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     gene            1..5589
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /note="platelet activating factor acetylhydrolase 1b
                     regulatory subunit 1"
                     /db_xref="GeneID:5048"
                     /db_xref="HGNC:HGNC:8574"
                     /db_xref="MIM:601545"
     misc_feature    454..456
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /note="upstream in-frame stop codon"
     CDS             544..1776
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /EC_number="3.1.1.47"
                     /note="lissencephaly 1 protein; platelet-activating factor
                     acetylhydrolase 1b, regulatory subunit 1 (45kDa)"
                     /codon_start=1
                     /product="platelet-activating factor acetylhydrolase IB
                     subunit beta"
                     /protein_id="NP_000421.1"
                     /db_xref="CCDS:CCDS32528.1"
                     /db_xref="GeneID:5048"
                     /db_xref="HGNC:HGNC:8574"
                     /db_xref="MIM:601545"
                     /translation="MVLSQRQRDELNRAIADYLRSNGYEEAYSVFKKEAELDVNEELDK
                     KYAGLLEKKWTSVIRLQKKVMELESKLNEAKEEFTSGGPLGQKRDPKEWIPRPPEKYAL
                     SGHRSPVTRVIFHPVFSVMVSASEDATIKVWDYETGDFERTLKGHTDSVQDISFDHSGK
                     LLASCSADMTIKLWDFQGFECIRTMHGHDHNVSSVAIMPNGDHIVSASRDKTIKMWEVQ
                     TGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVWVVATKECKAELREHEHVVEC
                     ISWAPESSYSSISEATGSETKKSGKPGPFLLSGSRDKTIKMWDVSTGMCLMTLVGHDNW
                     VRGVLFHSGGKFILSCADDKTLRVWDYKNKRCMKTLNAHEHFVTSLDFHKTAPYVVTGS
                     VDQTVKVWECR"
     misc_feature    544..849
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /note="propagated from UniProtKB/Swiss-Prot (P43034.2);
                     Region: Interaction with NDEL1.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03141"
     misc_feature    544..741
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /note="propagated from UniProtKB/Swiss-Prot (P43034.2);
                     Region: Interaction with NDE1.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03141"
     misc_feature    544..657
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /note="propagated from UniProtKB/Swiss-Prot (P43034.2);
                     Region: Required for self-association and interaction with
                     PAFAH1B2 and PAFAH1B3.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03141"
     misc_feature    700..702
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P43034.2); acetylation site"
     misc_feature    790..1773
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /note="propagated from UniProtKB/Swiss-Prot (P43034.2);
                     Region: Interaction with dynein and dynactin"
     misc_feature    868..870
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P43034.2); phosphorylation site"
     misc_feature    1642..1770
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /note="propagated from UniProtKB/Swiss-Prot (P43034.2);
                     Region: Interaction with DCX.
                     /evidence=ECO:0000269|PubMed:11001923"
     misc_feature    1705..1773
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /note="propagated from UniProtKB/Swiss-Prot (P43034.2);
                     Region: Interaction with NDEL1.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03141"
     regulatory      5570..5575
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /note="hexamer: ATTAAA"
     polyA_site      5589
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /note="major polyA site"
ORIGIN
        1 agacggagct ggagcggcgg ggcggcggcg gagtccggcg gccgggagag cgagtgagcg
       61 agcggaggag cagcgacacg ggagtctagg gagcgagaag gagaaggagg ggagcgctcg
      121 ggcgcgagcg agagaaaccg cgagcgccga gcttggactc gagccccgga acggctgagg
      181 agcccgcccg ctcccctccc ctccccctcc ccgggcccgg gcccagcgcg ccatcctccc
      241 ccctccttcc ctccctccct ccttcctccc tcccctctcc ctccccctcc cccgccggtg
      301 gatgggagtg aaggacggaa gaggccctgc ggaggcggcg gtgcagcgct ccggtggaat
      361 gaatcttact tgttgaatat cttctggtta ctagttggat tcatttgtga aagaatcatt
      421 ttcccctgtg tggaagacac ttagtggcat atttaaatta taagtccacg gatcaaaaag
      481 ctttttgatt tcccaaagga gggacatacc actatatcag ataagcttga cattacagcc
      541 aagatggtgc tgtcccagag acaacgagat gaactaaatc gagctatagc agattatctt
      601 cgttcaaatg gctatgaaga ggcatattca gtttttaaaa aggaagctga attagatgtg
      661 aatgaagaat tagataaaaa gtatgctggt cttttggaaa aaaaatggac atctgttatt
      721 agattacaaa agaaggttat ggaattagaa tcaaagctaa atgaagcaaa agaagaattt
      781 acgtcaggtg gacctcttgg tcagaaacga gacccaaaag aatggattcc ccgtccgcca
      841 gaaaaatatg cattgagtgg tcacaggagt ccagtcactc gagtcatttt ccatcctgtg
      901 ttcagtgtta tggtctctgc ttcagaggat gctacaatta aggtgtggga ttatgagact
      961 ggagattttg aacgaactct taaaggacat acagactctg tacaggacat ttcattcgac
     1021 cacagcggca agcttctggc ttcctgttct gcagatatga ccattaaact atgggatttt
     1081 cagggctttg aatgcatcag aaccatgcac ggccatgacc acaatgtttc ttcagtagcc
     1141 atcatgccca atggagatca tatagtgtct gcctcaaggg ataaaactat aaaaatgtgg
     1201 gaagtgcaaa ctggctactg tgtgaagaca ttcacaggac acagagaatg ggtacgtatg
     1261 gtacggccaa atcaagatgg cactctgata gccagctgtt ccaatgacca gactgtgcgt
     1321 gtatgggtcg tagcaacaaa ggaatgcaag gctgagctcc gagagcatga gcatgtggta
     1381 gaatgcattt cctgggctcc agaaagctca tattcctcca tctctgaagc aacaggatct
     1441 gagactaaaa aaagtggtaa acctgggcca ttcttgctgt ctggatccag agacaagact
     1501 attaagatgt gggatgtcag tactggcatg tgccttatga ccctcgtggg tcatgataac
     1561 tgggtacgtg gagttctgtt ccattctggg gggaagttta ttttgagttg tgctgatgac
     1621 aagaccctac gcgtatggga ttacaagaac aagcgatgca tgaagaccct caatgcgcat
     1681 gaacactttg ttacctcctt ggatttccac aagacggcac cctatgtcgt cactggcagc
     1741 gtagatcaaa cagtaaaagt gtgggagtgc cgttgattgt gtctccttcg gcccctcctc
     1801 cctcttttcc tctggatgca ctctgatgat accatggtta ccccattgag ctctgtttaa
     1861 ataaatattg tcctttcatg taaattattc tggatgtaga ttgagcttat taaatgttac
     1921 acacaaagta ttcatgcatg gtgaatccaa attgtatact gtaaatttac atacgttgtc
     1981 tagaagtacc atagggttta aaaacctggg ctggcattgg tcacaccagg cctaagaagg
     2041 cagaagttga atcaattgaa ctagggcact aaactgaata gttgacagtg tcattttatg
     2101 ttggattatt aattcctgtt tttctttctg ctatctgttg gtgcctgact tgatggcctc
     2161 atttggggaa aagtggtggt tattagggct ttttctgaaa tgtgtatcta tgtaacatca
     2221 cttaagtgtg cttaataaat cttctgtaag gattttagat gataaggcta caattcagaa
     2281 tcttctgaac catctatgta atgaatgggg attatacatt ggaatttttg tcatgacaca
     2341 tttgccaaat cagtaggata tatttgtttt ggcagcctat cacgcagagg ctagtggtat
     2401 atttatgtaa gaaaatgact gtaaatctca agaaaaatct cagcagctaa tagcaactca
     2461 tttatttcat tttggtctta atgctttgta aacaggtcaa aaaatactgt catactctaa
     2521 gcttctattt tccacactgg acatacttct agttgtattc tccatactat tagactgtgt
     2581 agtgatgtga cttccaagta gaatttaatc tccccattga gtgtgtcatg gtacaaatca
     2641 ctattcgttt ttggtgtttt ttagggatgt gcaatgtgca ttacataatg acagaaatac
     2701 tgagaaggtt ctgtgtgccc atttgaaagg agtgggagga atacagcagt ttgtttttca
     2761 acatgaatct gatattgatt taaactgtgt ttcacttaca agttttaaaa aaatgacagg
     2821 gtttaatgga gcgtgcataa aaatgtactg ttttcacctt ttgtttatat gtaaatgttt
     2881 gtaagtatat gggcctatct gtaagtggat aagtctgtat gtgtgtatca tacacatcaa
     2941 cctccatgtc cttagtcctg ggtttttgaa aaagtgctaa aacggacaag tagaataaat
     3001 gttgctgtgg aatgccatgc tttagaacaa accctttttg atcttaatgc ttctgaaaac
     3061 taggtctgac tctggggatt tttttccagc cgaaggaaaa tcacttccgt tatgtccccc
     3121 tctaatttag ccgctcgaca ttttacacaa cccggatatg ttgtatattt tgacccaaag
     3181 ttacaggtag gtttaagaga atttttagcc atgacttttg gagcactatt ccattgtcag
     3241 ttattaataa agaattccat tgcttagcta accaacaggt tttttttgtt tccaagagag
     3301 ttatttgaaa agttaacaga acaatgagat aacagtgaca gtttaacaaa gataaaattc
     3361 tgaactgcgt tttattcatt tgtgtactat gtgatttttt aaatgtcccc tttagtattt
     3421 aatggaaaat tggttcctgc aaaagacaaa gggtgagagt tagcgtcctg tagatacaca
     3481 cagagactag gccgtatatt aactagaagc agctttatgt ctagcttgtg tctttttgtt
     3541 tgtttgcttg tttgttttta gattcctgag agatgtctct ggaagggaaa gttttgagaa
     3601 ctaatggcta tttttgagga caaaaattac atcttaagct aattccttaa atacatacag
     3661 taggtgaatt ttcaggacaa tattgcctca caaccctgct tacattgaaa agtctttttc
     3721 ccttagctct tctgactgga tttttctaca aaaactatgg aaaatatctt tgttcttgtt
     3781 tgctgctatt ttctgtccta ttttgagaaa tataaataca tagaaatggt gcatcttaac
     3841 atttgtttgt acatgtataa atgtcttgta ttttaattca tttttagcat gaattgttta
     3901 agggtaagcc acaacatcta gaaatcactc atagatattg aacaataaag gagaatggta
     3961 ccgatgcagg aggaagcaag cgtgtcttcc cctgcagcac acagcgactt gcgttgacaa
     4021 aggaggagga aacgattact ctgtaaacaa agttatcctt acttgggaga ttgccacagc
     4081 ctgctgctga gttgagttac cagacatcct ccatgtgaga agcagcgaac attgaatctc
     4141 agggatggcc cacaactggg tccacatgta atgagccctg tttaataacg aaggggtggg
     4201 ggagagcagt ccgtctacaa cctggaatca gatttgcaaa atttcctgca ctgctgtctg
     4261 acactgtcct gttgatgccc tttctgactg tgttctctgt tttctctgtc tgctgtctaa
     4321 ccctgtgcct tgcctgggat aaggacaatg atgaggttac tggtttggat tgtaagtaga
     4381 ggacttttat taattggttt agaggttcac tgctgctttg tcactttctc aatcaaattg
     4441 gccacttaag aaataaagag ctggtagaat tgcatcctca gatgattatt gactgtgtgt
     4501 gtgtgtgaaa acagacattc cagtgccacc caaatatata tctgtaacgt gcccaagaaa
     4561 tcctagctgc gctcttgaga gtgcatgcca tggagactgg tttagacacc gcgtggagcc
     4621 tagttgcctg ttgtcacggc atcttgcact ttaggagact aagaccgtcc tggttcgtct
     4681 gtgtgtggtg tgaccaatgg tgtgcccaga gcactactct caaaatcact agtgttagca
     4741 agtcgtcccg ggctggggag cgttcgccgt agtctttgga agctttggct ttagatttac
     4801 caagccccgc ctccccgctg ccagtgccct gctctcccgt tcgcctcttt ctgtttctgt
     4861 gtgaactttc ccggtaatat cactcgttaa ataggttttc tttaaactta attaaagaaa
     4921 aactatttaa aggtaaagga tattttgttg acatcggtgg ctcgatcatc cttaagcaac
     4981 tgaagttaaa attgttgaag gaaaaggcac ttaaattggt tactttcatg tccagctgta
     5041 tataagtcca gtgtgttcat ctagatgacg caaagaatct cctggtagag aagcgacatg
     5101 taaaaaactg gtggaaaaag gttttggatt ttttttccag tggggtgggg ggagggcaag
     5161 ctggatttac aggtcacggc tggactgaat gggccttttt atcttcccac tgtatcatgg
     5221 aagtagctgc ttgcttgtac tgtccatcct tcaggcatcc ctaaagctca ctctgaagat
     5281 gttagagaca aacacaaact cttcgagtta aagttgatcc tgacactgac atgaaggcaa
     5341 gccttgattt cgtatgaacg ttgctgaagt ggtaattgag gaaaacagtt ccccagattg
     5401 ttaagagttc actgaagata ttgacacaat tttaaaaaat cagtaaagga atgtatataa
     5461 tattgctctc gtgttttaca gtaagatttg ttgctctcag actgtgtaaa acaaaattta
     5521 ttcatgtttt ctgcatatta aaaaatctta ttgtaccaac tggtaaacta ttaaatgcct
     5581 ataaaacta
//
LOCUS       NM_000431               2833 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens mevalonate kinase (MVK), transcript variant 1, mRNA.
ACCESSION   NM_000431
VERSION     NM_000431.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2833)
  AUTHORS   Hui HZ, Wang YJ, Cheng JR, Mao H, Guo HX and Shi BJ.
  TITLE     A novel missense mutation in the MVK gene is associated with
            disseminated superficial porokeratosis
  JOURNAL   Int J Dermatol 62 (4), e223-e225 (2023)
   PUBMED   36371681
  REMARK    GeneRIF: A novel missense mutation in the MVK gene is associated
            with disseminated superficial porokeratosis.
REFERENCE   2  (bases 1 to 2833)
  AUTHORS   Li L, Zuo N, Yang D, Zhang D, Feng Y and Li X.
  TITLE     Novel missense mutations of MVK and FDPS gene in Chinese patients
            with disseminated superficial actinic porokeratosis
  JOURNAL   Clin Chim Acta 523, 441-445 (2021)
   PUBMED   34751146
  REMARK    GeneRIF: Novel missense mutations of MVK and FDPS gene in Chinese
            patients with disseminated superficial actinic porokeratosis.
REFERENCE   3  (bases 1 to 2833)
  AUTHORS   Brennenstuhl H, Nashawi M, Schroter J, Baronio F, Beedgen L, Gleich
            F, Jeltsch K, von Landenberg C, Martini S, Simon A, Thiel C, Tsiakas
            K, Opladen T, Kolker S, Hoffmann GF and Haas D.
  CONSRTM   Unified Registry for Inherited Metabolic Disorders (U-IMD)
            Consortium and the European Registry for Hereditary Metabolic
            Disorders (MetabERN)
  TITLE     Phenotypic diversity, disease progression, and pathogenicity of MVK
            missense variants in mevalonic aciduria
  JOURNAL   J Inherit Metab Dis 44 (5), 1272-1287 (2021)
   PUBMED   34145613
  REMARK    GeneRIF: Phenotypic diversity, disease progression, and
            pathogenicity of MVK missense variants in mevalonic aciduria.
REFERENCE   4  (bases 1 to 2833)
  AUTHORS   Govindaraj GM, Jain A, Peethambaran G, Bhoyar RC, Vellarikkal SK,
            Ganapati A, Sandhya P, Edavazhippurath A, Dhanasooraj D,
            Puthenpurayil JM, Chakkiyar K, Mishra A, Batra A, Punnen A, Kumar S,
            Sivasubbu S and Scaria V.
  TITLE     Spectrum of clinical features and genetic variants in mevalonate
            kinase (MVK) gene of South Indian families suffering from
            Hyperimmunoglobulin D Syndrome
  JOURNAL   PLoS One 15 (8), e0237999 (2020)
   PUBMED   32822427
  REMARK    GeneRIF: Spectrum of clinical features and genetic variants in
            mevalonate kinase (MVK) gene of South Indian families suffering from
            Hyperimmunoglobulin D Syndrome. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2833)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 2833)
  AUTHORS   Graef E, Caselmann WH, Wells J and Koshy R.
  TITLE     Insertional activation of mevalonate kinase by hepatitis B virus DNA
            in a human hepatoma cell line
  JOURNAL   Oncogene 9 (1), 81-87 (1994)
   PUBMED   8302606
REFERENCE   7  (bases 1 to 2833)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
REFERENCE   8  (bases 1 to 2833)
  AUTHORS   Krisans SK.
  TITLE     The role of peroxisomes in cholesterol metabolism
  JOURNAL   Am J Respir Cell Mol Biol 7 (4), 358-364 (1992)
   PUBMED   1356376
  REMARK    Review article
REFERENCE   9  (bases 1 to 2833)
  AUTHORS   Schafer BL, Bishop RW, Kratunis VJ, Kalinowski SS, Mosley ST, Gibson
            KM and Tanaka RD.
  TITLE     Molecular cloning of human mevalonate kinase and identification of a
            missense mutation in the genetic disease mevalonic aciduria
  JOURNAL   J Biol Chem 267 (19), 13229-13238 (1992)
   PUBMED   1377680
REFERENCE   10  (bases 1 to 2833)
  AUTHORS   Kopito,R.R. and Brunengraber,H.
  TITLE     (R)-mevalonate excretion in human and rat urines
  JOURNAL   Proc Natl Acad Sci U S A 77 (10), 5738-5740 (1980)
   PUBMED   6255462
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.786103.1,
            SRR3476690.971180.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000228510.8/ ENSP00000228510.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC421549.1, M88468.1,
            BC016140.1, R51202.1 and AC007570.23.
            On Nov 22, 2018 this sequence version replaced NM_000431.3.
            Summary: This gene encodes the peroxisomal enzyme mevalonate
            kinase. Mevalonate is a key intermediate, and mevalonate kinase a
            key early enzyme, in isoprenoid and sterol synthesis. Mevalonate
            kinase deficiency caused by mutation of this gene results in
            mevalonic aciduria, a disease characterized psychomotor
            retardation, failure to thrive, hepatosplenomegaly, anemia and
            recurrent febrile crises. Defects in this gene also cause
            hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder
            characterized by recurrent episodes of fever associated with
            lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2014].
            Transcript Variant: This variant (1) encodes isoform a. Variants 1,
            2, and 4 all encode the same isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2833
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     gene            1..2833
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /note="mevalonate kinase"
                     /db_xref="GeneID:4598"
                     /db_xref="HGNC:HGNC:7530"
                     /db_xref="MIM:251170"
     CDS             95..1285
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /EC_number="2.7.1.36"
                     /note="isoform a is encoded by transcript variant 1; LH
                     receptor mRNA-binding protein; mevalonate kinase 1"
                     /codon_start=1
                     /product="mevalonate kinase isoform a"
                     /protein_id="NP_000422.1"
                     /db_xref="CCDS:CCDS9132.1"
                     /db_xref="GeneID:4598"
                     /db_xref="HGNC:HGNC:7530"
                     /db_xref="MIM:251170"
                     /translation="MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHS
                     NGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVT
                     ERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTVCEE
                     IPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKIS
                     SLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGE
                     MGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCG
                     ITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL"
     regulatory      1949..1954
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /note="hexamer: AATAAA"
     polyA_site      1971
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /note="major polyA site"
     regulatory      2798..2803
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /note="hexamer: CATAAA"
     polyA_site      2833
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
ORIGIN
        1 gctctgggtt gtgggagttg gggagctgct ccggcttcgg cgcggagggg cggcggccgg
       61 ggaggcggcg gcggcggcag gattcccagg agccatgttg tcagaagtcc tactggtgtc
      121 tgctccgggg aaagtcatcc ttcatggaga acatgccgtg gtacatggca aggtagcact
      181 ggctgtatcc ttgaacttga gaacattcct ccggcttcaa ccccacagca atgggaaagt
      241 ggacctcagc ttacccaaca ttggtatcaa gcgggcctgg gatgtggcca ggcttcagtc
      301 actggacaca agctttctgg agcaaggtga tgtcacaaca cccacctcag agcaagtgga
      361 gaagctaaag gaggttgcag gcttgcctga cgactgtgct gtcaccgagc gcctggctgt
      421 gctggccttt ctttacttat acctgtccat ctgccggaag cagagggccc tgccgagcct
      481 ggatatcgta gtgtggtcgg agctgccccc cggggcgggc ttgggctcca gcgccgccta
      541 ctcggtgtgt ctggcagcag ccctcctgac tgtgtgcgag gagatcccaa acccgctgaa
      601 ggacggggat tgcgtcaaca ggtggaccaa ggaggatttg gagctaatta acaagtgggc
      661 cttccaaggg gagagaatga ttcacgggaa cccctccgga gtggacaatg ctgtcagcac
      721 ctggggagga gccctccgat accatcaagg gaagatttca tccttaaaga ggtcgccagc
      781 tctccagatc ctgctgacca acaccaaagt ccctcgcaat accagggccc ttgtggctgg
      841 cgtcagaaac aggctgctca agttcccaga gatcgtggcc cccctcctga cctcaataga
      901 tgccatctcc ctggagtgtg agcgcgtgct gggagagatg ggggaagccc cagccccgga
      961 gcagtacctc gtgctggaag agctcattga catgaaccag caccatctga atgccctcgg
     1021 cgtgggccac gcctctctgg accagctctg ccaggtgacc agggcccgcg gacttcacag
     1081 caagctgact ggcgcaggcg gtggtggctg tggcatcaca ctcctcaagc cagggctgga
     1141 gcagccagaa gtggaggcca cgaagcaggc cctgaccagc tgtggctttg actgcttgga
     1201 aaccagcatc ggtgcccccg gcgtctccat ccactcagcc acctccctgg acagccgagt
     1261 ccagcaagcc ctggatggcc tctgagagga gcccacgaca ctgcagcccc acccagatgc
     1321 ccctttctgg attattctgg gggctgcagt tcgactctgt gctggccagc gagcgcccag
     1381 ctcctgacac tgctggagag gccccagccg cttggcgatg ccagccaagc tctgcagtcc
     1441 cagcggtggg acctagggag gcatggtctg ccctctgcat cctctggagc cagccgagca
     1501 ggaggcctag gagggtcctc tgagactcca gacctgaggc gagaagggct gcttccctga
     1561 agctcccaca gtcccatctg cttcaggccc ccgccttggc ctgtgttctt cctggccgcc
     1621 tgggtccaat gctcaggtgc tggggcctgg ttcccggaga agtgtgcctt ctctctccct
     1681 tttcagggac cgccccctgt ctctcagggc caggcctctc cctcctccag gaagccttcc
     1741 cctacccctt gtcgcccctc cctcccagag cacctgctgt ctgggtggct cactcagcac
     1801 ttggtgtggc cttcccttct acctagcggg atggggctcc cccaggggct gtcccggagg
     1861 cggtgggcct ggttaaataa ggcagggttt atatgcactt tcttccgatc tgtacctgag
     1921 aggtttgtgg aaaagatggc aaatggggaa taaaaagatt ttgtgtcaac agtagagact
     1981 ccaggccacc agcacctccc tctgtccctg tcccctctcc agctgtttcc tccatggagc
     2041 tcttcagcaa tggagggaaa tagggtttgg ggtcactttg ttgtgcgtct tggggatgag
     2101 gtggcttttc ccagatggcc cttgctggag agggactggg acacggctct cagtccatca
     2161 gcacaactct aggctgctgc tgcggaggga gaagttgagc ttcctagctc cagaatcaca
     2221 agcacccacg agagcacaga cctgtgtaag acaggaaagc agaacctgcc atcgctcctg
     2281 gggcgcgcct tcctttctga aatgaactgg ctggatggag aaaacagact caaatgttct
     2341 ggcccgggtg cctggcactc cccacccccg ccccccaccg gccctatttg aactttatat
     2401 tgcagtcagc ttggtgcttt ccgaaatgcc attagccatc aggaaaccct tgtagttggt
     2461 gccttgccag ccagaacctc tgggacccac ggacctgcaa agaggccgag tggaaaggtg
     2521 ggggccggcg cagggatttc aggatgaggt gaaagcgatt cagtgcgcgt ctgcccttgg
     2581 ccactagggg gcagctggcg gccttccctg ctgttgtctt cctgcagggt gagaggagca
     2641 ggagccgagc tccaccccca cgccagcctt gggcccggcc tgggatcact gctgggaacg
     2701 tgagagtgaa gggaggacgc ctaccccagc ttaacttgta gaaatggccc cagatcactg
     2761 atggctgttc cctgcccctt cccttcaaaa cacaacgcat aaagcagtaa tactaattaa
     2821 tactgaacgc tca
//
LOCUS       NM_000432                783 bp    mRNA    linear   PRI 19-MAR-2023
DEFINITION  Homo sapiens myosin light chain 2 (MYL2), transcript variant 1,
            mRNA.
ACCESSION   NM_000432
VERSION     NM_000432.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 783)
  AUTHORS   Yuan CC, Kazmierczak K, Liang J, Ma W, Irving TC and
            Szczesna-Cordary D.
  TITLE     Molecular basis of force-pCa relation in MYL2 cardiomyopathy mice:
            Role of the super-relaxed state of myosin
  JOURNAL   Proc Natl Acad Sci U S A 119 (8) (2022)
   PUBMED   35177471
  REMARK    GeneRIF: Molecular basis of force-pCa relation in MYL2
            cardiomyopathy mice: Role of the super-relaxed state of myosin.
REFERENCE   2  (bases 1 to 783)
  AUTHORS   Chao F, Song Z, Wang S, Ma Z, Zhuo Z, Meng T, Xu G and Chen G.
  TITLE     Novel circular RNA circSOBP governs amoeboid migration through the
            regulation of the miR-141-3p/MYPT1/p-MLC2 axis in prostate cancer
  JOURNAL   Clin Transl Med 11 (3), e360 (2021)
   PUBMED   33784000
  REMARK    GeneRIF: Novel circular RNA circSOBP governs amoeboid migration
            through the regulation of the miR-141-3p/MYPT1/p-MLC2 axis in
            prostate cancer.
REFERENCE   3  (bases 1 to 783)
  AUTHORS   Manivannan SN, Darouich S, Masmoudi A, Gordon D, Zender G, Han Z,
            Fitzgerald-Butt S, White P, McBride KL, Kharrat M and Garg V.
  TITLE     Novel frameshift variant in MYL2 reveals molecular differences
            between dominant and recessive forms of hypertrophic cardiomyopathy
  JOURNAL   PLoS Genet 16 (5), e1008639 (2020)
   PUBMED   32453731
  REMARK    GeneRIF: An autosomal recessive model of inheritance for MYL2
            loss-of-function variants in infantile Hypertrophic cardiomyopathy
            highlights the variant-specific molecular differences found in
            MYL2-associated cardiomyopathy. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 783)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 783)
  AUTHORS   De Bortoli M, Vio R, Basso C, Calore M, Minervini G, Angelini A,
            Melacini P, Vitiello L, Vazza G, Thiene G, Tosatto S, Corrado D,
            Iliceto S, Rampazzo A and Calore C.
  TITLE     Novel Missense Variant in MYL2 Gene Associated With Hypertrophic
            Cardiomyopathy Showing High Incidence of Restrictive Physiology
  JOURNAL   Circ Genom Precis Med 13 (2), e002824 (2020)
   PUBMED   32004434
  REMARK    GeneRIF: Novel Missense Variant in MYL2 Gene Associated With
            Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive
            Physiology.
REFERENCE   6  (bases 1 to 783)
  AUTHORS   Kovalyov LI, Shishkin SS, Efimochkin AS, Kovalyova MA, Ershova ES,
            Egorov TA and Musalyamov AK.
  TITLE     The major protein expression profile and two-dimensional protein
            database of human heart
  JOURNAL   Electrophoresis 16 (7), 1160-1169 (1995)
   PUBMED   7498159
REFERENCE   7  (bases 1 to 783)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301725
REFERENCE   8  (bases 1 to 783)
  AUTHORS   Wadgaonkar R, Shafiq S, Rajmanickam C and Siddiqui MA.
  TITLE     Interaction of a conserved peptide domain in recombinant human
            ventricular myosin light chain-2 with myosin heavy chain
  JOURNAL   Cell Mol Biol Res 39 (1), 13-26 (1993)
   PUBMED   8287067
REFERENCE   9  (bases 1 to 783)
  AUTHORS   Macera MJ, Szabo P, Wadgaonkar R, Siddiqui MA and Verma RS.
  TITLE     Localization of the gene coding for ventricular myosin regulatory
            light chain (MYL2) to human chromosome 12q23-q24.3
  JOURNAL   Genomics 13 (3), 829-831 (1992)
   PUBMED   1386340
REFERENCE   10  (bases 1 to 783)
  AUTHORS   Dalla Libera L, Hoffmann E, Floroff M and Jackowski G.
  TITLE     Isolation and nucleotide sequence of the cDNA encoding human
            ventricular myosin light chain 2
  JOURNAL   Nucleic Acids Res 17 (6), 2360 (1989)
   PUBMED   2704627
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC031008.1, BU193625.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2151741,
            SAMEA2154361 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000228841.15/ ENSP00000228841.8
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC015821.1.
            On Nov 30, 2019 this sequence version replaced NM_000432.3.
            Summary: This gene encodes a major sarcomeric protein in mammalian
            striated muscle. The encoded protein plays a role in embryonic
            heart muscle structure and function, while phosphorylation of the
            encoded protein is involved in cardiac myosin cycling kinetics,
            torsion and function in adults. Mutations in this gene are
            associated with hypertrophic cardiomyopathy 10 and infant-onset
            myopathy. [provided by RefSeq, May 2022].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..783
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     gene            1..783
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v; MLC2"
                     /note="myosin light chain 2"
                     /db_xref="GeneID:4633"
                     /db_xref="HGNC:HGNC:7583"
                     /db_xref="MIM:160781"
     CDS             51..551
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v; MLC2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     myosin, light polypeptide 2, regulatory, cardiac, slow;
                     slow cardiac myosin regulatory light chain 2; T160D myosin
                     regulatory light chain 2; cardiac ventricular myosin light
                     chain 2; regulatory light chain of myosin; RLC of myosin;
                     cardiac myosin light chain 2; myosin, light chain 2,
                     regulatory, cardiac, slow; S15D myosin regulatory light
                     chain 2"
                     /codon_start=1
                     /product="myosin regulatory light chain 2,
                     ventricular/cardiac muscle isoform isoform 1"
                     /protein_id="NP_000423.2"
                     /db_xref="CCDS:CCDS31901.1"
                     /db_xref="GeneID:4633"
                     /db_xref="HGNC:HGNC:7583"
                     /db_xref="MIM:160781"
                     /translation="MAPKKAKKRAGGANSNVFSMFEQTQIQEFKEAFTIMDQNRDGFID
                     KNDLRDTFAALGRVNVKNEEIDEMIKEAPGPINFTVFLTMFGEKLKGADPEETILNAFK
                     VFDPEGKGVLKADYVREMLTTQAERFSKEEVDQMFAAFPPDVTGNLDYKNLVHIITHGE
                     EKD"
     misc_feature    54..56
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v; MLC2"
                     /note="N,N,N-trimethylalanine.
                     /evidence=ECO:0000250|UniProtKB:P51667; propagated from
                     UniProtKB/Swiss-Prot (P10916.3); methylation site"
     misc_feature    93..95
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v; MLC2"
                     /note="Phosphoserine, by ZIPK/DAPK3.
                     /evidence=ECO:0000269|PubMed:20038585,
                     ECO:0000269|PubMed:20445002; propagated from
                     UniProtKB/Swiss-Prot (P10916.3); phosphorylation site"
     misc_feature    105..107
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v; MLC2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P51667; propagated from
                     UniProtKB/Swiss-Prot (P10916.3); phosphorylation site"
     misc_feature    204..206
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v; MLC2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P08733; propagated from
                     UniProtKB/Swiss-Prot (P10916.3); phosphorylation site"
     regulatory      764..769
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v; MLC2"
                     /note="hexamer: AATAAA"
     polyA_site      783
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v; MLC2"
                     /note="major polyA site"
ORIGIN
        1 gggcggagtg tggaattctt ctcgggaggc agtgctgggt cctttccacc atggcaccta
       61 agaaagcaaa gaagagagcc gggggcgcca actccaacgt gttctccatg ttcgaacaga
      121 cccaaatcca ggaatttaag gaggccttca ctatcatgga ccagaacagg gatggcttca
      181 ttgacaagaa cgatctgaga gacacctttg ctgcccttgg gcgagtgaac gtgaaaaatg
      241 aagaaattga tgaaatgatc aaggaggctc cgggtccaat taactttact gtgttcctca
      301 caatgtttgg ggagaaactt aagggagcgg accctgagga aaccattctc aacgcattca
      361 aagtgtttga ccctgaaggc aaaggggtgc tgaaggctga ttacgttcgg gaaatgctga
      421 ccacgcaggc ggagaggttt tccaaggagg aggttgacca gatgttcgcc gccttccccc
      481 ctgacgtgac tggcaacttg gactacaaga acctggtgca catcatcacc cacggagaag
      541 agaaggacta ggagggggct cgctgctgcg ccctgggctc gtctttgcag agtggtccct
      601 gccctcatct ctctcccccg agtaccgcct ctgtccctac cttgtctgtt agccatgtgg
      661 ctgccccatt tatccacctc catcttcttt gcagcctggg tggctatggg tacttcgtgg
      721 ccgcacatcc tacagttgga aatccatcca gaggccatgt tccaataaac aggaggtcgt
      781 gta
//
LOCUS       NM_000433               2267 bp    mRNA    linear   PRI 23-MAR-2023
DEFINITION  Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript
            variant 1, mRNA.
ACCESSION   NM_000433
VERSION     NM_000433.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2267)
  AUTHORS   Bakutenko IY, Haurylchyk ID, Nikitchenko NV, Sechko EV, Kozyro IA,
            Tchitchko AM, Batyan GM, Sukalo AV and Ryabokon NI.
  TITLE     Neutrophil cytosolic factor 2 (NCF2) gene polymorphism is associated
            with juvenile-onset systemic lupus erythematosus, but probably not
            with other autoimmune rheumatic diseases in children
  JOURNAL   Mol Genet Genomic Med 10 (1), e1859 (2022)
   PUBMED   34971477
  REMARK    GeneRIF: Neutrophil cytosolic factor 2 (NCF2) gene polymorphism is
            associated with juvenile-onset systemic lupus erythematosus, but
            probably not with other autoimmune rheumatic diseases in children.
REFERENCE   2  (bases 1 to 2267)
  AUTHORS   Chen Y, He F, Wang R, Yao M, Li Y, Guo D and He S.
  TITLE     NCF1/2/4 Are Prognostic Biomarkers Related to the Immune
            Infiltration of Kidney Renal Clear Cell Carcinoma
  JOURNAL   Biomed Res Int 2021, 5954036 (2021)
   PUBMED   34708124
  REMARK    GeneRIF: NCF1/2/4 Are Prognostic Biomarkers Related to the Immune
            Infiltration of Kidney Renal Clear Cell Carcinoma. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 2267)
  AUTHORS   Yang S, Tang D, Zhao YC, Liu H, Luo S, Stinchcombe TE, Glass C, Su
            L, Shen S, Christiani DC, Wang Q and Wei Q.
  TITLE     Potentially functional variants of ERAP1, PSMF1 and NCF2 in the
            MHC-I-related pathway predict non-small cell lung cancer survival
  JOURNAL   Cancer Immunol Immunother 70 (10), 2819-2833 (2021)
   PUBMED   33651148
  REMARK    GeneRIF: Potentially functional variants of ERAP1, PSMF1 and NCF2 in
            the MHC-I-related pathway predict non-small cell lung cancer
            survival.
REFERENCE   4  (bases 1 to 2267)
  AUTHORS   Wang D, Liu J, Chen Q, Yang R and Jiang Q.
  TITLE     Upregulation of glutaminase 2 and neutrophil cytosolic factor 2 is
            associated with the poor prognosis of glioblastoma
  JOURNAL   Biomark Med 14 (16), 1585-1597 (2020)
   PUBMED   33179520
  REMARK    GeneRIF: Upregulation of glutaminase 2 and neutrophil cytosolic
            factor 2 is associated with the poor prognosis of glioblastoma.
REFERENCE   5  (bases 1 to 2267)
  AUTHORS   Gauss KA, Bunger PL and Quinn MT.
  TITLE     AP-1 is essential for p67(phox) promoter activity
  JOURNAL   J Leukoc Biol 71 (1), 163-172 (2002)
   PUBMED   11781392
REFERENCE   6  (bases 1 to 2267)
  AUTHORS   Prigmore E, Ahmed S, Best A, Kozma R, Manser E, Segal AW and Lim L.
  TITLE     A 68-kDa kinase and NADPH oxidase component p67phox are targets for
            Cdc42Hs and Rac1 in neutrophils
  JOURNAL   J Biol Chem 270 (18), 10717-10722 (1995)
   PUBMED   7738010
REFERENCE   7  (bases 1 to 2267)
  AUTHORS   Leiding,J.W. and Holland,S.M.
  TITLE     Chronic Granulomatous Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   22876374
REFERENCE   8  (bases 1 to 2267)
  AUTHORS   Kenney RT and Leto TL.
  TITLE     A HindIII polymorphism in the human NCF2 gene
  JOURNAL   Nucleic Acids Res 18 (23), 7193 (1990)
   PUBMED   1979859
REFERENCE   9  (bases 1 to 2267)
  AUTHORS   Francke U, Hsieh CL, Foellmer BE, Lomax KJ, Malech HL and Leto TL.
  TITLE     Genes for two autosomal recessive forms of chronic granulomatous
            disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1)
  JOURNAL   Am J Hum Genet 47 (3), 483-492 (1990)
   PUBMED   2393022
REFERENCE   10  (bases 1 to 2267)
  AUTHORS   Leto TL, Lomax KJ, Volpp BD, Nunoi H, Sechler JM, Nauseef WM, Clark
            RA, Gallin JI and Malech HL.
  TITLE     Cloning of a 67-kD neutrophil oxidase factor with similarity to a
            noncatalytic region of p60c-src
  JOURNAL   Science 248 (4956), 727-730 (1990)
   PUBMED   1692159
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC001606.1, AF527950.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367535.8/ ENSP00000356505.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC001606.1, BP193903.1,
            AK312666.1 and BU617086.1.
            On Dec 4, 2019 this sequence version replaced NM_000433.3.
            Summary: This gene encodes neutrophil cytosolic factor 2, the
            67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase
            complex found in neutrophils. This oxidase produces a burst of
            superoxide which is delivered to the lumen of the neutrophil
            phagosome. Mutations in this gene, as well as in other NADPH
            oxidase subunits, can result in chronic granulomatous disease, a
            disease that causes recurrent infections by catalase-positive
            organisms. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Jun
            2010].
            Transcript Variant: This variant (1) and variant 2 encode the same
            protein (isoform 1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2267
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.3"
     gene            1..2267
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /note="neutrophil cytosolic factor 2"
                     /db_xref="GeneID:4688"
                     /db_xref="HGNC:HGNC:7661"
                     /db_xref="MIM:608515"
     misc_feature    44..46
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /note="upstream in-frame stop codon"
     CDS             131..1711
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /note="isoform 1 is encoded by transcript variant 1;
                     neutrophil cytosolic factor 2 (65kD, chronic granulomatous
                     disease, autosomal 2); NADPH oxidase activator 2;
                     neutrophil cytosol factor 2; 67 kDa neutrophil oxidase
                     factor; neutrophil NADPH oxidase factor 2"
                     /codon_start=1
                     /product="neutrophil cytosol factor 2 isoform 1"
                     /protein_id="NP_000424.2"
                     /db_xref="CCDS:CCDS1356.1"
                     /db_xref="GeneID:4688"
                     /db_xref="HGNC:HGNC:7661"
                     /db_xref="MIM:608515"
                     /translation="MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIGC
                     MYTILKNMTEAEKAFTRSINRDKHLAVAYFQRGMLYYQTEKYDLAIKDLKEALIQLRGN
                     QLIDYKILGLQFKLFACEVLYNIAFMYAKKEEWKKAEEQLALATSMKSEPRHSKIDKAM
                     ECVWKQKLYEPVVIPVGKLFRPNERQVAQLAKKDYLGKATVVASVVDQDSFSGFAPLQP
                     QAAEPPPRPKTPEIFRALEGEAHRVLFGFVPETKEELQVMPGNIVFVLKKGNDNWATVM
                     FNGQKGLVPCNYLEPVELRIHPQQQPQEESSPQSDIPAPPSSKAPGRPQLSPGQKQKEE
                     PKEVKLSVPMPYTLKVHYKYTVVMKTQPGLPYSQVRDMVSKKLELRLEHTKLSYRPRDS
                     NELVPLSEDSMKDAWGQVKNYCLTLWCENTVGDQGFPDEPKESEKADANNQTTEPQLKK
                     GSQVEALFSYEATQPEDLEFQEGDIILVLSKVNEEWLEGECKGKVGIFPKVFVEDCATT
                     DLESTRREV"
     misc_feature    239..340
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /note="propagated from UniProtKB/Swiss-Prot (P19878.2);
                     Region: TPR 1"
     misc_feature    341..442
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /note="propagated from UniProtKB/Swiss-Prot (P19878.2);
                     Region: TPR 2"
     misc_feature    491..592
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /note="propagated from UniProtKB/Swiss-Prot (P19878.2);
                     Region: TPR 3"
     misc_feature    827..829
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:O70145; propagated from
                     UniProtKB/Swiss-Prot (P19878.2); phosphorylation site"
     misc_feature    1037..1168
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /note="propagated from UniProtKB/Swiss-Prot (P19878.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1325..1327
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O70145; propagated from
                     UniProtKB/Swiss-Prot (P19878.2); phosphorylation site"
     misc_feature    1427..1504
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /note="propagated from UniProtKB/Swiss-Prot (P19878.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2241..2246
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /note="hexamer: AATAAA"
     polyA_site      2267
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /note="major polyA site"
ORIGIN
        1 attctactca tctggcccag aaagtgaaca ccttgggggc cactaaggca gccctgctag
       61 gggagacgct ccaacctgtc ttctctctgt ctcctggcag ctctcttggc ctcctagttt
      121 ctacctaatc atgtccctgg tggaggccat cagcctctgg aatgaagggg tgctggcagc
      181 ggacaagaag gactggaagg gagccctgga tgccttcagt gccgtccagg acccccactc
      241 ccggatttgc ttcaacattg gctgcatgta cactatcctg aagaacatga ctgaagcaga
      301 gaaggccttt accagaagca ttaaccgaga caagcacttg gcagtggctt acttccaacg
      361 agggatgctc tactaccaga cagagaaata tgatttggct atcaaagacc ttaaagaagc
      421 cttgattcag cttcgaggga accagctgat agactataag atcctggggc tccagttcaa
      481 gctgtttgcc tgtgaggtgt tatataacat tgctttcatg tatgccaaga aggaggaatg
      541 gaaaaaagct gaagaacagt tagcattggc cacgagcatg aagtctgagc ccagacattc
      601 caaaatcgac aaggcgatgg agtgtgtctg gaagcagaag ctatatgagc cagtggtgat
      661 ccctgtgggc aagctgtttc gaccaaatga gagacaagtg gctcagctgg ccaagaagga
      721 ttacctaggc aaggcgacgg tcgtggcatc tgtggtggat caagacagtt tctctgggtt
      781 tgcccctctg caaccacagg cagctgagcc tccacccaga ccgaaaaccc cagagatctt
      841 cagggctctg gaaggggagg ctcaccgtgt gctatttggg tttgtgcctg agacaaaaga
      901 agagctccag gtcatgccag ggaacattgt ctttgtcttg aagaagggca atgataactg
      961 ggccacggtc atgttcaacg ggcagaaggg gcttgttccc tgcaactacc ttgaaccagt
     1021 tgagctgcgg atccaccctc agcagcagcc ccaggaggaa agctctccgc agtccgacat
     1081 cccagctcct cctagttcca aagcccctgg aagaccccag ctgtcaccag gccagaaaca
     1141 aaaagaagag cctaaggaag tgaagctcag tgttcccatg ccctacacac tcaaggtgca
     1201 ctacaagtac acggtagtca tgaagactca gcccgggctc ccctacagcc aggtccggga
     1261 catggtgtct aagaaactgg agctccggct ggaacacact aagctgagct atcggcctcg
     1321 ggacagcaat gagctggtgc ccctttcaga agacagcatg aaggatgcct ggggccaggt
     1381 gaaaaactac tgcctgactc tgtggtgtga gaacacagtg ggtgaccaag gctttccaga
     1441 tgaacccaag gaaagtgaaa aagctgatgc taataaccag acaacagaac ctcagcttaa
     1501 gaaaggcagc caagtggagg cactcttcag ttatgaggct acccaaccag aggacctgga
     1561 gtttcaggaa ggggatataa tcctggtgtt atcaaaggtg aatgaagaat ggctggaagg
     1621 ggagtgcaaa gggaaggtgg gcattttccc caaagttttt gttgaagact gcgcaactac
     1681 agatttggaa agcactcgga gagaagtcta ggatgtttca caaactacaa agctgaagaa
     1741 aatgaagccc tattacttgt ttgtaagatt tagcaccctt ctgctgtata ctgtactgag
     1801 acattacagt ttggaagtgt taactattta ttccctgtta aaatttaacc tactagacaa
     1861 tgatgtgagt acccaggatg atttcctggg gcacagtggg tgaggagatg gggacaggtg
     1921 aatggaggag ttaggggaga ggaaaagtgg atggaagtgt ctggaaaggg cacgagagag
     1981 tcttccaggt actgatcctg tttcttgctc tgagtgctag ctagccagct gtgttcacac
     2041 tgtaaacatt catcaagctg tacatttggt gcacttttct gtgtcatacc acaataaaaa
     2101 aaaacctagc atcttacaaa aacaagacac ccaagtccag gcccaaggag taagtacaaa
     2161 tattcctgtt tctgaaccat tactgtaatt ggctcttaag gcttgaagta accttatagg
     2221 ttactcataa ggcatataca aataaacttg tttgttttct tttttca
//
LOCUS       NM_000434               3353 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens neuraminidase 1 (NEU1), mRNA.
ACCESSION   NM_000434
VERSION     NM_000434.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3353)
  AUTHORS   Baeza-Kallee N, Berges R, Hein V, Cabaret S, Garcia J, Gros A,
            Tabouret E, Tchoghandjian A, Colin C and Figarella-Branger D.
  TITLE     Deciphering the Action of Neuraminidase in Glioblastoma Models
  JOURNAL   Int J Mol Sci 24 (14), 11645 (2023)
   PUBMED   37511403
  REMARK    GeneRIF: Deciphering the Action of Neuraminidase in Glioblastoma
            Models. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3353)
  AUTHORS   Youn SE, Jiang F, Won HY, Hong DE, Kang TH, Park YY and Koh SS.
  TITLE     PAUF Induces Migration of Human Pancreatic Cancer Cells Exclusively
            via the TLR4/MyD88/NF-kappaB Signaling Pathway
  JOURNAL   Int J Mol Sci 23 (19), 11414 (2022)
   PUBMED   36232715
  REMARK    GeneRIF: PAUF Induces Migration of Human Pancreatic Cancer Cells
            Exclusively via the TLR4/MyD88/NF-kappaB Signaling Pathway.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3353)
  AUTHORS   Garcia-Dominguez DJ, Hajji N, Lopez-Alemany R, Sanchez-Molina S,
            Figuerola-Bou E, Moron Civanto FJ, Rello-Varona S, Andres-Leon E,
            Benito A, Keun HC, Mora J, Tirado OM, de Alava E and
            Hontecillas-Prieto L.
  TITLE     Selective histone methyltransferase G9a inhibition reduces
            metastatic development of Ewing sarcoma through the epigenetic
            regulation of NEU1
  JOURNAL   Oncogene 41 (18), 2638-2650 (2022)
   PUBMED   35354905
  REMARK    GeneRIF: Selective histone methyltransferase G9a inhibition reduces
            metastatic development of Ewing sarcoma through the epigenetic
            regulation of NEU1.
REFERENCE   4  (bases 1 to 3353)
  AUTHORS   Kunzel SE, Burgel T, Kunzel SH, Pohlmann D, Zeitz O, Joussen A and
            Dubrac A.
  TITLE     LOW VULNERABILITY OF THE POSTERIOR EYE SEGMENT TO SARS-COV-2
            INFECTION: Chorioretinal SARS-CoV-2 Vulnerability
  JOURNAL   Retina 42 (2), 236-243 (2022)
   PUBMED   35050927
  REMARK    GeneRIF: LOW VULNERABILITY OF THE POSTERIOR EYE SEGMENT TO
            SARS-COV-2 INFECTION: Chorioretinal SARS-CoV-2 Vulnerability.
REFERENCE   5  (bases 1 to 3353)
  AUTHORS   Haxho F, Neufeld RJ and Szewczuk MR.
  TITLE     Neuraminidase-1: a novel therapeutic target in multistage
            tumorigenesis
  JOURNAL   Oncotarget 7 (26), 40860-40881 (2016)
   PUBMED   27029067
  REMARK    GeneRIF: neuraminidase-1 (Neu1) in complex with matrix
            metalloproteinase-9 and G protein-coupled receptor tethered to RTKs
            and TLRs is identified as a major target in multistage tumorigenesis
            [review] Review article
REFERENCE   6  (bases 1 to 3353)
  AUTHORS   Miyagi T and Yamaguchi K.
  TITLE     Mammalian sialidases: physiological and pathological roles in
            cellular functions
  JOURNAL   Glycobiology 22 (7), 880-896 (2012)
   PUBMED   22377912
  REMARK    Review article
REFERENCE   7  (bases 1 to 3353)
  AUTHORS   Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I and
            Pshezhetsky AV.
  TITLE     Molecular pathology of NEU1 gene in sialidosis
  JOURNAL   Hum Mutat 22 (5), 343-352 (2003)
   PUBMED   14517945
  REMARK    GeneRIF: Summary of NEU1 mutations found in sialidosis patients.
            Review article
REFERENCE   8  (bases 1 to 3353)
  AUTHORS   Okamura-Oho Y, Zhang S and Callahan JW.
  TITLE     The biochemistry and clinical features of galactosialidosis
  JOURNAL   Biochim Biophys Acta 1225 (3), 244-254 (1994)
   PUBMED   8312369
  REMARK    Review article
REFERENCE   9  (bases 1 to 3353)
  AUTHORS   Verheijen,F.W., Palmeri,S. and Galjaard,H.
  TITLE     Purification and partial characterization of lysosomal neuraminidase
            from human placenta
  JOURNAL   Eur J Biochem 162 (1), 63-67 (1987)
   PUBMED   3102233
REFERENCE   10  (bases 1 to 3353)
  AUTHORS   Verheijen,F.W., Palmeri,S., Hoogeveen,A.T. and Galjaard,H.
  TITLE     Human placental neuraminidase. Activation, stabilization and
            association with beta-galactosidase and its protective protein
  JOURNAL   Eur J Biochem 149 (2), 315-321 (1985)
   PUBMED   3922758
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC000722.2, X78687.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375631.5/ ENSP00000364782.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC000722.2, CA428930.1 and
            AL671762.10.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000434.3.
            Summary: The protein encoded by this gene is a lysosomal enzyme
            that cleaves terminal sialic acid residues from substrates such as
            glycoproteins and glycolipids. In the lysosome, this enzyme is part
            of a heterotrimeric complex together with beta-galactosidase and
            cathepsin A (the latter is also referred to as 'protective
            protein'). Mutations in this gene can lead to sialidosis, a
            lysosomal storage disease that can be type 1 (cherry red
            spot-myoclonus syndrome or normosomatic type), which is late-onset,
            or type 2 (the dysmorphic type), which occurs at an earlier age
            with increased severity. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3353
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..3353
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="neuraminidase 1"
                     /db_xref="GeneID:4758"
                     /db_xref="HGNC:HGNC:7758"
                     /db_xref="MIM:608272"
     misc_feature    13..15
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="upstream in-frame stop codon"
     CDS             46..1293
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /EC_number="3.2.1.18"
                     /note="exo-alpha-sialidase; lysosomal sialidase;
                     N-acetyl-alpha-neuraminidase 1; acetylneuraminyl hydrolase;
                     G9 sialidase; sialidase 1 (lysosomal sialidase)"
                     /codon_start=1
                     /product="sialidase-1 precursor"
                     /protein_id="NP_000425.1"
                     /db_xref="CCDS:CCDS4723.1"
                     /db_xref="GeneID:4758"
                     /db_xref="HGNC:HGNC:7758"
                     /db_xref="MIM:608272"
                     /translation="MTGERPSTALPDRRWGPRILGFWGGCRVWVFAAIFLLLSLAASWS
                     KAENDFGLVQPLVTMEQLLWVSGRQIGSVDTFRIPLITATPRGTLLAFAEARKMSSSDE
                     GAKFIALRRSMDQGSTWSPTAFIVNDGDVPDGLNLGAVVSDVETGVVFLFYSLCAHKAG
                     CQVASTMLVWSKDDGVSWSTPRNLSLDIGTEVFAPGPGSGIQKQREPRKGRLIVCGHGT
                     LERDGVFCLLSDDHGASWRYGSGVSGIPYGQPKQENDFNPDECQPYELPDGSVVINARN
                     QNNYHCHCRIVLRSYDACDTLRPRDVTFDPELVDPVVAAGAVVTSSGIVFFSNPAHPEF
                     RVNLTLRWSFSNGTSWRKETVQLWPGPSGYSSLATLEGSMDGEEQAPQLYVLYEKGRNH
                     YTESISVAKISVYGTL"
     sig_peptide     46..186
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
     mat_peptide     187..1290
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /product="sialidase-1"
     misc_feature    274..285
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99519.1);
                     Region: FRIP motif"
     misc_feature    379..414
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99519.1);
                     Region: BNR 1"
     misc_feature    559..594
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99519.1);
                     Region: BNR 2"
     misc_feature    601..603
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q99519.1); glycosylation site"
     misc_feature    736..771
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99519.1);
                     Region: BNR 3"
     misc_feature    1072..1074
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q99519.1); glycosylation site"
     misc_feature    1084..1119
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99519.1);
                     Region: BNR 4"
     misc_feature    1099..1101
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q99519.1); glycosylation site"
     misc_feature    1279..1290
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99519.1);
                     Region: Internalization signal"
     regulatory      1789..1794
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="hexamer: AATGAA"
     regulatory      1799..1804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="hexamer: AATGAA"
     polyA_site      1809
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
                     /note="major polyA site"
     polyA_site      1837
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
     polyA_site      1960
                     /gene="NEU1"
                     /gene_synonym="NANH; NEU; SIAL1"
ORIGIN
        1 ctctgtggag tctagctgcc agggtcgcgg cagctgcggg gagagatgac tggggagcga
       61 cccagcacgg cgctcccgga cagacgctgg gggccgcgga ttctgggctt ctggggaggc
      121 tgtagggttt gggtgtttgc cgcgatcttc ctgctgctgt ctctggcagc ctcctggtcc
      181 aaggctgaga acgacttcgg tctggtgcag ccgctggtga ccatggagca actgctgtgg
      241 gtgagcggga gacagatcgg ctcagtggac accttccgca tcccgctcat cacagccact
      301 ccgcggggca ctcttctcgc ctttgctgag gcgaggaaaa tgtcctcatc cgatgagggg
      361 gccaagttca tcgccctgcg gaggtccatg gaccagggca gcacatggtc tcctacagcg
      421 ttcattgtca atgatgggga tgtccccgat gggctgaacc ttggggcagt agtgagcgat
      481 gttgagacag gagtagtatt tcttttctac tccctttgtg ctcacaaggc cggctgccag
      541 gtggcctcta ccatgttggt atggagcaag gatgatggtg tttcctggag cacaccccgg
      601 aatctctccc tggatattgg cactgaagtg tttgcccctg gaccgggctc tggtattcag
      661 aaacagcggg agccacggaa gggccgcctc atcgtgtgtg gccatgggac gctggagcgg
      721 gacggagtct tctgtctcct cagcgatgat catggtgcct cctggcgcta cggaagtggg
      781 gtcagcggca tcccctacgg tcagcccaag caggaaaatg atttcaatcc tgatgaatgc
      841 cagccctatg agctcccaga tggctcagtc gtcatcaatg cccgaaacca gaacaactac
      901 cactgccact gccgaattgt cctccgcagc tatgatgcct gtgatacact aaggccccgt
      961 gatgtgacct tcgaccctga gctcgtggac cctgtggtag ctgcaggagc tgtagtcacc
     1021 agctccggca ttgtcttctt ctccaaccca gcacatccag agttccgagt gaacctgacc
     1081 ctgcgatgga gcttcagcaa tggtacctca tggcggaaag agacagtcca gctatggcca
     1141 ggccccagtg gctattcatc cctggcaacc ctggagggca gcatggatgg agaggagcag
     1201 gccccccagc tctacgtcct gtatgagaaa ggccggaacc actacacaga gagcatctcc
     1261 gtggccaaaa tcagtgtcta tgggacactc tgagctgtgc cactgccaca ggggtattct
     1321 gccttcagga ctctgccttc aggaacacgg gtctgtagag ggtctgctgg agacgcctga
     1381 aagacagttc catcttcctt tagactccag ccttggcaaa atcaccttcc ctttaccagg
     1441 gaaatcactt cctttaggac tgaaagctag gcgtcctctc ccacaaaaaa gtcctgccct
     1501 catctgagaa tactgtcttt ccatatggct aagtgtggcc ccaccaccct ctctgccctc
     1561 ccgggacatt gattggtcct gtcttgggca ggtctagtga gctgtagaat tgaatcaatg
     1621 tgaactcagg gaactgggga aggctgagcc tcctctttgg tgttgcggta agataaccga
     1681 cagggctggt gaaagtcccc agatggcagg atatttggtt tcagagtaag gactaggtgc
     1741 accaccatga ctgactatca atcaaaatgt ttgtaactta aaatttttaa tgaaggataa
     1801 tgaatatttg tagagtctct atggttctgt caatgcacat cttcgtgtct gttttcctca
     1861 tgtatccttg tgagcctggg tgagttctgg ggagagacct gatgtgcgta ctgcctgtga
     1921 aaatctgact ttggcaaatc aaatcctctt ttccttttga catgccctct ttttttgttg
     1981 ttgctttttt tgagacaggg ctcgctctgt cacccaggct ggagtgcagt tgcacaatca
     2041 cggctcactg aagcctcaac ctcctgggct caagtgatcc tcacgtctca gcctccggag
     2101 tagttgggac tacaggtcag tgacaccatg cctggttaat ttttttaatt tttattttca
     2161 gtagagacaa ggttgcgcta tgttgcccag gctggtatgg aactcctgtg cttaagcaat
     2221 cctcatgcct cagcttccca aagtgctgag gttacagcta tgagccaccg cacccagcct
     2281 acattccttc ttatcaccga gaaacaggtt gatcttcaca ggtgtaatga gtatgaaggg
     2341 agtgccataa gatatttttt attttttatt tatttatttt ttaatttaat tttttttttt
     2401 ttgagatgga gtcttgctct ggcacccagg ctagagtgca gtggtgcgat ctcggctcac
     2461 tgcaacctct gcctcccagg ttcaagcgat tcttctgcct cagcttcccg aatagctggg
     2521 attacaggtg cccaccacca cacccggcta atttttgtat ttttagtaga gacggagttt
     2581 caccatgttg gccaggctgg tctcaaactc ctggcctcag gtgatccacc cgcctcggcc
     2641 tcccaaagtg ttgtgattac aagcatgagc catggtgccg gcgggctgat ttttttaatt
     2701 tttagtagag acaaagtctc actatattgc ctaggttggt ctcaaactgc tgagctcaag
     2761 caatctgccg gccatgttct ctcaaagtgc tgggattaca ggcttgagcc cctgcaccca
     2821 gcctgtaaga tattttaaaa tccacacttg gccaagcgtg gtggctcaca catataatcc
     2881 cagcactttg ggaggccaag gtgggcggat cacaaggtca ggagttcgag accagcctgg
     2941 ccaatatggt gaaatcccat ctctactaaa aatacaaaaa ctagccaggc gtgttggctt
     3001 acacttatag tcccagctac tcaggtggct gaggcaggag aatcacttga accaggaggc
     3061 ggagtttgca gtgagctgag atcacagcac tgcacaccag cctcggcaac agagtgagac
     3121 tccgtctgaa aaaaaaaaaa tccacgctgt tttatatttc taacatgggg taggatacca
     3181 tcctccatga aatagggtgc aagtgtgtga aatgcagatg ggaatcctgt cccagctagc
     3241 ctgacagaga agtgagcact tcctatggca aattatgtaa gaaaatattc cccaggcaga
     3301 tgcttatgaa aagaatctgt tcagcctgca ggtaagtggg agagcccttg ctc
//
LOCUS       NM_000435               8680 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens notch receptor 3 (NOTCH3), mRNA.
ACCESSION   NM_000435
VERSION     NM_000435.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8680)
  AUTHORS   Korvatska O, Bucks SA, Yoda RA, Nolan A, Dorschner MO, Tsuang D,
            Jayadev S, Raskind WH and Bird TD.
  TITLE     NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy
            with subcortical infarcts and leukoencephalopathy (CADASIL) that can
            be confused with early-onset Alzheimer's disease
  JOURNAL   J Neurol Sci 452, 120763 (2023)
   PUBMED   37598468
  REMARK    GeneRIF: NOTCH3 C201R variant causes cerebral autosomal dominant
            arteriopathy with subcortical infarcts and leukoencephalopathy
            (CADASIL) that can be confused with early-onset Alzheimer's disease.
REFERENCE   2  (bases 1 to 8680)
  AUTHORS   Gao L, Sun W, Zhang D, Shang Y, Li L, Tao W, Zhang L and Liu H.
  TITLE     HIV-1 subtype B Tat enhances NOTCH3 signaling in astrocytes to
            mediate oxidative stress, inflammatory response, and neuronal
            apoptosis
  JOURNAL   J Neurovirol 29 (4), 479-491 (2023)
   PUBMED   37358698
  REMARK    GeneRIF: HIV-1 subtype B Tat enhances NOTCH3 signaling in astrocytes
            to mediate oxidative stress, inflammatory response, and neuronal
            apoptosis.
REFERENCE   3  (bases 1 to 8680)
  AUTHORS   Hu J, Qian J, Che Z, Tang B, Li Y, Gong Q and Lu X.
  TITLE     A novel report of Cys1298Gly mutation in exon 24 of NOTCH3 gene in a
            Chinese family with CADASIL
  JOURNAL   J Stroke Cerebrovasc Dis 32 (8), 107208 (2023)
   PUBMED   37295172
  REMARK    GeneRIF: A novel report of Cys1298Gly mutation in exon 24 of NOTCH3
            gene in a Chinese family with CADASIL.
REFERENCE   4  (bases 1 to 8680)
  AUTHORS   Han Y, He H and Li X.
  TITLE     [Mechanism of Notch3 signaling pathway regulating the
            differentiation of aortic dissection vascular stem cells into smooth
            muscle cells]
  JOURNAL   Zhonghua Wei Zhong Bing Ji Jiu Yi Xue 35 (5), 503-508 (2023)
   PUBMED   37308231
  REMARK    GeneRIF: [Mechanism of Notch3 signaling pathway regulating the
            differentiation of aortic dissection vascular stem cells into smooth
            muscle cells].
REFERENCE   5  (bases 1 to 8680)
  AUTHORS   Larsson C, Lardelli M, White I and Lendahl U.
  TITLE     The human NOTCH1, 2, and 3 genes are located at chromosome positions
            9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated
            translocation
  JOURNAL   Genomics 24 (2), 253-258 (1994)
   PUBMED   7698746
REFERENCE   6  (bases 1 to 8680)
  AUTHORS   Sugaya K, Fukagawa T, Matsumoto K, Mita K, Takahashi E, Ando A,
            Inoko H and Ikemura T.
  TITLE     Three genes in the human MHC class III region near the junction with
            the class II: gene for receptor of advanced glycosylation end
            products, PBX2 homeobox gene and a notch homolog, human counterpart
            of mouse mammary tumor gene int-3
  JOURNAL   Genomics 23 (2), 408-419 (1994)
   PUBMED   7835890
REFERENCE   7  (bases 1 to 8680)
  AUTHORS   Tournier-Lasserve E, Joutel A, Melki J, Weissenbach J, Lathrop GM,
            Chabriat H, Mas JL, Cabanis EA, Baudrimont M, Maciazek J et al.
  TITLE     Cerebral autosomal dominant arteriopathy with subcortical infarcts
            and leukoencephalopathy maps to chromosome 19q12
  JOURNAL   Nat Genet 3 (3), 256-259 (1993)
   PUBMED   8485581
REFERENCE   8  (bases 1 to 8680)
  AUTHORS   Ejaz,R., Carter,M. and Gripp,K.
  TITLE     NOTCH3-Related Lateral Meningocele Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   27336130
REFERENCE   9  (bases 1 to 8680)
  AUTHORS   Hack,R.J., Rutten,J. and Lesnik Oberstein,S.A.J.
  TITLE     CADASIL
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301673
REFERENCE   10  (bases 1 to 8680)
  AUTHORS   Beleil,O.M., Mickey,M.R. and Terasaki,P.I.
  TITLE     Comparison of male and female kidney transplant survival rates
  JOURNAL   Transplantation 13 (5), 493-500 (1972)
   PUBMED   4557798
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U97669.1, SRR14038197.924655.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000263388.7/ ENSP00000263388.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004257.1, U97669.1 and
            AC004663.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000435.2.
            Summary: This gene encodes the third discovered human homologue of
            the Drosophilia melanogaster type I membrane protein notch. In
            Drosophilia, notch interaction with its cell-bound ligands (delta,
            serrate) establishes an intercellular signalling pathway that plays
            a key role in neural development. Homologues of the notch-ligands
            have also been identified in human, but precise interactions
            between these ligands and the human notch homologues remains to be
            determined. Mutations in NOTCH3 have been identified as the
            underlying cause of cerebral autosomal dominant arteriopathy with
            subcortical infarcts and leukoencephalopathy (CADASIL). [provided
            by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8680
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.12"
     gene            1..8680
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="notch receptor 3"
                     /db_xref="GeneID:4854"
                     /db_xref="HGNC:HGNC:7883"
                     /db_xref="MIM:600276"
     CDS             91..7056
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="neurogenic locus notch homolog protein 3; Notch
                     homolog 3; notch 3"
                     /codon_start=1
                     /product="neurogenic locus notch homolog protein 3
                     precursor"
                     /protein_id="NP_000426.2"
                     /db_xref="CCDS:CCDS12326.1"
                     /db_xref="GeneID:4854"
                     /db_xref="HGNC:HGNC:7883"
                     /db_xref="MIM:600276"
                     /translation="MGPGARGRRRRRRPMSPPPPPPPVRALPLLLLLAGPGAAAPPCLD
                     GSPCANGGRCTQLPSREAACLCPPGWVGERCQLEDPCHSGPCAGRGVCQSSVVAGTARF
                     SCRCPRGFRGPDCSLPDPCLSSPCAHGARCSVGPDGRFLCSCPPGYQGRSCRSDVDECR
                     VGEPCRHGGTCLNTPGSFRCQCPAGYTGPLCENPAVPCAPSPCRNGGTCRQSGDLTYDC
                     ACLPGFEGQNCEVNVDDCPGHRCLNGGTCVDGVNTYNCQCPPEWTGQFCTEDVDECQLQ
                     PNACHNGGTCFNTLGGHSCVCVNGWTGESCSQNIDDCATAVCFHGATCHDRVASFYCAC
                     PMGKTGLLCHLDDACVSNPCHEDAICDTNPVNGRAICTCPPGFTGGACDQDVDECSIGA
                     NPCEHLGRCVNTQGSFLCQCGRGYTGPRCETDVNECLSGPCRNQATCLDRIGQFTCICM
                     AGFTGTYCEVDIDECQSSPCVNGGVCKDRVNGFSCTCPSGFSGSTCQLDVDECASTPCR
                     NGAKCVDQPDGYECRCAEGFEGTLCDRNVDDCSPDPCHHGRCVDGIASFSCACAPGYTG
                     TRCESQVDECRSQPCRHGGKCLDLVDKYLCRCPSGTTGVNCEVNIDDCASNPCTFGVCR
                     DGINRYDCVCQPGFTGPLCNVEINECASSPCGEGGSCVDGENGFRCLCPPGSLPPLCLP
                     PSHPCAHEPCSHGICYDAPGGFRCVCEPGWSGPRCSQSLARDACESQPCRAGGTCSSDG
                     MGFHCTCPPGVQGRQCELLSPCTPNPCEHGGRCESAPGQLPVCSCPQGWQGPRCQQDVD
                     ECAGPAPCGPHGICTNLAGSFSCTCHGGYTGPSCDQDINDCDPNPCLNGGSCQDGVGSF
                     SCSCLPGFAGPRCARDVDECLSNPCGPGTCTDHVASFTCTCPPGYGGFHCEQDLPDCSP
                     SSCFNGGTCVDGVNSFSCLCRPGYTGAHCQHEADPCLSRPCLHGGVCSAAHPGFRCTCL
                     ESFTGPQCQTLVDWCSRQPCQNGGRCVQTGAYCLCPPGWSGRLCDIRSLPCREAAAQIG
                     VRLEQLCQAGGQCVDEDSSHYCVCPEGRTGSHCEQEVDPCLAQPCQHGGTCRGYMGGYM
                     CECLPGYNGDNCEDDVDECASQPCQHGGSCIDLVARYLCSCPPGTLGVLCEINEDDCGP
                     GPPLDSGPRCLHNGTCVDLVGGFRCTCPPGYTGLRCEADINECRSGACHAAHTRDCLQD
                     PGGGFRCLCHAGFSGPRCQTVLSPCESQPCQHGGQCRPSPGPGGGLTFTCHCAQPFWGP
                     RCERVARSCRELQCPVGVPCQQTPRGPRCACPPGLSGPSCRSFPGSPPGASNASCAAAP
                     CLHGGSCRPAPLAPFFRCACAQGWTGPRCEAPAAAPEVSEEPRCPRAACQAKRGDQRCD
                     RECNSPGCGWDGGDCSLSVGDPWRQCEALQCWRLFNNSRCDPACSSPACLYDNFDCHAG
                     GRERTCNPVYEKYCADHFADGRCDQGCNTEECGWDGLDCASEVPALLARGVLVLTVLLP
                     PEELLRSSADFLQRLSAILRTSLRFRLDAHGQAMVFPYHRPSPGSEPRARRELAPEVIG
                     SVVMLEIDNRLCLQSPENDHCFPDAQSAADYLGALSAVERLDFPYPLRDVRGEPLEPPE
                     PSVPLLPLLVAGAVLLLVILVLGVMVARRKREHSTLWFPEGFSLHKDVASGHKGRREPV
                     GQDALGMKNMAKGESLMGEVATDWMDTECPEAKRLKVEEPGMGAEEAVDCRQWTQHHLV
                     AADIRVAPAMALTPPQGDADADGMDVNVRGPDGFTPLMLASFCGGALEPMPTEEDEADD
                     TSASIISDLICQGAQLGARTDRTGETALHLAARYARADAAKRLLDAGADTNAQDHSGRT
                     PLHTAVTADAQGVFQILIRNRSTDLDARMADGSTALILAARLAVEGMVEELIASHADVN
                     AVDELGKSALHWAAAVNNVEATLALLKNGANKDMQDSKEETPLFLAAREGSYEAAKLLL
                     DHFANREITDHLDRLPRDVAQERLHQDIVRLLDQPSGPRSPPGPHGLGPLLCPPGAFLP
                     GLKAAQSGSKKSRRPPGKAGLGPQGPRGRGKKLTLACPGPLADSSVTLSPVDSLDSPRP
                     FGGPPASPGGFPLEGPYAAATATAVSLAQLGGPGRAGLGRQPPGGCVLSLGLLNPVAVP
                     LDWARLPPPAPPGPSFLLPLAPGPQLLNPGTPVSPQERPPPYLAVPGHGEEYPAAGAHS
                     SPPKARFLRVPSEHPYLTPSPESPEHWASPSPPSLSDWSESTPSPATATGAMATTTGAL
                     PAQPLPLSVPSSLAQAQTQLGPQPEVTPKRQVLA"
     sig_peptide     91..207
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    91..168
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UM47.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3625..3627
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UM47.2); glycosylation site"
     misc_feature    4096..4098
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UM47.2); glycosylation site"
     misc_feature    4249..4371
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UM47.2);
                     Region: LNR 1"
     misc_feature    4372..4464
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UM47.2);
                     Region: LNR 2"
     misc_feature    4402..4404
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UM47.2); glycosylation site"
     misc_feature    4489..4605
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UM47.2);
                     Region: LNR 3"
     misc_feature    4801..4806
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="Cleavage, by furin-like protease.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (Q9UM47.2); cleavage site"
     misc_feature    5020..5082
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UM47.2);
                     transmembrane region"
     misc_feature    5602..5691
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UM47.2);
                     Region: ANK 1"
     misc_feature    5701..5793
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UM47.2);
                     Region: ANK 2"
     misc_feature    5803..5892
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UM47.2);
                     Region: ANK 3"
     misc_feature    5902..5991
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UM47.2);
                     Region: ANK 4"
     misc_feature    6001..6090
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UM47.2);
                     Region: ANK 5"
     misc_feature    6160..6450
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UM47.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    6610..6612
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q9UM47.2); methylation site"
     misc_feature    6658..7053
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UM47.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      8063..8068
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="hexamer: AATAAA"
     polyA_site      8085
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="major polyA site"
     regulatory      8656..8661
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
                     /note="hexamer: AATAAA"
     polyA_site      8680
                     /gene="NOTCH3"
                     /gene_synonym="CADASIL; CADASIL1; CASIL; IMF2; LMNS"
ORIGIN
        1 cttcggcgaa gttggcggcg cggaggctgg cccgggacgc gcccggagcc cagggaagga
       61 gggaggaggg gagggtcgcg gccggccgcc atggggccgg gggcccgtgg ccgccgccgc
      121 cgccgtcgcc cgatgtcgcc gccaccgcca ccgccacccg tgcgggcgct gcccctgctg
      181 ctgctgctag cggggccggg ggctgcagcc cccccttgcc tggacggaag cccgtgtgca
      241 aatggaggtc gttgcaccca gctgccctcc cgggaggctg cctgcctgtg cccgcctggc
      301 tgggtgggtg agcggtgtca gctggaggac ccctgtcact caggcccctg tgctggccgt
      361 ggtgtctgcc agagttcagt ggtggctggc accgcccgat tctcatgccg gtgcccccgt
      421 ggcttccgag gccctgactg ctccctgcca gatccctgcc tcagcagccc ttgtgcccac
      481 ggtgcccgct gctcagtggg gcccgatgga cgcttcctct gctcctgccc acctggctac
      541 cagggccgca gctgccgaag cgacgtggat gagtgccggg tgggtgagcc ctgccgccat
      601 ggtggcacct gcctcaacac acctggctcc ttccgctgcc agtgtccagc tggctacaca
      661 gggccactat gtgagaaccc cgcggtgccc tgtgcaccct caccatgccg taacgggggc
      721 acctgcaggc agagtggcga cctcacttac gactgtgcct gtcttcctgg gtttgagggt
      781 cagaattgtg aagtgaacgt ggacgactgt ccaggacacc gatgtctcaa tggggggaca
      841 tgcgtggatg gcgtcaacac ctataactgc cagtgccctc ctgagtggac aggccagttc
      901 tgcacggagg acgtggatga gtgtcagctg cagcccaacg cctgccacaa tgggggtacc
      961 tgcttcaaca cgctgggtgg ccacagctgc gtgtgtgtca atggctggac aggcgagagc
     1021 tgcagtcaga atatcgatga ctgtgccaca gccgtgtgct tccatggggc cacctgccat
     1081 gaccgcgtgg cttctttcta ctgtgcctgc cccatgggca agactggcct cctgtgtcac
     1141 ctggatgacg cctgtgtcag caacccctgc cacgaggatg ctatctgtga cacaaatccg
     1201 gtgaacggcc gggccatttg cacctgtcct cccggcttca cgggtggggc atgtgaccag
     1261 gatgtggacg agtgctctat cggcgccaac ccctgcgagc acttgggcag gtgcgtgaac
     1321 acgcagggct ccttcctgtg ccagtgcggt cgtggctaca ctggacctcg ctgtgagacc
     1381 gatgtcaacg agtgtctgtc ggggccctgc cgaaaccagg ccacgtgcct cgaccgcata
     1441 ggccagttca cctgtatctg tatggcaggc ttcacaggaa cctattgcga ggtggacatt
     1501 gacgagtgtc agagtagccc ctgtgtcaac ggtggggtct gcaaggaccg agtcaatggc
     1561 ttcagctgca cctgcccctc gggcttcagc ggctccacgt gtcagctgga cgtggacgaa
     1621 tgcgccagca cgccctgcag gaatggcgcc aaatgcgtgg accagcccga tggctacgag
     1681 tgccgctgtg ccgagggctt tgagggcacg ctgtgtgatc gcaacgtgga cgactgctcc
     1741 cctgacccat gccaccatgg tcgctgcgtg gatggcatcg ccagcttctc atgtgcctgt
     1801 gctcctggct acacgggcac acgctgcgag agccaggtgg acgaatgccg cagccagccc
     1861 tgccgccatg gcggcaaatg cctagacctg gtggacaagt acctctgccg ctgcccttct
     1921 gggaccacag gtgtgaactg cgaagtgaac attgacgact gtgccagcaa cccctgcacc
     1981 tttggagtct gccgtgatgg catcaaccgc tacgactgtg tctgccaacc tggcttcaca
     2041 gggccccttt gtaacgtgga gatcaatgag tgtgcttcca gcccatgcgg cgagggaggt
     2101 tcctgtgtgg atggggaaaa tggcttccgc tgcctctgcc cgcctggctc cttgccccca
     2161 ctctgcctcc ccccgagcca tccctgtgcc catgagccct gcagtcacgg catctgctat
     2221 gatgcacctg gcgggttccg ctgtgtgtgt gagcctggct ggagtggccc ccgctgcagc
     2281 cagagcctgg cccgagacgc ctgtgagtcc cagccgtgca gggccggtgg gacatgcagc
     2341 agcgatggaa tgggtttcca ctgcacctgc ccgcctggtg tccagggacg tcagtgtgaa
     2401 ctcctctccc cctgcacccc gaacccctgt gagcatgggg gccgctgcga gtctgcccct
     2461 ggccagctgc ctgtctgctc ctgcccccag ggctggcaag gcccacgatg ccagcaggat
     2521 gtggacgagt gtgctggccc cgcaccctgt ggccctcatg gtatctgcac caacctggca
     2581 gggagtttca gctgcacctg ccatggaggg tacactggcc cttcctgcga tcaggacatc
     2641 aatgactgtg accccaaccc atgcctgaac ggtggctcgt gccaagacgg cgtgggctcc
     2701 ttttcctgct cctgcctccc tggtttcgcc ggcccacgat gcgcccgcga tgtggatgag
     2761 tgcctgagca acccctgcgg cccgggcacc tgtaccgacc acgtggcctc cttcacctgc
     2821 acctgcccgc caggctacgg aggcttccac tgcgaacagg acctgcccga ctgcagcccc
     2881 agctcctgct tcaatggcgg gacctgtgtg gacggcgtga actcgttcag ctgcctgtgc
     2941 cgtcccggct acacaggagc ccactgccaa catgaggcag acccctgcct ctcgcggccc
     3001 tgcctacacg ggggcgtctg cagcgccgcc caccctggct tccgctgcac ctgcctcgag
     3061 agcttcacgg gcccgcagtg ccagacgctg gtggattggt gcagccgcca gccttgtcaa
     3121 aacgggggtc gctgcgtcca gactggggcc tattgccttt gtccccctgg atggagcgga
     3181 cgcctctgtg acatccgaag cttgccctgc agggaggccg cagcccagat cggggtgcgg
     3241 ctggagcagc tgtgtcaggc gggtgggcag tgtgtggatg aagacagctc ccactactgc
     3301 gtgtgcccag agggccgtac tggtagccac tgtgagcagg aggtggaccc ctgcttggcc
     3361 cagccctgcc agcatggggg gacctgccgt ggctatatgg ggggctacat gtgtgagtgt
     3421 cttcctggct acaatggtga taactgtgag gacgacgtgg acgagtgtgc ctcccagccc
     3481 tgccagcacg ggggttcatg cattgacctc gtggcccgct atctctgctc ctgtccccca
     3541 ggaacgctgg gggtgctctg cgagattaat gaggatgact gcggcccagg cccaccgctg
     3601 gactcagggc cccggtgcct acacaatggc acctgcgtgg acctggtggg tggtttccgc
     3661 tgcacctgtc ccccaggata cactggtttg cgctgcgagg cagacatcaa tgagtgtcgc
     3721 tcaggtgcct gccacgcggc acacacccgg gactgcctgc aggacccagg cggaggtttc
     3781 cgttgccttt gtcatgctgg cttctcaggt cctcgctgtc agactgtcct gtctccctgc
     3841 gagtcccagc catgccagca tggaggccag tgccgtccta gcccgggtcc tgggggtggg
     3901 ctgaccttca cctgtcactg tgcccagccg ttctggggtc cgcgttgcga gcgggtggcg
     3961 cgctcctgcc gggagctgca gtgcccggtg ggcgtcccat gccagcagac gccccgcggg
     4021 ccgcgctgcg cctgcccccc agggttgtcg ggaccctcct gccgcagctt cccggggtcg
     4081 ccgccggggg ccagcaacgc cagctgcgcg gccgccccct gtctccacgg gggctcctgc
     4141 cgccccgcgc cgctcgcgcc cttcttccgc tgcgcttgcg cgcagggctg gaccgggccg
     4201 cgctgcgagg cgcccgccgc ggcacccgag gtctcggagg agccgcggtg cccgcgcgcc
     4261 gcctgccagg ccaagcgcgg ggaccagcgc tgcgaccgcg agtgcaacag cccaggctgc
     4321 ggctgggacg gcggcgactg ctcgctgagc gtgggcgacc cctggcggca atgcgaggcg
     4381 ctgcagtgct ggcgcctctt caacaacagc cgctgcgacc ccgcctgcag ctcgcccgcc
     4441 tgcctctacg acaacttcga ctgccacgcc ggtggccgcg agcgcacttg caacccggtg
     4501 tacgagaagt actgcgccga ccactttgcc gacggccgct gcgaccaggg ctgcaacacg
     4561 gaggagtgcg gctgggatgg gctggattgt gccagcgagg tgccggccct gctggcccgc
     4621 ggcgtgctgg tgctcacagt gctgctgccg ccagaggagc tactgcgttc cagcgccgac
     4681 tttctgcagc ggctcagcgc catcctgcgc acctcgctgc gcttccgcct ggacgcgcac
     4741 ggccaggcca tggtcttccc ttaccaccgg cctagtcctg gctccgaacc ccgggcccgt
     4801 cgggagctgg cccccgaggt gatcggctcg gtagtaatgc tggagattga caaccggctc
     4861 tgcctgcagt cgcctgagaa tgatcactgc ttccccgatg cccagagcgc cgctgactac
     4921 ctgggagcgt tgtcagcggt ggagcgcctg gacttcccgt acccactgcg ggacgtgcgg
     4981 ggggagccgc tggagcctcc agaacccagc gtcccgctgc tgccactgct agtggcgggc
     5041 gctgtcttgc tgctggtcat tctcgtcctg ggtgtcatgg tggcccggcg caagcgcgag
     5101 cacagcaccc tctggttccc tgagggcttc tcactgcaca aggacgtggc ctctggtcac
     5161 aagggccggc gggaacccgt gggccaggac gcgctgggca tgaagaacat ggccaagggt
     5221 gagagcctga tgggggaggt ggccacagac tggatggaca cagagtgccc agaggccaag
     5281 cggctaaagg tagaggagcc aggcatgggg gctgaggagg ctgtggattg ccgtcagtgg
     5341 actcaacacc atctggttgc tgctgacatc cgcgtggcac cagccatggc actgacacca
     5401 ccacagggcg acgcagatgc tgatggcatg gatgtcaatg tgcgtggccc agatggcttc
     5461 accccgctaa tgctggcttc cttctgtggg ggggctctgg agccaatgcc aactgaagag
     5521 gatgaggcag atgacacatc agctagcatc atctccgacc tgatctgcca gggggctcag
     5581 cttggggcac ggactgaccg tactggcgag actgctttgc acctggctgc ccgttatgcc
     5641 cgtgctgatg cagccaagcg gctgctggat gctggggcag acaccaatgc ccaggaccac
     5701 tcaggccgca ctcccctgca cacagctgtc acagccgatg cccagggtgt cttccagatt
     5761 ctcatccgaa accgctctac agacttggat gcccgcatgg cagatggctc aacggcactg
     5821 atcctggcgg cccgcctggc agtagagggc atggtggaag agctcatcgc cagccatgct
     5881 gatgtcaatg ctgtggatga gcttgggaaa tcagccttac actgggctgc ggctgtgaac
     5941 aacgtggaag ccactttggc cctgctcaaa aatggagcca ataaggacat gcaggatagc
     6001 aaggaggaga cccccctatt cctggccgcc cgcgagggca gctatgaggc tgccaagctg
     6061 ctgttggacc actttgccaa ccgtgagatc accgaccacc tggacaggct gccgcgggac
     6121 gtagcccagg agagactgca ccaggacatc gtgcgcttgc tggatcaacc cagtgggccc
     6181 cgcagccccc ccggtcccca cggcctgggg cctctgctct gtcctccagg ggccttcctc
     6241 cctggcctca aagcggcaca gtcggggtcc aagaagagca ggaggccccc cgggaaggcg
     6301 gggctggggc cgcaggggcc ccgggggcgg ggcaagaagc tgacgctggc ctgcccgggc
     6361 cccctggctg acagctcggt cacgctgtcg cccgtggact cgctggactc cccgcggcct
     6421 ttcggtgggc cccctgcttc ccctggtggc ttcccccttg aggggcccta tgcagctgcc
     6481 actgccactg cagtgtctct ggcacagctt ggtggcccag gccgggcggg tctagggcgc
     6541 cagccccctg gaggatgtgt actcagcctg ggcctgctga accctgtggc tgtgcccctc
     6601 gattgggccc ggctgccccc acctgcccct ccaggcccct cgttcctgct gccactggcg
     6661 ccgggacccc agctgctcaa cccagggacc cccgtctccc cgcaggagcg gcccccgcct
     6721 tacctggcag tcccaggaca tggcgaggag tacccggcgg ctggggcaca cagcagcccc
     6781 ccaaaggccc gcttcctgcg ggttcccagt gagcaccctt acctgacccc atcccccgaa
     6841 tcccctgagc actgggccag cccctcacct ccctccctct cagactggtc cgaatccacg
     6901 cctagcccag ccactgccac tggggccatg gccaccacca ctggggcact gcctgcccag
     6961 ccacttccct tgtctgttcc cagctccctt gctcaggccc agacccagct ggggccccag
     7021 ccggaagtta cccccaagag gcaagtgttg gcctgagacg ctcgtcagtt cttagatctt
     7081 gggggcctaa agagaccccc gtcctgcctc ctttctttct ctgtctcttc cttcctttta
     7141 gtctttttca tcctcttctc tttccaccaa ccctcctgca tccttgcctt gcagcgtgac
     7201 cgagataggt catcagccca gggcttcagt cttcctttat ttataatggg tgggggctac
     7261 cacccaccct ctcagtcttg tgaagagtct gggacctcct tcttccccac ttctctcttc
     7321 cctcattcct ttctctctcc ttctggcctc tcatttcctt acactctgac atgaatgaat
     7381 tattattatt tttatttttc tttttttttt tacattttgt atagaaacaa attcatttaa
     7441 acaaacttat tattattatt ttttacaaaa tatatatatg gagatgctcc ctccccctgt
     7501 gaacccccca gtgcccccgt ggggctgagt ctgtgggccc attcggccaa gctggattct
     7561 gtgtacctag tacacaggca tgactgggat cccgtgtacc gagtacacga cccaggtatg
     7621 taccaagtag gcacccttgg gcgcacccac tggggccagg ggtcggggga gtgttgggag
     7681 cctcctcccc accccacctc cctcacttca ctgcattcca gatgggacat gttccatagc
     7741 cttgctgggg aagggcccac tgccaactcc ctctgcccca gccccaccct tggccatctc
     7801 cctttgggaa ctagggggct gctggtggga aatgggagcc agggcagatg tatgcattcc
     7861 tttgtgtccc tgtaaatgtg ggactacaag aagaggagct gcctgagtgg tactttctct
     7921 tcctggtaat cctctggccc agcctcatgg cagaatagag gtatttttag gctatttttg
     7981 taatatggct tctggtcaaa atccctgtgt agctgaattc ccaagccctg cattgtacag
     8041 ccccccactc ccctcaccac ctaataaagg aatagttaac actcagtgtt gttggtctgt
     8101 gtctaggtaa ggtggggagt ggtggcagtg ggacttctat ctcccccacc cagggctaac
     8161 ttgagctccc atcttggggt aaatacattt gacttgccag tctacttatg cttcctcttt
     8221 tggcagatga ctaccgattg gattagtggt tgtcacctga cttaagctga gccaatcaga
     8281 ttcttttgct cgagaacttt ctttaatgga gaggctaaga aagttgtcag ttggtggagc
     8341 tcttaaggtc acaatcagat ttagaaatat cagtggccaa ttcgaggtgg tgggcaaaga
     8401 gacaagcaaa cagggcagaa gaatgaagct aatattcagg gagaatcaga aatgagagct
     8461 caaatggctc cttgagggct gggggggtta tctcggctcc cagtgcagtt atcaattcca
     8521 gttaattgag tgttcattcc attgagatca acaggtattt attaattgct ttctaagtat
     8581 ctgatcatgg ttctgcatga atttcacttt tacttcatgc tcctatgggt tttggagata
     8641 accttggacc catgtaataa atacttcttt acttgtgcca
//
LOCUS       NM_000436               3294 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens 3-oxoacid CoA-transferase 1 (OXCT1), transcript variant
            3, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000436
VERSION     NM_000436.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3294)
  AUTHORS   Grunert SC, Foster W, Schumann A, Lund A, Pontes C, Roloff S,
            Weinhold N, Yue WW, AlAsmari A, Obaid OA, Faqeih EA, Stubbe L,
            Yamamoto R, Gemperle-Britschgi C, Walter M, Spiekerkoetter U,
            Mackinnon S and Sass JO.
  TITLE     Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A
            rare and potentially fatal metabolic disease
  JOURNAL   Biochimie 183, 55-62 (2021)
   PUBMED   33596448
  REMARK    GeneRIF: Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT)
            deficiency: A rare and potentially fatal metabolic disease.
REFERENCE   2  (bases 1 to 3294)
  AUTHORS   Shafqat N, Kavanagh KL, Sass JO, Christensen E, Fukao T, Lee WH,
            Oppermann U and Yue WW.
  TITLE     A structural mapping of mutations causing succinyl-CoA:3-ketoacid
            CoA transferase (SCOT) deficiency
  JOURNAL   J Inherit Metab Dis 36 (6), 983-987 (2013)
   PUBMED   23420214
  REMARK    GeneRIF: Crystal structure of human SCOT, providing a molecular
            understanding of the reported mutations based on their potential
            structural effects.
REFERENCE   3  (bases 1 to 3294)
  AUTHORS   Maurer GD, Brucker DP, Bahr O, Harter PN, Hattingen E, Walenta S,
            Mueller-Klieser W, Steinbach JP and Rieger J.
  TITLE     Differential utilization of ketone bodies by neurons and glioma cell
            lines: a rationale for ketogenic diet as experimental glioma therapy
  JOURNAL   BMC Cancer 11, 315 (2011)
   PUBMED   21791085
  REMARK    GeneRIF: Data show that the ketone body metabolizing enzymes BDH1,
            BDH2, OXCT1 and ACAT1 were expressed at the mRNA and protein level
            in all glioma cell lines. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3294)
  AUTHORS   Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C,
            Monastiri K, Guffon N, Baric I, Zabot MT and Kondo N.
  TITLE     Clinical and molecular characterization of five patients with
            succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency
  JOURNAL   Biochim Biophys Acta 1812 (5), 619-624 (2011)
   PUBMED   21296660
  REMARK    GeneRIF: Missense Mutations in succinyl-CoA:3-ketoacid CoA
            transferase is associated with Ketoacidosis.
REFERENCE   5  (bases 1 to 3294)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer
            JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3294)
  AUTHORS   Song XQ, Fukao T, Watanabe H, Shintaku H, Hirayama K,
            Kassovska-Bratinova S, Kondo N and Mitchell GA.
  TITLE     Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two
            pathogenic mutations, V133E and C456F, in Japanese siblings
  JOURNAL   Hum Mutat 12 (2), 83-88 (1998)
   PUBMED   9671268
REFERENCE   7  (bases 1 to 3294)
  AUTHORS   Fukao T, Song XQ, Mitchell GA, Yamaguchi S, Sukegawa K, Orii T and
            Kondo N.
  TITLE     Enzymes of ketone body utilization in human tissues: protein and
            messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA
            transferase and mitochondrial and cytosolic acetoacetyl-CoA
            thiolases
  JOURNAL   Pediatr Res 42 (4), 498-502 (1997)
   PUBMED   9380443
REFERENCE   8  (bases 1 to 3294)
  AUTHORS   Kassovska-Bratinova S, Fukao T, Song XQ, Duncan AM, Chen HS, Robert
            MF, Perez-Cerda C, Ugarte M, Chartrand C, Vobecky S, Kondo N and
            Mitchell GA.
  TITLE     Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning,
            human chromosomal mapping to 5p13, and mutation detection in a
            SCOT-deficient patient
  JOURNAL   Am J Hum Genet 59 (3), 519-528 (1996)
   PUBMED   8751852
REFERENCE   9  (bases 1 to 3294)
  AUTHORS   Perez-Cerda C, Merinero B, Sanz P, Jimenez A, Hernandez C, Garcia MJ
            and Ugarte M.
  TITLE     A new case of succinyl-CoA: acetoacetate transferase deficiency
  JOURNAL   J Inherit Metab Dis 15 (3), 371-373 (1992)
   PUBMED   1405472
REFERENCE   10  (bases 1 to 3294)
  AUTHORS   Zolnierowicz,S., Scislowski,P.W., Swierczynski,J. and Zelewski,L.
  TITLE     Acetoacetate utilization by human placental mitochondria
  JOURNAL   Placenta 5 (3), 271-276 (1984)
   PUBMED   6150478
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.104836.1,
            SRR1803611.178364.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000196371.10/ ENSP00000196371.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC034222.5, AC114946.2 and
            AC008817.8.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000436.3.
            Summary: This gene encodes a member of the 3-oxoacid
            CoA-transferase gene family. The encoded protein is a homodimeric
            mitochondrial matrix enzyme that plays a central role in
            extrahepatic ketone body catabolism by catalyzing the reversible
            transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations
            in this gene are associated with succinyl CoA:3-oxoacid CoA
            transferase deficiency. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3294
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.1"
     gene            1..3294
                     /gene="OXCT1"
                     /gene_synonym="OXCT; SCOT"
                     /note="3-oxoacid CoA-transferase 1"
                     /db_xref="GeneID:5019"
                     /db_xref="HGNC:HGNC:8527"
                     /db_xref="MIM:601424"
     CDS             68..1630
                     /gene="OXCT1"
                     /gene_synonym="OXCT; SCOT"
                     /EC_number="2.8.3.5"
                     /note="isoform 3 precursor is encoded by transcript variant
                     3; succinyl-CoA:3-ketoacid-CoA transferase; succinyl
                     CoA:3-oxoacid CoA transferase; SCOT-s;
                     succinyl-CoA:3-ketoacid coenzyme A transferase 1,
                     mitochondrial; somatic-type succinyl-CoA:3-oxoacid
                     CoA-transferase; epididymis secretory sperm binding
                     protein"
                     /codon_start=1
                     /product="succinyl-CoA:3-ketoacid coenzyme A transferase 1,
                     mitochondrial isoform 3 precursor"
                     /protein_id="NP_000427.1"
                     /db_xref="CCDS:CCDS3937.1"
                     /db_xref="GeneID:5019"
                     /db_xref="HGNC:HGNC:8527"
                     /db_xref="MIM:601424"
                     /translation="MAALKLLSSGLRLCASARGSGATWYKGCVCSFSTSAHRHTKFYTD
                     PVEAVKDIPDGATVLVGGFGLCGIPENLIDALLKTGVKGLTAVSNNAGVDNFGLGLLLR
                     SKQIKRMVSSYVGENAEFERQYLSGELEVELTPQGTLAERIRAGGAGVPAFYTPTGYGT
                     LVQEGGSPIKYNKDGSVAIASKPREVREFNGQHFILEEAITGDFALVKAWKADRAGNVI
                     FRKSARNFNLPMCKAAETTVVEVEEIVDIGAFAPEDIHIPQIYVHRLIKGEKYEKRIER
                     LSIRKEGDGEAKSAKPGDDVRERIIKRAALEFEDGMYANLGIGIPLLASNFISPNITVH
                     LQSENGVLGLGPYPRQHEADADLINAGKETVTILPGASFFSSDESFAMIRGGHVDLTML
                     GAMQVSKYGDLANWMIPGKMVKGMGGAMDLVSSAKTKVVVTMEHSAKGNAHKIMEKCTL
                     PLTGKQCVNRIITEKAVFDVDKKKGLTLIELWEGLTVDDVQKSTGCDFAVSPKLMPMQQ
                     IAN"
     transit_peptide 68..184
                     /gene="OXCT1"
                     /gene_synonym="OXCT; SCOT"
     mat_peptide     185..1627
                     /gene="OXCT1"
                     /gene_synonym="OXCT; SCOT"
                     /product="succinyl-CoA:3-ketoacid coenzyme A transferase 1,
                     mitochondrial isoform 3"
     misc_feature    575..577
                     /gene="OXCT1"
                     /gene_synonym="OXCT; SCOT"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P55809.1); phosphorylation site"
     regulatory      3272..3277
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OXCT1"
                     /gene_synonym="OXCT; SCOT"
                     /note="hexamer: AATAAA"
     polyA_site      3294
                     /gene="OXCT1"
                     /gene_synonym="OXCT; SCOT"
                     /note="major polyA site"
ORIGIN
        1 gcagtcgcgc accgacgctc aaacgcgcgc tccaacccgc agcctcctcc tgcctcaccg
       61 cccgaagatg gcggctctca aactcctctc ctccgggctt cggctctgcg cctctgcccg
      121 cggatctggg gcaacctggt acaagggatg tgtttgttcc ttttccacca gtgctcatcg
      181 ccataccaag ttttatacag atccagtaga agctgtaaaa gacatccctg atggtgccac
      241 ggttttggtt ggtggttttg ggctatgtgg aattccagag aatcttatag atgctttact
      301 gaaaactgga gtaaaaggac taactgcagt cagcaacaat gcaggggttg acaattttgg
      361 tttggggctt ttgcttcggt ccaagcagat aaaacgcatg gtctcttcat atgtgggaga
      421 aaatgcagaa tttgaacgac agtacttatc tggtgaatta gaagtggagc tgacaccaca
      481 gggcacactt gcagagagga tccgtgcagg cggggctgga gttcctgcat tttacacccc
      541 aacagggtat gggaccctgg tacaagaagg aggatcgccc atcaaataca acaaagatgg
      601 cagtgttgcc attgccagta agccaagaga ggtgagggag ttcaatggtc agcactttat
      661 tttggaggaa gcaattacag gggattttgc tttggtgaaa gcctggaagg cggaccgagc
      721 aggaaacgtg attttcagga aaagtgcaag gaatttcaac ttgccaatgt gcaaagctgc
      781 agaaaccaca gtggtagagg ttgaagaaat tgtggatatt ggagcatttg ctccagaaga
      841 catccatatt cctcagattt atgtacatcg ccttataaag ggagaaaaat atgagaaaag
      901 aattgagcgt ttatcaatcc ggaaagaggg agatggggaa gccaaatctg ctaaacctgg
      961 agatgacgta agggaacgaa tcatcaagag ggccgctctt gagtttgagg atggcatgta
     1021 tgctaatttg ggcataggaa tccctctcct ggccagcaat tttatcagcc caaatataac
     1081 tgttcatctt caaagtgaaa atggagttct gggtttgggt ccatatccac gacaacatga
     1141 agctgatgca gatctcatca atgcaggcaa ggaaacagtt actattcttc caggagcctc
     1201 ttttttctcc agcgatgaat catttgcaat gattagaggt ggacacgtcg atctgacaat
     1261 gctaggagcg atgcaggttt ccaaatatgg tgacctggct aactggatga tacctgggaa
     1321 gatggtgaaa ggaatgggag gtgctatgga tttagtgtcc agtgcgaaaa ccaaagtggt
     1381 ggtcaccatg gagcattctg caaagggaaa tgcacataaa atcatggaga aatgtacatt
     1441 accattgact ggaaagcaat gtgtcaaccg cattattact gaaaaggctg tgtttgatgt
     1501 ggacaagaag aaagggttga ctctgattga gctctgggaa ggcctgacag tggatgacgt
     1561 acagaagagt actgggtgtg attttgcagt ttcaccaaaa ctcatgccaa tgcagcagat
     1621 cgcaaattga aatatggata tttgtaccag gctgcgtgtt tttcatttta aacacacaag
     1681 atttaattga aaggacatca ataatcataa ttgtgtattt aacaggtggt tttttattag
     1741 ttttcttgtg tttcagactt tatgcagcca tataaactgt tctctaggca tgctgtgaca
     1801 ttttaataaa aagcaaaagg agcatttata attatctcat ttgttaaggc tgagaaggtt
     1861 gtttttataa taggtaatta tattgaatgc attttcactg aatatggtat gtatgctaaa
     1921 ttatatgaac ctttccccaa gaagggccct agaaattgat gtggctttcc tcttaaatat
     1981 taattattag tcctgaaaga aagataacat atgtgatttt tgtggttagg agagttgctg
     2041 tcatgattgt tttttcttca gcctcctctg acttttcttt tggggcttca gattttatga
     2101 ttacatcttg tccccctaga acatccccct tcctcccata ctgcttttaa acagatgccc
     2161 aagaaggcaa gcaggaatgc ctcttgtggg ggagggcagg gagaaataac tagttcaaac
     2221 caactatcta tctatgcttt gcaaagacta aggcgtatta taggaagagg gctagaaacc
     2281 taactgattc ttctcagttt tctcatttta aaacagccca gtattccttt gtatcctcaa
     2341 gggtccttga gaatacttct gttattgaga ccctgtgggc tacttgtact gtacctcctc
     2401 tcaagccaag aagggctgtg ggataattta ccatgaatcc ttagtagcaa tgacagcaga
     2461 gttaaaaaat aaaaggtgtt ttactttcag gctcttgttt tggttcagag gagattttaa
     2521 atattgaatg acacttctac agaacaacgg tttttcttct gccaaggcta cttcctttaa
     2581 cgaagtgcct ttaattcagc cttatccaac tagggaaaat aatgttggac aagtctagga
     2641 tttgaagagt cagtgaactt ttagtgtcag ggaataaaca tggtgggtag attaggtttg
     2701 aaaaaaactt ccttagaggt atttattctc aatacctgac aggggcccat gggaatgact
     2761 tcagaagcat cccggataat agatgggtaa aaagtctagg caccctgaag aacaggtgag
     2821 acagctggcc tctggacaga ggtaggcata gtacagtacg atatatcatt cctctggtcc
     2881 taaatataca aacttattca tgtttttagg tgatgatggt cattgaaact cacttctttt
     2941 caggtgtagc tacaattgtg taatgtacaa tattagagaa aggacaggct ttttatgagt
     3001 aacacacacc atatataaaa cagcctttct ggctgaccac atggttaaat gcataccttc
     3061 ccagtactgg ggggaaaaaa tgacccttct tagaatgtgc aagttccatg agagtaatat
     3121 attgatatga ttttgaaaag aattgttgat agttacatct tcaaacttat cattccagta
     3181 tgcatcttta agataatgtg attctaagta gatgacttta tattcttgat tgaagagtgc
     3241 tatacatgtt aagaaatgca ttaaggaata caataaatat tctaaagtga tgta
//
LOCUS       NM_000437               3487 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens platelet activating factor acetylhydrolase 2 (PAFAH2),
            mRNA.
ACCESSION   NM_000437
VERSION     NM_000437.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3487)
  AUTHORS   Moschos MM, Pantazis P, Gatzioufas Z, Panos GD, Gazouli M, Nitoda E
            and Brouzas D.
  TITLE     'Association between platelet activating factor acetylhydrolase and
            diabetic retinopathy: Does inflammation affect the retinal status?'
  JOURNAL   Prostaglandins Other Lipid Mediat 122, 69-72 (2016)
   PUBMED   26791393
  REMARK    GeneRIF: Data show that the activity of plasma platelet activating
            factor acetylhydrolase (PAF-AH) increases in parallel with diabetic
            retinopathy (DR) severity.
REFERENCE   2  (bases 1 to 3487)
  AUTHORS   Monillas ES, Caplan JL, Thevenin AF and Bahnson BJ.
  TITLE     Oligomeric state regulated trafficking of human platelet-activating
            factor acetylhydrolase type-II
  JOURNAL   Biochim Biophys Acta 1854 (5), 469-475 (2015)
   PUBMED   25707358
  REMARK    GeneRIF: The oligomeric state of PAFAH-II drives functional protein
            trafficking. PAFAH-II localization to the membrane is critical for
            substrate acquisition and effective oxidative stress protection.
REFERENCE   3  (bases 1 to 3487)
  AUTHORS   Schmidt EB, Koenig W, Khuseyinova N and Christensen JH.
  TITLE     Lipoprotein-associated phospholipase A2 concentrations in plasma are
            associated with the extent of coronary artery disease and correlate
            to adipose tissue levels of marine n-3 fatty acids
  JOURNAL   Atherosclerosis 196 (1), 420-424 (2008)
   PUBMED   17157859
  REMARK    GeneRIF: Lp-PLA2 was higher in those with more extensive Coronary
            artery disease
REFERENCE   4  (bases 1 to 3487)
  AUTHORS   Umemura K, Kato I, Hirashima Y, Ishii Y, Inoue T, Aoki J, Kono N,
            Oya T, Hayashi N, Hamada H, Endo S, Oda M, Arai H, Kinouchi H and
            Hiraga K.
  TITLE     Neuroprotective role of transgenic PAF-acetylhydrolase II in mouse
            models of focal cerebral ischemia
  JOURNAL   Stroke 38 (3), 1063-1068 (2007)
   PUBMED   17272759
  REMARK    GeneRIF: PAF-AH II exerts strong neuroprotective effects against
            ischemic injury: the neurological deficit scores, cerebral edema
            index, and relative infarction volume are all significantly lower in
            PAFAH2 transgenic mice than in wild-type mice.
REFERENCE   5  (bases 1 to 3487)
  AUTHORS   Unno N, Sakaguchi T, Nakamura T, Yamamoto N, Sugatani J, Miwa M and
            Konno H.
  TITLE     A single nucleotide polymorphism in the plasma PAF acetylhydrolase
            gene and risk of atherosclerosis in Japanese patients with
            peripheral artery occlusive disease
  JOURNAL   J Surg Res 134 (1), 36-43 (2006)
   PUBMED   16650870
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3487)
  AUTHORS   Marques M, Pei Y, Southall MD, Johnston JM, Arai H, Aoki J, Inoue T,
            Seltmann H, Zouboulis CC and Travers JB.
  TITLE     Identification of platelet-activating factor acetylhydrolase II in
            human skin
  JOURNAL   J Invest Dermatol 119 (4), 913-919 (2002)
   PUBMED   12406338
  REMARK    GeneRIF: presence of platelet-activating factor acetylhydrolase II
            in a restricted pattern in human skin; it is involved in protecting
            this organ against oxidative stress through the degradation of
            oxidatively modified bioactive phospholipids.
REFERENCE   7  (bases 1 to 3487)
  AUTHORS   Min JH, Wilder C, Aoki J, Arai H, Inoue K, Paul L and Gelb MH.
  TITLE     Platelet-activating factor acetylhydrolases: broad substrate
            specificity and lipoprotein binding does not modulate the catalytic
            properties of the plasma enzyme
  JOURNAL   Biochemistry 40 (15), 4539-4549 (2001)
   PUBMED   11294621
  REMARK    GeneRIF: examines substrate specificity for intracellular and plasma
            PAF-AHs
REFERENCE   8  (bases 1 to 3487)
  AUTHORS   Rice SQ, Southan C, Boyd HF, Terrett JA, MacPhee CH, Moores K,
            Gloger IS and Tew DG.
  TITLE     Expression, purification and characterization of a human
            serine-dependent phospholipase A2 with high specificity for oxidized
            phospholipids and platelet activating factor
  JOURNAL   Biochem J 330 (Pt 3) (Pt 3), 1309-1315 (1998)
   PUBMED   9494101
REFERENCE   9  (bases 1 to 3487)
  AUTHORS   Stafforini DM, McIntyre TM, Zimmerman GA and Prescott SM.
  TITLE     Platelet-activating factor acetylhydrolases
  JOURNAL   J Biol Chem 272 (29), 17895-17898 (1997)
   PUBMED   9218411
  REMARK    Review article
REFERENCE   10  (bases 1 to 3487)
  AUTHORS   Hattori K, Adachi H, Matsuzawa A, Yamamoto K, Tsujimoto M, Aoki J,
            Hattori M, Arai H and Inoue K.
  TITLE     cDNA cloning and expression of intracellular platelet-activating
            factor (PAF) acetylhydrolase II. Its homology with plasma PAF
            acetylhydrolase
  JOURNAL   J Biol Chem 271 (51), 33032-33038 (1996)
   PUBMED   8955149
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.67248.1,
            SRR1163657.101110.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374282.8/ ENSP00000363400.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D87845.1, U89386.1, BC001158.1,
            BU630496.1 and AL592064.14.
            On Nov 23, 2018 this sequence version replaced NM_000437.3.
            Summary: This gene encodes platelet-activating factor
            acetylhydrolase isoform 2, a single-subunit intracellular enzyme
            that catalyzes the removal of the acetyl group at the SN-2 position
            of platelet-activating factor (identified as
            1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). However, this
            lipase exhibits a broader substrate specificity than simply
            platelet activating factor. Two other isoforms of intracellular
            platelet-activating factor acetylhydrolase exist, and both are
            multi-subunit enzymes. Additionally, there is a single-subunit
            serum isoform of this enzyme. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3487
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..3487
                     /gene="PAFAH2"
                     /gene_synonym="HSD-PLA2"
                     /note="platelet activating factor acetylhydrolase 2"
                     /db_xref="GeneID:5051"
                     /db_xref="HGNC:HGNC:8579"
                     /db_xref="MIM:602344"
     misc_feature    33..35
                     /gene="PAFAH2"
                     /gene_synonym="HSD-PLA2"
                     /note="upstream in-frame stop codon"
     CDS             87..1265
                     /gene="PAFAH2"
                     /gene_synonym="HSD-PLA2"
                     /EC_number="3.1.1.47"
                     /EC_number="2.3.1.149"
                     /note="SD-PLA2; serine-dependent phospholipase A2;
                     platelet-activating factor acetylhydrolase 2, 40kDa;
                     PAF:sphingosine transacetylase; PAF:lysophospholipid
                     transacetylase; platelet-activating factor
                     acetyltransferase PAFAH2"
                     /codon_start=1
                     /product="platelet-activating factor acetylhydrolase 2,
                     cytoplasmic"
                     /protein_id="NP_000428.2"
                     /db_xref="CCDS:CCDS270.1"
                     /db_xref="GeneID:5051"
                     /db_xref="HGNC:HGNC:8579"
                     /db_xref="MIM:602344"
                     /translation="MGVNQSVGFPPVTGPHLVGCGDVMEGQNLQGSFFRLFYPCQKAEE
                     TMEQPLWIPRYEYCTGLAEYLQFNKRCGGLLFNLAVGSCRLPVSWNGPFKTKDSGYPLI
                     IFSHGLGAFRTLYSAFCMELASRGFVVAVPEHRDRSAATTYFCKQAPEENQPTNESLQE
                     EWIPFRRVEEGEKEFHVRNPQVHQRVSECLRVLKILQEVTAGQTVFNILPGGLDLMTLK
                     GNIDMSRVAVMGHSFGGATAILALAKETQFRCAVALDAWMFPLERDFYPKARGPVFFIN
                     TEKFQTMESVNLMKKICAQHEQSRIITVLGSVHRSQTDFAFVTGNLIGKFFSTETRGSL
                     DPYEGQEVMVRAMLAFLQKHLDLKEDYNQWNNLIEGIGPSLTPGAPHHLSSL"
     polyA_site      3487
                     /gene="PAFAH2"
                     /gene_synonym="HSD-PLA2"
                     /note="major polyA site"
ORIGIN
        1 aaacgtctgg ggctgcttct gaggaatcag cttgactggc cagcaagttc agctccggca
       61 agtcatttga ttcacccggt gatgaaatgg gggtcaacca gtctgtgggc tttccacctg
      121 tcacaggacc ccacctcgta ggctgtgggg atgtgatgga gggtcagaat ctccagggga
      181 gcttctttcg actcttctac ccctgccaaa aggcagagga gaccatggag cagcccctgt
      241 ggattccccg ctatgagtac tgcactggcc tggccgagta cctgcagttt aataagcgct
      301 gcgggggctt gctgttcaac ctggcggtgg gatcttgtcg cctgcctgtt agctggaatg
      361 gcccctttaa gacaaaggac tctggatacc ccttgatcat cttctcccat ggcctaggag
      421 ccttcaggac tttgtattca gccttctgca tggagctggc ctcacgtggc tttgtggttg
      481 ctgtgccaga gcacagggac cggtcagcgg caaccaccta tttctgcaag caggccccag
      541 aagagaacca gcccaccaat gaatcgctgc aggaggaatg gatccctttc cgtcgagttg
      601 aggaagggga gaaggaattt catgttcgga atccccaggt gcatcagcgg gtaagcgagt
      661 gtttacgggt gttgaagatc ctgcaagagg tcactgctgg gcagactgtc ttcaacatct
      721 tgcctggtgg cttggatctg atgactttga agggcaacat tgacatgagc cgtgtggctg
      781 tgatgggaca ttcatttgga ggggccacag ctattctggc tttggccaag gagacccaat
      841 ttcggtgtgc ggtggctctg gatgcttgga tgtttcctct ggaacgtgac ttttacccca
      901 aggcccgagg acctgtgttc tttatcaata ctgagaaatt ccagacaatg gagagtgtca
      961 atttgatgaa gaagatatgt gcccagcatg aacagtctag gatcataacc gttcttggtt
     1021 ctgttcatcg gagtcaaact gactttgctt ttgtgactgg caacttgatt ggtaaattct
     1081 tctccactga aacccgtggg agcctggacc cctatgaagg gcaggaggtt atggtacggg
     1141 ccatgttggc cttcctgcag aagcacctcg acctgaaaga agactataat caatggaaca
     1201 accttattga aggcattgga ccgtcgctca ccccaggggc cccccaccat ctgtccagcc
     1261 tgtaggcaca actggccatt tgtaaagtca cttcagccaa gttttcattt gggagctacc
     1321 caagggcacc catgagctcc tatcaagaag tgatcaacgt gacccctttt cacagattga
     1381 aaggtgtaat cacactgctg cttggataac tgggtacttt gatcttagat ttgatcttaa
     1441 aatcactttg ggactgggat cccttgctga ttgacaaaca gactttctgg gaccttgatg
     1501 gagtggggaa caagcagtag agtgggactg ggggagaccc aggccccggg ctgagcactg
     1561 tgaggcctgg atgtgaagac tcagcccagc gaagctcatt cccttacccc cggccagtgc
     1621 tgctgcttca gtggaagaga tgaagccaaa ggacagaatg aaaatcccta ccttcagaga
     1681 ctctagccca gcccaacacc atctcttcct acctctcagc cttctccctc cccagggcca
     1741 cttgttgaag tctgagcact ttatgtaaat ttctaggtgt gagccgtgat cacattttct
     1801 atttatttcc aagtcttctc attgtatgga acatagtact acttatactt acagtagtaa
     1861 gttatacttg tgagcccaca gagtggcaga cagcatggct ctcacagcac agggagaaaa
     1921 actgaggtac acagaggtac ctcagaagct ctggatgtct ttgggggttt tgctaagtgt
     1981 atcttgatag gaaacaacaa aagcaggttg agatggggaa gatgacagaa caacagtgtt
     2041 aaatggccat ttgcacaggc ctttgccaca acagagaagt agtttggtca gctaaaactc
     2101 agctgcagcc tggacagtag agcgagaccc catcttaaaa ataaagaagg ctgggcgtgg
     2161 tggctcatgc ctgtaatccc aacactttgg gaggccaagg caggcagatc acttaaggcc
     2221 aggagttcaa gaccacctgg ccaacatggt gaaaccccgt ctctactaaa aatacaaaaa
     2281 attagcctgg cgtaatggca ggcgcctata atcccagcta ctcaggaggc tgaagcagaa
     2341 gaatcacttg aacctaggag gcggaggttg cagtgagtca agatcgcgcc actgcactcc
     2401 agcctgggtg acagagcaag actctgtctt aaaaaaaaaa aaaagaaaaa gaaaaattta
     2461 aaataaataa aatttaaaaa cgcagaaggc cactcccaga gaggcctagg agtaccttgg
     2521 tcattttttc ttgcctcaaa tattataaac ctccaacttg ctcagaatca gggtgctttt
     2581 attgtctgtt ttctggctct gaggcccttg ccccaaattt aagtcagata cagactgaat
     2641 ttccattctg ttctgtttat aatatgaatg atattaatac tcttgtttgc ttaatgttat
     2701 gttggaattt tctgtttaat ctgcagtaga gcaagatgga gagccatctg gaattgactt
     2761 ccttctgtct ttcttctgtg ttcgcttact acttgggccc atgtgggaaa aaaactttaa
     2821 aaggaaggaa gtcttcttag ggatccagtt caaagctatt tgggggcatc aaactgaaac
     2881 tctcttctcc actactcaag acttcgtgcc tcagtccaag taggtaagag caaaagggaa
     2941 atgcatctct acacaatggc ccatggtcag ggccaccaga gcaagctggg cctagatctc
     3001 cacctgtcag tgactggcca ttctaagagg tgaaacagca gatcgttgag gctgtgaggg
     3061 aggatctttg aattcccatg agacatagca taagaagggt atcattaaag ccctgggctc
     3121 taaagttaca gagcctggtt ttgagtcctg gctccaccac tgccaactgg gtaaatttga
     3181 gcaaatggta ttctctttct tatctcagct cctgcgtttc taaaatgagg gtctgcgtta
     3241 tgaatagtta ggaggattaa gtgagaggat gtataaccca tgggttactt aaaagtatat
     3301 ttcctacctt ccaaacatga gatttttcta gttatagttt cttttctagc ttgattgctt
     3361 tgtggtcaga gaaaatgacc catatggttt ccatccttca aaatttgttg aaacttggtt
     3421 gttggcctag tatgagatca atgttgtaaa tgtgccatgt atgtttaaaa agactatata
     3481 ttctgaa
//
LOCUS       NM_000439               5136 bp    mRNA    linear   PRI 17-APR-2023
DEFINITION  Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1),
            transcript variant 1, mRNA.
ACCESSION   NM_000439
VERSION     NM_000439.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5136)
  AUTHORS   Shah BP, Sleiman PM, Mc Donald J, Moeller IH and Kleyn P.
  TITLE     Functional characterization of all missense variants in LEPR, PCSK1,
            and POMC genes arising from single-nucleotide variants
  JOURNAL   Expert Rev Endocrinol Metab 18 (2), 209-219 (2023)
   PUBMED   36864747
  REMARK    GeneRIF: Functional characterization of all missense variants in
            LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.
REFERENCE   2  (bases 1 to 5136)
  AUTHORS   Folon L, Baron M, Toussaint B, Vaillant E, Boissel M, Scherrer V,
            Loiselle H, Leloire A, Badreddine A, Balkau B, Charpentier G, Franc
            S, Marre M, Aboulouard S, Salzet M, Canouil M, Derhourhi M, Froguel
            P and Bonnefond A.
  TITLE     Contribution of heterozygous PCSK1 variants to obesity and
            implications for precision medicine: a case-control study
  JOURNAL   Lancet Diabetes Endocrinol 11 (3), 182-190 (2023)
   PUBMED   36822744
  REMARK    GeneRIF: Contribution of heterozygous PCSK1 variants to obesity and
            implications for precision medicine: a case-control study.
REFERENCE   3  (bases 1 to 5136)
  AUTHORS   Van Dijck E, Beckers S, Diels S, Huybrechts T, Verrijken A, Van
            Hoorenbeeck K, Verhulst S, Massa G, Van Gaal L and Van Hul W.
  TITLE     Rare Heterozygous PCSK1 Variants in Human Obesity: The Contribution
            of the p.Y181H Variant and a Literature Review
  JOURNAL   Genes (Basel) 13 (10), 1746 (2022)
   PUBMED   36292633
  REMARK    GeneRIF: Rare Heterozygous <i>PCSK1</i> Variants in Human Obesity:
            The Contribution of the p.Y181H Variant and a Literature Review.
            Review article Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5136)
  AUTHORS   Aerts L, Terry NA, Sainath NN, Torres C, Martin MG, Ramos-Molina B
            and Creemers JW.
  TITLE     Novel Homozygous Inactivating Mutation in the PCSK1 Gene in an
            Infant with Congenital Malabsorptive Diarrhea
  JOURNAL   Genes (Basel) 12 (5), 710 (2021)
   PUBMED   34068683
  REMARK    GeneRIF: Novel Homozygous Inactivating Mutation in the PCSK1 Gene in
            an Infant with Congenital Malabsorptive Diarrhea. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 5136)
  AUTHORS   Saikia M, Holter MM, Donahue LR, Lee IS, Zheng QC, Wise JL, Todero
            JE, Phuong DJ, Garibay D, Coch R, Sloop KW, Garcia-Ocana A, Danko CG
            and Cummings BP.
  TITLE     GLP-1 receptor signaling increases PCSK1 and beta cell features in
            human alpha cells
  JOURNAL   JCI Insight 6 (3), 141851 (2021)
   PUBMED   33554958
  REMARK    GeneRIF: GLP-1 receptor signaling increases PCSK1 and beta cell
            features in human alpha cells. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5136)
  AUTHORS   Benjannet S, Reudelhuber T, Mercure C, Rondeau N, Chretien M and
            Seidah NG.
  TITLE     Proprotein conversion is determined by a multiplicity of factors
            including convertase processing, substrate specificity, and
            intracellular environment. Cell type-specific processing of human
            prorenin by the convertase PC1
  JOURNAL   J Biol Chem 267 (16), 11417-11423 (1992)
   PUBMED   1597471
REFERENCE   7  (bases 1 to 5136)
  AUTHORS   Seidah NG, Hamelin J, Gaspar AM, Day R and Chretien M.
  TITLE     The cDNA sequence of the human pro-hormone and pro-protein
            convertase PC1
  JOURNAL   DNA Cell Biol 11 (4), 283-289 (1992)
   PUBMED   1605851
REFERENCE   8  (bases 1 to 5136)
  AUTHORS   Creemers JW, Roebroek AJ and Van de Ven WJ.
  TITLE     Expression in human lung tumor cells of the proprotein processing
            enzyme PC1/PC3. Cloning and primary sequence of a 5 kb cDNA
  JOURNAL   FEBS Lett 300 (1), 82-88 (1992)
   PUBMED   1547893
REFERENCE   9  (bases 1 to 5136)
  AUTHORS   Seidah NG, Mattei MG, Gaspar L, Benjannet S, Mbikay M and Chretien
            M.
  TITLE     Chromosomal assignments of the genes for neuroendocrine convertase
            PC1 (NEC1) to human 5q15-21, neuroendocrine convertase PC2 (NEC2) to
            human 20p11.1-11.2, and furin (mouse 7[D1-E2] region)
  JOURNAL   Genomics 11 (1), 103-107 (1991)
   PUBMED   1765368
REFERENCE   10  (bases 1 to 5136)
  AUTHORS   Sanke T, Bell GI, Sample C, Rubenstein AH and Steiner DF.
  TITLE     An islet amyloid peptide is derived from an 89-amino acid precursor
            by proteolytic processing
  JOURNAL   J Biol Chem 263 (33), 17243-17246 (1988)
   PUBMED   3053705
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.27882.1,
            SRR1660803.86657.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000311106.8/ ENSP00000308024.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA192592.1, X64810.1 and
            AC008951.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000439.4.
            Summary: This gene encodes a member of the subtilisin-like
            proprotein convertase family, which includes proteases that process
            protein and peptide precursors trafficking through regulated or
            constitutive branches of the secretory pathway. The encoded protein
            undergoes an initial autocatalytic processing event in the ER to
            generate a heterodimer which exits the ER and sorts to subcellular
            compartments where a second autocatalytic even takes place and the
            catalytic activity is acquired. The protease is packaged into and
            activated in dense core secretory granules and expressed in the
            neuroendocrine system and brain. This gene encodes one of the seven
            basic amino acid-specific members which cleave their substrates at
            single or paired basic residues. It functions in the proteolytic
            activation of polypeptide hormones and neuropeptides precursors.
            Mutations in this gene have been associated with susceptibility to
            obesity and proprotein convertase 1/3 deficiency. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene [provided by RefSeq, Jan 2014].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest protein (isoform 1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5136
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q15"
     gene            1..5136
                     /gene="PCSK1"
                     /gene_synonym="BMIQ12; NEC1; PC1; PC1/3; PC3; SPC3"
                     /note="proprotein convertase subtilisin/kexin type 1"
                     /db_xref="GeneID:5122"
                     /db_xref="HGNC:HGNC:8743"
                     /db_xref="MIM:162150"
     misc_feature    201..203
                     /gene="PCSK1"
                     /gene_synonym="BMIQ12; NEC1; PC1; PC1/3; PC3; SPC3"
                     /note="upstream in-frame stop codon"
     CDS             207..2468
                     /gene="PCSK1"
                     /gene_synonym="BMIQ12; NEC1; PC1; PC1/3; PC3; SPC3"
                     /EC_number="3.4.21.93"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; prohormone convertase 3; prohormone convertase
                     1; neuroendocrine convertase 1; proprotein convertase 1/3"
                     /codon_start=1
                     /product="neuroendocrine convertase 1 isoform 1
                     preproprotein"
                     /protein_id="NP_000430.3"
                     /db_xref="CCDS:CCDS4081.1"
                     /db_xref="GeneID:5122"
                     /db_xref="HGNC:HGNC:8743"
                     /db_xref="MIM:162150"
                     /translation="MERRAWSLQCTAFVLFCAWCALNSAKAKRQFVNEWAAEIPGGPEA
                     ASAIAEELGYDLLGQIGSLENHYLFKHKNHPRRSRRSAFHITKRLSDDDRVIWAEQQYE
                     KERSKRSALRDSALNLFNDPMWNQQWYLQDTRMTAALPKLDLHVIPVWQKGITGKGVVI
                     TVLDDGLEWNHTDIYANYDPEASYDFNDNDHDPFPRYDPTNENKHGTRCAGEIAMQANN
                     HKCGVGVAYNSKVGGIRMLDGIVTDAIEASSIGFNPGHVDIYSASWGPNDDGKTVEGPG
                     RLAQKAFEYGVKQGRQGKGSIFVWASGNGGRQGDNCDCDGYTDSIYTISISSASQQGLS
                     PWYAEKCSSTLATSYSSGDYTDQRITSADLHNDCTETHTGTSASAPLAAGIFALALEAN
                     PNLTWRDMQHLVVWTSEYDPLANNPGWKKNGAGLMVNSRFGFGLLNAKALVDLADPRTW
                     RSVPEKKECVVKDNDFEPRALKANGEVIIEIPTRACEGQENAIKSLEHVQFEATIEYSR
                     RGDLHVTLTSAAGTSTVLLAERERDTSPNGFKNWDFMSVHTWGENPIGTWTLRITDMSG
                     RIQNEGRIVNWKLILHGTSSQPEHMKQPRVYTSYNTVQNDRRGVEKMVDPGEEQPTQEN
                     PKENTLVSKSPSSSSVGGRRDELEEGAPSQAMLRLLQSAFSKNSPPKQSPKKSPSAKLN
                     IPYENFYEALEKLNKPSQLKDSEDSLYNDYVDVFYNTKPYKHRDDRLLQALVDILNEEN
                     "
     sig_peptide     207..287
                     /gene="PCSK1"
                     /gene_synonym="BMIQ12; NEC1; PC1; PC1/3; PC3; SPC3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     proprotein      288..2465
                     /gene="PCSK1"
                     /gene_synonym="BMIQ12; NEC1; PC1; PC1/3; PC3; SPC3"
                     /product="neuroendocrine convertase 1 isoform 1 proprotein"
     mat_peptide     537..2465
                     /gene="PCSK1"
                     /gene_synonym="BMIQ12; NEC1; PC1; PC1/3; PC3; SPC3"
                     /product="neuroendocrine convertase 1 isoform 1"
     misc_feature    723..725
                     /gene="PCSK1"
                     /gene_synonym="BMIQ12; NEC1; PC1; PC1/3; PC3; SPC3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P29120.2); glycosylation site"
     misc_feature    1407..1409
                     /gene="PCSK1"
                     /gene_synonym="BMIQ12; NEC1; PC1; PC1/3; PC3; SPC3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P29120.2); glycosylation site"
     misc_feature    1992..2192
                     /gene="PCSK1"
                     /gene_synonym="BMIQ12; NEC1; PC1; PC1/3; PC3; SPC3"
                     /note="propagated from UniProtKB/Swiss-Prot (P29120.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2100..2102
                     /gene="PCSK1"
                     /gene_synonym="BMIQ12; NEC1; PC1; PC1/3; PC3; SPC3"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:23234360; propagated from
                     UniProtKB/Swiss-Prot (P29120.2); glycosylation site"
     regulatory      2469..2474
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCSK1"
                     /gene_synonym="BMIQ12; NEC1; PC1; PC1/3; PC3; SPC3"
                     /note="hexamer: AATAAG"
     polyA_site      2487
                     /gene="PCSK1"
                     /gene_synonym="BMIQ12; NEC1; PC1; PC1/3; PC3; SPC3"
                     /note="major polyA site"
     regulatory      4967..4972
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCSK1"
                     /gene_synonym="BMIQ12; NEC1; PC1; PC1/3; PC3; SPC3"
                     /note="hexamer: AATACA"
     polyA_site      4990
                     /gene="PCSK1"
                     /gene_synonym="BMIQ12; NEC1; PC1; PC1/3; PC3; SPC3"
                     /note="major polyA site"
     regulatory      5107..5112
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCSK1"
                     /gene_synonym="BMIQ12; NEC1; PC1; PC1/3; PC3; SPC3"
                     /note="hexamer: AAGAAA"
     polyA_site      5136
                     /gene="PCSK1"
                     /gene_synonym="BMIQ12; NEC1; PC1; PC1/3; PC3; SPC3"
ORIGIN
        1 actcagcctg gagaccgaag cgcttcactg agcgctcgcc gccgcccagc ctctcctctc
       61 gcgcctccta gctcttcgca gagcaaccag gagccaggag tggtctagag cccgagggtg
      121 ggaaggggga gtctgtctgg cttttctcct atcttgcttc tttttcctct tcccttccca
      181 ctcttgttca agcgagtgtg tgagctatgg agcgaagagc ctggagtctg cagtgcactg
      241 ctttcgtcct cttttgcgct tggtgtgcac tgaacagtgc aaaagcgaaa aggcaatttg
      301 tcaatgaatg ggcagcggag atccccgggg gcccggaagc agcctcggcc atcgccgagg
      361 agctgggcta tgaccttttg ggtcagattg gttcacttga aaatcactac ttattcaaac
      421 ataaaaacca ccccagaagg tctcgaagga gtgcctttca tatcactaag agattatctg
      481 atgatgatcg tgtgatatgg gctgaacaac agtatgaaaa agaaagaagt aaacgttcag
      541 ctctaaggga ctcagcacta aatctcttca atgatcccat gtggaatcag caatggtact
      601 tgcaagatac caggatgacg gcagccctgc ccaagctgga ccttcatgtg atacctgttt
      661 ggcaaaaagg cattacgggc aaaggagttg ttatcaccgt actggatgat ggtttggagt
      721 ggaatcacac ggacatttat gccaactatg atccagaggc tagctatgat tttaatgata
      781 atgaccatga tccatttccc cgatatgatc ccacaaacga gaacaaacac gggaccagat
      841 gtgcaggaga aattgccatg caagcaaata atcacaaatg cggggttgga gttgcataca
      901 attccaaagt tggaggcata agaatgctgg atggcattgt gacggatgct attgaggcca
      961 gttcaattgg attcaatcct ggacacgtgg atatttacag tgcaagctgg ggccctaatg
     1021 atgatgggaa aactgtggag gggcctggcc ggctagccca gaaggctttt gaatatggtg
     1081 tcaaacaggg gagacagggg aaggggtcca tcttcgtctg ggcttcggga aacggggggc
     1141 gtcagggaga taattgtgac tgtgatggct acacagacag catctacacc atctccatca
     1201 gcagtgcctc ccagcaaggc ctatccccct ggtacgctga gaagtgctcc tccacactgg
     1261 ccacctctta cagcagcgga gattacaccg accagagaat cacgagcgct gacctgcaca
     1321 atgactgcac ggagacgcac acaggcacct cggcctctgc acctctggct gctggcatct
     1381 tcgctctggc cctggaagca aacccaaatc tcacctggcg agatatgcag cacctggttg
     1441 tctggacctc tgagtatgac ccgctggcca ataaccctgg atggaaaaag aatggagcag
     1501 gcttgatggt gaatagtcga tttggatttg gcttgctaaa tgccaaagct ctggtggatt
     1561 tagctgaccc caggacctgg aggagcgtgc ctgagaagaa agagtgtgtt gtaaaggaca
     1621 atgactttga gcccagagcc ctgaaagcta atggagaagt tatcattgaa attccaacaa
     1681 gagcttgtga aggacaagaa aatgctatca agtccctgga gcatgtacaa tttgaagcaa
     1741 caattgaata ttcccgaaga ggagaccttc atgtcacact tacttctgct gctggaacta
     1801 gcactgtgct cttggctgaa agagaacggg atacatctcc taatggcttt aagaattggg
     1861 acttcatgtc tgttcacaca tggggagaga accctatagg tacttggact ttgagaatta
     1921 cagacatgtc tggaagaatt caaaatgaag gaagaattgt gaactggaag ctgattttgc
     1981 acgggacctc ttctcagcca gagcatatga agcagcctcg tgtgtacacg tcctacaaca
     2041 ctgttcagaa tgacagaaga ggggtggaga agatggtgga tccaggggag gagcagccca
     2101 cacaagagaa ccctaaggag aacaccctgg tgtccaaaag ccccagcagc agcagcgtag
     2161 ggggccggag ggatgagttg gaggagggag ccccttccca ggccatgctg cgactcctgc
     2221 aaagtgcttt cagtaaaaac tcaccgccaa agcaatcacc aaagaagtcc ccaagtgcaa
     2281 agctcaacat cccttatgaa aacttctacg aagccctgga aaagctgaac aaaccttccc
     2341 agcttaaaga ctctgaagac agtctgtata atgactatgt tgatgttttt tataacacta
     2401 aaccttacaa gcacagagac gaccggctgc ttcaagctct ggtggacatt ctgaatgagg
     2461 aaaattaaaa taagtgtgtg gtcccaagtt ggaaatattc atgcttcttc cttaccctgc
     2521 gattttgcct gtgtctgaag tggttgtttt gtcatgaatt cttatgctta taatatcctt
     2581 tgtggcacct tttctttttc tccctaaact gtacatgtga aggggatgag ctcaagcagg
     2641 aagttcaact tccagaattg atcataggta tttcaaaaca catctttcct gtctgcacaa
     2701 gtgaagtgtt ttgttctttc tggagtcaca gttgacaaaa agctcttaca ctacattaga
     2761 acactgcatt agagcccatt tcaattctca aaagaaaagg caaaacctgg gatatcaatt
     2821 aatttgaaaa cataatctgc aaagaatgag aaggagtcag aaactgtttc tgtagcttgt
     2881 tccctgtctt gtccatgtgg ttcttcaaat tttgatgcca agaaagtatt tggtaggcct
     2941 aatgaaggag ttcactgtaa gactcattcc ctagatcttt ctattccaaa gtgccactca
     3001 ttcctgtagt caaaatctgg tcatgttggt caaaagctgg attatttaga tctagaaaca
     3061 gatcttgaaa tctgaatgct ctggtttgag caattttcga acattctttg cctggtgcac
     3121 tgtgtctgtg gtgccagagg cgtccgtgga tccagaggtg gttatgactc gtgctgcatg
     3181 cctggtcttt cctctgtttc tccttctgaa agttttctat acctgtctcc tttctcagcc
     3241 acaaaataaa tgttgggaga aatgatatat accactttcc cagaaaaaaa aaaacttaca
     3301 cttgggactt ggcaaattcc tagtcacaat ttttttcagc agtaacagga aaccacttat
     3361 cacatggaga cctaatgtaa taatagaaaa atactcataa tagggagaaa ccaagagaag
     3421 ttttgttttt gtttttttcc aactgtgttc attagaacag cgtgttctaa gtatttgaaa
     3481 ctgaatgttt attccttgat actaaaagtt cttctccaat cctatcactg atagtgtcca
     3541 aattctcacc aaattgctcc taagcttcaa atcagaagca gaaactggca ggccatggac
     3601 cttaattgtc cctcaggtag attttgtttg gtatgcagaa tgtttttaaa atatgagtgg
     3661 ttattgaaaa tatgatgttt cacataaaac ctcattctcg gacccatctt tgctcatggc
     3721 aacagttagc tggagctgag tagcagctgc ctgattagat gactctcagt ccccatggca
     3781 ccctgctcca tgttacctag agcaggcact tgattccttg ctgggcagta tccaataggc
     3841 atttgatttt gcccactcct acactaagcg aatgtgtaca aagtgtaaat gcattaggaa
     3901 aaacaaacta cccgcatctt ctgttaggca ggatctgtac aataataatt atgagtttgc
     3961 ttatgtaatc tcacctcacc tggatgatca ctaatactaa ttcatttatt actaaccttc
     4021 tggcttcctt ctctcaatat gcttacaaag tctccagtca cctacaatgc tggctttctc
     4081 ccactgagtt tgctgtttgc aatttttcca tgaagtttga acttcataag gtaattcatg
     4141 gcattgaact ggttcatgaa aagaacacta gagtctgtca tttgctttgg cttgaagtat
     4201 ggttggtaac acaaattttc acctgctctt ctaccatttg aatttgtgta gagggtgttt
     4261 gcagagcaat gcccgtaatg cttagagaat gttctcctaa aagacttgcg gaatcactct
     4321 gtccttggaa gtttcatata ttgtttgata tgaagtgtta gatagaattt ccaatattgg
     4381 agcatatcaa aaagtattaa aactaaaaag gaccagagaa ttcttagatt ggcccggaaa
     4441 ggccaataaa gagttagaat gaaaactcat tacttttcca ttcccaatct agtgctagat
     4501 gtataaatct ttcttttgat tcttcctaac aaaatatttt ctgggttaaa accccagcca
     4561 actcattggg ttgtagccaa aggttcactc tcaagaagct ttaatattta aataaaatca
     4621 tattgaatgt ttccaacctg gagtataata ttcagatata aaacagtttt gtcagtcttt
     4681 cttagtgcct gtgtggattt ttgtgaaaat gtcaaagaga aaacttatat actatttccc
     4741 ttgaaatttt aaactatatt ttctttacag gtatttataa tataccaatg cttttatcaa
     4801 acagaatttt aaagagcata ataaattata ttaaagaacc aaaagttttc ctgagaataa
     4861 gaaagtttca cccaataaaa tatttttgaa aggcatgttc ctctgtcaat gaaaaaaagt
     4921 acatgtatgt gttgtgatat taaaagtgac atttgtctaa tagcctaata caacatgtag
     4981 ctgagtttaa catgtgtggt cttggtattc ttaagggaac ttccacatta tacatttgat
     5041 gtattgacca gaatatgtaa aatatgctta taaatcagaa aaataaattg tttctcacta
     5101 agtcaaaaga aaaaaagctc atgtttccac cacaaa
//
LOCUS       NM_000440               5645 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens phosphodiesterase 6A (PDE6A), transcript variant 1,
            mRNA.
ACCESSION   NM_000440
VERSION     NM_000440.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5645)
  AUTHORS   Kuehlewein L, Strasser T, Blumenstock G, Stingl K, Fischer MD,
            Wilhelm B, Zrenner E, Wissinger B, Kohl S, Weisschuh N and Zobor D.
  CONSRTM   RD-CURE Consortium
  TITLE     Central Visual Function and Genotype-Phenotype Correlations in
            PDE6A-Associated Retinitis Pigmentosa
  JOURNAL   Invest Ophthalmol Vis Sci 63 (5), 9 (2022)
   PUBMED   35533076
  REMARK    GeneRIF: Central Visual Function and Genotype-Phenotype Correlations
            in PDE6A-Associated Retinitis Pigmentosa.
REFERENCE   2  (bases 1 to 5645)
  AUTHORS   Li Y, Li R, Dai H and Li G.
  TITLE     Novel variants in PDE6A and PDE6B genes and its phenotypes in
            patients with retinitis pigmentosa in Chinese families
  JOURNAL   BMC Ophthalmol 22 (1), 27 (2022)
   PUBMED   35033039
  REMARK    GeneRIF: Novel variants in PDE6A and PDE6B genes and its phenotypes
            in patients with retinitis pigmentosa in Chinese families.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5645)
  AUTHORS   Cote RH, Gupta R, Irwin MJ and Wang X.
  TITLE     Photoreceptor Phosphodiesterase (PDE6): Structure, Regulatory
            Mechanisms, and Implications for Treatment of Retinal Diseases
  JOURNAL   Adv Exp Med Biol 1371, 33-59 (2022)
   PUBMED   34170501
  REMARK    GeneRIF: Photoreceptor Phosphodiesterase (PDE6): Structure,
            Regulatory Mechanisms, and Implications for Treatment of Retinal
            Diseases. Review article
REFERENCE   4  (bases 1 to 5645)
  AUTHORS   Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B,
            Bernd AS, Biskup S, Boon CJF, Downes SM, Fischer MD, Holz FG,
            Kellner U, Leroy BP, Meunier I, Nasser F, Rosenberg T, Rudolph G,
            Stingl K, Thiadens AAHJ, Wilhelm B, Wissinger B, Zrenner E, Kohl S
            and Weisschuh N.
  CONSRTM   RD-CURE Consortium
  TITLE     Clinical Phenotype and Course of PDE6A-Associated Retinitis
            Pigmentosa Disease, Characterized in Preparation for a Gene
            Supplementation Trial
  JOURNAL   JAMA Ophthalmol 138 (12), 1241-1250 (2020)
   PUBMED   33057649
  REMARK    GeneRIF: Clinical Phenotype and Course of PDE6A-Associated Retinitis
            Pigmentosa Disease, Characterized in Preparation for a Gene
            Supplementation Trial.
REFERENCE   5  (bases 1 to 5645)
  AUTHORS   Khateb S, Nassisi M, Bujakowska KM, Mejecase C, Condroyer C, Antonio
            A, Foussard M, Demontant V, Mohand-Said S, Sahel JA, Zeitz C and
            Audo I.
  TITLE     Longitudinal Clinical Follow-up and Genetic Spectrum of Patients
            With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B
  JOURNAL   JAMA Ophthalmol 137 (6), 669-679 (2019)
   PUBMED   30998820
  REMARK    GeneRIF: Mutations in PDE6A and PDE6B accounted for 1.6% and 2.4%,
            respectively, in a cohort of French patients with rod-cone dystrophy
            (RCD)
REFERENCE   6  (bases 1 to 5645)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
REFERENCE   7  (bases 1 to 5645)
  AUTHORS   Catty P, Pfister C, Bruckert F and Deterre P.
  TITLE     The cGMP phosphodiesterase-transducin complex of retinal rods.
            Membrane binding and subunits interactions
  JOURNAL   J Biol Chem 267 (27), 19489-19493 (1992)
   PUBMED   1326553
REFERENCE   8  (bases 1 to 5645)
  AUTHORS   Pittler SJ and Baehr W.
  TITLE     The molecular genetics of retinal photoreceptor proteins involved in
            cGMP metabolism
  JOURNAL   Prog Clin Biol Res 362, 33-66 (1991)
   PUBMED   1672236
  REMARK    Review article
REFERENCE   9  (bases 1 to 5645)
  AUTHORS   Pittler SJ, Baehr W, Wasmuth JJ, McConnell DG, Champagne MS,
            vanTuinen P, Ledbetter D and Davis RL.
  TITLE     Molecular characterization of human and bovine rod photoreceptor
            cGMP phosphodiesterase alpha-subunit and chromosomal localization of
            the human gene
  JOURNAL   Genomics 6 (2), 272-283 (1990)
   PUBMED   2155175
REFERENCE   10  (bases 1 to 5645)
  AUTHORS   Takemoto DJ and Cunnick JM.
  TITLE     Visual transduction in rod outer segments
  JOURNAL   Cell Signal 2 (2), 99-104 (1990)
   PUBMED   2169289
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M26061.1, BC035909.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA1968832
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000255266.10/ ENSP00000255266.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M26061.1, BC035909.1,
            AC008427.9, AC008545.3 and BU734142.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000440.2.
            Summary: This gene encodes the cyclic-GMP (cGMP)-specific
            phosphodiesterase 6A alpha subunit, expressed in cells of the
            retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a
            heterotrimer composed of an alpha, beta, and two gamma subunits.
            cGMP is an important regulator of rod cell membrane current, and
            its dynamic concentration is established by phosphodiesterase 6A
            cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein
            is a subunit of a key phototransduction enzyme and participates in
            processes of transmission and amplification of the visual signal.
            Mutations in this gene have been identified as one cause of
            autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5645
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..5645
                     /gene="PDE6A"
                     /gene_synonym="CGPR-A; PDEA; RP43"
                     /note="phosphodiesterase 6A"
                     /db_xref="GeneID:5145"
                     /db_xref="HGNC:HGNC:8785"
                     /db_xref="MIM:180071"
     misc_feature    100..102
                     /gene="PDE6A"
                     /gene_synonym="CGPR-A; PDEA; RP43"
                     /note="upstream in-frame stop codon"
     CDS             121..2703
                     /gene="PDE6A"
                     /gene_synonym="CGPR-A; PDEA; RP43"
                     /EC_number="3.1.4.35"
                     /note="isoform 1 is encoded by transcript variant 1; rod
                     cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha;
                     cGMP phosphodiesterase alpha subunit; rod photoreceptor
                     cGMP phosphodiesterase alpha subunit; PDE V-B1; GMP-PDE
                     alpha; phosphodiesterase 6A, cGMP-specific, rod, alpha;
                     retinitis pigmentosa type 43"
                     /codon_start=1
                     /product="rod cGMP-specific 3',5'-cyclic phosphodiesterase
                     subunit alpha isoform 1"
                     /protein_id="NP_000431.2"
                     /db_xref="CCDS:CCDS4299.1"
                     /db_xref="GeneID:5145"
                     /db_xref="HGNC:HGNC:8785"
                     /db_xref="MIM:180071"
                     /translation="MGEVTAEEVEKFLDSNIGFAKQYYNLHYRAKLISDLLGAKEAAVD
                     FSNYHSPSSMEESEIIFDLLRDFQENLQTEKCIFNVMKKLCFLLQADRMSLFMYRTRNG
                     IAELATRLFNVHKDAVLEDCLVMPDQEIVFPLDMGIVGHVAHSKKIANVPNTEEDEHFC
                     DFVDILTEYKTKNILASPIMNGKDVVAIIMAVNKVDGSHFTKRDEEILLKYLNFANLIM
                     KVYHLSYLHNCETRRGQILLWSGSKVFEELTDIERQFHKALYTVRAFLNCDRYSVGLLD
                     MTKQKEFFDVWPVLMGEVPPYSGPRTPDGREINFYKVIDYILHGKEDIKVIPNPPPDHW
                     ALVSGLPAYVAQNGLICNIMNAPAEDFFAFQKEPLDESGWMIKNVLSMPIVNKKEEIVG
                     VATFYNRKDGKPFDEMDETLMESLTQFLGWSVLNPDTYESMNKLENRKDIFQDIVKYHV
                     KCDNEEIQKILKTREVYGKEPWECEEEELAEILQAELPDADKYEINKFHFSDLPLTELE
                     LVKCGIQMYYELKVVDKFHIPQEALVRFMYSLSKGYRKITYHNWRHGFNVGQTMFSLLV
                     TGKLKRYFTDLEALAMVTAAFCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFG
                     KTLLRDESLNIFQNLNRRQHEHAIHMMDIAIIATDLALYFKKRTMFQKIVDQSKTYESE
                     QEWTQYMMLEQTRKEIVMAMMMTACDLSAITKPWEVQSQVALLVAAEFWEQGDLERTVL
                     QQNPIPMMDRNKADELPKLQVGFIDFVCTFVYKEFSRFHEEITPMLDGITNNRKEWKAL
                     ADEYDAKMKVQEEKKQKQQSAKSAAAGNQPGGNPSPGGATTSKSCCIQ"
     misc_feature    124..126
                     /gene="PDE6A"
                     /gene_synonym="CGPR-A; PDEA; RP43"
                     /note="N-acetylglycine.
                     /evidence=ECO:0000250|UniProtKB:P11541; propagated from
                     UniProtKB/Swiss-Prot (P16499.4); acetylation site"
     misc_feature    2581..2700
                     /gene="PDE6A"
                     /gene_synonym="CGPR-A; PDEA; RP43"
                     /note="propagated from UniProtKB/Swiss-Prot (P16499.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2689..2691
                     /gene="PDE6A"
                     /gene_synonym="CGPR-A; PDEA; RP43"
                     /note="Cysteine methyl ester. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P16499.4);
                     methylation site"
     regulatory      5622..5627
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE6A"
                     /gene_synonym="CGPR-A; PDEA; RP43"
                     /note="hexamer: AATAAA"
     polyA_site      5645
                     /gene="PDE6A"
                     /gene_synonym="CGPR-A; PDEA; RP43"
                     /note="major polyA site"
ORIGIN
        1 agtatgtttt gcagacaaga cccagagaag tccagactgg acttgttgca gactgcaaaa
       61 ctgccattgg aaggcctccg tcccagtcct tctacagagt agccagtggg attcccagcc
      121 atgggcgagg tgacagcaga ggaggtggag aagttcctgg actcgaatat tggctttgcc
      181 aaacagtact acaacctcca ctaccgggcc aagctcatct ccgacctcct tggggccaag
      241 gaggctgccg tggacttcag caactaccac tccccgagca gcatggagga gagcgaaatc
      301 atctttgatc tcctgcggga ctttcaggag aatttacaga cagagaaatg catcttcaat
      361 gtcatgaaga agctgtgctt cctcctgcag gcagaccgca tgagcctgtt catgtaccgg
      421 acccgcaatg gcatcgcaga gctggccacc aggcttttca atgtccacaa ggatgctgtc
      481 ctcgaggact gcctggtgat gcccgaccaa gagatcgtct tccctttgga catgggcatc
      541 gtgggccatg tcgcacactc taagaagatt gctaacgtcc ccaacacaga ggaggatgag
      601 catttctgtg actttgtgga catcctcaca gagtacaaga ccaagaacat cttggcttcc
      661 cccataatga atgggaagga tgtggtggcc ataatcatgg ctgtgaataa agtggatgga
      721 tcccacttca ccaagagaga tgaagagatt cttctcaagt acctcaattt tgcaaatcta
      781 atcatgaagg tgtaccacct gagttacctg cacaactgtg aaactcgacg tggccagata
      841 ctgctgtggt ctgggagcaa agtctttgaa gaacttacgg acatcgaacg acagttccac
      901 aaagccctgt acacagtccg tgctttcctc aactgtgaca gatactctgt gggtctctta
      961 gacatgacca agcagaagga attttttgat gtgtggccgg ttctgatggg tgaagttcca
     1021 ccttactctg gtcccaggac tccggatgga agagaaatta acttttacaa ggtcattgac
     1081 tacatcctgc atggcaaaga ggacatcaaa gtcatcccga atccacctcc tgaccattgg
     1141 gctttagtaa gcggtctccc agcttatgtt gcccagaatg gcctgatttg caacatcatg
     1201 aatgcgcctg cggaggactt ttttgcattt cagaaagaac ctctggatga gtctggatgg
     1261 atgattaaaa atgtgctttc aatgccgatt gtgaacaaga aggaagaaat tgttggagtg
     1321 gccacatttt acaatcgtaa agatgggaag ccctttgatg aaatggatga gacgctcatg
     1381 gagtctttga ctcaatttct gggctggtct gtcttaaatc ctgacaccta tgagtcaatg
     1441 aataaacttg aaaataggaa ggatattttc caggacatag taaaatatca tgtgaagtgt
     1501 gacaatgaag aaattcagaa aatcttgaaa accagagagg tgtatgggaa ggagccatgg
     1561 gagtgtgagg aagaggagct ggctgagatc ctgcaagcgg agctgccaga tgcagataaa
     1621 tacgaaatta ataaatttca cttcagtgac ttacccctaa cagaactgga gctggtaaaa
     1681 tgtggaatac agatgtatta tgagctcaaa gtggtggata aatttcacat tccacaagag
     1741 gccctggtgc ggttcatgta ctccctgagt aagggctacc gcaagatcac ctaccacaac
     1801 tggcggcacg gcttcaacgt ggggcagacc atgttctccc tgctggtgac gggaaagctg
     1861 aagcgctact tcacggacct agaggccttg gccatggtca ctgctgcttt ctgccatgac
     1921 attgaccaca gaggcaccaa taacctctac cagatgaaat cccagaaccc actggccaag
     1981 ctccatgggt cctctatctt ggaaagacac cacttggagt ttggcaaaac actgctcaga
     2041 gacgagagcc tgaatatctt tcaaaacctc aatcgtcgac agcatgagca tgccatccac
     2101 atgatggaca ttgcaatcat tgccacagac ctcgccctgt atttcaagaa gaggacgatg
     2161 ttccaaaaga tcgtggatca gtctaagaca tatgagagtg aacaggagtg gacacagtac
     2221 atgatgctgg agcagacacg gaaggaaatc gttatggcca tgatgatgac cgcctgtgat
     2281 ctctcagcca tcaccaaacc ctgggaggtg cagagccagg tagctctgct ggtggctgct
     2341 gaattctggg aacaaggtga cctggagcgc acggtgctgc aacagaatcc cattcccatg
     2401 atggacagaa acaaagcaga tgaactccct aagcttcaag tcggcttcat tgactttgtt
     2461 tgcaccttcg tctacaagga attctcccgt ttccacgagg agatcacccc aatgttggac
     2521 gggatcacca acaatcgcaa ggagtggaag gcgcttgctg atgagtacga tgccaagatg
     2581 aaggtgcagg aggagaagaa gcagaaacag cagtcggcca agtcagcagc cgcaggaaat
     2641 cagccggggg gaaaccccag cccagggggt gcaactacat ccaagtcctg ctgcatccag
     2701 taacaccact ggggatgtgc tggctggacg gcaccaccct ttcctgggaa gagatgactc
     2761 aagccagtgg aagaccacac accttgagaa gtagaagagt cataggattt gaaagctgtt
     2821 agagaattta gcttccagga ctgttcaatc ttttggcttc cctgggccac attggaagaa
     2881 ttgtcttggg tcacacataa aatacagtaa cactaatgat agctgttgaa cttaaaaaaa
     2941 aaaatcgcca aaaaaaaaaa tttcataatg ttttaagaaa gtttatgaat ttgtgttggg
     3001 ccgcattcaa agccgtcctg ggctgcatgt ggcccacggg ccgtgggttg aacaagcttg
     3061 gcttatacct tatccagtgg cttttaaaca ttcttttagt cttgagaact gcctattgag
     3121 ctaaaaccaa tattctagct ttcatagaca tcagttaaac atttaattac atttaattaa
     3181 tgccagattc actggcttgc ttagaatcat ttttgttctt atactttcag ttaatgtatt
     3241 gtaaaaattt tcaatcattt tcaaaagtag agaattgtac gttgaatccc cacataccca
     3301 tcacccagat tccaatatca agattttgct acatgcattt cgtctgtcct ttttacattt
     3361 tcttttcaat tttttttctt acctgaagtg tttaaaggca aatcctggcc aggcgtggtg
     3421 gctcacacct gtaatcccag cacttcagga ggctgaggtg ggcagactgc atgagcccag
     3481 gagtctgaga ccaacctgag caaaatggca aaaccctgtc tctacaaaaa atacaaaaat
     3541 tagcactcac ctgtagtctc agctacctgg gaggcagagg tgagaggatc tcttgaaccc
     3601 aggaggcgga agttgcagtg agctgagatc atgctactgc actccagctt gggcgaccga
     3661 gcgagactct gactcaaaca aaagcaaaag aaaaggcaaa tcccaaacat atcatttcac
     3721 acctctacta tctcatcttt aaagaaataa gtatgttttc taacataacc acatcactgg
     3781 cccatgcaac caatgcctgc ctaataccca gctgtgatct atgctttgat gggctgcaca
     3841 gaccccaagc ttcagcaaag gacttgggac cccaccagct ttgagtgctg ttgacagacc
     3901 cttagtatca accccatcag gtgttactgc agccttcccc agggtggcct acacccaatg
     3961 actgatccat gccaggtgga gaggcctggc catcttggct gagcatggga taactgtgca
     4021 gggctgttcc agctccacga ctcctcgtgg ggtccactaa ggctgtcgct gggctcacat
     4081 cccaactcga cttctccctc tgcccactcc tatttccttc ccttccccaa gcatcggtcc
     4141 ccagggcact gcttaataag catcctgcag actaagtcca ttttagagtc tgctttctgg
     4201 gacacccaac ttgtgatgcc agcccttaat caaccttcct tcattctcat gaacgttttc
     4261 aatggttggc ttgcctgaat ctgatccaaa caaattcaca tattgaattt agttgtttct
     4321 ttttgttggt ttttagaaaa aagaagatgt actttttatt cttggatttt tcattgattt
     4381 cacagagtat aaattaagtc agattattct caattccaga acttctgttt cttaaattag
     4441 caggcattct gttggtttaa aaagatagat gttggccggg cgcggtggct cacgcctgta
     4501 attccagcac tttgggaggc caaggtgggt ggatcacctg aggtcaggag ttcaagacca
     4561 gcctggccaa catggtgaaa ccccatctct actaaaaata caaaaattag ctgggtgtgg
     4621 tggtgtgcac ctgtaatccc agctactcag gaggctgagg caggagaatc gcttgaacct
     4681 gggaggcgaa ggttgcagtg agctgagatc atgccactgc actccagcct gggcaacaag
     4741 agcaagactc cgtctcaaaa aaaaaaaaaa gaaaaaaaaa agatgtggca gatagaattt
     4801 ctctctttct ctatctttca tgacgaggtc tcactctgtc gcccaggctg gagtgcagtg
     4861 gtatgaccat agctcactgg agccccagct gcccgggctc aagcaatcct ccatctcagc
     4921 ttaccaagca gcggtgacca caggcatgca ccaccatgcc cagctaattt tttaaaacct
     4981 atctttgtag acatggggtc tcattctgtt gcccaggctg gcctcaaact cctgacttca
     5041 agcaatcctc ctgcctcagc ctcccaaagt gttgggatta caggcgtgag ccactgcacc
     5101 tggccaggac ttatttcttt taaaccgaat ctaagtatgt tctggcaagt atgcaatacc
     5161 tagcggaatg cactggcctg atcagcattc ataccatagt aactgatgtt gaaaacagca
     5221 caaataaacc agaagttgaa aatggcaata acatgctaaa aatttgcaag tcaatttgtt
     5281 acacttgtcc aaatcttgat tttttttcct tctctatcgt tcccccccca ccaccagctt
     5341 tatggaggta taattagcaa ataaaaagta tacatattta aggtatacac tgtgatgttt
     5401 tgatatacat tgtgaaatgg ttaccataat taagctaatt aatatatcca tcacctcaca
     5461 tagccatggt taagtttctg aagtctcttt taatctacaa agtactcctt ccttttttcc
     5521 attgtcatca ccttgcagaa acagagtcag ttttcccaca ttctgtattt atctgtttgt
     5581 ttctttgtgg ccgcatgtaa cacattcctc tgtctcattc taataaatgg acattagctc
     5641 tagaa
//
LOCUS       NM_000441               4737 bp    mRNA    linear   PRI 15-MAY-2023
DEFINITION  Homo sapiens solute carrier family 26 member 4 (SLC26A4), mRNA.
ACCESSION   NM_000441
VERSION     NM_000441.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4737)
  AUTHORS   Danilchenko VY, Zytsar MV, Maslova EA, Orishchenko KE and Posukh OL.
  TITLE     Insight into the Natural History of Pathogenic Variant c.919-2A>G in
            the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its
            Common Origin in Southern Siberia (Russia)
  JOURNAL   Genes (Basel) 14 (4), 928 (2023)
   PUBMED   37107686
  REMARK    GeneRIF: Insight into the Natural History of Pathogenic Variant
            c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The
            Evidence for Its Common Origin in Southern Siberia (Russia).
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4737)
  AUTHORS   Huang LH, Zhao XL, Cheng XH, Yu YD, Wen C, Li Y, Wang XL, Wang XY,
            Ruan Y and En H.
  TITLE     [Analysis of genotypes on 850 newborns with SLC26A4 single-allele
            mutation and the phenotypes of those with second variant]
  JOURNAL   Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 58 (2), 117-125 (2023)
   PUBMED   36748152
  REMARK    GeneRIF: [Analysis of genotypes on 850 newborns with SLC26A4
            single-allele mutation and the phenotypes of those with second
            variant].
REFERENCE   3  (bases 1 to 4737)
  AUTHORS   Wang Q, Hu J, Bian P, Chen C, Wang Y, Cheng S, Guo Y and Xu B.
  TITLE     The effect of SLC26A4 gene mutations on long-term rehabilitative
            outcomes in cochlear implant patients
  JOURNAL   Acta Otolaryngol 143 (2), 156-162 (2023)
   PUBMED   36780306
  REMARK    GeneRIF: The effect of SLC26A4 gene mutations on long-term
            rehabilitative outcomes in cochlear implant patients.
REFERENCE   4  (bases 1 to 4737)
  AUTHORS   Tawalbeh M, Aburizeg D, Abu Alragheb BO, Alaqrabawi WS, Dardas Z,
            Srour L, Altarayra BH, Zayed AA, El Omari Z and Azab B.
  TITLE     SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial
            Diagnosis and Management
  JOURNAL   Genes (Basel) 13 (12), 2192 (2022)
   PUBMED   36553459
  REMARK    GeneRIF: SLC26A4 Phenotypic Variability Influences Intra- and
            Inter-Familial Diagnosis and Management. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 4737)
  AUTHORS   Gausden E, Armour JA, Coyle B, Coffey R, Hochberg Z, Pembrey M,
            Britton KE, Grossman A, Reardon W and Trembath R.
  TITLE     Thyroid peroxidase: evidence for disease gene exclusion in Pendred's
            syndrome
  JOURNAL   Clin Endocrinol (Oxf) 44 (4), 441-446 (1996)
   PUBMED   8706311
REFERENCE   6  (bases 1 to 4737)
  AUTHORS   Sheffield VC, Kraiem Z, Beck JC, Nishimura D, Stone EM, Salameh M,
            Sadeh O and Glaser B.
  TITLE     Pendred syndrome maps to chromosome 7q21-34 and is caused by an
            intrinsic defect in thyroid iodine organification
  JOURNAL   Nat Genet 12 (4), 424-426 (1996)
   PUBMED   8630498
REFERENCE   7  (bases 1 to 4737)
  AUTHORS   Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A,
            Britton K, Pembrey M, Reardon W and Trembath R.
  TITLE     Pendred syndrome (goitre and sensorineural hearing loss) maps to
            chromosome 7 in the region containing the nonsyndromic deafness gene
            DFNB4
  JOURNAL   Nat Genet 12 (4), 421-423 (1996)
   PUBMED   8630497
REFERENCE   8  (bases 1 to 4737)
  AUTHORS   Baldwin CT, Weiss S, Farrer LA, De Stefano AL, Adair R, Franklyn B,
            Kidd KK, Korostishevsky M and Bonne-Tamir B.
  TITLE     Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31
            and evidence for genetic heterogeneity in the Middle Eastern Druze
            population
  JOURNAL   Hum Mol Genet 4 (9), 1637-1642 (1995)
   PUBMED   8541853
REFERENCE   9  (bases 1 to 4737)
  AUTHORS   Smith,R.J.H., Iwasa,Y. and Schaefer,A.M.
  TITLE     Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301640
REFERENCE   10  (bases 1 to 4737)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Schaefer,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301607
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF030880.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144120,
            SAMEA2145240 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000644269.2/ ENSP00000494017.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF030880.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000441.1.
            Summary: Mutations in this gene are associated with Pendred
            syndrome, the most common form of syndromic deafness, an
            autosomal-recessive disease. It is highly homologous to the SLC26A3
            gene; they have similar genomic structures and this gene is located
            3' of the SLC26A3 gene. The encoded protein has homology to sulfate
            transporters. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4737
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.3"
     gene            1..4737
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="solute carrier family 26 member 4"
                     /db_xref="GeneID:5172"
                     /db_xref="HGNC:HGNC:8818"
                     /db_xref="MIM:605646"
     CDS             32..2374
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="sodium-independent chloride/iodide transporter;
                     solute carrier family 26 (anion exchanger), member 4"
                     /codon_start=1
                     /product="pendrin"
                     /protein_id="NP_000432.1"
                     /db_xref="CCDS:CCDS5746.1"
                     /db_xref="GeneID:5172"
                     /db_xref="HGNC:HGNC:8818"
                     /db_xref="MIM:605646"
                     /translation="MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERKT
                     LRESLAKCCSCSRKRAFGVLKTLVPILEWLPKYRVKEWLLSDVISGVSTGLVATLQGMA
                     YALLAAVPVGYGLYSAFFPILTYFIFGTSRHISVGPFPVVSLMVGSVVLSMAPDEHFLV
                     SSSNGTVLNTTMIDTAARDTARVLIASALTLLVGIIQLIFGGLQIGFIVRYLADPLVGG
                     FTTAAAFQVLVSQLKIVLNVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGLLTIVV
                     CMAVKELNDRFRHKIPVPIPIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFLPPEL
                     PPVSLFSEMLAASFSIAVVAYAIAVSVGKVYATKYDYTIDGNQEFIAFGISNIFSGFFS
                     CFVATTALSRTAVQESTGGKTQVAGIISAAIVMIAILALGKLLEPLQKSVLAAVVIANL
                     KGMFMQLCDIPRLWRQNKIDAVIWVFTCIVSIILGLDLGLLAGLIFGLLTVVLRVQFPS
                     WNGLGSIPSTDIYKSTKNYKNIEEPQGVKILRFSSPIFYGNVDGFKKCIKSTVGFDAIR
                     VYNKRLKALRKIQKLIKSGQLRATKNGIISDAVSTNNAFEPDEDIEDLEELDIPTKEIE
                     IQVDWNSELPVKVNVPKVPIHSLVLDCGAISFLDVVGVRSLRVIVKEFQRIDVNVYFAS
                     LQDYVIEKLEQCGFFDDNIRKDTFFLTVHDAILYLQNQVKSQEGQGSILETITLIQDCK
                     DTLELIETELTEEELDVQDEAMRTLAS"
     misc_feature    293..355
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="propagated from UniProtKB/Swiss-Prot (O43511.1);
                     transmembrane region"
     misc_feature    359..421
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="propagated from UniProtKB/Swiss-Prot (O43511.1);
                     transmembrane region"
     misc_feature    437..499
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="propagated from UniProtKB/Swiss-Prot (O43511.1);
                     transmembrane region"
     misc_feature    605..667
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="propagated from UniProtKB/Swiss-Prot (O43511.1);
                     transmembrane region"
     misc_feature    686..748
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="propagated from UniProtKB/Swiss-Prot (O43511.1);
                     transmembrane region"
     misc_feature    821..883
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="propagated from UniProtKB/Swiss-Prot (O43511.1);
                     transmembrane region"
     misc_feature    917..979
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="propagated from UniProtKB/Swiss-Prot (O43511.1);
                     transmembrane region"
     misc_feature    1064..1126
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="propagated from UniProtKB/Swiss-Prot (O43511.1);
                     transmembrane region"
     misc_feature    1184..1246
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="propagated from UniProtKB/Swiss-Prot (O43511.1);
                     transmembrane region"
     misc_feature    1295..1357
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="propagated from UniProtKB/Swiss-Prot (O43511.1);
                     transmembrane region"
     misc_feature    1376..1438
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="propagated from UniProtKB/Swiss-Prot (O43511.1);
                     transmembrane region"
     misc_feature    1490..1552
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="propagated from UniProtKB/Swiss-Prot (O43511.1);
                     transmembrane region"
     regulatory      4684..4689
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="hexamer: AATAAA"
     polyA_site      4711
                     /gene="SLC26A4"
                     /gene_synonym="DFNB4; EVA; PDS; TDH2B"
                     /note="major polyA site"
ORIGIN
        1 attccgggcg gggcgcgagc agagacaggt catggcagcg ccaggcggca ggtcggagcc
       61 gccgcagctc cccgagtaca gctgcagcta catggtgtcg cggccggtct acagcgagct
      121 cgctttccag caacagcacg agcggcgcct gcaggagcgc aagacgctgc gggagagcct
      181 ggccaagtgc tgcagttgtt caagaaagag agcctttggt gtgctaaaga ctcttgtgcc
      241 catcttggag tggctcccca aataccgagt caaggaatgg ctgcttagtg acgtcatttc
      301 gggagttagt actgggctag tggccacgct gcaagggatg gcatatgccc tactagctgc
      361 agttcctgtc ggatatggtc tctactctgc ttttttccct atcctgacat actttatctt
      421 tggaacatca agacatatct cagttggacc ttttccagtg gtgagtttaa tggtgggatc
      481 tgttgttctg agcatggccc ccgacgaaca ctttctcgta tccagcagca atggaactgt
      541 attaaatact actatgatag acactgcagc tagagataca gctagagtcc tgattgccag
      601 tgccctgact ctgctggttg gaattataca gttgatattt ggtggcttgc agattggatt
      661 catagtgagg tacttggcag atcctttggt tggtggcttc acaacagctg ctgccttcca
      721 agtgctggtc tcacagctaa agattgtcct caatgtttca accaaaaact acaatggagt
      781 tctctctatt atctatacgc tggttgagat ttttcaaaat attggtgata ccaatcttgc
      841 tgatttcact gctggattgc tcaccattgt cgtctgtatg gcagttaagg aattaaatga
      901 tcggtttaga cacaaaatcc cagtccctat tcctatagaa gtaattgtga cgataattgc
      961 tactgccatt tcatatggag ccaacctgga aaaaaattac aatgctggca ttgttaaatc
     1021 catcccaagg gggtttttgc ctcctgaact tccacctgtg agcttgttct cggagatgct
     1081 ggctgcatca ttttccatcg ctgtggtggc ttatgctatt gcagtgtcag taggaaaagt
     1141 atatgccacc aagtatgatt acaccatcga tgggaaccag gaattcattg cctttgggat
     1201 cagcaacatc ttctcaggat tcttctcttg ttttgtggcc accactgctc tttcccgcac
     1261 ggccgtccag gagagcactg gaggaaagac acaggttgct ggcatcatct ctgctgcgat
     1321 tgtgatgatc gccattcttg ccctggggaa gcttctggaa cccttgcaga agtcggtctt
     1381 ggcagctgtt gtaattgcca acctgaaagg gatgtttatg cagctgtgtg acattcctcg
     1441 tctgtggaga cagaataaga ttgatgctgt tatctgggtg tttacgtgta tagtgtccat
     1501 cattctgggg ctggatctcg gtttactagc tggccttata tttggactgt tgactgtggt
     1561 cctgagagtt cagtttcctt cttggaatgg ccttggaagc atccctagca cagatatcta
     1621 caaaagtacc aagaattaca aaaacattga agaacctcaa ggagtgaaga ttcttagatt
     1681 ttccagtcct attttctatg gcaatgtcga tggttttaaa aaatgtatca agtccacagt
     1741 tggatttgat gccattagag tatataataa gaggctgaaa gcgctgagga aaatacagaa
     1801 actaataaaa agtggacaat taagagcaac aaagaatggc atcataagtg atgctgtttc
     1861 aacaaataat gcttttgagc ctgatgagga tattgaagat ctggaggaac ttgatatccc
     1921 aaccaaggaa atagagattc aagtggattg gaactctgag cttccagtca aagtgaacgt
     1981 tcccaaagtg ccaatccata gccttgtgct tgactgtgga gctatatctt tcctggacgt
     2041 tgttggagtg agatcactgc gggtgattgt caaagaattc caaagaattg atgtgaatgt
     2101 gtattttgca tcacttcaag attatgtgat agaaaagctg gagcaatgcg ggttctttga
     2161 cgacaacatt agaaaggaca cattcttttt gacggtccat gatgctatac tctatctaca
     2221 gaaccaagtg aaatctcaag agggtcaagg ttccatttta gaaacgatca ctctcattca
     2281 ggattgtaaa gatacccttg aattaataga aacagagctg acggaagaag aacttgatgt
     2341 ccaggatgag gctatgcgta cacttgcatc ctgaaagtgg gttcgggagg tctctatgag
     2401 caaggaatac aagacaaaac ttcctcaatg cattgactat ttcttcagac tcaaaacact
     2461 cattcttttt tctattaagc cattgaaaga gaagcactaa gactgcttct aggctttatt
     2521 tataaaataa acaccttatc cctaacatgg gcaaaatggc tagaattatt cagacgattt
     2581 ggcagcgtcc agggtaagct ggtgttataa tacgctgctg atctacatca cagatttgct
     2641 aataatgttc acgtgggccc tggcatatct ctgttcagtt agagtgagtg ctgacccaac
     2701 agcctctgtg gtcaagcgag tcacgaatga ttaatcataa agaaaaatca gtttttgact
     2761 gacctggata tccatgagct gcactgatca ccatgtaagg tcacatttag taaatgctga
     2821 aataaaatga ttaatgcatt tatcaataaa agcctttgaa aatactttgg ataataaatt
     2881 ggagttttaa aaatgcaaat ttgcttagta tctaataatg aagtgttatt acatatagcc
     2941 ggaattgagg atctctttga tcctggaaat ggtttaccta aaagctacag aaccaggcca
     3001 atatattttg aaatattgat gcagacaaat gaaataataa agagattttc atggtttata
     3061 aaaatctttt ttgatatgat aataatcatg atcacaactg agatcaaaaa aatatatgac
     3121 agattatttt gtttaaaaat gcagttttaa ttatcttagt ctatagaaat gatcattgca
     3181 tggaggcatg tataggtatg atctgtgtaa aatctgacat aaaaacagtg ctattctgag
     3241 tgaaaatttt tttgatgtgc ttacataacc atggtgatta aaatgagttt atattttttc
     3301 tcaaaaattt tagcagtgtg taaagtaagt aatctttaac tgaactctga ccacttaaaa
     3361 aaaaatctaa aaattgaact acctatagta gtctgtgttt aaagtgaatt tttaaagaca
     3421 aagcattcta aatgaactca atataaaaac attcatttgg aatgtacata ctgaaaaata
     3481 caggtttttt tgaccaaaag tttttatatc ttttcttttt atttattttt ttcctaagtg
     3541 ccaacaattt tctagatatt atatacaaca caggctttga tcttggggac ttttcccata
     3601 tatttcacac tggagtgaat gaagttgtac ttcatttcta gagaaaagtt atacccaggt
     3661 ccccaattga gaatgtcttg cttgattgaa aacgacatca tcccttggta tactccaggg
     3721 attggtttca ggacccctgc atttaccaaa atttgtgcac actcaagtcc tgcagtcacc
     3781 cctgcctaaa gatagaatgg cttctctgtt tttcttctga aatacaacca gaaacaatgt
     3841 gtctatttct gaaagaatag gattaatgat catacaaatg ggttaatcct gaattctggt
     3901 tgtaaatctg gttacagcat aactaggatt ataatgctgc ctcattttca cagcactact
     3961 tgcttatatt gacaacaaat catctcgcta aagagtgaat gtaggccagg cgcggtggct
     4021 catgcctgta atcccagcac tttgggaggc cgaggcgggt ggatcacgag gtcaggagat
     4081 cgagaccatc ctggctaaca tggtaaaacc ccgtctctac taaaaataga aaaaaagaaa
     4141 ttagcctagc gtggtggctg gcgggcgcct gtagtcccag ctatttggga ggctaaggca
     4201 ggagaatggc gtgaacccgg gaggcggagc ttgcagtgag ccgaggtcgt gccactgcac
     4261 tccagcctgg gcgacagagc aagactccgt ctcaaaaaaa aaaaaaaaaa aaaaaaaaga
     4321 gtgaatgtaa tagtcttgca gaaaatgaat gaataccttt gttcaataaa ggaaatatgc
     4381 actgctcact tttttgaagg aaatgccaaa gttacgtttt acaacaaggc tagagtttgt
     4441 aaattctggg ttcatttgtg atgacataag tcagcaaact gcgggaatac tgtctcttct
     4501 atgtattttg tgaatagtaa gcataatttt agttttgtat tatcaatgaa aatttcactt
     4561 gaaattaaag ctgccttttg ttatattttt aacctatagg ataagattcc agtattgtat
     4621 atgagtttta acaaattaaa aaatcaaatc atgtacattt gaaaatattt gcacacattt
     4681 aaaaataaat gtaaagttgt cttttaaact actcggatgt gtcctttctg aacaaaa
//
LOCUS       NM_000442               6813 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens platelet and endothelial cell adhesion molecule 1
            (PECAM1), mRNA.
ACCESSION   NM_000442
VERSION     NM_000442.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6813)
  AUTHORS   Dhumale P, Nielsen JV, Hansen ACS, Burton M, Beck HC, Jorgensen MG,
            Toyserkani NM, Haahr MK, Hansen ST, Lund L, Thomassen M, Sorensen
            JA, Andersen DC, Jensen CH and Sheikh SP.
  TITLE     CD31 defines a subpopulation of human adipose-derived regenerative
            cells with potent angiogenic effects
  JOURNAL   Sci Rep 13 (1), 14401 (2023)
   PUBMED   37658225
  REMARK    GeneRIF: CD31 defines a subpopulation of human adipose-derived
            regenerative cells with potent angiogenic effects. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 6813)
  AUTHORS   Wu Q, Du X, Cheng J, Qi X, Liu H, Lv X, Gong X, Shao C, Wang M, Yue
            L, Yang X, Li S, Zhang Y, Li X and Yang H.
  TITLE     PECAM-1 drives beta-catenin-mediated EndMT via internalization in
            colon cancer with diabetes mellitus
  JOURNAL   Cell Commun Signal 21 (1), 203 (2023)
   PUBMED   37580771
  REMARK    GeneRIF: PECAM-1 drives beta-catenin-mediated EndMT via
            internalization in colon cancer with diabetes mellitus. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 6813)
  AUTHORS   Zhang Z, Gan Q, Han J, Tao Q, Qiu WQ and Madri JA.
  TITLE     CD31 as a probable responding and gate-keeping protein of the
            blood-brain barrier and the risk of Alzheimer's disease
  JOURNAL   J Cereb Blood Flow Metab 43 (7), 1027-1041 (2023)
   PUBMED   37051650
  REMARK    GeneRIF: CD31 as a probable responding and gate-keeping protein of
            the blood-brain barrier and the risk of Alzheimer's disease. Review
            article
REFERENCE   4  (bases 1 to 6813)
  AUTHORS   Silva A, Pereira SS, Brandao JR, Brochado P, Monteiro MP, Araujo A
            and Faria G.
  TITLE     Colon tumor CD31 expression is associated with higher disease-free
            survival in patients with metabolic syndrome
  JOURNAL   Pathol Res Pract 240, 154182 (2022)
   PUBMED   36327819
  REMARK    GeneRIF: Colon tumor CD31 expression is associated with higher
            disease-free survival in patients with metabolic syndrome.
REFERENCE   5  (bases 1 to 6813)
  AUTHORS   Kondo T, Takahashi M, Yamasaki G, Sugimoto M, Kuse A, Morichika M,
            Nakagawa K, Sakurada M, Asano M and Ueno Y.
  TITLE     Immunohistochemical analysis of CD31 expression in myocardial
            tissues from autopsies of patients with ischemic heart disease
  JOURNAL   Leg Med (Tokyo) 59, 102127 (2022)
   PUBMED   35917764
  REMARK    GeneRIF: Immunohistochemical analysis of CD31 expression in
            myocardial tissues from autopsies of patients with ischemic heart
            disease.
REFERENCE   6  (bases 1 to 6813)
  AUTHORS   Ferrero E, Ferrero ME, Pardi R and Zocchi MR.
  TITLE     The platelet endothelial cell adhesion molecule-1 (PECAM1)
            contributes to endothelial barrier function
  JOURNAL   FEBS Lett 374 (3), 323-326 (1995)
   PUBMED   7589563
REFERENCE   7  (bases 1 to 6813)
  AUTHORS   Albelda SM, Muller WA, Buck CA and Newman PJ.
  TITLE     Molecular and cellular properties of PECAM-1 (endoCAM/CD31): a novel
            vascular cell-cell adhesion molecule
  JOURNAL   J Cell Biol 114 (5), 1059-1068 (1991)
   PUBMED   1874786
REFERENCE   8  (bases 1 to 6813)
  AUTHORS   Stockinger H, Gadd SJ, Eher R, Majdic O, Schreiber W, Kasinrerk W,
            Strass B, Schnabl E and Knapp W.
  TITLE     Molecular characterization and functional analysis of the leukocyte
            surface protein CD31
  JOURNAL   J Immunol 145 (11), 3889-3897 (1990)
   PUBMED   1700999
REFERENCE   9  (bases 1 to 6813)
  AUTHORS   Simmons DL, Walker C, Power C and Pigott R.
  TITLE     Molecular cloning of CD31, a putative intercellular adhesion
            molecule closely related to carcinoembryonic antigen
  JOURNAL   J Exp Med 171 (6), 2147-2152 (1990)
   PUBMED   2351935
REFERENCE   10  (bases 1 to 6813)
  AUTHORS   Newman PJ, Berndt MC, Gorski J, White GC 2nd, Lyman S, Paddock C and
            Muller WA.
  TITLE     PECAM-1 (CD31) cloning and relation to adhesion molecules of the
            immunoglobulin gene superfamily
  JOURNAL   Science 247 (4947), 1219-1222 (1990)
   PUBMED   1690453
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.54540.1,
            SRR1803612.169808.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000563924.6/ ENSP00000457421.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC051822.1, AF281298.1 and
            AC016489.18.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000442.4.
            Summary: The protein encoded by this gene is found on the surface
            of platelets, monocytes, neutrophils, and some types of T-cells,
            and makes up a large portion of endothelial cell intercellular
            junctions. The encoded protein is a member of the immunoglobulin
            superfamily and is likely involved in leukocyte migration,
            angiogenesis, and integrin activation. [provided by RefSeq, May
            2010].
            Sequence Note: Due to a gap in the GRCh37 reference genome
            sequence, only a portion of the 3'-most exon of NM_000442.4 aligns
            to the reference genome sequence.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6813
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     gene            1..6813
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="platelet and endothelial cell adhesion molecule 1"
                     /db_xref="GeneID:5175"
                     /db_xref="HGNC:HGNC:8823"
                     /db_xref="MIM:173445"
     misc_feature    139..141
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="upstream in-frame stop codon"
     CDS             196..2412
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="CD31 antigen; platelet endothelial cell adhesion
                     molecule-1"
                     /codon_start=1
                     /product="platelet endothelial cell adhesion molecule
                     precursor"
                     /protein_id="NP_000433.4"
                     /db_xref="CCDS:CCDS74132.1"
                     /db_xref="GeneID:5175"
                     /db_xref="HGNC:HGNC:8823"
                     /db_xref="MIM:173445"
                     /translation="MQPRWAQGATMWLGVLLTLLLCSSLEGQENSFTINSVDMKSLPDW
                     TVQNGKNLTLQCFADVSTTSHVKPQHQMLFYKDDVLFYNISSMKSTESYFIPEVRIYDS
                     GTYKCTVIVNNKEKTTAEYQVLVEGVPSPRVTLDKKEAIQGGIVRVNCSVPEEKAPIHF
                     TIEKLELNEKMVKLKREKNSRDQNFVILEFPVEEQDRVLSFRCQARIISGIHMQTSEST
                     KSELVTVTESFSTPKFHISPTGMIMEGAQLHIKCTIQVTHLAQEFPEIIIQKDKAIVAH
                     NRHGNKAVYSVMAMVEHSGNYTCKVESSRISKVSSIVVNITELFSKPELESSFTHLDQG
                     ERLNLSCSIPGAPPANFTIQKEDTIVSQTQDFTKIASKSDSGTYICTAGIDKVVKKSNT
                     VQIVVCEMLSQPRISYDAQFEVIKGQTIEVRCESISGTLPISYQLLKTSKVLENSTKNS
                     NDPAVFKDNPTEDVEYQCVADNCHSHAKMLSEVLRVKVIAPVDEVQISILSSKVVESGE
                     DIVLQCAVNEGSGPITYKFYREKEGKPFYQMTSNATQAFWTKQKASKEQEGEYYCTAFN
                     RANHASSVPRSKILTVRVILAPWKKGLIAVVIIGVIIALLIIAAKCYFLRKAKAKQMPV
                     EMSRPAVPLLNSNNEKMSDPNMEANSHYGHNDDVRNHAMKPINDNKEPLNSDVQYTEVQ
                     VSSAESHKDLGKKDTETVYSEVRKAVPDAVESRYSRTEGSLDGT"
     sig_peptide     196..276
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     277..2409
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /product="platelet endothelial cell adhesion molecule"
     misc_feature    349..351
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:26702061,
                     ECO:0007744|PDB:5C14; propagated from UniProtKB/Swiss-Prot
                     (P16284.2); glycosylation site"
     misc_feature    445..447
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973,
                     ECO:0000269|PubMed:26702061, ECO:0007744|PDB:5C14;
                     propagated from UniProtKB/Swiss-Prot (P16284.2);
                     glycosylation site"
     misc_feature    646..648
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:26702061, ECO:0007744|PDB:5C14;
                     propagated from UniProtKB/Swiss-Prot (P16284.2);
                     glycosylation site"
     misc_feature    1096..1098
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16284.2); glycosylation site"
     misc_feature    1153..1155
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P16284.2); glycosylation site"
     misc_feature    1225..1227
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16284.2); glycosylation site"
     misc_feature    1261..1263
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16284.2); glycosylation site"
     misc_feature    1552..1554
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P16284.2); glycosylation site"
     misc_feature    1846..1848
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P16284.2); glycosylation site"
     misc_feature    1999..2055
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="propagated from UniProtKB/Swiss-Prot (P16284.2);
                     transmembrane region"
     misc_feature    2167..2340
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="propagated from UniProtKB/Swiss-Prot (P16284.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2257..2274
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="propagated from UniProtKB/Swiss-Prot (P16284.2);
                     Region: ITIM motif 1.
                     /evidence=ECO:0000305|PubMed:27958302"
     misc_feature    2263..2265
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="Phosphotyrosine, by FER.
                     /evidence=ECO:0000269|PubMed:19342684,
                     ECO:0000269|PubMed:21464369; propagated from
                     UniProtKB/Swiss-Prot (P16284.2); phosphorylation site"
     misc_feature    2320..2382
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="propagated from UniProtKB/Swiss-Prot (P16284.2);
                     Region: Membrane-bound segment which detaches upon
                     phosphorylation. /evidence=ECO:0000269|PubMed:21464369"
     misc_feature    2326..2343
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="propagated from UniProtKB/Swiss-Prot (P16284.2);
                     Region: ITIM motif 2.
                     /evidence=ECO:0000305|PubMed:27958302"
     misc_feature    2332..2334
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="Phosphotyrosine, by FER.
                     /evidence=ECO:0000269|PubMed:19342684,
                     ECO:0000269|PubMed:21464369, ECO:0000269|PubMed:9298995;
                     propagated from UniProtKB/Swiss-Prot (P16284.2);
                     phosphorylation site"
     misc_feature    2356..2409
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="propagated from UniProtKB/Swiss-Prot (P16284.2);
                     Region: May play a role in cytoprotective signaling"
     misc_feature    2380..2382
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:21464369; propagated from
                     UniProtKB/Swiss-Prot (P16284.2); phosphorylation site"
     misc_feature    2395..2397
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:21464369; propagated from
                     UniProtKB/Swiss-Prot (P16284.2); phosphorylation site"
     polyA_site      3178
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="major polyA site"
     regulatory      3700..3705
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="hexamer: AATAAA"
     polyA_site      3725
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="major polyA site"
     regulatory      6788..6793
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
                     /note="hexamer: AATAAA"
     polyA_site      6813
                     /gene="PECAM1"
                     /gene_synonym="CD31; CD31/EndoCAM; endoCAM; GPIIA'; PECA1;
                     PECAM-1"
ORIGIN
        1 ggtttccagc catggctgcc attacctgac cagcgccaca gccggtctct ctgcaggcgc
       61 cgggagaagt gaccagagca atttctgctt ttcacagggc gggtttctca acggtgactt
      121 gtgggcagtg ccttctgctg agcgagtcat ggcccgaagg cagaactaac tgtgcctgca
      181 gtcttcactc tcaggatgca gccgaggtgg gcccaagggg ccacgatgtg gcttggagtc
      241 ctgctgaccc ttctgctctg ttcaagcctt gagggtcaag aaaactcttt cacaatcaac
      301 agtgttgaca tgaagagcct gccggactgg acggtgcaaa atgggaagaa cctgaccctg
      361 cagtgcttcg cggatgtcag caccacctct cacgtcaagc ctcagcacca gatgctgttc
      421 tataaggatg acgtgctgtt ttacaacatc tcctccatga agagcacaga gagttatttt
      481 attcctgaag tccggatcta tgactcaggg acatataaat gtactgtgat tgtgaacaac
      541 aaagagaaaa ccactgcaga gtaccaggtg ttggtggaag gagtgcccag tcccagggtg
      601 acactggaca agaaagaggc catccaaggt gggatcgtga gggtcaactg ttctgtccca
      661 gaggaaaagg ccccaataca cttcacaatt gaaaaacttg aactaaatga aaaaatggtc
      721 aagctgaaaa gagagaagaa ttctcgagac cagaattttg tgatactgga attccccgtt
      781 gaggaacagg accgcgtttt atccttccga tgtcaagcta ggatcatttc tgggatccat
      841 atgcagacct cagaatctac caagagtgaa ctggtcaccg tgacggaatc cttctctaca
      901 cccaagttcc acatcagccc caccggaatg atcatggaag gagctcagct ccacattaag
      961 tgcaccattc aagtgactca cctggcccag gagtttccag aaatcataat tcagaaggac
     1021 aaggcgattg tggcccacaa cagacatggc aacaaggctg tgtactcagt catggccatg
     1081 gtggagcaca gtggcaacta cacgtgcaaa gtggagtcca gccgcatatc caaggtcagc
     1141 agcatcgtgg tcaacataac agaactattt tccaagcccg aactggaatc ttccttcaca
     1201 catctggacc aaggtgaaag actgaacctg tcctgctcca tcccaggagc acctccagcc
     1261 aacttcacca tccagaagga agatacgatt gtgtcacaga ctcaagattt caccaagata
     1321 gcctcaaagt cggacagtgg gacgtatatc tgcactgcag gtattgacaa agtggtcaag
     1381 aaaagcaaca cagtccagat agtcgtatgt gaaatgctct cccagcccag gatttcttat
     1441 gatgcccagt ttgaggtcat aaaaggacag accatcgaag tccgttgcga atcgatcagt
     1501 ggaactttgc ctatttctta ccaactttta aaaacaagta aagttttgga gaatagtacc
     1561 aagaactcaa atgatcctgc ggtattcaaa gacaacccca ctgaagacgt cgaataccag
     1621 tgtgttgcag ataattgcca ttcccatgcc aaaatgttaa gtgaggttct gagggtgaag
     1681 gtgatagccc cggtggatga ggtccagatt tctatcctgt caagtaaggt ggtggagtct
     1741 ggagaggaca ttgtgctgca atgtgctgtg aatgaaggat ctggtcccat cacctataag
     1801 ttttacagag aaaaagaggg caaacccttc tatcaaatga cctcaaatgc cacccaggca
     1861 ttttggacca agcagaaggc tagcaaggaa caggagggag agtattactg cacagccttc
     1921 aacagagcca accacgcctc cagtgtcccc agaagcaaaa tactgacagt cagagtcatt
     1981 cttgccccat ggaagaaagg acttattgca gtggttatca tcggagtgat cattgctctc
     2041 ttgatcattg cggccaaatg ttattttctg aggaaagcca aggccaagca gatgccagtg
     2101 gaaatgtcca ggccagcagt accacttctg aactccaaca acgagaaaat gtcagatccc
     2161 aatatggaag ctaacagtca ttacggtcac aatgacgatg tcagaaacca tgcaatgaaa
     2221 ccaataaatg ataataaaga gcctctgaac tcagacgtgc agtacacgga agttcaagtg
     2281 tcctcagctg agtctcacaa agatctagga aagaaggaca cagagacagt gtacagtgaa
     2341 gtccggaaag ctgtccctga tgccgtggaa agcagatact ctagaacgga aggctccctt
     2401 gatggaactt agacagcaag gccagatgca catccctgga aggacatcca tgttccgaga
     2461 agaacagata atccctgtat ttcaagacct ctgtgcactt atttatgaac ctgccctgct
     2521 cccacagaac acagcaattc ctcaggctaa gctgccggtt cttaaatcca tcctgctaag
     2581 ttaatgttgg gtagaaagag atacagaggg gctgttgaat ttcccacata ccctccttcc
     2641 accaagttgg aacatccttg gaaattggaa gagcacaaga ggagatccag ggcaaggcca
     2701 ttgggatatt ctgaaacttg aatattttgt tttgtgcaga gataaagacc ttttccatgc
     2761 accctcatac acagaaacca attttctttt ttatactcaa tcatttctag cgcatggcct
     2821 ggttagaggc tggttttttc tcttttcctt tggtccttca aaggcttgta gttttggcta
     2881 gtccttgttc tttggaaata cacagtgctg accagacagc ctccccctgt cccctctatg
     2941 acctcgccct ccacaaatgg gaaaaccaga ctacttggga gcaccgcctg tgaaatacca
     3001 acctgaagac accgttcatt caggcaacgc acaaaacaga aaatgaaggt ggaacaagca
     3061 cagatgttct tcaactgttt ttgtctacac tctttctctt ttcctctacc atgctgaagg
     3121 ctgaaagaca ggaagatggt gccatcagca aatattattc ttaattgaaa acttgaaatg
     3181 tgtatgtttc ttactaattt ttaaaaatgt attccttgcc agggcaggca aggtggctca
     3241 cgcctgtaat cccagcactt caggaggctg aggtgggcgg atcacctgag gtcaggagtt
     3301 tgagaccagc ctgatgaaac cctgtctcta ctaaaaatac aagaattagc cgggcgtggt
     3361 ggcgcatgcc tgtagtatca gctactcaag aggctgaggt gagattatcg cttgaaccca
     3421 ggaaacggag gttgtagtga gcggagatcg cgccactgca ctccagcctg agtgacagag
     3481 tgagaatcca tctcaaaaaa aacaaaaaac aaaattgctt gctaaagaag tggtctcctg
     3541 aggtcttaag acattcctga cagtgtcttg agtgggtggg agagaggctg ctgtcattgc
     3601 gctgtggaat ttcacagatg agaaccacgc ctagccaaaa tcacttttcc tgtttgcctc
     3661 agtgacacag ctgcagggac cctcgtggat gttgtattaa ataaatttga cctttgctct
     3721 ttgcagatct gtgaaatgtt gtcttctgag gggccacatg catctatagt gctgaggact
     3781 ccttgggcct ctgaagtcac agagagaacc gagcaggtct atgtttttgt tttgttgttt
     3841 tgagacggag attcgctctt gttgcccggg ctggactgca gcggcgcaac ctctgctcac
     3901 tgcaacctcc gcctcctggg ttcaagcagt tctcctgtct cagcctcccg agtagctggg
     3961 attacaggca catgtcacca cgcctggcta atttttgtat ttttagtaga gatggggttt
     4021 caccacgttg gccaggctga tctcgaatgc ctgacctttg gtgatctgcc cgccttgtcc
     4081 tcatgtgtgc tccacaggcc tttgggttgg gattgcaggc gtgagccacc atgcccagcc
     4141 tagactcttt tgacaatatg atgaaagctg ttggttcctt tccccaacac acacacaccg
     4201 agttgtatca cgaaaatgtc atacaatttc caggttttct gagtggtggg ctcagattga
     4261 ggtcaaagga tcagacgacc tctaacgacc ttcatgtctc tgttgatgat ctggggacag
     4321 ccagatcccc tgtgtccagg gagttcctta gtcccttgcc accaccagag aagggcaatt
     4381 gccacgggag ctgcaaagac cctattccta ctcctggtgc cttacttatg cagcacgact
     4441 gaattttttg ttttgttttg ttttgttgag acaggggctt gctctgttgc ccaggctgga
     4501 gtgcagtggc acaacaatgg ctcaccgcag cctcgaaccc ctgggctcaa gcgatcctcc
     4561 catctcagct tcctgggtag ctgggaccag aggcgtgagc cgccatagct ggctaatttt
     4621 taattttttt tttgcagaga tgaggtttca ccatggtgcc caggctggtc tcgaacttct
     4681 gggctcaagt gatcctccct ccttggcctc gcaaagtgct gggattgcag gcatgagcca
     4741 ccgcccccgg cctgtggagc acacatgagt ttaaaattac tttcccttct gcctatattt
     4801 ccgaggagga aacttcatgc gcagggatct ttcttagtgg atttaatggc taaaaggtct
     4861 gtctgaatcc aggacgctgg ctttagcctt cctcggcagc tgccgtaacc ccggtgtcta
     4921 aacctgaagc atcccaggag cacccactcc aggagttttc tcggccgcgg aactcattag
     4981 ttagagcgcc ctcttgtgtt ctcatgtggt aatcggtcac tgaaggactt aaaatggtcc
     5041 ttagccaaca cacagtaaaa cttttccctc ttctgacccc aagaggtcag ccacccattt
     5101 catgagcata tactggtcgc cccatcagcg ttctctgatt ggctaactga acccactccc
     5161 cgacctagac tcaagacagg cgaagtgacg cttaggtcaa cattcactca ctaaagcaac
     5221 gactgtcggg cgattttgtc tcccgctggt tttggaatgg tgtctggaga catttttggt
     5281 tgtcacagct gggtgggtgt gctcccggca tctggtgggt agaaaccaag catgctccta
     5341 aacatcctac aggcacagaa ccgtctccca cgaccaagca tgatcaagtc ccaaatgcca
     5401 ataatggcca ggttgagaaa ctctgcacag aagcatccag ttatttgtct gtttgctcaa
     5461 caagcttgtg ctcatcatgc tctgtgttcc tgacgctgtg ctgggtgttg gcggtgggaa
     5521 gattacaaga gtcacatggc agctgtcctc ctggaaggta caacccagta gagatgcaga
     5581 ctaacagaga gccaattaca aagcagtgtg acaagcgtca tggtggaaaa ttaaaagctc
     5641 aaacaagggc acatgggagg ggcttccaac acagactttg ggggatccag gaaggtctaa
     5701 gaggaaagtg ggtctcacca aagccttgac cataggcaga gggtaccagt ggaaaaggtg
     5761 gggtgaagaa cattgaggac aaaaggaaga agtgcaggaa ggccctgagg caagggagtg
     5821 gggggtgccc tggagggatg gcagcagggc agtctgtcag acccaagtgg cctccagccc
     5881 tagaagccaa ttagtcctcc tcaaaaagct gtcactgtcc cctaagaatt gctgccaggc
     5941 tcccactggc ctgactcagt ctttgagagt cttaaggagg aggtctctga aaggtacaca
     6001 ccaagaactc tccccagcac agctgttttt aagactctcc accagcgtca ttggcgtgtt
     6061 gggaagaaac cctctgccac agaggccagc ttcagccttt gcctaacacc gcaagggcaa
     6121 atggaaaggt aaacgggaag gagatgtctc cccagcaggc tatttgagga cagtcttccc
     6181 tgcagaagat ctcaacctgg ggtccacaga gtggaaatgt tagagtaggg agctaggcaa
     6241 acatgagcag gacaggtgag ggcccccaca ggaatgtcag gctaccatca ggtgatggtc
     6301 aggtggttgt taaactgtct ctgtaaaata ataattggtt gcagccagct ccaagcaagg
     6361 acagtctctc aatagataca aaacaccctg atctggtgat cagccgcttc ccgataagat
     6421 ctcaggagct gggcaagcag cctggagcat gcgcaccaag aggcaaaatg gcggaattta
     6481 accagtatat gacctacctt cctctgggaa cgcacgactg gtaaggggaa aaatgcctca
     6541 agtgagcatg cgcgcaactt cagtaatcac actgtgcatg cgaccccttc caagtgctgg
     6601 caggtcacca catacgcgga cagcctgctg caagggaaga atcaggggag atgagacgta
     6661 aatcccagaa ctatgccaaa tacataaaac cccaagttaa gggtcaggca gggcacttag
     6721 atctctcaag ttgcctgcct gacccaagtg tagtgtactt ccttttgttc ctgctctaaa
     6781 actttttaat aaactctcac tcctgctcta aaa
//
LOCUS       NM_000443               4293 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens ATP binding cassette subfamily B member 4 (ABCB4),
            transcript variant A, mRNA.
ACCESSION   NM_000443
VERSION     NM_000443.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4293)
  AUTHORS   Thoeni C, Perciani CT, Nakib D, Camat D, McGilvray ID, MacParland SA
            and Fischer S.
  TITLE     Analysis of various ATP-binding cassette transporters revealed
            quantification of ABCB4 as a potential diagnostic tool in primary
            sclerosing cholangitis (PSC)
  JOURNAL   Histopathology 83 (4), 559-568 (2023)
   PUBMED   37488782
  REMARK    GeneRIF: Analysis of various ATP-binding cassette transporters
            revealed quantification of ABCB4 as a potential diagnostic tool in
            primary sclerosing cholangitis (PSC).
REFERENCE   2  (bases 1 to 4293)
  AUTHORS   Chen R, Yang FX, Tan YF, Deng M, Li H, Xu Y, Ouyang WX and Song YZ.
  TITLE     Clinical and genetic characterization of pediatric patients with
            progressive familial intrahepatic cholestasis type 3 (PFIC3):
            identification of 14 novel ABCB4 variants and review of the
            literatures
  JOURNAL   Orphanet J Rare Dis 17 (1), 445 (2022)
   PUBMED   36550572
  REMARK    GeneRIF: Clinical and genetic characterization of pediatric patients
            with progressive familial intrahepatic cholestasis type 3 (PFIC3):
            identification of 14 novel ABCB4 variants and review of the
            literatures. Review article Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4293)
  AUTHORS   Kruk B, Milkiewicz M, Raszeja-Wyszomirska J, Milkiewicz P and
            Krawczyk M.
  TITLE     A common variant in the hepatobiliary phospholipid transporter ABCB4
            modulates liver injury in PBC but not in PSC: prospective analysis
            in 867 patients
  JOURNAL   Orphanet J Rare Dis 17 (1), 419 (2022)
   PUBMED   36397154
  REMARK    GeneRIF: A common variant in the hepatobiliary phospholipid
            transporter ABCB4 modulates liver injury in PBC but not in PSC:
            prospective analysis in 867 patients. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 4293)
  AUTHORS   Nayagam JS, Foskett P, Strautnieks S, Agarwal K, Miquel R, Joshi D
            and Thompson RJ.
  TITLE     Clinical phenotype of adult-onset liver disease in patients with
            variants in ABCB4, ABCB11, and ATP8B1
  JOURNAL   Hepatol Commun 6 (10), 2654-2664 (2022)
   PUBMED   35894240
  REMARK    GeneRIF: Clinical phenotype of adult-onset liver disease in patients
            with variants in ABCB4, ABCB11, and ATP8B1.
REFERENCE   5  (bases 1 to 4293)
  AUTHORS   Smit JJ, Schinkel AH, Mol CA, Majoor D, Mooi WJ, Jongsma AP, Lincke
            CR and Borst P.
  TITLE     Tissue distribution of the human MDR3 P-glycoprotein
  JOURNAL   Lab Invest 71 (5), 638-649 (1994)
   PUBMED   7734012
  REMARK    Erratum:[Lab Invest 1995 Mar;72(3):followi]
REFERENCE   6  (bases 1 to 4293)
  AUTHORS   Amendola,M. and Squires,J.E.
  TITLE     Pediatric Genetic Cholestatic Liver Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   36108118
REFERENCE   7  (bases 1 to 4293)
  AUTHORS   Lincke CR, Smit JJ, van der Velde-Koerts T and Borst P.
  TITLE     Structure of the human MDR3 gene and physical mapping of the human
            MDR locus
  JOURNAL   J Biol Chem 266 (8), 5303-5310 (1991)
   PUBMED   2002063
REFERENCE   8  (bases 1 to 4293)
  AUTHORS   van der Bliek AM, Kooiman PM, Schneider C and Borst P.
  TITLE     Sequence of mdr3 cDNA encoding a human P-glycoprotein
  JOURNAL   Gene 71 (2), 401-411 (1988)
   PUBMED   2906314
REFERENCE   9  (bases 1 to 4293)
  AUTHORS   Van der Bliek AM, Baas F, Ten Houte de Lange T, Kooiman PM, Van der
            Velde-Koerts T and Borst P.
  TITLE     The human mdr3 gene encodes a novel P-glycoprotein homologue and
            gives rise to alternatively spliced mRNAs in liver
  JOURNAL   EMBO J 6 (11), 3325-3331 (1987)
   PUBMED   2892668
REFERENCE   10  (bases 1 to 4293)
  AUTHORS   Callen DF, Baker E, Simmers RN, Seshadri R and Roninson IB.
  TITLE     Localization of the human multiple drug resistance gene, MDR1, to
            7q21.1
  JOURNAL   Hum Genet 77 (2), 142-144 (1987)
   PUBMED   3477522
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M23234.1, SRR14038194.2284646.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000649586.2/ ENSP00000496956.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005068.2, AC006154.1 and
            AC005045.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000443.3.
            Summary: The membrane-associated protein encoded by this gene is a
            member of the superfamily of ATP-binding cassette (ABC)
            transporters.  ABC proteins transport various molecules across
            extra- and intra-cellular membranes.  ABC genes are divided into
            seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20,
            White).  This protein is a member of the MDR/TAP subfamily.
            Members of the MDR/TAP subfamily are involved in multidrug
            resistance as well as antigen presentation.  This gene encodes a
            full transporter and member of the p-glycoprotein family of
            membrane proteins with phosphatidylcholine as its substrate.  The
            function of this protein has not yet been determined; however, it
            may involve transport of phospholipids from liver hepatocytes into
            bile.  Alternative splicing of this gene results in several
            products of undetermined function. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (A) encodes the predominant
            isoform (A).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4293
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.12"
     gene            1..4293
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="ATP binding cassette subfamily B member 4"
                     /db_xref="GeneID:5244"
                     /db_xref="HGNC:HGNC:45"
                     /db_xref="MIM:171060"
     misc_feature    26
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="major transcription initiation site"
     CDS             54..3893
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /EC_number="7.6.2.1"
                     /note="isoform A is encoded by transcript variant A;
                     multiple drug resistance 3; P-glycoprotein-3/multiple drug
                     resistance-3; multidrug resistance protein 3;
                     P-glycoprotein 3; ATP-binding cassette sub-family B member
                     4; phosphatidylcholine translocator ABCB4; ATP-binding
                     cassette, sub-family B (MDR/TAP), member 4"
                     /codon_start=1
                     /product="phosphatidylcholine translocator ABCB4 isoform A"
                     /protein_id="NP_000434.1"
                     /db_xref="CCDS:CCDS5605.1"
                     /db_xref="GeneID:5244"
                     /db_xref="HGNC:HGNC:45"
                     /db_xref="MIM:171060"
                     /translation="MDLEAAKNGTAWRPTSAEGDFELGISSKQKRKKTKTVKMIGVLTL
                     FRYSDWQDKLFMSLGTIMAIAHGSGLPLMMIVFGEMTDKFVDTAGNFSFPVNFSLSLLN
                     PGKILEEEMTRYAYYYSGLGAGVLVAAYIQVSFWTLAAGRQIRKIRQKFFHAILRQEIG
                     WFDINDTTELNTRLTDDISKISEGIGDKVGMFFQAVATFFAGFIVGFIRGWKLTLVIMA
                     ISPILGLSAAVWAKILSAFSDKELAAYAKAGAVAEEALGAIRTVIAFGGQNKELERYQK
                     HLENAKEIGIKKAISANISMGIAFLLIYASYALAFWYGSTLVISKEYTIGNAMTVFFSI
                     LIGAFSVGQAAPCIDAFANARGAAYVIFDIIDNNPKIDSFSERGHKPDSIKGNLEFNDV
                     HFSYPSRANVKILKGLNLKVQSGQTVALVGSSGCGKSTTVQLIQRLYDPDEGTINIDGQ
                     DIRNFNVNYLREIIGVVSQEPVLFSTTIAENICYGRGNVTMDEIKKAVKEANAYEFIMK
                     LPQKFDTLVGERGAQLSGGQKQRIAIARALVRNPKILLLDEATSALDTESEAEVQAALD
                     KAREGRTTIVIAHRLSTVRNADVIAGFEDGVIVEQGSHSELMKKEGVYFKLVNMQTSGS
                     QIQSEEFELNDEKAATRMAPNGWKSRLFRHSTQKNLKNSQMCQKSLDVETDGLEANVPP
                     VSFLKVLKLNKTEWPYFVVGTVCAIANGGLQPAFSVIFSEIIAIFGPGDDAVKQQKCNI
                     FSLIFLFLGIISFFTFFLQGFTFGKAGEILTRRLRSMAFKAMLRQDMSWFDDHKNSTGA
                     LSTRLATDAAQVQGATGTRLALIAQNIANLGTGIIISFIYGWQLTLLLLAVVPIIAVSG
                     IVEMKLLAGNAKRDKKELEAAGKIATEAIENIRTVVSLTQERKFESMYVEKLYGPYRNS
                     VQKAHIYGITFSISQAFMYFSYAGCFRFGAYLIVNGHMRFRDVILVFSAIVFGAVALGH
                     ASSFAPDYAKAKLSAAHLFMLFERQPLIDSYSEEGLKPDKFEGNITFNEVVFNYPTRAN
                     VPVLQGLSLEVKKGQTLALVGSSGCGKSTVVQLLERFYDPLAGTVLLDGQEAKKLNVQW
                     LRAQLGIVSQEPILFDCSIAENIAYGDNSRVVSQDEIVSAAKAANIHPFIETLPHKYET
                     RVGDKGTQLSGGQKQRIAIARALIRQPQILLLDEATSALDTESEKVVQEALDKAREGRT
                     CIVIAHRLSTIQNADLIVVFQNGRVKEHGTHQQLLAQKGIYFSMVSVQAGTQNL"
     misc_feature    132..134
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P21440; propagated from
                     UniProtKB/Swiss-Prot (P21439.2); phosphorylation site"
     misc_feature    153..155
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:24723470; propagated from
                     UniProtKB/Swiss-Prot (P21439.2); phosphorylation site"
     misc_feature    204..272
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="propagated from UniProtKB/Swiss-Prot (P21439.2);
                     transmembrane region"
     misc_feature    324..326
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P21439.2); glycosylation site"
     misc_feature    342..344
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P21439.2); glycosylation site"
     misc_feature    408..470
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="propagated from UniProtKB/Swiss-Prot (P21439.2);
                     transmembrane region"
     misc_feature    618..683
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="propagated from UniProtKB/Swiss-Prot (P21439.2);
                     transmembrane region"
     misc_feature    705..767
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="propagated from UniProtKB/Swiss-Prot (P21439.2);
                     transmembrane region"
     misc_feature    942..1007
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="propagated from UniProtKB/Swiss-Prot (P21439.2);
                     transmembrane region"
     misc_feature    1050..1115
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="propagated from UniProtKB/Swiss-Prot (P21439.2);
                     transmembrane region"
     misc_feature    1926..1994
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="propagated from UniProtKB/Swiss-Prot (P21439.2);
                     Region: Interaction with HAX1. /evidence=ECO:0000250"
     misc_feature    2187..2249
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="propagated from UniProtKB/Swiss-Prot (P21439.2);
                     transmembrane region"
     misc_feature    2319..2381
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="propagated from UniProtKB/Swiss-Prot (P21439.2);
                     transmembrane region"
     misc_feature    2547..2609
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="propagated from UniProtKB/Swiss-Prot (P21439.2);
                     transmembrane region"
     misc_feature    2613..2672
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="propagated from UniProtKB/Swiss-Prot (P21439.2);
                     transmembrane region"
     misc_feature    2853..2921
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="propagated from UniProtKB/Swiss-Prot (P21439.2);
                     transmembrane region"
     misc_feature    2970..3035
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="propagated from UniProtKB/Swiss-Prot (P21439.2);
                     transmembrane region"
     regulatory      3918..3923
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="hexamer: AATAAA"
     polyA_site      3945
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="major polyA site"
     regulatory      4272..4277
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
                     /note="hexamer: AATAAA"
     polyA_site      4293
                     /gene="ABCB4"
                     /gene_synonym="ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3;
                     PFIC-3; PGY3"
ORIGIN
        1 agcgcccgcg cgtccagagg ccctgccaga cacgcgcgag gttcgaggct gagatggatc
       61 ttgaggcggc aaagaacgga acagcctggc gccccacgag cgcggagggc gactttgaac
      121 tgggcatcag cagcaaacaa aaaaggaaaa aaacgaagac agtgaaaatg attggagtat
      181 taacattgtt tcgatactcc gattggcagg ataaattgtt tatgtcgctg ggtaccatca
      241 tggccatagc tcacggatca ggtctccccc tcatgatgat agtatttgga gagatgactg
      301 acaaatttgt tgatactgca ggaaacttct cctttccagt gaacttttcc ttgtcgctgc
      361 taaatccagg caaaattctg gaagaagaaa tgactagata tgcatattac tactcaggat
      421 tgggtgctgg agttcttgtt gctgcctata tacaagtttc attttggact ttggcagctg
      481 gtcgacagat caggaaaatt aggcagaagt tttttcatgc tattctacga caggaaatag
      541 gatggtttga catcaacgac accactgaac tcaatacgcg gctaacagat gacatctcca
      601 aaatcagtga aggaattggt gacaaggttg gaatgttctt tcaagcagta gccacgtttt
      661 ttgcaggatt catagtggga ttcatcagag gatggaagct cacccttgtg ataatggcca
      721 tcagccctat tctaggactc tctgcagccg tttgggcaaa gatactctcg gcatttagtg
      781 acaaagaact agctgcttat gcaaaagcag gcgccgtggc agaagaggct ctgggggcca
      841 tcaggactgt gatagctttc gggggccaga acaaagagct ggaaaggtat cagaaacatt
      901 tagaaaatgc caaagagatt ggaattaaaa aagctatttc agcaaacatt tccatgggta
      961 ttgccttcct gttaatatat gcatcatatg cactggcctt ctggtatgga tccactctag
     1021 tcatatcaaa agaatatact attggaaatg caatgacagt ttttttttca atcctaattg
     1081 gagctttcag tgttggccag gctgccccat gtattgatgc ttttgccaat gcaagaggag
     1141 cagcatatgt gatctttgat attattgata ataatcctaa aattgacagt ttttcagaga
     1201 gaggacacaa accagacagc atcaaaggga atttggagtt caatgatgtt cacttttctt
     1261 acccttctcg agctaacgtc aagatcttga agggcctcaa cctgaaggtg cagagtgggc
     1321 agacggtggc cctggttgga agtagtggct gtgggaagag cacaacggtc cagctgatac
     1381 agaggctcta tgaccctgat gagggcacaa ttaacattga tgggcaggat attaggaact
     1441 ttaatgtaaa ctatctgagg gaaatcattg gtgtggtgag tcaggagccg gtgctgtttt
     1501 ccaccacaat tgctgaaaat atttgttatg gccgtggaaa tgtaaccatg gatgagataa
     1561 agaaagctgt caaagaggcc aacgcctatg agtttatcat gaaattacca cagaaatttg
     1621 acaccctggt tggagagaga ggggcccagc tgagtggtgg gcagaagcag aggatcgcca
     1681 ttgcacgtgc cctggttcgc aaccccaaga tccttctgct ggatgaggcc acgtcagcat
     1741 tggacacaga aagtgaagct gaggtacagg cagctctgga taaggccaga gaaggccgga
     1801 ccaccattgt gatagcacac cgactgtcta cggtccgaaa tgcagatgtc atcgctgggt
     1861 ttgaggatgg agtaattgtg gagcaaggaa gccacagcga actgatgaag aaggaagggg
     1921 tgtacttcaa acttgtcaac atgcagacat caggaagcca gatccagtca gaagaatttg
     1981 aactaaatga tgaaaaggct gccactagaa tggccccaaa tggctggaaa tctcgcctat
     2041 ttaggcattc tactcagaaa aaccttaaaa attcacaaat gtgtcagaag agccttgatg
     2101 tggaaaccga tggacttgaa gcaaatgtgc caccagtgtc ctttctgaag gtcctgaaac
     2161 tgaataaaac agaatggccc tactttgtcg tgggaacagt atgtgccatt gccaatgggg
     2221 ggcttcagcc ggcattttca gtcatattct cagagatcat agcgattttt ggaccaggcg
     2281 atgatgcagt gaagcagcag aagtgcaaca tattctcttt gattttctta tttctgggaa
     2341 ttatttcttt ttttactttc ttccttcagg gtttcacgtt tgggaaagct ggcgagatcc
     2401 tcaccagaag actgcggtca atggctttta aagcaatgct aagacaggac atgagctggt
     2461 ttgatgacca taaaaacagt actggtgcac tttctacaag acttgccaca gatgctgccc
     2521 aagtccaagg agccacagga accaggttgg ctttaattgc acagaatata gctaaccttg
     2581 gaactggtat tatcatatca tttatctacg gttggcagtt aaccctattg ctattagcag
     2641 ttgttccaat tattgctgtg tcaggaattg ttgaaatgaa attgttggct ggaaatgcca
     2701 aaagagataa aaaagaactg gaagctgctg gaaagattgc aacagaggca atagaaaata
     2761 ttaggacagt tgtgtctttg acccaggaaa gaaaatttga atcaatgtat gttgaaaaat
     2821 tgtatggacc ttacaggaat tctgtgcaga aggcacacat ctatggaatt acttttagta
     2881 tctcacaagc atttatgtat ttttcctatg ccggttgttt tcgatttggt gcatatctca
     2941 ttgtgaatgg acatatgcgc ttcagagatg ttattctggt gttttctgca attgtatttg
     3001 gtgcagtggc tctaggacat gccagttcat ttgctccaga ctatgctaaa gctaagctgt
     3061 ctgcagccca cttattcatg ctgtttgaaa gacaacctct gattgacagc tacagtgaag
     3121 aggggctgaa gcctgataaa tttgaaggaa atataacatt taatgaagtc gtgttcaact
     3181 atcccacccg agcaaacgtg ccagtgcttc aggggctgag cctggaggtg aagaaaggcc
     3241 agacactagc cctggtgggc agcagtggct gtgggaagag cacggtggtc cagctcctgg
     3301 agcggttcta cgaccccttg gcggggacag tgcttctcga tggtcaagaa gcaaagaaac
     3361 tcaatgtcca gtggctcaga gctcaactcg gaatcgtgtc tcaggagcct atcctatttg
     3421 actgcagcat tgccgagaat attgcctatg gagacaacag ccgggttgta tcacaggatg
     3481 aaattgtgag tgcagccaaa gctgccaaca tacatccttt catcgagacg ttaccccaca
     3541 aatatgaaac aagagtggga gataagggga ctcagctctc aggaggtcaa aaacagagga
     3601 ttgctattgc ccgagccctc atcagacaac ctcaaatcct cctgttggat gaagctacat
     3661 cagctctgga tactgaaagt gaaaaggttg tccaagaagc cctggacaaa gccagagaag
     3721 gccgcacctg cattgtgatt gctcaccgcc tgtccaccat ccagaatgca gacttaatag
     3781 tggtgtttca gaatgggaga gtcaaggagc atggcacgca tcagcagctg ctggcacaga
     3841 aaggcatcta tttttcaatg gtcagtgtcc aggctgggac acagaactta tgaacttttg
     3901 ctacagtata ttttaaaaat aaattcaaat tattctacca ttttatctga cttgtaaaat
     3961 aagtttctgg tttgtcatca taaaacatag gtatgtctgt ctcattctag atcaatttag
     4021 aagacccaat ttggggttta ttacggcatt tgaaatttga gagttagaag tgacacctgt
     4081 cttgatgaag tattgaaaca acaggctagc tctccctaag ttattagaaa catccagaaa
     4141 aagaacaaaa ttcaaggtaa gtacaggtgt agaaatatag aagccacaga catagggaaa
     4201 tggtcttatg gtcctgaatg ggttgggtag acaggaaagt ttgggaataa ttttcccaag
     4261 tacaaaagaa aaataaattg ttcaatagcc tca
//
LOCUS       NM_000444               6288 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens phosphate regulating endopeptidase X-linked (PHEX),
            transcript variant 1, mRNA.
ACCESSION   NM_000444
VERSION     NM_000444.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6288)
  AUTHORS   Ma J, Zhang Y, Ding X, Liang Z, Yang C, Deng Z, He H, Guan Z, Zeng
            C, Lin Y and Luo X.
  TITLE     Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked
            Hypophosphatemia in a Three-Generation Chinese Family
  JOURNAL   Calcif Tissue Int 113 (3), 266-275 (2023)
   PUBMED   37278761
  REMARK    GeneRIF: Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked
            Hypophosphatemia in a Three-Generation Chinese Family.
REFERENCE   2  (bases 1 to 6288)
  AUTHORS   Soto Barros J, Sanchez SI, Cabral K, Beggs AH, Agrawal PB, Genetti
            CA, Brownstein CA and Carpenter TO.
  TITLE     X-linked hypophosphatemia in 4 generations due to an exon 13-15
            duplication in PHEX, in the absence of the c.*231A>G variant
  JOURNAL   Bone 172, 116763 (2023)
   PUBMED   37059315
  REMARK    GeneRIF: X-linked hypophosphatemia in 4 generations due to an exon
            13-15 duplication in PHEX, in the absence of the c.*231A>G variant.
REFERENCE   3  (bases 1 to 6288)
  AUTHORS   Tavana N, Ting TH, Lai K, Kennerson ML and Thilakavathy K.
  TITLE     Whole exome sequencing identifies two novel variants in PHEX and
            DMP1 in Malaysian children with hypophosphatemic rickets
  JOURNAL   Ital J Pediatr 48 (1), 193 (2022)
   PUBMED   36482408
  REMARK    GeneRIF: Whole exome sequencing identifies two novel variants in
            PHEX and DMP1 in Malaysian children with hypophosphatemic rickets.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6288)
  AUTHORS   Aiello F, Pasquali D, Baronio F, Cassio A, Rossi C, Di Fraia R,
            Carotenuto R, Digitale L, Festa A, Luongo C, Maltoni G, Schiano di
            Cola R, Del Giudice EM and Grandone A.
  TITLE     Rare PHEX intron variant causes complete and severe phenotype in a
            family with hypophosphatemic rickets: a case report
  JOURNAL   J Pediatr Endocrinol Metab 36 (1), 91-95 (2022)
   PUBMED   36351286
  REMARK    GeneRIF: Rare PHEX intron variant causes complete and severe
            phenotype in a family with hypophosphatemic rickets: a case report.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6288)
  AUTHORS   Lipman ML, Panda D, Bennett HP, Henderson JE, Shane E, Shen Y,
            Goltzman D and Karaplis AC.
  TITLE     Cloning of human PEX cDNA. Expression, subcellular localization, and
            endopeptidase activity
  JOURNAL   J Biol Chem 273 (22), 13729-13737 (1998)
   PUBMED   9593714
REFERENCE   6  (bases 1 to 6288)
  AUTHORS   Beck L, Soumounou Y, Martel J, Krishnamurthy G, Gauthier C, Goodyer
            CG and Tenenhouse HS.
  TITLE     Pex/PEX tissue distribution and evidence for a deletion in the 3'
            region of the Pex gene in X-linked hypophosphatemic mice
  JOURNAL   J Clin Invest 99 (6), 1200-1209 (1997)
   PUBMED   9077527
REFERENCE   7  (bases 1 to 6288)
  AUTHORS   Grieff M, Mumm S, Waeltz P, Mazzarella R, Whyte MP, Thakker RV and
            Schlessinger D.
  TITLE     Expression and cloning of the human X-linked hypophosphatemia gene
            cDNA
  JOURNAL   Biochem Biophys Res Commun 231 (3), 635-639 (1997)
   PUBMED   9070861
REFERENCE   8  (bases 1 to 6288)
  AUTHORS   .
  TITLE     A gene (PEX) with homologies to endopeptidases is mutated in
            patients with X-linked hypophosphatemic rickets. The HYP Consortium
  JOURNAL   Nat Genet 11 (2), 130-136 (1995)
   PUBMED   7550339
REFERENCE   9  (bases 1 to 6288)
  AUTHORS   Ruppe,M.D.
  TITLE     X-Linked Hypophosphatemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   22319799
REFERENCE   10  (bases 1 to 6288)
  AUTHORS   Econs MJ, Pericak-Vance MA, Betz H, Bartlett RJ, Speer MC and
            Drezner MK.
  TITLE     The human glycine receptor: a new probe that is linked to the
            X-linked hypophosphatemic rickets gene
  JOURNAL   Genomics 7 (3), 439-441 (1990)
   PUBMED   2163973
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U82970.2, U75645.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379374.5/ ENSP00000368682.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Y10196.1, U82970.2, AD000712.1
            and AK298030.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000444.5.
            Summary: The protein encoded by this gene is a transmembrane
            endopeptidase that belongs to the type II integral membrane
            zinc-dependent endopeptidase family. The protein is thought to be
            involved in bone and dentin mineralization and renal phosphate
            reabsorption. Mutations in this gene cause X-linked
            hypophosphatemic rickets. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Sep 2013].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6288
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.11"
     gene            1..6288
                     /gene="PHEX"
                     /gene_synonym="HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH"
                     /note="phosphate regulating endopeptidase X-linked"
                     /db_xref="GeneID:5251"
                     /db_xref="HGNC:HGNC:8918"
                     /db_xref="MIM:300550"
     misc_feature    646..648
                     /gene="PHEX"
                     /gene_synonym="HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH"
                     /note="upstream in-frame stop codon"
     CDS             682..2931
                     /gene="PHEX"
                     /gene_synonym="HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH"
                     /note="isoform 1 is encoded by transcript variant 1;
                     phosphate regulating gene with homologies to endopeptidases
                     on the X chromosome (hypophosphatemia, vitamin D resistant
                     rickets); metalloendopeptidase homolog PEX; X-linked
                     hypophosphatemia protein; vitamin D-resistant
                     hypophosphatemic rickets protein; phosphate-regulating
                     neutral endopeptidase PHEX; phosphate regulating
                     endopeptidase homolog X-linked; PHEX peptidase"
                     /codon_start=1
                     /product="phosphate-regulating neutral endopeptidase PHEX
                     isoform 1"
                     /protein_id="NP_000435.3"
                     /db_xref="CCDS:CCDS14204.1"
                     /db_xref="GeneID:5251"
                     /db_xref="HGNC:HGNC:8918"
                     /db_xref="MIM:300550"
                     /translation="MEAETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGLL
                     SLQAKQEYCLKPECIEAAAAILSKVNLSVDPCDNFFRFACDGWISNNPIPEDMPSYGVY
                     PWLRHNVDLKLKELLEKSISRRRDTEAIQKAKILYSSCMNEKAIEKADAKPLLHILRHS
                     PFRWPVLESNIGPEGVWSERKFSLLQTLATFRGQYSNSVFIRLYVSPDDKASNEHILKL
                     DQATLSLAVREDYLDNSTEAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLRLEIKI
                     AEIMIPHENRTSEAMYNKMNISELSAMIPQFDWLGYIKKVIDTRLYPHLKDISPSENVV
                     VRVPQYFKDLFRILGSERKKTIANYLVWRMVYSRIPNLSRRFQYRWLEFSRVIQGTTTL
                     LPQWDKCVNFIESALPYVVGKMFVDVYFQEDKKEMMEELVEGVRWAFIDMLEKENEWMD
                     AGTKRKAKEKARAVLAKVGYPEFIMNDTHVNEDLKAIKFSEADYFGNVLQTRKYLAQSD
                     FFWLRKAVPKTEWFTNPTTVNAFYSASTNQIRFPAGELQKPFFWGTEYPRSLSYGAIGV
                     IVGHEFTHGFDNNGRKYDKNGNLDPWWSTESEEKFKEKTKCMINQYSNYYWKKAGLNVK
                     GKRTLGENIADNGGLREAFRAYRKWINDRRQGLEEPLLPGITFTNNQLFFLSYAHVRCN
                     SYRPEAAREQVQIGAHSPPQFRVNGAISNFEEFQKAFNCPPNSTMNRGMDSCRLW"
     misc_feature    742..804
                     /gene="PHEX"
                     /gene_synonym="HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH"
                     /note="propagated from UniProtKB/Swiss-Prot (P78562.1);
                     transmembrane region"
     misc_feature    892..894
                     /gene="PHEX"
                     /gene_synonym="HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78562.1); glycosylation site"
     misc_feature    1393..1395
                     /gene="PHEX"
                     /gene_synonym="HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78562.1); glycosylation site"
     misc_feature    1468..1470
                     /gene="PHEX"
                     /gene_synonym="HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78562.1); glycosylation site"
     misc_feature    1549..1551
                     /gene="PHEX"
                     /gene_synonym="HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78562.1); glycosylation site"
     misc_feature    1582..1584
                     /gene="PHEX"
                     /gene_synonym="HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78562.1); glycosylation site"
     misc_feature    1810..1812
                     /gene="PHEX"
                     /gene_synonym="HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78562.1); glycosylation site"
     misc_feature    2131..2133
                     /gene="PHEX"
                     /gene_synonym="HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78562.1); glycosylation site"
     misc_feature    2887..2889
                     /gene="PHEX"
                     /gene_synonym="HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78562.1); glycosylation site"
     regulatory      3319..3324
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHEX"
                     /gene_synonym="HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH"
                     /note="hexamer: ATTAAA"
     polyA_site      3339
                     /gene="PHEX"
                     /gene_synonym="HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH"
                     /note="major polyA site"
     regulatory      6267..6272
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHEX"
                     /gene_synonym="HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH"
                     /note="hexamer: AATAAA"
     polyA_site      6288
                     /gene="PHEX"
                     /gene_synonym="HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH"
                     /note="major polyA site"
ORIGIN
        1 aattgctact ttgcactgca ctggactatg actgattttt ggcacatgct atcatacaca
       61 aagttcctga aataaaatgc tccaggatat cctaggaact cttagaaggc tttaaaaagg
      121 gactcacaca ctgaaagaat atctttgatg aagacaattc aggcaagcag aatgattctt
      181 gcaacagaat tacatgatta attgagatct tgaagtgggt ccggtgaatc ctggccacct
      241 aacttatcat gatttggggg agtttcacga gaatccagtt ttgataaaac aattgttttt
      301 ttcctcccca agtgactata catttaaata gctaaaacat ctgttcagca acatagtaaa
      361 acatatatac tcggaacgct tgagagaaga gcctgccaaa cagggacttt gctgagggag
      421 agcaccaaga taaagcaaca ctgtttgttt tgtctagtca gggggaaagc caaggcaacc
      481 aatattttgg tttttataat tttcatttgt gaagaattat ttgagaaagg gtggcgaggg
      541 gagatttcct gacggcagtt tcttaagctg tccattagta gaagagcaag aaagccttgg
      601 atgtcaacgc ctcgctcttg agaccagcca ccaaaccacg aaaagtgact ttcttctcgt
      661 gtgctctcta cggcccttct gatggaagca gaaacaggga gcagcgtgga gactggaaag
      721 aaggccaaca gaggcactcg aattgccctg gtcgtgtttg tcggtggcac cctagttctg
      781 ggcacgatcc tctttctagt gagtcaaggt ctcttaagtc tccaagctaa acaggagtac
      841 tgcctgaagc cagaatgcat cgaagcggct gctgccatct taagtaaagt aaatctgtct
      901 gtggatcctt gtgataattt cttccggttc gcttgtgatg gctggataag caataatcca
      961 attcccgaag atatgccaag ctatggggtt tatccttggc tgagacataa tgttgacctc
     1021 aagttgaagg aacttttgga gaaatcaatc agtagaaggc gggacaccga agccatacag
     1081 aaagccaaaa tcctttattc atcctgcatg aatgagaaag cgattgaaaa agcagatgcc
     1141 aagccactgc tacacatcct acggcattca cctttccgct ggcccgtgct tgaatctaat
     1201 attggccctg aaggggtttg gtcagagaga aagttcagcc ttctgcagac acttgcaacg
     1261 tttcgtggtc aatacagcaa ttctgtgttc atccgtttgt atgtgtcccc tgatgacaaa
     1321 gcatccaatg aacatatctt gaagctggac caagcaacac tctccctggc cgtgagggaa
     1381 gactaccttg ataacagtac agaagccaag tcttatcggg atgcccttta caagttcatg
     1441 gtggatactg ccgtgctttt aggagctaac agttccagag cagagcatga catgaagtca
     1501 gtgctcagat tggaaattaa gatagctgag ataatgattc cacatgaaaa ccgaaccagc
     1561 gaggccatgt acaacaaaat gaacatttct gaactgagtg ctatgattcc ccagttcgac
     1621 tggctgggct acatcaagaa ggtcattgac accagactct acccccatct gaaagacatc
     1681 agcccctccg agaatgtggt ggtccgcgtc ccgcagtact ttaaagattt gtttaggata
     1741 ttagggtctg agagaaagaa gaccattgcc aactatttgg tgtggagaat ggtttattcc
     1801 agaattccaa accttagcag gcgctttcag tatagatggc tggaattctc aagggtaatc
     1861 caggggacca caactttgct gcctcaatgg gacaaatgtg taaactttat tgaaagtgcc
     1921 ctcccttatg ttgttggaaa gatgtttgta gatgtgtact tccaggaaga taagaaggaa
     1981 atgatggagg aattggttga gggcgttcgc tgggccttta ttgacatgct agagaaagaa
     2041 aatgagtgga tggatgcagg aacgaaaagg aaagccaaag aaaaggcgag agctgttttg
     2101 gcaaaagttg gctatccaga gtttataatg aatgatactc atgttaatga agacctcaaa
     2161 gctatcaagt tttcagaagc cgactacttt ggcaacgtcc tacaaactcg caagtattta
     2221 gcacagtctg atttcttctg gctaagaaaa gccgttccaa aaacagagtg gtttacaaat
     2281 ccgacgactg tcaatgcctt ctacagtgca tccaccaacc agatccgatt tccagcagga
     2341 gagctccaga agcctttctt ttggggaaca gaatatcctc gatctctgag ttatggtgct
     2401 ataggagtaa ttgtcggaca tgaatttaca catggatttg ataataatgg tagaaaatat
     2461 gataaaaatg gaaacctgga tccttggtgg tctactgaat cagaagaaaa gtttaaggaa
     2521 aaaacaaaat gcatgattaa ccagtatagc aactattatt ggaagaaagc tggcttaaat
     2581 gtcaagggga agaggaccct gggagaaaat attgctgata atggaggcct gcgggaagct
     2641 tttagggctt acaggaaatg gataaatgac agaaggcagg gacttgagga gcctcttcta
     2701 ccaggcatca cattcaccaa caaccagctc ttcttcctga gttatgctca tgtgaggtgc
     2761 aattcctaca gaccagaagc tgcccgagaa caagtccaaa ttggtgctca cagtccccct
     2821 cagtttaggg tcaatggtgc aattagtaac tttgaagaat tccagaaagc ttttaactgt
     2881 ccacccaatt ccacgatgaa cagaggcatg gactcctgcc gactctggta gctgggacgc
     2941 tggtttatgg catcctgaga cagttgcaca gtgccagcgg aggctgcact gagccttcat
     3001 cgcccattgc tttaggcctg gagactttca tttttagtgc attttcatta tttgggtagg
     3061 tgacctgctt ggatctagac agcatctgtt caaagttgta gggcttataa agtggaatat
     3121 aagaatgaac taagtatgtt tctttagaaa atcaaaccaa caaaaataaa tccctaggct
     3181 acttttgtta aaatgctatc tgctaaattg ttgctattgt ccattttagg gtgttggcca
     3241 cagttatgtg gtacatagca tttcaatcta tagctttgtg ggaagcctaa attgatgtat
     3301 cctttaaaag ttcaatctat taaacttgta gcctctcaat gatgaagaca tgtgcatgaa
     3361 tacctgggag ggcttgctgc tctgtggaat gcagtgcacg tttttatgga cagtaattac
     3421 acagcattcc tcaactgtaa ggtagttaaa ttagaaatat gtttgatctc cattttacac
     3481 tttttgatga agttcttgcc ttcagctttg gagtctgttg gaatgaaact gtgtctcaca
     3541 gcttgcatct gatgtagcag attgccctgt tcaagtcagc atgaacaaag ctcgcagaaa
     3601 ggctactagg taacggattt gagtttattc agtagaaaaa aagggaatga ggacatatct
     3661 ttaggtccca gaagcagcaa aacctcctag ttacataaca gcagggaaac taggagatga
     3721 aatctccaaa attttgtcca gtctgtatga actgcagtga ttgtctgtct gctagacact
     3781 tttttttagc ctaattcttg ttcgtttcat taccttcata tgtgtgcatt gtactggttt
     3841 tgaaatgagc agacattgag aaaacaattt tctgattccc cattaggaac atatgatttt
     3901 catttccctt tagtgcaaag gaacaaacat cacattgagg agggagaagt gtacccttct
     3961 ttttcagctt aatgttacct ctctttaaaa aaaaaacatt tttgaaaaat ttcttgactg
     4021 atgacattct agaatttatt gattcaattt aaaattccct gcatagtcca aataaacata
     4081 atttttactc ttcaagtcat ctaaagagtt gtgagaaaga gcagtactat gtgttttatc
     4141 cttagagcat tatccttcta agtgaactcc tttcttatta ctgagcgtgt gtgtgtgtgt
     4201 gtgtgtgtgt gtgtgtgtag gataaaattg taatggcctt aaagttgtta cctggcattt
     4261 ttggtttctt aaaataggca tccccctact ccctttacat tattcattag acatgaggtg
     4321 ctgggttaag tgggccaata ggaaaatctc aaaagcaaaa tgacaaattc agattaacca
     4381 caggaagcca ttgtgtgtcc ctgtgatttg tgattctttt aaaaaaaaaa aaaatatata
     4441 tatatatata tatatatata tatatgtata tctacctaag tgtgtgccat gtccttttgt
     4501 agccatggga acgtttgaat ggagaaaaat ggaggggcac catcatgagg aaacaattat
     4561 actgcattag tcagaggaga gcgattttcc ctttgacttc ttcctctctg aatggataaa
     4621 cttgtgaagg gcagctacct tgtcctcctc ttaacctggc ttaatgtgac cttagtttgt
     4681 atttccaaaa acaagcagta ttaggttgga attgtatgtg tcttttctct ggaggaagca
     4741 ttctgacttg gtttagacat ataagatact ctgttttatt cctggacttg ggtgtttaaa
     4801 atcagctgag gtttatcatg cttatatgaa tagtgtttcc cttctagatt tcctttataa
     4861 actccaaata aacacattcc tgcaggtcag agaaagtgtt tgataaaagc atagaattat
     4921 ggctttggaa agacaaacta agtcacttgt tggtttagca aaactggttg gtgattagtt
     4981 ggggccctca cagtttctag atgagaagct taccttatcc tgattaactt tacttgctgt
     5041 aactgttata ccgaaaattg taggtaggat gtccattact caaacaaagc agaacaaaac
     5101 aacaaaccaa aagcagcaat accaaatcat cactactagc tagaacaatg agaaggattg
     5161 aatttccaaa tacatgctta tgtttaactc aactcttcca attacattct cattgtcctt
     5221 tctcttggat accgattgct aagataaaca gacactgatt aagtggtaga aagagaaagg
     5281 taaaatgcaa ctggaaggga aagaaaaaag tagggagaag ctggcctatg gatgtggctt
     5341 tgaagagaag acaggatttt ggcattcctt gctaagcacg ttcaatggag gagagccatg
     5401 aagttttaca aaaataatta tggtaaatta aaaggatatt agatattgga tctcagacta
     5461 gggctgctat aatacagttc tctgattcgc acaccagatg ttctgccagc gaactgttgt
     5521 ctgggcattg gaaggagtta ggttttttgt gtttgtgaaa atctcctgga ttagtaaaaa
     5581 aattttctag atataaagtg gttttatttg ggctcatgac cattgcccaa agtgtactga
     5641 gcttttcact aagtgctcag cattggcctc ctgttctcat ttattcattt tatgagatgg
     5701 acttggacat cactaatgca aacacaggat tcataaatta ttctgaagtt tatttagtgc
     5761 cttgcctcaa tggagcttaa agcatagcac ataaatttta tcttatttag ccctggagca
     5821 tcactaagaa gcagctagga actatggctt gccagacaga ttatgcttgt gccagagaag
     5881 tggagaagcc tgaaatccct tgtcaagtat tccacaggaa ggaaaggtag tctttgggct
     5941 ttggtctact gacctgtgga ttaaactcta tcccttagat tatcccattt ctaaatacat
     6001 ttattcaatc agtatttcta taatcactta gcatttgata ggcttcttcc ttgatacatt
     6061 taacataacg cctcagttgc atattacatt atggaagaat atacgattgc ttcatataac
     6121 aacattctca tcaccagtga cagtgtccta ctggtttgaa gaaagatatt cttggattat
     6181 gtgttttata tctaaatggt tattctgaga ctggttgtat tttcttctcc tactcgtgaa
     6241 acgatgtgaa caagcatttt aaggacaata aaaagttagc tggttgaa
//
LOCUS       NM_000446               2393 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens paraoxonase 1 (PON1), mRNA.
ACCESSION   NM_000446
VERSION     NM_000446.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2393)
  AUTHORS   Zuin M, Rosta V, Trentini A, Bosi C, Zuliani G and Cervellati C.
  TITLE     Paraoxonase 1 activity in patients with Alzheimer disease:
            Systematic review and meta-analysis
  JOURNAL   Chem Biol Interact 382, 110601 (2023)
   PUBMED   37330180
  REMARK    GeneRIF: Paraoxonase 1 activity in patients with Alzheimer disease:
            Systematic review and meta-analysis.
REFERENCE   2  (bases 1 to 2393)
  AUTHORS   Mahrooz A, Khosravi-Asrami OF, Alizadeh A, Mohmmadi N, Bagheri A,
            Kashi Z, Bahar A, Nosrati M and Mackness M.
  TITLE     Can HDL cholesterol be replaced by paraoxonase 1 activity in the
            prediction of severe coronary artery disease in patients with type 2
            diabetes?
  JOURNAL   Nutr Metab Cardiovasc Dis 33 (8), 1599-1607 (2023)
   PUBMED   37344284
  REMARK    GeneRIF: Can HDL cholesterol be replaced by paraoxonase 1 activity
            in the prediction of severe coronary artery disease in patients with
            type 2 diabetes?
REFERENCE   3  (bases 1 to 2393)
  AUTHORS   Djekic S, Vekic J, Zeljkovic A, Kotur-Stevuljevic J, Kafedzic S,
            Zdravkovic M, Ilic I, Hinic S, Cerovic M, Stefanovic M, Mihajlovic
            M, Neskovic A and Bogavac-Stanojevic N.
  TITLE     HDL Subclasses and the Distribution of Paraoxonase-1 Activity in
            Patients with ST-Segment Elevation Acute Myocardial Infarction
  JOURNAL   Int J Mol Sci 24 (11), 9384 (2023)
   PUBMED   37298334
  REMARK    GeneRIF: HDL Subclasses and the Distribution of Paraoxonase-1
            Activity in Patients with ST-Segment Elevation Acute Myocardial
            Infarction. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2393)
  AUTHORS   Menezes JF, Carvalho MOS, Rocha LC, Dos Santos FM, Adorno EV, de
            Souza CC, Santiago RP, da Guarda CC, de Oliveira RM, Figueiredo CVB,
            Carvalho SP, Yahouedehou SCMA, Fiuza LM, Adanho CSA, Pitanga TN,
            Lyra IM, Nascimento VML, Noronha-Dutra AA and Goncalves MS.
  TITLE     Role of paraoxonase 1 activity and PON1 gene polymorphisms in sickle
            cell disease
  JOURNAL   Sci Rep 13 (1), 7215 (2023)
   PUBMED   37137941
  REMARK    GeneRIF: Role of paraoxonase 1 activity and PON1 gene polymorphisms
            in sickle cell disease. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2393)
  AUTHORS   Jakubowski H.
  TITLE     Proteomic Exploration of Paraoxonase 1 Function in Health and
            Disease
  JOURNAL   Int J Mol Sci 24 (9), 7764 (2023)
   PUBMED   37175471
  REMARK    GeneRIF: Proteomic Exploration of Paraoxonase 1 Function in Health
            and Disease. Review article Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2393)
  AUTHORS   Sorenson RC, Primo-Parmo SL, Kuo CL, Adkins S, Lockridge O and La Du
            BN.
  TITLE     Reconsideration of the catalytic center and mechanism of mammalian
            paraoxonase/arylesterase
  JOURNAL   Proc Natl Acad Sci U S A 92 (16), 7187-7191 (1995)
   PUBMED   7638166
REFERENCE   7  (bases 1 to 2393)
  AUTHORS   Furlong CE, Richter RJ, Chapline C and Crabb JW.
  TITLE     Purification of rabbit and human serum paraoxonase
  JOURNAL   Biochemistry 30 (42), 10133-10140 (1991)
   PUBMED   1718413
REFERENCE   8  (bases 1 to 2393)
  AUTHORS   Hassett C, Richter RJ, Humbert R, Chapline C, Crabb JW, Omiecinski
            CJ and Furlong CE.
  TITLE     Characterization of cDNA clones encoding rabbit and human serum
            paraoxonase: the mature protein retains its signal sequence
  JOURNAL   Biochemistry 30 (42), 10141-10149 (1991)
   PUBMED   1657140
REFERENCE   9  (bases 1 to 2393)
  AUTHORS   Gan KN, Smolen A, Eckerson HW and La Du BN.
  TITLE     Purification of human serum paraoxonase/arylesterase. Evidence for
            one esterase catalyzing both activities
  JOURNAL   Drug Metab Dispos 19 (1), 100-106 (1991)
   PUBMED   1673382
REFERENCE   10  (bases 1 to 2393)
  AUTHORS   Ortigoza-Ferado,J., Richter,R.J., Hornung,S.K., Motulsky,A.G. and
            Furlong,C.E.
  TITLE     Paraoxon hydrolysis in human serum mediated by a genetically
            variable arylesterase and albumin
  JOURNAL   Am J Hum Genet 36 (2), 295-305 (1984)
   PUBMED   6324579
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: D84371.1, U53784.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA1968832
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000222381.8/ ENSP00000222381.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BJ993711.1, BC074719.2,
            M63014.1, AV652982.1 and AC004022.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000446.6.
            Summary: This gene encodes a member of the paraoxonase family of
            enzymes and exhibits lactonase and ester hydrolase activity.
            Following synthesis in the kidney and liver, the enzyme is secreted
            into the circulation, where it binds to high density lipoprotein
            (HDL) particles and hydrolyzes thiolactones and xenobiotics,
            including paraoxon, a metabolite of the insecticide parathion.
            Polymorphisms in this gene may be associated with coronary artery
            disease and diabetic retinopathy. The gene is found in a cluster of
            three related paraoxonase genes on chromosome 7. [provided by
            RefSeq, Aug 2017].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2393
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.3"
     gene            1..2393
                     /gene="PON1"
                     /gene_synonym="ESA; MVCD5; PON"
                     /note="paraoxonase 1"
                     /db_xref="GeneID:5444"
                     /db_xref="HGNC:HGNC:9204"
                     /db_xref="MIM:168820"
     misc_feature    10..12
                     /gene="PON1"
                     /gene_synonym="ESA; MVCD5; PON"
                     /note="upstream in-frame stop codon"
     CDS             58..1125
                     /gene="PON1"
                     /gene_synonym="ESA; MVCD5; PON"
                     /EC_number="3.1.1.2"
                     /EC_number="3.1.8.1"
                     /EC_number="3.1.1.81"
                     /note="esterase A; serum paraoxonase/arylesterase 1; serum
                     aryldiakylphosphatase; paraoxonase B-type; arylesterase
                     B-type; K-45; PON 1; A-esterase 1; aromatic esterase 1;
                     serum aryldialkylphosphatase 1"
                     /codon_start=1
                     /product="serum paraoxonase/arylesterase 1 precursor"
                     /protein_id="NP_000437.3"
                     /db_xref="CCDS:CCDS5638.1"
                     /db_xref="GeneID:5444"
                     /db_xref="HGNC:HGNC:9204"
                     /db_xref="MIM:168820"
                     /translation="MAKLIALTLLGMGLALFRNHQSSYQTRLNALREVQPVELPNCNLV
                     KGIETGSEDLEILPNGLAFISSGLKYPGIKSFNPNSPGKILLMDLNEEDPTVLELGITG
                     SKFDVSSFNPHGISTFTDEDNAMYLLVVNHPDAKSTVELFKFQEEEKSLLHLKTIRHKL
                     LPNLNDIVAVGPEHFYGTNDHYFLDPYLQSWEMYLGLAWSYVVYYSPSEVRVVAEGFDF
                     ANGINISPDGKYVYIAELLAHKIHVYEKHANWTLTPLKSLDFNTLVDNISVDPETGDLW
                     VGCHPNGMKIFFYDSENPPASEVLRIQNILTEEPKVTQVYAENGTVLQGSTVASVYKGK
                     LLIGTVFHKALYCEL"
     sig_peptide     58..102
                     /gene="PON1"
                     /gene_synonym="ESA; MVCD5; PON"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    814..816
                     /gene="PON1"
                     /gene_synonym="ESA; MVCD5; PON"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (P27169.3);
                     glycosylation site"
     misc_feature    865..867
                     /gene="PON1"
                     /gene_synonym="ESA; MVCD5; PON"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P27169.3); glycosylation site"
     misc_feature    1027..1029
                     /gene="PON1"
                     /gene_synonym="ESA; MVCD5; PON"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P27169.3); glycosylation site"
     regulatory      1349..1354
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PON1"
                     /gene_synonym="ESA; MVCD5; PON"
                     /note="hexamer: CATAAA"
     polyA_site      1371
                     /gene="PON1"
                     /gene_synonym="ESA; MVCD5; PON"
                     /note="major polyA site"
     regulatory      1402..1407
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PON1"
                     /gene_synonym="ESA; MVCD5; PON"
                     /note="hexamer: ATTAAA"
     polyA_site      1428
                     /gene="PON1"
                     /gene_synonym="ESA; MVCD5; PON"
                     /note="major polyA site"
     regulatory      1686..1691
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PON1"
                     /gene_synonym="ESA; MVCD5; PON"
                     /note="hexamer: AGTAAA"
     polyA_site      1712
                     /gene="PON1"
                     /gene_synonym="ESA; MVCD5; PON"
                     /note="major polyA site"
     regulatory      2056..2061
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PON1"
                     /gene_synonym="ESA; MVCD5; PON"
                     /note="hexamer: AATAGA"
     polyA_site      2075
                     /gene="PON1"
                     /gene_synonym="ESA; MVCD5; PON"
ORIGIN
        1 agagcctcct agcccgtcgg tgtctgcgcc catcgatccc tttgtctatc cccgaccatg
       61 gcgaagctga ttgcgctcac cctcttgggg atgggactgg cactcttcag gaaccaccag
      121 tcttcttacc aaacacgact taatgctctc cgagaggtac aacccgtaga acttcctaac
      181 tgtaatttag ttaaaggaat cgaaactggc tctgaagact tggagatact gcctaatgga
      241 ctggctttca ttagctctgg attaaagtat cctggaataa agagcttcaa ccccaacagt
      301 cctggaaaaa tacttctgat ggacctgaat gaagaagatc caacagtgtt ggaattgggg
      361 atcactggaa gtaaatttga tgtatcttca tttaaccctc atgggattag cacattcaca
      421 gatgaagata atgccatgta cctcctggtg gtgaaccatc cagatgccaa gtccacagtg
      481 gagttgttta aatttcaaga agaagaaaaa tcgcttttgc atctaaaaac catcagacat
      541 aaacttctgc ctaatttgaa tgatattgtt gctgtgggac ctgagcactt ttatggcaca
      601 aatgatcact attttcttga cccctactta caatcctggg agatgtattt gggtttagcg
      661 tggtcgtatg ttgtctacta tagtccaagt gaagttcgag tggtggcaga aggatttgat
      721 tttgctaatg gaatcaacat ttcacccgat ggcaagtatg tctatatagc tgagttgctg
      781 gctcataaga ttcatgtgta tgaaaagcat gctaattgga ctttaactcc attgaagtcc
      841 cttgacttta ataccctcgt ggataacata tctgtggatc ctgagacagg agacctttgg
      901 gttggatgcc atcccaatgg catgaaaatc ttcttctatg actcagagaa tcctcctgca
      961 tcagaggtgc ttcgaatcca gaacattcta acagaagaac ctaaagtgac acaggtttat
     1021 gcagaaaatg gcacagtgtt gcaaggcagt acagttgcct ctgtgtacaa agggaaactg
     1081 ctgattggca cagtgtttca caaagctctt tactgtgagc tctaacagac cgatttgcac
     1141 ccatgccata gaaactgagg ccattatttc aaccgcttgc catattccga ggacccagtg
     1201 ttcttagctg aacaatgaat gctgacccta aatgtggaca tcatgaagca tcaaagcact
     1261 gtttaactgg gagtgatatg atgtgtaggg cttttttttg agaatacact atcaaatcag
     1321 tcttggaata cttgaaaacc tcatttacca taaaaatcct tctcactaaa atggataaat
     1381 cagttatgtc aattgtcaga tattaaataa cagtgtgtga ccccaaaagt acttacccta
     1441 aaacatgtgt tgcctggaag cacatgtgtg tatcgctgcc ttgccatgtc ttgttcagaa
     1501 gacacagggg agcagggtta gctcacgtgt ctttagaact ccagtactca cccagggact
     1561 ccagttcaca ggccagaaaa catatgcatt atgaagttcc cctctactcc atgcacatag
     1621 taagtctgac tatggcagtc agacttactt actcccattt tcccttcgat atatgacttt
     1681 ttctcagtaa atattaacct gaattattcc aactcccctt gtactcttgc tttttcaatt
     1741 ctcctgttgc aatgacacat aggaaaatct taaaattctt gggagtgttg tcacacctga
     1801 aaattatgag tctctatgat cttggcacaa attgtacatt tgagtgtctt tgacttggtt
     1861 aaaggaagtt tgttcacttc gatgactgga tacagaatga atcccataat tgacatgggc
     1921 gaagctaaaa gtgtccccaa agactacact gttgttgagg tggtggtagt gctggtgggt
     1981 ttttgtttaa tatttaaact tcttgttgtg gaggctgaaa agaaaaaaaa taatagaaag
     2041 gtaaacaaac aaataaatag aaaagatcaa caaccccttt ggctatctac tgagacatga
     2101 ctaggaagaa aacatgactt tatcattttg ttatagaaac tgatatataa aggttacaca
     2161 ttttcattta tttgtttttc tgatttgaag gtataacctt catgatgaat tacttcttca
     2221 gggtgttaag gcagtgactt tagaaacaaa tttttttctt gtttttgttt tgtttttgag
     2281 accgaatctc actctgttgc ccaggctgga gtgcagtggt gcgatcttgg ctcactgcaa
     2341 cttctacctc cgaggttcaa gagattcttg tgcctcagcc tcccggatag ctg
//
LOCUS       NM_000447               2249 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens presenilin 2 (PSEN2), transcript variant 1, mRNA.
ACCESSION   NM_000447
VERSION     NM_000447.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2249)
  AUTHORS   Schmidt FC, Fitz K, Feilen LP, Okochi M, Steiner H and Langosch D.
  TITLE     Different transmembrane domains determine the specificity and
            efficiency of the cleavage activity of the gamma-secretase subunit
            presenilin
  JOURNAL   J Biol Chem 299 (5), 104626 (2023)
   PUBMED   36944398
  REMARK    GeneRIF: Different transmembrane domains determine the specificity
            and efficiency of the cleavage activity of the gamma-secretase
            subunit presenilin.
REFERENCE   2  (bases 1 to 2249)
  AUTHORS   Course MM, Gudsnuk K, Keene CD, Bird TD, Jayadev S and Valdmanis PN.
  TITLE     Aberrant splicing of PSEN2, but not PSEN1, in individuals with
            sporadic Alzheimer's disease
  JOURNAL   Brain 146 (2), 507-518 (2023)
   PUBMED   35949106
  REMARK    GeneRIF: Aberrant splicing of PSEN2, but not PSEN1, in individuals
            with sporadic Alzheimer's disease.
REFERENCE   3  (bases 1 to 2249)
  AUTHORS   Xiao X, Liu H, Zhou L, Liu X, Xu T, Zhu Y, Yang Q, Hao X, Liu Y,
            Zhang W, Zhou Y, Wang J, Li J, Jiao B, Shen L and Liao X.
  TITLE     The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's
            disease: A large case-control study in Chinese population
  JOURNAL   CNS Neurosci Ther 29 (1), 122-128 (2023)
   PUBMED   36217304
  REMARK    GeneRIF: The associations of APP, PSEN1, and PSEN2 genes with
            Alzheimer's disease: A large case-control study in Chinese
            population.
REFERENCE   4  (bases 1 to 2249)
  AUTHORS   Dong L, Liu C, Sha L, Mao C, Li J, Huang X, Wang J, Chu S, Peng B,
            Cui L, Xu Q and Gao J.
  TITLE     PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations
            in Alzheimer's Disease: Data from PUMCH Dementia Cohort
  JOURNAL   J Alzheimers Dis 87 (4), 1549-1556 (2022)
   PUBMED   35491795
  REMARK    GeneRIF: PSEN2 Mutation Spectrum and Novel Functionally Validated
            Mutations in Alzheimer's Disease: Data from PUMCH Dementia Cohort.
REFERENCE   5  (bases 1 to 2249)
  AUTHORS   Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y,
            Chi H, Lin C, Holman K, Tsuda T et al.
  TITLE     Familial Alzheimer's disease in kindreds with missense mutations in
            a gene on chromosome 1 related to the Alzheimer's disease type 3
            gene
  JOURNAL   Nature 376 (6543), 775-778 (1995)
   PUBMED   7651536
REFERENCE   6  (bases 1 to 2249)
  AUTHORS   Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell
            WH, Yu CE, Jondro PD, Schmidt SD, Wang K et al.
  TITLE     Candidate gene for the chromosome 1 familial Alzheimer's disease
            locus
  JOURNAL   Science 269 (5226), 973-977 (1995)
   PUBMED   7638622
REFERENCE   7  (bases 1 to 2249)
  AUTHORS   Levy-Lahad E, Wijsman EM, Nemens E, Anderson L, Goddard KA, Weber
            JL, Bird TD and Schellenberg GD.
  TITLE     A familial Alzheimer's disease locus on chromosome 1
  JOURNAL   Science 269 (5226), 970-973 (1995)
   PUBMED   7638621
REFERENCE   8  (bases 1 to 2249)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301486
REFERENCE   9  (bases 1 to 2249)
  AUTHORS   Bird,T.D.
  TITLE     Early-Onset Familial Alzheimer Disease - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301414
REFERENCE   10  (bases 1 to 2249)
  AUTHORS   Bird,T.D.
  TITLE     Alzheimer Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301340
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.189067.1,
            SRR1803613.35480.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000366783.8/ ENSP00000355747.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA198818.1, DA915823.1,
            BT006984.1 and L43964.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000447.2.
            Summary: Alzheimer's disease (AD) patients with an inherited form
            of the disease carry mutations in the presenilin proteins (PSEN1 or
            PSEN2) or the amyloid precursor protein (APP). These disease-linked
            mutations result in increased production of the longer form of
            amyloid-beta (main component of amyloid deposits found in AD
            brains). Presenilins are postulated to regulate APP processing
            through their effects on gamma-secretase, an enzyme that cleaves
            APP. Also, it is thought that the presenilins are involved in the
            cleavage of the Notch receptor such that, they either directly
            regulate gamma-secretase activity, or themselves act are protease
            enzymes. Two alternatively spliced transcript variants encoding
            different isoforms of PSEN2 have been identified. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2249
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.13"
     gene            1..2249
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="presenilin 2"
                     /db_xref="GeneID:5664"
                     /db_xref="HGNC:HGNC:9509"
                     /db_xref="MIM:600759"
     misc_feature    297..299
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="upstream in-frame stop codon"
     CDS             384..1730
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="isoform 1 is encoded by transcript variant 1; AD5;
                     E5-1; PS-2; AD3LP; STM-2; Alzheimer disease 4; Alzheimer
                     disease 3-like"
                     /codon_start=1
                     /product="presenilin-2 isoform 1"
                     /protein_id="NP_000438.2"
                     /db_xref="CCDS:CCDS1556.1"
                     /db_xref="GeneID:5664"
                     /db_xref="HGNC:HGNC:9509"
                     /db_xref="MIM:600759"
                     /translation="MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENTA
                     QWRSQENEEDGEEDPDRYVCSGVPGRPPGLEEELTLKYGAKHVIMLFVPVTLCMIVVVA
                     TIKSVRFYTEKNGQLIYTPFTEDTPSVGQRLLNSVLNTLIMISVIVVMTIFLVVLYKYR
                     CYKFIHGWLIMSSLMLLFLFTYIYLGEVLKTYNVAMDYPTLLLTVWNFGAVGMVCIHWK
                     GPLVLQQAYLIMISALMALVFIKYLPEWSAWVILGAISVYDLVAVLCPKGPLRMLVETA
                     QERNEPIFPALIYSSAMVWTVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEPSYPEVF
                     EPPLTGYPGEELEEEEERGVKLGLGDFIFYSVLVGKAAATGSGDWNTTLACFVAILIGL
                     CLTLLLLAVFKKALPALPISITFGLIFYFSTDNLVRPFMDTLASHQLYI"
     mat_peptide     384..1274
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /product="Presenilin-2 NTF subunit. /evidence=ECO:0000250.
                     /id=PRO_0000025603"
                     /note="propagated from UniProtKB/Swiss-Prot (P49810.1)"
     misc_feature    384..593
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49810.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    447..449
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49810.1); phosphorylation site"
     misc_feature    456..458
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49810.1); phosphorylation site"
     misc_feature    471..473
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61144; propagated from
                     UniProtKB/Swiss-Prot (P49810.1); phosphorylation site"
     misc_feature    645..707
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49810.1);
                     transmembrane region"
     misc_feature    798..860
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49810.1);
                     transmembrane region"
     misc_feature    882..944
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49810.1);
                     transmembrane region"
     misc_feature    984..1046
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49810.1);
                     transmembrane region"
     misc_feature    1053..1115
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49810.1);
                     transmembrane region"
     misc_feature    1131..1193
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49810.1);
                     transmembrane region"
     mat_peptide     1275..1727
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /product="Presenilin-2 CTF subunit. /evidence=ECO:0000250.
                     /id=PRO_0000025604"
                     /note="propagated from UniProtKB/Swiss-Prot (P49810.1)"
     misc_feature    1467..1529
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49810.1);
                     transmembrane region"
     misc_feature    1548..1610
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49810.1);
                     transmembrane region"
     misc_feature    1623..1631
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49810.1);
                     Region: PAL"
     regulatory      2229..2234
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="hexamer: AATAGA"
     polyA_site      2249
                     /gene="PSEN2"
                     /gene_synonym="AD3L; AD4; CMD1V; PS2; STM2"
                     /note="major polyA site"
ORIGIN
        1 gcgtaaactc cgctggagcg cggcggcaga gcaggcattt ccagcagtga ggagacagcc
       61 agaagcaagc ttttggagct gaaggaacct gagacagaag ctagtccccc ctctgaattt
      121 tactgatgaa gaaactgagg ccacagagct aaagtgactt ttcccaaggt cgcccagcga
      181 ggacgtggga cttctcagac gtcaggagag tgatgtgagg gagctgtgtg accatagaaa
      241 gtgacgtgtt aaaaaccagc gctgccctct ttgaaagcca gggagcatca ttcatttagc
      301 ctgctgagaa gaagaaacca agtgtccggg attcagacct ctctgcggcc ccaagtgttc
      361 gtggtgcttc cagaggcagg gctatgctca cattcatggc ctctgacagc gaggaagaag
      421 tgtgtgatga gcggacgtcc ctaatgtcgg ctgagagccc cacgccgcgc tcctgccagg
      481 agggcaggca gggcccagag gatggagaga acactgccca gtggagaagc caggagaacg
      541 aggaggacgg tgaggaggac cctgaccgct atgtctgtag tggggttccc gggcggccgc
      601 caggcctgga ggaagagctg accctcaaat acggagcgaa gcacgtgatc atgctgtttg
      661 tgcctgtcac tctgtgcatg atcgtggtgg tagccaccat caagtctgtg cgcttctaca
      721 cagagaagaa tggacagctc atctacacgc cattcactga ggacacaccc tcggtgggcc
      781 agcgcctcct caactccgtg ctgaacaccc tcatcatgat cagcgtcatc gtggttatga
      841 ccatcttctt ggtggtgctc tacaagtacc gctgctacaa gttcatccat ggctggttga
      901 tcatgtcttc actgatgctg ctgttcctct tcacctatat ctaccttggg gaagtgctca
      961 agacctacaa tgtggccatg gactacccca ccctcttgct gactgtctgg aacttcgggg
     1021 cagtgggcat ggtgtgcatc cactggaagg gccctctggt gctgcagcag gcctacctca
     1081 tcatgatcag tgcgctcatg gccctagtgt tcatcaagta cctcccagag tggtccgcgt
     1141 gggtcatcct gggcgccatc tctgtgtatg atctcgtggc tgtgctgtgt cccaaagggc
     1201 ctctgagaat gctggtagaa actgcccagg agagaaatga gcccatattc cctgccctga
     1261 tatactcatc tgccatggtg tggacggttg gcatggcgaa gctggacccc tcctctcagg
     1321 gtgccctcca gctcccctac gacccggaga tggaagaaga ctcctatgac agttttgggg
     1381 agccttcata ccccgaagtc tttgagcctc ccttgactgg ctacccaggg gaggagctgg
     1441 aggaagagga ggaaaggggc gtgaagcttg gcctcgggga cttcatcttc tacagtgtgc
     1501 tggtgggcaa ggcggctgcc acgggcagcg gggactggaa taccacgctg gcctgcttcg
     1561 tggccatcct cattggcttg tgtctgaccc tcctgctgct tgctgtgttc aagaaggcgc
     1621 tgcccgccct ccccatctcc atcacgttcg ggctcatctt ttacttctcc acggacaacc
     1681 tggtgcggcc gttcatggac accctggcct cccatcagct ctacatctga gggacatggt
     1741 gtgccacagg ctgcaagctg cagggaattt tcattggatg cagttgtata gttttacact
     1801 ctagtgccat atatttttaa gacttttctt tccttaaaaa ataaagtacg tgtttacttg
     1861 gtgaggagga ggcagaacca gctctttggt gccagctgtt tcatcaccag actttggctc
     1921 ccgctttggg gagcgcctcg cttcacggac aggaagcaca gcaggtttat ccagatgaac
     1981 tgagaaggtc agattagggc ggggagaaga gcatccggca tgagggctga gatgcgcaaa
     2041 gagtgtgctc gggagtggcc cctggcacct gggtgctctg gctggagagg aaaagccagt
     2101 tccctacgag gagtgttccc aatgctttgt ccatgatgtc cttgttattt tattgccttt
     2161 agaaactgag tcctgttctt gttacggcag tcacactgct gggaagtggc ttaatagtaa
     2221 tatcaataaa tagatgagtc ctgttagaa
//
LOCUS       NM_000448               6588 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens recombination activating 1 (RAG1), transcript variant
            1, mRNA.
ACCESSION   NM_000448
VERSION     NM_000448.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6588)
  AUTHORS   Zhang J, Quintal L, Atkinson A, Williams B, Grunebaum E and Roifman
            CM.
  TITLE     Novel RAG1 mutation in a case of severe combined immunodeficiency
  JOURNAL   Pediatrics 116 (3), e445-e449 (2005)
   PUBMED   16061569
  REMARK    GeneRIF: Novel RAG1 mutation in a case of severe combined
            immunodeficiency. A novel homozygous thymine to cytosine
            substitution at nucleotide position 2686
REFERENCE   2  (bases 1 to 6588)
  AUTHORS   Noordzij JG, de Bruin-Versteeg S, Verkaik NS, Vossen JM, de Groot R,
            Bernatowska E, Langerak AW, van Gent DC and van Dongen JJ.
  TITLE     The immunophenotypic and immunogenotypic B-cell differentiation
            arrest in bone marrow of RAG-deficient SCID patients corresponds to
            residual recombination activities of mutated RAG proteins
  JOURNAL   Blood 100 (6), 2145-2152 (2002)
   PUBMED   12200379
  REMARK    GeneRIF: B-cell differentiation arrest in bone marrow of
            RAG-deficient SCID patients corresponds to residual recombination
            activities of mutated RAG1 and RAG2 proteins.
REFERENCE   3  (bases 1 to 6588)
  AUTHORS   Corneo B, Moshous D, Gungor T, Wulffraat N, Philippet P, Le Deist
            FL, Fischer A and de Villartay JP.
  TITLE     Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J
            recombinase activity can cause either T-B-severe combined immune
            deficiency or Omenn syndrome
  JOURNAL   Blood 97 (9), 2772-2776 (2001)
   PUBMED   11313270
REFERENCE   4  (bases 1 to 6588)
  AUTHORS   Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen
            TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse
            M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller
            SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger
            R, Strina D, Ugazio A, Valiaho J, Vihinen M, Vogler LB, Ochs H,
            Vezzoni P, Friedrich W and Schwarz K.
  TITLE     V(D)J recombination defects in lymphocytes due to RAG mutations:
            severe immunodeficiency with a spectrum of clinical presentations
  JOURNAL   Blood 97 (1), 81-88 (2001)
   PUBMED   11133745
REFERENCE   5  (bases 1 to 6588)
  AUTHORS   Santagata S, Gomez CA, Sobacchi C, Bozzi F, Abinun M, Pasic S,
            Cortes P, Vezzoni P and Villa A.
  TITLE     N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal
            methionine usage leads to partial V(D)J recombination activity and
            reveals a fundamental role in vivo for the N-terminal domains
  JOURNAL   Proc Natl Acad Sci U S A 97 (26), 14572-14577 (2000)
   PUBMED   11121059
REFERENCE   6  (bases 1 to 6588)
  AUTHORS   Noordzij JG, Verkaik NS, Hartwig NG, de Groot R, van Gent DC and van
            Dongen JJ.
  TITLE     N-terminal truncated human RAG1 proteins can direct T-cell receptor
            but not immunoglobulin gene rearrangements
  JOURNAL   Blood 96 (1), 203-209 (2000)
   PUBMED   10891452
REFERENCE   7  (bases 1 to 6588)
  AUTHORS   Villa A, Bozzi F, Sobacchi C, Strina D, Fasth A, Pasic S,
            Notarangelo LD and Vezzoni P.
  TITLE     Prenatal diagnosis of RAG-deficient Omenn syndrome
  JOURNAL   Prenat Diagn 20 (1), 56-59 (2000)
   PUBMED   10701853
REFERENCE   8  (bases 1 to 6588)
  AUTHORS   Wada T, Takei K, Kudo M, Shimura S, Kasahara Y, Koizumi S, Kawa-Ha
            K, Ishida Y, Imashuku S, Seki H and Yachie A.
  TITLE     Characterization of immune function and analysis of RAG gene
            mutations in Omenn syndrome and related disorders
  JOURNAL   Clin Exp Immunol 119 (1), 148-155 (2000)
   PUBMED   10606976
REFERENCE   9  (bases 1 to 6588)
  AUTHORS   Kumaki S, Ishii N, Minegishi M, Tsuchiya S, Cosman D, Sugamura K and
            Konno T.
  TITLE     Functional role of interleukin-4 (IL-4) and IL-7 in the development
            of X-linked severe combined immunodeficiency
  JOURNAL   Blood 93 (2), 607-612 (1999)
   PUBMED   9885222
REFERENCE   10  (bases 1 to 6588)
  AUTHORS   Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L,
            Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P and
            Spanopoulou E.
  TITLE     Partial V(D)J recombination activity leads to Omenn syndrome
  JOURNAL   Cell 93 (5), 885-896 (1998)
   PUBMED   9630231
REFERENCE   11  (bases 1 to 6588)
  AUTHORS   Brugnoni D, Airo P, Facchetti F, Blanzuoli L, Ugazio AG, Cattaneo R
            and Notarangelo LD.
  TITLE     In vitro cell death of activated lymphocytes in Omenn's syndrome
  JOURNAL   Eur J Immunol 27 (11), 2765-2773 (1997)
   PUBMED   9394797
REFERENCE   12  (bases 1 to 6588)
  AUTHORS   Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D,
            Friedrich W, Seger RA, Hansen-Hagge TE, Desiderio S, Lieber MR and
            Bartram CR.
  TITLE     RAG mutations in human B cell-negative SCID
  JOURNAL   Science 274 (5284), 97-99 (1996)
   PUBMED   8810255
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M29474.1, SRR14038196.2709684.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142853,
            SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000299440.6/ ENSP00000299440.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139427.3 and M29474.1.
            On Dec 24, 2019 this sequence version replaced NM_000448.2.
            Summary: The protein encoded by this gene is involved in activation
            of immunoglobulin V-D-J recombination. The encoded protein is
            involved in recognition of the DNA substrate, but stable binding
            and cleavage activity also requires RAG2. Defects in this gene can
            be the cause of several diseases. [provided by RefSeq, Jul 2008].
            Transcript Variant: Variants 1 through 5 encode the same protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6588
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p12"
     gene            1..6588
                     /gene="RAG1"
                     /gene_synonym="RAG-1; RNF74"
                     /note="recombination activating 1"
                     /db_xref="GeneID:5896"
                     /db_xref="HGNC:HGNC:9831"
                     /db_xref="MIM:179615"
     misc_feature    59..61
                     /gene="RAG1"
                     /gene_synonym="RAG-1; RNF74"
                     /note="upstream in-frame stop codon"
     CDS             131..3262
                     /gene="RAG1"
                     /gene_synonym="RAG-1; RNF74"
                     /EC_number="2.3.2.27"
                     /note="RING finger protein 74; recombination activating
                     protein 1; recombination activating gene 1"
                     /codon_start=1
                     /product="V(D)J recombination-activating protein 1"
                     /protein_id="NP_000439.2"
                     /db_xref="CCDS:CCDS7902.1"
                     /db_xref="GeneID:5896"
                     /db_xref="HGNC:HGNC:9831"
                     /db_xref="MIM:179615"
                     /translation="MAASFPPTLGLSSAPDEIQHPHIKFSEWKFKLFRVRSFEKTPEEA
                     QKEKKDSFEGKPSLEQSPAVLDKADGQKPVPTQPLLKAHPKFSKKFHDNEKARGKAIHQ
                     ANLRHLCRICGNSFRADEHNRRYPVHGPVDGKTLGLLRKKEKRATSWPDLIAKVFRIDV
                     KADVDSIHPTEFCHNCWSIMHRKFSSAPCEVYFPRNVTMEWHPHTPSCDICNTARRGLK
                     RKSLQPNLQLSKKLKTVLDQARQARQHKRRAQARISSKDVMKKIANCSKIHLSTKLLAV
                     DFPEHFVKSISCQICEHILADPVETNCKHVFCRVCILRCLKVMGSYCPSCRYPCFPTDL
                     ESPVKSFLSVLNSLMVKCPAKECNEEVSLEKYNHHISSHKESKEIFVHINKGGRPRQHL
                     LSLTRRAQKHRLRELKLQVKAFADKEEGGDVKSVCMTLFLLALRARNEHRQADELEAIM
                     QGKGSGLQPAVCLAIRVNTFLSCSQYHKMYRTVKAITGRQIFQPLHALRNAEKVLLPGY
                     HHFEWQPPLKNVSSSTDVGIIDGLSGLSSSVDDYPVDTIAKRFRYDSALVSALMDMEED
                     ILEGMRSQDLDDYLNGPFTVVVKESCDGMGDVSEKHGSGPVVPEKAVRFSFTIMKITIA
                     HSSQNVKVFEEAKPNSELCCKPLCLMLADESDHETLTAILSPLIAEREAMKSSELMLEL
                     GGILRTFKFIFRGTGYDEKLVREVEGLEASGSVYICTLCDATRLEASQNLVFHSITRSH
                     AENLERYEVWRSNPYHESVEELRDRVKGVSAKPFIETVPSIDALHCDIGNAAEFYKIFQ
                     LEIGEVYKNPNASKEERKRWQATLDKHLRKKMNLKPIMRMNGNFARKLMTKETVDAVCE
                     LIPSEERHEALRELMDLYLKMKPVWRSSCPAKECPESLCQYSFNSQRFAELLSTKFKYR
                     YEGKITNYFHKTLAHVPEIIERDGSIGAWASEGNESGNKLFRRFRKMNARQSKCYEMED
                     VLKHHWLYTSKYLQKFMNAHNALKTSGFTMNPQASLGDPLGIEDSLESQDSMEF"
     misc_feature    131..994
                     /gene="RAG1"
                     /gene_synonym="RAG-1; RNF74"
                     /note="propagated from UniProtKB/Swiss-Prot (P15918.2);
                     Region: Interaction with importin alpha-1"
     misc_feature    248..370
                     /gene="RAG1"
                     /gene_synonym="RAG-1; RNF74"
                     /note="propagated from UniProtKB/Swiss-Prot (P15918.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2816..2818
                     /gene="RAG1"
                     /gene_synonym="RAG-1; RNF74"
                     /note="Essential for DNA hairpin formation, participates in
                     base-stacking interactions near the cleavage site.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P15918.2); other site"
     regulatory      6566..6571
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAG1"
                     /gene_synonym="RAG-1; RNF74"
                     /note="hexamer: AATAAA"
     polyA_site      6588
                     /gene="RAG1"
                     /gene_synonym="RAG-1; RNF74"
                     /note="major polyA site"
ORIGIN
        1 gaaacaagag ggcaaggaga gagcagagaa cacactttgc cttctctttg gtattgagta
       61 atatcaacca aattgcagac atctcaacac tttggccagg cagcctgctg agcaaggtac
      121 ctcagccagc atggcagcct ctttcccacc caccttggga ctcagttctg ccccagatga
      181 aattcagcac ccacatatta aattttcaga atggaaattt aagctgttcc gggtgagatc
      241 ctttgaaaag acacctgaag aagctcaaaa ggaaaagaag gattcctttg aggggaaacc
      301 ctctctggag caatctccag cagtcctgga caaggctgat ggtcagaagc cagtcccaac
      361 tcagccattg ttaaaagccc accctaagtt ttcaaagaaa tttcacgaca acgagaaagc
      421 aagaggcaaa gcgatccatc aagccaacct tcgacatctc tgccgcatct gtgggaattc
      481 ttttagagct gatgagcaca acaggagata tccagtccat ggtcctgtgg atggtaaaac
      541 cctaggcctt ttacgaaaga aggaaaagag agctacttcc tggccggacc tcattgccaa
      601 ggttttccgg atcgatgtga aggcagatgt tgactcgatc caccccactg agttctgcca
      661 taactgctgg agcatcatgc acaggaagtt tagcagtgcc ccatgtgagg tttacttccc
      721 gaggaacgtg accatggagt ggcaccccca cacaccatcc tgtgacatct gcaacactgc
      781 ccgtcgggga ctcaagagga agagtcttca gccaaacttg cagctcagca aaaaactcaa
      841 aactgtgctt gaccaagcaa gacaagcccg tcagcacaag agaagagctc aggcaaggat
      901 cagcagcaag gatgtcatga agaagatcgc caactgcagt aagatacatc ttagtaccaa
      961 gctccttgca gtggacttcc cagagcactt tgtgaaatcc atctcctgcc agatctgtga
     1021 acacattctg gctgaccctg tggagaccaa ctgtaagcat gtcttttgcc gggtctgcat
     1081 tctcagatgc ctcaaagtca tgggcagcta ttgtccctct tgccgatatc catgcttccc
     1141 tactgacctg gagagtccag tgaagtcctt tctgagcgtc ttgaattccc tgatggtgaa
     1201 atgtccagca aaagagtgca atgaggaggt cagtttggaa aaatataatc accacatctc
     1261 aagtcacaag gaatcaaaag agatttttgt gcacattaat aaagggggcc ggccccgcca
     1321 acatcttctg tcgctgactc ggagagctca gaagcaccgg ctgagggagc tcaagctgca
     1381 agtcaaagcc tttgctgaca aagaagaagg tggagatgtg aagtccgtgt gcatgacctt
     1441 gttcctgctg gctctgaggg cgaggaatga gcacaggcaa gctgatgagc tggaggccat
     1501 catgcaggga aagggctctg gcctgcagcc agctgtttgc ttggccatcc gtgtcaacac
     1561 cttcctcagc tgcagtcagt accacaagat gtacaggact gtgaaagcca tcacagggag
     1621 acagattttt cagcctttgc atgcccttcg gaatgctgag aaggtacttc tgccaggcta
     1681 ccaccacttt gagtggcagc cacctctgaa gaatgtgtct tccagcactg atgttggcat
     1741 tattgatggg ctgtctggac tatcatcctc tgtggatgat tacccagtgg acaccattgc
     1801 aaagaggttc cgctatgatt cagctttggt gtctgctttg atggacatgg aagaagacat
     1861 cttggaaggc atgagatccc aagaccttga tgattacctg aatggcccct tcactgtggt
     1921 ggtgaaggag tcttgtgatg gaatgggaga cgtgagtgag aagcatggga gtgggcctgt
     1981 agttccagaa aaggcagtcc gtttttcatt cacaatcatg aaaattacta ttgcccacag
     2041 ctctcagaat gtgaaagtat ttgaagaagc caaacctaac tctgaactgt gttgcaagcc
     2101 attgtgcctt atgctggcag atgagtctga ccacgagacg ctgactgcca tcctgagtcc
     2161 tctcattgct gagagggagg ccatgaagag cagtgaatta atgcttgagc tgggaggcat
     2221 tctccggact ttcaagttca tcttcagggg caccggctat gatgaaaaac ttgtgcggga
     2281 agtggaaggc ctcgaggctt ctggctcagt ctacatttgt actctttgtg atgccacccg
     2341 tctggaagcc tctcaaaatc ttgtcttcca ctctataacc agaagccatg ctgagaacct
     2401 ggaacgttat gaggtctggc gttccaaccc ttaccatgag tctgtggaag aactgcggga
     2461 tcgggtgaaa ggggtctcag ctaaaccttt cattgagaca gtcccttcca tagatgcact
     2521 ccactgtgac attggcaatg cagctgagtt ctacaagatc ttccagctag agatagggga
     2581 agtgtataag aatcccaatg cttccaaaga ggaaaggaaa aggtggcagg ccacactgga
     2641 caagcatctc cggaagaaga tgaacctcaa accaatcatg aggatgaatg gcaactttgc
     2701 caggaagctc atgaccaaag agactgtgga tgcagtttgt gagttaattc cttccgagga
     2761 gaggcacgag gctctgaggg agctgatgga tctttacctg aagatgaaac cagtatggcg
     2821 atcatcatgc cctgctaaag agtgcccaga atccctctgc cagtacagtt tcaattcaca
     2881 gcgttttgct gagctccttt ctacgaagtt caagtatagg tatgagggaa aaatcaccaa
     2941 ttattttcac aaaaccctgg cccatgttcc tgaaattatt gagagggatg gctccattgg
     3001 ggcatgggca agtgagggaa atgagtctgg taacaaactg tttaggcgct tccggaaaat
     3061 gaatgccagg cagtccaaat gctatgagat ggaagatgtc ctgaaacacc actggttgta
     3121 cacctccaaa tacctccaga agtttatgaa tgctcataat gcattaaaaa cctctgggtt
     3181 taccatgaac cctcaggcaa gcttagggga cccattaggc atagaggact ctctggaaag
     3241 ccaagattca atggaatttt aagtagggca accacttatg agttggtttt tgcaattgag
     3301 tttccctctg ggttgcattg agggcttctc ctagcaccct ttactgctgt gtatggggct
     3361 tcaccatcca agaggtggta ggttggagta agatgctaca gatgctctca agtcaggaat
     3421 agaaactgat gagctgattg cttgaggctt ttagtgagtt ccgaaaagca acaggaaaaa
     3481 tcagttatct gaaagctcag taactcagaa caggagtaac tgcaggggac cagagatgag
     3541 caaagatctg tgtgtgttgg ggagctgtca tgtaaatcaa agccaaggtt gtcaaagaac
     3601 agccagtgag gccaggaaag aaattggtct tgtggttttc atttttttcc cccttgattg
     3661 attatatttt gtattgagat atgataagtg ccttctattt catttttgaa taattcttca
     3721 tttttataat tttacatatc ttggcttgct atataagatt caaaagagct ttttaaattt
     3781 ttctaataat atcttacatt tgtacagcat gatgaccttt acaaagtgct ctcaatgcat
     3841 ttacccattc gttatataaa tatgttacat caggacaact ttgagaaaat cagtcctttt
     3901 ttatgtttaa attatgtatc tattgtaacc ttcagagttt aggaggtcat ctgctgtcat
     3961 ggatttttca ataatgaatt tagaatacac ctgttagcta cagttagtta ttaaatcttc
     4021 tgataatata tgtttactta gctatcagaa gccaagtatg attctttatt tttacttttt
     4081 catttcaaga aatttagagt ttccaaattt agagcttctg catacagtct taaagccaca
     4141 gaggcttgta aaaatatagg ttagcttgat gtctaaaaat atatttcatg tcttactgaa
     4201 acattttgcc agactttctc caaatgaaac ctgaatcaat ttttctaaat ctaggtttca
     4261 tagagtcctc tcctctgcaa tgtgttattc tttctataat gatcagttta ctttcagtgg
     4321 attcagaatt gtgtagcagg ataaccttgt atttttccat ccgctaagtt tagatggagt
     4381 ccaaacgcag tacagcagaa gagttaacat ttacacagtg ctttttacca ctgtggaatg
     4441 ttttcacact catttttcct tacaacaatt ctgaggagta ggtgttgtta ttatctccat
     4501 ttgatggggg tttaaatgat ttgctcaaag tcatttaggg gtaataaata cttggcttgg
     4561 aaatttaaca cagtcctttt gtctccaaag cccttcttct ttccaccaca aattaatcac
     4621 tatgtttata aggtagtatc agaatttttt taggattcac aactaatcac tatagcacat
     4681 gaccttggga ttacattttt atggggcagg ggtaagcaag tttttaaatc atttgtgtgc
     4741 tctggctctt ttgatagaag aaagcaacac aaaagctcca aagggccccc taaccctctt
     4801 gtggctccag ttatttggaa actatgatct gcatccttag gaatctggga tttgccagtt
     4861 gctggcaatg tagagcaggc atggaatttt atatgctagt gagtcataat gatatgttag
     4921 tgttaattag ttttttcttc ctttgatttt attggccata attgctactc ttcatacaca
     4981 gtatatcaaa gagcttgata atttagttgt caaaagtgca tcggcgacat tatctttaat
     5041 tgtatgtatt tggtgcttct tcagggattg aactcagtat ctttcattaa aaaacacagc
     5101 agttttcctt gctttttata tgcagaatat caaagtcatt tctaatttag ttgtcaaaaa
     5161 catatacata ttttaacatt agtttttttg aaaactcttg gttttgtttt tttggaaatg
     5221 agtgggccac taagccacac tttcccttca tcctgcttaa tccttccagc atgtctctgc
     5281 actaataaac agctaaattc acataatcat cctatttact gaagcatggt catgctggtt
     5341 tatagatttt ttacccattt ctactctttt tctctattgg tggcactgta aatactttcc
     5401 agtattaaat tatccttttc taacactgta ggaactattt tgaatgcatg tgactaagag
     5461 catgatttat agcacaacct ttccaataat cccttaatca gatcacattt tgataaaccc
     5521 tgggaacatc tggctgcagg aatttcaata tgtagaaacg ctgcctatgg ttttttgccc
     5581 ttactgttga gactgcaata tcctagaccc tagttttata ctagagtttt atttttagca
     5641 atgcctattg caagtgcaat tatatactcc agggaaattc accacactga atcgagcatt
     5701 tgtgtgtgta tgtgtgaagt atatactggg acttcagaag tgcaatgtat ttttctcctg
     5761 tgaaacctga atctacaagt tttcctgcca agccactcag gtgcattgca gggaccagtg
     5821 ataatggctg atgaaaattg atgattggtc agtgaggtca aaaggagcct tgggattaat
     5881 aaacatgcac tgagaagcaa gaggaggaga aaaagatgtc tttttcttcc aggtgaactg
     5941 gaatttagtt ttgcctcaga tttttttccc acaagataca gaagaagata aagatttttt
     6001 tggttgagag tgtgggtctt gcattacatc aaacagagtt caaattccac acagataaga
     6061 ggcaggatat ataagcgcca gtggtagttg ggaggaataa accattattt ggatgcaggt
     6121 ggtttttgat tgcaaatatg tgtgtgtctt cagtgattgt atgacagatg atgtattctt
     6181 ttgatgttaa aagattttaa gtaagagtag atacattgta cccattttac attttcttat
     6241 tttaactaca gtaatctaca taaatatacc tcagaaatca tttttggtga ttattttttg
     6301 ttttgtagaa ttgcacttca gtttattttc ttacaaataa ccttacattt tgtttaatgg
     6361 cttccaagag cctttttttt ttttgtattt cagagaaaat tcaggtacca ggatgcaatg
     6421 gatttatttg attcagggga cctgtgtttc catgtcaaat gttttcaaat aaaatgaaat
     6481 atgagtttca atacttttta tattttaata tttccattca ttaatattat ggttattgtc
     6541 agcaatttta tgtttgaata tttgaaataa aagtttaaga tttgaaaa
//
LOCUS       NM_000450               3875 bp    mRNA    linear   PRI 06-MAY-2023
DEFINITION  Homo sapiens selectin E (SELE), mRNA.
ACCESSION   NM_000450
VERSION     NM_000450.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3875)
  AUTHORS   Agouti I, Masson E, Loundou A, Jean E, Arnaud L, Abdili E, Berenger
            P, Lavoipierre V, Seguier J, Dignat-George F, Lacroix R and Bernit
            E.
  TITLE     Plasma levels of E-selectin are associated with retinopathy in
            sickle cell disease
  JOURNAL   Eur J Haematol 110 (3), 271-279 (2023)
   PUBMED   36409296
  REMARK    GeneRIF: Plasma levels of E-selectin are associated with retinopathy
            in sickle cell disease.
REFERENCE   2  (bases 1 to 3875)
  AUTHORS   Mezine F, Guerin CL, Philippe A, Gendron N, Soret L, Sanchez O,
            Mirault T, Diehl JL, Chocron R, Boulanger CM and Smadja DM.
  TITLE     Increased Circulating CD62E+ Endothelial Extracellular Vesicles
            Predict Severity and in- Hospital Mortality of COVID-19 Patients
  JOURNAL   Stem Cell Rev Rep 19 (1), 114-119 (2023)
   PUBMED   35982357
  REMARK    GeneRIF: Increased Circulating CD62E[+] Endothelial Extracellular
            Vesicles Predict Severity and in- Hospital Mortality of COVID-19
            Patients.
REFERENCE   3  (bases 1 to 3875)
  AUTHORS   Zhang H, Chen Z and Wang X.
  TITLE     Differentiated serum levels of Kruppel-like factors 2 and 4,
            sP-selectin, and sE-selectin in patients with gestational diabetes
            mellitus
  JOURNAL   Gynecol Endocrinol 38 (12), 1121-1124 (2022)
   PUBMED   36655409
  REMARK    GeneRIF: Differentiated serum levels of Kruppel-like factors 2 and
            4, sP-selectin, and sE-selectin in patients with gestational
            diabetes mellitus.
REFERENCE   4  (bases 1 to 3875)
  AUTHORS   Mobasheri L, Khorashadizadeh M, Safarpour H, Mohammadi M, Anani
            Sarab G and Askari VR.
  TITLE     Anti-Inflammatory Activity of Ferula assafoetida Oleo-Gum-Resin
            (Asafoetida) against TNF-alpha-Stimulated Human Umbilical Vein
            Endothelial Cells (HUVECs)
  JOURNAL   Mediators Inflamm 2022, 5171525 (2022)
   PUBMED   36091666
  REMARK    GeneRIF: Anti-Inflammatory Activity of Ferula assafoetida
            Oleo-Gum-Resin (Asafoetida) against TNF-alpha-Stimulated Human
            Umbilical Vein Endothelial Cells (HUVECs). Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 3875)
  AUTHORS   Zhang,W.J., Cheng,J.H., Nie,Z.C., Ding,B.S., Han,Z. and Zheng,W.W.
  TITLE     Association of E-Selectin Gene +A561C Polymorphism with Type 2
            Diabetes in Chinese Population
  JOURNAL   Clin Lab 68 (8) (2022)
   PUBMED   35975500
  REMARK    GeneRIF: Association of E-Selectin Gene +A561C Polymorphism with
            Type 2 Diabetes in Chinese Population.
REFERENCE   6  (bases 1 to 3875)
  AUTHORS   Ryan US and Worthington RE.
  TITLE     Cell-cell contact mechanisms
  JOURNAL   Curr Opin Immunol 4 (1), 33-37 (1992)
   PUBMED   1375831
  REMARK    Review article
REFERENCE   7  (bases 1 to 3875)
  AUTHORS   Collins T, Williams A, Johnston GI, Kim J, Eddy R, Shows T, Gimbrone
            MA Jr and Bevilacqua MP.
  TITLE     Structure and chromosomal location of the gene for
            endothelial-leukocyte adhesion molecule 1
  JOURNAL   J Biol Chem 266 (4), 2466-2473 (1991)
   PUBMED   1703529
REFERENCE   8  (bases 1 to 3875)
  AUTHORS   Phillips ML, Nudelman E, Gaeta FC, Perez M, Singhal AK, Hakomori S
            and Paulson JC.
  TITLE     ELAM-1 mediates cell adhesion by recognition of a carbohydrate
            ligand, sialyl-Lex
  JOURNAL   Science 250 (4984), 1130-1132 (1990)
   PUBMED   1701274
REFERENCE   9  (bases 1 to 3875)
  AUTHORS   Watson ML, Kingsmore SF, Johnston GI, Siegelman MH, Le Beau MM,
            Lemons RS, Bora NS, Howard TA, Weissman IL, McEver RP et al.
  TITLE     Genomic organization of the selectin family of leukocyte adhesion
            molecules on human and mouse chromosome 1
  JOURNAL   J Exp Med 172 (1), 263-272 (1990)
   PUBMED   1694218
REFERENCE   10  (bases 1 to 3875)
  AUTHORS   Hession C, Osborn L, Goff D, Chi-Rosso G, Vassallo C, Pasek M,
            Pittack C, Tizard R, Goelz S, McCarthy K et al.
  TITLE     Endothelial leukocyte adhesion molecule 1: direct expression cloning
            and functional interactions
  JOURNAL   Proc Natl Acad Sci U S A 87 (5), 1673-1677 (1990)
   PUBMED   1689848
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC142677.1, M30640.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000333360.12/ ENSP00000331736.7
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB209354.1 and BC142711.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 13, 2008 this sequence version replaced NM_000450.1.
            Summary: The protein encoded by this gene is found in
            cytokine-stimulated endothelial cells and is thought to be
            responsible for the accumulation of blood leukocytes at sites of
            inflammation by mediating the adhesion of cells to the vascular
            lining. It exhibits structural features such as the presence of
            lectin- and EGF-like domains followed by short consensus repeat
            (SCR) domains that contain 6 conserved cysteine residues. These
            proteins are part of the selectin family of cell adhesion
            molecules. Adhesion molecules participate in the interaction
            between leukocytes and the endothelium and appear to be involved in
            the pathogenesis of atherosclerosis. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3875
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.2"
     gene            1..3875
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="selectin E"
                     /db_xref="GeneID:6401"
                     /db_xref="HGNC:HGNC:10718"
                     /db_xref="MIM:131210"
     misc_feature    44..46
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="upstream in-frame stop codon"
     CDS             158..1990
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="leukocyte endothelial cell adhesion molecule 2;
                     endothelial adhesion molecule 1; E-selectin; ELAM-1; CD62
                     antigen-like family member E; endothelial leukocyte
                     adhesion molecule 1"
                     /codon_start=1
                     /product="E-selectin precursor"
                     /protein_id="NP_000441.2"
                     /db_xref="CCDS:CCDS1283.1"
                     /db_xref="GeneID:6401"
                     /db_xref="HGNC:HGNC:10718"
                     /db_xref="MIM:131210"
                     /translation="MIASQFLSALTLVLLIKESGAWSYNTSTEAMTYDEASAYCQQRYT
                     HLVAIQNKEEIEYLNSILSYSPSYYWIGIRKVNNVWVWVGTQKPLTEEAKNWAPGEPNN
                     RQKDEDCVEIYIKREKDVGMWNDERCSKKKLALCYTAACTNTSCSGHGECVETINNYTC
                     KCDPGFSGLKCEQIVNCTALESPEHGSLVCSHPLGNFSYNSSCSISCDRGYLPSSMETM
                     QCMSSGEWSAPIPACNVVECDAVTNPANGFVECFQNPGSFPWNTTCTFDCEEGFELMGA
                     QSLQCTSSGNWDNEKPTCKAVTCRAVRQPQNGSVRCSHSPAGEFTFKSSCNFTCEEGFM
                     LQGPAQVECTTQGQWTQQIPVCEAFQCTALSNPERGYMNCLPSASGSFRYGSSCEFSCE
                     QGFVLKGSKRLQCGPTGEWDNEKPTCEAVRCDAVHQPPKGLVRCAHSPIGEFTYKSSCA
                     FSCEEGFELHGSTQLECTSQGQWTEEVPSCQVVKCSSLAVPGKINMSCSGEPVFGTVCK
                     FACPEGWTLNGSAARTCGATGHWSGLLPTCEAPTESNIPLVAGLSAAGLSLLTLAPFLL
                     WLRKCLRKAKKFVPASSCQSLESDGSYQKPSYIL"
     sig_peptide     158..220
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     221..1987
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /product="E-selectin"
     misc_feature    230..232
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:26117840,
                     ECO:0007744|PDB:4C16, ECO:0007744|PDB:4CSY; propagated from
                     UniProtKB/Swiss-Prot (P16581.1); glycosylation site"
     misc_feature    590..592
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:26117840,
                     ECO:0007744|PDB:4C16, ECO:0007744|PDB:4CSY; propagated from
                     UniProtKB/Swiss-Prot (P16581.1); glycosylation site"
     misc_feature    635..637
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:26117840,
                     ECO:0007744|PDB:4C16, ECO:0007744|PDB:4CSY; propagated from
                     UniProtKB/Swiss-Prot (P16581.1); glycosylation site"
     misc_feature    692..694
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:26117840,
                     ECO:0007744|PDB:4C16, ECO:0007744|PDB:4CSY; propagated from
                     UniProtKB/Swiss-Prot (P16581.1); glycosylation site"
     misc_feature    752..754
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:26117840,
                     ECO:0007744|PDB:4C16, ECO:0007744|PDB:4CSY; propagated from
                     UniProtKB/Swiss-Prot (P16581.1); glycosylation site"
     misc_feature    764..766
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:26117840,
                     ECO:0007744|PDB:4C16, ECO:0007744|PDB:4CSY; propagated from
                     UniProtKB/Swiss-Prot (P16581.1); glycosylation site"
     misc_feature    950..952
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:26117840,
                     ECO:0007744|PDB:4C16, ECO:0007744|PDB:4CSY; propagated from
                     UniProtKB/Swiss-Prot (P16581.1); glycosylation site"
     misc_feature    1091..1093
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16581.1); glycosylation site"
     misc_feature    1151..1153
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16581.1); glycosylation site"
     misc_feature    1664..1666
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16581.1); glycosylation site"
     misc_feature    1736..1738
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16581.1); glycosylation site"
     misc_feature    1826..1891
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="propagated from UniProtKB/Swiss-Prot (P16581.1);
                     transmembrane region"
     regulatory      3856..3861
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="hexamer: AATAAA"
     polyA_site      3875
                     /gene="SELE"
                     /gene_synonym="CD62E; ELAM; ELAM1; ESEL; LECAM2;
                     selectin-e"
                     /note="major polyA site"
ORIGIN
        1 agctgttctt ggctgacttc acatcaaaac tcctatactg acctgagaca gaggcagcag
       61 tgatacccac ctgagagatc ctgtgtttga acaactgctt cccaaaacgg aaagtatttc
      121 aagcctaaac ctttgggtga aaagaactct tgaagtcatg attgcttcac agtttctctc
      181 agctctcact ttggtgcttc tcattaaaga gagtggagcc tggtcttaca acacctccac
      241 ggaagctatg acttatgatg aggccagtgc ttattgtcag caaaggtaca cacacctggt
      301 tgcaattcaa aacaaagaag agattgagta cctaaactcc atattgagct attcaccaag
      361 ttattactgg attggaatca gaaaagtcaa caatgtgtgg gtctgggtag gaacccagaa
      421 acctctgaca gaagaagcca agaactgggc tccaggtgaa cccaacaata ggcaaaaaga
      481 tgaggactgc gtggagatct acatcaagag agaaaaagat gtgggcatgt ggaatgatga
      541 gaggtgcagc aagaagaagc ttgccctatg ctacacagct gcctgtacca atacatcctg
      601 cagtggccac ggtgaatgtg tagagaccat caataattac acttgcaagt gtgaccctgg
      661 cttcagtgga ctcaagtgtg agcaaattgt gaactgtaca gccctggaat cccctgagca
      721 tggaagcctg gtttgcagtc acccactggg aaacttcagc tacaattctt cctgctctat
      781 cagctgtgat aggggttacc tgccaagcag catggagacc atgcagtgta tgtcctctgg
      841 agaatggagt gctcctattc cagcctgcaa tgtggttgag tgtgatgctg tgacaaatcc
      901 agccaatggg ttcgtggaat gtttccaaaa ccctggaagc ttcccatgga acacaacctg
      961 tacatttgac tgtgaagaag gatttgaact aatgggagcc cagagccttc agtgtacctc
     1021 atctgggaat tgggacaacg agaagccaac gtgtaaagct gtgacatgca gggccgtccg
     1081 ccagcctcag aatggctctg tgaggtgcag ccattcccct gctggagagt tcaccttcaa
     1141 atcatcctgc aacttcacct gtgaggaagg cttcatgttg cagggaccag cccaggttga
     1201 atgcaccact caagggcagt ggacacagca aatcccagtt tgtgaagctt tccagtgcac
     1261 agccttgtcc aaccccgagc gaggctacat gaattgtctt cctagtgctt ctggcagttt
     1321 ccgttatggg tccagctgtg agttctcctg tgagcagggt tttgtgttga agggatccaa
     1381 aaggctccaa tgtggcccca caggggagtg ggacaacgag aagcccacat gtgaagctgt
     1441 gagatgcgat gctgtccacc agcccccgaa gggtttggtg aggtgtgctc attcccctat
     1501 tggagaattc acctacaagt cctcttgtgc cttcagctgt gaggagggat ttgaattaca
     1561 tggatcaact caacttgagt gcacatctca gggacaatgg acagaagagg ttccttcctg
     1621 ccaagtggta aaatgttcaa gcctggcagt tccgggaaag atcaacatga gctgcagtgg
     1681 ggagcccgtg tttggcactg tgtgcaagtt cgcctgtcct gaaggatgga cgctcaatgg
     1741 ctctgcagct cggacatgtg gagccacagg acactggtct ggcctgctac ctacctgtga
     1801 agctcccact gagtccaaca ttcccttggt agctggactt tctgctgctg gactctccct
     1861 cctgacatta gcaccatttc tcctctggct tcggaaatgc ttacggaaag caaagaaatt
     1921 tgttcctgcc agcagctgcc aaagccttga atcagatgga agctaccaaa agccttctta
     1981 catcctttaa gttcaaaaga atcagaaaca ggtgcatctg gggaactaga gggatacact
     2041 gaagttaaca gagacagata actctcctcg ggtctctggc ccttcttgcc tactatgcca
     2101 gatgccttta tggctgaaac cgcaacaccc atcaccactt caatagatca aagtccagca
     2161 ggcaaggacg gccttcaact gaaaagactc agtgttccct ttcctactct caggatcaag
     2221 aaagtgttgg ctaatgaagg gaaaggatat tttcttccaa gcaaaggtga agagaccaag
     2281 actctgaaat ctcagaattc cttttctaac tctcccttgc tcgctgtaaa atcttggcac
     2341 agaaacacaa tattttgtgg ctttctttct tttgcccttc acagtgtttc gacagctgat
     2401 tacacagttg ctgtcataag aatgaataat aattatccag agtttagagg aaaaaaatga
     2461 ctaaaaatat tataacttaa aaaaatgaca gatgttgaat gcccacaggc aaatgcatgg
     2521 agggttgtta atggtgcaaa tcctactgaa tgctctgtgc gagggttact atgcacaatt
     2581 taatcacttt catccctatg ggattcagtg cttcttaaag agttcttaag gattgtgata
     2641 tttttacttg cattgaatat attataatct tccatacttc ttcattcaat acaagtgtgg
     2701 tagggactta aaaaacttgt aaatgctgtc aactatgata tggtaaaagt tacttattct
     2761 agattacccc ctcattgttt attaacaaat tatgttacat ctgttttaaa tttatttcaa
     2821 aaagggaaac tattgtcccc tagcaaggca tgatgttaac cagaataaag ttctgagtgt
     2881 ttttactaca gttgtttttt gaaaacatgg tagaattgga gagtaaaaac tgaatggaag
     2941 gtttgtatat tgtcagatat tttttcagaa atatgtggtt tccacgatga aaaacttcca
     3001 tgaggccaaa cgttttgaac taataaaagc ataaatgcaa acacacaaag gtataatttt
     3061 atgaatgtct ttgttggaaa agaatacaga aagatggatg tgctttgcat tcctacaaag
     3121 atgtttgtca gatatgatat gtaaacataa ttcttgtata ttatggaaga ttttaaattc
     3181 acaatagaaa ctcaccatgt aaaagagtca tctggtagat ttttaacgaa tgaagatgtc
     3241 taatagttat tccctatttg ttttcttctg tatgttaggg tgctctggaa gagaggaatg
     3301 cctgtgtgag caagcattta tgtttattta taagcagatt taacaattcc aaaggaatct
     3361 ccagttttca gttgatcact ggcaatgaaa aattctcagt cagtaattgc caaagctgct
     3421 ctagccttga ggagtgtgag aatcaaaact ctcctacact tccattaact tagcatgtgt
     3481 tgaaaaaaaa gtttcagaga agttctggct gaacactggc aacaacaaag ccaacagtca
     3541 aaacagagat gtgataagga tcagaacagc agaggttctt ttaaaggggc agaaaaactc
     3601 tgggaaataa gagagaacaa ctactgtgat caggctatgt atggaataca gtgttatttt
     3661 ctttgaaatt gtttaagtgt tgtaaatatt tatgtaaact gcattagaaa ttagctgtgt
     3721 gaaataccag tgtggtttgt gtttgagttt tattgagaat tttaaattat aacttaaaat
     3781 attttataat ttttaaagta tatatttatt taagcttatg tcagacctat ttgacataac
     3841 actataaagg ttgacaataa atgtgcttat gttta
//
LOCUS       NM_000451               7934 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens SHOX homeobox (SHOX), transcript variant 1, mRNA.
ACCESSION   NM_000451
VERSION     NM_000451.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7934)
  AUTHORS   Dantas NCB, Funari MFA, Lerario AM, Andrade NLM, Rezende RC, Cellin
            LP, Alves C, Crisostomo LG, Arnhold IJP, Mendonca B, Scalco RC and
            Jorge AAL.
  TITLE     Identification of a second genetic alteration in patients with SHOX
            deficiency individuals: a potential explanation for phenotype
            variability
  JOURNAL   Eur J Endocrinol 189 (3), 387-395 (2023)
   PUBMED   37695807
  REMARK    GeneRIF: Identification of a second genetic alteration in patients
            with SHOX deficiency individuals: a potential explanation for
            phenotype variability.
REFERENCE   2  (bases 1 to 7934)
  AUTHORS   Vodopiutz J, Steurer LM, Haufler F, Laccone F, Garczarczyk-Asim D,
            Hilkenmeier M, Steinbauer P and Janecke AR.
  TITLE     Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX
            Splice-Site Variant
  JOURNAL   Genes (Basel) 14 (4), 877 (2023)
   PUBMED   37107635
  REMARK    GeneRIF: Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous
            SHOX Splice-Site Variant. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 7934)
  AUTHORS   Li L, Fu F, Li R, Jing X, Yu Q, Zhou H, Wang Y, Yang X, Pan M, Han
            J, Zhen L, Li D and Liao C.
  TITLE     Genetic Analysis and Sonography Characteristics in Fetus with SHOX
            Haploinsufficiency
  JOURNAL   Genes (Basel) 14 (1), 140 (2023)
   PUBMED   36672881
  REMARK    GeneRIF: Genetic Analysis and Sonography Characteristics in Fetus
            with SHOX Haploinsufficiency. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 7934)
  AUTHORS   Fanelli A, Vannelli S, Babu D, Mellone S, Cucci A, Monzani A, Al
            Essa W, Secco A, Follenzi A, Bellone S, Prodam F and Giordano M.
  TITLE     Copy number variations residing outside the SHOX enhancer region are
            involved in Short Stature and Leri-Weill dyschondrosteosis
  JOURNAL   Mol Genet Genomic Med 10 (1), e1793 (2022)
   PUBMED   34811950
  REMARK    GeneRIF: Copy number variations residing outside the SHOX enhancer
            region are involved in Short Stature and Leri-Weill
            dyschondrosteosis.
REFERENCE   5  (bases 1 to 7934)
  AUTHORS   Dantas NCB, Funari MFA, Vasques GA, Andrade NLM, Rezende RC, Brito
            V, Scalco RC, Arnhold IJP, Mendonca BB and Jorge AAL.
  TITLE     Adult Height of Patients with SHOX Haploinsufficiency with or
            without GH Therapy: A Real-World Single-Center Study
  JOURNAL   Horm Res Paediatr 95 (3), 264-274 (2022)
   PUBMED   35390795
  REMARK    GeneRIF: Adult Height of Patients with SHOX Haploinsufficiency with
            or without GH Therapy: A Real-World Single-Center Study.
REFERENCE   6  (bases 1 to 7934)
  AUTHORS   Ogata T, Yoshizawa A, Muroya K, Matsuo N, Fukushima Y, Rappold G and
            Yokoya S.
  TITLE     Short stature in a girl with partial monosomy of the pseudoautosomal
            region distal to DXYS15: further evidence for the assignment of the
            critical region for a pseudoautosomal growth gene(s)
  JOURNAL   J Med Genet 32 (10), 831-834 (1995)
   PUBMED   8558568
REFERENCE   7  (bases 1 to 7934)
  AUTHORS   Kuznetzova T, Baranov A, Ivaschenko T, Savitsky GA, Lanceva OE, Wang
            MR, Giollant M, Malet P, Kascheeva T, Vakharlovsky V et al.
  TITLE     X;Y translocation in a girl with short stature and some features of
            Turner's syndrome: cytogenetic and molecular studies
  JOURNAL   J Med Genet 31 (8), 649-651 (1994)
   PUBMED   7815426
REFERENCE   8  (bases 1 to 7934)
  AUTHORS   Binder,G. and Rappold,G.A.
  TITLE     SHOX Deficiency Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301394
REFERENCE   9  (bases 1 to 7934)
  AUTHORS   Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L,
            Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M et al.
  TITLE     Contiguous gene syndromes due to deletions in the distal short arm
            of the human X chromosome
  JOURNAL   Proc Natl Acad Sci U S A 86 (24), 10001-10005 (1989)
   PUBMED   2602357
REFERENCE   10  (bases 1 to 7934)
  AUTHORS   Zuffardi,O., Maraschio,P., Lo Curto,F., Muller,U., Giarola,A. and
            Perotti,L.
  TITLE     The role of Yp in sex determination: new evidence from X/Y
            translocations
  JOURNAL   Am J Med Genet 12 (2), 175-184 (1982)
   PUBMED   6954848
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.4103426.1,
            SRR14038197.1094870.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467142,
            SAMEA2467143 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000686671.1/ ENSP00000508521.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX004827.19.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 25, 2021 this sequence version replaced NM_000451.3.
            Summary: This gene belongs to the paired homeobox family and is
            located in the pseudoautosomal region 1 (PAR1) of X and Y
            chromosomes. Defects in this gene are associated with idiopathic
            growth retardation and in the short stature phenotype of Turner
            syndrome patients. This gene is highly conserved across species
            from mammals to fish to flies. Alternatively spliced transcript
            variants encoding different isoforms have been noted for this gene.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (SHOXa).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7934
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /chromosome="Y"
                     /map="Xp22.33 and Yp11.2"
     gene            1..7934
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOX1; SHOXY; SS"
                     /note="SHOX homeobox"
                     /db_xref="GeneID:6473"
                     /db_xref="HGNC:HGNC:10853"
                     /db_xref="MIM:312865"
                     /db_xref="MIM:400020"
     misc_feature    18..20
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOX1; SHOXY; SS"
                     /note="upstream in-frame stop codon"
     CDS             108..986
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOX1; SHOXY; SS"
                     /note="isoform SHOXa is encoded by transcript variant 1;
                     growth control factor, X-linked; short stature homeobox;
                     pseudoautosomal homeobox-containing osteogenic protein"
                     /codon_start=1
                     /product="short stature homeobox protein isoform SHOXa"
                     /protein_id="NP_000442.1"
                     /db_xref="CCDS:CCDS14107.1"
                     /db_xref="GeneID:6473"
                     /db_xref="HGNC:HGNC:10853"
                     /db_xref="MIM:312865"
                     /db_xref="MIM:400020"
                     /translation="MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLAR
                     SRELGTSDSSLQDITEGGGHCPVHLFKDHVDNDKEKLKEFGTARVAEGIYECKEKREDV
                     KSEDEDGQTKLKQRRSRTNFTLEQLNELERLFDETHYPDAFMREELSQRLGLSEARVQV
                     WFQNRRAKCRKQENQMHKGVILGTANHLDACRVAPYVNMGALRMPFQQVQAQLQLEGVA
                     HAHPHLHPHLAAHAPYLMFPPPPFGLPIASLAESASAAAVVAAAAKSNSKNSSIADLRL
                     KARKHAEALGL"
     misc_feature    108..209
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOX1; SHOXY; SS"
                     /note="propagated from UniProtKB/Swiss-Prot (O15266.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    405..464
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOX1; SHOXY; SS"
                     /note="propagated from UniProtKB/Swiss-Prot (O15266.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    831..854
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOX1; SHOXY; SS"
                     /note="propagated from UniProtKB/Swiss-Prot (O15266.1);
                     Region: SH3-binding. /evidence=ECO:0000255"
     misc_feature    927..968
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOX1; SHOXY; SS"
                     /note="propagated from UniProtKB/Swiss-Prot (O15266.1);
                     Region: OAR.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00138"
     regulatory      7913..7918
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOX1; SHOXY; SS"
                     /note="hexamer: AATAAA"
     polyA_site      7934
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOX1; SHOXY; SS"
                     /note="major polyA site"
ORIGIN
        1 gtaaataaca gcgctggtga tccacccgcg cgcacgggcc gtcctctccg cgcggggaga
       61 cgcgcgcatc caccagcccc ggctgctcgc cagccccggc cccagccatg gaagagctca
      121 cggcttttgt atccaagtct tttgaccaga aaagcaagga cggtaacggc ggaggcggag
      181 gcggcggagg taagaaggat tccattacgt accgggaagt tttggagagc ggactggcgc
      241 gctcccggga gctggggacg tcggattcca gcctccagga catcacggag ggcggcggcc
      301 actgcccggt gcatttgttc aaggaccacg tagacaatga caaggagaaa ctgaaagaat
      361 tcggcaccgc gagagtggca gaagggattt atgaatgcaa agagaagcgc gaggacgtga
      421 agtcggagga cgaggacggg cagaccaagc tgaaacagag gcgcagccgc accaacttca
      481 cgctggagca gctgaacgag ctcgagcgac tcttcgacga gacccattac cccgacgcct
      541 tcatgcgcga ggagctcagc cagcgcctgg ggctctccga ggcgcgcgtg caggtttggt
      601 tccagaaccg gagagccaag tgccgcaaac aagagaatca gatgcataaa ggcgtcatct
      661 tgggcacagc caaccaccta gacgcctgcc gagtggcacc ctacgtcaac atgggagcct
      721 tacggatgcc tttccaacag gtccaggctc agctgcagct ggaaggcgtg gcccacgcgc
      781 acccgcacct gcacccgcac ctggcggcgc acgcgcccta cctgatgttc cccccgccgc
      841 ccttcgggct gcccatcgcg tcgctggccg agtccgcctc ggccgccgcc gtggtcgccg
      901 ccgccgccaa aagcaacagc aagaattcca gcatcgccga cctgcggctc aaggcgcgga
      961 agcacgcgga ggccctgggg ctctgacccg ccgcgcagcc ccccgcgcgc ccggactccc
     1021 gggctccgcg caccccgcct gcaccgcgcg tcctgcactc aaccccgcct ggagctcctt
     1081 ccgcggccac cgtgctccgg gcaccccggg agctcctgca agaggcctga ggagggaggc
     1141 tcccgggacc gtccacgcac gacccagcca gaccctcgcg gagatggtgc agaaggcgga
     1201 gcgggtgagc ggccgtgcgt ccagcccggg cctctccaag gctgcccgtg cgtcctggga
     1261 ccctggagaa gggtaaaccc ccgcctggct gcgtcttcct ctgctatacc ctatgcatgc
     1321 ggttaactac acacgtttgg aagatcctta gagtctattg aaactgcaaa gatcccggag
     1381 ctggtctccg atgaaaatgc catttcttcg ttgccaacga ttttctttac taccatgctc
     1441 cttccttcat cccgagaggc tgcggaacgg gtgtggattt gaatgtggac ttcggaatcc
     1501 caggaggcag gggccgggct ctcctccacc gctcccccgg agcctcccag gcagcaataa
     1561 ggaaatagtt ctctggctga ggctgaggac gtgaaccgcg ggctttggaa agggagggga
     1621 gggagacccg aacctcccac gttgggactc ccacgttccg gggacctgaa tgaggaccga
     1681 ctttataact tttccagtgt ttgattccca aattgggtct ggttttgttt tggattggta
     1741 tttttttttt tttttttttt tttttttttt tttgctgtgt tacaggattc agacgcaaaa
     1801 gacttgcata agagacggac gcgtggttgc aaggtgtcat actgatatgc agcattaact
     1861 ttactgacat ggagtgaagt gcaatattat aaatattata gattaaaaaa aaaatagccg
     1921 tgcactcttg accccgtcag cgtccaacgt ggaaaaggcg ttacctcttc tcccagcgct
     1981 ggccgcctgg ccactgaggg ccctttgcaa aaatcacggg tgtagagatg gccctgggcg
     2041 cgctgggagt gtggttgtgt ttctgaaggg gataaaagag ggcacggtgg tgccaagata
     2101 tcagtttggt acctgagctg tttctggttg ggaagcgtaa aagccaggga gagatccaga
     2161 gagttttcaa gtttttgcag atgtaggtgg ttccagcttt tctttctccc ctactccatc
     2221 ttctgcgttc ccccagttct tttatttctt tgttttttat ttttgagaca gagacttgct
     2281 ttgtcgccca ggctggagtg cagtggcgca atgtcagctc actgccacct ccgcctcccg
     2341 ggttcaagcg atgctcctgc ctcagcctcc cgagtagctg ggactacagg cacctgccac
     2401 cacccccggc taattttttg tatttatagt agagacgggg tttcaccgtg ttggccaggc
     2461 tcgtctcgaa ctcctgacct caggtgatct gcccgcctcg gcctcccaac gtgcccccag
     2521 ttttataaac agcagatagc aacttgtcgt cacagctggc atgggctgga cagttgcttg
     2581 aaatgaccta accaaaaaca ttcaagggtt ctgcccccag atttcgggag atccacgttc
     2641 catgttctga ttggttttct gggaacacag caaggggttt ggtgacctcc gagaagatcc
     2701 atctgcatga ttggcattag ttaccacagc ctgcccagag agaaactatc ttctcccaac
     2761 atttactaac atccactggt caactctctt atttccataa cacatttgca tctttctgga
     2821 ttcaagcttg gtggttttct ttcctaactt ctgatttaga tacttctccc tgaggtgggg
     2881 ataaaagaaa aaaaaaaaca acttcttttt ttcttccgca taacactttc tatcttgtca
     2941 ctgagctgaa ctgtagatcc atttggaccc gtctcatttg tatcttctga tattctttat
     3001 acaaaccaaa agtccccttc aacatttttt atgtcaaaat gttacaaccg ctgtaaaatg
     3061 acggagagag agagaaagaa tcccagacat taacggtatt agagagtttg cctcattcat
     3121 ccatttttct taaaagctgg aaattaaaaa aaaaaaagag agagagaggc tttaatagtt
     3181 aagctgaaat ttttatcgaa aagaagaatt gcattttgaa tctttgggaa gtaggttcat
     3241 tcatcagagt atgtaaccct ttggaaaagt ggttggtaag atatgtacag ccctagattt
     3301 ttttttttta accaaaaagg ctgagtaatt ttgaaaaatc gaaacataac agtgtgtcat
     3361 catttcctcc caagaaaaag ctcactccac gtgagtagaa agacatctac ctggtccctg
     3421 tagaatctga acgtttctct ttagagacgg aatttcaatc ttgtccccca ggctggagtg
     3481 cagtggcaca atctcggctc accgcaacct ccgcctcccg ggttcaagcc attctcctgc
     3541 ctcagcctcc cgagtagctg ggattacagg cacctgccac caggcctggg taactttctg
     3601 gtatttttag tagagacagg gtttcagcct cccgagtagc tgggattaca ggcacctgcc
     3661 accaggcctg ggtaactttc tggtattttt agtagagaca gggtttcagc ctcccgagta
     3721 gctgggatta caggcacctg ccaccaggcc tgggtaactt tctggtattt ttagtagaga
     3781 cagggtttca gcctcccgag tagctgggat tacaggcacc tgccaccagg cctgggtaac
     3841 tttctggtat ttttagtaga gacagggttt cggcctcccg agtagctggg attacaggca
     3901 cctgccacca ggcctgggta actttctggt atttttagta gagacagggt ttcggcctcc
     3961 cgagtagctg ggattacagg cacctgccac caggcctggg taactttctg gtatttttag
     4021 tagagacagg gtttcagcct cccgagtagc tgggattaca ggcacctgcc accaggcctg
     4081 ggtaactttc tggtattttt agtagagaca gggtttcggc ctcccgagta gctgggatta
     4141 caggcacctg ccaccaggcc tgggtaactt tctggtattt ttagtacaga cagggtttca
     4201 gcctcccgag tagctgggat tacaggcacc tgccaccagg cctgggtaac tttctggtat
     4261 ttttagtaga gacagggttt cggcctcccg agtagctggg attacaggca cctgccacca
     4321 ggcctgggta actttctggt atttttagta gagacagggt ttcggcctcc cgagtagctg
     4381 ggattacagg cacctgccac caggcctggg taactttctg gtatttttag tagagacagg
     4441 gtttcggcct cctgagtagc tgggattaca ggcacctgcc accaggcctg ggtaactttc
     4501 tggtattttt agtagagaca gggtttcagc ctcccgagta gctgggatta caggcacctg
     4561 ccaccaggcc tgggtaactt tctggtattt ttagtacaga cagggtttcg gcctcctgag
     4621 tagctgggat tacaggcacc tgccaccagg cctgggtaac tttctggtag ttttagtaga
     4681 gacagggttt cagcctcccg agtagctggg attacaggca cctgccacca ggcctgggta
     4741 atttttttgc atttttggta gagacaggtt tttgctgtgt tggcccggct ggtctcaaac
     4801 tcctgacctc aggttgacct gcccgctttg tccctcgcaa agtgctggga ttacaggcgt
     4861 gagccaccgc acctggcctg aatctgaact tttaaaaggg agttactgac tctcaactgt
     4921 gcggggacgg tttcagtttg atttaatatg gaaagagggc caagtgtcat cctcacaaat
     4981 gggtccccga agcagatcaa acgcagagaa ctgtgagggt gggacacgag tgtctgtgga
     5041 cactggctgc ctttggcttt tctcctgcga gagaagttgg gtgactttct gtaggtggat
     5101 gagtgatccc tgaatgagtg tggggtacgt gtatgctagc tgcttctttc tccctgaaac
     5161 tctcggatgg aaggaagtaa gaaattcagc ttgggctgtg accagttctc accaccaacg
     5221 ccctcttctc tctcccttct ccttccttcc ttccttcctt tctttctttt tctttctttc
     5281 tctctttctt tcttttcttt ctttctgttt ctttcctttt tatctttctc tctttttctt
     5341 tctcttttcc ttttttgttt ctttctttct ttttctttct ttctttttct ttcttctttc
     5401 tttcttcgat gaagtctcac tctgtcaccc aggctggagt gcagtggtgc aatcccagct
     5461 cactgcatcc tctacctcct ggcttcaaga aattctcctg cctcagcctc ccaagtagct
     5521 gggatgacag gcacccacca ccattcccgg ataatttttg tattttttag tagagaccgg
     5581 gtttcgccat gttggccagg ctggtcttga actcctgacc tcacatgatc cacccgcctc
     5641 agcctcccag agtgctggga ttacggggtg aggcaccgcg cccggcctcc tctctctttt
     5701 tctgagatgt ttaggaagga ctgggctgat ggggaccctc tgtatgtgat gtgcgtgggt
     5761 ttggtttccc ggaaggccct ccagagacac gtttgcgtga acattcagca tggaaacaac
     5821 atacgtctct ccacaggagg tgagaaattg aatttatggg gtgggtgtac gctggcgatt
     5881 cttggtgctt tttgctcaaa acaaggttct tttgaaagtc acgttcctgc tttccctgtg
     5941 gcttcccggt gagctcgctc gcagagcaag gaataccacc cagagagcaa cgtgggctgt
     6001 gttccgatgt aacgccgttg cagagagagg atttggtgtg tgagatccgt accagctcca
     6061 gcacactgat aggaacacgt tgctggccga actgaacgat gctgggttgg gtcctgattg
     6121 atacgtattt tcttccctcc tctccccaaa acttggccaa atagtccgtg gagggttgtc
     6181 agtcgccgca gttgagcaaa aaacacttct tcctttgagt ggctgttctg gtgaaatctg
     6241 tttctgacat atccactttt ctctctcttt tctctctctc tgactgcgaa gcacccacag
     6301 ggagaaggaa ttggatgtat cggatgttgc tattagattt tctttctccg ttcgagtctc
     6361 tgactggtgc atactttgca aaggtgtgtt cctggcaatt gccaagagtt agaaaaatgc
     6421 accttctctg gtggccgttg gggtgttgtt tcacaggcag tggtgacagg gccccttggc
     6481 tgtggctgtc ttctccagcg ccgtggataa agagatggga cagattctgt gcctctgtac
     6541 gatttagagc gtaactgacc gcgtccaaca cccgtttttc cacttacaaa gctggtggtg
     6601 cgacgggctt ggtgtctccc gtacgggaag gaggcctttg ggccgctcca aagacgccct
     6661 gtcgtaggaa tggcctctcc atcccgccaa agtccagcca ggcccccgaa atggtcccat
     6721 ttccttggaa gcctgagttt ctgttctggt cttgctgctg tccttggcca cgtcagcacg
     6781 tgggagcatc tgtggatacc gcagagtctg gggacagctg ggcgtttaac cgaaatgaag
     6841 ccgagacggg tttcaggttt tggtgccaag ctctggtcag gatgaaaggg aaataccaga
     6901 gtcctctgtc ctcgcctctg ggtttcatgc tgacctttct aacatttgtt ttcccctaag
     6961 aacaagcaga agcctccagc tccctttagc tccacagttt tcccggggac atagcgagga
     7021 tggcacacgg cagccactcc cacgacacac atttcggagg cactttgctg gaagccgctt
     7081 gtctcctcca gctttgggag gtctggggag gagagaggct ttcggtggac acgtttgaca
     7141 ttaaaaaaaa aaaaaaaaaa aaaaaaaaac tggtgcctaa tttattaaag agaattagct
     7201 tagcgagtat atgctgatat tcttcgacac acgtgggtaa gttgatgcca tttataaatg
     7261 ttttattgaa atttgatatt taatgagaag ccggttaagg aatgtagaca atatcccgtt
     7321 tcaaagctat gaaatgtgct atttattgaa aggggatgtg gcttcacgag ttcagcccat
     7381 tgtacgtgca ggtcccgtgg gaaggaggca aaagcccctg cttcttactt tgtgatgtat
     7441 gtgcatttgt tatttatttt tttttccttg gtcggacgtt cataaatatg tactatttta
     7501 attatgtcga gtgtaaattt gacatcgcgt tgcatttatt tttatatttc tgaaaactgt
     7561 tgctttttct ttttccctcc cccattgacg acatagcggc ccccgcgtcc gggttacaaa
     7621 tacatctaca gatattttca gggattgctt cagatgaaaa caaatcacac accgtttccc
     7681 aaaccaacag tcttcacatt tctatccctc tgttattgtc ggcaggcggt gaggggtaga
     7741 aaaaaaacaa acaaacaaac agaaaaaaaa accaaaaaaa accaccctga gtttctctgg
     7801 tgacgccctc attctcctaa cgttcaataa tctcaatgtt gagttgcagc aacagactgt
     7861 atttttgtga cgccccgtag tatgaatgta catcttgtaa aactgagata taaataaact
     7921 tataaatatt tgta
//
LOCUS       NM_000452               3350 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens solute carrier family 10 member 2 (SLC10A2), mRNA.
ACCESSION   NM_000452
VERSION     NM_000452.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3350)
  AUTHORS   Meadows V, Marakovits C, Ekser B, Kundu D, Zhou T, Kyritsi K, Pham
            L, Chen L, Kennedy L, Ceci L, Wu N, Carpino G, Zhang W, Isidan A,
            Meyer A, Owen T, Gaudio E, Onori P, Alpini G and Francis H.
  TITLE     Loss of apical sodium bile acid transporter alters bile acid
            circulation and reduces biliary damage in cholangitis
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 324 (1), G60-G77 (2023)
   PUBMED   36410025
  REMARK    GeneRIF: Loss of apical sodium bile acid transporter alters bile
            acid circulation and reduces biliary damage in cholangitis.
REFERENCE   2  (bases 1 to 3350)
  AUTHORS   Ontsouka E, Epstein A, Kallol S, Zaugg J, Baumann M, Schneider H and
            Albrecht C.
  TITLE     Placental Expression of Bile Acid Transporters in Intrahepatic
            Cholestasis of Pregnancy
  JOURNAL   Int J Mol Sci 22 (19), 10434 (2021)
   PUBMED   34638773
  REMARK    GeneRIF: Placental Expression of Bile Acid Transporters in
            Intrahepatic Cholestasis of Pregnancy. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 3350)
  AUTHORS   Zhu Q, Komori H, Imamura R and Tamai I.
  TITLE     A Novel Fluorescence-Based Method to Evaluate Ileal Apical
            Sodium-Dependent Bile Acid Transporter ASBT
  JOURNAL   J Pharm Sci 110 (3), 1392-1400 (2021)
   PUBMED   33278408
  REMARK    GeneRIF: A Novel Fluorescence-Based Method to Evaluate Ileal Apical
            Sodium-Dependent Bile Acid Transporter ASBT.
REFERENCE   4  (bases 1 to 3350)
  AUTHORS   Ayewoh EN, Czuba LC, Nguyen TT and Swaan PW.
  TITLE     S-acylation status of bile acid transporter hASBT regulates its
            function, metabolic stability, membrane expression, and
            phosphorylation state
  JOURNAL   Biochim Biophys Acta Biomembr 1863 (2), 183510 (2021)
   PUBMED   33189717
  REMARK    GeneRIF: S-acylation status of bile acid transporter hASBT regulates
            its function, metabolic stability, membrane expression, and
            phosphorylation state.
REFERENCE   5  (bases 1 to 3350)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 3350)
  AUTHORS   Shneider BL.
  TITLE     Intestinal bile acid transport: biology, physiology, and
            pathophysiology
  JOURNAL   J Pediatr Gastroenterol Nutr 32 (4), 407-417 (2001)
   PUBMED   11396803
  REMARK    Review article
REFERENCE   7  (bases 1 to 3350)
  AUTHORS   Craddock AL, Love MW, Daniel RW, Kirby LC, Walters HC, Wong MH and
            Dawson PA.
  TITLE     Expression and transport properties of the human ileal and renal
            sodium-dependent bile acid transporter
  JOURNAL   Am J Physiol 274 (1), G157-G169 (1998)
   PUBMED   9458785
REFERENCE   8  (bases 1 to 3350)
  AUTHORS   Oelkers P, Kirby LC, Heubi JE and Dawson PA.
  TITLE     Primary bile acid malabsorption caused by mutations in the ileal
            sodium-dependent bile acid transporter gene (SLC10A2)
  JOURNAL   J Clin Invest 99 (8), 1880-1887 (1997)
   PUBMED   9109432
REFERENCE   9  (bases 1 to 3350)
  AUTHORS   Wong MH, Rao PN, Pettenati MJ and Dawson PA.
  TITLE     Localization of the ileal sodium-bile acid cotransporter gene
            (SLC10A2) to human chromosome 13q33
  JOURNAL   Genomics 33 (3), 538-540 (1996)
   PUBMED   8661017
REFERENCE   10  (bases 1 to 3350)
  AUTHORS   Wong MH, Oelkers P and Dawson PA.
  TITLE     Identification of a mutation in the ileal sodium-dependent bile acid
            transporter gene that abolishes transport activity
  JOURNAL   J Biol Chem 270 (45), 27228-27234 (1995)
   PUBMED   7592981
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U10417.1, BC130523.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03267780
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000245312.5/ ENSP00000245312.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161771.17.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000452.2.
            Summary: This gene encodes a sodium/bile acid cotransporter. This
            transporter is the primary mechanism for uptake of intestinal bile
            acids by apical cells in the distal ileum. Bile acids are the
            catabolic product of cholesterol metabolism, so this protein is
            also critical for cholesterol homeostasis. Mutations in this gene
            cause primary bile acid malabsorption (PBAM); muatations in this
            gene may also be associated with other diseases of the liver and
            intestines, such as familial hypertriglyceridemia (FHTG). [provided
            by RefSeq, Mar 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..3350
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q33.1"
     gene            1..3350
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="solute carrier family 10 member 2"
                     /db_xref="GeneID:6555"
                     /db_xref="HGNC:HGNC:10906"
                     /db_xref="MIM:601295"
     misc_feature    91..93
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="upstream in-frame stop codon"
     CDS             169..1215
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="ileal apical sodium-dependent bile acid transporter;
                     ileal sodium-dependent bile acid transporter;
                     Na(+)-dependent ileal bile acid transporter;
                     sodium/taurocholate cotransporting polypeptide, ileal;
                     solute carrier family 10 (sodium/bile acid cotransporter
                     family), member 2; solute carrier family 10 (sodium/bile
                     acid cotransporter), member 2; Na+/taurocholate
                     cotransporting polypeptide 2"
                     /codon_start=1
                     /product="ileal sodium/bile acid cotransporter"
                     /protein_id="NP_000443.2"
                     /db_xref="CCDS:CCDS9506.1"
                     /db_xref="GeneID:6555"
                     /db_xref="HGNC:HGNC:10906"
                     /db_xref="MIM:601295"
                     /translation="MNDPNSCVDNATVCSGASCVVPESNFNNILSVVLSTVLTILLALV
                     MFSMGCNVEIKKFLGHIKRPWGICVGFLCQFGIMPLTGFILSVAFDILPLQAVVVLIIG
                     CCPGGTASNILAYWVDGDMDLSVSMTTCSTLLALGMMPLCLLIYTKMWVDSGSIVIPYD
                     NIGTSLVSLVVPVSIGMFVNHKWPQKAKIILKIGSIAGAILIVLIAVVGGILYQSAWII
                     APKLWIIGTIFPVAGYSLGFLLARIAGLPWYRCRTVAFETGMQNTQLCSTIVQLSFTPE
                     ELNVVFTFPLIYSIFQLAFAAIFLGFYVAYKKCHGKNKAEIPESKENGTEPESSFYKAN
                     GGFQPDEK"
     misc_feature    196..198
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15350125; propagated from
                     UniProtKB/Swiss-Prot (Q12908.2); glycosylation site"
     misc_feature    253..315
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12908.2);
                     transmembrane region"
     misc_feature    415..477
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12908.2);
                     transmembrane region"
     misc_feature    547..609
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12908.2);
                     transmembrane region"
     misc_feature    640..702
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12908.2);
                     transmembrane region"
     misc_feature    754..816
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12908.2);
                     transmembrane region"
     misc_feature    841..903
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12908.2);
                     transmembrane region"
     misc_feature    1021..1083
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12908.2);
                     transmembrane region"
     misc_feature    1126..1212
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12908.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1150..1152
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="Not glycosylated; propagated from
                     UniProtKB/Swiss-Prot (Q12908.2); other site"
     misc_feature    1171..1173
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70172; propagated from
                     UniProtKB/Swiss-Prot (Q12908.2); phosphorylation site"
     misc_feature    971
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="Clone_left_end: RP11-104J12"
     regulatory      3331..3336
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="hexamer: AATGAA"
     polyA_site      3350
                     /gene="SLC10A2"
                     /gene_synonym="ASBT; IBAT; ISBT; NTCP2; PBAM; PBAM1"
                     /note="major polyA site"
ORIGIN
        1 acttccctaa ggtggctttc aaaagagaca ccaagtgaca tatttttagg aggggtttaa
       61 aagtttgatg gggtagaagt aaacgttgct taactcaacc agcagcagag ccagggccca
      121 gggaccagcg cttctgtgga cttggccttt ccagcagcag acccagcaat gaatgatccg
      181 aacagctgtg tggacaatgc aacagtttgc tctggtgcat cctgtgtggt acctgagagc
      241 aatttcaata acatcctaag tgtggtccta agtacggtgc tgaccatcct gttggccttg
      301 gtgatgttct ccatgggatg caacgtggaa atcaagaaat ttctagggca cataaagcgg
      361 ccgtggggca tttgtgttgg cttcctctgt cagtttggaa tcatgcccct cacaggattc
      421 atcctgtcgg tggcctttga catcctcccg ctccaggccg tagtggtgct cattatagga
      481 tgctgccctg gaggaactgc ctccaatatc ttggcctatt gggtcgatgg cgacatggac
      541 ctgagcgtca gcatgaccac atgctccaca ctgcttgccc tcggaatgat gccgctgtgc
      601 ctccttatct ataccaaaat gtgggtcgac tctgggagca tcgtaattcc ctatgataac
      661 ataggtacat ctctggtttc tctcgttgtt cctgtttcca ttggaatgtt tgttaatcac
      721 aaatggcccc aaaaagcaaa gatcatactt aaaattgggt ccatcgcggg cgccatcctc
      781 attgtgctca tagctgtggt tggaggaata ttgtaccaaa gcgcctggat cattgctccc
      841 aaactgtgga ttataggaac aatatttcct gtggcgggtt actccctggg gtttcttctg
      901 gctagaattg ctggtctacc ctggtacagg tgccgaacgg ttgcttttga aacggggatg
      961 cagaacacgc agctatgttc caccatcgtt cagctctcct tcactcctga ggagctcaat
     1021 gtcgtattca ccttcccgct catctacagc attttccagc tcgcctttgc cgcaatattc
     1081 ttaggatttt atgtggcata caagaaatgt catggaaaaa acaaggcaga aattccagag
     1141 agcaaagaaa atggaacgga gccagagtca tcgttttata aggcaaatgg aggatttcaa
     1201 cctgacgaaa agtagacatc aagtggacaa aacagacgag ttccaaatta cgttcttaaa
     1261 ccgtaactat atttaattat ttgttttggt aggacagttg gcagaaaaga gttaaagtga
     1321 aaattggaat ttcattggaa ttcatgtatt ggtttcagta ccaagtgact ggtggcccaa
     1381 ttctttaatg ggacaaatat tgtttcctat atatatgtat atgttttata tatgtatgta
     1441 tactcatata gatatattgt cattgaaata ttcccccaaa atattctcag actaaacctg
     1501 acatagggaa caccgagaat gaaaacatct ttaacaccaa aactgaattc ttatgcagaa
     1561 tttcctagcc catagatgac aacctgactt tctgtatgtt aaagtagatg taatgaatta
     1621 ttattattac agtggtcacg attttcttca gtgtttatga ttataaaaat tgacatgaac
     1681 atctttcact gacattttaa tcattatttt aaaagctttg caacctatat atttatataa
     1741 ctttgtaata taacatgggc aaatatctga cttctgtatt tttaaaaagt tgccttctcc
     1801 agtggcagtc caaaagcaga aatgagagga aattattaca aaatagaatt caataaccat
     1861 attggatgca ggctcttaac tcagcaggga tatcgtacat ctattgctct acctcagggg
     1921 tccagtgata cccactagat cttccaagga aaaacataat tctttcaaac ggtgtgtatt
     1981 tggcaaagag ctcttcaaat ctgggagagg gacttcctca aggttttcct gtgtgcagtg
     2041 gatccacata gctaatatga cagctagtca gttgacaggg accacccaca gtaagcacca
     2101 tggtcaggga ggtggcagga ggtgcaaaga cagaagtatt gagagaaaca ccaagactct
     2161 agtggaggaa ttaattcaat gggagatagt ataaaataca tagaaaacac aagtaacaga
     2221 aacctggttg aaatgcttaa ctagagtcaa ttagatgtgc aggagtaagt agtataagaa
     2281 gaatcaagtc cgagagtgat caggaaatga gtattaaaca gtatttgaaa cagagaacgt
     2341 gtcccagggc ccaaaagtca gaagggcccc accagccagg aaagttgttt caatgctgta
     2401 agtaggtgta gccaagggaa gccaggacta tctgatatac ggtagcaggg gtttacggct
     2461 gccaggggaa aataactcat caagtgttgg actttcaatt ataagatcga atttaatttc
     2521 ctttccctca ttctgcagca atcagaatac acaatcttaa ccactcggtc cttagtggtt
     2581 ttgttccatt ttgcattggg tattttcact gcctcataga gtctatttca agtgttttgg
     2641 ctgaaagggc tttttgcatt tgcatgttct gagttcagat tctgctggtg cacccaagca
     2701 ttatgggaac aggaactcaa cttagctctt ccagtagagg ggtgagggat tctgcttttc
     2761 aaattcataa cattgatctt tttatgcaag atttccattt acagttgaat aagtacttca
     2821 tatttttcca tcattagaca aatacaaaat ggactaaata attttaagag atagtggagg
     2881 agagggggta cagacttcct tcttagagag tgtcagagaa tatgctccca atggtggaaa
     2941 ggaagattta cagtctagcg gctaagtacc tcctacacat ttcccatcaa tcagaaaata
     3001 gacaggtaca ctaaagggac cctgagaact cctcttgtaa tttcaacaca cccaaaatca
     3061 agggcctgga tgccagcagc tgcagcaagc aggtttttcc tccctgttga gcaagacagg
     3121 tgagcaagat aggacttggc tttcttacat gatgcggtaa cttgtgactt gagtcttttt
     3181 ccctaatttg ctagtgggaa gaaaaatagc tgagctttct aaaatgatag ctctctattt
     3241 ttaaatgaat ttgaaaagtc gattaaatta tgtattttat tgcctctgag tatcatatta
     3301 aatgaatatt ttattttaaa ggcttaaata aatgaaaatg atttttgtaa
//
LOCUS       NM_000453               3604 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens solute carrier family 5 member 5 (SLC5A5), mRNA.
ACCESSION   NM_000453
VERSION     NM_000453.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3604)
  AUTHORS   Mutevelizade G, Kocer NE and Reyhan M.
  TITLE     The effect of sodium iodide symporter protein on ablation success in
            patients with differentiated thyroid cancer
  JOURNAL   Ann Nucl Med 36 (12), 1050-1058 (2022)
   PUBMED   36214955
  REMARK    GeneRIF: The effect of sodium iodide symporter protein on ablation
            success in patients with differentiated thyroid cancer.
REFERENCE   2  (bases 1 to 3604)
  AUTHORS   Hoang T, Lee EK, Lee J, Hwangbo Y and Kim J.
  TITLE     Seaweed and Iodine Intakes and SLC5A5 rs77277498 in Relation to
            Thyroid Cancer
  JOURNAL   Endocrinol Metab (Seoul) 37 (3), 513-523 (2022)
   PUBMED   35607818
  REMARK    GeneRIF: Seaweed and Iodine Intakes and SLC5A5 rs77277498 in
            Relation to Thyroid Cancer.
REFERENCE   3  (bases 1 to 3604)
  AUTHORS   Geysels RC, Bernal Barquero CE, Martin M, Peyret V, Nocent M,
            Sobrero G, Munoz L, Signorino M, Testa G, Castro RB, Masini-Repiso
            AM, Miras MB and Nicola JP.
  TITLE     Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to
            Dyshormonogenic Congenital Hypothyroidism
  JOURNAL   Front Endocrinol (Lausanne) 13, 868891 (2022)
   PUBMED   35600585
  REMARK    GeneRIF: Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant
            Leading to Dyshormonogenic Congenital Hypothyroidism. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 3604)
  AUTHORS   Durgia H, Nicholas AK, Schoenmakers E, Dickens JA, Halanaik D, Sahoo
            J, Kamalanathan S and Schoenmakers N.
  TITLE     Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F,
            Causing Congenital Hypothyroidism
  JOURNAL   Thyroid 32 (2), 215-218 (2022)
   PUBMED   34806438
  REMARK    GeneRIF: Brief Report: A Novel Sodium/Iodide Symporter Mutation,
            S356F, Causing Congenital Hypothyroidism.
REFERENCE   5  (bases 1 to 3604)
  AUTHORS   Yan Z, Yangyanqiu W, Shuwen H, Jing M, Haihong L, Gong C, Yin J,
            Qing Z and Weili G.
  TITLE     Downregulation of Rap1GAP Expression Activates the TGF-beta/Smad3
            Pathway to Inhibit the Expression of Sodium/Iodine Transporter in
            Papillary Thyroid Carcinoma Cells
  JOURNAL   Biomed Res Int 2021, 6840642 (2021)
   PUBMED   34840979
  REMARK    GeneRIF: Downregulation of Rap1GAP Expression Activates the
            TGF-beta/Smad3 Pathway to Inhibit the Expression of Sodium/Iodine
            Transporter in Papillary Thyroid Carcinoma Cells. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 3604)
  AUTHORS   Smanik PA, Liu Q, Furminger TL, Ryu K, Xing S, Mazzaferri EL and
            Jhiang SM.
  TITLE     Cloning of the human sodium lodide symporter
  JOURNAL   Biochem Biophys Res Commun 226 (2), 339-345 (1996)
   PUBMED   8806637
REFERENCE   7  (bases 1 to 3604)
  AUTHORS   Fukushima K, Kaneko CR and Fuchs AF.
  TITLE     The neuronal substrate of integration in the oculomotor system
  JOURNAL   Prog Neurobiol 39 (6), 609-639 (1992)
   PUBMED   1410443
  REMARK    Review article
REFERENCE   8  (bases 1 to 3604)
  AUTHORS   Libert F, Passage E, Lefort A, Vassart G and Mattei MG.
  TITLE     Localization of human thyrotropin receptor gene to chromosome region
            14q3 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 54 (1-2), 82-83 (1990)
   PUBMED   2249482
REFERENCE   9  (bases 1 to 3604)
  AUTHORS   Albero R, Cerdan A and Sanchez Franco F.
  TITLE     Congenital hypothyroidism from complete iodide transport defect:
            long-term evolution with iodide treatment
  JOURNAL   Postgrad Med J 63 (746), 1043-1047 (1987)
   PUBMED   3451231
REFERENCE   10  (bases 1 to 3604)
  AUTHORS   Couch,R.M., Dean,H.J. and Winter,J.S.
  TITLE     Congenital hypothyroidism caused by defective iodide transport
  JOURNAL   J Pediatr 106 (6), 950-953 (1985)
   PUBMED   3998954
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U66088.1, D87920.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000222248.4/ ENSP00000222248.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005796.1, U66088.1 and
            AF260700.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000453.2.
            Summary: This gene encodes a member of the sodium glucose
            cotransporter family. The encoded protein is responsible for the
            uptake of iodine in tissues such as the thyroid and lactating
            breast tissue. The iodine taken up by the thyroid is incorporated
            into the metabolic regulators triiodothyronine (T3) and
            tetraiodothyronine (T4). Mutations in this gene are associated with
            thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3604
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..3604
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="solute carrier family 5 member 5"
                     /db_xref="GeneID:6528"
                     /db_xref="HGNC:HGNC:11040"
                     /db_xref="MIM:601843"
     misc_feature    202..204
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="upstream in-frame stop codon"
     CDS             376..2307
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="Na(+)/I(-) cotransporter; Na(+)/I(-) symporter;
                     solute carrier family 5 (sodium iodide symporter), member
                     5; solute carrier family 5 (sodium/iodide cotransporter),
                     member 5; natrium iodide transporter"
                     /codon_start=1
                     /product="sodium/iodide cotransporter"
                     /protein_id="NP_000444.1"
                     /db_xref="CCDS:CCDS12368.1"
                     /db_xref="GeneID:6528"
                     /db_xref="HGNC:HGNC:11040"
                     /db_xref="MIM:601843"
                     /translation="MEAVETGERPTFGAWDYGVFALMLLVSTGIGLWVGLARGGQRSAE
                     DFFTGGRRLAALPVGLSLSASFMSAVQVLGVPSEAYRYGLKFLWMCLGQLLNSVLTALL
                     FMPVFYRLGLTSTYEYLEMRFSRAVRLCGTLQYIVATMLYTGIVIYAPALILNQVTGLD
                     IWASLLSTGIICTFYTAVGGMKAVVWTDVFQVVVMLSGFWVVLARGVMLVGGPRQVLTL
                     AQNHSRINLMDFNPDPRSRYTFWTFVVGGTLVWLSMYGVNQAQVQRYVACRTEKQAKLA
                     LLINQVGLFLIVSSAACCGIVMFVFYTDCDPLLLGRISAPDQYMPLLVLDIFEDLPGVP
                     GLFLACAYSGTLSTASTSINAMAAVTVEDLIKPRLRSLAPRKLVIISKGLSLIYGSACL
                     TVAALSSLLGGGVLQGSFTVMGVISGPLLGAFILGMFLPACNTPGVLAGLGAGLALSLW
                     VALGATLYPPSEQTMRVLPSSAARCVALSVNASGLLDPALLPANDSSRAPSSGMDASRP
                     ALADSFYAISYLYYGALGTLTTVLCGALISCLTGPTKRSTLAPGLLWWDLARQTASVAP
                     KEEVAILDDNLVKGPEELPTGNKKPPGFLPTNEDRLFFLGQKELEGAGSWTPCVGHDGG
                     RDQQETNL"
     misc_feature    424..486
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92911.1);
                     transmembrane region"
     misc_feature    535..597
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92911.1);
                     transmembrane region"
     misc_feature    640..702
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92911.1);
                     transmembrane region"
     misc_feature    784..846
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92911.1);
                     transmembrane region"
     misc_feature    865..927
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92911.1);
                     transmembrane region"
     misc_feature    934..996
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92911.1);
                     transmembrane region"
     misc_feature    1099..1161
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92911.1);
                     transmembrane region"
     misc_feature    1099..1101
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="Required for homodimerization.
                     /evidence=ECO:0000269|PubMed:31310151; propagated from
                     UniProtKB/Swiss-Prot (Q92911.1); other site"
     misc_feature    1102..1104
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="Required for homodimerization.
                     /evidence=ECO:0000269|PubMed:31310151; propagated from
                     UniProtKB/Swiss-Prot (Q92911.1); other site"
     misc_feature    1234..1296
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92911.1);
                     transmembrane region"
     misc_feature    1354..1416
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92911.1);
                     transmembrane region"
     misc_feature    1549..1611
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92911.1);
                     transmembrane region"
     misc_feature    1624..1686
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92911.1);
                     transmembrane region"
     misc_feature    1708..1770
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92911.1);
                     transmembrane region"
     misc_feature    1786..1788
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="Required for homodimerization.
                     /evidence=ECO:0000269|PubMed:31310151; propagated from
                     UniProtKB/Swiss-Prot (Q92911.1); other site"
     misc_feature    1840..1842
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92911.1); glycosylation site"
     misc_feature    1879..1881
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92911.1); glycosylation site"
     misc_feature    1951..2013
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92911.1);
                     transmembrane region"
     misc_feature    2041..2043
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="Phosphoserine, by PKA. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (Q92911.1);
                     phosphorylation site"
     misc_feature    2242..2304
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92911.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3580..3585
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="hexamer: AATAAA"
     polyA_site      3604
                     /gene="SLC5A5"
                     /gene_synonym="NIS; TDH1"
                     /note="major polyA site"
ORIGIN
        1 gctcccgtaa gccccaaggc gacctccagc tgtcagcgct gagcacagcg cccagggaga
       61 gggacagaca gccggctgca tgggacagcg gaacccagag tgagagggga ggtggcagga
      121 cagacagaca gcaggggcgg acgcagagac agacagcggg gacagggagg ccgacacgga
      181 catcgacagc ccatagattc ctaacccagg gagccccggc ccctctcgcc gcttcccacc
      241 ccagacggag cggggacagg ctgccgagca tcctcccacc cgccctcccc gtcctgcctc
      301 ctcggcccct gccagcttcc cccgcttgag cacgcagggc gtccgaggac gcgctgggcc
      361 tccgcacccg ccctcatgga ggccgtggag accggggaac ggcccacctt cggagcctgg
      421 gactacgggg tctttgccct catgctcctg gtgtccactg gcatcgggct gtgggtcggg
      481 ctggctcggg gcgggcagcg cagcgctgag gacttcttca ccgggggccg gcgcctggcg
      541 gccctgcccg tgggcctgtc gctgtctgcc agcttcatgt cggccgtgca ggtgctgggc
      601 gtgccgtcgg aggcctatcg ctatggcctc aagttcctct ggatgtgcct gggccagctt
      661 ctgaactcgg tcctcaccgc cctgctcttc atgcccgtct tctaccgcct gggcctcacc
      721 agcacctacg agtacctgga gatgcgcttc agccgcgcag tgcggctctg cgggactttg
      781 cagtacattg tagccacgat gctgtacacc ggcatcgtaa tctacgcacc ggccctcatc
      841 ctgaaccaag tgaccgggct ggacatctgg gcgtcgctcc tgtccaccgg aattatctgc
      901 accttctaca cggctgtggg cggcatgaag gctgtggtct ggactgatgt gttccaggtc
      961 gtggtgatgc taagtggctt ctgggttgtc ctggcacgcg gtgtcatgct tgtgggcggg
     1021 ccccgccagg tgctcacgct ggcccagaac cactcccgga tcaacctcat ggactttaac
     1081 cctgacccga ggagccgcta tacattctgg acttttgtgg tgggtggcac gttggtgtgg
     1141 ctctccatgt atggcgtgaa ccaggcgcag gtgcagcgct acgtggcttg ccgcacagag
     1201 aagcaggcca agctggccct gctcatcaac caggtcggcc tgttcctgat cgtgtccagc
     1261 gctgcctgct gtggcatcgt catgtttgtg ttctacactg actgcgaccc tctcctcctg
     1321 gggcgcatct ctgccccaga ccagtacatg cctctgctgg tgctggacat cttcgaagat
     1381 ctgcctggag tccccgggct tttcctggcc tgtgcttaca gtggcaccct cagcacagca
     1441 tccaccagca tcaatgctat ggctgcagtc actgtagaag acctcatcaa acctcggctg
     1501 cggagcctgg cacccaggaa actcgtgatt atctccaagg ggctctcact catctacgga
     1561 tcggcctgtc tcaccgtggc agccctgtcc tcactgctcg gaggaggtgt ccttcagggc
     1621 tccttcaccg tcatgggagt catcagcggc cccctgctgg gagccttcat cttgggaatg
     1681 ttcctgccgg cctgcaacac accgggcgtc ctcgcgggac taggcgcggg cttggcgctg
     1741 tcgctgtggg tggccttggg cgccacgctg tacccaccca gcgagcagac catgagggtc
     1801 ctgccatcgt cggctgcccg ctgcgtggct ctctcagtca acgcctctgg cctcctggac
     1861 ccggctctcc tccctgctaa cgactccagc agggccccca gctcaggaat ggacgccagc
     1921 cgacccgcct tagctgacag cttctatgcc atctcctatc tctattacgg tgccctgggc
     1981 acgctgacca ctgtgctgtg cggagccctc atcagctgcc tgacaggccc caccaagcgc
     2041 agcaccctgg ccccgggatt gttgtggtgg gacctcgcac ggcagacagc atcagtggcc
     2101 cccaaggaag aagtggccat cctggatgac aacttggtca agggtcctga agaactcccc
     2161 actggaaaca agaagccccc tggcttcctg cccaccaatg aggatcgtct gtttttcttg
     2221 gggcagaagg agctggaggg ggctggctct tggaccccct gtgttggaca tgatggtggt
     2281 cgagaccagc aggagacaaa cctctgagga cagggccagc cgcgggactg acaccctggg
     2341 atggaacctc aggatgggcc aaacccagac aacgggccca tggccttggg ctctgattgg
     2401 ctggattgcc ttgtatgcaa atgagttcag gactacaata ccctacccta tggggaggcc
     2461 ctgcctccgg gaggtcattt tttaaatcca gccccttgct tcaaccgtcc ccagtattag
     2521 acgctgcagc cctgacggct ccccccaaat aaggctgggt ttttctctct ctcttttttt
     2581 tttttttttt tttttgagac agggtcatgc tctgtcaccc aggctggagt gcagtggtgt
     2641 gatctcggct cactgcaacc tctgcctccc aggctcaagt gattctcctg cctcagcctc
     2701 ttgagtagct gggattgtag gtgcccacca ccatgcccag ccaacttttt gtatttttag
     2761 tagagacagg gtttcaccat gttggtcagg ctggtctcga actcctgacc tcaagtgatc
     2821 cacctgcctc ggcctcccaa agtgctgggt tacaggcgta agctaccatg cccagcctac
     2881 cgtttttctc aatctataat agaaagccac cacgcccagg taatttttgt aattttgtat
     2941 ttttgtagag acggggtttt gccatgttgg ccaggctggt ctcaaactcc tgatctcagg
     3001 tgatcctcct gccttggcct cccaaagggc tgggattaca ggggtgagcc accgcgcccc
     3061 acctctttct tattttcttc ctgggattgg ggaggggatg attcagaccc cacatggcct
     3121 ccaaccttgg cccacacacc tgccatggct cccatcatcc tgagcatgct agcgtcccct
     3181 cctcacctga caatggaggc tctcgaattg ggttgtgtcc ccccaaaatt tatgtctacc
     3241 cagaacctca gaacatgagc ttacttggaa atagggtctt tgcaggtgta actggttaaa
     3301 ttaaaagagg tattactgga ggaggatgga tgaatccagt gactggttcc tcatatgaag
     3361 tagagaagag atgcagagaa acacatgggg aagatgccac gtgaagacag aggcagtggt
     3421 tggatcaatg catctacgag tcggagaacc caaggattgc cagcaacaac cagaaatcag
     3481 gaggggggca tgagatgcat tatttcttag agcctttaga gggaacatgg ccctactgac
     3541 accttgatgt cagacttctg gctgctagaa ctgtcagaga ataaatttct gttgtttgat
     3601 gcca
//
LOCUS       NM_000454                895 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens superoxide dismutase 1 (SOD1), mRNA.
ACCESSION   NM_000454
VERSION     NM_000454.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 895)
  AUTHORS   Yang B, Pan J, Zhang XN, Wang H, He L, Rong X, Li X and Peng Y.
  TITLE     NRF2 activation suppresses motor neuron ferroptosis induced by the
            SOD1G93A mutation and exerts neuroprotection in amyotrophic lateral
            sclerosis
  JOURNAL   Neurobiol Dis 184, 106210 (2023)
   PUBMED   37352984
  REMARK    GeneRIF: NRF2 activation suppresses motor neuron ferroptosis induced
            by the SOD1[G93A] mutation and exerts neuroprotection in amyotrophic
            lateral sclerosis.
REFERENCE   2  (bases 1 to 895)
  AUTHORS   Yazar V, Kuhlwein JK, Knehr A, Grozdanov V, Ekici AB, Ludolph AC and
            Danzer KM.
  TITLE     Impaired ATF3 signaling involves SNAP25 in SOD1 mutant ALS patients
  JOURNAL   Sci Rep 13 (1), 12019 (2023)
   PUBMED   37491426
  REMARK    GeneRIF: Impaired ATF3 signaling involves SNAP25 in SOD1 mutant ALS
            patients. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 895)
  AUTHORS   La Cognata V, D'Amico AG, Maugeri G, Morello G, Guarnaccia M, Magri
            B, Aronica E, D'Agata V and Cavallaro S.
  TITLE     CXCR2 Is Deregulated in ALS Spinal Cord and Its Activation Triggers
            Apoptosis in Motor Neuron-Like Cells Overexpressing hSOD1-G93A
  JOURNAL   Cells 12 (14), 1813 (2023)
   PUBMED   37508478
  REMARK    GeneRIF: CXCR2 Is Deregulated in ALS Spinal Cord and Its Activation
            Triggers Apoptosis in Motor Neuron-Like Cells Overexpressing
            hSOD1-G93A. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 895)
  AUTHORS   Toczewska J, Baczynska D, Zalewska A, Maciejczyk M and Konopka T.
  TITLE     The mRNA expression of genes encoding selected antioxidant enzymes
            and thioredoxin, and the concentrations of their protein products in
            gingival crevicular fluid and saliva during periodontitis
  JOURNAL   Dent Med Probl 60 (2), 255-265 (2023)
   PUBMED   37390459
  REMARK    GeneRIF: The mRNA expression of genes encoding selected antioxidant
            enzymes and thioredoxin, and the concentrations of their protein
            products in gingival crevicular fluid and saliva during
            periodontitis.
REFERENCE   5  (bases 1 to 895)
  AUTHORS   Azkargorta M, Bregon-Villahoz M, Escobes I, Ibanez-Perez J, Iloro I,
            Iglesias M, Diez-Zapirain M, Rabanal A, Prieto B, Moragues MD,
            Matorras R and Elortza F.
  TITLE     In-depth proteomics and natural peptidomics analyses reveal
            antibacterial peptides in human endometrial fluid
  JOURNAL   J Proteomics 216, 103652 (2020)
   PUBMED   31958637
  REMARK    GeneRIF: SOD1 displays antimicrobial activity against E. coli, E.
            faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast
            C. krusei.
REFERENCE   6  (bases 1 to 895)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301623
REFERENCE   7  (bases 1 to 895)
  AUTHORS   Crapo JD, Oury T, Rabouille C, Slot JW and Chang LY.
  TITLE     Copper,zinc superoxide dismutase is primarily a cytosolic protein in
            human cells
  JOURNAL   Proc Natl Acad Sci U S A 89 (21), 10405-10409 (1992)
   PUBMED   1332049
REFERENCE   8  (bases 1 to 895)
  AUTHORS   Parge HE, Hallewell RA and Tainer JA.
  TITLE     Atomic structures of wild-type and thermostable mutant recombinant
            human Cu,Zn superoxide dismutase
  JOURNAL   Proc Natl Acad Sci U S A 89 (13), 6109-6113 (1992)
   PUBMED   1463506
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1992 Nov 15;89(22):11106]
REFERENCE   9  (bases 1 to 895)
  AUTHORS   Kajihara J, Enomoto M, Nishijima K, Yabuuchi M and Katoh K.
  TITLE     Comparison of properties between human recombinant and placental
            copper-zinc SOD
  JOURNAL   J Biochem 104 (5), 851-854 (1988)
   PUBMED   2853161
REFERENCE   10  (bases 14 to 573)
  AUTHORS   Sherman,L., Dafni,N., Lieman-Hurwitz,J. and Groner,Y.
  TITLE     Nucleotide sequence and expression of human chromosome 21-encoded
            superoxide dismutase mRNA
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 80 (18), 5465-5469 (1983)
   PUBMED   6577438
REFERENCE   11  (bases 1 to 895)
  AUTHORS   Philip,T., Fraisse,J., Sinet,P.M., Lauras,B., Robert,J.M. and
            Freycon,F.
  TITLE     Confirmation of the assignment of the human SODS gene to chromosome
            21q22
  JOURNAL   Cytogenet Cell Genet 22 (1-6), 521-523 (1978)
   PUBMED   752535
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BI547103.1, BX359175.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000270142.11/ ENSP00000270142.7
            Protein has antimicrobial activity :: PMID: 31958637
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AV756797.1, BC001034.1,
            X02317.1 and CA448539.1.
            On Dec 4, 2019 this sequence version replaced NM_000454.4.
            Summary: The protein encoded by this gene binds copper and zinc
            ions and is one of two isozymes responsible for destroying free
            superoxide radicals in the body. The encoded isozyme is a soluble
            cytoplasmic protein, acting as a homodimer to convert
            naturally-occuring but harmful superoxide radicals to molecular
            oxygen and hydrogen peroxide. The other isozyme is a mitochondrial
            protein. In addition, this protein contains an antimicrobial
            peptide that displays antibacterial, antifungal, and anti-MRSA
            activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA
            LPV+, S. agalactiae, and yeast C. krusei. Mutations in this gene
            have been implicated as causes of familial amyotrophic lateral
            sclerosis. Rare transcript variants have been reported for this
            gene. [provided by RefSeq, Jul 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..895
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     gene            1..895
                     /gene="SOD1"
                     /gene_synonym="ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA;
                     SOD; STAHP"
                     /note="superoxide dismutase 1"
                     /db_xref="GeneID:6647"
                     /db_xref="HGNC:HGNC:11179"
                     /db_xref="MIM:147450"
     misc_feature    69..71
                     /gene="SOD1"
                     /gene_synonym="ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA;
                     SOD; STAHP"
                     /note="upstream in-frame stop codon"
     CDS             78..542
                     /gene="SOD1"
                     /gene_synonym="ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA;
                     SOD; STAHP"
                     /EC_number="1.15.1.1"
                     /note="indophenoloxidase A; SOD, soluble; superoxide
                     dismutase, cystolic; Cu/Zn superoxide dismutase; epididymis
                     secretory protein Li 44; superoxide dismutase 1, soluble"
                     /codon_start=1
                     /product="superoxide dismutase [Cu-Zn]"
                     /protein_id="NP_000445.1"
                     /db_xref="CCDS:CCDS33536.1"
                     /db_xref="GeneID:6647"
                     /db_xref="HGNC:HGNC:11179"
                     /db_xref="MIM:147450"
                     /translation="MATKAVCVLKGDGPVQGIINFEQKESNGPVKVWGSIKGLTEGLHG
                     FHVHEFGDNTAGCTSAGPHFNPLSRKHGGPKDEERHVGDLGNVTADKDGVADVSIEDSV
                     ISLSGDHCIIGRTLVVHEKADDLGKGGNEESTKTGNAGSRLACGVIGIAQ"
     mat_peptide     81..140
                     /gene="SOD1"
                     /gene_synonym="ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA;
                     SOD; STAHP"
                     /product="superoxide dismutase [Cu-Zn]"
                     /note="SOD1 antimicrobial peptide 5"
     misc_feature    81..83
                     /gene="SOD1"
                     /gene_synonym="ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA;
                     SOD; STAHP"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000269|PubMed:1463506,
                     ECO:0000269|PubMed:7002610, ECO:0007744|PubMed:25944712;
                     propagated from UniProtKB/Swiss-Prot (P00441.2);
                     acetylation site"
     misc_feature    372..374
                     /gene="SOD1"
                     /gene_synonym="ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA;
                     SOD; STAHP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P00441.2);
                     phosphorylation site"
     misc_feature    384..386
                     /gene="SOD1"
                     /gene_synonym="ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA;
                     SOD; STAHP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P00441.2); phosphorylation site"
     misc_feature    393..395
                     /gene="SOD1"
                     /gene_synonym="ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA;
                     SOD; STAHP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P07632; propagated from
                     UniProtKB/Swiss-Prot (P00441.2); phosphorylation site"
     misc_feature    399..401
                     /gene="SOD1"
                     /gene_synonym="ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA;
                     SOD; STAHP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P08228; propagated from
                     UniProtKB/Swiss-Prot (P00441.2); phosphorylation site"
     misc_feature    444..446
                     /gene="SOD1"
                     /gene_synonym="ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA;
                     SOD; STAHP"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00441.2); acetylation site"
     misc_feature    486..488
                     /gene="SOD1"
                     /gene_synonym="ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA;
                     SOD; STAHP"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P08228; propagated from
                     UniProtKB/Swiss-Prot (P00441.2); acetylation site"
     regulatory      620..625
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOD1"
                     /gene_synonym="ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA;
                     SOD; STAHP"
                     /note="hexamer: ATTAAA"
     polyA_site      641
                     /gene="SOD1"
                     /gene_synonym="ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA;
                     SOD; STAHP"
                     /note="major polyA site"
     regulatory      869..874
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOD1"
                     /gene_synonym="ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA;
                     SOD; STAHP"
                     /note="hexamer: ATTAAA"
     polyA_site      895
                     /gene="SOD1"
                     /gene_synonym="ALS; ALS1; HEL-S-44; homodimer; hSod1; IPOA;
                     SOD; STAHP"
ORIGIN
        1 gcgtcgtagt ctcctgcagc gtctggggtt tccgttgcag tcctcggaac caggacctcg
       61 gcgtggccta gcgagttatg gcgacgaagg ccgtgtgcgt gctgaagggc gacggcccag
      121 tgcagggcat catcaatttc gagcagaagg aaagtaatgg accagtgaag gtgtggggaa
      181 gcattaaagg actgactgaa ggcctgcatg gattccatgt tcatgagttt ggagataata
      241 cagcaggctg taccagtgca ggtcctcact ttaatcctct atccagaaaa cacggtgggc
      301 caaaggatga agagaggcat gttggagact tgggcaatgt gactgctgac aaagatggtg
      361 tggccgatgt gtctattgaa gattctgtga tctcactctc aggagaccat tgcatcattg
      421 gccgcacact ggtggtccat gaaaaagcag atgacttggg caaaggtgga aatgaagaaa
      481 gtacaaagac aggaaacgct ggaagtcgtt tggcttgtgg tgtaattggg atcgcccaat
      541 aaacattccc ttggatgtag tctgaggccc cttaactcat ctgttatcct gctagctgta
      601 gaaatgtatc ctgataaaca ttaaacactg taatcttaaa agtgtaattg tgtgactttt
      661 tcagagttgc tttaaagtac ctgtagtgag aaactgattt atgatcactt ggaagatttg
      721 tatagtttta taaaactcag ttaaaatgtc tgtttcaatg acctgtattt tgccagactt
      781 aaatcacaga tgggtattaa acttgtcaga atttctttgt cattcaagcc tgtgaataaa
      841 aaccctgtat ggcacttatt atgaggctat taaaagaatc caaattcaaa ctaaa
//
LOCUS       NM_000455               3293 bp    mRNA    linear   PRI 26-JUL-2023
DEFINITION  Homo sapiens serine/threonine kinase 11 (STK11), transcript variant
            1, mRNA.
ACCESSION   NM_000455
VERSION     NM_000455.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3293)
  AUTHORS   Sirithawat P, Jusakul A, Kongpetch S, Thanee M, Srichanchara P,
            Panjaroensak S, Kimawaha P, Janthamala S, Aphivatanasiri C and
            Techasen A.
  TITLE     Alteration of STK11 Expression Associated With Cholangiocarcinoma
            Progression
  JOURNAL   In Vivo 37 (4), 1638-1648 (2023)
   PUBMED   37369462
  REMARK    GeneRIF: Alteration of STK11 Expression Associated With
            Cholangiocarcinoma Progression.
REFERENCE   2  (bases 1 to 3293)
  AUTHORS   Jiang LX, Chen YR, Xu ZX, Zhang YH, Zhang Z, Yu PF, Dong ZW, Yang HR
            and Gu GL.
  TITLE     Peutz-Jeghers syndrome without STK11 mutation may correlate with
            less severe clinical manifestations in Chinese patients
  JOURNAL   World J Gastroenterol 29 (21), 3302-3317 (2023)
   PUBMED   37377590
  REMARK    GeneRIF: Peutz-Jeghers syndrome without STK11 mutation may correlate
            with less severe clinical manifestations in Chinese patients.
REFERENCE   3  (bases 1 to 3293)
  AUTHORS   Tan G and Liu B.
  TITLE     Clinicopathological and prognostic significance of LKB1 expression
            in gastric cancer: a systematic review and meta-analysis
  JOURNAL   Sci Rep 13 (1), 8937 (2023)
   PUBMED   37264076
  REMARK    GeneRIF: Clinicopathological and prognostic significance of LKB1
            expression in gastric cancer: a systematic review and meta-analysis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3293)
  AUTHORS   Verma S, Chitikela S, Singh V, Khurana S, Pushpam D, Jain D, Kumar
            S, Gupta Y and Malik PS.
  TITLE     A phase II study of metformin plus pemetrexed and carboplatin in
            patients with non-squamous non-small cell lung cancer (METALUNG)
  JOURNAL   Med Oncol 40 (7), 192 (2023)
   PUBMED   37261532
  REMARK    GeneRIF: A phase II study of metformin plus pemetrexed and
            carboplatin in patients with non-squamous non-small cell lung cancer
            (METALUNG). Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3293)
  AUTHORS   Lee HR, Yoo SJ, Kim J and Kang SW.
  TITLE     LKB1 Regulates Inflammation of Fibroblast-like Synoviocytes from
            Patients with Rheumatoid Arthritis via AMPK-Dependent
            SLC7A11-NOX4-ROS Signaling
  JOURNAL   Cells 12 (9), 1263 (2023)
   PUBMED   37174663
  REMARK    GeneRIF: LKB1 Regulates Inflammation of Fibroblast-like Synoviocytes
            from Patients with Rheumatoid Arthritis via AMPK-Dependent
            SLC7A11-NOX4-ROS Signaling. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3293)
  AUTHORS   Bignell GR, Barfoot R, Seal S, Collins N, Warren W and Stratton MR.
  TITLE     Low frequency of somatic mutations in the LKB1/Peutz-Jeghers
            syndrome gene in sporadic breast cancer
  JOURNAL   Cancer Res 58 (7), 1384-1386 (1998)
   PUBMED   9537235
REFERENCE   7  (bases 1 to 3293)
  AUTHORS   Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A,
            Bignell G, Warren W, Aminoff M, Hoglund P, Jarvinen H, Kristo P,
            Pelin K, Ridanpaa M, Salovaara R, Toro T, Bodmer W, Olschwang S,
            Olsen AS, Stratton MR, de la Chapelle A and Aaltonen LA.
  TITLE     A serine/threonine kinase gene defective in Peutz-Jeghers syndrome
  JOURNAL   Nature 391 (6663), 184-187 (1998)
   PUBMED   9428765
REFERENCE   8  (bases 1 to 3293)
  AUTHORS   Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, Jeschke R, Muller O,
            Back W and Zimmer M.
  TITLE     Peutz-Jeghers syndrome is caused by mutations in a novel serine
            threonine kinase
  JOURNAL   Nat Genet 18 (1), 38-43 (1998)
   PUBMED   9425897
REFERENCE   9  (bases 1 to 3293)
  AUTHORS   Hemminki A, Tomlinson I, Markie D, Jarvinen H, Sistonen P,
            Bjorkqvist AM, Knuutila S, Salovaara R, Bodmer W, Shibata D, de la
            Chapelle A and Aaltonen LA.
  TITLE     Localization of a susceptibility locus for Peutz-Jeghers syndrome to
            19p using comparative genomic hybridization and targeted linkage
            analysis
  JOURNAL   Nat Genet 15 (1), 87-90 (1997)
   PUBMED   8988175
REFERENCE   10  (bases 1 to 3293)
  AUTHORS   McGarrity,T.J., Amos,C.I. and Baker,M.J.
  TITLE     Peutz-Jeghers Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301443
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC019334.1, AF035625.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000326873.12/ ENSP00000324856.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011544.6, BU174122.1,
            BQ222023.1, BC007981.2, BC019334.1, BU739451.1 and BM993274.1.
            On Aug 31, 2019 this sequence version replaced NM_000455.4.
            Summary: The protein encoded by this gene is a serine/threonine
            kinase that regulates cell polarity and energy metabolism and
            functions as a tumor suppressor. Mutations in this gene have been
            associated with the autosomal dominant Peutz-Jeghers syndrome, as
            well as with skin, pancreatic, and testicular cancers. [provided by
            RefSeq, May 2022].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3293
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..3293
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="serine/threonine kinase 11"
                     /db_xref="GeneID:6794"
                     /db_xref="HGNC:HGNC:11389"
                     /db_xref="MIM:602216"
     misc_feature    954..956
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="upstream in-frame stop codon"
     CDS             1137..2438
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /EC_number="2.7.11.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     serine/threonine-protein kinase 11; polarization-related
                     protein LKB1; renal carcinoma antigen NY-REN-19;
                     serine/threonine-protein kinase LKB1; liver kinase B1;
                     serine/threonine-protein kinase STK11"
                     /codon_start=1
                     /product="serine/threonine-protein kinase STK11 isoform 1"
                     /protein_id="NP_000446.1"
                     /db_xref="CCDS:CCDS45896.1"
                     /db_xref="GeneID:6794"
                     /db_xref="HGNC:HGNC:11389"
                     /db_xref="MIM:602216"
                     /translation="MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKL
                     IGKYLMGDLLGEGSYGKVKEVLDSETLCRRAVKILKKKKLRRIPNGEANVKKEIQLLRR
                     LRHKNVIQLVDVLYNEEKQKMYMVMEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQLIDG
                     LEYLHSQGIVHKDIKPGNLLLTTGGTLKISDLGVAEALHPFAADDTCRTSQGSPAFQPP
                     EIANGLDTFSGFKVDIWSAGVTLYNITTGLYPFEGDNIYKLFENIGKGSYAIPGDCGPP
                     LSDLLKGMLEYEPAKRFSIRQIRQHSWFRKKHPPAEAPVPIPPSPDTKDRWRSMTVVPY
                     LEDLHGADEDEDLFDIEDDIIYTQDFTVPGQVPEEEASHNGQRRGLPKAVCMNGTEAAQ
                     LSTKSRAEGRAPNPARKACSASSKIRRLSACKQQ"
     mat_peptide     1137..2426
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /product="Serine/threonine-protein kinase STK11.
                     /id=PRO_0000086699"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15831.1)"
     misc_feature    1227..1229
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15831.1); phosphorylation site"
     misc_feature    1266..1268
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:18687677; propagated from
                     UniProtKB/Swiss-Prot (Q15831.1); acetylation site"
     misc_feature    1269..1406
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15831.1);
                     Region: Sufficient for interaction with SIRT1.
                     /evidence=ECO:0000269|PubMed:18687677"
     misc_feature    1278..1280
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:18687677; propagated from
                     UniProtKB/Swiss-Prot (Q15831.1); acetylation site"
     misc_feature    1422..1424
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:18687677; propagated from
                     UniProtKB/Swiss-Prot (Q15831.1); acetylation site"
     misc_feature    1425..1427
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:18687677; propagated from
                     UniProtKB/Swiss-Prot (Q15831.1); acetylation site"
     misc_feature    1701..1703
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:11430832; propagated from
                     UniProtKB/Swiss-Prot (Q15831.1); phosphorylation site"
     misc_feature    2022..2024
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:18687677; propagated from
                     UniProtKB/Swiss-Prot (Q15831.1); acetylation site"
     misc_feature    2067..2069
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:18687677; propagated from
                     UniProtKB/Swiss-Prot (Q15831.1); acetylation site"
     misc_feature    2070..2129
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15831.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2109..2111
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9WTK7; propagated from
                     UniProtKB/Swiss-Prot (Q15831.1); phosphorylation site"
     misc_feature    2142..2144
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:12805220; propagated from
                     UniProtKB/Swiss-Prot (Q15831.1); phosphorylation site"
     misc_feature    2223..2225
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="Phosphothreonine, by ATM and autocatalysis.
                     /evidence=ECO:0000269|PubMed:12805220; propagated from
                     UniProtKB/Swiss-Prot (Q15831.1); phosphorylation site"
     misc_feature    2325..2435
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15831.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2331..2333
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:23612973; propagated from
                     UniProtKB/Swiss-Prot (Q15831.1); phosphorylation site"
     misc_feature    2337..2339
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15831.1); phosphorylation site"
     misc_feature    2382..2384
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:18687677; propagated from
                     UniProtKB/Swiss-Prot (Q15831.1); acetylation site"
     misc_feature    2403..2405
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:18687677; propagated from
                     UniProtKB/Swiss-Prot (Q15831.1); acetylation site"
     misc_feature    2418..2420
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="Phosphoserine, by autocatalysis, PKA, PKC/PRKCZ and
                     RPS6KA1. /evidence=ECO:0000269|PubMed:18854309; propagated
                     from UniProtKB/Swiss-Prot (Q15831.1); phosphorylation site"
     misc_feature    2424..2426
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="Cysteine methyl ester. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q15831.1);
                     methylation site"
     misc_feature    2427..2429
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:18687677; propagated from
                     UniProtKB/Swiss-Prot (Q15831.1); acetylation site"
     regulatory      2940..2945
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="hexamer: AATAAA"
     polyA_site      2957
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
     regulatory      3272..3277
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="hexamer: AATAAA"
     polyA_site      3293
                     /gene="STK11"
                     /gene_synonym="hLKB1; LKB1; PJS"
                     /note="major polyA site"
ORIGIN
        1 gaggtaaaca agatggcggc ggcgtgtcgg gcgcggaagg gggaggcggc ccggggcgcc
       61 cgcgagtgag gcgcggggcg gcgaagggag cgcgggtggc ggcacttgct gccgcggcct
      121 tggatgggct gggcccccct cgccgctccg cctcctccac acgcgcggcg gccgcggcga
      181 gggggacgcg ccgcccgggg cccggcacct tcgggaaccc cccggcccgg agcctgcggc
      241 ctgcgccgcc tcggccgccg ggagccccgt ggagcccccg ccgccgcgcc gccccgcgga
      301 ccggacgctg agggcactcg gggcggggcg cgcgctcggg cagacgtttg cggggagggg
      361 ggcgcctgcc gggccccggc gaccaccttg ggggtcgcgg gccggctcgg ggggcgccca
      421 gtgcgggccc tcgcgggcgc cgggcagcga ccagccctga gcggagctgt tggccgcggc
      481 gggaggcctc ccggacgccc ccagcccccc gaacgctcgc ccgggccggc gggagtcggc
      541 gccccccggg aggtccgctc ggtcgtccgc ggcggagcgt ttgctcctgg gacaggcggt
      601 gggaccgggg cgtcgccgga gacgccccca gcgaagttgg gctctccagg tgtgggggtc
      661 ccggggggta gcgacgtcgc ggacccggcc tgtgggatgg gcggcccgga gaagactgcg
      721 ctcggccgtg ttcatacttg tccgtgggcc tgaggtcccc ggaggatgac ctagcactga
      781 aaagccccgg ccggcctccc cagggtcccc gaggacgaag ttgaccctga ccgggccgtc
      841 tcccagttct gaggcccggg tcccactgga actcgcgtct gagccgccgt cccggacccc
      901 cggtgcccgc cggtccgcag accctgcacc gggcttggac tcgcagccgg gactgacgtg
      961 tagaacaatc gtttctgttg gaagaagggt ttttcccttc cttttggggt ttttgttgcc
     1021 tttttttttt cttttttctt tgtaaaattt tggagaaggg aagtcggaac acaaggaagg
     1081 accgctcacc cgcggactca gggctggcgg cgggactcca ggaccctggg tccagcatgg
     1141 aggtggtgga cccgcagcag ctgggcatgt tcacggaggg cgagctgatg tcggtgggta
     1201 tggacacgtt catccaccgc atcgactcca ccgaggtcat ctaccagccg cgccgcaagc
     1261 gggccaagct catcggcaag tacctgatgg gggacctgct gggggaaggc tcttacggca
     1321 aggtgaagga ggtgctggac tcggagacgc tgtgcaggag ggccgtcaag atcctcaaga
     1381 agaagaagtt gcgaaggatc cccaacgggg aggccaacgt gaagaaggaa attcaactac
     1441 tgaggaggtt acggcacaaa aatgtcatcc agctggtgga tgtgttatac aacgaagaga
     1501 agcagaaaat gtatatggtg atggagtact gcgtgtgtgg catgcaggaa atgctggaca
     1561 gcgtgccgga gaagcgtttc ccagtgtgcc aggcccacgg gtacttctgt cagctgattg
     1621 acggcctgga gtacctgcat agccagggca ttgtgcacaa ggacatcaag ccggggaacc
     1681 tgctgctcac caccggtggc accctcaaaa tctccgacct gggcgtggcc gaggcactgc
     1741 acccgttcgc ggcggacgac acctgccgga ccagccaggg ctccccggct ttccagccgc
     1801 ccgagattgc caacggcctg gacaccttct ccggcttcaa ggtggacatc tggtcggctg
     1861 gggtcaccct ctacaacatc accacgggtc tgtacccctt cgaaggggac aacatctaca
     1921 agttgtttga gaacatcggg aaggggagct acgccatccc gggcgactgt ggccccccgc
     1981 tctctgacct gctgaaaggg atgcttgagt acgaaccggc caagaggttc tccatccggc
     2041 agatccggca gcacagctgg ttccggaaga aacatcctcc ggctgaagca ccagtgccca
     2101 tcccaccgag cccagacacc aaggaccggt ggcgcagcat gactgtggtg ccgtacttgg
     2161 aggacctgca cggcgcggac gaggacgagg acctcttcga catcgaggat gacatcatct
     2221 acactcagga cttcacggtg cccggacagg tcccagaaga ggaggccagt cacaatggac
     2281 agcgccgggg cctccccaag gccgtgtgta tgaacggcac agaggcggcg cagctgagca
     2341 ccaaatccag ggcggagggc cgggccccca accctgcccg caaggcctgc tccgccagca
     2401 gcaagatccg ccggctgtcg gcctgcaagc agcagtgagg ctggccgcct gcagcccgtg
     2461 tccaggagcc ccgccaggtg cccgcgccag gccctcagtc ttcctgccgg ttccgcccgc
     2521 cctcccggag aggtggccgc catgcttctg tgccgaccac gccccaggac ctccggagcg
     2581 ccctgcaggg ccgggcaggg ggacagcagg gaccgggcgc agccctcccc cctcggccgc
     2641 ccggcagtgc acgcggcttg ttgacttcgc agccccgggc ggagccttcc cgggcgggcg
     2701 tgggaggagg gaggcggcct ccatgcactt tatgtggaga ctactggccc cgcccgtggc
     2761 ctcgtgctcc gcagggcgcc cagcgccgtc cggcggcccc gccgcagacc agctggcggg
     2821 tgtggagacc aggctcctga ccccgccatg catgcagcgc cacctggaag ccgcgcggcc
     2881 gctttggttt tttgtttggt tggttccatt ttcttttttt cttttttttt ttaagaaaaa
     2941 ataaaaggtg gatttgagct gtggctgtga ggggtgtttg ggagctgctg ggtggcaggg
     3001 gggctgtggg gtcgggctca cgtcgcggcc gcctttgcgc tctcgggtca ccctgctttg
     3061 gcggcccggc cggagggcag gaccctcacc tctcccccaa ggccactgcg ctcttgggac
     3121 cccagagaaa acccggagca agcaggagtg tgcggtcaat atttatatca tccagaaaag
     3181 aaaaacacga gaaacgccat cgcgggatgg tgcagacgcg gcggggactc ggagggtgcc
     3241 gtgcgggcga ggccgcccaa atttggcaat aaataaagct tgggaagctt gga
//
LOCUS       NM_000458               2790 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.
ACCESSION   NM_000458
VERSION     NM_000458.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2790)
  AUTHORS   Grand K, Stoltz M, Rizzo L, Rock R, Kaminski MM, Salinas G, Getwan
            M, Naert T, Pichler R and Lienkamp SS.
  TITLE     HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of
            Target Genes
  JOURNAL   J Am Soc Nephrol 34 (3), 412-432 (2023)
   PUBMED   36522156
  REMARK    GeneRIF: HNF1B Alters an Evolutionarily Conserved Nephrogenic
            Program of Target Genes.
REFERENCE   2  (bases 1 to 2790)
  AUTHORS   Gambella A, Kalantari S, Cadamuro M, Quaglia M, Delvecchio M, Fabris
            L and Pinon M.
  TITLE     The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored
  JOURNAL   Cells 12 (2), 307 (2023)
   PUBMED   36672242
  REMARK    GeneRIF: The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully
            Explored. Review article Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2790)
  AUTHORS   Maestro MA, Cardalda C, Boj SF, Luco RF, Servitja JM and Ferrer J.
  TITLE     Distinct roles of HNF1beta, HNF1alpha, and HNF4alpha in regulating
            pancreas development, beta-cell function and growth
  JOURNAL   Endocr Dev 12, 33-45 (2007)
   PUBMED   17923767
  REMARK    GeneRIF: Findings implicate HNF1beta as a regulator of pancreas
            organogenesis and differentiation. [REVIEW] Review article
REFERENCE   4  (bases 1 to 2790)
  AUTHORS   Senkel S, Lucas B, Klein-Hitpass L and Ryffel GU.
  TITLE     Identification of target genes of the transcription factor HNF1beta
            and HNF1alpha in a human embryonic kidney cell line
  JOURNAL   Biochim Biophys Acta 1731 (3), 179-190 (2005)
   PUBMED   16297991
  REMARK    GeneRIF: we propose that HNF1beta overexpression in the ovarian
            cancer participates in the altered expression pattern
REFERENCE   5  (bases 1 to 2790)
  AUTHORS   Horikawa,Y., Iwasaki,N., Hara,M., Furuta,H., Hinokio,Y.,
            Cockburn,B.N., Lindner,T., Yamagata,K., Ogata,M., Tomonaga,O.,
            Kuroki,H., Kasahara,T., Iwamoto,Y. and Bell,G.I.
  TITLE     Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated
            with MODY
  JOURNAL   Nat Genet 17 (4), 384-385 (1997)
   PUBMED   9398836
REFERENCE   6  (bases 1 to 2790)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   29792621
REFERENCE   7  (bases 1 to 2790)
  AUTHORS   Mitchel,M.W., Moreno-De-Luca,D., Myers,S.M., Levy,R.V., Turner,S.,
            Ledbetter,D.H. and Martin,C.L.
  TITLE     17q12 Recurrent Deletion Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   27929632
REFERENCE   8  (bases 1 to 2790)
  AUTHORS   Bach I, Mattei MG, Cereghini S and Yaniv M.
  TITLE     Two members of an HNF1 homeoprotein family are expressed in human
            liver
  JOURNAL   Nucleic Acids Res 19 (13), 3553-3559 (1991)
   PUBMED   1677179
REFERENCE   9  (bases 1 to 2790)
  AUTHORS   Mendel DB, Hansen LP, Graves MK, Conley PB and Crabtree GR.
  TITLE     HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo
            domains, but not activation domains, and form heterodimers in vitro
  JOURNAL   Genes Dev 5 (6), 1042-1056 (1991)
   PUBMED   2044952
REFERENCE   10  (bases 1 to 2790)
  AUTHORS   Abbott C, Piaggio G, Ammendola R, Solomon E, Povey S, Gounari F, De
            Simone V and Cortese R.
  TITLE     Mapping of the gene TCF2 coding for the transcription factor LFB3 to
            human chromosome 17 by polymerase chain reaction
  JOURNAL   Genomics 8 (1), 165-167 (1990)
   PUBMED   2081590
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC017714.1, X58840.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000617811.5/ ENSP00000480291.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC017714.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000458.3.
            Summary: This gene encodes a member of the homeodomain-containing
            superfamily of transcription factors. The protein binds to DNA as
            either a homodimer, or a heterodimer with the related protein
            hepatocyte nuclear factor 1-alpha. The gene has been shown to
            function in nephron development, and regulates development of the
            embryonic pancreas. Mutations in this gene result in renal cysts
            and diabetes syndrome and noninsulin-dependent diabetes mellitus,
            and expression of this gene is altered in some types of cancer.
            Multiple transcript variants encoding different isoforms have been
            found for this gene.[provided by RefSeq, Sep 2009].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2790
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..2790
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /note="HNF1 homeobox B"
                     /db_xref="GeneID:6928"
                     /db_xref="HGNC:HGNC:11630"
                     /db_xref="MIM:189907"
     misc_feature    104..106
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /note="upstream in-frame stop codon"
     CDS             176..1849
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hepatocyte nuclear factor 1-beta; transcription factor 2,
                     hepatic; HNF1 beta A; homeoprotein LFB3"
                     /codon_start=1
                     /product="hepatocyte nuclear factor 1-beta isoform 1"
                     /protein_id="NP_000449.1"
                     /db_xref="CCDS:CCDS11324.1"
                     /db_xref="GeneID:6928"
                     /db_xref="HGNC:HGNC:11630"
                     /db_xref="MIM:189907"
                     /translation="MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLET
                     LPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGSEDGDDYDTPPILKELQALNTEEAA
                     EQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPMKTQ
                     KRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDA
                     CSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPS
                     KAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPS
                     SSPPNKLSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPD
                     GKMISVSGGGLPPVSTLTNIHSLSHHNPQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPV
                     INSVAGSLAALQPVQFSQQLHSPHQQPLMQQSPGSHMAQQPFMAAVTQLQNSHMYAHKQ
                     EPPQYSHTSRFPSAMVVTDTSSISTLTNMSSSKQCPLQAW"
     misc_feature    176..268
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35680.1);
                     Region: Dimerization. /evidence=ECO:0000250"
     misc_feature    320..322
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P27889; propagated from
                     UniProtKB/Swiss-Prot (P35680.1); phosphorylation site"
     misc_feature    329..331
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P27889; propagated from
                     UniProtKB/Swiss-Prot (P35680.1); phosphorylation site"
     misc_feature    365..430
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35680.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    398..400
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P27889; propagated from
                     UniProtKB/Swiss-Prot (P35680.1); phosphorylation site"
     misc_feature    413..415
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P27889; propagated from
                     UniProtKB/Swiss-Prot (P35680.1); phosphorylation site"
     misc_feature    1145..1231
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35680.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2766..2771
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /note="hexamer: ATTAAA"
     polyA_site      2790
                     /gene="HNF1B"
                     /gene_synonym="ADTKD3; FJHN; HNF-1-beta; HNF-1B; HNF1beta;
                     HNF2; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2;
                     VHNF1"
                     /note="major polyA site"
ORIGIN
        1 agaagttttc tgactccttt cggaggagcc tccgggaccc cggggagtaa caggtgtctg
       61 gaggctgaag ggtggagggg ttcctggatt tggggtttgc ttgtgaaact cccctccacc
      121 ctcctctctc gcacccaccc accccctcac ccccttcttt ttccgtcctt ggaaaatggt
      181 gtccaagctc acgtcgctcc agcaagaact cctgagcgcc ctgctgagct ccggggtcac
      241 caaggaggtg ctggttcagg ccttggagga gttgctgcca tccccgaact tcggggtgaa
      301 gctggagacg ctgcccctgt cccctggcag cggggccgag cccgacacca agccggtctt
      361 ccatactctc accaacggcc acgccaaggg ccgcttgtcc ggcgacgagg gctccgagga
      421 cggcgacgac tatgacacac ctcccatcct caaggagctg caggcgctca acaccgagga
      481 ggcggcggag cagcgggcgg aggtggaccg gatgctcagt gaggaccctt ggagggctgc
      541 taaaatgatc aagggttaca tgcagcaaca caacatcccc cagagggagg tggtcgatgt
      601 caccggcctg aaccagtcgc acctctccca gcatctcaac aagggcaccc ctatgaagac
      661 ccagaagcgt gccgctctgt acacctggta cgtcagaaag caacgagaga tcctccgaca
      721 attcaaccag acagtccaga gttctggaaa tatgacagac aaaagcagtc aggatcagct
      781 gctgtttctc tttccagagt tcagtcaaca gagccatggg cctgggcagt ccgatgatgc
      841 ctgctctgag cccaccaaca agaagatgcg ccgcaaccgg ttcaaatggg ggcccgcgtc
      901 ccagcaaatc ttgtaccagg cctacgatcg gcaaaagaac cccagcaagg aagagagaga
      961 ggccttagtg gaggaatgca acagggcaga atgtttgcag cgaggggtgt ccccctccaa
     1021 agcccacggc ctgggctcca acttggtcac tgaggtccgt gtctacaact ggtttgcaaa
     1081 ccgcaggaag gaggaggcat tccggcaaaa gctggccatg gacgcctata gctccaacca
     1141 gactcacagc ctgaaccctc tgctctccca cggctccccc caccaccagc ccagctcctc
     1201 tcctccaaac aagctgtcag gagtgcgcta cagccagcag ggaaacaatg agatcacttc
     1261 ctcctcaaca atcagtcacc atggcaacag cgccatggtg accagccagt cggttttaca
     1321 gcaagtctcc ccagccagcc tggacccagg ccacaatctc ctctcacctg atggtaaaat
     1381 gatctcagtc tcaggaggag gtttgccccc agtcagcacc ttgacgaata tccacagcct
     1441 ctcccaccat aatccccagc aatctcaaaa cctcatcatg acacccctct ctggagtcat
     1501 ggcaattgca caaagcctca acacctccca agcacagagt gtccctgtca tcaacagtgt
     1561 ggccggcagc ctggcagccc tgcagcccgt ccagttctcc cagcagctgc acagccctca
     1621 ccagcagccc ctcatgcagc agagcccagg cagccacatg gcccagcagc ccttcatggc
     1681 agctgtgact cagctgcaga actcacacat gtacgcacac aagcaggaac ccccccagta
     1741 ttcccacacc tcccggtttc catctgcaat ggtggtcaca gataccagca gcatcagtac
     1801 actcaccaac atgtcttcaa gtaaacagtg tcctctacaa gcctggtgat gcccacacac
     1861 cacttacttc gtgcgcaaca acaaggaccc tgttttccac accatcaccc tctgggcagc
     1921 tgtcatggaa aagcccagtg acctgaccag cacctgcgag aggtccctgc ttacctgacg
     1981 gacgtcctgc tggcacctca gacaatccac tctcaggagg cgcagcccga agcccagttt
     2041 cccttctatg cagtattgcc acaatgcctc tcccacgatg tcaaggactc ctgtctgtcc
     2101 tggaggtggg agacaaggaa cctccgaaga ggaagcaaga aagccgtact gtctatgttg
     2161 tgatccttca tcgaacaaac tgatgcgaaa acttgaatct gttactgaaa tgaggagaga
     2221 aggacatgtg ctattgaact gagccaaaca cactgtaaat atccacagac tccctcccct
     2281 gcccccatcc caaatgatct tgagatttct tttaaagaag taaatttgtc caatggctgt
     2341 aaactataaa ctactgtaat taagtgcaat ttcccctctg tgtcctctcc cctctgccct
     2401 gtatataata ctaaagtgtc tattagtttt ctttgtaaag gtcagagtca aaatttcaaa
     2461 agtgatctgt cccctctccc ctcatggaga aacatcctaa gtgggaagtg aagccccttg
     2521 tcctctcccg cgggcctgga cacttatggg gacagcatac cttggactga ctaccagcta
     2581 actccagtct cctgacatta agacacacct ctggatccct ggaggggctg aatgtagtgt
     2641 gtcagagtaa catgccagct tcctgtgggc caggagctca gccgtgcact ccctaagaaa
     2701 ccccagggca gggaaactgg ctgtttgata gcagaagaaa aagttgcagt ctcagaaagc
     2761 cttccattaa aacaatttat tttatcacta
//
LOCUS       NM_000459               4683 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens TEK receptor tyrosine kinase (TEK), transcript variant
            1, mRNA.
ACCESSION   NM_000459
VERSION     NM_000459.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4683)
  AUTHORS   Dieter C, Lemos NE, de Faria Correa NR, Assmann TS, Pellenz FM,
            Canani LH, de Almeida Brondani L, Bauer AC and Crispim D.
  TITLE     Polymorphisms in TIE2 and ANGPT-1 genes are associated with
            protection against diabetic retinopathy in a Brazilian population
  JOURNAL   Arch Endocrinol Metab 67 (5), e000624 (2023)
   PUBMED   37249455
  REMARK    GeneRIF: Polymorphisms in TIE2 and ANGPT-1 genes are associated with
            protection against diabetic retinopathy in a Brazilian population.
REFERENCE   2  (bases 1 to 4683)
  AUTHORS   Chen Y and Wu Y.
  TITLE     Hsa_circ_0070661 inhibits cancer progression through miR-556-5p/TEK
            axis in lung adenocarcinoma
  JOURNAL   Cancer Biomark 37 (1), 53-66 (2023)
   PUBMED   37005879
  REMARK    GeneRIF: Hsa_circ_0070661 inhibits cancer progression through
            miR-556-5p/TEK axis in lung adenocarcinoma.
REFERENCE   3  (bases 1 to 4683)
  AUTHORS   Jin P, Zhang J, Sumariwalla PF, Ni I, Jorgensen B, Crawford D,
            Phillips S, Feldmann M, Shepard HM and Paleolog EM.
  TITLE     Novel splice variants derived from the receptor tyrosine kinase
            superfamily are potential therapeutics for rheumatoid arthritis
  JOURNAL   Arthritis Res Ther 10 (4), R73 (2008)
   PUBMED   18593464
REFERENCE   4  (bases 1 to 4683)
  AUTHORS   Park EH, Lee JM and Pelletier J.
  TITLE     The Tie2 5' untranslated region is inhibitory to 5' end-mediated
            translation initiation
  JOURNAL   FEBS Lett 580 (5), 1309-1319 (2006)
   PUBMED   16457819
  REMARK    GeneRIF: the uORFs within the Tie2 5' UTR serve to decrease the
            percent of ribosomes competent for reinitiation as these traverse
            the mRNA 5' UTR, thus minimizing interference with the internal
            ribosome entry site
REFERENCE   5  (bases 1 to 4683)
  AUTHORS   Park EH, Lee JM, Blais JD, Bell JC and Pelletier J.
  TITLE     Internal translation initiation mediated by the angiogenic factor
            Tie2
  JOURNAL   J Biol Chem 280 (22), 20945-20953 (2005)
   PUBMED   15802272
  REMARK    GeneRIF: Tie2 mediates internal translation initiation
REFERENCE   6  (bases 1 to 4683)
  AUTHORS   Huang L, Turck CW, Rao P and Peters KG.
  TITLE     GRB2 and SH-PTP2: potentially important endothelial signaling
            molecules downstream of the TEK/TIE2 receptor tyrosine kinase
  JOURNAL   Oncogene 11 (10), 2097-2103 (1995)
   PUBMED   7478529
REFERENCE   7  (bases 1 to 4683)
  AUTHORS   Dumont DJ, Anderson L, Breitman ML and Duncan AM.
  TITLE     Assignment of the endothelial-specific protein receptor tyrosine
            kinase gene (TEK) to human chromosome 9p21
  JOURNAL   Genomics 23 (2), 512-513 (1994)
   PUBMED   7835909
REFERENCE   8  (bases 1 to 4683)
  AUTHORS   Seront,E., Boon,L.M. and Vikkula,M.
  TITLE     TEK-Related Venous Malformations
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301733
REFERENCE   9  (bases 1 to 4683)
  AUTHORS   Abu-Amero,K.K. and Edward,D.P.
  TITLE     Primary Congenital Glaucoma
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301314
REFERENCE   10  (bases 1 to 4683)
  AUTHORS   Partanen J, Armstrong E, Makela TP, Korhonen J, Sandberg M, Renkonen
            R, Knuutila S, Huebner K and Alitalo K.
  TITLE     A novel endothelial cell surface receptor tyrosine kinase with
            extracellular epidermal growth factor homology domains
  JOURNAL   Mol Cell Biol 12 (4), 1698-1707 (1992)
   PUBMED   1312667
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC035514.1, AB208796.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380036.10/ ENSP00000369375.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            regulatory uORF             :: PMID: 16457819
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355432.7, AL355433.6 and
            AL133411.9.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 16, 2020 this sequence version replaced NM_000459.4.
            Summary: This gene encodes a receptor that belongs to the protein
            tyrosine kinase Tie2 family. The encoded protein possesses a unique
            extracellular region that contains two immunoglobulin-like domains,
            three epidermal growth factor (EGF)-like domains and three
            fibronectin type III repeats. The ligand angiopoietin-1 binds to
            this receptor and mediates a signaling pathway that functions in
            embryonic vascular development. Mutations in this gene are
            associated with inherited venous malformations of the skin and
            mucous membranes. Alternative splicing results in multiple
            transcript variants. Additional alternatively spliced transcript
            variants of this gene have been described, but their full-length
            nature is not known. [provided by RefSeq, Feb 2014].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4683
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.2"
     gene            1..4683
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="TEK receptor tyrosine kinase"
                     /db_xref="GeneID:7010"
                     /db_xref="HGNC:HGNC:11724"
                     /db_xref="MIM:600221"
     misc_feature    265..267
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="upstream in-frame stop codon"
     CDS             367..3741
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /EC_number="2.7.10.1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; angiopoietin-1 receptor; tyrosine-protein kinase
                     receptor TEK; tunica interna endothelial cell kinase;
                     tyrosine-protein kinase receptor TIE-2; endothelial
                     tyrosine kinase; tyrosine kinase with Ig and EGF homology
                     domains-2; TEK tyrosine kinase, endothelial"
                     /codon_start=1
                     /product="angiopoietin-1 receptor isoform 1 precursor"
                     /protein_id="NP_000450.3"
                     /db_xref="CCDS:CCDS6519.1"
                     /db_xref="GeneID:7010"
                     /db_xref="HGNC:HGNC:11724"
                     /db_xref="MIM:600221"
                     /translation="MDSLASLVLCGVSLLLSGTVEGAMDLILINSLPLVSDAETSLTCI
                     ASGWRPHEPITIGRDFEALMNQHQDPLEVTQDVTREWAKKVVWKREKASKINGAYFCEG
                     RVRGEAIRIRTMKMRQQASFLPATLTMTVDKGDNVNISFKKVLIKEEDAVIYKNGSFIH
                     SVPRHEVPDILEVHLPHAQPQDAGVYSARYIGGNLFTSAFTRLIVRRCEAQKWGPECNH
                     LCTACMNNGVCHEDTGECICPPGFMGRTCEKACELHTFGRTCKERCSGQEGCKSYVFCL
                     PDPYGCSCATGWKGLQCNEACHPGFYGPDCKLRCSCNNGEMCDRFQGCLCSPGWQGLQC
                     EREGIQRMTPKIVDLPDHIEVNSGKFNPICKASGWPLPTNEEMTLVKPDGTVLHPKDFN
                     HTDHFSVAIFTIHRILPPDSGVWVCSVNTVAGMVEKPFNISVKVLPKPLNAPNVIDTGH
                     NFAVINISSEPYFGDGPIKSKKLLYKPVNHYEAWQHIQVTNEIVTLNYLEPRTEYELCV
                     QLVRRGEGGEGHPGPVRRFTTASIGLPPPRGLNLLPKSQTTLNLTWQPIFPSSEDDFYV
                     EVERRSVQKSDQQNIKVPGNLTSVLLNNLHPREQYVVRARVNTKAQGEWSEDLTAWTLS
                     DILPPQPENIKISNITHSSAVISWTILDGYSISSITIRYKVQGKNEDQHVDVKIKNATI
                     TQYQLKGLEPETAYQVDIFAENNIGSSNPAFSHELVTLPESQAPADLGGGKMLLIAILG
                     SAGMTCLTVLLAFLIILQLKRANVQRRMAQAFQNVREEPAVQFNSGTLALNRKVKNNPD
                     PTIYPVLDWNDIKFQDVIGEGNFGQVLKARIKKDGLRMDAAIKRMKEYASKDDHRDFAG
                     ELEVLCKLGHHPNIINLLGACEHRGYLYLAIEYAPHGNLLDFLRKSRVLETDPAFAIAN
                     STASTLSSQQLLHFAADVARGMDYLSQKQFIHRDLAARNILVGENYVAKIADFGLSRGQ
                     EVYVKKTMGRLPVRWMAIESLNYSVYTTNSDVWSYGVLLWEIVSLGGTPYCGMTCAELY
                     EKLPQGYRLEKPLNCDDEVYDLMRQCWREKPYERPSFAQILVSLNRMLEERKTYVNTTL
                     YEKFTYAGIDCSAEEAA"
     sig_peptide     367..432
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     433..3738
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /product="Angiopoietin-1 receptor. /id=PRO_0000024474"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02763.2)"
     misc_feature    784..786
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16732286; propagated from
                     UniProtKB/Swiss-Prot (Q02763.2); glycosylation site"
     misc_feature    838..840
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q02763.2); glycosylation site"
     misc_feature    1561..1563
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q02763.2); glycosylation site"
     misc_feature    1678..1680
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q02763.2); glycosylation site"
     misc_feature    1756..1758
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q02763.2); glycosylation site"
     misc_feature    2044..2046
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q02763.2); glycosylation site"
     misc_feature    2152..2154
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q02763.2); glycosylation site"
     misc_feature    2311..2313
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q02763.2); glycosylation site"
     misc_feature    2437..2439
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q02763.2); glycosylation site"
     misc_feature    2611..2673
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02763.2);
                     transmembrane region"
     misc_feature    2944..2946
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:11513602; propagated from
                     UniProtKB/Swiss-Prot (Q02763.2); phosphorylation site"
     misc_feature    3340..3342
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:11513602; propagated from
                     UniProtKB/Swiss-Prot (Q02763.2); phosphorylation site"
     misc_feature    3670..3672
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:14665640,
                     ECO:0000269|PubMed:27270174; propagated from
                     UniProtKB/Swiss-Prot (Q02763.2); phosphorylation site"
     misc_feature    3688..3690
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:11513602; propagated from
                     UniProtKB/Swiss-Prot (Q02763.2); phosphorylation site"
     regulatory      4656..4661
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="hexamer: AATAAA"
     polyA_site      4683
                     /gene="TEK"
                     /gene_synonym="CD202B; GLC3E; TIE-2; TIE2; VMCM; VMCM1"
                     /note="major polyA site"
ORIGIN
        1 ctctgcccct acagcagcag caaaagcagc agcagaagca acagcaacag ataagtgttt
       61 tgatgaattg cgagatggat agggcttgag tgcccccagc cctgctgata ccaaatgcct
      121 ttaagataca gcctttccca tcctaatcta caaaggaaac aggaaaaagg aacttaaaac
      181 tccctgtgct cagacagaaa tgagactgtt acagcctgct tctgtgctgt tccttcttgc
      241 ctctaacttg taaacaagac gtagtaggac gatgctaatg gaaagtcaca aaccgctggg
      301 tttttgaaag gatccttggg acctcatgca catttgtgga aactggatgg agagatttgg
      361 ggaagcatgg actctttagc cagcttagtt ctctgtggag tcagcttgct cctttctgga
      421 actgtggaag gtgccatgga cttgatcttg atcaattccc tacctcttgt atctgatgct
      481 gaaacatctc tcacctgcat tgcctctggg tggcgccccc atgagcccat caccatagga
      541 agggactttg aagccttaat gaaccagcac caggatccgc tggaagttac tcaagatgtg
      601 accagagaat gggctaaaaa agttgtttgg aagagagaaa aggctagtaa gatcaatggt
      661 gcttatttct gtgaagggcg agttcgagga gaggcaatca ggatacgaac catgaagatg
      721 cgtcaacaag cttccttcct accagctact ttaactatga ctgtggacaa gggagataac
      781 gtgaacatat ctttcaaaaa ggtattgatt aaagaagaag atgcagtgat ttacaaaaat
      841 ggttccttca tccattcagt gccccggcat gaagtacctg atattctaga agtacacctg
      901 cctcatgctc agccccagga tgctggagtg tactcggcca ggtatatagg aggaaacctc
      961 ttcacctcgg ccttcaccag gctgatagtc cggagatgtg aagcccagaa gtggggacct
     1021 gaatgcaacc atctctgtac tgcttgtatg aacaatggtg tctgccatga agatactgga
     1081 gaatgcattt gccctcctgg gtttatggga aggacgtgtg agaaggcttg tgaactgcac
     1141 acgtttggca gaacttgtaa agaaaggtgc agtggacaag agggatgcaa gtcttatgtg
     1201 ttctgtctcc ctgaccccta tgggtgttcc tgtgccacag gctggaaggg tctgcagtgc
     1261 aatgaagcat gccaccctgg tttttacggg ccagattgta agcttaggtg cagctgcaac
     1321 aatggggaga tgtgtgatcg cttccaagga tgtctctgct ctccaggatg gcaggggctc
     1381 cagtgtgaga gagaaggcat acagaggatg accccaaaga tagtggattt gccagatcat
     1441 atagaagtaa acagtggtaa atttaatccc atttgcaaag cttctggctg gccgctacct
     1501 actaatgaag aaatgaccct ggtgaagccg gatgggacag tgctccatcc aaaagacttt
     1561 aaccatacgg atcatttctc agtagccata ttcaccatcc accggatcct cccccctgac
     1621 tcaggagttt gggtctgcag tgtgaacaca gtggctggga tggtggaaaa gcccttcaac
     1681 atttctgtta aagttcttcc aaagcccctg aatgccccaa acgtgattga cactggacat
     1741 aactttgctg tcatcaacat cagctctgag ccttactttg gggatggacc aatcaaatcc
     1801 aagaagcttc tatacaaacc cgttaatcac tatgaggctt ggcaacatat tcaagtgaca
     1861 aatgagattg ttacactcaa ctatttggaa cctcggacag aatatgaact ctgtgtgcaa
     1921 ctggtccgtc gtggagaggg tggggaaggg catcctggac ctgtgagacg cttcacaaca
     1981 gcttctatcg gactccctcc tccaagaggt ctaaatctcc tgcctaaaag tcagaccact
     2041 ctaaatttga cctggcaacc aatatttcca agctcggaag atgactttta tgttgaagtg
     2101 gagagaaggt ctgtgcaaaa aagtgatcag cagaatatta aagttccagg caacttgact
     2161 tcggtgctac ttaacaactt acatcccagg gagcagtacg tggtccgagc tagagtcaac
     2221 accaaggccc agggggaatg gagtgaagat ctcactgctt ggacccttag tgacattctt
     2281 cctcctcaac cagaaaacat caagatttcc aacattacac actcctcagc tgtgatttct
     2341 tggacaatat tggatggcta ttctatttct tctattacta tccgttacaa ggttcaaggc
     2401 aagaatgaag accagcacgt tgatgtgaag ataaagaatg ccaccatcac tcagtatcag
     2461 ctcaagggcc tagagcctga aacagcatac caggtggaca tttttgcaga gaacaacata
     2521 gggtcaagca acccagcctt ttctcatgaa ctggtgaccc tcccagaatc tcaagcacca
     2581 gcggacctcg gaggggggaa gatgctgctt atagccatcc ttggctctgc tggaatgacc
     2641 tgcctgactg tgctgttggc ctttctgatc atattgcaat tgaagagggc aaatgtgcaa
     2701 aggagaatgg cccaagcctt ccaaaacgtg agggaagaac cagctgtgca gttcaactca
     2761 gggactctgg ccctaaacag gaaggtcaaa aacaacccag atcctacaat ttatccagtg
     2821 cttgactgga atgacatcaa atttcaagat gtgattgggg agggcaattt tggccaagtt
     2881 cttaaggcgc gcatcaagaa ggatgggtta cggatggatg ctgccatcaa aagaatgaaa
     2941 gaatatgcct ccaaagatga tcacagggac tttgcaggag aactggaagt tctttgtaaa
     3001 cttggacacc atccaaacat catcaatctc ttaggagcat gtgaacatcg aggctacttg
     3061 tacctggcca ttgagtacgc gccccatgga aaccttctgg acttccttcg caagagccgt
     3121 gtgctggaga cggacccagc atttgccatt gccaatagca ccgcgtccac actgtcctcc
     3181 cagcagctcc ttcacttcgc tgccgacgtg gcccggggca tggactactt gagccaaaaa
     3241 cagtttatcc acagggatct ggctgccaga aacattttag ttggtgaaaa ctatgtggca
     3301 aaaatagcag attttggatt gtcccgaggt caagaggtgt atgtgaaaaa gacaatggga
     3361 aggctcccag tgcgctggat ggccatcgag tcactgaatt acagtgtgta cacaaccaac
     3421 agtgatgtat ggtcctatgg tgtgttacta tgggagattg ttagcttagg aggcacaccc
     3481 tactgcggga tgacttgtgc agaactctac gagaagctgc cccagggcta cagactggag
     3541 aagcccctga actgtgatga tgaggtgtat gatctaatga gacaatgctg gcgggagaag
     3601 ccttatgaga ggccatcatt tgcccagata ttggtgtcct taaacagaat gttagaggag
     3661 cgaaagacct acgtgaatac cacgctttat gagaagttta cttatgcagg aattgactgt
     3721 tctgctgaag aagcggccta ggacagaaca tctgtatacc ctctgtttcc ctttcactgg
     3781 catgggagac ccttgacacc tgctgagaaa acatgcctct gccaaaggat gtgatatata
     3841 agtgtacata tgtgctgtac acctgggacc ttcaccactg tagatcccat gcatggatct
     3901 atgtagtatg ctctgactct aataggactg tatatactgt tttaagaatg ggctgaaatc
     3961 agaatgcctg tttgtggttt catatgcaat aatatatttt tttaaaaatg tggacttcat
     4021 aggaaggcgt gagtacaatt agtataatgc ataactcatt gttgtcctag atattttgat
     4081 atttaccttt atgttgaatg ctattaaatg ttttcctgtg tcaaagtaaa atattgttaa
     4141 taaacctaac aatgaccctg atagtacagg ttaagtgaga gaactatatg aattctaaca
     4201 agtcataggt taatatttaa gacactgaaa aatctaagtg atataaatca gattcttctc
     4261 tctcaatttt atccctcacc tgtagcagcc agtcccgttt catttagtca tgtgaccact
     4321 ctgtcttgtg tttccacagc ctgcaagtca gtccaggatg ctaacatcta aaaatagact
     4381 taaatctcat tgcttacaag cctaagaatc tttagagaag tatacataag tttaggataa
     4441 aataatggga ttttcttttc ttttctctgg taatattgac ttgtatattt taagaaataa
     4501 cagaaagcct gggtgacatt tgggagacat gtgacattta tatattgaat taatatccct
     4561 acatgtattg cacattgtaa aaagttttag ttttgatgag ttgtgagttt accttgtata
     4621 ctgtaggcac actttgcact gatatatcat gagtgaataa atgtcttgcc tactcacgtc
     4681 tca
//
LOCUS       NM_000460               1918 bp    mRNA    linear   PRI 31-AUG-2023
DEFINITION  Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.
ACCESSION   NM_000460
VERSION     NM_000460.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1918)
  AUTHORS   Kwon SR, Kim MJ, Lee YE, Yun J, Jeong DJ, Park JH, Kwon S and Lee
            DS.
  TITLE     Novel THPO variant in hereditary thrombocytopenia: A potential
            candidate variant for predisposition to myeloid neoplasm
  JOURNAL   PLoS One 17 (12), e0271624 (2022)
   PUBMED   36534659
  REMARK    GeneRIF: Novel THPO variant in hereditary thrombocytopenia: A
            potential candidate variant for predisposition to myeloid neoplasm.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1918)
  AUTHORS   Dordelmann C, Telgmann R, Brand E, Hagedorn C, Schroer B, Hasenkamp
            S, Baumgart P, Kleine-Katthofer P, Paul M and Brand-Herrmann SM.
  TITLE     Functional and structural profiling of the human thrombopoietin gene
            promoter
  JOURNAL   J Biol Chem 283 (36), 24382-24391 (2008)
   PUBMED   18617523
  REMARK    GeneRIF: THPO transcription is cell line-dependently initiated at
            two alternative promoters, which we newly designated P1a and P1
REFERENCE   3  (bases 1 to 1918)
  AUTHORS   Ghilardi N, Wiestner A and Skoda RC.
  TITLE     Thrombopoietin production is inhibited by a translational mechanism
  JOURNAL   Blood 92 (11), 4023-4030 (1998)
   PUBMED   9834204
REFERENCE   4  (bases 1 to 1918)
  AUTHORS   Wiestner A, Schlemper RJ, van der Maas AP and Skoda RC.
  TITLE     An activating splice donor mutation in the thrombopoietin gene
            causes hereditary thrombocythaemia
  JOURNAL   Nat Genet 18 (1), 49-52 (1998)
   PUBMED   9425899
REFERENCE   5  (bases 1 to 1918)
  AUTHORS   Kamura T, Handa H, Hamasaki N and Kitajima S.
  TITLE     Characterization of the human thrombopoietin gene promoter. A
            possible role of an Ets transcription factor, E4TF1/GABP
  JOURNAL   J Biol Chem 272 (17), 11361-11368 (1997)
   PUBMED   9111044
REFERENCE   6  (bases 1 to 1918)
  AUTHORS   Gurney AL, Kuang WJ, Xie MH, Malloy BE, Eaton DL and de Sauvage FJ.
  TITLE     Genomic structure, chromosomal localization, and conserved
            alternative splice forms of thrombopoietin
  JOURNAL   Blood 85 (4), 981-988 (1995)
   PUBMED   7849319
REFERENCE   7  (bases 1 to 1918)
  AUTHORS   Chang MS, McNinch J, Basu R, Shutter J, Hsu RY, Perkins C, Mar V,
            Suggs S, Welcher A, Li L et al.
  TITLE     Cloning and characterization of the human megakaryocyte growth and
            development factor (MGDF) gene
  JOURNAL   J Biol Chem 270 (2), 511-514 (1995)
   PUBMED   7822271
REFERENCE   8  (bases 1 to 1918)
  AUTHORS   Foster DC, Sprecher CA, Grant FJ, Kramer JM, Kuijper JL, Holly RD,
            Whitmore TE, Heipel MD, Bell LA, Ching AF et al.
  TITLE     Human thrombopoietin: gene structure, cDNA sequence, expression, and
            chromosomal localization
  JOURNAL   Proc Natl Acad Sci U S A 91 (26), 13023-13027 (1994)
   PUBMED   7809166
REFERENCE   9  (bases 1 to 1918)
  AUTHORS   Sohma Y, Akahori H, Seki N, Hori T, Ogami K, Kato T, Shimada Y,
            Kawamura K and Miyazaki H.
  TITLE     Molecular cloning and chromosomal localization of the human
            thrombopoietin gene
  JOURNAL   FEBS Lett 353 (1), 57-61 (1994)
   PUBMED   7926023
REFERENCE   10  (bases 1 to 1918)
  AUTHORS   Bartley TD, Bogenberger J, Hunt P, Li YS, Lu HS, Martin F, Chang MS,
            Samal B, Nichol JL, Swift S et al.
  TITLE     Identification and cloning of a megakaryocyte growth and development
            factor that is a ligand for the cytokine receptor Mpl
  JOURNAL   Cell 77 (7), 1117-1124 (1994)
   PUBMED   8020099
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L33410.1, SRR5189664.158503.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000647395.1/ ENSP00000494504.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            regulatory uORF             :: PMID: 9834204
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC078797.20, L33410.1,
            BC143982.1, BC136338.1 and AA479058.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 9, 2018 this sequence version replaced NM_000460.3.
            Summary: Megakaryocytopoiesis is the cellular development process
            that leads to platelet production. The main functional protein
            encoded by this gene is a humoral growth factor that is necessary
            for megakaryocyte proliferation and maturation, as well as for
            thrombopoiesis. This protein is the ligand for MLP/C_MPL, the
            product of myeloproliferative leukemia virus oncogene. Mutations in
            this gene are the cause of thrombocythemia 1. Alternative promoter
            usage and differential splicing result in multiple transcript
            variants differing in the 5' UTR and/or coding region. Multiple AUG
            codons upstream of the main open reading frame (ORF) have been
            identified, and these upstream AUGs inhibit translation of the main
            ORF at different extent. [provided by RefSeq, Feb 2014].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1918
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.1"
     gene            1..1918
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="thrombopoietin"
                     /db_xref="GeneID:7066"
                     /db_xref="HGNC:HGNC:11795"
                     /db_xref="MIM:600044"
     misc_feature    20
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="alternative transcription initiation site
                     (PMID:9111044)"
     regulatory      22..138
                     /regulatory_class="uORF"
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:9834204]"
                     /note="this uORF is predicted to encode a 38 aa peptide
                     (PMID:9834204)"
     misc_feature    27
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="alternative transcription initiation site
                     (PMID:9111044)"
     misc_feature    30
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="alternative transcription initiation site
                     (PMID:9111044)"
     misc_feature    43
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="alternative transcription initiation site
                     (PMID:9111044)"
     misc_feature    44
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="alternative transcription initiation site
                     (PMID:9111044)"
     regulatory      61..138
                     /regulatory_class="uORF"
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:9834204]"
                     /note="this uORF is predicted to encode a 25 aa peptide
                     (PMID:9834204)"
     misc_feature    70
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="alternative transcription initiation site
                     (PMID:9111044)"
     regulatory      209..292
                     /regulatory_class="uORF"
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:9834204]"
                     /note="this uORF is predicted to encode a 27 aa peptide
                     (PMID:9834204)"
     CDS             279..1340
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; megakaryocyte stimulating factor; MPL ligand;
                     prepro-thrombopoietin; megakaryocyte colony-stimulating
                     factor; c-mpl ligand; myeloproliferative leukemia virus
                     oncogene ligand; megakaryocyte growth and development
                     factor; thrombopoietin nirs"
                     /codon_start=1
                     /product="thrombopoietin isoform 1 precursor"
                     /protein_id="NP_000451.1"
                     /db_xref="CCDS:CCDS3265.1"
                     /db_xref="GeneID:7066"
                     /db_xref="HGNC:HGNC:11795"
                     /db_xref="MIM:600044"
                     /translation="MELTELLLVVMLLLTARLTLSSPAPPACDLRVLSKLLRDSHVLHS
                     RLSQCPEVHPLPTPVLLPAVDFSLGEWKTQMEETKAQDILGAVTLLLEGVMAARGQLGP
                     TCLSSLLGQLSGQVRLLLGALQSLLGTQLPPQGRTTAHKDPNAIFLSFQHLLRGKVRFL
                     MLVGGSTLCVRRAPPTTAVPSRTSLVLTLNELPNRTSGLLETNFTASARTTGSGLLKWQ
                     QGFRAKIPGLLNQTSRSLDQIPGYLNRIHELLNGTRGLFPGPSRRTLGAPDISSGTSDT
                     GSLPPNLQPGYSPSPTHPPTGQYTLFPLPPTLPTPVVQLHPLLPDPSAPTPTPTSPLLN
                     TSYTHSQNLSQEG"
     sig_peptide     279..341
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     342..1337
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /product="Thrombopoietin. /id=PRO_0000008411"
                     /note="propagated from UniProtKB/Swiss-Prot (P40225.1)"
     misc_feature    342..344
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:8942648; propagated from
                     UniProtKB/Swiss-Prot (P40225.1); glycosylation site"
     misc_feature    450..452
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:8942648; propagated from
                     UniProtKB/Swiss-Prot (P40225.1); glycosylation site"
     misc_feature    669..671
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:8942648; propagated from
                     UniProtKB/Swiss-Prot (P40225.1); glycosylation site"
     misc_feature    813..815
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:8942648; propagated from
                     UniProtKB/Swiss-Prot (P40225.1); glycosylation site"
     misc_feature    816..818
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:8942648; propagated from
                     UniProtKB/Swiss-Prot (P40225.1); glycosylation site"
     misc_feature    828..830
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:8942648; propagated from
                     UniProtKB/Swiss-Prot (P40225.1); glycosylation site"
     misc_feature    867..869
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:8942648; propagated from
                     UniProtKB/Swiss-Prot (P40225.1); glycosylation site"
     misc_feature    894..896
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:8942648; propagated from
                     UniProtKB/Swiss-Prot (P40225.1); glycosylation site"
     misc_feature    915..917
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:8942648; propagated from
                     UniProtKB/Swiss-Prot (P40225.1); glycosylation site"
     misc_feature    978..980
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:8942648; propagated from
                     UniProtKB/Swiss-Prot (P40225.1); glycosylation site"
     misc_feature    1041..1043
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:8942648; propagated from
                     UniProtKB/Swiss-Prot (P40225.1); glycosylation site"
     misc_feature    1047..1337
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="propagated from UniProtKB/Swiss-Prot (P40225.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1071..1073
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:8942648; propagated from
                     UniProtKB/Swiss-Prot (P40225.1); glycosylation site"
     misc_feature    1296..1298
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P40225.1); glycosylation site"
     misc_feature    1320..1322
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P40225.1); glycosylation site"
     regulatory      1507..1512
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="hexamer: TATAAA"
     polyA_site      1525
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="major polyA site"
     polyA_site      1563
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
     polyA_site      1600
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
     regulatory      1882..1887
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
                     /note="hexamer: AATAAA"
     polyA_site      1918
                     /gene="THPO"
                     /gene_synonym="CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1;
                     TPO"
ORIGIN
        1 agaagtggcc caggcaggcg tatgacctgc tgctgtggag gggctgtgcc ccaccgccac
       61 atgtcttcct acccatctgc tccccagagg gctgcctgct gtgcacttgg gtcctggagc
      121 ccttctccac ccggatagat tcttcaccct tggcccgcct ttgccccacc ctactctgcc
      181 cagaagtgca agagcctaag ccgcctccat ggccccagga aggattcagg ggagaggccc
      241 caaacaggga gccacgccag ccagacaccc cggccagaat ggagctgact gaattgctcc
      301 tcgtggtcat gcttctccta actgcaaggc taacgctgtc cagcccggct cctcctgctt
      361 gtgacctccg agtcctcagt aaactgcttc gtgactccca tgtccttcac agcagactga
      421 gccagtgccc agaggttcac cctttgccta cacctgtcct gctgcctgct gtggacttta
      481 gcttgggaga atggaaaacc cagatggagg agaccaaggc acaggacatt ctgggagcag
      541 tgacccttct gctggaggga gtgatggcag cacggggaca actgggaccc acttgcctct
      601 catccctcct ggggcagctt tctggacagg tccgtctcct ccttggggcc ctgcagagcc
      661 tccttggaac ccagcttcct ccacagggca ggaccacagc tcacaaggat cccaatgcca
      721 tcttcctgag cttccaacac ctgctccgag gaaaggtgcg tttcctgatg cttgtaggag
      781 ggtccaccct ctgcgtcagg cgggccccac ccaccacagc tgtccccagc agaacctctc
      841 tagtcctcac actgaacgag ctcccaaaca ggacttctgg attgttggag acaaacttca
      901 ctgcctcagc cagaactact ggctctgggc ttctgaagtg gcagcaggga ttcagagcca
      961 agattcctgg tctgctgaac caaacctcca ggtccctgga ccaaatcccc ggatacctga
     1021 acaggataca cgaactcttg aatggaactc gtggactctt tcctggaccc tcacgcagga
     1081 ccctaggagc cccggacatt tcctcaggaa catcagacac aggctccctg ccacccaacc
     1141 tccagcctgg atattctcct tccccaaccc atcctcctac tggacagtat acgctcttcc
     1201 ctcttccacc caccttgccc acccctgtgg tccagctcca ccccctgctt cctgaccctt
     1261 ctgctccaac gcccacccct accagccctc ttctaaacac atcctacacc cactcccaga
     1321 atctgtctca ggaagggtaa ggttctcaga cactgccgac atcagcattg tctcgtgtac
     1381 agctcccttc cctgcagggc gcccctggga gacaactgga caagatttcc tactttctcc
     1441 tgaaacccaa agccctggta aaagggatac acaggactga aaagggaatc atttttcact
     1501 gtacattata aaccttcaga agctattttt ttaagctatc agcaatactc atcagagcag
     1561 ctagctcttt ggtctatttt ctgcagaaat ttgcaactca ctgattctct acatgctctt
     1621 tttctgtgat aactctgcaa aggcctgggc tggcctggca gttgaacaga gggagagact
     1681 aaccttgagt cagaaaacag agaaagggta atttcctttg cttcaaattc aaggccttcc
     1741 aacgccccca tcccctttac tatcattctc agtgggactc tgatcccata ttcttaacag
     1801 atctttactc ttgagaaatg aataagcttt ctctcagaaa tgctgtccct atacactaga
     1861 caaaactgag cctgtataag gaataaatgg gagcgccgaa aagctcccta aaaagcaa
//
LOCUS       NM_000463               2361 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens UDP glucuronosyltransferase family 1 member A1
            (UGT1A1), mRNA.
ACCESSION   NM_000463
VERSION     NM_000463.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2361)
  AUTHORS   Arlabosse T, Materna M, Riccio O, Schnider C, Angelini F, Perreau M,
            Rochat I, Superti-Furga A, Campos-Xavier B, Heritier S, Pereira A,
            Deswarte C, Levy R, Distefano M, Bustamante J, Roelens M, Borie R,
            Le Brun M, Crestani B, Casanova JL, Puel A, Hofer M, Fieschi C,
            Theodoropoulou K, Beziat V and Candotti F.
  TITLE     New Dominant-Negative IL6ST Variants Expand the Immunological and
            Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome
  JOURNAL   J Clin Immunol 43 (7), 1566-1580 (2023)
   PUBMED   37273120
  REMARK    GeneRIF: New Dominant-Negative IL6ST Variants Expand the
            Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE
            Syndrome. Erratum:[J Clin Immunol. 2023 Jun 21;:. PMID: 37341861]
REFERENCE   2  (bases 1 to 2361)
  AUTHORS   Koprululu Kucuk G, Guney AI, Sunbul M, Guctekin T, Koc G and Kirac
            D.
  TITLE     Il-6 and UGT1A1 variations may related to furosemide resistance in
            heart failure patients
  JOURNAL   IUBMB Life 75 (10), 830-843 (2023)
   PUBMED   37260062
  REMARK    GeneRIF: Il-6 and UGT1A1 variations may related to furosemide
            resistance in heart failure patients.
REFERENCE   3  (bases 1 to 2361)
  AUTHORS   D'Antiga L, Beuers U, Ronzitti G, Brunetti-Pierri N, Baumann U, Di
            Giorgio A, Aronson S, Hubert A, Romano R, Junge N, Bosma P,
            Bortolussi G, Muro AF, Soumoudronga RF, Veron P, Collaud F,
            Knuchel-Legendre N, Labrune P and Mingozzi F.
  TITLE     Gene Therapy in Patients with the Crigler-Najjar Syndrome
  JOURNAL   N Engl J Med 389 (7), 620-631 (2023)
   PUBMED   37585628
  REMARK    GeneRIF: Gene Therapy in Patients with the Crigler-Najjar Syndrome.
REFERENCE   4  (bases 1 to 2361)
  AUTHORS   Jiraskova A, Skrha J and Vitek L.
  TITLE     Association of Low Serum Bilirubin Concentrations and Promoter
            Variations in the UGT1A1 and HMOX1 Genes with Type 2 Diabetes
            Mellitus in the Czech Population
  JOURNAL   Int J Mol Sci 24 (13), 10614 (2023)
   PUBMED   37445792
  REMARK    GeneRIF: Association of Low Serum Bilirubin Concentrations and
            Promoter Variations in the UGT1A1 and HMOX1 Genes with Type 2
            Diabetes Mellitus in the Czech Population. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 2361)
  AUTHORS   Zhang BF, Fang J, Zhang ZQ, Ao XL, Xia L, Wu HC, Zhang SA, Wu ZX and
            Li DL.
  TITLE     [Factors influencing bilirubin elevation and its correlation with
            UGT1A1 gene polymorphism in the early postoperative period of
            transjugular intrahepatic portosystemic shunt]
  JOURNAL   Zhonghua Gan Zang Bing Za Zhi 31 (5), 524-531 (2023)
   PUBMED   37365030
  REMARK    GeneRIF: [Factors influencing bilirubin elevation and its
            correlation with UGT1A1 gene polymorphism in the early postoperative
            period of transjugular intrahepatic portosystemic shunt].
REFERENCE   6  (bases 1 to 2361)
  AUTHORS   Ritter JK, Yeatman MT, Ferreira P and Owens IS.
  TITLE     Identification of a genetic alteration in the code for bilirubin
            UDP-glucuronosyltransferase in the UGT1 gene complex of a
            Crigler-Najjar type I patient
  JOURNAL   J Clin Invest 90 (1), 150-155 (1992)
   PUBMED   1634606
REFERENCE   7  (bases 1 to 2361)
  AUTHORS   Bosma PJ, Chowdhury JR, Huang TJ, Lahiri P, Elferink RP, Van Es HH,
            Lederstein M, Whitington PF, Jansen PL and Chowdhury NR.
  TITLE     Mechanisms of inherited deficiencies of multiple
            UDP-glucuronosyltransferase isoforms in two patients with
            Crigler-Najjar syndrome, type I
  JOURNAL   FASEB J 6 (10), 2859-2863 (1992)
   PUBMED   1634050
REFERENCE   8  (bases 1 to 2361)
  AUTHORS   Ritter JK, Chen F, Sheen YY, Tran HM, Kimura S, Yeatman MT and Owens
            IS.
  TITLE     A novel complex locus UGT1 encodes human bilirubin, phenol, and
            other UDP-glucuronosyltransferase isozymes with identical carboxyl
            termini
  JOURNAL   J Biol Chem 267 (5), 3257-3261 (1992)
   PUBMED   1339448
REFERENCE   9  (bases 1 to 2361)
  AUTHORS   Ritter JK, Crawford JM and Owens IS.
  TITLE     Cloning of two human liver bilirubin UDP-glucuronosyltransferase
            cDNAs with expression in COS-1 cells
  JOURNAL   J Biol Chem 266 (2), 1043-1047 (1991)
   PUBMED   1898728
REFERENCE   10  (bases 1 to 2361)
  AUTHORS   Harding D, Jeremiah SJ, Povey S and Burchell B.
  TITLE     Chromosomal mapping of a human phenol UDP-glucuronosyltransferase,
            GNT1
  JOURNAL   Ann Hum Genet 54 (1), 17-21 (1990)
   PUBMED   2108603
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY435136.1, JQ699644.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000305208.10/ ENSP00000304845.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006985.2, M57899.1 and
            AY435136.1.
            On Aug 31, 2019 this sequence version replaced NM_000463.2.
            Summary: This gene encodes a UDP-glucuronosyltransferase, an enzyme
            of the glucuronidation pathway that transforms small lipophilic
            molecules, such as steroids, bilirubin, hormones, and drugs, into
            water-soluble, excretable metabolites. This gene is part of a
            complex locus that encodes several UDP-glucuronosyltransferases.
            The locus includes thirteen unique alternate first exons followed
            by four common exons. Four of the alternate first exons are
            considered pseudogenes. Each of the remaining nine 5' exons may be
            spliced to the four common exons, resulting in nine proteins with
            different N-termini and identical C-termini. Each first exon
            encodes the substrate binding site, and is regulated by its own
            promoter. The preferred substrate of this enzyme is bilirubin,
            although it also has moderate activity with simple phenols,
            flavones, and C18 steroids. Mutations in this gene result in
            Crigler-Najjar syndromes types I and II and in Gilbert syndrome.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2361
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..2361
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /note="UDP glucuronosyltransferase family 1 member A1"
                     /db_xref="GeneID:54658"
                     /db_xref="HGNC:HGNC:12530"
                     /db_xref="MIM:191740"
     CDS             19..1620
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /EC_number="2.4.1.17"
                     /note="UDP glycosyltransferase 1 family, polypeptide A1;
                     bilirubin UDP-glucuronosyltranserase; bilirubin
                     UDP-glucuronosyltransferase isozyme 1; bilirubin
                     UDP-glucuronosyltransferase 1-1; UGT-1A; UGT1*1;
                     UDP-glucuronosyltransferase 1A; UGT1.1; UGT1-01;
                     UDP-glucuronosyltransferase 1A1; bilirubin-specific UDPGT
                     isozyme 1; UDP-glucuronosyltransferase 1-A; UDP
                     glucuronosyltransferase 1 family, polypeptide A1"
                     /codon_start=1
                     /product="UDP-glucuronosyltransferase 1A1 precursor"
                     /protein_id="NP_000454.1"
                     /db_xref="CCDS:CCDS2510.1"
                     /db_xref="GeneID:54658"
                     /db_xref="HGNC:HGNC:12530"
                     /db_xref="MIM:191740"
                     /translation="MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLG
                     AIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFENDS
                     FLQRVIKTYKKIKKDSAMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIVAQY
                     LSLPTVFFLHALPCSLEFEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFL
                     CDVVYSPYATLASEFLQREVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCL
                     HQNPLSQEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGT
                     RPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMD
                     NAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLA
                     VFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKC
                     LGKKGRVKKAHKSKTH"
     sig_peptide     19..93
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
     mat_peptide     94..1617
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /product="UDP-glucuronosyltransferase 1A1"
     misc_feature    322..324
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P22309.1); glycosylation site"
     misc_feature    901..903
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P22309.1); glycosylation site"
     misc_feature    1057..1059
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P22309.1); glycosylation site"
     misc_feature    1489..1539
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P22309.1);
                     transmembrane region"
     regulatory      2341..2346
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /note="hexamer: AATAAA"
     polyA_site      2361
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /note="major polyA site"
ORIGIN
        1 ggcaggagca aaggcgccat ggctgtggag tcccagggcg gacgcccact tgtcctgggc
       61 ctgctgctgt gtgtgctggg cccagtggtg tcccatgctg ggaagatact gttgatccca
      121 gtggatggca gccactggct gagcatgctt ggggccatcc agcagctgca gcagagggga
      181 catgaaatag ttgtcctagc acctgacgcc tcgttgtaca tcagagacgg agcattttac
      241 accttgaaga cgtaccctgt gccattccaa agggaggatg tgaaagagtc ttttgttagt
      301 ctcgggcata atgtttttga gaatgattct ttcctgcagc gtgtgatcaa aacatacaag
      361 aaaataaaaa aggactctgc tatgcttttg tctggctgtt cccacttact gcacaacaag
      421 gagctcatgg cctccctggc agaaagcagc tttgatgtca tgctgacgga ccctttcctt
      481 ccttgcagcc ccatcgtggc ccagtacctg tctctgccca ctgtattctt cttgcatgca
      541 ctgccatgca gcctggaatt tgaggctacc cagtgcccca acccattctc ctacgtgccc
      601 aggcctctct cctctcattc agatcacatg accttcctgc agcgggtgaa gaacatgctc
      661 attgcctttt cacagaactt tctgtgcgac gtggtttatt ccccgtatgc aacccttgcc
      721 tcagaattcc ttcagagaga ggtgactgtc caggacctat tgagctctgc atctgtctgg
      781 ctgtttagaa gtgactttgt gaaggattac cctaggccca tcatgcccaa tatggttttt
      841 gttggtggaa tcaactgcct tcaccaaaat ccactatccc aggaatttga agcctacatt
      901 aatgcttctg gagaacatgg aattgtggtt ttctctttgg gatcaatggt ctcagaaatt
      961 ccagagaaga aagctatggc aattgctgat gctttgggca aaatccctca gacagtcctg
     1021 tggcggtaca ctggaacccg accatcgaat cttgcgaaca acacgatact tgttaagtgg
     1081 ctaccccaaa acgatctgct tggtcacccg atgacccgtg cctttatcac ccatgctggt
     1141 tcccatggtg tttatgaaag catatgcaat ggcgttccca tggtgatgat gcccttgttt
     1201 ggtgatcaga tggacaatgc aaagcgcatg gagactaagg gagctggagt gaccctgaat
     1261 gttctggaaa tgacttctga agatttagaa aatgctctaa aagcagtcat caatgacaaa
     1321 agttacaagg agaacatcat gcgcctctcc agccttcaca aggaccgccc ggtggagccg
     1381 ctggacctgg ccgtgttctg ggtggagttt gtgatgaggc acaagggcgc gccacacctg
     1441 cgccccgcag cccacgacct cacctggtac cagtaccatt ccttggacgt gattggtttc
     1501 ctcttggccg tcgtgctgac agtggccttc atcaccttta aatgttgtgc ttatggctac
     1561 cggaaatgct tggggaaaaa agggcgagtt aagaaagccc acaaatccaa gacccattga
     1621 gaagtgggtg ggaaataagg taaaattttg aaccattccc tagtcatttc caaacttgaa
     1681 aacagaatca gtgttaaatt cattttattc ttattaagga aatactttgc ataaattaat
     1741 cagccccaga gtgctttaaa aaattctctt aaataaaaat aatagactcg ctagtcagta
     1801 aagatatttg aatatgtatc gtgccccctc tggtgtcttt gatcaggatg acatgtgcca
     1861 tttttcagag gacgtgcaga caggctggca ttctagatta cttttcttac tctgaaacat
     1921 ggcctgtttg ggagtgcggg attcaaaggt ggtcccacgg ctgcccctac tgcaaatggc
     1981 agttttaatc ttatcttttg gcttctgcag atggttgcaa ttgatcctta accaataatg
     2041 gtcagtcctc atctctgtcg tgcttcatag gtgccacctt gtgtgtttaa agaagggaag
     2101 ctttgtacct ttagagtgta ggtgaaatga atgaatggct tggagtgcac tgagaacagc
     2161 atatgatttc ttgctttggg gaaaaagaat gatgctatga aattggtggg tggtgtattt
     2221 gagaagataa tcattgctta tgtcaaatgg agctgaattt gataaaaacc caaaatacag
     2281 ctatgaagtg ctgggcaagt ttactttttt tctgatgttt cctacaacta aaaataaatt
     2341 aataaattta tataaattct a
//
LOCUS       NM_000465               5478 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens BRCA1 associated RING domain 1 (BARD1), transcript
            variant 1, mRNA.
ACCESSION   NM_000465
VERSION     NM_000465.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5478)
  AUTHORS   Mukhana L, Aissa AA, Ahmed AAM, Saakyan SV, Tsygankov AY,
            Blagonravov ML and Azova MM.
  TITLE     Association of BARD1 and BRIP1 Gene Polymorphisms with the Risk of
            Uveal Melanoma
  JOURNAL   Bull Exp Biol Med 175 (3), 399-403 (2023)
   PUBMED   37561379
  REMARK    GeneRIF: Association of BARD1 and BRIP1 Gene Polymorphisms with the
            Risk of Uveal Melanoma.
REFERENCE   2  (bases 1 to 5478)
  AUTHORS   Lee A, Mavaddat N, Cunningham A, Carver T, Ficorella L, Archer S,
            Walter FM, Tischkowitz M, Roberts J, Usher-Smith J, Simard J,
            Schmidt MK, Devilee P, Zadnik V, Jurgens H, Mouret-Fourme E, De Pauw
            A, Rookus M, Mooij TM, Pharoah PP, Easton DF and Antoniou AC.
  TITLE     Enhancing the BOADICEA cancer risk prediction model to incorporate
            new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and
            cancer incidence
  JOURNAL   J Med Genet 59 (12), 1206-1218 (2022)
   PUBMED   36162851
  REMARK    GeneRIF: Enhancing the BOADICEA cancer risk prediction model to
            incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour
            pathology and cancer incidence.
REFERENCE   3  (bases 1 to 5478)
  AUTHORS   Hawsawi YM, Shams A, Theyab A, Abdali WA, Hussien NA, Alatwi HE,
            Alzahrani OR, Oyouni AAA, Babalghith AO and Alreshidi M.
  TITLE     BARD1 mystery: tumor suppressors are cancer susceptibility genes
  JOURNAL   BMC Cancer 22 (1), 599 (2022)
   PUBMED   35650591
  REMARK    GeneRIF: BARD1 mystery: tumor suppressors are cancer susceptibility
            genes. Review article Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5478)
  AUTHORS   Benito-Sanchez B, Barroso A, Fernandez V, Mercadillo F, Nunez-Torres
            R, Pita G, Pombo L, Morales-Chamorro R, Cano-Cano JM, Urioste M,
            Gonzalez-Neira A and Osorio A.
  TITLE     Apparent regional differences in the spectrum of BARD1 pathogenic
            variants in Spanish population and importance of copy number
            variants
  JOURNAL   Sci Rep 12 (1), 8547 (2022)
   PUBMED   35595798
  REMARK    GeneRIF: Apparent regional differences in the spectrum of BARD1
            pathogenic variants in Spanish population and importance of copy
            number variants. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5478)
  AUTHORS   Maurer LM, Daley JD, Mukherjee E, Venier RE, Julian CM, Bailey NG,
            Jacobs MF, Kumar-Sinha C, Raphael H, Periyapatna N, Weiss K, Janeway
            KA, Mody R, Lucas PC, McAllister-Lucas LM and Bailey KM.
  TITLE     BRCA1-associated RING domain-1 (BARD1) loss and GBP1 expression
            enhance sensitivity to DNA damage in Ewing sarcoma
  JOURNAL   Cancer Res Commun 2 (4), 220-232 (2022)
   PUBMED   36187937
  REMARK    GeneRIF: BRCA1-associated RING domain-1 (BARD1) loss and GBP1
            expression enhance sensitivity to DNA damage in Ewing sarcoma.
REFERENCE   6  (bases 1 to 5478)
  AUTHORS   Meza JE, Brzovic PS, King MC and Klevit RE.
  TITLE     Mapping the functional domains of BRCA1. Interaction of the ring
            finger domains of BRCA1 and BARD1
  JOURNAL   J Biol Chem 274 (9), 5659-5665 (1999)
   PUBMED   10026184
REFERENCE   7  (bases 1 to 5478)
  AUTHORS   Ayi TC, Tsan JT, Hwang LY, Bowcock AM and Baer R.
  TITLE     Conservation of function and primary structure in the
            BRCA1-associated RING domain (BARD1) protein
  JOURNAL   Oncogene 17 (16), 2143-2148 (1998)
   PUBMED   9798686
REFERENCE   8  (bases 1 to 5478)
  AUTHORS   Thai TH, Du F, Tsan JT, Jin Y, Phung A, Spillman MA, Massa HF,
            Muller CY, Ashfaq R, Mathis JM, Miller DS, Trask BJ, Baer R and
            Bowcock AM.
  TITLE     Mutations in the BRCA1-associated RING domain (BARD1) gene in
            primary breast, ovarian and uterine cancers
  JOURNAL   Hum Mol Genet 7 (2), 195-202 (1998)
   PUBMED   9425226
REFERENCE   9  (bases 1 to 5478)
  AUTHORS   Jin Y, Xu XL, Yang MC, Wei F, Ayi TC, Bowcock AM and Baer R.
  TITLE     Cell cycle-dependent colocalization of BARD1 and BRCA1 proteins in
            discrete nuclear domains
  JOURNAL   Proc Natl Acad Sci U S A 94 (22), 12075-12080 (1997)
   PUBMED   9342365
REFERENCE   10  (bases 1 to 5478)
  AUTHORS   Wu LC, Wang ZW, Tsan JT, Spillman MA, Phung A, Xu XL, Yang MC, Hwang
            LY, Bowcock AM and Baer R.
  TITLE     Identification of a RING protein that can interact in vivo with the
            BRCA1 gene product
  JOURNAL   Nat Genet 14 (4), 430-440 (1996)
   PUBMED   8944023
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2752190.1,
            SRR14038196.2213370.1 [ECO:0000332]
            RNAseq introns :: mixed/partial sample support SAMEA1965299,
            SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000260947.9/ ENSP00000260947.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB088853.1, BC126428.1,
            BC126426.1, BX098964.1, AC016708.11 and BU753556.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000465.3.
            Summary: This gene encodes a protein which interacts with the
            N-terminal region of BRCA1. In addition to its ability to bind
            BRCA1 in vivo and in vitro, it shares homology with the 2 most
            conserved regions of BRCA1: the N-terminal RING motif and the
            C-terminal BRCT domain. The RING motif is a cysteine-rich sequence
            found in a variety of proteins that regulate cell growth, including
            the products of tumor suppressor genes and dominant protooncogenes.
            This protein also contains 3 tandem ankyrin repeats. The
            BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid
            substitutions in BRCA1, implying that the formation of a stable
            complex between these proteins may be an essential aspect of BRCA1
            tumor suppression. This protein may be the target of oncogenic
            mutations in breast or ovarian cancer. Multiple alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Sep 2013].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5478
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..5478
                     /gene="BARD1"
                     /note="BRCA1 associated RING domain 1"
                     /db_xref="GeneID:580"
                     /db_xref="HGNC:HGNC:952"
                     /db_xref="MIM:601593"
     CDS             115..2448
                     /gene="BARD1"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 1;
                     BRCA1-associated RING domain protein 1; BRCA1-associated
                     RING domain gene 1; RING-type E3 ubiquitin transferase
                     BARD1"
                     /codon_start=1
                     /product="BRCA1-associated RING domain protein 1 isoform 1"
                     /protein_id="NP_000456.2"
                     /db_xref="CCDS:CCDS2397.1"
                     /db_xref="GeneID:580"
                     /db_xref="HGNC:HGNC:952"
                     /db_xref="MIM:601593"
                     /translation="MPDNRQPRNRQPRIRSGNEPRSAPAMEPDGRGAWAHSRAALDRLE
                     KLLRCSRCTNILREPVCLGGCEHIFCSNCVSDCIGTGCPVCYTPAWIQDLKINRQLDSM
                     IQLCSKLRNLLHDNELSDLKEDKPRKSLFNDAGNKKNSIKMWFSPRSKKVRYVVSKASV
                     QTQPAIKKDASAQQDSYEFVSPSPPADVSERAKKASARSGKKQKKKTLAEINQKWNLEA
                     EKEDGEFDSKEESKQKLVSFCSQPSVISSPQINGEIDLLASGSLTESECFGSLTEVSLP
                     LAEQIESPDTKSRNEVVTPEKVCKNYLTSKKSLPLENNGKRGHHNRLSSPISKRCRTSI
                     LSTSGDFVKQTVPSENIPLPECSSPPSCKRKVGGTSGRKNSNMSDEFISLSPGTPPSTL
                     SSSSYRRVMSSPSAMKLLPNMAVKRNHRGETLLHIASIKGDIPSVEYLLQNGSDPNVKD
                     HAGWTPLHEACNHGHLKVVELLLQHKALVNTTGYQNDSPLHDAAKNGHVDIVKLLLSYG
                     ASRNAVNIFGLRPVDYTDDESMKSLLLLPEKNESSSASHCSVMNTGQRRDGPLVLIGSG
                     LSSEQQKMLSELAVILKAKKYTEFDSTVTHVVVPGDAVQSTLKCMLGILNGCWILKFEW
                     VKACLRRKVCEQEEKYEIPEGPRRSRLNREQLLPKLFDGCYFYLWGTFKHHPKDNLIKL
                     VTAGGGQILSRKPKPDSDVTQTINTVAYHARPDSDQRFCTQYIIYEDLCNYHPERVRQG
                     KVWKAPSSWFIDCVMSFELLPLDS"
     misc_feature    115..210
                     /gene="BARD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99728.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    190..471
                     /gene="BARD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99728.2);
                     Region: Interaction with BRCA1"
     misc_feature    613..747
                     /gene="BARD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99728.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    670..672
                     /gene="BARD1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99728.2); phosphorylation site"
     misc_feature    1009..1011
                     /gene="BARD1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99728.2); phosphorylation site"
     misc_feature    1180..1326
                     /gene="BARD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99728.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1285..1287
                     /gene="BARD1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q99728.2); phosphorylation site"
     misc_feature    1294..1296
                     /gene="BARD1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q99728.2); phosphorylation site"
     misc_feature    1393..1491
                     /gene="BARD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99728.2);
                     Region: ANK 1"
     misc_feature    1492..1590
                     /gene="BARD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99728.2);
                     Region: ANK 2"
     misc_feature    1591..1689
                     /gene="BARD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99728.2);
                     Region: ANK 3"
     misc_feature    1690..1752
                     /gene="BARD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99728.2);
                     Region: ANK 4, degenerate"
     misc_feature    1774..1788
                     /gene="BARD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99728.2);
                     Region: Flexible linker"
     regulatory      4471..4476
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BARD1"
                     /note="hexamer: ATTAAA"
     polyA_site      4494
                     /gene="BARD1"
                     /note="major polyA site"
     regulatory      4622..4627
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BARD1"
                     /note="hexamer: AATAAA"
     polyA_site      4644
                     /gene="BARD1"
ORIGIN
        1 agacgcggga agagcttggc cggtttcgag tcgctggcct gcagcttccc tgtggtttcc
       61 cgaggcttcc ttgcttcccg ctctgcgagg agcctttcat ccgaaggcgg gacgatgccg
      121 gataatcggc agccgaggaa ccggcagccg aggatccgct ccgggaacga gcctcgttcc
      181 gcgcccgcca tggaaccgga tggtcgcggt gcctgggccc acagtcgcgc cgcgctcgac
      241 cgcctggaga agctgctgcg ctgctcgcgt tgtactaaca ttctgagaga gcctgtgtgt
      301 ttaggaggat gtgagcacat cttctgtagt aattgtgtaa gtgactgcat tggaactgga
      361 tgtccagtgt gttacacccc ggcctggata caagacttga agataaatag acaactggac
      421 agcatgattc aactttgtag taagcttcga aatttgctac atgacaatga gctgtcagat
      481 ttgaaagaag ataaacctag gaaaagtttg tttaatgatg caggaaacaa gaagaattca
      541 attaaaatgt ggtttagccc tcgaagtaag aaagtcagat atgttgtgag taaagcttca
      601 gtgcaaaccc agcctgcaat aaaaaaagat gcaagtgctc agcaagactc atatgaattt
      661 gtttccccaa gtcctcctgc agatgtttct gagagggcta aaaaggcttc tgcaagatct
      721 ggaaaaaagc aaaaaaagaa aactttagct gaaatcaacc aaaaatggaa tttagaggca
      781 gaaaaagaag atggtgaatt tgactccaaa gaggaatcta agcaaaagct ggtatccttc
      841 tgtagccaac catctgttat ctccagtcct cagataaatg gtgaaataga cttactagca
      901 agtggctcct tgacagaatc tgaatgtttt ggaagtttaa ctgaagtctc tttaccattg
      961 gctgagcaaa tagagtctcc agacactaag agcaggaatg aagtagtgac tcctgagaag
     1021 gtctgcaaaa attatcttac atctaagaaa tctttgccat tagaaaataa tggaaaacgt
     1081 ggccatcaca atagactttc cagtcccatt tctaagagat gtagaaccag cattctgagc
     1141 accagtggag attttgttaa gcaaacggtg ccctcagaaa atataccatt gcctgaatgt
     1201 tcttcaccac cttcatgcaa acgtaaagtt ggtggtacat cagggaggaa aaacagtaac
     1261 atgtccgatg aattcattag tctttcacca ggtacaccac cttctacatt aagtagttca
     1321 agttacaggc gagtgatgtc tagtccctca gcaatgaagc tgttgcccaa tatggctgtg
     1381 aaaagaaatc atagaggaga gactttgctc catattgctt ctattaaggg cgacatacct
     1441 tctgttgaat accttttaca aaatggaagt gatccaaatg ttaaagacca tgctggatgg
     1501 acaccattgc atgaagcttg caatcatggg cacctgaagg tagtggaatt attgctccag
     1561 cataaggcat tggtgaacac caccgggtat caaaatgact caccacttca cgatgcagcc
     1621 aagaatgggc atgtggatat agtcaagctg ttactttcct atggagcctc cagaaatgct
     1681 gttaatatat ttggtctgcg gcctgtcgat tatacagatg atgaaagtat gaaatcgcta
     1741 ttgctgctac cagagaagaa tgaatcatcc tcagctagcc actgctcagt aatgaacact
     1801 gggcagcgta gggatggacc tcttgtactt ataggcagtg ggctgtcttc agaacaacag
     1861 aaaatgctca gtgagcttgc agtaattctt aaggctaaaa aatatactga gtttgacagt
     1921 acagtaactc atgttgttgt tcctggtgat gcagttcaaa gtaccttgaa gtgtatgctt
     1981 gggattctca atggatgctg gattctaaaa tttgaatggg taaaagcatg tctacgaaga
     2041 aaagtatgtg aacaggaaga aaagtatgaa attcctgaag gtccacgcag aagcaggctc
     2101 aacagagaac agctgttgcc aaagctgttt gatggatgct acttctattt gtggggaacc
     2161 ttcaaacacc atccaaagga caaccttatt aagctcgtca ctgcaggtgg gggccagatc
     2221 ctcagtagaa agcccaagcc agacagtgac gtgactcaga ccatcaatac agtcgcatac
     2281 catgcgagac ccgattctga tcagcgcttc tgcacacagt atatcatcta tgaagatttg
     2341 tgtaattatc acccagagag ggttcggcag ggcaaagtct ggaaggctcc ttcgagctgg
     2401 tttatagact gtgtgatgtc ctttgagttg cttcctcttg acagctgaat attataccag
     2461 atgaacattt caaattgaat ttgcacggtt tgtgagagcc cagtcattgt actgttttta
     2521 atgttcacat ttttacaaat aggtagagtc attcatattt gtctttgaat caaaaaaaaa
     2581 aaaaaagtct aatgccagat taggaattca tgttatgttt accatttaga agctgggatt
     2641 gcttttaaag gtttttcttt ttaaaattgg catgtttttg atttatcatg tctttctatt
     2701 cagattattg ggtatcaaag attaatgagg acaccagaat cttggttaaa tagacaagtg
     2761 gtatcattac tgtttgagtc ttttaatatt ctccatacct gccaccagtg aaaaaacttg
     2821 cctttttttt tttttttttt ttagtaaaca gaatattatc aaacaattta ttttggcttt
     2881 attgaaaaaa gagtatttgg tctaaatgtg ccaccatagg tgttaaattc tcctatctgc
     2941 aattgtcttt atcctatatt gtgttcattt cttttcttaa taatttactt tgttgtgtgt
     3001 ttctacactt tcatccctgt tttttatctt gtatatcatc aggaaattgt gatttaatca
     3061 ttaacattgg tttttttgtg tgtgtggtaa aaatcaacac taggctcatg gtacatattt
     3121 ttattctgta catttgcttg taactatcaa tttgtaactc tgtttatcta ctacatgtgt
     3181 atatatactt agagcatttt ctctaacaca ttttaatgtt agtatttttt aaaaggtctg
     3241 accagtctag caaattgtca gtccaacgtc attactttaa attaagaagc agtcttcttc
     3301 tggtaaacct tgttggtatt tgtaaaataa ttttgaaggt cttaatttct tcctttgtaa
     3361 aaggaaaagg ttttttttaa agtttttagg ttggcatgga ggcagaagtt ggtgattact
     3421 tgatttacaa cagatttttt ccagatcata caaaaggcca tacagtaagt atagaagtag
     3481 gtatggggag ggcttactaa tatcaaatag gcaaggcctt agtgagtggg caggatacca
     3541 cctgagagtg gccagatgtg gggaggttac tctgctctgg gtgctctcat tcatgaatcg
     3601 acaaggatac attagattat tttgaaacat ttttttaaga agcagaattc tttaataatt
     3661 ccttcctaga cattgaatat acttataaaa ttaaagactt ggggaaggag acactgagag
     3721 acttgccagt ttggttcctc atgaacaaaa gaggacagtt tgataactac cagaatagaa
     3781 tatccctagt tttaaaatag tgagaatctc tgaagttcat caacatctta agatgcactt
     3841 acttgaaagt ttgagattct gtttatcatt tgaaaacaca ttttgcttta attctttctt
     3901 tgacatgttg ttttttcata tcaagaaata tatgaacaaa ataataacct tttgaccctg
     3961 accttgctgg gtgaattagc tctgaaacac tctctacaac cagtaatgca tttgtcccac
     4021 atttcattct gatagaaaat gaacaccata gcaccaaaca aaaatccgag gcgttagata
     4081 atgtctggat taaataattt aagactctct aggattttgg ttgtcatttt ttatttataa
     4141 cagactttaa gtcactttct gttgcctcat aggtcacatt ttagacaggt ttgtgtctgt
     4201 tccttgcatc tgaattcctg attgtaaaga cacctatgag gtctcttagt ttttgtcatt
     4261 cattttcttg gtttatcacc cctcccttct ttttgttgtt tttccctgac tgttaagcag
     4321 tttcatcttt gcttttgtta aatatttgac agcagttagt ttgtgttaag ctcttgaaac
     4381 ttgtgattgt actttctgtg tagatataca tgtaattatt ttttattttt caatcataga
     4441 ttcaagcttc cttctttttt accacaaatc attaaagtta tttgtgtttc catatacctg
     4501 tgtcttgtat aaaattggct tattctgtgc tgttgaatga ggctcaacat gacttggtga
     4561 ggaagtctat taactaacaa aagcttatct tttttaacat aatgcttttt aattaatttt
     4621 gaataaaaat atttctaaag tgtactagat actttattac cttagattat tccgaataca
     4681 gtataacttt gatagtttgg aatagtcatt aagaaacaat tacacactga ttgctttgtg
     4741 tctctaaaag tgagaggctg gtagcttttc cacattctca tggctatttt ctagttctac
     4801 ttgaatttat aactgtttcc ctttttcctt gacagctgcc actttgtagc tatttttctg
     4861 tctctgctaa tactttacca tatctatctc aattgttttt tcttttgact tgctgaaaaa
     4921 tagaaaccag atgggaagta tattagcatt atgattgaaa taagggtaaa tgagcaatgt
     4981 gtgaaggttt tcactgactt cacctaaaag atagtttagc tacttgaatt ttagtaaata
     5041 gaatttttcc tttatttcat cggtcccccc accttttttt ttttttgcac ctgccttgta
     5101 aatttaatag ttaagtgacc tctgcctaga ggatgatatt tggggaggtt tgatgtttcc
     5161 tgtgggaata agacgattca caggtgagag tggggccaca ttagctgtta ttgtttccat
     5221 gggtcagtgt ggaaaatgca ttaatcatat tctaaacgtt catgggcctc attacagtca
     5281 caattgtcta ttctgtttcc taccctgaac acattaaaat ggtaggaact aatgcttgtc
     5341 ttatttaatt actaaaagcc accattttct ttgatagatt gagctacaga ttgtaaactt
     5401 catgtatttc tttataagtc aacccttttc aaagatacgc acatcaaact gaatgaataa
     5461 ataaatattg agaagttg
//
LOCUS       NM_000466               4369 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens peroxisomal biogenesis factor 1 (PEX1), transcript
            variant 1, mRNA.
ACCESSION   NM_000466
VERSION     NM_000466.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4369)
  AUTHORS   Liang JS, Hung KL, Lin LJ, Ong WP, Keng WT and Lu JF.
  TITLE     Novel PEX1 mutations in fibroblasts from children with Zellweger
            spectrum disorders exhibit temperature sensitive characteristics
  JOURNAL   Epilepsy Behav 145, 109266 (2023)
   PUBMED   37385119
  REMARK    GeneRIF: Novel PEX1 mutations in fibroblasts from children with
            Zellweger spectrum disorders exhibit temperature sensitive
            characteristics.
REFERENCE   2  (bases 1 to 4369)
  AUTHORS   Ott J, Sehr J, Schmidt N, Schliebs W and Erdmann R.
  TITLE     Comparison of human PEX knockout cell lines suggests a dual role of
            PEX1 in peroxisome biogenesis
  JOURNAL   Biol Chem 404 (2-3), 209-219 (2022)
   PUBMED   36534601
  REMARK    GeneRIF: Comparison of human PEX knockout cell lines suggests a dual
            role of PEX1 in peroxisome biogenesis. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 4369)
  AUTHORS   Herijgers D, Denayer E, Balikova I, Witters P, Jacob J and Casteels
            I.
  TITLE     Two siblings with Heimler syndrome caused by PEX1 variants:
            follow-up of ophthalmologic findings
  JOURNAL   Ophthalmic Genet 42 (4), 480-485 (2021)
   PUBMED   33955814
  REMARK    GeneRIF: Two siblings with Heimler syndrome caused by PEX1 variants:
            follow-up of ophthalmologic findings.
REFERENCE   4  (bases 1 to 4369)
  AUTHORS   Park NY, Jo DS, Park SJ, Lee H, Bae JE, Hong Y, Kim JB, Kim YH, Park
            HJ, Choi JY, Lee HJ, Ryoo ZY, Lee HS, Kim JC, Lee EK and Cho DH.
  TITLE     Depletion of HNRNPA1 induces peroxisomal autophagy by regulating
            PEX1 expression
  JOURNAL   Biochem Biophys Res Commun 545, 69-74 (2021)
   PUBMED   33545634
  REMARK    GeneRIF: Depletion of HNRNPA1 induces peroxisomal autophagy by
            regulating PEX1 expression.
REFERENCE   5  (bases 1 to 4369)
  AUTHORS   Faber KN, Heyman JA and Subramani S.
  TITLE     Two AAA family peroxins, PpPex1p and PpPex6p, interact with each
            other in an ATP-dependent manner and are associated with different
            subcellular membranous structures distinct from peroxisomes
  JOURNAL   Mol Cell Biol 18 (2), 936-943 (1998)
   PUBMED   9447990
REFERENCE   6  (bases 1 to 4369)
  AUTHORS   Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau WH and
            Dodt G.
  TITLE     Human PEX1 is mutated in complementation group 1 of the peroxisome
            biogenesis disorders
  JOURNAL   Nat Genet 17 (4), 449-452 (1997)
   PUBMED   9398848
REFERENCE   7  (bases 1 to 4369)
  AUTHORS   Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R,
            Moser HW, Valle D and Gould SJ.
  TITLE     Mutations in PEX1 are the most common cause of peroxisome biogenesis
            disorders
  JOURNAL   Nat Genet 17 (4), 445-448 (1997)
   PUBMED   9398847
REFERENCE   8  (bases 1 to 4369)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24501781
REFERENCE   9  (bases 1 to 4369)
  AUTHORS   Steinberg,S.J., Raymond,G.V., Braverman,N.E. and Moser,A.B.
  TITLE     Zellweger Spectrum Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301621
REFERENCE   10  (bases 1 to 4369)
  AUTHORS   Naritomi K, Izumikawa Y, Ohshiro S, Yoshida K, Shimozawa N, Suzuki
            Y, Orii T and Hirayama K.
  TITLE     Gene assignment of Zellweger syndrome to 7q11.23: report of the
            second case associated with a pericentric inversion of chromosome 7
  JOURNAL   Hum Genet 84 (1), 79-80 (1989)
   PUBMED   2606480
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC035575.1, SRR1660805.204223.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000248633.9/ ENSP00000248633.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA313282.1, BC035575.1,
            DB461678.1, AF026086.1 and AI377121.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000466.2.
            Summary: This gene encodes a member of the AAA ATPase family, a
            large group of ATPases associated with diverse cellular activities.
            This protein is cytoplasmic but is often anchored to a peroxisomal
            membrane where it forms a heteromeric complex and plays a role in
            the import of proteins into peroxisomes and peroxisome biogenesis.
            Mutations in this gene have been associated with complementation
            group 1 peroxisomal disorders such as neonatal
            adrenoleukodystrophy, infantile Refsum disease, and Zellweger
            syndrome. Alternatively spliced transcript variants have been found
            for this gene. [provided by RefSeq, Sep 2013].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4369
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.2"
     gene            1..4369
                     /gene="PEX1"
                     /gene_synonym="HMLR1; PBD1A; PBD1B; ZWS; ZWS1"
                     /note="peroxisomal biogenesis factor 1"
                     /db_xref="GeneID:5189"
                     /db_xref="HGNC:HGNC:8850"
                     /db_xref="MIM:602136"
     CDS             86..3937
                     /gene="PEX1"
                     /gene_synonym="HMLR1; PBD1A; PBD1B; ZWS; ZWS1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     peroxisome biogenesis disorder protein 1; peroxin-1;
                     Zellweger syndrome; peroxisomal ATPase PEX1"
                     /codon_start=1
                     /product="peroxisomal ATPase PEX1 isoform 1"
                     /protein_id="NP_000457.1"
                     /db_xref="CCDS:CCDS5627.1"
                     /db_xref="GeneID:5189"
                     /db_xref="HGNC:HGNC:8850"
                     /db_xref="MIM:602136"
                     /translation="MWGSDRLAGAGGGGAAVTVAFTNARDCFLHLPRRLVAQLHLLQNQ
                     AIEVVWSHQPAFLSWVEGRHFSDQGENVAEINRQVGQKLGLSNGGQVFLKPCSHVVSCQ
                     QVEVEPLSADDWEILELHAVSLEQHLLDQIRIVFPKAIFPVWVDQQTYIFIQIVALIPA
                     ASYGRLETDTKLLIQPKTRRAKENTFSKADAEYKKLHSYGRDQKGMMKELQTKQLQSNT
                     VGITESNENESEIPVDSSSVASLWTMIGSIFSFQSEKKQETSWGLTEINAFKNMQSKVV
                     PLDNIFRVCKSQPPSIYNASATSVFHKHCAIHVFPWDQEYFDVEPSFTVTYGKLVKLLS
                     PKQQQSKTKQNVLSPEKEKQMSEPLDQKKIRSDHNEEDEKACVLQVVWNGLEELNNAIK
                     YTKNVEVLHLGKVWIPDDLRKRLNIEMHAVVRITPVEVTPKIPRSLKLQPRENLPKDIS
                     EEDIKTVFYSWLQQSTTTMLPLVISEEEFIKLETKDGLKEFSLSIVHSWEKEKDKNIFL
                     LSPNLLQKTTIQVLLDPMVKEENSEEIDFILPFLKLSSLGGVNSLGVSSLEHITHSLLG
                     RPLSRQLMSLVAGLRNGALLLTGGKGSGKSTLAKAICKEAFDKLDAHVERVDCKALRGK
                     RLENIQKTLEVAFSEAVWMQPSVVLLDDLDLIAGLPAVPEHEHSPDAVQSQRLAHALND
                     MIKEFISMGSLVALIATSQSQQSLHPLLVSAQGVHIFQCVQHIQPPNQEQRCEILCNVI
                     KNKLDCDINKFTDLDLQHVAKETGGFVARDFTVLVDRAIHSRLSRQSISTREKLVLTTL
                     DFQKALRGFLPASLRSVNLHKPRDLGWDKIGGLHEVRQILMDTIQLPAKYPELFANLPI
                     RQRTGILLYGPPGTGKTLLAGVIARESRMNFISVKGPELLSKYIGASEQAVRDIFIRAQ
                     AAKPCILFFDEFESIAPRRGHDNTGVTDRVVNQLLTQLDGVEGLQGVYVLAATSRPDLI
                     DPALLRPGRLDKCVYCPPPDQVSRLEILNVLSDSLPLADDVDLQHVASVTDSFTGADLK
                     ALLYNAQLEALHGMLLSSGLQDGSSSSDSDLSLSSMVFLNHSSGSDDSAGDGECGLDQS
                     LVSLEMSEILPDESKFNMYRLYFGSSYESELGNGTSSDLSSQCLSAPSSMTQDLPGVPG
                     KDQLFSQPPVLRTASQEGCQELTQEQRDQLRADISIIKGRYRSQSGEDESMNQPGPIKT
                     RLAISQSHLMTALGHTRPSISEDDWKNFAELYESFQNPKRRKNQSGTMFRPGQKVTLA"
     misc_feature    1121..1186
                     /gene="PEX1"
                     /gene_synonym="HMLR1; PBD1A; PBD1B; ZWS; ZWS1"
                     /note="propagated from UniProtKB/Swiss-Prot (O43933.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1145..1147
                     /gene="PEX1"
                     /gene_synonym="HMLR1; PBD1A; PBD1B; ZWS; ZWS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43933.1); phosphorylation site"
     misc_feature    3626..3628
                     /gene="PEX1"
                     /gene_synonym="HMLR1; PBD1A; PBD1B; ZWS; ZWS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43933.1); phosphorylation site"
     misc_feature    3710..3712
                     /gene="PEX1"
                     /gene_synonym="HMLR1; PBD1A; PBD1B; ZWS; ZWS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O43933.1); phosphorylation site"
     misc_feature    3716..3718
                     /gene="PEX1"
                     /gene_synonym="HMLR1; PBD1A; PBD1B; ZWS; ZWS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43933.1); phosphorylation site"
     misc_feature    3863..3934
                     /gene="PEX1"
                     /gene_synonym="HMLR1; PBD1A; PBD1B; ZWS; ZWS1"
                     /note="propagated from UniProtKB/Swiss-Prot (O43933.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4345..4350
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX1"
                     /gene_synonym="HMLR1; PBD1A; PBD1B; ZWS; ZWS1"
                     /note="hexamer: AATAAA"
     polyA_site      4369
                     /gene="PEX1"
                     /gene_synonym="HMLR1; PBD1A; PBD1B; ZWS; ZWS1"
                     /note="major polyA site"
ORIGIN
        1 ctccggctcc gacgtcctcg gcctgccggg tcccgggtcc tttgcggcgc tagggtgggc
       61 gaacccagag cgacgctccg ggacgatgtg gggcagcgat cgcctggcgg gtgctggggg
      121 aggcggggcg gcagtgactg tggccttcac caacgctcgc gactgcttcc tccacctgcc
      181 gcggcgtctc gtggcccagc tgcatctgct gcagaatcaa gctatagaag tggtctggag
      241 tcaccagcct gcattcttga gctgggtgga aggcaggcat tttagtgatc aaggtgaaaa
      301 tgtggctgaa attaacagac aagttggtca aaaacttgga ctctcaaatg ggggacaggt
      361 atttctcaag ccatgttccc atgtggtatc ttgtcaacaa gttgaggtgg aacccctctc
      421 agcagatgat tgggagatac tggagctgca tgctgtttcc cttgaacaac atcttctaga
      481 tcaaattcga atagtttttc caaaagccat ttttcctgtt tgggttgatc aacaaacgta
      541 catatttatc caaattgttg cactaatacc agctgcctct tatggaaggc tggaaactga
      601 caccaaactc cttattcagc caaagacacg ccgagccaaa gagaatacat tttcaaaagc
      661 tgatgctgaa tataaaaaac ttcatagtta tggaagagac cagaaaggaa tgatgaaaga
      721 acttcaaacc aagcaacttc agtcaaatac tgtgggaatc actgaatcta atgaaaacga
      781 gtcagagatt ccagttgact catcatcagt agcaagttta tggactatga taggaagcat
      841 tttttccttt caatctgaga agaaacaaga gacatcttgg ggtttaactg aaatcaatgc
      901 attcaaaaat atgcagtcaa aggttgttcc tctagacaat attttcagag tatgcaaatc
      961 tcaacctcct agtatatata acgcgtcagc aacctctgtt tttcataaac actgtgccat
     1021 tcatgtattt ccatgggacc aggaatattt tgatgtagag cccagcttta ctgtgacata
     1081 tggaaagcta gttaagctac tttctccaaa gcaacagcaa agtaaaacaa aacaaaatgt
     1141 gttatcacct gaaaaagaga agcagatgtc agagccacta gatcaaaaaa aaattaggtc
     1201 agatcataat gaagaagatg agaaggcctg tgtgctacaa gtagtctgga atggacttga
     1261 agaattgaac aatgccatca aatataccaa aaatgtagaa gttctccatc ttgggaaagt
     1321 ctggattcca gatgacctga ggaagagact aaatatagaa atgcatgccg tagtcaggat
     1381 aactccagtg gaagttaccc ctaaaattcc aagatctcta aagttacaac ctagagagaa
     1441 tttacctaaa gacataagtg aagaagacat aaaaactgta ttttattcat ggctacagca
     1501 gtctactacc accatgcttc ctttggtaat atcagaggaa gaatttatta agctggaaac
     1561 taaagatgga ctgaaggaat tttctctgag tatagttcat tcttgggaaa aagaaaaaga
     1621 taaaaatatt tttctgttga gtcccaattt gctgcagaag actacaatac aagtccttct
     1681 agatcctatg gtaaaagaag aaaacagtga ggaaattgac tttattcttc cttttttaaa
     1741 gctgagctct ttgggaggag tgaattcctt aggcgtatcc tccttggagc acatcactca
     1801 cagcctcctg ggacgccctt tgtctcggca gctgatgtct cttgttgcag gacttaggaa
     1861 tggagctctt ttactcacag gaggaaaggg aagtggaaaa tcaactttag ccaaagcaat
     1921 ctgtaaagaa gcatttgaca aactggatgc ccatgtggag agagttgact gtaaagcttt
     1981 acgaggaaaa aggcttgaaa acatacaaaa aaccctagag gtggctttct cagaggcagt
     2041 gtggatgcag ccatctgttg tcctgctgga tgaccttgac ctcattgctg gactgcctgc
     2101 tgtcccggaa catgagcaca gtcctgatgc ggtgcagagc cagcggcttg ctcatgcttt
     2161 gaatgatatg ataaaagagt ttatctccat gggaagtttg gttgcactga ttgccacaag
     2221 tcagtctcag caatctctac atcctttact tgtttctgct caaggagttc acatatttca
     2281 gtgcgtccaa cacattcagc ctcctaatca ggaacaaaga tgtgaaattc tgtgtaatgt
     2341 aataaaaaat aaattggact gtgatataaa caagttcacc gatcttgacc tgcagcatgt
     2401 agctaaagaa actggcgggt ttgtggctag agattttaca gtacttgtgg atcgagccat
     2461 acattctcga ctctctcgtc agagtatatc caccagagaa aaattagttt taacaacatt
     2521 ggacttccaa aaggctctcc gcggatttct tcctgcgtct ttgcgaagtg tcaacctgca
     2581 taaacctaga gacctgggtt gggacaagat tggtgggtta catgaagtta ggcagatact
     2641 catggatact atccagttac ctgccaagta tccagaatta tttgcaaact tgcccatacg
     2701 acaaagaaca ggaatactgt tgtatggtcc gcctggaaca ggaaaaacct tactagctgg
     2761 ggtaattgca cgagagagta gaatgaattt tataagtgtc aaggggccag agttactcag
     2821 caaatacatt ggagcaagtg aacaagctgt tcgggatatt tttattagag cacaggctgc
     2881 aaagccctgc attcttttct ttgatgaatt tgaatccatt gctcctcggc ggggtcatga
     2941 taatacagga gttacagacc gagtagttaa ccagttgctg actcagttgg atggagtaga
     3001 aggcttacag ggtgtttatg tattggctgc tactagtcgc cctgacttga ttgaccctgc
     3061 cctgcttagg cctggtcgac tagataaatg tgtatactgt cctcctcctg atcaggtgtc
     3121 acgtcttgaa attttaaatg tcctcagtga ctctctacct ctggcagatg atgttgacct
     3181 tcagcatgta gcatcagtaa ctgactcctt tactggagct gatctgaaag ctttacttta
     3241 caatgcccaa ttggaggcct tacatggaat gctgctctcg agtggactcc aggatggaag
     3301 ttccagctct gatagtgacc taagtctgtc ttcaatggtc tttcttaacc atagcagtgg
     3361 ctctgacgat tcagctggag atggagaatg tggcttagat cagtcccttg tttctttaga
     3421 gatgtccgag atccttccag atgaatcaaa attcaatatg taccggctct actttggaag
     3481 ctcttatgaa tcagaacttg gaaatggaac ctcttctgat ttgagctcac aatgtctctc
     3541 tgcaccaagc tccatgactc aggatttgcc tggagttcct gggaaagacc agttgttttc
     3601 acagcctcca gtgttaagga cagcttcaca agagggttgc caagaactta cacaagaaca
     3661 aagagatcaa ctgagggcag atatcagtat tatcaaaggc agataccgga gccaaagtgg
     3721 agaggacgaa tccatgaacc aaccaggacc aatcaaaacc agactggcta ttagtcagtc
     3781 acatttaatg actgcacttg gtcacacaag accatccatt agtgaagatg actggaagaa
     3841 ttttgctgag ctatatgaaa gctttcaaaa tccaaagagg agaaaaaatc aaagtggaac
     3901 aatgtttcga cctggacaga aagtaacttt agcataaaat atacttcttt ttgatttggt
     3961 tctgttaagt tttttgatgg cttttccata tgttgtaaca ggaaaaaaat ggtgtctatg
     4021 aatttcttct taatttaaca aatttggtta atttataaaa tcacagattg gtaaatgcta
     4081 taattatgta atgatcagga ttgagattaa tactgtagta taaattggga cattataaca
     4141 gattccatat tttatttcct aaaatctaaa ttcagtcttt aatgaaataa tattagccaa
     4201 atggtggaac taatttattt cttttgagga aaagataata aagaatgtaa ttaaatttaa
     4261 atttcttgga attcccagtt gtatattcat cacctttgta gcatttgaca aattttatgc
     4321 ttagcagctt cttcactgtt ttgaaataaa atatcctatt acctactga
//
LOCUS       NM_000474               1630 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens twist family bHLH transcription factor 1 (TWIST1),
            transcript variant 1, mRNA.
ACCESSION   NM_000474
VERSION     NM_000474.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1630)
  AUTHORS   Rens G, Figley TD, Gallivan JP, Liu Y and Culham JC.
  TITLE     Grasping with a Twist: Dissociating Action Goals from Motor Actions
            in Human Frontoparietal Circuits
  JOURNAL   J Neurosci 43 (32), 5831-5847 (2023)
   PUBMED   37474309
  REMARK    GeneRIF: Grasping with a Twist: Dissociating Action Goals from Motor
            Actions in Human Frontoparietal Circuits.
REFERENCE   2  (bases 1 to 1630)
  AUTHORS   Chen J, Wu Z, Deng W, Tang M, Wu L, Lin N, Chen L, Fu Y, Zhao M,
            Chen C and Li W.
  TITLE     USP51 promotes non-small cell lung carcinoma cell stemness by
            deubiquitinating TWIST1
  JOURNAL   J Transl Med 21 (1), 453 (2023)
   PUBMED   37422632
  REMARK    GeneRIF: USP51 promotes non-small cell lung carcinoma cell stemness
            by deubiquitinating TWIST1. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1630)
  AUTHORS   Chen G, Zhang WL, Zhang SM, Tang KL and Zhang Y.
  TITLE     LncRNA FOXD2-AS1 facilitates the progression of hepatocellular
            carcinoma by regulating TWIST1
  JOURNAL   Eur Rev Med Pharmacol Sci 27 (10), 4536-4543 (2023)
   PUBMED   37259735
  REMARK    GeneRIF: LncRNA FOXD2-AS1 facilitates the progression of
            hepatocellular carcinoma by regulating TWIST1.
REFERENCE   4  (bases 1 to 1630)
  AUTHORS   Jahanbin B, Sarmadi S, Ghasemi D, Nili F, Moradi JA and Ghasemi S.
  TITLE     Pathogenic role of Twist-1 protein in hydatidiform molar pregnancies
            and investigation of its potential diagnostic utility in complete
            moles
  JOURNAL   Diagn Pathol 18 (1), 40 (2023)
   PUBMED   36991485
  REMARK    GeneRIF: Pathogenic role of Twist-1 protein in hydatidiform molar
            pregnancies and investigation of its potential diagnostic utility in
            complete moles. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1630)
  AUTHORS   Zhao Z, Rahman MA, Chen ZG and Shin DM.
  TITLE     Multiple biological functions of Twist1 in various cancers
  JOURNAL   Oncotarget 8 (12), 20380-20393 (2017)
   PUBMED   28099910
  REMARK    Review article
REFERENCE   6  (bases 1 to 1630)
  AUTHORS   Wang SM, Coljee VW, Pignolo RJ, Rotenberg MO, Cristofalo VJ and
            Sierra F.
  TITLE     Cloning of the human twist gene: its expression is retained in adult
            mesodermally-derived tissues
  JOURNAL   Gene 187 (1), 83-92 (1997)
   PUBMED   9073070
REFERENCE   7  (bases 1 to 1630)
  AUTHORS   el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P,
            Renier D, Bourgeois P, Bolcato-Bellemin AL, Munnich A and
            Bonaventure J.
  TITLE     Mutations of the TWIST gene in the Saethre-Chotzen syndrome
  JOURNAL   Nat Genet 15 (1), 42-46 (1997)
   PUBMED   8988167
REFERENCE   8  (bases 1 to 1630)
  AUTHORS   Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna RI,
            Garcia Delgado C, Gonzalez-Ramos M, Kline AD and Jabs EW.
  TITLE     Mutations in TWIST, a basic helix-loop-helix transcription factor,
            in Saethre-Chotzen syndrome
  JOURNAL   Nat Genet 15 (1), 36-41 (1997)
   PUBMED   8988166
REFERENCE   9  (bases 1 to 1630)
  AUTHORS   Bourgeois P, Stoetzel C, Bolcato-Bellemin AL, Mattei MG and
            Perrin-Schmitt F.
  TITLE     The human H-twist gene is located at 7p21 and encodes a B-HLH
            protein that is 96% similar to its murine M-twist counterpart
  JOURNAL   Mamm Genome 7 (12), 915-917 (1996)
   PUBMED   8995765
REFERENCE   10  (bases 1 to 1630)
  AUTHORS   Gallagher,E.R., Ratisoontorn,C. and Cunningham,M.L.
  TITLE     Saethre-Chotzen Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301368
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X99268.1, BC036704.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA2467147 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000242261.6/ ENSP00000242261.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC036704.2 and AW173505.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000474.3.
            Summary: This gene encodes a basic helix-loop-helix (bHLH)
            transcription factor that plays an important role in embryonic
            development. The encoded protein forms both homodimers and
            heterodimers that bind to DNA E box sequences and regulate the
            transcription of genes involved in cranial suture closure during
            skull development. This protein may also regulate neural tube
            closure, limb development and brown fat metabolism. This gene is
            hypermethylated and overexpressed in multiple human cancers, and
            the encoded protein promotes tumor cell invasion and metastasis, as
            well as metastatic recurrence. Mutations in this gene cause
            Saethre-Chotzen syndrome in human patients, which is characterized
            by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq,
            Jul 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1630
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.1"
     gene            1..1630
                     /gene="TWIST1"
                     /gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS; CRS1; CSO;
                     SCS; SWCOS; TWIST"
                     /note="twist family bHLH transcription factor 1"
                     /db_xref="GeneID:7291"
                     /db_xref="HGNC:HGNC:12428"
                     /db_xref="MIM:601622"
     CDS             316..924
                     /gene="TWIST1"
                     /gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS; CRS1; CSO;
                     SCS; SWCOS; TWIST"
                     /note="twist homolog 1; twist basic helix-loop-helix
                     transcription factor 1; H-twist; TWIST homolog of
                     drosophila; B-HLH DNA binding protein; class A basic
                     helix-loop-helix protein 38"
                     /codon_start=1
                     /product="twist-related protein 1"
                     /protein_id="NP_000465.1"
                     /db_xref="CCDS:CCDS5367.1"
                     /db_xref="GeneID:7291"
                     /db_xref="HGNC:HGNC:12428"
                     /db_xref="MIM:601622"
                     /translation="MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRRS
                     AGGGAGPGGAAGGGVGGGDEPGSPAQGKRGKKSAGCGGGGGAGGGGGSSSGGGSPQSYE
                     ELQTQRVMANVRERQRTQSLNEAFAALRKIIPTLPSDKLSKIQTLKLAARYIDFLYQVL
                     QSDELDSKMASCSYVAHERLSYAFSVWRMEGAWSMSASH"
     misc_feature    316..630
                     /gene="TWIST1"
                     /gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS; CRS1; CSO;
                     SCS; SWCOS; TWIST"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15672.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    796..888
                     /gene="TWIST1"
                     /gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS; CRS1; CSO;
                     SCS; SWCOS; TWIST"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15672.1);
                     Region: Sufficient for transactivation activity.
                     /evidence=ECO:0000250"
     regulatory      1613..1618
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TWIST1"
                     /gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS; CRS1; CSO;
                     SCS; SWCOS; TWIST"
                     /note="hexamer: TATAAA"
     polyA_site      1630
                     /gene="TWIST1"
                     /gene_synonym="ACS3; bHLHa38; BPES2; BPES3; CRS; CRS1; CSO;
                     SCS; SWCOS; TWIST"
                     /note="major polyA site"
ORIGIN
        1 aactcccaga cacctcgcgg gctctgcagc accggcaccg tttccaggag gcctggcggg
       61 gtgtgcgtcc agccgttggg cgctttcttt ttggacctcg gggccatcca caccgtcccc
      121 tccccctccc gcctccctcc ccgcctcccc cgcgcgccct ccccgcggag gtccctcccg
      181 tccgtcctcc tgctctctcc tccgcgggcc gcatcgcccg ggccggcgcc gcgcgcgggg
      241 gaagctggcg ggctgaggcg ccccgctctt ctcctctgcc ccgggcccgc gaggccacgc
      301 gtcgccgctc gagagatgat gcaggacgtg tccagctcgc cagtctcgcc ggccgacgac
      361 agcctgagca acagcgagga agagccagac cggcagcagc cgccgagcgg caagcgcggg
      421 ggacgcaagc ggcgcagcag caggcgcagc gcgggcggcg gcgcggggcc cggcggagcc
      481 gcgggtgggg gcgtcggagg cggcgacgag ccgggcagcc cggcccaggg caagcgcggc
      541 aagaagtctg cgggctgtgg cggcggcggc ggcgcgggcg gcggcggcgg cagcagcagc
      601 ggcggcggga gtccgcagtc ttacgaggag ctgcagacgc agcgggtcat ggccaacgtg
      661 cgggagcgcc agcgcaccca gtcgctgaac gaggcgttcg ccgcgctgcg gaagatcatc
      721 cccacgctgc cctcggacaa gctgagcaag attcagaccc tcaagctggc ggccaggtac
      781 atcgacttcc tctaccaggt cctccagagc gacgagctgg actccaagat ggcaagctgc
      841 agctatgtgg ctcacgagcg gctcagctac gccttctcgg tctggaggat ggagggggcc
      901 tggtccatgt ccgcgtccca ctagcaggcg gagcccccca ccccctcagc agggccggag
      961 acctagatgt cattgtttcc agagaaggag aaaatggaca gtctagagac tctggagctg
     1021 gataactaaa aataaaaata tatgccaaag attttcttgg aaattagaag agcaaaatcc
     1081 aaattcaaag aaacagggcg tggggcgcac ttttaaaaga gaaagcgaga caggcccgtg
     1141 gacagtgatt cccagacggg cagcggcacc atcctcacac ctctgcattc tgatagaagt
     1201 ctgaacagtt gtttgtgttt tttttttttt tttttttgac gaagaatgtt tttattttta
     1261 tttttttcat gcatgcattc tcaagaggtc gtgccaatca gccactgaaa ggaaaggcat
     1321 cactatggac tttctctatt ttaaaatggt aacaatcaga ggaactataa gaacaccttt
     1381 agaaataaaa atactgggat caaactggcc tgcaaaacca tagtcagtta attctttttt
     1441 tcatccttcc tctgagggga aaaacaaaaa aaaacttaaa atacaaaaaa caacattcta
     1501 tttatttatt gaggacccat ggtaaaatgc aaatagatcc ggtgtctaaa tgcattcata
     1561 tttttatgat tgttttgtaa atatctttgt atatttttct gcaataaata aatataaaaa
     1621 atttagagaa
//
LOCUS       NM_000475               1813 bp    mRNA    linear   PRI 19-JUN-2023
DEFINITION  Homo sapiens nuclear receptor subfamily 0 group B member 1 (NR0B1),
            mRNA.
ACCESSION   NM_000475
VERSION     NM_000475.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1813)
  AUTHORS   Jiang Y, Peng H, Zhao R, Chang Y, Liu J, Fu L, Li L, Ma Y, Li W and
            Jiang H.
  TITLE     New insights into X-linked adrenal hypoplasia congenita from a novel
            splice-site variant of NR0B1 and adrenal CT images
  JOURNAL   Mol Genet Genomic Med 11 (6), e2171 (2023)
   PUBMED   37118935
  REMARK    GeneRIF: New insights into X-linked adrenal hypoplasia congenita
            from a novel splice-site variant of NR0B1 and adrenal CT images.
REFERENCE   2  (bases 1 to 1813)
  AUTHORS   Ota T, Katsumata N, Naiki Y and Horikawa R.
  TITLE     Novel non-stop variant of the NR0B1 gene in two siblings with
            adrenal hypoplasia congenita
  JOURNAL   J Pediatr Endocrinol Metab 35 (9), 1189-1193 (2022)
   PUBMED   35848959
  REMARK    GeneRIF: Novel non-stop variant of the NR0B1 gene in two siblings
            with adrenal hypoplasia congenita. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1813)
  AUTHORS   Gupta P, Sharma R and Jain V.
  TITLE     Adrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism Syndrome
            Due to NR0B1 Gene Mutations
  JOURNAL   Indian J Pediatr 89 (6), 587-590 (2022)
   PUBMED   35230670
  REMARK    GeneRIF: Adrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism
            Syndrome Due to NR0B1 Gene Mutations.
REFERENCE   4  (bases 1 to 1813)
  AUTHORS   Haynes JM, Sibuea SM, Aguiar AA, Li F, Ho JK and Pouton CW.
  TITLE     Inhibition of beta-catenin dependent WNT signalling upregulates the
            transcriptional repressor NR0B1 and downregulates markers of an A9
            phenotype in human embryonic stem cell-derived dopaminergic neurons:
            Implications for Parkinson's disease
  JOURNAL   PLoS One 16 (12), e0261730 (2021)
   PUBMED   34941945
  REMARK    GeneRIF: Inhibition of beta-catenin dependent WNT signalling
            upregulates the transcriptional repressor NR0B1 and downregulates
            markers of an A9 phenotype in human embryonic stem cell-derived
            dopaminergic neurons: Implications for Parkinson's disease.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1813)
  AUTHORS   Burris TP, Guo W, Le T and McCabe ER.
  TITLE     Identification of a putative steroidogenic factor-1 response element
            in the DAX-1 promoter
  JOURNAL   Biochem Biophys Res Commun 214 (2), 576-581 (1995)
   PUBMED   7677767
REFERENCE   6  (bases 1 to 1813)
  AUTHORS   Mohnach,L., Fechner,P.Y. and Keegan,C.E.
  TITLE     Nonsyndromic Disorders of Testicular Development Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301714
REFERENCE   7  (bases 1 to 1813)
  AUTHORS   Achermann,J.C. and Vilain,E.J.
  TITLE     NR0B1-Related Adrenal Hypoplasia Congenita
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301604
REFERENCE   8  (bases 1 to 1813)
  AUTHORS   Walker AP, Chelly J, Love DR, Brush YI, Recan D, Chaussain JL, Oley
            CA, Connor JM, Yates J, Price DA et al.
  TITLE     A YAC contig in Xp21 containing the adrenal hypoplasia congenita and
            glycerol kinase deficiency genes
  JOURNAL   Hum Mol Genet 1 (8), 579-585 (1992)
   PUBMED   1301166
REFERENCE   9  (bases 1 to 1813)
  AUTHORS   Worley KC, Towbin JA, Zhu XM, Barker DF, Ballabio A, Chamberlain J,
            Biesecker LG, Blethen SL, Brosnan P, Fox JE et al.
  TITLE     Identification of new markers in Xp21 between DXS28 (C7) and DMD
  JOURNAL   Genomics 13 (4), 957-961 (1992)
   PUBMED   1505987
REFERENCE   10  (bases 1 to 1813)
  AUTHORS   Petersen,K.E., Bille,T., Jacobsen,B.B. and Iversen,T.
  TITLE     X-linked congenital adrenal hypoplasia. A study of five generations
            of a Greenlandic Family
  JOURNAL   Acta Paediatr Scand 71 (6), 947-951 (1982)
   PUBMED   6891556
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: S74720.1, BC011564.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378970.5/ ENSP00000368253.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005926.1, BI772108.1,
            BC011564.1, AW612655.1 and AC005185.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000475.4.
            Summary: This gene encodes a protein that contains a DNA-binding
            domain. The encoded protein acts as a dominant-negative regulator
            of transcription which is mediated by the retinoic acid receptor.
            This protein also functions as an anti-testis gene by acting
            antagonistically to Sry. Mutations in this gene result in both
            X-linked congenital adrenal hypoplasia and hypogonadotropic
            hypogonadism. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1813
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp21.2"
     gene            1..1813
                     /gene="NR0B1"
                     /gene_synonym="AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG;
                     NROB1; SRXY2"
                     /note="nuclear receptor subfamily 0 group B member 1"
                     /db_xref="GeneID:190"
                     /db_xref="HGNC:HGNC:7960"
                     /db_xref="MIM:300473"
     CDS             28..1440
                     /gene="NR0B1"
                     /gene_synonym="AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG;
                     NROB1; SRXY2"
                     /note="nuclear hormone receptor; nuclear receptor DAX-1;
                     DSS-AHC critical region on the X chromosome protein 1"
                     /codon_start=1
                     /product="nuclear receptor subfamily 0 group B member 1"
                     /protein_id="NP_000466.2"
                     /db_xref="CCDS:CCDS14223.1"
                     /db_xref="GeneID:190"
                     /db_xref="HGNC:HGNC:7960"
                     /db_xref="MIM:300473"
                     /translation="MAGENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCGD
                     EPGVGREGLLGGRNVALLYRCCFCGKDHPRQGSILYSMLTSAKQTYAAPKAPEATLGPC
                     WGCSCGSDPGVGRAGLPGGRPVALLYRCCFCGEDHPRQGSILYSLLTSSKQTHVAPAAP
                     EARPGGAWWDRSYFAQRPGGKEALPGGRATALLYRCCFCGEDHPQQGSTLYCVPTSTNQ
                     AQAAPEERPRAPWWDTSSGALRPVALKSPQVVCEAASAGLLKTLRFVKYLPCFQVLPLD
                     QQLVLVRNCWASLLMLELAQDRLQFETVEVSEPSMLQKILTTRRRETGGNEPLPVPTLQ
                     HHLAPPAEARKVPSASQVQAIKCFLSKCWSLNISTKEYAYLKGTVLFNPDVPGLQCVKY
                     IQGLQWGTQQILSEHTRMTHQGPHDRFIELNSTLFLLRFINANVIAELFFRPIIGTVSM
                     DDMMLEMLCTKI"
     misc_feature    28..786
                     /gene="NR0B1"
                     /gene_synonym="AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG;
                     NROB1; SRXY2"
                     /note="propagated from UniProtKB/Swiss-Prot (P51843.2);
                     Region: 4 X 67 AA tandem repeats"
     misc_feature    64..78
                     /gene="NR0B1"
                     /gene_synonym="AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG;
                     NROB1; SRXY2"
                     /note="propagated from UniProtKB/Swiss-Prot (P51843.2);
                     Region: LXXLL motif 1"
     misc_feature    265..279
                     /gene="NR0B1"
                     /gene_synonym="AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG;
                     NROB1; SRXY2"
                     /note="propagated from UniProtKB/Swiss-Prot (P51843.2);
                     Region: LXXLL motif 2"
     misc_feature    463..477
                     /gene="NR0B1"
                     /gene_synonym="AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG;
                     NROB1; SRXY2"
                     /note="propagated from UniProtKB/Swiss-Prot (P51843.2);
                     Region: LXXLL motif 3"
     misc_feature    1408..1425
                     /gene="NR0B1"
                     /gene_synonym="AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG;
                     NROB1; SRXY2"
                     /note="propagated from UniProtKB/Swiss-Prot (P51843.2);
                     Region: AF-2 motif"
     regulatory      1529..1534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NR0B1"
                     /gene_synonym="AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG;
                     NROB1; SRXY2"
                     /note="hexamer: AATAAA"
     polyA_site      1551
                     /gene="NR0B1"
                     /gene_synonym="AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG;
                     NROB1; SRXY2"
                     /note="major polyA site"
ORIGIN
        1 agaactgggc tacgggcgcc gcgggccatg gcgggcgaga accaccagtg gcagggcagc
       61 atcctctaca acatgcttat gagcgcgaag caaacgcgcg cggctcctga ggctccagag
      121 acgcggctgg tggatcagtg ctggggctgt tcgtgcggcg atgagcccgg ggtgggcaga
      181 gaggggctgc tgggcgggcg gaacgtggcg ctcctgtacc gctgctgctt ttgcggtaaa
      241 gaccacccac ggcagggcag catcctctac agcatgctga cgagcgcaaa gcaaacgtac
      301 gcggcaccga aggcgcccga ggcgacgctg ggtccgtgct ggggctgttc gtgcggctct
      361 gatcccgggg tgggcagagc ggggcttccg ggtgggcggc ccgtggcact cctgtaccgc
      421 tgctgctttt gtggtgaaga ccacccgcgg cagggcagca tcctctacag cttgctcact
      481 agctcaaagc aaacgcacgt ggctccggca gcgcccgagg cacggccagg gggcgcgtgg
      541 tgggaccgct cctacttcgc gcagaggcca gggggtaaag aggcgctacc aggcgggcgg
      601 gccacggcgc ttctgtaccg ctgctgcttt tgcggtgaag accacccgca gcagggcagc
      661 accctctact gcgtgcccac gagcacaaat caagcgcagg cggctccgga ggagcggccg
      721 agggccccct ggtgggacac ctcctctggt gcgctgcggc cggtggcgct caagagtcca
      781 caggtggtct gcgaggcagc ctcagcgggc ctgttgaaga cgctgcgctt cgtcaagtac
      841 ttgccctgct tccaggtgct gcccctggac cagcagctgg tgctggtgcg caactgctgg
      901 gcgtccctgc tcatgcttga gctggcccag gaccgcttgc agttcgagac tgtggaagtc
      961 tcggagccca gcatgctgca gaagatcctc accaccaggc ggcgggagac cgggggcaac
     1021 gagccactgc ccgtgcccac gctgcagcac catttggcac cgccggcgga ggccaggaag
     1081 gtgccctccg cctcccaggt ccaagccatc aagtgctttc tttccaaatg ctggagtctg
     1141 aacatcagta ccaaggagta cgcctacctc aaggggaccg tgctctttaa cccggacgtg
     1201 ccgggcctgc agtgcgtgaa gtacattcag ggactccagt ggggaactca gcaaatactc
     1261 agtgaacaca ccaggatgac gcaccaaggg ccccatgaca gattcatcga acttaatagt
     1321 acccttttcc tgctgagatt catcaatgcc aatgtcattg ctgaactgtt cttcaggccc
     1381 atcatcggca cagtcagcat ggatgatatg atgctggaaa tgctctgtac aaagatataa
     1441 agtcatgtgg gccacacaag tgcagtagtg cagttcacca tgagggaaga ataaagagct
     1501 gtgggcaaaa gagtgtaaaa tattttaaaa taaactttct taatattttt acatgcagag
     1561 tatttttgta ttcaattaaa gaaataattt tattccagac agtcacaaat ttctctgttc
     1621 catagttaaa gaagacattt gccaacaggt agcatagctc tgtacatctt ttaaaaaaaa
     1681 aatagcaggg tactagtata ataagctatt ttcacaagtg tagcaatttc atggaacctg
     1741 ctcaaatcaa atttgtacat attgttataa taaattttaa ggtcttaact attaacttga
     1801 ttgaaaaaag ctt
//
LOCUS       NM_000476               2192 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens adenylate kinase 1 (AK1), transcript variant 1, mRNA.
ACCESSION   NM_000476
VERSION     NM_000476.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2192)
  AUTHORS   Qin T, Zhao H, Shao Y, Hu N, Shi J, Fu L and Zhang Y.
  TITLE     High expression of AK1 predicts inferior prognosis in acute myeloid
            leukemia patients undergoing chemotherapy
  JOURNAL   Biosci Rep 40 (6) (2020)
   PUBMED   32519744
  REMARK    GeneRIF: High expression of AK1 predicts inferior prognosis in acute
            myeloid leukemia patients undergoing chemotherapy.
REFERENCE   2  (bases 1 to 2192)
  AUTHORS   Wang HS, Zhu Y and Sun F.
  TITLE     [Expressions of the adenylate kinase family in asthenospermia]
  JOURNAL   Zhonghua Nan Ke Xue 25 (12), 1077-1082 (2019)
   PUBMED   32251557
  REMARK    GeneRIF: The mRNA and protein expressions of AK1, AK6 and AK7 are
            significantly down-regulated in the sperm of asthenospermia
            patients, which may be closely related with reduced sperm motility.
REFERENCE   3  (bases 1 to 2192)
  AUTHORS   Jan YH, Lai TC, Yang CJ, Huang MS and Hsiao M.
  TITLE     A co-expressed gene status of adenylate kinase 1/4 reveals
            prognostic gene signature associated with prognosis and sensitivity
            to EGFR targeted therapy in lung adenocarcinoma
  JOURNAL   Sci Rep 9 (1), 12329 (2019)
   PUBMED   31444368
  REMARK    GeneRIF: A co-expressed gene status of adenylate kinase 1/4 reveals
            prognostic gene signature associated with prognosis and sensitivity
            to EGFR targeted therapy in lung adenocarcinoma. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 2192)
  AUTHORS   Pienkowska M, Choufani S, Turinsky AL, Guha T, Merino DM, Novokmet
            A, Brudno M, Weksberg R, Shlien A, Hawkins C, Bouffet E, Tabori U,
            Gilbertson RJ, Finlay JL, Jabado N, Thomas C, Sill M, Capper D,
            Hasselblatt M and Malkin D.
  TITLE     DNA methylation signature is prognostic of choroid plexus tumor
            aggressiveness
  JOURNAL   Clin Epigenetics 11 (1), 117 (2019)
   PUBMED   31409384
  REMARK    GeneRIF: Specific DNA methylation signatures for aggressive choroid
            plexus carcinoma (CPC) revealed AK1, PER2, and PLSCR4 as potential
            biomarkers for CPC that can be used to improve molecular
            stratification for diagnosis and treatment. Erratum:[Clin
            Epigenetics. 2019 Oct 21;11(1):144. PMID: 31639040] Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 2192)
  AUTHORS   Dongerdiye R, Kamat P, Jain P, Warang P, Devendra R, Wasekar N,
            Sharma R, Mhaskar K, Madkaikar MR, Manglani MV and Kedar PS.
  TITLE     Red cell adenylate kinase deficiency in India: identification of two
            novel missense mutations (c.71A>G and c.413G>A)
  JOURNAL   J Clin Pathol 72 (6), 393-398 (2019)
   PUBMED   30918013
  REMARK    GeneRIF: Case Reports: first case of adenylate kinase deficiency in
            Indian population due to novel AK1 mutations (c.71A>G and c.413G>A)
            associated with nonspherocytic haemolytic anaemia without
            psychomotor impairment.
REFERENCE   6  (bases 1 to 2192)
  AUTHORS   Matsuura S, Igarashi M, Tanizawa Y, Yamada M, Kishi F, Kajii T,
            Fujii H, Miwa S, Sakurai M and Nakazawa A.
  TITLE     Human adenylate kinase deficiency associated with hemolytic anemia.
            A single base substitution affecting solubility and catalytic
            activity of the cytosolic adenylate kinase
  JOURNAL   J Biol Chem 264 (17), 10148-10155 (1989)
   PUBMED   2542324
REFERENCE   7  (bases 1 to 2192)
  AUTHORS   Zuffardi O, Caiulo A, Maraschio P, Tupler R, Bianchi E, Amisano P,
            Beluffi G, Moratti R and Liguri G.
  TITLE     Regional assignment of the loci for adenylate kinase to 9q32 and for
            alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in
            region 9q32-qter?
  JOURNAL   Hum Genet 82 (1), 17-19 (1989)
   PUBMED   2541064
REFERENCE   8  (bases 1 to 2192)
  AUTHORS   Allderdice,P.W., Kaita,H., Lewis,M., McAlpine,P.J., Wong,P.,
            Anderson,J. and Giblett,E.R.
  TITLE     Segregation of marker loci in families with an inherited paracentric
            insertion of chromosome 9
  JOURNAL   Am J Hum Genet 39 (5), 612-617 (1986)
   PUBMED   3024483
REFERENCE   9  (bases 1 to 2192)
  AUTHORS   Tsuboi,K.K.
  TITLE     AMP (dAMP) kinase from human erythrocytes
  JOURNAL   Methods Enzymol 51, 467-473 (1978)
   PUBMED   211388
REFERENCE   10  (bases 1 to 2192)
  AUTHORS   Von Zabern,I., Wittmann-Liebold,B., Untucht-Grau,R., Schirmer,R.H.
            and Pai,E.F.
  TITLE     Primary and tertiary structure of the principal human adenylate
            kinase
  JOURNAL   Eur J Biochem 68 (1), 281-290 (1976)
   PUBMED   183954
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: EU794628.1, SRR14038196.476312.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144333,
            SAMEA2147920 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000644144.2/ ENSP00000494600.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157935.28.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 27, 2020 this sequence version replaced NM_000476.2.
            Summary: This gene encodes an adenylate kinase enzyme involved in
            energy metabolism and homeostasis of cellular adenine nucleotide
            ratios in different intracellular compartments. This gene is highly
            expressed in skeletal muscle, brain and erythrocytes. Certain
            mutations in this gene resulting in a functionally inadequate
            enzyme are associated with a rare genetic disorder causing
            nonspherocytic hemolytic anemia. Alternative splicing of this gene
            results in multiple transcript variants encoding different
            isoforms. This gene shares readthrough transcripts with the
            upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the shorter isoform (1). Both variants 1 and
            2 encode the same protein (isoform 1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2192
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..2192
                     /gene="AK1"
                     /gene_synonym="HTL-S-58j"
                     /note="adenylate kinase 1"
                     /db_xref="GeneID:203"
                     /db_xref="HGNC:HGNC:361"
                     /db_xref="MIM:103000"
     misc_feature    59..61
                     /gene="AK1"
                     /gene_synonym="HTL-S-58j"
                     /note="upstream in-frame stop codon"
     CDS             86..670
                     /gene="AK1"
                     /gene_synonym="HTL-S-58j"
                     /EC_number="2.7.4.10"
                     /EC_number="2.7.4.3"
                     /EC_number="2.7.4.6"
                     /note="isoform 1 is encoded by transcript variant 1;
                     adenylate kinase isoenzyme 1; myokinase; ATP-AMP
                     transphosphorylase 1; ATP:AMP phosphotransferase; adenylate
                     monophosphate kinase; testis secretory sperm binding
                     protein Li 58j; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="adenylate kinase isoenzyme 1 isoform 1"
                     /protein_id="NP_000467.1"
                     /db_xref="CCDS:CCDS6881.1"
                     /db_xref="GeneID:203"
                     /db_xref="HGNC:HGNC:361"
                     /db_xref="MIM:103000"
                     /translation="MEEKLKKTKIIFVVGGPGSGKGTQCEKIVQKYGYTHLSTGDLLRS
                     EVSSGSARGKKLSEIMEKGQLVPLETVLDMLRDAMVAKVNTSKGFLIDGYPREVQQGEE
                     FERRIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPVIAF
                     YEKRGIVRKVNAEGSVDSVFSQVCTHLDALK"
     misc_feature    86..88
                     /gene="AK1"
                     /gene_synonym="HTL-S-58j"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03171,
                     ECO:0000269|PubMed:183954; propagated from
                     UniProtKB/Swiss-Prot (P00568.3); acetylation site"
     misc_feature    197..286
                     /gene="AK1"
                     /gene_synonym="HTL-S-58j"
                     /note="propagated from UniProtKB/Swiss-Prot (P00568.3);
                     Region: NMP. /evidence=ECO:0000255|HAMAP-Rule:MF_03171,
                     ECO:0000269|Ref.11, ECO:0000269|Ref.12"
     misc_feature    197..199
                     /gene="AK1"
                     /gene_synonym="HTL-S-58j"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P00568.3); phosphorylation site"
     misc_feature    476..508
                     /gene="AK1"
                     /gene_synonym="HTL-S-58j"
                     /note="propagated from UniProtKB/Swiss-Prot (P00568.3);
                     Region: LID. /evidence=ECO:0000255|HAMAP-Rule:MF_03171,
                     ECO:0000269|Ref.11, ECO:0000269|Ref.12"
     regulatory      818..823
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AK1"
                     /gene_synonym="HTL-S-58j"
                     /note="hexamer: ACTAAA"
     polyA_site      839
                     /gene="AK1"
                     /gene_synonym="HTL-S-58j"
                     /note="major polyA site"
     regulatory      2169..2174
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AK1"
                     /gene_synonym="HTL-S-58j"
                     /note="hexamer: AATAAA"
     polyA_site      2192
                     /gene="AK1"
                     /gene_synonym="HTL-S-58j"
ORIGIN
        1 gaggacgggc agggcacgca ctggccccgg cgcccacccg cacccctccc cagagcactg
       61 acacggctcc cgggacctcg gcaggatgga agagaagctg aagaaaacca agatcatctt
      121 tgtggtgggt gggcctggct cagggaaggg cacccagtgt gagaagatcg tgcagaagta
      181 tggctacacc cacctctcca ccggggacct cctgcggtcc gaggtcagct caggctcggc
      241 caggggcaag aagctgtcgg aaatcatgga gaaggggcag ctggttccac tggagacagt
      301 gttggacatg ctccgggatg ccatggtggc caaagtcaat acttccaaag gcttcctgat
      361 tgatggctac ccgcgggagg tgcagcaagg agaagagttt gagcgacgga ttggacagcc
      421 cacactgctg ctgtatgtgg acgcaggccc tgagaccatg acccagcggc tcttgaaacg
      481 tggagagacc agcgggcgtg tggacgacaa tgaggagacc atcaaaaagc ggctggagac
      541 ctattacaag gccacagaac ctgtcatcgc cttctatgag aaacgtggca ttgtgcgcaa
      601 ggtcaacgct gagggctccg tggacagtgt cttctcccag gtctgcaccc acctggacgc
      661 cctaaagtag caacgctgga gccgcttccc cagctcagag ccccgcccca ccccgtcctg
      721 attcgaggtc ctcctggcct gagcgcagcg cctccaccct gccctgctga gcacagacgg
      781 aggaagccgc ttatcctgtt ttcatggaca gctgagcact aaaggaattt ctaaggacat
      841 ttggttttac tgctttttct ctgcttccag ttggagttga ttcatgtgct tgtgcctacc
      901 tggccgcaag tccccagccc ctcaaccctc cgttcctcct cagcctccct ttgccagcca
      961 cccctcctct agctctggtg ggaggcccgg ggcccttcct cgcacagggc atgcctggcc
     1021 tgaggacccg gcgctgagtg gcggggcccc tgctccgagg ggctcatgtt caggcagaac
     1081 cggtcccagc ctgggctcct ctgcatcttg ctctgtggcc ttggccctga cccccatcgc
     1141 tctgagcata tgttccatgc ctggcccttg ccggggcctg gactgcacag gcagcaaggt
     1201 catggtctga gtggggcttc ctgggcagtt ggggcggccc acgccagctg gcccagtggg
     1261 tagtgaattg gcttccttga cgcgagaggc tctgagggtc tgaaaagggc atctcaatgg
     1321 catgggtggg tggggagtca gtcatgtcac tgaaattgaa tgggggaggc ccaatgaggt
     1381 ggctcatgcc tgtaatccca gcactttggg aagctgaggc aggaggatcc cctgaggtca
     1441 ggagttcgag agcagcctgg ccaacatggc aaaacccctt atttactaaa aatacaaaaa
     1501 ttagccgggc atggtggcat gtgcctgtat tcccagctac tcatgaggct gaggcaggag
     1561 aatggcgtga acccgggagg tggagcttgc aatgagccaa gattgcgcca ctgcactcca
     1621 gcctgggtga cagagcaaga ctccgtctca aaaaaaaaaa aaaaaaaaaa gaaattgaat
     1681 tgggggagtc atggtcaggg gtgagacctg aaggacctcc ccctgtgtgg ccctggacac
     1741 agcccaccct ctgtgagccg tttccaattc taaaacagac tcaatgtccc cctcaccccc
     1801 acctcaaggt caggatgaga acacactgag tgaggagtgg acgctgtcca ttgccacggc
     1861 catgagggct ggagaccaga acagcatggc ccgaagcgtg cggggccccg gatgacttgg
     1921 ggacacccca gaatcccctg gggagaaccc ttcctgcgcg ctttcatttt ttgacctcat
     1981 cactgagaaa ggctcaattt ggtgctcacg tgtccttaac acctgatctg gcccaagctg
     2041 ggctcccttt aagccaagag agcctcttgt ggaccccgcc tgcccgaatg aaatccgaac
     2101 agttggggct gttcatggca agtggggctg gtttttcatt tccattggtt atttaaagtt
     2161 tcctttaaaa taaacgattt taagttataa aa
//
LOCUS       NM_000477               2285 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens albumin (ALB), mRNA.
ACCESSION   NM_000477
VERSION     NM_000477.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2285)
  AUTHORS   Paar M, Fengler VH, Reibnegger G, Schnurr K, Waterstradt K,
            Schwaminger SP, Stauber RE and Oettl K.
  TITLE     Determination of binding characteristics as a measure for effective
            albumin using different methods
  JOURNAL   Biochim Biophys Acta Gen Subj 1867 (9), 130427 (2023)
   PUBMED   37454915
  REMARK    GeneRIF: Determination of binding characteristics as a measure for
            effective albumin using different methods.
REFERENCE   2  (bases 1 to 2285)
  AUTHORS   Karasahin O and Inan Sarikaya R.
  TITLE     [The Role of Blood Urea Nitrogen and C-Reactive Protein and Their
            Ratios to Albumin in Predicting Mortality in Crimean-Congo
            Hemorrhagic Fever]
  JOURNAL   Mikrobiyol Bul 57 (3), 419-431 (2023)
   PUBMED   37462305
  REMARK    GeneRIF: [The Role of Blood Urea Nitrogen and C-Reactive Protein and
            Their Ratios to Albumin in Predicting Mortality in Crimean-Congo
            Hemorrhagic Fever].
REFERENCE   3  (bases 1 to 2285)
  AUTHORS   Zirafi O, Hermann PC and Munch J.
  TITLE     Proteolytic processing of human serum albumin generates EPI-X4, an
            endogenous antagonist of CXCR4
  JOURNAL   J Leukoc Biol 99 (6), 863-868 (2016)
   PUBMED   26965637
  REMARK    Review article
REFERENCE   4  (bases 1 to 2285)
  AUTHORS   Ha CE and Bhagavan NV.
  TITLE     Novel insights into the pleiotropic effects of human serum albumin
            in health and disease
  JOURNAL   Biochim Biophys Acta 1830 (12), 5486-5493 (2013)
   PUBMED   23602811
  REMARK    Review article
REFERENCE   5  (bases 1 to 2285)
  AUTHORS   Sugio S, Kashima A, Mochizuki S, Noda M and Kobayashi K.
  TITLE     Crystal structure of human serum albumin at 2.5 A resolution
  JOURNAL   Protein Eng 12 (6), 439-446 (1999)
   PUBMED   10388840
REFERENCE   6  (bases 1 to 2285)
  AUTHORS   Urano,Y., Watanabe,K., Sakai,M. and Tamaoki,T.
  TITLE     The human albumin gene. Characterization of the 5' and 3' flanking
            regions and the polymorphic gene transcripts
  JOURNAL   J Biol Chem 261 (7), 3244-3251 (1986)
   PUBMED   2419329
REFERENCE   7  (bases 1 to 2285)
  AUTHORS   Hawkins,J.W. and Dugaiczyk,A.
  TITLE     The human serum albumin gene: structure of a unique locus
  JOURNAL   Gene 19 (1), 55-58 (1982)
   PUBMED   6292049
REFERENCE   8  (bases 1 to 2285)
  AUTHORS   Dugaiczyk,A., Law,S.W. and Dennison,O.E.
  TITLE     Nucleotide sequence and the encoded amino acids of human serum
            albumin mRNA
  JOURNAL   Proc Natl Acad Sci U S A 79 (1), 71-75 (1982)
   PUBMED   6275391
REFERENCE   9  (bases 1 to 2285)
  AUTHORS   Heaney-Kieras,J. and King,T.P.
  TITLE     Limited pepsin digestion of human plasma albumin
  JOURNAL   J Biol Chem 252 (12), 4326-4329 (1977)
   PUBMED   325004
REFERENCE   10  (bases 1 to 2285)
  AUTHORS   Meloun,B., Moravek,L. and Kostka,V.
  TITLE     Complete amino acid sequence of human serum albumin
  JOURNAL   FEBS Lett 58 (1), 134-137 (1975)
   PUBMED   1225573
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC036003.1, SRR5189664.159361.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2142680 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: relevant for COVID-19 prognosis
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000295897.9/ ENSP00000295897.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB186399.1, DA642320.1,
            DQ986150.1, N53869.1 and AC108157.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000477.6.
            Summary: This gene encodes the most abundant protein in human
            blood. This protein functions in the regulation of blood plasma
            colloid osmotic pressure and acts as a carrier protein for a wide
            range of endogenous molecules including hormones, fatty acids, and
            metabolites, as well as exogenous drugs. Additionally, this protein
            exhibits an esterase-like activity with broad substrate
            specificity. The encoded preproprotein is proteolytically processed
            to generate the mature protein. A peptide derived from this
            protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine
            receptor. [provided by RefSeq, Jul 2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2285
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     gene            1..2285
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="albumin"
                     /db_xref="GeneID:213"
                     /db_xref="HGNC:HGNC:399"
                     /db_xref="MIM:103600"
     CDS             42..1871
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="serum albumin"
                     /codon_start=1
                     /product="albumin preproprotein"
                     /protein_id="NP_000468.1"
                     /db_xref="CCDS:CCDS3555.1"
                     /db_xref="GeneID:213"
                     /db_xref="HGNC:HGNC:399"
                     /db_xref="MIM:103600"
                     /translation="MKWVTFISLLFLFSSAYSRGVFRRDAHKSEVAHRFKDLGEENFKA
                     LVLIAFAQYLQQCPFEDHVKLVNEVTEFAKTCVADESAENCDKSLHTLFGDKLCTVATL
                     RETYGEMADCCAKQEPERNECFLQHKDDNPNLPRLVRPEVDVMCTAFHDNEETFLKKYL
                     YEIARRHPYFYAPELLFFAKRYKAAFTECCQAADKAACLLPKLDELRDEGKASSAKQRL
                     KCASLQKFGERAFKAWAVARLSQRFPKAEFAEVSKLVTDLTKVHTECCHGDLLECADDR
                     ADLAKYICENQDSISSKLKECCEKPLLEKSHCIAEVENDEMPADLPSLAADFVESKDVC
                     KNYAEAKDVFLGMFLYEYARRHPDYSVVLLLRLAKTYETTLEKCCAAADPHECYAKVFD
                     EFKPLVEEPQNLIKQNCELFEQLGEYKFQNALLVRYTKKVPQVSTPTLVEVSRNLGKVG
                     SKCCKHPEAKRMPCAEDYLSVVLNQLCVLHEKTPVSDRVTKCCTESLVNRRPCFSALEV
                     DETYVPKEFNAETFTFHADICTLSEKERQIKKQTALVELVKHKPKATKEQLKAVMDDFA
                     AFVEKCCKADDKETCFAEEGKKLVAASQAALGL"
     sig_peptide     42..95
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     114..1868
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /product="Albumin. /id=PRO_0000001068"
                     /note="propagated from UniProtKB/Swiss-Prot (P02768.2)"
     misc_feature    123..125
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    126..128
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); phosphorylation site"
     misc_feature    147..149
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:3759977; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    171..173
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    234..236
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    264..266
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine, in vitro.
                     /evidence=ECO:0000269|PubMed:15047055; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    285..287
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039,
                     ECO:0007744|PubMed:18318008, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P02768.2);
                     phosphorylation site"
     misc_feature    303..305
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    306..308
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); phosphorylation site"
     misc_feature    330..332
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    360..362
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Phosphothreonine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); phosphorylation site"
     misc_feature    390..392
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    429..431
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    519..521
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    522..524
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine, in vitro.
                     /evidence=ECO:0000269|PubMed:15047055; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    588..590
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    597..599
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine, in vitro.
                     /evidence=ECO:0000269|PubMed:15047055; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    633..635
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    654..656
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    681..683
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    696..698
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    708..710
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Aspirin-acetylated lysine; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); other site"
     misc_feature    708..710
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine, in vitro.
                     /evidence=ECO:0000269|PubMed:3759977,
                     ECO:0000269|PubMed:6853480; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    726..728
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    747..749
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    786..788
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine, in vitro.
                     /evidence=ECO:0000269|PubMed:15047055; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    810..812
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:15047055,
                     ECO:0000269|PubMed:3759977; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    831..833
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    897..899
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    930..932
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P07724; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); phosphorylation site"
     misc_feature    933..935
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    939..941
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine, in vitro.
                     /evidence=ECO:0000269|PubMed:15047055; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    954..956
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:3759977; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    969..971
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1050..1052
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine, in vitro.
                     /evidence=ECO:0000269|PubMed:15047055; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    1062..1064
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:3759977; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    1065..1067
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (GlcNAc...) asparagine, in variant Redhill.
                     /id=CAR_000226; propagated from UniProtKB/Swiss-Prot
                     (P02768.2); glycosylation site"
     misc_feature    1080..1082
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine, in vitro.
                     /evidence=ECO:0000269|PubMed:15047055; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    1164..1166
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:15047055,
                     ECO:0000269|PubMed:3759977; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    1188..1190
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1227..1229
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1245..1247
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine, in vitro.
                     /evidence=ECO:0000269|PubMed:15047055; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    1278..1280
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1317..1319
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     mat_peptide     1335..1382
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /product="EPI-X4"
                     /experiment="EXISTENCE:mass spectrometry evidence
                     [ECO:0001096][PMID:15054046]"
                     /exception="alternative processing"
     misc_feature    1350..1352
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine, in vitro.
                     /evidence=ECO:0000269|PubMed:15047055; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    1353..1355
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1368..1370
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); phosphorylation site"
     misc_feature    1371..1373
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); phosphorylation site"
     misc_feature    1377..1379
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); phosphorylation site"
     misc_feature    1407..1409
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1419..1421
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1428..1430
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:3759977; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    1443..1445
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine, in vitro.
                     /evidence=ECO:0000269|PubMed:15047055; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    1509..1511
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1536..1538
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1578..1580
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); phosphorylation site"
     misc_feature    1593..1595
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (GlcNAc...) asparagine, in variant
                     Casebrook. /id=CAR_000069; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    1611..1613
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1668..1670
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1683..1685
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1686..1688
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:15047055,
                     ECO:0000269|PubMed:3759977, ECO:0000269|PubMed:6706980,
                     ECO:0000269|PubMed:6853480; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    1713..1715
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine, alternate.
                     /evidence=ECO:0000269|PubMed:3759977; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    1713..1715
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); methylation site"
     misc_feature    1719..1721
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine, in vitro.
                     /evidence=ECO:0000269|PubMed:15047055; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    1725..1727
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1734..1736
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1746..1748
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine, in vitro.
                     /evidence=ECO:0000269|PubMed:15047055; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    1782..1784
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1791..1793
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1803..1805
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     misc_feature    1830..1832
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="N-linked (Glc) (glycation) lysine, in vitro.
                     /evidence=ECO:0000269|PubMed:15047055; propagated from
                     UniProtKB/Swiss-Prot (P02768.2); glycosylation site"
     misc_feature    1833..1835
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:15047055;
                     propagated from UniProtKB/Swiss-Prot (P02768.2); other
                     site"
     regulatory      2037..2042
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="hexamer: AATAAA"
     polyA_site      2059
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="major polyA site"
     regulatory      2192..2197
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="hexamer: AATAAA"
     polyA_site      2215
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
     regulatory      2267..2272
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
                     /note="hexamer: AATAAA"
     polyA_site      2285
                     /gene="ALB"
                     /gene_synonym="FDAHT; HSA; PRO0883; PRO0903; PRO1341"
ORIGIN
        1 ctagcttttc tcttctgtca accccacacg cctttggcac aatgaagtgg gtaaccttta
       61 tttcccttct ttttctcttt agctcggctt attccagggg tgtgtttcgt cgagatgcac
      121 acaagagtga ggttgctcat cggtttaaag atttgggaga agaaaatttc aaagccttgg
      181 tgttgattgc ctttgctcag tatcttcagc agtgtccatt tgaagatcat gtaaaattag
      241 tgaatgaagt aactgaattt gcaaaaacat gtgttgctga tgagtcagct gaaaattgtg
      301 acaaatcact tcataccctt tttggagaca aattatgcac agttgcaact cttcgtgaaa
      361 cctatggtga aatggctgac tgctgtgcaa aacaagaacc tgagagaaat gaatgcttct
      421 tgcaacacaa agatgacaac ccaaacctcc cccgattggt gagaccagag gttgatgtga
      481 tgtgcactgc ttttcatgac aatgaagaga catttttgaa aaaatactta tatgaaattg
      541 ccagaagaca tccttacttt tatgccccgg aactcctttt ctttgctaaa aggtataaag
      601 ctgcttttac agaatgttgc caagctgctg ataaagctgc ctgcctgttg ccaaagctcg
      661 atgaacttcg ggatgaaggg aaggcttcgt ctgccaaaca gagactcaag tgtgccagtc
      721 tccaaaaatt tggagaaaga gctttcaaag catgggcagt agctcgcctg agccagagat
      781 ttcccaaagc tgagtttgca gaagtttcca agttagtgac agatcttacc aaagtccaca
      841 cggaatgctg ccatggagat ctgcttgaat gtgctgatga cagggcggac cttgccaagt
      901 atatctgtga aaatcaagat tcgatctcca gtaaactgaa ggaatgctgt gaaaaacctc
      961 tgttggaaaa atcccactgc attgccgaag tggaaaatga tgagatgcct gctgacttgc
     1021 cttcattagc tgctgatttt gttgaaagta aggatgtttg caaaaactat gctgaggcaa
     1081 aggatgtctt cctgggcatg tttttgtatg aatatgcaag aaggcatcct gattactctg
     1141 tcgtgctgct gctgagactt gccaagacat atgaaaccac tctagagaag tgctgtgccg
     1201 ctgcagatcc tcatgaatgc tatgccaaag tgttcgatga atttaaacct cttgtggaag
     1261 agcctcagaa tttaatcaaa caaaattgtg agctttttga gcagcttgga gagtacaaat
     1321 tccagaatgc gctattagtt cgttacacca agaaagtacc ccaagtgtca actccaactc
     1381 ttgtagaggt ctcaagaaac ctaggaaaag tgggcagcaa atgttgtaaa catcctgaag
     1441 caaaaagaat gccctgtgca gaagactatc tatccgtggt cctgaaccag ttatgtgtgt
     1501 tgcatgagaa aacgccagta agtgacagag tcaccaaatg ctgcacagaa tccttggtga
     1561 acaggcgacc atgcttttca gctctggaag tcgatgaaac atacgttccc aaagagttta
     1621 atgctgaaac attcaccttc catgcagata tatgcacact ttctgagaag gagagacaaa
     1681 tcaagaaaca aactgcactt gttgagctcg tgaaacacaa gcccaaggca acaaaagagc
     1741 aactgaaagc tgttatggat gatttcgcag cttttgtaga gaagtgctgc aaggctgacg
     1801 ataaggagac ctgctttgcc gaggagggta aaaaacttgt tgctgcaagt caagctgcct
     1861 taggcttata acatcacatt taaaagcatc tcagcctacc atgagaataa gagaaagaaa
     1921 atgaagatca aaagcttatt catctgtttt tctttttcgt tggtgtaaag ccaacaccct
     1981 gtctaaaaaa cataaatttc tttaatcatt ttgcctcttt tctctgtgct tcaattaata
     2041 aaaaatggaa agaatctaat agagtggtac agcactgtta tttttcaaag atgtgttgct
     2101 atcctgaaaa ttctgtaggt tctgtggaag ttccagtgtt ctctcttatt ccacttcggt
     2161 agaggatttc tagtttcttg tgggctaatt aaataaatca ttaatactct tctaagttat
     2221 ggattataaa cattcaaaat aatattttga cattatgata attctgaata aaagaacaaa
     2281 aacca
//
LOCUS       NM_000478               2536 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens alkaline phosphatase, biomineralization associated
            (ALPL), transcript variant 1, mRNA.
ACCESSION   NM_000478
VERSION     NM_000478.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2536)
  AUTHORS   Calmarza P, Lapresta C, Martinez Garcia M, Ochoa J, Sienes Bailo P,
            Acha Perez J, Beltran Audera J and Gonzalez-Roca E.
  TITLE     Musculoskeletal pain and muscular weakness as the main symptoms of
            adult hypophosphatasia in a Spanish cohort: clinical
            characterization and identification of a new ALPL gene variant
  JOURNAL   J Bone Miner Metab 41 (5), 654-665 (2023)
   PUBMED   37351650
  REMARK    GeneRIF: Musculoskeletal pain and muscular weakness as the main
            symptoms of adult hypophosphatasia in a Spanish cohort: clinical
            characterization and identification of a new ALPL gene variant.
REFERENCE   2  (bases 1 to 2536)
  AUTHORS   Zhang H, Xiang G, Li J, He S, Wang Y, Deng A, Wang Y and Guo C.
  TITLE     Promotion effect of FGF23 on osteopenia in congenital scoliosis
            through FGFr3/TNAP/OPN pathway
  JOURNAL   Chin Med J (Engl) 136 (12), 1468-1477 (2023)
   PUBMED   37192015
  REMARK    GeneRIF: Promotion effect of FGF23 on osteopenia in congenital
            scoliosis through FGFr3/TNAP/OPN pathway.
REFERENCE   3  (bases 1 to 2536)
  AUTHORS   Kim TH, Park SY, Shin JH, Lee S, Joo KB and Koo BS.
  TITLE     Association between changes in serum alkaline phosphatase levels and
            radiographic progression in ankylosing spondylitis
  JOURNAL   Sci Rep 13 (1), 9093 (2023)
   PUBMED   37277451
  REMARK    GeneRIF: Association between changes in serum alkaline phosphatase
            levels and radiographic progression in ankylosing spondylitis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2536)
  AUTHORS   Motte-Signoret E, Jlassi M, Lecoq L, Wachter PY, Durandy A and
            Boileau P.
  TITLE     Early elevated alkaline phosphatase as a surrogate biomarker of
            ongoing metabolic bone disease of prematurity
  JOURNAL   Eur J Pediatr 182 (4), 1829-1837 (2023)
   PUBMED   36792831
  REMARK    GeneRIF: Early elevated alkaline phosphatase as a surrogate
            biomarker of ongoing metabolic bone disease of prematurity.
REFERENCE   5  (bases 1 to 2536)
  AUTHORS   Millan JL.
  TITLE     The role of phosphatases in the initiation of skeletal
            mineralization
  JOURNAL   Calcif Tissue Int 93 (4), 299-306 (2013)
   PUBMED   23183786
  REMARK    Review article
REFERENCE   6  (bases 1 to 2536)
  AUTHORS   Nunes,M.E.
  TITLE     Hypophosphatasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301329
REFERENCE   7  (bases 1 to 2536)
  AUTHORS   Nishihara Y, Hayashi Y, Adachi T, Koyama I, Stigbrand T and Hirano
            K.
  TITLE     Chemical nature of intestinal-type alkaline phosphatase in human
            kidney
  JOURNAL   Clin Chem 38 (12), 2539-2542 (1992)
   PUBMED   1458595
REFERENCE   8  (bases 1 to 2536)
  AUTHORS   Henthorn PS, Raducha M, Fedde KN, Lafferty MA and Whyte MP.
  TITLE     Different missense mutations at the tissue-nonspecific alkaline
            phosphatase gene locus in autosomal recessively inherited forms of
            mild and severe hypophosphatasia
  JOURNAL   Proc Natl Acad Sci U S A 89 (20), 9924-9928 (1992)
   PUBMED   1409720
REFERENCE   9  (bases 1 to 2536)
  AUTHORS   Fedde KN and Whyte MP.
  TITLE     Alkaline phosphatase (tissue-nonspecific isoenzyme) is a
            phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase:
            normal and hypophosphatasia fibroblast study
  JOURNAL   Am J Hum Genet 47 (5), 767-775 (1990)
   PUBMED   2220817
REFERENCE   10  (bases 1 to 2536)
  AUTHORS   Weiss,M.J., Henthorn,P.S., Lafferty,M.A., Slaughter,C., Raducha,M.
            and Harris,H.
  TITLE     Isolation and characterization of a cDNA encoding a human
            liver/bone/kidney-type alkaline phosphatase
  JOURNAL   Proc Natl Acad Sci U S A 83 (19), 7182-7186 (1986)
   PUBMED   3532105
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC021289.2, AB209814.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374840.8/ ENSP00000363973.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL592309.24 and AL359815.26.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000478.5.
            Summary: This gene encodes a member of the alkaline phosphatase
            family of proteins. There are at least four distinct but related
            alkaline phosphatases: intestinal, placental, placental-like, and
            liver/bone/kidney (tissue non-specific). The first three are
            located together on chromosome 2, while the tissue non-specific
            form is located on chromosome 1. The product of this gene is a
            membrane bound glycosylated enzyme that is not expressed in any
            particular tissue and is, therefore, referred to as the
            tissue-nonspecific form of the enzyme. Alternative splicing results
            in multiple transcript variants, at least one of which encodes a
            preproprotein that is proteolytically processed to generate the
            mature enzyme. This enzyme may play a role in bone mineralization.
            Mutations in this gene have been linked to hypophosphatasia, a
            disorder that is characterized by hypercalcemia and skeletal
            defects. [provided by RefSeq, Oct 2015].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2536
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     gene            1..2536
                     /gene="ALPL"
                     /gene_synonym="AP-TNAP; APTNAP; HOPS; HPPA; HPPC; HPPI;
                     HPPO; TNALP; TNAP; TNS-ALP; TNSALP"
                     /note="alkaline phosphatase, biomineralization associated"
                     /db_xref="GeneID:249"
                     /db_xref="HGNC:HGNC:438"
                     /db_xref="MIM:171760"
     CDS             200..1774
                     /gene="ALPL"
                     /gene_synonym="AP-TNAP; APTNAP; HOPS; HPPA; HPPC; HPPI;
                     HPPO; TNALP; TNAP; TNS-ALP; TNSALP"
                     /EC_number="3.1.3.1"
                     /EC_number="3.9.1.1"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; liver/bone/kidney-type alkaline phosphatase;
                     tissue-nonspecific ALP; alkaline phosphatase
                     liver/bone/kidney isozyme; alkaline phosphatase,
                     liver/bone/kidney; tissue non-specific alkaline
                     phosphatase; phosphoamidase; phosphocreatine phosphatase"
                     /codon_start=1
                     /product="alkaline phosphatase, tissue-nonspecific isozyme
                     isoform 1 preproprotein"
                     /protein_id="NP_000469.3"
                     /db_xref="CCDS:CCDS217.1"
                     /db_xref="GeneID:249"
                     /db_xref="HGNC:HGNC:438"
                     /db_xref="MIM:171760"
                     /translation="MISPFLVLAIGTCLTNSLVPEKEKDPKYWRDQAQETLKYALELQK
                     LNTNVAKNVIMFLGDGMGVSTVTAARILKGQLHHNPGEETRLEMDKFPFVALSKTYNTN
                     AQVPDSAGTATAYLCGVKANEGTVGVSAATERSRCNTTQGNEVTSILRWAKDAGKSVGI
                     VTTTRVNHATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHNIRDIDVIMGGG
                     RKYMYPKNKTDVEYESDEKARGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELLTLDPH
                     NVDYLLGLFEPGDMQYELNRNNVTDPSLSEMVVVAIQILRKNPKGFFLLVEGGRIDHGH
                     HEGKAKQALHEAVEMDRAIGQAGSLTSSEDTLTVVTADHSHVFTFGGYTPRGNSIFGLA
                     PMLSDTDKKPFTAILYGNGPGYKVVGGERENVSMVDYAHNNYQAQSAVPLRHETHGGED
                     VAVFSKGPMAHLLHGVHEQNYVPHVMAYAACIGANLGHCAPASSAGSLAAGPLLLALAL
                     YPLSVLF"
     sig_peptide     200..250
                     /gene="ALPL"
                     /gene_synonym="AP-TNAP; APTNAP; HOPS; HPPA; HPPC; HPPI;
                     HPPO; TNALP; TNAP; TNS-ALP; TNSALP"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     251..1702
                     /gene="ALPL"
                     /gene_synonym="AP-TNAP; APTNAP; HOPS; HPPA; HPPC; HPPI;
                     HPPO; TNALP; TNAP; TNS-ALP; TNSALP"
                     /product="Alkaline phosphatase, tissue-nonspecific isozyme.
                     /id=PRO_0000024023"
                     /note="propagated from UniProtKB/Swiss-Prot (P05186.4)"
     misc_feature    527..529
                     /gene="ALPL"
                     /gene_synonym="AP-TNAP; APTNAP; HOPS; HPPA; HPPC; HPPI;
                     HPPO; TNALP; TNAP; TNS-ALP; TNSALP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P09242; propagated from
                     UniProtKB/Swiss-Prot (P05186.4); phosphorylation site"
     misc_feature    617..619
                     /gene="ALPL"
                     /gene_synonym="AP-TNAP; APTNAP; HOPS; HPPA; HPPC; HPPI;
                     HPPO; TNALP; TNAP; TNS-ALP; TNSALP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P05186.4); glycosylation site"
     misc_feature    887..889
                     /gene="ALPL"
                     /gene_synonym="AP-TNAP; APTNAP; HOPS; HPPA; HPPC; HPPI;
                     HPPO; TNALP; TNAP; TNS-ALP; TNSALP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P05186.4); glycosylation site"
     misc_feature    1010..1012
                     /gene="ALPL"
                     /gene_synonym="AP-TNAP; APTNAP; HOPS; HPPA; HPPC; HPPI;
                     HPPO; TNALP; TNAP; TNS-ALP; TNSALP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P05186.4); glycosylation site"
     misc_feature    1106..1108
                     /gene="ALPL"
                     /gene_synonym="AP-TNAP; APTNAP; HOPS; HPPA; HPPC; HPPI;
                     HPPO; TNALP; TNAP; TNS-ALP; TNSALP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P05186.4); glycosylation site"
     misc_feature    1487..1489
                     /gene="ALPL"
                     /gene_synonym="AP-TNAP; APTNAP; HOPS; HPPA; HPPC; HPPI;
                     HPPO; TNALP; TNAP; TNS-ALP; TNSALP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P05186.4); glycosylation site"
     regulatory      2509..2514
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALPL"
                     /gene_synonym="AP-TNAP; APTNAP; HOPS; HPPA; HPPC; HPPI;
                     HPPO; TNALP; TNAP; TNS-ALP; TNSALP"
                     /note="hexamer: AATAAA"
     polyA_site      2536
                     /gene="ALPL"
                     /gene_synonym="AP-TNAP; APTNAP; HOPS; HPPA; HPPC; HPPI;
                     HPPO; TNALP; TNAP; TNS-ALP; TNSALP"
                     /note="major polyA site"
ORIGIN
        1 gccgcgttgc gctcccgcca ctccgcgccc gctatcctgg ctccgtgctc ccacgcgctt
       61 gtgcctggac ggaccctcgc cagtgctctg cgcaggattg gaacatcagt taacatctga
      121 ccactgccag cccaccccct cccacccacg tcgattgcat ctctgggctc cagggataaa
      181 gcaggtcttg gggtgcacca tgatttcacc attcttagta ctggccattg gcacctgcct
      241 tactaactcc ttagtgccag agaaagagaa agaccccaag tactggcgag accaagcgca
      301 agagacactg aaatatgccc tggagcttca gaagctcaac accaacgtgg ctaagaatgt
      361 catcatgttc ctgggagatg ggatgggtgt ctccacagtg acggctgccc gcatcctcaa
      421 gggtcagctc caccacaacc ctggggagga gaccaggctg gagatggaca agttcccctt
      481 cgtggccctc tccaagacgt acaacaccaa tgcccaggtc cctgacagtg ccggcaccgc
      541 caccgcctac ctgtgtgggg tgaaggccaa tgagggcacc gtgggggtaa gcgcagccac
      601 tgagcgttcc cggtgcaaca ccacccaggg gaacgaggtc acctccatcc tgcgctgggc
      661 caaggacgct gggaaatctg tgggcattgt gaccaccacg agagtgaacc atgccacccc
      721 cagcgccgcc tacgcccact cggctgaccg ggactggtac tcagacaacg agatgccccc
      781 tgaggccttg agccagggct gtaaggacat cgcctaccag ctcatgcata acatcaggga
      841 cattgacgtg atcatggggg gtggccggaa atacatgtac cccaagaata aaactgatgt
      901 ggagtatgag agtgacgaga aagccagggg cacgaggctg gacggcctgg acctcgttga
      961 cacctggaag agcttcaaac cgagatacaa gcactcccac ttcatctgga accgcacgga
     1021 actcctgacc cttgaccccc acaatgtgga ctacctattg ggtctcttcg agccagggga
     1081 catgcagtac gagctgaaca ggaacaacgt gacggacccg tcactctccg agatggtggt
     1141 ggtggccatc cagatcctgc ggaagaaccc caaaggcttc ttcttgctgg tggaaggagg
     1201 cagaattgac cacgggcacc atgaaggaaa agccaagcag gccctgcatg aggcggtgga
     1261 gatggaccgg gccatcgggc aggcaggcag cttgacctcc tcggaagaca ctctgaccgt
     1321 ggtcactgcg gaccattccc acgtcttcac atttggtgga tacacccccc gtggcaactc
     1381 tatctttggt ctggccccca tgctgagtga cacagacaag aagcccttca ctgccatcct
     1441 gtatggcaat gggcctggct acaaggtggt gggcggtgaa cgagagaatg tctccatggt
     1501 ggactatgct cacaacaact accaggcgca gtctgctgtg cccctgcgcc acgagaccca
     1561 cggcggggag gacgtggccg tcttctccaa gggccccatg gcgcacctgc tgcacggcgt
     1621 ccacgagcag aactacgtcc cccacgtgat ggcgtatgca gcctgcatcg gggccaacct
     1681 cggccactgt gctcctgcca gctcggcagg cagccttgct gcaggccccc tgctgctcgc
     1741 gctggccctc taccccctga gcgtcctgtt ctgagggccc agggcccggg cacccacaag
     1801 cccgtgacag atgccaactt cccacacggc agcccccccc tcaaggggca gggaggtggg
     1861 ggcctcctca gcctctgcaa ctgcaagaaa ggggacccaa gaaaccaaag tctgccgccc
     1921 acctcgctcc cctctggaat cttccccaag ggccaaaccc acttctggcc tccagccttt
     1981 gctccctccc cgctgccctt tggccaacag ggtagatttc tcttgggcag gcagagagta
     2041 cagactgcag acattctcaa agcctcttat ttttctagcg aacgtatttc tccagaccca
     2101 gaggccctga agcctccgtg gaacattctg gatctgaccc tcccagtctc atctcctgac
     2161 cctcccactc ccatctcctt acctctggaa ccccccaggc cctacaatgc tcatgtccct
     2221 gtccccaggc ccagccctcc ttcaggggag ttgaggtctt tctcctcagg acaaggcctt
     2281 gctcactcac tcactccaag accaccaggg tcccaggaag ccggtgcctg ggtggccatc
     2341 ctacccagcg tggcccaggc cgggaagagc cacctggcag ggctcacact cctgggctct
     2401 gaacacacac gccagctcct ctctgaagcg actctcctgt ttggaacggc aaaaaaaaat
     2461 ttttttttct ctttttggtg gtggttaaaa gggaacacaa aacatttaaa taaaactttc
     2521 caaatatttc cgagga
//
LOCUS       NM_000479               1809 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens anti-Mullerian hormone (AMH), mRNA.
ACCESSION   NM_000479
VERSION     NM_000479.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1809)
  AUTHORS   Fallahzadeh A, Ramezeni Tehrani F, Rezaee M, Mahboobifard F and
            Amiri M.
  TITLE     Anti-Mullerian hormone and cardiometabolic status: a systematic
            review
  JOURNAL   Biomarkers 28 (6), 486-501 (2023)
   PUBMED   37309096
  REMARK    GeneRIF: Anti-Mullerian hormone and cardiometabolic status: a
            systematic review. Review article
REFERENCE   2  (bases 1 to 1809)
  AUTHORS   Piltonen TT, Komsi E, Morin-Papunen LC, Korhonen E, Franks S,
            Jarvelin MR, Arffman RK and Ollila MM.
  TITLE     AMH as part of the diagnostic PCOS workup in large epidemiological
            studies
  JOURNAL   Eur J Endocrinol 188 (6), 547-554 (2023)
   PUBMED   37294941
  REMARK    GeneRIF: AMH as part of the diagnostic PCOS workup in large
            epidemiological studies.
REFERENCE   3  (bases 1 to 1809)
  AUTHORS   Bliddal S, Feldt-Rasmussen U, Forman JL, Hilsted LM, Larsen EC,
            Christiansen OB, Nielsen CH, Kolte AM and Nielsen HS.
  TITLE     Anti-Mullerian hormone and live birth in unexplained recurrent
            pregnancy loss
  JOURNAL   Reprod Biomed Online 46 (6), 995-1003 (2023)
   PUBMED   37055255
  REMARK    GeneRIF: Anti-Mullerian hormone and live birth in unexplained
            recurrent pregnancy loss.
REFERENCE   4  (bases 1 to 1809)
  AUTHORS   McLennan IS and Pankhurst MW.
  TITLE     Anti-Mullerian hormone is a gonadal cytokine with two circulating
            forms and cryptic actions
  JOURNAL   J Endocrinol 226 (3), R45-R57 (2015)
   PUBMED   26163524
  REMARK    Review article
REFERENCE   5  (bases 1 to 1809)
  AUTHORS   Carre-Eusebe D, Imbeaud S, Harbison M, New MI, Josso N and Picard
            JY.
  TITLE     Variants of the anti-Mullerian hormone gene in a compound
            heterozygote with the persistent Mullerian duct syndrome and his
            family
  JOURNAL   Hum Genet 90 (4), 389-394 (1992)
   PUBMED   1483695
REFERENCE   6  (bases 1 to 1809)
  AUTHORS   Whitman GF and Pantazis CG.
  TITLE     Cellular localization of mullerian inhibiting substance messenger
            ribonucleic acid during human ovarian follicular development
  JOURNAL   Am J Obstet Gynecol 165 (6 Pt 1), 1881-1886 (1991)
   PUBMED   1750488
REFERENCE   7  (bases 1 to 1809)
  AUTHORS   Knebelmann B, Boussin L, Guerrier D, Legeai L, Kahn A, Josso N and
            Picard JY.
  TITLE     Anti-Mullerian hormone Bruxelles: a nonsense mutation associated
            with the persistent Mullerian duct syndrome
  JOURNAL   Proc Natl Acad Sci U S A 88 (9), 3767-3771 (1991)
   PUBMED   2023927
REFERENCE   8  (bases 1 to 1809)
  AUTHORS   Guerrier D, Boussin L, Mader S, Josso N, Kahn A and Picard JY.
  TITLE     Expression of the gene for anti-Mullerian hormone
  JOURNAL   J Reprod Fertil 88 (2), 695-706 (1990)
   PUBMED   2325025
REFERENCE   9  (bases 1 to 1809)
  AUTHORS   Pepinsky RB, Sinclair LK, Chow EP, Mattaliano RJ, Manganaro TF,
            Donahoe PK and Cate RL.
  TITLE     Proteolytic processing of mullerian inhibiting substance produces a
            transforming growth factor-beta-like fragment
  JOURNAL   J Biol Chem 263 (35), 18961-18964 (1988)
   PUBMED   2974034
REFERENCE   10  (bases 1 to 1809)
  AUTHORS   Cate,R.L., Mattaliano,R.J., Hession,C., Tizard,R., Farber,N.M.,
            Cheung,A., Ninfa,E.G., Frey,A.Z., Gash,D.J., Chow,E.P. et al.
  TITLE     Isolation of the bovine and human genes for Mullerian inhibiting
            substance and expression of the human gene in animal cells
  JOURNAL   Cell 45 (5), 685-698 (1986)
   PUBMED   3754790
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC049194.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000221496.5/ ENSP00000221496.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005263.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000479.4.
            Summary: This gene encodes a secreted ligand of the TGF-beta
            (transforming growth factor-beta) superfamily of proteins. Ligands
            of this family bind various TGF-beta receptors leading to
            recruitment and activation of SMAD family transcription factors
            that regulate gene expression. The encoded preproprotein is
            proteolytically processed to generate N- and C-terminal cleavage
            products that homodimerize and associate to form a biologically
            active noncovalent complex. This complex binds to the
            anti-Mullerian hormone receptor type 2 and causes the regression of
            Mullerian ducts in the male embryo that would otherwise
            differentiate into the uterus and fallopian tubes. This protein
            also plays a role in Leydig cell differentiation and function and
            follicular development in adult females. Mutations in this gene
            result in persistent Mullerian duct syndrome. [provided by RefSeq,
            Jul 2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1809
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..1809
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /note="anti-Mullerian hormone"
                     /db_xref="GeneID:268"
                     /db_xref="HGNC:HGNC:464"
                     /db_xref="MIM:600957"
     misc_feature    1
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /note="major transcription initiation site"
     CDS             11..1693
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /note="Mullerian inhibiting factor; Mullerian inhibiting
                     substance; anti-Muellerian hormone; muellerian-inhibiting
                     substance; muellerian-inhibiting factor"
                     /codon_start=1
                     /product="muellerian-inhibiting factor preproprotein"
                     /protein_id="NP_000470.3"
                     /db_xref="CCDS:CCDS12085.1"
                     /db_xref="GeneID:268"
                     /db_xref="HGNC:HGNC:464"
                     /db_xref="MIM:600957"
                     /translation="MRDLPLTSLALVLSALGALLGTEALRAEEPAVGTSGLIFREDLDW
                     PPGSPQEPLCLVALGGDSNGSSSPLRVVGALSAYEQAFLGAVQRARWGPRDLATFGVCN
                     TGDRQAALPSLRRLGAWLRDPGGQRLVVLHLEEVTWEPTPSLRFQEPPPGGAGPPELAL
                     LVLYPGPGPEVTVTRAGLPGAQSLCPSRDTRYLVLAVDRPAGAWRGSGLALTLQPRGED
                     SRLSTARLQALLFGDDHRCFTRMTPALLLLPRSEPAPLPAHGQLDTVPFPPPRPSAELE
                     ESPPSADPFLETLTRLVRALRVPPARASAPRLALDPDALAGFPQGLVNLSDPAALERLL
                     DGEEPLLLLLRPTAATTGDPAPLHDPTSAPWATALARRVAAELQAAAAELRSLPGLPPA
                     TAPLLARLLALCPGGPGGLGDPLRALLLLKALQGLRVEWRGRDPRGPGRAQRSAGATAA
                     DGPCALRELSVDLRAERSVLIPETYQANNCQGVCGWPQSDRNPRYGNHVVLLLKMQVRG
                     AALARPPCCVPTAYAGKLLISLSEERISAHHVPNMVATECGCR"
     sig_peptide     11..82
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     proprotein      83..1690
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /product="ProAMH"
                     /experiment="EXISTENCE:protein separation followed by
                     direct sequencing evidence [ECO:0000158][PMID:2974034]"
     mat_peptide     83..1363
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /product="AMHN"
                     /experiment="EXISTENCE:protein separation followed by
                     direct sequencing evidence [ECO:0000158][PMID:2974034]"
                     /note="AMH N-terminal cleavage fragment"
     mat_peptide     1364..1690
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /product="AMHC"
                     /experiment="EXISTENCE:protein separation followed by
                     direct sequencing evidence[PMID:2974034]"
                     /note="AMH C-terminal cleavage fragment"
     regulatory      1786..1791
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /note="hexamer: AATAAA"
     polyA_site      1809
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /note="major polyA site"
ORIGIN
        1 agcacccacg atgcgggacc tgcctctcac cagcctggcc ctagtgctgt ctgccctggg
       61 ggctctgctg gggactgagg ccctcagagc agaggagcca gctgtgggca ccagtggcct
      121 catcttccga gaagacttgg actggcctcc aggcagccca caagagcctc tgtgcctggt
      181 ggcactgggc ggggacagca atggcagcag ctcccccctg cgggtggtgg gggctctaag
      241 cgcctatgag caggccttcc tgggggccgt gcagagggcc cgctggggcc cccgagacct
      301 ggccaccttc ggggtctgca acaccggtga caggcaggct gccttgccct ctctacggcg
      361 gctgggggcc tggctgcggg accctggggg gcagcgcctg gtggtcctac acctggagga
      421 agtgacctgg gagccaacac cctcgctgag gttccaggag cccccgcctg gaggagctgg
      481 ccccccagag ctggcgctgc tggtgctgta ccctgggcct ggccctgagg tcactgtgac
      541 gagggctggg ctgccgggtg cccagagcct ctgcccctcc cgagacaccc gctacctggt
      601 gttagcggtg gaccgccctg cgggggcctg gcgcggctcc gggctggcct tgaccctgca
      661 gccccgcgga gaggactccc ggctgagtac cgcccggctg caggcactgc tgttcggcga
      721 cgaccaccgc tgcttcacac ggatgacccc ggccctgctc ctgctgccgc ggtccgagcc
      781 cgcgccgctg cctgcgcacg gccagctgga caccgtgccc ttcccgccgc ccaggccatc
      841 cgcggaactc gaggagtcgc cacccagcgc agaccccttc ctggagacgc tcacgcgcct
      901 ggtgcgggcg ctgcgggtcc ccccggcccg ggcctccgcg ccgcgcctgg ccctggatcc
      961 ggacgcgctg gccggcttcc cgcagggcct agtcaacctg tcggaccccg cggcgctgga
     1021 gcgcctactc gacggcgagg agccgctgct gctgctgctg aggcccactg cggccaccac
     1081 cggggatcct gcgcccctgc acgaccccac gtcggcgccg tgggccacgg ccctggcgcg
     1141 ccgcgtggct gctgaactgc aagcggcggc tgccgagctg cgaagcctcc cgggtctgcc
     1201 tccggccaca gccccgctgc tggcgcgcct gctcgcgctc tgcccaggtg gccccggcgg
     1261 cctcggcgat cccctgcgag cgctgctgct cctgaaggcg ctgcagggcc tgcgcgtgga
     1321 gtggcgcggg cgggatccgc gcgggccggg tcgggcacag cgcagcgcgg gggccaccgc
     1381 cgccgacggg ccgtgcgcgc tgcgcgagct cagcgtagac ctccgcgccg agcgctccgt
     1441 actcatcccc gagacctacc aggccaacaa ttgccagggc gtgtgcggct ggcctcagtc
     1501 cgaccgcaac ccgcgctacg gcaaccacgt ggtgctgctg ctgaagatgc aggtccgtgg
     1561 ggccgccctg gcgcgcccac cctgctgcgt gcccaccgcc tacgcgggca agctgctcat
     1621 cagcctgtcg gaggagcgca tcagcgcgca ccacgtgccc aacatggtgg ccaccgagtg
     1681 tggctgccgg tgacccctgc gccgcgcgga ctcctgcccc gagggtccgg acgcgcccca
     1741 gctcgcgccc cttcccatat ttattcggac cccaagcatc gccccaataa agaccagcaa
     1801 gcaaccggc
//
LOCUS       NM_000481               1997 bp    mRNA    linear   PRI 02-JUN-2023
DEFINITION  Homo sapiens aminomethyltransferase (AMT), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000481
VERSION     NM_000481.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1997)
  AUTHORS   Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T,
            Rodriguez-Pombo P, Vaisanen ML, Spector E, Creadon-Swindell G,
            Bras-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G,
            Bravo-Alonso I, Perez-Cerda C, Ugarte M, Vianey-Saban C, Scharer GH
            and Van Hove JL.
  TITLE     The genetic basis of classic nonketotic hyperglycinemia due to
            mutations in GLDC and AMT
  JOURNAL   Genet Med 19 (1), 104-111 (2017)
   PUBMED   27362913
  REMARK    GeneRIF: The position and frequency of the breakpoint for CNVs
            correlated with intron size and presence of Alu elements. Missense
            mutations, most often recurring, were the most common type of
            disease-causing mutation in AMT Erratum:[Genet Med. 2018 Jan 04;:.
            PMID: 29300369]
REFERENCE   2  (bases 1 to 1997)
  AUTHORS   Azize NA, Ngah WZ, Othman Z, Md Desa N, Chin CB, Md Yunus Z, Mohan
            A, Hean TS, Syed Zakaria SZ and Lock-Hock N.
  TITLE     Mutation analysis of glycine decarboxylase, aminomethyltransferase
            and glycine cleavage system protein-H genes in 13 unrelated families
            with glycine encephalopathy
  JOURNAL   J Hum Genet 59 (11), 593-597 (2014)
   PUBMED   25231368
  REMARK    GeneRIF: Data indicate no mutation was found in glycine cleavage
            system protein-H (GCSH) and suggest that mutations in both glycine
            decarboxylase (GLDC) and aminomethyltransferase (AMT) are the main
            cause of glycine encephalopathy in Malaysian population.
REFERENCE   3  (bases 1 to 1997)
  AUTHORS   Narisawa A, Komatsuzaki S, Kikuchi A, Niihori T, Aoki Y, Fujiwara K,
            Tanemura M, Hata A, Suzuki Y, Relton CL, Grinham J, Leung KY,
            Partridge D, Robinson A, Stone V, Gustavsson P, Stanier P, Copp AJ,
            Greene ND, Tominaga T, Matsubara Y and Kure S.
  TITLE     Mutations in genes encoding the glycine cleavage system predispose
            to neural tube defects in mice and humans
  JOURNAL   Hum Mol Genet 21 (7), 1496-1503 (2012)
   PUBMED   22171071
  REMARK    GeneRIF: Two unique non-synonymous changes were identified in the
            AMT gene in patients with neural tube defects.
REFERENCE   4  (bases 1 to 1997)
  AUTHORS   Kure S, Mandel H, Rolland MO, Sakata Y, Shinka T, Drugan A, Boneh A,
            Tada K, Matsubara Y and Narisawa K.
  TITLE     A missense mutation (His42Arg) in the T-protein gene from a large
            Israeli-Arab kindred with nonketotic hyperglycinemia
  JOURNAL   Hum Genet 102 (4), 430-434 (1998)
   PUBMED   9600239
REFERENCE   5  (bases 1 to 1997)
  AUTHORS   Nanao K, Okamura-Ikeda K, Motokawa Y, Danks DM, Baumgartner ER,
            Takada G and Hayasaka K.
  TITLE     Identification of the mutations in the T-protein gene causing
            typical and atypical nonketotic hyperglycinemia
  JOURNAL   Hum Genet 93 (6), 655-658 (1994)
   PUBMED   8005589
REFERENCE   6  (bases 1 to 1997)
  AUTHORS   Nanao K, Takada G, Takahashi E, Seki N, Komatsu Y, Okamura-Ikeda K,
            Motokawa Y and Hayasaka K.
  TITLE     Structure and chromosomal localization of the aminomethyltransferase
            gene (AMT)
  JOURNAL   Genomics 19 (1), 27-30 (1994)
   PUBMED   8188235
  REMARK    Erratum:[Genomics 1994 Apr;20(3):519]
REFERENCE   7  (bases 1 to 1997)
  AUTHORS   Hayasaka K, Nanao K, Takada G, Okamura-Ikeda K and Motokawa Y.
  TITLE     Isolation and sequence determination of cDNA encoding human
            T-protein of the glycine cleavage system
  JOURNAL   Biochem Biophys Res Commun 192 (2), 766-771 (1993)
   PUBMED   7916605
REFERENCE   8  (bases 1 to 1997)
  AUTHORS   Van Hove,J.L.K., Coughlin,C. II, Swanson,M. and Hennermann,J.B.
  TITLE     Nonketotic Hyperglycinemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301531
REFERENCE   9  (bases 1 to 1997)
  AUTHORS   Kume A, Koyata H, Sakakibara T, Ishiguro Y, Kure S and Hiraga K.
  TITLE     The glycine cleavage system. Molecular cloning of the chicken and
            human glycine decarboxylase cDNAs and some characteristics involved
            in the deduced protein structures
  JOURNAL   J Biol Chem 266 (5), 3323-3329 (1991)
   PUBMED   1993704
REFERENCE   10  (bases 1 to 1997)
  AUTHORS   Hiraga,K., Kochi,H., Hayasaka,K., Kikuchi,G. and Nyhan,W.L.
  TITLE     Defective glycine cleavage system in nonketotic hyperglycinemia.
            Occurrence of a less active glycine decarboxylase and an abnormal
            aminomethyl carrier protein
  JOURNAL   J Clin Invest 68 (2), 525-534 (1981)
   PUBMED   6790577
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: D13811.1, BC094771.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000273588.9/ ENSP00000273588.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D13811.1 and GD148179.1.
            On Aug 31, 2019 this sequence version replaced NM_000481.3.
            Summary: This gene encodes one of four critical components of the
            glycine cleavage system. Mutations in this gene have been
            associated with glycine encephalopathy. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Sep 2011].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest protein (isoform 1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1997
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1997
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /note="aminomethyltransferase"
                     /db_xref="GeneID:275"
                     /db_xref="HGNC:HGNC:473"
                     /db_xref="MIM:238310"
     CDS             24..1235
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /EC_number="2.1.2.10"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; aminomethyltransferase, mitochondrial; glycine cleavage
                     system T protein; nonketotic hyperglycinemia"
                     /codon_start=1
                     /product="aminomethyltransferase, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_000472.2"
                     /db_xref="CCDS:CCDS2797.1"
                     /db_xref="GeneID:275"
                     /db_xref="HGNC:HGNC:473"
                     /db_xref="MIM:238310"
                     /translation="MQRAVSVVARLGFRLQAFPPALCRPLSCAQEVLRRTPLYDFHLAH
                     GGKMVAFAGWSLPVQYRDSHTDSHLHTRQHCSLFDVSHMLQTKILGSDRVKLMESLVVG
                     DIAELRPNQGTLSLFTNEAGGILDDLIVTNTSEGHLYVVSNAGCWEKDLALMQDKVREL
                     QNQGRDVGLEVLDNALLALQGPTAAQVLQAGVADDLRKLPFMTSAVMEVFGVSGCRVTR
                     CGYTGEDGVEISVPVAGAVHLATAILKNPEVKLAGLAARDSLRLEAGLCLYGNDIDEHT
                     TPVEGSLSWTLGKRRRAAMDFPGAKVIVPQLKGRVQRRRVGLMCEGAPMRAHSPILNME
                     GTKIGTVTSGCPSPSLKKNVAMGYVPCEYSRPGTMLLVEVRRKQQMAVVSKMPFVPTNY
                     YTLK"
     regulatory      1974..1979
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /note="hexamer: ATTAAA"
     polyA_site      1997
                     /gene="AMT"
                     /gene_synonym="GCE; GCE2; GCST; GCVT; NKH"
                     /note="major polyA site"
ORIGIN
        1 gtctgcactc gttgcaggcg acgatgcaga gggctgtaag tgtggtggcc cgtctgggct
       61 ttcgcctgca ggcattcccc ccggccttgt gtcgtccact tagttgcgca caggaggtgc
      121 tccgcaggac accgctctat gacttccacc tggcccacgg cgggaaaatg gtggcgtttg
      181 cgggttggag tctgccagtg cagtaccggg acagtcacac tgactcgcac ctgcacacac
      241 gccagcactg ctcgctcttt gacgtgtctc atatgctgca gaccaagata cttggtagtg
      301 accgggtgaa gctgatggag agtctagtgg ttggagacat tgcagagcta agaccaaacc
      361 aggggacact gtcgctgttt accaacgagg ctggaggcat cttagatgac ttgattgtaa
      421 ccaatacttc tgagggccac ctgtatgtgg tgtccaacgc tggctgctgg gagaaagatt
      481 tggccctcat gcaggacaag gtcagggagc ttcagaacca gggcagagat gtgggcctgg
      541 aggtgttgga taatgccctg ctagctctgc aaggccccac tgcagcccag gtactacagg
      601 ccggcgtggc agatgacctg aggaaactgc ccttcatgac cagtgctgtg atggaggtgt
      661 ttggcgtgtc tggctgccgc gtgacccgct gtggctacac aggagaggat ggtgtggaga
      721 tctcggtgcc ggtagcgggg gcagttcacc tggcaacagc tattctgaaa aacccagagg
      781 tgaagctggc agggctggca gccagggaca gcctgcgcct ggaggcaggc ctctgcctgt
      841 atgggaatga cattgatgaa cacactacac ctgtggaggg cagcctcagt tggacactgg
      901 ggaagcgccg ccgagctgct atggacttcc ctggagccaa ggtcattgtt ccccagctga
      961 agggcagggt gcagcggagg cgtgtggggt tgatgtgtga gggggccccc atgcgggcac
     1021 acagtcccat cctgaacatg gagggtacca agattggtac tgtgactagt ggctgcccct
     1081 ccccctctct gaagaagaat gtggcgatgg gttatgtgcc ctgcgagtac agtcgtccag
     1141 ggacaatgct gctggtagag gtgcggcgga agcagcagat ggctgtagtc agcaagatgc
     1201 cctttgtgcc cacaaactac tataccctca agtgaagctg gctcagggtg gggctgtccc
     1261 ttccaggagt tttgccccta caaggggtta gtcaagaagc tgaggcagaa ctcactgggg
     1321 gtgggcagtt aaggtggagg ctgattctaa ttgtctggtt gaggggccac accacctatt
     1381 ccccccacct aactcatgcc attccagctt ccttcaggac cctgcttctg agtgacggac
     1441 cagctcacac aatgtcttgt ttcagtccat gatcccactg acctactctt gcctgctgga
     1501 gggtaatgag aagctttggt tctgccatct ctcccactct gccaggtgct ggctgtggag
     1561 caaaggctca cctttgtgga gaggataaaa cctgcccaac ctacctcacc atggtttttc
     1621 acattgcaaa gggtaataac atgggcagtg cggacttagg ctaccccctc cagtttgctt
     1681 tccgtaaatg caaattgtcc ttactgcaag tcaggaatga ttgctgactc acagtagggc
     1741 tgctatgcct gtgtgtaaac ttggggatgg ctgagggaac atagactcac tcttccacat
     1801 tcccaagttg gtctagtgtg ctgcccagta gcaaaccatg gcagactcac cacctattct
     1861 gagttccagg gctgctgtag ggcagggtgg gcttcctccc agacttgcct taccctgggc
     1921 tgatctttgc ccctggtatg cattaatgga ctccactgaa tcctgaaaaa aaaattaaac
     1981 ttccttctta cttgcca
//
LOCUS       NM_000482               1471 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens apolipoprotein A4 (APOA4), mRNA.
ACCESSION   NM_000482
VERSION     NM_000482.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1471)
  AUTHORS   Andraski AB, Singh SA, Higashi H, Lee LH, Aikawa M and Sacks FM.
  TITLE     The distinct metabolism between large and small HDL indicates unique
            origins of human apolipoprotein A4
  JOURNAL   JCI Insight 8 (8), e162481 (2023)
   PUBMED   37092549
  REMARK    GeneRIF: The distinct metabolism between large and small HDL
            indicates unique origins of human apolipoprotein A4. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1471)
  AUTHORS   Ji J, Zhao X, Huang J, Wu X, Xie F, Li L, Wang T and Mi S.
  TITLE     Apolipoprotein A-IV of diabetic-foot patients upregulates tumor
            necrosis factor alpha expression in microfluidic arterial models
  JOURNAL   Exp Biol Med (Maywood) 248 (8), 691-701 (2023)
   PUBMED   36775868
  REMARK    GeneRIF: Apolipoprotein A-IV of diabetic-foot patients upregulates
            tumor necrosis factor alpha expression in microfluidic arterial
            models.
REFERENCE   3  (bases 1 to 1471)
  AUTHORS   Li WH, Zhang L, Li YY, Wang XY, Li JL, Zhao SN, Ni MQ, Li Q and Sun
            H.
  TITLE     Apolipoprotein A-IV Has Bi-Functional Actions in Alcoholic Hepatitis
            by Regulating Hepatocyte Injury and Immune Cell Infiltration
  JOURNAL   Int J Mol Sci 24 (1), 670 (2022)
   PUBMED   36614113
  REMARK    GeneRIF: Apolipoprotein A-IV Has Bi-Functional Actions in Alcoholic
            Hepatitis by Regulating Hepatocyte Injury and Immune Cell
            Infiltration. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1471)
  AUTHORS   Li LY, Chen S, Wang YX, Ji R, Ding FH, Wang XQ, Chen QJ, Lu L and
            Dai Y.
  TITLE     Serum apolipoprotein A-IV levels are associated with flow-mediated
            dilation in patients with type 2 diabetes mellitus
  JOURNAL   BMC Cardiovasc Disord 22 (1), 446 (2022)
   PUBMED   36284290
  REMARK    GeneRIF: Serum apolipoprotein A-IV levels are associated with
            flow-mediated dilation in patients with type 2 diabetes mellitus.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1471)
  AUTHORS   Shao B, Mathew AV, Thornock C and Pennathur S.
  CONSRTM   Michigan Kidney Translational Core CPROBE Investigator Group
  TITLE     Altered HDL proteome predicts incident CVD in chronic kidney disease
            patients
  JOURNAL   J Lipid Res 62, 100135 (2021)
   PUBMED   34634315
  REMARK    GeneRIF: Altered HDL proteome predicts incident CVD in chronic
            kidney disease patients.
REFERENCE   6  (bases 1 to 1471)
  AUTHORS   von Eckardstein A, Funke H, Schulte M, Erren M, Schulte H and
            Assmann G.
  TITLE     Nonsynonymous polymorphic sites in the apolipoprotein (apo) A-IV
            gene are associated with changes in the concentration of apo B- and
            apo A-I-containing lipoproteins in a normal population
  JOURNAL   Am J Hum Genet 50 (5), 1115-1128 (1992)
   PUBMED   1349197
REFERENCE   7  (bases 1 to 1471)
  AUTHORS   Tenkanen H, Koskinen P, Metso J, Baumann M, Lukka M,
            Kauppinen-Makelin R, Kontula K, Taskinen MR, Manttari M, Manninen V
            et al.
  TITLE     A novel polymorphism of apolipoprotein A-IV is the result of an
            asparagine to serine substitution at residue 127
  JOURNAL   Biochim Biophys Acta 1138 (1), 27-33 (1992)
   PUBMED   1737067
REFERENCE   8  (bases 1 to 1471)
  AUTHORS   Kamboh MI, Williams ER, Law JC, Aston CE, Bunker CH, Ferrell RE and
            Pollitzer WS.
  TITLE     Molecular basis of a unique African variant (A-IV 5) of human
            apolipoprotein A-IV and its significance in lipid metabolism
  JOURNAL   Genet Epidemiol 9 (6), 379-388 (1992)
   PUBMED   1487136
REFERENCE   9  (bases 1 to 1471)
  AUTHORS   Duverger N, Murry-Brelier A, Latta M, Reboul S, Castro G, Mayaux JF,
            Fruchart JC, Taylor JM, Steinmetz A and Denefle P.
  TITLE     Functional characterization of human recombinant apolipoprotein AIV
            produced in Escherichia coli
  JOURNAL   Eur J Biochem 201 (2), 373-383 (1991)
   PUBMED   1935934
REFERENCE   10  (bases 1 to 1471)
  AUTHORS   Lohse P, Kindt MR, Rader DJ and Brewer HB Jr.
  TITLE     Three genetic variants of human plasma apolipoprotein A-IV.
            apoA-IV-1(Thr347----Ser), apoA-IV-0(Lys167----Glu,Gln360----His),
            and apoA-IV-3(Glu165----Lys)
  JOURNAL   J Biol Chem 266 (21), 13513-13518 (1991)
   PUBMED   1677358
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.60539.1,
            SRR5189664.98251.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144835,
            SAMEA2152474 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000357780.5/ ENSP00000350425.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP006216.1 and AL531739.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000482.3.
            Summary: Apoliprotein (apo) A-IV gene contains 3 exons separated by
            two introns. A sequence polymorphism has been identified in the
            3'UTR of the third exon.  The primary translation product is a
            396-residue preprotein which after proteolytic processing is
            secreted its primary site of synthesis, the intestine, in
            association with chylomicron particles.  Although its precise
            function is not known, apo A-IV is a potent activator of
            lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq,
            Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1471
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..1471
                     /gene="APOA4"
                     /note="apolipoprotein A4"
                     /db_xref="GeneID:337"
                     /db_xref="HGNC:HGNC:602"
                     /db_xref="MIM:107690"
     misc_feature    21..23
                     /gene="APOA4"
                     /note="upstream in-frame stop codon"
     CDS             114..1304
                     /gene="APOA4"
                     /note="apo-AIV; apoA-IV; apolipoprotein A-IV"
                     /codon_start=1
                     /product="apolipoprotein A-IV precursor"
                     /protein_id="NP_000473.2"
                     /db_xref="CCDS:CCDS31681.1"
                     /db_xref="GeneID:337"
                     /db_xref="HGNC:HGNC:602"
                     /db_xref="MIM:107690"
                     /translation="MFLKAVVLTLALVAVAGARAEVSADQVATVMWDYFSQLSNNAKEA
                     VEHLQKSELTQQLNALFQDKLGEVNTYAGDLQKKLVPFATELHERLAKDSEKLKEEIGK
                     ELEELRARLLPHANEVSQKIGDNLRELQQRLEPYADQLRTQVSTQAEQLRRQLTPYAQR
                     MERVLRENADSLQASLRPHADELKAKIDQNVEELKGRLTPYADEFKVKIDQTVEELRRS
                     LAPYAQDTQEKLNHQLEGLTFQMKKNAEELKARISASAEELRQRLAPLAEDVRGNLRGN
                     TEGLQKSLAELGGHLDQQVEEFRRRVEPYGENFNKALVQQMEQLRQKLGPHAGDVEGHL
                     SFLEKDLRDKVNSFFSTFKEKESQDKTLSLPELEQQQEQQQEQQQEQVQMLAPLES"
     sig_peptide     114..173
                     /gene="APOA4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     174..1301
                     /gene="APOA4"
                     /product="apolipoprotein A-IV"
     misc_feature    210..1103
                     /gene="APOA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P06727.4);
                     Region: 13 X 22 AA approximate tandem repeats"
     misc_feature    1194..1301
                     /gene="APOA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P06727.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1444..1449
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOA4"
                     /note="hexamer: AATAAA"
     polyA_site      1471
                     /gene="APOA4"
                     /note="major polyA site"
ORIGIN
        1 agttcccact gcagcgcagg tgagctctcc tgaggacctc tctgtcagct cccctgattg
       61 tagggaggat ccagtgtggc aagaaactcc tccagcccag caagcagctc aggatgttcc
      121 tgaaggccgt ggtcctgacc ctggccctgg tggctgtcgc cggagccagg gctgaggtca
      181 gtgctgacca ggtggccacg gtgatgtggg actacttcag ccagctgagc aacaatgcca
      241 aggaggccgt ggaacatctc cagaaatctg aactcaccca gcaactcaat gccctcttcc
      301 aggacaaact tggagaagtg aacacttacg caggtgacct gcagaagaag ctggtgccct
      361 ttgccaccga gctgcatgaa cgcctggcca aggactcgga gaaactgaag gaggagattg
      421 ggaaggagct ggaggagctg agggcccggc tgctgcccca tgccaatgag gtgagccaga
      481 agatcgggga caacctgcga gagcttcagc agcgcctgga gccctacgcg gaccagctgc
      541 gcacccaggt cagcacgcag gccgagcagc tgcggcgcca gctgaccccc tacgcacagc
      601 gcatggagag agtgctgcgg gagaacgccg acagcctgca ggcctcgctg aggccccacg
      661 ccgacgagct caaggccaag atcgaccaga acgtggagga gctcaaggga cgccttacgc
      721 cctacgctga cgaattcaaa gtcaagattg accagaccgt ggaggagctg cgccgcagcc
      781 tggctcccta tgctcaggac acgcaggaga agctcaacca ccagcttgag ggcctgacct
      841 tccagatgaa gaagaacgcc gaggagctca aggccaggat ctcggccagt gccgaggagc
      901 tgcggcagag gctggcgccc ttggccgagg acgtgcgtgg caacctgagg ggcaacaccg
      961 aggggctgca gaagtcactg gcagagctgg gtgggcacct ggaccagcag gtggaggagt
     1021 tccgacgccg ggtggagccc tacggggaaa acttcaacaa agccctggtg cagcagatgg
     1081 aacagctcag gcagaaactg ggcccccatg cgggggacgt ggaaggccac ttgagcttcc
     1141 tggagaagga cctgagggac aaggtcaact ccttcttcag caccttcaag gagaaagaga
     1201 gccaggacaa gactctctcc ctccctgagc tggagcaaca gcaggaacag cagcaggagc
     1261 agcagcagga gcaggtgcag atgctggccc ctttggagag ctgagctgcc cctggtgcac
     1321 tggccccacc ctcgtggaca cctgccctgc cctgccacct gtctgtctgt ctgtcccaaa
     1381 gaagttctgg tatgaacttg aggacacatg tccagtggga ggtgagacca cctctcaata
     1441 ttcaataaag ctgctgagaa tctagcctca a
//
LOCUS       NM_000483                660 bp    mRNA    linear   PRI 13-JUL-2023
DEFINITION  Homo sapiens apolipoprotein C2 (APOC2), mRNA.
ACCESSION   NM_000483
VERSION     NM_000483.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 660)
  AUTHORS   Silbernagel G, Chen YQ, Rief M, Kleber ME, Hoffmann MM, Stojakovic
            T, Stang A, Sarzynski MA, Bouchard C, Marz W, Qian YW, Scharnagl H
            and Konrad RJ.
  TITLE     Inverse association between apolipoprotein C-II and cardiovascular
            mortality: role of lipoprotein lipase activity modulation
  JOURNAL   Eur Heart J 44 (25), 2335-2345 (2023)
   PUBMED   37155355
  REMARK    GeneRIF: Inverse association between apolipoprotein C-II and
            cardiovascular mortality: role of lipoprotein lipase activity
            modulation.
REFERENCE   2  (bases 1 to 660)
  AUTHORS   Allan CM, Walker D, Segrest JP and Taylor JM.
  TITLE     Identification and characterization of a new human gene (APOC4) in
            the apolipoprotein E, C-I, and C-II gene locus
  JOURNAL   Genomics 28 (2), 291-300 (1995)
   PUBMED   8530039
  REMARK    GeneRIF: Includes the observation of APOC4-APOC2 read-through
            transcription
REFERENCE   3  (bases 1 to 660)
  AUTHORS   Das,H.K., Jackson,C.L., Miller,D.A., Leff,T. and Breslow,J.L.
  TITLE     The human apolipoprotein C-II gene sequence contains a novel
            chromosome 19-specific minisatellite in its third intron
  JOURNAL   J Biol Chem 262 (10), 4787-4793 (1987)
   PUBMED   3558370
REFERENCE   4  (bases 1 to 660)
  AUTHORS   Fojo,S.S., Law,S.W. and Brewer,H.B. Jr.
  TITLE     The human preproapolipoprotein C-II gene. Complete nucleic acid
            sequence and genomic organization
  JOURNAL   FEBS Lett 213 (1), 221-226 (1987)
   PUBMED   3030808
REFERENCE   5  (bases 1 to 660)
  AUTHORS   Fojo,S.S., Taam,L., Fairwell,T., Ronan,R., Bishop,C., Meng,M.S.,
            Hoeg,J.M., Sprecher,D.L. and Brewer,H.B. Jr.
  TITLE     Human preproapolipoprotein C-II. Analysis of major plasma isoforms
  JOURNAL   J Biol Chem 261 (21), 9591-9594 (1986)
   PUBMED   3525527
REFERENCE   6  (bases 1 to 660)
  AUTHORS   Wei,C.F., Tsao,Y.K., Robberson,D.L., Gotto,A.M. Jr., Brown,K. and
            Chan,L.
  TITLE     The structure of the human apolipoprotein C-II gene. Electron
            microscopic analysis of RNA:DNA hybrids, complete nucleotide
            sequence, and identification of 5' homologous sequences among
            apolipoprotein genes
  JOURNAL   J Biol Chem 260 (28), 15211-15221 (1985)
   PUBMED   2415514
  REMARK    Erratum:[J Biol Chem 1986 Mar 15;261(8):3910]
REFERENCE   7  (bases 1 to 660)
  AUTHORS   Fojo,S.S., Law,S.W. and Brewer,H.B. Jr.
  TITLE     Human apolipoprotein C-II: complete nucleic acid sequence of
            preapolipoprotein C-II
  JOURNAL   Proc Natl Acad Sci U S A 81 (20), 6354-6357 (1984)
   PUBMED   6593704
REFERENCE   8  (bases 1 to 660)
  AUTHORS   Jackson,C.L., Bruns,G.A. and Breslow,J.L.
  TITLE     Isolation and sequence of a human apolipoprotein CII cDNA clone and
            its use to isolate and map to human chromosome 19 the gene for
            apolipoprotein CII
  JOURNAL   Proc Natl Acad Sci U S A 81 (10), 2945-2949 (1984)
   PUBMED   6328478
REFERENCE   9  (bases 1 to 660)
  AUTHORS   Myklebost,O., Williamson,B., Markham,A.F., Myklebost,S.R.,
            Rogers,J., Woods,D.E. and Humphries,S.E.
  TITLE     The isolation and characterization of cDNA clones for human
            apolipoprotein CII
  JOURNAL   J Biol Chem 259 (7), 4401-4404 (1984)
   PUBMED   6546757
REFERENCE   10  (bases 1 to 660)
  AUTHORS   Jackson,R.L., Baker,H.N., Gilliam,E.B. and Gotto,A.M. Jr.
  TITLE     Primary structure of very low density apolipoprotein C-II of human
            plasma
  JOURNAL   Proc Natl Acad Sci U S A 74 (5), 1942-1945 (1977)
   PUBMED   194244
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DRR138522.323648.1,
            DRR138522.1680542.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000252490.7/ ENSP00000252490.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU596546.1 and AA883870.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000483.4.
            Summary: This gene encodes a lipid-binding protein belonging to the
            apolipoprotein gene family. The protein is secreted in plasma where
            it is a component of very low density lipoprotein. This protein
            activates the enzyme lipoprotein lipase, which hydrolyzes
            triglycerides and thus provides free fatty acids for cells.
            Mutations in this gene cause hyperlipoproteinemia type IB,
            characterized by hypertriglyceridemia, xanthomas, and increased
            risk of pancreatitis and early atherosclerosis. This gene is
            present in a cluster with other related apolipoprotein genes on
            chromosome 19. Naturally occurring read-through transcription
            exists between this gene and the neighboring upstream
            apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..660
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..660
                     /gene="APOC2"
                     /gene_synonym="APO-CII; APOC-II"
                     /note="apolipoprotein C2"
                     /db_xref="GeneID:344"
                     /db_xref="HGNC:HGNC:609"
                     /db_xref="MIM:608083"
     misc_feature    1
                     /gene="APOC2"
                     /gene_synonym="APO-CII; APOC-II"
                     /note="alternative transcription start site, PMIDs:2415514
                     and 3030808"
     misc_feature    3..5
                     /gene="APOC2"
                     /gene_synonym="APO-CII; APOC-II"
                     /note="upstream in-frame stop codon"
     CDS             39..344
                     /gene="APOC2"
                     /gene_synonym="APO-CII; APOC-II"
                     /note="apolipoprotein C-II"
                     /codon_start=1
                     /product="apolipoprotein C-II precursor"
                     /protein_id="NP_000474.2"
                     /db_xref="CCDS:CCDS12650.1"
                     /db_xref="GeneID:344"
                     /db_xref="HGNC:HGNC:609"
                     /db_xref="MIM:608083"
                     /translation="MGTRLLPALFLVLLVLGFEVQGTQQPQQDEMPSPTFLTQVKESLS
                     SYWESAKTAAQNLYEKTYLPAVDEKLRDLYSKSTAAMSTYTGIFTDQVLSVLKGEE"
     sig_peptide     39..104
                     /gene="APOC2"
                     /gene_synonym="APO-CII; APOC-II"
                     /note="/evidence=ECO:0000269|PubMed:194244,
                     ECO:0000269|PubMed:6706938; propagated from
                     UniProtKB/Swiss-Prot (P02655.1)"
     mat_peptide     105..341
                     /gene="APOC2"
                     /gene_synonym="APO-CII; APOC-II"
                     /product="Proapolipoprotein C-II.
                     /evidence=ECO:0000269|PubMed:194244,
                     ECO:0000269|PubMed:6706938. /id=PRO_0000002024"
                     /note="propagated from UniProtKB/Swiss-Prot (P02655.1)"
     misc_feature    105..152
                     /gene="APOC2"
                     /gene_synonym="APO-CII; APOC-II"
                     /note="propagated from UniProtKB/Swiss-Prot (P02655.1);
                     Region: O-glycosylated at one site"
     mat_peptide     123..341
                     /gene="APOC2"
                     /gene_synonym="APO-CII; APOC-II"
                     /product="Apolipoprotein C-II.
                     /evidence=ECO:0000305|PubMed:3525527. /id=PRO_0000430839"
                     /note="propagated from UniProtKB/Swiss-Prot (P02655.1)"
     misc_feature    234..260
                     /gene="APOC2"
                     /gene_synonym="APO-CII; APOC-II"
                     /note="propagated from UniProtKB/Swiss-Prot (P02655.1);
                     Region: Lipid binding.
                     /evidence=ECO:0000269|PubMed:6772077"
     misc_feature    270..341
                     /gene="APOC2"
                     /gene_synonym="APO-CII; APOC-II"
                     /note="propagated from UniProtKB/Swiss-Prot (P02655.1);
                     Region: Lipoprotein lipase cofactor.
                     /evidence=ECO:0000269|PubMed:1555583,
                     ECO:0000269|PubMed:6772077"
     regulatory      472..477
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOC2"
                     /gene_synonym="APO-CII; APOC-II"
                     /note="hexamer: AATAAA"
     polyA_site      490
                     /gene="APOC2"
                     /gene_synonym="APO-CII; APOC-II"
                     /note="major polyA site"
     regulatory      644..649
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APOC2"
                     /gene_synonym="APO-CII; APOC-II"
                     /note="hexamer: AATAAT"
     polyA_site      660
                     /gene="APOC2"
                     /gene_synonym="APO-CII; APOC-II"
                     /note="major polyA site"
ORIGIN
        1 ggtgaggaca gcctgccaga gtctggtctc tggacactat gggcacacga ctcctcccag
       61 ctctgtttct tgtcctcctg gtattgggat ttgaggtcca ggggacccaa cagccccagc
      121 aagatgagat gcctagcccg accttcctca cccaggtgaa ggaatctctc tccagttact
      181 gggagtcagc aaagacagcc gcccagaacc tgtacgagaa gacatacctg cccgctgtag
      241 atgagaaact cagggacttg tacagcaaaa gcacagcagc catgagcact tacacaggca
      301 tttttactga ccaagttctt tctgtgctga agggagagga gtaacagcca gaccccccat
      361 cagtggacaa ggggagagtc ccctactccc ctgatccccc aggttcagac tgagctcccc
      421 cttcccagta gctcttgcat cctcctccca actctagcct gaattctttt caataaaaaa
      481 tacaattcaa gttgcttctc atggatggca ctgcttttct gaggactcaa gggccaagat
      541 ggaggggctg actcagtcca gccaacattt aatgagcacc tactttatgt atggagctct
      601 aacccatggg tccatgggaa taaagcagtg aatagtaaca ataaataatc gtaacagcaa
//
LOCUS       NM_000484               3583 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens amyloid beta precursor protein (APP), transcript
            variant 1, mRNA.
ACCESSION   NM_000484
VERSION     NM_000484.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3583)
  AUTHORS   van Heusden FC, van Nifterick AM, Souza BC, Franca ASC, Nauta IM,
            Stam CJ, Scheltens P, Smit AB, Gouw AA and van Kesteren RE.
  TITLE     Neurophysiological alterations in mice and humans carrying mutations
            in APP and PSEN1 genes
  JOURNAL   Alzheimers Res Ther 15 (1), 142 (2023)
   PUBMED   37608393
  REMARK    GeneRIF: Neurophysiological alterations in mice and humans carrying
            mutations in APP and PSEN1 genes. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3583)
  AUTHORS   Toniolo S, Di Lorenzo F, Bernardini S, Mercuri NB and Sancesario GM.
  TITLE     Blood-Brain Barrier Dysfunction and Abeta42/40 Ratio Dose-Dependent
            Modulation with the ApoE Genotype within the ATN Framework
  JOURNAL   Int J Mol Sci 24 (15), 12151 (2023)
   PUBMED   37569528
  REMARK    GeneRIF: Blood-Brain Barrier Dysfunction and Abeta42/40 Ratio
            Dose-Dependent Modulation with the ApoE Genotype within the ATN
            Framework. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3583)
  AUTHORS   Liu J, Liu S, Zeng L and Tsilioni I.
  TITLE     Amyloid Beta Peptides Lead to Mast Cell Activation in a Novel 3D
            Hydrogel Model
  JOURNAL   Int J Mol Sci 24 (15), 12002 (2023)
   PUBMED   37569378
  REMARK    GeneRIF: Amyloid Beta Peptides Lead to Mast Cell Activation in a
            Novel 3D Hydrogel Model. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3583)
  AUTHORS   Ichimata S, Martinez-Valbuena I, Lee S, Li J, Karakani AM and Kovacs
            GG.
  TITLE     Distinct Molecular Signatures of Amyloid-Beta and Tau in Alzheimer's
            Disease Associated with Down Syndrome
  JOURNAL   Int J Mol Sci 24 (14), 11596 (2023)
   PUBMED   37511361
  REMARK    GeneRIF: Distinct Molecular Signatures of Amyloid-Beta and Tau in
            Alzheimer's Disease Associated with Down Syndrome. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 3583)
  AUTHORS   Soscia SJ, Kirby JE, Washicosky KJ, Tucker SM, Ingelsson M, Hyman B,
            Burton MA, Goldstein LE, Duong S, Tanzi RE and Moir RD.
  TITLE     The Alzheimer's disease-associated amyloid beta-protein is an
            antimicrobial peptide
  JOURNAL   PLoS One 5 (3), e9505 (2010)
   PUBMED   20209079
  REMARK    GeneRIF: Alzheimer's disease-associated amyloid beta-protein
            peptides display antimicrobial activity against C. albicans, E.
            coli, S. epidermidis, S. pneumoniae, S. aureus, L. monocytogenes, E.
            faecalis, and S. agalactiae. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3583)
  AUTHORS   Bird,T.D.
  TITLE     Early-Onset Familial Alzheimer Disease - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301414
REFERENCE   7  (bases 1 to 3583)
  AUTHORS   Bird,T.D.
  TITLE     Alzheimer Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301340
REFERENCE   8  (bases 1 to 3583)
  AUTHORS   Mant,R., Asherson,P., Gill,M., McGuffin,P., Owen,M., Wert,S.E.,
            Gregory,R.J., Smith,A.E., Cohn,J.A., Wilson,J.M. et al.
  TITLE     Schizophrenia scepticism
  JOURNAL   Nat Genet 2 (1), 12 (1992)
   PUBMED   1303244
REFERENCE   9  (bases 1 to 3583)
  AUTHORS   Mullan M, Crawford F, Axelman K, Houlden H, Lilius L, Winblad B and
            Lannfelt L.
  TITLE     A pathogenic mutation for probable Alzheimer's disease in the APP
            gene at the N-terminus of beta-amyloid
  JOURNAL   Nat Genet 1 (5), 345-347 (1992)
   PUBMED   1302033
REFERENCE   10  (bases 1 to 3583)
  AUTHORS   Hendriks L, van Duijn CM, Cras P, Cruts M, Van Hul W, van Harskamp
            F, Warren A, McInnis MG, Antonarakis SE, Martin JJ et al.
  TITLE     Presenile dementia and cerebral haemorrhage linked to a mutation at
            codon 692 of the beta-amyloid precursor protein gene
  JOURNAL   Nat Genet 1 (3), 218-221 (1992)
   PUBMED   1303239
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853560.19016.1,
            SRR14038194.1684132.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000346798.8/ ENSP00000284981.4
            Protein has antimicrobial activity :: PMID: 20209079
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI559391.1, AK312326.1,
            BC065529.1 and BM876312.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000484.3.
            Summary: This gene encodes a cell surface receptor and
            transmembrane precursor protein that is cleaved by secretases to
            form a number of peptides. Some of these peptides are secreted and
            can bind to the acetyltransferase complex APBB1/TIP60 to promote
            transcriptional activation, while others form the protein basis of
            the amyloid plaques found in the brains of patients with Alzheimer
            disease. In addition, two of the peptides are antimicrobial
            peptides, having been shown to have bacteriocidal and antifungal
            activities. Mutations in this gene have been implicated in
            autosomal dominant Alzheimer disease and cerebroarterial
            amyloidosis (cerebral amyloid angiopathy). Multiple transcript
            variants encoding several different isoforms have been found for
            this gene. [provided by RefSeq, Aug 2014].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a, also known as PreA4
            770).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3583
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q21.3"
     gene            1..3583
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="amyloid beta precursor protein"
                     /db_xref="GeneID:351"
                     /db_xref="HGNC:HGNC:620"
                     /db_xref="MIM:104760"
     CDS             151..2463
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="isoform a precursor is encoded by transcript variant
                     1; peptidase nexin-II; cerebral vascular amyloid peptide;
                     protease nexin-II; amyloid beta A4 protein; beta-amyloid
                     peptide; alzheimer disease amyloid protein; beta-amyloid
                     peptide(1-40); beta-amyloid peptide(1-42); amyloid
                     precursor protein; beta-amyloid precursor protein;
                     testicular tissue protein Li 2; amyloid beta (A4) precursor
                     protein; alzheimer disease amyloid A4 protein homolog"
                     /codon_start=1
                     /product="amyloid-beta precursor protein isoform a
                     precursor"
                     /protein_id="NP_000475.1"
                     /db_xref="CCDS:CCDS13576.1"
                     /db_xref="GeneID:351"
                     /db_xref="HGNC:HGNC:620"
                     /db_xref="MIM:104760"
                     /translation="MLPGLALLLLAAWTARALEVPTDGNAGLLAEPQIAMFCGRLNMHM
                     NVQNGKWDSDPSGTKTCIDTKEGILQYCQEVYPELQITNVVEANQPVTIQNWCKRGRKQ
                     CKTHPHFVIPYRCLVGEFVSDALLVPDKCKFLHQERMDVCETHLHWHTVAKETCSEKST
                     NLHDYGMLLPCGIDKFRGVEFVCCPLAEESDNVDSADAEEDDSDVWWGGADTDYADGSE
                     DKVVEVAEEEEVAEVEEEEADDDEDDEDGDEVEEEAEEPYEEATERTTSIATTTTTTTE
                     SVEEVVREVCSEQAETGPCRAMISRWYFDVTEGKCAPFFYGGCGGNRNNFDTEEYCMAV
                     CGSAMSQSLLKTTQEPLARDPVKLPTTAASTPDAVDKYLETPGDENEHAHFQKAKERLE
                     AKHRERMSQVMREWEEAERQAKNLPKADKKAVIQHFQEKVESLEQEAANERQQLVETHM
                     ARVEAMLNDRRRLALENYITALQAVPPRPRHVFNMLKKYVRAEQKDRQHTLKHFEHVRM
                     VDPKKAAQIRSQVMTHLRVIYERMNQSLSLLYNVPAVAEEIQDEVDELLQKEQNYSDDV
                     LANMISEPRISYGNDALMPSLTETKTTVELLPVNGEFSLDDLQPWHSFGADSVPANTEN
                     EVEPVDARPAADRGLTTRPGSGLTNIKTEEISEVKMDAEFRHDSGYEVHHQKLVFFAED
                     VGSNKGAIIGLMVGGVVIATVIVITLVMLKKKQYTSIHHGVVEVDAAVTPEERHLSKMQ
                     QNGYENPTYKFFEQMQN"
     sig_peptide     151..201
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     202..2460
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /product="amyloid-beta precursor protein isoform a"
     mat_peptide     202..2211
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /product="Soluble APP-alpha. /id=PRO_0000000089"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3)"
     mat_peptide     202..2163
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /product="Soluble APP-beta. /id=PRO_0000000090"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3)"
     mat_peptide     202..1008
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /product="N-APP. /id=PRO_0000381966"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3)"
     misc_feature    232..519
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3);
                     Region: GFLD subdomain.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01217"
     misc_feature    541..717
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3);
                     Region: CuBD subdomain.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01217"
     misc_feature    658..660
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Required for Cu(2+) reduction.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01217; propagated
                     from UniProtKB/Swiss-Prot (P05067.3); other site"
     misc_feature    730..1002
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    739..744
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Cleavage, by caspases.
                     /evidence=ECO:0000269|PubMed:10319819; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); cleavage site"
     misc_feature    742..744
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:8999878; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); phosphorylation site"
     misc_feature    766..768
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Phosphoserine, by CK1.
                     /evidence=ECO:0000269|PubMed:8999878; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); phosphorylation site"
     misc_feature    799..801
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P05067.3); sulfatation site"
     misc_feature    805..810
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Cleavage, by caspases.
                     /evidence=ECO:0000269|PubMed:10319819; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); cleavage site"
     misc_feature    934..936
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P05067.3); sulfatation site"
     misc_feature    1051..1056
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Reactive bond; propagated from UniProtKB/Swiss-Prot
                     (P05067.3); other site"
     misc_feature    1156..1158
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P05067.3); sulfatation site"
     misc_feature    1180..1245
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3);
                     Region: OX-2. /evidence=ECO:0000269|PubMed:2649245"
     misc_feature    1321..1419
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3);
                     Region: Heparin-binding"
     misc_feature    1471..1473
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); phosphorylation site"
     misc_feature    1621..1716
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3);
                     Region: Heparin-binding"
     misc_feature    1639..1641
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); phosphorylation site"
     misc_feature    1717..1770
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3);
                     Region: Collagen-binding.
                     /evidence=ECO:0000269|PubMed:8576160"
     misc_feature    1774..1776
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); glycosylation site"
     misc_feature    1861..1863
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P05067.3); glycosylation site"
     misc_feature    2047..2049
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="O-linked (GalNAc...) threonine, partial.
                     /evidence=ECO:0000269|PubMed:21712440,
                     ECO:0000269|PubMed:22576872; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); glycosylation site"
     misc_feature    2101..2103
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="O-linked (GalNAc...) threonine, partial.
                     /evidence=ECO:0000269|PubMed:21712440,
                     ECO:0000269|PubMed:22576872; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); glycosylation site"
     misc_feature    2104..2106
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="O-linked (GalNAc...) threonine, partial.
                     /evidence=ECO:0000269|PubMed:21712440,
                     ECO:0000269|PubMed:22576872; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); glycosylation site"
     misc_feature    2116..2118
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="O-linked (Xyl...) (chondroitin sulfate) serine, in
                     L-APP isoforms. /evidence=ECO:0000269|PubMed:21712440;
                     propagated from UniProtKB/Swiss-Prot (P05067.3);
                     glycosylation site"
     misc_feature    2125..2127
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="O-linked (HexNAc...) threonine, partial.
                     /evidence=ECO:0000269|PubMed:22576872; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); glycosylation site"
     misc_feature    2137..2139
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="O-linked (GalNAc...) threonine, partial.
                     /evidence=ECO:0000269|PubMed:22576872,
                     ECO:0000305|PubMed:21712440; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); glycosylation site"
     misc_feature    2149..2151
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="O-linked (GalNAc...) serine, partial.
                     /evidence=ECO:0000269|PubMed:22576872,
                     ECO:0000305|PubMed:21712440; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); glycosylation site"
     misc_feature    2161..2166
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Cleavage, by beta-secretase.
                     /evidence=ECO:0000305|PubMed:11851430; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); cleavage site"
     mat_peptide     2164..2460
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /product="C99. /id=PRO_0000000091"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3)"
     mat_peptide     2164..2289
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /product="amyloid-beta precursor protein isoform a"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     20209079]"
                     /exception="alternative processing"
     mat_peptide     2164..2283
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /product="amyloid-beta precursor protein isoform a"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     20209079]"
     misc_feature    2164..2169
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Cleavage, by caspase-6, when associated with variant
                     670-N-L-671; propagated from UniProtKB/Swiss-Prot
                     (P05067.3); cleavage site"
     misc_feature    2182..2187
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Cleavage, by ACE.
                     /evidence=ECO:0000269|PubMed:11604391,
                     ECO:0000269|PubMed:16154999; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); cleavage site"
     misc_feature    2191..2193
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="O-linked (HexNAc...) tyrosine, partial.
                     /evidence=ECO:0000269|PubMed:22576872; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); glycosylation site"
     misc_feature    2209..2214
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Cleavage, by alpha-secretase.
                     /evidence=ECO:0000305|PubMed:11851430; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); cleavage site"
     mat_peptide     2212..2460
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /product="C83. /id=PRO_0000000094"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3)"
     mat_peptide     2212..2289
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /product="P3(42). /id=PRO_0000000095"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3)"
     mat_peptide     2212..2283
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /product="P3(40). /id=PRO_0000000096"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3)"
     misc_feature    2218..2223
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Cleavage, by theta-secretase.
                     /evidence=ECO:0000269|PubMed:16816112; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); cleavage site"
     mat_peptide     2221..2460
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /product="C80. /id=PRO_0000384574"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3)"
     misc_feature    2233..2316
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3);
                     Region: Interaction with PSEN1.
                     /evidence=ECO:0000269|PubMed:30630874"
     misc_feature    2254..2316
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3);
                     transmembrane region"
     misc_feature    2260..2262
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Implicated in free radical propagation.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P05067.3); other site"
     misc_feature    2266..2268
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Susceptible to oxidation.
                     /evidence=ECO:0000269|PubMed:10535332; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); other site"
     misc_feature    2281..2286
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Cleavage, by gamma-secretase, site 1.
                     /evidence=ECO:0000305|PubMed:11851430; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); cleavage site"
     mat_peptide     2284..2460
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /product="Gamma-secretase C-terminal fragment 59.
                     /id=PRO_0000000097"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3)"
     misc_feature    2287..2292
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Cleavage, by gamma-secretase, site 2.
                     /evidence=ECO:0000305|PubMed:11851430; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); cleavage site"
     mat_peptide     2290..2460
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /product="Gamma-secretase C-terminal fragment 57.
                     /id=PRO_0000000098"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3)"
     misc_feature    2308..2313
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Cleavage, by gamma-secretase, site 3.
                     /evidence=ECO:0000269|PubMed:11851430,
                     ECO:0000305|PubMed:30630874; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); cleavage site"
     mat_peptide     2311..2460
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /product="Gamma-secretase C-terminal fragment 50.
                     /evidence=ECO:0000250. /id=PRO_0000000099"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3)"
     misc_feature    2320..2352
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3);
                     Region: Basolateral sorting signal"
     misc_feature    2335..2337
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P08592; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); phosphorylation site"
     misc_feature    2338..2340
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Phosphoserine, by APP-kinase I.
                     /evidence=ECO:0000250|UniProtKB:P08592; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); phosphorylation site"
     misc_feature    2344..2403
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3);
                     Region: Interaction with G(o)-alpha"
     misc_feature    2365..2370
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Cleavage, by caspase-6, caspase-8 or caspase-9.
                     /evidence=ECO:0000269|PubMed:10319819; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); cleavage site"
     mat_peptide     2368..2460
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /product="C31. /id=PRO_0000000100"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3)"
     misc_feature    2377..2379
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Phosphothreonine, by CDK5 and MAPK10.
                     /evidence=ECO:0000269|PubMed:28720718,
                     ECO:0000269|PubMed:8131745, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P05067.3);
                     phosphorylation site"
     misc_feature    2416..2460
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3);
                     Region: Required for the interaction with KIF5B and for
                     anterograde transport in axons.
                     /evidence=ECO:0000269|PubMed:17062754"
     misc_feature    2419..2436
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P05067.3);
                     Region: YENPXY motif, contains endocytosis signal.
                     /evidence=ECO:0000269|PubMed:10383380"
     misc_feature    2419..2421
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:11877420; propagated from
                     UniProtKB/Swiss-Prot (P05067.3); phosphorylation site"
     regulatory      3309..3314
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="hexamer: AATAAA"
     polyA_site      3327
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="major polyA site"
     regulatory      3560..3565
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="hexamer: AATAAA"
     polyA_site      3583
                     /gene="APP"
                     /gene_synonym="AAA; ABETA; ABPP; AD1; alpha-sAPP; APPI;
                     CTFgamma; CVAP; PN-II; PN2; preA4"
                     /note="major polyA site"
ORIGIN
        1 gtcagtttcc tcggcagcgg taggcgagag cacgcggagg agcgtgcgcg ggggccccgg
       61 gagacggcgg cggtggcggc gcgggcagag caaggacgcg gcggatccca ctcgcacagc
      121 agcgcactcg gtgccccgcg cagggtcgcg atgctgcccg gtttggcact gctcctgctg
      181 gccgcctgga cggctcgggc gctggaggta cccactgatg gtaatgctgg cctgctggct
      241 gaaccccaga ttgccatgtt ctgtggcaga ctgaacatgc acatgaatgt ccagaatggg
      301 aagtgggatt cagatccatc agggaccaaa acctgcattg ataccaagga aggcatcctg
      361 cagtattgcc aagaagtcta ccctgaactg cagatcacca atgtggtaga agccaaccaa
      421 ccagtgacca tccagaactg gtgcaagcgg ggccgcaagc agtgcaagac ccatccccac
      481 tttgtgattc cctaccgctg cttagttggt gagtttgtaa gtgatgccct tctcgttcct
      541 gacaagtgca aattcttaca ccaggagagg atggatgttt gcgaaactca tcttcactgg
      601 cacaccgtcg ccaaagagac atgcagtgag aagagtacca acttgcatga ctacggcatg
      661 ttgctgccct gcggaattga caagttccga ggggtagagt ttgtgtgttg cccactggct
      721 gaagaaagtg acaatgtgga ttctgctgat gcggaggagg atgactcgga tgtctggtgg
      781 ggcggagcag acacagacta tgcagatggg agtgaagaca aagtagtaga agtagcagag
      841 gaggaagaag tggctgaggt ggaagaagaa gaagccgatg atgacgagga cgatgaggat
      901 ggtgatgagg tagaggaaga ggctgaggaa ccctacgaag aagccacaga gagaaccacc
      961 agcattgcca ccaccaccac caccaccaca gagtctgtgg aagaggtggt tcgagaggtg
     1021 tgctctgaac aagccgagac ggggccgtgc cgagcaatga tctcccgctg gtactttgat
     1081 gtgactgaag ggaagtgtgc cccattcttt tacggcggat gtggcggcaa ccggaacaac
     1141 tttgacacag aagagtactg catggccgtg tgtggcagcg ccatgtccca aagtttactc
     1201 aagactaccc aggaacctct tgcccgagat cctgttaaac ttcctacaac agcagccagt
     1261 acccctgatg ccgttgacaa gtatctcgag acacctgggg atgagaatga acatgcccat
     1321 ttccagaaag ccaaagagag gcttgaggcc aagcaccgag agagaatgtc ccaggtcatg
     1381 agagaatggg aagaggcaga acgtcaagca aagaacttgc ctaaagctga taagaaggca
     1441 gttatccagc atttccagga gaaagtggaa tctttggaac aggaagcagc caacgagaga
     1501 cagcagctgg tggagacaca catggccaga gtggaagcca tgctcaatga ccgccgccgc
     1561 ctggccctgg agaactacat caccgctctg caggctgttc ctcctcggcc tcgtcacgtg
     1621 ttcaatatgc taaagaagta tgtccgcgca gaacagaagg acagacagca caccctaaag
     1681 catttcgagc atgtgcgcat ggtggatccc aagaaagccg ctcagatccg gtcccaggtt
     1741 atgacacacc tccgtgtgat ttatgagcgc atgaatcagt ctctctccct gctctacaac
     1801 gtgcctgcag tggccgagga gattcaggat gaagttgatg agctgcttca gaaagagcaa
     1861 aactattcag atgacgtctt ggccaacatg attagtgaac caaggatcag ttacggaaac
     1921 gatgctctca tgccatcttt gaccgaaacg aaaaccaccg tggagctcct tcccgtgaat
     1981 ggagagttca gcctggacga tctccagccg tggcattctt ttggggctga ctctgtgcca
     2041 gccaacacag aaaacgaagt tgagcctgtt gatgcccgcc ctgctgccga ccgaggactg
     2101 accactcgac caggttctgg gttgacaaat atcaagacgg aggagatctc tgaagtgaag
     2161 atggatgcag aattccgaca tgactcagga tatgaagttc atcatcaaaa attggtgttc
     2221 tttgcagaag atgtgggttc aaacaaaggt gcaatcattg gactcatggt gggcggtgtt
     2281 gtcatagcga cagtgatcgt catcaccttg gtgatgctga agaagaaaca gtacacatcc
     2341 attcatcatg gtgtggtgga ggttgacgcc gctgtcaccc cagaggagcg ccacctgtcc
     2401 aagatgcagc agaacggcta cgaaaatcca acctacaagt tctttgagca gatgcagaac
     2461 tagacccccg ccacagcagc ctctgaagtt ggacagcaaa accattgctt cactacccat
     2521 cggtgtccat ttatagaata atgtgggaag aaacaaaccc gttttatgat ttactcatta
     2581 tcgccttttg acagctgtgc tgtaacacaa gtagatgcct gaacttgaat taatccacac
     2641 atcagtaatg tattctatct ctctttacat tttggtctct atactacatt attaatgggt
     2701 tttgtgtact gtaaagaatt tagctgtatc aaactagtgc atgaatagat tctctcctga
     2761 ttatttatca catagcccct tagccagttg tatattattc ttgtggtttg tgacccaatt
     2821 aagtcctact ttacatatgc tttaagaatc gatgggggat gcttcatgtg aacgtgggag
     2881 ttcagctgct tctcttgcct aagtattcct ttcctgatca ctatgcattt taaagttaaa
     2941 catttttaag tatttcagat gctttagaga gatttttttt ccatgactgc attttactgt
     3001 acagattgct gcttctgcta tatttgtgat ataggaatta agaggataca cacgtttgtt
     3061 tcttcgtgcc tgttttatgt gcacacatta ggcattgaga cttcaagctt ttcttttttt
     3121 gtccacgtat ctttgggtct ttgataaaga aaagaatccc tgttcattgt aagcactttt
     3181 acggggcggg tggggagggg tgctctgctg gtcttcaatt accaagaatt ctccaaaaca
     3241 attttctgca ggatgattgt acagaatcat tgcttatgac atgatcgctt tctacactgt
     3301 attacataaa taaattaaat aaaataaccc cgggcaagac ttttctttga aggatgacta
     3361 cagacattaa ataatcgaag taattttggg tggggagaag aggcagattc aattttcttt
     3421 aaccagtctg aagtttcatt tatgatacaa aagaagatga aaatggaagt ggcaatataa
     3481 ggggatgagg aaggcatgcc tggacaaacc cttcttttaa gatgtgtctt caatttgtat
     3541 aaaatggtgt tttcatgtaa ataaatacat tcttggagga gca
//
LOCUS       NM_000485                931 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens adenine phosphoribosyltransferase (APRT), transcript
            variant 1, mRNA.
ACCESSION   NM_000485
VERSION     NM_000485.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 931)
  AUTHORS   Locher M, Jukic E, Vogi V, Keller MA, Kroll T, Schwendinger S,
            Oberhuber K, Verdorfer I, Muhlegger BE, Witsch-Baumgartner M,
            Nachbaur D, Willenbacher W, Gunsilius E, Wolf D, Zschocke J and
            Steiner N.
  TITLE     Amp(1q) and tetraploidy are commonly acquired chromosomal
            abnormalities in relapsed multiple myeloma
  JOURNAL   Eur J Haematol 110 (3), 296-304 (2023)
   PUBMED   36433728
  REMARK    GeneRIF: Amp(1q) and tetraploidy are commonly acquired chromosomal
            abnormalities in relapsed multiple myeloma.
REFERENCE   2  (bases 1 to 931)
  AUTHORS   Runolfsdottir HL, Sayer JA, Indridason OS, Edvardsson VO, Jensson
            BO, Arnadottir GA, Gudjonsson SA, Fridriksdottir R, Katrinardottir
            H, Gudbjartsson D, Thorsteinsdottir U, Sulem P, Stefansson K and
            Palsson R.
  TITLE     Allele frequency of variants reported to cause adenine
            phosphoribosyltransferase deficiency
  JOURNAL   Eur J Hum Genet 29 (7), 1061-1070 (2021)
   PUBMED   33707627
  REMARK    GeneRIF: Allele frequency of variants reported to cause adenine
            phosphoribosyltransferase deficiency.
REFERENCE   3  (bases 1 to 931)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 931)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 931)
  AUTHORS   Ozeir M, Huyet J, Burgevin MC, Pinson B, Chesney F, Remy JM, Siddiqi
            AR, Lupoli R, Pinon G, Saint-Marc C, Gibert JF, Morales R,
            Ceballos-Picot I, Barouki R, Daignan-Fornier B, Olivier-Bandini A,
            Auge F and Nioche P.
  TITLE     Structural basis for substrate selectivity and nucleophilic
            substitution mechanisms in human adenine phosphoribosyltransferase
            catalyzed reaction
  JOURNAL   J Biol Chem 294 (32), 11980-11991 (2019)
   PUBMED   31160323
  REMARK    GeneRIF: binding to hAPRT is substrate shape-specific in the forward
            reaction, whereas it is base-specific in the reverse reaction. The
            forward reaction is mainly a nucleophilic substitution of type 2
            (SN2) with a mix of SN1-type molecular mechanism. Based on our
            structural analysis, a magnesium-assisted SN2-type mechanism would
            be involved in the reverse reaction.
REFERENCE   6  (bases 1 to 931)
  AUTHORS   Edvardsson,V.O., Sahota,A. and Palsson,R.
  TITLE     Adenine Phosphoribosyltransferase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   22934314
REFERENCE   7  (bases 1 to 931)
  AUTHORS   Kamatani N, Hakoda M, Otsuka S, Yoshikawa H and Kashiwazaki S.
  TITLE     Only three mutations account for almost all defective alleles
            causing adenine phosphoribosyltransferase deficiency in Japanese
            patients
  JOURNAL   J Clin Invest 90 (1), 130-135 (1992)
   PUBMED   1353080
REFERENCE   8  (bases 1 to 931)
  AUTHORS   Ludwig,H., Kuzmits,R., Pietschmann,H. and Muller,M.M.
  TITLE     Enzymes of the purine interconversion system in chronic lymphatic
            leukemia: decreased purine nucleoside phosphorylase and adenosine
            deaminase activity
  JOURNAL   Blut 39 (5), 309-315 (1979)
   PUBMED   116697
REFERENCE   9  (bases 1 to 931)
  AUTHORS   Holden,J.A., Meredith,G.S. and Kelley,W.N.
  TITLE     Human adenine phosphoribosyltransferase. Affinity purification,
            subunit structure, amino acid composition, and peptide mapping
  JOURNAL   J Biol Chem 254 (15), 6951-6955 (1979)
   PUBMED   457664
REFERENCE   10  (bases 1 to 931)
  AUTHORS   Johnson,L.A., Gordon,R.B. and Emmerson,B.T.
  TITLE     Adenine phosphoribosyltransferase: a simple spectrophotometric assay
            and the incidence of mutation in the normal population
  JOURNAL   Biochem Genet 15 (3-4), 265-272 (1977)
   PUBMED   869896
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.627404.1,
            SRR7410570.627401.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378364.8/ ENSP00000367615.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM423481.1, BU507629.1 and
            AC092384.5.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000485.2.
            Summary: Adenine phosphoribosyltransferase belongs to the
            purine/pyrimidine phosphoribosyltransferase family. A conserved
            feature of this gene is the distribution of CpG dinucleotides. This
            enzyme catalyzes the formation of AMP and inorganic pyrophosphate
            from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also
            produces adenine as a by-product of the polyamine biosynthesis
            pathway. A homozygous deficiency in this enzyme causes
            2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..931
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..931
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /note="adenine phosphoribosyltransferase"
                     /db_xref="GeneID:353"
                     /db_xref="HGNC:HGNC:626"
                     /db_xref="MIM:102600"
     CDS             30..572
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /EC_number="2.4.2.7"
                     /note="isoform a is encoded by transcript variant 1;
                     transphosphoribosidase; AMP diphosphorylase; AMP
                     pyrophosphorylase"
                     /codon_start=1
                     /product="adenine phosphoribosyltransferase isoform a"
                     /protein_id="NP_000476.1"
                     /db_xref="CCDS:CCDS32511.1"
                     /db_xref="GeneID:353"
                     /db_xref="HGNC:HGNC:626"
                     /db_xref="MIM:102600"
                     /translation="MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGL
                     LARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLE
                     YGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLK
                     GREKLAPVPFFSLLQYE"
     misc_feature    33..35
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000269|PubMed:12665801,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P07741.2); acetylation site"
     misc_feature    39..41
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P07741.2); phosphorylation site"
     misc_feature    72..74
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P07741.2); phosphorylation site"
     misc_feature    117..119
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P07741.2); phosphorylation site"
     misc_feature    207..209
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P07741.2); phosphorylation site"
     misc_feature    225..227
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P07741.2);
                     phosphorylation site"
     misc_feature    369..371
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P07741.2); acetylation site"
     misc_feature    432..434
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P07741.2); phosphorylation site"
     regulatory      782..787
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /note="hexamer: AGTAAA"
     polyA_site      801
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /note="major polyA site"
ORIGIN
        1 gggctgccgc tggctcttcg cacgcggcca tggccgactc cgagctgcag ctggttgagc
       61 agcggatccg cagcttcccc gacttcccca ccccaggcgt ggtattcagg gacatctcgc
      121 ccgtcctgaa ggaccccgcc tccttccgcg ccgccatcgg cctcctggcg cgacacctga
      181 aggcgaccca cgggggccgc atcgactaca tcgcaggcct agactcccga ggcttcctct
      241 ttggcccctc cctggcccag gagcttggac tgggctgcgt gctcatccga aagcggggga
      301 agctgccagg ccccactctg tgggcctcct attccctgga gtacgggaag gctgagctgg
      361 agattcagaa agacgccctg gagccaggac agagggtggt cgtcgtggat gatctgctgg
      421 ccactggtgg aaccatgaac gctgcctgtg agctgctggg ccgcctgcag gctgaggtcc
      481 tggagtgcgt gagcctggtg gagctgacct cgcttaaggg cagggagaag ctggcacctg
      541 tacccttctt ctctctcctg cagtatgagt gaccacaggg cctcccagcc caacatctcc
      601 agctggatcc cagggaaata tcagccttgg gcaactgcag tgaccagggg caccggctgc
      661 ccacagggaa cacattcctt tgctggggtt cagcgcctct cctggggctg gaagtgccaa
      721 agcctggggc aaagctgtgt ttcagccaca ctgaacccaa ttacacacag cgggagaacg
      781 cagtaaacag ctttcccaca agagccgtct cctgtcctcc tgttccccag ggcagggagc
      841 cccaggacaa caccagactt cagctgtact gtgggcatgt gctgcttggc gtgatgccca
      901 gcagaacctg tcctggttct cacctcagga g
//
LOCUS       NM_000486               4180 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens aquaporin 2 (AQP2), mRNA.
ACCESSION   NM_000486
VERSION     NM_000486.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4180)
  AUTHORS   Hagstromer CJ, Hyld Steffen J, Kreida S, Al-Jubair T, Frick A,
            Gourdon P and Tornroth-Horsefield S.
  TITLE     Structural and functional analysis of aquaporin-2 mutants involved
            in nephrogenic diabetes insipidus
  JOURNAL   Sci Rep 13 (1), 14674 (2023)
   PUBMED   37674034
  REMARK    GeneRIF: Structural and functional analysis of aquaporin-2 mutants
            involved in nephrogenic diabetes insipidus. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 4180)
  AUTHORS   Li M, Liu G, Jin X, Guo H, Setrerrahmane S, Xu X, Li T, Lin Y and Xu
            H.
  TITLE     Micropeptide MIAC inhibits the tumor progression by interacting with
            AQP2 and inhibiting EREG/EGFR signaling in renal cell carcinoma
  JOURNAL   Mol Cancer 21 (1), 181 (2022)
   PUBMED   36117171
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4180)
  AUTHORS   Schenk AD, Werten PJ, Scheuring S, de Groot BL, Muller SA, Stahlberg
            H, Philippsen A and Engel A.
  TITLE     The 4.5 A structure of human AQP2
  JOURNAL   J Mol Biol 350 (2), 278-289 (2005)
   PUBMED   15922355
  REMARK    GeneRIF: crystallization of recombinantly expressed human AQP2 into
            two-dimensional protein-lipid arrays and their structural
            characterization by atomic force microscopy and electron
            crystallography
REFERENCE   4  (bases 1 to 4180)
  AUTHORS   Ma T, Yang B, Umenishi F and Verkman AS.
  TITLE     Closely spaced tandem arrangement of AQP2, AQP5, and AQP6 genes in a
            27-kilobase segment at chromosome locus 12q13
  JOURNAL   Genomics 43 (3), 387-389 (1997)
   PUBMED   9268644
REFERENCE   5  (bases 1 to 4180)
  AUTHORS   Saito F, Sasaki S, Chepelinsky AB, Fushimi K, Marumo F and Ikeuchi
            T.
  TITLE     Human AQP2 and MIP genes, two members of the MIP family, map within
            chromosome band 12q13 on the basis of two-color FISH
  JOURNAL   Cytogenet Cell Genet 68 (1-2), 45-48 (1995)
   PUBMED   7525161
REFERENCE   6  (bases 1 to 4180)
  AUTHORS   Uchida S, Sasaki S, Fushimi K and Marumo F.
  TITLE     Isolation of human aquaporin-CD gene
  JOURNAL   J Biol Chem 269 (38), 23451-23455 (1994)
   PUBMED   7522228
REFERENCE   7  (bases 1 to 4180)
  AUTHORS   Sasaki S, Fushimi K, Saito H, Saito F, Uchida S, Ishibashi K,
            Kuwahara M, Ikeuchi T, Inui K, Nakajima K et al.
  TITLE     Cloning, characterization, and chromosomal mapping of human
            aquaporin of collecting duct
  JOURNAL   J Clin Invest 93 (3), 1250-1256 (1994)
   PUBMED   7510718
  REMARK    Erratum:[J Clin Invest 1994 Nov;94(5):following 216]
REFERENCE   8  (bases 1 to 4180)
  AUTHORS   Knoers,N. and Lemmink,H.
  TITLE     Hereditary Nephrogenic Diabetes Insipidus
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301356
REFERENCE   9  (bases 1 to 4180)
  AUTHORS   Zeidel ML, Ambudkar SV, Smith BL and Agre P.
  TITLE     Reconstitution of functional water channels in liposomes containing
            purified red cell CHIP28 protein
  JOURNAL   Biochemistry 31 (33), 7436-7440 (1992)
   PUBMED   1510932
REFERENCE   10  (bases 1 to 4180)
  AUTHORS   Preston GM, Carroll TP, Guggino WB and Agre P.
  TITLE     Appearance of water channels in Xenopus oocytes expressing red cell
            CHIP28 protein
  JOURNAL   Science 256 (5055), 385-387 (1992)
   PUBMED   1373524
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC042496.1, S73196.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000199280.4/ ENSP00000199280.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025154.31, AK225940.1,
            AI792401.1 and BC042496.1.
            On Dec 27, 2019 this sequence version replaced NM_000486.5.
            Summary: This gene encodes a water channel protein located in the
            kidney collecting tubule. It belongs to the MIP/aquaporin family,
            some members of which are clustered together on chromosome 12q13.
            Mutations in this gene have been linked to autosomal dominant and
            recessive forms of nephrogenic diabetes insipidus. [provided by
            RefSeq, Oct 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4180
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..4180
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="aquaporin 2"
                     /db_xref="GeneID:359"
                     /db_xref="HGNC:HGNC:634"
                     /db_xref="MIM:107777"
     misc_feature    59..61
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="upstream in-frame stop codon"
     CDS             95..910
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="water-channel aquaporin 2; collecting duct water
                     channel protein; aquaporin-CD; AQP-2; ADH water channel;
                     water channel protein for renal collecting duct; aquaporin
                     2 (collecting duct)"
                     /codon_start=1
                     /product="aquaporin-2"
                     /protein_id="NP_000477.1"
                     /db_xref="CCDS:CCDS8792.1"
                     /db_xref="GeneID:359"
                     /db_xref="HGNC:HGNC:634"
                     /db_xref="MIM:107777"
                     /translation="MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIA
                     MAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALL
                     HEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALS
                     IGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYV
                     LFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA"
     misc_feature    128..190
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41181.1);
                     transmembrane region"
     misc_feature    215..271
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41181.1);
                     transmembrane region"
     misc_feature    296..304
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41181.1);
                     Region: NPA 1. /evidence=ECO:0000305|PubMed:24733887"
     misc_feature    350..415
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41181.1);
                     transmembrane region"
     misc_feature    461..463
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P41181.1); glycosylation site"
     misc_feature    476..538
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41181.1);
                     transmembrane region"
     misc_feature    563..622
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41181.1);
                     transmembrane region"
     misc_feature    644..652
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41181.1);
                     Region: NPA 2. /evidence=ECO:0000305|PubMed:24733887"
     misc_feature    698..760
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41181.1);
                     transmembrane region"
     misc_feature    836..907
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41181.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    860..862
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:12194985; propagated from
                     UniProtKB/Swiss-Prot (P41181.1); phosphorylation site"
     regulatory      1462..1467
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="hexamer: AATAAA"
     polyA_site      1482
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
     regulatory      4161..4166
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="hexamer: AATAAA"
     polyA_site      4180
                     /gene="AQP2"
                     /gene_synonym="AQP-CD; NDI2; WCH-CD"
                     /note="major polyA site"
ORIGIN
        1 aggccttgag aaagagagcg atagagtgcg agagcgagtg cccggagcat cctggccctg
       61 agacagctgg gccagccccg cagggctctg cagcatgtgg gagctccgct ccatagcctt
      121 ctccagggct gtgttcgcag agttcctggc cacactcctc ttcgtcttct ttggcctcgg
      181 ctctgccctc aactggccac aggccctgcc ctctgtgcta cagattgcca tggcgtttgg
      241 cttgggtatt ggcaccctgg tacaggctct gggccacata agcggggccc acatcaaccc
      301 tgccgtgact gtggcctgcc tggtgggctg ccacgtctcc gttctccgag ccgccttcta
      361 cgtggctgcc cagctgctgg gggctgtggc cggagccgct ctgctccatg agatcacgcc
      421 agcagacatc cgcggggacc tggctgtcaa tgctctcagc aacagcacga cggctggcca
      481 ggcggtgact gtggagctct tcctgacact gcagctggtg ctctgcatct tcgcctccac
      541 cgatgagcgc cgcggagaga acccgggcac ccctgctctc tccataggct tctctgtggc
      601 cctgggccac ctccttggga tccattacac cggctgctct atgaatcctg cccgctccct
      661 ggctccagct gtcgtcactg gcaaatttga tgaccactgg gtcttctgga tcggacccct
      721 ggtgggcgcc atcctgggct ccctcctcta caactacgtg ctgtttccgc cagccaagag
      781 cctgtcggag cgcctggcag tgctgaaggg cctggagccg gacaccgatt gggaggagcg
      841 cgaggtgcga cggcggcagt cggtggagct gcactcgccg cagagcctgc cacggggtac
      901 caaggcctga gggccgccag cggcctctac ggccccgacg gacgcttgtg aggcccgagg
      961 cagaagggcc caccccgtcc ctcctctccc gcaggtctga agttggcccc ccagcgcaga
     1021 gtagctgctt cctggacgtg cgcgcccagg ccagtgctgt gagcaggcgg ggaggaggct
     1081 gccggaggga gccctgagcc tggcaggtcc cctgccctga ggctgtgagc agctagtggt
     1141 ggcttctcca gcctttttca gggaactggg aacttagggg actgagctgg ggagggaggc
     1201 aggtgggtgg taagagggaa actctggaga gcctgcaccc aggtactgag tggggagtgt
     1261 acagacccct gccttggggg ttccgggaat gatgcaactg gttttactag tgtgcaagtg
     1321 tgttcatccc caagttctct tttgtcctca catgcagagt tgtgcatgcc cctgagtgtg
     1381 aacaggtttg cctacgttgg tgcaagtgtg catggctggg gacttctcac ttccccttgc
     1441 accccttcct ccccaacctg caataaatcc gcttctcctg cagtggatga gtgtgggtgc
     1501 cagtcctcct caggagaagg ggaagggaag gaggccactt tgagagggct gaagggaggg
     1561 ccttgatttc cagccgcaat ctggctcctc ctggaaaatt tcccccacct gcagcgctgg
     1621 gccccaaggc ttgccaagac tcattgctgg aggtagagag gtgtcaacca gagaacagct
     1681 cccctagaca tggcctctgg aaaaaggaaa tctttggtgg ccaaagattt cctttctgtg
     1741 gtgagggaga acctctccaa agaggaagca ggcatatgag tgcgcacgcc ttcacgtgtg
     1801 tgtatgctgt gtgtgcccgg gacccccgtc tccaggggtg ccccagaccc agagattagc
     1861 ctcccacttc ggcgcagaaa acaaaagccc tttgtgggac ccgggccttt gtcttgggtg
     1921 aggggagatt tgcacctaga cacttcttga aaggagacac tcagtttcac aagtgagccc
     1981 tcttgcccag cacacaccta tggctggctg ggcaaggcgc tcaggcatgc aaccatgggc
     2041 accaggcaat acccatccat cacccatctc actctcccca gtcctcaggc agcagctttt
     2101 ccaccccagg aatctctgtt ccttctctgt ctgcctctcc acagcccgtg atcccctgct
     2161 tctggctcct accactggac agtcattgtg gatagagcag cctgctgctc tcaggaccag
     2221 agaagggaaa tgacttctcc aggcagaggc agatctgagt ctagaaccca ggcttctaaa
     2281 tttctaggcc agtactactg ctctcaaaag agattaactg ggattaagtg agatgacgca
     2341 tgtaaagatg ctgtgtaaac tgtaattctt aataccatta tcacgcatta ctagaatcat
     2401 ttcattattt ctgcttcctg ggggaaggat gcagaaggag tctgatgctc aacatccctt
     2461 acctcctttc gttgatggcc aaagcaaagg agagtcctgg gagcccacaa gatccaggca
     2521 gaaggagatg ggtttggggc tggccccatc ctggcccagc ctcttaacct cttcttaccc
     2581 tgaatgtgtg ccctatcttt tctcccacct ccttcctcct accacccagc cctatccatt
     2641 ctctccttcc ctctccagcc tgctgtataa gtaacatgtg ggtcatacct tgaacccccc
     2701 tccgccccca tgctctctgt ggcctccatg ccttcaagac ttctgtctgt atctatctca
     2761 cactgcacca agcacccact gtgcaccagg cactaagtct ctagcctctt tctcccttct
     2821 gctcccatcc aagaaagaca gtgtataagg aacatctctg taattgtgtc ccctctcatc
     2881 tatgctcttt cctgtcttcc ttgaccaaag ctctctttga ggtccaaaaa aggctgccct
     2941 gggccatatg tgctatggag aggactctcc caaaccccca atagctagtg acagccactt
     3001 ggcctcacta ccagaagaag ggtggagtca gaaaccaaag tgacctccag agctgtcctc
     3061 ctggcacctg agtgtccttg ctctagaggt tcaaaggcag caaggcagtg agctatgagc
     3121 ccagcatgga tgtgtctcag gcacctcatc cccaccccac ctcaccccaa caaactcctc
     3181 tagaagaagc caagaatttc tctctatgtc tgtttcactt tttggattgc atctccccaa
     3241 aaactaaatg tgaaatccct accatttcta gcctctattg cccagattgg agtcagaggt
     3301 caaaaaagga ttccaagtga tggaactcca ggggtggagg gaaattggca gttcctggca
     3361 tctcttgtgt accagctgct gtgctgggtg ccttgcatgc acggacttat ctgatcttcc
     3421 tcaaacttca gataggttag ggaaggacaa aggcccccag ccatgaaggg ttttgctatt
     3481 tccaaagctt ccccttatcg tcccctgtga ttatctccca accccgtgac aaaggtagag
     3541 caaatattgt tcttcccatt ttacagattc agaaaccaag gctaagggac tggtctaaag
     3601 tctcacaggt agtatatggt ggagccaaca cttgaactca gaccttttta cacaaaatcc
     3661 catgattttt ccactgagac aaatcctagg ctcctgggag gccctggcag aagccagaac
     3721 acatggctgg gcctttccag cccaacccac tgtcttgcag tggacggaga gccttggcga
     3781 gggcagcagg gtagagagga caaagaatgt ggggctggtt tctgcccttt aagagcaccc
     3841 ggtcagtcag agaacagaga tcacacacac caaaccagac agaggcaggg cagcatggag
     3901 acaggtagac agacctccag gtccctaagc tggggacaga gaaggttctg agctgtccca
     3961 tactcccact ttgtgccaaa tgactttgca cctgcaaatg gtgcttcaat gtcgttttgt
     4021 atctttaagc tgtgatgttg tatatataca atgcctccca gctagactgt aagccctttg
     4081 gggacaaggg ctgcttccag ttcttggatg gcgttctcct atctaccttc cttcaactgc
     4141 tctgcatata ataagcactc aataaatgct catttgccaa
//
LOCUS       NM_000487               4294 bp    mRNA    linear   PRI 13-MAR-2023
DEFINITION  Homo sapiens arylsulfatase A (ARSA), transcript variant 1, mRNA.
ACCESSION   NM_000487
VERSION     NM_000487.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4294)
  AUTHORS   Abtahi R, Karimzadeh P, Rezayi A, Salehpour S, Akbarzadeh D,
            Tonekaboni SH, Emameh RZ and Houshmand M.
  TITLE     Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian
            Patients
  JOURNAL   J Mol Neurosci 72 (3), 555-564 (2022)
   PUBMED   34554397
  REMARK    GeneRIF: Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68
            Iranian Patients.
REFERENCE   2  (bases 1 to 4294)
  AUTHORS   Pan HX, Wang YG, Zhao YW, Zeng Q, Wang Z, Fang ZH, Zhang Y, Zhou X,
            He RC, Xu Q, Sun QY, Tan JQ, Yan XX, Li JC, Tang BS and Guo JF.
  TITLE     Evaluating the role of ARSA in Chinese patients with Parkinson's
            disease
  JOURNAL   Neurobiol Aging 109, 269-272 (2022)
   PUBMED   34531044
  REMARK    GeneRIF: Evaluating the role of ARSA in Chinese patients with
            Parkinson's disease.
REFERENCE   3  (bases 1 to 4294)
  AUTHORS   Mahdieh N, Sharifi A, Rabbani A, Ashrafi M, Tavasoli AR, Badv RS,
            Bonkowsky JL and Rabbani B.
  TITLE     Novel disease-causing variants in a cohort of Iranian patients with
            metachromatic leukodystrophy and in silico analysis of their
            pathogenicity
  JOURNAL   Clin Neurol Neurosurg 201, 106448 (2021)
   PUBMED   33385934
  REMARK    GeneRIF: Novel disease-causing variants in a cohort of Iranian
            patients with metachromatic leukodystrophy and in silico analysis of
            their pathogenicity.
REFERENCE   4  (bases 1 to 4294)
  AUTHORS   Gomez-Torres MJ, Huerta-Retamal N, Robles-Gomez L, Saez-Espinosa P,
            Aizpurua J, Aviles M and Romero A.
  TITLE     Arylsulfatase A Remodeling during Human Sperm In Vitro Capacitation
            Using Field Emission Scanning Electron Microscopy (FE-SEM)
  JOURNAL   Cells 10 (2), 222 (2021)
   PUBMED   33498624
  REMARK    GeneRIF: Arylsulfatase A Remodeling during Human Sperm In Vitro
            Capacitation Using Field Emission Scanning Electron Microscopy
            (FE-SEM). Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4294)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24501781
REFERENCE   6  (bases 1 to 4294)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 4294)
  AUTHORS   Gomez-Ospina,N.
  TITLE     Arylsulfatase A Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301309
REFERENCE   8  (bases 1 to 4294)
  AUTHORS   Fujii T, Kobayashi T, Honke K, Gasa S, Ishikawa M, Shimizu T and
            Makita A.
  TITLE     Proteolytic processing of human lysosomal arylsulfatase A
  JOURNAL   Biochim Biophys Acta 1122 (1), 93-98 (1992)
   PUBMED   1352993
REFERENCE   9  (bases 1 to 4294)
  AUTHORS   Narahara K, Takahashi Y, Murakami M, Tsuji K, Yokoyama Y, Murakami
            R, Ninomiya S and Seino Y.
  TITLE     Terminal 22q deletion associated with a partial deficiency of
            arylsulphatase A
  JOURNAL   J Med Genet 29 (6), 432-433 (1992)
   PUBMED   1352356
  REMARK    Review article
REFERENCE   10  (bases 1 to 4294)
  AUTHORS   DeLuca,C., Brown,J.A. and Shows,T.B.
  TITLE     Lysosomal arylsulfatase deficiencies in humans: chromosome
            assignments for arylsulfatase A and B
  JOURNAL   Proc Natl Acad Sci U S A 76 (4), 1957-1961 (1979)
   PUBMED   36611
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.21861.1, AB448736.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000216124.10/ ENSP00000216124.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK301098.1, AB448736.1,
            U62317.2 and BQ184813.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000487.5.
            Summary: The protein encoded by this gene hydrolyzes cerebroside
            sulfate to cerebroside and sulfate. Defects in this gene lead to
            metachromatic leucodystrophy (MLD), a progressive demyelination
            disease which results in a variety of neurological symptoms and
            ultimately death. Alternatively spliced transcript variants have
            been described for this gene. [provided by RefSeq, Dec 2010].
            Transcript Variant: This variant (1) represents the longest
            transcript and it encodes the longer protein (isoform a). Variants
            1, 2, 3, and 4 encode the same isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4294
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     gene            1..4294
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /note="arylsulfatase A"
                     /db_xref="GeneID:410"
                     /db_xref="HGNC:HGNC:713"
                     /db_xref="MIM:607574"
     misc_feature    338..340
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /note="upstream in-frame stop codon"
     CDS             374..1903
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /EC_number="3.1.6.8"
                     /note="isoform a precursor is encoded by transcript variant
                     1; cerebroside-sulfatase; epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="arylsulfatase A isoform a precursor"
                     /protein_id="NP_000478.3"
                     /db_xref="CCDS:CCDS14100.2"
                     /db_xref="GeneID:410"
                     /db_xref="HGNC:HGNC:713"
                     /db_xref="MIM:607574"
                     /translation="MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPS
                     STTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPL
                     EEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTC
                     FPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFF
                     LYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFT
                     ADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLP
                     TLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAH
                     FFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQAL
                     KQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA"
     sig_peptide     374..433
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     434..1900
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /product="arylsulfatase A isoform a"
     polyA_site      2020
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /note="major polyA site"
     regulatory      3593..3598
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /note="hexamer: AATAAA"
     polyA_site      3612
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
     regulatory      4271..4276
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
                     /note="hexamer: AATAAA"
     polyA_site      4294
                     /gene="ARSA"
                     /gene_synonym="ASA; MLD"
ORIGIN
        1 gaggcggaag cgcccgcagc ccggtaccgg ctcctcctgg gctccctcta gcgccttccc
       61 cccggcccga ctccgctggt cagcgccaag tgacttacgc ccccgaccct gagcccggac
      121 cgctaggcga ggaggatcag atctccgctc gagaatctga aggtgccctg gtcctggagg
      181 agttccgtcc cagcccgcgg tctcccggta ctgtcgggcc ccggccctct ggagcttcag
      241 gaggcggccg tcagggtcgg ggagtatttg ggtccggggt ctcagggaag ggcggcgcct
      301 gggtctgcgg tatcggaaag agcctgctgg agccaagtag ccctccctct cttgggacag
      361 acccctcggt cccatgtcca tgggggcacc gcggtccctc ctcctggccc tggctgctgg
      421 cctggccgtt gcccgtccgc ccaacatcgt gctgatcttt gccgacgacc tcggctatgg
      481 ggacctgggc tgctatgggc accccagctc taccactccc aacctggacc agctggcggc
      541 gggagggctg cggttcacag acttctacgt gcctgtgtct ctgtgcacac cctctagggc
      601 cgccctcctg accggccggc tcccggttcg gatgggcatg taccctggcg tcctggtgcc
      661 cagctcccgg gggggcctgc ccctggagga ggtgaccgtg gccgaagtcc tggctgcccg
      721 aggctacctc acaggaatgg ccggcaagtg gcaccttggg gtggggcctg agggggcctt
      781 cctgcccccc catcagggct tccatcgatt tctaggcatc ccgtactccc acgaccaggg
      841 cccctgccag aacctgacct gcttcccgcc ggccactcct tgcgacggtg gctgtgacca
      901 gggcctggtc cccatcccac tgttggccaa cctgtccgtg gaggcgcagc ccccctggct
      961 gcccggacta gaggcccgct acatggcttt cgcccatgac ctcatggccg acgcccagcg
     1021 ccaggatcgc cccttcttcc tgtactatgc ctctcaccac acccactacc ctcagttcag
     1081 tgggcagagc tttgcagagc gttcaggccg cgggccattt ggggactccc tgatggagct
     1141 ggatgcagct gtggggaccc tgatgacagc cataggggac ctggggctgc ttgaagagac
     1201 gctggtcatc ttcactgcag acaatggacc tgagaccatg cgtatgtccc gaggcggctg
     1261 ctccggtctc ttgcggtgtg gaaagggaac gacctacgag ggcggtgtcc gagagcctgc
     1321 cttggccttc tggccaggtc atatcgctcc cggcgtgacc cacgagctgg ccagctccct
     1381 ggacctgctg cctaccctgg cagccctggc tggggcccca ctgcccaatg tcaccttgga
     1441 tggctttgac ctcagccccc tgctgctggg cacaggcaag agccctcggc agtctctctt
     1501 cttctacccg tcctacccag acgaggtccg tggggttttt gctgtgcgga ctggaaagta
     1561 caaggctcac ttcttcaccc agggctctgc ccacagtgat accactgcag accctgcctg
     1621 ccacgcctcc agctctctga ctgctcatga gcccccgctg ctctatgacc tgtccaagga
     1681 ccctggtgag aactacaacc tgctgggggg tgtggccggg gccaccccag aggtgctgca
     1741 agccctgaaa cagcttcagc tgctcaaggc ccagttagac gcagctgtga ccttcggccc
     1801 cagccaggtg gcccggggcg aggaccccgc cctgcagatc tgctgtcatc ctggctgcac
     1861 cccccgccca gcttgctgcc attgcccaga tccccatgcc tgagggcccc tcggctggcc
     1921 tgggcatgtg atggctcctc actgggagcc tgtgggggag gctcaggtgt ctggaggggg
     1981 tttgtgcctg ataacgtaat aacaccagtg gagacttgca gatgtgacaa ttcgtccaat
     2041 cctggggtaa tgctgtgtgc tggtgccggt cccctgtggt acgaatgagg aaactgaggt
     2101 gcagagaggt tcaggacttg tacaagatca cccagccaga aagaggttgg gctgggattt
     2161 gaaccctggt gtcgtggctc tggaagctgc cctggcgcct tggtgatctg cgtgggtcag
     2221 tgcacacagg cacacgtcag cctcaaggac atgggcacat ctgttcacag gagcagcgcc
     2281 acgtgccttt gagtgccagg aacggggtgg gagggtggga gggtgtgagg gccagaagac
     2341 tcagaagatg caaagtgcct gagagagacg ggatattccc ccagaagaag cattcttaga
     2401 gacacaggca ctggacctcc ttggttctta taagaaacct gtctgaagct gggtgatgag
     2461 ttgcacactc caggtggggc taaggggcct ggagcccctg ctggctccta ggaaggcaca
     2521 gcagcaggcc ctgagacggc tcctctgggg cccctccacc ctcccaggcc tctgcatttc
     2581 acctgtgccc acacttctgt ctcctgcctt caccttttga cccactacta acgattctcc
     2641 acccagcaga caaagtgatc tcttaaaaat atctgttggc tgggcacggt ggctcacgcc
     2701 tgtaatccca gcactttagg aagccgaggc gggtggatca cctgaggtcg ggagttcgag
     2761 accagcctga ccaacatgga gaaaccccat ctctactaaa aatacaaaat tagccaggtg
     2821 tagtggtgca tccctgtaat cccagctact tgggagtctg aggctggaga atcacttgaa
     2881 cctgggaggc ggtggttgca gtgagccgag atcgcaccat tgcactccag cctgggcaac
     2941 aagagaaaaa ctctgtctca aaaaacaaaa aatctgttag gctgcacacg gcgattcact
     3001 cctgtattcc cagtgctttg ggaggctgag gtgagaggat gcctgaggcc aggaattcag
     3061 accagcctgg gcaacatagt gagaccccag ctctaaagat ttgtttttgt tttttttttt
     3121 tttttttttt tttttttttt tttttttttg agacggagtc tcgctctgtc gcccaggcta
     3181 gagtgcagtg gtaccatctc cgctcactgc aacctccgcc tcccgggttc cagggattct
     3241 cctgcctcag cctccctagt agctggaact acaggtgtgt gctgccatgc ccagctaatt
     3301 tttttttatt taatagagac aagatttcac catgttggcc aggctggtct caaactcctg
     3361 acctcaggtg atccacccgc ctcagcctcc caaagtgctg ggattacagg tgtgaaccac
     3421 cacacctggc caacaatatt tgttttaatt agccaggcgt ggtagcattt gtcctagcaa
     3481 tttgggaggt tgaggtggga gaatcacttc agcccactag gtcgaggctg tagtgagcta
     3541 taattgtacc actgcactcc agcctcgggg acagagtgag accctgtctg caaataaaca
     3601 aataaaacat caggctgggc ttgagcatct attcctgctc aaaatttcgc aggcttctca
     3661 gaagaaaatc caaacccctt acagtgaccc agtttgccct tgaggcctcc acccacaccc
     3721 ccttcccccc agtcttaggg ggtggcctgg ctgttccctt caacggcaac gctctgcctc
     3781 cattgttggc ctcctctgca gggagggact gtctgagcac ctgcccgtgt ctgtgcagca
     3841 tggcacactg acgtcaggcc cacgtgcatg cccaggtggc cagtcacacg ccaggtgctc
     3901 cctcagtgtt ggccaagtga gaggagcaca ccttccgggc gttcagacac ctccccgtgg
     3961 cagacaccgt tcgttgctac caaacagcca cctccttcct aatgggctcc catttttcag
     4021 tgctgggcaa aggtcccttg atcttggagt tgcagcctct ttctctccaa ggagggcggt
     4081 gaccagcctg agccagtcaa tccagtgatt ggttcaggag tagcctgtga ccaggagtcc
     4141 tggtagtgaa cgactggggc agccctgggg gtgaggacct tgcgcagccg tcacaggccc
     4201 tgattggaca ctgggcagct gctaacccag tgtctccagc tgcctacctg gagagctcca
     4261 agcgtaagaa aataaaccct gcctgttgaa gcca
//
LOCUS       NM_000488               1552 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens serpin family C member 1 (SERPINC1), transcript variant
            1, mRNA.
ACCESSION   NM_000488
VERSION     NM_000488.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1552)
  AUTHORS   Natorska J, Corral J, de la Morena-Barrio ME, Bravo-Perez C, Bagoly
            Z, Bereczky Z, Trelinski J, Witkowski M, Klajmon A, Undas A and
            Zabczyk M.
  TITLE     Antithrombin Deficiency Is Associated with Prothrombotic Plasma
            Fibrin Clot Phenotype
  JOURNAL   Thromb Haemost 123 (9), 880-891 (2023)
   PUBMED   37201530
  REMARK    GeneRIF: Antithrombin Deficiency Is Associated with Prothrombotic
            Plasma Fibrin Clot Phenotype.
REFERENCE   2  (bases 1 to 1552)
  AUTHORS   Pejkova MA, Ivanova E, Sadilek P, Maly R, Thibaud Z and Dulicek P.
  TITLE     Antithrombin Deficiency: Frequency in Patients with Thrombosis and
            Thrombophilic Families
  JOURNAL   Acta Medica (Hradec Kralove) 66 (1), 19-23 (2023)
   PUBMED   37384805
  REMARK    GeneRIF: Antithrombin Deficiency: Frequency in Patients with
            Thrombosis and Thrombophilic Families.
REFERENCE   3  (bases 1 to 1552)
  AUTHORS   Mir N, D'Amico A, Dasher J, Tolwani A and Valentine V.
  TITLE     Understanding the andromeda strain - The role of cytokine release,
            coagulopathy and antithrombin III in SARS-CoV2 critical illness
  JOURNAL   Blood Rev 45, 100731 (2021)
   PUBMED   32829961
  REMARK    GeneRIF: Understanding the andromeda strain - The role of cytokine
            release, coagulopathy and antithrombin III in SARS-CoV2 critical
            illness. Review article
REFERENCE   4  (bases 1 to 1552)
  AUTHORS   Corral J, de la Morena-Barrio ME and Vicente V.
  TITLE     The genetics of antithrombin
  JOURNAL   Thromb Res 169, 23-29 (2018)
   PUBMED   30005274
  REMARK    GeneRIF: Molecular analysis may be the best method to identify
            antithrombin deficiency. Up to 80% of patients with antithrombin
            deficiency have SERPINC1 gene defects, mostly (90% of the 315 gene
            defects described so far) point mutations or small deletions or
            insertions affecting the 7 exons or flanking regions. [review]
            Review article
REFERENCE   5  (bases 1 to 1552)
  AUTHORS   Lu Z, Wang F and Liang M.
  TITLE     SerpinC1/Antithrombin III in kidney-related diseases
  JOURNAL   Clin Sci (Lond) 131 (9), 823-831 (2017)
   PUBMED   28424376
  REMARK    GeneRIF: Studies indicate that antithrombin III (ATIII) and its gene
            SerpinC1 may be related to many diseases, including hypertension and
            kidney diseases. Review article
REFERENCE   6  (bases 1 to 1552)
  AUTHORS   Labarrere CA, Pitts D, Halbrook H and Faulk WP.
  TITLE     Natural anticoagulant pathways in normal and transplanted human
            hearts
  JOURNAL   J Heart Lung Transplant 11 (2 Pt 1), 342-347 (1992)
   PUBMED   1315572
REFERENCE   7  (bases 1 to 1552)
  AUTHORS   Prochownik,E.V., Bock,S.C. and Orkin,S.H.
  TITLE     Intron structure of the human antithrombin III gene differs from
            that of other members of the serine protease inhibitor superfamily
  JOURNAL   J Biol Chem 260 (17), 9608-9612 (1985)
   PUBMED   2991253
REFERENCE   8  (bases 1 to 1552)
  AUTHORS   Prochownik,E.V., Markham,A.F. and Orkin,S.H.
  TITLE     Isolation of a cDNA clone for human antithrombin III
  JOURNAL   J Biol Chem 258 (13), 8389-8394 (1983)
   PUBMED   6305982
REFERENCE   9  (bases 1 to 1552)
  AUTHORS   Chandra,T., Stackhouse,R., Kidd,V.J. and Woo,S.L.
  TITLE     Isolation and sequence characterization of a cDNA clone of human
            antithrombin III
  JOURNAL   Proc Natl Acad Sci U S A 80 (7), 1845-1848 (1983)
   PUBMED   6572945
REFERENCE   10  (bases 1 to 1552)
  AUTHORS   Bock,S.C., Wion,K.L., Vehar,G.A. and Lawn,R.M.
  TITLE     Cloning and expression of the cDNA for human antithrombin III
  JOURNAL   Nucleic Acids Res 10 (24), 8113-8125 (1982)
   PUBMED   6298709
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK312654.1, SRR5189667.148850.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in cytokine storm inflammatory
            response
            MANE Ensembl match          :: ENST00000367698.4/ ENSP00000356671.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136170.14.
            On Jun 3, 2020 this sequence version replaced NM_000488.3.
            Summary: The protein encoded by this gene, antithrombin III, is a
            plasma protease inhibitor and a member of the serpin superfamily.
            This protein inhibits thrombin as well as other activated serine
            proteases of the coagulation system, and it regulates the blood
            coagulation cascade. The protein includes two functional domains:
            the heparin binding-domain at the N-terminus of the mature protein,
            and the reactive site domain at the C-terminus. The inhibitory
            activity is enhanced by the presence of heparin. Numerous mutations
            have been identified for this gene, many of which are known to
            cause antithrombin-III deficiency which constitutes a strong risk
            factor for thrombosis. A reduction in the serum level of this
            protein is associated with severe cases of Coronavirus Disease 19
            (COVID-19). [provided by RefSeq, Sep 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1552
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.1"
     gene            1..1552
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="serpin family C member 1"
                     /db_xref="GeneID:462"
                     /db_xref="HGNC:HGNC:775"
                     /db_xref="MIM:107300"
     CDS             69..1463
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; serine (or cysteine) proteinase inhibitor, clade C
                     (antithrombin), member 1; antithrombin-III; serpin
                     peptidase inhibitor clade C member 1; serpin peptidase
                     inhibitor, clade C (antithrombin), member 1"
                     /codon_start=1
                     /product="antithrombin-III isoform 1 precursor"
                     /protein_id="NP_000479.1"
                     /db_xref="CCDS:CCDS1313.1"
                     /db_xref="GeneID:462"
                     /db_xref="HGNC:HGNC:775"
                     /db_xref="MIM:107300"
                     /translation="MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTCHGSPVDICTAKPR
                     DIPMNPMCIYRSPEKKATEDEGSEQKIPEATNRRVWELSKANSRFATTFYQHLADSKND
                     NDNIFLSPLSISTAFAMTKLGACNDTLQQLMEVFKFDTISEKTSDQIHFFFAKLNCRLY
                     RKANKSSKLVSANRLFGDKSLTFNETYQDISELVYGAKLQPLDFKENAEQSRAAINKWV
                     SNKTEGRITDVIPSEAINELTVLVLVNTIYFKGLWKSKFSPENTRKELFYKADGESCSA
                     SMMYQEGKFRYRRVAEGTQVLELPFKGDDITMVLILPKPEKSLAKVEKELTPEVLQEWL
                     DELEEMMLVVHMPRFRIEDGFSLKEQLQDMGLVDLFSPEKSKLPGIVAEGRDDLYVSDA
                     FHKAFLEVNEEGSEAAASTAVVIAGRSLNPNRVTFKANRPFLVFIREVPLNTIIFMGRV
                     ANPCVK"
     sig_peptide     69..164
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
     mat_peptide     165..1460
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /product="antithrombin-III isoform 1"
     misc_feature    255..257
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="Phosphothreonine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P01008.1); phosphorylation site"
     misc_feature    270..272
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P01008.1); phosphorylation site"
     misc_feature    450..452
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218,
                     ECO:0000269|Ref.10; propagated from UniProtKB/Swiss-Prot
                     (P01008.1); glycosylation site"
     misc_feature    567..569
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|Ref.10; propagated from
                     UniProtKB/Swiss-Prot (P01008.1); glycosylation site"
     misc_feature    627..629
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:15084671, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19838169,
                     ECO:0000269|Ref.10; propagated from UniProtKB/Swiss-Prot
                     (P01008.1); glycosylation site"
     misc_feature    738..740
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16263699,
                     ECO:0000269|PubMed:16335952, ECO:0000269|Ref.10; propagated
                     from UniProtKB/Swiss-Prot (P01008.1); glycosylation site"
     misc_feature    1341..1346
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="Reactive bond. /evidence=ECO:0000269|PubMed:7238875;
                     propagated from UniProtKB/Swiss-Prot (P01008.1); other
                     site"
     regulatory      1518..1523
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="hexamer: AATAAA"
     regulatory      1522..1527
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="hexamer: AATACA"
     polyA_site      1543
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
                     /note="major polyA site"
     polyA_site      1552
                     /gene="SERPINC1"
                     /gene_synonym="AT3; AT3D; ATIII; ATIII-R2; ATIII-T1;
                     ATIII-T2; THPH7"
ORIGIN
        1 agttttcagg cggattgcct cagatcacac tatctccact tgcccagccc tgtggaagat
       61 tagcggccat gtattccaat gtgataggaa ctgtaacctc tggaaaaagg aaggtttatc
      121 ttttgtcctt gctgctcatt ggcttctggg actgcgtgac ctgtcacggg agccctgtgg
      181 acatctgcac agccaagccg cgggacattc ccatgaatcc catgtgcatt taccgctccc
      241 cggagaagaa ggcaactgag gatgagggct cagaacagaa gatcccggag gccaccaacc
      301 ggcgtgtctg ggaactgtcc aaggccaatt cccgctttgc taccactttc tatcagcacc
      361 tggcagattc caagaatgac aatgataaca ttttcctgtc acccctgagt atctccacgg
      421 cttttgctat gaccaagctg ggtgcctgta atgacaccct ccagcaactg atggaggtat
      481 ttaagtttga caccatatct gagaaaacat ctgatcagat ccacttcttc tttgccaaac
      541 tgaactgccg actctatcga aaagccaaca aatcctccaa gttagtatca gccaatcgcc
      601 tttttggaga caaatccctt accttcaatg agacctacca ggacatcagt gagttggtat
      661 atggagccaa gctccagccc ctggacttca aggaaaatgc agagcaatcc agagcggcca
      721 tcaacaaatg ggtgtccaat aagaccgaag gccgaatcac cgatgtcatt ccctcggaag
      781 ccatcaatga gctcactgtt ctggtgctgg ttaacaccat ttacttcaag ggcctgtgga
      841 agtcaaagtt cagccctgag aacacaagga aggaactgtt ctacaaggct gatggagagt
      901 cgtgttcagc atctatgatg taccaggaag gcaagttccg ttatcggcgc gtggctgaag
      961 gcacccaggt gcttgagttg cccttcaaag gtgatgacat caccatggtc ctcatcttgc
     1021 ccaagcctga gaagagcctg gccaaggtag agaaggaact caccccagag gtgctgcaag
     1081 agtggctgga tgaattggag gagatgatgc tggtggtcca catgccccgc ttccgcattg
     1141 aggacggctt cagtttgaag gagcagctgc aagacatggg ccttgtcgat ctgttcagcc
     1201 ctgaaaagtc caaactccca ggtattgttg cagaaggccg agatgacctc tatgtctcag
     1261 atgcattcca taaggcattt cttgaggtaa atgaagaagg cagtgaagca gctgcaagta
     1321 ccgctgttgt gattgctggc cgttcgctaa accccaacag ggtgactttc aaggccaaca
     1381 ggcctttcct ggtttttata agagaagttc ctctgaacac tattatcttc atgggcagag
     1441 tagccaaccc ttgtgttaag taaaatgttc ttattctttg cacctcttcc tatttttggt
     1501 ttgtgaacag aagtaaaaat aaatacaaac tacttccatc tcacattata aa
//
LOCUS       NM_000489              11165 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens ATRX chromatin remodeler (ATRX), transcript variant 1,
            mRNA.
ACCESSION   NM_000489
VERSION     NM_000489.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 11165)
  AUTHORS   Udroiu I, Marinaccio J and Sgura A.
  TITLE     Inhibition of p53 and ATRX increases telomeric recombination in
            primary fibroblasts
  JOURNAL   FEBS Open Bio 13 (9), 1683-1698 (2023)
   PUBMED   37499040
  REMARK    GeneRIF: Inhibition of p53 and ATRX increases telomeric
            recombination in primary fibroblasts.
REFERENCE   2  (bases 1 to 11165)
  AUTHORS   van Gerven MR, Schild L, van Arkel J, Koopmans B, Broeils LA, Meijs
            LAM, van Oosterhout R, van Noesel MM, Koster J, van Hooff SR,
            Molenaar JJ and van den Boogaard ML.
  TITLE     Two opposing gene expression patterns within ATRX aberrant
            neuroblastoma
  JOURNAL   PLoS One 18 (8), e0289084 (2023)
   PUBMED   37540673
  REMARK    GeneRIF: Two opposing gene expression patterns within ATRX aberrant
            neuroblastoma. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 11165)
  AUTHORS   Tillotson R, Yan K, Ruston J, DeYoung T, Cordova A, Turcotte-Cardin
            V, Yee Y, Taylor C, Visuvanathan S, Babbs C, Ivakine EA, Sled JG,
            Nieman BJ, Picketts DJ and Justice MJ.
  TITLE     A new mouse model of ATR-X syndrome carrying a common patient
            mutation exhibits neurological and morphological defects
  JOURNAL   Hum Mol Genet 32 (15), 2485-2501 (2023)
   PUBMED   37171606
  REMARK    GeneRIF: A new mouse model of ATR-X syndrome carrying a common
            patient mutation exhibits neurological and morphological defects.
REFERENCE   4  (bases 1 to 11165)
  AUTHORS   Gibbons RJ, Wada T, Fisher CA, Malik N, Mitson MJ, Steensma DP,
            Fryer A, Goudie DR, Krantz ID and Traeger-Synodinos J.
  TITLE     Mutations in the chromatin-associated protein ATRX
  JOURNAL   Hum Mutat 29 (6), 796-802 (2008)
   PUBMED   18409179
  REMARK    GeneRIF: Mutations in ATRX have been shown to perturb gene
            expression and DNA methylation; this is a report of 127 mutations
            including 32 reported here for the first time.
REFERENCE   5  (bases 1 to 11165)
  AUTHORS   Villard L, Bonino MC, Abidi F, Ragusa A, Belougne J, Lossi AM,
            Seaver L, Bonnefont JP, Romano C, Fichera M, Lacombe D, Hanauer A,
            Philip N, Schwartz C and Fontes M.
  TITLE     Evaluation of a mutation screening strategy for sporadic cases of
            ATR-X syndrome
  JOURNAL   J Med Genet 36 (3), 183-186 (1999)
   PUBMED   10204841
REFERENCE   6  (bases 1 to 11165)
  AUTHORS   Stayton CL, Dabovic B, Gulisano M, Gecz J, Broccoli V, Giovanazzi S,
            Bossolasco M, Monaco L, Rastan S, Boncinelli E et al.
  TITLE     Cloning and characterization of a new human Xq13 gene, encoding a
            putative helicase
  JOURNAL   Hum Mol Genet 3 (11), 1957-1964 (1994)
   PUBMED   7874112
REFERENCE   7  (bases 1 to 11165)
  AUTHORS   Stevenson,R.E.
  TITLE     Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301622
REFERENCE   8  (bases 1 to 11165)
  AUTHORS   Gibbons RJ, Suthers GK, Wilkie AO, Buckle VJ and Higgs DR.
  TITLE     X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome:
            localization to Xq12-q21.31 by X inactivation and linkage analysis
  JOURNAL   Am J Hum Genet 51 (5), 1136-1149 (1992)
   PUBMED   1415255
REFERENCE   9  (bases 1 to 11165)
  AUTHORS   Mulley JC, Kerr B, Stevenson R and Lubs H.
  TITLE     Nomenclature guidelines for X-linked mental retardation
  JOURNAL   Am J Med Genet 43 (1-2), 383-391 (1992)
   PUBMED   1605216
  REMARK    Review article
REFERENCE   10  (bases 1 to 11165)
  AUTHORS   Ades LC, Kerr B, Turner G and Wise G.
  TITLE     Smith-Fineman-Myers syndrome in two brothers
  JOURNAL   Am J Med Genet 40 (4), 467-470 (1991)
   PUBMED   1684092
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U72937.2, SRR1803612.85173.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000373344.11/ ENSP00000362441.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138743.6, AC233293.2 and
            AC233305.2.
            On Feb 14, 2020 this sequence version replaced NM_000489.5.
            Summary: The protein encoded by this gene contains an
            ATPase/helicase domain, and thus it belongs to the SWI/SNF family
            of chromatin remodeling proteins. This protein is found to undergo
            cell cycle-dependent phosphorylation, which regulates its nuclear
            matrix and chromatin association, and suggests its involvement in
            the gene regulation at interphase and chromosomal segregation in
            mitosis. Mutations in this gene are associated with X-linked
            syndromes exhibiting cognitive disabilities as well as
            alpha-thalassemia (ATRX) syndrome. These mutations have been shown
            to cause diverse changes in the pattern of DNA methylation, which
            may provide a link between chromatin remodeling, DNA methylation,
            and gene expression in developmental processes. Multiple
            alternatively spliced transcript variants encoding distinct
            isoforms have been reported. [provided by RefSeq, Jul 2017].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..11165
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.1"
     gene            1..11165
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="ATRX chromatin remodeler"
                     /db_xref="GeneID:546"
                     /db_xref="HGNC:HGNC:886"
                     /db_xref="MIM:300032"
     misc_feature    114..116
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="upstream in-frame stop codon"
     CDS             216..7694
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /EC_number="3.6.4.12"
                     /note="isoform 1 is encoded by transcript variant 1;
                     X-linked nuclear protein; transcriptional regulator ATRX;
                     X-linked helicase II; ATP-dependent helicase ATRX"
                     /codon_start=1
                     /product="transcriptional regulator ATRX isoform 1"
                     /protein_id="NP_000480.3"
                     /db_xref="CCDS:CCDS14434.1"
                     /db_xref="GeneID:546"
                     /db_xref="HGNC:HGNC:886"
                     /db_xref="MIM:300032"
                     /translation="MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTD
                     KISGSGSNSDMMENSKEEGTSSSEKSKSSGSSRSKRKPSIVTKYVESDDEKPLDDETVN
                     EDASNENSENDITMQSLPKGTVIVQPEPVLNEDKDDFKGPEFRSRSKMKTENLKKRGED
                     GLHGIVSCTACGQQVNHFQKDSIYRHPSLQVLICKNCFKYYMSDDISRDSDGMDEQCRW
                     CAEGGNLICCDFCHNAFCKKCILRNLGRKELSTIMDENNQWYCYICHPEPLLDLVTACN
                     SVFENLEQLLQQNKKKIKVDSEKSNKVYEHTSRFSPKKTSSNCNGEEKKLDDSCSGSVT
                     YSYSALIVPKEMIKKAKKLIETTANMNSSYVKFLKQATDNSEISSATKLRQLKAFKSVL
                     ADIKKAHLALEEDLNSEFRAMDAVNKEKNTKEHKVIDAKFETKARKGEKPCALEKKDIS
                     KSEAKLSRKQVDSEHMHQNVPTEEQRTNKSTGGEHKKSDRKEEPQYEPANTSEDLDMDI
                     VSVPSSVPEDIFENLETAMEVQSSVDHQGDGSSGTEQEVESSSVKLNISSKDNRGGIKS
                     KTTAKVTKELYVKLTPVSLSNSPIKGADCQEVPQDKDGYKSCGLNPKLEKCGLGQENSD
                     NEHLVENEVSLLLEESDLRRSPRVKTTPLRRPTETNPVTSNSDEECNETVKEKQKLSVP
                     VRKKDKRNSSDSAIDNPKPNKLPKSKQSETVDQNSDSDEMLAILKEVSRMSHSSSSDTD
                     INEIHTNHKTLYDLKTQAGKDDKGKRKRKSSTSGSDFDTKKGKSAKSSIISKKKRQTQS
                     ESSNYDSELEKEIKSMSKIGAARTTKKRIPNTKDFDSSEDEKHSKKGMDNQGHKNLKTS
                     QEGSSDDAERKQERETFSSAEGTVDKDTTIMELRDRLPKKQQASASTDGVDKLSGKEES
                     FTSLEVRKVAETKEKSKHLKTKTCKKVQDGLSDIAEKFLKKDQSDETSEDDKKQSKKGT
                     EEKKKPSDFKKKVIKMEQQYESSSDGTEKLPEREEICHFPKGIKQIKNGTTDGEKKSKK
                     IRDKTSKKKDELSDYAEKSTGKGDSCDSSEDKKSKNGAYGREKKRCKLLGKSSRKRQDC
                     SSSDTEKYSMKEDGCNSSDKRLKRIELRERRNLSSKRNTKEIQSGSSSSDAEESSEDNK
                     KKKQRTSSKKKAVIVKEKKRNSLRTSTKRKQADITSSSSSDIEDDDQNSIGEGSSDEQK
                     IKPVTENLVLSSHTGFCQSSGDEALSKSVPVTVDDDDDDNDPENRIAKKMLLEEIKANL
                     SSDEDGSSDDEPEEGKKRTGKQNEENPGDEEAKNQVNSESDSDSEESKKPRYRHRLLRH
                     KLTVSDGESGEEKKTKPKEHKEVKGRNRRKVSSEDSEDSDFQESGVSEEVSESEDEQRP
                     RTRSAKKAELEENQRSYKQKKKRRRIKVQEDSSSENKSNSEEEEEEKEEEEEEEEEEEE
                     EEEDENDDSKSPGKGRKKIRKILKDDKLRTETQNALKEEEERRKRIAEREREREKLREV
                     IEIEDASPTKCPITTKLVLDEDEETKEPLVQVHRNMVIKLKPHQVDGVQFMWDCCCESV
                     KKTKKSPGSGCILAHCMGLGKTLQVVSFLHTVLLCDKLDFSTALVVCPLNTALNWMNEF
                     EKWQEGLKDDEKLEVSELATVKRPQERSYMLQRWQEDGGVMIIGYEMYRNLAQGRNVKS
                     RKLKEIFNKALVDPGPDFVVCDEGHILKNEASAVSKAMNSIRSRRRIILTGTPLQNNLI
                     EYHCMVNFIKENLLGSIKEFRNRFINPIQNGQCADSTMVDVRVMKKRAHILYEMLAGCV
                     QRKDYTALTKFLPPKHEYVLAVRMTSIQCKLYQYYLDHLTGVGNNSEGGRGKAGAKLFQ
                     DFQMLSRIWTHPWCLQLDYISKENKGYFDEDSMDEFIASDSDETSMSLSSDDYTKKKKK
                     GKKGKKDSSSSGSGSDNDVEVIKVWNSRSRGGGEGNVDETGNNPSVSLKLEESKATSSS
                     NPSSPAPDWYKDFVTDADAEVLEHSGKMVLLFEILRMAEEIGDKVLVFSQSLISLDLIE
                     DFLELASREKTEDKDKPLIYKGEGKWLRNIDYYRLDGSTTAQSRKKWAEEFNDETNVRG
                     RLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRVYRFGQTKPVYVYRFLAQG
                     TMEDKIYDRQVTKQSLSFRVVDQQQVERHFTMNELTELYTFEPDLLDDPNSEKKKKRDT
                     PMLPKDTILAELLQIHKEHIVGYHEHDSLLDHKEEEELTEEERKAAWAEYEAEKKGLTM
                     RFNIPTGTNLPPVSFNSQTPYIPFNLGALSAMSNQQLEDLINQGREKVVEATNSVTAVR
                     IQPLEDIISAVWKENMNLSEAQVQALALSRQASQELDVKRREAIYNDVLTKQQMLISCV
                     QRILMNRRLQQQYNQQQQQQMTYQQATLGHLMMPKPPNLIMNPSNYQQIDMRGMYQPVA
                     GGMQPPPLQRAPPPMRSKNPGPSQGKSM"
     misc_feature    216..656
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P46100.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    288..290
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    315..317
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    480..482
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    489..491
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    549..551
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    852..854
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61687; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    1161..1163
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    1548..1763
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P46100.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1818..1943
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P46100.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1956..1997
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P46100.6);
                     Region: PxVxL motif"
     misc_feature    1986..1988
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    1992..2063
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P46100.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1995..1997
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    2007..2009
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P46100.6);
                     phosphorylation site"
     misc_feature    2115..2117
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    2160..3083
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P46100.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2235..2237
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    2238..2240
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    2244..2246
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    2400..2402
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    2406..2408
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    2565..2567
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61687; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    2670..2672
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    2760..2762
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    2763..2765
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    2838..2840
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    2841..2843
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    2880..2882
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    3099..3101
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    3114..3116
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); acetylation site"
     misc_feature    3117..4652
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P46100.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3135..3137
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    3144..3146
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    3246..3248
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70486; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    3249..3251
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70486; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    3252..3254
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70486; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    3396..3398
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P46100.6);
                     phosphorylation site"
     misc_feature    3402..3404
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    3780..4193
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P46100.6);
                     Region: Interaction with DAXX"
     misc_feature    3945..3947
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61687; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    3948..3950
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61687; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    3972..3974
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61687; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    4179..4181
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    4185..4187
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    4191..4193
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    4257..4259
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    4269..4271
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P46100.6);
                     phosphorylation site"
     misc_feature    4794..4796
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    4800..4802
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    5370..5381
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P46100.6);
                     Region: DEGH box"
     misc_feature    5931..5933
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61687; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    5952..6215
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P46100.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5952..5954
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61687; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    6189..6191
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    6201..6203
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (P46100.6);
                     phosphorylation site"
     misc_feature    6243..7055
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P46100.6);
                     Region: Interaction with MECP2.
                     /evidence=ECO:0000269|PubMed:17296936"
     misc_feature    6873..6875
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); phosphorylation site"
     misc_feature    7599..7691
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P46100.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    7635..7637
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q61687; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); methylation site"
     misc_feature    7653..7655
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q61687; propagated from
                     UniProtKB/Swiss-Prot (P46100.6); methylation site"
     regulatory      10313..10318
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="hexamer: AATAAA"
     polyA_site      10332
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="major polyA site"
     polyA_site      10547
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="major polyA site"
     regulatory      11143..11148
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
                     /note="hexamer: AATAAA"
     polyA_site      11165
                     /gene="ATRX"
                     /gene_synonym="JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX"
ORIGIN
        1 ctcggcccaa caaaatggcg gcggcagcgg tgtcgctttg tttccgcggc tcctgcggcg
       61 gtggcagtgg tagcggcctt tgagctgtgg ggaggttcca gcagcagcta cagtgacgac
      121 taagactcca gtgcatttct atcgtaaccg ggcgcggggg agcgcagatc ggcgcccagc
      181 aatcacagaa gccgacaagg cgttcaagcg aaaacatgac cgctgagccc atgagtgaaa
      241 gcaagttgaa tacattggtg cagaagcttc atgacttcct tgcacactca tcagaagaat
      301 ctgaagaaac aagttctcct ccacgacttg caatgaatca aaacacagat aaaatcagtg
      361 gttctggaag taactctgat atgatggaaa acagcaagga agagggaact agctcttcag
      421 aaaaatccaa gtcttcagga tcgtcacgat caaagaggaa accttcaatt gtaacaaagt
      481 atgtagaatc agatgatgaa aaacctttgg atgatgaaac tgtaaatgaa gatgcgtcta
      541 atgaaaattc agaaaatgat attactatgc agagcttgcc aaaaggtaca gtgattgtac
      601 agccagagcc agtgctgaat gaagacaaag atgattttaa agggcctgaa tttagaagca
      661 gaagtaaaat gaaaactgaa aatctcaaaa aacgcggaga agatgggctt catgggattg
      721 tgagctgcac tgcttgtgga caacaggtca atcattttca aaaagattcc atttatagac
      781 acccttcatt gcaagttctt atttgtaaga attgctttaa gtattacatg agtgatgata
      841 ttagccgtga ctcagatgga atggatgaac aatgtaggtg gtgtgcggaa ggtggaaact
      901 tgatttgttg tgacttttgc cataatgctt tctgcaagaa atgcattcta cgcaaccttg
      961 gtcgaaagga gttgtccaca ataatggatg aaaacaacca atggtattgc tacatttgtc
     1021 acccagagcc tttgttggac ttggtcactg catgtaacag cgtatttgag aatttagaac
     1081 agttgttgca gcaaaataag aagaagataa aagttgacag tgaaaagagt aataaagtat
     1141 atgaacatac atccagattt tctccaaaga agactagttc aaattgtaat ggagaagaaa
     1201 agaaattaga tgattcctgt tctggctctg taacctactc ttattccgca ctaattgtgc
     1261 ccaaagagat gattaagaag gcaaaaaaac tgattgagac cacagccaac atgaactcca
     1321 gttatgttaa atttttaaag caggcaacag ataattcaga aatcagttct gctacaaaat
     1381 tacgtcagct taaggctttt aagtctgtgt tggctgatat taagaaggct catcttgcat
     1441 tggaagaaga cttaaattcc gagtttcgag cgatggatgc tgtaaacaaa gagaaaaata
     1501 ccaaagagca taaagtcata gatgctaagt ttgaaacaaa agcacgaaaa ggagaaaaac
     1561 cttgtgcttt ggaaaagaag gatatttcaa agtcagaagc taaactttca agaaaacagg
     1621 tagatagtga gcacatgcat cagaatgttc caacagagga acaaagaaca aataaaagta
     1681 ccggtggtga acataagaaa tctgatagaa aagaagaacc tcaatatgaa cctgccaaca
     1741 cttctgaaga tttagacatg gatattgtgt ctgttccttc ctcagttcca gaagacattt
     1801 ttgagaatct tgagactgct atggaagttc agagttcagt tgatcatcaa ggggatggca
     1861 gcagtggaac tgaacaagaa gtggagagtt catctgtaaa attaaatatt tcttcaaaag
     1921 acaacagagg aggtattaaa tcaaaaacta cagctaaagt aacaaaagaa ttatatgtta
     1981 aactcactcc tgtttccctt tctaattccc caattaaagg tgctgattgt caggaagttc
     2041 cacaagataa agatggctat aaaagttgtg gtctgaaccc caagttagag aaatgtggac
     2101 ttggacagga aaacagtgat aatgagcatt tggttgaaaa tgaagtttca ttacttttag
     2161 aggaatctga tcttcgaaga tccccacgtg taaagactac acccttgagg cgaccgacag
     2221 aaactaaccc tgtaacatct aattcagatg aagaatgtaa tgaaacagtt aaggagaaac
     2281 aaaaactatc agttccagtg agaaaaaagg ataagcgtaa ttcttctgac agtgctatag
     2341 ataatcctaa gcctaataaa ttgccaaaat ctaagcaatc agagactgtg gatcaaaatt
     2401 cagattctga tgaaatgcta gcaatcctca aagaggtgag caggatgagt cacagttctt
     2461 cttcagatac tgatattaat gaaattcata caaaccataa gactttgtat gatttaaaga
     2521 ctcaggcggg gaaagatgat aaaggaaaaa ggaaacgaaa aagttctaca tctggctcag
     2581 attttgatac taaaaagggc aaatcagcta agagctctat aatttctaaa aagaaacgac
     2641 aaacccagtc tgagtcttct aattatgact cagaattaga aaaagagata aagagcatga
     2701 gtaaaattgg tgctgccaga accaccaaaa aaagaattcc aaatacaaaa gattttgact
     2761 cttctgaaga tgagaaacac agcaaaaaag gaatggataa tcaagggcac aaaaatttga
     2821 agacctcaca agaaggatca tctgatgatg ctgaaagaaa acaagagaga gagactttct
     2881 cttcagcaga aggcacagtt gataaagaca cgaccatcat ggaattaaga gatcgacttc
     2941 ctaagaagca gcaagcaagt gcttccactg atggtgtcga taagctttct gggaaagagg
     3001 agagttttac ttctttggaa gttagaaaag ttgctgaaac taaagaaaag agcaagcatc
     3061 tcaaaaccaa aacatgtaaa aaagtacagg atggcttatc tgatattgca gagaaattcc
     3121 taaagaaaga ccagagcgat gaaacttctg aagatgataa aaagcagagc aaaaagggaa
     3181 ctgaagaaaa aaagaaacct tcagacttta agaaaaaagt aattaaaatg gaacaacagt
     3241 atgaatcttc atctgatggc actgaaaagt tacctgagcg agaagaaatt tgtcattttc
     3301 ctaagggcat aaaacaaatt aagaatggaa caactgatgg agaaaagaaa agtaaaaaaa
     3361 taagagataa aacttctaaa aagaaggatg aattatctga ttatgctgag aagtcaacag
     3421 ggaaaggaga tagttgtgac tcttcagagg ataaaaagag taagaatgga gcatatggta
     3481 gagagaagaa aaggtgcaag ttgcttggaa agagttcaag gaagagacaa gattgttcat
     3541 catctgatac tgagaaatat tccatgaaag aagatggttg taactcttct gataagagac
     3601 tgaaaagaat agaattgagg gaaagaagaa atttaagttc aaagagaaat actaaggaaa
     3661 tacaaagtgg ctcatcatca tctgatgctg aggaaagttc tgaagataat aaaaagaaga
     3721 agcaaagaac ttcatctaaa aagaaggcag tcattgtcaa ggagaaaaag agaaactccc
     3781 taagaacaag cactaaaagg aagcaagctg acattacatc ctcatcttct tctgatatag
     3841 aagatgatga tcagaattct ataggtgagg gaagcagcga tgaacagaaa attaagcctg
     3901 tgactgaaaa tttagtgctg tcttcacata ctggattttg ccaatcttca ggagatgaag
     3961 ccttatctaa atcagtgcct gtcacagtgg atgatgatga tgacgacaat gatcctgaga
     4021 atagaattgc caagaagatg cttttagaag aaattaaagc caatctttcc tctgatgagg
     4081 atggatcttc agatgatgag ccagaagaag ggaaaaaaag aactggaaaa caaaatgaag
     4141 aaaacccagg agatgaggaa gcaaaaaatc aagtcaattc tgaatcagat tcagattctg
     4201 aagaatctaa gaagccaaga tacagacata ggcttttgcg gcacaaattg actgtgagtg
     4261 acggagaatc tggagaagaa aaaaagacaa agcctaaaga gcataaagaa gtcaaaggca
     4321 gaaacagaag aaaggtgagc agtgaagatt cagaagattc tgattttcag gaatcaggag
     4381 ttagtgaaga agttagtgaa tccgaagatg aacagcggcc cagaacaagg tctgcaaaga
     4441 aagcagagtt ggaagaaaat cagcggagct ataaacagaa aaagaaaagg cgacgtatta
     4501 aggttcaaga agattcatcc agtgaaaaca agagtaattc tgaggaagaa gaggaggaaa
     4561 aagaagagga ggaggaagag gaggaggagg aggaagagga ggaggaagat gaaaatgatg
     4621 attccaagtc tcctggaaaa ggcagaaaga aaattcggaa gattcttaaa gatgataaac
     4681 tgagaacaga aacacaaaat gctcttaagg aagaggaaga gagacgaaaa cgtattgctg
     4741 agagggagcg tgagcgagaa aaattgagag aggtgataga aattgaagat gcttcaccca
     4801 ccaagtgtcc aataacaacc aagttggttt tagatgaaga tgaagaaacc aaagaacctt
     4861 tagtgcaggt tcatagaaat atggttatca aattgaaacc ccatcaagta gatggtgttc
     4921 agtttatgtg ggattgctgc tgtgagtctg tgaaaaaaac aaagaaatct ccaggttcag
     4981 gatgcattct tgcccactgt atgggccttg gtaagacttt acaggtggta agttttcttc
     5041 atacagttct tttgtgtgac aaactggatt tcagcacggc gttagtggtt tgtcctctta
     5101 atactgcttt gaattggatg aatgaatttg agaagtggca agagggatta aaagatgatg
     5161 agaagcttga ggtttctgaa ttagcaactg tgaaacgtcc tcaggagaga agctacatgc
     5221 tgcagaggtg gcaagaagat ggtggtgtta tgatcatagg ctatgagatg tatagaaatc
     5281 ttgctcaagg aaggaatgtg aagagtcgga aacttaaaga aatatttaac aaagctttgg
     5341 ttgatccagg ccctgatttt gttgtttgtg atgaaggcca tattctaaaa aatgaagcat
     5401 ctgctgtttc taaagctatg aattctatac gatcaaggag gaggattatt ttaacaggaa
     5461 caccacttca aaataaccta attgagtatc attgtatggt taattttatc aaggaaaatt
     5521 tacttggatc cattaaggag ttcaggaata gatttataaa tccaattcaa aatggtcagt
     5581 gtgcagattc taccatggta gatgtcagag tgatgaaaaa acgtgctcac attctctatg
     5641 agatgttagc tggatgtgtt cagaggaaag attatacagc attaacaaaa ttcttgcctc
     5701 caaaacacga atatgtgtta gctgtgagaa tgacttctat tcagtgcaag ctctatcagt
     5761 actacttaga tcacttaaca ggtgtgggca ataatagtga aggtggaaga ggaaaggcag
     5821 gtgcaaagct tttccaagat tttcagatgt taagtagaat atggactcat ccttggtgtt
     5881 tgcagctaga ctacattagc aaagaaaata agggttattt tgatgaagac agtatggatg
     5941 aatttatagc ctcagattct gatgaaacct ccatgagttt aagctccgat gattatacaa
     6001 aaaagaagaa aaaagggaaa aaggggaaaa aagatagtag ctcaagtgga agtggcagtg
     6061 acaatgatgt tgaagtgatt aaggtctgga attcaagatc tcggggaggt ggtgaaggaa
     6121 atgtggatga aacaggaaac aatccttctg tttctttaaa actggaagaa agtaaagcta
     6181 cttcttcttc taatccaagc agcccagctc cagactggta caaagatttt gttacagatg
     6241 ctgatgctga ggttttagag cattctggga aaatggtact tctctttgaa attcttcgaa
     6301 tggcagagga aattggggat aaagtccttg ttttcagcca gtccctcata tctctggact
     6361 tgattgaaga ttttcttgaa ttagctagta gggagaagac agaagataaa gataaacccc
     6421 ttatttataa aggtgagggg aagtggcttc gaaacattga ctattaccgt ttagatggtt
     6481 ccactactgc acagtcaagg aagaagtggg ctgaagaatt taatgatgaa actaatgtga
     6541 gaggacgatt atttatcatt tctactaaag caggatctct aggaattaat ctggtagctg
     6601 ctaatcgagt aattatattc gacgcttctt ggaatccatc ttatgacatc cagagtatat
     6661 tcagagttta tcgctttgga caaactaagc ctgtttatgt atataggttc ttagctcagg
     6721 gaaccatgga agataagatt tatgatcggc aagtaactaa gcagtcactg tcttttcgag
     6781 ttgttgatca gcagcaggtg gagcgtcatt ttactatgaa tgagcttact gaactttata
     6841 cttttgagcc agacttatta gatgacccta attcagaaaa gaagaagaag agggatactc
     6901 ccatgctgcc aaaggatacc atacttgcag agctccttca gatacataaa gaacacattg
     6961 taggatacca tgaacatgat tctcttttgg accacaaaga agaagaagag ttgactgaag
     7021 aagaaagaaa agcagcttgg gctgagtatg aagcagagaa gaagggactg accatgcgtt
     7081 tcaacatacc aactgggacc aatttacccc ctgtcagttt caactctcaa actccttata
     7141 ttcctttcaa tttgggagcc ctgtcagcaa tgagtaatca acagctggag gacctcatta
     7201 atcaaggaag agaaaaagtt gtagaagcaa caaacagtgt gacagcagtg aggattcaac
     7261 ctcttgagga tataatttca gctgtatgga aggagaacat gaatctctca gaggcccaag
     7321 tacaggcgtt agcattaagt agacaagcca gccaggagct tgatgttaaa cgaagagaag
     7381 caatctacaa tgatgtattg acaaaacaac agatgttaat cagctgtgtt cagcgaatac
     7441 ttatgaacag aaggctccag cagcagtaca atcagcagca acagcaacaa atgacttatc
     7501 aacaagcaac actgggtcac ctcatgatgc caaagccccc aaatttgatc atgaatcctt
     7561 ctaactacca gcagattgat atgagaggaa tgtatcagcc agtggctggt ggtatgcagc
     7621 caccaccatt acagcgtgca ccacccccaa tgagaagcaa aaatccagga ccttcccaag
     7681 ggaaatcaat gtgattttgc actaaaagct taatggattg ttaaaatcat agaaagatct
     7741 tttatttttt taggaatcaa tgacttaaca gaactcaact gtataaatag tttggtcccc
     7801 ttaaatgcca atcttccata ttagttttac tttttttttt tttaaatagg gcataccatt
     7861 tcttcctgac atttgtcagt gatgttgcct agaatcttct tacacacgct gagtacagaa
     7921 gatatttcaa attgttttca gtgaaaacaa gtccttccat aatagtaaca actccacaga
     7981 tttcctctct aaatttttat gcctgctttt agcaaccata aaattgtcat aaaattaata
     8041 aatttaggaa agaataaaga tttatatatt cattctttac atataaaaac acacagctga
     8101 gttcttagag ttgattcctc aagttatgaa atacttttgt acttaatcca tttcttgatt
     8161 aaagtgattg aaatggtttt aatgttcttt tgactgaagt ctgaaactgg gctcctgctt
     8221 tattgtctct gtgactgaaa gttagaaact gagggttatc tttgacacag aattgtgtgc
     8281 aatattctta aatactactg ctctaaaagt tggagaagtc ttgcagttat cttagcattg
     8341 tataaacagc cttaagtata gcctaagaag agaattcctt tttcttcttt agtccttctg
     8401 ccatttttta ttttcagtta tatgtgctga aataattact ggtaaaattt cagggttgtg
     8461 gattatcttc cacacatgaa ttttctctct cctggcacga atataaagca catctcttaa
     8521 ctgcatggtg ccagtgctaa tgcttcatcc tgttgctggc agtgggatgt ggacttagaa
     8581 aatcaagttc tagcatttta gtaggttaac actgaagttg tggttgttag gttcacaccc
     8641 tgttttataa acaacatcaa aatggcagaa ccattgctga ctttaggttc acatgaggaa
     8701 tgtactttta acaattccca gtactatcag tattgtgaaa taattcctct gaaagataag
     8761 aatcactggc ttctatgcgc ttcttttctc tcatcatcat gttcttttac cccagtttcc
     8821 ttacattttt ttaaattgtt tcagagtttg tttttttttt agtttagatt gtgaggcaat
     8881 tattaaatca aaattaattc atccaatacc cctttactag aagttttact agaaaatgta
     8941 ttacatttta ttttttctta atccagttct gcaaaaatga cctataaatt tattcatgta
     9001 caattttggt tacttgaatt gttaaagaaa acattgtttt tgactatggg agtcaactca
     9061 acatggcaga accatttttg agatgatgat acaacaggta gtgaaacagc ttaagaattc
     9121 caaaaaaaaa aaaaaaaaaa aaaaaaagaa aactgggttt gggctttgct ttaggtatca
     9181 ctggattaga atgagtttaa cattagctaa aactgctttg agttgtttgg atgattaaga
     9241 gattgccatt tttatcttgg aagaactagt ggtaaaacat ccaagagcac taggattgtg
     9301 atacagaatt tgtgaggttt ggtggatcca cgcccctctc ccccactttc ccatgatgaa
     9361 atatcactaa taaatcctgt atatttagat attatgctag ccatgtaatc agatttattt
     9421 aattgggtgg ggcaggtgtg tatttacttt agaaaaaatg aaaaagacaa gatttatgag
     9481 aaatatttga aggcagtaca ctctggccaa ctgttaccag ttggtatttc tacaagttca
     9541 gaatatttta aacctgattt actagacctg ggaattttca acatggtcta attatttact
     9601 caaagacata gatgtgaaaa ttttaggcaa ccttctaaat ctttttcacc atggatgaaa
     9661 ctataactta aagaataata cttagaaggg ttaattggaa atcagagttt gaaataaaac
     9721 ttggaccact ttgtatacac tcttctcact tgacatttta gctatataat atgtactttg
     9781 agtataacat caagctttaa caaatattta aagacaaaaa aatcacgtca gtaaaatact
     9841 aaaaggctca tttttatatt tgttttagat gttttaaata gttgcaatgg attaaaaatg
     9901 atgatttaaa atgttgcttg taatacagtt ttgcctgcta aattctccac attttgtaac
     9961 ctgttttatt tctttgggtg taaagcgttt ttgcttagta ttgtgatatt gtatatgttt
    10021 tgtcccagtt gtatagtaat gtttcagtcc atcatccagc tttggctgct gaaatcatac
    10081 agctgtgaag acttgccttt gtttctgtta gactgctttt cagttctgta ttgagtatct
    10141 taagtactgt agaaaagatg tcacttcttc ctttaaggct gttttgtaat atatataagg
    10201 actggaattg tgtttttaaa gaaaagcatt caagtatgac aatatactat ctgtgttttc
    10261 accattcaaa gtgctgttta gtagttgaaa cttaaactat ttaatgtcat ttaataaagt
    10321 gaccaaaatg tgttgtgctc tttattgtat tttcacagct ttgaaaatct gtgcacatac
    10381 tgtttcatag aaaatgtata gcttttgttg tcctatataa tggtggttct tttgcacatt
    10441 tagttattta atattgagag gtcacgaagt ttggttattg aatctgttat atactaaatt
    10501 ctgtaaaggg agatctctca tctcaaaaag aatttacata ccaggaagtc catgtgtgtt
    10561 tgtgttagtt ttggatgtct ttgtgtaatc cagccccatt tcctgtttcc caacagctgt
    10621 aacactcatt ttaagtcaag cagggctacc aacccacact tgatagaaaa gctgcttacc
    10681 attcagaagc ttccttatta cctggcctcc aaatgagctg aatattttgt agccttccct
    10741 tagctatgtt cattttccct ccattatcat aaaatcagat cgatatttat gtgccccaaa
    10801 caaaacttta agagcagtta cattctgtcc cagtagccct tgtttccttt gagagtagca
    10861 tgttgtgagg ctatagagac ttattctacc agtaaaacag gtcaatcctt ttacatgttt
    10921 attatactaa aaattatgtt cagggtattt actactttat ttcaccagac tcagtctcaa
    10981 gtgacttggc tatctccaaa tcagatctac ccttagagaa taaacatttt tctaccgtta
    11041 ttttttttca agtctataat ctgagccagt cccaaaggag tgatcaagtt tcagaaatgc
    11101 tttcatcttc acaacatttt atatatacta ttatatgggg tgaataaagt tttaaatccg
    11161 aaata
//
LOCUS       NM_000490                619 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens arginine vasopressin (AVP), mRNA.
ACCESSION   NM_000490
VERSION     NM_000490.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 619)
  AUTHORS   Al-Atta A, Spray L, Mohammed A, Shmeleva E and Spyridopoulos I.
  TITLE     Arginine Vasopressin Plays a Role in Microvascular Dysfunction After
            ST-Elevation Myocardial Infarction
  JOURNAL   J Am Heart Assoc 12 (18), e030473 (2023)
   PUBMED   37681545
  REMARK    GeneRIF: Arginine Vasopressin Plays a Role in Microvascular
            Dysfunction After ST-Elevation Myocardial Infarction.
REFERENCE   2  (bases 1 to 619)
  AUTHORS   Yamamoto K, Nakano Y, Iwata N, Soejima Y, Suyama A, Hasegawa T and
            Otsuka F.
  TITLE     Stimulatory effects of vasopressin on progesterone production and
            BMP signaling by ovarian granulosa cells
  JOURNAL   Biochem Biophys Res Commun 667, 132-137 (2023)
   PUBMED   37224632
  REMARK    GeneRIF: Stimulatory effects of vasopressin on progesterone
            production and BMP signaling by ovarian granulosa cells.
REFERENCE   3  (bases 1 to 619)
  AUTHORS   Yalta K, Yetkin E and Yalta T.
  TITLE     Serum Copeptin in Cardiooncology Practice: Review of
            Pathophysiological and Clinical Implications
  JOURNAL   Balkan Med J 40 (2), 82-92 (2023)
   PUBMED   36883738
  REMARK    GeneRIF: Serum Copeptin in Cardiooncology Practice: Review of
            Pathophysiological and Clinical Implications.
REFERENCE   4  (bases 1 to 619)
  AUTHORS   Mondragon-Ceballos R, Barrios-De Tomasi J and Hernandez-Lopez LE.
  TITLE     [Oxytocin and vasopressin: sexual differences and clinical
            implications]
  JOURNAL   Rev Med Inst Mex Seguro Soc 61 (2), 196-203 (2023)
   PUBMED   37200960
  REMARK    GeneRIF: [Oxytocin and vasopressin: sexual differences and clinical
            implications]. Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 619)
  AUTHORS   Wronikowska-Denysiuk O, Mrozek W and Budzynska B.
  TITLE     The Role of Oxytocin and Vasopressin in Drug-Induced
            Reward-Implications for Social and Non-Social Factors
  JOURNAL   Biomolecules 13 (3), 405 (2023)
   PUBMED   36979340
  REMARK    GeneRIF: The Role of Oxytocin and Vasopressin in Drug-Induced
            Reward-Implications for Social and Non-Social Factors. Review
            article Publication Status: Online-Only
REFERENCE   6  (bases 1 to 619)
  AUTHORS   Bahnsen U, Oosting P, Swaab DF, Nahke P, Richter D and Schmale H.
  TITLE     A missense mutation in the vasopressin-neurophysin precursor gene
            cosegregates with human autosomal dominant neurohypophyseal diabetes
            insipidus
  JOURNAL   EMBO J 11 (1), 19-23 (1992)
   PUBMED   1740104
REFERENCE   7  (bases 1 to 619)
  AUTHORS   Ito M, Mori Y, Oiso Y and Saito H.
  TITLE     A single base substitution in the coding region for neurophysin II
            associated with familial central diabetes insipidus
  JOURNAL   J Clin Invest 87 (2), 725-728 (1991)
   PUBMED   1840604
REFERENCE   8  (bases 1 to 619)
  AUTHORS   Summar ML, Phillips JA 3rd, Battey J, Castiglione CM, Kidd KK,
            Maness KJ, Weiffenbach B and Gravius TC.
  TITLE     Linkage relationships of human arginine vasopressin-neurophysin-II
            and oxytocin-neurophysin-I to prodynorphin and other loci on
            chromosome 20
  JOURNAL   Mol Endocrinol 4 (6), 947-950 (1990)
   PUBMED   1978246
REFERENCE   9  (bases 1 to 619)
  AUTHORS   Repaske DR, Phillips JA 3rd, Kirby LT, Tze WJ, D'Ercole AJ and
            Battey J.
  TITLE     Molecular analysis of autosomal dominant neurohypophyseal diabetes
            insipidus
  JOURNAL   J Clin Endocrinol Metab 70 (3), 752-757 (1990)
   PUBMED   1968469
REFERENCE   10  (bases 1 to 619)
  AUTHORS   Ganz MB, Boyarsky G, Sterzel RB and Boron WF.
  TITLE     Arginine vasopressin enhances pHi regulation in the presence of
            HCO3- by stimulating three acid-base transport systems
  JOURNAL   Nature 337 (6208), 648-651 (1989)
   PUBMED   2521920
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC018062.1, BG715518.1 [ECO:0000332]
            RNAseq introns :: partial sample support SAMEA1970526, SAMEA2142680
            [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380293.3/ ENSP00000369647.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG715518.1 and BC126196.1.
            On May 17, 2019 this sequence version replaced NM_000490.4.
            Summary: This gene encodes a member of the vasopressin/oxytocin
            family and preproprotein that is proteolytically processed to
            generate multiple protein products. These products include the
            neuropeptide hormone arginine vasopressin, and two other peptides,
            neurophysin 2 and copeptin. Arginine vasopressin is a posterior
            pituitary hormone that is synthesized in the supraoptic nucleus and
            paraventricular nucleus of the hypothalamus. Along with its carrier
            protein, neurophysin 2, it is packaged into neurosecretory vesicles
            and transported axonally to the nerve endings in the
            neurohypophysis where it is either stored or secreted into the
            bloodstream. The precursor is thought to be activated while it is
            being transported along the axon to the posterior pituitary.
            Arginine vasopressin acts as a growth factor by enhancing pH
            regulation through acid-base transport systems. It has a direct
            antidiuretic action on the kidney, and also causes vasoconstriction
            of the peripheral vessels. This hormone can contract smooth muscle
            during parturition and lactation. It is also involved in cognition,
            tolerance, adaptation and complex sexual and maternal behaviour, as
            well as in the regulation of water excretion and cardiovascular
            functions. Mutations in this gene cause autosomal dominant
            neurohypophyseal diabetes insipidus (ADNDI). This gene is present
            in a gene cluster with the related gene oxytocin on chromosome 20.
            [provided by RefSeq, Nov 2015].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..619
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..619
                     /gene="AVP"
                     /gene_synonym="ADH; ARVP; AVP-NPII; AVRP; VP"
                     /note="arginine vasopressin"
                     /db_xref="GeneID:551"
                     /db_xref="HGNC:HGNC:894"
                     /db_xref="MIM:192340"
     CDS             51..545
                     /gene="AVP"
                     /gene_synonym="ADH; ARVP; AVP-NPII; AVRP; VP"
                     /note="vasopressin-neurophysin II-copeptin;
                     neurohypophyseal; antidiuretic hormone;
                     vasopressin-neurophysin 2-copeptin; prepro-AVP-NP II;
                     prepro-arginine-vasopressin-neurophysin II"
                     /codon_start=1
                     /product="vasopressin-neurophysin 2-copeptin preproprotein"
                     /protein_id="NP_000481.2"
                     /db_xref="CCDS:CCDS13045.1"
                     /db_xref="GeneID:551"
                     /db_xref="HGNC:HGNC:894"
                     /db_xref="MIM:192340"
                     /translation="MPDTMLPACFLGLLAFSSACYFQNCPRGGKRAMSDLELRQCLPCG
                     PGGKGRCFGPSICCADELGCFVGTAEALRCQEENYLPSPCQSGQKACGSGGRCAAFGVC
                     CNDESCVTEPECREGFHRRARASDRSNATQLDGPAGALLLRLVQLAGAPEPFEPAQPDA
                     Y"
     sig_peptide     51..107
                     /gene="AVP"
                     /gene_synonym="ADH; ARVP; AVP-NPII; AVRP; VP"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     108..134
                     /gene="AVP"
                     /gene_synonym="ADH; ARVP; AVP-NPII; AVRP; VP"
                     /product="Arg-vasopressin.
                     /evidence=ECO:0000269|PubMed:13591312. /id=PRO_0000020515"
                     /note="propagated from UniProtKB/Swiss-Prot (P01185.2)"
     misc_feature    132..134
                     /gene="AVP"
                     /gene_synonym="ADH; ARVP; AVP-NPII; AVRP; VP"
                     /note="Glycine amide.
                     /evidence=ECO:0000269|PubMed:13591312; propagated from
                     UniProtKB/Swiss-Prot (P01185.2); amidation site"
     misc_feature    132..134
                     /gene="AVP"
                     /gene_synonym="ADH; ARVP; AVP-NPII; AVRP; VP"
                     /note="Important for agonist activity on V1aR/AVPR1A.
                     /evidence=ECO:0000269|PubMed:18174156; propagated from
                     UniProtKB/Swiss-Prot (P01185.2); other site"
     mat_peptide     144..422
                     /gene="AVP"
                     /gene_synonym="ADH; ARVP; AVP-NPII; AVRP; VP"
                     /product="Neurophysin 2.
                     /evidence=ECO:0000269|PubMed:6574452. /id=PRO_0000020516"
                     /note="propagated from UniProtKB/Swiss-Prot (P01185.2)"
     mat_peptide     426..542
                     /gene="AVP"
                     /gene_synonym="ADH; ARVP; AVP-NPII; AVRP; VP"
                     /product="Copeptin. /evidence=ECO:0000269|PubMed:7271787.
                     /id=PRO_0000020517"
                     /note="propagated from UniProtKB/Swiss-Prot (P01185.2)"
     misc_feature    441..443
                     /gene="AVP"
                     /gene_synonym="ADH; ARVP; AVP-NPII; AVRP; VP"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P01185.2); glycosylation site"
     regulatory      600..605
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AVP"
                     /gene_synonym="ADH; ARVP; AVP-NPII; AVRP; VP"
                     /note="hexamer: AATAAA"
     polyA_site      619
                     /gene="AVP"
                     /gene_synonym="ADH; ARVP; AVP-NPII; AVRP; VP"
                     /note="major polyA site"
ORIGIN
        1 acagagccac caagcagtgc tgcatacggg gtccacctgt gtgcaccagg atgcctgaca
       61 ccatgctgcc cgcctgcttc ctcggcctac tggccttctc ctccgcgtgc tacttccaga
      121 actgcccgag gggcggcaag agggccatgt ccgacctgga gctgagacag tgcctcccct
      181 gcggccccgg gggcaaaggc cgctgcttcg ggcccagcat ctgctgcgcg gacgagctgg
      241 gctgcttcgt gggcacggct gaggcgctgc gctgccagga ggagaactac ctgccgtcgc
      301 cctgccagtc cggccagaag gcgtgcggga gcgggggccg ctgcgccgcc ttcggcgttt
      361 gctgcaacga cgagagctgc gtgaccgagc ccgagtgccg cgagggcttt caccgccgcg
      421 cccgcgccag cgaccggagc aacgccacgc agctggacgg gccggccggg gccttgctgc
      481 tgcggctggt gcagctggcc ggggcgcccg agcccttcga gcccgcccag cccgacgcct
      541 actgagcccc gcgctcgccc caccggcgcg ctcttcgcgc ccgcccctgc agcacggaca
      601 ataaacctcc gccaatgca
//
LOCUS       NM_000492               6070 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens CF transmembrane conductance regulator (CFTR), mRNA.
ACCESSION   NM_000492
VERSION     NM_000492.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6070)
  AUTHORS   Xu B, Zhang J, Chen W and Cai W.
  TITLE     Exploring the methylation status of CFTR and PKIA genes as potential
            biomarkers for lung adenocarcinoma
  JOURNAL   Orphanet J Rare Dis 18 (1), 246 (2023)
   PUBMED   37644544
  REMARK    GeneRIF: Exploring the methylation status of CFTR and PKIA genes as
            potential biomarkers for lung adenocarcinoma. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 6070)
  AUTHORS   Kunzelmann K, Ousingsawat J, Kraus A, Park JH, Marquardt T,
            Schreiber R and Buchholz B.
  TITLE     Pathogenic Relationships in Cystic Fibrosis and Renal Diseases:
            CFTR, SLC26A9 and Anoctamins
  JOURNAL   Int J Mol Sci 24 (17), 13278 (2023)
   PUBMED   37686084
  REMARK    GeneRIF: Pathogenic Relationships in Cystic Fibrosis and Renal
            Diseases: CFTR, SLC26A9 and Anoctamins. Review article Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 6070)
  AUTHORS   Iazzi M, Sadeghi S and Gupta GD.
  TITLE     A Proteomic Survey of the Cystic Fibrosis Transmembrane Conductance
            Regulator Surfaceome
  JOURNAL   Int J Mol Sci 24 (14), 11457 (2023)
   PUBMED   37511222
  REMARK    GeneRIF: A Proteomic Survey of the Cystic Fibrosis Transmembrane
            Conductance Regulator Surfaceome. Review article Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 6070)
  AUTHORS   Chernykh V, Sorokina T, Sedova A, Shtaut M, Solovova O, Marnat E,
            Adyan T, Beskorovaynaya T, Stepanova A, Shchagina O and Polyakov A.
  TITLE     L138ins Variant of the CFTR Gene in Russian Infertile Men
  JOURNAL   Genes (Basel) 14 (7), 1407 (2023)
   PUBMED   37510311
  REMARK    GeneRIF: L138ins Variant of the CFTR Gene in Russian Infertile Men.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6070)
  AUTHORS   Shelton,C., LaRusch,J. and Whitcomb,D.C.
  TITLE     Pancreatitis Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24624459
REFERENCE   6  (bases 1 to 6070)
  AUTHORS   Savant,A., Lyman,B., Bojanowski,C. and Upadia,J.
  TITLE     Cystic Fibrosis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301428
REFERENCE   7  (bases 1 to 6070)
  AUTHORS   Lissens W, Bonduelle M, Malfroot A, Dab I and Liebaers I.
  TITLE     A serine to proline substitution (S1255P) in the second nucleotide
            binding fold of the cystic fibrosis gene
  JOURNAL   Hum Mol Genet 1 (6), 441-442 (1992)
   PUBMED   1284530
REFERENCE   8  (bases 1 to 6070)
  AUTHORS   Shackleton S, Beards F and Harris A.
  TITLE     Detection of novel and rare mutations in exon 4 of the cystic
            fibrosis gene by SSCP
  JOURNAL   Hum Mol Genet 1 (6), 439-440 (1992)
   PUBMED   1284529
REFERENCE   9  (bases 1 to 6070)
  AUTHORS   Cheadle JP, Meredith AL and al-Jader LN.
  TITLE     A new missense mutation (R1283M) in exon 20 of the cystic fibrosis
            transmembrane conductance regulator gene
  JOURNAL   Hum Mol Genet 1 (2), 123-125 (1992)
   PUBMED   1284468
REFERENCE   10  (bases 1 to 6070)
  AUTHORS   Jones CT, McIntosh I, Keston M, Ferguson A and Brock DJ.
  TITLE     Three novel mutations in the cystic fibrosis gene detected by
            chemical cleavage: analysis of variant splicing and a nonsense
            mutation
  JOURNAL   Hum Mol Genet 1 (1), 11-17 (1992)
   PUBMED   1284466
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M28668.1, SRR18074969.707190.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000003084.11/ ENSP00000003084.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M28668.1, AC000111.1 and
            AC000061.1.
            On Aug 31, 2019 this sequence version replaced NM_000492.3.
            Summary: This gene encodes a member of the ATP-binding cassette
            (ABC) transporter superfamily. The encoded protein functions as a
            chloride channel, making it unique among members of this protein
            family, and controls ion and water secretion and absorption in
            epithelial tissues. Channel activation is mediated by cycles of
            regulatory domain phosphorylation, ATP-binding by the
            nucleotide-binding domains, and ATP hydrolysis. Mutations in this
            gene cause cystic fibrosis, the most common lethal genetic disorder
            in populations of Northern European descent. The most frequently
            occurring mutation in cystic fibrosis, DeltaF508, results in
            impaired folding and trafficking of the encoded protein. Multiple
            pseudogenes have been identified in the human genome. [provided by
            RefSeq, Aug 2017].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6070
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.2"
     gene            1..6070
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="CF transmembrane conductance regulator"
                     /db_xref="GeneID:1080"
                     /db_xref="HGNC:HGNC:1884"
                     /db_xref="MIM:602421"
     misc_feature    5..7
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="upstream in-frame stop codon"
     CDS             71..4513
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /EC_number="5.6.1.6"
                     /note="cAMP-dependent chloride channel; channel
                     conductance-controlling ATPase; cystic fibrosis
                     transmembrane conductance regulator (ATP-binding cassette
                     sub-family C, member 7); cystic fibrosis transmembrane
                     conductance regulating"
                     /codon_start=1
                     /product="cystic fibrosis transmembrane conductance
                     regulator"
                     /protein_id="NP_000483.3"
                     /db_xref="CCDS:CCDS5773.1"
                     /db_xref="GeneID:1080"
                     /db_xref="HGNC:HGNC:1884"
                     /db_xref="MIM:602421"
                     /translation="MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDS
                     ADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGR
                     IIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKK
                     TLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQAS
                     AFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAM
                     EKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTI
                     SFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTA
                     FWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAG
                     STGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRY
                     RSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFG
                     YLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQN
                     LQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFG
                     EKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRIS
                     VISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRL
                     SQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFL
                     AEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMG
                     FFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPL
                     TIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGR
                     SPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIF
                     VIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKF
                     IDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNA
                     ILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRK
                     AFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGG
                     CVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEH
                     RIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISPSDRVKLFPHRNSSKCKSK
                     PQIAALKEETEEEVQDTRL"
     misc_feature    302..364
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13569.3);
                     transmembrane region"
     misc_feature    437..508
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13569.3);
                     transmembrane region"
     misc_feature    656..718
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13569.3);
                     transmembrane region"
     misc_feature    737..799
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13569.3);
                     transmembrane region"
     misc_feature    965..1027
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13569.3);
                     transmembrane region"
     misc_feature    1088..1144
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13569.3);
                     transmembrane region"
     misc_feature    1715..1717
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P13569.3); phosphorylation site"
     misc_feature    2030..2563
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13569.3);
                     Region: Disordered R region.
                     /evidence=ECO:0000269|PubMed:10792060"
     misc_feature    2048..2050
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:1377674,
                     ECO:0000269|PubMed:22119790, ECO:0000269|PubMed:25330774,
                     ECO:0000269|PubMed:9385646; propagated from
                     UniProtKB/Swiss-Prot (P13569.3); phosphorylation site"
     misc_feature    2078..2080
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:25330774; propagated from
                     UniProtKB/Swiss-Prot (P13569.3); phosphorylation site"
     misc_feature    2126..2128
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000269|PubMed:1377674,
                     ECO:0000269|PubMed:22119790; propagated from
                     UniProtKB/Swiss-Prot (P13569.3); phosphorylation site"
     misc_feature    2168..2170
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:1377674,
                     ECO:0000269|PubMed:22119790, ECO:0000269|PubMed:25330774,
                     ECO:0000269|PubMed:9385646; propagated from
                     UniProtKB/Swiss-Prot (P13569.3); phosphorylation site"
     misc_feature    2204..2206
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:22119790,
                     ECO:0000269|PubMed:25330774, ECO:0000269|PubMed:9385646;
                     propagated from UniProtKB/Swiss-Prot (P13569.3);
                     phosphorylation site"
     misc_feature    2219..2221
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:22119790; propagated from
                     UniProtKB/Swiss-Prot (P13569.3); phosphorylation site"
     misc_feature    2279..2281
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:1377674,
                     ECO:0000269|PubMed:22119790, ECO:0000269|PubMed:25330774,
                     ECO:0000269|PubMed:9385646; propagated from
                     UniProtKB/Swiss-Prot (P13569.3); phosphorylation site"
     misc_feature    2327..2329
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:25330774,
                     ECO:0000269|PubMed:9385646; propagated from
                     UniProtKB/Swiss-Prot (P13569.3); phosphorylation site"
     misc_feature    2372..2374
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:1377674,
                     ECO:0000269|PubMed:25330774, ECO:0000269|PubMed:9385646;
                     propagated from UniProtKB/Swiss-Prot (P13569.3);
                     phosphorylation site"
     misc_feature    2438..2440
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000269|PubMed:1377674; propagated from
                     UniProtKB/Swiss-Prot (P13569.3); phosphorylation site"
     misc_feature    2453..2455
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:1377674,
                     ECO:0000269|PubMed:22119790, ECO:0000269|PubMed:25330774,
                     ECO:0000269|PubMed:9385646; propagated from
                     UniProtKB/Swiss-Prot (P13569.3); phosphorylation site"
     misc_feature    2507..2509
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:1377674,
                     ECO:0000269|PubMed:25330774, ECO:0000269|PubMed:9385646;
                     propagated from UniProtKB/Swiss-Prot (P13569.3);
                     phosphorylation site"
     misc_feature    2645..2707
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13569.3);
                     transmembrane region"
     misc_feature    2750..2752
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:7518437,
                     ECO:0000305|PubMed:20008117; propagated from
                     UniProtKB/Swiss-Prot (P13569.3); glycosylation site"
     misc_feature    2768..2770
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:7518437,
                     ECO:0000305|PubMed:20008117; propagated from
                     UniProtKB/Swiss-Prot (P13569.3); glycosylation site"
     misc_feature    2825..2887
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13569.3);
                     transmembrane region"
     misc_feature    3041..3103
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13569.3);
                     transmembrane region"
     misc_feature    3110..3172
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13569.3);
                     transmembrane region"
     misc_feature    3356..3418
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13569.3);
                     transmembrane region"
     misc_feature    3461..3523
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13569.3);
                     transmembrane region"
     misc_feature    4226..4510
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13569.3);
                     Region: Interaction with GORASP2.
                     /evidence=ECO:0000269|PubMed:21884936"
     misc_feature    4400..4402
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:22119790; propagated from
                     UniProtKB/Swiss-Prot (P13569.3); phosphorylation site"
     misc_feature    4424..4510
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13569.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4436..4438
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:22119790; propagated from
                     UniProtKB/Swiss-Prot (P13569.3); phosphorylation site"
     misc_feature    4502..4510
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P13569.3);
                     Region: PDZ-binding. /evidence=ECO:0000269|PubMed:11707463,
                     ECO:0000269|PubMed:16331976"
     regulatory      6045..6050
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="hexamer: AATAAA"
     polyA_site      6070
                     /gene="CFTR"
                     /gene_synonym="ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7;
                     TNR-CFTR"
                     /note="major polyA site"
ORIGIN
        1 gtagtaggtc tttggcatta ggagcttgag cccagacggc cctagcaggg accccagcgc
       61 ccgagagacc atgcagaggt cgcctctgga aaaggccagc gttgtctcca aacttttttt
      121 cagctggacc agaccaattt tgaggaaagg atacagacag cgcctggaat tgtcagacat
      181 ataccaaatc ccttctgttg attctgctga caatctatct gaaaaattgg aaagagaatg
      241 ggatagagag ctggcttcaa agaaaaatcc taaactcatt aatgcccttc ggcgatgttt
      301 tttctggaga tttatgttct atggaatctt tttatattta ggggaagtca ccaaagcagt
      361 acagcctctc ttactgggaa gaatcatagc ttcctatgac ccggataaca aggaggaacg
      421 ctctatcgcg atttatctag gcataggctt atgccttctc tttattgtga ggacactgct
      481 cctacaccca gccatttttg gccttcatca cattggaatg cagatgagaa tagctatgtt
      541 tagtttgatt tataagaaga ctttaaagct gtcaagccgt gttctagata aaataagtat
      601 tggacaactt gttagtctcc tttccaacaa cctgaacaaa tttgatgaag gacttgcatt
      661 ggcacatttc gtgtggatcg ctcctttgca agtggcactc ctcatggggc taatctggga
      721 gttgttacag gcgtctgcct tctgtggact tggtttcctg atagtccttg ccctttttca
      781 ggctgggcta gggagaatga tgatgaagta cagagatcag agagctggga agatcagtga
      841 aagacttgtg attacctcag aaatgattga aaatatccaa tctgttaagg catactgctg
      901 ggaagaagca atggaaaaaa tgattgaaaa cttaagacaa acagaactga aactgactcg
      961 gaaggcagcc tatgtgagat acttcaatag ctcagccttc ttcttctcag ggttctttgt
     1021 ggtgttttta tctgtgcttc cctatgcact aatcaaagga atcatcctcc ggaaaatatt
     1081 caccaccatc tcattctgca ttgttctgcg catggcggtc actcggcaat ttccctgggc
     1141 tgtacaaaca tggtatgact ctcttggagc aataaacaaa atacaggatt tcttacaaaa
     1201 gcaagaatat aagacattgg aatataactt aacgactaca gaagtagtga tggagaatgt
     1261 aacagccttc tgggaggagg gatttgggga attatttgag aaagcaaaac aaaacaataa
     1321 caatagaaaa acttctaatg gtgatgacag cctcttcttc agtaatttct cacttcttgg
     1381 tactcctgtc ctgaaagata ttaatttcaa gatagaaaga ggacagttgt tggcggttgc
     1441 tggatccact ggagcaggca agacttcact tctaatggtg attatgggag aactggagcc
     1501 ttcagagggt aaaattaagc acagtggaag aatttcattc tgttctcagt tttcctggat
     1561 tatgcctggc accattaaag aaaatatcat ctttggtgtt tcctatgatg aatatagata
     1621 cagaagcgtc atcaaagcat gccaactaga agaggacatc tccaagtttg cagagaaaga
     1681 caatatagtt cttggagaag gtggaatcac actgagtgga ggtcaacgag caagaatttc
     1741 tttagcaaga gcagtataca aagatgctga tttgtattta ttagactctc cttttggata
     1801 cctagatgtt ttaacagaaa aagaaatatt tgaaagctgt gtctgtaaac tgatggctaa
     1861 caaaactagg attttggtca cttctaaaat ggaacattta aagaaagctg acaaaatatt
     1921 aattttgcat gaaggtagca gctattttta tgggacattt tcagaactcc aaaatctaca
     1981 gccagacttt agctcaaaac tcatgggatg tgattctttc gaccaattta gtgcagaaag
     2041 aagaaattca atcctaactg agaccttaca ccgtttctca ttagaaggag atgctcctgt
     2101 ctcctggaca gaaacaaaaa aacaatcttt taaacagact ggagagtttg gggaaaaaag
     2161 gaagaattct attctcaatc caatcaactc tatacgaaaa ttttccattg tgcaaaagac
     2221 tcccttacaa atgaatggca tcgaagagga ttctgatgag cctttagaga gaaggctgtc
     2281 cttagtacca gattctgagc agggagaggc gatactgcct cgcatcagcg tgatcagcac
     2341 tggccccacg cttcaggcac gaaggaggca gtctgtcctg aacctgatga cacactcagt
     2401 taaccaaggt cagaacattc accgaaagac aacagcatcc acacgaaaag tgtcactggc
     2461 ccctcaggca aacttgactg aactggatat atattcaaga aggttatctc aagaaactgg
     2521 cttggaaata agtgaagaaa ttaacgaaga agacttaaag gagtgctttt ttgatgatat
     2581 ggagagcata ccagcagtga ctacatggaa cacatacctt cgatatatta ctgtccacaa
     2641 gagcttaatt tttgtgctaa tttggtgctt agtaattttt ctggcagagg tggctgcttc
     2701 tttggttgtg ctgtggctcc ttggaaacac tcctcttcaa gacaaaggga atagtactca
     2761 tagtagaaat aacagctatg cagtgattat caccagcacc agttcgtatt atgtgtttta
     2821 catttacgtg ggagtagccg acactttgct tgctatggga ttcttcagag gtctaccact
     2881 ggtgcatact ctaatcacag tgtcgaaaat tttacaccac aaaatgttac attctgttct
     2941 tcaagcacct atgtcaaccc tcaacacgtt gaaagcaggt gggattctta atagattctc
     3001 caaagatata gcaattttgg atgaccttct gcctcttacc atatttgact tcatccagtt
     3061 gttattaatt gtgattggag ctatagcagt tgtcgcagtt ttacaaccct acatctttgt
     3121 tgcaacagtg ccagtgatag tggcttttat tatgttgaga gcatatttcc tccaaacctc
     3181 acagcaactc aaacaactgg aatctgaagg caggagtcca attttcactc atcttgttac
     3241 aagcttaaaa ggactatgga cacttcgtgc cttcggacgg cagccttact ttgaaactct
     3301 gttccacaaa gctctgaatt tacatactgc caactggttc ttgtacctgt caacactgcg
     3361 ctggttccaa atgagaatag aaatgatttt tgtcatcttc ttcattgctg ttaccttcat
     3421 ttccatttta acaacaggag aaggagaagg aagagttggt attatcctga ctttagccat
     3481 gaatatcatg agtacattgc agtgggctgt aaactccagc atagatgtgg atagcttgat
     3541 gcgatctgtg agccgagtct ttaagttcat tgacatgcca acagaaggta aacctaccaa
     3601 gtcaaccaaa ccatacaaga atggccaact ctcgaaagtt atgattattg agaattcaca
     3661 cgtgaagaaa gatgacatct ggccctcagg gggccaaatg actgtcaaag atctcacagc
     3721 aaaatacaca gaaggtggaa atgccatatt agagaacatt tccttctcaa taagtcctgg
     3781 ccagagggtg ggcctcttgg gaagaactgg atcagggaag agtactttgt tatcagcttt
     3841 tttgagacta ctgaacactg aaggagaaat ccagatcgat ggtgtgtctt gggattcaat
     3901 aactttgcaa cagtggagga aagcctttgg agtgatacca cagaaagtat ttattttttc
     3961 tggaacattt agaaaaaact tggatcccta tgaacagtgg agtgatcaag aaatatggaa
     4021 agttgcagat gaggttgggc tcagatctgt gatagaacag tttcctggga agcttgactt
     4081 tgtccttgtg gatgggggct gtgtcctaag ccatggccac aagcagttga tgtgcttggc
     4141 tagatctgtt ctcagtaagg cgaagatctt gctgcttgat gaacccagtg ctcatttgga
     4201 tccagtaaca taccaaataa ttagaagaac tctaaaacaa gcatttgctg attgcacagt
     4261 aattctctgt gaacacagga tagaagcaat gctggaatgc caacaatttt tggtcataga
     4321 agagaacaaa gtgcggcagt acgattccat ccagaaactg ctgaacgaga ggagcctctt
     4381 ccggcaagcc atcagcccct ccgacagggt gaagctcttt ccccaccgga actcaagcaa
     4441 gtgcaagtct aagccccaga ttgctgctct gaaagaggag acagaagaag aggtgcaaga
     4501 tacaaggctt tagagagcag cataaatgtt gacatgggac atttgctcat ggaattggag
     4561 ctcgtgggac agtcacctca tggaattgga gctcgtggaa cagttacctc tgcctcagaa
     4621 aacaaggatg aattaagttt ttttttaaaa aagaaacatt tggtaagggg aattgaggac
     4681 actgatatgg gtcttgataa atggcttcct ggcaatagtc aaattgtgtg aaaggtactt
     4741 caaatccttg aagatttacc acttgtgttt tgcaagccag attttcctga aaacccttgc
     4801 catgtgctag taattggaaa ggcagctcta aatgtcaatc agcctagttg atcagcttat
     4861 tgtctagtga aactcgttaa tttgtagtgt tggagaagaa ctgaaatcat acttcttagg
     4921 gttatgatta agtaatgata actggaaact tcagcggttt atataagctt gtattccttt
     4981 ttctctcctc tccccatgat gtttagaaac acaactatat tgtttgctaa gcattccaac
     5041 tatctcattt ccaagcaagt attagaatac cacaggaacc acaagactgc acatcaaaat
     5101 atgccccatt caacatctag tgagcagtca ggaaagagaa cttccagatc ctggaaatca
     5161 gggttagtat tgtccaggtc taccaaaaat ctcaatattt cagataatca caatacatcc
     5221 cttacctggg aaagggctgt tataatcttt cacaggggac aggatggttc ccttgatgaa
     5281 gaagttgata tgccttttcc caactccaga aagtgacaag ctcacagacc tttgaactag
     5341 agtttagctg gaaaagtatg ttagtgcaaa ttgtcacagg acagcccttc tttccacaga
     5401 agctccaggt agagggtgtg taagtagata ggccatgggc actgtgggta gacacacatg
     5461 aagtccaagc atttagatgt ataggttgat ggtggtatgt tttcaggcta gatgtatgta
     5521 cttcatgctg tctacactaa gagagaatga gagacacact gaagaagcac caatcatgaa
     5581 ttagttttat atgcttctgt tttataattt tgtgaagcaa aattttttct ctaggaaata
     5641 tttattttaa taatgtttca aacatatata acaatgctgt attttaaaag aatgattatg
     5701 aattacattt gtataaaata atttttatat ttgaaatatt gactttttat ggcactagta
     5761 tttctatgaa atattatgtt aaaactggga caggggagaa cctagggtga tattaaccag
     5821 gggccatgaa tcaccttttg gtctggaggg aagccttggg gctgatgcag ttgttgccca
     5881 cagctgtatg attcccagcc agcacagcct cttagatgca gttctgaaga agatggtacc
     5941 accagtctga ctgtttccat caagggtaca ctgccttctc aactccaaac tgactcttaa
     6001 gaagactgca ttatatttat tactgtaaga aaatatcact tgtcaataaa atccatacat
     6061 ttgtgtgaaa
//
LOCUS       NM_000493               3302 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens collagen type X alpha 1 chain (COL10A1), transcript
            variant 1, mRNA.
ACCESSION   NM_000493
VERSION     NM_000493.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3302)
  AUTHORS   Cai S, Sun Z, Yan Y, Li W and Wu Q.
  TITLE     COL10A1 is a potential immunotherapy biomarker associated with
            immune infiltration and deficient mismatch repair in colon cancer
  JOURNAL   Immunotherapy 15 (15), 1293-1308 (2023)
   PUBMED   37585671
  REMARK    GeneRIF: COL10A1 is a potential immunotherapy biomarker associated
            with immune infiltration and deficient mismatch repair in colon
            cancer.
REFERENCE   2  (bases 1 to 3302)
  AUTHORS   Tuysuz B, Kasap B, Saritas M, Alkaya DU, Bozlak S, Kiykim A, Durmaz
            A, Yildirim T, Akpinar E, Apak H and Vural M.
  TITLE     Natural history and genetic spectrum of the Turkish metaphyseal
            dysplasia cohort, including rare types caused by biallelic COL10A1,
            COL2A1, and LBR variants
  JOURNAL   Bone 167, 116614 (2023)
   PUBMED   36400164
  REMARK    GeneRIF: Natural history and genetic spectrum of the Turkish
            metaphyseal dysplasia cohort, including rare types caused by
            biallelic COL10A1, COL2A1, and LBR variants.
REFERENCE   3  (bases 1 to 3302)
  AUTHORS   Liu Q, Zhao H, Guo Y, Zhang K, Shang F and Liu T.
  TITLE     Bioinformatics-Based Analysis: Noncoding RNA-Mediated COL10A1 Is
            Associated with Poor Prognosis and Immune Cell Infiltration in
            Pancreatic Cancer
  JOURNAL   J Healthc Eng 2022, 7904982 (2022)
   PUBMED   36105715
  REMARK    GeneRIF: Bioinformatics-Based Analysis: Noncoding RNA-Mediated
            COL10A1 Is Associated with Poor Prognosis and Immune Cell
            Infiltration in Pancreatic Cancer. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3302)
  AUTHORS   Zhang M, Jin M, Gao Z, Yu W and Zhang W.
  TITLE     High COL10A1 expression potentially contributes to poor outcomes in
            gastric cancer with the help of LEF1 and Wnt2
  JOURNAL   J Clin Lab Anal 36 (9), e24612 (2022)
   PUBMED   35929139
  REMARK    GeneRIF: High COL10A1 expression potentially contributes to poor
            outcomes in gastric cancer with the help of LEF1 and Wnt2.
REFERENCE   5  (bases 1 to 3302)
  AUTHORS   He C, Liu W, Xiong Y, Wang Y, Pan L, Luo L, Tu Y, Song R and Chen W.
  TITLE     VSNL1 Promotes Cell Proliferation, Migration, and Invasion in
            Colorectal Cancer by Binding with COL10A1
  JOURNAL   Ann Clin Lab Sci 52 (1), 60-72 (2022)
   PUBMED   35181619
  REMARK    GeneRIF: VSNL1 Promotes Cell Proliferation, Migration, and Invasion
            in Colorectal Cancer by Binding with COL10A1. Erratum:[Ann Clin Lab
            Sci. 2022 May;52(3):510. PMID: 35777801]
REFERENCE   6  (bases 1 to 3302)
  AUTHORS   Richmond,C.M. and Savarirayan,R.
  TITLE     Schmid Metaphyseal Chondrodysplasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   31633898
REFERENCE   7  (bases 1 to 3302)
  AUTHORS   Reichenberger E, Beier F, LuValle P, Olsen BR, von der Mark K and
            Bertling WM.
  TITLE     Genomic organization and full-length cDNA sequence of human collagen
            X
  JOURNAL   FEBS Lett 311 (3), 305-310 (1992)
   PUBMED   1397333
REFERENCE   8  (bases 1 to 3302)
  AUTHORS   Kirsch T and Pfaffle M.
  TITLE     Selective binding of anchorin CII (annexin V) to type II and X
            collagen and to chondrocalcin (C-propeptide of type II collagen).
            Implications for anchoring function between matrix vesicles and
            matrix proteins
  JOURNAL   FEBS Lett 310 (2), 143-147 (1992)
   PUBMED   1397263
REFERENCE   9  (bases 1 to 3302)
  AUTHORS   Apte SS, Seldin MF, Hayashi M and Olsen BR.
  TITLE     Cloning of the human and mouse type X collagen genes and mapping of
            the mouse type X collagen gene to chromosome 10
  JOURNAL   Eur J Biochem 206 (1), 217-224 (1992)
   PUBMED   1587271
REFERENCE   10  (bases 1 to 3302)
  AUTHORS   Reichenberger E, Aigner T, von der Mark K, Stoss H and Bertling W.
  TITLE     In situ hybridization studies on the expression of type X collagen
            in fetal human cartilage
  JOURNAL   Dev Biol 148 (2), 562-572 (1991)
   PUBMED   1743401
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC130621.1, BI521533.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2155751
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000651968.1/ ENSP00000498802.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121963.10, BI521533.1 and
            CA447328.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000493.3.
            Summary: This gene encodes the alpha chain of type X collagen, a
            short chain collagen expressed by hypertrophic chondrocytes during
            endochondral ossification. Unlike type VIII collagen, the other
            short chain collagen, type X collagen is a homotrimer. Mutations in
            this gene are associated with Schmid type metaphyseal
            chondrodysplasia (SMCD) and Japanese type spondylometaphyseal
            dysplasia (SMD). [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3302
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.1"
     gene            1..3302
                     /gene="COL10A1"
                     /note="collagen type X alpha 1 chain"
                     /db_xref="GeneID:1300"
                     /db_xref="HGNC:HGNC:2185"
                     /db_xref="MIM:120110"
     CDS             96..2138
                     /gene="COL10A1"
                     /note="Schmid metaphyseal chondrodysplasia; collagen X,
                     alpha-1 polypeptide; collagen alpha-1(X) chain; collagen,
                     type X, alpha 1"
                     /codon_start=1
                     /product="collagen alpha-1(X) chain precursor"
                     /protein_id="NP_000484.2"
                     /db_xref="CCDS:CCDS5105.1"
                     /db_xref="GeneID:1300"
                     /db_xref="HGNC:HGNC:2185"
                     /db_xref="MIM:120110"
                     /translation="MLPQIPFLLLVSLNLVHGVFYAERYQMPTGIKGPLPNTKTQFFIP
                     YTIKSKGIAVRGEQGTPGPPGPAGPRGHPGPSGPPGKPGYGSPGLQGEPGLPGPPGPSA
                     VGKPGVPGLPGKPGERGPYGPKGDVGPAGLPGPRGPPGPPGIPGPAGISVPGKPGQQGP
                     TGAPGPRGFPGEKGAPGVPGMNGQKGEMGYGAPGRPGERGLPGPQGPTGPSGPPGVGKR
                     GENGVPGQPGIKGDRGFPGEMGPIGPPGPQGPPGERGPEGIGKPGAAGAPGQPGIPGTK
                     GLPGAPGIAGPPGPPGFGKPGLPGLKGERGPAGLPGGPGAKGEQGPAGLPGKPGLTGPP
                     GNMGPQGPKGIPGSHGLPGPKGETGPAGPAGYPGAKGERGSPGSDGKPGYPGKPGLDGP
                     KGNPGLPGPKGDPGVGGPPGLPGPVGPAGAKGMPGHNGEAGPRGAPGIPGTRGPIGPPG
                     IPGFPGSKGDPGSPGPPGPAGIATKGLNGPTGPPGPPGPRGHSGEPGLPGPPGPPGPPG
                     QAVMPEGFIKAGQRPSLSGTPLVSANQGVTGMPVSAFTVILSKAYPAIGTPIPFDKILY
                     NRQQHYDPRTGIFTCQIPGIYYFSYHVHVKGTHVWVGLYKNGTPVMYTYDEYTKGYLDQ
                     ASGSAIIDLTENDQVWLQLPNAESNGLYSSEYVHSSFSGFLVAPM"
     sig_peptide     96..149
                     /gene="COL10A1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     150..2135
                     /gene="COL10A1"
                     /product="collagen alpha-1(X) chain"
     misc_feature    150..263
                     /gene="COL10A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03692.2);
                     Region: Nonhelical region (NC2)"
     misc_feature    258..1664
                     /gene="COL10A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03692.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    264..1652
                     /gene="COL10A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03692.2);
                     Region: Triple-helical region"
     misc_feature    1653..2135
                     /gene="COL10A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03692.2);
                     Region: Nonhelical region (NC1)"
     regulatory      3166..3171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL10A1"
                     /note="hexamer: AATAAA"
     polyA_site      3185
                     /gene="COL10A1"
                     /note="major polyA site"
     regulatory      3264..3269
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL10A1"
                     /note="hexamer: AATAAA"
     regulatory      3280..3285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL10A1"
                     /note="hexamer: AATAAA"
     polyA_site      3285
                     /gene="COL10A1"
                     /note="major polyA site"
     polyA_site      3302
                     /gene="COL10A1"
                     /note="major polyA site"
ORIGIN
        1 accttctgca ctgctcatct gggcagagga agcttcagaa agctgccaag gcaccatctc
       61 caggaactcc cagcacgcag aatccatctg agaatatgct gccacaaata ccctttttgc
      121 tgctagtatc cttgaacttg gttcatggag tgttttacgc tgaacgatac caaatgccca
      181 caggcataaa aggcccacta cccaacacca agacacagtt cttcattccc tacaccataa
      241 agagtaaagg tatagcagta agaggagagc aaggtactcc tggtccacca ggccctgctg
      301 gacctcgagg gcacccaggt ccttctggac caccaggaaa accaggctac ggaagtcctg
      361 gactccaagg agagccaggg ttgccaggac caccgggacc atcagctgta gggaaaccag
      421 gtgtgccagg actcccagga aaaccaggag agagaggacc atatggacca aaaggagatg
      481 ttggaccagc tggcctacca ggaccccggg gcccaccagg accacctgga atccctggac
      541 cggctggaat ttctgtgcca ggaaaacctg gacaacaggg acccacagga gccccaggac
      601 ccaggggctt tcctggagaa aagggtgcac caggagtccc tggtatgaat ggacagaaag
      661 gggaaatggg atatggtgct cctggtcgtc caggtgagag gggtcttcca ggccctcagg
      721 gtcccacagg accatctggc cctcctggag tgggaaaaag aggtgaaaat ggggttccag
      781 gacagccagg catcaaaggt gatagaggtt ttccgggaga aatgggacca attggcccac
      841 caggtcccca aggccctcct ggggaacgag ggccagaagg cattggaaag ccaggagctg
      901 ctggagcccc aggccagcca gggattccag gaacaaaagg tctccctggg gctccaggaa
      961 tagctgggcc cccagggcct cctggctttg ggaaaccagg cttgccaggc ctgaagggag
     1021 aaagaggacc tgctggcctt cctgggggtc caggtgccaa aggggaacaa gggccagcag
     1081 gtcttcctgg gaagccaggt ctgactggac cccctgggaa tatgggaccc caaggaccaa
     1141 aaggcatccc gggtagccat ggtctcccag gccctaaagg tgagacaggg ccagctgggc
     1201 ctgcaggata ccctggggct aagggtgaaa ggggttcccc tgggtcagat ggaaaaccag
     1261 ggtacccagg aaaaccaggt ctcgatggtc ctaagggtaa cccagggtta ccaggtccaa
     1321 aaggtgatcc tggagttgga ggacctcctg gtctcccagg ccctgtgggc ccagcaggag
     1381 caaagggaat gcccggacac aatggagagg ctggcccaag aggtgcccct ggaataccag
     1441 gtactagagg ccctattggg ccaccaggca ttccaggatt ccctgggtct aaaggggatc
     1501 caggaagtcc cggtcctcct ggcccagctg gcatagcaac taagggcctc aatggaccca
     1561 ccgggccacc agggcctcca ggtccaagag gccactctgg agagcctggt cttccagggc
     1621 cccctgggcc tccaggccca ccaggtcaag cagtcatgcc tgagggtttt ataaaggcag
     1681 gccaaaggcc cagtctttct gggacccctc ttgttagtgc caaccagggg gtaacaggaa
     1741 tgcctgtgtc tgcttttact gttattctct ccaaagctta cccagcaata ggaactccca
     1801 taccatttga taaaattttg tataacaggc aacagcatta tgacccaagg actggaatct
     1861 ttacttgtca gataccagga atatactatt tttcatacca cgtgcatgtg aaagggactc
     1921 atgtttgggt aggcctgtat aagaatggca cccctgtaat gtacacctat gatgaataca
     1981 ccaaaggcta cctggatcag gcttcaggga gtgccatcat cgatctcaca gaaaatgacc
     2041 aggtgtggct ccagcttccc aatgccgagt caaatggcct atactcctct gagtatgtcc
     2101 actcctcttt ctcaggattc ctagtggctc caatgtgagt acacacagag ctaatctaaa
     2161 tcttgtgcta gaaaaagcat tctctaactc taccccaccc tacaaaatgc atatggaggt
     2221 aggctgaaaa gaatgtaatt tttattttct gaaatacaga tttgagctat cagaccaaca
     2281 aaccttcccc ctgaaaagtg agcagcaacg taaaaacgta tgtgaagcct ctcttgaatt
     2341 tctagttagc aatcttaagg ctctttaagg ttttctccaa tattaaaaaa tatcaccaaa
     2401 gaagtcctgc tatgttaaaa acaaacaaca aaaaacaaac aacaaaaaaa aaattaaaaa
     2461 aaaaaacaga aatagagctc taagttatgt gaaatttgat ttgagaaact cggcatttcc
     2521 tttttaaaaa agcctgtttc taactatgaa tatgagaact tctaggaaac atccaggagg
     2581 tatcatataa ctttgtagaa cttaaatact tgaatattca aatttaaaag acactgtatc
     2641 ccctaaaata tttctgatgg tgcactactc tgaggcctgt atggcccctt tcatcaatat
     2701 ctattcaaat atacaggtgc atatatactt gttaaagctc ttatataaaa aagccccaaa
     2761 atattgaagt tcatctgaaa tgcaaggtgc tttcatcaat gaaccttttc aaacttttct
     2821 atgattgcag agaagctttt tatataccca gcataacttg gaaacaggta tctgacctat
     2881 tcttatttag ttaacacaag tgtgattaat ttgatttctt taattcctta ttgaatctta
     2941 tgtgatatga ttttctggat ttacagaaca ttagcacatg taccttgtgc ctcccattca
     3001 agtgaagtta taatttacac tgagggtttc aaaattcgac tagaagtgga gatatattat
     3061 ttatttatgc actgtactgt atttttatat tgctgtttaa aacttttaag ctgtgcctca
     3121 cttattaaag cacaaaatgt tttacctact ccttatttac gacgcaataa aataacatca
     3181 atagattttt aggctgaatt aatttgaaag cagcaatttg ctgttctcaa ccattctttc
     3241 aaggcttttc attgttcaaa gttaataaaa aagtaggaca ataaagtgat gggtggcttt
     3301 ta
//
LOCUS       NM_000494               5612 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens collagen type XVII alpha 1 chain (COL17A1), mRNA.
ACCESSION   NM_000494
VERSION     NM_000494.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5612)
  AUTHORS   Ujiie H.
  TITLE     What's new in the pathogeneses and triggering factors of bullous
            pemphigoid
  JOURNAL   J Dermatol 50 (2), 140-149 (2023)
   PUBMED   36412277
  REMARK    GeneRIF: What's new in the pathogeneses and triggering factors of
            bullous pemphigoid. Review article
REFERENCE   2  (bases 1 to 5612)
  AUTHORS   Bischof J, March OP, Liemberger B, Haas SA, Hainzl S, Petkovic I,
            Leb-Reichl V, Illmer J, Korotchenko E, Klausegger A, Hoog A, Binder
            HM, Garcia M, Duarte B, Strunk D, Larcher F, Reichelt J,
            Guttmann-Gruber C, Wally V, Hofbauer JP, Bauer JW, Cathomen T,
            Kocher T and Koller U.
  TITLE     Paired nicking-mediated COL17A1 reframing for junctional
            epidermolysis bullosa
  JOURNAL   Mol Ther 30 (8), 2680-2692 (2022)
   PUBMED   35490295
  REMARK    GeneRIF: Paired nicking-mediated COL17A1 reframing for junctional
            epidermolysis bullosa.
REFERENCE   3  (bases 1 to 5612)
  AUTHORS   Huang WL, Wu SF, Huang X and Zhou S.
  TITLE     Integrated Analysis of ECT2 and COL17A1 as Potential Biomarkers for
            Pancreatic Cancer
  JOURNAL   Dis Markers 2022, 9453549 (2022)
   PUBMED   35722628
  REMARK    GeneRIF: Integrated Analysis of ECT2 and COL17A1 as Potential
            Biomarkers for Pancreatic Cancer. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5612)
  AUTHORS   Has C, Sayar SB, Zheng S, Chacon-Solano E, Condrat I, Yadav A,
            Roberge M and Larcher Laguzzi F.
  TITLE     Read-Through for Nonsense Mutations in Type XVII Collagen-Deficient
            Junctional Epidermolysis Bullosa
  JOURNAL   J Invest Dermatol 142 (4), 1227-1230 (2022)
   PUBMED   34673051
  REMARK    GeneRIF: Read-Through for Nonsense Mutations in Type XVII
            CollagenDeficient Junctional Epidermolysis Bullosa.
REFERENCE   5  (bases 1 to 5612)
  AUTHORS   Tuusa J, Kokkonen N and Tasanen K.
  TITLE     BP180/Collagen XVII: A Molecular View
  JOURNAL   Int J Mol Sci 22 (22), 12233 (2021)
   PUBMED   34830116
  REMARK    GeneRIF: BP180/Collagen XVII: A Molecular View. Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5612)
  AUTHORS   McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR,
            Eady RA and Uitto J.
  TITLE     Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a
            hemidesmosomal transmembrane collagen (COL17A1), in generalized
            atrophic benign epidermolysis bullosa
  JOURNAL   Nat Genet 11 (1), 83-86 (1995)
   PUBMED   7550320
REFERENCE   7  (bases 1 to 5612)
  AUTHORS   Pfendner,E.G. and Lucky,A.W.
  TITLE     Junctional Epidermolysis Bullosa
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301304
REFERENCE   8  (bases 1 to 5612)
  AUTHORS   Giudice GJ, Emery DJ and Diaz LA.
  TITLE     Cloning and primary structural analysis of the bullous pemphigoid
            autoantigen BP180
  JOURNAL   J Invest Dermatol 99 (3), 243-250 (1992)
   PUBMED   1324962
REFERENCE   9  (bases 1 to 5612)
  AUTHORS   Li KH, Sawamura D, Giudice GJ, Diaz LA, Mattei MG, Chu ML and Uitto
            J.
  TITLE     Genomic organization of collagenous domains and chromosomal
            assignment of human 180-kDa bullous pemphigoid antigen-2, a novel
            collagen of stratified squamous epithelium
  JOURNAL   J Biol Chem 266 (35), 24064-24069 (1991)
   PUBMED   1748679
REFERENCE   10  (bases 1 to 5612)
  AUTHORS   Sawamura D, Li KH, Nomura K, Sugita Y, Christiano AM and Uitto J.
  TITLE     Bullous pemphigoid antigen: cDNA cloning, cellular expression, and
            evidence for polymorphism of the human gene
  JOURNAL   J Invest Dermatol 96 (6), 908-915 (1991)
   PUBMED   2045679
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M91669.1, SRR11853567.4354.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000648076.2/ ENSP00000497653.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA646288.1, M91669.1,
            AL138761.12, AF136185.1 and AI572644.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 12, 2018 this sequence version replaced NM_000494.3.
            Summary: This gene encodes the alpha chain of type XVII collagen.
            Unlike most collagens, collagen XVII is a transmembrane protein.
            Collagen XVII is a structural component of hemidesmosomes,
            multiprotein complexes at the dermal-epidermal basement membrane
            zone that mediate adhesion of keratinocytes to the underlying
            membrane. Mutations in this gene are associated with both
            generalized atrophic benign and junctional epidermolysis bullosa.
            Two homotrimeric forms of type XVII collagen exist. The full length
            form is the transmembrane protein. A soluble form, referred to as
            either ectodomain or LAD-1, is generated by proteolytic processing
            of the full length form. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5612
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.1"
     gene            1..5612
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="collagen type XVII alpha 1 chain"
                     /db_xref="GeneID:1308"
                     /db_xref="HGNC:HGNC:2194"
                     /db_xref="MIM:113811"
     misc_feature    62..64
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="upstream in-frame stop codon"
     CDS             170..4663
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="collagen XVII, alpha-1 polypeptide; alpha 1 type
                     XVII collagen; bullous pemphigoid antigen 2 (180kD); type
                     XVII collagen alpha-1; bA16H23.2 (collagen, type XVII,
                     alpha 1 (BP180)); 180 kDa bullous pemphigoid antigen 2"
                     /codon_start=1
                     /product="collagen alpha-1(XVII) chain"
                     /protein_id="NP_000485.3"
                     /db_xref="CCDS:CCDS7554.1"
                     /db_xref="GeneID:1308"
                     /db_xref="HGNC:HGNC:2194"
                     /db_xref="MIM:113811"
                     /translation="MDVTKKNKRDGTEVTERIVTETVTTRLTSLPPKGGTSNGYAKTAS
                     LGGGSRLEKQSLTHGSSGYINSTGSTRGHASTSSYRRAHSPASTLPNSPGSTFERKTHV
                     TRHAYEGSSSGNSSPEYPRKEFASSSTRGRSQTRESEIRVRLQSASPSTRWTELDDVKR
                     LLKGSRSASVSPTRNSSNTLPIPKKGTVETKIVTASSQSVSGTYDATILDANLPSHVWS
                     STLPAGSSMGTYHNNMTTQSSSLLNTNAYSAGSVFGVPNNMASCSPTLHPGLSTSSSVF
                     GMQNNLAPSLTTLSHGTTTTSTAYGVKKNMPQSPAAVNTGVSTSAACTTSVQSDDLLHK
                     DCKFLILEKDNTPAKKEMELLIMTKDSGKVFTASPASIAATSFSEDTLKKEKQAAYNAD
                     SGLKAEANGDLKTVSTKGKTTTADIHSYGSSGGGGSGGGGGVGGAGGGPWGPAPAWCPC
                     GSCCSWWKWLLGLLLTWLLLLGLLFGLIALAEEVRKLKARVDELERIRRSILPYGDSMD
                     RIEKDRLQGMAPAAGADLDKIGLHSDSQEELWMFVRKKLMMEQENGNLRGSPGPKGDMG
                     SPGPKGDRGFPGTPGIPGPLGHPGPQGPKGQKGSVGDPGMEGPMGQRGREGPMGPRGEA
                     GPPGSGEKGERGAAGEPGPHGPPGVPGSVGPKGSSGSPGPQGPPGPVGLQGLRGEVGLP
                     GVKGDKGPMGPPGPKGDQGEKGPRGLTGEPGMRGLPGAVGEPGAKGAMGPAGPDGHQGP
                     RGEQGLTGMPGIRGPPGPSGDPGKPGLTGPQGPQGLPGTPGRPGIKGEPGAPGKIVTSE
                     GSSMLTVPGPPGPPGAMGPPGPPGAPGPAGPAGLPGHQEVLNLQGPPGPPGPRGPPGPS
                     IPGPPGPRGPPGEGLPGPPGPPGSFLSNSETFLSGPPGPPGPPGPKGDQGPPGPRGHQG
                     EQGLPGFSTSGSSSFGLNLQGPPGPPGPQGPKGDKGDPGVPGALGIPSGPSEGGSSSTM
                     YVSGPPGPPGPPGPPGSISSSGQEIQQYISEYMQSDSIRSYLSGVQGPPGPPGPPGPVT
                     TITGETFDYSELASHVVSYLRTSGYGVSLFSSSISSEDILAVLQRDDVRQYLRQYLMGP
                     RGPPGPPGASGDGSLLSLDYAELSSRILSYMSSSGISIGLPGPPGPPGLPGTSYEELLS
                     LLRGSEFRGIVGPPGPPGPPGIPGNVWSSISVEDLSSYLHTAGLSFIPGPPGPPGPPGP
                     RGPPGVSGALATYAAENSDSFRSELISYLTSPDVRSFIVGPPGPPGPQGPPGDSRLLST
                     DASHSRGSSSSSHSSSVRRGSSYSSSMSTGGGGAGSLGAGGAFGEAAGDRGPYGTDIGP
                     GGGYGAAAEGGMYAGNGGLLGADFAGDLDYNELAVRVSESMQRQGLLQGMAYTVQGPPG
                     QPGPQGPPGISKVFSAYSNVTADLMDFFQTYGAIQGPPGQKGEMGTPGPKGDRGPAGPP
                     GHPGPPGPRGHKGEKGDKGDQVYAGRRRRRSIAVKP"
     misc_feature    170..1867
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMD9.3);
                     Region: Nonhelical region (NC16)"
     misc_feature    170..631
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMD9.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    602..859
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMD9.3);
                     Region: Necessary for interaction with DST and for the
                     recruitment of DST to hemidesmosome.
                     /evidence=ECO:0000269|PubMed:12482924"
     misc_feature    668..727
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMD9.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1571..1633
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMD9.3);
                     transmembrane region"
     mat_peptide     1739..4660
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /product="120 kDa linear IgA disease antigen.
                     /id=PRO_0000342555"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMD9.3)"
     misc_feature    1799..1801
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:17545155; propagated from
                     UniProtKB/Swiss-Prot (Q9UMD9.3); phosphorylation site"
     misc_feature    1853..3202
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMD9.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1868..4615
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMD9.3);
                     Region: Triple-helical region"
     misc_feature    3794..3871
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMD9.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3950..4117
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMD9.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4430..4432
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:9748270; propagated from
                     UniProtKB/Swiss-Prot (Q9UMD9.3); glycosylation site"
     misc_feature    4469..4660
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMD9.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4616..4660
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMD9.3);
                     Region: Nonhelical region (NC1)"
     regulatory      5588..5593
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="hexamer: ATTAAA"
     polyA_site      5610
                     /gene="COL17A1"
                     /gene_synonym="BA16H23.2; BP180; BPA-2; BPAG2; EBR2A; ERED;
                     JEB-I; JEB4; LAD-1"
                     /note="major polyA site"
ORIGIN
        1 aacatttttg aaagatcact cagctttaac acaccttggc tgggtctgga taaaaaaaaa
       61 gtgagcactg caaatttcta gaagaaaaca tcaggagaag aaagagagag ggggatttat
      121 tcaaagttgt ttccaattcc ttcaaaacct caaaccaggt ggctatggta tggatgtaac
      181 caagaaaaac aaacgagatg gaactgaagt cactgagaga attgtcactg aaacagtaac
      241 cacaagactt acatccttac caccaaaagg cgggaccagc aatggctatg ctaaaacagc
      301 ctctcttggt ggagggagcc ggctggagaa acaaagcctg actcatggca gcagcggcta
      361 cataaactca actggaagca cacgaggcca tgcctccacc tctagttaca ggagggctca
      421 ctcacctgcc tccactctgc ccaactcccc aggctcaacc tttgaaagga aaactcacgt
      481 tacccgccat gcgtatgaag ggagctccag tggcaactct tctccggagt accctcggaa
      541 ggaatttgca tcttcttcaa ccagaggacg gagtcaaaca cgagagagtg aaattcgagt
      601 tcgactgcag agtgcgtccc catccacccg atggacagaa ttggatgatg ttaagcgttt
      661 gctcaagggg agtcgatcgg caagtgtgag ccccacccgg aattcctcca acacactccc
      721 catccccaag aaaggcactg tggagaccaa aattgtgaca gcgagctccc agtcggtgtc
      781 aggcacctac gatgcaacga tcctggatgc caaccttccc tcccatgtgt ggtcctccac
      841 cctgcccgcg gggtcctcca tggggaccta tcacaacaac atgacaaccc agagctcatc
      901 cctcctcaac accaatgcct actctgcggg atcagtcttc ggagttccaa acaacatggc
      961 gtcctgctca cccactttgc accctggact cagcacatcc tcctcagtgt ttggcatgca
     1021 gaacaatctg gcccccagct tgaccaccct gtcccatggc accaccacca cttccacagc
     1081 atatggggtg aagaaaaaca tgccccagag tcctgcggct gtgaacactg gcgtttccac
     1141 ctccgccgcc tgcaccacaa gtgtgcagag cgatgacctt ttgcacaagg actgcaagtt
     1201 cctgatccta gagaaagaca acacacctgc caagaaggag atggagctgc tcatcatgac
     1261 caaggacagc gggaaggtct ttacagcctc ccctgccagc atcgctgcaa cttctttttc
     1321 agaagacacc ctaaaaaaag aaaagcaagc tgcctacaat gctgactcag gcctaaaagc
     1381 cgaagctaat ggagacctga agactgtgtc cacaaagggc aagaccacca ctgcagatat
     1441 ccacagctac ggcagcagtg gtggtggtgg cagtggagga ggtggcggtg ttggtggcgc
     1501 tggcggcggc ccttggggac cagcgccagc ctggtgcccc tgcggctcct gctgcagctg
     1561 gtggaagtgg ctgctgggcc tgctgctcac ctggctgcta ctcctggggc tgctcttcgg
     1621 cctcattgct ctggcggagg aggtgaggaa gctgaaggcg cgtgtggatg agctggagag
     1681 gatcaggagg agcatactgc cctatgggga cagcatggat agaatagaaa aggaccgcct
     1741 ccagggcatg gcacccgcgg cgggagcaga cctggacaaa attgggctgc acagtgacag
     1801 ccaggaggag ctctggatgt tcgtgaggaa gaagctaatg atggaacagg aaaatggaaa
     1861 tctccgagga agccctggcc ctaaaggtga catgggaagt ccaggcccta aaggagatcg
     1921 agggttccct gggactccag gtatccctgg gcccttgggc cacccaggtc cacaaggacc
     1981 aaagggtcaa aaaggcagcg tgggagatcc tggcatggaa ggccccatgg gccagagagg
     2041 gcgagaaggc cccatgggac ctcgtggtga ggcagggcct cctggatctg gagagaaagg
     2101 ggaaagaggg gctgctggtg aaccaggtcc tcatggccca cctggtgtcc caggttctgt
     2161 gggtcccaaa ggttccagcg gctctcctgg cccacagggc cctccaggtc ctgtaggtct
     2221 ccaagggctc cgaggtgaag taggacttcc tggtgtcaaa ggtgacaaag gaccaatggg
     2281 accaccagga cccaaaggtg accagggtga gaaaggacct cgaggcctca caggcgagcc
     2341 tggcatgaga ggtttgcctg gtgctgttgg tgagcccggg gctaaaggag caatgggtcc
     2401 tgctggccca gacggacacc aaggcccaag aggtgaacaa ggtcttactg ggatgcctgg
     2461 aatccgtggc ccaccaggac cttctggaga cccaggaaag ccaggtctca caggacccca
     2521 gggacctcag ggacttcccg gtacccctgg ccgaccagga ataaaaggtg aaccaggagc
     2581 tccaggcaag atcgtgactt cggaggggtc atcgatgctc actgtcccag gccccccagg
     2641 acctcctgga gccatgggac ccccaggacc tccaggtgcc ccaggccctg ccggcccagc
     2701 tggtctccca ggacatcaag aagttcttaa tttacaaggt cccccaggcc cacccggccc
     2761 acgcgggcca ccagggcctt ccattccagg cccaccagga ccccgaggcc caccagggga
     2821 gggtttgcca ggcccaccag gcccaccagg atcgttcctg tccaactcag aaaccttcct
     2881 ctccggcccc ccaggcccac ctggcccccc aggtcccaag ggagaccaag gtcccccagg
     2941 ccccagagga caccaaggcg agcaaggcct cccaggtttc tcaacctcag ggtccagttc
     3001 tttcggactc aaccttcagg gaccaccagg cccacctggc ccccagggac ccaaaggtga
     3061 caaaggtgat ccaggtgttc caggggctct tggcattcct agtggtcctt ctgaaggggg
     3121 atcatcaagt accatgtacg tgtcaggccc gccagggccc cctgggcccc ctgggcctcc
     3181 gggctctatc agcagctctg gccaggagat tcagcagtac atctctgagt acatgcagag
     3241 tgacagtatt agatcttacc tatccggagt tcagggtccc ccaggcccac ctggtccccc
     3301 aggacctgtc accaccatca caggcgagac tttcgactac tcagagctgg caagccacgt
     3361 tgtgagctac ttacggactt cggggtacgg tgtcagcttg ttctcgtcct ccatctcttc
     3421 tgaagacatt ctggctgtgc tgcagcggga tgacgtgcgt cagtacctac gtcagtactt
     3481 gatgggccct cggggtccgc cagggccacc aggagccagt ggagatgggt ccctcctgtc
     3541 tttggactat gcagagctga gtagtcgcat tctcagctac atgtcgagtt ctgggatcag
     3601 cattgggctt cctggtcccc cggggccccc tggcttgccg ggaacctcct atgaggagct
     3661 cctctccttg ctgcgagggt ctgaattcag aggcatcgtt ggacccccag gtcccccggg
     3721 tccaccaggg atcccaggca atgtgtggtc cagcatcagc gtggaggacc tctcgtctta
     3781 cttacatact gccggcttgt cattcatccc aggccctcca ggacctcctg gtcccccagg
     3841 gcctcgaggg cccccgggtg tctcaggagc cctggcaacc tatgcagctg aaaacagcga
     3901 cagcttccgg agcgagctga tcagctacct cacaagtcct gatgtgcgca gcttcattgt
     3961 tggcccccca ggccctcctg ggccgcaggg accccctggg gacagccgcc tcctgtccac
     4021 ggatgcctcc cacagtcggg gtagcagctc ctcctcacac agctcatctg tcaggcgggg
     4081 cagctcctac agctcttcca tgagcacagg aggaggtggt gcaggctccc tgggtgcagg
     4141 cggtgccttt ggtgaagctg caggagacag gggtccctat ggcactgaca tcggcccagg
     4201 cggaggctat ggggcagcag cagaaggcgg catgtatgct ggcaatggcg gactattggg
     4261 agctgacttt gctggagatc tggattacaa tgagctggct gtgagggtgt cagagagcat
     4321 gcagcgtcag ggcctactgc aagggatggc ctacactgtc cagggcccac caggccagcc
     4381 tgggccacag gggccacccg gcatcagcaa ggtcttctct gcctacagca acgtgactgc
     4441 ggacctcatg gacttcttcc aaacttatgg agccattcaa ggaccccctg ggcaaaaagg
     4501 agagatgggc actccaggac ccaaaggtga caggggccct gctgggccac caggtcatcc
     4561 tgggccacct ggccctcgag gacacaaggg agaaaaagga gacaaaggtg accaagtcta
     4621 tgctgggcgg agaaggagaa gaagtattgc tgtcaagccg tgagctagcc atggcaggac
     4681 agctcctgga ccaggtctca taatgcatgt ggcacttagg tccaaggtct ccagagggtg
     4741 aaagctggag tctgtcaatg tcctactgag acagcacagc caacctagct agcaacattt
     4801 gttttagtct gaacaatata tacttataga attcagtcaa agatacacaa tctgaaacag
     4861 cttcatgggg tggactctaa cagtagttgc aatgttttag aatgagactt acttctctgc
     4921 tatctagatc tgaactcctt ggcttcttta cttagttcaa gccccagcct aggaaagcca
     4981 gttacataaa agttggctca ggagtcttag agctttacct aaatatgagc ccagaaaacg
     5041 gaggatgggg gtggggcgcc ttcctggagg tgacacttga tgggggtgtg ttctggttac
     5101 tgttctaagg ctgtgccatc agctccttcc tcccctgttc attctgcatt ctctagtcag
     5161 ttggctaaga agtgactctt gcaactaaaa aaattaagaa attcacttcc cctctaggag
     5221 gtgatgatag ggtttctaat ggttatatgt atatcacatt cccatttgct tagaaagtct
     5281 gattgtagct atgattgtcc gtaggcccat actagagttc atggatatgt tatactgaac
     5341 caggccagag caaacagaaa aagaaggttg agggcaatgg acaaggaagg aataaaggga
     5401 gaagagggaa aacagaaaac ctgatgctgg ggacacagca tcagctcaag acgtcaccct
     5461 ccattctgca ctcagaaaat ggcacttggg ggactgggcg cagttggtct ttaaccactt
     5521 ttcaatgtct aaaaacattt gtttgtggtc tataagatga aacatcattt caatcgtaaa
     5581 atttcccatt aaagaagttt ttttttctaa ta
//
LOCUS       NM_000496                769 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens crystallin beta B2 (CRYBB2), mRNA.
ACCESSION   NM_000496
VERSION     NM_000496.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 769)
  AUTHORS   Wu J, Chen S, Xu J, Xu W, Zheng S, Tian Q, Luo C, Chen X and Shentu
            X.
  TITLE     Insight into Pathogenic Mechanism Underlying the Hereditary Cataract
            Caused by betaB2-G149V Mutation
  JOURNAL   Biomolecules 13 (5), 864 (2023)
   PUBMED   37238733
  REMARK    GeneRIF: Insight into Pathogenic Mechanism Underlying the Hereditary
            Cataract Caused by betaB2-G149V Mutation. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 769)
  AUTHORS   Velasco-Bolom JL and Dominguez L.
  TITLE     Conformational stability of the deamidated and mutated human
            betaB2-crystallin
  JOURNAL   Biophys Chem 296, 106986 (2023)
   PUBMED   36905841
  REMARK    GeneRIF: Conformational stability of the deamidated and mutated
            human betaB2-crystallin.
REFERENCE   3  (bases 1 to 769)
  AUTHORS   Yan Y, Narayan A, Cho S, Cheng Z, Liu JO, Zhu H, Wang G, Wharram B,
            Lisok A, Brummet M, Saeki H, Huang T, Gabrielson K, Gabrielson E,
            Cope L, Kanaan YM, Afsari A, Naab T, Yfantis HG, Ambs S, Pomper MG,
            Sukumar S and Merino VF.
  TITLE     CRYbetaB2 enhances tumorigenesis through upregulation of nucleolin
            in triple negative breast cancer
  JOURNAL   Oncogene 40 (38), 5752-5763 (2021)
   PUBMED   34341513
  REMARK    GeneRIF: CRYbetaB2 enhances tumorigenesis through upregulation of
            nucleolin in triple negative breast cancer.
REFERENCE   4  (bases 1 to 769)
  AUTHORS   Xu J, Wang H, Wang A, Xu J, Fu C, Jia Z, Yao K and Chen X.
  TITLE     betaB2 W151R mutant is prone to degradation, aggregation and exposes
            the hydrophobic side chains in the fourth Greek Key motif
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1867 (2), 166018 (2021)
   PUBMED   33246011
  REMARK    GeneRIF: betaB2 W151R mutant is prone to degradation, aggregation
            and exposes the hydrophobic side chains in the fourth Greek Key
            motif.
REFERENCE   5  (bases 1 to 769)
  AUTHORS   Song IK, Na S, Paek E and Lee KJ.
  TITLE     Cataract-Associated New Mutants S175G/H181Q of betaBeta2-Crystallin
            and P24S/S31G of gammaD-Crystallin Are Involved in Protein
            Aggregation by Structural Changes
  JOURNAL   Int J Mol Sci 21 (18), 6504 (2020)
   PUBMED   32899552
  REMARK    GeneRIF: Cataract-Associated New Mutants S175G/H181Q of
            betaBeta2-Crystallin and P24S/S31G of gammaD-Crystallin Are Involved
            in Protein Aggregation by Structural Changes. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 769)
  AUTHORS   Miesbauer LR, Zhou X, Yang Z, Yang Z, Sun Y, Smith DL and Smith JB.
  TITLE     Post-translational modifications of water-soluble human lens
            crystallins from young adults
  JOURNAL   J Biol Chem 269 (17), 12494-12502 (1994)
   PUBMED   8175657
REFERENCE   7  (bases 1 to 769)
  AUTHORS   Chambers C and Russell P.
  TITLE     Sequence of the human lens beta B2-crystallin-encoding cDNA
  JOURNAL   Gene 133 (2), 295-299 (1993)
   PUBMED   8224918
REFERENCE   8  (bases 1 to 769)
  AUTHORS   Datiles MB, Schumer DJ, Zigler JS Jr, Russell P, Anderson L and
            Garland D.
  TITLE     Two-dimensional gel electrophoretic analysis of human lens proteins
  JOURNAL   Curr Eye Res 11 (7), 669-677 (1992)
   PUBMED   1521468
REFERENCE   9  (bases 1 to 769)
  AUTHORS   Hulsebos TJ, Bijlsma EK, Geurts van Kessel AH, Brakenhoff RH and
            Westerveld A.
  TITLE     Direct assignment of the human beta B2 and beta B3 crystallin genes
            to 22q11.2----q12: markers for neurofibromatosis 2
  JOURNAL   Cytogenet Cell Genet 56 (3-4), 171-175 (1991)
   PUBMED   2055112
REFERENCE   10  (bases 1 to 769)
  AUTHORS   Aarts HJ, Den Dunnen JT, Lubsen NH and Schoenmakers JG.
  TITLE     Linkage between the beta B2 and beta B3 crystallin genes in man and
            rat: a remnant of an ancient beta-crystallin gene cluster
  JOURNAL   Gene 59 (1), 127-135 (1987)
   PUBMED   3436525
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BY794982.2, KR052784.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000398215.3/ ENSP00000381273.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z99916.1, BF847403.1,
            BC069535.1 and BM667912.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000496.2.
            Summary: Crystallins are separated into two classes:
            taxon-specific, or enzyme, and ubiquitous. The latter class
            constitutes the major proteins of vertebrate eye lens and maintains
            the transparency and refractive index of the lens. Since lens
            central fiber cells lose their nuclei during development, these
            crystallins are made and then retained throughout life, making them
            extremely stable proteins. Mammalian lens crystallins are divided
            into alpha, beta, and gamma families; beta and gamma crystallins
            are also considered as a superfamily. Alpha and beta families are
            further divided into acidic and basic groups. Seven protein regions
            exist in crystallins: four homologous motifs, a connecting peptide,
            and N- and C-terminal extensions. Beta-crystallins, the most
            heterogeneous, differ by the presence of the C-terminal extension
            (present in the basic group, none in the acidic group).
            Beta-crystallins form aggregates of different sizes and are able to
            self-associate to form dimers or to form heterodimers with other
            beta-crystallins. This gene, a beta basic group member, is part of
            a gene cluster with beta-A4, beta-B1, and beta-B3. A
            chain-terminating mutation was found to cause type 2 cerulean
            cataracts. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..769
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     gene            1..769
                     /gene="CRYBB2"
                     /gene_synonym="CCA2; CRYB2; CRYB2A; CTRCT3; D22S665"
                     /note="crystallin beta B2"
                     /db_xref="GeneID:1415"
                     /db_xref="HGNC:HGNC:2398"
                     /db_xref="MIM:123620"
     CDS             55..672
                     /gene="CRYBB2"
                     /gene_synonym="CCA2; CRYB2; CRYB2A; CTRCT3; D22S665"
                     /note="eye lens structural protein; beta-B2 crystallin;
                     beta-crystallin Bp; CTA-221G9.7"
                     /codon_start=1
                     /product="beta-crystallin B2"
                     /protein_id="NP_000487.1"
                     /db_xref="CCDS:CCDS13831.1"
                     /db_xref="GeneID:1415"
                     /db_xref="HGNC:HGNC:2398"
                     /db_xref="MIM:123620"
                     /translation="MASDHQTQAGKPQSLNPKIIIFEQENFQGHSHELNGPCPNLKETG
                     VEKAGSVLVQAGPWVGYEQANCKGEQFVFEKGEYPRWDSWTSSRRTDSLSSLRPIKVDS
                     QEHKIILYENPNFTGKKMEIIDDDVPSFHAHGYQEKVSSVRVQSGTWVGYQYPGYRGLQ
                     YLLEKGDYKDSSDFGAPHPQVQSVRRIRDMQWHQRGAFHPSN"
     misc_feature    58..102
                     /gene="CRYBB2"
                     /gene_synonym="CCA2; CRYB2; CRYB2A; CTRCT3; D22S665"
                     /note="propagated from UniProtKB/Swiss-Prot (P43320.2);
                     Region: N-terminal arm"
     misc_feature    58..60
                     /gene="CRYBB2"
                     /gene_synonym="CCA2; CRYB2; CRYB2A; CTRCT3; D22S665"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000269|PubMed:8443605; propagated from
                     UniProtKB/Swiss-Prot (P43320.2); acetylation site"
     misc_feature    358..372
                     /gene="CRYBB2"
                     /gene_synonym="CCA2; CRYB2; CRYB2A; CTRCT3; D22S665"
                     /note="propagated from UniProtKB/Swiss-Prot (P43320.2);
                     Region: Connecting peptide"
     misc_feature    631..669
                     /gene="CRYBB2"
                     /gene_synonym="CCA2; CRYB2; CRYB2A; CTRCT3; D22S665"
                     /note="propagated from UniProtKB/Swiss-Prot (P43320.2);
                     Region: C-terminal arm"
     regulatory      747..752
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRYBB2"
                     /gene_synonym="CCA2; CRYB2; CRYB2A; CTRCT3; D22S665"
                     /note="hexamer: AATAAA"
     polyA_site      769
                     /gene="CRYBB2"
                     /gene_synonym="CCA2; CRYB2; CRYB2A; CTRCT3; D22S665"
                     /note="major polyA site"
ORIGIN
        1 acggcactcg caggggctgg tgtcactggt cattcctgca caggacagtc caccatggcc
       61 tcagatcacc agacccaggc gggcaagcca cagtccctca accccaagat catcatcttt
      121 gagcaggaaa actttcaagg ccactcgcat gagctcaatg ggccctgccc caacctgaag
      181 gaaactggcg tggagaaggc aggttctgtc ctagtgcagg ctggaccctg ggtgggctat
      241 gaacaggcca actgcaaggg cgagcagttt gtgtttgaga agggtgagta cccccgctgg
      301 gactcatgga ccagcagccg aaggacggac tccctcagct ccctgaggcc catcaaagtg
      361 gacagccaag agcacaagat catcctctat gaaaacccca acttcaccgg gaagaagatg
      421 gaaatcatag atgacgatgt acccagcttc cacgcccatg gctaccagga gaaggtgtca
      481 tctgtgcggg tgcagagtgg cacgtgggtt ggctaccagt accccggcta ccgtgggctg
      541 cagtacctgc tggagaaggg agactacaag gacagcagcg actttggggc ccctcacccc
      601 caggtgcagt ccgtgcgccg tatccgcgac atgcagtggc accaacgtgg tgccttccac
      661 ccctccaact agtgccctcc ccaccatgcc tccttcccag gacccaggtc tgctgcccag
      721 gaaccctcca gacctcccag agagtgaata aagtgtgact tgcaacttg
//
LOCUS       NM_000497               3540 bp    mRNA    linear   PRI 26-MAR-2023
DEFINITION  Homo sapiens cytochrome P450 family 11 subfamily B member 1
            (CYP11B1), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_000497
VERSION     NM_000497.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3540)
  AUTHORS   Sun B, Lu L, Xie S, Zhang W, Zhang X, Tong A, Chen S, Wu X, Mao J,
            Wang X, Qiu L and Nie M.
  TITLE     Molecular analysis of 12 Chinese patients with 11beta-hydroxylase
            deficiency and in vitro functional study of 20 CYP11B1 missense
            variants
  JOURNAL   FASEB J 37 (4), e22869 (2023)
   PUBMED   36929050
  REMARK    GeneRIF: Molecular analysis of 12 Chinese patients with
            11beta-hydroxylase deficiency and in vitro functional study of 20
            CYP11B1 missense variants.
REFERENCE   2  (bases 1 to 3540)
  AUTHORS   Huang X, Cheng Y and Wang N.
  TITLE     Genetic variants in CYP11B1 influence the susceptibility to coronary
            heart disease
  JOURNAL   BMC Med Genomics 15 (1), 158 (2022)
   PUBMED   35831903
  REMARK    GeneRIF: Genetic variants in CYP11B1 influence the susceptibility to
            coronary heart disease. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3540)
  AUTHORS   Wu YC, Chen CI, Chen PY, Kuo CH, Hung YH, Peng KY, Wu VC, Tsai-Wu JJ
            and Hsu CL.
  CONSRTM   TAIPAI group
  TITLE     GRAde: a long-read sequencing approach to efficiently identifying
            the CYP11B1/CYP11B2 chimeric form in patients with
            glucocorticoid-remediable aldosteronism
  JOURNAL   BMC Bioinformatics 22 (Suppl 10), 613 (2022)
   PUBMED   35012455
  REMARK    GeneRIF: GRAde: a long-read sequencing approach to efficiently
            identifying the CYP11B1/CYP11B2 chimeric form in patients with
            glucocorticoid-remediable aldosteronism. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3540)
  AUTHORS   Lin JH, Peng KY, Kuo YP, Liu H, Tan CB, Lin YF, Chiu HW, Lin YH,
            Chen YM, Chueh JS and Wu VC.
  TITLE     Aldosterone-producing nodules and CYP11B1 signaling correlate in
            primary aldosteronism
  JOURNAL   Endocr Relat Cancer 29 (2), 59-69 (2022)
   PUBMED   34821221
  REMARK    GeneRIF: Aldosterone-producing nodules and CYP11B1 signaling
            correlate in primary aldosteronism. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3540)
  AUTHORS   Grgic O, Gazzara MR, Chesi A, Medina-Gomez C, Cousminer DL, Mitchell
            JA, Prijatelj V, de Vries J, Shevroja E, McCormack SE, Kalkwarf HJ,
            Lappe JM, Gilsanz V, Oberfield SE, Shepherd JA, Kelly A, Mahboubi S,
            Faucz FR, Feelders RA, de Jong FH, Uitterlinden AG, Visser JA,
            Ghanem LR, Wolvius EB, Hofland LJ, Stratakis CA, Zemel BS, Barash Y,
            Grant SFA and Rivadeneira F.
  TITLE     CYP11B1 variants influence skeletal maturation via alternative
            splicing
  JOURNAL   Commun Biol 4 (1), 1274 (2021)
   PUBMED   34754074
  REMARK    GeneRIF: CYP11B1 variants influence skeletal maturation via
            alternative splicing. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3540)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 3540)
  AUTHORS   Helmberg A, Ausserer B and Kofler R.
  TITLE     Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1
            causes congenital adrenal hyperplasia due to steroid 11
            beta-hydroxylase deficiency
  JOURNAL   J Clin Endocrinol Metab 75 (5), 1278-1281 (1992)
   PUBMED   1430088
REFERENCE   8  (bases 1 to 3540)
  AUTHORS   Pascoe L, Curnow KM, Slutsker L, Connell JM, Speiser PW, New MI and
            White PC.
  TITLE     Glucocorticoid-suppressible hyperaldosteronism results from hybrid
            genes created by unequal crossovers between CYP11B1 and CYP11B2
  JOURNAL   Proc Natl Acad Sci U S A 89 (17), 8327-8331 (1992)
   PUBMED   1518866
REFERENCE   9  (bases 1 to 3540)
  AUTHORS   Lifton RP, Dluhy RG, Powers M, Rich GM, Gutkin M, Fallo F, Gill JR
            Jr, Feld L, Ganguly A, Laidlaw JC et al.
  TITLE     Hereditary hypertension caused by chimaeric gene duplications and
            ectopic expression of aldosterone synthase
  JOURNAL   Nat Genet 2 (1), 66-74 (1992)
   PUBMED   1303253
REFERENCE   10  (bases 1 to 3540)
  AUTHORS   Kawamoto T, Mitsuuchi Y, Toda K, Yokoyama Y, Miyahara K, Miura S,
            Ohnishi T, Ichikawa Y, Nakao K, Imura H et al.
  TITLE     Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in
            the biosynthesis of glucocorticoids and mineralocorticoids in humans
  JOURNAL   Proc Natl Acad Sci U S A 89 (4), 1458-1462 (1992)
   PUBMED   1741400
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF478474.1, X55764.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968968
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000292427.10/ ENSP00000292427.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC083841.9, AF478474.1,
            X55764.1 and BX647738.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 4, 2019 this sequence version replaced NM_000497.3.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the mitochondrial inner membrane and is
            involved in the conversion of progesterone to cortisol in the
            adrenal cortex. Mutations in this gene cause congenital adrenal
            hyperplasia due to 11-beta-hydroxylase deficiency. Transcript
            variants encoding different isoforms have been noted for this gene.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3540
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..3540
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /note="cytochrome P450 family 11 subfamily B member 1"
                     /db_xref="GeneID:1584"
                     /db_xref="HGNC:HGNC:2591"
                     /db_xref="MIM:610613"
     CDS             13..1524
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /EC_number="1.14.15.4"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; cytochrome p450 XIB1; steroid 11-beta-monooxygenase;
                     cytochrome P450, subfamily XIB (steroid
                     11-beta-hydroxylase), polypeptide 1; cytochrome P450 11B1,
                     mitochondrial; cytochrome P450C11; cytochrome P-450c11;
                     cytochrome P450, family 11, subfamily B, polypeptide 1;
                     steroid 11-beta-hydroxylase, CYP11B1"
                     /codon_start=1
                     /product="cytochrome P450 11B1, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_000488.3"
                     /db_xref="CCDS:CCDS6392.1"
                     /db_xref="GeneID:1584"
                     /db_xref="HGNC:HGNC:2591"
                     /db_xref="MIM:610613"
                     /translation="MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRP
                     GNRWLRLLQIWREQGYEDLHLEVHQTFQELGPIFRYDLGGAGMVCVMLPEDVEKLQQVD
                     SLHPHRMSLEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPMVDA
                     VARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLN
                     FLHALEVMFKSTVQLMFMPRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFS
                     RPQQYTSIVAELLLNAELSPDAIKANSMELTAGSVDTTVFPLLMTLFELARNPNVQQAL
                     RQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVASSDLVLQNYHIPA
                     GTLVRVFLYSLGRNPALFPRPERYNPQRWLDIRGSGRNFYHVPFGFGMRQCLGRRLAEA
                     EMLLLLHHVLKHLQVETLTQEDIKMVYSFILRPSMFPLLTFRAIN"
     mat_peptide     85..1521
                     /gene="CYP11B1"
                     /gene_synonym="CPN1; CYP11B; FHI; P450C11"
                     /product="cytochrome P450 11B1, mitochondrial isoform 1"
ORIGIN
        1 gggagcattg gaatggcact cagggcaaag gcagaggtgt gcatggcagt gccctggctg
       61 tccctgcaaa gggcacaggc actgggcacg agagccgccc gggtccccag gacagtgctg
      121 ccctttgaag ccatgccccg gcgtccaggc aacaggtggc tgaggctgct gcagatctgg
      181 agggagcagg gttatgagga cctgcacctg gaagtacacc agaccttcca ggaactaggg
      241 cccattttca ggtacgactt gggaggagca ggcatggtgt gtgtgatgct gccggaggac
      301 gtggagaagc tgcaacaggt ggacagcctg catccccaca ggatgagcct ggagccctgg
      361 gtggcctaca gacaacatcg tgggcacaaa tgtggcgtgt tcttgctgaa tgggcctgaa
      421 tggcgcttca accgattgcg gctgaatcca gaagtgctgt cgcccaacgc tgtgcagagg
      481 ttcctcccga tggtggatgc agtggccagg gacttctccc aggccctgaa gaagaaggtg
      541 ctgcagaacg cccgggggag cctgaccctg gacgtccagc ccagcatctt ccactacacc
      601 atagaagcca gcaacttggc tctttttgga gagcggctgg gcctggttgg ccacagcccc
      661 agttctgcca gcctgaactt cctccatgcc ctggaggtca tgttcaaatc caccgtccag
      721 ctcatgttca tgcccaggag cctgtctcgc tggaccagcc ccaaggtgtg gaaggagcac
      781 tttgaggcct gggactgcat cttccagtac ggcgacaact gtatccagaa aatctatcag
      841 gaactggcct tcagccgccc tcaacagtac accagcatcg tggcggagct cctgttgaat
      901 gcggaactgt cgccagatgc catcaaggcc aactctatgg aactcactgc agggagcgtg
      961 gacacgacgg tgtttccctt gctgatgacg ctctttgagc tggctcggaa ccccaacgtg
     1021 cagcaggccc tgcgccagga gagcctggcc gccgcagcca gcatcagtga acatccccag
     1081 aaggcaacca ccgagctgcc cttgctgcgt gcggccctca aggagacctt gcggctctac
     1141 cctgtgggtc tgtttctgga gcgagtggcg agctcagact tggtgcttca gaactaccac
     1201 atcccagctg ggacattggt gcgcgtgttc ctctactctc tgggtcgcaa ccccgccttg
     1261 ttcccgaggc ctgagcgcta taacccccag cgctggctag acatcagggg ctccggcagg
     1321 aacttctacc acgtgccctt tggctttggc atgcgccagt gccttgggcg gcgcctggca
     1381 gaggcagaga tgctgctgct gctgcaccat gtgctgaaac acctccaggt ggagacacta
     1441 acccaagagg acataaagat ggtctacagc ttcatattga ggcccagcat gttccccctc
     1501 ctcaccttca gagccatcaa ctaatcacgt ctctgcaccc agggtcccag cctggccacc
     1561 agcctccctt tctgcctgac cccaggccac ccctcttctc tcccacatgc acagcttcct
     1621 gagtcacccc tctgtctaac cagccccagc acaaatggaa ctcccgaggg cctctaggac
     1681 cagggtttgc caggctaagc agcaatgcca gggcacagct ggggaagatc ttgctgacct
     1741 tgtccccagc cccacctggc cctttctcca gcaagcactg tcctctgggc agtttgcccc
     1801 catccctccc agtgctggct ccaggctcct cgtgtggcca tacaagggtg ctgtggtttt
     1861 gtcccttgcc ttcctgccta gtctcacatg tccctgttcc tcttcccctg gccagggccc
     1921 ctgcgcagac tgtcagagtc attaagcggg atcccagcat ctcagagtcc agtcaagttc
     1981 cctcctgcag cctgacccct aggcagctcg agcatgccct gagctctctg aaagttgtca
     2041 ccctggaata gggtcctgca gggtagaata aaaaggcccc tgtggtcact tgtcctgaca
     2101 tccccatttt caagtgatac aactgagtct cgagggacgt gtgttcccca gctgatcgtg
     2161 tcagcctcat gccccaggcc tcatctttca tggaccaggc cttgttccag gagtgggtgt
     2221 tgggtcctct gcttcctgtg ctgtcccctg gggaaggtcc cgaggatgct gtcaggagat
     2281 ggaagagtca tgtggggtgg gaacctgggg tgtggttcca gaaatgtttt tggcaacagg
     2341 agagacagga ttgggccaac aaggactcag acgagtttta ttgactcatt tctctggttg
     2401 atacggagcc atgtcatgtg ccacgacctg gggtgggcac agggaggctg cagtttcctg
     2461 cgtgaacctg ccttgggcct catctgctcc tagcccagca gagagagttg acccctcctg
     2521 aactggccac tccccagtgc tcccgtgcag ggagaggaag cacccagttt gagagtgtac
     2581 ccagccagac tgtctttatc tccatggatt ttcatcaggg caaagatcac agcagccagc
     2641 tcctggtggc tgatgaggat cagagcattt gttcccccat gaaaggggaa atccctatgg
     2701 catcattcca gtggtggtca gtagatccag gacgccctgc aggactcagc ctgtacaggg
     2761 agatgaagtg ccccaggttg ggagcacacc tagctagagt tatttgtgtt aatctattca
     2821 ggatgctcta agaaaacgcc atagactggg ttgctgacaa acatcagaat tctatttctc
     2881 atggttctga aggcttagaa ggctaagatc aaggtgtcag caggttctgt gtctggtgag
     2941 gacccacctc ttgtttcata gataaaacct tcttgctgtg tcctcacatg gtggaaaagg
     3001 gcaagacagc tcacagagac ctcttttata aggacgccag ttccattcaa gagggcactg
     3061 cctgcattcc cttcccccct caaaggcccg gccctgctat tatcgtcacc ttggtgacta
     3121 gatttcagcc tatgaattct ggaggcggac acaaaaattc agattaaact actctgcttc
     3181 tgtttctcta aaatctacat ccttctcata tacaaaatac atgcatttct ccccagtagc
     3241 cccaaatatc aactcatttt agcatcaact ttaaaattgt agtccaaagt gtgatttaaa
     3301 tgttatctga gtcaaacatg ggtaagactc aaggtacaat ttatcctgag tccaactgtt
     3361 cttgctgcga acctatgaaa tcaaacatgt tatgtgcttc caaaatacag tggttggaga
     3421 ggcataggat aaacattccc attccagaaa ggagaaacag gaaagaagaa aggagtaaca
     3481 agtttcaagc aactccaaaa ttgaatgtga caaacagtat taaaccttaa gcctcaagaa
//
LOCUS       NM_000498               2936 bp    mRNA    linear   PRI 03-JUL-2023
DEFINITION  Homo sapiens cytochrome P450 family 11 subfamily B member 2
            (CYP11B2), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000498
VERSION     NM_000498.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2936)
  AUTHORS   Shah WA, Jan A, Khan MA, Saeed M, Rahman N, Zakiullah, Afridi MS,
            Khuda F and Akbar R.
  TITLE     Association between Aldosterone Synthase (CYP11B2) Gene Polymorphism
            and Hypertension in Pashtun Ethnic Population of Khyber Pakhtunkwha,
            Pakistan
  JOURNAL   Genes (Basel) 14 (6), 1184 (2023)
   PUBMED   37372364
  REMARK    GeneRIF: Association between Aldosterone Synthase (CYP11B2) Gene
            Polymorphism and Hypertension in Pashtun Ethnic Population of Khyber
            Pakhtunkwha, Pakistan. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2936)
  AUTHORS   Gao Y, Ding J, Cui Y, Li T, Sun H, Zhao D, Zhang Y, Huo L and Tong
            A.
  TITLE     Functional nodules in primary aldosteronism: identification of CXCR4
            expression with 68Ga-pentixafor PET/CT
  JOURNAL   Eur Radiol 33 (2), 996-1003 (2023)
   PUBMED   36070092
  REMARK    GeneRIF: Functional nodules in primary aldosteronism: identification
            of CXCR4 expression with [68]Ga-pentixafor PET/CT.
REFERENCE   3  (bases 1 to 2936)
  AUTHORS   van de Wiel E, Chaman Baz AH, Kusters B, Mukai K, van Bonzel L, van
            Erp M, Deinum J and Langenhuijsen J.
  TITLE     Changes of the CYP11B2 Expressing Zona Glomerulosa in Human Adrenals
            From Birth to 40 Years of Age
  JOURNAL   Hypertension 79 (11), 2565-2572 (2022)
   PUBMED   36036158
  REMARK    GeneRIF: Changes of the CYP11B2 Expressing Zona Glomerulosa in Human
            Adrenals From Birth to 40 Years of Age.
REFERENCE   4  (bases 1 to 2936)
  AUTHORS   Zhang X, Wang Y, Zheng Y, Yuan J, Tong J, Xu J, Li Q, Li P, Jiang S,
            Wang Z, Chai F and Li X.
  TITLE     Effect of ACE, ACE2 and CYP11B2 gene polymorphisms and noise on
            essential hypertension among steelworkers in China: a case-control
            study
  JOURNAL   BMC Med Genomics 15 (1), 22 (2022)
   PUBMED   35130889
  REMARK    GeneRIF: Effect of ACE, ACE2 and CYP11B2 gene polymorphisms and
            noise on essential hypertension among steelworkers in China: a
            case-control study. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2936)
  AUTHORS   Wu YC, Chen CI, Chen PY, Kuo CH, Hung YH, Peng KY, Wu VC, Tsai-Wu JJ
            and Hsu CL.
  CONSRTM   TAIPAI group
  TITLE     GRAde: a long-read sequencing approach to efficiently identifying
            the CYP11B1/CYP11B2 chimeric form in patients with
            glucocorticoid-remediable aldosteronism
  JOURNAL   BMC Bioinformatics 22 (Suppl 10), 613 (2022)
   PUBMED   35012455
  REMARK    GeneRIF: GRAde: a long-read sequencing approach to efficiently
            identifying the CYP11B1/CYP11B2 chimeric form in patients with
            glucocorticoid-remediable aldosteronism. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 2936)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 2936)
  AUTHORS   Pascoe L, Curnow KM, Slutsker L, Connell JM, Speiser PW, New MI and
            White PC.
  TITLE     Glucocorticoid-suppressible hyperaldosteronism results from hybrid
            genes created by unequal crossovers between CYP11B1 and CYP11B2
  JOURNAL   Proc Natl Acad Sci U S A 89 (17), 8327-8331 (1992)
   PUBMED   1518866
REFERENCE   8  (bases 1 to 2936)
  AUTHORS   Pascoe L, Curnow KM, Slutsker L, Rosler A and White PC.
  TITLE     Mutations in the human CYP11B2 (aldosterone synthase) gene causing
            corticosterone methyloxidase II deficiency
  JOURNAL   Proc Natl Acad Sci U S A 89 (11), 4996-5000 (1992)
   PUBMED   1594605
REFERENCE   9  (bases 1 to 2936)
  AUTHORS   Kawamoto T, Mitsuuchi Y, Toda K, Yokoyama Y, Miyahara K, Miura S,
            Ohnishi T, Ichikawa Y, Nakao K, Imura H et al.
  TITLE     Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in
            the biosynthesis of glucocorticoids and mineralocorticoids in humans
  JOURNAL   Proc Natl Acad Sci U S A 89 (4), 1458-1462 (1992)
   PUBMED   1741400
REFERENCE   10  (bases 1 to 2936)
  AUTHORS   Mitsuuchi Y, Kawamoto T, Naiki Y, Miyahara K, Toda K, Kuribayashi I,
            Orii T, Yasuda K, Miura K, Nakao K et al.
  TITLE     Congenitally defective aldosterone biosynthesis in humans: the
            involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO
            II deficient patients
  JOURNAL   Biochem Biophys Res Commun 182 (2), 974-979 (1992)
   PUBMED   1346492
  REMARK    Erratum:[Biochem Biophys Res Commun 1992 May 15;184(3):1529-30]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination        :: X54741.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000323110.2/ ENSP00000325822.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X54741.1 and AC073385.14.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 21, 2006 this sequence version replaced NM_000498.2.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the mitochondrial inner membrane. The
            enzyme has steroid 18-hydroxylase activity to synthesize
            aldosterone and 18-oxocortisol as well as steroid 11
            beta-hydroxylase activity. Mutations in this gene cause
            corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..2936
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
                     /note="cytochrome P450 family 11 subfamily B member 2"
                     /db_xref="GeneID:1585"
                     /db_xref="HGNC:HGNC:2592"
                     /db_xref="MIM:124080"
     CDS             4..1515
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
                     /EC_number="1.14.15.4"
                     /EC_number="1.14.15.5"
                     /note="steroid 11-beta-monooxygenase; steroid
                     11-beta/18-hydroxylase; aldosterone synthase; cytochrome
                     P450, subfamily XIB (steroid 11-beta-hydroxylase),
                     polypeptide 2; cytochrome P450 11B2, mitochondrial;
                     mitochondrial cytochrome P450, family 11, subfamily B,
                     polypeptide 2; steroid 18-hydroxylase, aldosterone
                     synthase, P450C18, P450aldo; cytochrome P-450C18;
                     cytochrome P-450Aldo; aldosterone-synthesizing enzyme;
                     steroid 11-beta-hydroxylase, CYP11B2; corticosterone
                     18-monooxygenase, CYP11B2"
                     /codon_start=1
                     /product="cytochrome P450 11B2, mitochondrial precursor"
                     /protein_id="NP_000489.3"
                     /db_xref="CCDS:CCDS6393.1"
                     /db_xref="GeneID:1585"
                     /db_xref="HGNC:HGNC:2592"
                     /db_xref="MIM:124080"
                     /translation="MALRAKAEVCVAAPWLSLQRARALGTRAARAPRTVLPFEAMPQHP
                     GNRWLRLLQIWREQGYEHLHLEMHQTFQELGPIFRYNLGGPRMVCVMLPEDVEKLQQVD
                     SLHPCRMILEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPDVLSPKAVQRFLPMVDA
                     VARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLN
                     FLHALEVMFKSTVQLMFMPRSLSRWISPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFN
                     RPQHYTGIVAELLLKAELSLEAIKANSMELTAGSVDTTAFPLLMTLFELARNPDVQQIL
                     RQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVVSSDLVLQNYHIPA
                     GTLVQVFLYSLGRNAALFPRPERYNPQRWLDIRGSGRNFHHVPFGFGMRQCLGRRLAEA
                     EMLLLLHHVLKHFLVETLTQEDIKMVYSFILRPGTSPLLTFRAIN"
     transit_peptide 4..75
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
     mat_peptide     76..1512
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
                     /product="cytochrome P450 11B2, mitochondrial"
     misc_feature    1351..1353
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
                     /note="heme binding site"
     regulatory      2919..2924
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
     polyA_site      2936
                     /gene="CYP11B2"
                     /gene_synonym="ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2;
                     P-450C18; P450aldo; P450C18"
ORIGIN
        1 ggaatggcac tcagggcaaa ggcagaggtg tgcgtggcag cgccctggct gtccctgcaa
       61 agggcacggg cactgggcac tagagccgct cgggccccta ggacggtgct gccgtttgaa
      121 gccatgcccc agcatccagg caacaggtgg ctgaggctgc tgcagatctg gagggagcag
      181 ggttatgagc acctgcacct ggagatgcac cagaccttcc aggagctggg gcccattttc
      241 aggtacaact tgggaggacc acgcatggtg tgtgtgatgc tgccggagga tgtggagaag
      301 ctgcaacagg tggacagcct gcatccctgc aggatgatcc tggagccctg ggtggcctac
      361 agacaacatc gtgggcacaa atgtggcgtg ttcttgttga atgggcctga atggcgcttc
      421 aaccgattgc ggctgaaccc agatgtgctg tcgcccaagg ccgtgcagag gttcctcccg
      481 atggtggatg cagtggccag ggacttctcc caggccctga agaagaaggt gctgcagaac
      541 gcccggggga gcctgaccct ggacgtccag cccagcatct tccactacac catagaagcc
      601 agcaacttag ctctttttgg agagcggctg ggcctggttg gccacagccc cagttctgcc
      661 agcctgaact tcctccatgc cctggaggtc atgttcaaat ccaccgtcca gctcatgttc
      721 atgcccagga gcctgtctcg ctggatcagc cccaaggtgt ggaaggagca ctttgaggcc
      781 tgggactgca tcttccagta cggtgacaac tgtatccaga aaatctacca ggaactggcc
      841 ttcaaccgcc ctcaacacta cacaggcatc gtggcggagc tcctgttgaa ggcggaactg
      901 tcactagaag ccatcaaggc caactctatg gaactcactg cagggagcgt ggacacgaca
      961 gcgtttccct tgctgatgac gctctttgag ctggctcgga accccgacgt gcagcagatc
     1021 ctgcgccagg agagcctggc cgccgcagcc agcatcagtg aacatcccca gaaggcaacc
     1081 accgagctgc ccttgctgcg ggcggccctc aaggagacct tgcggctcta ccctgtgggt
     1141 ctgtttttgg agcgagtggt gagctcagac ttggtgcttc agaactacca catcccagct
     1201 gggacattgg tacaggtttt cctctactcg ctgggtcgca atgccgcctt gttcccgagg
     1261 cctgagcggt ataatcccca gcgctggcta gacatcaggg gctccggcag gaacttccac
     1321 cacgtgccct ttggctttgg catgcgccag tgcctcgggc ggcgcctggc agaggcagag
     1381 atgctgctgc tgctgcacca cgtgctgaag cacttcctgg tggagacact aactcaagag
     1441 gacataaaga tggtctacag cttcatattg aggcctggca cgtcccccct cctcactttc
     1501 agagcgatta actagtcttg catctgcacc cagggtccca gcctggccac cagcttccct
     1561 ctgcctgacc ccaggccacc tgtcttctct cccacgtgca cagcttcctg agtcacccct
     1621 ctgtccagcc agctcctgca caaatggaac tccccagggc ctccaggact ggggcttgcc
     1681 aggcttgtca aatagcaagg ccagggcaca gctggagacg atcttgctgg cagggcctgg
     1741 ccttgtcccc agctccacct ggccccttct ccagcaagca gtgccctctg gacagcttga
     1801 ctctactccc agcgctggct ccaggctcct catgaggcca tgcaagggtg ctgtgatttt
     1861 gtcccttgcc ttcctgccta gtctcacatg tccctgtccc tctcgccctg gccagggcct
     1921 ctgtgcagac agtgtcagag tcattaagcg ggatcccagc atctcagagt ccagtcaagt
     1981 tccctcctgc agcctgaccc caggcagctc gagcatgccc tgagctctct gaaagttgtc
     2041 accctggaat acgatcctgc agggtagact aaaaaggccc ctgtggtcac ttatcctgac
     2101 acattttcaa gtgatacaac tgagtctcga ggggcgtgtg ttccccagct gatcatgtca
     2161 gcctcatgcc ccaggcctcg tctttcatgg accaggtctt gttcaagcag cgagtgttgg
     2221 gtcctctgct tcctgagctg tcccctggag aaggtcccga ggatgctgtc aggagatgga
     2281 agagtcatgt ggggtgggaa cctggggtgt ggttccagaa atgtttttgg caacaggaga
     2341 gacaggattg ggccaacaag gactcagatg agttttattg actcattcct ctggttgata
     2401 cggagccatg tcatgtgcca cgacctgggg tgggcacagg gaggctgcag ttccctacgt
     2461 gaacctgcct tgggcctcat ctgctcctag cccagcagag agagttgacc cctcctgaac
     2521 tggccactcc ccagtgctcc tgtgcaggga taggaagtgc cccagggtga gaacgtgccc
     2581 agccacatca tctttatctc ctgggatttt cattagggca aagatctcag cagccagctc
     2641 ctggtagctg atgaggatca gagcgtttgt tcccccatga aaggggaaat acttaggtaa
     2701 tcattccagg tgtgttcagt agttccagga ctcagggact caggccagtc accctgtgac
     2761 cgcaggttgc tttcccaccc tgggcaatgc agtgcagcat gggaaaggaa taagggggca
     2821 acaaggtgca cagacctcag agatggcttc cttgtttatg gggctctcac agatacccat
     2881 ccaactcctc tagtcagcac tagatcatgg gatcctaaaa taaaccttgg aaaaat
//
LOCUS       NM_000500               2006 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens cytochrome P450 family 21 subfamily A member 2
            (CYP21A2), transcript variant 1, mRNA.
ACCESSION   NM_000500
VERSION     NM_000500.9
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2006)
  AUTHORS   Lundtoft C, Eriksson D, Bianchi M, Aranda-Guillen M, Landegren N,
            Rantapaa-Dahlqvist S, Soderkvist P, Meadows JRS, Bensing S, Pielberg
            GR, Lindblad-Toh K, Ronnblom L and Kampe O.
  CONSRTM   DISSECT Consortium; ImmunoArray Consortium; Swedish Addison Registry
            Study Group
  TITLE     Relation between HLA and copy number variation of steroid
            21-hydroxylase in a Swedish cohort of patients with autoimmune
            Addison's disease
  JOURNAL   Eur J Endocrinol 189 (2), 235-241 (2023)
   PUBMED   37553728
  REMARK    GeneRIF: Relation between HLA and copy number variation of steroid
            21-hydroxylase in a Swedish cohort of patients with autoimmune
            Addison's disease.
REFERENCE   2  (bases 1 to 2006)
  AUTHORS   Fanis P, Skordis N, Toumba M, Picolos M, Tanteles GA, Neocleous V
            and Phylactou LA.
  TITLE     The pathogenic p.Gln319Ter variant is not causing congenital adrenal
            hyperplasia when inherited in one of the duplicated CYP21A2 genes
  JOURNAL   Front Endocrinol (Lausanne) 14, 1156616 (2023)
   PUBMED   37324257
  REMARK    GeneRIF: The pathogenic p.Gln319Ter variant is not causing
            congenital adrenal hyperplasia when inherited in one of the
            duplicated CYP21A2 genes. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2006)
  AUTHORS   Ivo CR, Fitas AL, Madureira I, Diamantino C, Gomes S, Goncalves J
            and Lopes L.
  TITLE     Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping
            the tenascin-X gene: an atypical presentation
  JOURNAL   J Pediatr Endocrinol Metab 36 (1), 81-85 (2022)
   PUBMED   36259452
  REMARK    GeneRIF: Congenital adrenal hyperplasia with a CYP21A2 deletion
            overlapping the tenascin-X gene: an atypical presentation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2006)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   5  (bases 1 to 2006)
  AUTHORS   Nimkarn,S., Gangishetti,P.K., Yau,M. and New,M.I.
  TITLE     21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301350
REFERENCE   6  (bases 1 to 2006)
  AUTHORS   Owerbach D, Sherman L, Ballard AL and Azziz R.
  TITLE     Pro-453 to Ser mutation in CYP21 is associated with nonclassic
            steroid 21-hydroxylase deficiency
  JOURNAL   Mol Endocrinol 6 (8), 1211-1215 (1992)
   PUBMED   1406699
REFERENCE   7  (bases 1 to 2006)
  AUTHORS   Winqvist O, Karlsson FA and Kampe O.
  TITLE     21-Hydroxylase, a major autoantigen in idiopathic Addison's disease
  JOURNAL   Lancet 339 (8809), 1559-1562 (1992)
   PUBMED   1351548
REFERENCE   8  (bases 1 to 2006)
  AUTHORS   Aston CE, Sherman SL, Morton NE, Speiser PW and New MI.
  TITLE     Genetic mapping of the 21-hydroxylase locus: estimation of small
            recombination frequencies
  JOURNAL   Am J Hum Genet 43 (3), 304-310 (1988)
   PUBMED   3137812
REFERENCE   9  (bases 1 to 2006)
  AUTHORS   Harada F, Kimura A, Iwanaga T, Shimozawa K, Yata J and Sasazuki T.
  TITLE     Gene conversion-like events cause steroid 21-hydroxylase deficiency
            in congenital adrenal hyperplasia
  JOURNAL   Proc Natl Acad Sci U S A 84 (22), 8091-8094 (1987)
   PUBMED   3500473
REFERENCE   10  (bases 1 to 2006)
  AUTHORS   Higashi,Y., Yoshioka,H., Yamane,M., Gotoh,O. and Fujii-Kuriyama,Y.
  TITLE     Complete nucleotide sequence of two steroid 21-hydroxylase genes
            tandemly arranged in human chromosome: a pseudogene and a genuine
            gene
  JOURNAL   Proc Natl Acad Sci U S A 83 (9), 2841-2845 (1986)
   PUBMED   3486422
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC125182.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145544,
            SAMEA2146411 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000644719.2/ ENSP00000496625.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AV708092.1, DA008890.1,
            BC125181.1, AL645922.12, M17252.1 and AI479704.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 24, 2018 this sequence version replaced NM_000500.8.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum and
            hydroxylates steroids at the 21 position. Its activity is required
            for the synthesis of steroid hormones including cortisol and
            aldosterone. Mutations in this gene cause congenital adrenal
            hyperplasia. A related pseudogene is located near this gene; gene
            conversion events involving the functional gene and the pseudogene
            are thought to account for many cases of steroid 21-hydroxylase
            deficiency. Two transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2006
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..2006
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /note="cytochrome P450 family 21 subfamily A member 2"
                     /db_xref="GeneID:1589"
                     /db_xref="HGNC:HGNC:2600"
                     /db_xref="MIM:613815"
     CDS             9..1496
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /EC_number="1.14.14.16"
                     /note="isoform a is encoded by transcript variant 1;
                     steroid 21-monooxygenase; cytochrome P450, subfamily XXIA
                     (steroid 21-hydroxylase, congenital adrenal hyperplasia),
                     polypeptide 2; cytochrome P450, family 21, subfamily A,
                     polypeptide 2; 21-OHase; cytochrome P450 XXI; cytochrome
                     P450-C21B; steroid 21 hydroxylase"
                     /codon_start=1
                     /product="steroid 21-hydroxylase isoform a"
                     /protein_id="NP_000491.4"
                     /db_xref="CCDS:CCDS4735.1"
                     /db_xref="GeneID:1589"
                     /db_xref="HGNC:HGNC:2600"
                     /db_xref="MIM:613815"
                     /translation="MLLLGLLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDL
                     PIYLLGLTQKFGPIYRLHLGLQDVVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLVSRN
                     YPDLSLGDYSLLWKAHKKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVAIEE
                     EFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNP
                     GLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGH
                     VHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDR
                     ARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVW
                     ERPHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDA
                     LPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQSQ"
     regulatory      1982..1987
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /note="hexamer: AATAAA"
     polyA_site      2004
                     /gene="CYP21A2"
                     /gene_synonym="CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B"
                     /note="major polyA site"
ORIGIN
        1 gtctcgccat gctgctcctg ggcctgctgc tgctgctgcc cctgctggct ggcgcccgcc
       61 tgctgtggaa ctggtggaag ctccggagcc tccacctccc gcctcttgcc ccgggcttct
      121 tgcacctgct gcagcccgac ctccccatct atctgcttgg cctgactcag aaattcgggc
      181 ccatctacag gctccacctt gggctgcaag atgtggtggt gctgaactcc aagaggacca
      241 ttgaggaagc catggtcaaa aagtgggcag actttgctgg cagacctgag ccacttacct
      301 acaagctggt gtctaggaac tacccggacc tgtccttggg agactactcc ctgctctgga
      361 aagcccacaa gaagctcacc cgctcagccc tgctgctggg catccgtgac tccatggagc
      421 cagtggtgga gcagctgacc caggagttct gtgagcgcat gagagcccag cccggcaccc
      481 ctgtggccat tgaggaggaa ttctctctcc tcacctgcag catcatctgt tacctcacct
      541 tcggagacaa gatcaaggac gacaacttaa tgcctgccta ttacaaatgt atccaggagg
      601 tgttaaaaac ctggagccac tggtccatcc aaattgtgga cgtgattccc tttctcaggt
      661 tcttccccaa tccaggtctc cggaggctga agcaggccat agagaagagg gatcacatcg
      721 tggagatgca gctgaggcag cacaaggaga gcctcgtggc aggccagtgg agggacatga
      781 tggactacat gctccaaggg gtggcgcagc cgagcatgga agagggctct ggacagctcc
      841 tggaagggca cgtgcacatg gctgcagtgg acctcctgat cggtggcact gagaccacag
      901 caaacaccct ctcctgggcc gtggtttttt tgcttcacca ccctgagatt cagcagcgac
      961 tgcaggagga gctagaccac gaactgggcc ctggtgcctc cagctcccgg gtcccctaca
     1021 aggaccgtgc acggctgccc ttgctcaatg ccaccatcgc cgaggtgctg cgcctgcggc
     1081 ccgttgtgcc cttagccttg ccccaccgca ccacacggcc cagcagcatc tccggctacg
     1141 acatccctga gggcacagtc atcattccga acctccaagg cgcccacctg gatgagacgg
     1201 tctgggagag gccacatgag ttctggcctg atcgcttcct ggagccaggc aagaactcca
     1261 gagctctggc cttcggctgc ggtgcccgcg tgtgcctggg cgagccgctg gcgcgcctgg
     1321 agctcttcgt ggtgctgacc cgactgctgc aggccttcac gctgctgccc tccggggacg
     1381 ccctgccctc cctgcagccc ctgccccact gcagtgtcat cctcaagatg cagcctttcc
     1441 aagtgcggct gcagccccgg gggatggggg cccacagccc gggccagagc cagtgatggg
     1501 gcaggaccga tgccagccgg gtacctcagt ttctccttta ttgctcccgt acgaacccct
     1561 cccctccccc ctgtaaacac agtgctgcga gatcgctggc agagaaggct tcctccagcg
     1621 gctgggtggt gaaggaccct ggctcttctc tcggggcgac ccctcagtgc tcggcagtca
     1681 tactggggtg cgagagaggt gggcagcagc tcagcctccc cccgctgggg agcgaaagtt
     1741 tcttggtctc agcttcattt ccgtgaaggg caccgagaac tcgaagccct tccagtggta
     1801 ccagctcact ccctgggaaa ggggttgtca agagagagtc aaagccggat gtcccatctg
     1861 ctcttcccgt tccccttaag gaggtagctc ccagcactca accaacctcc ccgcagagct
     1921 cccttcctga ccctccgctg cagaggattg aggcttaatt ctgagctggc cctttccagc
     1981 caataaatca actccagctc cctctg
//
LOCUS       NM_000501               3397 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens elastin (ELN), transcript variant 1, mRNA.
ACCESSION   NM_000501
VERSION     NM_000501.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3397)
  AUTHORS   Wang Q, Li S, Wang H and Zhang M.
  TITLE     Configuration of elastin fibers in the intra- and extra-capsule
            ligaments of the elderly cricoarytenoid joint
  JOURNAL   Eur Arch Otorhinolaryngol 280 (9), 4149-4153 (2023)
   PUBMED   37208491
  REMARK    GeneRIF: Configuration of elastin fibers in the intra- and
            extra-capsule ligaments of the elderly cricoarytenoid joint.
REFERENCE   2  (bases 1 to 3397)
  AUTHORS   Kucherenko MM, Sang P, Yao J, Gransar T, Dhital S, Grune J, Simmons
            S, Michalick L, Wulsten D, Thiele M, Shomroni O, Hennig F, Yeter R,
            Solowjowa N, Salinas G, Duda GN, Falk V, Vyavahare NR, Kuebler WM
            and Knosalla C.
  TITLE     Elastin stabilization prevents impaired biomechanics in human
            pulmonary arteries and pulmonary hypertension in rats with left
            heart disease
  JOURNAL   Nat Commun 14 (1), 4416 (2023)
   PUBMED   37479718
  REMARK    GeneRIF: Elastin stabilization prevents impaired biomechanics in
            human pulmonary arteries and pulmonary hypertension in rats with
            left heart disease. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3397)
  AUTHORS   Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M and
            Read AP.
  TITLE     Elastin: genomic structure and point mutations in patients with
            supravalvular aortic stenosis
  JOURNAL   Hum Mol Genet 6 (7), 1029-1036 (1997)
   PUBMED   9215671
REFERENCE   4  (bases 1 to 3397)
  AUTHORS   Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF and Keating
            MT.
  TITLE     The elastin gene is disrupted by a translocation associated with
            supravalvular aortic stenosis
  JOURNAL   Cell 73 (1), 159-168 (1993)
   PUBMED   8096434
REFERENCE   5  (bases 1 to 3397)
  AUTHORS   Callewaert,B.L. and Urban,Z.
  TITLE     ELN-Related Cutis Laxa
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   36173875
REFERENCE   6  (bases 1 to 3397)
  AUTHORS   Morris,C.A.
  TITLE     Williams Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301427
REFERENCE   7  (bases 1 to 3397)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301299
REFERENCE   8  (bases 1 to 3397)
  AUTHORS   Wakui H, Komatsuda A, Itoh H, Kobayashi R, Nakamoto Y and Miura AB.
  TITLE     Renal argininosuccinate synthetase: purification,
            immunohistochemical localization, and elastin-binding property
  JOURNAL   Ren Physiol Biochem 15 (1), 1-9 (1992)
   PUBMED   1372742
REFERENCE   9  (bases 1 to 3397)
  AUTHORS   Fazio MJ, Olsen DR, Kauh EA, Baldwin CT, Indik Z, Ornstein-Goldstein
            N, Yeh H, Rosenbloom J and Uitto J.
  TITLE     Cloning of full-length elastin cDNAs from a human skin fibroblast
            recombinant cDNA library: further elucidation of alternative
            splicing utilizing exon-specific oligonucleotides
  JOURNAL   J Invest Dermatol 91 (5), 458-464 (1988)
   PUBMED   3171221
REFERENCE   10  (bases 1 to 3397)
  AUTHORS   Indik,Z., Yoon,K., Morrow,S.D., Cicila,G., Rosenbloom,J.,
            Rosenbloom,J. and Ornstein-Goldstein,N.
  TITLE     Structure of the 3' region of the human elastin gene: great
            abundance of Alu repetitive sequences and few coding sequences
  JOURNAL   Connect Tissue Res 16 (3), 197-211 (1987)
   PUBMED   3038460
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC035570.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000252034.12/ ENSP00000252034.7
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005056.2, BC035570.1 and
            AA600350.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000501.3.
            Summary: This gene encodes a protein that is one of the two
            components of elastic fibers. Elastic fibers comprise part of the
            extracellular matrix and confer elasticity to organs and tissues
            including the heart, skin, lungs, ligaments, and blood vessels. The
            encoded protein is rich in hydrophobic amino acids such as glycine
            and proline, which form mobile hydrophobic regions bounded by
            crosslinks between lysine residues. Degradation products of the
            encoded protein, known as elastin-derived peptides or elastokines,
            bind the elastin receptor complex and other receptors and stimulate
            migration and proliferation of monocytes and skin fibroblasts.
            Elastokines can also contribute to cancer progression. Deletions
            and mutations in this gene are associated with supravalvular aortic
            stenosis (SVAS) and autosomal dominant cutis laxa. [provided by
            RefSeq, Aug 2017].
            Transcript Variant: This variant (1) encodes isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3397
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..3397
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="elastin"
                     /db_xref="GeneID:2006"
                     /db_xref="HGNC:HGNC:3327"
                     /db_xref="MIM:130160"
     CDS             16..2190
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="isoform a precursor is encoded by transcript variant
                     1; tropoelastin"
                     /codon_start=1
                     /product="elastin isoform a precursor"
                     /protein_id="NP_000492.2"
                     /db_xref="CCDS:CCDS5562.2"
                     /db_xref="GeneID:2006"
                     /db_xref="HGNC:HGNC:3327"
                     /db_xref="MIM:130160"
                     /translation="MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPG
                     AGLGALGGGALGPGGKPLKPVPGGLAGAGLGAGLGAFPAVTFPGALVPGGVADAAAAYK
                     AAKAGAGLGGVPGVGGLGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARFPGV
                     GVLPGVPTGAGVKPKAPGVGGAFAGIPGVGPFGGPQPGVPLGYPIKAPKLPGGYGLPYT
                     TGKLPYGYGPGGVAGAAGKAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGAG
                     VPGVPGAIPGIGGIAGVGTPAAAAAAAAAAKAAKYGAAAGLVPGGPGFGPGVVGVPGAG
                     VPGVGVPGAGIPVVPGAGIPGAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGV
                     GAGGFPGFGVGVGGIPGVAGVPGVGGVPGVGGVPGVGISPEAQAAAAAKAAKYGVGTPA
                     AAAAKAAAKAAQFGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVGVAPGVGVAP
                     GIGPGGVAAAAKSAAKVAAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGAGVPGLGVGAG
                     VPGFGAVPGALAAAKAAKYGAAVPGVLGGLGALGGVGIPGGVVGAGPAAAAAAAKAAAK
                     AAQFGLVGAAGLGGLGVGGLGVPGVGGLGGIPPAAAAKAAKYGAAGLGGVLGGAGQFPL
                     GGVAARPGFGLSPIFPGGACLGKACGRKRK"
     sig_peptide     16..93
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    115..117
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    208..210
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    214..216
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    277..279
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    361..363
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    481..483
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    514..516
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    523..525
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    544..546
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    583..585
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697,
                     ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    862..864
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    871..873
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697,
                     ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    883..885
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16078697; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    994..996
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    1039..1041
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    1054..1056
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    1069..1071
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    1078..1080
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="Hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     misc_feature    1093..1095
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="4-hydroxyproline, partial.
                     /evidence=ECO:0000269|PubMed:16161116; propagated from
                     UniProtKB/Swiss-Prot (P15502.4); hydroxylation site"
     regulatory      3142..3147
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="hexamer: AATAAA"
     polyA_site      3168
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="major polyA site"
     regulatory      3376..3381
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="hexamer: AATGAA"
     polyA_site      3397
                     /gene="ELN"
                     /gene_synonym="ADCL1; SVAS; WBS; WS"
                     /note="major polyA site"
ORIGIN
        1 gcatttctcc ccgagatggc gggtctgacg gcggcggccc cgcggcccgg agtcctcctg
       61 ctcctgctgt ccatcctcca cccctctcgg cctggagggg tccctggggc cattcctggt
      121 ggagttcctg gaggagtctt ttatccaggg gctggtctcg gagcccttgg aggaggagcg
      181 ctggggcctg gaggcaaacc tcttaagcca gttcccggag ggcttgcggg tgctggcctt
      241 ggggcagggc tcggcgcctt ccccgcagtt acctttccgg gggctctggt gcctggtgga
      301 gtggctgacg ctgctgcagc ctataaagct gctaaggctg gcgctgggct tggtggtgtc
      361 ccaggagttg gtggcttagg agtgtctgca ggtgcggtgg ttcctcagcc tggagccgga
      421 gtgaagcctg ggaaagtgcc gggtgtgggg ctgccaggtg tatacccagg tggcgtgctc
      481 ccaggagctc ggttccccgg tgtgggggtg ctccctggag ttcccactgg agcaggagtt
      541 aagcccaagg ctccaggtgt aggtggagct tttgctggaa tcccaggagt tggacccttt
      601 gggggaccgc aacctggagt cccactgggg tatcccatca aggcccccaa gctgcctggt
      661 ggctatggac tgccctacac cacagggaaa ctgccctatg gctatgggcc cggaggagtg
      721 gctggtgcag cgggcaaggc tggttaccca acagggacag gggttggccc ccaggcagca
      781 gcagcagcgg cagctaaagc agcagcaaag ttcggtgctg gagcagccgg agtcctccct
      841 ggtgttggag gggctggtgt tcctggcgtg cctggggcaa ttcctggaat tggaggcatc
      901 gcaggcgttg ggactccagc tgcagctgca gctgcagcag cagccgctaa ggcagccaag
      961 tatggagctg ctgcaggctt agtgcctggt gggccaggct ttggcccggg agtagttggt
     1021 gtcccaggag ctggcgttcc aggtgttggt gtcccaggag ctgggattcc agttgtccca
     1081 ggtgctggga tcccaggtgc tgcggttcca ggggttgtgt caccagaagc agctgctaag
     1141 gcagctgcaa aggcagccaa atacggggcc aggcccggag tcggagttgg aggcattcct
     1201 acttacgggg ttggagctgg gggctttccc ggctttggtg tcggagtcgg aggtatccct
     1261 ggagtcgcag gtgtccctgg tgtcggaggt gttcccggag tcggaggtgt cccgggagtt
     1321 ggcatttccc ccgaagctca ggcagcagct gccgccaagg ctgccaagta cggagtgggg
     1381 accccagcag ctgcagctgc taaagcagcc gccaaagccg cccagtttgg gttagttcct
     1441 ggtgtcggcg tggctcctgg agttggcgtg gctcctggtg tcggtgtggc tcctggagtt
     1501 ggcttggctc ctggagttgg cgtggctcct ggagttggtg tggctcctgg cgttggcgtg
     1561 gctcccggca ttggccctgg tggagttgca gctgcagcaa aatccgctgc caaggtggct
     1621 gccaaagccc agctccgagc tgcagctggg cttggtgctg gcatccctgg acttggagtt
     1681 ggtgtcggcg tccctggact tggagttggt gctggtgttc ctggacttgg agttggtgct
     1741 ggtgttcctg gcttcggggc agtacctgga gccctggctg ccgctaaagc agccaaatat
     1801 ggagcagcag tgcctggggt ccttggaggg ctcggggctc tcggtggagt aggcatccca
     1861 ggcggtgtgg tgggagccgg acccgccgcc gccgctgccg cagccaaagc tgctgccaaa
     1921 gccgcccagt ttggcctagt gggagccgct gggctcggag gactcggagt cggagggctt
     1981 ggagttccag gtgttggggg ccttggaggt atacctccag ctgcagccgc taaagcagct
     2041 aaatacggtg ctgctggcct tggaggtgtc ctagggggtg ccgggcagtt cccacttgga
     2101 ggagtggcag caagacctgg cttcggattg tctcccattt tcccaggtgg ggcctgcctg
     2161 gggaaagctt gtggccggaa gagaaaatga gcttcctagg acccctgact cacgacctca
     2221 tcaacgttgg tgctactgct tggtggagaa tgtaaaccct ttgtaacccc atcccatgcc
     2281 cctccgactc cccaccccag gagggaacgg gcaggccggg cggccttgca gatccacagg
     2341 gcaaggaaac aagaggggag cggccaagtg ccccgaccag gaggccccct acttcagagg
     2401 caagggccat gtggtcctgg ccccccaccc catcccttcc cacctaggag ctccccctcc
     2461 acacagcctc catctccagg ggaacttggt gctacacgct ggtgctctta tcttcctggg
     2521 gggagggagg agggaagggt ggcccctcgg ggaaccccct acctggggct cctctaaaga
     2581 tggtgcagac acttcctggg cagtcccagc tccccctgcc caccaggacc caccgttggc
     2641 tgccatccag ttggtaccca agcacctgaa gcctcaaagc tggattcgct ctagcatccc
     2701 tcctctcctg ggtccacttg gccgtctcct ccccaccgat cgctgttccc cacatctggg
     2761 gcgcttttgg gttggaaaac caccccacac tgggaatagc caccttgccc ttgtagaatc
     2821 catccgccca tccgtccatt catccatcgg tccgtccatc catgtcccca gttgaccgcc
     2881 cggcaccact agctggctgg gtgcacccac catcaacctg gttgacctgt catggccgcc
     2941 tgtgccctgc ctccaccccc atcctacact cccccagggc gtgcggggct gtgcagactg
     3001 gggtgccagg catctcctcc ccacccgggg tgtccccaca tgcagtactg tatacccccc
     3061 atccctccct cggtccactg aacttcagag cagttcccat tcctgccccg cccatctttt
     3121 tgtgtctcgc tgtgatagat caataaatat tttatttttt gtcctggata tttggggatt
     3181 atttttgatt gttgatattc tcttttggtt ttattgttgt ggttcattga aaaaaaaaga
     3241 taattttttt ttctgatccg gggagctgta tccccagtag aaaaaacatt ttaatcactc
     3301 taatataact ctggatgaaa cacacctttt tttttaataa gaaaagagaa ttaactgctt
     3361 cagaaatgac taataaatga aaaaccttta aaggaaa
//
LOCUS       NM_000502               2719 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens eosinophil peroxidase (EPX), mRNA.
ACCESSION   NM_000502
VERSION     NM_000502.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2719)
  AUTHORS   Lal D, Wright BL, Shim KP, Zarka MA, Lee JJ, Chang YH, Ochkur SI,
            Divekar R, Doyle AD, Jacobsen EA, Kita H and Rank MA.
  TITLE     Eosinophil peroxidase, GATA3, and T-bet as tissue biomarkers in
            chronic rhinosinusitis
  JOURNAL   J Allergy Clin Immunol 143 (6), 2284-2287 (2019)
   PUBMED   30738839
  REMARK    GeneRIF: EPX is a useful biomarker for eosinophilic inflammation in
            chronic rhinosinusitis.
REFERENCE   2  (bases 1 to 2719)
  AUTHORS   Panagopoulos V, Leach DA, Zinonos I, Ponomarev V, Licari G, Liapis
            V, Ingman WV, Anderson P, DeNichilo MO and Evdokiou A.
  TITLE     Inflammatory peroxidases promote breast cancer progression in mice
            via regulation of the tumour microenvironment
  JOURNAL   Int J Oncol 50 (4), 1191-1200 (2017)
   PUBMED   28260049
  REMARK    GeneRIF: Both MPO and EPO are causatively involved in breast cancer
            progression and identified as potential therapeutic targets whereby
            specific novel inhibitors may reduce tumor growth and limit the
            occurrence of metastasis.
REFERENCE   3  (bases 1 to 2719)
  AUTHORS   Panagopoulos V, Liapis V, Zinonos I, Hay S, Leach DA, Ingman W,
            DeNichilo MO, Atkins GJ, Findlay DM, Zannettino ACW and Evdokiou A.
  TITLE     Peroxidase enzymes inhibit osteoclast differentiation and bone
            resorption
  JOURNAL   Mol Cell Endocrinol 440, 8-15 (2017)
   PUBMED   27836774
  REMARK    GeneRIF: peroxidase enzymes, like MPO and EPO, may play a
            fundamental role in inhibiting RANKL-induced osteoclast
            differentiation at inflammatory sites of bone fracture and injury.
REFERENCE   4  (bases 1 to 2719)
  AUTHORS   Wang Z, DiDonato JA, Buffa J, Comhair SA, Aronica MA, Dweik RA, Lee
            NA, Lee JJ, Thomassen MJ, Kavuru M, Erzurum SC and Hazen SL.
  TITLE     Eosinophil Peroxidase Catalyzed Protein Carbamylation Participates
            in Asthma
  JOURNAL   J Biol Chem 291 (42), 22118-22135 (2016)
   PUBMED   27587397
  REMARK    GeneRIF: EPO-mediated protein carbamylation is promoted during
            allergen-induced asthma exacerbation, and can both modulate immune
            responses and trigger a cascade of many of the inflammatory signals
            present in asthma.
REFERENCE   5  (bases 1 to 2719)
  AUTHORS   Sakamaki K, Kanda N, Ueda T, Aikawa E and Nagata S.
  TITLE     The eosinophil peroxidase gene forms a cluster with the genes for
            myeloperoxidase and lactoperoxidase on human chromosome 17
  JOURNAL   Cytogenet Cell Genet 88 (3-4), 246-248 (2000)
   PUBMED   10828600
REFERENCE   6  (bases 1 to 2719)
  AUTHORS   Keyhani E, Zarei MA and Lashgarblooki-Livani T.
  TITLE     Kinetics of peroxidases in guinea pig bone marrow under
            immunostimulation
  JOURNAL   FEBS Lett 452 (3), 233-236 (1999)
   PUBMED   10386597
REFERENCE   7  (bases 1 to 2719)
  AUTHORS   Oxvig C, Thomsen AR, Overgaard MT, Sorensen ES, Hojrup P, Bjerrum
            MJ, Gleich GJ and Sottrup-Jensen L.
  TITLE     Biochemical evidence for heme linkage through esters with Asp-93 and
            Glu-241 in human eosinophil peroxidase. The ester with Asp-93 is
            only partially formed in vivo
  JOURNAL   J Biol Chem 274 (24), 16953-16958 (1999)
   PUBMED   10358043
REFERENCE   8  (bases 1 to 2719)
  AUTHORS   Romano M, Patriarca P, Melo C, Baralle FE and Dri P.
  TITLE     Hereditary eosinophil peroxidase deficiency: immunochemical and
            spectroscopic studies and evidence for a compound heterozygosity of
            the defect
  JOURNAL   Proc Natl Acad Sci U S A 91 (26), 12496-12500 (1994)
   PUBMED   7809065
REFERENCE   9  (bases 1 to 2719)
  AUTHORS   Sakamaki K, Tomonaga M, Tsukui K and Nagata S.
  TITLE     Molecular cloning and characterization of a chromosomal gene for
            human eosinophil peroxidase
  JOURNAL   J Biol Chem 264 (28), 16828-16836 (1989)
   PUBMED   2550461
REFERENCE   10  (bases 1 to 2719)
  AUTHORS   Ten RM, Pease LR, McKean DJ, Bell MP and Gleich GJ.
  TITLE     Molecular cloning of the human eosinophil peroxidase. Evidence for
            the existence of a peroxidase multigene family
  JOURNAL   J Exp Med 169 (5), 1757-1769 (1989)
   PUBMED   2541222
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2149004,
            SAMEA2153307 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000225371.6/ ENSP00000225371.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM147889.1, AC005962.1,
            X14346.1, AL597635.1 and AJ705406.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000502.5.
            Summary: This gene is a member of the peroxidase gene family and is
            expressed in eosinophils. The encoded preproprotein is
            proteolytically processed into covalently attached heavy and light
            chains to form the mature enzyme, which functions as an oxidant.
            The enzyme is released at sites of parasitic infection or allergen
            stimulation to mediate lysis of protozoa or parasitic worms. The
            gene is found in a gene cluster with other peroxidase genes on
            chromosome 17. Mutations in this gene result in eosinophil
            peroxidase deficiency. [provided by RefSeq, Feb 2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2719
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q22"
     gene            1..2719
                     /gene="EPX"
                     /gene_synonym="EPO; EPP; EPX-PEN; EPXD"
                     /note="eosinophil peroxidase"
                     /db_xref="GeneID:8288"
                     /db_xref="HGNC:HGNC:3423"
                     /db_xref="MIM:131399"
     misc_feature    104..106
                     /gene="EPX"
                     /gene_synonym="EPO; EPP; EPX-PEN; EPXD"
                     /note="upstream in-frame stop codon"
     CDS             122..2269
                     /gene="EPX"
                     /gene_synonym="EPO; EPP; EPX-PEN; EPXD"
                     /EC_number="1.11.1.7"
                     /codon_start=1
                     /product="eosinophil peroxidase preproprotein"
                     /protein_id="NP_000493.1"
                     /db_xref="CCDS:CCDS11602.1"
                     /db_xref="GeneID:8288"
                     /db_xref="HGNC:HGNC:3423"
                     /db_xref="MIM:131399"
                     /translation="MHLLPALAGVLATLVLAQPCEGTDPASPGAVETSVLRDCIAEAKL
                     LVDAAYNWTQKSIKQRLRSGSASPMDLLSYFKQPVAATRTVVRAADYMHVALGLLEEKL
                     QPQRSGPFNVTDVLTEPQLRLLSQASGCALRDQAERCSDKYRTITGRCNNKRRPLLGAS
                     NQALARWLPAEYEDGLSLPFGWTPSRRRNGFLLPLVRAVSNQIVRFPNERLTSDRGRAL
                     MFMQWGQFIDHDLDFSPESPARVAFTAGVDCERTCAQLPPCFPIKIPPNDPRIKNQRDC
                     IPFFRSAPSCPQNKNRVRNQINALTSFVDASMVYGSEVSLSLRLRNRTNYLGLLAINQR
                     FQDNGRALLPFDNLHDDPCLLTNRSARIPCFLAGDTRSTETPKLAAMHTLFMREHNRLA
                     TELRRLNPRWNGDKLYNEARKIMGAMVQIITYRDFLPLVLGKARARRTLGHYRGYCSNV
                     DPRVANVFTLAFRFGHTMLQPFMFRLDSQYRASAPNSHVPLSSAFFASWRIVYEGGIDP
                     ILRGLMATPAKLNRQDAMLVDELRDRLFRQVRRIGLDLAALNMQRSRDHGLPGYNAWRR
                     FCGLSQPRNLAQLSRVLKNQDLARKFLNLYGTPDNIDIWIGAIAEPLLPGARVGPLLAC
                     LFENQFRRARDGDRFWWQKRGVFTKRQRKALSRISLSRIICDNTGITTVSRDIFRANIY
                     PRGFVNCSRIPRLNLSAWRGT"
     sig_peptide     122..172
                     /gene="EPX"
                     /gene_synonym="EPO; EPP; EPX-PEN; EPXD"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    275..277
                     /gene="EPX"
                     /gene_synonym="EPO; EPP; EPX-PEN; EPXD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11678.2); glycosylation site"
     misc_feature    458..460
                     /gene="EPX"
                     /gene_synonym="EPO; EPP; EPX-PEN; EPXD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11678.2); glycosylation site"
     mat_peptide     539..871
                     /gene="EPX"
                     /gene_synonym="EPO; EPP; EPX-PEN; EPXD"
                     /product="Eosinophil peroxidase light chain.
                     /id=PRO_0000023640"
                     /note="propagated from UniProtKB/Swiss-Prot (P11678.2)"
     mat_peptide     872..2266
                     /gene="EPX"
                     /gene_synonym="EPO; EPP; EPX-PEN; EPXD"
                     /product="Eosinophil peroxidase heavy chain.
                     /id=PRO_0000023641"
                     /note="propagated from UniProtKB/Swiss-Prot (P11678.2)"
     misc_feature    1100..1102
                     /gene="EPX"
                     /gene_synonym="EPO; EPP; EPX-PEN; EPXD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11678.2); glycosylation site"
     misc_feature    1208..1210
                     /gene="EPX"
                     /gene_synonym="EPO; EPP; EPX-PEN; EPXD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11678.2); glycosylation site"
     misc_feature    1250..1252
                     /gene="EPX"
                     /gene_synonym="EPO; EPP; EPX-PEN; EPXD"
                     /note="Transition state stabilizer.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00298; propagated
                     from UniProtKB/Swiss-Prot (P11678.2); other site"
     misc_feature    2219..2221
                     /gene="EPX"
                     /gene_synonym="EPO; EPP; EPX-PEN; EPXD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11678.2); glycosylation site"
     misc_feature    2243..2245
                     /gene="EPX"
                     /gene_synonym="EPO; EPP; EPX-PEN; EPXD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11678.2); glycosylation site"
     regulatory      2699..2704
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPX"
                     /gene_synonym="EPO; EPP; EPX-PEN; EPXD"
                     /note="hexamer: AATAAA"
     polyA_site      2719
                     /gene="EPX"
                     /gene_synonym="EPO; EPP; EPX-PEN; EPXD"
                     /note="major polyA site"
ORIGIN
        1 gaagagctgg aggaagtgag aggtcggctg ggggtcctca aagtgagagg ggagcagagg
       61 atcctcccgt gcaggctgtg gatgtcactc acttcccagc tggtgaagcc tcgctgcaga
      121 gatgcatctg ctcccagccc tggcaggggt cctggccaca ctcgtcctcg cccagccctg
      181 tgagggcact gacccagcct cccctggggc agtggagacc tcggtcctgc gagactgcat
      241 agcagaggcc aagttgctgg tggatgctgc ctacaattgg acccagaaga gcatcaagca
      301 gcggcttcgc agcggttcag ccagccccat ggacctcctg tcctacttca aacaaccggt
      361 agcagccacc aggacagttg ttcgggccgc agattatatg catgtggctt tggggctgct
      421 tgaagagaag ttacaacccc agcggtccgg acccttcaat gtcactgatg tgctaacaga
      481 accacagctg cggctgctgt cccaggccag tggctgtgct ctccgggacc aggccgagcg
      541 ctgcagcgac aagtaccgca ccatcactgg acggtgcaac aacaagagga gacccttgct
      601 aggggcctcc aaccaggctc tggctcgctg gctgcccgcc gagtatgagg atgggctgtc
      661 gctccccttc ggctggaccc ccagcaggag gcgcaatggc ttccttctcc ctcttgtccg
      721 ggctgtctcc aaccagattg tgcgcttccc caatgagaga ctgacctccg accgtggccg
      781 agccctcatg ttcatgcagt ggggccagtt cattgaccat gacctggact tctccccgga
      841 gtccccggcc agagtggcct tcactgcagg cgttgactgt gagaggacct gcgcccagct
      901 gcccccctgc tttcccatca agatcccacc caatgacccc cgcatcaaga accagcgtga
      961 ctgcatccct ttcttccgct cggcaccctc atgcccccaa aacaagaaca gagtccgcaa
     1021 ccagatcaac gcgctcacct cctttgtgga cgccagcatg gtgtatggca gtgaggtctc
     1081 cctctcgctg cggctccgca accggaccaa ctacctgggg ctgctggcca tcaaccagcg
     1141 ctttcaagac aacggccggg ccctgctgcc cttcgacaac ctgcacgatg acccctgtct
     1201 cctcaccaac cgctcggcgc gcatcccctg cttcctggca ggtgacaccc gatcaacgga
     1261 aacccccaaa ctggcagcca tgcacaccct ctttatgcga gagcacaacc ggctggccac
     1321 cgagctgaga cgcctgaatc cccggtggaa tggagacaaa ctgtacaatg aggctcggaa
     1381 gatcatgggg gccatggtcc agatcatcac ctaccgagac tttctgcccc tggttctggg
     1441 caaggcccgg gccaggagaa ccctggggca ctacaggggg tactgctcca atgtggaccc
     1501 acgggtggcc aatgtcttca ccctggcctt ccgctttggc cacacaatgc tccagccctt
     1561 catgttccgc ttggacagtc agtaccgggc ctccgcaccc aactcgcatg tcccacttag
     1621 ctctgccttc tttgccagct ggcggatcgt gtatgaaggg ggcatcgacc ccatcctccg
     1681 gggcctcatg gccacccctg ccaagctgaa ccgtcaggat gccatgttag tggatgagct
     1741 ccgggaccgg ctgtttcggc aagtgaggag gattgggctg gacctggcag ctctcaacat
     1801 gcaacgaagc cgggaccacg gccttccagg gtacaatgct tggaggcgct tctgtgggct
     1861 ctcccagccc cggaatttgg cacagcttag ccgggtgctg aaaaaccagg acttggcaag
     1921 gaagttcctg aatttgtatg gaacacctga caacattgac atctggattg gggccatcgc
     1981 tgagcctctt ttgccggggg ctcgagtggg gcctcttctg gcttgtctgt tcgagaacca
     2041 gttcagaaga gcccgagacg gagacaggtt ctggtggcag aaacgaggtg ttttcaccaa
     2101 aagacagcgc aaggccctga gcagaatttc cttgtctcga attatatgtg acaataccgg
     2161 tatcaccacg gtttcaaggg acatcttcag agccaacatc taccctcggg gctttgtgaa
     2221 ctgcagccgt atccccaggt tgaacctatc agcctggcga gggacatgag gcttctgcag
     2281 gagtctatcc caagtctcca acttttggag acaaggggaa ggggaggacc atgaggctgc
     2341 cttgtctccc tggagcaagt gcaggctgct gacgcttctg ctggctacag ctcagagctg
     2401 ggttccccag ccaggagtga aggctggggg ctcctatcag caatggacct tcccgccttg
     2461 ggagcctctt aggtattagg ctatgaatca gcgccacgtg caaaggcttg ggagccaagc
     2521 catgtggtct tgcaccccag gcaagaaaag tcagctggag ggtttacagc actttctact
     2581 gtttcccagc cctccctccc ctccctcacc atgactaaga gaccactcgg tcctagcctc
     2641 cagacacccc acaatactcc tctgagcctg aggccaggca gcatgctctg cttctaccaa
     2701 taaagcactg ctaagggca
//
LOCUS       NM_000503               4163 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens EYA transcriptional coactivator and phosphatase 1
            (EYA1), transcript variant EYA1C, mRNA.
ACCESSION   NM_000503
VERSION     NM_000503.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4163)
  AUTHORS   Yalcouye A, Traore O, Diarra S, Schrauwen I, Esoh K, Kadlubowska MK,
            Bharadwaj T, Adadey SM, Keita M, Guinto CO, Leal SM, Landoure G and
            Wonkam A.
  TITLE     A monoallelic variant in EYA1 is associated with Branchio-Otic
            syndrome in a Malian family
  JOURNAL   Mol Genet Genomic Med 10 (7), e1995 (2022)
   PUBMED   35698919
  REMARK    GeneRIF: A monoallelic variant in EYA1 is associated with
            Branchio-Otic syndrome in a Malian family.
REFERENCE   2  (bases 1 to 4163)
  AUTHORS   Lin K, You DY, Zhang LH, Zhou LJ, Zu JY, Xiao Y, Sun MH, Dong-Su,
            Cao X, Zhang TS and Ma J.
  TITLE     The genes for sensory perception of sound should be considered in
            gene diagnosis of congenital sensorineural hearing loss and microtia
  JOURNAL   J Appl Genet 63 (2), 327-337 (2022)
   PUBMED   35000142
  REMARK    GeneRIF: The genes for sensory perception of sound should be
            considered in gene diagnosis of congenital sensorineural hearing
            loss and microtia.
REFERENCE   3  (bases 1 to 4163)
  AUTHORS   Han R, Liu X, Ye E, Wu S, Zhao J, Duan L, Xia Y and Ding J.
  TITLE     [Genetic analysis of a Chinese pedigree affected with branchiootic
            syndrome due to a nonsense variant of EYA1 gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 39 (4), 374-377 (2022)
   PUBMED   35446969
  REMARK    GeneRIF: [Genetic analysis of a Chinese pedigree affected with
            branchiootic syndrome due to a nonsense variant of EYA1 gene].
REFERENCE   4  (bases 1 to 4163)
  AUTHORS   Masuda M, Kanno A, Nara K, Mutai H, Morisada N, Iijima K, Morimoto
            N, Nakano A, Sugiuchi T, Okamoto Y, Masuda S, Katsunuma S, Ogawa K
            and Matsunaga T.
  TITLE     Phenotype-genotype correlation in patients with typical and atypical
            branchio-oto-renal syndrome
  JOURNAL   Sci Rep 12 (1), 969 (2022)
   PUBMED   35046468
  REMARK    GeneRIF: Phenotype-genotype correlation in patients with typical and
            atypical branchio-oto-renal syndrome. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 4163)
  AUTHORS   Pignoni F, Hu B, Zavitz KH, Xiao J, Garrity PA and Zipursky SL.
  TITLE     The eye-specification proteins So and Eya form a complex and
            regulate multiple steps in Drosophila eye development
  JOURNAL   Cell 91 (7), 881-891 (1997)
   PUBMED   9428512
  REMARK    Erratum:[Cell 1998 Feb 20;92(4):following 585]
REFERENCE   6  (bases 1 to 4163)
  AUTHORS   Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C,
            Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, Konig R, Vigneron
            J, Weissenbach J, Petit C and Weil D.
  TITLE     Clustering of mutations responsible for branchio-oto-renal (BOR)
            syndrome in the eyes absent homologous region (eyaHR) of EYA1
  JOURNAL   Hum Mol Genet 6 (13), 2247-2255 (1997)
   PUBMED   9361030
REFERENCE   7  (bases 1 to 4163)
  AUTHORS   Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C,
            Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis
            M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van
            Regemorter N, Weissenbach J and Petit C.
  TITLE     A human homologue of the Drosophila eyes absent gene underlies
            branchio-oto-renal (BOR) syndrome and identifies a novel gene family
  JOURNAL   Nat Genet 15 (2), 157-164 (1997)
   PUBMED   9020840
REFERENCE   8  (bases 1 to 4163)
  AUTHORS   Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and
            Morton CC.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
REFERENCE   9  (bases 1 to 4163)
  AUTHORS   Smith,R.J.H.
  TITLE     Branchiootorenal Spectrum Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301554
REFERENCE   10  (bases 1 to 4163)
  AUTHORS   Stoppa-Lyonnet D, Carter PE, Meo T and Tosi M.
  TITLE     Clusters of intragenic Alu repeats predispose the human C1 inhibitor
            locus to deleterious rearrangements
  JOURNAL   Proc Natl Acad Sci U S A 87 (4), 1551-1555 (1990)
   PUBMED   2154751
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AJ000098.1, SRR18074969.43291.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000340726.8/ ENSP00000342626.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016465.8 and AC022858.8.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000503.5.
            Summary: This gene encodes a member of the eyes absent (EYA) family
            of proteins. The encoded protein may play a role in the developing
            kidney, branchial arches, eye, and ear. Mutations of this gene have
            been associated with branchiootorenal dysplasia syndrome,
            branchiootic syndrome, and sporadic cases of congenital cataracts
            and ocular anterior segment anomalies. A similar protein in mice
            can act as a transcriptional activator. Alternatively spliced
            transcript variants have been identified for this gene. [provided
            by RefSeq, Dec 2013].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4163
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q13.3"
     gene            1..4163
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1"
                     /note="EYA transcriptional coactivator and phosphatase 1"
                     /db_xref="GeneID:2138"
                     /db_xref="HGNC:HGNC:3519"
                     /db_xref="MIM:601653"
     misc_feature    106..108
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1"
                     /note="upstream in-frame stop codon"
     CDS             478..2256
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1"
                     /EC_number="3.1.3.16"
                     /EC_number="3.1.3.48"
                     /note="isoform 1 is encoded by transcript variant EYA1C;
                     eyes absent homolog 1"
                     /codon_start=1
                     /product="eyes absent homolog 1 isoform 1"
                     /protein_id="NP_000494.2"
                     /db_xref="CCDS:CCDS34906.1"
                     /db_xref="GeneID:2138"
                     /db_xref="HGNC:HGNC:3519"
                     /db_xref="MIM:601653"
                     /translation="MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKTE
                     PMSSSETASTTADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQ
                     TMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQTGF
                     LSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFG
                     QGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIH
                     SPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLL
                     TGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDL
                     STYNFGTDGFPAAATSANLCLATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGP
                     AKREAWLQLRAEIEALTDSWLTLALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGL
                     GIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISS
                     HSDLMALHHALELEYL"
     misc_feature    478..762
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99502.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1195..1437
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99502.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3422..3427
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1"
                     /note="hexamer: AATAAA"
     polyA_site      3454
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1"
     regulatory      4136..4141
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1"
                     /note="hexamer: AATAAA"
     polyA_site      4163
                     /gene="EYA1"
                     /gene_synonym="BOP; BOR; BOS1; OFC1"
                     /note="major polyA site"
ORIGIN
        1 ctcagatgct atctgccgct gctgtttggt ggggaaggag cgctgggcgc aaagctgtta
       61 ccaaacagaa cggtgggagc tgatggctcc gagtttgggg cgaggtagaa actctccagt
      121 gccacttccg actttaagcc ttcctgttgc cgtccactgt ggcgggtttc ttcctgggga
      181 acacgttttc gctcagtcgc tcggcagccc gagcctgcgg cagcggccag gcgcctgccc
      241 cctgcgccga gctttcccct gcagaggcgc tccactccca gaagcgccgc ggctgcacca
      301 gagcgcctga gagcccccgc gcgtacccat ccaggagcaa aactatgtca ggaatggagg
      361 tttgctaacc cagaaaattc gaaggaacac attaaactgg tggatgcagc agatgtaagc
      421 gctgtgcaaa catctcaagc cagttcagat gttgctgttt cctcaagttg caggtctatg
      481 gaaatgcagg atctaaccag cccgcatagc cgtctgagtg gtagtagtga atcccccagt
      541 ggccccaaac tcggtaactc tcatataaat agtaattcca tgactcccaa tggcaccgaa
      601 gttaaaacag agccaatgag cagcagtgaa acagcttcaa cgacagccga cgggtcttta
      661 aacaatttct caggttcagc aattgggagc agtagtttca gcccacgacc aactcaccag
      721 ttctctccac cacagattta cccttccaac agaccatacc cacatattct ccctacccct
      781 tcctcacaaa ctatggctgc atatgggcaa acacagttta ccacaggaat gcaacaagct
      841 acagcctatg ccacgtaccc acagccagga cagccgtacg gcatttcctc atatggtgca
      901 ttgtgggcag gcatcaagac tgaaggtgga ttgtcacagt ctcagtcacc tggacagaca
      961 ggatttctca gctatggcac aagcttcagt acccctcaac ctggacaggc accatacagc
     1021 taccagatgc aaggtagcag ttttacaaca tcatcaggaa tatatacagg aaataattca
     1081 ctcacaaatt cctctggatt taatagttca cagcaggact atccgtctta tcccagtttt
     1141 ggccagggtc agtacgcaca gtattataac agctcaccgt atccagcaca ttatatgacc
     1201 agcagcaaca ccagcccaac gacaccatcc accaatgcca cttaccagct tcaagaaccg
     1261 ccatctggca tcaccagcca agcagttaca gatcccacag cagagtacag cacaatccac
     1321 agcccatcaa cacccattaa agattcagat tctgatcgat tgcgtcgagg ttcagatggg
     1381 aaatcacgtg gacggggccg aagaaacaat aatccttcac ctcccccaga ttctgatctt
     1441 gagagagtgt tcatctggga cttggatgag acaatcattg ttttccactc cttgcttact
     1501 gggtcctacg ccaacagata tgggagggat ccacccactt cagtttccct tggactgcga
     1561 atggaagaaa tgattttcaa cttggcagac acacatttat tttttaatga cttagaagaa
     1621 tgtgaccaag tccatataga tgatgtttct tcagatgata acggacagga cctaagcaca
     1681 tataactttg gaacagatgg ctttcctgct gcagcaacca gtgctaactt atgtttggca
     1741 actggtgtac ggggcggtgt ggactggatg agaaagttgg ccttccgcta cagacgggta
     1801 aaagagatct acaacaccta caaaaataat gttggaggtc tgcttggtcc agctaagagg
     1861 gaagcctggc tgcagttgag ggccgaaatt gaagccctga ccgactcctg gttgacactg
     1921 gccctgaaag cactctcgct cattcactcc cggacaaact gtgtgaatat tttagtaaca
     1981 actactcagc tcatcccagc attggcgaaa gtcctgctgt atgggttagg aattgtattt
     2041 ccaatagaaa atatttacag tgcaactaaa ataggaaaag aaagctgttt tgagagaata
     2101 attcaaaggt ttggaagaaa agtggtgtat gttgttatag gagatggtgt agaagaagaa
     2161 caaggagcaa aaaagcacgc gatgcccttc tggaggatct ccagccactc ggacctcatg
     2221 gccctgcacc atgccttgga actggagtac ctgtaacagc gctcggcact ttgacagcgc
     2281 acagctgctc tgtgaccagg gacagatcca gcaggcccca gtctcgcatc agcgccggcc
     2341 tccagaactt agcaatttcc gcctggtgat gcgcagttgc tgtcagtctt gacctctgcc
     2401 tttgtggtga atggaggacc acgtctattt catcagaaca gctgttgact ctagtactgt
     2461 gaatccagtg aaaataagcc atgagaatgt tttagcacag cgttatgtgt ctgccacatt
     2521 aactacacgg ttcaaacctg tgaagaaagg acctgcaaac gcttcagttg ttagcatttt
     2581 caatgtgata taaacagctt ctccaataca gcaaacctaa ttgcacaaca gagactgaaa
     2641 tgtgtttcct gaataccagt ggaggaattt tcttgtaaag aaggtttact ttttggtgtc
     2701 tcatacccag ggtaatctgt acatctctac ttatttatga acagactttt tttaaaaaga
     2761 taaaaaaaca gctttattga ggtataattc acccaccaga cttttttaaa catcaaataa
     2821 ttgaagagac aatagcatta gaaataagtg attaaaggcc tctgcctcac aacatggcaa
     2881 gtacagtact ttgaatttta gcacattgca tagtagtttt aagtatgtct aatttaaacg
     2941 tataatatgt acatcactga gacaatcatg tacagaaaga atttttggtg taaatttgta
     3001 ataatggata attcttttac atattgttta gggaaatgat attgaaaggt agcaatgcct
     3061 ggatagtgaa gcatgaggca gcacgtgcac aaattcatgt gccgtgcctt atctgagttt
     3121 tcggtataaa tatgtagata atggattttt tttttttaga taatgttgtc aagaccaaaa
     3181 gcatggatgt caagtgtcag taaggatttt gttttctaaa attttttcct gcatcagttc
     3241 ttctgagggc cttgatgaaa taacacagca gtttcttaaa caatttgaaa caaaatgagc
     3301 tctcctacca cctcactttt tcatttccac actaatgtat tatatgtaac tacttggaaa
     3361 aaataattat tcaaatgctt cttcccacaa agaatataga tgatagtaga tatattttat
     3421 taataaaatg gttcatgaat cggagactaa caaagttttc atgtgctcag aattattaat
     3481 tatcgtgtct gcattttctt tcgataaagg aagacacacg atgctaatcc ggaaatcagc
     3541 aaactttgca ttactcccta tgtgcgtatt ttctctttct tcctgtcacc ctgaggaagg
     3601 ttcattgcca ttgtcatcac catggaaaca acgttcctct ccacctgcat tatgtactac
     3661 atgacaggca tcaatctggg gaaataataa aattatcacc tttgtcagac cataagagtt
     3721 tctccaaaag tggtcagttt ggctgggcaa tattttctct catctaacaa acacaatcca
     3781 ttgtcatgaa attaccctta ggatgagtct tctttaatca atcatatatt gggcgggaaa
     3841 aacaccagct ttgacccgaa gtagttgaag agctacttca ttcttttctg aagttgtgtg
     3901 ttgctgctag aaatagtcat ttgtgaatta tccaaattgt ttaaattcac aattgaatta
     3961 gttttttctt cctttttgct tgaagcaaac agttgacaat ttttaacctt ttcattttat
     4021 gtttttgtac tctgcagact gaaaagacaa agtttatctt ggccttactg tataaaggtg
     4081 tgctgtgtcc accgttgtgt acagaatttt tcttcattaa ttttgtgttt aagttaataa
     4141 aatttatttg tgatgtactg taa
//
LOCUS       NM_000504               1536 bp    mRNA    linear   PRI 17-APR-2023
DEFINITION  Homo sapiens coagulation factor X (F10), transcript variant 1, mRNA.
ACCESSION   NM_000504
VERSION     NM_000504.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1536)
  AUTHORS   Dong W, Wang J, Tian L, Zhang J, Settles EW, Qin C, Steinken-Kollath
            DR, Itogawa AN, Celona KR, Yi J, Bryant M, Mead H, Jaramillo SA, Lu
            H, Li A, Zumwalt RE, Dadwal S, Feng P, Yuan W, Whelan SPJ, Keim PS,
            Barker BM, Caligiuri MA and Yu J.
  TITLE     Factor Xa cleaves SARS-CoV-2 spike protein to block viral entry and
            infection
  JOURNAL   Nat Commun 14 (1), 1936 (2023)
   PUBMED   37024459
  REMARK    GeneRIF: Factor Xa cleaves SARS-CoV-2 spike protein to block viral
            entry and infection. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1536)
  AUTHORS   Schroer K, Alshawabkeh M, Schellhorn S, Bronder K, Zhang W and
            Ehrhardt A.
  TITLE     Influence of Heparan Sulfate Proteoglycans and Factor X on species D
            Human Adenovirus Uptake and Transduction
  JOURNAL   Viruses 15 (1), 55 (2022)
   PUBMED   36680095
  REMARK    GeneRIF: Influence of Heparan Sulfate Proteoglycans and Factor X on
            species D Human Adenovirus Uptake and Transduction. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 1536)
  AUTHORS   Zekri-Nechar K, Zamorano-Leon JJ, Reche C, Giner M, Lopez-de-Andres
            A, Jimenez-Garcia R, Lopez-Farre AJ and Martinez-Martinez CH.
  TITLE     Spike Protein Subunits of SARS-CoV-2 Alter Mitochondrial Metabolism
            in Human Pulmonary Microvascular Endothelial Cells: Involvement of
            Factor Xa
  JOURNAL   Dis Markers 2022, 1118195 (2022)
   PUBMED   36438904
  REMARK    GeneRIF: Spike Protein Subunits of SARS-CoV-2 Alter Mitochondrial
            Metabolism in Human Pulmonary Microvascular Endothelial Cells:
            Involvement of Factor Xa. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1536)
  AUTHORS   Traets MJM, Nijhuis RHT, Morre SA, Ouburg S, Remijn JA, Blok BA, de
            Laat B, Jong E, Herder GJM, Fiolet ATL and Verweij SP.
  TITLE     Association of genetic variations in ACE2, TIRAP and factor X with
            outcomes in COVID-19
  JOURNAL   PLoS One 17 (1), e0260897 (2022)
   PUBMED   34995294
  REMARK    GeneRIF: Association of genetic variations in ACE2, TIRAP and factor
            X with outcomes in COVID-19. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1536)
  AUTHORS   Huang MN, Hung HL, Stanfield-Oakley SA and High KA.
  TITLE     Characterization of the human blood coagulation factor X promoter
  JOURNAL   J Biol Chem 267 (22), 15440-15446 (1992)
   PUBMED   1322399
REFERENCE   6  (bases 1 to 1536)
  AUTHORS   Messier TL, Pittman DD, Long GL, Kaufman RJ and Church WR.
  TITLE     Cloning and expression in COS-1 cells of a full-length cDNA encoding
            human coagulation factor X
  JOURNAL   Gene 99 (2), 291-294 (1991)
   PUBMED   1902434
REFERENCE   7  (bases 1 to 1536)
  AUTHORS   Hassan HJ, Leonardi A, Chelucci C, Mattia G, Macioce G, Guerriero R,
            Russo G, Mannucci PM and Peschle C.
  TITLE     Blood coagulation factors in human embryonic-fetal development:
            preferential expression of the FVII/tissue factor pathway
  JOURNAL   Blood 76 (6), 1158-1164 (1990)
   PUBMED   1698100
REFERENCE   8  (bases 1 to 1536)
  AUTHORS   Broze GJ Jr, Girard TJ and Novotny WF.
  TITLE     Regulation of coagulation by a multivalent Kunitz-type inhibitor
  JOURNAL   Biochemistry 29 (33), 7539-7546 (1990)
   PUBMED   2271516
  REMARK    Review article
REFERENCE   9  (bases 1 to 1536)
  AUTHORS   Rawala-Sheikh R, Ahmad SS, Ashby B and Walsh PN.
  TITLE     Kinetics of coagulation factor X activation by platelet-bound factor
            IXa
  JOURNAL   Biochemistry 29 (10), 2606-2611 (1990)
   PUBMED   2110473
REFERENCE   10  (bases 1 to 1536)
  AUTHORS   Leytus,S.P., Chung,D.W., Kisiel,W., Kurachi,K. and Davie,E.W.
  TITLE     Characterization of a cDNA coding for human factor X
  JOURNAL   Proc Natl Acad Sci U S A 81 (12), 3699-3702 (1984)
   PUBMED   6587384
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC046125.1, M57285.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375559.8/ ENSP00000364709.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB158437.1, BC046125.1 and
            AL137002.19.
            On May 17, 2019 this sequence version replaced NM_000504.3.
            Summary: This gene encodes the vitamin K-dependent coagulation
            factor X of the blood coagulation cascade. This factor undergoes
            multiple processing steps before its preproprotein is converted to
            a mature two-chain form by the excision of the tripeptide RKR. Two
            chains of the factor are held together by 1 or more disulfide
            bonds; the light chain contains 2 EGF-like domains, while the heavy
            chain contains the catalytic domain which is structurally
            homologous to those of the other hemostatic serine proteases. The
            mature factor is activated by the cleavage of the activation
            peptide by factor IXa (in the intrisic pathway), or by factor VIIa
            (in the extrinsic pathway). The activated factor then converts
            prothrombin to thrombin in the presence of factor Va, Ca+2, and
            phospholipid during blood clotting. Mutations of this gene result
            in factor X deficiency, a hemorrhagic condition of variable
            severity. Alternative splicing results in multiple transcript
            variants encoding different isoforms that may undergo similar
            proteolytic processing to generate mature polypeptides. [provided
            by RefSeq, Aug 2015].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest protein (isoform 1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1536
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     gene            1..1536
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="coagulation factor X"
                     /db_xref="GeneID:2159"
                     /db_xref="HGNC:HGNC:3528"
                     /db_xref="MIM:613872"
     CDS             58..1524
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /EC_number="3.4.21.6"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; prothrombinase; factor Xa; Stuart-Prower factor"
                     /codon_start=1
                     /product="coagulation factor X isoform 1 preproprotein"
                     /protein_id="NP_000495.1"
                     /db_xref="CCDS:CCDS9530.1"
                     /db_xref="GeneID:2159"
                     /db_xref="HGNC:HGNC:3528"
                     /db_xref="MIM:613872"
                     /translation="MGRPLHLVLLSASLAGLLLLGESLFIRREQANNILARVTRANSFL
                     EEMKKGHLERECMEETCSYEEAREVFEDSDKTNEFWNKYKDGDQCETSPCQNQGKCKDG
                     LGEYTCTCLEGFEGKNCELFTRKLCSLDNGDCDQFCHEEQNSVVCSCARGYTLADNGKA
                     CIPTGPYPCGKQTLERRKRSVAQATSSSGEAPDSITWKPYDAADLDPTENPFDLLDFNQ
                     TQPERGDNNLTRIVGGQECKDGECPWQALLINEENEGFCGGTILSEFYILTAAHCLYQA
                     KRFKVRVGDRNTEQEEGGEAVHEVEVVIKHNRFTKETYDFDIAVLRLKTPITFRMNVAP
                     ACLPERDWAESTLMTQKTGIVSGFGRTHEKGRQSTRLKMLEVPYVDRNSCKLSSSFIIT
                     QNMFCAGYDTKQEDACQGDSGGPHVTRFKDTYFVTGIVSWGEGCARKGKYGIYTKVTAF
                     LKWIDRSMKTRGLPKAKSHAPEVITSSPLK"
     sig_peptide     58..126
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     178..1521
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /product="Coagulation factor X. /id=PRO_0000027787"
                     /note="propagated from UniProtKB/Swiss-Prot (P00742.2)"
     mat_peptide     178..594
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /product="Factor X light chain. /id=PRO_0000027788"
                     /note="propagated from UniProtKB/Swiss-Prot (P00742.2)"
     misc_feature    193..195
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6871167; propagated from
                     UniProtKB/Swiss-Prot (P00742.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    196..198
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6871167; propagated from
                     UniProtKB/Swiss-Prot (P00742.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    217..219
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6871167; propagated from
                     UniProtKB/Swiss-Prot (P00742.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    223..225
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6871167; propagated from
                     UniProtKB/Swiss-Prot (P00742.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    232..234
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6871167; propagated from
                     UniProtKB/Swiss-Prot (P00742.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    235..237
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6871167; propagated from
                     UniProtKB/Swiss-Prot (P00742.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    250..252
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6871167; propagated from
                     UniProtKB/Swiss-Prot (P00742.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    253..255
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6871167; propagated from
                     UniProtKB/Swiss-Prot (P00742.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    262..264
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6871167; propagated from
                     UniProtKB/Swiss-Prot (P00742.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    271..273
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6871167; propagated from
                     UniProtKB/Swiss-Prot (P00742.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    292..294
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6871167; propagated from
                     UniProtKB/Swiss-Prot (P00742.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    364..366
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="(3R)-3-hydroxyaspartate.
                     /evidence=ECO:0000269|PubMed:6871167; propagated from
                     UniProtKB/Swiss-Prot (P00742.2); hydroxylation site"
     mat_peptide     604..1521
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /product="Factor X heavy chain. /id=PRO_0000027789"
                     /note="propagated from UniProtKB/Swiss-Prot (P00742.2)"
     misc_feature    604..666
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="propagated from UniProtKB/Swiss-Prot (P00742.2);
                     Region: O-glycosylated at one site"
     misc_feature    652..654
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:8243461; propagated from
                     UniProtKB/Swiss-Prot (P00742.2); glycosylation site"
     misc_feature    688..690
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:8243461; propagated from
                     UniProtKB/Swiss-Prot (P00742.2); glycosylation site"
     misc_feature    718..720
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:8243461. /id=CAR_000012;
                     propagated from UniProtKB/Swiss-Prot (P00742.2);
                     glycosylation site"
     misc_feature    748..750
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:8243461. /id=CAR_000013;
                     propagated from UniProtKB/Swiss-Prot (P00742.2);
                     glycosylation site"
     mat_peptide     760..1521
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /product="Activated factor Xa heavy chain.
                     /id=PRO_0000027791"
                     /note="propagated from UniProtKB/Swiss-Prot (P00742.2)"
     misc_feature    1483..1512
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="propagated from UniProtKB/Swiss-Prot (P00742.2);
                     Region: O-glycosylated at one site"
     regulatory      1515..1520
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="hexamer: ATTAAA"
     polyA_site      1536
                     /gene="F10"
                     /gene_synonym="FX; FXA"
                     /note="major polyA site"
ORIGIN
        1 gactttgctc cagcagcctg tcccagtgag gacagggaca cagtactcgg ccacaccatg
       61 gggcgcccac tgcacctcgt cctgctcagt gcctccctgg ctggcctcct gctgctcggg
      121 gaaagtctgt tcatccgcag ggagcaggcc aacaacatcc tggcgagggt cacgagggcc
      181 aattcctttc ttgaagagat gaagaaagga cacctcgaaa gagagtgcat ggaagagacc
      241 tgctcatacg aagaggcccg cgaggtcttt gaggacagcg acaagacgaa tgaattctgg
      301 aataaataca aagatggcga ccagtgtgag accagtcctt gccagaacca gggcaaatgt
      361 aaagacggcc tcggggaata cacctgcacc tgtttagaag gattcgaagg caaaaactgt
      421 gaattattca cacggaagct ctgcagcctg gacaacgggg actgtgacca gttctgccac
      481 gaggaacaga actctgtggt gtgctcctgc gcccgcgggt acaccctggc tgacaacggc
      541 aaggcctgca ttcccacagg gccctacccc tgtgggaaac agaccctgga acgcaggaag
      601 aggtcagtgg cccaggccac cagcagcagc ggggaggccc ctgacagcat cacatggaag
      661 ccatatgatg cagccgacct ggaccccacc gagaacccct tcgacctgct tgacttcaac
      721 cagacgcagc ctgagagggg cgacaacaac ctcaccagga tcgtgggagg ccaggaatgc
      781 aaggacgggg agtgtccctg gcaggccctg ctcatcaatg aggaaaacga gggtttctgt
      841 ggtggaacca ttctgagcga gttctacatc ctaacggcag cccactgtct ctaccaagcc
      901 aagagattca aggtgagggt aggggaccgg aacacggagc aggaggaggg cggtgaggcg
      961 gtgcacgagg tggaggtggt catcaagcac aaccggttca caaaggagac ctatgacttc
     1021 gacatcgccg tgctccggct caagaccccc atcaccttcc gcatgaacgt ggcgcctgcc
     1081 tgcctccccg agcgtgactg ggccgagtcc acgctgatga cgcagaagac ggggattgtg
     1141 agcggcttcg ggcgcaccca cgagaagggc cggcagtcca ccaggctcaa gatgctggag
     1201 gtgccctacg tggaccgcaa cagctgcaag ctgtccagca gcttcatcat cacccagaac
     1261 atgttctgtg ccggctacga caccaagcag gaggatgcct gccaggggga cagcgggggc
     1321 ccgcacgtca cccgcttcaa ggacacctac ttcgtgacag gcatcgtcag ctggggagag
     1381 ggctgtgccc gtaaggggaa gtacgggatc tacaccaagg tcaccgcctt cctcaagtgg
     1441 atcgacaggt ccatgaaaac caggggcttg cccaaggcca agagccatgc cccggaggtc
     1501 ataacgtcct ctccattaaa gtgagatccc actcaa
//
LOCUS       NM_000505               2036 bp    mRNA    linear   PRI 07-AUG-2023
DEFINITION  Homo sapiens coagulation factor XII (F12), mRNA.
ACCESSION   NM_000505
VERSION     NM_000505.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2036)
  AUTHORS   Ji W, Lin S, Chen J, Jin C, Lin X, Ye Z, Qiu L and Qian D.
  TITLE     [Genetic analysis of a Chinese pedigree affected with Congenital
            coagulation factor XII deficiency due to a c.1A>G start codon
            variant of F12 gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (5), 547-551 (2023)
   PUBMED   37102287
  REMARK    GeneRIF: [Genetic analysis of a Chinese pedigree affected with
            Congenital coagulation factor XII deficiency due to a c.1A>G start
            codon variant of F12 gene].
REFERENCE   2  (bases 1 to 2036)
  AUTHORS   Fang S, Yang J, Zhang X, Yang L and Wang G.
  TITLE     [Analysis of F12 gene variants and molecular mechanisms in patients
            with coagulation factor deficiency]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (4), 429-434 (2023)
   PUBMED   36972937
  REMARK    GeneRIF: [Analysis of F12 gene variants and molecular mechanisms in
            patients with coagulation factor deficiency].
REFERENCE   3  (bases 1 to 2036)
  AUTHORS   Chou SC, Lin CY, Lin HY, Pai CH, Yu CY, Kuo SF, Lin JS, Lin PT, Hung
            MH, Hsieh HN, Liu HC and Shen MC.
  TITLE     Characterization of congenital factor XII deficiency in Taiwanese
            patients: identification of one novel and one common mutation
  JOURNAL   Int J Hematol 116 (4), 528-533 (2022)
   PUBMED   35675023
  REMARK    GeneRIF: Characterization of congenital factor XII deficiency in
            Taiwanese patients: identification of one novel and one common
            mutation.
REFERENCE   4  (bases 1 to 2036)
  AUTHORS   Johansson K, Johansson L, Nilsson TK and Lind MM.
  TITLE     Factor XII Concentrations and Risk of Intracerebral Haemorrhage. A
            Prospective Case-Referent Study
  JOURNAL   J Stroke Cerebrovasc Dis 30 (3), 105565 (2021)
   PUBMED   33412399
  REMARK    GeneRIF: Factor XII Concentrations and Risk of Intracerebral
            Haemorrhage. A Prospective Case-Referent Study.
REFERENCE   5  (bases 1 to 2036)
  AUTHORS   Calvo SE, Pagliarini DJ and Mootha VK.
  TITLE     Upstream open reading frames cause widespread reduction of protein
            expression and are polymorphic among humans
  JOURNAL   Proc Natl Acad Sci U S A 106 (18), 7507-7512 (2009)
   PUBMED   19372376
  REMARK    GeneRIF: Includes the study of a polymorphic upstream ORF in this
            gene, and shows that it functions to reduce protein levels by ~50%.
REFERENCE   6  (bases 1 to 2036)
  AUTHORS   Harris RJ, Ling VT and Spellman MW.
  TITLE     O-linked fucose is present in the first epidermal growth factor
            domain of factor XII but not protein C
  JOURNAL   J Biol Chem 267 (8), 5102-5107 (1992)
   PUBMED   1544894
REFERENCE   7  (bases 1 to 2036)
  AUTHORS   McMullen BA, Fujikawa K and Davie EW.
  TITLE     Location of the disulfide bonds in human plasma prekallikrein: the
            presence of four novel apple domains in the amino-terminal portion
            of the molecule
  JOURNAL   Biochemistry 30 (8), 2050-2056 (1991)
   PUBMED   1998666
REFERENCE   8  (bases 1 to 2036)
  AUTHORS   Miyata T, Kawabata S, Iwanaga S, Takahashi I, Alving B and Saito H.
  TITLE     Coagulation factor XII (Hageman factor) Washington D.C.: inactive
            factor XIIa results from Cys-571----Ser substitution
  JOURNAL   Proc Natl Acad Sci U S A 86 (21), 8319-8322 (1989)
   PUBMED   2510163
REFERENCE   9  (bases 1 to 2036)
  AUTHORS   Fujikawa,K. and McMullen,B.A.
  TITLE     Amino acid sequence of human beta-factor XIIa
  JOURNAL   J Biol Chem 258 (18), 10924-10933 (1983)
   PUBMED   6604055
REFERENCE   10  (bases 1 to 2036)
  AUTHORS   Mandle,R.J. Jr. and Kaplan,A.P.
  TITLE     Hageman-factor-dependent fibrinolysis: generation of fibrinolytic
            activity by the interaction of human activated factor XI and
            plasminogen
  JOURNAL   Blood 54 (4), 850-862 (1979)
   PUBMED   89876
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M11723.1, AB095845.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968540
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000253496.4/ ENSP00000253496.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            regulatory uORF             :: PMID: 19372376
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC145098.2, AB095845.1,
            M11723.1 and BE139501.1.
            On Feb 27, 2020 this sequence version replaced NM_000505.3.
            Summary: This gene encodes coagulation factor XII which circulates
            in blood as a zymogen. This single chain zymogen is converted to a
            two-chain serine protease with an heavy chain (alpha-factor XIIa)
            and a light chain. The heavy chain contains two fibronectin-type
            domains, two epidermal growth factor (EGF)-like domains, a kringle
            domain and a proline-rich domain, whereas the light chain contains
            only a catalytic domain. On activation, further cleavages takes
            place in the heavy chain, resulting in the production of
            beta-factor XIIa light chain and the alpha-factor XIIa light chain
            becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by
            factor XII to form kallikrein, which then cleaves factor XII first
            to alpha-factor XIIa and then to beta-factor XIIa. The active
            factor XIIa participates in the initiation of blood coagulation,
            fibrinolysis, and the generation of bradykinin and angiotensin. It
            activates coagulation factors VII and XI. Defects in this gene do
            not cause any clinical symptoms and the sole effect is that
            whole-blood clotting time is prolonged. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2036
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     gene            1..2036
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /note="coagulation factor XII"
                     /db_xref="GeneID:2161"
                     /db_xref="HGNC:HGNC:3530"
                     /db_xref="MIM:610619"
     regulatory      33..41
                     /regulatory_class="uORF"
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:19372376]"
                     /note="this uORF is predicted to encode a 2 aa peptide
                     (PMID:19372376)"
     CDS             38..1885
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /EC_number="3.4.21.38"
                     /note="Hageman factor; coagulation factor XIIa heavy chain;
                     beta-factor XIIa part 1; beta-factor XIIa part 2;
                     coagulation factor XIIa light chain; Plasma coagulation
                     Factor XIIa"
                     /codon_start=1
                     /product="coagulation factor XII preproprotein"
                     /protein_id="NP_000496.2"
                     /db_xref="CCDS:CCDS34302.1"
                     /db_xref="GeneID:2161"
                     /db_xref="HGNC:HGNC:3530"
                     /db_xref="MIM:610619"
                     /translation="MRALLLLGFLLVSLESTLSIPPWEAPKEHKYKAEEHTVVLTVTGE
                     PCHFPFQYHRQLYHKCTHKGRPGPQPWCATTPNFDQDQRWGYCLEPKKVKDHCSKHSPC
                     QKGGTCVNMPSGPHCLCPQHLTGNHCQKEKCFEPQLLRFFHKNEIWYRTEQAAVARCQC
                     KGPDAHCQRLASQACRTNPCLHGGRCLEVEGHRLCHCPVGYTGAFCDVDTKASCYDGRG
                     LSYRGLARTTLSGAPCQPWASEATYRNVTAEQARNWGLGGHAFCRNPDNDIRPWCFVLN
                     RDRLSWEYCDLAQCQTPTQAAPPTPVSPRLHVPLMPAQPAPPKPQPTTRTPPQSQTPGA
                     LPAKREQPPSLTRNGPLSCGQRLRKSLSSMTRVVGGLVALRGAHPYIAALYWGHSFCAG
                     SLIAPCWVLTAAHCLQDRPAPEDLTVVLGQERRNHSCEPCQTLAVRSYRLHEAFSPVSY
                     QHDLALLRLQEDADGSCALLSPYVQPVCLPSGAARPSETTLCQVAGWGHQFEGAEEYAS
                     FLQEAQVPFLSLERCSAPDVHGSSILPGMLCAGFLEGGTDACQGDSGGPLVCEDQAAER
                     RLTLQGIISWGSGCGDRNKPGVYTDVAYYLAWIREHTVS"
     sig_peptide     38..94
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /note="/evidence=ECO:0000269|PubMed:3886654; propagated
                     from UniProtKB/Swiss-Prot (P00748.3)"
     mat_peptide     95..1153
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /product="Coagulation factor XIIa heavy chain.
                     /id=PRO_0000027833"
                     /note="propagated from UniProtKB/Swiss-Prot (P00748.3)"
     misc_feature    362..364
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /note="O-linked (Fuc) threonine.
                     /evidence=ECO:0000269|PubMed:1544894; propagated from
                     UniProtKB/Swiss-Prot (P00748.3); glycosylation site"
     misc_feature    782..784
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:3877053, ECO:0000269|PubMed:3886654;
                     propagated from UniProtKB/Swiss-Prot (P00748.3);
                     glycosylation site"
     misc_feature    929..1114
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /note="propagated from UniProtKB/Swiss-Prot (P00748.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    932..934
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3886654; propagated from
                     UniProtKB/Swiss-Prot (P00748.3); glycosylation site"
     misc_feature    950..952
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3886654; propagated from
                     UniProtKB/Swiss-Prot (P00748.3); glycosylation site"
     misc_feature    959..961
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:3886654; propagated from
                     UniProtKB/Swiss-Prot (P00748.3); glycosylation site"
     misc_feature    1019..1021
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3886654; propagated from
                     UniProtKB/Swiss-Prot (P00748.3); glycosylation site"
     misc_feature    1022..1024
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3886654; propagated from
                     UniProtKB/Swiss-Prot (P00748.3); glycosylation site"
     misc_feature    1046..1048
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:3886654; propagated from
                     UniProtKB/Swiss-Prot (P00748.3); glycosylation site"
     mat_peptide     1097..1123
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /product="Beta-factor XIIa part 1. /id=PRO_0000027834"
                     /note="propagated from UniProtKB/Swiss-Prot (P00748.3)"
     mat_peptide     1154..1882
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /product="Coagulation factor XIIa light chain.
                     /id=PRO_0000027835"
                     /note="propagated from UniProtKB/Swiss-Prot (P00748.3)"
     misc_feature    1334..1336
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P00748.3); glycosylation site"
     regulatory      2013..2018
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /note="hexamer: AATAAA"
     polyA_site      2036
                     /gene="F12"
                     /gene_synonym="HAE3; HAEX; HAF"
                     /note="major polyA site"
ORIGIN
        1 actcctggat aggcagctgg accaacggac ggatgccatg agggctctgc tgctcctggg
       61 gttcctgctg gtgagcttgg agtcaacact ttcgattcca ccttgggaag cccccaagga
      121 gcataagtac aaagctgaag agcacacagt cgttctcact gtcaccgggg agccctgcca
      181 cttccccttc cagtaccacc ggcagctgta ccacaaatgt acccacaagg gccggccagg
      241 ccctcagccc tggtgtgcta ccacccccaa ctttgatcag gaccagcgat ggggatactg
      301 tttggagccc aagaaagtga aagaccactg cagcaaacac agcccctgcc agaaaggagg
      361 gacctgtgtg aacatgccaa gcggccccca ctgtctctgt ccacaacacc tcactggaaa
      421 ccactgccag aaagagaagt gctttgagcc tcagcttctc cggtttttcc acaagaatga
      481 gatatggtat agaactgagc aagcagctgt ggccagatgc cagtgcaagg gtcctgatgc
      541 ccactgccag cggctggcca gccaggcctg ccgcaccaac ccgtgcctcc atgggggtcg
      601 ctgcctagag gtggagggcc accgcctgtg ccactgcccg gtgggctaca ccggagcctt
      661 ctgcgacgtg gacaccaagg caagctgcta tgatggccgc gggctcagct accgcggcct
      721 ggccaggacc acgctctcgg gtgcgccctg tcagccgtgg gcctcggagg ccacctaccg
      781 gaacgtgact gccgagcaag cgcggaactg gggactgggc ggccacgcct tctgccggaa
      841 cccggacaac gacatccgcc cgtggtgctt cgtgctgaac cgcgaccggc tgagctggga
      901 gtactgcgac ctggcacagt gccagacccc aacccaggcg gcgcctccga ccccggtgtc
      961 ccctaggctt catgtcccac tcatgcccgc gcagccggca ccgccgaagc ctcagcccac
     1021 gacccggacc ccgcctcagt cccagacccc gggagccttg ccggcgaagc gggagcagcc
     1081 gccttccctg accaggaacg gcccactgag ctgcgggcag cggctccgca agagtctgtc
     1141 ttcgatgacc cgcgtcgttg gcgggctggt ggcgctacgc ggggcgcacc cctacatcgc
     1201 cgcgctgtac tggggccaca gtttctgcgc cggcagcctc atcgccccct gctgggtgct
     1261 gacggccgct cactgcctgc aggaccggcc cgcacccgag gatctgacgg tggtgctcgg
     1321 ccaggaacgc cgtaaccaca gctgtgagcc gtgccagacg ttggccgtgc gctcctaccg
     1381 cttgcacgag gccttctcgc ccgtcagcta ccagcacgac ctggctctgt tgcgccttca
     1441 ggaggatgcg gacggcagct gcgcgctcct gtcgccttac gttcagccgg tgtgcctgcc
     1501 aagcggcgcc gcgcgaccct ccgagaccac gctctgccag gtggccggct ggggccacca
     1561 gttcgagggg gcggaggaat atgccagctt cctgcaggag gcgcaggtac cgttcctctc
     1621 cctggagcgc tgctcagccc cggacgtgca cggatcctcc atcctccccg gcatgctctg
     1681 cgcagggttc ctcgagggcg gcaccgatgc gtgccagggt gattccggag gcccgctggt
     1741 gtgtgaggac caagctgcag agcgccggct caccctgcaa ggcatcatca gctggggatc
     1801 gggctgtggt gaccgcaaca agccaggcgt ctacaccgat gtggcctact acctggcctg
     1861 gatccgggag cacaccgttt cctgattgct cagggactca tctttccctc cttggtgatt
     1921 ccgcagtgag agagtggctg gggcatggaa ggcaagattg tgtcccattc ccccagtgcg
     1981 gccagctccg cgccaggatg gcgcaggaac tcaataaagt gctttgaaaa tgctga
//
LOCUS       NM_000506               1990 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens coagulation factor II, thrombin (F2), mRNA.
ACCESSION   NM_000506
VERSION     NM_000506.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1990)
  AUTHORS   Angelidakis E, Chen S, Zhang S, Wan Z, Kamm RD and Shelton SE.
  TITLE     Impact of Fibrinogen, Fibrin Thrombi, and Thrombin on Cancer Cell
            Extravasation Using In Vitro Microvascular Networks
  JOURNAL   Adv Healthc Mater 12 (19), e2202984 (2023)
   PUBMED   37119127
  REMARK    GeneRIF: Impact of Fibrinogen, Fibrin Thrombi, and Thrombin on
            Cancer Cell Extravasation Using In Vitro Microvascular Networks.
REFERENCE   2  (bases 1 to 1990)
  AUTHORS   Iannucci J and Grammas P.
  TITLE     Thrombin, a Key Driver of Pathological Inflammation in the Brain
  JOURNAL   Cells 12 (9), 1222 (2023)
   PUBMED   37174621
  REMARK    GeneRIF: Thrombin, a Key Driver of Pathological Inflammation in the
            Brain. Review article Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1990)
  AUTHORS   Zhang Y, Sun L, Wang X and Zhou Q.
  TITLE     Integrative analysis of HASMCs gene expression profile revealed the
            role of thrombin in the pathogenesis of atherosclerosis
  JOURNAL   BMC Cardiovasc Disord 23 (1), 191 (2023)
   PUBMED   37046189
  REMARK    GeneRIF: Integrative analysis of HASMCs gene expression profile
            revealed the role of thrombin in the pathogenesis of
            atherosclerosis. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1990)
  AUTHORS   Teodoro AGF, Rodrigues WF, Farnesi-de-Assuncao TS, Borges AVBE,
            Obata MMS, Neto JRDC, da Silva DAA, Andrade-Silva LE, Desiderio CS,
            Costa-Madeira JC, Barbosa RM, Cunha ACCH, Pereira LQ, de Vito FB,
            Vaz Tanaka SCS, Helmo FR, Lemes MR, Barbosa LM, Trevisan RO, Mundim
            FV, Oliveira-Scussel ACM, Junior PRR, Monteiro IB, Ferreira YM,
            Machado GH, Ferreira-Paim K, Moraes-Souza H, de Oliveira CJF,
            Rodrigues Junior V and Silva MVD.
  TITLE     Inflammatory Response and Activation of Coagulation after COVID-19
            Infection
  JOURNAL   Viruses 15 (4), 938 (2023)
   PUBMED   37112918
  REMARK    GeneRIF: Inflammatory Response and Activation of Coagulation after
            COVID-19 Infection. Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1990)
  AUTHORS   Papareddy P, Rydengard V, Pasupuleti M, Walse B, Morgelin M,
            Chalupka A, Malmsten M and Schmidtchen A.
  TITLE     Proteolysis of human thrombin generates novel host defense peptides
  JOURNAL   PLoS Pathog 6 (4), e1000857 (2010)
   PUBMED   20421939
  REMARK    GeneRIF: C-terminal peptides of thrombin display antimicrobial
            activity against Gram-positive and Gram-negative bacteria.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1990)
  AUTHORS   Kujovich,J.L.
  TITLE     Prothrombin Thrombophilia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301327
REFERENCE   7  (bases 1 to 1990)
  AUTHORS   Iwahana H, Yoshimoto K, Shigekiyo T, Shirakami A, Saito S and
            Itakura M.
  TITLE     Molecular and genetic analysis of a compound heterozygote for
            dysprothrombinemia of prothrombin Tokushima and hypoprothrombinemia
  JOURNAL   Am J Hum Genet 51 (6), 1386-1395 (1992)
   PUBMED   1334372
REFERENCE   8  (bases 1 to 1990)
  AUTHORS   Owen,C.A. Jr., Henriksen,R.A., McDuffie,F.C. and Mann,K.G.
  TITLE     Prothrombin Quick. A newly identified dysprothrombinemia
  JOURNAL   Mayo Clin Proc 53 (1), 29-33 (1978)
   PUBMED   625142
REFERENCE   9  (bases 1 to 1990)
  AUTHORS   Butkowski,R.J., Elion,J., Downing,M.R. and Mann,K.G.
  TITLE     Primary structure of human prethrombin 2 and alpha-thrombin
  JOURNAL   J Biol Chem 252 (14), 4942-4957 (1977)
   PUBMED   873923
REFERENCE   10  (bases 1 to 1990)
  AUTHORS   Walz,D.A., Hewett-Emmett,D. and Seegers,W.H.
  TITLE     Amino acid sequence of human prothrombin fragments 1 and 2
  JOURNAL   Proc Natl Acad Sci U S A 74 (5), 1969-1972 (1977)
   PUBMED   266717
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK222775.1, BC051332.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145122,
            SAMEA2155590 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related                :: relevant for disease process
            MANE Ensembl match :: ENST00000311907.10/ ENSP00000308541.5
            Protein has antimicrobial activity :: PMID: 20421939
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312965.1, AK303747.1 and
            BC051332.1.
            On Aug 31, 2019 this sequence version replaced NM_000506.4.
            Summary: This gene encodes the prothrombin protein (also known as
            coagulation factor II). This protein is proteolytically cleaved in
            multiple steps to form the activated serine protease thrombin. The
            activated thrombin enzyme plays an important role in thrombosis and
            hemostasis by converting fibrinogen to fibrin during blood clot
            formation, by stimulating platelet aggregation, and by activating
            additional coagulation factors. Thrombin also plays a role in cell
            proliferation, tissue repair, and angiogenesis as well as
            maintaining vascular integrity during development and postnatal
            life. Peptides derived from the C-terminus of this protein have
            antimicrobial activity against E. coli and P. aeruginosa. Mutations
            in this gene lead to various forms of thrombosis and
            dysprothrombinemia. Rapid increases in cytokine levels following
            coronavirus infections can dysregulate the coagulation cascade and
            produce thrombosis, compromised blood supply, and organ failure.
            [provided by RefSeq, May 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1990
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..1990
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="coagulation factor II, thrombin"
                     /db_xref="GeneID:2147"
                     /db_xref="HGNC:HGNC:3535"
                     /db_xref="MIM:176930"
     misc_feature    15..17
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="upstream in-frame stop codon"
     CDS             24..1892
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /EC_number="3.4.21.5"
                     /note="prothrombin B-chain; prepro-coagulation factor II;
                     thrombin factor II"
                     /codon_start=1
                     /product="prothrombin preproprotein"
                     /protein_id="NP_000497.1"
                     /db_xref="CCDS:CCDS31476.1"
                     /db_xref="GeneID:2147"
                     /db_xref="HGNC:HGNC:3535"
                     /db_xref="MIM:176930"
                     /translation="MAHVRGLQLPGCLALAALCSLVHSQHVFLAPQQARSLLQRVRRAN
                     TFLEEVRKGNLERECVEETCSYEEAFEALESSTATDVFWAKYTACETARTPRDKLAACL
                     EGNCAEGLGTNYRGHVNITRSGIECQLWRSRYPHKPEINSTTHPGADLQENFCRNPDSS
                     TTGPWCYTTDPTVRRQECSIPVCGQDQVTVAMTPRSEGSSVNLSPPLEQCVPDRGQQYQ
                     GRLAVTTHGLPCLAWASAQAKALSKHQDFNSAVQLVENFCRNPDGDEEGVWCYVAGKPG
                     DFGYCDLNYCEEAVEEETGDGLDEDSDRAIEGRTATSEYQTFFNPRTFGSGEADCGLRP
                     LFEKKSLEDKTERELLESYIDGRIVEGSDAEIGMSPWQVMLFRKSPQELLCGASLISDR
                     WVLTAAHCLLYPPWDKNFTENDLLVRIGKHSRTRYERNIEKISMLEKIYIHPRYNWREN
                     LDRDIALMKLKKPVAFSDYIHPVCLPDRETAASLLQAGYKGRVTGWGNLKETWTANVGK
                     GQPSVLQVVNLPIVERPVCKDSTRIRITDNMFCAGYKPDEGKRGDACEGDSGGPFVMKS
                     PFNNRWYQMGIVSWGEGCDRDGKYGFYTHVFRLKKWIQKVIDQFGE"
     sig_peptide     24..95
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     153..1889
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /product="Prothrombin. /id=PRO_0000028160"
                     /note="propagated from UniProtKB/Swiss-Prot (P00734.2)"
     mat_peptide     153..617
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /product="Activation peptide fragment 1.
                     /id=PRO_0000028161"
                     /note="propagated from UniProtKB/Swiss-Prot (P00734.2)"
     misc_feature    168..170
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:3759958, ECO:0000269|PubMed:6305407;
                     propagated from UniProtKB/Swiss-Prot (P00734.2);
                     gamma-carboxyglutamic-acid site"
     misc_feature    171..173
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:3759958, ECO:0000269|PubMed:6305407;
                     propagated from UniProtKB/Swiss-Prot (P00734.2);
                     gamma-carboxyglutamic-acid site"
     misc_feature    192..194
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6305407; propagated from
                     UniProtKB/Swiss-Prot (P00734.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    198..200
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6305407; propagated from
                     UniProtKB/Swiss-Prot (P00734.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    207..209
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6305407; propagated from
                     UniProtKB/Swiss-Prot (P00734.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    210..212
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6305407; propagated from
                     UniProtKB/Swiss-Prot (P00734.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    225..227
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6305407; propagated from
                     UniProtKB/Swiss-Prot (P00734.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    228..230
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6305407; propagated from
                     UniProtKB/Swiss-Prot (P00734.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    237..239
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6305407; propagated from
                     UniProtKB/Swiss-Prot (P00734.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    246..248
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00463,
                     ECO:0000269|PubMed:6305407; propagated from
                     UniProtKB/Swiss-Prot (P00734.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    384..386
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:22171320;
                     propagated from UniProtKB/Swiss-Prot (P00734.2);
                     glycosylation site"
     misc_feature    450..452
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:22171320;
                     propagated from UniProtKB/Swiss-Prot (P00734.2);
                     glycosylation site"
     misc_feature    615..620
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="Cleavage, by thrombin; propagated from
                     UniProtKB/Swiss-Prot (P00734.2); cleavage site"
     mat_peptide     618..1004
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /product="Activation peptide fragment 2.
                     /id=PRO_0000028162"
                     /note="propagated from UniProtKB/Swiss-Prot (P00734.2)"
     misc_feature    963..968
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="Cleavage, by factor Xa.
                     /evidence=ECO:0000269|PubMed:34265300; propagated from
                     UniProtKB/Swiss-Prot (P00734.2); cleavage site"
     mat_peptide     966..1112
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /product="Thrombin light chain. /id=PRO_0000028163"
                     /note="propagated from UniProtKB/Swiss-Prot (P00734.2)"
     misc_feature    1110..1115
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="Cleavage, by factor Xa.
                     /evidence=ECO:0000269|PubMed:34265300; propagated from
                     UniProtKB/Swiss-Prot (P00734.2); cleavage site"
     mat_peptide     1113..1889
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /product="Thrombin heavy chain. /id=PRO_0000028164"
                     /note="propagated from UniProtKB/Swiss-Prot (P00734.2)"
     misc_feature    1269..1271
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19838169, ECO:0000269|PubMed:873923;
                     propagated from UniProtKB/Swiss-Prot (P00734.2);
                     glycosylation site"
     mat_peptide     1602..1889
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /product="11 kDa TCP (Thrombin-derived C-terminal Peptide)"
                     /experiment="DESCRIPTION:antimicrobial
                     peptide[PMID:20421939]"
                     /exception="alternative processing"
     misc_feature    1674..1742
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="propagated from UniProtKB/Swiss-Prot (P00734.2);
                     Region: High affinity receptor-binding region which is also
                     known as the TP508 peptide"
     regulatory      1970..1975
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="hexamer: AATAAA"
     polyA_site      1990
                     /gene="F2"
                     /gene_synonym="PT; RPRGL2; THPH1"
                     /note="major polyA site"
ORIGIN
        1 agtgacccag gagctgacac actatggcgc acgtccgagg cttgcagctg cctggctgcc
       61 tggccctggc tgccctgtgt agccttgtgc acagccagca tgtgttcctg gctcctcagc
      121 aagcacggtc gctgctccag cgggtccggc gagccaacac cttcttggag gaggtgcgca
      181 agggcaacct ggagcgagag tgcgtggagg agacgtgcag ctacgaggag gccttcgagg
      241 ctctggagtc ctccacggct acggatgtgt tctgggccaa gtacacagct tgtgagacag
      301 cgaggacgcc tcgagataag cttgctgcat gtctggaagg taactgtgct gagggtctgg
      361 gtacgaacta ccgagggcat gtgaacatca cccggtcagg cattgagtgc cagctatgga
      421 ggagtcgcta cccacataag cctgaaatca actccactac ccatcctggg gccgacctac
      481 aggagaattt ctgccgcaac cccgacagca gcaccacggg accctggtgc tacactacag
      541 accccaccgt gaggaggcag gaatgcagca tccctgtctg tggccaggat caagtcactg
      601 tagcgatgac tccacgctcc gaaggctcca gtgtgaatct gtcacctcca ttggagcagt
      661 gtgtccctga tcgggggcag cagtaccagg ggcgcctggc ggtgaccaca catgggctcc
      721 cctgcctggc ctgggccagc gcacaggcca aggccctgag caagcaccag gacttcaact
      781 cagctgtgca gctggtggag aacttctgcc gcaacccaga cggggatgag gagggcgtgt
      841 ggtgctatgt ggccgggaag cctggcgact ttgggtactg cgacctcaac tattgtgagg
      901 aggccgtgga ggaggagaca ggagatgggc tggatgagga ctcagacagg gccatcgaag
      961 ggcgtaccgc caccagtgag taccagactt tcttcaatcc gaggaccttt ggctcgggag
     1021 aggcagactg tgggctgcga cctctgttcg agaagaagtc gctggaggac aaaaccgaaa
     1081 gagagctcct ggaatcctac atcgacgggc gcattgtgga gggctcggat gcagagatcg
     1141 gcatgtcacc ttggcaggtg atgcttttcc ggaagagtcc ccaggagctg ctgtgtgggg
     1201 ccagcctcat cagtgaccgc tgggtcctca ccgccgccca ctgcctcctg tacccgccct
     1261 gggacaagaa cttcaccgag aatgaccttc tggtgcgcat tggcaagcac tcccgcacca
     1321 ggtacgagcg aaacattgaa aagatatcca tgttggaaaa gatctacatc caccccaggt
     1381 acaactggcg ggagaacctg gaccgggaca ttgccctgat gaagctgaag aagcctgttg
     1441 ccttcagtga ctacattcac cctgtgtgtc tgcccgacag ggagacggca gccagcttgc
     1501 tccaggctgg atacaagggg cgggtgacag gctggggcaa cctgaaggag acgtggacag
     1561 ccaacgttgg taaggggcag cccagtgtcc tgcaggtggt gaacctgccc attgtggagc
     1621 ggccggtctg caaggactcc acccggatcc gcatcactga caacatgttc tgtgctggtt
     1681 acaagcctga tgaagggaaa cgaggggatg cctgtgaagg tgacagtggg ggaccctttg
     1741 tcatgaagag cccctttaac aaccgctggt atcaaatggg catcgtctca tggggtgaag
     1801 gctgtgaccg ggatgggaaa tatggcttct acacacatgt gttccgcctg aagaagtgga
     1861 tacagaaggt cattgatcag tttggagagt agggggccac tcatattctg ggctcctgga
     1921 accaatcccg tgaaagaatt atttttgtgt ttctaaaact atggttccca ataaaagtga
     1981 ctctcagcga
//
LOCUS       NM_000507               1473 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens fructose-bisphosphatase 1 (FBP1), transcript variant 1,
            mRNA.
ACCESSION   NM_000507
VERSION     NM_000507.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1473)
  AUTHORS   He X, Zhong X, Fang Y, Hu Z, Chen Z, Wang Y, Huang H, Zhao S, Li D
            and Wei P.
  TITLE     AF9 sustains glycolysis in colorectal cancer via H3K9ac-mediated
            PCK2 and FBP1 transcription
  JOURNAL   Clin Transl Med 13 (8), e1352 (2023)
   PUBMED   37565737
  REMARK    GeneRIF: AF9 sustains glycolysis in colorectal cancer via
            H3K9ac-mediated PCK2 and FBP1 transcription.
REFERENCE   2  (bases 1 to 1473)
  AUTHORS   Sun H, Zhang H, Jing L, Zhao H, Chen B and Song W.
  TITLE     FBP1 is a potential prognostic biomarker and correlated with tumor
            immunosuppressive microenvironment in glioblastoma
  JOURNAL   Neurosurg Rev 46 (1), 187 (2023)
   PUBMED   37507483
  REMARK    GeneRIF: FBP1 is a potential prognostic biomarker and correlated
            with tumor immunosuppressive microenvironment in glioblastoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1473)
  AUTHORS   Brauer N, Maruta Y, Lisci M, Strege K, Oschlies I, Nakamura H, Bohm
            S, Lehmberg K, Brandhoff L, Ehl S, Parvaneh N, Klapper W, Fukuda M,
            Griffiths GM, Hennies HC, Niehues T and Ammann S.
  TITLE     Immunodeficiency with susceptibility to lymphoma with complex
            genotype affecting energy metabolism (FBP1, ACAD9) and vesicle
            trafficking (RAB27A)
  JOURNAL   Front Immunol 14, 1151166 (2023)
   PUBMED   37388727
  REMARK    GeneRIF: Immunodeficiency with susceptibility to lymphoma with
            complex genotype affecting energy metabolism (FBP1, ACAD9) and
            vesicle trafficking (RAB27A). Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1473)
  AUTHORS   Wang Z, Li M, Jiang H, Luo S, Shao F, Xia Y, Yang M, Ren X, Liu T,
            Yan M, Qian X, He H, Guo D, Duan Y, Wu K, Wang L, Ji G, Shen Y, Li
            L, Zheng P, Dong B, Fang J, Zheng M, Liang T, Li H, Yu R, Xu D and
            Lu Z.
  TITLE     Fructose-1,6-bisphosphatase 1 functions as a protein phosphatase to
            dephosphorylate histone H3 and suppresses PPARalpha-regulated gene
            transcription and tumour growth
  JOURNAL   Nat Cell Biol 24 (11), 1655-1665 (2022)
   PUBMED   36266488
  REMARK    GeneRIF: Fructose-1,6-bisphosphatase 1 functions as a protein
            phosphatase to dephosphorylate histone H3 and suppresses
            PPARalpha-regulated gene transcription and tumour growth.
REFERENCE   5  (bases 1 to 1473)
  AUTHORS   Xu Y, Tran L, Tang J, Nguyen V, Sewell E, Xiao J, Hino C, Wasnik S,
            Francis-Boyle OL, Zhang KK, Xie L, Zhong JF, Baylink DJ, Chen CS,
            Reeves ME and Cao H.
  TITLE     FBP1-Altered Carbohydrate Metabolism Reduces Leukemic Viability
            through Activating P53 and Modulating the Mitochondrial Quality
            Control System In Vitro
  JOURNAL   Int J Mol Sci 23 (19), 11387 (2022)
   PUBMED   36232688
  REMARK    GeneRIF: FBP1-Altered Carbohydrate Metabolism Reduces Leukemic
            Viability through Activating P53 and Modulating the Mitochondrial
            Quality Control System In Vitro. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1473)
  AUTHORS   el-Maghrabi MR, Lange AJ, Jiang W, Yamagata K, Stoffel M, Takeda J,
            Fernald AA, Le Beau MM, Bell GI, Baker L et al.
  TITLE     Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron
            organization, localization to chromosome bands 9q22.2-q22.3, and
            mutation screening in subjects with fructose-1,6-bisphosphatase
            deficiency
  JOURNAL   Genomics 27 (3), 520-525 (1995)
   PUBMED   7558035
REFERENCE   7  (bases 1 to 1473)
  AUTHORS   Bijarnia-Mahay,S., Bhatia,S. and Arora,V.
  TITLE     Fructose-1,6-Bisphosphatase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   31804789
REFERENCE   8  (bases 1 to 1473)
  AUTHORS   el-Maghrabi MR, Lange AJ, Kummel L and Pilkis SJ.
  TITLE     The rat fructose-1,6-bisphosphatase gene. Structure and regulation
            of expression
  JOURNAL   J Biol Chem 266 (4), 2115-2120 (1991)
   PUBMED   1846613
REFERENCE   9  (bases 1 to 1473)
  AUTHORS   Ke HM, Zhang YP and Lipscomb WN.
  TITLE     Crystal structure of fructose-1,6-bisphosphatase complexed with
            fructose 6-phosphate, AMP, and magnesium
  JOURNAL   Proc Natl Acad Sci U S A 87 (14), 5243-5247 (1990)
   PUBMED   2164670
REFERENCE   10  (bases 1 to 1473)
  AUTHORS   Solomon DH, Raynal MC, Tejwani GA and Cayre YE.
  TITLE     Activation of the fructose 1,6-bisphosphatase gene by
            1,25-dihydroxyvitamin D3 during monocytic differentiation
  JOURNAL   Proc Natl Acad Sci U S A 85 (18), 6904-6908 (1988)
   PUBMED   2842796
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC012927.1, AK223395.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375326.9/ ENSP00000364475.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA962803.1 and BC012927.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000507.3.
            Summary: Fructose-1,6-bisphosphatase 1, a gluconeogenesis
            regulatory enzyme, catalyzes the hydrolysis of fructose
            1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate.
            Fructose-1,6-diphosphatase deficiency is associated with
            hypoglycemia and metabolic acidosis. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1473
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.32"
     gene            1..1473
                     /gene="FBP1"
                     /gene_synonym="FBP"
                     /note="fructose-bisphosphatase 1"
                     /db_xref="GeneID:2203"
                     /db_xref="HGNC:HGNC:3606"
                     /db_xref="MIM:611570"
     CDS             209..1225
                     /gene="FBP1"
                     /gene_synonym="FBP"
                     /EC_number="3.1.3.11"
                     /note="FBPase 1; D-fructose-1,6-bisphosphate
                     1-phosphohydrolase 1; liver FBPase; growth-inhibiting
                     protein 17"
                     /codon_start=1
                     /product="fructose-1,6-bisphosphatase 1"
                     /protein_id="NP_000498.2"
                     /db_xref="CCDS:CCDS6712.1"
                     /db_xref="GeneID:2203"
                     /db_xref="HGNC:HGNC:3606"
                     /db_xref="MIM:611570"
                     /translation="MADQAPFDTDVNTLTRFVMEEGRKARGTGELTQLLNSLCTAVKAI
                     SSAVRKAGIAHLYGIAGSTNVTGDQVKKLDVLSNDLVMNMLKSSFATCVLVSEEDKHAI
                     IVEPEKRGKYVVCFDPLDGSSNIDCLVSVGTIFGIYRKKSTDEPSEKDALQPGRNLVAA
                     GYALYGSATMLVLAMDCGVNCFMLDPAIGEFILVDKDVKIKKKGKIYSLNEGYARDFDP
                     AVTEYIQRKKFPPDNSAPYGARYVGSMVADVHRTLVYGGIFLYPANKKSPNGKLRLLYE
                     CNPMAYVMEKAGGMATTGKEAVLDVIPTDIHQRAPVILGSPDDVLEFLKVYEKHSAQ"
     misc_feature    212..214
                     /gene="FBP1"
                     /gene_synonym="FBP"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000250|UniProtKB:P00637; propagated from
                     UniProtKB/Swiss-Prot (P09467.5); acetylation site"
     misc_feature    854..856
                     /gene="FBP1"
                     /gene_synonym="FBP"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q9QXD6; propagated from
                     UniProtKB/Swiss-Prot (P09467.5); phosphorylation site"
     misc_feature    941..943
                     /gene="FBP1"
                     /gene_synonym="FBP"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q9QXD6; propagated from
                     UniProtKB/Swiss-Prot (P09467.5); phosphorylation site"
     misc_feature    1001..1003
                     /gene="FBP1"
                     /gene_synonym="FBP"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P09467.5); phosphorylation site"
     regulatory      1329..1334
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBP1"
                     /gene_synonym="FBP"
                     /note="hexamer: AATAAA"
     polyA_site      1359
                     /gene="FBP1"
                     /gene_synonym="FBP"
                     /note="major polyA site"
ORIGIN
        1 ctggcccagt tgcaccacga gcgctgcgga cactcggggc ggcagtcggt ctgtcagtcc
       61 tcccgccagg tcccgcggcc cgcacctgcc gcccgcacct gcagctccgc acctgcggcc
      121 agtgcctact gccctctctt gccgcccgca cctgcagccc cgcacctgcc gcttgcacct
      181 gcagccccgc gctctacccg gttcaagcat ggctgaccag gcgcccttcg acacggacgt
      241 caacaccctg acccgcttcg tcatggagga gggcaggaag gcccgcggca cgggcgagtt
      301 gacccagctg ctcaactcgc tctgcacagc agtcaaagcc atctcttcgg cggtgcgcaa
      361 ggcgggcatc gcgcacctct atggcattgc tggttctacc aacgtgacag gtgatcaagt
      421 taagaagctg gacgtcctct ccaacgacct ggttatgaac atgttaaagt catcctttgc
      481 cacgtgtgtt ctcgtgtcag aagaagataa acacgccatc atagtggaac cggagaaaag
      541 gggtaaatat gtggtctgtt ttgatcccct tgatggatct tccaacatcg attgccttgt
      601 gtccgttgga accatttttg gcatctatag aaagaaatca actgatgagc cttctgagaa
      661 ggatgctctg caaccaggcc ggaacctggt ggcagccggc tacgcactgt atggcagtgc
      721 caccatgctg gtccttgcca tggactgtgg ggtcaactgc ttcatgctgg acccggccat
      781 cggggagttc attttggtgg acaaggatgt gaagataaaa aagaaaggta aaatctacag
      841 ccttaacgag ggctacgcca gggactttga ccctgccgtc actgagtaca tccagaggaa
      901 gaagttcccc ccagataatt cagctcctta tggggcccgg tatgtgggct ccatggtggc
      961 tgatgttcat cgcactctgg tctacggagg gatatttctg taccccgcta acaagaagag
     1021 ccccaatgga aagctgagac tgctgtacga atgcaacccc atggcctacg tcatggagaa
     1081 ggctggggga atggccacca ctgggaagga ggccgtgtta gacgtcattc ccacagacat
     1141 tcaccagagg gcgccggtga tcttgggatc ccccgacgac gtgctcgagt tcctgaaggt
     1201 gtatgagaag cactctgccc agtgagcacc tgccctgcct gcatccggag aattgcctct
     1261 acctggacct tttgtctcac acagcagtac cctgacctgc tgtgcacctt acattcctag
     1321 agagcagaaa taaaaagcat gactatttcc accatcaaat gctgtagaat gcttggcact
     1381 ccctaaccaa atgctgtctc cataatgcca ctggtgttaa gatatatttt gagtggatgg
     1441 aggagaaata aacttattcc tccttaaaaa aaa
//
LOCUS       NM_000511               3116 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens fucosyltransferase 2 (FUT2), transcript variant 1,
            mRNA.
ACCESSION   NM_000511
VERSION     NM_000511.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3116)
  AUTHORS   Jiang F, Boakye D, Sun J, Wang L, Yu L, Zhou X, Zhao J, Bian Z, Song
            P, He Y, Zhu Y, Chen J, Yuan S, Song M, Larsson SC, Giovannucci EL,
            Theodoratou E, Ding K and Li X.
  TITLE     Association between antibiotic use during early life and early-onset
            colorectal cancer risk overall and according to polygenic risk and
            FUT2 genotypes
  JOURNAL   Int J Cancer 153 (9), 1602-1611 (2023)
   PUBMED   37504220
  REMARK    GeneRIF: Association between antibiotic use during early life and
            early-onset colorectal cancer risk overall and according to
            polygenic risk and FUT2 genotypes.
REFERENCE   2  (bases 1 to 3116)
  AUTHORS   Kim J, Yuan C, Amundadottir LT, Wolpin BM, Klein AP, Risch HA and
            Kraft P.
  CONSRTM   Pancreatic Cancer Cohort Consortium (PanScan); Pancreatic Cancer
            Case-Control Consortium (PanC4)
  TITLE     Relationship between ABO Blood Group Alleles and Pancreatic Cancer
            Is Modulated by Secretor (FUT2) Genotype, but Not Lewis Antigen
            (FUT3) Genotype
  JOURNAL   Cancer Epidemiol Biomarkers Prev 32 (9), 1242-1248 (2023)
   PUBMED   37342060
  REMARK    GeneRIF: Relationship between ABO Blood Group Alleles and Pancreatic
            Cancer Is Modulated by Secretor (FUT2) Genotype, but Not Lewis
            Antigen (FUT3) Genotype.
REFERENCE   3  (bases 1 to 3116)
  AUTHORS   Liu P, Liu J, Ding M, Liu Y, Zhang Y, Chen X and Zhou Z.
  TITLE     FUT2 promotes the tumorigenicity and metastasis of colorectal cancer
            cells via the Wnt/beta-catenin pathway
  JOURNAL   Int J Oncol 62 (3) (2023)
   PUBMED   36734282
  REMARK    GeneRIF: FUT2 promotes the tumorigenicity and metastasis of
            colorectal cancer cells via the Wnt/betacatenin pathway.
REFERENCE   4  (bases 1 to 3116)
  AUTHORS   Santos-Cortez RLP, Ong KMC, Carlos-Hiceta A, Tantoco MLC, Yarza TKL,
            San Agustin ML, Pedro M, Cruz TLG, Cutiongco-de la Paz EM, Abes GT,
            Llanes EGDV, Chan AL, Chiong CM and Reyes-Quintos MRT.
  TITLE     Audiologic Measures in an Indigenous Community with A2ML1- and
            FUT2-Related Otitis Media
  JOURNAL   Genet Test Mol Biomarkers 27 (1), 12-17 (2023)
   PUBMED   36719978
  REMARK    GeneRIF: Audiologic Measures in an Indigenous Community with A2ML1-
            and FUT2-Related Otitis Media.
REFERENCE   5  (bases 1 to 3116)
  AUTHORS   Fernandez-Mateos P, Cailleau A, Henry S, Costache M, Elmgren A,
            Svensson L, Larson G, Samuelsson BE, Oriol R and Mollicone R.
  TITLE     Point mutations and deletion responsible for the Bombay H null and
            the Reunion H weak blood groups
  JOURNAL   Vox Sang 75 (1), 37-46 (1998)
   PUBMED   9745152
REFERENCE   6  (bases 1 to 3116)
  AUTHORS   Kudo T, Iwasaki H, Nishihara S, Shinya N, Ando T, Narimatsu I and
            Narimatsu H.
  TITLE     Molecular genetic analysis of the human Lewis histo-blood group
            system. II. Secretor gene inactivation by a novel single missense
            mutation A385T in Japanese nonsecretor individuals
  JOURNAL   J Biol Chem 271 (16), 9830-9837 (1996)
   PUBMED   8621666
REFERENCE   7  (bases 1 to 3116)
  AUTHORS   Kelly RJ, Rouquier S, Giorgi D, Lennon GG and Lowe JB.
  TITLE     Sequence and expression of a candidate for the human Secretor blood
            group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an
            enzyme-inactivating nonsense mutation commonly correlates with the
            non-secretor phenotype
  JOURNAL   J Biol Chem 270 (9), 4640-4649 (1995)
   PUBMED   7876235
REFERENCE   8  (bases 1 to 3116)
  AUTHORS   Rouquier S, Lowe JB, Kelly RJ, Fertitta AL, Lennon GG and Giorgi D.
  TITLE     Molecular cloning of a human genomic region containing the H blood
            group alpha(1,2)fucosyltransferase gene and two H locus-related DNA
            restriction fragments. Isolation of a candidate for the human
            Secretor blood group locus
  JOURNAL   J Biol Chem 270 (9), 4632-4639 (1995)
   PUBMED   7876234
REFERENCE   9  (bases 1 to 3116)
  AUTHORS   Reguigne-Arnould I, Couillin P, Mollicone R, Faure S, Fletcher A,
            Kelly RJ, Lowe JB and Oriol R.
  TITLE     Relative positions of two clusters of human
            alpha-L-fucosyltransferases in 19q (FUT1-FUT2) and 19p
            (FUT6-FUT3-FUT5) within the microsatellite genetic map of chromosome
            19
  JOURNAL   Cytogenet Cell Genet 71 (2), 158-162 (1995)
   PUBMED   7656588
REFERENCE   10  (bases 1 to 3116)
  AUTHORS   Ball SP, Tongue N, Gibaud A, Le Pendu J, Mollicone R, Gerard G and
            Oriol R.
  TITLE     The human chromosome 19 linkage group FUT1 (H), FUT2 (SE), LE, LU,
            PEPD, C3, APOC2, D19S7 and D19S9
  JOURNAL   Ann Hum Genet 55 (3), 225-233 (1991)
   PUBMED   1763885
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AY751739.1, SRR1803615.215820.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
            variant(s)
            MANE Ensembl match       :: ENST00000425340.3/ ENSP00000387498.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA918525.1, D87942.1 and
            AC008888.7.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000511.5.
            Summary: This gene is one of two encoding the galactoside
            2-L-fucosyltransferase enzyme. The encoded protein is important for
            the final step in the soluble ABO blood group antigen synthesis
            pathway. It is also involved in cell-cell interaction, cell surface
            expression, and cell proliferation. Mutations in this gene are a
            cause of the H-Bombay blood group where red blood cells lack the H
            antigen. [provided by RefSeq, May 2022].
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 both encode the same protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Sequence Note: This RefSeq record represents the SE*01.01.01
            allele.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3116
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..3116
                     /gene="FUT2"
                     /gene_synonym="B12QTL1; SE; Se2; SEC2; sej"
                     /note="fucosyltransferase 2"
                     /db_xref="GeneID:2524"
                     /db_xref="HGNC:HGNC:4013"
                     /db_xref="MIM:182100"
     CDS             122..1153
                     /gene="FUT2"
                     /gene_synonym="B12QTL1; SE; Se2; SEC2; sej"
                     /EC_number="2.4.1.69"
                     /EC_number="2.4.1.344"
                     /note="galactoside 2-alpha-L-fucosyltransferase 2;
                     GDP-L-fucose:beta-D-galactoside
                     2-alpha-L-fucosyltransferase 2; alpha(1,2)FT2; secretor
                     factor; secretor blood group alpha-2-fucosyltransferase;
                     alpha (1,2) fucosyltransferase; alpha(1,2)FT 2;
                     fucosyltransferase 2 (secretor status included);
                     galactoside 2-L-fucosyltransferase; type 1 galactoside
                     alpha-(1,2)-fucosyltransferase FUT2; type 2 galactoside
                     alpha-(1,2)-fucosyltransferase FUT2"
                     /codon_start=1
                     /product="galactoside alpha-(1,2)-fucosyltransferase 2"
                     /protein_id="NP_000502.4"
                     /db_xref="CCDS:CCDS33069.1"
                     /db_xref="GeneID:2524"
                     /db_xref="HGNC:HGNC:4013"
                     /db_xref="MIM:182100"
                     /translation="MLVVQMPFSFPMAHFILFVFTVSTIFHVQQRLAKIQAMWELPVQI
                     PVLASTSKALGPSQLRGMWTINAIGRLGNQMGEYATLYALAKMNGRPAFIPAQMHSTLA
                     PIFRITLPVLHSATASRIPWQNYHLNDWMEEEYRHIPGEYVRFTGYPCSWTFYHHLRQE
                     ILQEFTLHDHVREEAQKFLRGLQVNGSRPGTFVGVHVRRGDYVHVMPKVWKGVVADRRY
                     LQQALDWFRARYSSLIFVVTSNGMAWCRENIDTSHGDVVFAGDGIEGSPAKDFALLTQC
                     NHTIMTIGTFGIWAAYLTGGDTIYLANYTLPDSPFLKIFKPEAAFLPEWTGIAADLSPL
                     LKH"
     misc_feature    164..205
                     /gene="FUT2"
                     /gene_synonym="B12QTL1; SE; Se2; SEC2; sej"
                     /note="propagated from UniProtKB/Swiss-Prot (Q10981.1);
                     transmembrane region"
     misc_feature    683..685
                     /gene="FUT2"
                     /gene_synonym="B12QTL1; SE; Se2; SEC2; sej"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q10981.1); glycosylation site"
     misc_feature    965..967
                     /gene="FUT2"
                     /gene_synonym="B12QTL1; SE; Se2; SEC2; sej"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q10981.1); glycosylation site"
     misc_feature    1043..1045
                     /gene="FUT2"
                     /gene_synonym="B12QTL1; SE; Se2; SEC2; sej"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q10981.1); glycosylation site"
     regulatory      3078..3083
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FUT2"
                     /gene_synonym="B12QTL1; SE; Se2; SEC2; sej"
                     /note="hexamer: AATAAA"
     regulatory      3086..3091
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FUT2"
                     /gene_synonym="B12QTL1; SE; Se2; SEC2; sej"
                     /note="hexamer: AATAAA"
     polyA_site      3096
                     /gene="FUT2"
                     /gene_synonym="B12QTL1; SE; Se2; SEC2; sej"
                     /note="major polyA site"
     polyA_site      3116
                     /gene="FUT2"
                     /gene_synonym="B12QTL1; SE; Se2; SEC2; sej"
ORIGIN
        1 agtcaccgat gctggaaggg tttctttggc cctgagtgaa gagagaccca gagggaacac
       61 tgaggtgcct gcccaaccac tctgtcccgg tttccttcag caggaccagg tgagagaagc
      121 catgctggtc gttcagatgc ctttctcctt tcccatggcc cacttcatcc tctttgtctt
      181 tacggtttcc actatatttc acgttcagca gcggctagcg aagattcaag ccatgtggga
      241 gttaccggtg cagataccag tgctagcctc aacatcaaag gcactgggac ccagccagct
      301 cagggggatg tggacgatca atgcaatagg ccgcctgggg aaccagatgg gcgagtacgc
      361 cacactgtac gccctggcca agatgaacgg gcggcccgcc ttcatcccgg cccagatgca
      421 cagcaccctg gcccccatct tcagaatcac cctgccggtg ctgcacagcg ccacggccag
      481 caggatcccc tggcagaact accacctgaa cgactggatg gaggaggaat accgccacat
      541 cccgggggag tacgtccgct tcaccggcta cccctgctcc tggaccttct accaccacct
      601 ccgccaggag atcctccagg agttcaccct gcacgaccac gtgcgggagg aggcccagaa
      661 gttcctgcgg ggcctgcagg tgaacgggag ccggccgggc acctttgtag gggtccatgt
      721 tcgccgaggg gactatgtcc atgtcatgcc aaaagtgtgg aagggggtgg tggccgaccg
      781 gcgataccta cagcaggccc tggactggtt ccgagctcgc tacagctccc tcatcttcgt
      841 ggtcaccagt aatggcatgg cctggtgtcg ggagaacatt gacacctccc acggtgatgt
      901 ggtgtttgct ggcgatggca ttgagggctc acctgccaaa gattttgctc tactcacaca
      961 gtgtaaccac accatcatga ccattgggac gttcgggatc tgggccgcat acctcacggg
     1021 cggagacacc atctacctgg ccaattacac cctccccgac tcccctttcc tcaaaatctt
     1081 taagccagag gcagccttcc tgccggagtg gacagggatt gccgcagacc tgtccccctt
     1141 actcaagcac taatgctggc ccattctttg agaccttttc tccttctctg cctccctcaa
     1201 gatgagtgcc cgggcatgag aagcacatgg ttccatgagc aggacccatc tctcttctgt
     1261 gaagatgcgt tgggctgcaa gtaacagaaa tctcagtgaa cagtggcctg gcgtggtggc
     1321 tcatgcctgt aatgctcgca ctttgtgagg ccagggtggg tggatcactt gaggtcagga
     1381 gttcaagact agcctggcca acatggtgaa accccatctc gactaaaaat acaaaaatta
     1441 gccaggcgtg gtggtgcaca cctgtaatcc cagctactcg ggaggctgag gcaagagaat
     1501 cacttgaacc caggaggcgg aggttgcagt gagccaagat ggtgccgctg cactccagtc
     1561 tgggtgacac agcaagactc catctcaaaa aaaaaaaaaa aaaaaagaaa agaaaaagaa
     1621 atgaatgggt tcaaagacca taatcatgca tatcacataa gaccagaagt ggcccaggtc
     1681 cagggtcagt taatttagcg gctccacaaa gtcatcagtc acctgagctc catccatctt
     1741 cacatgctgt gctaccattt cttagctgta tcatcccatg gtcccaaaag ggctgctaca
     1801 catccagcca tcacatgcag ataattcctt tcaaaaacag cagaaagagg ctcgttcttg
     1861 tcttggtccc ttttgaagaa tgaatgaaac cttcctaagc cttccagcaa tttcccccca
     1921 actccgatgg gtaggaattg tcacataccc atgtgacccg ataggaggca aaagaaatga
     1981 gacttctggg attagtttag cctcagattc tgcagctgag aagttgatca gccacctctg
     2041 aaggacatgc agcttgcaga aaattagggt ggtgttacca aggtgaaaag gggaaatggc
     2101 tttagagtag acaacagaga tgccctgagg ggttgtgtag gttgttcact gcaggaagtc
     2161 ccctggttaa gaaggcaagt ggggtttaaa cagacccaca gtctactcat caaaccaggt
     2221 gtccttggca ttgtgtccac ccagagagct cactgttttc ttttcttttt cttttctttt
     2281 tttttttttt tttgagatgg agtcttgctg catcccccag gctggagtgc agtggcatga
     2341 tcttggctca ctgcagcctc cgcctcccag gttcaagcga ttctcctgcc tcagcctccc
     2401 gagtagctag gattacaggt gcgtgccacc acgcccagct aatttttata tgtttagtgg
     2461 aaatggagtt tcaccatgtt ggtcaggctg gtctcaaact cctgacctca tgatccgcct
     2521 tcctcggcct cccaaagtgc tgggattaca ggtgttagcc actgcgcccg gccctagagc
     2581 tcactgtttt ctagttagtc catctggaag tggagccttt ttccagtttg cacaaatgtg
     2641 ccatattggc ttgtagctgg catgcatcca agtccatagg tcctgcctct tcaatcctgg
     2701 ctttctaggg cctgggatga tcattgctag aactgagaga ccagcctggc tcagtgaact
     2761 tcagggcgtt ccgttcattc tttcagtaaa tgtttgcagc acatgtgtta catgtcaggc
     2821 agtgaaaccc cccacagcag ccttccctct cagaggatac atttgtaacc attacacagt
     2881 catcaaagga ataatttttt ttaatcacca gtgtgcatac agtcatggag ttgggtattc
     2941 ccagctacca gggaggctga ggtgggagga ttgcttgatg ccaggagtta gggaatatag
     3001 tgcaccgtga ttggacttgc gaatagccac tgcactgcgg cctggacgac gtagtgatac
     3061 cctgactctt ataaataaat aaatgaataa acacaattat gactttgcgg atggga
//
LOCUS       NM_000512               2344 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens galactosamine (N-acetyl)-6-sulfatase (GALNS),
            transcript variant 1, mRNA.
ACCESSION   NM_000512
VERSION     NM_000512.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2344)
  AUTHORS   Ghafoor S, Silveira KDC, Qamar R, Azam M and Kannu P.
  TITLE     Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn)
            Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous
            Family
  JOURNAL   Genes (Basel) 13 (10), 1743 (2022)
   PUBMED   36292628
  REMARK    GeneRIF: Exome Sequencing Identifies a Biallelic GALNS Variant
            (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani
            Consanguineous Family. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2344)
  AUTHORS   Sheth H, Naik P, Shah M, Bhavsar R, Nair A, Sheth F and Sheth J.
  TITLE     The GALNS p.P77R variant is a probable Gujarati-Indian founder
            mutation causing Mucopolysaccharidosis IVA syndrome
  JOURNAL   BMC Genomics 23 (1), 458 (2022)
   PUBMED   35729508
  REMARK    GeneRIF: The GALNS p.P77R variant is a probable Gujarati-Indian
            founder mutation causing Mucopolysaccharidosis IVA syndrome.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2344)
  AUTHORS   Yi M, Wang Y, Gao X, Han L, Qiu W, Gu X, Maegawa GHB and Zhang H.
  TITLE     Investigation of GALNS variants and genotype-phenotype correlations
            in a large cohort of patients with mucopolysaccharidosis type IVA
  JOURNAL   J Inherit Metab Dis 45 (3), 593-604 (2022)
   PUBMED   35212421
  REMARK    GeneRIF: Investigation of GALNS variants and genotype-phenotype
            correlations in a large cohort of patients with
            mucopolysaccharidosis type IVA.
REFERENCE   4  (bases 1 to 2344)
  AUTHORS   Frigeni M, Rodriguez-Buritica DF, Saavedra H, Gunther KA, Hillman
            PR, Balaguru D and Northrup H.
  TITLE     The youngest pair of siblings with Mucopolysaccharidosis type IVA to
            receive enzyme replacement therapy to date: A case report
  JOURNAL   Am J Med Genet A 185 (11), 3510-3516 (2021)
   PUBMED   34472180
  REMARK    GeneRIF: The youngest pair of siblings with Mucopolysaccharidosis
            type IVA to receive enzyme replacement therapy to date: A case
            report.
REFERENCE   5  (bases 1 to 2344)
  AUTHORS   Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH,
            Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A,
            Tonin R, Wood T, Morrone A and Tomanin R.
  TITLE     Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A
            review and classification of GALNS gene variants and reporting of 68
            novel variants
  JOURNAL   Hum Mutat 42 (11), 1384-1398 (2021)
   PUBMED   34387910
  REMARK    GeneRIF: Molecular basis of mucopolysaccharidosis IVA (Morquio A
            syndrome): A review and classification of GALNS gene variants and
            reporting of 68 novel variants. Review article
REFERENCE   6  (bases 1 to 2344)
  AUTHORS   Regier,D.S., Oetgen,M. and Tanpaiboon,P.
  TITLE     Mucopolysaccharidosis Type IVA
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   23844448
REFERENCE   7  (bases 1 to 2344)
  AUTHORS   Fukuda S, Tomatsu S, Masue M, Sukegawa K, Iwata H, Ogawa T,
            Nakashima Y, Hori T, Yamagishi A, Hanyu Y et al.
  TITLE     Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate
            sulfatase exonic point mutations in classical Morquio and mild cases
  JOURNAL   J Clin Invest 90 (3), 1049-1053 (1992)
   PUBMED   1522213
REFERENCE   8  (bases 1 to 2344)
  AUTHORS   Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori
            T, Iwata H, Ogawa T, Nakashima Y et al.
  TITLE     Morquio disease: isolation, characterization and expression of
            full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase
  JOURNAL   Biochem Biophys Res Commun 181 (2), 677-683 (1991)
   PUBMED   1755850
REFERENCE   9  (bases 1 to 2344)
  AUTHORS   Masue M, Sukegawa K, Orii T and Hashimoto T.
  TITLE     N-acetylgalactosamine-6-sulfate sulfatase in human placenta:
            purification and characteristics
  JOURNAL   J Biochem 110 (6), 965-970 (1991)
   PUBMED   1794986
REFERENCE   10  (bases 1 to 2344)
  AUTHORS   Bielicki J and Hopwood JJ.
  TITLE     Human liver N-acetylgalactosamine 6-sulphatase. Purification and
            characterization
  JOURNAL   Biochem J 279 (Pt 2) (Pt 2), 515-520 (1991)
   PUBMED   1953646
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC056151.1, SRR11853565.11629.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000268695.10/ ENSP00000268695.5
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC050684.1 and BC007825.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000512.4.
            Summary: This gene encodes N-acetylgalactosamine-6-sulfatase which
            is a lysosomal exohydrolase required for the degradation of the
            glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate.
            Sequence alterations including point, missense and nonsense
            mutations, as well as those that affect splicing, result in a
            deficiency of this enzyme. Deficiencies of this enzyme lead to
            Morquio A syndrome, a lysosomal storage disorder. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2344
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..2344
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /note="galactosamine (N-acetyl)-6-sulfatase"
                     /db_xref="GeneID:2588"
                     /db_xref="HGNC:HGNC:4122"
                     /db_xref="MIM:612222"
     CDS             71..1639
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /EC_number="3.1.6.4"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; chondroitinase; N-acetylgalactosamine-6-sulfatase;
                     galactosamine (N-acetyl)-6-sulfate sulfatase; galNAc6S
                     sulfatase; chondroitinsulfatase; galactose-6-sulfate
                     sulfatase; N-acetylgalactosamine-6-sulfate sulfatase"
                     /codon_start=1
                     /product="N-acetylgalactosamine-6-sulfatase isoform 1
                     precursor"
                     /protein_id="NP_000503.1"
                     /db_xref="CCDS:CCDS10970.1"
                     /db_xref="GeneID:2588"
                     /db_xref="HGNC:HGNC:4122"
                     /db_xref="MIM:612222"
                     /translation="MAAVVAATRWWQLLLVLSAAGMGASGAPQPPNILLLLMDDMGWGD
                     LGVYGEPSRETPNLDRMAAEGLLFPNFYSANPLCSPSRAALLTGRLPIRNGFYTTNAHA
                     RNAYTPQEIVGGIPDSEQLLPELLKKAGYVSKIVGKWHLGHRPQFHPLKHGFDEWFGSP
                     NCHFGPYDNKARPNIPVYRDWEMVGRYYEEFPINLKTGEANLTQIYLQEALDFIKRQAR
                     HHPFFLYWAVDATHAPVYASKPFLGTSQRGRYGDAVREIDDSIGKILELLQDLHVADNT
                     FVFFTSDNGAALISAPEQGGSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQVSHQLG
                     SIMDLFTTSLALAGLTPPSDRAIDGLNLLPTLLQGRLMDRPIFYYRGDTLMAATLGQHK
                     AHFWTWTNSWENFRQGIDFCPGQNVSGVTTHNLEDHTKLPLIFHLGRDPGERFPLSFAS
                     AEYQEALSRITSVVQQHQEALVPAQPQLNVCNWAVMNWAPPGCEKLGKCLTPPESIPKK
                     CLWSH"
     sig_peptide     71..148
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     149..1636
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /product="N-acetylgalactosamine-6-sulfatase isoform 1"
     misc_feature    149..1207
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /note="propagated from UniProtKB/Swiss-Prot (P34059.1);
                     Region: Catalytic domain"
     misc_feature    680..682
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22940367; propagated from
                     UniProtKB/Swiss-Prot (P34059.1); glycosylation site"
     misc_feature    1337..1339
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:22940367; propagated from
                     UniProtKB/Swiss-Prot (P34059.1); glycosylation site"
     regulatory      2306..2311
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /note="hexamer: AATAAA"
     polyA_site      2344
                     /gene="GALNS"
                     /gene_synonym="GalN6S; GALNAC6S; GAS; MPS4A"
                     /note="major polyA site"
ORIGIN
        1 agccggaagg gccggcggac gctcgctagg tcggctcgct ggccggggct ccgcggctcc
       61 cgtggttgcc atggcggcgg ttgtcgcggc gacgaggtgg tggcagctgt tgctggtgct
      121 cagcgccgcg gggatggggg cctcgggcgc cccgcagccc cccaacatcc tgctcctgct
      181 catggacgac atgggatggg gtgacctcgg ggtgtatgga gagccctcca gagagacccc
      241 gaatttggac cggatggctg cagaagggct gcttttccca aacttctatt ctgccaaccc
      301 tctgtgctcg ccatcgaggg cggcactgct cacaggacgg ctacccatcc gcaatggctt
      361 ctacaccacc aacgcccatg ccagaaacgc ctacacaccg caggagattg tgggcggcat
      421 cccagactcg gagcagctcc tgccggagct tctgaagaag gccggctacg tcagcaagat
      481 tgtcggcaag tggcatctgg gtcacaggcc ccagttccac cccctgaagc acggatttga
      541 tgagtggttt ggatccccca actgccactt tggaccttat gacaacaagg ccaggcccaa
      601 catccctgtg tacagggact gggagatggt tggcagatat tatgaagaat ttcctattaa
      661 tctgaagacg ggggaagcca acctcaccca gatctacctg caggaagccc tggacttcat
      721 taagagacag gcacggcacc accccttttt cctctactgg gctgtcgacg ccacgcacgc
      781 acccgtctat gcctccaaac ccttcttggg caccagtcag cgagggcggt atggagacgc
      841 cgtccgggag attgatgaca gcattgggaa gatactggag ctcctccaag acctgcacgt
      901 cgcggacaac accttcgtct tcttcacgtc ggacaacggc gctgccctca tttccgcccc
      961 cgaacaaggt ggcagcaacg gcccctttct gtgtgggaag cagaccacgt ttgaaggagg
     1021 gatgagggag cctgccctcg catggtggcc agggcacgtc actgcaggcc aggtgagcca
     1081 ccagctgggc agcatcatgg acctcttcac caccagcctg gcccttgcgg gcctgacgcc
     1141 gcccagcgac agggccattg atggcctcaa cctcctcccc accctcctgc agggccggct
     1201 gatggacagg cctatcttct attaccgtgg cgacacgctg atggcggcca ccctcgggca
     1261 gcacaaggct cacttctgga cctggaccaa ctcctgggag aacttcagac agggcattga
     1321 tttctgccct gggcagaacg tttcaggggt cacaactcac aatctggaag accacacgaa
     1381 gctgcccctg atcttccacc tgggacggga cccaggggag aggttccccc tcagctttgc
     1441 cagcgccgag taccaggagg ccctcagcag gatcacctcg gtcgtccagc agcaccagga
     1501 ggccttggtc cccgcgcagc cccagctcaa cgtgtgcaac tgggcggtca tgaactgggc
     1561 acctccgggc tgtgaaaagt tagggaagtg tctgacacct ccagaatcca ttcccaagaa
     1621 gtgcctctgg tcccactagc acctgcgcag actcaggcca ggcctagaat ctccggttgg
     1681 ccctgcaagt gcctggagga aggatggctc tggcctcggt cctcccccaa ccctgcccaa
     1741 gccagacaga cagcacctgc agacgcaggg ggactgcaca attccacctg cccaggacct
     1801 gaccctggcg tgtgcttggc cctcctcctc gcccacggcg cctcagattt caggaccctc
     1861 ctcctcgccc acggcgcctc agacctcagg accctgccgt ctcacgcctt tgtgaacccc
     1921 aaatatctga gaccagtctc agtttatttt gccaaggtta aggatgcacc tgtgacagcc
     1981 tcaggaggtc ctgacaacag gtgcctgagg tggctgggga tacagtttgc ctttatacat
     2041 cttagggaga cacaagatca gtatgtgtat ggcgtacatt ggttcagtca gccttccact
     2101 gaatacacga ttgagtctgg cccagtgaat ccgcattttt atgtaaacag taagggaacg
     2161 gggcaatcat ataagcgttt gtctcagggg agccccagag ggatgacttc cagttccgtc
     2221 tgtcctttgt ccacaaggaa tttccctgga cgctaattat gagggaggcg tgtagcttct
     2281 tatcattgta actatgttat ttagaaataa aacgggaggc aggtttgcct aattcccagc
     2341 ttga
//
LOCUS       NM_000513               1998 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens opsin 1, medium wave sensitive (OPN1MW), mRNA.
ACCESSION   NM_000513
VERSION     NM_000513.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1998)
  AUTHORS   Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV,
            Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ,
            Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S,
            Dollfus H, Birch D, Vincent AL, Martorell L, Catala Mora J, Kellner
            U, Ruther K, Lorenz B, Preising MN, Manfredini E, Zarate YA,
            Vijzelaar R, Zrenner E, Jacobson SG and Kohl S.
  TITLE     The landscape of submicroscopic structural variants at the
            OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
  JOURNAL   Proc Natl Acad Sci U S A 119 (27), e2115538119 (2022)
   PUBMED   35759666
  REMARK    GeneRIF: The landscape of submicroscopic structural variants at the
            OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone
            monochromacy.
REFERENCE   2  (bases 1 to 1998)
  AUTHORS   Stingl K, Baumann B, De Angeli P, Vincent A, Heon E, Cordonnier M,
            De Baere E, Raskin S, Sato MT, Shiokawa N, Kohl S and Wissinger B.
  TITLE     Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in
            Patients with X-Linked Cone Dysfunction
  JOURNAL   Int J Mol Sci 23 (12), 6868 (2022)
   PUBMED   35743313
  REMARK    GeneRIF: Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing
            Defect in Patients with X-Linked Cone Dysfunction. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 1998)
  AUTHORS   Neitz M and Neitz J.
  TITLE     Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing
            Code Causing an Array of Vision Disorders
  JOURNAL   Genes (Basel) 12 (8), 1180 (2021)
   PUBMED   34440353
  REMARK    GeneRIF: Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic
            Splicing Code Causing an Array of Vision Disorders. Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1998)
  AUTHORS   Salom D, Jin H, Gerken TA, Yu C, Huang L and Palczewski K.
  TITLE     Human red and green cone opsins are O-glycosylated at an N-terminal
            Ser/Thr-rich domain conserved in vertebrates
  JOURNAL   J Biol Chem 294 (20), 8123-8133 (2019)
   PUBMED   30948514
  REMARK    GeneRIF: These results suggest that O-glycosylation is a fundamental
            feature of red and green cone opsins, which may be relevant to their
            function or to cone cell development, and that differences in this
            post-translational modification also could contribute to the
            different morphologies of rod and cone photoreceptors.
REFERENCE   5  (bases 1 to 1998)
  AUTHORS   Buena-Atienza E, Nasser F, Kohl S and Wissinger B.
  TITLE     A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene
            cluster in sporadic Blue Cone Monochromacy: a case report
  JOURNAL   BMC Med Genet 19 (1), 107 (2018)
   PUBMED   29940872
  REMARK    GeneRIF: Molecular genetic analysis of the OPN1LW/OPN1MW gene
            cluster revealed a novel deletion of about 73 kb in the patient
            encompassing the LCR. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1998)
  AUTHORS   Li ZY, Kljavin IJ and Milam AH.
  TITLE     Rod photoreceptor neurite sprouting in retinitis pigmentosa
  JOURNAL   J Neurosci 15 (8), 5429-5438 (1995)
   PUBMED   7643192
REFERENCE   7  (bases 1 to 1998)
  AUTHORS   Winderickx J, Sanocki E, Lindsey DT, Teller DY, Motulsky AG and Deeb
            SS.
  TITLE     Defective colour vision associated with a missense mutation in the
            human green visual pigment gene
  JOURNAL   Nat Genet 1 (4), 251-256 (1992)
   PUBMED   1302020
REFERENCE   8  (bases 1 to 1998)
  AUTHORS   Neitz J, Neitz M and Jacobs GH.
  TITLE     Analysis of fusion gene and encoded photopigment of colour-blind
            humans
  JOURNAL   Nature 342 (6250), 679-682 (1989)
   PUBMED   2574415
REFERENCE   9  (bases 1 to 1998)
  AUTHORS   Nathans,J., Thomas,D. and Hogness,D.S.
  TITLE     Molecular genetics of human color vision: the genes encoding blue,
            green, and red pigments
  JOURNAL   Science 232 (4747), 193-202 (1986)
   PUBMED   2937147
REFERENCE   10  (bases 1 to 1998)
  AUTHORS   Applebury,M.L. and Hargrave,P.A.
  TITLE     Molecular biology of the visual pigments
  JOURNAL   Vision Res 26 (12), 1881-1895 (1986)
   PUBMED   3303660
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC140938.1, BC143790.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000595290.6/ ENSP00000472316.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC244097.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 11, 2009 this sequence version replaced NM_000513.1.
            Summary: This gene encodes for a light absorbing visual pigment of
            the opsin gene family. The encoded protein is called green cone
            photopigment or medium-wavelength sensitive opsin. Opsins are
            G-protein coupled receptors with seven transmembrane domains, an
            N-terminal extracellular domain, and a C-terminal cytoplasmic
            domain. The long-wavelength opsin gene and multiple copies of the
            medium-wavelength opsin gene are tandemly arrayed on the X
            chromosome and frequent unequal recombination and gene conversion
            may occur between these sequences. X chromosomes may have fusions
            of the medium- and long-wavelength opsin genes or may have more
            than one copy of these genes. Defects in this gene are the cause of
            deutanopic colorblindness. [provided by RefSeq, Mar 2009].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1998
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1998
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /note="opsin 1, medium wave sensitive"
                     /db_xref="GeneID:2652"
                     /db_xref="HGNC:HGNC:4206"
                     /db_xref="MIM:300821"
     CDS             83..1177
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /note="green cone photoreceptor pigment; cone dystrophy 5
                     (X-linked); green cone pigment; green-sensitive opsin;
                     photopigment apoprotein; opsin 1 (cone pigments),
                     medium-wave-sensitive; Medium-wave-sensitive opsin 2; Opsin
                     1 cone pigments medium-wave-sensitive 2"
                     /codon_start=1
                     /product="medium-wave-sensitive opsin 1"
                     /protein_id="NP_000504.1"
                     /db_xref="CCDS:CCDS14743.1"
                     /db_xref="GeneID:2652"
                     /db_xref="HGNC:HGNC:4206"
                     /db_xref="MIM:300821"
                     /translation="MAQQWSLQRLAGRHPQDSYEDSTQSSIFTYTNSNSTRGPFEGPNY
                     HIAPRWVYHLTSVWMIFVVIASVFTNGLVLAATMKFKKLRHPLNWILVNLAVADLAETV
                     IASTISVVNQVYGYFVLGHPMCVLEGYTVSLCGITGLWSLAIISWERWMVVCKPFGNVR
                     FDAKLAIVGIAFSWIWAAVWTAPPIFGWSRYWPHGLKTSCGPDVFSGSSYPGVQSYMIV
                     LMVTCCITPLSIIVLCYLQVWLAIRAVAKQQKESESTQKAEKEVTRMVVVMVLAFCFCW
                     GPYAFFACFAAANPGYPFHPLMAALPAFFAKSATIYNPVIYVFMNRQFRNCILQLFGKK
                     VDDGSELSSASKTEVSSVSSVSPA"
     misc_feature    83..151
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    131..211
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     Region: Required for 11-cis-retinal regeneration.
                     /evidence=ECO:0000269|PubMed:30948514"
     misc_feature    182..184
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28402104; propagated from
                     UniProtKB/Swiss-Prot (P04001.1); glycosylation site"
     misc_feature    239..313
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     transmembrane region"
     misc_feature    350..427
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     transmembrane region"
     misc_feature    470..529
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     transmembrane region"
     misc_feature    587..658
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     transmembrane region"
     misc_feature    737..820
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     transmembrane region"
     misc_feature    887..958
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     transmembrane region"
     misc_feature    983..1057
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     transmembrane region"
     regulatory      1253..1258
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
     polyA_site      1283
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
     polyA_site      1998
                     /gene="OPN1MW"
                     /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1"
ORIGIN
        1 cccactggcc ggtataaagc accgtgaccc tcaggtgacg caccagggcc ggctgccgtc
       61 ggggacaggg ctttccatag ccatggccca gcagtggagc ctccaaaggc tcgcaggccg
      121 ccatccgcag gacagctatg aggacagcac ccagtccagc atcttcacct acaccaacag
      181 caactccacc agaggcccct tcgaaggccc gaattaccac atcgctccca gatgggtgta
      241 ccacctcacc agtgtctgga tgatctttgt ggtcattgca tccgtcttca caaatgggct
      301 tgtgctggcg gccaccatga agttcaagaa gctgcgccac ccgctgaact ggatcctggt
      361 gaacctggcg gtcgctgacc tggcagagac cgtcatcgcc agcactatca gcgttgtgaa
      421 ccaggtctat ggctacttcg tgctgggcca ccctatgtgt gtcctggagg gctacaccgt
      481 ctccctgtgt gggatcacag gtctctggtc tctggccatc atttcctggg agagatggat
      541 ggtggtctgc aagccctttg gcaatgtgag atttgatgcc aagctggcca tcgtgggcat
      601 tgccttctcc tggatctggg ctgctgtgtg gacagccccg cccatctttg gttggagcag
      661 gtactggccc cacggcctga agacttcatg cggcccagac gtgttcagcg gcagctcgta
      721 ccccggggtg cagtcttaca tgattgtcct catggtcacc tgctgcatca ccccactcag
      781 catcatcgtg ctctgctacc tccaagtgtg gctggccatc cgagcggtgg caaagcagca
      841 gaaagagtct gaatccaccc agaaggcaga gaaggaagtg acgcgcatgg tggtggtgat
      901 ggtcctggca ttctgcttct gctggggacc atacgccttc ttcgcatgct ttgctgctgc
      961 caaccctggc taccccttcc accctttgat ggctgccctg ccggccttct ttgccaaaag
     1021 tgccactatc tacaaccccg ttatctatgt ctttatgaac cggcagtttc gaaactgcat
     1081 cttgcagctt ttcgggaaga aggttgacga tggctctgaa ctctccagcg cctccaaaac
     1141 ggaggtctca tctgtgtcct cggtatcgcc tgcatgaggt ctgcctccta cccatcccgc
     1201 ccaccggggc tttggccacc tctcctttcc ccctccttct ccatccctgt aaaataaatg
     1261 taatttatct ttgccaaaac caacaaagtc acagaggctt tcactgcagt gtgggaccac
     1321 ctgagcctct gcgtgtgcag gcactgggtc tcgagagggt gcaaggggga taaagaggag
     1381 agagcgcttc atagacttta agttttcccg agcctcatgt ctaccgatgg cgtgaaagga
     1441 tcctggcaaa acagaagtgt gaggcaggtg ggcgtctata tccatttcac caggctggtg
     1501 gttacataat cggcaagcaa gagctgtgga ggggcttgct ggatgccctc agcacccagg
     1561 aggagggagg gagctagcaa gctaaggcag gtggccctcc tggcccctta aggtccatct
     1621 gctggaggcc cagagtcctt ggagtacagt ctacacctgg aggggaccca ttcctgccag
     1681 tctgtggcag ggatggcgcg ccacctctgc caggccagga ccccaagccc gatcagcatc
     1741 agcatggtgc aggtgcacag gcgtgagctg atcagtgacg aggggcaggc acacaaggtg
     1801 gagacaaaga ccaagaggac ggttgccagt gagaggcgcg gactcaggaa cttgaacaac
     1861 atctgcgggg gacggctttg gaggtgctcc gctgcctcca gttgggtgac ttgctgtagc
     1921 atctccagct tggatattcg gctcttgaag gtctccgtga tctcctgcag gagacgaaaa
     1981 tgcacgcacc agaagtca
//
LOCUS       NM_000514               4171 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens glial cell derived neurotrophic factor (GDNF),
            transcript variant 1, mRNA.
ACCESSION   NM_000514
VERSION     NM_000514.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4171)
  AUTHORS   Marshall P.
  TITLE     Finding an Optimal Level of GDNF Overexpression: Insights from
            Dopamine Cycling
  JOURNAL   Cell Mol Neurobiol 43 (7), 3179-3189 (2023)
   PUBMED   37410316
  REMARK    GeneRIF: Finding an Optimal Level of GDNF Overexpression: Insights
            from Dopamine Cycling. Review article
REFERENCE   2  (bases 1 to 4171)
  AUTHORS   Kakati RT, Kim H, Whitman A and Spanheimer PM.
  TITLE     High expression of the RET receptor tyrosine kinase and its ligand
            GDNF identifies a high-risk subset of estrogen receptor positive
            breast cancer
  JOURNAL   Breast Cancer Res Treat 199 (3), 589-601 (2023)
   PUBMED   37061618
  REMARK    GeneRIF: High expression of the RET receptor tyrosine kinase and its
            ligand GDNF identifies a high-risk subset of estrogen receptor
            positive breast cancer.
REFERENCE   3  (bases 1 to 4171)
  AUTHORS   Marks BA, Pipia IM, Mukai C, Horibata S, Rice EJ, Danko CG and
            Coonrod SA.
  TITLE     GDNF-RET signaling and EGR1 form a positive feedback loop that
            promotes tamoxifen resistance via cyclin D1
  JOURNAL   BMC Cancer 23 (1), 138 (2023)
   PUBMED   36765275
  REMARK    GeneRIF: GDNF-RET signaling and EGR1 form a positive feedback loop
            that promotes tamoxifen resistance via cyclin D1. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 4171)
  AUTHORS   Wang J, Gu S and Qin B.
  TITLE     Overexpression of microRNA-211 in Functional Dyspepsia via
            Downregulation of the Glial Cell Line-Derived Neurotrophic Factor
            (GDNF) by Increasing Phosphorylation of p38 MAPK Pathway
  JOURNAL   Can J Gastroenterol Hepatol 2022, 9394381 (2022)
   PUBMED   36569394
  REMARK    GeneRIF: Overexpression of microRNA-211 in Functional Dyspepsia via
            Downregulation of the Glial Cell Line-Derived Neurotrophic Factor
            (GDNF) by Increasing Phosphorylation of p38 MAPK Pathway.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4171)
  AUTHORS   Airavaara M, Pletnikova O, Doyle ME, Zhang YE, Troncoso JC and Liu
            QR.
  TITLE     Identification of novel GDNF isoforms and cis-antisense GDNFOS gene
            and their regulation in human middle temporal gyrus of Alzheimer
            disease
  JOURNAL   J Biol Chem 286 (52), 45093-45102 (2011)
   PUBMED   22081608
  REMARK    GeneRIF: Identification of novel GDNF isoforms and cis-antisense
            GDNFOS gene and their regulation in human middle temporal gyrus of
            Alzheimer disease
REFERENCE   6  (bases 1 to 4171)
  AUTHORS   Schindelhauer D, Schuffenhauer S, Gasser T, Steinkasserer A and
            Meitinger T.
  TITLE     The gene coding for glial cell line derived neurotrophic factor
            (GDNF) maps to chromosome 5p12-p13.1
  JOURNAL   Genomics 28 (3), 605-607 (1995)
   PUBMED   7490108
REFERENCE   7  (bases 1 to 4171)
  AUTHORS   Oppenheim RW, Houenou LJ, Johnson JE, Lin LF, Li L, Lo AC, Newsome
            AL, Prevette DM and Wang S.
  TITLE     Developing motor neurons rescued from programmed and axotomy-induced
            cell death by GDNF
  JOURNAL   Nature 373 (6512), 344-346 (1995)
   PUBMED   7830769
REFERENCE   8  (bases 1 to 4171)
  AUTHORS   Tomac A, Lindqvist E, Lin LF, Ogren SO, Young D, Hoffer BJ and Olson
            L.
  TITLE     Protection and repair of the nigrostriatal dopaminergic system by
            GDNF in vivo
  JOURNAL   Nature 373 (6512), 335-339 (1995)
   PUBMED   7830766
REFERENCE   9  (bases 1 to 4171)
  AUTHORS   Schaar DG, Sieber BA, Sherwood AC, Dean D, Mendoza G, Ramakrishnan
            L, Dreyfus CF and Black IB.
  TITLE     Multiple astrocyte transcripts encode nigral trophic factors in rat
            and human
  JOURNAL   Exp Neurol 130 (2), 387-393 (1994)
   PUBMED   7867768
REFERENCE   10  (bases 1 to 4171)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301612
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF053748.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000326524.7/ ENSP00000317145.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008869.5, AF053748.1 and
            AY052832.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000514.3.
            Summary: This gene encodes a secreted ligand of the TGF-beta
            (transforming growth factor-beta) superfamily of proteins. Ligands
            of this family bind various TGF-beta receptors leading to
            recruitment and activation of SMAD family transcription factors
            that regulate gene expression. The encoded preproprotein is
            proteolytically processed to generate each subunit of the
            disulfide-linked homodimer. The recombinant form of this protein, a
            highly conserved neurotrophic factor, was shown to promote the
            survival and differentiation of dopaminergic neurons in culture,
            and was able to prevent apoptosis of motor neurons induced by
            axotomy. This protein is a ligand for the product of the RET
            (rearranged during transfection) protooncogene. Mutations in this
            gene may be associated with Hirschsprung disease and Tourette
            syndrome. This gene encodes multiple protein isoforms that may
            undergo similar proteolytic processing. [provided by RefSeq, Aug
            2016].
            Transcript Variant: This variant (1) differs in the 5' UTR,
            represents use of an alternate promoter, and uses a downstream
            start codon, compared to variant 3. The resulting isoform (1) has a
            shorter N-terminus, compared to isoform 3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4171
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     gene            1..4171
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /note="glial cell derived neurotrophic factor"
                     /db_xref="GeneID:2668"
                     /db_xref="HGNC:HGNC:4232"
                     /db_xref="MIM:600837"
     CDS             562..1197
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; astrocyte-derived trophic factor; glial cell
                     line-derived neurotrophic factor"
                     /codon_start=1
                     /product="glial cell line-derived neurotrophic factor
                     isoform 1 preproprotein"
                     /protein_id="NP_000505.1"
                     /db_xref="CCDS:CCDS3922.1"
                     /db_xref="GeneID:2668"
                     /db_xref="HGNC:HGNC:4232"
                     /db_xref="MIM:600837"
                     /translation="MKLWDVVAVCLVLLHTASAFPLPAGKRPPEAPAEDRSLGRRRAPF
                     ALSSDSNMPEDYPDQFDDVMDFIQATIKRLKRSPDKQMAVLPRRERNRQAAAANPENSR
                     GKGRRGQRGKNRGCVLTAIHLNVTDLGLGYETKEELIFRYCSGSCDAAETTYDKILKNL
                     SRNRRLVSDKVGQACCRPIAFDDDLSFLDDNLVYHILRKHSAKRCGCI"
     sig_peptide     562..618
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    622..729
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P39905.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     793..1194
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /product="Glial cell line-derived neurotrophic factor.
                     /id=PRO_0000034005"
                     /note="propagated from UniProtKB/Swiss-Prot (P39905.1)"
     misc_feature    793..900
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P39905.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    937..939
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19478429; propagated from
                     UniProtKB/Swiss-Prot (P39905.1); glycosylation site"
     misc_feature    1045..1047
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P39905.1); glycosylation site"
     regulatory      4150..4155
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /note="hexamer: AATAAA"
     polyA_site      4171
                     /gene="GDNF"
                     /gene_synonym="ATF; ATF1; ATF2; HFB1-GDNF; HSCR3"
                     /note="major polyA site"
ORIGIN
        1 agcctgcgct cctggcgccc tcatgtcttc acgggactcc ccgcgccggt tgacgtggtg
       61 tctcgttcgg atctccaggc aagacctcag ctccggcagc agcatcagac aaaccagtct
      121 cgtgctccca ggcagtgcgc ccagaggagg cgcagagcgc ggcagctgcc gctgagccgc
      181 ccgcagcgcc ccgggcccgc gcagccccag ccaagagcgc gacgcgcgca gccctgtcag
      241 ccccccaccc aaagcagcgg cggctgctcg gacctcggct tctgggggtg cgggggcccg
      301 gcgggagagt tgccggcagc cctcgccctg ttggcggcgg cggcggcggg agtcttggcc
      361 gccgcctcca gcgcgccctt gctgccccgc gcgaccccag gattgcgaac tcttgcccct
      421 gacctgttgg gcggggctcc gcgctccagc catcagcccg gatgggtctc ctggctggga
      481 cttggggcac ctggagttaa tgtccaacct agggtctgcg gagacccgat ccgaggtgcc
      541 gccgccggac gggactttaa gatgaagtta tgggatgtcg tggctgtctg cctggtgctg
      601 ctccacaccg cgtccgcctt cccgctgccc gccggtaaga ggcctcccga ggcgcccgcc
      661 gaagaccgct ccctcggccg ccgccgcgcg cccttcgcgc tgagcagtga ctcaaatatg
      721 ccagaggatt atcctgatca gttcgatgat gtcatggatt ttattcaagc caccattaaa
      781 agactgaaaa ggtcaccaga taaacaaatg gcagtgcttc ctagaagaga gcggaatcgg
      841 caggctgcag ctgccaaccc agagaattcc agaggaaaag gtcggagagg ccagaggggc
      901 aaaaaccggg gttgtgtctt aactgcaata catttaaatg tcactgactt gggtctgggc
      961 tatgaaacca aggaggaact gatttttagg tactgcagcg gctcttgcga tgcagctgag
     1021 acaacgtacg acaaaatatt gaaaaactta tccagaaata gaaggctggt gagtgacaaa
     1081 gtagggcagg catgttgcag acccatcgcc tttgatgatg acctgtcgtt tttagatgat
     1141 aacctggttt accatattct aagaaagcat tccgctaaaa ggtgtggatg tatctgactc
     1201 cggctccaga gactgctgtg tattgcattc ctgctacagt gcaaagaaag ggaccaaggt
     1261 tcccaggaaa tgtttgccca gaatggaaga tgaggaccaa ggaggcggag gaggaggaag
     1321 aagaagagga ggaggaggag gaggaggagg aggaggagga aggcagccat catgggagcc
     1381 tggtagaggg agatccagct acagacaact ggacaggaga gagagaaaac agccctctgg
     1441 attctccagg atggcagccg atgtcactag aagctcaggg ctgatgttcc tggttggcta
     1501 ttgccaccat ttcagctgat acagtccacc atcactgatt accggcgcgg ttgcggtgga
     1561 tgcacttgaa ccaaaccagt gtatctcctg tgatttgttt tcatgtgtcc gaagacacca
     1621 gggaaacaga gatcctggtg ttgttccttg ttattacgtt ttactgctga aagtaagagg
     1681 tttatttttc tgtcactcag tggagacata ccctggaaag gagaggggaa aaaaaaagca
     1741 aagatacaag agataatcac ctttgcattt gaaagttgag gcccgaggtt tactacaacc
     1801 agcatttttg ccaacggttg gtgattgatt tccatcacgg tgtgtggggt gggaagaagt
     1861 tggctaggaa ccaaaaaggc tgtgctcatg attaaacaca aacctgaagg tatttccttt
     1921 atgtccttgg aaacaggaaa cgagttgtgg ttttcgccag cattcttgta ggagagaatc
     1981 ggggaaggcc ccgaactgcc cccgggcagg gagagcccct caggcctgtt ggtttacaga
     2041 gagacagatg ttacataacc agctccgttg atgcgtggtc accagtgacc agagaagcta
     2101 ctcgatgcaa tgcatctgtt tcagatacag aaatatagag aagatattta ttgaaattta
     2161 agttattgtt atttattacc gttcactaat gaatttctct tttttccctt atttattaaa
     2221 gtttcttttc aaaggtgcca aagtatatgt gctcgcaaaa tgcaaagaaa ggtgacaaaa
     2281 ggaaatttga attgggaaca agggtccatg cttttcaaag tattaaaaag ttttttgcca
     2341 ggcaaaaatc acttacttta cctttttaag aaaatttgtc attaattttc cccagatttc
     2401 agcatttttc ccaattttta tttgtggagc atctcaggca agcccccttt cctggagcag
     2461 cgtgcagaga ccactggcac ttgactttat ttcttccttg ctccattgct gaacagaaat
     2521 gtcgtgggct ccacttcctg ttgtctttaa gctcttagtc ccctccacgt atacctatct
     2581 gtactatgca taaccatatg tagaaaaggt tcagttcctt ttagtaggta gtcctggatt
     2641 taatgctgac ctaaaagtaa tgtcgacaat gctgtcaggt agctgccgtt ctaccgactc
     2701 cctccatccc tgcccaccca ctgccctccc gagaatatgc tggctgccca gtgcagcccg
     2761 ggagacacag gggccttcca gaggtagggt ctaccaggtc ctgtacaacc cctgggctgt
     2821 caccgggggt caacagctgc tgctcctata tacccaaaca cctgacagct ccctggggag
     2881 cagatggctg agaagggtgc tgaggaagcc atattgggac cagccacagc cacacacatg
     2941 gagcctcata cttaggagcg tgctgccttt aaatgaaggt ggtcggggcc agtgcagcgg
     3001 ctcacaccca taatcccaac actttggaaa gccaaggtgg gaggatctct tgaacccagg
     3061 agtttgagac cagcttgggc aacataggga gaccctgtct ctacagaaac tttaaaaatt
     3121 aggcaggcat gatggtgcac acctgtggtc ccagctactc aagaggctga aggaggatca
     3181 cttgagtcca gaaggtcgag gctgcagtga gctgtgatca tgccactgca ctccagccta
     3241 agtgacagtg cggtaccctg tctcaaaaaa aaaaaaaaaa aaaaaaagag gttggagcag
     3301 gaggaagcat aggggcggga acagccacct cctccatgcc ctagattgtg aatttatcgg
     3361 gcagccaaca catgtatgac acactaggcc ctgtattaca gcttgttacg catttcataa
     3421 aagggatttt cattaaggag ataatctatt actacctacc ttagtggcta ctagtataaa
     3481 actatgacag atttagcaat taaatgaaat actggcctcc atcaaataat catagtaaca
     3541 agaagcagca gttaccagac atctgatccc cttcccccaa aatacccaaa ttcttcatgg
     3601 ttctgccctt ctctgtcctt tctgctcccc ttgctcgcct gggaaatgga ggaaaggcct
     3661 tccctctcac actgtcttgg gatcttgctg agaattcaga ctgctcgaaa cagtgacaaa
     3721 ccccagccat ccagtcattc gtggagcaca atttggatgt ggccccaggg gcatctgtcc
     3781 cattcagaga accttggcag tgcgatggcc actgttccca ggcttcaacc tcagtgaccc
     3841 cccccaacaa ctccccatgg agagtccctg cccaaaaaag ctgtaggatc caaggggtgt
     3901 caatagctcg ttcccggcat cacctacaca ccacaagcag gttttaatgg aagcaagttg
     3961 ctccaccaaa tccacaaaag ggtaaagttt gtgatttttc tttatcattg cgatcaccat
     4021 ctgataccgt aaggagtgca cttgtttgga agttctgact tctctgatct gtcttggtcg
     4081 tttgtgttat aaaaccaaag ttctctacag actttatttt tgtacaatat cattttgtaa
     4141 ctttttacaa ataaaaactc atttctattg c
//
LOCUS       NM_000515                823 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.
ACCESSION   NM_000515
VERSION     NM_000515.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 823)
  AUTHORS   Fellinger P, Beiglbock H, Semmler G, Pfleger L, Smajis S,
            Baumgartner C, Gajdosik M, Marculescu R, Vila G, Winhofer Y, Scherer
            T, Trauner M, Kautzky-Willer A, Krssak M, Krebs M and Wolf P.
  TITLE     Increased GH/IGF-I Axis Activity Relates to Lower Hepatic Lipids and
            Phosphor Metabolism
  JOURNAL   J Clin Endocrinol Metab 108 (10), e989-e997 (2023)
   PUBMED   37104943
  REMARK    GeneRIF: Increased GH/IGF-I Axis Activity Relates to Lower Hepatic
            Lipids and Phosphor Metabolism.
REFERENCE   2  (bases 1 to 823)
  AUTHORS   Guevara-Aguirre J, Pena G, Acosta W, Pazmino G, Saavedra J, Soto L,
            Lescano D, Guevara A and Gavilanes AWD.
  TITLE     Cancer in growth hormone excess and growth hormone deficit
  JOURNAL   Endocr Relat Cancer 30 (10), e220402 (2023)
   PUBMED   37428642
  REMARK    GeneRIF: Cancer in growth hormone excess and growth hormone deficit.
            Review article Publication Status: Online-Only
REFERENCE   3  (bases 1 to 823)
  AUTHORS   Basu R and Kopchick JJ.
  TITLE     GH and IGF1 in cancer therapy resistance
  JOURNAL   Endocr Relat Cancer 30 (9), e220414 (2023)
   PUBMED   37283510
  REMARK    GeneRIF: GH and IGF1 in cancer therapy resistance. Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 823)
  AUTHORS   Jayant SS, Walia R, Gupta R, Pal R, Chaudhary S, Agrawal K, Rastogi
            A, Bhattacharya A, Dutta P, Bhadada SK and Bhansali A.
  TITLE     Autonomous growth hormone secretion due to McCune Albright syndrome
            in paediatric age group: an ominous triad
  JOURNAL   Endocrine 81 (1), 149-159 (2023)
   PUBMED   36877453
  REMARK    GeneRIF: Autonomous growth hormone secretion due to McCune Albright
            syndrome in paediatric age group: an ominous triad.
REFERENCE   5  (bases 1 to 823)
  AUTHORS   Ho KK, O'Sullivan AJ and Burt MG.
  TITLE     The physiology of growth hormone (GH) in adults: translational
            journey to GH replacement therapy
  JOURNAL   J Endocrinol 257 (2), e220197 (2023)
   PUBMED   36524723
  REMARK    GeneRIF: The physiology of growth hormone (GH) in adults:
            translational journey to GH replacement therapy. Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 823)
  AUTHORS   Akinci A, Kanaka C, Eble A, Akar N, Vidinlisan S and Mullis PE.
  TITLE     Isolated growth hormone (GH) deficiency type IA associated with a
            45-kilobase gene deletion within the human GH gene cluster
  JOURNAL   J Clin Endocrinol Metab 75 (2), 437-441 (1992)
   PUBMED   1322425
REFERENCE   7  (bases 1 to 823)
  AUTHORS   Estes PA, Cooke NE and Liebhaber SA.
  TITLE     A native RNA secondary structure controls alternative splice-site
            selection and generates two human growth hormone isoforms
  JOURNAL   J Biol Chem 267 (21), 14902-14908 (1992)
   PUBMED   1634529
REFERENCE   8  (bases 1 to 823)
  AUTHORS   de Vos AM, Ultsch M and Kossiakoff AA.
  TITLE     Human growth hormone and extracellular domain of its receptor:
            crystal structure of the complex
  JOURNAL   Science 255 (5042), 306-312 (1992)
   PUBMED   1549776
REFERENCE   9  (bases 1 to 823)
  AUTHORS   Roskam,W.G. and Rougeon,F.
  TITLE     Molecular cloning and nucleotide sequence of the human growth
            hormone structural gene
  JOURNAL   Nucleic Acids Res 7 (2), 305-320 (1979)
   PUBMED   386281
REFERENCE   10  (bases 1 to 823)
  AUTHORS   Martial,J.A., Hallewell,R.A., Baxter,J.D. and Goodman,H.M.
  TITLE     Human growth hormone: complementary DNA cloning and expression in
            bacteria
  JOURNAL   Science 205 (4406), 602-607 (1979)
   PUBMED   377496
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY613431.1, SRR5189667.317972.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2162568
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000323322.10/ ENSP00000312673.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AV749353.1 and BC090045.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000515.4.
            Summary: The protein encoded by this gene is a member of the
            somatotropin/prolactin family of hormones which play an important
            role in growth control. The gene, along with four other related
            genes, is located at the growth hormone locus on chromosome 17
            where they are interspersed in the same transcriptional
            orientation; an arrangement which is thought to have evolved by a
            series of gene duplications. The five genes share a remarkably high
            degree of sequence identity. Alternative splicing generates
            additional isoforms of each of the five growth hormones, leading to
            further diversity and potential for specialization. This particular
            family member is expressed in the pituitary but not in placental
            tissue as is the case for the other four genes in the growth
            hormone locus. Mutations in or deletions of the gene lead to growth
            hormone deficiency and short stature. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..823
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     gene            1..823
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /note="growth hormone 1"
                     /db_xref="GeneID:2688"
                     /db_xref="HGNC:HGNC:4261"
                     /db_xref="MIM:139250"
     CDS             64..717
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; pituitary growth hormone; somatotropin; growth hormone
                     B5"
                     /codon_start=1
                     /product="somatotropin isoform 1 precursor"
                     /protein_id="NP_000506.2"
                     /db_xref="CCDS:CCDS11653.1"
                     /db_xref="GeneID:2688"
                     /db_xref="HGNC:HGNC:4261"
                     /db_xref="MIM:139250"
                     /translation="MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHR
                     LHQLAFDTYQEFEEAYIPKEQKYSFLQNPQTSLCFSESIPTPSNREETQQKSNLELLRI
                     SLLLIQSWLEPVQFLRSVFANSLVYGASDSNVYDLLKDLEEGIQTLMGRLEDGSPRTGQ
                     IFKQTYSKFDTNSHNDDALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF"
     sig_peptide     64..141
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     142..714
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /product="Somatotropin. /id=PRO_0000032988"
                     /note="propagated from UniProtKB/Swiss-Prot (P01241.2)"
     misc_feature    457..459
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14997482; propagated from
                     UniProtKB/Swiss-Prot (P01241.2); phosphorylation site"
     misc_feature    589..591
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14997482; propagated from
                     UniProtKB/Swiss-Prot (P01241.2); phosphorylation site"
     regulatory      804..809
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /note="hexamer: AATAAA"
     polyA_site      823
                     /gene="GH1"
                     /gene_synonym="GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B;
                     IGHD2"
                     /note="major polyA site"
ORIGIN
        1 aaggatccca aggcccaact ccccgaacca ctcagggtcc tgtggacagc tcacctagct
       61 gcaatggcta caggctcccg gacgtccctg ctcctggctt ttggcctgct ctgcctgccc
      121 tggcttcaag agggcagtgc cttcccaacc attcccttat ccaggctttt tgacaacgct
      181 atgctccgcg cccatcgtct gcaccagctg gcctttgaca cctaccagga gtttgaagaa
      241 gcctatatcc caaaggaaca gaagtattca ttcctgcaga acccccagac ctccctctgt
      301 ttctcagagt ctattccgac accctccaac agggaggaaa cacaacagaa atccaaccta
      361 gagctgctcc gcatctccct gctgctcatc cagtcgtggc tggagcccgt gcagttcctc
      421 aggagtgtct tcgccaacag cctggtgtac ggcgcctctg acagcaacgt ctatgacctc
      481 ctaaaggacc tagaggaagg catccaaacg ctgatgggga ggctggaaga tggcagcccc
      541 cggactgggc agatcttcaa gcagacctac agcaagttcg acacaaactc acacaacgat
      601 gacgcactac tcaagaacta cgggctgctc tactgcttca ggaaggacat ggacaaggtc
      661 gagacattcc tgcgcatcgt gcagtgccgc tctgtggagg gcagctgtgg cttctagctg
      721 cccgggtggc atccctgtga cccctcccca gtgcctctcc tggccctgga agttgccact
      781 ccagtgccca ccagccttgt cctaataaaa ttaagttgca tca
//
LOCUS       NM_000516               1854 bp    mRNA    linear   PRI 02-MAY-2023
DEFINITION  Homo sapiens GNAS complex locus (GNAS), transcript variant 1, mRNA.
ACCESSION   NM_000516
VERSION     NM_000516.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1854)
  AUTHORS   Tang J, Peng W, Ji J, Peng C, Wang T, Yang P, Gu J, Feng Y, Jin K,
            Wang X and Sun Y.
  TITLE     GPR176 Promotes Cancer Progression by Interacting with G Protein
            GNAS to Restrain Cell Mitophagy in Colorectal Cancer
  JOURNAL   Adv Sci (Weinh) 10 (12), e2205627 (2023)
   PUBMED   36905238
  REMARK    GeneRIF: GPR176 Promotes Cancer Progression by Interacting with G
            Protein GNAS to Restrain Cell Mitophagy in Colorectal Cancer.
REFERENCE   2  (bases 1 to 1854)
  AUTHORS   Crane JL, Shamblott MJ, Axelman J, Hsu S, Levine MA and Germain-Lee
            EL.
  TITLE     Imprinting status of Galpha(s), NESP55, and XLalphas in cell
            cultures derived from human embryonic germ cells: GNAS imprinting in
            human embryonic germ cells
  JOURNAL   Clin Transl Sci 2 (5), 355-360 (2009)
   PUBMED   20443919
  REMARK    GeneRIF: analysis of the imprinting Status of Galpha(s), NESP55, and
            XLalphas in cell cultures derived from human embryonic germ cells
REFERENCE   3  (bases 1 to 1854)
  AUTHORS   Bastepe M.
  TITLE     The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha,
            XLalphas, and other Imprinted Transcripts
  JOURNAL   Curr Genomics 8 (6), 398-414 (2007)
   PUBMED   19412439
  REMARK    GeneRIF: GNAS locus has a highly complex imprinted expression
            pattern, giving rise to transcripts (including non-coding) that are
            maternally, paternally, or biallelically expressed.
REFERENCE   4  (bases 1 to 1854)
  AUTHORS   Jakobsen AM, Ahlman H, Kolby L, Abrahamsson J, Fischer-Colbrie R and
            Nilsson O.
  TITLE     NESP55, a novel chromogranin-like peptide, is expressed in endocrine
            tumours of the pancreas and adrenal medulla but not in ileal
            carcinoids
  JOURNAL   Br J Cancer 88 (11), 1746-1754 (2003)
   PUBMED   12771991
  REMARK    GeneRIF: Neuroendocrine secretory protein 55 is found in a subset of
            neuroendocrine tumours showing differentiation towards adrenal
            chromaffin cells and pancreatic islets cells and not in ileal
            carcinoids
REFERENCE   5  (bases 1 to 1854)
  AUTHORS   Freson K, Jaeken J, Van Helvoirt M, de Zegher F, Wittevrongel C,
            Thys C, Hoylaerts MF, Vermylen J and Van Geet C.
  TITLE     Functional polymorphisms in the paternally expressed XLalphas and
            its cofactor ALEX decrease their mutual interaction and enhance
            receptor-mediated cAMP formation
  JOURNAL   Hum Mol Genet 12 (10), 1121-1130 (2003)
   PUBMED   12719376
REFERENCE   6  (bases 1 to 1854)
  AUTHORS   Weiss U, Ischia R, Eder S, Lovisetti-Scamihorn P, Bauer R and
            Fischer-Colbrie R.
  TITLE     Neuroendocrine secretory protein 55 (NESP55): alternative splicing
            onto transcripts of the GNAS gene and posttranslational processing
            of a maternally expressed protein
  JOURNAL   Neuroendocrinology 71 (3), 177-186 (2000)
   PUBMED   10729789
REFERENCE   7  (bases 1 to 1854)
  AUTHORS   Ischia R, Lovisetti-Scamihorn P, Hogue-Angeletti R, Wolkersdorfer M,
            Winkler H and Fischer-Colbrie R.
  TITLE     Molecular cloning and characterization of NESP55, a novel
            chromogranin-like precursor of a peptide with 5-HT1B receptor
            antagonist activity
  JOURNAL   J Biol Chem 272 (17), 11657-11662 (1997)
   PUBMED   9111083
REFERENCE   8  (bases 1 to 1854)
  AUTHORS   Haldeman-Englert,C.R., Hurst,A.C.E. and Levine,M.A.
  TITLE     Disorders of GNAS Inactivation
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   29072892
REFERENCE   9  (bases 1 to 1854)
  AUTHORS   Boyce,A.M., Florenzano,P., de Castro,L.F. and Collins,M.T.
  TITLE     Fibrous Dysplasia / McCune-Albright Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   25719192
REFERENCE   10  (bases 1 to 1854)
  AUTHORS   Weinstein LS, Gejman PV, de Mazancourt P, American N and Spiegel AM.
  TITLE     A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1)
            in a patient with Albright hereditary osteodystrophy
  JOURNAL   Genomics 13 (4), 1319-1321 (1992)
   PUBMED   1505964
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X04408.1, X07036.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            imprinted gene              :: PMID: 19412439
            MANE Ensembl match          :: ENST00000371085.8/ ENSP00000360126.3
            RefSeq Select criteria      :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU857975.1, AF493897.1,
            AF105253.1 and BC008855.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 19, 2020 this sequence version replaced NM_000516.6.
            Summary: This locus has a highly complex imprinted expression
            pattern. It gives rise to maternally, paternally, and biallelically
            expressed transcripts that are derived from four alternative
            promoters and 5' exons. Some transcripts contain a differentially
            methylated region (DMR) at their 5' exons, and this DMR is commonly
            found in imprinted genes and correlates with transcript expression.
            An antisense transcript is produced from an overlapping locus on
            the opposite strand. One of the transcripts produced from this
            locus, and the antisense transcript, are paternally expressed
            noncoding RNAs, and may regulate imprinting in this region. In
            addition, one of the transcripts contains a second overlapping ORF,
            which encodes a structurally unrelated protein - Alex. Alternative
            splicing of downstream exons is also observed, which results in
            different forms of the stimulatory G-protein alpha subunit, a key
            element of the classical signal transduction pathway linking
            receptor-ligand interactions with the activation of adenylyl
            cyclase and a variety of cellular reponses. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            Mutations in this gene result in pseudohypoparathyroidism type 1a,
            pseudohypoparathyroidism type 1b, Albright hereditary
            osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright
            syndrome, progressive osseus heteroplasia, polyostotic fibrous
            dysplasia of bone, and some pituitary tumors. [provided by RefSeq,
            Aug 2012].
            Transcript Variant: This variant (1) is biallelically expressed and
            encodes guanine nucleotide binding protein alpha s long (GNASL),
            also known as alpha-S2, a form of the G-protein alpha subunit.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1854
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.32"
     gene            1..1854
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /note="GNAS complex locus"
                     /db_xref="GeneID:2778"
                     /db_xref="HGNC:HGNC:4392"
                     /db_xref="MIM:139320"
     CDS             307..1491
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /note="isoform GNASL is encoded by transcript variant 1;
                     secretogranin VI; G protein subunit alpha S; guanine
                     nucleotide binding protein (G protein), alpha stimulating
                     activity polypeptide 1; guanine nucleotide regulatory
                     protein; adenylate cyclase-stimulating G alpha protein;
                     protein ALEX; extra large alphas protein; alternative gene
                     product encoded by XL-exon"
                     /codon_start=1
                     /product="protein GNAS isoform GNASL"
                     /protein_id="NP_000507.1"
                     /db_xref="CCDS:CCDS13472.1"
                     /db_xref="GeneID:2778"
                     /db_xref="HGNC:HGNC:4392"
                     /db_xref="MIM:139320"
                     /translation="MGCLGNSKTEDQRNEEKAQREANKKIEKQLQKDKQVYRATHRLLL
                     LGAGESGKSTIVKQMRILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIE
                     TIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRACY
                     ERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMF
                     DVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVIREDNQTNRLQEALNLFKSIWNNRW
                     LRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTTPEDATPEPGEDPRVTRAKYF
                     IRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL"
     misc_feature    307..375
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /note="propagated from UniProtKB/Swiss-Prot (P63092.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    430..471
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /note="propagated from UniProtKB/Swiss-Prot (P63092.1);
                     Region: G1 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01230"
     misc_feature    508..579
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /note="propagated from UniProtKB/Swiss-Prot (P63092.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    892..918
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /note="propagated from UniProtKB/Swiss-Prot (P63092.1);
                     Region: G2 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01230"
     misc_feature    961..990
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /note="propagated from UniProtKB/Swiss-Prot (P63092.1);
                     Region: G3 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01230"
     misc_feature    1168..1191
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /note="propagated from UniProtKB/Swiss-Prot (P63092.1);
                     Region: G4 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01230"
     misc_feature    1360..1362
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P63092.1); phosphorylation site"
     misc_feature    1396..1413
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /note="propagated from UniProtKB/Swiss-Prot (P63092.1);
                     Region: G5 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01230"
     regulatory      1829..1834
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /note="hexamer: AATAAA"
     regulatory      1836..1841
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /note="hexamer: ATTAAA"
     polyA_site      1851
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /note="major polyA site"
     polyA_site      1854
                     /gene="GNAS"
                     /gene_synonym="AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP;
                     PITA3; POH; SCG6; SgVI"
                     /note="major polyA site"
ORIGIN
        1 agcagctccc gcagctcctg ctctggtccg cctcggcccg gcggcggcca tcagccccct
       61 cggcctcggc tcgaggggcg gggagctgcg cgcgcccctc ggtccgaccg acaccctccc
      121 cttcccgccc gtccgcgcgc cccgcggccc gcggcccgca gtccgccccg cgcgctcctt
      181 gccgaggagc cgagcccgcg cccggcccgc ccgcccggcg ctgccccggc cctcccggcc
      241 cgcgtgaggc cgcccgcgcc cgccgccgcc gcagcccggc cgcgccccgc cgccgccgcc
      301 gccgccatgg gctgcctcgg gaacagtaag accgaggacc agcgcaacga ggagaaggcg
      361 cagcgtgagg ccaacaaaaa gatcgagaag cagctgcaga aggacaagca ggtctaccgg
      421 gccacgcacc gcctgctgct gctgggtgct ggagaatctg gtaaaagcac cattgtgaag
      481 cagatgagga tcctgcatgt taatgggttt aatggagagg gcggcgaaga ggacccgcag
      541 gctgcaagga gcaacagcga tggtgagaag gcaaccaaag tgcaggacat caaaaacaac
      601 ctgaaagagg cgattgaaac cattgtggcc gccatgagca acctggtgcc ccccgtggag
      661 ctggccaacc ccgagaacca gttcagagtg gactacatcc tgagtgtgat gaacgtgcct
      721 gactttgact tccctcccga attctatgag catgccaagg ctctgtggga ggatgaagga
      781 gtgcgtgcct gctacgaacg ctccaacgag taccagctga ttgactgtgc ccagtacttc
      841 ctggacaaga tcgacgtgat caagcaggct gactatgtgc cgagcgatca ggacctgctt
      901 cgctgccgtg tcctgacttc tggaatcttt gagaccaagt tccaggtgga caaagtcaac
      961 ttccacatgt ttgacgtggg tggccagcgc gatgaacgcc gcaagtggat ccagtgcttc
     1021 aacgatgtga ctgccatcat cttcgtggtg gccagcagca gctacaacat ggtcatccgg
     1081 gaggacaacc agaccaaccg cctgcaggag gctctgaacc tcttcaagag catctggaac
     1141 aacagatggc tgcgcaccat ctctgtgatc ctgttcctca acaagcaaga tctgctcgct
     1201 gagaaagtcc ttgctgggaa atcgaagatt gaggactact ttccagaatt tgctcgctac
     1261 actactcctg aggatgctac tcccgagccc ggagaggacc cacgcgtgac ccgggccaag
     1321 tacttcattc gagatgagtt tctgaggatc agcactgcca gtggagatgg gcgtcactac
     1381 tgctaccctc atttcacctg cgctgtggac actgagaaca tccgccgtgt gttcaacgac
     1441 tgccgtgaca tcattcagcg catgcacctt cgtcagtacg agctgctcta agaagggaac
     1501 ccccaaattt aattaaagcc ttaagcacaa ttaattaaaa gtgaaacgta attgtacaag
     1561 cagttaatca cccaccatag ggcatgatta acaaagcaac ctttcccttc ccccgagtga
     1621 ttttgcgaaa cccccttttc ccttcagctt gcttagatgt tccaaattta gaaagcttaa
     1681 ggcggcctac agaaaaagga aaaaaggcca caaaagttcc ctctcacttt cagtaaaaat
     1741 aaataaaaca gcagcagcaa acaaataaaa tgaaataaaa gaaacaaatg aaataaatat
     1801 tgtgttgtgc agcattaaaa aaaatcaaaa taaaaattaa atgtgagcaa agaa
//
LOCUS       NM_000517                576 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens hemoglobin subunit alpha 2 (HBA2), mRNA.
ACCESSION   NM_000517
VERSION     NM_000517.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 576)
  AUTHORS   Ren ZM, Li WJ, Xing ZH, Fu XY, Zhang JY, Chen YS and Li DF.
  TITLE     Detecting rare thalassemia in children with anemia using
            third-generation sequencing
  JOURNAL   Hematology 28 (1), 2241226 (2023)
   PUBMED   37548329
  REMARK    GeneRIF: Detecting rare thalassemia in children with anemia using
            third-generation sequencing.
REFERENCE   2  (bases 1 to 576)
  AUTHORS   Li Y, Liang S, Liang L, Zheng L and Lu X.
  TITLE     Hematological and molecular characteristics of a novel alpha-globin
            variant Hb Liangqing (HBA2:c.224A>G)
  JOURNAL   Hematology 28 (1), 2213545 (2023)
   PUBMED   37213176
  REMARK    GeneRIF: Hematological and molecular characteristics of a novel
            alpha-globin variant Hb Liangqing (HBA2:c.224A>G).
REFERENCE   3  (bases 1 to 576)
  AUTHORS   Tang B, Wang J, Qin D, Yao C, Chen K, Liang L, Chai H, Guo H and Du
            L.
  TITLE     Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant
            found in a Chinese family
  JOURNAL   Hematology 28 (1), 2187154 (2023)
   PUBMED   36939273
  REMARK    GeneRIF: Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable
            variant found in a Chinese family.
REFERENCE   4  (bases 1 to 576)
  AUTHORS   Bao X, Wang J, Qin D, Yao C, Liang J, Liang K, Zeng Y and Du L.
  TITLE     Identification of four novel large deletions and complex variants in
            the alpha-globin locus in Chinese population
  JOURNAL   Hum Genomics 17 (1), 38 (2023)
   PUBMED   37098594
  REMARK    GeneRIF: Identification of four novel large deletions and complex
            variants in the alpha-globin locus in Chinese population.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 576)
  AUTHORS   Ghassemifar R, Forster L, Qadah T and Finlayson J.
  TITLE     Identification and characterization of two novel and differentially
            expressed isoforms of human alpha2- and alpha1-globin genes
  JOURNAL   Hemoglobin 36 (5), 421-432 (2012)
   PUBMED   22738435
  REMARK    GeneRIF: This study, for the first time, confirms the presence of
            two isoforms for both the alpha2- and alpha1-globin genes with
            varying transcription levels in healthy individuals.
REFERENCE   6  (bases 1 to 576)
  AUTHORS   Tamary,H. and Dgany,O.
  TITLE     Alpha-Thalassemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301608
REFERENCE   7  (bases 1 to 576)
  AUTHORS   Liebhaber,S.A., Goossens,M.J. and Kan,Y.W.
  TITLE     Cloning and complete nucleotide sequence of human 5'-alpha-globin
            gene
  JOURNAL   Proc Natl Acad Sci U S A 77 (12), 7054-7058 (1980)
   PUBMED   6452630
REFERENCE   8  (bases 1 to 576)
  AUTHORS   Marinucci,M., Mavilio,F., Massa,A., Gabbianelli,M.,
            Fontanarosa,P.P., Camagna,A., Ignesti,C. and Tentori,L.
  TITLE     A new abnormal human hemoglobin: Hb Prato (alpha 2 31 (B12) Arg
            leads to Ser beta 2)
  JOURNAL   Biochim Biophys Acta 578 (2), 534-540 (1979)
   PUBMED   486536
REFERENCE   9  (bases 1 to 576)
  AUTHORS   Sanguansermsri,T., Matragoon,S., Changloah,L. and Flatz,G.
  TITLE     Hemoglobin Suan-Dok (alpha 2 109 (G16) Leu replaced by Arg beta 2):
            an unstable variant associated with alpha-thalassemia
  JOURNAL   Hemoglobin 3 (2-3), 161-174 (1979)
   PUBMED   478977
REFERENCE   10  (bases 1 to 576)
  AUTHORS   Moo-Penn,W.F., Jue,D.L., Johnson,M.H., Wilson,S.M., Therrell,B. Jr.
            and Schmidt,R.M.
  TITLE     Hemoglobin Tarrant: alpha126(H9) Asp leads to Asn. A new hemoglobin
            variant in the alpha1beta1 contact region showing high oxygen
            affinity and reduced cooperativity
  JOURNAL   Biochim Biophys Acta 490 (2), 443-451 (1977)
   PUBMED   13856
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AI816040.1, AI815806.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000251595.11/ ENSP00000251595.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from V00493.1, Z84721.1 and
            AI016696.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 3, 2018 this sequence version replaced NM_000517.5.
            Summary: The human alpha globin gene cluster located on chromosome
            16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta
            - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2
            (HBA2) and alpha-1 (HBA1) coding sequences are identical. These
            genes differ slightly over the 5' untranslated regions and the
            introns, but they differ significantly over the 3' untranslated
            regions. Two alpha chains plus two beta chains constitute HbA,
            which in normal adult life comprises about 97% of the total
            hemoglobin; alpha chains combine with delta chains to constitute
            HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3%
            of adult hemoglobin. Alpha thalassemias result from deletions of
            each of the alpha genes as well as deletions of both HBA2 and HBA1;
            some nondeletion alpha thalassemias have also been reported.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..576
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..576
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="hemoglobin subunit alpha 2"
                     /db_xref="GeneID:3040"
                     /db_xref="HGNC:HGNC:4824"
                     /db_xref="MIM:141850"
     CDS             38..466
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="alpha globin; alpha-2 globin; hemoglobin alpha
                     chain; mutant hemoglobin alpha 2 globin chain; hemoglobin,
                     alpha 2"
                     /codon_start=1
                     /product="hemoglobin subunit alpha"
                     /protein_id="NP_000508.1"
                     /db_xref="CCDS:CCDS10398.1"
                     /db_xref="GeneID:3040"
                     /db_xref="HGNC:HGNC:4824"
                     /db_xref="MIM:141850"
                     /translation="MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFP
                     HFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSH
                     CLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR"
     misc_feature    47..49
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    59..61
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="N-linked (Glc) (glycation) lysine, alternate.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); glycosylation site"
     misc_feature    62..67
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    62..64
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    71..73
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P69905.2); other
                     site"
     misc_feature    77..82
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    86..88
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="N-linked (Glc) (glycation) lysine, alternate.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); glycosylation site"
     misc_feature    86..88
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); acetylation site"
     misc_feature    110..115
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    110..112
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    125..130
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    143..145
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    158..160
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="N-linked (Glc) (glycation) lysine, alternate.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); glycosylation site"
     misc_feature    173..178
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    179..184
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    185..187
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    194..199
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    203..208
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    206..208
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P69905.2); other
                     site"
     misc_feature    215..220
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    218..220
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P69905.2); other
                     site"
     misc_feature    221..223
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); glycosylation site"
     misc_feature    308..310
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P69905.2); other
                     site"
     misc_feature    311..316
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     mat_peptide     323..349
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /product="Hemopressin.
                     /evidence=ECO:0000305|PubMed:18077343. /id=PRO_0000455882"
                     /note="propagated from UniProtKB/Swiss-Prot (P69905.2)"
     misc_feature    335..337
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P69905.2); other
                     site"
     misc_feature    344..346
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    356..361
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    362..367
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    362..364
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    401..406
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    410..412
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    431..433
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    437..442
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    440..442
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    449..451
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    452..454
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     regulatory      555..560
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="hexamer: AATAAA"
     polyA_site      573
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="major polyA site"
ORIGIN
        1 actcttctgg tccccacaga ctcagagaga acccaccatg gtgctgtctc ctgccgacaa
       61 gaccaacgtc aaggccgcct ggggtaaggt cggcgcgcac gctggcgagt atggtgcgga
      121 ggccctggag aggatgttcc tgtccttccc caccaccaag acctacttcc cgcacttcga
      181 cctgagccac ggctctgccc aggttaaggg ccacggcaag aaggtggccg acgcgctgac
      241 caacgccgtg gcgcacgtgg acgacatgcc caacgcgctg tccgccctga gcgacctgca
      301 cgcgcacaag cttcgggtgg acccggtcaa cttcaagctc ctaagccact gcctgctggt
      361 gaccctggcc gcccacctcc ccgccgagtt cacccctgcg gtgcacgcct ccctggacaa
      421 gttcctggct tctgtgagca ccgtgctgac ctccaaatac cgttaagctg gagcctcggt
      481 agccgttcct cctgcccgct gggcctccca acgggccctc ctcccctcct tgcaccggcc
      541 cttcctggtc tttgaataaa gtctgagtgg gcagca
//
LOCUS       NM_000518                628 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens hemoglobin subunit beta (HBB), mRNA.
ACCESSION   NM_000518
VERSION     NM_000518.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 628)
  AUTHORS   Ren ZM, Li WJ, Xing ZH, Fu XY, Zhang JY, Chen YS and Li DF.
  TITLE     Detecting rare thalassemia in children with anemia using
            third-generation sequencing
  JOURNAL   Hematology 28 (1), 2241226 (2023)
   PUBMED   37548329
  REMARK    GeneRIF: Detecting rare thalassemia in children with anemia using
            third-generation sequencing.
REFERENCE   2  (bases 1 to 628)
  AUTHORS   Novak W, Sunder-Plassmann R, Berner J, Kohrer S, Zeitlhofer P, Haas
            OA, Riedl J, Kager L and Sillaber C.
  TITLE     Dominant inherited beta-thalassemia intermedia in a Polish family
            due to a novel frameshift mutation in HBB
  JOURNAL   Pediatr Blood Cancer 70 (10), e30511 (2023)
   PUBMED   37353956
  REMARK    GeneRIF: Dominant inherited beta-thalassemia intermedia in a Polish
            family due to a novel frameshift mutation in HBB.
REFERENCE   3  (bases 1 to 628)
  AUTHORS   Tall FG, Mbancke SS, Ndour EHM, Ngom D and Joly P.
  TITLE     Clinical, Biochemical, and Hematological Presentation of a ss (+)
            Thalassemia due to the Poly A (T- > C) Mutation (HBB c.*110T > C
            (rs33978907)) Discovered in a Senegalese Family
  JOURNAL   J Appl Lab Med 8 (4), 821-825 (2023)
   PUBMED   37310050
  REMARK    GeneRIF: Clinical, Biochemical, and Hematological Presentation of a
            ss (+) Thalassemia due to the Poly A (T- > C) Mutation (HBB c.*110T
            > C (rs33978907)) Discovered in a Senegalese Family.
REFERENCE   4  (bases 1 to 628)
  AUTHORS   Al-Zebari S, Al-Allawi NA and Nerweyi F.
  TITLE     Beta Globin Gene Cluster Haplotypes in Beta Thalassemia in the
            Kurdistan Region of Iraq
  JOURNAL   Hemoglobin 47 (3), 111-117 (2023)
   PUBMED   37529858
  REMARK    GeneRIF: Beta Globin Gene Cluster Haplotypes in Beta Thalassemia in
            the Kurdistan Region of Iraq.
REFERENCE   5  (bases 1 to 628)
  AUTHORS   Calvo SE, Pagliarini DJ and Mootha VK.
  TITLE     Upstream open reading frames cause widespread reduction of protein
            expression and are polymorphic among humans
  JOURNAL   Proc Natl Acad Sci U S A 106 (18), 7507-7512 (2009)
   PUBMED   19372376
  REMARK    GeneRIF: Includes the study of a disease-related upstream ORF in
            this gene, and shows that it functions to reduce protein levels by
            ~70%.
REFERENCE   6  (bases 1 to 628)
  AUTHORS   Langer,A.L.
  TITLE     Beta-Thalassemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301599
REFERENCE   7  (bases 1 to 628)
  AUTHORS   Bender,M.A. and Carlberg,K.
  TITLE     Sickle Cell Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301551
REFERENCE   8  (bases 1 to 628)
  AUTHORS   Adams,J.G., Steinberg,M.H., Boxer,L.A., Baehner,R.L., Forget,B.G.
            and Tsistrakis,G.A.
  TITLE     The structure of hemoglobin Indianapolis [beta112(G14) arginine]. An
            unstable variant detectable only by isotopic labeling
  JOURNAL   J Biol Chem 254 (9), 3479-3482 (1979)
   PUBMED   429365
REFERENCE   9  (bases 1 to 628)
  AUTHORS   Marotta,C.A., Wilson,J.T., Forget,B.G. and Weissman,S.M.
  TITLE     Human beta-globin messenger RNA. III. Nucleotide sequences derived
            from complementary DNA
  JOURNAL   J Biol Chem 252 (14), 5040-5053 (1977)
   PUBMED   68958
REFERENCE   10  (bases 1 to 628)
  AUTHORS   Proudfoot,N.J.
  TITLE     Complete 3' noncoding region sequences of rabbit and human
            beta-globin messenger RNAs
  JOURNAL   Cell 10 (4), 559-570 (1977)
   PUBMED   67897
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BU662061.1, BU661647.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000335295.4/ ENSP00000333994.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK311825.1 and BU661647.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 13, 2018 this sequence version replaced NM_000518.4.
            Summary: The alpha (HBA) and beta (HBB) loci determine the
            structure of the 2 types of polypeptide chains in adult hemoglobin,
            Hb A. The normal adult hemoglobin tetramer consists of two alpha
            chains and two beta chains. Mutant beta globin causes sickle cell
            anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced
            amounts of detectable beta globin causes beta-plus-thalassemia. The
            order of the genes in the beta-globin cluster is 5'-epsilon --
            gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..628
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..628
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="hemoglobin subunit beta"
                     /db_xref="GeneID:3043"
                     /db_xref="HGNC:HGNC:4827"
                     /db_xref="MIM:141900"
     misc_feature    30..32
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="upstream in-frame stop codon"
     CDS             51..494
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="beta globin chain; hemoglobin, beta; hemoglobin beta
                     subunit"
                     /codon_start=1
                     /product="hemoglobin subunit beta"
                     /protein_id="NP_000509.1"
                     /db_xref="CCDS:CCDS7753.1"
                     /db_xref="GeneID:3043"
                     /db_xref="HGNC:HGNC:4827"
                     /db_xref="MIM:141900"
                     /translation="MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFES
                     FGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENF
                     RLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH"
     misc_feature    54..56
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="N-acetylvaline.
                     /evidence=ECO:0000250|UniProtKB:P02086; propagated from
                     UniProtKB/Swiss-Prot (P68871.2); acetylation site"
     misc_feature    54..56
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="N-linked (Glc) (glycation) valine, in Hb A1c.
                     /evidence=ECO:0000269|PubMed:635569; propagated from
                     UniProtKB/Swiss-Prot (P68871.2); glycosylation site"
     misc_feature    72..77
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    75..77
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P68871.2); glycosylation site"
     misc_feature    78..80
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P68871.2); phosphorylation site"
     misc_feature    87..89
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P68871.2); phosphorylation site"
     misc_feature    102..104
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P68871.2); glycosylation site"
     misc_feature    126..131
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    138..143
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     mat_peptide     147..176
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /product="LVV-hemorphin-7. /id=PRO_0000296641"
                     /note="propagated from UniProtKB/Swiss-Prot (P68871.2)"
     mat_peptide     147..167
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /product="Spinorphin. /id=PRO_0000424226"
                     /note="propagated from UniProtKB/Swiss-Prot (P68871.2)"
     misc_feature    156..161
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    162..167
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    183..185
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P68871.2); phosphorylation site"
     misc_feature    186..191
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    201..203
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P68871.2); phosphorylation site"
     misc_feature    207..212
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    219..224
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    228..230
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:4531009; propagated from
                     UniProtKB/Swiss-Prot (P68871.2); acetylation site"
     misc_feature    228..230
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P68871.2); other
                     site"
     misc_feature    249..251
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P68871.2); glycosylation site"
     misc_feature    264..269
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    273..278
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    297..299
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:4531009; propagated from
                     UniProtKB/Swiss-Prot (P68871.2); acetylation site"
     misc_feature    297..299
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P68871.2); other
                     site"
     misc_feature    303..308
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    312..314
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P68871.2); phosphorylation site"
     misc_feature    327..332
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    336..338
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P68871.2); other
                     site"
     misc_feature    363..368
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    381..386
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    408..413
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    411..413
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P68871.2); glycosylation site"
     misc_feature    417..422
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    435..440
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    471..476
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    483..488
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P68871.2); other site"
     misc_feature    483..485
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="N-linked (Glc) (glycation) lysine, alternate.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P68871.2); glycosylation site"
     misc_feature    483..485
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:4531009; propagated from
                     UniProtKB/Swiss-Prot (P68871.2); acetylation site"
     regulatory      602..607
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="hexamer: AATAAA"
     polyA_site      628
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="major polyA site"
ORIGIN
        1 acatttgctt ctgacacaac tgtgttcact agcaacctca aacagacacc atggtgcatc
       61 tgactcctga ggagaagtct gccgttactg ccctgtgggg caaggtgaac gtggatgaag
      121 ttggtggtga ggccctgggc aggctgctgg tggtctaccc ttggacccag aggttctttg
      181 agtcctttgg ggatctgtcc actcctgatg ctgttatggg caaccctaag gtgaaggctc
      241 atggcaagaa agtgctcggt gcctttagtg atggcctggc tcacctggac aacctcaagg
      301 gcacctttgc cacactgagt gagctgcact gtgacaagct gcacgtggat cctgagaact
      361 tcaggctcct gggcaacgtg ctggtctgtg tgctggccca tcactttggc aaagaattca
      421 ccccaccagt gcaggctgcc tatcagaaag tggtggctgg tgtggctaat gccctggccc
      481 acaagtatca ctaagctcgc tttcttgctg tccaatttct attaaaggtt cctttgttcc
      541 ctaagtccaa ctactaaact gggggatatt atgaagggcc ttgagcatct ggattctgcc
      601 taataaaaaa catttatttt cattgcaa
//
LOCUS       NM_000519                620 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens hemoglobin subunit delta (HBD), mRNA.
ACCESSION   NM_000519
VERSION     NM_000519.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 620)
  AUTHORS   Ren ZM, Li WJ, Xing ZH, Fu XY, Zhang JY, Chen YS and Li DF.
  TITLE     Detecting rare thalassemia in children with anemia using
            third-generation sequencing
  JOURNAL   Hematology 28 (1), 2241226 (2023)
   PUBMED   37548329
  REMARK    GeneRIF: Detecting rare thalassemia in children with anemia using
            third-generation sequencing.
REFERENCE   2  (bases 1 to 620)
  AUTHORS   Kalai M, Moumni I, Ouragini H, Ben Fraj I, Mellouli F, Ouederni M,
            Chaouachi D, Boudriga I and Menif S.
  TITLE     Molecular characterization of a novel homozygous deletion in
            beta-globin cluster causing (deltabeta)0-Thalassemia among Tunisian
            family
  JOURNAL   Ann Clin Biochem 60 (2), 81-85 (2023)
   PUBMED   36214153
  REMARK    GeneRIF: Molecular characterization of a novel homozygous deletion
            in beta-globin cluster causing (deltabeta)[0]-Thalassemia among
            Tunisian family.
REFERENCE   3  (bases 1 to 620)
  AUTHORS   Kasmi C, Amri Y, Hadj-Fredj S, Oueslati S, Dabboussi M, Mahjoub R,
            Hammami S, Aljane I, Mami FB, Jamoussi H, Messaoud T and Bibi A.
  TITLE     Analysis of delta-globin gene alleles in Tunisians: description of
            three new delta-thalassemia mutations
  JOURNAL   Mol Biol Rep 48 (8), 5923-5933 (2021)
   PUBMED   34341901
  REMARK    GeneRIF: Analysis of delta-globin gene alleles in Tunisians:
            description of three new delta-thalassemia mutations.
REFERENCE   4  (bases 1 to 620)
  AUTHORS   Singha K, Fucharoen G and Fucharoen S.
  TITLE     delta-Hemoglobinopathies in Thailand: screening, molecular basis,
            genotype-phenotype interaction, and implication for prevention and
            control of thalassemia
  JOURNAL   Ann Hematol 100 (8), 1953-1963 (2021)
   PUBMED   33834283
  REMARK    GeneRIF: delta-Hemoglobinopathies in Thailand: screening, molecular
            basis, genotype-phenotype interaction, and implication for
            prevention and control of thalassemia.
REFERENCE   5  (bases 1 to 620)
  AUTHORS   Porcu S, Simbula M, Marongiu MF, Perra A, Poddie D, Perseu L,
            Kowalik MA, Littera R, Barella S, Caria CA, Demartis FR and Ristaldi
            MS.
  TITLE     Delta-globin gene expression improves sickle cell disease in a
            humanised mouse model
  JOURNAL   Br J Haematol 193 (6), 1228-1237 (2021)
   PUBMED   34046885
  REMARK    GeneRIF: Delta-globin gene expression improves sickle cell disease
            in a humanised mouse model.
REFERENCE   6  (bases 1 to 620)
  AUTHORS   Lawn,R.M., Fritsch,E.F., Parker,R.C., Blake,G. and Maniatis,T.
  TITLE     The isolation and characterization of linked delta- and beta-globin
            genes from a cloned library of human DNA
  JOURNAL   Cell 15 (4), 1157-1174 (1978)
   PUBMED   728996
REFERENCE   7  (bases 1 to 620)
  AUTHORS   Braunitzer,G., Schrank,B., Stangl,A. and Grillemeier,M.
  TITLE     [Hemoglobin XXIII: note on the sequence of the delta-chains of human
            hemoglobin (author's transl)]
  JOURNAL   Hoppe Seylers Z Physiol Chem 359 (7), 777-783 (1978)
   PUBMED   680638
REFERENCE   8  (bases 1 to 620)
  AUTHORS   Rieder,R.F., Clegg,J.B., Weiss,H.J., Christy,N.P. and Rabinowitz,R.
  TITLE     Hemoglobin A2-Roosevelt: alpha 2 delta 2 20Val replaced by Glu
  JOURNAL   Biochim Biophys Acta 439 (2), 501-504 (1976)
   PUBMED   952968
REFERENCE   9  (bases 1 to 620)
  AUTHORS   Efremov,G.D., Rudivic,R., Niazi,G.A., Hunter,E. Jr., Huisman,T.H.
            and Schroeder,W.A.
  TITLE     An individual with Hb-Lepore-Baltimore- delta beta-thalassaemia in a
            Yugoslavian family
  JOURNAL   Scand J Haematol 16 (2), 81-89 (1976)
   PUBMED   1257702
REFERENCE   10  (bases 1 to 620)
  AUTHORS   Sharma,R.S., Williams,L., Wilson,J.B. and Huisman,T.H.
  TITLE     Hemoglobin-A2-Coburg or alpha2delta2116Arg leads to His (G18)
  JOURNAL   Biochim Biophys Acta 393 (2), 379-382 (1975)
   PUBMED   1148221
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.29352.1, BU663989.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2149004,
            SAMEA2154529 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000650601.1/ ENSP00000497529.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY034468.1, BC070282.1 and
            BU664913.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 7, 2018 this sequence version replaced NM_000519.3.
            Summary: The delta (HBD) and beta (HBB) genes are normally
            expressed in the adult: two alpha chains plus two beta chains
            constitute HbA, which in normal adult life comprises about 97% of
            the total hemoglobin. Two alpha chains plus two delta chains
            constitute HbA-2, which with HbF comprises the remaining 3% of
            adult hemoglobin. Five beta-like globin genes are found within a 45
            kb cluster on chromosome 11 in the following order:
            5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the
            delta-globin gene are associated with beta-thalassemia. [provided
            by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..620
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..620
                     /gene="HBD"
                     /note="hemoglobin subunit delta"
                     /db_xref="GeneID:3045"
                     /db_xref="HGNC:HGNC:4829"
                     /db_xref="MIM:142000"
     misc_feature    30..32
                     /gene="HBD"
                     /note="upstream in-frame stop codon"
     CDS             51..494
                     /gene="HBD"
                     /note="delta globin; delta-globin chain; hemoglobin delta
                     chain; hemoglobin, delta"
                     /codon_start=1
                     /product="hemoglobin subunit delta"
                     /protein_id="NP_000510.1"
                     /db_xref="CCDS:CCDS31376.1"
                     /db_xref="GeneID:3045"
                     /db_xref="HGNC:HGNC:4829"
                     /db_xref="MIM:142000"
                     /translation="MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFES
                     FGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENF
                     RLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH"
     misc_feature    54..56
                     /gene="HBD"
                     /note="N-acetylalanine, in variant Niigata.
                     /evidence=ECO:0000269|PubMed:1787103; propagated from
                     UniProtKB/Swiss-Prot (P02042.2); acetylation site"
     misc_feature    201..203
                     /gene="HBD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P02042.2); phosphorylation site"
     regulatory      600..605
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBD"
                     /note="hexamer: AATAAA"
     polyA_site      620
                     /gene="HBD"
                     /note="major polyA site"
ORIGIN
        1 acactttctt ctgacataac agtgttcact agcaacctca aacagacacc atggtgcatc
       61 tgactcctga ggagaagact gctgtcaatg ccctgtgggg caaagtgaac gtggatgcag
      121 ttggtggtga ggccctgggc agattactgg tggtctaccc ttggacccag aggttctttg
      181 agtcctttgg ggatctgtcc tctcctgatg ctgttatggg caaccctaag gtgaaggctc
      241 atggcaagaa ggtgctaggt gcctttagtg atggcctggc tcacctggac aacctcaagg
      301 gcactttttc tcagctgagt gagctgcact gtgacaagct gcacgtggat cctgagaact
      361 tcaggctctt gggcaatgtg ctggtgtgtg tgctggcccg caactttggc aaggaattca
      421 ccccacaaat gcaggctgcc tatcagaagg tggtggctgg tgtggctaat gccctggctc
      481 acaagtacca ttgagatcct ggactgtttc ctgataacca taagaagacc ctatttccct
      541 agattctatt ttctgaactt gggaacacaa tgcctacttc aagggtatgg cttctgccta
      601 ataaagaatg ttcagctcaa
//
LOCUS       NM_000520               4785 bp    mRNA    linear   PRI 26-MAR-2023
DEFINITION  Homo sapiens hexosaminidase subunit alpha (HEXA), transcript variant
            2, mRNA.
ACCESSION   NM_000520
VERSION     NM_000520.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4785)
  AUTHORS   Ibrahim DMA, Ali OSM, Nasr H, Fateen E and AbdelAleem A.
  TITLE     Biochemical and mutational analyses of HEXA in a cohort of Egyptian
            patients with infantile Tay-Sachs disease. Expansion of the mutation
            spectrum
  JOURNAL   Orphanet J Rare Dis 18 (1), 52 (2023)
   PUBMED   36907859
  REMARK    GeneRIF: Biochemical and mutational analyses of HEXA in a cohort of
            Egyptian patients with infantile Tay-Sachs disease. Expansion of the
            mutation spectrum. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4785)
  AUTHORS   Abtahi R, Karimzadeh P, Rezayi A, Salehpour S, Akbarzadeh D,
            Tonekaboni SH, Emameh RZ and Houshmand M.
  TITLE     Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian
            Patients
  JOURNAL   J Mol Neurosci 72 (3), 555-564 (2022)
   PUBMED   34554397
  REMARK    GeneRIF: Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68
            Iranian Patients.
REFERENCE   3  (bases 1 to 4785)
  AUTHORS   Pennybacker M, Liessem B, Moczall H, Tifft CJ, Sandhoff K and Proia
            RL.
  TITLE     Identification of domains in human beta-hexosaminidase that
            determine substrate specificity
  JOURNAL   J Biol Chem 271 (29), 17377-17382 (1996)
   PUBMED   8663217
REFERENCE   4  (bases 1 to 4785)
  AUTHORS   Toro,C., Shirvan,L. and Tifft,C.
  TITLE     HEXA Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301397
REFERENCE   5  (bases 1 to 4785)
  AUTHORS   O'Dowd BF, Cumming DA, Gravel RA and Mahuran D.
  TITLE     Oligosaccharide structure and amino acid sequence of the major
            glycopeptides of mature human beta-hexosaminidase
  JOURNAL   Biochemistry 27 (14), 5216-5226 (1988)
   PUBMED   2971395
REFERENCE   6  (bases 1 to 4785)
  AUTHORS   Little LE, Lau MM, Quon DV, Fowler AV and Neufeld EF.
  TITLE     Proteolytic processing of the alpha-chain of the lysosomal enzyme,
            beta-hexosaminidase, in normal human fibroblasts
  JOURNAL   J Biol Chem 263 (9), 4288-4292 (1988)
   PUBMED   2964446
REFERENCE   7  (bases 1 to 4785)
  AUTHORS   Proia,R.L. and Soravia,E.
  TITLE     Organization of the gene encoding the human beta-hexosaminidase
            alpha-chain
  JOURNAL   J Biol Chem 262 (12), 5677-5681 (1987)
   PUBMED   2952641
  REMARK    Erratum:[J Biol Chem 1987 Nov 5;262(31):15322]
REFERENCE   8  (bases 1 to 4785)
  AUTHORS   Myerowitz,R., Piekarz,R., Neufeld,E.F., Shows,T.B. and Suzuki,K.
  TITLE     Human beta-hexosaminidase alpha chain: coding sequence and homology
            with the beta chain
  JOURNAL   Proc Natl Acad Sci U S A 82 (23), 7830-7834 (1985)
   PUBMED   2933746
REFERENCE   9  (bases 1 to 4785)
  AUTHORS   Beutler,E., Kuhl,W. and Comings,D.
  TITLE     Hexosaminidase isozyme in type O Gm2 gangliosidosis
            (Sandhoff-Jatzkewitz disease)
  JOURNAL   Am J Hum Genet 27 (5), 628-638 (1975)
   PUBMED   808963
REFERENCE   10  (bases 1 to 4785)
  AUTHORS   Gilbert,F., Kucherlapati,R., Creagan,R.P., Murnane,M.J.,
            Darlington,G.J. and Ruddle,F.H.
  TITLE     Tay-Sachs' and Sandhoff's diseases: the assignment of genes for
            hexosaminidase A and B to individual human chromosomes
  JOURNAL   Proc Natl Acad Sci U S A 72 (1), 263-267 (1975)
   PUBMED   1054503
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M13520.1, CR627386.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000268097.10/ ENSP00000268097.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC356933.1, BC018927.2,
            AC009690.17 and BM668409.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000520.5.
            Summary: This gene encodes a member of the glycosyl hydrolase 20
            family of proteins. The encoded preproprotein is proteolytically
            processed to generate the alpha subunit of the lysosomal enzyme
            beta-hexosaminidase. This enzyme, together with the cofactor GM2
            activator protein, catalyzes the degradation of the ganglioside
            GM2, and other molecules containing terminal N-acetyl hexosamines.
            Mutations in this gene lead to an accumulation of GM2 ganglioside
            in neurons, the underlying cause of neurodegenerative disorders
            termed the GM2 gangliosidoses, including Tay-Sachs disease
            (GM2-gangliosidosis type I). Alternative splicing results in
            multiple transcript variants, at least one of which encodes a
            preproprotein that is proteolytically processed. [provided by
            RefSeq, Jan 2016].
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region compared to variant 1. The
            encoded isoform (2) is shorter than isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4785
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q23"
     gene            1..4785
                     /gene="HEXA"
                     /gene_synonym="TSD"
                     /note="hexosaminidase subunit alpha"
                     /db_xref="GeneID:3073"
                     /db_xref="HGNC:HGNC:4878"
                     /db_xref="MIM:606869"
     CDS             43..1632
                     /gene="HEXA"
                     /gene_synonym="TSD"
                     /EC_number="3.2.1.52"
                     /note="isoform 2 preproprotein is encoded by transcript
                     variant 2; beta-hexosaminidase subunit alpha;
                     hexosaminidase subunit A; hexosaminidase A (alpha
                     polypeptide); beta-N-acetylhexosaminidase subunit alpha;
                     N-acetyl-beta-glucosaminidase subunit alpha"
                     /codon_start=1
                     /product="beta-hexosaminidase subunit alpha isoform 2
                     preproprotein"
                     /protein_id="NP_000511.2"
                     /db_xref="CCDS:CCDS10243.1"
                     /db_xref="GeneID:3073"
                     /db_xref="HGNC:HGNC:4878"
                     /db_xref="MIM:606869"
                     /translation="MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQ
                     FQYDVSSAAQPGCSVLDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGC
                     NQLPTLESVENYTLTINDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIED
                     FPRFPHRGLLLDTSRHYLPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELM
                     RKGSYNPVTHIYTAQDVKEVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGS
                     EPSGTFGPVNPSLNNTYEFMSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMR
                     KKGFGEDFKQLESFYIQTLLDIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVN
                     YMKELELVTKAGFRALLSAPWYLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEAC
                     MWGEYVDNTNLVPRLWPRAGAVAERLWSNKLTSDLTFAYERLSHFRCELLRRGVQAQPL
                     NVGFCEQEFEQT"
     sig_peptide     43..108
                     /gene="HEXA"
                     /gene_synonym="TSD"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     307..1629
                     /gene="HEXA"
                     /gene_synonym="TSD"
                     /product="Beta-hexosaminidase subunit alpha.
                     /id=PRO_0000011994"
                     /note="propagated from UniProtKB/Swiss-Prot (P06865.2)"
     misc_feature    385..387
                     /gene="HEXA"
                     /gene_synonym="TSD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:1533633,
                     ECO:0000269|PubMed:16698036, ECO:0000305|PubMed:11707436;
                     propagated from UniProtKB/Swiss-Prot (P06865.2);
                     glycosylation site"
     misc_feature    511..513
                     /gene="HEXA"
                     /gene_synonym="TSD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:1533633,
                     ECO:0000269|PubMed:16698036, ECO:0000269|PubMed:19159218,
                     ECO:0000305|PubMed:11707436; propagated from
                     UniProtKB/Swiss-Prot (P06865.2); glycosylation site"
     misc_feature    925..927
                     /gene="HEXA"
                     /gene_synonym="TSD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:1533633,
                     ECO:0000269|PubMed:16698036, ECO:0000269|PubMed:19159218,
                     ECO:0000305|PubMed:11707436; propagated from
                     UniProtKB/Swiss-Prot (P06865.2); glycosylation site"
     misc_feature    1309..1314
                     /gene="HEXA"
                     /gene_synonym="TSD"
                     /note="propagated from UniProtKB/Swiss-Prot (P06865.2);
                     Region: Critical for hydrolysis GM2 gangliosides"
     regulatory      1791..1796
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEXA"
                     /gene_synonym="TSD"
                     /note="hexamer: AATAAA"
     polyA_site      1824
                     /gene="HEXA"
                     /gene_synonym="TSD"
                     /note="major polyA site"
     regulatory      2251..2256
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEXA"
                     /gene_synonym="TSD"
                     /note="hexamer: ATTAAA"
     polyA_site      2272
                     /gene="HEXA"
                     /gene_synonym="TSD"
     regulatory      4753..4758
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEXA"
                     /gene_synonym="TSD"
                     /note="hexamer: AATAAA"
     polyA_site      4785
                     /gene="HEXA"
                     /gene_synonym="TSD"
ORIGIN
        1 ctcacgtggc cagccccctc cgagagggga gaccagcggg ccatgacaag ctccaggctt
       61 tggttttcgc tgctgctggc ggcagcgttc gcaggacggg cgacggccct ctggccctgg
      121 cctcagaact tccaaacctc cgaccagcgc tacgtccttt acccgaacaa ctttcaattc
      181 cagtacgatg tcagctcggc cgcgcagccc ggctgctcag tcctcgacga ggccttccag
      241 cgctatcgtg acctgctttt cggttccggg tcttggcccc gtccttacct cacagggaaa
      301 cggcatacac tggagaagaa tgtgttggtt gtctctgtag tcacacctgg atgtaaccag
      361 cttcctactt tggagtcagt ggagaattat accctgacca taaatgatga ccagtgttta
      421 ctcctctctg agactgtctg gggagctctc cgaggtctgg agacttttag ccagcttgtt
      481 tggaaatctg ctgagggcac attctttatc aacaagactg agattgagga ctttccccgc
      541 tttcctcacc ggggcttgct gttggataca tctcgccatt acctgccact ctctagcatc
      601 ctggacactc tggatgtcat ggcgtacaat aaattgaacg tgttccactg gcatctggta
      661 gatgatcctt ccttcccata tgagagcttc acttttccag agctcatgag aaaggggtcc
      721 tacaaccctg tcacccacat ctacacagca caggatgtga aggaggtcat tgaatacgca
      781 cggctccggg gtatccgtgt gcttgcagag tttgacactc ctggccacac tttgtcctgg
      841 ggaccaggta tccctggatt actgactcct tgctactctg ggtctgagcc ctctggcacc
      901 tttggaccag tgaatcccag tctcaataat acctatgagt tcatgagcac attcttctta
      961 gaagtcagct ctgtcttccc agatttttat cttcatcttg gaggagatga ggttgatttc
     1021 acctgctgga agtccaaccc agagatccag gactttatga ggaagaaagg cttcggtgag
     1081 gacttcaagc agctggagtc cttctacatc cagacgctgc tggacatcgt ctcttcttat
     1141 ggcaagggct atgtggtgtg gcaggaggtg tttgataata aagtaaagat tcagccagac
     1201 acaatcatac aggtgtggcg agaggatatt ccagtgaact atatgaagga gctggaactg
     1261 gtcaccaagg ccggcttccg ggcccttctc tctgccccct ggtacctgaa ccgtatatcc
     1321 tatggccctg actggaagga tttctacata gtggaacccc tggcatttga aggtacccct
     1381 gagcagaagg ctctggtgat tggtggagag gcttgtatgt ggggagaata tgtggacaac
     1441 acaaacctgg tccccaggct ctggcccaga gcaggggctg ttgccgaaag gctgtggagc
     1501 aacaagttga catctgacct gacatttgcc tatgaacgtt tgtcacactt ccgctgtgaa
     1561 ttgctgaggc gaggtgtcca ggcccaaccc ctcaatgtag gcttctgtga gcaggagttt
     1621 gaacagacct gagccccagg caccgaggag ggtgctggct gtaggtgaat ggtagtggag
     1681 ccaggcttcc actgcatcct ggccagggga cggagcccct tgccttcgtg ccccttgcct
     1741 gcgtgcccct gtgcttggag agaaaggggc cggtgctggc gctcgcattc aataaagagt
     1801 aatgtggcat ttttctataa taaacatgga ttacctgtgt ttaaaaaaaa aagtgtgaat
     1861 ggcgttaggg taagggcaca gccaggctgg agtcagtgtc tgcccctgag gtcttttaag
     1921 ttgagggctg ggaatgaaac ctatagcctt tgtgctgttc tgccttgcct gtgagctatg
     1981 tcactcccct cccactcctg accatattcc agacacctgc cctaatcctc agcctgctca
     2041 cttcacttct gcattatatc tccaaggcgt tggtatatgg aaaaagatgt aggggcttgg
     2101 aggtgttctg gacagtgggg agggctccag acccaacctg gtcacagaag agcctctccc
     2161 ccatgcatac tcatccacct ccctccccta gagctattct cctttgggtt tcttgctgct
     2221 tcaattttat acaaccatta tttaaatatt attaaacaca tattgttctc taggcactgt
     2281 ggtagtgggt ttttttgttg tttttgtttt tgagactgtc tcaaaaactc tgtcgcccag
     2341 gctgacagtg cagtggcaca atcttggctc actgcagcct ctgcctcctg ggttcaagcg
     2401 attctcgtgc atcagcctcc tgagtaactg gaattaatag gcacgtgcca ccatgtccat
     2461 ctaattcata tatatatatt ttttttttct gagacggagt ctcactgtca cacaggctgg
     2521 agtgcagtgg cacgatctcg actcactgca agctccacct cctgggttca cgccattctc
     2581 ctgcctcagc ctccccagta gctgggacta caggcgcccg ccaccacgcc cggctaattt
     2641 tttgtatttt tagtagagat ggggtttctc cgtgttagcc aggatggtct cgatctcctg
     2701 acctcgtgat ccgcccgcct tggcctccca aagtgctggg attacaggcg tgagccaccg
     2761 cgcccggccg aattcatcta tttttagtag agatggggtt tcactatatt ggccaggctg
     2821 gtcttgaact catgacctca gatgttcact tgtcttggcc tcccaaagtg ctgggattag
     2881 aggcgtgagc caccgcacgc gggcctgtgg taaattgttg aatttgaagg actcagaggc
     2941 cctggtcaat tccaaaataa cgtaggcgac ttccatcccc ctcctcccaa ccattttcag
     3001 cccaaagcat cttcgcaggg aatggatggc tgcgcggagg tgggcggtgg ctctggagag
     3061 ggtctttgca ggtgtgattt tctctagaag gaaatgtctc gtcgtggacc cagactgccc
     3121 cctcctggtt tcagatgcag aagtgatact gtaagccaga ggcgggggca gtaatgcatc
     3181 gcagccattt taggtgagga tttccttggc ggttatttgt taagttcttt ggctgggccc
     3241 tgggctgggg taacaatgga caggttccag gcattttttt cagaaagctt ccagtgtagt
     3301 ggatacagaa acttcaggaa ggcagggctg agaaggatct gagtaaaact cggtccttca
     3361 acaccatcct tcagcccctg ggtcatgttc cttcgaggtc ctggtgggag gtagacaagc
     3421 ctagccttgt gctgttcctg taaggacagg gtgggcattt tctaccaaca gaattcttgg
     3481 aattttcaca cagcccagcc tagccaagtc cagggctata gcccagatac acaagttaag
     3541 gtcccagcac tggcacccac cacaggagcc cccttacctc tattacccag aagcttgtag
     3601 gaggggtggt ccgcagacaa ggaccctgca caggtgcgac cctgcttccc tcctggtcat
     3661 aactttcatg ttactattgc ttgggataat gttaagtaaa aatagcagac actgagtttt
     3721 aagtctcaag tggatgaagg cagagatcgt gatacacttg agttaaagca gtagggttct
     3781 gtcattttct attcctgttg taaacatttt ctttaatgtt attattttta ccactaaact
     3841 aacgtggcct ggtcacgact ttcattggta aagtgtgctg ttcctcaccc tccaccgttg
     3901 ctcctttggt ccactgatca taagagcatt tacctgaagg tcgtcagacc tcgaatgcca
     3961 acaggtcaac tgcagtggcc tgcagttacc acccagtctg ttccaatgaa cagaatcgct
     4021 gttgccccaa ctcatctccc ttcacctagg ctgtaaattg aaagtcccac ccctgagcgg
     4081 aacacaggcc atcttgtgtg ctgtgcacca ccagggggtg gggaagtttc cagactgact
     4141 tcctggctcc agtcatccta ggaaaagagt tctccagtcg ctccccaccc ccaccccttc
     4201 ccattccagg agtctattaa ggaggcaaag caggcctaac gggtatcaaa gcaaaggagt
     4261 gaatggagac tgggagagtc ttcaacctct cctctccttg gtaggagctg aggctgcatg
     4321 ccaggtacct tcccttcgag gaatctaata aagctaggtc actggtgttt tcaggtgctt
     4381 ctcaaaggat tgccgtaggg gtaggatatc aggatgtggg agcacaggtg ccaccacagc
     4441 actagtgatg gagagtcatt gcccctagac ttctgggaca gtgagactgt gaggaaagct
     4501 gaaatgatac tgggaaaggg tgaaagaaag gatgtaggtg gaatttattt agtattaatg
     4561 taggtacaca taccttatgg caacattcct agcactctaa attctagatt tgtatagttt
     4621 ctgtcaatat cttttgtaag cttaatcaat acagggcatg acaagtatgt gtcacatact
     4681 tttttttcca cgaagaaaaa aaataagtag gaattgggtg ctttgtttat caaaatttgt
     4741 atttccttta taaataaact ttgaaataaa ggttgaaaat tagta
//
LOCUS       NM_000521               1812 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens hexosaminidase subunit beta (HEXB), transcript variant
            1, mRNA.
ACCESSION   NM_000521
VERSION     NM_000521.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1812)
  AUTHORS   Abtahi R, Karimzadeh P, Rezayi A, Salehpour S, Akbarzadeh D,
            Tonekaboni SH, Emameh RZ and Houshmand M.
  TITLE     Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian
            Patients
  JOURNAL   J Mol Neurosci 72 (3), 555-564 (2022)
   PUBMED   34554397
  REMARK    GeneRIF: Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68
            Iranian Patients.
REFERENCE   2  (bases 1 to 1812)
  AUTHORS   Tim-Aroon T, Wichajarn K, Katanyuwong K, Tanpaiboon P, Vatanavicharn
            N, Sakpichaisakul K, Kongkrapan A, Eu-Ahsunthornwattana J,
            Thongpradit S, Moolsuwan K, Satproedprai N, Mahasirimongkol S,
            Lerksuthirat T, Suktitipat B, Jinawath N and Wattanasirichaigoon D.
  TITLE     Infantile onset Sandhoff disease: clinical manifestation and a novel
            common mutation in Thai patients
  JOURNAL   BMC Pediatr 21 (1), 22 (2021)
   PUBMED   33407268
  REMARK    GeneRIF: Infantile onset Sandhoff disease: clinical manifestation
            and a novel common mutation in Thai patients. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1812)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1812)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1812)
  AUTHORS   Liu M, Huang D, Wang H, Zhao L, Wang Q and Chen X.
  TITLE     Clinical and Molecular Characteristics of Two Chinese Children with
            Infantile Sandhoff Disease and Review of the Literature
  JOURNAL   J Mol Neurosci 70 (4), 481-487 (2020)
   PUBMED   31919734
  REMARK    GeneRIF: Clinical and Molecular Characteristics of Two Chinese
            Children with Infantile Sandhoff Disease and Review of the
            Literature. Review article
REFERENCE   6  (bases 1 to 1812)
  AUTHORS   Xiao,C., Tifft,C. and Toro,C.
  TITLE     Sandhoff Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   35420740
REFERENCE   7  (bases 1 to 1812)
  AUTHORS   Bolhuis PA and Bikker H.
  TITLE     Deletion of the 5'-region in one or two alleles of HEXB in 15 out of
            30 patients with Sandhoff disease
  JOURNAL   Hum Genet 90 (3), 328-329 (1992)
   PUBMED   1487253
REFERENCE   8  (bases 1 to 1812)
  AUTHORS   McInnes B, Potier M, Wakamatsu N, Melancon SB, Klavins MH, Tsuji S
            and Mahuran DJ.
  TITLE     An unusual splicing mutation in the HEXB gene is associated with
            dramatically different phenotypes in patients from different racial
            backgrounds
  JOURNAL   J Clin Invest 90 (2), 306-314 (1992)
   PUBMED   1386607
REFERENCE   9  (bases 1 to 1812)
  AUTHORS   Wakamatsu N, Kobayashi H, Miyatake T and Tsuji S.
  TITLE     A novel exon mutation in the human beta-hexosaminidase beta subunit
            gene affects 3' splice site selection
  JOURNAL   J Biol Chem 267 (4), 2406-2413 (1992)
   PUBMED   1531140
REFERENCE   10  (bases 1 to 1812)
  AUTHORS   Gilbert,F., Kucherlapati,R., Creagan,R.P., Murnane,M.J.,
            Darlington,G.J. and Ruddle,F.H.
  TITLE     Tay-Sachs' and Sandhoff's diseases: the assignment of genes for
            hexosaminidase A and B to individual human chromosomes
  JOURNAL   Proc Natl Acad Sci U S A 72 (1), 263-267 (1975)
   PUBMED   1054503
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF378118.1, SRR3476690.59226.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000261416.12/ ENSP00000261416.7
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026405.5 and AC093214.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000521.3.
            Summary: Hexosaminidase B is the beta subunit of the lysosomal
            enzyme beta-hexosaminidase that, together with the cofactor GM2
            activator protein, catalyzes the degradation of the ganglioside
            GM2, and other molecules containing terminal N-acetyl hexosamines.
            Beta-hexosaminidase is composed of two subunits, alpha and beta,
            which are encoded by separate genes. Both beta-hexosaminidase alpha
            and beta subunits are members of family 20 of glycosyl hydrolases.
            Mutations in the alpha or beta subunit genes lead to an
            accumulation of GM2 ganglioside in neurons and neurodegenerative
            disorders termed the GM2 gangliosidoses. Beta subunit gene
            mutations lead to Sandhoff disease (GM2-gangliosidosis type II).
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, May
            2014].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1812
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.3"
     gene            1..1812
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /note="hexosaminidase subunit beta"
                     /db_xref="GeneID:3074"
                     /db_xref="HGNC:HGNC:4879"
                     /db_xref="MIM:606873"
     CDS             29..1699
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /EC_number="3.2.1.52"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; beta-hexosaminidase subunit beta; HCC-7;
                     hexosaminidase subunit B; beta-N-acetylhexosaminidase
                     subunit beta; cervical cancer proto-oncogene 7 protein;
                     N-acetyl-beta-glucosaminidase subunit beta; epididymis
                     luminal protein 248; epididymis secretory protein Li 111;
                     hexosaminidase B (beta polypeptide); beta-hexosaminidase
                     beta-subunit; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="beta-hexosaminidase subunit beta isoform 1
                     preproprotein"
                     /protein_id="NP_000512.2"
                     /db_xref="CCDS:CCDS4022.1"
                     /db_xref="GeneID:3074"
                     /db_xref="HGNC:HGNC:4879"
                     /db_xref="MIM:606873"
                     /translation="MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARA
                     PSVSAKPGPALWPLPLLVKMTPNLLHLAPENFYISHSPNSTAGPSCTLLEEAFRRYHGY
                     IFGFYKWHHEPAEFQAKTQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVLKAN
                     RVWGALRGLETFSQLVYQDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKIILKT
                     LDAMAFNKFNVLHWHIVDDQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLR
                     GIRVLPEFDTPGHTLSWGKGQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEI
                     SEVFPDQFIHLGGDEVEFKCWESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATIN
                     KGSIVWQEVFDDKAKLAPGTIVEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQ
                     DWRKYYKVEPLDFGGTQKQKQLFIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSK
                     DVRDMDDAYDRLTRHRCRMVERGIAAQPLYAGYCNHENM"
     sig_peptide     29..154
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P07686.4)"
     misc_feature    278..280
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:11447134,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P07686.4); glycosylation site"
     mat_peptide     392..1696
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /product="Beta-hexosaminidase subunit beta.
                     /id=PRO_0000012003"
                     /note="propagated from UniProtKB/Swiss-Prot (P07686.4)"
     mat_peptide     392..961
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /product="Beta-hexosaminidase subunit beta chain B.
                     /id=PRO_0000012004"
                     /note="propagated from UniProtKB/Swiss-Prot (P07686.4)"
     misc_feature    452..454
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:11447134; propagated from
                     UniProtKB/Swiss-Prot (P07686.4); glycosylation site"
     misc_feature    596..598
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:11447134; propagated from
                     UniProtKB/Swiss-Prot (P07686.4); glycosylation site"
     mat_peptide     971..1696
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /product="Beta-hexosaminidase subunit beta chain A.
                     /id=PRO_0000012005"
                     /note="propagated from UniProtKB/Swiss-Prot (P07686.4)"
     misc_feature    1007..1009
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:11447134,
                     ECO:0000269|PubMed:12754519, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (P07686.4);
                     glycosylation site"
     misc_feature    1517..1519
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /note="Not glycosylated.
                     /evidence=ECO:0000269|PubMed:11447134; propagated from
                     UniProtKB/Swiss-Prot (P07686.4); other site"
     regulatory      1789..1794
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /note="hexamer: AATAAA"
     polyA_site      1812
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /note="major polyA site"
ORIGIN
        1 agaccgggcg gaaagcagcc gagcggccat ggagctgtgc gggctggggc tgccccggcc
       61 gcccatgctg ctggcgctgc tgttggcgac actgctggcg gcgatgttgg cgctgctgac
      121 tcaggtggcg ctggtggtgc aggtggcgga ggcggctcgg gccccgagcg tctcggccaa
      181 gccggggccg gcgctgtggc ccctgccgct cttggtgaag atgaccccga acctgctgca
      241 tctcgccccg gagaacttct acatcagcca cagccccaat tccacggcgg gcccctcctg
      301 caccctgctg gaggaagcgt ttcgacgata tcatggctat atttttggtt tctacaagtg
      361 gcatcatgaa cctgctgaat tccaggctaa aacccaggtt cagcaacttc ttgtctcaat
      421 cacccttcag tcagagtgtg atgctttccc caacatatct tcagatgagt cttatacttt
      481 acttgtgaaa gaaccagtgg ctgtccttaa ggccaacaga gtttggggag cattacgagg
      541 tttagagacc tttagccagt tagtttatca agattcttat ggaactttca ccatcaatga
      601 atccaccatt attgattctc caaggttttc tcacagagga attttgattg atacatccag
      661 acattatctg ccagttaaga ttattcttaa aactctggat gccatggctt ttaataagtt
      721 taatgttctt cactggcaca tagttgatga ccagtctttc ccatatcaga gcatcacttt
      781 tcctgagtta agcaataaag gaagctattc tttgtctcat gtttatacac caaatgatgt
      841 ccgtatggtg attgaatatg ccagattacg aggaattcga gtcctgccag aatttgatac
      901 ccctgggcat acactatctt ggggaaaagg tcagaaagac ctcctgactc catgttacag
      961 tagacaaaac aagttggact cttttggacc tataaaccct actctgaata caacatacag
     1021 cttccttact acatttttca aagaaattag tgaggtgttt ccagatcaat tcattcattt
     1081 gggaggagat gaagtggaat ttaaatgttg ggaatcaaat ccaaaaattc aagatttcat
     1141 gaggcaaaaa ggctttggca cagattttaa gaaactagaa tctttctaca ttcaaaaggt
     1201 tttggatatt attgcaacca taaacaaggg atccattgtc tggcaggagg tttttgatga
     1261 taaagcaaag cttgcgccgg gcacaatagt tgaagtatgg aaagacagcg catatcctga
     1321 ggaactcagt agagtcacag catctggctt ccctgtaatc ctttctgctc cttggtactt
     1381 agatttgatt agctatggac aagattggag gaaatactat aaagtggaac ctcttgattt
     1441 tggcggtact cagaaacaga aacaactttt cattggtgga gaagcttgtc tatggggaga
     1501 atatgtggat gcaactaacc tcactccaag attatggcct cgggcaagtg ctgttggtga
     1561 gagactctgg agttccaaag atgtcagaga tatggatgac gcctatgaca gactgacaag
     1621 gcaccgctgc aggatggtcg aacgtggaat agctgcacaa cctctttatg ctggatattg
     1681 taaccatgag aacatgtaaa aaatggaggg gaaaaaggcc acagcaatct gtactacaat
     1741 caactttatt ttgaaatcat gtaaaataag atattagact gttttttgaa taaaatattt
     1801 ttattgattg aa
//
LOCUS       NM_000522               5015 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens homeobox A13 (HOXA13), mRNA.
ACCESSION   NM_000522
VERSION     NM_000522.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5015)
  AUTHORS   Liu J, Feng H, Wang D, Wang Y, Luo J, Xu S, Zhao F and Qin G.
  TITLE     HOXA13 promotes the proliferation, migration, and invasion of
            nasopharyngeal carcinoma HNE1 cells by upregulating the expression
            of Snail and MMP-2
  JOURNAL   Sci Rep 13 (1), 12978 (2023)
   PUBMED   37563232
  REMARK    GeneRIF: HOXA13 promotes the proliferation, migration, and invasion
            of nasopharyngeal carcinoma HNE1 cells by upregulating the
            expression of Snail and MMP-2. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5015)
  AUTHORS   Feng H, Zhao F, Luo J, Xu S, Liang Z, Xu W, Bao Y and Qin G.
  TITLE     Long non-coding RNA HOTTIP exerts an oncogenic function by
            regulating HOXA13 in nasopharyngeal carcinoma
  JOURNAL   Mol Biol Rep 50 (8), 6807-6818 (2023)
   PUBMED   37392284
  REMARK    GeneRIF: Long non-coding RNA HOTTIP exerts an oncogenic function by
            regulating HOXA13 in nasopharyngeal carcinoma.
REFERENCE   3  (bases 1 to 5015)
  AUTHORS   Pagnamenta AT, Yu J, Evans J, Twiss P, Offiah AC, Wafik M, Mehta SG,
            Javaid MK, Smithson SF and Taylor JC.
  CONSRTM   Genomics England Research Consortium; Musculoskeletal GeCIP MDT
  TITLE     Conclusion of diagnostic odysseys due to inversions disrupting GLI3
            and FBN1
  JOURNAL   J Med Genet 60 (5), 505-510 (2023)
   PUBMED   36411030
  REMARK    GeneRIF: Conclusion of diagnostic odysseys due to inversions
            disrupting GLI3 and FBN1.
REFERENCE   4  (bases 1 to 5015)
  AUTHORS   Geng W, Li F, Zhang R, Cao L, Du X, Gu W and Xu M.
  TITLE     Hand-foot-genital syndrome due to a duplication variant in the
            GC-rich region of HOXA13
  JOURNAL   Eur J Med Genet 66 (3), 104711 (2023)
   PUBMED   36702441
  REMARK    GeneRIF: Hand-foot-genital syndrome due to a duplication variant in
            the GC-rich region of HOXA13.
REFERENCE   5  (bases 1 to 5015)
  AUTHORS   Han T, Shi M, Chen G and Hao J.
  TITLE     Circ_0008726 promotes malignant progression of ESCC cells through
            miR-206/HOXA13 pathway
  JOURNAL   Gen Thorac Cardiovasc Surg 71 (1), 33-45 (2023)
   PUBMED   36190650
  REMARK    GeneRIF: Circ_0008726 promotes malignant progression of ESCC cells
            through miR-206/HOXA13 pathway.
REFERENCE   6  (bases 1 to 5015)
  AUTHORS   Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF and Dutrillaux B.
  TITLE     Fine mapping of human HOX gene clusters
  JOURNAL   Cytogenet Cell Genet 73 (1-2), 114-115 (1996)
   PUBMED   8646877
REFERENCE   7  (bases 1 to 5015)
  AUTHORS   Innis,J.W.
  TITLE     Hand-Foot-Genital Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301596
REFERENCE   8  (bases 1 to 5015)
  AUTHORS   Scott,M.P.
  TITLE     Vertebrate homeobox gene nomenclature
  JOURNAL   Cell 71 (4), 551-553 (1992)
   PUBMED   1358459
REFERENCE   9  (bases 1 to 5015)
  AUTHORS   McAlpine,P.J. and Shows,T.B.
  TITLE     Nomenclature for human homeobox genes
  JOURNAL   Genomics 7 (3), 460 (1990)
   PUBMED   1973146
REFERENCE   10  (bases 1 to 5015)
  AUTHORS   Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E,
            Morelli F, Stornaiuolo A, Nigro V, Simeone A and Boncinelli E.
  TITLE     The human HOX gene family
  JOURNAL   Nucleic Acids Res 17 (24), 10385-10402 (1989)
   PUBMED   2574852
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC075791.1, DRR138528.1024657.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2162568
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000649031.1/ ENSP00000497112.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC075791.1 and AC004080.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 24, 2019 this sequence version replaced NM_000522.4.
            Summary: In vertebrates, the genes encoding the class of
            transcription factors called homeobox genes are found in clusters
            named A, B, C, and D on four separate chromosomes. Expression of
            these proteins is spatially and temporally regulated during
            embryonic development. This gene is part of the A cluster on
            chromosome 7 and encodes a DNA-binding transcription factor which
            may regulate gene expression, morphogenesis, and differentiation.
            Expansion of a polyalanine tract in the encoded protein can cause
            hand-foot-uterus syndrome, also known as hand-foot-genital
            syndrome. [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5015
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.2"
     gene            1..5015
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /note="homeobox A13"
                     /db_xref="GeneID:3209"
                     /db_xref="HGNC:HGNC:5102"
                     /db_xref="MIM:142959"
     CDS             15..1181
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /note="homeo box A13; homeo box 1J; transcription factor
                     HOXA13; homeobox protein HOXA13; homeobox protein Hox-1J"
                     /codon_start=1
                     /product="homeobox protein Hox-A13"
                     /protein_id="NP_000513.2"
                     /db_xref="CCDS:CCDS5412.1"
                     /db_xref="GeneID:3209"
                     /db_xref="HGNC:HGNC:5102"
                     /db_xref="MIM:142959"
                     /translation="MTASVLLHPRWIEPTVMFLYDNGGGLVADELNKNMEGAAAAAAAA
                     AAAAAAGAGGGGFPHPAAAAAGGNFSVAAAAAAAAAAAANQCRNLMAHPAPLAPGAASA
                     YSSAPGEAPPSAAAAAAAAAAAAAAAAAASSSGGPGPAGPAGAEAAKQCSPCSAAAQSS
                     SGPAALPYGYFGSGYYPCARMGPHPNAIKSCAQPASAAAAAAFADKYMDTAGPAAEEFS
                     SRAKEFAFYHQGYAAGPYHHHQPMPGYLDMPVVPGLGGPGESRHEPLGLPMESYQPWAL
                     PNGWNGQMYCPKEQAQPPHLWKSTLPDVVSHPSDASSYRRGRKKRVPYTKVQLKELERE
                     YATNKFITKDKRRRISATTNLSERQVTIWFQNRRVKEKKVINKLKTTS"
     regulatory      2360..2365
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /note="hexamer: AATAAA"
     polyA_site      2387
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /note="major polyA site"
     regulatory      3769..3774
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /note="hexamer: AATAAA"
     polyA_site      3789
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /note="major polyA site"
     regulatory      3953..3958
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /note="hexamer: ATTAAA"
     polyA_site      3976
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /note="major polyA site"
ORIGIN
        1 atgcggctcg ggctatgaca gcctccgtgc tcctccaccc ccgctggatc gagcccaccg
       61 tcatgtttct ctacgacaac ggcggcggcc tggtggccga cgagctcaac aagaacatgg
      121 aaggggcggc ggcggctgca gcagcggctg cagcggcggc ggctgccggg gccgggggcg
      181 ggggcttccc ccacccggcg gctgcggcgg cagggggcaa cttctcggtg gcggcggcgg
      241 ccgcggctgc ggcggcggcc gcggccaacc agtgccgcaa cctgatggcg cacccggcgc
      301 ccttggcgcc aggagccgcg tccgcctaca gcagcgcccc cggggaggcg cccccgtcgg
      361 ctgccgccgc tgctgccgcg gctgccgctg cagccgccgc cgccgccgcc gcgtcgtcct
      421 cgggaggtcc cggcccggcg ggcccggcgg gcgcagaggc cgccaagcaa tgcagcccct
      481 gctcggcagc ggcgcagagc tcgtcggggc ccgcggcgct gccctatggc tacttcggca
      541 gcggctacta cccgtgcgcc cgcatgggcc cgcaccccaa cgccatcaag tcgtgcgcgc
      601 agcccgcctc ggccgccgcc gccgccgcct tcgcggacaa gtacatggat accgccggcc
      661 cagctgccga ggagttcagc tcccgcgcta aggagttcgc cttctaccac cagggctacg
      721 cagccgggcc ttaccaccac catcagccca tgcctggcta cctggatatg ccagtggtgc
      781 cgggcctcgg gggccccggc gagtcgcgcc acgaaccctt gggtcttccc atggaaagct
      841 accagccctg ggcgctgccc aacggctgga acggccaaat gtactgcccc aaagagcagg
      901 cgcagcctcc ccacctctgg aagtccactc tgcccgacgt ggtctcccat ccctcggatg
      961 ccagctccta taggaggggg agaaagaagc gcgtgcctta taccaaggtg caattaaaag
     1021 aacttgaacg ggaatacgcc acgaataaat tcattactaa ggacaaacgg aggcggatat
     1081 cagccacgac gaatctctct gagcggcagg tcacaatctg gttccagaac aggagggtta
     1141 aagagaaaaa agtcatcaac aaactgaaaa ccactagtta atggattaaa aatagagcaa
     1201 gaaggcaact tgaagaaacg cttcagaact cgttgctttg cccagataat gataataatg
     1261 cttaataata attgaagaat gggaaagaga aagagacaga gactggcatt ttcctctccc
     1321 gaaggagatc tctttctctt taatggaatc tacaactgtt ttaaaacttt aagaaaggta
     1381 aagactgcca gttcttccgc caaccccatc agcccagccc gttaaatgtc aaacgtcaac
     1441 ccccaaaata cgcaatttca gataagttac gcagttactg aaatcttgta agtatttaag
     1501 tgatcgttac attttaggac actgcgttag atggtaataa tctggaagtt ggttacaaac
     1561 gcaagaggcc attgtaaaca tctgcttgtc cttcttaggt cgccattccc tttgcatgtt
     1621 aagcgtctgc tcaggtaaat cttagtgaaa ttcctaccgt tgttgtacgt tctgcaaaac
     1681 attttatgta tagatttaga ggggaaacga gaaggtactg aaataatgat cttggaatat
     1741 ttgctgtgaa gggagaaagg gagagaaaac tcttctgagg atcatttgtc ttggtagtat
     1801 agtaaaacca accagctgaa cctttcaggc tacaagagaa cccgggtcgg taatgtcttt
     1861 ttaagaataa tttttaattg cttataacaa gcatattttg tggcatttga actatattta
     1921 ctgctccaat atccgttatt ttccaaagga ttttgtatct ttttgaaaat gtttacatca
     1981 tcagatgatc cacagaattc actttatgtg agatctcccg agagtttcca tcccaacatg
     2041 atggactttg gtttgaacac aattcgtttt ttcatttgaa ttggcatttc ccaatatttg
     2101 ctaaacattt gctggagaaa tcatttttct tttttctttt ttagaaaact cagaatgaaa
     2161 attcattccc ctgaaatatt taggtgtcta tattctatat tttgatctat taagggatta
     2221 gtatttttcc atgtttattg tgttatcaga gtgcattaga aagattagtg attcatcttc
     2281 acagcacatt tttaatcaag cagttatttc aaccagcaca ttcgttttgt tcatattcac
     2341 tatagaatga tatcttgtaa ataaagacat tcagcacact gtgaaaatgt atttgtgcac
     2401 ctgcttttta aatatttcta ctaaaaatga aaaaaaaaaa cccttagacc tgtagatagt
     2461 gatatcgtaa tattaattgt taataaaata gtcactgcca ttaaaatctg cagaaaatac
     2521 tctttacttt cctatgctaa atgtgcactg cacagaaaga aaaggagcag gtttatctta
     2581 tataaaccaa ggaccattct ttattattat tcagtacttc ttttgctacc aaatttttaa
     2641 gaaaagggag aaatccctca taactaaaat cctaaaaaat gataagtgct tcaaggagat
     2701 taaagtgtca ggtattacaa aagggagaga aaagaaagga ggaagagata gtatgaattc
     2761 ccaggctccc tgtggaaaat gaaaaccagt tgttttgtag cagcaatgcc taggctgtcg
     2821 tattttaaaa tctgctgttg ggtctgcatg tgtctgagag ggcaggtttt gatatttgtt
     2881 gaaatgacag gactacgaaa ggccttaaac cttgaccttg acgaaaaaaa agacaatttg
     2941 tgaccttgac ttttgacagc tcatgaattg gccttagctg gattagtaga tcaagggcgc
     3001 cacctcgcgt tgacaagcct ccttgtaatt cttcaaccaa gggaatcaag agctcttacc
     3061 tccttgactt tagagattca gtactcaatt atttggctcc agctggagca aatttgaata
     3121 tatgtaaatt atacatgtcc ctgtatatat gtaaatatat ataatatgtg tacacatgta
     3181 tacatttgca tattagtgct tgtgtgtgct tgtatatata tttgtagaat ctgtacagat
     3241 atcatatcat taattgctaa tgacgcaaga tattgtaatt taaggtgatt tctagaattg
     3301 aggtacaaaa tgtactttac aagatgaagc cttgttcctt ttctctaatg gccaaatttg
     3361 atttgtcttc acagtggctt gctctgcatc agatttctgc agatctgctt taaagctgta
     3421 catttttgtt acagtctaag atgtgttctt aaatcaccat tccttcctgg tcctcaccct
     3481 ccagggtggt ctcacactgt aattagagct attgaggagt ctttacagca aattaagatt
     3541 cagatgcctt gctaagtcta gagttctaga gttatgtttc agaaagtcta agaaacccac
     3601 ctcttgagag gtcagtaaag aggacttaat atttcatatc tacaaaatga ccacaggatt
     3661 ggatacagaa cgagagttat cctggataac tcagagctga gtactgctcc agggtggtgt
     3721 gcaatcttat attgatgctt gtgaatctgc catttgattt gtaggataaa taaatatgtt
     3781 taatattaac aacttccatc aaaactataa taataatatt atatctactg ttgacctcta
     3841 acaacaatca ggtgctgtat tcagagtcat aaagaataca tatgtatgtt tgtatattta
     3901 atatacacat aggataatgt gtttttgtca aatctatgct atgcgcatat gtattaaaat
     3961 gttggtggaa tcagtagccg tgggatgcag aattgtgaga tgcaggctaa ttttatcttt
     4021 acgttagagg aaagtaatag tgaatggaag aaccagattc atcattttat ggaaaataat
     4081 attgattggt tacaaaagtg gctgccggaa acctctccaa cctctcctga ggactcacaa
     4141 cttctttata gatgagaatt acgaaagagt ctctaaagct gtctcaaaaa caggctggtg
     4201 ttgaaacata catatcgaaa ggtctcgaga aattcaatta tattttgctg ccctgaggat
     4261 tttcactcca cttgtggaaa caaatgataa tgttgcttca gacccacctc tccacctctt
     4321 gttccaaaca gtactccatt tccaaatgag ctgccatcaa gccaaagtaa caactttctc
     4381 ccaaaatgtt taaagtggtg gaaaatcccc tcaaagctgg atcaaactgt gtgtttaaga
     4441 acagctccaa aagggactct tctgttgaca ggggatattt ttctttagat gtaagaaata
     4501 ttctgagcct cgagcctagg aaggaggcca acagcagctc tccagccggg atcccgcccc
     4561 tttcgaaagc catcaccact acaggaaccc tgggtaaagt agtagccttc tttttttctc
     4621 tctctagttt ttgaaactgt aatgacagaa gacatttcag ggttgttgtg gggatttttt
     4681 ccccccagtt ctaaaatggt cattgatagt gtcgatctta cctaactctc ctcctattta
     4741 aaatttctgt ggatctacca gataacctaa agtgggcatg gattatttat tatggctcct
     4801 ttaatgccca aatagcaatc agtctaaaac cttaaaacaa aaacaaaaac aaaaacaaaa
     4861 atcaaggaga gaccagccac ctcctgaaaa ataggaataa tagtatcagc cactgaccca
     4921 tggataatgt tgttgaaagc ctgattaaag tatttttttc taaaaagaaa actcttcctg
     4981 aattaagaaa ataaaaatgg gactttaaaa aaaaa
//
LOCUS       NM_000523               2416 bp    mRNA    linear   PRI 15-MAY-2023
DEFINITION  Homo sapiens homeobox D13 (HOXD13), mRNA.
ACCESSION   NM_000523
VERSION     NM_000523.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2416)
  AUTHORS   Juarez-Rendon KJ, Castro-Garcia MA, Prada-Ortega DG, Rivera G,
            Ruiz-Godoy LM, Enriquez-Carcamo VI and Reyes-Lopez MA.
  TITLE     Variants Identified in the HOXC13 and HOXD13 Genes Suggest
            Association with Cervical Cancer in a Cohort of Mexican Women
  JOURNAL   Genes (Basel) 14 (2), 358 (2023)
   PUBMED   36833285
  REMARK    GeneRIF: Variants Identified in the HOXC13 and HOXD13 Genes Suggest
            Association with Cervical Cancer in a Cohort of Mexican Women.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2416)
  AUTHORS   Apfelbaum AA, Wu F, Hawkins AG, Magnuson B, Jimenez JA, Taylor SD,
            Wrenn ED, Waltner O, Pfaltzgraff ER, Song JY, Hall C, Wellik DM,
            Ljungman M, Furlan SN, Ryan RJH, Sarthy JF and Lawlor ER.
  TITLE     EWS::FLI1 and HOXD13 Control Tumor Cell Plasticity in Ewing Sarcoma
  JOURNAL   Clin Cancer Res 28 (20), 4466-4478 (2022)
   PUBMED   35653119
  REMARK    GeneRIF: EWS::FLI1 and HOXD13 Control Tumor Cell Plasticity in Ewing
            Sarcoma.
REFERENCE   3  (bases 1 to 2416)
  AUTHORS   Husile H, Wu Z, Yang L, Cao Y and Wu Q.
  TITLE     Identification of a HOXD13 variant in a Mongolian family with
            incomplete penetrance syndactyly by exon sequencing
  JOURNAL   BMC Med Genomics 15 (1), 210 (2022)
   PUBMED   36195906
  REMARK    GeneRIF: Identification of a HOXD13 variant in a Mongolian family
            with incomplete penetrance syndactyly by exon sequencing.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2416)
  AUTHORS   Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau
            RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora
            JB, Koboldt DC and Wilson RK.
  TITLE     Long-read whole genome sequencing reveals HOXD13 alterations in
            synpolydactyly
  JOURNAL   Hum Mutat 43 (2), 189-199 (2022)
   PUBMED   34859533
  REMARK    GeneRIF: Long-read whole genome sequencing reveals HOXD13
            alterations in synpolydactyly.
REFERENCE   5  (bases 1 to 2416)
  AUTHORS   Jia W, Zhou X, Guo N, Zhang D, Hou M, Luo Y, Peng X, Yang X and
            Zhang X.
  TITLE     A novel microdeletion upstream of HOXD13 in a Chinese family with
            synpolydactyly
  JOURNAL   Am J Med Genet A 188 (1), 31-36 (2022)
   PUBMED   34467619
  REMARK    GeneRIF: A novel microdeletion upstream of HOXD13 in a Chinese
            family with synpolydactyly.
REFERENCE   6  (bases 1 to 2416)
  AUTHORS   Goodman F, Giovannucci-Uzielli ML, Hall C, Reardon W, Winter R and
            Scambler P.
  TITLE     Deletions in HOXD13 segregate with an identical, novel foot
            malformation in two unrelated families
  JOURNAL   Am J Hum Genet 63 (4), 992-1000 (1998)
   PUBMED   9758628
REFERENCE   7  (bases 1 to 2416)
  AUTHORS   Johnson RL and Tabin CJ.
  TITLE     Molecular models for vertebrate limb development
  JOURNAL   Cell 90 (6), 979-990 (1997)
   PUBMED   9323126
  REMARK    Review article
REFERENCE   8  (bases 1 to 2416)
  AUTHORS   Akarsu AN, Stoilov I, Yilmaz E, Sayli BS and Sarfarazi M.
  TITLE     Genomic structure of HOXD13 gene: a nine polyalanine duplication
            causes synpolydactyly in two unrelated families
  JOURNAL   Hum Mol Genet 5 (7), 945-952 (1996)
   PUBMED   8817328
  REMARK    GeneRIF: Gene Structure and Report of Nine Polyalanine Duplications
            in Families with Synpolydactyly, Type II
REFERENCE   9  (bases 1 to 2416)
  AUTHORS   D'Esposito M, Morelli F, Acampora D, Migliaccio E, Simeone A and
            Boncinelli E.
  TITLE     EVX2, a human homeobox gene homologous to the even-skipped
            segmentation gene, is localized at the 5' end of HOX4 locus on
            chromosome 2
  JOURNAL   Genomics 10 (1), 43-50 (1991)
   PUBMED   1675198
REFERENCE   10  (bases 1 to 2416)
  AUTHORS   Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E,
            Morelli F, Stornaiuolo A, Nigro V, Simeone A and Boncinelli E.
  TITLE     The human HOX gene family
  JOURNAL   Nucleic Acids Res 17 (24), 10385-10402 (1989)
   PUBMED   2574852
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AI971733.1, AI858239.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000392539.4/ ENSP00000376322.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009336.13 and BX100910.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000523.3.
            Summary: This gene belongs to the homeobox family of genes. The
            homeobox genes encode a highly conserved family of transcription
            factors that play an important role in morphogenesis in all
            multicellular organisms. Mammals possess four similar homeobox gene
            clusters, HOXA, HOXB, HOXC and HOXD, located on different
            chromosomes, consisting of 9 to 11 genes arranged in tandem. This
            gene is one of several homeobox HOXD genes located in a cluster on
            chromosome 2. Deletions that remove the entire HOXD gene cluster or
            the 5' end of this cluster have been associated with severe limb
            and genital abnormalities. Mutations in this particular gene cause
            synpolydactyly. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2416
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..2416
                     /gene="HOXD13"
                     /gene_synonym="BDE; BDSD; HOX4I; SPD; SPD1"
                     /note="homeobox D13"
                     /db_xref="GeneID:3239"
                     /db_xref="HGNC:HGNC:5136"
                     /db_xref="MIM:142989"
     CDS             171..1202
                     /gene="HOXD13"
                     /gene_synonym="BDE; BDSD; HOX4I; SPD; SPD1"
                     /note="homeo box D13; homeo box 4I; homeobox protein
                     Hox-4I; synpolydactyly"
                     /codon_start=1
                     /product="homeobox protein Hox-D13"
                     /protein_id="NP_000514.2"
                     /db_xref="CCDS:CCDS2264.2"
                     /db_xref="GeneID:3239"
                     /db_xref="HGNC:HGNC:5136"
                     /db_xref="MIM:142989"
                     /translation="MSRAGSWDMDGLRADGGGAGGAPASSSSSSVAAAAASGQCRGFLS
                     APVFAGTHSGRAAAAAAAAAAAAAAASGFAYPGTSERTGSSSSSSSSAVVAARPEAPPA
                     KECPAPTPAAAAAAPPSAPALGYGYHFGNGYYSCRMSHGVGLQQNALKSSPHASLGGFP
                     VEKYMDVSGLASSSVPANEVPARAKEVSFYQGYTSPYQHVPGYIDMVSTFGSGEPRHEA
                     YISMEGYQSWTLANGWNSQVYCTKDQPQGSHFWKSSFPGDVALNQPDMCVYRRGRKKRV
                     PYTKLQLKELENEYAINKFINKDKRRRISAATNLSERQVTIWFQNRRVKDKKIVSKLKD
                     TVS"
     misc_feature    171..254
                     /gene="HOXD13"
                     /gene_synonym="BDE; BDSD; HOX4I; SPD; SPD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35453.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    339..383
                     /gene="HOXD13"
                     /gene_synonym="BDE; BDSD; HOX4I; SPD; SPD1"
                     /note="15A repeat; Region: polyalanine repeat"
     misc_feature    402..515
                     /gene="HOXD13"
                     /gene_synonym="BDE; BDSD; HOX4I; SPD; SPD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35453.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2388..2393
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HOXD13"
                     /gene_synonym="BDE; BDSD; HOX4I; SPD; SPD1"
                     /note="hexamer: AATAAA"
     polyA_site      2416
                     /gene="HOXD13"
                     /gene_synonym="BDE; BDSD; HOX4I; SPD; SPD1"
                     /note="major polyA site"
ORIGIN
        1 gttggagggc aggcgggccg gaggcgggag gctcacagag ggagagaggg ctagaggaag
       61 agggcgggag cgagcgaacc agagagaaag gagaggaggg aggaggcgcg ccgcgccatg
      121 gtgtcctgcg cggggccagg gccagggccg gggccgggcc aggccgggcc atgagccgcg
      181 ccgggagctg ggacatggac gggctgcggg cagacggcgg gggcgccggt ggcgccccgg
      241 cctcttcctc ctcctcatcg gtggcggcgg cggcggcgtc aggccagtgc cgcggctttc
      301 tctccgcgcc tgtgttcgcc gggacgcatt cggggcgggc ggcggcggcg gcagcggcgg
      361 ctgcggcggc ggcggcggca gcctccggct ttgcgtaccc cgggacctct gagcgcacgg
      421 gctcttcctc gtcgtcgtcc tcttctgccg ttgtagcggc gcgcccggag gctcccccag
      481 ccaaagagtg cccagcaccc acgcctgcag cggccgctgc agcgcccccg agcgctccag
      541 cgctgggcta cggctaccac ttcggcaacg gctactacag ctgccgtatg tcgcacggcg
      601 tgggcttaca gcagaatgcg ctcaagtcat cgccgcacgc ctcgctggga ggctttcccg
      661 tggagaagta catggacgtg tcaggcctgg cgagcagcag cgtaccggcc aacgaggtgc
      721 cagcgcgagc caaggaggta tccttctacc agggctatac gagcccttac cagcacgtgc
      781 ccggctatat cgacatggtg tccactttcg gctccgggga gcctcggcac gaggcctaca
      841 tctccatgga ggggtaccag tcctggacgc tggctaacgg gtggaacagc caggtgtact
      901 gcaccaagga ccagccacag gggtcccact tttggaaatc ttcctttcca ggggatgtgg
      961 ctctaaatca gccggacatg tgcgtctacc gaagagggag gaagaagaga gtgccttaca
     1021 ccaaactgca gcttaaagaa ctggagaacg agtatgccat taacaaattc attaacaagg
     1081 acaagcggcg gcgtatctcg gctgctacga acctatctga gagacaagtg accatttggt
     1141 ttcagaaccg aagagtgaag gacaagaaaa ttgtctccaa gctcaaagat actgtctcct
     1201 gatgtggtcc aggttggcca cagacagctt agaagccatt cggttgtctc caaaaggcct
     1261 ttggaaagac ttgaatatgt atttaattcc ccccaccccc tgccaatggt ggcaaatttt
     1321 gtgaattgtt tttctctctt ccccttatct ggctctaaaa ccttctgctg cccaacctga
     1381 ctttgtagtt ctgattttta cttgtttatt attggttttg ttcttgccta gggtttttaa
     1441 aatatctgtt tttaatgttt tgtttctccc tccaggccag tataaaggga cttgaagtat
     1501 tttttaataa tccgcccccc aatgaacttc agaagtgcca ttctgattta agggtttttt
     1561 taaaaaatta ctttatttgt tcattcccag cactgattat cttcataatc cattaggaca
     1621 gaatggtttt cagtcgttca tatcctgtaa ttaggtaatt gaatcattag ctctcagcag
     1681 ttgccctgag gcaagtggaa aggcaggcag tgctctgggg tcaccgagaa agtctaaaaa
     1741 caggaggctg aaggtactgt gatggcttta aaaatggcca ccttattaaa tagggattgt
     1801 atcaatattg aaatgaagac aatctttcca actttgggtg tttcacttgc tgttttaatt
     1861 gtttgttttt aacactttgt aggtttgtgt tttcataatc tttaatttga aactcatgtg
     1921 tcctcatgga tcgtggatgc cttcatttct tgagctctca atgcagacat ttaaatggct
     1981 gcaatcagta gagtgacccg cggatggcat aaatgcacct ccttttcttg gccttggatc
     2041 tatgggtctg ggattgtggt catctcctca atcctcaaaa agaggctgaa tcaatgtggc
     2101 cgtgggtggg aacttacata cagaacccaa tgaagaactt gactgtctaa acaagggggc
     2161 ctcgcatgga gctgtaaagc atctaacaaa tatgaaaaat gtgaagttcc aaggtccaag
     2221 aagaaaaata atgatgtttc tgaaagtgat gataaataat tacttttaaa gtgctgcata
     2281 tttatacaat tgagagatta tttttgtaaa tgcaatgtct gtgagctggg atacatgggc
     2341 agtgcttcag acatttaaaa atcacttttt actcctaggg agatgccaat aaacagaact
     2401 cttttgtttc ttctga
//
LOCUS       NM_000524               4572 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens 5-hydroxytryptamine receptor 1A (HTR1A), mRNA.
ACCESSION   NM_000524
VERSION     NM_000524.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4572)
  AUTHORS   Meyfarth SRS, Tavares JDS, Guimaraes LDS, Silva EAB, Gaio DC, Ecker
            MB, Brancher JA, Kuchler EC, Silva-Sousa AC, de Sousa-Neto MD,
            Antunes LAA and Antunes LS.
  TITLE     Association between single-nucleotide polymorphisms in serotonin
            receptor 2A and melatonin receptor 1A genes and pain after root
            canal treatment
  JOURNAL   Int Endod J 56 (9), 1077-1091 (2023)
   PUBMED   37323077
  REMARK    GeneRIF: Association between single-nucleotide polymorphisms in
            serotonin receptor 2A and melatonin receptor 1A genes and pain after
            root canal treatment.
REFERENCE   2  (bases 1 to 4572)
  AUTHORS   Cai L, Xu Z, Luo H, He Q, Diao L, Gui X and Wei L.
  TITLE     The association between 5-HT1A binding and temporal lobe epilepsy: A
            meta-analysis of molecular imaging studies
  JOURNAL   Epilepsy Behav 145, 109354 (2023)
   PUBMED   37473654
  REMARK    GeneRIF: The association between 5-HT1A binding and temporal lobe
            epilepsy: A meta-analysis of molecular imaging studies.
REFERENCE   3  (bases 1 to 4572)
  AUTHORS   Wang F, Luo D, Chen J, Pan C, Wang Z, Fu H, Xu J, Yang M, Mo S,
            Zhuang L and Wang W.
  TITLE     Influence of TPH2 and HTR1A polymorphisms on lifelong premature
            ejaculation risk among the chinese Han population
  JOURNAL   BMC Urol 23 (1), 86 (2023)
   PUBMED   37161455
  REMARK    GeneRIF: Influence of TPH2 and HTR1A polymorphisms on lifelong
            premature ejaculation risk among the chinese Han population.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4572)
  AUTHORS   Pawlowski T, Malyszczak K, Pawlak D, Inglot M, Zalewska M, Grzywacz
            A, Radkowski M, Laskus T, Janocha-Litwin J and Frydecka D.
  TITLE     HTR1A, TPH2, and 5-HTTLPR Polymorphisms and Their Impact on the
            Severity of Depressive Symptoms and on the Concentration of
            Tryptophan Catabolites during Hepatitis C Treatment with Pegylated
            Interferon-alpha2a and Oral Ribavirin (PEG-IFN-alpha2a/RBV)
  JOURNAL   Cells 12 (6), 970 (2023)
   PUBMED   36980311
  REMARK    GeneRIF: HTR1A, TPH2, and 5-HTTLPR Polymorphisms and Their Impact on
            the Severity of Depressive Symptoms and on the Concentration of
            Tryptophan Catabolites during Hepatitis C Treatment with Pegylated
            Interferon-alpha2a and Oral Ribavirin (PEG-IFN-alpha2a/RBV).
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4572)
  AUTHORS   Nikolic J, Vukojevic K, Soljic V, Miskovic J, Orlovic Vlaho M,
            Saraga-Babic M and Filipovic N.
  TITLE     Expression Patterns of Serotonin Receptors 5-HT1A, 5-HT2A, and
            5-HT3A during Human Fetal Lung Development
  JOURNAL   Int J Mol Sci 24 (3), 2965 (2023)
   PUBMED   36769290
  REMARK    GeneRIF: Expression Patterns of Serotonin Receptors 5-HT1A, 5-HT2A,
            and 5-HT3A during Human Fetal Lung Development. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 4572)
  AUTHORS   Varrault A, Bockaert J and Waeber C.
  TITLE     Activation of 5-HT1A receptors expressed in NIH-3T3 cells induces
            focus formation and potentiates EGF effect on DNA synthesis
  JOURNAL   Mol Biol Cell 3 (9), 961-969 (1992)
   PUBMED   1330092
REFERENCE   7  (bases 1 to 4572)
  AUTHORS   Levy FO, Gudermann T, Perez-Reyes E, Birnbaumer M, Kaumann AJ and
            Birnbaumer L.
  TITLE     Molecular cloning of a human serotonin receptor (S12) with a
            pharmacological profile resembling that of the 5-HT1D subtype
  JOURNAL   J Biol Chem 267 (11), 7553-7562 (1992)
   PUBMED   1559993
REFERENCE   8  (bases 1 to 4572)
  AUTHORS   Parks CL, Chang LS and Shenk T.
  TITLE     A polymerase chain reaction mediated by a single primer: cloning of
            genomic sequences adjacent to a serotonin receptor protein coding
            region
  JOURNAL   Nucleic Acids Res 19 (25), 7155-7160 (1991)
   PUBMED   1766875
REFERENCE   9  (bases 1 to 4572)
  AUTHORS   Melmer G, Sherrington R, Mankoo B, Kalsi G, Curtis D and Gurling HM.
  TITLE     A cosmid clone for the 5HT1A receptor (HTR1A) reveals a TaqI RFLP
            that shows tight linkage to dna loci D5S6, D5S39, and D5S76
  JOURNAL   Genomics 11 (3), 767-769 (1991)
   PUBMED   1685484
REFERENCE   10  (bases 1 to 4572)
  AUTHORS   el Mestikawy S, Fargin A, Raymond JR, Gozlan H and Hnatowich M.
  TITLE     The 5-HT1A receptor: an overview of recent advances
  JOURNAL   Neurochem Res 16 (1), 1-10 (1991)
   PUBMED   2052135
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AK314187.1, AK291429.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000323865.5/ ENSP00000316244.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC122707.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 27, 2019 this sequence version replaced NM_000524.3.
            Summary: This gene encodes a G protein-coupled receptor for
            5-hydroxytryptamine (serotonin), and belongs to the
            5-hydroxytryptamine receptor subfamily. Serotonin has been
            implicated in a number of physiologic processes and pathologic
            conditions. Inactivation of this gene in mice results in behavior
            consistent with an increased anxiety and stress response. Mutation
            in the promoter of this gene has been associated with menstrual
            cycle-dependent periodic fevers. [provided by RefSeq, Jun 2012].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4572
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q12.3"
     gene            1..4572
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="5-hydroxytryptamine receptor 1A"
                     /db_xref="GeneID:3350"
                     /db_xref="HGNC:HGNC:5286"
                     /db_xref="MIM:109760"
     misc_feature    586..588
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="upstream in-frame stop codon"
     CDS             727..1995
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="guanine nucleotide-binding regulatory
                     protein-coupled receptor; 5-HT1a receptor;
                     5-hydroxytryptamine (serotonin) receptor 1A, G
                     protein-coupled"
                     /codon_start=1
                     /product="5-hydroxytryptamine receptor 1A"
                     /protein_id="NP_000515.2"
                     /db_xref="CCDS:CCDS34168.1"
                     /db_xref="GeneID:3350"
                     /db_xref="HGNC:HGNC:5286"
                     /db_xref="MIM:109760"
                     /translation="MDVLSPGQGNNTTSPPAPFETGGNTTGISDVTVSYQVITSLLLGT
                     LIFCAVLGNACVVAAIALERSLQNVANYLIGSLAVTDLMVSVLVLPMAALYQVLNKWTL
                     GQVTCDLFIALDVLCCTSSILHLCAIALDRYWAITDPIDYVNKRTPRRAAALISLTWLI
                     GFLISIPPMLGWRTPEDRSDPDACTISKDHGYTIYSTFGAFYIPLLLMLVLYGRIFRAA
                     RFRIRKTVKKVEKTGADTRHGASPAPQPKKSVNGESGSRNWRLGVESKAGGALCANGAV
                     RQGDDGAALEVIEVHRVGNSKEHLPLPSEAGPTPCAPASFERKNERNAEAKRKMALARE
                     RKTVKTLGIIMGTFILCWLPFFIVALVLPFCESSCHMPTLLGAIINWLGYSNSLLNPVI
                     YAYFNKDFQNAFKKIIKCKFCRQ"
     misc_feature    727..795
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="propagated from UniProtKB/Swiss-Prot (P08908.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    754..756
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08908.3); glycosylation site"
     misc_feature    757..759
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08908.3); glycosylation site"
     misc_feature    796..798
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08908.3); glycosylation site"
     misc_feature    835..912
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="propagated from UniProtKB/Swiss-Prot (P08908.3);
                     transmembrane region"
     misc_feature    946..1020
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="propagated from UniProtKB/Swiss-Prot (P08908.3);
                     transmembrane region"
     misc_feature    1057..1122
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="propagated from UniProtKB/Swiss-Prot (P08908.3);
                     transmembrane region"
     misc_feature    1123..1131
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="propagated from UniProtKB/Swiss-Prot (P08908.3);
                     Region: DRY motif, important for ligand-induced
                     conformation changes. /evidence=ECO:0000250"
     misc_feature    1183..1260
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="propagated from UniProtKB/Swiss-Prot (P08908.3);
                     transmembrane region"
     misc_feature    1300..1377
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="propagated from UniProtKB/Swiss-Prot (P08908.3);
                     transmembrane region"
     misc_feature    1429..1512
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="propagated from UniProtKB/Swiss-Prot (P08908.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1762..1827
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="propagated from UniProtKB/Swiss-Prot (P08908.3);
                     transmembrane region"
     misc_feature    1861..1935
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="propagated from UniProtKB/Swiss-Prot (P08908.3);
                     transmembrane region"
     misc_feature    1912..1926
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="propagated from UniProtKB/Swiss-Prot (P08908.3);
                     Region: NPxxY motif, important for ligand-induced
                     conformation changes and signaling. /evidence=ECO:0000250"
     regulatory      4548..4553
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="hexamer: AATAAA"
     polyA_site      4572
                     /gene="HTR1A"
                     /gene_synonym="5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1;
                     G-21; PFMCD"
                     /note="major polyA site"
ORIGIN
        1 gttgacaaaa agagactcga atgcaaagac gctgagctag agggagagga gggcggggac
       61 ccagaggaaa gaggcactcc tcggggttgg ggaagtatta ggaggggagg gttagagtgg
      121 gagggaagga gcctggcttt cgaagcgact cacagaggga taaataaagg gaagtgagga
      181 ggaagaggga gactgaaagg gaaggcaggt ggggagaagg gggacgaaag aggcagaaga
      241 gagagaagag aggaggagag agggggagag agggaaggaa ggaaataggg agaggagggt
      301 cacagagtga ccgtggagga tggggcttct cggttctaga tatttctggg attggagact
      361 gtttgctagt ggggagactc cagctccggc agccagttcg ggagcggcaa agtaaaatgg
      421 acagcgacag acagacgttc cagccacctc tccgccgccg ggagatcctg gagctgcttt
      481 caggccaact ccagtttccc agctggagct tctgaacgcg ctggactgcg agagcccagg
      541 gagcgcctga aagctgctcc tcggagatac ccttcgccga agcagtaaga acttcctgct
      601 tgggtctctg cattcccttc ctccgaaact tcccaggaga agggcggaag accccagggg
      661 aaggggcgag gcgaatcttc gcgctgcttt ttcttccctc ccccttcccg cgccgggcgc
      721 gcaggcatgg atgtgctcag ccctggtcag ggcaacaaca ccacatcacc accggctccc
      781 tttgagaccg gcggcaacac tactggtatc tccgacgtga ccgtcagcta ccaagtgatc
      841 acctctctgc tgctgggcac gctcatcttc tgcgcggtgc tgggcaatgc gtgcgtggtg
      901 gctgccatcg ccttggagcg ctccctgcag aacgtggcca attatcttat tggctctttg
      961 gcggtcaccg acctcatggt gtcggtgttg gtgctgccca tggccgcgct gtatcaggtg
     1021 ctcaacaagt ggacactggg ccaggtaacc tgcgacctgt tcatcgccct cgacgtgctg
     1081 tgctgcacct catccatctt gcacctgtgc gccatcgcgc tggacaggta ctgggccatc
     1141 acggacccca tcgactacgt gaacaagagg acgccccggc gcgccgctgc gctcatctcg
     1201 ctcacttggc ttattggctt cctcatctct atcccgccca tgctgggctg gcgcaccccg
     1261 gaagaccgct cggaccccga cgcatgcacc attagcaagg atcatggcta cactatctat
     1321 tccacctttg gagctttcta catcccgctg ctgctcatgc tggttctcta tgggcgcata
     1381 ttccgagctg cgcgcttccg catccgcaag acggtcaaaa aggtggagaa gaccggagcg
     1441 gacacccgcc atggagcatc tcccgccccg cagcccaaga agagtgtgaa tggagagtcg
     1501 gggagcagga actggaggct gggcgtggag agcaaggctg ggggtgctct gtgcgccaat
     1561 ggcgcggtga ggcaaggtga cgatggcgcc gccctggagg tgatcgaggt gcaccgagtg
     1621 ggcaactcca aagagcactt gcctctgccc agcgaggctg gtcctacccc ttgtgccccc
     1681 gcctctttcg agaggaaaaa tgagcgcaac gccgaggcga agcgcaagat ggccctggcc
     1741 cgagagagga agacagtgaa gacgctgggc atcatcatgg gcaccttcat cctctgctgg
     1801 ctgcccttct tcatcgtggc tcttgttctg cccttctgcg agagcagctg ccacatgccc
     1861 accctgttgg gcgccataat caattggctg ggctactcca actctctgct taaccccgtc
     1921 atttacgcat acttcaacaa ggactttcaa aacgcgttta agaagatcat taagtgtaag
     1981 ttctgccgcc agtgatgacg gaggagtagc cggccagtcg aggctacagg atccgtccca
     2041 ttcactatgc ttcccccaac cctagggaat caacacttaa gataattcgc cacttctcct
     2101 ctttctctct gctccgctca cggcttgcag acctggtccc ctccccactt cctgctccac
     2161 ggcagggccc tttgtgcaaa ggagacccag cggaggagcg ttgagagccc aggaaattca
     2221 gagagtttgt gagaagcgac attggctcag acttcgcctg tatcatcagt tttgatccca
     2281 gtaattgcct cttctctctt ctatctccta aatctttgcg gtggatgttt aatgcttagt
     2341 tcaaggcaga aaatccaaaa aataaataaa ctgtacacac agccgccgcg cccactaagg
     2401 ggctccaccc catcacccaa cttctagaac ttggacttga ggtttgggaa tttgctccat
     2461 ctctcccgcc ctgtggccct tgaaatattc acctttttct ccccattttt atcttttctt
     2521 tttttcattg cttccctctc tgccctcgcc catccttatg cacgaatctg ctggtccgga
     2581 gaggcggaag aggctgcttt tccccgtgcc agcggtgccc ccgggattcc ccgtcttctc
     2641 gcagacttga gattaactct ctcgtgcagt gcacaacccc tatttccttt gtttccttgg
     2701 actcaaagca agtggctaga aggtatcttt tagagtggac ttgtaagtac aaggccgggc
     2761 cagtggggga gagcaaggag gaggagggtg tgcagaccac tttgtttatg cttgccttgg
     2821 tgtcagcact caccaaagaa actgacaatc atacagtgga gagagcggac gctgtttgta
     2881 caggtagctg gcgagtgtgt acgacctgac atcgccactt acttactgcg ggaggcgcca
     2941 gccggccgct gtttgcgctc tggggaagct gagaggcctg gaatccgcgc gcctccccag
     3001 ccatctgtgc tctcgcagcg cgctaggcgc tcccggctgc tgacttacag gatctgggtt
     3061 cctccgccta cgctctgggg cgccctgaag cgcgggtaga cacctgaggt ttttgcctta
     3121 gccagtggcg caagatgccg cggaactctt gggattggag agaccaagaa ggctttaaag
     3181 gggcgacacg caggggcggc aaagaggaaa ggttccccag ggcgcgcgtg cccaaggctc
     3241 cagctggctc ccccagtaaa acctgaaaga gcaattttat ccttacgatg tagaattttt
     3301 cctcctaatt cacgctcttg tcctttttgg atcggggaat aattctgttt agcgtgtccc
     3361 aacactcgct gcatttgctt tacaggacat ccaagacaca aagttagcag aactttgttt
     3421 tccaaatagg aattctgggc tttcaatgga atgcccagat agtccatagg ttagcactat
     3481 ctgtgacaac aggcagatag tttaaatagc agggtcctaa aggactagtt aggaggtggt
     3541 cttcctgggg aggctgagtc ttttatggga ttaattgctc cctagcgtga ccattctgct
     3601 gtaccaaggg tctgcggaaa ccaccttttt gccctttgaa ttgtgcagca ttccaggctt
     3661 tctctccttc agttattctt gaagccttgc cactcctgcc gagaaactgg ttaaaatctt
     3721 tgctgcccca gaaagggaag ttatttaggt actctggatg taaatttcca actacatgat
     3781 ggagatctag aggtttgtca ttgtttgatc tagcctccaa ttttcttatg aataatggtc
     3841 ttgttttcca gaaaattcac aaagtaattg atccctactc ttttctctct tcagctgtac
     3901 ctttcgaatg ttttcatttg ctgttttgag aaccgtatta catttacaga ttgcaaaaat
     3961 tgccagtgaa aagttcattt gtttataatt aagaaagtga aaggacagct ctgtcagttg
     4021 aagccatttt attgtttgtc agactgaaca aagctttcct ttggtgtctg cttctgtatt
     4081 ctaaactgga agtagacatc atatcccagc taaacaggga aagttttaga actttgggaa
     4141 tagtttgtct atgcatgtat aatgctgaga agggtctgca gtgaagaaga taagatagac
     4201 ttctccagca caactattac tcatttgata attcagtttc atttttgctc acataatcta
     4261 agtaaagcca tatcagaaac caagtttttc tgtatgttac actaaatttt aagaacaaag
     4321 tctatattta aaataatcca aaccccaaat ttgctcatcc aaattatgtc ttggccagca
     4381 agttttacat tagaagtttt gagacttcca tttatttgtg tcttttacag aattgtgtga
     4441 caatgacttt tggacatttg ttctttcggc tttggaatat ttacacaaga atggagaagg
     4501 aacatccaac tggagcataa ttgtcaaggc aatagagaat ttagagaaat aaaatagctg
     4561 catatctcaa aa
//
LOCUS       NM_000525               3412 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens potassium inwardly rectifying channel subfamily J
            member 11 (KCNJ11), transcript variant 1, mRNA.
ACCESSION   NM_000525
VERSION     NM_000525.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3412)
  AUTHORS   Lu Z, Zhang H, Yang Y and Zhao H.
  TITLE     Sex differences of the shared genetic landscapes between type 2
            diabetes and peripheral artery disease in East Asians and Europeans
  JOURNAL   Hum Genet 142 (7), 965-980 (2023)
   PUBMED   37341850
  REMARK    GeneRIF: Sex differences of the shared genetic landscapes between
            type 2 diabetes and peripheral artery disease in East Asians and
            Europeans.
REFERENCE   2  (bases 1 to 3412)
  AUTHORS   Qin C, Diaz-Gallo LM, Tang B, Wang Y, Nguyen TD, Harder A, Lu Y,
            Padyukov L, Askling J and Hagg S.
  TITLE     Repurposing antidiabetic drugs for rheumatoid arthritis: results
            from a two-sample Mendelian randomization study
  JOURNAL   Eur J Epidemiol 38 (7), 809-819 (2023)
   PUBMED   37052755
  REMARK    GeneRIF: Repurposing antidiabetic drugs for rheumatoid arthritis:
            results from a two-sample Mendelian randomization study.
REFERENCE   3  (bases 1 to 3412)
  AUTHORS   Severino P, D'Amato A, Mancone M, Palazzuoli A, Mariani MV, Prosperi
            S, Myftari V, Lavalle C, Forleo GB, Birtolo LI, Caputo V, Miraldi F,
            Chimenti C, Badagliacca R, Maestrini V, Palmirotta R, Vizza CD and
            Fedele F.
  TITLE     Protection against Ischemic Heart Disease: A Joint Role for eNOS and
            the KATP Channel
  JOURNAL   Int J Mol Sci 24 (9), 7927 (2023)
   PUBMED   37175633
  REMARK    GeneRIF: Protection against Ischemic Heart Disease: A Joint Role for
            eNOS and the KATP Channel. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3412)
  AUTHORS   Ashfield R and Ashcroft SJ.
  TITLE     Cloning of the promoters for the beta-cell ATP-sensitive K-channel
            subunits Kir6.2 and SUR1
  JOURNAL   Diabetes 47 (8), 1274-1280 (1998)
   PUBMED   9703328
REFERENCE   5  (bases 1 to 3412)
  AUTHORS   Iwasaki N, Kawamura M, Yamagata K, Cox NJ, Karibe S, Ohgawara H,
            Inagaki N, Seino S, Bell GI and Omori Y.
  TITLE     Identification of microsatellite markers near the human genes
            encoding the beta-cell ATP-sensitive K+ channel and linkage studies
            with NIDDM in Japanese
  JOURNAL   Diabetes 45 (2), 267-269 (1996)
   PUBMED   8549873
REFERENCE   6  (bases 1 to 3412)
  AUTHORS   Inagaki N, Gonoi T, Clement JP 4th, Namba N, Inazawa J, Gonzalez G,
            Aguilar-Bryan L, Seino S and Bryan J.
  TITLE     Reconstitution of IKATP: an inward rectifier subunit plus the
            sulfonylurea receptor
  JOURNAL   Science 270 (5239), 1166-1170 (1995)
   PUBMED   7502040
REFERENCE   7  (bases 1 to 3412)
  AUTHORS   Thomas PM, Cote GJ, Hallman DM and Mathew PM.
  TITLE     Homozygosity mapping, to chromosome 11p, of the gene for familial
            persistent hyperinsulinemic hypoglycemia of infancy
  JOURNAL   Am J Hum Genet 56 (2), 416-421 (1995)
   PUBMED   7847376
REFERENCE   8  (bases 1 to 3412)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   29792621
REFERENCE   9  (bases 1 to 3412)
  AUTHORS   De Leon,D.D. and Stanley,C.A.
  TITLE     Permanent Neonatal Diabetes Mellitus
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301620
REFERENCE   10  (bases 1 to 3412)
  AUTHORS   Gillis,D.
  TITLE     Familial Hyperinsulinism
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301549
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC064497.1, AK314943.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000339994.5/ ENSP00000345708.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124798.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 17, 2020 this sequence version replaced NM_000525.3.
            Summary: Potassium channels are present in most mammalian cells,
            where they participate in a wide range of physiologic responses.
            The protein encoded by this gene is an integral membrane protein
            and inward-rectifier type potassium channel. The encoded protein,
            which has a greater tendency to allow potassium to flow into a cell
            rather than out of a cell, is controlled by G-proteins and is found
            associated with the sulfonylurea receptor SUR. Mutations in this
            gene are a cause of familial persistent hyperinsulinemic
            hypoglycemia of infancy (PHHI), an autosomal recessive disorder
            characterized by unregulated insulin secretion. Defects in this
            gene may also contribute to autosomal dominant
            non-insulin-dependent diabetes mellitus type II (NIDDM), transient
            neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal
            diabetes mellitus (PNDM). Multiple alternatively spliced transcript
            variants that encode different protein isoforms have been described
            for this gene. [provided by RefSeq, Oct 2009].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3412
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     gene            1..3412
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="potassium inwardly rectifying channel subfamily J
                     member 11"
                     /db_xref="GeneID:3767"
                     /db_xref="HGNC:HGNC:6257"
                     /db_xref="MIM:600937"
     misc_feature    348
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="alternative transcription initiation site"
     misc_feature    500..502
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="upstream in-frame stop codon"
     CDS             569..1741
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     beta-cell inward rectifier subunit; ATP-sensitive inward
                     rectifier potassium channel 11; inwardly rectifying
                     potassium channel KIR6.2; potassium channel inwardly
                     rectifing subfamily J member 11; inward rectifier K(+)
                     channel Kir6.2; potassium channel, inwardly rectifying
                     subfamily J member 11; inwardly-rectifying potassium
                     channel subfamily J member 11; inwardly rectifing potassium
                     channel subfamily J member 11; potassium voltage-gated
                     channel subfamily J member 11"
                     /codon_start=1
                     /product="ATP-sensitive inward rectifier potassium channel
                     11 isoform 1"
                     /protein_id="NP_000516.3"
                     /db_xref="CCDS:CCDS31436.1"
                     /db_xref="GeneID:3767"
                     /db_xref="HGNC:HGNC:6257"
                     /db_xref="MIM:600937"
                     /translation="MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVA
                     HKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFLCSWLLFAMAWWLIAFAHGDLAPSE
                     GTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIM
                     LGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRK
                     TTSPEGEVVPLHQVDIPMENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDL
                     EIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYSVDYSKFGNTVKVP
                     TPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS"
     misc_feature    773..847
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14654.3);
                     transmembrane region"
     misc_feature    956..973
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14654.3);
                     Region: Selectivity filter. /evidence=ECO:0000250"
     misc_feature    1001..1066
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14654.3);
                     transmembrane region"
     misc_feature    1046..1048
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="Role in the control of polyamine-mediated channel
                     gating and in the blocking by intracellular magnesium.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (Q14654.3); other site"
     misc_feature    1589..1591
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="Phosphothreonine, by MAPK1.
                     /evidence=ECO:0000269|PubMed:18280666; propagated from
                     UniProtKB/Swiss-Prot (Q14654.3); phosphorylation site"
     misc_feature    1721..1723
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="Phosphoserine, by MAPK1.
                     /evidence=ECO:0000269|PubMed:18280666; propagated from
                     UniProtKB/Swiss-Prot (Q14654.3); phosphorylation site"
     regulatory      2781..2786
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="hexamer: AATAAA"
     polyA_site      2807
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="major polyA site"
     regulatory      3400..3405
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="hexamer: AACAAG"
     polyA_site      3412
                     /gene="KCNJ11"
                     /gene_synonym="BIR; HHF2; IKATP; KIR6.2; MODY13; PHHI;
                     PNDM2; TNDM3"
                     /note="major polyA site"
ORIGIN
        1 ggcagggttg ggggctccct aggcgccagg caggtgggct caagggtgag gctgtttttt
       61 ttgttttgtt ttttgttttt gagacggagt ctcgctctgt cgcccaggct ggagtgcagt
      121 ggcgtgatct tggctcactg caacctccgc ctctcgggtt caagcgattc tcctgcctca
      181 gcttcctgag tagctgggat tacaggtgcg caccaccatg cccggctaac ttttgtattt
      241 ttagtagaga tggggtttca ccatgttggt caggctggtc tcgaactcct gacctagtga
      301 tctgccctcc tcagcctccc aacgtactgg gattacaggc gtgagccacc gcgcccggcc
      361 tgaggctggt attaagaagt gaagtgggac ccaggtggag gtaaggaaga gtctggtggg
      421 gagttatctc agaagtgagg ccagcacagg ctgagtgcag ccccagggtg agaaggtgcc
      481 caccgagagg actctgcagt gaggccctag gccacgtccg aggggtgcct ccgatggggg
      541 aagcccctcc ctgggggtca ccggagccat gctgtcccgc aagggcatca tccccgagga
      601 atacgtgctg acacgcctgg cagaggaccc tgccaagccc aggtaccgtg cccgccagcg
      661 gagggcccgc tttgtgtcca agaaaggcaa ctgcaacgtg gcccacaaga acatccggga
      721 gcagggccgc ttcctgcagg acgtgttcac cacgctggtg gacctcaagt ggccacacac
      781 attgctcatc ttcaccatgt ccttcctgtg cagctggctg ctcttcgcca tggcctggtg
      841 gctcatcgcc ttcgcccacg gtgacctggc ccccagcgag ggcactgctg agccctgtgt
      901 caccagcatc cactccttct cgtctgcctt ccttttctcc attgaggtcc aagtgactat
      961 tggctttggg gggcgcatgg tgactgagga gtgcccactg gccatcctga tcctcatcgt
     1021 gcagaacatc gtggggctca tgatcaacgc catcatgctt ggctgcatct tcatgaagac
     1081 tgcccaagcc caccgcaggg ctgagaccct catcttcagc aagcatgcgg tgatcgccct
     1141 gcgccacggc cgcctctgct tcatgctacg tgtgggtgac ctccgcaaga gcatgatcat
     1201 cagcgccacc atccacatgc aggtggtacg caagaccacc agccccgagg gcgaggtggt
     1261 gcccctccac caggtggaca tccccatgga gaacggcgtg ggtggcaaca gcatcttcct
     1321 ggtggccccg ctgatcatct accatgtcat tgatgccaac agcccactct acgacctggc
     1381 acccagcgac ctgcaccacc accaggacct cgagatcatc gtcatcctgg aaggcgtggt
     1441 ggaaaccacg ggcatcacca cccaggcccg cacctcctac ctggccgatg agatcctgtg
     1501 gggccagcgc tttgtgccca ttgtagctga ggaggacgga cgttactctg tggactactc
     1561 caagtttggc aacaccgtca aagtgcccac accactctgc acggcccgcc agcttgatga
     1621 ggaccacagc ctactggaag ctctgaccct cgcctcagcc cgcgggcccc tgcgcaagcg
     1681 cagcgtgccc atggccaagg ccaagcccaa gttcagcatc tctccagatt ccctgtcctg
     1741 agccatggtc tctcgggccc cccacacgcg tgtgtacaca cggaccatgt ggtatgtagc
     1801 ccggccaggg cctggtgtga ggctgggcca gcctcagctc agcctccccc tgctgctcat
     1861 ccagggtgtt acaaggcact tgtcactatg ctatttctgg cctcagcagg aacctgtact
     1921 gggttatttt tgtccctgct cctcccaacc caattcagga ctggctcacc cctctccccc
     1981 gcccaaggct gcagaggctg tgggaggtac tgggccctag agctgtgcgt ccagccagtc
     2041 ctgggtcccc acgattgacc agccacactc tgggccggtg gctggggaag aacaatcccc
     2101 gagggctgct gctttgcgtc tgtggctcca agaagtgcct gtggtcaggc cccagctcta
     2161 cttggtccct gaaaaagcac ctggctaagg gctgggcctg gccagcaggg agggcagttg
     2221 atgagagagg gtgttcccgc tggagggttg gtgctgtgga gcctacaccg gcagggacag
     2281 cctggggctg acagggctcc cctccgaggg ccagtttcag gtctggaagg ggaggaagca
     2341 ggggaaggtg acctgaggag gctcggcttt gtagagcccc gctcaggcac agggaggagg
     2401 agatgccagg gctcctgcct tttgccacat cggcctcgtg cagtgagggc tctgtgggct
     2461 ggggctgctg cccctgccta cctcctgcct gtccccagag gctgaggaga gggggtactg
     2521 tgcccaccac acatgattag gcctcagacc caactctggt cctggctcca caacagtggc
     2581 tgccactcac tttgtccaga aggtggcttg ggggtggata tctttgggtt gctggaaaag
     2641 gtgtgggaag gttcaggatg gtgggaggga ctgaggtccc tgaggtgaag aggcccttgg
     2701 tcctgacggg tttgacccgt gcctggaccc ttggagcagt gttgtgtgaa cttgcctaga
     2761 actctgcctt ctccgttgtc aataaagcct ccccctcatg acctaaactc tgggcttttc
     2821 ttgctgggga ggcagcaagc atgctggtgg gaagggaggc agggactggc agctgccacc
     2881 cccttcaaga ggcgccatag accctagcgg ggagggcagg ggagggacgg aaggctggca
     2941 cctcttccac cagttcaggg ggactttccc ctctcctgtc tcaggtggcc cagccctgtc
     3001 agcctgtctg gccaactcag cctttgggca ctcaccaggc tttgcagccc tgggctctgt
     3061 ctctactccc agggacctgc tggaaggctg gagtgcccag ggagaggtat agaggtgtca
     3121 taggcattag tgtagtaatt ggagcactaa ctctcgagcc aactgcctgg gttcgaatcc
     3181 tggctctagc tgtatgactt ttgtcaagta acttagcctc tctgtgtctc agttgcctct
     3241 tctataacat ggatgctaat agtacctacc tcatagaatt gttttggaag taaatgaaaa
     3301 atatgtaaaa tgctgaagtg cctggtctac agtaagtgct caataaatgt taactattgt
     3361 gattgctgct gaatcagcta catgctgagg aaacggccaa acaagtgtta aa
//
LOCUS       NM_000526               1636 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens keratin 14 (KRT14), mRNA.
ACCESSION   NM_000526
VERSION     NM_000526.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1636)
  AUTHORS   Verma A, Singh A, Singh MP, Nengroo MA, Saini KK, Satrusal SR, Khan
            MA, Chaturvedi P, Sinha A, Meena S, Singh AK and Datta D.
  TITLE     EZH2-H3K27me3 mediated KRT14 upregulation promotes TNBC peritoneal
            metastasis
  JOURNAL   Nat Commun 13 (1), 7344 (2022)
   PUBMED   36446780
  REMARK    GeneRIF: EZH2-H3K27me3 mediated KRT14 upregulation promotes TNBC
            peritoneal metastasis. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1636)
  AUTHORS   Vermeer MCSC, Sillje HHW, Pas HH, Andrei D, van der Meer P and
            Bolling MC.
  TITLE     Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex
            due to KLHL24 Gain-of-Function Variants
  JOURNAL   J Invest Dermatol 142 (8), 2271-2274 (2022)
   PUBMED   35031308
  REMARK    GeneRIF: Keratin 14 Degradation and Aging in Epidermolysis Bullosa
            Simplex due to KLHL24 Gain-of-Function Variants.
REFERENCE   3  (bases 1 to 1636)
  AUTHORS   Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM,
            Maltais L, Omary MB, Parry DA, Rogers MA and Wright MW.
  TITLE     New consensus nomenclature for mammalian keratins
  JOURNAL   J Cell Biol 174 (2), 169-174 (2006)
   PUBMED   16831889
REFERENCE   4  (bases 1 to 1636)
  AUTHORS   So,J.Y. and Teng,J.
  TITLE     Epidermolysis Bullosa Simplex
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301543
REFERENCE   5  (bases 1 to 1636)
  AUTHORS   Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS and Fuchs E.
  TITLE     Point mutations in human keratin 14 genes of epidermolysis bullosa
            simplex patients: genetic and functional analyses
  JOURNAL   Cell 66 (6), 1301-1311 (1991)
   PUBMED   1717157
REFERENCE   6  (bases 1 to 1636)
  AUTHORS   Rosenberg M, Fuchs E, Le Beau MM, Eddy RL and Shows TB.
  TITLE     Three epidermal and one simple epithelial type II keratin genes map
            to human chromosome 12
  JOURNAL   Cytogenet Cell Genet 57 (1), 33-38 (1991)
   PUBMED   1713141
REFERENCE   7  (bases 1 to 1636)
  AUTHORS   Rosenberg M, RayChaudhury A, Shows TB, Le Beau MM and Fuchs E.
  TITLE     A group of type I keratin genes on human chromosome 17:
            characterization and expression
  JOURNAL   Mol Cell Biol 8 (2), 722-736 (1988)
   PUBMED   2451124
REFERENCE   8  (bases 1 to 1636)
  AUTHORS   Marchuk,D., McCrohon,S. and Fuchs,E.
  TITLE     Complete sequence of a gene encoding a human type I keratin:
            sequences homologous to enhancer elements in the regulatory region
            of the gene
  JOURNAL   Proc Natl Acad Sci U S A 82 (6), 1609-1613 (1985)
   PUBMED   2580298
REFERENCE   9  (bases 1 to 1636)
  AUTHORS   Marchuk,D., McCrohon,S. and Fuchs,E.
  TITLE     Remarkable conservation of structure among intermediate filament
            genes
  JOURNAL   Cell 39 (3 Pt 2), 491-498 (1984)
   PUBMED   6210150
REFERENCE   10  (bases 1 to 1636)
  AUTHORS   Hanukoglu,I. and Fuchs,E.
  TITLE     The cDNA sequence of a human epidermal keratin: divergence of
            sequence but conservation of structure among intermediate filament
            proteins
  JOURNAL   Cell 31 (1), 243-252 (1982)
   PUBMED   6186381
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC094830.1, BC019097.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145893,
            SAMEA2147596 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000167586.7/ ENSP00000167586.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Michael Rogers. The reference sequence was
            derived from AC019349.28.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000526.4.
            Summary: This gene encodes a member of the keratin family, the most
            diverse group of intermediate filaments. This gene product, a type
            I keratin, is usually found as a heterotetramer with two keratin 5
            molecules, a type II keratin. Together they form the cytoskeleton
            of epithelial cells. Mutations in the genes for these keratins are
            associated with epidermolysis bullosa simplex. At least one
            pseudogene has been identified at 17p12-p11. [provided by RefSeq,
            Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1636
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..1636
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="keratin 14"
                     /db_xref="GeneID:3861"
                     /db_xref="HGNC:HGNC:6416"
                     /db_xref="MIM:148066"
     CDS             62..1480
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="cytokeratin 14; keratin 14, type I"
                     /codon_start=1
                     /product="keratin, type I cytoskeletal 14"
                     /protein_id="NP_000517.3"
                     /db_xref="CCDS:CCDS11400.1"
                     /db_xref="GeneID:3861"
                     /db_xref="HGNC:HGNC:6416"
                     /db_xref="MIM:148066"
                     /translation="MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPST
                     YGGGLSVSSSRFSSGGACGLGGGYGGGFSSSSSSFGSGFGGGYGGGLGAGLGGGFGGGF
                     AGGDGLLVGSEKVTMQNLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIKDYS
                     PYFKTIEDLRNKILTATVDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLR
                     RVLDELTLARADLEMQIESLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLS
                     RILNEMRDQYEKMAEKNRKDAEEWFFTKTEELNREVATNSELVQSGKSEISELRRTMQN
                     LEIELQSQLSMKASLENSLEETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYK
                     ILLDVKTRLEQEIATYRRLLEGEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDG
                     KVVSTHEQVLRTKN"
     misc_feature    62..403
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4);
                     Region: Head"
     misc_feature    404..511
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4);
                     Region: Coil 1A"
     misc_feature    512..565
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4);
                     Region: Linker 1"
     misc_feature    566..841
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4);
                     Region: Coil 1B"
     misc_feature    842..910
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4);
                     Region: Linker 12"
     misc_feature    911..1327
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4);
                     Region: Coil 2"
     misc_feature    1151..1153
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="Stutter; propagated from UniProtKB/Swiss-Prot
                     (P02533.4); other site"
     misc_feature    1328..1477
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4);
                     Region: Tail"
     misc_feature    1334..1477
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4);
                     Region: Interaction with Type I keratins and keratin
                     filaments"
     misc_feature    1337..1477
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="propagated from UniProtKB/Swiss-Prot (P02533.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1364..1366
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61781; propagated from
                     UniProtKB/Swiss-Prot (P02533.4); phosphorylation site"
     regulatory      1608..1613
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="hexamer: AATACA"
     polyA_site      1636
                     /gene="KRT14"
                     /gene_synonym="CK14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D;
                     EBS3; EBS4; K14; NFJ"
                     /note="major polyA site"
ORIGIN
        1 acccgagcac cttctcttca ctcagccaac tgctcgctcg ctcacctccc tcctctgcac
       61 catgaccacc tgcagccgcc agttcacctc ctccagctcc atgaagggct cctgcggcat
      121 cgggggcggc atcgggggcg gctccagccg catctcctcc gtcctggccg gagggtcctg
      181 ccgcgccccc agcacctacg ggggcggcct gtctgtctca tcctcccgct tctcctctgg
      241 gggagcctgc gggctggggg gcggctatgg cggtggcttc agcagcagca gcagcagctt
      301 tggtagtggc tttgggggag gatatggtgg tggccttggt gctggcttgg gtggtggctt
      361 tggtggtggc tttgctggtg gtgatgggct tctggtgggc agtgagaagg tgaccatgca
      421 gaacctcaat gaccgcctgg cctcctacct ggacaaggtg cgtgctctgg aggaggccaa
      481 cgccgacctg gaagtgaaga tccgtgactg gtaccagagg cagcggcctg ctgagatcaa
      541 agactacagt ccctacttca agaccattga ggacctgagg aacaagattc tcacagccac
      601 agtggacaat gccaatgtcc ttctgcagat tgacaatgcc cgtctggccg cggatgactt
      661 ccgcaccaag tatgagacag agttgaacct gcgcatgagt gtggaagccg acatcaatgg
      721 cctgcgcagg gtgctggacg aactgaccct ggccagagct gacctggaga tgcagattga
      781 gagcctgaag gaggagctgg cctacctgaa gaagaaccac gaggaggaga tgaatgccct
      841 gagaggccag gtgggtggag atgtcaatgt ggagatggac gctgcacctg gcgtggacct
      901 gagccgcatt ctgaacgaga tgcgtgacca gtatgagaag atggcagaga agaaccgcaa
      961 ggatgccgag gaatggttct tcaccaagac agaggagctg aaccgcgagg tggccaccaa
     1021 cagcgagctg gtgcagagcg gcaagagcga gatctcggag ctccggcgca ccatgcagaa
     1081 cctggagatt gagctgcagt cccagctcag catgaaagca tccctggaga acagcctgga
     1141 ggagaccaaa ggtcgctact gcatgcagct ggcccagatc caggagatga ttggcagcgt
     1201 ggaggagcag ctggcccagc tccgctgcga gatggagcag cagaaccagg agtacaagat
     1261 cctgctggac gtgaagacgc ggctggagca ggagatcgcc acctaccgcc gcctgctgga
     1321 gggcgaggac gcccacctct cctcctccca gttctcctct ggatcgcagt catccagaga
     1381 tgtgacctcc tccagccgcc aaatccgcac caaggtcatg gatgtgcacg atggcaaggt
     1441 ggtgtccacc cacgagcagg tccttcgcac caagaactga ggctgcccag ccccgctcag
     1501 gcctaggagg ccccccgtgt ggacacagat cccactggaa gatcccctct cctgcccaag
     1561 cacttcacag ctggaccctg cttcaccctc accccctcct ggcaatcaat acagcttcat
     1621 tatctgagtt gcataa
//
LOCUS       NM_000527               5173 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens low density lipoprotein receptor (LDLR), transcript
            variant 1, mRNA.
ACCESSION   NM_000527
VERSION     NM_000527.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5173)
  AUTHORS   Morales SV, Mahmood A, Pollard J, Mayne J, Figeys D and Wiseman PW.
  TITLE     The LDL receptor is regulated by membrane cholesterol as revealed by
            fluorescence fluctuation analysis
  JOURNAL   Biophys J 122 (18), 3783-3797 (2023)
   PUBMED   37559362
  REMARK    GeneRIF: The LDL receptor is regulated by membrane cholesterol as
            revealed by fluorescence fluctuation analysis.
REFERENCE   2  (bases 1 to 5173)
  AUTHORS   Uppal S, Postnikova O, Villasmil R, Rogozin IB, Bocharov AV,
            Eggerman TL, Poliakov E and Redmond TM.
  TITLE     Low-Density Lipoprotein Receptor (LDLR) Is Involved in
            Internalization of Lentiviral Particles Pseudotyped with SARS-CoV-2
            Spike Protein in Ocular Cells
  JOURNAL   Int J Mol Sci 24 (14), 11860 (2023)
   PUBMED   37511618
  REMARK    GeneRIF: Low-Density Lipoprotein Receptor (LDLR) Is Involved in
            Internalization of Lentiviral Particles Pseudotyped with SARS-CoV-2
            Spike Protein in Ocular Cells. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5173)
  AUTHORS   Chen Y, Cai H, Zhang J, Su Y, Wu Y, Lin Z and Zhang Z.
  TITLE     Linkage Disequilibrium between LDLR rs688 and AvaII Genes and its
            Significant Association with Ischemic Stroke
  JOURNAL   J Integr Neurosci 22 (4), 94 (2023)
   PUBMED   37519169
  REMARK    GeneRIF: Linkage Disequilibrium between LDLR rs688 and AvaII Genes
            and its Significant Association with Ischemic Stroke.
REFERENCE   4  (bases 1 to 5173)
  AUTHORS   Ison,H.E., Clarke,S.L. and Knowles,J.W.
  TITLE     Familial Hypercholesterolemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24404629
REFERENCE   5  (bases 1 to 5173)
  AUTHORS   Hobbs HH, Brown MS and Goldstein JL.
  TITLE     Molecular genetics of the LDL receptor gene in familial
            hypercholesterolemia
  JOURNAL   Hum Mutat 1 (6), 445-466 (1992)
   PUBMED   1301956
  REMARK    Review article
REFERENCE   6  (bases 1 to 5173)
  AUTHORS   Lindgren,V., Luskey,K.L., Russell,D.W. and Francke,U.
  TITLE     Human genes involved in cholesterol metabolism: chromosomal mapping
            of the loci for the low density lipoprotein receptor and
            3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes
  JOURNAL   Proc Natl Acad Sci U S A 82 (24), 8567-8571 (1985)
   PUBMED   3866240
REFERENCE   7  (bases 1 to 5173)
  AUTHORS   Sudhof,T.C., Goldstein,J.L., Brown,M.S. and Russell,D.W.
  TITLE     The LDL receptor gene: a mosaic of exons shared with different
            proteins
  JOURNAL   Science 228 (4701), 815-822 (1985)
   PUBMED   2988123
REFERENCE   8  (bases 1 to 5173)
  AUTHORS   Yamamoto,T., Davis,C.G., Brown,M.S., Schneider,W.J., Casey,M.L.,
            Goldstein,J.L. and Russell,D.W.
  TITLE     The human LDL receptor: a cysteine-rich protein with multiple Alu
            sequences in its mRNA
  JOURNAL   Cell 39 (1), 27-38 (1984)
   PUBMED   6091915
REFERENCE   9  (bases 1 to 5173)
  AUTHORS   Brown,M.S. and Goldstein,J.L.
  TITLE     Receptor-mediated endocytosis: insights from the lipoprotein
            receptor system
  JOURNAL   Proc Natl Acad Sci U S A 76 (7), 3330-3337 (1979)
   PUBMED   226968
  REMARK    Review article
REFERENCE   10  (bases 1 to 5173)
  AUTHORS   Goldstein,J.L., Anderson,R.G. and Brown,M.S.
  TITLE     Coated pits, coated vesicles, and receptor-mediated endocytosis
  JOURNAL   Nature 279 (5715), 679-685 (1979)
   PUBMED   221835
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.16477.1, BC014514.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000558518.6/ ENSP00000454071.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC306821.1, AY114155.1,
            AC011485.6 and BM785950.1.
            On Aug 31, 2019 this sequence version replaced NM_000527.4.
            Summary: The low density lipoprotein receptor (LDLR) gene family
            consists of cell surface proteins involved in receptor-mediated
            endocytosis of specific ligands. The encoded protein is normally
            bound at the cell membrane, where it binds low density
            lipoprotein/cholesterol and is taken into the cell. Lysosomes
            release the cholesterol, which is made available for repression of
            microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA)
            reductase, the rate-limiting step in cholesterol synthesis. At the
            same time, a reciprocal stimulation of cholesterol ester synthesis
            takes place. Mutations in this gene cause the autosomal dominant
            disorder, familial hypercholesterolemia. Alternate splicing results
            in multiple transcript variants.[provided by RefSeq, May 2022].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5173
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..5173
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="low density lipoprotein receptor"
                     /db_xref="GeneID:3949"
                     /db_xref="HGNC:HGNC:6547"
                     /db_xref="MIM:606945"
     misc_feature    48..50
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="upstream in-frame stop codon"
     CDS             87..2669
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; LDL receptor; low-density lipoprotein receptor class A
                     domain-containing protein 3"
                     /codon_start=1
                     /product="low-density lipoprotein receptor isoform 1
                     precursor"
                     /protein_id="NP_000518.1"
                     /db_xref="CCDS:CCDS12254.1"
                     /db_xref="GeneID:3949"
                     /db_xref="HGNC:HGNC:6547"
                     /db_xref="MIM:606945"
                     /translation="MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWV
                     CDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGC
                     PPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQ
                     LWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDC
                     KDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNK
                     FKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLC
                     PDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIA
                     YLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDR
                     AHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGS
                     KPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLY
                     WVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLT
                     GSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKF
                     TCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLP
                     GATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKN
                     WRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA"
     sig_peptide     87..149
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
     mat_peptide     150..2666
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /product="low-density lipoprotein receptor isoform 1"
     misc_feature    375..377
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P01130.1); glycosylation site"
     misc_feature    552..554
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19520913; propagated from
                     UniProtKB/Swiss-Prot (P01130.1); glycosylation site"
     misc_feature    900..902
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19520913; propagated from
                     UniProtKB/Swiss-Prot (P01130.1); glycosylation site"
     misc_feature    1275..1400
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="propagated from UniProtKB/Swiss-Prot (P01130.1);
                     Region: LDL-receptor class B 1"
     misc_feature    1401..1541
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="propagated from UniProtKB/Swiss-Prot (P01130.1);
                     Region: LDL-receptor class B 2"
     misc_feature    1542..1670
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="propagated from UniProtKB/Swiss-Prot (P01130.1);
                     Region: LDL-receptor class B 3"
     misc_feature    1629..1631
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P01130.1); glycosylation site"
     misc_feature    1671..1802
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="propagated from UniProtKB/Swiss-Prot (P01130.1);
                     Region: LDL-receptor class B 4"
     misc_feature    1803..1931
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="propagated from UniProtKB/Swiss-Prot (P01130.1);
                     Region: LDL-receptor class B 5"
     misc_feature    1932..2060
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="propagated from UniProtKB/Swiss-Prot (P01130.1);
                     Region: LDL-receptor class B 6"
     misc_feature    2055..2057
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (P01130.1);
                     glycosylation site"
     misc_feature    2247..2390
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="propagated from UniProtKB/Swiss-Prot (P01130.1);
                     Region: Clustered O-linked oligosaccharides"
     misc_feature    2256..2258
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P35952; propagated from
                     UniProtKB/Swiss-Prot (P01130.1); phosphorylation site"
     misc_feature    2286..2351
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="propagated from UniProtKB/Swiss-Prot (P01130.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2451..2516
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="propagated from UniProtKB/Swiss-Prot (P01130.1);
                     transmembrane region"
     misc_feature    2517..2666
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="propagated from UniProtKB/Swiss-Prot (P01130.1);
                     Region: Required for MYLIP-triggered down-regulation of
                     LDLR. /evidence=ECO:0000269|PubMed:19520913"
     misc_feature    2553..2570
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="propagated from UniProtKB/Swiss-Prot (P01130.1);
                     Region: NPXY motif. /evidence=ECO:0000269|PubMed:22509010"
     regulatory      5151..5156
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="hexamer: ATTAAA"
     polyA_site      5173
                     /gene="LDLR"
                     /gene_synonym="FH; FHC; FHCL1; LDLCQ2"
                     /note="major polyA site"
ORIGIN
        1 gtgcaatcgc gggaagccag ggtttccagc taggacacag caggtcgtga tccgggtcgg
       61 gacactgcct ggcagaggct gcgagcatgg ggccctgggg ctggaaattg cgctggaccg
      121 tcgccttgct cctcgccgcg gcggggactg cagtgggcga cagatgcgaa agaaacgagt
      181 tccagtgcca agacgggaaa tgcatctcct acaagtgggt ctgcgatggc agcgctgagt
      241 gccaggatgg ctctgatgag tcccaggaga cgtgcttgtc tgtcacctgc aaatccgggg
      301 acttcagctg tgggggccgt gtcaaccgct gcattcctca gttctggagg tgcgatggcc
      361 aagtggactg cgacaacggc tcagacgagc aaggctgtcc ccccaagacg tgctcccagg
      421 acgagtttcg ctgccacgat gggaagtgca tctctcggca gttcgtctgt gactcagacc
      481 gggactgctt ggacggctca gacgaggcct cctgcccggt gctcacctgt ggtcccgcca
      541 gcttccagtg caacagctcc acctgcatcc cccagctgtg ggcctgcgac aacgaccccg
      601 actgcgaaga tggctcggat gagtggccgc agcgctgtag gggtctttac gtgttccaag
      661 gggacagtag cccctgctcg gccttcgagt tccactgcct aagtggcgag tgcatccact
      721 ccagctggcg ctgtgatggt ggccccgact gcaaggacaa atctgacgag gaaaactgcg
      781 ctgtggccac ctgtcgccct gacgaattcc agtgctctga tggaaactgc atccatggca
      841 gccggcagtg tgaccgggaa tatgactgca aggacatgag cgatgaagtt ggctgcgtta
      901 atgtgacact ctgcgaggga cccaacaagt tcaagtgtca cagcggcgaa tgcatcaccc
      961 tggacaaagt ctgcaacatg gctagagact gccgggactg gtcagatgaa cccatcaaag
     1021 agtgcgggac caacgaatgc ttggacaaca acggcggctg ttcccacgtc tgcaatgacc
     1081 ttaagatcgg ctacgagtgc ctgtgccccg acggcttcca gctggtggcc cagcgaagat
     1141 gcgaagatat cgatgagtgt caggatcccg acacctgcag ccagctctgc gtgaacctgg
     1201 agggtggcta caagtgccag tgtgaggaag gcttccagct ggacccccac acgaaggcct
     1261 gcaaggctgt gggctccatc gcctacctct tcttcaccaa ccggcacgag gtcaggaaga
     1321 tgacgctgga ccggagcgag tacaccagcc tcatccccaa cctgaggaac gtggtcgctc
     1381 tggacacgga ggtggccagc aatagaatct actggtctga cctgtcccag agaatgatct
     1441 gcagcaccca gcttgacaga gcccacggcg tctcttccta tgacaccgtc atcagcagag
     1501 acatccaggc ccccgacggg ctggctgtgg actggatcca cagcaacatc tactggaccg
     1561 actctgtcct gggcactgtc tctgttgcgg ataccaaggg cgtgaagagg aaaacgttat
     1621 tcagggagaa cggctccaag ccaagggcca tcgtggtgga tcctgttcat ggcttcatgt
     1681 actggactga ctggggaact cccgccaaga tcaagaaagg gggcctgaat ggtgtggaca
     1741 tctactcgct ggtgactgaa aacattcagt ggcccaatgg catcacccta gatctcctca
     1801 gtggccgcct ctactgggtt gactccaaac ttcactccat ctcaagcatc gatgtcaacg
     1861 ggggcaaccg gaagaccatc ttggaggatg aaaagaggct ggcccacccc ttctccttgg
     1921 ccgtctttga ggacaaagta ttttggacag atatcatcaa cgaagccatt ttcagtgcca
     1981 accgcctcac aggttccgat gtcaacttgt tggctgaaaa cctactgtcc ccagaggata
     2041 tggttctctt ccacaacctc acccagccaa gaggagtgaa ctggtgtgag aggaccaccc
     2101 tgagcaatgg cggctgccag tatctgtgcc tccctgcccc gcagatcaac ccccactcgc
     2161 ccaagtttac ctgcgcctgc ccggacggca tgctgctggc cagggacatg aggagctgcc
     2221 tcacagaggc tgaggctgca gtggccaccc aggagacatc caccgtcagg ctaaaggtca
     2281 gctccacagc cgtaaggaca cagcacacaa ccacccgacc tgttcccgac acctcccggc
     2341 tgcctggggc cacccctggg ctcaccacgg tggagatagt gacaatgtct caccaagctc
     2401 tgggcgacgt tgctggcaga ggaaatgaga agaagcccag tagcgtgagg gctctgtcca
     2461 ttgtcctccc catcgtgctc ctcgtcttcc tttgcctggg ggtcttcctt ctatggaaga
     2521 actggcggct taagaacatc aacagcatca actttgacaa ccccgtctat cagaagacca
     2581 cagaggatga ggtccacatt tgccacaacc aggacggcta cagctacccc tcgagacaga
     2641 tggtcagtct ggaggatgac gtggcgtgaa catctgcctg gagtcccgtc cctgcccaga
     2701 acccttcctg agacctcgcc ggccttgttt tattcaaaga cagagaagac caaagcattg
     2761 cctgccagag ctttgtttta tatatttatt catctgggag gcagaacagg cttcggacag
     2821 tgcccatgca atggcttggg ttgggatttt ggtttcttcc tttcctcgtg aaggataaga
     2881 gaaacaggcc cggggggacc aggatgacac ctccatttct ctccaggaag ttttgagttt
     2941 ctctccaccg tgacacaatc ctcaaacatg gaagatgaaa ggggagggga tgtcaggccc
     3001 agagaagcaa gtggctttca acacacaaca gcagatggca ccaacgggac cccctggccc
     3061 tgcctcatcc accaatctct aagccaaacc cctaaactca ggagtcaacg tgtttacctc
     3121 ttctatgcaa gccttgctag acagccaggt tagcctttgc cctgtcaccc ccgaatcatg
     3181 acccacccag tgtctttcga ggtgggtttg taccttcctt aagccaggaa agggattcat
     3241 ggcgtcggaa atgatctggc tgaatccgtg gtggcaccga gaccaaactc attcaccaaa
     3301 tgatgccact tcccagaggc agagcctgag tcactggtca cccttaatat ttattaagtg
     3361 cctgagacac ccggttacct tggccgtgag gacacgtggc ctgcacccag gtgtggctgt
     3421 caggacacca gcctggtgcc catcctcccg acccctaccc acttccattc ccgtggtctc
     3481 cttgcacttt ctcagttcag agttgtacac tgtgtacatt tggcatttgt gttattattt
     3541 tgcactgttt tctgtcgtgt gtgttgggat gggatcccag gccagggaaa gcccgtgtca
     3601 atgaatgccg gggacagaga ggggcaggtt gaccgggact tcaaagccgt gatcgtgaat
     3661 atcgagaact gccattgtcg tctttatgtc cgcccaccta gtgcttccac ttctatgcaa
     3721 atgcctccaa gccattcact tccccaatct tgtcgttgat gggtatgtgt ttaaaacatg
     3781 cacggtgagg ccgggcgcag tggctcacgc ctgtaatccc agcactttgg gaggccgagg
     3841 cgggtggatc atgaggtcag gagatcgaga ccatcctggc taacacgtga aaccccgtct
     3901 ctactaaaaa tacaaaaaat tagccgggcg tggtggcggg cacctgtagt cccagctact
     3961 cgggaggctg aggcaggaga atggtgtgaa cccgggaagc ggagcttgca gtgagccgag
     4021 attgcgccac tgcagtccgc agtctggcct gggcgacaga gcgagactcc gtctcaaaaa
     4081 aaaaaaacaa aaaaaaacca tgcatggtgc atcagcagcc catggcctct ggccaggcat
     4141 ggcgaggctg aggtgggagg atggtttgag ctcaggcatt tgaggctgtc gtgagctatg
     4201 attatgccac tgctttccag cctgggcaac atagtaagac cccatctctt aaaaaatgaa
     4261 tttggccaga cacaggtgcc tcacgcctgt aatcccagca ctttgggagg ctgagctgga
     4321 tcacttgagt tcaggagttg gagaccaggc ctgagcaaca aagcgagatc ccatctctac
     4381 aaaaaccaaa aagttaaaaa tcagctgggt acggtggcac gtgcctgtga tcccagctac
     4441 ttgggaggct gaggcaggag gatcgcctga gcccaggagg tggaggttgc agtgagccat
     4501 gatcgagcca ctgcactcca gcctgggcaa cagatgaaga ccctatttca gaaatacaac
     4561 tataaaaaaa taaataaatc ctccagtctg gatcgtttga cgggacttca ggttctttct
     4621 gaaatcgccg tgttactgtt gcactgatgt ccggagagac agtgacagcc tccgtcagac
     4681 tcccgcgtga agatgtcaca agggattggc aattgtcccc agggacaaaa cactgtgtcc
     4741 cccccagtgc agggaaccgt gataagcctt tctggtttcg gagcacgtaa atgcgtccct
     4801 gtacagatag tggggatttt ttgttatgtt tgcactttgt atattggttg aaactgttat
     4861 cacttatata tatatatata cacacatata tataaaatct atttattttt gcaaaccctg
     4921 gttgctgtat ttgttcagtg actattctcg gggccctgtg tagggggtta ttgcctctga
     4981 aatgcctctt ctttatgtac aaagattatt tgcacgaact ggactgtgtg caacgctttt
     5041 tgggagaatg atgtccccgt tgtatgtatg agtggcttct gggagatggg tgtcactttt
     5101 taaaccactg tatagaaggt ttttgtagcc tgaatgtctt actgtgatca attaaatttc
     5161 ttaaatgaac caa
//
LOCUS       NM_000528               3185 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens mannosidase alpha class 2B member 1 (MAN2B1),
            transcript variant 1, mRNA.
ACCESSION   NM_000528
VERSION     NM_000528.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3185)
  AUTHORS   Lehalle D, Colombo R, O'Grady M, Heron B, Houcinat N, Kuentz P,
            Moutton S, Sorlin A, Thevenon J, Delanne J, Gay S, Racine C, Garde
            A, Tran Mau-Them F, Philippe C, Vitobello A, Nambot S, Huet F,
            Duffourd Y, Feillet F, Thauvin-Robinet C, Marlin S and Faivre L.
  TITLE     Hearing impairment as an early sign of alpha-mannosidosis in
            children with a mild phenotype: Report of seven new cases
  JOURNAL   Am J Med Genet A 179 (9), 1756-1763 (2019)
   PUBMED   31241255
  REMARK    GeneRIF: A diagnosis can be established by measuring the activity of
            lysosomal alpha-mannosidase in leucocytes and screening for abnormal
            urinary excretion of mannose-rich oligosaccharides. Genetic
            confirmation is obtained with the identification of MAN2B1
            mutations.
REFERENCE   2  (bases 1 to 3185)
  AUTHORS   Yu P, Cui Y, Cai W, Wu H, Xiao X, Shao Q, Ma L, Guo S, Wu N, Jin ZB,
            Wang Y, Cai T, Sun ZS and Qu J.
  TITLE     Lysosomal storage disease in the brain: mutations of the
            beta-mannosidase gene identified in autosomal dominant nystagmus
  JOURNAL   Genet Med 17 (12), 971-979 (2015)
   PUBMED   25741867
  REMARK    GeneRIF: A novel heterozygous mutation (c.2013G>A; p.R638H) of MANBA
            was identified in patients with autosomal-dominant nystagmus. An
            additional mutation (c.2346T>A; p.L749H) in MANBA was found by
            screening patients with sporadic nystagmus.
REFERENCE   3  (bases 1 to 3185)
  AUTHORS   Borgwardt L, Stensland HM, Olsen KJ, Wibrand F, Klenow HB, Beck M,
            Amraoui Y, Arash L, Fogh J, Nilssen O, Dali CI and Lund AM.
  TITLE     Alpha-mannosidosis: correlation between phenotype, genotype and
            mutant MAN2B1 subcellular localisation
  JOURNAL   Orphanet J Rare Dis 10, 70 (2015)
   PUBMED   26048034
  REMARK    GeneRIF: Our results indicate a correlation between the MAN2B1
            genotypes and the cognitive function, upper limb coordination,
            balance, FVC% and the storage of oligosaccharides in CSF.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3185)
  AUTHORS   Thaysen-Andersen M, Venkatakrishnan V, Loke I, Laurini C, Diestel S,
            Parker BL and Packer NH.
  TITLE     Human neutrophils secrete bioactive paucimannosidic proteins from
            azurophilic granules into pathogen-infected sputum
  JOURNAL   J Biol Chem 290 (14), 8789-8802 (2015)
   PUBMED   25645918
REFERENCE   5  (bases 1 to 3185)
  AUTHORS   Manichaikul A, Hoffman EA, Smolonska J, Gao W, Cho MH, Baumhauer H,
            Budoff M, Austin JH, Washko GR, Carr JJ, Kaufman JD, Pottinger T,
            Powell CA, Wijmenga C, Zanen P, Groen HJ, Postma DS, Wanner A,
            Rouhani FN, Brantly ML, Powell R, Smith BM, Rabinowitz D, Raffel LJ,
            Hinckley Stukovsky KD, Crapo JD, Beaty TH, Hokanson JE, Silverman
            EK, Dupuis J, O'Connor GT, Boezen HM, Rich SS and Barr RG.
  TITLE     Genome-wide study of percent emphysema on computed tomography in the
            general population. The Multi-Ethnic Study of Atherosclerosis
            Lung/SNP Health Association Resource Study
  JOURNAL   Am J Respir Crit Care Med 189 (4), 408-418 (2014)
   PUBMED   24383474
REFERENCE   6  (bases 1 to 3185)
  AUTHORS   Emiliani C, Martino S, Stirling JL, Maras B and Orlacchio A.
  TITLE     Partial sequence of the purified protein confirms the identity of
            cDNA coding for human lysosomal alpha-mannosidase B
  JOURNAL   Biochem J 305 (Pt 2) (Pt 2), 363-366 (1995)
   PUBMED   7832746
REFERENCE   7  (bases 1 to 3185)
  AUTHORS   Malm,D. and Nilssen,O.
  TITLE     Alpha-Mannosidosis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301570
REFERENCE   8  (bases 1 to 3185)
  AUTHORS   Kaneda,Y., Hayes,H., Uchida,T., Yoshida,M.C. and Okada,Y.
  TITLE     Regional assignment of five genes on human chromosome 19
  JOURNAL   Chromosoma 95 (1), 8-12 (1987)
   PUBMED   3034518
REFERENCE   9  (bases 1 to 3185)
  AUTHORS   Champion,M.J. and Shows,T.B.
  TITLE     Electrophoretic abnormalities of lysosomal enzymes in mucolipidosis
            fibroblast lines
  JOURNAL   Am J Hum Genet 29 (2), 149-163 (1977)
   PUBMED   848490
REFERENCE   10  (bases 1 to 3185)
  AUTHORS   Phillips,N.C., Robinson,D. and Winchester,B.G.
  TITLE     Characterization of human liver alpha-D-mannosidase purified by
            affinity chromatography
  JOURNAL   Biochem J 153 (3), 579-587 (1976)
   PUBMED   821469
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK291572.1, SRR1803612.260285.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000456935.7/ ENSP00000395473.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB237901.1 and BC000736.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000528.3.
            Summary: This gene encodes an enzyme that hydrolyzes terminal,
            non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its
            activity is necessary for the catabolism of N-linked carbohydrates
            released during glycoprotein turnover and it is member of family 38
            of glycosyl hydrolases. The full length protein is processed in two
            steps. First, a 49 aa leader sequence is cleaved off and the
            remainder of the protein is processed into 3 peptides of 70 kDa, 42
            kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further
            processed into three peptides (A, B and C). The A, B and C peptides
            are disulfide-linked. Defects in this gene have been associated
            with lysosomal alpha-mannosidosis. Alternatively spliced transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, Mar 2010].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3185
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13"
     gene            1..3185
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="mannosidase alpha class 2B member 1"
                     /db_xref="GeneID:4125"
                     /db_xref="HGNC:HGNC:6826"
                     /db_xref="MIM:609458"
     misc_feature    36..38
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="upstream in-frame stop codon"
     CDS             42..3077
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /EC_number="3.2.1.24"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; mannosidase, alpha B, lysosomal; lysosomal acid
                     alpha-mannosidase; lysosomal alpha-mannosidase; mannosidase
                     alpha-B"
                     /codon_start=1
                     /product="lysosomal alpha-mannosidase isoform 1 precursor"
                     /protein_id="NP_000519.2"
                     /db_xref="CCDS:CCDS32919.1"
                     /db_xref="GeneID:4125"
                     /db_xref="HGNC:HGNC:6826"
                     /db_xref="MIM:609458"
                     /translation="MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAA
                     GARAGGYETCPTVQPNMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILDSV
                     ISALLADPTRRFIYVEIAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDEAAT
                     HYGAIVDQMTLGLRFLEDTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLD
                     YQDKWVRMQKLEMEQVWRASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVED
                     PRSPEYNAKELVDYFLNVATAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKLIRLVN
                     AQQAKGSSVHVLYSTPACYLWELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALK
                     RYERLSYNFLQVCNQLEALVGLAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVA
                     NDYARQLAAGWGPCEVLLSNALARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNP
                     LGRKVNWMVRLPVSEGVFVVKDPNGRTVPSDVVIFPSSDSQAHPPELLFSASLPALGFS
                     TYSVAQVPRWKPQARAPQPIPRRSWSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLL
                     PVRQTFFWYNASIGDNESDQASGAYIFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFS
                     AWCSQVVRLYPGQRHLELEWSVGPIPVGDTWGKEVISRFDTPLETKGRFYTDSNGREIL
                     ERRRDYRPTWKLNQTEPVAGNYYPVNTRIYITDGNMQLTVLTDRSQGGSSLRDGSLELM
                     VHRRLLKDDGRGVSEPLMENGSGAWVRGRHLVLLDTAQAAAAGHRLLAEQEVLAPQVVL
                     APGGGAAYNLGAPPRTQFSGLRRDLPPSVHLLTLASWGPEMVLLRLEHQFAVGEDSGRN
                     LSAPVTLNLRDLFSTFTITRLQETTLVANQLREAASRLKWTTNTGPTPHQTPYQLDPAN
                     ITLEPMEIRTFLASVQWKEVDG"
     sig_peptide     42..188
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     189..3074
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /product="lysosomal alpha-mannosidase isoform 1"
     mat_peptide     189..1076
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /product="lysosomal alpha-mannosidase A peptide"
     misc_feature    438..440
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00754.3); glycosylation site"
     misc_feature    969..971
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00754.3); glycosylation site"
     mat_peptide     1077..1328
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /product="lysosomal alpha-mannosidase B peptide"
     misc_feature    1140..1142
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (O00754.3); glycosylation site"
     mat_peptide     1329..1844
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /product="lysosomal alpha-mannosidase C peptide"
     misc_feature    1530..1532
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00754.3); glycosylation site"
     mat_peptide     1845..2687
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /product="lysosomal alpha-mannosidase D peptide"
     misc_feature    1974..1976
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00754.3); glycosylation site"
     misc_feature    1992..1994
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00754.3); glycosylation site"
     misc_feature    2115..2117
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00754.3); glycosylation site"
     misc_feature    2337..2339
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (O00754.3); glycosylation site"
     misc_feature    2535..2537
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00754.3); glycosylation site"
     mat_peptide     2688..3074
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /product="lysosomal alpha-mannosidase E peptide"
     misc_feature    2829..2831
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519; propagated from
                     UniProtKB/Swiss-Prot (O00754.3); glycosylation site"
     misc_feature    3006..3008
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00754.3); glycosylation site"
     regulatory      3161..3166
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="hexamer: ATTAAA"
     polyA_site      3185
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="major polyA site"
ORIGIN
        1 ctttccaggg ccggggaacc ccaggaggaa gctgctgagc catgggcgcc tacgcgcggg
       61 cttcgggggt ctgcgctcgc ggctgcctgg actcagcagg cccctggacc atgtcccgcg
      121 ccctgcggcc accgctcccg cctctctgct ttttcctttt gttgctggcg gctgccggtg
      181 ctcgggccgg gggatacgag acatgcccca cagtgcagcc gaacatgctg aacgtgcacc
      241 tgctgcctca cacacatgat gacgtgggct ggctcaaaac cgtggaccag tacttttatg
      301 gaatcaagaa tgacatccag cacgccggtg tgcagtacat cctggactcg gtcatctctg
      361 ccttgctggc agatcccacc cgtcgcttca tttacgtgga gattgccttc ttctcccgtt
      421 ggtggcacca gcagacaaat gccacacagg aagtcgtgcg agaccttgtg cgccaggggc
      481 gcctggagtt cgccaatggt ggctgggtga tgaacgatga ggcagccacc cactacggtg
      541 ccatcgtgga ccagatgaca cttgggctgc gctttctgga ggacacattt ggcaatgatg
      601 ggcgaccccg tgtggcctgg cacattgacc ccttcggcca ctctcgggag caggcctcgc
      661 tgtttgcgca gatgggcttc gacggcttct tctttgggcg ccttgattat caagataagt
      721 gggtacggat gcagaagctg gagatggagc aggtgtggcg ggccagcacc agcctgaagc
      781 ccccgaccgc ggacctcttc actggtgtgc ttcccaatgg ttacaacccg ccaaggaatc
      841 tgtgctggga tgtgctgtgt gtcgatcagc cgctggtgga ggaccctcgc agccccgagt
      901 acaacgccaa ggagctggtc gattacttcc taaatgtggc cactgcccag ggccggtatt
      961 accgcaccaa ccacactgtg atgaccatgg gctcggactt ccaatatgag aatgccaaca
     1021 tgtggttcaa gaaccttgac aagctcatcc ggctggtaaa tgcgcagcag gcaaaaggaa
     1081 gcagtgtcca tgttctctac tccacccccg cttgttacct ctgggagctg aacaaggcca
     1141 acctcacctg gtcagtgaaa catgacgact tcttccctta cgcggatggc ccccaccagt
     1201 tctggaccgg ttacttttcc agtcggccgg ccctcaaacg ctacgagcgc ctcagctaca
     1261 acttcctgca ggtgtgcaac cagctggagg cgctggtggg cctggcggcc aacgtgggac
     1321 cctatggctc cggagacagt gcacccctca atgaggcgat ggctgtgctc cagcatcacg
     1381 acgccgtcag cggcacctcc cgccagcacg tggccaacga ctacgcgcgc cagcttgcgg
     1441 caggctgggg gccttgcgag gttcttctga gcaacgcgct ggcgcggctc agaggcttca
     1501 aagatcactt caccttttgc caacagctaa acatcagcat ctgcccgctc agccagacgg
     1561 cggcgcgctt ccaggtcatc gtttataatc ccctggggcg gaaggtgaat tggatggtac
     1621 ggctgccggt cagcgaaggc gttttcgttg tgaaggaccc caatggcagg acagtgccca
     1681 gcgatgtggt aatatttccc agctcagaca gccaggcgca ccctccggag ctgctgttct
     1741 cagcctcact gcccgccctg ggcttcagca cctattcagt agcccaggtg cctcgctgga
     1801 agccccaggc ccgcgcacca cagcccatcc ccagaagatc ctggtcccct gctttaacca
     1861 tcgaaaatga gcacatccgg gcaacgtttg atcctgacac agggctgttg atggagatta
     1921 tgaacatgaa tcagcaactc ctgctgcctg ttcgccagac cttcttctgg tacaacgcca
     1981 gtataggtga caacgaaagt gaccaggcct caggtgccta catcttcaga cccaaccaac
     2041 agaaaccgct gcctgtgagc cgctgggctc agatccacct ggtgaagaca cccttggtgc
     2101 aggaggtgca ccagaacttc tcagcttggt gttcccaggt ggttcgcctg tacccaggac
     2161 agcggcacct ggagctagag tggtcggtgg ggccgatacc tgtgggcgac acctggggga
     2221 aggaggtcat cagccgtttt gacacaccgc tggagacaaa gggacgcttc tacacagaca
     2281 gcaatggccg ggagatcctg gagaggaggc gggattatcg acccacctgg aaactgaacc
     2341 agacggagcc cgtggcagga aactactatc cagtcaacac ccggatttac atcacggatg
     2401 gaaacatgca gctgactgtg ctgactgacc gctcccaggg gggcagcagc ctgagagatg
     2461 gctcgctgga gctcatggtg caccgaaggc tgctgaagga cgatggacgc ggagtatcgg
     2521 agccactaat ggagaacggg tcgggggcgt gggtgcgagg gcgccacctg gtgctgctgg
     2581 acacagccca ggctgcagcc gccggacacc ggctcctggc ggagcaggag gtcctggccc
     2641 ctcaggtggt gctggccccg ggtggcggcg ccgcctacaa tctcggggct cctccgcgca
     2701 cgcagttctc agggctgcgc agggacctgc cgccctcggt gcacctgctc acgctggcca
     2761 gctggggccc cgaaatggtg ctgctgcgct tggagcacca gtttgccgta ggagaggatt
     2821 ccggacgtaa cctgagcgcc cccgttacct tgaacttgag ggacctgttc tccaccttca
     2881 ccatcacccg cctgcaggag accacgctgg tggccaacca gctccgcgag gcagcctcca
     2941 ggctcaagtg gacaacaaac acaggcccca caccccacca aactccgtac cagctggacc
     3001 cggccaacat cacgctggaa cccatggaaa tccgcacttt cctggcctca gttcaatgga
     3061 aggaggtgga tggttaggtc tgctgggatg ggccctccaa gcccaagcct cctgctccgg
     3121 gggcagacca gactctgact ctcctcttgg ggctgctgcc attaaaacgc tactactaag
     3181 actca
//
LOCUS       NM_000529               3652 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens melanocortin 2 receptor (MC2R), mRNA.
ACCESSION   NM_000529
VERSION     NM_000529.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3652)
  AUTHORS   Liu S, Zeng T, Luo C, Peng D, Xu X, Liu Q, Wu Q, Lu Q and Huang F.
  TITLE     A rare homozygous variant of MC2R gene identified in a Chinese
            family with familial glucocorticoid deficiency type 1: A case report
  JOURNAL   Front Endocrinol (Lausanne) 14, 1113234 (2023)
   PUBMED   36909322
  REMARK    GeneRIF: A rare homozygous variant of MC2R gene identified in a
            Chinese family with familial glucocorticoid deficiency type 1: A
            case report. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3652)
  AUTHORS   Luo P, Feng W, Ma S, Dai A, Wu K, Chen X, Yuan Q, Cai X, Yang D,
            Wang MW, Eric Xu H and Jiang Y.
  TITLE     Structural basis of signaling regulation of the human melanocortin-2
            receptor by MRAP1
  JOURNAL   Cell Res 33 (1), 46-54 (2023)
   PUBMED   36588120
  REMARK    GeneRIF: Structural basis of signaling regulation of the human
            melanocortin-2 receptor by MRAP1.
REFERENCE   3  (bases 1 to 3652)
  AUTHORS   Davis PV, Shaughnessy CA and Dores RM.
  TITLE     Human Melanocortin-2 Receptor: Identifying a Role for Residues in
            the TM4, EC2, and TM5 Domains in Activation and Trafficking as a
            Result of Co-Expression with the Accessory Protein, Mrap1 in Chinese
            Hamster Ovary Cells
  JOURNAL   Biomolecules 12 (10), 1422 (2022)
   PUBMED   36291631
  REMARK    GeneRIF: Human Melanocortin-2 Receptor: Identifying a Role for
            Residues in the TM4, EC2, and TM5 Domains in Activation and
            Trafficking as a Result of Co-Expression with the Accessory Protein,
            Mrap1 in Chinese Hamster Ovary Cells. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3652)
  AUTHORS   Tang L, Xiang Q, Xiang J, Li J and Chen D.
  TITLE     A variant in the 3'-untranslated region of the MC2R gene decreases
            the risk of schizophrenia in a female Han Chinese population
  JOURNAL   J Int Med Res 49 (7), 3000605211029504 (2021)
   PUBMED   34266338
  REMARK    GeneRIF: A variant in the 3'-untranslated region of the MC2R gene
            decreases the risk of schizophrenia in a female Han Chinese
            population.
REFERENCE   5  (bases 1 to 3652)
  AUTHORS   Yuan F, Hou B, Ji L, Ren D, Liu L, Bi Y, Guo Z, Ma G, Yang F, Dong
            Z, Sun X, He L, Yu T, Wu X, Li X, Shi Y and He G.
  TITLE     Sex-specific association of MC2R polymorphisms and the risk of major
            depressive disorder in Chinese Southern Han
  JOURNAL   Psychiatr Genet 31 (1), 36-37 (2021)
   PUBMED   33395217
  REMARK    GeneRIF: Sex-specific association of MC2R polymorphisms and the risk
            of major depressive disorder in Chinese Southern Han.
REFERENCE   6  (bases 1 to 3652)
  AUTHORS   Calvo SE, Pagliarini DJ and Mootha VK.
  TITLE     Upstream open reading frames cause widespread reduction of protein
            expression and are polymorphic among humans
  JOURNAL   Proc Natl Acad Sci U S A 106 (18), 7507-7512 (2009)
   PUBMED   19372376
  REMARK    GeneRIF: Includes the study of a polymorphic upstream ORF in this
            gene, and shows that it functions to reduce protein levels by ~37%.
REFERENCE   7  (bases 1 to 3652)
  AUTHORS   Tsigos C, Arai K, Hung W and Chrousos GP.
  TITLE     Hereditary isolated glucocorticoid deficiency is associated with
            abnormalities of the adrenocorticotropin receptor gene
  JOURNAL   J Clin Invest 92 (5), 2458-2461 (1993)
   PUBMED   8227361
REFERENCE   8  (bases 1 to 3652)
  AUTHORS   Gantz I, Tashiro T, Barcroft C, Konda Y, Shimoto Y, Miwa H, Glover
            T, Munzert G and Yamada T.
  TITLE     Localization of the genes encoding the melanocortin-2
            (adrenocorticotropic hormone) and melanocortin-3 receptors to
            chromosomes 18p11.2 and 20q13.2-q13.3 by fluorescence in situ
            hybridization
  JOURNAL   Genomics 18 (1), 166-167 (1993)
   PUBMED   8276410
REFERENCE   9  (bases 1 to 3652)
  AUTHORS   Clark AJ, McLoughlin L and Grossman A.
  TITLE     Familial glucocorticoid deficiency associated with point mutation in
            the adrenocorticotropin receptor
  JOURNAL   Lancet 341 (8843), 461-462 (1993)
   PUBMED   8094489
REFERENCE   10  (bases 1 to 3652)
  AUTHORS   Mountjoy KG, Robbins LS, Mortrud MT and Cone RD.
  TITLE     The cloning of a family of genes that encode the melanocortin
            receptors
  JOURNAL   Science 257 (5074), 1248-1251 (1992)
   PUBMED   1325670
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC094710.1, AK289381.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145544,
            SAMEA2146411 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000327606.4/ ENSP00000333821.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC094710.1 and AP001086.7.
            This sequence is a reference standard in the RefSeqGene project.
            On May 19, 2005 this sequence version replaced NM_000529.1.
            Summary: MC2R encodes one member of the five-member G-protein
            associated melanocortin receptor family. Melanocortins
            (melanocyte-stimulating hormones and adrenocorticotropic hormone)
            are peptides derived from pro-opiomelanocortin (POMC). MC2R is
            selectively activated by adrenocorticotropic hormone, whereas the
            other four melanocortin receptors recognize a variety of
            melanocortin ligands. Mutations in MC2R can result in familial
            glucocorticoid deficiency. Alternate transcript variants have been
            found for this gene. [provided by RefSeq, May 2014].
            Transcript Variant: This variant (1) and variant 2 encode the same
            protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3652
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.21"
     gene            1..3652
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
                     /note="melanocortin 2 receptor"
                     /db_xref="GeneID:4158"
                     /db_xref="HGNC:HGNC:6930"
                     /db_xref="MIM:607397"
     misc_feature    160..162
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
                     /note="upstream in-frame stop codon"
     CDS             178..1071
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
                     /note="corticotropin receptor; MC2 receptor; ACTH receptor;
                     adrenocorticotropin receptor; melanocortin 2 receptor
                     (adrenocorticotropic hormone)"
                     /codon_start=1
                     /product="adrenocorticotropic hormone receptor"
                     /protein_id="NP_000520.1"
                     /db_xref="CCDS:CCDS11869.1"
                     /db_xref="GeneID:4158"
                     /db_xref="HGNC:HGNC:6930"
                     /db_xref="MIM:607397"
                     /translation="MKHIINSYENINNTARNNSDCPRVVLPEEIFFTISIVGVLENLIV
                     LLAVFKNKNLQAPMYFFICSLAISDMLGSLYKILENILIILRNMGYLKPRGSFETTADD
                     IIDSLFVLSLLGSIFSLSVIAADRYITIFHALRYHSIVTMRRTVVVLTVIWTFCTGTGI
                     TMVIFSHHVPTVITFTSLFPLMLVFILCLYVHMFLLARSHTRKISTLPRANMKGAITLT
                     ILLGVFIFCWAPFVLHVLLMTFCPSNPYCACYMSLFQVNGMLIMCNAVIDPFIYAFRSP
                     ELRDAFKKMIFCSRYW"
     misc_feature    211..213
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q01718.1); glycosylation site"
     misc_feature    226..228
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q01718.1); glycosylation site"
     misc_feature    247..324
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01718.1);
                     transmembrane region"
     misc_feature    352..414
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01718.1);
                     transmembrane region"
     misc_feature    490..555
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01718.1);
                     transmembrane region"
     misc_feature    619..681
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01718.1);
                     transmembrane region"
     misc_feature    718..774
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01718.1);
                     transmembrane region"
     misc_feature    829..909
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01718.1);
                     transmembrane region"
     misc_feature    946..1011
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01718.1);
                     transmembrane region"
     regulatory      2958..2963
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
     polyA_site      2975
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
     regulatory      3634..3639
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
     polyA_site      3652
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
ORIGIN
        1 attccttctc attcattttg cccagaaagt tcctgcttca gagctgaagg tgattgggag
       61 attttaactt agatctccag caagtgctac aaggaagaaa agatcctgaa gaatcaatca
      121 agttttccgt gaagtcaagt ccaagtaaca tccccgcctt aaccacaagc aggagaaatg
      181 aagcacatta tcaactcgta tgaaaacatc aacaacacag caagaaataa ttccgactgt
      241 cctcgtgtgg ttttgccgga ggagatattt ttcacaattt ccattgttgg agttttggag
      301 aatctgatcg tcctgctggc tgtgttcaag aataagaatc tccaggcacc catgtacttt
      361 ttcatctgta gcttggccat atctgatatg ctgggcagcc tatataagat cttggaaaat
      421 atcctgatca tattgagaaa catgggctat ctcaagccac gtggcagttt tgaaaccaca
      481 gccgatgaca tcatcgactc cctgtttgtc ctctccctgc ttggctccat cttcagcctg
      541 tctgtgattg ctgcggaccg ctacatcacc atcttccacg cactgcggta ccacagcatc
      601 gtgaccatgc gccgcactgt ggtggtgctt acggtcatct ggacgttctg cacggggact
      661 ggcatcacca tggtgatctt ctcccatcat gtgcccacag tgatcacctt cacgtcgctg
      721 ttcccgctga tgctggtctt catcctgtgc ctctatgtgc acatgttcct gctggctcga
      781 tcccacacca ggaagatctc caccctcccc agagccaaca tgaaaggggc catcacactg
      841 accatcctgc tcggggtctt catcttctgc tgggccccct ttgtgcttca tgtcctcttg
      901 atgacattct gcccaagtaa cccctactgc gcctgctaca tgtctctctt ccaggtgaac
      961 ggcatgttga tcatgtgcaa tgccgtcatt gaccccttca tatatgcctt ccggagccca
     1021 gagctcaggg acgcattcaa aaagatgatc ttctgcagca ggtactggta gaatggctga
     1081 tccctggttt tagaatccat gggaataacg ttgccaagtg ccagaatagt gtaacattcc
     1141 aacaaatgcc agtgctcctc actggccttc cttccctaat ggatgcaagg atgatcccac
     1201 cagctagtgt ttctaatagc taggttctat gtgaacagtc ttattgtagg ggcaacctct
     1261 taactttgtg actggacaga taaaacgatg tagtaaaaga aggatagaat acaaagtatt
     1321 aggtaggtac aaaagtaatt aaggtttttg ccattacttt caatgaccaa aaattgcaat
     1381 tacttttgca ccaatctagt aaaacagcaa taaaaattca agggctttgg gctaaggcaa
     1441 agacttgctt tcctgtggac atctaacaag ccagttctga ggtggccttt ccaggtggag
     1501 gccattgcag ccaatttcca gaagttaagt acctggacat gcgactccag gcagaagatg
     1561 tagggtctct gtaagccaat aataaattgg aaggaatgca ttgctgcagc tgaatttgtc
     1621 tgtctcccac agccatgtgg aatctccacc ctcctctttc tccctgttag tctgatgtat
     1681 tgatgccacc tcagtttcag aaagtaggct gagtataaac tataaatgtc aaataacgag
     1741 cttcgagttt ccaatgataa atggaccttc tctgttagtc ttctttgctc actcagtatc
     1801 ccactggcct taaaaccctt tcctgttaca tttcctcatg ctttatgagc atacatttca
     1861 aaggaagaaa tgaaaattta atccatttag ttcccatgtg ggaatacata aaggccagat
     1921 gaaaattgtc actatttgaa gaagctgtaa ccaaactatg tgtgttacaa tgtagaagta
     1981 caagaaaaga gccccaacat gtattttaag aaataaagag agagagacag agacagacag
     2041 agagagagag agagagagag agagagagtg tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg
     2101 tgtgtgtgtg tgtgtgtgta ttttccccat gcttttggac tatggggaaa accaaaacca
     2161 aagcaagaca tcaagcaatg gtgctgttat tatagcccca agtcaaagac ctgagggagg
     2221 caaacaccac ctcattctgc agatgaatgt gaaagcagac ccagtcactg ggaaatgtca
     2281 tcctcccatc agccaagatg ccagcaatgg aagagtggca accccagtag gaataaaaga
     2341 aacataattt gcaagttcat tcatttttaa tagctaaaaa tcagcttaaa ggagaagcac
     2401 atcctgattg taagtcccca ctaagttgga gggtgacttg aatggggtga aaggtgaaag
     2461 ggacagagga gagcagtggg gcttcagagg ccaccaggct caggatctgc aggatggatg
     2521 gtatcttcca gaacaggcaa tgctttgccc tcaggagaat ttcccagagc tgctgagggg
     2581 agaagacagc cacacacagg acagaccatt tggtgatggg tttgatatta gaagtggcag
     2641 ggacaggaac ttcagaagca aaggaggcaa ggcagctgga gtcaagtgag gacagtggca
     2701 ggcgtgcttt cacatggcct gtcccacaga tggaggtgaa aggtgcacct tcttgtcctc
     2761 tgttctgtag aaatccttcc ctgtttgatc cttcccctgc caaatgaact atgttactct
     2821 aatactaacc tgtattaatt aatatatgag atatatataa gttaattttt catgaaatct
     2881 aaagcacaac cctagaacta atttttaaaa gtgttatttc taccattgaa aaagtaatgt
     2941 ataacatatt ttatgtgatt aaagtgcgta ttctcaataa gaggtaacct ttttttgatg
     3001 ctgcaatgct ctgtgatacc acagaggtaa gcaatgccac ttaacctgta tcataaatag
     3061 tcccaaactg ctcttcctat aaaattctgc ctttgtcaac agctttgctg tctcctaatc
     3121 actctcaagc tctctgctgt gcatgtgact gttgtcagaa ggaaaatcac caagaaactt
     3181 cacctctcac tgcctttgat ttgttgcagt taatctaaga aacaaaatga agatggctag
     3241 tctaatggtg gatgaaacaa aaatgaagtc tgagtgctaa ttcagagaac ttgcaattcc
     3301 agacattttc aattctaggt cttctgctat attccaatca gaacagaagc ttcagggctc
     3361 atagttactg agaaaactca cgtttttcta cctctaactt catatagaat tccaaatgaa
     3421 agcaccacca aactgcacat atttgtgtga ggaagatcaa caagcttcag acttttccca
     3481 tgaggactta attcttttat caaattaccc aatttttaaa ctgctgtgtg gatactgtga
     3541 gtgttcagct ttatcgatga cctagccttg gaccagatag ctgaaaatgt tcaggatgtg
     3601 tactcaagct gatagtaatt ctgagccctg tctaataaaa aaggaaggat gt
//
LOCUS       NM_000530               1951 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens myelin protein zero (MPZ), transcript variant 1, mRNA.
ACCESSION   NM_000530
VERSION     NM_000530.8
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1951)
  AUTHORS   Yamaguchi Y and Baba H.
  TITLE     Phylogenetically Conserved Sequences Around Myelin P0 Stop Codon are
            Essential for Translational Readthrough to Produce L-MPZ
  JOURNAL   Neurochem Res 43 (1), 227-237 (2018)
   PUBMED   29081003
REFERENCE   2  (bases 1 to 1951)
  AUTHORS   Yamaguchi Y, Hayashi A, Campagnoni CW, Kimura A, Inuzuka T and Baba
            H.
  TITLE     L-MPZ, a novel isoform of myelin P0, is produced by stop codon
            readthrough
  JOURNAL   J Biol Chem 287 (21), 17765-17776 (2012)
   PUBMED   22457349
  REMARK    GeneRIF: L-MPZ, a novel isoform of myelin P0, is produced by stop
            codon readthrough.
REFERENCE   3  (bases 1 to 1951)
  AUTHORS   Luo X, Sharma D, Inouye H, Lee D, Avila RL, Salmona M and Kirschner
            DA.
  TITLE     Cytoplasmic domain of human myelin protein zero likely folded as
            beta-structure in compact myelin
  JOURNAL   Biophys J 92 (5), 1585-1597 (2007)
   PUBMED   17142269
  REMARK    GeneRIF: the cytoplasmic apposition (major dense line) in compact
            myelin may be stabilized via the hydrogen-bonding of beta-strands
            formed as a result of local P0-P0 aggregation.
REFERENCE   4  (bases 1 to 1951)
  AUTHORS   Shy ME.
  TITLE     Peripheral neuropathies caused by mutations in the myelin protein
            zero
  JOURNAL   J Neurol Sci 242 (1-2), 55-66 (2006)
   PUBMED   16414078
  REMARK    GeneRIF: Peripheral neuropathies caused by mutations in the myelin
            protein zero. Review article
REFERENCE   5  (bases 1 to 1951)
  AUTHORS   Beier H and Grimm M.
  TITLE     Misreading of termination codons in eukaryotes by natural nonsense
            suppressor tRNAs
  JOURNAL   Nucleic Acids Res 29 (23), 4767-4782 (2001)
   PUBMED   11726686
  REMARK    Review article
REFERENCE   6  (bases 1 to 1951)
  AUTHORS   Pham-Dinh D, Fourbil Y, Blanquet F, Mattei MG, Roeckel N, Latour P,
            Chazot G, Vandenberghe A and Dautigny A.
  TITLE     The major peripheral myelin protein zero gene: structure and
            localization in the cluster of Fc gamma receptor genes on human
            chromosome 1q21.3-q23
  JOURNAL   Hum Mol Genet 2 (12), 2051-2054 (1993)
   PUBMED   7509228
REFERENCE   7  (bases 1 to 1951)
  AUTHORS   Hayasaka K, Himoro M, Wang Y, Takata M, Minoshima S, Shimizu N,
            Miura M, Uyemura K and Takada G.
  TITLE     Structure and chromosomal localization of the gene encoding the
            human myelin protein zero (MPZ)
  JOURNAL   Genomics 17 (3), 755-758 (1993)
   PUBMED   7503936
REFERENCE   8  (bases 1 to 1951)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301532
REFERENCE   9  (bases 1 to 1951)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301462
REFERENCE   10  (bases 1 to 1951)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 1 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301384
REFERENCE   11  (bases 1 to 1951)
  AUTHORS   Hayasaka K, Nanao K, Tahara M, Sato W, Takada G, Miura M and Uyemura
            K.
  TITLE     Isolation and sequence determination of cDNA encoding the major
            structural protein of human peripheral myelin
  JOURNAL   Biochem Biophys Res Commun 180 (2), 515-518 (1991)
   PUBMED   1719967
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK313555.1, D10537.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: community standard
            (PMID:16414078)
            MANE Ensembl match :: ENST00000533357.5/ ENSP00000432943.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB210759.1, D10537.1,
            CD172418.1 and BM663255.1.
            On Nov 22, 2018 this sequence version replaced NM_000530.7.
            Summary: This gene is specifically expressed in Schwann cells of
            the peripheral nervous system and encodes a type I transmembrane
            glycoprotein that is a major structural protein of the peripheral
            myelin sheath. The encoded protein contains a large hydrophobic
            extracellular domain and a smaller basic intracellular domain,
            which are essential for the formation and stabilization of the
            multilamellar structure of the compact myelin. Mutations in this
            gene are associated with autosomal dominant form of
            Charcot-Marie-Tooth disease type 1 (CMT1B) and other
            polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and
            congenital hypomyelinating neuropathy (CHN). A recent study showed
            that two isoforms are produced from the same mRNA by use of
            alternative in-frame translation termination codons via a stop
            codon readthrough mechanism. [provided by RefSeq, Oct 2015].
            Transcript Variant: This transcript (1) encodes two isoforms, which
            result from the use of alternative in-frame translation termination
            codons. The shorter isoform (MPZ, also known as P0) results from
            translation termination at the upstream UAG stop codon, while the
            longer isoform (L-MPZ) results from UAG stop codon readthrough to
            the downstream UGA termination codon. This RefSeq represents the
            shorter isoform (MPZ).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1951
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..1951
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E;
                     CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="myelin protein zero"
                     /db_xref="GeneID:4359"
                     /db_xref="HGNC:HGNC:7225"
                     /db_xref="MIM:159440"
     misc_feature    34..36
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E;
                     CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MLRAPAPAPA"
     CDS             64..810
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E;
                     CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="isoform MPZ precursor is encoded by transcript
                     variant 1; Charcot-Marie-Tooth neuropathy 1B; myelin
                     protein P0; myelin peripheral protein"
                     /codon_start=1
                     /product="myelin protein P0 isoform MPZ precursor"
                     /protein_id="NP_000521.2"
                     /db_xref="CCDS:CCDS1229.2"
                     /db_xref="GeneID:4359"
                     /db_xref="HGNC:HGNC:7225"
                     /db_xref="MIM:159440"
                     /translation="MAPGAPSSSPSPILAVLLFSSLVLSPAQAIVVYTDREVHGAVGSR
                     VTLHCSFWSSEWVSDDISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQWVGD
                     PRWKDGSIVIHNLDYSDNGTFTCDVKNPPDIVGKTSQVTLYVFEKVPTRYGVVLGAVIG
                     GVLGVVLLLLLLFYVVRYCWLRRQAALQRRLSAMEKGKLHKPGKDASKRGRQTPVLYAM
                     LDHSRSTKAVSEKKAKGLGESRKDKK"
     sig_peptide     64..150
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E;
                     CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     151..807
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E;
                     CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /product="Myelin protein P0. /id=PRO_0000019300"
                     /note="propagated from UniProtKB/Swiss-Prot (P25189.1)"
     misc_feature    427..429
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E;
                     CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P25189.1); glycosylation site"
     misc_feature    523..600
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E;
                     CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="propagated from UniProtKB/Swiss-Prot (P25189.1);
                     transmembrane region"
     misc_feature    691..693
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E;
                     CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000250|UniProtKB:P10522; propagated from
                     UniProtKB/Swiss-Prot (P25189.1); phosphorylation site"
     misc_feature    733..807
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E;
                     CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="propagated from UniProtKB/Swiss-Prot (P25189.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    739..741
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E;
                     CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P27573; propagated from
                     UniProtKB/Swiss-Prot (P25189.1); phosphorylation site"
     misc_feature    745..747
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E;
                     CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P27573; propagated from
                     UniProtKB/Swiss-Prot (P25189.1); phosphorylation site"
     misc_feature    760..762
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E;
                     CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000250|UniProtKB:P10522; propagated from
                     UniProtKB/Swiss-Prot (P25189.1); phosphorylation site"
     misc_feature    790..792
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E;
                     CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000250|UniProtKB:P10522; propagated from
                     UniProtKB/Swiss-Prot (P25189.1); phosphorylation site"
     misc_feature    1000..1002
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E;
                     CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="alternative translation termination codon, use of
                     which results in the longer, C-terminally extended isoform
                     (L-MPZ)"
     regulatory      1929..1934
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E;
                     CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="hexamer: AATAAA"
     polyA_site      1951
                     /gene="MPZ"
                     /gene_synonym="CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E;
                     CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0"
                     /note="major polyA site"
ORIGIN
        1 agttcctggt cccccacttt ctcaacccca cagatgctcc gggcccctgc ccctgcccca
       61 gctatggctc ctggggctcc ctcatccagc cccagcccta tcctggctgt gctgctcttc
      121 tcttctttgg tgctgtcccc ggcccaggcc atcgtggttt acaccgacag ggaggtccat
      181 ggtgctgtgg gctcccgggt gaccctgcac tgctccttct ggtccagtga gtgggtctca
      241 gatgacatct ccttcacctg gcgctaccag cccgaagggg gcagagatgc catttcgatc
      301 ttccactatg ccaagggaca accctacatt gacgaggtgg ggaccttcaa agagcgcatc
      361 cagtgggtag gggaccctcg ctggaaggat ggctccattg tcatacacaa cctagactac
      421 agtgacaatg gcacgttcac ttgtgacgtc aaaaaccctc cagacatagt gggcaagacc
      481 tctcaggtca cgctgtatgt ctttgaaaaa gtgccaacta ggtacggggt cgttctggga
      541 gctgtgatcg ggggtgtcct cggggtggtg ctgttgctgc tgctgctttt ctacgtggtt
      601 cggtactgct ggctacgcag gcaggcggcc ctgcagagga ggctcagtgc tatggagaag
      661 gggaaattgc acaagccagg aaaggacgcg tcgaagcgcg ggcggcagac gccagtgctg
      721 tatgcaatgc tggaccacag cagaagcacc aaagctgtca gtgagaagaa ggccaagggg
      781 ctgggggagt ctcgcaagga taagaaatag cggttagcgg gccgggcggg ggatcggggg
      841 ttaggggtgg agtccgccaa aggcccaaag gtgatggtca tcgagatgga gctacgaaag
      901 gatgagcaga gcccggagct ccggcctgct gtcaagtccc ccagcagaac cagcctcaaa
      961 aacgccctca agaacatgat gggcctgaac tcggacaagt gatcgccacc cccccacccc
     1021 aggccctgcc agagcagggg gacctaggct cctcttaccc ccgtctaggt gctttccctc
     1081 tttgctcccc cgccctgccc tgccctcacc tccctttgag atgtaagttt cattccagaa
     1141 ttcattcccc aggcaattgt attctccccc accttcaccc ctggctttct gggagcccag
     1201 gagctaatcc tacccctcac ctgccccggg ggctgtgtgt ttggtgcctg tccacctgag
     1261 cactgagaag aaagggactt tgataccctc tgcctcaagt ccaggccacc tggcattccc
     1321 atctcctgca tcccccagcc tgtccccctg gctgtttcct ctcccgtccc tccctcccct
     1381 ctaccaggtg gcccagctcc atactctgtc cccccagcta atacccagag cacccagatc
     1441 agactctcct tcagggttta tttaggttat tattttttat tttttaatcc attctttgtt
     1501 tgtttacctg tgctcatcct ctgcccttac acccatgact gaggaccaat gacgtcatgt
     1561 ggcttttgca attcacgccc cccttaagtc cttaatgaag agccagccca agtagagggg
     1621 cccctgatcc tcacacttca gtatagcatt ggttccccct gaccactttg gagcactgtt
     1681 ctgggactcc aggtcttgag gagagagaca gagagagaga atggatcctc ataggtcagg
     1741 gagtggggga gggggcaaat gagccttaag aaatggtttt taaacaacca aacaaaaagc
     1801 aggaaaaaca aatgggaaat gggggggcgg gggggaggaa gaggctgcac tgcagccaca
     1861 ggggattctt aggatttttc tacattctgt atatttcttc tcaaacctcc aaatgtcctt
     1921 aaatgtttaa taaacactga catttccaga a
//
LOCUS       NM_000531               1522 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens ornithine transcarbamylase (OTC), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000531
VERSION     NM_000531.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1522)
  AUTHORS   Lo RS, Cromie GA, Tang M, Teng K, Owens K, Sirr A, Kutz JN, Morizono
            H, Caldovic L, Ah Mew N, Gropman A and Dudley AM.
  TITLE     The functional impact of 1,570 individual amino acid substitutions
            in human OTC
  JOURNAL   Am J Hum Genet 110 (5), 863-879 (2023)
   PUBMED   37146589
  REMARK    GeneRIF: The functional impact of 1,570 individual amino acid
            substitutions in human OTC.
REFERENCE   2  (bases 1 to 1522)
  AUTHORS   Xie L, Wang Y, Ma W, Fan X, Pang L, Wei E and Wang H.
  TITLE     [Analysis of OTC gene variants in four children with delayed onset
            Ornithine transcarbamylase deficiency]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (3), 328-331 (2023)
   PUBMED   36854409
  REMARK    GeneRIF: [Analysis of OTC gene variants in four children with
            delayed onset Ornithine transcarbamylase deficiency].
REFERENCE   3  (bases 1 to 1522)
  AUTHORS   Han ST, Anderson KJ, Bjornsson HT, Longo N and Valle D.
  TITLE     A promoter variant in the OTC gene associated with late and variable
            age of onset hyperammonemia
  JOURNAL   J Inherit Metab Dis 45 (4), 710-718 (2022)
   PUBMED   35605046
  REMARK    GeneRIF: A promoter variant in the OTC gene associated with late and
            variable age of onset hyperammonemia.
REFERENCE   4  (bases 1 to 1522)
  AUTHORS   Sacchetto C, Peretto L, Baralle F, Maestri I, Tassi F, Bernardi F,
            van de Graaf SFJ, Pagani F, Pinotti M and Balestra D.
  TITLE     OTC intron 4 variations mediate pathogenic splicing patterns caused
            by the c.386G>A mutation in humans and spfash mice, and govern
            susceptibility to RNA-based therapies
  JOURNAL   Mol Med 27 (1), 157 (2021)
   PUBMED   34906067
  REMARK    GeneRIF: OTC intron 4 variations mediate pathogenic splicing
            patterns caused by the c.386G>A mutation in humans and spf(ash)
            mice, and govern susceptibility to RNA-based therapies. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 1522)
  AUTHORS   Lichter-Konecki,U., Caldovic,L., Morizono,H., Simpson,K., Ah Mew,N.
            and MacLeod,E.
  TITLE     Ornithine Transcarbamylase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24006547
REFERENCE   6  (bases 1 to 1522)
  AUTHORS   Ah Mew,N., Simpson,K.L., Gropman,A.L., Lanpher,B.C., Chapman,K.A.
            and Summar,M.L.
  TITLE     Urea Cycle Disorders Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301396
REFERENCE   7  (bases 1 to 1522)
  AUTHORS   Tuchman M, Holzknecht RA, Gueron AB, Berry SA and Tsai MY.
  TITLE     Six new mutations in the ornithine transcarbamylase gene detected by
            single-strand conformational polymorphism
  JOURNAL   Pediatr Res 32 (5), 600-604 (1992)
   PUBMED   1480464
REFERENCE   8  (bases 1 to 1522)
  AUTHORS   Feldmann D, Rozet JM, Pelet A, Hentzen D, Briand P, Hubert P,
            Largilliere C, Rabier D, Farriaux JP and Munnich A.
  TITLE     Site specific screening for point mutations in ornithine
            transcarbamylase deficiency
  JOURNAL   J Med Genet 29 (7), 471-475 (1992)
   PUBMED   1353535
REFERENCE   9  (bases 1 to 1522)
  AUTHORS   Suess PJ, Tsai MY, Holzknecht RA, Horowitz M and Tuchman M.
  TITLE     Screening for gene deletions and known mutations in 13 patients with
            ornithine transcarbamylase deficiency
  JOURNAL   Biochem Med Metab Biol 47 (3), 250-259 (1992)
   PUBMED   1627356
REFERENCE   10  (bases 1 to 1522)
  AUTHORS   Dawson SJ and White LA.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.144333.1,
            SRR5189664.63751.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000039007.5/ ENSP00000039007.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292757.1 and AI247721.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000531.5.
            Summary: This nuclear gene encodes a mitochondrial matrix enzyme.
            The encoded protein is involved in the urea cycle which functions
            to detoxify ammonia into urea for excretion. Mutations in this
            enzyme lead to ornithine transcarbamylase deficiency, which causes
            hyperammonemia. [provided by RefSeq, May 2022].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1522
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.4"
     gene            1..1522
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="ornithine transcarbamylase"
                     /db_xref="GeneID:5009"
                     /db_xref="HGNC:HGNC:8512"
                     /db_xref="MIM:300461"
     misc_feature    85..87
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="upstream in-frame stop codon"
     CDS             94..1158
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /EC_number="2.1.3.3"
                     /note="ornithine carbamoyltransferase, mitochondrial;
                     ornithine transcarbamylase, mitochondrial"
                     /codon_start=1
                     /product="ornithine transcarbamylase, mitochondrial
                     precursor"
                     /protein_id="NP_000522.3"
                     /db_xref="CCDS:CCDS14247.1"
                     /db_xref="GeneID:5009"
                     /db_xref="HGNC:HGNC:8512"
                     /db_xref="MIM:300461"
                     /translation="MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTL
                     KNFTGEEIKYMLWLSADLKFRIKQKGEYLPLLQGKSLGMIFEKRSTRTRLSTETGFALL
                     GGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPIINGL
                     SDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKG
                     YEPDASVTKLAEQYAKENGTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAF
                     QGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPRSLVFPEAENRKWTIMAVMVS
                     LLTDYSPQLQKPKF"
     transit_peptide 94..189
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
     mat_peptide     190..1155
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /product="ornithine transcarbamylase, mitochondrial"
     misc_feature    301..303
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P11725; propagated from
                     UniProtKB/Swiss-Prot (P00480.3); acetylation site"
     misc_feature    355..357
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:19318352; propagated from
                     UniProtKB/Swiss-Prot (P00480.3); acetylation site"
     misc_feature    490..492
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P00480.3); phosphorylation site"
     misc_feature    523..525
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P11725; propagated from
                     UniProtKB/Swiss-Prot (P00480.3); acetylation site"
     misc_feature    754..756
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P11725; propagated from
                     UniProtKB/Swiss-Prot (P00480.3); acetylation site"
     misc_feature    784..786
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P11725; propagated from
                     UniProtKB/Swiss-Prot (P00480.3); acetylation site"
     misc_feature    805..807
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P11725; propagated from
                     UniProtKB/Swiss-Prot (P00480.3); acetylation site"
     misc_feature    820..822
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P11725; propagated from
                     UniProtKB/Swiss-Prot (P00480.3); acetylation site"
     misc_feature    967..969
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P11725; propagated from
                     UniProtKB/Swiss-Prot (P00480.3); acetylation site"
     misc_feature    1012..1014
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P11725; propagated from
                     UniProtKB/Swiss-Prot (P00480.3); acetylation site"
     regulatory      1244..1249
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="hexamer: AATAAA"
     regulatory      1248..1253
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="hexamer: AACAAA"
     polyA_site      1267
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="major polyA site"
     polyA_site      1282
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
     regulatory      1501..1506
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="hexamer: AATAAA"
     polyA_site      1522
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="major polyA site"
ORIGIN
        1 aacacatttc ttagttttta ggtggccccc gctggctaac ttgctgtgga gttttcaagg
       61 gcatagaatc gtcctttaca caattaaaag aagatgctgt ttaatctgag gatcctgtta
      121 aacaatgcag cttttagaaa tggtcacaac ttcatggttc gaaattttcg gtgtggacaa
      181 ccactacaaa ataaagtgca gctgaagggc cgtgaccttc tcactctaaa aaactttacc
      241 ggagaagaaa ttaaatatat gctatggcta tcagcagatc tgaaatttag gataaaacag
      301 aaaggagagt atttgccttt attgcaaggg aagtccttag gcatgatttt tgagaaaaga
      361 agtactcgaa caagattgtc tacagaaaca ggctttgcac ttctgggagg acatccttgt
      421 tttcttacca cacaagatat tcatttgggt gtgaatgaaa gtctcacgga cacggcccgt
      481 gtattgtcta gcatggcaga tgcagtattg gctcgagtgt ataaacaatc agatttggac
      541 accctggcta aagaagcatc catcccaatt atcaatgggc tgtcagattt gtaccatcct
      601 atccagatcc tggctgatta cctcacgctc caggaacact atagctctct gaaaggtctt
      661 accctcagct ggatcgggga tgggaacaat atcctgcact ccatcatgat gagcgcagcg
      721 aaattcggaa tgcaccttca ggcagctact ccaaagggtt atgagccgga tgctagtgta
      781 accaagttgg cagagcagta tgccaaagag aatggtacca agctgttgct gacaaatgat
      841 ccattggaag cagcgcatgg aggcaatgta ttaattacag acacttggat aagcatggga
      901 caagaagagg agaagaaaaa gcggctccag gctttccaag gttaccaggt tacaatgaag
      961 actgctaaag ttgctgcctc tgactggaca tttttacact gcttgcccag aaagccagaa
     1021 gaagtggatg atgaagtctt ttattctcct cgatcactag tgttcccaga ggcagaaaac
     1081 agaaagtgga caatcatggc tgtcatggtg tccctgctga cagattactc acctcagctc
     1141 cagaagccta aattttgatg ttgtgttact tgtcaagaaa gaagcaatgt tcttcagtaa
     1201 cagaatgagt tggtttatgg ggaaaagaga agagaatcta aaaaataaac aaatccctaa
     1261 cacgtggtat gggtgaaccg tatgatatgc tttgccattg tgaaactttc cttaagcctt
     1321 taatttaagt gctgatgcac tgtaatacgt gcttaacttt gcttaaactc tctaattccc
     1381 aatttctgag ttacatttag atatcatatt aattatcata tacatttact tcaacataaa
     1441 atactgtgtt cataatgtat aatgtctaag ccattaagtg taatctatgc ttattaccta
     1501 aataaattat cacccatgct aa
//
LOCUS       NM_000532               1799 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens propionyl-CoA carboxylase subunit beta (PCCB),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000532
VERSION     NM_000532.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1799)
  AUTHORS   Zhang W, Zhang M, Xu Z, Yan H, Wang H, Jiang J, Wan J, Tang B, Liu
            C, Chen C and Meng Q.
  TITLE     Human forebrain organoid-based multi-omics analyses of PCCB as a
            schizophrenia associated gene linked to GABAergic pathways
  JOURNAL   Nat Commun 14 (1), 5176 (2023)
   PUBMED   37620341
  REMARK    GeneRIF: Human forebrain organoid-based multi-omics analyses of PCCB
            as a schizophrenia associated gene linked to GABAergic pathways.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1799)
  AUTHORS   Yang X, Li D, Tu C, He W, Meng L, Tan YQ, Lu G, Du J and Zhang Q.
  TITLE     Novel variants of the PCCB gene in Chinese patients with propionic
            acidemia
  JOURNAL   Clin Chim Acta 519, 18-25 (2021)
   PUBMED   33798502
  REMARK    GeneRIF: Novel variants of the PCCB gene in Chinese patients with
            propionic acidemia.
REFERENCE   3  (bases 1 to 1799)
  AUTHORS   Bychkov I, Galushkin A, Filatova A, Nekrasov A, Kurkina M, Baydakova
            G, Ilyushkina A, Skoblov M and Zakharova E.
  TITLE     Functional Analysis of the PCCA and PCCB Gene Variants Predicted to
            Affect Splicing
  JOURNAL   Int J Mol Sci 22 (8), 4154 (2021)
   PUBMED   33923806
  REMARK    GeneRIF: Functional Analysis of the PCCA and PCCB Gene Variants
            Predicted to Affect Splicing. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1799)
  AUTHORS   Chen Y, Lin X, Lin Q, Zeng Y, Qiu X, Liu G and Zhu W.
  TITLE     Gene diagnosis and pedigree analysis of two Han ethnicity families
            with propionic acidemia in Fujian
  JOURNAL   Medicine (Baltimore) 100 (10), e24161 (2021)
   PUBMED   33725819
  REMARK    GeneRIF: Gene diagnosis and pedigree analysis of two Han ethnicity
            families with propionic acidemia in Fujian.
REFERENCE   5  (bases 1 to 1799)
  AUTHORS   Wenger O, Brown M, Smith B, Chowdhury D, Crosby AH, Baple EL, Yoder
            M, Laxen W, Tortorelli S and Strauss KA.
  TITLE     Biochemical phenotype and its relationship to treatment in 16
            individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic
            acidemia
  JOURNAL   Mol Genet Metab 131 (3), 316-324 (2020)
   PUBMED   33127324
  REMARK    GeneRIF: Biochemical phenotype and its relationship to treatment in
            16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic
            acidemia.
REFERENCE   6  (bases 1 to 1799)
  AUTHORS   Shchelochkov,O.A., Carrillo,N. and Venditti,C.
  TITLE     Propionic Acidemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   22593918
REFERENCE   7  (bases 1 to 1799)
  AUTHORS   Tahara T, Kraus JP and Rosenberg LE.
  TITLE     An unusual insertion/deletion in the gene encoding the beta-subunit
            of propionyl-CoA carboxylase is a frequent mutation in Caucasian
            propionic acidemia
  JOURNAL   Proc Natl Acad Sci U S A 87 (4), 1372-1376 (1990)
   PUBMED   2154743
REFERENCE   8  (bases 1 to 1799)
  AUTHORS   Baumgartner ER, Suormala TM, Wick H, Probst A, Blauenstein U,
            Bachmann C and Vest M.
  TITLE     Biotinidase deficiency: a cause of subacute necrotizing
            encephalomyelopathy (Leigh syndrome). Report of a case with lethal
            outcome
  JOURNAL   Pediatr Res 26 (3), 260-266 (1989)
   PUBMED   2587127
REFERENCE   9  (bases 1 to 1799)
  AUTHORS   Waye JS, Gravel RA and Willard HF.
  TITLE     Two PstI RFLPs in the PCCB gene on the long arm of chromosome 3
  JOURNAL   Nucleic Acids Res 16 (5), 2362 (1988)
   PUBMED   2895916
REFERENCE   10  (bases 1 to 1799)
  AUTHORS   Baumgartner,E.R., Bachmann,C., Brechbuhler,T. and Wick,H.
  TITLE     Acute neonatal nonketotic hyperglycinemia: normal propionate and
            methylmalonate metabolism
  JOURNAL   Pediatr Res 9 (7), 559-564 (1975)
   PUBMED   240144
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.161574.1,
            SRR3476690.610353.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000251654.9/ ENSP00000251654.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA090969.1 and BC013768.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000532.4.
            Summary: The protein encoded by this gene is a subunit of the
            propionyl-CoA carboxylase (PCC) enzyme, which is involved in the
            catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that
            probably acts as a dodecamer of six alpha subunits and six beta
            subunits. This gene encodes the beta subunit of PCC. Defects in
            this gene are a cause of propionic acidemia type II (PA-2).
            Multiple transcript variants encoding different isoforms have been
            found for this gene.[provided by RefSeq, May 2010].
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the shorter isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1799
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.3"
     gene            1..1799
                     /gene="PCCB"
                     /note="propionyl-CoA carboxylase subunit beta"
                     /db_xref="GeneID:5096"
                     /db_xref="HGNC:HGNC:8654"
                     /db_xref="MIM:232050"
     CDS             37..1656
                     /gene="PCCB"
                     /EC_number="6.4.1.3"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; propionyl Coenzyme A carboxylase, beta polypeptide;
                     propionyl-CoA carboxylase beta chain, mitochondrial; PCCase
                     subunit beta; propanoyl-CoA:carbon dioxide ligase subunit
                     beta; propionyl CoA carboxylase, beta polypeptide;
                     propionyl-CoA carboxylase beta subunit"
                     /codon_start=1
                     /product="propionyl-CoA carboxylase beta chain,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_000523.2"
                     /db_xref="CCDS:CCDS3089.1"
                     /db_xref="GeneID:5096"
                     /db_xref="HGNC:HGNC:8654"
                     /db_xref="MIM:232050"
                     /translation="MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRT
                     ALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKFPG
                     DSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGG
                     ARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSY
                     LFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLS
                     SQDPAPVRECHDPSDRLVPELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMPNYAKNI
                     IVGFARMNGRTVGIVGNQPKVASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLP
                     GTAQEYGGIIRHGAKLLYAFAEATVPKVTVITRKAYGGAYDVMSSKHLCGDTNYAWPTA
                     EIAVMGAKGAVEIIFKGHENVEAAQAEYIEKFANPFPAAVRGFVDDIIQPSSTRARICC
                     DLDVLASKKVQRPWRKHANIPL"
     misc_feature    130..1635
                     /gene="PCCB"
                     /note="propagated from UniProtKB/Swiss-Prot (P05166.3);
                     Region: Carboxyltransferase.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01138"
     misc_feature    247..249
                     /gene="PCCB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P05166.3); phosphorylation site"
     misc_feature    331..333
                     /gene="PCCB"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q99MN9; propagated from
                     UniProtKB/Swiss-Prot (P05166.3); acetylation site"
     misc_feature    1009..1110
                     /gene="PCCB"
                     /note="propagated from UniProtKB/Swiss-Prot (P05166.3);
                     Region: Acyl-CoA binding. /evidence=ECO:0000255"
     misc_feature    1456..1458
                     /gene="PCCB"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q99MN9; propagated from
                     UniProtKB/Swiss-Prot (P05166.3); acetylation site"
     misc_feature    1501..1503
                     /gene="PCCB"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q99MN9; propagated from
                     UniProtKB/Swiss-Prot (P05166.3); acetylation site"
     regulatory      1781..1786
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCCB"
                     /note="hexamer: ATTAAA"
     polyA_site      1799
                     /gene="PCCB"
                     /note="major polyA site"
ORIGIN
        1 aggtgcgccg gtaggggacg cgccggcaca gcaaaaatgg cggcggcatt acgggtggcg
       61 gcggtcgggg caaggctcag cgttctggcg agcggtctcc gcgccgcggt ccgcagcctt
      121 tgcagccagg ccacctctgt taacgaacgc atcgaaaaca agcgccggac cgcgctgctg
      181 ggagggggcc aacgccgtat tgacgcgcag cacaagcgag gaaagctaac agccagggag
      241 aggatcagtc tcttgctgga ccctggcagc tttgttgaga gcgacatgtt tgtggaacac
      301 agatgtgcag attttggaat ggctgctgat aagaataagt ttcctggaga cagcgtggtc
      361 actggacgag gccgaatcaa tggaagattg gtttatgtct tcagtcagga ttttacagtt
      421 tttggaggca gtctgtcagg agcacatgcc caaaagatct gcaaaatcat ggaccaggcc
      481 ataacggtgg gggctccagt gattgggctg aatgactctg ggggagcacg gatccaagaa
      541 ggagtggagt ctttggctgg ctatgcagac atctttctga ggaatgttac ggcatccgga
      601 gtcatccctc agatttctct gatcatgggc ccatgtgctg gtggggccgt ctactcccca
      661 gccctaacag acttcacgtt catggtaaag gacacctcct acctgttcat cactggccct
      721 gatgttgtga agtctgtcac caatgaggat gttacccagg aggagctcgg tggtgccaag
      781 acccacacca ccatgtcagg tgtggcccac agagcttttg aaaatgatgt tgatgccttg
      841 tgtaatctcc gggatttctt caactacctg cccctgagca gtcaggaccc ggctcccgtc
      901 cgtgagtgcc acgatcccag tgaccgtctg gttcctgagc ttgacacaat tgtccctttg
      961 gaatcaacca aagcctacaa catggtggac atcatacact ctgttgttga tgagcgtgaa
     1021 ttttttgaga tcatgcccaa ttatgccaag aacatcattg ttggttttgc aagaatgaat
     1081 gggaggactg ttggaattgt tggcaaccaa cctaaggtgg cctcaggatg cttggatatt
     1141 aattcatctg tgaaaggggc tcgttttgtc agattctgtg atgcattcaa tattccactc
     1201 atcacttttg ttgatgtccc tggctttcta cctggcacag cacaggaata cgggggcatc
     1261 atccggcatg gtgccaagct tctctacgca tttgctgagg caactgtacc caaagtcaca
     1321 gtcatcacca ggaaggccta tggaggtgcc tatgatgtca tgagctctaa gcacctttgt
     1381 ggtgatacca actatgcctg gcccaccgca gagattgcag tcatgggagc aaagggcgct
     1441 gtggagatca tcttcaaagg gcatgagaat gtggaagctg ctcaggcaga gtacatcgag
     1501 aagtttgcca accctttccc tgcagcagtg cgagggtttg tggatgacat catccaacct
     1561 tcttccacac gtgcccgaat ctgctgtgac ctggatgtct tggccagcaa gaaggtacaa
     1621 cgtccttgga gaaaacatgc aaatattcca ttgtaaacaa atcaaaggaa aagaaaccaa
     1681 gaactgaatt actgtctgcc cattcacatc ccattcctgc cttttgcaat catgaaacct
     1741 gggaatccaa atagttggat aacttagaat aactaagttt attaaattct agaaagatc
//
LOCUS       NM_000533               3011 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens proteolipid protein 1 (PLP1), transcript variant 1,
            mRNA.
ACCESSION   NM_000533
VERSION     NM_000533.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3011)
  AUTHORS   Zhou X, Wang Y, He R, Liu Z, Xu Q, Guo J, Yan X, Li J, Tang B, Zeng
            S and Sun Q.
  TITLE     Microdeletion in distal PLP1 enhancers causes hereditary spastic
            paraplegia 2
  JOURNAL   Ann Clin Transl Neurol 10 (9), 1590-1602 (2023)
   PUBMED   37475517
  REMARK    GeneRIF: Microdeletion in distal PLP1 enhancers causes hereditary
            spastic paraplegia 2.
REFERENCE   2  (bases 1 to 3011)
  AUTHORS   Sarret C, Combes P, Micheau P, Gelot A, Boespflug-Tanguy O and
            Vaurs-Barriere C.
  TITLE     Novel neuronal proteolipid protein isoforms encoded by the human
            myelin proteolipid protein 1 gene
  JOURNAL   Neuroscience 166 (2), 522-538 (2010)
   PUBMED   20036320
  REMARK    GeneRIF: These results suggest for the first time that PLP may have
            functions in humans not only in oligodendrocytes but also in neurons
            and could be implicated in axono-glial communication
REFERENCE   3  (bases 1 to 3011)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24501781
REFERENCE   4  (bases 1 to 3011)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301682
REFERENCE   5  (bases 1 to 3011)
  AUTHORS   Wolf,N.I., van Spaendonk,R.M.L., Hobson,G.M. and Kamholz,J.
  TITLE     PLP1 Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301361
REFERENCE   6  (bases 1 to 3011)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 3011)
  AUTHORS   Pratt VM, Trofatter JA, Larsen MB, Hodes ME and Dlouhy SR.
  TITLE     New variant in exon 3 of the proteolipid protein (PLP) gene in a
            family with Pelizaeus-Merzbacher disease
  JOURNAL   Am J Med Genet 43 (3), 642-646 (1992)
   PUBMED   1376553
REFERENCE   8  (bases 1 to 3011)
  AUTHORS   Simons,R., Alon,N. and Riordan,J.R.
  TITLE     Human myelin DM-20 proteolipid protein deletion defined by cDNA
            sequence
  JOURNAL   Biochem Biophys Res Commun 146 (2), 666-671 (1987)
   PUBMED   2441695
REFERENCE   9  (bases 1 to 3011)
  AUTHORS   Kronquist KE, Crandall BF, Macklin WB and Campagnoni AT.
  TITLE     Expression of myelin proteins in the developing human spinal cord:
            cloning and sequencing of human proteolipid protein cDNA
  JOURNAL   J Neurosci Res 18 (3), 395-401 (1987)
   PUBMED   2449536
REFERENCE   10  (bases 1 to 3011)
  AUTHORS   Diehl,H.J., Schaich,M., Budzinski,R.M. and Stoffel,W.
  TITLE     Individual exons encode the integral membrane domains of human
            myelin proteolipid protein
  JOURNAL   Proc Natl Acad Sci U S A 83 (24), 9807-9811 (1986)
   PUBMED   3467339
  REMARK    Erratum:[Hum Genet. 1991 Apr;86(6):617-8. PMID: 1709135]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1043899.1,
            SRR3476690.844864.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000621218.5/ ENSP00000484450.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA299940.1, AK292728.1 and
            BC095452.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000533.4.
            Summary: This gene encodes a transmembrane proteolipid protein that
            is the predominant component of myelin. The encoded protein may
            play a role in the compaction, stabilization, and maintenance of
            myelin sheaths, as well as in oligodendrocyte development and
            axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher
            disease and spastic paraplegia type 2. Alternatively splicing
            results in multiple transcript variants, including the DM20 splice
            variant. [provided by RefSeq, Feb 2015].
            Transcript Variant: This variant (1, also known as PLP) encodes the
            longest isoform (1). Variants 1 and 3 encode the same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3011
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.2"
     gene            1..3011
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD; SPG2"
                     /note="proteolipid protein 1"
                     /db_xref="GeneID:5354"
                     /db_xref="HGNC:HGNC:9086"
                     /db_xref="MIM:300401"
     misc_feature    118..120
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD; SPG2"
                     /note="upstream in-frame stop codon"
     CDS             157..990
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD; SPG2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     lipophilin; myelin proteolipid protein; major myelin
                     proteolipid protein"
                     /codon_start=1
                     /product="myelin proteolipid protein isoform 1"
                     /protein_id="NP_000524.3"
                     /db_xref="CCDS:CCDS14513.1"
                     /db_xref="GeneID:5354"
                     /db_xref="HGNC:HGNC:9086"
                     /db_xref="MIM:300401"
                     /translation="MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEK
                     LIETYFSKNYQDYEYLINVIHAFQYVIYGTASFFFLYGALLLAEGFYTTGAVRQIFGDY
                     KTTICGKGLSATVTGGQKGRGSRGQHQAHSLERVCHCLGKWLGHPDKFVGITYALTVVW
                     LLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSLCADARMYGVLPWNAFPGKVCGS
                     NLLSICKTAEFQMTFHLFIAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF"
     misc_feature    184..264
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD; SPG2"
                     /note="propagated from UniProtKB/Swiss-Prot (P60201.2);
                     transmembrane region"
     misc_feature    346..420
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD; SPG2"
                     /note="propagated from UniProtKB/Swiss-Prot (P60201.2);
                     transmembrane region"
     misc_feature    496..498
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD; SPG2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P60203; propagated from
                     UniProtKB/Swiss-Prot (P60201.2); phosphorylation site"
     misc_feature    502..504
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD; SPG2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P60203; propagated from
                     UniProtKB/Swiss-Prot (P60201.2); phosphorylation site"
     misc_feature    508..510
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD; SPG2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P60203; propagated from
                     UniProtKB/Swiss-Prot (P60201.2); phosphorylation site"
     misc_feature    610..687
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD; SPG2"
                     /note="propagated from UniProtKB/Swiss-Prot (P60201.2);
                     transmembrane region"
     misc_feature    856..936
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD; SPG2"
                     /note="propagated from UniProtKB/Swiss-Prot (P60201.2);
                     transmembrane region"
     regulatory      2984..2989
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD; SPG2"
                     /note="hexamer: AATAAA"
     polyA_site      3011
                     /gene="PLP1"
                     /gene_synonym="GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD; SPG2"
                     /note="major polyA site"
ORIGIN
        1 cttttcattg caggagaaga ggacaaagat actcagagag aaaaagtaaa agaccgaaga
       61 aggaggctgg agagaccagg atccttccag ctgaacaaag tcagccacaa agcagactag
      121 ccagccggct acaattggag tcagagtccc aaagacatgg gcttgttaga gtgctgtgca
      181 agatgtctgg taggggcccc ctttgcttcc ctggtggcca ctggattgtg tttctttggg
      241 gtggcactgt tctgtggctg tggacatgaa gccctcactg gcacagaaaa gctaattgag
      301 acctatttct ccaaaaacta ccaagactat gagtatctca tcaatgtgat ccatgccttc
      361 cagtatgtca tctatggaac tgcctctttc ttcttccttt atggggccct cctgctggct
      421 gagggcttct acaccaccgg cgcagtcagg cagatctttg gcgactacaa gaccaccatc
      481 tgcggcaagg gcctgagcgc aacggtaaca gggggccaga aggggagggg ttccagaggc
      541 caacatcaag ctcattcttt ggagcgggtg tgtcattgtt tgggaaaatg gctaggacat
      601 cccgacaagt ttgtgggcat cacctatgcc ctgaccgttg tgtggctcct ggtgtttgcc
      661 tgctctgctg tgcctgtgta catttacttc aacacctgga ccacctgcca gtctattgcc
      721 ttccccagca agacctctgc cagtataggc agtctctgtg ctgatgccag aatgtatggt
      781 gttctcccat ggaatgcttt ccctggcaag gtttgtggct ccaaccttct gtccatctgc
      841 aaaacagctg agttccaaat gaccttccac ctgtttattg ctgcatttgt gggggctgca
      901 gctacactgg tttccctgct caccttcatg attgctgcca cttacaactt tgccgtcctt
      961 aaactcatgg gccgaggcac caagttctga tcccccgtag aaatccccct ttctctaata
     1021 gcgaggctct aaccacacag cctacaatgc tgcgtctccc atcttaactc tttgcctttg
     1081 ccaccaactg gccctcttct tacttgatga gtgtaacaag aaaggagagt cttgcagtga
     1141 ttaaggtctc tctttggact ctcccctctt atgtacctct tttagtcatt ttgcttcata
     1201 gctggttcct gctagaaatg ggaaatgcct aagaagatga cttcccaact gcaagtcaca
     1261 aaggaatgga ggctctaatt gaattttcaa gcatctcctg aggatcagaa agtaatttct
     1321 tctcaaaggg tacttccact gatggaaaca aagtggaagg aaagatgctc aggtacagag
     1381 aaggaatgtc tttggtcctc ttgccatcta taggggccaa atatattctc tttggtgtac
     1441 aaaatggaat tcattctggt ctctctatta ccactgaaga tagaagaaaa aagaatgtca
     1501 gaaaaacaat aagagcgttt gcccaaatct gcctattgca gctgggagaa gggggtcaaa
     1561 gcaaggatct ttcacccaca gaaagagagc actgaccccg atggcgatgg actactgaag
     1621 ccctaactca gccaacctta cttacagcat aagggagcgt agaatctgtg tagacgaagg
     1681 gggcatctgg ccttacacct cgttagggaa gagaaacagg gtgttgtcag catcttctca
     1741 ctcccttctc cttgataaca gctaccatga caaccctgtg gtttccaagg agctgagaat
     1801 agaaggaaac tagcttacat gagaacagac tggcctgagg agcagcagtt gctggtggct
     1861 aatggtgtaa cctgagatgg ccctctggta gacacaggat agataactct ttggatagca
     1921 tgtctttttt tctgttaatt agttgtgtac tctggcctct gtcatatctt cacaatggtg
     1981 ctcatttcat ggggtattat ccattcagtc atcgtaggtg atttgaaggt cttgatttgt
     2041 tttagaatga tgcacatttc atgtattcca gtttgtttat tacttatttg gggttgcatc
     2101 agaaatgtct ggagaataat tctttgatta tgactgtttt ttaaactagg aaaattggac
     2161 attaagcatc acaaatgata ttaaaaattg gctagttgaa tctattggga ttttctacaa
     2221 gtattctgcc tttgcagaaa cagatttggt gaatttgaat ctcaatttga gtaatctgat
     2281 cgttctttct agctaatgga aaatgatttt acttagcaat gttatcttgg tgtgttaaga
     2341 gttaggttta acataaaggt tattttctcc tgatatagat cacataacag aatgcaccag
     2401 tcatcagcta ttcagttggt aagcttccag gaaaaaggac aggcagaaag agtttgagac
     2461 ctgaatagct cccagatttc agtcttttcc tgtttttgtt aactttgggt taaaaaaaaa
     2521 aaaagtctga ttggttttaa ttgaaggaaa gatttgtact acagttcttt tgttgtaaag
     2581 agttgtgttg ttcttttccc ccaaagtggt ttcagcaata tttaaggaga tgtaagagct
     2641 ttacaaaaag acacttgata cttgttttca aaccagtata caagataagc ttccaggctg
     2701 catagaagga ggagagggaa aatgttttgt aagaaaccaa tcaagataaa ggacagtgaa
     2761 gtaatccgta ccttgtgttt tgttttgatt taataacata acaaataacc aacccttccc
     2821 tgaaaacctc acatgcatac atacacatat atacacacac aaagagagtt aatcaactga
     2881 aagtgtttcc ttcatttctg atatagaatt gcaattttaa cacacataaa ggataaactt
     2941 ttagaaactt atcttacaaa gtgtatttta taaaattaaa gaaaataaaa ttaagaatgt
     3001 tctcaatcaa a
//
LOCUS       NM_000534               3156 bp    mRNA    linear   PRI 19-MAR-2023
DEFINITION  Homo sapiens PMS1 homolog 1, mismatch repair system component
            (PMS1), transcript variant 1, mRNA.
ACCESSION   NM_000534
VERSION     NM_000534.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3156)
  AUTHORS   Landry KK, Seward DJ, Dragon JA, Slavik M, Xu K, McKinnon WC,
            Colello L, Sweasy J, Wallace SS, Cuke M and Wood ME.
  TITLE     Investigation of discordant sibling pairs from hereditary breast
            cancer families and analysis of a rare PMS1 variant
  JOURNAL   Cancer Genet 260-261, 30-36 (2022)
   PUBMED   34852986
  REMARK    GeneRIF: Investigation of discordant sibling pairs from hereditary
            breast cancer families and analysis of a rare PMS1 variant.
REFERENCE   2  (bases 1 to 3156)
  AUTHORS   Graur,F., Puia,A., Mois,E., Pop,P., Berar,M., Elisei,R., Zaharie,F.,
            Nechita,V., Rusu,I., Buiga,R., Puia,C. and Al Hajjar,N.
  TITLE     Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their correlations
            with clinical data in rectal mucinous adenocarcinoma
  JOURNAL   Ann Ital Chir 93, 188-194 (2022)
   PUBMED   34807001
  REMARK    GeneRIF: Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their
            correlations with clinical data in rectal mucinous adenocarcinoma.
REFERENCE   3  (bases 1 to 3156)
  AUTHORS   Kim M, Park J, Bouhaddou M, Kim K, Rojc A, Modak M, Soucheray M,
            McGregor MJ, O'Leary P, Wolf D, Stevenson E, Foo TK, Mitchell D,
            Herrington KA, Munoz DP, Tutuncuoglu B, Chen KH, Zheng F, Kreisberg
            JF, Diolaiti ME, Gordan JD, Coppe JP, Swaney DL, Xia B, van 't Veer
            L, Ashworth A, Ideker T and Krogan NJ.
  TITLE     A protein interaction landscape of breast cancer
  JOURNAL   Science 374 (6563), eabf3066 (2021)
   PUBMED   34591612
REFERENCE   4  (bases 1 to 3156)
  AUTHORS   Yang J, Huang Y, Feng Y, Li H, Feng T, Chen J, Yin L, Wang W, Wang
            S, Liu Y, Song Y, Li Y, Jin J, Tan W and Lin D.
  TITLE     Associations of Genetic Variations in Mismatch Repair Genes MSH3 and
            PMS1 with Acute Adverse Events and Survival in Patients with Rectal
            Cancer Receiving Postoperative Chemoradiotherapy
  JOURNAL   Cancer Res Treat 51 (3), 1198-1206 (2019)
   PUBMED   30590005
  REMARK    GeneRIF: Study suggests that rs1233255 SNP in PMS1 is associated
            with acute adverse events (AEs), and three SNPs, including
            rs4920657, rs5743030 and rs5743100 in PMS1, are associated with
            survival of rectal cancer patients receiving postoperative
            chemoradiotherapy (CRT). Therefore, these polymorphisms may be
            potential independent biomarkers for predicting AEs and prognosis in
            rectal cancer patients receiving postoperative CRT.
REFERENCE   5  (bases 1 to 3156)
  AUTHORS   Traver S, Coulombe P, Peiffer I, Hutchins JR, Kitzmann M, Latreille
            D and Mechali M.
  TITLE     MCM9 Is Required for Mammalian DNA Mismatch Repair
  JOURNAL   Mol Cell 59 (5), 831-839 (2015)
   PUBMED   26300262
REFERENCE   6  (bases 1 to 3156)
  AUTHORS   Kolodner R.
  TITLE     Biochemistry and genetics of eukaryotic mismatch repair
  JOURNAL   Genes Dev 10 (12), 1433-1442 (1996)
   PUBMED   8666228
  REMARK    Review article
REFERENCE   7  (bases 1 to 3156)
  AUTHORS   Horii A, Han HJ, Sasaki S, Shimada M and Nakamura Y.
  TITLE     Cloning, characterization and chromosomal assignment of the human
            genes homologous to yeast PMS1, a member of mismatch repair genes
  JOURNAL   Biochem Biophys Res Commun 204 (3), 1257-1264 (1994)
   PUBMED   7980603
REFERENCE   8  (bases 1 to 3156)
  AUTHORS   Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM,
            Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM et al.
  TITLE     Mutations of two PMS homologues in hereditary nonpolyposis colon
            cancer
  JOURNAL   Nature 371 (6492), 75-80 (1994)
   PUBMED   8072530
REFERENCE   9  (bases 1 to 3156)
  AUTHORS   Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen
            CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD et al.
  TITLE     Mutation of a mutL homolog in hereditary colon cancer
  JOURNAL   Science 263 (5153), 1625-1629 (1994)
   PUBMED   8128251
REFERENCE   10  (bases 1 to 3156)
  AUTHORS   Idos,G. and Valle,L.
  TITLE     Lynch Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301390
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC096330.1, SRR14038193.3056086.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000441310.7/ ENSP00000406490.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC347859.1, BC096330.1,
            BC096332.1 and BM677668.1.
            On Dec 4, 2019 this sequence version replaced NM_000534.4.
            Summary: This gene encodes a protein belonging to the DNA mismatch
            repair mutL/hexB family. This protein is thought to be involved in
            the repair of DNA mismatches, and it can form heterodimers with
            MLH1, a known DNA mismatch repair protein. Mutations in this gene
            cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3)
            either alone or in combination with mutations in other genes
            involved in the HNPCC phenotype, which is also known as Lynch
            syndrome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3156
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     gene            1..3156
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="PMS1 homolog 1, mismatch repair system component"
                     /db_xref="GeneID:5378"
                     /db_xref="HGNC:HGNC:9121"
                     /db_xref="MIM:600258"
     misc_feature    1
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="alternative transcription start site"
     misc_feature    36
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="alternative transcription start site"
     misc_feature    47
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="alternative transcription start site"
     misc_feature    111
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="alternative transcription start site"
     misc_feature    135..137
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="upstream in-frame stop codon"
     CDS             165..2963
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="isoform a is encoded by transcript variant 1; human
                     homolog of yeast mutL; PMS1 postmeiotic segregation
                     increased 1; PMS1 protein homolog 1; mismatch repair gene
                     PMSL1; rhabdomyosarcoma antigen MU-RMS-40.10B;
                     rhabdomyosarcoma antigen MU-RMS-40.10E; DNA mismatch repair
                     protein PMS1"
                     /codon_start=1
                     /product="PMS1 protein homolog 1 isoform a"
                     /protein_id="NP_000525.1"
                     /db_xref="CCDS:CCDS2302.1"
                     /db_xref="GeneID:5378"
                     /db_xref="HGNC:HGNC:9121"
                     /db_xref="MIM:600258"
                     /translation="MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLE
                     NYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLENLTTYGFRGEALGSICCIA
                     EVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAK
                     KCKDEIKKIQDLLMSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNM
                     ESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQKDILKLIRHHYN
                     LKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPL
                     PSTNSYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDES
                     GKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQTEYSKTCF
                     ISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKI
                     LVPEKSLPCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMS
                     ASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATKDLERYNSQM
                     KRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNI
                     KMVQIPFSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVE
                     EALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGSTYLSDPR
                     LTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPR
                     KVISYLEGEAVRLSRQLPMYLSKEDIQDIIYRMKHQFGNEIKECVHGRPFFHHLTYLPE
                     TT"
     misc_feature    1557..1643
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="propagated from UniProtKB/Swiss-Prot (P54277.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3134..3139
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="hexamer: AATAAA"
     polyA_site      3156
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="major polyA site"
ORIGIN
        1 agtgccgcgc tctctgcacc cgctctgccg cgcgcgtgcg tgctgggtgc gggtgcgggt
       61 gcggggttgg gcctgcgcat cgggtgagac gctggctgct tgcggctagt ggatggtaat
      121 tgcctgcctc gcgctagcag gaagctgctc tgttaaaagc gaaaatgaaa caattgcctg
      181 cggcaacagt tcgactcctt tcaagttctc agatcatcac ttcggtggtc agtgttgtaa
      241 aagagcttat tgaaaactcc ttggatgctg gtgccacaag cgtagatgtt aaactggaga
      301 actatggatt tgataaaatt gaggtgcgag ataacgggga gggtatcaag gctgttgatg
      361 cacctgtaat ggcaatgaag tactacacct caaaaataaa tagtcatgaa gatcttgaaa
      421 atttgacaac ttacggtttt cgtggagaag ccttggggtc aatttgttgt atagctgagg
      481 ttttaattac aacaagaacg gctgctgata attttagcac ccagtatgtt ttagatggca
      541 gtggccacat actttctcag aaaccttcac atcttggtca aggtacaact gtaactgctt
      601 taagattatt taagaatcta cctgtaagaa agcagtttta ctcaactgca aaaaaatgta
      661 aagatgaaat aaaaaagatc caagatctcc tcatgagctt tggtatcctt aaacctgact
      721 taaggattgt ctttgtacat aacaaggcag ttatttggca gaaaagcaga gtatcagatc
      781 acaagatggc tctcatgtca gttctgggga ctgctgttat gaacaatatg gaatcctttc
      841 agtaccactc tgaagaatct cagatttatc tcagtggatt tcttccaaag tgtgatgcag
      901 accactcttt cactagtctt tcaacaccag aaagaagttt catcttcata aacagtcgac
      961 cagtacatca aaaagatatc ttaaagttaa tccgacatca ttacaatctg aaatgcctaa
     1021 aggaatctac tcgtttgtat cctgttttct ttctgaaaat cgatgttcct acagctgatg
     1081 ttgatgtaaa tttaacacca gataaaagcc aagtattatt acaaaataag gaatctgttt
     1141 taattgctct tgaaaatctg atgacgactt gttatggacc attacctagt acaaattctt
     1201 atgaaaataa taaaacagat gtttccgcag ctgacatcgt tcttagtaaa acagcagaaa
     1261 cagatgtgct ttttaataaa gtggaatcat ctggaaagaa ttattcaaat gttgatactt
     1321 cagtcattcc attccaaaat gatatgcata atgatgaatc tggaaaaaac actgatgatt
     1381 gtttaaatca ccagataagt attggtgact ttggttatgg tcattgtagt agtgaaattt
     1441 ctaacattga taaaaacact aagaatgcat ttcaggacat ttcaatgagt aatgtatcat
     1501 gggagaactc tcagacggaa tatagtaaaa cttgttttat aagttccgtt aagcacaccc
     1561 agtcagaaaa tggcaataaa gaccatatag atgagagtgg ggaaaatgag gaagaagcag
     1621 gtcttgaaaa ctcttcggaa atttctgcag atgagtggag caggggaaat atacttaaaa
     1681 attcagtggg agagaatatt gaacctgtga aaattttagt gcctgaaaaa agtttaccat
     1741 gtaaagtaag taataataat tatccaatcc ctgaacaaat gaatcttaat gaagattcat
     1801 gtaacaaaaa atcaaatgta atagataata aatctggaaa agttacagct tatgatttac
     1861 ttagcaatcg agtaatcaag aaacccatgt cagcaagtgc tctttttgtt caagatcatc
     1921 gtcctcagtt tctcatagaa aatcctaaga ctagtttaga ggatgcaaca ctacaaattg
     1981 aagaactgtg gaagacattg agtgaagagg aaaaactgaa atatgaagag aaggctacta
     2041 aagacttgga acgatacaat agtcaaatga agagagccat tgaacaggag tcacaaatgt
     2101 cactaaaaga tggcagaaaa aagataaaac ccaccagcgc atggaatttg gcccagaagc
     2161 acaagttaaa aacctcatta tctaatcaac caaaacttga tgaactcctt cagtcccaaa
     2221 ttgaaaaaag aaggagtcaa aatattaaaa tggtacagat ccccttttct atgaaaaact
     2281 taaaaataaa ttttaagaaa caaaacaaag ttgacttaga agagaaggat gaaccttgct
     2341 tgatccacaa tctcaggttt cctgatgcat ggctaatgac atccaaaaca gaggtaatgt
     2401 tattaaatcc atatagagta gaagaagccc tgctatttaa aagacttctt gagaatcata
     2461 aacttcctgc agagccactg gaaaagccaa ttatgttaac agagagtctt tttaatggat
     2521 ctcattattt agacgtttta tataaaatga cagcagatga ccaaagatac agtggatcaa
     2581 cttacctgtc tgatcctcgt cttacagcga atggtttcaa gataaaattg ataccaggag
     2641 tttcaattac tgaaaattac ttggaaatag aaggaatggc taattgtctc ccattctatg
     2701 gagtagcaga tttaaaagaa attcttaatg ctatattaaa cagaaatgca aaggaagttt
     2761 atgaatgtag acctcgcaaa gtgataagtt atttagaggg agaagcagtg cgtctatcca
     2821 gacaattacc catgtactta tcaaaagagg acatccaaga cattatctac agaatgaagc
     2881 accagtttgg aaatgaaatt aaagagtgtg ttcatggtcg cccatttttt catcatttaa
     2941 cctatcttcc agaaactaca tgattaaata tgtttaagaa gattagttac cattgaaatt
     3001 ggttctgtca taaaacagca tgagtctggt tttaaattat ctttgtatta tgtgtcacat
     3061 ggttattttt taaatgagga ttcactgact tgtttttata ttgaaaaaag ttccacgtat
     3121 tgtagaaaac gtaaataaac taatatagac tattca
//
LOCUS       NM_000535               5093 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens PMS1 homolog 2, mismatch repair system component
            (PMS2), transcript variant 1, mRNA.
ACCESSION   NM_000535
VERSION     NM_000535.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5093)
  AUTHORS   Bryant P, Walton Bernstedt S, Thutkawkorapin J, Backman AS, Lindblom
            A and Lagerstedt-Robinson K.
  TITLE     Exome sequencing in a Swedish family with PMS2 mutation with varying
            penetrance of colorectal cancer: investigating the presence of
            genetic risk modifiers in colorectal cancer risk
  JOURNAL   Eur J Cancer Prev 32 (2), 113-118 (2023)
   PUBMED   36134613
  REMARK    GeneRIF: Exome sequencing in a Swedish family with PMS2 mutation
            with varying penetrance of colorectal cancer: investigating the
            presence of genetic risk modifiers in colorectal cancer risk.
REFERENCE   2  (bases 1 to 5093)
  AUTHORS   Pan X, Mizukami H, Hara Y, Yamada T, Yamazaki K, Kudoh K, Takeuchi
            Y, Sasaki T, Kushibiki H, Igawa A and Hakamada K.
  TITLE     Diabetes mellitus impacts on expression of DNA mismatch repair
            protein PMS2 and tumor microenvironment in pancreatic ductal
            adenocarcinoma
  JOURNAL   J Diabetes Investig 14 (1), 132-144 (2023)
   PUBMED   36453157
  REMARK    GeneRIF: Diabetes mellitus impacts on expression of DNA mismatch
            repair protein PMS2 and tumor microenvironment in pancreatic ductal
            adenocarcinoma.
REFERENCE   3  (bases 1 to 5093)
  AUTHORS   Sacho EJ, Kadyrov FA, Modrich P, Kunkel TA and Erie DA.
  TITLE     Direct visualization of asymmetric adenine-nucleotide-induced
            conformational changes in MutL alpha
  JOURNAL   Mol Cell 29 (1), 112-121 (2008)
   PUBMED   18206974
  REMARK    GeneRIF: Adenine nucleotides induce large asymmetric conformational
            changes in full-length human MutL alpha. These changes are
            associated with significant increases in secondary structure.
REFERENCE   4  (bases 1 to 5093)
  AUTHORS   Kadyrov FA, Dzantiev L, Constantin N and Modrich P.
  TITLE     Endonucleolytic function of MutLalpha in human mismatch repair
  JOURNAL   Cell 126 (2), 297-308 (2006)
   PUBMED   16873062
REFERENCE   5  (bases 1 to 5093)
  AUTHORS   Constantin N, Dzantiev L, Kadyrov FA and Modrich P.
  TITLE     Human mismatch repair: reconstitution of a nick-directed
            bidirectional reaction
  JOURNAL   J Biol Chem 280 (48), 39752-39761 (2005)
   PUBMED   16188885
REFERENCE   6  (bases 1 to 5093)
  AUTHORS   Nicolaides NC, Carter KC, Shell BK, Papadopoulos N, Vogelstein B and
            Kinzler KW.
  TITLE     Genomic organization of the human PMS2 gene family
  JOURNAL   Genomics 30 (2), 195-206 (1995)
   PUBMED   8586419
REFERENCE   7  (bases 1 to 5093)
  AUTHORS   Nicolaides NC, Kinzler KW and Vogelstein B.
  TITLE     Analysis of the 5' region of PMS2 reveals heterogeneous transcripts
            and a novel overlapping gene
  JOURNAL   Genomics 29 (2), 329-334 (1995)
   PUBMED   8666379
REFERENCE   8  (bases 1 to 5093)
  AUTHORS   Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM,
            Krush AJ, Berk T, Cohen Z, Tetu B et al.
  TITLE     The molecular basis of Turcot's syndrome
  JOURNAL   N Engl J Med 332 (13), 839-847 (1995)
   PUBMED   7661930
REFERENCE   9  (bases 1 to 5093)
  AUTHORS   Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM,
            Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM et al.
  TITLE     Mutations of two PMS homologues in hereditary nonpolyposis colon
            cancer
  JOURNAL   Nature 371 (6492), 75-80 (1994)
   PUBMED   8072530
REFERENCE   10  (bases 1 to 5093)
  AUTHORS   Idos,G. and Valle,L.
  TITLE     Lynch Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301390
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.156178.1,
            SRR1803612.49903.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000265849.12/ ENSP00000265849.7
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA774159.1, BC093921.1,
            BP251389.1, AK294661.1, AK312390.1, AI433648.1, DB548617.1,
            AC005995.3 and BX537558.1.
            On Nov 23, 2018 this sequence version replaced NM_000535.6.
            Summary: The protein encoded by this gene is a key component of the
            mismatch repair system that functions to correct DNA mismatches and
            small insertions and deletions that can occur during DNA
            replication and homologous recombination. This protein forms
            heterodimers with the gene product of the mutL homolog 1 (MLH1)
            gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer
            possesses an endonucleolytic activity that is activated following
            recognition of mismatches and insertion/deletion loops by the
            MutS-alpha and MutS-beta heterodimers, and is necessary for removal
            of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the
            C-terminus of the protein encoded by this gene that forms part of
            the active site of the nuclease. Mutations in this gene have been
            associated with hereditary nonpolyposis colorectal cancer (HNPCC;
            also known as Lynch syndrome) and Turcot syndrome. [provided by
            RefSeq, Apr 2016].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5093
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.1"
     gene            1..5093
                     /gene="PMS2"
                     /gene_synonym="HNPCC4; LYNCH4; MLH4; MMRCS4; PMS-2; PMS2CL;
                     PMSL2"
                     /note="PMS1 homolog 2, mismatch repair system component"
                     /db_xref="GeneID:5395"
                     /db_xref="HGNC:HGNC:9122"
                     /db_xref="MIM:600259"
     CDS             31..2619
                     /gene="PMS2"
                     /gene_synonym="HNPCC4; LYNCH4; MLH4; MMRCS4; PMS-2; PMS2CL;
                     PMSL2"
                     /note="isoform a is encoded by transcript variant 1;
                     mismatch repair endonuclease PMS2; PMS1 protein homolog 2;
                     DNA mismatch repair protein PMS2; PMS2 postmeiotic
                     segregation increased 2; PMS1 homolog 2, mismatch repair
                     protein"
                     /codon_start=1
                     /product="mismatch repair endonuclease PMS2 isoform a"
                     /protein_id="NP_000526.2"
                     /db_xref="CCDS:CCDS5343.1"
                     /db_xref="GeneID:5395"
                     /db_xref="HGNC:HGNC:9122"
                     /db_xref="MIM:600259"
                     /translation="MERAESSSTEPAKAIKPIDRKSVHQICSGQVVLSLSTAVKELVEN
                     SLDAGATNIDLKLKDYGVDLIEVSDNGCGVEEENFEGLTLKHHTSKIQEFADLTQVETF
                     GFRGEALSSLCALSDVTISTCHASAKVGTRLMFDHNGKIIQKTPYPRPRGTTVSVQQLF
                     STLPVRHKEFQRNIKKEYAKMVQVLHAYCIISAGIRVSCTNQLGQGKRQPVVCTGGSPS
                     IKENIGSVFGQKQLQSLIPFVQLPPSDSVCEEYGLSCSDALHNLFYISGFISQCTHGVG
                     RSSTDRQFFFINRRPCDPAKVCRLVNEVYHMYNRHQYPFVVLNISVDSECVDINVTPDK
                     RQILLQEEKLLLAVLKTSLIGMFDSDVNKLNVSQQPLLDVEGNLIKMHAADLEKPMVEK
                     QDQSPSLRTGEEKKDVSISRLREAFSLRHTTENKPHSPKTPEPRRSPLGQKRGMLSSST
                     SGAISDKGVLRPQKEAVSSSHGPSDPTDRAEVEKDSGHGSTSVDSEGFSIPDTGSHCSS
                     EYAASSPGDRGSQEHVDSQEKAPKTDDSFSDVDCHSNQEDTGCKFRVLPQPTNLATPNT
                     KRFKKEEILSSSDICQKLVNTQDMSASQVDVAVKINKKVVPLDFSMSSLAKRIKQLHHE
                     AQQSEGEQNYRKFRAKICPGENQAAEDELRKEISKTMFAEMEIIGQFNLGFIITKLNED
                     IFIVDQHATDEKYNFEMLQQHTVLQGQRLIAPQTLNLTAVNEAVLIENLEIFRKNGFDF
                     VIDENAPVTERAKLISLPTSKNWTFGPQDVDELIFMLSDSPGVMCRPSRVKQMFASRAC
                     RKSVMIGTALNTSEMKKLITHMGEMDHPWNCPHGRPTMRHIANLGVISQN"
     misc_feature    1201..1686
                     /gene="PMS2"
                     /gene_synonym="HNPCC4; LYNCH4; MLH4; MMRCS4; PMS-2; PMS2CL;
                     PMSL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P54278.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1747..1749
                     /gene="PMS2"
                     /gene_synonym="HNPCC4; LYNCH4; MLH4; MMRCS4; PMS-2; PMS2CL;
                     PMSL2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54278.2); phosphorylation site"
     misc_feature    1759..1770
                     /gene="PMS2"
                     /gene_synonym="HNPCC4; LYNCH4; MLH4; MMRCS4; PMS-2; PMS2CL;
                     PMSL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P54278.2);
                     Region: Nuclear localization signal.
                     /evidence=ECO:0000269|PubMed:29175432"
     misc_feature    1819..1821
                     /gene="PMS2"
                     /gene_synonym="HNPCC4; LYNCH4; MLH4; MMRCS4; PMS-2; PMS2CL;
                     PMSL2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P54278.2); phosphorylation site"
     regulatory      2728..2733
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMS2"
                     /gene_synonym="HNPCC4; LYNCH4; MLH4; MMRCS4; PMS-2; PMS2CL;
                     PMSL2"
                     /note="hexamer: AATACA"
     polyA_site      2751
                     /gene="PMS2"
                     /gene_synonym="HNPCC4; LYNCH4; MLH4; MMRCS4; PMS-2; PMS2CL;
                     PMSL2"
                     /note="major polyA site"
     polyA_site      2777
                     /gene="PMS2"
                     /gene_synonym="HNPCC4; LYNCH4; MLH4; MMRCS4; PMS-2; PMS2CL;
                     PMSL2"
                     /note="major polyA site"
     regulatory      4846..4851
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMS2"
                     /gene_synonym="HNPCC4; LYNCH4; MLH4; MMRCS4; PMS-2; PMS2CL;
                     PMSL2"
                     /note="hexamer: AATAAA"
     polyA_site      4868
                     /gene="PMS2"
                     /gene_synonym="HNPCC4; LYNCH4; MLH4; MMRCS4; PMS-2; PMS2CL;
                     PMSL2"
     regulatory      5064..5069
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMS2"
                     /gene_synonym="HNPCC4; LYNCH4; MLH4; MMRCS4; PMS-2; PMS2CL;
                     PMSL2"
                     /note="hexamer: AATAAA"
     polyA_site      5093
                     /gene="PMS2"
                     /gene_synonym="HNPCC4; LYNCH4; MLH4; MMRCS4; PMS-2; PMS2CL;
                     PMSL2"
                     /note="major polyA site"
ORIGIN
        1 agtccccgag gcggatcggg tgttgcatcc atggagcgag ctgagagctc gagtacagaa
       61 cctgctaagg ccatcaaacc tattgatcgg aagtcagtcc atcagatttg ctctgggcag
      121 gtggtactga gtctaagcac tgcggtaaag gagttagtag aaaacagtct ggatgctggt
      181 gccactaata ttgatctaaa gcttaaggac tatggagtgg atcttattga agtttcagac
      241 aatggatgtg gggtagaaga agaaaacttc gaaggcttaa ctctgaaaca tcacacatct
      301 aagattcaag agtttgccga cctaactcag gttgaaactt ttggctttcg gggggaagct
      361 ctgagctcac tttgtgcact gagcgatgtc accatttcta cctgccacgc atcggcgaag
      421 gttggaactc gactgatgtt tgatcacaat gggaaaatta tccagaaaac cccctacccc
      481 cgccccagag ggaccacagt cagcgtgcag cagttatttt ccacactacc tgtgcgccat
      541 aaggaatttc aaaggaatat taagaaggag tatgccaaaa tggtccaggt cttacatgca
      601 tactgtatca tttcagcagg catccgtgta agttgcacca atcagcttgg acaaggaaaa
      661 cgacagcctg tggtatgcac aggtggaagc cccagcataa aggaaaatat cggctctgtg
      721 tttgggcaga agcagttgca aagcctcatt ccttttgttc agctgccccc tagtgactcc
      781 gtgtgtgaag agtacggttt gagctgttcc gatgctctgc ataatctttt ttacatctca
      841 ggtttcattt cacaatgcac gcatggagtt ggaaggagtt caacagacag acagtttttc
      901 tttatcaacc ggcggccttg tgacccagca aaggtctgca gactcgtgaa tgaggtctac
      961 cacatgtata atcgacacca gtatccattt gttgttctta acatttctgt tgattcagaa
     1021 tgcgttgata tcaatgttac tccagataaa aggcaaattt tgctacaaga ggaaaagctt
     1081 ttgttggcag ttttaaagac ctctttgata ggaatgtttg atagtgatgt caacaagcta
     1141 aatgtcagtc agcagccact gctggatgtt gaaggtaact taataaaaat gcatgcagcg
     1201 gatttggaaa agcccatggt agaaaagcag gatcaatccc cttcattaag gactggagaa
     1261 gaaaaaaaag acgtgtccat ttccagactg cgagaggcct tttctcttcg tcacacaaca
     1321 gagaacaagc ctcacagccc aaagactcca gaaccaagaa ggagccctct aggacagaaa
     1381 aggggtatgc tgtcttctag cacttcaggt gccatctctg acaaaggcgt cctgagacct
     1441 cagaaagagg cagtgagttc cagtcacgga cccagtgacc ctacggacag agcggaggtg
     1501 gagaaggact cggggcacgg cagcacttcc gtggattctg aggggttcag catcccagac
     1561 acgggcagtc actgcagcag cgagtatgcg gccagctccc caggggacag gggctcgcag
     1621 gaacatgtgg actctcagga gaaagcgcct aaaactgacg actctttttc agatgtggac
     1681 tgccattcaa accaggaaga taccggatgt aaatttcgag ttttgcctca gccaactaat
     1741 ctcgcaaccc caaacacaaa gcgttttaaa aaagaagaaa ttctttccag ttctgacatt
     1801 tgtcaaaagt tagtaaatac tcaggacatg tcagcctctc aggttgatgt agctgtgaaa
     1861 attaataaga aagttgtgcc cctggacttt tctatgagtt ctttagctaa acgaataaag
     1921 cagttacatc atgaagcaca gcaaagtgaa ggggaacaga attacaggaa gtttagggca
     1981 aagatttgtc ctggagaaaa tcaagcagcc gaagatgaac taagaaaaga gataagtaaa
     2041 acgatgtttg cagaaatgga aatcattggt cagtttaacc tgggatttat aataaccaaa
     2101 ctgaatgagg atatcttcat agtggaccag catgccacgg acgagaagta taacttcgag
     2161 atgctgcagc agcacaccgt gctccagggg cagaggctca tagcacctca gactctcaac
     2221 ttaactgctg ttaatgaagc tgttctgata gaaaatctgg aaatatttag aaagaatggc
     2281 tttgattttg ttatcgatga aaatgctcca gtcactgaaa gggctaaact gatttccttg
     2341 ccaactagta aaaactggac cttcggaccc caggacgtcg atgaactgat cttcatgctg
     2401 agcgacagcc ctggggtcat gtgccggcct tcccgagtca agcagatgtt tgcctccaga
     2461 gcctgccgga agtcggtgat gattgggact gctcttaaca caagcgagat gaagaaactg
     2521 atcacccaca tgggggagat ggaccacccc tggaactgtc cccatggaag gccaaccatg
     2581 agacacatcg ccaacctggg tgtcatttct cagaactgac cgtagtcact gtatggaata
     2641 attggtttta tcgcagattt ttatgttttg aaagacagag tcttcactaa ccttttttgt
     2701 tttaaaatga acctgctact taaaaaaaat acacatcaca cccatttaaa agtgatcttg
     2761 agaacctttt caaaccagat ggagcattgc ttgcaaattt tttttctcta tgtttgcatg
     2821 cgctcgtgtg tgtgtgtcca ggcaagaaca cattttataa aaataagaac acttgggctg
     2881 ggcatggtgg ctcatgcctg tgatcgcagc actttgggag gccgaggccg gcggatcacc
     2941 tgagatcaga agttcgagac cagcctgacc aacatggaga aaccctgcct ctactaaaaa
     3001 tacaaaatta gccaggtgtg ctggcgcatg cctgtaatcc ccgctaccca ggaggctgag
     3061 gcaggagaat cgcttgaacc cgggagacgg aggttgcagt gaaccgagat tgcgccactg
     3121 cgctccagcc tgggtgagat agaacaagac tgtgtctcaa aaaacaaaac aaaacaaaac
     3181 aaaaaaaaaa aaaccaaacc actttggaag ttactcaggc ctctgctctg gctggacata
     3241 gtttagtcta taactttcaa cccttaatga taattaaatt catctttgtt taatttcata
     3301 aatttaaaag tagggtcctt ttcagttagt gattctcagc cctgattcac attaaatttt
     3361 taaacacggg ggattctctg cccggctgga agaaaatgac tggatgggac aggggtcact
     3421 atttgaaaca ttcctctgtg cggccaaggt cgcaaaatgc tgtcctcgca ggggaacaaa
     3481 aagagtttga tttcccataa tttgatgctg tgatttggtt tcctcaggat gtgaactgta
     3541 gaacattcca gttactggcc ttgaatggtt ctgggaatat aagaatccct gtctgtcttt
     3601 tcaaatagtt ttcatggaac cttgtcctgt ttgaacttgg ctgaaaatgg aagtaaagat
     3661 gccctcttgg gggcccagag atgacagatg tggctccccc tgctgccccc accccttctc
     3721 cagactgtgg gcggctcccc ttcctgcttt agaatccctc agatggagga ggcagtacag
     3781 tagtcactgt gccatcgtgt ctggcactgt gctggcgtgg tctgcaggat cccacttatg
     3841 aactctccag attgggagct gtggcaggat aacagccccc aagacagctg tgtcctaatc
     3901 cccagaacct gtgaccacgc tgcctcacgt ggcagaaggg actcggcagg tgtgattgag
     3961 tgaaggatct tttttttttt tttctttgag atgaagtttc gctcttgttg cccaggctgg
     4021 agttcaatag catgatctca gctcactgca gcctctgcct cccaggttca agtgattctc
     4081 ccacctcagc ctcccgagta gctgggatta caggtgtcca gaaccatact ggctaatttt
     4141 tgtattttta gtagagacag ggtttcacca tgttgaccag gctggtctcg aactcctgac
     4201 ctcaggtgat ccgaccgcct cggcctccca aagtgctggg attacaggtg tgagccatca
     4261 tgcctggctg agttaaggat cttgcaacag agagattatc ctggattgtc tgggtgggcc
     4321 cagtccattg ggtgagtcct tcaaaggtgg agacctttcc ctgctggcca gagagaggct
     4381 gtcttgctgg ttttggagat ggaaggaggt accactagtc aaggattgca agcagtctct
     4441 agaacaggga ttccaacact ccggacacag accagtagtg gtccatggcc tattaggaag
     4501 tggggtgcac agcaggttag gggccggcaa gccagcgaag cttcatctgt atttatagcc
     4561 actccccgtc gctggcgtta ccacccgagc tccgcctcct gtcacatcag cggtgggcat
     4621 tagattctca tagcagcacg agccctattg tgaactgcac acacgaggga tgtaggttgc
     4681 acgctcctta tgagaatctg atgcctgatg atctgtcact gtctcccgtc acccccagat
     4741 ggggctgtct agttgcagga aaacaagctc agggctccca ctgagtctct gtgatggtga
     4801 gttgtagaat tatttaatta tatgttacaa tgtaataata gtagaaataa agtgcacaat
     4861 aaatgcaatg cacttgaatc gtcctgaaac catccctccc cgaccccaat ccatggaaaa
     4921 attgtgttcc gcgaaaccgg tctctggtgc caaaaaggtt ggggaccgct tctggaaaag
     4981 ctggaaaagg caagaaaacg cattctctcc ctcagcctct ggaaggaacc agcactgtgg
     5041 gactaattta catactgtag ggtaataaat ttgtgttgct tcgaaccact aaa
//
LOCUS       NM_000536               2388 bp    mRNA    linear   PRI 09-JUL-2023
DEFINITION  Homo sapiens recombination activating 2 (RAG2), transcript variant
            1, mRNA.
ACCESSION   NM_000536
VERSION     NM_000536.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2388)
  AUTHORS   Schuetz C, Gerke J, Ege M, Walter J, Kusters M, Worth A, Kanakry JA,
            Dimitrova D, Wolska-Kusnierz B, Chen K, Unal E, Karakukcu M,
            Pashchenko O, Leiding J, Kawai T, Amrolia PJ, Berghuis D, Buechner
            J, Buchbinder D, Cowan MJ, Gennery AR, Gungor T, Heimall J, Miano M,
            Meyts I, Morris EC, Riviere J, Sharapova SO, Shaw PJ, Slatter M,
            Honig M, Veys P, Fischer A, Cavazzana M, Moshous D, Schulz A, Albert
            MH, Puck JM, Lankester AC, Notarangelo LD and Neven B.
  TITLE     Hypomorphic RAG deficiency: impact of disease burden on survival and
            thymic recovery argues for early diagnosis and HSCT
  JOURNAL   Blood 141 (7), 713-724 (2023)
   PUBMED   36279417
  REMARK    GeneRIF: Hypomorphic RAG deficiency: impact of disease burden on
            survival and thymic recovery argues for early diagnosis and HSCT.
REFERENCE   2  (bases 1 to 2388)
  AUTHORS   Jin M, Alam MM, Liu AY and Jiang P.
  TITLE     Rag2-/- accelerates lipofuscin accumulation in the brain:
            Implications for human stem cell brain transplantation studies
  JOURNAL   Stem Cell Reports 17 (11), 2381-2391 (2022)
   PUBMED   36270284
  REMARK    GeneRIF: Rag2(-/-) accelerates lipofuscin accumulation in the brain:
            Implications for human stem cell brain transplantation studies.
            Erratum:[Stem Cell Reports. 2023 Jan 10;18(1):413-415. PMID:
            36630907]
REFERENCE   3  (bases 1 to 2388)
  AUTHORS   Csomos K, Ujhazi B, Blazso P, Herrera JL, Tipton CM, Kawai T, Gordon
            S, Ellison M, Wu K, Stowell M, Haynes L, Cruz R, Zakota B, Nguyen J,
            Altrich M, Geier CB, Sharapova S, Dasso JF, Leiding JW, Smith G,
            Al-Herz W, de Barros Dorna M, Fadugba O, Fronkova E, Kanderova V,
            Svaton M, Henrickson SE, Hernandez JD, Kuijpers T, Kandilarova SM,
            Naumova E, Milota T, Sediva A, Moshous D, Neven B, Saco T, Sargur R,
            Savic S, Sleasman J, Sunkersett G, Ward BR, Komatsu M, Pittaluga S,
            Kumanovics A, Butte MJ, Cancro MP, Pillai S, Meffre E, Notarangelo
            LD and Walter JE.
  TITLE     Partial RAG deficiency in humans induces dysregulated peripheral
            lymphocyte development and humoral tolerance defect with
            accumulation of T-bet+ B cells
  JOURNAL   Nat Immunol 23 (8), 1256-1272 (2022)
   PUBMED   35902638
  REMARK    GeneRIF: Partial RAG deficiency in humans induces dysregulated
            peripheral lymphocyte development and humoral tolerance defect with
            accumulation of T-bet(+) B cells.
REFERENCE   4  (bases 1 to 2388)
  AUTHORS   Gan T, Wang Y, Liu Y, Schatz DG and Hu J.
  TITLE     RAG2 abolishes RAG1 aggregation to facilitate V(D)J recombination
  JOURNAL   Cell Rep 37 (2), 109824 (2021)
   PUBMED   34644584
  REMARK    GeneRIF: RAG2 abolishes RAG1 aggregation to facilitate V(D)J
            recombination.
REFERENCE   5  (bases 1 to 2388)
  AUTHORS   Zhang L, Ge JY, Zheng YW, Sun Z, Wang C, Peng Z, Wu B, Fang M,
            Furuya K, Ma X, Shao Y, Ohkohchi N, Oda T, Fan J, Pan G, Li D and
            Hui L.
  TITLE     Survival-Assured Liver Injury Preconditioning (SALIC) Enables Robust
            Expansion of Human Hepatocytes in Fah-/- Rag2-/- IL2rg-/- Rats
  JOURNAL   Adv Sci (Weinh) 8 (19), e2101188 (2021)
   PUBMED   34382351
  REMARK    GeneRIF: Survival-Assured Liver Injury Preconditioning (SALIC)
            Enables Robust Expansion of Human Hepatocytes in Fah(-/-) Rag2(-/-)
            IL2rg(-/-) Rats.
REFERENCE   6  (bases 1 to 2388)
  AUTHORS   Lynch S, Kelleher D, McManus R and O'Farrelly C.
  TITLE     RAG1 and RAG2 expression in human intestinal epithelium: evidence of
            extrathymic T cell differentiation
  JOURNAL   Eur J Immunol 25 (5), 1143-1147 (1995)
   PUBMED   7774617
REFERENCE   7  (bases 1 to 2388)
  AUTHORS   Sherrington PD, Forster A, Seawright A, van Heyningen V and Rabbitts
            TH.
  TITLE     Human RAG2, like RAG1, is on chromosome 11 band p13 and therefore
            not linked to ataxia telangiectasia complementation groups
  JOURNAL   Genes Chromosomes Cancer 5 (4), 404-406 (1992)
   PUBMED   1283330
REFERENCE   8  (bases 1 to 2388)
  AUTHORS   Ichihara Y, Hirai M and Kurosawa Y.
  TITLE     Sequence and chromosome assignment to 11p13-p12 of human RAG genes
  JOURNAL   Immunol Lett 33 (3), 277-284 (1992)
   PUBMED   1428003
REFERENCE   9  (bases 1 to 2388)
  AUTHORS   Bories JC, Cayuela JM, Loiseau P and Sigaux F.
  TITLE     Expression of human recombination activating genes (RAG1 and RAG2)
            in neoplastic lymphoid cells: correlation with cell differentiation
            and antigen receptor expression
  JOURNAL   Blood 78 (8), 2053-2061 (1991)
   PUBMED   1832998
REFERENCE   10  (bases 1 to 2388)
  AUTHORS   Oettinger MA, Schatz DG, Gorka C and Baltimore D.
  TITLE     RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J
            recombination
  JOURNAL   Science 248 (4962), 1517-1523 (1990)
   PUBMED   2360047
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC022397.1, AK292664.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000311485.8/ ENSP00000308620.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB146077.1, AK292664.1,
            AW058148.1 and BC022397.1.
            On Jun 2, 2019 this sequence version replaced NM_000536.3.
            Summary: This gene encodes a protein that is involved in the
            initiation of V(D)J recombination during B and T cell development.
            This protein forms a complex with the product of the adjacent
            recombination activating gene 1, and this complex can form
            double-strand breaks by cleaving DNA at conserved recombination
            signal sequences. The recombination activating gene 1 component is
            thought to contain most of the catalytic activity, while the
            N-terminal of the recombination activating gene 2 component is
            thought to form a six-bladed propeller in the active core that
            serves as a binding scaffold for the tight association of the
            complex with DNA. A C-terminal plant homeodomain finger-like motif
            in this protein is necessary for interactions with chromatin
            components, specifically with histone H3 that is trimethylated at
            lysine 4. Mutations in this gene cause Omenn syndrome, a form of
            severe combined immunodeficiency associated with autoimmune-like
            symptoms. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the shortest
            transcript. Variants 1, 3 and 4 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..2388
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p12"
     gene            1..2388
                     /gene="RAG2"
                     /gene_synonym="RAG-2"
                     /note="recombination activating 2"
                     /db_xref="GeneID:5897"
                     /db_xref="HGNC:HGNC:9832"
                     /db_xref="MIM:179616"
     misc_feature    70..72
                     /gene="RAG2"
                     /gene_synonym="RAG-2"
                     /note="upstream in-frame stop codon"
     CDS             163..1746
                     /gene="RAG2"
                     /gene_synonym="RAG-2"
                     /note="recombination activating gene 2"
                     /codon_start=1
                     /product="V(D)J recombination-activating protein 2"
                     /protein_id="NP_000527.2"
                     /db_xref="CCDS:CCDS7903.1"
                     /db_xref="GeneID:5897"
                     /db_xref="HGNC:HGNC:9832"
                     /db_xref="MIM:179616"
                     /translation="MSLQMVTVSNNIALIQPGFSLMNFDGQVFFFGQKGWPKRSCPTGV
                     FHLDVKHNHVKLKPTIFSKDSCYLPPLRYPATCTFKGSLESEKHQYIIHGGKTPNNEVS
                     DKIYVMSIVCKNNKKVTFRCTEKDLVGDVPEARYGHSINVVYSRGKSMGVLFGGRSYMP
                     STHRTTEKWNSVADCLPCVFLVDFEFGCATSYILPELQDGLSFHVSIAKNDTIYILGGH
                     SLANNIRPANLYRIRVDLPLGSPAVNCTVLPGGISVSSAILTQTNNDEFVIVGGYQLEN
                     QKRMICNIISLEDNKIEIREMETPDWTPDIKHSKIWFGSNMGNGTVFLGIPGDNKQVVS
                     EGFYFYMLKCAEDDTNEEQTTFTNSQTSTEDPGDSTPFEDSEEFCFSAEANSFDGDDEF
                     DTYNEDDEEDESETGYWITCCPTCDVDINTWVPFYSTELNKPAMIYCSHGDGHWVHAQC
                     MDLAERTLIHLSAGSNKYYCNEHVEIARALHTPQRVLPLKKPPMKSLRKKGSGKILTPA
                     KKSFLRRLFD"
     misc_feature    1231..1302
                     /gene="RAG2"
                     /gene_synonym="RAG-2"
                     /note="propagated from UniProtKB/Swiss-Prot (P55895.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1910..1915
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAG2"
                     /gene_synonym="RAG-2"
                     /note="hexamer: AATAAA"
     polyA_site      1931
                     /gene="RAG2"
                     /gene_synonym="RAG-2"
     regulatory      2126..2131
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAG2"
                     /gene_synonym="RAG-2"
                     /note="hexamer: AAGAAA"
     polyA_site      2144
                     /gene="RAG2"
                     /gene_synonym="RAG-2"
                     /note="major polyA site"
ORIGIN
        1 actctcttta cagtcagcct tctgcttgcc acagtcatag tgggcagtca gtgaatcttc
       61 cccaagtgct gacaattaat acctggttta gcggcaaaga ttcagagagg cgtgagcagc
      121 ccctctggcc ttcagacaaa aatctacgta ccatcagaaa ctatgtctct gcagatggta
      181 acagtcagta ataacatagc cttaattcag ccaggcttct cactgatgaa ttttgatgga
      241 caagttttct tctttggaca aaaaggctgg cccaaaagat cctgccccac tggagttttc
      301 catctggatg taaagcataa ccatgtcaaa ctgaagccta caattttctc taaggattcc
      361 tgctacctcc ctcctcttcg ctacccagcc acttgcacat tcaaaggcag cttggagtct
      421 gaaaagcatc aatacatcat ccatggaggg aaaacaccaa acaatgaggt ttcagataag
      481 atttatgtca tgtctattgt ttgcaagaac aacaaaaagg ttacttttcg ctgcacagag
      541 aaagacttgg taggagatgt tcctgaagcc agatatggtc attccattaa tgtggtgtac
      601 agccgaggga aaagtatggg tgttctcttt ggaggacgct catacatgcc ttctacccac
      661 agaaccacag aaaaatggaa tagtgtagct gactgcctgc cctgtgtttt cctggtggat
      721 tttgaatttg ggtgtgctac atcatacatt cttccagaac ttcaggatgg gctatctttt
      781 catgtctcta ttgccaaaaa tgacaccatc tatattttag gaggacattc acttgccaat
      841 aatatccggc ctgccaacct gtacagaata agggttgatc ttcccctggg tagcccagct
      901 gtgaattgca cagtcttgcc aggaggaatc tctgtctcca gtgcaatcct gactcaaact
      961 aacaatgatg aatttgttat tgttggtggc tatcagcttg aaaatcaaaa aagaatgatc
     1021 tgcaacatca tctctttaga ggacaacaag atagaaattc gtgagatgga gaccccagat
     1081 tggaccccag acattaagca cagcaagata tggtttggaa gcaacatggg aaatggaact
     1141 gtttttcttg gcataccagg agacaataaa caagttgttt cagaaggatt ctatttctat
     1201 atgttgaaat gtgctgaaga tgatactaat gaagagcaga caacattcac aaacagtcaa
     1261 acatcaacag aagatccagg ggattccact ccctttgaag actctgaaga attttgtttc
     1321 agtgcagaag caaatagttt tgatggtgat gatgaatttg acacctataa tgaagatgat
     1381 gaagaagatg agtctgagac aggctactgg attacatgct gccctacttg tgatgtggat
     1441 atcaacactt gggtaccatt ctattcaact gagctcaaca aacccgccat gatctactgc
     1501 tctcatgggg atgggcactg ggtccatgct cagtgcatgg atctggcaga acgcacactc
     1561 atccatctgt cagcaggaag caacaagtat tactgcaatg agcatgtgga gatagcaaga
     1621 gctctacaca ctccccaaag agtcctaccc ttaaaaaagc ctccaatgaa atccctccgt
     1681 aaaaaaggtt ctggaaaaat cttgactcct gccaagaaat cctttcttag aaggttgttt
     1741 gattagtttt gcaaaagcct ttcagattca ggtgtatgga atttttgaat ctatttttaa
     1801 aatcataaca ttgattttaa aaatacattt ttgtttattt aaaatgccta tgttttcttt
     1861 tagttacatg aattaagggc cagaaaaaag tgtttataat gcaatgataa ataaagtcat
     1921 tctagaccct atacattttg aaaatatttt acccaaatac tcaatttact aatttattct
     1981 tcactgagga tttctgatct gattttttat tcaacaaacc ttaaacaccc agaagcagta
     2041 ataatcatcg aggtatgttt atatttatta tataagtctt ggtaacaaat aacctataaa
     2101 gtgtttatga caaatttagc caataaagaa attaacaccc aaaagaatta aattgattat
     2161 tttgtgcaac ataacaattc ggcagttggc caaaacttaa aagcaagatc tactacatcc
     2221 cacattagtg ttctttatat accttcaagc aaccctttgg attatgccca tgaacaagtt
     2281 agtttctcat agctttacag atgtagatat aaatataaat atatgtatac atatagatag
     2341 ataatgttct ccactgacac aaaagaagaa ataaataatc tacatcaa
//
LOCUS       NM_000537               1462 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens renin (REN), mRNA.
ACCESSION   NM_000537
VERSION     NM_000537.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1462)
  AUTHORS   Mkhize BC, Mosili P, Ngubane PS, Sibiya NH and Khathi A.
  TITLE     The Relationship between Renin-Angiotensin-Aldosterone System (RAAS)
            Activity, Osteoporosis and Estrogen Deficiency in Type 2 Diabetes
  JOURNAL   Int J Mol Sci 24 (15), 11963 (2023)
   PUBMED   37569338
  REMARK    GeneRIF: The Relationship between Renin-Angiotensin-Aldosterone
            System (RAAS) Activity, Osteoporosis and Estrogen Deficiency in Type
            2 Diabetes. Review article Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1462)
  AUTHORS   Chen H, Peng J, Wang T, Wen J, Chen S, Huang Y and Zhang Y.
  TITLE     Counter-regulatory renin-angiotensin system in hypertension: Review
            and update in the era of COVID-19 pandemic
  JOURNAL   Biochem Pharmacol 208, 115370 (2023)
   PUBMED   36481346
  REMARK    GeneRIF: Counter-regulatory renin-angiotensin system in
            hypertension: Review and update in the era of COVID-19 pandemic.
            Review article
REFERENCE   3  (bases 1 to 1462)
  AUTHORS   Sehn F, Buttner H, Godau B, Muller M, Sarcan S, Offermann A, Perner
            S, Kramer MW, Merseburger AS and Roesch MC.
  TITLE     The alternative renin-angiotensin-system (RAS) signalling pathway in
            prostate cancer and its link to the current COVID-19 pandemic
  JOURNAL   Mol Biol Rep 50 (2), 1809-1816 (2023)
   PUBMED   36478297
  REMARK    GeneRIF: The alternative renin-angiotensin-system (RAS) signalling
            pathway in prostate cancer and its link to the current COVID-19
            pandemic. Review article
REFERENCE   4  (bases 1 to 1462)
  AUTHORS   Takeda Y, Itaya-Hironaka A, Yamauchi A, Makino M,
            Sakuramoto-Tsuchida S, Ota H, Kawaguchi R and Takasawa S.
  TITLE     Intermittent Hypoxia Upregulates the Renin and Cd38 mRNAs in
            Renin-Producing Cells via the Downregulation of miR-203
  JOURNAL   Int J Mol Sci 22 (18), 10127 (2021)
   PUBMED   34576290
  REMARK    GeneRIF: Intermittent Hypoxia Upregulates the Renin and Cd38 mRNAs
            in Renin-Producing Cells via the Downregulation of miR-203.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1462)
  AUTHORS   Sasaki N, Morimoto S, Suda C, Shimizu S and Ichihara A.
  TITLE     Urinary soluble (pro)renin receptor excretion is associated with
            urine pH in humans
  JOURNAL   PLoS One 16 (7), e0254688 (2021)
   PUBMED   34310595
  REMARK    GeneRIF: Urinary soluble (pro)renin receptor excretion is associated
            with urine pH in humans. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1462)
  AUTHORS   Zivna,M., Kidd,K., Kmoch,S. and Bleyer,A.J.
  TITLE     Autosomal Dominant Tubulointerstitial Kidney Disease - REN
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   21473025
REFERENCE   7  (bases 1 to 1462)
  AUTHORS   Dhanaraj V, Dealwis CG, Frazao C, Badasso M, Sibanda BL, Tickle IJ,
            Cooper JB, Driessen HP, Newman M, Aguilar C et al.
  TITLE     X-ray analyses of peptide-inhibitor complexes define the structural
            basis of specificity for human and mouse renins
  JOURNAL   Nature 357 (6378), 466-472 (1992)
   PUBMED   1608447
REFERENCE   8  (bases 1 to 1462)
  AUTHORS   Benjannet S, Reudelhuber T, Mercure C, Rondeau N, Chretien M and
            Seidah NG.
  TITLE     Proprotein conversion is determined by a multiplicity of factors
            including convertase processing, substrate specificity, and
            intracellular environment. Cell type-specific processing of human
            prorenin by the convertase PC1
  JOURNAL   J Biol Chem 267 (16), 11417-11423 (1992)
   PUBMED   1597471
REFERENCE   9  (bases 1 to 1462)
  AUTHORS   van Hooft IM, Grobbee DE, Derkx FH, de Leeuw PW, Schalekamp MA and
            Hofman A.
  TITLE     Renal hemodynamics and the renin-angiotensin-aldosterone system in
            normotensive subjects with hypertensive and normotensive parents
  JOURNAL   N Engl J Med 324 (19), 1305-1311 (1991)
   PUBMED   2017226
REFERENCE   10  (bases 1 to 1462)
  AUTHORS   Ishizuka Y, Shoda A, Yoshida S, Kawamura Y, Haraguchi K and Murakami
            K.
  TITLE     Isolation and characterization of recombinant human prorenin in
            Chinese hamster ovary cells
  JOURNAL   J Biochem 109 (1), 30-35 (1991)
   PUBMED   2016271
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.71284.1,
            SRR5189667.180113.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related         :: involved in SARS-CoV-2 infection
            MANE Ensembl match          :: ENST00000272190.9/ ENSP00000272190.8
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP321283.1 and BC033474.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000537.3.
            Summary: This gene encodes renin, an aspartic protease that is
            secreted by the kidneys. Renin is a part of the
            renin-angiotensin-aldosterone system involved in regulation of
            blood pressure, and electrolyte balance. This enzyme catalyzes the
            first step in the activation pathway of angiotensinogen by cleaving
            angiotensinogen to form angiotensin I, which is then converted to
            angiotensin II by angiotensin I converting enzyme. This cascade can
            result in aldosterone release, narrowing of blood vessels, and
            increase in blood pressure as angiotension II is a vasoconstrictive
            peptide. Transcript variants that encode different protein isoforms
            and that arise from alternative splicing and the use of alternative
            promoters have been described, but their full-length nature has not
            been determined. Mutations in this gene have been shown to cause
            hyperuricemic nephropathy familial juvenile 2, familial
            hyperproreninemia, and renal tubular dysgenesis. [provided by
            RefSeq, May 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1462
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..1462
                     /gene="REN"
                     /gene_synonym="ADTKD4; HNFJ2; RTD"
                     /note="renin"
                     /db_xref="GeneID:5972"
                     /db_xref="HGNC:HGNC:9958"
                     /db_xref="MIM:179820"
     CDS             45..1265
                     /gene="REN"
                     /gene_synonym="ADTKD4; HNFJ2; RTD"
                     /EC_number="3.4.23.15"
                     /note="renin precursor, renal; angiotensin-forming enzyme;
                     angiotensinogenase"
                     /codon_start=1
                     /product="renin preproprotein"
                     /protein_id="NP_000528.1"
                     /db_xref="CCDS:CCDS30981.1"
                     /db_xref="GeneID:5972"
                     /db_xref="HGNC:HGNC:9958"
                     /db_xref="MIM:179820"
                     /translation="MDGWRRMPRWGLLLLLWGSCTFGLPTDTTTFKRIFLKRMPSIRES
                     LKERGVDMARLGPEWSQPMKRLTLGNTTSSVILTNYMDTQYYGEIGIGTPPQTFKVVFD
                     TGSSNVWVPSSKCSRLYTACVYHKLFDASDSSSYKHNGTELTLRYSTGTVSGFLSQDII
                     TVGGITVTQMFGEVTEMPALPFMLAEFDGVVGMGFIEQAIGRVTPIFDNIISQGVLKED
                     VFSFYYNRDSENSQSLGGQIVLGGSDPQHYEGNFHYINLIKTGVWQIQMKGVSVGSSTL
                     LCEDGCLALVDTGASYISGSTSSIEKLMEALGAKKRLFDYVVKCNEGPTLPDISFHLGG
                     KEYTLTSADYVFQESYSSKKLCTLAIHAMDIPPPTGPTWALGATFIRKFYTEFDRRNNR
                     IGFALAR"
     sig_peptide     45..113
                     /gene="REN"
                     /gene_synonym="ADTKD4; HNFJ2; RTD"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     proprotein      114..1262
                     /gene="REN"
                     /gene_synonym="ADTKD4; HNFJ2; RTD"
                     /product="renin proprotein"
     mat_peptide     243..1262
                     /gene="REN"
                     /gene_synonym="ADTKD4; HNFJ2; RTD"
                     /product="renin"
     misc_feature    255..257
                     /gene="REN"
                     /gene_synonym="ADTKD4; HNFJ2; RTD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:2493678; propagated from
                     UniProtKB/Swiss-Prot (P00797.1); glycosylation site"
     misc_feature    465..467
                     /gene="REN"
                     /gene_synonym="ADTKD4; HNFJ2; RTD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:2493678; propagated from
                     UniProtKB/Swiss-Prot (P00797.1); glycosylation site"
     regulatory      1442..1447
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REN"
                     /gene_synonym="ADTKD4; HNFJ2; RTD"
                     /note="hexamer: AATAAA"
     polyA_site      1462
                     /gene="REN"
                     /gene_synonym="ADTKD4; HNFJ2; RTD"
                     /note="major polyA site"
ORIGIN
        1 agaacctcag tggatctcag agagagcccc agactgaggg aagcatggat ggatggagaa
       61 ggatgcctcg ctggggactg ctgctgctgc tctggggctc ctgtaccttt ggtctcccga
      121 cagacaccac cacctttaaa cggatcttcc tcaagagaat gccctcaatc cgagaaagcc
      181 tgaaggaacg aggtgtggac atggccaggc ttggtcccga gtggagccaa cccatgaaga
      241 ggctgacact tggcaacacc acctcctccg tgatcctcac caactacatg gacacccagt
      301 actatggcga gattggcatc ggcaccccac cccagacctt caaagtcgtc tttgacactg
      361 gttcgtccaa tgtttgggtg ccctcctcca agtgcagccg tctctacact gcctgtgtgt
      421 atcacaagct cttcgatgct tcggattcct ccagctacaa gcacaatgga acagaactca
      481 ccctccgcta ttcaacaggg acagtcagtg gctttctcag ccaggacatc atcaccgtgg
      541 gtggaatcac ggtgacacag atgtttggag aggtcacgga gatgcccgcc ttacccttca
      601 tgctggccga gtttgatggg gttgtgggca tgggcttcat tgaacaggcc attggcaggg
      661 tcacccctat cttcgacaac atcatctccc aaggggtgct aaaagaggac gtcttctctt
      721 tctactacaa cagagattcc gagaattccc aatcgctggg aggacagatt gtgctgggag
      781 gcagcgaccc ccagcattac gaagggaatt tccactatat caacctcatc aagactggtg
      841 tctggcagat tcaaatgaag ggggtgtctg tggggtcatc caccttgctc tgtgaagacg
      901 gctgcctggc attggtagac accggtgcat cctacatctc aggttctacc agctccatag
      961 agaagctcat ggaggccttg ggagccaaga agaggctgtt tgattatgtc gtgaagtgta
     1021 acgagggccc tacactcccc gacatctctt tccacctggg aggcaaagaa tacacgctca
     1081 ccagcgcgga ctatgtattt caggaatcct acagtagtaa aaagctgtgc acactggcca
     1141 tccacgccat ggatatcccg ccacccactg gacccacctg ggccctgggg gccaccttca
     1201 tccgaaagtt ctacacagag tttgatcggc gtaacaaccg cattggcttc gccttggccc
     1261 gctgaggccc tctgccaccc aggcaggccc tgccttcagc cctggcccag agctggaaca
     1321 ctctctgaga tgcccctctg cctgggctta tgccctcaga tggagacatt ggatgtggag
     1381 ctcctgctgg atgcgtgccc tgacccctgc accagccctt ccctgctttg aggacaaaga
     1441 gaataaagac ttcatgttca ca
//
LOCUS       NM_000538               2306 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens regulatory factor X associated protein (RFXAP), mRNA.
ACCESSION   NM_000538
VERSION     NM_000538.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2306)
  AUTHORS   Ding G, Xu X, Li D, Chen Y, Wang W, Ping D, Jia S and Cao L.
  TITLE     Fisetin inhibits proliferation of pancreatic adenocarcinoma by
            inducing DNA damage via RFXAP/KDM4A-dependent histone H3K36
            demethylation
  JOURNAL   Cell Death Dis 11 (10), 893 (2020)
   PUBMED   33093461
  REMARK    GeneRIF: Fisetin inhibits proliferation of pancreatic adenocarcinoma
            by inducing DNA damage via RFXAP/KDM4A-dependent histone H3K36
            demethylation. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2306)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (bases 1 to 2306)
  AUTHORS   Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA,
            Weisswange I, Mansfeld J, Buchholz F, Hyman AA and Mann M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   4  (bases 1 to 2306)
  AUTHORS   Ding G, Zhou L, Qian Y, Fu M, Chen J, Chen J, Xiang J, Wu Z, Jiang G
            and Cao L.
  TITLE     Pancreatic cancer-derived exosomes transfer miRNAs to dendritic
            cells and inhibit RFXAP expression via miR-212-3p
  JOURNAL   Oncotarget 6 (30), 29877-29888 (2015)
   PUBMED   26337469
  REMARK    GeneRIF: Data show a negative correlation between microRNA
            miR-212-3p and regulatory factor X-associated protein (RFXAP) in
            pancreatic cancer (PC) tissue.
REFERENCE   5  (bases 1 to 2306)
  AUTHORS   Nie J, Xu C, Jin J, Aka JA, Tempel W, Nguyen V, You L, Weist R, Min
            J, Pawson T and Yang XJ.
  TITLE     Ankyrin repeats of ANKRA2 recognize a PxLPxL motif on the 3M
            syndrome protein CCDC8
  JOURNAL   Structure 23 (4), 700-712 (2015)
   PUBMED   25752541
REFERENCE   6  (bases 1 to 2306)
  AUTHORS   Masternak K, Barras E, Zufferey M, Conrad B, Corthals G, Aebersold
            R, Sanchez JC, Hochstrasser DF, Mach B and Reith W.
  TITLE     A gene encoding a novel RFX-associated transactivator is mutated in
            the majority of MHC class II deficiency patients
  JOURNAL   Nat Genet 20 (3), 273-277 (1998)
   PUBMED   9806546
REFERENCE   7  (bases 1 to 2306)
  AUTHORS   Villard J, Lisowska-Grospierre B, van den Elsen P, Fischer A, Reith
            W and Mach B.
  TITLE     Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC
            class II deficiency
  JOURNAL   N Engl J Med 337 (11), 748-753 (1997)
   PUBMED   9287230
REFERENCE   8  (bases 1 to 2306)
  AUTHORS   Durand B, Sperisen P, Emery P, Barras E, Zufferey M, Mach B and
            Reith W.
  TITLE     RFXAP, a novel subunit of the RFX DNA binding complex is mutated in
            MHC class II deficiency
  JOURNAL   EMBO J 16 (5), 1045-1055 (1997)
   PUBMED   9118943
REFERENCE   9  (bases 1 to 2306)
  AUTHORS   Mach B, Steimle V, Martinez-Soria E and Reith W.
  TITLE     Regulation of MHC class II genes: lessons from a disease
  JOURNAL   Annu Rev Immunol 14, 301-331 (1996)
   PUBMED   8717517
  REMARK    Review article
REFERENCE   10  (bases 1 to 2306)
  AUTHORS   Reith W, Siegrist CA, Durand B, Barras E and Mach B.
  TITLE     Function of major histocompatibility complex class II promoters
            requires cooperative binding between factors RFX and NF-Y
  JOURNAL   Proc Natl Acad Sci U S A 91 (2), 554-558 (1994)
   PUBMED   8290561
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC026088.1, SRR11853558.6302.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000255476.3/ ENSP00000255476.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI823132.1, BC026088.1 and
            AL159973.16.
            On Dec 4, 2019 this sequence version replaced NM_000538.3.
            Summary: Major histocompatibility (MHC) class II molecules are
            transmembrane proteins that have a central role in development and
            control of the immune system. The protein encoded by this gene,
            along with regulatory factor X-associated ankyrin-containing
            protein and regulatory factor-5, forms a complex that binds to the
            X box motif of certain MHC class II gene promoters and activates
            their transcription. Once bound to the promoter, this complex
            associates with the non-DNA-binding factor MHC class II
            transactivator, which controls the cell type specificity and
            inducibility of MHC class II gene expression. Mutations in this
            gene have been linked to bare lymphocyte syndrome type II,
            complementation group D. Transcript variants utilizing different
            polyA signals have been found for this gene. [provided by RefSeq,
            Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2306
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.3"
     gene            1..2306
                     /gene="RFXAP"
                     /note="regulatory factor X associated protein"
                     /db_xref="GeneID:5994"
                     /db_xref="HGNC:HGNC:9988"
                     /db_xref="MIM:601861"
     misc_feature    80..82
                     /gene="RFXAP"
                     /note="upstream in-frame stop codon"
     CDS             137..955
                     /gene="RFXAP"
                     /note="RFX-associated protein; RFX DNA-binding complex 36
                     kDa subunit"
                     /codon_start=1
                     /product="regulatory factor X-associated protein"
                     /protein_id="NP_000529.1"
                     /db_xref="CCDS:CCDS9359.1"
                     /db_xref="GeneID:5994"
                     /db_xref="HGNC:HGNC:9988"
                     /db_xref="MIM:601861"
                     /translation="MEAQGVAEGAGPGAASGVPHPAALAPAAAPTLAPASVAAAASQFT
                     LLVMQPCAGQDEAAAPGGSVGAGKPVRYLCEGAGDGEEEAGEDEADLLDTSDPPGGGES
                     AASLEDLEDEETHSGGEGSSGGARRRGSGGGSMSKTCTYEGCSETTSQVAKQRKPWMCK
                     KHRNKMYKDKYKKKKSDQALNCGGTASTGSAGNVKLEESADNILSIVKQRTGSFGDRPA
                     RPTLLEQVLNQKRLSLLRSPEVVQFLQKQQQLLNQQVLEQRQQQFPGTSM"
     misc_feature    137..196
                     /gene="RFXAP"
                     /note="propagated from UniProtKB/Swiss-Prot (O00287.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    356..562
                     /gene="RFXAP"
                     /note="propagated from UniProtKB/Swiss-Prot (O00287.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    623..670
                     /gene="RFXAP"
                     /note="propagated from UniProtKB/Swiss-Prot (O00287.1);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     misc_feature    659..721
                     /gene="RFXAP"
                     /note="propagated from UniProtKB/Swiss-Prot (O00287.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    776..946
                     /gene="RFXAP"
                     /note="propagated from UniProtKB/Swiss-Prot (O00287.1);
                     Region: C-terminal domain"
     regulatory      2281..2286
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFXAP"
                     /note="hexamer: ATTAAA"
     polyA_site      2306
                     /gene="RFXAP"
                     /note="major polyA site"
ORIGIN
        1 aggcgcagtc ggggcgcctt cccggtatag gcgcctttta ccccagcgtg tcctgagtct
       61 ttggttcgcg aagtgccgtt aggccaagca ggtgctaaaa gcccggggtc gtggaccccg
      121 gccaggtctt agcagcatgg aggcgcaggg tgtagcggag ggcgcggggc cgggcgccgc
      181 cagcggcgtg ccccaccccg cggccctagc cccggctgcg gctcccacct tggcgccagc
      241 ctcggtggcg gccgcggcct ctcaattcac cctgctagtg atgcaaccct gtgctgggca
      301 ggacgaggct gcggcccccg ggggcagcgt tggggcgggc aagcccgtta ggtacctgtg
      361 cgaaggggcc ggggatggcg aagaggaggc tggggaggac gaggcggacc tgttagacac
      421 ttcggaccct ccggggggag gcgagagcgc ggctagtttg gaggatctag aggacgagga
      481 gactcactcg gggggcgagg gcagcagcgg gggcgcccgg aggcggggca gcggtggggg
      541 cagcatgagc aagacctgca cctacgaagg ctgcagcgag accacgagcc aggtggccaa
      601 gcagcgcaaa ccgtggatgt gcaagaaaca ccgcaacaag atgtacaagg acaagtataa
      661 aaagaagaag agcgaccagg ccctgaactg cggtgggact gcctcgactg gcagcgcggg
      721 aaacgtcaaa ctcgaggaaa gtgcagataa catactctcc attgttaaac aaagaacagg
      781 atcttttggg gatcgtcctg caagacctac tcttttagaa caagtgttaa atcaaaaaag
      841 actgtcgtta ctaagaagtc cagaagtagt gcaattttta cagaaacagc aacagctatt
      901 aaatcagcaa gttttggagc aaagacaaca gcagtttcca ggaacatcaa tgtgagggaa
      961 cttaccaaga acatctacat ggttttttat cttattgtaa tagatgagca tattttttta
     1021 ccagacataa atggggtaat aatctatgcc tgtagaacat aaacattttc ctgtaaatgt
     1081 atgtgtgcat ttggggataa gtaagtattg cactttgtgc atctaatctt tcagattact
     1141 gtgagtttga agaagtcagc ttatctttcc aaataacatt taattataat gttttttaaa
     1201 aaatatattc ctcttcagtc attgttactg aaggtaatga agcagttact ttctgtggaa
     1261 gtcataaagt taatagatat taatcttgac tcatctagct cagtggttct catcaagggt
     1321 caatttgatt gtcatagtga ccttgaaaac cactggcttt tagtgagtgg ccaggaatgc
     1381 taaatgttct gcagtgtcag gggtagtccc acatactaaa gattgtctca cccgcagtgc
     1441 caataacact cctaagaaat gttgatggct attttgtggt gctaacatgt agttggggca
     1501 cctataattg ggttctctta ataacctttc tttgcagtta agactgaagc tgtcaaagag
     1561 gtaagcacat tttatataga cgtaaggaaa gtgattattg tttaatatct gtgaatttag
     1621 gatgtgcatc tcttttcaga ggtgtgttag taaaacctga cggattaact aagcacactg
     1681 ggatgtgtct cctacagttg gcttctctct ttgatgttac ctgttagtgc tgatctctta
     1741 aagcagacat ttcttgtttg ttgaatttgt gaacagtata gatctcagcc caccaatgcc
     1801 aagacaaaat tatttttctt atacttattt tttattaaac aaaatgaaaa agatcctttt
     1861 caaaaaggtg atcctgaaaa taaaactaac actccagtat tttgtcattg tttttcgcaa
     1921 ttgagctatc tgaaaactgt tattcctaag taatgttcaa aaatgataag taatctggat
     1981 acctttttct tatactttct cctaggaaaa ctttaaaact ttaaaaaggc aaacctacca
     2041 ataggaataa caaattaaat gtcaagagag tatatccaat attaggatat aaatgtatgt
     2101 gtctcaagtt taactctaca aaaatttgtt acttgttttt taaactctat atataaagtt
     2161 cgacttaatc atggctgttc taagaagtac ttatggagag caagaacgtt tttgttcatt
     2221 tcttaatgtg tgtgttttta cttgcatatc tgttcaaaac acttttaaca aaattaattc
     2281 attaaagtcc agttgttgac ctttga
//
LOCUS       NM_000539               2768 bp    mRNA    linear   PRI 06-MAY-2023
DEFINITION  Homo sapiens rhodopsin (RHO), mRNA.
ACCESSION   NM_000539
VERSION     NM_000539.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2768)
  AUTHORS   Lally L, Narula N, Goodfellow N, Luqmani R, Pisapia D and Spiera RF.
  TITLE     Rho Kinase Expression in Giant Cell Arteritis: Validating
            Phosphorylated Ezrin/Radixin/Moesin Intensity Score to Increase
            Sensitivity of Temporal Artery Biopsy
  JOURNAL   J Rheumatol 49 (8), 908-912 (2022)
   PUBMED   35428710
  REMARK    GeneRIF: Rho Kinase Expression in Giant Cell Arteritis: Validating
            Phosphorylated Ezrin/Radixin/Moesin Intensity Score to Increase
            Sensitivity of Temporal Artery Biopsy.
REFERENCE   2  (bases 1 to 2768)
  AUTHORS   Picarazzi F, Manetti F, Marigo V and Mori M.
  TITLE     Conformational insights into the C-terminal mutations of human
            rhodopsin in retinitispigmentosa
  JOURNAL   J Mol Graph Model 110, 108076 (2022)
   PUBMED   34798368
  REMARK    GeneRIF: Conformational insights into the C-terminal mutations of
            human rhodopsin in retinitispigmentosa.
REFERENCE   3  (bases 1 to 2768)
  AUTHORS   Getter T, Kemp A, Vinberg F and Palczewski K.
  TITLE     Identification of small-molecule allosteric modulators that act as
            enhancers/disrupters of rhodopsin oligomerization
  JOURNAL   J Biol Chem 297 (6), 101401 (2021)
   PUBMED   34774799
  REMARK    GeneRIF: Identification of small-molecule allosteric modulators that
            act as enhancers/disrupters of rhodopsin oligomerization.
REFERENCE   4  (bases 1 to 2768)
  AUTHORS   Karnam PC, Vishnivetskiy SA and Gurevich VV.
  TITLE     Structural Basis of Arrestin Selectivity for Active Phosphorylated G
            Protein-Coupled Receptors
  JOURNAL   Int J Mol Sci 22 (22), 12481 (2021)
   PUBMED   34830362
  REMARK    GeneRIF: Structural Basis of Arrestin Selectivity for Active
            Phosphorylated G Protein-Coupled Receptors. Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2768)
  AUTHORS   Hollingsworth TJ, Hubbard MG, Levi HJ, White W, Wang X, Simpson R,
            Jablonski MM and Gross AK.
  TITLE     Proinflammatory Pathways Are Activated in the Human Q344X Rhodopsin
            Knock-In Mouse Model of Retinitis Pigmentosa
  JOURNAL   Biomolecules 11 (8), 1163 (2021)
   PUBMED   34439829
  REMARK    GeneRIF: Proinflammatory Pathways Are Activated in the Human Q344X
            Rhodopsin Knock-In Mouse Model of Retinitis Pigmentosa. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 2768)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
REFERENCE   7  (bases 1 to 2768)
  AUTHORS   Farrar GJ, Findlay JB, Kumar-Singh R, Kenna P, Humphries MM, Sharpe
            E and Humphries P.
  TITLE     Autosomal dominant retinitis pigmentosa: a novel mutation in the
            rhodopsin gene in the original 3q linked family
  JOURNAL   Hum Mol Genet 1 (9), 769-771 (1992)
   PUBMED   1302614
REFERENCE   8  (bases 1 to 2768)
  AUTHORS   Robinson PR, Cohen GB, Zhukovsky EA and Oprian DD.
  TITLE     Constitutively active mutants of rhodopsin
  JOURNAL   Neuron 9 (4), 719-725 (1992)
   PUBMED   1356370
REFERENCE   9  (bases 1 to 2768)
  AUTHORS   Fujiki K, Hotta Y, Hayakawa M, Sakuma H, Shiono T, Noro M, Sakuma T,
            Tamai M, Hikiji K, Kawaguchi R et al.
  TITLE     Point mutations of rhodopsin gene found in Japanese families with
            autosomal dominant retinitis pigmentosa (ADRP)
  JOURNAL   Jpn J Hum Genet 37 (2), 125-132 (1992)
   PUBMED   1391967
REFERENCE   10  (bases 1 to 2768)
  AUTHORS   Inglehearn CF, Keen TJ, Bashir R, Jay M, Fitzke F, Bird AC, Crombie
            A and Bhattacharya S.
  TITLE     A completed screen for mutations of the rhodopsin gene in a panel of
            patients with autosomal dominant retinitis pigmentosa
  JOURNAL   Hum Mol Genet 1 (1), 41-45 (1992)
   PUBMED   1301135
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX537381.1, BC112104.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA2142680, SAMEA2144333
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000296271.4/ ENSP00000296271.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC080007.26.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 13, 2008 this sequence version replaced NM_000539.2.
            Summary: The protein encoded by this gene is found in rod cells in
            the back of the eye and is essential for vision in low-light
            conditions. The encoded protein binds to 11-cis retinal and is
            activated when light hits the retinal molecule. Defects in this
            gene are a cause of congenital stationary night blindness.
            [provided by RefSeq, Aug 2017].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2768
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     gene            1..2768
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="rhodopsin"
                     /db_xref="GeneID:6010"
                     /db_xref="HGNC:HGNC:10012"
                     /db_xref="MIM:180380"
     misc_feature    30..32
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="upstream in-frame stop codon"
     CDS             96..1142
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="opsin 2, rod pigment; opsin-2"
                     /codon_start=1
                     /product="rhodopsin"
                     /protein_id="NP_000530.1"
                     /db_xref="CCDS:CCDS3063.1"
                     /db_xref="GeneID:6010"
                     /db_xref="HGNC:HGNC:10012"
                     /db_xref="MIM:180380"
                     /translation="MNGTEGPNFYVPFSNATGVVRSPFEYPQYYLAEPWQFSMLAAYMF
                     LLIVLGFPINFLTLYVTVQHKKLRTPLNYILLNLAVADLFMVLGGFTSTLYTSLHGYFV
                     FGPTGCNLEGFFATLGGEIALWSLVVLAIERYVVVCKPMSNFRFGENHAIMGVAFTWVM
                     ALACAAPPLAGWSRYIPEGLQCSCGIDYYTLKPEVNNESFVIYMFVVHFTIPMIIIFFC
                     YGQLVFTVKEAAAQQQESATTQKAEKEVTRMVIIMVIAFLICWVPYASVAFYIFTHQGS
                     NFGPIFMTIPAFFAKSAAIYNPVIYIMMNKQFRNCMLTTICCGKNPLGDDEASATVSKT
                     ETSQVAPA"
     misc_feature    96..98
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000250|UniProtKB:P02699; propagated from
                     UniProtKB/Swiss-Prot (P08100.1); acetylation site"
     misc_feature    99..101
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000250|UniProtKB:P02699; propagated from
                     UniProtKB/Swiss-Prot (P08100.1); glycosylation site"
     misc_feature    138..140
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28753425; propagated from
                     UniProtKB/Swiss-Prot (P08100.1); glycosylation site"
     misc_feature    204..278
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="propagated from UniProtKB/Swiss-Prot (P08100.1);
                     transmembrane region"
     misc_feature    315..383
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="propagated from UniProtKB/Swiss-Prot (P08100.1);
                     transmembrane region"
     misc_feature    426..494
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="propagated from UniProtKB/Swiss-Prot (P08100.1);
                     transmembrane region"
     misc_feature    432..434
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="Plays an important role in the conformation switch
                     to the active conformation.
                     /evidence=ECO:0000269|PubMed:26200343; propagated from
                     UniProtKB/Swiss-Prot (P08100.1); other site"
     misc_feature    495..503
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="propagated from UniProtKB/Swiss-Prot (P08100.1);
                     Region: 'Ionic lock' involved in activated form
                     stabilization. /evidence=ECO:0000305|PubMed:26200343"
     misc_feature    552..614
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="propagated from UniProtKB/Swiss-Prot (P08100.1);
                     transmembrane region"
     misc_feature    702..767
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="propagated from UniProtKB/Swiss-Prot (P08100.1);
                     transmembrane region"
     misc_feature    852..917
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="propagated from UniProtKB/Swiss-Prot (P08100.1);
                     transmembrane region"
     misc_feature    948..1022
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="propagated from UniProtKB/Swiss-Prot (P08100.1);
                     transmembrane region"
     misc_feature    1083..1139
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="propagated from UniProtKB/Swiss-Prot (P08100.1);
                     Region: Interaction with SAG.
                     /evidence=ECO:0000269|PubMed:26200343,
                     ECO:0000269|PubMed:28753425"
     misc_feature    1095..1097
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:28753425; propagated from
                     UniProtKB/Swiss-Prot (P08100.1); phosphorylation site"
     misc_feature    1101..1103
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:28753425; propagated from
                     UniProtKB/Swiss-Prot (P08100.1); phosphorylation site"
     misc_feature    1107..1109
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:28753425; propagated from
                     UniProtKB/Swiss-Prot (P08100.1); phosphorylation site"
     misc_feature    1113..1115
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P02699; propagated from
                     UniProtKB/Swiss-Prot (P08100.1); phosphorylation site"
     misc_feature    1119..1121
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P02699; propagated from
                     UniProtKB/Swiss-Prot (P08100.1); phosphorylation site"
     misc_feature    1122..1124
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P02699; propagated from
                     UniProtKB/Swiss-Prot (P08100.1); phosphorylation site"
     regulatory      1506..1511
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
     polyA_site      1530
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
     polyA_site      1786
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
     polyA_site      1835
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
     regulatory      2563..2568
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
     polyA_site      2593
                     /gene="RHO"
                     /gene_synonym="CSNBAD1; OPN2; RP4"
ORIGIN
        1 agagtcatcc agctggagcc ctgagtggct gagctcaggc cttcgcagca ttcttgggtg
       61 ggagcagcca cgggtcagcc acaagggcca cagccatgaa tggcacagaa ggccctaact
      121 tctacgtgcc cttctccaat gcgacgggtg tggtacgcag ccccttcgag tacccacagt
      181 actacctggc tgagccatgg cagttctcca tgctggccgc ctacatgttt ctgctgatcg
      241 tgctgggctt ccccatcaac ttcctcacgc tctacgtcac cgtccagcac aagaagctgc
      301 gcacgcctct caactacatc ctgctcaacc tagccgtggc tgacctcttc atggtcctag
      361 gtggcttcac cagcaccctc tacacctctc tgcatggata cttcgtcttc gggcccacag
      421 gatgcaattt ggagggcttc tttgccaccc tgggcggtga aattgccctg tggtccttgg
      481 tggtcctggc catcgagcgg tacgtggtgg tgtgtaagcc catgagcaac ttccgcttcg
      541 gggagaacca tgccatcatg ggcgttgcct tcacctgggt catggcgctg gcctgcgccg
      601 cacccccact cgccggctgg tccaggtaca tccccgaggg cctgcagtgc tcgtgtggaa
      661 tcgactacta cacgctcaag ccggaggtca acaacgagtc ttttgtcatc tacatgttcg
      721 tggtccactt caccatcccc atgattatca tctttttctg ctatgggcag ctcgtcttca
      781 ccgtcaagga ggccgctgcc cagcagcagg agtcagccac cacacagaag gcagagaagg
      841 aggtcacccg catggtcatc atcatggtca tcgctttcct gatctgctgg gtgccctacg
      901 ccagcgtggc attctacatc ttcacccacc agggctccaa cttcggtccc atcttcatga
      961 ccatcccagc gttctttgcc aagagcgccg ccatctacaa ccctgtcatc tatatcatga
     1021 tgaacaagca gttccggaac tgcatgctca ccaccatctg ctgcggcaag aacccactgg
     1081 gtgacgatga ggcctctgct accgtgtcca agacggagac gagccaggtg gccccggcct
     1141 aagacctgcc taggactctg tggccgacta taggcgtctc ccatccccta caccttcccc
     1201 cagccacagc catcccacca ggagcagcgc ctgtgcagaa tgaacgaagt cacataggct
     1261 ccttaatttt tttttttttt ttaagaaata attaatgagg ctcctcactc acctgggaca
     1321 gcctgagaag ggacatccac caagacctac tgatctggag tcccacgttc cccaaggcca
     1381 gcgggatgtg tgcccctcct cctcccaact catctttcag gaacacgagg attcttgctt
     1441 tctggaaaag tgtcccagct tagggataag tgtctagcac agaatggggc acacagtagg
     1501 tgcttaataa atgctggatg gatgcaggaa ggaatggagg aatgaatggg aagggagaac
     1561 atatctatcc tctcagaccc tcgcagcagc agcaactcat acttggctaa tgatatggag
     1621 cagttgtttt tccctccctg ggcctcactt tcttctccta taaaatggaa atcccagatc
     1681 cctggtcctg ccgacacgca gctactgaga agaccaaaag aggtgtgtgt gtgtctatgt
     1741 gtgtgtttca gcactttgta aatagcaaga agctgtacag attctagtta atgttgtgaa
     1801 taacatcaat taatgtaact agttaattac tatgattatc acctcctgat agtgaacatt
     1861 ttgagattgg gcattcagat gatggggttt cacccaacct tggggcaggt ttttaaaaat
     1921 tagctaggca tcaaggccag accagggctg ggggttgggc tgtaggcagg gacagtcaca
     1981 ggaatgcaga atgcagtcat cagacctgaa aaaacaacac tgggggaggg ggacggtgaa
     2041 ggccaagttc ccaatgaggg tgagattggg cctggggtct cacccctagt gtggggcccc
     2101 aggtcccgtg cctccccttc ccaatgtggc ctatggagag acaggccttt ctctcagcct
     2161 ctggaagcca cctgctcttt tgctctagca cctgggtccc agcatctaga gcatggagcc
     2221 tctagaagcc atgctcaccc gcccacattt aattaacagc tgagtccctg atgtcatcct
     2281 tatctcgaag agcttagaaa caaagagtgg gaaattccac tgggcctacc ttccttgggg
     2341 atgttcatgg gccccagttt ccagtttccc ttgccagaca agcccatctt cagcagttgc
     2401 tagtccattc tccattctgg agaatctgct ccaaaaagct ggccacatct ctgaggtgtc
     2461 agaattaagc tgcctcagta actgctcccc cttctccata taagcaaagc cagaagctct
     2521 agctttaccc agctctgcct ggagactaag gcaaattggg ccattaaaag ctcagctcct
     2581 atgttggtat taacggtggt gggttttgtt gctttcacac tctatccaca ggatagattg
     2641 aaactgccag cttccacctg atccctgacc ctgggatggc tggattgagc aatgagcaga
     2701 gccaagcagc acagagtccc ctggggctag aggtggagga ggcagtcctg ggaatgggaa
     2761 aaacccca
//
LOCUS       NM_000540              15400 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens ryanodine receptor 1 (RYR1), transcript variant 1,
            mRNA.
ACCESSION   NM_000540
VERSION     NM_000540.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 15400)
  AUTHORS   Guidarelli A, Spina A, Buffi G, Blandino G, Fiorani M and Cantoni O.
  TITLE     ERO1alpha primes the ryanodine receptor to respond to arsenite with
            concentration dependent Ca2+ release sequentially triggering two
            different mechanisms of ROS formation
  JOURNAL   Chem Biol Interact 383, 110694 (2023)
   PUBMED   37659621
  REMARK    GeneRIF: ERO1alpha primes the ryanodine receptor to respond to
            arsenite with concentration dependent Ca[2+] release sequentially
            triggering two different mechanisms of ROS formation.
REFERENCE   2  (bases 1 to 15400)
  AUTHORS   van den Bersselaar LR, van Alfen N, Kruijt N, Kamsteeg EJ,
            Fernandez-Garcia MA, Treves S, Riazi S, Yang CY, Malagon I, van Eijk
            LT, van Engelen BGM, Scheffer GJ, Jungbluth H, Snoeck MMJ and
            Voermans NC.
  TITLE     Muscle Ultrasound Abnormalities in Individuals with RYR1-Related
            Malignant Hyperthermia Susceptibility
  JOURNAL   J Neuromuscul Dis 10 (4), 541-554 (2023)
   PUBMED   37154182
  REMARK    GeneRIF: Muscle Ultrasound Abnormalities in Individuals with
            RYR1-Related Malignant Hyperthermia Susceptibility.
REFERENCE   3  (bases 1 to 15400)
  AUTHORS   Janssens L, De Puydt J, Milazzo M, Symoens S, De Bleecker JL and
            Herdewyn S.
  TITLE     Risk of malignant hyperthermia in patients carrying a variant in the
            skeletal muscle ryanodine receptor 1 gene
  JOURNAL   Neuromuscul Disord 32 (11-12), 864-869 (2022)
   PUBMED   36283893
  REMARK    GeneRIF: Risk of malignant hyperthermia in patients carrying a
            variant in the skeletal muscle ryanodine receptor 1 gene.
REFERENCE   4  (bases 1 to 15400)
  AUTHORS   Malicdan,M.C.V. and Nishino,I.
  TITLE     Central Core Disease - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301565
REFERENCE   5  (bases 1 to 15400)
  AUTHORS   Beggs,A.H. and Agrawal,P.B.
  TITLE     Multiminicore Disease - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301467
REFERENCE   6  (bases 1 to 15400)
  AUTHORS   DeChene,E.T., Kang,P.B. and Beggs,A.H.
  TITLE     Congenital Fiber-Type Disproportion - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301436
REFERENCE   7  (bases 1 to 15400)
  AUTHORS   Rosenberg,H., Sambuughin,N., Riazi,S. and Dirksen,R.
  TITLE     Malignant Hyperthermia Susceptibility
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301325
REFERENCE   8  (bases 1 to 15400)
  AUTHORS   Gillard EF, Otsu K, Fujii J, Duff C, de Leon S, Khanna VK, Britt BA,
            Worton RG and MacLennan DH.
  TITLE     Polymorphisms and deduced amino acid substitutions in the coding
            sequence of the ryanodine receptor (RYR1) gene in individuals with
            malignant hyperthermia
  JOURNAL   Genomics 13 (4), 1247-1254 (1992)
   PUBMED   1354642
REFERENCE   9  (bases 1 to 15400)
  AUTHORS   Otsu K, Phillips MS, Khanna VK, de Leon S and MacLennan DH.
  TITLE     Refinement of diagnostic assays for a probable causal mutation for
            porcine and human malignant hyperthermia
  JOURNAL   Genomics 13 (3), 835-837 (1992)
   PUBMED   1639409
REFERENCE   10  (bases 1 to 15400)
  AUTHORS   Jayaraman T, Brillantes AM, Timerman AP, Fleischer S,
            Erdjument-Bromage H, Tempst P and Marks AR.
  TITLE     FK506 binding protein associated with the calcium release channel
            (ryanodine receptor)
  JOURNAL   J Biol Chem 267 (14), 9474-9477 (1992)
   PUBMED   1374404
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2158800,
            SAMEA2162946 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359596.8/ ENSP00000352608.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011469.6, AC067969.1 and
            AC005933.1.
            On Aug 31, 2019 this sequence version replaced NM_000540.2.
            Summary: This gene encodes a ryanodine receptor found in skeletal
            muscle. The encoded protein functions as a calcium release channel
            in the sarcoplasmic reticulum but also serves to connect the
            sarcoplasmic reticulum and transverse tubule. Mutations in this
            gene are associated with malignant hyperthermia susceptibility,
            central core disease, and minicore myopathy with external
            ophthalmoplegia. Alternatively spliced transcripts encoding
            different isoforms have been described. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..15400
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..15400
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="ryanodine receptor 1"
                     /db_xref="GeneID:6261"
                     /db_xref="HGNC:HGNC:10483"
                     /db_xref="MIM:180901"
     CDS             140..15256
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sarcoplasmic reticulum calcium release channel; central
                     core disease of muscle; protein phosphatase 1, regulatory
                     subunit 137; skeletal muscle ryanodine receptor; type
                     1-like ryanodine receptor; skeletal muscle calcium release
                     channel; ryanodine receptor 1 (skeletal)"
                     /codon_start=1
                     /product="ryanodine receptor 1 isoform 1"
                     /protein_id="NP_000531.2"
                     /db_xref="CCDS:CCDS33011.1"
                     /db_xref="GeneID:6261"
                     /db_xref="HGNC:HGNC:10483"
                     /db_xref="MIM:180901"
                     /translation="MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLCLAAEGFGNRL
                     CFLEPTSNAQNVPPDLAICCFVLEQSLSVRALQEMLANTVEAGVESSQGGGHRTLLYGH
                     AILLRHAHSRMYLSCLTTSRSMTDKLAFDVGLQEDATGEACWWTMHPASKQRSEGEKVR
                     VGDDIILVSVSSERYLHLSTASGELQVDASFMQTLWNMNPICSRCEEGFVTGGHVLRLF
                     HGHMDECLTISPADSDDQRRLVYYEGGAVCTHARSLWRLEPLRISWSGSHLRWGQPLRV
                     RHVTTGQYLALTEDQGLVVVDASKAHTKATSFCFRISKEKLDVAPKRDVEGMGPPEIKY
                     GESLCFVQHVASGLWLTYAAPDPKALRLGVLKKKAMLHQEGHMDDALSLTRCQQEESQA
                     ARMIHSTNGLYNQFIKSLDSFSGKPRGSGPPAGTALPIEGVILSLQDLIIYFEPPSEDL
                     QHEEKQSKLRSLRNRQSLFQEEGMLSMVLNCIDRLNVYTTAAHFAEFAGEEAAESWKEI
                     VNLLYELLASLIRGNRSNCALFSTNLDWLVSKLDRLEASSGILEVLYCVLIESPEVLNI
                     IQENHIKSIISLLDKHGRNHKVLDVLCSLCVCNGVAVRSNQDLITENLLPGRELLLQTN
                     LINYVTSIRPNIFVGRAEGTTQYSKWYFEVMVDEVTPFLTAQATHLRVGWALTEGYTPY
                     PGAGEGWGGNGVGDDLYSYGFDGLHLWTGHVARPVTSPGQHLLAPEDVISCCLDLSVPS
                     ISFRINGCPVQGVFESFNLDGLFFPVVSFSAGVKVRFLLGGRHGEFKFLPPPGYAPCHE
                     AVLPRERLHLEPIKEYRREGPRGPHLVGPSRCLSHTDFVPCPVDTVQIVLPPHLERIRE
                     KLAENIHELWALTRIEQGWTYGPVRDDNKRLHPCLVDFHSLPEPERNYNLQMSGETLKT
                     LLALGCHVGMADEKAEDNLKKTKLPKTYMMSNGYKPAPLDLSHVRLTPAQTTLVDRLAE
                     NGHNVWARDRVGQGWSYSAVQDIPARRNPRLVPYRLLDEATKRSNRDSLCQAVRTLLGY
                     GYNIEPPDQEPSQVENQSRCDRVRIFRAEKSYTVQSGRWYFEFEAVTTGEMRVGWARPE
                     LRPDVELGADELAYVFNGHRGQRWHLGSEPFGRPWQPGDVVGCMIDLTENTIIFTLNGE
                     VLMSDSGSETAFREIEIGDGFLPVCSLGPGQVGHLNLGQDVSSLRFFAICGLQEGFEPF
                     AINMQRPVTTWFSKGLPQFEPVPLEHPHYEVSRVDGTVDTPPCLRLTHRTWGSQNSLVE
                     MLFLRLSLPVQFHQHFRCTAGATPLAPPGLQPPAEDEARAAEPDPDYENLRRSAGGWSE
                     AENGKEGTAKEGAPGGTPQAGGEAQPARAENEKDATTEKNKKRGFLFKAKKVAMMTQPP
                     ATPTLPRLPHDVVPADNRDDPEIILNTTTYYYSVRVFAGQEPSCVWAGWVTPDYHQHDM
                     SFDLSKVRVVTVTMGDEQGNVHSSLKCSNCYMVWGGDFVSPGQQGRISHTDLVIGCLVD
                     LATGLMTFTANGKESNTFFQVEPNTKLFPAVFVLPTHQNVIQFELGKQKNIMPLSAAMF
                     QSERKNPAPQCPPRLEMQMLMPVSWSRMPNHFLQVETRRAGERLGWAVQCQEPLTMMAL
                     HIPEENRCMDILELSERLDLQRFHSHTLRLYRAVCALGNNRVAHALCSHVDQAQLLHAL
                     EDAHLPGPLRAGYYDLLISIHLESACRSRRSMLSEYIVPLTPETRAITLFPPGRSTENG
                     HPRHGLPGVGVTTSLRPPHHFSPPCFVAALPAAGAAEAPARLSPAIPLEALRDKALRML
                     GEAVRDGGQHARDPVGGSVEFQFVPVLKLVSTLLVMGIFGDEDVKQILKMIEPEVFTEE
                     EEEEDEEEEGEEEDEEEKEEDEEETAQEKEDEEKEEEEAAEGEKEEGLEEGLLQMKLPE
                     SVKLQMCHLLEYFCDQELQHRVESLAAFAERYVDKLQANQRSRYGLLIKAFSMTAAETA
                     RRTREFRSPPQEQINMLLQFKDGTDEEDCPLPEEIRQDLLDFHQDLLAHCGIQLDGEEE
                     EPEEETTLGSRLMSLLEKVRLVKKKEEKPEEERSAEESKPRSLQELVSHMVVRWAQEDF
                     VQSPELVRAMFSLLHRQYDGLGELLRALPRAYTISPSSVEDTMSLLECLGQIRSLLIVQ
                     MGPQEENLMIQSIGNIMNNKVFYQHPNLMRALGMHETVMEVMVNVLGGGESKEIRFPKM
                     VTSCCRFLCYFCRISRQNQRSMFDHLSYLLENSGIGLGMQGSTPLDVAAASVIDNNELA
                     LALQEQDLEKVVSYLAGCGLQSCPMLVAKGYPDIGWNPCGGERYLDFLRFAVFVNGESV
                     EENANVVVRLLIRKPECFGPALRGEGGSGLLAAIEEAIRISEDPARDGPGIRRDRRREH
                     FGEEPPEENRVHLGHAIMSFYAALIDLLGRCAPEMHLIQAGKGEALRIRAILRSLVPLE
                     DLVGIISLPLQIPTLGKDGALVQPKMSASFVPDHKASMVLFLDRVYGIENQDFLLHVLD
                     VGFLPDMRAAASLDTATFSTTEMALALNRYLCLAVLPLITKCAPLFAGTEHRAIMVDSM
                     LHTVYRLSRGRSLTKAQRDVIEDCLMSLCRYIRPSMLQHLLRRLVFDVPILNEFAKMPL
                     KLLTNHYERCWKYYCLPTGWANFGVTSEEELHLTRKLFWGIFDSLAHKKYDPELYRMAM
                     PCLCAIAGALPPDYVDASYSSKAEKKATVDAEGNFDPRPVETLNVIIPEKLDSFINKFA
                     EYTHEKWAFDKIQNNWSYGENIDEELKTHPMLRPYKTFSEKDKEIYRWPIKESLKAMIA
                     WEWTIEKAREGEEEKTEKKKTRKISQSAQTYDPREGYNPQPPDLSAVTLSRELQAMAEQ
                     LAENYHNTWGRKKKQELEAKGGGTHPLLVPYDTLTAKEKARDREKAQELLKFLQMNGYA
                     VTRGLKDMELDSSSIEKRFAFGFLQQLLRWMDISQEFIAHLEAVVSSGRVEKSPHEQEI
                     KFFAKILLPLINQYFTNHCLYFLSTPAKVLGSGGHASNKEKEMITSLFCKLAALVRHRV
                     SLFGTDAPAVVNCLHILARSLDARTVMKSGPEIVKAGLRSFFESASEDIEKMVENLRLG
                     KVSQARTQVKGVGQNLTYTTVALLPVLTTLFQHIAQHQFGDDVILDDVQVSCYRTLCSI
                     YSLGTTKNTYVEKLRPALGECLARLAAAMPVAFLEPQLNEYNACSVYTTKSPRERAILG
                     LPNSVEEMCPDIPVLERLMADIGGLAESGARYTEMPHVIEITLPMLCSYLPRWWERGPE
                     APPSALPAGAPPPCTAVTSDHLNSLLGNILRIIVNNLGIDEASWMKRLAVFAQPIVSRA
                     RPELLQSHFIPTIGRLRKRAGKVVSEEEQLRLEAKAEAQEGELLVRDEFSVLCRDLYAL
                     YPLLIRYVDNNRAQWLTEPNPSAEELFRMVGEIFIYWSKSHNFKREEQNFVVQNEINNM
                     SFLTADNKSKMAKAGDIQSGGSDQERTKKKRRGDRYSVQTSLIVATLKKMLPIGLNMCA
                     PTDQDLITLAKTRYALKDTDEEVREFLHNNLHLQGKVEGSPSLRWQMALYRGVPGREED
                     ADDPEKIVRRVQEVSAVLYYLDQTEHPYKSKKAVWHKLLSKQRRRAVVACFRMTPLYNL
                     PTHRACNMFLESYKAAWILTEDHSFEDRMIDDLSKAGEQEEEEEEVEEKKPDPLHQLVL
                     HFSRTALTEKSKLDEDYLYMAYADIMAKSCHLEEGGENGEAEEEVEVSFEEKQMEKQRL
                     LYQQARLHTRGAAEMVLQMISACKGETGAMVSSTLKLGISILNGGNAEVQQKMLDYLKD
                     KKEVGFFQSIQALMQTCSVLDLNAFERQNKAEGLGMVNEDGTVINRQNGEKVMADDEFT
                     QDLFRFLQLLCEGHNNDFQNYLRTQTGNTTTINIIICTVDYLLRLQESISDFYWYYSGK
                     DVIEEQGKRNFSKAMSVAKQVFNSLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHM
                     MMKLAQDSSQIELLKELLDLQKDMVVMLLSLLEGNVVNGMIARQMVDMLVESSSNVEMI
                     LKFFDMFLKLKDIVGSEAFQDYVTDPRGLISKKDFQKAMDSQKQFSGPEIQFLLSCSEA
                     DENEMINCEEFANRFQEPARDIGFNVAVLLTNLSEHVPHDPRLHNFLELAESILEYFRP
                     YLGRIEIMGASRRIERIYFEISETNRAQWEMPQVKESKRQFIFDVVNEGGEAEKMELFV
                     SFCEDTIFEMQIAAQISEPEGEPETDEDEGAGAAEAGAEGAEEGAAGLEGTAATAAAGA
                     TARVVAAAGRALRGLSYRSLRRRVRRLRRLTAREAATAVAALLWAAVTRAGAAGAGAAA
                     GALGLLWGSLFGGGLVEGAKKVTVTELLAGMPDPTSDEVHGEQPAGPGGDADGEGASEG
                     AGDAAEGAGDEEEAVHEAGPGGADGAVAVTDGGPFRPEGAGGLGDMGDTTPAEPPTPEG
                     SPILKRKLGVDGVEEELPPEPEPEPEPELEPEKADAENGEKEEVPEPTPEPPKKQAPPS
                     PPPKKEEAGGEFWGELEVQRVKFLNYLSRNFYTLRFLALFLAFAINFILLFYKVSDSPP
                     GEDDMEGSAAGDVSGAGSGGSSGWGLGAGEEAEGDEDENMVYYFLEESTGYMEPALRCL
                     SLLHTLVAFLCIIGYNCLKVPLVIFKREKELARKLEFDGLYITEQPEDDDVKGQWDRLV
                     LNTPSFPSNYWDKFVKRKVLDKHGDIYGRERIAELLGMDLATLEITAHNERKPNPPPGL
                     LTWLMSIDVKYQIWKFGVIFTDNSFLYLGWYMVMSLLGHYNNFFFAAHLLDIAMGVKTL
                     RTILSSVTHNGKQLVMTVGLLAVVVYLYTVVAFNFFRKFYNKSEDEDEPDMKCDDMMTC
                     YLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVFDITFFFFVIVILLAIIQGLIIDAFG
                     ELRDQQEQVKEDMETKCFICGIGSDYFDTTPHGFETHTLEEHNLANYMFFLMYLINKDE
                     TEHTGQESYVWKMYQERCWDFFPAGDCFRKQYEDQLS"
     misc_feature    2144..2179
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     Region: Interaction with FKBP1A.
                     /evidence=ECO:0000250|UniProtKB:P11716"
     misc_feature    2660..9016
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     Region: 6 X approximate repeats"
     misc_feature    4058..4294
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4148..4150
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:F1LMY4; propagated from
                     UniProtKB/Swiss-Prot (P21817.3); phosphorylation site"
     misc_feature    5738..5908
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    7172..7174
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:F1LMY4; propagated from
                     UniProtKB/Swiss-Prot (P21817.3); phosphorylation site"
     misc_feature    7310..7375
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    8621..8713
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    8666..8668
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="Phosphoserine, by PKA and PKG.
                     /evidence=ECO:0000250|UniProtKB:E9PZQ0; propagated from
                     UniProtKB/Swiss-Prot (P21817.3); phosphorylation site"
     misc_feature    10571..10642
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    10979..11068
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     Region: Interaction with CALM.
                     /evidence=ECO:0000269|PubMed:18650434"
     misc_feature    12890..12979
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    13283..13753
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    13538..13540
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:F1LMY4; propagated from
                     UniProtKB/Swiss-Prot (P21817.3); phosphorylation site"
     misc_feature    13550..13552
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:F1LMY4; propagated from
                     UniProtKB/Swiss-Prot (P21817.3); phosphorylation site"
     misc_feature    13817..13879
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     transmembrane region"
     misc_feature    13904..14002
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    14063..14125
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     transmembrane region"
     misc_feature    14480..14548
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     transmembrane region"
     misc_feature    14552..14602
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     transmembrane region"
     misc_feature    14648..14710
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     transmembrane region"
     misc_feature    14729..14731
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:18318008; propagated from
                     UniProtKB/Swiss-Prot (P21817.3); phosphorylation site"
     misc_feature    14738..14740
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18318008; propagated from
                     UniProtKB/Swiss-Prot (P21817.3); phosphorylation site"
     misc_feature    14822..14842
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     Region: Selectivity filter.
                     /evidence=ECO:0000250|UniProtKB:P11716"
     misc_feature    14900..14962
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21817.3);
                     transmembrane region"
     regulatory      15374..15379
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="hexamer: AATAAA"
     polyA_site      15400
                     /gene="RYR1"
                     /gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
                     PPP1R137; RYDR; RYR; RYR-1; SKRR"
                     /note="major polyA site"
ORIGIN
        1 gcagttccat ctacctcgcg ggtgcctctg gtgtctccag aggtctccga ccccagcccg
       61 cccccagccc tcccgcccag cccgcagccc cctccctctg ttccccgacc tcagaccctg
      121 ggcttccgac ctcgacatca tgggtgacgc agaaggcgaa gacgaggtcc agttcctgcg
      181 gacggacgat gaggtggtcc tgcagtgcag cgctaccgtg ctcaaggagc agctcaagct
      241 ctgcctggcc gccgagggct tcggcaaccg cctgtgcttc ctggagccca ctagcaacgc
      301 gcagaatgtg ccccccgatc tggccatctg ttgcttcgtc ctggagcagt ccctgtctgt
      361 gcgagccctg caggagatgc tggctaacac ggtggaggct ggcgtggagt catcccaggg
      421 cgggggacac aggacgctcc tgtatggcca tgccatcctg ctccggcatg cacacagccg
      481 catgtatctg agctgcctca ccacctcccg ctccatgact gacaagctgg ccttcgatgt
      541 gggactgcag gaggacgcaa caggagaggc ttgctggtgg accatgcacc cagcctccaa
      601 gcagaggtct gaaggagaaa aggtccgcgt tggggatgac atcatccttg tcagtgtctc
      661 ctccgagcgc tacctgcacc tgtcgaccgc cagtggggag ctccaggttg acgcttcctt
      721 catgcagaca ctatggaaca tgaaccccat ctgctcccgc tgcgaagagg gcttcgtgac
      781 gggaggtcac gtcctccgcc tctttcatgg acatatggat gagtgtctga ccatttcccc
      841 tgctgacagt gatgaccagc gcagacttgt ctactatgag gggggagctg tgtgcactca
      901 tgcccgctcc ctctggaggc tggagccact gagaatcagc tggagtggga gccacctgcg
      961 ctggggccag ccactccgag tccggcatgt cactaccggg cagtacctag cgctcaccga
     1021 ggaccagggc ctggtggtgg ttgacgccag caaggctcac accaaggcta cctccttctg
     1081 cttccgcatc tccaaggaga agctggatgt ggcccccaag cgggatgtgg agggcatggg
     1141 cccccctgag atcaagtacg gggagtcact gtgcttcgtg cagcatgtgg cctcaggact
     1201 gtggctcacc tatgctgctc cagaccccaa ggccctgcgg ctcggcgtgc tcaagaagaa
     1261 ggccatgctg caccaggagg gccacatgga cgacgcactg tcgctgaccc gctgccagca
     1321 ggaggagtcc caggccgccc gcatgatcca cagcaccaat ggcctataca accagttcat
     1381 caagagcctg gacagcttca gcgggaagcc acggggctcg gggccacccg ctggcacggc
     1441 gctgcccatc gagggcgtta tcctgagcct gcaggacctc atcatctact tcgagcctcc
     1501 ctccgaggac ttgcagcacg aggagaagca gagcaagctg cgaagcctgc gcaaccgcca
     1561 gagcctcttc caggaggagg ggatgctctc catggtcctg aattgcatag accgcctaaa
     1621 tgtctacacc actgctgccc actttgctga gtttgcaggg gaggaggcag ccgagtcctg
     1681 gaaagagatt gtgaatcttc tctatgaact cctagcttct ctaatccgtg gcaatcgtag
     1741 caactgtgcc ctcttctcca caaacttgga ctggctggtc agcaagctgg atcggctgga
     1801 ggcctcgtct ggcatcctgg aggtcctgta ctgtgtcctc attgagagtc cagaggttct
     1861 gaacatcatc caggagaatc acatcaagtc catcatctcc ctcctggaca agcatgggag
     1921 gaaccacaag gtcctggacg tgctatgctc cctgtgtgtg tgtaatggtg tggctgtacg
     1981 ctccaaccaa gatcttatta ctgagaactt gctgcctggc cgtgagcttc tgctgcagac
     2041 aaacctcatc aactatgtca ccagcatccg ccccaacatc tttgtgggcc gagcggaagg
     2101 caccacgcag tacagcaaat ggtactttga ggtgatggtg gacgaggtga ctccatttct
     2161 gacagctcag gccacccact tgcgggtggg ctgggccctc accgagggct acacccccta
     2221 ccctggggcc ggcgagggct ggggcggcaa cggggtcggc gatgacctct attcctacgg
     2281 ctttgatgga ctgcatctct ggacaggaca cgtggcacgc ccagtgactt ccccagggca
     2341 gcacctcctg gcccctgaag acgtgatcag ctgctgcctg gacctcagcg tgccgtccat
     2401 ctccttccgc atcaacggct gccccgtgca gggtgtcttt gagtccttca acctggacgg
     2461 gctcttcttc cctgttgtca gcttctcggc tggtgtcaag gtgcggttcc tccttggtgg
     2521 ccgccatggt gaattcaagt tcctgccccc acctggctat gctccatgcc atgaggctgt
     2581 gctccctcga gagcgactcc atcttgaacc catcaaggag tatcgacggg aggggccccg
     2641 ggggcctcac ctggtgggcc ccagtcgctg cctctcacac accgacttcg tgccctgccc
     2701 tgtggacact gtccagattg tcctgccgcc ccatctggag cgcattcggg agaagctggc
     2761 ggagaacatc cacgagctct gggcgctaac ccgcatcgag cagggctgga cctacggccc
     2821 ggttcgggat gacaacaaga ggctgcaccc gtgtcttgtg gacttccaca gccttccaga
     2881 gcctgagagg aactacaacc tgcagatgtc tggggagacg ctcaagactc tgctggctct
     2941 gggctgccac gtgggcatgg cggatgagaa ggcggaggac aacctgaaga agacaaaact
     3001 ccccaagacg tatatgatga gcaatgggta caagccggct ccgctggacc tgagccacgt
     3061 gcggctgacg ccggcgcaga cgacactggt ggaccgtctg gcagaaaatg ggcacaacgt
     3121 gtgggcccga gaccgcgtgg gccagggctg gagctacagc gcagtgcagg acatcccagc
     3181 gcgccgaaac cctcggctgg tgccctaccg cctgctggat gaagccacca agcgcagcaa
     3241 ccgggacagc ctctgccagg ccgtgcgcac cctcctgggc tacggctaca acatcgagcc
     3301 tcctgaccag gagcccagtc aggtggagaa ccagtctcgt tgtgaccggg tgcgcatctt
     3361 ccgggcagag aaatcctata cagtgcagag cggccgctgg tacttcgagt ttgaagcagt
     3421 caccacaggc gagatgcgcg tgggctgggc gaggcccgag ctgaggcctg atgtagagct
     3481 gggagctgac gagctggcct atgtcttcaa tgggcaccgc ggccagcgct ggcacttggg
     3541 cagtgaacca tttgggcgcc cctggcagcc gggcgatgtc gttggctgta tgatcgacct
     3601 cacagagaac accattatct tcaccctcaa tggcgaggtc ctcatgtctg actcaggctc
     3661 cgaaacagcc ttccgggaga ttgagattgg ggacggcttc ctgcccgtct gcagcttggg
     3721 acctggccag gtgggtcatc tgaacctggg ccaggacgtg agctctctga ggttctttgc
     3781 catctgtggc ctccaggaag gcttcgagcc atttgccatc aacatgcagc gcccagtcac
     3841 cacctggttc agcaaaggcc tgccccagtt tgagccagtg ccccttgaac accctcacta
     3901 tgaggtatcc cgagtggacg gcactgtgga cacgcccccc tgcctgcgcc tgacccaccg
     3961 cacctggggc tcccagaaca gcctggtgga gatgcttttc ctgcggctga gcctcccagt
     4021 ccagttccac cagcacttcc gctgcactgc aggggccacc ccgctggcac ctcctggcct
     4081 gcagcccccc gccgaggacg aggcccgggc ggcggaaccc gaccctgact acgaaaacct
     4141 gcgccgctca gctgggggct ggagcgaggc agagaacggc aaagaaggga ctgcgaagga
     4201 gggcgccccc gggggcaccc cgcaggcggg gggagaggcg cagcccgcca gggcggagaa
     4261 tgagaaggat gccaccaccg agaagaacaa gaagagaggc ttcttattca aggccaagaa
     4321 ggtcgccatg atgacccagc caccggccac ccccacgctg ccccgactcc ctcacgacgt
     4381 ggtgcctgca gacaaccgcg atgaccccga gatcatcctc aacaccacca cgtactatta
     4441 ctccgtgagg gtctttgctg gacaggagcc cagctgcgtg tgggcgggct gggtcacccc
     4501 tgactaccat cagcacgaca tgagcttcga cctcagcaag gtccgggtcg tgacggtgac
     4561 catgggggat gaacaaggca acgtccacag cagcctcaag tgtagcaact gctacatggt
     4621 gtggggcgga gactttgtga gtcccgggca gcagggccgg atcagccaca cggaccttgt
     4681 cattgggtgc ctggtggact tggccactgg cttaatgacc tttacagcca atggcaaaga
     4741 gagcaacacc tttttccagg tggaacccaa cactaagcta tttcctgccg tcttcgtcct
     4801 gcccacccac cagaacgtca tccagtttga gctggggaag cagaagaaca tcatgccgtt
     4861 gtcagccgcc atgttccaaa gcgagcgcaa gaacccggcc ccgcagtgcc caccgcggct
     4921 ggagatgcag atgctgatgc cagtgtcctg gagccgcatg cccaaccact tcctgcaggt
     4981 ggagacgagg cgtgccggcg agcggctggg ctgggccgtg cagtgccagg agccgctgac
     5041 catgatggcg ctgcacatcc ccgaggagaa ccggtgcatg gacatcctgg agctgtcgga
     5101 gcgcctggac ctgcagcgct tccactcgca caccctgcgc ctctaccgcg ctgtgtgcgc
     5161 cctgggcaac aatcgcgtgg cgcacgctct gtgcagccac gtagaccaag ctcagctgct
     5221 gcacgccctg gaggacgcgc acctgccagg cccactgcgc gcaggctact atgacctcct
     5281 catcagcatc cacctcgaaa gtgcctgccg cagccgccgc tccatgctct ctgaatacat
     5341 cgtgcccctc acgcctgaga cccgcgccat cacgctcttc cctcctggaa ggagcacaga
     5401 aaatggtcac ccccggcatg gcctgccggg agttggagtc accacttcgc tgaggccccc
     5461 gcatcatttc tcgcccccct gtttcgtggc cgctctgcca gctgctgggg cagcagaggc
     5521 cccggcccgc ctcagccctg ccatcccgct ggaggccctg cgggacaagg cactgaggat
     5581 gctgggggag gcggtgcgcg acggtgggca gcacgctcgc gaccccgtcg ggggctccgt
     5641 ggagttccag tttgtgcctg tgctcaagct cgtgtccacc ctgctggtga tgggcatctt
     5701 tggcgatgag gatgtgaaac agatcttgaa gatgattgag cctgaggtct tcactgagga
     5761 agaagaggag gaggacgagg aggaagaggg tgaagaggaa gatgaggagg agaaggagga
     5821 ggatgaggag gaaacagcac aggaaaagga agatgaggaa aaagaggaag aggaggcagc
     5881 agaaggggag aaagaagaag gcttggagga agggctgctc cagatgaagt tgccagagtc
     5941 tgtgaagtta cagatgtgcc acctgctgga gtatttctgt gaccaagagc tgcagcaccg
     6001 tgtggagtcc ctggcagcct ttgcggagcg ctatgtggac aagctccagg ccaaccagcg
     6061 gagccgctat ggcctcctca taaaagcctt cagcatgacc gcagcagaga ctgcaagacg
     6121 tacccgcgag ttccgctccc caccccagga acagatcaat atgctattgc aattcaaaga
     6181 tggtacagat gaggaagact gtcctctccc tgaagagatt cgacaggatt tgcttgactt
     6241 tcatcaagac ctgctggcac actgtggaat tcagctagat ggagaggagg aggaaccaga
     6301 ggaagagacc accctgggca gccgcctcat gagcctgttg gagaaagtgc ggctggtgaa
     6361 gaagaaggaa gagaaacctg aggaggagcg gtcagcagag gagagcaaac cccggtccct
     6421 gcaggagctg gtgtcccaca tggtggtgcg ctgggcccaa gaggacttcg tgcagagccc
     6481 cgagctggtg cgggccatgt tcagcctcct gcaccggcag tacgacgggc tgggtgagct
     6541 gctgcgtgcc ctgccgcggg cgtacaccat ctcaccgtcc tccgtggaag acaccatgag
     6601 cctgctcgag tgcctcggcc agatccgctc gctgctcatc gtgcagatgg gcccccagga
     6661 ggagaacctc atgatccaga gcatcgggaa catcatgaac aacaaagtct tctaccaaca
     6721 cccgaacctg atgagggcgc tgggcatgca cgagacggtc atggaggtca tggtcaacgt
     6781 cctcgggggc ggcgagtcca aggagatccg cttccccaag atggtgacaa gctgctgccg
     6841 cttcctctgc tatttctgcc gaatcagccg gcagaaccag cgctccatgt ttgaccacct
     6901 gagctacctg ctggagaaca gtggcatcgg cctgggcatg cagggctcca cgcccctgga
     6961 cgtggctgct gcctccgtca ttgacaacaa tgagctggcc ttggcattgc aggagcagga
     7021 cctggaaaag gttgtgtcct acctggcagg ctgtggcctc cagagctgcc ccatgcttgt
     7081 ggccaaaggg tacccagaca ttggctggaa cccctgtggt ggagagcgct acctggactt
     7141 cctgcgcttt gctgtcttcg tcaacggcga gagcgtggag gagaacgcca atgtggtggt
     7201 gcggctgctc atccggaagc ctgagtgctt cggacccgcc ctgcggggtg agggtggctc
     7261 agggctgctg gctgccatcg aagaggccat ccgcatctcc gaggaccctg cgagggatgg
     7321 cccaggcatc cgcagggacc ggcggcgcga gcactttggt gaggaaccgc ctgaagaaaa
     7381 ccgggtgcac ctgggacacg ccatcatgtc cttctatgcc gccttgatcg acctgctcgg
     7441 acgctgtgca ccagagatgc atctaatcca agccggcaag ggtgaggccc tgcggatccg
     7501 cgccatcctc cgctcccttg tgcccttgga ggaccttgtg ggcatcatca gcctcccact
     7561 gcagattccc accctgggca aagatggggc tctggtgcag ccaaagatgt cagcatcctt
     7621 cgtgccggac cacaaggcgt ccatggtgct cttcctggac cgtgtgtatg gcatcgagaa
     7681 ccaggacttc ttgctgcacg tgctggacgt ggggttcctg cccgacatga gggcagccgc
     7741 ctcgctggac acggccactt tcagcaccac cgagatggcg ctggcgctga accgctacct
     7801 gtgcctggcc gtgctgccgc tcatcaccaa gtgtgcgccg ctctttgcgg gcacagaaca
     7861 ccgcgccatc atggtggact ctatgctgca taccgtgtac cgcctgtctc ggggtcgttc
     7921 gctcaccaag gcgcagcgtg acgtcatcga ggactgcctc atgtcgctct gcaggtacat
     7981 ccgcccgtcg atgctgcagc acctgttgcg ccgcctggtg ttcgacgtgc ccatcctcaa
     8041 cgagttcgcc aagatgccac tcaagctcct caccaaccac tatgagcgct gttggaagta
     8101 ctactgccta cccacgggct gggccaactt cggggtcacc tcagaggagg agctgcacct
     8161 cacacggaaa ctcttctggg gcatctttga ctctctggcc cataagaaat acgacccgga
     8221 gctgtaccgc atggccatgc cttgtctgtg cgccattgcc ggggctctgc cccccgacta
     8281 tgtggatgcc tcatactcat ctaaggcaga gaaaaaggcc acagtggatg ctgaaggcaa
     8341 ctttgatccc cggcctgtgg agaccctcaa tgtgatcatc ccggagaagc tggactcctt
     8401 cattaacaag tttgcggagt acacacacga gaagtgggcc ttcgacaaga tccagaacaa
     8461 ctggtcctat ggagagaaca tagacgagga gctgaagacc caccccatgc tgaggcccta
     8521 caagaccttt tcagagaagg acaaagagat ttaccgctgg cccatcaagg agtccctgaa
     8581 ggccatgatt gcctgggaat ggacgataga gaaggccagg gagggtgagg aggagaagac
     8641 ggaaaagaaa aaaacgcgga agatatcaca aagtgcccag acctatgatc ctcgagaagg
     8701 ctacaaccct cagccccccg accttagtgc tgttaccctg tcccgggagc tgcaggccat
     8761 ggcagaacaa ctggcagaaa attaccacaa cacgtgggga cggaagaaga agcaggagct
     8821 ggaagccaaa ggcggtggga cccaccccct gctggtcccc tacgacacgc tcacggccaa
     8881 ggagaaggca cgagatcgag agaaggccca ggagctactg aaattcctgc agatgaatgg
     8941 ctacgcggtt acaagaggcc ttaaggacat ggaactggac tcgtcttcca ttgaaaagcg
     9001 gtttgccttt ggcttcctgc agcagctgct gcgctggatg gacatttctc aggagttcat
     9061 tgcccacctg gaggctgtgg tcagcagtgg gcgagtggaa aagtccccac atgaacagga
     9121 gattaaattc tttgccaaga tcctgctccc tttgatcaac cagtacttca ccaaccactg
     9181 cctctatttc ttgtccactc cggctaaagt gctgggcagc ggtggccacg cctctaacaa
     9241 ggagaaggaa atgatcacca gcctcttctg caaacttgct gctctcgtcc gccaccgagt
     9301 ctctctcttt gggacagacg ccccagctgt ggtcaactgt cttcacatcc tggcccgctc
     9361 cctggatgcc aggacagtga tgaagtcagg ccctgagatc gtgaaggctg gcctccgctc
     9421 cttcttcgag agtgcctcgg aggacatcga gaagatggtg gagaacctgc ggctgggcaa
     9481 ggtgtcgcag gcgcgcaccc aggtgaaagg cgtgggccag aacctcacct acaccactgt
     9541 ggcactgctg ccggtcctca ccaccctctt ccagcacatc gcccagcacc agttcggaga
     9601 tgacgtcatc ctggacgacg tccaggtctc ttgctaccga acgctgtgca gtatctactc
     9661 cctgggaacc accaagaaca cttatgtgga aaagcttcgg ccagccctcg gggagtgcct
     9721 ggcccgtctg gcagcagcca tgccggtggc gttcctggag ccgcagctga acgagtacaa
     9781 cgcctgctcc gtgtacacca ccaagtctcc gcgggagcgg gccatcctgg ggctccccaa
     9841 cagtgtggag gagatgtgtc ccgacatccc ggtgctggag cggctcatgg cagacattgg
     9901 ggggctggcc gagtcaggtg cccgctacac agagatgccg catgtcatcg agatcacgct
     9961 gcccatgcta tgcagctacc tgccccgatg gtgggagcgc gggcccgagg cacccccttc
    10021 cgccctgccc gccggcgccc ccccaccctg cacagctgtc acctctgacc acctcaactc
    10081 cctgctgggg aatatcctga gaatcatcgt caacaacctg ggcattgacg aggcctcctg
    10141 gatgaagcgg ctggctgtgt tcgcacagcc cattgtgagc cgtgcacggc cggagctcct
    10201 gcagtcccac ttcatcccaa ctatcgggcg gctgcgcaag agggcaggga aggtggtgtc
    10261 cgaggaggag cagctgcgcc tggaggccaa ggcggaggcc caggagggcg agctgctggt
    10321 gcgggacgag ttctctgtgc tctgccggga cctctacgcc ctgtatccgc tgctcatccg
    10381 ctacgtggac aacaacaggg cgcagtggct gacggagccg aatcccagcg cggaggagct
    10441 gttcaggatg gtgggcgaga tcttcatcta ctggtccaag tcccacaact tcaagcgcga
    10501 ggagcagaac tttgtggtcc agaatgagat caacaacatg tccttcctga ctgctgacaa
    10561 caaaagcaaa atggctaagg cgggagatat acagtccggt ggctcggacc aggaacgcac
    10621 caagaagaag cgccgggggg accggtactc tgtgcagacg tcactgatcg tggccacact
    10681 gaagaagatg ctgcccatcg gcctgaatat gtgtgcgccc accgaccaag acctcatcac
    10741 gctggccaag acccgttacg ccctgaaaga cacagatgag gaggtccggg aatttctgca
    10801 caacaacctt caccttcagg gaaaggtcga aggctccccg tctctgcgct ggcagatggc
    10861 tctgtaccgg ggcgtcccgg gtcgcgagga ggacgccgat gaccccgaga aaatcgtgcg
    10921 cagagtccag gaagtgtcag ccgtgctcta ctacctggac cagaccgagc acccttacaa
    10981 gtctaagaag gccgtgtggc acaagctttt gtccaaacag cgccggcggg cagtcgtggc
    11041 ctgtttccgt atgacgcccc tgtacaacct gcccacgcac cgggcatgta acatgttcct
    11101 ggagagctac aaggctgcat ggatcctgac tgaagaccac agttttgagg accgcatgat
    11161 agatgacctt tcaaaagctg gggagcagga ggaggaggag gaagaggtgg aagagaagaa
    11221 gccagacccc ctgcaccagt tggtcctgca cttcagccgc actgccctga cggaaaagag
    11281 caaactggat gaggattacc tgtacatggc ctatgctgat atcatggcaa agagctgcca
    11341 cctggaggag ggaggggaga acggtgaagc tgaagaggag gttgaggtct cctttgagga
    11401 gaaacagatg gagaagcaga ggctcttgta ccagcaagca cggctgcaca cccggggggc
    11461 ggccgagatg gtgctgcaga tgatcagtgc ctgcaaagga gagacaggtg ccatggtgtc
    11521 ctccaccctg aagctgggca tctccatcct caatggaggc aatgctgagg tccagcagaa
    11581 aatgctggat tatcttaagg acaagaagga agttggcttc ttccagagta tccaggcact
    11641 gatgcaaaca tgcagcgtcc tggatctcaa tgcctttgag agacagaaca aggccgaggg
    11701 gctgggcatg gtgaatgagg atggcactgt catcaatcgc cagaacggag agaaggtcat
    11761 ggcggatgat gaattcacac aagacctgtt ccgattccta caattgctct gtgaggggca
    11821 caataatgat ttccagaact acctacggac acagacaggg aacacgacca ctattaacat
    11881 catcatttgc actgtggact acctcctgcg gctgcaggaa tccatcagcg acttctactg
    11941 gtactactcg ggcaaggatg tcattgaaga gcagggcaag aggaacttct ccaaagccat
    12001 gtcggtggct aagcaggtgt tcaacagcct cactgagtac atccagggtc cctgcaccgg
    12061 gaaccagcag agcctggcgc acagtcgcct atgggacgca gtggtgggat tcctgcacgt
    12121 gttcgcccac atgatgatga agctcgctca ggactcaagc cagatcgagc tgctgaagga
    12181 gctgctggat ctgcagaagg acatggtggt gatgttgctg tcgctactag aagggaacgt
    12241 ggtgaacggc atgatcgccc ggcagatggt ggacatgctc gtggaatcct catccaatgt
    12301 ggagatgatc ctcaagttct tcgacatgtt cctgaaactc aaggacattg tgggctctga
    12361 agccttccag gactacgtaa cggatccccg tggcctcatc tccaagaagg acttccagaa
    12421 ggccatggac agccagaagc agttcagcgg tccagaaatc cagttcctgc tttcgtgctc
    12481 cgaagcggat gagaacgaaa tgatcaactg cgaagagttc gccaaccgct tccaggagcc
    12541 agcacgcgac atcggcttca acgtggcggt gctgctgacc aacctgtcgg agcatgtgcc
    12601 gcatgaccct cgcctgcaca acttcctgga gctggccgag agcatccttg agtacttccg
    12661 cccctacctg ggccgcatcg agatcatggg cgcgtcacgc cgcatcgagc gcatctactt
    12721 cgagatctca gagaccaacc gcgcccagtg ggagatgccc caggtgaagg agtccaagcg
    12781 ccagttcatc ttcgacgtgg tgaacgaggg cggcgaggct gagaagatgg agctcttcgt
    12841 gagtttctgc gaggacacca tcttcgagat gcagatcgcc gcgcagatct cggagcccga
    12901 gggcgagccg gagaccgacg aggacgaggg cgcgggcgcg gcggaggcgg gcgcggaagg
    12961 cgcggaggag ggcgcggcgg ggctcgaggg cacggcggcc acggcggcgg cgggggcgac
    13021 ggcgcgggtt gtggcggccg caggccgggc cctgcgaggc ctcagctacc gcagcctgcg
    13081 gcggcgcgtg cggcggctgc ggcggcttac ggcccgcgag gcggccaccg cagtggcggc
    13141 gctgctctgg gcagcagtga cgcgcgctgg ggccgctggc gcgggggcgg cggcgggcgc
    13201 gctgggcctg ctctggggct cgctgttcgg cggcggcctg gtggagggcg ccaagaaggt
    13261 gacggtgacc gagctcctgg caggcatgcc cgaccccacc agcgacgagg tgcacggcga
    13321 gcagccggcc gggccgggcg gagacgcaga cggcgagggt gccagcgagg gcgctggaga
    13381 cgccgcggag ggcgctggag acgaggagga ggcggtgcac gaggccgggc cgggcggtgc
    13441 cgacggggcg gtggccgtga ccgatggggg ccccttccgg cccgaagggg ctggcggtct
    13501 cggggacatg ggggacacga cgcctgcgga accgcccaca cccgagggct ctcccatcct
    13561 caagaggaaa ttgggggtgg atggagtgga ggaggagctc ccgccagagc cagagcccga
    13621 gccggaacca gagctggagc cggagaaagc cgatgccgag aatggggaga aggaagaagt
    13681 tcccgagccc acaccagagc cccccaagaa gcaagcacct ccctcacccc ctccaaagaa
    13741 ggaggaagct ggaggcgaat tctggggaga actggaggtg cagagggtga agttcctgaa
    13801 ctacctgtcc cggaactttt acaccctgcg gttccttgcc ctcttcttgg catttgccat
    13861 caacttcatc ttgctgtttt ataaggtctc agactctcca ccaggggagg acgacatgga
    13921 aggctcagct gctggggatg tgtcaggtgc aggctctggt ggcagctctg gctggggctt
    13981 gggggccgga gaggaggcag agggcgatga ggatgagaac atggtgtact acttcctgga
    14041 ggaaagcaca ggctacatgg aacccgccct gcggtgtctg agcctcctgc atacactggt
    14101 ggcctttctc tgcatcattg gctataattg tctcaaggtg cccctggtaa tctttaagcg
    14161 ggagaaggag ctggcccgga agctggagtt tgatggcctg tacatcacgg agcagcctga
    14221 ggacgatgac gtgaaggggc agtgggaccg actggtgctc aacacgccgt ctttccctag
    14281 caactactgg gacaagtttg tcaagcgcaa ggtcctggac aaacatgggg acatctacgg
    14341 gcgggagcgg attgctgagc tactgggcat ggacctggcc acactagaga tcacagccca
    14401 caatgagcgc aagcccaacc cgccgccagg gctgctgacc tggctcatgt ccatcgatgt
    14461 caagtaccag atctggaagt tcggggtcat cttcacagac aactccttcc tgtacctggg
    14521 ctggtatatg gtgatgtccc tcttgggaca ctacaacaac ttcttctttg ctgcccatct
    14581 cctggacatc gccatggggg tcaagacgct gcgcaccatc ctgtcctctg tcacccacaa
    14641 tgggaaacag ctggtgatga ccgtgggcct tctggcggtg gtcgtctacc tgtacaccgt
    14701 ggtggccttc aacttcttcc gcaagttcta caacaagagc gaggatgagg atgaacctga
    14761 catgaagtgt gatgacatga tgacgtgtta cctgtttcac atgtacgtgg gtgtccgggc
    14821 tggcggaggc attggggacg agatcgagga ccccgcgggt gacgaatacg agctctacag
    14881 ggtggtcttc gacatcacct tcttcttctt cgtcatcgtc atcctgttgg ccatcatcca
    14941 gggtctgatc atcgacgctt ttggtgagct ccgagaccaa caagagcaag tgaaggagga
    15001 tatggagacc aagtgcttca tctgtggaat cggcagtgac tactttgata cgacaccgca
    15061 tggcttcgag actcacacgc tggaggagca caacctggcc aattacatgt ttttcctgat
    15121 gtatttgata aacaaggatg agacagaaca cacgggtcag gagtcttatg tctggaagat
    15181 gtaccaagag agatgttggg atttcttccc agctggtgat tgtttccgta agcagtatga
    15241 ggaccagctt agctgacaca cccccagctg gccctccacc cccacctcaa gtgccttatt
    15301 ctcacagcaa gccccttagt ccccaagccc ctccccctaa ggcagctggg ggagaggtga
    15361 cctagtactg gaaaataaat ctgtgctacg ccccccagca
//
LOCUS       NM_000541               1596 bp    mRNA    linear   PRI 29-APR-2023
DEFINITION  Homo sapiens S-antigen visual arrestin (SAG), mRNA.
ACCESSION   NM_000541
VERSION     NM_000541.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1596)
  AUTHORS   Guet-McCreight A, Chameh HM, Mahallati S, Wishart M, Tripathy SJ,
            Valiante TA and Hay E.
  TITLE     Age-dependent increased sag amplitude in human pyramidal neurons
            dampens baseline cortical activity
  JOURNAL   Cereb Cortex 33 (8), 4360-4373 (2023)
   PUBMED   36124673
REFERENCE   2  (bases 1 to 1596)
  AUTHORS   Tawfik CA, Elbagoury NM, Khater NI and Essawi ML.
  TITLE     Mutation analysis reveals novel and known mutations in SAG gene in
            first two Egyptian families with Oguchi disease
  JOURNAL   BMC Ophthalmol 22 (1), 217 (2022)
   PUBMED   35549688
  REMARK    GeneRIF: Mutation analysis reveals novel and known mutations in SAG
            gene in first two Egyptian families with Oguchi disease. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 1596)
  AUTHORS   Pappalardo J, Heath Jeffery RC, Thompson JA, Charng J, Chelva ES,
            Constable IJ, McLaren TL, Lamey TM, De Roach JN and Chen FK.
  TITLE     Progressive sector retinitis pigmentosa due to c.440G>T mutation in
            SAG in an Australian family
  JOURNAL   Ophthalmic Genet 42 (1), 62-70 (2021)
   PUBMED   33047631
  REMARK    GeneRIF: Progressive sector retinitis pigmentosa due to c.440G>T
            mutation in SAG in an Australian family.
REFERENCE   4  (bases 1 to 1596)
  AUTHORS   Liu X, Gao L, Wang G, Long Y, Ren J, Fujinami K, Meng X and Li S.
  TITLE     Oguchi disease caused by a homozygous novel SAG splicing alteration
            associated with the multiple evanescent white dot syndrome: A
            15-month follow-up
  JOURNAL   Doc Ophthalmol 141 (3), 217-226 (2020)
   PUBMED   32333190
  REMARK    GeneRIF: Oguchi disease caused by a homozygous novel SAG splicing
            alteration associated with the multiple evanescent white dot
            syndrome: A 15-month follow-up.
REFERENCE   5  (bases 1 to 1596)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1596)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
REFERENCE   7  (bases 1 to 1596)
  AUTHORS   Huang SK, Klein DC and Korf HW.
  TITLE     Immunocytochemical demonstration of rod-opsin, S-antigen, and
            neuron-specific proteins in the human pineal gland
  JOURNAL   Cell Tissue Res 267 (3), 493-498 (1992)
   PUBMED   1533347
REFERENCE   8  (bases 1 to 1596)
  AUTHORS   Yamaki K, Tsuda M, Kikuchi T, Chen KH, Huang KP and Shinohara T.
  TITLE     Structural organization of the human S-antigen gene. cDNA, amino
            acid, intron, exon, promoter, in vitro transcription, retina, and
            pineal gland
  JOURNAL   J Biol Chem 265 (34), 20757-20762 (1990)
   PUBMED   2249983
REFERENCE   9  (bases 1 to 1596)
  AUTHORS   Yamaki K, Tsuda M and Shinohara T.
  TITLE     The sequence of human retinal S-antigen reveals similarities with
            alpha-transducin
  JOURNAL   FEBS Lett 234 (1), 39-43 (1988)
   PUBMED   3164688
  REMARK    Erratum:[FEBS Lett 1988 Aug 29;236(2):507]
REFERENCE   10  (bases 1 to 1596)
  AUTHORS   McKechnie,N.M., Al-Mahdawi,S., Dutton,G. and Forrester,J.V.
  TITLE     Ultrastructural localization of retinal S antigen in the human
            retina
  JOURNAL   Exp Eye Res 42 (5), 479-487 (1986)
   PUBMED   3720866
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000409110.6/ ENSP00000386444.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013726.7, DQ980620.1,
            BQ639030.1, BQ636894.1 and BU734369.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 24, 2018 this sequence version replaced NM_000541.4.
            Summary: Members of arrestin/beta-arrestin protein family are
            thought to participate in agonist-mediated desensitization of
            G-protein-coupled receptors and cause specific dampening of
            cellular responses to stimuli such as hormones, neurotransmitters,
            or sensory signals. S-arrestin, also known as S-antigen, is a major
            soluble photoreceptor protein that is involved in desensitization
            of the photoactivated transduction cascade. It is expressed in the
            retina and the pineal gland and inhibits coupling of rhodopsin to
            transducin in vitro. Additionally, S-arrestin is highly antigenic,
            and is capable of inducing experimental autoimmune uveoretinitis.
            Mutations in this gene have been associated with Oguchi disease, a
            rare autosomal recessive form of night blindness. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1596
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..1596
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /note="S-antigen visual arrestin"
                     /db_xref="GeneID:6295"
                     /db_xref="HGNC:HGNC:10521"
                     /db_xref="MIM:181031"
     misc_feature    212..214
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /note="upstream in-frame stop codon"
     CDS             236..1453
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /note="arrestin 1; rod photoreceptor arrestin; retinal
                     S-antigen (48 KDa protein); 48 kDa protein; S-antigen;
                     retina and pineal gland (arrestin); rod arrestin"
                     /codon_start=1
                     /product="S-arrestin"
                     /protein_id="NP_000532.2"
                     /db_xref="CCDS:CCDS46545.1"
                     /db_xref="GeneID:6295"
                     /db_xref="HGNC:HGNC:10521"
                     /db_xref="MIM:181031"
                     /translation="MAASGKTSKSEPNHVIFKKISRDKSVTIYLGNRDYIDHVSQVQPV
                     DGVVLVDPDLVKGKKVYVTLTCAFRYGQEDIDVIGLTFRRDLYFSRVQVYPPVGAASTP
                     TKLQESLLKKLGSNTYPFLLTFPDYLPCSVMLQPAPQDSGKSCGVDFEVKAFATDSTDA
                     EEDKIPKKSSVRLLIRKVQHAPLEMGPQPRAEAAWQFFMSDKPLHLAVSLNKEIYFHGE
                     PIPVTVTVTNNTEKTVKKIKAFVEQVANVVLYSSDYYVKPVAMEEAQEKVPPNSTLTKT
                     LTLLPLLANNRERRGIALDGKIKHEDTNLASSTIIKEGIDRTVLGILVSYQIKVKLTVS
                     GFLGELTSSEVATEVPFRLMHPQPEDPAKESYQDANLVFEEFARHNLKDAGEAEEGKRD
                     KNDVDE"
     misc_feature    935..937
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P15887; propagated from
                     UniProtKB/Swiss-Prot (P10523.3); phosphorylation site"
     regulatory      1571..1576
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /note="hexamer: AATAAA"
     polyA_site      1596
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /note="major polyA site"
ORIGIN
        1 gagacctgga tgctgggcat cctcgctaga tcccctacaa attccccaca tacgtaggcc
       61 aggagcctca gcggtgcccc ttcaggctca tctggcaaga cggtaccagc ttgctcagaa
      121 caggggctgg ctattcatca tctcagagca tagagaccct ctccttgcca cccggccctt
      181 cccacctggt tggtgacaaa tcacaaggtg gtagaagttg ccagggacag ataacatggc
      241 agccagcggg aagaccagca agtccgaacc gaaccatgtt atcttcaaga agatctcccg
      301 ggacaaatcg gtgaccatct acctggggaa cagagactac atagaccatg tcagccaagt
      361 ccagcctgtg gatggtgtcg tgttggttga tcctgatctt gtgaagggaa agaaagtgta
      421 tgtcactctg acctgcgcct tccgctatgg ccaagaggac attgacgtga tcggcttgac
      481 cttccgcagg gacctgtact tctcccgggt ccaggtgtat cctcctgtgg gggccgcgag
      541 cacccccaca aaactgcaag agagcctgct taaaaagctg gggagcaaca cgtacccctt
      601 tctcctgacg tttcctgact acttgccctg ttcagtgatg ttgcagccag ctccacaaga
      661 ttcagggaag tcctgtgggg ttgactttga ggtcaaagca ttcgccacag acagcaccga
      721 tgccgaagag gacaaaatcc ccaagaagag ctccgtgcga ttactgatcc gcaaagtaca
      781 gcatgcccca cttgagatgg gtccccagcc ccgagctgag gcggcctggc agttcttcat
      841 gtctgacaag cccctgcacc ttgcggtctc tctcaacaaa gagatctatt tccatgggga
      901 gcccatccct gtgaccgtga ctgtcaccaa taacacagag aagaccgtga agaagattaa
      961 agcattcgtg gaacaggtgg ccaatgtggt tctctactcg agtgattatt acgtcaagcc
     1021 cgtggctatg gaggaagcgc aagaaaaagt gccaccaaac agcactttga ccaagacgct
     1081 gacgctgctg cccttgctgg ctaacaatcg agaaaggaga ggcattgccc tggatgggaa
     1141 aatcaagcac gaggacacaa accttgcctc cagcaccatc attaaggagg gcatagaccg
     1201 gaccgtcctg ggaatcctgg tgtcttacca gatcaaggtg aagctcacag tgtcaggctt
     1261 tctgggagag ctcacctcca gtgaagtcgc cactgaggtc ccattccgcc tcatgcaccc
     1321 tcagcctgag gacccagcta aggaaagtta tcaggatgca aatttagttt ttgaggagtt
     1381 tgctcgccat aatctgaaag atgcaggaga agctgaggag gggaagagag acaagaatga
     1441 cgttgatgag tgaagatgtc ggctcaggat gccggaaaat gacctgtagt taccagtgca
     1501 acgagcaaag ccccacagtt tagtcctttg gagttatgct gcgtatgaaa ggatgagtct
     1561 tcttccgaga aataaagctt gtttgttctc ccctgg
//
LOCUS       NM_000542               3550 bp    mRNA    linear   PRI 22-JAN-2023
DEFINITION  Homo sapiens surfactant protein B (SFTPB), transcript variant 1,
            mRNA.
ACCESSION   NM_000542
VERSION     NM_000542.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3550)
  AUTHORS   Fishchuk L, Rossokha Z, Pokhylko V, Cherniavska Y, Popova O,
            Vershyhora V, Kovtun S and Gorovenko N.
  TITLE     SFTPB (rs11130866) and NR3C1 (rs41423247) gene variants as potential
            clinical biomarkers for personalized treatment strategy selection in
            patients with severe COVID-19 pneumonia
  JOURNAL   Respir Investig 61 (1), 103-109 (2023)
   PUBMED   36460583
  REMARK    GeneRIF: SFTPB (rs11130866) and NR3C1 (rs41423247) gene variants as
            potential clinical biomarkers for personalized treatment strategy
            selection in patients with severe COVID-19 pneumonia.
REFERENCE   2  (bases 1 to 3550)
  AUTHORS   Yang X, Yang P, Zhang J, Yang Y, Xiong M, Shi F, Li N and Jin Y.
  TITLE     Silica nanoparticle exposure inhibits surfactant protein A and B in
            A549 cells through ROS-mediated JNK/c-Jun signaling pathway
  JOURNAL   Environ Toxicol 37 (9), 2291-2301 (2022)
   PUBMED   35689653
  REMARK    GeneRIF: Silica nanoparticle exposure inhibits surfactant protein A
            and B in A549 cells through ROS-mediated JNK/c-Jun signaling
            pathway.
REFERENCE   3  (bases 1 to 3550)
  AUTHORS   Shao B, Snell-Bergeon JK, Pyle LL, Thomas KE, de Boer IH, Kothari V,
            Segrest J, Davidson WS, Bornfeldt KE and Heinecke JW.
  TITLE     Pulmonary surfactant protein B carried by HDL predicts incident CVD
            in patients with type 1 diabetes
  JOURNAL   J Lipid Res 63 (4), 100196 (2022)
   PUBMED   35300983
  REMARK    GeneRIF: Pulmonary surfactant protein B carried by HDL predicts
            incident CVD in patients with type 1 diabetes.
REFERENCE   4  (bases 1 to 3550)
  AUTHORS   Huang H, Pan J, Spielberg DR, Hanchard NA, Scott DA, Burrage LC, Dai
            H, Murdock D, Rosenfeld JA, Mohammad A, Huang T, Lindsey AG, Kim H,
            Chen J, Ramu A, Morrison SA, Dawson ZD, Hu AZ, Tycksen E, Silverman
            GA, Baldridge D, Wambach JA, Pak SC, Brody SL and Schedl T.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     A dominant negative variant of RAB5B disrupts maturation of
            surfactant protein B and surfactant protein C
  JOURNAL   Proc Natl Acad Sci U S A 119 (6) (2022)
   PUBMED   35121658
  REMARK    GeneRIF: A dominant negative variant of RAB5B disrupts maturation of
            surfactant protein B and surfactant protein C.
REFERENCE   5  (bases 1 to 3550)
  AUTHORS   Chaiworapongsa T, Hong JS, Hull WM, Romero R and Whitsett JA.
  TITLE     Amniotic fluid concentration of surfactant proteins in
            intra-amniotic infection
  JOURNAL   J Matern Fetal Neonatal Med 21 (9), 663-670 (2008)
   PUBMED   18828060
  REMARK    GeneRIF: Intra-amniotic infection was associated with an increased
            amniotic fluid concentration of SP-B in patients who received
            antenatal corticosteroids within 7 days prior to amniocentesis.
REFERENCE   6  (bases 1 to 3550)
  AUTHORS   Woodworth BA, Wood R, Bhargave G, Cohen NA, Baatz JE and Schlosser
            RJ.
  TITLE     Surfactant protein B detection and gene expression in chronic
            rhinosinusitis
  JOURNAL   Laryngoscope 117 (7), 1296-1301 (2007)
   PUBMED   17507829
  REMARK    GeneRIF: This is the first study to detect and characterize SP-B in
            human sinus mucosa. Furthermore, SP-B is significantly up-regulated
            in cystic fibrosis chronic rhinosinusitis.
REFERENCE   7  (bases 1 to 3550)
  AUTHORS   Voorhout WF, Veenendaal T, Haagsman HP, Weaver TE, Whitsett JA, van
            Golde LM and Geuze HJ.
  TITLE     Intracellular processing of pulmonary surfactant protein B in an
            endosomal/lysosomal compartment
  JOURNAL   Am J Physiol 263 (4 Pt 1), L479-L486 (1992)
   PUBMED   1415726
REFERENCE   8  (bases 1 to 3550)
  AUTHORS   Yu SH and Possmayer F.
  TITLE     Effect of pulmonary surfactant protein B (SP-B) and calcium on
            phospholipid adsorption and squeeze-out of phosphatidylglycerol from
            binary phospholipid monolayers containing
            dipalmitoylphosphatidylcholine
  JOURNAL   Biochim Biophys Acta 1126 (1), 26-34 (1992)
   PUBMED   1606172
REFERENCE   9  (bases 1 to 3550)
  AUTHORS   Johansson J, Jornvall H and Curstedt T.
  TITLE     Human surfactant polypeptide SP-B. Disulfide bridges, C-terminal
            end, and peptide analysis of the airway form
  JOURNAL   FEBS Lett 301 (2), 165-167 (1992)
   PUBMED   1568474
REFERENCE   10  (bases 1 to 3550)
  AUTHORS   Moore KJ, D'Amore-Bruno MA, Korfhagen TR, Glasser SW, Whitsett JA,
            Jenkins NA and Copeland NG.
  TITLE     Chromosomal localization of three pulmonary surfactant protein genes
            in the mouse
  JOURNAL   Genomics 12 (2), 388-393 (1992)
   PUBMED   1346779
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.205295.1,
            DRR138524.23628.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144333,
            SAMEA2147920 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000519937.7/ ENSP00000428719.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012454.8 and J02761.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000542.4.
            Summary: This gene encodes the pulmonary-associated surfactant
            protein B (SPB), an amphipathic surfactant protein essential for
            lung function and homeostasis after birth. Pulmonary surfactant is
            a surface-active lipoprotein complex composed of 90% lipids and 10%
            proteins which include plasma proteins and apolipoproteins SPA,
            SPB, SPC and SPD. The surfactant is secreted by the alveolar cells
            of the lung and maintains the stability of pulmonary tissue by
            reducing the surface tension of fluids that coat the lung. The SPB
            enhances the rate of spreading and increases the stability of
            surfactant monolayers in vitro. Multiple mutations in this gene
            have been identified, which cause pulmonary surfactant metabolism
            dysfunction type 1, also called pulmonary alveolar proteinosis due
            to surfactant protein B deficiency, and are associated with fatal
            respiratory distress in the neonatal period. Alternatively spliced
            transcript variants encoding the same protein have been
            identified.[provided by RefSeq, Feb 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3550
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..3550
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /note="surfactant protein B"
                     /db_xref="GeneID:6439"
                     /db_xref="HGNC:HGNC:10801"
                     /db_xref="MIM:178640"
     CDS             17..1162
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; 6 kDa protein; 18 kDa pulmonary-surfactant protein;
                     pulmonary surfactant-associated proteolipid SPL(Phe)"
                     /codon_start=1
                     /product="pulmonary surfactant-associated protein B isoform
                     1 precursor"
                     /protein_id="NP_000533.4"
                     /db_xref="CCDS:CCDS1983.3"
                     /db_xref="GeneID:6439"
                     /db_xref="HGNC:HGNC:10801"
                     /db_xref="MIM:178640"
                     /translation="MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQ
                     ALQCRALGHCLQEVWGHVGADDLCQECEDIVHILNKMAKEAIFQDTMRKFLEQECNVLP
                     LKLLMPQCNQVLDDYFPLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPLPKP
                     LRDPLPDPLLDKLVLPVLPGALQARPGPHTQDLSEQQFPIPLPYCWLCRALIKRIQAMI
                     PKGALAVAVAQVCRVVPLVAGGICQCLAERYSVILLDTLLGRMLPQLVCRLVLRCSMDD
                     SAGPRSPTGEWLPRDSECHLCMSVTTQAGNSSEQAIPQAMLQACVGSWLDREKCKQFVE
                     QHTPQLLTLVPRGWDAHTTCQALGVCGTMSSPLQCIHSPDL"
     sig_peptide     17..85
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    401..403
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00415; propagated
                     from UniProtKB/Swiss-Prot (P07988.3); glycosylation site"
     mat_peptide     617..853
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /product="Pulmonary surfactant-associated protein B.
                     /id=PRO_0000031648"
                     /note="propagated from UniProtKB/Swiss-Prot (P07988.3)"
     misc_feature    947..949
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00415; propagated
                     from UniProtKB/Swiss-Prot (P07988.3); glycosylation site"
     regulatory      2579..2584
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /note="hexamer: AACAAG"
     polyA_site      2609
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /note="major polyA site"
     regulatory      3159..3164
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /note="hexamer: ATTAAA"
     polyA_site      3185
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /note="major polyA site"
ORIGIN
        1 aggctgcaga ggtgccatgg ctgagtcaca cctgctgcag tggctgctgc tgctgctgcc
       61 cacgctctgt ggcccaggca ctgctgcctg gaccacctca tccttggcct gtgcccaggg
      121 ccctgagttc tggtgccaaa gcctggagca agcattgcag tgcagagccc tagggcattg
      181 cctacaggaa gtctggggac atgtgggagc cgatgaccta tgccaagagt gtgaggacat
      241 cgtccacatc cttaacaaga tggccaagga ggccattttc caggacacga tgaggaagtt
      301 cctggagcag gagtgcaacg tcctcccctt gaagctgctc atgccccagt gcaaccaagt
      361 gcttgacgac tacttccccc tggtcatcga ctacttccag aaccagactg actcaaacgg
      421 catctgtatg cacctgggcc tgtgcaaatc ccggcagcca gagccagagc aggagccagg
      481 gatgtcagac cccctgccca aacctctgcg ggaccctctg ccagaccctc tgctggacaa
      541 gctcgtcctc cctgtgctgc ccggggccct ccaggcgagg cctgggcctc acacacagga
      601 tctctccgag cagcaattcc ccattcctct cccctattgc tggctctgca gggctctgat
      661 caagcggatc caagccatga ttcccaaggg tgcgctagct gtggcagtgg cccaggtgtg
      721 ccgcgtggta cctctggtgg cgggcggcat ctgccagtgc ctggctgagc gctactccgt
      781 catcctgctc gacacgctgc tgggccgcat gctgccccag ctggtctgcc gcctcgtcct
      841 ccggtgctcc atggatgaca gcgctggccc aaggtcgccg acaggagaat ggctgccgcg
      901 agactctgag tgccacctct gcatgtccgt gaccacccag gccgggaaca gcagcgagca
      961 ggccatacca caggcaatgc tccaggcctg tgttggctcc tggctggaca gggaaaagtg
     1021 caagcaattt gtggagcagc acacgcccca gctgctgacc ctggtgccca ggggctggga
     1081 tgcccacacc acctgccagg ccctcggggt gtgtgggacc atgtccagcc ctctccagtg
     1141 tatccacagc cccgaccttt gatgagaact cagctgtcca gctgcaaagg aaaagccaag
     1201 tgagacgggc tctgggacca tggtgaccag gctcttcccc tgctccctgg ccctcgccag
     1261 ctgccaggct gaaaagaagc ctcagctccc acaccgccct cctcaccgcc cttcctcggc
     1321 agtcacttcc actggtggac cacgggcccc cagccctgtg tcggccttgt ctgtctcagc
     1381 tcaaccacag tctgacacca gagcccactt ccatcctctc tggtgtgagg cacagcgagg
     1441 gcagcatctg gaggagctct gcagcctcca cacctaccac gacctcccag ggctgggctc
     1501 aggaaaaacc agccactgct ttacaggaca gggggttgaa gctgagcccc gcctcacacc
     1561 cacccccatg cactcaaaga ttggatttta cagctacttg caattcaaaa ttcagaagaa
     1621 taaaaaatgg gaacatacag aactctaaaa gatagacatc agaaattgtt aagttaagct
     1681 ttttcaaaaa atcagcaatt ccccagcgta gtcaagggtg gacactgcac gctctggcat
     1741 gatgggatgg cgaccgggca agctttcttc ctcgagatgc tctgctgctt gagagctatt
     1801 gctttgttaa gatataaaaa ggggtttctt tttgtctttc tgtaaggtgg acttccagct
     1861 tttgattgaa agtcctaggg tgattctatt tctgctgtga tttatctgct gaaagctcag
     1921 ctggggttgt gcaagctagg gacccattcc tgtgtaatac aatgtctgca ccaatgctaa
     1981 taaagtccta ttctctttta tgagaaagaa aaagacaccg tcctttaaag tgctgcagta
     2041 tggccagacg tggtggctca cacctgcaat cccagcacct taggaggccg aggcaggagg
     2101 atccttgagg tcaggagttc gagaccagcc tcgccaacat ggtgaaaccc catttctact
     2161 aaaaatacaa aaaattagcc aagtgtggtg gcatatgcct gtaatcccaa ctactcagaa
     2221 ggccgaggca ggagaattac ttgaacgcag gagaatcact gcagcccagg aggcagaggt
     2281 tgcagtgagc cgagattgca ccactgcact ccagcctggg tgacagagca agactccatc
     2341 tcagtaaata aataaataaa taaaaagcgc tgcagtagct gtggcctcac cctgaagtca
     2401 gcgggcccag gcctacctca ctctctccct tggcagagaa gcagacgtcc atagctcctc
     2461 tccctcacaa gcgctcccag cctgccctcc agctgctgct ctcccctccc agtctctact
     2521 cactgggatg aggttaggtc atgaggacac caaaaaccta aaaataaaca aaaagccaaa
     2581 caagccttag cttttcttaa agactgaaat gcctggaagt gtccctttat ttataaaata
     2641 acttttgtca tatttcttat acatgtttct tgtaagaaat tcagaaacta cagacaaaga
     2701 gagtggaaat tacccactgt caggcctctg agcccaagct aagccatcat atcccctgtg
     2761 ccctgcacgt atacacccag atggcctgaa gcaactgaag atccacaaaa gaagtgaaaa
     2821 tagccagttc ctgccttaac tgatgacatt ccaccattgt gatttgttcc tgccccaccc
     2881 taactgatca attgaccttg tgacaataca ccttccccac ccttgagaag gtgctttgta
     2941 atattctccc cacccacccc acgcccgcac ccccgcaccc ttaagaaggt attttgtaat
     3001 attctctccg ccattgagaa tgtgctttgt aagatccacc ccctgcccac aaaaaattgc
     3061 tcctaactcc accgcctatc ccaaacctac aagaactaat gataatccca ccaccctttg
     3121 ctgactcttt ttggactcag cccacctgca cccaggtgat taaaaagctt tattgttcac
     3181 acaaagcctg tttggtagtc tcttcacagg gaagcatgtg acacccacaa tcccacctag
     3241 cccaggagag agctacggca gggtgtgtgt tttgacactg agcttggggc tttttccatc
     3301 ttctccccac agcctctggc tccacacctc caccgttcaa gcgccagaaa gagctgtcta
     3361 tgcagcctgc tcttgggcct ggggatgaga cacacaattc attggctcct ggattttaag
     3421 tagacatttg taaatctata gctaactact gtccttaaag ccattgtttc cattacaaaa
     3481 tccaactctc tgagagaaaa gggtgtttta aatttaaaaa aataaaaaca aaaaagtttg
     3541 attgagacaa
//
LOCUS       NM_000543               2410 bp    mRNA    linear   PRI 07-JUL-2023
DEFINITION  Homo sapiens sphingomyelin phosphodiesterase 1 (SMPD1), transcript
            variant 1, mRNA.
ACCESSION   NM_000543
VERSION     NM_000543.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2410)
  AUTHORS   Wilson GC, Patel SH, Wang J, Xu K, Turner KM, Becker KA, Carpinteiro
            A, Szabo I, Ahmad SA and Gulbins E.
  TITLE     Acid sphingomyelinase expression is associated with survival in
            resectable pancreatic ductal adenocarcinoma
  JOURNAL   J Mol Med (Berl) 101 (7), 891-903 (2023)
   PUBMED   37246980
  REMARK    GeneRIF: Acid sphingomyelinase expression is associated with
            survival in resectable pancreatic ductal adenocarcinoma.
REFERENCE   2  (bases 1 to 2410)
  AUTHORS   Scarpa M, Barbato A, Bisconti A, Burlina A, Concolino D, Deodato F,
            Di Rocco M, Dionisi-Vici C, Donati MA, Fecarotta S, Fiumara A,
            Galeone C, Giona F, Giuffrida G, Manna R, Mariani P, Pession A,
            Scopinaro A, Spada M, Spandonaro F, Trifiro G, Carubbi F and
            Cappellini MD.
  TITLE     Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps
            in unmet needs and patient journey in Italy-a Delphi consensus
  JOURNAL   Intern Emerg Med 18 (3), 831-842 (2023)
   PUBMED   36882619
  REMARK    GeneRIF: Acid sphingomyelinase deficiency (ASMD): addressing
            knowledge gaps in unmet needs and patient journey in Italy-a Delphi
            consensus.
REFERENCE   3  (bases 1 to 2410)
  AUTHORS   Wang R, Qin Z, Huang L, Luo H, Peng H, Zhou X, Zhao Z, Liu M, Yang P
            and Shi T.
  TITLE     SMPD1 expression profile and mutation landscape help decipher
            genotype-phenotype association and precision diagnosis for acid
            sphingomyelinase deficiency
  JOURNAL   Hereditas 160 (1), 11 (2023)
   PUBMED   36907956
  REMARK    GeneRIF: SMPD1 expression profile and mutation landscape help
            decipher genotype-phenotype association and precision diagnosis for
            acid sphingomyelinase deficiency. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2410)
  AUTHORS   Wasserstein,M.P. and Schuchman,E.H.
  TITLE     Acid Sphingomyelinase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301544
REFERENCE   5  (bases 1 to 2410)
  AUTHORS   Newrzella D and Stoffel W.
  TITLE     Molecular cloning of the acid sphingomyelinase of the mouse and the
            organization and complete nucleotide sequence of the gene
  JOURNAL   Biol Chem Hoppe Seyler 373 (12), 1233-1238 (1992)
   PUBMED   1292508
REFERENCE   6  (bases 1 to 2410)
  AUTHORS   Takahashi T, Desnick RJ, Takada G and Schuchman EH.
  TITLE     Identification of a missense mutation (S436R) in the acid
            sphingomyelinase gene from a Japanese patient with type B
            Niemann-Pick disease
  JOURNAL   Hum Mutat 1 (1), 70-71 (1992)
   PUBMED   1301192
REFERENCE   7  (bases 1 to 2410)
  AUTHORS   Schuchman EH, Suchi M, Takahashi T, Sandhoff K and Desnick RJ.
  TITLE     Human acid sphingomyelinase. Isolation, nucleotide sequence and
            expression of the full-length and alternatively spliced cDNAs
  JOURNAL   J Biol Chem 266 (13), 8531-8539 (1991)
   PUBMED   1840600
REFERENCE   8  (bases 1 to 2410)
  AUTHORS   Levran O, Desnick RJ and Schuchman EH.
  TITLE     Niemann-Pick disease: a frequent missense mutation in the acid
            sphingomyelinase gene of Ashkenazi Jewish type A and B patients
  JOURNAL   Proc Natl Acad Sci U S A 88 (9), 3748-3752 (1991)
   PUBMED   2023926
REFERENCE   9  (bases 1 to 2410)
  AUTHORS   da Veiga Pereira L, Desnick RJ, Adler DA, Disteche CM and Schuchman
            EH.
  TITLE     Regional assignment of the human acid sphingomyelinase gene (SMPD1)
            by PCR analysis of somatic cell hybrids and in situ hybridization to
            11p15.1----p15.4
  JOURNAL   Genomics 9 (2), 229-234 (1991)
   PUBMED   2004772
REFERENCE   10  (bases 1 to 2410)
  AUTHORS   Quintern LE, Schuchman EH, Levran O, Suchi M, Ferlinz K, Reinke H,
            Sandhoff K and Desnick RJ.
  TITLE     Isolation of cDNA clones encoding human acid sphingomyelinase:
            occurrence of alternatively processed transcripts
  JOURNAL   EMBO J 8 (9), 2469-2473 (1989)
   PUBMED   2555181
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.126536.1, AB209775.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000342245.9/ ENSP00000340409.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB209775.1, M59916.1 and
            AA746054.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000543.4.
            Summary: The protein encoded by this gene is a lysosomal acid
            sphingomyelinase that converts sphingomyelin to ceramide. The
            encoded protein also has phospholipase C activity. Defects in this
            gene are a cause of Niemann-Pick disease type A (NPA) and
            Niemann-Pick disease type B (NPB). Multiple transcript variants
            encoding different isoforms have been identified. [provided by
            RefSeq, Jul 2010].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2410
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..2410
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /note="sphingomyelin phosphodiesterase 1"
                     /db_xref="GeneID:6609"
                     /db_xref="HGNC:HGNC:11120"
                     /db_xref="MIM:607608"
     misc_feature    24..26
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /note="upstream in-frame stop codon"
     CDS             126..2021
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /EC_number="3.1.4.12"
                     /EC_number="3.1.4.3"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; acid sphingomyelinase; sphingomyelin phosphodiesterase
                     1, acid lysosomal; Niemann-Pick type A/B"
                     /codon_start=1
                     /product="sphingomyelin phosphodiesterase isoform 1
                     precursor"
                     /protein_id="NP_000534.3"
                     /db_xref="CCDS:CCDS44531.1"
                     /db_xref="GeneID:6609"
                     /db_xref="HGNC:HGNC:11120"
                     /db_xref="MIM:607608"
                     /translation="MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALAL
                     ALALSDSRVLWAPAEAHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLG
                     LKKEPNVARVGSVAIKLCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLL
                     GSTCGHWDIFSSWNISLPTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPD
                     CADPLCCRRGSGLPPASRPGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDI
                     PAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSS
                     RWLYEAMAKAWEPWLPAEALRTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINST
                     DPAGQLQWLVGELQAAEDRGDKVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFG
                     HTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHE
                     TYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLY
                     HKGHPPSEPCGTPCRLATLCAQLSARADSPALCRHLMPDGSLPEAQSLWPRPLFC"
     sig_peptide     126..263
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /note="propagated from UniProtKB/Swiss-Prot (P17405.5)"
     misc_feature    126..194
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /note="propagated from UniProtKB/Swiss-Prot (P17405.5);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     264..2018
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /product="Sphingomyelin phosphodiesterase.
                     /id=PRO_0000002323"
                     /note="propagated from UniProtKB/Swiss-Prot (P17405.5)"
     misc_feature    387..389
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00415,
                     ECO:0000269|PubMed:27349982, ECO:0000269|PubMed:9030779,
                     ECO:0007744|PDB:5I81, ECO:0007744|PDB:5I85,
                     ECO:0007744|PDB:5I8R, ECO:0007744|PDB:5JG8; propagated from
                     UniProtKB/Swiss-Prot (P17405.5); glycosylation site"
     misc_feature    654..656
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00415,
                     ECO:0000269|PubMed:27349982, ECO:0000269|PubMed:9030779,
                     ECO:0007744|PDB:5I81, ECO:0007744|PDB:5I85,
                     ECO:0007744|PDB:5I8R, ECO:0007744|PDB:5JG8; propagated from
                     UniProtKB/Swiss-Prot (P17405.5); glycosylation site"
     misc_feature    882..887
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /note="Cleavage, by CASP7.
                     /evidence=ECO:0000269|PubMed:21157428; propagated from
                     UniProtKB/Swiss-Prot (P17405.5); cleavage site"
     mat_peptide     885..2018
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /product="Sphingomyelin phosphodiesterase, processed form.
                     /id=PRO_0000456684"
                     /note="propagated from UniProtKB/Swiss-Prot (P17405.5)"
     misc_feature    1134..1136
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00415,
                     ECO:0000269|PubMed:27349982, ECO:0000269|PubMed:9030779,
                     ECO:0007744|PDB:5I81, ECO:0007744|PDB:5I8R,
                     ECO:0007744|PDB:5JG8; propagated from UniProtKB/Swiss-Prot
                     (P17405.5); glycosylation site"
     misc_feature    1314..1316
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00415,
                     ECO:0000269|PubMed:27349982, ECO:0000269|PubMed:9030779,
                     ECO:0007744|PDB:5I81, ECO:0007744|PDB:5I85,
                     ECO:0007744|PDB:5I8R, ECO:0007744|PDB:5JG8; propagated from
                     UniProtKB/Swiss-Prot (P17405.5); glycosylation site"
     misc_feature    1638..1640
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:27349982,
                     ECO:0007744|PDB:5I81, ECO:0007744|PDB:5I85,
                     ECO:0007744|PDB:5I8R, ECO:0007744|PDB:5JG8; propagated from
                     UniProtKB/Swiss-Prot (P17405.5); glycosylation site"
     misc_feature    1653..1655
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /note="Phosphoserine, by PKC/PRKCD.
                     /evidence=ECO:0000269|PubMed:17303575; propagated from
                     UniProtKB/Swiss-Prot (P17405.5); phosphorylation site"
     misc_feature    1689..1691
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00415,
                     ECO:0000269|PubMed:27349982, ECO:0000269|PubMed:9030779,
                     ECO:0007744|PDB:5I81, ECO:0007744|PDB:5I85,
                     ECO:0007744|PDB:5I8R, ECO:0007744|PDB:5JG8; propagated from
                     UniProtKB/Swiss-Prot (P17405.5); glycosylation site"
     regulatory      2385..2390
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /note="hexamer: AATAAA"
     polyA_site      2410
                     /gene="SMPD1"
                     /gene_synonym="ASM; ASMASE; NPD"
                     /note="major polyA site"
ORIGIN
        1 agtcagccga ctacagagaa gggtaatcgg gtgtccccgg cgccgcccgg ggccctgagg
       61 gctggctagg gtccaggccg ggggggacgg gacagacgaa ccagccccgt gtaggaagcg
      121 cgacaatgcc ccgctacgga gcgtcactcc gccagagctg ccccaggtcc ggccgggagc
      181 agggacaaga cgggaccgcc ggagcccccg gactcctttg gatgggcctg gtgctggcgc
      241 tggcgctggc gctggcgctg gcgctggctc tgtctgactc tcgggttctc tgggctccgg
      301 cagaggctca ccctctttct ccccaaggcc atcctgccag gttacatcgc atagtgcccc
      361 ggctccgaga tgtctttggg tgggggaacc tcacctgccc aatctgcaaa ggtctattca
      421 ccgccatcaa cctcgggctg aagaaggaac ccaatgtggc tcgcgtgggc tccgtggcca
      481 tcaagctgtg caatctgctg aagatagcac cacctgccgt gtgccaatcc attgtccacc
      541 tctttgagga tgacatggtg gaggtgtgga gacgctcagt gctgagccca tctgaggcct
      601 gtggcctgct cctgggctcc acctgtgggc actgggacat tttctcatct tggaacatct
      661 ctttgcctac tgtgccgaag ccgcccccca aaccccctag ccccccagcc ccaggtgccc
      721 ctgtcagccg catcctcttc ctcactgacc tgcactggga tcatgactac ctggagggca
      781 cggaccctga ctgtgcagac ccactgtgct gccgccgggg ttctggcctg ccgcccgcat
      841 cccggccagg tgccggatac tggggcgaat acagcaagtg tgacctgccc ctgaggaccc
      901 tggagagcct gttgagtggg ctgggcccag ccggcccttt tgatatggtg tactggacag
      961 gagacatccc cgcacatgat gtctggcacc agactcgtca ggaccaactg cgggccctga
     1021 ccaccgtcac agcacttgtg aggaagttcc tggggccagt gccagtgtac cctgctgtgg
     1081 gtaaccatga aagcacacct gtcaatagct tccctccccc cttcattgag ggcaaccact
     1141 cctcccgctg gctctatgaa gcgatggcca aggcttggga gccctggctg cctgccgaag
     1201 ccctgcgcac cctcagaatt ggggggttct atgctctttc cccatacccc ggtctccgcc
     1261 tcatctctct caatatgaat ttttgttccc gtgagaactt ctggctcttg atcaactcca
     1321 cggatcccgc aggacagctc cagtggctgg tgggggagct tcaggctgct gaggatcgag
     1381 gagacaaagt gcatataatt ggccacattc ccccagggca ctgtctgaag agctggagct
     1441 ggaattatta ccgaattgta gccaggtatg agaacaccct ggctgctcag ttctttggcc
     1501 acactcatgt ggatgaattt gaggtcttct atgatgaaga gactctgagc cggccgctgg
     1561 ctgtagcctt cctggcaccc agtgcaacta cctacatcgg ccttaatcct ggttaccgtg
     1621 tgtaccaaat agatggaaac tactccggga gctctcacgt ggtcctggac catgagacct
     1681 acatcctgaa tctgacccag gcaaacatac cgggagccat accgcactgg cagcttctct
     1741 acagggctcg agaaacctat gggctgccca acacactgcc taccgcctgg cacaacctgg
     1801 tatatcgcat gcggggcgac atgcaacttt tccagacctt ctggtttctc taccataagg
     1861 gccacccacc ctcggagccc tgtggcacgc cctgccgtct ggctactctt tgtgcccagc
     1921 tctctgcccg tgctgacagc cctgctctgt gccgccacct gatgccagat gggagcctcc
     1981 cagaggccca gagcctgtgg ccaaggccac tgttttgcta gggccccagg gcccacattt
     2041 gggaaagttc ttgatgtagg aaagggtgaa aaagcccaaa tgctgctgtg gttcaaccag
     2101 gcaagatcat ccggtgaaag aaccagtccc tgggccccaa ggatgccggg gaaacaggac
     2161 cttctccttt cctggagctg gtttagctgg atatgggagg gggtttggct gcctgtgccc
     2221 aggagctaga ctgccttgag gctgctgtcc tttcacagcc atggagtaga ggcctaagtt
     2281 gacactgccc tgggcagaca agacaggagc tgtcgcccca ggcctgtgct gcccagccag
     2341 gaaccctgta ctgctgctgc gacctgatgc tgccagtctg ttaaaataaa gataagagac
     2401 ttggactcca
//
LOCUS       NM_000545               3442 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens HNF1 homeobox A (HNF1A), transcript variant 2, mRNA.
ACCESSION   NM_000545
VERSION     NM_000545.8
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3442)
  AUTHORS   Weng C, Gu A, Zhang S, Lu L, Ke L, Gao P, Liu X, Wang Y, Hu P,
            Plummer D, MacDonald E, Zhang S, Xi J, Lai S, Leskov K, Yuan K, Jin
            F and Li Y.
  TITLE     Single cell multiomic analysis reveals diabetes-associated beta-cell
            heterogeneity driven by HNF1A
  JOURNAL   Nat Commun 14 (1), 5400 (2023)
   PUBMED   37669939
  REMARK    GeneRIF: Single cell multiomic analysis reveals diabetes-associated
            beta-cell heterogeneity driven by HNF1A. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 3442)
  AUTHORS   Song H, Sontz RA, Vance MJ, Morris JM, Sheriff S, Zhu S, Duan S,
            Zeng J, Koeppe E, Pandey R, Thorne CA, Stoffel EM and Merchant JL.
  TITLE     High-fat diet plus HNF1A variant promotes polyps by activating
            beta-catenin in early-onset colorectal cancer
  JOURNAL   JCI Insight 8 (13), e167163 (2023)
   PUBMED   37219942
  REMARK    GeneRIF: High-fat diet plus HNF1A variant promotes polyps by
            activating beta-catenin in early-onset colorectal cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3442)
  AUTHORS   Kavitha B, Ranganathan S, Gopi S, Vetrivel U, Hemavathy N, Mohan V
            and Radha V.
  TITLE     Molecular characterization and re-interpretation of HNF1A variants
            identified in Indian MODY subjects towards precision medicine
  JOURNAL   Front Endocrinol (Lausanne) 14, 1177268 (2023)
   PUBMED   37396188
  REMARK    GeneRIF: Molecular characterization and re-interpretation of HNF1A
            variants identified in Indian MODY subjects towards precision
            medicine. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3442)
  AUTHORS   Chan JW, Neo CWY, Ghosh S, Choi H, Lim SC, Tai ES and Teo AKK.
  TITLE     HNF1A binds and regulates the expression of SLC51B to facilitate the
            uptake of estrone sulfate in human renal proximal tubule epithelial
            cells
  JOURNAL   Cell Death Dis 14 (5), 302 (2023)
   PUBMED   37137894
  REMARK    GeneRIF: HNF1A binds and regulates the expression of SLC51B to
            facilitate the uptake of estrone sulfate in human renal proximal
            tubule epithelial cells. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3442)
  AUTHORS   Lau HH, Ng NHJ, Loo LSW, Jasmen JB and Teo AKK.
  TITLE     The molecular functions of hepatocyte nuclear factors - In and
            beyond the liver
  JOURNAL   J Hepatol 68 (5), 1033-1048 (2018)
   PUBMED   29175243
  REMARK    Review article
REFERENCE   6  (bases 1 to 3442)
  AUTHORS   Anik,A., Catli,G., Abaci,A. and Bober,E.
  TITLE     Maturity-onset diabetes of the young (MODY): an update
  JOURNAL   J Pediatr Endocrinol Metab 28 (3-4), 251-263 (2015)
   PUBMED   25581748
  REMARK    Review article
REFERENCE   7  (bases 1 to 3442)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   29792621
REFERENCE   8  (bases 1 to 3442)
  AUTHORS   Szpirer C, Riviere M, Cortese R, Nakamura T, Islam MQ, Levan G and
            Szpirer J.
  TITLE     Chromosomal localization in man and rat of the genes encoding the
            liver-enriched transcription factors C/EBP, DBP, and HNF1/LFB-1
            (CEBP, DBP, and transcription factor 1, TCF1, respectively) and of
            the hepatocyte growth factor/scatter factor gene (HGF)
  JOURNAL   Genomics 13 (2), 293-300 (1992)
   PUBMED   1535333
REFERENCE   9  (bases 1 to 3442)
  AUTHORS   Bach I, Mattei MG, Cereghini S and Yaniv M.
  TITLE     Two members of an HNF1 homeoprotein family are expressed in human
            liver
  JOURNAL   Nucleic Acids Res 19 (13), 3553-3559 (1991)
   PUBMED   1677179
REFERENCE   10  (bases 1 to 3442)
  AUTHORS   Bach I, Galcheva-Gargova Z, Mattei MG, Simon-Chazottes D, Guenet JL,
            Cereghini S and Yaniv M.
  TITLE     Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal
            localization of its gene in man and mouse
  JOURNAL   Genomics 8 (1), 155-164 (1990)
   PUBMED   1707031
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.531452.1, M57732.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000257555.11/ ENSP00000257555.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079602.15.
            On Nov 30, 2019 this sequence version replaced NM_000545.7.
            Summary: The protein encoded by this gene is a transcription factor
            required for the expression of several liver-specific genes. The
            encoded protein functions as a homodimer and binds to the inverted
            palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of
            maturity onset diabetes of the young type 3 (MODY3) and also can
            result in the appearance of hepatic adenomas. Alternative splicing
            results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Apr 2015].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3442
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..3442
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="HNF1 homeobox A"
                     /db_xref="GeneID:6927"
                     /db_xref="HGNC:HGNC:11621"
                     /db_xref="MIM:142410"
     misc_feature    11..13
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="upstream in-frame stop codon"
     CDS             227..2122
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     hepatic nuclear factor 1; albumin proximal factor;
                     hepatocyte nuclear factor 1-alpha; transcription factor 1,
                     hepatic; interferon production regulator factor;
                     liver-specific transcription factor LF-B1"
                     /codon_start=1
                     /product="hepatocyte nuclear factor 1-alpha isoform 2"
                     /protein_id="NP_000536.6"
                     /db_xref="CCDS:CCDS9209.1"
                     /db_xref="GeneID:6927"
                     /db_xref="HGNC:HGNC:11621"
                     /db_xref="MIM:142410"
                     /translation="MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLD
                     KGESCGGGRGELAELPNGLGETRGSEDETDDDGEDFTPPILKELENLSPEEAAHQKAVV
                     ETLLQEDPWRVAKMVKSYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRAALY
                     TWYVRKQREVAQQFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQK
                     NPSKEERETLVEECNRAECIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKL
                     AMDTYSGPPPGPGPGPALPAHSSPGLPPPALSPSKVHGVRYGQPATSETAEVPSSSGGP
                     LVTVSTPLHQVSPTGLEPSHSLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQ
                     PQNLIMASLPGVMTIGPGEPASLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTT
                     LQPVQFSQPLHPSYQQPLMPPVQSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGL
                     LPQTMLITDTTNLSALASLTPTKQVFTSDTEASSESGLHTPASQATTLHVPSQDPASIQ
                     HLQPAHRLSASPTVSSSSLVLYQSSDSSNGQSHLLPSNHSVIETFISTQMASSSQ"
     misc_feature    227..319
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2);
                     Region: Dimerization"
     misc_feature    344..469
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    434..436
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P22361; propagated from
                     UniProtKB/Swiss-Prot (P20823.2); phosphorylation site"
     misc_feature    446..448
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P22361; propagated from
                     UniProtKB/Swiss-Prot (P20823.2); phosphorylation site"
     misc_feature    503..505
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P20823.2); phosphorylation site"
     misc_feature    614..622
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2);
                     Region: Interaction with DNA"
     misc_feature    653..673
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2);
                     Region: Interaction with DNA"
     misc_feature    689..700
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2);
                     Region: Interaction with DNA"
     misc_feature    773..841
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    815..841
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2);
                     Region: Nuclear localization signal. /evidence=ECO:0000305"
     misc_feature    833..844
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2);
                     Region: Interaction with DNA"
     misc_feature    965..967
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P20823.2); phosphorylation site"
     misc_feature    1013..1021
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2);
                     Region: Interaction with DNA"
     misc_feature    1034..1045
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2);
                     Region: Interaction with DNA"
     misc_feature    1073..1300
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1163..1165
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P22361; propagated from
                     UniProtKB/Swiss-Prot (P20823.2); phosphorylation site"
     misc_feature    1859..1945
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P20823.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3414..3419
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="hexamer: AGTAAA"
     polyA_site      3442
                     /gene="HNF1A"
                     /gene_synonym="HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A;
                     IDDM20; LFB1; MODY3; TCF-1; TCF1"
                     /note="major polyA site"
ORIGIN
        1 agctccaatg taaacagaac aggcaggggc cctgattcac gggccgctgg ggccagggtt
       61 gggggttggg ggtgcccaca gggcttggct agtggggttt tgggggggca gtgggtgcaa
      121 ggagtttggt ttgtgtctgc cggccggcag gcaaacgcaa cccacgcggt gggggaggcg
      181 gctagcgtgg tggacccggg ccgcgtggcc ctgtggcagc cgagccatgg tttctaaact
      241 gagccagctg cagacggagc tcctggcggc cctgctcgag tcagggctga gcaaagaggc
      301 actgatccag gcactgggtg agccggggcc ctacctcctg gctggagaag gccccctgga
      361 caagggggag tcctgcggcg gcggtcgagg ggagctggct gagctgccca atgggctggg
      421 ggagactcgg ggctccgagg acgagacgga cgacgatggg gaagacttca cgccacccat
      481 cctcaaagag ctggagaacc tcagccctga ggaggcggcc caccagaaag ccgtggtgga
      541 gacccttctg caggaggacc cgtggcgtgt ggcgaagatg gtcaagtcct acctgcagca
      601 gcacaacatc ccacagcggg aggtggtcga taccactggc ctcaaccagt cccacctgtc
      661 ccaacacctc aacaagggca ctcccatgaa gacgcagaag cgggccgccc tgtacacctg
      721 gtacgtccgc aagcagcgag aggtggcgca gcagttcacc catgcagggc agggagggct
      781 gattgaagag cccacaggtg atgagctacc aaccaagaag gggcggagga accgtttcaa
      841 gtggggccca gcatcccagc agatcctgtt ccaggcctat gagaggcaga agaaccctag
      901 caaggaggag cgagagacgc tagtggagga gtgcaatagg gcggaatgca tccagagagg
      961 ggtgtcccca tcacaggcac aggggctggg ctccaacctc gtcacggagg tgcgtgtcta
     1021 caactggttt gccaaccggc gcaaagaaga agccttccgg cacaagctgg ccatggacac
     1081 gtacagcggg ccccccccag ggccaggccc gggacctgcg ctgcccgctc acagctcccc
     1141 tggcctgcct ccacctgccc tctcccccag taaggtccac ggtgtgcgct atggacagcc
     1201 tgcgaccagt gagactgcag aagtaccctc aagcagcggc ggtcccttag tgacagtgtc
     1261 tacacccctc caccaagtgt cccccacggg cctggagccc agccacagcc tgctgagtac
     1321 agaagccaag ctggtctcag cagctggggg ccccctcccc cctgtcagca ccctgacagc
     1381 actgcacagc ttggagcaga catccccagg cctcaaccag cagccccaga acctcatcat
     1441 ggcctcactt cctggggtca tgaccatcgg gcctggtgag cctgcctccc tgggtcctac
     1501 gttcaccaac acaggtgcct ccaccctggt catcggcctg gcctccacgc aggcacagag
     1561 tgtgccggtc atcaacagca tgggcagcag cctgaccacc ctgcagcccg tccagttctc
     1621 ccagccgctg cacccctcct accagcagcc gctcatgcca cctgtgcaga gccatgtgac
     1681 ccagagcccc ttcatggcca ccatggctca gctgcagagc ccccacgccc tctacagcca
     1741 caagcccgag gtggcccagt acacccacac gggcctgctc ccgcagacta tgctcatcac
     1801 cgacaccacc aacctgagcg ccctggccag cctcacgccc accaagcagg tcttcacctc
     1861 agacactgag gcctccagtg agtccgggct tcacacgccg gcatctcagg ccaccaccct
     1921 ccacgtcccc agccaggacc ctgccagcat ccagcacctg cagccggccc accggctcag
     1981 cgccagcccc acagtgtcct ccagcagcct ggtgctgtac cagagctcag actccagcaa
     2041 tggccagagc cacctgctgc catccaacca cagcgtcatc gagaccttca tctccaccca
     2101 gatggcctct tcctcccagt aaccacggca cctgggccct ggggcctgta ctgcctgctt
     2161 ggggggtgat gagggcagca gccagccctg cctggaggac ctgagcctgc cgagcaaccg
     2221 tggcccttcc tggacagctg tgcctcgctc cccactctgc tctgatgcat cagaaaggga
     2281 gggctctgag gcgccccaac ccgtggaggc tgctcggggt gcacaggagg gggtcgtgga
     2341 gagctaggag caaagcctgt tcatggcaga tgtaggaggg actgtcgctg cttcgtggga
     2401 tacagtcttc ttacttggaa ctgaaggggg cggcctatga cttgggcacc cccagcctgg
     2461 gcctatggag agccctggga ccgctacacc actctggcag ccacacttct caggacacag
     2521 gcctgtgtag ctgtgacctg ctgagctctg agaggccctg gatcagcgtg gccttgttct
     2581 gtcaccaatg tacccaccgg gccactcctt cctgccccaa ctccttccag ctagtgaccc
     2641 acatgccatt tgtactgacc ccatcaccta ctcacacagg catttcctgg gtggctactc
     2701 tgtgccagag cctggggctc taacgcctga gcccagggag gccgaagcta acagggaagg
     2761 caggcagggc tctcctggct tcccatcccc agcgattccc tctcccaggc cccatgacct
     2821 ccagctttcc tgtatttgtt cccaagagca tcatgcctct gaggccagcc tggcctcctg
     2881 cctctactgg gaaggctact tcggggctgg gaagtcgtcc ttactcctgt gggagcctcg
     2941 caacccgtgc caagtccagg tcctggtggg gcagctcctc tgtctcgagc gccctgcaga
     3001 ccctgccctt gtttggggca ggagtagctg agctcacaag gcagcaaggc ccgagcagct
     3061 gagcagggcc ggggaactgg ccaagctgag gtgcccagga gaagaaagag gtgaccccag
     3121 ggcacaggag ctacctgtgt ggacaggact aacactcaga agcctggggg cctggctggc
     3181 tgagggcagt tcgcagccac cctgaggagt ctgaggtcct gagcactgcc aggagggaca
     3241 aaggagcctg tgaacccagg acaagcatgg tcccacatcc ctgggcctgc tgctgagaac
     3301 ctggccttca gtgtaccgcg tctaccctgg gattcaggaa aaggcctggg gtgacccggc
     3361 accccctgca gcttgtagcc agccggggcg agtggcacgt ttatttaact tttagtaaag
     3421 tcaaggagaa atgcggtgga aa
//
LOCUS       NM_000546               2512 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens tumor protein p53 (TP53), transcript variant 1, mRNA.
ACCESSION   NM_000546
VERSION     NM_000546.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2512)
  AUTHORS   Mirgayazova R, Khadiullina R, Chasov V, Mingaleeva R, Miftakhova R,
            Rizvanov A and Bulatov E.
  TITLE     Therapeutic Editing of the TP53 Gene: Is CRISPR/Cas9 an Option?
  JOURNAL   Genes (Basel) 11 (6), 704 (2020)
   PUBMED   32630614
  REMARK    GeneRIF: Therapeutic Editing of the TP53 Gene: Is CRISPR/Cas9 an
            Option? Review article Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2512)
  AUTHORS   Flynt E, Bisht K, Sridharan V, Ortiz M, Towfic F and Thakurta A.
  TITLE     Prognosis, Biology, and Targeting of TP53 Dysregulation in Multiple
            Myeloma
  JOURNAL   Cells 9 (2), 287 (2020)
   PUBMED   31991614
  REMARK    Review article Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2512)
  AUTHORS   Barnoud T, Parris JLD and Murphy ME.
  TITLE     Common genetic variants in the TP53 pathway and their impact on
            cancer
  JOURNAL   J Mol Cell Biol 11 (7), 578-585 (2019)
   PUBMED   31152665
  REMARK    GeneRIF: Common genetic variants in the TP53 pathway and their
            impact on cancer. Review article
REFERENCE   4  (bases 1 to 2512)
  AUTHORS   Hu W, Chen S, Thorne RF and Wu M.
  TITLE     TP53, TP53 Target Genes (DRAM, TIGAR), and Autophagy
  JOURNAL   Adv Exp Med Biol 1206, 127-149 (2019)
   PUBMED   31776983
  REMARK    Review article
REFERENCE   5  (bases 1 to 2512)
  AUTHORS   Baugh EH, Ke H, Levine AJ, Bonneau RA and Chan CS.
  TITLE     Why are there hotspot mutations in the TP53 gene in human cancers?
  JOURNAL   Cell Death Differ 25 (1), 154-160 (2018)
   PUBMED   29099487
  REMARK    GeneRIF: TP53 missense mutant alleles that occur in human cancers
            are discussed in the context of high resolution models of these p53
            mutant protein structures to determine the structural features of
            mutations (review). Review article
REFERENCE   6  (bases 1 to 2512)
  AUTHORS   Aubrey BJ, Strasser A and Kelly GL.
  TITLE     Tumor-Suppressor Functions of the TP53 Pathway
  JOURNAL   Cold Spring Harb Perspect Med 6 (5), a026062 (2016)
   PUBMED   27141080
  REMARK    Review article Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2512)
  AUTHORS   Soussi T and Wiman KG.
  TITLE     TP53: an oncogene in disguise
  JOURNAL   Cell Death Differ 22 (8), 1239-1249 (2015)
   PUBMED   26024390
  REMARK    Review article
REFERENCE   8  (bases 1 to 2512)
  AUTHORS   Soussi,T.
  TITLE     The TP53 gene network in a postgenomic era
  JOURNAL   Hum Mutat 35 (6), 641-642 (2014)
   PUBMED   24753184
  REMARK    GeneRIF: Recommendations and guidelines for reporting and annotating
            TP53 variants are also provided, to help researchers generate
            standardized data that are easy to understand, analyze, and exchange
            across various cancer variant databases Review article
REFERENCE   9  (bases 1 to 2512)
  AUTHORS   Anczukow O, Ware MD, Buisson M, Zetoune AB, Stoppa-Lyonnet D,
            Sinilnikova OM and Mazoyer S.
  TITLE     Does the nonsense-mediated mRNA decay mechanism prevent the
            synthesis of truncated BRCA1, CHK2, and p53 proteins?
  JOURNAL   Hum Mutat 29 (1), 65-73 (2008)
   PUBMED   17694537
  REMARK    GeneRIF: the p53 protein encoded by the 770delT allele is as
            abundant as the wild-type protein, as removal of the C-terminal p53
            domain leads to a stabilized mutant protein, whose abundance is
            markedly increased when NMD is inhibited.
REFERENCE   10  (bases 1 to 2512)
  AUTHORS   Bourdon JC.
  TITLE     p53 Family isoforms
  JOURNAL   Curr Pharm Biotechnol 8 (6), 332-336 (2007)
   PUBMED   18289041
  REMARK    Review article
REFERENCE   11  (bases 1 to 2512)
  AUTHORS   Candeias MM, Powell DJ, Roubalova E, Apcher S, Bourougaa K, Vojtesek
            B, Bruzzoni-Giovanelli H and Fahraeus R.
  TITLE     Expression of p53 and p53/47 are controlled by alternative
            mechanisms of messenger RNA translation initiation
  JOURNAL   Oncogene 25 (52), 6936-6947 (2006)
   PUBMED   16983332
  REMARK    GeneRIF: harbouring alternative translation initiation sites, the
            p53 mRNA gives rise to different levels of the p53 isoforms which
            help to orchestrate the cell biological outcome of p53 activation
REFERENCE   12  (bases 1 to 2512)
  AUTHORS   Murray-Zmijewski F, Lane DP and Bourdon JC.
  TITLE     p53/p63/p73 isoforms: an orchestra of isoforms to harmonise cell
            differentiation and response to stress
  JOURNAL   Cell Death Differ 13 (6), 962-972 (2006)
   PUBMED   16601753
  REMARK    Review article
REFERENCE   13  (bases 1 to 2512)
  AUTHORS   Bourdon JC, Fernandes K, Murray-Zmijewski F, Liu G, Diot A,
            Xirodimas DP, Saville MK and Lane DP.
  TITLE     p53 isoforms can regulate p53 transcriptional activity
  JOURNAL   Genes Dev 19 (18), 2122-2137 (2005)
   PUBMED   16131611
  REMARK    GeneRIF: p53 isoforms can regulate p53 transcriptional activity.
REFERENCE   14  (bases 1 to 2512)
  AUTHORS   Ghosh A, Stewart D and Matlashewski G.
  TITLE     Regulation of human p53 activity and cell localization by
            alternative splicing
  JOURNAL   Mol Cell Biol 24 (18), 7987-7997 (2004)
   PUBMED   15340061
  REMARK    GeneRIF: mechanism of p53 regulation originating through alternative
            splicing of the human p53 gene resulting in the expression of a
            novel p53 mRNA
REFERENCE   15  (bases 1 to 2512)
  AUTHORS   Flaman JM, Waridel F, Estreicher A, Vannier A, Limacher JM, Gilbert
            D, Iggo R and Frebourg T.
  TITLE     The human tumour suppressor gene p53 is alternatively spliced in
            normal cells
  JOURNAL   Oncogene 12 (4), 813-818 (1996)
   PUBMED   8632903
REFERENCE   16  (bases 1 to 2512)
  AUTHORS   Schneider,K., Zelley,K., Nichols,K.E. and Garber,J.
  TITLE     Li-Fraumeni Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301488
REFERENCE   17  (bases 1 to 2512)
  AUTHORS   Turner,J.T., Brzezinski,J. and Dome,J.S.
  TITLE     Wilms Tumor Predisposition
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301471
REFERENCE   18  (bases 1 to 2512)
  AUTHORS   Lamb,P. and Crawford,L.
  TITLE     Characterization of the human p53 gene
  JOURNAL   Mol Cell Biol 6 (5), 1379-1385 (1986)
   PUBMED   2946935
REFERENCE   19  (bases 1 to 2512)
  AUTHORS   Isobe,M., Emanuel,B.S., Givol,D., Oren,M. and Croce,C.M.
  TITLE     Localization of gene for human p53 tumour antigen to band 17p13
  JOURNAL   Nature 320 (6057), 84-85 (1986)
   PUBMED   3456488
REFERENCE   20  (bases 1 to 2512)
  AUTHORS   Benchimol,S., Lamb,P., Crawford,L.V., Sheer,D., Shows,T.B.,
            Bruns,G.A. and Peacock,J.
  TITLE     Transformation associated p53 protein is encoded by a gene on human
            chromosome 17
  JOURNAL   Somat Cell Mol Genet 11 (5), 505-510 (1985)
   PUBMED   2994241
REFERENCE   21  (bases 1 to 2512)
  AUTHORS   Harlow,E., Williamson,N.M., Ralston,R., Helfman,D.M. and Adams,T.E.
  TITLE     Molecular cloning and in vitro expression of a cDNA clone for human
            cellular tumor antigen p53
  JOURNAL   Mol Cell Biol 5 (7), 1601-1610 (1985)
   PUBMED   3894933
REFERENCE   22  (bases 1 to 2512)
  AUTHORS   Zakut-Houri,R., Bienz-Tadmor,B., Givol,D. and Oren,M.
  TITLE     Human p53 cellular tumor antigen: cDNA sequence and expression in
            COS cells
  JOURNAL   EMBO J 4 (5), 1251-1255 (1985)
   PUBMED   4006916
REFERENCE   23  (bases 1 to 2512)
  AUTHORS   Matlashewski,G., Lamb,P., Pim,D., Peacock,J., Crawford,L. and
            Benchimol,S.
  TITLE     Isolation and characterization of a human p53 cDNA clone: expression
            of the human p53 gene
  JOURNAL   EMBO J 3 (13), 3257-3262 (1984)
   PUBMED   6396087
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC003596.1, AF307851.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000269305.9/ ENSP00000269305.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA453049.1, X02469.1 and
            AK223026.1.
            On Feb 13, 2020 this sequence version replaced NM_000546.5.
            Summary: This gene encodes a tumor suppressor protein containing
            transcriptional activation, DNA binding, and oligomerization
            domains. The encoded protein responds to diverse cellular stresses
            to regulate expression of target genes, thereby inducing cell cycle
            arrest, apoptosis, senescence, DNA repair, or changes in
            metabolism. Mutations in this gene are associated with a variety of
            human cancers, including hereditary cancers such as Li-Fraumeni
            syndrome. Alternative splicing of this gene and the use of
            alternate promoters result in multiple transcript variants and
            isoforms. Additional isoforms have also been shown to result from
            the use of alternate translation initiation codons from identical
            transcript variants (PMIDs: 12032546, 20937277). [provided by
            RefSeq, Dec 2016].
            Transcript Variant: This variant (1) can initiate translation from
            two in-frame AUG start codons. The isoform represented in this
            variant (a, also known as p53alpha) results from translation
            initiation at the upstream start codon. Both variants 1 and 2
            encode isoform a, which is the longest isoform.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2512
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..2512
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="tumor protein p53"
                     /db_xref="GeneID:7157"
                     /db_xref="HGNC:HGNC:11998"
                     /db_xref="MIM:191170"
     misc_feature    35..37
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="upstream in-frame stop codon"
     CDS             143..1324
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="isoform a is encoded by transcript variant 1; tumor
                     protein 53; mutant tumor protein 53; cellular tumor antigen
                     p53; phosphoprotein p53; transformation-related protein 53;
                     antigen NY-CO-13; tumor supressor p53"
                     /codon_start=1
                     /product="cellular tumor antigen p53 isoform a"
                     /protein_id="NP_000537.3"
                     /db_xref="CCDS:CCDS11118.1"
                     /db_xref="GeneID:7157"
                     /db_xref="HGNC:HGNC:11998"
                     /db_xref="MIM:191170"
                     /translation="MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLML
                     SPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQ
                     GSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIY
                     KQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEP
                     PEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRD
                     RRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEM
                     FRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD"
     misc_feature    143..1102
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Interaction with CCAR2.
                     /evidence=ECO:0000269|PubMed:25732823"
     misc_feature    143..391
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Interaction with HRMT1L2.
                     /evidence=ECO:0000269|PubMed:15186775"
     misc_feature    143..274
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Transcription activation (acidic)"
     misc_feature    167..169
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Phosphoserine, by HIPK4.
                     /evidence=ECO:0000269|PubMed:18022393; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); phosphorylation site"
     misc_feature    185..187
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Phosphoserine, by CDK5, PRPK, AMPK, NUAK1 and ATM.
                     /evidence=ECO:0000269|PubMed:10570149,
                     ECO:0000269|PubMed:11554766, ECO:0000269|PubMed:15866171,
                     ECO:0000269|PubMed:17108107, ECO:0000269|PubMed:17591690,
                     ECO:0000269|PubMed:17967874, ECO:0000269|PubMed:21317932,
                     ECO:0000269|PubMed:28842590; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); phosphorylation site"
     misc_feature    191..217
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: TADI"
     misc_feature    194..196
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Phosphothreonine, by CK1, VRK1 and VRK2.
                     /evidence=ECO:0000269|PubMed:10606744,
                     ECO:0000269|PubMed:10951572, ECO:0000269|PubMed:16704422;
                     propagated from UniProtKB/Swiss-Prot (P04637.4);
                     phosphorylation site"
     misc_feature    200..202
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Phosphoserine, by CHEK2, CK1 and PLK3.
                     /evidence=ECO:0000269|PubMed:10570149,
                     ECO:0000269|PubMed:11447225, ECO:0000269|PubMed:11551930,
                     ECO:0000269|PubMed:12810724, ECO:0000269|PubMed:20041275;
                     propagated from UniProtKB/Swiss-Prot (P04637.4);
                     phosphorylation site"
     misc_feature    239..241
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Phosphoserine, by CDK5 and CDK7.
                     /evidence=ECO:0000269|PubMed:17591690,
                     ECO:0000269|PubMed:9372954; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); phosphorylation site"
     misc_feature    251..253
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Phosphoserine, by MAPKAPK5.
                     /evidence=ECO:0000269|PubMed:17254968; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); phosphorylation site"
     misc_feature    260..262
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="delta40p53alpha; Region: alternative start codon"
     misc_feature    278..280
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Phosphoserine, by CDK5, DYRK2, HIPK2 and PKC/PRKCG.
                     /evidence=ECO:0000269|PubMed:11740489,
                     ECO:0000269|PubMed:11780126, ECO:0000269|PubMed:16377624,
                     ECO:0000269|PubMed:17349958, ECO:0000269|PubMed:17591690;
                     propagated from UniProtKB/Swiss-Prot (P04637.4);
                     phosphorylation site"
     misc_feature    284..310
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: TADII"
     misc_feature    290..430
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    305..307
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Phosphothreonine, by TAF1 and GRK5.
                     /evidence=ECO:0000269|PubMed:15053879,
                     ECO:0000269|PubMed:20124405; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); phosphorylation site"
     misc_feature    338..472
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Interaction with WWOX"
     misc_feature    440..1252
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Interaction with HIPK1. /evidence=ECO:0000250"
     misc_feature    440..1042
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Required for interaction with ZNF385A.
                     /evidence=ECO:0000269|PubMed:17719541"
     misc_feature    479..850
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Required for interaction with FBXO42.
                     /evidence=ECO:0000269|PubMed:19509332"
     misc_feature    488..1018
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Interaction with AXIN1. /evidence=ECO:0000250"
     misc_feature    500..502
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Interaction with DNA.
                     /evidence=ECO:0000269|PubMed:16793544,
                     ECO:0000269|PubMed:18996393, ECO:0000269|PubMed:20364130;
                     propagated from UniProtKB/Swiss-Prot (P04637.4); other
                     site"
     misc_feature    500..502
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="N6-acetyllysine, by KAT6A.
                     /evidence=ECO:0000269|PubMed:23431171; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); acetylation site"
     misc_feature    689..691
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Phosphoserine, by AURKB.
                     /evidence=ECO:0000269|PubMed:20959462; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); phosphorylation site"
     misc_feature    863..886
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Interaction with the 53BP2 SH3 domain"
     misc_feature    908..1024
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Interaction with E4F1.
                     /evidence=ECO:0000269|PubMed:10644996"
     misc_feature    947..949
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Phosphoserine, by AURKB.
                     /evidence=ECO:0000269|PubMed:20959462; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); phosphorylation site"
     misc_feature    959..982
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Interaction with DNA"
     misc_feature    986..1117
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    992..994
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Phosphothreonine, by AURKB.
                     /evidence=ECO:0000269|PubMed:20959462; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); phosphorylation site"
     misc_feature    1040..1321
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Interaction with CARM1.
                     /evidence=ECO:0000269|PubMed:15186775"
     misc_feature    1055..1105
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Bipartite nuclear localization signal"
     misc_feature    1055..1057
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:12724314; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); acetylation site"
     misc_feature    1085..1087
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Phosphoserine, by AURKA, CDK1 and CDK2.
                     /evidence=ECO:0000269|PubMed:10884347,
                     ECO:0000269|PubMed:14702041; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); phosphorylation site"
     misc_feature    1097..1222
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Interaction with HIPK2"
     misc_feature    1103..1105
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P02340; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); acetylation site"
     misc_feature    1115..1210
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Oligomerization"
     misc_feature    1139..1141
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Omega-N-methylarginine, by PRMT5.
                     /evidence=ECO:0000269|PubMed:19011621; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); methylation site"
     misc_feature    1145..1147
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Symmetric dimethylarginine, by PRMT5.
                     /evidence=ECO:0000269|PubMed:19011621; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); methylation site"
     misc_feature    1151..1153
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Symmetric dimethylarginine, by PRMT5.
                     /evidence=ECO:0000269|PubMed:19011621; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); methylation site"
     misc_feature    1157..1192
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Nuclear export signal"
     misc_feature    1193..1321
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1217..1231
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Interaction with USP7"
     misc_feature    1244..1303
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Basic (repression of DNA-binding)"
     misc_feature    1250..1258
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: [KR]-[STA]-K motif"
     misc_feature    1250..1252
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17108971,
                     ECO:0000269|PubMed:22864287; N6-methyllysine, by SMYD2,
                     alternate. /evidence=ECO:0000269|PubMed:17108971,
                     ECO:0000269|PubMed:22864287; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); methylation site"
     misc_feature    1256..1258
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="N6-methyllysine, by SETD7.
                     /evidence=ECO:0000269|PubMed:15525938,
                     ECO:0000269|PubMed:16415881; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); methylation site"
     misc_feature    1259..1261
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="N6,N6-dimethyllysine, by EHMT1 and EHMT2, alternate.
                     /evidence=ECO:0000269|PubMed:20118233; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); methylation site"
     misc_feature    1259..1261
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:10656795; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); acetylation site"
     misc_feature    1262..1321
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="propagated from UniProtKB/Swiss-Prot (P04637.4);
                     Region: Interaction with MORN3.
                     /evidence=ECO:0000269|PubMed:29681526"
     misc_feature    1283..1285
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:29474172,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); acetylation site"
     misc_feature    1286..1288
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17707234,
                     ECO:0000269|PubMed:20870725, ECO:0000269|PubMed:22864287;
                     N6-methyllysine, by KMT5A, alternate.
                     /evidence=ECO:0000269|PubMed:17707234,
                     ECO:0000269|PubMed:20870725, ECO:0000269|PubMed:22864287;
                     propagated from UniProtKB/Swiss-Prot (P04637.4);
                     methylation site"
     misc_feature    1286..1288
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="N6-acetyllysine, by KAT6A, alternate.
                     /evidence=ECO:0000269|PubMed:10656795,
                     ECO:0000269|PubMed:15448695, ECO:0000269|PubMed:20228809,
                     ECO:0000269|PubMed:23431171, ECO:0000269|PubMed:29681526,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P04637.4); acetylation site"
     misc_feature    1316..1318
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="Phosphoserine, by CK2, CDK2 and NUAK1.
                     /evidence=ECO:0000269|PubMed:10884347,
                     ECO:0000269|PubMed:11239457, ECO:0000269|PubMed:17108107,
                     ECO:0000269|PubMed:21317932, ECO:0000269|PubMed:22214662;
                     propagated from UniProtKB/Swiss-Prot (P04637.4);
                     phosphorylation site"
     regulatory      2495..2500
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="hexamer: AATAAA"
     polyA_site      2512
                     /gene="TP53"
                     /gene_synonym="BCC7; BMFS5; LFS1; P53; TRP53"
                     /note="major polyA site"
ORIGIN
        1 ctcaaaagtc tagagccacc gtccagggag caggtagctg ctgggctccg gggacacttt
       61 gcgttcgggc tgggagcgtg ctttccacga cggtgacacg cttccctgga ttggcagcca
      121 gactgccttc cgggtcactg ccatggagga gccgcagtca gatcctagcg tcgagccccc
      181 tctgagtcag gaaacatttt cagacctatg gaaactactt cctgaaaaca acgttctgtc
      241 ccccttgccg tcccaagcaa tggatgattt gatgctgtcc ccggacgata ttgaacaatg
      301 gttcactgaa gacccaggtc cagatgaagc tcccagaatg ccagaggctg ctccccccgt
      361 ggcccctgca ccagcagctc ctacaccggc ggcccctgca ccagccccct cctggcccct
      421 gtcatcttct gtcccttccc agaaaaccta ccagggcagc tacggtttcc gtctgggctt
      481 cttgcattct gggacagcca agtctgtgac ttgcacgtac tcccctgccc tcaacaagat
      541 gttttgccaa ctggccaaga cctgccctgt gcagctgtgg gttgattcca cacccccgcc
      601 cggcacccgc gtccgcgcca tggccatcta caagcagtca cagcacatga cggaggttgt
      661 gaggcgctgc ccccaccatg agcgctgctc agatagcgat ggtctggccc ctcctcagca
      721 tcttatccga gtggaaggaa atttgcgtgt ggagtatttg gatgacagaa acacttttcg
      781 acatagtgtg gtggtgccct atgagccgcc tgaggttggc tctgactgta ccaccatcca
      841 ctacaactac atgtgtaaca gttcctgcat gggcggcatg aaccggaggc ccatcctcac
      901 catcatcaca ctggaagact ccagtggtaa tctactggga cggaacagct ttgaggtgcg
      961 tgtttgtgcc tgtcctggga gagaccggcg cacagaggaa gagaatctcc gcaagaaagg
     1021 ggagcctcac cacgagctgc ccccagggag cactaagcga gcactgccca acaacaccag
     1081 ctcctctccc cagccaaaga agaaaccact ggatggagaa tatttcaccc ttcagatccg
     1141 tgggcgtgag cgcttcgaga tgttccgaga gctgaatgag gccttggaac tcaaggatgc
     1201 ccaggctggg aaggagccag gggggagcag ggctcactcc agccacctga agtccaaaaa
     1261 gggtcagtct acctcccgcc ataaaaaact catgttcaag acagaagggc ctgactcaga
     1321 ctgacattct ccacttcttg ttccccactg acagcctccc acccccatct ctccctcccc
     1381 tgccattttg ggttttgggt ctttgaaccc ttgcttgcaa taggtgtgcg tcagaagcac
     1441 ccaggacttc catttgcttt gtcccggggc tccactgaac aagttggcct gcactggtgt
     1501 tttgttgtgg ggaggaggat ggggagtagg acataccagc ttagatttta aggtttttac
     1561 tgtgagggat gtttgggaga tgtaagaaat gttcttgcag ttaagggtta gtttacaatc
     1621 agccacattc taggtagggg cccacttcac cgtactaacc agggaagctg tccctcactg
     1681 ttgaattttc tctaacttca aggcccatat ctgtgaaatg ctggcatttg cacctacctc
     1741 acagagtgca ttgtgagggt taatgaaata atgtacatct ggccttgaaa ccacctttta
     1801 ttacatgggg tctagaactt gacccccttg agggtgcttg ttccctctcc ctgttggtcg
     1861 gtgggttggt agtttctaca gttgggcagc tggttaggta gagggagttg tcaagtctct
     1921 gctggcccag ccaaaccctg tctgacaacc tcttggtgaa ccttagtacc taaaaggaaa
     1981 tctcacccca tcccacaccc tggaggattt catctcttgt atatgatgat ctggatccac
     2041 caagacttgt tttatgctca gggtcaattt cttttttctt tttttttttt ttttttcttt
     2101 ttctttgaga ctgggtctcg ctttgttgcc caggctggag tggagtggcg tgatcttggc
     2161 ttactgcagc ctttgcctcc ccggctcgag cagtcctgcc tcagcctccg gagtagctgg
     2221 gaccacaggt tcatgccacc atggccagcc aacttttgca tgttttgtag agatggggtc
     2281 tcacagtgtt gcccaggctg gtctcaaact cctgggctca ggcgatccac ctgtctcagc
     2341 ctcccagagt gctgggatta caattgtgag ccaccacgtc cagctggaag ggtcaacatc
     2401 ttttacattc tgcaagcaca tctgcatttt caccccaccc ttcccctcct tctccctttt
     2461 tatatcccat ttttatatcg atctcttatt ttacaataaa actttgctgc ca
//
LOCUS       NM_000548               6415 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens TSC complex subunit 2 (TSC2), transcript variant 1,
            mRNA.
ACCESSION   NM_000548
VERSION     NM_000548.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6415)
  AUTHORS   Capik O, Gumus R and Karatas OF.
  TITLE     Hypoxia-induced tumor exosomes promote angiogenesis through
            miR-1825/TSC2/mTOR axis in oral squamous cell carcinoma
  JOURNAL   Head Neck 45 (9), 2259-2273 (2023)
   PUBMED   37449548
  REMARK    GeneRIF: Hypoxia-induced tumor exosomes promote angiogenesis through
            miR-1825/TSC2/mTOR axis in oral squamous cell carcinoma.
REFERENCE   2  (bases 1 to 6415)
  AUTHORS   Fu W and Wu G.
  TITLE     Design of negative-regulating proteins of Rheb/mTORC1 with
            much-reduced sizes of the tuberous sclerosis protein complex
  JOURNAL   Protein Sci 32 (8), e4731 (2023)
   PUBMED   37462942
  REMARK    GeneRIF: Design of negative-regulating proteins of Rheb/mTORC1 with
            much-reduced sizes of the tuberous sclerosis protein complex.
REFERENCE   3  (bases 1 to 6415)
  AUTHORS   Kim SH, Kwon SS, Park MR, Lee HA, Kim JH, Cha J, Kim S, Baek ST, Kim
            SH, Lee JS, Kim HD, Choi JR, Lee ST and Kang HC.
  TITLE     Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of
            NF1, TSC2, and AKT3 Genes from Blood in Patients with
            Neurodevelopmental Disorders
  JOURNAL   J Mol Diagn 25 (8), 583-591 (2023)
   PUBMED   37088138
  REMARK    GeneRIF: Detecting Low-Variant Allele Frequency Mosaic Pathogenic
            Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with
            Neurodevelopmental Disorders.
REFERENCE   4  (bases 1 to 6415)
  AUTHORS   He J, Liu S, Guo X, Zhang F, Fan Y, Wu L, Takiff HE and Zhao Y.
  TITLE     Association of PI3K/AKT/mTOR pathway autophagy-related gene
            polymorphisms with pulmonary tuberculosis susceptibility in a
            Chinese population
  JOURNAL   Rev Soc Bras Med Trop 56, e01042023 (2023)
   PUBMED   37493735
  REMARK    GeneRIF: Association of PI3K/AKT/mTOR pathway autophagy-related gene
            polymorphisms with pulmonary tuberculosis susceptibility in a
            Chinese population. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6415)
  AUTHORS   Kumari A, Gesumaria L, Liu YJ, Hughitt VK, Zhang X, Ceribelli M,
            Wilson KM, Klumpp-Thomas C, Chen L, McKnight C, Itkin Z, Thomas CJ,
            Mock BA, Schrump DS and Chen H.
  TITLE     mTOR inhibition overcomes RSK3-mediated resistance to BET inhibitors
            in small cell lung cancer
  JOURNAL   JCI Insight 8 (5), e156657 (2023)
   PUBMED   36883564
  REMARK    GeneRIF: mTOR inhibition overcomes RSK3-mediated resistance to BET
            inhibitors in small cell lung cancer. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 6415)
  AUTHORS   Kumar A, Wolpert C, Kandt RS, Segal J, Pufky J, Roses AD,
            Pericak-Vance MA and Gilbert JR.
  TITLE     A de novo frame-shift mutation in the tuberin gene
  JOURNAL   Hum Mol Genet 4 (8), 1471-1472 (1995)
   PUBMED   7581393
REFERENCE   7  (bases 1 to 6415)
  AUTHORS   Xu L, Sterner C, Maheshwar MM, Wilson PJ, Nellist M, Short PM,
            Haines JL, Sampson JR and Ramesh V.
  TITLE     Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in
            human and mouse tissues
  JOURNAL   Genomics 27 (3), 475-480 (1995)
   PUBMED   7558029
REFERENCE   8  (bases 1 to 6415)
  AUTHORS   Northrup,H., Koenig,M.K., Pearson,D.A. and Au,K.S.
  TITLE     Tuberous Sclerosis Complex
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301399
REFERENCE   9  (bases 1 to 6415)
  AUTHORS   Kandt RS, Haines JL, Smith M, Northrup H, Gardner RJ, Short MP,
            Dumars K, Roach ES, Steingold S, Wall S et al.
  TITLE     Linkage of an important gene locus for tuberous sclerosis to a
            chromosome 16 marker for polycystic kidney disease
  JOURNAL   Nat Genet 2 (1), 37-41 (1992)
   PUBMED   1303246
REFERENCE   10  (bases 1 to 6415)
  AUTHORS   Webb DW and Osborne JP.
  TITLE     Non-penetrance in tuberous sclerosis
  JOURNAL   J Med Genet 28 (6), 417-419 (1991)
   PUBMED   1870099
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: X75621.1, LC224284.1 [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000219476.9/ ENSP00000219476.3
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC402106.1, AK299343.1,
            X75621.1, AK295672.1, CA427637.1 and AC093513.3.
            On Nov 23, 2018 this sequence version replaced NM_000548.4.
            Summary: This gene is a tumor suppressor gene that encodes the
            growth inhibitory protein tuberin. Tuberin interacts with hamartin
            to form the TSC protein complex which functions in the control of
            cell growth. This TSC protein complex negatively regulates
            mammalian target of rapamycin complex 1 (mTORC1) signaling which is
            a major regulator of anabolic cell growth. Mutations in this gene
            have been associated with tuberous sclerosis and
            lymphangioleiomyomatosis. [provided by RefSeq, May 2022].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6415
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..6415
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="TSC complex subunit 2"
                     /db_xref="GeneID:7249"
                     /db_xref="HGNC:HGNC:12363"
                     /db_xref="MIM:191092"
     CDS             111..5534
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     tuberin; tuberous sclerosis 2 protein; protein phosphatase
                     1, regulatory subunit 160"
                     /codon_start=1
                     /product="tuberin isoform 1"
                     /protein_id="NP_000539.2"
                     /db_xref="CCDS:CCDS10458.1"
                     /db_xref="GeneID:7249"
                     /db_xref="HGNC:HGNC:12363"
                     /db_xref="MIM:191092"
                     /translation="MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEIL
                     RELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLAL
                     LKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADF
                     VLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVL
                     DAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLME
                     DRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVL
                     SITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNE
                     FHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESR
                     GAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAE
                     GCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLY
                     TLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKD
                     GVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLL
                     QCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGA
                     PEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICS
                     VEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAI
                     SLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEK
                     DSFRARSTSLNERPKSLRIARPPKQGLNNSPPVKEFKESSAAEAFRCRSISVSEHVVRS
                     RIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVG
                     EFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKE
                     APAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKP
                     EKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINN
                     MPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTVASFSSLYQSSCQ
                     GQLHRSVSWADSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQE
                     EKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPG
                     DKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGY
                     TISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILL
                     PNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLG
                     RLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKK
                     RHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDT
                     SVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICE
                     EAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV"
     misc_feature    111..1310
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P49815.2);
                     Region: Required for interaction with TSC1"
     misc_feature    1728..1730
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:18308511; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     misc_feature    2073..2138
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P49815.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2100..2102
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:18308511; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     misc_feature    2889..2891
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     misc_feature    2898..3002
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P49815.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2925..2927
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine, by PKB/AKT1.
                     /evidence=ECO:0000269|PubMed:12150915,
                     ECO:0000269|PubMed:18308511; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     misc_feature    3051..3053
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     misc_feature    3357..3506
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P49815.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3504..3506
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     misc_feature    3558..3632
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P49815.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3573..3575
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     misc_feature    3921..3923
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphothreonine, by AMPK.
                     /evidence=ECO:0000269|PubMed:14651849; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     misc_feature    4101..4166
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P49815.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4119..4121
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     misc_feature    4122..4124
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     misc_feature    4146..4148
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     misc_feature    4200..4574
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P49815.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4200..4202
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     misc_feature    4269..4271
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine, by AMPK.
                     /evidence=ECO:0000269|PubMed:14651849,
                     ECO:0000269|PubMed:15963462, ECO:0007744|PubMed:18669648;
                     propagated from UniProtKB/Swiss-Prot (P49815.2);
                     phosphorylation site"
     misc_feature    4341..4343
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P49815.2);
                     phosphorylation site"
     misc_feature    4362..4364
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15963462; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     misc_feature    4368..4370
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15963462,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P49815.2);
                     phosphorylation site"
     misc_feature    4464..4466
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     misc_feature    4494..4496
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphothreonine, by PKB/AKT1.
                     /evidence=ECO:0000269|PubMed:12150915,
                     ECO:0000269|PubMed:18308511, ECO:0007744|PubMed:19690332;
                     propagated from UniProtKB/Swiss-Prot (P49815.2);
                     phosphorylation site"
     misc_feature    5400..5402
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61037; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     misc_feature    5403..5489
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P49815.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5502..5504
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine, by RPS6KA1.
                     /evidence=ECO:0000269|PubMed:15342917,
                     ECO:0000269|PubMed:18308511, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     misc_feature    5505..5507
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49815.2); phosphorylation site"
     regulatory      5591..5596
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="hexamer: AATAAA"
     polyA_site      5636
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="major polyA site"
     polyA_site      5667
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
     regulatory      6388..6393
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
                     /note="hexamer: AATAAA"
     polyA_site      6415
                     /gene="TSC2"
                     /gene_synonym="LAM; PPP1R160; TSC4"
ORIGIN
        1 gcttccggcg gcgtcccggg gccagggggg tgcgcctttc tccgcgtcgg ggcggcccgg
       61 agcgcggtgg cgcggcgcgg gaggggtttt ctggtgcgtc ctggtccacc atggccaaac
      121 caacaagcaa agattcaggc ttgaaggaga agtttaagat tctgttggga ctgggaacac
      181 cgaggccaaa tcccaggtct gcagagggta aacagacgga gtttatcatc accgcggaaa
      241 tactgagaga actgagcatg gaatgtggcc tcaacaatcg catccggatg atagggcaga
      301 tttgtgaagt cgcaaaaacc aagaaatttg aagagcacgc agtggaagca ctctggaagg
      361 cggtcgcgga tctgttgcag ccggagcggc cgctggaggc ccggcacgcg gtgctggctc
      421 tgctgaaggc catcgtgcag gggcagggcg agcgtttggg ggtcctcaga gccctcttct
      481 ttaaggtcat caaggattac ccttccaacg aagaccttca cgaaaggctg gaggttttca
      541 aggccctcac agacaatggg agacacatca cctacttgga ggaagagctg gctgactttg
      601 tcctgcagtg gatggatgtt ggcttgtcct cggaattcct tctggtgctg gtgaacttgg
      661 tcaaattcaa tagctgttac ctcgacgagt acatcgcaag gatggttcag atgatctgtc
      721 tgctgtgcgt ccggaccgcg tcctctgtgg acatagaggt ctccctgcag gtgctggacg
      781 ccgtggtctg ctacaactgc ctgccggctg agagcctccc gctgttcatc gttaccctct
      841 gtcgcaccat caacgtcaag gagctctgcg agccttgctg gaagctgatg cggaacctcc
      901 ttggcaccca cctgggccac agcgccatct acaacatgtg ccacctcatg gaggacagag
      961 cctacatgga ggacgcgccc ctgctgagag gagccgtgtt ttttgtgggc atggctctct
     1021 ggggagccca ccggctctat tctctcagga actcgccgac atctgtgttg ccatcatttt
     1081 accaggccat ggcatgtccg aacgaggtgg tgtcctatga gatcgtcctg tccatcacca
     1141 ggctcatcaa gaagtatagg aaggagctcc aggtggtggc gtgggacatt ctgctgaaca
     1201 tcatcgaacg gctccttcag cagctccaga ccttggacag cccggagctc aggaccatcg
     1261 tccatgacct gttgaccacg gtggaggagc tgtgtgacca gaacgagttc cacgggtctc
     1321 aggagagata ctttgaactg gtggagagat gtgcggacca gaggcctgag tcctccctcc
     1381 tgaacctgat ctcctataga gcgcagtcca tccacccggc caaggacggc tggattcaga
     1441 acctgcaggc gctgatggag agattcttca ggagcgagtc ccgaggcgcc gtgcgcatca
     1501 aggtgctgga cgtgctgtcc tttgtgctgc tcatcaacag gcagttctat gaggaggagc
     1561 tgattaactc agtggtcatc tcgcagctct cccacatccc cgaggataaa gaccaccagg
     1621 tccgaaagct ggccacccag ttgctggtgg acctggcaga gggctgccac acacaccact
     1681 tcaacagcct gctggacatc atcgagaagg tgatggcccg ctccctctcc ccacccccgg
     1741 agctggaaga aagggatgtg gccgcatact cggcctcctt ggaggatgtg aagacagccg
     1801 tcctggggct tctggtcatc cttcagacca agctgtacac cctgcctgca agccacgcca
     1861 cgcgtgtgta tgagatgctg gtcagccaca ttcagctcca ctacaagcac agctacaccc
     1921 tgccaatcgc gagcagcatc cggctgcagg cctttgactt cctgttgctg ctgcgggccg
     1981 actcactgca ccgcctgggc ctgcccaaca aggatggagt cgtgcggttc agcccctact
     2041 gcgtctgcga ctacatggag ccagagagag gctctgagaa gaagaccagc ggcccccttt
     2101 ctcctcccac agggcctcct ggcccggcgc ctgcaggccc cgccgtgcgg ctggggtccg
     2161 tgccctactc cctgctcttc cgcgtcctgc tgcagtgctt gaagcaggag tctgactgga
     2221 aggtgctgaa gctggttctg ggcaggctgc ctgagtccct gcgctataaa gtgctcatct
     2281 ttacttcccc ttgcagtgtg gaccagctgt gctctgctct ctgctccatg ctttcaggcc
     2341 caaagacact ggagcggctc cgaggcgccc cagaaggctt ctccagaact gacttgcacc
     2401 tggccgtggt tccagtgctg acagcattaa tctcttacca taactacctg gacaaaacca
     2461 aacagcgcga gatggtctac tgcctggagc agggcctcat ccaccgctgt gccagccagt
     2521 gcgtcgtggc cttgtccatc tgcagcgtgg agatgcctga catcatcatc aaggcgctgc
     2581 ctgttctggt ggtgaagctc acgcacatct cagccacagc cagcatggcc gtcccactgc
     2641 tggagttcct gtccactctg gccaggctgc cgcacctcta caggaacttt gccgcggagc
     2701 agtatgccag tgtgttcgcc atctccctgc cgtacaccaa cccctccaag tttaatcagt
     2761 acatcgtgtg tctggcccat cacgtcatag ccatgtggtt catcaggtgc cgcctgccct
     2821 tccggaagga ttttgtccct ttcatcacta agggcctgcg gtccaatgtc ctcttgtctt
     2881 ttgatgacac ccccgagaag gacagcttca gggcccggag tactagtctc aacgagagac
     2941 ccaagagtct gaggatagcc agacccccca aacaaggctt gaataactct ccacccgtga
     3001 aagaattcaa ggagagctct gcagccgagg ccttccggtg ccgcagcatc agtgtgtctg
     3061 aacatgtggt ccgcagcagg atacagacgt ccctcaccag tgccagcttg gggtctgcag
     3121 atgagaactc cgtggcccag gctgacgata gcctgaaaaa cctccacctg gagctcacgg
     3181 aaacctgtct ggacatgatg gctcgatacg tcttctccaa cttcacggct gtcccgaaga
     3241 ggtctcctgt gggcgagttc ctcctagcgg gtggcaggac caaaacctgg ctggttggga
     3301 acaagcttgt cactgtgacg acaagcgtgg gaaccgggac ccggtcgtta ctaggcctgg
     3361 actcggggga gctgcagtcc ggcccggagt cgagctccag ccccggggtg catgtgagac
     3421 agaccaagga ggcgccggcc aagctggagt cccaggctgg gcagcaggtg tcccgtgggg
     3481 cccgggatcg ggtccgttcc atgtcggggg gccatggtct tcgagttggc gccctggacg
     3541 tgccggcctc ccagttcctg ggcagtgcca cttctccagg accacggact gcaccagccg
     3601 cgaaacctga gaaggcctca gctggcaccc gggttcctgt gcaggagaag acgaacctgg
     3661 cggcctatgt gcccctgctg acccagggct gggcggagat cctggtccgg aggcccacag
     3721 ggaacaccag ctggctgatg agcctggaga acccgctcag ccctttctcc tcggacatca
     3781 acaacatgcc cctgcaggag ctgtctaacg ccctcatggc ggctgagcgc ttcaaggagc
     3841 accgggacac agccctgtac aagtcactgt cggtgccggc agccagcacg gccaaacccc
     3901 ctcctctgcc tcgctccaac acagtggcct ctttctcctc cctgtaccag tccagctgcc
     3961 aaggacagct gcacaggagc gtttcctggg cagactccgc cgtggtcatg gaggagggaa
     4021 gtccgggcga ggttcctgtg ctggtggagc ccccagggtt ggaggacgtt gaggcagcgc
     4081 taggcatgga caggcgcacg gatgcctaca gcaggtcgtc ctcagtctcc agccaggagg
     4141 agaagtcgct ccacgcggag gagctggttg gcaggggcat ccccatcgag cgagtcgtct
     4201 cctcggaggg tggccggccc tctgtggacc tctccttcca gccctcgcag cccctgagca
     4261 agtccagctc ctctcccgag ctgcagactc tgcaggacat cctcggggac cctggggaca
     4321 aggccgacgt gggccggctg agccctgagg ttaaggcccg gtcacagtca gggaccctgg
     4381 acggggaaag tgctgcctgg tcggcctcgg gcgaagacag tcggggccag cccgagggtc
     4441 ccttgccttc cagctccccc cgctcgccca gtggcctccg gccccgaggt tacaccatct
     4501 ccgactcggc cccatcacgc aggggcaaga gagtagagag ggacgcctta aagagcagag
     4561 ccacagcctc caatgcagag aaagtgccag gcatcaaccc cagtttcgtg ttcctgcagc
     4621 tctaccattc ccccttcttt ggcgacgagt caaacaagcc aatcctgctg cccaatgagt
     4681 cacagtcctt tgagcggtcg gtgcagctcc tcgaccagat cccatcatac gacacccaca
     4741 agatcgccgt cctgtatgtt ggagaaggcc agagcaacag cgagctcgcc atcctgtcca
     4801 atgagcatgg ctcctacagg tacacggagt tcctgacggg cctgggccgg ctcatcgagc
     4861 tgaaggactg ccagccggac aaggtgtacc tgggaggcct ggacgtgtgt ggtgaggacg
     4921 gccagttcac ctactgctgg cacgatgaca tcatgcaagc cgtcttccac atcgccaccc
     4981 tgatgcccac caaggacgtg gacaagcacc gctgcgacaa gaagcgccac ctgggcaacg
     5041 actttgtgtc cattgtctac aatgactccg gtgaggactt caagcttggc accatcaagg
     5101 gccagttcaa ctttgtccac gtgatcgtca ccccgctgga ctacgagtgc aacctggtgt
     5161 ccctgcagtg caggaaagac atggagggcc ttgtggacac cagcgtggcc aagatcgtgt
     5221 ctgaccgcaa cctgcccttc gtggcccgcc agatggccct gcacgcaaat atggcctcac
     5281 aggtgcatca tagccgctcc aaccccaccg atatctaccc ctccaagtgg attgcccggc
     5341 tccgccacat caagcggctc cgccagcgga tctgcgagga agccgcctac tccaacccca
     5401 gcctacctct ggtgcaccct ccgtcccata gcaaagcccc tgcacagact ccagccgagc
     5461 ccacacctgg ctatgaggtg ggccagcgga agcgcctcat ctcctcggtg gaggacttca
     5521 ccgagtttgt gtgaggccgg ggccctccct cctgcactgg ccttggacgg tattgcctgt
     5581 cagtgaaata aataaagtcc tgaccccagt gcacagacat agaggcacag attgcagtca
     5641 gacagctctt ttattgactt tgtctgcttg gtgcgggggt tgggggggtg tcgaggctct
     5701 agaagcggcc atgcccacag aagtggtaca cagaagcagg cacagccagc tccgagggcc
     5761 ttgaggctgc ctgggccata cagcacactc gcgcgtgcgc gcgcgcacac acacacacac
     5821 acagtcacct tcctccaccc tgggagccag cccccaggag gagtcttttc ctctaaccac
     5881 cctggggtcc tctgacatgc ctagtcctgc tacttgccca gacctgatgc cagcaggcct
     5941 gggcgctgct ctcttgctac ctggcctggg gcaagggagg atgacaaggc ctctggggtg
     6001 atgagagtgc ctggcagaca gctgtgcccc cagcaccggc ccaaggccaa gctcgcatcc
     6061 aagcagcagc cgggctgcca taacgccacc acacctacca agcgcagcag gtgttggggg
     6121 aggccagctc tgggcgcagg cccctcagcc ctagtgaaaa tagtgacata caaaaatata
     6181 cacattttaa caccatataa attactgaca cgagacacac agtgagacgg tgcagggagt
     6241 acggtaggaa ctggagaggt aataacttag gggcagggtg gcggcggtgc aggctaaccc
     6301 tccctgaagc cagcagcctt agcagtgggg gacatctgcc cagggggtgg ggccgggcac
     6361 agcccgctgt acctgaggac tcggggaaat aaattagcat ctcagaggct agaaa
//
LOCUS       NM_000549                528 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens thyroid stimulating hormone subunit beta (TSHB),
            transcript variant 1, mRNA.
ACCESSION   NM_000549
VERSION     NM_000549.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 528)
  AUTHORS   Mezei M, Baliram R, Ali MR, Zaidi M, Davies TF and Latif R.
  TITLE     The Human TSHbeta Subunit Proteins and Their Binding Sites on the
            TSH Receptor Using Molecular Dynamics Simulation
  JOURNAL   Endocrinology 161 (9) (2020)
   PUBMED   32738139
  REMARK    GeneRIF: The Human TSHbeta Subunit Proteins and Their Binding Sites
            on the TSH Receptor Using Molecular Dynamics Simulation.
REFERENCE   2  (bases 1 to 528)
  AUTHORS   Zhou W, Brumpton B, Kabil O, Gudmundsson J, Thorleifsson G,
            Weinstock J, Zawistowski M, Nielsen JB, Chaker L, Medici M, Teumer
            A, Naitza S, Sanna S, Schultheiss UT, Cappola A, Karjalainen J,
            Kurki M, Oneka M, Taylor P, Fritsche LG, Graham SE, Wolford BN,
            Overton W, Rasheed H, Haug EB, Gabrielsen ME, Skogholt AH, Surakka
            I, Davey Smith G, Pandit A, Roychowdhury T, Hornsby WE, Jonasson JG,
            Senter L, Liyanarachchi S, Ringel MD, Xu L, Kiemeney LA, He H,
            Netea-Maier RT, Mayordomo JI, Plantinga TS, Hrafnkelsson J,
            Hjartarson H, Sturgis EM, Palotie A, Daly M, Citterio CE, Arvan P,
            Brummett CM, Boehnke M, de la Chapelle A, Stefansson K, Hveem K,
            Willer CJ and Asvold BO.
  TITLE     GWAS of thyroid stimulating hormone highlights pleiotropic effects
            and inverse association with thyroid cancer
  JOURNAL   Nat Commun 11 (1), 3981 (2020)
   PUBMED   32769997
  REMARK    GeneRIF: GWAS of thyroid stimulating hormone highlights pleiotropic
            effects and inverse association with thyroid cancer. Erratum:[Nat
            Commun. 2021 Dec 16;12(1):7354. PMID: 34916535] Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 528)
  AUTHORS   Kovanicova Z, Kurdiova T, Balaz M, Stefanicka P, Varga L, Kulterer
            OC, Betz MJ, Haug AR, Burger IA, Kiefer FW, Wolfrum C, Ukropcova B
            and Ukropec J.
  TITLE     Cold Exposure Distinctively Modulates Parathyroid and Thyroid
            Hormones in Cold-Acclimatized and Non-Acclimatized Humans
  JOURNAL   Endocrinology 161 (7) (2020)
   PUBMED   32242612
  REMARK    GeneRIF: Cold Exposure Distinctively Modulates Parathyroid and
            Thyroid Hormones in Cold-Acclimatized and Non-Acclimatized Humans.
REFERENCE   4  (bases 1 to 528)
  AUTHORS   Liu C, Li L, Ying F, Xu C, Zang X and Gao Z.
  TITLE     A newly identified TSHbeta splice variant is involved in the
            pathology of Hashimoto's thyroiditis
  JOURNAL   Mol Biol Rep 39 (12), 10019-10030 (2012)
   PUBMED   22752807
  REMARK    GeneRIF: In Hashimoto's thyroiditis the hTSHbeta splice variant
            exists in human serum and dimerises with TSHalpha.
REFERENCE   5  (bases 1 to 528)
  AUTHORS   Schaefer JS and Klein JR.
  TITLE     A novel thyroid stimulating hormone beta-subunit isoform in human
            pituitary, peripheral blood leukocytes, and thyroid
  JOURNAL   Gen Comp Endocrinol 162 (3), 241-244 (2009)
   PUBMED   19364510
  REMARK    GeneRIF: Human pituitary, thyroid, and mononuclear leukocytes
            express a TSHbeta isoform that is analogous to the mouse TSHbeta
            isoform, consisting of a 27 nucleotide portion of intron 2 and all
            of exon 3, coding for 71.2% of the native human TSHbeta polypeptide.
            Erratum:[Gen Comp Endocrinol. 2009 Nov-Dec;164(2-3):130]
REFERENCE   6  (bases 1 to 528)
  AUTHORS   Steinfelder HJ, Radovick S, Mroczynski MA, Hauser P, McClaskey JH,
            Weintraub BD and Wondisford FE.
  TITLE     Role of a pituitary-specific transcription factor (pit-1/GHF-1) or a
            closely related protein in cAMP regulation of human thyrotropin-beta
            subunit gene expression
  JOURNAL   J Clin Invest 89 (2), 409-419 (1992)
   PUBMED   1310694
REFERENCE   7  (bases 1 to 528)
  AUTHORS   Tokino T, Hayashizaki Y, Takata KI, Yoshida MC and Matsubara K.
  TITLE     Chromosome regional mapping for the human thyroid stimulating
            hormone beta subunit (TSHB) gene
  JOURNAL   Cytogenet Cell Genet 53 (2-3), 140-143 (1990)
   PUBMED   2369842
REFERENCE   8  (bases 1 to 528)
  AUTHORS   Tatsumi K, Hayashizaki Y, Hiraoka Y, Miyai K and Matsubara K.
  TITLE     The structure of the human thyrotropin beta-subunit gene
  JOURNAL   Gene 73 (2), 489-497 (1988)
   PUBMED   3243440
REFERENCE   9  (bases 1 to 528)
  AUTHORS   Sairam,M.R. and Li,C.H.
  TITLE     Human pituitary thyrotropin. The primary structure of the alpha and
            beta subunits
  JOURNAL   Can J Biochem 55 (7), 755-760 (1977)
   PUBMED   890569
REFERENCE   10  (bases 1 to 528)
  AUTHORS   Isomaa,B. and Sjoblom,G.
  TITLE     The effect of CTAB, a cationic surfactant, on the absorption rate of
            [14C]tripalmitate from a test meal in the rat
  JOURNAL   Food Cosmet Toxicol 13 (5), 517-520 (1975)
   PUBMED   290
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: BG202613.1, BC069298.1 [ECO:0000331]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000256592.3/ ENSP00000256592.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL109660.14.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 26, 2019 this sequence version replaced NM_000549.4.
            Summary: The four human glycoprotein hormones chorionic
            gonadotropin (CG), luteinizing hormone (LH), follicle stimulating
            hormone (FSH), and thyroid stimulating hormone (TSH) are dimers
            consisting of alpha and beta subunits that are associated
            noncovalently. The alpha subunits of these hormones are identical,
            however, their beta chains are unique and confer biological
            specificity. Thyroid stimulating hormone functions in the control
            of thyroid structure and metabolism. The protein encoded by this
            gene is the beta subunit of thyroid stimulating hormone. Mutations
            in this gene are associated with congenital central and secondary
            hypothyroidism and Hashimoto's thyroiditis. Alternative splicing of
            this gene results in multiple transcript variants. [provided by
            RefSeq, May 2013].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1, also known as native
            TSH-beta).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments and data in published reports (PMID
            3243440).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..528
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     gene            1..528
                     /gene="TSHB"
                     /gene_synonym="TSH-B; TSH-BETA"
                     /note="thyroid stimulating hormone subunit beta"
                     /db_xref="GeneID:7252"
                     /db_xref="HGNC:HGNC:12372"
                     /db_xref="MIM:188540"
     CDS             37..453
                     /gene="TSHB"
                     /gene_synonym="TSH-B; TSH-BETA"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; thyrotropin subunit beta; thyrotropin beta chain;
                     thyroid stimulating hormone beta"
                     /codon_start=1
                     /product="thyrotropin subunit beta isoform 1 precursor"
                     /protein_id="NP_000540.2"
                     /db_xref="CCDS:CCDS880.1"
                     /db_xref="GeneID:7252"
                     /db_xref="HGNC:HGNC:12372"
                     /db_xref="MIM:188540"
                     /translation="MTALFLMSMLFGLTCGQAMSFCIPTEYTMHIERRECAYCLTINTT
                     ICAGYCMTRDINGKLFLPKYALSQDVCTYRDFIYRTVEIPGCPLHVAPYFSYPVALSCK
                     CGKCNTDYSDCIHEAIKTNYCTKPQKSYLVGFSV"
     sig_peptide     37..96
                     /gene="TSHB"
                     /gene_synonym="TSH-B; TSH-BETA"
                     /note="/evidence=ECO:0000269|PubMed:890569; propagated from
                     UniProtKB/Swiss-Prot (P01222.2)"
     mat_peptide     97..432
                     /gene="TSHB"
                     /gene_synonym="TSH-B; TSH-BETA"
                     /product="Thyrotropin subunit beta. /id=PRO_0000011746"
                     /note="propagated from UniProtKB/Swiss-Prot (P01222.2)"
     misc_feature    163..165
                     /gene="TSHB"
                     /gene_synonym="TSH-B; TSH-BETA"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P01222.2); glycosylation site"
     regulatory      495..500
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSHB"
                     /gene_synonym="TSH-B; TSH-BETA"
                     /note="hexamer: AATAAA"
     polyA_site      528
                     /gene="TSHB"
                     /gene_synonym="TSH-B; TSH-BETA"
                     /note="major polyA site"
ORIGIN
        1 gtcaccacag catctgctca ccaatgcaaa gtaagcatga ctgctctctt tctgatgtcc
       61 atgctttttg gccttacatg tgggcaagcg atgtcttttt gtattccaac tgagtataca
      121 atgcacatcg aaaggagaga gtgtgcttat tgcctaacca tcaacaccac catctgtgct
      181 ggatattgta tgacacggga tatcaatggc aaactgtttc ttcccaaata tgctctgtcc
      241 caggatgttt gcacatatag agacttcatc tacaggactg tagaaatacc aggatgccca
      301 ctccatgttg ctccctattt ttcctatcct gttgctttaa gctgtaagtg tggcaagtgc
      361 aatactgact atagtgactg catacatgaa gccatcaaga caaactactg taccaaacct
      421 cagaagtctt atctggtagg attttctgtc taatagtgat ataatttgca atttggttaa
      481 atgtgcttgc ctgaaataaa gctaataaaa atattatgtt tcacatta
//
LOCUS       NM_000550               2896 bp    mRNA    linear   PRI 17-APR-2023
DEFINITION  Homo sapiens tyrosinase related protein 1 (TYRP1), mRNA.
ACCESSION   NM_000550
VERSION     NM_000550.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2896)
  AUTHORS   Zhang J, Yu R, Guo X, Zou Y, Chen S, Zhou K, Chen Y, Li Y, Gao S and
            Wu Y.
  TITLE     Identification of TYR, TYRP1, DCT and LARP7 as related biomarkers
            and immune infiltration characteristics of vitiligo via
            comprehensive strategies
  JOURNAL   Bioengineered 12 (1), 2214-2227 (2021)
   PUBMED   34107850
  REMARK    GeneRIF: Identification of TYR, TYRP1, DCT and LARP7 as related
            biomarkers and immune infiltration characteristics of vitiligo via
            comprehensive strategies.
REFERENCE   2  (bases 1 to 2896)
  AUTHORS   Patel MH, Dolinska MB and Sergeev YV.
  TITLE     Tyrp1 Mutant Variants Associated with OCA3: Computational
            Characterization of Protein Stability and Ligand Binding
  JOURNAL   Int J Mol Sci 22 (19), 10203 (2021)
   PUBMED   34638544
  REMARK    GeneRIF: Tyrp1 Mutant Variants Associated with OCA3: Computational
            Characterization of Protein Stability and Ligand Binding.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2896)
  AUTHORS   Jha J, Singh MK, Singh L, Pushker N, Lomi N, Meel R, Chosdol K, Sen
            S, Bakhshi S and Kashyap S.
  TITLE     Association of TYRP1 with hypoxia and its correlation with patient
            outcome in uveal melanoma
  JOURNAL   Clin Transl Oncol 23 (9), 1874-1884 (2021)
   PUBMED   33811629
  REMARK    GeneRIF: Association of TYRP1 with hypoxia and its correlation with
            patient outcome in uveal melanoma.
REFERENCE   4  (bases 1 to 2896)
  AUTHORS   Gautron A, Migault M, Bachelot L, Corre S, Galibert MD and Gilot D.
  TITLE     Human TYRP1: Two functions for a single gene?
  JOURNAL   Pigment Cell Melanoma Res 34 (5), 836-852 (2021)
   PUBMED   33305505
  REMARK    GeneRIF: Human TYRP1: Two functions for a single gene? Review
            article
REFERENCE   5  (bases 1 to 2896)
  AUTHORS   Awad SS, Moftah NH, Rashed LA, Touni AA and Telep RAA.
  TITLE     Evaluation of the effect of narrow band-ultraviolet B on the
            expression of tyrosinase, TYRP-1, and TYRP-2 mRNA in vitiligo skin
            and their correlations with clinical improvement: A retrospective
            study
  JOURNAL   Dermatol Ther 34 (1), e14649 (2021)
   PUBMED   33314655
  REMARK    GeneRIF: Evaluation of the effect of narrow band-ultraviolet B on
            the expression of tyrosinase, TYRP-1, and TYRP-2 mRNA in vitiligo
            skin and their correlations with clinical improvement: A
            retrospective study.
REFERENCE   6  (bases 1 to 2896)
  AUTHORS   Thomas,M.G., Zippin,J. and Brooks,B.P.
  TITLE     Oculocutaneous Albinism and Ocular Albinism Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   37053367
REFERENCE   7  (bases 1 to 2896)
  AUTHORS   Lowings P, Yavuzer U and Goding CR.
  TITLE     Positive and negative elements regulate a melanocyte-specific
            promoter
  JOURNAL   Mol Cell Biol 12 (8), 3653-3662 (1992)
   PUBMED   1321344
REFERENCE   8  (bases 1 to 2896)
  AUTHORS   Murty VV, Bouchard B, Mathew S, Vijayasaradhi S and Houghton AN.
  TITLE     Assignment of the human TYRP (brown) locus to chromosome region 9p23
            by nonradioactive in situ hybridization
  JOURNAL   Genomics 13 (1), 227-229 (1992)
   PUBMED   1577487
REFERENCE   9  (bases 1 to 2896)
  AUTHORS   Shibata K, Takeda K, Tomita Y, Tagami H and Shibahara S.
  TITLE     Downstream region of the human tyrosinase-related protein gene
            enhances its promoter activity
  JOURNAL   Biochem Biophys Res Commun 184 (2), 568-575 (1992)
   PUBMED   1575733
REFERENCE   10  (bases 1 to 2896)
  AUTHORS   Colman MA, Shibahara S, Kwon B, Jenkins T and Ramsay M.
  TITLE     A two allele XbaI RFLP at the catalase 2 locus
  JOURNAL   Nucleic Acids Res 19 (4), 960 (1991)
   PUBMED   1673236
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.212190.1, X51420.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000388918.10/ ENSP00000373570.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138753.8, DA278582.1,
            X51420.1, BC052608.1, CD679533.1 and AL600654.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000550.2.
            Summary: This gene encodes a melanosomal enzyme that belongs to the
            tyrosinase family and plays an important role in the melanin
            biosynthetic pathway. Defects in this gene are the cause of rufous
            oculocutaneous albinism and oculocutaneous albinism type III.
            [provided by RefSeq, Mar 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2896
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p23"
     gene            1..2896
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /note="tyrosinase related protein 1"
                     /db_xref="GeneID:7306"
                     /db_xref="HGNC:HGNC:12450"
                     /db_xref="MIM:115501"
     misc_feature    9..11
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /note="upstream in-frame stop codon"
     CDS             180..1793
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /EC_number="1.14.18.-"
                     /note="5,6-dihydroxyindole-2-carboxylic acid oxidase;
                     catalase B; DHICA oxidase; glycoprotein 75; melanoma
                     antigen gp75"
                     /codon_start=1
                     /product="5,6-dihydroxyindole-2-carboxylic acid oxidase
                     precursor"
                     /protein_id="NP_000541.1"
                     /db_xref="CCDS:CCDS34990.1"
                     /db_xref="GeneID:7306"
                     /db_xref="HGNC:HGNC:12450"
                     /db_xref="MIM:115501"
                     /translation="MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDL
                     SPVSGPGTDRCGSSSGRGRCEAVTADSRPHSPQYPHDGRDDREVWPLRFFNRTCHCNGN
                     FSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFVIAT
                     RRSEEILGPDGNTPQFENISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLT
                     WHRYHLLRLEKDMQEMLQEPSFSLPYWNFATGKNVCDICTDDLMGSRSNFDSTLISPNS
                     VFSQWRVVCDSLEDYDTLGTLCNSTEDGPIRRNPAGNVARPMVQRLPEPQDVAQCLEVG
                     LFDTPPFYSNSTNSFRNTVEGYSDPTGKYDPAVRSLHNLAHLFLNGTGGQTHLSPNDPI
                     FVLLHTFTDAVFDEWLRRYNADISTFPLENAPIGHNRQYNMVPFWPPVTNTEMFVTAPD
                     NLGYTYEIQWPSREFSVPEIIAIAVVGALLLVALIFGTASYLIRARRSMDEANQPLLTD
                     QYQCYAEEYEKLQNPNQSVV"
     sig_peptide     180..251
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     252..1790
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /product="5,6-dihydroxyindole-2-carboxylic acid oxidase"
     misc_feature    465..467
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28661582,
                     ECO:0007744|PDB:5M8L; propagated from UniProtKB/Swiss-Prot
                     (P17643.2); glycosylation site"
     misc_feature    489..491
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28661582,
                     ECO:0007744|PDB:5M8L; propagated from UniProtKB/Swiss-Prot
                     (P17643.2); glycosylation site"
     misc_feature    720..722
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28661582,
                     ECO:0007744|PDB:5M8L; propagated from UniProtKB/Swiss-Prot
                     (P17643.2); glycosylation site"
     misc_feature    1089..1091
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28661582,
                     ECO:0007744|PDB:5M8L; propagated from UniProtKB/Swiss-Prot
                     (P17643.2); glycosylation site"
     misc_feature    1227..1229
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28661582,
                     ECO:0007744|PDB:5M8L; propagated from UniProtKB/Swiss-Prot
                     (P17643.2); glycosylation site"
     misc_feature    1332..1334
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28661582,
                     ECO:0007744|PDB:5M8L; propagated from UniProtKB/Swiss-Prot
                     (P17643.2); glycosylation site"
     misc_feature    1611..1682
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /note="propagated from UniProtKB/Swiss-Prot (P17643.2);
                     transmembrane region"
     regulatory      2681..2686
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /note="hexamer: AGTAAA"
     polyA_site      2700
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /note="major polyA site"
     regulatory      2849..2854
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /note="hexamer: ATTAAA"
     polyA_site      2869
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
ORIGIN
        1 aacagttctg acgtgagagg acaagaaaca caagcaaata taaaacattc aattctaaga
       61 gaagttcatc agagacatcc ttcaggattg tgagctggat tttcctctac gtgcttcagt
      121 cttctctaca caaagagctg caaaccaggt ctttgttttg cactcttatt tcaagcagaa
      181 tgagtgctcc taaactcctc tctctgggct gtatcttctt ccccttgcta ctttttcagc
      241 aggcccgggc tcaattccca agacagtgtg ccactgttga ggctttgaga agtggtatgt
      301 gttgcccaga cctgtcccct gtgtctgggc ctgggacaga ccgctgtggc tcatcatcag
      361 ggaggggcag atgtgaggca gtgactgcag actcccggcc ccacagccct cagtatcccc
      421 atgatggcag agatgatcgg gaggtctggc ccttgcgctt cttcaatagg acatgtcact
      481 gcaacggcaa tttctcagga cacaactgtg ggacgtgccg tcctggctgg agaggagctg
      541 cctgtgacca gagggttctc atagtcagga gaaatcttct ggacttaagt aaagaagaaa
      601 agaaccactt tgtccgggcc ctggatatgg caaagcgcac aactcaccct ttatttgtca
      661 ttgccaccag gagatcagaa gaaatactgg ggccagatgg caacacgcca caatttgaga
      721 acatttccat ttataactac tttgtttgga cacactatta ctcagtcaaa aagactttcc
      781 ttggggtagg acaggaaagc tttggtgaag tggatttctc tcatgaggga ccagcttttc
      841 tcacatggca caggtaccac ctcctgcgtc tggagaaaga catgcaggaa atgttgcaag
      901 agccttcttt ctcccttcct tactggaatt ttgcaacggg gaaaaatgtc tgtgatatct
      961 gcacggatga cttgatggga tccagaagca actttgattc cactctaata agcccaaact
     1021 ctgtcttttc tcaatggcga gtggtctgtg actccttgga agattatgat accctgggaa
     1081 cactttgtaa cagcaccgag gatgggccaa ttaggagaaa tccagctgga aatgtggcca
     1141 gaccaatggt gcaacgtctt cctgaaccac aggatgtcgc tcagtgcttg gaagttggtt
     1201 tatttgacac gcctcctttt tattccaact ctacaaacag tttccgaaac acagtggaag
     1261 gttacagtga ccccacggga aagtatgacc ctgctgttcg aagtcttcac aatttggctc
     1321 atctattcct gaatggaaca gggggacaaa cccatttgtc tccaaatgat cctatttttg
     1381 tcctcctgca caccttcaca gatgcagtct ttgatgaatg gctgaggaga tacaatgctg
     1441 atatatccac atttccattg gaaaatgccc ctattggaca taatagacaa tacaacatgg
     1501 tgccattctg gcccccagtc accaacacag aaatgtttgt tactgctcca gacaacctgg
     1561 gatacactta tgaaattcaa tggccaagtc gggagtttag tgtacctgag ataattgcca
     1621 tagcagtagt tggcgctttg ttactggttg cactcatttt tgggactgct tcttatctga
     1681 ttcgtgccag acgcagtatg gatgaagcta accagcctct cctcactgat cagtatcaat
     1741 gctatgctga agaatatgaa aaactccaga atcctaatca gtctgtggtc taacaaatgc
     1801 cctactctct tatgcattag tatcacaaaa ccacctggtt gaatataata gattgagtta
     1861 ttaactgtat tttctttcac tttattacct tctttctaat acaagcatat gttagcatta
     1921 aagttctagg catacttttc aaagctggga agaccctttc agaatctttt caatgggttt
     1981 taattttcag ttctatttaa aatggtgaat gacactaaac tccatgatat ttaaggatag
     2041 tgtgaagatc tttggcatga tttaaaggtt gagtatgtga agatataagt aagtgaacta
     2101 ccatgctttg tttacgtgta aaggaaaata atgtttgata gtaaatgtcc acttaaaata
     2161 catgaatggg catttctaaa atgttaaaac ataaacacat ttccattcat ggatatttgt
     2221 caacagattt aaagaaaacc acagttatta attaaagaaa attaattatg tgtagttata
     2281 aaccaatgaa attttgatta accttttcaa attaatgttc cagtttgaag accaatcaaa
     2341 tatattattt agtcaacata tactatttag tctcaggttc aaggctacaa caaaaatcac
     2401 catctttgtc aaactttgga gagggaaaat cttcactttc ttaagcaaca atggatattg
     2461 cctgtgtttg ccactgtgtt tccctgcctc tcaattcgct gaaaaaggaa ctacctatcc
     2521 ttacatttca cctactaatg tctcttctaa catcttagag gtccatggag aaggcatatg
     2581 gagaacatgt tttatactgc tctataaata gtattccaat cactgtgctt aatttaaata
     2641 gcattatctt atcatttatc agccttttat gtattttcca agtaaaatat taacatatta
     2701 tttcattggt cttctttttt atctggttct atatgaatgc tattttttcc cttctcttct
     2761 aacatgaaat atattttctc tttttgatct tgtgctatga aacaatcttc caaagaactg
     2821 tataaggtgg tcataagtga atattttaat taaaattggt aaaaataaat aataacagta
     2881 ataatcatgc actata
//
LOCUS       NM_000551               4414 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript
            variant 1, mRNA.
ACCESSION   NM_000551
VERSION     NM_000551.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4414)
  AUTHORS   Michal M, Kravtsov O, Ross JS, Skanderova D, Martinek P, Mosaieby E,
            Mata DA, Williams EA and Hung YP.
  TITLE     Clear cell mesotheliomas with inactivating VHL mutations and
            near-haploid genomic features
  JOURNAL   Genes Chromosomes Cancer 62 (5), 267-274 (2023)
   PUBMED   36515470
  REMARK    GeneRIF: Clear cell mesotheliomas with inactivating VHL mutations
            and near-haploid genomic features.
REFERENCE   2  (bases 1 to 4414)
  AUTHORS   Duan Y, Yue K, Ye B, Chen P, Zhang J, He Q, Wu Y, Lai Q, Li H, Wu Y,
            Jing C and Wang X.
  TITLE     LncRNA MALAT1 promotes growth and metastasis of head and neck
            squamous cell carcinoma by repressing VHL through a non-canonical
            function of EZH2
  JOURNAL   Cell Death Dis 14 (2), 149 (2023)
   PUBMED   36813772
  REMARK    GeneRIF: LncRNA MALAT1 promotes growth and metastasis of head and
            neck squamous cell carcinoma by repressing VHL through a
            non-canonical function of EZH2. Erratum:[Cell Death Dis. 2023 Aug
            15;14(8):522. PMID: 37582767] Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4414)
  AUTHORS   Chrabanska M, Szweda-Gandor N and Drozdzowska B.
  TITLE     Two Single Nucleotide Polymorphisms in the Von Hippel-Lindau Tumor
            Suppressor Gene in Patients with Clear Cell Renal Cell Carcinoma
  JOURNAL   Int J Mol Sci 24 (4), 3778 (2023)
   PUBMED   36835190
  REMARK    GeneRIF: Two Single Nucleotide Polymorphisms in the Von
            Hippel-Lindau Tumor Suppressor Gene in Patients with Clear Cell
            Renal Cell Carcinoma. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4414)
  AUTHORS   Zhang S, Xu H, Li W, Ji J, Jin Q, Chen L, Gan Q, Tao Q and Chai Y.
  TITLE     MDM2 promotes cancer cell survival through regulating the expression
            of HIF-1alpha and pVHL in retinoblastoma
  JOURNAL   Pathol Oncol Res 29, 1610801 (2023)
   PUBMED   36741966
  REMARK    GeneRIF: MDM2 promotes cancer cell survival through regulating the
            expression of HIF-1alpha and pVHL in retinoblastoma. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 4414)
  AUTHORS   Neumann HP, Eng C, Mulligan LM, Glavac D, Zauner I, Ponder BA,
            Crossey PA, Maher ER and Brauch H.
  TITLE     Consequences of direct genetic testing for germline mutations in the
            clinical management of families with multiple endocrine neoplasia,
            type II
  JOURNAL   JAMA 274 (14), 1149-1151 (1995)
   PUBMED   7563486
REFERENCE   6  (bases 1 to 4414)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH,
            Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   7  (bases 1 to 4414)
  AUTHORS   Duan DR, Humphrey JS, Chen DY, Weng Y, Sukegawa J, Lee S, Gnarra JR,
            Linehan WM and Klausner RD.
  TITLE     Characterization of the VHL tumor suppressor gene product:
            localization, complex formation, and the effect of natural
            inactivating mutations
  JOURNAL   Proc Natl Acad Sci U S A 92 (14), 6459-6463 (1995)
   PUBMED   7604013
REFERENCE   8  (bases 1 to 4414)
  AUTHORS   Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T,
            Kuzmin I, Modi W, Geil L et al.
  TITLE     Identification of the von Hippel-Lindau disease tumor suppressor
            gene
  JOURNAL   Science 260 (5112), 1317-1320 (1993)
   PUBMED   8493574
REFERENCE   9  (bases 1 to 4414)
  AUTHORS   van Leeuwaarde,R.S., Ahmad,S., van Nesselrooij,B. and Giles,R.H.
  TITLE     Von Hippel-Lindau Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301636
REFERENCE   10  (bases 1 to 4414)
  AUTHORS   Neumann HP and Wiestler OD.
  TITLE     Clustering of features of von Hippel-Lindau syndrome: evidence for a
            complex genetic locus
  JOURNAL   Lancet 337 (8749), 1052-1054 (1991)
   PUBMED   1673491
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.971511.1, L15409.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000256474.3/ ENSP00000256474.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC034193.5.
            On Nov 30, 2019 this sequence version replaced NM_000551.3.
            Summary: This gene encodes a component of a ubiquitination complex.
            The encoded protein is involved in the ubiquitination and
            degradation of hypoxia-inducible-factor (HIF), which is a
            transcription factor that plays a central role in the regulation of
            gene expression by oxygen. In addition to oxygen-related gene
            expression, this protein plays a role in many other cellular
            processes including cilia formation, cytokine signaling, regulation
            of senescence, and formation of the extracellular matrix. Variants
            of this gene are associated with von Hippel-Lindau syndrome,
            pheochromocytoma, erythrocytosis, renal cell carcinoma, and
            cerebellar hemangioblastoma. [provided by RefSeq, Jun 2022].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4414
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..4414
                     /gene="VHL"
                     /gene_synonym="HRCA1; pVHL; RCA1; VHL1"
                     /note="von Hippel-Lindau tumor suppressor"
                     /db_xref="GeneID:7428"
                     /db_xref="HGNC:HGNC:12687"
                     /db_xref="MIM:608537"
     CDS             71..712
                     /gene="VHL"
                     /gene_synonym="HRCA1; pVHL; RCA1; VHL1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     elongin binding protein; von Hippel-Lindau disease tumor
                     suppressor; protein G7; von Hippel-Lindau tumor suppressor,
                     E3 ubiquitin protein ligase"
                     /codon_start=1
                     /product="von Hippel-Lindau disease tumor suppressor
                     isoform 1"
                     /protein_id="NP_000542.1"
                     /db_xref="CCDS:CCDS2597.1"
                     /db_xref="GeneID:7428"
                     /db_xref="HGNC:HGNC:12687"
                     /db_xref="MIM:608537"
                     /translation="MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGP
                     EELGAEEEMEAGRPRPVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPG
                     TGRRIHSYRGHLWLFRDAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCL
                     QVVRSLVKPENYRRLDIVRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD"
     misc_feature    71..265
                     /gene="VHL"
                     /gene_synonym="HRCA1; pVHL; RCA1; VHL1"
                     /note="propagated from UniProtKB/Swiss-Prot (P40337.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    110..229
                     /gene="VHL"
                     /gene_synonym="HRCA1; pVHL; RCA1; VHL1"
                     /note="propagated from UniProtKB/Swiss-Prot (P40337.2);
                     Region: 8 X 5 AA tandem repeats of G-[PAVG]-E-E-[DAYSLE]"
     misc_feature    230..232
                     /gene="VHL"
                     /gene_synonym="HRCA1; pVHL; RCA1; VHL1"
                     /note="Region: alternative start codon"
     misc_feature    368..535
                     /gene="VHL"
                     /gene_synonym="HRCA1; pVHL; RCA1; VHL1"
                     /note="propagated from UniProtKB/Swiss-Prot (P40337.2);
                     Region: Involved in binding to CCT complex"
     misc_feature    539..568
                     /gene="VHL"
                     /gene_synonym="HRCA1; pVHL; RCA1; VHL1"
                     /note="propagated from UniProtKB/Swiss-Prot (P40337.2);
                     Region: Interaction with Elongin BC complex"
     regulatory      4390..4395
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VHL"
                     /gene_synonym="HRCA1; pVHL; RCA1; VHL1"
                     /note="hexamer: ATTAAA"
     polyA_site      4414
                     /gene="VHL"
                     /gene_synonym="HRCA1; pVHL; RCA1; VHL1"
                     /note="major polyA site"
ORIGIN
        1 gcagctccgc cccgcgtccg acccgcggat cccgcggcgt ccggcccggg tggtctggat
       61 cgcggaggga atgccccgga gggcggagaa ctgggacgag gccgaggtag gcgcggagga
      121 ggcaggcgtc gaagagtacg gccctgaaga agacggcggg gaggagtcgg gcgccgagga
      181 gtccggcccg gaagagtccg gcccggagga actgggcgcc gaggaggaga tggaggccgg
      241 gcggccgcgg cccgtgctgc gctcggtgaa ctcgcgcgag ccctcccagg tcatcttctg
      301 caatcgcagt ccgcgcgtcg tgctgcccgt atggctcaac ttcgacggcg agccgcagcc
      361 ctacccaacg ctgccgcctg gcacgggccg ccgcatccac agctaccgag gtcacctttg
      421 gctcttcaga gatgcaggga cacacgatgg gcttctggtt aaccaaactg aattatttgt
      481 gccatctctc aatgttgacg gacagcctat ttttgccaat atcacactgc cagtgtatac
      541 tctgaaagag cgatgcctcc aggttgtccg gagcctagtc aagcctgaga attacaggag
      601 actggacatc gtcaggtcgc tctacgaaga tctggaagac cacccaaatg tgcagaaaga
      661 cctggagcgg ctgacacagg agcgcattgc acatcaacgg atgggagatt gaagatttct
      721 gttgaaactt acactgtttc atctcagctt ttgatggtac tgatgagtct tgatctagat
      781 acaggactgg ttccttcctt agtttcaaag tgtctcattc tcagagtaaa ataggcacca
      841 ttgcttaaaa gaaagttaac tgacttcact aggcattgtg atgtttaggg gcaaacatca
      901 caaaatgtaa tttaatgcct gcccattaga gaagtattta tcaggagaag gtggtggcat
      961 ttttgcttcc tagtaagtca ggacagcttg tatgtaagga ggtttgtata agtaattcag
     1021 tgggaattgc agcatatcgt ttaattttaa gaaggcattg gcatctgctt ttaatggatg
     1081 tataatacat ccattctaca tccgtagcgg ttggtgactt gtctgcctcc tgctttggga
     1141 agactgaggc atccgtgagg cagggacaag tctttctcct ctttgagacc ccagtgcctg
     1201 cacatcatga gccttcagtc agggtttgtc agaggaacaa accaggggac actttgttag
     1261 aaagtgctta gaggttctgc ctctattttt gttggggggt gggagagggg accttaaaat
     1321 gtgtacagtg aacaaatgtc ttaaagggaa tcatttttgt aggaagcatt ttttataatt
     1381 ttctaagtcg tgcactttct cggtccactc ttgttgaagt gctgttttat tactgtttct
     1441 aaactaggat tgacattcta cagttgtgat aatagcattt ttgtaacttg ccatccgcac
     1501 agaaaatacg agaaaatctg catgtttgat tatagtatta atggacaaat aagtttttgc
     1561 taaatgtgag tatttctgtt cctttttgta aatatgtgac attcctgatt gatttgggtt
     1621 tttttgttgt tgttgttttg ttttgttttg tttttttgag atggagtctc actcttgtca
     1681 cccaggctgg agtgcagtgg cgccatctcg gctcactgca acctctgcct cctgggttca
     1741 cgtaatcctc ctgagtagct gggattacag gcgcctgcca ccacgctggc caatttttgt
     1801 acttttagta gagacagtgt ttcgtcatgt tggccaggct ggtttcaaac tcctgacctc
     1861 aggtgatccg cccacctcag cctcccaaaa tggtgggatt acaggtgtgt gggccaccgt
     1921 gcctggctga ttcagcattt tttatcaggc aggaccaggt ggcacttcca cctccagcct
     1981 ctggtcctac caatggattc atggagtagc ctggactgtt tcatagtttt ctaaatgtac
     2041 aaattcttat aggctagact tagattcatt aactcaaatt caatgcttct atcagactca
     2101 gttttttgta actaatagat ttttttttcc acttttgttc tactccttcc ctaatagctt
     2161 tttaaaaaaa tctccccagt agagaaacat ttggaaaaga cagaaaacta aaaaggaaga
     2221 aaaaagatcc ctattagata cacttcttaa atacaatcac attaacattt tgagctattt
     2281 ccttccagcc tttttagggc agattttggt tggtttttac atagttgaga ttgtactgtt
     2341 catacagttt tatacccttt ttcatttaac tttataactt aaatattgct ctatgttagt
     2401 ataagctttt cacaaacatt agtatagtct cccttttata attaatgttt gtgggtattt
     2461 cttggcatgc atctttaatt ccttatccta gcctttgggc acaattcctg tgctcaaaaa
     2521 tgagagtgac ggctggcatg gtggctcccg cctgtaatcc cagtactttg gaaagccaag
     2581 gtaagaggat tgcttgagcc cagaacttca agatgagcct gggctcatag tgagaaccca
     2641 tctatacaaa aaatttttaa aaattagcat ggcggcacac atctgtaatc ctagctactt
     2701 ggcaggctga ggtgagaaga tcattggagt ttaggaattg gaggctgcag tgagccatga
     2761 gtatgccact gcactccagc ctgggggaca gagcaagacc ctgcctcaaa aaaaaaaaaa
     2821 aaaaaaaaat caggccgggc atggtggctc acgcctgtaa tcccagcact ttgggaggtc
     2881 gaggtgggca gatcacctga ggtcaggagt tcgagaccag cctggccaac atggtaaaac
     2941 cccatttcta ctaaaaaata caagaattag ctgggtgtgg tggcgcatgc ctgtaatcct
     3001 agctactcag gaggctgagg caggagaatc acttgaaccc aggaggcgaa gattgcagtg
     3061 agctgatatc gcaccattgt actccagcct gtgtgacaga gcaatactct tgtctcaaaa
     3121 aaaaaaaaaa attcaaatca gagtgaagtg aatgagacac tccagttttc cttctactcc
     3181 gaatttcaac tgattttagc tcctcctttc aacattcaac aaatagtctt tttttttttt
     3241 tttttttttt tttttttgag atggagtctc actctgttgc ccaggctgga gtgcagtggt
     3301 gcgatctctg ctcactacaa gctctgcctc ccgagttcaa gtgattctcc tggctcaccc
     3361 tcctgagtag ctgggattac aggcgcctgc caccatgcct ggctaatttt gtgtttttag
     3421 tggagacggg gtttcaccat gttgtccagg atggtcttga tctcctgacc ttgtgatcca
     3481 cccacctcag cctcccaaag tgctgggatt acaggtgtga gccaccgcgt ccagccagct
     3541 ttattatttt ttttaagctg tctttgtgtc aaaatgatag ttcatgctcc tcttgttaaa
     3601 acctgcaggc cgagcacagt ggctcatgcc tgtaatccca gcattttggg agaccaaggc
     3661 ggatggatca cctgaggtca ggagctgaag accagcctgg ctaacatggt gaaacctcat
     3721 ctccacttaa aatacaaaaa ttgccggccg cggcggctca tgcctgtaat cccagcactt
     3781 tgggaggcct aggcgggtgg atcacgaggt caggaaatcg agaccatcct ggctaacacg
     3841 ggtgaaaccc cgtctctatt aaaaaataga aaaaattagg cgggcgtggt ggtgagcgcc
     3901 tgtagtccca gctactcgag agcctgaggc aggagaatgg catgaacctg gaaggcggag
     3961 cttgcagtga gctgagatgg tgccactgca ctctaacctg ggcgacagag tgagacaccg
     4021 tctcaaaaaa aaaaacaaaa aacaaaaatt atccaggtgt ggcggtgggc gcctgtgagg
     4081 caggcgaatc tcttgaaccc gggaggcgga ggttgcagtg agccaagatc acaccattgc
     4141 actccagcct gggcaacaag agtgaaattc catctcaaaa agaaaccaaa aaaacaaaaa
     4201 aaaaacatgc cgtttgagta ctgtgttttt ggtgttgtcc aaggaaaatt aaaaacctgt
     4261 agcatgaata atgtttgttt ttcatttcga atcttgtgaa tgtattaaat atatcgctct
     4321 taagagacgg tgaagttcct atttcaagtt tttttttttt tttttttttt taaagctgtt
     4381 ttttaataca ttaaatggtg ctgagtaaag gaaa
//
LOCUS       NM_000552               8830 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens von Willebrand factor (VWF), mRNA.
ACCESSION   NM_000552
VERSION     NM_000552.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8830)
  AUTHORS   Rajabalee N, Siushansian H, Weerapura M, Berton S, Berbatovci F,
            Hooks B, Geoffrion M, Yang D, Harper ME, Rayner K, Blais A and Sun
            J.
  TITLE     ATF2 orchestrates macrophage differentiation and activation to
            promote antibacterial responses
  JOURNAL   J Leukoc Biol 114 (3), 280-298 (2023)
   PUBMED   37403209
  REMARK    GeneRIF: ATF2 orchestrates macrophage differentiation and activation
            to promote antibacterial responses.
REFERENCE   2  (bases 1 to 8830)
  AUTHORS   Wong SWK, Tey SK, Mao X, Fung HL, Xiao ZJ, Wong DKH, Mak LY, Yuen
            MF, Ng IO, Yun JP, Gao Y and Yam JWP.
  TITLE     Small Extracellular Vesicle-Derived vWF Induces a Positive Feedback
            Loop between Tumor and Endothelial Cells to Promote Angiogenesis and
            Metastasis in Hepatocellular Carcinoma
  JOURNAL   Adv Sci (Weinh) 10 (26), e2302677 (2023)
   PUBMED   37387563
  REMARK    GeneRIF: Small Extracellular Vesicle-Derived vWF Induces a Positive
            Feedback Loop between Tumor and Endothelial Cells to Promote
            Angiogenesis and Metastasis in Hepatocellular Carcinoma.
REFERENCE   3  (bases 1 to 8830)
  AUTHORS   Mobayen G, Smith K, Ediriwickrema K, Starke RD, Solomonidis EG,
            Laffan MA, Randi AM and McKinnon TAJ.
  TITLE     von Willebrand factor binds to angiopoietin-2 within endothelial
            cells and after release from Weibel-Palade bodies
  JOURNAL   J Thromb Haemost 21 (7), 1802-1812 (2023)
   PUBMED   37011710
  REMARK    GeneRIF: von Willebrand factor binds to angiopoietin-2 within
            endothelial cells and after release from Weibel-Palade bodies.
REFERENCE   4  (bases 1 to 8830)
  AUTHORS   Lu Y, Qi Y, Gu J, Tao Q, Zhu Y, Zhang H and Liang X.
  TITLE     Vascular endothelial-derived Von Willebrand factor inhibits lung
            cancer progression through the alphavbeta3/ERK1/2 axis
  JOURNAL   Toxicol Appl Pharmacol 468, 116516 (2023)
   PUBMED   37068611
  REMARK    GeneRIF: Vascular endothelial-derived Von Willebrand factor inhibits
            lung cancer progression through the alphavbeta3/ERK1/2 axis.
REFERENCE   5  (bases 1 to 8830)
  AUTHORS   Lenting PJ, Christophe OD and Denis CV.
  TITLE     von Willebrand factor biosynthesis, secretion, and clearance:
            connecting the far ends
  JOURNAL   Blood 125 (13), 2019-2028 (2015)
   PUBMED   25712991
  REMARK    Review article
REFERENCE   6  (bases 1 to 8830)
  AUTHORS   Goodeve,A. and James,P.
  TITLE     von Willebrand Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301765
REFERENCE   7  (bases 1 to 8830)
  AUTHORS   Rabinowitz I, Tuley EA, Mancuso DJ, Randi AM, Firkin BG, Howard MA
            and Sadler JE.
  TITLE     von Willebrand disease type B: a missense mutation selectively
            abolishes ristocetin-induced von Willebrand factor binding to
            platelet glycoprotein Ib
  JOURNAL   Proc Natl Acad Sci U S A 89 (20), 9846-9849 (1992)
   PUBMED   1409710
REFERENCE   8  (bases 1 to 8830)
  AUTHORS   Lavergne JM, De Paillette L, Bahnak BR, Ribba AS, Fressinaud E,
            Meyer D and Pietu G.
  TITLE     Defects in type IIA von Willebrand disease: a cysteine 509 to
            arginine substitution in the mature von Willebrand factor disrupts a
            disulphide loop involved in the interaction with platelet
            glycoprotein Ib-IX
  JOURNAL   Br J Haematol 82 (1), 66-72 (1992)
   PUBMED   1419804
REFERENCE   9  (bases 1 to 8830)
  AUTHORS   Donner M, Kristoffersson AC, Lenk H, Scheibel E, Dahlback B, Nilsson
            IM and Holmberg L.
  TITLE     Type IIB von Willebrand's disease: gene mutations and clinical
            presentation in nine families from Denmark, Germany and Sweden
  JOURNAL   Br J Haematol 82 (1), 58-65 (1992)
   PUBMED   1419803
REFERENCE   10  (bases 1 to 8830)
  AUTHORS   Sadler,J.E., Shelton-Inloes,B.B., Sorace,J.M., Harlan,J.M.,
            Titani,K. and Davie,E.W.
  TITLE     Cloning and characterization of two cDNAs coding for human von
            Willebrand factor
  JOURNAL   Proc Natl Acad Sci U S A 82 (19), 6394-6398 (1985)
   PUBMED   2864688
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X04385.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000261405.10/ ENSP00000261405.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD690980.1, X04385.1,
            AC005846.1, DB293903.1, M10321.1, BQ898017.1 and AW015780.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 27, 2020 this sequence version replaced NM_000552.4.
            Summary: This gene encodes a glycoprotein involved in hemostasis.
            The encoded preproprotein is proteolytically processed following
            assembly into large multimeric complexes. These complexes function
            in the adhesion of platelets to sites of vascular injury and the
            transport of various proteins in the blood. Mutations in this gene
            result in von Willebrand disease, an inherited bleeding disorder.
            An unprocessed pseudogene has been found on chromosome 22.
            [provided by RefSeq, Oct 2015].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..8830
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..8830
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="von Willebrand factor"
                     /db_xref="GeneID:7450"
                     /db_xref="HGNC:HGNC:12726"
                     /db_xref="MIM:613160"
     misc_feature    170..172
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="upstream in-frame stop codon"
     CDS             251..8692
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="coagulation factor VIII VWF; Factor VIII related
                     antigen"
                     /codon_start=1
                     /product="von Willebrand factor preproprotein"
                     /protein_id="NP_000543.3"
                     /db_xref="CCDS:CCDS8539.1"
                     /db_xref="GeneID:7450"
                     /db_xref="HGNC:HGNC:12726"
                     /db_xref="MIM:613160"
                     /translation="MIPARFAGVLLALALILPGTLCAEGTRGRSSTARCSLFGSDFVNT
                     FDGSMYSFAGYCSYLLAGGCQKRSFSIIGDFQNGKRVSLSVYLGEFFDIHLFVNGTVTQ
                     GDQRVSMPYASKGLYLETEAGYYKLSGEAYGFVARIDGSGNFQVLLSDRYFNKTCGLCG
                     NFNIFAEDDFMTQEGTLTSDPYDFANSWALSSGEQWCERASPPSSSCNISSGEMQKGLW
                     EQCQLLKSTSVFARCHPLVDPEPFVALCEKTLCECAGGLECACPALLEYARTCAQEGMV
                     LYGWTDHSACSPVCPAGMEYRQCVSPCARTCQSLHINEMCQERCVDGCSCPEGQLLDEG
                     LCVESTECPCVHSGKRYPPGTSLSRDCNTCICRNSQWICSNEECPGECLVTGQSHFKSF
                     DNRYFTFSGICQYLLARDCQDHSFSIVIETVQCADDRDAVCTRSVTVRLPGLHNSLVKL
                     KHGAGVAMDGQDVQLPLLKGDLRIQHTVTASVRLSYGEDLQMDWDGRGRLLVKLSPVYA
                     GKTCGLCGNYNGNQGDDFLTPSGLAEPRVEDFGNAWKLHGDCQDLQKQHSDPCALNPRM
                     TRFSEEACAVLTSPTFEACHRAVSPLPYLRNCRYDVCSCSDGRECLCGALASYAAACAG
                     RGVRVAWREPGRCELNCPKGQVYLQCGTPCNLTCRSLSYPDEECNEACLEGCFCPPGLY
                     MDERGDCVPKAQCPCYYDGEIFQPEDIFSDHHTMCYCEDGFMHCTMSGVPGSLLPDAVL
                     SSPLSHRSKRSLSCRPPMVKLVCPADNLRAEGLECTKTCQNYDLECMSMGCVSGCLCPP
                     GMVRHENRCVALERCPCFHQGKEYAPGETVKIGCNTCVCQDRKWNCTDHVCDATCSTIG
                     MAHYLTFDGLKYLFPGECQYVLVQDYCGSNPGTFRILVGNKGCSHPSVKCKKRVTILVE
                     GGEIELFDGEVNVKRPMKDETHFEVVESGRYIILLLGKALSVVWDRHLSISVVLKQTYQ
                     EKVCGLCGNFDGIQNNDLTSSNLQVEEDPVDFGNSWKVSSQCADTRKVPLDSSPATCHN
                     NIMKQTMVDSSCRILTSDVFQDCNKLVDPEPYLDVCIYDTCSCESIGDCACFCDTIAAY
                     AHVCAQHGKVVTWRTATLCPQSCEERNLRENGYECEWRYNSCAPACQVTCQHPEPLACP
                     VQCVEGCHAHCPPGKILDELLQTCVDPEDCPVCEVAGRRFASGKKVTLNPSDPEHCQIC
                     HCDVVNLTCEACQEPGGLVVPPTDAPVSPTTLYVEDISEPPLHDFYCSRLLDLVFLLDG
                     SSRLSEAEFEVLKAFVVDMMERLRISQKWVRVAVVEYHDGSHAYIGLKDRKRPSELRRI
                     ASQVKYAGSQVASTSEVLKYTLFQIFSKIDRPEASRITLLLMASQEPQRMSRNFVRYVQ
                     GLKKKKVIVIPVGIGPHANLKQIRLIEKQAPENKAFVLSSVDELEQQRDEIVSYLCDLA
                     PEAPPPTLPPDMAQVTVGPGLLGVSTLGPKRNSMVLDVAFVLEGSDKIGEADFNRSKEF
                     MEEVIQRMDVGQDSIHVTVLQYSYMVTVEYPFSEAQSKGDILQRVREIRYQGGNRTNTG
                     LALRYLSDHSFLVSQGDREQAPNLVYMVTGNPASDEIKRLPGDIQVVPIGVGPNANVQE
                     LERIGWPNAPILIQDFETLPREAPDLVLQRCCSGEGLQIPTLSPAPDCSQPLDVILLLD
                     GSSSFPASYFDEMKSFAKAFISKANIGPRLTQVSVLQYGSITTIDVPWNVVPEKAHLLS
                     LVDVMQREGGPSQIGDALGFAVRYLTSEMHGARPGASKAVVILVTDVSVDSVDAAADAA
                     RSNRVTVFPIGIGDRYDAAQLRILAGPAGDSNVVKLQRIEDLPTMVTLGNSFLHKLCSG
                     FVRICMDEDGNEKRPGDVWTLPDQCHTVTCQPDGQTLLKSHRVNCDRGLRPSCPNSQSP
                     VKVEETCGCRWTCPCVCTGSSTRHIVTFDGQNFKLTGSCSYVLFQNKEQDLEVILHNGA
                     CSPGARQGCMKSIEVKHSALSVELHSDMEVTVNGRLVSVPYVGGNMEVNVYGAIMHEVR
                     FNHLGHIFTFTPQNNEFQLQLSPKTFASKTYGLCGICDENGANDFMLRDGTVTTDWKTL
                     VQEWTVQRPGQTCQPILEEQCLVPDSSHCQVLLLPLFAECHKVLAPATFYAICQQDSCH
                     QEQVCEVIASYAHLCRTNGVCVDWRTPDFCAMSCPPSLVYNHCEHGCPRHCDGNVSSCG
                     DHPSEGCFCPPDKVMLEGSCVPEEACTQCIGEDGVQHQFLEAWVPDHQPCQICTCLSGR
                     KVNCTTQPCPTAKAPTCGLCEVARLRQNADQCCPEYECVCDPVSCDLPPVPHCERGLQP
                     TLTNPGECRPNFTCACRKEECKRVSPPSCPPHRLPTLRKTQCCDEYECACNCVNSTVSC
                     PLGYLASTATNDCGCTTTTCLPDKVCVHRSTIYPVGQFWEEGCDVCTCTDMEDAVMGLR
                     VAQCSQKPCEDSCRSGFTYVLHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQWAS
                     PENPCLINECVRVKEEVFIQQRNVSCPQLEVPVCPSGFQLSCKTSACCPSCRCERMEAC
                     MLNGTVIGPGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCNPCPLGYKEENNTGECC
                     GRCLPTACTIQLRGGQIMTLKRDETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHK
                     CLAEGGKIMKIPGTCCDTCEEPECNDITARLQYVKVGSCKSEVEVDIHYCQGKCASKAM
                     YSIDINDVQDQCSCCSPTRTEPMQVALHCTNGSVVYHEVLNAMECKCSPRKCSK"
     sig_peptide     251..316
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     317..2539
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /product="von Willebrand antigen 2. /id=PRO_0000022682"
                     /note="propagated from UniProtKB/Swiss-Prot (P04275.4)"
     misc_feature    545..547
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P04275.4); glycosylation site"
     misc_feature    716..718
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P04275.4); glycosylation site"
     misc_feature    881..883
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P04275.4); glycosylation site"
     misc_feature    2246..2248
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P04275.4); glycosylation site"
     mat_peptide     2540..8689
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /product="von Willebrand factor. /id=PRO_0000022683"
                     /note="propagated from UniProtKB/Swiss-Prot (P04275.4)"
     misc_feature    2540..2611
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="propagated from UniProtKB/Swiss-Prot (P04275.4);
                     Region: Amino-terminal"
     misc_feature    2612..2749
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="propagated from UniProtKB/Swiss-Prot (P04275.4);
                     Region: E1"
     misc_feature    2726..2809
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="propagated from UniProtKB/Swiss-Prot (P04275.4);
                     Region: CX"
     misc_feature    2819..2821
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P04275.4); glycosylation site"
     misc_feature    3689..3691
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="N-linked (GlcNAc...) asparagine, atypical;
                     propagated from UniProtKB/Swiss-Prot (P04275.4);
                     glycosylation site"
     misc_feature    3941..3943
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P04275.4); glycosylation site"
     misc_feature    3992..3994
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P04275.4); glycosylation site"
     misc_feature    4013..4015
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P04275.4); glycosylation site"
     misc_feature    4016..4018
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P04275.4); glycosylation site"
     misc_feature    4037..4039
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:3524673; propagated from
                     UniProtKB/Swiss-Prot (P04275.4); glycosylation site"
     misc_feature    4652..4654
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P04275.4); glycosylation site"
     misc_feature    4679..4681
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P04275.4); glycosylation site"
     misc_feature    4706..4708
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="O-linked (GalNAc...) serine. /evidence=ECO:0000305;
                     propagated from UniProtKB/Swiss-Prot (P04275.4);
                     glycosylation site"
     misc_feature    4709..4711
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P04275.4); glycosylation site"
     misc_feature    4793..4795
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:19139490; propagated from
                     UniProtKB/Swiss-Prot (P04275.4); glycosylation site"
     misc_feature    4970..4972
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P04275.4); glycosylation site"
     misc_feature    5285..5287
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P04275.4); glycosylation site"
     misc_feature    6896..7033
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="propagated from UniProtKB/Swiss-Prot (P04275.4);
                     Region: E2"
     misc_feature    6917..6919
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P04275.4); glycosylation site"
     misc_feature    7118..7120
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P04275.4); glycosylation site"
     misc_feature    7142..7144
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P04275.4); glycosylation site"
     misc_feature    7319..7321
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P04275.4); glycosylation site"
     misc_feature    7448..7450
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P04275.4); glycosylation site"
     misc_feature    7769..7777
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="propagated from UniProtKB/Swiss-Prot (P04275.4);
                     Region: Cell attachment site"
     misc_feature    7886..7888
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04275.4); glycosylation site"
     misc_feature    8003..8005
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P04275.4); glycosylation site"
     misc_feature    8618..8620
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P04275.4); glycosylation site"
     regulatory      8802..8807
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="hexamer: AATAAA"
     polyA_site      8830
                     /gene="VWF"
                     /gene_synonym="F8VWF; VWD"
                     /note="major polyA site"
ORIGIN
        1 agctcacagc tattgtggtg ggaaagggag ggtggttggt ggatgtcaca gcttgggctt
       61 tatctccccc agcagtgggg actccacagc ccctgggcta cataacagca agacagtccg
      121 gagctgtagc agacctgatt gagcctttgc agcagctgag agcatggcct agggtgggcg
      181 gcaccattgt ccagcagctg agtttcccag ggaccttgga gatagccgca gccctcattt
      241 gcaggggaag atgattcctg ccagatttgc cggggtgctg cttgctctgg ccctcatttt
      301 gccagggacc ctttgtgcag aaggaactcg cggcaggtca tccacggccc gatgcagcct
      361 tttcggaagt gacttcgtca acacctttga tgggagcatg tacagctttg cgggatactg
      421 cagttacctc ctggcagggg gctgccagaa acgctccttc tcgattattg gggacttcca
      481 gaatggcaag agagtgagcc tctccgtgta tcttggggaa ttttttgaca tccatttgtt
      541 tgtcaatggt accgtgacac agggggacca aagagtctcc atgccctatg cctccaaagg
      601 gctgtatcta gaaactgagg ctgggtacta caagctgtcc ggtgaggcct atggctttgt
      661 ggccaggatc gatggcagcg gcaactttca agtcctgctg tcagacagat acttcaacaa
      721 gacctgcggg ctgtgtggca actttaacat ctttgctgaa gatgacttta tgacccaaga
      781 agggaccttg acctcggacc cttatgactt tgccaactca tgggctctga gcagtggaga
      841 acagtggtgt gaacgggcat ctcctcccag cagctcatgc aacatctcct ctggggaaat
      901 gcagaagggc ctgtgggagc agtgccagct tctgaagagc acctcggtgt ttgcccgctg
      961 ccaccctctg gtggaccccg agccttttgt ggccctgtgt gagaagactt tgtgtgagtg
     1021 tgctgggggg ctggagtgcg cctgccctgc cctcctggag tacgcccgga cctgtgccca
     1081 ggagggaatg gtgctgtacg gctggaccga ccacagcgcg tgcagcccag tgtgccctgc
     1141 tggtatggag tataggcagt gtgtgtcccc ttgcgccagg acctgccaga gcctgcacat
     1201 caatgaaatg tgtcaggagc gatgcgtgga tggctgcagc tgccctgagg gacagctcct
     1261 ggatgaaggc ctctgcgtgg agagcaccga gtgtccctgc gtgcattccg gaaagcgcta
     1321 ccctcccggc acctccctct ctcgagactg caacacctgc atttgccgaa acagccagtg
     1381 gatctgcagc aatgaagaat gtccagggga gtgccttgtc acaggtcaat cacacttcaa
     1441 gagctttgac aacagatact tcaccttcag tgggatctgc cagtacctgc tggcccggga
     1501 ttgccaggac cactccttct ccattgtcat tgagactgtc cagtgtgctg atgaccgcga
     1561 cgctgtgtgc acccgctccg tcaccgtccg gctgcctggc ctgcacaaca gccttgtgaa
     1621 actgaagcat ggggcaggag ttgccatgga tggccaggac gtccagctcc ccctcctgaa
     1681 aggtgacctc cgcatccagc atacagtgac ggcctccgtg cgcctcagct acggggagga
     1741 cctgcagatg gactgggatg gccgcgggag gctgctggtg aagctgtccc ccgtctatgc
     1801 cgggaagacc tgcggcctgt gtgggaatta caatggcaac cagggcgacg acttccttac
     1861 cccctctggg ctggcggagc cccgggtgga ggacttcggg aacgcctgga agctgcacgg
     1921 ggactgccag gacctgcaga agcagcacag cgatccctgc gccctcaacc cgcgcatgac
     1981 caggttctcc gaggaggcgt gcgcggtcct gacgtccccc acattcgagg cctgccatcg
     2041 tgccgtcagc ccgctgccct acctgcggaa ctgccgctac gacgtgtgct cctgctcgga
     2101 cggccgcgag tgcctgtgcg gcgccctggc cagctatgcc gcggcctgcg cggggagagg
     2161 cgtgcgcgtc gcgtggcgcg agccaggccg ctgtgagctg aactgcccga aaggccaggt
     2221 gtacctgcag tgcgggaccc cctgcaacct gacctgccgc tctctctctt acccggatga
     2281 ggaatgcaat gaggcctgcc tggagggctg cttctgcccc ccagggctct acatggatga
     2341 gaggggggac tgcgtgccca aggcccagtg cccctgttac tatgacggtg agatcttcca
     2401 gccagaagac atcttctcag accatcacac catgtgctac tgtgaggatg gcttcatgca
     2461 ctgtaccatg agtggagtcc ccggaagctt gctgcctgac gctgtcctca gcagtcccct
     2521 gtctcatcgc agcaaaagga gcctatcctg tcggcccccc atggtcaagc tggtgtgtcc
     2581 cgctgacaac ctgcgggctg aagggctcga gtgtaccaaa acgtgccaga actatgacct
     2641 ggagtgcatg agcatgggct gtgtctctgg ctgcctctgc cccccgggca tggtccggca
     2701 tgagaacaga tgtgtggccc tggaaaggtg tccctgcttc catcagggca aggagtatgc
     2761 ccctggagaa acagtgaaga ttggctgcaa cacttgtgtc tgtcaggacc ggaagtggaa
     2821 ctgcacagac catgtgtgtg atgccacgtg ctccacgatc ggcatggccc actacctcac
     2881 cttcgacggg ctcaaatacc tgttccccgg ggagtgccag tacgttctgg tgcaggatta
     2941 ctgcggcagt aaccctggga cctttcggat cctagtgggg aataagggat gcagccaccc
     3001 ctcagtgaaa tgcaagaaac gggtcaccat cctggtggag ggaggagaga ttgagctgtt
     3061 tgacggggag gtgaatgtga agaggcccat gaaggatgag actcactttg aggtggtgga
     3121 gtctggccgg tacatcattc tgctgctggg caaagccctc tccgtggtct gggaccgcca
     3181 cctgagcatc tccgtggtcc tgaagcagac ataccaggag aaagtgtgtg gcctgtgtgg
     3241 gaattttgat ggcatccaga acaatgacct caccagcagc aacctccaag tggaggaaga
     3301 ccctgtggac tttgggaact cctggaaagt gagctcgcag tgtgctgaca ccagaaaagt
     3361 gcctctggac tcatcccctg ccacctgcca taacaacatc atgaagcaga cgatggtgga
     3421 ttcctcctgt agaatcctta ccagtgacgt cttccaggac tgcaacaagc tggtggaccc
     3481 cgagccatat ctggatgtct gcatttacga cacctgctcc tgtgagtcca ttggggactg
     3541 cgcctgcttc tgcgacacca ttgctgccta tgcccacgtg tgtgcccagc atggcaaggt
     3601 ggtgacctgg aggacggcca cattgtgccc ccagagctgc gaggagagga atctccggga
     3661 gaacgggtat gagtgtgagt ggcgctataa cagctgtgca cctgcctgtc aagtcacgtg
     3721 tcagcaccct gagccactgg cctgccctgt gcagtgtgtg gagggctgcc atgcccactg
     3781 ccctccaggg aaaatcctgg atgagctttt gcagacctgc gttgaccctg aagactgtcc
     3841 agtgtgtgag gtggctggcc ggcgttttgc ctcaggaaag aaagtcacct tgaatcccag
     3901 tgaccctgag cactgccaga tttgccactg tgatgttgtc aacctcacct gtgaagcctg
     3961 ccaggagccg ggaggcctgg tggtgcctcc cacagatgcc ccggtgagcc ccaccactct
     4021 gtatgtggag gacatctcgg aaccgccgtt gcacgatttc tactgcagca ggctactgga
     4081 cctggtcttc ctgctggatg gctcctccag gctgtccgag gctgagtttg aagtgctgaa
     4141 ggcctttgtg gtggacatga tggagcggct gcgcatctcc cagaagtggg tccgcgtggc
     4201 cgtggtggag taccacgacg gctcccacgc ctacatcggg ctcaaggacc ggaagcgacc
     4261 gtcagagctg cggcgcattg ccagccaggt gaagtatgcg ggcagccagg tggcctccac
     4321 cagcgaggtc ttgaaataca cactgttcca aatcttcagc aagatcgacc gccctgaagc
     4381 ctcccgcatc accctgctcc tgatggccag ccaggagccc caacggatgt cccggaactt
     4441 tgtccgctac gtccagggcc tgaagaagaa gaaggtcatt gtgatcccgg tgggcattgg
     4501 gccccatgcc aacctcaagc agatccgcct catcgagaag caggcccctg agaacaaggc
     4561 cttcgtgctg agcagtgtgg atgagctgga gcagcaaagg gacgagatcg ttagctacct
     4621 ctgtgacctt gcccctgaag cccctcctcc tactctgccc cccgacatgg cacaagtcac
     4681 tgtgggcccg gggctcttgg gggtttcgac cctggggccc aagaggaact ccatggttct
     4741 ggatgtggcg ttcgtcctgg aaggatcgga caaaattggt gaagccgact tcaacaggag
     4801 caaggagttc atggaggagg tgattcagcg gatggatgtg ggccaggaca gcatccacgt
     4861 cacggtgctg cagtactcct acatggtgac tgtggagtac cccttcagcg aggcacagtc
     4921 caaaggggac atcctgcagc gggtgcgaga gatccgctac cagggcggca acaggaccaa
     4981 cactgggctg gccctgcggt acctctctga ccacagcttc ttggtcagcc agggtgaccg
     5041 ggagcaggcg cccaacctgg tctacatggt caccggaaat cctgcctctg atgagatcaa
     5101 gaggctgcct ggagacatcc aggtggtgcc cattggagtg ggccctaatg ccaacgtgca
     5161 ggagctggag aggattggct ggcccaatgc ccctatcctc atccaggact ttgagacgct
     5221 cccccgagag gctcctgacc tggtgctgca gaggtgctgc tccggagagg ggctgcagat
     5281 ccccaccctc tcccctgcac ctgactgcag ccagcccctg gacgtgatcc ttctcctgga
     5341 tggctcctcc agtttcccag cttcttattt tgatgaaatg aagagtttcg ccaaggcttt
     5401 catttcaaaa gccaatatag ggcctcgtct cactcaggtg tcagtgctgc agtatggaag
     5461 catcaccacc attgacgtgc catggaacgt ggtcccggag aaagcccatt tgctgagcct
     5521 tgtggacgtc atgcagcggg agggaggccc cagccaaatc ggggatgcct tgggctttgc
     5581 tgtgcgatac ttgacttcag aaatgcatgg tgccaggccg ggagcctcaa aggcggtggt
     5641 catcctggtc acggacgtct ctgtggattc agtggatgca gcagctgatg ccgccaggtc
     5701 caacagagtg acagtgttcc ctattggaat tggagatcgc tacgatgcag cccagctacg
     5761 gatcttggca ggcccagcag gcgactccaa cgtggtgaag ctccagcgaa tcgaagacct
     5821 ccctaccatg gtcaccttgg gcaattcctt cctccacaaa ctgtgctctg gatttgttag
     5881 gatttgcatg gatgaggatg ggaatgagaa gaggcccggg gacgtctgga ccttgccaga
     5941 ccagtgccac accgtgactt gccagccaga tggccagacc ttgctgaaga gtcatcgggt
     6001 caactgtgac cgggggctga ggccttcgtg ccctaacagc cagtcccctg ttaaagtgga
     6061 agagacctgt ggctgccgct ggacctgccc ctgcgtgtgc acaggcagct ccactcggca
     6121 catcgtgacc tttgatgggc agaatttcaa gctgactggc agctgttctt atgtcctatt
     6181 tcaaaacaag gagcaggacc tggaggtgat tctccataat ggtgcctgca gccctggagc
     6241 aaggcagggc tgcatgaaat ccatcgaggt gaagcacagt gccctctccg tcgagctgca
     6301 cagtgacatg gaggtgacgg tgaatgggag actggtctct gttccttacg tgggtgggaa
     6361 catggaagtc aacgtttatg gtgccatcat gcatgaggtc agattcaatc accttggtca
     6421 catcttcaca ttcactccac aaaacaatga gttccaactg cagctcagcc ccaagacttt
     6481 tgcttcaaag acgtatggtc tgtgtgggat ctgtgatgag aacggagcca atgacttcat
     6541 gctgagggat ggcacagtca ccacagactg gaaaacactt gttcaggaat ggactgtgca
     6601 gcggccaggg cagacgtgcc agcccatcct ggaggagcag tgtcttgtcc ccgacagctc
     6661 ccactgccag gtcctcctct taccactgtt tgctgaatgc cacaaggtcc tggctccagc
     6721 cacattctat gccatctgcc agcaggacag ttgccaccag gagcaagtgt gtgaggtgat
     6781 cgcctcttat gcccacctct gtcggaccaa cggggtctgc gttgactgga ggacacctga
     6841 tttctgtgct atgtcatgcc caccatctct ggtctacaac cactgtgagc atggctgtcc
     6901 ccggcactgt gatggcaacg tgagctcctg tggggaccat ccctccgaag gctgtttctg
     6961 ccctccagat aaagtcatgt tggaaggcag ctgtgtccct gaagaggcct gcactcagtg
     7021 cattggtgag gatggagtcc agcaccagtt cctggaagcc tgggtcccgg accaccagcc
     7081 ctgtcagatc tgcacatgcc tcagcgggcg gaaggtcaac tgcacaacgc agccctgccc
     7141 cacggccaaa gctcccacgt gtggcctgtg tgaagtagcc cgcctccgcc agaatgcaga
     7201 ccagtgctgc cccgagtatg agtgtgtgtg tgacccagtg agctgtgacc tgcccccagt
     7261 gcctcactgt gaacgtggcc tccagcccac actgaccaac cctggcgagt gcagacccaa
     7321 cttcacctgc gcctgcagga aggaggagtg caaaagagtg tccccaccct cctgcccccc
     7381 gcaccgtttg cccacccttc ggaagaccca gtgctgtgat gagtatgagt gtgcctgcaa
     7441 ctgtgtcaac tccacagtga gctgtcccct tgggtacttg gcctcaactg ccaccaatga
     7501 ctgtggctgt accacaacca cctgccttcc cgacaaggtg tgtgtccacc gaagcaccat
     7561 ctaccctgtg ggccagttct gggaggaggg ctgcgatgtg tgcacctgca ccgacatgga
     7621 ggatgccgtg atgggcctcc gcgtggccca gtgctcccag aagccctgtg aggacagctg
     7681 tcggtcgggc ttcacttacg ttctgcatga aggcgagtgc tgtggaaggt gcctgccatc
     7741 tgcctgtgag gtggtgactg gctcaccgcg gggggactcc cagtcttcct ggaagagtgt
     7801 cggctcccag tgggcctccc cggagaaccc ctgcctcatc aatgagtgtg tccgagtgaa
     7861 ggaggaggtc tttatacaac aaaggaacgt ctcctgcccc cagctggagg tccctgtctg
     7921 cccctcgggc tttcagctga gctgtaagac ctcagcgtgc tgcccaagct gtcgctgtga
     7981 gcgcatggag gcctgcatgc tcaatggcac tgtcattggg cccgggaaga ctgtgatgat
     8041 cgatgtgtgc acgacctgcc gctgcatggt gcaggtgggg gtcatctctg gattcaagct
     8101 ggagtgcagg aagaccacct gcaacccctg ccccctgggt tacaaggaag aaaataacac
     8161 aggtgaatgt tgtgggagat gtttgcctac ggcttgcacc attcagctaa gaggaggaca
     8221 gatcatgaca ctgaagcgtg atgagacgct ccaggatggc tgtgatactc acttctgcaa
     8281 ggtcaatgag agaggagagt acttctggga gaagagggtc acaggctgcc caccctttga
     8341 tgaacacaag tgtctggctg agggaggtaa aattatgaaa attccaggca cctgctgtga
     8401 cacatgtgag gagcctgagt gcaacgacat cactgccagg ctgcagtatg tcaaggtggg
     8461 aagctgtaag tctgaagtag aggtggatat ccactactgc cagggcaaat gtgccagcaa
     8521 agccatgtac tccattgaca tcaacgatgt gcaggaccag tgctcctgct gctctccgac
     8581 acggacggag cccatgcagg tggccctgca ctgcaccaat ggctctgttg tgtaccatga
     8641 ggttctcaat gccatggagt gcaaatgctc ccccaggaag tgcagcaagt gaggctgctg
     8701 cagctgcatg ggtgcctgct gctgcctgcc ttggcctgat ggccaggcca gagtgctgcc
     8761 agtcctctgc atgttctgct cttgtgccct tctgagccca caataaaggc tgagctctta
     8821 tcttgcaaaa
//
LOCUS       NM_000553               7575 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens WRN RecQ like helicase (WRN), mRNA.
ACCESSION   NM_000553
VERSION     NM_000553.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7575)
  AUTHORS   Shin S, Hyun K, Lee J, Joo D, Kulikowicz T, Bohr VA, Kim J and Hohng
            S.
  TITLE     Werner syndrome protein works as a dimer for unwinding and
            replication fork regression
  JOURNAL   Nucleic Acids Res 51 (1), 337-348 (2023)
   PUBMED   36583333
  REMARK    GeneRIF: Werner syndrome protein works as a dimer for unwinding and
            replication fork regression.
REFERENCE   2  (bases 1 to 7575)
  AUTHORS   Sezer A, Kayhan G, Gursoy TR, Eyuboglu TS and Percin FE.
  TITLE     A homozygous missense variant in the WRN gene segregating in a
            family with progressive pulmonary failure with recurrent spontaneous
            pneumothorax and interstitial lung disease
  JOURNAL   Am J Med Genet A 191 (1), 220-227 (2023)
   PUBMED   36214313
  REMARK    GeneRIF: A homozygous missense variant in the WRN gene segregating
            in a family with progressive pulmonary failure with recurrent
            spontaneous pneumothorax and interstitial lung disease.
REFERENCE   3  (bases 1 to 7575)
  AUTHORS   Datta A and Brosh RM Jr.
  TITLE     WRN rescues replication forks compromised by a BRCA2 deficiency:
            Predictions for how inhibition of a helicase that suppresses
            premature aging tilts the balance to fork demise and chromosomal
            instability in cancer
  JOURNAL   Bioessays 44 (8), e2200057 (2022)
   PUBMED   35751457
  REMARK    GeneRIF: WRN rescues replication forks compromised by a BRCA2
            deficiency: Predictions for how inhibition of a helicase that
            suppresses premature aging tilts the balance to fork demise and
            chromosomal instability in cancer.
REFERENCE   4  (bases 1 to 7575)
  AUTHORS   Marabitti V, Valenzisi P, Lillo G, Malacaria E, Palermo V, Pichierri
            P and Franchitto A.
  TITLE     R-Loop-Associated Genomic Instability and Implication of WRN and
            WRNIP1
  JOURNAL   Int J Mol Sci 23 (3), 1547 (2022)
   PUBMED   35163467
  REMARK    GeneRIF: R-Loop-Associated Genomic Instability and Implication of
            WRN and WRNIP1. Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 7575)
  AUTHORS   Epiney DG, Salameh C, Cassidy D, Zhou LT, Kruithof J, Milutinovic R,
            Andreani TS, Schirmer AE and Bolterstein E.
  TITLE     Characterization of Stress Responses in a Drosophila Model of Werner
            Syndrome
  JOURNAL   Biomolecules 11 (12), 1868 (2021)
   PUBMED   34944512
  REMARK    GeneRIF: Characterization of Stress Responses in a Drosophila Model
            of Werner Syndrome. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 7575)
  AUTHORS   Matsumoto T, Imamura O, Yamabe Y, Kuromitsu J, Tokutake Y, Shimamoto
            A, Suzuki N, Satoh M, Kitao S, Ichikawa K, Kataoka H, Sugawara K,
            Thomas W, Mason B, Tsuchihashi Z, Drayna D, Sugawara M, Sugimoto M,
            Furuichi Y and Goto M.
  TITLE     Mutation and haplotype analyses of the Werner's syndrome gene based
            on its genomic structure: genetic epidemiology in the Japanese
            population
  JOURNAL   Hum Genet 100 (1), 123-130 (1997)
   PUBMED   9225981
REFERENCE   7  (bases 1 to 7575)
  AUTHORS   Ye L, Miki T, Nakura J, Oshima J, Kamino K, Rakugi H, Ikegami H,
            Higaki J, Edland SD, Martin GM and Ogihara T.
  TITLE     Association of a polymorphic variant of the Werner helicase gene
            with myocardial infarction in a Japanese population
  JOURNAL   Am J Med Genet 68 (4), 494-498 (1997)
   PUBMED   9021029
  REMARK    Erratum:[Am J Med Genet 1997 May 2;70(1):103]
REFERENCE   8  (bases 1 to 7575)
  AUTHORS   Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, Alisch R, Matthews S,
            Nakura J, Miki T, Ouais S, Martin GM, Mulligan J and Schellenberg
            GD.
  TITLE     Positional cloning of the Werner's syndrome gene
  JOURNAL   Science 272 (5259), 258-262 (1996)
   PUBMED   8602509
REFERENCE   9  (bases 1 to 7575)
  AUTHORS   Oshima,J., Martin,G.M. and Hisama,F.M.
  TITLE     Werner Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301687
REFERENCE   10  (bases 1 to 7575)
  AUTHORS   Goto M, Rubenstein M, Weber J, Woods K and Drayna D.
  TITLE     Genetic linkage of Werner's syndrome to five markers on chromosome 8
  JOURNAL   Nature 355 (6362), 735-738 (1992)
   PUBMED   1741060
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.890559.1, AF091214.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000298139.7/ ENSP00000298139.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC084736.5 and AC009563.12.
            On Jul 25, 2019 this sequence version replaced NM_000553.5.
            Summary: This gene encodes a member of the RecQ subfamily of DNA
            helicase proteins. The encoded nuclear protein is important in the
            maintenance of genome stability and plays a role in DNA repair,
            replication, transcription and telomere maintenance. This protein
            contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent
            helicase domain and RQC (RecQ helicase conserved region) domain in
            its central region, and a C-terminal HRDC (helicase RNase D
            C-terminal) domain and nuclear localization signal. Defects in this
            gene are the cause of Werner syndrome, an autosomal recessive
            disorder characterized by accelerated aging and an elevated risk
            for certain cancers. [provided by RefSeq, Aug 2017].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7575
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p12"
     gene            1..7575
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="WRN RecQ like helicase"
                     /db_xref="GeneID:7486"
                     /db_xref="HGNC:HGNC:12791"
                     /db_xref="MIM:604611"
     misc_feature    226..228
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="upstream in-frame stop codon"
     CDS             241..4539
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /EC_number="3.6.4.12"
                     /note="Werner syndrome ATP-dependent helicase; Werner
                     syndrome protein; Werner syndrome, RecQ helicase-like;
                     exonuclease WRN; recQ protein-like 2; DNA helicase,
                     RecQ-like type 3; Werner syndrome RecQ like helicase"
                     /codon_start=1
                     /product="bifunctional 3'-5' exonuclease/ATP-dependent
                     helicase WRN"
                     /protein_id="NP_000544.2"
                     /db_xref="CCDS:CCDS6082.1"
                     /db_xref="GeneID:7486"
                     /db_xref="HGNC:HGNC:12791"
                     /db_xref="MIM:604611"
                     /translation="MSEKKLETTAQQRKCPEWMNVQNKRCAVEERKACVRKSVFEDDLP
                     FLEFTGSIVYSYDASDCSFLSEDISMSLSDGDVVGFDMEWPPLYNRGKLGKVALIQLCV
                     SESKCYLFHVSSMSVFPQGLKMLLENKAVKKAGVGIEGDQWKLLRDFDIKLKNFVELTD
                     VANKKLKCTETWSLNSLVKHLLGKQLLKDKSIRCSNWSKFPLTEDQKLYAATDAYAGFI
                     IYRNLEILDDTVQRFAINKEEEILLSDMNKQLTSISEEVMDLAKHLPHAFSKLENPRRV
                     SILLKDISENLYSLRRMIIGSTNIETELRPSNNLNLLSFEDSTTGGVQQKQIREHEVLI
                     HVEDETWDPTLDHLAKHDGEDVLGNKVERKEDGFEDGVEDNKLKENMERACLMSLDITE
                     HELQILEQQSQEEYLSDIAYKSTEHLSPNDNENDTSYVIESDEDLEMEMLKHLSPNDNE
                     NDTSYVIESDEDLEMEMLKSLENLNSGTVEPTHSKCLKMERNLGLPTKEEEEDDENEAN
                     EGEEDDDKDFLWPAPNEEQVTCLKMYFGHSSFKPVQWKVIHSVLEERRDNVAVMATGYG
                     KSLCFQYPPVYVGKIGLVISPLISLMEDQVLQLKMSNIPACFLGSAQSENVLTDIKLGK
                     YRIVYVTPEYCSGNMGLLQQLEADIGITLIAVDEAHCISEWGHDFRDSFRKLGSLKTAL
                     PMVPIVALTATASSSIREDIVRCLNLRNPQITCTGFDRPNLYLEVRRKTGNILQDLQPF
                     LVKTSSHWEFEGPTIIYCPSRKMTQQVTGELRKLNLSCGTYHAGMSFSTRKDIHHRFVR
                     DEIQCVIATIAFGMGINKADIRQVIHYGAPKDMESYYQEIGRAGRDGLQSSCHVLWAPA
                     DINLNRHLLTEIRNEKFRLYKLKMMAKMEKYLHSSRCRRQIILSHFEDKQVQKASLGIM
                     GTEKCCDNCRSRLDHCYSMDDSEDTSWDFGPQAFKLLSAVDILGEKFGIGLPILFLRGS
                     NSQRLADQYRRHSLFGTGKDQTESWWKAFSRQLITEGFLVEVSRYNKFMKICALTKKGR
                     NWLHKANTESQSLILQANEELCPKKLLLPSSKTVSSGTKEHCYNQVPVELSTEKKSNLE
                     KLYSYKPCDKISSGSNISKKSIMVQSPEKAYSSSQPVISAQEQETQIVLYGKLVEARQK
                     HANKMDVPPAILATNKILVDMAKMRPTTVENVKRIDGVSEGKAAMLAPLLEVIKHFCQT
                     NSVQTDLFSSTKPQEEQKTSLVAKNKICTLSQSMAITYSLFQEKKMPLKSIAESRILPL
                     MTIGMHLSQAVKAGCPLDLERAGLTPEVQKIIADVIRNPPVNSDMSKISLIRMLVPENI
                     DTYLIHMAIEILKHGPDSGLQPSCDVNKRRCFPGSEEICSSSKRSKEEVGINTETSSAE
                     RKRRLPVWFAKGSDTSKKLMDKTKRGGLFS"
     misc_feature    244..1071
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14191.2);
                     Region: Interaction with WRNIP1.
                     /evidence=ECO:0000250|UniProtKB:O09053"
     misc_feature    244..246
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q14191.2); acetylation site"
     misc_feature    271..309
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14191.2);
                     Region: KBM 1. /evidence=ECO:0000305|PubMed:27063109"
     misc_feature    673..675
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="Interaction with DNA.
                     /evidence=ECO:0000305|PubMed:20159463; propagated from
                     UniProtKB/Swiss-Prot (Q14191.2); other site"
     misc_feature    1510..1671
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14191.2);
                     Region: 2 X 27 AA tandem repeats of
                     H-L-S-P-N-D-N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L-K"
     misc_feature    1516..1518
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q14191.2); phosphorylation site"
     misc_feature    1558..1560
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q14191.2); phosphorylation site"
     misc_feature    1597..1599
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q14191.2); phosphorylation site"
     misc_feature    1639..1641
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q14191.2); phosphorylation site"
     misc_feature    1672..1674
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14191.2); phosphorylation site"
     misc_feature    1732..1827
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14191.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2242..2253
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14191.2);
                     Region: DEAH box"
     misc_feature    3199..3219
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14191.2);
                     Region: Interaction with DNA.
                     /evidence=ECO:0000269|PubMed:20159463"
     misc_feature    3349..3351
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="Interaction with DNA.
                     /evidence=ECO:0000305|PubMed:20159463; propagated from
                     UniProtKB/Swiss-Prot (Q14191.2); other site"
     misc_feature    3637..3639
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14191.2); phosphorylation site"
     misc_feature    4438..4440
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14191.2); phosphorylation site"
     misc_feature    4447..4476
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14191.2);
                     Region: KBM 2. /evidence=ECO:0000305|PubMed:27063109"
     misc_feature    4495..4536
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14191.2);
                     Region: XLM. /evidence=ECO:0000305|PubMed:27063109"
     regulatory      5168..5173
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="hexamer: AATAAA"
     polyA_site      5193
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="major polyA site"
     regulatory      7335..7340
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="hexamer: AACAAG"
     polyA_site      7353
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
     regulatory      7544..7549
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
                     /note="hexamer: ATTAAA"
     polyA_site      7575
                     /gene="WRN"
                     /gene_synonym="RECQ3; RECQL2; RECQL3"
ORIGIN
        1 gtgtactgtg tgcgccgggg aggcgccggc ttgtactcgg cagcgcggga ataaagtttg
       61 ctgatttggt gtctagcctg gatgcctggg ttgcaggccc tgcttgtggt ggcgctccac
      121 agtcatccgg ctgaagaaga cctgttggac tggatcttct cgggttttct ttcagatatt
      181 gttttgtatt tacccatgaa gacattgttt tttggactct gcaaatagga catttcaaag
      241 atgagtgaaa aaaaattgga aacaactgca cagcagcgga aatgtcctga atggatgaat
      301 gtgcagaata aaagatgtgc tgtagaagaa agaaaggcat gtgttcggaa gagtgttttt
      361 gaagatgacc tccccttctt agaattcact ggatccattg tgtatagtta cgatgctagt
      421 gattgctctt tcctgtcaga agatattagc atgagtctat cagatgggga tgtggtggga
      481 tttgacatgg agtggccacc attatacaat agagggaaac ttggcaaagt tgcactaatt
      541 cagttgtgtg tttctgagag caaatgttac ttgttccacg tttcttccat gtcagttttt
      601 ccccagggat taaaaatgtt gcttgaaaat aaagcagtta aaaaggcagg tgtaggaatt
      661 gaaggagatc agtggaaact tctacgtgac tttgatatca aattgaagaa ttttgtggag
      721 ttgacagatg ttgccaataa aaagctgaaa tgcacagaga cctggagcct taacagtctg
      781 gttaaacacc tcttaggtaa acagctcctg aaagacaagt ctatccgctg tagcaattgg
      841 agtaaatttc ctctcactga ggaccagaaa ctgtatgcag ccactgatgc ttatgctggt
      901 tttattattt accgaaattt agagattttg gatgatactg tgcaaaggtt tgctataaat
      961 aaagaggaag aaatcctact tagcgacatg aacaaacagt tgacttcaat ctctgaggaa
     1021 gtgatggatc tggctaagca tcttcctcat gctttcagta aattggaaaa cccacggagg
     1081 gtttctatct tactaaagga tatttcagaa aatctatatt cactgaggag gatgataatt
     1141 gggtctacta acattgagac tgaactgagg cccagcaata atttaaactt attatccttt
     1201 gaagattcaa ctactggggg agtacaacag aaacaaatta gagaacatga agttttaatt
     1261 cacgttgaag atgaaacatg ggacccaaca cttgatcatt tagctaaaca tgatggagaa
     1321 gatgtacttg gaaataaagt ggaacgaaaa gaagatggat ttgaagatgg agtagaagac
     1381 aacaaattga aagagaatat ggaaagagct tgtttgatgt cgttagatat tacagaacat
     1441 gaactccaaa ttttggaaca gcagtctcag gaagaatatc ttagtgatat tgcttataaa
     1501 tctactgagc atttatctcc caatgataat gaaaacgata cgtcctatgt aattgagagt
     1561 gatgaagatt tagaaatgga gatgcttaag catttatctc ccaatgataa tgaaaacgat
     1621 acgtcctatg taattgagag tgatgaagat ttagaaatgg agatgcttaa gtctttagaa
     1681 aacctcaata gtggcacggt agaaccaact cattctaaat gcttaaaaat ggaaagaaat
     1741 ctgggtcttc ctactaaaga agaagaagaa gatgatgaaa atgaagctaa tgaaggggaa
     1801 gaagatgatg ataaggactt tttgtggcca gcacccaatg aagagcaagt tacttgcctc
     1861 aagatgtact ttggccattc cagttttaaa ccagttcagt ggaaagtgat tcattcagta
     1921 ttagaagaaa gaagagataa tgttgctgtc atggcaactg gatatggaaa gagtttgtgc
     1981 ttccagtatc cacctgttta tgtaggcaag attggccttg ttatctctcc ccttatttct
     2041 ctgatggaag accaagtgct acagcttaaa atgtccaaca tcccagcttg cttccttgga
     2101 tcagcacagt cagaaaatgt tctaacagat attaaattag gtaaataccg gattgtatac
     2161 gtaactccag aatactgttc aggtaacatg ggcctgctcc agcaacttga ggctgatatt
     2221 ggtatcacgc tcattgctgt ggatgaggct cactgtattt ctgagtgggg gcatgatttt
     2281 agggattcat tcaggaagtt gggctcccta aagacagcac tgccaatggt tccaatcgtt
     2341 gcacttactg ctactgcaag ttcttcaatc cgggaagaca ttgtacgttg cttaaatctg
     2401 agaaatcctc agatcacctg tactggtttt gatcgaccaa acctgtattt agaagttagg
     2461 cgaaaaacag ggaatatcct tcaggatctg cagccatttc ttgtcaaaac aagttcccac
     2521 tgggaatttg aaggtccaac aatcatctac tgtccttcta gaaaaatgac acaacaagtt
     2581 acaggtgaac ttaggaaact gaatctatcc tgtggaacat accatgcggg catgagtttt
     2641 agcacaagga aagacattca tcataggttt gtaagagatg aaattcagtg tgtcatagct
     2701 accatagctt ttggaatggg cattaataaa gctgacattc gccaagtcat tcattacggt
     2761 gctcctaagg acatggaatc atattatcag gagattggta gagctggtcg tgatggactt
     2821 caaagttctt gtcacgtcct ctgggctcct gcagacatta acttaaatag gcaccttctt
     2881 actgagatac gtaatgagaa gtttcgatta tacaaattaa agatgatggc aaagatggaa
     2941 aaatatcttc attctagcag atgtaggaga caaatcatct tgtctcattt tgaggacaaa
     3001 caagtacaaa aagcctcctt gggaattatg ggaactgaaa aatgctgtga taattgcagg
     3061 tccagattgg atcattgcta ttccatggat gactcagagg atacatcctg ggactttggt
     3121 ccacaagcat ttaagctttt gtctgctgtg gacatcttag gcgaaaaatt tggaattggg
     3181 cttccaattt tatttctccg aggatctaat tctcagcgtc ttgccgatca atatcgcagg
     3241 cacagtttat ttggcactgg caaggatcaa acagagagtt ggtggaaggc tttttcccgt
     3301 cagctgatca ctgagggatt cttggtagaa gtttctcggt ataacaaatt tatgaagatt
     3361 tgcgccctta cgaaaaaggg tagaaattgg cttcataaag ctaatacaga atctcagagc
     3421 ctcatccttc aagctaatga agaattgtgt ccaaagaagt tgcttctgcc tagttcgaaa
     3481 actgtatctt cgggcaccaa agagcattgt tataatcaag taccagttga attaagtaca
     3541 gagaagaagt ctaacttgga gaagttatat tcttataaac catgtgataa gatttcttct
     3601 gggagtaaca tttctaaaaa aagtatcatg gtacagtcac cagaaaaagc ttacagttcc
     3661 tcacagcctg ttatttcggc acaagagcag gagactcaga ttgtgttata tggcaaattg
     3721 gtagaagcta ggcagaaaca tgccaataaa atggatgttc ccccagctat tctggcaaca
     3781 aacaagatac tggtggatat ggccaaaatg agaccaacta cggttgaaaa cgtaaaaagg
     3841 attgatggtg tttctgaagg caaagctgcc atgttggccc ctctgttgga agtcatcaaa
     3901 catttctgcc aaacaaatag tgttcagaca gacctctttt caagtacaaa acctcaagaa
     3961 gaacagaaga cgagtctggt agcaaaaaat aaaatatgca cactttcaca gtctatggcc
     4021 atcacatact ctttattcca agaaaagaag atgcctttga agagcatagc tgagagcagg
     4081 attctgcctc tcatgacaat tggcatgcac ttatcccaag cggtgaaagc tggctgcccc
     4141 cttgatttgg agcgagcagg cctgactcca gaggttcaga agattattgc tgatgttatc
     4201 cgaaaccctc ccgtcaactc agatatgagt aaaattagcc taatcagaat gttagttcct
     4261 gaaaacattg acacgtacct tatccacatg gcaattgaga tccttaaaca tggtcctgac
     4321 agcggacttc aaccttcatg tgatgtcaac aaaaggagat gttttcccgg ttctgaagag
     4381 atctgttcaa gttctaagag aagcaaggaa gaagtaggca tcaatactga gacttcatct
     4441 gcagagagaa agagacgatt acctgtgtgg tttgccaaag gaagtgatac cagcaagaaa
     4501 ttaatggaca aaacgaaaag gggaggtctt tttagttaag ctggcaatta ccagaacaat
     4561 tatgtttctt gctgtattat aagaggatag ctatatttta tttctgaaga gtaaggagta
     4621 gtattttggc ttaaaaatca ttctaattac aaagttcact gtttattgaa gaactggcat
     4681 cttaaatcag ccttccgcaa ttcatgtagt ttctgggtct tctgggagcc tacgtgagta
     4741 catcacctaa cagaatatta aattagactt cctgtaagat tgctttaaga aactgttact
     4801 gtcctgtttt ctaatctctt tattaaaaca gtgtatttgg aaaatgttat gtgctctgat
     4861 ttgatataga taacagatta gtagttacat ggtaattatg tgatataaaa tattcatata
     4921 ttatcaaaat tctgttttgt aaatgtaaga aagcatagtt attttacaaa ttgtttttac
     4981 tgtcttttga agaagttctt aaatacgttg ttaaatggta ttagttgacc agggcagtga
     5041 aaatgaaacc gcattttggg tgccattaaa tagggaaaaa acatgtaaaa aatgtaaaat
     5101 ggagaccaat tgcactaggc aagtgtatat tttgtatttt atatacaatt tctattattt
     5161 ttcaagtaat aaaacaatgt ttttcatact gaatattata tatatatttt ttagctttca
     5221 tttacttaat tattttaagt acctttattt ttccaggatg tcagaatttg attctaatct
     5281 ctcttatgta gcacatgtga cttaatttaa aacctatact gtgacacaga gttgggtaaa
     5341 cgatgattat ttaactttaa gcagttcacc atccatttca aagcctttga ttggcttttt
     5401 tgtaaataaa aataacttgt taagaaacaa atatatctgt catagaagaa ctagaaaatc
     5461 cagggaagtg agaaaaatga aaataaaaat cattcatagt tttactagta gctaatcaca
     5521 gtcaacctct tttgtgtatc ccaccagact tttttatatt catttgtttt tagttaaaat
     5581 ataaaagtct cgtatattcc catttttctg cattgcatta ccagaaggta gtggcgccta
     5641 ttaaatatgt gatatgttgt tgtccagcca tggcttctgc atttgcatgc ttttgtgtgt
     5701 gcatctgcaa taccctgtga atatcctgtg tgatggagtg gcaagtacgc acagacacgt
     5761 ctgctgcatg cctaggtacg aggctgtctc caggagaagc acttgtttga ttatttgagt
     5821 tgccaattga atttgctgct ttttttcatg gcttgccatt ttcactgaaa agaatgacta
     5881 atgaaaaacg atgattggtt attagatttg gatgtttggc agacattttc tcaaaattga
     5941 actaagttgg cctcttcacg gaaaacaact ggtatttgtt gtgccaatga taaaattgga
     6001 gatttctagc aaaatgtata attttggaaa agttgtgttc ctccactgga agcttgacag
     6061 ctttccttaa cataaagact tctctttctc ttcgctttca ctactactac tactaattct
     6121 tcttctgatt cttcttcttc tccttcttcc ttcttccttc cttcctcctc ctcctccttc
     6181 ttcttcctct tcctcttctt ctttctctct ttccttcctt cccttccctt ccccttcctt
     6241 ccttccttcc ttccttcctc cctccctccc tccctccctc cctccctcct ttctttttct
     6301 ttctctttct ttctttcttt ctctctctct ctctctttct ttctttttct ttctcttttt
     6361 ctttctttca agcagtcctc ccgcctcagt cccccaaaat agtgggatta caggtgtgag
     6421 ccaccatgca cagccttaca taaagccttt tctaatgaga tggatagtaa ttaacaaatg
     6481 tgagtttttg atattatata aagatttttt ctgtgtttcg aagatccgta taactcagtg
     6541 aatcagtatg ttctggatga ctaatatgtg atgttaagaa atcatgactg aggccgggcg
     6601 cggtggctca cgcctgtaat cccagcactt tgggaggccg aggcgggcgg atcacgagat
     6661 caggagatcg agaccaccct ggccaacatg gtgaaacccc gtctctacta aaaatacaaa
     6721 aattagctgg gtgtgttggt gcgtgcctat aatcccagct actcgggagg ctgaggcagg
     6781 agaatcgctt gaactcagga ggcggagatt gcagtgagct gagactgcgc cactgcaccc
     6841 cagcctggcg acagagcaag actccgtctc aaaaataaaa aaagaaatca tgactgggta
     6901 aaagatctgt tcagagtaca agatggacca atggatttga tatatttgaa tataacagag
     6961 tatgaaaaag tttattgata tagtttcaga ttacacactg caactaatct ttaagaaact
     7021 attacttgtc cactttttgg taaaatttca gagaacaatg tccaccatta tctgaacagg
     7081 ctattaaaat actcttctct tttccaacta cgtgcctgtg caaagtcaga tttttttcat
     7141 atacttcagc caaaacagca tatcaaaatg gattgaatgc agaagtagat ctgagaatac
     7201 agccactttt gttaagccag acaatgagat ttgcaaaatg taaacaatgc tgctgttctc
     7261 agtttttaaa aatatgtttt ttaaaagtat ttatgttaat gtgtacttgg tttactactg
     7321 ctatttttaa ataaaacaag aaacattttt aaatgtctgt tttaatttct aaagtggtag
     7381 tgatagatat aacccatatt aataaaagct ctttggggtc ctcagtgatt tttttttaag
     7441 agtatggaag ggttctcaga cctaagagat tgagaaatgc tgatgtaatg ttttattata
     7501 aaggtgtacc atgaattatg taccttactt catattgttg gacattaaag ttgctttcag
     7561 tttttttgtt ttaaa
//
LOCUS       NM_000554               4366 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens cone-rod homeobox (CRX), mRNA.
ACCESSION   NM_000554
VERSION     NM_000554.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4366)
  AUTHORS   Chirco KR, Chew S, Moore AT, Duncan JL and Lamba DA.
  TITLE     Allele-specific gene editing to rescue dominant CRX-associated LCA7
            phenotypes in a retinal organoid model
  JOURNAL   Stem Cell Reports 16 (11), 2690-2702 (2021)
   PUBMED   34653402
  REMARK    GeneRIF: Allele-specific gene editing to rescue dominant
            CRX-associated LCA7 phenotypes in a retinal organoid model.
REFERENCE   2  (bases 1 to 4366)
  AUTHORS   Masurkar SA, Deogharkar A, Bharambe HS and Shirsat NV.
  TITLE     Downregulation of CRX, a Group 3-specific oncogenic transcription
            factor, inhibits TGF-beta/activin signaling in medulloblastoma cells
  JOURNAL   Biochem Biophys Res Commun 568, 76-82 (2021)
   PUBMED   34192607
  REMARK    GeneRIF: Downregulation of CRX, a Group 3-specific oncogenic
            transcription factor, inhibits TGF-beta/activin signaling in
            medulloblastoma cells.
REFERENCE   3  (bases 1 to 4366)
  AUTHORS   Meredith DM, Charville GW, Fletcher CDM and Hornick JL.
  TITLE     Distantly Metastatic Retinoblastoma to Soft Tissue and Bone: A
            Challenging Diagnosis Highlighting the Utility of CRX
  JOURNAL   Am J Surg Pathol 45 (6), 820-824 (2021)
   PUBMED   33165094
  REMARK    GeneRIF: Distantly Metastatic Retinoblastoma to Soft Tissue and
            Bone: A Challenging Diagnosis Highlighting the Utility of CRX.
REFERENCE   4  (bases 1 to 4366)
  AUTHORS   Fujinami-Yokokawa Y, Fujinami K, Kuniyoshi K, Hayashi T, Ueno S,
            Mizota A, Shinoda K, Arno G, Pontikos N, Yang L, Liu X, Sakuramoto
            H, Katagiri S, Mizobuchi K, Kominami T, Terasaki H, Nakamura N,
            Kameya S, Yoshitake K, Miyake Y, Kurihara T, Tsubota K, Miyata H,
            Iwata T and Tsunoda K.
  CONSRTM   Japan Eye Genetics Consortium
  TITLE     Clinical and Genetic Characteristics of 18 Patients from 13 Japanese
            Families with CRX-associated retinal disorder: Identification of
            Genotype-phenotype Association
  JOURNAL   Sci Rep 10 (1), 9531 (2020)
   PUBMED   32533067
  REMARK    GeneRIF: Clinical and Genetic Characteristics of 18 Patients from 13
            Japanese Families with CRX-associated retinal disorder:
            Identification of Genotype-phenotype Association. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 4366)
  AUTHORS   Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD,
            Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA and Zack DJ.
  TITLE     Mutations in the cone-rod homeobox gene are associated with the
            cone-rod dystrophy photoreceptor degeneration
  JOURNAL   Neuron 19 (6), 1329-1336 (1997)
   PUBMED   9427255
REFERENCE   6  (bases 1 to 4366)
  AUTHORS   Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J,
            Ploder L, Bellingham J, Ng D, Herbrick JA, Duncan A, Scherer SW,
            Tsui LC, Loutradis-Anagnostou A, Jacobson SG, Cepko CL, Bhattacharya
            SS and McInnes RR.
  TITLE     Cone-rod dystrophy due to mutations in a novel
            photoreceptor-specific homeobox gene (CRX) essential for maintenance
            of the photoreceptor
  JOURNAL   Cell 91 (4), 543-553 (1997)
   PUBMED   9390563
REFERENCE   7  (bases 1 to 4366)
  AUTHORS   Evans K, Fryer A, Inglehearn C, Duvall-Young J, Whittaker JL,
            Gregory CY, Butler R, Ebenezer N, Hunt DM and Bhattacharya S.
  TITLE     Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and
            evidence for segregation distortion
  JOURNAL   Nat Genet 6 (2), 210-213 (1994)
   PUBMED   8162077
REFERENCE   8  (bases 1 to 4366)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   30285347
REFERENCE   9  (bases 1 to 4366)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
REFERENCE   10  (bases 1 to 4366)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301475
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BQ423938.1, BU187765.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000221996.12/ ENSP00000221996.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG396702.1, BQ423938.1,
            AC008745.7, BE782215.1 and BU736672.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000554.5.
            Summary: The protein encoded by this gene is a
            photoreceptor-specific transcription factor which plays a role in
            the differentiation of photoreceptor cells. This homeodomain
            protein is necessary for the maintenance of normal cone and rod
            function. Mutations in this gene are associated with photoreceptor
            degeneration, Leber congenital amaurosis type III and the autosomal
            dominant cone-rod dystrophy 2. Several alternatively spliced
            transcript variants of this gene have been described, but the
            full-length nature of some variants has not been determined.
            [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4366
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..4366
                     /gene="CRX"
                     /gene_synonym="CORD2; CRD; LCA7; OTX3"
                     /note="cone-rod homeobox"
                     /db_xref="GeneID:1406"
                     /db_xref="HGNC:HGNC:2383"
                     /db_xref="MIM:602225"
     misc_feature    32..34
                     /gene="CRX"
                     /gene_synonym="CORD2; CRD; LCA7; OTX3"
                     /note="upstream in-frame stop codon"
     CDS             110..1009
                     /gene="CRX"
                     /gene_synonym="CORD2; CRD; LCA7; OTX3"
                     /note="orthodenticle homeobox 3"
                     /codon_start=1
                     /product="cone-rod homeobox protein"
                     /protein_id="NP_000545.1"
                     /db_xref="CCDS:CCDS12706.1"
                     /db_xref="GeneID:1406"
                     /db_xref="HGNC:HGNC:2383"
                     /db_xref="MIM:602225"
                     /translation="MMAYMNPGPHYSVNALALSGPSVDLMHQAVPYPSAPRKQRRERTT
                     FTRSQLEELEALFAKTQYPDVYAREEVALKINLPESRVQVWFKNRRAKCRQQRQQQKQQ
                     QQPPGGQAKARPAKRKAGTSPRPSTDVCPDPLGISDSYSPPLPGPSGSPTTAVATVSIW
                     SPASESPLPEAQRAGLVASGPSLTSAPYAMTYAPASAFCSSPSAYGSPSSYFSGLDPYL
                     SPMVPQLGGPALSPLSGPSVGPSLAQSPTSLSGQSYGAYSPVDSLEFKDPTGTWKFTYN
                     PMDPLDYKDQSAWKFQIL"
     misc_feature    386..574
                     /gene="CRX"
                     /gene_synonym="CORD2; CRD; LCA7; OTX3"
                     /note="propagated from UniProtKB/Swiss-Prot (O43186.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2169..2174
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRX"
                     /gene_synonym="CORD2; CRD; LCA7; OTX3"
                     /note="hexamer: AATAAA"
     polyA_site      2199
                     /gene="CRX"
                     /gene_synonym="CORD2; CRD; LCA7; OTX3"
     regulatory      4348..4353
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRX"
                     /gene_synonym="CORD2; CRD; LCA7; OTX3"
                     /note="hexamer: ATTAAA"
     polyA_site      4366
                     /gene="CRX"
                     /gene_synonym="CORD2; CRD; LCA7; OTX3"
                     /note="major polyA site"
ORIGIN
        1 ccttcagcct ctgctgtctg gccgctctgt ctaggtcctg ggccacggga gagccccgtc
       61 cctcctttct gaaggccccc tgacttgggc ctcagtgtcc ccgaagatca tgatggcgta
      121 tatgaacccg gggccccact attctgtcaa cgccttggcc ctaagtggcc ccagtgtgga
      181 tctgatgcac caggctgtgc cctacccaag cgcccccagg aagcagcggc gggagcgcac
      241 caccttcacc cggagccaac tggaggagct ggaggcactg tttgccaaga cccagtaccc
      301 agacgtctat gcccgtgagg aggtggctct gaagatcaat ctgcctgagt ccagggttca
      361 ggtttggttc aagaaccgga gggctaaatg caggcagcag cgacagcagc agaaacagca
      421 gcagcagccc ccagggggcc aggccaaggc ccggcctgcc aagaggaagg cgggcacgtc
      481 cccaagaccc tccacagatg tgtgtccaga ccctctgggc atctcagatt cctacagtcc
      541 ccctctgccc ggcccctcag gctccccaac cacggcagtg gccactgtgt ccatctggag
      601 cccagcctca gagtcccctt tgcctgaggc gcagcgggct gggctggtgg cctcagggcc
      661 gtctctgacc tccgccccct atgccatgac ctacgccccg gcctccgctt tctgctcttc
      721 cccctccgcc tatgggtctc cgagctccta tttcagcggc ctagacccct acctttctcc
      781 catggtgccc cagctagggg gcccggctct tagccccctc tctggcccct ccgtgggacc
      841 ttccctggcc cagtccccca cctccctatc aggccagagc tatggcgcct acagccccgt
      901 ggatagcttg gaattcaagg accccacggg cacctggaaa ttcacctaca atcccatgga
      961 ccctctggac tacaaggatc agagtgcctg gaagtttcag atcttgtaga ggacgcagtc
     1021 tccatctctc tccatcgggc ctcgggaccc tttctcttct gaatctgctt ccctgcagtt
     1081 tagatcccgg gatggcattc ctgagaaagc aacccgaacc agctgtcctt ctgacagctc
     1141 ggtgttcagc ttacagagac cacccctttc ctccacaggg agaggctcct ccctctcctg
     1201 ggacagctca caggtcctag tgattctctc aaccctaaca ccgtctggca cgattgtgac
     1261 cgctgaagta caccacgagc tccaggcttc agaaagtggt gctgagaact tgctccaaga
     1321 agaagtcaaa ccaaacttgc agttgatttg gggtcatgtt taggtcagaa tcaccgtgcc
     1381 cttgaacaag caggtagggg ggcttgataa cttaactttc cacgtggaca gaattttttt
     1441 ttttgttttg tttttgtttt gcagacacag tctagctctg tcgcccaggc tggagtgcag
     1501 tggcacgatc tcagctcact gcaagctcta cctcccgggt tcacgccatt ctcctgcctc
     1561 agcctcccga gtagctggga ctacagatgc ccaccaccag gcccggctaa ttttttttgt
     1621 atttttagta gagacggggt ttcaccgtgt tagccaggat ggtctcgatc tcctgacctc
     1681 gtgatccgcc cgcctcggcc tcccaaagtg ctaggattac aggcgtgagc caccgcgccc
     1741 ggcccttttt tttttttttt tttttaattg agacggagtc tcactctttt gcttaggctg
     1801 gagtgcagtg gtgtgatctc agctcactga ctgcaacctc cacctcccgg gttgaagcgt
     1861 tgctcctgcc tcaatctccc aattagctgg gattacaggt gtgctccatc atgcccggct
     1921 aatttttcta ttattagtag agacagggtt ttaccatgtt ggccaggctg gtctggaacc
     1981 cctgacctca agtgatccgc ctgcctcggc ctcccaaagt gctgggatta caggcatgag
     2041 ccattgtgcc tggccctaca cgtggacact tctttagcat atggttaggg acctttctag
     2101 aaattccaaa gacagacttt aagaagcccc gtcgggaaac cttaggccaa tgatgtggtt
     2161 acattaaaaa taaattatct gggaatttca cagacttcac aaatgtcagg cttacatggt
     2221 aggtttaggg gaccgtttga gagacaaaga tctacattca tatatgtagc tatacatata
     2281 tgtacttttt cttcttagtt tctttttaaa gacattttat cactcattcg ctcattagca
     2341 cattgggaat gtgtgtattt ggtagggaaa tgaaaggcac cttgcctgtt ccatctctac
     2401 tccttttttc ttttgtttta ggattttcta aaggtgagac actggtggaa ctggggtagc
     2461 tgcttgggac gtaccaccta tagttgtggc tatttcacag agaagcagca gctagacaga
     2521 ctcccatctg taaataaaca agagatagga agagggggaa atagatttgg aggaggcagc
     2581 cctacatttc aaacatacat tccctttttt agattttttt tttttttttt ttggttttca
     2641 gttttgatgg tgggattgga aaatagagct tggcttgagg acattttcct ggggtggcac
     2701 cattatttct tgaaatagaa tcttacttat ggtgacactg gcaagcactt gtgagaacct
     2761 gaagacggat tgaggtcatt tgatgctcag aagttgggtg ctgggtccct gccttctcag
     2821 tccgagttct cctttcattt ttgggtgggg aggcgggttc caagagccct tcattggtgg
     2881 agttcacaag gcaaggtgta aaaaaaaaag tagggcagga agacagtggt gtgctggcag
     2941 aggtctaaca atgggctctc caaggaagag gaaaaggttg gttgtggagt gtttgtcagt
     3001 ttccgtggtg taaatactcc caccacggct gacttcaagc tagcaaccgg aggtcactga
     3061 actaagagtt gggaagagat agggcacaat atatgcttac gagttggtac acaccgtcag
     3121 cagcagccag ggtcaggaga aaggcgagat gtgaagagag gccgggaggt atcagatgac
     3181 gtttccagca ctagaccaga agaggtgcac acagcctaga ccccctgagg ggtacaccct
     3241 gatctctaga gcccacaaag aggtttttat tcaacataaa acgtgttcat ctctcatagg
     3301 cctgagtcat gctgggttct gggacattaa gcccaggagt gggccgggtg cggtggctca
     3361 cgcctgtaat cccagcactt tgggaggccg aggcgggtgg atcacctgag gtcaggagtt
     3421 cgagaccagc ctggccaaca tggtgaaacc ctgtctctac taataataca aaaattagcc
     3481 gggcatggtg gcacgcgcct gtaatcccag ctactcggga ggctgaggca ggagaattgc
     3541 tggaacccgg gaggcggagg ttgaagagag cagagattgt gccactgtgc tctagcctgg
     3601 gtcacaagag cgaaactccg tctcaataat aacaacaaca aaaataaccc aggagtggct
     3661 caagagtcca gtgtgggatg aaaatataaa cagaggaaga caacatatgt cactggggag
     3721 gctgggggag ctagacaaaa ttcacacggg aggggcaggg atgagacaat attgtgccct
     3781 gggtctgtgc aaacgttggg accagaatcc actataagtt tcattcttcg gagacacgga
     3841 agctctgcac tggaggccgg gactcaggcg tggaagagaa tcttctcctt attcaccggg
     3901 gaggctgtgt cttgtgcaaa caagtcatag aaacttgatg ggagttgggg agggactgaa
     3961 ggatgcatgc aaggttctgg gaaggagtga gaagtagtga aggccaaggg gcccccatca
     4021 caggccgatg gggtaagact tcgagagagc ctgatcctgg ggtcttctga gactccacca
     4081 ggagccggag agggcaggga gccaaatcca gctaggaggt tacagattgc ttttcctggg
     4141 ctgggctcct gagtgttggt tcttccagct gtgcacaggg gatttcaaac gttctacgtc
     4201 ctaaagccag gaagagtgac aaggcaggtg gggacagaag gaagaagcca ggagcctccc
     4261 tgagaaggtg tcaccttatc tgtcctcctc ttccccacac actggcctct gggtccccct
     4321 tctctgtcca cccacagagt gaaaccaatt aaaatgttgg atctca
//
LOCUS       NM_000557               2368 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens growth differentiation factor 5 (GDF5), transcript
            variant 2, mRNA.
ACCESSION   NM_000557
VERSION     NM_000557.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2368)
  AUTHORS   He W and Lin X.
  TITLE     LINC00313 promotes the proliferation and inhibits the apoptosis of
            chondrocytes via regulating miR-525-5p/GDF5 axis
  JOURNAL   J Orthop Surg Res 18 (1), 137 (2023)
   PUBMED   36823651
  REMARK    GeneRIF: LINC00313 promotes the proliferation and inhibits the
            apoptosis of chondrocytes via regulating miR-525-5p/GDF5 axis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2368)
  AUTHORS   Takahata Y, Hagino H, Kimura A, Urushizaki M, Yamamoto S, Wakamori
            K, Murakami T, Hata K and Nishimura R.
  TITLE     Regulatory Mechanisms of Prg4 and Gdf5 Expression in Articular
            Cartilage and Functions in Osteoarthritis
  JOURNAL   Int J Mol Sci 23 (9), 4672 (2022)
   PUBMED   35563063
  REMARK    GeneRIF: Regulatory Mechanisms of Prg4 and Gdf5 Expression in
            Articular Cartilage and Functions in Osteoarthritis. Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2368)
  AUTHORS   Han Y, Yang Q, Huang Y, Jia L, Zheng Y and Li W.
  TITLE     Long non-coding RNA SNHG5 promotes the osteogenic differentiation of
            bone marrow mesenchymal stem cells via the miR-212-3p/GDF5/SMAD
            pathway
  JOURNAL   Stem Cell Res Ther 13 (1), 130 (2022)
   PUBMED   35346361
  REMARK    GeneRIF: Long non-coding RNA SNHG5 promotes the osteogenic
            differentiation of bone marrow mesenchymal stem cells via the
            miR-212-3p/GDF5/SMAD pathway. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2368)
  AUTHORS   Zhu K, Zhao R, Ye Y, Xu G and Zhang C.
  TITLE     Effect of lentivirus-mediated growth and differentiation factor-5
            transfection on differentiation of rabbit nucleus pulposus
            mesenchymal stem cells
  JOURNAL   Eur J Med Res 27 (1), 5 (2022)
   PUBMED   35022077
  REMARK    GeneRIF: Effect of lentivirus-mediated growth and differentiation
            factor-5 transfection on differentiation of rabbit nucleus pulposus
            mesenchymal stem cells. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2368)
  AUTHORS   Jin L and Li X.
  TITLE     Growth differentiation factor 5 regulation in bone regeneration
  JOURNAL   Curr Pharm Des 19 (19), 3364-3373 (2013)
   PUBMED   23432680
  REMARK    Review article
REFERENCE   6  (bases 1 to 2368)
  AUTHORS   Nishitoh H, Ichijo H, Kimura M, Matsumoto T, Makishima F, Yamaguchi
            A, Yamashita H, Enomoto S and Miyazono K.
  TITLE     Identification of type I and type II serine/threonine kinase
            receptors for growth/differentiation factor-5
  JOURNAL   J Biol Chem 271 (35), 21345-21352 (1996)
   PUBMED   8702914
REFERENCE   7  (bases 1 to 2368)
  AUTHORS   Lin K, Thomas JT, McBride OW and Luyten FP.
  TITLE     Assignment of a new TGF-beta superfamily member, human
            cartilage-derived morphogenetic protein-1, to chromosome 20q11.2
  JOURNAL   Genomics 34 (1), 150-151 (1996)
   PUBMED   8661040
REFERENCE   8  (bases 1 to 2368)
  AUTHORS   Thomas JT, Lin K, Nandedkar M, Camargo M, Cervenka J and Luyten FP.
  TITLE     A human chondrodysplasia due to a mutation in a TGF-beta superfamily
            member
  JOURNAL   Nat Genet 12 (3), 315-317 (1996)
   PUBMED   8589725
REFERENCE   9  (bases 1 to 2368)
  AUTHORS   Chang SC, Hoang B, Thomas JT, Vukicevic S, Luyten FP, Ryba NJ, Kozak
            CA, Reddi AH and Moos M Jr.
  TITLE     Cartilage-derived morphogenetic proteins. New members of the
            transforming growth factor-beta superfamily predominantly expressed
            in long bones during human embryonic development
  JOURNAL   J Biol Chem 269 (45), 28227-28234 (1994)
   PUBMED   7961761
REFERENCE   10  (bases 1 to 2368)
  AUTHORS   Hotten G, Neidhardt H, Jacobowsky B and Pohl J.
  TITLE     Cloning and expression of recombinant human growth/differentiation
            factor 5
  JOURNAL   Biochem Biophys Res Commun 204 (2), 646-652 (1994)
   PUBMED   7980526
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U13660.1, AB593125.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374369.8/ ENSP00000363489.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from FO393401.1, U13660.1,
            AB593125.1 and BU625224.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000557.4.
            Summary: This gene encodes a secreted ligand of the TGF-beta
            (transforming growth factor-beta) superfamily of proteins. Ligands
            of this family bind various TGF-beta receptors leading to
            recruitment and activation of SMAD family transcription factors
            that regulate gene expression. The encoded preproprotein is
            proteolytically processed to generate each subunit of the
            disulfide-linked homodimer. This protein regulates the development
            of numerous tissue and cell types, including cartilage, joints,
            brown fat, teeth, and the growth of neuronal axons and dendrites.
            Mutations in this gene are associated with acromesomelic dysplasia,
            brachydactyly, chondrodysplasia, multiple synostoses syndrome,
            proximal symphalangism, and susceptibility to osteoarthritis.
            [provided by RefSeq, Aug 2016].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2368
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.22"
     gene            1..2368
                     /gene="GDF5"
                     /gene_synonym="BDA1C; BMP-14; BMP14; CDMP1; DUPANS; LAP-4;
                     LAP4; OS5; SYM1B; SYNS2"
                     /note="growth differentiation factor 5"
                     /db_xref="GeneID:8200"
                     /db_xref="HGNC:HGNC:4220"
                     /db_xref="MIM:601146"
     misc_feature    64..66
                     /gene="GDF5"
                     /gene_synonym="BDA1C; BMP-14; BMP14; CDMP1; DUPANS; LAP-4;
                     LAP4; OS5; SYM1B; SYNS2"
                     /note="upstream in-frame stop codon"
     CDS             301..1806
                     /gene="GDF5"
                     /gene_synonym="BDA1C; BMP-14; BMP14; CDMP1; DUPANS; LAP-4;
                     LAP4; OS5; SYM1B; SYNS2"
                     /note="cartilage-derived morphogenetic protein-1;
                     radotermin; LPS-associated protein 4; bone morphogenetic
                     protein 14; lipopolysaccharide-associated protein 4"
                     /codon_start=1
                     /product="growth/differentiation factor 5 preproprotein"
                     /protein_id="NP_000548.2"
                     /db_xref="CCDS:CCDS13254.1"
                     /db_xref="GeneID:8200"
                     /db_xref="HGNC:HGNC:4220"
                     /db_xref="MIM:601146"
                     /translation="MRLPKLLTFLLWYLAWLDLEFICTVLGAPDLGQRPQGTRPGLAKA
                     EAKERPPLARNVFRPGGHSYGGGATNANARAKGGTGQTGGLTQPKKDEPKKLPPRPGGP
                     EPKPGHPPQTRQATARTVTPKGQLPGGKAPPKAGSVPSSFLLKKAREPGPPREPKEPFR
                     PPPITPHEYMLSLYRTLSDADRKGGNSSVKLEAGLANTITSFIDKGQDDRGPVVRKQRY
                     VFDISALEKDGLLGAELRILRKKPSDTAKPAAPGGGRAAQLKLSSCPSGRQPAALLDVR
                     SVPGLDGSGWEVFDIWKLFRNFKNSAQLCLELEAWERGRAVDLRGLGFDRAARQVHEKA
                     LFLVFGRTKKRDLFFNEIKARSGQDDKTVYEYLFSQRRKRRAPLATRQGKRPSKNLKAR
                     CSRKALHVNFKDMGWDDWIIAPLEYEAFHCEGLCEFPLRSHLEPTNHAVIQTLMNSMDP
                     ESTPPTCCVPTRLSPISILFIDSANNVVYKQYEDMVVESCGCR"
     sig_peptide     301..381
                     /gene="GDF5"
                     /gene_synonym="BDA1C; BMP-14; BMP14; CDMP1; DUPANS; LAP-4;
                     LAP4; OS5; SYM1B; SYNS2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    385..807
                     /gene="GDF5"
                     /gene_synonym="BDA1C; BMP-14; BMP14; CDMP1; DUPANS; LAP-4;
                     LAP4; OS5; SYM1B; SYNS2"
                     /note="propagated from UniProtKB/Swiss-Prot (P43026.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    865..867
                     /gene="GDF5"
                     /gene_synonym="BDA1C; BMP-14; BMP14; CDMP1; DUPANS; LAP-4;
                     LAP4; OS5; SYM1B; SYNS2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P43026.4); glycosylation site"
     misc_feature    1036..1095
                     /gene="GDF5"
                     /gene_synonym="BDA1C; BMP-14; BMP14; CDMP1; DUPANS; LAP-4;
                     LAP4; OS5; SYM1B; SYNS2"
                     /note="propagated from UniProtKB/Swiss-Prot (P43026.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     1444..1803
                     /gene="GDF5"
                     /gene_synonym="BDA1C; BMP-14; BMP14; CDMP1; DUPANS; LAP-4;
                     LAP4; OS5; SYM1B; SYNS2"
                     /product="Growth/differentiation factor 5.
                     /id=PRO_0000033913"
                     /note="propagated from UniProtKB/Swiss-Prot (P43026.4)"
     regulatory      2343..2348
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDF5"
                     /gene_synonym="BDA1C; BMP-14; BMP14; CDMP1; DUPANS; LAP-4;
                     LAP4; OS5; SYM1B; SYNS2"
                     /note="hexamer: GATAAA"
     polyA_site      2368
                     /gene="GDF5"
                     /gene_synonym="BDA1C; BMP-14; BMP14; CDMP1; DUPANS; LAP-4;
                     LAP4; OS5; SYM1B; SYNS2"
                     /note="major polyA site"
ORIGIN
        1 agttgtgcag gagaaagggg gcggtcggct ttctcctttc aagaacgagt tattttcagc
       61 tgctgactgg agacggtgca cgtctggata cgagagcatt tccactatgg gactggatac
      121 aaacacacac ccggcagact tcaagagtct cagactgagg agaaagcctt tccttctgct
      181 gctactgctg ctgccgctgc ttttgaaagt ccactccttt catggttttt cctgccaaac
      241 cagaggcacc ttcgctgctg ccgctgttct ctttggtgtc attcagcggc tggccagagg
      301 atgagactcc ccaaactcct cactttcttg ctttggtacc tggcttggct ggacctggaa
      361 ttcatctgca ctgtgttggg tgcccctgac ttgggccaga gaccccaggg gaccaggcca
      421 ggattggcca aagcagaggc caaggagagg ccccccctgg cccggaacgt cttcaggcca
      481 gggggtcaca gctatggtgg gggggccacc aatgccaatg ccagggcaaa gggaggcacc
      541 gggcagacag gaggcctgac acagcccaag aaggatgaac ccaaaaagct gccccccaga
      601 ccgggcggcc ctgaacccaa gccaggacac cctccccaaa caaggcaggc tacagcccgg
      661 actgtgaccc caaaaggaca gcttcccgga ggcaaggcac ccccaaaagc aggatctgtc
      721 cccagctcct tcctgctgaa gaaggccagg gagcccgggc ccccacgaga gcccaaggag
      781 ccgtttcgcc caccccccat cacaccccac gagtacatgc tctcgctgta caggacgctg
      841 tccgatgctg acagaaaggg aggcaacagc agcgtgaagt tggaggctgg cctggccaac
      901 accatcacca gctttattga caaagggcaa gatgaccgag gtcccgtggt caggaagcag
      961 aggtacgtgt ttgacattag tgccctggag aaggatgggc tgctgggggc cgagctgcgg
     1021 atcttgcgga agaagccctc ggacacggcc aagccagcgg cccccggagg cgggcgggct
     1081 gcccagctga agctgtccag ctgccccagc ggccggcagc cggccgcctt gctggatgtg
     1141 cgctccgtgc caggcctgga cggatctggc tgggaggtgt tcgacatctg gaagctcttc
     1201 cgaaacttta agaactcggc ccagctgtgc ctggagctgg aggcctggga acggggcagg
     1261 gccgtggacc tccgtggcct gggcttcgac cgcgccgccc ggcaggtcca cgagaaagcc
     1321 ctgttcctgg tgtttggccg caccaagaaa cgggacctgt tctttaatga gattaaggcc
     1381 cgctctggcc aggacgataa gaccgtgtat gagtacctgt tcagccagcg gcgaaaacgg
     1441 cgggccccac tggccactcg ccagggcaag cgacccagca agaaccttaa ggctcgctgc
     1501 agtcggaagg cactgcatgt caacttcaag gacatgggct gggacgactg gatcatcgca
     1561 ccccttgagt acgaggcttt ccactgcgag gggctgtgcg agttcccatt gcgctcccac
     1621 ctggagccca cgaatcatgc agtcatccag accctgatga actccatgga ccccgagtcc
     1681 acaccaccca cctgctgtgt gcccacgcgg ctgagtccca tcagcatcct cttcattgac
     1741 tctgccaaca acgtggtgta taagcagtat gaggacatgg tcgtggagtc gtgtggctgc
     1801 aggtagcagc actggccctc tgtcttcctg ggtggcacat cccaagagcc ccttcctgca
     1861 ctcctggaat cacagagggg tcaggaagct gtggcaggag catctacaca gcttgggtga
     1921 aaggggattc caataagctt gctcgctctc tgagtgtgac ttgggctaaa ggcccccttt
     1981 tatccacaag ttcccctggc tgaggattgc tgcccgtctg ctgatgtgac cagtggcagg
     2041 cacaggtcca gggagacaga ctctgaatgg gactgagtcc caggaaacag tgctttccga
     2101 tgagactcag cccaccattt ctcctcacct gggccttctc agcctctgga ctctcctaag
     2161 cacctctcag gagagccaca ggtgccactg cctcctcaaa tcacatttgt gcctggtgac
     2221 ttcctgtccc tgggacagtt gagaagctga ctgggcaaga gtgggagaga agaggagagg
     2281 gcttggatag agttgaggag tgtgaggctg ttagactgtt agatttaaat gtatattgat
     2341 gagataaaaa gcaaaactgt gcctaaaa
//
LOCUS       NM_000558                577 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens hemoglobin subunit alpha 1 (HBA1), mRNA.
ACCESSION   NM_000558
VERSION     NM_000558.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 577)
  AUTHORS   Wang YJ, Mu HN, Yang RY, Zhang WD, Wang XY, Wang SM, Ji FS, Dong J
            and Yu X.
  TITLE     [Value of glycosylated hemoglobin A1c and apolipoprotein A-1 ratio
            on predicting outcome of patients with acute coronary syndrome]
  JOURNAL   Zhonghua Xin Xue Guan Bing Za Zhi 51 (1), 38-44 (2023)
   PUBMED   36655240
  REMARK    GeneRIF: [Value of glycosylated hemoglobin A1c and apolipoprotein
            A-1 ratio on predicting outcome of patients with acute coronary
            syndrome].
REFERENCE   2  (bases 1 to 577)
  AUTHORS   Orlewska K, Klusek J, Gluszek S, Klusek J, Witczak B, Wawszczak M,
            Madej L, Marzec MT and Orlewska E.
  TITLE     Glutathione S-Transferase P1 Genetic Variant's Influence on the
            HbA1c Level in Type Two Diabetic Patients
  JOURNAL   Int J Environ Res Public Health 20 (2), 1520 (2023)
   PUBMED   36674274
  REMARK    GeneRIF: Glutathione S-Transferase P1 Genetic Variant's Influence on
            the HbA1c Level in Type Two Diabetic Patients. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 577)
  AUTHORS   Luo P, Liu X, Tang Z and Xiong B.
  TITLE     Decreased expression of HBA1 and HBB genes in acute myeloid leukemia
            patients and their inhibitory effects on growth of K562 cells
  JOURNAL   Hematology 27 (1), 1003-1009 (2022)
   PUBMED   36117408
  REMARK    GeneRIF: Decreased expression of HBA1 and HBB genes in acute myeloid
            leukemia patients and their inhibitory effects on growth of K562
            cells.
REFERENCE   4  (bases 1 to 577)
  AUTHORS   Enato IG, Sadoh AE, Ibadin OM, Odunvbun ME and Osaigbovo II.
  TITLE     Distinct pattern and prevalence of Plasmodium falciparum
            dihydropteroate synthase gene mutations in children with sickle cell
            anaemia and haemoglobin AA in Benin City, Nigeria: the impact of
            HbAA
  JOURNAL   Pan Afr Med J 43, 80 (2022)
   PUBMED   36590995
  REMARK    GeneRIF: Distinct pattern and prevalence of Plasmodium falciparum
            dihydropteroate synthase gene mutations in children with sickle cell
            anaemia and haemoglobin AA in Benin City, Nigeria: the impact of
            HbAA. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 577)
  AUTHORS   Ghassemifar R, Forster L, Qadah T and Finlayson J.
  TITLE     Identification and characterization of two novel and differentially
            expressed isoforms of human alpha2- and alpha1-globin genes
  JOURNAL   Hemoglobin 36 (5), 421-432 (2012)
   PUBMED   22738435
  REMARK    GeneRIF: This study, for the first time, confirms the presence of
            two isoforms for both the alpha2- and alpha1-globin genes with
            varying transcription levels in healthy individuals.
REFERENCE   6  (bases 1 to 577)
  AUTHORS   Tamary,H. and Dgany,O.
  TITLE     Alpha-Thalassemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301608
REFERENCE   7  (bases 1 to 577)
  AUTHORS   Knuth,A., Pribilla,W., Marti,H.R. and Winterhalter,K.H.
  TITLE     Hemoglobin Moabit: alpha 86 (F7) Leu leads to Arg: a new unstable
            abnormal hemoglobin
  JOURNAL   Acta Haematol 61 (3), 121-124 (1979)
   PUBMED   108887
REFERENCE   8  (bases 1 to 577)
  AUTHORS   Moo-Penn,W.F., Jue,D.L. and Baine,R.M.
  TITLE     Hemoglobin J Rovigo (alpha53 Ala replaced by Asp) in association
            with beta-thalassemia
  JOURNAL   Hemoglobin 2 (5), 443-445 (1978)
   PUBMED   31339
REFERENCE   9  (bases 1 to 577)
  AUTHORS   Chang,J.C., Temple,G.F., Poon,R., Neumann,K.H. and Kan,Y.W.
  TITLE     The nucleotide sequences of the untranslated 5' regions of human
            alpha- and beta-globin mRNAs
  JOURNAL   Proc Natl Acad Sci U S A 74 (11), 5145-5149 (1977)
   PUBMED   270752
REFERENCE   10  (bases 1 to 577)
  AUTHORS   Cohen-Solal,M., Manesse,B., Thillet,J. and Rosa,J.
  TITLE     Haemoglobin G Norfolk alpha 85 (F6) Asp leads to Asn. Structural
            characterization by sequenator analysis and functional properties of
            a new variant with high oxygen affinity
  JOURNAL   FEBS Lett 50 (2), 163-167 (1975)
   PUBMED   234399
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC005931.1, AK223392.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000320868.9/ ENSP00000322421.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC005931.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 3, 2018 this sequence version replaced NM_000558.4.
            Summary: The human alpha globin gene cluster located on chromosome
            16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta
            - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2
            (HBA2) and alpha-1 (HBA1) coding sequences are identical. These
            genes differ slightly over the 5' untranslated regions and the
            introns, but they differ significantly over the 3' untranslated
            regions. Two alpha chains plus two beta chains constitute HbA,
            which in normal adult life comprises about 97% of the total
            hemoglobin; alpha chains combine with delta chains to constitute
            HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3%
            of adult hemoglobin. Alpha thalassemias result from deletions of
            each of the alpha genes as well as deletions of both HBA2 and HBA1;
            some nondeletion alpha thalassemias have also been reported.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..577
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..577
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="hemoglobin subunit alpha 1"
                     /db_xref="GeneID:3039"
                     /db_xref="HGNC:HGNC:4823"
                     /db_xref="MIM:141800"
     CDS             38..466
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="alpha one globin; hemoglobin alpha 1 globin chain;
                     delta globin; alpha-2 globin chain; hemoglobin, alpha 1;
                     alpha globin chain"
                     /codon_start=1
                     /product="hemoglobin subunit alpha"
                     /protein_id="NP_000549.1"
                     /db_xref="CCDS:CCDS10399.1"
                     /db_xref="GeneID:3039"
                     /db_xref="HGNC:HGNC:4823"
                     /db_xref="MIM:141800"
                     /translation="MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFP
                     HFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSH
                     CLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR"
     misc_feature    47..49
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    59..61
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="N-linked (Glc) (glycation) lysine, alternate.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); glycosylation site"
     misc_feature    62..67
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    62..64
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    71..73
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P69905.2); other
                     site"
     misc_feature    77..82
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    86..88
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="N-linked (Glc) (glycation) lysine, alternate.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); glycosylation site"
     misc_feature    86..88
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); acetylation site"
     misc_feature    110..115
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    110..112
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    125..130
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    143..145
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    158..160
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="N-linked (Glc) (glycation) lysine, alternate.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); glycosylation site"
     misc_feature    173..178
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    179..184
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    185..187
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    194..199
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    203..208
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    206..208
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P69905.2); other
                     site"
     misc_feature    215..220
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    218..220
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P69905.2); other
                     site"
     misc_feature    221..223
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:7358733; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); glycosylation site"
     misc_feature    308..310
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P69905.2); other
                     site"
     misc_feature    311..316
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     mat_peptide     323..349
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /product="Hemopressin.
                     /evidence=ECO:0000305|PubMed:18077343. /id=PRO_0000455882"
                     /note="propagated from UniProtKB/Swiss-Prot (P69905.2)"
     misc_feature    335..337
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Not glycated. /evidence=ECO:0000269|PubMed:7358733;
                     propagated from UniProtKB/Swiss-Prot (P69905.2); other
                     site"
     misc_feature    344..346
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    356..361
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    362..367
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    362..364
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    401..406
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    410..412
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    431..433
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    437..442
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="(Microbial infection) Cleavage, by N.americanus
                     apr-2. /evidence=ECO:0000269|PubMed:12552433; propagated
                     from UniProtKB/Swiss-Prot (P69905.2); other site"
     misc_feature    440..442
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    449..451
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     misc_feature    452..454
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P01942; propagated from
                     UniProtKB/Swiss-Prot (P69905.2); phosphorylation site"
     regulatory      556..561
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="hexamer: AATAAA"
     polyA_site      577
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="major polyA site"
ORIGIN
        1 actcttctgg tccccacaga ctcagagaga acccaccatg gtgctgtctc ctgccgacaa
       61 gaccaacgtc aaggccgcct ggggtaaggt cggcgcgcac gctggcgagt atggtgcgga
      121 ggccctggag aggatgttcc tgtccttccc caccaccaag acctacttcc cgcacttcga
      181 cctgagccac ggctctgccc aggttaaggg ccacggcaag aaggtggccg acgcgctgac
      241 caacgccgtg gcgcacgtgg acgacatgcc caacgcgctg tccgccctga gcgacctgca
      301 cgcgcacaag cttcgggtgg acccggtcaa cttcaagctc ctaagccact gcctgctggt
      361 gaccctggcc gcccacctcc ccgccgagtt cacccctgcg gtgcacgcct ccctggacaa
      421 gttcctggct tctgtgagca ccgtgctgac ctccaaatac cgttaagctg gagcctcggt
      481 ggccatgctt cttgcccctt gggcctcccc ccagcccctc ctccccttcc tgcacccgta
      541 cccccgtggt ctttgaataa agtctgagtg ggcggca
//
LOCUS       NM_000559                587 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens hemoglobin subunit gamma 1 (HBG1), mRNA.
ACCESSION   NM_000559
VERSION     NM_000559.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 587)
  AUTHORS   Wang X, Meng X, Meng L, Guo Y, Li Y, Yang C, Pei Z, Li J and Wang F.
  TITLE     Joint efficacy of the three biomarkers SNCA, GYPB and HBG1 for
            atrial fibrillation and stroke: Analysis via the support vector
            machine neural network
  JOURNAL   J Cell Mol Med 26 (7), 2010-2022 (2022)
   PUBMED   35138035
  REMARK    GeneRIF: Joint efficacy of the three biomarkers SNCA, GYPB and HBG1
            for atrial fibrillation and stroke: Analysis via the support vector
            machine neural network.
REFERENCE   2  (bases 1 to 587)
  AUTHORS   Lin J, Ye Y, Shang X, Zhang Y, Wei X and Xu X.
  TITLE     TEA domain transcription factor 4 modulates repression of fetal
            haemoglobin by direct binding to the gamma-globin gene promoters
  JOURNAL   Br J Haematol 195 (5), 764-769 (2021)
   PUBMED   34569056
  REMARK    GeneRIF: TEA domain transcription factor 4 modulates repression of
            fetal haemoglobin by direct binding to the gamma-globin gene
            promoters.
REFERENCE   3  (bases 1 to 587)
  AUTHORS   Eernstman J, Veldhuisen B, Ligthart P, von Lindern M, van der Schoot
            CE and van den Akker E.
  TITLE     Novel variants in Krueppel like factor 1 that cause persistence of
            fetal hemoglobin in In(Lu) individuals
  JOURNAL   Sci Rep 11 (1), 18557 (2021)
   PUBMED   34535703
  REMARK    GeneRIF: Novel variants in Krueppel like factor 1 that cause
            persistence of fetal hemoglobin in In(Lu) individuals. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 587)
  AUTHORS   Ghosh D, Panja A, Saha D, Banerjee U, Datta AK and Basu A.
  TITLE     Drug Repurposing: Hydroxyurea Therapy Improves the Transfusion-Free
            Interval in HbE/Beta-Thalassemia-Major Patients with the XmnI
            Polymorphism
  JOURNAL   Genet Test Mol Biomarkers 25 (8), 563-570 (2021)
   PUBMED   34406845
  REMARK    GeneRIF: Drug Repurposing: Hydroxyurea Therapy Improves the
            Transfusion-Free Interval in HbE/Beta-Thalassemia-Major Patients
            with the XmnI Polymorphism.
REFERENCE   5  (bases 1 to 587)
  AUTHORS   Doerfler PA, Feng R, Li Y, Palmer LE, Porter SN, Bell HW, Crossley
            M, Pruett-Miller SM, Cheng Y and Weiss MJ.
  TITLE     Activation of gamma-globin gene expression by GATA1 and NF-Y in
            hereditary persistence of fetal hemoglobin
  JOURNAL   Nat Genet 53 (8), 1177-1186 (2021)
   PUBMED   34341563
  REMARK    GeneRIF: Activation of gamma-globin gene expression by GATA1 and
            NF-Y in hereditary persistence of fetal hemoglobin.
REFERENCE   6  (bases 1 to 587)
  AUTHORS   Saglio,G., Ricco,G., Mazza,U., Camaschella,C., Pich,P.G.,
            Gianni,A.M., Gianazza,E., Righetti,P.G., Giglioni,B., Comi,P.,
            Gusmeroli,M. and Ottolenghi,S.
  TITLE     Human T gamma globin chain is a variant of A gamma chain (A gamma
            Sardinia)
  JOURNAL   Proc Natl Acad Sci U S A 76 (7), 3420-3424 (1979)
   PUBMED   291015
REFERENCE   7  (bases 1 to 587)
  AUTHORS   Poon,R., Kan,Y.W. and Boyer,H.W.
  TITLE     Sequence of the 3'-noncoding and adjacent coding regions of human
            gamma-globin mRNA
  JOURNAL   Nucleic Acids Res 5 (12), 4625-4630 (1978)
   PUBMED   318163
REFERENCE   8  (bases 1 to 587)
  AUTHORS   Marotta,C.A., Forget,B.G., Cohne-Solal,M., Wilson,J.T. and
            Weissman,S.M.
  TITLE     Human beta-globin messenger RNA. I. Nucleotide sequences derived
            from complementary RNA
  JOURNAL   J Biol Chem 252 (14), 5019-5031 (1977)
   PUBMED   873928
REFERENCE   9  (bases 1 to 587)
  AUTHORS   Frier,J.A. and Perutz,M.F.
  TITLE     Structure of human foetal deoxyhaemoglobin
  JOURNAL   J Mol Biol 112 (1), 97-112 (1977)
   PUBMED   881729
REFERENCE   10  (bases 1 to 587)
  AUTHORS   Grifoni,V., Kamuzora,H., Lehmann,H. and Charlesworth,D.
  TITLE     A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to
            threonine found in a family with Hb G Philadelphia, beta-chain
            deficiency and a Lepore-like haemoglobin indistinguishable from Hb
            A2
  JOURNAL   Acta Haematol 53 (6), 347-355 (1975)
   PUBMED   808940
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC020719.1, CD238302.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142853,
            SAMEA2149398 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000330597.5/ ENSP00000327431.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104389.8.
            On Dec 4, 2019 this sequence version replaced NM_000559.2.
            Summary: The gamma globin genes (HBG1 and HBG2) are normally
            expressed in the fetal liver, spleen and bone marrow. Two gamma
            chains together with two alpha chains constitute fetal hemoglobin
            (HbF) which is normally replaced by adult hemoglobin (HbA) at
            birth. In some beta-thalassemias and related conditions, gamma
            chain production continues into adulthood. The two types of gamma
            chains differ at residue 136 where glycine is found in the G-gamma
            product (HBG2) and alanine is found in the A-gamma product (HBG1).
            The former is predominant at birth. The order of the genes in the
            beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta
            -- beta--3'. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..587
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..587
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="hemoglobin subunit gamma 1"
                     /db_xref="GeneID:3047"
                     /db_xref="HGNC:HGNC:4831"
                     /db_xref="MIM:142200"
     misc_feature    33..35
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="upstream in-frame stop codon"
     CDS             54..497
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="hemoglobin gamma-a chain; hemoglobin, gamma,
                     regulator of; gamma globin; gamma A hemoglobin; A-gamma
                     globin; hb F Agamma; gamma-1-globin; hemoglobin gamma-1
                     chain; hemoglobin, gamma A; fetal hemoglobin F subunit
                     gamma 1"
                     /codon_start=1
                     /product="hemoglobin subunit gamma-1"
                     /protein_id="NP_000550.2"
                     /db_xref="CCDS:CCDS7754.1"
                     /db_xref="GeneID:3047"
                     /db_xref="HGNC:HGNC:4831"
                     /db_xref="MIM:142200"
                     /translation="MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDS
                     FGNLSSASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENF
                     KLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH"
     misc_feature    57..59
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="N-acetylglycine, in form Hb F1.
                     /evidence=ECO:0000269|PubMed:5554303; propagated from
                     UniProtKB/Swiss-Prot (P69891.2); acetylation site"
     misc_feature    90..92
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P68871; propagated from
                     UniProtKB/Swiss-Prot (P69891.2); phosphorylation site"
     misc_feature    186..188
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P69891.2); phosphorylation site"
     misc_feature    204..206
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P69891.2); phosphorylation site"
     misc_feature    210..212
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P69891.2); phosphorylation site"
     misc_feature    231..233
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P68871; propagated from
                     UniProtKB/Swiss-Prot (P69891.2); acetylation site"
     misc_feature    300..302
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P68871; propagated from
                     UniProtKB/Swiss-Prot (P69891.2); acetylation site"
     misc_feature    471..473
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P69891.2); phosphorylation site"
     regulatory      558..563
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="hexamer: AATAAA"
     polyA_site      587
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="major polyA site"
ORIGIN
        1 acactcgctt ctggaacgtc tgaggttatc aataagctcc tagtccagac gccatgggtc
       61 atttcacaga ggaggacaag gctactatca caagcctgtg gggcaaggtg aatgtggaag
      121 atgctggagg agaaaccctg ggaaggctcc tggttgtcta cccatggacc cagaggttct
      181 ttgacagctt tggcaacctg tcctctgcct ctgccatcat gggcaacccc aaagtcaagg
      241 cacatggcaa gaaggtgctg acttccttgg gagatgccac aaagcacctg gatgatctca
      301 agggcacctt tgcccagctg agtgaactgc actgtgacaa gctgcatgtg gatcctgaga
      361 acttcaagct cctgggaaat gtgctggtga ccgttttggc aatccatttc ggcaaagaat
      421 tcacccctga ggtgcaggct tcctggcaga agatggtgac tgcagtggcc agtgccctgt
      481 cctccagata ccactgagct cactgcccat gattcagagc tttcaaggat aggctttatt
      541 ctgcaagcaa tacaaataat aaatctattc tgctgagaga tcacaca
//
LOCUS       NM_000560               1505 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens CD53 molecule (CD53), transcript variant 2, mRNA.
ACCESSION   NM_000560
VERSION     NM_000560.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1505)
  AUTHORS   Yang Y, Liu XR, Greenberg ZJ, Zhou F, He P, Fan L, Liu S, Shen G,
            Egawa T, Gross ML, Schuettpelz LG and Li W.
  TITLE     Open conformation of tetraspanins shapes interaction partner
            networks on cell membranes
  JOURNAL   EMBO J 39 (18), e105246 (2020)
   PUBMED   32974937
  REMARK    GeneRIF: Open conformation of tetraspanins shapes interaction
            partner networks on cell membranes.
REFERENCE   2  (bases 1 to 1505)
  AUTHORS   Dunlock VE.
  TITLE     Tetraspanin CD53: an overlooked regulator of immune cell function
  JOURNAL   Med Microbiol Immunol 209 (4), 545-552 (2020)
   PUBMED   32440787
  REMARK    GeneRIF: Tetraspanin CD53: an overlooked regulator of immune cell
            function. Review article
REFERENCE   3  (bases 1 to 1505)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1505)
  AUTHORS   Jin HS, Cho JE and Park S.
  TITLE     Association between CD53 genetic polymorphisms and tuberculosis
            cases
  JOURNAL   Genes Genomics 41 (4), 389-395 (2019)
   PUBMED   30506122
  REMARK    GeneRIF: Eight SNPs of CD53 were found to be associated with
            tuberculosis case.
REFERENCE   5  (bases 1 to 1505)
  AUTHORS   Omae Y, Toyo-Oka L, Yanai H, Nedsuwan S, Wattanapokayakit S,
            Satproedprai N, Smittipat N, Palittapongarnpim P, Sawanpanyalert P,
            Inunchot W, Pasomsub E, Wichukchinda N, Mushiroda T, Kubo M,
            Tokunaga K and Mahasirimongkol S.
  TITLE     Pathogen lineage-based genome-wide association study identified CD53
            as susceptible locus in tuberculosis
  JOURNAL   J Hum Genet 62 (12), 1015-1022 (2017)
   PUBMED   28878339
  REMARK    GeneRIF: In this study, significant and lineage-dependent
            association of CD53 locus with Tuberculosis (TB) onset was
            identified from the pathogen lineage-based genome-wide association
            study (GWAS).
REFERENCE   6  (bases 1 to 1505)
  AUTHORS   Dianzani U, Bragardo M, Buonfiglio D, Redoglia V, Funaro A, Portoles
            P, Rojo J, Malavasi F and Pileri A.
  TITLE     Modulation of CD4 lateral interaction with lymphocyte surface
            molecules induced by HIV-1 gp120
  JOURNAL   Eur J Immunol 25 (5), 1306-1311 (1995)
   PUBMED   7539755
REFERENCE   7  (bases 1 to 1505)
  AUTHORS   Bell GM, Seaman WE, Niemi EC and Imboden JB.
  TITLE     The OX-44 molecule couples to signaling pathways and is associated
            with CD2 on rat T lymphocytes and a natural killer cell line
  JOURNAL   J Exp Med 175 (2), 527-536 (1992)
   PUBMED   1346273
REFERENCE   8  (bases 1 to 1505)
  AUTHORS   Horejsi V and Vlcek C.
  TITLE     Novel structurally distinct family of leucocyte surface
            glycoproteins including CD9, CD37, CD53 and CD63
  JOURNAL   FEBS Lett 288 (1-2), 1-4 (1991)
   PUBMED   1879540
  REMARK    Review article
REFERENCE   9  (bases 1 to 1505)
  AUTHORS   Amiot M.
  TITLE     Identification and analysis of cDNA clones encoding CD53. A
            pan-leukocyte antigen related to membrane transport proteins
  JOURNAL   J Immunol 145 (12), 4322-4325 (1990)
   PUBMED   2258620
REFERENCE   10  (bases 1 to 1505)
  AUTHORS   Angelisova P, Vlcek C, Stefanova I, Lipoldova M and Horejsi V.
  TITLE     The human leucocyte surface antigen CD53 is a protein structurally
            similar to the CD37 and MRC OX-44 antigens
  JOURNAL   Immunogenetics 32 (4), 281-285 (1990)
   PUBMED   1700763
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.835658.1,
            SRR5189661.73979.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000271324.6/ ENSP00000271324.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG536920.1, BC040693.1 and
            AL391064.23.
            On Nov 23, 2018 this sequence version replaced NM_000560.3.
            Summary: The protein encoded by this gene is a member of the
            transmembrane 4 superfamily, also known as the tetraspanin family.
            Most of these members are cell-surface proteins that are
            characterized by the presence of four hydrophobic domains. The
            proteins mediate signal transduction events that play a role in the
            regulation of cell development, activation, growth and motility.
            This encoded protein is a cell surface glycoprotein that is known
            to complex with integrins. It contributes to the transduction of
            CD2-generated signals in T cells and natural killer cells and has
            been suggested to play a role in growth regulation. Familial
            deficiency of this gene has been linked to an immunodeficiency
            associated with recurrent infectious diseases caused by bacteria,
            fungi and viruses. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Mar 2016].
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1505
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..1505
                     /gene="CD53"
                     /gene_synonym="MOX44; TSPAN25"
                     /note="CD53 molecule"
                     /db_xref="GeneID:963"
                     /db_xref="HGNC:HGNC:1686"
                     /db_xref="MIM:151525"
     misc_feature    7
                     /gene="CD53"
                     /gene_synonym="MOX44; TSPAN25"
                     /note="alternative transcription initiation site"
     misc_feature    10
                     /gene="CD53"
                     /gene_synonym="MOX44; TSPAN25"
                     /note="alternative transcription initiation site"
     misc_feature    25
                     /gene="CD53"
                     /gene_synonym="MOX44; TSPAN25"
                     /note="alternative transcription initiation site"
     misc_feature    80..82
                     /gene="CD53"
                     /gene_synonym="MOX44; TSPAN25"
                     /note="upstream in-frame stop codon"
     CDS             119..778
                     /gene="CD53"
                     /gene_synonym="MOX44; TSPAN25"
                     /note="isoform 1 is encoded by transcript variant 2; CD53
                     antigen; leukocyte surface antigen CD53; antigen MOX44
                     identified by monoclonal antibody MRC-OX44; CD53
                     glycoprotein; cell surface antigen; transmembrane
                     glycoprotein; CD53 tetraspan antigen; tetraspanin-25;
                     tspan-25; cell surface glycoprotein CD53"
                     /codon_start=1
                     /product="leukocyte surface antigen CD53 isoform 1"
                     /protein_id="NP_000551.1"
                     /db_xref="CCDS:CCDS829.1"
                     /db_xref="GeneID:963"
                     /db_xref="HGNC:HGNC:1686"
                     /db_xref="MIM:151525"
                     /translation="MGMSSLKLLKYVLFFFNLLFWICGCCILGFGIYLLIHNNFGVLFH
                     NLPSLTLGNVFVIVGSIIMVVAFLGCMGSIKENKCLLMSFFILLLIILLAEVTLAILLF
                     VYEQKLNEYVAKGLTDSIHRYHSDNSTKAAWDSIQSFLQCCGINGTSDWTSGPPASCPS
                     DRKVEGCYAKARLWFHSNFLYIGIITICVCVIEVLGMSFALTLNCQIDKTSQTIGL"
     misc_feature    152..214
                     /gene="CD53"
                     /gene_synonym="MOX44; TSPAN25"
                     /note="propagated from UniProtKB/Swiss-Prot (P19397.1);
                     transmembrane region"
     misc_feature    281..325
                     /gene="CD53"
                     /gene_synonym="MOX44; TSPAN25"
                     /note="propagated from UniProtKB/Swiss-Prot (P19397.1);
                     transmembrane region"
     misc_feature    359..436
                     /gene="CD53"
                     /gene_synonym="MOX44; TSPAN25"
                     /note="propagated from UniProtKB/Swiss-Prot (P19397.1);
                     transmembrane region"
     misc_feature    503..505
                     /gene="CD53"
                     /gene_synonym="MOX44; TSPAN25"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P19397.1); glycosylation site"
     misc_feature    560..562
                     /gene="CD53"
                     /gene_synonym="MOX44; TSPAN25"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P19397.1); glycosylation site"
     misc_feature    662..736
                     /gene="CD53"
                     /gene_synonym="MOX44; TSPAN25"
                     /note="propagated from UniProtKB/Swiss-Prot (P19397.1);
                     transmembrane region"
     regulatory      1485..1490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD53"
                     /gene_synonym="MOX44; TSPAN25"
                     /note="hexamer: AATAAA"
     polyA_site      1505
                     /gene="CD53"
                     /gene_synonym="MOX44; TSPAN25"
                     /note="major polyA site"
ORIGIN
        1 acaaatagcc ccggatatct gtgttaccag ccttgtctcg gccacctcaa ggataatcac
       61 taaattctgc cgaaaggact gaggaacggt gcctggaaaa gggcaagaat atcacggcat
      121 gggcatgagt agcttgaaac tgctgaagta tgtcctgttt ttcttcaact tgctcttttg
      181 gatctgtggc tgctgcattt tgggctttgg gatctacctg ctgatccaca acaacttcgg
      241 agtgctcttc cataacctcc cctccctcac gctgggcaat gtgtttgtca tcgtgggctc
      301 tattatcatg gtagttgcct tcctgggctg catgggctct atcaaggaaa acaagtgtct
      361 gcttatgtcg ttcttcatcc tgctgctgat tatcctcctt gctgaggtga ccttggccat
      421 cctgctcttt gtatatgaac agaagctgaa tgagtatgtg gctaagggtc tgaccgacag
      481 catccaccgt taccactcag acaatagcac caaggcagcg tgggactcca tccagtcatt
      541 tctgcagtgt tgtggtataa atggcacgag tgattggacc agtggcccac cagcatcttg
      601 cccctcagat cgaaaagtgg agggttgcta tgcgaaagca agactgtggt ttcattccaa
      661 tttcctgtat atcggaatca tcaccatctg tgtatgtgtg attgaggtgt tggggatgtc
      721 ctttgcactg accctgaact gccagattga caaaaccagc cagaccatag ggctatgatc
      781 tgcagtagtc ctgtggtgaa gagacttgtt tcatctccgg aaatgcaaaa ccatttatag
      841 catgaagccc tacatgatca ctgcaggatg atcctcctcc catcctttcc ctttttaggt
      901 ccctgtctta tacaaccaga gaagtgggtg ttggccaggc acatcccatc tcaggcagca
      961 agacaatctt tcactcactg acggcagcag ccatgtctct caaagtggtg aaactaatat
     1021 ctgagcatct tttagacaag agaggcaaag acaaactgga tttaatggcc caacatcaaa
     1081 gggtgaaccc aggatatgaa tttttgcatc ttcccattgt cgaattagtc tccagcctct
     1141 aaataatgcc cagtcttctc cccaaagtca agcaagagac tagttgaagg gagttctggg
     1201 gccaggctca ctggaccatt gtcacaaccc tctgtttctc tttgactaag tgccctggct
     1261 acaggaatta cacagttctc tttctccaaa gggcaagatc tcatttcaat ttctttatta
     1321 gagggcctta ttgatgtgtt ctaagtcttt ccagaaaaaa actatccagt gatttatatc
     1381 ctgatttcaa ccagtcactt agctgataat cacagtaaga agacttctgg tattatctct
     1441 ctatcagata agattttgtt aatgtactat tttactcttc aataaataaa agtttattat
     1501 ctcaa
//
LOCUS       NM_000561               1164 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens glutathione S-transferase mu 1 (GSTM1), transcript
            variant 1, mRNA.
ACCESSION   NM_000561
VERSION     NM_000561.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1164)
  AUTHORS   Li L, Wang A and Ke Y.
  TITLE     GSTM1 and GSTT1 polymorphisms and risk of preeclampsia: a system
            review and meta-analysis
  JOURNAL   J Matern Fetal Neonatal Med 36 (2), 2237623 (2023)
   PUBMED   37469043
  REMARK    GeneRIF: GSTM1 and GSTT1 polymorphisms and risk of preeclampsia: a
            system review and meta-analysis.
REFERENCE   2  (bases 1 to 1164)
  AUTHORS   Yang W, Liu W, Zhu L, Lin Y, Meng Z and Wang Y.
  TITLE     Association Between the XRCC1, GSTM1, and GSTT1 Polymorphisms in
            Model of Thyroid Cancer: A Meta-Analysis
  JOURNAL   Horm Metab Res 55 (9), 625-633 (2023)
   PUBMED   37678329
  REMARK    GeneRIF: Association Between the XRCC1, GSTM1, and GSTT1
            Polymorphisms in Model of Thyroid Cancer: A Meta-Analysis.
REFERENCE   3  (bases 1 to 1164)
  AUTHORS   Sobha SP and Kesavarao KE.
  TITLE     Progonostic effect of GSTM1/GSTT1 polymorphism in determining
            cardiovascular diseases risk among type 2 diabetes patients in South
            Indian population
  JOURNAL   Mol Biol Rep 50 (8), 6415-6423 (2023)
   PUBMED   37326751
  REMARK    GeneRIF: Progonostic effect of GSTM1/GSTT1 polymorphism in
            determining cardiovascular diseases risk among type 2 diabetes
            patients in South Indian population.
REFERENCE   4  (bases 1 to 1164)
  AUTHORS   Ren J, Jin H, Zhang C, Liu S, Han Y, Xi J, Cao J, Lin F, Zhang P,
            Zhang F, Zhang GH, Yang H, Huang H and Cao J.
  TITLE     Mixed exposure effect of seminal metals on semen quality, mediation
            of total antioxidant capacity, and moderation of GSTM1/GSTT1 gene
            deletion in Chinese reproductive-aged men
  JOURNAL   Environ Res 229, 115888 (2023)
   PUBMED   37054833
  REMARK    GeneRIF: Mixed exposure effect of seminal metals on semen quality,
            mediation of total antioxidant capacity, and moderation of
            GSTM1/GSTT1 gene deletion in Chinese reproductive-aged men.
REFERENCE   5  (bases 1 to 1164)
  AUTHORS   Qi M, Liu D, Wang H, Bianba C and Ji W.
  TITLE     Relationship between glutathione S-transferase M1 gene polymorphism
            and gastric cancer
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 68 (12), 49-53 (2022)
   PUBMED   37130181
  REMARK    GeneRIF: Relationship between glutathione S-transferase M1 gene
            polymorphism and gastric cancer. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1164)
  AUTHORS   Zhong S, Wolf CR and Spurr NK.
  TITLE     Chromosomal assignment and linkage analysis of the human glutathione
            S-transferase mu gene (GSTM1) using intron specific polymerase chain
            reaction
  JOURNAL   Hum Genet 90 (4), 435-439 (1992)
   PUBMED   1483702
REFERENCE   7  (bases 1 to 1164)
  AUTHORS   Singhal SS, Saxena M, Awasthi S, Ahmad H, Sharma R and Awasthi YC.
  TITLE     Gender related differences in the expression and characteristics of
            glutathione S-transferases of human colon
  JOURNAL   Biochim Biophys Acta 1171 (1), 19-26 (1992)
   PUBMED   1420361
REFERENCE   8  (bases 1 to 1164)
  AUTHORS   Bogaards JJ, van Ommen B and van Bladeren PJ.
  TITLE     Purification and characterization of eight glutathione S-transferase
            isoenzymes of hamster. Comparison of subunit composition of enzymes
            from liver, kidney, testis, pancreas and trachea
  JOURNAL   Biochem J 286 (Pt 2) (Pt 2), 383-388 (1992)
   PUBMED   1530570
REFERENCE   9  (bases 1 to 1164)
  AUTHORS   Strange RC, Fryer AA, Matharoo B, Zhao L, Broome J, Campbell DA,
            Jones P, Pastor IC and Singh RV.
  TITLE     The human glutathione S-transferases: comparison of isoenzyme
            expression in normal and astrocytoma brain
  JOURNAL   Biochim Biophys Acta 1139 (3), 222-228 (1992)
   PUBMED   1627661
REFERENCE   10  (bases 1 to 1164)
  AUTHORS   Singhal SS, Ahmad H, Sharma R, Gupta S, Haque AK and Awasthi YC.
  TITLE     Purification and characterization of human muscle glutathione
            S-transferases: evidence that glutathione S-transferase zeta
            corresponds to a locus distinct from GST1, GST2, and GST3
  JOURNAL   Arch Biochem Biophys 285 (1), 64-73 (1991)
   PUBMED   1846734
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC036805.1, X08020.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000309851.10/ ENSP00000311469.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB459176.1, X08020.1 and
            BC036805.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000561.3.
            Summary: Cytosolic and membrane-bound forms of glutathione
            S-transferase are encoded by two distinct supergene families. At
            present, eight distinct classes of the soluble cytoplasmic
            mammalian glutathione S-transferases have been identified: alpha,
            kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a
            glutathione S-transferase that belongs to the mu class. The mu
            class of enzymes functions in the detoxification of electrophilic
            compounds, including carcinogens, therapeutic drugs, environmental
            toxins and products of oxidative stress, by conjugation with
            glutathione. The genes encoding the mu class of enzymes are
            organized in a gene cluster on chromosome 1p13.3 and are known to
            be highly polymorphic. These genetic variations can change an
            individual's susceptibility to carcinogens and toxins as well as
            affect the toxicity and efficacy of certain drugs. Null mutations
            of this class mu gene have been linked with an increase in a number
            of cancers, likely due to an increased susceptibility to
            environmental toxins and carcinogens. Multiple protein isoforms are
            encoded by transcript variants of this gene. [provided by RefSeq,
            Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1164
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..1164
                     /gene="GSTM1"
                     /gene_synonym="GST1; GSTM1-1; GSTM1a-1a; GSTM1b-1b; GTH4;
                     GTM1; H-B; MU; MU-1"
                     /note="glutathione S-transferase mu 1"
                     /db_xref="GeneID:2944"
                     /db_xref="HGNC:HGNC:4632"
                     /db_xref="MIM:138350"
     misc_feature    7..9
                     /gene="GSTM1"
                     /gene_synonym="GST1; GSTM1-1; GSTM1a-1a; GSTM1b-1b; GTH4;
                     GTM1; H-B; MU; MU-1"
                     /note="upstream in-frame stop codon"
     CDS             58..714
                     /gene="GSTM1"
                     /gene_synonym="GST1; GSTM1-1; GSTM1a-1a; GSTM1b-1b; GTH4;
                     GTM1; H-B; MU; MU-1"
                     /EC_number="2.5.1.18"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glutathione S-transferase M1; S-(hydroxyalkyl)glutathione
                     lyase; GST class-mu 1; glutathione S-alkyltransferase;
                     glutathione S-aryltransferase; glutathione
                     S-aralkyltransferase; HB subunit 4; GST HB subunit 4"
                     /codon_start=1
                     /product="glutathione S-transferase Mu 1 isoform 1"
                     /protein_id="NP_000552.2"
                     /db_xref="CCDS:CCDS809.1"
                     /db_xref="GeneID:2944"
                     /db_xref="HGNC:HGNC:4632"
                     /db_xref="MIM:138350"
                     /translation="MPMILGYWDIRGLAHAIRLLLEYTDSSYEEKKYTMGDAPDYDRSQ
                     WLNEKFKLGLDFPNLPYLIDGAHKITQSNAILCYIARKHNLCGETEEEKIRVDILENQT
                     MDNHMQLGMICYNPEFEKLKPKYLEELPEKLKLYSEFLGKRPWFAGNKITFVDFLVYDV
                     LDLHRIFEPKCLDAFPNLKDFISRFEGLEKISAYMKSSRFLPRPVFSKMAVWGNK"
     misc_feature    157..159
                     /gene="GSTM1"
                     /gene_synonym="GST1; GSTM1-1; GSTM1a-1a; GSTM1b-1b; GTH4;
                     GTM1; H-B; MU; MU-1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P10649; propagated from
                     UniProtKB/Swiss-Prot (P09488.3); phosphorylation site"
     misc_feature    685..687
                     /gene="GSTM1"
                     /gene_synonym="GST1; GSTM1-1; GSTM1a-1a; GSTM1b-1b; GTH4;
                     GTM1; H-B; MU; MU-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04905; propagated from
                     UniProtKB/Swiss-Prot (P09488.3); phosphorylation site"
ORIGIN
        1 atactctgag ccctgctcgg tttaggcctg tctgcggaat ccgcaccaac cagcaccatg
       61 cccatgatac tggggtactg ggacatccgc gggctggccc acgccatccg cctgctcctg
      121 gaatacacag actcaagcta tgaggaaaag aagtacacga tgggggacgc tcctgattat
      181 gacagaagcc agtggctgaa tgaaaaattc aagctgggcc tggactttcc caatctgccc
      241 tacttgattg atggggctca caagatcacc cagagcaacg ccatcttgtg ctacattgcc
      301 cgcaagcaca acctgtgtgg ggagacagaa gaggagaaga ttcgtgtgga cattttggag
      361 aaccagacca tggacaacca tatgcagctg ggcatgatct gctacaatcc agaatttgag
      421 aaactgaagc caaagtactt ggaggaactc cctgaaaagc taaagctcta ctcagagttt
      481 ctggggaagc ggccatggtt tgcaggaaac aagatcactt ttgtagattt tctcgtctat
      541 gatgtccttg acctccaccg tatatttgag cccaagtgct tggacgcctt cccaaatctg
      601 aaggacttca tctcccgctt tgagggcttg gagaagatct ctgcctacat gaagtccagc
      661 cgcttcctcc caagacctgt gttctcaaag atggctgtct ggggcaacaa gtagggcctt
      721 gaaggccagg aggtgggagt gaggagccca tactcagcct gctgcccagg ctgtgcagcg
      781 cagctggact ctgcatccca gcacctgcct cctcgttcct ttctcctgtt tattcccatc
      841 tttactccca agacttcatt gtccctcttc actcccccta aacccctgtc ccatgcaggc
      901 cctttgaagc ctcagctacc cactatcctt cgtgaacatc ccctcccatc attacccttc
      961 cctgcactaa agccagcctg accttccttc ctgttagtgg ttgtgtctgc tttaaagggc
     1021 ctgcctggcc cctcgcctgt ggagctcagc cccgagctgt ccccgtgttg catgaaggag
     1081 cagcattgac tggtttacag gccctgctcc tgcagcatgg tccctgcctt aggcctacct
     1141 gatggaagta aagcctcaac caca
//
LOCUS       NM_000562               2367 bp    mRNA    linear   PRI 28-JUL-2023
DEFINITION  Homo sapiens complement C8 alpha chain (C8A), mRNA.
ACCESSION   NM_000562
VERSION     NM_000562.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2367)
  AUTHORS   Densen P, Ackermann L, Saucedo L, Figueroa JE, Si ZH and Stoltzfus
            CM.
  TITLE     A Point Mutation Creating a 3' Splice Site in C8A Is a Predominant
            Cause of C8alpha-gamma Deficiency in African Americans
  JOURNAL   J Immunol 205 (6), 1535-1539 (2020)
   PUBMED   32769119
  REMARK    GeneRIF: A Point Mutation Creating a 3' Splice Site in C8A Is a
            Predominant Cause of C8alpha-gamma Deficiency in African Americans.
REFERENCE   2  (bases 1 to 2367)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2367)
  AUTHORS   Menny A, Serna M, Boyd CM, Gardner S, Joseph AP, Morgan BP, Topf M,
            Brooks NJ and Bubeck D.
  TITLE     CryoEM reveals how the complement membrane attack complex ruptures
            lipid bilayers
  JOURNAL   Nat Commun 9 (1), 5316 (2018)
   PUBMED   30552328
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2367)
  AUTHORS   Franc V, Zhu J and Heck AJR.
  TITLE     Comprehensive Proteoform Characterization of Plasma Complement
            Component C8alphabetagamma by Hybrid Mass Spectrometry Approaches
  JOURNAL   J Am Soc Mass Spectrom 29 (6), 1099-1110 (2018)
   PUBMED   29532326
  REMARK    GeneRIF: These data provide a detailed specification of co-occurring
            C8 proteoforms, including experimental evidence on N-glycosylation,
            C-mannosylation, and O-glycosylation.
REFERENCE   5  (bases 1 to 2367)
  AUTHORS   Weiland MH, Qian Y and Sodetz JM.
  TITLE     Membrane pore formation by human complement: functional importance
            of the transmembrane beta-hairpin (TMH) segments of C8alpha and C9
  JOURNAL   Mol Immunol 57 (2), 310-316 (2014)
   PUBMED   24239861
REFERENCE   6  (bases 1 to 2367)
  AUTHORS   Theriault A, Boyd E, Whaley K, Sodetz JM and Connor JM.
  TITLE     Regional chromosomal assignment of genes encoding the alpha and beta
            subunits of human complement protein C8 to 1p32
  JOURNAL   Hum Genet 88 (6), 703-704 (1992)
   PUBMED   1551680
REFERENCE   7  (bases 1 to 2367)
  AUTHORS   Kaufman KM, Snider JV, Spurr NK, Schwartz CE and Sodetz JM.
  TITLE     Chromosomal assignment of genes encoding the alpha, beta, and gamma
            subunits of human complement protein C8: identification of a close
            physical linkage between the alpha and the beta loci
  JOURNAL   Genomics 5 (3), 475-480 (1989)
   PUBMED   2613233
REFERENCE   8  (bases 1 to 2367)
  AUTHORS   Densen P and McRill CM.
  TITLE     Differential functional expression of the C8 subunits. Primary role
            of C8 beta in assembly of intact C8
  JOURNAL   J Immunol 141 (8), 2674-2679 (1988)
   PUBMED   3171181
REFERENCE   9  (bases 1 to 2367)
  AUTHORS   Muller-Eberhard HJ.
  TITLE     Molecular organization and function of the complement system
  JOURNAL   Annu Rev Biochem 57, 321-347 (1988)
   PUBMED   3052276
  REMARK    Review article
REFERENCE   10  (bases 1 to 2367)
  AUTHORS   Rao AG, Howard OM, Ng SC, Whitehead AS, Colten HR and Sodetz JM.
  TITLE     Complementary DNA and derived amino acid sequence of the alpha
            subunit of human complement protein C8: evidence for the existence
            of a separate alpha subunit messenger RNA
  JOURNAL   Biochemistry 26 (12), 3556-3564 (1987)
   PUBMED   2820471
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M16974.1, BC132913.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145122,
            SAMEA2146982 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000361249.4/ ENSP00000354458.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121998.7 and M16974.1.
            On Aug 31, 2019 this sequence version replaced NM_000562.2.
            Summary: C8 is a component of the complement system and contains
            three polypeptides, alpha, beta and gamma. This gene encodes the
            alpha subunit of C8. C8 participates in the formation of the
            membrane attack complex (MAC). The MAC assembles on bacterial
            membranes to form a pore, permitting disruption of bacterial
            membrane organization. Mutations in this gene cause complement C8
            alpha-gamma deficiency. [provided by RefSeq, Nov 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..2367
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.2"
     gene            1..2367
                     /gene="C8A"
                     /note="complement C8 alpha chain"
                     /db_xref="GeneID:731"
                     /db_xref="HGNC:HGNC:1352"
                     /db_xref="MIM:120950"
     misc_feature    55..57
                     /gene="C8A"
                     /note="upstream in-frame stop codon"
     CDS             106..1860
                     /gene="C8A"
                     /note="complement component C8 alpha chain; complement
                     component 8 subunit alpha; complement component 8, alpha
                     polypeptide; complement component 8 alpha subunit"
                     /codon_start=1
                     /product="complement component C8 alpha chain
                     preproprotein"
                     /protein_id="NP_000553.1"
                     /db_xref="CCDS:CCDS606.1"
                     /db_xref="GeneID:731"
                     /db_xref="HGNC:HGNC:1352"
                     /db_xref="MIM:120950"
                     /translation="MFAVVFFILSLMTCQPGVTAQEKVNQRVRRAATPAAVTCQLSNWS
                     EWTDCFPCQDKKYRHRSLLQPNKFGGTICSGDIWDQASCSSSTTCVRQAQCGQDFQCKE
                     TGRCLKRHLVCNGDQDCLDGSDEDDCEDVRAIDEDCSQYEPIPGSQKAALGYNILTQED
                     AQSVYDASYYGGQCETVYNGEWRELRYDSTCERLYYGDDEKYFRKPYNFLKYHFEALAD
                     TGISSEFYDNANDLLSKVKKDKSDSFGVTIGIGPAGSPLLVGVGVSHSQDTSFLNELNK
                     YNEKKFIFTRIFTKVQTAHFKMRKDDIMLDEGMLQSLMELPDQYNYGMYAKFINDYGTH
                     YITSGSMGGIYEYILVIDKAKMESLGITSRDITTCFGGSLGIQYEDKINVGGGLSGDHC
                     KKFGGGKTERARKAMAVEDIISRVRGGSSGWSGGLAQNRSTITYRSWGRSLKYNPVVID
                     FEMQPIHEVLRHTSLGPLEAKRQNLRRALDQYLMEFNACRCGPCFNNGVPILEGTSCRC
                     QCRLGSLGAACEQTQTEGAKADGSWSCWSSWSVCRAGIQERRRECDNPAPQNGGASCPG
                     RKVQTQAC"
     sig_peptide     106..165
                     /gene="C8A"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     196..1857
                     /gene="C8A"
                     /product="Complement component C8 alpha chain.
                     /id=PRO_0000023586"
                     /note="propagated from UniProtKB/Swiss-Prot (P07357.2)"
     misc_feature    232..234
                     /gene="C8A"
                     /note="Not glycosylated; propagated from
                     UniProtKB/Swiss-Prot (P07357.2); other site"
     misc_feature    235..237
                     /gene="C8A"
                     /note="C-linked (Man) tryptophan.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P07357.2); glycosylation site"
     misc_feature    1414..1416
                     /gene="C8A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P07357.2); glycosylation site"
     misc_feature    1729..1731
                     /gene="C8A"
                     /note="C-linked (Man) tryptophan.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P07357.2); glycosylation site"
     misc_feature    1738..1740
                     /gene="C8A"
                     /note="C-linked (Man) tryptophan.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P07357.2); glycosylation site"
     misc_feature    1747..1749
                     /gene="C8A"
                     /note="C-linked (Man) tryptophan.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P07357.2); glycosylation site"
     misc_feature    1789..1857
                     /gene="C8A"
                     /note="propagated from UniProtKB/Swiss-Prot (P07357.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2126..2131
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8A"
                     /note="hexamer: AATAAA"
     polyA_site      2148
                     /gene="C8A"
     regulatory      2233..2238
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8A"
                     /note="hexamer: AACAAA"
     polyA_site      2250
                     /gene="C8A"
                     /note="major polyA site"
     regulatory      2341..2346
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8A"
                     /note="hexamer: ACTAAA"
     polyA_site      2348
                     /gene="C8A"
     polyA_site      2367
                     /gene="C8A"
ORIGIN
        1 agatagatct tacaggtccc agcctgtaga catcttttac tccaatttcc tgaatagata
       61 gctttattcc ttcaaggtaa tatagtgcgg tggcttctgg ctgagatgtt tgctgttgtt
      121 ttcttcatct tgtctttgat gacttgtcag cctggggtaa ctgcacagga gaaggtgaac
      181 cagagagtaa gacgggcagc tacacccgca gcagttacct gccagctgag caactggtca
      241 gagtggacag attgctttcc gtgccaggac aaaaagtacc gacaccggag cctcttgcag
      301 ccaaacaagt ttgggggaac catctgcagt ggtgacatct gggatcaagc cagctgctcc
      361 agttctacaa cttgtgtaag gcaagcacag tgtggacagg atttccagtg taaggagaca
      421 ggtcgctgcc tgaaacgcca ccttgtgtgt aatggagacc aggactgcct tgatggctct
      481 gatgaggacg actgtgaaga tgtcagggcc attgacgaag actgcagcca gtatgaacca
      541 attccaggat cacagaaggc agccttgggg tacaatatcc tgacccagga agatgctcag
      601 agtgtgtacg atgccagtta ttatgggggc cagtgtgaga cggtatacaa tggggaatgg
      661 agggagcttc gatatgactc cacctgtgaa cgtctctact atggagatga tgagaaatac
      721 tttcggaaac cctacaactt tctgaagtac cactttgaag ccctggcaga tactggaatc
      781 tcctcagagt tttatgataa tgcaaatgac cttctttcca aagttaaaaa agacaagtct
      841 gactcatttg gagtgaccat cggcataggc ccagccggca gccctttatt ggtgggtgta
      901 ggtgtatccc actcacaaga cacttcattc ttgaacgaat taaacaagta taatgagaag
      961 aaattcattt tcacaagaat cttcacaaag gtgcagactg cacattttaa gatgaggaag
     1021 gatgacatta tgctggatga aggaatgctg cagtcattaa tggagcttcc agatcagtac
     1081 aattatggca tgtatgccaa gttcatcaat gactatggca cccattacat cacatctgga
     1141 tccatgggtg gcatttatga atatatcctg gtgattgaca aagcaaaaat ggaatccctt
     1201 ggtattacca gcagagatat cacgacatgt tttggaggct ccttgggcat tcaatatgaa
     1261 gacaaaataa atgttggtgg aggtttatca ggagaccatt gtaaaaaatt tggaggtggc
     1321 aaaactgaaa gggccaggaa ggccatggct gtggaagaca ttatttctcg ggtgcgaggt
     1381 ggcagttctg gctggagcgg tggcttggca cagaacagga gcaccattac ataccgttcc
     1441 tgggggaggt cattaaagta taatcctgtt gttatcgatt ttgagatgca gcctatccac
     1501 gaggtgctgc ggcacacaag cctggggcct ctggaggcca agcgccagaa cctgcgccgc
     1561 gccttggacc agtatctgat ggaattcaat gcctgccgat gtgggccttg cttcaacaat
     1621 ggggtgccca tcctcgaggg caccagctgc aggtgccagt gccgcctggg tagcttgggt
     1681 gctgcctgtg agcaaacaca gacagaagga gccaaagcag atgggagctg gagttgctgg
     1741 agctcctggt ctgtatgcag agcaggcatc caggaaagga gaagagagtg tgacaatcca
     1801 gcacctcaga atggaggggc ctcgtgtcca gggcggaaag tacagacgca ggcttgctga
     1861 gggcctctgg acacaggctg gaccagatgc tgtggatgtc gacccctgca ctgactattg
     1921 gataaagact tctttcaact aagagaagat gcaaatcagc acactttttt ctttgttctg
     1981 ccagcttcca ggcctaagac taggttttgc tgtctacagc caactattct attagttaca
     2041 aaactcaatc attttattca gcaactggat gttgactgtt aactagaagc tctgtcctac
     2101 ttacagcact ttggatcatc aaaaaaataa agtaaaatag aaaactgaga aaactcaatc
     2161 catgaccagg gagaacttac aggatgttag agacaaaaca agcagacacc tgaaacaatc
     2221 aacgcccaat aaaacaaagt aggatgaaaa ttctcttagt tctttgataa caatttgttc
     2281 actcatagaa acattattaa ttggtagggt aagcagacac tctgaaacaa tgagaaaaat
     2341 actaaaaatt gacttgagtt atttcaa
//
LOCUS       NM_000565               5764 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens interleukin 6 receptor (IL6R), transcript variant 1,
            mRNA.
ACCESSION   NM_000565
VERSION     NM_000565.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5764)
  AUTHORS   Rodrigues FBB, da Silva R, Santos EFD, de Brito MTFM, da Silva ALS,
            de Meira Leite M, Povoa da Costa F, de Nazare do Socorro de Almeida
            Viana M, de Sarges KML, Cantanhede MHD, Verissimo AOL, Carvalho MDS,
            Henriques DF, Silva CPD, Costa IB, Nunes JAL, Costa IB, Viana GMR,
            Queiroz MAF, Lima SS, Lopes JDC, Torres MKDS, Vallinoto IMVC,
            Bichara CDA, Vallinoto ACR and Santos EJMD.
  TITLE     Association of Polymorphisms of IL-6 Pathway Genes (IL6, IL6R and
            IL6ST) with COVID-19 Severity in an Amazonian Population
  JOURNAL   Viruses 15 (5), 1197 (2023)
   PUBMED   37243282
  REMARK    GeneRIF: Association of Polymorphisms of IL-6 Pathway Genes (IL6,
            IL6R and IL6ST) with COVID-19 Severity in an Amazonian Population.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5764)
  AUTHORS   Uciechowski P and Dempke WCM.
  TITLE     Interleukin-6: A Masterplayer in the Cytokine Network
  JOURNAL   Oncology 98 (3), 131-137 (2020)
   PUBMED   31958792
  REMARK    Review article
REFERENCE   3  (bases 1 to 5764)
  AUTHORS   Schaper F and Rose-John S.
  TITLE     Interleukin-6: Biology, signaling and strategies of blockade
  JOURNAL   Cytokine Growth Factor Rev 26 (5), 475-487 (2015)
   PUBMED   26189695
  REMARK    Review article
REFERENCE   4  (bases 1 to 5764)
  AUTHORS   Hunter CA and Jones SA.
  TITLE     IL-6 as a keystone cytokine in health and disease
  JOURNAL   Nat Immunol 16 (5), 448-457 (2015)
   PUBMED   25898198
  REMARK    Review article Erratum:[Nat Immunol. 2017 Oct 18;18(11):1271. PMID:
            29044237]
REFERENCE   5  (bases 1 to 5764)
  AUTHORS   Mihara M, Hashizume M, Yoshida H, Suzuki M and Shiina M.
  TITLE     IL-6/IL-6 receptor system and its role in physiological and
            pathological conditions
  JOURNAL   Clin Sci (Lond) 122 (4), 143-159 (2012)
   PUBMED   22029668
  REMARK    Review article
REFERENCE   6  (bases 1 to 5764)
  AUTHORS   Boulanger MJ, Chow DC, Brevnova EE and Garcia KC.
  TITLE     Hexameric structure and assembly of the interleukin-6/IL-6
            alpha-receptor/gp130 complex
  JOURNAL   Science 300 (5628), 2101-2104 (2003)
   PUBMED   12829785
  REMARK    GeneRIF: a structural model, derived from 3.65 A resolution
            crystallographic data of the complex between IL-6, the extracellular
            binding domains of IL-6R, and the extracellular activation and
            binding domains of gp130 is presented Erratum:[Science. 2003 Aug
            15;301(5635):918]
REFERENCE   7  (bases 1 to 5764)
  AUTHORS   Kluck PM, Wiegant J, Jansen RP, Bolk MW, Raap AK, Willemze R and
            Landegent JE.
  TITLE     The human interleukin-6 receptor alpha chain gene is localized on
            chromosome 1 band q21
  JOURNAL   Hum Genet 90 (5), 542-544 (1993)
   PUBMED   8428753
REFERENCE   8  (bases 1 to 5764)
  AUTHORS   Schooltink H, Stoyan T, Roeb E, Heinrich PC and Rose-John S.
  TITLE     Ciliary neurotrophic factor induces acute-phase protein expression
            in hepatocytes
  JOURNAL   FEBS Lett 314 (3), 280-284 (1992)
   PUBMED   1281789
REFERENCE   9  (bases 1 to 5764)
  AUTHORS   Szpirer J, Szpirer C, Riviere M, Houart C, Baumann M, Fey GH, Poli
            V, Cortese R, Islam MQ and Levan G.
  TITLE     The Interleukin-6-dependent DNA-binding protein gene (transcription
            factor 5: TCF5) maps to human chromosome 20 and rat chromosome 3,
            the IL6 receptor locus (IL6R) to human chromosome 1 and rat
            chromosome 2, and the rat IL6 gene to rat chromosome 4
  JOURNAL   Genomics 10 (3), 539-546 (1991)
   PUBMED   1889804
REFERENCE   10  (bases 1 to 5764)
  AUTHORS   Yamasaki K, Taga T, Hirata Y, Yawata H, Kawanishi Y, Seed B,
            Taniguchi T, Hirano T and Kishimoto T.
  TITLE     Cloning and expression of the human interleukin-6 (BSF-2/IFN beta 2)
            receptor
  JOURNAL   Science 241 (4867), 825-828 (1988)
   PUBMED   3136546
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.4346137.1, X12830.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in cytokine storm inflammatory
            response
            MANE Ensembl match          :: ENST00000368485.8/ ENSP00000357470.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X12830.1, BC132684.1,
            AL162591.16 and AA035377.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 24, 2018 this sequence version replaced NM_000565.3.
            Summary: This gene encodes a subunit of the interleukin 6 (IL6)
            receptor complex. Interleukin 6 is a potent pleiotropic cytokine
            that regulates cell growth and differentiation and plays an
            important role in the immune response. The IL6 receptor is a
            protein complex consisting of this protein and interleukin 6 signal
            transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared
            by many other cytokines. Dysregulated production of IL6 and this
            receptor are implicated in the pathogenesis of many diseases, such
            as multiple myeloma, autoimmune diseases and prostate cancer.
            Alternatively spliced transcript variants encoding distinct
            isoforms have been identified in this gene. A pseudogene of this
            gene is found on chromosome 9. [provided by RefSeq, Aug 2020].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5764
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..5764
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="interleukin 6 receptor"
                     /db_xref="GeneID:3570"
                     /db_xref="HGNC:HGNC:6019"
                     /db_xref="MIM:147880"
     misc_feature    72..74
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="upstream in-frame stop codon"
     CDS             288..1694
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; CD126 antigen; membrane glycoprotein 80; IL-6 receptor
                     subunit alpha"
                     /codon_start=1
                     /product="interleukin-6 receptor subunit alpha isoform 1
                     precursor"
                     /protein_id="NP_000556.1"
                     /db_xref="CCDS:CCDS1067.1"
                     /db_xref="GeneID:3570"
                     /db_xref="HGNC:HGNC:6019"
                     /db_xref="MIM:147880"
                     /translation="MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTL
                     TCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRRLLLRSVQLHDSGNYSCYRAGRPAG
                     TVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAEDFQE
                     PCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANI
                     TVTAVARNPRWLSVTWQDPHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHD
                     AWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRSPPAENEVSTPMQALTTNKDD
                     DNILFRDSANATSLPVQDSSSVPLPTFLVAGGSLAFGTLLCIAIVLRFKKTWKLRALKE
                     GKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPDARDPRSPYD
                     ISNTDYFFPR"
     sig_peptide     288..344
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     345..1691
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /product="Interleukin-6 receptor subunit alpha.
                     /id=PRO_0000010895"
                     /note="propagated from UniProtKB/Swiss-Prot (P08887.1)"
     mat_peptide     345..1352
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /product="Soluble interleukin-6 receptor subunit alpha.
                     /id=PRO_0000450730"
                     /note="propagated from UniProtKB/Swiss-Prot (P08887.1)"
     misc_feature    450..452
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:10066782,
                     ECO:0000269|PubMed:28060820; propagated from
                     UniProtKB/Swiss-Prot (P08887.1); glycosylation site"
     misc_feature    564..566
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:10066782,
                     ECO:0000269|PubMed:28060820; propagated from
                     UniProtKB/Swiss-Prot (P08887.1); glycosylation site"
     misc_feature    948..950
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:10066782,
                     ECO:0000269|PubMed:28060820; propagated from
                     UniProtKB/Swiss-Prot (P08887.1); glycosylation site"
     misc_feature    1020..1022
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28060820; propagated from
                     UniProtKB/Swiss-Prot (P08887.1); glycosylation site"
     misc_feature    1020..1022
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="Not glycosylated.
                     /evidence=ECO:0000269|PubMed:10066782; propagated from
                     UniProtKB/Swiss-Prot (P08887.1); other site"
     misc_feature    1194..1271
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="propagated from UniProtKB/Swiss-Prot (P08887.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1194..1208
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="propagated from UniProtKB/Swiss-Prot (P08887.1);
                     Region: WSXWS motif"
     misc_feature    1335..1337
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28060820; propagated from
                     UniProtKB/Swiss-Prot (P08887.1); glycosylation site"
     misc_feature    1341..1343
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="O-linked (GlcNAc) threonine.
                     /evidence=ECO:0000269|PubMed:28060820; propagated from
                     UniProtKB/Swiss-Prot (P08887.1); glycosylation site"
     misc_feature    1350..1355
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="Cleavage, by ADAM10 and ADAM17.
                     /evidence=ECO:0000269|PubMed:28060820; propagated from
                     UniProtKB/Swiss-Prot (P08887.1); cleavage site"
     misc_feature    1383..1445
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="propagated from UniProtKB/Swiss-Prot (P08887.1);
                     transmembrane region"
     misc_feature    1548..1691
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="propagated from UniProtKB/Swiss-Prot (P08887.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      5744..5749
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="hexamer: AATAAA"
     polyA_site      5764
                     /gene="IL6R"
                     /gene_synonym="CD126; gp80; HIES5; IL-1Ra; IL-6R; IL-6R-1;
                     IL-6RA; IL6Q; IL6QTL; IL6RA; IL6RQ"
                     /note="major polyA site"
ORIGIN
        1 aaatgttttc ctgcgttgcc aggaccgtcc gccgctctga gtcatgtgcg agtgggaagt
       61 cgcactgaca ctgagccggg ccagagggag aggagccgag cgcggcgcgg ggccgaggga
      121 ctcgcagtgt gtgtagagag ccgggctcct gcggatgggg gctgcccccg gggcctgagc
      181 ccgcctgccc gcccaccgcc ccgccccgcc cctgccaccc ctgccgcccg gttcccatta
      241 gcctgtccgc ctctgcggga ccatggagtg gtagccgagg aggaagcatg ctggccgtcg
      301 gctgcgcgct gctggctgcc ctgctggccg cgccgggagc ggcgctggcc ccaaggcgct
      361 gccctgcgca ggaggtggcg agaggcgtgc tgaccagtct gccaggagac agcgtgactc
      421 tgacctgccc gggggtagag ccggaagaca atgccactgt tcactgggtg ctcaggaagc
      481 cggctgcagg ctcccacccc agcagatggg ctggcatggg aaggaggctg ctgctgaggt
      541 cggtgcagct ccacgactct ggaaactatt catgctaccg ggccggccgc ccagctggga
      601 ctgtgcactt gctggtggat gttccccccg aggagcccca gctctcctgc ttccggaaga
      661 gccccctcag caatgttgtt tgtgagtggg gtcctcggag caccccatcc ctgacgacaa
      721 aggctgtgct cttggtgagg aagtttcaga acagtccggc cgaagacttc caggagccgt
      781 gccagtattc ccaggagtcc cagaagttct cctgccagtt agcagtcccg gagggagaca
      841 gctctttcta catagtgtcc atgtgcgtcg ccagtagtgt cgggagcaag ttcagcaaaa
      901 ctcaaacctt tcagggttgt ggaatcttgc agcctgatcc gcctgccaac atcacagtca
      961 ctgccgtggc cagaaacccc cgctggctca gtgtcacctg gcaagacccc cactcctgga
     1021 actcatcttt ctacagacta cggtttgagc tcagatatcg ggctgaacgg tcaaagacat
     1081 tcacaacatg gatggtcaag gacctccagc atcactgtgt catccacgac gcctggagcg
     1141 gcctgaggca cgtggtgcag cttcgtgccc aggaggagtt cgggcaaggc gagtggagcg
     1201 agtggagccc ggaggccatg ggcacgcctt ggacagaatc caggagtcct ccagctgaga
     1261 acgaggtgtc cacccccatg caggcactta ctactaataa agacgatgat aatattctct
     1321 tcagagattc tgcaaatgcg acaagcctcc cagtgcaaga ttcttcttca gtaccactgc
     1381 ccacattcct ggttgctgga gggagcctgg ccttcggaac gctcctctgc attgccattg
     1441 ttctgaggtt caagaagacg tggaagctgc gggctctgaa ggaaggcaag acaagcatgc
     1501 atccgccgta ctctttgggg cagctggtcc cggagaggcc tcgacccacc ccagtgcttg
     1561 ttcctctcat ctccccaccg gtgtccccca gcagcctggg gtctgacaat acctcgagcc
     1621 acaaccgacc agatgccagg gacccacgga gcccttatga catcagcaat acagactact
     1681 tcttccccag atagctggct gggtggcacc agcagcctgg accctgtgga tgataaaaca
     1741 caaacgggct cagcaaaaga tgcttctcac tgccatgcca gcttatctca ggggtgtgcg
     1801 gcctttggct tcacggaaga gccttgcgga aggttctacg ccaggggaaa atcagcctgc
     1861 tccagctgtt cagctggttg aggtttcaaa cctccctttc caaatgccca gcttaaaggg
     1921 gctagagtga acttgggcca ctgtgaagag aaccatatca agactctttg gacactcaca
     1981 cggacactca aaagctgggc aggttggtgg gggcctcggt gtggagaagc ggctggcagc
     2041 ccacccctca acacctctgc acaagctgca ccctcaggca ggtgggatgg atttccagcc
     2101 aaagcctcct ccagccgcca tgctcctggc ccactgcatc gtttcatctt ccaactcaaa
     2161 ctcttaaaac ccaagtgcct tagcaaattc tgtttttcta ggcctgggga cggcttttac
     2221 ttaaaccgcc aaggctgggg gaagaagctc tctcctccct ttcttcccta cagttgaaaa
     2281 acagctgagg gtgagtgggt gaataataca gtatctcagg gcctggtcgt tttcaacaga
     2341 attataatta gttcctcatt agcattttgc taaatgtgaa tgatgatcct aggcatttgc
     2401 tgaatacaga ggcaactgca ttggctttgg gttgcaggac ctcaggtgag aagcagagga
     2461 aggagaggag aggggcacag ggtctctacc atcccctgta gagtgggagc tgagtggggg
     2521 atcacagcct ctgaaaacca atgttctctc ttctccacct cccacaaagg agagctagca
     2581 gcagggaggg cttctgccat ttctgagatc aaaacggttt tactgcagct ttgtttgttg
     2641 tcagctgaac ctgggtaact agggaagata atattaagga agacaatgtg aaaagaaaaa
     2701 tgagcctggc aagaatgtgt ttaaacttgg tttttaaaaa actgctgact gttttctctt
     2761 gagagggtgg aatatccaat attcgctgtg tcagcataga agtaacttac ttaggtgtgg
     2821 gggaagcacc ataactttgt ttagcccaaa accaagtcaa gtgaaaaagg aggaagagaa
     2881 aaaatatttt cctgccaggc atggtggccc acgcacttcg ggaggtcgag gcaggaggat
     2941 cacttgagtc cagaagtttg agatcagcct gggcaatgtg ataaaacccc atctctacaa
     3001 aaagcataaa aattagccaa gtgtggtaga gtgtgcctga agtcccagat acttgggggg
     3061 ctgaggtggg aggatctctt gagcctggga ggtcaaggct gcagtgagcc gagattgcac
     3121 cactgcactc cagcctgggt gacagagcaa gtgagaccct gtctcaaaaa aagaaaaaga
     3181 aaaagaaaaa atattttccc tattagagaa gagattgtgg tttcattctg tattttgttt
     3241 ttgtcttaaa aagtggaaaa atagcctgcc tcttctctac tctagggaaa aaccagcgtg
     3301 tgactactcc cccaggtggt tatggagagg gtgtccggtc cctgtcccag tgccgagaag
     3361 gaagcctccc acgactgccc ggcagggtcc tagaaattcc ccaccctgaa agccctgagc
     3421 tttctgctat caaagaggtt ttaaaaaaat cccatttaaa aaaaatccct tacctcggtg
     3481 ccttcctctt tttatttagt tccttgagtt gattcagctc tgcaagaatt gaagcaggac
     3541 taaatgtcta gttgtaacac catgattaac cacttcagct gacttttctg tccgagcttt
     3601 gaaaattcag tggtgttagt ggttacccag ttagctctca agttatcagg gtattccaga
     3661 gtggggatat gatttaaatc agccgtgtaa ccatggaccc aatatttacc agaccacaaa
     3721 acttttctaa tactctaccc tcttagaaaa accaccacca tcaccagaca ggtgcgaaag
     3781 gatgaaagtg accatgtttt gtttacggtt ttccaggttt aagctgttac tgtcttcagt
     3841 aagccgtgat tttcattgct gggcttgtct gtagatttta gaccctattg ctgcttgagg
     3901 caactcatct taggttggca aaaaggcagg atggccgggc gcggtggctc acgcctgtaa
     3961 tcctagcact ttgggaggcc aaggtgggag gattgcttga gctcaggagt ttgagaccaa
     4021 cctgggtaac atagtgagac accatctcta ttatgaacaa taacagttaa gaaaaaaaaa
     4081 ggcaggcagg cggttatggt ggttccctcc catcccacca cataaagttt ctgagacttg
     4141 agaacagcaa aatgctgtta aagggaaata ttaagaatga gaatctgcag taagggtgat
     4201 tctgtgccca cagttcttca attctttata ccgttttacc cacatgtggt gttaccaaag
     4261 ccgggcagaa ccatgctagc ggaagatgtg aaatccagat agctcattat tgccaagagc
     4321 taggcagctt tgatctccaa attgttattg ctttcatttt tattgtaatg gaattgcttt
     4381 gttttgtttt tttgtttttg tattgaagag ggttgttttc cctttatttt tcataagcta
     4441 atgtaaatga agaaaaaatg tcttctctgg gctgtaggcc tggctcagcg tacacaggta
     4501 tacatcctaa gctctctatg ttctctaatc tgtggtgact gaacatgtgt ctcaatgcac
     4561 ggggcatttc tacctgtgtt tctgcagcac ccccactgcc ttgagtcccc agcagtgctg
     4621 ttatttgcct aacacctgta gccatctgcc acgcagccag acgtgaaacg ctgagacaga
     4681 gaccatttag gttaaatacg acagcttatc ctgctgggtg gggaaagtaa aaaatatgct
     4741 ggttcaaggc ctaaagtaaa atgatcaata atgtttgtag cattaatgaa atattttcaa
     4801 gaaatgtgtc caggggtagc actggctatg ttgacgaggc ctttggtaac tcagagagct
     4861 cttggccctg atggggactt gcccttacgc tttctttatc aggctctgag ttcacacgga
     4921 gcctctggca cttccctgct gtcttgggag aaaggaaact ggttgccgcg gcaggttgtg
     4981 gaatctgttg ctggaaccag gctggaagcc cacctggtag tgaacagggc ccagtggggc
     5041 aggctgggca tgttgtggtc tatgggtttg tttcctggag aatgttcagg aatgtcttcc
     5101 cagctgcttt ggtgctgagc tctattatct cacagcacgt ccagaaggct aacccaggtg
     5161 gggaggatgc tgacaccagc tccaggtgga gttggtggtc ttaatttgga gatgcagggg
     5221 caacctgtga ccctttgagg caagagccct gcacccagct gtcccgtgca gccgtgggca
     5281 ggggctgcac acggaggggc aggcgggcca gttcagggtc cgtgccaggc cctcctcagt
     5341 gccctgtgaa ggcctcctgt cctccgtgcg gctgggcacc agcaccaggg agtttctatg
     5401 gcaaccttag tgattattaa ggaacactgt cagttttatg aacatatgct caaatgaaat
     5461 tctactttag gaggaaagga ttggaacagc atgtcacaag gctgttaatt aacagagaga
     5521 ccttattgga tggagatcac atctgttaaa tagaatacct caactctacg ttgttttctt
     5581 ggagataaat aatagtttca agtttttgtt tgtttgtttt acctaattac ctgaaagcaa
     5641 ataccaaagg ctgatgtctg tatatggggc aaagggtcag tatatttttc agtgtttttt
     5701 tttctaccag ctattttgca tttaaagtga acattgtgtt tggaataaat actcttaaaa
     5761 aata
//
LOCUS       NM_000566               1333 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens Fc gamma receptor Ia (FCGR1A), transcript variant 2,
            mRNA.
ACCESSION   NM_000566
VERSION     NM_000566.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1333)
  AUTHORS   Dimitrov E, Halacheva K, Minkov G, Enchev E and Yovtchev Y.
  TITLE     Prognostic performance of neutrophil CD64 expression in patients
            with complicated intra-abdominal infections - a prospective study
  JOURNAL   Scand J Clin Lab Invest 83 (5), 323-329 (2023)
   PUBMED   37352378
  REMARK    GeneRIF: Prognostic performance of neutrophil CD64 expression in
            patients with complicated intra-abdominal infections - a prospective
            study.
REFERENCE   2  (bases 1 to 1333)
  AUTHORS   Gonzalez-Lopez E, Odriozola Herran A, Renuncio Garcia M,
            Roa-Bautista A, Anton Rodriguez A, Comins-Boo A, Irure Ventura J,
            Puente A, Lopez-Hoyos M, Fortea JI and San Segundo D.
  TITLE     CD64 expression on neutrophils as a potential biomarker for
            bacterial infection in ascitic fluid of cirrhotic patients
  JOURNAL   Infect Dis (Lond) 55 (9), 646-652 (2023)
   PUBMED   37310691
  REMARK    GeneRIF: CD64 expression on neutrophils as a potential biomarker for
            bacterial infection in ascitic fluid of cirrhotic patients.
REFERENCE   3  (bases 1 to 1333)
  AUTHORS   Huang N, Chen J, Wei Y, Liu Y, Yuan K, Chen J, He M and Liu N.
  TITLE     Multi-marker approach using C-reactive protein, procalcitonin,
            neutrophil CD64 index for the prognosis of sepsis in intensive care
            unit: a retrospective cohort study
  JOURNAL   BMC Infect Dis 22 (1), 662 (2022)
   PUBMED   35907785
  REMARK    GeneRIF: Multi-marker approach using C-reactive protein,
            procalcitonin, neutrophil CD64 index for the prognosis of sepsis in
            intensive care unit: a retrospective cohort study. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 1333)
  AUTHORS   Maresco DL, Chang E, Theil KS, Francke U and Anderson CL.
  TITLE     The three genes of the human FCGR1 gene family encoding Fc gamma RI
            flank the centromere of chromosome 1 at 1p12 and 1q21
  JOURNAL   Cytogenet Cell Genet 73 (3), 157-163 (1996)
   PUBMED   8697799
REFERENCE   5  (bases 1 to 1333)
  AUTHORS   Takai S, Kasama M, Yamada K, Kai N, Hirayama N, Namiki H and
            Taniyama T.
  TITLE     Human high-affinity Fc gamma RI (CD64) gene mapped to chromosome
            1q21.2-q21.3 by fluorescence in situ hybridization
  JOURNAL   Hum Genet 93 (1), 13-15 (1994)
   PUBMED   8270248
REFERENCE   6  (bases 1 to 1333)
  AUTHORS   Porges AJ, Redecha PB, Doebele R, Pan LC, Salmon JE and Kimberly RP.
  TITLE     Novel Fc gamma receptor I family gene products in human mononuclear
            cells
  JOURNAL   J Clin Invest 90 (5), 2102-2109 (1992)
   PUBMED   1430234
REFERENCE   7  (bases 1 to 1333)
  AUTHORS   Benech PD, Sastry K, Iyer RR, Eichbaum QG, Raveh DP and Ezekowitz
            RA.
  TITLE     Definition of interferon gamma-response elements in a novel human Fc
            gamma receptor gene (Fc gamma RIb) and characterization of the gene
            structure
  JOURNAL   J Exp Med 176 (4), 1115-1123 (1992)
   PUBMED   1402657
REFERENCE   8  (bases 1 to 1333)
  AUTHORS   Ernst LK, van de Winkel JG, Chiu IM and Anderson CL.
  TITLE     Three genes for the human high affinity Fc receptor for IgG (Fc
            gamma RI) encode four distinct transcription products
  JOURNAL   J Biol Chem 267 (22), 15692-15700 (1992)
   PUBMED   1379234
REFERENCE   9  (bases 1 to 1333)
  AUTHORS   Pearse RN, Feinman R and Ravetch JV.
  TITLE     Characterization of the promoter of the human gene encoding the
            high-affinity IgG receptor: transcriptional induction by
            gamma-interferon is mediated through common DNA response elements
  JOURNAL   Proc Natl Acad Sci U S A 88 (24), 11305-11309 (1991)
   PUBMED   1837149
REFERENCE   10  (bases 1 to 1333)
  AUTHORS   Allen JM and Seed B.
  TITLE     Nucleotide sequence of three cDNAs for the human high affinity Fc
            receptor (FcRI)
  JOURNAL   Nucleic Acids Res 16 (24), 11824 (1988)
   PUBMED   2974947
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC032634.1, X14356.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369168.5/ ENSP00000358165.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC243772.2.
            On Mar 11, 2020 this sequence version replaced NM_000566.3.
            Summary: This gene encodes a protein that plays an important role
            in the immune response. This protein is a high-affinity Fc-gamma
            receptor. The gene is one of three related gene family members
            located on chromosome 1. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1333
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     gene            1..1333
                     /gene="FCGR1A"
                     /gene_synonym="CD64; CD64A; FCG1; FcgammaRI; FCGR1; FCRI;
                     IGFR1"
                     /note="Fc gamma receptor Ia"
                     /db_xref="GeneID:2209"
                     /db_xref="HGNC:HGNC:3613"
                     /db_xref="MIM:146760"
     CDS             51..1175
                     /gene="FCGR1A"
                     /gene_synonym="CD64; CD64A; FCG1; FcgammaRI; FCGR1; FCRI;
                     IGFR1"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; Fc fragment of IgG, high affinity Ia, receptor for
                     (CD64); Fc-gamma receptor I A1; Fc fragment of IgG receptor
                     Ia; high affinity immunoglobulin gamma Fc receptor I;
                     Fc-gamma RI; IgG Fc receptor I; fcgammaRIa; fc-gamma RIA;
                     Fc fragment of IgG, high affinity Ia, receptor (CD64)"
                     /codon_start=1
                     /product="high affinity immunoglobulin gamma Fc receptor I
                     isoform 2 precursor"
                     /protein_id="NP_000557.1"
                     /db_xref="CCDS:CCDS933.1"
                     /db_xref="GeneID:2209"
                     /db_xref="HGNC:HGNC:3613"
                     /db_xref="MIM:146760"
                     /translation="MWFLTTLLLWVPVDGQVDTTKAVITLQPPWVSVFQEETVTLHCEV
                     LHLPGSSSTQWFLNGTATQTSTPSYRITSASVNDSGEYRCQRGLSGRSDPIQLEIHRGW
                     LLLQVSSRVFTEGEPLALRCHAWKDKLVYNVLYYRNGKAFKFFHWNSNLTILKTNISHN
                     GTYHCSGMGKHRYTSAGISVTVKELFPAPVLNASVTSPLLEGNLVTLSCETKLLLQRPG
                     LQLYFSFYMGSKTLRGRNTSSEYQILTARREDSGLYWCEAATEDGNVLKRSPELELQVL
                     GLQLPTPVWFHVLFYLAVGIMFLVNTVLWVTIRKELKRKKKWDLEISLDSGHEKKVISS
                     LQEDRHLEEELKCQEQKEEQLQEGVHRKEPQGAT"
     sig_peptide     51..95
                     /gene="FCGR1A"
                     /gene_synonym="CD64; CD64A; FCG1; FcgammaRI; FCGR1; FCRI;
                     IGFR1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     96..1172
                     /gene="FCGR1A"
                     /gene_synonym="CD64; CD64A; FCG1; FcgammaRI; FCGR1; FCRI;
                     IGFR1"
                     /product="High affinity immunoglobulin gamma Fc receptor I.
                     /id=PRO_0000015139"
                     /note="propagated from UniProtKB/Swiss-Prot (P12314.2)"
     misc_feature    225..227
                     /gene="FCGR1A"
                     /gene_synonym="CD64; CD64A; FCG1; FcgammaRI; FCGR1; FCRI;
                     IGFR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21965667; propagated from
                     UniProtKB/Swiss-Prot (P12314.2); glycosylation site"
     misc_feature    282..284
                     /gene="FCGR1A"
                     /gene_synonym="CD64; CD64A; FCG1; FcgammaRI; FCGR1; FCRI;
                     IGFR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:21965667; propagated from
                     UniProtKB/Swiss-Prot (P12314.2); glycosylation site"
     misc_feature    504..506
                     /gene="FCGR1A"
                     /gene_synonym="CD64; CD64A; FCG1; FcgammaRI; FCGR1; FCRI;
                     IGFR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21965667; propagated from
                     UniProtKB/Swiss-Prot (P12314.2); glycosylation site"
     misc_feature    525..527
                     /gene="FCGR1A"
                     /gene_synonym="CD64; CD64A; FCG1; FcgammaRI; FCGR1; FCRI;
                     IGFR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21965667; propagated from
                     UniProtKB/Swiss-Prot (P12314.2); glycosylation site"
     misc_feature    537..539
                     /gene="FCGR1A"
                     /gene_synonym="CD64; CD64A; FCG1; FcgammaRI; FCGR1; FCRI;
                     IGFR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21965667; propagated from
                     UniProtKB/Swiss-Prot (P12314.2); glycosylation site"
     misc_feature    633..635
                     /gene="FCGR1A"
                     /gene_synonym="CD64; CD64A; FCG1; FcgammaRI; FCGR1; FCRI;
                     IGFR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21965667; propagated from
                     UniProtKB/Swiss-Prot (P12314.2); glycosylation site"
     misc_feature    768..770
                     /gene="FCGR1A"
                     /gene_synonym="CD64; CD64A; FCG1; FcgammaRI; FCGR1; FCRI;
                     IGFR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P12314.2); glycosylation site"
     misc_feature    927..989
                     /gene="FCGR1A"
                     /gene_synonym="CD64; CD64A; FCG1; FcgammaRI; FCGR1; FCRI;
                     IGFR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P12314.2);
                     transmembrane region"
     misc_feature    984..1046
                     /gene="FCGR1A"
                     /gene_synonym="CD64; CD64A; FCG1; FcgammaRI; FCGR1; FCRI;
                     IGFR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P12314.2);
                     Region: Interaction with EPB41L2.
                     /evidence=ECO:0000269|PubMed:18023480"
     misc_feature    1104..1172
                     /gene="FCGR1A"
                     /gene_synonym="CD64; CD64A; FCG1; FcgammaRI; FCGR1; FCRI;
                     IGFR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P12314.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1308..1313
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FCGR1A"
                     /gene_synonym="CD64; CD64A; FCG1; FcgammaRI; FCGR1; FCRI;
                     IGFR1"
                     /note="hexamer: AATAAA"
     polyA_site      1333
                     /gene="FCGR1A"
                     /gene_synonym="CD64; CD64A; FCG1; FcgammaRI; FCGR1; FCRI;
                     IGFR1"
                     /note="major polyA site"
ORIGIN
        1 aatatcttgc atgttacaga tttcactgct cccaccagct tggagacaac atgtggttct
       61 tgacaactct gctcctttgg gttccagttg atgggcaagt ggacaccaca aaggcagtga
      121 tcactttgca gcctccatgg gtcagcgtgt tccaagagga aaccgtaacc ttgcactgtg
      181 aggtgctcca tctgcctggg agcagctcta cacagtggtt tctcaatggc acagccactc
      241 agacctcgac ccccagctac agaatcacct ctgccagtgt caatgacagt ggtgaataca
      301 ggtgccagag aggtctctca gggcgaagtg accccataca gctggaaatc cacagaggct
      361 ggctactact gcaggtctcc agcagagtct tcacggaagg agaacctctg gccttgaggt
      421 gtcatgcgtg gaaggataag ctggtgtaca atgtgcttta ctatcgaaat ggcaaagcct
      481 ttaagttttt ccactggaat tctaacctca ccattctgaa aaccaacata agtcacaatg
      541 gcacctacca ttgctcaggc atgggaaagc atcgctacac atcagcagga atatctgtca
      601 ctgtgaaaga gctatttcca gctccagtgc tgaatgcatc tgtgacatcc ccactcctgg
      661 aggggaatct ggtcaccctg agctgtgaaa caaagttgct cttgcagagg cctggtttgc
      721 agctttactt ctccttctac atgggcagca agaccctgcg aggcaggaac acatcctctg
      781 aataccaaat actaactgct agaagagaag actctgggtt atactggtgc gaggctgcca
      841 cagaggatgg aaatgtcctt aagcgcagcc ctgagttgga gcttcaagtg cttggcctcc
      901 agttaccaac tcctgtctgg tttcatgtcc ttttctatct ggcagtggga ataatgtttt
      961 tagtgaacac tgttctctgg gtgacaatac gtaaagaact gaaaagaaag aaaaagtggg
     1021 atttagaaat ctctttggat tctggtcatg agaagaaggt aatttccagc cttcaagaag
     1081 acagacattt agaagaagag ctgaaatgtc aggaacaaaa agaagaacag ctgcaggaag
     1141 gggtgcaccg gaaggagccc cagggggcca cgtagcagcg gctcagtggg tggccatcga
     1201 tctggaccgt cccctgccca cttgctcccc gtgagcactg cgtacaaaca tccaaaagtt
     1261 caacaacacc agaactgtgt gtctcatggt atgtaactct taaagcaaat aaatgaactg
     1321 acttcaactg gga
//
LOCUS       NM_000567               2015 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens C-reactive protein (CRP), transcript variant 2, mRNA.
ACCESSION   NM_000567
VERSION     NM_000567.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2015)
  AUTHORS   Moradi Haghgoo J, Torkzaban P, Farhadian M and Moosavi Sedeh SA.
  TITLE     Association between the severity of periodontitis, COVID-19,
            C-reactive protein and interleukin-6 levels in hospitalized
            patients: a case-control study
  JOURNAL   BMC Oral Health 23 (1), 556 (2023)
   PUBMED   37568161
  REMARK    GeneRIF: Association between the severity of periodontitis,
            COVID-19, C-reactive protein and interleukin-6 levels in
            hospitalized patients: a case-control study. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2015)
  AUTHORS   Sun J, Wang W, Li D, Song J, Chen Z, Chen L, Smeets R, Beikler T,
            Strenge J, Yang Z and Friedrich RE.
  TITLE     Association between C-Reactive protein and periodontitis in an obese
            population from the NHANES 2009-2010
  JOURNAL   BMC Oral Health 23 (1), 512 (2023)
   PUBMED   37481511
  REMARK    GeneRIF: Association between C-Reactive protein and periodontitis in
            an obese population from the NHANES 2009-2010. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 2015)
  AUTHORS   Karasahin O and Inan Sarikaya R.
  TITLE     [The Role of Blood Urea Nitrogen and C-Reactive Protein and Their
            Ratios to Albumin in Predicting Mortality in Crimean-Congo
            Hemorrhagic Fever]
  JOURNAL   Mikrobiyol Bul 57 (3), 419-431 (2023)
   PUBMED   37462305
  REMARK    GeneRIF: [The Role of Blood Urea Nitrogen and C-Reactive Protein and
            Their Ratios to Albumin in Predicting Mortality in Crimean-Congo
            Hemorrhagic Fever].
REFERENCE   4  (bases 1 to 2015)
  AUTHORS   Ma YJ and Garred P.
  TITLE     Pentraxins in Complement Activation and Regulation
  JOURNAL   Front Immunol 9, 3046 (2018)
   PUBMED   30619374
  REMARK    Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2015)
  AUTHORS   Lu J, Mold C, Du Clos TW and Sun PD.
  TITLE     Pentraxins and Fc Receptor-Mediated Immune Responses
  JOURNAL   Front Immunol 9, 2607 (2018)
   PUBMED   30483265
  REMARK    Review article Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2015)
  AUTHORS   Pepys MB.
  TITLE     The Pentraxins 1975-2018: Serendipity, Diagnostics and Drugs
  JOURNAL   Front Immunol 9, 2382 (2018)
   PUBMED   30459761
  REMARK    Review article Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2015)
  AUTHORS   Badimon L, Pena E, Arderiu G, Padro T, Slevin M, Vilahur G and
            Chiva-Blanch G.
  TITLE     C-Reactive Protein in Atherothrombosis and Angiogenesis
  JOURNAL   Front Immunol 9, 430 (2018)
   PUBMED   29552019
  REMARK    Review article Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2015)
  AUTHORS   Oliveira,E.B., Gotschlich,C. and Liu,T.Y.
  TITLE     Primary structure of human C-reactive protein
  JOURNAL   J Biol Chem 254 (2), 489-502 (1979)
   PUBMED   762075
REFERENCE   9  (bases 1 to 2015)
  AUTHORS   Osmand,A.P., Gerwurz,H. and Friedenson,B.
  TITLE     Partial amino-acid sequences of human and rabbit C-reactive
            proteins: homology with immunoglobulins and histocompatibility
            antigens
  JOURNAL   Proc Natl Acad Sci U S A 74 (3), 1214-1218 (1977)
   PUBMED   403526
REFERENCE   10  (bases 1 to 2015)
  AUTHORS   Osmand,A.P., Friedenson,B., Gewurz,H., Painter,R.H., Hofmann,T. and
            Shelton,E.
  TITLE     Characterization of C-reactive protein and the complement
            subcomponent C1t as homologous proteins displaying cyclic pentameric
            symmetry (pentraxins)
  JOURNAL   Proc Natl Acad Sci U S A 74 (2), 739-743 (1977)
   PUBMED   265538
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.209230.1,
            SRR5189658.167882.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in cytokine storm inflammatory
            response
            MANE Ensembl match          :: ENST00000255030.9/ ENSP00000255030.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG533281.1, X56214.1, X56692.1,
            BG618967.1 and AI609949.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000567.2.
            Summary: The protein encoded by this gene belongs to the pentraxin
            family which also includes serum amyloid P component protein and
            pentraxin 3. Pentraxins are involved in complement activation and
            amplification via communication with complement initiation pattern
            recognition molecules, but also complement regulation via
            recruitment of complement regulators. The encoded protein has a
            calcium dependent ligand binding domain with a distinctive
            flattened beta-jellyroll structure. It exists in two forms as
            either a pentamer in circulation or as a nonsoluble monomer in
            tissues. It is involved in several host defense related functions
            based on its ability to recognize foreign pathogens and damaged
            cells of the host and to initiate their elimination by interacting
            with humoral and cellular effector systems in the blood.
            Consequently, the level of this protein in plasma increases greatly
            during acute phase response to tissue injury, infection, or other
            inflammatory stimuli. Elevated expression of the encoded protein is
            associated with severe acute respiratory syndrome coronavirus 2
            (SARS&#8208;CoV&#8208;2) infection. [provided by RefSeq, Aug 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2015
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.2"
     gene            1..2015
                     /gene="CRP"
                     /gene_synonym="PTX1"
                     /note="C-reactive protein"
                     /db_xref="GeneID:1401"
                     /db_xref="HGNC:HGNC:2367"
                     /db_xref="MIM:123260"
     misc_feature    30..32
                     /gene="CRP"
                     /gene_synonym="PTX1"
                     /note="upstream in-frame stop codon"
     CDS             105..779
                     /gene="CRP"
                     /gene_synonym="PTX1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     2; pentraxin 1; C-reactive protein, pentraxin-related"
                     /codon_start=1
                     /product="C-reactive protein isoform 1 precursor"
                     /protein_id="NP_000558.2"
                     /db_xref="CCDS:CCDS30911.1"
                     /db_xref="GeneID:1401"
                     /db_xref="HGNC:HGNC:2367"
                     /db_xref="MIM:123260"
                     /translation="MEKLLCFLVLTSLSHAFGQTDMSRKAFVFPKESDTSYVSLKAPLT
                     KPLKAFTVCLHFYTELSSTRGYSIFSYATKRQDNEILIFWSKDIGYSFTVGGSEILFEV
                     PEVTVAPVHICTSWESASGIVEFWVDGKPRVRKSLKKGYTVGAEASIILGQEQDSFGGN
                     FEGSQSLVGDIGNVNMWDFVLSPDEINTIYLGGPFSPNVLNWRALKYEVQGEVFTKPQL
                     WP"
     sig_peptide     105..158
                     /gene="CRP"
                     /gene_synonym="PTX1"
                     /note="/evidence=ECO:0000269|PubMed:762075; propagated from
                     UniProtKB/Swiss-Prot (P02741.1)"
     mat_peptide     159..776
                     /gene="CRP"
                     /gene_synonym="PTX1"
                     /product="C-reactive protein. /id=PRO_0000023526"
                     /note="propagated from UniProtKB/Swiss-Prot (P02741.1)"
     mat_peptide     159..773
                     /gene="CRP"
                     /gene_synonym="PTX1"
                     /product="C-reactive protein(1-205). /id=PRO_0000023527"
                     /note="propagated from UniProtKB/Swiss-Prot (P02741.1)"
     misc_feature    159..161
                     /gene="CRP"
                     /gene_synonym="PTX1"
                     /note="Pyrrolidone carboxylic acid.
                     /evidence=ECO:0000269|PubMed:762075; propagated from
                     UniProtKB/Swiss-Prot (P02741.1);
                     pyrrolidone-carboxylic-acid site"
     regulatory      1994..1999
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRP"
                     /gene_synonym="PTX1"
                     /note="hexamer: AATAAA"
     polyA_site      2015
                     /gene="CRP"
                     /gene_synonym="PTX1"
                     /note="major polyA site"
ORIGIN
        1 aaggcaagag atctaggact tctagcccct gaactttcag ccgaatacat cttttccaaa
       61 ggagtgaatt caggcccttg tatcactggc agcaggacgt gaccatggag aagctgttgt
      121 gtttcttggt cttgaccagc ctctctcatg cttttggcca gacagacatg tcgaggaagg
      181 cttttgtgtt tcccaaagag tcggatactt cctatgtatc cctcaaagca ccgttaacga
      241 agcctctcaa agccttcact gtgtgcctcc acttctacac ggaactgtcc tcgacccgtg
      301 ggtacagtat tttctcgtat gccaccaaga gacaagacaa tgagattctc atattttggt
      361 ctaaggatat aggatacagt tttacagtgg gtgggtctga aatattattc gaggttcctg
      421 aagtcacagt agctccagta cacatttgta caagctggga gtccgcctca gggatcgtgg
      481 agttctgggt agatgggaag cccagggtga ggaagagtct gaagaaggga tacactgtgg
      541 gggcagaagc aagcatcatc ttggggcagg agcaggattc cttcggtggg aactttgaag
      601 gaagccagtc cctggtggga gacattggaa atgtgaacat gtgggacttt gtgctgtcac
      661 cagatgagat taacaccatc tatcttggcg ggcccttcag tcctaatgtc ctgaactggc
      721 gggcactgaa gtatgaagtg caaggcgaag tgttcaccaa accccagctg tggccctgag
      781 gcccagctgt gggtcctgaa ggtacctccc ggttttttac accgcatggg ccccacgtct
      841 ctgtctctgg tacctcccgc ttttttacac tgcatggttc ccacgtctct gtctctgggc
      901 ctttgttccc ctatatgcat tgcaggcctg ctccaccctc ctcagcgcct gagaatggag
      961 gtaaagtgtc tggtctggga gctcgttaac tatgctggga aacggtccaa aagaatcaga
     1021 atttgaggtg ttttgttttc atttttattt caagttggac agatcttgga gataatttct
     1081 tacctcacat agatgagaaa actaacaccc agaaaggaga aatgatgtta taaaaaactc
     1141 ataaggcaag agctgagaag gaagcgctga tcttctattt aattccccac ccatgacccc
     1201 cagaaagcag gagggcattg cccacattca cagggctctt cagtctcaga atcaggacac
     1261 tggccaggtg tctggtttgg gtccagagtg ctcatcatca tgtcatagaa ctgctgggcc
     1321 caggtctcct gaaatgggaa gcccagcaat accacgcagt ccctccactt tctcaaagca
     1381 cactggaaag gccattagaa ttgccccagc agagcagatc tgcttttttt ccagagcaaa
     1441 atgaagcact aggtataaat atgttgttac tgccaagaac ttaaatgact ggtttttgtt
     1501 tgcttgcagt gctttcttaa ttttatggct cttctgggaa actcctcccc ttttccacac
     1561 gaaccttgtg gggctgtgaa ttctttcttc atccccgcat tcccaatata cccaggccac
     1621 aagagtggac gtgaaccaca gggtgtcctg tcagaggagc ccatctccca tctccccagc
     1681 tccctatctg gaggatagtt ggatagttac gtgttcctag caggaccaac tacagtcttc
     1741 ccaaggattg agttatggac tttgggagtg agacatcttc ttgctgctgg atttccaagc
     1801 tgagaggacg tgaacctggg accaccagta gccatcttgt ttgccacatg gagagagact
     1861 gtgaggacag aagccaaact ggaagtggag gagccaaggg attgacaaac aacagagcct
     1921 tgaccacgtg gagtctctga atcagccttg tctggaacca gatctacacc tggactgccc
     1981 aggtctataa gccaataaag cccctgttta cttga
//
LOCUS       NM_000569               2100 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens Fc gamma receptor IIIa (FCGR3A), transcript variant 1,
            mRNA.
ACCESSION   NM_000569
VERSION     NM_000569.8
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2100)
  AUTHORS   Sugawara S, Hueber B, Woolley G, Terry K, Kroll K, Manickam C, Ram
            DR, Ndhlovu LC, Goepfert P, Jost S and Reeves RK.
  TITLE     Multiplex interrogation of the NK cell signalome reveals global
            downregulation of CD16 signaling during lentivirus infection through
            an IL-18/ADAM17-dependent mechanism
  JOURNAL   PLoS Pathog 19 (9), e1011629 (2023)
   PUBMED   37669308
  REMARK    GeneRIF: Multiplex interrogation of the NK cell signalome reveals
            global downregulation of CD16 signaling during lentivirus infection
            through an IL-18/ADAM17-dependent mechanism. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2100)
  AUTHORS   Lee YH and Song GG.
  TITLE     Association between the functional FCGR3A F158V and FCGR2A R131H
            polymorphisms and responsiveness to biologics in rheumatoid
            arthritis patients: A meta-analysis
  JOURNAL   Int J Rheum Dis 26 (7), 1295-1304 (2023)
   PUBMED   37114884
  REMARK    GeneRIF: Association between the functional FCGR3A F158V and FCGR2A
            R131H polymorphisms and responsiveness to biologics in rheumatoid
            arthritis patients: A meta-analysis.
REFERENCE   3  (bases 1 to 2100)
  AUTHORS   Habets DHJ, Al-Nasiry S, Nagelkerke SQ, Voorter CEM, Spaanderman
            MEA, Kuijpers TW and Wieten L.
  TITLE     Analysis of FCGR3A-p.176Val variants in women with recurrent
            pregnancy loss and the association with CD16a expression and
            anti-HLA antibody status
  JOURNAL   Sci Rep 13 (1), 5232 (2023)
   PUBMED   36997584
  REMARK    GeneRIF: Analysis of FCGR3A-p.176Val variants in women with
            recurrent pregnancy loss and the association with CD16a expression
            and anti-HLA antibody status. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2100)
  AUTHORS   Qi J, Zhou X, Bai Z, Lu Z, Zhu X, Liu J, Wang J, Jin M, Liu C and Li
            X.
  TITLE     FcgammaRIIIA activation-mediated up-regulation of glycolysis alters
            MDSCs modulation in CD4+ T cell subsets of Sjogren syndrome
  JOURNAL   Cell Death Dis 14 (2), 86 (2023)
   PUBMED   36746935
  REMARK    GeneRIF: FcgammaRIIIA activation-mediated up-regulation of
            glycolysis alters MDSCs modulation in CD4[+] T cell subsets of
            Sjogren syndrome. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2100)
  AUTHORS   Ebonwu J, Lassauniere R, Paximadis M, Strehlau R, Gray GE, Kuhn L
            and Tiemessen CT.
  TITLE     FCGR3A gene duplication, FcgammaRIIb-232TT and FcgammaRIIIb-HNA1a
            associate with an increased risk of vertical acquisition of HIV-1
  JOURNAL   PLoS One 17 (9), e0273933 (2022)
   PUBMED   36084039
  REMARK    GeneRIF: FCGR3A gene duplication, FcgammaRIIb-232TT and
            FcgammaRIIIb-HNA1a associate with an increased risk of vertical
            acquisition of HIV-1. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2100)
  AUTHORS   Wu J, Mishra HK and Walcheck B.
  TITLE     Role of ADAM17 as a regulatory checkpoint of CD16A in NK cells and
            as a potential target for cancer immunotherapy
  JOURNAL   J Leukoc Biol 105 (6), 1297-1303 (2019)
   PUBMED   30786043
  REMARK    GeneRIF: Role of ADAM17 as a regulatory checkpoint of CD16A in NK
            cells and as a potential target for cancer immunotherapy. Review
            article
REFERENCE   7  (bases 1 to 2100)
  AUTHORS   Lanier LL, Yu G and Phillips JH.
  TITLE     Analysis of Fc gamma RIII (CD16) membrane expression and association
            with CD3 zeta and Fc epsilon RI-gamma by site-directed mutation
  JOURNAL   J Immunol 146 (5), 1571-1576 (1991)
   PUBMED   1825220
REFERENCE   8  (bases 1 to 2100)
  AUTHORS   Qiu WQ, de Bruin D, Brownstein BH, Pearse R and Ravetch JV.
  TITLE     Organization of the human and mouse low-affinity Fc gamma R genes:
            duplication and recombination
  JOURNAL   Science 248 (4956), 732-735 (1990)
   PUBMED   2139735
REFERENCE   9  (bases 1 to 2100)
  AUTHORS   Anderson P, Caligiuri M, O'Brien C, Manley T, Ritz J and Schlossman
            SF.
  TITLE     Fc gamma receptor type III (CD16) is included in the zeta NK
            receptor complex expressed by human natural killer cells
  JOURNAL   Proc Natl Acad Sci U S A 87 (6), 2274-2278 (1990)
   PUBMED   2138330
REFERENCE   10  (bases 1 to 2100)
  AUTHORS   Le Coniat M, Kinet JP and Berger R.
  TITLE     The human genes for the alpha and gamma subunits of the mast cell
            receptor for immunoglobulin E are located on human chromosome band
            1q23
  JOURNAL   Immunogenetics 32 (3), 183-186 (1990)
   PUBMED   2146219
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC036723.1, AK223268.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related         :: involved in SARS-CoV-2 infection
            MANE Ensembl match          :: ENST00000443193.6/ ENSP00000392047.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK302126.1 and BC033678.1.
            On Mar 9, 2020 this sequence version replaced NM_000569.7.
            Summary: This gene encodes a receptor for the Fc portion of
            immunoglobulin G, and it is involved in the removal of
            antigen-antibody complexes from the circulation, as well as other
            responses, including antibody dependent cellular mediated
            cytotoxicity and antibody dependent enhancement of virus
            infections. This gene (FCGR3A) is highly similar to another nearby
            gene (FCGR3B) located on chromosome 1. The receptor encoded by this
            gene is expressed on natural killer (NK) cells as an integral
            membrane glycoprotein anchored through a transmembrane peptide,
            whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN)
            where the receptor is anchored through a phosphatidylinositol (PI)
            linkage. Mutations in this gene are associated with
            immunodeficiency 20, and have been linked to susceptibility to
            recurrent viral infections, susceptibility to systemic lupus
            erythematosus, and alloimmune neonatal neutropenia. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Aug 2020].
            Transcript Variant: This variant (1) retains an intron in its 5'
            UTR and 5' coding region compared to variant 3. Variants 1, 3, 4
            and 6 encode the same isoform (c).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2100
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..2100
                     /gene="FCGR3A"
                     /gene_synonym="CD16; CD16-II; CD16A; FCG3; FCGR3; FCGRIII;
                     FcGRIIIA; FCR-10; FCRIII; FCRIIIA; IGFR3; IMD20"
                     /note="Fc gamma receptor IIIa"
                     /db_xref="GeneID:2214"
                     /db_xref="HGNC:HGNC:3619"
                     /db_xref="MIM:146740"
     CDS             83..847
                     /gene="FCGR3A"
                     /gene_synonym="CD16; CD16-II; CD16A; FCG3; FCGR3; FCGRIII;
                     FcGRIIIA; FCR-10; FCRIII; FCRIIIA; IGFR3; IMD20"
                     /note="isoform c precursor is encoded by transcript variant
                     1; Fc fragment of IgG, low affinity III, receptor for
                     (CD16); low affinity immunoglobulin gamma Fc region
                     receptor III-A; Fc fragment of IgG, low affinity IIIa,
                     receptor (CD16a); immunoglobulin G Fc receptor III;
                     Fc-gamma receptor III-2 (CD 16); Fc-gamma RIII-alpha;
                     neutrophil-specific antigen NA; low affinity immunoglobulin
                     gamma Fc region receptor III-B; FcgammaRIIIA; IgG Fc
                     receptor III-A; low affinity immunoglobulin gamma receptor
                     III-a Fc fragment; Fc gamma receptor III-A; Fc fragment of
                     IgG receptor IIIa; Fc-gamma receptor IIIb (CD16); CD16a
                     antigen; igG Fc receptor III-2; low affinity immunoglobulin
                     gamma Fc region receptor III-A/III-B recombinant"
                     /codon_start=1
                     /product="low affinity immunoglobulin gamma Fc region
                     receptor III-A isoform c precursor"
                     /protein_id="NP_000560.7"
                     /db_xref="CCDS:CCDS44266.1"
                     /db_xref="GeneID:2214"
                     /db_xref="HGNC:HGNC:3619"
                     /db_xref="MIM:146740"
                     /translation="MWQLLLPTALLLLVSAGMRTEDLPKAVVFLEPQWYRVLEKDSVTL
                     KCQGAYSPEDNSTQWFHNESLISSQASSYFIDAATVDDSGEYRCQTNLSTLSDPVQLEV
                     HIGWLLLQAPRWVFKEEDPIHLRCHSWKNTALHKVTYLQNGKGRKYFHHNSDFYIPKAT
                     LKDSGSYFCRGLFGSKNVSSETVNITITQGLAVSTISSFFPPGYQVSFCLVMVLLFAVD
                     TGLYFSVKTNIRSSTRDWKDHKFKWRKDPQDK"
     sig_peptide     83..133
                     /gene="FCGR3A"
                     /gene_synonym="CD16; CD16-II; CD16A; FCG3; FCGR3; FCGRIII;
                     FcGRIIIA; FCR-10; FCRIII; FCRIIIA; IGFR3; IMD20"
                     /experiment="EXISTENCE:protein separation followed by
                     direct sequencing evidence [ECO:0000158][PMID:2525780]"
     mat_peptide     134..844
                     /gene="FCGR3A"
                     /gene_synonym="CD16; CD16-II; CD16A; FCG3; FCGR3; FCGRIII;
                     FcGRIIIA; FCR-10; FCRIII; FCRIIIA; IGFR3; IMD20"
                     /product="low affinity immunoglobulin gamma Fc region
                     receptor III-A isoform c"
                     /experiment="EXISTENCE:protein separation followed by
                     direct sequencing evidence [ECO:0000158][PMID:2525780]"
     regulatory      2019..2024
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FCGR3A"
                     /gene_synonym="CD16; CD16-II; CD16A; FCG3; FCGR3; FCGRIII;
                     FcGRIIIA; FCR-10; FCRIII; FCRIIIA; IGFR3; IMD20"
                     /note="hexamer: AATAAA"
     polyA_site      2037
                     /gene="FCGR3A"
                     /gene_synonym="CD16; CD16-II; CD16A; FCG3; FCGR3; FCGRIII;
                     FcGRIIIA; FCR-10; FCRIII; FCRIIIA; IGFR3; IMD20"
                     /note="major polyA site"
     regulatory      2080..2085
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FCGR3A"
                     /gene_synonym="CD16; CD16-II; CD16A; FCG3; FCGR3; FCGRIII;
                     FcGRIIIA; FCR-10; FCRIII; FCRIIIA; IGFR3; IMD20"
                     /note="hexamer: AATAAA"
     polyA_site      2100
                     /gene="FCGR3A"
                     /gene_synonym="CD16; CD16-II; CD16A; FCG3; FCGR3; FCGRIII;
                     FcGRIIIA; FCR-10; FCRIII; FCRIIIA; IGFR3; IMD20"
                     /note="major polyA site"
ORIGIN
        1 gtttacttcc tcctgtctag tcggtttggt ccctttaggg ctccggatat ctttggtgac
       61 ttgtccactc cagtgtggca tcatgtggca gctgctcctc ccaactgctc tgctacttct
      121 agtttcagct ggcatgcgga ctgaagatct cccaaaggct gtggtgttcc tggagcctca
      181 atggtacagg gtgctcgaga aggacagtgt gactctgaag tgccagggag cctactcccc
      241 tgaggacaat tccacacagt ggtttcacaa tgagagcctc atctcaagcc aggcctcgag
      301 ctacttcatt gacgctgcca cagtcgacga cagtggagag tacaggtgcc agacaaacct
      361 ctccaccctc agtgacccgg tgcagctaga agtccatatc ggctggctgt tgctccaggc
      421 ccctcggtgg gtgttcaagg aggaagaccc tattcacctg aggtgtcaca gctggaagaa
      481 cactgctctg cataaggtca catatttaca gaatggcaaa ggcaggaagt attttcatca
      541 taattctgac ttctacattc caaaagccac actcaaagac agcggctcct acttctgcag
      601 ggggcttttt gggagtaaaa atgtgtcttc agagactgtg aacatcacca tcactcaagg
      661 tttggcagtg tcaaccatct catcattctt tccacctggg taccaagtct ctttctgctt
      721 ggtgatggta ctcctttttg cagtggacac aggactatat ttctctgtga agacaaacat
      781 tcgaagctca acaagagact ggaaggacca taaatttaaa tggagaaagg accctcaaga
      841 caaatgaccc ccatcccatg ggggtaataa gagcagtagc agcagcatct ctgaacattt
      901 ctctggattt gcaaccccat catcctcagg cctctctaca agcagcagga aacatagaac
      961 tcagagccag atcccttatc caactctcga cttttccttg gtctccagtg gaagggaaaa
     1021 gcccatgatc ttcaagcagg gaagccccag tgagtagctg cattcctaga aattgaagtt
     1081 tcagagctac acaaacactt tttctgtccc aaccgttccc tcacagcaaa gcaacaatac
     1141 aggctaggga tggtaatcct ttaaacatac aaaaattgct cgtgttataa attacccagt
     1201 ttagagggga aaaaaaaaca attattccta aataaatgga taagtagaat taatggttga
     1261 ggcaggacca tacagagtgt gggaactgct ggggatctag ggaattcagt gggaccaatg
     1321 aaagcatggc tgagaaatag caggtagtcc aggatagtct aagggaggtg ttcccatctg
     1381 agcccagaga taagggtgtc ttcctagaac attagccgta gtggaattaa caggaaatca
     1441 tgagggtgac gtagaattga gtcttccagg ggactctatc agaactggac catctccaag
     1501 tatataacga tgagtcctct taatgctagg agtagaaaat ggtcctagga aggggactga
     1561 ggattgcggt ggggggtggg gtggaaaaga aagtacagaa caaaccctgt gtcactgtcc
     1621 caagttgcta agtgaacaga actatctcag catcagaatg agaaagcctg agaagaaaga
     1681 accaaccaca agcacacagg aaggaaagcg caggaggtga aaatgctttc ttggccaggg
     1741 tagtaagaat tagaggttaa tgcagggact gtaaaaccac cttttctgct tcaatatcta
     1801 attcctgtgt agctttgttc attgcattta ttaaacaaat gttgtataac caatactaaa
     1861 tgtactactg agcttcgctg agttaagtta tgaaactttc aaatccttca tcatgtcagt
     1921 tccaatgagg tggggatgga gaagacaatt gttgcttatg aaagaaagct ttagctgtct
     1981 ctgttttgta agctttaagc gcaacatttc ttggttccaa taaagcattt tacaagatct
     2041 tgcatgctac tcttagatag aagatgggaa aaccatggta ataaaatatg aatgataaaa
//
LOCUS       NM_000572               1630 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens interleukin 10 (IL10), transcript variant 1, mRNA.
ACCESSION   NM_000572
VERSION     NM_000572.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1630)
  AUTHORS   Fan YX, Chen LR, Gan RX, Yin SJ, Wang P, Meng R, Huang YH, Jiang FF
            and He GH.
  TITLE     A meta-analysis of associations of IL-10 gene polymorphisms with
            acute leukemia susceptibility
  JOURNAL   Cytokine 170, 156312 (2023)
   PUBMED   37542945
  REMARK    GeneRIF: A meta-analysis of associations of IL-10 gene polymorphisms
            with acute leukemia susceptibility.
REFERENCE   2  (bases 1 to 1630)
  AUTHORS   Mei TTY, Aung HH, Tung WS and Naing C.
  TITLE     Association between IL-10 gene polymorphisms (- 1082 A/G, -819 T/C,
            -592 A/C) and hepatocellular carcinoma: a meta-analysis and trial
            sequential analysis
  JOURNAL   BMC Cancer 23 (1), 842 (2023)
   PUBMED   37684564
  REMARK    GeneRIF: Association between IL-10 gene polymorphisms (- 1082 A/G,
            -819 T/C, -592 A/C) and hepatocellular carcinoma: a meta-analysis
            and trial sequential analysis. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1630)
  AUTHORS   Weber B, Sturm R, Henrich D, Lupu L, Rottluff K, Marzi I and Leppik
            L.
  TITLE     Diagnostic and Prognostic Potential of Exosomal Cytokines IL-6 and
            IL-10 in Polytrauma Patients
  JOURNAL   Int J Mol Sci 24 (14), 11830 (2023)
   PUBMED   37511589
  REMARK    GeneRIF: Diagnostic and Prognostic Potential of Exosomal Cytokines
            IL-6 and IL-10 in Polytrauma Patients. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 1630)
  AUTHORS   Kang SY, Yoo JR, Park Y, Kim SH, Heo ST, Park SH, Kim M, Kim TJ, Oh
            S, Lee MS, Kim JM, Cho NH, Lee KM and Lee KH.
  TITLE     Fatal outcome of severe fever with thrombocytopenia syndrome (SFTS)
            and severe and critical COVID-19 is associated with the
            hyperproduction of IL-10 and IL-6 and the low production of TGF-beta
  JOURNAL   J Med Virol 95 (7), e28894 (2023)
   PUBMED   37386895
  REMARK    GeneRIF: Fatal outcome of severe fever with thrombocytopenia
            syndrome (SFTS) and severe and critical COVID-19 is associated with
            the hyperproduction of IL-10 and IL-6 and the low production of
            TGF-beta.
REFERENCE   5  (bases 1 to 1630)
  AUTHORS   Gesser B, Leffers H, Jinquan T, Vestergaard C, Kirstein N,
            Sindet-Pedersen S, Jensen SL, Thestrup-Pedersen K and Larsen CG.
  TITLE     Identification of functional domains on human interleukin 10
  JOURNAL   Proc Natl Acad Sci U S A 94 (26), 14620-14625 (1997)
   PUBMED   9405662
REFERENCE   6  (bases 1 to 1630)
  AUTHORS   Eskdale J, Kube D, Tesch H and Gallagher G.
  TITLE     Mapping of the human IL10 gene and further characterization of the
            5' flanking sequence
  JOURNAL   Immunogenetics 46 (2), 120-128 (1997)
   PUBMED   9162098
REFERENCE   7  (bases 1 to 1630)
  AUTHORS   Kim JM, Brannan CI, Copeland NG, Jenkins NA, Khan TA and Moore KW.
  TITLE     Structure of the mouse IL-10 gene and chromosomal localization of
            the mouse and human genes
  JOURNAL   J Immunol 148 (11), 3618-3623 (1992)
   PUBMED   1350294
REFERENCE   8  (bases 1 to 1630)
  AUTHORS   Rousset F, Garcia E, Defrance T, Peronne C, Vezzio N, Hsu DH,
            Kastelein R, Moore KW and Banchereau J.
  TITLE     Interleukin 10 is a potent growth and differentiation factor for
            activated human B lymphocytes
  JOURNAL   Proc Natl Acad Sci U S A 89 (5), 1890-1893 (1992)
   PUBMED   1371884
REFERENCE   9  (bases 1 to 1630)
  AUTHORS   Vieira P, de Waal-Malefyt R, Dang MN, Johnson KE, Kastelein R,
            Fiorentino DF, deVries JE, Roncarolo MG, Mosmann TR and Moore KW.
  TITLE     Isolation and expression of human cytokine synthesis inhibitory
            factor cDNA clones: homology to Epstein-Barr virus open reading
            frame BCRFI
  JOURNAL   Proc Natl Acad Sci U S A 88 (4), 1172-1176 (1991)
   PUBMED   1847510
REFERENCE   10  (bases 1 to 1630)
  AUTHORS   Ghosh,S., Conrad,J.R. and Klass,D.L.
  TITLE     Anaerobic acidogenesis of wastewater sludge
  JOURNAL   J Water Pollut Control Fed 47 (1), 30-45 (1975)
   PUBMED   1121048
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.113941.1,
            SRR1163655.71990.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in cytokine storm inflammatory
            response
            MANE Ensembl match          :: ENST00000423557.1/ ENSP00000412237.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC022315.1, M57627.1 and
            CD369014.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 31, 2018 this sequence version replaced NM_000572.2.
            Summary: The protein encoded by this gene is a cytokine produced
            primarily by monocytes and to a lesser extent by lymphocytes. This
            cytokine has pleiotropic effects in immunoregulation and
            inflammation. It down-regulates the expression of Th1 cytokines,
            MHC class II Ags, and costimulatory molecules on macrophages. It
            also enhances B cell survival, proliferation, and antibody
            production. This cytokine can block NF-kappa B activity, and is
            involved in the regulation of the JAK-STAT signaling pathway.
            Knockout studies in mice suggested the function of this cytokine as
            an essential immunoregulator in the intestinal tract. Mutations in
            this gene are associated with an increased susceptibility to HIV-1
            infection and rheumatoid arthritis. [provided by RefSeq, May 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1630
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..1630
                     /gene="IL10"
                     /gene_synonym="CSIF; GVHDS; IL-10; IL10A; TGIF"
                     /note="interleukin 10"
                     /db_xref="GeneID:3586"
                     /db_xref="HGNC:HGNC:5962"
                     /db_xref="MIM:124092"
     CDS             60..596
                     /gene="IL10"
                     /gene_synonym="CSIF; GVHDS; IL-10; IL10A; TGIF"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; T-cell growth inhibitory factor; cytokine synthesis
                     inhibitory factor"
                     /codon_start=1
                     /product="interleukin-10 isoform 1 precursor"
                     /protein_id="NP_000563.1"
                     /db_xref="CCDS:CCDS1467.1"
                     /db_xref="GeneID:3586"
                     /db_xref="HGNC:HGNC:5962"
                     /db_xref="MIM:124092"
                     /translation="MHSSALLCCLVLLTGVRASPGQGTQSENSCTHFPGNLPNMLRDLR
                     DAFSRVKTFFQMKDQLDNLLLKESLLEDFKGYLGCQALSEMIQFYLEEVMPQAENQDPD
                     IKAHVNSLGENLKTLRLRLRRCHRFLPCENKSKAVEQVKNAFNKLQEKGIYKAMSEFDI
                     FINYIEAYMTMKIRN"
     sig_peptide     60..113
                     /gene="IL10"
                     /gene_synonym="CSIF; GVHDS; IL-10; IL10A; TGIF"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     114..593
                     /gene="IL10"
                     /gene_synonym="CSIF; GVHDS; IL-10; IL10A; TGIF"
                     /product="Interleukin-10. /id=PRO_0000015360"
                     /note="propagated from UniProtKB/Swiss-Prot (P22301.1)"
     misc_feature    459..461
                     /gene="IL10"
                     /gene_synonym="CSIF; GVHDS; IL-10; IL10A; TGIF"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P22301.1); glycosylation site"
     regulatory      1607..1612
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL10"
                     /gene_synonym="CSIF; GVHDS; IL-10; IL10A; TGIF"
                     /note="hexamer: AATAAA"
     polyA_site      1630
                     /gene="IL10"
                     /gene_synonym="CSIF; GVHDS; IL-10; IL10A; TGIF"
                     /note="major polyA site"
ORIGIN
        1 acacatcagg ggcttgctct tgcaaaacca aaccacaaga cagacttgca aaagaaggca
       61 tgcacagctc agcactgctc tgttgcctgg tcctcctgac tggggtgagg gccagcccag
      121 gccagggcac ccagtctgag aacagctgca cccacttccc aggcaacctg cctaacatgc
      181 ttcgagatct ccgagatgcc ttcagcagag tgaagacttt ctttcaaatg aaggatcagc
      241 tggacaactt gttgttaaag gagtccttgc tggaggactt taagggttac ctgggttgcc
      301 aagccttgtc tgagatgatc cagttttacc tggaggaggt gatgccccaa gctgagaacc
      361 aagacccaga catcaaggcg catgtgaact ccctggggga gaacctgaag accctcaggc
      421 tgaggctacg gcgctgtcat cgatttcttc cctgtgaaaa caagagcaag gccgtggagc
      481 aggtgaagaa tgcctttaat aagctccaag agaaaggcat ctacaaagcc atgagtgagt
      541 ttgacatctt catcaactac atagaagcct acatgacaat gaagatacga aactgagaca
      601 tcagggtggc gactctatag actctaggac ataaattaga ggtctccaaa atcggatctg
      661 gggctctggg atagctgacc cagccccttg agaaacctta ttgtacctct cttatagaat
      721 atttattacc tctgatacct caacccccat ttctatttat ttactgagct tctctgtgaa
      781 cgatttagaa agaagcccaa tattataatt tttttcaata tttattattt tcacctgttt
      841 ttaagctgtt tccatagggt gacacactat ggtatttgag tgttttaaga taaattataa
      901 gttacataag ggaggaaaaa aaatgttctt tggggagcca acagaagctt ccattccaag
      961 cctgaccacg ctttctagct gttgagctgt tttccctgac ctccctctaa tttatcttgt
     1021 ctctgggctt ggggcttcct aactgctaca aatactctta ggaagagaaa ccagggagcc
     1081 cctttgatga ttaattcacc ttccagtgtc tcggagggat tcccctaacc tcattcccca
     1141 accacttcat tcttgaaagc tgtggccagc ttgttattta taacaaccta aatttggttc
     1201 taggccgggc gcggtggctc acgcctgtaa tcccagcact ttgggaggct gaggcgggtg
     1261 gatcacttga ggtcaggagt tcctaaccag cctggtcaac atggtgaaac cccgtctcta
     1321 ctaaaaatac aaaaattagc cgggcatggt ggcgcgcacc tgtaatccca gctacttggg
     1381 aggctgaggc aagagaattg cttgaaccca ggagatggaa gttgcagtga gctgatatca
     1441 tgcccctgta ctccagcctg ggtgacagag caagactctg tctcaaaaaa taaaaataaa
     1501 aataaatttg gttctaatag aactcagttt taactagaat ttattcaatt cctctgggaa
     1561 tgttacattg tttgtctgtc ttcatagcag attttaattt tgaataaata aatgtatctt
     1621 attcacatca
//
LOCUS       NM_000574               2590 bp    mRNA    linear   PRI 18-MAR-2023
DEFINITION  Homo sapiens CD55 molecule (Cromer blood group) (CD55), transcript
            variant 1, mRNA.
ACCESSION   NM_000574
VERSION     NM_000574.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2590)
  AUTHORS   Fan Y, Liao J, Wang Y, Wang Z, Zheng H and Wang Y.
  TITLE     miR-132-3p regulates antibody-mediated complement-dependent
            cytotoxicity in colon cancer cells by directly targeting CD55
  JOURNAL   Clin Exp Immunol 211 (1), 57-67 (2023)
   PUBMED   36571232
  REMARK    GeneRIF: miR-132-3p regulates antibody-mediated complement-dependent
            cytotoxicity in colon cancer cells by directly targeting CD55.
REFERENCE   2  (bases 1 to 2590)
  AUTHORS   Liu J, Fu N, Yang Z, Li A, Wu H, Jin Y, Song Q, Ji S, Xu H, Zhang Z
            and Zhang X.
  TITLE     The genetic and epigenetic regulation of CD55 and its pathway
            analysis in colon cancer
  JOURNAL   Front Immunol 13, 947136 (2023)
   PUBMED   36741376
  REMARK    GeneRIF: The genetic and epigenetic regulation of CD55 and its
            pathway analysis in colon cancer. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2590)
  AUTHORS   Kaneko K, Zaitoun AM, Letley DP, Rhead JL, Torres J, Spendlove I,
            Atherton JC and Robinson K.
  TITLE     The active form of Helicobacter pylori vacuolating cytotoxin induces
            decay-accelerating factor CD55 in association with intestinal
            metaplasia in the human gastric mucosa
  JOURNAL   J Pathol 258 (2), 199-209 (2022)
   PUBMED   35851954
  REMARK    GeneRIF: The active form of Helicobacter pylori vacuolating
            cytotoxin induces decay-accelerating factor CD55 in association with
            intestinal metaplasia in the human gastric mucosa.
REFERENCE   4  (bases 1 to 2590)
  AUTHORS   Osuka F, Endo Y, Higuchi M, Suzuki H, Shio Y, Fujiu K, Kanno R,
            Oishi A, Terashima M, Fujita T and Gotoh M.
  TITLE     Molecular cloning and characterization of novel splicing variants of
            human decay-accelerating factor
  JOURNAL   Genomics 88 (3), 316-322 (2006)
   PUBMED   16503113
REFERENCE   5  (bases 1 to 2590)
  AUTHORS   Shenoy-Scaria AM, Kwong J, Fujita T, Olszowy MW, Shaw AS and Lublin
            DM.
  TITLE     Signal transduction through decay-accelerating factor. Interaction
            of glycosyl-phosphatidylinositol anchor and protein tyrosine kinases
            p56lck and p59fyn 1
  JOURNAL   J Immunol 149 (11), 3535-3541 (1992)
   PUBMED   1385527
REFERENCE   6  (bases 1 to 2590)
  AUTHORS   Nakano Y, Sumida K, Kikuta N, Miura NH, Tobe T and Tomita M.
  TITLE     Complete determination of disulfide bonds localized within the short
            consensus repeat units of decay accelerating factor (CD55 antigen)
  JOURNAL   Biochim Biophys Acta 1116 (3), 235-240 (1992)
   PUBMED   1377029
REFERENCE   7  (bases 1 to 2590)
  AUTHORS   Holmes CH, Simpson KL, Okada H, Okada N, Wainwright SD, Purcell DF
            and Houlihan JM.
  TITLE     Complement regulatory proteins at the feto-maternal interface during
            human placental development: distribution of CD59 by comparison with
            membrane cofactor protein (CD46) and decay accelerating factor
            (CD55)
  JOURNAL   Eur J Immunol 22 (6), 1579-1585 (1992)
   PUBMED   1376264
REFERENCE   8  (bases 1 to 2590)
  AUTHORS   Ewulonu UK, Ravi L and Medof ME.
  TITLE     Characterization of the decay-accelerating factor gene promoter
            region
  JOURNAL   Proc Natl Acad Sci U S A 88 (11), 4675-4679 (1991)
   PUBMED   1711208
REFERENCE   9  (bases 1 to 2590)
  AUTHORS   Medof,M.E., Lublin,D.M., Holers,V.M., Ayers,D.J., Getty,R.R.,
            Leykam,J.F., Atkinson,J.P. and Tykocinski,M.L.
  TITLE     Cloning and characterization of cDNAs encoding the complete sequence
            of decay-accelerating factor of human complement
  JOURNAL   Proc Natl Acad Sci U S A 84 (7), 2007-2011 (1987)
   PUBMED   2436222
REFERENCE   10  (bases 1 to 2590)
  AUTHORS   Caras,I.W., Davitz,M.A., Rhee,L., Weddell,G., Martin,D.W. Jr. and
            Nussenzweig,V.
  TITLE     Cloning of decay-accelerating factor suggests novel use of splicing
            to generate two proteins
  JOURNAL   Nature 325 (6104), 545-549 (1987)
   PUBMED   2433596
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.29214.1,
            SRR5189658.132959.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367064.9/ ENSP00000356031.4
            RefSeq Select criteria      :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC386415.1, BC001288.1,
            M31516.1 and AW316643.1.
            On Jun 2, 2019 this sequence version replaced NM_000574.4.
            Summary: This gene encodes a glycoprotein involved in the
            regulation of the complement cascade. Binding of the encoded
            protein to complement proteins accelerates their decay, thereby
            disrupting the cascade and preventing damage to host cells.
            Antigens present on this protein constitute the Cromer blood group
            system (CROM). Alternative splicing results in multiple transcript
            variants. The predominant transcript variant encodes a
            membrane-bound protein, but alternatively spliced transcripts may
            produce soluble proteins. [provided by RefSeq, Jul 2014].
            Transcript Variant: This variant (1) encodes isoform 1 (also known
            as gDAF), which is membrane-associated.
            Sequence Note: This RefSeq record represents the CD55*001.1.1
            allele.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2590
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.2"
     gene            1..2590
                     /gene="CD55"
                     /gene_synonym="CHAPLE; CR; CROM; DAF; TC"
                     /note="CD55 molecule (Cromer blood group)"
                     /db_xref="GeneID:1604"
                     /db_xref="HGNC:HGNC:2665"
                     /db_xref="MIM:125240"
     misc_feature    7
                     /gene="CD55"
                     /gene_synonym="CHAPLE; CR; CROM; DAF; TC"
                     /note="transcription start site as determined in
                     PMID:1711208"
     CDS             89..1234
                     /gene="CD55"
                     /gene_synonym="CHAPLE; CR; CROM; DAF; TC"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; CD55 antigen; complement decay-accelerating
                     factor; Cromer blood group antigen; Rh blood group D
                     antigen; CD55 molecule, decay accelerating factor for
                     complement (Cromer blood group)"
                     /codon_start=1
                     /product="complement decay-accelerating factor isoform 1
                     preproprotein"
                     /protein_id="NP_000565.1"
                     /db_xref="CCDS:CCDS31006.1"
                     /db_xref="GeneID:1604"
                     /db_xref="HGNC:HGNC:2665"
                     /db_xref="MIM:125240"
                     /translation="MTVARPSVPAALPLLGELPRLLLLVLLCLPAVWGDCGLPPDVPNA
                     QPALEGRTSFPEDTVITYKCEESFVKIPGEKDSVICLKGSQWSDIEEFCNRSCEVPTRL
                     NSASLKQPYITQNYFPVGTVVEYECRPGYRREPSLSPKLTCLQNLKWSTAVEFCKKKSC
                     PNPGEIRNGQIDVPGGILFGATISFSCNTGYKLFGSTSSFCLISGSSVQWSDPLPECRE
                     IYCPAPPQIDNGIIQGERDHYGYRQSVTYACNKGFTMIGEHSIYCTVNNDEGEWSGPPP
                     ECRGKSLTSKVPPTVQKPTTVNVPTTEVSPTSQKTTTKTTTPNAQATRSTPVSRTTKHF
                     HETTPNKGSGTTSGTTRLLSGHTCFTLTGLLGTLVTMGLLT"
     sig_peptide     89..190
                     /gene="CD55"
                     /gene_synonym="CHAPLE; CR; CROM; DAF; TC"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     191..1147
                     /gene="CD55"
                     /gene_synonym="CHAPLE; CR; CROM; DAF; TC"
                     /product="Complement decay-accelerating factor.
                     /id=PRO_0000006000"
                     /note="propagated from UniProtKB/Swiss-Prot (P08174.4)"
     misc_feature    371..373
                     /gene="CD55"
                     /gene_synonym="CHAPLE; CR; CROM; DAF; TC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P08174.4); glycosylation site"
     misc_feature    917..1150
                     /gene="CD55"
                     /gene_synonym="CHAPLE; CR; CROM; DAF; TC"
                     /note="propagated from UniProtKB/Swiss-Prot (P08174.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1315..1320
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD55"
                     /gene_synonym="CHAPLE; CR; CROM; DAF; TC"
                     /note="hexamer: AATAAA"
     polyA_site      1337
                     /gene="CD55"
                     /gene_synonym="CHAPLE; CR; CROM; DAF; TC"
                     /note="major polyA site"
     regulatory      2103..2108
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD55"
                     /gene_synonym="CHAPLE; CR; CROM; DAF; TC"
                     /note="hexamer: AATAAA"
     polyA_site      2126
                     /gene="CD55"
                     /gene_synonym="CHAPLE; CR; CROM; DAF; TC"
                     /note="major polyA site"
     regulatory      2567..2572
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD55"
                     /gene_synonym="CHAPLE; CR; CROM; DAF; TC"
                     /note="hexamer: AATAAA"
     polyA_site      2590
                     /gene="CD55"
                     /gene_synonym="CHAPLE; CR; CROM; DAF; TC"
ORIGIN
        1 ctgcttactg caactcgctc cggccgctgg gcgtagctgc gactcggcgg agtcccggcg
       61 gcgcgtcctt gttctaaccc ggcgcgccat gaccgtcgcg cggccgagcg tgcccgcggc
      121 gctgcccctc ctcggggagc tgccccggct gctgctgctg gtgctgttgt gcctgccggc
      181 cgtgtggggt gactgtggcc ttcccccaga tgtacctaat gcccagccag ctttggaagg
      241 ccgtacaagt tttcccgagg atactgtaat aacgtacaaa tgtgaagaaa gctttgtgaa
      301 aattcctggc gagaaggact cagtgatctg ccttaagggc agtcaatggt cagatattga
      361 agagttctgc aatcgtagct gcgaggtgcc aacaaggcta aattctgcat ccctcaaaca
      421 gccttatatc actcagaatt attttccagt cggtactgtt gtggaatatg agtgccgtcc
      481 aggttacaga agagaacctt ctctatcacc aaaactaact tgccttcaga atttaaaatg
      541 gtccacagca gtcgaatttt gtaaaaagaa atcatgccct aatccgggag aaatacgaaa
      601 tggtcagatt gatgtaccag gtggcatatt atttggtgca accatctcct tctcatgtaa
      661 cacagggtac aaattatttg gctcgacttc tagtttttgt cttatttcag gcagctctgt
      721 ccagtggagt gacccgttgc cagagtgcag agaaatttat tgtccagcac caccacaaat
      781 tgacaatgga ataattcaag gggaacgtga ccattatgga tatagacagt ctgtaacgta
      841 tgcatgtaat aaaggattca ccatgattgg agagcactct atttattgta ctgtgaataa
      901 tgatgaagga gagtggagtg gcccaccacc tgaatgcaga ggaaaatctc taacttccaa
      961 ggtcccacca acagttcaga aacctaccac agtaaatgtt ccaactacag aagtctcacc
     1021 aacttctcag aaaaccacca caaaaaccac cacaccaaat gctcaagcaa cacggagtac
     1081 acctgtttcc aggacaacca agcattttca tgaaacaacc ccaaataaag gaagtggaac
     1141 cacttcaggt actacccgtc ttctatctgg gcacacgtgt ttcacgttga caggtttgct
     1201 tgggacgcta gtaaccatgg gcttgctgac ttagccaaag aagagttaag aagaaaatac
     1261 acacaagtat acagactgtt cctagtttct tagacttatc tgcatattgg ataaaataaa
     1321 tgcaattgtg ctcttcattt aggatgcttt cattgtcttt aagatgtgtt aggaatgtca
     1381 acagagcaag gagaaaaaag gcagtcctgg aatcacattc ttagcacacc tacacctctt
     1441 gaaaatagaa caacttgcag aattgagagt gattcctttc ctaaaagtgt aagaaagcat
     1501 agagatttgt tcgtatttag aatgggatca cgaggaaaag agaaggaaag tgattttttt
     1561 ccacaagatc tgtaatgtta tttccactta taaaggaaat aaaaaatgaa aaacattatt
     1621 tggatatcaa aagcaaataa aaacccaatt cagtctcttc taagcaaaat tgctaaagag
     1681 agatgaacca cattataaag taatctttgg ctgtaaggca ttttcatctt tccttcgggt
     1741 tggcaaaata ttttaaaggt aaaacatgct ggtgaaccag gggtgttgat ggtgataagg
     1801 gaggaatata gaatgaaaga ctgaatcttc ctttgttgca caaatagagt ttggaaaaag
     1861 cctgtgaaag gtgtcttctt tgacttaatg tctttaaaag tatccagaga tactacaata
     1921 ttaacataag aaaagattat atattatttc tgaatcgaga tgtccatagt caaatttgta
     1981 aatcttattc ttttgtaata tttatttata tttatttatg acagtgaaca ttctgatttt
     2041 acatgtaaaa caagaaaagt tgaagaagat atgtgaagaa aaatgtattt ttcctaaata
     2101 gaaataaatg atcccatttt ttggtatcat gtagtatgtg aaatttattc ttaaacgtga
     2161 ctactttatt tctaaataag aaattcccta cctgcttcct acaagcagtt cagaatgcca
     2221 tgccttggtt gtcctagtgt gaataatttt cagctacttt aaaattatat tgtactttct
     2281 caagcatgtc atatcctttc ctattagagt atctatatta cttgttactg atttacctga
     2341 aggcaatctg attaatttct aggtttttac catattcttg tcatcttgcc aattacattt
     2401 taagtgttag actagactaa gatgtactag ttgtatagaa tataactaga tttattatgg
     2461 caatgtttat tttgtcattt tgcttcatct gttttgttgt tgaagtactt taaatttcat
     2521 acgttcatgg catttcactg taaagacttt aatgtgtatt tcttaaaata aaactttttt
     2581 tcctccttaa
//
LOCUS       NM_000575               2017 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens interleukin 1 alpha (IL1A), transcript variant 1, mRNA.
ACCESSION   NM_000575
VERSION     NM_000575.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2017)
  AUTHORS   Wen Z, Liu Q, Jiang P, Zhu C, Li J, Wu J, Wang S and Ning B.
  TITLE     Serum interleukin-1 is a new biomarker to predict the risk of
            rebleeding of ruptured intracranial aneurysm after admission
  JOURNAL   Neurosurg Rev 46 (1), 123 (2023)
   PUBMED   37195327
  REMARK    GeneRIF: Serum interleukin-1 is a new biomarker to predict the risk
            of rebleeding of ruptured intracranial aneurysm after admission.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2017)
  AUTHORS   Nieradko-Iwanicka B, Przybylska D and Borzecki A.
  TITLE     Interleukin 1alpha and interleukin 18 in patients with vitiligo -
            Results of a case-control study
  JOURNAL   Biomed Pharmacother 160, 114364 (2023)
   PUBMED   36739764
  REMARK    GeneRIF: Interleukin 1alpha and interleukin 18 in patients with
            vitiligo - Results of a case-control study.
REFERENCE   3  (bases 1 to 2017)
  AUTHORS   Martin-Nares E, Hernandez-Molina G, Lima G, Hernandez-Ramirez DF,
            Chan-Campos I, Saavedra-Gonzalez V and Llorente L.
  TITLE     Tear levels of IL-7, IL-1alpha, and IL-1beta may differentiate
            between IgG4-related disease and Sjogren's syndrome
  JOURNAL   Clin Rheumatol 42 (4), 1101-1105 (2023)
   PUBMED   36627528
  REMARK    GeneRIF: Tear levels of IL-7, IL-1alpha, and IL-1beta may
            differentiate between IgG4-related disease and Sjogren's syndrome.
REFERENCE   4  (bases 1 to 2017)
  AUTHORS   Pereira EEB, Modesto AAC, Fernandes BM, Burbano RMR, Assumpcao PP,
            Fernandes MR, Guerreiro JF, Santos SEBD and Santos NPCD.
  TITLE     Association between Polymorphism of Genes IL-1A, NFKB1, PAR1, TP53,
            and UCP2 and Susceptibility to Non-Small Cell Lung Cancer in the
            Brazilian Amazon
  JOURNAL   Genes (Basel) 14 (2), 461 (2023)
   PUBMED   36833388
  REMARK    GeneRIF: Association between Polymorphism of Genes IL-1A, NFKB1,
            PAR1, TP53, and UCP2 and Susceptibility to Non-Small Cell Lung
            Cancer in the Brazilian Amazon. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2017)
  AUTHORS   Llibre A, Smith N, Rouilly V, Musvosvi M, Nemes E, Posseme C, Mabwe
            S, Charbit B, Mbandi SK, Filander E, Africa H, Saint-Andre V, Bondet
            V, Bost P, Mulenga H, Bilek N, Albert ML, Scriba TJ and Duffy D.
  TITLE     Tuberculosis alters immune-metabolic pathways resulting in perturbed
            IL-1 responses
  JOURNAL   Front Immunol 13, 897193 (2022)
   PUBMED   36591308
  REMARK    GeneRIF: Tuberculosis alters immune-metabolic pathways resulting in
            perturbed IL-1 responses. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2017)
  AUTHORS   van de Veerdonk FL and Netea MG.
  TITLE     Blocking IL-1 to prevent respiratory failure in COVID-19
  JOURNAL   Crit Care 24 (1), 445 (2020)
   PUBMED   32682440
  REMARK    Review article Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2017)
  AUTHORS   Kumar S, Millis AJ and Baglioni C.
  TITLE     Expression of interleukin 1-inducible genes and production of
            interleukin 1 by aging human fibroblasts
  JOURNAL   Proc Natl Acad Sci U S A 89 (10), 4683-4687 (1992)
   PUBMED   1584804
REFERENCE   8  (bases 1 to 2017)
  AUTHORS   Clinton SK, Underwood R, Hayes L, Sherman ML, Kufe DW and Libby P.
  TITLE     Macrophage colony-stimulating factor gene expression in vascular
            cells and in experimental and human atherosclerosis
  JOURNAL   Am J Pathol 140 (2), 301-316 (1992)
   PUBMED   1739124
REFERENCE   9  (bases 1 to 2017)
  AUTHORS   Hogquist KA, Nett MA, Unanue ER and Chaplin DD.
  TITLE     Interleukin 1 is processed and released during apoptosis
  JOURNAL   Proc Natl Acad Sci U S A 88 (19), 8485-8489 (1991)
   PUBMED   1924307
REFERENCE   10  (bases 1 to 2017)
  AUTHORS   Ishikura H, Takahashi C, Kanagawa K, Hirata H, Imai K and Yoshiki T.
  TITLE     Cytokine regulation of ICAM-1 expression on human renal tubular
            epithelial cells in vitro
  JOURNAL   Transplantation 51 (6), 1272-1275 (1991)
   PUBMED   1675504
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X02851.1, BC035169.2 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in cytokine storm inflammatory
            response
            MANE Ensembl match          :: ENST00000263339.4/ ENSP00000263339.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC112235.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 18, 2019 this sequence version replaced NM_000575.4.
            Summary: The protein encoded by this gene is a member of the
            interleukin 1 cytokine family. This cytokine is a pleiotropic
            cytokine involved in various immune responses, inflammatory
            processes, and hematopoiesis. This cytokine is produced by
            monocytes and macrophages as a proprotein, which is proteolytically
            processed and released in response to cell injury, and thus induces
            apoptosis. This gene and eight other interleukin 1 family genes
            form a cytokine gene cluster on chromosome 2. It has been suggested
            that the polymorphism of these genes is associated with rheumatoid
            arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2017
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.1"
     gene            1..2017
                     /gene="IL1A"
                     /gene_synonym="IL-1 alpha; IL-1A; IL1; IL1-ALPHA; IL1F1"
                     /note="interleukin 1 alpha"
                     /db_xref="GeneID:3552"
                     /db_xref="HGNC:HGNC:5991"
                     /db_xref="MIM:147760"
     misc_feature    39..41
                     /gene="IL1A"
                     /gene_synonym="IL-1 alpha; IL-1A; IL1; IL1-ALPHA; IL1F1"
                     /note="upstream in-frame stop codon"
     CDS             60..875
                     /gene="IL1A"
                     /gene_synonym="IL-1 alpha; IL-1A; IL1; IL1-ALPHA; IL1F1"
                     /note="preinterleukin 1 alpha; hematopoietin-1;
                     pro-interleukin-1-alpha"
                     /codon_start=1
                     /product="interleukin-1 alpha precursor"
                     /protein_id="NP_000566.3"
                     /db_xref="CCDS:CCDS2101.1"
                     /db_xref="GeneID:3552"
                     /db_xref="HGNC:HGNC:5991"
                     /db_xref="MIM:147760"
                     /translation="MAKVPDMFEDLKNCYSENEEDSSSIDHLSLNQKSFYHVSYGPLHE
                     GCMDQSVSLSISETSKTSKLTFKESMVVVATNGKVLKKRRLSLSQSITDDDLEAIANDS
                     EEEIIKPRSAPFSFLSNVKYNFMRIIKYEFILNDALNQSIIRANDQYLTAAALHNLDEA
                     VKFDMGAYKSSKDDAKITVILRISKTQLYVTAQDEDQPVLLKEMPEIPKTITGSETNLL
                     FFWETHGTKNYFTSVAHPNLFIATKQDYWVCLAGGPPSITDFQILENQA"
     misc_feature    303..317
                     /gene="IL1A"
                     /gene_synonym="IL-1 alpha; IL-1A; IL1; IL1-ALPHA; IL1F1"
                     /note="propagated from UniProtKB/Swiss-Prot (P01583.1);
                     Region: Nuclear localization signal (NLS).
                     /evidence=ECO:0000269|PubMed:26439902"
     misc_feature    303..305
                     /gene="IL1A"
                     /gene_synonym="IL-1 alpha; IL-1A; IL1; IL1-ALPHA; IL1F1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000269|PubMed:26439902; propagated from
                     UniProtKB/Swiss-Prot (P01583.1); acetylation site"
     misc_feature    318..320
                     /gene="IL1A"
                     /gene_synonym="IL-1 alpha; IL-1A; IL1; IL1-ALPHA; IL1F1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P01582; propagated from
                     UniProtKB/Swiss-Prot (P01583.1); phosphorylation site"
     misc_feature    363..365
                     /gene="IL1A"
                     /gene_synonym="IL-1 alpha; IL-1A; IL1; IL1-ALPHA; IL1F1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P01583.1); glycosylation site"
     mat_peptide     396..872
                     /gene="IL1A"
                     /gene_synonym="IL-1 alpha; IL-1A; IL1; IL1-ALPHA; IL1F1"
                     /product="Interleukin-1 alpha. /id=PRO_0000015266"
                     /note="propagated from UniProtKB/Swiss-Prot (P01583.1)"
     misc_feature    480..482
                     /gene="IL1A"
                     /gene_synonym="IL-1 alpha; IL-1A; IL1; IL1-ALPHA; IL1F1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P01583.1); glycosylation site"
     regulatory      1999..2004
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL1A"
                     /gene_synonym="IL-1 alpha; IL-1A; IL1; IL1-ALPHA; IL1F1"
                     /note="hexamer: AATAAA"
     polyA_site      2017
                     /gene="IL1A"
                     /gene_synonym="IL-1 alpha; IL-1A; IL1; IL1-ALPHA; IL1F1"
                     /note="major polyA site"
ORIGIN
        1 aagctgccag ccagagaggg agtcatttca ttggcgtttg agtcagcaaa gaagtcaaga
       61 tggccaaagt tccagacatg tttgaagacc tgaagaactg ttacagtgaa aatgaagaag
      121 acagttcctc cattgatcat ctgtctctga atcagaaatc cttctatcat gtaagctatg
      181 gcccactcca tgaaggctgc atggatcaat ctgtgtctct gagtatctct gaaacctcta
      241 aaacatccaa gcttaccttc aaggagagca tggtggtagt agcaaccaac gggaaggttc
      301 tgaagaagag acggttgagt ttaagccaat ccatcactga tgatgacctg gaggccatcg
      361 ccaatgactc agaggaagaa atcatcaagc ctaggtcagc accttttagc ttcctgagca
      421 atgtgaaata caactttatg aggatcatca aatacgaatt catcctgaat gacgccctca
      481 atcaaagtat aattcgagcc aatgatcagt acctcacggc tgctgcatta cataatctgg
      541 atgaagcagt gaaatttgac atgggtgctt ataagtcatc aaaggatgat gctaaaatta
      601 ccgtgattct aagaatctca aaaactcaat tgtatgtgac tgcccaagat gaagaccaac
      661 cagtgctgct gaaggagatg cctgagatac ccaaaaccat cacaggtagt gagaccaacc
      721 tcctcttctt ctgggaaact cacggcacta agaactattt cacatcagtt gcccatccaa
      781 acttgtttat tgccacaaag caagactact gggtgtgctt ggcagggggg ccaccctcta
      841 tcactgactt tcagatactg gaaaaccagg cgtaggtctg gagtctcact tgtctcactt
      901 gtgcagtgtt gacagttcat atgtaccatg tacatgaaga agctaaatcc tttactgtta
      961 gtcatttgct gagcatgtac tgagccttgt aattctaaat gaatgtttac actctttgta
     1021 agagtggaac caacactaac atataatgtt gttatttaaa gaacacccta tattttgcat
     1081 agtaccaatc attttaatta ttattcttca taacaatttt aggaggacca gagctactga
     1141 ctatggctac caaaaagact ctacccatat tacagatggg caaattaagg cataagaaaa
     1201 ctaagaaata tgcacaatag cagttgaaac aagaagccac agacctagga tttcatgatt
     1261 tcatttcaac tgtttgcctt ctacttttaa gttgctgatg aactcttaat caaatagcat
     1321 aagtttctgg gacctcagtt ttatcatttt caaaatggag ggaataatac ctaagccttc
     1381 ctgccgcaac agttttttat gctaatcagg gaggtcattt tggtaaaata cttcttgaag
     1441 ccgagcctca agatgaaggc aaagcacgaa atgttatttt ttaattatta tttatatatg
     1501 tatttataaa tatatttaag ataattataa tatactatat ttatgggaac cccttcatcc
     1561 tctgagtgtg accaggcatc ctccacaata gcagacagtg ttttctggga taagtaagtt
     1621 tgatttcatt aatacagggc attttggtcc aagttgtgct tatcccatag ccaggaaact
     1681 ctgcattcta gtacttggga gacctgtaat catataataa atgtacatta attaccttga
     1741 gccagtaatt ggtccgatct ttgactcttt tgccattaaa cttacctggg cattcttgtt
     1801 tcaattccac ctgcaatcaa gtcctacaag ctaaaattag atgaactcaa ctttgacaac
     1861 catgagacca ctgttatcaa aactttcttt tctggaatgt aatcaatgtt tcttctaggt
     1921 tctaaaaatt gtgatcagac cataatgtta cattattatc aacaatagtg attgatagag
     1981 tgttatcagt cataactaaa taaagcttgc aacaaaa
//
LOCUS       NM_000576               1507 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens interleukin 1 beta (IL1B), mRNA.
ACCESSION   NM_000576
VERSION     NM_000576.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1507)
  AUTHORS   Yakar N, Emingil G, Turedi A, Sahin C, Kose T, Bostanci N and
            Silbereisen A.
  TITLE     Value of gingival crevicular fluid TREM-1, PGLYRP1, and IL-1beta
            levels during menopause
  JOURNAL   J Periodontal Res 58 (5), 1052-1060 (2023)
   PUBMED   37529985
  REMARK    GeneRIF: Value of gingival crevicular fluid TREM-1, PGLYRP1, and
            IL-1beta levels during menopause.
REFERENCE   2  (bases 1 to 1507)
  AUTHORS   Lucke J, Heinrich F, Malsy J, Meins N, Schnell J, Bottcher M,
            Nawrocki M, Zhang T, Bertram F, Sabihi M, Kempski J, Blankenburg T,
            Dupree A, Reeh M, Wolter S, Mann O, Izbicki JR, Lohse AW, Gagliani
            N, Lutgehetmann M, Bunders MJ, Altfeld M, Sauter G, Giannou AD,
            Krasemann S, Ondruschka B and Huber S.
  TITLE     Intestinal IL-1beta Plays a Role in Protecting against SARS-CoV-2
            Infection
  JOURNAL   J Immunol 211 (6), 1052-1061 (2023)
   PUBMED   37556130
  REMARK    GeneRIF: Intestinal IL-1beta Plays a Role in Protecting against
            SARS-CoV-2 Infection.
REFERENCE   3  (bases 1 to 1507)
  AUTHORS   Kwon MJ, Kim JH, Kim KJ, Ko EJ, Lee JY, Ryu CS, Ha YH, Kim YR and
            Kim NK.
  TITLE     Genetic Association between Inflammatory-Related Polymorphism in
            STAT3, IL-1beta, IL-6, TNF-alpha and Idiopathic Recurrent
            Implantation Failure
  JOURNAL   Genes (Basel) 14 (8), 1588 (2023)
   PUBMED   37628639
  REMARK    GeneRIF: Genetic Association between Inflammatory-Related
            Polymorphism in STAT3, IL-1beta, IL-6, TNF-alpha and Idiopathic
            Recurrent Implantation Failure. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1507)
  AUTHORS   Castillo DR, Jeon WJ, Park D, Pham B, Yang C, Joung B, Moon JH, Lee
            J, Chong EG, Park K, Reeves ME, Duerksen-Hughes P, Mirshahidi HR and
            Mirshahidi S.
  TITLE     Comprehensive Review: Unveiling the Pro-Oncogenic Roles of IL-1ss
            and PD-1/PD-L1 in NSCLC Development and Targeting Their Pathways for
            Clinical Management
  JOURNAL   Int J Mol Sci 24 (14), 11547 (2023)
   PUBMED   37511306
  REMARK    GeneRIF: Comprehensive Review: Unveiling the Pro-Oncogenic Roles of
            IL-1ss and PD-1/PD-L1 in NSCLC Development and Targeting Their
            Pathways for Clinical Management. Review article Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 1507)
  AUTHORS   Ishitoku M, Mokuda S, Araki K, Watanabe H, Kohno H, Sugimoto T,
            Yoshida Y, Sakaguchi T, Masumoto J, Hirata S and Sugiyama E.
  TITLE     Tumor Necrosis Factor and Interleukin-1beta Upregulate NRP2
            Expression and Promote SARS-CoV-2 Proliferation
  JOURNAL   Viruses 15 (7), 1498 (2023)
   PUBMED   37515185
  REMARK    GeneRIF: Tumor Necrosis Factor and Interleukin-1beta Upregulate NRP2
            Expression and Promote SARS-CoV-2 Proliferation. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 1507)
  AUTHORS   Nanduri VB, Hulmes JD, Pan YC, Kilian PL and Stern AS.
  TITLE     The role of arginine residues in interleukin 1 receptor binding
  JOURNAL   Biochim Biophys Acta 1118 (1), 25-35 (1991)
   PUBMED   1837236
REFERENCE   7  (bases 1 to 1507)
  AUTHORS   Grenfell S, Smithers N, Witham S, Shaw A, Graber P and Solari R.
  TITLE     Analysis of mutations in the putative nuclear localization sequence
            of interleukin-1 beta
  JOURNAL   Biochem J 280 (Pt 1) (Pt 1), 111-116 (1991)
   PUBMED   1835838
REFERENCE   8  (bases 1 to 1507)
  AUTHORS   Howard AD, Kostura MJ, Thornberry N, Ding GJ, Limjuco G, Weidner J,
            Salley JP, Hogquist KA, Chaplin DD, Mumford RA et al.
  TITLE     IL-1-converting enzyme requires aspartic acid residues for
            processing of the IL-1 beta precursor at two distinct sites and does
            not cleave 31-kDa IL-1 alpha
  JOURNAL   J Immunol 147 (9), 2964-2969 (1991)
   PUBMED   1919001
REFERENCE   9  (bases 1 to 1507)
  AUTHORS   Chistiakov,D.A., Arsenian,S.G., Braga,E.A., Lapidus,A.D.,
            Kozlov,Iu.I., Mashko,S.V., Nosikov,V.V., Sverdlov,E.D. and
            Debabov,V.G.
  TITLE     [Elimination of introns from the interleukin 1 beta genome by DNA
            amplification and expression of interleukin 1 beta in Escherichia
            coli]
  JOURNAL   Mol Biol (Mosk) 25 (5), 1273-1284 (1991)
   PUBMED   1753956
REFERENCE   10  (bases 1 to 1507)
  AUTHORS   Merrill JE.
  TITLE     Effects of interleukin-1 and tumor necrosis factor-alpha on
            astrocytes, microglia, oligodendrocytes, and glial precursors in
            vitro
  JOURNAL   Dev Neurosci 13 (3), 130-137 (1991)
   PUBMED   1752215
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.109183.1,
            SRR5189652.136888.1 [ECO:0000332]
            RNAseq introns :: mixed/partial sample support SAMEA1965299,
            SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in cytokine storm inflammatory
            response
            MANE Ensembl match          :: ENST00000263341.7/ ENSP00000263341.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079753.7.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000576.2.
            Summary: The protein encoded by this gene is a member of the
            interleukin 1 cytokine family. This cytokine is produced by
            activated macrophages as a proprotein, which is proteolytically
            processed to its active form by caspase 1 (CASP1/ICE). This
            cytokine is an important mediator of the inflammatory response, and
            is involved in a variety of cellular activities, including cell
            proliferation, differentiation, and apoptosis. The induction of
            cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central
            nervous system (CNS) is found to contribute to inflammatory pain
            hypersensitivity. Similarly, IL-1B has been implicated in human
            osteoarthritis pathogenesis. Patients with severe Coronavirus
            Disease 2019 (COVID-19) present elevated levels of pro-inflammatory
            cytokines such as IL-1B in bronchial alveolar lavage fluid samples.
            The lung damage induced by the Severe acute respiratory syndrome
            coronavirus 2 (SARS-CoV-2) is to a large extent, a result of the
            inflammatory response promoted by cytokines such as IL-1B. This
            gene and eight other interleukin 1 family genes form a cytokine
            gene cluster on chromosome 2. [provided by RefSeq, Jul 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1507
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.1"
     gene            1..1507
                     /gene="IL1B"
                     /gene_synonym="IL-1; IL1-BETA; IL1beta; IL1F2"
                     /note="interleukin 1 beta"
                     /db_xref="GeneID:3553"
                     /db_xref="HGNC:HGNC:5992"
                     /db_xref="MIM:147720"
     CDS             88..897
                     /gene="IL1B"
                     /gene_synonym="IL-1; IL1-BETA; IL1beta; IL1F2"
                     /note="preinterleukin 1 beta; interleukin 1beta; catabolin;
                     pro-interleukin-1-beta; IL-1 beta"
                     /codon_start=1
                     /product="interleukin-1 beta proprotein"
                     /protein_id="NP_000567.1"
                     /db_xref="CCDS:CCDS2102.1"
                     /db_xref="GeneID:3553"
                     /db_xref="HGNC:HGNC:5992"
                     /db_xref="MIM:147720"
                     /translation="MAEVPELASEMMAYYSGNEDDLFFEADGPKQMKCSFQDLDLCPLD
                     GGIQLRISDHHYSKGFRQAASVVVAMDKLRKMLVPCPQTFQENDLSTFFPFIFEEEPIF
                     FDTWDNEAYVHDAPVRSLNCTLRDSQQKSLVMSGPYELKALHLQGQDMEQQVVFSMSFV
                     QGEESNDKIPVALGLKEKNLYLSCVLKDDKPTLQLESVDPKNYPKKKMEKRFVFNKIEI
                     NNKLEFESAQFPNWYISTSQAENMPVFLGGTKGGQDITDFTMQFVSS"
     misc_feature    400..405
                     /gene="IL1B"
                     /gene_synonym="IL-1; IL1-BETA; IL1beta; IL1F2"
                     /note="(Microbial infection) Cleavage, S.pyogenes SpeB.
                     /evidence=ECO:0000269|PubMed:28331908; propagated from
                     UniProtKB/Swiss-Prot (P01584.2); other site"
     misc_feature    430..435
                     /gene="IL1B"
                     /gene_synonym="IL-1; IL1-BETA; IL1beta; IL1F2"
                     /note="(Microbial infection) Cleavage, S.pyogenes SpeB.
                     /evidence=ECO:0000269|PubMed:7689226; propagated from
                     UniProtKB/Swiss-Prot (P01584.2); other site"
     mat_peptide     436..894
                     /gene="IL1B"
                     /gene_synonym="IL-1; IL1-BETA; IL1beta; IL1F2"
                     /product="interleukin-1 beta"
     misc_feature    445..447
                     /gene="IL1B"
                     /gene_synonym="IL-1; IL1-BETA; IL1beta; IL1F2"
                     /note="Involved in receptor binding; propagated from
                     UniProtKB/Swiss-Prot (P01584.2); other site"
     misc_feature    598..600
                     /gene="IL1B"
                     /gene_synonym="IL-1; IL1-BETA; IL1beta; IL1F2"
                     /note="Important for interaction with integrin.
                     /evidence=ECO:0000269|PubMed:29030430; propagated from
                     UniProtKB/Swiss-Prot (P01584.2); other site"
     misc_feature    622..624
                     /gene="IL1B"
                     /gene_synonym="IL-1; IL1-BETA; IL1beta; IL1F2"
                     /note="Important for interaction with integrin.
                     /evidence=ECO:0000269|PubMed:29030430; propagated from
                     UniProtKB/Swiss-Prot (P01584.2); other site"
     misc_feature    628..630
                     /gene="IL1B"
                     /gene_synonym="IL-1; IL1-BETA; IL1beta; IL1F2"
                     /note="Important for interaction with integrin.
                     /evidence=ECO:0000269|PubMed:29030430; propagated from
                     UniProtKB/Swiss-Prot (P01584.2); other site"
     misc_feature    655..657
                     /gene="IL1B"
                     /gene_synonym="IL-1; IL1-BETA; IL1beta; IL1F2"
                     /note="Important for interaction with integrin.
                     /evidence=ECO:0000269|PubMed:29030430; propagated from
                     UniProtKB/Swiss-Prot (P01584.2); other site"
     misc_feature    697..699
                     /gene="IL1B"
                     /gene_synonym="IL-1; IL1-BETA; IL1beta; IL1F2"
                     /note="Important for interaction with integrin.
                     /evidence=ECO:0000269|PubMed:29030430; propagated from
                     UniProtKB/Swiss-Prot (P01584.2); other site"
     misc_feature    769..810
                     /gene="IL1B"
                     /gene_synonym="IL-1; IL1-BETA; IL1beta; IL1F2"
                     /note="propagated from UniProtKB/Swiss-Prot (P01584.2);
                     Region: Involved in interaction with TMED10 C-terminus.
                     /evidence=ECO:0000269|PubMed:32272059"
ORIGIN
        1 accaaacctc ttcgaggcac aaggcacaac aggctgctct gggattctct tcagccaatc
       61 ttcattgctc aagtgtctga agcagccatg gcagaagtac ctgagctcgc cagtgaaatg
      121 atggcttatt acagtggcaa tgaggatgac ttgttctttg aagctgatgg ccctaaacag
      181 atgaagtgct ccttccagga cctggacctc tgccctctgg atggcggcat ccagctacga
      241 atctccgacc accactacag caagggcttc aggcaggccg cgtcagttgt tgtggccatg
      301 gacaagctga ggaagatgct ggttccctgc ccacagacct tccaggagaa tgacctgagc
      361 accttctttc ccttcatctt tgaagaagaa cctatcttct tcgacacatg ggataacgag
      421 gcttatgtgc acgatgcacc tgtacgatca ctgaactgca cgctccggga ctcacagcaa
      481 aaaagcttgg tgatgtctgg tccatatgaa ctgaaagctc tccacctcca gggacaggat
      541 atggagcaac aagtggtgtt ctccatgtcc tttgtacaag gagaagaaag taatgacaaa
      601 atacctgtgg ccttgggcct caaggaaaag aatctgtacc tgtcctgcgt gttgaaagat
      661 gataagccca ctctacagct ggagagtgta gatcccaaaa attacccaaa gaagaagatg
      721 gaaaagcgat ttgtcttcaa caagatagaa atcaataaca agctggaatt tgagtctgcc
      781 cagttcccca actggtacat cagcacctct caagcagaaa acatgcccgt cttcctggga
      841 gggaccaaag gcggccagga tataactgac ttcaccatgc aatttgtgtc ttcctaaaga
      901 gagctgtacc cagagagtcc tgtgctgaat gtggactcaa tccctagggc tggcagaaag
      961 ggaacagaaa ggtttttgag tacggctata gcctggactt tcctgttgtc tacaccaatg
     1021 cccaactgcc tgccttaggg tagtgctaag aggatctcct gtccatcagc caggacagtc
     1081 agctctctcc tttcagggcc aatccccagc ccttttgttg agccaggcct ctctcacctc
     1141 tcctactcac ttaaagcccg cctgacagaa accacggcca catttggttc taagaaaccc
     1201 tctgtcattc gctcccacat tctgatgagc aaccgcttcc ctatttattt atttatttgt
     1261 ttgtttgttt tattcattgg tctaatttat tcaaaggggg caagaagtag cagtgtctgt
     1321 aaaagagcct agtttttaat agctatggaa tcaattcaat ttggactggt gtgctctctt
     1381 taaatcaagt cctttaatta agactgaaaa tatataagct cagattattt aaatgggaat
     1441 atttataaat gagcaaatat catactgttc aatggttctg aaataaactt cactgaagaa
     1501 aaaaaaa
//
LOCUS       NM_000578               3608 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens solute carrier family 11 member 1 (SLC11A1), mRNA.
ACCESSION   NM_000578
VERSION     NM_000578.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3608)
  AUTHORS   Waworuntu W, Tanoerahardjo FS, Mallongi A, Ahmad A, Amin M,
            Djaharuddin I, Bukhari A, Tabri NA, Bahar B, Hidayah N, Halik H and
            Massi MN.
  TITLE     Serum iron levels in tuberculosis patients and household contacts
            and its association with natural resistance-associated macrophage
            protein 1 polymorphism and expression
  JOURNAL   Clin Respir J 17 (9), 893-904 (2023)
   PUBMED   37607533
  REMARK    GeneRIF: Serum iron levels in tuberculosis patients and household
            contacts and its association with natural resistance-associated
            macrophage protein 1 polymorphism and expression.
REFERENCE   2  (bases 1 to 3608)
  AUTHORS   Duan J, Huang D, Liu C, Lv Y, Zhang L, Chang F, Zeng X, Li L, Wang W
            and Shao G.
  TITLE     USP11-mediated LSH deubiquitination inhibits ferroptosis in
            colorectal cancer through epigenetic activation of CYP24A1
  JOURNAL   Cell Death Dis 14 (7), 402 (2023)
   PUBMED   37414755
  REMARK    GeneRIF: USP11-mediated LSH deubiquitination inhibits ferroptosis in
            colorectal cancer through epigenetic activation of CYP24A1.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3608)
  AUTHORS   Jiang N, Zhong YC, Lin QR, Song CS, Yu B and Hu YJ.
  TITLE     Solute carrier family 11 member 1 genetic polymorphisms rs17235409
            and rs3731865 associate with susceptibility to extremity
            post-traumatic osteomyelitis in a Chinese Han population
  JOURNAL   Int J Immunogenet 50 (3), 127-133 (2023)
   PUBMED   37098591
  REMARK    GeneRIF: Solute carrier family 11 member 1 genetic polymorphisms
            rs17235409 and rs3731865 associate with susceptibility to extremity
            post-traumatic osteomyelitis in a Chinese Han population.
REFERENCE   4  (bases 1 to 3608)
  AUTHORS   Kavian Z, Sargazi S, Majidpour M, Sarhadi M, Saravani R, Shahraki M,
            Mirinejad S, Heidari Nia M and Piri M.
  TITLE     Association of SLC11A1 polymorphisms with anthropometric and
            biochemical parameters describing Type 2 Diabetes Mellitus
  JOURNAL   Sci Rep 13 (1), 6195 (2023)
   PUBMED   37062790
  REMARK    GeneRIF: Association of SLC11A1 polymorphisms with anthropometric
            and biochemical parameters describing Type 2 Diabetes Mellitus.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3608)
  AUTHORS   Shahzad F, Bashir N, Ali A, Nadeem A, Ammar A, Kashif M, Javaid K,
            Jahan S, Tahir R, Rizwan M, Mushtaq A and Afzal N.
  TITLE     SLC11A1 genetic variation and low expression may cause immune
            response impairment in TB patients
  JOURNAL   Genes Immun 23 (2), 85-92 (2022)
   PUBMED   35140349
  REMARK    GeneRIF: SLC11A1 genetic variation and low expression may cause
            immune response impairment in TB patients.
REFERENCE   6  (bases 1 to 3608)
  AUTHORS   Liu J, Fujiwara TM, Buu NT, Sanchez FO, Cellier M, Paradis AJ,
            Frappier D, Skamene E, Gros P, Morgan K et al.
  TITLE     Identification of polymorphisms and sequence variants in the human
            homologue of the mouse natural resistance-associated macrophage
            protein gene
  JOURNAL   Am J Hum Genet 56 (4), 845-853 (1995)
   PUBMED   7717395
REFERENCE   7  (bases 1 to 3608)
  AUTHORS   Blackwell JM, Barton CH, White JK, Searle S, Baker AM, Williams H
            and Shaw MA.
  TITLE     Genomic organization and sequence of the human NRAMP gene:
            identification and mapping of a promoter region polymorphism
  JOURNAL   Mol Med 1 (2), 194-205 (1995)
   PUBMED   8529098
REFERENCE   8  (bases 1 to 3608)
  AUTHORS   Kishi F.
  TITLE     Isolation and characterization of human Nramp cDNA
  JOURNAL   Biochem Biophys Res Commun 204 (3), 1074-1080 (1994)
   PUBMED   7980580
REFERENCE   9  (bases 1 to 3608)
  AUTHORS   Cellier M, Govoni G, Vidal S, Kwan T, Groulx N, Liu J, Sanchez F,
            Skamene E, Schurr E and Gros P.
  TITLE     Human natural resistance-associated macrophage protein: cDNA
            cloning, chromosomal mapping, genomic organization, and
            tissue-specific expression
  JOURNAL   J Exp Med 180 (5), 1741-1752 (1994)
   PUBMED   7964458
REFERENCE   10  (bases 1 to 3608)
  AUTHORS   Vidal SM, Malo D, Vogan K, Skamene E and Gros P.
  TITLE     Natural resistance to infection with intracellular parasites:
            isolation of a candidate for Bcg
  JOURNAL   Cell 73 (3), 469-485 (1993)
   PUBMED   8490962
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.36007.1, D50402.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA2142363 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000233202.11/ ENSP00000233202.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB284801.1, L32185.1,
            AC021016.5 and CA307182.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000578.3.
            Summary: This gene is a member of the solute carrier family 11
            (proton-coupled divalent metal ion transporters) family and encodes
            a multi-pass membrane protein. The protein functions as a divalent
            transition metal (iron and manganese) transporter involved in iron
            metabolism and host resistance to certain pathogens. Mutations in
            this gene have been associated with susceptibility to infectious
            diseases such as tuberculosis and leprosy, and inflammatory
            diseases such as rheumatoid arthritis and Crohn disease.
            Alternatively spliced variants that encode different protein
            isoforms have been described but the full-length nature of only one
            has been determined. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3608
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..3608
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="solute carrier family 11 member 1"
                     /db_xref="GeneID:6556"
                     /db_xref="HGNC:HGNC:10907"
                     /db_xref="MIM:600266"
     misc_feature    40..42
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="upstream in-frame stop codon"
     CDS             97..1749
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="solute carrier family 11 (sodium/phosphate
                     symporters), member 1; NRAMP 1; solute carrier family 11
                     (proton-coupled divalent metal ion transporters), member 1;
                     solute carrier family 11 (proton-coupled divalent metal ion
                     transporter), member 1; Leishmaniasis resistance"
                     /codon_start=1
                     /product="natural resistance-associated macrophage protein
                     1"
                     /protein_id="NP_000569.3"
                     /db_xref="CCDS:CCDS2415.1"
                     /db_xref="GeneID:6556"
                     /db_xref="HGNC:HGNC:10907"
                     /db_xref="MIM:600266"
                     /translation="MTGDKGPQRLSGSSYGSISSPTSPTSPGPQQAPPRETYLSEKIPI
                     PDTKPGTFSLRKLWAFTGPGFLMSIAFLDPGNIESDLQAGAVAGFKLLWVLLWATVLGL
                     LCQRLAARLGVVTGKDLGEVCHLYYPKVPRTVLWLTIELAIVGSDMQEVIGTAIAFNLL
                     SAGRIPLWGGVLITIVDTFFFLFLDNYGLRKLEAFFGLLITIMALTFGYEYVVARPEQG
                     ALLRGLFLPSCPGCGHPELLQAVGIVGAIIMPHNIYLHSALVKSREIDRARRADIREAN
                     MYFLIEATIALSVSFIINLFVMAVFGQAFYQKTNQAAFNICANSSLHDYAKIFPMNNAT
                     VAVDIYQGGVILGCLFGPAALYIWAIGLLAAGQSSTMTGTYAGQFVMEGFLRLRWSRFA
                     RVLLTRSCAILPTVLVAVFRDLRDLSGLNDLLNVLQSLLLPFAVLPILTFTSMPTLMQE
                     FANGLLNKVVTSSIMVLVCAINLYFVVSYLPSLPHPAYFGLAALLAAAYLGLSTYLVWT
                     CCLAHGATFLAHSSHHHFLYGLLEEDQKGETSG"
     misc_feature    97..231
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P49279.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    271..324
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P49279.1);
                     transmembrane region"
     misc_feature    352..411
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P49279.1);
                     transmembrane region"
     misc_feature    523..585
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P49279.1);
                     transmembrane region"
     misc_feature    598..657
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P49279.1);
                     transmembrane region"
     misc_feature    685..747
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P49279.1);
                     transmembrane region"
     misc_feature    817..873
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P49279.1);
                     transmembrane region"
     misc_feature    958..1017
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P49279.1);
                     transmembrane region"
     misc_feature    1066..1068
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P49279.1); glycosylation site"
     misc_feature    1108..1110
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P49279.1); glycosylation site"
     misc_feature    1144..1203
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P49279.1);
                     transmembrane region"
     misc_feature    1297..1350
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P49279.1);
                     transmembrane region"
     misc_feature    1384..1446
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P49279.1);
                     transmembrane region"
     misc_feature    1495..1560
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P49279.1);
                     transmembrane region"
     misc_feature    1585..1644
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P49279.1);
                     transmembrane region"
     regulatory      3585..3590
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="hexamer: ATTAAA"
     polyA_site      3608
                     /gene="SLC11A1"
                     /gene_synonym="LSH; NRAMP; NRAMP1"
                     /note="major polyA site"
ORIGIN
        1 acacttactt gcaccagtgc ccagagaggg ggtgcaggct gaggagctgc ccagagcacc
       61 gctcacactc ccagagtacc tgaagtcggc atttcaatga caggtgacaa gggtccccaa
      121 aggctaagcg ggtccagcta tggttccatc tccagcccga ccagcccgac cagcccaggg
      181 ccacagcaag cacctcccag agagacctac ctgagtgaga agatccccat cccagacaca
      241 aaaccgggca ccttcagcct gcggaagcta tgggccttca cggggcctgg cttcctcatg
      301 agcattgctt tcctggaccc aggaaacatc gagtcagatc ttcaggctgg cgccgtggcg
      361 ggattcaaac ttctctgggt gctgctctgg gccaccgtgt tgggcttgct ctgccagcga
      421 ctggctgcac gtctgggcgt ggtgacaggc aaggacttgg gcgaggtctg ccatctctac
      481 taccctaagg tgccccgcac cgtcctctgg ctgaccatcg agctagccat tgtgggctcc
      541 gacatgcagg aagtcatcgg cacggccatt gcattcaatc tgctctcagc tggacgaatc
      601 ccactctggg gtggcgtcct catcaccatc gtggacacct tcttcttcct cttcctcgat
      661 aactacgggc tgcggaagct ggaagctttt tttggactcc ttataaccat tatggccttg
      721 acctttggct atgagtatgt ggtggcgcgt cctgagcagg gagcgcttct tcggggcctg
      781 ttcctgccct cgtgcccggg ctgcggccac cccgagctgc tgcaggcggt gggcattgtt
      841 ggcgccatca tcatgcccca caacatctac ctgcactcgg ccctggtcaa gtctcgagag
      901 atagaccggg cccgccgagc agacatcaga gaagccaaca tgtacttcct gattgaggcc
      961 accatcgccc tgtccgtctc ctttatcatc aacctctttg tcatggctgt ctttgggcag
     1021 gccttctacc agaaaaccaa ccaggctgcg ttcaacatct gtgccaacag cagcctccac
     1081 gactacgcca agatcttccc catgaacaac gccaccgtgg ccgtggacat ttaccagggg
     1141 ggcgtgatcc tgggctgcct gttcggcccc gcggccctct acatctgggc cataggtctc
     1201 ctggcggctg ggcagagctc caccatgacg ggcacctacg cgggacagtt cgtgatggag
     1261 ggcttcctga ggctgcggtg gtcacgcttc gcccgtgtcc tcctcacccg ctcctgcgcc
     1321 atcctgccca ccgtgctcgt ggctgtcttc cgggacctga gggacttgtc gggcctcaat
     1381 gatctgctca acgtgctgca gagcctgctg ctcccgttcg ccgtgctgcc catcctcacg
     1441 ttcaccagca tgcccaccct catgcaggag tttgccaatg gcctgctgaa caaggtcgtc
     1501 acctcttcca tcatggtgct agtctgcgcc atcaacctct acttcgtggt cagctatctg
     1561 cccagcctgc cccaccctgc ctacttcggc cttgcagcct tgctggccgc agcctacctg
     1621 ggcctcagca cctacctggt ctggacctgt tgccttgccc acggagccac ctttctggcc
     1681 cacagctccc accaccactt cctgtatggg ctccttgaag aggaccagaa aggggagacc
     1741 tctggctagg cccacaccag ggcctggctg ggagtggcat gtatgacgtg actggcctgc
     1801 tggatgtgga gggggcgcgt gcaggcagca ggatagagtg ggacagttcc tgagaccagc
     1861 caacctgggg gctttaggga cctgctgttt cctagcgcag ccatgtgatt accctctggg
     1921 tctcagtgtc ctcatctgta aaatggagac accaccaccc ttgccatgga ggttaagcac
     1981 tttaacacag tgtctggcac ttgggacaaa aacaaacaaa cgaaaaacat ttcaaaaggt
     2041 atttattgag cacctgcagg cgtgacctga cagcccaagg gtgggtgggg tgagggcttg
     2101 aggacttggg cgggacacag gctccaaact ggagcttgaa atagtgtctg atgaatgtta
     2161 aattatctat ctatctattt atttatttat ttgagacagg gaaagggtct ccctctgttg
     2221 ccaaggctgg agtgcagtgg cgcaatctta actcattgca acctccacct tctgggttca
     2281 agcgattctc tttattcagc cccgggagtg gcgcgcgcca ccacgcccag ctaatttgtg
     2341 tattttcagc agagacgggg tttgccatgc tggccaggct ggtctcgaac tgctggattc
     2401 aagtgatccg cccatctccg tctcccaaag tgctgggaat tacaggcgtg agccaccaaa
     2461 cccggcctga ttaaagttaa ataaatacta gttcccttct cgtccaaagg agcagggaat
     2521 gggaaccggg aaggcacgaa gtctctaaag catccagaag acccctacac cagggtctgg
     2581 tccgctccta ttcgccgcag cctttctgtt ccgcctgcaa cccattttcc agacagtaaa
     2641 acggcggcgc acttctttct ccgtcaggca ccaggtcata aggaacccaa gagtctgtgc
     2701 ctctgaggcc caaattattt gctgtttcct caggggagcc ggcggccgcg actcccacgc
     2761 cgcgccgtta ccgctccctc tctgctgact gctcccccta ggggcagaga cggtcccgac
     2821 gcccgccatc ccgccccggc ctcacccctc cccgccaggc ggaacgacgc ggggaggcgg
     2881 gcgctcgggg ctcgcgccag gggccccaga atccttcggg gagagtgggt gggaggaagc
     2941 tgtgtgggcg gggagccccc tctgccttag ggagcggctg ggcacccatt cgccccattc
     3001 aggggctgca ctttatagac gttccctagg ctgtttctag gctcccccaa gtccctcctc
     3061 cagcctcgtc gggtccctca gaccccagcc caggacctgc ggagggccgc agcgaggaga
     3121 ggccaacagg cctttcccta gagttgaacc tgggccgggt gttgcacctg gaagaacccc
     3181 cgatttcctg gggacccagc agggcaggcg gcctggctcc gcgctcaggt ccggacgctt
     3241 gtttatgaga agaatttcct ctttcttaaa agggcaacga tgcgagtggg tccctcaagg
     3301 agagaagaga tgggaccggt ctggtgcgac ctgggcaagc gctgcagagg gtacctgggc
     3361 aagagggccg cccgcctcct ctgggtttgg cactggagaa gatgggtcca tgccagctga
     3421 aggaggagat ggatggggga cgtttagcga agaaaggcat ctcccagatc ctttagcctc
     3481 ctggaagtgc ccccgttgta ccccctacac acccctcttg gcattgagtg ccagtcctct
     3541 gccaggctct gtgttacaag ttggggaggg cggcaaagtc ccgaattaaa gatgtcagtt
     3601 ctcaagga
//
LOCUS       NM_000581                899 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1,
            mRNA.
ACCESSION   NM_000581
VERSION     NM_000581.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 899)
  AUTHORS   Lei FJ, Chiang JY, Chang HJ, Chen DC, Wang HL, Yang HA, Wei KY,
            Huang YC, Wang CC, Wei ST and Hsieh CH.
  TITLE     Cellular and exosomal GPx1 are essential for controlling hydrogen
            peroxide balance and alleviating oxidative stress in hypoxic
            glioblastoma
  JOURNAL   Redox Biol 65, 102831 (2023)
   PUBMED   37572455
  REMARK    GeneRIF: Cellular and exosomal GPx1 are essential for controlling
            hydrogen peroxide balance and alleviating oxidative stress in
            hypoxic glioblastoma.
REFERENCE   2  (bases 1 to 899)
  AUTHORS   Fallah F, Colagar AH, Saleh HA and Ranjbar M.
  TITLE     Variation of the genes encoding antioxidant enzymes SOD2 (rs4880),
            GPX1 (rs1050450), and CAT (rs1001179) and susceptibility to male
            infertility: a genetic association study and in silico analysis
  JOURNAL   Environ Sci Pollut Res Int 30 (36), 86412-86424 (2023)
   PUBMED   37405601
  REMARK    GeneRIF: Variation of the genes encoding antioxidant enzymes SOD2
            (rs4880), GPX1 (rs1050450), and CAT (rs1001179) and susceptibility
            to male infertility: a genetic association study and in silico
            analysis.
REFERENCE   3  (bases 1 to 899)
  AUTHORS   Toczewska J, Baczynska D, Zalewska A, Maciejczyk M and Konopka T.
  TITLE     The mRNA expression of genes encoding selected antioxidant enzymes
            and thioredoxin, and the concentrations of their protein products in
            gingival crevicular fluid and saliva during periodontitis
  JOURNAL   Dent Med Probl 60 (2), 255-265 (2023)
   PUBMED   37390459
  REMARK    GeneRIF: The mRNA expression of genes encoding selected antioxidant
            enzymes and thioredoxin, and the concentrations of their protein
            products in gingival crevicular fluid and saliva during
            periodontitis.
REFERENCE   4  (bases 1 to 899)
  AUTHORS   Ahuja SG, Shahu A, Rath S, Adkar N, Shouche Y, Ghaskadbi S and Ashma
            R.
  TITLE     Polyalanine polymorphism in the signal peptide of Glutathione
            peroxidase 1 (GPX1) gene & its association with osteoporosis
  JOURNAL   Indian J Med Res 156 (4&5), 640-647 (2022)
   PUBMED   36926781
  REMARK    GeneRIF: Polyalanine polymorphism in the signal peptide of
            Glutathione peroxidase 1 (GPX1) gene & its association with
            osteoporosis.
REFERENCE   5  (bases 1 to 899)
  AUTHORS   Knight JA, Onay UV, Wells S, Li H, Shi EJ, Andrulis IL and Ozcelik
            H.
  TITLE     Genetic variants of GPX1 and SOD2 and breast cancer risk at the
            Ontario site of the Breast Cancer Family Registry
  JOURNAL   Cancer Epidemiol Biomarkers Prev 13 (1), 146-149 (2004)
   PUBMED   14744747
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 899)
  AUTHORS   Moscow JA, Morrow CS, He R, Mullenbach GT and Cowan KH.
  TITLE     Structure and function of the 5'-flanking sequence of the human
            cytosolic selenium-dependent glutathione peroxidase gene (hgpx1)
  JOURNAL   J Biol Chem 267 (9), 5949-5958 (1992)
   PUBMED   1556108
REFERENCE   7  (bases 1 to 899)
  AUTHORS   Chada S, Le Beau MM, Casey L and Newburger PE.
  TITLE     Isolation and chromosomal localization of the human glutathione
            peroxidase gene
  JOURNAL   Genomics 6 (2), 268-271 (1990)
   PUBMED   2307470
REFERENCE   8  (bases 1 to 899)
  AUTHORS   Mullenbach GT, Tabrizi A, Irvine BD, Bell GI, Tainer JA and
            Hallewell RA.
  TITLE     Selenocysteine's mechanism of incorporation and evolution revealed
            in cDNAs of three glutathione peroxidases
  JOURNAL   Protein Eng 2 (3), 239-246 (1988)
   PUBMED   2976939
REFERENCE   9  (bases 1 to 899)
  AUTHORS   Sukenaga Y, Ishida K, Takeda T and Takagi K.
  TITLE     cDNA sequence coding for human glutathione peroxidase
  JOURNAL   Nucleic Acids Res 15 (17), 7178 (1987)
   PUBMED   3658677
REFERENCE   10  (bases 1 to 899)
  AUTHORS   Mullenbach,G.T., Tabrizi,A., Irvine,B.D., Bell,G.I. and
            Hallewell,R.A.
  TITLE     Sequence of a cDNA coding for human glutathione peroxidase confirms
            TGA encodes active site selenocysteine
  JOURNAL   Nucleic Acids Res 15 (13), 5484 (1987)
   PUBMED   2955287
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HM005391.1, SRR1163655.478345.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000419783.3/ ENSP00000407375.1
            protein contains selenocysteine :: PMID: 2955287
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA730294.1 and BC007865.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000581.3.
            Summary: The protein encoded by this gene belongs to the
            glutathione peroxidase family, members of which catalyze the
            reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by
            glutathione, and thereby protect cells against oxidative damage.
            Other studies indicate that H2O2 is also essential for
            growth-factor mediated signal transduction, mitochondrial function,
            and maintenance of thiol redox-balance; therefore, by limiting H2O2
            accumulation, glutathione peroxidases are also involved in
            modulating these processes. Several isozymes of this gene family
            exist in vertebrates, which vary in cellular location and substrate
            specificity. This isozyme is the most abundant, is ubiquitously
            expressed and localized in the cytoplasm, and whose preferred
            substrate is hydrogen peroxide. It is also a selenoprotein,
            containing the rare amino acid selenocysteine (Sec) at its active
            site. Sec is encoded by the UGA codon, which normally signals
            translation termination. The 3' UTRs of selenoprotein mRNAs contain
            a conserved stem-loop structure, designated the Sec insertion
            sequence (SECIS) element, that is necessary for the recognition of
            UGA as a Sec codon, rather than as a stop signal. This gene
            contains an in-frame GCG trinucleotide repeat in the coding region,
            and three alleles with 4, 5 or 6 repeats have been found in the
            human population. The allele with 4 GCG repeats has been
            significantly associated with breast cancer risk in premenopausal
            women. Alternatively spliced transcript variants have been found
            for this gene. Pseudogenes of this locus have been identified on
            chromosomes X and 21. [provided by RefSeq, Aug 2017].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..899
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..899
                     /gene="GPX1"
                     /gene_synonym="GPXD; GSHPX1"
                     /note="glutathione peroxidase 1"
                     /db_xref="GeneID:2876"
                     /db_xref="HGNC:HGNC:4553"
                     /db_xref="MIM:138320"
     CDS             76..687
                     /gene="GPX1"
                     /gene_synonym="GPXD; GSHPX1"
                     /EC_number="1.11.1.9"
                     /note="UGA stop codon recoded as selenocysteine; isoform 1
                     is encoded by transcript variant 1; cellular glutathione
                     peroxidase; GSHPx-1; selenoprotein GPX1"
                     /codon_start=1
                     /transl_except=(pos:220..222,aa:Sec)
                     /product="glutathione peroxidase 1 isoform 1"
                     /protein_id="NP_000572.2"
                     /db_xref="CCDS:CCDS43091.1"
                     /db_xref="GeneID:2876"
                     /db_xref="HGNC:HGNC:4553"
                     /db_xref="MIM:138320"
                     /translation="MCAARLAAAAAAAQSVYAFSARPLAGGEPVSLGSLRGKVLLIENV
                     ASLUGTTVRDYTQMNELQRRLGPRGLVVLGFPCNQFGHQENAKNEEILNSLKYVRPGGG
                     FEPNFMLFEKCEVNGAGAHPLFAFLREALPAPSDDATALMTDPKLITWSPVCRNDVAWN
                     FEKFLVGPDGVPLRRYSRRFQTIDIEPDIEALLSQGPSCA"
     misc_feature    175..177
                     /gene="GPX1"
                     /gene_synonym="GPXD; GSHPX1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04041; propagated from
                     UniProtKB/Swiss-Prot (P07203.4); phosphorylation site"
     misc_feature    220..222
                     /gene="GPX1"
                     /gene_synonym="GPXD; GSHPX1"
                     /note="Selenocysteine; other site"
     misc_feature    220..222
                     /gene="GPX1"
                     /gene_synonym="GPXD; GSHPX1"
                     /note="Subject to oxidation and hydroselenide loss to
                     dehydroalanine. /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (P07203.4); other site"
     misc_feature    337..339
                     /gene="GPX1"
                     /gene_synonym="GPXD; GSHPX1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P11352; propagated from
                     UniProtKB/Swiss-Prot (P07203.4); acetylation site"
     misc_feature    415..417
                     /gene="GPX1"
                     /gene_synonym="GPXD; GSHPX1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P11352; propagated from
                     UniProtKB/Swiss-Prot (P07203.4); acetylation site"
     misc_feature    517..519
                     /gene="GPX1"
                     /gene_synonym="GPXD; GSHPX1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P11352; propagated from
                     UniProtKB/Swiss-Prot (P07203.4); acetylation site"
     misc_feature    664..666
                     /gene="GPX1"
                     /gene_synonym="GPXD; GSHPX1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04041; propagated from
                     UniProtKB/Swiss-Prot (P07203.4); phosphorylation site"
     misc_feature    676..678
                     /gene="GPX1"
                     /gene_synonym="GPXD; GSHPX1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P07203.4); phosphorylation site"
     regulatory      740..808
                     /regulatory_class="recoding_stimulatory_region"
                     /gene="GPX1"
                     /gene_synonym="GPXD; GSHPX1"
                     /note="SECIS_element"
                     /function="essential for recoding UGA to specify
                     selenocysteine"
     regulatory      875..880
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPX1"
                     /gene_synonym="GPXD; GSHPX1"
                     /note="hexamer: AATAAA"
     polyA_site      899
                     /gene="GPX1"
                     /gene_synonym="GPXD; GSHPX1"
                     /note="major polyA site"
ORIGIN
        1 aaaaggaggc gcctgctggc ctccccttac agtgcttgtt cggggcgctc cgctggcttc
       61 ttggacaatt gcgccatgtg tgctgctcgg ctagcggcgg cggcggcggc ggcccagtcg
      121 gtgtatgcct tctcggcgcg cccgctggcc ggcggggagc ctgtgagcct gggctccctg
      181 cggggcaagg tactacttat cgagaatgtg gcgtccctct gaggcaccac ggtccgggac
      241 tacacccaga tgaacgagct gcagcggcgc ctcggacccc ggggcctggt ggtgctcggc
      301 ttcccgtgca accagtttgg gcatcaggag aacgccaaga acgaagagat tctgaattcc
      361 ctcaagtacg tccggcctgg tggtgggttc gagcccaact tcatgctctt cgagaagtgc
      421 gaggtgaacg gtgcgggggc gcaccctctc ttcgccttcc tgcgggaggc cctgccagct
      481 cccagcgacg acgccaccgc gcttatgacc gaccccaagc tcatcacctg gtctccggtg
      541 tgtcgcaacg atgttgcctg gaactttgag aagttcctgg tgggccctga cggtgtgccc
      601 ctacgcaggt acagccgccg cttccagacc attgacatcg agcctgacat cgaagccctg
      661 ctgtctcaag ggcccagctg tgcctagggc gcccctccta ccccggctgc ttggcagttg
      721 cagtgctgct gtctcggggg ggttttcatc tatgagggtg tttcctctaa acctacgagg
      781 gaggaacacc tgatcttaca gaaaatacca cctcgagatg ggtgctggtc ctgttgatcc
      841 cagtctctgc cagaccaagg cgagtttccc cactaataaa gtgccgggtg tcagcagaa
//
LOCUS       NM_000583               1685 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens GC vitamin D binding protein (GC), transcript variant
            1, mRNA.
ACCESSION   NM_000583
VERSION     NM_000583.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1685)
  AUTHORS   Gibbs DC, Thomas NE, Kanetsky PA, Luo L, Busam KJ, Cust AE,
            Anton-Culver H, Gallagher RP, Zanetti R, Rosso S, Sacchetto L,
            Edmiston SN, Conway K, Ollila DW, Begg CB, Berwick M, Ward SV and
            Orlow I.
  TITLE     Association of functional, inherited vitamin D-binding protein
            variants with melanoma-specific death
  JOURNAL   JNCI Cancer Spectr 7 (5) (2023)
   PUBMED   37494457
  REMARK    GeneRIF: Association of functional, inherited vitamin D-binding
            protein variants with melanoma-specific death.
REFERENCE   2  (bases 1 to 1685)
  AUTHORS   Bastyte D, Tamasauskiene L, Golubickaite I, Ugenskiene R and
            Sitkauskiene B.
  TITLE     Vitamin D receptor and vitamin D binding protein gene polymorphisms
            in patients with asthma: a pilot study
  JOURNAL   BMC Pulm Med 23 (1), 245 (2023)
   PUBMED   37407930
  REMARK    GeneRIF: Vitamin D receptor and vitamin D binding protein gene
            polymorphisms in patients with asthma: a pilot study. Erratum:[BMC
            Pulm Med. 2023 Aug 8;23(1):288. PMID: 37553614] Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1685)
  AUTHORS   Lisowska-Myjak B, Skarzynska E, Wrobel M, Manka G, Kiecka M, Lipa M,
            Warzecha D, Spaczynski R, Piekarski P, Banaszewska B, Jakimiuk A,
            Issat T, Rokita W, Mlodawski J, Szubert M, Sieroszewski P, Raba G,
            Szczupak K, Kluz T, Kluza M, Wielgos M and Laudanski P.
  TITLE     Investigation of the Changes in Concentrations of Vitamin D-Binding
            Protein and Lactoferin in Plasma and Peritoneal Fluid of Patients
            with Endometriosis
  JOURNAL   Int J Mol Sci 24 (9), 7828 (2023)
   PUBMED   37175534
  REMARK    GeneRIF: Investigation of the Changes in Concentrations of Vitamin
            D-Binding Protein and Lactoferin in Plasma and Peritoneal Fluid of
            Patients with Endometriosis. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1685)
  AUTHORS   Bolognesi E, Guerini FR, Sotgiu S, Chiappedi M, Carta A, Mensi MM,
            Agliardi C, Zanzottera M and Clerici M.
  TITLE     GC1f Vitamin D Binding Protein Isoform as a Marker of Severity in
            Autism Spectrum Disorders
  JOURNAL   Nutrients 14 (23), 5153 (2022)
   PUBMED   36501185
  REMARK    GeneRIF: GC1f Vitamin D Binding Protein Isoform as a Marker of
            Severity in Autism Spectrum Disorders. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 1685)
  AUTHORS   Chakravarthy Y, Mishra A, Krishnan P, Pathakota KR, Vijaya V and
            Kamatham SN.
  TITLE     Evaluation of serum and gingival crevicular fluid levels of Vitamin
            D binding protein in subjects with clinically healthy periodontium
            and chronic periodontitis: A clinico bio-chemical study
  JOURNAL   Indian J Dent Res 33 (3), 301-306 (2022)
   PUBMED   36656193
  REMARK    GeneRIF: Evaluation of serum and gingival crevicular fluid levels of
            Vitamin D binding protein in subjects with clinically healthy
            periodontium and chronic periodontitis: A clinico bio-chemical
            study.
REFERENCE   6  (bases 1 to 1685)
  AUTHORS   Braun A, Bichlmaier R and Cleve H.
  TITLE     Molecular analysis of the gene for the human vitamin-D-binding
            protein (group-specific component): allelic differences of the
            common genetic GC types
  JOURNAL   Hum Genet 89 (4), 401-406 (1992)
   PUBMED   1352271
REFERENCE   7  (bases 1 to 1685)
  AUTHORS   Esteban C, Geuskens M, Ena JM, Mishal Z, Macho A, Torres JM and
            Uriel J.
  TITLE     Receptor-mediated uptake and processing of vitamin D-binding protein
            in human B-lymphoid cells
  JOURNAL   J Biol Chem 267 (14), 10177-10183 (1992)
   PUBMED   1374401
REFERENCE   8  (bases 1 to 1685)
  AUTHORS   Yang F, Bergeron JM, Linehan LA, Lalley PA, Sakaguchi AY and Bowman
            BH.
  TITLE     Mapping and conservation of the group-specific component gene in
            mouse
  JOURNAL   Genomics 7 (4), 509-516 (1990)
   PUBMED   1696927
REFERENCE   9  (bases 1 to 1685)
  AUTHORS   Svasti,J., Kurosky,A., Bennett,A. and Bowman,B.H.
  TITLE     Molecular basis for the three major forms of human serum vitamin D
            binding protein (group-specific component)
  JOURNAL   Biochemistry 18 (8), 1611-1617 (1979)
   PUBMED   218624
REFERENCE   10  (bases 1 to 1685)
  AUTHORS   Mikkelsen,M., Jacobsen,P. and Henningsen,K.
  TITLE     Possible localization of Gc-System on chromosome 4. Loss of long arm
            4 material associated with father-child incompatibility within the
            Gc-System
  JOURNAL   Hum Hered 27 (2), 105-107 (1977)
   PUBMED   558959
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.90602.1,
            SRR5189658.103485.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2155590,
            SAMEA2162895 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000273951.13/ ENSP00000273951.8
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X03178.1, AA702473.1 and
            AK223458.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000583.3.
            Summary: The protein encoded by this gene belongs to the albumin
            gene family. It is a multifunctional protein found in plasma,
            ascitic fluid, cerebrospinal fluid and on the surface of many cell
            types. It binds to vitamin D and its plasma metabolites and
            transports them to target tissues. Alternatively spliced transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, Feb 2011].
            Transcript Variant: This variant (1) is a predominant transcript.
            This variant and variant 2 encode the same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1685
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     gene            1..1685
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /note="GC vitamin D binding protein"
                     /db_xref="GeneID:2638"
                     /db_xref="HGNC:HGNC:4187"
                     /db_xref="MIM:139200"
     CDS             62..1486
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /EC_number="6.4.-.-"
                     /EC_number="6.3.1.5"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; vitamin D-binding alpha-globulin; epididymis secretory
                     protein Li 51; vitamin D-binding protein; gc-globulin; gc
                     protein-derived macrophage activating factor; vitamin
                     D-binding protein-macrophage activating factor;
                     group-specific component (vitamin D binding protein)"
                     /codon_start=1
                     /product="vitamin D-binding protein isoform 1 precursor"
                     /protein_id="NP_000574.2"
                     /db_xref="CCDS:CCDS3550.1"
                     /db_xref="GeneID:2638"
                     /db_xref="HGNC:HGNC:4187"
                     /db_xref="MIM:139200"
                     /translation="MKRVLVLLLAVAFGHALERGRDYEKNKVCKEFSHLGKEDFTSLSL
                     VLYSRKFPSGTFEQVSQLVKEVVSLTEACCAEGADPDCYDTRTSALSAKSCESNSPFPV
                     HPGTAECCTKEGLERKLCMAALKHQPQEFPTYVEPTNDEICEAFRKDPKEYANQFMWEY
                     STNYGQAPLSLLVSYTKSYLSMVGSCCTSASPTVCFLKERLQLKHLSLLTTLSNRVCSQ
                     YAAYGEKKSRLSNLIKLAQKVPTADLEDVLPLAEDITNILSKCCESASEDCMAKELPEH
                     TVKLCDNLSTKNSKFEDCCQEKTAMDVFVCTYFMPAAQLPELPDVELPTNKDVCDPGNT
                     KVMDKYTFELSRRTHLPEVFLSKVLEPTLKSLGECCDVEDSTTCFNAKGPLLKKELSSF
                     IDKGQELCADYSENTFTEYKKKLAERLKAKLPDATPTELAKLVNKHSDFASNCCSINSP
                     PLYCDSEIDAELKNIL"
     sig_peptide     62..109
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     110..1483
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /product="Vitamin D-binding protein. /id=PRO_0000001102"
                     /note="propagated from UniProtKB/Swiss-Prot (P02774.2)"
     regulatory      1660..1665
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /note="hexamer: AATAAA"
     polyA_site      1685
                     /gene="GC"
                     /gene_synonym="DBP; DBP-maf; DBP/GC; Gc-MAF; GcMAF; GRD3;
                     HEL-S-51; VDB; VDBG; VDBP"
                     /note="major polyA site"
ORIGIN
        1 accactttta catggtcacc tacaggagag aggaggtgct gcaagactct ctggtagaaa
       61 aatgaagagg gtcctggtac tactgcttgc tgtggcattt ggacatgctt tagagagagg
      121 ccgggattat gaaaagaata aagtctgcaa ggaattctcc catctgggaa aggaggactt
      181 cacatctctg tcactagtcc tgtacagtag aaaatttccc agtggcacgt ttgaacaggt
      241 cagccaactt gtgaaggaag ttgtctcctt gaccgaagcc tgctgtgcgg aaggggctga
      301 ccctgactgc tatgacacca ggacctcagc actgtctgcc aagtcctgtg aaagtaattc
      361 tccattcccc gttcacccag gcactgctga gtgctgcacc aaagagggcc tggaacgaaa
      421 gctctgcatg gctgctctga aacaccagcc acaggaattc cctacctacg tggaacccac
      481 aaatgatgaa atctgtgagg cgttcaggaa agatccaaag gaatatgcta atcaatttat
      541 gtgggaatat tccactaatt acggacaagc tcctctgtca cttttagtca gttacaccaa
      601 gagttatctt tctatggtag ggtcctgctg tacctctgca agcccaactg tatgcttttt
      661 gaaagagaga ctccagctta aacatttatc acttctcacc actctgtcaa atagagtctg
      721 ctcacaatat gctgcttatg gggagaagaa atcaaggctc agcaatctca taaagttagc
      781 ccaaaaagtg cctactgctg atctggagga tgttttgcca ctagctgaag atattactaa
      841 catcctctcc aaatgctgtg agtctgcctc tgaagattgc atggccaaag agctgcctga
      901 acacacagta aaactctgtg acaatttatc cacaaagaat tctaagtttg aagactgttg
      961 tcaagaaaaa acagccatgg acgtttttgt gtgcacttac ttcatgccag ctgcccaact
     1021 ccccgagctt ccagatgtag agttgcccac aaacaaagat gtgtgtgatc caggaaacac
     1081 caaagtcatg gataagtata catttgaact aagcagaagg actcatcttc cggaagtatt
     1141 cctcagtaag gtacttgagc caaccctaaa aagccttggt gaatgctgtg atgttgaaga
     1201 ctcaactacc tgttttaatg ctaagggccc tctactaaag aaggaactat cttctttcat
     1261 tgacaaggga caagaactat gtgcagatta ttcagaaaat acatttactg agtacaagaa
     1321 aaaactggca gagcgactaa aagcaaaatt gcctgatgcc acacccacgg aactggcaaa
     1381 gctggttaac aagcactcag actttgcctc caactgctgt tccataaact cacctcctct
     1441 ttactgtgat tcagagattg atgctgaatt gaagaatatc ctgtagtcct gaagcatgtt
     1501 tattaacttt gaccagagtt ggagccaccc aggggaatga tctctgatga cctaacctaa
     1561 gcaaaaccac tgagcttctg ggaagacaac taggatactt tctacttttt ctagctacaa
     1621 tatcttcata caatgacaag tatgatgatt tgctatcaaa ataaattgaa atataatgca
     1681 aacca
//
LOCUS       NM_000584               1642 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens C-X-C motif chemokine ligand 8 (CXCL8), transcript
            variant 1, mRNA.
ACCESSION   NM_000584
VERSION     NM_000584.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1642)
  AUTHORS   Shao Y, Lan Y, Chai X, Gao S, Zheng J, Huang R, Shi Y, Xiang Y, Guo
            H, Xi Y, Yang L and Yang T.
  TITLE     CXCL8 induces M2 macrophage polarization and inhibits CD8+ T cell
            infiltration to generate an immunosuppressive microenvironment in
            colorectal cancer
  JOURNAL   FASEB J 37 (10), e23173 (2023)
   PUBMED   37665572
  REMARK    GeneRIF: CXCL8 induces M2 macrophage polarization and inhibits
            CD8[+] T cell infiltration to generate an immunosuppressive
            microenvironment in colorectal cancer.
REFERENCE   2  (bases 1 to 1642)
  AUTHORS   Lurje I, Gaisa NT, Dahl E, Knuchel R, Strnad P, Trautwein C, Tacke
            F, Neumann UP, Czigany Z and Lurje G.
  TITLE     Genetic polymorphisms in interleukin-1beta (rs1143634) and
            interleukin-8 (rs4073) are associated with survival after resection
            of intrahepatic cholangiocarcinoma
  JOURNAL   Sci Rep 13 (1), 12283 (2023)
   PUBMED   37507547
  REMARK    GeneRIF: Genetic polymorphisms in interleukin-1beta (rs1143634) and
            interleukin-8 (rs4073) are associated with survival after resection
            of intrahepatic cholangiocarcinoma. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1642)
  AUTHORS   Liu CZ, Liu XB, Sun J, Yu CQ, Yao JC, Liu Z and Hao JC.
  TITLE     IL-8-induced CXCR2 down-regulation in circulating monocytes in
            hepatocellular carcinoma is partially dependent on MAGL
  JOURNAL   BMC Cancer 23 (1), 626 (2023)
   PUBMED   37403022
  REMARK    GeneRIF: IL-8-induced CXCR2 down-regulation in circulating monocytes
            in hepatocellular carcinoma is partially dependent on MAGL.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1642)
  AUTHORS   Uslukaya O, Yegin Z, Taskesen F and Yildirim IH.
  TITLE     Elevated expression levels of COX-2, IL-8 and VEGF in colon
            adenocarcinoma
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 69 (6), 146-150 (2023)
   PUBMED   37605577
  REMARK    GeneRIF: Elevated expression levels of COX-2, IL-8 and VEGF in colon
            adenocarcinoma. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1642)
  AUTHORS   Matsushima K, Shichino S and Ueha S.
  TITLE     Thirty-five years since the discovery of chemotactic cytokines,
            interleukin-8 and MCAF: A historical overview
  JOURNAL   Proc Jpn Acad Ser B Phys Biol Sci 99 (7), 213-226 (2023)
   PUBMED   37518010
  REMARK    GeneRIF: Thirty-five years since the discovery of chemotactic
            cytokines, interleukin-8 and MCAF: A historical overview. Review
            article
REFERENCE   6  (bases 1 to 1642)
  AUTHORS   Koch AE, Polverini PJ, Kunkel SL, Harlow LA, DiPietro LA, Elner VM,
            Elner SG and Strieter RM.
  TITLE     Interleukin-8 as a macrophage-derived mediator of angiogenesis
  JOURNAL   Science 258 (5089), 1798-1801 (1992)
   PUBMED   1281554
REFERENCE   7  (bases 1 to 1642)
  AUTHORS   Morris SW, Nelson N, Valentine MB, Shapiro DN, Look AT, Kozlosky CJ,
            Beckmann MP and Cerretti DP.
  TITLE     Assignment of the genes encoding human interleukin-8 receptor types
            1 and 2 and an interleukin-8 receptor pseudogene to chromosome 2q35
  JOURNAL   Genomics 14 (3), 685-691 (1992)
   PUBMED   1427896
REFERENCE   8  (bases 1 to 1642)
  AUTHORS   Shimoya K, Matsuzaki N, Taniguchi T, Kameda T, Koyama M, Neki R,
            Saji F and Tanizawa O.
  TITLE     Human placenta constitutively produces interleukin-8 during
            pregnancy and enhances its production in intrauterine infection
  JOURNAL   Biol Reprod 47 (2), 220-226 (1992)
   PUBMED   1391327
REFERENCE   9  (bases 1 to 1642)
  AUTHORS   Baggiolini M and Clark-Lewis I.
  TITLE     Interleukin-8, a chemotactic and inflammatory cytokine
  JOURNAL   FEBS Lett 307 (1), 97-101 (1992)
   PUBMED   1639201
  REMARK    Review article
REFERENCE   10  (bases 1 to 1642)
  AUTHORS   Schall TJ, Bacon K, Toy KJ and Goeddel DV.
  TITLE     Selective attraction of monocytes and T lymphocytes of the memory
            phenotype by cytokine RANTES
  JOURNAL   Nature 347 (6294), 669-671 (1990)
   PUBMED   1699135
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK131067.1, SRR5189667.172257.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in cytokine storm inflammatory
            response
            MANE Ensembl match          :: ENST00000307407.8/ ENSP00000306512.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG497712.1 and BC013615.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000584.3.
            Summary: The protein encoded by this gene is a member of the CXC
            chemokine family and is a major mediator of the inflammatory
            response. The encoded protein is commonly referred to as
            interleukin-8 (IL-8). IL-8 is secreted by mononuclear macrophages,
            neutrophils, eosinophils, T lymphocytes, epithelial cells, and
            fibroblasts. It functions as a chemotactic factor by guiding the
            neutrophils to the site of infection. Bacterial and viral products
            rapidly induce IL-8 expression. IL-8 also participates with other
            cytokines in the proinflammatory signaling cascade and plays a role
            in systemic inflammatory response syndrome (SIRS). This gene is
            believed to play a role in the pathogenesis of the lower
            respiratory tract infection bronchiolitis, a common respiratory
            tract disease caused by the respiratory syncytial virus (RSV). The
            overproduction of this proinflammatory protein is thought to cause
            the lung inflammation associated with csytic fibrosis. This
            proinflammatory protein is also suspected of playing a role in
            coronary artery disease and endothelial dysfunction. This protein
            is also secreted by tumor cells and promotes tumor migration,
            invasion, angiogenesis and metastasis. This chemokine is also a
            potent angiogenic factor. The binding of IL-8 to one of its
            receptors (IL-8RB/CXCR2) increases the permeability of blood
            vessels and increasing levels of IL-8 are positively correlated
            with increased severity of multiple disease outcomes (eg, sepsis).
            This gene and other members of the CXC chemokine gene family form a
            gene cluster in a region of chromosome 4q. [provided by RefSeq, May
            2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1642
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     gene            1..1642
                     /gene="CXCL8"
                     /gene_synonym="GCP-1; GCP1; IL8; LECT; LUCT; LYNAP; MDNCF;
                     MONAP; NAF; NAP-1; NAP1; SCYB8"
                     /note="C-X-C motif chemokine ligand 8"
                     /db_xref="GeneID:3576"
                     /db_xref="HGNC:HGNC:6025"
                     /db_xref="MIM:146930"
     CDS             91..390
                     /gene="CXCL8"
                     /gene_synonym="GCP-1; GCP1; IL8; LECT; LUCT; LYNAP; MDNCF;
                     MONAP; NAF; NAP-1; NAP1; SCYB8"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; tumor necrosis factor-induced gene 1; alveolar
                     macrophage chemotactic factor I; lymphocyte derived
                     neutrophil activating peptide; lung giant cell
                     carcinoma-derived chemotactic protein; beta endothelial
                     cell-derived neutrophil activating peptide; granulocyte
                     chemotactic protein 1; beta-thromboglobulin-like protein;
                     emoctakin; monocyte-derived neutrophil chemotactic factor;
                     chemokine (C-X-C motif) ligand 8; neutrophil-activating
                     peptide 1; small inducible cytokine subfamily B, member 8;
                     interleukin 8; T-cell chemotactic factor; monocyte-derived
                     neutrophil-activating peptide"
                     /codon_start=1
                     /product="interleukin-8 isoform 1 precursor"
                     /protein_id="NP_000575.1"
                     /db_xref="CCDS:CCDS34005.1"
                     /db_xref="GeneID:3576"
                     /db_xref="HGNC:HGNC:6025"
                     /db_xref="MIM:146930"
                     /translation="MTSKLAVALLAAFLISAALCEGAVLPRSAKELRCQCIKTYSKPFH
                     PKFIKELRVIESGPHCANTEIIVKLSDGRELCLDPKENWVQRVVEKFLKRAENS"
     sig_peptide     91..150
                     /gene="CXCL8"
                     /gene_synonym="GCP-1; GCP1; IL8; LECT; LUCT; LYNAP; MDNCF;
                     MONAP; NAF; NAP-1; NAP1; SCYB8"
                     /note="/evidence=ECO:0000269|PubMed:2145175,
                     ECO:0000269|PubMed:2523801, ECO:0000269|PubMed:2648135;
                     propagated from UniProtKB/Swiss-Prot (P10145.1)"
     mat_peptide     151..387
                     /gene="CXCL8"
                     /gene_synonym="GCP-1; GCP1; IL8; LECT; LUCT; LYNAP; MDNCF;
                     MONAP; NAF; NAP-1; NAP1; SCYB8"
                     /product="MDNCF-a. /id=PRO_0000005126"
                     /note="propagated from UniProtKB/Swiss-Prot (P10145.1)"
     mat_peptide     157..387
                     /gene="CXCL8"
                     /gene_synonym="GCP-1; GCP1; IL8; LECT; LUCT; LYNAP; MDNCF;
                     MONAP; NAF; NAP-1; NAP1; SCYB8"
                     /product="Interleukin-8. /id=PRO_0000005127"
                     /note="propagated from UniProtKB/Swiss-Prot (P10145.1)"
     mat_peptide     169..387
                     /gene="CXCL8"
                     /gene_synonym="GCP-1; GCP1; IL8; LECT; LUCT; LYNAP; MDNCF;
                     MONAP; NAF; NAP-1; NAP1; SCYB8"
                     /product="IL-8(5-77). /id=PRO_0000041948"
                     /note="propagated from UniProtKB/Swiss-Prot (P10145.1)"
     misc_feature    169..174
                     /gene="CXCL8"
                     /gene_synonym="GCP-1; GCP1; IL8; LECT; LUCT; LYNAP; MDNCF;
                     MONAP; NAF; NAP-1; NAP1; SCYB8"
                     /note="Cleavage, by thrombin. /evidence=ECO:0000305;
                     propagated from UniProtKB/Swiss-Prot (P10145.1); cleavage
                     site"
     mat_peptide     172..387
                     /gene="CXCL8"
                     /gene_synonym="GCP-1; GCP1; IL8; LECT; LUCT; LYNAP; MDNCF;
                     MONAP; NAF; NAP-1; NAP1; SCYB8"
                     /product="IL-8(6-77). /id=PRO_0000005128"
                     /note="propagated from UniProtKB/Swiss-Prot (P10145.1)"
     misc_feature    172..177
                     /gene="CXCL8"
                     /gene_synonym="GCP-1; GCP1; IL8; LECT; LUCT; LYNAP; MDNCF;
                     MONAP; NAF; NAP-1; NAP1; SCYB8"
                     /note="Cleavage, by MMP9; propagated from
                     UniProtKB/Swiss-Prot (P10145.1); cleavage site"
     mat_peptide     175..387
                     /gene="CXCL8"
                     /gene_synonym="GCP-1; GCP1; IL8; LECT; LUCT; LYNAP; MDNCF;
                     MONAP; NAF; NAP-1; NAP1; SCYB8"
                     /product="IL-8(7-77). /id=PRO_0000005129"
                     /note="propagated from UniProtKB/Swiss-Prot (P10145.1)"
     mat_peptide     178..387
                     /gene="CXCL8"
                     /gene_synonym="GCP-1; GCP1; IL8; LECT; LUCT; LYNAP; MDNCF;
                     MONAP; NAF; NAP-1; NAP1; SCYB8"
                     /product="IL-8(8-77). /id=PRO_0000005130"
                     /note="propagated from UniProtKB/Swiss-Prot (P10145.1)"
     mat_peptide     181..387
                     /gene="CXCL8"
                     /gene_synonym="GCP-1; GCP1; IL8; LECT; LUCT; LYNAP; MDNCF;
                     MONAP; NAF; NAP-1; NAP1; SCYB8"
                     /product="IL-8(9-77). /id=PRO_0000005131"
                     /note="propagated from UniProtKB/Swiss-Prot (P10145.1)"
     regulatory      1620..1625
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CXCL8"
                     /gene_synonym="GCP-1; GCP1; IL8; LECT; LUCT; LYNAP; MDNCF;
                     MONAP; NAF; NAP-1; NAP1; SCYB8"
                     /note="hexamer: AATATA"
     polyA_site      1642
                     /gene="CXCL8"
                     /gene_synonym="GCP-1; GCP1; IL8; LECT; LUCT; LYNAP; MDNCF;
                     MONAP; NAF; NAP-1; NAP1; SCYB8"
                     /note="major polyA site"
ORIGIN
        1 acaaactttc agagacagca gagcacacaa gcttctagga caagagccag gaagaaacca
       61 ccggaaggaa ccatctcact gtgtgtaaac atgacttcca agctggccgt ggctctcttg
      121 gcagccttcc tgatttctgc agctctgtgt gaaggtgcag ttttgccaag gagtgctaaa
      181 gaacttagat gtcagtgcat aaagacatac tccaaacctt tccaccccaa atttatcaaa
      241 gaactgagag tgattgagag tggaccacac tgcgccaaca cagaaattat tgtaaagctt
      301 tctgatggaa gagagctctg tctggacccc aaggaaaact gggtgcagag ggttgtggag
      361 aagtttttga agagggctga gaattcataa aaaaattcat tctctgtggt atccaagaat
      421 cagtgaagat gccagtgaaa cttcaagcaa atctacttca acacttcatg tattgtgtgg
      481 gtctgttgta gggttgccag atgcaataca agattcctgg ttaaatttga atttcagtaa
      541 acaatgaata gtttttcatt gtaccatgaa atatccagaa catacttata tgtaaagtat
      601 tatttatttg aatctacaaa aaacaacaaa taatttttaa atataaggat tttcctagat
      661 attgcacggg agaatataca aatagcaaaa ttgaggccaa gggccaagag aatatccgaa
      721 ctttaatttc aggaattgaa tgggtttgct agaatgtgat atttgaagca tcacataaaa
      781 atgatgggac aataaatttt gccataaagt caaatttagc tggaaatcct ggattttttt
      841 ctgttaaatc tggcaaccct agtctgctag ccaggatcca caagtccttg ttccactgtg
      901 ccttggtttc tcctttattt ctaagtggaa aaagtattag ccaccatctt acctcacagt
      961 gatgttgtga ggacatgtgg aagcacttta agttttttca tcataacata aattattttc
     1021 aagtgtaact tattaaccta tttattattt atgtatttat ttaagcatca aatatttgtg
     1081 caagaatttg gaaaaataga agatgaatca ttgattgaat agttataaag atgttatagt
     1141 aaatttattt tattttagat attaaatgat gttttattag ataaatttca atcagggttt
     1201 ttagattaaa caaacaaaca attgggtacc cagttaaatt ttcatttcag ataaacaaca
     1261 aataattttt tagtataagt acattattgt ttatctgaaa ttttaattga actaacaatc
     1321 ctagtttgat actcccagtc ttgtcattgc cagctgtgtt ggtagtgctg tgttgaatta
     1381 cggaataatg agttagaact attaaaacag ccaaaactcc acagtcaata ttagtaattt
     1441 cttgctggtt gaaacttgtt tattatgtac aaatagattc ttataatatt atttaaatga
     1501 ctgcattttt aaatacaagg ctttatattt ttaactttaa gatgttttta tgtgctctcc
     1561 aaattttttt tactgtttct gattgtatgg aaatataaaa gtaaatatga aacatttaaa
     1621 atataatttg ttgtcaaagt aa
//
LOCUS       NM_000585               2015 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens interleukin 15 (IL15), transcript variant 3, mRNA.
ACCESSION   NM_000585
VERSION     NM_000585.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2015)
  AUTHORS   Khameneh HJ, Fonta N, Zenobi A, Niogret C, Ventura P, Guerra C, Kwee
            I, Rinaldi A, Pecoraro M, Geiger R, Cavalli A, Bertoni F, Vivier E,
            Trumpp A and Guarda G.
  TITLE     Myc controls NK cell development, IL-15-driven expansion, and
            translational machinery
  JOURNAL   Life Sci Alliance 6 (7), e202302069 (2023)
   PUBMED   37105715
  REMARK    GeneRIF: Myc controls NK cell development, IL-15-driven expansion,
            and translational machinery. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2015)
  AUTHORS   Sindaco P, Pandey H, Isabelle C, Chakravarti N, Brammer JE, Porcu P
            and Mishra A.
  TITLE     The role of interleukin-15 in the development and treatment of
            hematological malignancies
  JOURNAL   Front Immunol 14, 1141208 (2023)
   PUBMED   37153603
  REMARK    GeneRIF: The role of interleukin-15 in the development and treatment
            of hematological malignancies. Review article Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 2015)
  AUTHORS   Mortier E, Maillasson M and Quemener A.
  TITLE     Counteracting Interleukin-15 to Elucidate Its Modes of Action in
            Physiology and Pathology
  JOURNAL   J Interferon Cytokine Res 43 (1), 2-22 (2023)
   PUBMED   36651845
  REMARK    GeneRIF: Counteracting Interleukin-15 to Elucidate Its Modes of
            Action in Physiology and Pathology. Review article
REFERENCE   4  (bases 1 to 2015)
  AUTHORS   Zhang X, Zhang Y, Liu H, Tang K, Zhang C, Wang M, Xue M, Jia X, Hu
            H, Li N, Zhuang R, Jin B, Zhang F, Zhang Y and Ma Y.
  TITLE     IL-15 induced bystander activation of CD8+ T cells may mediate
            endothelium injury through NKG2D in Hantaan virus infection
  JOURNAL   Front Cell Infect Microbiol 12, 1084841 (2022)
   PUBMED   36590594
  REMARK    GeneRIF: IL-15 induced bystander activation of CD8[+] T cells may
            mediate endothelium injury through NKG2D in Hantaan virus infection.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2015)
  AUTHORS   Prado GHJD, Sardeli AV, Lord JM and Cavaglieri CR.
  TITLE     The effects of ageing, BMI and physical activity on blood IL-15
            levels: A systematic review and meta-analyses
  JOURNAL   Exp Gerontol 168, 111933 (2022)
   PUBMED   36007720
  REMARK    GeneRIF: The effects of ageing, BMI and physical activity on blood
            IL-15 levels: A systematic review and meta-analyses. Review article
REFERENCE   6  (bases 1 to 2015)
  AUTHORS   Johnston JA, Bacon CM, Finbloom DS, Rees RC, Kaplan D, Shibuya K,
            Ortaldo JR, Gupta S, Chen YQ, Giri JD et al.
  TITLE     Tyrosine phosphorylation and activation of STAT5, STAT3, and Janus
            kinases by interleukins 2 and 15
  JOURNAL   Proc Natl Acad Sci U S A 92 (19), 8705-8709 (1995)
   PUBMED   7568001
REFERENCE   7  (bases 1 to 2015)
  AUTHORS   Giri JG, Kumaki S, Ahdieh M, Friend DJ, Loomis A, Shanebeck K,
            DuBose R, Cosman D, Park LS and Anderson DM.
  TITLE     Identification and cloning of a novel IL-15 binding protein that is
            structurally related to the alpha chain of the IL-2 receptor
  JOURNAL   EMBO J 14 (15), 3654-3663 (1995)
   PUBMED   7641685
REFERENCE   8  (bases 1 to 2015)
  AUTHORS   Anderson DM, Johnson L, Glaccum MB, Copeland NG, Gilbert DJ, Jenkins
            NA, Valentine V, Kirstein MN, Shapiro DN, Morris SW et al.
  TITLE     Chromosomal assignment and genomic structure of Il15
  JOURNAL   Genomics 25 (3), 701-706 (1995)
   PUBMED   7759105
REFERENCE   9  (bases 1 to 2015)
  AUTHORS   Giri JG, Ahdieh M, Eisenman J, Shanebeck K, Grabstein K, Kumaki S,
            Namen A, Park LS, Cosman D and Anderson D.
  TITLE     Utilization of the beta and gamma chains of the IL-2 receptor by the
            novel cytokine IL-15
  JOURNAL   EMBO J 13 (12), 2822-2830 (1994)
   PUBMED   8026467
REFERENCE   10  (bases 1 to 2015)
  AUTHORS   Grabstein KH, Eisenman J, Shanebeck K, Rauch C, Srinivasan S, Fung
            V, Beers C, Richardson J, Schoenborn MA, Ahdieh M et al.
  TITLE     Cloning of a T cell growth factor that interacts with the beta chain
            of the interleukin-2 receptor
  JOURNAL   Science 264 (5161), 965-968 (1994)
   PUBMED   8178155
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.392131.1,
            SRR1163655.677066.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000320650.9/ ENSP00000323505.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC118480.3, CX761071.1,
            AC096774.1, BX116580.1 and AA897685.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000585.4.
            Summary: The protein encoded by this gene is a cytokine that
            regulates T and natural killer cell activation and proliferation.
            This cytokine and interleukine 2 share many biological activities.
            They are found to bind common hematopoietin receptor subunits, and
            may compete for the same receptor, and thus negatively regulate
            each other's activity. The number of CD8+ memory cells is shown to
            be controlled by a balance between this cytokine and IL2. This
            cytokine induces the activation of JAK kinases, as well as the
            phosphorylation and activation of transcription activators STAT3,
            STAT5, and STAT6. Studies of the mouse counterpart suggested that
            this cytokine may increase the expression of apoptosis inhibitor
            BCL2L1/BCL-x(L), possibly through the transcription activation
            activity of STAT6, and thus prevent apoptosis. Alternatively
            spliced transcript variants of this gene have been reported.
            [provided by RefSeq, Feb 2011].
            Transcript Variant: This variant (3) represents the shortest
            transcript and encodes the longer isoform (1, also known as
            48aa(LSP)-IL15).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2015
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.21"
     gene            1..2015
                     /gene="IL15"
                     /gene_synonym="IL-15"
                     /note="interleukin 15"
                     /db_xref="GeneID:3600"
                     /db_xref="HGNC:HGNC:5977"
                     /db_xref="MIM:600554"
     misc_feature    382..384
                     /gene="IL15"
                     /gene_synonym="IL-15"
                     /note="upstream in-frame stop codon"
     CDS             388..876
                     /gene="IL15"
                     /gene_synonym="IL-15"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 3"
                     /codon_start=1
                     /product="interleukin-15 isoform 1 preproprotein"
                     /protein_id="NP_000576.1"
                     /db_xref="CCDS:CCDS3755.1"
                     /db_xref="GeneID:3600"
                     /db_xref="HGNC:HGNC:5977"
                     /db_xref="MIM:600554"
                     /translation="MRISKPHLRSISIQCYLCLLLNSHFLTEAGIHVFILGCFSAGLPK
                     TEANWVNVISDLKKIEDLIQSMHIDATLYTESDVHPSCKVTAMKCFLLELQVISLESGD
                     ASIHDTVENLIILANNSLSSNGNVTESGCKECEELEEKNIKEFLQSFVHIVQMFINTS"
     sig_peptide     388..474
                     /gene="IL15"
                     /gene_synonym="IL-15"
     proprotein      475..873
                     /gene="IL15"
                     /gene_synonym="IL-15"
                     /product="interleukin-15 isoform 1 proprotein"
     mat_peptide     532..873
                     /gene="IL15"
                     /gene_synonym="IL-15"
                     /product="interleukin-15 isoform 1"
     misc_feature    766..768
                     /gene="IL15"
                     /gene_synonym="IL-15"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P40933.1); glycosylation site"
     regulatory      1152..1157
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL15"
                     /gene_synonym="IL-15"
                     /note="hexamer: AATAAA"
     polyA_site      1182
                     /gene="IL15"
                     /gene_synonym="IL-15"
     regulatory      1463..1468
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL15"
                     /gene_synonym="IL-15"
                     /note="hexamer: AATAAA"
     polyA_site      1487
                     /gene="IL15"
                     /gene_synonym="IL-15"
                     /note="major polyA site"
     regulatory      1526..1531
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL15"
                     /gene_synonym="IL-15"
                     /note="hexamer: AATAAA"
     polyA_site      1547
                     /gene="IL15"
                     /gene_synonym="IL-15"
     regulatory      1856..1861
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL15"
                     /gene_synonym="IL-15"
                     /note="hexamer: AAGAAA"
     polyA_site      1881
                     /gene="IL15"
                     /gene_synonym="IL-15"
     regulatory      1995..2000
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL15"
                     /gene_synonym="IL-15"
                     /note="hexamer: TATAAA"
     polyA_site      2015
                     /gene="IL15"
                     /gene_synonym="IL-15"
ORIGIN
        1 cttttcgcca ggggttggga ctccgggtgg caggcgcccg ggggaatccc agctgactcg
       61 ctcactgcct tcgaagtccg gcgccccccg ggagggaact gggtggccgc accctcccgg
      121 ctgcggtggc tgtcgccccc caccctgcag ccaggactcg atggagaatc cattccaata
      181 tatggccatg tggctctttg gagcaatgtt ccatcatgtt ccatgctgct gacgtcacat
      241 ggagcacaga aatcaatgtt agcagatagc cagcccatac aagatcgtat tgtattgtag
      301 gaggcattgt ggatggatgg ctgctggaaa ccccttgcca tagccagctc ttcttcaata
      361 cttaaggatt taccgtggct ttgagtaatg agaatttcga aaccacattt gagaagtatt
      421 tccatccagt gctacttgtg tttacttcta aacagtcatt ttctaactga agctggcatt
      481 catgtcttca ttttgggctg tttcagtgca gggcttccta aaacagaagc caactgggtg
      541 aatgtaataa gtgatttgaa aaaaattgaa gatcttattc aatctatgca tattgatgct
      601 actttatata cggaaagtga tgttcacccc agttgcaaag taacagcaat gaagtgcttt
      661 ctcttggagt tacaagttat ttcacttgag tccggagatg caagtattca tgatacagta
      721 gaaaatctga tcatcctagc aaacaacagt ttgtcttcta atgggaatgt aacagaatct
      781 ggatgcaaag aatgtgagga actggaggaa aaaaatatta aagaattttt gcagagtttt
      841 gtacatattg tccaaatgtt catcaacact tcttgattgc aattgattct ttttaaagtg
      901 tttctgttat taacaaacat cactctgctg cttagacata acaaaacact cggcatttca
      961 aatgtgctgt caaaacaagt ttttctgtca agaagatgat cagaccttgg atcagatgaa
     1021 ctcttagaaa tgaaggcaga aaaatgtcat tgagtaatat agtgactatg aacttctctc
     1081 agacttactt tactcatttt tttaatttat tattgaaatt gtacatattt gtggaataat
     1141 gtaaaatgtt gaataaaaat atgtacaagt gttgtttttt aagttgcact gatattttac
     1201 ctcttattgc aaaatagcat ttgtttaagg gtgatagtca aattatgtat tggtggggct
     1261 gggtaccaat gctgcaggtc aacagctatg ctggtaggct cctgccagtg tggaaccact
     1321 gactactggc tctcattgac ttccttacta agcatagcaa acagaggaag aatttgttat
     1381 cagtaagaaa aagaagaact atatgtgaat cctcttcttt atactgtaat ttagttattg
     1441 atgtataaag caactgttat gaaataaaga aattgcaata actggcatat aatgtccatc
     1501 agtaaatctt ggtggtggtg gcaataataa acttctactg ataggtagaa tggtgtgcaa
     1561 gcttgtccaa tcacggattg caggccacat gcggcccagg acaactttga atgtggccca
     1621 acacaaattc ataaactttc atacatctcg tttttagctc atcagctatc attagcggta
     1681 gtgtatttaa agtgtggccc aagacaattc ttcttattcc aatgtggccc agggaaatca
     1741 aaagattgga tgcccctggt atagaaaact aatagtgaca gtgttcatat ttcatgcttt
     1801 cccaaataca ggtattttat tttcacattc tttttgccat gtttatataa taataaagaa
     1861 aaaccctgtt gatttgttgg agccattgtt atctgacaga aaataattgt ttatattttt
     1921 tgcactacac tgtctaaaat tagcaagctc tcttctaatg gaactgtaag aaagatgaaa
     1981 tatttttgtt ttattataaa tttatttcac cttaa
//
LOCUS       NM_000586               1029 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens interleukin 2 (IL2), mRNA.
ACCESSION   NM_000586
VERSION     NM_000586.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1029)
  AUTHORS   Trujillo-Cirilo L, Weiss-Steider B, Vargas-Angeles CA, Corona-Ortega
            MT and Rangel-Corona R.
  TITLE     Immune microenvironment of cervical cancer and the role of IL-2 in
            tumor promotion
  JOURNAL   Cytokine 170, 156334 (2023)
   PUBMED   37598478
  REMARK    GeneRIF: Immune microenvironment of cervical cancer and the role of
            IL-2 in tumor promotion. Review article
REFERENCE   2  (bases 1 to 1029)
  AUTHORS   Ghanbari Naeini L, Abbasi L, Karimi F, Kokabian P, Abdi Abyaneh F
            and Naderi D.
  TITLE     The Important Role of Interleukin-2 in COVID-19
  JOURNAL   J Immunol Res 2023, 7097329 (2023)
   PUBMED   37649897
  REMARK    GeneRIF: The Important Role of Interleukin-2 in COVID-19. Review
            article Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1029)
  AUTHORS   Spolski R, Li P and Leonard WJ.
  TITLE     Biology and regulation of IL-2: from molecular mechanisms to human
            therapy
  JOURNAL   Nat Rev Immunol 18 (10), 648-659 (2018)
   PUBMED   30089912
  REMARK    GeneRIF: IL-2 regulates CD4(+) T cell differentiation and function,
            the effector and memory responses of CD8(+) T cells, and the loss of
            IL-2 or responsiveness to IL-2 at least in part explains the
            exhausted phenotype that occurs during chronic viral infections and
            in tumour responses. Review article
REFERENCE   4  (bases 1 to 1029)
  AUTHORS   Abbas AK, Trotta E, R Simeonov D, Marson A and Bluestone JA.
  TITLE     Revisiting IL-2: Biology and therapeutic prospects
  JOURNAL   Sci Immunol 3 (25) (2018)
   PUBMED   29980618
  REMARK    Review article
REFERENCE   5  (bases 1 to 1029)
  AUTHORS   Ross SH and Cantrell DA.
  TITLE     Signaling and Function of Interleukin-2 in T Lymphocytes
  JOURNAL   Annu Rev Immunol 36, 411-433 (2018)
   PUBMED   29677473
  REMARK    Review article
REFERENCE   6  (bases 1 to 1029)
  AUTHORS   Wrangle JM, Patterson A, Johnson CB, Neitzke DJ, Mehrotra S,
            Denlinger CE, Paulos CM, Li Z, Cole DJ and Rubinstein MP.
  TITLE     IL-2 and Beyond in Cancer Immunotherapy
  JOURNAL   J Interferon Cytokine Res 38 (2), 45-68 (2018)
   PUBMED   29443657
  REMARK    Review article
REFERENCE   7  (bases 1 to 1029)
  AUTHORS   Arenas-Ramirez N, Woytschak J and Boyman O.
  TITLE     Interleukin-2: Biology, Design and Application
  JOURNAL   Trends Immunol 36 (12), 763-777 (2015)
   PUBMED   26572555
  REMARK    Review article
REFERENCE   8  (bases 1 to 1029)
  AUTHORS   Boyman O, Kolios AG and Raeber ME.
  TITLE     Modulation of T cell responses by IL-2 and IL-2 complexes
  JOURNAL   Clin Exp Rheumatol 33 (4 Suppl 92), S54-S57 (2015)
   PUBMED   26457438
  REMARK    Review article
REFERENCE   9  (bases 1 to 1029)
  AUTHORS   Purvis SF, Georges DL, Williams TM and Lederman MM.
  TITLE     Suppression of interleukin-2 and interleukin-2 receptor expression
            in Jurkat cells stably expressing the human immunodeficiency virus
            Tat protein
  JOURNAL   Cell Immunol 144 (1), 32-42 (1992)
   PUBMED   1394441
REFERENCE   10  (bases 1 to 1029)
  AUTHORS   Brodie C and Gelfand EW.
  TITLE     Functional nerve growth factor receptors on human B lymphocytes.
            Interaction with IL-2
  JOURNAL   J Immunol 148 (11), 3492-3497 (1992)
   PUBMED   1316918
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: S82692.1, BC070338.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in cytokine storm inflammatory
            response
            MANE Ensembl match          :: ENST00000226730.5/ ENSP00000226730.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022489.7.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 21, 2019 this sequence version replaced NM_000586.3.
            Summary: This gene is a member of the interleukin 2 (IL2) cytokine
            subfamily which includes IL4, IL7, IL9, IL15, IL21, erythropoietin,
            and thrombopoietin. The protein encoded by this gene is a secreted
            cytokine produced by activated CD4+ and CD8+ T lymphocytes, that is
            important for the proliferation of T and B lymphocytes. The
            receptor of this cytokine (IL2R) is a heterotrimeric protein
            complex whose gamma chain is also shared by IL4 and IL7. The
            expression of this gene in mature thymocytes is monoallelic, which
            represents an unusual regulatory mode for controlling the precise
            expression of a single gene. The targeted disruption of a similar
            gene in mice leads to ulcerative colitis-like disease, which
            suggests an essential role of this gene in the immune response to
            antigenic stimuli. [provided by RefSeq, Sep 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1029
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q27"
     gene            1..1029
                     /gene="IL2"
                     /gene_synonym="IL-2; lymphokine; TCGF"
                     /note="interleukin 2"
                     /db_xref="GeneID:3558"
                     /db_xref="HGNC:HGNC:6001"
                     /db_xref="MIM:147680"
     misc_feature    250..252
                     /gene="IL2"
                     /gene_synonym="IL-2; lymphokine; TCGF"
                     /note="upstream in-frame stop codon"
     CDS             286..747
                     /gene="IL2"
                     /gene_synonym="IL-2; lymphokine; TCGF"
                     /note="T cell growth factor; aldesleukin; involved in
                     regulation of T-cell clonal expansion"
                     /codon_start=1
                     /product="interleukin-2 precursor"
                     /protein_id="NP_000577.2"
                     /db_xref="CCDS:CCDS3726.1"
                     /db_xref="GeneID:3558"
                     /db_xref="HGNC:HGNC:6001"
                     /db_xref="MIM:147680"
                     /translation="MYRMQLLSCIALSLALVTNSAPTSSSTKKTQLQLEHLLLDLQMIL
                     NGINNYKNPKLTRMLTFKFYMPKKATELKHLQCLEEELKPLEEVLNLAQSKNFHLRPRD
                     LISNINVIVLELKGSETTFMCEYADETATIVEFLNRWITFCQSIISTLT"
     sig_peptide     286..345
                     /gene="IL2"
                     /gene_synonym="IL-2; lymphokine; TCGF"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     346..744
                     /gene="IL2"
                     /gene_synonym="IL-2; lymphokine; TCGF"
                     /product="Interleukin-2. /id=PRO_0000015484"
                     /note="propagated from UniProtKB/Swiss-Prot (P60568.1)"
     misc_feature    352..354
                     /gene="IL2"
                     /gene_synonym="IL-2; lymphokine; TCGF"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:2793860,
                     ECO:0000269|PubMed:6333684. /id=CAR_000051; propagated from
                     UniProtKB/Swiss-Prot (P60568.1); glycosylation site"
ORIGIN
        1 ctatcaccta agtgtgggct aatgtaacaa agagggattt cacctacatc cattcagtca
       61 gtctttgggg gtttaaagaa attccaaaga gtcatcagaa gaggaaaaat gaaggtaatg
      121 ttttttcaga caggtaaagt ctttgaaaat atgtgtaata tgtaaaacat tttgacaccc
      181 ccataatatt tttccagaat taacagtata aattgcatct cttgttcaag agttccctat
      241 cactctcttt aatcactact cacagtaacc tcaactcctg ccacaatgta caggatgcaa
      301 ctcctgtctt gcattgcact aagtcttgca cttgtcacaa acagtgcacc tacttcaagt
      361 tctacaaaga aaacacagct acaactggag catttactgc tggatttaca gatgattttg
      421 aatggaatta ataattacaa gaatcccaaa ctcaccagga tgctcacatt taagttttac
      481 atgcccaaga aggccacaga actgaaacat cttcagtgtc tagaagaaga actcaaacct
      541 ctggaggaag tgctaaattt agctcaaagc aaaaactttc acttaagacc cagggactta
      601 atcagcaata tcaacgtaat agttctggaa ctaaagggat ctgaaacaac attcatgtgt
      661 gaatatgctg atgagacagc aaccattgta gaatttctga acagatggat taccttttgt
      721 caaagcatca tctcaacact gacttgataa ttaagtgctt cccacttaaa acatatcagg
      781 ccttctattt atttaaatat ttaaatttta tatttattgt tgaatgtatg gtttgctacc
      841 tattgtaact attattctta atcttaaaac tataaatatg gatcttttat gattcttttt
      901 gtaagcccta ggggctctaa aatggtttca cttatttatc ccaaaatatt tattattatg
      961 ttgaatgtta aatatagtat ctatgtagat tggttagtaa aactatttaa taaatttgat
     1021 aaatataaa
//
LOCUS       NM_000587               5716 bp    mRNA    linear   PRI 12-FEB-2023
DEFINITION  Homo sapiens complement C7 (C7), mRNA.
ACCESSION   NM_000587
VERSION     NM_000587.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5716)
  AUTHORS   Wang S, Hu W, Xie Y, Wu H, Jia Z, Zhang Z and Zhang X.
  TITLE     Functional genetic variants in complement component 7 confer
            susceptibility to gastric cancer
  JOURNAL   PeerJ 10, e12816 (2022)
   PUBMED   35111412
  REMARK    GeneRIF: Functional genetic variants in complement component 7
            confer susceptibility to gastric cancer. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 5716)
  AUTHORS   Lukassen MV, Franc V, Hevler JF and Heck AJR.
  TITLE     Similarities and differences in the structures and proteoform
            profiles of the complement proteins C6 and C7
  JOURNAL   Proteomics 21 (21-22), e2000310 (2021)
   PUBMED   34241972
  REMARK    GeneRIF: Similarities and differences in the structures and
            proteoform profiles of the complement proteins C6 and C7.
REFERENCE   3  (bases 1 to 5716)
  AUTHORS   Aarsetoy R, Ueland T, Aukrust P, Michelsen AE, Leon de la Fuente R,
            Grundt H, Staines H, Nygaard O and Nilsen DWT.
  TITLE     Complement component 7 is associated with total- and cardiac death
            in chest-pain patients with suspected acute coronary syndrome
  JOURNAL   BMC Cardiovasc Disord 21 (1), 496 (2021)
   PUBMED   34649504
  REMARK    GeneRIF: Complement component 7 is associated with total- and
            cardiac death in chest-pain patients with suspected acute coronary
            syndrome. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5716)
  AUTHORS   Jiang Z, Jiang Q, Fang X, Wang P, Que W, Li H, Yu Y, Liu X, Wang C
            and Zhong L.
  TITLE     Recipient C7 rs9292795 genotype and the risk of hepatocellular
            carcinoma recurrence after orthotopic liver transplantation in a Han
            Chinese population
  JOURNAL   BMC Cancer 21 (1), 521 (2021)
   PUBMED   33964921
  REMARK    GeneRIF: Recipient C7 rs9292795 genotype and the risk of
            hepatocellular carcinoma recurrence after orthotopic liver
            transplantation in a Han Chinese population. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 5716)
  AUTHORS   Sonnen AF and Henneke P.
  TITLE     Structural biology of the membrane attack complex
  JOURNAL   Subcell Biochem 80, 83-116 (2014)
   PUBMED   24798009
  REMARK    Review article
REFERENCE   6  (bases 1 to 5716)
  AUTHORS   Hobart MJ, Fernie BA and DiScipio RG.
  TITLE     Structure of the human C7 gene and comparison with the C6, C8A, C8B,
            and C9 genes
  JOURNAL   J Immunol 154 (10), 5188-5194 (1995)
   PUBMED   7730625
REFERENCE   7  (bases 1 to 5716)
  AUTHORS   Hobart MJ, Fernie BA, DiScipio RG and Lachmann PJ.
  TITLE     A physical map of the C6 and C7 complement component gene region on
            chromosome 5p13
  JOURNAL   Hum Mol Genet 2 (7), 1035-1036 (1993)
   PUBMED   8364540
REFERENCE   8  (bases 1 to 5716)
  AUTHORS   DiScipio RG.
  TITLE     Formation and structure of the C5b-7 complex of the lytic pathway of
            complement
  JOURNAL   J Biol Chem 267 (24), 17087-17094 (1992)
   PUBMED   1387399
REFERENCE   9  (bases 1 to 5716)
  AUTHORS   Friduss SR, Sadoff WI, Hern AE and Fivenson DP.
  TITLE     Fatal pyoderma gangrenosum in association with C7 deficiency
  JOURNAL   J Am Acad Dermatol 27 (2 Pt 2), 356-359 (1992)
   PUBMED   1517503
REFERENCE   10  (bases 1 to 5716)
  AUTHORS   Coto E, Martinez-Naves E, Dominguez O, DiScipio RG, Urra JM and
            Lopez-Larrea C.
  TITLE     DNA polymorphisms and linkage relationship of the human complement
            component C6, C7, and C9 genes
  JOURNAL   Immunogenetics 33 (3), 184-187 (1991)
   PUBMED   1672663
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.16688.1,
            SRR1803617.241439.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000313164.10/ ENSP00000322061.9
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC025402.1, BC063851.1,
            AC114967.2 and AI654048.1.
            On May 17, 2019 this sequence version replaced NM_000587.3.
            Summary: This gene encodes a serum glycoprotein that forms a
            membrane attack complex together with complement components C5b,
            C6, C8, and C9 as part of the terminal complement pathway of the
            innate immune system. The protein encoded by this gene contains a
            cholesterol-dependent cytolysin/membrane attack
            complex/perforin-like (CDC/MACPF) domain and belongs to a large
            family of structurally related molecules that form pores involved
            in host immunity and bacterial pathogenesis. This protein initiates
            membrane attack complex formation by binding the C5b-C6 subcomplex
            and inserts into the phospholipid bilayer, serving as a membrane
            anchor. Mutations in this gene are associated with a rare disorder
            called C7 deficiency. [provided by RefSeq, Nov 2016].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5716
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.1"
     gene            1..5716
                     /gene="C7"
                     /note="complement C7"
                     /db_xref="GeneID:730"
                     /db_xref="HGNC:HGNC:1346"
                     /db_xref="MIM:217070"
     CDS             115..2646
                     /gene="C7"
                     /note="complement component C7; complement component 7"
                     /codon_start=1
                     /product="complement component C7 precursor"
                     /protein_id="NP_000578.2"
                     /db_xref="CCDS:CCDS47201.1"
                     /db_xref="GeneID:730"
                     /db_xref="HGNC:HGNC:1346"
                     /db_xref="MIM:217070"
                     /translation="MKVISLFILVGFIGEFQSFSSASSPVNCQWDFYAPWSECNGCTKT
                     QTRRRSVAVYGQYGGQPCVGNAFETQSCEPTRGCPTEEGCGERFRCFSGQCISKSLVCN
                     GDSDCDEDSADEDRCEDSERRPSCDIDKPPPNIELTGNGYNELTGQFRNRVINTKSFGG
                     QCRKVFSGDGKDFYRLSGNVLSYTFQVKINNDFNYEFYNSTWSYVKHTSTEHTSSSRKR
                     SFFRSSSSSSRSYTSHTNEIHKGKSYQLLVVENTVEVAQFINNNPEFLQLAEPFWKELS
                     HLPSLYDYSAYRRLIDQYGTHYLQSGSLGGEYRVLFYVDSEKLKQNDFNSVEEKKCKSS
                     GWHFVVKFSSHGCKELENALKAASGTQNNVLRGEPFIRGGGAGFISGLSYLELDNPAGN
                     KRRYSAWAESVTNLPQVIKQKLTPLYELVKEVPCASVKKLYLKWALEEYLDEFDPCHCR
                     PCQNGGLATVEGTHCLCHCKPYTFGAACEQGVLVGNQAGGVDGGWSCWSSWSPCVQGKK
                     TRSRECNNPPPSGGGRSCVGETTESTQCEDEELEHLRLLEPHCFPLSLVPTEFCPSPPA
                     LKDGFVQDEGTMFPVGKNVVYTCNEGYSLIGNPVARCGEDLRWLVGEMHCQKIACVLPV
                     LMDGIQSHPQKPFYTVGEKVTVSCSGGMSLEGPSAFLCGSSLKWSPEMKNARCVQKENP
                     LTQAVPKCQRWEKLQNSRCVCKMPYECGPSLDVCAQDERSKRILPLTVCKMHVLHCQGR
                     NYTLTGRDSCTLPASAEKACGACPLWGKCDAESSKCVCREASECEEEGFSICVEVNGKE
                     QTMSECEAGALRCRGQSISVTSIRPCAAETQ"
     sig_peptide     115..180
                     /gene="C7"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     181..2643
                     /gene="C7"
                     /product="Complement component C7. /id=PRO_0000023583"
                     /note="propagated from UniProtKB/Swiss-Prot (P10643.2)"
     misc_feature    220..222
                     /gene="C7"
                     /note="C-linked (Man) tryptophan.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P10643.2); glycosylation site"
     misc_feature    436..543
                     /gene="C7"
                     /note="propagated from UniProtKB/Swiss-Prot (P10643.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    718..720
                     /gene="C7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P10643.2); glycosylation site"
     misc_feature    769..834
                     /gene="C7"
                     /note="propagated from UniProtKB/Swiss-Prot (P10643.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1621..1623
                     /gene="C7"
                     /note="C-linked (Man) tryptophan, partial.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P10643.2); glycosylation site"
     misc_feature    1630..1632
                     /gene="C7"
                     /note="C-linked (Man) tryptophan, partial.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P10643.2); glycosylation site"
     misc_feature    1639..1641
                     /gene="C7"
                     /note="C-linked (Man) tryptophan, partial.
                     /evidence=ECO:0000269|PubMed:10551839; propagated from
                     UniProtKB/Swiss-Prot (P10643.2); glycosylation site"
     misc_feature    1660..1728
                     /gene="C7"
                     /note="propagated from UniProtKB/Swiss-Prot (P10643.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1747..1959
                     /gene="C7"
                     /note="propagated from UniProtKB/Swiss-Prot (P10643.2);
                     Region: CCP 1"
     misc_feature    1960..2193
                     /gene="C7"
                     /note="propagated from UniProtKB/Swiss-Prot (P10643.2);
                     Region: CCP 2"
     misc_feature    2197..2424
                     /gene="C7"
                     /note="propagated from UniProtKB/Swiss-Prot (P10643.2);
                     Region: Factor I module (FIM) 1"
     misc_feature    2200..2202
                     /gene="C7"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:22171320; propagated from
                     UniProtKB/Swiss-Prot (P10643.2); glycosylation site"
     misc_feature    2374..2376
                     /gene="C7"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19139490; propagated from
                     UniProtKB/Swiss-Prot (P10643.2); glycosylation site"
     misc_feature    2425..2643
                     /gene="C7"
                     /note="propagated from UniProtKB/Swiss-Prot (P10643.2);
                     Region: Factor I module (FIM) 2"
     regulatory      3990..3995
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C7"
                     /note="hexamer: ATTAAA"
     polyA_site      4012
                     /gene="C7"
                     /note="major polyA site"
     regulatory      4859..4864
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C7"
                     /note="hexamer: AATAAA"
     regulatory      4874..4879
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C7"
                     /note="hexamer: AATAAA"
     polyA_site      4879
                     /gene="C7"
     polyA_site      4895
                     /gene="C7"
     polyA_site      5716
                     /gene="C7"
ORIGIN
        1 agggagaggc agagaggcag gcagcctgct gggctcttcc tgctgttgaa aacttacccg
       61 gcccttacag aggaaatctt cctcctctct tctgccctga atgttttccc aaacatgaag
      121 gtgataagct tattcatttt ggtgggattt ataggagagt tccaaagttt ttcaagtgcc
      181 tcctctccag tcaactgcca gtgggacttc tatgcccctt ggtcagaatg caatggctgt
      241 accaagactc agactcgcag gcggtcagtt gctgtgtatg ggcagtatgg aggccagcct
      301 tgtgttggaa atgcttttga aacacagtcc tgtgaaccta caagaggatg tccaacagag
      361 gagggatgtg gagagcgttt caggtgcttt tcaggtcagt gcatcagcaa atcattggtt
      421 tgcaatgggg attctgactg tgatgaagac agtgctgatg aagacagatg tgaggactca
      481 gaaaggagac cttcctgtga tatcgataaa cctcctccta acatagaact tactggaaat
      541 ggttacaatg aactcactgg ccagtttagg aacagagtca tcaataccaa aagttttggt
      601 ggtcaatgta gaaaggtgtt tagtggggat ggaaaagatt tctacaggct gagtggaaat
      661 gtcctgtcct atacattcca ggtgaaaata aataatgatt ttaattatga attttacaat
      721 agtacttggt cttatgtaaa acatacgtcg acagaacaca catcatctag tcggaagcgc
      781 tcctttttta gatcttcatc atcttcttca cgcagttata cttcacatac caatgaaatc
      841 cataaaggaa agagttacca actgctggtt gttgagaaca ctgttgaagt ggctcagttc
      901 attaataaca atccagaatt tttacaactt gctgagccat tctggaagga gctttcccac
      961 ctcccctctc tgtatgacta cagtgcctac cgaagattaa tcgaccagta cgggacacat
     1021 tatctgcaat ctgggtcgtt aggaggagaa tacagagttc tattttatgt ggactcagaa
     1081 aaattaaaac aaaatgattt taattcagtc gaagaaaaga aatgtaaatc ctcaggttgg
     1141 cattttgtcg ttaaattttc aagtcatgga tgcaaggaac tggaaaacgc tttaaaagct
     1201 gcttcaggaa cccagaacaa tgtattgcga ggagaaccgt tcatcagagg gggaggtgca
     1261 ggcttcatat ctggccttag ttacctagag ctggacaatc ctgctggaaa caaaaggcga
     1321 tattctgcct gggcagaatc tgtgactaat cttcctcaag tcataaaaca aaagctgaca
     1381 cctttatatg agctggtaaa ggaagtacct tgtgcctctg tgaaaaaact atacctgaaa
     1441 tgggctcttg aagagtatct ggatgaattt gacccctgtc attgccggcc ttgtcaaaat
     1501 ggtggtttgg ctactgttga ggggacccat tgtctgtgcc attgcaaacc gtacacattt
     1561 ggtgcggcgt gtgagcaagg agtcctcgta gggaatcaag caggaggggt tgatggaggt
     1621 tggagttgct ggtcctcttg gagcccctgt gtccaaggga agaaaacaag aagccgtgaa
     1681 tgcaataacc cacctcccag tgggggtggg agatcctgcg ttggagaaac gacagaaagc
     1741 acacaatgcg aagatgagga gctggagcac ttgaggttgc ttgaaccaca ttgctttcct
     1801 ttgtctttgg ttccaacaga attctgtcca tcacctcctg ccttgaaaga tggatttgtt
     1861 caagatgaag gtacaatgtt tcctgtgggg aaaaatgtag tgtacacttg caatgaagga
     1921 tactctctta ttggaaaccc agtggccaga tgtggagaag atttacggtg gcttgttggg
     1981 gaaatgcatt gtcagaaaat tgcctgtgtt ctacctgtac tgatggatgg catacagagt
     2041 cacccccaaa aacctttcta cacagttggt gagaaggtga ctgtttcctg ttcaggtggc
     2101 atgtccttag aaggtccttc agcatttctc tgtggctcca gccttaagtg gagtcctgag
     2161 atgaagaatg cccgctgtgt acaaaaagaa aatccgttaa cacaggcagt gcctaaatgt
     2221 cagcgctggg agaaactgca gaattcaaga tgtgtttgta aaatgcccta cgaatgtgga
     2281 ccttccttgg atgtatgtgc tcaagatgag agaagcaaaa ggatactgcc tctgacagtt
     2341 tgcaagatgc atgttctcca ctgtcagggt agaaattaca cccttactgg tagggacagc
     2401 tgtactctgc ctgcctcagc tgagaaagct tgtggtgcct gcccactgtg gggaaaatgt
     2461 gatgctgaga gcagcaaatg tgtctgccga gaagcatcgg agtgcgagga agaagggttt
     2521 agcatttgtg tggaagtgaa cggcaaggag cagacgatgt ctgagtgtga ggcgggcgct
     2581 ctgagatgca gagggcagag catctctgtc accagcataa ggccttgtgc tgcggaaacc
     2641 cagtaggctc ctggaggccc tggtcagctt gcttggaatc cagcaggcag ctggggctga
     2701 gtgaaaacat ctgcacaact gggcactgga cagcttttcc ttcttctcca gtgtctacct
     2761 tcctcctcaa ctcccagcca tctgtataaa cacaatcctt tgttctccca aatctgaatc
     2821 gaattactct tttgcctcct ttttaatgtc agtaaggata tgagcctttg cacaggctgg
     2881 ctgcgtgttc ttgaaatagg tgttaccttc tctgggcctt ggttttttaa aatctgtaaa
     2941 attagaggat tgcactagag aaacttgaat gctccattca ggcctatcat tttattaagt
     3001 atgattgaca cagcccatgg gccagaacac actctacaaa atgactagga taacagaaag
     3061 aacgtgatct cctgattaga gagggtggtt ttcctcaatg gaaccaaata taaagaggac
     3121 ttgaacaaaa atgacagata caaactattt ctatcctgag tagtaatctc acacttcatc
     3181 ctatagagtc aaccaccaca gataggaatt ccttattctt tttttaattt ttttaagaca
     3241 gagtctcact ttgttgccca ggctggagcg cagtggggtg atctcatctc cctgcaacct
     3301 ccgcctcctg ggttcaagcg attcttgtgc ctcagcttcc caagcagctg ggattacagg
     3361 tgcccgccac cacgcccagc taatttttgc atttttagta gagatggggt ttcaccatgt
     3421 tggccacgct cgtctccaac tcctgacctc aggtaatccg cctgccttgg cctcccaaag
     3481 tgctgggatt acagacatga accaccacgc ctggctggaa tacttactct tgtcgggaga
     3541 ttgaaccact aaaatgttag agcagaattc attatgctgt ggtcacaggg gtgtcttgtc
     3601 tgagaacaaa tacaattcag tcttctcttt ggggttttag tatgtgtcaa acataggact
     3661 ggaagtttgc ccctgttctt ttttcttttg aaagaacatc agttcatgcc tgaggcatga
     3721 gtgactgtgc atttgagaat agttttccct attctgtgga tacagtccca gagttttcag
     3781 ggagtacaca ggtagattag tttgaagcat tgacctttta tttattcctt atttctcttt
     3841 catcaaaaca aaacagcagc tgtgggagga gaaatgagag ggcttaaatg aaatttaaaa
     3901 taagctatat tatacaaata ctatctctgt attgttctga ccctggtaaa tatatttcaa
     3961 aacttcagat gacaaggatt agaacactca ttaaagatgc tattcttcag aattgtttca
     4021 tttgtatgat gtttcatttt agagaagatt ttcatgatga atggttaatg tgttcttgcc
     4081 tgaagtttta tgtctgatcc agatctagct ttttgtatca aagtgtgccc taagggaaga
     4141 tgcagatata atatgttgaa gttacaagga ggcaggtttc aattggttaa aaacaatgac
     4201 attcagacat tgcaactgca tttgttagcg gttattacag agttaatttc taccctggat
     4261 gggaggacac atttgaacat gctaggcctg gatgcagacc ctgagacaaa aggttgaaca
     4321 agtaattcat ttggaaggaa atacctcagt atccttccaa taatttctcc tcttagctta
     4381 agctagtatg gagttagatt cctaccgctt atgtatcacc atgccccctt cctaaataat
     4441 acagaggata tggtcagcat tatcacatat catcagagat tgaggtttga aagaaaggaa
     4501 atgagtagat gtaactaaga ggtttgagaa aggaatttca gcagagttat tgaaggagaa
     4561 gtcaaggaga ggagaaggag aggagcagtg aatgttgtcg tgaagaggtg ttgtcttgaa
     4621 atactgtatt tttttcctcc ttttcttttc tgaacattct tgtgctgacc tttcctctag
     4681 tccaacagag gcattcacaa ttgcctgtgg agaattagga ttgtcgcagc aggtcagcaa
     4741 ggagaaagtc atttttaaga ttaaattttt aaaaatgttt tgaaacttcc aaaataagtt
     4801 cttgaacacc tatggagagg ctttgaggaa agttaaggga atgattttat accacaaaaa
     4861 taaatggaaa aagaataaag actgtgagaa ttccatcttc ctgccctttc ctgtgcctca
     4921 gatcaggtga gggtcatctg ggttagaagg ggatagagcc ttggaggagg cagagggcag
     4981 aaagcattgc tgagattaga gtcatttggc cctcagaagg aacagacaaa gagaaggaaa
     5041 ttggctggtg cattaatcat cactagcttc agggagctat gtggaggcca aggcacatcc
     5101 tacagatcat cgcttaccac tcatgaggac gctacaagtt acctgggcag agaaggtgcc
     5161 tgagaatatt tcctaatcgt tttgagaagt gccttcctgt gacatcttat gtatttccta
     5221 attgatcaaa agtagtgctg cttctctaag ccctgagatt taatgagccc cattcaaact
     5281 gttattaatg taaccttctt tcccagtgca ggatgacttg taatcacctt gaaagagaag
     5341 gagggttctt cgtattcagg tagggtatgg tagggatgtg gagtgccaag caggaaatct
     5401 gacaagtgac ccccggaact ttggattacc tagcaactag ccaggtaact ggctaatctg
     5461 attgagggtt gccctctttg ctgggcagat catggctaat ctcagcttca catgagtctt
     5521 gtgaaccatc tagttgtttt gtaactgcta agagctgcaa gtgctgagca gctggtttat
     5581 acagcattcc ctgaaacagc ctagtatgtg tccatttatg tgcccggctt attatgtgtc
     5641 cacttatgtg tccaattagt aatcactttt tctttcggtc aaggtatgtg tattaatcaa
     5701 tattttttga acccgt
//
LOCUS       NM_000588                924 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens interleukin 3 (IL3), mRNA.
ACCESSION   NM_000588
VERSION     NM_000588.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 924)
  AUTHORS   Panwar R, Shekhawat RS, Shukla KK, Rao M, Rathore M and Kanchan T.
  TITLE     Quantitative estimation of TNF-alpha and IL-3 by using ELISA from
            human lung tissue in fatal asphyxial deaths
  JOURNAL   J Forensic Leg Med 98, 102559 (2023)
   PUBMED   37453342
  REMARK    GeneRIF: Quantitative estimation of TNF-alpha and IL-3 by using
            ELISA from human lung tissue in fatal asphyxial deaths.
REFERENCE   2  (bases 1 to 924)
  AUTHORS   Kiss MG, Mindur JE, Yates AG, Lee D, Fullard JF, Anzai A, Poller WC,
            Christie KA, Iwamoto Y, Roudko V, Downey J, Chan CT, Huynh P,
            Janssen H, Ntranos A, Hoffmann JD, Jacob W, Goswami S, Singh S,
            Leppert D, Kuhle J, Kim-Schulze S, Nahrendorf M, Kleinstiver BP,
            Probert F, Roussos P, Swirski FK and McAlpine CS.
  TITLE     Interleukin-3 coordinates glial-peripheral immune crosstalk to
            incite multiple sclerosis
  JOURNAL   Immunity 56 (7), 1502-1514 (2023)
   PUBMED   37160117
  REMARK    GeneRIF: Interleukin-3 coordinates glial-peripheral immune crosstalk
            to incite multiple sclerosis.
REFERENCE   3  (bases 1 to 924)
  AUTHORS   Fogha J, de Brevern AG and Diharce J.
  TITLE     Conformational and binding mode assessment of the human IL-3
            recognition by its alpha receptor
  JOURNAL   Proteins 91 (7), 904-919 (2023)
   PUBMED   36729088
  REMARK    GeneRIF: Conformational and binding mode assessment of the human
            IL-3 recognition by its alpha receptor.
REFERENCE   4  (bases 1 to 924)
  AUTHORS   Benard A, Hansen FJ, Uhle F, Klosch B, Czubayko F, Mittelstadt A,
            Jacobsen A, David P, Podolska MJ, Anthuber A, Swierzy I, Schaack D,
            Muhl-Zurbes P, Steinkasserer A, Weyand M, Weigand MA, Brenner T,
            Krautz C, Grutzmann R and Weber GF.
  TITLE     Interleukin-3 protects against viral pneumonia in sepsis by
            enhancing plasmacytoid dendritic cell recruitment into the lungs and
            T cell priming
  JOURNAL   Front Immunol 14, 1140630 (2023)
   PUBMED   36911737
  REMARK    GeneRIF: Interleukin-3 protects against viral pneumonia in sepsis by
            enhancing plasmacytoid dendritic cell recruitment into the lungs and
            T cell priming. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 924)
  AUTHORS   Krammer S, Yang Z, Zimmermann T, Xepapadaki P, Geppert CI,
            Papadopoulos NG and Finotto S.
  TITLE     An Immunoregulatory Role of Interleukin-3 in Allergic Asthma
  JOURNAL   Front Immunol 13, 821658 (2022)
   PUBMED   35281014
  REMARK    GeneRIF: An Immunoregulatory Role of Interleukin-3 in Allergic
            Asthma. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 924)
  AUTHORS   Kitamura T, Sato N, Arai K and Miyajima A.
  TITLE     Expression cloning of the human IL-3 receptor cDNA reveals a shared
            beta subunit for the human IL-3 and GM-CSF receptors
  JOURNAL   Cell 66 (6), 1165-1174 (1991)
   PUBMED   1833064
REFERENCE   7  (bases 1 to 924)
  AUTHORS   Wagemaker G, Burger H, van Gils FC, van Leen RW and Wielenga JJ.
  TITLE     Interleukin-3
  JOURNAL   Biotherapy 2 (4), 337-345 (1990)
   PUBMED   2268499
  REMARK    Review article
REFERENCE   8  (bases 1 to 924)
  AUTHORS   Urdal DL, Price V, Sassenfeld HM, Cosman D, Gillis S and Park LS.
  TITLE     Molecular characterization of colony-stimulating factors and their
            receptors: human interleukin-3
  JOURNAL   Ann N Y Acad Sci 554, 167-176 (1989)
   PUBMED   2544122
REFERENCE   9  (bases 1 to 924)
  AUTHORS   Otsuka T, Miyajima A, Brown N, Otsu K, Abrams J, Saeland S, Caux C,
            de Waal Malefijt R, de Vries J, Meyerson P et al.
  TITLE     Isolation and characterization of an expressible cDNA encoding human
            IL-3. Induction of IL-3 mRNA in human T cell clones
  JOURNAL   J Immunol 140 (7), 2288-2295 (1988)
   PUBMED   3127463
REFERENCE   10  (bases 1 to 924)
  AUTHORS   Yang,Y.C., Ciarletta,A.B., Temple,P.A., Chung,M.P., Kovacic,S.,
            Witek-Giannotti,J.S., Leary,A.C., Kriz,R., Donahue,R.E., Wong,G.G.
            et al.
  TITLE     Human IL-3 (multi-CSF): identification by expression cloning of a
            novel hematopoietic growth factor related to murine IL-3
  JOURNAL   Cell 47 (1), 3-10 (1986)
   PUBMED   3489530
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M17115.1, M20137.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2155628
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000296870.3/ ENSP00000296870.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC034228.6.
            On May 17, 2019 this sequence version replaced NM_000588.3.
            Summary: The protein encoded by this gene is a potent growth
            promoting cytokine. This cytokine is capable of supporting the
            proliferation of a broad range of hematopoietic cell types. It is
            involved in a variety of cell activities such as cell growth,
            differentiation and apoptosis. This cytokine has been shown to also
            possess neurotrophic activity, and it may be associated with
            neurologic disorders. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..924
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..924
                     /gene="IL3"
                     /gene_synonym="IL-3; MCGF; MULTI-CSF"
                     /note="interleukin 3"
                     /db_xref="GeneID:3562"
                     /db_xref="HGNC:HGNC:6011"
                     /db_xref="MIM:147740"
     CDS             53..511
                     /gene="IL3"
                     /gene_synonym="IL-3; MCGF; MULTI-CSF"
                     /note="hematopoietic growth factor; P-cell stimulating
                     factor; mast-cell growth factor;
                     multilineage-colony-stimulating factor; multipotential
                     colony-stimulating factor; colony-stimulating factor,
                     multiple"
                     /codon_start=1
                     /product="interleukin-3 precursor"
                     /protein_id="NP_000579.2"
                     /db_xref="CCDS:CCDS4149.1"
                     /db_xref="GeneID:3562"
                     /db_xref="HGNC:HGNC:6011"
                     /db_xref="MIM:147740"
                     /translation="MSRLPVLLLLQLLVRPGLQAPMTQTTPLKTSWVNCSNMIDEIITH
                     LKQPPLPLLDFNNLNGEDQDILMENNLRRPNLEAFNRAVKSLQNASAIESILKNLLPCL
                     PLATAAPTRHPIHIKDGDWNEFRRKLTFYLKTLENAQAQQTTLSLAIF"
     sig_peptide     53..109
                     /gene="IL3"
                     /gene_synonym="IL-3; MCGF; MULTI-CSF"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     110..508
                     /gene="IL3"
                     /gene_synonym="IL-3; MCGF; MULTI-CSF"
                     /product="interleukin-3"
     misc_feature    152..154
                     /gene="IL3"
                     /gene_synonym="IL-3; MCGF; MULTI-CSF"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08700.2); glycosylation site"
     misc_feature    317..319
                     /gene="IL3"
                     /gene_synonym="IL-3; MCGF; MULTI-CSF"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08700.2); glycosylation site"
ORIGIN
        1 agagccccac gaaggaccag aacaagacag agtgcctcct gccgatccaa acatgagccg
       61 cctgcccgtc ctgctcctgc tccaactcct ggtccgcccc ggactccaag ctcccatgac
      121 ccagacaacg cccttgaaga caagctgggt taactgctct aacatgatcg atgaaattat
      181 aacacactta aagcagccac ctttgccttt gctggacttc aacaacctca atggggaaga
      241 ccaagacatt ctgatggaaa ataaccttcg aaggccaaac ctggaggcat tcaacagggc
      301 tgtcaagagt ttacagaacg catcagcaat tgagagcatt cttaaaaatc tcctgccatg
      361 tctgcccctg gccacggccg cacccacgcg acatccaatc catatcaagg acggtgactg
      421 gaatgaattc cggaggaaac tgacgttcta tctgaaaacc cttgagaatg cgcaggctca
      481 acagacgact ttgagcctcg cgatcttttg agtccaacgt ccagctcgtt ctctgggcct
      541 tctcaccaca gagcctcggg acatcaaaaa cagcagaact tctgaaacct ctgggtcatc
      601 tctcacacat tccaggacca gaagcatttc accttttcct gcggcatcag atgaattgtt
      661 aattatctaa tttctgaaat gtgcagctcc catttggcct tgtgcggttg tgttctcatt
      721 tttatcccat tgagactatt tatttatgta tgtatgtatt tatttattta ttgcctggag
      781 tgtgaactgt atttatttta gcagaggagc catgtcctgc tgcttctgca aaaaactcag
      841 agtggggtgg ggagcatgtt catttgtacc tcgagtttta aactggttcc tagggatgtg
      901 tgagaataaa ctagactctg aaca
//
LOCUS       NM_000589                615 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens interleukin 4 (IL4), transcript variant 1, mRNA.
ACCESSION   NM_000589
VERSION     NM_000589.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 615)
  AUTHORS   Huang ZR, Ge M, Pang XR, Song P and Wang C.
  TITLE     The spatial distribution of interleukin-4 (IL-4) reference values in
            China based on a back propagation (BP) neural network
  JOURNAL   Geospat Health 18 (2) (2023)
   PUBMED   37702739
  REMARK    GeneRIF: The spatial distribution of interleukin-4 (IL-4) reference
            values in China based on a back propagation (BP) neural network.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 615)
  AUTHORS   Zhang Y, Wu G, Yang Y, Niu L and Zhao Y.
  TITLE     Interleukin-4 Promotes Human Metapneumovirus Replication Through the
            JAK/STAT6 Pathway
  JOURNAL   Viral Immunol 36 (7), 449-457 (2023)
   PUBMED   37406292
  REMARK    GeneRIF: Interleukin-4 Promotes Human Metapneumovirus Replication
            Through the JAK/STAT6 Pathway.
REFERENCE   3  (bases 1 to 615)
  AUTHORS   Zhen L, Sun Y and Gao J.
  TITLE     Interleukin 4 gene polymorphisms and the risk of tuberculosis: A
            meta-analysis
  JOURNAL   Cytokine 169, 156282 (2023)
   PUBMED   37364407
  REMARK    GeneRIF: Interleukin 4 gene polymorphisms and the risk of
            tuberculosis: A meta-analysis.
REFERENCE   4  (bases 1 to 615)
  AUTHORS   Chakma CR and Good-Jacobson KL.
  TITLE     Requirements of IL-4 during the Generation of B Cell Memory
  JOURNAL   J Immunol 210 (12), 1853-1860 (2023)
   PUBMED   37276051
  REMARK    GeneRIF: Requirements of IL-4 during the Generation of B Cell
            Memory. Review article
REFERENCE   5  (bases 1 to 615)
  AUTHORS   Lu L, Hu X and Jin X.
  TITLE     IL-4 as a potential biomarker for differentiating major depressive
            disorder from bipolar depression
  JOURNAL   Medicine (Baltimore) 102 (15), e33439 (2023)
   PUBMED   37058046
  REMARK    GeneRIF: IL-4 as a potential biomarker for differentiating major
            depressive disorder from bipolar depression.
REFERENCE   6  (bases 1 to 615)
  AUTHORS   Walter MR, Cook WJ, Zhao BG, Cameron RP Jr, Ealick SE, Walter RL Jr,
            Reichert P, Nagabhushan TL, Trotta PP and Bugg CE.
  TITLE     Crystal structure of recombinant human interleukin-4
  JOURNAL   J Biol Chem 267 (28), 20371-20376 (1992)
   PUBMED   1400355
REFERENCE   7  (bases 1 to 615)
  AUTHORS   Wlodawer A, Pavlovsky A and Gustchina A.
  TITLE     Crystal structure of human recombinant interleukin-4 at 2.25 A
            resolution
  JOURNAL   FEBS Lett 309 (1), 59-64 (1992)
   PUBMED   1511746
  REMARK    Erratum:[FEBS Lett. 2006 May 29;580(13):3340. Wlodaver, A [corrected
            to Wlodawer, A]]
REFERENCE   8  (bases 1 to 615)
  AUTHORS   Garrett DS, Powers R, March CJ, Frieden EA, Clore GM and Gronenborn
            AM.
  TITLE     Determination of the secondary structure and folding topology of
            human interleukin-4 using three-dimensional heteronuclear magnetic
            resonance spectroscopy
  JOURNAL   Biochemistry 31 (17), 4347-4353 (1992)
   PUBMED   1567881
REFERENCE   9  (bases 1 to 615)
  AUTHORS   Powers R, Garrett DS, March CJ, Frieden EA, Gronenborn AM and Clore
            GM.
  TITLE     1H, 15N, 13C, and 13CO assignments of human interleukin-4 using
            three-dimensional double- and triple-resonance heteronuclear
            magnetic resonance spectroscopy
  JOURNAL   Biochemistry 31 (17), 4334-4346 (1992)
   PUBMED   1567880
REFERENCE   10  (bases 1 to 615)
  AUTHORS   Milne,L.J. and Crompton,G.K.
  TITLE     Oropharyngeal thrush and beclomethasone dipropionate
  JOURNAL   Postgrad Med J 51 Suppl 4, 53 (1975)
   PUBMED   1197194
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC070123.1, M13982.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related         :: relevant for disease process
            MANE Ensembl match          :: ENST00000231449.7/ ENSP00000231449.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC067514.1, M13982.1 and
            CD640452.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000589.3.
            Summary: The protein encoded by this gene is a pleiotropic cytokine
            produced by activated T cells. This cytokine is a ligand for
            interleukin 4 receptor. The interleukin 4 receptor also binds to
            IL13, which may contribute to many overlapping functions of this
            cytokine and IL13. STAT6, a signal transducer and activator of
            transcription, has been shown to play a central role in mediating
            the immune regulatory signal of this cytokine. This gene, IL3, IL5,
            IL13, and CSF2 form a cytokine gene cluster on chromosome 5q, with
            this gene particularly close to IL13. This gene, IL13 and IL5 are
            found to be regulated coordinately by several long-range regulatory
            elements in an over 120 kilobase range on the chromosome. IL4 is
            considered an important cytokine for tissue repair,
            counterbalancing the effects of proinflammatory type 1 cytokines,
            however, it also promotes allergic airway inflammation. Moreover,
            IL-4, a type 2 cytokine, mediates and regulates a variety of human
            host responses such as allergic, anti-parasitic, wound healing, and
            acute inflammation. This cytokine has been reported to promote
            resolution of neutrophil-mediated acute lung injury. In an allergic
            response, IL-4 has an essential role in the production of
            allergen-specific immunoglobin (Ig) E. This pro-inflammatory
            cytokine has been observed to be increased in COVID-19 (Coronavirus
            disease 2019) patients, but is not necessarily associated with
            severe COVID-19 pathology. Two alternatively spliced transcript
            variants of this gene encoding distinct isoforms have been
            reported. [provided by RefSeq, Aug 2020].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..615
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..615
                     /gene="IL4"
                     /gene_synonym="BCGF-1; BCGF1; BSF-1; BSF1; IL-4"
                     /note="interleukin 4"
                     /db_xref="GeneID:3565"
                     /db_xref="HGNC:HGNC:6014"
                     /db_xref="MIM:147780"
     misc_feature    24..26
                     /gene="IL4"
                     /gene_synonym="BCGF-1; BCGF1; BSF-1; BSF1; IL-4"
                     /note="upstream in-frame stop codon"
     CDS             63..524
                     /gene="IL4"
                     /gene_synonym="BCGF-1; BCGF1; BSF-1; BSF1; IL-4"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; B cell growth factor 1; B_cell stimulatory factor 1;
                     lymphocyte stimulatory factor 1; binetrakin; pitrakinra"
                     /codon_start=1
                     /product="interleukin-4 isoform 1 precursor"
                     /protein_id="NP_000580.1"
                     /db_xref="CCDS:CCDS4158.1"
                     /db_xref="GeneID:3565"
                     /db_xref="HGNC:HGNC:6014"
                     /db_xref="MIM:147780"
                     /translation="MGLTSQLLPPLFFLLACAGNFVHGHKCDITLQEIIKTLNSLTEQK
                     TLCTELTVTDIFAASKNTTEKETFCRAATVLRQFYSHHEKDTRCLGATAQQFHRHKQLI
                     RFLKRLDRNLWGLAGLNSCPVKEANQSTLENFLERLKTIMREKYSKCSS"
     sig_peptide     63..134
                     /gene="IL4"
                     /gene_synonym="BCGF-1; BCGF1; BSF-1; BSF1; IL-4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     135..521
                     /gene="IL4"
                     /gene_synonym="BCGF-1; BCGF1; BSF-1; BSF1; IL-4"
                     /product="Interleukin-4. /id=PRO_0000015532"
                     /note="propagated from UniProtKB/Swiss-Prot (P05112.1)"
     misc_feature    246..248
                     /gene="IL4"
                     /gene_synonym="BCGF-1; BCGF1; BSF-1; BSF1; IL-4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:1993171; propagated from
                     UniProtKB/Swiss-Prot (P05112.1); glycosylation site"
     regulatory      593..598
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL4"
                     /gene_synonym="BCGF-1; BCGF1; BSF-1; BSF1; IL-4"
                     /note="hexamer: AATAAA"
     polyA_site      615
                     /gene="IL4"
                     /gene_synonym="BCGF-1; BCGF1; BSF-1; BSF1; IL-4"
                     /note="major polyA site"
ORIGIN
        1 atcgttagct tctcctgata aactaattgc ctcacattgt cactgcaaat cgacacctat
       61 taatgggtct cacctcccaa ctgcttcccc ctctgttctt cctgctagca tgtgccggca
      121 actttgtcca cggacacaag tgcgatatca ccttacagga gatcatcaaa actttgaaca
      181 gcctcacaga gcagaagact ctgtgcaccg agttgaccgt aacagacatc tttgctgcct
      241 ccaagaacac aactgagaag gaaaccttct gcagggctgc gactgtgctc cggcagttct
      301 acagccacca tgagaaggac actcgctgcc tgggtgcgac tgcacagcag ttccacaggc
      361 acaagcagct gatccgattc ctgaaacggc tcgacaggaa cctctggggc ctggcgggct
      421 tgaattcctg tcctgtgaag gaagccaacc agagtacgtt ggaaaacttc ttggaaaggc
      481 taaagacgat catgagagag aaatattcaa agtgttcgag ctgaatattt taatttatga
      541 gtttttgata gctttatttt ttaagtattt atatatttat aactcatcat aaaataaagt
      601 atatatagaa tctaa
//
LOCUS       NM_000590                605 bp    mRNA    linear   PRI 11-JUN-2023
DEFINITION  Homo sapiens interleukin 9 (IL9), mRNA.
ACCESSION   NM_000590
VERSION     NM_000590.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 605)
  AUTHORS   Munoz-Paleta O and Licona-Limon P.
  TITLE     JAKing up IL-9 expression in TH9 cells
  JOURNAL   Nat Immunol 24 (6), 891-892 (2023)
   PUBMED   37142770
  REMARK    GeneRIF: JAKing up IL-9 expression in TH9 cells.
REFERENCE   2  (bases 1 to 605)
  AUTHORS   Ohtsuki S, Wang C, Watanabe R, Zhang H, Akiyama M, Bois MC,
            Maleszewski JJ, Warrington KJ, Berry GJ, Goronzy JJ and Weyand CM.
  TITLE     Deficiency of the CD155-CD96 immune checkpoint controls IL-9
            production in giant cell arteritis
  JOURNAL   Cell Rep Med 4 (4), 101012 (2023)
   PUBMED   37075705
  REMARK    GeneRIF: Deficiency of the CD155-CD96 immune checkpoint controls
            IL-9 production in giant cell arteritis.
REFERENCE   3  (bases 1 to 605)
  AUTHORS   Kharwadkar R, Ulrich BJ, Chu M, Koh B, Hufford MM, Fu Y, Birdsey GM,
            Porse BT, Randi AM and Kaplan MH.
  TITLE     ERG Functionally Overlaps with Other Ets Proteins in Promoting TH9
            Cell Expression of Il9 during Allergic Lung Inflammation
  JOURNAL   J Immunol 210 (5), 537-546 (2023)
   PUBMED   36637217
  REMARK    GeneRIF: ERG Functionally Overlaps with Other Ets Proteins in
            Promoting TH9 Cell Expression of Il9 during Allergic Lung
            Inflammation.
REFERENCE   4  (bases 1 to 605)
  AUTHORS   Ndoricyimpaye EL, Van Snick J, Niyoyita JD, Kanimba P, Mbonimpa JB,
            Rutayisire R, Rutayisire R, Ndahindwa V, Cheou P, Coutelier JP and
            Rujeni N.
  TITLE     Integrated Analysis of Cytokine Profiles in Malaria Patients
            Discloses Selective Upregulation of TGF-beta1, beta3, and IL-9 in
            Mild Clinical Presentation
  JOURNAL   Int J Mol Sci 23 (20), 12665 (2022)
   PUBMED   36293524
  REMARK    GeneRIF: Integrated Analysis of Cytokine Profiles in Malaria
            Patients Discloses Selective Upregulation of TGF-beta1, beta3, and
            IL-9 in Mild Clinical Presentation. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 605)
  AUTHORS   Jehn LB, Costabel U, Boerner E, Wessendorf TE, Theegarten D, Taube C
            and Bonella F.
  TITLE     IL-9 and IL-9 receptor expression in lymphocytes from
            bronchoalveolar lavage fluid of patients with interstitial lung
            disease
  JOURNAL   Immunobiology 227 (5), 152258 (2022)
   PUBMED   35998415
  REMARK    GeneRIF: IL-9 and IL-9 receptor expression in lymphocytes from
            bronchoalveolar lavage fluid of patients with interstitial lung
            disease.
REFERENCE   6  (bases 1 to 605)
  AUTHORS   Merz H, Houssiau FA, Orscheschek K, Renauld JC, Fliedner A, Herin M,
            Noel H, Kadin M, Mueller-Hermelink HK, Van Snick J et al.
  TITLE     Interleukin-9 expression in human malignant lymphomas: unique
            association with Hodgkin's disease and large cell anaplastic
            lymphoma
  JOURNAL   Blood 78 (5), 1311-1317 (1991)
   PUBMED   1908723
REFERENCE   7  (bases 1 to 605)
  AUTHORS   Kelleher K, Bean K, Clark SC, Leung WY, Yang-Feng TL, Chen JW, Lin
            PF, Luo W and Yang YC.
  TITLE     Human interleukin-9: genomic sequence, chromosomal location, and
            sequences essential for its expression in human T-cell leukemia
            virus (HTLV)-I-transformed human T cells
  JOURNAL   Blood 77 (7), 1436-1441 (1991)
   PUBMED   1901233
REFERENCE   8  (bases 1 to 605)
  AUTHORS   Modi WS, Pollock DD, Mock BA, Banner C, Renauld JC and Van Snick J.
  TITLE     Regional localization of the human glutaminase (GLS) and
            interleukin-9 (IL9) genes by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 57 (2-3), 114-116 (1991)
   PUBMED   1680606
REFERENCE   9  (bases 1 to 605)
  AUTHORS   Renauld JC, Goethals A, Houssiau F, Merz H, Van Roost E and Van
            Snick J.
  TITLE     Human P40/IL-9. Expression in activated CD4+ T cells, genomic
            organization, and comparison with the mouse gene
  JOURNAL   J Immunol 144 (11), 4235-4241 (1990)
   PUBMED   1971295
REFERENCE   10  (bases 1 to 605)
  AUTHORS   Renauld JC, Goethals A, Houssiau F, Van Roost E and Van Snick J.
  TITLE     Cloning and expression of a cDNA for the human homolog of mouse T
            cell and mast cell growth factor P40
  JOURNAL   Cytokine 2 (1), 9-12 (1990)
   PUBMED   2129501
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: S63356.1, M30134.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000274520.2/ ENSP00000274520.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC002428.1 and S63356.1.
            On May 17, 2019 this sequence version replaced NM_000590.1.
            Summary: The protein encoded by this gene is a cytokine that acts
            as a regulator of a variety of hematopoietic cells. This cytokine
            stimulates cell proliferation and prevents apoptosis. It functions
            through the interleukin 9 receptor (IL9R), which activates
            different signal transducer and activator (STAT) proteins and thus
            connects this cytokine to various biological processes. The gene
            encoding this cytokine has been identified as a candidate gene for
            asthma. Genetic studies on a mouse model of asthma demonstrated
            that this cytokine is a determining factor in the pathogenesis of
            bronchial hyperresponsiveness. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..605
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..605
                     /gene="IL9"
                     /gene_synonym="HP40; IL-9; P40"
                     /note="interleukin 9"
                     /db_xref="GeneID:3578"
                     /db_xref="HGNC:HGNC:6029"
                     /db_xref="MIM:146931"
     CDS             26..460
                     /gene="IL9"
                     /gene_synonym="HP40; IL-9; P40"
                     /note="p40 T-cell and mast cell growth factor; T-cell
                     growth factor p40; p40 cytokine; homolog of mouse T cell
                     and mast cell growth factor 40; cytokine P40"
                     /codon_start=1
                     /product="interleukin-9 precursor"
                     /protein_id="NP_000581.1"
                     /db_xref="CCDS:CCDS4189.1"
                     /db_xref="GeneID:3578"
                     /db_xref="HGNC:HGNC:6029"
                     /db_xref="MIM:146931"
                     /translation="MLLAMVLTSALLLCSVAGQGCPTLAGILDINFLINKMQEDPASKC
                     HCSANVTSCLCLGIPSDNCTRPCFSERLSQMTNTTMQTRYPLIFSRVKKSVEVLKNNKC
                     PYFSCEQPCNQTTAGNALTFLKSLLEIFQKEKMRGMRGKI"
     sig_peptide     26..79
                     /gene="IL9"
                     /gene_synonym="HP40; IL-9; P40"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     80..457
                     /gene="IL9"
                     /gene_synonym="HP40; IL-9; P40"
                     /product="interleukin-9"
     misc_feature    80..82
                     /gene="IL9"
                     /gene_synonym="HP40; IL-9; P40"
                     /note="Pyrrolidone carboxylic acid.
                     /evidence=ECO:0000250|UniProtKB:P15247; propagated from
                     UniProtKB/Swiss-Prot (P15248.1);
                     pyrrolidone-carboxylic-acid site"
     misc_feature    173..175
                     /gene="IL9"
                     /gene_synonym="HP40; IL-9; P40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P15248.1); glycosylation site"
     misc_feature    212..214
                     /gene="IL9"
                     /gene_synonym="HP40; IL-9; P40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P15248.1); glycosylation site"
     misc_feature    257..259
                     /gene="IL9"
                     /gene_synonym="HP40; IL-9; P40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P15248.1); glycosylation site"
     misc_feature    365..367
                     /gene="IL9"
                     /gene_synonym="HP40; IL-9; P40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P15248.1); glycosylation site"
ORIGIN
        1 aagcgagctc cagtccgctg tcaagatgct tctggccatg gtccttacct ctgccctgct
       61 cctgtgctcc gtggcaggcc aggggtgtcc aaccttggcg gggatcctgg acatcaactt
      121 cctcatcaac aagatgcagg aagatccagc ttccaagtgc cactgcagtg ctaatgtgac
      181 cagttgtctc tgtttgggca ttccctctga caactgcacc agaccatgct tcagtgagag
      241 actgtctcag atgaccaata ccaccatgca aacaagatac ccactgattt tcagtcgggt
      301 gaaaaaatca gttgaagtac taaagaacaa caagtgtcca tatttttcct gtgaacagcc
      361 atgcaaccaa accacggcag gcaacgcgct gacatttctg aagagtcttc tggaaatttt
      421 ccagaaagaa aagatgagag ggatgagagg caagatatga agatgaaata ttatttatcc
      481 tatttattaa atttaaaaag ctttctcttt aagttgctac aatttaaaaa tcaagtaagc
      541 tactctaaat cagtatcagt tgtgattatt tgtttaacat tgtatgtctt tattttgaaa
      601 taaat
//
LOCUS       NM_000591               1356 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.
ACCESSION   NM_000591
VERSION     NM_000591.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1356)
  AUTHORS   Oboh-Imafidon MA, Torbit SM, Jacob S, Schroeter MN, Tucker AR,
            Ojurongbe O and Thomas BN.
  TITLE     Severity of Schistosoma haematobium co-infection with malaria in
            school-children is potentially modulated by host CD14 gene variants
  JOURNAL   BMC Res Notes 16 (1), 199 (2023)
   PUBMED   37684680
  REMARK    GeneRIF: Severity of Schistosoma haematobium co-infection with
            malaria in school-children is potentially modulated by host CD14
            gene variants. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1356)
  AUTHORS   Bjerkhaug AU, Granslo HN, Cavanagh JP, Hoiland I, Ludviksen JK, Lau
            C, Espevik T, Mollnes TE and Klingenberg C.
  TITLE     Dual inhibition of complement C5 and CD14 attenuates inflammation in
            a cord blood model
  JOURNAL   Pediatr Res 94 (2), 512-519 (2023)
   PUBMED   36725909
  REMARK    GeneRIF: Dual inhibition of complement C5 and CD14 attenuates
            inflammation in a cord blood model.
REFERENCE   3  (bases 1 to 1356)
  AUTHORS   Sharygin D, Koniaris LG, Wells C, Zimmers TA and Hamidi T.
  TITLE     Role of CD14 in human disease
  JOURNAL   Immunology 169 (3), 260-270 (2023)
   PUBMED   36840585
  REMARK    GeneRIF: Role of CD14 in human disease. Review article
REFERENCE   4  (bases 1 to 1356)
  AUTHORS   Pallett LJ, Swadling L, Diniz M, Maini AA, Schwabenland M, Gasull
            AD, Davies J, Kucykowicz S, Skelton JK, Thomas N, Schmidt NM, Amin
            OE, Gill US, Stegmann KA, Burton AR, Stephenson E, Reynolds G,
            Whelan M, Sanchez J, de Maeyer R, Thakker C, Suveizdyte K, Uddin I,
            Ortega-Prieto AM, Grant C, Froghi F, Fusai G, Lens S,
            Perez-Del-Pulgar S, Al-Akkad W, Mazza G, Noursadeghi M, Akbar A,
            Kennedy PTF, Davidson BR, Prinz M, Chain BM, Haniffa M, Gilroy DW,
            Dorner M, Bengsch B, Schurich A and Maini MK.
  TITLE     Tissue CD14+CD8+ T cells reprogrammed by myeloid cells and modulated
            by LPS
  JOURNAL   Nature 614 (7947), 334-342 (2023)
   PUBMED   36697826
  REMARK    GeneRIF: Tissue CD14[+]CD8[+] T cells reprogrammed by myeloid cells
            and modulated by LPS.
REFERENCE   5  (bases 1 to 1356)
  AUTHORS   Roy N, Nadda N, Kumar H, Prasad C, Kumar Jha J, Pandey HC, Vanamail
            P, Saraya A, Balhara YPS, Shalimar and Nayak B.
  TITLE     Pattern recognition receptor CD14 gene polymorphisms in alcohol use
            disorder patients and its Influence on liver disease susceptibility
  JOURNAL   Front Immunol 13, 975027 (2022)
   PUBMED   36238273
  REMARK    GeneRIF: Pattern recognition receptor CD14 gene polymorphisms in
            alcohol use disorder patients and its Influence on liver disease
            susceptibility. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1356)
  AUTHORS   Martin TR, Wurfel MM, Zanoni I and Ulevitch R.
  TITLE     Targeting innate immunity by blocking CD14: Novel approach to
            control inflammation and organ dysfunction in COVID-19 illness
  JOURNAL   EBioMedicine 57, 102836 (2020)
   PUBMED   32574958
REFERENCE   7  (bases 1 to 1356)
  AUTHORS   Schumann RR, Leong SR, Flaggs GW, Gray PW, Wright SD, Mathison JC,
            Tobias PS and Ulevitch RJ.
  TITLE     Structure and function of lipopolysaccharide binding protein
  JOURNAL   Science 249 (4975), 1429-1431 (1990)
   PUBMED   2402637
REFERENCE   8  (bases 1 to 1356)
  AUTHORS   Wright SD, Ramos RA, Tobias PS, Ulevitch RJ and Mathison JC.
  TITLE     CD14, a receptor for complexes of lipopolysaccharide (LPS) and LPS
            binding protein
  JOURNAL   Science 249 (4975), 1431-1433 (1990)
   PUBMED   1698311
REFERENCE   9  (bases 1 to 1356)
  AUTHORS   Ferrero E and Goyert SM.
  TITLE     Nucleotide sequence of the gene encoding the monocyte
            differentiation antigen, CD14
  JOURNAL   Nucleic Acids Res 16 (9), 4173 (1988)
   PUBMED   2453848
REFERENCE   10  (bases 1 to 1356)
  AUTHORS   Goyert SM, Ferrero E, Rettig WJ, Yenamandra AK, Obata F and Le Beau
            MM.
  TITLE     The CD14 monocyte differentiation antigen maps to a region encoding
            growth factors and receptors
  JOURNAL   Science 239 (4839), 497-500 (1988)
   PUBMED   2448876
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.112247.1,
            SRR3476690.979747.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related         :: relevant for COVID-19 treatment
            MANE Ensembl match          :: ENST00000302014.11/ ENSP00000304236.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CF593452.1 and BC010507.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000591.3.
            Summary: The protein encoded by this gene is a surface antigen that
            is preferentially expressed on monocytes/macrophages. It cooperates
            with other proteins to mediate the innate immune response to
            bacterial lipopolysaccharide, and to viruses. This gene has been
            identified as a target candidate in the treatment of
            SARS-CoV-2-infected patients to potentially lessen or inhibit a
            severe inflammatory response. Alternative splicing results in
            multiple transcript variants encoding the same protein. [provided
            by RefSeq, Aug 2020].
            Transcript Variant: This variant (1) represents the predominant
            transcript. Variants 1-4 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1356
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..1356
                     /gene="CD14"
                     /note="CD14 molecule"
                     /db_xref="GeneID:929"
                     /db_xref="HGNC:HGNC:1628"
                     /db_xref="MIM:158120"
     misc_feature    51..53
                     /gene="CD14"
                     /note="upstream in-frame stop codon"
     CDS             105..1232
                     /gene="CD14"
                     /note="monocyte differentiation antigen CD14; myeloid
                     cell-specific leucine-rich glycoprotein"
                     /codon_start=1
                     /product="monocyte differentiation antigen CD14 precursor"
                     /protein_id="NP_000582.1"
                     /db_xref="CCDS:CCDS4232.1"
                     /db_xref="GeneID:929"
                     /db_xref="HGNC:HGNC:1628"
                     /db_xref="MIM:158120"
                     /translation="MERASCLLLLLLPLVHVSATTPEPCELDDEDFRCVCNFSEPQPDW
                     SEAFQCVSAVEVEIHAGGLNLEPFLKRVDADADPRQYADTVKALRVRRLTVGAAQVPAQ
                     LLVGALRVLAYSRLKELTLEDLKITGTMPPLPLEATGLALSSLRLRNVSWATGRSWLAE
                     LQQWLKPGLKVLSIAQAHSPAFSCEQVRAFPALTSLDLSDNPGLGERGLMAALCPHKFP
                     AIQNLALRNTGMETPTGVCAALAAAGVQPHSLDLSHNSLRATVNPSAPRCMWSSALNSL
                     NLSFAGLEQVPKGLPAKLRVLDLSCNRLNRAPQPDELPEVDNLTLDGNPFLVPGTALPH
                     EGSMNSGVVPACARSTLSVGVSGTLVLLQGARGFA"
     sig_peptide     105..161
                     /gene="CD14"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     162..1229
                     /gene="CD14"
                     /product="monocyte differentiation antigen CD14"
     mat_peptide     162..1205
                     /gene="CD14"
                     /product="Monocyte differentiation antigen CD14, urinary
                     form. /id=PRO_0000020884"
                     /note="propagated from UniProtKB/Swiss-Prot (P08571.2)"
     mat_peptide     162..1139
                     /gene="CD14"
                     /product="Monocyte differentiation antigen CD14,
                     membrane-bound form. /id=PRO_0000020885"
                     /note="propagated from UniProtKB/Swiss-Prot (P08571.2)"
     misc_feature    213..215
                     /gene="CD14"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08571.2); glycosylation site"
     misc_feature    264..350
                     /gene="CD14"
                     /note="propagated from UniProtKB/Swiss-Prot (P08571.2);
                     Region: LRR 1"
     misc_feature    351..458
                     /gene="CD14"
                     /note="propagated from UniProtKB/Swiss-Prot (P08571.2);
                     Region: LRR 2"
     misc_feature    459..536
                     /gene="CD14"
                     /note="propagated from UniProtKB/Swiss-Prot (P08571.2);
                     Region: LRR 3"
     misc_feature    537..620
                     /gene="CD14"
                     /note="propagated from UniProtKB/Swiss-Prot (P08571.2);
                     Region: LRR 4"
     misc_feature    555..557
                     /gene="CD14"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P08571.2); glycosylation site"
     misc_feature    621..692
                     /gene="CD14"
                     /note="propagated from UniProtKB/Swiss-Prot (P08571.2);
                     Region: LRR 5"
     misc_feature    693..776
                     /gene="CD14"
                     /note="propagated from UniProtKB/Swiss-Prot (P08571.2);
                     Region: LRR 6"
     misc_feature    777..857
                     /gene="CD14"
                     /note="propagated from UniProtKB/Swiss-Prot (P08571.2);
                     Region: LRR 7"
     misc_feature    858..938
                     /gene="CD14"
                     /note="propagated from UniProtKB/Swiss-Prot (P08571.2);
                     Region: LRR 8"
     misc_feature    939..1001
                     /gene="CD14"
                     /note="propagated from UniProtKB/Swiss-Prot (P08571.2);
                     Region: LRR 9"
     misc_feature    948..950
                     /gene="CD14"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P08571.2); glycosylation site"
     misc_feature    972..1229
                     /gene="CD14"
                     /note="propagated from UniProtKB/Swiss-Prot (P08571.2);
                     Region: Required for response to bacterial
                     lipopolysaccharide (LPS).
                     /evidence=ECO:0000250|UniProtKB:P10810"
     misc_feature    1071..1073
                     /gene="CD14"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P08571.2); glycosylation site"
     misc_feature    1110..1112
                     /gene="CD14"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:19838169; propagated from
                     UniProtKB/Swiss-Prot (P08571.2); glycosylation site"
     regulatory      1338..1343
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD14"
                     /note="hexamer: ATTAAA"
     polyA_site      1356
                     /gene="CD14"
                     /note="major polyA site"
ORIGIN
        1 acaagtgtga agcctggaag ccggcgggtg ccgctgtgta ggaaagaagc taaagcactt
       61 ccagagcctg tccggagctc agaggttcgg aagacttatc gaccatggag cgcgcgtcct
      121 gcttgttgct gctgctgctg ccgctggtgc acgtctctgc gaccacgcca gaaccttgtg
      181 agctggacga tgaagatttc cgctgcgtct gcaacttctc cgaacctcag cccgactggt
      241 ccgaagcctt ccagtgtgtg tctgcagtag aggtggagat ccatgccggc ggtctcaacc
      301 tagagccgtt tctaaagcgc gtcgatgcgg acgccgaccc gcggcagtat gctgacacgg
      361 tcaaggctct ccgcgtgcgg cggctcacag tgggagccgc acaggttcct gctcagctac
      421 tggtaggcgc cctgcgtgtg ctagcgtact cccgcctcaa ggaactgacg ctcgaggacc
      481 taaagataac cggcaccatg cctccgctgc ctctggaagc cacaggactt gcactttcca
      541 gcttgcgcct acgcaacgtg tcgtgggcga cagggcgttc ttggctcgcc gagctgcagc
      601 agtggctcaa gccaggcctc aaggtactga gcattgccca agcacactcg cctgcctttt
      661 cctgcgaaca ggttcgcgcc ttcccggccc ttaccagcct agacctgtct gacaatcctg
      721 gactgggcga acgcggactg atggcggctc tctgtcccca caagttcccg gccatccaga
      781 atctagcgct gcgcaacaca ggaatggaga cgcccacagg cgtgtgcgcc gcactggcgg
      841 cggcaggtgt gcagccccac agcctagacc tcagccacaa ctcgctgcgc gccaccgtaa
      901 accctagcgc tccgagatgc atgtggtcca gcgccctgaa ctccctcaat ctgtcgttcg
      961 ctgggctgga acaggtgcct aaaggactgc cagccaagct cagagtgctc gatctcagct
     1021 gcaacagact gaacagggcg ccgcagcctg acgagctgcc cgaggtggat aacctgacac
     1081 tggacgggaa tcccttcctg gtccctggaa ctgccctccc ccacgagggc tcaatgaact
     1141 ccggcgtggt cccagcctgt gcacgttcga ccctgtcggt gggggtgtcg ggaaccctgg
     1201 tgctgctcca aggggcccgg ggctttgcct aagatccaag acagaataat gaatggactc
     1261 aaactgcctt ggcttcaggg gagtcccgtc aggacgttga ggacttttcg accaattcaa
     1321 ccctttgccc cacctttatt aaaatcttaa acaacg
//
LOCUS       NM_000593               2685 bp    mRNA    linear   PRI 19-FEB-2023
DEFINITION  Homo sapiens transporter 1, ATP binding cassette subfamily B member
            (TAP1), transcript variant 1, mRNA.
ACCESSION   NM_000593
VERSION     NM_000593.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2685)
  AUTHORS   Zhu R, Chen YT, Wang BW, You YY, Wang XH, Xie HT, Jiang FG and Zhang
            MC.
  TITLE     TAP1, a potential immune-related prognosis biomarker with functional
            significance in uveal melanoma
  JOURNAL   BMC Cancer 23 (1), 146 (2023)
   PUBMED   36774490
  REMARK    GeneRIF: TAP1, a potential immune-related prognosis biomarker with
            functional significance in uveal melanoma. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2685)
  AUTHORS   Tu Z, Li K, Ji Q, Huang Y, Lv S, Li J, Wu L, Huang K and Zhu X.
  TITLE     Pan-cancer analysis: predictive role of TAP1 in cancer prognosis and
            response to immunotherapy
  JOURNAL   BMC Cancer 23 (1), 133 (2023)
   PUBMED   36759763
  REMARK    GeneRIF: Pan-cancer analysis: predictive role of TAP1 in cancer
            prognosis and response to immunotherapy. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 2685)
  AUTHORS   Li B, Feng Y, Hou Q, Fu Y and Luo Y.
  TITLE     Antigen Peptide Transporter 1 (TAP1) Promotes Resistance to MEK
            Inhibitors in Pancreatic Cancers
  JOURNAL   Int J Mol Sci 23 (13), 7168 (2022)
   PUBMED   35806187
  REMARK    GeneRIF: Antigen Peptide Transporter 1 (TAP1) Promotes Resistance to
            MEK Inhibitors in Pancreatic Cancers. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 2685)
  AUTHORS   Tao Y, Han X, Liu N, Shi L, Shi L, Liu S and Yao Y.
  TITLE     Association study of TAP and HLA-I gene combination with chronic
            hepatitis C virus infection in a Han population in China
  JOURNAL   Int J Immunogenet 49 (3), 169-180 (2022)
   PUBMED   35485366
  REMARK    GeneRIF: Association study of TAP and HLA-I gene combination with
            chronic hepatitis C virus infection in a Han population in China.
REFERENCE   5  (bases 1 to 2685)
  AUTHORS   Mantel I, Sadiq BA and Blander JM.
  TITLE     Spotlight on TAP and its vital role in antigen presentation and
            cross-presentation
  JOURNAL   Mol Immunol 142, 105-119 (2022)
   PUBMED   34973498
  REMARK    GeneRIF: Spotlight on TAP and its vital role in antigen presentation
            and cross-presentation. Review article
REFERENCE   6  (bases 1 to 2685)
  AUTHORS   Beck S, Kelly A, Radley E, Khurshid F, Alderton RP and Trowsdale J.
  TITLE     DNA sequence analysis of 66 kb of the human MHC class II region
            encoding a cluster of genes for antigen processing
  JOURNAL   J Mol Biol 228 (2), 433-441 (1992)
   PUBMED   1453454
REFERENCE   7  (bases 1 to 2685)
  AUTHORS   Colonna M, Bresnahan M, Bahram S, Strominger JL and Spies T.
  TITLE     Allelic variants of the human putative peptide transporter involved
            in antigen processing
  JOURNAL   Proc Natl Acad Sci U S A 89 (9), 3932-3936 (1992)
   PUBMED   1570316
REFERENCE   8  (bases 1 to 2685)
  AUTHORS   Bodmer JG, Marsh SG, Albert ED, Bodmer WF, Dupont B, Erlich HA, Mach
            B, Mayr WR, Parham P, Sasazuki T et al.
  TITLE     Nomenclature for factors of the HLA system, 1991. WHO Nomenclature
            Committee for factors of the HLA system
  JOURNAL   Tissue Antigens 39 (4), 161-173 (1992)
   PUBMED   1529427
  REMARK    Erratum:[Tissue Antigens. 1992 Nov;40(5):229-43. PMID: 1362295]
REFERENCE   9  (bases 1 to 2685)
  AUTHORS   Kelly A, Powis SH, Kerr LA, Mockridge I, Elliott T, Bastin J,
            Uchanska-Ziegler B, Ziegler A, Trowsdale J and Townsend A.
  TITLE     Assembly and function of the two ABC transporter proteins encoded in
            the human major histocompatibility complex
  JOURNAL   Nature 355 (6361), 641-644 (1992)
   PUBMED   1538751
REFERENCE   10  (bases 1 to 2685)
  AUTHORS   Bahram S, Arnold D, Bresnahan M, Strominger JL and Spies T.
  TITLE     Two putative subunits of a peptide pump encoded in the human major
            histocompatibility complex class II region
  JOURNAL   Proc Natl Acad Sci U S A 88 (22), 10094-10098 (1991)
   PUBMED   1946428
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC014081.2, BX648013.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000354258.5/ ENSP00000346206.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from KU178346.1 and AL669918.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 25, 2020 this sequence version replaced NM_000593.5.
            Summary: The membrane-associated protein encoded by this gene is a
            member of the superfamily of ATP-binding cassette (ABC)
            transporters. ABC proteins transport various molecules across
            extra- and intra-cellular membranes. ABC genes are divided into
            seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20,
            White). This protein is a member of the MDR/TAP subfamily. Members
            of the MDR/TAP subfamily are involved in multidrug resistance. The
            protein encoded by this gene is involved in the pumping of degraded
            cytosolic peptides across the endoplasmic reticulum into the
            membrane-bound compartment where class I molecules assemble.
            Mutations in this gene may be associated with ankylosing
            spondylitis, insulin-dependent diabetes mellitus, and celiac
            disease. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, May 2014].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2685
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.32"
     gene            1..2685
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /note="transporter 1, ATP binding cassette subfamily B
                     member"
                     /db_xref="GeneID:6890"
                     /db_xref="HGNC:HGNC:43"
                     /db_xref="MIM:170260"
     CDS             69..2315
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /EC_number="7.4.2.14"
                     /note="isoform 1 is encoded by transcript variant 1;
                     antigen peptide transporter 1; transporter, ATP-binding
                     cassette, major histocompatibility complex, 1; ABC
                     transporter, MHC 1; peptide supply factor 1; ATP-binding
                     cassette, sub-family B (MDR/TAP), member 2; transporter 1,
                     ATP-binding cassette, sub-family B (MDR/TAP); transporter
                     associated with antigen processing; peptide transporter
                     PSF1; peptide transporter TAP1; really interesting new gene
                     4 protein; ATP-binding cassette sub-family B member 2;
                     peptide transporter involved in antigen processing 1;
                     transporter 1 ATP-binding cassette sub-family B"
                     /codon_start=1
                     /product="antigen peptide transporter 1 isoform 1"
                     /protein_id="NP_000584.3"
                     /db_xref="CCDS:CCDS4758.2"
                     /db_xref="GeneID:6890"
                     /db_xref="HGNC:HGNC:43"
                     /db_xref="MIM:170260"
                     /translation="MASSRCPAPRGCRCLPGASLAWLGTVLLLLADWVLLRTALPRIFS
                     LLVPTALPLLRVWAVGLSRWAVLWLGACGVLRATVGSKSENAGAQGWLAALKPLAAALG
                     LALPGLALFRELISWGAPGSADSTRLLHWGSHPTAFVVSYAAALPAAALWHKLGSLWVP
                     GGQGGSGNPVRRLLGCLGSETRRLSLFLVLVVLSSLGEMAIPFFTGRLTDWILQDGSAD
                     TFTRNLTLMSILTIASAVLEFVGDGIYNNTMGHVHSHLQGEVFGAVLRQETEFFQQNQT
                     GNIMSRVTEDTSTLSDSLSENLSLFLWYLVRGLCLLGIMLWGSVSLTMVTLITLPLLFL
                     LPKKVGKWYQLLEVQVRESLAKSSQVAIEALSAMPTVRSFANEEGEAQKFREKLQEIKT
                     LNQKEAVAYAVNSWTTSISGMLLKVGILYIGGQLVTSGAVSSGNLVTFVLYQMQFTQAV
                     EVLLSIYPRVQKAVGSSEKIFEYLDRTPRCPPSGLLTPLHLEGLVQFQDVSFAYPNRPD
                     VLVLQGLTFTLRPGEVTALVGPNGSGKSTVAALLQNLYQPTGGQLLLDGKPLPQYEHRY
                     LHRQVAAVGQEPQVFGRSLQENIAYGLTQKPTMEEITAAAVKSGAHSFISGLPQGYDTE
                     VDEAGSQLSGGQRQAVALARALIRKPCVLILDDATSALDANSQLQVEQLLYESPERYSR
                     SVLLITQHLSLVEQADHILFLEGGAIREGGTHQQLMEKKGCYWAMVQAPADAPE"
     misc_feature    114..176
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03518.3);
                     transmembrane region"
     misc_feature    162..164
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /note="Inter-subunit salt bridge with TAPBP.
                     /evidence=ECO:0000269|PubMed:26611325; propagated from
                     UniProtKB/Swiss-Prot (Q03518.3); other site"
     misc_feature    228..296
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03518.3);
                     transmembrane region"
     misc_feature    345..407
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03518.3);
                     transmembrane region"
     misc_feature    468..530
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03518.3);
                     transmembrane region"
     misc_feature    627..689
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03518.3);
                     transmembrane region"
     misc_feature    750..812
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03518.3);
                     transmembrane region"
     misc_feature    963..1025
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03518.3);
                     transmembrane region"
     misc_feature    1053..1115
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03518.3);
                     transmembrane region"
     misc_feature    1191..1328
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03518.3);
                     Region: Part of the peptide-binding site.
                     /evidence=ECO:0000269|PubMed:8955196"
     misc_feature    1323..1385
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03518.3);
                     transmembrane region"
     misc_feature    1398..1460
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03518.3);
                     transmembrane region"
     misc_feature    1425..1529
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03518.3);
                     Region: Part of the peptide-binding site.
                     /evidence=ECO:0000269|PubMed:8955196"
     regulatory      2666..2671
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /note="hexamer: AATAAA"
     polyA_site      2685
                     /gene="TAP1"
                     /gene_synonym="ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1;
                     RING4; TAP1*0102N; TAP1N"
                     /note="major polyA site"
ORIGIN
        1 gcttcaggcc ccaccggggc gcggagagtc ccaggcccgg ccgggaccgg gacggcgtcc
       61 gagtgccaat ggctagctct aggtgtcccg ctccccgcgg gtgccgctgc ctccccggag
      121 cttctctcgc atggctgggg acagtactgc tacttctcgc cgactgggtg ctgctccgga
      181 ccgcgctgcc ccgcatattc tccctgctgg tgcccaccgc gctgccactg ctccgggtct
      241 gggcggtggg cctgagccgc tgggccgtgc tctggctggg ggcctgcggg gtcctcaggg
      301 caacggttgg ctccaagagc gaaaacgcag gtgcccaggg ctggctggct gctttgaagc
      361 cattagctgc ggcactgggc ttggccctgc cgggacttgc cttgttccga gagctgatct
      421 catggggagc ccccgggtcc gcggatagca ccaggctact gcactgggga agtcacccta
      481 ccgccttcgt tgtcagttat gcagcggcac tgcccgcagc agccctgtgg cacaaactcg
      541 ggagcctctg ggtgcccggc ggtcagggcg gctctggaaa ccctgtgcgt cggcttctag
      601 gctgcctggg ctcggagacg cgccgcctct cgctgttcct ggtcctggtg gtcctctcct
      661 ctcttgggga gatggccatt ccattcttta cgggccgcct cactgactgg attctacaag
      721 atggctcagc cgataccttc actcgaaact taactctcat gtccattctc accatagcca
      781 gtgcagtgct ggagttcgtg ggtgacggga tctataacaa caccatgggc cacgtgcaca
      841 gccacttgca gggagaggtg tttggggctg tcctgcgcca ggagacggag tttttccaac
      901 agaaccagac aggtaacatc atgtctcggg taacagagga cacgtccacc ctgagtgatt
      961 ctctgagtga gaatctgagc ttatttctgt ggtacctggt gcgaggccta tgtctcttgg
     1021 ggatcatgct ctggggatca gtgtccctca ccatggtcac cctgatcacc ctgcctctgc
     1081 ttttccttct gcccaagaag gtgggaaaat ggtaccagtt gctggaagtg caggtgcggg
     1141 aatctctggc aaagtccagc caggtggcca ttgaggctct gtcggccatg cctacagttc
     1201 gaagctttgc caacgaggag ggcgaagccc agaagtttag ggaaaagctg caagaaataa
     1261 agacactcaa ccagaaggag gctgtggcct atgcagtcaa ctcctggacc actagtattt
     1321 caggtatgct gctgaaagtg ggaatcctct acattggtgg gcagctggtg accagtgggg
     1381 ctgtaagcag tgggaacctt gtcacatttg ttctctacca gatgcagttc acccaggctg
     1441 tggaggtact gctctccatc taccccagag tacagaaggc tgtgggctcc tcagagaaaa
     1501 tatttgagta cctggaccgc acccctcgct gcccacccag tggtctgttg actcccttac
     1561 acttggaggg ccttgtccag ttccaagatg tctcctttgc ctacccaaac cgcccagatg
     1621 tcttagtgct acaggggctg acattcaccc tacgccctgg cgaggtgacg gcgctggtgg
     1681 gacccaatgg gtctgggaag agcacagtgg ctgccctgct gcagaatctg taccagccca
     1741 ccgggggaca gctgctgttg gatgggaagc cccttcccca atatgagcac cgctacctgc
     1801 acaggcaggt ggctgcagtg ggacaagagc cacaggtatt tggaagaagt cttcaagaaa
     1861 atattgccta tggcctgacc cagaagccaa ctatggagga aatcacagct gctgcagtaa
     1921 agtctggggc ccatagtttc atctctggac tccctcaggg ctatgacaca gaggtagacg
     1981 aggctgggag ccagctgtca gggggtcagc gacaggcagt ggcgttggcc cgagcattga
     2041 tccggaaacc gtgtgtactt atcctggatg atgccaccag tgccctggat gcaaacagcc
     2101 agttacaggt ggagcagctc ctgtacgaaa gccctgagcg gtactcccgc tcagtgcttc
     2161 tcatcaccca gcacctcagc ctggtggagc aggctgacca catcctcttt ctggaaggag
     2221 gcgctatccg ggagggggga acccaccagc agctcatgga gaaaaagggg tgctactggg
     2281 ccatggtgca ggctcctgca gatgctccag aatgaaagcc ttctcagacc tgcgcactcc
     2341 atctccctcc cttttcttct ctctgtggtg gagaaccaca gctgcagagt aggcagctgc
     2401 ctccaggatg agttacttga aatttgcctt gagtgtgtta cctcctttcc aagctcctcg
     2461 tgataatgca gacttcctgg agtacaaaca caggatttgt aattccttac tgtaacggag
     2521 tttagagcca gggctgatgc tttggtgtgg ccagcactct gaaactgaga aatgttcaga
     2581 atgtacggaa agatgatcag ctattttcaa cataactgaa ggcatatgct ggcccataaa
     2641 caccctgtag gttcttgata tttataataa aattggtgtt ttgta
//
LOCUS       NM_000594               1678 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens tumor necrosis factor (TNF), mRNA.
ACCESSION   NM_000594
VERSION     NM_000594.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1678)
  AUTHORS   Schnell L, Zubrod A, Catone N, Bialas J and Aichem A.
  TITLE     Tumor necrosis factor mediates USE1-independent FAT10ylation under
            inflammatory conditions
  JOURNAL   Life Sci Alliance 6 (11), e202301985 (2023)
   PUBMED   37604583
  REMARK    GeneRIF: Tumor necrosis factor mediates USE1-independent
            FAT10ylation under inflammatory conditions. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 1678)
  AUTHORS   Ocal E, Toprak V, Akalin SA, Asir F and Deveci E.
  TITLE     Investigation of Beclin 1 and TNF-alpha expressions in preeclampsia
            placentas: Immunohistochemical study
  JOURNAL   Medicine (Baltimore) 102 (33), e34757 (2023)
   PUBMED   37603530
  REMARK    GeneRIF: Investigation of Beclin 1 and TNF-alpha expressions in
            preeclampsia placentas: Immunohistochemical study.
REFERENCE   3  (bases 1 to 1678)
  AUTHORS   Zhang Z, Duolikun D, Dang T, Wang Y, Ma L, Ma X and Yao Q.
  TITLE     Association of tumor necrosis factor-alpha-308G/A polymorphism with
            the risk of obstructive sleep apnea: A meta-analysis of 14
            case-control studies
  JOURNAL   PLoS One 18 (8), e0290239 (2023)
   PUBMED   37595008
  REMARK    GeneRIF: Association of tumor necrosis factor-alpha-308G/A
            polymorphism with the risk of obstructive sleep apnea: A
            meta-analysis of 14 case-control studies. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 1678)
  AUTHORS   Kwon MJ, Kim JH, Kim KJ, Ko EJ, Lee JY, Ryu CS, Ha YH, Kim YR and
            Kim NK.
  TITLE     Genetic Association between Inflammatory-Related Polymorphism in
            STAT3, IL-1beta, IL-6, TNF-alpha and Idiopathic Recurrent
            Implantation Failure
  JOURNAL   Genes (Basel) 14 (8), 1588 (2023)
   PUBMED   37628639
  REMARK    GeneRIF: Genetic Association between Inflammatory-Related
            Polymorphism in STAT3, IL-1beta, IL-6, TNF-alpha and Idiopathic
            Recurrent Implantation Failure. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1678)
  AUTHORS   Ishitoku M, Mokuda S, Araki K, Watanabe H, Kohno H, Sugimoto T,
            Yoshida Y, Sakaguchi T, Masumoto J, Hirata S and Sugiyama E.
  TITLE     Tumor Necrosis Factor and Interleukin-1beta Upregulate NRP2
            Expression and Promote SARS-CoV-2 Proliferation
  JOURNAL   Viruses 15 (7), 1498 (2023)
   PUBMED   37515185
  REMARK    GeneRIF: Tumor Necrosis Factor and Interleukin-1beta Upregulate NRP2
            Expression and Promote SARS-CoV-2 Proliferation. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 1678)
  AUTHORS   Buonaguro L, Barillari G, Chang HK, Bohan CA, Kao V, Morgan R, Gallo
            RC and Ensoli B.
  TITLE     Effects of the human immunodeficiency virus type 1 Tat protein on
            the expression of inflammatory cytokines
  JOURNAL   J Virol 66 (12), 7159-7167 (1992)
   PUBMED   1279199
REFERENCE   7  (bases 1 to 1678)
  AUTHORS   Zhang XM, Weber I and Chen MJ.
  TITLE     Site-directed mutational analysis of human tumor necrosis
            factor-alpha receptor binding site and structure-functional
            relationship
  JOURNAL   J Biol Chem 267 (33), 24069-24075 (1992)
   PUBMED   1331108
REFERENCE   8  (bases 1 to 1678)
  AUTHORS   Stevenson FT, Bursten SL, Locksley RM and Lovett DH.
  TITLE     Myristyl acylation of the tumor necrosis factor alpha precursor on
            specific lysine residues
  JOURNAL   J Exp Med 176 (4), 1053-1062 (1992)
   PUBMED   1402651
REFERENCE   9  (bases 1 to 1678)
  AUTHORS   Stephens JM and Pekala PH.
  TITLE     Transcriptional repression of the C/EBP-alpha and GLUT4 genes in
            3T3-L1 adipocytes by tumor necrosis factor-alpha. Regulations is
            coordinate and independent of protein synthesis
  JOURNAL   J Biol Chem 267 (19), 13580-13584 (1992)
   PUBMED   1618860
REFERENCE   10  (bases 1 to 1678)
  AUTHORS   Spriggs DR, Deutsch S and Kufe DW.
  TITLE     Genomic structure, induction, and production of TNF-alpha
  JOURNAL   Immunol Ser 56, 3-34 (1992)
   PUBMED   1550865
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC028148.1, X01394.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in cytokine storm inflammatory
            response
            MANE Ensembl match          :: ENST00000449264.3/ ENSP00000398698.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL662801.7, BP215875.1,
            BC028148.1 and CA306559.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000594.3.
            Summary: This gene encodes a multifunctional proinflammatory
            cytokine that belongs to the tumor necrosis factor (TNF)
            superfamily. This cytokine is mainly secreted by macrophages. It
            can bind to, and thus functions through its receptors
            TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. This cytokine is involved in the
            regulation of a wide spectrum of biological processes including
            cell proliferation, differentiation, apoptosis, lipid metabolism,
            and coagulation. This cytokine has been implicated in a variety of
            diseases, including autoimmune diseases, insulin resistance,
            psoriasis, rheumatoid arthritis ankylosing spondylitis,
            tuberculosis, autosomal dominant polycystic kidney disease, and
            cancer. Mutations in this gene affect susceptibility to cerebral
            malaria, septic shock, and Alzheimer disease. Knockout studies in
            mice also suggested the neuroprotective function of this cytokine.
            [provided by RefSeq, Aug 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1678
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..1678
                     /gene="TNF"
                     /gene_synonym="DIF; TNF-alpha; TNFA; TNFSF2; TNLG1F"
                     /note="tumor necrosis factor"
                     /db_xref="GeneID:7124"
                     /db_xref="HGNC:HGNC:11892"
                     /db_xref="MIM:191160"
     misc_feature    100..102
                     /gene="TNF"
                     /gene_synonym="DIF; TNF-alpha; TNFA; TNFSF2; TNLG1F"
                     /note="upstream in-frame stop codon"
     CDS             178..879
                     /gene="TNF"
                     /gene_synonym="DIF; TNF-alpha; TNFA; TNFSF2; TNLG1F"
                     /note="TNF, monocyte-derived; TNF, macrophage-derived; APC1
                     protein; tumor necrosis factor-alpha; TNF-a; tumor necrosis
                     factor ligand superfamily member 2; tumor necrosis factor
                     ligand 1F; tumor necrotic factor alpha"
                     /codon_start=1
                     /product="tumor necrosis factor"
                     /protein_id="NP_000585.2"
                     /db_xref="CCDS:CCDS4702.1"
                     /db_xref="GeneID:7124"
                     /db_xref="HGNC:HGNC:11892"
                     /db_xref="MIM:191160"
                     /translation="MSTESMIRDVELAEEALPKKTGGPQGSRRCLFLSLFSFLIVAGAT
                     TLFCLLHFGVIGPQREEFPRDLSLISPLAQAVRSSSRTPSDKPVAHVVANPQAEGQLQW
                     LNRRANALLANGVELRDNQLVVPSEGLYLIYSQVLFKGQGCPSTHVLLTHTISRIAVSY
                     QTKVNLLSAIKSPCQRETPEGAEAKPWYEPIYLGGVFQLEKGDRLSAEINRPDYLDFAE
                     SGQVYFGIIAL"
     misc_feature    181..183
                     /gene="TNF"
                     /gene_synonym="DIF; TNF-alpha; TNFA; TNFSF2; TNLG1F"
                     /note="Phosphoserine, by CK1. /evidence=ECO:0000305;
                     propagated from UniProtKB/Swiss-Prot (P01375.1);
                     phosphorylation site"
     misc_feature    280..285
                     /gene="TNF"
                     /gene_synonym="DIF; TNF-alpha; TNFA; TNFSF2; TNLG1F"
                     /note="Cleavage, by SPPL2A or SPPL2B; propagated from
                     UniProtKB/Swiss-Prot (P01375.1); cleavage site"
     misc_feature    283..345
                     /gene="TNF"
                     /gene_synonym="DIF; TNF-alpha; TNFA; TNFSF2; TNLG1F"
                     /note="propagated from UniProtKB/Swiss-Prot (P01375.1);
                     transmembrane region"
     misc_feature    292..297
                     /gene="TNF"
                     /gene_synonym="DIF; TNF-alpha; TNFA; TNFSF2; TNLG1F"
                     /note="Cleavage, by SPPL2A or SPPL2B; propagated from
                     UniProtKB/Swiss-Prot (P01375.1); cleavage site"
     misc_feature    322..327
                     /gene="TNF"
                     /gene_synonym="DIF; TNF-alpha; TNFA; TNFSF2; TNLG1F"
                     /note="Cleavage, by SPPL2A or SPPL2B; propagated from
                     UniProtKB/Swiss-Prot (P01375.1); cleavage site"
     misc_feature    328..333
                     /gene="TNF"
                     /gene_synonym="DIF; TNF-alpha; TNFA; TNFSF2; TNLG1F"
                     /note="Cleavage, by SPPL2A or SPPL2B; propagated from
                     UniProtKB/Swiss-Prot (P01375.1); cleavage site"
     misc_feature    403..408
                     /gene="TNF"
                     /gene_synonym="DIF; TNF-alpha; TNFA; TNFSF2; TNLG1F"
                     /note="Cleavage, by ADAM17; propagated from
                     UniProtKB/Swiss-Prot (P01375.1); cleavage site"
     misc_feature    415..417
                     /gene="TNF"
                     /gene_synonym="DIF; TNF-alpha; TNFA; TNFSF2; TNLG1F"
                     /note="O-linked (GalNAc...) serine, in soluble form.
                     /evidence=ECO:0000269|PubMed:8631363; propagated from
                     UniProtKB/Swiss-Prot (P01375.1); glycosylation site"
     regulatory      1655..1660
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TNF"
                     /gene_synonym="DIF; TNF-alpha; TNFA; TNFSF2; TNLG1F"
                     /note="hexamer: AATAAA"
     polyA_site      1678
                     /gene="TNF"
                     /gene_synonym="DIF; TNF-alpha; TNFA; TNFSF2; TNLG1F"
                     /note="major polyA site"
ORIGIN
        1 agcagacgct ccctcagcaa ggacagcaga ggaccagcta agagggagag aagcaactac
       61 agaccccccc tgaaaacaac cctcagacgc cacatcccct gacaagctgc caggcaggtt
      121 ctcttcctct cacatactga cccacggctc caccctctct cccctggaaa ggacaccatg
      181 agcactgaaa gcatgatccg ggacgtggag ctggccgagg aggcgctccc caagaagaca
      241 ggggggcccc agggctccag gcggtgcttg ttcctcagcc tcttctcctt cctgatcgtg
      301 gcaggcgcca ccacgctctt ctgcctgctg cactttggag tgatcggccc ccagagggaa
      361 gagttcccca gggacctctc tctaatcagc cctctggccc aggcagtcag atcatcttct
      421 cgaaccccga gtgacaagcc tgtagcccat gttgtagcaa accctcaagc tgaggggcag
      481 ctccagtggc tgaaccgccg ggccaatgcc ctcctggcca atggcgtgga gctgagagat
      541 aaccagctgg tggtgccatc agagggcctg tacctcatct actcccaggt cctcttcaag
      601 ggccaaggct gcccctccac ccatgtgctc ctcacccaca ccatcagccg catcgccgtc
      661 tcctaccaga ccaaggtcaa cctcctctct gccatcaaga gcccctgcca gagggagacc
      721 ccagaggggg ctgaggccaa gccctggtat gagcccatct atctgggagg ggtcttccag
      781 ctggagaagg gtgaccgact cagcgctgag atcaatcggc ccgactatct cgactttgcc
      841 gagtctgggc aggtctactt tgggatcatt gccctgtgag gaggacgaac atccaacctt
      901 cccaaacgcc tcccctgccc caatcccttt attaccccct ccttcagaca ccctcaacct
      961 cttctggctc aaaaagagaa ttgggggctt agggtcggaa cccaagctta gaactttaag
     1021 caacaagacc accacttcga aacctgggat tcaggaatgt gtggcctgca cagtgaagtg
     1081 ctggcaacca ctaagaattc aaactggggc ctccagaact cactggggcc tacagctttg
     1141 atccctgaca tctggaatct ggagaccagg gagcctttgg ttctggccag aatgctgcag
     1201 gacttgagaa gacctcacct agaaattgac acaagtggac cttaggcctt cctctctcca
     1261 gatgtttcca gacttccttg agacacggag cccagccctc cccatggagc cagctccctc
     1321 tatttatgtt tgcacttgtg attatttatt atttatttat tatttattta tttacagatg
     1381 aatgtattta tttgggagac cggggtatcc tgggggaccc aatgtaggag ctgccttggc
     1441 tcagacatgt tttccgtgaa aacggagctg aacaataggc tgttcccatg tagccccctg
     1501 gcctctgtgc cttcttttga ttatgttttt taaaatattt atctgattaa gttgtctaaa
     1561 caatgctgat ttggtgacca actgtcactc attgctgagc ctctgctccc caggggagtt
     1621 gtgtctgtaa tcgccctact attcagtggc gagaaataaa gtttgcttag aaaagaaa
//
LOCUS       NM_000595               1416 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens lymphotoxin alpha (LTA), transcript variant 2, mRNA.
ACCESSION   NM_000595
VERSION     NM_000595.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1416)
  AUTHORS   El-Ghamrawy M, El-Gharbawi N, Shahin G, Abdelhady A, Sayed R, Diaa N
            and Bishai I.
  TITLE     Combined tumor necrosis factor-alpha (-308 G/A) and tumor necrosis
            factor-beta (+ 252 A/G) nucleotide polymorphisms and chronicity in
            Egyptian children with immune thrombocytopenia
  JOURNAL   Int J Hematol 117 (6), 856-862 (2023)
   PUBMED   36802017
  REMARK    GeneRIF: Combined tumor necrosis factor-alpha (-308 G/A) and tumor
            necrosis factor-beta (+ 252 A/G) nucleotide polymorphisms and
            chronicity in Egyptian children with immune thrombocytopenia.
REFERENCE   2  (bases 1 to 1416)
  AUTHORS   Alhelf M, Shoaib RMS, Elsaid A, Bastawy N, Elbeltagy NS, Salem ET,
            Refaat S and Abuelnadar EH.
  TITLE     Prognostic significance of the genetic variant of lymphotoxin alpha
            (p.Thr60Asn) in egyptian patients with advanced hepatocellular
            carcinoma
  JOURNAL   Mol Biol Rep 50 (5), 4317-4327 (2023)
   PUBMED   36929286
  REMARK    GeneRIF: Prognostic significance of the genetic variant of
            lymphotoxin alpha (p.Thr60Asn) in egyptian patients with advanced
            hepatocellular carcinoma.
REFERENCE   3  (bases 1 to 1416)
  AUTHORS   Ferroni P, Palmirotta R, Egeo G, Aurilia C, Valente MG, Spila A,
            Pierallini A, Barbanti P and Guadagni F.
  TITLE     Association of LTA and SOD Gene Polymorphisms with Cerebral White
            Matter Hyperintensities in Migraine Patients
  JOURNAL   Int J Mol Sci 23 (22), 13781 (2022)
   PUBMED   36430258
  REMARK    GeneRIF: Association of LTA and SOD Gene Polymorphisms with Cerebral
            White Matter Hyperintensities in Migraine Patients. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 1416)
  AUTHORS   Alcais A, Alter A, Antoni G, Orlova M, Nguyen VT, Singh M,
            Vanderborght PR, Katoch K, Mira MT, Vu HT, Ngyuen TH, Nguyen NB,
            Moraes M, Mehra N, Schurr E and Abel L.
  TITLE     Stepwise replication identifies a low-producing lymphotoxin-alpha
            allele as a major risk factor for early-onset leprosy
  JOURNAL   Nat Genet 39 (4), 517-522 (2007)
   PUBMED   17353895
  REMARK    GeneRIF: LTA is a major gene associated with early-onset leprosy.
REFERENCE   5  (bases 1 to 1416)
  AUTHORS   Seidemann K, Zimmermann M, Book M, Meyer U, Burkhardt B, Welte K,
            Reiter A and Stanulla M.
  TITLE     Tumor necrosis factor and lymphotoxin alfa genetic polymorphisms and
            outcome in pediatric patients with non-Hodgkin's lymphoma: results
            from Berlin-Frankfurt-Munster Trial NHL-BFM 95
  JOURNAL   J Clin Oncol 23 (33), 8414-8421 (2005)
   PUBMED   16293872
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 1416)
  AUTHORS   Ozaki K, Ohnishi Y, Iida A, Sekine A, Yamada R, Tsunoda T, Sato H,
            Sato H, Hori M, Nakamura Y and Tanaka T.
  TITLE     Functional SNPs in the lymphotoxin-alpha gene that are associated
            with susceptibility to myocardial infarction
  JOURNAL   Nat Genet 32 (4), 650-654 (2002)
   PUBMED   12426569
  REMARK    GeneRIF: Single-nucleotide polymorphisms in the lymphotoxin-alpha
            gene are associated with susceptibility to myocardial infarction.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Erratum:[Nat Genet. 2003 Jan;33(1):107.]
REFERENCE   7  (bases 1 to 1416)
  AUTHORS   Buonaguro L, Barillari G, Chang HK, Bohan CA, Kao V, Morgan R, Gallo
            RC and Ensoli B.
  TITLE     Effects of the human immunodeficiency virus type 1 Tat protein on
            the expression of inflammatory cytokines
  JOURNAL   J Virol 66 (12), 7159-7167 (1992)
   PUBMED   1279199
REFERENCE   8  (bases 1 to 1416)
  AUTHORS   Matsuyama N, Okawa N, Tsukii Y, Endo T and Kaji A.
  TITLE     Nucleotide sequence of a cDNA encoding human tumor necrosis factor
            beta from B lymphoblastoid cell RPMI 1788
  JOURNAL   FEBS Lett 302 (2), 141-144 (1992)
   PUBMED   1353024
REFERENCE   9  (bases 1 to 1416)
  AUTHORS   Evans AM, Petersen JW, Sekhon GS and DeMars R.
  TITLE     Mapping of prolactin and tumor necrosis factor-beta genes on human
            chromosome 6p using lymphoblastoid cell deletion mutants
  JOURNAL   Somat Cell Mol Genet 15 (3), 203-213 (1989)
   PUBMED   2567059
REFERENCE   10  (bases 1 to 1416)
  AUTHORS   Gray,P.W., Aggarwal,B.B., Benton,C.V., Bringman,T.S., Henzel,W.J.,
            Jarrett,J.A., Leung,D.W., Moffat,B., Ng,P., Svedersky,L.P. et al.
  TITLE     Cloning and expression of cDNA for human lymphotoxin, a lymphokine
            with tumour necrosis activity
  JOURNAL   Nature 312 (5996), 721-724 (1984)
   PUBMED   6334807
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: D12614.1, SRR1163657.434742.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000418386.3/ ENSP00000413450.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL662801.7, BG685356.1,
            D12614.1 and BX108399.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 3, 2019 this sequence version replaced NM_000595.3.
            Summary: The encoded protein, a member of the tumor necrosis factor
            family, is a cytokine produced by lymphocytes. The protein is
            highly inducible, secreted, and forms heterotrimers with
            lymphotoxin-beta which anchor lymphotoxin-alpha to the cell
            surface. This protein also mediates a large variety of
            inflammatory, immunostimulatory, and antiviral responses, is
            involved in the formation of secondary lymphoid organs during
            development and plays a role in apoptosis. Genetic variations in
            this gene are associated with susceptibility to leprosy type 4,
            myocardial infarction, non-Hodgkin's lymphoma, and psoriatic
            arthritis. Alternatively spliced transcript variants have been
            observed for this gene. [provided by RefSeq, Jul 2012].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1416
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..1416
                     /gene="LTA"
                     /gene_synonym="LT; TNFB; TNFSF1; TNLG1E"
                     /note="lymphotoxin alpha"
                     /db_xref="GeneID:4049"
                     /db_xref="HGNC:HGNC:6709"
                     /db_xref="MIM:153440"
     CDS             168..785
                     /gene="LTA"
                     /gene_synonym="LT; TNFB; TNFSF1; TNLG1E"
                     /note="tumor necrosis factor beta; LT-alpha; TNF-beta; TNF
                     superfamily, member 1; tumor necrosis factor ligand
                     superfamily member 1; tumor necrosis factor ligand 1E"
                     /codon_start=1
                     /product="lymphotoxin-alpha precursor"
                     /protein_id="NP_000586.2"
                     /db_xref="CCDS:CCDS4701.1"
                     /db_xref="GeneID:4049"
                     /db_xref="HGNC:HGNC:6709"
                     /db_xref="MIM:153440"
                     /translation="MTPPERLFLPRVCGTTLHLLLLGLLLVLLPGAQGLPGVGLTPSAA
                     QTARQHPKMHLAHSTLKPAAHLIGDPSKQNSLLWRANTDRAFLQDGFSLSNNSLLVPTS
                     GIYFVYSQVVFSGKAYSPKATSSPLYLAHEVQLFSSQYPFHVPLLSSQKMVYPGLQEPW
                     LHSMYHGAAFQLTQGDQLSTHTDGIPHLVLSPSTVFFGAFAL"
     sig_peptide     168..269
                     /gene="LTA"
                     /gene_synonym="LT; TNFB; TNFSF1; TNLG1E"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     270..782
                     /gene="LTA"
                     /gene_synonym="LT; TNFB; TNFSF1; TNLG1E"
                     /product="Lymphotoxin-alpha. /id=PRO_0000034463"
                     /note="propagated from UniProtKB/Swiss-Prot (P01374.2)"
     misc_feature    288..290
                     /gene="LTA"
                     /gene_synonym="LT; TNFB; TNFSF1; TNLG1E"
                     /note="O-linked (GalNAc...) threonine, partial.
                     /evidence=ECO:0000269|PubMed:1451807; propagated from
                     UniProtKB/Swiss-Prot (P01374.2); glycosylation site"
     misc_feature    453..455
                     /gene="LTA"
                     /gene_synonym="LT; TNFB; TNFSF1; TNLG1E"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:1451807. /id=CAR_000048;
                     propagated from UniProtKB/Swiss-Prot (P01374.2);
                     glycosylation site"
     regulatory      1395..1400
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LTA"
                     /gene_synonym="LT; TNFB; TNFSF1; TNLG1E"
                     /note="hexamer: AATAAA"
     polyA_site      1416
                     /gene="LTA"
                     /gene_synonym="LT; TNFB; TNFSF1; TNLG1E"
                     /note="major polyA site"
ORIGIN
        1 gctccgcaca gcaggtgagg ctctcctgcc ccatctcctt gggctgcccg tgcttcgtgc
       61 tttggactac cgcccagcag tgtcctgccc tctgcctggg cctcggtccc tcctgcacct
      121 gctgcctgga tccccggcct gcctgggcct gggccttggt tctccccatg acaccacctg
      181 aacgtctctt cctcccaagg gtgtgtggca ccaccctaca cctcctcctt ctggggctgc
      241 tgctggttct gctgcctggg gcccaggggc tccctggtgt tggcctcaca ccttcagctg
      301 cccagactgc ccgtcagcac cccaagatgc atcttgccca cagcaccctc aaacctgctg
      361 ctcacctcat tggagacccc agcaagcaga actcactgct ctggagagca aacacggacc
      421 gtgccttcct ccaggatggt ttctccttga gcaacaattc tctcctggtc cccaccagtg
      481 gcatctactt cgtctactcc caggtggtct tctctgggaa agcctactct cccaaggcca
      541 cctcctcccc actctacctg gcccatgagg tccagctctt ctcctcccag taccccttcc
      601 atgtgcctct cctcagctcc cagaagatgg tgtatccagg gctgcaggaa ccctggctgc
      661 actcgatgta ccacggggct gcgttccagc tcacccaggg agaccagcta tccacccaca
      721 cagatggcat cccccaccta gtcctcagcc ctagtactgt cttctttgga gccttcgctc
      781 tgtagaactt ggaaaaatcc agaaagaaaa aataattgat ttcaagacct tctccccatt
      841 ctgcctccat tctgaccatt tcaggggtcg tcaccacctc tcctttggcc attccaacag
      901 ctcaagtctt ccctgatcaa gtcaccggag ctttcaaaga aggaattcta ggcatcccag
      961 gggaccacac ctccctgaac catccctgat gtctgtctgg ctgaggattt caagcctgcc
     1021 taggaattcc cagcccaaag ctgttggtct gtcccaccag ctaggtgggg cctagatcca
     1081 cacacagagg aagagcaggc acatggagga gcttggggga tgactagagg cagggagggg
     1141 actatttatg aaggcaaaaa aattaaatta tttatttatg gaggatggag agaggggaat
     1201 aatagaagaa catccaagga gaaacagaga caggcccaag agatgaagag tgagagggca
     1261 tgcgcacaag gctgaccaag agagaaagaa gtaggcatga gggatcacag ggccccagaa
     1321 ggcagggaaa ggctctgaaa gccagctgcc gaccagagcc ccacacggag gcatctgcac
     1381 cctcgatgaa gcccaataaa cctcttttct ctgaaa
//
LOCUS       NM_000596               1514 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens insulin like growth factor binding protein 1 (IGFBP1),
            mRNA.
ACCESSION   NM_000596
VERSION     NM_000596.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1514)
  AUTHORS   Peng X, He D, Peng R, Feng J, Chen D, Xie H, Li Q, Guo Y, Zhou J,
            Chen Y and He H.
  TITLE     Associations between IGFBP1 gene polymorphisms and the risk of
            preeclampsia and fetal growth restriction
  JOURNAL   Hypertens Res 46 (9), 2070-2084 (2023)
   PUBMED   37217731
  REMARK    GeneRIF: Associations between IGFBP1 gene polymorphisms and the risk
            of preeclampsia and fetal growth restriction.
REFERENCE   2  (bases 1 to 1514)
  AUTHORS   Ruan Q, Zhou C, Wang Q, Kang F, Jiang Y, Li G, Feng J, Zong S, Zhang
            J and Wang J.
  TITLE     A Simple Kit Formulation for Preparation and Exploratory Human
            Studies of a Novel 99mTc-Labeled Fibroblast Activation Protein
            Inhibitor Tracer for Imaging of the Fibroblast Activation Protein in
            Cancers
  JOURNAL   Mol Pharm 20 (6), 2942-2950 (2023)
   PUBMED   37083360
  REMARK    GeneRIF: A Simple Kit Formulation for Preparation and Exploratory
            Human Studies of a Novel [99m]Tc-Labeled Fibroblast Activation
            Protein Inhibitor Tracer for Imaging of the Fibroblast Activation
            Protein in Cancers.
REFERENCE   3  (bases 1 to 1514)
  AUTHORS   Suzuki H, Iwamoto H, Seki T, Nakamura T, Masuda A, Sakaue T, Tanaka
            T, Imamura Y, Niizeki T, Nakano M, Shimose S, Shirono T, Noda Y,
            Kamachi N, Sakai M, Morita K, Nakayama M, Yoshizumi T, Kuromatsu R,
            Yano H, Cao Y, Koga H and Torimura T.
  TITLE     Tumor-derived insulin-like growth factor-binding protein-1
            contributes to resistance of hepatocellular carcinoma to tyrosine
            kinase inhibitors
  JOURNAL   Cancer Commun (Lond) 43 (4), 415-434 (2023)
   PUBMED   36825684
  REMARK    GeneRIF: Tumor-derived insulin-like growth factor-binding protein-1
            contributes to resistance of hepatocellular carcinoma to tyrosine
            kinase inhibitors.
REFERENCE   4  (bases 1 to 1514)
  AUTHORS   Gupta MB, Biggar KK, Li C, Nathanielsz PW and Jansson T.
  TITLE     Increased Colocalization and Interaction Between Decidual Protein
            Kinase A and Insulin-like Growth Factor-Binding Protein-1 in
            Intrauterine Growth Restriction
  JOURNAL   J Histochem Cytochem 70 (7), 515-530 (2022)
   PUBMED   35801847
  REMARK    GeneRIF: Increased Colocalization and Interaction Between Decidual
            Protein Kinase A and Insulin-like Growth Factor-Binding Protein-1 in
            Intrauterine Growth Restriction.
REFERENCE   5  (bases 1 to 1514)
  AUTHORS   Li X, Li C, Wang Y, Cai J, Zhao L, Su Z and Ye H.
  TITLE     IGFBP1 inhibits the invasion, migration, and apoptosis of
            HTR-8/SVneo trophoblast cells in preeclampsia
  JOURNAL   Hypertens Pregnancy 41 (1), 53-63 (2022)
   PUBMED   35168459
  REMARK    GeneRIF: IGFBP1 inhibits the invasion, migration, and apoptosis of
            HTR-8/SVneo trophoblast cells in preeclampsia.
REFERENCE   6  (bases 1 to 1514)
  AUTHORS   Ehrenborg E, Larsson C, Stern I, Janson M, Powell DR and Luthman H.
  TITLE     Contiguous localization of the genes encoding human insulin-like
            growth factor binding proteins 1 (IGBP1) and 3 (IGBP3) on chromosome
            7
  JOURNAL   Genomics 12 (3), 497-502 (1992)
   PUBMED   1373120
REFERENCE   7  (bases 1 to 1514)
  AUTHORS   Brinkman A, Kortleve DJ, Schuller AG, Zwarthoff EC and Drop SL.
  TITLE     Site-directed mutagenesis of the N-terminal region of IGF binding
            protein 1; analysis of IGF binding capability
  JOURNAL   FEBS Lett 291 (2), 264-268 (1991)
   PUBMED   1718783
REFERENCE   8  (bases 1 to 1514)
  AUTHORS   Suwanichkul A, Cubbage ML and Powell DR.
  TITLE     The promoter of the human gene for insulin-like growth factor
            binding protein-1. Basal promoter activity in HEP G2 cells depends
            upon liver factor B1
  JOURNAL   J Biol Chem 265 (34), 21185-21193 (1990)
   PUBMED   1701175
REFERENCE   9  (bases 1 to 1514)
  AUTHORS   Ekstrand J, Ehrenborg E, Stern I, Stellan B, Zech L and Luthman H.
  TITLE     The gene for insulin-like growth factor-binding protein-1 is
            localized to human chromosomal region 7p14-p12
  JOURNAL   Genomics 6 (3), 413-418 (1990)
   PUBMED   1691735
REFERENCE   10  (bases 1 to 1514)
  AUTHORS   Brewer MT, Stetler GL, Squires CH, Thompson RC, Busby WH and
            Clemmons DR.
  TITLE     Cloning, characterization, and expression of a human insulin-like
            growth factor binding protein
  JOURNAL   Biochem Biophys Res Commun 152 (3), 1289-1297 (1988)
   PUBMED   2454104
  REMARK    Erratum:[Biochem Biophys Res Commun 1988 Sep 30;155(3):1485]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC057806.1, M31145.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000275525.8/ ENSP00000275525.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX336957.2, M31145.1 and
            CA429917.1.
            On Nov 23, 2018 this sequence version replaced NM_000596.3.
            Summary: This gene is a member of the insulin-like growth factor
            binding protein (IGFBP) family and encodes a protein with an IGFBP
            N-terminal domain and a thyroglobulin type-I domain. The encoded
            protein, mainly expressed in the liver, circulates in the plasma
            and binds both insulin-like growth factors (IGFs) I and II,
            prolonging their half-lives and altering their interaction with
            cell surface receptors. This protein is important in cell migration
            and metabolism. Low levels of this protein may be associated with
            impaired glucose tolerance, vascular disease and hypertension in
            human patients. [provided by RefSeq, Aug 2017].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1514
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p12.3"
     gene            1..1514
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="insulin like growth factor binding protein 1"
                     /db_xref="GeneID:3484"
                     /db_xref="HGNC:HGNC:5469"
                     /db_xref="MIM:146730"
     CDS             166..945
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="placental protein 12; amniotic fluid binding
                     protein; alpha-pregnancy-associated endometrial globulin;
                     growth hormone independent-binding protein; binding
                     protein-28; binding protein-26; binding protein-25;
                     IGF-binding protein 1; IBP-1; IGFBP-1"
                     /codon_start=1
                     /product="insulin-like growth factor-binding protein 1
                     precursor"
                     /protein_id="NP_000587.1"
                     /db_xref="CCDS:CCDS5504.1"
                     /db_xref="GeneID:3484"
                     /db_xref="HGNC:HGNC:5469"
                     /db_xref="MIM:146730"
                     /translation="MSEVPVARVWLVLLLLTVQVGVTAGAPWQCAPCSAEKLALCPPVS
                     ASCSEVTRSAGCGCCPMCALPLGAACGVATARCARGLSCRALPGEQQPLHALTRGQGAC
                     VQESDASAPHAAEAGSPESPESTEITEEELLDNFHLMAPSEEDHSILWDAISTYDGSKA
                     LHVTNIKKWKEPCRIELYRVVESLAKAQETSGEEISKFYLPNCNKNGFYHSRQCETSMD
                     GEAGLCWCVYPWNGKRIPGSPEIRGDPNCQIYFNVQN"
     sig_peptide     166..240
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     241..942
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /product="Insulin-like growth factor-binding protein 1.
                     /id=PRO_0000014365"
                     /note="propagated from UniProtKB/Swiss-Prot (P08833.1)"
     misc_feature    298..300
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P08833.1); phosphorylation site"
     misc_feature    523..525
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19765076; propagated from
                     UniProtKB/Swiss-Prot (P08833.1); phosphorylation site"
     misc_feature    532..534
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19765076; propagated from
                     UniProtKB/Swiss-Prot (P08833.1); phosphorylation site"
     misc_feature    541..543
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19765076,
                     ECO:0000269|PubMed:7678248; propagated from
                     UniProtKB/Swiss-Prot (P08833.1); phosphorylation site"
     misc_feature    595..597
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:19765076,
                     ECO:0000269|PubMed:7678248, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P08833.1);
                     phosphorylation site"
     misc_feature    631..633
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P08833.1); phosphorylation site"
     misc_feature    634..636
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="Phosphothreonine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P08833.1); phosphorylation site"
     misc_feature    637..639
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P08833.1); phosphorylation site"
     misc_feature    742..744
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="Phosphothreonine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P08833.1); phosphorylation site"
     misc_feature    745..747
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:19765076,
                     ECO:0000269|PubMed:26091039, ECO:0000269|PubMed:7678248;
                     propagated from UniProtKB/Swiss-Prot (P08833.1);
                     phosphorylation site"
     misc_feature    760..762
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P08833.1); phosphorylation site"
     misc_feature    889..891
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P08833.1); phosphorylation site"
     misc_feature    901..909
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="propagated from UniProtKB/Swiss-Prot (P08833.1);
                     Region: Cell attachment site"
     regulatory      1494..1499
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="hexamer: AATAAA"
     polyA_site      1514
                     /gene="IGFBP1"
                     /gene_synonym="AFBP; hIGFBP-1; IBP1; IGF-BP25; PP12"
                     /note="major polyA site"
ORIGIN
        1 atcggccacc gccatcccat ccagcgagca tctgccgccg cgccgccgcc accctcccag
       61 agagcactgg ccaccgctcc accatcactt gcccagagtt tgggccaccg cccgccgcca
      121 ccagcccaga gagcatcggc ccctgtctgc tgctcgcgcc tggagatgtc agaggtcccc
      181 gttgctcgcg tctggctggt actgctcctg ctgactgtcc aggtcggcgt gacagccggc
      241 gctccgtggc agtgcgcgcc ctgctccgcc gagaagctcg cgctctgccc gccggtgtcc
      301 gcctcgtgct cggaggtcac ccggtccgcc ggctgcggct gttgcccgat gtgcgccctg
      361 cctctgggcg ccgcgtgcgg cgtggcgact gcacgctgcg cccggggact cagttgccgc
      421 gcgctgccgg gggagcagca acctctgcac gccctcaccc gcggccaagg cgcctgcgtg
      481 caggagtctg acgcctccgc tccccatgct gcagaggcag ggagccctga aagcccagag
      541 agcacggaga taactgagga ggagctcctg gataatttcc atctgatggc cccttctgaa
      601 gaggatcatt ccatcctttg ggacgccatc agtacctatg atggctcgaa ggctctccat
      661 gtcaccaaca tcaaaaaatg gaaggagccc tgccgaatag aactctacag agtcgtagag
      721 agtttagcca aggcacagga gacatcagga gaagaaattt ccaaatttta cctgccaaac
      781 tgcaacaaga atggatttta tcacagcaga cagtgtgaga catccatgga tggagaggcg
      841 ggactctgct ggtgcgtcta cccttggaat gggaagagga tccctgggtc tccagagatc
      901 aggggagacc ccaactgcca gatatatttt aatgtacaaa actgaaacca gatgaaataa
      961 tgttctgtca cgtgaaatat ttaagtatat agtatattta tactctagaa catgcacatt
     1021 tatatatata tgtatatgta tatatatata gtaactactt tttatactcc atacataact
     1081 tgatatagaa agctgtttat ttattcactg taagtttatt ttttctacac agtaaaaact
     1141 tgtactatgt taataacttg tcctatgtca atttgtatat catgaaacac ttctcatcat
     1201 attgtatgta agtaattgca tttctgctct tccaaagctc ctgcgtctgt ttttaaagag
     1261 catggaaaaa tactgcctag aaaatgcaaa atgaaataag agagagtagt ttttcagcta
     1321 gtttgaagga ggacggttaa cttgtatatt ccaccattca catttgatgt acatgtgtag
     1381 ggaaagttaa aagtgttgat tacataatca aagctacctg tggtgatgtt gccacctgtt
     1441 aaaatgtaca ctggatatgt tgttaaacac gtgtctataa tggaaacatt tacaataaat
     1501 attctgcatg gaaa
//
LOCUS       NM_000597               1414 bp    mRNA    linear   PRI 26-JUL-2023
DEFINITION  Homo sapiens insulin like growth factor binding protein 2 (IGFBP2),
            transcript variant 1, mRNA.
ACCESSION   NM_000597
VERSION     NM_000597.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1414)
  AUTHORS   Conway JRW, Dinc DD, Follain G, Paavolainen O, Kaivola J, Bostrom P,
            Hartiala P, Peuhu E and Ivaska J.
  TITLE     IGFBP2 secretion by mammary adipocytes limits breast cancer invasion
  JOURNAL   Sci Adv 9 (28), eadg1840 (2023)
   PUBMED   37436978
  REMARK    GeneRIF: IGFBP2 secretion by mammary adipocytes limits breast cancer
            invasion.
REFERENCE   2  (bases 1 to 1414)
  AUTHORS   Rauzier C, Chartrand DJ, Almeras N, Lemieux I, Larose E, Mathieu P,
            Pibarot P, Lamarche B, Rheaume C, Poirier P, Despres JP and Picard
            F.
  TITLE     Associations of insulin-like growth factor binding protein-2 with
            metabolic profile and hepatic fat deposition in asymptomatic men and
            women
  JOURNAL   Am J Physiol Endocrinol Metab 325 (1), E99-E105 (2023)
   PUBMED   37285597
  REMARK    GeneRIF: Associations of insulin-like growth factor binding
            protein-2 with metabolic profile and hepatic fat deposition in
            asymptomatic men and women.
REFERENCE   3  (bases 1 to 1414)
  AUTHORS   Harland AJ, Perks CM, White P, Kurian KM and Barber HR.
  TITLE     Insulin-like growth factor binding protein-2 and glucose-regulated
            protein 78 kDa: Potential biomarkers affect prognosis in
            IDH-wildtype glioblastoma patients
  JOURNAL   Cancer Med 12 (13), 14426-14439 (2023)
   PUBMED   37212470
  REMARK    GeneRIF: Insulin-like growth factor binding protein-2 and
            glucose-regulated protein 78 kDa: Potential biomarkers affect
            prognosis in IDH-wildtype glioblastoma patients.
REFERENCE   4  (bases 1 to 1414)
  AUTHORS   Chin C, Ravichandran R, Sanborn K, Fleming T, Wheatcroft SB, Kearney
            MT, Tokman S, Walia R, Smith MA, Flint DJ, Mohanakumar T, Bremner RM
            and Sureshbabu A.
  TITLE     Loss of IGFBP2 mediates alveolar type 2 cell senescence and promotes
            lung fibrosis
  JOURNAL   Cell Rep Med 4 (3), 100945 (2023)
   PUBMED   36787736
  REMARK    GeneRIF: Loss of IGFBP2 mediates alveolar type 2 cell senescence and
            promotes lung fibrosis.
REFERENCE   5  (bases 1 to 1414)
  AUTHORS   Cai R, Zhao F, Zhou H, Wang Z, Lin D, Huang L, Xie W, Chen J, Zhou
            L, Zhang N and Huang C.
  TITLE     A tumor-associated autoantibody panel for the detection of non-small
            cell lung cancer
  JOURNAL   Front Oncol 12, 1056572 (2022)
   PUBMED   36531074
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1414)
  AUTHORS   Zhou J and Bondy C.
  TITLE     Insulin-like growth factor-II and its binding proteins in placental
            development
  JOURNAL   Endocrinology 131 (3), 1230-1240 (1992)
   PUBMED   1380437
REFERENCE   7  (bases 1 to 1414)
  AUTHORS   Binkert C, Margot JB, Landwehr J, Heinrich G and Schwander J.
  TITLE     Structure of the human insulin-like growth factor binding protein-2
            gene
  JOURNAL   Mol Endocrinol 6 (5), 826-836 (1992)
   PUBMED   1376411
REFERENCE   8  (bases 1 to 1414)
  AUTHORS   Ehrenborg E, Vilhelmsdotter S, Bajalica S, Larsson C, Stern I, Koch
            J, Brondum-Nielsen K and Luthman H.
  TITLE     Structure and localization of the human insulin-like growth
            factor-binding protein 2 gene
  JOURNAL   Biochem Biophys Res Commun 176 (3), 1250-1255 (1991)
   PUBMED   1710112
REFERENCE   9  (bases 1 to 1414)
  AUTHORS   Agarwal N, Hsieh CL, Sills D, Swaroop M, Desai B, Francke U and
            Swaroop A.
  TITLE     Sequence analysis, expression and chromosomal localization of a
            gene, isolated from a subtracted human retina cDNA library, that
            encodes an insulin-like growth factor binding protein (IGFBP2)
  JOURNAL   Exp Eye Res 52 (5), 549-561 (1991)
   PUBMED   1712312
REFERENCE   10  (bases 1 to 1414)
  AUTHORS   Zapf J, Kiefer M, Merryweather J, Musiarz F, Bauer D, Born W,
            Fischer JA and Froesch ER.
  TITLE     Isolation from adult human serum of four insulin-like growth factor
            (IGF) binding proteins and molecular cloning of one of them that is
            increased by IGF I administration and in extrapancreatic tumor
            hypoglycemia
  JOURNAL   J Biol Chem 265 (25), 14892-14898 (1990)
   PUBMED   1697583
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC004312.1, M35410.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000233809.9/ ENSP00000233809.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC071967.1 and M35410.1.
            On Aug 31, 2018 this sequence version replaced NM_000597.2.
            Summary: The protein encoded by this gene is one of six similar
            proteins that bind insulin-like growth factors I and II (IGF-I and
            IGF-II). The encoded protein can be secreted into the bloodstream,
            where it binds IGF-I and IGF-II with high affinity, or it can
            remain intracellular, interacting with many different ligands. High
            expression levels of this protein promote the growth of several
            types of tumors and may be predictive of the chances of recovery of
            the patient. Several transcript variants, one encoding a secreted
            isoform and the others encoding nonsecreted isoforms, have been
            found for this gene. [provided by RefSeq, Sep 2015].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            CCDS Note: The coding region was updated to make it identical to
            the current human reference genome sequence.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1414
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..1414
                     /gene="IGFBP2"
                     /gene_synonym="IBP2; IGF-BP53"
                     /note="insulin like growth factor binding protein 2"
                     /db_xref="GeneID:3485"
                     /db_xref="HGNC:HGNC:5471"
                     /db_xref="MIM:146731"
     CDS             105..1082
                     /gene="IGFBP2"
                     /gene_synonym="IBP2; IGF-BP53"
                     /note="isoform a precursor is encoded by transcript variant
                     1; IGF-binding protein 2; insulin-like growth factor
                     binding protein 2, 36kDa"
                     /codon_start=1
                     /product="insulin-like growth factor-binding protein 2
                     isoform a precursor"
                     /protein_id="NP_000588.3"
                     /db_xref="CCDS:CCDS42815.1"
                     /db_xref="GeneID:3485"
                     /db_xref="HGNC:HGNC:5471"
                     /db_xref="MIM:146731"
                     /translation="MLPRVGCPALPLPPPPLLPLLLLLLGASGGGGGARAEVLFRCPPC
                     TPERLAACGPPPVAPPAAVAAVAGGARMPCAELVREPGCGCCSVCARLEGEACGVYTPR
                     CGQGLRCYPHPGSELPLQALVMGEGTCEKRRDAEYGASPEQVADNGDDHSEGGLVENHV
                     DSTMNMLGGGGSAGRKPLKSGMKELAVFREKVTEQHRQMGKGGKHHLGLEEPKKLRPPP
                     ARTPCQQELDQVLERISTMRLPDERGPLEHLYSLHIPNCDKHGLYNLKQCKMSLNGQRG
                     ECWCVNPNTGKLIQGAPTIRGDPECHLFYNEQQEARGVHTQRMQ"
     sig_peptide     105..212
                     /gene="IGFBP2"
                     /gene_synonym="IBP2; IGF-BP53"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      1394..1399
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGFBP2"
                     /gene_synonym="IBP2; IGF-BP53"
                     /note="hexamer: ATTAAA"
     polyA_site      1414
                     /gene="IGFBP2"
                     /gene_synonym="IBP2; IGF-BP53"
                     /note="major polyA site"
ORIGIN
        1 gaggaagaag cggaggaggc ggctcccgcg ctcgcagggc cgtgccacct gcccgcccgc
       61 ccgctcgctc gctcgcccgc cgcgccgcgc tgccgaccgc cagcatgctg ccgagagtgg
      121 gctgccccgc gctgccgctg ccgccgccgc cgctgctgcc gctgctgctg ctgctactgg
      181 gcgcgagtgg cggcggcggc ggggcgcgcg cggaggtgct gttccgctgc ccgccctgca
      241 cacccgagcg cctggccgcc tgcgggcccc cgccggttgc gccgcccgcc gcggtggccg
      301 cagtggccgg aggcgcccgc atgccatgcg cggagctcgt ccgggagccg ggctgcggct
      361 gctgctcggt gtgcgcccgg ctggagggcg aggcgtgcgg cgtctacacc ccgcgctgcg
      421 gccaggggct gcgctgctat ccccacccgg gctccgagct gcccctgcag gcgctggtca
      481 tgggcgaggg cacttgtgag aagcgccggg acgccgagta tggcgccagc ccggagcagg
      541 ttgcagacaa tggcgatgac cactcagaag gaggcctggt ggagaaccac gtggacagca
      601 ccatgaacat gttgggcggg ggaggcagtg ctggccggaa gcccctcaag tcgggtatga
      661 aggagctggc cgtgttccgg gagaaggtca ctgagcagca ccggcagatg ggcaagggtg
      721 gcaagcatca ccttggcctg gaggagccca agaagctgcg accaccccct gccaggactc
      781 cctgccaaca ggaactggac caggtcctgg agcggatctc caccatgcgc cttccggatg
      841 agcggggccc tctggagcac ctctactccc tgcacatccc caactgtgac aagcatggcc
      901 tgtacaacct caaacagtgc aagatgtctc tgaacgggca gcgtggggag tgctggtgtg
      961 tgaaccccaa caccgggaag ctgatccagg gagcccccac catccggggg gaccccgagt
     1021 gtcatctctt ctacaatgag cagcaggagg ctcgcggggt gcacacccag cggatgcagt
     1081 agaccgcagc cagccggtgc ctggcgcccc tgccccccgc ccctctccaa acaccggcag
     1141 aaaacggaga gtgcttgggt ggtgggtgct ggaggatttt ccagttctga cacacgtatt
     1201 tatatttgga aagagaccag caccgagctc ggcacctccc cggcctctct cttcccagct
     1261 gcagatgcca cacctgctcc ttcttgcttt ccccggggga ggaagggggt tgtggtcggg
     1321 gagctggggt acaggtttgg ggagggggaa gagaaatttt tatttttgaa cccctgtgtc
     1381 ccttttgcat aagattaaag gaaggaaaag taaa
//
LOCUS       NM_000598               2613 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens insulin like growth factor binding protein 3 (IGFBP3),
            transcript variant 2, mRNA.
ACCESSION   NM_000598
VERSION     NM_000598.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2613)
  AUTHORS   Zhang Y, Qiao W, Ji Y and Meng L.
  TITLE     GATA4 inhibits odontoblastic differentiation of dental pulp stem
            cells through targeting IGFBP3
  JOURNAL   Arch Oral Biol 154, 105756 (2023)
   PUBMED   37451139
  REMARK    GeneRIF: GATA4 inhibits odontoblastic differentiation of dental pulp
            stem cells through targeting IGFBP3.
REFERENCE   2  (bases 1 to 2613)
  AUTHORS   Gil-Martinez M, Lorente-Sorolla C, Rodrigo-Munoz JM, Naharro S,
            Garcia-de Castro Z, Sastre J, Valverde-Monge M, Quirce S, Caballero
            ML, Olaguibel JM and Del Pozo V.
  TITLE     Obese Asthma Phenotype Is Associated with hsa-miR-26a-1-3p and
            hsa-miR-376a-3p Modulating the IGF Axis
  JOURNAL   Int J Mol Sci 24 (14), 11620 (2023)
   PUBMED   37511378
  REMARK    GeneRIF: Obese Asthma Phenotype Is Associated with hsa-miR-26a-1-3p
            and hsa-miR-376a-3p Modulating the IGF Axis. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 2613)
  AUTHORS   Kwon A, Chae HW, Lee WJ, Kim J, Kim YJ, Ahn J, Oh Y and Kim HS.
  TITLE     Insulin-like growth factor binding protein-3 induces senescence by
            inhibiting telomerase activity in MCF-7 breast cancer cells
  JOURNAL   Sci Rep 13 (1), 8739 (2023)
   PUBMED   37253773
  REMARK    GeneRIF: Insulin-like growth factor binding protein-3 induces
            senescence by inhibiting telomerase activity in MCF-7 breast cancer
            cells. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2613)
  AUTHORS   Arafat HM, Omar J, Shafii N, Naser IA, Al Laham NA, Muhamad R,
            Al-Astani TAD, Shamallakh OM and Shamallakh KM.
  TITLE     The Association Between the Serum Level of IGF-1 and IGFBP-3 and the
            Risk of Breast Cancer among Women in the Gaza Strip
  JOURNAL   Asian Pac J Cancer Prev 24 (2), 717-723 (2023)
   PUBMED   36853324
  REMARK    GeneRIF: The Association Between the Serum Level of IGF-1 and
            IGFBP-3 and the Risk of Breast Cancer among Women in the Gaza Strip.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2613)
  AUTHORS   Bibi A, Aamir M, Haroon ZH, Maqsood U and Qamar U.
  CONSRTM   Hajira
  TITLE     Etiological study of short stature in children and role of insulin
            like growth factor-1 and insulin like growth factor binding
            protein-3 as screening markers for growth hormone deficiency
  JOURNAL   J Pak Med Assoc 73 (2), 323-327 (2023)
   PUBMED   36800719
  REMARK    GeneRIF: Etiological study of short stature in children and role of
            insulin like growth factor-1 and insulin like growth factor binding
            protein-3 as screening markers for growth hormone deficiency.
REFERENCE   6  (bases 1 to 2613)
  AUTHORS   Gargosky SE, Pham HM, Wilson KF, Liu F, Giudice LC and Rosenfeld RG.
  TITLE     Measurement and characterization of insulin-like growth factor
            binding protein-3 in human biological fluids: discrepancies between
            radioimmunoassay and ligand blotting
  JOURNAL   Endocrinology 131 (6), 3051-3060 (1992)
   PUBMED   1280211
REFERENCE   7  (bases 1 to 2613)
  AUTHORS   Takahashi T, Monica-Masuda L, Ito S, Katsumoto T, Ishibashi Y and
            Onodera K.
  TITLE     Biochemical study of cells cultured from a patient with tuberous
            sclerosis
  JOURNAL   J Dermatol 19 (11), 909-913 (1992)
   PUBMED   1293182
REFERENCE   8  (bases 1 to 2613)
  AUTHORS   Cohen P, Graves HC, Peehl DM, Kamarei M, Giudice LC and Rosenfeld
            RG.
  TITLE     Prostate-specific antigen (PSA) is an insulin-like growth factor
            binding protein-3 protease found in seminal plasma
  JOURNAL   J Clin Endocrinol Metab 75 (4), 1046-1053 (1992)
   PUBMED   1383255
REFERENCE   9  (bases 1 to 2613)
  AUTHORS   Ehrenborg E, Larsson C, Stern I, Janson M, Powell DR and Luthman H.
  TITLE     Contiguous localization of the genes encoding human insulin-like
            growth factor binding proteins 1 (IGBP1) and 3 (IGBP3) on chromosome
            7
  JOURNAL   Genomics 12 (3), 497-502 (1992)
   PUBMED   1373120
REFERENCE   10  (bases 1 to 2613)
  AUTHORS   Cubbage ML, Suwanichkul A and Powell DR.
  TITLE     Insulin-like growth factor binding protein-3. Organization of the
            human chromosomal gene and demonstration of promoter activity
  JOURNAL   J Biol Chem 265 (21), 12642-12649 (1990)
   PUBMED   1695633
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X64875.1, DRR138515.57192.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142853,
            SAMEA2145245 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000613132.5/ ENSP00000477772.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU102436.1, BC064987.1,
            AK056274.1 and AI142967.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 1, 2019 this sequence version replaced NM_000598.4.
            Summary: This gene is a member of the insulin-like growth factor
            binding protein (IGFBP) family and encodes a protein with an IGFBP
            domain and a thyroglobulin type-I domain. The protein forms a
            ternary complex with insulin-like growth factor acid-labile subunit
            (IGFALS) and either insulin-like growth factor (IGF) I or II. In
            this form, it circulates in the plasma, prolonging the half-life of
            IGFs and altering their interaction with cell surface receptors.
            Alternate transcriptional splice variants, encoding different
            isoforms, have been characterized. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 1,
            resulting in a shorter protein (isoform b).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2613
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p12.3"
     gene            1..2613
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /note="insulin like growth factor binding protein 3"
                     /db_xref="GeneID:3486"
                     /db_xref="HGNC:HGNC:5472"
                     /db_xref="MIM:146732"
     CDS             133..1008
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /note="isoform b precursor is encoded by transcript variant
                     2; IGF-binding protein 3; growth hormone-dependent binding
                     protein; acid stable subunit of the 140 K IGF complex;
                     binding protein 53; binding protein 29; IBP-3; IGFBP-3"
                     /codon_start=1
                     /product="insulin-like growth factor-binding protein 3
                     isoform b precursor"
                     /protein_id="NP_000589.2"
                     /db_xref="CCDS:CCDS5505.1"
                     /db_xref="GeneID:3486"
                     /db_xref="HGNC:HGNC:5472"
                     /db_xref="MIM:146732"
                     /translation="MQRARPTLWAAALTLLVLLRGPPVARAGASSAGLGPVVRCEPCDA
                     RALAQCAPPPAVCAELVREPGCGCCLTCALSEGQPCGIYTERCGSGLRCQPSPDEARPL
                     QALLDGRGLCVNASAVSRLRAYLLPAPPAPGNASESEEDRSAGSVESPSVSSTHRVSDP
                     KFHPLHSKIIIIKKGHAKDSQRYKVDYESQSTDTQNFSSESKRETEYGPCRREMEDTLN
                     HLKFLNVLSPRGVHIPNCDKKGFYKKKQCRPSKGRKRGFCWCVDKYGQPLPGYTTKGKE
                     DVHCYSMQSK"
     sig_peptide     133..213
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     214..1005
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /product="insulin-like growth factor-binding protein 3
                     isoform b"
     misc_feature    214..534
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /note="propagated from UniProtKB/Swiss-Prot (P17936.2);
                     Region: IGF-binding. /evidence=ECO:0000255"
     misc_feature    478..480
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:19139490; propagated from
                     UniProtKB/Swiss-Prot (P17936.2); glycosylation site"
     misc_feature    520..618
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /note="propagated from UniProtKB/Swiss-Prot (P17936.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    538..540
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P17936.2); glycosylation site"
     misc_feature    574..576
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P17936.2); phosphorylation site"
     misc_feature    697..765
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /note="propagated from UniProtKB/Swiss-Prot (P17936.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    727..729
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19139490; propagated from
                     UniProtKB/Swiss-Prot (P17936.2); glycosylation site"
     misc_feature    733..735
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P17936.2); phosphorylation site"
     regulatory      2482..2487
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /note="hexamer: AATAAA"
     regulatory      2497..2502
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /note="hexamer: ATTAAA"
     polyA_site      2506
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /note="major polyA site"
     polyA_site      2523
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
     regulatory      2589..2594
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
                     /note="hexamer: AATAAA"
     polyA_site      2613
                     /gene="IGFBP3"
                     /gene_synonym="BP-53; IBP3"
ORIGIN
        1 agatgcgagc actgcggctg ggcgctgagg atcagccgct tcctgcctgg attccacagc
       61 ttcgcgccgt gtactgtcgc cccatccctg cgcgcccagc ctgccaagca gcgtgccccg
      121 gttgcaggcg tcatgcagcg ggcgcgaccc acgctctggg ccgctgcgct gactctgctg
      181 gtgctgctcc gcgggccgcc ggtggcgcgg gctggcgcga gctcggcggg cttgggtccc
      241 gtggtgcgct gcgagccgtg cgacgcgcgt gcactggccc agtgcgcgcc tccgcccgcc
      301 gtgtgcgcgg agctggtgcg cgagccgggc tgcggctgct gcctgacgtg cgcactgagc
      361 gagggccagc cgtgcggcat ctacaccgag cgctgtggct ccggccttcg ctgccagccg
      421 tcgcccgacg aggcgcgacc gctgcaggcg ctgctggacg gccgcgggct ctgcgtcaac
      481 gctagtgccg tcagccgcct gcgcgcctac ctgctgccag cgccgccagc tccaggaaat
      541 gctagtgagt cggaggaaga ccgcagcgcc ggcagtgtgg agagcccgtc cgtctccagc
      601 acgcaccggg tgtctgatcc caagttccac cccctccatt caaagataat catcatcaag
      661 aaagggcatg ctaaagacag ccagcgctac aaagttgact acgagtctca gagcacagat
      721 acccagaact tctcctccga gtccaagcgg gagacagaat atggtccctg ccgtagagaa
      781 atggaagaca cactgaatca cctgaagttc ctcaatgtgc tgagtcccag gggtgtacac
      841 attcccaact gtgacaagaa gggattttat aagaaaaagc agtgtcgccc ttccaaaggc
      901 aggaagcggg gcttctgctg gtgtgtggat aagtatgggc agcctctccc aggctacacc
      961 accaagggga aggaggacgt gcactgctac agcatgcaga gcaagtagac gcctgccgca
     1021 aggttaatgt ggagctcaaa tatgccttat tttgcacaaa agactgccaa ggacatgacc
     1081 agcagctggc tacagcctcg atttatattt ctgtttgtgg tgaactgatt ttttttaaac
     1141 caaagtttag aaagaggttt ttgaaatgcc tatggtttct ttgaatggta aacttgagca
     1201 tcttttcact ttccagtagt cagcaaagag cagtttgaat tttcttgtcg cttcctatca
     1261 aaatattcag agactcgagc acagcaccca gacttcatgc gcccgtggaa tgctcaccac
     1321 atgttggtcg aagcggccga ccactgactt tgtgacttag gcggctgtgt tgcctatgta
     1381 gagaacacgc ttcaccccca ctccccgtac agtgcgcaca ggctttatcg agaataggaa
     1441 aacctttaaa ccccggtcat ccggacatcc caacgcatgc tcctggagct cacagccttc
     1501 tgtggtgtca tttctgaaac aagggcgtgg atccctcaac caagaagaat gtttatgtct
     1561 tcaagtgacc tgtactgctt ggggactatt ggagaaaata aggtggagtc ctacttgttt
     1621 aaaaaatatg tatctaagaa tgttctaggg cactctggga acctataaag gcaggtattt
     1681 cgggccctcc tcttcaggaa tcttcctgaa gacatggccc agtcgaaggc ccaggatggc
     1741 ttttgctgcg gccccgtggg gtaggaggga cagagagaca gggagagtca gcctccacat
     1801 tcagaggcat cacaagtaat ggcacaattc ttcggatgac tgcagaaaat agtgttttgt
     1861 agttcaacaa ctcaagacga agcttatttc tgaggataag ctctttaaag gcaaagcttt
     1921 attttcatct ctcatctttt gtcctcctta gcacaatgta aaaaagaata gtaatatcag
     1981 aacaggaagg aggaatggct tgctggggag cccatccagg acactgggag cacatagaga
     2041 ttcacccatg tttgttgaac ttagagtcat tctcatgctt ttctttataa ttcacacata
     2101 tatgcagaga agatatgttc ttgttaacat tgtatacaac atagccccaa atatagtaag
     2161 atctatacta gataatccta gatgaaatgt tagagatgct atatgataca actgtggcca
     2221 tgactgagga aaggagctca cgcccagaga ctgggctgct ctcccggagg ccaaacccaa
     2281 gaaggtctgg caaagtcagg ctcagggaga ctctgccctg ctgcagacct cggtgtggac
     2341 acacgctgca tagagctctc cttgaaaaca gaggggtctc aagacattct gcctacctat
     2401 tagcttttct ttattttttt aactttttgg ggggaaaagt atttttgaga agtttgtctt
     2461 gcaatgtatt tataaatagt aaataaagtt tttaccatta aaaaaatatc tttccctttg
     2521 ttattgacca tctctgggct ttgtatcact aattatttta ttttattata taataattat
     2581 tttattataa taaaatcctg aaaggggaaa ata
//
LOCUS       NM_000599               6239 bp    mRNA    linear   PRI 26-MAR-2023
DEFINITION  Homo sapiens insulin like growth factor binding protein 5 (IGFBP5),
            mRNA.
ACCESSION   NM_000599
VERSION     NM_000599.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6239)
  AUTHORS   Lin W, Niu R, Park SM, Zou Y, Kim SS, Xia X, Xing S, Yang Q, Sun X,
            Yuan Z, Zhou S, Zhang D, Kwon HJ, Park S, Il Kim C, Koo H, Liu Y, Wu
            H, Zheng M, Yoo H, Shi B, Park JB and Yin J.
  TITLE     IGFBP5 is an ROR1 ligand promoting glioblastoma invasion via
            ROR1/HER2-CREB signaling axis
  JOURNAL   Nat Commun 14 (1), 1578 (2023)
   PUBMED   36949068
  REMARK    GeneRIF: IGFBP5 is an ROR1 ligand promoting glioblastoma invasion
            via ROR1/HER2-CREB signaling axis. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6239)
  AUTHORS   Sher AA, Lao YT and Coombs KM.
  TITLE     HLA-A, HSPA5, IGFBP5 and PSMA2 Are Restriction Factors for Zika
            Virus Growth in Astrocytic Cells
  JOURNAL   Viruses 15 (1), 97 (2022)
   PUBMED   36680137
  REMARK    GeneRIF: HLA-A, HSPA5, IGFBP5 and PSMA2 Are Restriction Factors for
            Zika Virus Growth in Astrocytic Cells. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 6239)
  AUTHORS   Rauskolb S, Andreska T, Fries S, von Collenberg CR, Blum R, Monoranu
            CM, Villmann C and Sendtner M.
  TITLE     Insulin-like growth factor 5 associates with human Ass plaques and
            promotes cognitive impairment
  JOURNAL   Acta Neuropathol Commun 10 (1), 68 (2022)
   PUBMED   35513854
  REMARK    GeneRIF: Insulin-like growth factor 5 associates with human Ass
            plaques and promotes cognitive impairment. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 6239)
  AUTHORS   Nguyen XX, Renaud L and Feghali-Bostwick C.
  TITLE     Identification of Impacted Pathways and Transcriptomic Markers as
            Potential Mediators of Pulmonary Fibrosis in Transgenic Mice
            Expressing Human IGFBP5
  JOURNAL   Int J Mol Sci 22 (22), 12609 (2021)
   PUBMED   34830489
  REMARK    GeneRIF: Identification of Impacted Pathways and Transcriptomic
            Markers as Potential Mediators of Pulmonary Fibrosis in Transgenic
            Mice Expressing Human IGFBP5. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6239)
  AUTHORS   Zhang ZM, Min L, Jiang DL, Han ZY and Wang LH.
  TITLE     Insulin-Like Growth Factor Binding Protein 5: an Important Regulator
            of Early Osteogenic Differentiation of hMSCs
  JOURNAL   Folia Biol (Praha) 67 (3), 118-125 (2021)
   PUBMED   35151245
  REMARK    GeneRIF: Insulin-Like Growth Factor Binding Protein 5: an Important
            Regulator of Early Osteogenic Differentiation of hMSCs.
REFERENCE   6  (bases 1 to 6239)
  AUTHORS   Ilvesmaki V, Blum WF and Voutilainen R.
  TITLE     Insulin-like growth factor binding proteins in the human adrenal
            gland
  JOURNAL   Mol Cell Endocrinol 97 (1-2), 71-79 (1993)
   PUBMED   7511544
REFERENCE   7  (bases 1 to 6239)
  AUTHORS   Shimasaki S, Shimonaka M, Zhang HP and Ling N.
  TITLE     Identification of five different insulin-like growth factor binding
            proteins (IGFBPs) from adult rat serum and molecular cloning of a
            novel IGFBP-5 in rat and human
  JOURNAL   J Biol Chem 266 (16), 10646-10653 (1991)
   PUBMED   1709938
REFERENCE   8  (bases 1 to 6239)
  AUTHORS   Ehrenborg E, Vilhelmsdotter S, Bajalica S, Larsson C, Stern I, Koch
            J, Brondum-Nielsen K and Luthman H.
  TITLE     Structure and localization of the human insulin-like growth
            factor-binding protein 2 gene
  JOURNAL   Biochem Biophys Res Commun 176 (3), 1250-1255 (1991)
   PUBMED   1710112
REFERENCE   9  (bases 1 to 6239)
  AUTHORS   Kiefer MC, Ioh RS, Bauer DM and Zapf J.
  TITLE     Molecular cloning of a new human insulin-like growth factor binding
            protein
  JOURNAL   Biochem Biophys Res Commun 176 (1), 219-225 (1991)
   PUBMED   1850258
REFERENCE   10  (bases 1 to 6239)
  AUTHORS   Andress DL and Birnbaum RS.
  TITLE     A novel human insulin-like growth factor binding protein secreted by
            osteoblast-like cells
  JOURNAL   Biochem Biophys Res Commun 176 (1), 213-218 (1991)
   PUBMED   1850257
  REMARK    Erratum:[Biochem Biophys Res Commun 1991 Jun 14;177(2):895]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF055033.1, ERR279874.3369.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000233813.5/ ENSP00000233813.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007563.2.
            On Nov 23, 2018 this sequence version replaced NM_000599.3.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6239
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..6239
                     /gene="IGFBP5"
                     /gene_synonym="IBP5"
                     /note="insulin like growth factor binding protein 5"
                     /db_xref="GeneID:3488"
                     /db_xref="HGNC:HGNC:5474"
                     /db_xref="MIM:146734"
     misc_feature    766..768
                     /gene="IGFBP5"
                     /gene_synonym="IBP5"
                     /note="upstream in-frame stop codon"
     CDS             775..1593
                     /gene="IGFBP5"
                     /gene_synonym="IBP5"
                     /note="IBP-5; IGFBP-5; IGF-binding protein 5"
                     /codon_start=1
                     /product="insulin-like growth factor-binding protein 5
                     precursor"
                     /protein_id="NP_000590.1"
                     /db_xref="CCDS:CCDS2405.1"
                     /db_xref="GeneID:3488"
                     /db_xref="HGNC:HGNC:5474"
                     /db_xref="MIM:146734"
                     /translation="MVLLTAVLLLLAAYAGPAQSLGSFVHCEPCDEKALSMCPPSPLGC
                     ELVKEPGCGCCMTCALAEGQSCGVYTERCAQGLRCLPRQDEEKPLHALLHGRGVCLNEK
                     SYREQVKIERDSREHEEPTTSEMAEETYSPKIFRPKHTRISELKAEAVKKDRRKKLTQS
                     KFVGGAENTAHPRIISAPEMRQESEQGPCRRHMEASLQELKASPRMVPRAVYLPNCDRK
                     GFYKRKQCKPSRGRKRGICWCVDKYGMKLPGMEYVDGDFQCHTFDSSNVE"
     sig_peptide     775..834
                     /gene="IGFBP5"
                     /gene_synonym="IBP5"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    1105..1164
                     /gene="IGFBP5"
                     /gene_synonym="IBP5"
                     /note="propagated from UniProtKB/Swiss-Prot (P24593.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1120..1122
                     /gene="IGFBP5"
                     /gene_synonym="IBP5"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P24593.1); phosphorylation site"
     misc_feature    1288..1290
                     /gene="IGFBP5"
                     /gene_synonym="IBP5"
                     /note="O-linked (HexNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:9883900; propagated from
                     UniProtKB/Swiss-Prot (P24593.1); glycosylation site"
     regulatory      6218..6223
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGFBP5"
                     /gene_synonym="IBP5"
                     /note="hexamer: AATAAA"
     polyA_site      6239
                     /gene="IGFBP5"
                     /gene_synonym="IBP5"
                     /note="major polyA site"
ORIGIN
        1 gtagtctctt tggaaacttc tgcaggggaa aagagctagg aaagagctgc aaagcagtgt
       61 gggctttttc ccttttttgc tccttttcat tacccctcct ccgttttcac ccttctccgg
      121 acttcgcgta gaacctgcga atttcgaaga ggaggtggca aagtgggaga aaagaggtgt
      181 tagggtttgg ggtttttttg tttttgtttt tgttttttaa tttcttgatt tcaacatttt
      241 ctcccaccct ctcggctgca gccaacgcct cttacctgtt ctgcggcgcc gcgcaccgct
      301 ggcagctgag ggttagaaag cggggtgtat tttagatttt aagcaaaaat tttaaagata
      361 aatccatttt tctctcccac ccccaacgcc atctccactg catccgatct cattatttcg
      421 gtggttgctt gggggtgaac aattttgtgg ctttttttcc cctataattc tgacccgctc
      481 aggcttgagg gtttctccgg cctccgctca ctgcgtgcac ctggcgctgc cctgcttccc
      541 ccaacctgtt gcaaggcttt aattcttgca actgggacct gctcgcaggc accccagccc
      601 tccacctctc tctacatttt tgcaagtgtc tgggggaggg cacctgctct acctgccaga
      661 aattttaaaa caaaaacaaa aacaaaaaaa tctccggggg ccctcttggc ccctttatcc
      721 ctgcactctc gctctcctgc cccaccccga ggtaaagggg gcgactaaga gaagatggtg
      781 ttgctcaccg cggtcctcct gctgctggcc gcctatgcgg ggccggccca gagcctgggc
      841 tccttcgtgc actgcgagcc ctgcgacgag aaagccctct ccatgtgccc ccccagcccc
      901 ctgggctgcg agctggtcaa ggagccgggc tgcggctgct gcatgacctg cgccctggcc
      961 gaggggcagt cgtgcggcgt ctacaccgag cgctgcgccc aggggctgcg ctgcctcccc
     1021 cggcaggacg aggagaagcc gctgcacgcc ctgctgcacg gccgcggggt ttgcctcaac
     1081 gaaaagagct accgcgagca agtcaagatc gagagagact cccgtgagca cgaggagccc
     1141 accacctctg agatggccga ggagacctac tcccccaaga tcttccggcc caaacacacc
     1201 cgcatctccg agctgaaggc tgaagcagtg aagaaggacc gcagaaagaa gctgacccag
     1261 tccaagtttg tcgggggagc cgagaacact gcccaccccc ggatcatctc tgcacctgag
     1321 atgagacagg agtctgagca gggcccctgc cgcagacaca tggaggcttc cctgcaggag
     1381 ctcaaagcca gcccacgcat ggtgccccgt gctgtgtacc tgcccaattg tgaccgcaaa
     1441 ggattctaca agagaaagca gtgcaaacct tcccgtggcc gcaaacgtgg catctgctgg
     1501 tgcgtggaca agtacgggat gaagctgcca ggcatggagt acgttgacgg ggactttcag
     1561 tgccacacct tcgacagcag caacgttgag tgatgcgtcc ccccccaacc tttccctcac
     1621 cccctcccac ccccagcccc gactccagcc agcgcctccc tccaccccag gacgccactc
     1681 atttcatctc atttaaggga aaaatatata tctatctatt tgaggaaact gaggacctcg
     1741 gaatctctag caagggctca acttcgaaaa tggcaacaac agagatgcaa aaagctaaaa
     1801 agacaccccc cccctttaaa tggttttctt tttgaggcaa gttggatgaa cagagaaggg
     1861 aagagaggaa gaacgagagg aagagaaggg aaggaagtgt ttgtgtagaa gagagagaaa
     1921 gacgaataga gttaggaaaa ggaagacaag caggtgggca ggaaggacat gcaccgagac
     1981 caggcagggg cccaactttc acgtccagcc ctggcctggg gtcgggagag gtgggcgcta
     2041 gaagatgcag cccaggatgt ggcaatcaat gacactattg gggtttccca ggatggattg
     2101 gtcaggggga gaaaggaaaa ggcaaaacac tccaggacct ctcccggatc tgtctcctcc
     2161 tctagccagc agtatggaca gctggacccc tgaacttcct ctcctcttac ctgggcagag
     2221 tgttgtctct ccccaaattt ataaaaacta aaatgcattc cattcctctg aaagcaaaac
     2281 aaattcataa ttgagtgata ttaaatagag aggttttcgg aagcagatct gtgaatatga
     2341 aatacatgtg catatttcat tccccaggca gacatttttt agaaatcaat acatgcccca
     2401 atattggaaa gacttgttct tccacggtga ctacagtaca tgctgaagcg tgccgtttca
     2461 gccctcattt aattcaattt gtaagtagcg cagcagcctc tgtgggggag gataggctga
     2521 aaaaaaaaag tgggctcgta tttatctaca ggactccata tagtcatata taggcatata
     2581 aatctattct ttttctttgt ttttttcttt cttcctttct ttcaaaggtt tgcattaact
     2641 tttcaaagta gttcctatag gggcattgag gagcttcctc attctgggaa aactgagaaa
     2701 acccatattc tcctaataca acccgtaata gcatttttgc ctgcctcgag gcagagtttc
     2761 ccgtgagcaa taaactcagc ttttttgtgg ggcacagtac tggatttgac agtgattccc
     2821 cacgtgtgtt catctgcacc caccgagcca ggcagaggcc agccctccgt ggtgcacaca
     2881 gcacgcgcct cagtccatcc cattttagtc tttaaaccct caggaagtca cagtctccgg
     2941 acaccacacc acatgagccc aacaggtcca cgatggatcc accagtccca ccccagcctt
     3001 ttcctttcat ctgaacagaa tgtgcatttt tggaagcctc cctcactctc catgctggca
     3061 gagcaggagg gagactgaag taagagatgg cagagggaga tggtggcaaa aaggtttaga
     3121 tgcaggagaa cagtaagatg gatggttccg gccagagtcg atgtggggag gaacagaggg
     3181 ctgaagggag agggggctga ctgttccatt ctagctttgg cacaaagcag cagaaagggg
     3241 gaaaagccaa tagaaatttc cttagcttcc ccaccatatg tattttctag gatttgagag
     3301 gaaagagagg aaaatggggg aatgggttgc aaaatagaaa tgagcttaat ccaggccgca
     3361 gagccaggga aggtgagtaa ctttaggagg gtgctagact ttagaagcca gataggaaga
     3421 atcagtctaa actggccatg ctttggaagg gacaagacta tgtgctccgc tgcccacctt
     3481 cagcctgcaa tgagggactg aggcccacga gtctttccag ctcttcctcc attctggcca
     3541 gtccctgcat cctccctggg gtggaggatg gaaggaaagc tgggacaagc agggaacgca
     3601 tgattcaggg atgctgtcac tcggcagcca gattccgaaa ctcccattct ccaatgactt
     3661 cctcaaccaa tgggtggcct tgtgactgtt ctttaaggct gaagatatcc aggaaagggg
     3721 gcttggacac tggccaagga gaccccttcg tgctgtggac acagctctct tcactctttg
     3781 ctcatggcat gacacagcgg agaccgcctc caacaacgaa tttggggcta cgaagaggaa
     3841 tagcgaaaaa gcaaatctgt ttcaactgat gggaacccta tagctataga acttgggggc
     3901 tatctcctat gcccctggac aggacagttg gctggggaca ggagaagtgc tcaatcttca
     3961 tgagacaaag gggcccgata gggccagcag ccacaaggcc ttgacctgcc gagtcagcat
     4021 gccccatctc tctgcacagc tgtcccctaa acccaactca cgtttctgta tgtcttaggc
     4081 cagtatccca aacctcttcc acgtcactgt tctttccacc cattctccct ttgcatcttg
     4141 agcagttatc caactaggat ctgccaagtg gatactgggg tgccactccc ctgagaaaag
     4201 actgagccag gaactacaag ctccccccac attcctccca gcctggacct aattcttgag
     4261 aggggctctc tcttcacgga ctgtgtctgg actttgagca ggcttctgcc ccttgcgttg
     4321 gctctttgct gccagccatc aggtggggga ttagagcctg gtgtaagtgc gccagactct
     4381 tccggtttcc aaagttcgtg cctgcgaacc caaacctgtg agtctcttct gcatgcagga
     4441 gtttctcctg ggcagctggt cactccccag agaagctggg ccttcatgga cacatggaac
     4501 taagcctccc aaatgggagt tctggctgag cccagggtgg ggagatcctg ggaagggagg
     4561 cactggagga agacggcacc tcttccccca tggcagggtg tgagggaggc aggtttggaa
     4621 tggtgcgagt atggcaatct aagcaggggt ctggtctctt tgactccagg ctggcctttg
     4681 gccgactgtc tgctcaccca gagaccttgg actccggact atccatggct ccgaatctaa
     4741 gtgctgccca ctcccatgct cacacccaca gaaggtcttc ccatcccctt tagattcgtg
     4801 cctcactcca ccagtgagga agatgcctct gtctttccca cgactgccag gagataggga
     4861 agcccagcca ggactgaccc tccttcctcc agcctgccct gacccacctg gcaaagcagg
     4921 gcacatgggg aggaagagac tggaaccttt ctttgacagc caggcctaga cagacaggcc
     4981 tggggacact ggccccatga ggggaggaag gcaggcgcac gaggtccagg gaggcccttt
     5041 tctgatcatg ccccttctct cccaccccat ctccccacca ccacctctgt ggcctccatg
     5101 gtacccccac agggctggcc tcccctagag ggtgggcctc aaccacctgc tcccgccacg
     5161 caccggttag tgagacaggg ctgccacggc aaccgccaag cccccctcaa ggtgggacag
     5221 taccccggac ccatccactc actcctgaga gggctccggc ccagaatggg aacctcagag
     5281 aagagctcta aggagaagaa accccatagc gtcagagagg atatgtctgg cttccaagag
     5341 aaaggaggct ccgttttgca aagtggagga gggacgaggg acaggggttt caccagccag
     5401 caacctgggc cttgtactgt ctgtgttttt aaaaccacta aagtgcaaga attacattgc
     5461 actgtttctc cactttttat tttctcttag gcttttgttt ctatttcaaa catactttct
     5521 tggttttcta atggagtata tagtttagtc atttcacaga ctctggcctc ctctcctgaa
     5581 atccttttgg atggggaaag ggaaggtggg gagggtccga ggggaagggg accccagctt
     5641 ccctgtgccc gctcacccca ctccaccagt ccccggtcgc cagccggagt ctcctctcta
     5701 ccgccactgt cacaccgtag cccacatgga tagcacagtt gtcagacaag attccttcag
     5761 attccgagtt gcctaccggt tgttttcgtt gttgttgttg ttgtttttct ttttcttttt
     5821 ttttttgaag acagcaataa ccacagtaca tattactgta gttctctata gttttacata
     5881 cattcatacc ataactctgt tctctcctct tttttgtttt caactttaaa aacaaaaata
     5941 aacgatgata atctttactg gtgaaaagga tggaaaaata aatcaacaaa tgcaaccagt
     6001 ttgtgagaaa aaaaaaaaaa agccgaaaaa aaaaaaaaaa acacctgaat gcggaagagc
     6061 tcggctcccg tttagcattt tgtacttaag gaaataaaaa accaacaaag gatctcacat
     6121 tttcttaaaa agtgaagatt gctgtatact atttattcaa cttataattt atgttactcc
     6181 ttgatctttg tcttttgtca tgacaaagca tttatttaat aaagttatgc attcagtta
//
LOCUS       NM_000600               1127 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens interleukin 6 (IL6), transcript variant 1, mRNA.
ACCESSION   NM_000600
VERSION     NM_000600.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1127)
  AUTHORS   Xiao L, Yang JP and Wang W.
  TITLE     [Application of TIGIT combined with interleukin-6 detection in the
            evaluation of Crohn's disease status]
  JOURNAL   Zhonghua Yu Fang Yi Xue Za Zhi 57 (8), 1253-1258 (2023)
   PUBMED   37574320
  REMARK    GeneRIF: [Application of TIGIT combined with interleukin-6 detection
            in the evaluation of Crohn's disease status].
REFERENCE   2  (bases 1 to 1127)
  AUTHORS   Kwon MJ, Kim JH, Kim KJ, Ko EJ, Lee JY, Ryu CS, Ha YH, Kim YR and
            Kim NK.
  TITLE     Genetic Association between Inflammatory-Related Polymorphism in
            STAT3, IL-1beta, IL-6, TNF-alpha and Idiopathic Recurrent
            Implantation Failure
  JOURNAL   Genes (Basel) 14 (8), 1588 (2023)
   PUBMED   37628639
  REMARK    GeneRIF: Genetic Association between Inflammatory-Related
            Polymorphism in STAT3, IL-1beta, IL-6, TNF-alpha and Idiopathic
            Recurrent Implantation Failure. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1127)
  AUTHORS   Pourroostaei Ardakani P, Abkhiz S, Sheykhi K, Adhami Mojarad K,
            Rahimi B, Panahi M and Hooshmand M.
  TITLE     Molecular Investigation of the Association Among Common
            Interleukin-6 Polymorphism and Human Papillomavirus Genotypes with
            Cervical Cancer Among Iranian Women
  JOURNAL   Monoclon Antib Immunodiagn Immunother 42 (4), 125-131 (2023)
   PUBMED   37624608
  REMARK    GeneRIF: Molecular Investigation of the Association Among Common
            Interleukin-6 Polymorphism and Human Papillomavirus Genotypes with
            Cervical Cancer Among Iranian Women.
REFERENCE   4  (bases 1 to 1127)
  AUTHORS   S Teixeira LF and Bellini MH.
  TITLE     NF-kBeta1 knockout reduces IL6 expression under hypoxia in renal
            cell carcinoma
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 69 (6), 8-14 (2023)
   PUBMED   37605597
  REMARK    GeneRIF: NF-kBeta1 knockout reduces IL6 expression under hypoxia in
            renal cell carcinoma. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1127)
  AUTHORS   Kikkert R, de Groot ER and Aarden LA.
  TITLE     Cytokine induction by pyrogens: comparison of whole blood,
            mononuclear cells, and TLR-transfectants
  JOURNAL   J Immunol Methods 336 (1), 45-55 (2008)
   PUBMED   18456276
REFERENCE   6  (bases 1 to 1127)
  AUTHORS   Dinarello CA.
  TITLE     Infection, fever, and exogenous and endogenous pyrogens: some
            concepts have changed
  JOURNAL   J Endotoxin Res 10 (4), 201-222 (2004)
   PUBMED   15373964
  REMARK    Review article
REFERENCE   7  (bases 1 to 1127)
  AUTHORS   Chen QY.
  TITLE     [Stable and efficient expression of human interleukin-6 cDNA in
            mammalian cells after gene transfer]
  JOURNAL   Zhonghua Zhong Liu Za Zhi 14 (5), 340-344 (1992)
   PUBMED   1291290
REFERENCE   8  (bases 1 to 1127)
  AUTHORS   May LT and Sehgal PB.
  TITLE     Phosphorylation of interleukin-6 at serine54: an early event in the
            secretory pathway in human fibroblasts
  JOURNAL   Biochem Biophys Res Commun 185 (2), 524-530 (1992)
   PUBMED   1610348
REFERENCE   9  (bases 1 to 1127)
  AUTHORS   May LT, Shaw JE, Khanna AK, Zabriskie JB and Sehgal PB.
  TITLE     Marked cell-type-specific differences in glycosylation of human
            interleukin-6
  JOURNAL   Cytokine 3 (3), 204-211 (1991)
   PUBMED   1883960
REFERENCE   10  (bases 1 to 1127)
  AUTHORS   Sandler,N.H.
  TITLE     A case of meningitis admitted as schizophrenia
  JOURNAL   J Ky Med Assoc 73 (1), 25-26 (1975)
   PUBMED   1113021
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC015511.1, M14584.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related         :: relevant for COVID-19 prognosis
            MANE Ensembl match          :: ENST00000258743.10/ ENSP00000258743.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK301141.1 and BC015511.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 7, 2018 this sequence version replaced NM_000600.4.
            Summary: This gene encodes a cytokine that functions in
            inflammation and the maturation of B cells. In addition, the
            encoded protein has been shown to be an endogenous pyrogen capable
            of inducing fever in people with autoimmune diseases or infections.
            The protein is primarily produced at sites of acute and chronic
            inflammation, where it is secreted into the serum and induces a
            transcriptional inflammatory response through interleukin 6
            receptor, alpha. The functioning of this gene is implicated in a
            wide variety of inflammation-associated disease states, including
            suspectibility to diabetes mellitus and systemic juvenile
            rheumatoid arthritis. Elevated levels of the encoded protein have
            been found in virus infections, including COVID-19 (disease caused
            by SARS-CoV-2). [provided by RefSeq, Aug 2020].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1127
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.3"
     gene            1..1127
                     /gene="IL6"
                     /gene_synonym="BSF-2; BSF2; CDF; HGF; HSF; IFN-beta-2;
                     IFNB2; IL-6"
                     /note="interleukin 6"
                     /db_xref="GeneID:3569"
                     /db_xref="HGNC:HGNC:6018"
                     /db_xref="MIM:147620"
     CDS             64..702
                     /gene="IL6"
                     /gene_synonym="BSF-2; BSF2; CDF; HGF; HSF; IFN-beta-2;
                     IFNB2; IL-6"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; hybridoma growth factor; interleukin BSF-2; B-cell
                     differentiation factor; CTL differentiation factor;
                     interferon beta-2; B-cell stimulatory factor 2"
                     /codon_start=1
                     /product="interleukin-6 isoform 1 precursor"
                     /protein_id="NP_000591.1"
                     /db_xref="CCDS:CCDS5375.1"
                     /db_xref="GeneID:3569"
                     /db_xref="HGNC:HGNC:6018"
                     /db_xref="MIM:147620"
                     /translation="MNSFSTSAFGPVAFSLGLLLVLPAAFPAPVPPGEDSKDVAAPHRQ
                     PLTSSERIDKQIRYILDGISALRKETCNKSNMCESSKEALAENNLNLPKMAEKDGCFQS
                     GFNEETCLVKIITGLLEFEVYLEYLQNRFESSEEQARAVQMSTKVLIQFLQKKAKNLDA
                     ITTPDPTTNASLLTKLQAQNQWLQDMTTHLILRSFKEFLQSSLRALRQM"
     sig_peptide     64..150
                     /gene="IL6"
                     /gene_synonym="BSF-2; BSF2; CDF; HGF; HSF; IFN-beta-2;
                     IFNB2; IL-6"
                     /note="/evidence=ECO:0000269|PubMed:1883960,
                     ECO:0000269|PubMed:2610854, ECO:0000269|PubMed:3279116;
                     propagated from UniProtKB/Swiss-Prot (P05231.1)"
     mat_peptide     151..699
                     /gene="IL6"
                     /gene_synonym="BSF-2; BSF2; CDF; HGF; HSF; IFN-beta-2;
                     IFNB2; IL-6"
                     /product="Interleukin-6. /id=PRO_0000015582"
                     /note="propagated from UniProtKB/Swiss-Prot (P05231.1)"
     misc_feature    280..282
                     /gene="IL6"
                     /gene_synonym="BSF-2; BSF2; CDF; HGF; HSF; IFN-beta-2;
                     IFNB2; IL-6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:1883960; propagated from
                     UniProtKB/Swiss-Prot (P05231.1); glycosylation site"
     misc_feature    304..306
                     /gene="IL6"
                     /gene_synonym="BSF-2; BSF2; CDF; HGF; HSF; IFN-beta-2;
                     IFNB2; IL-6"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P05231.1); phosphorylation site"
     regulatory      1103..1108
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL6"
                     /gene_synonym="BSF-2; BSF2; CDF; HGF; HSF; IFN-beta-2;
                     IFNB2; IL-6"
                     /note="hexamer: AATAAA"
     polyA_site      1127
                     /gene="IL6"
                     /gene_synonym="BSF-2; BSF2; CDF; HGF; HSF; IFN-beta-2;
                     IFNB2; IL-6"
                     /note="major polyA site"
ORIGIN
        1 attctgccct cgagcccacc gggaacgaaa gagaagctct atctcccctc caggagccca
       61 gctatgaact ccttctccac aagcgccttc ggtccagttg ccttctccct ggggctgctc
      121 ctggtgttgc ctgctgcctt ccctgcccca gtacccccag gagaagattc caaagatgta
      181 gccgccccac acagacagcc actcacctct tcagaacgaa ttgacaaaca aattcggtac
      241 atcctcgacg gcatctcagc cctgagaaag gagacatgta acaagagtaa catgtgtgaa
      301 agcagcaaag aggcactggc agaaaacaac ctgaaccttc caaagatggc tgaaaaagat
      361 ggatgcttcc aatctggatt caatgaggag acttgcctgg tgaaaatcat cactggtctt
      421 ttggagtttg aggtatacct agagtacctc cagaacagat ttgagagtag tgaggaacaa
      481 gccagagctg tgcagatgag tacaaaagtc ctgatccagt tcctgcagaa aaaggcaaag
      541 aatctagatg caataaccac ccctgaccca accacaaatg ccagcctgct gacgaagctg
      601 caggcacaga accagtggct gcaggacatg acaactcatc tcattctgcg cagctttaag
      661 gagttcctgc agtccagcct gagggctctt cggcaaatgt agcatgggca cctcagattg
      721 ttgttgttaa tgggcattcc ttcttctggt cagaaacctg tccactgggc acagaactta
      781 tgttgttctc tatggagaac taaaagtatg agcgttagga cactatttta attattttta
      841 atttattaat atttaaatat gtgaagctga gttaatttat gtaagtcata tttatatttt
      901 taagaagtac cacttgaaac attttatgta ttagttttga aataataatg gaaagtggct
      961 atgcagtttg aatatccttt gtttcagagc cagatcattt cttggaaagt gtaggcttac
     1021 ctcaaataaa tggctaactt atacatattt ttaaagaaat atttatattg tatttatata
     1081 atgtataaat ggtttttata ccaataaatg gcattttaaa aaattca
//
LOCUS       NM_000601               5834 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens hepatocyte growth factor (HGF), transcript variant 1,
            mRNA.
ACCESSION   NM_000601
VERSION     NM_000601.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5834)
  AUTHORS   Wang B, Liu W, Liu C, Du K, Guo Z, Zhang G, Huang Z, Lin S, Cen B,
            Tian Y, Yuan Y and Bu J.
  TITLE     Cancer-Associated Fibroblasts Promote Radioresistance of Breast
            Cancer Cells via the HGF/c-Met Signaling Pathway
  JOURNAL   Int J Radiat Oncol Biol Phys 116 (3), 640-654 (2023)
   PUBMED   36586496
  REMARK    GeneRIF: Cancer-Associated Fibroblasts Promote Radioresistance of
            Breast Cancer Cells via the HGF/c-Met Signaling Pathway.
REFERENCE   2  (bases 1 to 5834)
  AUTHORS   Erlmeier M, Mikuteit M, Zschabitz S, Autenrieth M, Weichert W,
            Hartmann A, Steffens S and Erlmeier F.
  TITLE     Immunohistochemical expression of the hepatocyte growth factor in
            chromophobe renal cell carcinoma
  JOURNAL   BMC Urol 23 (1), 90 (2023)
   PUBMED   37170275
  REMARK    GeneRIF: Immunohistochemical expression of the hepatocyte growth
            factor in chromophobe renal cell carcinoma. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 5834)
  AUTHORS   Saunders JT, Kumar S, Benavides-Serrato A, Holmes B, Benavides KE,
            Bashir MT, Nishimura RN and Gera J.
  TITLE     Translation of circHGF RNA encodes an HGF protein variant promoting
            glioblastoma growth through stimulation of c-MET
  JOURNAL   J Neurooncol 163 (1), 207-218 (2023)
   PUBMED   37162666
  REMARK    GeneRIF: Translation of circHGF RNA encodes an HGF protein variant
            promoting glioblastoma growth through stimulation of c-MET.
REFERENCE   4  (bases 1 to 5834)
  AUTHORS   Unek IT, Oztop I, Basbinar Y, Unek T, Leblebici A, Cakiroglu E,
            Uysal T, Akagunduz B, Ellidokuz H and Astarcioglu I.
  TITLE     Association of Serum Hepatocyte Growth Factor Level with Systemic
            Inflammatory Biomarkers in Patients with Pancreatobiliary Cancer
  JOURNAL   Turk J Gastroenterol 34 (5), 568-575 (2023)
   PUBMED   36789987
  REMARK    GeneRIF: Association of Serum Hepatocyte Growth Factor Level with
            Systemic Inflammatory Biomarkers in Patients with Pancreatobiliary
            Cancer.
REFERENCE   5  (bases 1 to 5834)
  AUTHORS   Nakamura T, Sakai K, Nakamura T and Matsumoto K.
  TITLE     Hepatocyte growth factor twenty years on: Much more than a growth
            factor
  JOURNAL   J Gastroenterol Hepatol 26 Suppl 1, 188-202 (2011)
   PUBMED   21199531
  REMARK    Review article
REFERENCE   6  (bases 1 to 5834)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Schaefer,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301607
REFERENCE   7  (bases 1 to 5834)
  AUTHORS   Hartmann G, Naldini L, Weidner KM, Sachs M, Vigna E, Comoglio PM and
            Birchmeier W.
  TITLE     A functional domain in the heavy chain of scatter factor/hepatocyte
            growth factor binds the c-Met receptor and induces cell dissociation
            but not mitogenesis
  JOURNAL   Proc Natl Acad Sci U S A 89 (23), 11574-11578 (1992)
   PUBMED   1280830
REFERENCE   8  (bases 1 to 5834)
  AUTHORS   Naka D, Ishii T, Yoshiyama Y, Miyazawa K, Hara H, Hishida T and
            Kidamura N.
  TITLE     Activation of hepatocyte growth factor by proteolytic conversion of
            a single chain form to a heterodimer
  JOURNAL   J Biol Chem 267 (28), 20114-20119 (1992)
   PUBMED   1328193
REFERENCE   9  (bases 1 to 5834)
  AUTHORS   Lokker NA, Mark MR, Luis EA, Bennett GL, Robbins KA, Baker JB and
            Godowski PJ.
  TITLE     Structure-function analysis of hepatocyte growth factor:
            identification of variants that lack mitogenic activity yet retain
            high affinity receptor binding
  JOURNAL   EMBO J 11 (7), 2503-2510 (1992)
   PUBMED   1321034
REFERENCE   10  (bases 1 to 5834)
  AUTHORS   Miyazawa K, Tsubouchi H, Naka D, Takahashi K, Okigaki M, Arakaki N,
            Nakayama H, Hirono S, Sakiyama O, Takahashi K et al.
  TITLE     Molecular cloning and sequence analysis of cDNA for human hepatocyte
            growth factor
  JOURNAL   Biochem Biophys Res Commun 163 (2), 967-973 (1989)
   PUBMED   2528952
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X16323.1, SRR14038192.3249490.1
            [ECO:0000332]
            RNAseq introns :: mixed/partial sample support SAMEA1965299,
            SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000222390.11/ ENSP00000222390.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX495370.1, BU533235.1,
            M29145.1, M73240.1, AC004960.1 and AV701693.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000601.5.
            Summary: This gene encodes a protein that binds to the hepatocyte
            growth factor receptor to regulate cell growth, cell motility and
            morphogenesis in numerous cell and tissue types. Alternative
            splicing results in multiple transcript variants, at least one of
            which encodes a preproprotein that is proteolytically processed to
            generate alpha and beta chains, which form the mature heterodimer.
            This protein is secreted by mesenchymal cells and acts as a
            multi-functional cytokine on cells of mainly epithelial origin.
            This protein also plays a role in angiogenesis, tumorogenesis, and
            tissue regeneration. Although the encoded protein is a member of
            the peptidase S1 family of serine proteases, it lacks peptidase
            activity. Mutations in this gene are associated with nonsyndromic
            hearing loss. [provided by RefSeq, Nov 2015].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5834
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.11"
     gene            1..5834
                     /gene="HGF"
                     /gene_synonym="DFNB39; F-TCF; HGFB; HPTA; SF"
                     /note="hepatocyte growth factor"
                     /db_xref="GeneID:3082"
                     /db_xref="HGNC:HGNC:4893"
                     /db_xref="MIM:142409"
     CDS             77..2263
                     /gene="HGF"
                     /gene_synonym="DFNB39; F-TCF; HGFB; HPTA; SF"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; fibroblast-derived tumor cytotoxic factor; lung
                     fibroblast-derived mitogen; hepatopoietin-A; hepatocyte
                     growth factor (hepapoietin A; scatter factor)"
                     /codon_start=1
                     /product="hepatocyte growth factor isoform 1 preproprotein"
                     /protein_id="NP_000592.3"
                     /db_xref="CCDS:CCDS5597.1"
                     /db_xref="GeneID:3082"
                     /db_xref="HGNC:HGNC:4893"
                     /db_xref="MIM:142409"
                     /translation="MWVTKLLPALLLQHVLLHLLLLPIAIPYAEGQRKRRNTIHEFKKS
                     AKTTLIKIDPALKIKTKKVNTADQCANRCTRNKGLPFTCKAFVFDKARKQCLWFPFNSM
                     SSGVKKEFGHEFDLYENKDYIRNCIIGKGRSYKGTVSITKSGIKCQPWSSMIPHEHSFL
                     PSSYRGKDLQENYCRNPRGEEGGPWCFTSNPEVRYEVCDIPQCSEVECMTCNGESYRGL
                     MDHTESGKICQRWDHQTPHRHKFLPERYPDKGFDDNYCRNPDGQPRPWCYTLDPHTRWE
                     YCAIKTCADNTMNDTDVPLETTECIQGQGEGYRGTVNTIWNGIPCQRWDSQYPHEHDMT
                     PENFKCKDLRENYCRNPDGSESPWCFTTDPNIRVGYCSQIPNCDMSHGQDCYRGNGKNY
                     MGNLSQTRSGLTCSMWDKNMEDLHRHIFWEPDASKLNENYCRNPDDDAHGPWCYTGNPL
                     IPWDYCPISRCEGDTTPTIVNLDHPVISCAKTKQLRVVNGIPTRTNIGWMVSLRYRNKH
                     ICGGSLIKESWVLTARQCFPSRDLKDYEAWLGIHDVHGRGDEKCKQVLNVSQLVYGPEG
                     SDLVLMKLARPAVLDDFVSTIDLPNYGCTIPEKTSCSVYGWGYTGLINYDGLLRVAHLY
                     IMGNEKCSQHHRGKVTLNESEICAGAEKIGSGPCEGDYGGPLVCEQHKMRMVLGVIVPG
                     RGCAIPNRPGIFVRVAYYAKWIHKIILTYKVPQS"
     sig_peptide     77..169
                     /gene="HGF"
                     /gene_synonym="DFNB39; F-TCF; HGFB; HPTA; SF"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     170..1558
                     /gene="HGF"
                     /gene_synonym="DFNB39; F-TCF; HGFB; HPTA; SF"
                     /product="Hepatocyte growth factor alpha chain.
                     /id=PRO_0000028091"
                     /note="propagated from UniProtKB/Swiss-Prot (P14210.2)"
     misc_feature    170..172
                     /gene="HGF"
                     /gene_synonym="DFNB39; F-TCF; HGFB; HPTA; SF"
                     /note="Pyrrolidone carboxylic acid.
                     /evidence=ECO:0000269|PubMed:1826837; propagated from
                     UniProtKB/Swiss-Prot (P14210.2);
                     pyrrolidone-carboxylic-acid site"
     misc_feature    956..958
                     /gene="HGF"
                     /gene_synonym="DFNB39; F-TCF; HGFB; HPTA; SF"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /id=CAR_000021; propagated from UniProtKB/Swiss-Prot
                     (P14210.2); glycosylation site"
     misc_feature    1280..1282
                     /gene="HGF"
                     /gene_synonym="DFNB39; F-TCF; HGFB; HPTA; SF"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /id=CAR_000022; propagated from UniProtKB/Swiss-Prot
                     (P14210.2); glycosylation site"
     misc_feature    1502..1504
                     /gene="HGF"
                     /gene_synonym="DFNB39; F-TCF; HGFB; HPTA; SF"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:1482348. /id=CAR_000023;
                     propagated from UniProtKB/Swiss-Prot (P14210.2);
                     glycosylation site"
     mat_peptide     1559..2260
                     /gene="HGF"
                     /gene_synonym="DFNB39; F-TCF; HGFB; HPTA; SF"
                     /product="Hepatocyte growth factor beta chain.
                     /id=PRO_0000028092"
                     /note="propagated from UniProtKB/Swiss-Prot (P14210.2)"
     misc_feature    1772..1774
                     /gene="HGF"
                     /gene_synonym="DFNB39; F-TCF; HGFB; HPTA; SF"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /id=CAR_000024; propagated from UniProtKB/Swiss-Prot
                     (P14210.2); glycosylation site"
     misc_feature    2033..2035
                     /gene="HGF"
                     /gene_synonym="DFNB39; F-TCF; HGFB; HPTA; SF"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /id=CAR_000025; propagated from UniProtKB/Swiss-Prot
                     (P14210.2); glycosylation site"
     regulatory      5815..5820
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HGF"
                     /gene_synonym="DFNB39; F-TCF; HGFB; HPTA; SF"
                     /note="hexamer: AATAAA"
     polyA_site      5834
                     /gene="HGF"
                     /gene_synonym="DFNB39; F-TCF; HGFB; HPTA; SF"
                     /note="major polyA site"
ORIGIN
        1 aggcactgac tccgaacagg attctttcac ccaggcatct cctccagagg gatccgccag
       61 cccgtccagc agcaccatgt gggtgaccaa actcctgcca gccctgctgc tgcagcatgt
      121 cctcctgcat ctcctcctgc tccccatcgc catcccctat gcagagggac aaaggaaaag
      181 aagaaataca attcatgaat tcaaaaaatc agcaaagact accctaatca aaatagatcc
      241 agcactgaag ataaaaacca aaaaagtgaa tactgcagac caatgtgcta atagatgtac
      301 taggaataaa ggacttccat tcacttgcaa ggcttttgtt tttgataaag caagaaaaca
      361 atgcctctgg ttccccttca atagcatgtc aagtggagtg aaaaaagaat ttggccatga
      421 atttgacctc tatgaaaaca aagactacat tagaaactgc atcattggta aaggacgcag
      481 ctacaaggga acagtatcta tcactaagag tggcatcaaa tgtcagccct ggagttccat
      541 gataccacac gaacacagct ttttgccttc gagctatcgg ggtaaagacc tacaggaaaa
      601 ctactgtcga aatcctcgag gggaagaagg gggaccctgg tgtttcacaa gcaatccaga
      661 ggtacgctac gaagtctgtg acattcctca gtgttcagaa gttgaatgca tgacctgcaa
      721 tggggagagt tatcgaggtc tcatggatca tacagaatca ggcaagattt gtcagcgctg
      781 ggatcatcag acaccacacc ggcacaaatt cttgcctgaa agatatcccg acaagggctt
      841 tgatgataat tattgccgca atcccgatgg ccagccgagg ccatggtgct atactcttga
      901 ccctcacacc cgctgggagt actgtgcaat taaaacatgc gctgacaata ctatgaatga
      961 cactgatgtt cctttggaaa caactgaatg catccaaggt caaggagaag gctacagggg
     1021 cactgtcaat accatttgga atggaattcc atgtcagcgt tgggattctc agtatcctca
     1081 cgagcatgac atgactcctg aaaatttcaa gtgcaaggac ctacgagaaa attactgccg
     1141 aaatccagat gggtctgaat caccctggtg ttttaccact gatccaaaca tccgagttgg
     1201 ctactgctcc caaattccaa actgtgatat gtcacatgga caagattgtt atcgtgggaa
     1261 tggcaaaaat tatatgggca acttatccca aacaagatct ggactaacat gttcaatgtg
     1321 ggacaagaac atggaagact tacatcgtca tatcttctgg gaaccagatg caagtaagct
     1381 gaatgagaat tactgccgaa atccagatga tgatgctcat ggaccctggt gctacacggg
     1441 aaatccactc attccttggg attattgccc tatttctcgt tgtgaaggtg ataccacacc
     1501 tacaatagtc aatttagacc atcccgtaat atcttgtgcc aaaacgaaac aattgcgagt
     1561 tgtaaatggg attccaacac gaacaaacat aggatggatg gttagtttga gatacagaaa
     1621 taaacatatc tgcggaggat cattgataaa ggagagttgg gttcttactg cacgacagtg
     1681 tttcccttct cgagacttga aagattatga agcttggctt ggaattcatg atgtccacgg
     1741 aagaggagat gagaaatgca aacaggttct caatgtttcc cagctggtat atggccctga
     1801 aggatcagat ctggttttaa tgaagcttgc caggcctgct gtcctggatg attttgttag
     1861 tacgattgat ttacctaatt atggatgcac aattcctgaa aagaccagtt gcagtgttta
     1921 tggctggggc tacactggat tgatcaacta tgatggccta ttacgagtgg cacatctcta
     1981 tataatggga aatgagaaat gcagccagca tcatcgaggg aaggtgactc tgaatgagtc
     2041 tgaaatatgt gctggggctg aaaagattgg atcaggacca tgtgaggggg attatggtgg
     2101 cccacttgtt tgtgagcaac ataaaatgag aatggttctt ggtgtcattg ttcctggtcg
     2161 tggatgtgcc attccaaatc gtcctggtat ttttgtccga gtagcatatt atgcaaaatg
     2221 gatacacaaa attattttaa catataaggt accacagtca tagctgaagt aagtgtgtct
     2281 gaagcaccca ccaatacaac tgtcttttac atgaagattt cagagaatgt ggaatttaaa
     2341 atgtcactta caacaatcct aagacaacta ctggagagtc atgtttgttg aaattctcat
     2401 taatgtttat gggtgttttc tgttgttttg tttgtcagtg ttattttgtc aatgttgaag
     2461 tgaattaagg tacatgcaag tgtaataaca tatctcctga agatacttga atggattaaa
     2521 aaaacacaca ggtatatttg ctggatgata aagatttcat gggaaaaaaa atcaattaat
     2581 ctgtctaagc tgctttctga tgttggtttc ttaataatga gtaaaccaca aattaaatgt
     2641 tattttaacc tcaccaaaac aatttatacc ttgtgtccct aaattgtagc cctatattaa
     2701 attatattac atttcatatg ctatatgtta tagttcattc atttctcttc accatgtatc
     2761 ctgcaatact ggtacacgaa cacacttttt acaaaaccac atacccatgt acacatgcct
     2821 aggtacacat gtgcatgcac tacagtttaa attatggtgt acctaatgta acccctaaat
     2881 attttagaag tatgtaccta tagttttacc tcaaaaaaac cagaaatctc taaagaccag
     2941 tagaaatatt aaaaaatgat gcaagatcaa aatgattagc taattctcca tacataatct
     3001 gcagatgatc ttctttggtt ggcatttcag gtgtggccat cacccagagt taaataacac
     3061 ctaatctagg tgtttacatg tattcattat cctagttatt tcatgtagtt tctaattctt
     3121 aaaggaaaga gggtaatagt tctatttgtg taatttgttt cctccaaact taaggccact
     3181 tatttacaca agatatttgt agatctattt tcctaaagca tttcttaagt gctcagatca
     3241 gtatctaatt gaagaagttt aaaagtgttt tggtcattaa aaatgtactt aaataggtta
     3301 aatctaagcc ttgctgctgt gattggcttc tagctcactg cctttaaatt ttaaaaaatt
     3361 taagaggaaa atttccaagt ctccaaagtt ttataaatac ccttcatcaa gtcatgcatt
     3421 aaagtatata ttggagaaaa aaataaaaat acttttctca acctggaaga ttttagccta
     3481 ataaagcttt tttgaagtaa aagacaactt gtaaaaggaa agaaactagt ttgtctcaac
     3541 tctgtattca tttatttttt ttttgaagta gagtggaatc tgttgaatca gatattttat
     3601 caagatatgt ttattttttc ttatttcatt ttacaaagtt cactcctaat gccatatgta
     3661 acagacattt aaattttgtg ttctgtataa cagccaaatt atcatattta tcattgtatt
     3721 tgtcatgctt agctaaagat catgtatttg ttgagaaata gaataacaaa aagtaatagg
     3781 ataggctttg aatttttgca gaaatcttcc tgtacaaaac acctttaaaa ataatttttt
     3841 gaatggtgtg aatccagtag tcccatttct ctgacttagt tttcttgagt gatttttatc
     3901 aaggccaagt ccccaaacaa ttccctacca gctctttaga gtactgttca atctggacta
     3961 aaatggtttt aagtttatgg agagcttagt ccacagaata tagggcggcg agtccagaaa
     4021 tgcttataca attttttttt cataataaga tatgtgctgg catcaagaaa cttaaagtgg
     4081 aagcaaaaag acatccaact agttgctggt ctctatcatc ttatctgatg gtatttctat
     4141 tttccttata taatacacca ttttagtaag aactcctaga aatttcaaga gcatattgcc
     4201 aaaatataaa gtatatttca tagtttcttc tggctgaacc agtgaaattt tattattgca
     4261 tattaatgat atttgtaaaa cttttataaa aattgtcata attttaaata ctcacatttt
     4321 aaaaatactt ctttaatgac tcttcctcta aatttcctgg aaatacagat aaagattagc
     4381 tagatacaag atacagctaa gtatttagac attttgaggc tagtattttt cattttatta
     4441 aaggctaaaa acaataccac caataaatca tcaaacaaac cgtacaaagt aattctctct
     4501 ttgggaggct cctttcgtga tagagggaca tgggtggaat tgacaatgaa acttagatga
     4561 acaaggtcca tgttatttta ggtggtagaa cagggtagag tcatgtcatt atttgctggt
     4621 ggaagacact atttaccagg tgttctttgc tgaataaatc attaaacatt tttaaaaatc
     4681 caacaatcca ctttattttg tgtcattgac aaaaggatct tttaaatcag aaggtttcaa
     4741 tgcaattttt ggtttggctg tttgaataat ggttatgtac tgttataatt gtagacattt
     4801 tctcacgtct accaggaatt gaagtgtaaa actaaaatat ttttcataat gcctctgccg
     4861 tgcagaagga atgataatcc ttttgtatac ttctttaatt ttattgtaaa atgtgtaatg
     4921 acttttacct atatgctgtg ggcaggtcct cagtaaaatc tattgagtca atttctagta
     4981 ttaacaggct tttgcttgct atctaagtgt ttcaaattat gggaagtgtg agacactgga
     5041 aggcaagaaa attaacaata atggcatgtg atagcaaaat tgtatttcac ttattcctgt
     5101 gaatatttct tgttggtacc aatggtactg tacaaagtga atgttatagc cacaacattc
     5161 tcttgaaaag aacactgtca agaagtggga aattgctgtc aggcatttca ttgttgtttt
     5221 taaacttttt taaaagaaat actggttttg caatatagag atcatgtggt aaagaatttt
     5281 aataagatct tatactaaaa agccttaaat caatttattg agattcaaaa aatactatta
     5341 taattaatta catcccatac atataggcaa actcatttaa aaaataaaac taattttggt
     5401 aaaagtacat ggcctttgtt tttaaaatac ataattttaa aataaatcac ttgtcatgat
     5461 aaagtccaaa aagaagttat cattcaacat tcaactaagg ttggagctaa gaatttacta
     5521 atacaaaaaa agttaaaatt ttttggacca tatatatctt gacagtgtaa cttttaagta
     5581 ggttcatttc catttgcaca gaaagtttct gtctttagga aactgaaaat gaaatactgt
     5641 ggatgctatg actgtttgtc ttgtatgtaa ataggaaatt aataagctgc ctattgagtg
     5701 gtatagctgt atgcttaccc aaaaaaggga acactgtggt tatgacttgt attataaact
     5761 ttctgtagtt aataaagttg ttatttttat aaccatgatt atattattat tattaataaa
     5821 atattttatc aaaa
//
LOCUS       NM_000602               3156 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens serpin family E member 1 (SERPINE1), transcript variant
            2, mRNA.
ACCESSION   NM_000602
VERSION     NM_000602.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3156)
  AUTHORS   Donmez HG and Beksac MS.
  TITLE     Association of single nucleotide polymorphisms (4G/5G) of
            plasminogen activator inhibitor-1 and the risk factors for
            placenta-related obstetric complications
  JOURNAL   Blood Coagul Fibrinolysis 34 (6), 396-402 (2023)
   PUBMED   37577872
  REMARK    GeneRIF: Association of single nucleotide polymorphisms (4G/5G) of
            plasminogen activator inhibitor-1 and the risk factors for
            placenta-related obstetric complications.
REFERENCE   2  (bases 1 to 3156)
  AUTHORS   Jiang S, Wang Y, Chen L, Mu H, Meaney C, Fan Y, Pillay J, Wang H,
            Zhang J, Pan S and Gao C.
  TITLE     PAI-1 genetic polymorphisms influence septic patients' outcomes by
            regulating neutrophil activity
  JOURNAL   Chin Med J (Engl) 136 (16), 1959-1966 (2023)
   PUBMED   37439338
  REMARK    GeneRIF: PAI-1 genetic polymorphisms influence septic patients'
            outcomes by regulating neutrophil activity.
REFERENCE   3  (bases 1 to 3156)
  AUTHORS   Rana T, Jiang C, Banerjee S, Yi N, Zmijewski JW, Liu G and Liu RM.
  TITLE     PAI-1 Regulation of p53 Expression and Senescence in Type II
            Alveolar Epithelial Cells
  JOURNAL   Cells 12 (15), 2008 (2023)
   PUBMED   37566086
  REMARK    GeneRIF: PAI-1 Regulation of p53 Expression and Senescence in Type
            II Alveolar Epithelial Cells. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3156)
  AUTHORS   Wei WF, Zhou HL, Chen PY, Huang XL, Huang L, Liang LJ, Guo CH, Zhou
            CF, Yu L, Fan LS and Wang W.
  TITLE     Cancer-associated fibroblast-derived PAI-1 promotes lymphatic
            metastasis via the induction of EndoMT in lymphatic endothelial
            cells
  JOURNAL   J Exp Clin Cancer Res 42 (1), 160 (2023)
   PUBMED   37415190
  REMARK    GeneRIF: Cancer-associated fibroblast-derived PAI-1 promotes
            lymphatic metastasis via the induction of EndoMT in lymphatic
            endothelial cells. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3156)
  AUTHORS   Ruikar K, Khode V, Shetty SS, Sarathkumar E, Patil P, Patil S,
            Bargale A, Sadashiv R and Shetty P.
  TITLE     Association of pro-fibrinolytic receptor AnnexinA2 with tissue
            plasminogen activator/Inhibitor-1 in pre-eclampsia
  JOURNAL   Afr Health Sci 23 (1), 309-319 (2023)
   PUBMED   37545924
  REMARK    GeneRIF: Association of pro-fibrinolytic receptor AnnexinA2 with
            tissue plasminogen activator/Inhibitor-1 in pre-eclampsia.
REFERENCE   6  (bases 1 to 3156)
  AUTHORS   Heiman,M., Gupta,S., Lewandowska,M. and Shapiro,A.D.
  TITLE     Complete Plasminogen Activator Inhibitor 1 Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   28771291
REFERENCE   7  (bases 1 to 3156)
  AUTHORS   Fay WP, Shapiro AD, Shih JL, Schleef RR and Ginsburg D.
  TITLE     Brief report: complete deficiency of plasminogen-activator inhibitor
            type 1 due to a frame-shift mutation
  JOURNAL   N Engl J Med 327 (24), 1729-1733 (1992)
   PUBMED   1435917
REFERENCE   8  (bases 1 to 3156)
  AUTHORS   Koh SC, Wong PC, Yuen R, Chua SE, Ng BL and Ratnam SS.
  TITLE     Concentration of plasminogen activators and inhibitor in the human
            endometrium at different phases of the menstrual cycle
  JOURNAL   J Reprod Fertil 96 (2), 407-413 (1992)
   PUBMED   1339823
REFERENCE   9  (bases 1 to 3156)
  AUTHORS   Hagege J, Peraldi MN, Rondeau E, Adida C, Delarue F, Medcalf R,
            Schleuning WD and Sraer JD.
  TITLE     Plasminogen activator inhibitor-1 deposition in the extracellular
            matrix of cultured human mesangial cells
  JOURNAL   Am J Pathol 141 (1), 117-128 (1992)
   PUBMED   1632457
REFERENCE   10  (bases 1 to 3156)
  AUTHORS   Ehrlich HJ, Gebbink RK, Keijer J, Linders M, Preissner KT and
            Pannekoek H.
  TITLE     Alteration of serpin specificity by a protein cofactor. Vitronectin
            endows plasminogen activator inhibitor 1 with thrombin inhibitory
            properties
  JOURNAL   J Biol Chem 265 (22), 13029-13035 (1990)
   PUBMED   1695900
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M16006.1, SRR11853566.25644.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in immune response or antiviral
            activity
            MANE Ensembl match          :: ENST00000223095.5/ ENSP00000223095.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN309001.1, BC010860.1,
            M16006.1 and AI752990.1.
            On Aug 31, 2019 this sequence version replaced NM_000602.4.
            Summary: This gene encodes a member of the serine proteinase
            inhibitor (serpin) superfamily. This member is the principal
            inhibitor of tissue plasminogen activator (tPA) and urokinase
            (uPA), and hence is an inhibitor of fibrinolysis. The protein also
            functions as a component of innate antiviral immunity. Defects in
            this gene are the cause of plasminogen activator inhibitor-1
            deficiency (PAI-1 deficiency), and high concentrations of the gene
            product are associated with thrombophilia. [provided by RefSeq, Aug
            2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3156
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..3156
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="serpin family E member 1"
                     /db_xref="GeneID:5054"
                     /db_xref="HGNC:HGNC:8583"
                     /db_xref="MIM:173360"
     CDS             143..1351
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; serine (or cysteine) proteinase inhibitor, clade E
                     (nexin, plasminogen activator inhibitor type 1), member 1;
                     endothelial plasminogen activator inhibitor; serpin E1;
                     serpin peptidase inhibitor, clade E (nexin, plasminogen
                     activator inhibitor type 1), member 1"
                     /codon_start=1
                     /product="plasminogen activator inhibitor 1 isoform 2
                     precursor"
                     /protein_id="NP_000593.1"
                     /db_xref="CCDS:CCDS5711.1"
                     /db_xref="GeneID:5054"
                     /db_xref="HGNC:HGNC:8583"
                     /db_xref="MIM:173360"
                     /translation="MQMSPALTCLVLGLALVFGEGSAVHHPPSYVAHLASDFGVRVFQQ
                     VAQASKDRNVVFSPYGVASVLAMLQLTTGGETQQQIQAAMGFKIDDKGMAPALRHLYKE
                     LMGPWNKDEISTTDAIFVQRDLKLVQGFMPHFFRLFRSTVKQVDFSEVERARFIINDWV
                     KTHTKGMISNLLGKGAVDQLTRLVLVNALYFNGQWKTPFPDSSTHRRLFHKSDGSTVSV
                     PMMAQTNKFNYTEFTTPDGHYYDILELPYHGDTLSMFIAAPYEKEVPLSALTNILSAQL
                     ISHWKGNMTRLPRLLVLPKFSLETEVDLRKPLENLGMTDMFRQFQADFTSLSDQEPLHV
                     AQALQKVKIEVNESGTVASSSTAVIVSARMAPEEIIMDRPFLFVVRHNPTGTVLFMGQV
                     MEP"
     sig_peptide     143..211
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     212..1348
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /product="Plasminogen activator inhibitor 1.
                     /id=PRO_0000032499"
                     /note="propagated from UniProtKB/Swiss-Prot (P05121.1)"
     misc_feature    836..838
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P05121.1); glycosylation site"
     misc_feature    1004..1006
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P05121.1); glycosylation site"
     misc_feature    1196..1198
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P05121.1); glycosylation site"
     misc_feature    1247..1252
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="Reactive bond; propagated from UniProtKB/Swiss-Prot
                     (P05121.1); other site"
     regulatory      2192..2197
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="hexamer: AATAAT"
     polyA_site      2212
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
     regulatory      3136..3141
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="hexamer: AATAAA"
     polyA_site      3156
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="major polyA site"
ORIGIN
        1 acagctgtgt ttggctgcag ggccaagagc gctgtcaaga agacccacac gcccccctcc
       61 agcagctgaa ttcctgcagc tcagcagccg ccgccagagc aggacgaacc gccaatcgca
      121 aggcacctct gagaacttca ggatgcagat gtctccagcc ctcacctgcc tagtcctggg
      181 cctggccctt gtctttggtg aagggtctgc tgtgcaccat cccccatcct acgtggccca
      241 cctggcctca gacttcgggg tgagggtgtt tcagcaggtg gcgcaggcct ccaaggaccg
      301 caacgtggtt ttctcaccct atggggtggc ctcggtgttg gccatgctcc agctgacaac
      361 aggaggagaa acccagcagc agattcaagc agctatggga ttcaagattg atgacaaggg
      421 catggccccc gccctccggc atctgtacaa ggagctcatg gggccatgga acaaggatga
      481 gatcagcacc acagacgcga tcttcgtcca gcgggatctg aagctggtcc agggcttcat
      541 gccccacttc ttcaggctgt tccggagcac ggtcaagcaa gtggactttt cagaggtgga
      601 gagagccaga ttcatcatca atgactgggt gaagacacac acaaaaggta tgatcagcaa
      661 cttgcttggg aaaggagccg tggaccagct gacacggctg gtgctggtga atgccctcta
      721 cttcaacggc cagtggaaga ctcccttccc cgactccagc acccaccgcc gcctcttcca
      781 caaatcagac ggcagcactg tctctgtgcc catgatggct cagaccaaca agttcaacta
      841 tactgagttc accacgcccg atggccatta ctacgacatc ctggaactgc cctaccacgg
      901 ggacaccctc agcatgttca ttgctgcccc ttatgaaaaa gaggtgcctc tctctgccct
      961 caccaacatt ctgagtgccc agctcatcag ccactggaaa ggcaacatga ccaggctgcc
     1021 ccgcctcctg gttctgccca agttctccct ggagactgaa gtcgacctca ggaagcccct
     1081 agagaacctg ggaatgaccg acatgttcag acagtttcag gctgacttca cgagtctttc
     1141 agaccaagag cctctccacg tcgcgcaggc gctgcagaaa gtgaagatcg aggtgaacga
     1201 gagtggcacg gtggcctcct catccacagc tgtcatagtc tcagcccgca tggcccccga
     1261 ggagatcatc atggacagac ccttcctctt tgtggtccgg cacaacccca caggaacagt
     1321 ccttttcatg ggccaagtga tggaaccctg accctgggga aagacgcctt catctgggac
     1381 aaaactggag atgcatcggg aaagaagaaa ctccgaagaa aagaatttta gtgttaatga
     1441 ctctttctga aggaagagaa gacatttgcc ttttgttaaa agatggtaaa ccagatctgt
     1501 ctccaagacc ttggcctctc cttggaggac ctttaggtca aactccctag tctccacctg
     1561 agaccctggg agagaagttt gaagcacaac tcccttaagg tctccaaacc agacggtgac
     1621 gcctgcggga ccatctgggg cacctgcttc cacccgtctc tctgcccact cgggtctgca
     1681 gacctggttc ccactgaggc cctttgcagg atggaactac ggggcttaca ggagcttttg
     1741 tgtgcctggt agaaactatt tctgttccag tcacattgcc atcactcttg tactgcctgc
     1801 caccgcggag gaggctggtg acaggccaaa ggccagtgga agaaacaccc tttcatctca
     1861 gagtccactg tggcactggc cacccctccc cagtacaggg gtgctgcagg tggcagagtg
     1921 aatgtccccc atcatgtggc ccaactctcc tggcctggcc atctccctcc ccagaaacag
     1981 tgtgcatggg ttattttgga gtgtaggtga cttgtttact cattgaagca gatttctgct
     2041 tccttttatt tttataggaa tagaggaaga aatgtcagat gcgtgcccag ctcttcaccc
     2101 cccaatctct tggtggggag gggtgtacct aaatatttat catatccttg cccttgagtg
     2161 cttgttagag agaaagagaa ctactaagga aaataatatt atttaaactc gctcctagtg
     2221 tttctttgtg gtctgtgtca ccgtatctca ggaagtccag ccacttgact ggcacacacc
     2281 cctccggaca tccagcgtga cggagcccac actgccacct tgtggccgcc tgagaccctc
     2341 gcgccccccg cgcccctctt tttccccttg atggaaattg accatacaat ttcatcctcc
     2401 ttcaggggat caaaaggacg gagtgggggg acagagactc agatgaggac agagtggttt
     2461 ccaatgtgtt caatagattt aggagcagaa atgcaagggg ctgcatgacc taccaggaca
     2521 gaactttccc caattacagg gtgactcaca gccgcattgg tgactcactt caatgtgtca
     2581 tttccggctg ctgtgtgtga gcagtggaca cgtgaggggg gggtgggtga gagagacagg
     2641 cagctcggat tcaactacct tagataatat ttctgaaaac ctaccagcca gagggtaggg
     2701 cacaaagatg gatgtaatgc actttgggag gccaaggcgg gaggattgct tgagcccagg
     2761 agttcaagac cagcctgggc aacataccaa gacccccgtc tctttaaaaa tatatatatt
     2821 ttaaatatac ttaaatatat atttctaata tctttaaata tatatatata ttttaaagac
     2881 caatttatgg gagaattgca cacagatgtg aaatgaatgt aatctaatag aagcctaatc
     2941 agcccaccat gttctccact gaaaaatcct ctttctttgg ggtttttctt tctttctttt
     3001 ttgattttgc actggacggt gacgtcagcc atgtacagga tccacagggg tggtgtcaaa
     3061 tgctattgaa attgtgttga attgtatgct ttttcacttt tgataaataa acatgtaaaa
     3121 atgtttcaaa aaaataataa aataaataaa tacgaa
//
LOCUS       NM_000603               4366 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens nitric oxide synthase 3 (NOS3), transcript variant 1,
            mRNA.
ACCESSION   NM_000603
VERSION     NM_000603.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4366)
  AUTHORS   Shi Y, Fan X, Zhang K and Ma Y.
  TITLE     Association of the endothelial nitric oxide synthase (eNOS) 4a/b
            polymorphism with the risk of incident diabetic retinopathy in
            patients with type 2 diabetes mellitus: a systematic review and
            updated meta-analysis
  JOURNAL   Ann Med 55 (1), 2226908 (2023)
   PUBMED   37353997
  REMARK    GeneRIF: Association of the endothelial nitric oxide synthase (eNOS)
            4a/b polymorphism with the risk of incident diabetic retinopathy in
            patients with type 2 diabetes mellitus: a systematic review and
            updated meta-analysis. Erratum:[Ann Med. 2023 Dec;55(1):2245611.
            PMID: 37672385]
REFERENCE   2  (bases 1 to 4366)
  AUTHORS   Fondjo LA, Awuah EO, Sakyi SA, Senu E and Detoh E.
  TITLE     Association between endothelial nitric oxide synthase (eNOS) gene
            variants and nitric oxide production in preeclampsia: a case-control
            study in Ghana
  JOURNAL   Sci Rep 13 (1), 14740 (2023)
   PUBMED   37679510
  REMARK    GeneRIF: Association between endothelial nitric oxide synthase
            (eNOS) gene variants and nitric oxide production in preeclampsia: a
            case-control study in Ghana. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4366)
  AUTHORS   He T, d'Uscio LV and Katusic ZS.
  TITLE     BACE2 deficiency impairs expression and function of endothelial
            nitric oxide synthase in brain endothelial cells
  JOURNAL   J Neurochem 166 (6), 928-942 (2023)
   PUBMED   37547981
  REMARK    GeneRIF: BACE2 deficiency impairs expression and function of
            endothelial nitric oxide synthase in brain endothelial cells.
REFERENCE   4  (bases 1 to 4366)
  AUTHORS   Karimian M, Yaqubi S and Karimian Z.
  TITLE     The eNOS-G894T genetic polymorphism and risk of preeclampsia: A
            case-control study, an updated meta-analysis, and a bioinformatic
            assay
  JOURNAL   Cytokine 169, 156283 (2023)
   PUBMED   37356259
  REMARK    GeneRIF: The eNOS-G894T genetic polymorphism and risk of
            preeclampsia: A case-control study, an updated meta-analysis, and a
            bioinformatic assay.
REFERENCE   5  (bases 1 to 4366)
  AUTHORS   Marisi G, Azzali I, Passardi A, Rebuzzi F, Bartolini G, Urbini M,
            Canale M, Molinari C, Matteucci L, Sullo FG, Debonis SA, Gallio C,
            Gallo G, Frassineti GL and Ulivi P.
  TITLE     Prospective validation of VEGF and eNOS polymorphisms as predictors
            of first-line bevacizumab efficacy in patients with metastatic
            colorectal cancer
  JOURNAL   Sci Rep 13 (1), 12921 (2023)
   PUBMED   37558720
  REMARK    GeneRIF: Prospective validation of VEGF and eNOS polymorphisms as
            predictors of first-line bevacizumab efficacy in patients with
            metastatic colorectal cancer. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4366)
  AUTHORS   Huh JW, Ha HS, Kim DS and Kim HS.
  TITLE     Placenta-restricted expression of LTR-derived NOS3
  JOURNAL   Placenta 29 (7), 602-608 (2008)
   PUBMED   18474398
  REMARK    GeneRIF: Integration event of an LTR10A element in the upstream
            region of NOS3 led to the generation of a placenta-specific
            alternative transcript.
REFERENCE   7  (bases 1 to 4366)
  AUTHORS   Janssens,S.P., Simouchi,A., Quertermous,T., Bloch,D.B. and
            Bloch,K.D.
  TITLE     Cloning and expression of a cDNA encoding human endothelium-derived
            relating factor/nitric oxide synthase
  JOURNAL   J Biol Chem 267 (31), 22694 (1992)
   PUBMED   1385404
  REMARK    Correction to:[J Biol Chem. 1992 Jul 25;267(21):14519-22. PMID:
            1378832]
REFERENCE   8  (bases 1 to 4366)
  AUTHORS   Marsden PA, Schappert KT, Chen HS, Flowers M, Sundell CL, Wilcox JN,
            Lamas S and Michel T.
  TITLE     Molecular cloning and characterization of human endothelial nitric
            oxide synthase
  JOURNAL   FEBS Lett 307 (3), 287-293 (1992)
   PUBMED   1379542
REFERENCE   9  (bases 1 to 4366)
  AUTHORS   Janssens SP, Shimouchi A, Quertermous T, Bloch DB and Bloch KD.
  TITLE     Cloning and expression of a cDNA encoding human endothelium-derived
            relaxing factor/nitric oxide synthase
  JOURNAL   J Biol Chem 267 (21), 14519-14522 (1992)
   PUBMED   1378832
  REMARK    Erratum:[J Biol Chem. 1992 Nov 5;267(31):22694. PMID: 1385404]
REFERENCE   10  (bases 1 to 4366)
  AUTHORS   Ros M, Northup JK and Malbon CC.
  TITLE     Adipocyte G-proteins and adenylate cyclase. Effects of adrenalectomy
  JOURNAL   Biochem J 257 (3), 737-744 (1989)
   PUBMED   2539094
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC063294.1, SRR11853563.31246.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2158188,
            SAMEA2162568 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000297494.8/ ENSP00000297494.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010973.7, DA859819.1,
            BC063294.1 and AI082109.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000603.4.
            Summary: Nitric oxide is a reactive free radical which acts as a
            biologic mediator in several processes, including neurotransmission
            and antimicrobial and antitumoral activities. Nitric oxide is
            synthesized from L-arginine by nitric oxide synthases. Variations
            in this gene are associated with susceptibility to coronary spasm.
            Alternative splicing and the use of alternative promoters results
            in multiple transcript variants. [provided by RefSeq, Oct 2016].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1). The 5' end of this
            transcript contains long terminal repeat (LTR) sequence, initiates
            from an LTR promoter and results in placenta-specific expression.
            (PMID: 18474398).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4366
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..4366
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="nitric oxide synthase 3"
                     /db_xref="GeneID:4846"
                     /db_xref="HGNC:HGNC:7876"
                     /db_xref="MIM:163729"
     repeat_region   40..160
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="long terminal repeat (LTR)"
                     /rpt_family="human endogenous retrovirus 1 (ERV1)"
     misc_feature    114..116
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="upstream in-frame stop codon"
     misc_feature    314
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="alternative transcription initiation site"
     CDS             336..3947
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /EC_number="1.14.13.39"
                     /note="isoform 1 is encoded by transcript variant 1; cNOS;
                     EC-NOS; NOSIII; NOS type III; endothelial NOS; constitutive
                     NOS; nitric oxide synthase 3 (endothelial cell)"
                     /codon_start=1
                     /product="nitric oxide synthase 3 isoform 1"
                     /protein_id="NP_000594.2"
                     /db_xref="CCDS:CCDS5912.1"
                     /db_xref="GeneID:4846"
                     /db_xref="HGNC:HGNC:7876"
                     /db_xref="MIM:163729"
                     /translation="MGNLKSVAQEPGPPCGLGLGLGLGLCGKQGPATPAPEPSRAPASL
                     LPPAPEHSPPSSPLTQPPEGPKFPRVKNWEVGSITYDTLSAQAQQDGPCTPRRCLGSLV
                     FPRKLQGRPSPGPPAPEQLLSQARDFINQYYSSIKRSGSQAHEQRLQEVEAEVAATGTY
                     QLRESELVFGAKQAWRNAPRCVGRIQWGKLQVFDARDCRSAQEMFTYICNHIKYATNRG
                     NLRSAITVFPQRCPGRGDFRIWNSQLVRYAGYRQQDGSVRGDPANVEITELCIQHGWTP
                     GNGRFDVLPLLLQAPDDPPELFLLPPELVLEVPLEHPTLEWFAALGLRWYALPAVSNML
                     LEIGGLEFPAAPFSGWYMSTEIGTRNLCDPHRYNILEDVAVCMDLDTRTTSSLWKDKAA
                     VEINVAVLHSYQLAKVTIVDHHAATASFMKHLENEQKARGGCPADWAWIVPPISGSLTP
                     VFHQEMVNYFLSPAFRYQPDPWKGSAAKGTGITRKKTFKEVANAVKISASLMGTVMAKR
                     VKATILYGSETGRAQSYAQQLGRLFRKAFDPRVLCMDEYDVVSLEHETLVLVVTSTFGN
                     GDPPENGESFAAALMEMSGPYNSSPRPEQHKSYKIRFNSISCSDPLVSSWRRKRKESSN
                     TDSAGALGTLRFCVFGLGSRAYPHFCAFARAVDTRLEELGGERLLQLGQGDELCGQEEA
                     FRGWAQAAFQAACETFCVGEDAKAAARDIFSPKRSWKRQRYRLSAQAEGLQLLPGLIHV
                     HRRKMFQATIRSVENLQSSKSTRATILVRLDTGGQEGLQYQPGDHIGVCPPNRPGLVEA
                     LLSRVEDPPAPTEPVAVEQLEKGSPGGPPPGWVRDPRLPPCTLRQALTFFLDITSPPSP
                     QLLRLLSTLAEEPREQQELEALSQDPRRYEEWKWFRCPTLLEVLEQFPSVALPAPLLLT
                     QLPLLQPRYYSVSSAPSTHPGEIHLTVAVLAYRTQDGLGPLHYGVCSTWLSQLKPGDPV
                     PCFIRGAPSFRLPPDPSLPCILVGPGTGIAPFRGFWQERLHDIESKGLQPTPMTLVFGC
                     RCSQLDHLYRDEVQNAQQRGVFGRVLTAFSREPDNPKTYVQDILRTELAAEVHRVLCLE
                     RGHMFVCGDVTMATNVLQTVQRILATEGDMELDEAGDVIGVLRDQQRYHEDIFGLTLRT
                     QEVTSRIRTQSFSLQERQLRGAVPWAFDPPGSDTNSP"
     misc_feature    336..548
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="propagated from UniProtKB/Swiss-Prot (P29474.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    432..434
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P29474.4); phosphorylation site"
     misc_feature    627..1793
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="propagated from UniProtKB/Swiss-Prot (P29474.4);
                     Region: Interaction with NOSIP.
                     /evidence=ECO:0000269|PubMed:11149895"
     misc_feature    675..677
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="Phosphoserine, by CDK5.
                     /evidence=ECO:0000269|PubMed:20213743; propagated from
                     UniProtKB/Swiss-Prot (P29474.4); phosphorylation site"
     misc_feature    1806..1865
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="propagated from UniProtKB/Swiss-Prot (P29474.4);
                     Region: Calmodulin-binding. /evidence=ECO:0000255"
     misc_feature    1818..1820
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="Phosphothreonine, by AMPK.
                     /evidence=ECO:0000269|PubMed:16126727; propagated from
                     UniProtKB/Swiss-Prot (P29474.4); phosphorylation site"
     misc_feature    2178..2180
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70313; propagated from
                     UniProtKB/Swiss-Prot (P29474.4); phosphorylation site"
     misc_feature    2232..2234
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P29474.4); phosphorylation site"
     misc_feature    2247..2249
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P29474.4); phosphorylation site"
     misc_feature    2841..2843
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P29474.4); phosphorylation site"
     misc_feature    3858..3860
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P70313; propagated from
                     UniProtKB/Swiss-Prot (P29474.4); phosphorylation site"
     misc_feature    3864..3866
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="Phosphoserine, by AMPK.
                     /evidence=ECO:0000269|PubMed:16126727,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P29474.4); phosphorylation site"
     misc_feature    3870..3872
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70313; propagated from
                     UniProtKB/Swiss-Prot (P29474.4); phosphorylation site"
     regulatory      4344..4349
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="hexamer: ACTAAA"
     polyA_site      4366
                     /gene="NOS3"
                     /gene_synonym="ECNOS; eNOS"
                     /note="major polyA site"
ORIGIN
        1 agttcggagc aggtgataga agctaggagg gggttgttta ctgaaactag gggcaaggag
       61 acgaagagaa catgaaagtt aaactttaag atgaagaaca aagctgaaca tactgatgca
      121 ttggatcttt ggagaggatc tcagaactca ttgtacttaa tttacaggct aaaaccttag
      181 aagaggaatt tattatatcc tacacaagac tccagggaag cacatggcct tggactgaag
      241 gctggcatct ggaagctgtc agccaccagc accttctgca gcaggaaaag gccagggctc
      301 tgctggagca ggcagcagag tggacgcaca gtaacatggg caacttgaag agcgtggccc
      361 aggagcctgg gccaccctgc ggcctggggc tggggctggg ccttgggctg tgcggcaagc
      421 agggcccagc caccccggcc cctgagccca gccgggcccc agcatcccta ctcccaccag
      481 cgccagaaca cagccccccg agctccccgc taacccagcc cccagagggg cccaagttcc
      541 ctcgtgtgaa gaactgggag gtggggagca tcacctatga caccctcagc gcccaggcgc
      601 agcaggatgg gccctgcacc ccaagacgct gcctgggctc cctggtattt ccacggaaac
      661 tacagggccg gccctccccc ggccccccgg cccctgagca gctgctgagt caggcccggg
      721 acttcatcaa ccagtactac agctccatta agaggagcgg ctcccaggcc cacgaacagc
      781 ggcttcaaga ggtggaagcc gaggtggcag ccacaggcac ctaccagctt agggagagcg
      841 agctggtgtt cggggctaag caggcctggc gcaacgctcc ccgctgcgtg ggccggatcc
      901 agtgggggaa gctgcaggtg ttcgatgccc gggactgcag gtctgcacag gaaatgttca
      961 cctacatctg caaccacatc aagtatgcca ccaaccgggg caaccttcgc tcggccatca
     1021 cagtgttccc gcagcgctgc cctggccgag gagacttccg aatctggaac agccagctgg
     1081 tgcgctacgc gggctaccgg cagcaggatg gctctgtgcg gggggaccca gccaacgtgg
     1141 agatcaccga gctctgcatt cagcacggct ggaccccagg aaacggtcgc ttcgacgtgc
     1201 tgcccctgct gctgcaggcc ccagatgatc ccccagaact cttccttctg ccccccgagc
     1261 tggtccttga ggtgcccctg gagcacccca cgctggagtg gtttgcagcc ctgggcctgc
     1321 gctggtacgc cctcccggca gtgtccaaca tgctgctgga aattgggggc ctggagttcc
     1381 ccgcagcccc cttcagtggc tggtacatga gcactgagat cggcacgagg aacctgtgtg
     1441 accctcaccg ctacaacatc ctggaggatg tggctgtctg catggacctg gatacccgga
     1501 ccacctcgtc cctgtggaaa gacaaggcag cagtggaaat caacgtggcc gtgctgcaca
     1561 gttaccagct agccaaagtc accatcgtgg accaccacgc cgccacggcc tctttcatga
     1621 agcacctgga gaatgagcag aaggccaggg ggggctgccc tgcagactgg gcctggatcg
     1681 tgccccccat ctcgggcagc ctcactcctg ttttccatca ggagatggtc aactatttcc
     1741 tgtccccggc cttccgctac cagccagacc cctggaaggg gagtgccgcc aagggcaccg
     1801 gcatcaccag gaagaagacc tttaaagaag tggccaacgc cgtgaagatc tccgcctcgc
     1861 tcatgggcac ggtgatggcg aagcgagtga aggcgacaat cctgtatggc tccgagaccg
     1921 gccgggccca gagctacgca cagcagctgg ggagactctt ccggaaggct tttgatcccc
     1981 gggtcctgtg tatggatgag tatgacgtgg tgtccctcga acacgagacg ctggtgctgg
     2041 tggtaaccag cacatttggg aatggggatc ccccggagaa tggagagagc tttgcagctg
     2101 ccctgatgga gatgtccggc ccctacaaca gctcccctcg gccggaacag cacaagagtt
     2161 ataagatccg cttcaacagc atctcctgct cagacccact ggtgtcctct tggcggcgga
     2221 agaggaagga gtccagtaac acagacagtg caggggccct gggcaccctc aggttctgtg
     2281 tgttcgggct cggctcccgg gcataccccc acttctgcgc ctttgctcgt gccgtggaca
     2341 cacggctgga ggaactgggc ggggagcggc tgctgcagct gggccagggc gacgagctgt
     2401 gcggccagga ggaggccttc cgaggctggg cccaggctgc cttccaggcc gcctgtgaga
     2461 ccttctgtgt gggagaggat gccaaggccg ccgcccgaga catcttcagc cccaaacgga
     2521 gctggaagcg ccagaggtac cggctgagcg cccaggccga gggcctgcag ttgctgccag
     2581 gtctgatcca cgtgcacagg cggaagatgt tccaggctac aatccgctca gtggaaaacc
     2641 tgcaaagcag caagtccacg agggccacca tcctggtgcg cctggacacc ggaggccagg
     2701 aggggctgca gtaccagccg ggggaccaca taggtgtctg cccgcccaac cggcccggcc
     2761 ttgtggaggc gctgctgagc cgcgtggagg acccgccggc gcccactgag cccgtggcag
     2821 tagagcagct ggagaagggc agccctggtg gccctccccc cggctgggtg cgggaccccc
     2881 ggctgccccc gtgcacgctg cgccaggctc tcaccttctt cctggacatc acctccccac
     2941 ccagccctca gctcttgcgg ctgctcagca ccttggcaga agagcccagg gaacagcagg
     3001 agctggaggc cctcagccag gatccccgac gctacgagga gtggaagtgg ttccgctgcc
     3061 ccacgctgct ggaggtgctg gagcagttcc cgtcggtggc gctgcctgcc ccactgctcc
     3121 tcacccagct gcctctgctc cagccccggt actactcagt cagctcggca cccagcaccc
     3181 acccaggaga gatccacctc actgtagctg tgctggcata caggactcag gatgggctgg
     3241 gccccctgca ctatggagtc tgctccacgt ggctaagcca gctcaagccc ggagaccctg
     3301 tgccctgctt catccggggg gctccctcct tccggctgcc acccgatccc agcttgccct
     3361 gcatcctggt gggtccaggc actggcattg cccccttccg gggattctgg caggagcggc
     3421 tgcatgacat tgagagcaaa gggctgcagc ccactcccat gactttggtg ttcggctgcc
     3481 gatgctccca acttgaccat ctctaccgcg acgaggtgca gaacgcccag cagcgcgggg
     3541 tgtttggccg agtcctcacc gccttctccc gggaacctga caaccccaag acctacgtgc
     3601 aggacatcct gaggacggag ctggctgcgg aggtgcaccg cgtgctgtgc ctcgagcggg
     3661 gccacatgtt tgtctgcggc gatgttacca tggcaaccaa cgtcctgcag accgtgcagc
     3721 gcatcctggc gacggagggc gacatggagc tggacgaggc cggcgacgtc atcggcgtgc
     3781 tgcgggatca gcaacgctac cacgaagaca ttttcgggct cacgctgcgc acccaggagg
     3841 tgacaagccg catacgcacc cagagctttt ccttgcagga gcgtcagttg cggggcgcag
     3901 tgccctgggc gttcgaccct cccggctcag acaccaacag cccctgagag ccgcctggct
     3961 ttcccttcca gttccgggag agcggctgcc cgactcaggt ccgcccgacc aggatcagcc
     4021 ccgctcctcc cctcttgagg tggtgccttc tcacatctgt ccagaggctg caaggattca
     4081 gcattattcc tccaggaagg agcaaaacgc ctcttttccc tctctaggcc tgttgcctcg
     4141 ggcctgggtc cgccttaatc tggaaggccc ctcccagcag cggtacccca gggcctactg
     4201 ccacccgctt cctgtttctt agtcgaatgt tagattcctc ttgcctctct caggagtatc
     4261 ttacctgtaa agtctaatct ctaaatcaag tatttattat tgaagattta ccataaggga
     4321 ctgtgccaga tgttaggaga actactaaag tgcctacccc agctca
//
LOCUS       NM_000605               1144 bp    mRNA    linear   PRI 17-APR-2023
DEFINITION  Homo sapiens interferon alpha 2 (IFNA2), mRNA.
ACCESSION   NM_000605
VERSION     NM_000605.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1144)
  AUTHORS   Bodansky A, Vazquez SE, Chou J, Novak T, Al-Musa A, Young C, Newhams
            M, Kucukak S, Zambrano LD, Mitchell A, Wang CY, Moffitt K, Halasa
            NB, Loftis LL, Schwartz SP, Walker TC, Mack EH, Fitzgerald JC, Gertz
            SJ, Rowan CM, Irby K, Sanders RC Jr, Kong M, Schuster JE, Staat MA,
            Zinter MS, Cvijanovich NZ, Tarquinio KM, Coates BM, Flori HR, Dahmer
            MK, Crandall H, Cullimore ML, Levy ER, Chatani B, Nofziger R, Geha
            RS, DeRisi J, Campbell AP, Anderson M and Randolph AG.
  CONSRTM   Overcoming COVID-19 Network Study Group Investigators,
  TITLE     NFKB2 haploinsufficiency identified via screening for IFN-alpha2
            autoantibodies in children and adolescents hospitalized with
            SARS-CoV-2-related complications
  JOURNAL   J Allergy Clin Immunol 151 (4), 926-930 (2023)
   PUBMED   36509151
  REMARK    GeneRIF: NFKB2 haploinsufficiency identified via screening for
            IFN-alpha2 autoantibodies in children and adolescents hospitalized
            with SARS-CoV-2-related complications.
REFERENCE   2  (bases 1 to 1144)
  AUTHORS   Kokuzawa A, Nakamura J, Kamata Y and Sato K.
  TITLE     Potential role of type I interferon/IP-10 axis in the pathogenesis
            of anti-MDA5 antibody-positive dermatomyositis
  JOURNAL   Clin Exp Rheumatol 41 (2), 275-284 (2023)
   PUBMED   36622131
  REMARK    GeneRIF: Potential role of type I interferon/IP-10 axis in the
            pathogenesis of anti-MDA5 antibody-positive dermatomyositis.
REFERENCE   3  (bases 1 to 1144)
  AUTHORS   Hadjadj J, Yatim N, Barnabei L, Corneau A, Boussier J, Smith N, Pere
            H, Charbit B, Bondet V, Chenevier-Gobeaux C, Breillat P, Carlier N,
            Gauzit R, Morbieu C, Pene F, Marin N, Roche N, Szwebel TA, Merkling
            SH, Treluyer JM, Veyer D, Mouthon L, Blanc C, Tharaux PL, Rozenberg
            F, Fischer A, Duffy D, Rieux-Laucat F, Kerneis S and Terrier B.
  TITLE     Impaired type I interferon activity and inflammatory responses in
            severe COVID-19 patients
  JOURNAL   Science 369 (6504), 718-724 (2020)
   PUBMED   32661059
  REMARK    GeneRIF: Impaired type I interferon activity and inflammatory
            responses in severe COVID-19 patients.
REFERENCE   4  (bases 1 to 1144)
  AUTHORS   Nile SH, Nile A, Qiu J, Li L, Jia X and Kai G.
  TITLE     COVID-19: Pathogenesis, cytokine storm and therapeutic potential of
            interferons
  JOURNAL   Cytokine Growth Factor Rev 53, 66-70 (2020)
   PUBMED   32418715
  REMARK    Review article
REFERENCE   5  (bases 1 to 1144)
  AUTHORS   Li,G. and De Clercq,E.
  TITLE     Therapeutic options for the 2019 novel coronavirus (2019-nCoV)
  JOURNAL   Nat Rev Drug Discov 19 (3), 149-150 (2020)
   PUBMED   32127666
REFERENCE   6  (bases 1 to 1144)
  AUTHORS   Noel N, Jacquelin B, Huot N, Goujard C, Lambotte O and
            Muller-Trutwin M.
  TITLE     Interferon-associated therapies toward HIV control: The back and
            forth
  JOURNAL   Cytokine Growth Factor Rev 40, 99-112 (2018)
   PUBMED   29555233
  REMARK    Review article
REFERENCE   7  (bases 1 to 1144)
  AUTHORS   Sutter K, Dickow J and Dittmer U.
  TITLE     Interferon alpha subtypes in HIV infection
  JOURNAL   Cytokine Growth Factor Rev 40, 13-18 (2018)
   PUBMED   29475588
  REMARK    Review article
REFERENCE   8  (bases 1 to 1144)
  AUTHORS   Paul F, Pellegrini S and Uze G.
  TITLE     IFNA2: The prototypic human alpha interferon
  JOURNAL   Gene 567 (2), 132-137 (2015)
   PUBMED   25982860
  REMARK    GeneRIF: The structure, mechanism of action and biological
            activities of IFNalpha2. [Review] Review article
REFERENCE   9  (bases 1 to 1144)
  AUTHORS   El-Baky NA and Redwan EM.
  TITLE     Therapeutic alpha-interferons protein: structure, production, and
            biosimilar
  JOURNAL   Prep Biochem Biotechnol 45 (2), 109-127 (2015)
   PUBMED   24785737
  REMARK    Review article
REFERENCE   10  (bases 1 to 1144)
  AUTHORS   Olopade OI, Bohlander SK, Pomykala H, Maltepe E, Van Melle E, Le
            Beau MM and Diaz MO.
  TITLE     Mapping of the shortest region of overlap of deletions of the short
            arm of chromosome 9 associated with human neoplasia
  JOURNAL   Genomics 14 (2), 437-443 (1992)
   PUBMED   1385305
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: SRR1163658.305173.1, V00549.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in cytokine storm inflammatory
            response
            MANE Ensembl match       :: ENST00000380206.4/ ENSP00000369554.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL353732.14 and BC104163.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000605.3.
            Summary: This gene is a member of the alpha interferon gene cluster
            on chromosome 9. The encoded cytokine is a member of the type I
            interferon family that is produced in response to viral infection
            as a key part of the innate immune response with potent antiviral,
            antiproliferative and immunomodulatory properties. This cytokine,
            like other type I interferons, binds a plasma membrane receptor
            made of IFNAR1 and IFNAR2 that is ubiquitously expressed, and thus
            is able to act on virtually all body cells. The encoded protein is
            effective in reducing the symptoms and duration of the common cold
            and in treating many types of cancer, including some hematological
            malignancies and solid tumors. A deficiency of type I interferon in
            the blood is thought to be a hallmark of severe COVID-19 and may
            provide a rationale for a combined therapeutic approach. [provided
            by RefSeq, Aug 2020].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments and experimental data.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1144
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.3"
     gene            1..1144
                     /gene="IFNA2"
                     /gene_synonym="IFN-alpha-2; IFN-alphaA; IFNA; IFNA2B; leIF
                     A"
                     /note="interferon alpha 2"
                     /db_xref="GeneID:3440"
                     /db_xref="HGNC:HGNC:5423"
                     /db_xref="MIM:147562"
     misc_feature    16..18
                     /gene="IFNA2"
                     /gene_synonym="IFN-alpha-2; IFN-alphaA; IFNA; IFNA2B; leIF
                     A"
                     /note="upstream in-frame stop codon"
     CDS             70..636
                     /gene="IFNA2"
                     /gene_synonym="IFN-alpha-2; IFN-alphaA; IFNA; IFNA2B; leIF
                     A"
                     /note="alpha-2a interferon; interferon alpha 2b; interferon
                     alpha A; interferon alpha 2a"
                     /codon_start=1
                     /product="interferon alpha-2 precursor"
                     /protein_id="NP_000596.2"
                     /db_xref="CCDS:CCDS6506.1"
                     /db_xref="GeneID:3440"
                     /db_xref="HGNC:HGNC:5423"
                     /db_xref="MIM:147562"
                     /translation="MALTFALLVALLVLSCKSSCSVGCDLPQTHSLGSRRTLMLLAQMR
                     RISLFSCLKDRHDFGFPQEEFGNQFQKAETIPVLHEMIQQIFNLFSTKDSSAAWDETLL
                     DKFYTELYQQLNDLEACVIQGVGVTETPLMKEDSILAVRKYFQRITLYLKEKKYSPCAW
                     EVVRAEIMRSFSLSTNLQESLRSKE"
     sig_peptide     70..138
                     /gene="IFNA2"
                     /gene_synonym="IFN-alpha-2; IFN-alphaA; IFNA; IFNA2B; leIF
                     A"
                     /note="/evidence=ECO:0000269|PubMed:6159537,
                     ECO:0000269|PubMed:9425112; propagated from
                     UniProtKB/Swiss-Prot (P01563.2)"
     mat_peptide     139..633
                     /gene="IFNA2"
                     /gene_synonym="IFN-alpha-2; IFN-alphaA; IFNA; IFNA2B; leIF
                     A"
                     /product="Interferon alpha-2. /id=PRO_0000016360"
                     /note="propagated from UniProtKB/Swiss-Prot (P01563.2)"
     misc_feature    454..456
                     /gene="IFNA2"
                     /gene_synonym="IFN-alpha-2; IFN-alphaA; IFNA; IFNA2B; leIF
                     A"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:2049076. /id=CAR_000049;
                     propagated from UniProtKB/Swiss-Prot (P01563.2);
                     glycosylation site"
     regulatory      942..947
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFNA2"
                     /gene_synonym="IFN-alpha-2; IFN-alphaA; IFNA; IFNA2B; leIF
                     A"
                     /note="hexamer: AATAAA"
     polyA_site      970
                     /gene="IFNA2"
                     /gene_synonym="IFN-alpha-2; IFN-alphaA; IFNA; IFNA2B; leIF
                     A"
                     /note="major polyA site"
     regulatory      1125..1130
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFNA2"
                     /gene_synonym="IFN-alpha-2; IFN-alphaA; IFNA; IFNA2B; leIF
                     A"
                     /note="hexamer: AATAAA"
     polyA_site      1144
                     /gene="IFNA2"
                     /gene_synonym="IFN-alpha-2; IFN-alphaA; IFNA; IFNA2B; leIF
                     A"
                     /note="major polyA site"
ORIGIN
        1 agagaacctg gagcctaagg tttaggctca cccatttcaa ccagtctagc agcatctgca
       61 acatctacaa tggccttgac ctttgcttta ctggtggccc tcctggtgct cagctgcaag
      121 tcaagctgct ctgtgggctg tgatctgcct caaacccaca gcctgggtag caggaggacc
      181 ttgatgctcc tggcacagat gaggagaatc tctcttttct cctgcttgaa ggacagacat
      241 gactttggat ttccccagga ggagtttggc aaccagttcc aaaaggctga aaccatccct
      301 gtcctccatg agatgatcca gcagatcttc aatctcttca gcacaaagga ctcatctgct
      361 gcttgggatg agaccctcct agacaaattc tacactgaac tctaccagca gctgaatgac
      421 ctggaagcct gtgtgataca gggggtgggg gtgacagaga ctcccctgat gaaggaggac
      481 tccattctgg ctgtgaggaa atacttccaa agaatcactc tctatctgaa agagaagaaa
      541 tacagccctt gtgcctggga ggttgtcaga gcagaaatca tgagatcttt ttctttgtca
      601 acaaacttgc aagaaagttt aagaagtaag gaatgaaaac tggttcaaca tggaaatgat
      661 tttcattgat tcgtatgcca gctcaccttt ttatgatctg ccatttcaaa gactcatgtt
      721 tctgctatga ccatgacacg atttaaatct tttcaaatgt ttttaggagt attaatcaac
      781 attgtattca gctcttaagg cactagtccc ttacagagga ccatgctgac tgatccatta
      841 tctatttaaa tatttttaaa atattattta tttaactatt tataaaacaa cttatttttg
      901 ttcatattat gtcatgtgca cctttgcaca gtggttaatg taataaaata tgttctttgt
      961 atttggtaaa tttattttgt gttgttcatt gaacttttgc tatggaaact tttgtacttg
     1021 tttattcttt aaaatgaaat tccaagccta attgtgcaac ctgattacag aataactggt
     1081 acacttcatt tatccatcaa tattatattc aagatataag taaaaataaa ctttctgtaa
     1141 acca
//
LOCUS       NM_000606                881 bp    mRNA    linear   PRI 28-JUL-2023
DEFINITION  Homo sapiens complement C8 gamma chain (C8G), mRNA.
ACCESSION   NM_000606
VERSION     NM_000606.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 881)
  AUTHORS   Yang Y, Shen T, Li M, Leng B, Yao R, Gao Y, Sun H, Li Z and Zhang J.
  TITLE     Elevated complement component 8 gamma levels in astrocyte-derived
            exosomes are associated with cognitive impairment in obstructive
            sleep apnea patients without dementia
  JOURNAL   Neurosci Lett 794, 137010 (2023)
   PUBMED   36509166
  REMARK    GeneRIF: Elevated complement component 8 gamma levels in
            astrocyte-derived exosomes are associated with cognitive impairment
            in obstructive sleep apnea patients without dementia.
REFERENCE   2  (bases 1 to 881)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 881)
  AUTHORS   Menny A, Serna M, Boyd CM, Gardner S, Joseph AP, Morgan BP, Topf M,
            Brooks NJ and Bubeck D.
  TITLE     CryoEM reveals how the complement membrane attack complex ruptures
            lipid bilayers
  JOURNAL   Nat Commun 9 (1), 5316 (2018)
   PUBMED   30552328
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 881)
  AUTHORS   Franc V, Zhu J and Heck AJR.
  TITLE     Comprehensive Proteoform Characterization of Plasma Complement
            Component C8alphabetagamma by Hybrid Mass Spectrometry Approaches
  JOURNAL   J Am Soc Mass Spectrom 29 (6), 1099-1110 (2018)
   PUBMED   29532326
  REMARK    GeneRIF: These data provide a detailed specification of co-occurring
            C8 proteoforms, including experimental evidence on N-glycosylation,
            C-mannosylation, and O-glycosylation.
REFERENCE   5  (bases 1 to 881)
  AUTHORS   Bastos-Amador P, Royo F, Gonzalez E, Conde-Vancells J, Palomo-Diez
            L, Borras FE and Falcon-Perez JM.
  TITLE     Proteomic analysis of microvesicles from plasma of healthy donors
            reveals high individual variability
  JOURNAL   J Proteomics 75 (12), 3574-3584 (2012)
   PUBMED   22516433
REFERENCE   6  (bases 1 to 881)
  AUTHORS   Haefliger JA, Peitsch MC, Jenne DE and Tschopp J.
  TITLE     Structural and functional characterization of complement C8 gamma, a
            member of the lipocalin protein family
  JOURNAL   Mol Immunol 28 (1-2), 123-131 (1991)
   PUBMED   1707134
REFERENCE   7  (bases 1 to 881)
  AUTHORS   Kaufman KM, Snider JV, Spurr NK, Schwartz CE and Sodetz JM.
  TITLE     Chromosomal assignment of genes encoding the alpha, beta, and gamma
            subunits of human complement protein C8: identification of a close
            physical linkage between the alpha and the beta loci
  JOURNAL   Genomics 5 (3), 475-480 (1989)
   PUBMED   2613233
REFERENCE   8  (bases 1 to 881)
  AUTHORS   Muller-Eberhard HJ.
  TITLE     Molecular organization and function of the complement system
  JOURNAL   Annu Rev Biochem 57, 321-347 (1988)
   PUBMED   3052276
  REMARK    Review article
REFERENCE   9  (bases 1 to 881)
  AUTHORS   Haefliger JA, Jenne D, Stanley KK and Tschopp J.
  TITLE     Structural homology of human complement component C8 gamma and
            plasma protein HC: identity of the cysteine bond pattern
  JOURNAL   Biochem Biophys Res Commun 149 (2), 750-754 (1987)
   PUBMED   2447883
REFERENCE   10  (bases 1 to 881)
  AUTHORS   Hunt LT, Elzanowski A and Barker WC.
  TITLE     The homology of complement factor C8 gamma chain and
            alpha-1-microglobulin
  JOURNAL   Biochem Biophys Res Commun 149 (1), 282-288 (1987)
   PUBMED   2446620
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.154141.1,
            SRR5189664.119234.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371634.7/ ENSP00000360697.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY027599.1, X06465.1,
            BX282392.1 and GD261753.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 11, 2018 this sequence version replaced NM_000606.2.
            Summary: The protein encoded by this gene belongs to the lipocalin
            family. It is one of the three subunits that constitutes complement
            component 8 (C8), which is composed of a disulfide-linked C8
            alpha-gamma heterodimer and a non-covalently associated C8 beta
            chain. C8 participates in the formation of the membrane attack
            complex (MAC) on bacterial cell membranes. While subunits alpha and
            beta play a role in complement-mediated bacterial killing, the
            gamma subunit is not required for the bactericidal activity.
            [provided by RefSeq, Jul 2011].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..881
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..881
                     /gene="C8G"
                     /gene_synonym="C8C"
                     /note="complement C8 gamma chain"
                     /db_xref="GeneID:733"
                     /db_xref="HGNC:HGNC:1354"
                     /db_xref="MIM:120930"
     CDS             79..687
                     /gene="C8G"
                     /gene_synonym="C8C"
                     /note="complement component C8 gamma chain; complement
                     component 8, gamma polypeptide"
                     /codon_start=1
                     /product="complement component C8 gamma chain precursor"
                     /protein_id="NP_000597.2"
                     /db_xref="CCDS:CCDS7017.1"
                     /db_xref="GeneID:733"
                     /db_xref="HGNC:HGNC:1354"
                     /db_xref="MIM:120930"
                     /translation="MLPPGTATLLTLLLAAGSLGQKPQRPRRPASPISTIQPKANFDAQ
                     QFAGTWLLVAVGSACRFLQEQGHRAEATTLHVAPQGTAMAVSTFRKLDGICWQVRQLYG
                     DTGVLGRFLLQARDARGAVHVVVAETDYQSFAVLYLERAGQLSVKLYARSLPVSDSVLS
                     GFEQRVQEAHLTEDQIFYFPKYGFCEAADQFHVLDEVRR"
     sig_peptide     79..138
                     /gene="C8G"
                     /gene_synonym="C8C"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     139..684
                     /gene="C8G"
                     /gene_synonym="C8C"
                     /product="Complement component C8 gamma chain.
                     /id=PRO_0000017881"
                     /note="propagated from UniProtKB/Swiss-Prot (P07360.3)"
     misc_feature    139..141
                     /gene="C8G"
                     /gene_synonym="C8C"
                     /note="Pyrrolidone carboxylic acid.
                     /evidence=ECO:0000269|PubMed:3676249; propagated from
                     UniProtKB/Swiss-Prot (P07360.3);
                     pyrrolidone-carboxylic-acid site"
     regulatory      862..867
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8G"
                     /gene_synonym="C8C"
                     /note="hexamer: ATTAAA"
     polyA_site      880
                     /gene="C8G"
                     /gene_synonym="C8C"
                     /note="major polyA site"
ORIGIN
        1 agcagagtag actctgtcct gggacttggt ggtgctaccc ttggcctccc acagtcctgc
       61 caccctgctg ccgccaccat gctgccccct gggactgcga ccctcttgac tctgctcctg
      121 gcagctggct cgctgggcca gaagcctcag aggccacgcc ggcccgcatc ccccatcagc
      181 accatccagc ccaaggccaa ttttgatgct cagcagtttg cagggacctg gctccttgtg
      241 gctgtgggct ccgcttgccg tttcctgcag gagcagggcc accgggccga ggccaccaca
      301 ctgcatgtgg ctccccaggg cacagccatg gctgtcagta ccttccgaaa gctggatggg
      361 atctgctggc aggtgcgcca gctctatgga gacacagggg tcctcggccg cttcctgctt
      421 caagcccgag acgcccgagg ggctgtgcac gtggttgtcg ctgagaccga ctaccagagt
      481 ttcgctgtcc tgtacctgga gcgggcgggg cagctgtcag tgaagctcta cgcccgctcg
      541 ctccctgtga gcgactcggt cctgagtggg tttgagcagc gggtccagga ggcccacctg
      601 actgaggacc agatcttcta cttccccaag tacggcttct gcgaggctgc agaccagttc
      661 cacgtcctgg acgaagtgag gaggtgaggc cggcacacag ctccagtgct gagaagtcag
      721 tgccccgaga gacgacccca ccagtggggt gcccgctgcc tgtcctccgt gaaaccagcc
      781 tcagatcagg gccctgccac ccagggcagg ggatcttctg ccggctgccc cagaggacag
      841 tgggtggagt ggtacctact tattaaatgt ctcagacccc t
//
LOCUS       NM_000607                764 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens orosomucoid 1 (ORM1), mRNA.
ACCESSION   NM_000607
VERSION     NM_000607.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 764)
  AUTHORS   Yue L, Xu X, Dai S, Xu F, Zhao W, Gu J, Dai X and Qian X.
  TITLE     Orosomucoid 1 promotes colorectal cancer progression and liver
            metastasis by affecting PI3K/AKT pathway and inducing macrophage M2
            polarization
  JOURNAL   Sci Rep 13 (1), 14092 (2023)
   PUBMED   37640741
  REMARK    GeneRIF: Orosomucoid 1 promotes colorectal cancer progression and
            liver metastasis by affecting PI3K/AKT pathway and inducing
            macrophage M2 polarization. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 764)
  AUTHORS   Martin-Fernandez L, Garcia-Martinez I, Lopez S, Martinez-Perez A,
            Vilalta N, Plaza M, Moret C, Vinuela A, Brown AA, Panousis NI, Buil
            A, Dermitzakis ET, Corrales I, Souto JC, Vidal F and Soria JM.
  TITLE     Multiallelic Copy Number Variation in ORM1 is Associated with Plasma
            Cell-Free DNA Levels as an Intermediate Phenotype for Venous
            Thromboembolism
  JOURNAL   Thromb Haemost 123 (4), 438-452 (2023)
   PUBMED   36696913
  REMARK    GeneRIF: Multiallelic Copy Number Variation in ORM1 is Associated
            with Plasma Cell-Free DNA Levels as an Intermediate Phenotype for
            Venous Thromboembolism.
REFERENCE   3  (bases 1 to 764)
  AUTHORS   Yang BF, Zhai F, Yu S, An HJ, Cao ZH, Liu YH, Wang R and Cheng XX.
  TITLE     Evaluation of IFIT3 and ORM1 as Biomarkers for Discriminating Active
            Tuberculosis from Latent Infection
  JOURNAL   Curr Med Sci 42 (6), 1201-1212 (2022)
   PUBMED   36462134
  REMARK    GeneRIF: Evaluation of IFIT3 and ORM1 as Biomarkers for
            Discriminating Active Tuberculosis from Latent Infection.
REFERENCE   4  (bases 1 to 764)
  AUTHORS   Gu J, Xu S, Chen X, Luo H, Tan G, Qi W, Ling F, Wang C, Maimaiti F,
            Chen Y, Yang L, Yin M and Chen D.
  TITLE     ORM 1 as a biomarker of increased vascular invasion and decreased
            sorafenib sensitivity in hepatocellular carcinoma
  JOURNAL   Bosn J Basic Med Sci 22 (6), 949-958 (2022)
   PUBMED   35765957
  REMARK    GeneRIF: ORM 1 as a biomarker of increased vascular invasion and
            decreased sorafenib sensitivity in hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 764)
  AUTHORS   Lopez S, Martinez-Perez A, Rodriguez-Rius A, Vinuela A, Brown AA,
            Martin-Fernandez L, Vilalta N, Arus M, Panousis NI, Buil A,
            Sabater-Lleal M, Souto JC, Dermitzakis ET and Soria JM.
  TITLE     Integrated GWAS and Gene Expression Suggest ORM1 as a Potential
            Regulator of Plasma Levels of Cell-Free DNA and Thrombosis Risk
  JOURNAL   Thromb Haemost 122 (6), 1027-1039 (2022)
   PUBMED   35272364
  REMARK    GeneRIF: Integrated GWAS and Gene Expression Suggest ORM1 as a
            Potential Regulator of Plasma Levels of Cell-Free DNA and Thrombosis
            Risk.
REFERENCE   6  (bases 1 to 764)
  AUTHORS   Treuheit MJ, Costello CE and Halsall HB.
  TITLE     Analysis of the five glycosylation sites of human alpha 1-acid
            glycoprotein
  JOURNAL   Biochem J 283 (Pt 1) (Pt 1), 105-112 (1992)
   PUBMED   1567356
REFERENCE   7  (bases 1 to 764)
  AUTHORS   Zuffardi O, Caiulo A, Maraschio P, Tupler R, Bianchi E, Amisano P,
            Beluffi G, Moratti R and Liguri G.
  TITLE     Regional assignment of the loci for adenylate kinase to 9q32 and for
            alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in
            region 9q32-qter?
  JOURNAL   Hum Genet 82 (1), 17-19 (1989)
   PUBMED   2541064
REFERENCE   8  (bases 1 to 764)
  AUTHORS   Dube JY, Paradis G, Tetu B and Tremblay RR.
  TITLE     Synthesis of alpha 1-acid glycoprotein by the human prostate
  JOURNAL   Prostate 15 (3), 251-258 (1989)
   PUBMED   2479939
REFERENCE   9  (bases 1 to 764)
  AUTHORS   Dente L, Pizza MG, Metspalu A and Cortese R.
  TITLE     Structure and expression of the genes coding for human alpha 1-acid
            glycoprotein
  JOURNAL   EMBO J 6 (8), 2289-2296 (1987)
   PUBMED   2822385
REFERENCE   10  (bases 1 to 764)
  AUTHORS   Dente,L., Ciliberto,G. and Cortese,R.
  TITLE     Structure of the human alpha 1-acid glycoprotein gene: sequence
            homology with other human acute phase protein genes
  JOURNAL   Nucleic Acids Res 13 (11), 3941-3952 (1985)
   PUBMED   2409529
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BU930416.1, BG616847.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA2142363 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000259396.9/ ENSP00000259396.8
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356796.16.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 10, 2020 this sequence version replaced NM_000607.3.
            Summary: This gene encodes a key acute phase plasma protein.
            Because of its increase due to acute inflammation, this protein is
            classified as an acute-phase reactant.  The specific function of
            this protein has not yet been determined; however, it may be
            involved in aspects of immunosuppression. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..764
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q32"
     gene            1..764
                     /gene="ORM1"
                     /gene_synonym="A1AG1; AGP-A; AGP1; HEL-S-153w; ORM"
                     /note="orosomucoid 1"
                     /db_xref="GeneID:5004"
                     /db_xref="HGNC:HGNC:8498"
                     /db_xref="MIM:138600"
     CDS             37..642
                     /gene="ORM1"
                     /gene_synonym="A1AG1; AGP-A; AGP1; HEL-S-153w; ORM"
                     /note="alpha-1-acid glycoprotein 1; AGP 1; OMD 1;
                     epididymis secretory sperm binding protein Li 153w"
                     /codon_start=1
                     /product="alpha-1-acid glycoprotein 1 precursor"
                     /protein_id="NP_000598.2"
                     /db_xref="CCDS:CCDS6803.1"
                     /db_xref="GeneID:5004"
                     /db_xref="HGNC:HGNC:8498"
                     /db_xref="MIM:138600"
                     /translation="MALSWVLTVLSLLPLLEAQIPLCANLVPVPITNATLDRITGKWFY
                     IASAFRNEEYNKSVQEIQATFFYFTPNKTEDTIFLREYQTRQDQCIYNTTYLNVQRENG
                     TISRYVGGQEHFAHLLILRDTKTYMLAFDVNDEKNWGLSVYADKPETTKEQLGEFYEAL
                     DCLRIPKSDVVYTDWKKDKCEPLEKQHEKERKQEEGES"
     sig_peptide     37..90
                     /gene="ORM1"
                     /gene_synonym="A1AG1; AGP-A; AGP1; HEL-S-153w; ORM"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     91..639
                     /gene="ORM1"
                     /gene_synonym="A1AG1; AGP-A; AGP1; HEL-S-153w; ORM"
                     /product="Alpha-1-acid glycoprotein 1. /id=PRO_0000017860"
                     /note="propagated from UniProtKB/Swiss-Prot (P02763.2)"
     misc_feature    91..93
                     /gene="ORM1"
                     /gene_synonym="A1AG1; AGP-A; AGP1; HEL-S-153w; ORM"
                     /note="Pyrrolidone carboxylic acid.
                     /evidence=ECO:0000269|PubMed:4711474; propagated from
                     UniProtKB/Swiss-Prot (P02763.2);
                     pyrrolidone-carboxylic-acid site"
     misc_feature    133..135
                     /gene="ORM1"
                     /gene_synonym="A1AG1; AGP-A; AGP1; HEL-S-153w; ORM"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:14760718, ECO:0000269|PubMed:15084671,
                     ECO:0000269|PubMed:15253437, ECO:0000269|PubMed:1567356,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19838169,
                     ECO:0000269|PubMed:22171320; propagated from
                     UniProtKB/Swiss-Prot (P02763.2); glycosylation site"
     misc_feature    202..204
                     /gene="ORM1"
                     /gene_synonym="A1AG1; AGP-A; AGP1; HEL-S-153w; ORM"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:1567356, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:4603214; propagated from
                     UniProtKB/Swiss-Prot (P02763.2); glycosylation site"
     misc_feature    250..252
                     /gene="ORM1"
                     /gene_synonym="A1AG1; AGP-A; AGP1; HEL-S-153w; ORM"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:15253437, ECO:0000269|PubMed:1567356,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19838169;
                     propagated from UniProtKB/Swiss-Prot (P02763.2);
                     glycosylation site"
     misc_feature    313..315
                     /gene="ORM1"
                     /gene_synonym="A1AG1; AGP-A; AGP1; HEL-S-153w; ORM"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:15084671, ECO:0000269|PubMed:15253437,
                     ECO:0000269|PubMed:1567356, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:16740002, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:4603214; propagated from
                     UniProtKB/Swiss-Prot (P02763.2); glycosylation site"
     misc_feature    343..345
                     /gene="ORM1"
                     /gene_synonym="A1AG1; AGP-A; AGP1; HEL-S-153w; ORM"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:1567356, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218. /id=CAR_000170; propagated
                     from UniProtKB/Swiss-Prot (P02763.2); glycosylation site"
     regulatory      736..741
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ORM1"
                     /gene_synonym="A1AG1; AGP-A; AGP1; HEL-S-153w; ORM"
                     /note="hexamer: AATAAA"
     polyA_site      764
                     /gene="ORM1"
                     /gene_synonym="A1AG1; AGP-A; AGP1; HEL-S-153w; ORM"
                     /note="major polyA site"
ORIGIN
        1 agcactgcct ggctccacgt gcctcctggt ctcagtatgg cgctgtcctg ggttcttaca
       61 gtcctgagcc tcctacctct gctggaagcc cagatcccat tgtgtgccaa cctagtaccg
      121 gtgcccatca ccaacgccac cctggaccgg atcactggca agtggtttta tatcgcatcg
      181 gcctttcgaa acgaggagta caataagtcg gttcaggaga tccaagcaac cttcttttac
      241 ttcaccccca acaagacaga ggacacgatc tttctcagag agtaccagac ccgacaggac
      301 cagtgcatct ataacaccac ctacctgaat gtccagcggg aaaatgggac catctccaga
      361 tacgtgggag gccaagagca tttcgctcac ttgctgatcc tcagggacac caagacctac
      421 atgcttgctt ttgacgtgaa cgatgagaag aactgggggc tgtctgtcta tgctgacaag
      481 ccagagacga ccaaggagca actgggagag ttctacgaag ctctcgactg cttgcgcatt
      541 cccaagtcag atgtcgtgta caccgattgg aaaaaggata agtgtgagcc actggagaag
      601 cagcacgaga aggagaggaa acaggaggag ggggaatcct agcaggacac agccttggat
      661 caggacagag acttgggggc catcctgccc ctccaacccg acatgtgtac ctcagctttt
      721 tccctcactt gcatcaataa agcttctgtg tttggaacag ctaa
//
LOCUS       NM_000608                759 bp    mRNA    linear   PRI 02-MAY-2023
DEFINITION  Homo sapiens orosomucoid 2 (ORM2), mRNA.
ACCESSION   NM_000608
VERSION     NM_000608.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 759)
  AUTHORS   Ge Y, Xu B, Cai H, Jing W, Ouyang Q, Yuan Q, Li X, Fan Y, Shen Y,
            Shi Q, Wang Q, Cui L, Yin X and Ma G.
  TITLE     Diagnostic role of plasma ORM2 in differentiating prostate cancer
            from benign prostatic hyperplasia
  JOURNAL   J Cancer Res Clin Oncol 149 (6), 2301-2310 (2023)
   PUBMED   36198834
  REMARK    GeneRIF: Diagnostic role of plasma ORM2 in differentiating prostate
            cancer from benign prostatic hyperplasia.
REFERENCE   2  (bases 1 to 759)
  AUTHORS   Nakamura Y, Iwata S, Yokoi K, Mizutani Y, Yoshikane M, Kawase K,
            Kato T, Kobayashi S, Goto H, Saitoh S and Iwata O.
  TITLE     Influence of Intrauterine Inflammation, Delivery, and Postnatal
            Feeding on the Temporal Changes of Serum Alpha 1 Acid Glycoprotein
            Levels in Extremely-Low-Birth-Weight Infants
  JOURNAL   Nutrients 14 (23), 5162 (2022)
   PUBMED   36501194
  REMARK    GeneRIF: Influence of Intrauterine Inflammation, Delivery, and
            Postnatal Feeding on the Temporal Changes of Serum Alpha 1 Acid
            Glycoprotein Levels in Extremely-Low-Birth-Weight Infants.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 759)
  AUTHORS   Elpek GO.
  TITLE     Orosomucoid in liver diseases
  JOURNAL   World J Gastroenterol 27 (45), 7739-7747 (2021)
   PUBMED   34963738
  REMARK    GeneRIF: Orosomucoid in liver diseases.
REFERENCE   4  (bases 1 to 759)
  AUTHORS   Sabry R, El-Madbouly AA, Abozeid HE and Hassan MM.
  TITLE     Urinary Orosomucoid - 2 and Soluble CD14 as Potential Biomarkers for
            Assessment of Disease Activity in Rheumatoid Arthritis
  JOURNAL   Egypt J Immunol 25 (2), 107-116 (2018)
   PUBMED   30600953
  REMARK    GeneRIF: Urinary ORM-2 and sCD14 levels were increased in patients
            with Rheumatoid Arthritis and were correlated with the disease
            activity.
REFERENCE   5  (bases 1 to 759)
  AUTHORS   Zhang D, Huang J, Luo D, Feng X, Liu Y and Liu Y.
  TITLE     Glycosylation change of alpha-1-acid glycoprotein as a serum
            biomarker for hepatocellular carcinoma and cirrhosis
  JOURNAL   Biomark Med 11 (5), 423-430 (2017)
   PUBMED   28621608
  REMARK    GeneRIF: the glycosylation change of alpha-1-acid glycoprotein (AGP)
            in hepatocellular carcinoma (HCC), cirrhosis and controls
REFERENCE   6  (bases 1 to 759)
  AUTHORS   Treuheit MJ, Costello CE and Halsall HB.
  TITLE     Analysis of the five glycosylation sites of human alpha 1-acid
            glycoprotein
  JOURNAL   Biochem J 283 (Pt 1) (Pt 1), 105-112 (1992)
   PUBMED   1567356
REFERENCE   7  (bases 1 to 759)
  AUTHORS   Merritt CM and Board PG.
  TITLE     Structure and characterisation of a duplicated human alpha 1 acid
            glycoprotein gene
  JOURNAL   Gene 66 (1), 97-106 (1988)
   PUBMED   2970990
REFERENCE   8  (bases 1 to 759)
  AUTHORS   Yuasa I, Suenaga K, Umetsu K, Ito K and Robinet-Levy M.
  TITLE     Orosomucoid (ORM) typing by isoelectric focusing: evidence for gene
            duplication of ORM1 and genetic polymorphism of ORM2
  JOURNAL   Hum Genet 77 (3), 255-258 (1987)
   PUBMED   3679210
REFERENCE   9  (bases 1 to 759)
  AUTHORS   Escallon,M.H., Ferrell,R.E. and Kamboh,M.I.
  TITLE     Genetic studies of low-abundance human plasma proteins. V. Evidence
            for a second orosomucoid structural locus (ORM2) expressed in plasma
  JOURNAL   Am J Hum Genet 41 (3), 418-427 (1987)
   PUBMED   3631077
REFERENCE   10  (bases 1 to 759)
  AUTHORS   Dente L, Pizza MG, Metspalu A and Cortese R.
  TITLE     Structure and expression of the genes coding for human alpha 1-acid
            glycoprotein
  JOURNAL   EMBO J 6 (8), 2289-2296 (1987)
   PUBMED   2822385
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BG618005.1, BC056239.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000431067.4/ ENSP00000394936.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356796.16.
            On Dec 11, 2019 this sequence version replaced NM_000608.3.
            Summary: This gene encodes a key acute phase plasma protein.
            Because of its increase due to acute inflammation, this protein is
            classified as an acute-phase reactant.  The specific function of
            this protein has not yet been determined; however, it may be
            involved in aspects of immunosuppression. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..759
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q32"
     gene            1..759
                     /gene="ORM2"
                     /gene_synonym="AGP-B; AGP-B'; AGP2"
                     /note="orosomucoid 2"
                     /db_xref="GeneID:5005"
                     /db_xref="HGNC:HGNC:8499"
                     /db_xref="MIM:138610"
     CDS             37..642
                     /gene="ORM2"
                     /gene_synonym="AGP-B; AGP-B'; AGP2"
                     /note="alpha-1-acid glycoprotein, type 2; alpha-1-acid
                     glycoprotein 2; AGP 2; OMD 2"
                     /codon_start=1
                     /product="alpha-1-acid glycoprotein 2 precursor"
                     /protein_id="NP_000599.1"
                     /db_xref="CCDS:CCDS6804.1"
                     /db_xref="GeneID:5005"
                     /db_xref="HGNC:HGNC:8499"
                     /db_xref="MIM:138610"
                     /translation="MALSWVLTVLSLLPLLEAQIPLCANLVPVPITNATLDRITGKWFY
                     IASAFRNEEYNKSVQEIQATFFYFTPNKTEDTIFLREYQTRQNQCFYNSSYLNVQRENG
                     TVSRYEGGREHVAHLLFLRDTKTLMFGSYLDDEKNWGLSFYADKPETTKEQLGEFYEAL
                     DCLCIPRSDVMYTDWKKDKCEPLEKQHEKERKQEEGES"
     sig_peptide     37..90
                     /gene="ORM2"
                     /gene_synonym="AGP-B; AGP-B'; AGP2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     91..639
                     /gene="ORM2"
                     /gene_synonym="AGP-B; AGP-B'; AGP2"
                     /product="Alpha-1-acid glycoprotein 2. /id=PRO_0000017861"
                     /note="propagated from UniProtKB/Swiss-Prot (P19652.2)"
     misc_feature    91..93
                     /gene="ORM2"
                     /gene_synonym="AGP-B; AGP-B'; AGP2"
                     /note="Pyrrolidone carboxylic acid.
                     /evidence=ECO:0000269|PubMed:15253437; propagated from
                     UniProtKB/Swiss-Prot (P19652.2);
                     pyrrolidone-carboxylic-acid site"
     misc_feature    133..135
                     /gene="ORM2"
                     /gene_synonym="AGP-B; AGP-B'; AGP2"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:15084671, ECO:0000269|PubMed:15253437,
                     ECO:0000269|PubMed:1567356, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19838169,
                     ECO:0000269|PubMed:22171320; propagated from
                     UniProtKB/Swiss-Prot (P19652.2); glycosylation site"
     misc_feature    202..204
                     /gene="ORM2"
                     /gene_synonym="AGP-B; AGP-B'; AGP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:1567356, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P19652.2); glycosylation site"
     misc_feature    250..252
                     /gene="ORM2"
                     /gene_synonym="AGP-B; AGP-B'; AGP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:1567356, ECO:0000269|PubMed:16335952;
                     propagated from UniProtKB/Swiss-Prot (P19652.2);
                     glycosylation site"
     misc_feature    313..315
                     /gene="ORM2"
                     /gene_synonym="AGP-B; AGP-B'; AGP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:15253437, ECO:0000269|PubMed:1567356,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (P19652.2);
                     glycosylation site"
     misc_feature    343..345
                     /gene="ORM2"
                     /gene_synonym="AGP-B; AGP-B'; AGP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:1567356,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218.
                     /id=CAR_000171; propagated from UniProtKB/Swiss-Prot
                     (P19652.2); glycosylation site"
     regulatory      736..741
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ORM2"
                     /gene_synonym="AGP-B; AGP-B'; AGP2"
                     /note="hexamer: AATAAA"
     polyA_site      759
                     /gene="ORM2"
                     /gene_synonym="AGP-B; AGP-B'; AGP2"
                     /note="major polyA site"
ORIGIN
        1 agcactgcct ggctccacgt gcctcctggt ctcagtatgg cgctgtcctg ggttcttaca
       61 gtcctgagcc tcctacctct gctggaagcc cagatcccat tgtgtgccaa cctagtaccg
      121 gtgcccatca ccaacgccac cctggaccgg atcactggca agtggtttta tatcgcatcg
      181 gcctttcgaa acgaggagta caataagtcg gttcaggaga tccaagcaac cttcttttac
      241 tttaccccca acaagacaga ggacacgatc tttctcagag agtaccagac ccgccagaac
      301 cagtgcttct ataactccag ttacctgaat gtccagcggg agaatgggac cgtctccaga
      361 tacgagggag gccgagaaca tgttgctcac ctgctgttcc ttagggacac caagaccttg
      421 atgtttggtt cctacctgga cgatgagaag aactgggggc tgtctttcta tgctgacaag
      481 ccagagacga ccaaggagca actgggagag ttctacgaag ctctcgactg cttgtgcatt
      541 cccaggtcag atgtcatgta caccgactgg aaaaaggata agtgtgagcc actggagaag
      601 cagcacgaga aggagaggaa acaggaggag ggggaatcct agcaggacac agccttggat
      661 caggacagag acttgggggc catcctgccc ctccaacccg acatgtgtac ctcagctttt
      721 tccctcactt gcatcaataa agcttctgtg tttggaaca
//
LOCUS       NM_000610               5431 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript
            variant 1, mRNA.
ACCESSION   NM_000610
VERSION     NM_000610.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5431)
  AUTHORS   Fernandez-Tabanera E, Garcia-Garcia L, Rodriguez-Martin C, Cervera
            ST, Gonzalez-Gonzalez L, Robledo C, Josa S, Martinez S, Chapado L,
            Monzon S, Melero-Fernandez de Mera RM and Alonso J.
  TITLE     CD44 Modulates Cell Migration and Invasion in Ewing Sarcoma Cells
  JOURNAL   Int J Mol Sci 24 (14), 11774 (2023)
   PUBMED   37511533
  REMARK    GeneRIF: CD44 Modulates Cell Migration and Invasion in Ewing Sarcoma
            Cells. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5431)
  AUTHORS   Savli TB, Pasaoglu HE, Savli TC, Muhammedoglu A, Tokocin M and
            Ozturk C.
  TITLE     Expression of cytotoxic T lymphocyte-associated antigen 4, CD44, and
            E-cadherin in the microenvironment of breast carcinomas
  JOURNAL   Rev Assoc Med Bras (1992) 69 (7), e20230371 (2023)
   PUBMED   37466609
  REMARK    GeneRIF: Expression of cytotoxic T lymphocyte-associated antigen 4,
            CD44, and E-cadherin in the microenvironment of breast carcinomas.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5431)
  AUTHORS   Chan YH, Tsai FC, Chang GJ, Lai YJ, Chang SH, Chen WJ and Yeh YH.
  TITLE     CD44 regulates Epac1-mediated beta-adrenergic-receptor-induced
            Ca2+-handling abnormalities: implication in cardiac arrhythmias
  JOURNAL   J Biomed Sci 30 (1), 55 (2023)
   PUBMED   37452346
  REMARK    GeneRIF: CD44 regulates Epac1-mediated
            beta-adrenergic-receptor-induced Ca[2+]-handling abnormalities:
            implication in cardiac arrhythmias. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5431)
  AUTHORS   Bonente D, Bianchi L, De Salvo R, Nicoletti C, De Benedetto E, Bacci
            T, Bini L, Inzalaco G, Franci L, Chiariello M, Tosi GM, Bertelli E
            and Barone V.
  TITLE     Co-Expression of Podoplanin and CD44 in Proliferative
            Vitreoretinopathy Epiretinal Membranes
  JOURNAL   Int J Mol Sci 24 (11), 9728 (2023)
   PUBMED   37298679
  REMARK    GeneRIF: Co-Expression of Podoplanin and CD44 in Proliferative
            Vitreoretinopathy Epiretinal Membranes. Review article Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 5431)
  AUTHORS   Novosad VO and Maltseva DV.
  TITLE     The RNA-Binding Proteins OAS1, ZFP36L2, and DHX58 Are Involved in
            the Regulation of CD44 mRNA Splicing in Colorectal Cancer Cells
  JOURNAL   Bull Exp Biol Med 175 (1), 144-149 (2023)
   PUBMED   37336810
  REMARK    GeneRIF: The RNA-Binding Proteins OAS1, ZFP36L2, and DHX58 Are
            Involved in the Regulation of CD44 mRNA Splicing in Colorectal
            Cancer Cells.
REFERENCE   6  (bases 1 to 5431)
  AUTHORS   Screaton GR, Bell MV, Jackson DG, Cornelis FB, Gerth U and Bell JI.
  TITLE     Genomic structure of DNA encoding the lymphocyte homing receptor
            CD44 reveals at least 12 alternatively spliced exons
  JOURNAL   Proc Natl Acad Sci U S A 89 (24), 12160-12164 (1992)
   PUBMED   1465456
REFERENCE   7  (bases 1 to 5431)
  AUTHORS   Kugelman LC, Ganguly S, Haggerty JG, Weissman SM and Milstone LM.
  TITLE     The core protein of epican, a heparan sulfate proteoglycan on
            keratinocytes, is an alternative form of CD44
  JOURNAL   J Invest Dermatol 99 (6), 886-891 (1992)
   PUBMED   1281868
REFERENCE   8  (bases 1 to 5431)
  AUTHORS   Arch R, Wirth K, Hofmann M, Ponta H, Matzku S, Herrlich P and Zoller
            M.
  TITLE     Participation in normal immune responses of a metastasis-inducing
            splice variant of CD44
  JOURNAL   Science 257 (5070), 682-685 (1992)
   PUBMED   1496383
REFERENCE   9  (bases 1 to 5431)
  AUTHORS   Jackson DG, Buckley J and Bell JI.
  TITLE     Multiple variants of the human lymphocyte homing receptor CD44
            generated by insertions at a single site in the extracellular domain
  JOURNAL   J Biol Chem 267 (7), 4732-4739 (1992)
   PUBMED   1537855
REFERENCE   10  (bases 1 to 5431)
  AUTHORS   Aruffo A, Stamenkovic I, Melnick M, Underhill CB and Seed B.
  TITLE     CD44 is the principal cell surface receptor for hyaluronate
  JOURNAL   Cell 61 (7), 1303-1313 (1990)
   PUBMED   1694723
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.2726944.1, AJ251595.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000428726.8/ ENSP00000398632.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL832642.2, BF872530.1,
            BC004372.1, BF828674.1, AY101192.1, CD721908.1 and AK127622.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000610.3.
            Summary: The protein encoded by this gene is a cell-surface
            glycoprotein involved in cell-cell interactions, cell adhesion and
            migration. It is a receptor for hyaluronic acid (HA) and can also
            interact with other ligands, such as osteopontin, collagens, and
            matrix metalloproteinases (MMPs). This protein participates in a
            wide variety of cellular functions including lymphocyte activation,
            recirculation and homing, hematopoiesis, and tumor metastasis.
            Transcripts for this gene undergo complex alternative splicing that
            results in many functionally distinct isoforms, however, the full
            length nature of some of these variants has not been determined.
            Alternative splicing is the basis for the structural and functional
            diversity of this protein, and may be related to tumor metastasis.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript. It encodes the longest isoform (1).
            Sequence Note: This RefSeq record represents the CD44*001.1.1
            allele.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5431
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..5431
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="CD44 molecule (Indian blood group)"
                     /db_xref="GeneID:960"
                     /db_xref="HGNC:HGNC:1681"
                     /db_xref="MIM:107269"
     CDS             134..2362
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; hematopoietic cell E- and L-selectin ligand; chondroitin
                     sulfate proteoglycan 8; cell surface glycoprotein CD44;
                     GP90 lymphocyte homing/adhesion receptor; heparan sulfate
                     proteoglycan; hyaluronate receptor; Indian blood group
                     antigen; Hermes antigen; homing function and Indian blood
                     group system; CD44 antigen; phagocyte glycoprotein 1;
                     In(Lu) related-p80; homing cell adhesion molecule; epican;
                     soluble CD44; phagocytic glycoprotein 1; extracellular
                     matrix receptor III"
                     /codon_start=1
                     /product="CD44 antigen isoform 1 precursor"
                     /protein_id="NP_000601.3"
                     /db_xref="CCDS:CCDS7897.1"
                     /db_xref="GeneID:960"
                     /db_xref="HGNC:HGNC:1681"
                     /db_xref="MIM:107269"
                     /translation="MDKFWWHAAWGLCLVPLSLAQIDLNITCRFAGVFHVEKNGRYSIS
                     RTEAADLCKAFNSTLPTMAQMEKALSIGFETCRYGFIEGHVVIPRIHPNSICAANNTGV
                     YILTSNTSQYDTYCFNASAPPEEDCTSVTDLPNAFDGPITITIVNRDGTRYVQKGEYRT
                     NPEDIYPSNPTDDDVSSGSSSERSSTSGGYIFYTFSTVHPIPDEDSPWITDSTDRIPAT
                     TLMSTSATATETATKRQETWDWFSWLFLPSESKNHLHTTTQMAGTSSNTISAGWEPNEE
                     NEDERDRHLSFSGSGIDDDEDFISSTISTTPRAFDHTKQNQDWTQWNPSHSNPEVLLQT
                     TTRMTDVDRNGTTAYEGNWNPEAHPPLIHHEHHEEEETPHSTSTIQATPSSTTEETATQ
                     KEQWFGNRWHEGYRQTPKEDSHSTTGTAAASAHTSHPMQGRTTPSPEDSSWTDFFNPIS
                     HPMGRGHQAGRRMDMDSSHSITLQPTANPNTGLVEDLDRTGPLSMTTQQSNSQSFSTSH
                     EGLEEDKDHPTTSTLTSSNRNDVTGGRRDPNHSEGSTTLLEGYTSHYPHTKESRTFIPV
                     TSAKTGSFGVTAVTVGDSNSNVNRSLSGDQDTFHPSGGSHTTHGSESDGHSHGSQEGGA
                     NTTSGPIRTPQIPEWLIILASLLALALILAVCIAVNSRRRCGQKKKLVINSGNGAVEDR
                     KPSGLNGEASKSQEMVHLVNKESSETPDQFMTADETRNLQNVDMKIGV"
     sig_peptide     134..193
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     194..2359
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /product="CD44 antigen isoform 1"
     misc_feature    206..208
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16070.3); glycosylation site"
     misc_feature    302..304
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P16070.3); glycosylation site"
     misc_feature    431..433
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16070.3); glycosylation site"
     misc_feature    461..463
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P16070.3); glycosylation site"
     misc_feature    491..493
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16070.3); glycosylation site"
     misc_feature    611..700
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="propagated from UniProtKB/Swiss-Prot (P16070.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    671..673
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="O-linked (Xyl...) (chondroitin sulfate) serine.
                     /evidence=ECO:0000269|PubMed:25326458,
                     ECO:0000269|PubMed:32337544, ECO:0000269|PubMed:36213313;
                     propagated from UniProtKB/Swiss-Prot (P16070.3);
                     glycosylation site"
     misc_feature    803..2080
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="propagated from UniProtKB/Swiss-Prot (P16070.3);
                     Region: Stem"
     misc_feature    914..988
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="propagated from UniProtKB/Swiss-Prot (P16070.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1181..1183
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16070.3); glycosylation site"
     misc_feature    1247..1807
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="propagated from UniProtKB/Swiss-Prot (P16070.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1775..1777
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16070.3); glycosylation site"
     misc_feature    1901..2059
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="propagated from UniProtKB/Swiss-Prot (P16070.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1928..1930
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16070.3); glycosylation site"
     misc_feature    2039..2041
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16070.3); glycosylation site"
     misc_feature    2081..2143
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="propagated from UniProtKB/Swiss-Prot (P16070.3);
                     transmembrane region"
     misc_feature    2147..2149
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000269|PubMed:12032545; propagated from
                     UniProtKB/Swiss-Prot (P16070.3); phosphorylation site"
     misc_feature    2150..2206
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="propagated from UniProtKB/Swiss-Prot (P16070.3);
                     Region: Required for interaction with EZR, MSN and RDX and
                     for co-localization to microvilli.
                     /evidence=ECO:0000250|UniProtKB:P15379"
     misc_feature    2189..2191
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P16070.3);
                     phosphorylation site"
     misc_feature    2222..2224
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P15379; propagated from
                     UniProtKB/Swiss-Prot (P16070.3); phosphorylation site"
     misc_feature    2249..2251
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:9580567,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19367720, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P16070.3);
                     phosphorylation site"
     regulatory      3028..3033
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="hexamer: AATAAA"
     polyA_site      3056
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="major polyA site"
     regulatory      5395..5400
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="hexamer: ATTAAA"
     regulatory      5409..5414
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
                     /note="hexamer: ATTAAA"
     polyA_site      5422
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
     polyA_site      5431
                     /gene="CD44"
                     /gene_synonym="CDW44; CSPG8; ECM-III; ECMR-III; H-CAM;
                     HCELL; Hermes-1; HUTCH-1; HUTCH-I; IN; LHR; MC56; MDU2;
                     MDU3; MIC4; Pgp1"
ORIGIN
        1 ctcattgccc agcggacccc agcctctgcc aggttcggtc cgccatcctc gtcccgtcct
       61 ccgccggccc ctgccccgcg cccagggatc ctccagctcc tttcgcccgc gccctccgtt
      121 cgctccggac accatggaca agttttggtg gcacgcagcc tggggactct gcctcgtgcc
      181 gctgagcctg gcgcagatcg atttgaatat aacctgccgc tttgcaggtg tattccacgt
      241 ggagaaaaat ggtcgctaca gcatctctcg gacggaggcc gctgacctct gcaaggcttt
      301 caatagcacc ttgcccacaa tggcccagat ggagaaagct ctgagcatcg gatttgagac
      361 ctgcaggtat gggttcatag aagggcacgt ggtgattccc cggatccacc ccaactccat
      421 ctgtgcagca aacaacacag gggtgtacat cctcacatcc aacacctccc agtatgacac
      481 atattgcttc aatgcttcag ctccacctga agaagattgt acatcagtca cagacctgcc
      541 caatgccttt gatggaccaa ttaccataac tattgttaac cgtgatggca cccgctatgt
      601 ccagaaagga gaatacagaa cgaatcctga agacatctac cccagcaacc ctactgatga
      661 tgacgtgagc agcggctcct ccagtgaaag gagcagcact tcaggaggtt acatctttta
      721 caccttttct actgtacacc ccatcccaga cgaagacagt ccctggatca ccgacagcac
      781 agacagaatc cctgctacca ctttgatgag cactagtgct acagcaactg agacagcaac
      841 caagaggcaa gaaacctggg attggttttc atggttgttt ctaccatcag agtcaaagaa
      901 tcatcttcac acaacaacac aaatggctgg tacgtcttca aataccatct cagcaggctg
      961 ggagccaaat gaagaaaatg aagatgaaag agacagacac ctcagttttt ctggatcagg
     1021 cattgatgat gatgaagatt ttatctccag caccatttca accacaccac gggcttttga
     1081 ccacacaaaa cagaaccagg actggaccca gtggaaccca agccattcaa atccggaagt
     1141 gctacttcag acaaccacaa ggatgactga tgtagacaga aatggcacca ctgcttatga
     1201 aggaaactgg aacccagaag cacaccctcc cctcattcac catgagcatc atgaggaaga
     1261 agagacccca cattctacaa gcacaatcca ggcaactcct agtagtacaa cggaagaaac
     1321 agctacccag aaggaacagt ggtttggcaa cagatggcat gagggatatc gccaaacacc
     1381 caaagaagac tcccattcga caacagggac agctgcagcc tcagctcata ccagccatcc
     1441 aatgcaagga aggacaacac caagcccaga ggacagttcc tggactgatt tcttcaaccc
     1501 aatctcacac cccatgggac gaggtcatca agcaggaaga aggatggata tggactccag
     1561 tcatagtata acgcttcagc ctactgcaaa tccaaacaca ggtttggtgg aagatttgga
     1621 caggacagga cctctttcaa tgacaacgca gcagagtaat tctcagagct tctctacatc
     1681 acatgaaggc ttggaagaag ataaagacca tccaacaact tctactctga catcaagcaa
     1741 taggaatgat gtcacaggtg gaagaagaga cccaaatcat tctgaaggct caactacttt
     1801 actggaaggt tatacctctc attacccaca cacgaaggaa agcaggacct tcatcccagt
     1861 gacctcagct aagactgggt cctttggagt tactgcagtt actgttggag attccaactc
     1921 taatgtcaat cgttccttat caggagacca agacacattc caccccagtg gggggtccca
     1981 taccactcat ggatctgaat cagatggaca ctcacatggg agtcaagaag gtggagcaaa
     2041 cacaacctct ggtcctataa ggacacccca aattccagaa tggctgatca tcttggcatc
     2101 cctcttggcc ttggctttga ttcttgcagt ttgcattgca gtcaacagtc gaagaaggtg
     2161 tgggcagaag aaaaagctag tgatcaacag tggcaatgga gctgtggagg acagaaagcc
     2221 aagtggactc aacggagagg ccagcaagtc tcaggaaatg gtgcatttgg tgaacaagga
     2281 gtcgtcagaa actccagacc agtttatgac agctgatgag acaaggaacc tgcagaatgt
     2341 ggacatgaag attggggtgt aacacctaca ccattatctt ggaaagaaac aaccgttgga
     2401 aacataacca ttacagggag ctgggacact taacagatgc aatgtgctac tgattgtttc
     2461 attgcgaatc ttttttagca taaaattttc tactcttttt gttttttgtg ttttgttctt
     2521 taaagtcagg tccaatttgt aaaaacagca ttgctttctg aaattagggc ccaattaata
     2581 atcagcaaga atttgatcgt tccagttccc acttggaggc ctttcatccc tcgggtgtgc
     2641 tatggatggc ttctaacaaa aactacacat atgtattcct gatcgccaac ctttccccca
     2701 ccagctaagg acatttccca gggttaatag ggcctggtcc ctgggaggaa atttgaatgg
     2761 gtccattttg cccttccata gcctaatccc tgggcattgc tttccactga ggttgggggt
     2821 tggggtgtac tagttacaca tcttcaacag accccctcta gaaatttttc agatgcttct
     2881 gggagacacc caaagggtga agctatttat ctgtagtaaa ctatttatct gtgtttttga
     2941 aatattaaac cctggatcag tcctttgatc agtataattt tttaaagtta ctttgtcaga
     3001 ggcacaaaag ggtttaaact gattcataat aaatatctgt acttcttcga tcttcacctt
     3061 ttgtgctgtg attcttcagt ttctaaacca gcactgtctg ggtccctaca atgtatcagg
     3121 aagagctgag aatggtaagg agactcttct aagtcttcat ctcagagacc ctgagttccc
     3181 actcagaccc actcagccaa atctcatgga agaccaagga gggcagcact gtttttgttt
     3241 tttgtttttt gttttttttt tttgacactg tccaaaggtt ttccatcctg tcctggaatc
     3301 agagttggaa gctgaggagc ttcagcctct tttatggttt aatggccacc tgttctctcc
     3361 tgtgaaaggc tttgcaaagt cacattaagt ttgcatgacc tgttatccct ggggccctat
     3421 ttcatagagg ctggccctat tagtgatttc caaaaacaat atggaagtgc cttttgatgt
     3481 cttacaataa gagaagaagc caatggaaat gaaagagatt ggcaaagggg aaggatgatg
     3541 ccatgtagat cctgtttgac atttttatgg ctgtatttgt aaacttaaac acaccagtgt
     3601 ctgttcttga tgcagttgct atttaggatg agttaagtgc ctggggagtc cctcaaaagg
     3661 ttaaagggat tcccatcatt ggaatcttat caccagatag gcaagtttat gaccaaacaa
     3721 gagagtactg gctttatcct ctaacctcat attttctccc acttggcaag tcctttgtgg
     3781 catttattca tcagtcaggg tgtccgattg gtcctagaac ttccaaaggc tgcttgtcat
     3841 agaagccatt gcatctataa agcaacggct cctgttaaat ggtatctcct ttctgaggct
     3901 cctactaaaa gtcatttgtt acctaaactt atgtgcttaa caggcaatgc ttctcagacc
     3961 acaaagcaga aagaagaaga aaagctcctg actaaatcag ggctgggctt agacagagtt
     4021 gatctgtaga atatctttaa aggagagatg tcaactttct gcactattcc cagcctctgc
     4081 tcctccctgt ctaccctctc ccctccctct ctccctccac ttcaccccac aatcttgaaa
     4141 aacttccttt ctcttctgtg aacatcattg gccagatcca ttttcagtgg tctggatttc
     4201 tttttatttt cttttcaact tgaaagaaac tggacattag gccactatgt gttgttactg
     4261 ccactagtgt tcaagtgcct cttgttttcc cagagatttc ctgggtctgc cagaggccca
     4321 gacaggctca ctcaagctct ttaactgaaa agcaacaagc cactccagga caaggttcaa
     4381 aatggttaca acagcctcta cctgtcgccc cagggagaaa ggggtagtga tacaagtctc
     4441 atagccagag atggttttcc actccttcta gatattccca aaaagaggct gagacaggag
     4501 gttattttca attttatttt ggaattaaat acttttttcc ctttattact gttgtagtcc
     4561 ctcacttgga tatacctctg ttttcacgat agaaataagg gaggtctaga gcttctattc
     4621 cttggccatt gtcaacggag agctggccaa gtcttcacaa acccttgcaa cattgcctga
     4681 agtttatgga ataagatgta ttctcactcc cttgatctca agggcgtaac tctggaagca
     4741 cagcttgact acacgtcatt tttaccaatg attttcaggt gacctgggct aagtcattta
     4801 aactgggtct ttataaaagt aaaaggccaa catttaatta ttttgcaaag caacctaaga
     4861 gctaaagatg taatttttct tgcaattgta aatcttttgt gtctcctgaa gacttccctt
     4921 aaaattagct ctgagtgaaa aatcaaaaga gacaaaagac atcttcgaat ccatatttca
     4981 agcctggtag aattggcttt tctagcagaa cctttccaaa agttttatat tgagattcat
     5041 aacaacacca agaattgatt ttgtagccaa cattcattca atactgttat atcagaggag
     5101 taggagagag gaaacatttg acttatctgg aaaagcaaaa tgtacttaag aataagaata
     5161 acatggtcca ttcaccttta tgttatagat atgtctttgt gtaaatcatt tgttttgagt
     5221 tttcaaagaa tagcccattg ttcattcttg tgctgtacaa tgaccactgt tattgttact
     5281 ttgacttttc agagcacacc cttcctctgg tttttgtata tttattgatg gatcaataat
     5341 aatgaggaaa gcatgatatg tatattgctg agttgaaagc acttattgga aaatattaaa
     5401 aggctaacat taaaagacta aaggaaacag a
//
LOCUS       NM_000611               7563 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens CD59 molecule (CD59 blood group) (CD59), transcript
            variant 2, mRNA.
ACCESSION   NM_000611
VERSION     NM_000611.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7563)
  AUTHORS   Tang J, Zhao Z, Zhou J, Jiao L, Zhou W, Ying B and Yang Y.
  TITLE     Multiple CD59 Polymorphisms in Chinese Patients with Mycobacterium
            tuberculosis Infection
  JOURNAL   J Immunol Res 2023, 1216048 (2023)
   PUBMED   37050931
  REMARK    GeneRIF: Multiple CD59 Polymorphisms in Chinese Patients with
            Mycobacterium tuberculosis Infection. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 7563)
  AUTHORS   Sun J, Cao H, Wen T, Xu Z, Zhang X, Wang J and Zhu H.
  TITLE     The bioinformatics analysis of CD59 in Helicobacter pylori infected
            gastric cancer
  JOURNAL   Cancer Biomark 38 (1), 27-35 (2023)
   PUBMED   37522198
  REMARK    GeneRIF: The bioinformatics analysis of CD59 in Helicobacter pylori
            infected gastric cancer.
REFERENCE   3  (bases 1 to 7563)
  AUTHORS   Iwasa K, Furukawa Y, Yoshikawa H, Yamada M and Ono K.
  TITLE     CD59 Expression in Skeletal Muscles and Its Role in Myasthenia
            Gravis
  JOURNAL   Neurol Neuroimmunol Neuroinflamm 10 (1), e200057 (2022)
   PUBMED   36396448
  REMARK    GeneRIF: CD59 Expression in Skeletal Muscles and Its Role in
            Myasthenia Gravis. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 7563)
  AUTHORS   Bogdanet D, Toth Castillo M, Doheny H, Dervan L, Angel
            Luque-Fernandez M, Halperin J, O'Shea PM and Dunne FP.
  TITLE     The utility of first trimester plasma glycated CD59 (pGCD59) in
            predicting gestational diabetes mellitus: A prospective study of
            non-diabetic pregnant women in Ireland
  JOURNAL   Diabetes Res Clin Pract 190, 110023 (2022)
   PUBMED   35907507
  REMARK    GeneRIF: The utility of first trimester plasma glycated CD59
            (pGCD59) in predicting gestational diabetes mellitus: A prospective
            study of non-diabetic pregnant women in Ireland.
REFERENCE   5  (bases 1 to 7563)
  AUTHORS   Golec E, Ekstrom A, Noga M, Omar-Hmeadi M, Lund PE, Villoutreix BO,
            Krus U, Wozniak K, Korsgren O, Renstrom E, Barg S, King BC and Blom
            AM.
  TITLE     Alternative splicing encodes functional intracellular CD59 isoforms
            that mediate insulin secretion and are down-regulated in diabetic
            islets
  JOURNAL   Proc Natl Acad Sci U S A 119 (24), e2120083119 (2022)
   PUBMED   35666870
  REMARK    GeneRIF: Alternative splicing encodes functional intracellular CD59
            isoforms that mediate insulin secretion and are down-regulated in
            diabetic islets.
REFERENCE   6  (bases 1 to 7563)
  AUTHORS   Petranka JG, Fleenor DE, Sykes K, Kaufman RE and Rosse WF.
  TITLE     Structure of the CD59-encoding gene: further evidence of a
            relationship to murine lymphocyte antigen Ly-6 protein
  JOURNAL   Proc Natl Acad Sci U S A 89 (17), 7876-7879 (1992)
   PUBMED   1381503
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1993 Jun 15;90(12):5878]
REFERENCE   7  (bases 1 to 7563)
  AUTHORS   Ninomiya H and Sims PJ.
  TITLE     The human complement regulatory protein CD59 binds to the
            alpha-chain of C8 and to the 'b'domain of C9
  JOURNAL   J Biol Chem 267 (19), 13675-13680 (1992)
   PUBMED   1377690
REFERENCE   8  (bases 1 to 7563)
  AUTHORS   Hahn WC, Menu E, Bothwell AL, Sims PJ and Bierer BE.
  TITLE     Overlapping but nonidentical binding sites on CD2 for CD58 and a
            second ligand CD59
  JOURNAL   Science 256 (5065), 1805-1807 (1992)
   PUBMED   1377404
REFERENCE   9  (bases 1 to 7563)
  AUTHORS   Holmes CH, Simpson KL, Okada H, Okada N, Wainwright SD, Purcell DF
            and Houlihan JM.
  TITLE     Complement regulatory proteins at the feto-maternal interface during
            human placental development: distribution of CD59 by comparison with
            membrane cofactor protein (CD46) and decay accelerating factor
            (CD55)
  JOURNAL   Eur J Immunol 22 (6), 1579-1585 (1992)
   PUBMED   1376264
REFERENCE   10  (bases 1 to 7563)
  AUTHORS   Tandon N, Morgan BP and Weetman AP.
  TITLE     Expression and function of membrane attack complex inhibitory
            proteins on thyroid follicular cells
  JOURNAL   Immunology 75 (2), 372-377 (1992)
   PUBMED   1372592
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.350787.1,
            SRR11853563.5106.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000642928.2/ ENSP00000494884.1
            RefSeq Select criteria :: based on manual assertion, expression,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU136899.1, BC001506.2,
            AL049629.28 and BM680161.1.
            On Sep 30, 2019 this sequence version replaced NM_000611.5.
            Summary: This gene encodes a cell surface glycoprotein that
            regulates complement-mediated cell lysis, and it is involved in
            lymphocyte signal transduction. This protein is a potent inhibitor
            of the complement membrane attack complex, whereby it binds
            complement C8 and/or C9 during the assembly of this complex,
            thereby inhibiting the incorporation of multiple copies of C9 into
            the complex, which is necessary for osmolytic pore formation. This
            protein also plays a role in signal transduction pathways in the
            activation of T cells. Mutations in this gene cause CD59
            deficiency, a disease resulting in hemolytic anemia and thrombosis,
            and which causes cerebral infarction. Multiple alternatively
            spliced transcript variants, which encode the same protein, have
            been identified for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. All variants (1-8) encode the same protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7563
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..7563
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /note="CD59 molecule (CD59 blood group)"
                     /db_xref="GeneID:966"
                     /db_xref="HGNC:HGNC:1689"
                     /db_xref="MIM:107271"
     CDS             61..447
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /note="CD59 antigen p18-20 (antigen identified by
                     monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344);
                     protectin; human leukocyte antigen MIC11; CD59 molecule,
                     complement regulatory protein; surface anitgen recognized
                     by monoclonal antibody 16.3A5; lymphocytic antigen
                     CD59/MEM43; T cell-activating protein; Ly-6-like protein;
                     CD59 glycoprotein; membrane inhibitor of reactive lysis; 20
                     kDa homologous restriction factor; membrane attack complex
                     (MAC) inhibition factor; CD59 blood group antigen; 1F5
                     antigen; MEM43 antigen; membrane attack complex inhibition
                     factor"
                     /codon_start=1
                     /product="CD59 glycoprotein preproprotein"
                     /protein_id="NP_000602.1"
                     /db_xref="CCDS:CCDS7886.1"
                     /db_xref="GeneID:966"
                     /db_xref="HGNC:HGNC:1689"
                     /db_xref="MIM:107271"
                     /translation="MGIQGGSVLFGLLLVLAVFCHSGHSLQCYNCPNPTADCKTAVNCS
                     SDFDACLITKAGLQVYNKCWKFEHCNFNDVTTRLRENELTYYCCKKDLCNFNEQLENGG
                     TSLSEKTVLLLVTPFLAAAWSLHP"
     sig_peptide     61..135
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     proprotein      136..444
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /product="CD59 glycoprotein proprotein"
     mat_peptide     136..366
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /product="CD59 glycoprotein. /id=PRO_0000036108"
                     /note="propagated from UniProtKB/Swiss-Prot (P13987.1)"
     misc_feature    136..351
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /note="Ly-6 antigen / uPA receptor -like domain; occurs
                     singly in GPI-linked cell-surface glycoproteins (Ly6
                     family, CD59, thymocyte B cell antigen, Sgp-2) or as
                     three-fold repeated domain in urokinase-type plasminogen
                     activator receptor. Topology of these domains is similar to
                     that of snake venom neurotoxins; cd00117; Region: LU"
     misc_feature    187..189
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:18780401,
                     ECO:0000269|PubMed:8670172; propagated from
                     UniProtKB/Swiss-Prot (P13987.1); glycosylation site"
     misc_feature    256..258
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /note="N-linked (Glc) (glycation) lysine.
                     /evidence=ECO:0000269|PubMed:10805801; propagated from
                     UniProtKB/Swiss-Prot (P13987.1); glycosylation site"
     misc_feature    286..288
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P13987.1); glycosylation site"
     misc_feature    289..291
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P13987.1); glycosylation site"
     regulatory      558..563
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /note="hexamer: AATAAA"
     polyA_site      577
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /note="major polyA site"
     polyA_site      1138
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /note="major polyA site"
     regulatory      1687..1692
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /note="hexamer: ATTATA"
     polyA_site      1710
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /note="major polyA site"
     regulatory      1871..1876
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /note="hexamer: AATAGA"
     polyA_site      1896
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
     regulatory      5268..5273
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /note="hexamer: AATAAA"
     polyA_site      5290
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /note="major polyA site"
     regulatory      7534..7539
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
                     /note="hexamer: AATATA"
     polyA_site      7563
                     /gene="CD59"
                     /gene_synonym="16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20;
                     HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL;
                     MSK21; p18-20"
ORIGIN
        1 agaagcggct cgaggctgga agaggatctt gggcgccgcc aggttctgtg gacaatcaca
       61 atgggaatcc aaggagggtc tgtcctgttc gggctgctgc tcgtcctggc tgtcttctgc
      121 cattcaggtc atagcctgca gtgctacaac tgtcctaacc caactgctga ctgcaaaaca
      181 gccgtcaatt gttcatctga ttttgatgcg tgtctcatta ccaaagctgg gttacaagtg
      241 tataacaagt gttggaagtt tgagcattgc aatttcaacg acgtcacaac ccgcttgagg
      301 gaaaatgagc taacgtacta ctgctgcaag aaggacctgt gtaactttaa cgaacagctt
      361 gaaaatggtg ggacatcctt atcagagaaa acagttcttc tgctggtgac tccatttctg
      421 gcagcagcct ggagccttca tccctaagtc aacaccagga gagcttctcc caaactcccc
      481 gttcctgcgt agtccgcttt ctcttgctgc cacattctaa aggcttgata ttttccaaat
      541 ggatcctgtt gggaaagaat aaaattagct tgagcaacct ggctaagata gaggggctct
      601 gggagacttt gaagaccagt cctgtttgca gggaagcccc acttgaagga agaagtctaa
      661 gagtgaagta ggtgtgactt gaactagatt gcatgcttcc tcctttgctc ttgggaagac
      721 cagctttgca gtgacagctt gagtgggttc tctgcagccc tcagattatt tttcctctgg
      781 ctccttggat gtagtcagtt agcatcatta gtacatcttt ggagggtggg gcaggagtat
      841 atgagcatcc tctctcacat ggaacgcttt cataaacttc agggatcccg tgttgccatg
      901 gaggcatgcc aaatgttcca tatgtgggtg tcagtcaggg acaacaagat ccttaatgca
      961 gagctagagg acttctggca gggaagtggg gaagtgttcc agatagcagg gcatgaaaac
     1021 ttagagaggt acaagtggct gaaaatcgag tttttcctct gtctttaaat tttatatggg
     1081 ctttgttatc ttccactgga aaagtgtaat agcatacatc aatggtgtgt taaagctatt
     1141 tccttgcctt ttttttattg gaatggtagg atatcttggc tttgccacac acagttacag
     1201 agtgaacact ctactacatg tgactggcag tattaagtgt gcttatttta aatgttactg
     1261 gtagaaaggc agttcaggta tgtgtgtata tagtatgaat gcagtgggga caccctttgt
     1321 ggttacagtt tgagacttcc aaaggtcatc cttaataaca acagatctgc aggggtatgt
     1381 tttaccatct gcatccagcc tcctgctaac tcctagctga ctcagcatag attgtataaa
     1441 atacctttgt aacggctctt agcacactca cagatgtttg aggctttcag aagctcttct
     1501 aaaaaatgat acacaccttt cacaagggca aactttttcc ttttccctgt gtattctagt
     1561 gaatgaatct caagattcag tagacctaat gacatttgta ttttatgatc ttggctgtat
     1621 ttaatggcat aggctgactt ttgcagatgg aggaatttct tgattaatgt tgaaaaaaaa
     1681 cccttgatta tactctgttg gacaaaccga gtgcaatgaa tgatgctttt ctgaaaatga
     1741 aatataacaa gtgggtgaat gtggttatgg ccgaaaagga tatgcagtat gcttaatggt
     1801 agcaactgaa agaagacatc ctgagcagtg ccagctttct tctgttgatg ccgttccctg
     1861 aacataggaa aatagaaact tgcttatcaa aacttagcat taccttggtg ctctgtgttc
     1921 tctgttagct cagtgtcttt ccttacatca ataggttttt tttttttttt ttggcctgag
     1981 gaagtactga ccatgcccac agccaccggc tgagcaaaga agctcatttc atgtgagttc
     2041 taaggaatga gaaacaattt tgatgaattt aagcagaaaa tgaatttctg ggaacttttt
     2101 tgggggcggg ggggtgggga attcagccac actccagaaa gccaggagtc gacagttttg
     2161 gaagcctctc tcaggattga gattctagga tgagattggc ttactgctat cttgtgtcat
     2221 gtacccactt tttggccaga ctacactggg aagaaggtag tcctctaaag caaaatctga
     2281 gtgccactaa atggggagat ggggctgtta agctgtccaa atcaacaagg gtcatataaa
     2341 tggccttaaa ctttggggtt gctttctgca aaaagttgct gtgactcatg ccatagacaa
     2401 ggttgagtgc ctggacccaa aggcaatact gtaatgtaaa gacatttata gtactaggca
     2461 aacagcaccc caggtactcc aggccctcct ggctggagag ggctgtggca atagaaaatt
     2521 agtgccaact gcagtgagtc agcctaggtt aaatagagag tgtaagagtg ctggacagga
     2581 acctccaccc tcatgtcaca tttcttcaat gtgacccttc tggcccctct cctcctgaca
     2641 gcggaacaat gactgccccg ataggtgagg ctggaggaag aatcagtcct gtccttggca
     2701 agctcttcac tatgacagta aaggctctct gcctgctgcc aaggcctgtg actttctaac
     2761 ctggcctcac gctgggtaag cttaaggtag aggtgcagga ttagcaagcc cacctggcta
     2821 ccaggccgac agctacatcc tccaactgac cctgatcaac gaagagggat tcatgtgtct
     2881 gtctcagttg gttccaaatg aaaccaggga gcaggggagt taggaatcga acaccagtca
     2941 tgcctactgg ctctctgctc gagagccaat accctgtgcc ctccactcat ctggatttac
     3001 aggaactgtc atagtgttca gtattgggtg gtgataagcc cattggattg tccccttggg
     3061 gggatgagct aggggtgcaa ggaacacctg atgagtagat aagtggagct catggtattt
     3121 cctgaaagat gctaatctat ttgccaaact tggtcttgaa tgtactgggg gcttcaaggt
     3181 atgggtatat ttttcttgtg tccttgcagt tagcccccat gtcttatgtg tgtcctgaaa
     3241 aaataagagc ctgcccaaga ctttgggcct cttgacagaa ttaaccactt ttatacatct
     3301 gagttctctt ggtaagttct ttagcagtgt tcaaagtcta ctagctcgca ttagtttctg
     3361 ttgctgccaa cagatctgaa ctaatgctaa cagatccccc tgagggattc ttgatgggct
     3421 gagcagctgg ctggagctag tactgactga cattcattgt gatgagggca gctttctggt
     3481 acaggattct aagctctatg ttttatatac attttcatct gtacttgcac ctcactttac
     3541 acaagaggaa actatgcaaa gttagctgga tcgctcaagg tcacttaggt aagttggcaa
     3601 gtccatgctt cccactcagc tcctcaggtc agcaagtcta cttctctgcc tattttgtat
     3661 actctcttta atatgtgcct agctttggaa agtctagaat gggtccctgg tgccttttta
     3721 ctttgaagaa atcagtttct gcctcttttt ggaaaagaaa acaaagtgca attgtttttt
     3781 actggaaagt tacccaatag catgaggtga acaggacgta gttaggcctt cctgtaaaca
     3841 gaaaatcata tcaaaacact atcttcccat ctgtttctca atgcctgcta cttcttgtag
     3901 atatttcatt tcaggagagc agcagttaaa cccgtggatt ttgtagttag gaacctgggt
     3961 tcaaaccctc ttccactaat tggctatgtc tctggacaag tttttttttt tttttttttt
     4021 taaacccttt ctgaactttc actttctatg tctacctcaa agaattgttg tgaggcttga
     4081 gataatgcat ttgtaaaggg tctgccagat aggaagatgc tagttatgga tttacaaggt
     4141 tgttaaggct gtaagagtct aaaacctaca gtgaatcaca atgcatttac ccccactgac
     4201 ttggacataa gtgaaaacta gccagaagtc tctttttcaa attacttaca ggttattcaa
     4261 tataaaattt ttgtaatgga taatcttatt tatctaaact aaagcttcct gtttatacac
     4321 actcctgtta ttctgggata agataaatga ccacagtacc ttaatttcta ggtgggtgcc
     4381 tgtgatggtt cattgtaggt aaggacattt tctctttttc agcagctgtg taggtccaga
     4441 gcctctggga gaggaggggg gtagcatgca cccagcaggg gactgaactg ggaaactcaa
     4501 ggttcttttt actgtggggt agtgagctgc ctttctgtga tcggtttccc tagggatgtt
     4561 gctgttcccc tccttgctat tcgcagctac atacaacgtg gccaacccca gtaggctgat
     4621 cctatatatg atcagtgctg gtgctgactc tcaatagccc cacccaagct ggctataggt
     4681 ttacagatac attaattagg caacctaaaa tattgatgct ggtgttggtg tgacataatg
     4741 ctatggccag aactgaaact tagagttata attcatgtat tagggttctc cagagggaca
     4801 gaattagtag gatatatgta tatatgaaag ggaggttatt agggagaact ggctcccaca
     4861 gttagaaggc gaagtcgcac aataggccgt ctgcaagctg ggttagagag aagccagtag
     4921 tggctcagcc tgagttcaaa aacctcaaaa ctggggaagc tgacagtgca gccagccttc
     4981 agtctgtggc caaaggccca agagcccctg gcaaccaacc cactggtgca agtcctagat
     5041 tccaaaggct gaagaacctg gagtctgatg tccaagagca ggaagagtgg aagaaagcca
     5101 gaagactcag caaacaaggt agacagtgtc taccaccata gtggccatac caaagaggct
     5161 accgattcct tcctgctacc tggatccctg aagttgccct ggtctctgca ccttctaaac
     5221 ctagttctta agagctttcc attacatgag ctgtctcaaa gccctccaat aaattctcag
     5281 tgtaagcttc tgttgcttgt ggacagaaaa ttctgacaga cctaccctat aagtgttact
     5341 gtcaggataa catgagaacg cacaacagta agtggtcact aagtgttagc tacggttatt
     5401 ttgcccaagg tagcatggct agttgatgcc ggttgatggg gcttaaaccc agctccctca
     5461 tcttccaggc ctctgtactc cctattccac taaactacct ctcaggttta tttttttaaa
     5521 ttcttactct gcaagtacat aggaccacat ttacctggga aaacaagaat aaaggctgct
     5581 ctgcattttt tagaaacttt tttgaaaggg agatgggaat gcctgcaccc ccaagtccag
     5641 accaacacaa tggttaattg agatgaataa taaaggaaag actgttctgg gcttcccaga
     5701 atagcttggt ccttaaattg tggcacaaac aacctcctgt cagagccagc ctcctgccag
     5761 gaagaggggt aggagactag aggccgtgtg tgcagccttg ccctgaaggc tagggtgaca
     5821 atttggaggc tgtccaaaca ccctggcctc tagagctggc ctgtctattt gaaatgccgg
     5881 ctctgatgct aatcggcgac cctcaggcaa gttacttaac cttacatgcc tcagttttct
     5941 catctggaaa atgagaaccc taggtttagg gttgttagaa aagttaaatg agttaagaca
     6001 agtgcctggg acacagtagc ctcttgtgtg tgtttatcat tatgtcctca gcaggtcgta
     6061 gaagcagctt ctcaggtgtg aggctggcgc gattatctgg agtgggttgg gttttctagg
     6121 atggaccccc tgctgcattt tcctcattca tccaccaggg cttaatgggg aatcaaggaa
     6181 tccatgtgta actgtataat aactgtagcc acactccaat gaccacctac tagttgtccc
     6241 tggcactgct tatacatatg tccatcaaat caatcctatg aagtagatac tgtcttcatt
     6301 ttatagatca gagacaattg gggttcagag agctgatgtg attttcccag ggtcacagag
     6361 agtcccagat tcaggcacaa ctcttgtatt ccaagacaca accactacat gtccaaaggc
     6421 tgcccagagc caccgggcac ggcaaattgt gacatatccc taaagaggct gagcacctgg
     6481 tcaggatctg atggctgaca gtgtgtccag atgcagagct ggagtggggg aggggaaggg
     6541 gggctccttg ggacagagaa ggctttctgt gctttctctg aagggagcag tctgaggacc
     6601 aagggaaccc ggcaaacagc acctcaggta ctccaggccc tcctggctgg agagggctgt
     6661 ggcaatggaa aattagtgcc aactgcaatg agtcagcctc ggttaaatag agagtgaaga
     6721 atgctggaca ggaacctcca ccctcatgtc acatttcttc agtgtgaccc ttctggcccc
     6781 tctcctcctg acagcggaac aatgactgcc ccgataggtg aggctggagg aagaatcagt
     6841 cctgtccttg gcaagctctt cactatgaca gtaaaggctc tctgcctgct gccaaggcct
     6901 gtgactttct aacctggcct cacgctgggt aagcttaagg tagaggtgca ggattagcaa
     6961 gcccacctgg ctaccaggcc gacagctaca tctttcaact gaccctgatc aacgaagagg
     7021 gacttgtgtc tctcagttgg ttccaaatga aaccagggag caggggcgtt aggaagctcc
     7081 aacaggatgg tacttaatgg ggcatttgag tggagaggta ggtgacatag tgctttggag
     7141 cccagggagg gaaaggttct gctgaagttg aattcaagac tgttctttca tcacaaactt
     7201 gagtttcctg gacatttgtt tgcagaaaca accgtagggt tttgccttaa cctcgtgggt
     7261 ttattattac ctcataggga ctttgcctcc tgacagcagt ttatgggtgt tcattgtggc
     7321 acttgagttt tcttgcatac ttgttagaga aaccaagttt gtcatcaact tcttatttaa
     7381 ccccctggct ataacttcat ggattatgtt ataattaagc catccagagt aaaatctgtt
     7441 tagattatct tggagtaagg gggaaaaaat ctgtaatttt ttctcctcaa ctagatatat
     7501 acataaaaaa tgattgtatt gcttcattta aaaaatataa cgcaaaatct cttttccttc
     7561 taa
//
LOCUS       NM_000612               5580 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens insulin like growth factor 2 (IGF2), transcript variant
            1, mRNA.
ACCESSION   NM_000612
VERSION     NM_000612.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5580)
  AUTHORS   Waldrep KM, Rodgers JI, Garrett SM, Wolf BJ and Feghali-Bostwick CA.
  TITLE     The Role of SOX9 in IGF-II-Mediated Pulmonary Fibrosis
  JOURNAL   Int J Mol Sci 24 (14), 11234 (2023)
   PUBMED   37510994
  REMARK    GeneRIF: The Role of SOX9 in IGF-II-Mediated Pulmonary Fibrosis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5580)
  AUTHORS   Alberini CM.
  TITLE     IGF2 in memory, neurodevelopmental disorders, and neurodegenerative
            diseases
  JOURNAL   Trends Neurosci 46 (6), 488-502 (2023)
   PUBMED   37031050
  REMARK    GeneRIF: IGF2 in memory, neurodevelopmental disorders, and
            neurodegenerative diseases. Review article
REFERENCE   3  (bases 1 to 5580)
  AUTHORS   Lohia S, Latosinska A, Zoidakis J, Makridakis M, Mischak H, Glorieux
            G, Vlahou A and Jankowski V.
  TITLE     Glycosylation Analysis of Urinary Peptidome Highlights IGF2
            Glycopeptides in Association with CKD
  JOURNAL   Int J Mol Sci 24 (6), 5402 (2023)
   PUBMED   36982475
  REMARK    GeneRIF: Glycosylation Analysis of Urinary Peptidome Highlights IGF2
            Glycopeptides in Association with CKD. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 5580)
  AUTHORS   Rainier S, Johnson LA, Dobry CJ, Ping AJ, Grundy PE and Feinberg AP.
  TITLE     Relaxation of imprinted genes in human cancer
  JOURNAL   Nature 362 (6422), 747-749 (1993)
   PUBMED   8385745
  REMARK    GeneRIF: IGF2 gene is imprinted, with expression from only the
            paternal allele.
REFERENCE   5  (bases 1 to 5580)
  AUTHORS   Shuman,C., Kalish,J.M. and Weksberg,R.
  TITLE     Beckwith-Wiedemann Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301568
REFERENCE   6  (bases 1 to 5580)
  AUTHORS   Saal,H.M., Harbison,M.D. and Netchine,I.
  TITLE     Silver-Russell Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301499
REFERENCE   7  (bases 1 to 5580)
  AUTHORS   Turner,J.T., Brzezinski,J. and Dome,J.S.
  TITLE     Wilms Tumor Predisposition
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301471
REFERENCE   8  (bases 1 to 5580)
  AUTHORS   Daimon M, Johnson TR, Ilan J and Ilan J.
  TITLE     The third IGF-II promoter specifies transcription of three
            transcripts out of five in human placenta
  JOURNAL   Mol Reprod Dev 33 (4), 413-417 (1992)
   PUBMED   1282023
REFERENCE   9  (bases 1 to 5580)
  AUTHORS   Sussenbach JS, Steenbergh PH and Holthuizen P.
  TITLE     Structure and expression of the human insulin-like growth factor
            genes
  JOURNAL   Growth Regul 2 (1), 1-9 (1992)
   PUBMED   1486331
  REMARK    Review article
REFERENCE   10  (bases 1 to 5580)
  AUTHORS   Rinderknecht,E. and Humbel,R.E.
  TITLE     Primary structure of human insulin-like growth factor II
  JOURNAL   FEBS Lett 89 (2), 283-286 (1978)
   PUBMED   658418
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.895793.1,
            SRR14038192.1386562.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2149398,
            SAMEA2153307 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            imprinted gene              :: PMID: 8385745
            MANE Ensembl match          :: ENST00000416167.7/ ENSP00000414497.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC132217.15, BC053318.1,
            M17426.1, AK025719.1, BC073756.1 and BQ014465.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000612.5.
            Summary: This gene encodes a member of the insulin family of
            polypeptide growth factors, which are involved in development and
            growth. It is an imprinted gene, expressed only from the paternal
            allele, and epigenetic changes at this locus are associated with
            Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and
            Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose
            5' region overlaps the INS gene and the 3' region overlaps this
            gene. Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Oct
            2010].
            Transcript Variant: This variant (1) represents the most
            predominant transcript. Variants 1, 2, 4 and 5 encode the same
            isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5580
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..5580
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="insulin like growth factor 2"
                     /db_xref="GeneID:3481"
                     /db_xref="HGNC:HGNC:5466"
                     /db_xref="MIM:147470"
     misc_feature    889..891
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="upstream in-frame stop codon"
     CDS             1168..1710
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; insulin-like growth factor type 2; insulin-like
                     growth factor 2 (somatomedin A); T3M-11-derived growth
                     factor; preptin"
                     /codon_start=1
                     /product="insulin-like growth factor II isoform 1
                     preproprotein"
                     /protein_id="NP_000603.1"
                     /db_xref="CCDS:CCDS7728.1"
                     /db_xref="GeneID:3481"
                     /db_xref="HGNC:HGNC:5466"
                     /db_xref="MIM:147470"
                     /translation="MGIPMGKSMLVLLTFLAFASCCIAAYRPSETLCGGELVDTLQFVC
                     GDRGFYFSRPASRVSRRSRGIVEECCFRSCDLALLETYCATPAKSERDVSTPPTVLPDN
                     FPRYPVGKFFQYDTWKQSTQRLRRGLPALLRARRGHVLAKELEAFREAKRHRPLIALPT
                     QDPAHGGAPPEMASNRK"
     sig_peptide     1168..1239
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     proprotein      1240..1707
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /product="insulin-like growth factor II isoform 1
                     proprotein"
     mat_peptide     1240..1440
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /product="Insulin-like growth factor II.
                     /id=PRO_0000015717"
                     /note="propagated from UniProtKB/Swiss-Prot (P01344.1)"
     misc_feature    1240..1323
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="propagated from UniProtKB/Swiss-Prot (P01344.1);
                     Region: B"
     mat_peptide     1243..1440
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /product="Insulin-like growth factor II Ala-25 Del.
                     /id=PRO_0000015718"
                     /note="propagated from UniProtKB/Swiss-Prot (P01344.1)"
     misc_feature    1309..1311
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="Important for interaction with integrin.
                     /evidence=ECO:0000269|PubMed:28873464; propagated from
                     UniProtKB/Swiss-Prot (P01344.1); other site"
     misc_feature    1324..1359
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="propagated from UniProtKB/Swiss-Prot (P01344.1);
                     Region: C"
     misc_feature    1339..1341
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="Important for interaction with integrin.
                     /evidence=ECO:0000269|PubMed:28873464; propagated from
                     UniProtKB/Swiss-Prot (P01344.1); other site"
     misc_feature    1348..1350
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="Important for interaction with integrin.
                     /evidence=ECO:0000269|PubMed:28873464; propagated from
                     UniProtKB/Swiss-Prot (P01344.1); other site"
     misc_feature    1351..1353
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="Important for interaction with integrin.
                     /evidence=ECO:0000269|PubMed:28873464; propagated from
                     UniProtKB/Swiss-Prot (P01344.1); other site"
     misc_feature    1360..1422
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="propagated from UniProtKB/Swiss-Prot (P01344.1);
                     Region: A"
     misc_feature    1423..1440
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="propagated from UniProtKB/Swiss-Prot (P01344.1);
                     Region: D"
     mat_peptide     1441..1707
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /product="E peptide"
     mat_peptide     1444..1545
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /product="Preptin. /id=PRO_0000370376"
                     /note="propagated from UniProtKB/Swiss-Prot (P01344.1)"
     misc_feature    1453..1455
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:22171320,
                     ECO:0000269|PubMed:23234360; propagated from
                     UniProtKB/Swiss-Prot (P01344.1); glycosylation site"
     misc_feature    1462..1464
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:1569071,
                     ECO:0000269|PubMed:22171320; propagated from
                     UniProtKB/Swiss-Prot (P01344.1); glycosylation site"
     misc_feature    1648..1707
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="propagated from UniProtKB/Swiss-Prot (P01344.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1654..1656
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:19838169,
                     ECO:0000269|PubMed:22171320; propagated from
                     UniProtKB/Swiss-Prot (P01344.1); glycosylation site"
     regulatory      5559..5564
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="hexamer: AATAAA"
     polyA_site      5580
                     /gene="IGF2"
                     /gene_synonym="C11orf43; GRDF; IGF-II; PP9974; SRS3"
                     /note="major polyA site"
ORIGIN
        1 gcctgctctc cggcggagct gcgtgaggcc cggccggccc cggccccccc cttccggccg
       61 cccccgcctc ctggcccacg cctgcccgcg ctctgcccac cagcgcctcc atcgggcaag
      121 gcggccccgc gtcgacgccg cccgctgcct cgctgctgac tcccgtcccg ggcgccgtcc
      181 gcggggtcgc gctccgccgg gcctgcggat tccccgccgc ctcctcttca tctacctcaa
      241 ctccccccat ccccgcttcg cccgaggagg cggttccccc cgcaggcagt ccggctcgca
      301 ggccgccggc gttgtcaccc ccccccgcgc tccccctcca gccctccccc cggcgcgcag
      361 cctcgggccg ctcccctttc cgcgctgcgt cccggagcgg ccccggtgcc gccaccgcct
      421 gtccccctcc cgaggcccgg gctcgcgacg gcagagggct ccgtcggccc aaaccgagct
      481 gggcgcccgc ggtccgggtg cagcctccac tccgcccccc agtcaccgcc tcccccggcc
      541 cctcgacgtg gcgcccttcc ctccgcttct ctgtgctccc cgcgcccctc ttggcgtctg
      601 gccccggccc ccgctctttc tcccgcaacc ttcccttcgc tccctcccgt cccccccagc
      661 tcctagcctc cgactccctc cccccctcac gcccgccctc tcgccttcgc cgaaccaaag
      721 tggattaatt acacgctttc tgtttctctc cgtgctgttc tctcccgctg tgcgcctgcc
      781 cgcctctcgc tgtcctctct ccccctcgcc ctctcttcgg cccccccctt tcacgttcac
      841 tctgtctctc ccactatctc tgcccccctc tatccttgat acaacagctg acctcatttc
      901 ccgatacctt ttcccccccg aaaagtacaa catctggccc gccccagccc gaagacagcc
      961 cgtcctccct ggacaatcag acgaattctc cccccccccc caaaaaaaag ccatcccccc
     1021 gctctgcccc gtcgcacatt cggcccccgc gactcggcca gagcggcgct ggcagaggag
     1081 tgtccggcag gagggccaac gcccgctgtt cggtttgcga cacgcagcag ggaggtgggc
     1141 ggcagcgtcg ccggcttcca gacaccaatg ggaatcccaa tggggaagtc gatgctggtg
     1201 cttctcacct tcttggcctt cgcctcgtgc tgcattgctg cttaccgccc cagtgagacc
     1261 ctgtgcggcg gggagctggt ggacaccctc cagttcgtct gtggggaccg cggcttctac
     1321 ttcagcaggc ccgcaagccg tgtgagccgt cgcagccgtg gcatcgttga ggagtgctgt
     1381 ttccgcagct gtgacctggc cctcctggag acgtactgtg ctacccccgc caagtccgag
     1441 agggacgtgt cgacccctcc gaccgtgctt ccggacaact tccccagata ccccgtgggc
     1501 aagttcttcc aatatgacac ctggaagcag tccacccagc gcctgcgcag gggcctgcct
     1561 gccctcctgc gtgcccgccg gggtcacgtg ctcgccaagg agctcgaggc gttcagggag
     1621 gccaaacgtc accgtcccct gattgctcta cccacccaag accccgccca cgggggcgcc
     1681 cccccagaga tggccagcaa tcggaagtga gcaaaactgc cgcaagtctg cagcccggcg
     1741 ccaccatcct gcagcctcct cctgaccacg gacgtttcca tcaggttcca tcccgaaaat
     1801 ctctcggttc cacgtccccc tggggcttct cctgacccag tccccgtgcc ccgcctcccc
     1861 gaaacaggct actctcctcg gccccctcca tcgggctgag gaagcacagc agcatcttca
     1921 aacatgtaca aaatcgattg gctttaaaca cccttcacat accctccccc caaattatcc
     1981 ccaattatcc ccacacataa aaaatcaaaa cattaaacta acccccttcc ccccccccca
     2041 caacaaccct cttaaaacta attggctttt tagaaacacc ccacaaaagc tcagaaattg
     2101 gctttaaaaa aaacaaccac caaaaaaaat caattggcta aaaaaaaaaa gtattaaaaa
     2161 cgaattggct gagaaacaat tggcaaaata aaggaatttg gcactcccca cccccctctt
     2221 tctcttctcc cttggacttt gagtcaaatt ggcctggact tgagtccctg aaccagcaaa
     2281 gagaaaagaa ggaccccaga aatcacaggt gggcacgtcg ctgctaccgc catctccctt
     2341 ctcacgggaa ttttcagggt aaactggcca tccgaaaata gcaacaaccc agactggctc
     2401 ctcactccct tttccatcac taaaaatcac agagcagtca gagggaccca gtaagaccaa
     2461 aggaggggag gacagagcat gaaaaccaaa atccatgcaa atgaaatgta attggcacga
     2521 ccctcacccc caaatcttac atctcaattc ccatcctaaa aagcactcat actttatgca
     2581 tccccgcagc tacacacaca caacacacag cacacgcatg aacacagcac acacacgagc
     2641 acagcacaca cacaaacgca cagcacacac agcacacaga tgagcacaca gcacacacac
     2701 aaacgcacag cacacacacg cacacacatg cacacacagc acacaaacgc acggcacaca
     2761 cacgcacaca catgcacaca cagcacacac acaaacgcac agcacacaca aacgcacagc
     2821 acacacgcac acacagcaca cacacgagca cacagcacac aaacgcacag cacacgcaca
     2881 cacatgcaca cacagcacac acactagcac acagcacaca cacaaagaca cagcacacac
     2941 atgcacacac agcacacaca cgcgaacaca gcacacacga acacagcaca cacagcacac
     3001 acacaaacac agcacacaca tgcacacagc acacgcacac acagcacaca catgaacaca
     3061 gcacacagca cacacatgca cacacagcac acacgcatgc acagcacaca tgaacacagc
     3121 acacacacaa acacacagca cacacatgca cacacagcac acacactcat gcgcagcaca
     3181 tacatgaaca cagctcacag cacacaaaca cgcagcacac acgttgcaca cgcaagcacc
     3241 cacctgcaca cacacatgcg cacacacacg cacaccccca caaaattgga tgaaaacaat
     3301 aagcatatct aagcaactac gatatctgta tggatcaggc caaagtcccg ctaagattct
     3361 ccaatgtttt catggtctga gccccgctcc tgttcccatc tccactgccc ctcggccctg
     3421 tctgtgccct gcctctcaga ggagggggct cagatggtgc ggcctgagtg tgcggccggc
     3481 ggcatttggg atacacccgt agggtgggcg gggtgtgtcc caggcctaat tccatctttc
     3541 caccatgaca gagatgccct tgtgaggctg gcctccttgg cgcctgtccc cacggccccc
     3601 gcagcgtgag ccacgatgct ccccataccc cacccattcc cgatacacct tacttactgt
     3661 gtgttggccc agccagagtg aggaaggagt ttggccacat tggagatggc ggtagctgag
     3721 cagacatgcc cccacgagta gcctgactcc ctggtgtgct cctggaagga agatcttggg
     3781 gaccccccca ccggagcaca cctagggatc atctttgccc gtctcctggg gaccccccaa
     3841 gaaatgtgga gtcctcgggg gccgtgcact gatgcgggga gtgtgggaag tctggcggtt
     3901 ggaggggtgg gtggggggca gtgggggctg ggcgggggga gttctggggt aggaagtggt
     3961 cccgggagat tttggatgga aaagtcagga ggattgacag cagacttgca gaattacata
     4021 gagaaattag gaacccccaa atttcatgtc aattgatcta ttccccctct ttgtttcttg
     4081 gggcattttt cctttttttt ttttttttgt ttttttttta cccctcctta gctttatgcg
     4141 ctcagaaacc aaattaaacc ccccccccat gtaacagggg ggcagtgaca aaagcaagaa
     4201 cgcacgaagc cagcctggag accaccacgt cctgcccccc gccatttatc gccctgattg
     4261 gattttgttt ttcatctgtc cctgttgctt gggttgagtt gagggtggag cctcctgggg
     4321 ggcactggcc actgagcccc cttggagaag tcagagggga gtggagaagg ccactgtccg
     4381 gcctggcttc tggggacagt ggctggtccc cagaagtcct gagggcggag gggggggttg
     4441 ggcagggtct cctcaggtgt caggagggtg ctcggaggcc acaggagggg gctcctggct
     4501 ggcctgaggc tggccggagg ggaaggggct agcaggtgtg taaacagagg gttccatcag
     4561 gctggggcag ggtggccgcc ttccgcacac ttgaggaacc ctcccctctc cctcggtgac
     4621 atcttgcccg cccctcagca ccctgccttg tctccaggag gtccgaagct ctgtgggacc
     4681 tcttgggggc aaggtggggt gaggccgggg agtagggagg tcaggcgggt ctgagcccac
     4741 agagcaggag agctgccagg tctgcccatc gaccaggttg cttgggcccc ggagcccacg
     4801 ggtctggtga tgccatagca gccaccaccg cggcgcctag ggctgcggca gggactcggc
     4861 ctctgggagg tttacctcgc ccccacttgt gcccccagct cagcccccct gcacgcagcc
     4921 cgactagcag tctagaggcc tgaggcttct gggtcctggt gacggggctg gcatgacccc
     4981 gggggtcgtc catgccagtc cgcctcagtc gcagagggtc cctcggcaag cgccctgtga
     5041 gtgggccatt cggaacattg gacagaagcc caaagagcca aattgtcaca attgtggaac
     5101 ccacattggc ctgagatcca aaacgcttcg aggcacccca aattacctgc ccattcgtca
     5161 ggacacccac ccacccagtg ttatattctg cctcgccgga gtgggtgttc ccgggggcac
     5221 ttgccgacca gccccttgcg tccccaggtt tgcagctctc ccctgggcca ctaaccatcc
     5281 tggcccgggc tgcctgtctg acctccgtgc ctagtcgtgg ctctccatct tgtctcctcc
     5341 ccgtgtcccc aatgtcttca gtggggggcc ccctcttggg tcccctcctc tgccatcacc
     5401 tgaagacccc cacgccaaac actgaatgtc acctgtgcct gccgcctcgg tccaccttgc
     5461 ggcccgtgtt tgactcaact caactccttt aacgctaata tttccggcaa aatcccatgc
     5521 ttgggttttg tctttaacct tgtaacgctt gcaatcccaa taaagcatta aaagtcatga
//
LOCUS       NM_000613               1575 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens hemopexin (HPX), mRNA.
ACCESSION   NM_000613
VERSION     NM_000613.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1575)
  AUTHORS   Liu W, Lu L, Pan H, He X, Zhang M, Wang N, Zhu J, Yi H and Tang S.
  TITLE     Heme oxygenase-1 and hemopexin gene polymorphisms and the risk of
            anti-tuberculosis drug-induced hepatotoxicity in China
  JOURNAL   Pharmacogenomics 23 (7), 431-441 (2022)
   PUBMED   35470713
  REMARK    GeneRIF: Heme oxygenase-1 and hemopexin gene polymorphisms and the
            risk of anti-tuberculosis drug-induced hepatotoxicity in China.
REFERENCE   2  (bases 1 to 1575)
  AUTHORS   Yildirim N, Unal S, Yalcinkaya A, Karahan F and Oztas Y.
  TITLE     Evaluation of the relationship between intravascular hemolysis and
            clinical manifestations in sickle cell disease: decreased hemopexin
            during vaso-occlusive crises and increased inflammation in acute
            chest syndrome
  JOURNAL   Ann Hematol 101 (1), 35-41 (2022)
   PUBMED   34564750
  REMARK    GeneRIF: Evaluation of the relationship between intravascular
            hemolysis and clinical manifestations in sickle cell disease:
            decreased hemopexin during vaso-occlusive crises and increased
            inflammation in acute chest syndrome.
REFERENCE   3  (bases 1 to 1575)
  AUTHORS   Philbert SA, Xu J, Unwin RD, Dowsey AW and Cooper GJS.
  TITLE     Widespread severe cerebral elevations of haptoglobin and haemopexin
            in sporadic Alzheimer's disease: Evidence for a pervasive
            microvasculopathy
  JOURNAL   Biochem Biophys Res Commun 555, 89-94 (2021)
   PUBMED   33813281
  REMARK    GeneRIF: Widespread severe cerebral elevations of haptoglobin and
            haemopexin in sporadic Alzheimer's disease: Evidence for a pervasive
            microvasculopathy.
REFERENCE   4  (bases 1 to 1575)
  AUTHORS   Law ML, Cai GY, Hartz JA, Jones C and Kao FT.
  TITLE     The hemopexin gene maps to the same location as the beta-globin gene
            cluster on human chromosome 11
  JOURNAL   Genomics 3 (1), 48-52 (1988)
   PUBMED   3220477
REFERENCE   5  (bases 1 to 1575)
  AUTHORS   Morgan WT, Alam J, Deaciuc V, Muster P, Tatum FM and Smith A.
  TITLE     Interaction of hemopexin with Sn-protoporphyrin IX, an inhibitor of
            heme oxygenase. Role for hemopexin in hepatic uptake of
            Sn-protoporphyrin IX and induction of mRNA for heme oxygenase
  JOURNAL   J Biol Chem 263 (17), 8226-8231 (1988)
   PUBMED   3372522
REFERENCE   6  (bases 1 to 1575)
  AUTHORS   Smith A, Tatum FM, Muster P, Burch MK and Morgan WT.
  TITLE     Importance of ligand-induced conformational changes in hemopexin for
            receptor-mediated heme transport
  JOURNAL   J Biol Chem 263 (11), 5224-5229 (1988)
   PUBMED   2833500
REFERENCE   7  (bases 1 to 1575)
  AUTHORS   Altruda F, Poli V, Restagno G and Silengo L.
  TITLE     Structure of the human hemopexin gene and evidence for
            intron-mediated evolution
  JOURNAL   J Mol Evol 27 (2), 102-108 (1988)
   PUBMED   2842511
REFERENCE   8  (bases 1 to 1575)
  AUTHORS   Taketani,S., Kohno,H., Naitoh,Y. and Tokunaga,R.
  TITLE     Isolation of the hemopexin receptor from human placenta
  JOURNAL   J Biol Chem 262 (18), 8668-8671 (1987)
   PUBMED   3036819
REFERENCE   9  (bases 1 to 1575)
  AUTHORS   Altruda,F., Poli,V., Restagno,G., Argos,P., Cortese,R. and
            Silengo,L.
  TITLE     The primary structure of human hemopexin deduced from cDNA sequence:
            evidence for internal, repeating homology
  JOURNAL   Nucleic Acids Res 13 (11), 3841-3859 (1985)
   PUBMED   2989777
REFERENCE   10  (bases 1 to 1575)
  AUTHORS   Takahashi,N., Takahashi,Y. and Putnam,F.W.
  TITLE     Complete amino acid sequence of human hemopexin, the heme-binding
            protein of serum
  JOURNAL   Proc Natl Acad Sci U S A 82 (1), 73-77 (1985)
   PUBMED   3855550
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.81928.1,
            SRR5189658.89065.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145122,
            SAMEA2155590 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000265983.8/ ENSP00000265983.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC005395.1, AK313648.1 and
            AV655383.1.
            On Nov 23, 2018 this sequence version replaced NM_000613.2.
            Summary: This gene encodes a plasma glycoprotein that binds heme
            with high affinity. The encoded protein is an acute phase protein
            that transports heme from the plasma to the liver and may be
            involved in protecting cells from oxidative stress. [provided by
            RefSeq, Apr 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1575
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1575
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="hemopexin"
                     /db_xref="GeneID:3263"
                     /db_xref="HGNC:HGNC:5171"
                     /db_xref="MIM:142290"
     CDS             25..1413
                     /gene="HPX"
                     /gene_synonym="HX"
                     /EC_number="3.2.1.35"
                     /note="beta-1B-glycoprotein; epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="hemopexin precursor"
                     /protein_id="NP_000604.1"
                     /db_xref="CCDS:CCDS7763.1"
                     /db_xref="GeneID:3263"
                     /db_xref="HGNC:HGNC:5171"
                     /db_xref="MIM:142290"
                     /translation="MARVLGAPVALGLWSLCWSLAIATPLPPTSAHGNVAEGETKPDPD
                     VTERCSDGWSFDATTLDDNGTMLFFKGEFVWKSHKWDRELISERWKNFPSPVDAAFRQG
                     HNSVFLIKGDKVWVYPPEKKEKGYPKLLQDEFPGIPSPLDAAVECHRGECQAEGVLFFQ
                     GDREWFWDLATGTMKERSWPAVGNCSSALRWLGRYYCFQGNQFLRFDPVRGEVPPRYPR
                     DVRDYFMPCPGRGHGHRNGTGHGNSTHHGPEYMRCSPHLVLSALTSDNHGATYAFSGTH
                     YWRLDTSRDGWHSWPIAHQWPQGPSAVDAAFSWEEKLYLVQGTQVYVFLTKGGYTLVSG
                     YPKRLEKEVGTPHGIILDSVDAAFICPGSSRLHIMAGRRLWWLDLKSGAQATWTELPWP
                     HEKVDGALCMEKSLGPNSCSANGPGLYLIHGPNLYCYSDVEKLNAAKALPQPQNVTSLL
                     GCTH"
     sig_peptide     25..93
                     /gene="HPX"
                     /gene_synonym="HX"
     mat_peptide     94..1410
                     /gene="HPX"
                     /gene_synonym="HX"
                     /product="hemopexin"
     misc_feature    94..96
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:19838169,
                     ECO:0000269|PubMed:6371807, ECO:0000269|PubMed:6510521;
                     propagated from UniProtKB/Swiss-Prot (P02790.2);
                     glycosylation site"
     misc_feature    109..168
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P02790.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    109..111
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:23234360; propagated from
                     UniProtKB/Swiss-Prot (P02790.2); glycosylation site"
     misc_feature    112..144
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P02790.2);
                     Region: O-glycosylated at one site"
     misc_feature    181..303
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P02790.2);
                     Region: Hemopexin 1"
     misc_feature    214..216
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19838169, ECO:0000269|PubMed:6371807;
                     propagated from UniProtKB/Swiss-Prot (P02790.2);
                     glycosylation site"
     misc_feature    304..441
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P02790.2);
                     Region: Hemopexin 2"
     misc_feature    442..576
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P02790.2);
                     Region: Hemopexin 3"
     misc_feature    577..717
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P02790.2);
                     Region: Hemopexin 4"
     misc_feature    583..585
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:15084671, ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:16740002, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19838169,
                     ECO:0000269|PubMed:6371807; propagated from
                     UniProtKB/Swiss-Prot (P02790.2); glycosylation site"
     misc_feature    742..744
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:6371807, ECO:0000269|PubMed:6510521;
                     propagated from UniProtKB/Swiss-Prot (P02790.2);
                     glycosylation site"
     misc_feature    760..762
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:6371807, ECO:0000269|PubMed:6510521;
                     propagated from UniProtKB/Swiss-Prot (P02790.2);
                     glycosylation site"
     misc_feature    799..936
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P02790.2);
                     Region: Hemopexin 5"
     misc_feature    937..1080
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P02790.2);
                     Region: Hemopexin 6"
     misc_feature    1093..1212
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P02790.2);
                     Region: Hemopexin 7"
     misc_feature    1222..1374
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="propagated from UniProtKB/Swiss-Prot (P02790.2);
                     Region: Hemopexin 8"
     misc_feature    1381..1383
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:15084671,
                     ECO:0000269|PubMed:16740002, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19838169,
                     ECO:0000269|PubMed:6371807; propagated from
                     UniProtKB/Swiss-Prot (P02790.2); glycosylation site"
     regulatory      1547..1552
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="hexamer: AATAAA"
     polyA_site      1575
                     /gene="HPX"
                     /gene_synonym="HX"
                     /note="major polyA site"
ORIGIN
        1 gtcctgtggc ctctgcagct cagcatggct agggtactgg gagcacccgt tgcactgggg
       61 ttgtggagcc tatgctggtc tctggccatt gccacccctc ttcctccgac tagtgcccat
      121 gggaatgttg ctgaaggcga gaccaagcca gacccagacg tgactgaacg ctgctcagat
      181 ggctggagct ttgatgctac caccctggat gacaatggaa ccatgctgtt ttttaaaggg
      241 gagtttgtgt ggaagagtca caaatgggac cgggagttaa tctcagagag atggaagaat
      301 ttccccagcc ctgtggatgc tgcattccgt caaggtcaca acagtgtctt tctgatcaag
      361 ggggacaaag tctgggtata ccctcctgaa aagaaggaga aaggataccc aaagttgctc
      421 caagatgaat ttcctggaat cccatcccca ctggatgcag ctgtggaatg tcaccgtgga
      481 gaatgtcaag ctgaaggcgt cctcttcttc caaggtgacc gcgagtggtt ctgggacttg
      541 gctacgggaa ccatgaagga gcgttcctgg ccagctgttg ggaactgctc ctctgccctg
      601 agatggctgg gccgctacta ctgcttccag ggtaaccaat tcctgcgctt cgaccctgtc
      661 aggggagagg tgcctcccag gtacccgcgg gatgtccgag actacttcat gccctgccct
      721 ggcagaggcc atggacacag gaatgggact ggccatggga acagtaccca ccatggccct
      781 gagtatatgc gctgtagccc acatctagtc ttgtctgcac tgacgtctga caaccatggt
      841 gccacctatg ccttcagtgg gacccactac tggcgtctgg acaccagccg ggatggctgg
      901 catagctggc ccattgctca tcagtggccc cagggtcctt cagcagtgga tgctgccttt
      961 tcctgggaag aaaaactcta tctggtccag ggcacccagg tatatgtctt cctgacaaag
     1021 ggaggctata ccctagtaag cggttatccg aagcggctgg agaaggaagt cgggacccct
     1081 catgggatta tcctggactc tgtggatgcg gcctttatct gccctgggtc ttctcggctc
     1141 catatcatgg caggacggcg gctgtggtgg ctggacctga agtcaggagc ccaagccacg
     1201 tggacagagc ttccttggcc ccatgagaag gtagacggag ccttgtgtat ggaaaagtcc
     1261 cttggcccta actcatgttc cgccaatggt cccggcttgt acctcatcca tggtcccaat
     1321 ttgtactgct acagtgatgt ggagaaactg aatgcagcca aggcccttcc gcaaccccag
     1381 aatgtgacca gtctcctggg ctgcactcac tgaggggcct tctgacatga gtctggcctg
     1441 gccccacctc ctagttcctc ataataaaga cagattgctt cttcgcttct cactgagggg
     1501 ccttctgaca tgagtctggc ctggccccac ctccccagtt tctcataata aagacagatt
     1561 gcttcttcac ttgaa
//
LOCUS       NM_000614               1902 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens ciliary neurotrophic factor (CNTF), mRNA.
ACCESSION   NM_000614
VERSION     NM_000614.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1902)
  AUTHORS   Sirkisoon SR, Wong GL, Aguayo NR, Doheny DL, Zhu D, Regua AT, Arrigo
            A, Manore SG, Wagner C, Thomas A, Singh R, Xing F, Jin G, Watabe K
            and Lo HW.
  TITLE     Breast cancer extracellular vesicles-derived miR-1290 activates
            astrocytes in the brain metastatic microenvironment via the
            FOXA2-->CNTF axis to promote progression of brain metastases
  JOURNAL   Cancer Lett 540, 215726 (2022)
   PUBMED   35589002
  REMARK    GeneRIF: Breast cancer extracellular vesicles-derived miR-1290
            activates astrocytes in the brain metastatic microenvironment via
            the FOXA2-->CNTF axis to promote progression of brain metastases.
REFERENCE   2  (bases 1 to 1902)
  AUTHORS   Perugini J, Di Mercurio E, Giuliani A, Sabbatinelli J, Bonfigli AR,
            Tortato E, Severi I, Cinti S, Olivieri F, le Roux CW, Gesuita R and
            Giordano A.
  TITLE     Ciliary neurotrophic factor is increased in the plasma of patients
            with obesity and its levels correlate with diabetes and inflammation
            indices
  JOURNAL   Sci Rep 12 (1), 8331 (2022)
   PUBMED   35585213
  REMARK    GeneRIF: Ciliary neurotrophic factor is increased in the plasma of
            patients with obesity and its levels correlate with diabetes and
            inflammation indices. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1902)
  AUTHORS   Fantone S, Tossetta G, Montironi R, Senzacqua M, Marzioni D and
            Mazzucchelli R.
  TITLE     Ciliary neurotrophic factor (CNTF) and its receptor (CNTFRalpha)
            signal through MAPK/ERK pathway in human prostate tissues: a
            morphological and biomolecular study
  JOURNAL   Eur J Histochem 64 (4), 3147 (2020)
   PUBMED   33131268
  REMARK    GeneRIF: Ciliary neurotrophic factor (CNTF) and its receptor
            (CNTFRalpha) signal through MAPK/ERK pathway in human prostate
            tissues: a morphological and biomolecular study. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 1902)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1902)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1902)
  AUTHORS   Schooltink H, Stoyan T, Roeb E, Heinrich PC and Rose-John S.
  TITLE     Ciliary neurotrophic factor induces acute-phase protein expression
            in hepatocytes
  JOURNAL   FEBS Lett 314 (3), 280-284 (1992)
   PUBMED   1281789
REFERENCE   7  (bases 1 to 1902)
  AUTHORS   Masiakowski P, Liu HX, Radziejewski C, Lottspeich F, Oberthuer W,
            Wong V, Lindsay RM, Furth ME and Panayotatos N.
  TITLE     Recombinant human and rat ciliary neurotrophic factors
  JOURNAL   J Neurochem 57 (3), 1003-1012 (1991)
   PUBMED   1861138
REFERENCE   8  (bases 1 to 1902)
  AUTHORS   McDonald JR, Ko C, Mismer D, Smith DJ and Collins F.
  TITLE     Expression and characterization of recombinant human ciliary
            neurotrophic factor from Escherichia coli
  JOURNAL   Biochim Biophys Acta 1090 (1), 70-80 (1991)
   PUBMED   1883844
REFERENCE   9  (bases 1 to 1902)
  AUTHORS   Bazan JF.
  TITLE     Neuropoietic cytokines in the hematopoietic fold
  JOURNAL   Neuron 7 (2), 197-208 (1991)
   PUBMED   1714745
REFERENCE   10  (bases 1 to 1902)
  AUTHORS   Lam A, Fuller F, Miller J, Kloss J, Manthorpe M, Varon S and Cordell
            B.
  TITLE     Sequence and structural organization of the human gene encoding
            ciliary neurotrophic factor
  JOURNAL   Gene 102 (2), 271-276 (1991)
   PUBMED   1840538
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC068030.1, SRR1660807.25441.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000361987.6/ ENSP00000355370.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001350.4, DB241497.1,
            BC068030.1 and DB341875.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000614.3.
            Summary: The protein encoded by this gene is a polypeptide hormone
            whose actions appear to be restricted to the nervous system where
            it promotes neurotransmitter synthesis and neurite outgrowth in
            certain neuronal populations. The protein is a potent survival
            factor for neurons and oligodendrocytes and may be relevant in
            reducing tissue destruction during inflammatory attacks. A mutation
            in this gene, which results in aberrant splicing, leads to ciliary
            neurotrophic factor deficiency, but this phenotype is not causally
            related to neurologic disease. A read-through transcript variant
            composed of the upstream ZFP91 gene and CNTF sequence has been
            identified, but it is thought to be non-coding. Read-through
            transcription of ZFP91 and CNTF has also been observed in mouse.
            [provided by RefSeq, Oct 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1902
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..1902
                     /gene="CNTF"
                     /gene_synonym="HCNTF"
                     /note="ciliary neurotrophic factor"
                     /db_xref="GeneID:1270"
                     /db_xref="HGNC:HGNC:2169"
                     /db_xref="MIM:118945"
     misc_feature    83..85
                     /gene="CNTF"
                     /gene_synonym="HCNTF"
                     /note="upstream in-frame stop codon"
     CDS             89..691
                     /gene="CNTF"
                     /gene_synonym="HCNTF"
                     /note="Ciliary Neuronotrophic Factor"
                     /codon_start=1
                     /product="ciliary neurotrophic factor"
                     /protein_id="NP_000605.1"
                     /db_xref="CCDS:CCDS31554.1"
                     /db_xref="GeneID:1270"
                     /db_xref="HGNC:HGNC:2169"
                     /db_xref="MIM:118945"
                     /translation="MAFTEHSPLTPHRRDLCSRSIWLARKIRSDLTALTESYVKHQGLN
                     KNINLDSADGMPVASTDQWSELTEAERLQENLQAYRTFHVLLARLLEDQQVHFTPTEGD
                     FHQAIHTLLLQVAAFAYQIEELMILLEYKIPRNEADGMPINVGDGGLFEKKLWGLKVLQ
                     ELSQWTVRSIHDLRFISSHQTGIPARGSHYIANNKKM"
     regulatory      1876..1881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CNTF"
                     /gene_synonym="HCNTF"
                     /note="hexamer: AATAAA"
     polyA_site      1902
                     /gene="CNTF"
                     /gene_synonym="HCNTF"
                     /note="major polyA site"
ORIGIN
        1 agtctttgag agtcacatct cttatttgga ccagtataga cagaagtaaa cccagctgac
       61 ttgtttcctg ggacagttga gttaagggat ggctttcaca gagcattcac cgctgacccc
      121 tcaccgtcgg gacctctgta gccgctctat ctggctagca aggaagattc gttcagacct
      181 gactgctctt acggaatcct atgtgaagca tcagggcctg aacaagaaca tcaacctgga
      241 ctctgcggat gggatgccag tggcaagcac tgatcagtgg agtgagctga ccgaggcaga
      301 gcgactccaa gagaaccttc aagcttatcg taccttccat gttttgttgg ccaggctctt
      361 agaagaccag caggtgcatt ttaccccaac cgaaggtgac ttccatcaag ctatacatac
      421 ccttcttctc caagtcgctg cctttgcata ccagatagag gagttaatga tactcctgga
      481 atacaagatc ccccgcaatg aggctgatgg gatgcctatt aatgttggag atggtggtct
      541 ctttgagaag aagctgtggg gcctaaaggt gctgcaggag ctttcacagt ggacagtaag
      601 gtccatccat gaccttcgtt tcatttcttc tcatcagact gggatcccag cacgtgggag
      661 ccattatatt gctaacaaca agaaaatgta gcagttagtc ccttctctct tccttgcttt
      721 ctcttctaat ggaatatgcg tagttccctg gggcctcgct ttcccatctt aaatttctaa
      781 aaacagttaa gacaacaggc attttctttc ttttttctct gaccacctgc agcctgttga
      841 aggactacag gtattttcat caagtagcgt tggagacata cacaaatggg catacaagtt
      901 tagcctgggg ggtgtgattt gtgtgcgtgc ttgcatgtgc tgcaggtgta agagagtggg
      961 agcagggaca acgtccttcc acttcagggt tctaaccttt ctaacccact aagtaacctc
     1021 tacaggcatt taactgcctt acagacagaa tatacatatg ttaattctag tcctggatga
     1081 ctcggtctga gaagattcaa tttaaaatca gactctttag ttgatttaaa ctcttagaga
     1141 ataagaataa taatggctaa cttttattat cttctatatt aaggcagtat gccaagggtc
     1201 tttatgtata ttatgtacag cgtttacaac cttgtgagca aggtggtgtt actcccatta
     1261 ggtagatgag aaaacaggct cacagagatt tggttaagct cacacagcta acaagtagca
     1321 cactgagttt gaacacagat cattctcctt gtaaaagcct atgtgccttt cactttagag
     1381 gcttgatcat gaatcactgc acctctttgt cacagggtgt tggaagatgc atccatgtaa
     1441 tctattccca tcgctggaaa acagctgctg ttagatgtcc tcagaagtca gttgcaaatt
     1501 ttagcgttaa agtcaggatt tattgttcat acttggcggt gaggagggca gctggagatc
     1561 ttaagattcc attttggaaa atgattaggc ccgccaaact tctgaacttt ggaagctggg
     1621 gatgtttagt aatacagcct ggtttttaag tactcactaa aagttctcaa atattgggtt
     1681 gggcacggct tataccaggt tacctcactt ttaattagtg atgcaggcag tgtaacccaa
     1741 gcatttgtgg acaatgagtg gaatactaaa gttaaaaagt caaactttca cctcagattt
     1801 tctggactta gtcatgagga gagggtgagg cccactctgt tcctactgga gataccagag
     1861 actctgaaac tatagaataa agcctctgtg ctgcacaaca aa
//
LOCUS       NM_000616               3049 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.
ACCESSION   NM_000616
VERSION     NM_000616.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3049)
  AUTHORS   Veatch JR and Riddell SR.
  TITLE     Stem-cell-like CD4+ T cells prey on MHC class II-negative tumors
  JOURNAL   Nat Immunol 24 (8), 1212-1214 (2023)
   PUBMED   37460640
  REMARK    GeneRIF: Stem-cell-like CD4[+] T cells prey on MHC class II-negative
            tumors.
REFERENCE   2  (bases 1 to 3049)
  AUTHORS   Erdem SB, Genel F, Nacaroglu HT, Karaman S, Karkiner CSU, Surucu M
            and Can D.
  TITLE     CD4+CD25+CD127loFOXP3+ cell in food allergy: Does it predict
            anaphylaxis?
  JOURNAL   Allergol Immunopathol (Madr) 51 (3), 8-14 (2023)
   PUBMED   37169554
  REMARK    GeneRIF: CD4+CD25+CD127[lo]FOXP3+ cell in food allergy: Does it
            predict anaphylaxis? Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3049)
  AUTHORS   Olety B, Usami Y, Wu Y, Peters P and Gottlinger H.
  TITLE     AP-2 Adaptor Complex-Dependent Enhancement of HIV-1 Replication by
            Nef in the Absence of the Nef/AP-2 Targets SERINC5 and CD4
  JOURNAL   mBio 14 (1), e0338222 (2023)
   PUBMED   36622146
  REMARK    GeneRIF: AP-2 Adaptor Complex-Dependent Enhancement of HIV-1
            Replication by Nef in the Absence of the Nef/AP-2 Targets SERINC5
            and CD4.
REFERENCE   4  (bases 1 to 3049)
  AUTHORS   Garcia-Martin E, Navarro-Munoz S, Ayuso P, Rodriguez C, Serrador M,
            Alonso-Navarro H, Calleja M, Navacerrada F, Turpin-Fenoll L,
            Recio-Bermejo M, Garcia-Ruiz R, Millan-Pascual J, Plaza-Nieto JF,
            Garcia-Albea E, Agundez JAG and Jimenez-Jimenez FJ.
  TITLE     Lack of Association between Common LAG3/CD4 Variants and Risk of
            Migraine
  JOURNAL   Int J Mol Sci 24 (2), 1292 (2023)
   PUBMED   36674807
  REMARK    GeneRIF: Lack of Association between Common LAG3/CD4 Variants and
            Risk of Migraine. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3049)
  AUTHORS   Garcia-Martin E, Agundez JAG, Gomez-Tabales J, Benito-Leon J,
            Millan-Pascual J, Diaz-Sanchez M, Calleja P, Turpin-Fenoll L,
            Alonso-Navarro H, Garcia-Albea E, Plaza-Nieto JF and Jimenez-Jimenez
            FJ.
  TITLE     Association between LAG3/CD4 Genes Variants and Risk for Multiple
            Sclerosis
  JOURNAL   Int J Mol Sci 23 (23), 15244 (2022)
   PUBMED   36499569
  REMARK    GeneRIF: Association between LAG3/CD4 Genes Variants and Risk for
            Multiple Sclerosis. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3049)
  AUTHORS   Willey RL, Maldarelli F, Martin MA and Strebel K.
  TITLE     Human immunodeficiency virus type 1 Vpu protein induces rapid
            degradation of CD4
  JOURNAL   J Virol 66 (12), 7193-7200 (1992)
   PUBMED   1433512
REFERENCE   7  (bases 1 to 3049)
  AUTHORS   Fomsgaard A, Hirsch VM and Johnson PR.
  TITLE     Cloning and sequences of primate CD4 molecules: diversity of the
            cellular receptor for simian immunodeficiency virus/human
            immunodeficiency virus
  JOURNAL   Eur J Immunol 22 (11), 2973-2981 (1992)
   PUBMED   1425921
REFERENCE   8  (bases 1 to 3049)
  AUTHORS   Crise B and Rose JK.
  TITLE     Identification of palmitoylation sites on CD4, the human
            immunodeficiency virus receptor
  JOURNAL   J Biol Chem 267 (19), 13593-13597 (1992)
   PUBMED   1618861
REFERENCE   9  (bases 1 to 3049)
  AUTHORS   Seong RH, Chamberlain JW and Parnes JR.
  TITLE     Signal for T-cell differentiation to a CD4 cell lineage is delivered
            by CD4 transmembrane region and/or cytoplasmic tail
  JOURNAL   Nature 356 (6371), 718-720 (1992)
   PUBMED   1533274
REFERENCE   10  (bases 1 to 3049)
  AUTHORS   Wang JH, Yan YW, Garrett TP, Liu JH, Rodgers DW, Garlick RL, Tarr
            GE, Husain Y, Reinherz EL and Harrison SC.
  TITLE     Atomic structure of a fragment of human CD4 containing two
            immunoglobulin-like domains
  JOURNAL   Nature 348 (6300), 411-418 (1990)
   PUBMED   1701030
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.170077.1,
            SRR1803617.62474.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related         :: relevant for COVID-19 prognosis
            MANE Ensembl match          :: ENST00000011653.9/ ENSP00000011653.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC125494.2 and U47924.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000616.4.
            Summary: This gene encodes the CD4 membrane glycoprotein of T
            lymphocytes. The CD4 antigen acts as a coreceptor with the T-cell
            receptor on the T lymphocyte to recognize antigens displayed by an
            antigen presenting cell in the context of class II MHC molecules.
            The CD4 antigen is also a primary receptor for entry of the human
            immunodeficiency virus through interactions with the HIV Env gp120
            subunit. This gene is expressed not only in T lymphocytes, but also
            in B cells, macrophages, granulocytes, as well as in various
            regions of the brain. The protein functions to initiate or augment
            the early phase of T-cell activation, and may function as an
            important mediator of indirect neuronal damage in infectious and
            immune-mediated diseases of the central nervous system. Multiple
            alternatively spliced transcript variants encoding different
            isoforms have been identified in this gene. [provided by RefSeq,
            May 2020].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1) including a signal peptide and a mature peptide.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3049
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..3049
                     /gene="CD4"
                     /gene_synonym="CD4mut; IMD79; Leu-3; OKT4D; T4"
                     /note="CD4 molecule"
                     /db_xref="GeneID:920"
                     /db_xref="HGNC:HGNC:1678"
                     /db_xref="MIM:186940"
     CDS             203..1579
                     /gene="CD4"
                     /gene_synonym="CD4mut; IMD79; Leu-3; OKT4D; T4"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; CD4 antigen (p55); CD4 receptor; T-cell surface antigen
                     T4/Leu-3"
                     /codon_start=1
                     /product="T-cell surface glycoprotein CD4 isoform 1
                     precursor"
                     /protein_id="NP_000607.1"
                     /db_xref="CCDS:CCDS8562.1"
                     /db_xref="GeneID:920"
                     /db_xref="HGNC:HGNC:1678"
                     /db_xref="MIM:186940"
                     /translation="MNRGVPFRHLLLVLQLALLPAATQGKKVVLGKKGDTVELTCTASQ
                     KKSIQFHWKNSNQIKILGNQGSFLTKGPSKLNDRADSRRSLWDQGNFPLIIKNLKIEDS
                     DTYICEVEDQKEEVQLLVFGLTANSDTHLLQGQSLTLTLESPPGSSPSVQCRSPRGKNI
                     QGGKTLSVSQLELQDSGTWTCTVLQNQKKVEFKIDIVVLAFQKASSIVYKKEGEQVEFS
                     FPLAFTVEKLTGSGELWWQAERASSSKSWITFDLKNKEVSVKRVTQDPKLQMGKKLPLH
                     LTLPQALPQYAGSGNLTLALEAKTGKLHQEVNLVVMRATQLQKNLTCEVWGPTSPKLML
                     SLKLENKEAKVSKREKAVWVLNPEAGMWQCLLSDSGQVLLESNIKVLPTWSTPVQPMAL
                     IVLGGVAGLLLFIGLGIFFCVRCRHRRRQAERMSQIKRLLSEKKTCQCPHRFQKTCSPI
                     "
     sig_peptide     203..277
                     /gene="CD4"
                     /gene_synonym="CD4mut; IMD79; Leu-3; OKT4D; T4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     278..1576
                     /gene="CD4"
                     /gene_synonym="CD4mut; IMD79; Leu-3; OKT4D; T4"
                     /product="T-cell surface glycoprotein CD4 isoform 1"
     misc_feature    1088..1090
                     /gene="CD4"
                     /gene_synonym="CD4mut; IMD79; Leu-3; OKT4D; T4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:2001369, ECO:0000269|PubMed:2592374.
                     /id=CAR_000053; propagated from UniProtKB/Swiss-Prot
                     (P01730.1); glycosylation site"
     misc_feature    1175..1177
                     /gene="CD4"
                     /gene_synonym="CD4mut; IMD79; Leu-3; OKT4D; T4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:2001369,
                     ECO:0000269|PubMed:2592374. /id=CAR_000054; propagated from
                     UniProtKB/Swiss-Prot (P01730.1); glycosylation site"
     misc_feature    1391..1456
                     /gene="CD4"
                     /gene_synonym="CD4mut; IMD79; Leu-3; OKT4D; T4"
                     /note="propagated from UniProtKB/Swiss-Prot (P01730.1);
                     transmembrane region"
     misc_feature    1481..1567
                     /gene="CD4"
                     /gene_synonym="CD4mut; IMD79; Leu-3; OKT4D; T4"
                     /note="propagated from UniProtKB/Swiss-Prot (P01730.1);
                     Region: HIV-1 Vpu-susceptibility domain"
     misc_feature    1499..1501
                     /gene="CD4"
                     /gene_synonym="CD4mut; IMD79; Leu-3; OKT4D; T4"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:2105883;
                     propagated from UniProtKB/Swiss-Prot (P01730.1);
                     phosphorylation site"
     misc_feature    1520..1522
                     /gene="CD4"
                     /gene_synonym="CD4mut; IMD79; Leu-3; OKT4D; T4"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:2105883;
                     propagated from UniProtKB/Swiss-Prot (P01730.1);
                     phosphorylation site"
     misc_feature    1568..1570
                     /gene="CD4"
                     /gene_synonym="CD4mut; IMD79; Leu-3; OKT4D; T4"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:2105883;
                     propagated from UniProtKB/Swiss-Prot (P01730.1);
                     phosphorylation site"
     regulatory      3028..3033
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD4"
                     /gene_synonym="CD4mut; IMD79; Leu-3; OKT4D; T4"
                     /note="hexamer: AATAAA"
     polyA_site      3049
                     /gene="CD4"
                     /gene_synonym="CD4mut; IMD79; Leu-3; OKT4D; T4"
                     /note="major polyA site"
ORIGIN
        1 ctctcttcat ttaagcacga ctctgcagaa ggaacaaagc accctcccca ctgggctcct
       61 ggttgcagag ctccaagtcc tcacacagat acgcctgttt gagaagcagc gggcaagaaa
      121 gacgcaagcc cagaggccct gccatttctg tgggctcagg tccctactgg ctcaggcccc
      181 tgcctccctc ggcaaggcca caatgaaccg gggagtccct tttaggcact tgcttctggt
      241 gctgcaactg gcgctcctcc cagcagccac tcagggaaag aaagtggtgc tgggcaaaaa
      301 aggggataca gtggaactga cctgtacagc ttcccagaag aagagcatac aattccactg
      361 gaaaaactcc aaccagataa agattctggg aaatcagggc tccttcttaa ctaaaggtcc
      421 atccaagctg aatgatcgcg ctgactcaag aagaagcctt tgggaccaag gaaactttcc
      481 cctgatcatc aagaatctta agatagaaga ctcagatact tacatctgtg aagtggagga
      541 ccagaaggag gaggtgcaat tgctagtgtt cggattgact gccaactctg acacccacct
      601 gcttcagggg cagagcctga ccctgacctt ggagagcccc cctggtagta gcccctcagt
      661 gcaatgtagg agtccaaggg gtaaaaacat acaggggggg aagaccctct ccgtgtctca
      721 gctggagctc caggatagtg gcacctggac atgcactgtc ttgcagaacc agaagaaggt
      781 ggagttcaaa atagacatcg tggtgctagc tttccagaag gcctccagca tagtctataa
      841 gaaagagggg gaacaggtgg agttctcctt cccactcgcc tttacagttg aaaagctgac
      901 gggcagtggc gagctgtggt ggcaggcgga gagggcttcc tcctccaagt cttggatcac
      961 ctttgacctg aagaacaagg aagtgtctgt aaaacgggtt acccaggacc ctaagctcca
     1021 gatgggcaag aagctcccgc tccacctcac cctgccccag gccttgcctc agtatgctgg
     1081 ctctggaaac ctcaccctgg cccttgaagc gaaaacagga aagttgcatc aggaagtgaa
     1141 cctggtggtg atgagagcca ctcagctcca gaaaaatttg acctgtgagg tgtggggacc
     1201 cacctcccct aagctgatgc tgagtttgaa actggagaac aaggaggcaa aggtctcgaa
     1261 gcgggagaag gcggtgtggg tgctgaaccc tgaggcgggg atgtggcagt gtctgctgag
     1321 tgactcggga caggtcctgc tggaatccaa catcaaggtt ctgcccacat ggtccacccc
     1381 ggtgcagcca atggccctga ttgtgctggg gggcgtcgcc ggcctcctgc ttttcattgg
     1441 gctaggcatc ttcttctgtg tcaggtgccg gcaccgaagg cgccaagcag agcggatgtc
     1501 tcagatcaag agactcctca gtgagaagaa gacctgccag tgtcctcacc ggtttcagaa
     1561 gacatgtagc cccatttgag gcacgaggcc aggcagatcc cacttgcagc ctccccaggt
     1621 gtctgccccg cgtttcctgc ctgcggacca gatgaatgta gcagatcccc agcctctggc
     1681 ctcctgttcg cctcctctac aatttgccat tgtttctcct gggttaggcc ccggcttcac
     1741 tggttgagtg ttgctctcta gtttccagag gcttaatcac accgtcctcc acgccatttc
     1801 cttttccttc aagcctagcc cttctctcat tatttctctc tgaccctctc cccactgctc
     1861 atttggatcc caggggagtg ttcagggcca gccctggctg gcatggaggg tgaggctggg
     1921 tgtctggaag catggagcat gggactgttc ttttacaaga caggaccctg ggaccacaga
     1981 gggcaggaac ttgcacaaaa tcacacagcc aagccagtca aggatggatg cagatccaga
     2041 ggtttctggc agccagtacc tcctgcccca tgctgcccgc ttctcaccct atgtgggtgg
     2101 gaccacagac tcacatcctg accttgcaca aacagcccct ctggacacag ccccatgtac
     2161 acggcctcaa gggatgtctc acatcctctg tctatttgag acttagaaaa atcctacaag
     2221 gctggcagtg acagaactaa gatgatcatc tccagtttat agaccagaac cagagctcag
     2281 agaggctaga tgattgatta ccaagtgccg gactagcaag tgctggagtc gggactaacc
     2341 caggtccctt gtcccaagtt ccactgctgc ctcttgaatg cagggacaaa tgccacacgg
     2401 ctctcaccag tggctagtgg tgggtactca atgtgtactt ttgggttcac agaagcacag
     2461 cacccatggg aagggtccat ctcagagaat ttacgagcag ggatgaaggc ctccctgtct
     2521 aaaatccctc cttcatcccc cgctggtggc agaatctgtt accagaggac aaagcctttg
     2581 gctcttctaa tcagagcgca agctgggagc acaggcactg caggagagaa tgcccagtga
     2641 ccagtcactg accctgtgca gaacctcctg gaagcgagct ttgctgggag agggggtagc
     2701 tagcctgaga gggaaccctc taagggacct caaaggtgat tgtgccaggc tctgcgcctg
     2761 ccccacaccc tcccttaccc tcctccagac cattcaggac acagggaaat cagggttaca
     2821 aatcttcttg atccacttct ctcaggatcc cctctcttcc tacccttcct caccacttcc
     2881 ctcagtccca actccttttc cctatttcct tctcctcctg tctttaaagc ctgcctcttc
     2941 caggaagacc cccctattgc tgctggggct ccccatttgc ttactttgca tttgtgccca
     3001 ctctccaccc ctgctcccct gagctgaaat aaaaatacaa taaacttac
//
LOCUS       NM_000617               4132 bp    mRNA    linear   PRI 12-FEB-2023
DEFINITION  Homo sapiens solute carrier family 11 member 2 (SLC11A2), transcript
            variant 4, mRNA.
ACCESSION   NM_000617
VERSION     NM_000617.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4132)
  AUTHORS   Tian L, Li X, Lai H, Sun T, Li X, Wu L, Wu C, Yao S, Ren Y, He S and
            Yang G.
  TITLE     SLC11A2: a promising biomarker and therapeutic target in ovarian
            cancer
  JOURNAL   Sci Rep 13 (1), 1132 (2023)
   PUBMED   36670142
  REMARK    GeneRIF: SLC11A2: a promising biomarker and therapeutic target in
            ovarian cancer. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4132)
  AUTHORS   Pandey S, Kunder S, Bajaj N, Dwivedi S, Singh J, Shinde S, Pandey D
            and Pandey SK.
  TITLE     Genotypic Effect of IVS4+44C>A and c.2044T>C DMT1 Gene Mutations on
            Pathophysiology of Iron-Deficiency Anemia
  JOURNAL   Indian J Pediatr 89 (9), 946 (2022)
   PUBMED   35857262
  REMARK    GeneRIF: Genotypic Effect of IVS4+44C>A and c.2044T>C DMT1 Gene
            Mutations on Pathophysiology of Iron-Deficiency Anemia.
REFERENCE   3  (bases 1 to 4132)
  AUTHORS   Michalczyk K, Kapczuk P, Witczak G, Bosiacki M, Kurzawski M, Chlubek
            D and Cymbaluk-Ploska A.
  TITLE     The Associations between Metalloestrogens, GSTP1, and SLC11A2
            Polymorphism and the Risk of Endometrial Cancer
  JOURNAL   Nutrients 14 (15), 3079 (2022)
   PUBMED   35893933
  REMARK    GeneRIF: The Associations between Metalloestrogens, GSTP1, and
            SLC11A2 Polymorphism and the Risk of Endometrial Cancer. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 4132)
  AUTHORS   Sugino Y, Uchiyama R, Shibasaki C and Kugawa F.
  TITLE     Regulation of Iron-Ion Transporter SLC11A2 by Three Identical miRNAs
  JOURNAL   Biol Pharm Bull 45 (9), 1291-1299 (2022)
   PUBMED   36047197
  REMARK    GeneRIF: Regulation of Iron-Ion Transporter SLC11A2 by Three
            Identical miRNAs.
REFERENCE   5  (bases 1 to 4132)
  AUTHORS   Tabuchi M, Tanaka N, Nishida-Kitayama J, Ohno H and Kishi F.
  TITLE     Alternative splicing regulates the subcellular localization of
            divalent metal transporter 1 isoforms
  JOURNAL   Mol Biol Cell 13 (12), 4371-4387 (2002)
   PUBMED   12475959
REFERENCE   6  (bases 1 to 4132)
  AUTHORS   Hubert N and Hentze MW.
  TITLE     Previously uncharacterized isoforms of divalent metal transporter
            (DMT)-1: implications for regulation and cellular function
  JOURNAL   Proc Natl Acad Sci U S A 99 (19), 12345-12350 (2002)
   PUBMED   12209011
  REMARK    GeneRIF: iron regulation of DMT1 involves the expression of a
            previously unrecognized upstream 5' exon (exon 1A) of the human and
            murine DMT1 gene
REFERENCE   7  (bases 1 to 4132)
  AUTHORS   Lee PL, Gelbart T, West C, Halloran C and Beutler E.
  TITLE     The human Nramp2 gene: characterization of the gene structure,
            alternative splicing, promoter region and polymorphisms
  JOURNAL   Blood Cells Mol Dis 24 (2), 199-215 (1998)
   PUBMED   9642100
REFERENCE   8  (bases 1 to 4132)
  AUTHORS   Kishi F and Tabuchi M.
  TITLE     Complete nucleotide sequence of human NRAMP2 cDNA
  JOURNAL   Mol Immunol 34 (12-13), 839-842 (1997)
   PUBMED   9464519
REFERENCE   9  (bases 1 to 4132)
  AUTHORS   Fleming MD, Trenor CC 3rd, Su MA, Foernzler D, Beier DR, Dietrich WF
            and Andrews NC.
  TITLE     Microcytic anaemia mice have a mutation in Nramp2, a candidate iron
            transporter gene
  JOURNAL   Nat Genet 16 (4), 383-386 (1997)
   PUBMED   9241278
REFERENCE   10  (bases 1 to 4132)
  AUTHORS   Vidal S, Belouchi AM, Cellier M, Beatty B and Gros P.
  TITLE     Cloning and characterization of a second human NRAMP gene on
            chromosome 12q13
  JOURNAL   Mamm Genome 6 (4), 224-230 (1995)
   PUBMED   7613023
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC100014.1, AB004857.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000262052.9/ ENSP00000262052.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC100014.1, DA957633.1 and
            AB004857.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000617.2.
            Summary: This gene encodes a member of the solute carrier family 11
            protein family. The product of this gene transports divalent metals
            and is involved in iron absorption. Mutations in this gene are
            associated with hypochromic microcytic anemia with iron overload. A
            related solute carrier family 11 protein gene is located on
            chromosome 2. Multiple transcript variants encoding different
            isoforms have been found for this gene.[provided by RefSeq, Apr
            2010].
            Transcript Variant: This variant (4) differs in the 5' UTR and 5'
            coding region compared to variant 1. The resulting protein (isoform
            3) has a shorter and distinct N-terminus compared to isoform 1.
            Variants 4, 5 and 6 encode isoform 3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4132
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..4132
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="solute carrier family 11 member 2"
                     /db_xref="GeneID:4891"
                     /db_xref="HGNC:HGNC:10908"
                     /db_xref="MIM:600523"
     misc_feature    72..74
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="upstream in-frame stop codon"
     CDS             114..1799
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="isoform 3 is encoded by transcript variant 4;
                     natural resistance-associated macrophage protein 2; DMT-1;
                     NRAMP 2; divalent cation transporter 1; solute carrier
                     family 11 (proton-coupled divalent metal ion transporters),
                     member 2; solute carrier family 11 (proton-coupled divalent
                     metal ion transporter), member 2"
                     /codon_start=1
                     /product="natural resistance-associated macrophage protein
                     2 isoform 3"
                     /protein_id="NP_000608.1"
                     /db_xref="CCDS:CCDS8805.1"
                     /db_xref="GeneID:4891"
                     /db_xref="HGNC:HGNC:10908"
                     /db_xref="MIM:600523"
                     /translation="MVLGPEQKMSDDSVSGDHGESASLGNINPAYSNPSLSQSPGDSEE
                     YFATYFNEKISIPEEEYSCFSFRKLWAFTGPGFLMSIAYLDPGNIESDLQSGAVAGFKL
                     LWILLLATLVGLLLQRLAARLGVVTGLHLAEVCHRQYPKVPRVILWLMVELAIIGSDMQ
                     EVIGSAIAINLLSVGRIPLWGGVLITIADTFVFLFLDKYGLRKLEAFFGFLITIMALTF
                     GYEYVTVKPSQSQVLKGMFVPSCSGCRTPQIEQAVGIVGAVIMPHNMYLHSALVKSRQV
                     NRNNKQEVREANKYFFIESCIALFVSFIINVFVVSVFAEAFFGKTNEQVVEVCTNTSSP
                     HAGLFPKDNSTLAVDIYKGGVVLGCYFGPAALYIWAVGILAAGQSSTMTGTYSGQFVME
                     GFLNLKWSRFARVVLTRSIAIIPTLLVAVFQDVEHLTGMNDFLNVLQSLQLPFALIPIL
                     TFTSLRPVMSDFANGLGWRIAGGILVLIICSINMYFVVVYVRDLGHVALYVVAAVVSVA
                     YLGFVFYLGWQCLIALGMSFLDCGHTVSISKGLLTEEATRGYVK"
     misc_feature    114..233
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49281.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    321..383
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49281.2);
                     transmembrane region"
     misc_feature    402..464
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49281.2);
                     transmembrane region"
     misc_feature    576..638
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49281.2);
                     transmembrane region"
     misc_feature    651..713
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49281.2);
                     transmembrane region"
     misc_feature    738..800
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49281.2);
                     transmembrane region"
     misc_feature    879..941
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49281.2);
                     transmembrane region"
     misc_feature    1017..1079
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49281.2);
                     transmembrane region"
     misc_feature    1119..1121
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P49281.2); glycosylation site"
     misc_feature    1158..1160
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P49281.2); glycosylation site"
     misc_feature    1194..1256
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49281.2);
                     transmembrane region"
     misc_feature    1338..1400
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49281.2);
                     transmembrane region"
     misc_feature    1434..1496
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49281.2);
                     transmembrane region"
     misc_feature    1560..1622
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49281.2);
                     transmembrane region"
     misc_feature    1632..1694
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P49281.2);
                     transmembrane region"
     regulatory      4108..4113
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="hexamer: ATTAAA"
     polyA_site      4132
                     /gene="SLC11A2"
                     /gene_synonym="AHMIO1; DCT1; DMT1; NRAMP2"
                     /note="major polyA site"
ORIGIN
        1 agcgtggcgc tggctcccgg aatatggagc cctgggcgcg ggggcggcgt gtcaggtggt
       61 tgcggagctg gtaagaatca tattctaaga actcagccac tcaggtatcc accatggtgc
      121 tgggtcctga acagaagatg tcagatgaca gtgtttctgg agatcatggg gagtctgcca
      181 gtcttggtaa catcaaccct gcctatagta atccctctct ttcacagtcc cctggggact
      241 cagaggagta cttcgccact tactttaatg agaagatctc cattcctgag gaggagtact
      301 cttgttttag ctttcgtaaa ctctgggctt tcaccggacc aggttttctt atgagcattg
      361 cctacctgga tccaggaaat attgaatccg atttgcagtc tggagcagtg gctggattta
      421 agttgctctg gatccttctg ttggccaccc ttgtggggct gctgctccag cggcttgcag
      481 ctagactggg agtggttact gggctgcatc ttgctgaagt atgtcaccgt cagtatccca
      541 aggtcccacg agtcatcctg tggctgatgg tggagttggc tatcatcggc tcagacatgc
      601 aagaagtcat tggctcagcc attgctatca atcttctgtc tgtaggaaga attcctctgt
      661 ggggtggcgt tctcatcacc attgcagata cttttgtatt tctcttcttg gacaaatatg
      721 gcttgcggaa gctagaagca ttttttggct ttctcatcac tattatggcc ctcacatttg
      781 gatatgagta tgttacagtg aaacccagcc agagccaggt actcaagggc atgttcgtac
      841 catcctgttc aggctgtcgc actccacaga ttgaacaggc tgtgggcatc gtgggagctg
      901 tcatcatgcc acacaacatg tacctgcatt ctgccttagt caagtctaga caggtaaacc
      961 ggaacaataa gcaggaagtt cgagaagcca ataagtactt tttcattgaa tcctgcattg
     1021 cactctttgt ttccttcatc atcaatgtct ttgttgtctc agtctttgct gaagcatttt
     1081 ttgggaaaac caacgagcag gtggttgaag tctgtacaaa taccagcagt cctcatgctg
     1141 gcctctttcc taaagataac tcgacactgg ctgtggacat ctacaaaggg ggtgttgtgc
     1201 tgggatgtta ctttgggcct gctgcactct acatttgggc agtggggatc ctggctgcag
     1261 gacagagctc caccatgaca ggaacctatt ctggccagtt tgtcatggag ggattcctga
     1321 acctaaagtg gtcacgcttt gcccgagtgg ttctgactcg ctctattgcc atcatcccca
     1381 ctctgcttgt tgctgtcttc caagatgtag agcatctaac agggatgaat gactttctga
     1441 atgttctaca gagcttacag cttccctttg ctctcatacc catcctcaca tttacgagct
     1501 tgcggccagt aatgagtgac tttgccaatg gactaggctg gcggattgca ggaggaatct
     1561 tggtccttat catctgttcc atcaatatgt actttgtagt ggtttatgtc cgggacctag
     1621 ggcatgtggc attatatgtg gtggctgctg tggtcagcgt ggcttatctg ggctttgtgt
     1681 tctacttggg ttggcaatgt ttgattgcac tgggcatgtc cttcctggac tgtgggcata
     1741 cggtaagcat ctctaaaggc ctgctgacag aagaagccac ccgtggctac gttaaataac
     1801 actggattag tctgtcttct gcaggtagcc atcagagcca gtgtgtttct atggtttact
     1861 gtgtgaacat agccaaaagt atgtgccgtt gcacagactg tgtttatgac tcaaccgttg
     1921 gttggaaaag actttgtttc atgtgtattt gaaagatgga attatttttt ccttcctgac
     1981 ctaaccttag aactggatta gggtgggatc tttgaaaagc tgacatttgc tgctatcatt
     2041 ccaacactaa attcttaagt agttgcccaa gggccagctc agtttatcct tcggagagac
     2101 aaggatatgc atgattctta accaggctat atgttaaaaa aaaattggaa aatgcaatac
     2161 attttttatt atacaaacta cagaatgagt atgcaagttt tatttatcaa aatgtaatgg
     2221 atttttaaag gctgagaaat tttccttata cctacctttt cagttatttt aattatacca
     2281 aattatcaac tagaatagct tcatccatat gaaatataaa atgaagagac acctagctct
     2341 atcaggctta ggattctttg aacttatttc cactttaatt tctcagtgga agttaagagg
     2401 ggtgagaaaa caaagaaggg gaaaaactga caactaacaa aaccagcacc acatcgctag
     2461 gtggtgctta ctaattacct tctcaggatt ttcctcagat tgaaaagctt atgaggattt
     2521 cttgggagtc ttaataacct gcctgttagt acagagcttt cctgatgata tttactcttg
     2581 agcacatgtg gttgtaaaac cttaactttc tttctccagg agggtggtga tagaaacaga
     2641 tggtagtatt tatgaactga tgttctcgtg aaatgttgag ggtggggaga aaagacttta
     2701 agggaggaga gccatctatt ttgttcctaa agccacctct cagcagaatc gtcatgtttt
     2761 tctgatgcac cgctctgctt catgcccaag atgacttgcg aggcaatctc aggagctgtg
     2821 gacttaaccg ttgcaaagca cactgtcttt ctcagcgttc tctgcaagtc agtaggtgtt
     2881 agtatggttg caaagttcac tgtctcagca aagttgaact gggctacctc tctacagctg
     2941 tttcctcaga gggaaaaatc ttgagaccag atggtggagc tctggagtca gaggaaatgg
     3001 gtgtcttcag cacaaagctg ctgcttttac ttcagccact tctgacattt ttacataccg
     3061 agcctgagat tgtgtgatta tctcaaatca aatcactttg atggagataa ataatcaaaa
     3121 ctgttttata gtcattgatt tggtgagaac agtaatggaa aatggtgttg aaggacttct
     3181 catttttgga gctttccttc cagagtcctg gctgattggt gttcgctgtt catctgagcc
     3241 cccaaaagca ttattactga tacttgcaca cagtcaaaag cgcagactgg atggatggtc
     3301 ttttataagg catttaaggg tacactactg tgtttcactg accatacatt tttcttagcc
     3361 cctcaagtaa tatagcacag agttatgaat gacaattccc ctaaccattc ctcttcatat
     3421 ctgcctcttc cccttaccat cgtaattctc caaactggtc ataaaggcac tctgtgaaga
     3481 tattggggac tgacatctta agctctcacc tggctgcagt aggaaaggcc aaactgacga
     3541 caaaaaaaaa attctttata aagatgatat ggtaacatgt atctttgccc tgggtctggg
     3601 tgggtccagt cagtctcaga tttacaagca tttaggagcc taggtaaaag ctgctagtat
     3661 tcttttaaaa gttatattta tgacttgcaa tgatagaaaa ctccttccaa ttaaatggca
     3721 ttttataata ttatgtgtgt acttcacagt gttaaaaata ccctcatacg ttattgcatt
     3781 tgatcttcac agaaagtgca ttttaaccag tactctgggt gcaataaata atatgtagaa
     3841 atttaagtcc tccaattcca gcatatccag tgagttttga cagtgtgttt atgtggaatg
     3901 tttaaggata tacaattgta ctttatataa attggttctt gttcttctta aatgtgacat
     3961 gaaataattg tgctgctaca ttatactgga aattaacagg ggaaaaggga agagctcttg
     4021 gctcccttga ggttctgcta gtggtgttag gagtggttac aactgagctt ttagtaacca
     4081 tttaaccgta tgtaaacttg gtttctaatt aaaaaaaaat ttctttttcc aa
//
LOCUS       NM_000618               7277 bp    mRNA    linear   PRI 30-SEP-2023
DEFINITION  Homo sapiens insulin like growth factor 1 (IGF1), transcript variant
            4, mRNA.
ACCESSION   NM_000618
VERSION     NM_000618.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7277)
  AUTHORS   Shapiro MR, Peters LD, Brown ME, Cabello-Kindelan C, Posgai AL,
            Bayer AL and Brusko TM.
  TITLE     Insulin-like Growth Factor-1 Synergizes with IL-2 to Induce
            Homeostatic Proliferation of Regulatory T Cells
  JOURNAL   J Immunol 211 (7), 1108-1122 (2023)
   PUBMED   37594278
  REMARK    GeneRIF: Insulin-like Growth Factor-1 Synergizes with IL-2 to Induce
            Homeostatic Proliferation of Regulatory T Cells.
REFERENCE   2  (bases 1 to 7277)
  AUTHORS   Yu Z, Wang H and You G.
  TITLE     The regulation of human organic anion transporter 4 by insulin-like
            growth factor 1 and protein kinase B signaling
  JOURNAL   Biochem Pharmacol 215, 115702 (2023)
   PUBMED   37487877
  REMARK    GeneRIF: The regulation of human organic anion transporter 4 by
            insulin-like growth factor 1 and protein kinase B signaling.
REFERENCE   3  (bases 1 to 7277)
  AUTHORS   van Schaik J, van Roessel IMAA, Bos ID, Claashen-van der Grinten HL,
            Clement SC, van Iersel L, Bakker B, Meijer L, Kremer L, Schouten-van
            Meeteren AYN and van Santen HM.
  TITLE     Elevated IGF-1 concentrations in children with low grade glioma: A
            descriptive analysis in a retrospective national cohort
  JOURNAL   J Neuroendocrinol 35 (8), e13317 (2023)
   PUBMED   37439273
  REMARK    GeneRIF: Elevated IGF-1 concentrations in children with low grade
            glioma: A descriptive analysis in a retrospective national cohort.
REFERENCE   4  (bases 1 to 7277)
  AUTHORS   Ma L, Zhao W, Huang S, Xu F, Wang Y, Deng D, Zhang T, Shu S and Chen
            X.
  TITLE     IGF/IGF-1R signal pathway in pain: a promising therapeutic target
  JOURNAL   Int J Biol Sci 19 (11), 3472-3482 (2023)
   PUBMED   37497005
  REMARK    GeneRIF: IGF/IGF-1R signal pathway in pain: a promising therapeutic
            target. Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 7277)
  AUTHORS   Li K, Sun Y, Liu S, Zhou Y, Qu Q, Wang G, Wang J, Chen R, Fan Z, Liu
            B, Li Y, Mao X, Hu Z and Miao Y.
  TITLE     The AR/miR-221/IGF-1 pathway mediates the pathogenesis of
            androgenetic alopecia
  JOURNAL   Int J Biol Sci 19 (11), 3307-3323 (2023)
   PUBMED   37496996
  REMARK    GeneRIF: The AR/miR-221/IGF-1 pathway mediates the pathogenesis of
            androgenetic alopecia. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 7277)
  AUTHORS   Sato A, Nishimura S, Ohkubo T, Kyogoku Y, Koyama S, Kobayashi M,
            Yasuda T and Kobayashi Y.
  TITLE     1H-NMR assignment and secondary structure of human insulin-like
            growth factor-I (IGF-I) in solution
  JOURNAL   J Biochem 111 (4), 529-536 (1992)
   PUBMED   1319992
REFERENCE   7  (bases 1 to 7277)
  AUTHORS   Ding L, Becker AB, Suzuki A and Roth RA.
  TITLE     Comparison of the enzymatic and biochemical properties of human
            insulin-degrading enzyme and Escherichia coli protease III
  JOURNAL   J Biol Chem 267 (4), 2414-2420 (1992)
   PUBMED   1733942
REFERENCE   8  (bases 1 to 7277)
  AUTHORS   Antoniades HN, Galanopoulos T, Neville-Golden J and Maxwell M.
  TITLE     Expression of insulin-like growth factors I and II and their
            receptor mRNAs in primary human astrocytomas and meningiomas; in
            vivo studies using in situ hybridization and immunocytochemistry
  JOURNAL   Int J Cancer 50 (2), 215-222 (1992)
   PUBMED   1370435
REFERENCE   9  (bases 1 to 7277)
  AUTHORS   Sandberg-Nordqvist AC, Stahlbom PA, Lake M and Sara VR.
  TITLE     Characterization of two cDNAs encoding insulin-like growth factor 1
            (IGF-1) in the human fetal brain
  JOURNAL   Brain Res Mol Brain Res 12 (1-3), 275-277 (1992)
   PUBMED   1372070
REFERENCE   10  (bases 1 to 7277)
  AUTHORS   Rinderknecht,E. and Humbel,R.E.
  TITLE     The amino acid sequence of human insulin-like growth factor I and
            its structural homology with proinsulin
  JOURNAL   J Biol Chem 253 (8), 2769-2776 (1978)
   PUBMED   632300
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X57025.1, AB209184.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2153307,
            SAMEA2153932 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000337514.11/ ENSP00000337612.7
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB209184.1 and AC010202.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000618.4.
            Summary: The protein encoded by this gene is similar to insulin in
            function and structure and is a member of a family of proteins
            involved in mediating growth and development. The encoded protein
            is processed from a precursor, bound by a specific receptor, and
            secreted. Defects in this gene are a cause of insulin-like growth
            factor I deficiency. Alternative splicing results in multiple
            transcript variants encoding different isoforms that may undergo
            similar processing to generate mature protein. [provided by RefSeq,
            Sep 2015].
            Transcript Variant: This variant (4) lacks an alternate
            frame-shifting exon in the 3' coding region, compared to variant 1,
            resulting in a protein (isoform 4) with a novel C-terminus,
            compared to isoform 1. This isoform is also known as IA. Variants 4
            and 7 both encode the same isoform (4).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7277
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.2"
     gene            1..7277
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
                     /note="insulin like growth factor 1"
                     /db_xref="GeneID:3479"
                     /db_xref="HGNC:HGNC:5464"
                     /db_xref="MIM:147440"
     misc_feature    87..89
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
                     /note="upstream in-frame stop codon"
     CDS             183..644
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
                     /note="isoform 4 preproprotein is encoded by transcript
                     variant 4; insulin-like growth factor IB; somatomedin-C;
                     mechano growth factor; insulin-like growth factor 1
                     (somatomedin C)"
                     /codon_start=1
                     /product="insulin-like growth factor I isoform 4
                     preproprotein"
                     /protein_id="NP_000609.1"
                     /db_xref="CCDS:CCDS9091.1"
                     /db_xref="GeneID:3479"
                     /db_xref="HGNC:HGNC:5464"
                     /db_xref="MIM:147440"
                     /translation="MGKISSLPTQLFKCCFCDFLKVKMHTMSSSHLFYLALCLLTFTSS
                     ATAGPETLCGAELVDALQFVCGDRGFYFNKPTGYGSSSRRAPQTGIVDECCFRSCDLRR
                     LEMYCAPLKPAKSARSVRAQRHTDMPKTQKEVHLKNASRGSAGNKNYRM"
     sig_peptide     183..245
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P05019.1)"
     mat_peptide     327..536
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
                     /product="Insulin-like growth factor I. /id=PRO_0000015664"
                     /note="propagated from UniProtKB/Swiss-Prot (P05019.1)"
     misc_feature    327..413
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
                     /note="propagated from UniProtKB/Swiss-Prot (P05019.1);
                     Region: B"
     misc_feature    414..449
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
                     /note="propagated from UniProtKB/Swiss-Prot (P05019.1);
                     Region: C"
     misc_feature    450..512
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
                     /note="propagated from UniProtKB/Swiss-Prot (P05019.1);
                     Region: A"
     misc_feature    513..536
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
                     /note="propagated from UniProtKB/Swiss-Prot (P05019.1);
                     Region: D"
     regulatory      782..787
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
                     /note="hexamer: AATACA"
     polyA_site      803
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
                     /note="major polyA site"
     regulatory      7221..7226
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
                     /note="hexamer: AATAAA"
     regulatory      7253..7258
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
                     /note="hexamer: ATTAAA"
     polyA_site      7259
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
                     /note="major polyA site"
     polyA_site      7277
                     /gene="IGF1"
                     /gene_synonym="IGF; IGF-I; IGFI; MGF"
ORIGIN
        1 cttctgtttg ctaaatctca ctgtcactgc taaattcaga gcagatagag cctgcgcaat
       61 ggaataaagt cctcaaaatt gaaatgtgac attgctctca acatctccca tctctctgga
      121 tttctttttg cttcattatt cctgctaacc aattcatttt cagactttgt acttcagaag
      181 caatgggaaa aatcagcagt cttccaaccc aattatttaa gtgctgcttt tgtgatttct
      241 tgaaggtgaa gatgcacacc atgtcctcct cgcatctctt ctacctggcg ctgtgcctgc
      301 tcaccttcac cagctctgcc acggctggac cggagacgct ctgcggggct gagctggtgg
      361 atgctcttca gttcgtgtgt ggagacaggg gcttttattt caacaagccc acagggtatg
      421 gctccagcag tcggagggcg cctcagacag gcatcgtgga tgagtgctgc ttccggagct
      481 gtgatctaag gaggctggag atgtattgcg cacccctcaa gcctgccaag tcagctcgct
      541 ctgtccgtgc ccagcgccac accgacatgc ccaagaccca gaaggaagta catttgaaga
      601 acgcaagtag agggagtgca ggaaacaaga actacaggat gtaggaagac cctcctgagg
      661 agtgaagagt gacatgccac cgcaggatcc tttgctctgc acgagttacc tgttaaactt
      721 tggaacacct accaaaaaat aagtttgata acatttaaaa gatgggcgtt tcccccaatg
      781 aaatacacaa gtaaacattc caacattgtc tttaggagtg atttgcacct tgcaaaaatg
      841 gtcctggagt tggtagattg ctgttgatct tttatcaata atgttctata gaaaagaaaa
      901 aaaaaatata tatatatata tatcttagtc cctgcctctc aagagccaca aatgcatggg
      961 tgttgtatag atccagttgc actaaattcc tctctgaatc ttggctgctg gagccattca
     1021 ttcagcaacc ttgtctaagt ggtttatgaa ttgtttcctt atttgcactt ctttctacac
     1081 aactcgggct gtttgtttta cagtgtctga taatcttgtt agtctatacc caccacctcc
     1141 cttcataacc tttatatttg ccgaatttgg cctcctcaaa agcagcagca agtcgtcaag
     1201 aagcacacca attctaaccc acaagattcc atctgtggca tttgtaccaa atataagttg
     1261 gatgcatttt attttagaca caaagcttta tttttccaca tcatgcttac aaaaaagaat
     1321 aatgcaaata gttgcaactt tgaggccaat catttttagg catatgtttt aaacatagaa
     1381 agtttcttca actcaaaaga gttccttcaa atgatgagtt aatgtgcaac ctaattagta
     1441 actttcctct ttttattttt tccatataga gcactatgta aatttagcat atcaattata
     1501 caggatatat caaacagtat gtaaaactct gttttttagt ataatggtgc tattttgtag
     1561 tttgttatat gaaagagtct ggccaaaacg gtaatacgtg aaagcaaaac aataggggaa
     1621 gcctggagcc aaagatgaca caaggggaag ggtactgaaa acaccatcca tttgggaaag
     1681 aaggcaaagt ccccccagtt atgccttcca agaggaactt cagacacaaa agtccactga
     1741 tgcaaattgg actggcgagt ccagagagga aactgtggaa tggaaaaagc agaaggctag
     1801 gaattttagc agtcctggtt tctttttctc atggaagaaa tgaacatctg ccagctgtgt
     1861 catggactca ccactgtgtg accttgggca agtcacttca cctctctgtg cctcagtttc
     1921 ctcatctgca aaatgggggc aatatgtcat ctacctacct caaaggggtg gtataaggtt
     1981 taaaaagata aagattcaga ttttttttac cctgggttgc tgtaagggtg caacatcagg
     2041 gcgcttgagt tgctgagatg caaggaattc tataaataac ccattcatag catagctaga
     2101 gattggtgaa ttgaatgctc ctgacatctc agttcttgtc agtgaagcta tccaaataac
     2161 tggccaacta gttgttaaaa gctaacagct caatctctta aaacactttt caaaatatgt
     2221 gggaagcatt tgattttcaa tttgattttg aattctgcat ttggttttat gaatacaaag
     2281 ataagtgaaa agagagaaag gaaaagaaaa aggagaaaaa caaagagatt tctaccagtg
     2341 aaaggggaat taattactct ttgttagcac tcactgactc ttctatgcag ttactacata
     2401 tctagtaaaa cctcgtttaa tactataaat aatattctat tcattttgaa aaacacaatg
     2461 attccttctt ttctaggcaa tataaggaaa gtgatccaaa atttgaaata ttaaaataat
     2521 atctaataaa aagtcacaaa gttatcttct ttaacaaact ttactcttat tcttagctgt
     2581 atatacattt ttttaaaagt ttgttaaaat atgcttgact agagtttcca gttgaaaggc
     2641 aaaaacttcc atcacaacaa gaaatttccc atgcctgctc agaagggtag cccctagctc
     2701 tctgtgaatg tgttttatcc attcaactga aaattggtat caagaaagtc cactggttag
     2761 tgtactagtc catcatagcc tagaaaatga tccctatctg cagatcaaga ttttctcatt
     2821 agaacaatga attatccagc attcagatct ttctagtcac cttagaactt tttggttaaa
     2881 agtacccagg cttgattatt tcatgcaaat tctatatttt acattcttgg aaagtctata
     2941 tgaaaaacaa aaataacatc ttcagttttt ctcccactgg gtcacctcaa ggatcagagg
     3001 ccaggaaaaa aaaaaaaaag actccctgga tctctgaata tatgcaaaaa gaaggcccca
     3061 tttagtggag ccagcaatcc tgttcagtca acaagtattt taactctcag tccaacatta
     3121 tttgaattga gcacctcaag catgcttagc aatgttctaa tcactatgga cagatgtaaa
     3181 agaaactata catcattttt gccctctgcc tgttttccag acatacaggt tctgtggaat
     3241 aagatactgg actcctcttc ccaagatggc acttcttttt atttcttgtc cccagtgtgt
     3301 accttttaaa attattccct ctcaacaaaa ctttataggc agtcttctgc agacttaacg
     3361 tgttttctgt catagttaga tgtgataatt ctaagagtgt ctatgactta tttccttcac
     3421 ttaattctat ccacagtcaa aaatccccca aggaggaaag ctgaaagatg cactgccata
     3481 ttatctttct taactttttc caacacataa tcctctccaa ctggattata aataaattga
     3541 aaataactca ttataccaat tcactatttt attttttaat gaattaaaac tagaaaacaa
     3601 attgatgcaa accctggaag tcagttgatt actatatact acagcagaat gactcagatt
     3661 tcatagaaag gagcaaccaa aatgtcacaa cccaaaactt tacaagcttt gcttcagaat
     3721 tagattgctt tataattctt gaatgaggca atttcaagat atttgtaaaa gaacagtaaa
     3781 cattggtaag aatgagcttt caactcatag gcttatttcc aatttaattg accatactgg
     3841 atacttaggt caaatttctg ttctctcttc cccaaataat attaaagtat tatttgaact
     3901 ttttaagatg aggcagttcc cctgaaaaag ttaatgcagc tctccatcag aatccactct
     3961 tctagggata tgaaaatctc ttaacaccca ccctacatac acagacacac acacacacac
     4021 acacacacac acacacacac acattcaccc taaggatcca atggaatact gaaaagaaat
     4081 cacttccttg aaaattttat taaaaaacaa acaaacaaac aaaaagcctg tccacccttg
     4141 agaatccttc ctctccttgg aacgtcaatg tttgtgtaga tgaaaccatc tcatgctctg
     4201 tggctccagg gtttctgtta ctattttatg cacttgggag aaggcttaga ataaaagatg
     4261 tagcacattt tgctttccca tttattgttt ggccagctat gccaatgtgg tgctattgtt
     4321 tctttaagaa agtacttgac taaaaaaaaa agaaaaaaag aaaaaaaaga aagcatagac
     4381 atattttttt aaagtataaa aacaacaatt ctatagatag atggcttaat aaaatagcat
     4441 taggtctatc tagccaccac cacctttcaa ctttttatca ctcacaagta gtgtactgtt
     4501 caccaaattg tgaatttggg ggtgcagggg caggagttgg aaatttttta aagttagaag
     4561 gctccattgt tttgttggct ctcaaactta gcaaaattag caatatatta tccaatcttc
     4621 tgaacttgat caagagcatg gagaataaac gcgggaaaaa agatcttata ggcaaataga
     4681 agaatttaaa agataagtaa gttccttatt gatttttgtg cactctgctc taaaacagat
     4741 attcagcaag tggagaaaat aagaacaaag agaaaaaata catagattta cctgcaaaaa
     4801 atagcttctg ccaaatcccc cttgggtatt ctttggcatt tactggttta tagaagacat
     4861 tctcccttca cccagacatc tcaaagagca gtagctctca tgaaaagcaa tcactgatct
     4921 catttgggaa atgttggaaa gtatttcctt atgagatggg ggttatctac tgataaagaa
     4981 agaatttatg agaaattgtt gaaagagatg gctaacaatc tgtgaagatt ttttgtttct
     5041 tgtttttgtt tttttttttt ttttacttta tacagtcttt atgaatttct taatgttcaa
     5101 aatgacttgg ttcttttctt ctttttttat atcagaatga ggaataataa gttaaaccca
     5161 catagactct ttaaaactat aggctagata gaaatgtatg tttgacttgt tgaagctata
     5221 atcagactat ttaaaatgtt ttgctatttt taatcttaaa agattgtgct aatttattag
     5281 agcagaacct gtttggctct cctcagaaga aagaatcttt ccattcaaat cacatggctt
     5341 tccaccaata ttttcaaaag ataaatctga tttatgcaat ggcatcattt attttaaaac
     5401 agaagaattg tgaaagttta tgcccctccc ttgcaaagac cataaagtcc agatctggta
     5461 ggggggcaac aacaaaagga aaatgttgtt gattcttggt tttggatttt gttttgtttt
     5521 caatgctagt gtttaatcct gtagtacata tttgcttatt gctattttaa tattttataa
     5581 gaccttcctg ttaggtatta gaaagtgata catagatatc ttttttgtgt aatttctatt
     5641 taaaaaagag agaagactgt cagaagcttt aagtgcatat ggtacaggat aaagatatca
     5701 atttaaataa ccaattccta tctggaacaa tgcttttgtt ttttaaagaa acctctcaca
     5761 gataagacag aggcccaggg gatttttgaa gctgtcttta ttctgccccc atcccaaccc
     5821 agcccttatt attttagtat ctgcctcaga attttataga gggctgacca agctgaaact
     5881 ctagaattaa aggaacctca ctgaaaacat atatttcacg tgttccctct tttttttttt
     5941 cctttttgtg agatggggtc tcgcactgtc ccccaggctg gagtgcagtg gcatgatctc
     6001 ggctcactgc aacctccacc tcctgggttt aagcgattct cctgcctcag cctcctgagt
     6061 agctgggatt acaggcaccc accactatgc ccggctaatt ttttggattt ttaatagaga
     6121 cggggtttta ccatgttggc caggttggtc tcaaactcct gaccttgtga tttgcccgcc
     6181 tcagcctccc aaattgctgg gattacaggc atgagccacc acaccctgcc catgtgttcc
     6241 ctcttaatgt atgattacat ggatcttaaa catgatcctt ctctcctcat tcttcaacta
     6301 tctttgatgg ggtctttcaa ggggaaaaaa atccaagctt ttttaaagta aaaaaaaaaa
     6361 aagagaggac acaaaaccaa atgttactgc tcaactgaaa tatgagttaa gatggagaca
     6421 gagtttctcc taataaccgg agctgaatta cctttcactt tcaaaaacat gaccttccac
     6481 aatccttaga atctgccttt ttttatatta ctgaggccta aaagtaaaca ttactcattt
     6541 tattttgccc aaaatgcact gatgtaaagt aggaaaaata aaaacagagc tctaaaatcc
     6601 ctttcaagcc acccattgac cccactcacc aactcatagc aaagtcactt ctgttaatcc
     6661 cttaatctga ttttgtttgg atatttatct tgtacccgct gctaaacaca ctgcaggagg
     6721 gactctgaaa cctcaagctg tctacttaca tcttttatct gtgtctgtgt atcatgaaaa
     6781 tgtctattca aaatatcaaa acctttcaaa tatcacgcag cttatattca gtttacataa
     6841 aggccccaaa taccatgtca gatctttttg gtaaaagagt taatgaacta tgagaattgg
     6901 gattacatca tgtattttgc ctcatgtatt tttatcacac ttataggcca agtgtgataa
     6961 ataaacttac agacactgaa ttaatttccc ctgctacttt gaaaccagaa aataatgact
     7021 ggccattcgt tacatctgtc ttagttgaaa agcatatttt ttattaaatt aattctgatt
     7081 gtatttgaaa ttattattca attcacttat ggcagaggaa tatcaatcct aatgacttct
     7141 aaaaatgtaa ctaattgaat cattatctta catttactgt ttaataagca tattttgaaa
     7201 atgtatggct agagtgtcat aataaaatgg tatatctttc tttagtaatt acattaaaat
     7261 tagtcatgtt tgattaa
//
LOCUS       NM_000619               1211 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens interferon gamma (IFNG), mRNA.
ACCESSION   NM_000619
VERSION     NM_000619.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1211)
  AUTHORS   Centofanti E, Wang C, Iyer S, Krichevsky O, Oyler-Yaniv A and
            Oyler-Yaniv J.
  TITLE     The spread of interferon-gamma in melanomas is highly spatially
            confined, driving nongenetic variability in tumor cells
  JOURNAL   Proc Natl Acad Sci U S A 120 (35), e2304190120 (2023)
   PUBMED   37603742
  REMARK    GeneRIF: The spread of interferon-gamma in melanomas is highly
            spatially confined, driving nongenetic variability in tumor cells.
REFERENCE   2  (bases 1 to 1211)
  AUTHORS   Xing E, Ma F, Wasikowski R, Billi AC, Gharaee-Kermani M, Fox J,
            Dobry C, Victory A, Sarkar MK, Xing X, Plazyo O, Chen HW, Barber G,
            Jacobe H, Tsou PS, Modlin RL, Varga J, Kahlenberg JM, Tsoi LC,
            Gudjonsson JE and Khanna D.
  TITLE     Pansclerotic morphea is characterized by IFN-gamma responses priming
            dendritic cell fibroblast crosstalk to promote fibrosis
  JOURNAL   JCI Insight 8 (16), e171307 (2023)
   PUBMED   37471168
  REMARK    GeneRIF: Pansclerotic morphea is characterized by IFN-gamma
            responses priming dendritic cell fibroblast crosstalk to promote
            fibrosis. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1211)
  AUTHORS   Yoon J, Lee SK, Park A, Lee J, Jung I, Song KB, Choi EJ, Kim S and
            Yu J.
  TITLE     Exosome from IFN-gamma-Primed Induced Pluripotent Stem Cell-Derived
            Mesenchymal Stem Cells Improved Skin Inflammation and Barrier
            Function
  JOURNAL   Int J Mol Sci 24 (14), 11635 (2023)
   PUBMED   37511392
  REMARK    GeneRIF: Exosome from IFN-gamma-Primed Induced Pluripotent Stem
            Cell-Derived Mesenchymal Stem Cells Improved Skin Inflammation and
            Barrier Function. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1211)
  AUTHORS   Rahimi Khorashad M, Ghoryani M, Gowhari Shabgah A, Shariati-Sarabi
            Z, Tavakkol Afshari J and Mohammadi M.
  TITLE     The Effects of Mesenchymal Stem Cells on the Gene Expression of
            TGF-beta and IFN-gamma in Patients with Rheumatoid Arthritis
  JOURNAL   Iran J Allergy Asthma Immunol 22 (2), 183-189 (2023)
   PUBMED   37496411
  REMARK    GeneRIF: The Effects of Mesenchymal Stem Cells on the Gene
            Expression of TGF-beta and IFN-gamma in Patients with Rheumatoid
            Arthritis. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1211)
  AUTHORS   Walter MR, Windsor WT, Nagabhushan TL, Lundell DJ, Lunn CA, Zauodny
            PJ and Narula SK.
  TITLE     Crystal structure of a complex between interferon-gamma and its
            soluble high-affinity receptor
  JOURNAL   Nature 376 (6537), 230-235 (1995)
   PUBMED   7617032
REFERENCE   6  (bases 1 to 1211)
  AUTHORS   Emilie D, Maillot MC, Nicolas JF, Fior R and Galanaud P.
  TITLE     Antagonistic effect of interferon-gamma on tat-induced
            transactivation of HIV long terminal repeat
  JOURNAL   J Biol Chem 267 (29), 20565-20570 (1992)
   PUBMED   1400376
REFERENCE   7  (bases 1 to 1211)
  AUTHORS   Grzesiek S, Dobeli H, Gentz R, Garotta G, Labhardt AM and Bax A.
  TITLE     1H, 13C, and 15N NMR backbone assignments and secondary structure of
            human interferon-gamma
  JOURNAL   Biochemistry 31 (35), 8180-8190 (1992)
   PUBMED   1525157
REFERENCE   8  (bases 1 to 1211)
  AUTHORS   Slodowski O, Bohm J, Schone B and Otto B.
  TITLE     Carboxy-terminal truncated rhuIFN-gamma with a substitution of
            Gln133 or Ser132 to leucine leads to higher biological activity than
            in the wild type
  JOURNAL   Eur J Biochem 202 (3), 1133-1140 (1991)
   PUBMED   1662603
REFERENCE   9  (bases 1 to 1211)
  AUTHORS   Gray,P.W. and Goeddel,D.V.
  TITLE     Structure of the human immune interferon gene
  JOURNAL   Nature 298 (5877), 859-863 (1982)
   PUBMED   6180322
REFERENCE   10  (bases 1 to 1211)
  AUTHORS   Devos,R., Cheroutre,H., Taya,Y., Degrave,W., Van Heuverswyn,H. and
            Fiers,W.
  TITLE     Molecular cloning of human immune interferon cDNA and its expression
            in eukaryotic cells
  JOURNAL   Nucleic Acids Res 10 (8), 2487-2501 (1982)
   PUBMED   6176945
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC070256.1, SRR1163655.241293.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2154529
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in cytokine storm inflammatory
            response
            MANE Ensembl match          :: ENST00000229135.4/ ENSP00000229135.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC070256.1, V00543.1 and
            AC007458.14.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000619.2.
            Summary: This gene encodes a soluble cytokine that is a member of
            the type II interferon class. The encoded protein is secreted by
            cells of both the innate and adaptive immune systems. The active
            protein is a homodimer that binds to the interferon gamma receptor
            which triggers a cellular response to viral and microbial
            infections. Mutations in this gene are associated with an increased
            susceptibility to viral, bacterial and parasitic infections and to
            several autoimmune diseases. [provided by RefSeq, Dec 2015].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1211
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q15"
     gene            1..1211
                     /gene="IFNG"
                     /gene_synonym="IFG; IFI; IMD69"
                     /note="interferon gamma"
                     /db_xref="GeneID:3458"
                     /db_xref="HGNC:HGNC:5438"
                     /db_xref="MIM:147570"
     misc_feature    18..20
                     /gene="IFNG"
                     /gene_synonym="IFG; IFI; IMD69"
                     /note="upstream in-frame stop codon"
     CDS             126..626
                     /gene="IFNG"
                     /gene_synonym="IFG; IFI; IMD69"
                     /note="IFN-gamma; immune interferon"
                     /codon_start=1
                     /product="interferon gamma precursor"
                     /protein_id="NP_000610.2"
                     /db_xref="CCDS:CCDS8980.1"
                     /db_xref="GeneID:3458"
                     /db_xref="HGNC:HGNC:5438"
                     /db_xref="MIM:147570"
                     /translation="MKYTSYILAFQLCIVLGSLGCYCQDPYVKEAENLKKYFNAGHSDV
                     ADNGTLFLGILKNWKEESDRKIMQSQIVSFYFKLFKNFKDDQSIQKSVETIKEDMNVKF
                     FNSNKKKRDDFEKLTNYSVTDLNVQRKAIHELIQVMAELSPAAKTGKRKRSQMLFRGRR
                     ASQ"
     sig_peptide     126..194
                     /gene="IFNG"
                     /gene_synonym="IFG; IFI; IMD69"
                     /note="/evidence=ECO:0000269|PubMed:3109913,
                     ECO:0000269|PubMed:6427223; propagated from
                     UniProtKB/Swiss-Prot (P01579.1)"
     mat_peptide     195..608
                     /gene="IFNG"
                     /gene_synonym="IFG; IFI; IMD69"
                     /product="Interferon gamma. /id=PRO_0000016444"
                     /note="propagated from UniProtKB/Swiss-Prot (P01579.1)"
     misc_feature    195..197
                     /gene="IFNG"
                     /gene_synonym="IFG; IFI; IMD69"
                     /note="Pyrrolidone carboxylic acid.
                     /evidence=ECO:0000269|PubMed:3109913,
                     ECO:0000269|PubMed:6427223; propagated from
                     UniProtKB/Swiss-Prot (P01579.1);
                     pyrrolidone-carboxylic-acid site"
     misc_feature    267..269
                     /gene="IFNG"
                     /gene_synonym="IFG; IFI; IMD69"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:6427223; propagated from
                     UniProtKB/Swiss-Prot (P01579.1); glycosylation site"
     misc_feature    483..485
                     /gene="IFNG"
                     /gene_synonym="IFG; IFI; IMD69"
                     /note="N-linked (GlcNAc...) asparagine, in dimeric form.
                     /evidence=ECO:0000269|PubMed:6427223; propagated from
                     UniProtKB/Swiss-Prot (P01579.1); glycosylation site"
     misc_feature    564..623
                     /gene="IFNG"
                     /gene_synonym="IFG; IFI; IMD69"
                     /note="propagated from UniProtKB/Swiss-Prot (P01579.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1189..1194
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFNG"
                     /gene_synonym="IFG; IFI; IMD69"
                     /note="hexamer: AATAAA"
     polyA_site      1211
                     /gene="IFNG"
                     /gene_synonym="IFG; IFI; IMD69"
                     /note="major polyA site"
ORIGIN
        1 acattgttct gatcatctga agatcagcta ttagaagaga aagatcagtt aagtcctttg
       61 gacctgatca gcttgataca agaactactg atttcaactt ctttggctta attctctcgg
      121 aaacgatgaa atatacaagt tatatcttgg cttttcagct ctgcatcgtt ttgggttctc
      181 ttggctgtta ctgccaggac ccatatgtaa aagaagcaga aaaccttaag aaatatttta
      241 atgcaggtca ttcagatgta gcggataatg gaactctttt cttaggcatt ttgaagaatt
      301 ggaaagagga gagtgacaga aaaataatgc agagccaaat tgtctccttt tacttcaaac
      361 tttttaaaaa ctttaaagat gaccagagca tccaaaagag tgtggagacc atcaaggaag
      421 acatgaatgt caagtttttc aatagcaaca aaaagaaacg agatgacttc gaaaagctga
      481 ctaattattc ggtaactgac ttgaatgtcc aacgcaaagc aatacatgaa ctcatccaag
      541 tgatggctga actgtcgcca gcagctaaaa cagggaagcg aaaaaggagt cagatgctgt
      601 ttcgaggtcg aagagcatcc cagtaatggt tgtcctgcct gcaatatttg aattttaaat
      661 ctaaatctat ttattaatat ttaacattat ttatatgggg aatatatttt tagactcatc
      721 aatcaaataa gtatttataa tagcaacttt tgtgtaatga aaatgaatat ctattaatat
      781 atgtattatt tataattcct atatcctgtg actgtctcac ttaatccttt gttttctgac
      841 taattaggca aggctatgtg attacaaggc tttatctcag gggccaacta ggcagccaac
      901 ctaagcaaga tcccatgggt tgtgtgttta tttcacttga tgatacaatg aacacttata
      961 agtgaagtga tactatccag ttactgccgg tttgaaaata tgcctgcaat ctgagccagt
     1021 gctttaatgg catgtcagac agaacttgaa tgtgtcaggt gaccctgatg aaaacatagc
     1081 atctcaggag atttcatgcc tggtgcttcc aaatattgtt gacaactgtg actgtaccca
     1141 aatggaaagt aactcatttg ttaaaattat caatatctaa tatatatgaa taaagtgtaa
     1201 gttcacaact a
//
LOCUS       NM_000620              12007 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens nitric oxide synthase 1 (NOS1), transcript variant 1,
            mRNA.
ACCESSION   NM_000620
VERSION     NM_000620.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 12007)
  AUTHORS   Biojone C, C Casarotto P, Cannarozzo C, Fred SM, Herrera-Rodriguez
            R, Lesnikova A, Voipio M and Castren E.
  TITLE     nNOS-induced tyrosine nitration of TRKB impairs BDNF signaling and
            restrains neuronal plasticity
  JOURNAL   Prog Neurobiol 222, 102413 (2023)
   PUBMED   36682419
  REMARK    GeneRIF: nNOS-induced tyrosine nitration of TRKB impairs BDNF
            signaling and restrains neuronal plasticity.
REFERENCE   2  (bases 1 to 12007)
  AUTHORS   Liu R, Juncos LA, Lu Y, Wei J, Zhang J, Wang L, Lai EY, Carlstrom M
            and Persson AEG.
  TITLE     The Role of Macula Densa Nitric Oxide Synthase 1 Beta Splice Variant
            in Modulating Tubuloglomerular Feedback
  JOURNAL   Compr Physiol 13 (1), 4215-4229 (2023)
   PUBMED   36715280
  REMARK    GeneRIF: The Role of Macula Densa Nitric Oxide Synthase 1 Beta
            Splice Variant in Modulating Tubuloglomerular Feedback. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 12007)
  AUTHORS   Chachlaki K, Messina A, Delli V, Leysen V, Maurnyi C, Huber C,
            Ternier G, Skrapits K, Papadakis G, Shruti S, Kapanidou M, Cheng X,
            Acierno J, Rademaker J, Rasika S, Quinton R, Niedziela M, L'Allemand
            D, Pignatelli D, Dirlewander M, Lang-Muritano M, Kempf P,
            Catteau-Jonard S, Niederlander NJ, Ciofi P, Tena-Sempere M,
            Garthwaite J, Storme L, Avan P, Hrabovszky E, Carleton A, Santoni F,
            Giacobini P, Pitteloud N and Prevot V.
  TITLE     NOS1 mutations cause hypogonadotropic hypogonadism with sensory and
            cognitive deficits that can be reversed in infantile mice
  JOURNAL   Sci Transl Med 14 (665), eabh2369 (2022)
   PUBMED   36197968
  REMARK    GeneRIF: NOS1 mutations cause hypogonadotropic hypogonadism with
            sensory and cognitive deficits that can be reversed in infantile
            mice.
REFERENCE   4  (bases 1 to 12007)
  AUTHORS   Boissel JP, Zelenka M, Godtel-Armbrust U, Feuerstein TJ and
            Forstermann U.
  TITLE     Transcription of different exons 1 of the human neuronal nitric
            oxide synthase gene is dynamically regulated in a cell- and
            stimulus-specific manner
  JOURNAL   Biol Chem 384 (3), 351-362 (2003)
   PUBMED   12715886
REFERENCE   5  (bases 1 to 12007)
  AUTHORS   Larsson B and Phillips SC.
  TITLE     Isolation and characterization of a novel, human neuronal nitric
            oxide synthase cDNA
  JOURNAL   Biochem Biophys Res Commun 251 (3), 898-902 (1998)
   PUBMED   9791007
REFERENCE   6  (bases 1 to 12007)
  AUTHORS   Wang Y, Goligorsky MS, Lin M, Wilcox JN and Marsden PA.
  TITLE     A novel, testis-specific mRNA transcript encoding an NH2-terminal
            truncated nitric-oxide synthase
  JOURNAL   J Biol Chem 272 (17), 11392-11401 (1997)
   PUBMED   9111048
REFERENCE   7  (bases 1 to 12007)
  AUTHORS   Kishimoto J, Spurr N, Liao M, Lizhi L, Emson P and Xu W.
  TITLE     Localization of brain nitric oxide synthase (NOS) to human
            chromosome 12
  JOURNAL   Genomics 14 (3), 802-804 (1992)
   PUBMED   1385308
  REMARK    Erratum:[Genomics 1993 Feb;15(2):465]
REFERENCE   8  (bases 1 to 12007)
  AUTHORS   Lowenstein CJ, Glatt CS, Bredt DS and Snyder SH.
  TITLE     Cloned and expressed macrophage nitric oxide synthase contrasts with
            the brain enzyme
  JOURNAL   Proc Natl Acad Sci U S A 89 (15), 6711-6715 (1992)
   PUBMED   1379716
REFERENCE   9  (bases 1 to 12007)
  AUTHORS   Bredt DS, Ferris CD and Snyder SH.
  TITLE     Nitric oxide synthase regulatory sites. Phosphorylation by cyclic
            AMP-dependent protein kinase, protein kinase C, and
            calcium/calmodulin protein kinase; identification of flavin and
            calmodulin binding sites
  JOURNAL   J Biol Chem 267 (16), 10976-10981 (1992)
   PUBMED   1375933
REFERENCE   10  (bases 1 to 12007)
  AUTHORS   Bredt DS and Snyder SH.
  TITLE     Isolation of nitric oxide synthetase, a calmodulin-requiring enzyme
  JOURNAL   Proc Natl Acad Sci U S A 87 (2), 682-685 (1990)
   PUBMED   1689048
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: EU753241.1, U17327.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03465402,
            SAMN03465403 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000317775.11/ ENSP00000320758.6
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U17327.1, AK294435.1,
            AK307481.1, BC033208.1, AC026364.36 and BE207961.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000620.4.
            Summary: The protein encoded by this gene belongs to the family of
            nitric oxide synthases, which synthesize nitric oxide from
            L-arginine. Nitric oxide is a reactive free radical, which acts as
            a biologic mediator in several processes, including
            neurotransmission, and antimicrobial and antitumoral activities. In
            the brain and peripheral nervous system, nitric oxide displays many
            properties of a neurotransmitter, and has been implicated in
            neurotoxicity associated with stroke and neurodegenerative
            diseases, neural regulation of smooth muscle, including
            peristalsis, and penile erection. This protein is ubiquitously
            expressed, with high level of expression in skeletal muscle.
            Multiple transcript variants that differ in the 5' UTR have been
            described for this gene but the full-length nature of these
            transcripts is not known. Additionally, alternatively spliced
            transcript variants encoding different isoforms (some
            testis-specific) have been found for this gene.[provided by RefSeq,
            Feb 2011].
            Transcript Variant: This variant (1) represents the predominant
            transcript, and encodes isoform 1 (also known as nNOS).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..12007
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.22"
     gene            1..12007
                     /gene="NOS1"
                     /gene_synonym="bNOS; IHPS1; N-NOS; NC-NOS; nNOS; NOS"
                     /note="nitric oxide synthase 1"
                     /db_xref="GeneID:4842"
                     /db_xref="HGNC:HGNC:7872"
                     /db_xref="MIM:163731"
     misc_feature    446..448
                     /gene="NOS1"
                     /gene_synonym="bNOS; IHPS1; N-NOS; NC-NOS; nNOS; NOS"
                     /note="upstream in-frame stop codon"
     CDS             536..4840
                     /gene="NOS1"
                     /gene_synonym="bNOS; IHPS1; N-NOS; NC-NOS; nNOS; NOS"
                     /EC_number="1.14.13.39"
                     /note="isoform 1 is encoded by transcript variant 1; NOS
                     type I; neuronal NOS; constitutive NOS; peptidyl-cysteine
                     S-nitrosylase NOS1; nitric oxide synthase 1 (neuronal)"
                     /codon_start=1
                     /product="nitric oxide synthase 1 isoform 1"
                     /protein_id="NP_000611.1"
                     /db_xref="CCDS:CCDS41842.1"
                     /db_xref="GeneID:4842"
                     /db_xref="HGNC:HGNC:7872"
                     /db_xref="MIM:163731"
                     /translation="MEDHMFGVQQIQPNVISVRLFKRKVGGLGFLVKERVSKPPVIISD
                     LIRGGAAEQSGLIQAGDIILAVNGRPLVDLSYDSALEVLRGIASETHVVLILRGPEGFT
                     THLETTFTGDGTPKTIRVTQPLGPPTKAVDLSHQPPAGKEQPLAVDGASGPGNGPQHAY
                     DDGQEAGSLPHANGLAPRPPGQDPAKKATRVSLQGRGENNELLKEIEPVLSLLTSGSRG
                     VKGGAPAKAEMKDMGIQVDRDLDGKSHKPLPLGVENDRVFNDLWGKGNVPVVLNNPYSE
                     KEQPPTSGKQSPTKNGSPSKCPRFLKVKNWETEVVLTDTLHLKSTLETGCTEYICMGSI
                     MHPSQHARRPEDVRTKGQLFPLAKEFIDQYYSSIKRFGSKAHMERLEEVNKEIDTTSTY
                     QLKDTELIYGAKHAWRNASRCVGRIQWSKLQVFDARDCTTAHGMFNYICNHVKYATNKG
                     NLRSAITIFPQRTDGKHDFRVWNSQLIRYAGYKQPDGSTLGDPANVQFTEICIQQGWKP
                     PRGRFDVLPLLLQANGNDPELFQIPPELVLEVPIRHPKFEWFKDLGLKWYGLPAVSNML
                     LEIGGLEFSACPFSGWYMGTEIGVRDYCDNSRYNILEEVAKKMNLDMRKTSSLWKDQAL
                     VEINIAVLYSFQSDKVTIVDHHSATESFIKHMENEYRCRGGCPADWVWIVPPMSGSITP
                     VFHQEMLNYRLTPSFEYQPDPWNTHVWKGTNGTPTKRRAIGFKKLAEAVKFSAKLMGQA
                     MAKRVKATILYATETGKSQAYAKTLCEIFKHAFDAKVMSMEEYDIVHLEHETLVLVVTS
                     TFGNGDPPENGEKFGCALMEMRHPNSVQEERKSYKVRFNSVSSYSDSQKSSGDGPDLRD
                     NFESAGPLANVRFSVFGLGSRAYPHFCAFGHAVDTLLEELGGERILKMREGDELCGQEE
                     AFRTWAKKVFKAACDVFCVGDDVNIEKANNSLISNDRSWKRNKFRLTFVAEAPELTQGL
                     SNVHKKRVSAARLLSRQNLQSPKSSRSTIFVRLHTNGSQELQYQPGDHLGVFPGNHEDL
                     VNALIERLEDAPPVNQMVKVELLEERNTALGVISNWTDELRLPPCTIFQAFKYYLDITT
                     PPTPLQLQQFASLATSEKEKQRLLVLSKGLQEYEEWKWGKNPTIVEVLEEFPSIQMPAT
                     LLLTQLSLLQPRYYSISSSPDMYPDEVHLTVAIVSYRTRDGEGPIHHGVCSSWLNRIQA
                     DELVPCFVRGAPSFHLPRNPQVPCILVGPGTGIAPFRSFWQQRQFDIQHKGMNPCPMVL
                     VFGCRQSKIDHIYREETLQAKNKGVFRELYTAYSREPDKPKKYVQDILQEQLAESVYRA
                     LKEQGGHIYVCGDVTMAADVLKAIQRIMTQQGKLSAEDAGVFISRMRDDNRYHEDIFGV
                     TLRTYEVTNRLRSESIAFIEESKKDTDEVFSS"
     misc_feature    536..1150
                     /gene="NOS1"
                     /gene_synonym="bNOS; IHPS1; N-NOS; NC-NOS; nNOS; NOS"
                     /note="propagated from UniProtKB/Swiss-Prot (P29475.2);
                     Region: Interaction with NOSIP. /evidence=ECO:0000250"
     misc_feature    869..1111
                     /gene="NOS1"
                     /gene_synonym="bNOS; IHPS1; N-NOS; NC-NOS; nNOS; NOS"
                     /note="propagated from UniProtKB/Swiss-Prot (P29475.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1022..1270
                     /gene="NOS1"
                     /gene_synonym="bNOS; IHPS1; N-NOS; NC-NOS; nNOS; NOS"
                     /note="propagated from UniProtKB/Swiss-Prot (P29475.2);
                     Region: PIN (nNOS-inhibiting protein) binding"
     misc_feature    1361..1441
                     /gene="NOS1"
                     /gene_synonym="bNOS; IHPS1; N-NOS; NC-NOS; nNOS; NOS"
                     /note="propagated from UniProtKB/Swiss-Prot (P29475.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2723..2785
                     /gene="NOS1"
                     /gene_synonym="bNOS; IHPS1; N-NOS; NC-NOS; nNOS; NOS"
                     /note="propagated from UniProtKB/Swiss-Prot (P29475.2);
                     Region: Calmodulin-binding. /evidence=ECO:0000255"
     misc_feature    3089..3091
                     /gene="NOS1"
                     /gene_synonym="bNOS; IHPS1; N-NOS; NC-NOS; nNOS; NOS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P29476; propagated from
                     UniProtKB/Swiss-Prot (P29475.2); phosphorylation site"
     misc_feature    3119..3121
                     /gene="NOS1"
                     /gene_synonym="bNOS; IHPS1; N-NOS; NC-NOS; nNOS; NOS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0J4; propagated from
                     UniProtKB/Swiss-Prot (P29475.2); phosphorylation site"
     misc_feature    3122..3124
                     /gene="NOS1"
                     /gene_synonym="bNOS; IHPS1; N-NOS; NC-NOS; nNOS; NOS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0J4; propagated from
                     UniProtKB/Swiss-Prot (P29475.2); phosphorylation site"
     regulatory      11990..11995
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NOS1"
                     /gene_synonym="bNOS; IHPS1; N-NOS; NC-NOS; nNOS; NOS"
                     /note="hexamer: ATTAAA"
     polyA_site      12007
                     /gene="NOS1"
                     /gene_synonym="bNOS; IHPS1; N-NOS; NC-NOS; nNOS; NOS"
                     /note="major polyA site"
ORIGIN
        1 acggctcagt ccctacatat ttatgccgcg tttccagccg ctgggtgagg agctacttag
       61 cgccgcggct cctccgaggg gcggccgggc agcgagcagc ggccgagcgg acgggctcat
      121 gatgcctcag atctgatccg catctaacag gctggcaatg aagataccca gagaatagtt
      181 cacatctatc atgcgtcact tctagacaca gccatcagac gcatctcctc ccctttctgc
      241 ctgaccttag ggacacgtcc caccgcctct cttgacgtct gcctggtcaa ccatcacttc
      301 cttagagaat aaggagagag gcggatgcag gaaatcatgc caccgacggg ccaccagcca
      361 tgagtgggtg acgctgagct gacgtcaaag acagagaggg ctgaagcctt gtcagcacct
      421 gtcaccccgg ctcctgctct ccgtgtagcc tgaagcctgg atcctcctgg tgaaatcatc
      481 ttggcctgat agcattgtga ggtcttcaga caggacccct cggaagctag ttaccatgga
      541 ggatcacatg ttcggtgttc agcaaatcca gcccaatgtc atttctgttc gtctcttcaa
      601 gcgcaaagtt gggggcctgg gatttctggt gaaggagcgg gtcagtaagc cgcccgtgat
      661 catctctgac ctgattcgtg ggggcgccgc agagcagagt ggcctcatcc aggccggaga
      721 catcattctt gcggtcaacg gccggccctt ggtggacctg agctatgaca gcgccctgga
      781 ggtactcaga ggcattgcct ctgagaccca cgtggtcctc attctgaggg gccctgaagg
      841 tttcaccacg cacctggaga ccacctttac aggtgatggg acccccaaga ccatccgggt
      901 gacacagccc ctgggtcccc ccaccaaagc cgtggatctg tcccaccagc caccggccgg
      961 caaagaacag cccctggcag tggatggggc ctcgggtccc gggaatgggc ctcagcatgc
     1021 ctacgatgat gggcaggagg ctggctcact cccccatgcc aacggcctgg cccccaggcc
     1081 cccaggccag gaccccgcga agaaagcaac cagagtcagc ctccaaggca gaggggagaa
     1141 caatgaactg ctcaaggaga tagagcctgt gctgagcctt ctcaccagtg ggagcagagg
     1201 ggtcaaggga ggggcacctg ccaaggcaga gatgaaagat atgggaatcc aggtggacag
     1261 agatttggac ggcaagtcac acaaacctct gcccctcggc gtggagaacg accgagtctt
     1321 caatgaccta tgggggaagg gcaatgtgcc tgtcgtcctc aacaacccat attcagagaa
     1381 ggagcagccc cccacctcag gaaaacagtc ccccacaaag aatggcagcc cctccaagtg
     1441 tccacgcttc ctcaaggtca agaactggga gactgaggtg gttctcactg acaccctcca
     1501 ccttaagagc acattggaaa cgggatgcac tgagtacatc tgcatgggct ccatcatgca
     1561 tccttctcag catgcaagga ggcctgaaga cgtccgcaca aaaggacagc tcttccctct
     1621 cgccaaagag tttattgatc aatactattc atcaattaaa agatttggct ccaaagccca
     1681 catggaaagg ctggaagagg tgaacaaaga gatcgacacc actagcactt accagctcaa
     1741 ggacacagag ctcatctatg gggccaagca cgcctggcgg aatgcctcgc gctgtgtggg
     1801 caggatccag tggtccaagc tgcaggtatt cgatgcccgt gactgcacca cggcccacgg
     1861 gatgttcaac tacatctgta accatgtcaa gtatgccacc aacaaaggga acctcaggtc
     1921 tgccatcacc atattccccc agaggacaga cggcaagcac gacttccgag tctggaactc
     1981 ccagctcatc cgctacgctg gctacaagca gcctgacggc tccaccctgg gggacccagc
     2041 caatgtgcag ttcacagaga tatgcataca gcagggctgg aaaccgccta gaggccgctt
     2101 cgatgtcctg ccgctcctgc ttcaggccaa cggcaatgac cctgagctct tccagattcc
     2161 tccagagctg gtgttggaag ttcccatcag gcaccccaag tttgagtggt tcaaggacct
     2221 ggggctgaag tggtacggcc tccccgccgt gtccaacatg ctcctagaga ttggcggcct
     2281 ggagttcagc gcctgtccct tcagtggctg gtacatgggc acagagattg gtgtccgcga
     2341 ctactgtgac aactcccgct acaatatcct ggaggaagtg gccaagaaga tgaacttaga
     2401 catgaggaag acgtcctccc tgtggaagga ccaggcgctg gtggagatca atatcgcggt
     2461 tctctatagc ttccagagtg acaaagtgac cattgttgac catcactccg ccaccgagtc
     2521 cttcattaag cacatggaga atgagtaccg ctgccggggg ggctgccctg ccgactgggt
     2581 gtggatcgtg ccccccatgt ccggaagcat cacccctgtg ttccaccagg agatgctcaa
     2641 ctaccggctc accccctcct tcgaatacca gcctgatccc tggaacacgc atgtctggaa
     2701 aggcaccaac gggaccccca caaagcggcg agccattggc ttcaagaagc tagcagaagc
     2761 tgtcaagttc tcggccaagc tgatggggca ggctatggcc aagagggtga aagcgaccat
     2821 cctctatgcc acagagacag gcaaatcgca agcttatgcc aagaccttgt gtgagatctt
     2881 caaacacgcc tttgatgcca aggtgatgtc catggaagaa tatgacattg tgcacctgga
     2941 acatgaaact ctggtccttg tggtcaccag cacctttggc aatggagatc cccctgagaa
     3001 tggggagaaa ttcggctgtg ctttgatgga aatgaggcac cccaactctg tgcaggaaga
     3061 aaggaagagc tacaaggtcc gattcaacag cgtctcctcc tactctgact cccaaaaatc
     3121 atcaggcgat gggcccgacc tcagagacaa ctttgagagt gctggacccc tggccaatgt
     3181 gaggttctca gtttttggcc tcggctcacg agcataccct cacttttgcg ccttcggaca
     3241 cgctgtggac accctcctgg aagaactggg aggggagagg atcctgaaga tgagggaagg
     3301 ggatgagctc tgtgggcagg aagaggcttt caggacctgg gccaagaagg tcttcaaggc
     3361 agcctgtgat gtcttctgtg tgggagatga tgtcaacatt gaaaaggcca acaattccct
     3421 catcagcaat gatcgcagct ggaagagaaa caagttccgc ctcacctttg tggccgaagc
     3481 tccagaactc acacaaggtc tatccaatgt ccacaaaaag cgagtctcag ctgcccggct
     3541 ccttagccgt caaaacctcc agagccctaa atccagtcgg tcaactatct tcgtgcgtct
     3601 ccacaccaac gggagccagg agctgcagta ccagcctggg gaccacctgg gtgtcttccc
     3661 tggcaaccac gaggacctcg tgaatgccct gatcgagcgg ctggaggacg cgccgcctgt
     3721 caaccagatg gtgaaagtgg aactgctgga ggagcggaac acggctttag gtgtcatcag
     3781 taactggaca gacgagctcc gcctcccgcc ctgcaccatc ttccaggcct tcaagtacta
     3841 cctggacatc accacgccac caacgcctct gcagctgcag cagtttgcct ccctagctac
     3901 cagcgagaag gagaagcagc gtctgctggt cctcagcaag ggtttgcagg agtacgagga
     3961 atggaaatgg ggcaagaacc ccaccatcgt ggaggtgctg gaggagttcc catctatcca
     4021 gatgccggcc accctgctcc tgacccagct gtccctgctg cagccccgct actattccat
     4081 cagctcctcc ccagacatgt accctgatga agtgcacctc actgtggcca tcgtttccta
     4141 ccgcactcga gatggagaag gaccaattca ccacggcgta tgctcctcct ggctcaaccg
     4201 gatacaggct gacgaactgg tcccctgttt cgtgagagga gcacccagct tccacctgcc
     4261 ccggaacccc caagtcccct gcatcctcgt tggaccaggc accggcattg cccctttccg
     4321 aagcttctgg caacagcggc aatttgatat ccaacacaaa ggaatgaacc cctgccccat
     4381 ggtcctggtc ttcgggtgcc ggcaatccaa gatagatcat atctacaggg aagagaccct
     4441 gcaggccaag aacaaggggg tcttcagaga gctgtacacg gcttactccc gggagccaga
     4501 caaaccaaag aagtacgtgc aggacatcct gcaggagcag ctggcggagt ctgtgtaccg
     4561 agccctgaag gagcaagggg gccacatata cgtctgtggg gacgtcacca tggctgctga
     4621 tgtcctcaaa gccatccagc gcatcatgac ccagcagggg aagctctcgg cagaggacgc
     4681 cggcgtattc atcagccgga tgagggatga caaccgatac catgaggata tttttggagt
     4741 caccctgcga acgtacgaag tgaccaaccg ccttagatct gagtccattg ccttcattga
     4801 agagagcaaa aaagacaccg atgaggtttt cagctcctaa ctggaccctc ttgcccagcc
     4861 ggctgcaagt tttgtaagcg cggacagaca ctgctgaacc tttcctctgg gaccccctgt
     4921 ggccctcgct ctgcctcctg tccttgtcgc tgtgccctgg tttccctcct cgggcttctc
     4981 gcccctcagt ggtttcctcg gccctcctgg gtttactcct tgagttttcc tgctgcgatg
     5041 caatgctttt ctaatctgca gtggctctta caaaactctg ttcccactcc ctctcttgcc
     5101 gacaagggca actcacgggt gcatgaaacc actggaacat ggccgtcgct gtgggggttt
     5161 ttttctctgg ggttcccctg gaaaggctgc aggaactagg cacaagctct ctgagccagt
     5221 ccctcagcca ctgaagtccc cctttctcct tttttatgat gacattttgg ttgtgcgtgc
     5281 ctgtgtgtgt gtgtgtgtgt gtgtgtgtgt gtgtgatggg ccaggtctct gtccgtcctc
     5341 ttccctgcac aagtgtgtcg atcttagatt gccactgctt tcattgaaga ccctcaatgc
     5401 caagaaacgt gtccctggcc catattaatc cctcgtgtgt ccataattag ggtccacgcc
     5461 catgtacctg aaacatttgg aagccccata attgttctag ttagaaaggg ttcagggcat
     5521 ggggagagga gtgggaaatt gattaaaggg gctgtctccc aatgaaagag gcattcccag
     5581 aatttgctgc atttagattt tgataccagt gagcagagcc ctcatgtgac atgaacccat
     5641 ccaatggatt gtgcaaatcc cctccccaaa cccacccata ccagctagaa tcacttgact
     5701 ttgccacatc cattgactga ccccctcctc cagcaatagc atccaagggg cctggaagtt
     5761 atgttgttca aagaagcctg gtggcaataa ggatcttccc actttgccac tggatgactt
     5821 tggatgggtc acttgtcctc agtttttcct agtcataatg tcatacgaac ctaaagaata
     5881 tgaatggatt aaatgttaaa gctttggtgc ctggaaacaa tatcaagtaa caatatgatt
     5941 attatttttt tattccccca aagcgggctt gctgcttcac ccttggggat gaaataatgg
     6001 aagctggtta aagtggatga ggttggaaag agttgccata atgaggtccc acgtggcttc
     6061 ttcgatagga gccacaactt ggggtgggaa gaacttgtcc ctcaggcttg ttgccctctg
     6121 cagttgatct ccaaagtttt aaacctgtta aattaatttt gacaaataag ttaccctcaa
     6181 ctcagatcaa aaatgggcag ccaagtcttc ggtaggaatt ggagccggtg taattcctcc
     6241 ctaagaggca acctgttgaa tttactctct cagagtaaat ggtgggaagg gatccctttg
     6301 tatacttttt taaatactac aaattagtgt caggcagttc ccagaaagag acaagaaatc
     6361 ctagtggcct cccagactgc agggtcccca aggatggaaa gggaatgttc tgctggttct
     6421 accctgtttg ttgtgtcttg ctatacagaa aaaccacatt tcttttatat actgtacgtg
     6481 ggcatatctt gttgttcagt ttgggtgtct gctaaagagg aagtgcactg gccctctttg
     6541 aaagggcttt acagtggggg caccaagacc ccaaagggcc caggccagga gactgttaaa
     6601 gtgaaaaggc aatctatgac tcaccttgct ctgccatccc tggcagcccc caccggtgtc
     6661 ctgttcctgc cacatggagc ttgacttcat gccagctata atctcccctg ccttccttta
     6721 atcccaattt cccctgctca ctcttccaca gatataaaga acaaacactt agcatcccac
     6781 actcacccct tctaatcctg aagggaagcc cattctaaac tcctttcctg caaacccatt
     6841 tccagctcct agtagctttc ctcccaaagg ctttctttcc aatcctttat agctttggag
     6901 acgcctcccc aattccccag ggaaggaaac tgttgtgtcc aatccccatt aaagacaaat
     6961 tgatcagtgc ttcccactcc aagtcaagct ttatgcagga atgcttttcc atcagggaat
     7021 aaatacttag aagcgcttac aaggtgccag gcacctcctt tctgcatgtg cctgcctttc
     7081 tagtagcaga cagatggaaa cattgtctca ttttgtcaag gagtccaaag aaatgattat
     7141 aaaaccagga ttcatccttc ttctccagaa agattttttt ttaagtaaac acctttcaat
     7201 ccccaacaca agctgcttca caactccagg ctagaaggca ggagagcgat ctgatgtgtt
     7261 tctttcattt gccagaattc ctgataccaa aagcctctct ctctgttgag taacctctca
     7321 aggaccagag tggagtccag attgttaggc tcagatcaag ggtggggaaa tactgccctc
     7381 tcgtggtggc ttttcatcca ggcctcgtag ccaaccgttt aagtgcaaaa tagaattaag
     7441 caatgggtaa gcaaaatagg gttgacaaga tatttggggg ttattcgggt tatggcccat
     7501 ttatttccct cttccccctg aattgaccag tagcagctcc agccccattt cacaaaagtg
     7561 agtttggcca ggaggaatga gacgtctcct gaaataggaa caccggaaca tcatgctcac
     7621 ctgccatcac tatgcatcca gttcccacag cttgtgtcgt gaaagagcag agagatgatg
     7681 ttaaactcct tgggaggaga gagggcttct tttggtttcc ctggagtgag acagccaggt
     7741 gtctttcttt tgcgggggga cacttcagac ccatcaatat ggaattttgg gagccgacct
     7801 gagtgcaaat cctaattctg cccctgttgg tgcagatggc tgtgggcggc tcacttgacc
     7861 ttttagagtc tgcataccca cctgtataac aaggtggatt gaatgagaca atgcccacga
     7921 aatgcccagt tacagtacct ggttcaaaac ttactgcatt ttaatttttc acttaactta
     7981 taacatgtct tgcttctcca gtgtgtggaa ggcaccgggc agtttgcaga gataagcaaa
     8041 acacagttcc tctcgtgcag aaggttagaa tctatttttt tttttgacag agtcttgctc
     8101 tgtcacccag gctggcgtac agtggtacga tctcagctca ctgcatcctc tgcctccccc
     8161 agttcaagtg attcttctgc ctcggcctcc tgagtaactg ggactacagg cgcctaccac
     8221 cacgcccagc taagttttgt atttttagta gagtcagggt ttcaccatgt tggccaggct
     8281 ggtcttgaat tcctgacctc aaatgatcca cgcacctcag cctcccaaag tgctggatta
     8341 caggcatgag ccaccacgcc cagccaaagg ttataatctg atggagagag acacccgtct
     8401 tggaactgac ataaatttct ggggtttgag aaatgggcgg gatttcactg gtagcttctg
     8461 gaaggtaaga gttgtccagg aattgggaag agtgagagga aaggcacgga cagggagcat
     8521 gtaagataaa ttgaggctgg ctttggaagg ctgaggaggg tgagaaaagg tgggctggga
     8581 ccagaccgtg gggagaggtg agtggcatta caagaaattt aggctttatt cagaaggcaa
     8641 cagggagtcc ctaagaatgt ttttcaaaaa gggacattaa ggcgattgga gttatacttg
     8701 gaaaagaaag ttctggccac agtacagagc atggcccgtt gagctgttgg gggggttatt
     8761 gctgcaacca aggcttgagt gagggaagag gcggatgtag tgataaagag actccaggaa
     8821 ctgaatcagc gtacctggca ccccatccat tgtagagggt gagaataaag gagaaattaa
     8881 agcatcttgc aggctgggcg cggtagctca tgtctgtaat cccagcactt tgggaggccg
     8941 aggtgggtgt atcagttgag gtcaggagtt ggagaccagt cagccagtta gtagaaaccc
     9001 tgactctact aagaaaatac aaaaattagc tgggcatggt ggcatgcgcc tgtagtctca
     9061 gctacctggg aggctgagga aggaggatcg cttgagccca ggaggtggag gctgcagtga
     9121 gccaagattg taccactgca ctccagcctg ggtgacagag caagactctt atctcaaaaa
     9181 aaataaaata aaataaaata aaataaaaca tcttgcccct agctgagaga gaggtctctg
     9241 aagagcaggc tcagggaaaa gatgagtttt cagagctgat gtgatagtca gcttctctgg
     9301 agtcaacagg gtgaatcctt cccaagtcca gccatgccca gatgcccgga gggaaaactg
     9361 acccccagcc agtagacatt ggctaagaac acagaatctt ctgaccaaac acgctttcag
     9421 cagctgcctg ctctggactt tgaaagaggt caggtcttgc cctaagctca aaacaagtga
     9481 gaggtgtcct gacctagctc atagggcaaa tggtcctaat aggatgggca atccagatgc
     9541 ctgagcccct tcactccgac agcaccagcg cctaatgcag ccttttcatt cttgccatta
     9601 ggaaatctgt ggacttctag cctgtgtttt aaaccagcca tgtttccttg tatatttccc
     9661 tacccgctgc cccacatacc cagcatgccg ctgtggccac catgtcctca aagccttctg
     9721 tctgtatcag gaatgtagtc tgagactgcc aggaagcaac aaggagagag aaacactaac
     9781 tagtcttcct ttataaccca ttcatactct ctggctgtcc ccaaccttca tagtctcctg
     9841 catccaaatg tcctctttgg ctcaaaaagt aggccaggca tggtggttca tgcctgtaat
     9901 agcactttgg gagactgagg tgggaggatc acttggggcc aggagtttga gaccagcttg
     9961 ggcaacacag cgcaatctcg tctctactaa aaaaaaaaaa aaaaaaaaat tagctgggca
    10021 tgatggcatg ctcctgtggt cccagctact tgggaggctg aggcaggagg atcacttggt
    10081 cccaggagtt tgaggcgaca gtgagctagg atcgcaccac tgcactccag cctgagtgac
    10141 agagcaagac cctgtctcta aaaaaaatta aaatgaaaga ccaggtgctg ggattaagga
    10201 aacacaggtc tgagggtctg agggaagggg cctgcctccc agggagtcaa catagatgtt
    10261 ccccatgaac agggatttga ctttggaggc caacctggcc tggcctctgc cctttatctc
    10321 acactcccta tccttggccc actgccagtc cctgccttgt ggcaaagggg ccccaaaaga
    10381 aaagctgccc ttccccaaat gtaaggaccc aggtacactt tcacccgtgg aaagcagtgt
    10441 ctgtcgagag tctgtttcct attaatactt atcaaagcca tgtgcgaggg aggtggtcag
    10501 ctgtcaatat gccttagtat gtttatatga gtttgttttg ttctaaaata cccaaacagt
    10561 tctggtcaag cggggctatg cccgtctggc ccaaaacaca gtccgttatt aacgagatgg
    10621 ccctggcagg cgggaacaaa tctgcctcca tgcactgctt cctgtagtct tttagaaagt
    10681 aactccagga catcgaagtg cccagatttg actcctaagt tctaggagac tgtagcgcag
    10741 ggtctgtcaa ccttagcact attggcattt ggggctgggt aattctttct tgtgggggcc
    10801 gtcttgggta ctgtaggaag ctgagcagca ttcctggcct ccatccacaa gatacctgta
    10861 gcagtgtcct gccaacggta acaatcaagt atgtcatcag acattgccca atgtccccag
    10921 ggggcaacac ccctctcttg gacttcaggg tcaagagaat ctctgctggc taccccagga
    10981 cttctcatta tagatttcct ggagcacgca gcagaaactt tgcctagccc agtggttgtt
    11041 tccattatct gctgccaaag tgggatttga gggtgtccgg gggagggggc atggggaggg
    11101 cagtatgctt tcaaaaaccc ctcccaggcc aggcgtggtg gctcatgcct gtaatcacag
    11161 gactttggga ggccgaggct ggcagatcac ttgaggctgg gagttagaga ccaacctggc
    11221 taacatggca aaacctcgtc tctactaaaa atacaaaaat cagcccggcg tggtggcggg
    11281 catctgtaat cccatctact cgggaggctg aggcaggaga attacttgaa cccaggaggc
    11341 agaggctgca gtgagccgag atggcaccac tgcactccag cttgttgaca gaatgagacc
    11401 ctgtggaaaa aaaaaaaaaa gccctcccat gccagaacag aggatggcag tctgtttcaa
    11461 taagacactg tgtccttggt gttggttctg attaagactc actgagatcc agtgctcttg
    11521 agctgggtct cagtcccctc ccatgtcctg tgctctgccg ccactgtttt cattgttgtg
    11581 ttctcgttgt gattgttaag actcacactc ctggctcagc agtggttttc cagaaggccc
    11641 aaagagcggt gccgggcacc ccacgtcgca gtgtccgttc cgggcttggg aagctgggga
    11701 ggtgggcaga cctggtcgca tctcaccaca cacacacaca cacacacaca cacacacgct
    11761 gtcagaaact cggccgtccc ccctacctct gagctctcaa tgctgctaat ctctgccaag
    11821 tgtccctgtg ctccagcacc ttccttgaag gactgacgcc caccccacgc tctttgcgag
    11881 gttgtccagg ctgtgtttgt cgcatgctct tcttctgtat agttctcatc ttccaatttt
    11941 atgggattca acaaaagcct attatgcttg tttgcattat ggttacaata ttaaaaagtg
    12001 gattcaa
//
LOCUS       NM_000621               5415 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens 5-hydroxytryptamine receptor 2A (HTR2A), transcript
            variant 1, mRNA.
ACCESSION   NM_000621
VERSION     NM_000621.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5415)
  AUTHORS   Meyfarth SRS, Tavares JDS, Guimaraes LDS, Silva EAB, Gaio DC, Ecker
            MB, Brancher JA, Kuchler EC, Silva-Sousa AC, de Sousa-Neto MD,
            Antunes LAA and Antunes LS.
  TITLE     Association between single-nucleotide polymorphisms in serotonin
            receptor 2A and melatonin receptor 1A genes and pain after root
            canal treatment
  JOURNAL   Int Endod J 56 (9), 1077-1091 (2023)
   PUBMED   37323077
  REMARK    GeneRIF: Association between single-nucleotide polymorphisms in
            serotonin receptor 2A and melatonin receptor 1A genes and pain after
            root canal treatment.
REFERENCE   2  (bases 1 to 5415)
  AUTHORS   Shen J, Wang Q, Lu F, Xu H, Wang P and Feng Y.
  TITLE     Prognostic and immunomodulatory roles of schizophrenia-associated
            genes HTR2A, COMT, and PRODH in pan-cancer analysis and glioma
            survival prediction model
  JOURNAL   Front Immunol 14, 1201252 (2023)
   PUBMED   37564635
  REMARK    GeneRIF: Prognostic and immunomodulatory roles of
            schizophrenia-associated genes HTR2A, COMT, and PRODH in pan-cancer
            analysis and glioma survival prediction model. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 5415)
  AUTHORS   Coskunpinar EM, Tur S, Cevher Binici N and Yazan Songur C.
  TITLE     Association of GABRG3, GABRB3, HTR2A gene variants with autism
            spectrum disorder
  JOURNAL   Gene 870, 147399 (2023)
   PUBMED   37019319
  REMARK    GeneRIF: Association of GABRG3, GABRB3, HTR2A gene variants with
            autism spectrum disorder.
REFERENCE   4  (bases 1 to 5415)
  AUTHORS   Saha S and Gonzalez-Maeso J.
  TITLE     The crosstalk between 5-HT2AR and mGluR2 in schizophrenia
  JOURNAL   Neuropharmacology 230, 109489 (2023)
   PUBMED   36889432
  REMARK    GeneRIF: The crosstalk between 5-HT2AR and mGluR2 in schizophrenia.
            Review article
REFERENCE   5  (bases 1 to 5415)
  AUTHORS   Konjevod M, Sreter KB, Popovic-Grle S, Lampalo M, Tudor L, Jukic I,
            Nedic Erjavec G, Bingulac-Popovic J, Safic Stanic H, Nikolac
            Perkovic M, Markeljevic J, Samarzija M, Pivac N and Svob Strac D.
  TITLE     Platelet Serotonin (5-HT) Concentration, Platelet Monoamine Oxidase
            B (MAO-B) Activity and HTR2A, HTR2C, and MAOB Gene Polymorphisms in
            Asthma
  JOURNAL   Biomolecules 13 (5), 800 (2023)
   PUBMED   37238670
  REMARK    GeneRIF: Platelet Serotonin (5-HT) Concentration, Platelet Monoamine
            Oxidase B (MAO-B) Activity and HTR2A, HTR2C, and MAOB Gene
            Polymorphisms in Asthma. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5415)
  AUTHORS   Stam NJ, Van Huizen F, Van Alebeek C, Brands J, Dijkema R, Tonnaer
            JA and Olijve W.
  TITLE     Genomic organization, coding sequence and functional expression of
            human 5-HT2 and 5-HT1A receptor genes
  JOURNAL   Eur J Pharmacol 227 (2), 153-162 (1992)
   PUBMED   1330647
REFERENCE   7  (bases 1 to 5415)
  AUTHORS   Chen K, Yang W, Grimsby J and Shih JC.
  TITLE     The human 5-HT2 receptor is encoded by a multiple intron-exon gene
  JOURNAL   Brain Res Mol Brain Res 14 (1-2), 20-26 (1992)
   PUBMED   1323014
REFERENCE   8  (bases 1 to 5415)
  AUTHORS   Saltzman AG, Morse B, Whitman MM, Ivanshchenko Y, Jaye M and Felder
            S.
  TITLE     Cloning of the human serotonin 5-HT2 and 5-HT1C receptor subtypes
  JOURNAL   Biochem Biophys Res Commun 181 (3), 1469-1478 (1991)
   PUBMED   1722404
REFERENCE   9  (bases 1 to 5415)
  AUTHORS   Sparkes RS, Lan N, Klisak I, Mohandas T, Diep A, Kojis T, Heinzmann
            C and Shih JC.
  TITLE     Assignment of a serotonin 5HT-2 receptor gene (HTR2) to human
            chromosome 13q14-q21 and mouse chromosome 14
  JOURNAL   Genomics 9 (3), 461-465 (1991)
   PUBMED   2032718
REFERENCE   10  (bases 1 to 5415)
  AUTHORS   Hsieh CL, Bowcock AM, Farrer LA, Hebert JM, Huang KN, Cavalli-Sforza
            LL, Julius D and Francke U.
  TITLE     The serotonin receptor subtype 2 locus HTR2 is on human chromosome
            13 near genes for esterase D and retinoblastoma-1 and on mouse
            chromosome 14
  JOURNAL   Somat Cell Mol Genet 16 (6), 567-574 (1990)
   PUBMED   1980030
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK314132.1, SRR14372080.1096257.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2144335 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000542664.4/ ENSP00000437737.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL160397.17 and AL136958.9.
            On Mar 13, 2020 this sequence version replaced NM_000621.4.
            Summary: This gene encodes one of the receptors for serotonin, a
            neurotransmitter with many roles. Mutations in this gene are
            associated with susceptibility to schizophrenia and
            obsessive-compulsive disorder, and are also associated with
            response to the antidepressant citalopram in patients with major
            depressive disorder (MDD). MDD patients who also have a mutation in
            intron 2 of this gene show a significantly reduced response to
            citalopram as this antidepressant downregulates expression of this
            gene. Multiple transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Sep 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5415
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.2"
     gene            1..5415
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="5-hydroxytryptamine receptor 2A"
                     /db_xref="GeneID:3356"
                     /db_xref="HGNC:HGNC:5293"
                     /db_xref="MIM:182135"
     misc_feature    667..669
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="upstream in-frame stop codon"
     CDS             709..2124
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     serotonin 5-HT-2A receptor; 5-HT2 receptor;
                     5-hydroxytryptamine (serotonin) receptor 2A, G
                     protein-coupled"
                     /codon_start=1
                     /product="5-hydroxytryptamine receptor 2A isoform 1"
                     /protein_id="NP_000612.1"
                     /db_xref="CCDS:CCDS9405.1"
                     /db_xref="GeneID:3356"
                     /db_xref="HGNC:HGNC:5293"
                     /db_xref="MIM:182135"
                     /translation="MDILCEENTSLSSTTNSLMQLNDDTRLYSNDFNSGEANTSDAFNW
                     TVDSENRTNLSCEGCLSPSCLSLLHLQEKNWSALLTAVVIILTIAGNILVIMAVSLEKK
                     LQNATNYFLMSLAIADMLLGFLVMPVSMLTILYGYRWPLPSKLCAVWIYLDVLFSTASI
                     MHLCAISLDRYVAIQNPIHHSRFNSRTKAFLKIIAVWTISVGISMPIPVFGLQDDSKVF
                     KEGSCLLADDNFVLIGSFVSFFIPLTIMVITYFLTIKSLQKEATLCVSDLGTRAKLASF
                     SFLPQSSLSSEKLFQRSIHREPGSYTGRRTMQSISNEQKACKVLGIVFFLFVVMWCPFF
                     ITNIMAVICKESCNEDVIGALLNVFVWIGYLSSAVNPLVYTLFNKTYRSAFSRYIQCQY
                     KENKKPLQLILVNTIPALAYKSSQLQMGQKKNSKQDAKTTDNDCSMVALGKQHSEEASK
                     DNSDGVNEKVSCV"
     misc_feature    730..732
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28223.2); glycosylation site"
     misc_feature    820..822
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28223.2); glycosylation site"
     misc_feature    838..840
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28223.2); glycosylation site"
     misc_feature    859..861
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28223.2); glycosylation site"
     misc_feature    868..870
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28223.2); glycosylation site"
     misc_feature    934..1005
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2);
                     transmembrane region"
     misc_feature    1039..1104
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2);
                     transmembrane region"
     misc_feature    1153..1221
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2);
                     transmembrane region"
     misc_feature    1222..1230
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2);
                     Region: DRY motif, important for ligand-induced
                     conformation changes.
                     /evidence=ECO:0000250|UniProtKB:P41595"
     misc_feature    1282..1353
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2);
                     transmembrane region"
     misc_feature    1393..1395
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="Hydrophobic barrier that decreases the speed of
                     ligand binding and dissociation.
                     /evidence=ECO:0000269|PubMed:28129538; propagated from
                     UniProtKB/Swiss-Prot (P28223.2); other site"
     misc_feature    1408..1470
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2);
                     transmembrane region"
     misc_feature    1546..1548
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:24637012; propagated from
                     UniProtKB/Swiss-Prot (P28223.2); phosphorylation site"
     misc_feature    1681..1746
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2);
                     transmembrane region"
     misc_feature    1795..1860
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2);
                     transmembrane region"
     misc_feature    1834..1848
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2);
                     Region: NPxxY motif, important for ligand-induced
                     conformation changes and signaling.
                     /evidence=ECO:0000250|UniProtKB:P41595"
     misc_feature    2056..2121
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2113..2121
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P28223.2);
                     Region: PDZ-binding. /evidence=ECO:0000269|PubMed:11150294,
                     ECO:0000269|PubMed:14988405"
     regulatory      5393..5398
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="hexamer: AATAAA"
     polyA_site      5415
                     /gene="HTR2A"
                     /gene_synonym="5-HT2A; HTR2"
                     /note="major polyA site"
ORIGIN
        1 agagagctac tccattcccg tggaaaccag gagtcccttg gtgcagacag ctcttcctac
       61 tttcccatgc agttcttttg tgcgactttg aggggctcgt gaatgatttc taaatgtgtg
      121 cctgctgagg cgagccgcac agggagggag gaacccagcc gagccgtgcc agaggaagcc
      181 aacaggatcc tagcagtgcg ggagctggct cagctcttgc atgcagtttt tgaagtcagc
      241 aaaacagaaa ccaaattact atcatattat gctggtggaa gatcaagaag aggggactct
      301 acaccagttt aattactgtg agagatgcag cgagtcacag aataacaaat gtatctcatg
      361 tgtggaccct gaagacaaat gacatttatc ttcccgagcg ctcaaaaaaa accctgcaac
      421 ctctatgcta aaagttcatt ctgctttttt gtcctcggtt tggtgagaaa ataataaaac
      481 caaacagtgg actctcctaa aattgtgaat gaagaaaact tacagccacc acagttcagt
      541 tctttaacta tcattgtaat aatggaagac aaaaatccag ccccgggaga acagcatgta
      601 caccagcctc agtgttacag agtgtgggta catcaaggtg aatggtgagc agaaactata
      661 acctgttagt ccttctacac ctcatctgct acaagttctg gcttagacat ggatattctt
      721 tgtgaagaaa atacttcttt gagctcaact acgaactccc taatgcaatt aaatgatgac
      781 accaggctct acagtaatga ctttaactcc ggagaagcta acacttctga tgcatttaac
      841 tggacagtcg actctgaaaa tcgaaccaac ctttcctgtg aagggtgcct ctcaccgtcg
      901 tgtctctcct tacttcatct ccaggaaaaa aactggtctg ctttactgac agccgtagtg
      961 attattctaa ctattgctgg aaacatactc gtcatcatgg cagtgtccct agagaaaaag
     1021 ctgcagaatg ccaccaacta tttcctgatg tcacttgcca tagctgatat gctgctgggt
     1081 ttccttgtca tgcccgtgtc catgttaacc atcctgtatg ggtaccggtg gcctctgccg
     1141 agcaagcttt gtgcagtctg gatttacctg gacgtgctct tctccacggc ctccatcatg
     1201 cacctctgcg ccatctcgct ggaccgctac gtcgccatcc agaatcccat ccaccacagc
     1261 cgcttcaact ccagaactaa ggcatttctg aaaatcattg ctgtttggac catatcagta
     1321 ggtatatcca tgccaatacc agtctttggg ctacaggacg attcgaaggt ctttaaggag
     1381 gggagttgct tactcgccga tgataacttt gtcctgatcg gctcttttgt gtcatttttc
     1441 attcccttaa ccatcatggt gatcacctac tttctaacta tcaagtcact ccagaaagaa
     1501 gctactttgt gtgtaagtga tcttggcaca cgggccaaat tagcttcttt cagcttcctc
     1561 cctcagagtt ctttgtcttc agaaaagctc ttccagcggt cgatccatag ggagccaggg
     1621 tcctacacag gcaggaggac tatgcagtcc atcagcaatg agcaaaaggc atgcaaggtg
     1681 ctgggcatcg tcttcttcct gtttgtggtg atgtggtgcc ctttcttcat cacaaacatc
     1741 atggccgtca tctgcaaaga gtcctgcaat gaggatgtca ttggggccct gctcaatgtg
     1801 tttgtttgga tcggttatct ctcttcagca gtcaacccac tagtctacac actgttcaac
     1861 aagacctata ggtcagcctt ttcacggtat attcagtgtc agtacaagga aaacaaaaaa
     1921 ccattgcagt taattttagt gaacacaata ccggctttgg cctacaagtc tagccaactt
     1981 caaatgggac aaaaaaagaa ttcaaagcaa gatgccaaga caacagataa tgactgctca
     2041 atggttgctc taggaaagca gcattctgaa gaggcttcta aagacaatag cgacggagtg
     2101 aatgaaaagg tgagctgtgt gtgataggct agttgccgtg gcaactgtgg aaggcacact
     2161 gagcaagttt tcacctatct ggaaaaaaaa aaatatgaga ttggaaaaaa ttagacaagt
     2221 ctagtggaac caacgatcat atctgtatgc ctcattttat tctgtcaatg aaaagcgggg
     2281 ttcaatgcta caaaatgtgt gcttggaaaa tgttctgaca gcatttcagc tgtgagcttt
     2341 ctgatactta tttataacat tgtaaatgat atgtctttaa aatgattcac ttttattgta
     2401 taattatgaa gccctaagta aatctaaatt aacttctatt ttcaagtgga aaccttgctg
     2461 ctatgctgtt cattgatgac atgggattga gttggttacc tattgctgta aataaaaata
     2521 gctataaata gtgaaaattt tattgaatat aatggcctct taaaaattat ctttaaaact
     2581 tactatggta tatattttga aaggagaaaa aaaaagccac taaggtcagt gttataaaat
     2641 ctgtattgct aagataatta aatgaaatac ttgacaacat ttttcattcc tgctttttca
     2701 tagataccat tttgaaatat tcacaaggtt gctggcattt gctgcatttc aagttaattc
     2761 tcagaagtga aaaagacttc aaatgttatt caataactat tgctgctttc tcttctactt
     2821 cttgtgcttt actctgaatt tccagtgtgg tcttgtttaa tatttgttcc tctaggtaaa
     2881 ctagcaaaag gatgatttaa cattaccaaa tgcctttcta gcaattgctt ctctaaaaca
     2941 gcactatcga ggtatttggt aacttgctgt gaaatgactg catcatgcat gcactctttt
     3001 gagcagtaaa tgtatattga tgtaactgtg tcaggattga ggatgaactc aggtttccgg
     3061 ctactgacag tggtagagtc ctaggacatc tctgtaaaaa gcaggtgact ttcctatgac
     3121 actcatcagg taaactgatg ctttcagatc catcggttta tactatttat taaaaccatt
     3181 ctgcttggtt ccacaatcat ctattgagtg tacatttatg tgtgaagcaa atttctagat
     3241 atgagaaata taaaaataat taaaacaaaa tccttgcctt caaacgaaat ggctcggcca
     3301 ggcacggagg ctcgtgcatg taatcctagc actttgggag gctgagatgg gaggatcact
     3361 tgaggccaag agtttgagac caacctgggt aacaaagtga gacctccctg tctctacaaa
     3421 aaaaatcaaa aaattatctg atccttgtgg cacacaactg tggtcccagc tacaggggag
     3481 gctgagacgc aaggatcact tgagcccaga agctcaaggc tgcagtgagc caagttcaca
     3541 ccactgccat ttcctcctgg gcaacagagt gagaccctat cacaaaaaaa aagaaagaaa
     3601 aaaagaaaat gactaaactg aaatggtctt agtcaaaaaa tatatacaga cttattttta
     3661 gaatcatttc aacttatttc cttcttacct ggttcagaaa caagtttgtt tcaactgtga
     3721 gagtagtttt aaaaataagt tttcctgatt ggttaccaat aaacaccaaa caaataaagg
     3781 agggggaaaa tatcacttga ggcttaacat tgcaattaat ttagaaatac gcacctcaat
     3841 ctcaagccag tttataacta ccatagtttt gagcaaaatt tttcttctat ttctccaaaa
     3901 actcactcat ttcagtatta ctcattgaca ctgggctccc taatagaaaa gcagatatta
     3961 taatatttca ttgaaatggt tactaaagag aaaaagagat taacaacagt taatccacct
     4021 tgatattata acactcaagg ttaaattgca tgttgttatt agaatcaatg ttatatatat
     4081 gattacaatg ctgaagcatt tctattgaat gagaaatagt gtttgcccta aacctttggg
     4141 aaaaaaatac agatttgaaa actaaagaat gtgggaagtg tcattgtgta atttggaaat
     4201 gcataaaatt ctcattatgt cctcatagat atgttgaaag atggttcact gtttcaaaga
     4261 tagaatgtat aatatgctgc tagtaccaag gctgcatttg aactgaacta ctccttatga
     4321 tataccatac taactgatga aaatataaat gttaaaatgt ctccactcta atgtattttg
     4381 ccttcacttg taactctgca catttcatta tatattaggg aaaagattac agattctacc
     4441 cccatatact caatcttgat cagaatgtac attaatgttg cctgatagat gtcttttgac
     4501 tacctatata ttacaaatgt gtatgtgttt ttttcttcca taagtatcta ttcaagtgta
     4561 tactgtatag gcaaatgtgt agctgtatat atgtacagac atgttctcat gcactttatt
     4621 caatatttat atatttatat ggacgaaaag caagtcaatg aaaacactca gtatatacac
     4681 atgtgtgcat gtttgtatca tgtttattta aatgtgaatt catgttctaa tatttctatg
     4741 accttccatt gctgcaaagc agattaaagt gtaacaaaaa tatcagctct ttaaataaac
     4801 tggaaattaa tctaattttg tggaagaact ttaagacaag tctatgagga tggcgaaaac
     4861 aatggtccac atatatagtt tcttgatcct aaataaaatg gtacctttgg gccctttgtt
     4921 tagtctggca attttctgac tactatggct ttttaaacag actcacacct aagtgaaaca
     4981 cagttgtcaa atgatttatg gatctgtgat taaaggattc acttttaatg aatactatta
     5041 aaacggagta acaaaccttg ctctacttta agttgaatga tagattcctc tatattcaaa
     5101 aaaaagcaat taactgccat aattagggaa aactgtttaa agcatactgc atttacttgg
     5161 ccacagcgcc atctcatggt aattttttaa agtgctaccg tagccaaatt gaactaagtc
     5221 actgtactgc tttcagcaaa gggtgctcct cccatttgtg catcaatgag acatatttat
     5281 aaagtgctaa attattctgt gccatatgta acaaatacag tgaagattat tttatgaact
     5341 tattttaatc aaggcgatgc taaaagtttt caagaaagga taaataactg taaataaagt
     5401 agactcaaaa atgaa
//
LOCUS       NM_000624               2278 bp    mRNA    linear   PRI 27-JUN-2023
DEFINITION  Homo sapiens serpin family A member 5 (SERPINA5), mRNA.
ACCESSION   NM_000624
VERSION     NM_000624.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2278)
  AUTHORS   Matchett BJ, Lincoln SJ, Baker M, Tamvaka N, Labuzan SA, Hicks
            Sirmans TN, Moloney CM, Helminger J, Hinkle KM, Cabrera-Rodriguez J,
            Wickland DP, Johnson PW, Heckman MG, Reddy JS, Younkin SG,
            Carrasquillo MM, Duara R, Graff-Radford NR, Pottier C, Ertekin-Taner
            N, Ross OA, Rademakers R, Dickson DW and Murray ME.
  TITLE     The SERPINA5 coding variant E228Q does not contribute to
            clinicopathologic characteristics in Alzheimer's disease: A
            cross-sectional study
  JOURNAL   Medicine (Baltimore) 102 (24), e34017 (2023)
   PUBMED   37327267
  REMARK    GeneRIF: The SERPINA5 coding variant E228Q does not contribute to
            clinicopathologic characteristics in Alzheimer's disease: A
            cross-sectional study.
REFERENCE   2  (bases 1 to 2278)
  AUTHORS   Afsari M, Fesahat F, Talebi AR, Agarwal A, Henkel R, Zare F, Gul M,
            Iraci N, Cannarella R, Makki M, Anvari M, Sarcheshmeh AA and Talebi
            AH.
  TITLE     ANXA2, SP17, SERPINA5, PRDX2 genes, and sperm DNA fragmentation
            differentially represented in male partners of infertile couples
            with normal and abnormal sperm parameters
  JOURNAL   Andrologia 54 (10), e14556 (2022)
   PUBMED   36177795
  REMARK    GeneRIF: ANXA2, SP17, SERPINA5, PRDX2 genes, and sperm DNA
            fragmentation differentially represented in male partners of
            infertile couples with normal and abnormal sperm parameters.
REFERENCE   3  (bases 1 to 2278)
  AUTHORS   Fan M, Xiong X, Han L, Zhang L, Gao S, Liu L, Wang X, Huang C, Tong
            D, Yang J, Zhao L and Shao Y.
  TITLE     SERPINA5 promotes tumour cell proliferation by modulating the
            PI3K/AKT/mTOR signalling pathway in gastric cancer
  JOURNAL   J Cell Mol Med 26 (18), 4837-4846 (2022)
   PUBMED   36000536
  REMARK    GeneRIF: SERPINA5 promotes tumour cell proliferation by modulating
            the PI3K/AKT/mTOR signalling pathway in gastric cancer.
REFERENCE   4  (bases 1 to 2278)
  AUTHORS   Hayashi T and Suzuki K.
  TITLE     Gene organization of human protein C inhibitor, a member of SERPIN
            family proteins encoded in five exons
  JOURNAL   Int J Hematol 58 (3), 213-224 (1993)
   PUBMED   8148499
REFERENCE   5  (bases 1 to 2278)
  AUTHORS   Yasuda T, Nadano D, Iida R, Tanaka Y, Nakanaga M and Kishi K.
  TITLE     Discovery of a genetic polymorphism of human plasma protein C
            inhibitor (PCI): genetic survey utilizing isoelectric focusing
            followed by immunoblotting, immunological and biochemical
            characterization
  JOURNAL   Hum Genet 89 (3), 265-269 (1992)
   PUBMED   1318261
REFERENCE   6  (bases 1 to 2278)
  AUTHORS   Laurell M, Christensson A, Abrahamsson PA, Stenflo J and Lilja H.
  TITLE     Protein C inhibitor in human body fluids. Seminal plasma is rich in
            inhibitor antigen deriving from cells throughout the male
            reproductive system
  JOURNAL   J Clin Invest 89 (4), 1094-1101 (1992)
   PUBMED   1372913
REFERENCE   7  (bases 1 to 2278)
  AUTHORS   Espana F, Gilabert J, Estelles A, Romeu A, Aznar J and Cabo A.
  TITLE     Functionally active protein C inhibitor/plasminogen activator
            inhibitor-3 (PCI/PAI-3) is secreted in seminal vesicles, occurs at
            high concentrations in human seminal plasma and complexes with
            prostate-specific antigen
  JOURNAL   Thromb Res 64 (3), 309-320 (1991)
   PUBMED   1725227
REFERENCE   8  (bases 1 to 2278)
  AUTHORS   Meijers JC and Chung DW.
  TITLE     Organization of the gene coding for human protein C inhibitor
            (plasminogen activator inhibitor-3). Assignment of the gene to
            chromosome 14
  JOURNAL   J Biol Chem 266 (23), 15028-15034 (1991)
   PUBMED   1714450
REFERENCE   9  (bases 1 to 2278)
  AUTHORS   Laurell M and Stenflo J.
  TITLE     Protein C inhibitor from human plasma: characterization of native
            and cleaved inhibitor and demonstration of inhibitor complexes with
            plasma kallikrein
  JOURNAL   Thromb Haemost 62 (3), 885-891 (1989)
   PUBMED   2556811
REFERENCE   10  (bases 1 to 2278)
  AUTHORS   Suzuki,K., Deyashiki,Y., Nishioka,J., Kurachi,K., Akira,M.,
            Yamamoto,S. and Hashimoto,S.
  TITLE     Characterization of a cDNA for human protein C inhibitor. A new
            member of the plasma serine protease inhibitor superfamily
  JOURNAL   J Biol Chem 262 (2), 611-616 (1987)
   PUBMED   3027058
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.134082.1,
            SRR5189667.263624.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000329597.12/ ENSP00000333203.7
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY003178.1, BC008915.2,
            DC394575.1, AK293192.1 and AI114432.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000624.5.
            Summary: The protein encoded by this gene is a member of the serpin
            family of proteins, a group of proteins that inhibit serine
            proteases. This gene is one in a cluster of serpin genes located on
            the q arm of chromosome 14. This family member is a glycoprotein
            that can inhibit several serine proteases, including protein C and
            various plasminogen activators and kallikreins, and it thus plays
            diverse roles in hemostasis and thrombosis in multiple organs.
            [provided by RefSeq, Aug 2012].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2278
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.13"
     gene            1..2278
                     /gene="SERPINA5"
                     /gene_synonym="PAI-3; PAI3; PCI; PCI-B; PLANH3; PROCI"
                     /note="serpin family A member 5"
                     /db_xref="GeneID:5104"
                     /db_xref="HGNC:HGNC:8723"
                     /db_xref="MIM:601841"
     misc_feature    131..133
                     /gene="SERPINA5"
                     /gene_synonym="PAI-3; PAI3; PCI; PCI-B; PLANH3; PROCI"
                     /note="upstream in-frame stop codon"
     CDS             179..1399
                     /gene="SERPINA5"
                     /gene_synonym="PAI-3; PAI3; PCI; PCI-B; PLANH3; PROCI"
                     /note="serine (or cysteine) proteinase inhibitor, clade A
                     (alpha-1 antiproteinase, antitrypsin), member 5; plasma
                     serine protease inhibitor; serpin peptidase inhibitor,
                     clade A (alpha-1 antiproteinase, antitrypsin), member 5;
                     plasminogen activator inhibitor III; plasminogen activator
                     inhibitor-3; acrosomal serine protease inhibitor; protein C
                     inhibitor"
                     /codon_start=1
                     /product="plasma serine protease inhibitor preproprotein"
                     /protein_id="NP_000615.3"
                     /db_xref="CCDS:CCDS9928.1"
                     /db_xref="GeneID:5104"
                     /db_xref="HGNC:HGNC:8723"
                     /db_xref="MIM:601841"
                     /translation="MQLFLLLCLVLLSPQGASLHRHHPREMKKRVEDLHVGATVAPSSR
                     RDFTFDLYRALASAAPSQSIFFSPVSISMSLAMLSLGAGSSTKMQILEGLGLNLQKSSE
                     KELHRGFQQLLQELNQPRDGFQLSLGNALFTDLVVDLQDTFVSAMKTLYLADTFPTNFR
                     DSAGAMKQINDYVAKQTKGKIVDLLKNLDSNAVVIMVNYIFFKAKWETSFNHKGTQEQD
                     FYVTSETVVRVPMMSREDQYHYLLDRNLSCRVVGVPYQGNATALFILPSEGKMQQVENG
                     LSEKTLRKWLKMFKKRQLELYLPKFSIEGSYQLEKVLPSLGISNVFTSHADLSGISNHS
                     NIQVSEMVHKAVVEVDESGTRAAAATGTIFTFRSARLNSQRLVFNRPFLMFIVDNNILF
                     LGKVNRP"
     sig_peptide     179..235
                     /gene="SERPINA5"
                     /gene_synonym="PAI-3; PAI3; PCI; PCI-B; PLANH3; PROCI"
                     /note="/evidence=ECO:0000269|PubMed:2556811; propagated
                     from UniProtKB/Swiss-Prot (P05154.3)"
     proprotein      236..1396
                     /gene="SERPINA5"
                     /gene_synonym="PAI-3; PAI3; PCI; PCI-B; PLANH3; PROCI"
                     /product="plasma serine protease inhibitor proprotein"
     mat_peptide     254..1396
                     /gene="SERPINA5"
                     /gene_synonym="PAI-3; PAI3; PCI; PCI-B; PLANH3; PROCI"
                     /product="Plasma serine protease inhibitor.
                     /id=PRO_0000032427"
                     /note="propagated from UniProtKB/Swiss-Prot (P05154.3)"
     misc_feature    293..295
                     /gene="SERPINA5"
                     /gene_synonym="PAI-3; PAI3; PCI; PCI-B; PLANH3; PROCI"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:21056543,
                     ECO:0000269|PubMed:22171320; propagated from
                     UniProtKB/Swiss-Prot (P05154.3); glycosylation site"
     misc_feature    923..925
                     /gene="SERPINA5"
                     /gene_synonym="PAI-3; PAI3; PCI; PCI-B; PLANH3; PROCI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:18467335; propagated from
                     UniProtKB/Swiss-Prot (P05154.3); glycosylation site"
     misc_feature    962..964
                     /gene="SERPINA5"
                     /gene_synonym="PAI-3; PAI3; PCI; PCI-B; PLANH3; PROCI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12575940,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:18467335;
                     propagated from UniProtKB/Swiss-Prot (P05154.3);
                     glycosylation site"
     misc_feature    1190..1192
                     /gene="SERPINA5"
                     /gene_synonym="PAI-3; PAI3; PCI; PCI-B; PLANH3; PROCI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:18467335; propagated from
                     UniProtKB/Swiss-Prot (P05154.3); glycosylation site"
     misc_feature    1295..1300
                     /gene="SERPINA5"
                     /gene_synonym="PAI-3; PAI3; PCI; PCI-B; PLANH3; PROCI"
                     /note="Reactive bond; propagated from UniProtKB/Swiss-Prot
                     (P05154.3); other site"
     regulatory      2256..2261
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINA5"
                     /gene_synonym="PAI-3; PAI3; PCI; PCI-B; PLANH3; PROCI"
                     /note="hexamer: AATAAA"
     polyA_site      2278
                     /gene="SERPINA5"
                     /gene_synonym="PAI-3; PAI3; PCI; PCI-B; PLANH3; PROCI"
                     /note="major polyA site"
ORIGIN
        1 ctctgccctt tctgagcccg agggactgcc acctccactg tgtgcacact cagctacggg
       61 acacatttca ggtatccaag gcagcagagg tgagtgggtc ccccgagctc tgtgacctta
      121 tgctccacac taactctggc agagcctccg tttcctcata gaacaaagaa cagccaccat
      181 gcagctcttc ctcctcttgt gcctggtgct tctcagccct cagggggcct cccttcaccg
      241 ccaccacccc cgggagatga agaagagagt cgaggacctc catgtaggtg ccacggtggc
      301 ccccagcagc agaagggact ttacctttga cctctacagg gccttggctt ccgctgcccc
      361 cagccagagc atcttcttct cccctgtgag catctccatg agcctggcca tgctctccct
      421 gggggctggg tccagcacaa agatgcagat cctggagggc ctgggcctca acctccagaa
      481 aagctcagag aaggagctgc acagaggctt tcagcagctc cttcaggaac tcaaccagcc
      541 cagagatggc ttccagctga gcctcggcaa tgcccttttc accgacctgg tggtagacct
      601 gcaggacacc ttcgtaagtg ccatgaagac gctgtacctg gcagacactt tccctaccaa
      661 ctttagggac tctgcagggg ccatgaagca gatcaatgat tatgtggcaa agcaaacgaa
      721 gggcaagatt gtggacttgc ttaagaacct cgatagcaat gcggtcgtga tcatggtgaa
      781 ttacatcttc tttaaagcta agtgggagac aagcttcaac cacaaaggca cccaagagca
      841 agacttctac gtgacctcgg agactgtggt gcgggtaccc atgatgagcc gcgaggatca
      901 gtatcactac ctcctggacc ggaacctctc ctgcagggtg gtgggggtcc cctaccaagg
      961 caatgccacg gctttgttca ttctccccag tgagggaaag atgcagcagg tggagaatgg
     1021 actgagtgag aaaacgctga ggaagtggct taagatgttc aaaaagaggc agctcgagct
     1081 ttaccttccc aaattctcca ttgagggctc ctatcagctg gagaaagtcc tccccagtct
     1141 ggggatcagt aacgtcttca cctcccatgc tgatctgtcc ggcatcagca accactcaaa
     1201 tatccaggtg tctgagatgg tgcacaaagc tgtggtggag gtggacgagt cgggaaccag
     1261 agcagcggca gccacgggga caatattcac tttcaggtcg gcccgcctga actctcagag
     1321 gctagtgttc aacaggccct ttctgatgtt cattgtggat aacaacatcc tcttccttgg
     1381 caaagtgaac cgcccctgag gtggggcttc tcctgaaatc tacaggcctc agggtgggag
     1441 atgaaggggg ctaagctatg gcccatctgt atgctggtag ctagtgattt acacaggttt
     1501 agttgactaa tgaggcatta caaataatat tactctatga tgattgcttc cacccacacg
     1561 actgcaacat acaggtgcct tggggaaatg tggagaacat tcaatcttgc cgtcactatt
     1621 catcaatgaa gattaacact gagatccaga gaggctggat gacttgctca agttcaccag
     1681 catggtagtg gcaaagagag gtccagagtc ctggcccttg atgcccagct cagtgccaca
     1741 aagctcaata ggagggatgt tccagtggat gagggccacc aggaagcaca ggtccaaggc
     1801 tggtcccaca cttatcagca gcaacaactg tcagttcatc ctgcatggga aaaatgttgg
     1861 aatgggagtc tgaaatgggg ctactgtttc agtcctaatg tgctgtgtga cattgggaca
     1921 acactttccc tctctggacc tcagtttccc tctgtataca aggatcagat tcttgctgtg
     1981 acccaagaac tcctgaaatc atatagaaag gctggggtgg gccctgtcat tcgtggttga
     2041 tttcaataca ctcaagtgcc attcatcctt taagaaaaac atctggatat caaggtggaa
     2101 atggcccatt taatgattga ttatatcatt ttgtggatat agttataatc tgatgggcct
     2161 ggctgggagt ggaagaaggg aagccttttg caaatagtag agtatcagtt gcaggtgcca
     2221 atgactaact ttttgaattc tatgttggca ttaacaataa agcattttgc aaacactg
//
LOCUS       NM_000625               4206 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens nitric oxide synthase 2 (NOS2), mRNA.
ACCESSION   NM_000625
VERSION     NM_000625.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4206)
  AUTHORS   Grebowski R, Saluk J, Bijak M, Szemraj J and Wigner-Jeziorska P.
  TITLE     The role of SOD2 and NOS2 genes in the molecular aspect of bladder
            cancer pathophysiology
  JOURNAL   Sci Rep 13 (1), 14491 (2023)
   PUBMED   37660159
  REMARK    GeneRIF: The role of SOD2 and NOS2 genes in the molecular aspect of
            bladder cancer pathophysiology. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4206)
  AUTHORS   Liu C, Lei S, Cai T, Cheng Y, Bai J, Fu W and Huang M.
  TITLE     Inducible nitric oxide synthase activity mediates TNF-alpha-induced
            endothelial cell dysfunction
  JOURNAL   Am J Physiol Cell Physiol 325 (3), C780-C795 (2023)
   PUBMED   37575057
  REMARK    GeneRIF: Inducible nitric oxide synthase activity mediates
            TNF-alpha-induced endothelial cell dysfunction.
REFERENCE   3  (bases 1 to 4206)
  AUTHORS   Tanomrat R, Naktubtim C, Aimvijarn P and Suwannalert P.
  TITLE     N-acetylcysteine improves the inhibitory effect of Quercetin-rich
            onion extract on HT-29 and HCT-116 colorectal cancer migration and
            invasion through iNOS suppression
  JOURNAL   Int J Med Sci 20 (9), 1123-1134 (2023)
   PUBMED   37575276
  REMARK    GeneRIF: N-acetylcysteine improves the inhibitory effect of
            Quercetin-rich onion extract on HT-29 and HCT-116 colorectal cancer
            migration and invasion through iNOS suppression. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 4206)
  AUTHORS   Song CS, Zhang P, Lin QR, Hu YY, Pan CQ, Jiang N and Hu YJ.
  TITLE     Nitric oxide synthase 2 genetic variation rs2297514 associates with
            a decreased susceptibility to extremity post-traumatic osteomyelitis
            in a Chinese Han population
  JOURNAL   Front Cell Infect Microbiol 13, 1177830 (2023)
   PUBMED   37465758
  REMARK    GeneRIF: Nitric oxide synthase 2 genetic variation rs2297514
            associates with a decreased susceptibility to extremity
            post-traumatic osteomyelitis in a Chinese Han population.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4206)
  AUTHORS   Barragan M, Cornet-Bartolome D, Molina N and Vassena R.
  TITLE     The expression levels of NOS2, HMOX1, and VEGFC in cumulus cells are
            markers of oocyte maturation and fertilization rate
  JOURNAL   Mol Reprod Dev 90 (6), 369-377 (2023)
   PUBMED   37486100
  REMARK    GeneRIF: The expression levels of NOS2, HMOX1, and VEGFC in cumulus
            cells are markers of oocyte maturation and fertilization rate.
REFERENCE   6  (bases 1 to 4206)
  AUTHORS   Asano K, Chee CB, Gaston B, Lilly CM, Gerard C, Drazen JM and
            Stamler JS.
  TITLE     Constitutive and inducible nitric oxide synthase gene expression,
            regulation, and activity in human lung epithelial cells
  JOURNAL   Proc Natl Acad Sci U S A 91 (21), 10089-10093 (1994)
   PUBMED   7524082
REFERENCE   7  (bases 1 to 4206)
  AUTHORS   Maier R, Bilbe G, Rediske J and Lotz M.
  TITLE     Inducible nitric oxide synthase from human articular chondrocytes:
            cDNA cloning and analysis of mRNA expression
  JOURNAL   Biochim Biophys Acta 1208 (1), 145-150 (1994)
   PUBMED   7522054
REFERENCE   8  (bases 1 to 4206)
  AUTHORS   Chartrain NA, Geller DA, Koty PP, Sitrin NF, Nussler AK, Hoffman EP,
            Billiar TR, Hutchinson NI and Mudgett JS.
  TITLE     Molecular cloning, structure, and chromosomal localization of the
            human inducible nitric oxide synthase gene
  JOURNAL   J Biol Chem 269 (9), 6765-6772 (1994)
   PUBMED   7509810
REFERENCE   9  (bases 1 to 4206)
  AUTHORS   Marsden PA, Heng HH, Duff CL, Shi XM, Tsui LC and Hall AV.
  TITLE     Localization of the human gene for inducible nitric oxide synthase
            (NOS2) to chromosome 17q11.2-q12
  JOURNAL   Genomics 19 (1), 183-185 (1994)
   PUBMED   7514565
REFERENCE   10  (bases 1 to 4206)
  AUTHORS   Charles IG, Palmer RM, Hickery MS, Bayliss MT, Chubb AP, Hall VS,
            Moss DW and Moncada S.
  TITLE     Cloning, characterization, and expression of a cDNA encoding an
            inducible nitric oxide synthase from the human chondrocyte
  JOURNAL   Proc Natl Acad Sci U S A 90 (23), 11419-11423 (1993)
   PUBMED   7504305
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U31511.1, X73029.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000313735.11/ ENSP00000327251.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC130289.11.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 25, 2008 this sequence version replaced NM_000625.3.
            Summary: Nitric oxide is a reactive free radical which acts as a
            biologic mediator in several processes, including neurotransmission
            and antimicrobial and antitumoral activities. This gene encodes a
            nitric oxide synthase which is expressed in liver and is inducible
            by a combination of lipopolysaccharide and certain cytokines. Three
            related pseudogenes are located within the Smith-Magenis syndrome
            region on chromosome 17. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4206
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..4206
                     /gene="NOS2"
                     /gene_synonym="HEP-NOS; INOS; NOS; NOS2A"
                     /note="nitric oxide synthase 2"
                     /db_xref="GeneID:4843"
                     /db_xref="HGNC:HGNC:7873"
                     /db_xref="MIM:163730"
     misc_feature    211..213
                     /gene="NOS2"
                     /gene_synonym="HEP-NOS; INOS; NOS; NOS2A"
                     /note="upstream in-frame stop codon"
     CDS             265..3726
                     /gene="NOS2"
                     /gene_synonym="HEP-NOS; INOS; NOS; NOS2A"
                     /EC_number="1.14.13.39"
                     /note="nitric oxide synthase 2A (inducible, hepatocytes);
                     NOS, type II; nitric oxide synthase, macrophage; inducible
                     NOS; hepatocyte NOS; inducible NO synthase;
                     peptidyl-cysteine S-nitrosylase NOS2; nitric oxide synthase
                     2, inducible"
                     /codon_start=1
                     /product="nitric oxide synthase, inducible"
                     /protein_id="NP_000616.3"
                     /db_xref="CCDS:CCDS11223.1"
                     /db_xref="GeneID:4843"
                     /db_xref="HGNC:HGNC:7873"
                     /db_xref="MIM:163730"
                     /translation="MACPWKFLFKTKFHQYAMNGEKDINNNVEKAPCATSSPVTQDDLQ
                     YHNLSKQQNESPQPLVETGKKSPESLVKLDATPLSSPRHVRIKNWGSGMTFQDTLHHKA
                     KGILTCRSKSCLGSIMTPKSLTRGPRDKPTPPDELLPQAIEFVNQYYGSFKEAKIEEHL
                     ARVEAVTKEIETTGTYQLTGDELIFATKQAWRNAPRCIGRIQWSNLQVFDARSCSTARE
                     MFEHICRHVRYSTNNGNIRSAITVFPQRSDGKHDFRVWNAQLIRYAGYQMPDGSIRGDP
                     ANVEFTQLCIDLGWKPKYGRFDVVPLVLQANGRDPELFEIPPDLVLEVAMEHPKYEWFR
                     ELELKWYALPAVANMLLEVGGLEFPGCPFNGWYMGTEIGVRDFCDVQRYNILEEVGRRM
                     GLETHKLASLWKDQAVVEINIAVLHSFQKQNVTIMDHHSAAESFMKYMQNEYRSRGGCP
                     ADWIWLVPPMSGSITPVFHQEMLNYVLSPFYYYQVEAWKTHVWQDEKRRPKRREIPLKV
                     LVKAVLFACMLMRKTMASRVRVTILFATETGKSEALAWDLGALFSCAFNPKVVCMDKYR
                     LSCLEEERLLLVVTSTFGNGDCPGNGEKLKKSLFMLKELNNKFRYAVFGLGSSMYPRFC
                     AFAHDIDQKLSHLGASQLTPMGEGDELSGQEDAFRSWAVQTFKAACETFDVRGKQHIQI
                     PKLYTSNVTWDPHHYRLVQDSQPLDLSKALSSMHAKNVFTMRLKSRQNLQSPTSSRATI
                     LVELSCEDGQGLNYLPGEHLGVCPGNQPALVQGILERVVDGPTPHQTVRLEALDESGSY
                     WVSDKRLPPCSLSQALTYFLDITTPPTQLLLQKLAQVATEEPERQRLEALCQPSEYSKW
                     KFTNSPTFLEVLEEFPSLRVSAGFLLSQLPILKPRFYSISSSRDHTPTEIHLTVAVVTY
                     HTRDGQGPLHHGVCSTWLNSLKPQDPVPCFVRNASGFHLPEDPSHPCILIGPGTGIAPF
                     RSFWQQRLHDSQHKGVRGGRMTLVFGCRRPDEDHIYQEEMLEMAQKGVLHAVHTAYSRL
                     PGKPKVYVQDILRQQLASEVLRVLHKEPGHLYVCGDVRMARDVAHTLKQLVAAKLKLNE
                     EQVEDYFFQLKSQKRYHEDIFGAVFPYEAKKDRVAVQPSSLEMSAL"
     misc_feature    331..345
                     /gene="NOS2"
                     /gene_synonym="HEP-NOS; INOS; NOS; NOS2A"
                     /note="propagated from UniProtKB/Swiss-Prot (P35228.2);
                     Region: DINNN-motif, mediates interaction with SPSB1, SPSB2
                     and SPSB4. /evidence=ECO:0000269|PubMed:21199876"
     misc_feature    964..966
                     /gene="NOS2"
                     /gene_synonym="HEP-NOS; INOS; NOS; NOS2A"
                     /note="Phosphoserine, by PKA. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P35228.2);
                     phosphorylation site"
     misc_feature    1789..1851
                     /gene="NOS2"
                     /gene_synonym="HEP-NOS; INOS; NOS; NOS2A"
                     /note="propagated from UniProtKB/Swiss-Prot (P35228.2);
                     Region: Calmodulin-binding. /evidence=ECO:0000255"
     misc_feature    1987..1989
                     /gene="NOS2"
                     /gene_synonym="HEP-NOS; INOS; NOS; NOS2A"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q06518; propagated from
                     UniProtKB/Swiss-Prot (P35228.2); phosphorylation site"
     misc_feature    1996..1998
                     /gene="NOS2"
                     /gene_synonym="HEP-NOS; INOS; NOS; NOS2A"
                     /note="Phosphoserine, by PKA. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P35228.2);
                     phosphorylation site"
     misc_feature    2938..2940
                     /gene="NOS2"
                     /gene_synonym="HEP-NOS; INOS; NOS; NOS2A"
                     /note="Phosphoserine, by PKA. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P35228.2);
                     phosphorylation site"
     polyA_site      4206
                     /gene="NOS2"
                     /gene_synonym="HEP-NOS; INOS; NOS; NOS2A"
                     /note="major polyA site"
ORIGIN
        1 ataactttgt agcgagtcga aaactgaggc tccggccgca gagaactcag cctcattcct
       61 gctttaaaat ctctcggcca cctttgatga ggggactggg cagttctaga cagtcccgaa
      121 gttctcaagg cacaggtctc ttcctggttt gactgtcctt accccgggga ggcagtgcag
      181 ccagctgcaa gccccacagt gaagaacatc tgagctcaaa tccagataag tgacataagt
      241 gacctgcttt gtaaagccat agagatggcc tgtccttgga aatttctgtt caagaccaaa
      301 ttccaccagt atgcaatgaa tggggaaaaa gacatcaaca acaatgtgga gaaagccccc
      361 tgtgccacct ccagtccagt gacacaggat gaccttcagt atcacaacct cagcaagcag
      421 cagaatgagt ccccgcagcc cctcgtggag acgggaaaga agtctccaga atctctggtc
      481 aagctggatg caaccccatt gtcctcccca cggcatgtga ggatcaaaaa ctggggcagc
      541 gggatgactt tccaagacac acttcaccat aaggccaaag ggattttaac ttgcaggtcc
      601 aaatcttgcc tggggtccat tatgactccc aaaagtttga ccagaggacc cagggacaag
      661 cctacccctc cagatgagct tctacctcaa gctatcgaat ttgtcaacca atattacggc
      721 tccttcaaag aggcaaaaat agaggaacat ctggccaggg tggaagcggt aacaaaggag
      781 atagaaacaa caggaaccta ccaactgacg ggagatgagc tcatcttcgc caccaagcag
      841 gcctggcgca atgccccacg ctgcattggg aggatccagt ggtccaacct gcaggtcttc
      901 gatgcccgca gctgttccac tgcccgggaa atgtttgaac acatctgcag acacgtgcgt
      961 tactccacca acaatggcaa catcaggtcg gccatcaccg tgttccccca gcggagtgat
     1021 ggcaagcacg acttccgggt gtggaatgct cagctcatcc gctatgctgg ctaccagatg
     1081 ccagatggca gcatcagagg ggaccctgcc aacgtggaat tcactcagct gtgcatcgac
     1141 ctgggctgga agcccaagta cggccgcttc gatgtggtcc ccctggtcct gcaggccaat
     1201 ggccgtgacc ctgagctctt cgaaatccca cctgaccttg tgcttgaggt ggccatggaa
     1261 catcccaaat acgagtggtt tcgggaactg gagctaaagt ggtacgccct gcctgcagtg
     1321 gccaacatgc tgcttgaggt gggcggcctg gagttcccag ggtgcccctt caatggctgg
     1381 tacatgggca cagagatcgg agtccgggac ttctgtgacg tccagcgcta caacatcctg
     1441 gaggaagtgg gcaggagaat gggcctggaa acgcacaagc tggcctcgct ctggaaagac
     1501 caggctgtcg ttgagatcaa cattgctgtg ctccatagtt tccagaagca gaatgtgacc
     1561 atcatggacc accactcggc tgcagaatcc ttcatgaagt acatgcagaa tgaataccgg
     1621 tcccgtgggg gctgcccggc agactggatt tggctggtcc ctcccatgtc tgggagcatc
     1681 acccccgtgt ttcaccagga gatgctgaac tacgtcctgt cccctttcta ctactatcag
     1741 gtagaggcct ggaaaaccca tgtctggcag gacgagaagc ggagacccaa gagaagagag
     1801 attccattga aagtcttggt caaagctgtg ctctttgcct gtatgctgat gcgcaagaca
     1861 atggcgtccc gagtcagagt caccatcctc tttgcgacag agacaggaaa atcagaggcg
     1921 ctggcctggg acctgggggc cttattcagc tgtgccttca accccaaggt tgtctgcatg
     1981 gataagtaca ggctgagctg cctggaggag gaacggctgc tgttggtggt gaccagtacg
     2041 tttggcaatg gagactgccc tggcaatgga gagaaactga agaaatcgct cttcatgctg
     2101 aaagagctca acaacaaatt caggtacgct gtgtttggcc tcggctccag catgtaccct
     2161 cggttctgcg cctttgctca tgacattgat cagaagctgt cccacctggg ggcctctcag
     2221 ctcaccccga tgggagaagg ggatgagctc agtgggcagg aggacgcctt ccgcagctgg
     2281 gccgtgcaaa ccttcaaggc agcctgtgag acgtttgatg tccgaggcaa acagcacatt
     2341 cagatcccca agctctacac ctccaatgtg acctgggacc cgcaccacta caggctcgtg
     2401 caggactcac agcctttgga cctcagcaaa gccctcagca gcatgcatgc caagaacgtg
     2461 ttcaccatga ggctcaaatc tcggcagaat ctacaaagtc cgacatccag ccgtgccacc
     2521 atcctggtgg aactctcctg tgaggatggc caaggcctga actacctgcc gggggagcac
     2581 cttggggttt gcccaggcaa ccagccggcc ctggtccaag gtatcctgga gcgagtggtg
     2641 gatggcccca caccccacca gacagtgcgc ctggaggccc tggatgagag tggcagctac
     2701 tgggtcagtg acaagaggct gcccccctgc tcactcagcc aggccctcac ctacttcctg
     2761 gacatcacca cacccccaac ccagctgctg ctccaaaagc tggcccaggt ggccacagaa
     2821 gagcctgaga gacagaggct ggaggccctg tgccagccct cagagtacag caagtggaag
     2881 ttcaccaaca gccccacatt cctggaggtg ctagaggagt tcccgtccct gcgggtgtct
     2941 gctggcttcc tgctttccca gctccccatt ctgaagccca ggttctactc catcagctcc
     3001 tcccgggatc acacgcccac agagatccac ctgactgtgg ccgtggtcac ctaccacacc
     3061 cgagatggcc agggtcccct gcaccacggc gtctgcagca catggctcaa cagcctgaag
     3121 ccccaagacc cagtgccctg ctttgtgcgg aatgccagcg gcttccacct ccccgaggat
     3181 ccctcccatc cttgcatcct catcgggcct ggcacaggca tcgcgccctt ccgcagtttc
     3241 tggcagcaac ggctccatga ctcccagcac aagggagtgc ggggaggccg catgaccttg
     3301 gtgtttgggt gccgccgccc agatgaggac cacatctacc aggaggagat gctggagatg
     3361 gcccagaagg gggtgctgca tgcggtgcac acagcctatt cccgcctgcc tggcaagccc
     3421 aaggtctatg ttcaggacat cctgcggcag cagctggcca gcgaggtgct ccgtgtgctc
     3481 cacaaggagc caggccacct ctatgtttgc ggggatgtgc gcatggcccg ggacgtggcc
     3541 cacaccctga agcagctggt ggctgccaag ctgaaattga atgaggagca ggtcgaggac
     3601 tatttctttc agctcaagag ccagaagcgc tatcacgaag atatctttgg tgctgtattt
     3661 ccttacgagg cgaagaagga cagggtggcg gtgcagccca gcagcctgga gatgtcagcg
     3721 ctctgagggc ctacaggagg ggttaaagct gccggcacag aacttaagga tggagccagc
     3781 tctgcattat ctgaggtcac agggcctggg gagatggagg aaagtgatat cccccagcct
     3841 caagtcttat ttcctcaacg ttgctcccca tcaagccctt tacttgacct cctaacaagt
     3901 agcaccctgg attgatcgga gcctcctctc tcaaactggg gcctccctgg tcccttggag
     3961 acaaaatctt aaatgccagg cctggcaagt gggtgaaaga tggaacttgc tgctgagtgc
     4021 accacttcaa gtgaccacca ggaggtgcta tcgcaccact gtgtatttaa ctgccttgtg
     4081 tacagttatt tatgcctctg tatttaaaaa actaacaccc agtctgttcc ccatggccac
     4141 ttgggtcttc cctgtatgat tccttgatgg agatatttac atgaattgca ttttacttta
     4201 atcaca
//
LOCUS       NM_000626               1246 bp    mRNA    linear   PRI 08-JUL-2023
DEFINITION  Homo sapiens CD79b molecule (CD79B), transcript variant 1, mRNA.
ACCESSION   NM_000626
VERSION     NM_000626.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1246)
  AUTHORS   Kirkegaard MK, Minderman M, Sjo LD, Pals ST, Eriksen PRG and
            Heegaard S.
  TITLE     Prevalence and prognostic value of MYD88 and CD79B mutations in
            ocular adnexal large B-cell lymphoma: a reclassification of ocular
            adnexal large B-cell lymphoma
  JOURNAL   Br J Ophthalmol 107 (4), 576-581 (2023)
   PUBMED   34706861
  REMARK    GeneRIF: Prevalence and prognostic value of MYD88 and CD79B
            mutations in ocular adnexal large B-cell lymphoma: a
            reclassification of ocular adnexal large B-cell lymphoma.
REFERENCE   2  (bases 1 to 1246)
  AUTHORS   Yamaguchi J, Ohka F, Lushun C, Motomura K, Aoki K, Takeuchi K,
            Nagata Y, Ito S, Mizutani N, Ohno M, Suzaki N, Takasu S, Seki Y,
            Kano T, Wakabayashi K, Oyama H, Kurahashi S, Tanahashi K, Hirano M,
            Shimizu H, Kitano Y, Maeda S, Yamazaki S, Wakabayashi T, Kondo Y,
            Natsume A and Saito R.
  TITLE     CD79B Y196 mutation is a potent predictive marker for favorable
            response to R-MPV in primary central nervous system lymphoma
  JOURNAL   Cancer Med 12 (6), 7116-7126 (2023)
   PUBMED   36478416
  REMARK    GeneRIF: CD79B Y196 mutation is a potent predictive marker for
            favorable response to R-MPV in primary central nervous system
            lymphoma.
REFERENCE   3  (bases 1 to 1246)
  AUTHORS   Xu PP, Shen R, Shi ZY, Cheng S, Wang L, Liu Y, Zhang L, Huang R, Ma
            X, Wu X, Yao H, Yu Y and Zhao WL.
  TITLE     The Prognostic Significance of CD79B Mutation in Diffuse Large
            B-Cell Lymphoma: A Meta-analysis and Systematic Literature Review
  JOURNAL   Clin Lymphoma Myeloma Leuk 22 (12), e1051-e1058.e1 (2022)
   PUBMED   36182550
  REMARK    GeneRIF: The Prognostic Significance of CD79B Mutation in Diffuse
            Large B-Cell Lymphoma: A Meta-analysis and Systematic Literature
            Review. Review article
REFERENCE   4  (bases 1 to 1246)
  AUTHORS   Huse K, Bai B, Hilden VI, Bollum LK, Vatsveen TK, Munthe LA, Smeland
            EB, Irish JM, Walchli S and Myklebust JH.
  TITLE     Mechanism of CD79A and CD79B Support for IgM+ B Cell Fitness through
            B Cell Receptor Surface Expression
  JOURNAL   J Immunol 209 (10), 2042-2053 (2022)
   PUBMED   36426942
  REMARK    GeneRIF: Mechanism of CD79A and CD79B Support for IgM+ B Cell
            Fitness through B Cell Receptor Surface Expression.
REFERENCE   5  (bases 1 to 1246)
  AUTHORS   Genebrier S, Fusaro M, Lambert N, Roullaud S, Millot F and Picard C.
  TITLE     A New Missense Mutation in CD79B Leads to Autosomal Recessive
            Agammaglobulinemia in Two Siblings
  JOURNAL   J Clin Immunol 41 (6), 1356-1360 (2021)
   PUBMED   33733381
  REMARK    GeneRIF: A New Missense Mutation in CD79B Leads to Autosomal
            Recessive Agammaglobulinemia in Two Siblings.
REFERENCE   6  (bases 1 to 1246)
  AUTHORS   Brown VK, Ogle EW, Burkhardt AL, Rowley RB, Bolen JB and Justement
            LB.
  TITLE     Multiple components of the B cell antigen receptor complex associate
            with the protein tyrosine phosphatase, CD45
  JOURNAL   J Biol Chem 269 (25), 17238-17244 (1994)
   PUBMED   7516335
REFERENCE   7  (bases 1 to 1246)
  AUTHORS   Vasile S, Coligan JE, Yoshida M and Seon BK.
  TITLE     Isolation and chemical characterization of the human B29 and mb-1
            proteins of the B cell antigen receptor complex
  JOURNAL   Mol Immunol 31 (6), 419-427 (1994)
   PUBMED   7514267
REFERENCE   8  (bases 1 to 1246)
  AUTHORS   Lankester AC, van Schijndel GM, Cordell JL, van Noesel CJ and van
            Lier RA.
  TITLE     CD5 is associated with the human B cell antigen receptor complex
  JOURNAL   Eur J Immunol 24 (4), 812-816 (1994)
   PUBMED   7512031
REFERENCE   9  (bases 1 to 1246)
  AUTHORS   Muller B, Cooper L and Terhorst C.
  TITLE     Cloning and sequencing of the cDNA encoding the human homologue of
            the murine immunoglobulin-associated protein B29
  JOURNAL   Eur J Immunol 22 (6), 1621-1625 (1992)
   PUBMED   1534761
REFERENCE   10  (bases 1 to 1246)
  AUTHORS   Reth M.
  TITLE     Antigen receptors on B lymphocytes
  JOURNAL   Annu Rev Immunol 10, 97-121 (1992)
   PUBMED   1591006
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.327065.1, BC002975.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2149876
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000006750.8/ ENSP00000006750.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M89957.1, AC127029.12 and
            AA804163.1.
            On Jun 2, 2019 this sequence version replaced NM_000626.3.
            Summary: The B lymphocyte antigen receptor is a multimeric complex
            that includes the antigen-specific component, surface
            immunoglobulin (Ig). Surface Ig non-covalently associates with two
            other proteins, Ig-alpha and Ig-beta, which are necessary for
            expression and function of the B-cell antigen receptor. This gene
            encodes the Ig-beta protein of the B-cell antigen component.
            Alternatively spliced transcript variants encoding different
            isoforms have been described. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 3. The
            encoded isoform (1) is shorter compared to isoform 3, but has
            identical N- and C- termini.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1246
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     gene            1..1246
                     /gene="CD79B"
                     /gene_synonym="AGM6; B29; IGB; Igbeta"
                     /note="CD79b molecule"
                     /db_xref="GeneID:974"
                     /db_xref="HGNC:HGNC:1699"
                     /db_xref="MIM:147245"
     CDS             71..760
                     /gene="CD79B"
                     /gene_synonym="AGM6; B29; IGB; Igbeta"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; B-cell-specific glycoprotein B29; CD79b antigen
                     (immunoglobulin-associated beta); Ig-beta; B-cell antigen
                     receptor complex-associated protein beta chain;
                     immunoglobulin-associated B29 protein; CD79b molecule,
                     immunoglobulin-associated beta"
                     /codon_start=1
                     /product="B-cell antigen receptor complex-associated
                     protein beta chain isoform 1 precursor"
                     /protein_id="NP_000617.1"
                     /db_xref="CCDS:CCDS11655.1"
                     /db_xref="GeneID:974"
                     /db_xref="HGNC:HGNC:1699"
                     /db_xref="MIM:147245"
                     /translation="MARLALSPVPSHWMVALLLLLSAEPVPAARSEDRYRNPKGSACSR
                     IWQSPRFIARKRGFTVKMHCYMNSASGNVSWLWKQEMDENPQQLKLEKGRMEESQNESL
                     ATLTIQGIRFEDNGIYFCQQKCNNTSEVYQGCGTELRVMGFSTLAQLKQRNTLKDGIIM
                     IQTLLIILFIIVPIFLLLDKDDSKAGMEEDHTYEGLDIDQTATYEDIVTLRTGEVKWSV
                     GEHPGQE"
     sig_peptide     71..154
                     /gene="CD79B"
                     /gene_synonym="AGM6; B29; IGB; Igbeta"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     155..757
                     /gene="CD79B"
                     /gene_synonym="AGM6; B29; IGB; Igbeta"
                     /product="B-cell antigen receptor complex-associated
                     protein beta chain. /id=PRO_0000014560"
                     /note="propagated from UniProtKB/Swiss-Prot (P40259.1)"
     misc_feature    287..289
                     /gene="CD79B"
                     /gene_synonym="AGM6; B29; IGB; Igbeta"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P40259.1); glycosylation site"
     misc_feature    371..373
                     /gene="CD79B"
                     /gene_synonym="AGM6; B29; IGB; Igbeta"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P40259.1); glycosylation site"
     misc_feature    449..451
                     /gene="CD79B"
                     /gene_synonym="AGM6; B29; IGB; Igbeta"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P40259.1); glycosylation site"
     misc_feature    452..454
                     /gene="CD79B"
                     /gene_synonym="AGM6; B29; IGB; Igbeta"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P40259.1); glycosylation site"
     misc_feature    548..610
                     /gene="CD79B"
                     /gene_synonym="AGM6; B29; IGB; Igbeta"
                     /note="propagated from UniProtKB/Swiss-Prot (P40259.1);
                     transmembrane region"
     misc_feature    656..658
                     /gene="CD79B"
                     /gene_synonym="AGM6; B29; IGB; Igbeta"
                     /note="Phosphotyrosine, by SRC-type Tyr-kinases.
                     /evidence=ECO:0000250|UniProtKB:P15530,
                     ECO:0000255|PROSITE-ProRule:PRU00379; propagated from
                     UniProtKB/Swiss-Prot (P40259.1); phosphorylation site"
     misc_feature    689..691
                     /gene="CD79B"
                     /gene_synonym="AGM6; B29; IGB; Igbeta"
                     /note="Phosphotyrosine, by SRC-type Tyr-kinases.
                     /evidence=ECO:0000250|UniProtKB:P15530,
                     ECO:0000255|PROSITE-ProRule:PRU00379; propagated from
                     UniProtKB/Swiss-Prot (P40259.1); phosphorylation site"
     regulatory      1221..1226
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD79B"
                     /gene_synonym="AGM6; B29; IGB; Igbeta"
                     /note="hexamer: AATAAA"
     polyA_site      1246
                     /gene="CD79B"
                     /gene_synonym="AGM6; B29; IGB; Igbeta"
                     /note="major polyA site"
ORIGIN
        1 agttacacgt tttcctccaa ggagcctcgg acgttgtcac gggtttgggg tcggggacag
       61 agcggtgacc atggccaggc tggcgttgtc tcctgtgccc agccactgga tggtggcgtt
      121 gctgctgctg ctctcagctg agccagtacc agcagccaga tcggaggacc ggtaccggaa
      181 tcccaaaggt agtgcttgtt cgcggatctg gcagagccca cgtttcatag ccaggaaacg
      241 gggcttcacg gtgaaaatgc actgctacat gaacagcgcc tccggcaatg tgagctggct
      301 ctggaagcag gagatggacg agaatcccca gcagctgaag ctggaaaagg gccgcatgga
      361 agagtcccag aacgaatctc tcgccaccct caccatccaa ggcatccggt ttgaggacaa
      421 tggcatctac ttctgtcagc agaagtgcaa caacacctcg gaggtctacc agggctgcgg
      481 cacagagctg cgagtcatgg gattcagcac cttggcacag ctgaagcaga ggaacacgct
      541 gaaggatggt atcatcatga tccagacgct gctgatcatc ctcttcatca tcgtgcctat
      601 cttcctgctg ctggacaagg atgacagcaa ggctggcatg gaggaagatc acacctacga
      661 gggcctggac attgaccaga cagccaccta tgaggacata gtgacgctgc ggacagggga
      721 agtgaagtgg tctgtaggtg agcacccagg ccaggagtga gagccaggtc gccccatgac
      781 ctgggtgcag gctccctggc ctcagtgact gcttcggagc tgcctggctc atggcccaac
      841 ccctttcctg gaccccccag ctggcctctg aagctggccc accagagctg ccatttgtct
      901 ccagcccctg gtccccagct cttgccaaag ggcctggagt agaaggacaa cagggcagca
      961 acttggaggg agttctctgg ggatggacgg gacccagcct tctgggggtg ctatgaggtg
     1021 atccgtcccc acacatggga tgggggaggc agagactggt ccagagcccg caaatggact
     1081 cggagccgag ggcctcccag cagagcttgg gaagggccat ggacccaact gggccccaga
     1141 agagccacag gaacatcatt cctctcccgc aaccactccc accccaggga ggccctggcc
     1201 tccagtgcct tcccccgtgg aataaacggt gtgtcctgag aaacca
//
LOCUS       NM_000628               1941 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens interleukin 10 receptor subunit beta (IL10RB),
            transcript variant 1, mRNA.
ACCESSION   NM_000628
VERSION     NM_000628.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1941)
  AUTHORS   Grk M, Miskovic R, Jeremic I, Basaric M, Dusanovic Pjevic M, Jekic
            B, Miljanovic D, Lazarevic I, Despotovic A, Cirkovic A and Banko A.
  TITLE     Association of IL10RA, IL10RB, and IL22RA Polymorphisms/Haplotypes
            with Susceptibility to and Clinical Manifestations of SLE
  JOURNAL   Int J Mol Sci 24 (14), 11292 (2023)
   PUBMED   37511050
  REMARK    GeneRIF: Association of IL10RA, IL10RB, and IL22RA
            Polymorphisms/Haplotypes with Susceptibility to and Clinical
            Manifestations of SLE. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1941)
  AUTHORS   Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA,
            Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X, Elliott
            KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang B, Rhodes
            D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P, Donovan S,
            Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe F, Todd L,
            Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch C, Rendon A,
            Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras A, Abecasis
            GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M, Rader DJ,
            Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers C, Hinds C,
            Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Elliott P,
            Walsh T, Tenesa A, Fawkes A, Murphy L, Rowan K, Ponting CP, Vitart
            V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry SC, Moutsianas
            L, Law A, Caulfield MJ and Baillie JK.
  CONSRTM   GenOMICC investigators; 23andMe investigators; COVID-19 Human
            Genetics Initiative
  TITLE     Whole-genome sequencing reveals host factors underlying critical
            COVID-19
  JOURNAL   Nature 607 (7917), 97-103 (2022)
   PUBMED   35255492
REFERENCE   3  (bases 1 to 1941)
  AUTHORS   Maculewicz E, Dzitkowska-Zabielska M, Antkowiak B, Antkowiak O,
            Mastalerz A, Garbacz A, Massidda M, Bojarczuk A, Dziuda L and
            Cieszczyk P.
  TITLE     Association of Interleukin Genes IL10 and IL10RB with Parameters of
            Overweight in Military Students
  JOURNAL   Genes (Basel) 13 (2), 291 (2022)
   PUBMED   35205336
  REMARK    GeneRIF: Association of Interleukin Genes IL10 and IL10RB with
            Parameters of Overweight in Military Students. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 1941)
  AUTHORS   Luo S, Dong X, Guo S, Wang Q, Dai X, Jiang Y, Zhu W, Zhou W and Song
            W.
  TITLE     Regulation of the Human IL-10RB Gene Expression by Sp8 and Sp9
  JOURNAL   J Alzheimers Dis 88 (4), 1469-1485 (2022)
   PUBMED   35811529
  REMARK    GeneRIF: Regulation of the Human IL-10RB Gene Expression by Sp8 and
            Sp9.
REFERENCE   5  (bases 1 to 1941)
  AUTHORS   Ma Y, Huang Y, Zhao S, Yao Y, Zhang Y, Qu J, Wu N and Su J.
  TITLE     Integrative genomics analysis reveals a 21q22.11 locus contributing
            risk to COVID-19
  JOURNAL   Hum Mol Genet 30 (13), 1247-1258 (2021)
   PUBMED   33949668
  REMARK    GeneRIF: Integrative genomics analysis reveals a 21q22.11 locus
            contributing risk to COVID-19.
REFERENCE   6  (bases 1 to 1941)
  AUTHORS   Spencer SD, Di Marco F, Hooley J, Pitts-Meek S, Bauer M, Ryan AM,
            Sordat B, Gibbs VC and Aguet M.
  TITLE     The orphan receptor CRF2-4 is an essential subunit of the
            interleukin 10 receptor
  JOURNAL   J Exp Med 187 (4), 571-578 (1998)
   PUBMED   9463407
REFERENCE   7  (bases 1 to 1941)
  AUTHORS   Kotenko SV, Krause CD, Izotova LS, Pollack BP, Wu W and Pestka S.
  TITLE     Identification and functional characterization of a second chain of
            the interleukin-10 receptor complex
  JOURNAL   EMBO J 16 (19), 5894-5903 (1997)
   PUBMED   9312047
REFERENCE   8  (bases 1 to 1941)
  AUTHORS   Gibbs VC and Pennica D.
  TITLE     CRF2-4: isolation of cDNA clones encoding the human and mouse
            proteins
  JOURNAL   Gene 186 (1), 97-101 (1997)
   PUBMED   9047351
REFERENCE   9  (bases 1 to 1941)
  AUTHORS   Lutfalla G, McInnis MG, Antonarakis SE and Uze G.
  TITLE     Structure of the human CRFB4 gene: comparison with its IFNAR
            neighbor
  JOURNAL   J Mol Evol 41 (3), 338-344 (1995)
   PUBMED   7563119
REFERENCE   10  (bases 1 to 1941)
  AUTHORS   Lutfalla G, Gardiner K and Uze G.
  TITLE     A new member of the cytokine receptor gene family maps on chromosome
            21 at less than 35 kb from IFNAR
  JOURNAL   Genomics 16 (2), 366-373 (1993)
   PUBMED   8314576
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.681251.1,
            SRR5189667.251949.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
            variant(s)
            MANE Ensembl match          :: ENST00000290200.7/ ENSP00000290200.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU133530.2, BC001903.1,
            Z17227.1 and AI025402.1.
            On Nov 22, 2018 this sequence version replaced NM_000628.4.
            Summary: The protein encoded by this gene belongs to the cytokine
            receptor family. It is an accessory chain essential for the active
            interleukin 10 receptor complex. Coexpression of this and IL10RA
            proteins has been shown to be required for IL10-induced signal
            transduction. This gene and three other interferon receptor genes,
            IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene
            cluster located in a small region on chromosome 21. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1941
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     gene            1..1941
                     /gene="IL10RB"
                     /gene_synonym="CDW210B; CRF2-4; CRFB4; D21S58; D21S66;
                     IBD25; IL-10R2; IL-10RB"
                     /note="interleukin 10 receptor subunit beta"
                     /db_xref="GeneID:3588"
                     /db_xref="HGNC:HGNC:5965"
                     /db_xref="MIM:123889"
     CDS             100..1077
                     /gene="IL10RB"
                     /gene_synonym="CDW210B; CRF2-4; CRFB4; D21S58; D21S66;
                     IBD25; IL-10R2; IL-10RB"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; cytokine receptor class-II CRF2-4; cytokine receptor
                     family II, member 4; IL-10R subunit 2; IL-10R subunit beta;
                     IL-10 receptor subunit beta; interleukin 10 receptor, beta;
                     interleukin-10 receptor subunit 2; cytokine receptor
                     class-II member 4; cytokine receptor family 2 member 4"
                     /codon_start=1
                     /product="interleukin-10 receptor subunit beta isoform 1
                     precursor"
                     /protein_id="NP_000619.3"
                     /db_xref="CCDS:CCDS13623.1"
                     /db_xref="GeneID:3588"
                     /db_xref="HGNC:HGNC:5965"
                     /db_xref="MIM:123889"
                     /translation="MAWSLGSWLGGCLLVSALGMVPPPENVRMNSVNFKNILQWESPAF
                     AKGNLTFTAQYLSYRIFQDKCMNTTLTECDFSSLSKYGDHTLRVRAEFADEHSDWVNIT
                     FCPVDDTIIGPPGMQVEVLADSLHMRFLAPKIENEYETWTMKNVYNSWTYNVQYWKNGT
                     DEKFQITPQYDFEVLRNLEPWTTYCVQVRGFLPDRNKAGEWSEPVCEQTTHDETVPSWM
                     VAVILMASVFMVCLALLGCFALLWCVYKKTKYAFSPRNSLPQHLKEFLGHPHHNTLLFF
                     SFPLSDENDVFDKLSVIAEDSESGKQNPGDSCSLGTPPGQGPQS"
     sig_peptide     100..156
                     /gene="IL10RB"
                     /gene_synonym="CDW210B; CRF2-4; CRFB4; D21S58; D21S66;
                     IBD25; IL-10R2; IL-10RB"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     157..1074
                     /gene="IL10RB"
                     /gene_synonym="CDW210B; CRF2-4; CRFB4; D21S58; D21S66;
                     IBD25; IL-10R2; IL-10RB"
                     /product="Interleukin-10 receptor subunit beta.
                     /id=PRO_0000011014"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08334.2)"
     misc_feature    244..246
                     /gene="IL10RB"
                     /gene_synonym="CDW210B; CRF2-4; CRFB4; D21S58; D21S66;
                     IBD25; IL-10R2; IL-10RB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q08334.2); glycosylation site"
     misc_feature    301..303
                     /gene="IL10RB"
                     /gene_synonym="CDW210B; CRF2-4; CRFB4; D21S58; D21S66;
                     IBD25; IL-10R2; IL-10RB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q08334.2); glycosylation site"
     misc_feature    403..405
                     /gene="IL10RB"
                     /gene_synonym="CDW210B; CRF2-4; CRFB4; D21S58; D21S66;
                     IBD25; IL-10R2; IL-10RB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q08334.2); glycosylation site"
     misc_feature    580..582
                     /gene="IL10RB"
                     /gene_synonym="CDW210B; CRF2-4; CRFB4; D21S58; D21S66;
                     IBD25; IL-10R2; IL-10RB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q08334.2); glycosylation site"
     misc_feature    760..825
                     /gene="IL10RB"
                     /gene_synonym="CDW210B; CRF2-4; CRFB4; D21S58; D21S66;
                     IBD25; IL-10R2; IL-10RB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08334.2);
                     transmembrane region"
     misc_feature    1000..1074
                     /gene="IL10RB"
                     /gene_synonym="CDW210B; CRF2-4; CRFB4; D21S58; D21S66;
                     IBD25; IL-10R2; IL-10RB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08334.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1913..1918
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL10RB"
                     /gene_synonym="CDW210B; CRF2-4; CRFB4; D21S58; D21S66;
                     IBD25; IL-10R2; IL-10RB"
                     /note="hexamer: ATTAAA"
     polyA_site      1941
                     /gene="IL10RB"
                     /gene_synonym="CDW210B; CRF2-4; CRFB4; D21S58; D21S66;
                     IBD25; IL-10R2; IL-10RB"
                     /note="major polyA site"
ORIGIN
        1 atctccgctg gttcccggaa gccgccgcgg acaagctctc ccgggcgcgg gcgggggtcg
       61 tgtgcttgga ggaagccgcg gaacccccag cgtccgtcca tggcgtggag ccttgggagc
      121 tggctgggtg gctgcctgct ggtgtcagca ttgggaatgg taccacctcc cgaaaatgtc
      181 agaatgaatt ctgttaattt caagaacatt ctacagtggg agtcacctgc ttttgccaaa
      241 gggaacctga ctttcacagc tcagtaccta agttatagga tattccaaga taaatgcatg
      301 aatactacct tgacggaatg tgatttctca agtctttcca agtatggtga ccacaccttg
      361 agagtcaggg ctgaatttgc agatgagcat tcagactggg taaacatcac cttctgtcct
      421 gtggatgaca ccattattgg accccctgga atgcaagtag aagtacttgc tgattcttta
      481 catatgcgtt tcttagcccc taaaattgag aatgaatacg aaacttggac tatgaagaat
      541 gtgtataact catggactta taatgtgcaa tactggaaaa acggtactga tgaaaagttt
      601 caaattactc cccagtatga ctttgaggtc ctcagaaacc tggagccatg gacaacttat
      661 tgtgttcaag ttcgagggtt tcttcctgat cggaacaaag ctggggaatg gagtgagcct
      721 gtctgtgagc aaacaaccca tgacgaaacg gtcccctcct ggatggtggc cgtcatcctc
      781 atggcctcgg tcttcatggt ctgcctggca ctcctcggct gcttcgcctt gctgtggtgc
      841 gtttacaaga agacaaagta cgccttctcc cctaggaatt ctcttccaca gcacctgaaa
      901 gagtttttgg gccatcctca tcataacaca cttctgtttt tctcctttcc attgtcggat
      961 gagaatgatg tttttgacaa gctaagtgtc attgcagaag actctgagag cggcaagcag
     1021 aatcctggtg acagctgcag cctcgggacc ccgcctgggc aggggcccca aagctaggct
     1081 ctgagaagga aacacactcg gctgggcaca gtgacgtact ccatctcaca tctgcctcag
     1141 tgagggatca gggcagcaaa caagggccaa gaccatctga gccagcccca catctagaac
     1201 tcccagaccc tggacttagc caccagagag ctacatttta aaggctgtct tggcaaaaat
     1261 actccatttg ggaactcact gccttataaa ggctttcatg atgttttcag aagttggcca
     1321 ctgagagtgt aattttcagc cttttatatc actaaaataa gatcatgttt taattgtgag
     1381 aaacagggcc gagcacagtg gctcacgcct gtaataccag caccttagag gtcgaggcag
     1441 gcggatcact tgaggtcagg agttcaagac cagcctggcc aatatggtga aacccagtct
     1501 ctactaaaaa tacaaaaatt agctaggcat gatggcgcat gcctataatc ccagctactc
     1561 gagtgcctga ggcaggagaa ttgcatgaac ccgggaggag gaggaggagg ttgcagtgag
     1621 ccgagatagc ggcactgcac tccagcctgg gtgacaaagt gagactccat ctcaaaaaaa
     1681 aaaaaaaaaa aaattgtgag aaacagaaat acttaaaatg aggaataaga atggagatgt
     1741 tacatctggt agatgtaaca ttctaccaga ttatggatgg actgatctga aaatcgacct
     1801 caactcaagg gtggtcagct caatgctaca cagagcacgg acttttggat tctttgcagt
     1861 actttgaatt tatttttcta cctatatatg ttttatatgc tgctggtgct ccattaaagt
     1921 tttactctgt gttgcactat a
//
LOCUS       NM_000629               6075 bp    mRNA    linear   PRI 26-JUL-2023
DEFINITION  Homo sapiens interferon alpha and beta receptor subunit 1 (IFNAR1),
            transcript variant 2, mRNA.
ACCESSION   NM_000629
VERSION     NM_000629.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6075)
  AUTHORS   Yaugel-Novoa M, Bourlet T, Longet S, Botelho-Nevers E and Paul S.
  TITLE     Association of IFNAR1 and IFNAR2 with COVID-19 severity
  JOURNAL   Lancet Microbe 4 (7), e487 (2023)
   PUBMED   37028439
  REMARK    GeneRIF: Association of IFNAR1 and IFNAR2 with COVID-19 severity.
            Erratum:[Lancet Microbe. 2023 Jun;4(6):e394. PMID: 37068499]
REFERENCE   2  (bases 1 to 6075)
  AUTHORS   Xiong J, Jiang Y, Zhang J, Chen Y and Hu Y.
  TITLE     CK1alpha upregulates the IFNAR1 expression to prompt the anti-HBV
            effect of type I IFN in hepatoma carcinoma cells
  JOURNAL   Virol Sin 37 (6), 894-903 (2022)
   PUBMED   35985475
  REMARK    GeneRIF: CK1alpha upregulates the IFNAR1 expression to prompt the
            anti-HBV effect of type I IFN in hepatoma carcinoma cells.
REFERENCE   3  (bases 1 to 6075)
  AUTHORS   Yang L, Zhang X, Huang X, Dong X, Jing S, Zhang Y, Zhao B, Wang Z
            and Qu H.
  TITLE     Correlation between IFNAR1 expression in peripheral blood T
            lymphocytes and inflammatory cytokines, tumor-infiltrating
            lymphocytes, and chemosensitivity in patients with colorectal cancer
  JOURNAL   Cytokine 159, 156008 (2022)
   PUBMED   36063748
  REMARK    GeneRIF: Correlation between IFNAR1 expression in peripheral blood T
            lymphocytes and inflammatory cytokines, tumor-infiltrating
            lymphocytes, and chemosensitivity in patients with colorectal
            cancer.
REFERENCE   4  (bases 1 to 6075)
  AUTHORS   Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J,
            Liu Z, Moncada-Velez M, Kendir-Demirkol Y, Jing H, Bizien L, Marchal
            A, Abolhassani H, Delafontaine S, Bucciol G, Bayhan GI, Keles S,
            Kiykim A, Hancerli S, Haerynck F, Florkin B, Hatipoglu N, Ozcelik T,
            Morelle G, Zatz M, Ng LFP, Lye DC, Young BE, Leo YS, Dalgard CL,
            Lifton RP, Renia L, Meyts I, Jouanguy E, Hammarstrom L,
            Pan-Hammarstrom Q, Boisson B, Bastard P, Su HC, Boisson-Dupuis S,
            Abel L, Rice CM, Zhang SY, Cobat A and Casanova JL.
  CONSRTM   COVID Human Genetic Effort
  TITLE     Recessive inborn errors of type I IFN immunity in children with
            COVID-19 pneumonia
  JOURNAL   J Exp Med 219 (8) (2022)
   PUBMED   35708626
  REMARK    GeneRIF: Recessive inborn errors of type I IFN immunity in children
            with COVID-19 pneumonia.
REFERENCE   5  (bases 1 to 6075)
  AUTHORS   C West R, Ezashi T, B Schoolcraft W and Yuan Y.
  TITLE     Beyond fusion: A novel role for ERVW-1 in trophoblast proliferation
            and type I interferon receptor expression
  JOURNAL   Placenta 126, 150-159 (2022)
   PUBMED   35816776
  REMARK    GeneRIF: Beyond fusion: A novel role for ERVW-1 in trophoblast
            proliferation and type I interferon receptor expression.
REFERENCE   6  (bases 1 to 6075)
  AUTHORS   Colamonici O, Yan H, Domanski P, Handa R, Smalley D, Mullersman J,
            Witte M, Krishnan K and Krolewski J.
  TITLE     Direct binding to and tyrosine phosphorylation of the alpha subunit
            of the type I interferon receptor by p135tyk2 tyrosine kinase
  JOURNAL   Mol Cell Biol 14 (12), 8133-8142 (1994)
   PUBMED   7526154
REFERENCE   7  (bases 1 to 6075)
  AUTHORS   Lutfalla G, Gardiner K, Proudhon D, Vielh E and Uze G.
  TITLE     The structure of the human interferon alpha/beta receptor gene
  JOURNAL   J Biol Chem 267 (4), 2802-2809 (1992)
   PUBMED   1370833
REFERENCE   8  (bases 1 to 6075)
  AUTHORS   Flores I, Mariano TM and Pestka S.
  TITLE     Human interferon omega (omega) binds to the alpha/beta receptor
  JOURNAL   J Biol Chem 266 (30), 19875-19877 (1991)
   PUBMED   1834641
REFERENCE   9  (bases 1 to 6075)
  AUTHORS   Lutfalla G, Roeckel N, Mogensen KE, Mattei MG and Uze G.
  TITLE     Assignment of the human interferon-alpha receptor gene to chromosome
            21q22.1 by in situ hybridization
  JOURNAL   J Interferon Res 10 (5), 515-517 (1990)
   PUBMED   2148760
REFERENCE   10  (bases 1 to 6075)
  AUTHORS   Uze G, Lutfalla G and Gresser I.
  TITLE     Genetic transfer of a functional human interferon alpha receptor
            into mouse cells: cloning and expression of its cDNA
  JOURNAL   Cell 60 (2), 225-234 (1990)
   PUBMED   2153461
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.34674.1,
            SRR1803614.24038.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in immune response or antiviral
            activity
            MANE Ensembl match          :: ENST00000270139.8/ ENSP00000270139.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG548299.1, BC021825.1,
            J03171.1, BG116121.1, CA309858.1, BX537636.1, AK123813.1,
            BC035603.1, R15745.1 and AP000298.1.
            On Nov 22, 2018 this sequence version replaced NM_000629.2.
            Summary: The protein encoded by this gene is a type I membrane
            protein that forms one of the two chains of a receptor for
            interferons alpha and beta. Binding and activation of the receptor
            stimulates Janus protein kinases, which in turn phosphorylate
            several proteins, including STAT1 and STAT2. The protein belongs to
            the type II cytokine receptor family and functions as an antiviral
            factor. [provided by RefSeq, Jul 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6075
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     gene            1..6075
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="interferon alpha and beta receptor subunit 1"
                     /db_xref="GeneID:3454"
                     /db_xref="HGNC:HGNC:5432"
                     /db_xref="MIM:107450"
     misc_feature    30..32
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="upstream in-frame stop codon"
     CDS             87..1760
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; alpha-type antiviral protein; beta-type antiviral
                     protein; interferon-beta receptor 1; interferon-alpha/beta
                     receptor alpha chain; interferon alpha/beta receptor 1;
                     CRF2-1; IFN-R-1; IFN-alpha/beta receptor 1; type I
                     interferon receptor 1; cytokine receptor class-II member 1;
                     cytokine receptor family 2 member 1; interferon (alpha,
                     beta and omega) receptor 1; IFNalpha/beta receptor 1"
                     /codon_start=1
                     /product="interferon alpha/beta receptor 1 isoform 2
                     precursor"
                     /protein_id="NP_000620.2"
                     /db_xref="CCDS:CCDS13624.1"
                     /db_xref="GeneID:3454"
                     /db_xref="HGNC:HGNC:5432"
                     /db_xref="MIM:107450"
                     /translation="MMVVLLGATTLVLVAVAPWVLSAAAGGKNLKSPQKVEVDIIDDNF
                     ILRWNRSDESVGNVTFSFDYQKTGMDNWIKLSGCQNITSTKCNFSSLKLNVYEEIKLRI
                     RAEKENTSSWYEVDSFTPFRKAQIGPPEVHLEAEDKAIVIHISPGTKDSVMWALDGLSF
                     TYSLVIWKNSSGVEERIENIYSRHKIYKLSPETTYCLKVKAALLTSWKIGVYSPVHCIK
                     TTVENELPPPENIEVSVQNQNYVLKWDYTYANMTFQVQWLHAFLKRNPGNHLYKWKQIP
                     DCENVKTTQCVFPQNVFQKGIYLLRVQASDGNNTSFWSEEIKFDTEIQAFLLPPVFNIR
                     SLSDSFHIYIGAPKQSGNTPVIQDYPLIYEIIFWENTSNAERKIIEKKTDVTVPNLKPL
                     TVYCVKARAHTMDEKLNKSSVFSDAVCEKTKPGNTSKIWLIVGICIALFALPFVIYAAK
                     VFLRCINYVFFPSLKPSSSIDEYFSEQPLKNLLLSTSEEQIEKCFIIENISTIATVEET
                     NQTDEDHKKYSSQTSQDSGNYSNEDESESKTSEELQQDFV"
     sig_peptide     87..167
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
     mat_peptide     168..1757
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /product="interferon alpha/beta receptor 1 isoform 2"
     misc_feature    234..236
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P17181.3); glycosylation site"
     misc_feature    258..260
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P17181.3); glycosylation site"
     misc_feature    327..329
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P17181.3); glycosylation site"
     misc_feature    348..350
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P17181.3); glycosylation site"
     misc_feature    414..416
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P17181.3); glycosylation site"
     misc_feature    600..602
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21854986,
                     ECO:0007744|PDB:3S98; propagated from UniProtKB/Swiss-Prot
                     (P17181.3); glycosylation site"
     misc_feature    846..848
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P17181.3); glycosylation site"
     misc_feature    1023..1025
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P17181.3); glycosylation site"
     misc_feature    1026..1028
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P17181.3); glycosylation site"
     misc_feature    1212..1214
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P17181.3); glycosylation site"
     misc_feature    1332..1334
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P17181.3); glycosylation site"
     misc_feature    1383..1385
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P17181.3); glycosylation site"
     misc_feature    1395..1457
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="propagated from UniProtKB/Swiss-Prot (P17181.3);
                     transmembrane region"
     misc_feature    1482..1484
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="Phosphotyrosine, by TYK2.
                     /evidence=ECO:0000305|PubMed:7526154; propagated from
                     UniProtKB/Swiss-Prot (P17181.3); phosphorylation site"
     misc_feature    1527..1529
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="Phosphotyrosine, by TYK2.
                     /evidence=ECO:0000305|PubMed:7526154; propagated from
                     UniProtKB/Swiss-Prot (P17181.3); phosphorylation site"
     misc_feature    1557..1586
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="propagated from UniProtKB/Swiss-Prot (P17181.3);
                     Region: Important for interaction with TYK2.
                     /evidence=ECO:0000269|PubMed:24704786"
     misc_feature    1569..1571
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P17181.3); phosphorylation site"
     misc_feature    1632..1757
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="propagated from UniProtKB/Swiss-Prot (P17181.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1689..1691
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14532120,
                     ECO:0000269|PubMed:15337770, ECO:0000269|PubMed:18056411,
                     ECO:0000269|PubMed:24075985; propagated from
                     UniProtKB/Swiss-Prot (P17181.3); phosphorylation site"
     regulatory      2233..2238
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="hexamer: ATTAAA"
     polyA_site      2252
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="major polyA site"
     regulatory      5496..5501
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="hexamer: AATAAG"
     polyA_site      5515
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
     regulatory      6008..6013
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="hexamer: AATAAA"
     polyA_site      6034
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
     regulatory      6054..6059
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
                     /note="hexamer: AACAAA"
     polyA_site      6075
                     /gene="IFNAR1"
                     /gene_synonym="AVP; IFN-alpha-REC; IFNAR; IFNBR; IFRC;
                     IMD106"
ORIGIN
        1 ggtgtgactt aggacggggc gatggcggct gagaggagct gcgcgtgcgc gaacatgtaa
       61 ctggtgggat ctgcggcggc tcccagatga tggtcgtcct cctgggcgcg acgaccctag
      121 tgctcgtcgc cgtggcgcca tgggtgttgt ccgcagccgc aggtggaaaa aatctaaaat
      181 ctcctcaaaa agtagaggtc gacatcatag atgacaactt tatcctgagg tggaacagga
      241 gcgatgagtc tgtcgggaat gtgacttttt cattcgatta tcaaaaaact gggatggata
      301 attggataaa attgtctggg tgtcagaata ttactagtac caaatgcaac ttttcttcac
      361 tcaagctgaa tgtttatgaa gaaattaaat tgcgtataag agcagaaaaa gaaaacactt
      421 cttcatggta tgaggttgac tcatttacac catttcgcaa agctcagatt ggtcctccag
      481 aagtacattt agaagctgaa gataaggcaa tagtgataca catctctcct ggaacaaaag
      541 atagtgttat gtgggctttg gatggtttaa gctttacata tagcttagtt atctggaaaa
      601 actcttcagg tgtagaagaa aggattgaaa atatttattc cagacataaa atttataaac
      661 tctcaccaga gactacttat tgtctaaaag ttaaagcagc actacttacg tcatggaaaa
      721 ttggtgtcta tagtccagta cattgtataa agaccacagt tgaaaatgaa ctacctccac
      781 cagaaaatat agaagtcagt gtccaaaatc agaactatgt tcttaaatgg gattatacat
      841 atgcaaacat gacctttcaa gttcagtggc tccacgcctt tttaaaaagg aatcctggaa
      901 accatttgta taaatggaaa caaatacctg actgtgaaaa tgtcaaaact acccagtgtg
      961 tctttcctca aaacgttttc caaaaaggaa tttaccttct ccgcgtacaa gcatctgatg
     1021 gaaataacac atctttttgg tctgaagaga taaagtttga tactgaaata caagctttcc
     1081 tacttcctcc agtctttaac attagatccc ttagtgattc attccatatc tatatcggtg
     1141 ctccaaaaca gtctggaaac acgcctgtga tccaggatta tccactgatt tatgaaatta
     1201 ttttttggga aaacacttca aatgctgaga gaaaaattat cgagaaaaaa actgatgtta
     1261 cagttcctaa tttgaaacca ctgactgtat attgtgtgaa agccagagca cacaccatgg
     1321 atgaaaagct gaataaaagc agtgttttta gtgacgctgt atgtgagaaa acaaaaccag
     1381 gaaatacctc taaaatttgg cttatagttg gaatttgtat tgcattattt gctctcccgt
     1441 ttgtcattta tgctgcgaaa gtcttcttga gatgcatcaa ttatgtcttc tttccatcac
     1501 ttaaaccttc ttccagtata gatgagtatt tctctgaaca gccattgaag aatcttctgc
     1561 tttcaacttc tgaggaacaa atcgaaaaat gtttcataat tgaaaatata agcacaattg
     1621 ctacagtaga agaaactaat caaactgatg aagatcataa aaaatacagt tcccaaacta
     1681 gccaagattc aggaaattat tctaatgaag atgaaagcga aagtaaaaca agtgaagaac
     1741 tacagcagga ctttgtatga ccagaaatga actgtgtcaa gtataaggtt tttcagcagg
     1801 agttacactg ggagcctgag gtcctcacct tcctctcagt aactacagag aggacgtttc
     1861 cctgtttagg gaaagaaaaa acatcttcag atcataggtc ctaaaaatac gggcaagctc
     1921 ttaactattt aaaaatgaaa ttacaggccc gggcacggtg gctcacacct gtaatcccag
     1981 cactttggga ggctgaggca ggcagatcat gaggtcaaga gatcgagacc agcctggcca
     2041 acgtggtgaa accccatctc tactaaaaat acaaaaatta gccgggtgtg gtggcgcgcg
     2101 cctgttgtct tagctactca ggaggctgag gcaggagaat cgcttgaaaa caggaggtgg
     2161 aggttgcagt gagccgagat cacgccactg cactccagcc tggtgacagc gtgagactct
     2221 ttaaaaaaag aaattaaaag agttgagaca aacgtttcct acattctttt ccatgtgtaa
     2281 aatcatgaaa aagcctgtca ccggacttgc attggatgag atgagtcaga ccaaaacagt
     2341 ggccacccgt cttcctcctg tgagcctaag tgcagccgtg ctagctgcgc accgtggcta
     2401 aggatgacgt ctgtgttcct gtccatcact gatgctgctg gctactgcat gtgccacacc
     2461 tgtctgttcg ccattcctaa cattctgttt cattcttcct cgggagatat ttcaaacatt
     2521 tggtcttttc ttttaacact gagggtaggc ccttaggaaa tttatttagg aaagtctgaa
     2581 cacgttatca cttggttttc tggaaagtag cttaccctag aaaacagctg caaatgccag
     2641 aaagatgatc cctaaaaatg ttgagggact tctgttcatt catcccgaga acattggctt
     2701 ccacatcaca gtatctaccc ttacatggtt taggattaaa gccaggcaat cttttactat
     2761 gcattaagac ctctgattca aaacttatta gaacagtagc ttctgctgga atttgcaatc
     2821 actgaagtca tagaaaatag gtaactatct aattagagaa ataattgttg tattttaaga
     2881 tctgagagtg tgtacaagtt ttagtataca tgccatgcca gaagatagtg tatgcaagaa
     2941 gtcttgggac cagaaaatgg caatgatagg agactgacat agaagaagaa tgcttcccta
     3001 ggaaaaaggt cgctggcttt ggtgcaagag gaagaagaat gttccactgg aagcctgagc
     3061 acctaatcag ctctcagtga tcaacccact cttgttatgg gtggtctctg tcactttgaa
     3121 tgccaggctg gcttctcgtc tagcagtatt cagatacccc ttctgctcag cctgcttggc
     3181 gttaaaatac aaatcattga actgaggggg aaaaatgtaa ctaggaagaa aaacccaatt
     3241 taagaaatta cataatgctt tccaaaggca cctacaactt agttttaaat tacttgctac
     3301 tggggattac ccatggatat ccttaatagg caggaagtct gggaattctg gtggcctcta
     3361 gggcagtgtt ctcacagcac cgttccgaca gggaccagtg aaagaaaaga gacaaagtta
     3421 gaacgtgctg gggagcggcc atttctaagg ccagtctggt ttaagtagtc atttctgctg
     3481 aaaaaacaga tgatcctggt ggaagaaaag gttgaaggca gctgccctcg ggagggctgt
     3541 gatgctcggc acatcctgcc tggcacatac acgtgtctgc aggccacacc gtgcatgtcc
     3601 ccagacctgc cgcctggctt ctggagtgct tcaagcagag catggtgggt cattgaggag
     3661 acccaggaat ctcatctgag aacccactct ctgccggaga accccatggt gacacatttt
     3721 catctttctg accagaggct gttttttttt ttttttgaga cagtctcatt ctgttgccca
     3781 ggctggagtg cagtggcttg atctcggctc actgcaacct cgcctcccgg gttcaagcaa
     3841 ttctctgccg cagcctccag agtagctggg ataacaggtg cccaccacca caccccacta
     3901 atttttgtat ttgtattttt agtagagatg gggtttcacc atgttggtca ggctggtctt
     3961 ggactcctga cctcatgctc cacccgcttc ggcctcccaa agttctggga ttacaggtgt
     4021 gagccaccgt gcacggccgg cctgaccttt ggaaaagcct tgtcactttg gacgtttgcg
     4081 tctttgaaga ggcgatggga gcatatcatg actgcctgcc accattgctt ttcagactac
     4141 cacaactcaa tcatgctgtc caggacttct ggccctgtgt tcaccactgg gaaaacgtac
     4201 ttcagactgg atagcctaaa aaggagcaat gcccttgtag gatgtggaga agggaaaata
     4261 cggacattaa cattaaaaga caccagtgaa attgttaggt ctctaggaag ttggagcaca
     4321 aggcttcacg ctttaagacc atctgtggtt ttcagtgaac aagcgctgag caccagcagc
     4381 agaaaacaac aacaaaaaaa cacctcgttt ttaccttgtc ttctagacat gaaaaggcag
     4441 ttgcattcca ctctgcatta tgttctacat gttgctttat cagtatatgc ttagctgtaa
     4501 gtgacaagta ttttttctga acagaagttt acttagaaat accatgcact tgggggtacc
     4561 aattaaccgc ctgaaaatta gcatattgat agttcttaga gagaccagat ataatctaag
     4621 aatttatatg aaagatttgt atcattagag ccagaaataa ttttatatta atatataata
     4681 cagattaaca ttatatataa tatgtacctg tgtcacttct gacatgagcc tgtaaacata
     4741 tattcatata tgtacctgca catgtaccca cctgatgtag gtcttattcc tttagtatgg
     4801 acttaaagta cttattcata taccttgtaa ctaaaaatta gaacagctcc ctagaattgt
     4861 gaacttttaa gagtctgact agaaatttgc aacttataaa aaagttactt ttaaaaatat
     4921 aagttagggc taggcacagt ggctcatgcc tataatctca gcacttttgg gaggccaaga
     4981 caggaggatc acttcaggcc aggagttcaa gatcaaccaa cctgggtaac atggccagac
     5041 cccatctcta tttatatata tatatataaa acttagagtt tttatcttcc cctaaaagag
     5101 gccgtgatat ttgcagcagc ctcaaattgc tcttaagggg tttaggtgtg cagaagcttt
     5161 cctttcccta cccagtaacc atgtgactac taacgtggta tattgattta ttttgtttgc
     5221 tgtctgtctc ccctgcccca ctgctggaac agaggctcca agaaaacagg gaccttatta
     5281 ttcattactg catccccagt aatgaaagta cttagaaaat aattattgaa tgaatgaaat
     5341 ctaaactgtg aacctgaggg tgtttgtggc agtgtttgtt ttactgaatt gtagaaggac
     5401 ataaccgtgt tttcagtgtt tctatggaac aaacttgtac attttatttc acttgtgttt
     5461 tgtcttaaac cctactgctg gaaacaattt tatgtaataa gcaatgggcc caaaagtcta
     5521 ggagtttttt tgtacttagt gaatttgtat gcaacagaga tgctgcagct gatgccttta
     5581 aaaggtattc atcatggaag agctgaggcc tgtgcttggt gttccagagc ccagggttga
     5641 gcatcctgaa ggagccactg cagccgtcac tgtccccaga gcctgtggag atagagcctg
     5701 tttgctgctt tttcttcccg ctcttaagac atggctggag ctcagtcttc attgaatgaa
     5761 gtttgctgtg gtattgcata gccttgcttt cttgaactaa actgtttgcc cttcacaagt
     5821 agttcttctt tcaggattag ttcgttccaa ggaggctctt cagtctcaca gataagtaga
     5881 tctctcctgc tgtctggaca catttcactc ggaaattgaa tacaatttgt attcaggctg
     5941 ggaacctgaa cacacacttg tgtttttaag cttccctttt ttacagtgga caaggacaca
     6001 aataataaat aaatcatccc taatgcccaa gaaatgccct ggtacttagt aataacaaaa
     6061 taccagtaac ttcca
//
LOCUS       NM_000631               1378 bp    mRNA    linear   PRI 06-JUL-2023
DEFINITION  Homo sapiens neutrophil cytosolic factor 4 (NCF4), transcript
            variant 1, mRNA.
ACCESSION   NM_000631
VERSION     NM_000631.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1378)
  AUTHORS   Chen Y, He F, Wang R, Yao M, Li Y, Guo D and He S.
  TITLE     NCF1/2/4 Are Prognostic Biomarkers Related to the Immune
            Infiltration of Kidney Renal Clear Cell Carcinoma
  JOURNAL   Biomed Res Int 2021, 5954036 (2021)
   PUBMED   34708124
  REMARK    GeneRIF: NCF1/2/4 Are Prognostic Biomarkers Related to the Immune
            Infiltration of Kidney Renal Clear Cell Carcinoma. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1378)
  AUTHORS   Zhang TP, Li R, Huang Q, Pan HF, Ye DQ and Li XM.
  TITLE     Association of NCF2, NCF4, and CYBA Gene Polymorphisms with
            Rheumatoid Arthritis in a Chinese Population
  JOURNAL   J Immunol Res 2020, 8528976 (2020)
   PUBMED   33145364
  REMARK    GeneRIF: Association of NCF2, NCF4, and CYBA Gene Polymorphisms with
            Rheumatoid Arthritis in a Chinese Population. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1378)
  AUTHORS   van de Geer A, Nieto-Patlan A, Kuhns DB, Tool AT, Arias AA, Bouaziz
            M, de Boer M, Franco JL, Gazendam RP, van Hamme JL, van Houdt M, van
            Leeuwen K, Verkuijlen PJ, van den Berg TK, Alzate JF, Arango-Franco
            CA, Batura V, Bernasconi AR, Boardman B, Booth C, Burns SO, Cabarcas
            F, Bensussan NC, Charbit-Henrion F, Corveleyn A, Deswarte C, Azcoiti
            ME, Foell D, Gallin JI, Garces C, Guedes M, Hinze CH, Holland SM,
            Hughes SM, Ibanez P, Malech HL, Meyts I, Moncada-Velez M, Moriya K,
            Neves E, Oleastro M, Perez L, Rattina V, Oleaga-Quintas C, Warner N,
            Muise AM, Lopez JS, Trindade E, Vasconcelos J, Vermeire S,
            Wittkowski H, Worth A, Abel L, Dinauer MC, Arkwright PD, Roos D,
            Casanova JL, Kuijpers TW and Bustamante J.
  TITLE     Inherited p40phox deficiency differs from classic chronic
            granulomatous disease
  JOURNAL   J Clin Invest 128 (9), 3957-3975 (2018)
   PUBMED   29969437
  REMARK    GeneRIF: We report on 24 p40phox-deficient patients from 12
            additional families in 8 countries. These patients display 8
            different in-frame or out-of-frame mutations of NCF4 that are
            homozygous in 11 of the families and compound heterozygous in
            another.
REFERENCE   4  (bases 1 to 1378)
  AUTHORS   Saini P and Courtneidge SA.
  TITLE     Tks adaptor proteins at a glance
  JOURNAL   J Cell Sci 131 (1) (2018)
   PUBMED   29311151
  REMARK    GeneRIF: Tyrosine kinase substrate (Tks) proteins, analogous to the
            related proteins p47(phox), p40(phox) and NoxO1, also facilitate
            local generation of reactive oxygen species (ROS), which aid in
            signaling at invadopodia and/or podosomes to promote their activity.
            As their name suggests, Tks adaptor proteins are substrates for
            tyrosine kinases, especially Src. [review] Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1378)
  AUTHORS   Song ZM, Bouchab L, Hudik E, Le Bars R, Nusse O and Dupre-Crochet S.
  TITLE     Phosphoinositol 3-phosphate acts as a timer for reactive oxygen
            species production in the phagosome
  JOURNAL   J Leukoc Biol 101 (5), 1155-1168 (2017)
   PUBMED   28096301
  REMARK    GeneRIF: Phosphoinositol 3-phosphate regulates reactive oxygen
            species production by maintaining p40phox and p67phox at the
            phagosomal membrane.
REFERENCE   6  (bases 1 to 1378)
  AUTHORS   Leto TL, Adams AG and de Mendez I.
  TITLE     Assembly of the phagocyte NADPH oxidase: binding of Src homology 3
            domains to proline-rich targets
  JOURNAL   Proc Natl Acad Sci U S A 91 (22), 10650-10654 (1994)
   PUBMED   7938008
REFERENCE   7  (bases 1 to 1378)
  AUTHORS   Tsunawaki S, Mizunari H, Nagata M, Tatsuzawa O and Kuratsuji T.
  TITLE     A novel cytosolic component, p40phox, of respiratory burst oxidase
            associates with p67phox and is absent in patients with chronic
            granulomatous disease who lack p67phox
  JOURNAL   Biochem Biophys Res Commun 199 (3), 1378-1387 (1994)
   PUBMED   8147882
REFERENCE   8  (bases 1 to 1378)
  AUTHORS   Wientjes FB, Hsuan JJ, Totty NF and Segal AW.
  TITLE     p40phox, a third cytosolic component of the activation complex of
            the NADPH oxidase to contain src homology 3 domains
  JOURNAL   Biochem J 296 (Pt 3) (Pt 3), 557-561 (1993)
   PUBMED   8280052
REFERENCE   9  (bases 1 to 1378)
  AUTHORS   Leiding,J.W. and Holland,S.M.
  TITLE     Chronic Granulomatous Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   22876374
REFERENCE   10  (bases 1 to 1378)
  AUTHORS   Jones,J.H.
  TITLE     The essence of operating room nursing. Paramedical personnel
  JOURNAL   Australas Nurses J 7 (1), 44-45 (1977)
   PUBMED   243433
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.936687.1,
            SRR3476690.958705.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000248899.11/ ENSP00000248899.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC002798.1, BX355636.2 and
            BU076892.1.
            On Nov 22, 2018 this sequence version replaced NM_000631.4.
            Summary: The protein encoded by this gene is a cytosolic regulatory
            component of the superoxide-producing phagocyte NADPH-oxidase, a
            multicomponent enzyme system important for host defense. This
            protein is preferentially expressed in cells of myeloid lineage. It
            interacts primarily with neutrophil cytosolic factor 2
            (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor
            1 (NCF1/p47-phox), which further interacts with the small G protein
            RAC1 and translocates to the membrane upon cell stimulation. This
            complex then activates flavocytochrome b, the membrane-integrated
            catalytic core of the enzyme system. The PX domain of this protein
            can bind phospholipid products of the PI(3) kinase, which suggests
            its role in PI(3) kinase-mediated signaling events. The
            phosphorylation of this protein was found to negatively regulate
            the enzyme activity. Alternatively spliced transcript variants
            encoding distinct isoforms have been observed. [provided by RefSeq,
            Jul 2008].
            Transcript Variant: This variant (1) lacks an internal coding
            segment compared to variant 2, which leads to a translation
            frameshift. The resulting isoform (1) has a distinct and shorter
            C-terminus, as compared to isoform 2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1378
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.3"
     gene            1..1378
                     /gene="NCF4"
                     /gene_synonym="CGD3; NCF; P40PHOX; SH3PXD4"
                     /note="neutrophil cytosolic factor 4"
                     /db_xref="GeneID:4689"
                     /db_xref="HGNC:HGNC:7662"
                     /db_xref="MIM:601488"
     misc_feature    104..106
                     /gene="NCF4"
                     /gene_synonym="CGD3; NCF; P40PHOX; SH3PXD4"
                     /note="upstream in-frame stop codon"
     CDS             167..1186
                     /gene="NCF4"
                     /gene_synonym="CGD3; NCF; P40PHOX; SH3PXD4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     neutrophil NADPH oxidase factor 4; neutrophil cytosol
                     factor 4; NCF-4; p40-phox; SH3 and PX domain-containing
                     protein 4; neutrophil cytosolic factor 4, 40kDa"
                     /codon_start=1
                     /product="neutrophil cytosol factor 4 isoform 1"
                     /protein_id="NP_000622.2"
                     /db_xref="CCDS:CCDS13934.1"
                     /db_xref="GeneID:4689"
                     /db_xref="HGNC:HGNC:7662"
                     /db_xref="MIM:601488"
                     /translation="MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEV
                     KTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSSALACTLPTLPAKVYVGVKQEIAEM
                     RIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSVSPQ
                     GNSVDRMAAPRAEALFDFTGNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLS
                     FVKILKDFPEEDDPTNWLRCYYYEDTISTIKDIAVEEDLSSTPLLKDLLELTRREFQRE
                     DIALNYRDAEGDLVRLLSDEDVALMVRQARGLPSQKRLFPWKLHITQKDNYRVYNTMP"
     misc_feature    626..628
                     /gene="NCF4"
                     /gene_synonym="CGD3; NCF; P40PHOX; SH3PXD4"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:9804763; propagated from
                     UniProtKB/Swiss-Prot (Q15080.2); phosphorylation site"
     misc_feature    1109..1111
                     /gene="NCF4"
                     /gene_synonym="CGD3; NCF; P40PHOX; SH3PXD4"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:9804763;
                     propagated from UniProtKB/Swiss-Prot (Q15080.2);
                     phosphorylation site"
     regulatory      1354..1359
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NCF4"
                     /gene_synonym="CGD3; NCF; P40PHOX; SH3PXD4"
                     /note="hexamer: AATAAA"
     polyA_site      1378
                     /gene="NCF4"
                     /gene_synonym="CGD3; NCF; P40PHOX; SH3PXD4"
                     /note="major polyA site"
ORIGIN
        1 agactggaga gaagcaggcc tgagcctccc caaaggcagc tcctggggac tcccaggacc
       61 acaggctgag acgagacgca gggtggctgg aggaagtgag aggtgaactc agcctgggac
      121 tggctgggcg agactctcca cctgctccct gggaccatcg cccaccatgg ctgtggccca
      181 gcagctgcgg gccgagagtg actttgaaca gcttccggat gatgttgcca tctcggccaa
      241 cattgctgac atcgaggaga agagaggctt caccagccac tttgttttcg tcatcgaggt
      301 gaagacaaaa ggaggatcca agtacctcat ctaccgccgc taccgccagt tccatgcttt
      361 gcagagcaag ctggaggagc gcttcgggcc agacagcaag agcagtgccc tggcctgtac
      421 cctgcccaca ctcccagcca aagtctacgt gggtgtgaaa caggagatcg ccgagatgcg
      481 gatacctgcc ctcaacgcct acatgaagag cctgctcagc ctgccggtct gggtgctgat
      541 ggatgaggac gtccggatct tcttttacca gtcgccctat gactcagagc aggtgcccca
      601 ggcactccgc cggctccgcc cgcgcacccg gaaagtcaag agcgtgtccc cacagggcaa
      661 cagcgttgac cgcatggcag ctccgagagc agaggctcta tttgacttca ctggaaacag
      721 caaactggag ctgaatttca aagctggaga tgtgatcttc ctcctcagtc ggatcaacaa
      781 agactggctg gagggcactg tccggggagc cacgggcatc ttccctctct ccttcgtgaa
      841 gatcctcaaa gacttccctg aggaggacga ccccaccaac tggctgcgtt gctactacta
      901 cgaagacacc atcagcacca tcaaggacat cgcggtggag gaagatctca gcagcactcc
      961 cctattgaaa gacctgctgg agctcacaag gcgggagttc cagagagagg acatagctct
     1021 gaattaccgg gacgctgagg gggatctggt tcggctgctg tcggatgagg acgtagcgct
     1081 catggtgcgg caggctcgtg gcctcccctc ccagaagcgc ctcttcccct ggaagctgca
     1141 catcacgcag aaggacaact acagggtcta caacacgatg ccatgagctg acggtgtccc
     1201 tggagcagtg aggggacacc agcaaaaacc ttcagctctc agaggagatt gggaccagga
     1261 aaacctggga ggatgggcag acttcctgtc tttgaggcta atggacccgt ggggcttgta
     1321 atctgtctct ttctactatt tacatctgat ttaaataaac cattccatct gaaagggg
//
LOCUS       NM_000632               4719 bp    mRNA    linear   PRI 26-JUN-2023
DEFINITION  Homo sapiens integrin subunit alpha M (ITGAM), transcript variant 2,
            mRNA.
ACCESSION   NM_000632
VERSION     NM_000632.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4719)
  AUTHORS   Lenza MP, Egia-Mendikute L, Antonana-Vildosola A, Soares CO, Coelho
            H, Corzana F, Bosch A, Manisha P, Quintana JI, Oyenarte I, Unione L,
            Moure MJ, Azkargorta M, Atxabal U, Sobczak K, Elortza F, Sutherland
            JD, Barrio R, Marcelo F, Jimenez-Barbero J, Palazon A and
            Ereno-Orbea J.
  TITLE     Structural insights into Siglec-15 reveal glycosylation dependency
            for its interaction with T cells through integrin CD11b
  JOURNAL   Nat Commun 14 (1), 3496 (2023)
   PUBMED   37311743
  REMARK    GeneRIF: Structural insights into Siglec-15 reveal glycosylation
            dependency for its interaction with T cells through integrin CD11b.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4719)
  AUTHORS   Liu X, Hogg GD, Zuo C, Borcherding NC, Baer JM, Lander VE, Kang LI,
            Knolhoff BL, Ahmad F, Osterhout RE, Galkin AV, Bruey JM, Carter LL,
            Mpoy C, Vij KR, Fields RC, Schwarz JK, Park H, Gupta V and DeNardo
            DG.
  TITLE     Context-dependent activation of STING-interferon signaling by CD11b
            agonists enhances anti-tumor immunity
  JOURNAL   Cancer Cell 41 (6), 1073-1090 (2023)
   PUBMED   37236195
  REMARK    GeneRIF: Context-dependent activation of STING-interferon signaling
            by CD11b agonists enhances anti-tumor immunity.
REFERENCE   3  (bases 1 to 4719)
  AUTHORS   Halfon M, Zhang L, Ehirchiou D, Pandian VD, Dahdal S, Huynh-Do U,
            Pasch A, Ribi C and Busso N.
  TITLE     ITGAM rs1143679 Variant in Systemic Lupus Erythematosus Is
            Associated with Increased Serum Calcification Propensity
  JOURNAL   Genes (Basel) 14 (5), 1105 (2023)
   PUBMED   37239465
  REMARK    GeneRIF: ITGAM rs1143679 Variant in Systemic Lupus Erythematosus Is
            Associated with Increased Serum Calcification Propensity.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4719)
  AUTHORS   Podolnikova NP, Key S, Wang X and Ugarova TP.
  TITLE     The CIS association of CD47 with integrin Mac-1 regulates macrophage
            responses by stabilizing the extended integrin conformation
  JOURNAL   J Biol Chem 299 (4), 103024 (2023)
   PUBMED   36796515
  REMARK    GeneRIF: The CIS association of CD47 with integrin Mac-1 regulates
            macrophage responses by stabilizing the extended integrin
            conformation.
REFERENCE   5  (bases 1 to 4719)
  AUTHORS   Day CJ, Hardison RL, Spillings BL, Poole J, Jurcisek JA, Mak J,
            Jennings MP and Edwards JL.
  TITLE     Complement Receptor 3 Mediates HIV-1 Transcytosis across an Intact
            Cervical Epithelial Cell Barrier: New Insight into HIV Transmission
            in Women
  JOURNAL   mBio 13 (1), e0217721 (2022)
   PUBMED   35012346
  REMARK    GeneRIF: Complement Receptor 3 Mediates HIV-1 Transcytosis across an
            Intact Cervical Epithelial Cell Barrier: New Insight into HIV
            Transmission in Women.
REFERENCE   6  (bases 1 to 4719)
  AUTHORS   Pahl HL, Rosmarin AG and Tenen DG.
  TITLE     Characterization of the myeloid-specific CD11b promoter
  JOURNAL   Blood 79 (4), 865-870 (1992)
   PUBMED   1346576
REFERENCE   7  (bases 1 to 4719)
  AUTHORS   Shelley CS and Arnaout MA.
  TITLE     The promoter of the CD11b gene directs myeloid-specific and
            developmentally regulated expression
  JOURNAL   Proc Natl Acad Sci U S A 88 (23), 10525-10529 (1991)
   PUBMED   1683702
REFERENCE   8  (bases 1 to 4719)
  AUTHORS   Hickstein DD, Hickey MJ, Ozols J, Baker DM, Back AL and Roth GJ.
  TITLE     cDNA sequence for the alpha M subunit of the human neutrophil
            adherence receptor indicates homology to integrin alpha subunits
  JOURNAL   Proc Natl Acad Sci U S A 86 (1), 257-261 (1989)
   PUBMED   2563162
REFERENCE   9  (bases 1 to 4719)
  AUTHORS   Corbi AL, Kishimoto TK, Miller LJ and Springer TA.
  TITLE     The human leukocyte adhesion glycoprotein Mac-1 (complement receptor
            type 3, CD11b) alpha subunit. Cloning, primary structure, and
            relation to the integrins, von Willebrand factor and factor B
  JOURNAL   J Biol Chem 263 (25), 12403-12411 (1988)
   PUBMED   2457584
REFERENCE   10  (bases 1 to 4719)
  AUTHORS   Arnaout MA, Gupta SK, Pierce MW and Tenen DG.
  TITLE     Amino acid sequence of the alpha subunit of human leukocyte adhesion
            receptor Mo1 (complement receptor type 3)
  JOURNAL   J Cell Biol 106 (6), 2153-2158 (1988)
   PUBMED   2454931
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.90372.1, BC096346.3
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000544665.9/ ENSP00000441691.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK057856.1, BC096348.3,
            AA436312.1 and AC093520.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 12, 2018 this sequence version replaced NM_000632.3.
            Summary: This gene encodes the integrin alpha M chain. Integrins
            are heterodimeric integral membrane proteins composed of an alpha
            chain and a beta chain. This I-domain containing alpha integrin
            combines with the beta 2 chain (ITGB2) to form a leukocyte-specific
            integrin referred to as macrophage receptor 1 ('Mac-1'), or
            inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2
            integrin is important in the adherence of neutrophils and monocytes
            to stimulated endothelium, and also in the phagocytosis of
            complement coated particles. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Mar 2009].
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the central coding region, compared to variant 1.
            The resulting isoform (2) lacks one internal amino acid, compared
            to isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4719
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..4719
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="integrin subunit alpha M"
                     /db_xref="GeneID:3684"
                     /db_xref="HGNC:HGNC:6149"
                     /db_xref="MIM:120980"
     CDS             91..3549
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; antigen CD11b (p170); macrophage antigen alpha
                     polypeptide; neutrophil adherence receptor alpha-M subunit;
                     integrin alpha-M; CR-3 alpha chain; leukocyte adhesion
                     receptor MO1; CD11 antigen-like family member B; cell
                     surface glycoprotein MAC-1 subunit alpha; integrin, alpha M
                     (complement component 3 receptor 3 subunit); macrophage-1
                     antigen alpha subunit"
                     /codon_start=1
                     /product="integrin alpha-M isoform 2 precursor"
                     /protein_id="NP_000623.2"
                     /db_xref="CCDS:CCDS45470.1"
                     /db_xref="GeneID:3684"
                     /db_xref="HGNC:HGNC:6149"
                     /db_xref="MIM:120980"
                     /translation="MALRVLLLTALTLCHGFNLDTENAMTFQENARGFGQSVVQLQGSR
                     VVVGAPQEIVAANQRGSLYQCDYSTGSCEPIRLQVPVEAVNMSLGLSLAATTSPPQLLA
                     CGPTVHQTCSENTYVKGLCFLFGSNLRQQPQKFPEALRGCPQEDSDIAFLIDGSGSIIP
                     HDFRRMKEFVSTVMEQLKKSKTLFSLMQYSEEFRIHFTFKEFQNNPNPRSLVKPITQLL
                     GRTHTATGIRKVVRELFNITNGARKNAFKILVVITDGEKFGDPLGYEDVIPEADREGVI
                     RYVIGVGDAFRSEKSRQELNTIASKPPRDHVFQVNNFEALKTIQNQLREKIFAIEGTQT
                     GSSSSFEHEMSQEGFSAAITSNGPLLSTVGSYDWAGGVFLYTSKEKSTFINMTRVDSDM
                     NDAYLGYAAAIILRNRVQSLVLGAPRYQHIGLVAMFRQNTGMWESNANVKGTQIGAYFG
                     ASLCSVDVDSNGSTDLVLIGAPHYYEQTRGGQVSVCPLPRGRARWQCDAVLYGEQGQPW
                     GRFGAALTVLGDVNGDKLTDVAIGAPGEEDNRGAVYLFHGTSGSGISPSHSQRIAGSKL
                     SPRLQYFGQSLSGGQDLTMDGLVDLTVGAQGHVLLLRSQPVLRVKAIMEFNPREVARNV
                     FECNDQVVKGKEAGEVRVCLHVQKSTRDRLREGQIQSVVTYDLALDSGRPHSRAVFNET
                     KNSTRRQTQVLGLTQTCETLKLQLPNCIEDPVSPIVLRLNFSLVGTPLSAFGNLRPVLA
                     EDAQRLFTALFPFEKNCGNDNICQDDLSITFSFMSLDCLVVGGPREFNVTVTVRNDGED
                     SYRTQVTFFFPLDLSYRKVSTLQNQRSQRSWRLACESASSTEVSGALKSTSCSINHPIF
                     PENSEVTFNITFDVDSKASLGNKLLLKANVTSENNMPRTNKTEFQLELPVKYAVYMVVT
                     SHGVSTKYLNFTASENTSRVMQHQYQVSNLGQRSLPISLVFLVPVRLNQTVIWDRPQVT
                     FSENLSSTCHTKERLPSHSDFLAELRKAPVVNCSIAVCQRIQCDIPFFGIQEEFNATLK
                     GNLSFDWYIKTSHNHLLIVSTAEILFNDSVFTLLPGQGAFVRSQTETKVEPFEVPNPLP
                     LIVGSSVGGLLLLALITAALYKLGFFKRQYKDMMSEGGPPGAEPQ"
     sig_peptide     91..138
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     139..3546
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /product="Integrin alpha-M. /id=PRO_0000016289"
                     /note="propagated from UniProtKB/Swiss-Prot (P11215.2)"
     misc_feature    142..315
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P11215.2);
                     Region: FG-GAP 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    316..495
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P11215.2);
                     Region: FG-GAP 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    346..348
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11215.2); glycosylation site"
     misc_feature    808..810
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11215.2); glycosylation site"
     misc_feature    1105..1260
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P11215.2);
                     Region: FG-GAP 3.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1261..1416
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P11215.2);
                     Region: FG-GAP 4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1261..1263
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11215.2); glycosylation site"
     misc_feature    1417..1599
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P11215.2);
                     Region: FG-GAP 5.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1495..1497
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11215.2); glycosylation site"
     misc_feature    1606..1782
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P11215.2);
                     Region: FG-GAP 6.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1795..1977
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P11215.2);
                     Region: FG-GAP 7.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    2164..2166
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11215.2); glycosylation site"
     misc_feature    2176..2178
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11215.2); glycosylation site"
     misc_feature    2290..2292
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11215.2); glycosylation site"
     misc_feature    2491..2493
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11215.2); glycosylation site"
     misc_feature    2728..2730
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11215.2); glycosylation site"
     misc_feature    2788..2790
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P11215.2); glycosylation site"
     misc_feature    2821..2823
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11215.2); glycosylation site"
     misc_feature    2908..2910
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P11215.2); glycosylation site"
     misc_feature    2926..2928
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P11215.2); glycosylation site"
     misc_feature    3022..3024
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11215.2); glycosylation site"
     misc_feature    3067..3069
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11215.2); glycosylation site"
     misc_feature    3151..3153
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11215.2); glycosylation site"
     misc_feature    3220..3222
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11215.2); glycosylation site"
     misc_feature    3238..3240
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11215.2); glycosylation site"
     misc_feature    3313..3315
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11215.2); glycosylation site"
     misc_feature    3403..3474
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P11215.2);
                     transmembrane region"
     misc_feature    3481..3495
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P11215.2);
                     Region: GFFKR motif"
     regulatory      4692..4697
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="hexamer: AATAAA"
     regulatory      4701..4706
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="hexamer: AATATA"
     polyA_site      4711
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
                     /note="major polyA site"
     polyA_site      4719
                     /gene="ITGAM"
                     /gene_synonym="CD11B; CR3A; MAC-1; MAC1A; MO1A; SLEB6"
ORIGIN
        1 ccttctttgc tttggtggct tccttgtggt tcctcagtgg tgcctgcaac ccctggttca
       61 cctccttcca ggttctggct ccttccagcc atggctctca gagtccttct gttaacagcc
      121 ttgaccttat gtcatgggtt caacttggac actgaaaacg caatgacctt ccaagagaac
      181 gcaaggggct tcgggcagag cgtggtccag cttcagggat ccagggtggt ggttggagcc
      241 ccccaggaga tagtggctgc caaccaaagg ggcagcctct accagtgcga ctacagcaca
      301 ggctcatgcg agcccatccg cctgcaggtc cccgtggagg ccgtgaacat gtccctgggc
      361 ctgtccctgg cagccaccac cagcccccct cagctgctgg cctgtggtcc caccgtgcac
      421 cagacttgca gtgagaacac gtatgtgaaa gggctctgct tcctgtttgg atccaaccta
      481 cggcagcagc cccagaagtt cccagaggcc ctccgagggt gtcctcaaga ggatagtgac
      541 attgccttct tgattgatgg ctctggtagc atcatcccac atgactttcg gcggatgaag
      601 gagtttgtct caactgtgat ggagcaatta aaaaagtcca aaaccttgtt ctctttgatg
      661 cagtactctg aagaattccg gattcacttt accttcaaag agttccagaa caaccctaac
      721 ccaagatcac tggtgaagcc aataacgcag ctgcttgggc ggacacacac ggccacgggc
      781 atccgcaaag tggtacgaga gctgtttaac atcaccaacg gagcccgaaa gaatgccttt
      841 aagatcctag ttgtcatcac ggatggagaa aagtttggcg atcccttggg atatgaggat
      901 gtcatccctg aggcagacag agagggagtc attcgctacg tcattggggt gggagatgcc
      961 ttccgcagtg agaaatcccg ccaagagctt aataccatcg catccaagcc gcctcgtgat
     1021 cacgtgttcc aggtgaataa ctttgaggct ctgaagacca ttcagaacca gcttcgggag
     1081 aagatctttg cgatcgaggg tactcagaca ggaagtagca gctcctttga gcatgagatg
     1141 tctcaggaag gcttcagcgc tgccatcacc tctaatggcc ccttgctgag cactgtgggg
     1201 agctatgact gggctggtgg agtctttcta tatacatcaa aggagaaaag caccttcatc
     1261 aacatgacca gagtggattc agacatgaat gatgcttact tgggttatgc tgccgccatc
     1321 atcttacgga accgggtgca aagcctggtt ctgggggcac ctcgatatca gcacatcggc
     1381 ctggtagcga tgttcaggca gaacactggc atgtgggagt ccaacgctaa tgtcaagggc
     1441 acccagatcg gcgcctactt cggggcctcc ctctgctccg tggacgtgga cagcaacggc
     1501 agcaccgacc tggtcctcat cggggccccc cattactacg agcagacccg agggggccag
     1561 gtgtccgtgt gccccttgcc cagggggagg gctcggtggc agtgtgatgc tgttctctac
     1621 ggggagcagg gccaaccctg gggccgcttt ggggcagccc taacagtgct gggggacgta
     1681 aatggggaca agctgacgga cgtggccatt ggggccccag gagaggagga caaccggggt
     1741 gctgtttacc tgtttcacgg aacctcagga tctggcatca gcccctccca tagccagcgg
     1801 atagcaggct ccaagctctc tcccaggctc cagtattttg gtcagtcact gagtgggggc
     1861 caggacctca caatggatgg actggtagac ctgactgtag gagcccaggg gcacgtgctg
     1921 ctgctcaggt cccagccagt actgagagtc aaggcaatca tggagttcaa tcccagggaa
     1981 gtggcaagga atgtatttga gtgtaatgat caggtggtga aaggcaagga agccggagag
     2041 gtcagagtct gcctccatgt ccagaagagc acacgggatc ggctaagaga aggacagatc
     2101 cagagtgttg tgacttatga cctggctctg gactccggcc gcccacattc ccgcgccgtc
     2161 ttcaatgaga caaagaacag cacacgcaga cagacacagg tcttggggct gacccagact
     2221 tgtgagaccc tgaaactaca gttgccgaat tgcatcgagg acccagtgag ccccattgtg
     2281 ctgcgcctga acttctctct ggtgggaacg ccattgtctg ctttcgggaa cctccggcca
     2341 gtgctggcgg aggatgctca gagactcttc acagccttgt ttccctttga gaagaattgt
     2401 ggcaatgaca acatctgcca ggatgacctc agcatcacct tcagtttcat gagcctggac
     2461 tgcctcgtgg tgggtgggcc ccgggagttc aacgtgacag tgactgtgag aaatgatggt
     2521 gaggactcct acaggacaca ggtcaccttc ttcttcccgc ttgacctgtc ctaccggaag
     2581 gtgtccacgc tccagaacca gcgctcacag cgatcctggc gcctggcctg tgagtctgcc
     2641 tcctccaccg aagtgtctgg ggccttgaag agcaccagct gcagcataaa ccaccccatc
     2701 ttcccggaaa actcagaggt cacctttaat atcacgtttg atgtagactc taaggcttcc
     2761 cttggaaaca aactgctcct caaggccaat gtgaccagtg agaacaacat gcccagaacc
     2821 aacaaaaccg aattccaact ggagctgccg gtgaaatatg ctgtctacat ggtggtcacc
     2881 agccatgggg tctccactaa atatctcaac ttcacggcct cagagaatac cagtcgggtc
     2941 atgcagcatc aatatcaggt cagcaacctg gggcagagga gcctccccat cagcctggtg
     3001 ttcttggtgc ccgtccggct gaaccagact gtcatatggg accgccccca ggtcaccttc
     3061 tccgagaacc tctcgagtac gtgccacacc aaggagcgct tgccctctca ctccgacttt
     3121 ctggctgagc ttcggaaggc ccccgtggtg aactgctcca tcgctgtctg ccagagaatc
     3181 cagtgtgaca tcccgttctt tggcatccag gaagaattca atgctaccct caaaggcaac
     3241 ctctcgtttg actggtacat caagacctcg cataaccacc tcctgatcgt gagcacagct
     3301 gagatcttgt ttaacgattc cgtgttcacc ctgctgccgg gacagggggc gtttgtgagg
     3361 tcccagacgg agaccaaagt ggagccgttc gaggtcccca accccctgcc gctcatcgtg
     3421 ggcagctctg tcgggggact gctgctcctg gccctcatca ccgccgcgct gtacaagctc
     3481 ggcttcttca agcggcaata caaggacatg atgagtgaag ggggtccccc gggggccgaa
     3541 ccccagtagc ggctccttcc cgacagagct gcctctcggt ggccagcagg actctgccca
     3601 gaccacacgt agcccccagg ctgctggaca cgtcggacag cgaagtatcc ccgacaggac
     3661 gggcttgggc ttccatttgt gtgtgtgcaa gtgtgtatgt gcgtgtgtgc aagtgtctgt
     3721 gtgcaagtgt gtgcacatgt gtgcgtgtgc gtgcatgtgc acttgcacgc ccatgtgtga
     3781 gtgtgtgcaa gtatgtgagt gtgtccaagt gtgtgtgcgt gtgtccatgt gtgtgcaagt
     3841 gtgtgcatgt gtgcgagtgt gtgcatgtgt gtgctcaggg gcgtgtggct cacgtgtgtg
     3901 actcagatgt ctctggcgtg tgggtaggtg acggcagcgt agcctctccg gcagaaggga
     3961 actgcctggg ctcccttgtg cgtgggtgaa gccgctgctg ggttttcctc cgggagaggg
     4021 gacggtcaat cctgtgggtg aagacagagg gaaacacagc agcttctctc cactgaaaga
     4081 agtgggactt cccgtcgcct gcgagcctgc ggcctgctgg agcctgcgca gcttggatgg
     4141 agactccatg agaagccgtg ggtggaacca ggaacctcct ccacaccagc gctgatgccc
     4201 aataaagatg cccactgagg aatgatgaag cttcctttct ggattcattt attatttcaa
     4261 tgtgacttta attttttgga tggataagct tgtctatggt acaaaaatca caaggcattc
     4321 aagtgtacag tgaaaagtct ccctttccag atattcaagt cacctcctta aaggtagtca
     4381 agattgtgtt ttgaggtttc cttcagacag attccaggcg atgtgcaagt gtatgcacgt
     4441 gtgcacacac accacacata cacacacaca agctttttta cacaaatggt agcatacttt
     4501 atattggtct gtatcttgct ttttttcacc aatatttctc agacatcggt tcatattaag
     4561 acataaatta ctttttcatt cttttatacc gctgcatagt attccattgt gtgagtgtac
     4621 cataatgtat ttaaccagtc ttcttttgat atactatttt cattctcttg ttattgcatc
     4681 aatgctgagt taataaatca aatatatgtc atttttgca
//
LOCUS       NM_000633               6881 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens BCL2 apoptosis regulator (BCL2), transcript variant
            alpha, mRNA.
ACCESSION   NM_000633
VERSION     NM_000633.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6881)
  AUTHORS   Kuang L, Lu A and Yao S.
  TITLE     CircTLK1 alleviates oxygen-glucose deprivation/reperfusion induced
            apoptosis in HK-2 cells through miR-136-5p/Bcl2 signal axis
  JOURNAL   Ren Fail 45 (1), 2236219 (2023)
   PUBMED   37462140
  REMARK    GeneRIF: CircTLK1 alleviates oxygen-glucose deprivation/reperfusion
            induced apoptosis in HK-2 cells through miR-136-5p/Bcl2 signal axis.
REFERENCE   2  (bases 1 to 6881)
  AUTHORS   Shah K, Nasimian A, Ahmed M, Al Ashiri L, Denison L, Sime W, Bendak
            K, Kolosenko I, Siino V, Levander F, Palm-Apergi C, Massoumi R, Lock
            RB and Kazi JU.
  TITLE     PLK1 as a cooperating partner for BCL2-mediated antiapoptotic
            program in leukemia
  JOURNAL   Blood Cancer J 13 (1), 139 (2023)
   PUBMED   37679323
  REMARK    GeneRIF: PLK1 as a cooperating partner for BCL2-mediated
            antiapoptotic program in leukemia. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6881)
  AUTHORS   Chiu CH, Ramesh S, Liao PH, Kuo WW, Chen MC, Kuo CH, Li CC, Wang TF,
            Lin YM, Lin YJ and Huang CY.
  TITLE     Phosphorylation of Bcl-2 by JNK confers gemcitabine resistance in
            lung cancer cells by reducing autophagy-mediated cell death
  JOURNAL   Environ Toxicol 38 (9), 2121-2131 (2023)
   PUBMED   37219008
  REMARK    GeneRIF: Phosphorylation of Bcl-2 by JNK confers gemcitabine
            resistance in lung cancer cells by reducing autophagy-mediated cell
            death.
REFERENCE   4  (bases 1 to 6881)
  AUTHORS   Forconi F, Ashton-Key M and Meakin N.
  TITLE     BCL2 Inhibition in Refractory Hairy-Cell Leukemia
  JOURNAL   N Engl J Med 388 (21), 2010-2012 (2023)
   PUBMED   37224205
  REMARK    GeneRIF: BCL2 Inhibition in Refractory Hairy-Cell Leukemia.
REFERENCE   5  (bases 1 to 6881)
  AUTHORS   Salomons GS, Buitenhuis CK, Martinez Munoz C, Verwijs-Jassen M,
            Behrendt H, Zsiros J and Smets LA.
  TITLE     Mutational analysis of Bax and Bcl-2 in childhood acute
            lymphoblastic leukaemia
  JOURNAL   Int J Cancer 79 (3), 273-277 (1998)
   PUBMED   9645350
REFERENCE   6  (bases 1 to 6881)
  AUTHORS   Harigai M, Miyashita T, Hanada M and Reed JC.
  TITLE     A cis-acting element in the BCL-2 gene controls expression through
            translational mechanisms
  JOURNAL   Oncogene 12 (6), 1369-1374 (1996)
   PUBMED   8649841
REFERENCE   7  (bases 1 to 6881)
  AUTHORS   Hockenbery DM.
  TITLE     The bcl-2 oncogene and apoptosis
  JOURNAL   Semin Immunol 4 (6), 413-420 (1992)
   PUBMED   1286168
  REMARK    Review article
REFERENCE   8  (bases 1 to 6881)
  AUTHORS   Borzillo GV, Endo K and Tsujimoto Y.
  TITLE     Bcl-2 confers growth and survival advantage to interleukin
            7-dependent early pre-B cells which become factor independent by a
            multistep process in culture
  JOURNAL   Oncogene 7 (5), 869-876 (1992)
   PUBMED   1373874
REFERENCE   9  (bases 1 to 6881)
  AUTHORS   Tanaka S, Louie DC, Kant JA and Reed JC.
  TITLE     Frequent incidence of somatic mutations in translocated BCL2
            oncogenes of non-Hodgkin's lymphomas
  JOURNAL   Blood 79 (1), 229-237 (1992)
   PUBMED   1339299
REFERENCE   10  (bases 1 to 6881)
  AUTHORS   Dublanchet,A. and Durieux,R.
  TITLE     [Isolation of a strain of Streptococcus pneumoniae multiresistant to
            antibiotics]
  JOURNAL   Nouv Presse Med 8 (11), 872 (1979)
   PUBMED   36599
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC027258.1, SRR14038191.1064725.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000333681.5/ ENSP00000329623.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            regulatory uORF                    :: PMID: 9645350
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021803.8 and AC022726.13.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 14, 2020 this sequence version replaced NM_000633.2.
            Summary: This gene encodes an integral outer mitochondrial membrane
            protein that blocks the apoptotic death of some cells such as
            lymphocytes. Constitutive expression of BCL2, such as in the case
            of translocation of BCL2 to Ig heavy chain locus, is thought to be
            the cause of follicular lymphoma. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Feb 2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6881
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.33"
     gene            1..6881
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="BCL2 apoptosis regulator"
                     /db_xref="GeneID:596"
                     /db_xref="HGNC:HGNC:990"
                     /db_xref="MIM:151430"
     regulatory      764..799
                     /regulatory_class="uORF"
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:9645350]"
                     /note="this uORF is predicted to encode a 11 aa peptide
                     (PMID:9645350)"
     misc_feature    781..783
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="upstream in-frame stop codon"
     CDS             883..1602
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="isoform alpha is encoded by transcript variant
                     alpha; protein phosphatase 1, regulatory subunit 50; B-cell
                     CLL/lymphoma 2"
                     /codon_start=1
                     /product="apoptosis regulator Bcl-2 isoform alpha"
                     /protein_id="NP_000624.2"
                     /db_xref="CCDS:CCDS11981.1"
                     /db_xref="GeneID:596"
                     /db_xref="HGNC:HGNC:990"
                     /db_xref="MIM:151430"
                     /translation="MAHAGRTGYDNREIVMKYIHYKLSQRGYEWDAGDVGAAPPGAAPA
                     PGIFSSQPGHTPHPAASRDPVARTSPLQTPAAPGAAAGPALSPVPPVVHLTLRQAGDDF
                     SRRYRRDFAEMSSQLHLTPFTARGRFATVVEELFRDGVNWGRIVAFFEFGGVMCVESVN
                     REMSPLVDNIALWMTEYLNRHLHTWIQDNGGWDAFVELYGPSMRPLFDFSWLSLKTLLS
                     LALVGACITLGAYLGHK"
     misc_feature    910..972
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="propagated from UniProtKB/Swiss-Prot (P10415.2);
                     Region: BH4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00025"
     misc_feature    982..987
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="Cleavage, by caspase-3; propagated from
                     UniProtKB/Swiss-Prot (P10415.2); cleavage site"
     misc_feature    997..1137
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="propagated from UniProtKB/Swiss-Prot (P10415.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1087..1089
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="Phosphothreonine, by MAPK8.
                     /evidence=ECO:0000269|PubMed:18570871; propagated from
                     UniProtKB/Swiss-Prot (P10415.2); phosphorylation site"
     misc_feature    1090..1092
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="Phosphoserine, by MAPK8 and PKC.
                     /evidence=ECO:0000269|PubMed:18570871; propagated from
                     UniProtKB/Swiss-Prot (P10415.2); phosphorylation site"
     misc_feature    1141..1143
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="Phosphoserine, by MAPK8.
                     /evidence=ECO:0000269|PubMed:18570871; propagated from
                     UniProtKB/Swiss-Prot (P10415.2); phosphorylation site"
     misc_feature    1156..1203
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="propagated from UniProtKB/Swiss-Prot (P10415.2);
                     Region: Required for interaction with SEPTIN4 isoform ARTS.
                     Required XIAP-mediated ubiquitination and apoptosis.
                     /evidence=ECO:0000269|PubMed:29020630"
     misc_feature    1159..1203
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="propagated from UniProtKB/Swiss-Prot (P10415.2);
                     Region: BH3. /evidence=ECO:0000255"
     misc_feature    1288..1347
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="propagated from UniProtKB/Swiss-Prot (P10415.2);
                     Region: BH1. /evidence=ECO:0000255"
     misc_feature    1441..1488
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="propagated from UniProtKB/Swiss-Prot (P10415.2);
                     Region: BH2. /evidence=ECO:0000255"
     misc_feature    1516..1581
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="propagated from UniProtKB/Swiss-Prot (P10415.2);
                     transmembrane region"
     regulatory      6570..6575
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="hexamer: AATAAA"
     polyA_site      6591
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="major polyA site"
     regulatory      6858..6863
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="hexamer: AATAAA"
     polyA_site      6881
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="major polyA site"
ORIGIN
        1 acccctcgcc gcaccacaca cagcgcgggc ttctagcgct cggcaccggc gggccaggcg
       61 cgtcctgcct tcatttatcc agcagctttt cggaaaatgc atttgctgtt cggagtttaa
      121 tcagaagagg attcctgcct ccgtccccgg ctccttcatc gtcccctctc ccctgtctct
      181 ctcctgggga ggcgtgaagc ggtcccgtgg atagagattc atgcctgtgc ccgcgcgtgt
      241 gtgcgcgcgt gtaaattgcc gagaagggga aaacatcaca ggacttctgc gaataccgga
      301 ctgaaaattg taattcatct gccgccgccg ctgccttttt tttttctcga gctcttgaga
      361 tctccggttg ggattcctgc ggattgacat ttctgtgaag cagaagtctg ggaatcgatc
      421 tggaaatcct cctaattttt actccctctc cccgcgactc ctgattcatt gggaagtttc
      481 aaatcagcta taactggaga gtgctgaaga ttgatgggat cgttgcctta tgcatttgtt
      541 ttggttttac aaaaaggaaa cttgacagag gatcatgctg tacttaaaaa atacaacatc
      601 acagaggaag tagactgata ttaacaatac ttactaataa taacgtgcct catgaaataa
      661 agatccgaaa ggaattggaa taaaaatttc ctgcatctca tgccaagggg gaaacaccag
      721 aatcaagtgt tccgcgtgat tgaagacacc ccctcgtcca agaatgcaaa gcacatccaa
      781 taaaatagct ggattataac tcctcttctt tctctggggg ccgtggggtg ggagctgggg
      841 cgagaggtgc cgttggcccc cgttgctttt cctctgggaa ggatggcgca cgctgggaga
      901 acagggtacg ataaccggga gatagtgatg aagtacatcc attataagct gtcgcagagg
      961 ggctacgagt gggatgcggg agatgtgggc gccgcgcccc cgggggccgc ccccgcaccg
     1021 ggcatcttct cctcccagcc cgggcacacg ccccatccag ccgcatcccg ggacccggtc
     1081 gccaggacct cgccgctgca gaccccggct gcccccggcg ccgccgcggg gcctgcgctc
     1141 agcccggtgc cacctgtggt ccacctgacc ctccgccagg ccggcgacga cttctcccgc
     1201 cgctaccgcc gcgacttcgc cgagatgtcc agccagctgc acctgacgcc cttcaccgcg
     1261 cggggacgct ttgccacggt ggtggaggag ctcttcaggg acggggtgaa ctgggggagg
     1321 attgtggcct tctttgagtt cggtggggtc atgtgtgtgg agagcgtcaa ccgggagatg
     1381 tcgcccctgg tggacaacat cgccctgtgg atgactgagt acctgaaccg gcacctgcac
     1441 acctggatcc aggataacgg aggctgggat gcctttgtgg aactgtacgg ccccagcatg
     1501 cggcctctgt ttgatttctc ctggctgtct ctgaagactc tgctcagttt ggccctggtg
     1561 ggagcttgca tcaccctggg tgcctatctg ggccacaagt gaagtcaaca tgcctgcccc
     1621 aaacaaatat gcaaaaggtt cactaaagca gtagaaataa tatgcattgt cagtgatgta
     1681 ccatgaaaca aagctgcagg ctgtttaaga aaaaataaca cacatataaa catcacacac
     1741 acagacagac acacacacac acaacaatta acagtcttca ggcaaaacgt cgaatcagct
     1801 atttactgcc aaagggaaat atcatttatt ttttacatta ttaagaaaaa aagatttatt
     1861 tatttaagac agtcccatca aaactcctgt ctttggaaat ccgaccacta attgccaagc
     1921 accgcttcgt gtggctccac ctggatgttc tgtgcctgta aacatagatt cgctttccat
     1981 gttgttggcc ggatcaccat ctgaagagca gacggatgga aaaaggacct gatcattggg
     2041 gaagctggct ttctggctgc tggaggctgg ggagaaggtg ttcattcact tgcatttctt
     2101 tgccctgggg gctgtgatat taacagaggg agggttcctg tggggggaag tccatgcctc
     2161 cctggcctga agaagagact ctttgcatat gactcacatg atgcatacct ggtgggagga
     2221 aaagagttgg gaacttcaga tggacctagt acccactgag atttccacgc cgaaggacag
     2281 cgatgggaaa aatgccctta aatcatagga aagtattttt ttaagctacc aattgtgccg
     2341 agaaaagcat tttagcaatt tatacaatat catccagtac cttaagccct gattgtgtat
     2401 attcatatat tttggatacg caccccccaa ctcccaatac tggctctgtc tgagtaagaa
     2461 acagaatcct ctggaacttg aggaagtgaa catttcggtg acttccgcat caggaaggct
     2521 agagttaccc agagcatcag gccgccacaa gtgcctgctt ttaggagacc gaagtccgca
     2581 gaacctgcct gtgtcccagc ttggaggcct ggtcctggaa ctgagccggg gccctcactg
     2641 gcctcctcca gggatgatca acagggcagt gtggtctccg aatgtctgga agctgatgga
     2701 gctcagaatt ccactgtcaa gaaagagcag tagaggggtg tggctgggcc tgtcaccctg
     2761 gggccctcca ggtaggcccg ttttcacgtg gagcatggga gccacgaccc ttcttaagac
     2821 atgtatcact gtagagggaa ggaacagagg ccctgggccc ttcctatcag aaggacatgg
     2881 tgaaggctgg gaacgtgagg agaggcaatg gccacggccc attttggctg tagcacatgg
     2941 cacgttggct gtgtggcctt ggcccacctg tgagtttaaa gcaaggcttt aaatgacttt
     3001 ggagagggtc acaaatccta aaagaagcat tgaagtgagg tgtcatggat taattgaccc
     3061 ctgtctatgg aattacatgt aaaacattat cttgtcactg tagtttggtt ttatttgaaa
     3121 acctgacaaa aaaaaagttc caggtgtgga atatgggggt tatctgtaca tcctggggca
     3181 ttaaaaaaaa aatcaatggt ggggaactat aaagaagtaa caaaagaagt gacatcttca
     3241 gcaaataaac taggaaattt ttttttcttc cagtttagaa tcagccttga aacattgatg
     3301 gaataactct gtggcattat tgcattatat accatttatc tgtattaact ttggaatgta
     3361 ctctgttcaa tgtttaatgc tgtggttgat atttcgaaag ctgctttaaa aaaatacatg
     3421 catctcagcg tttttttgtt tttaattgta tttagttatg gcctatacac tatttgtgag
     3481 caaaggtgat cgttttctgt ttgagatttt tatctcttga ttcttcaaaa gcattctgag
     3541 aaggtgagat aagccctgag tctcagctac ctaagaaaaa cctggatgtc actggccact
     3601 gaggagcttt gtttcaacca agtcatgtgc atttccacgt caacagaatt gtttattgtg
     3661 acagttatat ctgttgtccc tttgaccttg tttcttgaag gtttcctcgt ccctgggcaa
     3721 ttccgcattt aattcatggt attcaggatt acatgcatgt ttggttaaac ccatgagatt
     3781 cattcagtta aaaatccaga tggcaaatga ccagcagatt caaatctatg gtggtttgac
     3841 ctttagagag ttgctttacg tggcctgttt caacacagac ccacccagag ccctcctgcc
     3901 ctccttccgc gggggctttc tcatggctgt ccttcagggt cttcctgaaa tgcagtggtg
     3961 cttacgctcc accaagaaag caggaaacct gtggtatgaa gccagacctc cccggcgggc
     4021 ctcagggaac agaatgatca gacctttgaa tgattctaat ttttaagcaa aatattattt
     4081 tatgaaaggt ttacattgtc aaagtgatga atatggaata tccaatcctg tgctgctatc
     4141 ctgccaaaat cattttaatg gagtcagttt gcagtatgct ccacgtggta agatcctcca
     4201 agctgcttta gaagtaacaa tgaagaacgt ggacgttttt aatataaagc ctgttttgtc
     4261 ttttgttgtt gttcaaacgg gattcacaga gtatttgaaa aatgtatata tattaagagg
     4321 tcacgggggc taattgctgg ctggctgcct tttgctgtgg ggttttgtta cctggtttta
     4381 ataacagtaa atgtgcccag cctcttggcc ccagaactgt acagtattgt ggctgcactt
     4441 gctctaagag tagttgatgt tgcattttcc ttattgttaa aaacatgtta gaagcaatga
     4501 atgtatataa aagcctcaac tagtcatttt tttctcctct tctttttttt cattatatct
     4561 aattattttg cagttgggca acagagaacc atccctattt tgtattgaag agggattcac
     4621 atctgcatct taactgctct ttatgaatga aaaaacagtc ctctgtatgt actcctcttt
     4681 acactggcca gggtcagagt taaatagagt atatgcactt tccaaattgg ggacaagggc
     4741 tctaaaaaaa gccccaaaag gagaagaaca tctgagaacc tcctcggccc tcccagtccc
     4801 tcgctgcaca aatactccgc aagagaggcc agaatgacag ctgacagggt ctatggccat
     4861 cgggtcgtct ccgaagattt ggcaggggca gaaaactctg gcaggcttaa gatttggaat
     4921 aaagtcacag aattaaggaa gcacctcaat ttagttcaaa caagacgcca acattctctc
     4981 cacagctcac ttacctctct gtgttcagat gtggccttcc atttatatgt gatctttgtt
     5041 ttattagtaa atgcttatca tctaaagatg tagctctggc ccagtgggaa aaattaggaa
     5101 gtgattataa atcgagagga gttataataa tcaagattaa atgtaaataa tcagggcaat
     5161 cccaacacat gtctagcttt cacctccagg atctattgag tgaacagaat tgcaaatagt
     5221 ctctatttgt aattgaactt atcctaaaac aaatagttta taaatgtgaa cttaaactct
     5281 aattaattcc aactgtactt ttaaggcagt ggctgttttt agactttctt atcacttata
     5341 gttagtaatg tacacctact ctatcagaga aaaacaggaa aggctcgaaa tacaagccat
     5401 tctaaggaaa ttagggagtc agttgaaatt ctattctgat cttattctgt ggtgtctttt
     5461 gcagcccaga caaatgtggt tacacacttt ttaagaaata caattctaca ttgtcaagct
     5521 tatgaaggtt ccaatcagat ctttattgtt attcaatttg gatctttcag ggattttttt
     5581 tttaaattat tatgggacaa aggacatttg ttggaggggt gggagggagg aagaattttt
     5641 aaatgtaaaa cattcccaag tttggatcag ggagttggaa gttttcagaa taaccagaac
     5701 taagggtatg aaggacctgt attggggtcg atgtgatgcc tctgcgaaga accttgtgtg
     5761 acaaatgaga aacattttga agtttgtggt acgaccttta gattccagag acatcagcat
     5821 ggctcaaagt gcagctccgt ttggcagtgc aatggtataa atttcaagct ggatatgtct
     5881 aatgggtatt taaacaataa atgtgcagtt ttaactaaca ggatatttaa tgacaacctt
     5941 ctggttggta gggacatctg tttctaaatg tttattatgt acaatacaga aaaaaatttt
     6001 ataaaattaa gcaatgtgaa actgaattgg agagtgataa tacaagtcct ttagtcttac
     6061 ccagtgaatc attctgttcc atgtctttgg acaaccatga ccttggacaa tcatgaaata
     6121 tgcatctcac tggatgcaaa gaaaatcaga tggagcatga atggtactgt accggttcat
     6181 ctggactgcc ccagaaaaat aacttcaagc aaacatccta tcaacaacaa ggttgttctg
     6241 cataccaagc tgagcacaga agatgggaac actggtggag gatggaaagg ctcgctcaat
     6301 caagaaaatt ctgagactat taataaataa gactgtagtg tagatactga gtaaatccat
     6361 gcacctaaac cttttggaaa atctgccgtg ggccctccag atagctcatt tcattaagtt
     6421 tttccctcca aggtagaatt tgcaagagtg acagtggatt gcatttcttt tggggaagct
     6481 ttcttttggt ggttttgttt attatacctt cttaagtttt caaccaaggt ttgcttttgt
     6541 tttgagttac tggggttatt tttgttttaa ataaaaataa gtgtacaata agtgtttttg
     6601 tattgaaagc ttttgttatc aagattttca tacttttacc ttccatggct ctttttaaga
     6661 ttgatacttt taagaggtgg ctgatattct gcaacactgt acacataaaa aatacggtaa
     6721 ggatacttta catggttaag gtaaagtaag tctccagttg gccaccatta gctataatgg
     6781 cactttgttt gtgttgttgg aaaaagtcac attgccatta aactttcctt gtctgtctag
     6841 ttaatattgt gaagaaaaat aaagtacagt gtgagatact g
//
LOCUS       NM_000634               2459 bp    mRNA    linear   PRI 23-MAY-2023
DEFINITION  Homo sapiens C-X-C motif chemokine receptor 1 (CXCR1), mRNA.
ACCESSION   NM_000634
VERSION     NM_000634.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2459)
  AUTHORS   Ai X, Fu HY, Xu JM, Yang WX and Tang YM.
  TITLE     [Roles of the CXCR1/CXCL8 axis in abnormal proliferation of bile
            duct epithelial cells in primary biliary cholangitis]
  JOURNAL   Zhonghua Gan Zang Bing Za Zhi 31 (2), 174-180 (2023)
   PUBMED   37137833
  REMARK    GeneRIF: [Roles of the CXCR1/CXCL8 axis in abnormal proliferation of
            bile duct epithelial cells in primary biliary cholangitis].
REFERENCE   2  (bases 1 to 2459)
  AUTHORS   Smycz-Kubanska M, Stepien S, Gola JM, Kruszniewska-Rajs C, Wendlocha
            D, Krolewska-Daszczynska P, Strzelec A, Strzelczyk J, Szanecki W,
            Witek A and Mielczarek-Palacz A.
  TITLE     Analysis of CXCL8 and its receptors CXCR1/CXCR2 at the mRNA level in
            neoplastic tissue, as well as in serum and peritoneal fluid in
            patients with ovarian cance
  JOURNAL   Mol Med Rep 26 (4) (2022)
   PUBMED   35920183
  REMARK    GeneRIF: Analysis of CXCL8 and its receptors CXCR1/CXCR2 at the mRNA
            level in neoplastic tissue, as well as in serum and peritoneal fluid
            in patients with ovarian cance.
REFERENCE   3  (bases 1 to 2459)
  AUTHORS   Smycz-Kubanska M, Mamrocha A, Wendlocha D, Krolewska-Daszczynska P,
            Strzelec A, Stepien S and Mielczarek-Palacz A.
  TITLE     Analysis of the concentration of CXCL8 chemokine and its CXCR1 and
            CXCR2 receptors in peritoneal fluid of women with endometriosis
  JOURNAL   Pol Merkur Lekarski 50 (298), 232-236 (2022)
   PUBMED   36086981
  REMARK    GeneRIF: Analysis of the concentration of CXCL8 chemokine and its
            CXCR1 and CXCR2 receptors in peritoneal fluid of women with
            endometriosis.
REFERENCE   4  (bases 1 to 2459)
  AUTHORS   Ren J, Xu N, Zhou R, Huang F, Zhang H and Li W.
  TITLE     Long non-coding RNA PCED1B antisense RNA 1 promotes gastric cancer
            progression via modulating microRNA-215-3p / C-X-C motif chemokine
            receptor 1 axis
  JOURNAL   Bioengineered 12 (1), 6083-6095 (2021)
   PUBMED   34516330
  REMARK    GeneRIF: Long non-coding RNA PCED1B antisense RNA 1 promotes gastric
            cancer progression via modulating microRNA-215-3p / C-X-C motif
            chemokine receptor 1 axis.
REFERENCE   5  (bases 1 to 2459)
  AUTHORS   Murashka DI, Tahanovich AD, Kauhanka MM, Prokhorova VI and Gotko OV.
  TITLE     [Diagnostic efficiency of determining CXCR1, CXCR2 and hyaluronic
            acid blood level in non-small cell lung cancer patients]
  JOURNAL   Biomed Khim 67 (5), 434-442 (2021)
   PUBMED   34730557
  REMARK    GeneRIF: [Diagnostic efficiency of determining CXCR1, CXCR2 and
            hyaluronic acid blood level in non-small cell lung cancer
            patients].', trans 'Diagnosticheskaia effektivnost' opredeleniia
            urovnia retseptorov CXCR1, CXCR2 i gialuronovoi kisloty v krovi pri
            nemelkokletochnom rake legkogo.
REFERENCE   6  (bases 1 to 2459)
  AUTHORS   Morris SW, Nelson N, Valentine MB, Shapiro DN, Look AT, Kozlosky CJ,
            Beckmann MP and Cerretti DP.
  TITLE     Assignment of the genes encoding human interleukin-8 receptor types
            1 and 2 and an interleukin-8 receptor pseudogene to chromosome 2q35
  JOURNAL   Genomics 14 (3), 685-691 (1992)
   PUBMED   1427896
REFERENCE   7  (bases 1 to 2459)
  AUTHORS   Ahuja SK, Ozcelik T, Milatovitch A, Francke U and Murphy PM.
  TITLE     Molecular evolution of the human interleukin-8 receptor gene cluster
  JOURNAL   Nat Genet 2 (1), 31-36 (1992)
   PUBMED   1303245
REFERENCE   8  (bases 1 to 2459)
  AUTHORS   Lee J, Horuk R, Rice GC, Bennett GL, Camerato T and Wood WI.
  TITLE     Characterization of two high affinity human interleukin-8 receptors
  JOURNAL   J Biol Chem 267 (23), 16283-16287 (1992)
   PUBMED   1379593
REFERENCE   9  (bases 1 to 2459)
  AUTHORS   Holmes WE, Lee J, Kuang WJ, Rice GC and Wood WI.
  TITLE     Structure and functional expression of a human interleukin-8
            receptor
  JOURNAL   Science 253 (5025), 1278-1280 (1991)
   PUBMED   1840701
REFERENCE   10  (bases 1 to 2459)
  AUTHORS   Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M and Kaziro Y.
  TITLE     Presence of three distinct molecular species of Gi protein alpha
            subunit. Structure of rat cDNAs and human genomic DNAs
  JOURNAL   J Biol Chem 263 (14), 6656-6664 (1988)
   PUBMED   2834384
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.224472.1,
            DRR138517.833245.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000295683.3/ ENSP00000295683.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC097483.3.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000634.2.
            Summary: The protein encoded by this gene is a member of the
            G-protein-coupled receptor family. This protein is a receptor for
            interleukin 8 (IL8). It binds to IL8 with high affinity, and
            transduces the signal through a G-protein activated second
            messenger system. Knockout studies in mice suggested that this
            protein inhibits embryonic oligodendrocyte precursor migration in
            developing spinal cord. This gene, IL8RB, a gene encoding another
            high affinity IL8 receptor, as well as IL8RBP, a pseudogene of
            IL8RB, form a gene cluster in a region mapped to chromosome
            2q33-q36. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2459
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..2459
                     /gene="CXCR1"
                     /gene_synonym="C-C; C-C-CKR-1; CD128; CD181; CDw128a;
                     CKR-1; CMKAR1; IL8R1; IL8RA; IL8RBA"
                     /note="C-X-C motif chemokine receptor 1"
                     /db_xref="GeneID:3577"
                     /db_xref="HGNC:HGNC:6026"
                     /db_xref="MIM:146929"
     misc_feature    5..7
                     /gene="CXCR1"
                     /gene_synonym="C-C; C-C-CKR-1; CD128; CD181; CDw128a;
                     CKR-1; CMKAR1; IL8R1; IL8RA; IL8RBA"
                     /note="upstream in-frame stop codon"
     CDS             89..1141
                     /gene="CXCR1"
                     /gene_synonym="C-C; C-C-CKR-1; CD128; CD181; CDw128a;
                     CKR-1; CMKAR1; IL8R1; IL8RA; IL8RBA"
                     /note="interleukin 8 receptor, alpha; high affinity
                     interleukin-8 receptor A; IL-8 receptor type 1; chemokine
                     (C-X-C motif) receptor 1; interleukin-8 receptor type 1;
                     interleukin-8 receptor type A; CXC-R1; CXCR-1; IL-8R A"
                     /codon_start=1
                     /product="C-X-C chemokine receptor type 1"
                     /protein_id="NP_000625.1"
                     /db_xref="CCDS:CCDS2409.1"
                     /db_xref="GeneID:3577"
                     /db_xref="HGNC:HGNC:6026"
                     /db_xref="MIM:146929"
                     /translation="MSNITDPQMWDFDDLNFTGMPPADEDYSPCMLETETLNKYVVIIA
                     YALVFLLSLLGNSLVMLVILYSRVGRSVTDVYLLNLALADLLFALTLPIWAASKVNGWI
                     FGTFLCKVVSLLKEVNFYSGILLLACISVDRYLAIVHATRTLTQKRHLVKFVCLGCWGL
                     SMNLSLPFFLFRQAYHPNNSSPVCYEVLGNDTAKWRMVLRILPHTFGFIVPLFVMLFCY
                     GFTLRTLFKAHMGQKHRAMRVIFAVVLIFLLCWLPYNLVLLADTLMRTQVIQESCERRN
                     NIGRALDATEILGFLHSCLNPIIYAFIGQNFRHGFLKILAMHGLVSKEFLARHRVTSYT
                     SSSVNVSSNL"
     misc_feature    95..97
                     /gene="CXCR1"
                     /gene_synonym="C-C; C-C-CKR-1; CD128; CD181; CDw128a;
                     CKR-1; CMKAR1; IL8R1; IL8RA; IL8RBA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P25024.2); glycosylation site"
     misc_feature    134..136
                     /gene="CXCR1"
                     /gene_synonym="C-C; C-C-CKR-1; CD128; CD181; CDw128a;
                     CKR-1; CMKAR1; IL8R1; IL8RA; IL8RBA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P25024.2); glycosylation site"
     misc_feature    206..286
                     /gene="CXCR1"
                     /gene_synonym="C-C; C-C-CKR-1; CD128; CD181; CDw128a;
                     CKR-1; CMKAR1; IL8R1; IL8RA; IL8RBA"
                     /note="propagated from UniProtKB/Swiss-Prot (P25024.2);
                     transmembrane region"
     misc_feature    314..376
                     /gene="CXCR1"
                     /gene_synonym="C-C; C-C-CKR-1; CD128; CD181; CDw128a;
                     CKR-1; CMKAR1; IL8R1; IL8RA; IL8RBA"
                     /note="propagated from UniProtKB/Swiss-Prot (P25024.2);
                     transmembrane region"
     misc_feature    422..487
                     /gene="CXCR1"
                     /gene_synonym="C-C; C-C-CKR-1; CD128; CD181; CDw128a;
                     CKR-1; CMKAR1; IL8R1; IL8RA; IL8RBA"
                     /note="propagated from UniProtKB/Swiss-Prot (P25024.2);
                     transmembrane region"
     misc_feature    551..610
                     /gene="CXCR1"
                     /gene_synonym="C-C; C-C-CKR-1; CD128; CD181; CDw128a;
                     CKR-1; CMKAR1; IL8R1; IL8RA; IL8RBA"
                     /note="propagated from UniProtKB/Swiss-Prot (P25024.2);
                     transmembrane region"
     misc_feature    686..748
                     /gene="CXCR1"
                     /gene_synonym="C-C; C-C-CKR-1; CD128; CD181; CDw128a;
                     CKR-1; CMKAR1; IL8R1; IL8RA; IL8RBA"
                     /note="propagated from UniProtKB/Swiss-Prot (P25024.2);
                     transmembrane region"
     misc_feature    815..880
                     /gene="CXCR1"
                     /gene_synonym="C-C; C-C-CKR-1; CD128; CD181; CDw128a;
                     CKR-1; CMKAR1; IL8R1; IL8RA; IL8RBA"
                     /note="propagated from UniProtKB/Swiss-Prot (P25024.2);
                     transmembrane region"
     misc_feature    944..1012
                     /gene="CXCR1"
                     /gene_synonym="C-C; C-C-CKR-1; CD128; CD181; CDw128a;
                     CKR-1; CMKAR1; IL8R1; IL8RA; IL8RBA"
                     /note="propagated from UniProtKB/Swiss-Prot (P25024.2);
                     transmembrane region"
     regulatory      1955..1960
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CXCR1"
                     /gene_synonym="C-C; C-C-CKR-1; CD128; CD181; CDw128a;
                     CKR-1; CMKAR1; IL8R1; IL8RA; IL8RBA"
                     /note="hexamer: AATAAA"
     polyA_site      1974
                     /gene="CXCR1"
                     /gene_synonym="C-C; C-C-CKR-1; CD128; CD181; CDw128a;
                     CKR-1; CMKAR1; IL8R1; IL8RA; IL8RBA"
                     /note="major polyA site"
     regulatory      2439..2444
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CXCR1"
                     /gene_synonym="C-C; C-C-CKR-1; CD128; CD181; CDw128a;
                     CKR-1; CMKAR1; IL8R1; IL8RA; IL8RBA"
                     /note="hexamer: AATAAT"
     polyA_site      2459
                     /gene="CXCR1"
                     /gene_synonym="C-C; C-C-CKR-1; CD128; CD181; CDw128a;
                     CKR-1; CMKAR1; IL8R1; IL8RA; IL8RBA"
                     /note="major polyA site"
ORIGIN
        1 actctgatct ctgactgcag ctcctactgt tggacacacc tggccggtgc ttcagttaga
       61 tcaaaccatt gctgaaactg aagaggacat gtcaaatatt acagatccac agatgtggga
      121 ttttgatgat ctaaatttca ctggcatgcc acctgcagat gaagattaca gcccctgtat
      181 gctagaaact gagacactca acaagtatgt tgtgatcatc gcctatgccc tagtgttcct
      241 gctgagcctg ctgggaaact ccctggtgat gctggtcatc ttatacagca gggtcggccg
      301 ctccgtcact gatgtctacc tgctgaacct ggccttggcc gacctactct ttgccctgac
      361 cttgcccatc tgggccgcct ccaaggtgaa tggctggatt tttggcacat tcctgtgcaa
      421 ggtggtctca ctcctgaagg aagtcaactt ctacagtggc atcctgctgt tggcctgcat
      481 cagtgtggac cgttacctgg ccattgtcca tgccacacgc acactgaccc agaagcgtca
      541 cttggtcaag tttgtttgtc ttggctgctg gggactgtct atgaatctgt ccctgccctt
      601 cttccttttc cgccaggctt accatccaaa caattccagt ccagtttgct atgaggtcct
      661 gggaaatgac acagcaaaat ggcggatggt gttgcggatc ctgcctcaca cctttggctt
      721 catcgtgccg ctgtttgtca tgctgttctg ctatggattc accctgcgta cactgtttaa
      781 ggcccacatg gggcagaagc accgagccat gagggtcatc tttgctgtcg tcctcatctt
      841 cctgctttgc tggctgccct acaacctggt cctgctggca gacaccctca tgaggaccca
      901 ggtgatccag gagagctgtg agcgccgcaa caacatcggc cgggccctgg atgccactga
      961 gattctggga tttctccata gctgcctcaa ccccatcatc tacgccttca tcggccaaaa
     1021 ttttcgccat ggattcctca agatcctggc tatgcatggc ctggtcagca aggagttctt
     1081 ggcacgtcat cgtgttacct cctacacttc ttcgtctgtc aatgtctctt ccaacctctg
     1141 aaaaccatcg atgaaggaat atctcttctc agaaggaaag aataaccaac accctgaggt
     1201 tgtgtgtgga aggtgatctg gctctggaca ggcactatct gggttttggg gggacgctat
     1261 aggatgtggg gaagttagga actggtgtct tcaggggcca caccaacctt ctgaggagct
     1321 gttgaggtac ctccaaggac cggcctttgc acctccatgg aaacgaagca ccatcattcc
     1381 cgttgaacgt cacatcttta acccactaac tggctaatta gcatggccac atctgagccc
     1441 cgaatctgac attagatgag agaacagggc tgaagctgtg tcctcatgag ggctggatgc
     1501 tctcgttgac cctcacagga gcatctcctc aactctgagt gttaagcgtt gagccaccaa
     1561 gctggtggct ctgtgtgctc tgatccgagc tcaggggggt ggttttccca tctcaggtgt
     1621 gttgcagtgt ctgctggaga cattgaggca ggcactgcca aaacatcaac ctgccagctg
     1681 gccttgtgag gagctggaaa cacatgttcc ccttgggggt ggtggatgaa caaagagaaa
     1741 gagggtttgg aagccagatc tatgccacaa gaaccccctt tacccccatg accaacatcg
     1801 cagacacatg tgctggccac ctgctgagcc ccaagtggaa cgagacaagc agcccttagc
     1861 ccttcccctc tgcagcttcc aggctggcgt gcagcatcag catccctaga aagccatgtg
     1921 cagccaccag tccattgggc aggcagatgt tcctaataaa gcttctgttc cgtgcttgtc
     1981 cctgtggaag tatcttggtt gtgacagagt caagggtgtg tgcagcattg ttggctgttc
     2041 ctgcagtaga atgggggcag cacctcctaa gaaggcacct ctctgggttg aagggcagtg
     2101 ttccctgggg ctttaactcc tgctagaaca gtctcttgag gcacagaaac tcctgttcat
     2161 gcccataccc ctggccaagg aagatccctt tgtccacaag taaaaggaaa tgctcctcca
     2221 gggagtctca gcttcaccct gaggtgagca tcatcttctg ggttaggcct tgcctaggca
     2281 tagccctgcc tcaagctatg tgagctcacc agtccctccc caaatgcttt ccatgagttg
     2341 cagttttttc ctagtctgtt ttccctcctt ggagacaggg ccctgtcggt ttattcactg
     2401 tatgtccttg gtgcctggag cctactaaat gctcaataaa taatgatcac aggaatgaa
//
LOCUS       NM_000635               3959 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens regulatory factor X2 (RFX2), transcript variant 1,
            mRNA.
ACCESSION   NM_000635
VERSION     NM_000635.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3959)
  AUTHORS   Pal S, Paladhi P, Dutta S, Bose G, Ghosh P, Chattopadhyay R,
            Chakravarty B, Saha I and Ghosh S.
  TITLE     Novel variations in spermatogenic transcription regulators RFX2 and
            TAF7 increase risk of azoospermia
  JOURNAL   J Assist Reprod Genet 38 (12), 3195-3212 (2021)
   PUBMED   34762273
  REMARK    GeneRIF: Novel variations in spermatogenic transcription regulators
            RFX2 and TAF7 increase risk of azoospermia.
REFERENCE   2  (bases 1 to 3959)
  AUTHORS   Koay TW, Osterhof C, Orlando IMC, Keppner A, Andre D, Yousefian S,
            Suarez Alonso M, Correia M, Markworth R, Schodel J, Hankeln T and
            Hoogewijs D.
  TITLE     Androglobin gene expression patterns and FOXJ1-dependent regulation
            indicate its functional association with ciliogenesis
  JOURNAL   J Biol Chem 296, 100291 (2021)
   PUBMED   33453283
  REMARK    GeneRIF: Androglobin gene expression patterns and FOXJ1-dependent
            regulation indicate its functional association with ciliogenesis.
REFERENCE   3  (bases 1 to 3959)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3959)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 3959)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S, Das
            PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A, Ginno
            PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of human
            transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (bases 1 to 3959)
  AUTHORS   Morotomi-Yano K, Yano K, Saito H, Sun Z, Iwama A and Miki Y.
  TITLE     Human regulatory factor X 4 (RFX4) is a testis-specific dimeric
            DNA-binding protein that cooperates with other human RFX members
  JOURNAL   J Biol Chem 277 (1), 836-842 (2002)
   PUBMED   11682486
REFERENCE   7  (bases 1 to 3959)
  AUTHORS   Iwama A, Pan J, Zhang P, Reith W, Mach B, Tenen DG and Sun Z.
  TITLE     Dimeric RFX proteins contribute to the activity and lineage
            specificity of the interleukin-5 receptor alpha promoter through
            activation and repression domains
  JOURNAL   Mol Cell Biol 19 (6), 3940-3950 (1999)
   PUBMED   10330134
REFERENCE   8  (bases 1 to 3959)
  AUTHORS   Doyle J, Hoffman S, Ucla C, Reith W, Mach B and Stubbs L.
  TITLE     Locations of human and mouse genes encoding the RFX1 and RFX2
            transcription factor proteins
  JOURNAL   Genomics 35 (1), 227-230 (1996)
   PUBMED   8661125
REFERENCE   9  (bases 1 to 3959)
  AUTHORS   Reith W, Ucla C, Barras E, Gaud A, Durand B, Herrero-Sanchez C, Kobr
            M and Mach B.
  TITLE     RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a
            novel family of homodimeric and heterodimeric DNA-binding proteins
  JOURNAL   Mol Cell Biol 14 (2), 1230-1244 (1994)
   PUBMED   8289803
REFERENCE   10  (bases 1 to 3959)
  AUTHORS   Pugliatti L, Derre J, Berger R, Ucla C, Reith W and Mach B.
  TITLE     The genes for MHC class II regulatory factors RFX1 and RFX2 are
            located on the short arm of chromosome 19
  JOURNAL   Genomics 13 (4), 1307-1310 (1992)
   PUBMED   1505960
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC071571.1, SRR1660809.196488.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000303657.10/ ENSP00000306335.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC028579.1, BC071571.1 and
            AI149945.1.
            On Nov 23, 2018 this sequence version replaced NM_000635.3.
            Summary: This gene is a member of the regulatory factor X gene
            family, which encodes transcription factors that contain a
            highly-conserved winged helix DNA binding domain. The protein
            encoded by this gene is structurally related to regulatory factors
            X1, X3, X4, and X5. It is a transcriptional activator that can bind
            DNA as a monomer or as a heterodimer with other RFX family members.
            This protein can bind to cis elements in the promoter of the IL-5
            receptor alpha gene. Two transcript variants encoding different
            isoforms have been described for this gene, and both variants
            utilize alternative polyadenylation sites. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (1) is the longer transcript and
            encodes the longer protein (isoform a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3959
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..3959
                     /gene="RFX2"
                     /note="regulatory factor X2"
                     /db_xref="GeneID:5990"
                     /db_xref="HGNC:HGNC:9983"
                     /db_xref="MIM:142765"
     CDS             117..2288
                     /gene="RFX2"
                     /note="isoform a is encoded by transcript variant 1;
                     trans-acting regulatory factor 2; HLA class II regulatory
                     factor RFX2; DNA-binding protein RFX2; regulatory factor X
                     2; regulatory factor X, 2 (influences HLA class II
                     expression)"
                     /codon_start=1
                     /product="DNA-binding protein RFX2 isoform a"
                     /protein_id="NP_000626.2"
                     /db_xref="CCDS:CCDS12157.1"
                     /db_xref="GeneID:5990"
                     /db_xref="HGNC:HGNC:9983"
                     /db_xref="MIM:142765"
                     /translation="MQNSEGGADSPASVALRPSAAAPPVPASPQRVLVQAASSNPKGAQ
                     MQPISLPRVQQVPQQVQPVQHVYPAQVQYVEGGDAVYTNGAIRTAYTYNPEPQMYAPSS
                     TASYFEAPGGAQVTVAASSPPAVPSHSMVGITMDVGGSPIVSSAGAYLIHGGMDSTRHS
                     LAHTSRSSPATLEMAIENLQKSEGITSHKSGLLNSHLQWLLDNYETAEGVSLPRSSLYN
                     HYLRHCQEHKLDPVNAASFGKLIRSVFMGLRTRRLGTRGNSKYHYYGIRLKPDSPLNRL
                     QEDTQYMAMRQQPMHQKPRYRPAQKTDSLGDSGSHSGLHSTPEQTMAVQSQHHQQYIDV
                     SHVFPEFPAPDLGSFLLQDGVTLHDVKALQLVYRRHCEATVDVVMNLQFHYIEKLWLSF
                     WNSKASSSDGPTSLPASDEDPEGAVLPKDKLISLCQCDPILRWMRSCDHILYQALVEIL
                     IPDVLRPVPSTLTQAIRNFAKSLEGWLTNAMSDFPQQVIQTKVGVVSAFAQTLRRYTSL
                     NHLAQAARAVLQNTSQINQMLSDLNRVDFANVQEQASWVCQCEESVVQRLEQDFKLTLQ
                     QQSSLDQWASWLDSVVTQVLKQHAGSPSFPKAARQFLLKWSFYSSMVIRDLTLRSAASF
                     GSFHLIRLLYDEYMFYLVEHRVAEATGETPIAVMGEFNDLASLSLTLLDKDDMGDEQRG
                     SEAGPDARSLGEPLVKRERSDPNHSLQGI"
     misc_feature    117..254
                     /gene="RFX2"
                     /note="propagated from UniProtKB/Swiss-Prot (P48378.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    198..200
                     /gene="RFX2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P48378.2); phosphorylation site"
     misc_feature    990..1112
                     /gene="RFX2"
                     /note="propagated from UniProtKB/Swiss-Prot (P48378.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1362..1364
                     /gene="RFX2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B2GV50; propagated from
                     UniProtKB/Swiss-Prot (P48378.2); phosphorylation site"
     misc_feature    2178..2285
                     /gene="RFX2"
                     /note="propagated from UniProtKB/Swiss-Prot (P48378.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    639..713
                     /gene="RFX2"
                     /note="Region: alternate exon present in variant 1"
     polyA_site      3620
                     /gene="RFX2"
     regulatory      3937..3942
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFX2"
                     /note="hexamer: AATACA"
     polyA_site      3959
                     /gene="RFX2"
                     /note="major polyA site"
ORIGIN
        1 atagagactg tagccgtgga gactgttact taccaacggg gaccaacacg cagcagccgc
       61 tgccgccgcc gcgggagccg ctgcccgaac tcccggcccg aactccagac ctgagcatgc
      121 agaattccga gggtggagcg gattcgccag cgtccgtggc tctgcgtccc tcggcggcag
      181 ccccgcctgt gccagcctcc ccgcagaggg tgttggtcca ggcagccagc tccaatccca
      241 aaggggccca gatgcagccg atctccctcc ccagagttca gcaggtaccc cagcaggtgc
      301 agccggtgca gcacgtgtat cctgcccagg tgcagtacgt ggaaggggga gacgccgtct
      361 acaccaatgg agccatacga acagcctaca cctacaaccc cgagcctcag atgtacgccc
      421 ccagcagcac ggcttcttac ttcgaggccc caggcggtgc ccaggtgacc gtggcagcct
      481 cgtccccgcc agcggtcccc tcccacagca tggtgggcat caccatggat gtcgggggga
      541 gccccatcgt ctccagcgcg ggagcctatc tcatccacgg ggggatggac agcaccagac
      601 actccctggc ccacacctcc cgctcatcgc ccgccacgct tgaaatggcg attgaaaacc
      661 tccaaaaaag cgaaggaatc acatcacaca aaagcggttt actcaacagc catctccagt
      721 ggctgttgga taattatgaa acagcggaag gtgtgagtct ccccagaagt tctctttaca
      781 accactacct tcggcactgc caggagcaca agctagaccc agtgaacgcc gcctccttcg
      841 ggaaactgat ccgttctgtg tttatggggc tgagaacgcg gcggctgggc accaggggca
      901 actcgaagta ccattactat gggattcgtc tgaagccgga ctcaccactg aaccggctgc
      961 aggaggacac gcagtacatg gccatgcggc agcagcccat gcaccagaag cccaggtacc
     1021 ggccagccca gaagacggac agcctcgggg acagcggctc ccacagcggc ctgcacagca
     1081 ctccggaaca gaccatggcc gtgcagagcc agcaccacca gcagtacata gatgtctccc
     1141 acgtcttccc cgagttccca gcgcccgacc tgggcagctt cctgctgcag gacggcgtca
     1201 cactgcacga cgtcaaggcc ctgcagctgg tgtacagacg gcactgcgag gcaactgtag
     1261 atgtggtgat gaacctccag ttccactaca tcgagaagct gtggctctcc ttctggaact
     1321 ctaaggcctc ctccagcgac ggccccacct ctcttcctgc cagtgacgaa gaccccgagg
     1381 gcgccgtcct gcccaaggac aagcttatct ccctgtgtca gtgcgacccc atcctcaggt
     1441 ggatgaggag ctgcgaccac atcctctacc aggcgctggt ggagattctc atccccgacg
     1501 tgctgaggcc ggtccccagt accttgacac aggccatccg taactttgcc aagagcttgg
     1561 aaggctggtt gacaaatgcc atgagtgact tcccacaaca ggtcatccag accaaggtgg
     1621 gcgtcgtcag tgccttcgcc cagacgctgc ggcgctacac gtccctcaac cacctggcgc
     1681 aggcggcccg ggcggtgctg cagaacacgt cccagatcaa ccagatgctc agcgacctca
     1741 accgcgtgga ctttgccaac gtgcaggagc aggcctcgtg ggtgtgccag tgcgaggaga
     1801 gtgtggtgca gcggctggag caggatttca agctgaccct gcagcagcag agctccctgg
     1861 accagtgggc cagctggctg gacagtgtgg tcacccaggt cctgaagcag catgccggca
     1921 gccccagctt ccccaaggcc gcccggcagt tcttgctgaa atggtccttt tacagctcca
     1981 tggtgatccg ggacctgacc ctgcgcagcg ctgccagctt cggctccttc cacctcatcc
     2041 gcctgctcta cgacgagtac atgttctacc tggtggagca ccgcgtcgcg gaggccaccg
     2101 gagagacgcc gatcgctgtg atgggagagt tcaacgatct cgcctctctg tcgctgacgc
     2161 tgctcgacaa agatgacatg ggcgatgagc agcgtggcag cgaggcgggc ccagacgccc
     2221 gcagcctggg tgagcccctg gtaaagcggg agcgcagtga ccccaaccac tccctgcagg
     2281 gcatctagca gccccggccg gcgcctcctc gaggttccaa aagatgccgc ctggtcactc
     2341 tgggaacctg gatttcaccg gctccaccaa attagtgcct cttagatgat gtgatgttta
     2401 ctttgactca agcgggggct cccggggtca gtgttcaaga aggaaagcag ttgttgaagc
     2461 tacagaagcc caggccaggg ctcccactgg ctgtagctgt gctctgggtc cccaggtccc
     2521 tgcgcagcca ccagggcccc accagaccat gggttcctta ttctggacaa accctcctct
     2581 gctggaaccc tggactttgg ccccagtccc tttaagagct gaaagggctg tgctgagagc
     2641 actggcctct gcactcaact ggaaccaatt ttcaccatga ttttaaaaat taaaaaaacc
     2701 tggcagagcc cgactagaaa gggacggcct ctcccctcct acctgccacc gctggggagg
     2761 cacagagctc gccagcgtcc ctggagtccc ctcaggaatg gaaagtggag tgcccttgtc
     2821 tggtagcacc atgtgggagg gacccagctg ggcgcagcgc cctgtggcct tttagatcca
     2881 gacctccctg ccggatgccc cgaggcggga ggccggctgt gctgcaggaa cccatctcca
     2941 gatgccaaag gacttgaggg gcagctgaca atcgctgtgt cccggcagat ccgcagctcg
     3001 aaaaagaaca agccacagaa acgggctcgc tcgtgccagg acacagcagt gtctttcaaa
     3061 aaatcaaaac cagaagtttt atcagcagca ggaaggatgt gggactctgt ccaagttcac
     3121 cgtcaccatc aagccactgg ctgtggaagg agtttgtcca acagggtcag tgtcacagcc
     3181 acaacttcag aaagcagcca tcccgcgtgt cgtccaaaca gcagtgcctg cgtcccgctc
     3241 cacggagtct tccagaacac ctccctctga actaatcccg gagcacccca cccccagcga
     3301 gtcccacctg gacctcttca aagtcaaaac tcttctctcg ggacaaacaa atattcggga
     3361 ctttcgaagc cctgaacttg agacaccaag tttgtctcca tggaaacacg tagccgctgc
     3421 agttggacag ctgcgtgctg gagttctgtc cccaaaccaa ctgcagagaa gaaagacgag
     3481 cctcggccca ggacgcgatt tctaacgaaa tgcaatagtt ttctcttttt ggaaaaatgt
     3541 ttataccaat agttttgtgc gctaattgtt attagaacgt ttcttatgaa tgtgtacatt
     3601 gcagtatatt cagtcccaaa tgttttgttc tcattcacac agaaggtact aatgtcagct
     3661 cacgtggcct ttaaaaacct acttccccgc ccgcaggagc tcagagcatc gctgggcctg
     3721 cgccagagtg aggggtgcag gaagacaaag acgcgtgctc actttagaaa cgaaaagctg
     3781 ggaataatca cactgtttgt ctggtcgtat agcccaaacc ttagttgaaa tcagacagaa
     3841 agaatgtctt taaaatatac atctcctctc cttggagaca ctgaagctca cagttaacgg
     3901 attgtaatgc ccggcttttc ctcactcctg gtaaccaata caagctggtt tctgcctta
//
LOCUS       NM_000636              14167 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens superoxide dismutase 2 (SOD2), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000636
VERSION     NM_000636.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 14167)
  AUTHORS   Grebowski R, Saluk J, Bijak M, Szemraj J and Wigner-Jeziorska P.
  TITLE     The role of SOD2 and NOS2 genes in the molecular aspect of bladder
            cancer pathophysiology
  JOURNAL   Sci Rep 13 (1), 14491 (2023)
   PUBMED   37660159
  REMARK    GeneRIF: The role of SOD2 and NOS2 genes in the molecular aspect of
            bladder cancer pathophysiology. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 14167)
  AUTHORS   Fallah F, Colagar AH, Saleh HA and Ranjbar M.
  TITLE     Variation of the genes encoding antioxidant enzymes SOD2 (rs4880),
            GPX1 (rs1050450), and CAT (rs1001179) and susceptibility to male
            infertility: a genetic association study and in silico analysis
  JOURNAL   Environ Sci Pollut Res Int 30 (36), 86412-86424 (2023)
   PUBMED   37405601
  REMARK    GeneRIF: Variation of the genes encoding antioxidant enzymes SOD2
            (rs4880), GPX1 (rs1050450), and CAT (rs1001179) and susceptibility
            to male infertility: a genetic association study and in silico
            analysis.
REFERENCE   3  (bases 1 to 14167)
  AUTHORS   St Clair DK and Holland JC.
  TITLE     Complementary DNA encoding human colon cancer manganese superoxide
            dismutase and the expression of its gene in human cells
  JOURNAL   Cancer Res 51 (3), 939-943 (1991)
   PUBMED   1988135
REFERENCE   4  (bases 1 to 14167)
  AUTHORS   Church SL.
  TITLE     Manganese superoxide dismutase: nucleotide and deduced amino acid
            sequence of a cDNA encoding a new human transcript
  JOURNAL   Biochim Biophys Acta 1087 (2), 250-252 (1990)
   PUBMED   1699607
  REMARK    Erratum:[Biochim Biophys Acta 1993 Jan 23;1171(3):341]
REFERENCE   5  (bases 1 to 14167)
  AUTHORS   Wispe JR, Clark JC, Burhans MS, Kropp KE, Korfhagen TR and Whitsett
            JA.
  TITLE     Synthesis and processing of the precursor for human
            mangano-superoxide dismutase
  JOURNAL   Biochim Biophys Acta 994 (1), 30-36 (1989)
   PUBMED   2462451
REFERENCE   6  (bases 1 to 14167)
  AUTHORS   Heckl K.
  TITLE     Isolation of cDNAs encoding human manganese superoxide dismutase
  JOURNAL   Nucleic Acids Res 16 (13), 6224 (1988)
   PUBMED   3399391
REFERENCE   7  (bases 1 to 14167)
  AUTHORS   Ho YS and Crapo JD.
  TITLE     Isolation and characterization of complementary DNAs encoding human
            manganese-containing superoxide dismutase
  JOURNAL   FEBS Lett 229 (2), 256-260 (1988)
   PUBMED   2831093
REFERENCE   8  (bases 1 to 14167)
  AUTHORS   Beck Y, Oren R, Amit B, Levanon A, Gorecki M and Hartman JR.
  TITLE     Human Mn superoxide dismutase cDNA sequence
  JOURNAL   Nucleic Acids Res 15 (21), 9076 (1987)
   PUBMED   3684581
REFERENCE   9  (bases 1 to 14167)
  AUTHORS   Barra,D., Schinina,M.E., Simmaco,M., Bannister,J.V., Bannister,W.H.,
            Rotilio,G. and Bossa,F.
  TITLE     The primary structure of human liver manganese superoxide dismutase
  JOURNAL   J Biol Chem 259 (20), 12595-12601 (1984)
   PUBMED   6386798
REFERENCE   10  (bases 1 to 14167)
  AUTHORS   Smith,M., Turner,B.M., Tanigaki,N. and Hirschhorn,K.
  TITLE     Regional localization of HLA, MES, and SODM on chromosome 6
  JOURNAL   Cytogenet Cell Genet 22 (1-6), 428-433 (1978)
   PUBMED   752518
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.33390.1,
            SRR1803614.215924.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000538183.7/ ENSP00000446252.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA318772.1, AK313082.1,
            X07834.1, AL135914.25 and AA126703.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000636.3.
            Summary: This gene is a member of the iron/manganese superoxide
            dismutase family. It encodes a mitochondrial protein that forms a
            homotetramer and binds one manganese ion per subunit. This protein
            binds to the superoxide byproducts of oxidative phosphorylation and
            converts them to hydrogen peroxide and diatomic oxygen. Mutations
            in this gene have been associated with idiopathic cardiomyopathy
            (IDC), premature aging, sporadic motor neuron disease, and cancer.
            Alternative splicing of this gene results in multiple transcript
            variants. A related pseudogene has been identified on chromosome 1.
            [provided by RefSeq, Apr 2016].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (A). Both variants 1 and
            2 encode the same isoform (A).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..14167
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.3"
     gene            1..14167
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
                     /note="superoxide dismutase 2"
                     /db_xref="GeneID:6648"
                     /db_xref="HGNC:HGNC:11180"
                     /db_xref="MIM:147460"
     CDS             75..743
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
                     /EC_number="1.15.1.1"
                     /note="isoform A precursor is encoded by transcript variant
                     1; mangano-superoxide dismutase; Mn superoxide dismutase;
                     indophenoloxidase B; manganese-containing superoxide
                     dismutase; superoxide dismutase 2, mitochondrial;
                     epididymis secretory sperm binding protein; gastric
                     cancer-associated lncRNA 1"
                     /codon_start=1
                     /product="superoxide dismutase [Mn], mitochondrial isoform
                     A precursor"
                     /protein_id="NP_000627.2"
                     /db_xref="CCDS:CCDS5265.1"
                     /db_xref="GeneID:6648"
                     /db_xref="HGNC:HGNC:11180"
                     /db_xref="MIM:147460"
                     /translation="MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGALEPHINAQ
                     IMQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTAQIALQPALKFNGGGHINHSIFWTN
                     LSPNGGGEPKGELLEAIKRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQIAA
                     CPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPDYLKAIWNVINWENVTERYMACKK
                     "
     transit_peptide 75..146
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
                     /note="Mitochondrion. /evidence=ECO:0000269|PubMed:6386798,
                     ECO:0000269|PubMed:7498159, ECO:0000269|PubMed:7895732,
                     ECO:0000269|PubMed:9150946; propagated from
                     UniProtKB/Swiss-Prot (P04179.3)"
     mat_peptide     147..740
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
                     /product="Superoxide dismutase [Mn], mitochondrial.
                     /id=PRO_0000032869"
                     /note="propagated from UniProtKB/Swiss-Prot (P04179.3)"
     misc_feature    276..278
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P04179.3); acetylation site"
     misc_feature    297..299
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P09671; propagated from
                     UniProtKB/Swiss-Prot (P04179.3); acetylation site"
     misc_feature    414..416
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P09671; propagated from
                     UniProtKB/Swiss-Prot (P04179.3); acetylation site"
     misc_feature    438..440
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P09671; propagated from
                     UniProtKB/Swiss-Prot (P04179.3); acetylation site"
     misc_feature    462..464
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P04179.3); acetylation site"
     misc_feature    678..680
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P09671; propagated from
                     UniProtKB/Swiss-Prot (P04179.3); acetylation site"
     regulatory      739..744
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
                     /note="hexamer: AGTAAA"
     polyA_site      765
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
                     /note="major polyA site"
     regulatory      936..941
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
                     /note="hexamer: AGTAAA"
     polyA_site      958
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
                     /note="major polyA site"
     regulatory      3670..3675
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
                     /note="hexamer: ATTAAA"
     polyA_site      3697
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
     polyA_site      4172
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
     regulatory      14149..14154
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
                     /note="hexamer: AATAAA"
     polyA_site      14167
                     /gene="SOD2"
                     /gene_synonym="GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD;
                     MVCD6"
ORIGIN
        1 actcgtggct gtggtggctt cggcagcggc ttcagcagat cggcggcatc agcggtagca
       61 ccagcactag cagcatgttg agccgggcag tgtgcggcac cagcaggcag ctggctccgg
      121 ttttggggta tctgggctcc aggcagaagc acagcctccc cgacctgccc tacgactacg
      181 gcgccctgga acctcacatc aacgcgcaga tcatgcagct gcaccacagc aagcaccacg
      241 cggcctacgt gaacaacctg aacgtcaccg aggagaagta ccaggaggcg ttggccaagg
      301 gagatgttac agcccagata gctcttcagc ctgcactgaa gttcaatggt ggtggtcata
      361 tcaatcatag cattttctgg acaaacctca gccctaacgg tggtggagaa cccaaagggg
      421 agttgctgga agccatcaaa cgtgactttg gttcctttga caagtttaag gagaagctga
      481 cggctgcatc tgttggtgtc caaggctcag gttggggttg gcttggtttc aataaggaac
      541 ggggacactt acaaattgct gcttgtccaa atcaggatcc actgcaagga acaacaggcc
      601 ttattccact gctggggatt gatgtgtggg agcacgctta ctaccttcag tataaaaatg
      661 tcaggcctga ttatctaaaa gctatttgga atgtaatcaa ctgggagaat gtaactgaaa
      721 gatacatggc ttgcaaaaag taaaccacga tcgttatgct gagtatgtta agctctttat
      781 gactgttttt gtagtggtat agagtactgc agaatacagt aagctgctct attgtagcat
      841 ttcttgatgt tgcttagtca cttatttcat aaacaactta atgttctgaa taatttctta
      901 ctaaacattt tgttattggg caagtgattg aaaatagtaa atgctttgtg tgattgaatc
      961 tgattggaca ttttcttcag agagctaaat tacaattgtc atttataaaa ccatcaaaaa
     1021 tattccatcc atatactttg gggacttgta gggatgcctt tctagtccta ttctattgca
     1081 gttatagaaa atctagtctt ttgccccagt tacttaaaaa taaaatatta acactttccc
     1141 aagggaaaca ctcggctttc tatagaaaat tgcacttttt gtcgagtaat cctctgcagt
     1201 gatacttctg gtagatgtca cccagtggtt tttgttaggt caaatgttcc tgtatagttt
     1261 ttgcaaatag agctgtatac tgtttaaatg tagcaggtga actgaactgg ggtttgctca
     1321 cctgcacagt aaaggcaaac ttcaacagca aaactgcaaa aaggtggttt ttgcagtagg
     1381 agaaaggagg atgtttattt gcagggcgcc aagcaaggag aattgggcag ctcatgcttg
     1441 agacccaatc tccatgatga cctacaagct agagtattta aaggcagtgg taaatttcag
     1501 gaaagcagaa gttaaaggca aaattgtaaa tcagtcgaga tcgggtgcct tcagggtggt
     1561 atggctgtat accaaaattg taaatcacta catgaagctt atatattggt ttggcctgaa
     1621 aggtgaagtg gggtaggcag ggggcgggct tacaggttat ggtggattca aagactccct
     1681 gatttgtgat tggttaagga agcaaagctt tgtctaaaaa cttggggtcc gcagaaagga
     1741 acattaaggt ctggccaggc ccctcaggaa gaaactgaga gcaaagaatg gaggtcagag
     1801 tttagtccct ggtgttcccc cttatctgac gtctgtgtga atccatttgg tgggggtctg
     1861 ggtttctgaa aagtagctca ggggcacgtg ttaaggatgt ctctaggtga ctctaacttc
     1921 cctggctatt gtttgaaact gttatgacct tcttgcttat cagcttgctg gtttccttct
     1981 cggggcgagc tgggtgcctg gagttttcgg tgaaggaaac tcaagattct cctttatttc
     2041 tgtgcttgtg ggaatccccc tggcacaccc caaagagggg tccctgctcc gtctcacagg
     2101 gatctttttg tatatttggc ttagcatcat acatttgcca tgttgtttca tcatctgcct
     2161 aatttactgt ttttgaatat ttcatttgtt tctaattgtt actacagata atgctggggt
     2221 gagcaactct gtgtacatag gtttatctcc tattggaata ttttctttat ataggcgttt
     2281 tttttttttc tttttttttg gagacagagt cttgctctgt tgcccaggct ggagtgcagt
     2341 ggcgcgaccg gagctcactg caacctccac ttcccgggtt caagtgattg tcccacctca
     2401 gcctcctgaa tagctgggat tacaggtgca tgctaccatg cctggctact ttttgtattt
     2461 ttagcagaga cagggtttca ccatgttggc cagggtggtc tcgaactcct gacctcaagt
     2521 gatccgtctg gctcagcctc ccaaagtgct gggattacag gtgtgagcca ctgcacctgg
     2581 cctatatagg cttttttctt aaacctattt agtaatgttt tcccaagttt attttttatt
     2641 tttaattttt tccccaagtt tatttttcta tttttttttc atggaaaaat ggggtaactt
     2701 agcagtttca atattgaaga ctgaagttta aaaaaaattt aaattcaagg tacttttaaa
     2761 attcagttag aaaagtaggc tttaaaaatt attagagaca agagtaccaa agcggtgtgt
     2821 gtatgtgtgt gtgtgtatgc atgcttgtgg attggaaaaa ctttggagac tgattacttt
     2881 tcattatata tgtgtcacag tgaaacagct tttatgtgtc atgtaagatt actgcttgcc
     2941 tctctaagga aggtcgtgac tgtttaaata gacgggcaag gtggaacctt ttgaaagatg
     3001 agcttttgaa tataagttgt ctgctagatc atggtttgta ttgaactaac aaggtttgca
     3061 gatctgctga cttatataaa gctttttgat tcctactaag ctttaagatt taaaaaatgt
     3121 tcaatgttga aatttctgtg gggctctatt tttgctttgg ctttctggtg agagagtgag
     3181 gaagcattct ttccttcact aagtttgtct ttcttgtctt ctggatagat tgattttaag
     3241 agactaaggg aatttacaaa ctaaagattt tagtcatctg gtggaaaagg agactttaag
     3301 attgtttagg gctgggcggg gtgactcaca tctgtaatcc cagcactttg ggaggccaag
     3361 gcaggcagaa cacttgaagg agttcaagac cagcgtggcc aacgtggtga aaccctgtct
     3421 ctactaaaaa tacaaaaatt gtttagctct gtttttcata atagaaatag aaaaggtaaa
     3481 attgcttttc ttctgaaaag aacaagtatt gttcatccaa gaagggtttt tgtgactgaa
     3541 tcagcagtgc ctgccctagt catagctgtg cttcaaaaac ctcagcatga ttagtgttgg
     3601 agcaaaacaa ggaagcaaag caaatactgt ttttgaaatt ctatctgttg cttgaactat
     3661 tttgtaataa ttaaactttg atgttgagaa atcacaactt tattgtacac ttcattgcaa
     3721 cttgaaattc atggtcttaa agtgagattt gaatttctat tgagcgcctt taaaaaagta
     3781 ataccaaacc ataaagttaa aatctatgta tattgagtca tatctaaaac cacgtataaa
     3841 cataaattgt atttcctgtt ttaattccag gggaagtact gtttgggaaa gctattatta
     3901 ggtaaatgtt ttacaaatta ctgtttctca ctttcagtca taccctaatg atcccagcaa
     3961 gataatgtcc tgtcttctaa gatgtgcatc aagcctggta catactgaaa accctataag
     4021 gtcctggata atttttgttt gattattcat tgaagaaaca tttattttcc aattgtgtga
     4081 agtttttgac tgttaataaa agaatctgtc aaccatcaaa gaggtctgca ttatgcttgc
     4141 atgtcaaaaa ctttaaaaat cctataatct tctgtcattt tcactgagtt tccatgggaa
     4201 aggaatagta aataatgggt agttgaaata ttactcttaa gaccaagacc tgtatctcca
     4261 gtcatatctg taataacatc atctgataac ctaaaagcat agtattaggg atatacgaca
     4321 aaaccaaagt gtttttgctg ttgtcacata ccactcaata cttttacacc aggttgtcca
     4381 gtggacacca gctggatgtc ctataattca attctgacac tgtctacctg gaattggagt
     4441 cagatcccac aggtggaggg ctcagcccac aagactgccc ccactccaga taccaatcgc
     4501 aagtccctat acttctgact ggctataaag tggggttccc gtgacccttt ccttggtttt
     4561 gatttatttg ctagagcagc tcccagaaca cagagaaaca ctctacttat gtttacccat
     4621 ttttaatttt attactttat taaaactaca tattggttac aatactaatt tattgtaaag
     4681 gatatttcat ttatttattt ttttatttag agatggagtc tcactgtgtc acccaggctg
     4741 gagtgcggtg gcacagtctc aactcactgc aacctccacc tcctgagttc aagcgattct
     4801 catgcctcag cctcccaagt agctgggatt acaagtgtgc accaccatgc ccagctaatt
     4861 tttgtatttt tagtagagat ggggtttcac tctgttggcc aggctggtct caaactcctg
     4921 acctcaagtc atccacccac ctcagcctcc caaagtgctg agattacagg tgtgagccat
     4981 tgcctctggc ttgtaaagga tatttcaaag aatacagatg aacagccaga tggaagagat
     5041 gcacagggca aggcatgtgg gaaggggtat ggagctttca tgctctctcc acgtcatcag
     5101 ctacccagaa gctcatctgg accccgaccc tttggggttt tacggaggct tcattatgtc
     5161 agcattacca ttggcaattg gcgattaact caaccttcag cctctctccc ctttctggag
     5221 gttgggggtt gaggctggga gtccaaaccc tccaatcttg ccttggtctt tctggtaagc
     5281 agccccccgt cctgaagcta cctagaggct cccagccacc aatcatttca ttggcaaacc
     5341 aaagatactt caaggggttt aggagccaag agaccaagca aggattgaga caatatatat
     5401 atttcttata aataacatga tcacaaatag tattttatat atttctcata atagctggtt
     5461 gtggttactc acacctatca tcccagctac taagaagcta aggcaggagg atcacaggcc
     5521 caggagtttg cagctgtagt gagctatgat tgtgctactg cactccagcc tgggtgacag
     5581 tgtgagaccc tgtctcttaa agttcttgta acatcttaga acattaacca accacagatt
     5641 attgccttaa ctctgaaaaa taaagtaatc atacttttac aagatgtatt ttacataaag
     5701 ttctggtgat attttactct ggtcattgga atataggagc ttaccacctg gtaccactct
     5761 tcctaaagtg gtatactatt tggtatagta ctggcatact atttggaaag ggatgtgaag
     5821 ttggcatgac ctgtctaggg tgaagtcatg ctgtctgcta ttcattgtgg gctttacagt
     5881 aatgagagtg cttctgttgt caagatgctt ctgggacacg ttaaaaaaaa tttaagattt
     5941 ctcagtttgt gaaaaggaag gagcacgaat gctttcaagt tcctatgaca tgctagtcat
     6001 ctttcagtgt gtcccattgt tgcacccagt agtctcgatg cccagcgtca cggtgattcc
     6061 aagtttgcct ctctgcccac tataatttgt gctccatgaa gtcccaggac atgaggttct
     6121 tgttcatttg tgcgtctggg cccatatcca aatattaaac aatgtgactt aatgtattta
     6181 tcatattgta aatatgggta tccccaaggc tcagaagtta acacagcata tccacagaga
     6241 ggtttgacag catggctgtg gtgactggga aggccttatg cttgctcctc cttctgctgc
     6301 ttgcctttgt gtgggcatgg aaagaacatt gaattaggta ctggaagacc tgggtcctgg
     6361 tcttggagat tttaccagag cacctgtggg atattggtca agatgcctgg ttttagtcct
     6421 gctcctttgc tgtgaaagag gatcttaagg tgccaactct ggcattttat tttttactta
     6481 tttattttta aattatactt taagttctag ggtacatgtg tacaacatgc aggtttgtta
     6541 catgtataca tgtgccatgt tggtgtgctg cacctattaa ctcgtcattt acattaggta
     6601 tatctcctaa tgctatccct cccccttctc cccacccctc gacaggcccc ggtgtgtgat
     6661 gttccccttc ctgtgtccaa gtgttctcat tgttcaattc ccatctatga gtgagaacat
     6721 gcggtgtttg tttttttgtc cttggaatag tttgctgaga aggatggttt ccagcttcat
     6781 ccatgtccct ataaaggaca tgaactcttc cttttttatg gctgcatagt attccatggt
     6841 gtatatgtgc cacatcttct taaaccaatc tatcattgat ggacatttgg gttggttcca
     6901 agtctttgct attgtgaaca gtgccacaat aaatatacgt gtgcatgtgt ctttatagca
     6961 gcatgattta taatcctttg ggtatatacc cagtaatggg atggctgggt caaatggtat
     7021 ttctagttct agatccctga ggaatcgcca cactgtcttc cacaatggtt gaactagttt
     7081 acagtcccac caccagtgta aaagtgttcc tatttctcca catcctctcc agcacctgtt
     7141 gtttcctgac tttttaatga ttgacattct aactggtgtg agatggtatc tcattgtggt
     7201 tttgatttgc atttctctga tggcccatga tgatgagcat ttttttcatg tgtctgttgg
     7261 atgcatggat gtcttctttt gagaagtgtc tcttcatatc cttcacctac tttttgatgg
     7321 ggtttgtttt tttcttgtaa gtttgtttga gttccttgta gattctggat attagccctt
     7381 tgtcagatga gtagattgca aaaattttct cccattttgt aggttgcctg ttcactctga
     7441 tggtagtttc ttttgctgtg cagaagctct tgagtttaat gagatcccat ttgtcaattt
     7501 tggcttctgt tgccattgct tttggtgttt tagacatgaa gtccttgccc atgcctgtgt
     7561 cctgaatggt actgcatagg ttttcttcta gggtttttat ggttttaggt ctaacattta
     7621 agtctttaat ccatcttgaa ttaatttttg tataaggtgt aaggaaggga tccagtttca
     7681 gctttctaca tgtggctagc cagttttccc agcaccattt attaaatagg gaatcctttc
     7741 cccatttctt gtttttgtca ggtttctcaa agatcagata gttgtagatg tgtggtatta
     7801 tttctgaggg ctctgttctg ttccattggt ctatatctct gttttggtac tagtaccatg
     7861 ctgttttggt tactgcagcc ttgtagtata gtttgaaatc aggtagcgtg atgcctccag
     7921 ctttgttctt ttggcttagg atcgttttgg cagtgcaggc tcttttttgg ttccacatga
     7981 actttaaagt agttttttcc aattctatga agaaagtcat gggtagcttg atggggatgg
     8041 cattgaatct ataaattacc ttgggcagta tagccatttt cacgatattg attcttccta
     8101 tccatgagca tggaatgttc ttccatttgt ttgtgtcctc ttttatttcc ttgagcagtg
     8161 gtttgtagtt ctccttgaag aggtccttca catcccttgt aagttggatt cctaggtatt
     8221 ttattctctt tgaggcagtt gtgaatggga gttcactcat gatttggctc tctgtttgtc
     8281 tgttgttggt gtataagaat gcttgtgatt tttgcacatt gattttgtat cctgagattt
     8341 tgctgaagtt gcttatcaaa ttaaggagat tttgggctga gatgatgggg ttttctaaat
     8401 ataaaatcat gtcatctgca aacagggaca atttgacttc ctcttttcct tattgaatac
     8461 cctttatttc tttctcctgc ctgatggccc tggccagaac ttccaacact atgttgaata
     8521 ggagtggtga gagagggcat ccctgtcttg tgccagtttt caaagggaat gcttccagtt
     8581 tttgcccatt cagtctgata ttggctgtgg gtttgtcata gatagctctt attattttga
     8641 gatatgtccc atcaatacct aattcattga gagtttttag catgaagggc tgttgaattt
     8701 tgtccaaggc cttttctgca tctgttgaga taatcatgtg gtttttgtct ttggttctgt
     8761 ttatatgctg gattactttt attgatttgt gtatgttgaa ccagccttgc atcccaggga
     8821 tgaagcccac ttgatcatgg tggataagct ttttgatatg ctgctggatt cagtttgcca
     8881 gtattttatt gaggattttt gcattgattt tcatcaggga tattggtcta aagttctctt
     8941 tttttgttat gtctctgcca ggctttggta tcaggatgat gctggcttca taaaatgagt
     9001 tagggaggat tccctctttt tctattgatt ggaatagttt cagaaggaat ggtaccagct
     9061 cttccttgta cctctggtag aattcggctg tgaatccatc ttgtcctgga ctttttttgg
     9121 ttggtaggct attaattatt gcctcaattt cagagcctgt tattggtcta ttcagggatt
     9181 aaacttcttc ctggtttagt tttgagaggg tgtatgtgtc caggaattta tctatttctt
     9241 ctagattttc tagtttattt gcatagaggt gtttatagta ttctctgtgt actctgtatt
     9301 tctgtgggat tggtggtgat atccacttta tcatttttta ttgcatttat ttgattcttc
     9361 tctcttttct tgtttattag tcttgctagc ggtctatcaa ttgtgtttat cttttcaaaa
     9421 aaccagctcc tggattcatt cattttttga aggttttttt gtgtctctgt ctccttcagt
     9481 tctgctctga tcttagttat ttcttgtctt ctgctagctg ttgaatgtgt ttgctcttgc
     9541 ttctctaata tttttaattg tgatgttaga gtgtcaattt tagatctttc ctgctttctc
     9601 ttgtgggcac ttagtgctgt aaatttccct ctacacactg ctttaaatgt gtcccagaga
     9661 ttctggtatg ttgtgtcttt gttctcgttg gtttcaaaga acatctttat ttctgccttc
     9721 attttgttat gtacccagta gtcattcagg agcaggttgt tcagtttcca tgtagctgag
     9781 tggttttgag tgagtttctt aatcctgagt tctagtttga ttgcactgtg gtctgagaca
     9841 gtatgttata atttctgttc ttttacattt gctgaggagt gctttacttc caactatgtg
     9901 gtcaattttg gaataggtgc gatgtggtgc tgagaagaat gtatattctg ttgatttggg
     9961 gtggagagtt ctgtagatgt ctattaggtc tgcttggtgc agagctgaat tcaattcctg
    10021 gatatccttg ttaactttct gtctcgttga tctgtctaat attgacagtg gggtgttaga
    10081 gtctcccatt gttattgtgt gggagtctaa atctctttgt aggtctctaa ggacttggtt
    10141 tatgaatctg ggtgctcctg tattgggtgc atatatattt aagatagtta gctcttcttg
    10201 ttgaattgat ccctttacta tcatgtaatg gccttctttg tctcttttga tctttgttgg
    10261 tttaaagtct gttttatcag agactaggat tgcaaccccg gccttttttt ttgttttccg
    10321 tttgcttggt agatcttcct ccatcctttt attttgagcc tatgtgtgtg tgtctctgta
    10381 cgtgagatgg gtttcctgaa tacagcaccc tgatgggtct tgactcttta tccagtgtgc
    10441 cagtctgtgt cttttaattg gagcatttag cccatttaca tttaaggtta atattgttat
    10501 gtgtgaattt gatcctgtca ctaggatgtt cactggttat tttgctcgtt agttgatgca
    10561 gtttcttcct agcctcaatg gtctttacaa tttggcatgt ttttgcagtg gctgatactg
    10621 gttgttccat tccatgttta gtgcttcctt caggagctct tgtaaggcag gcctggtggt
    10681 gacaaaatct ctcagcattt gcttgtttgt aaaggatttt atttctcctt cacttatgaa
    10741 gcttagtttg gctggatatg aaattctggg ttgaaaattc ttttcttcaa gaacgttgaa
    10801 tattgacccc cactctcttc tggcttgtag agtttctgct gagagatcag ctgttagtct
    10861 gatgggcttc cctttgtggg taacccgacc tttctctctg gctgccctta acattttttc
    10921 cttcatttca actttggtga atctgacaat tatgtgtctt ggagttgctc ttctcgagga
    10981 gtatctttgt ggcgttctct gtatttcctg aatttgaatg ttgtcctccc ttgctagatt
    11041 ggggaagttc tcctggataa tatcctgcag agtgttttcc agcttggttc cattctcccc
    11101 gtcactttca ggtacaccaa tcagacgtag atttggtctt ttcacatagt cccatatttc
    11161 ttggaagctt tgttcgtttc tttttactct tttttctctt aacttctctt ctcacttcat
    11221 ttcattcatc tgatcttcaa tcactgataa cctttcttcc agttgatcga attggctact
    11281 gaagcttgtg cattcgtcac gtagttctca tgccatggtt ttcagctcca tcaggtcatt
    11341 taaggacttc tctatgctgg ttattctagt tagccatttg tctaatcttt tttcaaggtt
    11401 tttaggttct ttgtgatggg ttcgaacttc ctcttttagc ttggagaagt ttgatcatct
    11461 gaagccttct tctctcaact cgtcaaagtc attctccgtc cagctttgtt ctgttgctgg
    11521 caaggagcta tgttcctttg gagggggaga ggcgctctga tttttagaat tttcagcttt
    11581 tctgctctgt tttttcccca tctttgtggt tttatctacc tttggtcttt ggtgatggtg
    11641 atgtgcagat ggggttttgg tgtggatgtc ctttctgttt gttagttttc cttctaacag
    11701 tcaggaccgc cagctgcagg tctgttggag tttgctggac gtccacgcca gaccctgttt
    11761 gcctgggtat cacagtggag gctgtagaac agcgaatatt gctgaacagc aaatgttgct
    11821 gcctgatcat tcctctggaa gcttcatctc agaggggtac ccggccatgt ggggtgtcag
    11881 tctgccccta cttgggggtg cctcccagtt aggctactcg ggggtcaggg actcacttga
    11941 ggaggcagtc tctccgttct cagatctcaa actctgtgct gggagaacca ctggtctctt
    12001 caaagctgtc agacagggac attgaagtct gcagagattt ctgctgcctt ttgttcggct
    12061 atgccatgcc cccagaggtg gagtctacag aggcaggcag gcaggcctcc ttgagctgca
    12121 gtgggctcca cctagttcga gcttcccggc tgctttattt acctactgaa gcctcagcaa
    12181 tggtgggctc ccctccccta gcctcactgc caccttgcag ttcgatctca gactgctgtg
    12241 ctagcaatga gcaaggctcc atgggcgtgg gaccctccga gctaggcaca ggatataatc
    12301 tcctggtgtg ccgtttgcta agaccattgg aaaaacgcag tattagggtg ggagtgaccc
    12361 aattttccag gtgccgtctg tcacagcttc ccttggctag gaaagggaat tccctgaccc
    12421 cttgccttcc cgggtgaggc catgccttgc cctgcttcag ctcatgctca gtgggctgca
    12481 cccaccgtcc tacacccact gtccaacaag ccccagtgag atgaacctgg tacctcagtt
    12541 ggaagtgcag aaatcacctg tcttctgcgt cgctcacgct gggagctgta gactggagct
    12601 gttcctattc ggccatcttg gaacccaacc caagtctggc attttttggt tttctctgtg
    12661 tattgactat gattatagag gataaatgga tattgatatt attaaatcgt catttacaga
    12721 aggcacacaa cttatatcct ttaaacaaag ttctccaacc agtagggtat acttgctggt
    12781 agtgcttaca gctgccacca ttcttcactg gggctcagag tggatgcctg gaggaaaaaa
    12841 acaaatgaat cttttagctc ctagttactg ttagcatttt taccagaaaa caatttaaaa
    12901 aatgacacaa gtaagtcttc acctatcaag gctgagtgtg gtggcctata cttgtaatct
    12961 ctgtgctttg ggaggccaac gcaggaggat ctcttgagtc caggagtttg agaccagcct
    13021 gggcaacaaa gcaagacccc atctctacag aaagttaaaa tttagctggg catgctggca
    13081 catccctata gtcccagcta cttgagaggc tgagttggga ggatcccttg aggtcatgag
    13141 ttggagtcta cagtgagctg tgattacagt gtgagtctac actgcactcc agtctgggtg
    13201 aaagagatcc tgtctctcaa aaaacaagtg attctcctgg gaagagattt gtttaaaaag
    13261 tctgcacctc tattgatgat aactttgaat gtaaatggat taaattctcc cacttaaaag
    13321 atatagattg actgaatgga ttaaaaacca ccatcatgac tcgactgtat gctgcctaca
    13381 agaaacctca cctgtaaaga caggccaaaa gtgaaggtat ggagaaagat attgcataca
    13441 aatggaagcc aaaaaagagc agaaataact atacttacat gagataaaat agactttaag
    13501 tcaaaaactg taaaaagaaa agtcattatg taatgaaaca aggatcaatt catgcaagat
    13561 ataatcatat ttttttatta agaaaatttt tttgtagaga tggggttatg ctatgttgcc
    13621 tggctagtct caaactctgg gtctcaaagc agtcctcctg ctttggcctc ctaaggtgct
    13681 gggattatag gcatgagcca ctgtgccagg cctgaggata ttatcattat aaatatatat
    13741 gtaccccaca ctggatgacc cagatataaa gcaaatatta ttagatttaa agggagaaat
    13801 agactctaat acaatagtag ttgaggactt cactctactc tcagcattgg acagattttc
    13861 tagacataaa accaataaat attggattta aattgcactt tacaccaaat ggacctgaca
    13921 tttacagaac attctaatag gtgcagaaca ctctaatagc tgcagaacac acgttctttt
    13981 catcagcaca tggaacattc accagactag ttctggaacc cacttcctgc cttagtgttc
    14041 tttccaccac agtgcatgat aattccgaca gaacgccttt tatttgtacc ttattagttg
    14101 tagggggaaa gctttttcat gtacaaaaat gctgtaattt tctgatttaa taaagtaatt
    14161 ccactga
//
LOCUS       NM_000637               3034 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens glutathione-disulfide reductase (GSR), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000637
VERSION     NM_000637.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3034)
  AUTHORS   Vyas B, Bhowmik R, Akhter M and Ahmad FJ.
  TITLE     Identification, analysis of deleterious SNPs of the human GSR gene
            and their effects on the structure and functions of associated
            proteins and other diseases
  JOURNAL   Sci Rep 12 (1), 5474 (2022)
   PUBMED   35361806
  REMARK    GeneRIF: Identification, analysis of deleterious SNPs of the human
            GSR gene and their effects on the structure and functions of
            associated proteins and other diseases. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 3034)
  AUTHORS   Zhang C and Zhao D.
  TITLE     MicroRNA-362-5p promotes the proliferation and inhibits apoptosis of
            trophoblast cells via targeting glutathione-disulfide reductase
  JOURNAL   Bioengineered 12 (1), 2410-2419 (2021)
   PUBMED   34107852
  REMARK    GeneRIF: MicroRNA-362-5p promotes the proliferation and inhibits
            apoptosis of trophoblast cells via targeting glutathione-disulfide
            reductase.
REFERENCE   3  (bases 1 to 3034)
  AUTHORS   Lorestani S, Bahari A, Asadi M and Zahedi Avval F.
  TITLE     Evaluation of glutathione reductase activity in colon tissue of
            patients with irritable bowel syndrome
  JOURNAL   Horm Mol Biol Clin Investig 42 (2), 195-198 (2021)
   PUBMED   34090318
  REMARK    GeneRIF: Evaluation of glutathione reductase activity in colon
            tissue of patients with irritable bowel syndrome. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 3034)
  AUTHORS   Wang YN, Lu YX, Liu J, Jin Y, Bi HC, Zhao Q, Liu ZX, Li YQ, Hu JJ,
            Sheng H, Jiang YM, Zhang C, Tian F, Chen Y, Pan ZZ, Chen G, Zeng ZL,
            Liu KY, Ogasawara M, Yun JP, Ju HQ, Feng JX, Xie D, Gao S, Jia WH,
            Kopetz S, Xu RH and Wang F.
  TITLE     AMPKalpha1 confers survival advantage of colorectal cancer cells
            under metabolic stress by promoting redox balance through the
            regulation of glutathione reductase phosphorylation
  JOURNAL   Oncogene 39 (3), 637-650 (2020)
   PUBMED   31530934
  REMARK    GeneRIF: AMPKalpha1 is overexpressed in colorectal cancer (CRC)
            patient specimens and the high expression is correlated with poor
            survival. AMPKalpha1 maintains high level of reduced glutathione to
            keep redox homeostasis under stress conditions, thus promoting CRC
            cell survival. Mechanistically, AMPKalpha1 regulate the glutathione
            reductase (GSR) phosphorylation possibly through residue Thr507
            which enhances its activity.
REFERENCE   5  (bases 1 to 3034)
  AUTHORS   Zhu Z, Du S, Du Y, Ren J, Ying G and Yan Z.
  TITLE     Glutathione reductase mediates drug resistance in glioblastoma cells
            by regulating redox homeostasis
  JOURNAL   J Neurochem 144 (1), 93-104 (2018)
   PUBMED   29105080
  REMARK    GeneRIF: GSR expression was higher in TMZ-resistant cells than in
            sensitive cells. GSR silencing in drug-resistant cells improved the
            sensitivity of cells to TMZ or cisplatin. Over-expression resulted
            in resistance. GSR partially prevented the oxidative stress caused
            by L-buthionine -sulfoximine. The action of GSR in drug resistance
            is associated with the modulation of redox homeostasis. High GSR
            correlated with lower survival.
REFERENCE   6  (bases 1 to 3034)
  AUTHORS   Kelner MJ and Montoya MA.
  TITLE     Structural organization of the human glutathione reductase gene:
            determination of correct cDNA sequence and identification of a
            mitochondrial leader sequence
  JOURNAL   Biochem Biophys Res Commun 269 (2), 366-368 (2000)
   PUBMED   10708558
REFERENCE   7  (bases 1 to 3034)
  AUTHORS   Tutic M, Lu XA, Schirmer RH and Werner D.
  TITLE     Cloning and sequencing of mammalian glutathione reductase cDNA
  JOURNAL   Eur J Biochem 188 (3), 523-528 (1990)
   PUBMED   2185014
REFERENCE   8  (bases 1 to 3034)
  AUTHORS   Krohne-Ehrich,G., Schirmer,R.H. and Untucht-Grau,R.
  TITLE     Glutathione reductase from human erythrocytes. Isolation of the
            enzyme and sequence analysis of the redox-active peptide
  JOURNAL   Eur J Biochem 80 (1), 65-71 (1977)
   PUBMED   923580
REFERENCE   9  (bases 1 to 3034)
  AUTHORS   Sinet,P.M., Bresson,J.L., Couturier,J., Laurent,C., Prieur,M.,
            Rethore,M.O., Taillemite,J.L., Toudic,D., Jerome,H. and Lejeune,J.
  TITLE     [Possible localization of the glutathione reductase (EC 1.6.4.2) on
            the 8p21 band]
  JOURNAL   Ann Genet 20 (1), 13-17 (1977)
   PUBMED   302667
REFERENCE   10  (bases 1 to 3034)
  AUTHORS   Loos,H., Roos,D., Weening,R. and Houwerzijl,J.
  TITLE     Familial deficiency of glutathione reductase in human blood cells
  JOURNAL   Blood 48 (1), 53-62 (1976)
   PUBMED   947404
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC035691.1, FJ224321.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 10708558; reported by
            MitoCarta
            MANE Ensembl match :: ENST00000221130.11/ ENSP00000221130.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC069244.1, AC103959.18 and
            CA944703.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000637.4.
            Summary: This gene encodes a member of the class-I pyridine
            nucleotide-disulfide oxidoreductase family. This enzyme is a
            homodimeric flavoprotein. It is a central enzyme of cellular
            antioxidant defense, and reduces oxidized glutathione disulfide
            (GSSG) to the sulfhydryl form GSH, which is an important cellular
            antioxidant. Rare mutations in this gene result in hereditary
            glutathione reductase deficiency. Multiple alternatively spliced
            transcript variants encoding different isoforms have been found.
            [provided by RefSeq, Aug 2010].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3034
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p12"
     gene            1..3034
                     /gene="GSR"
                     /gene_synonym="GR; GSRD; HEL-75; HEL-S-122m"
                     /note="glutathione-disulfide reductase"
                     /db_xref="GeneID:2936"
                     /db_xref="HGNC:HGNC:4623"
                     /db_xref="MIM:138300"
     CDS             12..1580
                     /gene="GSR"
                     /gene_synonym="GR; GSRD; HEL-75; HEL-S-122m"
                     /EC_number="1.8.1.7"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; glutathione reductase, mitochondrial; glutathione
                     S-reductase; epididymis luminal protein 75; GRase;
                     epididymis secretory sperm binding protein Li 122m"
                     /codon_start=1
                     /product="glutathione reductase, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_000628.2"
                     /db_xref="CCDS:CCDS34877.1"
                     /db_xref="GeneID:2936"
                     /db_xref="HGNC:HGNC:4623"
                     /db_xref="MIM:138300"
                     /translation="MALLPRALSAGAGPSWRRAARAFRGFLLLLPEPAALTRALSRAMA
                     CRQEPQPQGPPPAAGAVASYDYLVIGGGSGGLASARRAAELGARAAVVESHKLGGTCVN
                     VGCVPKKVMWNTAVHSEFMHDHADYGFPSCEGKFNWRVIKEKRDAYVSRLNAIYQNNLT
                     KSHIEIIRGHAAFTSDPKPTIEVSGKKYTAPHILIATGGMPSTPHESQIPGASLGITSD
                     GFFQLEELPGRSVIVGAGYIAVEMAGILSALGSKTSLMIRHDKVLRSFDSMISTNCTEE
                     LENAGVEVLKFSQVKEVKKTLSGLEVSMVTAVPGRLPVMTMIPDVDCLLWAIGRVPNTK
                     DLSLNKLGIQTDDKGHIIVDEFQNTNVKGIYAVGDVCGKALLTPVAIAAGRKLAHRLFE
                     YKEDSKLDYNNIPTVVFSHPPIGTVGLTEDEAIHKYGIENVKTYSTSFTPMYHAVTKRK
                     TKCVMKMVCANKEEKVVGIHMQGLGCDEMLQGFAVAVKMGATKADFDNTVAIHPTSSEE
                     LVTLR"
     transit_peptide 12..140
                     /gene="GSR"
                     /gene_synonym="GR; GSRD; HEL-75; HEL-S-122m"
                     /note="Mitochondrion. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P00390.2)"
     mat_peptide     141..1577
                     /gene="GSR"
                     /gene_synonym="GR; GSRD; HEL-75; HEL-S-122m"
                     /product="Glutathione reductase, mitochondrial.
                     /id=PRO_0000030276"
                     /note="propagated from UniProtKB/Swiss-Prot (P00390.2)"
     misc_feature    300..302
                     /gene="GSR"
                     /gene_synonym="GR; GSRD; HEL-75; HEL-S-122m"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P47791; propagated from
                     UniProtKB/Swiss-Prot (P00390.2); acetylation site"
     regulatory      3009..3014
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSR"
                     /gene_synonym="GR; GSRD; HEL-75; HEL-S-122m"
                     /note="hexamer: AATAAA"
     polyA_site      3034
                     /gene="GSR"
                     /gene_synonym="GR; GSRD; HEL-75; HEL-S-122m"
                     /note="major polyA site"
ORIGIN
        1 cttccgcgtg catggccctg ctgccccgag ccctgagcgc cggcgcggga ccgagctggc
       61 ggcgggcggc gcgcgccttc cgaggcttcc tgctgcttct gcccgagccc gcggccctca
      121 cgcgcgccct ctcccgtgcc atggcctgca ggcaggagcc gcagccgcag ggcccgccgc
      181 ccgctgctgg cgccgtggcc tcctatgact acctggtgat cgggggcggc tcgggcgggc
      241 tggccagcgc gcgcagggcg gccgagctgg gtgccagggc cgccgtggtg gagagccaca
      301 agctgggtgg cacttgcgtg aatgttggat gtgtacccaa aaaggtaatg tggaacacag
      361 ctgtccactc tgaattcatg catgatcatg ctgattatgg ctttccaagt tgtgagggta
      421 aattcaattg gcgtgttatt aaggaaaagc gggatgccta tgtgagccgc ctgaatgcca
      481 tctatcaaaa caatctcacc aagtcccata tagaaatcat ccgtggccat gcagccttca
      541 cgagtgatcc caagcccaca atagaggtca gtgggaaaaa gtacaccgcc ccacacatcc
      601 tgatcgccac aggtggtatg ccctccaccc ctcatgagag ccagatcccc ggtgccagct
      661 taggaataac cagcgatgga ttttttcagc tggaagaatt gcccggccgc agcgtcattg
      721 ttggtgcagg ttacattgct gtggagatgg cagggatcct gtcagccctg ggttctaaga
      781 catcactgat gatacggcat gataaggtac ttagaagttt tgattcaatg atcagcacca
      841 actgcacgga ggagctggag aacgctggcg tggaggtgct gaagttctcc caggtcaagg
      901 aggttaaaaa gactttgtcg ggcttggaag tcagcatggt tactgcagtt cccggtaggc
      961 taccagtcat gaccatgatt ccagatgttg actgcctgct ctgggccatt gggcgggtcc
     1021 cgaataccaa ggacctgagt ttaaacaaac tggggattca aaccgatgac aagggtcata
     1081 tcatcgtaga cgaattccag aataccaacg tcaaaggcat ctatgcagtt ggggatgtat
     1141 gtggaaaagc tcttcttact ccagttgcaa tagctgctgg ccgaaaactt gcccatcgac
     1201 tttttgaata taaggaagat tccaaattag attataacaa catcccaact gtggtcttca
     1261 gccacccccc tattgggaca gtgggactca cggaagatga agccattcat aaatatggaa
     1321 tagaaaatgt gaagacctat tcaacgagct ttaccccgat gtatcacgca gttaccaaaa
     1381 ggaaaacaaa atgtgtgatg aaaatggtct gtgctaacaa ggaagaaaag gtggttggga
     1441 tccatatgca gggacttggg tgtgatgaaa tgctgcaggg ttttgctgtt gcagtgaaga
     1501 tgggagcaac gaaggcagac tttgacaaca cagtcgccat tcaccctacc tcttcagaag
     1561 agctggtcac acttcgttga gaaccaggag acacgtgtgg cgggcagtgg gacccataga
     1621 tcttctgaaa tgaaacaaat aatcacattg acttactgtt tgagttttat gtatttcttt
     1681 attttaatca ggatcttctg atagtggaaa tttttagtac ataatagaac ttatttatgg
     1741 agttagaaat ttgtagtgtt atccaggatt gattttcatt tgatcacatc tcacagtaat
     1801 taatattttc aagttttttt tttattaaca gctctgtgct agtttttttt ttctgtttta
     1861 gcctcatccc aaatataaag ctttgtgaag tacaattaac ttaatgtact tgaatgaata
     1921 gaacttgcta cttttttttt tttttttttt gagacagagt tttgctctca ttgcccaggc
     1981 tggagtgcgg tggtgctatt tcagctcacc acaacctctg cctcctgggt tcaagtgatt
     2041 ctcctgcctt agcctcccga atagctggaa ttacaggcac gcaccaccat gcctgactaa
     2101 ttttgtattt ttagtagaca tggggtttct ccatgttggt caggctggtc tcaaactccc
     2161 accttcaggt gatccgccca cctcggcctc ctgaggtgct gagattacag gcgtgagcca
     2221 ctgtgccagc ttgctaattt tcacagaagt tgatggcaat tcttcacatg taaacagtgc
     2281 cagtgcacag aacctttata tattttttga agccagtact gtgctctgca tataacaaag
     2341 ctgcttcaag gatgagacct ttttctaaaa gcatgtaatg tgagaagccg gcctgcctta
     2401 ttttcttttt tcttttttaa tgattaaaaa tagtttgtgg caaggcacgg tggctcaggc
     2461 ctgtaattct agcactttgg gaggccgagg caggaggatt acttgagcct acaagtttga
     2521 ggccagcatg cacagcatag caagactgca tctctacaga gagtaaaaaa aattacccga
     2581 gtgtggtgat gtgcatctgt aatctcagct acttgggagg ctgaggtgag aggatcactt
     2641 gagcttgggt gaggtgaggc tgcagtgagt cctgatcatg ctgctgcact caatcttgga
     2701 caacagagca agaccctgtc tcaaaaaaaa aaaaaaaaaa tatatatata tatatatatt
     2761 atttttatga ggtgaagtgc atcaaacttg ggaaagattt gaggaggctg ggaacctcct
     2821 ggaaaaccac tccttgaaga aagatatgag agacatttag aagtgattcc tgctttcaga
     2881 aggaggtgga ttcaaataca tcaaaagtcc cttcctctgc taagtgttta tagttcaatg
     2941 aataatttca atatttgtat gtgttcttgt cattttattt ttttctgaaa aacttccaaa
     3001 aatttgaaaa taaaattaca gccttttctt ctta
//
LOCUS       NM_000638               1626 bp    mRNA    linear   PRI 03-APR-2023
DEFINITION  Homo sapiens vitronectin (VTN), mRNA.
ACCESSION   NM_000638
VERSION     NM_000638.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1626)
  AUTHORS   Zhang Y, Zhang W, Zhang R and Xia Y.
  TITLE     Knockdown of FBLN2 suppresses TGF-beta1-induced MRC-5 cell migration
            and fibrosis by downregulating VTN
  JOURNAL   Tissue Cell 81, 102005 (2023)
   PUBMED   36608640
  REMARK    GeneRIF: Knockdown of FBLN2 suppresses TGF-beta1-induced MRC-5 cell
            migration and fibrosis by downregulating VTN.
REFERENCE   2  (bases 1 to 1626)
  AUTHORS   Biasella F, Strunz T, Kiel C, On Behalf Of The International Amd
            Genomics Consortium Iamdgc, Weber BHF and Friedrich U.
  TITLE     Vitronectin and Its Interaction with PAI-1 Suggests a Functional
            Link to Vascular Changes in AMD Pathobiology
  JOURNAL   Cells 11 (11), 1766 (2022)
   PUBMED   35681461
  REMARK    GeneRIF: Vitronectin and Its Interaction with PAI-1 Suggests a
            Functional Link to Vascular Changes in AMD Pathobiology. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 1626)
  AUTHORS   Zhang S, Pan W, Wang H, Zhi C, Lin Y, Wu P, Ren Q, Wei P, Chen R, Li
            F, Xie Y, Wong CK, Tang H, Cai Z, Xu W and Zeng H.
  TITLE     Vitronectin, a Novel Urinary Proteomic Biomarker, Promotes Cell
            Pyroptosis in Juvenile Systemic Lupus Erythematosus
  JOURNAL   Mediators Inflamm 2022, 8447675 (2022)
   PUBMED   35462789
  REMARK    GeneRIF: Vitronectin, a Novel Urinary Proteomic Biomarker, Promotes
            Cell Pyroptosis in Juvenile Systemic Lupus Erythematosus.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1626)
  AUTHORS   Fox CR and Parks GD.
  TITLE     Complement Inhibitors Vitronectin and Clusterin Are Recruited from
            Human Serum to the Surface of Coronavirus OC43-Infected Lung Cells
            through Antibody-Dependent Mechanisms
  JOURNAL   Viruses 14 (1), 29 (2021)
   PUBMED   35062233
  REMARK    GeneRIF: Complement Inhibitors Vitronectin and Clusterin Are
            Recruited from Human Serum to the Surface of Coronavirus
            OC43-Infected Lung Cells through Antibody-Dependent Mechanisms.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1626)
  AUTHORS   Ghasempour G, Shaikhnia F, Soleimani AA, Rahimi B and Najafi M.
  TITLE     Correlations between vitronectin, miR-520, and miR-34 in patients
            with stenosis of coronary arteries
  JOURNAL   Mol Biol Rep 48 (12), 7913-7920 (2021)
   PUBMED   34652615
  REMARK    GeneRIF: Correlations between vitronectin, miR-520, and miR-34 in
            patients with stenosis of coronary arteries.
REFERENCE   6  (bases 1 to 1626)
  AUTHORS   Noris,M., Bresin,E., Mele,C. and Remuzzi,G.
  TITLE     Genetic Atypical Hemolytic-Uremic Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301541
REFERENCE   7  (bases 1 to 1626)
  AUTHORS   Liakka KA and Autio-Harmainen HI.
  TITLE     Distribution of the extracellular matrix proteins tenascin,
            fibronectin, and vitronectin in fetal, infant, and adult human
            spleens
  JOURNAL   J Histochem Cytochem 40 (8), 1203-1210 (1992)
   PUBMED   1377736
REFERENCE   8  (bases 1 to 1626)
  AUTHORS   Hagege J, Peraldi MN, Rondeau E, Adida C, Delarue F, Medcalf R,
            Schleuning WD and Sraer JD.
  TITLE     Plasminogen activator inhibitor-1 deposition in the extracellular
            matrix of cultured human mesangial cells
  JOURNAL   Am J Pathol 141 (1), 117-128 (1992)
   PUBMED   1632457
REFERENCE   9  (bases 1 to 1626)
  AUTHORS   Fink TM, Jenne DE and Lichter P.
  TITLE     The human vitronectin (complement S-protein) gene maps to the
            centromeric region of 17q
  JOURNAL   Hum Genet 88 (5), 569-572 (1992)
   PUBMED   1372588
REFERENCE   10  (bases 1 to 1626)
  AUTHORS   Fryklund,L. and Sievertsson,H.
  TITLE     Primary structure of somatomedin B: a growth hormone-dependent serum
            factor with protease inhibiting activity
  JOURNAL   FEBS Lett 87 (1), 55-60 (1978)
   PUBMED   631332
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.110316.1,
            SRR5189664.122025.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145122,
            SAMEA2155590 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000226218.9/ ENSP00000226218.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG470977.1, BC005046.1 and
            AI352496.1.
            On Nov 23, 2018 this sequence version replaced NM_000638.3.
            Summary: The protein encoded by this gene functions in part as an
            adhesive glycoprotein. Differential expression of this protein can
            promote either cell adhesion or migration as it links cells to the
            extracellular matrix through a variety of ligands. These ligands
            include integrins, plasminogen activator inhibitor-1, and urokinase
            plasminogen activator receptor. This secreted protein can be
            present in the plasma as a monomer or dimer and forms a multimer in
            the extracellular matrix of several tissues. This protein also
            inhibits the membrane-damaging effect of the terminal cytolytic
            complement pathway and binds to several serpin serine protease
            inhibitors. This protein can also promote extracellular matrix
            degradation and thus plays a role in tumorigenesis. It is involved
            in a variety of other biological processes such as the regulation
            of the coagulation pathway, wound healing, and tissue remodeling.
            The heparin-binding domain of this protein give it anti-microbial
            properties. It is also a lipid binding protein that forms a
            principal component of high density lipoprotein. [provided by
            RefSeq, Aug 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1626
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..1626
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="vitronectin"
                     /db_xref="GeneID:7448"
                     /db_xref="HGNC:HGNC:12724"
                     /db_xref="MIM:193190"
     misc_feature    87..89
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="upstream in-frame stop codon"
     CDS             105..1541
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="serum spreading factor; somatomedin B; complement
                     S-protein; epibolin"
                     /codon_start=1
                     /product="vitronectin precursor"
                     /protein_id="NP_000629.3"
                     /db_xref="CCDS:CCDS11229.1"
                     /db_xref="GeneID:7448"
                     /db_xref="HGNC:HGNC:12724"
                     /db_xref="MIM:193190"
                     /translation="MAPLRPLLILALLAWVALADQESCKGRCTEGFNVDKKCQCDELCS
                     YYQSCCTDYTAECKPQVTRGDVFTMPEDEYTVYDDGEEKNNATVHEQVGGPSLTSDLQA
                     QSKGNPEQTPVLKPEEEAPAPEVGASKPEGIDSRPETLHPGRPQPPAEEELCSGKPFDA
                     FTDLKNGSLFAFRGQYCYELDEKAVRPGYPKLIRDVWGIEGPIDAAFTRINCQGKTYLF
                     KGSQYWRFEDGVLDPDYPRNISDGFDGIPDNVDAALALPAHSYSGRERVYFFKGKQYWE
                     YQFQHQPSQEECEGSSLSAVFEHFAMMQRDSWEDIFELLFWGRTSAGTRQPQFISRDWH
                     GVPGQVDAAMAGRIYISGMAPRPSLAKKQRFRHRNRKGYRSQRGHSRGRNQNSRRPSRA
                     TWLSLFSSEESNLGANNYDDYRMDWLVPATCEPIQSVFFFSGDKYYRVNLRTRRVDTVD
                     PPYPRSIAQYWLGCPAPGHL"
     sig_peptide     105..161
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     162..1538
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /product="vitronectin"
     misc_feature    294..302
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="propagated from UniProtKB/Swiss-Prot (P04004.1);
                     Region: Cell attachment site"
     misc_feature    309..311
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="Phosphothreonine, by CK2, in vitro.
                     /evidence=ECO:0000269|PubMed:9733784; propagated from
                     UniProtKB/Swiss-Prot (P04004.1); phosphorylation site"
     misc_feature    327..329
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:17558413; propagated from
                     UniProtKB/Swiss-Prot (P04004.1); sulfatation site"
     misc_feature    330..332
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="Phosphothreonine, by CK2, in vitro.
                     /evidence=ECO:0000269|PubMed:9733784; propagated from
                     UniProtKB/Swiss-Prot (P04004.1); phosphorylation site"
     misc_feature    336..338
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:17558413; propagated from
                     UniProtKB/Swiss-Prot (P04004.1); sulfatation site"
     misc_feature    360..362
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:17558413,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (P04004.1);
                     glycosylation site"
     misc_feature    375..578
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="propagated from UniProtKB/Swiss-Prot (P04004.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    492..494
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P04004.1); phosphorylation site"
     misc_feature    513..515
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P04004.1); phosphorylation site"
     misc_feature    576..710
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="propagated from UniProtKB/Swiss-Prot (P04004.1);
                     Region: Hemopexin 1"
     misc_feature    609..611
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (P04004.1);
                     glycosylation site"
     misc_feature    711..854
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="propagated from UniProtKB/Swiss-Prot (P04004.1);
                     Region: Hemopexin 2"
     misc_feature    828..830
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04004.1); glycosylation site"
     misc_feature    855..1019
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="propagated from UniProtKB/Swiss-Prot (P04004.1);
                     Region: Hemopexin 3"
     misc_feature    948..950
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P04004.1); sulfatation site"
     misc_feature    1038..1040
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:17558413,
                     ECO:0007744|PubMed:16807684, ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P04004.1); phosphorylation site"
     misc_feature    1188..1289
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="propagated from UniProtKB/Swiss-Prot (P04004.1);
                     Region: Heparin-binding"
     misc_feature    1194..1298
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="propagated from UniProtKB/Swiss-Prot (P04004.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1293..1295
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:1696913,
                     ECO:0000269|PubMed:2448300; propagated from
                     UniProtKB/Swiss-Prot (P04004.1); phosphorylation site"
     misc_feature    1296..1301
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="Cleavage; propagated from UniProtKB/Swiss-Prot
                     (P04004.1); cleavage site"
     misc_feature    1353..1355
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P04004.1); sulfatation site"
     misc_feature    1359..1520
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="propagated from UniProtKB/Swiss-Prot (P04004.1);
                     Region: Hemopexin 4"
     misc_feature    1362..1364
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P04004.1); sulfatation site"
     regulatory      1605..1610
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="hexamer: AATAAA"
     polyA_site      1626
                     /gene="VTN"
                     /gene_synonym="V75; VN; VNT"
                     /note="major polyA site"
ORIGIN
        1 ctccttccct gtctctgcct ctccctccct tcctcaggca tcagagcgga gacttcaggg
       61 agaccagagc ccagcttgcc aggcactgag ctagaagccc tgccatggca cccctgagac
      121 cccttctcat actggccctg ctggcatggg ttgctctggc tgaccaagag tcatgcaagg
      181 gccgctgcac tgagggcttc aacgtggaca agaagtgcca gtgtgacgag ctctgctctt
      241 actaccagag ctgctgcaca gactatacgg ctgagtgcaa gccccaagtg actcgcgggg
      301 atgtgttcac tatgccggag gatgagtaca cggtctatga cgatggcgag gagaaaaaca
      361 atgccactgt ccatgaacag gtggggggcc cctccctgac ctctgacctc caggcccagt
      421 ccaaagggaa tcctgagcag acacctgttc tgaaacctga ggaagaggcc cctgcgcctg
      481 aggtgggcgc ctctaagcct gaggggatag actcaaggcc tgagaccctt catccaggga
      541 gacctcagcc cccagcagag gaggagctgt gcagtgggaa gcccttcgac gccttcaccg
      601 acctcaagaa cggttccctc tttgccttcc gagggcagta ctgctatgaa ctggacgaaa
      661 aggcagtgag gcctgggtac cccaagctca tccgagatgt ctggggcatc gagggcccca
      721 tcgatgccgc cttcacccgc atcaactgtc aggggaagac ctacctcttc aagggtagtc
      781 agtactggcg ctttgaggat ggtgtcctgg accctgatta cccccgaaat atctctgacg
      841 gcttcgatgg catcccggac aacgtggatg cagccttggc cctccctgcc catagctaca
      901 gtggccggga gcgggtctac ttcttcaagg ggaaacagta ctgggagtac cagttccagc
      961 accagcccag tcaggaggag tgtgaaggca gctccctgtc ggctgtgttt gaacactttg
     1021 ccatgatgca gcgggacagc tgggaggaca tcttcgagct tctcttctgg ggcagaacct
     1081 ctgctggtac cagacagccc cagttcatta gccgggactg gcacggtgtg ccagggcaag
     1141 tggacgcagc catggctggc cgcatctaca tctcaggcat ggcaccccgc ccctccttgg
     1201 ccaagaaaca aaggtttagg catcgcaacc gcaaaggcta ccgttcacaa cgaggccaca
     1261 gccgtggccg caaccagaac tcccgccggc catcccgcgc cacgtggctg tccttgttct
     1321 ccagtgagga gagcaacttg ggagccaaca actatgatga ctacaggatg gactggcttg
     1381 tgcctgccac ctgtgaaccc atccagagtg tcttcttctt ctctggagac aagtactacc
     1441 gagtcaatct tcgcacacgg cgagtggaca ctgtggaccc tccctaccca cgctccatcg
     1501 ctcagtactg gctgggctgc ccagctcctg gccatctgta ggagtcagag cccacatggc
     1561 cgggccctct gtagctccct cctcccatct ccttccccca gcccaataaa ggtcccttag
     1621 ccccga
//
LOCUS       NM_000639               1805 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens Fas ligand (FASLG), transcript variant 1, mRNA.
ACCESSION   NM_000639
VERSION     NM_000639.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1805)
  AUTHORS   Choy JC.
  TITLE     The complex web of FasL: cell type-specific roles in affecting and
            controlling acute graft-vs-host disease
  JOURNAL   J Leukoc Biol 114 (3), 202-204 (2023)
   PUBMED   37431614
  REMARK    GeneRIF: The complex web of FasL: cell type-specific roles in
            affecting and controlling acute graft-vs-host disease.
REFERENCE   2  (bases 1 to 1805)
  AUTHORS   Souza IP, Amoras EDSG, Sousa FDM, Sousa PVNR, Lima SS,
            Cayres-Vallinoto IMV, Ishak R, Vallinoto ACR and Queiroz MAF.
  TITLE     Plasma Levels of sFas-sFasL and FASL Gene Expression Are Associated
            with Tuberculosis
  JOURNAL   Biomolecules 13 (1), 80 (2022)
   PUBMED   36671466
  REMARK    GeneRIF: Plasma Levels of sFas-sFasL and FASL Gene Expression Are
            Associated with Tuberculosis. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1805)
  AUTHORS   da Silva Lawisch GK, Biolchi V, Kaufmann G, Nicolai G, Capitaneo E,
            Rosembach TR, Zang J, Brum IS and Chies JAB.
  TITLE     The role of FASL, BCL-2 and BAX polymorphisms in brazilian patients
            with prostate cancer and benign prostatic hyperplasia
  JOURNAL   Mol Biol Rep 49 (10), 9445-9451 (2022)
   PUBMED   35988104
  REMARK    GeneRIF: The role of FASL, BCL-2 and BAX polymorphisms in brazilian
            patients with prostate cancer and benign prostatic hyperplasia.
REFERENCE   4  (bases 1 to 1805)
  AUTHORS   Regis S, Dondero A, Spaggiari GM, Serra M, Caliendo F, Bottino C and
            Castriconi R.
  TITLE     miR-24-3p down-regulates the expression of the apoptotic factors
            FasL and BIM in human natural killer cells
  JOURNAL   Cell Signal 98, 110415 (2022)
   PUBMED   35870695
  REMARK    GeneRIF: miR-24-3p down-regulates the expression of the apoptotic
            factors FasL and BIM in human natural killer cells.
REFERENCE   5  (bases 1 to 1805)
  AUTHORS   Asgari R, Bidmeshkipour A, Mansouri K, Bakhtiari M, Mozafari H and
            Abdolmaleki A.
  TITLE     Fas cell surface death receptor/Fas ligand genetic variants in
            gastric cancer patients: A case-control study
  JOURNAL   Indian J Med Res 156 (1), 77-82 (2022)
   PUBMED   36124496
  REMARK    GeneRIF: Fas cell surface death receptor/Fas ligand genetic variants
            in gastric cancer patients: A case-control study.
REFERENCE   6  (bases 1 to 1805)
  AUTHORS   Boldin MP, Varfolomeev EE, Pancer Z, Mett IL, Camonis JH and Wallach
            D.
  TITLE     A novel protein that interacts with the death domain of Fas/APO1
            contains a sequence motif related to the death domain
  JOURNAL   J Biol Chem 270 (14), 7795-7798 (1995)
   PUBMED   7536190
REFERENCE   7  (bases 1 to 1805)
  AUTHORS   Brunner T, Mogil RJ, LaFace D, Yoo NJ, Mahboubi A, Echeverri F,
            Martin SJ, Force WR, Lynch DH, Ware CF et al.
  TITLE     Cell-autonomous Fas (CD95)/Fas-ligand interaction mediates
            activation-induced apoptosis in T-cell hybridomas
  JOURNAL   Nature 373 (6513), 441-444 (1995)
   PUBMED   7530336
REFERENCE   8  (bases 1 to 1805)
  AUTHORS   Alderson MR, Tough TW, Davis-Smith T, Braddy S, Falk B, Schooley KA,
            Goodwin RG, Smith CA, Ramsdell F and Lynch DH.
  TITLE     Fas ligand mediates activation-induced cell death in human T
            lymphocytes
  JOURNAL   J Exp Med 181 (1), 71-77 (1995)
   PUBMED   7528780
REFERENCE   9  (bases 1 to 1805)
  AUTHORS   Suda T, Takahashi T, Golstein P and Nagata S.
  TITLE     Molecular cloning and expression of the Fas ligand, a novel member
            of the tumor necrosis factor family
  JOURNAL   Cell 75 (6), 1169-1178 (1993)
   PUBMED   7505205
REFERENCE   10  (bases 1 to 1805)
  AUTHORS   Bleesing,J.J.H., Nagaraj,C.B. and Zhang,K.
  TITLE     Autoimmune Lymphoproliferative Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301287
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X89102.1, BC017502.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367721.3/ ENSP00000356694.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X89102.1 and Z96050.1.
            On Nov 23, 2018 this sequence version replaced NM_000639.2.
            Summary: This gene is a member of the tumor necrosis factor
            superfamily. The primary function of the encoded transmembrane
            protein is the induction of apoptosis triggered by binding to FAS.
            The FAS/FASLG signaling pathway is essential for immune system
            regulation, including activation-induced cell death (AICD) of T
            cells and cytotoxic T lymphocyte induced cell death. It has also
            been implicated in the progression of several cancers. Defects in
            this gene may be related to some cases of systemic lupus
            erythematosus (SLE). Alternatively spliced transcript variants have
            been described. [provided by RefSeq, Nov 2014].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1805
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.3"
     gene            1..1805
                     /gene="FASLG"
                     /gene_synonym="ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L;
                     FASL; TNFSF6; TNLG1A"
                     /note="Fas ligand"
                     /db_xref="GeneID:356"
                     /db_xref="HGNC:HGNC:11936"
                     /db_xref="MIM:134638"
     CDS             100..945
                     /gene="FASLG"
                     /gene_synonym="ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L;
                     FASL; TNFSF6; TNLG1A"
                     /note="isoform 1 is encoded by transcript variant 1; CD95
                     ligand; apoptosis (APO-1) antigen ligand 1; tumor necrosis
                     factor ligand superfamily member 6; fas antigen ligand;
                     apoptosis antigen ligand; mutant tumor necrosis factor
                     family member 6; Fas ligand (TNF superfamily, member 6);
                     tumor necrosis factor ligand 1A"
                     /codon_start=1
                     /product="tumor necrosis factor ligand superfamily member 6
                     isoform 1"
                     /protein_id="NP_000630.1"
                     /db_xref="CCDS:CCDS1304.1"
                     /db_xref="GeneID:356"
                     /db_xref="HGNC:HGNC:11936"
                     /db_xref="MIM:134638"
                     /translation="MQQPFNYPYPQIYWVDSSASSPWAPPGTVLPCPTSVPRRPGQRRP
                     PPPPPPPPLPPPPPPPPLPPLPLPPLKKRGNHSTGLCLLVMFFMVLVALVGLGLGMFQL
                     FHLQKELAELRESTSQMHTASSLEKQIGHPSPPPEKKELRKVAHLTGKSNSRSMPLEWE
                     DTYGIVLLSGVKYKKGGLVINETGLYFVYSKVYFRGQSCNNLPLSHKVYMRNSKYPQDL
                     VMMEGKMMSYCTTGQMWARSSYLGAVFNLTSADHLYVNVSELSLVNFEESQTFFGLYKL
                     "
     mat_peptide     100..486
                     /gene="FASLG"
                     /gene_synonym="ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L;
                     FASL; TNFSF6; TNLG1A"
                     /product="ADAM10-processed FasL form. /id=PRO_0000417152"
                     /note="propagated from UniProtKB/Swiss-Prot (P48023.1)"
     mat_peptide     100..342
                     /gene="FASLG"
                     /gene_synonym="ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L;
                     FASL; TNFSF6; TNLG1A"
                     /product="FasL intracellular domain. /id=PRO_0000416842"
                     /note="propagated from UniProtKB/Swiss-Prot (P48023.1)"
     misc_feature    157..312
                     /gene="FASLG"
                     /gene_synonym="ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L;
                     FASL; TNFSF6; TNLG1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P48023.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    340..405
                     /gene="FASLG"
                     /gene_synonym="ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L;
                     FASL; TNFSF6; TNLG1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P48023.1);
                     transmembrane region"
     misc_feature    340..345
                     /gene="FASLG"
                     /gene_synonym="ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L;
                     FASL; TNFSF6; TNLG1A"
                     /note="Cleavage, by SPPL2A. /evidence=ECO:0000305;
                     propagated from UniProtKB/Swiss-Prot (P48023.1); cleavage
                     site"
     misc_feature    451..525
                     /gene="FASLG"
                     /gene_synonym="ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L;
                     FASL; TNFSF6; TNLG1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P48023.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    484..489
                     /gene="FASLG"
                     /gene_synonym="ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L;
                     FASL; TNFSF6; TNLG1A"
                     /note="Cleavage, by ADAM10. /evidence=ECO:0000305;
                     propagated from UniProtKB/Swiss-Prot (P48023.1); cleavage
                     site"
     mat_peptide     487..942
                     /gene="FASLG"
                     /gene_synonym="ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L;
                     FASL; TNFSF6; TNLG1A"
                     /product="Tumor necrosis factor ligand superfamily member
                     6, soluble form. /id=PRO_0000034501"
                     /note="propagated from UniProtKB/Swiss-Prot (P48023.1)"
     misc_feature    649..651
                     /gene="FASLG"
                     /gene_synonym="ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L;
                     FASL; TNFSF6; TNLG1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P48023.1); glycosylation site"
     misc_feature    847..849
                     /gene="FASLG"
                     /gene_synonym="ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L;
                     FASL; TNFSF6; TNLG1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P48023.1); glycosylation site"
     misc_feature    877..879
                     /gene="FASLG"
                     /gene_synonym="ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L;
                     FASL; TNFSF6; TNLG1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P48023.1); glycosylation site"
     regulatory      1776..1781
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FASLG"
                     /gene_synonym="ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L;
                     FASL; TNFSF6; TNLG1A"
                     /note="hexamer: AATAAA"
     polyA_site      1805
                     /gene="FASLG"
                     /gene_synonym="ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L;
                     FASL; TNFSF6; TNLG1A"
                     /note="major polyA site"
ORIGIN
        1 agcagtcagc aacagggtcc cgtccttgac acctcagcct ctacaggact gagaagaagt
       61 aaaaccgttt gctggggctg gcctgactca ccagctgcca tgcagcagcc cttcaattac
      121 ccatatcccc agatctactg ggtggacagc agtgccagct ctccctgggc ccctccaggc
      181 acagttcttc cctgtccaac ctctgtgccc agaaggcctg gtcaaaggag gccaccacca
      241 ccaccgccac cgccaccact accacctccg ccgccgccgc caccactgcc tccactaccg
      301 ctgccacccc tgaagaagag agggaaccac agcacaggcc tgtgtctcct tgtgatgttt
      361 ttcatggttc tggttgcctt ggtaggattg ggcctgggga tgtttcagct cttccaccta
      421 cagaaggagc tggcagaact ccgagagtct accagccaga tgcacacagc atcatctttg
      481 gagaagcaaa taggccaccc cagtccaccc cctgaaaaaa aggagctgag gaaagtggcc
      541 catttaacag gcaagtccaa ctcaaggtcc atgcctctgg aatgggaaga cacctatgga
      601 attgtcctgc tttctggagt gaagtataag aagggtggcc ttgtgatcaa tgaaactggg
      661 ctgtactttg tatattccaa agtatacttc cggggtcaat cttgcaacaa cctgcccctg
      721 agccacaagg tctacatgag gaactctaag tatccccagg atctggtgat gatggagggg
      781 aagatgatga gctactgcac tactgggcag atgtgggccc gcagcagcta cctgggggca
      841 gtgttcaatc ttaccagtgc tgatcattta tatgtcaacg tatctgagct ctctctggtc
      901 aattttgagg aatctcagac gtttttcggc ttatataagc tctaagagaa gcactttggg
      961 attctttcca ttatgattct ttgttacagg caccgagaat gttgtattca gtgagggtct
     1021 tcttacatgc atttgaggtc aagtaagaag acatgaacca agtggacctt gagaccacag
     1081 ggttcaaaat gtctgtagct cctcaactca cctaatgttt atgagccaga caaatggagg
     1141 aatatgacgg aagaacatag aactctgggc tgccatgtga agagggagaa gcatgaaaaa
     1201 gcagctacca ggtgttctac actcatctta gtgcctgaga gtatttaggc agattgaaaa
     1261 ggacaccttt taactcacct ctcaaggtgg gccttgctac ctcaaggggg actgtctttc
     1321 agatacatgg ttgtgacctg aggatttaag ggatggaaaa ggaagactag aggcttgcat
     1381 aataagctaa agaggctgaa agaggccaat gccccactgg cagcatcttc acttctaaat
     1441 gcatatcctg agccatcggt gaaactaaca gataagcaag agagatgttt tggggactca
     1501 tttcattcct aacacagcat gtgtatttcc agtgcaattg taggggtgtg tgtgtgtgtg
     1561 tgtgtgtgtg tgtgtgtatg actaaagaga gaatgtagat attgtgaagt acatattagg
     1621 aaaatatggg ttgcatttgg tcaagatttt gaatgcttcc tgacaatcaa ctctaatagt
     1681 gcttaaaaat cattgattgt cagctactaa tgatgttttc ctataatata ataaatattt
     1741 atgtagatgt gcatttttgt gaaatgaaaa catgtaataa aaagtatatg ttaggataca
     1801 aataa
//
LOCUS       NM_000640               1338 bp    mRNA    linear   PRI 15-MAY-2023
DEFINITION  Homo sapiens interleukin 13 receptor subunit alpha 2 (IL13RA2),
            mRNA.
ACCESSION   NM_000640
VERSION     NM_000640.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1338)
  AUTHORS   Chao H, Zheng L, Hsu P, He J, Wu R, Xu S, Zeng R, Zhou Y, Ma H, Liu
            H and Tang Q.
  TITLE     IL-13RA2 downregulation in fibroblasts promotes keloid fibrosis via
            JAK/STAT6 activation
  JOURNAL   JCI Insight 8 (6), e157091 (2023)
   PUBMED   36757802
  REMARK    GeneRIF: IL-13RA2 downregulation in fibroblasts promotes keloid
            fibrosis via JAK/STAT6 activation. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1338)
  AUTHORS   Nagai T, Terada N, Fujii M, Nagata Y, Nakahara K, Mukai S, Okasho K,
            Kamiyama Y, Akamatsu S, Kobayashi T, Iida K, Denawa M, Hagiwara M,
            Inoue T, Ogawa O and Kamoto T.
  TITLE     Identification of the alpha2 chain of interleukin-13 receptor as a
            potential biomarker for predicting castration resistance of prostate
            cancer using patient-derived xenograft models
  JOURNAL   Cancer Rep (Hoboken) 6 (2), e1701 (2023)
   PUBMED   36806727
  REMARK    GeneRIF: Identification of the alpha2 chain of interleukin-13
            receptor as a potential biomarker for predicting castration
            resistance of prostate cancer using patient-derived xenograft
            models.
REFERENCE   3  (bases 1 to 1338)
  AUTHORS   Marquez-Ortiz RA, Contreras-Zarate MJ, Tesic V, Alvarez-Eraso KLF,
            Kwak G, Littrell Z, Costello JC, Sreekanth V, Ormond DR, Karam SD,
            Kabos P and Cittelly DM.
  TITLE     IL13Ralpha2 Promotes Proliferation and Outgrowth of Breast Cancer
            Brain Metastases
  JOURNAL   Clin Cancer Res 27 (22), 6209-6221 (2021)
   PUBMED   34544797
  REMARK    GeneRIF: IL13Ralpha2 Promotes Proliferation and Outgrowth of Breast
            Cancer Brain Metastases.
REFERENCE   4  (bases 1 to 1338)
  AUTHORS   Karakas N, Stuckey D, Revai-Lechtich E and Shah K.
  TITLE     IL13Ralpha2- and EGFR-targeted pseudomonas exotoxin potentiates the
            TRAIL-mediated death of GBM cells
  JOURNAL   Int J Mol Med 48 (1) (2021)
   PUBMED   34080646
  REMARK    GeneRIF: IL13Ralpha2 and EGFRtargeted pseudomonas exotoxin
            potentiates the TRAILmediated death of GBM cells.
REFERENCE   5  (bases 1 to 1338)
  AUTHORS   Li L, Wei K, Ding Y, Ahati P, Xu H, Fang H and Wang H.
  TITLE     M2a Macrophage-Secreted CHI3L1 Promotes Extracellular Matrix
            Metabolic Imbalances via Activation of IL-13Ralpha2/MAPK Pathway in
            Rat Intervertebral Disc Degeneration
  JOURNAL   Front Immunol 12, 666361 (2021)
   PUBMED   34168643
  REMARK    GeneRIF: M2a Macrophage-Secreted CHI3L1 Promotes Extracellular
            Matrix Metabolic Imbalances via Activation of IL-13Ralpha2/MAPK
            Pathway in Rat Intervertebral Disc Degeneration. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 1338)
  AUTHORS   Donaldson DD, Whitters MJ, Fitz LJ, Neben TY, Finnerty H, Henderson
            SL, O'Hara RM Jr, Beier DR, Turner KJ, Wood CR and Collins M.
  TITLE     The murine IL-13 receptor alpha 2: molecular cloning,
            characterization, and comparison with murine IL-13 receptor alpha 1
  JOURNAL   J Immunol 161 (5), 2317-2324 (1998)
   PUBMED   9725226
REFERENCE   7  (bases 1 to 1338)
  AUTHORS   Guo J, Apiou F, Mellerin MP, Lebeau B, Jacques Y and Minvielle S.
  TITLE     Chromosome mapping and expression of the human interleukin-13
            receptor
  JOURNAL   Genomics 42 (1), 141-145 (1997)
   PUBMED   9177784
REFERENCE   8  (bases 1 to 1338)
  AUTHORS   Zhang JG, Hilton DJ, Willson TA, McFarlane C, Roberts BA, Moritz RL,
            Simpson RJ, Alexander WS, Metcalf D and Nicola NA.
  TITLE     Identification, purification, and characterization of a soluble
            interleukin (IL)-13-binding protein. Evidence that it is distinct
            from the cloned Il-13 receptor and Il-4 receptor alpha-chains
  JOURNAL   J Biol Chem 272 (14), 9474-9480 (1997)
   PUBMED   9083087
REFERENCE   9  (bases 1 to 1338)
  AUTHORS   Gauchat JF, Schlagenhauf E, Feng NP, Moser R, Yamage M, Jeannin P,
            Alouani S, Elson G, Notarangelo LD, Wells T, Eugster HP and Bonnefoy
            JY.
  TITLE     A novel 4-kb interleukin-13 receptor alpha mRNA expressed in human
            B, T, and endothelial cells encoding an alternate type-II
            interleukin-4/interleukin-13 receptor
  JOURNAL   Eur J Immunol 27 (4), 971-978 (1997)
   PUBMED   9130652
REFERENCE   10  (bases 1 to 1338)
  AUTHORS   Caput D, Laurent P, Kaghad M, Lelias JM, Lefort S, Vita N and
            Ferrara P.
  TITLE     Cloning and characterization of a specific interleukin (IL)-13
            binding protein structurally related to the IL-5 receptor alpha
            chain
  JOURNAL   J Biol Chem 271 (28), 16921-16926 (1996)
   PUBMED   8663118
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK291957.1, Y08768.1 [ECO:0000332]
            RNAseq introns :: mixed/partial sample support SAMEA1966682,
            SAMEA1968189 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000243213.2/ ENSP00000243213.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Y08768.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000640.2.
            Summary: The protein encoded by this gene is closely related to
            Il13RA1, a subuint of the interleukin 13 receptor complex. This
            protein binds IL13 with high affinity, but lacks cytoplasmic
            domain, and does not appear to function as a signal mediator. It is
            reported to play a role in the internalization of IL13. [provided
            by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1338
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq23"
     gene            1..1338
                     /gene="IL13RA2"
                     /gene_synonym="CD213A2; CT19; IL-13R; IL13BP"
                     /note="interleukin 13 receptor subunit alpha 2"
                     /db_xref="GeneID:3598"
                     /db_xref="HGNC:HGNC:5975"
                     /db_xref="MIM:300130"
     misc_feature    20..22
                     /gene="IL13RA2"
                     /gene_synonym="CD213A2; CT19; IL-13R; IL13BP"
                     /note="upstream in-frame stop codon"
     CDS             98..1240
                     /gene="IL13RA2"
                     /gene_synonym="CD213A2; CT19; IL-13R; IL13BP"
                     /note="cancer/testis antigen 19; interleukin 13 binding
                     protein; interleukin 13 receptor alpha 2 chain; IL-13RA2;
                     IL-13R-alpha-2; IL-13R subunit alpha-2; IL-13 receptor
                     subunit alpha-2; interleukin 13 receptor, alpha 2"
                     /codon_start=1
                     /product="interleukin-13 receptor subunit alpha-2
                     precursor"
                     /protein_id="NP_000631.1"
                     /db_xref="CCDS:CCDS14565.1"
                     /db_xref="GeneID:3598"
                     /db_xref="HGNC:HGNC:5975"
                     /db_xref="MIM:300130"
                     /translation="MAFVCLAIGCLYTFLISTTFGCTSSSDTEIKVNPPQDFEIVDPGY
                     LGYLYLQWQPPLSLDHFKECTVEYELKYRNIGSETWKTIITKNLHYKDGFDLNKGIEAK
                     IHTLLPWQCTNGSEVQSSWAETTYWISPQGIPETKVQDMDCVYYNWQYLLCSWKPGIGV
                     LLDTNYNLFYWYEGLDHALQCVDYIKADGQNIGCRFPYLEASDYKDFYICVNGSSENKP
                     IRSSYFTFQLQNIVKPLPPVYLTFTRESSCEIKLKWSIPLGPIPARCFDYEIEIREDDT
                     TLVTATVENETYTLKTTNETRQLCFVVRSKVNIYCSDDGIWSEWSDKQCWEGEDLSKKT
                     LLRFWLPFGFILILVIFVTGLLLRKPNTYPKMIPEFFCDT"
     sig_peptide     98..175
                     /gene="IL13RA2"
                     /gene_synonym="CD213A2; CT19; IL-13R; IL13BP"
     mat_peptide     176..1237
                     /gene="IL13RA2"
                     /gene_synonym="CD213A2; CT19; IL-13R; IL13BP"
                     /product="interleukin-13 receptor subunit alpha-2"
     misc_feature    440..442
                     /gene="IL13RA2"
                     /gene_synonym="CD213A2; CT19; IL-13R; IL13BP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14627.1); glycosylation site"
     misc_feature    740..742
                     /gene="IL13RA2"
                     /gene_synonym="CD213A2; CT19; IL-13R; IL13BP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20223216; propagated from
                     UniProtKB/Swiss-Prot (Q14627.1); glycosylation site"
     misc_feature    965..967
                     /gene="IL13RA2"
                     /gene_synonym="CD213A2; CT19; IL-13R; IL13BP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14627.1); glycosylation site"
     misc_feature    992..994
                     /gene="IL13RA2"
                     /gene_synonym="CD213A2; CT19; IL-13R; IL13BP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14627.1); glycosylation site"
     misc_feature    1061..1075
                     /gene="IL13RA2"
                     /gene_synonym="CD213A2; CT19; IL-13R; IL13BP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14627.1);
                     Region: WSXWS motif"
     misc_feature    1127..1186
                     /gene="IL13RA2"
                     /gene_synonym="CD213A2; CT19; IL-13R; IL13BP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14627.1);
                     transmembrane region"
     regulatory      1315..1320
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL13RA2"
                     /gene_synonym="CD213A2; CT19; IL-13R; IL13BP"
                     /note="hexamer: AATAAA"
     polyA_site      1338
                     /gene="IL13RA2"
                     /gene_synonym="CD213A2; CT19; IL-13R; IL13BP"
                     /note="major polyA site"
ORIGIN
        1 cttccggatg aaggctattt gaagtcgcca taacctggtc agaagtgtgc ctgtcggcgg
       61 ggagagaggc aatatcaagg ttttaaatct cggagaaatg gctttcgttt gcttggctat
      121 cggatgctta tatacctttc tgataagcac aacatttggc tgtacttcat cttcagacac
      181 cgagataaaa gttaaccctc ctcaggattt tgagatagtg gatcccggat acttaggtta
      241 tctctatttg caatggcaac ccccactgtc tctggatcat tttaaggaat gcacagtgga
      301 atatgaacta aaataccgaa acattggtag tgaaacatgg aagaccatca ttactaagaa
      361 tctacattac aaagatgggt ttgatcttaa caagggcatt gaagcgaaga tacacacgct
      421 tttaccatgg caatgcacaa atggatcaga agttcaaagt tcctgggcag aaactactta
      481 ttggatatca ccacaaggaa ttccagaaac taaagttcag gatatggatt gcgtatatta
      541 caattggcaa tatttactct gttcttggaa acctggcata ggtgtacttc ttgataccaa
      601 ttacaacttg ttttactggt atgagggctt ggatcatgca ttacagtgtg ttgattacat
      661 caaggctgat ggacaaaata taggatgcag atttccctat ttggaggcat cagactataa
      721 agatttctat atttgtgtta atggatcatc agagaacaag cctatcagat ccagttattt
      781 cacttttcag cttcaaaata tagttaaacc tttgccgcca gtctatctta cttttactcg
      841 ggagagttca tgtgaaatta agctgaaatg gagcatacct ttgggaccta ttccagcaag
      901 gtgttttgat tatgaaattg agatcagaga agatgatact accttggtga ctgctacagt
      961 tgaaaatgaa acatacacct tgaaaacaac aaatgaaacc cgacaattat gctttgtagt
     1021 aagaagcaaa gtgaatattt attgctcaga tgacggaatt tggagtgagt ggagtgataa
     1081 acaatgctgg gaaggtgaag acctatcgaa gaaaactttg ctacgtttct ggctaccatt
     1141 tggtttcatc ttaatattag ttatatttgt aaccggtctg cttttgcgta agccaaacac
     1201 ctacccaaaa atgattccag aatttttctg tgatacatga agactttcca tatcaagaga
     1261 catggtattg actcaacagt ttccagtcat ggccaaatgt tcaatatgag tctcaataaa
     1321 ctgaattttt cttgcgaa
//
LOCUS       NM_000641               2378 bp    mRNA    linear   PRI 23-MAY-2023
DEFINITION  Homo sapiens interleukin 11 (IL11), transcript variant 1, mRNA.
ACCESSION   NM_000641
VERSION     NM_000641.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2378)
  AUTHORS   Zhao Q, Qian L, Guo Y, Lu J, Li D, Xie H, Wang Q, Ma W, Liu P, Liu
            Y, Wang T, Wu X, Han J and Yu Z.
  TITLE     IL11 signaling mediates piR-2158 suppression of cell stemness and
            angiogenesis in breast cancer
  JOURNAL   Theranostics 13 (7), 2337-2349 (2023)
   PUBMED   37153732
  REMARK    GeneRIF: IL11 signaling mediates piR-2158 suppression of cell
            stemness and angiogenesis in breast cancer. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2378)
  AUTHORS   Xiao R, Gu L, Li AM, Gan YL, He CY, Liao JX, Li YS, Xu L and Guo SL.
  TITLE     IL-11 drives the phenotypic transformation of tracheal epithelial
            cells and fibroblasts to enhance abnormal repair after tracheal
            injury
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1870 (4), 119438 (2023)
   PUBMED   36758859
  REMARK    GeneRIF: IL-11 drives the phenotypic transformation of tracheal
            epithelial cells and fibroblasts to enhance abnormal repair after
            tracheal injury.
REFERENCE   3  (bases 1 to 2378)
  AUTHORS   Stuart SF, Bezawork-Geleta A, Areeb Z, Gomez J, Tsui V, Zulkifli A,
            Paradiso L, Jones J, Nguyen HPT, Putoczki TL, Licciardi PV,
            Kannourakis G, Morokoff AP, Achuthan AA and Luwor RB.
  TITLE     The Interleukin-11/IL-11 Receptor Promotes Glioblastoma Survival and
            Invasion under Glucose-Starved Conditions through Enhanced
            Glutaminolysis
  JOURNAL   Int J Mol Sci 24 (4), 3356 (2023)
   PUBMED   36834778
  REMARK    GeneRIF: The Interleukin-11/IL-11 Receptor Promotes Glioblastoma
            Survival and Invasion under Glucose-Starved Conditions through
            Enhanced Glutaminolysis. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2378)
  AUTHORS   Zuo D, Zheng Q, Xiao M, Wang X, Chen H, Xu J, Zhang Q, Xiong Y, Ye L
            and Feng Z.
  TITLE     Anti-apoptosis effect of recombinant human interleukin-11 in
            neonatal hypoxic-ischemic rats through activating the
            IL-11Ralpha/STAT3 signaling pathway
  JOURNAL   J Stroke Cerebrovasc Dis 32 (2), 106923 (2023)
   PUBMED   36521373
  REMARK    GeneRIF: Anti-apoptosis effect of recombinant human interleukin-11
            in neonatal hypoxic-ischemic rats through activating the
            IL-11Ralpha/STAT3 signaling pathway.
REFERENCE   5  (bases 1 to 2378)
  AUTHORS   Airapetov MI, Eresko SO, Ignatova PD, Lebedev AA, Bychkov ER and
            Shabanov PD.
  TITLE     [Interleukin-11 in Pathologies of the Nervous System]
  JOURNAL   Mol Biol (Mosk) 57 (1), 3-9 (2023)
   PUBMED   36976735
  REMARK    GeneRIF: [Interleukin-11 in Pathologies of the Nervous System].
            Review article
REFERENCE   6  (bases 1 to 2378)
  AUTHORS   Wang XY, Fuhrer DK, Marshall MS and Yang YC.
  TITLE     Interleukin-11 induces complex formation of Grb2, Fyn, and JAK2 in
            3T3L1 cells
  JOURNAL   J Biol Chem 270 (47), 27999-28002 (1995)
   PUBMED   7499280
REFERENCE   7  (bases 1 to 2378)
  AUTHORS   Yang YC and Yin T.
  TITLE     Interleukin-11 and its receptor
  JOURNAL   Biofactors 4 (1), 15-21 (1992)
   PUBMED   1292471
  REMARK    Review article
REFERENCE   8  (bases 1 to 2378)
  AUTHORS   McKinley D, Wu Q, Yang-Feng T and Yang YC.
  TITLE     Genomic sequence and chromosomal location of human interleukin-11
            gene (IL11)
  JOURNAL   Genomics 13 (3), 814-819 (1992)
   PUBMED   1386338
REFERENCE   9  (bases 1 to 2378)
  AUTHORS   Kawashima I, Ohsumi J, Mita-Honjo K, Shimoda-Takano K, Ishikawa H,
            Sakakibara S, Miyadai K and Takiguchi Y.
  TITLE     Molecular cloning of cDNA encoding adipogenesis inhibitory factor
            and identity with interleukin-11
  JOURNAL   FEBS Lett 283 (2), 199-202 (1991)
   PUBMED   1828438
REFERENCE   10  (bases 1 to 2378)
  AUTHORS   Paul SR, Bennett F, Calvetti JA, Kelleher K, Wood CR, O'Hara RM Jr,
            Leary AC, Sibley B, Clark SC, Williams DA et al.
  TITLE     Molecular cloning of a cDNA encoding interleukin 11, a stromal
            cell-derived lymphopoietic and hematopoietic cytokine
  JOURNAL   Proc Natl Acad Sci U S A 87 (19), 7512-7516 (1990)
   PUBMED   2145578
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK290572.1, X58377.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000264563.7/ ENSP00000264563.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315294.1, AC020922.9 and
            BF055151.1.
            On Nov 22, 2018 this sequence version replaced NM_000641.3.
            Summary: The protein encoded by this gene is a member of the gp130
            family of cytokines. These cytokines drive the assembly of
            multisubunit receptor complexes, all of which contain at least one
            molecule of the transmembrane signaling receptor IL6ST (gp130).
            This cytokine is shown to stimulate the T-cell-dependent
            development of immunoglobulin-producing B cells. It is also found
            to support the proliferation of hematopoietic stem cells and
            megakaryocyte progenitor cells. Alternatively spliced transcript
            variants encoding distinct isoforms have been found for this gene.
            [provided by RefSeq, Jun 2012].
            Transcript Variant: This variant (1) is the longer transcript and
            encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2378
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..2378
                     /gene="IL11"
                     /gene_synonym="AGIF; IL-11"
                     /note="interleukin 11"
                     /db_xref="GeneID:3589"
                     /db_xref="HGNC:HGNC:5966"
                     /db_xref="MIM:147681"
     CDS             154..753
                     /gene="IL11"
                     /gene_synonym="AGIF; IL-11"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; adipogenesis inhibitory factor; oprelvekin"
                     /codon_start=1
                     /product="interleukin-11 isoform 1 precursor"
                     /protein_id="NP_000632.1"
                     /db_xref="CCDS:CCDS12923.1"
                     /db_xref="GeneID:3589"
                     /db_xref="HGNC:HGNC:5966"
                     /db_xref="MIM:147681"
                     /translation="MNCVCRLVLVVLSLWPDTAVAPGPPPGPPRVSPDPRAELDSTVLL
                     TRSLLADTRQLAAQLRDKFPADGDHNLDSLPTLAMSAGALGALQLPGVLTRLRADLLSY
                     LRHVQWLRRAGGSSLKTLEPELGTLQARLDRLLRRLQLLMSRLALPQPPPDPPAPPLAP
                     PSSAWGGIRAAHAILGGLHLTLDWAVRGLLLLKTRL"
     sig_peptide     154..216
                     /gene="IL11"
                     /gene_synonym="AGIF; IL-11"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     217..750
                     /gene="IL11"
                     /gene_synonym="AGIF; IL-11"
                     /product="Interleukin-11. /id=PRO_0000015618"
                     /note="propagated from UniProtKB/Swiss-Prot (P20809.1)"
     misc_feature    655..657
                     /gene="IL11"
                     /gene_synonym="AGIF; IL-11"
                     /note="Important for interaction with IL6ST and for the
                     stimulation of cell proliferation.
                     /evidence=ECO:0000250|UniProtKB:P47873; propagated from
                     UniProtKB/Swiss-Prot (P20809.1); other site"
     misc_feature    697..723
                     /gene="IL11"
                     /gene_synonym="AGIF; IL-11"
                     /note="propagated from UniProtKB/Swiss-Prot (P20809.1);
                     Region: Important for interaction with IL11RA and for the
                     stimulation of cell proliferation. /evidence=ECO:0000305"
     regulatory      1181..1186
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL11"
                     /gene_synonym="AGIF; IL-11"
                     /note="hexamer: ATTAAA"
     polyA_site      1203
                     /gene="IL11"
                     /gene_synonym="AGIF; IL-11"
                     /note="major polyA site"
     regulatory      2351..2356
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL11"
                     /gene_synonym="AGIF; IL-11"
                     /note="hexamer: AATAAA"
     polyA_site      2378
                     /gene="IL11"
                     /gene_synonym="AGIF; IL-11"
ORIGIN
        1 actgccgcgg ccctgctgct cagggcacat gcctcccctc cccaggccgc ggcccagctg
       61 accctcgggg ctcccccggc agcggacagg gaagggttaa aggcccccgg ctccctgccc
      121 cctgccctgg ggaacccctg gccctgtggg gacatgaact gtgtttgccg cctggtcctg
      181 gtcgtgctga gcctgtggcc agatacagct gtcgcccctg ggccaccacc tggcccccct
      241 cgagtttccc cagaccctcg ggccgagctg gacagcaccg tgctcctgac ccgctctctc
      301 ctggcggaca cgcggcagct ggctgcacag ctgagggaca aattcccagc tgacggggac
      361 cacaacctgg attccctgcc caccctggcc atgagtgcgg gggcactggg agctctacag
      421 ctcccaggtg tgctgacaag gctgcgagcg gacctactgt cctacctgcg gcacgtgcag
      481 tggctgcgcc gggcaggtgg ctcttccctg aagaccctgg agcccgagct gggcaccctg
      541 caggcccgac tggaccggct gctgcgccgg ctgcagctcc tgatgtcccg cctggccctg
      601 ccccagccac ccccggaccc gccggcgccc ccgctggcgc ccccctcctc agcctggggg
      661 ggcatcaggg ccgcccacgc catcctgggg gggctgcacc tgacacttga ctgggccgtg
      721 aggggactgc tgctgctgaa gactcggctg tgacccgggg cccaaagcca ccaccgtcct
      781 tccaaagcca gatcttattt atttatttat ttcagtactg ggggcgaaac agccaggtga
      841 tccccccgcc attatctccc cctagttaga gacagtcctt ccgtgaggcc tggggggcat
      901 ctgtgcctta tttatactta tttatttcag gagcaggggt gggaggcagg tggactcctg
      961 ggtccccgag gaggagggga ctggggtccc ggattcttgg gtctccaaga agtctgtcca
     1021 cagacttctg ccctggctct tccccatcta ggcctgggca ggaacatata ttatttattt
     1081 aagcaattac ttttcatgtt ggggtgggga cggaggggaa agggaagcct gggtttttgt
     1141 acaaaaatgt gagaaacctt tgtgagacag agaacaggga attaaatgtg tcatacatat
     1201 ccacttgagg gcgatttgtc tgagagctgg ggctggatgc ttgggtaact ggggcagggc
     1261 aggtggaggg gagacctcca ttcaggtgga ggtcccgagt gggcggggca gcgactggga
     1321 gatgggtcgg tcacccagac agctctgtgg aggcagggtc tgagccttgc ctggggcccc
     1381 gcactgcata gggccttttg tttgtttttt gagatggagt ctcgctctgt tgcctaggct
     1441 ggagtgcagt gaggcaatct gaggtcactg caacctccac ctcccgggtt caagcaattc
     1501 tcctgcctca gcctcccgat tagctgggat cacaggtgtg caccaccatg cccagctaat
     1561 tatttatttc ttttgtattt ttagtagaga cagggtttca ccatgttggc caggctggtt
     1621 tcgaactcct gacctcaggt gatcctcctg cctcggcctc ccaaagtgct gggattacag
     1681 gtgtgagcca ccacacctga cccataggtc ttcaataaat atttaatgga aggttccaca
     1741 agtcaccctg tgatcaacag tacccgtatg ggacaaagct gcaaggtcaa gatggttcat
     1801 tatggctgtg ttcaccatag caaactggaa acaatctaga tatccaacag tgagggttaa
     1861 gcaacatggt gcatctgtgg atagaacgcc acccagccgc ccggagcagg gactgtcatt
     1921 cagggaggct aaggagagag gcttgcttgg gatatagaaa gatatcctga cattggccag
     1981 gcatggtggc tcacgcctgt aatcctggca ctttgggagg acgaagcgag tggatcactg
     2041 aagtccaaga gttcgagacc ggcctgcgag acatggcaaa accctgtctc aaaaaagaaa
     2101 gaatgatgtc ctgacatgaa acagcaggct acaaaaccac tgcatgctgt gatcccaatt
     2161 ttgtgttttt ctttctatat atggattaaa acaaaaatcc taaagggaaa tacgccaaaa
     2221 tgttgacaat gactgtctcc aggtcaaagg agagaggtgg gattgtgggt gacttttaat
     2281 gtgtatgatt gtctgtattt tacagaattt ctgccatgac tgtgtatttt gcatgacaca
     2341 ttttaaaaat aataaacact atttttagaa taacagaa
//
LOCUS       NM_000642               7091 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens amylo-alpha-1, 6-glucosidase,
            4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.
ACCESSION   NM_000642
VERSION     NM_000642.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7091)
  AUTHORS   Perveen S, Gupta N, Kumar M, Kaur P, Chowdhury MR and Kabra M.
  TITLE     Spectrum of amyloglucosidase mutations in Asian Indian patients with
            Glycogen storage disease type III
  JOURNAL   Am J Med Genet A 182 (5), 1190-1200 (2020)
   PUBMED   32222031
  REMARK    GeneRIF: Spectrum of amyloglucosidase mutations in Asian Indian
            patients with Glycogen storage disease type III.
REFERENCE   2  (bases 1 to 7091)
  AUTHORS   Abdullah IS, Teh SH, Khaidizar FD, Ngu LH, Keng WT, Yap S and
            Mohamed Z.
  TITLE     Intron retention is among six unreported AGL mutations identified in
            Malaysian GSD III patients
  JOURNAL   Genes Genomics 41 (8), 885-893 (2019)
   PUBMED   31028654
  REMARK    GeneRIF: Six novel mutations were identified in GSD III patients.
REFERENCE   3  (bases 1 to 7091)
  AUTHORS   Nazari F, Sinaei F, Nilipour Y, Petit F, Oveisgharan S,
            Nassiri-Toosi M, Razzaghy-Azar M, Mahmoudi M and Nafissi S.
  TITLE     Distinct Clinical and Genetic Findings in Iranian Patients With
            Glycogen Storage Disease Type 3
  JOURNAL   J Clin Neuromuscul Dis 19 (4), 203-210 (2018)
   PUBMED   29794575
  REMARK    GeneRIF: This report of patients with GSD-III in Iran with 2
            uncommon clinical presentations and 5 novel mutations in the AGL
            gene.
REFERENCE   4  (bases 1 to 7091)
  AUTHORS   Lu C, Qiu Z, Sun M, Wang W, Wei M and Zhang X.
  TITLE     Spectrum of AGL mutations in Chinese patients with glycogen storage
            disease type III: identification of 31 novel mutations
  JOURNAL   J Hum Genet 61 (7), 641-645 (2016)
   PUBMED   26984562
  REMARK    GeneRIF: The study identified 31 novel mutations and extended the
            mutation spectrum of AGL in Chinese patients with glycogen storage
            disease type III.
REFERENCE   5  (bases 1 to 7091)
  AUTHORS   Massari F, Ciccarese C, Santoni M, Iacovelli R, Mazzucchelli R, Piva
            F, Scarpelli M, Berardi R, Tortora G, Lopez-Beltran A, Cheng L and
            Montironi R.
  TITLE     Metabolic phenotype of bladder cancer
  JOURNAL   Cancer Treat Rev 45, 46-57 (2016)
   PUBMED   26975021
  REMARK    GeneRIF: AGL loss causes high SHMT2 expression and consequently
            increases glycine-dependent nucleotide synthesis leading to bladder
            cancer growth. Review article
REFERENCE   6  (bases 1 to 7091)
  AUTHORS   Schreuder,A.B., Rossi,A., Grunert,S.C. and Derks,T.G.J.
  TITLE     Glycogen Storage Disease Type III
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301788
REFERENCE   7  (bases 1 to 7091)
  AUTHORS   Yang-Feng TL, Zheng K, Yu J, Yang BZ, Chen YT and Kao FT.
  TITLE     Assignment of the human glycogen debrancher gene to chromosome 1p21
  JOURNAL   Genomics 13 (4), 931-934 (1992)
   PUBMED   1505983
REFERENCE   8  (bases 1 to 7091)
  AUTHORS   Yang BZ, Ding JH, Enghild JJ, Bao Y and Chen YT.
  TITLE     Molecular cloning and nucleotide sequence of cDNA encoding human
            muscle glycogen debranching enzyme
  JOURNAL   J Biol Chem 267 (13), 9294-9299 (1992)
   PUBMED   1374391
REFERENCE   9  (bases 1 to 7091)
  AUTHORS   Ding JH, de Barsy T, Brown BI, Coleman RA and Chen YT.
  TITLE     Immunoblot analyses of glycogen debranching enzyme in different
            subtypes of glycogen storage disease type III
  JOURNAL   J Pediatr 116 (1), 95-100 (1990)
   PUBMED   2295969
REFERENCE   10  (bases 1 to 7091)
  AUTHORS   Katsarkas,A. and Younge,B.R.
  TITLE     Electronystagmographic findings in cerebellar dysfunction
  JOURNAL   J Otolaryngol 5 (2), 143-153 (1976)
   PUBMED   933239
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U84007.1, SRR1660809.258405.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000361915.8/ ENSP00000355106.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U84007.1, BC078663.1,
            AC096949.2 and AK130308.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000642.2.
            Summary: This gene encodes the glycogen debrancher enzyme which is
            involved in glycogen degradation. This enzyme has two independent
            catalytic activities which occur at different sites on the protein:
            a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase
            activity. Mutations in this gene are associated with glycogen
            storage disease although a wide range of enzymatic and clinical
            variability occurs which may be due to tissue-specific alternative
            splicing. Alternatively spliced transcripts encoding different
            isoforms have been described. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) differs in the 5' UTR,
            compared to variant 4. Variants 1, 2, 3 and 4 encode the same
            isoform (isoform 1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7091
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.2"
     gene            1..7091
                     /gene="AGL"
                     /gene_synonym="GDE"
                     /note="amylo-alpha-1, 6-glucosidase,
                     4-alpha-glucanotransferase"
                     /db_xref="GeneID:178"
                     /db_xref="HGNC:HGNC:321"
                     /db_xref="MIM:610860"
     misc_feature    94..96
                     /gene="AGL"
                     /gene_synonym="GDE"
                     /note="upstream in-frame stop codon"
     CDS             124..4722
                     /gene="AGL"
                     /gene_synonym="GDE"
                     /EC_number="2.4.1.25"
                     /EC_number="3.2.1.33"
                     /note="isoform 1 is encoded by transcript variant 1;
                     amylo-1, 6-glucosidase, 4-alpha-glucanotransferase;
                     glycogen debranching enzyme; glycogen debrancher;
                     amylo-alpha-1, 6-glucosidase,
                     4-alpha-glucanotransferaseprovided; glycogen debranching
                     protein"
                     /codon_start=1
                     /product="glycogen debranching enzyme isoform 1"
                     /protein_id="NP_000633.2"
                     /db_xref="CCDS:CCDS759.1"
                     /db_xref="GeneID:178"
                     /db_xref="HGNC:HGNC:321"
                     /db_xref="MIM:610860"
                     /translation="MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVT
                     VYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGG
                     GYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPL
                     QTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVVYNHTA
                     ANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHM
                     NSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPE
                     YRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNC
                     LLGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAH
                     NGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITA
                     TYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSL
                     IREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHR
                     SAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNF
                     QSGIIAARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRN
                     PKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQL
                     NESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFS
                     PHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESEEKEDGGGCYDIPNWSA
                     LKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQ
                     AMFFYLKQIPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLC
                     GVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIAL
                     RGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCK
                     MVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQGIQFRERNAGPQ
                     IDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAV
                     EIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSE
                     DPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALE
                     IAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRA
                     KLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFSCETQAW
                     SIATILETLYDL"
     misc_feature    313..315
                     /gene="AGL"
                     /gene_synonym="GDE"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P35573.3); phosphorylation site"
     regulatory      7069..7074
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGL"
                     /gene_synonym="GDE"
                     /note="hexamer: AATAAA"
     polyA_site      7091
                     /gene="AGL"
                     /gene_synonym="GDE"
                     /note="major polyA site"
ORIGIN
        1 accagagtcg cgggtcctgc agtgccccag aagccgcacg tataactccc tcggcgggta
       61 actcattcga ctgtggagtt cttttaattc ttatgaaaga tttcaaatcc tctagaagcc
      121 aaaatgggac acagtaaaca gattcgaatt ttacttctga acgaaatgga gaaactggaa
      181 aagaccctct tcagacttga acaagggtat gagctacagt tccgattagg cccaacttta
      241 cagggaaaag cagttaccgt gtatacaaat tacccatttc ctggagaaac atttaataga
      301 gaaaaattcc gttctctgga ttgggaaaat ccaacagaaa gagaagatga ttctgataaa
      361 tactgtaaac ttaatctgca acaatctggt tcatttcagt attatttcct tcaaggaaat
      421 gagaaaagtg gtggaggtta catagttgtg gaccccattt tacgtgttgg tgctgataat
      481 catgtgctac ccttggactg tgttactctt cagacatttt tagctaagtg tttgggacct
      541 tttgatgaat gggaaagcag acttagggtt gcaaaagaat caggctacaa catgattcat
      601 tttaccccat tgcagactct tggactatct aggtcatgct actcccttgc caatcagtta
      661 gaattaaatc ctgacttttc aagacctaat agaaagtata cctggaatga tgttggacag
      721 ctagtggaaa aattaaaaaa ggaatggaat gttatttgta ttactgatgt tgtctacaat
      781 catactgctg ctaatagtaa atggatccag gaacatccag aatgtgccta taatcttgtg
      841 aattctccac acttaaaacc tgcctgggtc ttagacagag cactttggcg tttctcctgt
      901 gatgttgcag aagggaaata caaagaaaag ggaatacctg ctttgattga aaatgatcac
      961 catatgaatt ccatccgaaa aataatttgg gaggatattt ttccaaagct taaactctgg
     1021 gaatttttcc aagtagatgt caacaaagcg gttgagcaat ttagaagact tcttacacaa
     1081 gaaaataggc gagtaaccaa gtctgatcca aaccaacacc ttacgattat tcaagatcct
     1141 gaatacagac ggtttggctg tactgtagat atgaacattg cactaacgac tttcatacca
     1201 catgacaagg ggccagcagc aattgaagaa tgctgtaatt ggtttcataa aagaatggag
     1261 gaattaaatt cagagaagca tcgactcatt aactatcatc aggaacaggc agttaattgc
     1321 cttttgggaa atgtgtttta tgaacgactg gctggccatg gtccaaaact aggacctgtc
     1381 actagaaagc atcctttagt taccaggtat tttactttcc catttgaaga gatagacttc
     1441 tccatggaag aatctatgat tcatctgcca aataaagctt gttttctgat ggcacacaat
     1501 ggatgggtaa tgggagatga tcctcttcga aactttgctg aaccgggttc agaagtttac
     1561 ctaaggagag aacttatttg ctggggagac agtgttaaat tacgctatgg gaataaacca
     1621 gaggactgtc cttatctctg ggcacacatg aaaaaataca ctgaaataac tgcaacttat
     1681 ttccagggag tacgtcttga taactgccac tcaacacctc ttcacgtagc tgagtacatg
     1741 ttggatgctg ctaggaattt gcaacccaat ttatatgtag tagctgaact gttcacagga
     1801 agtgaagatc tggacaatgt ctttgttact agactgggca ttagttcctt aataagagag
     1861 gcaatgagtg catataatag tcatgaagag ggcagattag tttaccgata tggaggagaa
     1921 cctgttggat cctttgttca gccctgtttg aggcctttaa tgccagctat tgcacatgcc
     1981 ctgtttatgg atattacgca tgataatgag tgtcctattg tgcatagatc agcgtatgat
     2041 gctcttccaa gtactacaat tgtttctatg gcatgttgtg ctagtggaag tacaagaggc
     2101 tatgatgaat tagtgcctca tcagatttca gtggtttctg aagaacggtt ttacactaag
     2161 tggaatcctg aagcattgcc ttcaaacaca ggtgaagtta atttccaaag cggcattatt
     2221 gcagccaggt gtgctatcag taaacttcat caggagcttg gagccaaggg ttttattcag
     2281 gtgtatgtgg atcaagttga tgaagacata gtggcagtaa caagacactc acctagcatc
     2341 catcagtctg ttgtggctgt atctagaact gctttcagga atcccaagac ttcattttac
     2401 agcaaggaag tgcctcaaat gtgcatccct ggcaaaattg aagaagtagt tcttgaagct
     2461 agaactattg agagaaacac gaaaccttat aggaaggatg agaattcaat caatggaaca
     2521 ccagatatca cagtagaaat tagagaacat attcagctta atgaaagtaa aattgttaaa
     2581 caagctggag ttgccacaaa agggcccaat gaatatattc aagaaataga atttgaaaac
     2641 ttgtctccag gaagtgttat tatattcaga gttagtcttg atccacatgc acaagtcgct
     2701 gttggaattc ttcgaaatca tctgacacaa ttcagtcctc actttaaatc tggcagccta
     2761 gctgttgaca atgcagatcc tatattaaaa attccttttg cttctcttgc ctccagatta
     2821 actttggctg agctaaatca gatcctttac cgatgtgaat cagaagaaaa ggaagatggt
     2881 ggagggtgct atgacatacc aaactggtca gcccttaaat atgcaggtct tcaaggttta
     2941 atgtctgtat tggcagaaat aagaccaaag aatgacttgg ggcatccttt ttgtaataat
     3001 ttgagatctg gagattggat gattgactat gtcagtaacc ggcttatttc acgatcagga
     3061 actattgctg aagttggtaa atggttgcag gctatgttct tctacctgaa gcagatccca
     3121 cgttacctta tcccatgtta ctttgatgct atattaattg gtgcatatac cactcttctg
     3181 gatacagcat ggaagcagat gtcaagcttt gttcagaatg gttcaacctt tgtgaaacac
     3241 ctttcattgg gttcagttca actgtgtgga gtaggaaaat tcccttccct gccaattctt
     3301 tcacctgccc taatggatgt accttatagg ttaaatgaga tcacaaaaga aaaggagcaa
     3361 tgttgtgttt ctctagctgc aggcttacct catttttctt ctggtatttt ccgctgctgg
     3421 ggaagggata cttttattgc acttagaggt atactgctga ttactggacg ctatgtagaa
     3481 gccaggaata ttattttagc atttgcgggt accctgaggc atggtctcat tcctaatcta
     3541 ctgggtgaag gaatttatgc cagatacaat tgtcgggatg ctgtgtggtg gtggctgcag
     3601 tgtatccagg attactgtaa aatggttcca aatggtctag acattctcaa gtgcccagtt
     3661 tccagaatgt atcctacaga tgattctgct cctttgcctg ctggcacact ggatcagcca
     3721 ttgtttgaag tcatacagga agcaatgcaa aaacacatgc agggcataca gttccgagaa
     3781 aggaatgctg gtccccagat agatcgaaac atgaaggacg aaggttttaa tataactgca
     3841 ggagttgatg aagaaacagg atttgtttat ggaggaaatc gtttcaattg tggcacatgg
     3901 atggataaaa tgggagaaag tgacagagct agaaacagag gaatcccagc cacaccaaga
     3961 gatgggtctg ctgtggaaat tgtgggcctg agtaaatctg ctgttcgctg gttgctggaa
     4021 ttatccaaaa aaaatatttt cccttatcat gaagtcacag taaaaagaca tggaaaggct
     4081 ataaaggtct catatgatga gtggaacaga aaaatacaag acaactttga aaagctattt
     4141 catgtttccg aagacccttc agatttaaat gaaaagcatc caaatctggt tcacaaacgt
     4201 ggcatataca aagatagtta tggagcttca agtccttggt gtgactatca gctcaggcct
     4261 aattttacca tagcaatggt tgtggcccct gagctcttta ctacagaaaa agcatggaaa
     4321 gctttggaga ttgcagaaaa aaaattgctt ggtccccttg gcatgaaaac tttagatcca
     4381 gatgatatgg tttactgtgg aatttatgac aatgcattag acaatgacaa ctacaatctt
     4441 gctaaaggtt tcaattatca ccaaggacct gagtggctgt ggcctattgg gtattttctt
     4501 cgtgcaaaat tatatttttc cagattgatg ggcccggaga ctactgcaaa gactatagtt
     4561 ttggttaaaa atgttctttc ccgacattat gttcatcttg agagatcccc ttggaaagga
     4621 cttccagaac tgaccaatga gaatgcccag tactgtcctt tcagctgtga aacacaagcc
     4681 tggtcaattg ctactattct tgagacactt tatgatttat agtttattac agatattaag
     4741 tatgcaatta cttgtattat aggatgcaag gtcatcatat gtaaatgcct tatatgcaca
     4801 ggctcaagtt gttttaaaaa tctcatttat tataatattg atgctcaatt aggtaagatt
     4861 gtaaaagcat tgattttttt taatgtacag aggtagattt caatttgaat cagaaagaaa
     4921 tatcattacc aatgaaatgt gtttgagttc agtaagaatt attcaaatgc ctagaaatcc
     4981 atagtttgga aaagaaaaat catgtcatct tctatttgta cagaaatgaa aataaaatat
     5041 gaaaataatg aaagaaatga aaagatagct tttaattgtg gtatatataa tcttcagtaa
     5101 caatacatac tgaatacgct gtggttcatt aatattaaca ccacgtacta tagtattctt
     5161 aatacagtgc tcactgcatt taataaatat ttaataaatg atgaatgata gaagtttcca
     5221 tctacaatat atgttcctaa atggagcaca gatgttcaaa ctatgctttc attttttcac
     5281 tgatatatta atttttgtgt aatgaatgcc aacagtatat tttatatgat ttacttatgt
     5341 gaggaaacat gcaaagcatt aggaaattta tttcctaaaa acagttttgt aaaattagta
     5401 ttgagttcta ttgagtatta taagatagct tacattttca aaatggaaat tgtcggtcat
     5461 atttctagaa ctttaaagaa aaaagaatgt tatattagtt ttctaaaact caactatctt
     5521 tagtcatgtt caaaaatcta ttgctagatc atagtagata ctggttttct attaactcaa
     5581 aacctacatt gacaagttta acattgagaa gaatcttaac aaaaatatgg atatgaattc
     5641 agtagatatc ttaaattcaa taaaatcact ggaagttttt catgataact tattttaaga
     5701 tgccttaaaa atcttaaagt cacaaaagga aaaaggtttt taacatttac atgagttaac
     5761 attttttcat agaacttatt tcctagatag aattttttac tgttttttac tgttttctta
     5821 agaaaacagt taaatcatta tgcattcagt tggaagaaag tagtggcaag aattctttca
     5881 ttgctatata atattcagtg gctcatttat acctaataaa ataatggtat tttaaaataa
     5941 tgctactttc aaagtagcat ttttttagtt agtttacagg ttacataccc aaaaccttaa
     6001 ctatgactaa gaaattaaag aagaaaacca gcaaactaaa acttctgggc agcaaaaata
     6061 tataaatgct tcagatgtca aatacccatg cttgaaagct cgtgtaattt actttaagat
     6121 tatctgcctg ctcttcttca aagctgacct tgctttagaa atagttttaa ctagcttagt
     6181 tttctggttt ccaaaactaa aatagattaa atcctacaaa tttaaggaca gttgtgacag
     6241 taatctgacc actatctata aatacattgg acattggttt ccaaatctcc ctttcttctt
     6301 cagttccttc cttgttcaat atataccctt ctctaaactg tgcgggtaaa aggaatgact
     6361 gtccttgaga gaaccattag tttatcaaag gtttatgtag ttttgttgct gtaccctaac
     6421 tttgatattc agggaggtag gaaaggtaac agaaaaccag catatttaat caaagcaaga
     6481 agtaatcgct gacagttaaa tgtgaccaaa aaaattaaaa gttcacaatt tttttaatgt
     6541 agccatttgg ggttatctct agtaaggcag atacccacgt tggtaaattt ttaggatatt
     6601 gtgttgcact agaaaactaa gtggttcata tttctaatga ggaagattaa tgaaagaaca
     6661 ttgttatatt ctgcgtggta tattttaaag tttaagaagg catgttaaac attatttcct
     6721 ctatggtagt taaaatacag aattagattt ttaacaggtg tcatttgact aaacgtttcg
     6781 gtagaatgct tcatacttga gtgatgctgg ataaggtatt gtatttcaac aatggactat
     6841 gccttggttt ttcactaatc aaaatcaaaa ttactcttta acatgataaa tgaatttacc
     6901 agtttagtat gctgtggtat tttaataagt tttcaaagat aattgggaaa acatgagact
     6961 ggtcatattg atgaatattg taacatgtga attgtgatcc atttctgata tgtcttgaac
     7021 tactgtgtct agtgggcaaa tgtcattgtt acctctgtgt gttaagaaaa taaaaatatt
     7081 ttctaaaggt c
//
LOCUS       NM_000651               9937 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens complement C3b/C4b receptor 1 (Knops blood group)
            (CR1), transcript variant S, mRNA.
ACCESSION   NM_000651
VERSION     NM_000651.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9937)
  AUTHORS   Wu PC, Lee YQ, Moller M, Storry JR and Olsson ML.
  TITLE     Elucidation of the low-expressing erythroid CR1 phenotype by
            bioinformatic mining of the GATA1-driven blood-group regulome
  JOURNAL   Nat Commun 14 (1), 5001 (2023)
   PUBMED   37591894
  REMARK    GeneRIF: Elucidation of the low-expressing erythroid CR1 phenotype
            by bioinformatic mining of the GATA1-driven blood-group regulome.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 9937)
  AUTHORS   Covas DT, de Oliveira FS, Rodrigues ES, Abe-Sandes K, Silva WA Jr
            and Fontes AM.
  TITLE     Knops blood group haplotypes among distinct Brazilian populations
  JOURNAL   Transfusion 47 (1), 147-153 (2007)
   PUBMED   17207243
REFERENCE   3  (bases 1 to 9937)
  AUTHORS   Xiang L, Rundles JR, Hamilton DR and Wilson JG.
  TITLE     Quantitative alleles of CR1: coding sequence analysis and comparison
            of haplotypes in two ethnic groups
  JOURNAL   J Immunol 163 (9), 4939-4945 (1999)
   PUBMED   10528197
REFERENCE   4  (bases 1 to 9937)
  AUTHORS   Herrera AH, Xiang L, Martin SG, Lewis J and Wilson JG.
  TITLE     Analysis of complement receptor type 1 (CR1) expression on
            erythrocytes and of CR1 allelic markers in Caucasian and African
            American populations
  JOURNAL   Clin Immunol Immunopathol 87 (2), 176-183 (1998)
   PUBMED   9614933
REFERENCE   5  (bases 1 to 9937)
  AUTHORS   Petty AC, Green CA, Poole J and Daniels GL.
  TITLE     Analysis of Knops blood group antigens on CR1 (CD35) by the MAIEA
            test and by immunoblotting
  JOURNAL   Transfus Med 7 (1), 55-62 (1997)
   PUBMED   9089986
REFERENCE   6  (bases 1 to 9937)
  AUTHORS   Vik DP and Wong WW.
  TITLE     Structure of the gene for the F allele of complement receptor type 1
            and sequence of the coding region unique to the S allele
  JOURNAL   J Immunol 151 (11), 6214-6224 (1993)
   PUBMED   8245463
REFERENCE   7  (bases 1 to 9937)
  AUTHORS   Rao N, Ferguson DJ, Lee SF and Telen MJ.
  TITLE     Identification of human erythrocyte blood group antigens on the
            C3b/C4b receptor
  JOURNAL   J Immunol 146 (10), 3502-3507 (1991)
   PUBMED   1827486
REFERENCE   8  (bases 1 to 9937)
  AUTHORS   Moulds JM, Nickells MW, Moulds JJ, Brown MC and Atkinson JP.
  TITLE     The C3b/C4b receptor is recognized by the Knops, McCoy,
            Swain-langley, and York blood group antisera
  JOURNAL   J Exp Med 173 (5), 1159-1163 (1991)
   PUBMED   1708809
REFERENCE   9  (bases 1 to 9937)
  AUTHORS   Wong WW and Farrell SA.
  TITLE     Proposed structure of the F' allotype of human CR1. Loss of a C3b
            binding site may be associated with altered function
  JOURNAL   J Immunol 146 (2), 656-662 (1991)
   PUBMED   1670949
REFERENCE   10  (bases 1 to 9937)
  AUTHORS   Hourcade D, Miesner DR, Bee C, Zeldes W and Atkinson JP.
  TITLE     Duplication and divergence of the amino-terminal coding region of
            the complement receptor 1 (CR1) gene. An example of concerted
            (horizontal) evolution within a gene
  JOURNAL   J Biol Chem 265 (2), 974-980 (1990)
   PUBMED   2295627
COMMENT     ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: downstream AUG is associated
            with N-terminal localization signal
            MANE Ensembl match :: ENST00000367049.9/ ENSP00000356016.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL691452.10 and AL137789.11.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 27, 2019 this sequence version replaced NM_000651.5.
            Summary: This gene is a member of the receptors of complement
            activation (RCA) family and is located in the 'cluster RCA' region
            of chromosome 1. The genome is polymorphic at this locus with
            allele-specific splice variants encoding different isoforms, based
            on the presence/absence of long homologous repeats (LHRs). The gene
            encodes a monomeric single-pass type I membrane glycoprotein found
            on erythrocytes, leukocytes, glomerular podocytes, and splenic
            follicular dendritic cells. The Knops blood group system is a
            system of antigens located on this protein. The protein mediates
            cellular binding to particles and immune complexes that have
            activated complement. Decreases in expression of this protein
            and/or mutations in this gene have been associated with gallbladder
            carcinomas, mesangiocapillary glomerulonephritis, systemic lupus
            erythematosus, sarcoidosis and Alzheimer's disease. Mutations in
            this gene have also been associated with a reduction in Plasmodium
            falciparum rosetting, conferring protection against severe malaria.
            [provided by RefSeq, May 2020].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..9937
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.2"
     gene            1..9937
                     /gene="CR1"
                     /gene_synonym="C3BR; C4BR; CD35; KN"
                     /note="complement C3b/C4b receptor 1 (Knops blood group)"
                     /db_xref="GeneID:1378"
                     /db_xref="HGNC:HGNC:2334"
                     /db_xref="MIM:120620"
     misc_feature    94..96
                     /gene="CR1"
                     /gene_synonym="C3BR; C4BR; CD35; KN"
                     /note="upstream in-frame stop codon"
     misc_feature    97..99
                     /gene="CR1"
                     /gene_synonym="C3BR; C4BR; CD35; KN"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MCLGR"
     CDS             112..7581
                     /gene="CR1"
                     /gene_synonym="C3BR; C4BR; CD35; KN"
                     /note="isoform S precursor is encoded by transcript variant
                     S; C3-binding protein; CD35 antigen; complement receptor
                     type 1; C3b/C4b receptor; Knops blood group antigen;
                     complement component (3b/4b) receptor 1 (Knops blood
                     group); complement receptor 1"
                     /codon_start=1
                     /product="complement receptor type 1 isoform S precursor"
                     /protein_id="NP_000642.3"
                     /db_xref="CCDS:CCDS44308.1"
                     /db_xref="GeneID:1378"
                     /db_xref="HGNC:HGNC:2334"
                     /db_xref="MIM:120620"
                     /translation="MGASSPRSPEPVGPPAPGLPFCCGGSLLAVVVLLALPVAWGQCNA
                     PEWLPFARPTNLTDEFEFPIGTYLNYECRPGYSGRPFSIICLKNSVWTGAKDRCRRKSC
                     RNPPDPVNGMVHVIKGIQFGSQIKYSCTKGYRLIGSSSATCIISGDTVIWDNETPICDR
                     IPCGLPPTITNGDFISTNRENFHYGSVVTYRCNPGSGGRKVFELVGEPSIYCTSNDDQV
                     GIWSGPAPQCIIPNKCTPPNVENGILVSDNRSLFSLNEVVEFRCQPGFVMKGPRRVKCQ
                     ALNKWEPELPSCSRVCQPPPDVLHAERTQRDKDNFSPGQEVFYSCEPGYDLRGAASMRC
                     TPQGDWSPAAPTCEVKSCDDFMGQLLNGRVLFPVNLQLGAKVDFVCDEGFQLKGSSASY
                     CVLAGMESLWNSSVPVCEQIFCPSPPVIPNGRHTGKPLEVFPFGKTVNYTCDPHPDRGT
                     SFDLIGESTIRCTSDPQGNGVWSSPAPRCGILGHCQAPDHFLFAKLKTQTNASDFPIGT
                     SLKYECRPEYYGRPFSITCLDNLVWSSPKDVCKRKSCKTPPDPVNGMVHVITDIQVGSR
                     INYSCTTGHRLIGHSSAECILSGNAAHWSTKPPICQRIPCGLPPTIANGDFISTNRENF
                     HYGSVVTYRCNPGSGGRKVFELVGEPSIYCTSNDDQVGIWSGPAPQCIIPNKCTPPNVE
                     NGILVSDNRSLFSLNEVVEFRCQPGFVMKGPRRVKCQALNKWEPELPSCSRVCQPPPDV
                     LHAERTQRDKDNFSPGQEVFYSCEPGYDLRGAASMRCTPQGDWSPAAPTCEVKSCDDFM
                     GQLLNGRVLFPVNLQLGAKVDFVCDEGFQLKGSSASYCVLAGMESLWNSSVPVCEQIFC
                     PSPPVIPNGRHTGKPLEVFPFGKTVNYTCDPHPDRGTSFDLIGESTIRCTSDPQGNGVW
                     SSPAPRCGILGHCQAPDHFLFAKLKTQTNASDFPIGTSLKYECRPEYYGRPFSITCLDN
                     LVWSSPKDVCKRKSCKTPPDPVNGMVHVITDIQVGSRINYSCTTGHRLIGHSSAECILS
                     GNAAHWSTKPPICQRIPCGLPPTIANGDFISTNRENFHYGSVVTYRCNPGSGGRKVFEL
                     VGEPSIYCTSNDDQVGIWSGPAPQCIIPNKCTPPNVENGILVSDNRSLFSLNEVVEFRC
                     QPGFVMKGPRRVKCQALNKWEPELPSCSRVCQPPPDVLHAERTQRDKDNFSPGQEVFYS
                     CEPGYDLRGAASMRCTPQGDWSPAAPTCEVKSCDDFMGQLLNGRVLFPVNLQLGAKVDF
                     VCDEGFQLKGSSASYCVLAGMESLWNSSVPVCEQIFCPSPPVIPNGRHTGKPLEVFPFG
                     KAVNYTCDPHPDRGTSFDLIGESTIRCTSDPQGNGVWSSPAPRCGILGHCQAPDHFLFA
                     KLKTQTNASDFPIGTSLKYECRPEYYGRPFSITCLDNLVWSSPKDVCKRKSCKTPPDPV
                     NGMVHVITDIQVGSRINYSCTTGHRLIGHSSAECILSGNTAHWSTKPPICQRIPCGLPP
                     TIANGDFISTNRENFHYGSVVTYRCNLGSRGRKVFELVGEPSIYCTSNDDQVGIWSGPA
                     PQCIIPNKCTPPNVENGILVSDNRSLFSLNEVVEFRCQPGFVMKGPRRVKCQALNKWEP
                     ELPSCSRVCQPPPEILHGEHTPSHQDNFSPGQEVFYSCEPGYDLRGAASLHCTPQGDWS
                     PEAPRCAVKSCDDFLGQLPHGRVLFPLNLQLGAKVSFVCDEGFRLKGSSVSHCVLVGMR
                     SLWNNSVPVCEHIFCPNPPAILNGRHTGTPSGDIPYGKEISYTCDPHPDRGMTFNLIGE
                     STIRCTSDPHGNGVWSSPAPRCELSVRAGHCKTPEQFPFASPTIPINDFEFPVGTSLNY
                     ECRPGYFGKMFSISCLENLVWSSVEDNCRRKSCGPPPEPFNGMVHINTDTQFGSTVNYS
                     CNEGFRLIGSPSTTCLVSGNNVTWDKKAPICEIISCEPPPTISNGDFYSNNRTSFHNGT
                     VVTYQCHTGPDGEQLFELVGERSIYCTSKDDQVGVWSSPPPRCISTNKCTAPEVENAIR
                     VPGNRSFFTLTEIIRFRCQPGFVMVGSHTVQCQTNGRWGPKLPHCSRVCQPPPEILHGE
                     HTLSHQDNFSPGQEVFYSCEPSYDLRGAASLHCTPQGDWSPEAPRCTVKSCDDFLGQLP
                     HGRVLLPLNLQLGAKVSFVCDEGFRLKGRSASHCVLAGMKALWNSSVPVCEQIFCPNPP
                     AILNGRHTGTPFGDIPYGKEISYACDTHPDRGMTFNLIGESSIRCTSDPQGNGVWSSPA
                     PRCELSVPAACPHPPKIQNGHYIGGHVSLYLPGMTISYICDPGYLLVGKGFIFCTDQGI
                     WSQLDHYCKEVNCSFPLFMNGISKELEMKKVYHYGDYVTLKCEDGYTLEGSPWSQCQAD
                     DRWDPPLAKCTSRTHDALIVGTLSGTIFFILLIIFLSWIILKHRKGNNAHENPKEVAIH
                     LHSQGGSSVHPRTLQTNEENSRVLP"
     sig_peptide     112..234
                     /gene="CR1"
                     /gene_synonym="C3BR; C4BR; CD35; KN"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      8790..8795
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CR1"
                     /gene_synonym="C3BR; C4BR; CD35; KN"
                     /note="hexamer: AATAAA"
     polyA_site      8816
                     /gene="CR1"
                     /gene_synonym="C3BR; C4BR; CD35; KN"
     regulatory      9911..9916
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CR1"
                     /gene_synonym="C3BR; C4BR; CD35; KN"
                     /note="hexamer: AATAAA"
     polyA_site      9937
                     /gene="CR1"
                     /gene_synonym="C3BR; C4BR; CD35; KN"
                     /note="major polyA site"
ORIGIN
        1 acactctggg cgcggagcac aatgattggt cactcctatt ttcgctgagc ttttcctctt
       61 atttcagttt tcttcgagat caaatctggt ttgtagatgt gcttggggag aatgggggcc
      121 tcttctccaa gaagcccgga gcctgtcggg ccgccggcgc ccggtctccc cttctgctgc
      181 ggaggatccc tgctggcggt tgtggtgctg cttgcgctgc cggtggcctg gggtcaatgc
      241 aatgccccag aatggcttcc atttgccagg cctaccaacc taactgatga atttgagttt
      301 cccattggga catatctgaa ctatgaatgc cgccctggtt attccggaag accgttttct
      361 atcatctgcc taaaaaactc agtctggact ggtgctaagg acaggtgcag acgtaaatca
      421 tgtcgtaatc ctccagatcc tgtgaatggc atggtgcatg tgatcaaagg catccagttc
      481 ggatcccaaa ttaaatattc ttgtactaaa ggataccgac tcattggttc ctcgtctgcc
      541 acatgcatca tctcaggtga tactgtcatt tgggataatg aaacacctat ttgtgacaga
      601 attccttgtg ggctaccccc caccatcacc aatggagatt tcattagcac caacagagag
      661 aattttcact atggatcagt ggtgacctac cgctgcaatc ctggaagcgg agggagaaag
      721 gtgtttgagc ttgtgggtga gccctccata tactgcacca gcaatgacga tcaagtgggc
      781 atctggagcg gccccgcccc tcagtgcatt atacctaaca aatgcacgcc tccaaatgtg
      841 gaaaatggaa tattggtatc tgacaacaga agcttatttt ccttaaatga agttgtggag
      901 tttaggtgtc agcctggctt tgtcatgaaa ggaccccgcc gtgtgaagtg ccaggccctg
      961 aacaaatggg agccggagct accaagctgc tccagggtat gtcagccacc tccagatgtc
     1021 ctgcatgctg agcgtaccca aagggacaag gacaactttt cacctgggca ggaagtgttc
     1081 tacagctgtg agcccggcta cgacctcaga ggggctgcgt ctatgcgctg cacaccccag
     1141 ggagactgga gccctgcagc ccccacatgt gaagtgaaat cctgtgatga cttcatgggc
     1201 caacttctta atggccgtgt gctatttcca gtaaatctcc agcttggagc aaaagtggat
     1261 tttgtttgtg atgaaggatt tcaattaaaa ggcagctctg ctagttactg tgtcttggct
     1321 ggaatggaaa gcctttggaa tagcagtgtt ccagtgtgtg aacaaatctt ttgtccaagt
     1381 cctccagtta ttcctaatgg gagacacaca ggaaaacctc tggaagtctt tccctttggg
     1441 aaaacagtaa attacacatg cgacccccac ccagacagag ggacgagctt cgacctcatt
     1501 ggagagagca ccatccgctg cacaagtgac cctcaaggga atggggtttg gagcagccct
     1561 gcccctcgct gtggaattct gggtcactgt caagccccag atcattttct gtttgccaag
     1621 ttgaaaaccc aaaccaatgc atctgacttt cccattggga catctttaaa gtacgaatgc
     1681 cgtcctgagt actacgggag gccattctct atcacatgtc tagataacct ggtctggtca
     1741 agtcccaaag atgtctgtaa acgtaaatca tgtaaaactc ctccagatcc agtgaatggc
     1801 atggtgcatg tgatcacaga catccaggtt ggatccagaa tcaactattc ttgtactaca
     1861 gggcaccgac tcattggtca ctcatctgct gaatgtatcc tctcgggcaa tgctgcccat
     1921 tggagcacga agccgccaat ttgtcaacga attccttgtg ggctaccccc caccatcgcc
     1981 aatggagatt tcattagcac caacagagag aattttcact atggatcagt ggtgacctac
     2041 cgctgcaatc ctggaagcgg agggagaaag gtgtttgagc ttgtgggtga gccctccata
     2101 tactgcacca gcaatgacga tcaagtgggc atctggagcg gcccggcccc tcagtgcatt
     2161 atacctaaca aatgcacgcc tccaaatgtg gaaaatggaa tattggtatc tgacaacaga
     2221 agcttatttt ccttaaatga agttgtggag tttaggtgtc agcctggctt tgtcatgaaa
     2281 ggaccccgcc gtgtgaagtg ccaggccctg aacaaatggg agccggagct accaagctgc
     2341 tccagggtat gtcagccacc tccagatgtc ctgcatgctg agcgtaccca aagggacaag
     2401 gacaactttt cacccgggca ggaagtgttc tacagctgtg agcccggcta cgacctcaga
     2461 ggggctgcgt ctatgcgctg cacaccccag ggagactgga gccctgcagc ccccacatgt
     2521 gaagtgaaat cctgtgatga cttcatgggc caacttctta atggccgtgt gctatttcca
     2581 gtaaatctcc agcttggagc aaaagtggat tttgtttgtg atgaaggatt tcaattaaaa
     2641 ggcagctctg ctagttactg tgtcttggct ggaatggaaa gcctttggaa tagcagtgtt
     2701 ccagtgtgtg aacaaatctt ttgtccaagt cctccagtta ttcctaatgg gagacacaca
     2761 ggaaaacctc tggaagtctt tccctttggg aaaacagtaa attacacatg cgacccccac
     2821 ccagacagag ggacgagctt cgacctcatt ggagagagca ccatccgctg cacaagtgac
     2881 cctcaaggga atggggtttg gagcagccct gcccctcgct gtggaattct gggtcactgt
     2941 caagccccag atcattttct gtttgccaag ttgaaaaccc aaaccaatgc atctgacttt
     3001 cccattggga catctttaaa gtacgaatgc cgtcctgagt actacgggag gccattctct
     3061 atcacatgtc tagataacct ggtctggtca agtcccaaag atgtctgtaa acgtaaatca
     3121 tgtaaaactc ctccagatcc agtgaatggc atggtgcatg tgatcacaga catccaggtt
     3181 ggatccagaa tcaactattc ttgtactaca gggcaccgac tcattggtca ctcatctgct
     3241 gaatgtatcc tctcgggcaa tgctgcccat tggagcacga agccgccaat ttgtcaacga
     3301 attccttgtg ggctaccccc caccatcgcc aatggagatt tcattagcac caacagagag
     3361 aattttcact atggatcagt ggtgacctac cgctgcaatc ctggaagcgg agggagaaag
     3421 gtgtttgagc ttgtgggtga gccctccata tactgcacca gcaatgacga tcaagtgggc
     3481 atctggagcg gcccggcccc tcagtgcatt atacctaaca aatgcacgcc tccaaatgtg
     3541 gaaaatggaa tattggtatc tgacaacaga agcttatttt ccttaaatga agttgtggag
     3601 tttaggtgtc agcctggctt tgtcatgaaa ggaccccgcc gtgtgaagtg ccaggccctg
     3661 aacaaatggg agccggagct accaagctgc tccagggtat gtcagccacc tccagatgtc
     3721 ctgcatgctg agcgtaccca aagggacaag gacaactttt cacccgggca ggaagtgttc
     3781 tacagctgtg agcccggcta tgacctcaga ggggctgcgt ctatgcgctg cacaccccag
     3841 ggagactgga gccctgcagc ccccacatgt gaagtgaaat cctgtgatga cttcatgggc
     3901 caacttctta atggccgtgt gctatttcca gtaaatctcc agcttggagc aaaagtggat
     3961 tttgtttgtg atgaaggatt tcaattaaaa ggcagctctg ctagttattg tgtcttggct
     4021 ggaatggaaa gcctttggaa tagcagtgtt ccagtgtgtg aacaaatctt ttgtccaagt
     4081 cctccagtta ttcctaatgg gagacacaca ggaaaacctc tggaagtctt tccctttgga
     4141 aaagcagtaa attacacatg cgacccccac ccagacagag ggacgagctt cgacctcatt
     4201 ggagagagca ccatccgctg cacaagtgac cctcaaggga atggggtttg gagcagccct
     4261 gcccctcgct gtggaattct gggtcactgt caagccccag atcattttct gtttgccaag
     4321 ttgaaaaccc aaaccaatgc atctgacttt cccattggga catctttaaa gtacgaatgc
     4381 cgtcctgagt actacgggag gccattctct atcacatgtc tagataacct ggtctggtca
     4441 agtcccaaag atgtctgtaa acgtaaatca tgtaaaactc ctccagatcc agtgaatggc
     4501 atggtgcatg tgatcacaga catccaggtt ggatccagaa tcaactattc ttgtactaca
     4561 gggcaccgac tcattggtca ctcatctgct gaatgtatcc tctcaggcaa tactgcccat
     4621 tggagcacga agccgccaat ttgtcaacga attccttgtg ggctaccccc aaccatcgcc
     4681 aatggagatt tcattagcac caacagagag aattttcact atggatcagt ggtgacctac
     4741 cgctgcaatc ttggaagcag agggagaaag gtgtttgagc ttgtgggtga gccctccata
     4801 tactgcacca gcaatgacga tcaagtgggc atctggagcg gccccgcccc tcagtgcatt
     4861 atacctaaca aatgcacgcc tccaaatgtg gaaaatggaa tattggtatc tgacaacaga
     4921 agcttatttt ccttaaatga agttgtggag tttaggtgtc agcctggctt tgtcatgaaa
     4981 ggaccccgcc gtgtgaagtg ccaggccctg aacaaatggg agccagagtt accaagctgc
     5041 tccagggtgt gtcagccgcc tccagaaatc ctgcatggtg agcatacccc aagccatcag
     5101 gacaactttt cacctgggca ggaagtgttc tacagctgtg agcctggcta tgacctcaga
     5161 ggggctgcgt ctctgcactg cacaccccag ggagactgga gccctgaagc cccgagatgt
     5221 gcagtgaaat cctgtgatga cttcttgggt caactccctc atggccgtgt gctatttcca
     5281 cttaatctcc agcttggggc aaaggtgtcc tttgtctgtg atgaagggtt tcgcttaaag
     5341 ggcagttccg ttagtcattg tgtcttggtt ggaatgagaa gcctttggaa taacagtgtt
     5401 cctgtgtgtg aacatatctt ttgtccaaat cctccagcta tccttaatgg gagacacaca
     5461 ggaactccct ctggagatat tccctatgga aaagaaatat cttacacatg tgacccccac
     5521 ccagacagag ggatgacctt caacctcatt ggggagagca ccatccgctg cacaagtgac
     5581 cctcatggga atggggtttg gagcagccct gcccctcgct gtgaactttc tgttcgtgct
     5641 ggtcactgta aaaccccaga gcagtttcca tttgccagtc ctacgatccc aattaatgac
     5701 tttgagtttc cagtcgggac atctttgaat tatgaatgcc gtcctgggta ttttgggaaa
     5761 atgttctcta tctcctgcct agaaaacttg gtctggtcaa gtgttgaaga caactgtaga
     5821 cgaaaatcat gtggacctcc accagaaccc ttcaatggaa tggtgcatat aaacacagat
     5881 acacagtttg gatcaacagt taattattct tgtaatgaag ggtttcgact cattggttcc
     5941 ccatctacta cttgtctcgt ctcaggcaat aatgtcacat gggataagaa ggcacctatt
     6001 tgtgagatca tatcttgtga gccacctcca accatatcca atggagactt ctacagcaac
     6061 aatagaacat cttttcacaa tggaacggtg gtaacttacc agtgccacac tggaccagat
     6121 ggagaacagc tgtttgagct tgtgggagaa cggtcaatat attgcaccag caaagatgat
     6181 caagttggtg tttggagcag ccctccccct cggtgtattt ctactaataa atgcacagct
     6241 ccagaagttg aaaatgcaat tagagtacca ggaaacagga gtttctttac cctcactgag
     6301 atcatcagat ttagatgtca gcccgggttt gtcatggtag ggtcccacac tgtgcagtgc
     6361 cagaccaatg gcagatgggg gcccaagctg ccacactgct ccagggtgtg tcagccgcct
     6421 ccagaaatcc tgcatggtga gcatacccta agccatcagg acaacttttc acctgggcag
     6481 gaagtgttct acagctgtga gcccagctat gacctcagag gggctgcgtc tctgcactgc
     6541 acgccccagg gagactggag ccctgaagcc cctagatgta cagtgaaatc ctgtgatgac
     6601 ttcctgggcc aactccctca tggccgtgtg ctacttccac ttaatctcca gcttggggca
     6661 aaggtgtcct ttgtttgcga tgaagggttc cgattaaaag gcaggtctgc tagtcattgt
     6721 gtcttggctg gaatgaaagc cctttggaat agcagtgttc cagtgtgtga acaaatcttt
     6781 tgtccaaatc ctccagctat ccttaatggg agacacacag gaactccctt tggagatatt
     6841 ccctatggaa aagaaatatc ttacgcatgc gacacccacc cagacagagg gatgaccttc
     6901 aacctcattg gggagagctc catccgctgc acaagtgacc ctcaagggaa tggggtttgg
     6961 agcagccctg cccctcgctg tgaactttct gttcctgctg cctgcccaca tccacccaag
     7021 atccaaaacg ggcattacat tggaggacac gtatctctat atcttcctgg gatgacaatc
     7081 agctacattt gtgaccccgg ctacctgtta gtgggaaagg gcttcatttt ctgtacagac
     7141 cagggaatct ggagccaatt ggatcattat tgcaaagaag taaattgtag cttcccactg
     7201 tttatgaatg gaatctcgaa ggagttagaa atgaaaaaag tatatcacta tggagattat
     7261 gtgactttga agtgtgaaga tgggtatact ctggaaggca gtccctggag ccagtgccag
     7321 gcggatgaca gatgggaccc tcctctggcc aaatgtacct ctcgtacaca tgatgctctc
     7381 atagttggca ctttatctgg tacgatcttc tttattttac tcatcatttt cctctcttgg
     7441 ataattctaa agcacagaaa aggcaataat gcacatgaaa accctaaaga agtggctatc
     7501 catttacatt ctcaaggagg cagcagcgtt catccccgaa ctctgcaaac aaatgaagaa
     7561 aatagcaggg tccttccttg acaaagtact atacagctga agaacatctc gaatacaatt
     7621 ttggtgggaa aggagccaat tgatttcaac agaatcagat ctgagcttca taaagtcttt
     7681 gaagtgactt cacagagacg cagacatgtg cacttgaaga tgctgcccct tccctggtac
     7741 ctagcaaagc tcctgcctct ttgtgtgcgt cactgtgaaa cccccaccct tctgcctcgt
     7801 gctaaacgca cacagtatct agtcagggga aaagactgca tttaggagat agaaaatagt
     7861 ttggattact taaaggaata aggtgttgcc tggaatttct ggtttgtaag gtggtcactg
     7921 ttctttttta aaatatttgt aatatggaat gggctcagta agaagagctt ggaaaatgca
     7981 gaaagttatg aaaaataagt cacttataat tatgctacct actgataacc actcctaata
     8041 ttttgattca ttttctgcct atcttctttc acatatgtgt ttttttacat acgtactttt
     8101 cccccttagt ttgtttcctt ttattttata gagcagaacc ctagtctttt aaacagttta
     8161 gagtgaaata tatgctatat cagtttttac tttctctagg gagaaaaatt aatttactag
     8221 aaaggcatga aatgatcatg ggaagagtgg ttaagactac tgaagagaaa tatttggaaa
     8281 ataagatttc gatatcttct ttttttttga gatggagtct ggctctgtct cccaggctgg
     8341 agtgcagtgg cgtaatctcg gctcactgca agctccgcct cccgggttga caccattttc
     8401 ctgcctcagc ctcctgagta gttgggatta ccagtagatg ggactacagg cacctgccaa
     8461 cacgcccggc taattttttt gtatttttag tagagacggg gtttcaccat gttagccagg
     8521 atggtctgga tctcctgacc tcgtgatcca cctgcctcgg cctcccaaag tgctgcgatt
     8581 acaggcatga gccaccgcgc ctggccgctt tcgatatttt ctaaacttta attcaaaagc
     8641 actttgtgct gtgttctata taaaaaacat aataaaaatt gaaatgaaag aataattgtt
     8701 attataaaag tactagctta cttttgtatg gattcagaat atactaaatt aactttttaa
     8761 aacacaactt ttaaaaaatg tatcaaaata ataaacgtgt tctgatattt ttaaaataag
     8821 tgaccttgtg ttctttaacc agtccacatc tttagagaac aaaaatgtgt tatgatatta
     8881 tgggccatgc taatgacctc tagaaaacat cagaatattt ctggatattt aataatagct
     8941 ttatatatga ctaatgctca tttctatgta attctgttta atagttgctt taaaggtgaa
     9001 ttttgccaca tttactttga cagcagtata aggagtgaga tagacatgaa cctgaatttc
     9061 aatttaaaat catggaagag agggaaaaaa aaccagctta agaaaaatca actgataaac
     9121 tgcaagaaaa aaatgcaact tacatcacaa aagctaattg ctttattatt tagagagtac
     9181 ttaaaaatta aagaccaaac ttctctccac ccaacaaaaa tgggcaaagg acatacagct
     9241 aggtcaccaa gaaagaaggg caaataggtg gtgagtatat gtaaagatac ttgataggac
     9301 ttttgcttag ttgaatcttt agcaaatctc ttttatttct tgggattttg aagaagtaat
     9361 ttttaaagga ggactagaaa ctaagtgatt gggaattggc ctttttagaa ttaaaatttc
     9421 ccattacaag aaaaaaaaat cctgtgttct tttttttttc cagaatggag taggtcagtg
     9481 agcaatgtga ttaataaata tttcaatgtc tgtgactttt gatttatttt ggagacaggg
     9541 tcttgctctg ttacccaggc tggagtgcag tggtgctatc taggcttact gcaacctcac
     9601 ctgtcacttt ttaattgcaa gaaagctgaa aggttttttt ctattatatc agttataatg
     9661 ataaatactg tatatactaa ctatgagtaa aatactatat tgcctaactt gtattattaa
     9721 gcaattctgc taacctgtga ccttacattt tcatctgaaa agcaggggct ggacaccaat
     9781 tgccctatga agctattgct agtcctaaca ttctttgttt tgtttgcttt tttggcacac
     9841 ttaagtgtgt actatgaagt ttatgatgct ttaatgaaat tttctgtctc taccattgta
     9901 atgagaaagg aataaaatac tttattttgc aaatcta
//
LOCUS       NM_000655               2358 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens selectin L (SELL), transcript variant 1, mRNA.
ACCESSION   NM_000655
VERSION     NM_000655.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2358)
  AUTHORS   Khantham C, Ruksiriwanich W, Chaitep T, Linsaenkart P, Muangsanguan
            A, Guzman-Jimenez A, Cervan-Martin M, Bossini-Castillo L,
            Gonzalez-Munoz S, Palomino-Morales RJ, Leetrakool N, Shaengkhamnang
            B, Chittasupho C, Jantrawut P, Sommano SR, Phimolsiripol Y and
            Carmona FD.
  TITLE     Sex-specific association of SELL gene polymorphisms with pattern
            hair loss in the Thai population: A candidate gene association study
            and in silico functional characterization
  JOURNAL   J Dermatol Sci 109 (2), 102-105 (2023)
   PUBMED   36828746
  REMARK    GeneRIF: Sex-specific association of SELL gene polymorphisms with
            pattern hair loss in the Thai population: A candidate gene
            association study and in silico functional characterization.
REFERENCE   2  (bases 1 to 2358)
  AUTHORS   Song H, Huang XF, Hu SY, Lu LL and Yang XY.
  TITLE     The LINC00261/MiR105-5p/SELL axis is involved in dysfunction of B
            cell and is associated with overall survival in hepatocellular
            carcinoma
  JOURNAL   PeerJ 10, e12588 (2022)
   PUBMED   35702258
  REMARK    GeneRIF: The LINC00261/MiR105-5p/SELL axis is involved in
            dysfunction of B cell and is associated with overall survival in
            hepatocellular carcinoma. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2358)
  AUTHORS   Rutkowska E, Kwiecien I, Klos K, Rzepecki P and Chcialowski A.
  TITLE     Intermediate Monocytes with PD-L1 and CD62L Expression as a Possible
            Player in Active SARS-CoV-2 Infection
  JOURNAL   Viruses 14 (4), 819 (2022)
   PUBMED   35458548
  REMARK    GeneRIF: Intermediate Monocytes with PD-L1 and CD62L Expression as a
            Possible Player in Active SARS-CoV-2 Infection. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 2358)
  AUTHORS   Ito Y, Nakahara F, Kagoya Y and Kurokawa M.
  TITLE     CD62L expression level determines the cell fate of myeloid
            progenitors
  JOURNAL   Stem Cell Reports 16 (12), 2871-2886 (2021)
   PUBMED   34798065
  REMARK    GeneRIF: CD62L expression level determines the cell fate of myeloid
            progenitors.
REFERENCE   5  (bases 1 to 2358)
  AUTHORS   Campana S, De Pasquale C, Barberi C, Oliveri D, Sidoti Migliore G,
            Galletti B, Guarneri C, Cannavo SP and Ferlazzo G.
  TITLE     Circulating ILC precursors expressing CD62L exhibit a type 2
            signature distinctly decreased in psoriatic patients
  JOURNAL   Eur J Immunol 51 (7), 1792-1798 (2021)
   PUBMED   33728641
  REMARK    GeneRIF: Circulating ILC precursors expressing CD62L exhibit a type
            2 signature distinctly decreased in psoriatic patients.
REFERENCE   6  (bases 1 to 2358)
  AUTHORS   Lasky LA, Singer MS, Dowbenko D, Imai Y, Henzel WJ, Grimley C,
            Fennie C, Gillett N, Watson SR and Rosen SD.
  TITLE     An endothelial ligand for L-selectin is a novel mucin-like molecule
  JOURNAL   Cell 69 (6), 927-938 (1992)
   PUBMED   1376638
REFERENCE   7  (bases 1 to 2358)
  AUTHORS   Ryan US and Worthington RE.
  TITLE     Cell-cell contact mechanisms
  JOURNAL   Curr Opin Immunol 4 (1), 33-37 (1992)
   PUBMED   1375831
  REMARK    Review article
REFERENCE   8  (bases 1 to 2358)
  AUTHORS   Bevilacqua,M., Butcher,E., Furie,B., Furie,B., Gallatin,M.,
            Gimbrone,M., Harlan,J., Kishimoto,K., Lasky,L., McEver,R. et al.
  TITLE     Selectins: a family of adhesion receptors
  JOURNAL   Cell 67 (2), 233 (1991)
   PUBMED   1717161
REFERENCE   9  (bases 1 to 2358)
  AUTHORS   Ord DC, Ernst TJ, Zhou LJ, Rambaldi A, Spertini O, Griffin J and
            Tedder TF.
  TITLE     Structure of the gene encoding the human leukocyte adhesion
            molecule-1 (TQ1, Leu-8) of lymphocytes and neutrophils
  JOURNAL   J Biol Chem 265 (14), 7760-7767 (1990)
   PUBMED   1692315
REFERENCE   10  (bases 1 to 2358)
  AUTHORS   Tedder TF, Isaacs CM, Ernst TJ, Demetri GD, Adler DA and Disteche
            CM.
  TITLE     Isolation and chromosomal localization of cDNAs encoding a novel
            human lymphocyte cell surface molecule, LAM-1. Homology with the
            mouse lymphocyte homing receptor and other human adhesion proteins
  JOURNAL   J Exp Med 170 (1), 123-133 (1989)
   PUBMED   2473156
COMMENT     ##Evidence-Data-START##
            Transcript exon combination      :: X16150.1, X17519.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000236147.6/ ENSP00000236147.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA671852.1, AJ246000.1,
            BQ004720.1 and BP393094.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 9, 2018 this sequence version replaced NM_000655.4.
            Summary: This gene encodes a cell surface adhesion molecule that
            belongs to a family of adhesion/homing receptors. The encoded
            protein contains a C-type lectin-like domain, a calcium-binding
            epidermal growth factor-like domain, and two short complement-like
            repeats. The gene product is required for binding and subsequent
            rolling of leucocytes on endothelial cells, facilitating their
            migration into secondary lymphoid organs and inflammation sites.
            Single-nucleotide polymorphisms in this gene have been associated
            with various diseases including immunoglobulin A nephropathy.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Oct 2009].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the functional protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2358
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.2"
     gene            1..2358
                     /gene="SELL"
                     /gene_synonym="CD62L; LAM1; LECAM1; LEU8; LNHR; LSEL;
                     LYAM1; PLNHR; TQ1"
                     /note="selectin L"
                     /db_xref="GeneID:6402"
                     /db_xref="HGNC:HGNC:10720"
                     /db_xref="MIM:153240"
     misc_feature    54..56
                     /gene="SELL"
                     /gene_synonym="CD62L; LAM1; LECAM1; LEU8; LNHR; LSEL;
                     LYAM1; PLNHR; TQ1"
                     /note="upstream in-frame stop codon"
     misc_feature    84..86
                     /gene="SELL"
                     /gene_synonym="CD62L; LAM1; LECAM1; LEU8; LNHR; LSEL;
                     LYAM1; PLNHR; TQ1"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MGCRRTREGPSKA"
     CDS             123..1241
                     /gene="SELL"
                     /gene_synonym="CD62L; LAM1; LECAM1; LEU8; LNHR; LSEL;
                     LYAM1; PLNHR; TQ1"
                     /note="lymph node homing receptor; lymphocyte adhesion
                     molecule 1; pln homing receptor; CD62 antigen-like family
                     member L; gp90-MEL; leukocyte-endothelial cell adhesion
                     molecule 1; leukocyte surface antigen Leu-8"
                     /codon_start=1
                     /product="L-selectin precursor"
                     /protein_id="NP_000646.3"
                     /db_xref="CCDS:CCDS53427.2"
                     /db_xref="GeneID:6402"
                     /db_xref="HGNC:HGNC:10720"
                     /db_xref="MIM:153240"
                     /translation="MIFPWKCQSTQRDLWNIFKLWGWTMLCCDFLAHHGTDCWTYHYSE
                     KPMNWQRARRFCRDNYTDLVAIQNKAEIEYLEKTLPFSRSYYWIGIRKIGGIWTWVGTN
                     KSLTEEAENWGDGEPNNKKNKEDCVEIYIKRNKDAGKWNDDACHKLKAALCYTASCQPW
                     SCSGHGECVEIINNYTCNCDVGYYGPQCQFVIQCEPLEAPELGTMDCTHPLGNFSFSSQ
                     CAFSCSEGTNLTGIEETTCGPFGNWSSPEPTCQVIQCEPLSAPDLGIMNCSHPLASFSF
                     TSACTFICSEGTELIGKKKTICESSGIWSNPSPICQKLDKSFSMIKEGDYNPLFIPVAV
                     MVTAFSGLAFIIWLARRLKKGKKSKRSMNDPY"
     sig_peptide     123..206
                     /gene="SELL"
                     /gene_synonym="CD62L; LAM1; LECAM1; LEU8; LNHR; LSEL;
                     LYAM1; PLNHR; TQ1"
                     /note="propagated from UniProtKB/Swiss-Prot (P14151.2)"
     mat_peptide     237..1238
                     /gene="SELL"
                     /gene_synonym="CD62L; LAM1; LECAM1; LEU8; LNHR; LSEL;
                     LYAM1; PLNHR; TQ1"
                     /product="L-selectin"
     misc_feature    300..302
                     /gene="SELL"
                     /gene_synonym="CD62L; LAM1; LECAM1; LEU8; LNHR; LSEL;
                     LYAM1; PLNHR; TQ1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19349973, ECO:0000269|PubMed:28011641,
                     ECO:0000305|PubMed:28489325, ECO:0007744|PDB:3CFW;
                     propagated from UniProtKB/Swiss-Prot (P14151.2);
                     glycosylation site"
     misc_feature    432..434
                     /gene="SELL"
                     /gene_synonym="CD62L; LAM1; LECAM1; LEU8; LNHR; LSEL;
                     LYAM1; PLNHR; TQ1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973,
                     ECO:0000269|PubMed:28011641, ECO:0000269|PubMed:28489325,
                     ECO:0007744|PDB:3CFW; propagated from UniProtKB/Swiss-Prot
                     (P14151.2); glycosylation site"
     misc_feature    651..653
                     /gene="SELL"
                     /gene_synonym="CD62L; LAM1; LECAM1; LEU8; LNHR; LSEL;
                     LYAM1; PLNHR; TQ1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305|PubMed:28489325; propagated from
                     UniProtKB/Swiss-Prot (P14151.2); glycosylation site"
     misc_feature    816..818
                     /gene="SELL"
                     /gene_synonym="CD62L; LAM1; LECAM1; LEU8; LNHR; LSEL;
                     LYAM1; PLNHR; TQ1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14151.2); glycosylation site"
     misc_feature    858..860
                     /gene="SELL"
                     /gene_synonym="CD62L; LAM1; LECAM1; LEU8; LNHR; LSEL;
                     LYAM1; PLNHR; TQ1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14151.2); glycosylation site"
     misc_feature    933..935
                     /gene="SELL"
                     /gene_synonym="CD62L; LAM1; LECAM1; LEU8; LNHR; LSEL;
                     LYAM1; PLNHR; TQ1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14151.2); glycosylation site"
     misc_feature    1119..1187
                     /gene="SELL"
                     /gene_synonym="CD62L; LAM1; LECAM1; LEU8; LNHR; LSEL;
                     LYAM1; PLNHR; TQ1"
                     /note="propagated from UniProtKB/Swiss-Prot (P14151.2);
                     transmembrane region"
     regulatory      2333..2338
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SELL"
                     /gene_synonym="CD62L; LAM1; LECAM1; LEU8; LNHR; LSEL;
                     LYAM1; PLNHR; TQ1"
                     /note="hexamer: AATAAA"
     polyA_site      2358
                     /gene="SELL"
                     /gene_synonym="CD62L; LAM1; LECAM1; LEU8; LNHR; LSEL;
                     LYAM1; PLNHR; TQ1"
                     /note="major polyA site"
ORIGIN
        1 gacattcagt gcagtctacc tgcagcacag cacactccct ttgggcaagg acctgagacc
       61 cttgtgctaa gtcaagaggc tcaatgggct gcagaagaac tagagaagga ccaagcaaag
      121 ccatgatatt tccatggaaa tgtcagagca cccagaggga cttatggaac atcttcaagt
      181 tgtgggggtg gacaatgctc tgttgtgatt tcctggcaca tcatggaacc gactgctgga
      241 cttaccatta ttctgaaaaa cccatgaact ggcaaagggc tagaagattc tgccgagaca
      301 attacacaga tttagttgcc atacaaaaca aggcggaaat tgagtatctg gagaagactc
      361 tgcctttcag tcgttcttac tactggatag gaatccggaa gataggagga atatggacgt
      421 gggtgggaac caacaaatct cttactgaag aagcagagaa ctggggagat ggtgagccca
      481 acaacaagaa gaacaaggag gactgcgtgg agatctatat caagagaaac aaagatgcag
      541 gcaaatggaa cgatgacgcc tgccacaaac taaaggcagc cctctgttac acagcttctt
      601 gccagccctg gtcatgcagt ggccatggag aatgtgtaga aatcatcaat aattacacct
      661 gcaactgtga tgtggggtac tatgggcccc agtgtcagtt tgtgattcag tgtgagcctt
      721 tggaggcccc agagctgggt accatggact gtactcaccc tttgggaaac ttcagcttca
      781 gctcacagtg tgccttcagc tgctctgaag gaacaaactt aactgggatt gaagaaacca
      841 cctgtggacc atttggaaac tggtcatctc cagaaccaac ctgtcaagtg attcagtgtg
      901 agcctctatc agcaccagat ttggggatca tgaactgtag ccatcccctg gccagcttca
      961 gctttacctc tgcatgtacc ttcatctgct cagaaggaac tgagttaatt gggaagaaga
     1021 aaaccatttg tgaatcatct ggaatctggt caaatcctag tccaatatgt caaaaattgg
     1081 acaaaagttt ctcaatgatt aaggagggtg attataaccc cctcttcatt ccagtggcag
     1141 tcatggttac tgcattctct gggttggcat ttatcatttg gctggcaagg agattaaaaa
     1201 aaggcaagaa atccaagaga agtatgaatg acccatatta aatcgccctt ggtgaaagaa
     1261 aattcttgga atactaaaaa tcatgagatc ctttaaatcc ttccatgaaa cgttttgtgt
     1321 ggtggcacct cctacgtcaa acatgaagtg tgtttccttc agtgcatctg ggaagatttc
     1381 tacctgacca acagttcctt cagcttccat ttcgcccctc atttatccct caacccccag
     1441 cccacaggtg tttatacagc tcagcttttt gtcttttctg aggagaaaca aataagacca
     1501 taaagggaaa ggattcatgt ggaatataaa gatggctgac tttgctcttt cttgactctt
     1561 gttttcagtt tcaattcagt gctgtacttg atgacagaca cttctaaatg aagtgcaaat
     1621 ttgatacata tgtgaatatg gactcagttt tcttgcagat caaatttcac gtcgtcttct
     1681 gtatactgtg gaggtacact cttatagaaa gttcaaaaag tctacgctct cctttctttc
     1741 taactccagt gaagtaatgg ggtcctgctc aagttgaaag agtcctattt gcactgtagc
     1801 ctcgccgtct gtgaattgga ccatcctatt taactggctt cagcctcccc accttcttca
     1861 gccacctctc tttttcagtt ggctgacttc cacacctagc atctcatgag tgccaagcaa
     1921 aaggagagaa gagagaaata gcctgcgctg ttttttagtt tgggggtttt gctgtttcct
     1981 tttatgagac ccattcctat ttcttatagt caatgtttct tttatcacga tattattagt
     2041 aagaaaacat cactgaaatg ctagctgcaa gtgacatctc tttgatgtca tatggaagag
     2101 ttaaaacagg tggagaaatt ccttgattca caatgaaatg ctctcctttc ccctgccccc
     2161 agacctttta tccacttacc tagattctac atattcttta aatttcatct caggcctccc
     2221 tcaaccccac cacttctttt ataactagtc ctttactaat ccaacccatg atgagctcct
     2281 cttcctggct tcttactgaa aggttaccct gtaacatgca attttgcatt tgaataaagc
     2341 ctgcttttta agtgttaa
//
LOCUS       NM_000660               2780 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens transforming growth factor beta 1 (TGFB1), mRNA.
ACCESSION   NM_000660
VERSION     NM_000660.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2780)
  AUTHORS   Kreienbuhl J, Changkhong S, Orlowski V, Kirschner MB, Opitz I and
            Meerang M.
  TITLE     Cullin 4B Ubiquitin Ligase Is Important for Cell Survival and
            Regulates TGF-beta1 Expression in Pleural Mesothelioma
  JOURNAL   Int J Mol Sci 24 (17), 13410 (2023)
   PUBMED   37686215
  REMARK    GeneRIF: Cullin 4B Ubiquitin Ligase Is Important for Cell Survival
            and Regulates TGF-beta1 Expression in Pleural Mesothelioma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2780)
  AUTHORS   Ham SM, Song MJ, Yoon HS, Lee DH, Chung JH and Lee ST.
  TITLE     SPARC Is Highly Expressed in Young Skin and Promotes Extracellular
            Matrix Integrity in Fibroblasts via the TGF-beta Signaling Pathway
  JOURNAL   Int J Mol Sci 24 (15), 12179 (2023)
   PUBMED   37569556
  REMARK    GeneRIF: SPARC Is Highly Expressed in Young Skin and Promotes
            Extracellular Matrix Integrity in Fibroblasts via the TGF-beta
            Signaling Pathway. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2780)
  AUTHORS   Dubois CM, Laprise MH, Blanchette F, Gentry LE and Leduc R.
  TITLE     Processing of transforming growth factor beta 1 precursor by human
            furin convertase
  JOURNAL   J Biol Chem 270 (18), 10618-10624 (1995)
   PUBMED   7737999
REFERENCE   4  (bases 1 to 2780)
  AUTHORS   Wallace,S.E. and Wilcox,W.R.
  TITLE     Camurati-Engelmann Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301335
REFERENCE   5  (bases 1 to 2780)
  AUTHORS   Zauli G, Davis BR, Re MC, Visani G, Furlini G and La Placa M.
  TITLE     tat protein stimulates production of transforming growth factor-beta
            1 by marrow macrophages: a potential mechanism for human
            immunodeficiency virus-1-induced hematopoietic suppression
  JOURNAL   Blood 80 (12), 3036-3043 (1992)
   PUBMED   1281686
REFERENCE   6  (bases 1 to 2780)
  AUTHORS   Cheifetz S, Bellon T, Cales C, Vera S, Bernabeu C, Massague J and
            Letarte M.
  TITLE     Endoglin is a component of the transforming growth factor-beta
            receptor system in human endothelial cells
  JOURNAL   J Biol Chem 267 (27), 19027-19030 (1992)
   PUBMED   1326540
REFERENCE   7  (bases 1 to 2780)
  AUTHORS   Kim SJ, Glick A, Sporn MB and Roberts AB.
  TITLE     Characterization of the promoter region of the human transforming
            growth factor-beta 1 gene
  JOURNAL   J Biol Chem 264 (1), 402-408 (1989)
   PUBMED   2909528
REFERENCE   8  (bases 1 to 2780)
  AUTHORS   Miyazono K, Hellman U, Wernstedt C and Heldin CH.
  TITLE     Latent high molecular weight complex of transforming growth factor
            beta 1. Purification from human platelets and structural
            characterization
  JOURNAL   J Biol Chem 263 (13), 6407-6415 (1988)
   PUBMED   3162913
REFERENCE   9  (bases 1 to 2780)
  AUTHORS   Derynck,R., Rhee,L., Chen,E.Y. and Van Tilburg,A.
  TITLE     Intron-exon structure of the human transforming growth factor-beta
            precursor gene
  JOURNAL   Nucleic Acids Res 15 (7), 3188-3189 (1987)
   PUBMED   3470709
REFERENCE   10  (bases 1 to 2780)
  AUTHORS   Derynck,R., Jarrett,J.A., Chen,E.Y., Eaton,D.H., Bell,J.R.,
            Assoian,R.K., Roberts,A.B., Sporn,M.B. and Goeddel,D.V.
  TITLE     Human transforming growth factor-beta complementary DNA sequence and
            expression in normal and transformed cells
  JOURNAL   Nature 316 (6030), 701-705 (1985)
   PUBMED   3861940
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X02812.1, SRR3476690.819241.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA2142670 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000221930.6/ ENSP00000221930.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011462.4, X02812.1,
            BC000125.1 and BM692012.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000660.6.
            Summary: This gene encodes a secreted ligand of the TGF-beta
            (transforming growth factor-beta) superfamily of proteins. Ligands
            of this family bind various TGF-beta receptors leading to
            recruitment and activation of SMAD family transcription factors
            that regulate gene expression. The encoded preproprotein is
            proteolytically processed to generate a latency-associated peptide
            (LAP) and a mature peptide, and is found in either a latent form
            composed of a mature peptide homodimer, a LAP homodimer, and a
            latent TGF-beta binding protein, or in an active form consisting
            solely of the mature peptide homodimer. The mature peptide may also
            form heterodimers with other TGFB family members. This encoded
            protein regulates cell proliferation, differentiation and growth,
            and can modulate expression and activation of other growth factors
            including interferon gamma and tumor necrosis factor alpha. This
            gene is frequently upregulated in tumor cells, and mutations in
            this gene result in Camurati-Engelmann disease. [provided by
            RefSeq, Aug 2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2780
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..2780
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="transforming growth factor beta 1"
                     /db_xref="GeneID:7040"
                     /db_xref="HGNC:HGNC:11766"
                     /db_xref="MIM:190180"
     misc_feature    123..125
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="upstream in-frame stop codon"
     misc_feature    310
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /experiment="EXISTENCE:primer extension assay evidence
                     [ECO:0001819][PMID:2909528]"
                     /note="alternative transcription start site"
     misc_feature    509
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /experiment="EXISTENCE:primer extension assay evidence
                     [ECO:0001819][PMID:2909528]"
                     /note="alternative transcription start site"
     misc_feature    564
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /experiment="EXISTENCE:primer extension assay evidence
                     [ECO:0001819][PMID:2909528]"
                     /note="alternative transcription start site"
     CDS             879..2051
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="prepro-transforming growth factor beta-1;
                     latency-associated peptide; TGF-beta-1; transforming growth
                     factor beta-1 proprotein; transforming growth factor beta1"
                     /codon_start=1
                     /product="transforming growth factor beta-1 proprotein
                     preproprotein"
                     /protein_id="NP_000651.3"
                     /db_xref="CCDS:CCDS33031.1"
                     /db_xref="GeneID:7040"
                     /db_xref="HGNC:HGNC:11766"
                     /db_xref="MIM:190180"
                     /translation="MPPSGLRLLPLLLPLLWLLVLTPGRPAAGLSTCKTIDMELVKRKR
                     IEAIRGQILSKLRLASPPSQGEVPPGPLPEAVLALYNSTRDRVAGESAEPEPEPEADYY
                     AKEVTRVLMVETHNEIYDKFKQSTHSIYMFFNTSELREAVPEPVLLSRAELRLLRLKLK
                     VEQHVELYQKYSNNSWRYLSNRLLAPSDSPEWLSFDVTGVVRQWLSRGGEIEGFRLSAH
                     CSCDSRDNTLQVDINGFTTGRRGDLATIHGMNRPFLLLMATPLERAQHLQSSRHRRALD
                     TNYCFSSTEKNCCVRQLYIDFRKDLGWKWIHEPKGYHANFCLGPCPYIWSLDTQYSKVL
                     ALYNQHNPGASAAPCCVPQALEPLPIVYYVGRKPKVEQLSNMIVRSCKCS"
     sig_peptide     879..965
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="/evidence=ECO:0000269|PubMed:3162913; propagated
                     from UniProtKB/Swiss-Prot (P01137.3)"
     mat_peptide     966..1712
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /product="Latency-associated peptide.
                     /evidence=ECO:0000305|PubMed:2982829,
                     ECO:0000305|PubMed:3162913, ECO:0000305|PubMed:7737999,
                     ECO:0000305|PubMed:8471846. /id=PRO_0000033762"
                     /note="propagated from UniProtKB/Swiss-Prot (P01137.3)"
     misc_feature    966..1100
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="propagated from UniProtKB/Swiss-Prot (P01137.3);
                     Region: Straightjacket domain.
                     /evidence=ECO:0000250|UniProtKB:P07200"
     misc_feature    1101..1691
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="propagated from UniProtKB/Swiss-Prot (P01137.3);
                     Region: Arm domain. /evidence=ECO:0000250|UniProtKB:P07200"
     misc_feature    1122..1124
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16263699,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:28117447,
                     ECO:0007744|PDB:5FFO; propagated from UniProtKB/Swiss-Prot
                     (P01137.3); glycosylation site"
     misc_feature    1284..1286
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P01137.3); glycosylation site"
     misc_feature    1404..1406
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P01137.3); glycosylation site"
     misc_feature    1554..1634
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="propagated from UniProtKB/Swiss-Prot (P01137.3);
                     Region: Bowtie tail. /evidence=ECO:0000269|PubMed:28117447"
     misc_feature    1608..1616
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="propagated from UniProtKB/Swiss-Prot (P01137.3);
                     Region: Cell attachment site.
                     /evidence=ECO:0000269|PubMed:28117447"
     misc_feature    1710..1715
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /experiment="EXISTENCE:Western blot evidence
                     [ECO:0000112][PMID:7737999]"
                     /note="cleavage by furin"
     mat_peptide     1713..2048
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /product="Transforming growth factor beta-1.
                     /evidence=ECO:0000305|PubMed:2982829,
                     ECO:0000305|PubMed:3162913, ECO:0000305|PubMed:7737999,
                     ECO:0000305|PubMed:8471846. /id=PRO_0000033763"
                     /note="propagated from UniProtKB/Swiss-Prot (P01137.3)"
     regulatory      2171..2176
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="hexamer: ATTAAA"
     polyA_site      2189
                     /gene="TGFB1"
                     /gene_synonym="CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB;
                     TGFbeta"
                     /note="major polyA site"
ORIGIN
        1 gccgccgccg cccttcgcgc cctgggccat ctccctccca cctccctccg cggagcagcc
       61 agacagcgag ggccccggcc gggggcaggg gggacgcccc gtccggggca cccccccggc
      121 tctgagccgc ccgcggggcc ggcctcggcc cggagcggag gaaggagtcg ccgaggagca
      181 gcctgaggcc ccagagtctg agacgagccg ccgccgcccc cgccactgcg gggaggaggg
      241 ggaggaggag cgggaggagg gacgagctgg tcgggagaag aggaaaaaaa cttttgagac
      301 ttttccgttg ccgctgggag ccggaggcgc ggggacctct tggcgcgacg ctgccccgcg
      361 aggaggcagg acttggggac cccagaccgc ctccctttgc cgccggggac gcttgctccc
      421 tccctgcccc ctacacggcg tccctcaggc gcccccattc cggaccagcc ctcgggagtc
      481 gccgacccgg cctcccgcaa agacttttcc ccagacctcg ggcgcacccc ctgcacgccg
      541 ccttcatccc cggcctgtct cctgagcccc cgcgcatcct agaccctttc tcctccagga
      601 gacggatctc tctccgacct gccacagatc ccctattcaa gaccacccac cttctggtac
      661 cagatcgcgc ccatctaggt tatttccgtg ggatactgag acacccccgg tccaagcctc
      721 ccctccacca ctgcgccctt ctccctgagg acctcagctt tccctcgagg ccctcctacc
      781 ttttgccggg agacccccag cccctgcagg ggcggggcct ccccaccaca ccagccctgt
      841 tcgcgctctc ggcagtgccg gggggcgccg cctcccccat gccgccctcc gggctgcggc
      901 tgctgccgct gctgctaccg ctgctgtggc tactggtgct gacgcctggc cggccggccg
      961 cgggactatc cacctgcaag actatcgaca tggagctggt gaagcggaag cgcatcgagg
     1021 ccatccgcgg ccagatcctg tccaagctgc ggctcgccag ccccccgagc cagggggagg
     1081 tgccgcccgg cccgctgccc gaggccgtgc tcgccctgta caacagcacc cgcgaccggg
     1141 tggccgggga gagtgcagaa ccggagcccg agcctgaggc cgactactac gccaaggagg
     1201 tcacccgcgt gctaatggtg gaaacccaca acgaaatcta tgacaagttc aagcagagta
     1261 cacacagcat atatatgttc ttcaacacat cagagctccg agaagcggta cctgaacccg
     1321 tgttgctctc ccgggcagag ctgcgtctgc tgaggctcaa gttaaaagtg gagcagcacg
     1381 tggagctgta ccagaaatac agcaacaatt cctggcgata cctcagcaac cggctgctgg
     1441 cacccagcga ctcgccagag tggttatctt ttgatgtcac cggagttgtg cggcagtggt
     1501 tgagccgtgg aggggaaatt gagggctttc gccttagcgc ccactgctcc tgtgacagca
     1561 gggataacac actgcaagtg gacatcaacg ggttcactac cggccgccga ggtgacctgg
     1621 ccaccattca tggcatgaac cggcctttcc tgcttctcat ggccaccccg ctggagaggg
     1681 cccagcatct gcaaagctcc cggcaccgcc gagccctgga caccaactat tgcttcagct
     1741 ccacggagaa gaactgctgc gtgcggcagc tgtacattga cttccgcaag gacctcggct
     1801 ggaagtggat ccacgagccc aagggctacc atgccaactt ctgcctcggg ccctgcccct
     1861 acatttggag cctggacacg cagtacagca aggtcctggc cctgtacaac cagcataacc
     1921 cgggcgcctc ggcggcgccg tgctgcgtgc cgcaggcgct ggagccgctg cccatcgtgt
     1981 actacgtggg ccgcaagccc aaggtggagc agctgtccaa catgatcgtg cgctcctgca
     2041 agtgcagctg aggtcccgcc ccgccccgcc ccgccccggc aggcccggcc ccaccccgcc
     2101 ccgcccccgc tgccttgccc atgggggctg tatttaagga cacccgtgcc ccaagcccac
     2161 ctggggcccc attaaagatg gagagaggac tgcggatctc tgtgtcattg ggcgcctgcc
     2221 tggggtctcc atccctgacg ttcccccact cccactccct ctctctccct ctctgcctcc
     2281 tcctgcctgt ctgcactatt cctttgcccg gcatcaaggc acaggggacc agtggggaac
     2341 actactgtag ttagatctat ttattgagca ccttgggcac tgttgaagtg ccttacatta
     2401 atgaactcat tcagtcacca tagcaacact ctgagatgca gggactctga taacacccat
     2461 tttaaaggtg aggaaacaag cccagagagg ttaagggagg agttcctgcc caccaggaac
     2521 ctgctttagt gggggatagt gaagaagaca ataaaagata gtagttcagg ccaggcgggg
     2581 tggctcacgc ctgtaatcct agcacttttg ggaggcagag atgggaggat tacttgaatc
     2641 caggcatttg agaccagcct gggtaacata gtgagaccct atctctacaa aacactttta
     2701 aaaaatgtac acctgtggtc ccagctactc tggaggctaa ggtgggagga tcacttgatc
     2761 ctgggaggtc aaggctgcag
//
LOCUS       NM_000661                724 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L9 (RPL9), transcript variant 1,
            mRNA.
ACCESSION   NM_000661
VERSION     NM_000661.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 724)
  AUTHORS   Zhang H, Zhang H and Chen C.
  TITLE     Investigating the folding mechanism of the N-terminal domain of
            ribosomal protein L9
  JOURNAL   Proteins 89 (7), 832-844 (2021)
   PUBMED   33576138
  REMARK    GeneRIF: Investigating the folding mechanism of the N-terminal
            domain of ribosomal protein L9.
REFERENCE   2  (bases 1 to 724)
  AUTHORS   Hassan FM, Alsultan A, Alzehrani F, Albuali W, Bubshait D, Abass E,
            Elbasheer M and Alkhanbashi A.
  TITLE     Genetic Variants of RPL5 and RPL9 Genes among Saudi Patients
            Diagnosed with Thrombosis
  JOURNAL   Med Arch 75 (3), 188-193 (2021)
   PUBMED   34483448
  REMARK    GeneRIF: Genetic Variants of RPL5 and RPL9 Genes among Saudi
            Patients Diagnosed with Thrombosis.
REFERENCE   3  (bases 1 to 724)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 724)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 724)
  AUTHORS   Lezzerini M, Penzo M, O'Donohue MF, Marques Dos Santos Vieira C,
            Saby M, Elfrink HL, Diets IJ, Hesse AM, Coute Y, Gastou M, Nin-Velez
            A, Nikkels PGJ, Olson AN, Zonneveld-Huijssoon E, Jongmans MCJ, Zhang
            G, van Weeghel M, Houtkooper RH, Wlodarski MW, Kuiper RP, Bierings
            MB, van der Werff Ten Bosch J, Leblanc T, Montanaro L, Dinman JD, Da
            Costa L, Gleizes PE and MacInnes AW.
  TITLE     Ribosomal protein gene RPL9 variants can differentially impair
            ribosome function and cellular metabolism
  JOURNAL   Nucleic Acids Res 48 (2), 770-787 (2020)
   PUBMED   31799629
  REMARK    GeneRIF: Here we report an individual diagnosed with DBA carrying a
            variant in the 5'UTR of RPL9 (uL6). Additionally, we report two
            individuals from a family with multiple cancer incidences carrying a
            RPL9 missense variant
REFERENCE   6  (bases 1 to 724)
  AUTHORS   Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, Mann M and
            Lamond AI.
  TITLE     Directed proteomic analysis of the human nucleolus
  JOURNAL   Curr Biol 12 (1), 1-11 (2002)
   PUBMED   11790298
REFERENCE   7  (bases 1 to 724)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   8  (bases 1 to 724)
  AUTHORS   Mazuruk K, Schoen TJ, Chader GJ, Iwata T and Rodriguez IR.
  TITLE     Structural organization and chromosomal localization of the human
            ribosomal protein L9 gene
  JOURNAL   Biochim Biophys Acta 1305 (3), 151-162 (1996)
   PUBMED   8597601
REFERENCE   9  (bases 1 to 724)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   10  (bases 1 to 724)
  AUTHORS   Hori N, Murakawa K, Matoba R, Fukushima A, Okubo K and Matsubara K.
  TITLE     A new human ribosomal protein sequence, homologue of rat L9
  JOURNAL   Nucleic Acids Res 21 (18), 4395 (1993)
   PUBMED   8415001
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BU599275.1, CD387625.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000295955.14/ ENSP00000346022.7
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BM841336.1, BC066318.1 and BC031906.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 19, 2020 this sequence version replaced NM_000661.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L6P family of ribosomal proteins. It is located in the
            cytoplasm. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Feb 2016].
            Transcript Variant: This variant (1) represents the shorter
            transcript and the predominant variant. Variants 1 and 2 encode the
            same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..724
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p14"
     gene            1..724
                     /gene="RPL9"
                     /gene_synonym="L9; NPC-A-16; uL6"
                     /note="ribosomal protein L9"
                     /db_xref="GeneID:6133"
                     /db_xref="HGNC:HGNC:10369"
                     /db_xref="MIM:603686"
     misc_feature    8
                     /gene="RPL9"
                     /gene_synonym="L9; NPC-A-16; uL6"
                     /note="predominant transcription initiation site"
     CDS             34..612
                     /gene="RPL9"
                     /gene_synonym="L9; NPC-A-16; uL6"
                     /note="60S ribosomal protein L9"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL6"
                     /protein_id="NP_000652.2"
                     /db_xref="CCDS:CCDS3452.1"
                     /db_xref="GeneID:6133"
                     /db_xref="HGNC:HGNC:10369"
                     /db_xref="MIM:603686"
                     /translation="MKTILSNQTVDIPENVDITLKGRTVIVKGPRGTLRRDFNHINVEL
                     SLLGKKKKRLRVDKWWGNRKELATVRTICSHVQNMIKGVTLGFRYKMRSVYAHFPINVV
                     IQENGSLVEIRNFLGEKYIRRVRMRPGVACSVSQAQKDELILEGNDIELVSNSAALIQQ
                     ATTVKNKDIRKFLDGIYVSEKGTVQQADE"
     misc_feature    394..396
                     /gene="RPL9"
                     /gene_synonym="L9; NPC-A-16; uL6"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P32969.1); acetylation site"
     regulatory      689..694
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL9"
                     /gene_synonym="L9; NPC-A-16; uL6"
                     /note="hexamer: AATAAA"
     polyA_site      724
                     /gene="RPL9"
                     /gene_synonym="L9; NPC-A-16; uL6"
                     /note="major polyA site"
ORIGIN
        1 agacgttctt tctttgctgc gtctactgcg agaatgaaga ctattctcag caatcagact
       61 gtcgacattc cagaaaatgt cgacattact ctgaagggac gcacagttat cgtgaagggc
      121 cccagaggaa ccctgcggag ggacttcaat cacatcaatg tagaactcag ccttcttgga
      181 aagaaaaaaa agaggctccg ggttgacaaa tggtggggta acagaaagga actggctacc
      241 gttcggacta tttgtagtca tgtacagaac atgatcaagg gtgttacact gggcttccgt
      301 tacaagatga ggtctgtgta tgctcacttc cccatcaacg ttgttatcca ggagaatggg
      361 tctcttgttg aaatccgaaa tttcttgggt gaaaaatata tccgcagggt tcggatgaga
      421 ccaggtgttg cttgttcagt atctcaagcc cagaaagatg aattaatcct tgaaggaaat
      481 gacattgagc ttgtttcaaa ttcagcggct ttgattcagc aagccacaac agttaaaaac
      541 aaggatatca ggaaattttt ggatggtatc tatgtctctg aaaaaggaac tgttcagcag
      601 gctgatgaat aagatctaag agttacctgg ctacagaaag aagatgccag atgacactta
      661 agacctactt gtgatattta aatgatgcaa taaaagacct attgatttgg accttcttct
      721 taaa
//
LOCUS       NM_000662               1799 bp    mRNA    linear   PRI 05-JUL-2023
DEFINITION  Homo sapiens N-acetyltransferase 1 (NAT1), transcript variant 5,
            mRNA.
ACCESSION   NM_000662
VERSION     NM_000662.8
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1799)
  AUTHORS   Hernandez-Gonzalez O, Del Carmen Milan-Segovia R, Zavala-Reyes D,
            Alvarado-Zamarripa DM, Ortiz-Zamudio JJ, Correa-Gonzalez LC,
            Vargas-Morales JM, Uresti-Rivera EE and Portales-Perez DP.
  TITLE     Altered Arylamine N-acetyltransferase 1 and miR-1290 Levels in
            Childhood Acute Lymphoblastic Leukemia: A Pilot Study
  JOURNAL   In Vivo 37 (3), 1129-1144 (2023)
   PUBMED   37103073
  REMARK    GeneRIF: Altered Arylamine N-acetyltransferase 1 and miR-1290 Levels
            in Childhood Acute Lymphoblastic Leukemia: A Pilot Study.
REFERENCE   2  (bases 1 to 1799)
  AUTHORS   Minchin RF, Hanna PE, Dupret JM, Wagner CR, Rodrigues-Lima F and
            Butcher NJ.
  TITLE     Arylamine N-acetyltransferase I
  JOURNAL   Int J Biochem Cell Biol 39 (11), 1999-2005 (2007)
   PUBMED   17392017
REFERENCE   3  (bases 1 to 1799)
  AUTHORS   Barker DF, Husain A, Neale JR, Martini BD, Zhang X, Doll MA, States
            JC and Hein DW.
  TITLE     Functional properties of an alternative, tissue-specific promoter
            for human arylamine N-acetyltransferase 1
  JOURNAL   Pharmacogenet Genomics 16 (7), 515-525 (2006)
   PUBMED   16788383
REFERENCE   4  (bases 1 to 1799)
  AUTHORS   Boukouvala S and Sim E.
  TITLE     Structural analysis of the genes for human arylamine
            N-acetyltransferases and characterisation of alternative transcripts
  JOURNAL   Basic Clin Pharmacol Toxicol 96 (5), 343-351 (2005)
   PUBMED   15853926
  REMARK    GeneRIF: Exon-intron structure and tissue localization of the human
            NAT1 gene is described.
REFERENCE   5  (bases 1 to 1799)
  AUTHORS   Butcher NJ, Arulpragasam A, Goh HL, Davey T and Minchin RF.
  TITLE     Genomic organization of human arylamine N-acetyltransferase Type I
            reveals alternative promoters that generate different 5'-UTR splice
            variants with altered translational activities
  JOURNAL   Biochem J 387 (Pt 1), 119-127 (2005)
   PUBMED   15487985
REFERENCE   6  (bases 1 to 1799)
  AUTHORS   Husain A, Barker DF, States JC, Doll MA and Hein DW.
  TITLE     Identification of the major promoter and non-coding exons of the
            human arylamine N-acetyltransferase 1 gene (NAT1)
  JOURNAL   Pharmacogenetics 14 (7), 397-406 (2004)
   PUBMED   15226672
  REMARK    GeneRIF: In breast, NAT1 mRNA is transcribed from a strong promoter
            located 11.8 kb upstream of the translated exon, and the mature
            spliced mRNA includes at least one additional non-coding exon.
REFERENCE   7  (bases 1 to 1799)
  AUTHORS   Butcher NJ, Arulpragasam A, Pope C and Minchin RF.
  TITLE     Identification of a minimal promoter sequence for the human
            N-acetyltransferase Type I gene that binds AP-1 (activator protein
            1) and YY-1 (Yin and Yang 1)
  JOURNAL   Biochem J 376 (Pt 2), 441-448 (2003)
   PUBMED   12946272
  REMARK    GeneRIF: Identification of minimal promoter sequences for
            transcription factor binding sites in the human N-acetyltransferase
            Type I gene. that binds
REFERENCE   8  (bases 1 to 1799)
  AUTHORS   Dupret JM and Grant DM.
  TITLE     Site-directed mutagenesis of recombinant human arylamine
            N-acetyltransferase expressed in Escherichia coli. Evidence for
            direct involvement of Cys68 in the catalytic mechanism of
            polymorphic human NAT2
  JOURNAL   J Biol Chem 267 (11), 7381-7385 (1992)
   PUBMED   1559981
REFERENCE   9  (bases 1 to 1799)
  AUTHORS   Blum M, Grant DM, McBride W, Heim M and Meyer UA.
  TITLE     Human arylamine N-acetyltransferase genes: isolation, chromosomal
            localization, and functional expression
  JOURNAL   DNA Cell Biol 9 (3), 193-203 (1990)
   PUBMED   2340091
REFERENCE   10  (bases 1 to 1799)
  AUTHORS   Ohsako S and Deguchi T.
  TITLE     Cloning and expression of cDNAs for polymorphic and monomorphic
            arylamine N-acetyltransferases from human liver
  JOURNAL   J Biol Chem 265 (8), 4630-4634 (1990)
   PUBMED   1968463
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.236840.1,
            SRR5189667.205165.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000307719.9/ ENSP00000307218.4
            RefSeq Select criteria      :: based on expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG655073.1, BC047666.1,
            BX647521.1 and BU753390.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000662.7.
            Summary: This gene is one of two arylamine N-acetyltransferase
            (NAT) genes in the human genome, and is orthologous to the mouse
            and rat Nat2 genes. The enzyme encoded by this gene catalyzes the
            transfer of an acetyl group from acetyl-CoA to various arylamine
            and hydrazine substrates. This enzyme helps metabolize drugs and
            other xenobiotics, and functions in folate catabolism. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Aug 2011].
            Transcript Variant: This variant (5, also known as Type IIA) lacks
            two alternate exons in the 5' UTR, compared to variant 1, and is
            the predominant transcript. This variant is transcribed from a
            promoter known as P1, promoter 2, or NATb promoter. Variants 1-6
            and 9 all encode the same isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1799
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p22"
     gene            1..1799
                     /gene="NAT1"
                     /gene_synonym="AAC1; MNAT; NAT-1; NATI"
                     /note="N-acetyltransferase 1"
                     /db_xref="GeneID:9"
                     /db_xref="HGNC:HGNC:7645"
                     /db_xref="MIM:108345"
     misc_feature    71..73
                     /gene="NAT1"
                     /gene_synonym="AAC1; MNAT; NAT-1; NATI"
                     /note="upstream in-frame stop codon"
     CDS             158..1030
                     /gene="NAT1"
                     /gene_synonym="AAC1; MNAT; NAT-1; NATI"
                     /EC_number="2.3.1.5"
                     /note="isoform a is encoded by transcript variant 5;
                     N-acetyltransferase type 1; monomorphic arylamine
                     N-acetyltransferase; arylamide acetylase 1;
                     N-acetyltransferase 1 (arylamine N-acetyltransferase)"
                     /codon_start=1
                     /product="arylamine N-acetyltransferase 1 isoform a"
                     /protein_id="NP_000653.3"
                     /db_xref="CCDS:CCDS6007.1"
                     /db_xref="GeneID:9"
                     /db_xref="HGNC:HGNC:7645"
                     /db_xref="MIM:108345"
                     /translation="MDIEAYLERIGYKKSRNKLDLETLTDILQHQIRAVPFENLNIHCG
                     DAMDLGLEAIFDQVVRRNRGGWCLQVNHLLYWALTTIGFETTMLGGYVYSTPAKKYSTG
                     MIHLLLQVTIDGRNYIVDAGFGRSYQMWQPLELISGKDQPQVPCVFRLTEENGFWYLDQ
                     IRREQYIPNEEFLHSDLLEDSKYRKIYSFTLKPRTIEDFESMNTYLQTSPSSVFTSKSF
                     CSLQTPDGVHCLVGFTLTHRRFNYKDNTDLIEFKTLSEEEIEKVLKNIFNISLQRKLVP
                     KHGDRFFTI"
     misc_feature    158..160
                     /gene="NAT1"
                     /gene_synonym="AAC1; MNAT; NAT-1; NATI"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P18440.2); acetylation site"
     regulatory      1361..1366
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAT1"
                     /gene_synonym="AAC1; MNAT; NAT-1; NATI"
                     /note="hexamer: AATAAA"
     polyA_site      1380
                     /gene="NAT1"
                     /gene_synonym="AAC1; MNAT; NAT-1; NATI"
                     /note="major polyA site"
     regulatory      1400..1405
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAT1"
                     /gene_synonym="AAC1; MNAT; NAT-1; NATI"
                     /note="hexamer: ATTAAA"
     polyA_site      1421
                     /gene="NAT1"
                     /gene_synonym="AAC1; MNAT; NAT-1; NATI"
                     /note="major polyA site"
     regulatory      1764..1769
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAT1"
                     /gene_synonym="AAC1; MNAT; NAT-1; NATI"
                     /note="hexamer: AATAAA"
     polyA_site      1799
                     /gene="NAT1"
                     /gene_synonym="AAC1; MNAT; NAT-1; NATI"
                     /note="major polyA site"
ORIGIN
        1 acttcctcat agaccttgga tgtgggagga ttgcattcag tctagttcct ggttgccggc
       61 tgaaataacc tgaattcaag ccaggaagaa gcagcaatct gtcttctgga ttaaaactga
      121 agatcaacct actttcaact tactaagaaa ggggatcatg gacattgaag catatcttga
      181 aagaattggc tataagaagt ctaggaacaa attggacttg gaaacattaa ctgacattct
      241 tcaacaccag atccgagctg ttccctttga gaaccttaac atccattgtg gggatgccat
      301 ggacttaggc ttagaggcca tttttgatca agttgtgaga agaaatcggg gtggatggtg
      361 tctccaggtc aatcatcttc tgtactgggc tctgaccact attggttttg agaccacgat
      421 gttgggaggg tatgtttaca gcactccagc caaaaaatac agcactggca tgattcacct
      481 tctcctgcag gtgaccattg atggcaggaa ctacattgtc gatgctgggt ttggacgctc
      541 ataccagatg tggcagcctc tggagttaat ttctgggaag gatcagcctc aggtgccttg
      601 tgtcttccgt ttgacggaag agaatggatt ctggtatcta gaccaaatca gaagggaaca
      661 gtacattcca aatgaagaat ttcttcattc tgatctccta gaagacagca aataccgaaa
      721 aatctactcc tttactctta agcctcgaac aattgaagat tttgagtcta tgaatacata
      781 cctgcagaca tctccatcat ctgtgtttac tagtaaatca ttttgttcct tgcagacccc
      841 agatggggtt cactgtttgg tgggcttcac cctcacccat aggagattca attataagga
      901 caatacagat ctaatagagt tcaagactct gagtgaggaa gaaatagaaa aagtgctgaa
      961 aaatatattt aatatttcct tgcagagaaa gcttgtgccc aaacatggtg atagattttt
     1021 tactatttag aataaggagt aaaacaatct tgtctatttg tcatccagct caccagttat
     1081 caactgacga cctatcatgt atcttctgta cccttacctt attttgaaga aaatcctaga
     1141 catcaaatca tttcacctat aaaaatgtca tcatatataa ttaaacagct ttttaaagaa
     1201 acataaccac aaaccttttc aaataataat aataataata ataaaaaatg tattttaaag
     1261 atggcctgtg gttatcttgg aaattggtga tttatgctag aaagctttta atgttggttt
     1321 attgttgaat tcctagaaaa gttttattgg tagatgagta aataaaatat tgtaaaaaaa
     1381 cttattgtct ataaagtata ttaaaacatt gttggctaat ataatttgaa aaaaagtggt
     1441 tttttggaag acttaggata ttatggtgct acataatttt tcctcgatgc tctcttcctc
     1501 tcatctttct tgtctcttaa attactttac ttccttgcac actttgccat acaagaatga
     1561 acatgagctt ttcttgtgta gatctgagtt gaaatcctgt ggacactggg cgaattactt
     1621 tttagatctg tagctctgac tcctcaggca taaaatggga ataatgcttt tacagtttag
     1681 tggcggaact aaactcccaa aattatttgt tatatggatc aagtaataac gtcagtaatg
     1741 tttttggtac aaagtcatta tttaataaaa gttattgttc catcttgctt gccccccca
//
LOCUS       NM_000665               2172 bp    mRNA    linear   PRI 17-APR-2023
DEFINITION  Homo sapiens acetylcholinesterase (Cartwright blood group) (ACHE),
            transcript variant E4-E6, mRNA.
ACCESSION   NM_000665
VERSION     NM_000665.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2172)
  AUTHORS   Sadia K, Leonel Javeres MN, Tahir F, Shah STA, Habib R, Muneer Z,
            Hussain S and Nurulain SM.
  TITLE     Acetylcholinesterase, pro-inflammatory cytokines, and association of
            ACHE SNP rs 17228602 with male infertility
  JOURNAL   PLoS One 18 (4), e0282579 (2023)
   PUBMED   37027384
  REMARK    GeneRIF: Acetylcholinesterase, pro-inflammatory cytokines, and
            association of ACHE SNP rs 17228602 with male infertility.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2172)
  AUTHORS   Kattner S, Muller J, Glanz K, Manoochehri M, Sylvester C, Vainshtein
            Y, Berger MM, Brenner T and Sohn K.
  TITLE     Identification of two early blood biomarkers ACHE and CLEC12A for
            improved risk stratification of critically ill COVID-19 patients
  JOURNAL   Sci Rep 13 (1), 4388 (2023)
   PUBMED   36928077
  REMARK    GeneRIF: Identification of two early blood biomarkers ACHE and
            CLEC12A for improved risk stratification of critically ill COVID-19
            patients. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2172)
  AUTHORS   Wang Y, Scheffel J, Vera CA, Liu W, Gunzel D, Terhorst-Molawi D,
            Maurer M and Altrichter S.
  TITLE     Impaired sweating in patients with cholinergic urticaria is linked
            to low expression of acetylcholine receptor CHRM3 and acetylcholine
            esterase in sweat glands
  JOURNAL   Front Immunol 13, 955161 (2022)
   PUBMED   35967390
  REMARK    GeneRIF: Impaired sweating in patients with cholinergic urticaria is
            linked to low expression of acetylcholine receptor CHRM3 and
            acetylcholine esterase in sweat glands. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 2172)
  AUTHORS   Naldi M, Brusotti G, Massolini G, Andrisano V, Temporini C and
            Bartolini M.
  TITLE     Bio-Guided Fractionation of Stem Bark Extracts from Phyllanthus
            muellarianus: Identification of Phytocomponents with
            Anti-Cholinesterase Activity
  JOURNAL   Molecules 26 (14), 4376 (2021)
   PUBMED   34299650
  REMARK    GeneRIF: Bio-Guided Fractionation of Stem Bark Extracts from
            Phyllanthus muellarianus: Identification of Phytocomponents with
            Anti-Cholinesterase Activity. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2172)
  AUTHORS   Ohno K, Brengman J, Tsujino A and Engel AG.
  TITLE     Human endplate acetylcholinesterase deficiency caused by mutations
            in the collagen-like tail subunit (ColQ) of the asymmetric enzyme
  JOURNAL   Proc Natl Acad Sci U S A 95 (16), 9654-9659 (1998)
   PUBMED   9689136
REFERENCE   6  (bases 1 to 2172)
  AUTHORS   Bartels CF, Zelinski T and Lockridge O.
  TITLE     Mutation at codon 322 in the human acetylcholinesterase (ACHE) gene
            accounts for YT blood group polymorphism
  JOURNAL   Am J Hum Genet 52 (5), 928-936 (1993)
   PUBMED   8488842
REFERENCE   7  (bases 1 to 2172)
  AUTHORS   Spring FA, Gardner B and Anstee DJ.
  TITLE     Evidence that the antigens of the Yt blood group system are located
            on human erythrocyte acetylcholinesterase
  JOURNAL   Blood 80 (8), 2136-2141 (1992)
   PUBMED   1391965
REFERENCE   8  (bases 1 to 2172)
  AUTHORS   Shafferman A, Kronman C, Flashner Y, Leitner M, Grosfeld H,
            Ordentlich A, Gozes Y, Cohen S, Ariel N, Barak D et al.
  TITLE     Mutagenesis of human acetylcholinesterase. Identification of
            residues involved in catalytic activity and in polypeptide folding
  JOURNAL   J Biol Chem 267 (25), 17640-17648 (1992)
   PUBMED   1517212
REFERENCE   9  (bases 1 to 2172)
  AUTHORS   Ehrlich G, Viegas-Pequignot E, Ginzberg D, Sindel L, Soreq H and
            Zakut H.
  TITLE     Mapping the human acetylcholinesterase gene to chromosome 7q22 by
            fluorescent in situ hybridization coupled with selective PCR
            amplification from a somatic hybrid cell panel and chromosome-sorted
            DNA libraries
  JOURNAL   Genomics 13 (4), 1192-1197 (1992)
   PUBMED   1380483
REFERENCE   10  (bases 1 to 2172)
  AUTHORS   Getman DK, Eubanks JH, Camp S, Evans GA and Taylor P.
  TITLE     The human gene encoding acetylcholinesterase is located on the long
            arm of chromosome 7
  JOURNAL   Am J Hum Genet 51 (1), 170-177 (1992)
   PUBMED   1609795
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC026315.1, SRR3476690.57514.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000241069.11/ ENSP00000241069.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011895.4 and AK223443.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 29, 2018 this sequence version replaced NM_000665.4.
            Summary: Acetylcholinesterase hydrolyzes the neurotransmitter,
            acetylcholine at neuromuscular junctions and brain cholinergic
            synapses, and thus terminates signal transmission. It is also found
            on the red blood cell membranes, where it constitutes the Yt blood
            group antigen. Acetylcholinesterase exists in multiple molecular
            forms which possess similar catalytic properties, but differ in
            their oligomeric assembly and mode of cell attachment to the cell
            surface. It is encoded by the single ACHE gene, and the structural
            diversity in the gene products arises from alternative mRNA
            splicing, and post-translational associations of catalytic and
            structural subunits. The major form of acetylcholinesterase found
            in brain, muscle and other tissues is the hydrophilic species,
            which forms disulfide-linked oligomers with collagenous, or
            lipid-containing structural subunits. The other, alternatively
            spliced form, expressed primarily in the erythroid tissues, differs
            at the C-terminal end, and contains a cleavable hydrophobic peptide
            with a GPI-anchor site. It associates with the membranes through
            the phosphoinositide (PI) moieties added post-translationally. AChE
            activity may constitute a sensitive biomarker of RBC ageing in
            vivo, and thus, may be of aid in understanding the effects of
            transfusion[provided by RefSeq, Sep 2019].
            Transcript Variant: This variant (E4-E6) encodes the hydrophilic
            form of acetylcholinesterase, isoform (E4-E6).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2172
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..2172
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /note="acetylcholinesterase (Cartwright blood group)"
                     /db_xref="GeneID:43"
                     /db_xref="HGNC:HGNC:108"
                     /db_xref="MIM:100740"
     CDS             108..1952
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /EC_number="3.1.1.7"
                     /note="isoform E4-E6 precursor is encoded by transcript
                     variant E4-E6; Yt blood group; apoptosis-related
                     acetylcholinesterase; acetylcholinesterase (Yt blood
                     group)"
                     /codon_start=1
                     /product="acetylcholinesterase isoform E4-E6 precursor"
                     /protein_id="NP_000656.1"
                     /db_xref="CCDS:CCDS5709.1"
                     /db_xref="GeneID:43"
                     /db_xref="HGNC:HGNC:108"
                     /db_xref="MIM:100740"
                     /translation="MRPPQCLLHTPSLASPLLLLLLWLLGGGVGAEGREDAELLVTVRG
                     GRLRGIRLKTPGGPVSAFLGIPFAEPPMGPRRFLPPEPKQPWSGVVDATTFQSVCYQYV
                     DTLYPGFEGTEMWNPNRELSEDCLYLNVWTPYPRPTSPTPVLVWIYGGGFYSGASSLDV
                     YDGRFLVQAERTVLVSMNYRVGAFGFLALPGSREAPGNVGLLDQRLALQWVQENVAAFG
                     GDPTSVTLFGESAGAASVGMHLLSPPSRGLFHRAVLQSGAPNGPWATVGMGEARRRATQ
                     LAHLVGCPPGGTGGNDTELVACLRTRPAQVLVNHEWHVLPQESVFRFSFVPVVDGDFLS
                     DTPEALINAGDFHGLQVLVGVVKDEGSYFLVYGAPGFSKDNESLISRAEFLAGVRVGVP
                     QVSDLAAEAVVLHYTDWLHPEDPARLREALSDVVGDHNVVCPVAQLAGRLAAQGARVYA
                     YVFEHRASTLSWPLWMGVPHGYEIEFIFGIPLDPSRNYTAEEKIFAQRLMRYWANFART
                     GDPNEPRDPKAPQWPPYTAGAQQYVSLDLRPLEVRRGLRAQACAFWNRFLPKLLSATDT
                     LDEAERQWKAEFHRWSSYMVHWKNQFDHYSKQDRCSDL"
     sig_peptide     108..206
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      2155..2160
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /note="hexamer: AATAAA"
     polyA_site      2172
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /note="major polyA site"
ORIGIN
        1 gtcagagtcg gctcagcctg cgccggggaa catcggccgc ctccagctcc cggcgcggcc
       61 cggcccggcc cggctcggcc gcctcagacg ccgcctgccc tgcagccatg aggcccccgc
      121 agtgtctgct gcacacgcct tccctggctt ccccactcct tctcctcctc ctctggctcc
      181 tgggtggagg agtgggggct gagggccggg aggatgcaga gctgctggtg acggtgcgtg
      241 ggggccggct gcggggcatt cgcctgaaga cccccggggg ccctgtctct gctttcctgg
      301 gcatcccctt tgcggagcca cccatgggac cccgtcgctt tctgccaccg gagcccaagc
      361 agccttggtc aggggtggta gacgctacaa ccttccagag tgtctgctac caatatgtgg
      421 acaccctata cccaggtttt gagggcaccg agatgtggaa ccccaaccgt gagctgagcg
      481 aggactgcct gtacctcaac gtgtggacac catacccccg gcctacatcc cccacccctg
      541 tcctcgtctg gatctatggg ggtggcttct acagtggggc ctcctccttg gacgtgtacg
      601 atggccgctt cttggtacag gccgagagga ctgtgctggt gtccatgaac taccgggtgg
      661 gagcctttgg cttcctggcc ctgccgggga gccgagaggc cccgggcaat gtgggtctcc
      721 tggatcagag gctggccctg cagtgggtgc aggagaacgt ggcagccttc gggggtgacc
      781 cgacatcagt gacgctgttt ggggagagcg cgggagccgc ctcggtgggc atgcacctgc
      841 tgtccccgcc cagccggggc ctgttccaca gggccgtgct gcagagcggt gcccccaatg
      901 gaccctgggc cacggtgggc atgggagagg cccgtcgcag ggccacgcag ctggcccacc
      961 ttgtgggctg tcctccaggc ggcactggtg ggaatgacac agagctggta gcctgccttc
     1021 ggacacgacc agcgcaggtc ctggtgaacc acgaatggca cgtgctgcct caagaaagcg
     1081 tcttccggtt ctccttcgtg cctgtggtag atggagactt cctcagtgac accccagagg
     1141 ccctcatcaa cgcgggagac ttccacggcc tgcaggtgct ggtgggtgtg gtgaaggatg
     1201 agggctcgta ttttctggtt tacggggccc caggcttcag caaagacaac gagtctctca
     1261 tcagccgggc cgagttcctg gccggggtgc gggtcggggt tccccaggta agtgacctgg
     1321 cagccgaggc tgtggtcctg cattacacag actggctgca tcccgaggac ccggcacgcc
     1381 tgagggaggc cctgagcgat gtggtgggcg accacaatgt cgtgtgcccc gtggcccagc
     1441 tggctgggcg actggctgcc cagggtgccc gggtctacgc ctacgtcttt gaacaccgtg
     1501 cttccacgct ctcctggccc ctgtggatgg gggtgcccca cggctacgag atcgagttca
     1561 tctttgggat ccccctggac ccctctcgaa actacacggc agaggagaaa atcttcgccc
     1621 agcgactgat gcgatactgg gccaactttg cccgcacagg ggatcccaat gagccccgag
     1681 accccaaggc cccacaatgg cccccgtaca cggcgggggc tcagcagtac gttagtctgg
     1741 acctgcggcc gctggaggtg cggcgggggc tgcgcgccca ggcctgcgcc ttctggaacc
     1801 gcttcctccc caaattgctc agcgccaccg acacgctcga cgaggcggag cgccagtgga
     1861 aggccgagtt ccaccgctgg agctcctaca tggtgcactg gaagaaccag ttcgaccact
     1921 acagcaagca ggatcgctgc tcagacctgt gaccccggcg ggacccccat gtcctccgct
     1981 ccgcccggcc ccctagctgt atatactatt tatttcaggg ctgggctata acacagacga
     2041 gccccagact ctgcccatcc ccaccccacc ccgacgtccc ccggggctcc cggtcctctg
     2101 catgtctcag gctgagctcc ctcccccgcg gtgccttcgc ccctctgggc tgccaataaa
     2161 ctgttacagc ca
//
LOCUS       NM_000666               1422 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens aminoacylase 1 (ACY1), transcript variant 1, mRNA.
ACCESSION   NM_000666
VERSION     NM_000666.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1422)
  AUTHORS   Wang G, Li H and Hou Y.
  TITLE     LncRNA MAGI2-AS3 inhibits tumor progression and angiogenesis by
            regulating ACY1 via interacting with transcription factor HEY1 in
            clear cell renal cell carcinoma
  JOURNAL   Cancer Gene Ther 29 (5), 585-596 (2022)
   PUBMED   34002044
  REMARK    GeneRIF: LncRNA MAGI2-AS3 inhibits tumor progression and
            angiogenesis by regulating ACY1 via interacting with transcription
            factor HEY1 in clear cell renal cell carcinoma.
REFERENCE   2  (bases 1 to 1422)
  AUTHORS   Chen Z, Gao J, Sun J, Wu Z and Wang B.
  TITLE     Aminoacylase 1 (ACY-1) Mediates the Proliferation and Migration of
            Neuroblastoma Cells in Humans Through the ERK/Transforming Growth
            Factor beta (TGF-beta) Signaling Pathways
  JOURNAL   Med Sci Monit 27, e928813 (2021)
   PUBMED   33619241
  REMARK    GeneRIF: Aminoacylase 1 (ACY-1) Mediates the Proliferation and
            Migration of Neuroblastoma Cells in Humans Through the
            ERK/Transforming Growth Factor beta (TGF-beta) Signaling Pathways.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1422)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1422)
  AUTHORS   Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges
            NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A,
            Superti-Furga A, Wevers RA and Omran H.
  TITLE     Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel
            inborn error of metabolism
  JOURNAL   Am J Hum Genet 78 (3), 401-409 (2006)
   PUBMED   16465618
  REMARK    GeneRIF: Genetic deficiency of ACY1 leads to functional ACY1
            deficiency and excretion of N-acetylated amino acids.
REFERENCE   5  (bases 1 to 1422)
  AUTHORS   Van Coster RN, Gerlo EA, Giardina TG, Engelke UF, Smet JE, De
            Praeter CM, Meersschaut VA, De Meirleir LJ, Seneca SH, Devreese B,
            Leroy JG, Herga S, Perrier JP, Wevers RA and Lissens W.
  TITLE     Aminoacylase I deficiency: a novel inborn error of metabolism
  JOURNAL   Biochem Biophys Res Commun 338 (3), 1322-1326 (2005)
   PUBMED   16274666
  REMARK    GeneRIF: first report of a patient with aminoacylase I deficiency
REFERENCE   6  (bases 1 to 1422)
  AUTHORS   Mitta M, Kato I and Tsunasawa S.
  TITLE     The nucleotide sequence of human aminoacylase-1
  JOURNAL   Biochim Biophys Acta 1174 (2), 201-203 (1993)
   PUBMED   8357837
REFERENCE   7  (bases 1 to 1422)
  AUTHORS   Cook RM, Burke BJ, Buchhagen DL, Minna JD and Miller YE.
  TITLE     Human aminoacylase-1. Cloning, sequence, and expression analysis of
            a chromosome 3p21 gene inactivated in small cell lung cancer
  JOURNAL   J Biol Chem 268 (23), 17010-17017 (1993)
   PUBMED   8394326
REFERENCE   8  (bases 1 to 1422)
  AUTHORS   Miller YE, Drabkin H, Jones C and Fisher JH.
  TITLE     Human aminoacylase-1: cloning, regional assignment to distal
            chromosome 3p21.1, and identification of a cross-hybridizing
            sequence on chromosome 18
  JOURNAL   Genomics 8 (1), 149-154 (1990)
   PUBMED   1707030
REFERENCE   9  (bases 1 to 1422)
  AUTHORS   Miller YE, Minna JD and Gazdar AF.
  TITLE     Lack of expression of aminoacylase-1 in small cell lung cancer.
            Evidence for inactivation of genes encoded by chromosome 3p
  JOURNAL   J Clin Invest 83 (6), 2120-2124 (1989)
   PUBMED   2542383
REFERENCE   10  (bases 1 to 1422)
  AUTHORS   Naylor,S.L., Shows,T.B. and Klebe,R.J.
  TITLE     Bioautographic visualization of aminoacylase-1: assignment of the
            structural gene ACY-1 to chromosome 3 in man
  JOURNAL   Somatic Cell Genet 5 (1), 11-21 (1979)
   PUBMED   373141
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.76818.1,
            SRR5189658.157012.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000636358.2/ ENSP00000490149.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BE269642.1 and L07548.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000666.2.
            Summary: This gene encodes a cytosolic, homodimeric, zinc-binding
            enzyme that catalyzes the hydrolysis of acylated L-amino acids to
            L-amino acids and an acyl group, and has been postulated to
            function in the catabolism and salvage of acylated amino acids.
            This gene is located on chromosome 3p21.1, a region reduced to
            homozygosity in small-cell lung cancer (SCLC), and its expression
            has been reported to be reduced or undetectable in SCLC cell lines
            and tumors. The amino acid sequence of human aminoacylase-1 is
            highly homologous to the porcine counterpart, and this enzyme is
            the first member of a new family of zinc-binding enzymes. Mutations
            in this gene cause aminoacylase-1 deficiency, a metabolic disorder
            characterized by central nervous system defects and increased
            urinary excretion of N-acetylated amino acids. Alternative splicing
            of this gene results in multiple transcript variants. Read-through
            transcription also exists between this gene and the upstream
            ABHD14A (abhydrolase domain containing 14A) gene, as represented in
            GeneID:100526760. A related pseudogene has been identified on
            chromosome 18. [provided by RefSeq, Nov 2010].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a). Both variants 1 and
            2 encode isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1422
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.2"
     gene            1..1422
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /note="aminoacylase 1"
                     /db_xref="GeneID:95"
                     /db_xref="HGNC:HGNC:177"
                     /db_xref="MIM:104620"
     misc_feature    32..34
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /note="upstream in-frame stop codon"
     CDS             74..1300
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /EC_number="3.5.1.14"
                     /note="isoform a is encoded by transcript variant 1;
                     acylase; N-acyl-L-amino-acid amidohydrolase; epididymis
                     secretory protein Li 5"
                     /codon_start=1
                     /product="aminoacylase-1 isoform a"
                     /protein_id="NP_000657.1"
                     /db_xref="CCDS:CCDS2844.1"
                     /db_xref="GeneID:95"
                     /db_xref="HGNC:HGNC:177"
                     /db_xref="MIM:104620"
                     /translation="MTSKGPEEEHPSVTLFRQYLRIRTVQPKPDYGAAVAFFEETARQL
                     GLGCQKVEVAPGYVVTVLTWPGTNPTLSSILLNSHTDVVPVFKEHWSHDPFEAFKDSEG
                     YIYARGAQDMKCVSIQYLEAVRRLKVEGHRFPRTIHMTFVPDEEVGGHQGMELFVQRPE
                     FHALRAGFALDEGIANPTDAFTVFYSERSPWWVRVTSTGRPGHASRFMEDTAAEKLHKV
                     VNSILAFREKEWQRLQSNPHLKEGSVTSVNLTKLEGGVAYNVIPATMSASFDFRVAPDV
                     DFKAFEEQLQSWCQAAGEGVTLEFAQKWMHPQVTPTDDSNPWWAAFSRVCKDMNLTLEP
                     EIMPAATDNRYIRAVGVPALGFSPMNRTPVLLHDHDERLHEAVFLRGVDIYTRLLPALA
                     SVPALPSDS"
     regulatory      1380..1385
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /note="hexamer: AATAAA"
     polyA_site      1422
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /note="major polyA site"
ORIGIN
        1 acagtcaggg aagggcgctg agaggcgagc gtgagcccag cgacaggaga gtgagctcac
       61 cacgcgcagc gccatgacca gcaagggtcc cgaggaggag cacccatcgg tgacgctctt
      121 ccgccagtac ctgcgtatcc gcactgtcca gcccaagcct gactatggag ctgctgtggc
      181 tttctttgag gagacagccc gccagctggg cctgggctgt cagaaagtag aggtggcacc
      241 tggctatgtg gtgaccgtgt tgacctggcc aggcaccaac cctacactct cctccatctt
      301 gctcaactcc cacacggatg tggtgcctgt cttcaaggaa cattggagtc acgacccctt
      361 tgaggccttc aaggattctg agggctacat ctatgccagg ggtgcccagg acatgaagtg
      421 cgtcagcatc cagtacctgg aagctgtgag gaggctgaag gtggagggcc accggttccc
      481 cagaaccatc cacatgacct ttgtgcctga tgaggaggtt gggggtcacc aaggcatgga
      541 gctgttcgtg cagcggcctg agttccacgc cctgagggca ggctttgccc tggatgaggg
      601 catagccaat cccactgatg ccttcactgt cttttatagt gagcggagtc cctggtgggt
      661 gcgggttacc agcactggga ggccaggcca tgcctcacgc ttcatggagg acacagcagc
      721 agagaagctg cacaaggttg taaactccat cctggcattc cgggagaagg aatggcagag
      781 gctgcagtca aacccccacc tgaaagaggg gtccgtgacc tccgtgaacc tgactaagct
      841 agagggtggc gtggcctata acgtgatacc tgccaccatg agcgccagct ttgacttccg
      901 tgtggcaccg gatgtggact tcaaggcttt tgaggagcag ctgcagagct ggtgccaggc
      961 agctggcgag ggggtcaccc tagagtttgc tcagaagtgg atgcaccccc aagtgacacc
     1021 tactgatgac tcaaaccctt ggtgggcagc ttttagccgg gtctgcaagg atatgaacct
     1081 cactctggag cctgagatca tgcctgctgc cactgacaac cgctatatcc gcgcggtggg
     1141 ggtcccagct ctaggcttct cacccatgaa ccgcacacct gtgctgctgc acgaccacga
     1201 tgaacggctg catgaggctg tgttcctccg tggggtggac atatatacac gcctgctgcc
     1261 tgcccttgcc agtgtgcctg ccctgcccag tgacagctga gccctggaac tcctaaacct
     1321 ttgcccctgg ggcttccatc ccaaccagtg ccaaggacct cctcttcccc cttccaaata
     1381 ataaagtcta tggacagggc tgtctctgaa gtactaacac aa
//
LOCUS       NM_000667               1454 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide
            (ADH1A), mRNA.
ACCESSION   NM_000667
VERSION     NM_000667.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1454)
  AUTHORS   Khmelinskii I and Makarov VI.
  TITLE     Contrary to consensus, oxidation of ethanol by human alcohol
            dehydrogenase (ADH) 1A is activated by ATP
  JOURNAL   Biochimie 195, 67-70 (2022)
   PUBMED   34742856
  REMARK    GeneRIF: Contrary to consensus, oxidation of ethanol by human
            alcohol dehydrogenase (ADH) 1A is activated by ATP.
REFERENCE   2  (bases 1 to 1454)
  AUTHORS   Lee YJ, Yoo MG, Kim HK, Jang HB, Park KJ, Lee HJ, Kim SG and Park
            SI.
  TITLE     The association between alcohol metabolism and genetic variants of
            ADH1A, SRPRB, and PGM1 in Korea
  JOURNAL   Alcohol 79, 137-145 (2019)
   PUBMED   31002879
  REMARK    GeneRIF: Variation of ADH1A was significantly associated with blood
            acetaldehyde concentrations, which may contribute to slow alcohol
            metabolism and result in increased blood acetaldehyde levels in
            Korean subjects.
REFERENCE   3  (bases 1 to 1454)
  AUTHORS   Cui Q, Peng L, Wei L, Chang J, Tan W, Luo Y, Huang X, Zhao Y, Li J,
            Chu J, Shao M, Zhang C, Li C, Tan W, Lin D and Wu C.
  TITLE     Genetic variant repressing ADH1A expression confers susceptibility
            to esophageal squamous-cell carcinoma
  JOURNAL   Cancer Lett 421, 43-50 (2018)
   PUBMED   29248712
  REMARK    GeneRIF: We demonstrated for the first time that rs1154402C>G change
            in in intron 1 of ADH5 might create a silencer, repressing ADH1A
            transcription via long-range interaction with ADH1A promoter
REFERENCE   4  (bases 1 to 1454)
  AUTHORS   Jelski,W., Wolszczak-Biedrzycka,B., Zasimowicz-Majewska,E.,
            Orywal,K., Piechota,J., Lapinski,T.W., Bednarczyk,M. and
            Szmitkowski,M.
  TITLE     The Activity of Alcohol Dehydrogenase Isoenzymes and Aldehyde
            Dehydrogenase in the Sera of Patients with Autoimmune Hepatitis
  JOURNAL   Clin Lab 64 (4), 477-481 (2018)
   PUBMED   29739065
  REMARK    GeneRIF: The activity of total alcohol dehydrogenase (ADH) and class
            I isoenzymes in the sera of autoimmune hepatitis patients is
            increased and aldehyde dehydrogenase (ALDH) levels were unchanged.
REFERENCE   5  (bases 1 to 1454)
  AUTHORS   Orywal K, Jelski W, Werel T and Szmitkowski M.
  TITLE     The Diagnostic Significance of Serum Alcohol Dehydrogenase
            Isoenzymes and Aldehyde Dehydrogenase Activity in Prostate Cancer
            Patients
  JOURNAL   Anticancer Res 37 (9), 4961-4965 (2017)
   PUBMED   28870918
  REMARK    GeneRIF: High ADH expression is associated with Prostate Cancer.
REFERENCE   6  (bases 1 to 1454)
  AUTHORS   van Ooij C, Snyder RC, Paeper BW and Duester G.
  TITLE     Temporal expression of the human alcohol dehydrogenase gene family
            during liver development correlates with differential promoter
            activation by hepatocyte nuclear factor 1, CCAAT/enhancer-binding
            protein alpha, liver activator protein, and D-element-binding
            protein
  JOURNAL   Mol Cell Biol 12 (7), 3023-3031 (1992)
   PUBMED   1620113
REFERENCE   7  (bases 1 to 1454)
  AUTHORS   Stewart MJ, McBride MS, Winter LA and Duester G.
  TITLE     Promoters for the human alcohol dehydrogenase genes ADH1, ADH2, and
            ADH3: interaction of CCAAT/enhancer-binding protein with elements
            flanking the ADH2 TATA box
  JOURNAL   Gene 90 (2), 271-279 (1990)
   PUBMED   2169444
REFERENCE   8  (bases 1 to 1454)
  AUTHORS   Yasunami M, Kikuchi I, Sarapata D and Yoshida A.
  TITLE     The human class I alcohol dehydrogenase gene cluster: three genes
            are tandemly organized in an 80-kb-long segment of the genome
  JOURNAL   Genomics 7 (2), 152-158 (1990)
   PUBMED   2347582
REFERENCE   9  (bases 1 to 1454)
  AUTHORS   Tsukahara M and Yoshida A.
  TITLE     Chromosomal assignment of the alcohol dehydrogenase cluster locus to
            human chromosome 4q21-23 by in situ hybridization
  JOURNAL   Genomics 4 (2), 218-220 (1989)
   PUBMED   2737681
REFERENCE   10  (bases 1 to 1454)
  AUTHORS   Lange,L.G., Sytkowski,A.J. and Vallee,B.L.
  TITLE     Human liver alcohol dehydrogenase: purification, composition, and
            catalytic features
  JOURNAL   Biochemistry 15 (21), 4687-4693 (1976)
   PUBMED   9982
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK290558.1, M12963.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA1968968
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000209668.3/ ENSP00000209668.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290558.1.
            On Nov 23, 2018 this sequence version replaced NM_000667.3.
            Summary: This gene encodes a member of the alcohol dehydrogenase
            family. The encoded protein is the alpha subunit of class I alcohol
            dehydrogenase, which consists of several homo- and heterodimers of
            alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the
            oxidation of alcohols to aldehydes. This gene is active in the
            liver in early fetal life but only weakly active in adult liver.
            This gene is found in a cluster with six additional alcohol
            dehydrogenase genes, including those encoding the beta and gamma
            subunits, on the long arm of chromosome 4. Mutations in this gene
            may contribute to variation in certain personality traits and
            substance dependence. [provided by RefSeq, Nov 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1454
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q23"
     gene            1..1454
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /note="alcohol dehydrogenase 1A (class I), alpha
                     polypeptide"
                     /db_xref="GeneID:124"
                     /db_xref="HGNC:HGNC:249"
                     /db_xref="MIM:103700"
     CDS             72..1199
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /EC_number="1.1.1.1"
                     /note="ADH, alpha subunit; alcohol dehydrogenase 1 (class
                     I), alpha polypeptide; aldehyde reductase; alcohol
                     dehydrogenase subunit alpha"
                     /codon_start=1
                     /product="alcohol dehydrogenase 1A"
                     /protein_id="NP_000658.1"
                     /db_xref="CCDS:CCDS3648.1"
                     /db_xref="GeneID:124"
                     /db_xref="HGNC:HGNC:249"
                     /db_xref="MIM:103700"
                     /translation="MSTAGKVIKCKAAVLWELKKPFSIEEVEVAPPKAHEVRIKMVAVG
                     ICGTDDHVVSGTMVTPLPVILGHEAAGIVESVGEGVTTVKPGDKVIPLAIPQCGKCRIC
                     KNPESNYCLKNDVSNPQGTLQDGTSRFTCRRKPIHHFLGISTFSQYTVVDENAVAKIDA
                     ASPLEKVCLIGCGFSTGYGSAVNVAKVTPGSTCAVFGLGGVGLSAIMGCKAAGAARIIA
                     VDINKDKFAKAKELGATECINPQDYKKPIQEVLKEMTDGGVDFSFEVIGRLDTMMASLL
                     CCHEACGTSVIVGVPPDSQNLSMNPMLLLTGRTWKGAILGGFKSKECVPKLVADFMAKK
                     FSLDALITHVLPFEKINEGFDLLHSGKSIRTILMF"
     misc_feature    75..77
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:3013304; propagated from
                     UniProtKB/Swiss-Prot (P07327.2); acetylation site"
     misc_feature    138..140
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P00325; propagated from
                     UniProtKB/Swiss-Prot (P07327.2); phosphorylation site"
     regulatory      1433..1438
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /note="hexamer: AATAAA"
     polyA_site      1454
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /note="major polyA site"
ORIGIN
        1 atgcacttga gcagggaaga aatccacaag gactcaccag tctcctggtc tgcagagaag
       61 acagaatcaa catgagcaca gcaggaaaag taatcaaatg caaagcagct gtgctatggg
      121 agttaaagaa acccttttcc attgaggagg tggaggttgc acctcctaag gcccatgaag
      181 ttcgtattaa gatggtggct gtaggaatct gtggcacaga tgaccacgtg gttagtggta
      241 ccatggtgac cccacttcct gtgattttag gccatgaggc agccggcatc gtggagagtg
      301 ttggagaagg ggtgactaca gtcaaaccag gtgataaagt catcccactc gctattcctc
      361 agtgtggaaa atgcagaatt tgtaaaaacc cggagagcaa ctactgcttg aaaaacgatg
      421 taagcaatcc tcaggggacc ctgcaggatg gcaccagcag gttcacctgc aggaggaagc
      481 ccatccacca cttccttggc atcagcacct tctcacagta cacagtggtg gatgaaaatg
      541 cagtagccaa aattgatgca gcctcgcctc tagagaaagt ctgtctcatt ggctgtggat
      601 tttcaactgg ttatgggtct gcagtcaatg ttgccaaggt caccccaggc tctacctgtg
      661 ctgtgtttgg cctgggaggg gtcggcctat ctgctattat gggctgtaaa gcagctgggg
      721 cagccagaat cattgcggtg gacatcaaca aggacaaatt tgcaaaggcc aaagagttgg
      781 gtgccactga atgcatcaac cctcaagact acaagaaacc catccaggag gtgctaaagg
      841 aaatgactga tggaggtgtg gatttttcat ttgaagtcat cggtcggctt gacaccatga
      901 tggcttccct gttatgttgt catgaggcat gtggcacaag tgtcatcgta ggggtacctc
      961 ctgattccca aaacctctca atgaacccta tgctgctact gactggacgt acctggaagg
     1021 gagctattct tggtggcttt aaaagtaaag aatgtgtccc aaaacttgtg gctgatttta
     1081 tggctaagaa gttttcattg gatgcattaa taacccatgt tttacctttt gaaaaaataa
     1141 atgaaggatt tgacctgctt cactctggga aaagtatccg taccattctg atgttttgag
     1201 acaatacaga tgttttccct tgtggcagtc ttcagcctcc tctaccctac atgatctgga
     1261 gcaacagctg ggaaatatca ttaattctgc tcatcacaga ttttatcaat aaattacatt
     1321 tgggggcttt ccaaagaaat ggaaattgat gtaaaattat ttttcaagca aatgtttaaa
     1381 atccaaatga gaactaaata aagtgttgaa catcagctgg ggaattgaag ccaataaacc
     1441 ttccttctta acca
//
LOCUS       NM_000668               4067 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide
            (ADH1B), transcript variant 1, mRNA.
ACCESSION   NM_000668
VERSION     NM_000668.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4067)
  AUTHORS   Kukowka A, Brzuchalski B, Kurzawski M, Malinowski D and Bialecka MA.
  TITLE     ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of Fetal
            Alcohol Spectrum Disorder
  JOURNAL   Genes (Basel) 14 (7), 1392 (2023)
   PUBMED   37510297
  REMARK    GeneRIF: ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of
            Fetal Alcohol Spectrum Disorder. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4067)
  AUTHORS   Zhou T, Im PK, Hariri P, Du H, Guo Y, Lin K, Yang L, Yu C, Chen Y,
            Sohoni R, Avery D, Guan M, Yang M, Lv J, Clarke R, Li L, Walters RG,
            Chen Z and Millwood IY.
  CONSRTM   China Kadoorie Biobank Group
  TITLE     Associations of alcohol intake with subclinical carotid
            atherosclerosis in 22,000 Chinese adults
  JOURNAL   Atherosclerosis 377, 34-42 (2023)
   PUBMED   37392542
  REMARK    GeneRIF: Associations of alcohol intake with subclinical carotid
            atherosclerosis in 22,000 Chinese adults.
REFERENCE   3  (bases 1 to 4067)
  AUTHORS   Hoang YTT, Nguyen YT, Vu LT, Bui HTT, Nguyen QV, Vu NP, Nguyen TD
            and Nguyen HH.
  TITLE     Association of ADH1B rs1229984, ADH1C rs698, and ALDH2 rs671 with
            Alcohol abuse and Alcoholic Cirrhosis in People Living in Northeast
            Vietnam
  JOURNAL   Asian Pac J Cancer Prev 24 (6), 2073-2082 (2023)
   PUBMED   37378938
  REMARK    GeneRIF: Association of ADH1B rs1229984, ADH1C rs698, and ALDH2
            rs671 with Alcohol abuse and Alcoholic Cirrhosis in People Living in
            Northeast Vietnam. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4067)
  AUTHORS   Im PK, Wright N, Yang L, Chan KH, Chen Y, Guo Y, Du H, Yang X, Avery
            D, Wang S, Yu C, Lv J, Clarke R, Chen J, Collins R, Walters RG, Peto
            R, Li L, Chen Z and Millwood IY.
  CONSRTM   China Kadoorie Biobank Collaborative Group
  TITLE     Alcohol consumption and risks of more than 200 diseases in Chinese
            men
  JOURNAL   Nat Med 29 (6), 1476-1486 (2023)
   PUBMED   37291211
  REMARK    GeneRIF: Alcohol consumption and risks of more than 200 diseases in
            Chinese men.
REFERENCE   5  (bases 1 to 4067)
  AUTHORS   Mure K, Ishikawa H, Mutoh M, Horinaka M, Otani T, Suzuki S,
            Wakabayashi K and Sakai T.
  CONSRTM   J-FAPP Study IV group
  TITLE     Efficacy of Low-Dose Aspirin in Colorectal Cancer Risk Prevention is
            Dependent on ADH1B and ALDH2 Genotype in Japanese Familial
            Adenomatous Polyposis Patients
  JOURNAL   Cancer Res Commun 2 (6), 483-488 (2022)
   PUBMED   36923554
  REMARK    GeneRIF: Efficacy of Low-Dose Aspirin in Colorectal Cancer Risk
            Prevention is Dependent on ADH1B and ALDH2 Genotype in Japanese
            Familial Adenomatous Polyposis Patients. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 4067)
  AUTHORS   Hurley TD, Bosron WF, Hamilton JA and Amzel LM.
  TITLE     Structure of human beta 1 beta 1 alcohol dehydrogenase: catalytic
            effects of non-active-site substitutions
  JOURNAL   Proc Natl Acad Sci U S A 88 (18), 8149-8153 (1991)
   PUBMED   1896463
REFERENCE   7  (bases 1 to 4067)
  AUTHORS   Winter LA, Stewart MJ, Shean ML, Dong Y, Poellinger L, Okret S,
            Gustafsson JA and Duester G.
  TITLE     A hormone response element upstream from the human alcohol
            dehydrogenase gene ADH2 consists of three tandem glucocorticoid
            receptor binding sites
  JOURNAL   Gene 91 (2), 233-240 (1990)
   PUBMED   2210383
REFERENCE   8  (bases 1 to 4067)
  AUTHORS   Stewart MJ, McBride MS, Winter LA and Duester G.
  TITLE     Promoters for the human alcohol dehydrogenase genes ADH1, ADH2, and
            ADH3: interaction of CCAAT/enhancer-binding protein with elements
            flanking the ADH2 TATA box
  JOURNAL   Gene 90 (2), 271-279 (1990)
   PUBMED   2169444
REFERENCE   9  (bases 1 to 4067)
  AUTHORS   Carr LG and Edenberg HJ.
  TITLE     cis-acting sequences involved in protein binding and in vitro
            transcription of the human alcohol dehydrogenase gene ADH2
  JOURNAL   J Biol Chem 265 (3), 1658-1664 (1990)
   PUBMED   2295648
REFERENCE   10  (bases 1 to 4067)
  AUTHORS   Lange,L.G., Sytkowski,A.J. and Vallee,B.L.
  TITLE     Human liver alcohol dehydrogenase: purification, composition, and
            catalytic features
  JOURNAL   Biochemistry 15 (21), 4687-4693 (1976)
   PUBMED   9982
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: FJ224285.1, AF153821.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2162895,
            SAMN03267776 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000305046.13/ ENSP00000306606.8
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC033009.2, AF153821.1,
            AK301018.1, AC097530.3 and BU687181.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000668.5.
            Summary: The protein encoded by this gene is a member of the
            alcohol dehydrogenase family. Members of this enzyme family
            metabolize a wide variety of substrates, including ethanol,
            retinol, other aliphatic alcohols, hydroxysteroids, and lipid
            peroxidation products. This encoded protein, consisting of several
            homo- and heterodimers of alpha, beta, and gamma subunits, exhibits
            high activity for ethanol oxidation and plays a major role in
            ethanol catabolism. Three genes encoding alpha, beta and gamma
            subunits are tandemly organized in a genomic segment as a gene
            cluster. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Nov 2013].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4067
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q23"
     gene            1..4067
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="alcohol dehydrogenase 1B (class I), beta
                     polypeptide"
                     /db_xref="GeneID:125"
                     /db_xref="HGNC:HGNC:250"
                     /db_xref="MIM:103720"
     CDS             71..1198
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /EC_number="1.1.1.105"
                     /note="isoform 1 is encoded by transcript variant 1; ADH,
                     beta subunit; alcohol dehydrogenase 2 (class I), beta
                     polypeptide; aldehyde reductase; alcohol dehydrogenase
                     subunit beta; epididymis secretory protein Li 117;
                     all-trans-retinol dehydrogenase [NAD(+)] ADH1B"
                     /codon_start=1
                     /product="all-trans-retinol dehydrogenase [NAD(+)] ADH1B
                     isoform 1"
                     /protein_id="NP_000659.2"
                     /db_xref="CCDS:CCDS34033.1"
                     /db_xref="GeneID:125"
                     /db_xref="HGNC:HGNC:250"
                     /db_xref="MIM:103720"
                     /translation="MSTAGKVIKCKAAVLWEVKKPFSIEDVEVAPPKAYEVRIKMVAVG
                     ICHTDDHVVSGNLVTPLPVILGHEAAGIVESVGEGVTTVKPGDKVIPLFTPQCGKCRVC
                     KNPESNYCLKNDLGNPRGTLQDGTRRFTCRGKPIHHFLGTSTFSQYTVVDENAVAKIDA
                     ASPLEKVCLIGCGFSTGYGSAVNVAKVTPGSTCAVFGLGGVGLSAVMGCKAAGAARIIA
                     VDINKDKFAKAKELGATECINPQDYKKPIQEVLKEMTDGGVDFSFEVIGRLDTMMASLL
                     CCHEACGTSVIVGVPPASQNLSINPMLLLTGRTWKGAVYGGFKSKEGIPKLVADFMAKK
                     FSLDALITHVLPFEKINEGFDLLHSGKSIRTVLTF"
     misc_feature    74..76
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:6391920; propagated from
                     UniProtKB/Swiss-Prot (P00325.3); acetylation site"
     misc_feature    137..139
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P00325.3); phosphorylation site"
     misc_feature    173..175
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P00325.3); phosphorylation site"
     regulatory      1394..1399
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="hexamer: AATAAA"
     polyA_site      1412
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="major polyA site"
     regulatory      1765..1770
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="hexamer: AATAAA"
     polyA_site      1790
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="major polyA site"
     polyA_site      2459
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
     regulatory      2516..2521
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="hexamer: AGTAAA"
     polyA_site      2537
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="major polyA site"
     regulatory      2632..2637
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="hexamer: ATTAAA"
     polyA_site      2656
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
     regulatory      3823..3828
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="hexamer: AATATA"
     polyA_site      3841
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
     regulatory      3934..3939
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="hexamer: AATAGA"
     polyA_site      3947
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
     polyA_site      3955
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
     regulatory      4046..4051
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="hexamer: AATAAA"
     polyA_site      4067
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
ORIGIN
        1 atgcactcaa gcagagaaga aatccacaaa gactcacagt ctgctggtgg gcagagaaga
       61 cagaaacgac atgagcacag caggaaaagt aatcaaatgc aaagcagctg tgctatggga
      121 ggtaaagaaa cccttttcca ttgaggatgt ggaggttgca cctcctaagg cttatgaagt
      181 tcgcattaag atggtggctg taggaatctg tcacacagat gaccacgtgg ttagtggcaa
      241 cctggtgacc ccccttcctg tgattttagg ccatgaggca gccggcatcg tggagagtgt
      301 tggagaaggg gtgactacag tcaaaccagg tgataaagtc atcccgctct ttactcctca
      361 gtgtggaaaa tgcagagttt gtaaaaaccc ggagagcaac tactgcttga aaaatgatct
      421 aggcaatcct cgggggaccc tgcaggatgg caccaggagg ttcacctgca gggggaagcc
      481 cattcaccac ttccttggca ccagcacctt ctcccagtac acggtggtgg atgagaatgc
      541 agtggccaaa attgatgcag cctcgcccct ggagaaagtc tgcctcattg gctgtggatt
      601 ctcgactggt tatgggtctg cagttaacgt tgccaaggtc accccaggct ctacctgtgc
      661 tgtgtttggc ctgggagggg tcggcctatc tgctgttatg ggctgtaaag cagctggagc
      721 agccagaatc attgcggtgg acatcaacaa ggacaaattt gcaaaggcca aagagttggg
      781 tgccactgaa tgcatcaacc ctcaagacta caagaaaccc attcaggaag tgctaaagga
      841 aatgactgat ggaggtgtgg atttttcgtt tgaagtcatc ggtcggcttg acaccatgat
      901 ggcttccctg ttatgttgtc atgaggcatg tggcacaagc gtcatcgtag gggtacctcc
      961 tgcttcccag aacctctcaa taaaccctat gctgctactg actggacgca cctggaaggg
     1021 ggctgtttat ggtggcttta agagtaaaga aggtatccca aaacttgtgg ctgattttat
     1081 ggctaagaag ttttcactgg atgcgttaat aacccatgtt ttaccttttg aaaaaataaa
     1141 tgaaggattt gacctgcttc actctgggaa aagtatccgt accgtcctga cgttttgagg
     1201 caatagagat gccttcccct gtagcagtct tcagcctcct ctaccctaca agatctggag
     1261 caacagctag gaaatatcat taattcagct cttcagagat gttatcaata aattacacat
     1321 gggggctttc caaagaaatg gaaattgatg ggaaattatt tttcaggaaa atttaaaatt
     1381 caagtgagaa gtaaataaag tgttgaacat cagctgggga attgaagcca acaaaccttc
     1441 cttcttaacc attctactgt gtcacctttg ccattgagga aaaatattcc tgtgacttct
     1501 tgcatttttg gtatcttcat aatctttagt catcgaatcc cagtggaggg gaccctttta
     1561 cttgccctga acatacacat gctgggccat tgtgattgaa gtcttctaac tctgtctcag
     1621 ttttcactgt cgacattttc ctttttctaa taaaaatgta ccaaatccct ggggtaaaag
     1681 ctagggtaag gtaaaggata gactcacatt tacaagtagt gaaggtccaa gagttctaaa
     1741 tacaggaaat ttcttaggaa ctcaaataaa atgccccaca ttttactaca gtaaatggca
     1801 gtgtttttat gacttttata ctatttcttt atggtcgata tacaattgat tttttaaaat
     1861 aatagcagat ttcttgcttc atatgacaaa gcctcaatta ctaattgtaa aaactgaact
     1921 attcccagaa tcatgttcaa aaaatctgta atttttgctg atgaaagtgc ttcattgact
     1981 aaacagtatt agtttgtggc tataaatgat tatttagatg atgactgaaa atgtgtataa
     2041 agtaattaaa agtaatatgg tggctttaag tgtagagatg ggatggcaaa tgctgtgaat
     2101 gcagaatgta aaattggtaa ctaagaaatg gcacaaacac cttaagcaat atattttcct
     2161 agtagatata tatatacaca tacatatata cacatataca aatgtatatt tttgcaaaat
     2221 tgttttcaat ctagaacttt tctattaact accatgtctt aaaatcaagt ctataatcct
     2281 agcattagtt taatattttg aatatgtaaa gacctgtgtt aatgctttgt taatgctttt
     2341 cccactctca tttgttaatg ctttcccact ctcaggggaa ggatttgcat tttgagcttt
     2401 atctctaaat gtgacatgca aagattattc ctggtaaagg aggtagctgt ctccaaaaat
     2461 gctattgttg caatatctac attctatttc atattatgaa agaccttaga cataaagtaa
     2521 aatagtttat catttactgt gtgatcttca gtaagtctct caggctctct gagcttgttc
     2581 atcctttgtt ttgaaaaaat tactcaacca atccattaca gcttaaccaa gattaaatgg
     2641 gatgatgtta atgaaagagc ttcgccaatt aagaagggcc atgtaaatgt gggtaacctg
     2701 attgttttgt caaaaatgct aaagcggggt ggggggtggc gcagtggctt atccctgtaa
     2761 tcccagcact ttgggaggtc aagacgggtg gatgacctga ggtcaggagt ttgagaccag
     2821 cctggtcaac atggtgaaac cccatctcta ctaaaaatac aaaaatttgc caggcatggt
     2881 ggcaggtggc tgtaatccca gctactcagg aggctgaggc aagagaatcg ctggagcctg
     2941 ggaggcggag gttgcagtga gcagaaatct tgccactgca cagcagccta ggcgacaaga
     3001 gcaaaactct gtcaaaagaa aagaaaagaa aatgctgaag gagttactca gggtcaagaa
     3061 agttttcaga atgtccgtaa gataacatca tcatgggaca ctacctgttg ctgggtgctc
     3121 tgcggctttt acactgatgc tgattgtgtg agatccagaa aaagaaaatg gagttctaca
     3181 tgcccatctc acagcagggt catcaaatcc tgctagtgac acagaagctg acatccagct
     3241 cccacccgcc ttcctcccag gttcggggag caggtagagt gggagccatt aggtgggctc
     3301 tgccagtgtt gtcatagagt ggcaagtcct ccatgggatg ggagtggcat gtgggagcct
     3361 tctgcatcat gcactatgaa aaaagaaaat ttactatggg gcaagtggtt catatagtta
     3421 agtgattgta tatatatata tatatatata tatatatata tatatatata tatatacact
     3481 atggggcaag tggttcatat agttaagtga ttgtatatat atatatatat atatatgtat
     3541 tccagtgtag aaagtattgg ctgggtctgt aatcaagtat tccacagaag tgccttcata
     3601 ggtgctgaaa caggattatg agagtgacag acacaggact gaagacaggg agaaaatgtg
     3661 catggctgtg agaatatatt gctttgattc tttgacttct catgatatat gaaaacaaat
     3721 aaagtggggg ggggtgactt caataatatc acgaacatat ttaaaatgaa attctgagca
     3781 tggagaaaaa tttcaaattc tggtataaac aaataatcta aaaatataga taaggaaaaa
     3841 atgttttcat ttttttggtc atattgattt gggtcatata tgattgacca aaaaaaaaga
     3901 tatttctaaa atcctggtgc tttttcattt aaaaatagac aaccaaagag gaaaatgaac
     3961 aatgatggaa attcgtggaa gaggaaacta aaatggcaaa atagcatatt aaatggcact
     4021 gagccttggt gtgatcaaaa aaaaaaataa agcaaaatga gatatta
//
LOCUS       NM_000669               1454 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide
            (ADH1C), transcript variant 1, mRNA.
ACCESSION   NM_000669
VERSION     NM_000669.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1454)
  AUTHORS   Kukowka A, Brzuchalski B, Kurzawski M, Malinowski D and Bialecka MA.
  TITLE     ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of Fetal
            Alcohol Spectrum Disorder
  JOURNAL   Genes (Basel) 14 (7), 1392 (2023)
   PUBMED   37510297
  REMARK    GeneRIF: ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of
            Fetal Alcohol Spectrum Disorder. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1454)
  AUTHORS   Hoang YTT, Nguyen YT, Vu LT, Bui HTT, Nguyen QV, Vu NP, Nguyen TD
            and Nguyen HH.
  TITLE     Association of ADH1B rs1229984, ADH1C rs698, and ALDH2 rs671 with
            Alcohol abuse and Alcoholic Cirrhosis in People Living in Northeast
            Vietnam
  JOURNAL   Asian Pac J Cancer Prev 24 (6), 2073-2082 (2023)
   PUBMED   37378938
  REMARK    GeneRIF: Association of ADH1B rs1229984, ADH1C rs698, and ALDH2
            rs671 with Alcohol abuse and Alcoholic Cirrhosis in People Living in
            Northeast Vietnam. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1454)
  AUTHORS   Hoang YTT, Nguyen YT, Nguyen HD, Le ATP, Bui HTT, Vu NP and Nguyen
            HH.
  TITLE     Single Nucleotide Polymorphisms of ADH1B, ADH1C and ALDH2 Genes in
            235 People Living in Thai Nguyen Province of Vietnam
  JOURNAL   Asian Pac J Cancer Prev 23 (12), 4243-4251 (2022)
   PUBMED   36580007
  REMARK    GeneRIF: Single Nucleotide Polymorphisms of ADH1B, ADH1C and ALDH2
            Genes in 235 People Living in Thai Nguyen Province of Vietnam.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1454)
  AUTHORS   Aliyeva G, Muslumov G, Bayramov B, Zeynalov N and Behbudov V.
  TITLE     INVESTIGATION OF ALCOHOL DEHYDROGENASE (ADH3) GENE POLYMOPHISM IN
            PATIENTS WITH CHRONIC ALCOHOLIC PANCRATITIS IN AZERBAIJAN POPULATION
  JOURNAL   Georgian Med News (332), 113-117 (2022)
   PUBMED   36701787
  REMARK    GeneRIF: INVESTIGATION OF ALCOHOL DEHYDROGENASE (ADH3) GENE
            POLYMOPHISM IN PATIENTS WITH CHRONIC ALCOHOLIC PANCRATITIS IN
            AZERBAIJAN POPULATION.
REFERENCE   5  (bases 1 to 1454)
  AUTHORS   Yokoyama S, Matsuo Y, Rajasekharan S and Yokoyama R.
  TITLE     Molecular structure of the human alcohol dehydrogenase 3 gene
  JOURNAL   Jpn J Genet 67 (2), 167-171 (1992)
   PUBMED   1524834
REFERENCE   6  (bases 1 to 1454)
  AUTHORS   Hurley TD, Bosron WF, Hamilton JA and Amzel LM.
  TITLE     Structure of human beta 1 beta 1 alcohol dehydrogenase: catalytic
            effects of non-active-site substitutions
  JOURNAL   Proc Natl Acad Sci U S A 88 (18), 8149-8153 (1991)
   PUBMED   1896463
REFERENCE   7  (bases 1 to 1454)
  AUTHORS   Stewart MJ, McBride MS, Winter LA and Duester G.
  TITLE     Promoters for the human alcohol dehydrogenase genes ADH1, ADH2, and
            ADH3: interaction of CCAAT/enhancer-binding protein with elements
            flanking the ADH2 TATA box
  JOURNAL   Gene 90 (2), 271-279 (1990)
   PUBMED   2169444
REFERENCE   8  (bases 1 to 1454)
  AUTHORS   Yasunami M, Kikuchi I, Sarapata D and Yoshida A.
  TITLE     The human class I alcohol dehydrogenase gene cluster: three genes
            are tandemly organized in an 80-kb-long segment of the genome
  JOURNAL   Genomics 7 (2), 152-158 (1990)
   PUBMED   2347582
REFERENCE   9  (bases 1 to 1454)
  AUTHORS   Ikuta,T., Szeto,S. and Yoshida,A.
  TITLE     Three human alcohol dehydrogenase subunits: cDNA structure and
            molecular and evolutionary divergence
  JOURNAL   Proc Natl Acad Sci U S A 83 (3), 634-638 (1986)
   PUBMED   2935875
REFERENCE   10  (bases 1 to 1454)
  AUTHORS   Lange,L.G., Sytkowski,A.J. and Vallee,B.L.
  TITLE     Human liver alcohol dehydrogenase: purification, composition, and
            catalytic features
  JOURNAL   Biochemistry 15 (21), 4687-4693 (1976)
   PUBMED   9982
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.164929.1,
            SRR5189664.65250.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142586,
            SAMEA2152474 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000515683.6/ ENSP00000426083.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA562068.1, BC074786.2 and
            CD014078.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000669.4.
            Summary: This gene encodes class I alcohol dehydrogenase, gamma
            subunit, which is a member of the alcohol dehydrogenase family.
            Members of this enzyme family metabolize a wide variety of
            substrates, including ethanol, retinol, other aliphatic alcohols,
            hydroxysteroids, and lipid peroxidation products. Class I alcohol
            dehydrogenase, consisting of several homo- and heterodimers of
            alpha, beta, and gamma subunits, exhibits high activity for ethanol
            oxidation to acetaldehyde, thus playing a major role in ethanol
            catabolism. Three genes encoding alpha, beta and gamma subunits are
            tandemly organized in a genomic segment as a gene cluster. An
            association between ADH1C polymorphism and alcohol dependence has
            not been established. [provided by RefSeq, Sep 2019].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the functional protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1454
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q23"
     gene            1..1454
                     /gene="ADH1C"
                     /gene_synonym="ADH3"
                     /note="alcohol dehydrogenase 1C (class I), gamma
                     polypeptide"
                     /db_xref="GeneID:126"
                     /db_xref="HGNC:HGNC:251"
                     /db_xref="MIM:103730"
     misc_feature    1
                     /gene="ADH1C"
                     /gene_synonym="ADH3"
                     /note="transcription start site mapped in PMID:2169444; the
                     5'-most transcription start site has not yet been
                     determined"
     CDS             72..1199
                     /gene="ADH1C"
                     /gene_synonym="ADH3"
                     /EC_number="1.1.1.1"
                     /note="ADH, gamma subunit; alcohol dehydrogenase 3 (class
                     I), gamma polypeptide; aldehyde reductase"
                     /codon_start=1
                     /product="alcohol dehydrogenase 1C"
                     /protein_id="NP_000660.1"
                     /db_xref="CCDS:CCDS54780.1"
                     /db_xref="GeneID:126"
                     /db_xref="HGNC:HGNC:251"
                     /db_xref="MIM:103730"
                     /translation="MSTAGKVIKCKAAVLWELKKPFSIEEVEVAPPKAHEVRIKMVAAG
                     ICRSDEHVVSGNLVTPLPVILGHEAAGIVESVGEGVTTVKPGDKVIPLFTPQCGKCRIC
                     KNPESNYCLKNDLGNPRGTLQDGTRRFTCSGKPIHHFVGVSTFSQYTVVDENAVAKIDA
                     ASPLEKVCLIGCGFSTGYGSAVKVAKVTPGSTCAVFGLGGVGLSVVMGCKAAGAARIIA
                     VDINKDKFAKAKELGATECINPQDYKKPIQEVLKEMTDGGVDFSFEVIGRLDTMMASLL
                     CCHEACGTSVIVGVPPDSQNLSINPMLLLTGRTWKGAIFGGFKSKESVPKLVADFMAKK
                     FSLDALITNILPFEKINEGFDLLRSGKSIRTVLTF"
     misc_feature    75..77
                     /gene="ADH1C"
                     /gene_synonym="ADH3"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:6391921; propagated from
                     UniProtKB/Swiss-Prot (P00326.2); acetylation site"
     misc_feature    138..140
                     /gene="ADH1C"
                     /gene_synonym="ADH3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P00325; propagated from
                     UniProtKB/Swiss-Prot (P00326.2); phosphorylation site"
     regulatory      1433..1438
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1C"
                     /gene_synonym="ADH3"
                     /note="hexamer: AATAAA"
     polyA_site      1454
                     /gene="ADH1C"
                     /gene_synonym="ADH3"
                     /note="major polyA site"
ORIGIN
        1 atgcactcaa gcagagaaga aatccacaag tactcaccag cctcctggtc tgcagagaag
       61 acagaatcaa tatgagcaca gcaggaaaag taatcaaatg caaagcagct gtgctatggg
      121 agttaaagaa acccttttcc attgaggagg tagaggttgc acctcctaag gctcatgaag
      181 ttcgcattaa gatggtggct gcaggaatct gtcgttcaga tgagcatgtg gttagtggca
      241 acctggtgac cccccttcct gtgattttag gccatgaggc agccggcatc gtggaaagtg
      301 ttggagaagg ggtgactaca gtcaaaccag gtgataaagt catcccgctc tttactcctc
      361 agtgtggaaa atgcagaatt tgtaaaaacc cagaaagcaa ctactgcttg aaaaatgatc
      421 taggcaatcc tcgggggacc ctgcaggatg gcaccaggag gttcacctgc agcgggaagc
      481 ccatccacca cttcgtcggc gtcagcacct tctcccagta cacagtggtg gatgagaatg
      541 cagtggccaa aattgatgca gcctcgcccc tggagaaagt ctgcctcatt ggctgtggat
      601 tttcgactgg ttatgggtct gcagtcaaag ttgccaaggt caccccaggg tctacctgtg
      661 ctgtgtttgg cctgggaggg gtcggcctat ctgttgttat gggctgtaaa gcagctggag
      721 cagccagaat cattgctgtg gacatcaaca aggacaaatt tgcaaaggct aaagagttgg
      781 gtgccactga atgcatcaac cctcaagact acaagaaacc cattcaggaa gtgctaaagg
      841 aaatgactga tggaggtgtg gatttttcgt ttgaagtcat cggtcggctt gacaccatga
      901 tggcttccct gttatgttgt catgaggcat gtggcacaag tgtcattgta ggggtacctc
      961 ctgattccca gaacctctca ataaacccta tgctgctact gactggacgc acgtggaaag
     1021 gagctatttt tggaggcttt aagagtaaag aatctgtccc caaacttgtg gctgacttta
     1081 tggctaagaa gttttcactg gatgcattaa taacaaatat tttacctttt gaaaaaataa
     1141 atgaaggatt tgacctgctt cgctctggaa agagtatccg taccgtcctg acgttttgaa
     1201 acaatacaga tgccttccct tgtagcagtt ttcagcctcc tctaccctac atgatctgga
     1261 gcaacagcta ggaaatatca ttaattctgc tcttcagaga tgttaaaaat aaattacacg
     1321 tgggagcttt ccaaagaaat ggaaattgat gggaaattat ttgtcaagca aatgtttaaa
     1381 atccaaatga gaactaaata aagtgttgaa catcaactgg ggaattgaag ccaataaacc
     1441 ttccttctta acca
//
LOCUS       NM_000670               2002 bp    mRNA    linear   PRI 07-MAY-2023
DEFINITION  Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide
            (ADH4), transcript variant 3, mRNA.
ACCESSION   NM_000670
VERSION     NM_000670.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2002)
  AUTHORS   Karunakara SH, Puttahanumantharayappa LD, Sannappa Gowda NG,
            Shiragannavar VD and Santhekadur PK.
  TITLE     Novel Insights into MEG3/miR664a-3p/ADH4 Axis and Its Possible Role
            in Hepatocellular Carcinoma from an in Silico Perspective
  JOURNAL   Genes (Basel) 13 (12), 2254 (2022)
   PUBMED   36553522
  REMARK    GeneRIF: Novel Insights into MEG3/miR664a-3p/ADH4 Axis and Its
            Possible Role in Hepatocellular Carcinoma from an in Silico
            Perspective. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2002)
  AUTHORS   Cui J, Peng W, Yi T, Gao P, Zhou M and Zhu T.
  TITLE     No significant association between SNPs in the CLOCK and ADH4 genes
            and susceptibility to cluster headaches: A systematic review and
            meta-analysis
  JOURNAL   Ann Hum Genet 86 (4), 159-170 (2022)
   PUBMED   35437765
  REMARK    GeneRIF: No significant association between SNPs in the CLOCK and
            ADH4 genes and susceptibility to cluster headaches: A systematic
            review and meta-analysis.
REFERENCE   3  (bases 1 to 2002)
  AUTHORS   Luo J, Hou Y, Ma W, Xie M, Jin Y, Xu L, Li C, Wang Y, Chen J, Chen
            W, Zheng Y and Yu D.
  TITLE     A novel mechanism underlying alcohol dehydrogenase expression:
            hsa-miR-148a-3p promotes ADH4 expression via an AGO1-dependent
            manner in control and ethanol-exposed hepatic cells
  JOURNAL   Biochem Pharmacol 189, 114458 (2021)
   PUBMED   33556337
  REMARK    GeneRIF: A novel mechanism underlying alcohol dehydrogenase
            expression: hsa-miR-148a-3p promotes ADH4 expression via an
            AGO1-dependent manner in control and ethanol-exposed hepatic cells.
REFERENCE   4  (bases 1 to 2002)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2002)
  AUTHORS   Papasavva M, Katsarou MS, Vikelis M, Mitropoulou E, Dermitzakis EV,
            Papakonstantinou S, Arvaniti C, Mitsikostas DD, Gozes I, Tsatsakis
            AM and Drakoulis N.
  TITLE     Analysis of HCRTR2, GNB3, and ADH4 Gene Polymorphisms in a
            Southeastern European Caucasian Cluster Headache Population
  JOURNAL   J Mol Neurosci 70 (3), 467-474 (2020)
   PUBMED   31768945
  REMARK    GeneRIF: Analysis of HCRTR2, GNB3, and ADH4 Gene Polymorphisms in a
            Southeastern European Caucasian Cluster Headache Population.
REFERENCE   6  (bases 1 to 2002)
  AUTHORS   Edman K and Maret W.
  TITLE     Alcohol dehydrogenase genes: restriction fragment length
            polymorphisms for ADH4 (pi-ADH) and ADH5 (chi-ADH) and construction
            of haplotypes among different ADH classes
  JOURNAL   Hum Genet 90 (4), 395-401 (1992)
   PUBMED   1362387
REFERENCE   7  (bases 1 to 2002)
  AUTHORS   von Bahr-Lindstrom H, Jornvall H and Hoog JO.
  TITLE     Cloning and characterization of the human ADH4 gene
  JOURNAL   Gene 103 (2), 269-274 (1991)
   PUBMED   1889753
REFERENCE   8  (bases 1 to 2002)
  AUTHORS   Hoog,J.O., von Bahr-Lindstrom,H., Heden,L.O., Holmquist,B.,
            Larsson,K., Hempel,J., Vallee,B.L. and Jornvall,H.
  TITLE     Structure of the class II enzyme of human liver alcohol
            dehydrogenase: combined cDNA and protein sequence determination of
            the pi subunit
  JOURNAL   Biochemistry 26 (7), 1926-1932 (1987)
   PUBMED   3036213
REFERENCE   9  (bases 1 to 2002)
  AUTHORS   Mardh,G., Dingley,A.L., Auld,D.S. and Vallee,B.L.
  TITLE     Human class II (pi) alcohol dehydrogenase has a redox-specific
            function in norepinephrine metabolism
  JOURNAL   Proc Natl Acad Sci U S A 83 (23), 8908-8912 (1986)
   PUBMED   3466164
REFERENCE   10  (bases 1 to 2002)
  AUTHORS   Lange,L.G., Sytkowski,A.J. and Vallee,B.L.
  TITLE     Human liver alcohol dehydrogenase: purification, composition, and
            catalytic features
  JOURNAL   Biochemistry 15 (21), 4687-4693 (1976)
   PUBMED   9982
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC022319.1, AK290835.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2162895
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000265512.12/ ENSP00000265512.7
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP002026.2 and AC019131.7.
            On Feb 27, 2020 this sequence version replaced NM_000670.4.
            Summary: This gene encodes class II alcohol dehydrogenase 4 pi
            subunit, which is a member of the alcohol dehydrogenase family.
            Members of this enzyme family metabolize a wide variety of
            substrates, including ethanol, retinol, other aliphatic alcohols,
            hydroxysteroids, and lipid peroxidation products. Class II alcohol
            dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits
            a high activity for oxidation of long-chain aliphatic alcohols and
            aromatic alcohols and is less sensitive to pyrazole. This gene is
            localized to chromosome 4 in the cluster of alcohol dehydrogenase
            genes. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (3) differs in the 5' UTR and
            lacks an exon in the 5' coding region, which results in use of an
            alternate start codon compared to variant 1. It encodes isoform 2,
            which is shorter than and has a novel N-terminus compared to
            isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2002
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q23"
     gene            1..2002
                     /gene="ADH4"
                     /gene_synonym="ADH-2; HEL-S-4"
                     /note="alcohol dehydrogenase 4 (class II), pi polypeptide"
                     /db_xref="GeneID:127"
                     /db_xref="HGNC:HGNC:252"
                     /db_xref="MIM:103740"
     misc_feature    15
                     /gene="ADH4"
                     /gene_synonym="ADH-2; HEL-S-4"
                     /note="transcription start site as determined in
                     PMID:1889753"
     misc_feature    16..18
                     /gene="ADH4"
                     /gene_synonym="ADH-2; HEL-S-4"
                     /note="upstream in-frame stop codon"
     CDS             76..1218
                     /gene="ADH4"
                     /gene_synonym="ADH-2; HEL-S-4"
                     /EC_number="1.1.1.105"
                     /note="isoform 2 is encoded by transcript variant 3;
                     aldehyde reductase; alcohol dehydrogenase class II pi
                     chain; epididymis secretory protein Li 4; all-trans-retinol
                     dehydrogenase [NAD(+)] ADH4; alcohol dehydrogenase 2"
                     /codon_start=1
                     /product="all-trans-retinol dehydrogenase [NAD(+)] ADH4
                     isoform 2"
                     /protein_id="NP_000661.2"
                     /db_xref="CCDS:CCDS34032.1"
                     /db_xref="GeneID:127"
                     /db_xref="HGNC:HGNC:252"
                     /db_xref="MIM:103740"
                     /translation="MGTKGKVIKCKAAIAWEAGKPLCIEEVEVAPPKAHEVRIQIIATS
                     LCHTDATVIDSKFEGLAFPVIVGHEAAGIVESIGPGVTNVKPGDKVIPLYAPLCRKCKF
                     CLSPLTNLCGKISNLKSPASDQQLMEDKTSRFTCKGKPVYHFFGTSTFSQYTVVSDINL
                     AKIDDDANLERVCLLGCGFSTGYGAAINNAKVTPGSTCAVFGLGGVGLSAVMGCKAAGA
                     SRIIGIDINSEKFVKAKALGATDCLNPRDLHKPIQEVIIELTKGGVDFALDCAGGSETM
                     KAALDCTTAGWGSCTFIGVAAGSKGLTIFPEELIIGRTINGTFFGGWKSVDSIPKLVTD
                     YKNKKFNLDALVTHTLPFDKISEAFDLMNQGKSVRTILIF"
     misc_feature    436..438
                     /gene="ADH4"
                     /gene_synonym="ADH-2; HEL-S-4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08319.5); phosphorylation site"
     misc_feature    907..909
                     /gene="ADH4"
                     /gene_synonym="ADH-2; HEL-S-4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P08319.5); phosphorylation site"
     regulatory      1838..1843
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH4"
                     /gene_synonym="ADH-2; HEL-S-4"
                     /note="hexamer: AATAAA"
     polyA_site      1865
                     /gene="ADH4"
                     /gene_synonym="ADH-2; HEL-S-4"
                     /note="major polyA site"
     regulatory      1974..1979
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH4"
                     /gene_synonym="ADH-2; HEL-S-4"
                     /note="hexamer: AATAAA"
     polyA_site      2002
                     /gene="ADH4"
                     /gene_synonym="ADH-2; HEL-S-4"
ORIGIN
        1 acggaactcc ctgggtagga gtttgaagct ttcttaactc agaaagaaac ttccaacaca
       61 gtttcccaaa gaaaaatggg caccaagggc aaagttatta aatgcaaagc agccatcgcc
      121 tgggaagcag gcaagcccct ttgcattgaa gaggttgaag tagctccccc caaggctcat
      181 gaagttcgca ttcagatcat tgctacctct ctgtgccata ctgatgccac tgttatcgat
      241 tctaaatttg agggcctagc tttcccagtg atcgttggcc atgaggctgc aggtattgtg
      301 gaaagtattg ggccaggagt gaccaacgtc aaaccaggtg acaaagtaat tccactttat
      361 gcacctctat gtagaaaatg caagttttgt ctgagtccac tcacaaattt gtgtgggaaa
      421 atcagtaatc tcaaaagtcc tgctagtgat caacaactaa tggaagacaa aaccagcagg
      481 tttacctgca aaggaaaacc agtttaccat ttctttggaa ccagtacatt ctctcagtac
      541 actgtggtgt cagatatcaa tcttgccaaa atagatgatg atgcaaattt agagagagtt
      601 tgtctgcttg gatgtgggtt ttcaactggc tatggggctg caatcaacaa tgccaaggtc
      661 acccctggtt cgacttgtgc tgtctttggc ctaggaggtg tgggtctttc tgctgtaatg
      721 ggttgtaaag cagcaggagc ttccagaatc ataggtattg acatcaacag tgagaagttt
      781 gtgaaggcta aagccctggg agccactgac tgcctcaatc ctagagactt acataaaccg
      841 atccaggaag ttatcattga attgaccaag ggaggtgtgg attttgccct tgactgtgca
      901 ggtggatctg aaaccatgaa agcagccctg gactgtacaa ccgcaggctg gggatcatgt
      961 actttcattg gagtagctgc tggtagcaaa ggattgacta tttttccaga ggagctaata
     1021 atcggccgta ctataaatgg aacattcttt ggtggttgga aaagtgtaga ttctatccca
     1081 aagctggtca ctgactataa gaataagaaa ttcaatctgg atgcactggt gacccatacc
     1141 ctgccttttg acaaaatcag tgaggcattt gacctaatga accaaggaaa aagcgtccga
     1201 acaatcctca tcttttgaag atgccaggag caattcagaa tactatctga ttgaatgtga
     1261 acctgcctgg ttaatttatt acctgatttg atgaaccaag gaaagccatg agtttaaaca
     1321 aatatttaca tttaatatgg gaacataaaa gagctttaaa tattatagac tttgtacctg
     1381 ttatatatat gaatattccc tatgttaaat aataataata actagtgttt atgaatagaa
     1441 tcatatcatc tttagaaatt gtttaaaatt agttctggga agttgaaagt ggggaatgaa
     1501 gagataataa ataaaactag attggccata tgtttataat ttttttagat tgggtaatga
     1561 atacatggag tttcattata cttttctctc cacttttgtc tatgttgaaa attttctggg
     1621 agctaaatga tgagaacaca tggacacatg atggggaaca acacacactg gggcctgttg
     1681 agggcaggga gtcggcagag agagagcatc aggaagaata gctaatggat gctgggcttc
     1741 atacctgggt gatgagatga tctgtgcagc aaagcaccat ggtacatgtt tacctatgta
     1801 acaaacctgc acatcctgca catgtaccct ggaacttaat aaaagttgga aatttttaaa
     1861 aagaatgaat aagacctggt atttgatagc acaacaggga gactatagtc aacagcaatt
     1921 taattgtata ttttaatatg actaaaagag tataatggat tgtttgtaac acaaataaat
     1981 gcttgaggag atggacaccc ca
//
LOCUS       NM_000671               2652 bp    mRNA    linear   PRI 12-FEB-2023
DEFINITION  Homo sapiens alcohol dehydrogenase 5 (class III), chi polypeptide
            (ADH5), mRNA.
ACCESSION   NM_000671
VERSION     NM_000671.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2652)
  AUTHORS   Rizza S, Di Leo L, Pecorari C, Giglio P, Faienza F, Montagna C,
            Maiani E, Puglia M, Bosisio FM, Petersen TS, Lin L, Rissler V,
            Viloria JS, Luo Y, Papaleo E, De Zio D, Blagoev B and Filomeni G.
  TITLE     GSNOR deficiency promotes tumor growth via FAK1 S-nitrosylation
  JOURNAL   Cell Rep 42 (1), 111997 (2023)
   PUBMED   36656716
  REMARK    GeneRIF: GSNOR deficiency promotes tumor growth via FAK1
            S-nitrosylation.
REFERENCE   2  (bases 1 to 2652)
  AUTHORS   Mu A, Hira A, Niwa A, Osawa M, Yoshida K, Mori M, Okamoto Y, Inoue
            K, Kondo K, Kanemaki MT, Matsuda T, Ito E, Kojima S, Nakahata T,
            Ogawa S, Tanaka K, Matsuo K, Saito MK and Takata M.
  TITLE     Analysis of disease model iPSCs derived from patients with a novel
            Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency
  JOURNAL   Blood 137 (15), 2021-2032 (2021)
   PUBMED   33512438
  REMARK    GeneRIF: Analysis of disease model iPSCs derived from patients with
            a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.
REFERENCE   3  (bases 1 to 2652)
  AUTHORS   Mu A, Hira A, Matsuo K and Takata M.
  TITLE     [Aldehyde degradation deficiency (ADD) syndrome: discovery of a
            novel fanconi anemia-like inherited BMF syndrome due to combined
            ADH5/ALDH2 deficiency]
  JOURNAL   Rinsho Ketsueki 62 (6), 547-553 (2021)
   PUBMED   34219079
  REMARK    GeneRIF: [Aldehyde degradation deficiency (ADD) syndrome: discovery
            of a novel fanconi anemia-like inherited BMF syndrome due to
            combined ADH5/ALDH2 deficiency].
REFERENCE   4  (bases 1 to 2652)
  AUTHORS   Dingler FA, Wang M, Mu A, Millington CL, Oberbeck N, Watcham S,
            Pontel LB, Kamimae-Lanning AN, Langevin F, Nadler C, Cordell RL,
            Monks PS, Yu R, Wilson NK, Hira A, Yoshida K, Mori M, Okamoto Y,
            Okuno Y, Muramatsu H, Shiraishi Y, Kobayashi M, Moriguchi T, Osumi
            T, Kato M, Miyano S, Ito E, Kojima S, Yabe H, Yabe M, Matsuo K,
            Ogawa S, Gottgens B, Hodskinson MRG, Takata M and Patel KJ.
  TITLE     Two Aldehyde Clearance Systems Are Essential to Prevent Lethal
            Formaldehyde Accumulation in Mice and Humans
  JOURNAL   Mol Cell 80 (6), 996-1012 (2020)
   PUBMED   33147438
  REMARK    GeneRIF: Two Aldehyde Clearance Systems Are Essential to Prevent
            Lethal Formaldehyde Accumulation in Mice and Humans.
REFERENCE   5  (bases 1 to 2652)
  AUTHORS   Kwon HS, Lee DK, Lee JJ, Edenberg HJ, Ahn YH and Hur MW.
  TITLE     Posttranscriptional regulation of human ADH5/FDH and Myf6 gene
            expression by upstream AUG codons
  JOURNAL   Arch Biochem Biophys 386 (2), 163-171 (2001)
   PUBMED   11368338
REFERENCE   6  (bases 1 to 2652)
  AUTHORS   Iborra FJ, Renau-Piqueras J, Portoles M, Boleda MD, Guerri C and
            Pares X.
  TITLE     Immunocytochemical and biochemical demonstration of formaldhyde
            dehydrogenase (class III alcohol dehydrogenase) in the nucleus
  JOURNAL   J Histochem Cytochem 40 (12), 1865-1878 (1992)
   PUBMED   1453005
REFERENCE   7  (bases 1 to 2652)
  AUTHORS   Hur MW and Edenberg HJ.
  TITLE     Cloning and characterization of the ADH5 gene encoding human alcohol
            dehydrogenase 5, formaldehyde dehydrogenase
  JOURNAL   Gene 121 (2), 305-311 (1992)
   PUBMED   1446828
REFERENCE   8  (bases 1 to 2652)
  AUTHORS   Bowden GA, Baneyx F and Georgiou G.
  TITLE     Abnormal fractionation of beta-lactamase in Escherichia coli:
            evidence for an interaction with the inner membrane in the absence
            of a leader peptide
  JOURNAL   J Bacteriol 174 (10), 3407-3410 (1992)
   PUBMED   1577708
REFERENCE   9  (bases 1 to 2652)
  AUTHORS   Sharma CP, Fox EA, Holmquist B, Jornvall H and Vallee BL.
  TITLE     cDNA sequence of human class III alcohol dehydrogenase
  JOURNAL   Biochem Biophys Res Commun 164 (2), 631-637 (1989)
   PUBMED   2818582
REFERENCE   10  (bases 1 to 2652)
  AUTHORS   Giri PR, Krug JF, Kozak C, Moretti T, O'Brien SJ, Seuanez HN and
            Goldman D.
  TITLE     Cloning and comparative mapping of a human class III (chi) alcohol
            dehydrogenase cDNA
  JOURNAL   Biochem Biophys Res Commun 164 (1), 453-460 (1989)
   PUBMED   2679557
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M30471.1, SRR3476690.213168.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000296412.14/ ENSP00000296412.8
            RefSeq Select criteria :: based on single protein-coding transcript
            regulatory uORF             :: PMID: 11368338
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA737788.1, M30471.1 and
            AC019131.7.
            On Dec 21, 2013 this sequence version replaced NM_000671.3.
            Summary: This gene encodes a member of the alcohol dehydrogenase
            family. Members of this family metabolize a wide variety of
            substrates, including ethanol, retinol, other aliphatic alcohols,
            hydroxysteroids, and lipid peroxidation products. The encoded
            protein forms a homodimer. It has virtually no activity for ethanol
            oxidation, but exhibits high activity for oxidation of long-chain
            primary alcohols and for oxidation of S-hydroxymethyl-glutathione,
            a spontaneous adduct between formaldehyde and glutathione. This
            enzyme is an important component of cellular metabolism for the
            elimination of formaldehyde, a potent irritant and sensitizing
            agent that causes lacrymation, rhinitis, pharyngitis, and contact
            dermatitis. The human genome contains several non-transcribed
            pseudogenes related to this gene. [provided by RefSeq, Oct 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2652
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q23"
     gene            1..2652
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /note="alcohol dehydrogenase 5 (class III), chi
                     polypeptide"
                     /db_xref="GeneID:128"
                     /db_xref="HGNC:HGNC:253"
                     /db_xref="MIM:103710"
     regulatory      24..86
                     /regulatory_class="uORF"
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:11368338]"
                     /note="this uORF is predicted to encode a 20 aa peptide
                     (PMID:11368338)"
     regulatory      54..86
                     /regulatory_class="uORF"
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:11368338]"
                     /note="this uORF is predicted to encode a 10 aa peptide
                     (PMID:11368338)"
     CDS             89..1213
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /EC_number="1.1.1.1"
                     /EC_number="1.1.1.284"
                     /note="formaldehyde dehydrogenase; glutathione-dependent
                     formaldehyde dehydrogenase; alcohol dehydrogenase (class
                     III), chi polypeptide; alcohol dehydrogenase class-III;
                     alcohol dehydrogenase class chi chain;
                     S-(hydroxymethyl)glutathione dehydrogenase; epididymis
                     secretory sperm binding protein Li 60p;
                     S-nitrosoglutathione reductase"
                     /codon_start=1
                     /product="alcohol dehydrogenase class-3"
                     /protein_id="NP_000662.3"
                     /db_xref="CCDS:CCDS47111.1"
                     /db_xref="GeneID:128"
                     /db_xref="HGNC:HGNC:253"
                     /db_xref="MIM:103710"
                     /translation="MANEVIKCKAAVAWEAGKPLSIEEIEVAPPKAHEVRIKIIATAVC
                     HTDAYTLSGADPEGCFPVILGHEGAGIVESVGEGVTKLKAGDTVIPLYIPQCGECKFCL
                     NPKTNLCQKIRVTQGKGLMPDGTSRFTCKGKTILHYMGTSTFSEYTVVADISVAKIDPL
                     APLDKVCLLGCGISTGYGAAVNTAKLEPGSVCAVFGLGGVGLAVIMGCKVAGASRIIGV
                     DINKDKFARAKEFGATECINPQDFSKPIQEVLIEMTDGGVDYSFECIGNVKVMRAALEA
                     CHKGWGVSVVVGVAASGEEIATRPFQLVTGRTWKGTAFGGWKSVESVPKLVSEYMSKKI
                     KVDEFVTHNLSFDEINKAFELMHSGKSIRTVVKI"
     misc_feature    92..94
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P11766.4); acetylation site"
     misc_feature    431..433
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /note="Important for FDH activity and activation by fatty
                     acids. /evidence=ECO:0000269|PubMed:8460164,
                     ECO:0000269|PubMed:8494891; propagated from
                     UniProtKB/Swiss-Prot (P11766.4); other site"
     misc_feature    827..829
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P11766.4); phosphorylation site"
     misc_feature    1058..1060
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P11766.4); phosphorylation site"
     misc_feature    1139..1141
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P11766.4); phosphorylation site"
     regulatory      1454..1459
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /note="hexamer: AATAAA"
     polyA_site      1484
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
     regulatory      2626..2631
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /note="hexamer: AATAAA"
     polyA_site      2652
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /note="major polyA site"
ORIGIN
        1 ctcgctaggc gctcgccacg cccatgcctc cgtcgctgcg cggcccaccc cggatgtcag
       61 ccccccgcgc cgaccagaat ccgtgaacat ggcgaacgag gttatcaagt gcaaggctgc
      121 agttgcttgg gaggctggaa agcctctctc catagaggag atagaggtgg cacccccaaa
      181 ggctcatgaa gttcgaatca agatcattgc cactgcggtt tgccacaccg atgcctatac
      241 cctgagtgga gctgatcctg agggttgttt tccagtgatc ttgggacatg aaggtgctgg
      301 aattgtggaa agtgttggtg agggagttac taagctgaag gcgggtgaca ctgtcatccc
      361 actttacatc ccacagtgtg gagaatgcaa attttgtcta aatcctaaaa ctaacctttg
      421 ccagaagata agagtcactc aagggaaagg attaatgcca gatggtacca gcagatttac
      481 ttgcaaagga aagacaattt tgcattacat gggaaccagc acattttctg aatacacagt
      541 tgtggctgat atctctgttg ctaaaataga tcctttagca cctttggata aagtctgcct
      601 tctaggttgt ggcatttcaa ccggttatgg tgctgctgtg aacactgcca agttggagcc
      661 tggctctgtt tgtgccgtct ttggtctggg aggagtcgga ttggcagtta tcatgggctg
      721 taaagtggct ggtgcttccc ggatcattgg tgtggacatc aataaagata aatttgcaag
      781 ggccaaagag tttggagcca ctgaatgtat taaccctcag gattttagta aacccatcca
      841 ggaagtgctc attgagatga ccgatggagg agtggactat tcctttgaat gtattggtaa
      901 tgtgaaggtc atgagagcag cacttgaggc atgtcacaag ggctggggcg tcagcgtcgt
      961 ggttggagta gctgcttcag gtgaagaaat tgccactcgt ccattccagc tggtaacagg
     1021 tcgcacatgg aaaggcactg cctttggagg atggaagagt gtagaaagtg tcccaaagtt
     1081 ggtgtctgaa tatatgtcca aaaagataaa agttgatgaa tttgtgactc acaatctgtc
     1141 ttttgatgaa atcaacaaag cctttgaact gatgcattct ggaaagagca ttcgaactgt
     1201 tgtaaagatt taattcaaaa gagaaaaata atgtccatcc tgtcgtgatg tgataggagc
     1261 agcttaacag gcagggagaa gcgcctccaa cctcacagcc tcgtagagct tcacagctac
     1321 tccagaaaat agggttatgt gtgtcattca tgaatctcta taatcaagga caaggataat
     1381 tcagtcatga acctgttttc tggatgctcc tccacataaa taattgctag tttattaagg
     1441 aatattttaa cataataaaa gtaatttcta catttgtgtg gaaattgtct tgttttatgc
     1501 tgtcatcatt gtcacggttt gtctgcccat tatcttcatt ctgcaaggga aagggaaagg
     1561 aagcagggca gtggtgggtg tctgaaacct cagaaacata acgttgaact tttaagggtc
     1621 tcagtccccg ttgattaaag aacagatcct agccatcagt gacaaagtta atcaggaccc
     1681 aagtctgctt ctgtgatatt atcttgaagg gaggtactgt gccttgttca tacctgtacc
     1741 ccaaattcct aggatggcat ctgcccttca gggggcacta aaatgtatta ttgaaacagc
     1801 attctgggct taaataggtg tatgtatgtg ttggttgtga ctgtactatt tctagtatag
     1861 tgaactacat actgaatatc caagttctca gcacctactt ttgtcaaatc ttaacatttt
     1921 gccacttcga gatcacattg ccattcctcc cctccagagg taacaattat ccacaatttg
     1981 atgtttatca ttcctgtgtt gttgtacttt cactgtgtat aacctaaacc atctactctt
     2041 tagtactgtt ttatatattt ttaagcctca tacttgctca ttctacagct tttttcactc
     2101 attattgtat aattatatct gaagctctcg ttcattaatt ttagtcctgt gtagcagaat
     2161 tcaattacgg gaactaccat aatttatctg ttctccagtt gaaggcatga agttgttgcc
     2221 agtttctgta ttataacact gtagtggaac attcttctgc attgggctca ctgcgtgtta
     2281 cctaagacgt atcacagaat aaacacattt agccttatag acattgccaa attgctcttc
     2341 aaagtaaatg tgagtttttg tgaattacat gagtatggaa tggtgtttta ttatgacttt
     2401 agtttgcatt ttcctcaatt ctcgttaaat ccttcattct aatggacatt ttattgtgaa
     2461 gaacctgttc atatcctgtg ctcaactttg tattgaatta tttttctctg aataattttt
     2521 aggagttctt ttattctaga catcaatcat ttgtcagttt tatatgttgc aaatatcttc
     2581 tagtctatct tgtgactttt ctttttactt tatggtattt tgttgaataa agttttaatg
     2641 tagtcacata aa
//
LOCUS       NM_000673               2119 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma
            polypeptide (ADH7), transcript variant 2, mRNA.
ACCESSION   NM_000673
VERSION     NM_000673.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2119)
  AUTHORS   Zeng K, Li Y, Gao M, Liu YP, Xu FL, Xia X, Yao J and Wang BJ.
  TITLE     Association of ADH7 Gene Polymorphism with Schizophrenia in the Han
            Population of Northern China: a Case-Control Study
  JOURNAL   J Mol Neurosci 70 (11), 1851-1857 (2020)
   PUBMED   32388801
  REMARK    GeneRIF: Association of ADH7 Gene Polymorphism with Schizophrenia in
            the Han Population of Northern China: a Case-Control Study.
REFERENCE   2  (bases 1 to 2119)
  AUTHORS   Latta L, Nordstrom K, Stachon T, Langenbucher A, Fries FN, Szentmary
            N, Seitz B and Kasmann-Kellner B.
  TITLE     Expression of retinoic acid signaling components ADH7 and ALDH1A1 is
            reduced in aniridia limbal epithelial cells and a siRNA primary cell
            based aniridia model
  JOURNAL   Exp Eye Res 179, 8-17 (2019)
   PUBMED   30292490
  REMARK    GeneRIF: These results provide evidence that PAX6 might drive
            corneal epithelial differentiation by direct or indirect control of
            retinoic acid signaling processes through ADH7 and ALDH1A1.
REFERENCE   3  (bases 1 to 2119)
  AUTHORS   Pastorino R, Iuliano L, Vecchioni A, Arzani D, Milic M, Annunziata
            F, Zerbinati C, Capoluongo E, Bonassi S, McKay JD and Boccia S.
  TITLE     Effect of alcohol dehydrogenase-1B and -7 polymorphisms on blood
            ethanol and acetaldehyde concentrations in healthy subjects with a
            history of moderate alcohol consumption
  JOURNAL   Drug Test Anal 10 (3), 488-495 (2018)
   PUBMED   28731573
  REMARK    GeneRIF: The results of the study do not support our hypothesis that
            ADH1B and ADH7 genotypes affect blood ethanol, and acetaldehyde
            concentration.
REFERENCE   4  (bases 1 to 2119)
  AUTHORS   Norden-Krichmar,T.M., Gizer,I.R., Wilhelmsen,K.C., Schork,N.J. and
            Ehlers,C.L.
  TITLE     Protective variant associated with alcohol dependence in a Mexican
            American cohort
  JOURNAL   BMC Med Genet 15, 136 (2014)
   PUBMED   25527893
  REMARK    GeneRIF: These results suggest that variants near ADH7 may play a
            role in protection from alcohol dependence in this Mexican American
            cohort. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2119)
  AUTHORS   Wang J, Wei J, Xu X, Pan W, Ge Y, Zhou C, Liu C, Gao J, Yang M and
            Mao W.
  TITLE     Replication study of ESCC susceptibility genetic polymorphisms
            locating in the ADH1B-ADH1C-ADH7 cluster identified by GWAS
  JOURNAL   PLoS One 9 (4), e94096 (2014)
   PUBMED   24722735
  REMARK    GeneRIF: ADH1B-ADH1C-ADH7 cluster SNPs confer susceptibility to
            esophageal squamous cell carcinoma Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2119)
  AUTHORS   Zgombic-Knight M, Foglio MH and Duester G.
  TITLE     Genomic structure and expression of the ADH7 gene encoding human
            class IV alcohol dehydrogenase, the form most efficient for retinol
            metabolism in vitro
  JOURNAL   J Biol Chem 270 (9), 4305-4311 (1995)
   PUBMED   7876191
REFERENCE   7  (bases 1 to 2119)
  AUTHORS   Kedishvili NY, Bosron WF, Stone CL, Hurley TD, Peggs CF, Thomasson
            HR, Popov KM, Carr LG, Edenberg HJ and Li TK.
  TITLE     Expression and kinetic characterization of recombinant human stomach
            alcohol dehydrogenase. Active-site amino acid sequence explains
            substrate specificity compared with liver isozymes
  JOURNAL   J Biol Chem 270 (8), 3625-3630 (1995)
   PUBMED   7876099
REFERENCE   8  (bases 1 to 2119)
  AUTHORS   Cheung B, Anderson JK, Holmes RS and Beacham IR.
  TITLE     Human stomach class IV alcohol dehydrogenase: molecular genetic
            analysis
  JOURNAL   Alcohol Clin Exp Res 19 (1), 185-186 (1995)
   PUBMED   7771649
REFERENCE   9  (bases 1 to 2119)
  AUTHORS   Pares X, Cederlund E, Moreno A, Saubi N, Hoog JO and Jornvall H.
  TITLE     Class IV alcohol dehydrogenase (the gastric enzyme). Structural
            analysis of human sigma sigma-ADH reveals class IV to be variable
            and confirms the presence of a fifth mammalian alcohol dehydrogenase
            class
  JOURNAL   FEBS Lett 303 (1), 69-72 (1992)
   PUBMED   1592118
REFERENCE   10  (bases 1 to 2119)
  AUTHORS   Lange,L.G., Sytkowski,A.J. and Vallee,B.L.
  TITLE     Human liver alcohol dehydrogenase: purification, composition, and
            catalytic features
  JOURNAL   Biochemistry 15 (21), 4687-4693 (1976)
   PUBMED   9982
COMMENT     ##Evidence-Data-START##
            Transcript exon combination      :: X76342.1, U09623.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142586,
            SAMEA2147975 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000437033.7/ ENSP00000414254.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001960.2.
            On Oct 23, 2020 this sequence version replaced NM_000673.6.
            Summary: This gene encodes class IV alcohol dehydrogenase 7 mu or
            sigma subunit, which is a member of the alcohol dehydrogenase
            family. Members of this family metabolize a wide variety of
            substrates, including ethanol, retinol, other aliphatic alcohols,
            hydroxysteroids, and lipid peroxidation products. The enzyme
            encoded by this gene is inefficient in ethanol oxidation, but is
            the most active as a retinol dehydrogenase; thus it may participate
            in the synthesis of retinoic acid, a hormone important for cellular
            differentiation. The expression of this gene is much more abundant
            in stomach than liver, thus differing from the other known gene
            family members. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Oct 2009].
            Transcript Variant: This variant (2) differs in the 5' UTR and 5'
            coding region, compared to variant 1, resulting in an isoform (2)
            that has a distinct N-terminus and is shorter than isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2119
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q23"
     gene            1..2119
                     /gene="ADH7"
                     /gene_synonym="ADH4"
                     /note="alcohol dehydrogenase 7 (class IV), mu or sigma
                     polypeptide"
                     /db_xref="GeneID:131"
                     /db_xref="HGNC:HGNC:256"
                     /db_xref="MIM:600086"
     misc_feature    74..76
                     /gene="ADH7"
                     /gene_synonym="ADH4"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MFAEIQIQDKDR"
     CDS             110..1234
                     /gene="ADH7"
                     /gene_synonym="ADH4"
                     /EC_number="1.1.1.1"
                     /EC_number="1.1.1.105"
                     /EC_number="1.1.1.66"
                     /note="isoform 2 is encoded by transcript variant 2;
                     gastric alcohol dehydrogenase; class IV sigma-1 alcohol
                     dehydrogenase; alcohol dehydrogenase VII; alcohol
                     dehydrogenase class 4 mu/sigma chain; retinol
                     dehydrogenase; class IV sigmasigma alcohol dehydrogenase;
                     alcohol dehydrogenase-7; alcohol dehydrogenase class IV
                     mu/sigma chain; omega-hydroxydecanoate dehydrogenase ADH7;
                     all-trans-retinol dehydrogenase [NAD(+)] ADH7"
                     /codon_start=1
                     /product="all-trans-retinol dehydrogenase [NAD(+)] ADH7
                     isoform 2"
                     /protein_id="NP_000664.3"
                     /db_xref="CCDS:CCDS34034.2"
                     /db_xref="GeneID:131"
                     /db_xref="HGNC:HGNC:256"
                     /db_xref="MIM:600086"
                     /translation="MGTAGKVIKCKAAVLWEQKQPFSIEEIEVAPPKTKEVRIKILATG
                     ICRTDDHVIKGTMVSKFPVIVGHEATGIVESIGEGVTTVKPGDKVIPLFLPQCRECNAC
                     RNPDGNLCIRSDITGRGVLADGTTRFTCKGKPVHHFMNTSTFTEYTVVDESSVAKIDDA
                     APPEKVCLIGCGFSTGYGAAVKTGKVKPGSTCVVFGLGGVGLSVIMGCKSAGASRIIGI
                     DLNKDKFEKAMAVGATECISPKDSTKPISEVLSEMTGNNVGYTFEVIGHLETMIDALAS
                     CHMNYGTSVVVGVPPSAKMLTYDPMLLFTGRTWKGCVFGGLKSRDDVPKLVTEFLAKKF
                     DLDQLITHVLPFKKISEGFELLNSGQSIRTVLTF"
     regulatory      2102..2107
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH7"
                     /gene_synonym="ADH4"
                     /note="hexamer: ATTAAA"
     polyA_site      2119
                     /gene="ADH7"
                     /gene_synonym="ADH4"
                     /note="major polyA site"
ORIGIN
        1 agactatcta tgtgaaggca caagctgctg ttatatacaa cagagtgaac tgagcatcag
       61 tcagaaaaag tctatgtttg cagaaataca gatccaagac aaagacagga tgggcactgc
      121 tggaaaagtt attaaatgca aagcagctgt gctttgggag cagaagcaac ccttctccat
      181 tgaggaaata gaagttgccc caccaaagac taaagaagtt cgcattaaga ttttggccac
      241 aggaatctgt cgcacagatg accatgtgat aaaaggaaca atggtgtcca agtttccagt
      301 gattgtggga catgaggcaa ctgggattgt agagagcatt ggagaaggag tgactacagt
      361 gaaaccaggt gacaaagtca tccctctctt tctgccacaa tgtagagaat gcaatgcttg
      421 tcgcaaccca gatggcaacc tttgcattag gagcgatatt actggtcgtg gagtactggc
      481 tgatggcacc accagattta catgcaaggg caaaccagtc caccacttca tgaacaccag
      541 tacatttacc gagtacacag tggtggatga atcttctgtt gctaagattg atgatgcagc
      601 tcctcctgag aaagtctgtt taattggctg tgggttttcc actggatatg gcgctgctgt
      661 taaaactggc aaggtcaaac ctggttccac ttgcgtcgtc tttggcctgg gaggagttgg
      721 cctgtcagtc atcatgggct gtaagtcagc tggtgcatct aggatcattg ggattgacct
      781 caacaaagac aaatttgaga aggccatggc tgtaggtgcc actgagtgta tcagtcccaa
      841 ggactctacc aaacccatca gtgaggtgct gtcagaaatg acaggcaaca acgtgggata
      901 cacctttgaa gttattgggc atcttgaaac catgattgat gccctggcat cctgccacat
      961 gaactatggg accagcgtgg ttgtaggagt tcctccatca gccaagatgc tcacctatga
     1021 cccgatgttg ctcttcactg gacgcacatg gaagggatgt gtctttggag gtttgaaaag
     1081 cagagatgat gtcccaaaac tagtgactga gttcctggca aagaaatttg acctggacca
     1141 gttgataact catgttttac catttaaaaa aatcagtgaa ggatttgagc tgctcaattc
     1201 aggacaaagc attcgaacgg tcctgacgtt ttgagatcca aagtggcagg aggtctgtgt
     1261 tgtcatggtg aactggagtt tctcttgtga gagttccctc atctgaaatc atgtatctgt
     1321 ctcacaaata caagcataag tagaagattt gttgaagaca tagaaccctt ataaagaatt
     1381 attaaccttt ataaacattt aaagtcttgt gagcacctgg gaattagtat aataacaatg
     1441 ttaatatttt tgatttacat tttgtaaggc tataattgta tcttttaaga aaacatacac
     1501 ttggatttct atgttgaaat ggagattttt aagagtttta accagctgct gcagatatat
     1561 aactcaaaac agatatagcg tataaagata tagtaaatgc atctcctaga gtaatattca
     1621 cttaacacat tgaaactatt attttttaga tttgaatata aatgtatttt ttaaacactt
     1681 gttatgagtt aagttggatt acattttgaa atcagttcat tccatgatgc atattactgg
     1741 attagattaa gaaagacaga aaagattaag ggacgggcac atttttcaac gattaagaat
     1801 catcattaca taacttggtg aaactgaaaa agtatatcat atgggtacac aaggctattt
     1861 gccagcatat attaatattt tagaaaatat tccttttgta atactgaata taaacataga
     1921 gctagaatca tattatcata cttatcataa tgttcaattt gatacagtag aattgcaagt
     1981 ccctaagtcc ctattcactg tgcttagtag tgactccatt taataaaaag tgtttttagt
     2041 ttttaacaac tacactgatg tatctatata tatctataac atgttaaaaa ttcttaagaa
     2101 aattaaaaat tatataaaa
//
LOCUS       NM_000674               2901 bp    mRNA    linear   PRI 26-FEB-2023
DEFINITION  Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 1,
            mRNA.
ACCESSION   NM_000674
VERSION     NM_000674.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2901)
  AUTHORS   Tzortzini E, Corey RA and Kolocouris A.
  TITLE     Comparative Study of Receptor-, Receptor State-, and
            Membrane-Dependent Cholesterol Binding Sites in A2A and A1 Adenosine
            Receptors Using Coarse-Grained Molecular Dynamics Simulations
  JOURNAL   J Chem Inf Model 63 (3), 928-949 (2023)
   PUBMED   36637988
  REMARK    GeneRIF: Comparative Study of Receptor-, Receptor State-, and
            Membrane-Dependent Cholesterol Binding Sites in A2A and A1 Adenosine
            Receptors Using Coarse-Grained Molecular Dynamics Simulations.
REFERENCE   2  (bases 1 to 2901)
  AUTHORS   Sarasola LI, Del Torrent CL, Perez-Arevalo A, Argerich J,
            Casajuana-Martin N, Chevigne A, Fernandez-Duenas V, Ferre S, Pardo L
            and Ciruela F.
  TITLE     The ADORA1 mutation linked to early-onset Parkinson's disease alters
            adenosine A1-A2A receptor heteromer formation and function
  JOURNAL   Biomed Pharmacother 156, 113896 (2022)
   PUBMED   36279718
  REMARK    GeneRIF: The ADORA1 mutation linked to early-onset Parkinson's
            disease alters adenosine A1-A2A receptor heteromer formation and
            function.
REFERENCE   3  (bases 1 to 2901)
  AUTHORS   Deluigi M, Morstein L, Schuster M, Klenk C, Merklinger L, Cridge RR,
            de Zhang LA, Klipp A, Vacca S, Vaid TM, Mittl PRE, Egloff P, Eberle
            SA, Zerbe O, Chalmers DK, Scott DJ and Pluckthun A.
  TITLE     Crystal structure of the alpha1B-adrenergic receptor reveals
            molecular determinants of selective ligand recognition
  JOURNAL   Nat Commun 13 (1), 382 (2022)
   PUBMED   35046410
  REMARK    GeneRIF: Crystal structure of the alpha1B-adrenergic receptor
            reveals molecular determinants of selective ligand recognition.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2901)
  AUTHORS   Pang L, Ng KT, Liu J, Yeung WO, Zhu J, Chiu TS, Liu H, Chen Z, Lo CM
            and Man K.
  TITLE     Plasmacytoid dendritic cells recruited by HIF-1alpha/eADO/ADORA1
            signaling induce immunosuppression in hepatocellular carcinoma
  JOURNAL   Cancer Lett 522, 80-92 (2021)
   PUBMED   34536555
  REMARK    GeneRIF: Plasmacytoid dendritic cells recruited by
            HIF-1alpha/eADO/ADORA1 signaling induce immunosuppression in
            hepatocellular carcinoma.
REFERENCE   5  (bases 1 to 2901)
  AUTHORS   Tian D, Li J, Zou L, Lin M, Shi X, Hu Y, Lang J, Xu L, Ye W, Li X
            and Chen L.
  TITLE     Adenosine A1 Receptor Deficiency Aggravates Extracellular Matrix
            Accumulation in Diabetic Nephropathy through Disturbance of
            Peritubular Microenvironment
  JOURNAL   J Diabetes Res 2021, 5584871 (2021)
   PUBMED   34671682
  REMARK    GeneRIF: Adenosine A1 Receptor Deficiency Aggravates Extracellular
            Matrix Accumulation in Diabetic Nephropathy through Disturbance of
            Peritubular Microenvironment. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2901)
  AUTHORS   Townsend-Nicholson A and Shine J.
  TITLE     Molecular cloning and characterisation of a human brain A1 adenosine
            receptor cDNA
  JOURNAL   Brain Res Mol Brain Res 16 (3-4), 365-370 (1992)
   PUBMED   1339301
REFERENCE   7  (bases 1 to 2901)
  AUTHORS   Libert F, Van Sande J, Lefort A, Czernilofsky A, Dumont JE, Vassart
            G, Ensinger HA and Mendla KD.
  TITLE     Cloning and functional characterization of a human A1 adenosine
            receptor
  JOURNAL   Biochem Biophys Res Commun 187 (2), 919-926 (1992)
   PUBMED   1530647
REFERENCE   8  (bases 1 to 2901)
  AUTHORS   Stiles GL.
  TITLE     Adenosine receptors
  JOURNAL   J Biol Chem 267 (10), 6451-6454 (1992)
   PUBMED   1551861
  REMARK    Review article
REFERENCE   9  (bases 1 to 2901)
  AUTHORS   Libert F, Passage E, Parmentier M, Simons MJ, Vassart G and Mattei
            MG.
  TITLE     Chromosomal mapping of A1 and A2 adenosine receptors, VIP receptor,
            and a new subtype of serotonin receptor
  JOURNAL   Genomics 11 (1), 225-227 (1991)
   PUBMED   1662665
  REMARK    Erratum:[Genomics 1994 Sep 1;23(1):305]
REFERENCE   10  (bases 1 to 2901)
  AUTHORS   Libert F, Parmentier M, Lefort A, Dinsart C, Van Sande J, Maenhaut
            C, Simons MJ, Dumont JE and Vassart G.
  TITLE     Selective amplification and cloning of four new members of the G
            protein-coupled receptor family
  JOURNAL   Science 244 (4904), 569-572 (1989)
   PUBMED   2541503
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1943214.1, AK289928.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000337894.9/ ENSP00000338435.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB171678.1, L22214.1,
            AC105940.2 and BU740906.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 24, 2018 this sequence version replaced NM_000674.2.
            Summary: The protein encoded by this gene is an adenosine receptor
            that belongs to the G-protein coupled receptor 1 family. There are
            3 types of adenosine receptors, each with a specific pattern of
            ligand binding and tissue distribution, and together they regulate
            a diverse set of physiologic functions. The type A1 receptors
            inhibit adenylyl cyclase, and play a role in the fertilization
            process. Animal studies also suggest a role for A1 receptors in
            kidney function and ethanol intoxication. Transcript variants with
            alternative splicing in the 5' UTR have been found for this gene.
            [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2901
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..2901
                     /gene="ADORA1"
                     /gene_synonym="RDC7"
                     /note="adenosine A1 receptor"
                     /db_xref="GeneID:134"
                     /db_xref="HGNC:HGNC:262"
                     /db_xref="MIM:102775"
     misc_feature    392..394
                     /gene="ADORA1"
                     /gene_synonym="RDC7"
                     /note="upstream in-frame stop codon"
     CDS             416..1396
                     /gene="ADORA1"
                     /gene_synonym="RDC7"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="adenosine receptor A1 isoform 1"
                     /protein_id="NP_000665.1"
                     /db_xref="CCDS:CCDS1434.1"
                     /db_xref="GeneID:134"
                     /db_xref="HGNC:HGNC:262"
                     /db_xref="MIM:102775"
                     /translation="MPPSISAFQAAYIGIEVLIALVSVPGNVLVIWAVKVNQALRDATF
                     CFIVSLAVADVAVGALVIPLAILINIGPQTYFHTCLMVACPVLILTQSSILALLAIAVD
                     RYLRVKIPLRYKMVVTPRRAAVAIAGCWILSFVVGLTPMFGWNNLSAVERAWAANGSMG
                     EPVIKCEFEKVISMEYMVYFNFFVWVLPPLLLMVLIYLEVFYLIRKQLNKKVSASSGDP
                     QKYYGKELKIAKSLALILFLFALSWLPLHILNCITLFCPSCHKPSILTYIAIFLTHGNS
                     AMNPIVYAFRIQKFRVTFLKIWNDHFRCQPAPPIDEDLPEERPDD"
     misc_feature    446..514
                     /gene="ADORA1"
                     /gene_synonym="RDC7"
                     /note="propagated from UniProtKB/Swiss-Prot (P30542.1);
                     transmembrane region"
     misc_feature    554..622
                     /gene="ADORA1"
                     /gene_synonym="RDC7"
                     /note="propagated from UniProtKB/Swiss-Prot (P30542.1);
                     transmembrane region"
     misc_feature    656..721
                     /gene="ADORA1"
                     /gene_synonym="RDC7"
                     /note="propagated from UniProtKB/Swiss-Prot (P30542.1);
                     transmembrane region"
     misc_feature    785..853
                     /gene="ADORA1"
                     /gene_synonym="RDC7"
                     /note="propagated from UniProtKB/Swiss-Prot (P30542.1);
                     transmembrane region"
     misc_feature    890..892
                     /gene="ADORA1"
                     /gene_synonym="RDC7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30542.1); glycosylation site"
     misc_feature    944..1018
                     /gene="ADORA1"
                     /gene_synonym="RDC7"
                     /note="propagated from UniProtKB/Swiss-Prot (P30542.1);
                     transmembrane region"
     misc_feature    1121..1192
                     /gene="ADORA1"
                     /gene_synonym="RDC7"
                     /note="propagated from UniProtKB/Swiss-Prot (P30542.1);
                     transmembrane region"
     misc_feature    1217..1291
                     /gene="ADORA1"
                     /gene_synonym="RDC7"
                     /note="propagated from UniProtKB/Swiss-Prot (P30542.1);
                     transmembrane region"
     regulatory      2881..2886
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADORA1"
                     /gene_synonym="RDC7"
                     /note="hexamer: AATAAA"
     polyA_site      2901
                     /gene="ADORA1"
                     /gene_synonym="RDC7"
                     /note="major polyA site"
ORIGIN
        1 actcagctcc tgcgccgggg gcgacagagc cgcaggcgcc cgagtcgagt cccagccagc
       61 taccatccct ctggagctta ccggccggcc ttggcttccc caggaatccc tggagctagc
      121 ggctgctgaa ggcgtcgagg tgtgggggca cttggacaga acagtcaggc agccgggagc
      181 tctgccagct ttggtgacct tgggccgggc tgggagcgct gcggcgggag ccggaggact
      241 atgagctgcc gcgcgttgtc cagagcccag cccagcccta ccgcgcgcgg cccggagctc
      301 tgttccctgg aactttgggc actgcctctg ggacccctgc cggccagcag gcaggatggt
      361 gcttgcctcg tgccccttgg tgcccgtctg ctgatgtgcc cagcctgtgc ccgccatgcc
      421 gccctccatc tcagctttcc aggccgccta catcggcatc gaggtgctca tcgccctggt
      481 ctctgtgccc gggaacgtgc tggtgatctg ggcggtgaag gtgaaccagg cgctgcggga
      541 tgccaccttc tgcttcatcg tgtcgctggc ggtggctgat gtggccgtgg gtgccctggt
      601 catccccctc gccatcctca tcaacattgg gccacagacc tacttccaca cctgcctcat
      661 ggttgcctgt ccggtcctca tcctcaccca gagctccatc ctggccctgc tggcaattgc
      721 tgtggaccgc tacctccggg tcaagatccc tctccggtac aagatggtgg tgaccccccg
      781 gagggcggcg gtggccatag ccggctgctg gatcctctcc ttcgtggtgg gactgacccc
      841 tatgtttggc tggaacaatc tgagtgcggt ggagcgggcc tgggcagcca acggcagcat
      901 gggggagccc gtgatcaagt gcgagttcga gaaggtcatc agcatggagt acatggtcta
      961 cttcaacttc tttgtgtggg tgctgccccc gcttctcctc atggtcctca tctacctgga
     1021 ggtcttctac ctaatccgca agcagctcaa caagaaggtg tcggcctcct ccggcgaccc
     1081 gcagaagtac tatgggaagg agctgaagat cgccaagtcg ctggccctca tcctcttcct
     1141 ctttgccctc agctggctgc ctttgcacat cctcaactgc atcaccctct tctgcccgtc
     1201 ctgccacaag cccagcatcc ttacctacat tgccatcttc ctcacgcacg gcaactcggc
     1261 catgaacccc attgtctatg ccttccgcat ccagaagttc cgcgtcacct tccttaagat
     1321 ttggaatgac catttccgct gccagcctgc acctcccatt gacgaggatc tcccagaaga
     1381 gaggcctgat gactagaccc cgccttccgc tcccaccagc ccacatccag tggggtctca
     1441 gtccagtcct cacatgcccg ctgtcccagg ggtctccctg agcctgcccc agctgggctg
     1501 ttggctgggg gcatggggga ggctctgaag agatacccac agagtgtggt ccctccacta
     1561 ggagttaact accctacacc tctgggccct gcaggaggcc tgggagggca agggtcctac
     1621 ggagggacca ggtgtctaga ggcaacagtg ttctgagccc ccacctgcct gaccatccca
     1681 tgagcagtcc agagcttcag ggctgggcag gtcctgggga ggctgagact gcagaggagc
     1741 cacctgggct gggagaaggt gcttgggctt ctgcggtgag gcaggggagt ctgcttgtct
     1801 tagatgttgg tggtgcagcc ccaggaccaa gcttaaggag aggagagcat ctgctctgag
     1861 acggatggaa ggagagaggt tgaggatgca ctggcctgtt ctgtaggaga gactggccag
     1921 aggcagctaa ggggcaggaa tcaaggagcc tccgttccca cctctgagga ctctggaccc
     1981 caggccatac caggtgctag ggtgcctgct ctccttgccc tgggccagcc caggattgta
     2041 cgtgggagag gcagaaaggg taggttcagt aatcatttct gatatttgct ggagtgctgg
     2101 ctccacgccc tggggagtga gcttggtgcg gtaggtgctg gcctcaaaca gccacgaggt
     2161 ggtagctctg agccctcctt cttgccctga gctttccggg gaggagcctt ggagtgtaat
     2221 tacctgtcat ctgggccacc agctccactg gcctgcccgt tgccgggcct ggactgtcct
     2281 aggtgacccc atctctgctg cttctgggcc tgatggagag gagaacacta gacatgccaa
     2341 ctcgggagca ttctgcctgc ctgggaacgg ggtggacgag ggagtgtctg taaggactca
     2401 gtgttgactg taggcgcccc tggggtgggt ttagcaggct gcagcaggca gaggagagta
     2461 cccccctgag agcatgtggg ggaaggcctt gctgtcatgt gaatccctca atacccctag
     2521 tatctggctg ggttttcagg ggctttggaa gctctgttgc aggtgtccgg gggtctagga
     2581 ctttagggat ctggggaagg accaacccat gccctgccaa gcctggagcc cctgtgttgg
     2641 ggggcaaggt gggggagcct ggagcccctg tgtgggaggg cgaggcgggg gagcctggag
     2701 cccctgtgtg ggagggcgag gcgggggatc ctggagcccc tgtgtcgggg ggcgagggag
     2761 gggaggtggc cgtcgagttg accttctgaa catgagtgtc aactccagga cttgcttcca
     2821 agcccttccc tctgttggaa attgggtgtg ccctggctcc caagggaggc ccatgtgact
     2881 aataaaaaac tgtgaaccct g
//
LOCUS       NM_000675               2529 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens adenosine A2a receptor (ADORA2A), transcript variant 3,
            mRNA.
ACCESSION   NM_000675
VERSION     NM_000675.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2529)
  AUTHORS   Tichelman NL, Foerges AL, Elmenhorst EM, Lange D, Hennecke E, Baur
            DM, Beer S, Kroll T, Neumaier B, Bauer A, Landolt HP, Aeschbach D
            and Elmenhorst D.
  TITLE     A genetic variation in the adenosine A2A receptor gene contributes
            to variability in oscillatory alpha power in wake and sleep EEG and
            A1 adenosine receptor availability in the human brain
  JOURNAL   Neuroimage 280, 120345 (2023)
   PUBMED   37625500
  REMARK    GeneRIF: A genetic variation in the adenosine A2A receptor gene
            contributes to variability in oscillatory alpha power in wake and
            sleep EEG and A1 adenosine receptor availability in the human brain.
REFERENCE   2  (bases 1 to 2529)
  AUTHORS   Waggan I, Rissanen E, Tuisku J, Matilainen M, Parkkola R, Rinne JO
            and Airas L.
  TITLE     Adenosine A2A receptor availability in cerebral gray and white
            matter of patients with Parkinson's disease
  JOURNAL   Parkinsonism Relat Disord 113, 105766 (2023)
   PUBMED   37480614
  REMARK    GeneRIF: Adenosine A2A receptor availability in cerebral gray and
            white matter of patients with Parkinson's disease.
REFERENCE   3  (bases 1 to 2529)
  AUTHORS   Lebon G, Warne T, Edwards PC, Bennett K, Langmead CJ, Leslie AG and
            Tate CG.
  TITLE     Agonist-bound adenosine A2A receptor structures reveal common
            features of GPCR activation
  JOURNAL   Nature 474 (7352), 521-525 (2011)
   PUBMED   21593763
  REMARK    GeneRIF: crystal structures of the thermostabilized human adenosine
            A(2A) receptor (A(2A)R-GL31) bound to its endogenous agonist
            adenosine and the synthetic agonist NECA Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 2529)
  AUTHORS   Xu F, Wu H, Katritch V, Han GW, Jacobson KA, Gao ZG, Cherezov V and
            Stevens RC.
  TITLE     Structure of an agonist-bound human A2A adenosine receptor
  JOURNAL   Science 332 (6027), 322-327 (2011)
   PUBMED   21393508
  REMARK    GeneRIF: study reports the crystal structure of the A(2A) adenosine
            receptor bound to an agonist UK-432097 at 2.7 angstrom resolution
REFERENCE   5  (bases 1 to 2529)
  AUTHORS   Jaakola VP, Griffith MT, Hanson MA, Cherezov V, Chien EY, Lane JR,
            Ijzerman AP and Stevens RC.
  TITLE     The 2.6 angstrom crystal structure of a human A2A adenosine receptor
            bound to an antagonist
  JOURNAL   Science 322 (5905), 1211-1217 (2008)
   PUBMED   18832607
REFERENCE   6  (bases 1 to 2529)
  AUTHORS   Le F, Townsend-Nicholson A, Baker E, Sutherland GR and Schofield PR.
  TITLE     Characterization and chromosomal localization of the human A2a
            adenosine receptor gene: ADORA2A
  JOURNAL   Biochem Biophys Res Commun 223 (2), 461-467 (1996)
   PUBMED   8670304
REFERENCE   7  (bases 1 to 2529)
  AUTHORS   MacCollin M, Peterfreund R, MacDonald M, Fink JS and Gusella J.
  TITLE     Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22
  JOURNAL   Genomics 20 (2), 332-333 (1994)
   PUBMED   8020991
REFERENCE   8  (bases 1 to 2529)
  AUTHORS   Makujina SR, Sabouni MH, Bhatia S, Douglas FL and Mustafa SJ.
  TITLE     Vasodilatory effects of adenosine A2 receptor agonists CGS 21680 and
            CGS 22492 in human vasculature
  JOURNAL   Eur J Pharmacol 221 (2-3), 243-247 (1992)
   PUBMED   1426003
REFERENCE   9  (bases 1 to 2529)
  AUTHORS   Furlong TJ, Pierce KD, Selbie LA and Shine J.
  TITLE     Molecular characterization of a human brain adenosine A2 receptor
  JOURNAL   Brain Res Mol Brain Res 15 (1-2), 62-66 (1992)
   PUBMED   1331670
REFERENCE   10  (bases 1 to 2529)
  AUTHORS   Libert F, Passage E, Parmentier M, Simons MJ, Vassart G and Mattei
            MG.
  TITLE     Chromosomal mapping of A1 and A2 adenosine receptors, VIP receptor,
            and a new subtype of serotonin receptor
  JOURNAL   Genomics 11 (1), 225-227 (1991)
   PUBMED   1662665
  REMARK    Erratum:[Genomics 1994 Sep 1;23(1):305]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC013780.1, SRR1163658.166108.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000337539.12/ ENSP00000336630.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA942067.1, BC013780.1,
            AK123058.1 and CA307692.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000675.5.
            Summary: This gene encodes a member of the guanine
            nucleotide-binding protein (G protein)-coupled receptor (GPCR)
            superfamily, which is subdivided into classes and subtypes. The
            receptors are seven-pass transmembrane proteins that respond to
            extracellular cues and activate intracellular signal transduction
            pathways. This protein, an adenosine receptor of A2A subtype, uses
            adenosine as the preferred endogenous agonist and preferentially
            interacts with the G(s) and G(olf) family of G proteins to increase
            intracellular cAMP levels. It plays an important role in many
            biological functions, such as cardiac rhythm and circulation,
            cerebral and renal blood flow, immune function, pain regulation,
            and sleep. It has been implicated in pathophysiological conditions
            such as inflammatory diseases and neurodegenerative disorders.
            Alternative splicing results in multiple transcript variants. A
            read-through transcript composed of the upstream SPECC1L (sperm
            antigen with calponin homology and coiled-coil domains 1-like) and
            ADORA2A (adenosine A2a receptor) gene sequence has been identified,
            but it is thought to be non-coding. [provided by RefSeq, Jun 2013].
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants, 1, 2, 3, 4, and 5 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2529
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     gene            1..2529
                     /gene="ADORA2A"
                     /gene_synonym="A2aR; ADORA2; RDC8"
                     /note="adenosine A2a receptor"
                     /db_xref="GeneID:135"
                     /db_xref="HGNC:HGNC:263"
                     /db_xref="MIM:102776"
     misc_feature    399..401
                     /gene="ADORA2A"
                     /gene_synonym="A2aR; ADORA2; RDC8"
                     /note="upstream in-frame stop codon"
     CDS             423..1661
                     /gene="ADORA2A"
                     /gene_synonym="A2aR; ADORA2; RDC8"
                     /note="adenosine receptor subtype A2a"
                     /codon_start=1
                     /product="adenosine receptor A2a"
                     /protein_id="NP_000666.2"
                     /db_xref="CCDS:CCDS13826.1"
                     /db_xref="GeneID:135"
                     /db_xref="HGNC:HGNC:263"
                     /db_xref="MIM:102776"
                     /translation="MPIMGSSVYITVELAIAVLAILGNVLVCWAVWLNSNLQNVTNYFV
                     VSLAAADIAVGVLAIPFAITISTGFCAACHGCLFIACFVLVLTQSSIFSLLAIAIDRYI
                     AIRIPLRYNGLVTGTRAKGIIAICWVLSFAIGLTPMLGWNNCGQPKEGKNHSQGCGEGQ
                     VACLFEDVVPMNYMVYFNFFACVLVPLLLMLGVYLRIFLAARRQLKQMESQPLPGERAR
                     STLQKEVHAAKSLAIIVGLFALCWLPLHIINCFTFFCPDCSHAPLWLMYLAIVLSHTNS
                     VVNPFIYAYRIREFRQTFRKIIRSHVLRQQEPFKAAGTSARVLAAHGSDGEQVSLRLNG
                     HPPGVWANGSAPHPERRPNGYALGLVSGGSAQESQGNTGLPDVELLSHELKGVCPEPPG
                     LDDPLAQDGAGVS"
     misc_feature    444..518
                     /gene="ADORA2A"
                     /gene_synonym="A2aR; ADORA2; RDC8"
                     /note="propagated from UniProtKB/Swiss-Prot (P29274.2);
                     transmembrane region"
     misc_feature    549..620
                     /gene="ADORA2A"
                     /gene_synonym="A2aR; ADORA2; RDC8"
                     /note="propagated from UniProtKB/Swiss-Prot (P29274.2);
                     transmembrane region"
     misc_feature    654..722
                     /gene="ADORA2A"
                     /gene_synonym="A2aR; ADORA2; RDC8"
                     /note="propagated from UniProtKB/Swiss-Prot (P29274.2);
                     transmembrane region"
     misc_feature    783..851
                     /gene="ADORA2A"
                     /gene_synonym="A2aR; ADORA2; RDC8"
                     /note="propagated from UniProtKB/Swiss-Prot (P29274.2);
                     transmembrane region"
     misc_feature    882..884
                     /gene="ADORA2A"
                     /gene_synonym="A2aR; ADORA2; RDC8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P29274.2); glycosylation site"
     misc_feature    942..1016
                     /gene="ADORA2A"
                     /gene_synonym="A2aR; ADORA2; RDC8"
                     /note="propagated from UniProtKB/Swiss-Prot (P29274.2);
                     transmembrane region"
     misc_feature    1125..1196
                     /gene="ADORA2A"
                     /gene_synonym="A2aR; ADORA2; RDC8"
                     /note="propagated from UniProtKB/Swiss-Prot (P29274.2);
                     transmembrane region"
     misc_feature    1221..1292
                     /gene="ADORA2A"
                     /gene_synonym="A2aR; ADORA2; RDC8"
                     /note="propagated from UniProtKB/Swiss-Prot (P29274.2);
                     transmembrane region"
     misc_feature    1593..1658
                     /gene="ADORA2A"
                     /gene_synonym="A2aR; ADORA2; RDC8"
                     /note="propagated from UniProtKB/Swiss-Prot (P29274.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2488..2493
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADORA2A"
                     /gene_synonym="A2aR; ADORA2; RDC8"
                     /note="hexamer: AATAAA"
     polyA_site      2529
                     /gene="ADORA2A"
                     /gene_synonym="A2aR; ADORA2; RDC8"
                     /note="major polyA site"
ORIGIN
        1 gaagctctgc ctgggcctca gggactgtga catggagcag gagccgcccc cagccaagct
       61 gctttcagca cagcgtgggc ccccagcacc ttggtgcggg gtgcggcccc tcggaggagg
      121 gctgtcaggt gaagcctcgt gtgagggggt gcctcaggaa ccctgaagct gggctgagcc
      181 atgatgctgc tgccagaacc cctgcagagg gcctggtttc aggagactca gagtcctctg
      241 tgaaaaagcc cttggagagc gccccagcag ggctgcactt ggctcctgtg aggaaggggc
      301 tcaggggtct gggcccctcc gcctgggccg ggctgggagc caggcgggcg gctgggctgc
      361 agcaatggac cgtgagctgg cccagcccgc gtccgtgctg agcctgcctg tcgtctgtgg
      421 ccatgcccat catgggctcc tcggtgtaca tcacggtgga gctggccatt gctgtgctgg
      481 ccatcctggg caatgtgctg gtgtgctggg ccgtgtggct caacagcaac ctgcagaacg
      541 tcaccaacta ctttgtggtg tcactggcgg cggccgacat cgcagtgggt gtgctcgcca
      601 tcccctttgc catcaccatc agcaccgggt tctgcgctgc ctgccacggc tgcctcttca
      661 ttgcctgctt cgtcctggtc ctcacgcaga gctccatctt cagtctcctg gccatcgcca
      721 ttgaccgcta cattgccatc cgcatcccgc tccggtacaa tggcttggtg accggcacga
      781 gggctaaggg catcattgcc atctgctggg tgctgtcgtt tgccatcggc ctgactccca
      841 tgctaggttg gaacaactgc ggtcagccaa aggagggcaa gaaccactcc cagggctgcg
      901 gggagggcca agtggcctgt ctctttgagg atgtggtccc catgaactac atggtgtact
      961 tcaacttctt tgcctgtgtg ctggtgcccc tgctgctcat gctgggtgtc tatttgcgga
     1021 tcttcctggc ggcgcgacga cagctgaagc agatggagag ccagcctctg ccgggggagc
     1081 gggcacggtc cacactgcag aaggaggtcc atgctgccaa gtcactggcc atcattgtgg
     1141 ggctctttgc cctctgctgg ctgcccctac acatcatcaa ctgcttcact ttcttctgcc
     1201 ccgactgcag ccacgcccct ctctggctca tgtacctggc catcgtcctc tcccacacca
     1261 attcggttgt gaatcccttc atctacgcct accgtatccg cgagttccgc cagaccttcc
     1321 gcaagatcat tcgcagccac gtcctgaggc agcaagaacc tttcaaggca gctggcacca
     1381 gtgcccgggt cttggcagct catggcagtg acggagagca ggtcagcctc cgtctcaacg
     1441 gccacccgcc aggagtgtgg gccaacggca gtgctcccca ccctgagcgg aggcccaatg
     1501 gctatgccct ggggctggtg agtggaggga gtgcccaaga gtcccagggg aacacgggcc
     1561 tcccagacgt ggagctcctt agccatgagc tcaagggagt gtgcccagag ccccctggcc
     1621 tagatgaccc cctggcccag gatggagcag gagtgtcctg atgattcatg gagtttgccc
     1681 cttcctaagg gaaggagatc tttatctttc tggttggctt gaccagtcac gttgggagaa
     1741 gagagagagt gccaggagac cctgagggca gccggttcct actttggact gagagaaggg
     1801 agccccaggc tggagcagca tgaggcccag caagaagggc ttgggttctg aggaagcaga
     1861 tgtttcatgc tgtgaggcct tgcaccaggt gggggccaca gcaccagcag catctttgct
     1921 gggcagggcc cagccctcca ctgcagaagc atctggaagc accaccttgt ctccacagag
     1981 cagcttgggc acagcagact ggcctggccc tgagactggg gagtggctcc aacagcctcc
     2041 tgccacccac acaccactct ccctagactc tcctagggtt caggagctgc tgggcccaga
     2101 ggtgacattt gacttttttc caggaaaaat gtaagtgtga ggaaaccctt tttattttat
     2161 tacctttcac tctctggctg ctgggtctgc cgtcggtcct gctgctaacc tggcaccaga
     2221 gcctctgccc ggggagcctc aggcagtcct ctcctgctgt cacagctgcc atccacttct
     2281 cagtcccagg gccatctctt ggagtgacaa agctgggatc aaggacaggg agttgtaaca
     2341 gagcagtgcc agagcatggg cccaggtccc aggggagagg ttggggctgg caggccactg
     2401 gcatgtgctg agtagcgcag agctacccag tgagaggcct tgtctaactg cctttccttc
     2461 taaagggaat gtttttttct gagataaaat aaaaacgagc cacatcgtgt tttaagcttg
     2521 tccaaatga
//
LOCUS       NM_000676               1522 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens adenosine A2b receptor (ADORA2B), mRNA.
ACCESSION   NM_000676
VERSION     NM_000676.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1522)
  AUTHORS   Strickland LN, Faraoni EY, Ruan W, Yuan X, Eltzschig HK and
            Bailey-Lundberg JM.
  TITLE     The resurgence of the Adora2b receptor as an immunotherapeutic
            target in pancreatic cancer
  JOURNAL   Front Immunol 14, 1163585 (2023)
   PUBMED   37187740
  REMARK    GeneRIF: The resurgence of the Adora2b receptor as an
            immunotherapeutic target in pancreatic cancer. Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1522)
  AUTHORS   Faraoni EY, Singh K, Chandra V, Le Roux O, Dai Y, Sahin I, O'Brien
            BJ, Strickland LN, Li L, Vucic E, Warner AN, Pruski M, Clark T, Van
            Buren G, Thosani NC, Bynon JS, Wray CJ, Bar-Sagi D, Poulsen KL,
            Vornik LA, Savage MI, Sei S, Mohammed A, Zhao Z, Brown PH, Mills T,
            Eltzschig HK, McAllister F and Bailey-Lundberg JM.
  TITLE     CD73-Dependent Adenosine Signaling through Adora2b Drives
            Immunosuppression in Ductal Pancreatic Cancer
  JOURNAL   Cancer Res 83 (7), 1111-1127 (2023)
   PUBMED   36720042
  REMARK    GeneRIF: CD73-Dependent Adenosine Signaling through Adora2b Drives
            Immunosuppression in Ductal Pancreatic Cancer.
REFERENCE   3  (bases 1 to 1522)
  AUTHORS   Campos-Contreras ADR, Gonzalez-Gallardo A, Diaz-Munoz M and
            Vazquez-Cuevas FG.
  TITLE     Adenosine Receptor A2B Negatively Regulates Cell Migration in
            Ovarian Carcinoma Cells
  JOURNAL   Int J Mol Sci 23 (9), 4585 (2022)
   PUBMED   35562985
  REMARK    GeneRIF: Adenosine Receptor A2B Negatively Regulates Cell Migration
            in Ovarian Carcinoma Cells. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1522)
  AUTHORS   Kim J, Shin JY, Choi YH, Lee SY, Jin MH, Kim CD, Kang NG and Lee S.
  TITLE     Adenosine and Cordycepin Accelerate Tissue Remodeling Process
            through Adenosine Receptor Mediated Wnt/beta-Catenin Pathway
            Stimulation by Regulating GSK3b Activity
  JOURNAL   Int J Mol Sci 22 (11), 5571 (2021)
   PUBMED   34070360
  REMARK    GeneRIF: Adenosine and Cordycepin Accelerate Tissue Remodeling
            Process through Adenosine Receptor Mediated Wnt/beta-Catenin Pathway
            Stimulation by Regulating GSK3b Activity. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 1522)
  AUTHORS   Eudy BJ and da Silva RP.
  TITLE     Systematic deletion of adenosine receptors reveals novel roles in
            inflammation and pyroptosis in THP-1 macrophages
  JOURNAL   Mol Immunol 132, 1-7 (2021)
   PUBMED   33524770
  REMARK    GeneRIF: Systematic deletion of adenosine receptors reveals novel
            roles in inflammation and pyroptosis in THP-1 macrophages.
REFERENCE   6  (bases 1 to 1522)
  AUTHORS   Jacobson MA, Johnson RG, Luneau CJ and Salvatore CA.
  TITLE     Cloning and chromosomal localization of the human A2b adenosine
            receptor gene (ADORA2B) and its pseudogene
  JOURNAL   Genomics 27 (2), 374-376 (1995)
   PUBMED   7558011
REFERENCE   7  (bases 1 to 1522)
  AUTHORS   Strohmeier GR, Reppert SM, Lencer WI and Madara JL.
  TITLE     The A2b adenosine receptor mediates cAMP responses to adenosine
            receptor agonists in human intestinal epithelia
  JOURNAL   J Biol Chem 270 (5), 2387-2394 (1995)
   PUBMED   7836474
REFERENCE   8  (bases 1 to 1522)
  AUTHORS   Townsend-Nicholson A, Baker E, Sutherland GR and Schofield PR.
  TITLE     Localization of the adenosine A2b receptor subtype gene (ADORA2B) to
            chromosome 17p11.2-p12 by FISH and PCR screening of somatic cell
            hybrids
  JOURNAL   Genomics 25 (2), 605-607 (1995)
   PUBMED   7790006
REFERENCE   9  (bases 1 to 1522)
  AUTHORS   Pierce KD, Furlong TJ, Selbie LA and Shine J.
  TITLE     Molecular cloning and expression of an adenosine A2b receptor from
            human brain
  JOURNAL   Biochem Biophys Res Commun 187 (1), 86-93 (1992)
   PUBMED   1325798
REFERENCE   10  (bases 1 to 1522)
  AUTHORS   Stiles GL.
  TITLE     Adenosine receptors
  JOURNAL   J Biol Chem 267 (10), 6451-6454 (1992)
   PUBMED   1551861
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X68487.1, M97759.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000304222.3/ ENSP00000304501.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006251.3.
            On Nov 20, 2020 this sequence version replaced NM_000676.3.
            Summary: This gene encodes an adenosine receptor that is a member
            of the G protein-coupled receptor superfamily. This integral
            membrane protein stimulates adenylate cyclase activity in the
            presence of adenosine. This protein also interacts with netrin-1,
            which is involved in axon elongation. The gene is located near the
            Smith-Magenis syndrome region on chromosome 17. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1522
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p12"
     gene            1..1522
                     /gene="ADORA2B"
                     /gene_synonym="ADORA2"
                     /note="adenosine A2b receptor"
                     /db_xref="GeneID:136"
                     /db_xref="HGNC:HGNC:264"
                     /db_xref="MIM:600446"
     CDS             120..1118
                     /gene="ADORA2B"
                     /gene_synonym="ADORA2"
                     /codon_start=1
                     /product="adenosine receptor A2b"
                     /protein_id="NP_000667.1"
                     /db_xref="CCDS:CCDS11173.1"
                     /db_xref="GeneID:136"
                     /db_xref="HGNC:HGNC:264"
                     /db_xref="MIM:600446"
                     /translation="MLLETQDALYVALELVIAALSVAGNVLVCAAVGTANTLQTPTNYF
                     LVSLAAADVAVGLFAIPFAITISLGFCTDFYGCLFLACFVLVLTQSSIFSLLAVAVDRY
                     LAICVPLRYKSLVTGTRARGVIAVLWVLAFGIGLTPFLGWNSKDSATNNCTEPWDGTTN
                     ESCCLVKCLFENVVPMSYMVYFNFFGCVLPPLLIMLVIYIKIFLVACRQLQRTELMDHS
                     RTTLQREIHAAKSLAMIVGIFALCWLPVHAVNCVTLFQPAQGKNKPKWAMNMAILLSHA
                     NSVVNPIVYAYRNRDFRYTFHKIISRYLLCQADVKSGNGQAGVQPALGVGL"
     misc_feature    144..218
                     /gene="ADORA2B"
                     /gene_synonym="ADORA2"
                     /note="propagated from UniProtKB/Swiss-Prot (P29275.1);
                     transmembrane region"
     misc_feature    249..320
                     /gene="ADORA2B"
                     /gene_synonym="ADORA2"
                     /note="propagated from UniProtKB/Swiss-Prot (P29275.1);
                     transmembrane region"
     misc_feature    354..422
                     /gene="ADORA2B"
                     /gene_synonym="ADORA2"
                     /note="propagated from UniProtKB/Swiss-Prot (P29275.1);
                     transmembrane region"
     misc_feature    483..551
                     /gene="ADORA2B"
                     /gene_synonym="ADORA2"
                     /note="propagated from UniProtKB/Swiss-Prot (P29275.1);
                     transmembrane region"
     misc_feature    576..578
                     /gene="ADORA2B"
                     /gene_synonym="ADORA2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P29275.1); glycosylation site"
     misc_feature    606..608
                     /gene="ADORA2B"
                     /gene_synonym="ADORA2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P29275.1); glycosylation site"
     misc_feature    654..728
                     /gene="ADORA2B"
                     /gene_synonym="ADORA2"
                     /note="propagated from UniProtKB/Swiss-Prot (P29275.1);
                     transmembrane region"
     misc_feature    825..896
                     /gene="ADORA2B"
                     /gene_synonym="ADORA2"
                     /note="propagated from UniProtKB/Swiss-Prot (P29275.1);
                     transmembrane region"
     misc_feature    921..992
                     /gene="ADORA2B"
                     /gene_synonym="ADORA2"
                     /note="propagated from UniProtKB/Swiss-Prot (P29275.1);
                     transmembrane region"
     regulatory      1495..1500
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADORA2B"
                     /gene_synonym="ADORA2"
                     /note="hexamer: AATAAA"
     polyA_site      1522
                     /gene="ADORA2B"
                     /gene_synonym="ADORA2"
                     /note="major polyA site"
ORIGIN
        1 agaagcggca ggcggaggcg cggtccgggc gctatggcca tgcccggcgg gtctcacgcg
       61 gctgcccctc gcccggcgcg ccttcggtag ggggcgcccg gggcccagct ggcccggcca
      121 tgctgctgga gacacaggac gcgctgtacg tggcgctgga gctggtcatc gccgcgcttt
      181 cggtggcggg caacgtgctg gtgtgcgccg cggtgggcac ggcgaacact ctgcagacgc
      241 ccaccaacta cttcctggtg tccctggctg cggccgacgt ggccgtgggg ctcttcgcca
      301 tcccctttgc catcaccatc agcctgggct tctgcactga cttctacggc tgcctcttcc
      361 tcgcctgctt cgtgctggtg ctcacgcaga gctccatctt cagccttctg gccgtggcag
      421 tcgacagata cctggccatc tgtgtcccgc tcaggtataa aagtttggtc acggggaccc
      481 gagcaagagg ggtcattgct gtcctctggg tccttgcctt tggcatcgga ttgactccat
      541 tcctggggtg gaacagtaaa gacagtgcca ccaacaactg cacagaaccc tgggatggaa
      601 ccacgaatga aagctgctgc cttgtgaagt gtctctttga gaatgtggtc cccatgagct
      661 acatggtata tttcaatttc tttgggtgtg ttctgccccc actgcttata atgctggtga
      721 tctacattaa gatcttcctg gtggcctgca ggcagcttca gcgcactgag ctgatggacc
      781 actcgaggac caccctccag cgggagatcc atgcagccaa gtcactggcc atgattgtgg
      841 ggatttttgc cctgtgctgg ttacctgtgc atgctgttaa ctgtgtcact cttttccagc
      901 cagctcaggg taaaaataag cccaagtggg caatgaatat ggccattctt ctgtcacatg
      961 ccaattcagt tgtcaatccc attgtctatg cttaccggaa ccgagacttc cgctacactt
     1021 ttcacaaaat tatctccagg tatcttctct gccaagcaga tgtcaagagt gggaatggtc
     1081 aggctggggt acagcctgct ctcggtgtgg gcctatgatc taggctctcg cctcttccag
     1141 gagaagatac aaatccacaa gaaacaaaga ggacacggct ggttttcatt gtgaaagata
     1201 gctacacctc acaaggaaat ggactgcctc tcttgagcac ttccctggag ctaccacgta
     1261 tctagctaat atgtatgtgt cagtagtagg ctccaaggat tgacaaatat atttatgatc
     1321 tattcagctg cttttactgt gtggattatg ccaacagctt gaatggattc taacagactc
     1381 ttttgttttt aaaagtctgc cttgtttatg gtggaaaatt actgaaacta ttttactgtg
     1441 aaacagtgtg aactattata atgcaaatac tttttaactt agaggcaatg gaaaaataaa
     1501 agttgactgt actaaaaatg ta
//
LOCUS       NM_000677               1757 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens adenosine A3 receptor (ADORA3), transcript variant A,
            mRNA.
ACCESSION   NM_000677
VERSION     NM_000677.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1757)
  AUTHORS   Coppi E, Cherchi F, Lucarini E, Ghelardini C, Pedata F, Jacobson KA,
            Di Cesare Mannelli L, Pugliese AM and Salvemini D.
  TITLE     Uncovering the Mechanisms of Adenosine Receptor-Mediated Pain
            Control: Focus on the A3 Receptor Subtype
  JOURNAL   Int J Mol Sci 22 (15), 7952 (2021)
   PUBMED   34360719
  REMARK    GeneRIF: Uncovering the Mechanisms of Adenosine Receptor-Mediated
            Pain Control: Focus on the A3 Receptor Subtype. Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1757)
  AUTHORS   Eudy BJ and da Silva RP.
  TITLE     Systematic deletion of adenosine receptors reveals novel roles in
            inflammation and pyroptosis in THP-1 macrophages
  JOURNAL   Mol Immunol 132, 1-7 (2021)
   PUBMED   33524770
  REMARK    GeneRIF: Systematic deletion of adenosine receptors reveals novel
            roles in inflammation and pyroptosis in THP-1 macrophages.
REFERENCE   3  (bases 1 to 1757)
  AUTHORS   Ogawa A, Nagiri C, Shihoya W, Inoue A, Kawakami K, Hiratsuka S, Aoki
            J, Ito Y, Suzuki T, Suzuki T, Inoue T, Nureki O, Tanihara H,
            Tomizawa K and Wei FY.
  TITLE     N6-methyladenosine (m6A) is an endogenous A3 adenosine receptor
            ligand
  JOURNAL   Mol Cell 81 (4), 659-674 (2021)
   PUBMED   33472058
  REMARK    GeneRIF: N(6)-methyladenosine (m(6)A) is an endogenous A3 adenosine
            receptor ligand.
REFERENCE   4  (bases 1 to 1757)
  AUTHORS   Atkinson MR, Townsend-Nicholson A, Nicholl JK, Sutherland GR and
            Schofield PR.
  TITLE     Cloning, characterisation and chromosomal assignment of the human
            adenosine A3 receptor (ADORA3) gene
  JOURNAL   Neurosci Res 29 (1), 73-79 (1997)
   PUBMED   9293494
REFERENCE   5  (bases 1 to 1757)
  AUTHORS   Bouma MG, Jeunhomme TM, Boyle DL, Dentener MA, Voitenok NN, van den
            Wildenberg FA and Buurman WA.
  TITLE     Adenosine inhibits neutrophil degranulation in activated human whole
            blood: involvement of adenosine A2 and A3 receptors
  JOURNAL   J Immunol 158 (11), 5400-5408 (1997)
   PUBMED   9164961
REFERENCE   6  (bases 1 to 1757)
  AUTHORS   Murrison EM, Goodson SJ, Edbrooke MR and Harris CA.
  TITLE     Cloning and characterisation of the human adenosine A3 receptor gene
  JOURNAL   FEBS Lett 384 (3), 243-246 (1996)
   PUBMED   8617363
REFERENCE   7  (bases 1 to 1757)
  AUTHORS   Monitto CL, Levitt RC, DiSilvestre D and Holroyd KJ.
  TITLE     Localization of the A3 adenosine receptor gene (ADORA3) to human
            chromosome 1p
  JOURNAL   Genomics 26 (3), 637-638 (1995)
   PUBMED   7607699
REFERENCE   8  (bases 1 to 1757)
  AUTHORS   Salvatore CA, Jacobson MA, Taylor HE, Linden J and Johnson RG.
  TITLE     Molecular cloning and characterization of the human A3 adenosine
            receptor
  JOURNAL   Proc Natl Acad Sci U S A 90 (21), 10365-10369 (1993)
   PUBMED   8234299
REFERENCE   9  (bases 1 to 1757)
  AUTHORS   Sajjadi FG and Firestein GS.
  TITLE     cDNA cloning and sequence analysis of the human A3 adenosine
            receptor
  JOURNAL   Biochim Biophys Acta 1179 (1), 105-107 (1993)
   PUBMED   8399349
REFERENCE   10  (bases 1 to 1757)
  AUTHORS   Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M and Kaziro Y.
  TITLE     Presence of three distinct molecular species of Gi protein alpha
            subunit. Structure of rat cDNAs and human genomic DNAs
  JOURNAL   J Biol Chem 263 (14), 6656-6664 (1988)
   PUBMED   2834384
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L22607.1, X76981.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000241356.5/ ENSP00000241356.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC029831.1, AL390195.10 and
            BM675096.1.
            On Aug 31, 2019 this sequence version replaced NM_000677.3.
            Summary: This gene encodes a protein that belongs to the family of
            adenosine receptors, which are G-protein-coupled receptors that are
            involved in a variety of intracellular signaling pathways and
            physiological functions. The receptor encoded by this gene mediates
            a sustained cardioprotective function during cardiac ischemia, it
            is involved in the inhibition of neutrophil degranulation in
            neutrophil-mediated tissue injury, it has been implicated in both
            neuroprotective and neurodegenerative effects, and it may also
            mediate both cell proliferation and cell death. Alternative
            splicing results in multiple transcript variants. This gene shares
            its 5' terminal exon with some transcripts from overlapping
            GeneID:57413, which encodes an immunoglobulin domain-containing
            protein. [provided by RefSeq, Nov 2014].
            Transcript Variant: This variant (A) encodes the longest isoform
            (A).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1757
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     gene            1..1757
                     /gene="ADORA3"
                     /gene_synonym="A3AR"
                     /note="adenosine A3 receptor"
                     /db_xref="GeneID:140"
                     /db_xref="HGNC:HGNC:268"
                     /db_xref="MIM:600445"
     misc_feature    208..210
                     /gene="ADORA3"
                     /gene_synonym="A3AR"
                     /note="upstream in-frame stop codon"
     CDS             280..1236
                     /gene="ADORA3"
                     /gene_synonym="A3AR"
                     /note="isoform A is encoded by transcript variant A"
                     /codon_start=1
                     /product="adenosine receptor A3 isoform A"
                     /protein_id="NP_000668.1"
                     /db_xref="CCDS:CCDS839.1"
                     /db_xref="GeneID:140"
                     /db_xref="HGNC:HGNC:268"
                     /db_xref="MIM:600445"
                     /translation="MPNNSTALSLANVTYITMEIFIGLCAIVGNVLVICVVKLNPSLQT
                     TTFYFIVSLALADIAVGVLVMPLAIVVSLGITIHFYSCLFMTCLLLIFTHASIMSLLAI
                     AVDRYLRVKLTVRYKRVTTHRRIWLALGLCWLVSFLVGLTPMFGWNMKLTSEYHRNVTF
                     LSCQFVSVMRMDYMVYFSFLTWIFIPLVVMCAIYLDIFYIIRNKLSLNLSNSKETGAFY
                     GREFKTAKSLFLVLFLFALSWLPLSIINCIIYFNGEVPQLVLYMGILLSHANSMMNPIV
                     YAYKIKKFKETYLLILKACVVCHPSDSLDTSIEKNSE"
     misc_feature    286..288
                     /gene="ADORA3"
                     /gene_synonym="A3AR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P0DMS8.1); glycosylation site"
     misc_feature    289..291
                     /gene="ADORA3"
                     /gene_synonym="A3AR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P0DMS8.1); glycosylation site"
     misc_feature    313..315
                     /gene="ADORA3"
                     /gene_synonym="A3AR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P0DMS8.1); glycosylation site"
     misc_feature    322..390
                     /gene="ADORA3"
                     /gene_synonym="A3AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DMS8.1);
                     transmembrane region"
     misc_feature    424..495
                     /gene="ADORA3"
                     /gene_synonym="A3AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DMS8.1);
                     transmembrane region"
     misc_feature    532..597
                     /gene="ADORA3"
                     /gene_synonym="A3AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DMS8.1);
                     transmembrane region"
     misc_feature    658..723
                     /gene="ADORA3"
                     /gene_synonym="A3AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DMS8.1);
                     transmembrane region"
     misc_feature    811..873
                     /gene="ADORA3"
                     /gene_synonym="A3AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DMS8.1);
                     transmembrane region"
     misc_feature    973..1044
                     /gene="ADORA3"
                     /gene_synonym="A3AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DMS8.1);
                     transmembrane region"
     misc_feature    1063..1131
                     /gene="ADORA3"
                     /gene_synonym="A3AR"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DMS8.1);
                     transmembrane region"
     regulatory      1739..1744
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADORA3"
                     /gene_synonym="A3AR"
                     /note="hexamer: AATAAA"
     polyA_site      1757
                     /gene="ADORA3"
                     /gene_synonym="A3AR"
                     /note="major polyA site"
ORIGIN
        1 agtccatata gagctgtcct acagcattct ggaaacttga ggatgtgcgg tgcataaagg
       61 ggctggaagt gacccacctg tgatgagccc tttctaagga gaagggtttc caagagatca
      121 ccccaccaga aaagggtagg aatgagcaag ttgggaattt tagactgtca ctgcacatgg
      181 acctctggga agacgtctgg cgagagctag gcccactggc cctacagacg gatcttgctg
      241 gctcacctgt ccctgtggag gttcccctgg gaaggcaaga tgcccaacaa cagcactgct
      301 ctgtcattgg ccaatgttac ctacatcacc atggaaattt tcattggact ctgcgccata
      361 gtgggcaacg tgctggtcat ctgcgtggtc aagctgaacc ccagcctgca gaccaccacc
      421 ttctatttca ttgtctctct agccctggct gacattgctg ttggggtgct ggtcatgcct
      481 ttggccattg ttgtcagcct gggcatcaca atccacttct acagctgcct ttttatgact
      541 tgcctactgc ttatctttac ccacgcctcc atcatgtcct tgctggccat cgctgtggac
      601 cgatacttgc gggtcaagct taccgtcaga tacaagaggg tcaccactca cagaagaata
      661 tggctggccc tgggcctttg ctggctggtg tcattcctgg tgggattgac ccccatgttt
      721 ggctggaaca tgaaactgac ctcagagtac cacagaaatg tcaccttcct ttcatgccaa
      781 tttgtttccg tcatgagaat ggactacatg gtatacttca gcttcctcac ctggattttc
      841 atccccctgg ttgtcatgtg cgccatctat cttgacatct tttacatcat tcggaacaaa
      901 ctcagtctga acttatctaa ctccaaagag acaggtgcat tttatggacg ggagttcaag
      961 acggctaagt ccttgtttct ggttcttttc ttgtttgctc tgtcatggct gcctttatct
     1021 atcatcaact gcatcatcta ctttaatggt gaggtaccac agcttgtgct gtacatgggc
     1081 atcctgctgt cccatgccaa ctccatgatg aaccctatcg tctatgccta taaaataaag
     1141 aagttcaagg aaacctacct tttgatcctc aaagcttgtg tggtctgcca tccctctgat
     1201 tctttggaca caagcattga gaagaattct gagtagttat ccatcagaga tgactctgtc
     1261 tcattgacct tcagattccc catcaacaaa cacttgaggg cctgtatgcc tgggccaagg
     1321 gatttttaca tccttgatta cttccactga ggtgggagca tctccagtgc tccccaatta
     1381 tatctccccc actccactac tctcttcctc cacttcattt ttcccttgtc ctttctctct
     1441 aattcagtgt tttggaggcc tgacttgggg acaacgtatt attgatatta ttgtctgttt
     1501 tccttcttcc caatagaaga ataagtcatg gagcctgaag ggtgcctagt tgacttactg
     1561 acaaaaggct ccagttgggc tgaacatgtg tgtggtggtg actcatttcc ataccattgt
     1621 ggaattgagc agagaacctg ctctcggagg atgcctagga gatgttggga acagaaaaaa
     1681 taaactgagt ttaaggggga cttaaactgc tgaattcacc tgtggatgtt tttgagtaaa
     1741 taaaagctaa tagctaa
//
LOCUS       NM_000678               2942 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens adrenoceptor alpha 1D (ADRA1D), mRNA.
ACCESSION   NM_000678
VERSION     NM_000678.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2942)
  AUTHORS   Wang J, Ning D, Xie D, Chen X, Cao X and Wan C.
  TITLE     Functional Involvement of ADRA1D in Cutaneous Melanoma Progression
            and Angiogenesis
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 69 (5), 44-50 (2023)
   PUBMED   37571902
  REMARK    GeneRIF: Functional Involvement of ADRA1D in Cutaneous Melanoma
            Progression and Angiogenesis. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2942)
  AUTHORS   Gao X, Enten GA, DeSantis AJ, Volkman BF, Gaponenko V and Majetschak
            M.
  TITLE     Characterization of heteromeric complexes between chemokine (C-X-C
            motif) receptor 4 and alpha1-adrenergic receptors utilizing
            intermolecular bioluminescence resonance energy transfer assays
  JOURNAL   Biochem Biophys Res Commun 528 (2), 368-375 (2020)
   PUBMED   32085899
  REMARK    GeneRIF: Characterization of heteromeric complexes between chemokine
            (C-X-C motif) receptor 4 and alpha1-adrenergic receptors utilizing
            intermolecular bioluminescence resonance energy transfer assays.
REFERENCE   3  (bases 1 to 2942)
  AUTHORS   Janezic EM, Lauer SM, Williams RG, Chungyoun M, Lee KS, Navaluna E,
            Lau HT, Ong SE and Hague C.
  TITLE     N-glycosylation of alpha1D-adrenergic receptor N-terminal domain is
            required for correct trafficking, function, and biogenesis
  JOURNAL   Sci Rep 10 (1), 7209 (2020)
   PUBMED   32350295
  REMARK    GeneRIF: N-glycosylation of alpha1D-adrenergic receptor N-terminal
            domain is required for correct trafficking, function, and
            biogenesis. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2942)
  AUTHORS   Carmona-Rosas G, Hernandez-Espinosa DA, Alcantara-Hernandez R,
            Alfonzo-Mendez MA and Garcia-Sainz JA.
  TITLE     Distinct phosphorylation sites/clusters in the carboxyl terminus
            regulate alpha1D-adrenergic receptor subcellular localization and
            signaling
  JOURNAL   Cell Signal 53, 374-389 (2019)
   PUBMED   30419287
  REMARK    GeneRIF: The roles of adrenoceptor alpha 1D phosphorylation
            sites/clusters were investigated. Carboxyl terminus phosphorylation
            seems to control receptor's membrane localization. Intracellular
            loop 3 mutation caused agonist-induced sustained ERK1/2 activation.
REFERENCE   5  (bases 1 to 2942)
  AUTHORS   Gao X, Albee LJ, Volkman BF, Gaponenko V and Majetschak M.
  TITLE     Asymmetrical ligand-induced cross-regulation of chemokine (C-X-C
            motif) receptor 4 by alpha1-adrenergic receptors at the heteromeric
            receptor complex
  JOURNAL   Sci Rep 8 (1), 2730 (2018)
   PUBMED   29426850
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2942)
  AUTHORS   Esbenshade TA, Hirasawa A, Tsujimoto G, Tanaka T, Yano J, Minneman
            KP and Murphy TJ.
  TITLE     Cloning of the human alpha 1d-adrenergic receptor and inducible
            expression of three human subtypes in SK-N-MC cells
  JOURNAL   Mol Pharmacol 47 (5), 977-985 (1995)
   PUBMED   7746284
REFERENCE   7  (bases 1 to 2942)
  AUTHORS   Schwinn DA, Johnston GI, Page SO, Mosley MJ, Wilson KH, Worman NP,
            Campbell S, Fidock MD, Furness LM, Parry-Smith DJ et al.
  TITLE     Cloning and pharmacological characterization of human alpha-1
            adrenergic receptors: sequence corrections and direct comparison
            with other species homologues
  JOURNAL   J Pharmacol Exp Ther 272 (1), 134-142 (1995)
   PUBMED   7815325
REFERENCE   8  (bases 1 to 2942)
  AUTHORS   Weinberg DH, Trivedi P, Tan CP, Mitra S, Perkins-Barrow A, Borkowski
            D, Strader CD and Bayne M.
  TITLE     Cloning, expression and characterization of human alpha adrenergic
            receptors alpha 1a, alpha 1b and alpha 1c
  JOURNAL   Biochem Biophys Res Commun 201 (3), 1296-1304 (1994)
   PUBMED   8024574
REFERENCE   9  (bases 1 to 2942)
  AUTHORS   Schwinn DA and Lomasney JW.
  TITLE     Pharmacologic characterization of cloned alpha 1-adrenoceptor
            subtypes: selective antagonists suggest the existence of a fourth
            subtype
  JOURNAL   Eur J Pharmacol 227 (4), 433-436 (1992)
   PUBMED   1359975
REFERENCE   10  (bases 1 to 2942)
  AUTHORS   Bruno JF, Whittaker J, Song JF and Berelowitz M.
  TITLE     Molecular cloning and sequencing of a cDNA encoding a human alpha 1A
            adrenergic receptor
  JOURNAL   Biochem Biophys Res Commun 179 (3), 1485-1490 (1991)
   PUBMED   1656955
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L31772.1, U03864.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2142680 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379453.6/ ENSP00000368766.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL357040.14, S70782.1, U03864.1
            and AL121675.36.
            On May 17, 2019 this sequence version replaced NM_000678.3.
            Summary: Alpha-1-adrenergic receptors (alpha-1-ARs) are members of
            the G protein-coupled receptor superfamily. They activate mitogenic
            responses and regulate growth and proliferation of many cells.
            There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of
            which signal through the Gq/11 family of G-proteins and different
            subtypes show different patterns of activation. This gene encodes
            alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic
            receptor gene, this gene comprises 2 exons and a single intron that
            interrupts the coding region. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2942
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..2942
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="adrenoceptor alpha 1D"
                     /db_xref="GeneID:146"
                     /db_xref="HGNC:HGNC:280"
                     /db_xref="MIM:104219"
     misc_feature    91..93
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="upstream in-frame stop codon"
     CDS             331..2049
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="adrenergic, alpha -1D-, receptor; adrenergic,
                     alpha-1A-, receptor; alpha-1D adrenoceptor; alpha-1D
                     adrenoreceptor; alpha-1A adrenergic receptor;
                     alpha-adrenergic receptor 1a"
                     /codon_start=1
                     /product="alpha-1D adrenergic receptor"
                     /protein_id="NP_000669.1"
                     /db_xref="CCDS:CCDS13079.1"
                     /db_xref="GeneID:146"
                     /db_xref="HGNC:HGNC:280"
                     /db_xref="MIM:104219"
                     /translation="MTFRDLLSVSFEGPRPDSSAGGSSAGGGGGSAGGAAPSEGPAVGG
                     VPGGAGGGGGVVGAGSGEDNRSSAGEPGSAGAGGDVNGTAAVGGLVVSAQGVGVGVFLA
                     AFILMAVAGNLLVILSVACNRHLQTVTNYFIVNLAVADLLLSATVLPFSATMEVLGFWA
                     FGRAFCDVWAAVDVLCCTASILSLCTISVDRYVGVRHSLKYPAIMTERKAAAILALLWV
                     VALVVSVGPLLGWKEPVPPDERFCGITEEAGYAVFSSVCSFYLPMAVIVVMYCRVYVVA
                     RSTTRSLEAGVKRERGKASEVVLRIHCRGAATGADGAHGMRSAKGHTFRSSLSVRLLKF
                     SREKKAAKTLAIVVGVFVLCWFPFFFVLPLGSLFPQLKPSEGVFKVIFWLGYFNSCVNP
                     LIYPCSSREFKRAFLRLLRCQCRRRRRRRPLWRVYGHHWRASTSGLRQDCAPSSGDAPP
                     GAPLALTALPDPDPEPPGTPEMQAPVASRRKPPSAFREWRLLGPFRRPTTQLRAKVSSL
                     SHKIRAGGAQRAEAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRETDI"
     misc_feature    331..561
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="propagated from UniProtKB/Swiss-Prot (P25100.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    523..525
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P25100.2); glycosylation site"
     misc_feature    574..576
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P25100.2); glycosylation site"
     misc_feature    616..693
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="propagated from UniProtKB/Swiss-Prot (P25100.2);
                     transmembrane region"
     misc_feature    730..807
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="propagated from UniProtKB/Swiss-Prot (P25100.2);
                     transmembrane region"
     misc_feature    838..906
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="propagated from UniProtKB/Swiss-Prot (P25100.2);
                     transmembrane region"
     misc_feature    970..1044
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="propagated from UniProtKB/Swiss-Prot (P25100.2);
                     transmembrane region"
     misc_feature    1084..1155
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="propagated from UniProtKB/Swiss-Prot (P25100.2);
                     transmembrane region"
     misc_feature    1375..1449
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="propagated from UniProtKB/Swiss-Prot (P25100.2);
                     transmembrane region"
     misc_feature    1471..1545
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="propagated from UniProtKB/Swiss-Prot (P25100.2);
                     transmembrane region"
     misc_feature    1660..1794
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="propagated from UniProtKB/Swiss-Prot (P25100.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2862..2867
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="hexamer: ATTAAA"
     polyA_site      2890
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="major polyA site"
     regulatory      2902..2907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
                     /note="hexamer: ACTAAA"
     polyA_site      2921
                     /gene="ADRA1D"
                     /gene_synonym="ADRA1; ADRA1A; ADRA1R; ALPHA1; DAR;
                     dJ779E11.2"
ORIGIN
        1 gggagcgccg cagtggccgc tgcctgcacc gcccggcccc ggagccgccg ctttgcccgc
       61 ttgccgggca cgctcagagc gccgcgcgcg tagcgggccc cggctcttcg gtgctactcc
      121 acggccggcc tcggggagcc cggccgccgc ccgggccagg cagctccgct ctcggacagc
      181 cgcgctccgc gtcacaggaa cttgggcagg accccgacgg gacccgtgcg cggagctgca
      241 tctggagccc cgcggctatg ccctgtgctc ccctccctgc cggccgctcg ttctgtgccc
      301 cggcccggcc accgacggcc gcgcgttgag atgactttcc gcgatctcct gagcgtcagt
      361 ttcgagggac cccgcccgga cagcagcgca gggggctcca gcgcgggcgg cggcgggggc
      421 agcgcgggcg gcgcggcccc ctcggagggc ccggcggtgg gcggcgtgcc ggggggcgcg
      481 ggcggcggcg gcggcgtggt gggcgcaggc agcggcgagg acaaccggag ctccgcgggg
      541 gagccgggga gcgcgggcgc gggcggcgac gtgaatggca cggcggccgt cgggggactg
      601 gtggtgagcg cgcagggcgt gggcgtgggc gtcttcctgg cagccttcat ccttatggcc
      661 gtggcaggta acctgcttgt catcctctca gtggcctgca accgccacct gcagaccgtc
      721 accaactatt tcatcgtgaa cctggccgtg gccgacctgc tgctgagcgc caccgtactg
      781 cccttctcgg ccaccatgga ggttctgggc ttctgggcct ttggccgcgc cttctgcgac
      841 gtatgggccg ccgtggacgt gctgtgctgc acggcctcca tcctcagcct ctgcaccatc
      901 tccgtggacc ggtacgtggg cgtgcgccac tcactcaagt acccagccat catgaccgag
      961 cgcaaggcgg ccgccatcct ggccctgctc tgggtcgtag ccctggtggt gtccgtaggg
     1021 cccctgctgg gctggaagga gcccgtgccc cctgacgagc gcttctgcgg tatcaccgag
     1081 gaggcgggct acgctgtctt ctcctccgtg tgctccttct acctgcccat ggcggtcatc
     1141 gtggtcatgt actgccgcgt gtacgtggtc gcgcgcagca ccacgcgcag cctcgaggcg
     1201 ggcgtcaagc gcgagcgagg caaggcctcc gaggtggtgc tgcgcatcca ctgtcgcggc
     1261 gcggccacgg gcgccgacgg ggcgcacggc atgcgcagcg ccaagggcca caccttccgc
     1321 agctcgctct ccgtgcgcct gctcaagttc tcccgtgaga agaaagcggc caagactctg
     1381 gccatcgtcg tgggtgtctt cgtgctctgc tggttccctt tcttctttgt cctgccgctc
     1441 ggctccttgt tcccgcagct gaagccatcg gagggcgtct tcaaggtcat cttctggctc
     1501 ggctacttca acagctgcgt gaacccgctc atctacccct gttccagccg cgagttcaag
     1561 cgcgccttcc tccgtctcct gcgctgccag tgccgtcgtc gccggcgccg ccgccctctc
     1621 tggcgtgtct acggccacca ctggcgggcc tccaccagcg gcctgcgcca ggactgcgcc
     1681 ccgagttcgg gcgacgcgcc ccccggagcg ccgctggccc tcaccgcgct ccccgacccc
     1741 gaccccgaac ccccaggcac gcccgagatg caggctccgg tcgccagccg tcgaaagcca
     1801 cccagcgcct tccgcgagtg gaggctgctg gggccgttcc ggagacccac gacccagctg
     1861 cgcgccaaag tctccagcct gtcgcacaag atccgcgccg ggggcgcgca gcgcgcagag
     1921 gcagcgtgcg cccagcgctc agaggtggag gctgtgtccc taggcgtccc acacgaggtg
     1981 gccgagggcg ccacctgcca ggcctacgaa ttggccgact acagcaacct acgggagacc
     2041 gatatttaag gaccccagag ctaggccgcg gagtgtgctg ggcttggggg taagggggac
     2101 cagagaggcg ggctggtgtt ctaagagccc ccgtgcaaat cggagacccg gaaactgatc
     2161 agggcagctg ctctgtgaca tccctgagga actgggcaga gcttgaggct ggagcccttg
     2221 aaaggtgaaa agtagtgggg ccccctgctg gactcaggtg cccagaactc ttttcttaga
     2281 agggagaggc tgcgggctcc gtggggcctt ttgctcccaa tccctatttg agaaacactg
     2341 ccccatcctc catgccctga accctgagta gacagcccca agcatggcca ggaaggcctg
     2401 cccctcctct tctgggaaat aggcacagaa gctttggccg gctaccccag tgcctccctt
     2461 agggaaaaag tcagtgggac cagggctcct cagtggacaa atttctcctt cttactgcca
     2521 actggaggaa cccagtggac ctaccaccac ccacaagctt tggtggcaga ttgtatagcc
     2581 gtcatacaag cctgctgtat ttatccatgg gcccgctgtc cgccacccag gctcctccgt
     2641 gcacacccca tcacctggcc cctacccctt attacttccc ctcaagggcc ttactgttta
     2701 cactctgtac atagctcatc gtgcctgtgc ccatcacttc ttgctgggat tccaagccac
     2761 caattggaga gctttatttg tcattttgag acatatttat tggtaagagt acttctattt
     2821 tgtccaagct gtgcaaactg tccctcttta gcccataacc cattaaaaaa aaaatacttt
     2881 ttcccctaaa gtctgtcaag aactaaaggc ccgcaacaga atagattggg tctacatttg
     2941 cc
//
LOCUS       NM_000679               2507 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens adrenoceptor alpha 1B (ADRA1B), mRNA.
ACCESSION   NM_000679
VERSION     NM_000679.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2507)
  AUTHORS   Renkhold L, Kollmann R, Inderwiedenstrasse L and Kienitz MC.
  TITLE     PKC-isoform specific regulation of receptor desensitization and
            KCNQ1/KCNE1 K+ channel activity by mutant alpha1B-adrenergic
            receptors
  JOURNAL   Cell Signal 91, 110228 (2022)
   PUBMED   34958868
  REMARK    GeneRIF: PKC-isoform specific regulation of receptor desensitization
            and KCNQ1/KCNE1 K(+) channel activity by mutant alpha1B-adrenergic
            receptors.
REFERENCE   2  (bases 1 to 2507)
  AUTHORS   Gao X, Enten GA, DeSantis AJ, Volkman BF, Gaponenko V and Majetschak
            M.
  TITLE     Characterization of heteromeric complexes between chemokine (C-X-C
            motif) receptor 4 and alpha1-adrenergic receptors utilizing
            intermolecular bioluminescence resonance energy transfer assays
  JOURNAL   Biochem Biophys Res Commun 528 (2), 368-375 (2020)
   PUBMED   32085899
  REMARK    GeneRIF: Characterization of heteromeric complexes between chemokine
            (C-X-C motif) receptor 4 and alpha1-adrenergic receptors utilizing
            intermolecular bioluminescence resonance energy transfer assays.
REFERENCE   3  (bases 1 to 2507)
  AUTHORS   Hernandez-Espinosa DA, Reyes-Cruz G and Garcia-Sainz JA.
  TITLE     Roles of the G protein-coupled receptor kinase 2 and Rab5 in
            alpha1B-adrenergic receptor function and internalization
  JOURNAL   Eur J Pharmacol 867, 172846 (2020)
   PUBMED   31811856
  REMARK    GeneRIF: Study data indicate that GRK2 and RAB5 play key roles in
            alpha1B-adrenergic receptor phosphorylation, internalization, and
            desensitization. The possibility that RAB5 might form part of a
            signaling complex is suggested, as well as that GDP-Rab5 might
            interfere with the ability of GRK2 to catalyze alpha1B-adrenergic
            receptor phosphorylation.
REFERENCE   4  (bases 1 to 2507)
  AUTHORS   Wijaya LK, Stumbles PA and Drummond PD.
  TITLE     Tumor necrosis factor alpha induces alpha1B-adrenergic receptor
            expression in keratinocytes
  JOURNAL   Cytokine 125, 154851 (2020)
   PUBMED   31520851
  REMARK    GeneRIF: Tumor necrosis factor alpha induces alpha1B-adrenergic
            receptor expression in keratinocytes.
REFERENCE   5  (bases 1 to 2507)
  AUTHORS   Ragnarsson L, Andersson A, Thomas WG and Lewis RJ.
  TITLE     Mutations in the NPxxY motif stabilize pharmacologically distinct
            conformational states of the alpha1B- and beta2-adrenoceptors
  JOURNAL   Sci Signal 12 (572) (2019)
   PUBMED   30862702
  REMARK    GeneRIF: Mutations in the NPxxY motif stabilize pharmacologically
            distinct conformational states of the alpha1B- and
            beta2-adrenoceptors. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2507)
  AUTHORS   Warrington JA and Bengtsson U.
  TITLE     High-resolution physical mapping of human 5q31-q33 using three
            methods: radiation hybrid mapping, interphase fluorescence in situ
            hybridization, and pulsed-field gel electrophoresis
  JOURNAL   Genomics 24 (2), 395-398 (1994)
   PUBMED   7698768
REFERENCE   7  (bases 1 to 2507)
  AUTHORS   Ramarao CS, Denker JM, Perez DM, Gaivin RJ, Riek RP and Graham RM.
  TITLE     Genomic organization and expression of the human alpha 1B-adrenergic
            receptor
  JOURNAL   J Biol Chem 267 (30), 21936-21945 (1992)
   PUBMED   1328250
REFERENCE   8  (bases 1 to 2507)
  AUTHORS   Allen LF, Lefkowitz RJ, Caron MG and Cotecchia S.
  TITLE     G-protein-coupled receptor genes as protooncogenes: constitutively
            activating mutation of the alpha 1B-adrenergic receptor enhances
            mitogenesis and tumorigenicity
  JOURNAL   Proc Natl Acad Sci U S A 88 (24), 11354-11358 (1991)
   PUBMED   1662393
REFERENCE   9  (bases 1 to 2507)
  AUTHORS   Lomasney JW, Cotecchia S, Lorenz W, Leung WY, Schwinn DA, Yang-Feng
            TL, Brownstein M, Lefkowitz RJ and Caron MG.
  TITLE     Molecular cloning and expression of the cDNA for the alpha
            1A-adrenergic receptor. The gene for which is located on human
            chromosome 5
  JOURNAL   J Biol Chem 266 (10), 6365-6369 (1991)
   PUBMED   1706716
REFERENCE   10  (bases 1 to 2507)
  AUTHORS   Yang-Feng TL, Xue FY, Zhong WW, Cotecchia S, Frielle T, Caron MG,
            Lefkowitz RJ and Francke U.
  TITLE     Chromosomal organization of adrenergic receptor genes
  JOURNAL   Proc Natl Acad Sci U S A 87 (4), 1516-1520 (1990)
   PUBMED   2154750
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U03865.1, BC136568.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000306675.5/ ENSP00000306662.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011343.3, U03865.1,
            BQ576306.1 and AC068657.6.
            On Nov 24, 2018 this sequence version replaced NM_000679.3.
            Summary: Alpha-1-adrenergic receptors (alpha-1-ARs) are members of
            the G protein-coupled receptor superfamily. They activate mitogenic
            responses and regulate growth and proliferation of many cells.
            There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of
            which signal through the Gq/11 family of G-proteins and different
            subtypes show different patterns of activation. This gene encodes
            alpha-1B-adrenergic receptor, which induces neoplastic
            transformation when transfected into NIH 3T3 fibroblasts and other
            cell lines. Thus, this normal cellular gene is identified as a
            protooncogene. This gene comprises 2 exons and a single large
            intron of at least 20 kb that interrupts the coding region.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2507
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.3"
     gene            1..2507
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="adrenoceptor alpha 1B"
                     /db_xref="GeneID:147"
                     /db_xref="HGNC:HGNC:278"
                     /db_xref="MIM:104220"
     misc_feature    293..295
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="upstream in-frame stop codon"
     CDS             425..1987
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="alpha-1B adrenoceptor; alpha-1B adrenoreceptor;
                     adrenergic, alpha-1B-, receptor"
                     /codon_start=1
                     /product="alpha-1B adrenergic receptor"
                     /protein_id="NP_000670.1"
                     /db_xref="CCDS:CCDS4347.1"
                     /db_xref="GeneID:147"
                     /db_xref="HGNC:HGNC:278"
                     /db_xref="MIM:104220"
                     /translation="MNPDLDTGHNTSAPAHWGELKNANFTGPNQTSSNSTLPQLDITRA
                     ISVGLVLGAFILFAIVGNILVILSVACNRHLRTPTNYFIVNLAMADLLLSFTVLPFSAA
                     LEVLGYWVLGRIFCDIWAAVDVLCCTASILSLCAISIDRYIGVRYSLQYPTLVTRRKAI
                     LALLSVWVLSTVISIGPLLGWKEPAPNDDKECGVTEEPFYALFSSLGSFYIPLAVILVM
                     YCRVYIVAKRTTKNLEAGVMKEMSNSKELTLRIHSKNFHEDTLSSTKAKGHNPRSSIAV
                     KLFKFSREKKAAKTLGIVVGMFILCWLPFFIALPLGSLFSTLKPPDAVFKVVFWLGYFN
                     SCLNPIIYPCSSKEFKRAFVRILGCQCRGRGRRRRRRRRRLGGCAYTYRPWTRGGSLER
                     SQSRKDSLDDSGSCLSGSQRTLPSASPSPGYLGRGAPPPVELCAFPEWKAPGALLSLPA
                     PEPPGRRGRHDSGPLFTFKLLTEPESPGTDGGASNGGCEAAADVANGQPGFKSNMPLAP
                     GQF"
     misc_feature    452..454
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35368.3); glycosylation site"
     misc_feature    494..496
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35368.3); glycosylation site"
     misc_feature    509..511
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35368.3); glycosylation site"
     misc_feature    524..526
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35368.3); glycosylation site"
     misc_feature    560..634
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35368.3);
                     transmembrane region"
     misc_feature    674..739
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35368.3);
                     transmembrane region"
     misc_feature    770..847
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35368.3);
                     transmembrane region"
     misc_feature    908..976
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35368.3);
                     transmembrane region"
     misc_feature    1028..1096
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35368.3);
                     transmembrane region"
     misc_feature    1214..1216
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P97717; propagated from
                     UniProtKB/Swiss-Prot (P35368.3); phosphorylation site"
     misc_feature    1310..1381
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35368.3);
                     transmembrane region"
     misc_feature    1403..1477
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35368.3);
                     transmembrane region"
     misc_feature    1526..1564
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35368.3);
                     Region: Nuclear localization signal"
     misc_feature    1604..1720
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35368.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1859..1984
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35368.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2486..2491
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="hexamer: ATTAAA"
     polyA_site      2507
                     /gene="ADRA1B"
                     /gene_synonym="ADRA1; ALPHA1BAR"
                     /note="major polyA site"
ORIGIN
        1 agtcagccca gaagcggctc attgaaagca gaccctcttc ggcgctcgct gggcggagga
       61 cgcgccgcgg tccgcagacc cgagcgagct gggcaccgcc gggcgccccc ggccctgccg
      121 ccccctcctc cccgccgctc ccccgcgagc ccggccaggc gcgcctgacg tggaccatta
      181 aacttggagc tgccgcctcg tcccctctcc tcctcctcct ccctctgaca ggcgagcgag
      241 cgactcggtg caggcaggag acgtgctgcc gggctgggct gcccggggga gatgactcct
      301 cgccaggagg gcgcctctgg gaagaagacc acgggggaag caaagtttca gggcagctga
      361 ggagccttcg ccgcagccct tccgagccca atcatccccc tggctatgga gggcggactc
      421 taagatgaat cccgacctgg acaccggcca caacacatca gcacctgccc actggggaga
      481 gttgaaaaat gccaacttca ctggccccaa ccagacctcg agcaactcca cactgcccca
      541 gctggacatc accagggcca tctctgtggg cctggtgctg ggcgccttca tcctctttgc
      601 catcgtgggc aacatcctag tcatcttgtc tgtggcctgc aaccggcacc tgcggacgcc
      661 caccaactac ttcattgtca acctggccat ggccgacctg ctgttgagct tcaccgtcct
      721 gcccttctca gcggccctag aggtgctcgg ctactgggtg ctggggcgga tcttctgtga
      781 catctgggca gccgtggatg tcctgtgctg cacagcgtcc attctgagcc tgtgcgccat
      841 ctccatcgat cgctacatcg gggtgcgcta ctctctgcag tatcccacgc tggtcacccg
      901 gaggaaggcc atcttggcgc tgctcagtgt ctgggtcttg tccaccgtca tctccatcgg
      961 gcctctcctt gggtggaagg agccggcacc caacgatgac aaggagtgcg gggtcaccga
     1021 agaacccttc tatgccctct tctcctctct gggctccttc tacatccctc tggcggtcat
     1081 tctagtcatg tactgccgtg tctatatagt ggccaagaga accaccaaga acctagaggc
     1141 aggagtcatg aaggagatgt ccaactccaa ggagctgacc ctgaggatcc attccaagaa
     1201 ctttcacgag gacaccctta gcagtaccaa ggccaagggc cacaacccca ggagttccat
     1261 agctgtcaaa ctttttaagt tctccaggga aaagaaagca gctaagacgt tgggcattgt
     1321 ggtcggtatg ttcatcttgt gctggctacc cttcttcatc gctctaccgc ttggctcctt
     1381 gttctccacc ctgaagcccc ccgacgccgt gttcaaggtg gtgttctggc tgggctactt
     1441 caacagctgc ctcaacccca tcatctaccc atgctccagc aaggagttca agcgcgcttt
     1501 cgtgcgcatc ctcgggtgcc agtgccgcgg ccgcggccgc cgccgacgcc gccgccgccg
     1561 tcgcctgggc ggctgcgcct acacctaccg gccgtggacg cgcggcggct cgctggagcg
     1621 ctcgcagtcg cgcaaggact cgctggacga cagcggcagc tgcctgagcg gcagccagcg
     1681 gaccctgccc tcggcctcgc cgagcccggg ctacctgggc cgcggcgcgc caccgccagt
     1741 cgagctgtgc gccttccccg agtggaaggc gcccggcgcc ctcctgagcc tgcccgcgcc
     1801 tgagcccccc ggccgccgcg gccgccacga ctcgggcccg ctcttcacct tcaagctcct
     1861 gaccgagccc gagagccccg ggaccgacgg cggcgccagc aacggaggct gcgaggccgc
     1921 ggccgacgtg gccaacgggc agccgggctt caaaagcaac atgcccctgg cgcccgggca
     1981 gttttagggc ccccgtgcgc agctttcttt ccctggggag gaaaacatcg tgggggggag
     2041 gggagggcgg ggcggagggg ggaggggagc gtccacgccg ggtagacgcg cgccccaagg
     2101 ggaaccgggg ggagggccgg ggagaggggc agctgctttt ctggcagggg catgggtgcc
     2161 aggtaccacg cggaaagccg ggccgagcat gctgagagcc tgggggaccc gacgccgccg
     2221 ggatttacct ctctctctcc ctctgtgtat atataaacga gtccctctct acttgtattt
     2281 aaccgtgggt gcacgtgagt gtgactgtgc ggtgtgcgtg tgttccgctt gtgtgtgtgc
     2341 gtggggccgc cctgtgaggg cgcggcgact gtgcgcccag gaggcaaccg ggggcgttgt
     2401 gtgtgtcgtg acttcgtacc tctcaagccc ctccttgtac ttcactgaag gatggcactt
     2461 tggtggggtt ggaaacaaag tcgacattaa aggtcatttc tcctgtt
//
LOCUS       NM_000680               3770 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens adrenoceptor alpha 1A (ADRA1A), transcript variant 1,
            mRNA.
ACCESSION   NM_000680
VERSION     NM_000680.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3770)
  AUTHORS   Chechekhin V, Ivanova A, Kulebyakin K, Sysoeva V, Naida D, Arbatsky
            M, Basalova N, Karagyaur M, Skryabina M, Efimenko A, Grigorieva O,
            Kalinina N, Tkachuk V and Tyurin-Kuzmin P.
  TITLE     Alpha1A- and Beta3-Adrenoceptors Interplay in Adipose Multipotent
            Mesenchymal Stromal Cells: A Novel Mechanism of Obesity-Driven
            Hypertension
  JOURNAL   Cells 12 (4), 585 (2023)
   PUBMED   36831252
  REMARK    GeneRIF: Alpha1A- and Beta3-Adrenoceptors Interplay in Adipose
            Multipotent Mesenchymal Stromal Cells: A Novel Mechanism of
            Obesity-Driven Hypertension. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3770)
  AUTHORS   Zhang J, Fu X, Lu Y, Cheng C, Wang K, Zhu Y and Xie Q.
  TITLE     Hypermethylation in the promoter region of the ADRA1A gene is
            associated with opioid use disorder in Han Chinese
  JOURNAL   Brain Res 1793, 148050 (2022)
   PUBMED   35964682
  REMARK    GeneRIF: Hypermethylation in the promoter region of the ADRA1A gene
            is associated with opioid use disorder in Han Chinese.
REFERENCE   3  (bases 1 to 3770)
  AUTHORS   Baranova T, Podyacheva E, Zemlyanukhina T, Berlov D, Danilova M,
            Glotov O and Glotov A.
  TITLE     Vascular Reactions of the Diving Reflex in Men and Women Carrying
            Different ADRA1A Genotypes
  JOURNAL   Int J Mol Sci 23 (16), 9433 (2022)
   PUBMED   36012699
  REMARK    GeneRIF: Vascular Reactions of the Diving Reflex in Men and Women
            Carrying Different ADRA1A Genotypes. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3770)
  AUTHORS   Zhao W and Liu X.
  TITLE     MiR-3682 promotes the progression of hepatocellular carcinoma (HCC)
            via inactivating AMPK signaling by targeting ADRA1A
  JOURNAL   Ann Hepatol 27 Suppl 1, 100570 (2022)
   PUBMED   34706275
  REMARK    GeneRIF: MiR-3682 promotes the progression of hepatocellular
            carcinoma (HCC) via inactivating AMPK signaling by targeting ADRA1A.
REFERENCE   5  (bases 1 to 3770)
  AUTHORS   Chiu YH, Medina CB, Doyle CA, Zhou M, Narahari AK, Sandilos JK,
            Gonye EC, Gao HY, Guo SY, Parlak M, Lorenz UM, Conrads TP, Desai BN,
            Ravichandran KS and Bayliss DA.
  TITLE     Deacetylation as a receptor-regulated direct activation switch for
            pannexin channels
  JOURNAL   Nat Commun 12 (1), 4482 (2021)
   PUBMED   34301959
  REMARK    GeneRIF: Deacetylation as a receptor-regulated direct activation
            switch for pannexin channels. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3770)
  AUTHORS   Coge F, Guenin SP, Renouard-Try A, Rique H, Ouvry C, Fabry N,
            Beauverger P, Nicolas JP, Galizzi JP, Boutin JA and Canet E.
  TITLE     Truncated isoforms inhibit [3H]prazosin binding and cellular
            trafficking of native human alpha1A-adrenoceptors
  JOURNAL   Biochem J 343 Pt 1 (Pt 1), 231-239 (1999)
   PUBMED   10493934
REFERENCE   7  (bases 1 to 3770)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH,
            Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   8  (bases 1 to 3770)
  AUTHORS   Hirasawa A, Shibata K, Horie K, Takei Y, Obika K, Tanaka T, Muramoto
            N, Takagaki K, Yano J and Tsujimoto G.
  TITLE     Cloning, functional expression and tissue distribution of human
            alpha 1c-adrenoceptor splice variants
  JOURNAL   FEBS Lett 363 (3), 256-260 (1995)
   PUBMED   7737411
REFERENCE   9  (bases 1 to 3770)
  AUTHORS   Hoehe MR, Berrettini WH, Schwinn DA and Hsieh WT.
  TITLE     A two-allele PstI RFLP for the alpha-1C adrenergic receptor gene
            (ADRA1C)
  JOURNAL   Hum Mol Genet 1 (5), 349 (1992)
   PUBMED   1363873
REFERENCE   10  (bases 1 to 3770)
  AUTHORS   Schwinn DA, Lomasney JW, Lorenz W, Szklut PJ, Fremeau RT Jr,
            Yang-Feng TL, Caron MG, Lefkowitz RJ and Cotecchia S.
  TITLE     Molecular cloning and expression of the cDNA for a novel alpha
            1-adrenergic receptor subtype
  JOURNAL   J Biol Chem 265 (14), 8183-8189 (1990)
   PUBMED   1970822
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.45753.1,
            SRR1803613.221112.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380573.4/ ENSP00000369947.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022839.8, AK289548.1,
            AK311558.1, D25235.1, AC091675.5, HY277084.1, BF475837.1 and
            AA383170.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000680.3.
            Summary: Alpha-1-adrenergic receptors (alpha-1-ARs) are members of
            the G protein-coupled receptor superfamily. They activate mitogenic
            responses and regulate growth and proliferation of many cells.
            There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of
            which signal through the Gq/11 family of G-proteins and different
            subtypes show different patterns of activation. This gene encodes
            alpha-1A-adrenergic receptor. Alternative splicing of this gene
            generates four transcript variants, which encode four different
            isoforms with distinct C-termini but having similar ligand binding
            properties. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) is alternatively spliced in
            the 3' end, compared to variant 3. It encodes isoform 1, which has
            a longer and distinct C-terminus compared to isoform 3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..3770
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.2"
     gene            1..3770
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /note="adrenoceptor alpha 1A"
                     /db_xref="GeneID:148"
                     /db_xref="HGNC:HGNC:277"
                     /db_xref="MIM:104221"
     misc_feature    943..945
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /note="upstream in-frame stop codon"
     CDS             1030..2430
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /note="isoform 1 is encoded by transcript variant 1; G
                     protein coupled receptor; alpha-1A adrenoceptor; alpha-1A
                     adrenoreceptor; alpha-1C adrenergic receptor"
                     /codon_start=1
                     /product="alpha-1A adrenergic receptor isoform 1"
                     /protein_id="NP_000671.2"
                     /db_xref="CCDS:CCDS6054.1"
                     /db_xref="GeneID:148"
                     /db_xref="HGNC:HGNC:277"
                     /db_xref="MIM:104221"
                     /translation="MVFLSGNASDSSNCTQPPAPVNISKAILLGVILGGLILFGVLGNI
                     LVILSVACHRHLHSVTHYYIVNLAVADLLLTSTVLPFSAIFEVLGYWAFGRVFCNIWAA
                     VDVLCCTASIMGLCIISIDRYIGVSYPLRYPTIVTQRRGLMALLCVWALSLVISIGPLF
                     GWRQPAPEDETICQINEEPGYVLFSALGSFYLPLAIILVMYCRVYVVAKRESRGLKSGL
                     KTDKSDSEQVTLRIHRKNAPAGGSGMASAKTKTHFSVRLLKFSREKKAAKTLGIVVGCF
                     VLCWLPFFLVMPIGSFFPDFKPSETVFKIVFWLGYLNSCINPIIYPCSSQEFKKAFQNV
                     LRIQCLCRKQSSKHALGYTLHPPSQAVEGQHKDMVRIPVGSRETFYRISKTDGVCEWKF
                     FSSMPRGSARITVSKDQSSCTTARVRSKSFLQVCCCVGPSTPSLDKNHQVPTIKVHTIS
                     LSENGEEV"
     misc_feature    1048..1050
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35348.2); glycosylation site"
     misc_feature    1066..1068
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35348.2); glycosylation site"
     misc_feature    1093..1095
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35348.2); glycosylation site"
     misc_feature    1111..1182
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35348.2);
                     transmembrane region"
     misc_feature    1222..1293
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35348.2);
                     transmembrane region"
     misc_feature    1327..1395
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35348.2);
                     transmembrane region"
     misc_feature    1459..1530
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35348.2);
                     transmembrane region"
     misc_feature    1573..1644
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35348.2);
                     transmembrane region"
     misc_feature    1672..1674
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /note="Phosphoserine, by PKA. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P35348.2);
                     phosphorylation site"
     misc_feature    1849..1920
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35348.2);
                     transmembrane region"
     misc_feature    1945..2016
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35348.2);
                     transmembrane region"
     misc_feature    2029..2076
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P35348.2);
                     Region: Nuclear localization signal"
     polyA_site      3770
                     /gene="ADRA1A"
                     /gene_synonym="ADRA1C; ADRA1L1; ALPHA1AAR"
                     /note="major polyA site"
ORIGIN
        1 gagttacgtc agcgagagct gcaaagttcc ttgctattct tttctggtgt cggggagctg
       61 aatattaaaa gggtgattgt ggagttaccg gttatctgca tttttttttc ttttcttatt
      121 ttgactcttt ttaaaaaatg caggtaaagt gacagcggtt caggagctta aagacatcag
      181 tggtggaggg gtgagtcagc gggtgcaaaa ggacaaggat ttggtgcctc ggagacacgg
      241 tcccctctcc gcctccagag aagagcaggc aggcagctcc cgggaccgaa gccgggtcca
      301 catcccccgc gcgcgagctg gtggctcagc agcggcgctt caggtggacg cggtcaaacg
      361 atgccccgca gcctcctggg tctcagcaca tattccacac ctacgtcccc tgacctgtgc
      421 tcctagaagc tggagagagc aggagccttc ggtggggcag ctcaaaatgt aggtaactgc
      481 gggccaggag cagcgcccaa cctgtagcgc tgcgctaccc aaccatcggt ccctgccttt
      541 gagcgtcgac ggctgatctt ttggtttgag ggagagactg gcgctggagt tttgaattcc
      601 gaatcatgtg cagaatgctg aatcttcccc cagccaggac gaataagaca gcgcggaaaa
      661 gcagattctc gtaattctgg aattgcatgt tgcaaggagt ctcctggatc ttcgcaccca
      721 gcttcgggta gggagggagt ccgggtcccg ggctaggcca gcccggcagg tggagagggt
      781 ccccggcagc cccgcgcgcc cctggccatg tctttaatgc cctgcccctt catgtggcct
      841 tctgagggtt cccagggctg gccagggttg tttcccaccc gcgcgcgcgc tctcaccccc
      901 agccaaaccc acctggcagg gctccctcca gccgagacct tttgattccc ggctcccgcg
      961 ctcccgcctc cgcgccagcc cgggaggtgg ccctggacag ccggacctcg cccggccccg
     1021 gctgggacca tggtgtttct ctcgggaaat gcttccgaca gctccaactg cacccaaccg
     1081 ccggcaccgg tgaacatttc caaggccatt ctgctcgggg tgatcttggg gggcctcatt
     1141 cttttcgggg tgctgggtaa catcctagtg atcctctccg tagcctgtca ccgacacctg
     1201 cactcagtca cgcactacta catcgtcaac ctggcggtgg ccgacctcct gctcacctcc
     1261 acggtgctgc ccttctccgc catcttcgag gtcctaggct actgggcctt cggcagggtc
     1321 ttctgcaaca tctgggcggc agtggatgtg ctgtgctgca ccgcgtccat catgggcctc
     1381 tgcatcatct ccatcgaccg ctacatcggc gtgagctacc cgctgcgcta cccaaccatc
     1441 gtcacccaga ggaggggtct catggctctg ctctgcgtct gggcactctc cctggtcata
     1501 tccattggac ccctgttcgg ctggaggcag ccggcccccg aggacgagac catctgccag
     1561 atcaacgagg agccgggcta cgtgctcttc tcagcgctgg gctccttcta cctgcctctg
     1621 gccatcatcc tggtcatgta ctgccgcgtc tacgtggtgg ccaagaggga gagccggggc
     1681 ctcaagtctg gcctcaagac cgacaagtcg gactcggagc aagtgacgct ccgcatccat
     1741 cggaaaaacg ccccggcagg aggcagcggg atggccagcg ccaagaccaa gacgcacttc
     1801 tcagtgaggc tcctcaagtt ctcccgggag aagaaagcgg ccaaaacgct gggcatcgtg
     1861 gtcggctgct tcgtcctctg ctggctgcct tttttcttag tcatgcccat tgggtctttc
     1921 ttccctgatt tcaagccctc tgaaacagtt tttaaaatag tattttggct cggatatcta
     1981 aacagctgca tcaaccccat catataccca tgctccagcc aagagttcaa aaaggccttt
     2041 cagaatgtct tgagaatcca gtgtctctgc agaaagcagt cttccaaaca tgccctgggc
     2101 tacaccctgc acccgcccag ccaggccgtg gaagggcaac acaaggacat ggtgcgcatc
     2161 cccgtgggat caagagagac cttctacagg atctccaaga cggatggcgt ttgtgaatgg
     2221 aaatttttct cttccatgcc ccgtggatct gccaggatta cagtgtccaa agaccaatcc
     2281 tcctgtacca cagcccgggt gagaagtaaa agctttttgc aggtctgctg ctgtgtaggg
     2341 ccctcaaccc ccagccttga caagaaccat caagttccaa ccattaaggt ccacaccatc
     2401 tccctcagtg agaacgggga ggaagtctag gacaggaaag atgcagagga aaggggaata
     2461 atcttaggta cccaccccac ttccttctcg gaaggccagc tcttcttgga ggacaagaca
     2521 ggaccaatca aagaggggac ctgctgggaa tggggtgggt ggtagaccca actcatcagg
     2581 cagcgggtag ggcacaggga agagggaggg tgtctcacaa ccaaccagtt cagaatgata
     2641 cggaacagca tttccctgca gctaatgctt tcttggtcac tctgtgccca cttcaacgaa
     2701 aaccaccatg ggaaacagaa tttcatgcac aatccaaaag actataaata taggattatg
     2761 atttcatcat gaatattttg agcacacact ctaagtttgg agctatttct tgatggaagt
     2821 gaggggattt tattttcagg ctcaacctac tgacagccac atttgacatt tatggggaga
     2881 gggcctagag aggaagagca ttaagatggt ggccgagatc cagacacatt atttttagag
     2941 caagtcctga aactccaccc tttctgatac atccaatttc tcagcttgag ggaaacttgg
     3001 cagtgaggtt tacctttgac tgcactttga atggatgctg ctcctcattt cccaaagatg
     3061 agagtgaggg gcactcatga tgtcttggaa tgtagtgttc tctatccttg ggtcaggaga
     3121 gggttgaaag aaccaaccag ggtggtatgg cttttcccaa gagaaaacaa tagacctgag
     3181 catcattctt tcaatttaac tactagagag aaaatccatt aaacagttcc aagatcagat
     3241 gatgataggc tttctctcta atatctttaa agagcaagag gttggtgtgg ctgttaattt
     3301 cttgcaaaga tagaggctgt tcacttactg cacagccatt tcaacatggc ttacaaaagc
     3361 ctttcttgac aaatcactta cctgttccag aactctgtta tgaaaatcca gagcttataa
     3421 tattttgaaa ggcaaaagat tgtctcccat tacttcttat ctgcttcact attgcataat
     3481 gaatgagctt cacctgtggc atgttggaat gagccttatg atccaagtac attattcccg
     3541 aactttgaaa aatactaatg cttagcttca gacaatactg atggatcacc aaagaactgt
     3601 ctaacgcagg agtttgcaaa cattttttga tagaaggcca tttgttctgg taaaagatcc
     3661 agtagtcaac tcaacttcat ctattcctac ttttctgcaa gagcttgggg aacatgctat
     3721 attttgcttt atgtatacca aattttggta aaccataata actcagtaca
//
LOCUS       NM_000681               3879 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens adrenoceptor alpha 2A (ADRA2A), mRNA.
ACCESSION   NM_000681
VERSION     NM_000681.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3879)
  AUTHORS   Chen Y, Cao H, Pan N, Long Y, Zhou J, Zhou C, Wang Y and Gong Q.
  TITLE     The alpha-2A-adrenergic receptor gene polymorphism modulates gray
            matter structural networks, visual memory, and inhibitory cognitive
            control in children with attention deficit/hyperactivity disorder
  JOURNAL   Cereb Cortex 33 (14), 9088-9094 (2023)
   PUBMED   37310179
  REMARK    GeneRIF: The alpha-2A-adrenergic receptor gene polymorphism
            modulates gray matter structural networks, visual memory, and
            inhibitory cognitive control in children with attention
            deficit/hyperactivity disorder.
REFERENCE   2  (bases 1 to 3879)
  AUTHORS   Gallaway KA, Skaar TC, Biju A, Slaven J and Tillman EM.
  TITLE     A pilot study of ADRA2A genotype association with doses of
            dexmedetomidine for sedation in pediatric patients
  JOURNAL   Pharmacotherapy 42 (6), 453-459 (2022)
   PUBMED   35429176
  REMARK    GeneRIF: A pilot study of ADRA2A genotype association with doses of
            dexmedetomidine for sedation in pediatric patients.
REFERENCE   3  (bases 1 to 3879)
  AUTHORS   Sandrini L, Amadio P, Ieraci A, Malara A, Werba JP, Soprano PM,
            Balduini A, Zara M, Bonomi A, Veglia F, Colombo GI, Popoli M, Lee
            FS, Tremoli E and Barbieri SS.
  TITLE     The alpha2-adrenergic receptor pathway modulating depression
            influences the risk of arterial thrombosis associated with
            BDNFVal66Met polymorphism
  JOURNAL   Biomed Pharmacother 146, 112557 (2022)
   PUBMED   34965503
  REMARK    GeneRIF: The alpha2-adrenergic receptor pathway modulating
            depression influences the risk of arterial thrombosis associated
            with BDNFVal66Met polymorphism.
REFERENCE   4  (bases 1 to 3879)
  AUTHORS   Handy DE and Gavras H.
  TITLE     Promoter region of the human alpha 2A adrenergic receptor gene
  JOURNAL   J Biol Chem 267 (33), 24017-24022 (1992)
   PUBMED   1385431
REFERENCE   5  (bases 1 to 3879)
  AUTHORS   Perala M, Hirvonen H, Kalimo H, Ala-Uotila S, Regan JW, Akerman KE
            and Scheinin M.
  TITLE     Differential expression of two alpha 2-adrenergic receptor subtype
            mRNAs in human tissues
  JOURNAL   Brain Res Mol Brain Res 16 (1-2), 57-63 (1992)
   PUBMED   1334200
REFERENCE   6  (bases 1 to 3879)
  AUTHORS   Surprenant A, Horstman DA, Akbarali H and Limbird LE.
  TITLE     A point mutation of the alpha 2-adrenoceptor that blocks coupling to
            potassium but not calcium currents
  JOURNAL   Science 257 (5072), 977-980 (1992)
   PUBMED   1354394
REFERENCE   7  (bases 1 to 3879)
  AUTHORS   Suryanarayana S, Daunt DA, Von Zastrow M and Kobilka BK.
  TITLE     A point mutation in the seventh hydrophobic domain of the alpha 2
            adrenergic receptor increases its affinity for a family of beta
            receptor antagonists
  JOURNAL   J Biol Chem 266 (23), 15488-15492 (1991)
   PUBMED   1678390
REFERENCE   8  (bases 1 to 3879)
  AUTHORS   Wang CD, Buck MA and Fraser CM.
  TITLE     Site-directed mutagenesis of alpha 2A-adrenergic receptors:
            identification of amino acids involved in ligand binding and
            receptor activation by agonists
  JOURNAL   Mol Pharmacol 40 (2), 168-179 (1991)
   PUBMED   1678850
REFERENCE   9  (bases 1 to 3879)
  AUTHORS   Fraser CM, Arakawa S, McCombie WR and Venter JC.
  TITLE     Cloning, sequence analysis, and permanent expression of a human
            alpha 2-adrenergic receptor in Chinese hamster ovary cells. Evidence
            for independent pathways of receptor coupling to adenylate cyclase
            attenuation and activation
  JOURNAL   J Biol Chem 264 (20), 11754-11761 (1989)
   PUBMED   2568356
REFERENCE   10  (bases 1 to 3879)
  AUTHORS   Kobilka BK, Matsui H, Kobilka TS, Yang-Feng TL, Francke U, Caron MG,
            Lefkowitz RJ and Regan JW.
  TITLE     Cloning, sequencing, and expression of the gene coding for the human
            platelet alpha 2-adrenergic receptor
  JOURNAL   Science 238 (4827), 650-656 (1987)
   PUBMED   2823383
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AF284095.1, BC050414.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000280155.4/ ENSP00000280155.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL158163.11, AF284095.1 and
            BM682651.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000681.3.
            Summary: Alpha-2-adrenergic receptors are members of the G
            protein-coupled receptor superfamily. The alpha-2-adrenergic
            receptors are a type of adrenergic receptors (for adrenaline or
            epinephrine), which inhibit adenylate cyclase. These receptors
            include 3 highly homologous subtypes: alpha2A, alpha2B, and
            alpha2C. They are involved in regulating the release of
            neurotransmitter molecules from sympathetic nerves and from
            adrenergic neurons in the central nervous system. The sympathetic
            nervous system regulates cardiovascular function by activating
            adrenergic receptors in the heart, blood vessels and kidney.
            Studies in mouse revealed that both the alpha2A and alpha2C
            receptor subtypes were required for presynaptic transmitter release
            from the sympathetic nervous system in the heart and from central
            noradrenergic neurons. The alpha-2-adrenergic receptors are also
            involved in catecholamine signaling by extracellular regulated
            protein kinase 1 and 2 (ERK1/2) pathways. A clear association
            between the alpha-2-adrenergic receptor and disease has not been
            yet established. [provided by RefSeq, Sep 2019].
            Sequence Note: The 5'-most in-frame translation initiation codon is
            selected for this RefSeq based on good conservation across
            mammalian species. A possible downstream start codon would result
            in a protein that is 15 aa shorter at the N-terminus. The
            literature, including PMIDs:2823383, 2568356, 1354394 and 1678390,
            assumes the use of the downstream start codon based on initial
            cloning reports, but there is no experimental evidence indicating
            which start codon is preferentially used in vivo.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3879
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.2"
     gene            1..3879
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="adrenoceptor alpha 2A"
                     /db_xref="GeneID:150"
                     /db_xref="HGNC:HGNC:281"
                     /db_xref="MIM:104210"
     misc_feature    864..866
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="upstream in-frame stop codon"
     CDS             969..2366
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="alpha-2AAR subtype C10; alpha-2-adrenergic receptor,
                     platelet type; alpha-2A adrenoceptor; alpha-2A
                     adrenoreceptor; alpha-2 adrenergic receptor subtype C10;
                     adrenergic, alpha-2A-, receptor"
                     /codon_start=1
                     /product="alpha-2A adrenergic receptor"
                     /protein_id="NP_000672.3"
                     /db_xref="CCDS:CCDS7569.2"
                     /db_xref="GeneID:150"
                     /db_xref="HGNC:HGNC:281"
                     /db_xref="MIM:104210"
                     /translation="MFRQEQPLAEGSFAPMGSLQPDAGNASWNGTEAPGGGARATPYSL
                     QVTLTLVCLAGLLMLLTVFGNVLVIIAVFTSRALKAPQNLFLVSLASADILVATLVIPF
                     SLANEVMGYWYFGKAWCEIYLALDVLFCTSSIVHLCAISLDRYWSITQAIEYNLKRTPR
                     RIKAIIITVWVISAVISFPPLISIEKKGGGGGPQPAEPRCEINDQKWYVISSCIGSFFA
                     PCLIMILVYVRIYQIAKRRTRVPPSRRGPDAVAAPPGGTERRPNGLGPERSAGPGGAEA
                     EPLPTQLNGAPGEPAPAGPRDTDALDLEESSSSDHAERPPGPRRPERGPRGKGKARASQ
                     VKPGDSLPRRGPGATGIGTPAAGPGEERVGAAKASRWRGRQNREKRFTFVLAVVIGVFV
                     VCWFPFFFTYTLTAVGCSVPRTLFKFFFWFGYCNSSLNPVIYTIFNHDFRRAFKKILCR
                     GDRKRIV"
     misc_feature    1014..1016
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="Region: alternative translation initiation codon"
     misc_feature    1041..1043
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08913.4); glycosylation site"
     misc_feature    1053..1055
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08913.4); glycosylation site"
     misc_feature    1113..1190
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="propagated from UniProtKB/Swiss-Prot (P08913.4);
                     transmembrane region"
     misc_feature    1224..1301
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="propagated from UniProtKB/Swiss-Prot (P08913.4);
                     transmembrane region"
     misc_feature    1332..1400
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="propagated from UniProtKB/Swiss-Prot (P08913.4);
                     transmembrane region"
     misc_feature    1350..1352
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="Implicated in ligand binding; propagated from
                     UniProtKB/Swiss-Prot (P08913.4); other site"
     misc_feature    1467..1529
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="propagated from UniProtKB/Swiss-Prot (P08913.4);
                     transmembrane region"
     misc_feature    1596..1664
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="propagated from UniProtKB/Swiss-Prot (P08913.4);
                     transmembrane region"
     misc_feature    1611..1613
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="Implicated in catechol agonist binding and receptor
                     activation; propagated from UniProtKB/Swiss-Prot
                     (P08913.4); other site"
     misc_feature    1623..1625
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="Implicated in catechol agonist binding and receptor
                     activation; propagated from UniProtKB/Swiss-Prot
                     (P08913.4); other site"
     misc_feature    1692..2072
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="propagated from UniProtKB/Swiss-Prot (P08913.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2004..2006
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P22909; propagated from
                     UniProtKB/Swiss-Prot (P08913.4); phosphorylation site"
     misc_feature    2070..2072
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q01338; propagated from
                     UniProtKB/Swiss-Prot (P08913.4); methylation site"
     misc_feature    2136..2198
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="propagated from UniProtKB/Swiss-Prot (P08913.4);
                     transmembrane region"
     misc_feature    2241..2300
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="propagated from UniProtKB/Swiss-Prot (P08913.4);
                     transmembrane region"
     regulatory      3735..3740
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="hexamer: AATAAA"
     regulatory      3763..3768
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="hexamer: AATAAA"
     polyA_site      3768
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="major polyA site"
     polyA_site      3784
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
     regulatory      3856..3861
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
                     /note="hexamer: AATAAA"
     polyA_site      3879
                     /gene="ADRA2A"
                     /gene_synonym="ADRA2; ADRA2R; ADRAR; ALPHA2AAR; ZNF32"
ORIGIN
        1 gagcagcagc agctccagct cggtgcagaa gcccagcagc cggcgtgccg ccgcccggcc
       61 actccagcgc cttcttcccc gccttgcgct cctgccccaa ctcgcgctgt cgtcggaccc
      121 cggcccatcc agcagcgctc ggcgcccacc aggcggacgc ccaggagaac ccctgcctcc
      181 gtcgcggctc ctggagagct gatcgttcac ctgccccggc ccgcctgagg acgggggtgc
      241 cttcatgcgg cccccacact cctcaccccg ccgccgccgc cgtcccggag ctccgcacag
      301 tgtgccccag ccccagcagg gcgcacaact ttggaagtct cgcggcgctc cgagaggcgg
      361 cagagtccgc gccccagccc cgggccgggc cgggccagaa ccgcagcgtc tgggggaagc
      421 cagagagtcg gtaatcgctt cggggatgta aggcgacaga cataggaccc ccgagctcgc
      481 atcagcaccc ttcggctgcc tcccggggtg ggggcgggcc ccgcacacgg taagacctct
      541 tgctttcgct caggctcaag attcaagata cagatattga tatgtatata tatatttaat
      601 ttcctgtcat ccttccaagt tatcaggcca ccgatgattt ttgttctccc ttcttgaaga
      661 ataaatctct ctttacccat cggctctccc tactctctcc cgccgcttag aaataaaact
      721 tggctgtatt aggagctcgg agcaagaagg cgcccaccga gagcgtctga agcgcgagcc
      781 aggcgcagtt cgcgggaccc gggccatggg ccgctagcgg tcctccagtt cgggcccggc
      841 ctccctgcgg ccccctccct atgtgagccg cagccaggcg agcggggcgc cggaggaaga
      901 ggaggaccca cgggcgccgg gccggaaggc agctggcagc aggcccaggc cagcgggcgc
      961 ccgcgttcat gttccgccag gagcagccgt tggccgaggg cagctttgcg cccatgggct
     1021 ccctgcagcc ggacgcgggc aacgcgagct ggaacgggac cgaggcgccg gggggcggcg
     1081 cccgggccac cccttactcc ctgcaggtga cgctgacgct ggtgtgcctg gccggcctgc
     1141 tcatgctgct caccgtgttc ggcaacgtgc tcgtcatcat cgccgtgttc acgagccgcg
     1201 cgctcaaggc gccccaaaac ctcttcctgg tgtctctggc ctcggccgac atcctggtgg
     1261 ccacgctcgt catccctttc tcgctggcca acgaggtcat gggctactgg tacttcggca
     1321 aggcttggtg cgagatctac ctggcgctcg acgtgctctt ctgcacgtcg tccatcgtgc
     1381 acctgtgcgc catcagcctg gaccgctact ggtccatcac acaggccatc gagtacaacc
     1441 tgaagcgcac gccgcgccgc atcaaggcca tcatcatcac cgtgtgggtc atctcggccg
     1501 tcatctcctt cccgccgctc atctccatcg agaagaaggg cggcggcggc ggcccgcagc
     1561 cggccgagcc gcgctgcgag atcaacgacc agaagtggta cgtcatctcg tcgtgcatcg
     1621 gctccttctt cgctccctgc ctcatcatga tcctggtcta cgtgcgcatc taccagatcg
     1681 ccaagcgtcg cacccgcgtg ccacccagcc gccggggtcc ggacgccgtc gccgcgccgc
     1741 cggggggcac cgagcgcagg cccaacggtc tgggccccga gcgcagcgcg ggcccggggg
     1801 gcgcagaggc cgaaccgctg cccacccagc tcaacggcgc ccctggcgag cccgcgccgg
     1861 ccgggccgcg cgacaccgac gcgctggacc tggaggagag ctcgtcttcc gaccacgccg
     1921 agcggcctcc agggccccgc agacccgagc gcggtccccg gggcaaaggc aaggcccgag
     1981 cgagccaggt gaagccgggc gacagcctgc cgcggcgcgg gccgggggcg acggggatcg
     2041 ggacgccggc tgcagggccg ggggaggagc gcgtcggggc tgccaaggcg tcgcgctggc
     2101 gcgggcggca gaaccgcgag aagcgcttca cgttcgtgct ggccgtggtc atcggagtgt
     2161 tcgtggtgtg ctggttcccc ttcttcttca cctacacgct cacggccgtc gggtgctccg
     2221 tgccacgcac gctcttcaaa ttcttcttct ggttcggcta ctgcaacagc tcgttgaacc
     2281 cggtcatcta caccatcttc aaccacgatt tccgccgcgc cttcaagaag atcctctgtc
     2341 ggggggacag gaagcggatc gtgtgaggtt tccgctggcg cccgcgtaga ctcacgctga
     2401 ctgcaggcag cggggggcat cgaggggtgc ttagccccag ggcactcaga aacccgggcg
     2461 ctgcctgctc tgcgtttcct cgtctggggt ggctctgcag cctcctgcgg gcgggcgtct
     2521 gctgctccta caagggaagc ttcttgctgc caggcccaca catccccagt tgttggtttg
     2581 gccactcttg acctggagcc atcttcctag tgggccaccc ctaatcacta ttgcttccta
     2641 aaggtatttt caccctcttc gcctggtaca gccctcacag ctcttcagag caagcactgg
     2701 actacaaggg catggctcac aaaaggttaa tggatggggg ttacctagcc ctggctaatt
     2761 ccccttccat tcccaactct ctctctcttt ttaaagaaaa atgctaaggg cagccctgcc
     2821 tgccctcccc atcccccgct gtaaatatac actatttttg atagcacaca tggggccccc
     2881 atatctcttg gccttggttt tgatgttgaa atcctggcct tgggagagat gccttccagg
     2941 cagacacagc tgtctggttc aggccaagcc cctttgcaat gcaagccctt tctggtgtta
     3001 tgaagtccct ctatgtcgtc gttttcacca gcaactggtg actgtccctt cgacacggac
     3061 ctgctttgag atttcctgac agggaaaaga tttctgtcca tttttttcct gtgcctaaca
     3121 gcataattgc cttttcctat gtaaatatta tgatggtgga tcaagacata agtaaatgag
     3181 cctttctgcc tcacatcagc cctgtgtata aagccattat tctctgatgc actgtttgcc
     3241 ccagtaactc actttaaaac ctctctttcc agtgttccct ctctccctcc agggccactg
     3301 cttgaagaag aatatgtatg tttctatctt gtatgtctgt gtgcccctcc tgccccgaaa
     3361 gtgctgacta tggggaaatc ttttagctgc tgtttttaga ctccaaggag tggaaattat
     3421 gtggaagaag caaacctgat acaatttgcc caaggtaaac agtttgaaaa gacaaatggg
     3481 cctgccaaac tgtacagttt cttccccaag agctgttagg tatcaaaatg ttgtcctttc
     3541 ccccctccgt gcttttctgg ttgagatcat gtcattgatg aactgccaaa gtcaggggag
     3601 gagggcagag actttgtgtt tacatctgca tttctacatg ttttagacag agacaattta
     3661 aggcctgcac tcttatttca ctaaagaaaa actaatgtca gcacatgttg ctaatgacag
     3721 tggatttttt tttaaataaa aaagtttaca gatcaaatgt gaaataaata tgaatggagt
     3781 ggtcctcttg tctgttatct gagttttcaa aagctttaag actctgggaa catctgattt
     3841 tatggatttt ttaaaaataa aaaatgtaca ttataaaaa
//
LOCUS       NM_000682               3696 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens adrenoceptor alpha 2B (ADRA2B), mRNA.
ACCESSION   NM_000682
VERSION     NM_000682.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3696)
  AUTHORS   Eldeeb HM, Elgharabawy RM, Abd Elmoniem AE and Ahmed AA.
  TITLE     Alpha-2 beta-adrenergic receptor (301-303 I/D) gene polymorphism in
            hypertension and type 2 diabetes mellitus diseases among Saudi cases
            in the Qassim region
  JOURNAL   Sci Prog 104 (2), 368504211012162 (2021)
   PUBMED   33900865
  REMARK    GeneRIF: Alpha-2 beta-adrenergic receptor (301-303 I/D) gene
            polymorphism in hypertension and type 2 diabetes mellitus diseases
            among Saudi cases in the Qassim region.
REFERENCE   2  (bases 1 to 3696)
  AUTHORS   Potnuri AG, Allakonda L and Saheera S.
  TITLE     Involvement of Histamine 2 Receptor in Alpha 1 Adrenoceptor Mediated
            Cardiac Hypertrophy and Oxidative Stress in H9c2 Cardio Myoblasts
  JOURNAL   J Cardiovasc Transl Res 14 (1), 184-194 (2021)
   PUBMED   32385805
  REMARK    GeneRIF: Involvement of Histamine 2 Receptor in Alpha 1 Adrenoceptor
            Mediated Cardiac Hypertrophy and Oxidative Stress in H9c2 Cardio
            Myoblasts.
REFERENCE   3  (bases 1 to 3696)
  AUTHORS   Mulerova capital TE, Cyrilliccapital A, Cyrillic, Filimonov ES,
            Maksimov SA, Maksimov VN, Voevoda capital EM, CyrillicI, Ogarkov
            capital EM, CyrillicY and Ogarkov capital EM, CyrillicY.
  TITLE     Interrelation of cardiovascular risk factors with high albuminury
            among patients with arterial hypertension living in Mountain Shoriya
  JOURNAL   Ter Arkh 91 (1), 71-77 (2019)
   PUBMED   31090375
  REMARK    GeneRIF: In the group of shors with arterial hypertension, high
            albuminuria was associated with polymorphisms of the ACE genes
            (OR=2.05), ADRA2B (OR=6.00),-- The primary predictors determining
            the development of high albuminuria among patients with arterial
            hypertension in both ethnic groups were genetic ones.
REFERENCE   4  (bases 1 to 3696)
  AUTHORS   Fairfield B, Mammarella N, Fontanella L, Sarra A, D'Aurora M,
            Stuppia L and Gatta V.
  TITLE     Aging and the Combined effects of ADRA2B and CB1 deletions on
            Affective Working Memory
  JOURNAL   Sci Rep 9 (1), 4081 (2019)
   PUBMED   30858399
  REMARK    GeneRIF: Aging and the Combined effects of ADRA2B and CB1 deletions
            on Affective Working Memory. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3696)
  AUTHORS   Xie W, Cappiello M, Meng M, Rosenthal R and Zhang W.
  TITLE     ADRA2B deletion variant and enhanced cognitive processing of
            emotional information: A meta-analytical review
  JOURNAL   Neurosci Biobehav Rev 92, 402-416 (2018)
   PUBMED   29751052
  REMARK    GeneRIF: this meta-analysis has established the contributions of
            ADRA2B to the interactions between emotion and cognition, adding to
            the growing literature on individual differences in attention,
            perception and memory. Review article
REFERENCE   6  (bases 1 to 3696)
  AUTHORS   Weinshank RL, Zgombick JM, Macchi M, Adham N, Lichtblau H, Branchek
            TA and Hartig PR.
  TITLE     Cloning, expression, and pharmacological characterization of a human
            alpha 2B-adrenergic receptor
  JOURNAL   Mol Pharmacol 38 (5), 681-688 (1990)
   PUBMED   2172775
REFERENCE   7  (bases 1 to 3696)
  AUTHORS   Chang AC, Ho TF and Chang NC.
  TITLE     In vitro amplification by polymerase chain reaction of a partial
            gene encoding the third subtype of alpha-2 adrenergic receptor in
            humans
  JOURNAL   Biochem Biophys Res Commun 172 (2), 817-823 (1990)
   PUBMED   2173582
REFERENCE   8  (bases 1 to 3696)
  AUTHORS   McClue SJ and Milligan G.
  TITLE     The alpha 2B adrenergic receptor of undifferentiated neuroblastoma x
            glioma hybrid NG108-15 cells, interacts directly with the guanine
            nucleotide binding protein, Gi2
  JOURNAL   FEBS Lett 269 (2), 430-434 (1990)
   PUBMED   2169434
REFERENCE   9  (bases 1 to 3696)
  AUTHORS   Lomasney JW, Lorenz W, Allen LF, King K, Regan JW, Yang-Feng TL,
            Caron MG and Lefkowitz RJ.
  TITLE     Expansion of the alpha 2-adrenergic receptor family: cloning and
            characterization of a human alpha 2-adrenergic receptor subtype, the
            gene for which is located on chromosome 2
  JOURNAL   Proc Natl Acad Sci U S A 87 (13), 5094-5098 (1990)
   PUBMED   2164221
REFERENCE   10  (bases 1 to 3696)
  AUTHORS   Regan JW, Kobilka TS, Yang-Feng TL, Caron MG, Lefkowitz RJ and
            Kobilka BK.
  TITLE     Cloning and expression of a human kidney cDNA for an alpha
            2-adrenergic receptor subtype
  JOURNAL   Proc Natl Acad Sci U S A 85 (17), 6301-6305 (1988)
   PUBMED   2842764
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: SRR1803613.98023.1, BC133021.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000620793.2/ ENSP00000480573.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092603.2 and BC133021.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000682.6.
            Summary: This intronless gene encodes a seven-pass transmembrane
            protein. This protein is a member of a subfamily of G
            protein-coupled receptors that regulate neurotransmitter release
            from sympathetic nerves and from adrenergic neurons in the central
            nervous system. [provided by RefSeq, Apr 2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3696
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..3696
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="adrenoceptor alpha 2B"
                     /db_xref="GeneID:151"
                     /db_xref="HGNC:HGNC:282"
                     /db_xref="MIM:104260"
     misc_feature    345..347
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="upstream in-frame stop codon"
     CDS             423..1775
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="alpha-2-adrenergic receptor-like 1; ADRA2B
                     adrenergic, alpha-2B-, receptor; G-protein coupled
                     receptor; alpha-2B adrenoreceptor; alpha-2 adrenergic
                     receptor subtype C2"
                     /codon_start=1
                     /product="alpha-2B adrenergic receptor"
                     /protein_id="NP_000673.2"
                     /db_xref="CCDS:CCDS56129.1"
                     /db_xref="GeneID:151"
                     /db_xref="HGNC:HGNC:282"
                     /db_xref="MIM:104260"
                     /translation="MDHQDPYSVQATAAIAAAITFLILFTIFGNALVILAVLTSRSLRA
                     PQNLFLVSLAAADILVATLIIPFSLANELLGYWYFRRTWCEVYLALDVLFCTSSIVHLC
                     AISLDRYWAVSRALEYNSKRTPRRIKCIILTVWLIAAVISLPPLIYKGDQGPQPRGRPQ
                     CKLNQEAWYILASSIGSFFAPCLIMILVYLRIYLIAKRSNRRGPRAKGGPGQGESKQPR
                     PDHGGALASAKLPALASVASAREVNGHSKSTGEKEEGETPEDTGTRALPPSWAALPNSG
                     QGQKEGVCGASPEDEAEEEEEEEEEEEECEPQAVPVSPASACSPPLQQPQGSRVLATLR
                     GQVLLGRGVGAIGGQWWRRRAQLTREKRFTFVLAVVIGVFVLCWFPFFFSYSLGAICPK
                     HCKVPHGLFQFFFWIGYCNSSLNPVIYTIFNQDFRRAFRRILCRPWTQTAW"
     misc_feature    459..536
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="propagated from UniProtKB/Swiss-Prot (P18089.4);
                     transmembrane region"
     misc_feature    567..629
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="propagated from UniProtKB/Swiss-Prot (P18089.4);
                     transmembrane region"
     misc_feature    681..743
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="propagated from UniProtKB/Swiss-Prot (P18089.4);
                     transmembrane region"
     misc_feature    696..698
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="Implicated in ligand binding. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P18089.4); other
                     site"
     misc_feature    807..869
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="propagated from UniProtKB/Swiss-Prot (P18089.4);
                     transmembrane region"
     misc_feature    939..1001
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="propagated from UniProtKB/Swiss-Prot (P18089.4);
                     transmembrane region"
     misc_feature    948..950
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="Implicated in catechol agonist binding.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P18089.4); other site"
     misc_feature    960..962
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="Implicated in catechol agonist binding.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P18089.4); other site"
     misc_feature    1032..1109
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="propagated from UniProtKB/Swiss-Prot (P18089.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1143..1409
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="propagated from UniProtKB/Swiss-Prot (P18089.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1527..1589
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="propagated from UniProtKB/Swiss-Prot (P18089.4);
                     transmembrane region"
     misc_feature    1638..1700
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="propagated from UniProtKB/Swiss-Prot (P18089.4);
                     transmembrane region"
     regulatory      2655..2660
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="hexamer: TATAAA"
     polyA_site      2687
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="major polyA site"
     regulatory      3675..3680
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="hexamer: AATAAA"
     polyA_site      3696
                     /gene="ADRA2B"
                     /gene_synonym="ADRA2L1; ADRA2RL1; ADRARL1; alpha-2BAR;
                     ALPHA2BAR; FAME2"
                     /note="major polyA site"
ORIGIN
        1 actcccctgc aggcgcggct ggggcgaaag cctgcgagct gagcgggcgc aaggtcctcc
       61 gcgcctcctt taagaaccgg cccagcccgg cccgcgcccc cagagcgtac ggcatccgcg
      121 tggcgggagg gcgcgacttt ctccggtccc gggcgggacg gggacggcgg cgggacaact
      181 tgggaaactt ctctggggcg gacggcaggg accccgggca ccggtggagg aggatgtagg
      241 agggcggctg ctggtcctgg gtgttcccga cctcctaggc cccgctcgtc caggccatgg
      301 ggctccagcg ccctcggcgc cgcccgaggg gcgacgctct tgtctagccg agccgggcag
      361 cgctgtcgtc cacggtgcgc actgggcggg cagcgctccc tctgcccacc tcccgccccg
      421 tcatggacca ccaggacccc tactccgtgc aggccacagc ggccatagcg gcggccatca
      481 ccttcctcat tctctttacc atcttcggca acgctctggt catcctggct gtgttgacca
      541 gccgctcgct gcgcgcccct cagaacctgt tcctggtgtc gctggccgcc gccgacatcc
      601 tggtggccac gctcatcatc cctttctcgc tggccaacga gctgctgggc tactggtact
      661 tccggcgcac gtggtgcgag gtgtacctgg cgctcgacgt gctcttctgc acctcgtcca
      721 tcgtgcacct gtgcgccatc agcctggacc gctactgggc cgtgagccgc gcgctggagt
      781 acaactccaa gcgcaccccg cgccgcatca agtgcatcat cctcactgtg tggctcatcg
      841 ccgccgtcat ctcgctgccg cccctcatct acaagggcga ccagggcccc cagccgcgcg
      901 ggcgccccca gtgcaagctc aaccaggagg cctggtacat cctggcctcc agcatcggat
      961 ctttctttgc tccttgcctc atcatgatcc ttgtctacct gcgcatctac ctgatcgcca
     1021 aacgcagcaa ccgcagaggt cccagggcca agggggggcc tgggcagggt gagtccaagc
     1081 agccccgacc cgaccatggt ggggctttgg cctcagccaa actgccagcc ctggcctctg
     1141 tggcttctgc cagagaggtc aacggacact cgaagtccac tggggagaag gaggaggggg
     1201 agacccctga agatactggg acccgggcct tgccacccag ttgggctgcc cttcccaact
     1261 caggccaggg ccagaaggag ggtgtttgtg gggcatctcc agaggatgaa gctgaagagg
     1321 aggaagagga ggaggaggag gaggaagagt gtgaacccca ggcagtgcca gtgtctccgg
     1381 cctcagcttg cagccccccg ctgcagcagc cacagggctc ccgggtgctg gccaccctac
     1441 gtggccaggt gctcctgggc aggggcgtgg gtgctatagg tgggcagtgg tggcgtcgac
     1501 gggcgcagct gacccgggag aagcgcttca ccttcgtgct ggctgtggtc attggcgttt
     1561 ttgtgctctg ctggttcccc ttcttcttca gctacagcct gggagccatc tgcccgaagc
     1621 actgcaaggt gccccatggc ctcttccagt tcttcttctg gatcggctac tgcaacagct
     1681 cactgaaccc tgttatctac accatcttca accaggactt ccgccgtgcc ttccggagga
     1741 tcctgtgccg cccgtggacc cagacggcct ggtgagcccg cctgcgctgc ccctgtgggg
     1801 ttggtgcggt ggcgccgggg tcaccctgct tcttgccctg ctgtgtgtgg ctgcctcccc
     1861 tgggctttct gctccctgcc cagatcctgt aggcctcatc ttaggaaccc cttgggaggg
     1921 gtgggcaggg gggctgctag caagggtccc agtgaagctt ccccttgccg gcttagctgt
     1981 gggggacccc ttctccaccc tctccctgag cacaggccga tggaggtggt tcaaatcctc
     2041 tggaacatag ccaagaccag gagaagagag agcactttct tcccagagcc ccatgctctc
     2101 cagaccaatg tctgggcttc cctttcttga ggaccttgtg ttcctggcag gtcacttgct
     2161 tgtggtgttt tcgtttcttt ttcatctccc ccccacccac aaagagcacg gagccagcct
     2221 tccacttttc ccagtggggc ctgctgctga gggggaggaa gaaacgaaga ctgatcaccc
     2281 acgctaggca ctcgcggtcc ctggcaggcg ctgggatggg ggcttatggg gtggcatcgt
     2341 ctctgggccc tcctttcccc ctttgcctgt tttcggatct gtggttcctt tgaaagccag
     2401 aacaatggat cggcttcctt acccagcacc cctccggtag gtgggtggcc acgtggatgc
     2461 ctcgctgggg cggtcttgga ggcctggtct ctgcctcgac gggagatccc cgatcactgg
     2521 cattcacccc ctgcaaaaat cggggcgaca atagctcact gcctacttgc tgcagggaga
     2581 tgaaaggctt tgcagaaagc tttgagctct gtgggggaac acactagaga accaaaaatg
     2641 tgattatatg gtgatataaa aatccctttc ctctgtgttt accaccacct gtcttcctgt
     2701 agacttttgt tctgtccctg gggtgtgtga attcctaccc cgaactggaa gccgggagtg
     2761 gcagacagaa tcactatttc aagttaaagg atctctttga gaatgtgttc ttctggctgc
     2821 aaaggtctga gttattacgc tacatgacaa cgtttcgaca tttcaccggc aacaccaaga
     2881 gggtttttag tggcttgggt ctccccagtg ggggataagt cttttgtcat caaggaggca
     2941 aattgtctcc ccaagacagc tcaaaatatc cacacctcgg caacagtcta agatgagagc
     3001 ctgtgacagg tggcagcgcc cccaggtggg gtactggcat cagagcctgg tgcgccccta
     3061 ggggagcctc ccactggagt gcccggccag gtctccaagc cccaaatgag tccttgtgaa
     3121 ccacaactga tccccccagg tgggtgcttg tggactgcct cggacccagc cacgctgctc
     3181 cccgcaatgc tgatggggct gtgcattgag gacccctgct tcctggttct cagtcccacc
     3241 ccaaaacctg gcacccagaa cagttggaag tgtggaaagg aggtttatcg gccttccctt
     3301 ggagagggcc tggcttcaac attgggccag taggcatctt agcttggcag gtgtcggggg
     3361 aatgggccag atggacctgc tagatttgga agggcaccga gggagttttc tgggtgtaga
     3421 gagaatggag gggaccaaaa agagtccttc ctggggtgtg ggaggcttcc cagcttggtc
     3481 ctcagtgggt tgttgaggcc agagtatcgc cctgggatgt ggtggggagc tgggccagga
     3541 gagggactga ctgtgaccct ctgctggccg gtcttgtgtg cgccccatgg gacccccagt
     3601 gttcttgcct gtgacctctt attgcgacat gcaggtggtg tttttttttt ttttaaactc
     3661 tgagctattt tatcaataaa ggatattttg taataa
//
LOCUS       NM_000683               2142 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens adrenoceptor alpha 2C (ADRA2C), mRNA.
ACCESSION   NM_000683
VERSION     NM_000683.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2142)
  AUTHORS   Amar J, Brunel J, Cardot Bauters C, Jacques V, Delmas C, Odou MF and
            Savagner F.
  TITLE     Genetic biomarkers of life-threatening pheochromocytoma-induced
            cardiomyopathy
  JOURNAL   Endocr Relat Cancer 29 (5), 267-272 (2022)
   PUBMED   35258481
  REMARK    GeneRIF: Genetic biomarkers of life-threatening
            pheochromocytoma-induced cardiomyopathy. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2142)
  AUTHORS   Brocos-Mosquera I, Gabilondo AM, Diez-Alarcia R, Muguruza C,
            Erdozain AM, Meana JJ and Callado LF.
  TITLE     alpha2A- and alpha2C-adrenoceptor expression and functionality in
            postmortem prefrontal cortex of schizophrenia subjects
  JOURNAL   Eur Neuropsychopharmacol 52, 3-11 (2021)
   PUBMED   34237656
  REMARK    GeneRIF: alpha2A- and alpha2C-adrenoceptor expression and
            functionality in postmortem prefrontal cortex of schizophrenia
            subjects.
REFERENCE   3  (bases 1 to 2142)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2142)
  AUTHORS   Rivero EM, Martinez LM, Bruque CD, Gargiulo L, Bruzzone A and Luthy
            IA.
  TITLE     Prognostic significance of alpha- and beta2-adrenoceptor gene
            expression in breast cancer patients
  JOURNAL   Br J Clin Pharmacol 85 (9), 2143-2154 (2019)
   PUBMED   31218733
  REMARK    GeneRIF: Prognostic significance of alpha- and beta2-adrenoceptor
            gene expression in breast cancer patients.
REFERENCE   5  (bases 1 to 2142)
  AUTHORS   Motawea HKB, Chotani MA, Ali M, Ackerman W, Zhao G, Ahmed AAE,
            Buhimschi CS and Buhimschi IA.
  TITLE     Human Placenta Expresses alpha2-Adrenergic Receptors and May Be
            Implicated in Pathogenesis of Preeclampsia and Fetal Growth
            Restriction
  JOURNAL   Am J Pathol 188 (12), 2774-2785 (2018)
   PUBMED   30273604
  REMARK    GeneRIF: High alpha2-Adrenergic Receptor expression is associated
            with Pathogenesis of Preeclampsia and Fetal Growth Restriction.
REFERENCE   6  (bases 1 to 2142)
  AUTHORS   Riess O, Thies U, Siedlaczck I, Potisek S, Graham R, Theilmann J,
            Grimm T, Epplen JT and Hayden MR.
  TITLE     Precise mapping of the brain alpha 2-adrenergic receptor gene within
            chromosome 4p16
  JOURNAL   Genomics 19 (2), 298-302 (1994)
   PUBMED   8188260
REFERENCE   7  (bases 1 to 2142)
  AUTHORS   Eason MG and Liggett SB.
  TITLE     Human alpha 2-adrenergic receptor subtype distribution: widespread
            and subtype-selective expression of alpha 2C10, alpha 2C4, and alpha
            2C2 mRNA in multiple tissues
  JOURNAL   Mol Pharmacol 44 (1), 70-75 (1993)
   PUBMED   7688069
REFERENCE   8  (bases 1 to 2142)
  AUTHORS   Coupry I, Duzic E and Lanier SM.
  TITLE     Factors determining the specificity of signal transduction by
            guanine nucleotide-binding protein-coupled receptors. II.
            Preferential coupling of the alpha 2C-adrenergic receptor to the
            guanine nucleotide-binding protein, Go
  JOURNAL   J Biol Chem 267 (14), 9852-9857 (1992)
   PUBMED   1349607
REFERENCE   9  (bases 1 to 2142)
  AUTHORS   Chhajlani V, Rangel N, Uhlen S and Wikberg JE.
  TITLE     Identification of an additional gene belonging to the alpha 2
            adrenergic receptor family in the human genome by PCR
  JOURNAL   FEBS Lett 280 (2), 241-244 (1991)
   PUBMED   1849485
REFERENCE   10  (bases 1 to 2142)
  AUTHORS   Regan JW, Kobilka TS, Yang-Feng TL, Caron MG, Lefkowitz RJ and
            Kobilka BK.
  TITLE     Cloning and expression of a human kidney cDNA for an alpha
            2-adrenergic receptor subtype
  JOURNAL   Proc Natl Acad Sci U S A 85 (17), 6301-6305 (1988)
   PUBMED   2842764
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC142625.1, J03853.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000330055.7/ ENSP00000386069.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC141928.2.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000683.3.
            Summary: Alpha-2-adrenergic receptors are members of the G
            protein-coupled receptor superfamily. They include 3 highly
            homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors
            have a critical role in regulating neurotransmitter release from
            sympathetic nerves and from adrenergic neurons in the central
            nervous system. The mouse studies revealed that both the alpha2A
            and alpha2C subtypes were required for normal presynaptic control
            of transmitter release from sympathetic nerves in the heart and
            from central noradrenergic neurons. The alpha2A subtype inhibited
            transmitter release at high stimulation frequencies, whereas the
            alpha2C subtype modulated neurotransmission at lower levels of
            nerve activity. This gene encodes the alpha2C subtype, which
            contains no introns in either its coding or untranslated sequences.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2142
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..2142
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="adrenoceptor alpha 2C"
                     /db_xref="GeneID:152"
                     /db_xref="HGNC:HGNC:283"
                     /db_xref="MIM:104250"
     CDS             223..1611
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="alpha2-AR-C4; alpha-2CAR; alpha-2C adrenoceptor;
                     alpha-2C adrenoreceptor; alpha-2 adrenergic receptor
                     subtype C4; adrenergic, alpha-2C-, receptor"
                     /codon_start=1
                     /product="alpha-2C adrenergic receptor"
                     /protein_id="NP_000674.2"
                     /db_xref="CCDS:CCDS47004.1"
                     /db_xref="GeneID:152"
                     /db_xref="HGNC:HGNC:283"
                     /db_xref="MIM:104250"
                     /translation="MASPALAAALAVAAAAGPNASGAGERGSGGVANASGASWGPPRGQ
                     YSAGAVAGLAAVVGFLIVFTVVGNVLVVIAVLTSRALRAPQNLFLVSLASADILVATLV
                     MPFSLANELMAYWYFGQVWCGVYLALDVLFCTSSIVHLCAISLDRYWSVTQAVEYNLKR
                     TPRRVKATIVAVWLISAVISFPPLVSLYRQPDGAAYPQCGLNDETWYILSSCIGSFFAP
                     CLIMGLVYARIYRVAKLRTRTLSEKRAPVGPDGASPTTENGLGAAAGAGENGHCAPPPA
                     DVEPDESSAAAERRRRRGALRRGGRRRAGAEGGAGGADGQGAGPGAAESGALTASRSPG
                     PGGRLSRASSRSVEFFLSRRRRARSSVCRRKVAQAREKRFTFVLAVVMGVFVLCWFPFF
                     FSYSLYGICREACQVPGPLFKFFFWIGYCNSSLNPVIYTVFNQDFRRSFKHILFRRRRR
                     GFRQ"
     misc_feature    277..279
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P18825.2); glycosylation site"
     misc_feature    319..321
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P18825.2); glycosylation site"
     misc_feature    376..450
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P18825.2);
                     transmembrane region"
     misc_feature    487..564
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P18825.2);
                     transmembrane region"
     misc_feature    595..663
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P18825.2);
                     transmembrane region"
     misc_feature    613..615
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="Implicated in ligand binding. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P18825.2); other
                     site"
     misc_feature    727..795
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P18825.2);
                     transmembrane region"
     misc_feature    844..915
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P18825.2);
                     transmembrane region"
     misc_feature    862..864
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="Implicated in catechol agonist binding and receptor
                     activation. /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (P18825.2); other site"
     misc_feature    874..876
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="Implicated in catechol agonist binding and receptor
                     activation. /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (P18825.2); other site"
     misc_feature    958..1263
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P18825.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1360..1443
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P18825.2);
                     transmembrane region"
     misc_feature    1483..1545
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="propagated from UniProtKB/Swiss-Prot (P18825.2);
                     transmembrane region"
     regulatory      2123..2128
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="hexamer: AATAAA"
     polyA_site      2142
                     /gene="ADRA2C"
                     /gene_synonym="ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR"
                     /note="major polyA site"
ORIGIN
        1 acttacacgc tcggcagctg cggggagccc ggcagccacg ctctccggcg cgccgcccgc
       61 ggagccacca cggccgaggg ccggctgctg ggcgccgcgg tccccggcgg gcgcgcccga
      121 gcagcaggcg gcgatgcggg cgccgacccc ggctgggggg cgcccgagct gccgcggctg
      181 cgccccggct ccaggaggga cggcgtagct cgcgggagga ccatggcgtc cccggcgctg
      241 gcggcggcgc tggcggtggc ggcagcggcg ggccccaatg cgagcggcgc gggcgagagg
      301 ggcagcggcg gggttgccaa tgcctcgggg gcttcctggg ggccgccgcg cggccagtac
      361 tcggcgggcg cggtggcagg gctggctgcc gtggtgggct tcctcatcgt cttcaccgtg
      421 gtgggcaacg tgctggtggt gatcgccgtg ctgaccagcc gggcgctgcg cgcgccacag
      481 aacctcttcc tggtgtcgct ggcctcggcc gacatcctgg tggccacgct ggtcatgccc
      541 ttctcgttgg ccaacgagct catggcctac tggtacttcg ggcaggtgtg gtgcggcgtg
      601 tacctggcgc tcgatgtgct gttttgcacc tcgtcgatcg tgcatctgtg tgccatcagc
      661 ctggaccgct actggtcggt gacgcaggcc gtcgagtaca acctgaagcg cacaccacgc
      721 cgcgtcaagg ccaccatcgt ggccgtgtgg ctcatctcgg ccgtcatctc cttcccgccg
      781 ctggtctcgc tctaccgcca gcccgacggc gccgcctacc cgcagtgcgg cctcaacgac
      841 gagacctggt acatcctgtc ctcctgcatc ggctccttct tcgcgccctg cctcatcatg
      901 ggcctggtct acgcgcgcat ctaccgagtg gccaagctgc gcacgcgcac gctcagcgag
      961 aagcgcgccc ccgtgggccc cgacggtgcg tccccgacta ccgaaaacgg gctgggcgcg
     1021 gcggcaggcg caggcgagaa cgggcactgc gcgcccccgc ccgccgacgt ggagccggac
     1081 gagagcagcg cagcggccga gaggcggcgg cgccggggcg cgttgcggcg gggcgggcgg
     1141 cggcgagcgg gcgcggaggg gggcgcgggc ggtgcggacg ggcagggggc ggggccgggg
     1201 gcggctgagt cgggggcgct gaccgcctcc aggtccccgg ggcccggtgg ccgcctgtcg
     1261 cgcgccagct cgcgctccgt cgagttcttc ctgtcgcgcc ggcgccgggc gcgcagcagc
     1321 gtgtgccgcc gcaaggtggc ccaggcgcgc gagaagcgct tcacctttgt gctggctgtg
     1381 gtcatgggcg tgttcgtgct ctgctggttc cccttcttct tcagctacag cctgtacggc
     1441 atctgccgcg aggcctgcca ggtgcccggc ccgctcttca agttcttctt ctggatcggc
     1501 tactgcaaca gctcgctcaa cccggtcatc tacacggtct tcaaccagga tttccggcga
     1561 tcctttaagc acatcctctt ccgacggagg agaaggggct tcaggcagtg actcgcaccc
     1621 gtctgggaat cctggacagc tccgcgctcg gggctgggca gaaggggcgg cccggacggg
     1681 ggagctttcc cagagacccg gggatggatt ggcctccagg gcgcagggga gggtgcggca
     1741 gggcaggagc ttggcagaga gatagccggg ctccagggag tggggaggag agagggggag
     1801 acccctttgc cttcccccct cagcaagggg ctgcttctgg ggctccctgc ctggatccag
     1861 ctctgggagc cctgccgagg tgtggctgtg aggtcagggt tttagagagc agtggcagag
     1921 gtagccccct aaatgggcaa gcaaggagcc ccccaaagac actaccactc cccatccccg
     1981 tctgaccaag ggctgacttc tccaggacct agtcgggggg tggctgccag ggggcaagga
     2041 gaaagcaccg acaatctttg attactgaaa gtatttaaat gtttgccaaa aacaacagcc
     2101 aaaacaacca aactattttc taaataaacc tttgtaatct aa
//
LOCUS       NM_000684               3039 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens adrenoceptor beta 1 (ADRB1), mRNA.
ACCESSION   NM_000684
VERSION     NM_000684.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3039)
  AUTHORS   Tatman PD, Kao DP, Chatfield KC, Carroll IA, Wagner JA, Jonas ER,
            Sucharov CC, Port JD, Lowes BD, Minobe WA, Huebler SP,
            Karimpour-Fard A, Rodriguez EM, Liggett SB and Bristow MR.
  TITLE     An extensive beta1-adrenergic receptor gene signaling network
            regulates molecular remodeling in dilated cardiomyopathies
  JOURNAL   JCI Insight 8 (16), e169720 (2023)
   PUBMED   37606047
  REMARK    GeneRIF: An extensive beta1-adrenergic receptor gene signaling
            network regulates molecular remodeling in dilated cardiomyopathies.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3039)
  AUTHORS   Muslimova E, Rebrova T, Kondratieva D, Korepanov V, Sonduev E,
            Kozlov B and Afanasiev S.
  TITLE     Expression of the beta1-adrenergic receptor (ADRB1) gene in the
            myocardium and beta-adrenergic reactivity of the body in patients
            with a history of myocardium infraction
  JOURNAL   Gene 844, 146820 (2022)
   PUBMED   35987510
  REMARK    GeneRIF: Expression of the beta1-adrenergic receptor (ADRB1) gene in
            the myocardium and beta-adrenergic reactivity of the body in
            patients with a history of myocardium infraction.
REFERENCE   3  (bases 1 to 3039)
  AUTHORS   Amar J, Brunel J, Cardot Bauters C, Jacques V, Delmas C, Odou MF and
            Savagner F.
  TITLE     Genetic biomarkers of life-threatening pheochromocytoma-induced
            cardiomyopathy
  JOURNAL   Endocr Relat Cancer 29 (5), 267-272 (2022)
   PUBMED   35258481
  REMARK    GeneRIF: Genetic biomarkers of life-threatening
            pheochromocytoma-induced cardiomyopathy. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3039)
  AUTHORS   Matuskova L, Czippelova B, Turianikova Z, Svec D, Kolkova Z,
            Lasabova Z and Javorka M.
  TITLE     Beta-adrenergic receptors gene polymorphisms are associated with
            cardiac contractility and blood pressure variability
  JOURNAL   Physiol Res 70 (S3), S327-S337 (2021)
   PUBMED   35099251
  REMARK    GeneRIF: Beta-adrenergic receptors gene polymorphisms are associated
            with cardiac contractility and blood pressure variability.
REFERENCE   5  (bases 1 to 3039)
  AUTHORS   Tutgun Onrat S, Dural IE, Yalim Z and Onrat E.
  TITLE     Investigating changes in beta-adrenergic gene expression (ADRB1 and
            ADRB2) in Takotsubo (stress) cardiomyopathy syndrome; a pilot study
  JOURNAL   Mol Biol Rep 48 (12), 7893-7900 (2021)
   PUBMED   34716504
  REMARK    GeneRIF: Investigating changes in beta-adrenergic gene expression
            (ADRB1 and ADRB2) in Takotsubo (stress) cardiomyopathy syndrome; a
            pilot study. Erratum:[Mol Biol Rep. 2022 Apr;49(4):3373-3375. PMID:
            35184270]
REFERENCE   6  (bases 1 to 3039)
  AUTHORS   Yang-Feng TL, Xue FY, Zhong WW, Cotecchia S, Frielle T, Caron MG,
            Lefkowitz RJ and Francke U.
  TITLE     Chromosomal organization of adrenergic receptor genes
  JOURNAL   Proc Natl Acad Sci U S A 87 (4), 1516-1520 (1990)
   PUBMED   2154750
REFERENCE   7  (bases 1 to 3039)
  AUTHORS   Forse RA, Leibel R and Gagner M.
  TITLE     The effect of Escherichia coli endotoxin on the adrenergic control
            of lipolysis in the human adipocyte
  JOURNAL   J Surg Res 46 (1), 41-48 (1989)
   PUBMED   2536864
REFERENCE   8  (bases 1 to 3039)
  AUTHORS   Frielle,T., Kobilka,B., Lefkowitz,R.J. and Caron,M.G.
  TITLE     Human beta 1- and beta 2-adrenergic receptors: structurally and
            functionally related receptors derived from distinct genes
  JOURNAL   Trends Neurosci 11 (7), 321-324 (1988)
   PUBMED   2465637
  REMARK    Review article
REFERENCE   9  (bases 1 to 3039)
  AUTHORS   Frielle T, Collins S, Daniel KW, Caron MG, Lefkowitz RJ and Kobilka
            BK.
  TITLE     Cloning of the cDNA for the human beta 1-adrenergic receptor
  JOURNAL   Proc Natl Acad Sci U S A 84 (22), 7920-7924 (1987)
   PUBMED   2825170
REFERENCE   10  (bases 1 to 3039)
  AUTHORS   Stiles,G.L., Strasser,R.H., Lavin,T.N., Jones,L.R., Caron,M.G. and
            Lefkowitz,R.J.
  TITLE     The cardiac beta-adrenergic receptor. Structural similarities of
            beta 1 and beta 2 receptor subtypes demonstrated by photoaffinity
            labeling
  JOURNAL   J Biol Chem 258 (13), 8443-8449 (1983)
   PUBMED   6305985
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: J03019.1, ERR279860.945.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000369295.4/ ENSP00000358301.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355543.13.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000684.2.
            Summary: The adrenergic receptors (subtypes alpha 1, alpha 2, beta
            1, and beta 2) are a prototypic family of guanine nucleotide
            binding regulatory protein-coupled receptors that mediate the
            physiological effects of the hormone epinephrine and the
            neurotransmitter norepinephrine. Beta-1 adrenoceptors are
            predominately located in the heart. Specific polymorphisms in this
            gene have been shown to affect the resting heart rate and can be
            involved in heart failure. [provided by RefSeq, Sep 2019].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3039
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.3"
     gene            1..3039
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="adrenoceptor beta 1"
                     /db_xref="GeneID:153"
                     /db_xref="HGNC:HGNC:285"
                     /db_xref="MIM:109630"
     misc_feature    157..159
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="upstream in-frame stop codon"
     CDS             268..1701
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="beta-1 adrenoceptor; beta-1 adrenoreceptor;
                     adrenergic, beta-1-, receptor"
                     /codon_start=1
                     /product="beta-1 adrenergic receptor"
                     /protein_id="NP_000675.1"
                     /db_xref="CCDS:CCDS7586.1"
                     /db_xref="GeneID:153"
                     /db_xref="HGNC:HGNC:285"
                     /db_xref="MIM:109630"
                     /translation="MGAGVLVLGASEPGNLSSAAPLPDGAATAARLLVPASPPASLLPP
                     ASESPEPLSQQWTAGMGLLMALIVLLIVAGNVLVIVAIAKTPRLQTLTNLFIMSLASAD
                     LVMGLLVVPFGATIVVWGRWEYGSFFCELWTSVDVLCVTASIETLCVIALDRYLAITSP
                     FRYQSLLTRARARGLVCTVWAISALVSFLPILMHWWRAESDEARRCYNDPKCCDFVTNR
                     AYAIASSVVSFYVPLCIMAFVYLRVFREAQKQVKKIDSCERRFLGGPARPPSPSPSPVP
                     APAPPPGPPRPAAAAATAPLANGRAGKRRPSRLVALREQKALKTLGIIMGVFTLCWLPF
                     FLANVVKAFHRELVPDRLFVFFNWLGYANSAFNPIIYCRSPDFRKAFQGLLCCARRAAR
                     RRHATHGDRPRASGCLARPGPPPSPGAASDDDDDDVVGATPPARLLEPWAGCNGGAAAD
                     SDSSLDEPCRPGFASESKV"
     misc_feature    310..312
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot
                     (P08588.3); glycosylation site"
     misc_feature    433..519
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P08588.3);
                     transmembrane region"
     misc_feature    547..627
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P08588.3);
                     transmembrane region"
     misc_feature    664..729
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P08588.3);
                     transmembrane region"
     misc_feature    784..855
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P08588.3);
                     transmembrane region"
     misc_feature    934..1011
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P08588.3);
                     transmembrane region"
     misc_feature    1072..1188
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P08588.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1201..1203
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="Phosphoserine, by PKA. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P08588.3);
                     phosphorylation site"
     misc_feature    1225..1314
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P08588.3);
                     transmembrane region"
     misc_feature    1330..1398
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P08588.3);
                     transmembrane region"
     misc_feature    1474..1698
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P08588.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1501..1503
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="Phosphoserine, by PKA. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P08588.3);
                     phosphorylation site"
     misc_feature    1549..1551
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P18090; propagated from
                     UniProtKB/Swiss-Prot (P08588.3); phosphorylation site"
     misc_feature    1687..1698
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="propagated from UniProtKB/Swiss-Prot (P08588.3);
                     Region: PDZ-Binding"
     regulatory      2736..2741
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="hexamer: AATAAA"
     polyA_site      2753
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
     regulatory      3018..3023
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="hexamer: AATAAA"
     polyA_site      3039
                     /gene="ADRB1"
                     /gene_synonym="ADRB1R; B1AR; BETA1AR; FNSS2; RHR"
                     /note="major polyA site"
ORIGIN
        1 agaaacatgc tgaagtcccg gcggctcttc cagcagcggc agcggctcca gcagcagcgg
       61 cggcggcggc ggcggcggca gcggcagcga cagcgctcgg ctcctgcggg aaaggcgccc
      121 ggcgcccatg cctccggccc cgcgccgcgg ctgccctgac ccggccgcga cctccctctg
      181 cgcaccacgc cgcccgggct tctggggtgt tccccaacca cggcccagcc ctgccacacc
      241 ccccgccccc ggcctccgca gctcggcatg ggcgcggggg tgctcgtcct gggcgcctcc
      301 gagcccggta acctgtcgtc ggccgcaccg ctccccgacg gcgcggccac cgcggcgcgg
      361 ctgctggtgc ccgcgtcgcc gcccgcctcg ttgctgcctc ccgccagcga aagccccgag
      421 ccgctgtctc agcagtggac agcgggcatg ggtctgctga tggcgctcat cgtgctgctc
      481 atcgtggcgg gcaatgtgct ggtgatcgtg gccatcgcca agacgccgcg gctgcagacg
      541 ctcaccaacc tcttcatcat gtccctggcc agcgccgacc tggtcatggg gctgctggtg
      601 gtgccgttcg gggccaccat cgtggtgtgg ggccgctggg agtacggctc cttcttctgc
      661 gagctgtgga cctcagtgga cgtgctgtgc gtgacggcca gcatcgagac cctgtgtgtc
      721 attgccctgg accgctacct cgccatcacc tcgcccttcc gctaccagag cctgctgacg
      781 cgcgcgcggg cgcggggcct cgtgtgcacc gtgtgggcca tctcggccct ggtgtccttc
      841 ctgcccatcc tcatgcactg gtggcgggcg gagagcgacg aggcgcgccg ctgctacaac
      901 gaccccaagt gctgcgactt cgtcaccaac cgggcctacg ccatcgcctc gtccgtagtc
      961 tccttctacg tgcccctgtg catcatggcc ttcgtgtacc tgcgggtgtt ccgcgaggcc
     1021 cagaagcagg tgaagaagat cgacagctgc gagcgccgtt tcctcggcgg cccagcgcgg
     1081 ccgccctcgc cctcgccctc gcccgtcccc gcgcccgcgc cgccgcccgg acccccgcgc
     1141 cccgccgccg ccgccgccac cgccccgctg gccaacgggc gtgcgggtaa gcggcggccc
     1201 tcgcgcctcg tggccctgcg cgagcagaag gcgctcaaga cgctgggcat catcatgggc
     1261 gtcttcacgc tctgctggct gcccttcttc ctggccaacg tggtgaaggc cttccaccgc
     1321 gagctggtgc ccgaccgcct cttcgtcttc ttcaactggc tgggctacgc caactcggcc
     1381 ttcaacccca tcatctactg ccgcagcccc gacttccgca aggccttcca gggactgctc
     1441 tgctgcgcgc gcagggctgc ccgccggcgc cacgcgaccc acggagaccg gccgcgcgcc
     1501 tcgggctgtc tggcccggcc cggacccccg ccatcgcccg gggccgcctc ggacgacgac
     1561 gacgacgatg tcgtcggggc cacgccgccc gcgcgcctgc tggagccctg ggccggctgc
     1621 aacggcgggg cggcggcgga cagcgactcg agcctggacg agccgtgccg ccccggcttc
     1681 gcctcggaat ccaaggtgta gggcccggcg cggggcgcgg actccgggca cggcttccca
     1741 ggggaacgag gagatctgtg tttacttaag accgatagca ggtgaactcg aagcccacaa
     1801 tcctcgtctg aatcatccga ggcaaagaga aaagccacgg accgttgcac aaaaaggaaa
     1861 gtttgggaag ggatgggaga gtggcttgct gatgttcctt gttgtttttt ttttcttttc
     1921 ttttctttct tcttcttttt tttttttttt tttttttctg tttgtggtcc ggccttcttt
     1981 tgtgtgtgcg tgtgatgcat ctttagattt ttttccccca ccaggtggtt tttgacactc
     2041 tctgagagga ccggagtgga agatgggtgg gttaggggaa gggagaagca ttaggagggg
     2101 attaaaatcg atcatcgtgg ctcccatccc tttcccggga acaggaacac actaccagcc
     2161 agagagagga gaatgacagt ttgtcaagac atatttcctt ttgctttcca gagaaatttc
     2221 attttaattt ctaagtaatg atttctgctg ttatgaaagc aaagagaaag gatggaggca
     2281 aaataaaaaa aaatcacgtt tcaagaaatg ttaagctctt cttggaacaa gccccacctt
     2341 gctttccttg tgtagggcaa acccgctgtc ccccgcgcgc ctgggtggtc aggctgaggg
     2401 atttctacct cacactgtgc atttgcacag cagatagaaa gacttgttta tattaaacag
     2461 cttatttatg tatcaatatt agttggaagg accaggcgca gagcctctct ctgtgacatg
     2521 tgactctgtc aattgaagac aggacattaa aagagagcga gagagagaaa cagttcagat
     2581 tactgcacat gtggataaaa acaaaaacaa aaaaaaggag tggttcaaaa tgccattttt
     2641 gcacagtgtt aggaattaca aaatccacag aagatgttac ttgcacaaaa agaaattaaa
     2701 tattttttaa agggagaggg gctgggcaga tcttaaataa aattcaaact ctacttctgt
     2761 tgtctagtat gttattgagc taatgattca ttgggaaaat acctttttat actcctttat
     2821 catggtactg taactgtatc catattataa atataattat cttaaggatt ttttattttt
     2881 ttttatgtcc aagtgcccac gtgaatttgc tggtgaaagt tagcacttgt gtgtaaattc
     2941 tacttcctct tgtgtgtttt accaagtatt tatactctgg tgcaactaac tactgtgtga
     3001 ggaattggtc catgtgcaat aaataccaat gaagcacaa
//
LOCUS       NM_000685               2324 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens angiotensin II receptor type 1 (AGTR1), transcript
            variant 1, mRNA.
ACCESSION   NM_000685
VERSION     NM_000685.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2324)
  AUTHORS   Muscella A, Resta L, Cossa LG and Marsigliante S.
  TITLE     Immunolocalization of the AT-1R Ang II Receptor in Human Kidney
            Cancer
  JOURNAL   Biomolecules 13 (8), 1181 (2023)
   PUBMED   37627246
  REMARK    GeneRIF: Immunolocalization of the AT-1R Ang II Receptor in Human
            Kidney Cancer. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2324)
  AUTHORS   Zeng Y, Jiang Y, Huang Z, Li K and Zhou Y.
  TITLE     Association between AGTR1 (c.1166 A>C) Polymorphisms and Kidney
            Injury in Hypertension
  JOURNAL   Front Biosci (Landmark Ed) 28 (7), 146 (2023)
   PUBMED   37525908
  REMARK    GeneRIF: Association between AGTR1 (c.1166 A>C) Polymorphisms and
            Kidney Injury in Hypertension.
REFERENCE   3  (bases 1 to 2324)
  AUTHORS   Luo JY, Du GL, Hao YM, Liu F, Zhang T, Fang BB, Li XM, Gao XM and
            Yang YN.
  TITLE     AT1R gene rs389566 polymorphism contributes to MACCEs in
            hypertension patients
  JOURNAL   BMC Cardiovasc Disord 23 (1), 284 (2023)
   PUBMED   37270600
  REMARK    GeneRIF: AT1R gene rs389566 polymorphism contributes to MACCEs in
            hypertension patients. Erratum:[BMC Cardiovasc Disord. 2023 Jun
            30;23(1):334. PMID: 37391701] Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2324)
  AUTHORS   Forrester SJ, Booz GW, Sigmund CD, Coffman TM, Kawai T, Rizzo V,
            Scalia R and Eguchi S.
  TITLE     Angiotensin II Signal Transduction: An Update on Mechanisms of
            Physiology and Pathophysiology
  JOURNAL   Physiol Rev 98 (3), 1627-1738 (2018)
   PUBMED   29873596
  REMARK    Review article
REFERENCE   5  (bases 1 to 2324)
  AUTHORS   Kawai T, Forrester SJ, O'Brien S, Baggett A, Rizzo V and Eguchi S.
  TITLE     AT1 receptor signaling pathways in the cardiovascular system
  JOURNAL   Pharmacol Res 125 (Pt A), 4-13 (2017)
   PUBMED   28527699
  REMARK    Review article
REFERENCE   6  (bases 1 to 2324)
  AUTHORS   Takezako T, Unal H, Karnik SS and Node K.
  TITLE     Current topics in angiotensin II type 1 receptor research: Focus on
            inverse agonism, receptor dimerization and biased agonism
  JOURNAL   Pharmacol Res 123, 40-50 (2017)
   PUBMED   28648738
  REMARK    Review article
REFERENCE   7  (bases 1 to 2324)
  AUTHORS   Martin MM, Willardson BM, Burton GF, White CR, McLaughlin JN, Bray
            SM, Ogilvie JW Jr and Elton TS.
  TITLE     Human angiotensin II type 1 receptor isoforms encoded by messenger
            RNA splice variants are functionally distinct
  JOURNAL   Mol Endocrinol 15 (2), 281-293 (2001)
   PUBMED   11158334
REFERENCE   8  (bases 1 to 2324)
  AUTHORS   Guo DF, Furuta H, Mizukoshi M and Inagami T.
  TITLE     The genomic organization of human angiotensin II type 1 receptor
  JOURNAL   Biochem Biophys Res Commun 200 (1), 313-319 (1994)
   PUBMED   8166699
REFERENCE   9  (bases 1 to 2324)
  AUTHORS   Mauzy CA, Hwang O, Egloff AM, Wu LH and Chung FZ.
  TITLE     Cloning, expression, and characterization of a gene encoding the
            human angiotensin II type 1A receptor
  JOURNAL   Biochem Biophys Res Commun 186 (1), 277-284 (1992)
   PUBMED   1378723
REFERENCE   10  (bases 1 to 2324)
  AUTHORS   Curnow KM, Pascoe L and White PC.
  TITLE     Genetic analysis of the human type-1 angiotensin II receptor
  JOURNAL   Mol Endocrinol 6 (7), 1113-1118 (1992)
   PUBMED   1508224
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC068494.1, S77410.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000349243.8/ ENSP00000273430.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            regulatory uORF             :: PMID: 16504375
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC024897.23.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 10, 2020 this sequence version replaced NM_000685.4.
            Summary: Angiotensin II is a potent vasopressor hormone and a
            primary regulator of aldosterone secretion. It is an important
            effector controlling blood pressure and volume in the
            cardiovascular system. It acts through at least two types of
            receptors. This gene encodes the type 1 receptor which is thought
            to mediate the major cardiovascular effects of angiotensin II. This
            gene may play a role in the generation of reperfusion arrhythmias
            following restoration of blood flow to ischemic or infarcted
            myocardium. It was previously thought that a related gene, denoted
            as AGTR1B, existed; however, it is now believed that there is only
            one type 1 receptor gene in humans. Alternative splicing of this
            gene results in multiple transcript variants. [provided by RefSeq,
            Aug 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2324
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q24"
     gene            1..2324
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="angiotensin II receptor type 1"
                     /db_xref="GeneID:185"
                     /db_xref="HGNC:HGNC:336"
                     /db_xref="MIM:106165"
     misc_feature    23
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="Region: alternate transcription start site"
     regulatory      253..276
                     /regulatory_class="uORF"
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:16504375]"
                     /note="this uORF is predicted to encode a 7 aa peptide
                     (PMID:16504375)"
     misc_feature    282..284
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="upstream in-frame stop codon"
     regulatory      284..319
                     /regulatory_class="uORF"
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:16504375]"
                     /note="this uORF is predicted to encode a 11 aa peptide
                     (PMID:16504375)"
     CDS             357..1436
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="type-1B angiotensin II receptor; AT1 receptor"
                     /codon_start=1
                     /product="type-1 angiotensin II receptor"
                     /protein_id="NP_000676.1"
                     /db_xref="CCDS:CCDS3137.1"
                     /db_xref="GeneID:185"
                     /db_xref="HGNC:HGNC:336"
                     /db_xref="MIM:106165"
                     /translation="MILNSSTEDGIKRIQDDCPKAGRHNYIFVMIPTLYSIIFVVGIFG
                     NSLVVIVIYFYMKLKTVASVFLLNLALADLCFLLTLPLWAVYTAMEYRWPFGNYLCKIA
                     SASVSFNLYASVFLLTCLSIDRYLAIVHPMKSRLRRTMLVAKVTCIIIWLLAGLASLPA
                     IIHRNVFFIENTNITVCAFHYESQNSTLPIGLGLTKNILGFLFPFLIILTSYTLIWKAL
                     KKAYEIQKNKPRNDDIFKIIMAIVLFFFFSWIPHQIFTFLDVLIQLGIIRDCRIADIVD
                     TAMPITICIAYFNNCLNPLFYGFLGKKFKRYFLQLLKYIPPKAKSHSNLSTKMSTLSYR
                     PSDNVSSSTKKPAPCFEVE"
     misc_feature    366..368
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:19139490; propagated from
                     UniProtKB/Swiss-Prot (P30556.1); glycosylation site"
     misc_feature    432..521
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30556.1);
                     transmembrane region"
     misc_feature    540..623
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30556.1);
                     transmembrane region"
     misc_feature    651..731
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30556.1);
                     transmembrane region"
     misc_feature    780..851
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30556.1);
                     transmembrane region"
     misc_feature    882..884
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30639100,
                     ECO:0000269|PubMed:32079768, ECO:0007744|PDB:6DO1,
                     ECO:0007744|PDB:6OS0; propagated from UniProtKB/Swiss-Prot
                     (P30556.1); glycosylation site"
     misc_feature    918..920
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30556.1); glycosylation site"
     misc_feature    927..1004
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30556.1);
                     transmembrane region"
     misc_feature    1074..1160
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30556.1);
                     transmembrane region"
     misc_feature    1191..1268
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30556.1);
                     transmembrane region"
     misc_feature    1359..1433
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P30556.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2304..2309
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="hexamer: AATAAA"
     polyA_site      2324
                     /gene="AGTR1"
                     /gene_synonym="AG2S; AGTR1B; AT1; AT1AR; AT1B; AT1BR; AT1R;
                     AT2R1; ATR1; HAT1R"
                     /note="major polyA site"
ORIGIN
        1 attccagcgc ctgacagcca ggaccccagg cagcagcgag tgacaggacg tctggaccgg
       61 cgcgccgcta gcagctctgc cgggccgcgg cggtgatcga tggggagcgg ctggagcgga
      121 cccagcgagt gagggcgcac agccgggacg ccgaggcggc gggcgggaga cccgcaccag
      181 cgcagccggc cctcggcggg acgtgacgca gcgcccgggg cgcgggtttg atatttgaca
      241 aattgatcta aaatggctgg gtttttatct gaataactca ctgatgccat cccagaaagt
      301 cggcaccagg tgtatttgat atagtgtttg caacaaattc gacccaggtg atcaaaatga
      361 ttctcaactc ttctactgaa gatggtatta aaagaatcca agatgattgt cccaaagctg
      421 gaaggcataa ttacatattt gtcatgattc ctactttata cagtatcatc tttgtggtgg
      481 gaatatttgg aaacagcttg gtggtgatag tcatttactt ttatatgaag ctgaagactg
      541 tggccagtgt ttttcttttg aatttagcac tggctgactt atgcttttta ctgactttgc
      601 cactatgggc tgtctacaca gctatggaat accgctggcc ctttggcaat tacctatgta
      661 agattgcttc agccagcgtc agtttcaacc tgtacgctag tgtgtttcta ctcacgtgtc
      721 tcagcattga tcgatacctg gctattgttc acccaatgaa gtcccgcctt cgacgcacaa
      781 tgcttgtagc caaagtcacc tgcatcatca tttggctgct ggcaggcttg gccagtttgc
      841 cagctataat ccatcgaaat gtatttttca ttgagaacac caatattaca gtttgtgctt
      901 tccattatga gtcccaaaat tcaaccctcc cgatagggct gggcctgacc aaaaatatac
      961 tgggtttcct gtttcctttt ctgatcattc ttacaagtta tactcttatt tggaaggccc
     1021 taaagaaggc ttatgaaatt cagaagaaca aaccaagaaa tgatgatatt tttaagataa
     1081 ttatggcaat tgtgcttttc tttttctttt cctggattcc ccaccaaata ttcacttttc
     1141 tggatgtatt gattcaacta ggcatcatac gtgactgtag aattgcagat attgtggaca
     1201 cggccatgcc tatcaccatt tgtatagctt attttaacaa ttgcctgaat cctctttttt
     1261 atggctttct ggggaaaaaa tttaaaagat attttctcca gcttctaaaa tatattcccc
     1321 caaaagccaa atcccactca aacctttcaa caaaaatgag cacgctttcc taccgcccct
     1381 cagataatgt aagctcatcc accaagaagc ctgcaccatg ttttgaggtt gagtgacatg
     1441 ttcgaaacct gtccataaag taattttgtg aaagaaggag caagagaaca ttcctctgca
     1501 gcacttcact accaaatgag cattagctac ttttcagaat tgaaggagaa aatgcattat
     1561 gtggactgaa ccgacttttc taaagctctg aacaaaagct tttctttcct tttgcaacaa
     1621 gacaaagcaa agccacattt tgcattagac agatgacggc tgctcgaaga acaatgtcag
     1681 aaactcgatg aatgtgttga tttgagaaat tttactgaca gaaatgcaat ctccctagcc
     1741 tgcttttgtc ctgttatttt ttatttccac ataaaggtat ttagaatata ttaaatcgtt
     1801 agaggagcaa caggagatga gagttccaga ttgttctgtc cagtttccaa agggcagtaa
     1861 agttttcgtg ccggttttca gctattagca actgtgctac acttgcacct ggtactgcac
     1921 attttgtaca aagatatgct aagcagtagt cgtcaagttg cagatctttt tgtgaaattc
     1981 aacctgtgtc ttataggttt ccactgccaa aacaatgccc gtaagatggc ttatttgtat
     2041 aatggtgtta ctaaagtcac atataaaagt taaactactt gtaaaggtgc tgcactggtc
     2101 ccaagtagta gtgtcttcct agtatattag tttgatttaa tatctgagaa gtgtatatag
     2161 tttgtggtaa aaagattata tatcataaag tatgccttcc tgtttaaaaa aagtatatat
     2221 tctacacata tatgtatatg tatatctata tctctaaact gctgttaatt gattaaaatc
     2281 tggcaaagtt atatttactt taaaataaaa taattttatt gcaa
//
LOCUS       NM_000686               2862 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens angiotensin II receptor type 2 (AGTR2), transcript
            variant 1, mRNA.
ACCESSION   NM_000686
VERSION     NM_000686.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2862)
  AUTHORS   Wang L, Rossi RM, Chen X, Chen J, Runyon J, Chawla M, Miller D,
            Forney C, Lynch A, Zhang X, Kong F, Jacobsson B, Kottyan LC,
            Weirauch MT, Zhang G and Muglia LJ.
  TITLE     A functional mechanism for a non-coding variant near AGTR2
            associated with risk for preterm birth
  JOURNAL   BMC Med 21 (1), 258 (2023)
   PUBMED   37455310
  REMARK    GeneRIF: A functional mechanism for a non-coding variant near AGTR2
            associated with risk for preterm birth. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2862)
  AUTHORS   Liu J, Jin B, Lu J, Feng Y, Li N, Wan C, Zhang QY and Jiang CM.
  TITLE     Angiotensin II type 2 receptor prevents extracellular matrix
            accumulation in human peritoneal mesothelial cell by ameliorating
            lipid disorder via LOX-1 suppression
  JOURNAL   Ren Fail 44 (1), 1687-1697 (2022)
   PUBMED   36226438
  REMARK    GeneRIF: Angiotensin II type 2 receptor prevents extracellular
            matrix accumulation in human peritoneal mesothelial cell by
            ameliorating lipid disorder via LOX-1 suppression.
REFERENCE   3  (bases 1 to 2862)
  AUTHORS   Jevnikar K, Lapajne L, Petrovic D, Meglic A, Logar M, Vidovic
            Valentincic N, Globocnik Petrovic M, Cilensek I and Mekjavic PJ.
  TITLE     The Role of ACE, ACE2, and AGTR2 Polymorphisms in COVID-19 Severity
            and the Presence of COVID-19-Related Retinopathy
  JOURNAL   Genes (Basel) 13 (7), 1111 (2022)
   PUBMED   35885894
  REMARK    GeneRIF: The Role of ACE, ACE2, and AGTR2 Polymorphisms in COVID-19
            Severity and the Presence of COVID-19-Related Retinopathy.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2862)
  AUTHORS   Mishra JS, Chen DB and Kumar S.
  TITLE     AT2R activation increases in vitro angiogenesis in pregnant human
            uterine artery endothelial cells
  JOURNAL   PLoS One 17 (4), e0267826 (2022)
   PUBMED   35486619
  REMARK    GeneRIF: AT2R activation increases in vitro angiogenesis in pregnant
            human uterine artery endothelial cells. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 2862)
  AUTHORS   Munro MJ, Peng L, Wickremesekera SK and Tan ST.
  TITLE     Colon adenocarcinoma-derived cells possessing stem cell function can
            be modulated using renin-angiotensin system inhibitors
  JOURNAL   PLoS One 16 (8), e0256280 (2021)
   PUBMED   34428252
  REMARK    GeneRIF: Colon adenocarcinoma-derived cells possessing stem cell
            function can be modulated using renin-angiotensin system inhibitors.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2862)
  AUTHORS   Ichiki T, Labosky PA, Shiota C, Okuyama S, Imagawa Y, Fogo A,
            Niimura F, Ichikawa I, Hogan BL and Inagami T.
  TITLE     Effects on blood pressure and exploratory behaviour of mice lacking
            angiotensin II type-2 receptor
  JOURNAL   Nature 377 (6551), 748-750 (1995)
   PUBMED   7477267
REFERENCE   7  (bases 1 to 2862)
  AUTHORS   Hein L, Barsh GS, Pratt RE, Dzau VJ and Kobilka BK.
  TITLE     Behavioural and cardiovascular effects of disrupting the angiotensin
            II type-2 receptor in mice
  JOURNAL   Nature 377 (6551), 744-747 (1995)
   PUBMED   7477266
  REMARK    Erratum:[Nature 1996 Mar 28;380(6572):366]
REFERENCE   8  (bases 1 to 2862)
  AUTHORS   Lazard D, Briend-Sutren MM, Villageois P, Mattei MG, Strosberg AD
            and Nahmias C.
  TITLE     Molecular characterization and chromosome localization of a human
            angiotensin II AT2 receptor gene highly expressed in fetal tissues
  JOURNAL   Recept Channels 2 (4), 271-280 (1994)
   PUBMED   7719706
REFERENCE   9  (bases 1 to 2862)
  AUTHORS   Takayanagi R, Ohnaka K, Sakai Y, Nakao R, Yanase T, Haji M, Inagami
            T, Furuta H, Gou DF, Nakamuta M et al.
  TITLE     Molecular cloning, sequence analysis and expression of a cDNA
            encoding human type-1 angiotensin II receptor
  JOURNAL   Biochem Biophys Res Commun 183 (2), 910-916 (1992)
   PUBMED   1550596
REFERENCE   10  (bases 1 to 2862)
  AUTHORS   Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M and Kaziro Y.
  TITLE     Presence of three distinct molecular species of Gi protein alpha
            subunit. Structure of rat cDNAs and human genomic DNAs
  JOURNAL   J Biol Chem 263 (14), 6656-6664 (1988)
   PUBMED   2834384
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DA537585.1, SRR1660803.233098.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2142363 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related         :: relevant for disease process
            MANE Ensembl match          :: ENST00000371906.5/ ENSP00000360973.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA538369.1, CR738498.1,
            U16957.1, BC095504.1, AL732602.5 and AI911273.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000686.4.
            Summary: The protein encoded by this gene belongs to the G-protein
            coupled receptor 1 family, and functions as a receptor for
            angiotensin II. It is an intergral membrane protein that is highly
            expressed in fetus and in neonates, but scantily in adult tissues,
            except brain, adrenal medulla, and atretic ovary. This receptor has
            been shown to mediate programmed cell death and this apoptotic
            function may play an important role in developmental biology and
            pathophysiology. Mutations in this gene are been associated with
            X-linked cognitive disability. Severe Acute Respiratory Syndrome
            Coronavirus (SARS-CoV) and SARS-CoV-2 infection results in
            down-regulation of angiotensin converting enzyme-2 (ACE2)
            receptors, the effects of which, triggers serious inflammatory
            lesions in the tissues involved, primarily in the lungs. The
            inflammatory reaction appears to be mediated by angiotensin II
            derivatives, including the angiotensin AT2 receptor which has been
            found to be upregulated in bronchoalveolar lavage samples from
            Coronavirus disease 2019 (COVID19) patients. [provided by RefSeq,
            Jul 2020].
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2862
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq23"
     gene            1..2862
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="angiotensin II receptor type 2"
                     /db_xref="GeneID:186"
                     /db_xref="HGNC:HGNC:338"
                     /db_xref="MIM:300034"
     misc_feature    157..159
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="upstream in-frame stop codon"
     CDS             169..1260
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="isoform 1 is encoded by transcript variant 1; type-2
                     angiotensin II receptor; angiotensin II type-2 receptor;
                     AT2 receptor"
                     /codon_start=1
                     /product="type-2 angiotensin II receptor isoform 1"
                     /protein_id="NP_000677.2"
                     /db_xref="CCDS:CCDS14569.1"
                     /db_xref="GeneID:186"
                     /db_xref="HGNC:HGNC:338"
                     /db_xref="MIM:300034"
                     /translation="MKGNSTLATTSKNITSGLHFGLVNISGNNESTLNCSQKPSDKHLD
                     AIPILYYIIFVIGFLVNIVVVTLFCCQKGPKKVSSIYIFNLAVADLLLLATLPLWATYY
                     SYRYDWLFGPVMCKVFGSFLTLNMFASIFFITCMSVDRYQSVIYPFLSQRRNPWQASYI
                     VPLVWCMACLSSLPTFYFRDVRTIEYLGVNACIMAFPPEKYAQWSAGIALMKNILGFII
                     PLIFIATCYFGIRKHLLKTNSYGKNRITRDQVLKMAAAVVLAFIICWLPFHVLTFLDAL
                     AWMGVINSCEVIAVIDLALPFAILLGFTNSCVNPFLYCFVGNRFQQKLRSVFRVPITWL
                     QGKRESMSCRKSSSLREMETFVS"
     misc_feature    178..180
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P50052.1); glycosylation site"
     misc_feature    205..207
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P50052.1); glycosylation site"
     misc_feature    238..240
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P50052.1); glycosylation site"
     misc_feature    253..255
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P50052.1); glycosylation site"
     misc_feature    268..270
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P50052.1); glycosylation site"
     misc_feature    304..378
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="propagated from UniProtKB/Swiss-Prot (P50052.1);
                     transmembrane region"
     misc_feature    409..480
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="propagated from UniProtKB/Swiss-Prot (P50052.1);
                     transmembrane region"
     misc_feature    511..588
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="propagated from UniProtKB/Swiss-Prot (P50052.1);
                     transmembrane region"
     misc_feature    646..711
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="propagated from UniProtKB/Swiss-Prot (P50052.1);
                     transmembrane region"
     misc_feature    787..864
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="propagated from UniProtKB/Swiss-Prot (P50052.1);
                     transmembrane region"
     misc_feature    940..1011
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="propagated from UniProtKB/Swiss-Prot (P50052.1);
                     transmembrane region"
     misc_feature    1051..1128
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="propagated from UniProtKB/Swiss-Prot (P50052.1);
                     transmembrane region"
     misc_feature    1138..1167
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="propagated from UniProtKB/Swiss-Prot (P50052.1);
                     Region: Helix VIII. /evidence=ECO:0000269|PubMed:28379944"
     regulatory      2838..2843
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="hexamer: AATAAA"
     polyA_site      2862
                     /gene="AGTR2"
                     /gene_synonym="AT2; ATGR2; MRX88"
                     /note="major polyA site"
ORIGIN
        1 gctattacgt cccagcgtct gagagaacga gtaagcacag aattcaaagc attctgcagc
       61 ctgaattttg aaggagtgtg tttaggcact aagcaagctg atttatgata actgctttaa
      121 acttcaacaa ccaaaggcat aagaactagg agctgctgac atttcaatat gaagggcaac
      181 tccacccttg ccactactag caaaaacatt accagcggtc ttcacttcgg gcttgtgaac
      241 atctctggca acaatgagtc taccttgaac tgttcacaga aaccatcaga taagcattta
      301 gatgcaattc ctattcttta ctacattata tttgtaattg gatttctggt caatattgtc
      361 gtggttacac tgttttgttg tcaaaagggt cctaaaaagg tttctagcat atacatcttc
      421 aacctcgctg tggctgattt actccttttg gctactcttc ctctatgggc aacctattat
      481 tcttatagat atgactggct ctttggacct gtgatgtgca aagtttttgg ttcttttctt
      541 accctgaaca tgtttgcaag catttttttt atcacctgca tgagtgttga taggtaccaa
      601 tctgtcatct acccctttct gtctcaaaga agaaatccct ggcaagcatc ttatatagtt
      661 ccccttgttt ggtgtatggc ctgtttgtcc tcattgccaa cattttattt tcgagacgtc
      721 agaaccattg aatacttagg agtgaatgct tgcattatgg ctttcccacc tgagaaatat
      781 gcccaatggt cagctgggat tgccttaatg aaaaatatcc ttggttttat tatcccttta
      841 atattcatag caacatgcta ttttggaatt agaaaacact tactgaagac gaatagctat
      901 gggaagaaca ggataacccg tgaccaagtc ctgaagatgg cagctgctgt tgttctggcc
      961 ttcatcattt gctggcttcc cttccatgtt ctgaccttcc tggatgctct ggcctggatg
     1021 ggtgtcatta atagctgcga agttatagca gtcattgacc tggcacttcc ttttgccatc
     1081 ctcttgggat tcaccaacag ctgcgttaat ccgtttctgt attgttttgt tggaaaccgg
     1141 ttccaacaga agctccgcag tgtgtttagg gttccaatta cttggctcca agggaaaaga
     1201 gagagtatgt cttgccggaa aagcagttct cttagagaaa tggagacctt tgtgtcttaa
     1261 acgtgagagc aaaatgcatg taatcaacat ggctacttgc tttgaggctc accagaatta
     1321 tttttaagtg gttttaataa aataataaaa tttcccctaa tcttttctga atcttctgaa
     1381 accaaatgta actatgtttt atcgtccagt gactttcagg aattgcccat tgtttttctg
     1441 atatgtttgt acaagattgt cattagtgag acatatttac aacctagaag taactggtga
     1501 tatatctcaa attgtaatta ataatagatt gtgaataatg atttggggat tcagatttct
     1561 ctttgaaaca tgcttgtgtt tcttagtggg gttttatatc catttttatc aggatttcct
     1621 cttgaaccag aaccagtctt tcaactcatt gcatcattta caagacaaca ttgtaagaga
     1681 gatgagcact tctaagttga gtatattata atagattagt actggattat tcaggcttta
     1741 ggcatatgct tctttaaaaa agctataaat tatattcctc ttgcatttca cttgagtgga
     1801 ggtttatagt taatctataa ctacatattg aatagggcta ggaatataga ttaaatcata
     1861 ctcctatgct ttagcttatt tttacagtta tagaaagcaa gatgtactat aacatagaat
     1921 tgcaatctat aatatttgtg tgttcactaa actctgaata agcacttttt aaaaaacttt
     1981 ctactcattt taatgattgt ttaaaggttt ctattttctc tgatactttt ttgaaatcag
     2041 taaacactgt gtattgttgt aaaatgtaaa ggtcactttt cacatccttg actttttaga
     2101 tgtgctgctt tgatatatag gacattgatt tgatttttat tattaatgct ttggttctgg
     2161 gttgtttcct aaaatatctg ggtggcttaa aaaaaactct ttaacttgta ataaaccctt
     2221 aactggcata ggaaatggta tccagaatgg aattttgcta catggggtct gggtgggggc
     2281 aaagagaccc agtcaattac atgtttggta ccaagaaagg aacctgtcag ggcagtacaa
     2341 tgtgactttg aaaatatata ccgtgggggt agttttaccc tatatctata aacactgttt
     2401 gttccagaat ctgtatgatt ctatggagct attttaaacc aattgcaggt ctagatacct
     2461 ccttctcagc actattaaag ctcctaagtt agaggagtgc ctaaaactga gttacctaaa
     2521 gtttacttac attaaagtat gaatattaat tttagaaatt tgagacttta ttctgtacca
     2581 gccctgtata ataacaggtt atctaggacc ttcctctgag gtaggtctaa atactgatct
     2641 ctgaggcgga actaacgttt tggggactca gcatctctgc caggttccag gattatagac
     2701 agaagagtcc tgtcatacca ctttctggaa aagtcctaat ttcatgtaat ccttttattt
     2761 tcaataaaaa caaatagcta aatgtataac caactatgat gttatgtttt caataatttt
     2821 gtaaaacagc tcatataaat aaaattttta attggaagaa ca
//
LOCUS       NM_000687               2150 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1,
            mRNA.
ACCESSION   NM_000687
VERSION     NM_000687.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2150)
  AUTHORS   Vande Voorde J, Steven RT, Najumudeen AK, Ford CA, Dexter A,
            Gonzalez-Fernandez A, Nikula CJ, Xiang Y, Ford L, Maneta Stavrakaki
            S, Gilroy K, Zeiger LB, Pennel K, Hatthakarnkul P, Elia EA, Nasif A,
            Murta T, Manoli E, Mason S, Gillespie M, Lannagan TRM, Vlahov N,
            Ridgway RA, Nixon C, Raven A, Mills M, Athineos D, Kanellos G,
            Nourse C, Gay DM, Hughes M, Burton A, Yan B, Sellers K, Wu V, De
            Ridder K, Shokry E, Huerta Uribe A, Clark W, Clark G, Kirschner K,
            Thienpont B, Li VSW, Maddocks ODK, Barry ST, Goodwin RJA, Kinross J,
            Edwards J, Yuneva MO, Sumpton D, Takats Z, Campbell AD, Bunch J and
            Sansom OJ.
  TITLE     Metabolic profiling stratifies colorectal cancer and reveals
            adenosylhomocysteinase as a therapeutic target
  JOURNAL   Nat Metab 5 (8), 1303-1318 (2023)
   PUBMED   37580540
  REMARK    GeneRIF: Metabolic profiling stratifies colorectal cancer and
            reveals adenosylhomocysteinase as a therapeutic target.
REFERENCE   2  (bases 1 to 2150)
  AUTHORS   Liu Z, Wang A, Pu Y, Li Z, Xue R, Zhang C, Xiang X, E JY, Bu Z, Bai
            F and Ji J.
  TITLE     Genomic and transcriptomic profiling of hepatoid adenocarcinoma of
            the stomach
  JOURNAL   Oncogene 40 (38), 5705-5717 (2021)
   PUBMED   34326469
  REMARK    GeneRIF: Genomic and transcriptomic profiling of hepatoid
            adenocarcinoma of the stomach.
REFERENCE   3  (bases 1 to 2150)
  AUTHORS   Tang M, Zeng L, Zeng Z, Liu J, Yuan J, Wu D, Lu Y, Zi J and Ye M.
  TITLE     Proteomics study of colorectal cancer and adenomatous polyps
            identifies TFR1, SAHH, and HV307 as potential biomarkers for
            screening
  JOURNAL   J Proteomics 243, 104246 (2021)
   PUBMED   33915303
  REMARK    GeneRIF: Proteomics study of colorectal cancer and adenomatous
            polyps identifies TFR1, SAHH, and HV307 as potential biomarkers for
            screening.
REFERENCE   4  (bases 1 to 2150)
  AUTHORS   Mitachi K, Ariake K, Shima H, Sato S, Miura T, Maeda S, Ishida M,
            Mizuma M, Ohtsuka H, Kamei T, Igarashi K and Unno M.
  TITLE     Novel candidate factors predicting the effect of S-1 adjuvant
            chemotherapy of pancreatic cancer
  JOURNAL   Sci Rep 11 (1), 6541 (2021)
   PUBMED   33753854
  REMARK    GeneRIF: Novel candidate factors predicting the effect of S-1
            adjuvant chemotherapy of pancreatic cancer. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 2150)
  AUTHORS   Li X, Bu S, Pan RR, Zhou C, Qu K, Ying X, Zhong J, Xiao J, Yuan Q,
            Zhang S, Tipton L, Wang Y, Deng Y and Duan S.
  TITLE     The values of AHCY and CBS promoter methylation on the diagnosis of
            cerebral infarction in Chinese Han population
  JOURNAL   BMC Med Genomics 13 (1), 163 (2020)
   PUBMED   33138824
  REMARK    GeneRIF: The values of AHCY and CBS promoter methylation on the
            diagnosis of cerebral infarction in Chinese Han population.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2150)
  AUTHORS   Coulter-Karis DE and Hershfield MS.
  TITLE     Sequence of full length cDNA for human S-adenosylhomocysteine
            hydrolase
  JOURNAL   Ann Hum Genet 53 (2), 169-175 (1989)
   PUBMED   2596825
REFERENCE   7  (bases 1 to 2150)
  AUTHORS   Arredondo-Vega FX, Charlton JA, Edwards YH, Hopkinson DA and
            Whitehouse DB.
  TITLE     Isozyme and DNA analysis of human S-adenosyl-L-homocysteine
            hydrolase (AHCY)
  JOURNAL   Ann Hum Genet 53 (2), 157-167 (1989)
   PUBMED   2574561
REFERENCE   8  (bases 1 to 2150)
  AUTHORS   Bissbort,S., Bender,K., Wienker,T.F. and Grzeschik,K.H.
  TITLE     Genetics of human S-adenosylhomocysteine hydrolase. A new
            polymorphism in man
  JOURNAL   Hum Genet 65 (1), 68-71 (1983)
   PUBMED   6580258
REFERENCE   9  (bases 1 to 2150)
  AUTHORS   Hershfield,M.S.
  TITLE     Apparent suicide inactivation of human lymphoblast
            S-adenosylhomocysteine hydrolase by 2'-deoxyadenosine and adenine
            arabinoside. A basis for direct toxic effects of analogs of
            adenosine
  JOURNAL   J Biol Chem 254 (1), 22-25 (1979)
   PUBMED   309884
REFERENCE   10  (bases 1 to 2150)
  AUTHORS   Hershfield,M.S. and Krodich,N.M.
  TITLE     S-adenosylhomocysteine hydrolase is an adenosine-binding protein: a
            target for adenosine toxicity
  JOURNAL   Science 202 (4369), 757-760 (1978)
   PUBMED   715439
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.232100.1,
            SRR3476690.1038970.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000217426.7/ ENSP00000217426.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290422.1, AK097610.1 and
            AI057366.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000687.3.
            Summary: S-adenosylhomocysteine hydrolase belongs to the
            adenosylhomocysteinase family. It catalyzes the reversible
            hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado)
            and L-homocysteine (Hcy). Thus, it regulates the intracellular
            S-adenosylhomocysteine (SAH) concentration thought to be important
            for transmethylation reactions. Deficiency in this protein is one
            of the different causes of hypermethioninemia. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jun 2009].
            Transcript Variant: This variant (1) encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2150
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.22"
     gene            1..2150
                     /gene="AHCY"
                     /gene_synonym="adoHcyase; SAHH"
                     /note="adenosylhomocysteinase"
                     /db_xref="GeneID:191"
                     /db_xref="HGNC:HGNC:343"
                     /db_xref="MIM:180960"
     CDS             86..1384
                     /gene="AHCY"
                     /gene_synonym="adoHcyase; SAHH"
                     /EC_number="3.13.2.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     S-adenosylhomocysteine hydrolase; S-adenosyl-L-homocysteine
                     hydrolase; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="adenosylhomocysteinase isoform 1"
                     /protein_id="NP_000678.1"
                     /db_xref="CCDS:CCDS13233.1"
                     /db_xref="GeneID:191"
                     /db_xref="HGNC:HGNC:343"
                     /db_xref="MIM:180960"
                     /translation="MSDKLPYKVADIGLAAWGRKALDIAENEMPGLMRMRERYSASKPL
                     KGARIAGCLHMTVETAVLIETLVTLGAEVQWSSCNIFSTQDHAAAAIAKAGIPVYAWKG
                     ETDEEYLWCIEQTLYFKDGPLNMILDDGGDLTNLIHTKYPQLLPGIRGISEETTTGVHN
                     LYKMMANGILKVPAINVNDSVTKSKFDNLYGCRESLIDGIKRATDVMIAGKVAVVAGYG
                     DVGKGCAQALRGFGARVIITEIDPINALQAAMEGYEVTTMDEACQEGNIFVTTTGCIDI
                     ILGRHFEQMKDDAIVCNIGHFDVEIDVKWLNENAVEKVNIKPQVDRYRLKNGRRIILLA
                     EGRLVNLGCAMGHPSFVMSNSFTNQVMAQIELWTHPDKYPVGVHFLPKKLDEAVAEAHL
                     GKLNVKLTKLTEKQAQYLGMSCDGPFKPDHYRY"
     misc_feature    89..91
                     /gene="AHCY"
                     /gene_synonym="adoHcyase; SAHH"
                     /note="N-acetylserine. /evidence=ECO:0000269|Ref.8;
                     propagated from UniProtKB/Swiss-Prot (P23526.4);
                     acetylation site"
     misc_feature    632..634
                     /gene="AHCY"
                     /gene_synonym="adoHcyase; SAHH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23526.4); phosphorylation site"
     misc_feature    662..664
                     /gene="AHCY"
                     /gene_synonym="adoHcyase; SAHH"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P50247; propagated from
                     UniProtKB/Swiss-Prot (P23526.4); phosphorylation site"
     regulatory      2128..2133
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AHCY"
                     /gene_synonym="adoHcyase; SAHH"
                     /note="hexamer: AATAAA"
     polyA_site      2150
                     /gene="AHCY"
                     /gene_synonym="adoHcyase; SAHH"
                     /note="major polyA site"
ORIGIN
        1 ccctgctcgg cgctgcccgc ccagttcctg ttcccagact gaggcccagc ccccttcgcc
       61 cgtttccatc acgagtgccg ccagcatgtc tgacaaactg ccctacaaag tcgccgacat
      121 cggcctggct gcctggggac gcaaggccct ggacattgct gagaacgaga tgccgggcct
      181 gatgcgtatg cgggagcggt actcggcctc caagccactg aagggcgccc gcatcgctgg
      241 ctgcctgcac atgaccgtgg agacggccgt cctcattgag accctcgtca ccctgggtgc
      301 tgaggtgcag tggtccagct gcaacatctt ctccacccag gaccatgcgg cggctgccat
      361 tgccaaggct ggcattccgg tgtatgcctg gaagggcgaa acggacgagg agtacctgtg
      421 gtgcattgag cagaccctgt acttcaagga cgggcccctc aacatgattc tggacgacgg
      481 gggcgacctc accaacctca tccacaccaa gtacccgcag cttctgccag gcatccgagg
      541 catctctgag gagaccacga ctggggtcca caacctctac aagatgatgg ccaatgggat
      601 cctcaaggtg cctgccatca atgtcaatga ctccgtcacc aagagcaagt ttgacaacct
      661 ctatggctgc cgggagtccc tcatagatgg catcaagcgg gccacagatg tgatgattgc
      721 cggcaaggta gcggtggtag caggctatgg tgatgtgggc aagggctgtg cccaggccct
      781 gcggggtttc ggagcccgcg tcatcatcac cgagattgac cccatcaacg cactgcaggc
      841 tgccatggag ggctatgagg tgaccaccat ggatgaggcc tgtcaggagg gcaacatctt
      901 tgtcaccacc acaggctgta ttgacatcat ccttggccgg cactttgagc agatgaagga
      961 tgatgccatt gtgtgtaaca ttggacactt tgacgtggag atcgatgtca agtggctcaa
     1021 cgagaacgcc gtggagaagg tgaacatcaa gccgcaggtg gaccggtatc ggttgaagaa
     1081 tgggcgccgc atcatcctgc tggccgaggg tcggctggtc aacctgggtt gtgccatggg
     1141 ccaccccagc ttcgtgatga gtaactcctt caccaaccag gtgatggcgc agatcgagct
     1201 gtggacccat ccagacaagt accccgttgg ggttcatttc ctgcccaaga agctggatga
     1261 ggcagtggct gaagcccacc tgggcaagct gaatgtgaag ttgaccaagc taactgagaa
     1321 gcaagcccag tacctgggca tgtcctgtga tggccccttc aagccggatc actaccgcta
     1381 ctgagagcca ggtctgcgtt tcaccctcca gctgctgtcc ttgcccaggc cccacctctc
     1441 ctccctaaga gctaatggca ccaactttgt gattggtttg tcagtgtccc ccatcgactc
     1501 tctggggctg atcacttagt ttttggcctc tgctgcagcc gtcatactgt tccaaatgtg
     1561 gcagcgggaa cagagtaccc tcttcaagcc ccggtcatga tggaggtccc agccacaggg
     1621 aaccatgagc tcagtggtct tggaacagct cactaagtca gtccttcctt agcctggaag
     1681 tcagtagtgg agtcacaaag cccatgtgtt ttgccatcta ggccttcacc tggtctgtgg
     1741 acttatacct gtgtgcttgg tttacaggtc cagtggttct tcagcccatg acagatgaga
     1801 aggggctata ttgaagggca aagaggaact gttgtttgaa ttttcctgag agcctggctt
     1861 agtgctgggc cttctcttaa acctcattac aatgaggtta gtacttttag tccctgtttt
     1921 acaggggtta gaatagactg ttaaggggca actgagaaag aacagagaag tgacagctag
     1981 gggttgagag gggccagaaa aacatgaatg caggcagatt tcgtgaaatc tgccaccact
     2041 ttataaccag atggttcctt tcacaaccct gggtcaaaaa gagaataatt tggcctataa
     2101 tgttaaaaga aagcaggaag gtgggtaaat aaaaatcttg gtgcctggaa
//
LOCUS       NM_000688               2375 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens 5'-aminolevulinate synthase 1 (ALAS1), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000688
VERSION     NM_000688.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2375)
  AUTHORS   Nomura K, Kitagawa Y, Aihara M, Ohki Y, Furuyama K and Hirokawa T.
  TITLE     Heme-dependent recognition of 5-aminolevulinate synthase by the
            human mitochondrial molecular chaperone ClpX
  JOURNAL   FEBS Lett 595 (24), 3019-3029 (2021)
   PUBMED   34704252
  REMARK    GeneRIF: Heme-dependent recognition of 5-aminolevulinate synthase by
            the human mitochondrial molecular chaperone ClpX.
REFERENCE   2  (bases 1 to 2375)
  AUTHORS   Lahiji AP, Anderson KE, Chan A, Simon A, Desnick RJ and Ramanujam
            VMS.
  TITLE     5-Aminolevulinate dehydratase porphyria: Update on hepatic
            5-aminolevulinic acid synthase induction and long-term response to
            hemin
  JOURNAL   Mol Genet Metab 131 (4), 418-423 (2020)
   PUBMED   33199206
  REMARK    GeneRIF: 5-Aminolevulinate dehydratase porphyria: Update on hepatic
            5-aminolevulinic acid synthase induction and long-term response to
            hemin.
REFERENCE   3  (bases 1 to 2375)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2375)
  AUTHORS   Zhao Y, Zhang X, Liu Y, Ma Y, Kong P, Bai T, Han M and Li B.
  TITLE     Inhibition of ALAS1 activity exerts anti-tumour effects on
            colorectal cancer in vitro
  JOURNAL   Saudi J Gastroenterol 26 (3), 144-152 (2020)
   PUBMED   32270771
  REMARK    GeneRIF: Inhibition of ALAS1 activity exerts anti-tumour effects on
            colorectal cancer in vitro.
REFERENCE   5  (bases 1 to 2375)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 2375)
  AUTHORS   Cotter PD, Drabkin HA, Varkony T, Smith DI and Bishop DF.
  TITLE     Assignment of the human housekeeping delta-aminolevulinate synthase
            gene (ALAS1) to chromosome band 3p21.1 by PCR analysis of somatic
            cell hybrids
  JOURNAL   Cytogenet Cell Genet 69 (3-4), 207-208 (1995)
   PUBMED   7698013
REFERENCE   7  (bases 1 to 2375)
  AUTHORS   Bishop DF.
  TITLE     Two different genes encode delta-aminolevulinate synthase in humans:
            nucleotide sequences of cDNAs for the housekeeping and erythroid
            genes
  JOURNAL   Nucleic Acids Res 18 (23), 7187-7188 (1990)
   PUBMED   2263504
REFERENCE   8  (bases 1 to 2375)
  AUTHORS   May BK, Bhasker CR, Bawden MJ and Cox TC.
  TITLE     Molecular regulation of 5-aminolevulinate synthase. Diseases related
            to heme biosynthesis
  JOURNAL   Mol Biol Med 7 (5), 405-421 (1990)
   PUBMED   2095458
  REMARK    Review article
REFERENCE   9  (bases 1 to 2375)
  AUTHORS   Bishop DF, Henderson AS and Astrin KH.
  TITLE     Human delta-aminolevulinate synthase: assignment of the housekeeping
            gene to 3p21 and the erythroid-specific gene to the X chromosome
  JOURNAL   Genomics 7 (2), 207-214 (1990)
   PUBMED   2347585
REFERENCE   10  (bases 1 to 2375)
  AUTHORS   Bawden MJ, Borthwick IA, Healy HM, Morris CP, May BK and Elliott WH.
  TITLE     Sequence of human 5-aminolevulinate synthase cDNA
  JOURNAL   Nucleic Acids Res 15 (20), 8563 (1987)
   PUBMED   3671094
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.314247.1,
            SRR1803615.95332.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000484952.6/ ENSP00000418779.1
            RefSeq Select criteria             :: based on conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AU279391.1, BC011798.2, CD014147.1, X56351.1 and AI868691.1.
            On Nov 22, 2018 this sequence version replaced NM_000688.5.
            Summary: This gene encodes the mitochondrial enzyme which is
            catalyzes the rate-limiting step in heme (iron-protoporphyrin)
            biosynthesis. The enzyme encoded by this gene is the housekeeping
            enzyme; a separate gene encodes a form of the enzyme that is
            specific for erythroid tissue. The level of the mature encoded
            protein is regulated by heme: high levels of heme down-regulate the
            mature enzyme in mitochondria while low heme levels up-regulate. A
            pseudogene of this gene is located on chromosome 12. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Jan 2015].
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2, and 3 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2375
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.2"
     gene            1..2375
                     /gene="ALAS1"
                     /gene_synonym="ALAS; ALAS-H; ALAS3; ALASH; MIG4"
                     /note="5'-aminolevulinate synthase 1"
                     /db_xref="GeneID:211"
                     /db_xref="HGNC:HGNC:396"
                     /db_xref="MIM:125290"
     misc_feature    249..251
                     /gene="ALAS1"
                     /gene_synonym="ALAS; ALAS-H; ALAS3; ALASH; MIG4"
                     /note="upstream in-frame stop codon"
     CDS             306..2228
                     /gene="ALAS1"
                     /gene_synonym="ALAS; ALAS-H; ALAS3; ALASH; MIG4"
                     /EC_number="2.3.1.37"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; 5-aminolevulinate synthase, nonspecific, mitochondrial;
                     migration-inducing protein 4; delta-ALA synthase 1;
                     5-aminolevulinic acid synthase 1; delta-aminolevulinate
                     synthase 1; aminolevulinate, delta-, synthase 1;
                     5-aminolevulinate synthase, non-specific, mitochondrial"
                     /codon_start=1
                     /product="5-aminolevulinate synthase, non-specific,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_000679.1"
                     /db_xref="CCDS:CCDS2847.1"
                     /db_xref="GeneID:211"
                     /db_xref="HGNC:HGNC:396"
                     /db_xref="MIM:125290"
                     /translation="MESVVRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPAP
                     RALSTAAVHYQQIKETPPASEKDKTAKAKVQQTPDGSQQSPDGTQLPSGHPLPATSQGT
                     ASKCPFLAAQMNQRGSSVFCKASLELQEDVQEMNAVRKEVAETSAGPSVVSVKTDGGDP
                     SGLLKNFQDIMQKQRPERVSHLLQDNLPKSVSTFQYDRFFEKKIDEKKNDHTYRVFKTV
                     NRRAHIFPMADDYSDSLITKKQVSVWCSNDYLGMSRHPRVCGAVMDTLKQHGAGAGGTR
                     NISGTSKFHVDLERELADLHGKDAALLFSSCFVANDSTLFTLAKMMPGCEIYSDSGNHA
                     SMIQGIRNSRVPKYIFRHNDVSHLRELLQRSDPSVPKIVAFETVHSMDGAVCPLEELCD
                     VAHEFGAITFVDEVHAVGLYGARGGGIGDRDGVMPKMDIISGTLGKAFGCVGGYIASTS
                     SLIDTVRSYAAGFIFTTSLPPMLLAGALESVRILKSAEGRVLRRQHQRNVKLMRQMLMD
                     AGLPVVHCPSHIIPVRVADAAKNTEVCDELMSRHNIYVQAINYPTVPRGEELLRIAPTP
                     HHTPQMMNYFLENLLVTWKQVGLELKPHSSAECNFCRRPLHFEVMSEREKSYFSGLSKL
                     VSAQA"
     transit_peptide 306..473
                     /gene="ALAS1"
                     /gene_synonym="ALAS; ALAS-H; ALAS3; ALASH; MIG4"
                     /note="Mitochondrion.
                     /evidence=ECO:0000250|UniProtKB:P07997; propagated from
                     UniProtKB/Swiss-Prot (P13196.2)"
     mat_peptide     474..2225
                     /gene="ALAS1"
                     /gene_synonym="ALAS; ALAS-H; ALAS3; ALASH; MIG4"
                     /product="5-aminolevulinate synthase, non-specific,
                     mitochondrial. /id=PRO_0000001230"
                     /note="propagated from UniProtKB/Swiss-Prot (P13196.2)"
     misc_feature    483..614
                     /gene="ALAS1"
                     /gene_synonym="ALAS; ALAS-H; ALAS3; ALASH; MIG4"
                     /note="propagated from UniProtKB/Swiss-Prot (P13196.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2031..2033
                     /gene="ALAS1"
                     /gene_synonym="ALAS; ALAS-H; ALAS3; ALASH; MIG4"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000269|PubMed:16234850; propagated from
                     UniProtKB/Swiss-Prot (P13196.2); hydroxylation site"
     regulatory      2316..2321
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALAS1"
                     /gene_synonym="ALAS; ALAS-H; ALAS3; ALASH; MIG4"
                     /note="hexamer: ATTAAA"
     regulatory      2333..2338
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALAS1"
                     /gene_synonym="ALAS; ALAS-H; ALAS3; ALASH; MIG4"
                     /note="hexamer: AGTAAA"
     polyA_site      2340
                     /gene="ALAS1"
                     /gene_synonym="ALAS; ALAS-H; ALAS3; ALASH; MIG4"
                     /note="major polyA site"
     regulatory      2353..2358
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALAS1"
                     /gene_synonym="ALAS; ALAS-H; ALAS3; ALASH; MIG4"
                     /note="hexamer: AATAAA"
     polyA_site      2358
                     /gene="ALAS1"
                     /gene_synonym="ALAS; ALAS-H; ALAS3; ALASH; MIG4"
                     /note="major polyA site"
     polyA_site      2375
                     /gene="ALAS1"
                     /gene_synonym="ALAS; ALAS-H; ALAS3; ALASH; MIG4"
ORIGIN
        1 aggctgctcc cggacaaggg caacgagcgt ttcgtttgga cttctcgact tgagtgcccg
       61 cctccttcgc cgccgcctct gcagtcctca gcgcagttat gcccagttct tcccgctgtg
      121 gggacacgac cacggaggaa tccttgcttc agggactcgg gaccctgctg gaccccttcc
      181 tcgggtttag gggatgtggg gaccaggaga aagtcaggat ccctaagagt cttccctgcc
      241 tggatggatg agtggcttct tctccaccta gattctttcc acaggagcca gcatacttcc
      301 tgaacatgga gagtgttgtt cgccgctgcc cattcttatc ccgagtcccc caggcctttc
      361 tgcagaaagc aggcaaatct ctgttgttct atgcccaaaa ctgccccaag atgatggaag
      421 ttggggccaa gccagcccct cgggcattgt ccactgcagc agtacactac caacagatca
      481 aagaaacccc tccggccagt gagaaagaca aaactgctaa ggccaaggtc caacagactc
      541 ctgatggatc ccagcagagt ccagatggca cacagcttcc gtctggacac cccttgcctg
      601 ccacaagcca gggcactgca agcaaatgcc ctttcctggc agcacagatg aatcagagag
      661 gcagcagtgt cttctgcaaa gccagtcttg agcttcagga ggatgtgcag gaaatgaatg
      721 ccgtgaggaa agaggttgct gaaacctcag caggccccag tgtggttagt gtgaaaaccg
      781 atggagggga tcccagtgga ctgctgaaga acttccagga catcatgcaa aagcaaagac
      841 cagaaagagt gtctcatctt cttcaagata acttgccaaa atctgtttcc acttttcagt
      901 atgatcgttt ctttgagaaa aaaattgatg agaaaaagaa tgaccacacc tatcgagttt
      961 ttaaaactgt gaaccggcga gcacacatct tccccatggc agatgactat tcagactccc
     1021 tcatcaccaa aaagcaagtg tcagtctggt gcagtaatga ctacctagga atgagtcgcc
     1081 acccacgggt gtgtggggca gttatggaca ctttgaaaca acatggtgct ggggcaggtg
     1141 gtactagaaa tatttctgga actagtaaat tccatgtgga cttagagcgg gagctggcag
     1201 acctccatgg gaaagatgcc gcactcttgt tttcctcgtg ctttgtggcc aatgactcaa
     1261 ccctcttcac cctggctaag atgatgccag gctgtgagat ttactctgat tctgggaacc
     1321 atgcctccat gatccaaggg attcgaaaca gccgagtgcc aaagtacatc ttccgccaca
     1381 atgatgtcag ccacctcaga gaactgctgc aaagatctga cccctcagtc cccaagattg
     1441 tggcatttga aactgtccat tcaatggatg gggcggtgtg cccactggaa gagctgtgtg
     1501 atgtggccca tgagtttgga gcaatcacct tcgtggatga ggtccacgca gtggggcttt
     1561 atggggctcg aggcggaggg attggggatc gggatggagt catgccaaaa atggacatca
     1621 tttctggaac acttggcaaa gcctttggtt gtgttggagg gtacatcgcc agcacgagtt
     1681 ctctgattga caccgtacgg tcctatgctg ctggcttcat cttcaccacc tctctgccac
     1741 ccatgctgct ggctggagcc ctggagtctg tgcggatcct gaagagcgct gagggacggg
     1801 tgcttcgccg ccagcaccag cgcaacgtca aactcatgag acagatgcta atggatgccg
     1861 gcctccctgt tgtccactgc cccagccaca tcatccctgt gcgggttgca gatgctgcta
     1921 aaaacacaga agtctgtgat gaactaatga gcagacataa catctacgtg caagcaatca
     1981 attaccctac ggtgccccgg ggagaagagc tcctacggat tgcccccacc cctcaccaca
     2041 caccccagat gatgaactac ttccttgaga atctgctagt cacatggaag caagtggggc
     2101 tggaactgaa gcctcattcc tcagctgagt gcaacttctg caggaggcca ctgcattttg
     2161 aagtgatgag tgaaagagag aagtcctatt tctcaggctt gagcaagttg gtatctgctc
     2221 aggcctgagc atgacctcaa ttatttcact taaccccagg ccattatcat atccagatgg
     2281 tcttcagagt tgtctttata tgtgaattaa gttatattaa attttaatct atagtaaaaa
     2341 catagtcctg gaaataaatt cttgcttaaa tggtg
//
LOCUS       NM_000689               2096 bp    mRNA    linear   PRI 19-JUN-2023
DEFINITION  Homo sapiens aldehyde dehydrogenase 1 family member A1 (ALDH1A1),
            mRNA.
ACCESSION   NM_000689
VERSION     NM_000689.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2096)
  AUTHORS   Dancik GM, Varisli L and Vlahopoulos SA.
  TITLE     The Molecular Context of Oxidant Stress Response in Cancer
            Establishes ALDH1A1 as a Critical Target: What This Means for Acute
            Myeloid Leukemia
  JOURNAL   Int J Mol Sci 24 (11), 9372 (2023)
   PUBMED   37298333
  REMARK    GeneRIF: The Molecular Context of Oxidant Stress Response in Cancer
            Establishes ALDH1A1 as a Critical Target: What This Means for Acute
            Myeloid Leukemia. Review article Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2096)
  AUTHORS   Izycka N, Rucinski M, Andrzejewska M, Szubert S, Nowak-Markwitz E
            and Sterzynska K.
  TITLE     The Prognostic Value of Cancer Stem Cell Markers (CSCs)
            Expression-ALDH1A1, CD133, CD44-For Survival and Long-Term Follow-Up
            of Ovarian Cancer Patients
  JOURNAL   Int J Mol Sci 24 (3), 2400 (2023)
   PUBMED   36768723
  REMARK    GeneRIF: The Prognostic Value of Cancer Stem Cell Markers (CSCs)
            Expression-ALDH1A1, CD133, CD44-For Survival and Long-Term Follow-Up
            of Ovarian Cancer Patients. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2096)
  AUTHORS   Wu Y, Kram H, Gempt J, Liesche-Starnecker F, Wu W and Schlegel J.
  TITLE     ALDH1-Mediated Autophagy Sensitizes Glioblastoma Cells to
            Ferroptosis
  JOURNAL   Cells 11 (24), 4015 (2022)
   PUBMED   36552781
  REMARK    GeneRIF: ALDH1-Mediated Autophagy Sensitizes Glioblastoma Cells to
            Ferroptosis. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2096)
  AUTHORS   Wang Y, Chen Y, Garcia-Milian R, Golla JP, Charkoftaki G, Lam TT,
            Thompson DC and Vasiliou V.
  TITLE     Proteomic profiling reveals an association between ALDH and
            oxidative phosphorylation and DNA damage repair pathways in human
            colon adenocarcinoma stem cells
  JOURNAL   Chem Biol Interact 368, 110175 (2022)
   PUBMED   36162455
  REMARK    GeneRIF: Proteomic profiling reveals an association between ALDH and
            oxidative phosphorylation and DNA damage repair pathways in human
            colon adenocarcinoma stem cells.
REFERENCE   5  (bases 1 to 2096)
  AUTHORS   Ge X, Li M, Song GX, Zhang Z, Yin J, Ge Z, Shi Z, Liu LZ, Jiang BH,
            Qian X and Shen H.
  TITLE     Chromium (VI)-induced ALDH1A1/EGF axis promotes lung cancer
            progression
  JOURNAL   Clin Transl Med 12 (12), e1136 (2022)
   PUBMED   36504325
  REMARK    GeneRIF: Chromium (VI)-induced ALDH1A1/EGF axis promotes lung cancer
            progression.
REFERENCE   6  (bases 1 to 2096)
  AUTHORS   Pereira F, Rosenmann E, Nylen E, Kaufman M, Pinsky L and Wrogemann
            K.
  TITLE     The 56 kDa androgen binding protein is an aldehyde dehydrogenase
  JOURNAL   Biochem Biophys Res Commun 175 (3), 831-838 (1991)
   PUBMED   1709013
REFERENCE   7  (bases 1 to 2096)
  AUTHORS   Hsu LC, Chang WC and Yoshida A.
  TITLE     Genomic structure of the human cytosolic aldehyde dehydrogenase gene
  JOURNAL   Genomics 5 (4), 857-865 (1989)
   PUBMED   2591967
REFERENCE   8  (bases 1 to 2096)
  AUTHORS   Agarwal DP, Cohn P, Goedde HW and Hempel J.
  TITLE     Aldehyde dehydrogenase from human erythrocytes: structural
            relationship to the liver cytosolic isozyme
  JOURNAL   Enzyme 42 (1), 47-52 (1989)
   PUBMED   2776714
REFERENCE   9  (bases 1 to 2096)
  AUTHORS   Inoue,K., Nishimukai,H. and Yamasawa,K.
  TITLE     Purification and partial characterization of aldehyde dehydrogenase
            from human erythrocytes
  JOURNAL   Biochim Biophys Acta 569 (2), 117-123 (1979)
   PUBMED   224930
REFERENCE   10  (bases 1 to 2096)
  AUTHORS   Harada,S., Agarwal,D.P. and Goedde,H.W.
  TITLE     Isozyme variations in acetaldehyde dehydrogenase (e.c.1.2.1.3) in
            human tissues
  JOURNAL   Hum Genet 44 (2), 181-185 (1978)
   PUBMED   730161
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: FJ224286.1, SRR3476690.103954.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2162895,
            SAMEA2467144 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000297785.8/ ENSP00000297785.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC398835.1, BC001505.2 and
            AI074764.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000689.4.
            Summary: The protein encoded by this gene belongs to the aldehyde
            dehydrogenase family. Aldehyde dehydrogenase is the next enzyme
            after alcohol dehydrogenase in the major pathway of alcohol
            metabolism. There are two major aldehyde dehydrogenase isozymes in
            the liver, cytosolic and mitochondrial, which are encoded by
            distinct genes, and can be distinguished by their electrophoretic
            mobility, kinetic properties, and subcellular localization. This
            gene encodes the cytosolic isozyme. Studies in mice show that
            through its role in retinol metabolism, this gene may also be
            involved in the regulation of the metabolic responses to high-fat
            diet. [provided by RefSeq, Mar 2011].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2096
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.13"
     gene            1..2096
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="aldehyde dehydrogenase 1 family member A1"
                     /db_xref="GeneID:216"
                     /db_xref="HGNC:HGNC:402"
                     /db_xref="MIM:100640"
     CDS             54..1559
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /EC_number="1.2.1.3"
                     /EC_number="1.2.1.19"
                     /EC_number="1.2.1.36"
                     /EC_number="1.2.1.28"
                     /note="retinaldehyde dehydrogenase 1; aldehyde
                     dehydrogenase 1, soluble; aldehyde dehydrogenase, liver
                     cytosolic; ALDH class 1; acetaldehyde dehydrogenase 1;
                     retinal dehydrogenase 1; ALHDII; RALDH 1; epididymis
                     luminal protein 12; epididymis secretory sperm binding
                     protein Li 53e; epididymis luminal protein 9;
                     3-deoxyglucosone dehydrogenase"
                     /codon_start=1
                     /product="aldehyde dehydrogenase 1A1"
                     /protein_id="NP_000680.2"
                     /db_xref="CCDS:CCDS6644.1"
                     /db_xref="GeneID:216"
                     /db_xref="HGNC:HGNC:402"
                     /db_xref="MIM:100640"
                     /translation="MSSSGTPDLPVLLTDLKIQYTKIFINNEWHDSVSGKKFPVFNPAT
                     EEELCQVEEGDKEDVDKAVKAARQAFQIGSPWRTMDASERGRLLYKLADLIERDRLLLA
                     TMESMNGGKLYSNAYLNDLAGCIKTLRYCAGWADKIQGRTIPIDGNFFTYTRHEPIGVC
                     GQIIPWNFPLVMLIWKIGPALSCGNTVVVKPAEQTPLTALHVASLIKEAGFPPGVVNIV
                     PGYGPTAGAAISSHMDIDKVAFTGSTEVGKLIKEAAGKSNLKRVTLELGGKSPCIVLAD
                     ADLDNAVEFAHHGVFYHQGQCCIAASRIFVEESIYDEFVRRSVERAKKYILGNPLTPGV
                     TQGPQIDKEQYDKILDLIESGKKEGAKLECGGGPWGNKGYFVQPTVFSNVTDEMRIAKE
                     EIFGPVQQIMKFKSLDDVIKRANNTFYGLSAGVFTKDIDKAITISSALQAGTVWVNCYG
                     VVSAQCPFGGFKMSGNGRELGEYGFHEYTEVKTVTVKISQKNS"
     misc_feature    57..59
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:6723659,
                     ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (P00352.2); acetylation site"
     misc_feature    324..326
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00352.2); acetylation site"
     misc_feature    435..437
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00352.2); acetylation site"
     misc_feature    561..563
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="Transition state stabilizer.
                     /evidence=ECO:0000250|UniProtKB:P20000; propagated from
                     UniProtKB/Swiss-Prot (P00352.2); other site"
     misc_feature    807..809
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00352.2); acetylation site"
     misc_feature    1059..1556
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="propagated from UniProtKB/Swiss-Prot (P00352.2);
                     Region: Mediates interaction with PRMT3.
                     /evidence=ECO:0000269|PubMed:33495566"
     misc_feature    1062..1064
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P00352.2); phosphorylation site"
     misc_feature    1110..1112
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00352.2); acetylation site"
     misc_feature    1152..1154
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00352.2); acetylation site"
     misc_feature    1281..1283
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00352.2); acetylation site"
     misc_feature    1290..1292
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P00352.2); phosphorylation site"
     misc_feature    1308..1310
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00352.2); acetylation site"
     misc_feature    1356..1358
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00352.2); acetylation site"
     misc_feature    1536..1538
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P00352.2); acetylation site"
     regulatory      2076..2081
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="hexamer: AATAAA"
     polyA_site      2096
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="major polyA site"
ORIGIN
        1 atcagaacca aattgctgag ccagtcacct gtgttccagg agccgaatca gaaatgtcat
       61 cctcaggcac gccagactta cctgtcctac tcaccgattt gaagattcaa tatactaaga
      121 tcttcataaa caatgaatgg catgattcag tgagtggcaa gaaatttcct gtctttaatc
      181 ctgcaactga ggaggagctc tgccaggtag aagaaggaga taaggaggat gttgacaagg
      241 cagtgaaggc cgcaagacag gcttttcaga ttggatcccc gtggcgtact atggatgctt
      301 ccgagagggg gcgactatta tacaagttgg ctgatttaat cgaaagagat cgtctgctgc
      361 tggcgacaat ggagtcaatg aatggtggaa aactctattc caatgcatat ctgaatgatt
      421 tagcaggctg catcaaaaca ttgcgctact gtgcaggttg ggctgacaag atccagggcc
      481 gtacaatacc aattgatgga aattttttta catatacaag acatgaacct attggtgtat
      541 gtggccaaat cattccttgg aatttcccgt tggttatgct catttggaag atagggcctg
      601 cactgagctg tggaaacaca gtggttgtca aaccagcaga gcaaactcct ctcactgctc
      661 tccacgtggc atctttaata aaagaggcag ggtttcctcc tggagtagtg aatattgttc
      721 ctggttatgg gcctacagca ggggcagcca tttcttctca catggatata gacaaagtag
      781 ccttcacagg atcaacagag gttggcaagt tgatcaaaga agctgccggg aaaagcaatc
      841 tgaagagggt gaccctggag cttggaggaa agagcccttg cattgtgtta gctgatgccg
      901 acttggacaa tgctgttgaa tttgcacacc atggggtatt ctaccaccag ggccagtgtt
      961 gtatagccgc atccaggatt tttgtggaag aatcaattta tgatgagttt gttcgaagga
     1021 gtgttgagcg ggctaagaag tatatccttg gaaatcctct gaccccagga gtcactcaag
     1081 gccctcagat tgacaaggaa caatatgata aaatacttga cctcattgag agtgggaaga
     1141 aagaaggggc caaactggaa tgtggaggag gcccgtgggg gaataaaggc tactttgtcc
     1201 agcccacagt gttctctaat gttacagatg agatgcgcat tgccaaagag gagatttttg
     1261 gaccagtgca gcaaatcatg aagtttaaat ctttagatga cgtgatcaaa agagcaaaca
     1321 atactttcta tggcttatca gcaggagtgt ttaccaaaga cattgataaa gccataacaa
     1381 tctcctctgc tctgcaggca ggaacagtgt gggtgaattg ctatggcgtg gtaagtgccc
     1441 agtgcccctt tggtggattc aagatgtctg gaaatggaag agaactggga gagtacggtt
     1501 tccatgaata tacagaggtc aaaacagtca cagtgaaaat ctctcagaag aactcataaa
     1561 gaaaatacaa gagtggagag aagctcttca atagctaagc atctccttac agtcactaat
     1621 atagtagatt ttaaagacaa aatttttctt ttcttgattt ttttaaacat aagctaaatc
     1681 atattagtat taatactacc catagaaaac ttgacatgta gcttcttctg aaagaattat
     1741 ttgccttctg aaatgtgacc cccaagtcct atcctaaata aaaaaagaca aattcggatg
     1801 tatgatctct ctagctttgt catagttatg tgattttcct ttgtagctac ttttgcagga
     1861 taataatttt atagaaaagg aacagttgca tttagcttct ttcccttagt gactcttgaa
     1921 gtacttaaca tacacgttaa ctgcagagta aattgctctg ttcccagtag ttataaagtc
     1981 cttggactgt tttgaaaagt ttcctaggat gtcatgtctg cttgtcaaaa gaaataatcc
     2041 ctgtaatatt tagctgtaaa ctgaatataa agcttaataa aaacaacctt gcatga
//
LOCUS       NM_000690               9561 bp    mRNA    linear   PRI 26-SEP-2023
DEFINITION  Homo sapiens aldehyde dehydrogenase 2 family member (ALDH2),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000690
VERSION     NM_000690.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9561)
  AUTHORS   Zhou T, Im PK, Hariri P, Du H, Guo Y, Lin K, Yang L, Yu C, Chen Y,
            Sohoni R, Avery D, Guan M, Yang M, Lv J, Clarke R, Li L, Walters RG,
            Chen Z and Millwood IY.
  CONSRTM   China Kadoorie Biobank Group
  TITLE     Associations of alcohol intake with subclinical carotid
            atherosclerosis in 22,000 Chinese adults
  JOURNAL   Atherosclerosis 377, 34-42 (2023)
   PUBMED   37392542
  REMARK    GeneRIF: Associations of alcohol intake with subclinical carotid
            atherosclerosis in 22,000 Chinese adults.
REFERENCE   2  (bases 1 to 9561)
  AUTHORS   Cai N, Li C, Gu X, Zeng W, Liu J, Zeng G, Zhong J, Zhu J and Hong H.
  TITLE     ALDH2 rs671 and MTHFR rs1801133 polymorphisms are risk factors for
            arteriosclerosis in multiple arteries
  JOURNAL   BMC Cardiovasc Disord 23 (1), 319 (2023)
   PUBMED   37355582
  REMARK    GeneRIF: ALDH2 rs671 and MTHFR rs1801133 polymorphisms are risk
            factors for arteriosclerosis in multiple arteries. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 9561)
  AUTHORS   Yang Q, Liu X, Jiang Y and Ma J.
  TITLE     [Aldehyde dehydrogenase 2 rs671 genetic polymorphisms are associated
            with chemotherapy-induced nausea and vomiting]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 43 (6), 1017-1022 (2023)
   PUBMED   37439175
  REMARK    GeneRIF: [Aldehyde dehydrogenase 2 rs671 genetic polymorphisms are
            associated with chemotherapy-induced nausea and vomiting].
REFERENCE   4  (bases 1 to 9561)
  AUTHORS   Hoang YTT, Nguyen YT, Vu LT, Bui HTT, Nguyen QV, Vu NP, Nguyen TD
            and Nguyen HH.
  TITLE     Association of ADH1B rs1229984, ADH1C rs698, and ALDH2 rs671 with
            Alcohol abuse and Alcoholic Cirrhosis in People Living in Northeast
            Vietnam
  JOURNAL   Asian Pac J Cancer Prev 24 (6), 2073-2082 (2023)
   PUBMED   37378938
  REMARK    GeneRIF: Association of ADH1B rs1229984, ADH1C rs698, and ALDH2
            rs671 with Alcohol abuse and Alcoholic Cirrhosis in People Living in
            Northeast Vietnam. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 9561)
  AUTHORS   Im PK, Wright N, Yang L, Chan KH, Chen Y, Guo Y, Du H, Yang X, Avery
            D, Wang S, Yu C, Lv J, Clarke R, Chen J, Collins R, Walters RG, Peto
            R, Li L, Chen Z and Millwood IY.
  CONSRTM   China Kadoorie Biobank Collaborative Group
  TITLE     Alcohol consumption and risks of more than 200 diseases in Chinese
            men
  JOURNAL   Nat Med 29 (6), 1476-1486 (2023)
   PUBMED   37291211
  REMARK    GeneRIF: Alcohol consumption and risks of more than 200 diseases in
            Chinese men.
REFERENCE   6  (bases 1 to 9561)
  AUTHORS   Yoshida A.
  TITLE     Molecular genetics of human aldehyde dehydrogenase
  JOURNAL   Pharmacogenetics 2 (4), 139-147 (1992)
   PUBMED   1306115
  REMARK    Review article
REFERENCE   7  (bases 1 to 9561)
  AUTHORS   Crabb DW, Edenberg HJ, Bosron WF and Li TK.
  TITLE     Genotypes for aldehyde dehydrogenase deficiency and alcohol
            sensitivity. The inactive ALDH2(2) allele is dominant
  JOURNAL   J Clin Invest 83 (1), 314-316 (1989)
   PUBMED   2562960
REFERENCE   8  (bases 1 to 9561)
  AUTHORS   Hsu LC, Bendel RE and Yoshida A.
  TITLE     Genomic structure of the human mitochondrial aldehyde dehydrogenase
            gene
  JOURNAL   Genomics 2 (1), 57-65 (1988)
   PUBMED   2838413
REFERENCE   9  (bases 1 to 9561)
  AUTHORS   Hsu,L.C., Tani,K., Fujiyoshi,T., Kurachi,K. and Yoshida,A.
  TITLE     Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2
  JOURNAL   Proc Natl Acad Sci U S A 82 (11), 3771-3775 (1985)
   PUBMED   2987944
REFERENCE   10  (bases 1 to 9561)
  AUTHORS   Greenfield,N.J. and Pietruszko,R.
  TITLE     Two aldehyde dehydrogenases from human liver. Isolation via affinity
            chromatography and characterization of the isozymes
  JOURNAL   Biochim Biophys Acta 483 (1), 35-45 (1977)
   PUBMED   18196
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.169202.1,
            SRR1803612.222503.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000261733.7/ ENSP00000261733.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC353712.1, BC002967.1,
            CB851683.1 and AC003029.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000690.3.
            Summary: This protein belongs to the aldehyde dehydrogenase family
            of proteins. Aldehyde dehydrogenase is the second enzyme of the
            major oxidative pathway of alcohol metabolism. Two major liver
            isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial,
            can be distinguished by their electrophoretic mobilities, kinetic
            properties, and subcellular localizations. Most Caucasians have two
            major isozymes, while approximately 50% of East Asians have the
            cytosolic isozyme but not the mitochondrial isozyme. A remarkably
            higher frequency of acute alcohol intoxication among East Asians
            than among Caucasians could be related to the absence of a
            catalytically active form of the mitochondrial isozyme. The
            increased exposure to acetaldehyde in individuals with the
            catalytically inactive form may also confer greater susceptibility
            to many types of cancer. This gene encodes a mitochondrial isoform,
            which has a low Km for acetaldehydes, and is localized in
            mitochondrial matrix. Alternative splicing results in multiple
            transcript variants encoding distinct isoforms.[provided by RefSeq,
            Nov 2016].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..9561
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.12"
     gene            1..9561
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /note="aldehyde dehydrogenase 2 family member"
                     /db_xref="GeneID:217"
                     /db_xref="HGNC:HGNC:404"
                     /db_xref="MIM:100650"
     misc_feature    39..41
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /note="upstream in-frame stop codon"
     CDS             51..1604
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /EC_number="1.2.1.3"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; acetaldehyde dehydrogenase 2; nucleus-encoded
                     mitochondrial aldehyde dehydrogenase 2; liver mitochondrial
                     ALDH; ALDH class 2; aldehyde dehydrogenase 2 family
                     (mitochondrial); epididymis secretory sperm binding
                     protein"
                     /codon_start=1
                     /product="aldehyde dehydrogenase, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_000681.2"
                     /db_xref="CCDS:CCDS9155.1"
                     /db_xref="GeneID:217"
                     /db_xref="HGNC:HGNC:404"
                     /db_xref="MIM:100650"
                     /translation="MLRAAARFGPRLGRRLLSAAATQAVPAPNQQPEVFCNQIFINNEW
                     HDAVSRKTFPTVNPSTGEVICQVAEGDKEDVDKAVKAARAAFQLGSPWRRMDASHRGRL
                     LNRLADLIERDRTYLAALETLDNGKPYVISYLVDLDMVLKCLRYYAGWADKYHGKTIPI
                     DGDFFSYTRHEPVGVCGQIIPWNFPLLMQAWKLGPALATGNVVVMKVAEQTPLTALYVA
                     NLIKEAGFPPGVVNIVPGFGPTAGAAIASHEDVDKVAFTGSTEIGRVIQVAAGSSNLKR
                     VTLELGGKSPNIIMSDADMDWAVEQAHFALFFNQGQCCCAGSRTFVQEDIYDEFVERSV
                     ARAKSRVVGNPFDSKTEQGPQVDETQFKKILGYINTGKQEGAKLLCGGGIAADRGYFIQ
                     PTVFGDVQDGMTIAKEEIFGPVMQILKFKTIEEVVGRANNSTYGLAAAVFTKDLDKANY
                     LSQALQAGTVWVNCYDVFGAQSPFGGYKMSGSGRELGEYGLQAYTEVKTVTVKVPQKNS
                     "
     transit_peptide 51..101
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
     mat_peptide     102..1601
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /product="aldehyde dehydrogenase, mitochondrial isoform 1"
     misc_feature    204..206
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P47738; propagated from
                     UniProtKB/Swiss-Prot (P05091.2); acetylation site"
     misc_feature    267..269
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P47738; propagated from
                     UniProtKB/Swiss-Prot (P05091.2); acetylation site"
     misc_feature    282..284
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P47738; propagated from
                     UniProtKB/Swiss-Prot (P05091.2); acetylation site"
     misc_feature    525..527
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P47738; propagated from
                     UniProtKB/Swiss-Prot (P05091.2); acetylation site"
     misc_feature    606..608
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /note="Transition state stabilizer.
                     /evidence=ECO:0000250|UniProtKB:P20000; propagated from
                     UniProtKB/Swiss-Prot (P05091.2); other site"
     misc_feature    1152..1154
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P47738; propagated from
                     UniProtKB/Swiss-Prot (P05091.2); acetylation site"
     misc_feature    1197..1199
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P47738; propagated from
                     UniProtKB/Swiss-Prot (P05091.2); acetylation site"
     misc_feature    1326..1328
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P47738; propagated from
                     UniProtKB/Swiss-Prot (P05091.2); acetylation site"
     misc_feature    1332..1334
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P47738; propagated from
                     UniProtKB/Swiss-Prot (P05091.2); acetylation site"
     misc_feature    1401..1403
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P47738; propagated from
                     UniProtKB/Swiss-Prot (P05091.2); acetylation site"
     regulatory      1988..1993
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /note="hexamer: ATTAAA"
     polyA_site      2009
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /note="major polyA site"
     regulatory      9541..9546
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
                     /note="hexamer: ATTAAA"
     polyA_site      9561
                     /gene="ALDH2"
                     /gene_synonym="ALDH-E2; ALDHI; ALDM"
ORIGIN
        1 gagaccctag ctctgctctc ggtccgctcg ctgtccgcta gcccgctgcg atgttgcgcg
       61 ctgccgcccg cttcgggccc cgcctgggcc gccgcctctt gtcagccgcc gccacccagg
      121 ccgtgcctgc ccccaaccag cagcccgagg tcttctgcaa ccagattttc ataaacaatg
      181 aatggcacga tgccgtcagc aggaaaacat tccccaccgt caatccgtcc actggagagg
      241 tcatctgtca ggtagctgaa ggggacaagg aagatgtgga caaggcagtg aaggccgccc
      301 gggccgcctt ccagctgggc tcaccttggc gccgcatgga cgcatcacac aggggccggc
      361 tgctgaaccg cctggccgat ctgatcgagc gggaccggac ctacctggcg gccttggaga
      421 ccctggacaa tggcaagccc tatgtcatct cctacctggt ggatttggac atggtcctca
      481 aatgtctccg gtattatgcc ggctgggctg ataagtacca cgggaaaacc atccccattg
      541 acggagactt cttcagctac acacgccatg aacctgtggg ggtgtgcggg cagatcattc
      601 cgtggaattt cccgctcctg atgcaagcat ggaagctggg cccagccttg gcaactggaa
      661 acgtggttgt gatgaaggta gctgagcaga cacccctcac cgccctctat gtggccaacc
      721 tgatcaagga ggctggcttt ccccctggtg tggtcaacat tgtgcctgga tttggcccca
      781 cggctggggc cgccattgcc tcccatgagg atgtggacaa agtggcattc acaggctcca
      841 ctgagattgg ccgcgtaatc caggttgctg ctgggagcag caacctcaag agagtgacct
      901 tggagctggg ggggaagagc cccaacatca tcatgtcaga tgccgatatg gattgggccg
      961 tggaacaggc ccacttcgcc ctgttcttca accagggcca gtgctgctgt gccggctccc
     1021 ggaccttcgt gcaggaggac atctatgatg agtttgtgga gcggagcgtt gcccgggcca
     1081 agtctcgggt ggtcgggaac ccctttgata gcaagaccga gcaggggccg caggtggatg
     1141 aaactcagtt taagaagatc ctcggctaca tcaacacggg gaagcaagag ggggcgaagc
     1201 tgctgtgtgg tgggggcatt gctgctgacc gtggttactt catccagccc actgtgtttg
     1261 gagatgtgca ggatggcatg accatcgcca aggaggagat cttcgggcca gtgatgcaga
     1321 tcctgaagtt caagaccata gaggaggttg ttgggagagc caacaattcc acgtacgggc
     1381 tggccgcagc tgtcttcaca aaggatttgg acaaggccaa ttacctgtcc caggccctcc
     1441 aggcgggcac tgtgtgggtc aactgctatg atgtgtttgg agcccagtca ccctttggtg
     1501 gctacaagat gtcggggagt ggccgggagt tgggcgagta cgggctgcag gcatacactg
     1561 aagtgaaaac tgtcacagtc aaagtgcctc agaagaactc ataagaatca tgcaagcttc
     1621 ctccctcagc cattgatgga aagttcagca agatcagcaa caaaaccaag aaaaatgatc
     1681 cttgcgtgct gaatatctga aaagagaaat ttttcctaca aaatctcttg ggtcaagaaa
     1741 gttctagaat ttgaattgat aaacatggtg ggttggctga gggtaagagt atatgaggaa
     1801 ccttttaaac gacaacaata ctgctagctt tcaggatgat ttttaaaaaa tagattcaaa
     1861 tgtgttatcc tctctctgaa acgcttccta taactcgagt ttatagggga agaaaaagct
     1921 attgtttaca attatatcac cattaaggca actgctacac cctgctttgt attctgggct
     1981 aagattcatt aaaaactagc tgctcttaac ttactgggta actctttgtc catctcaata
     2041 accaaaggaa ggtgggcatg gtggctcacg cctgtaatcc cagcactttg ggaagccgag
     2101 gcgggtggat cactcgaggt caggagtttg agaccagcct ggccaacgta gtgaaaccct
     2161 gtctctcact aaaaatacac aaattaggca gtcatggtgg ctggcacctg taatcccagc
     2221 tacttgggag gctgaggcag gaaaattggt tgaacctggg aggtggaggt tgcagtgagt
     2281 ggagatcatg ccactgcact ccagcctggg agtcagagcg agactccatc tcaaaaaaag
     2341 taaataaatg aaatagccta aggaaatgct ggcaggcagt aatgatatgg cacactggat
     2401 atgatttctg cccctcctct gctgtgggta aacagcttct gtttcatgca tttacttttt
     2461 tattttaatt acaccaataa gaatgtgctt gaatgtttca tgcatttaat ttgtttcatg
     2521 catttaactt ctggcctgtt tacctgtagc aggctctgag atgtgctcta gagacagaac
     2581 ctaaacatga tgcccaagag aggggagaga tactgaatgt ccaatgttct caaatttttt
     2641 tttttttttt ttttgagaca gggtcttgct ctgccatcca ggctggagtg cagtggcacg
     2701 atcatagctc actgctgcct cgacctcctg ggctcaaatg atcctcctgc ttcagcttcc
     2761 tgggctaatg tttgtatttt ttgtggagat gggactttgt tatgttgccc aggctgtttt
     2821 caaactcctg gactcaagtg atcctcccgc cttagcctcc taaggtgctg ggattacagg
     2881 tgtgagccac tgtgcccaat tcagttctca gtaaaaactt gatcaggcca aatgaaagtg
     2941 acatgggcca atttcataat agattgattt ggaaaccaga tgtcaattta cttactttaa
     3001 gtgagatctg tatcttcagt aaccagacct cttgagtctc ccacccagaa cactatcttc
     3061 ctctagtcaa gatacctggc aaaggccggg cacagtggct cacgcctata attccagcac
     3121 tttgggaggc caaggtgggt gggtcacctg aggttgggag ttcgagacca gcctgaccaa
     3181 cagggagaaa ccccatctct actgaaaata caaaaaaaaa aaaaaaaact agccgggcat
     3241 ggtggctcat gcctgtaatc ccagctactc aggaggctga ggcaggagaa ttgcttgaac
     3301 ctgggaggca gaggttgcag tgagccaaga ttgctccatt gtactccagc ctgggcaaca
     3361 agagagaaac tccgtctcaa aatataaata aataagaaaa agaagaaatg gaagctgggt
     3421 tcaagagggc aatcagcagt ctctaccatc atgtgaaaca ccactctgtg atttgagtct
     3481 tgacaatgta ttttcttttt ttttttcttc tttttttttt gagactgagt ctcggtctgt
     3541 cgcccaggct ggagtgcagt gacgtgatct tggctcactg caacctctgc ctcctgggtt
     3601 ggagcaattc tcctgcctca gcctcctgag tagctgggat tacaggtgtg cgccaccatg
     3661 cctggctaat ttttgtattt ttagtagaga cggggttttg ccatgttggc caggctggtg
     3721 ttgaaggcct gacctcaggt aatccaccca cctctgcctc ccagagtact gggattacaa
     3781 gtgtgagcca ccgtgcccgg ccaactgtag ggaccagccc cacagggtcg gtgggttttt
     3841 ctccccatgt gcggagacga gagattgtag aaataaagac acaagacaaa gaggtaaaag
     3901 aaaagacagc tgggcttggg ggaccactac caccaagagg cggagaccgg tagaggcccc
     3961 gaatgtctgg ctgcactgtt atttattgga tacaaagcaa aaggggcagg gtaaagagtg
     4021 tgagtcatct ccaatgacag gtaaggtcac gtgggtcacg tgtccactgg acagggggcc
     4081 cttccctgcc tggcagccaa ggcagagata gacagggaga gagagagaca gcttacgcca
     4141 ttatttctgc gtatcagaga cttttagtac tttcactaat tttgctactg ttatctaaaa
     4201 ggcagagcca ggtgtacagg atggaacatg aaggcagact aggagcgtga ccactgaagc
     4261 acagcaccac agggagacgg ttaggcctcc ggataactaa tgattaatga tattcatata
     4321 taatcatgtc tgtgatctag atctagtata actcttgttg ttttatatat tttattatac
     4381 tggaacagct cgtgccctcg gtctcttgcc tcagcacctg gatggcttgc cgcccacagc
     4441 caacaatgtg ttttcaatat gctccccaaa ctacagcaaa ctcctcttaa ctcgggattt
     4501 agggtgatgc cctacttatg cctaacttta tcaccagctt aaccctcatc tcattatata
     4561 ggatgatatt acttctagga agattttcta tgtatggagg gtgcatcatt taagagtatt
     4621 ttaggccagg cactgtggct catgcctgta atcccagcat tttgggaagc tgaggtgggt
     4681 gatttgcttc agcccacgag ttcaagatca gcctggccaa tatggtgaaa ccccatctct
     4741 acaaaaaaat acaaaaatta gctgagcgtg gtgatgtgtg cctgtggtcc cagttactct
     4801 ggaggctgat gtgggaggat cacttgagcc caggaggtca aggctgcagt gagctgtgat
     4861 tgcaccactt cactccagcc cagagtgaga ccccatctct gaaaaaaaca caaaaaacaa
     4921 gaaaagaata ctgcaaagaa ccttggtagg ggtgaattgg aaaaagtaga gaaatgtaat
     4981 atttctttcc tgctgtactc actgtaactg tgagaggatc ggctctttta accaacagat
     5041 aagaaaggaa atattagcta tgaagaaatg tctatcaagt tgattttgac aacctagaca
     5101 cattaatctc cttgcacttt tagtgacagg aacccattag aaccttaagc agctgtctga
     5161 agtaaaaaca aagctctcag gtgatgaacc acctaatctc cctgggtatt cggatgtggg
     5221 tcagtcacag gagtattagg tgtaaagccg ctgcttctgg gtagagcctc cacttgtggc
     5281 tgcacagagg gcacagagag cttttccttc agcccggaga agcttcctaa gtgtgggcgc
     5341 caccttgtgg gacatacatt gaactacgac gctatttctc caagaattaa caggacagcc
     5401 cctcccaccg gtgtccttcc aacgatgttg catacaattt ggctgtacat ttggcaggca
     5461 gtgtaatgag ggaatcaaag accaggatca catactggaa agaattgaaa acagagactc
     5521 ccaacaaaaa cttgtacacg gacgttcaca gcagcactat tcacgacagc tcagagatgg
     5581 aatcaaccca aatatcagtc aatagatgaa tggacagaca aaatgtgaca tatccatgca
     5641 gtggaatatt atttagccat aaaaaggaag gaagtgctga tgcatgttgc gatgtggatg
     5701 aaccttgaaa acatgatgct gagtgaaaga agccagacac aaaaggagaa ggactgtatg
     5761 atttcactta taggaaatat ccagaacagg caaatctata tagagagaag gtcgattgct
     5821 gggggccctg ggaagggacc aagggggagt gacttctaat ggtggggtgc ccttttgggg
     5881 tgatgaaaat gttttggaac cagatacagg tggtggttgt acaacattgt gaatttacta
     5941 aatgcaacca aattgctcac ttaaaaacaa caaattcagg ccaggtgcag tggctcacac
     6001 ccgtaatccc agcactttgg gaggccgagg tgggcggatc acatgaggtc aagagttcga
     6061 gactagcctg gccaacatgg tgaaatccca tctcggccgg gcgcggtggc tcacgcctgt
     6121 aatcccagca ctttgggagg ctgaggcggg tggatcacga ggtcaggaga tcgagaccat
     6181 cctggctaac acggtgaaac cccgtctcta ctaaaaatac aaaaaattag ccaggcgtgg
     6241 tggtgggcgc ctgtagtccc agctgatcgg gaggctaagg caggagaatg gtgtgaaccc
     6301 aggaggcgga gcttgcagtg agccgagatc gcgccactgc actctatcct gggtgacaga
     6361 gtgagactct gtctccaaaa aaaaaaaaag aaaccccatc tctacccaaa atacaaaaat
     6421 tagctgggca tggtggctgg cacctgtaat cccagctact caggaggctg aggcaggaga
     6481 attggttgaa cctgggaggc agaggttgca gtgagctaag atcgcaccac tgcactccag
     6541 cctgggtgac agaacgagac tgtctcaaaa aaaaaaaaaa aaaaaagtgg ccaggtggtg
     6601 ccatggctca tgcctgtaat ctcagcattt tgggatactg aggcgggtgg attacctgag
     6661 gccaggagtt cgagatcagc ctggccaaca tgatgaaaac ccatctctgc taaaaataca
     6721 aaaaattggc tgggcttggt agcatgtgcc cagctacttg ggaggctgag acaggagaat
     6781 cgcttgaacc tgggaggcag aggttgcggt tagccaagat tgtgccactg cactccatgg
     6841 gtgacacaga gagactctgt ctcaaaaaaa aaaaaaaaaa agtaaatgct atgttatgtg
     6901 aatttcacct caactgaaaa aaacagggtc ccagagctgg tcaggggaac ttggacaaac
     6961 cacacaactt ctgagcttcc atttcctcac aatctctgca gtcacttcca actctcattt
     7021 ggcttattct gtgaaggata aaacagagct gacatttgtt catttgtatt gattttattt
     7081 acatttttca aaaggaaata gatgcagatg gtatagaaag tttcagtgaa atgtaaatct
     7141 gatgcccaat cctgtggccc caagaagtat taactgtgca cccactacat gccaggaact
     7201 gtacttggag ccttctcaag agcttcttaa caatattttc attttttata ttttttaatg
     7261 acagggtcta actccgtcgt ccaggctgga gtgcagtggt gcgatcatag ctcactgcag
     7321 cctctacctc ctaggctcag gtgattcttc tgcctcagcc tcccaaatag ctggtactac
     7381 aagcatgtgc caccacagtc agctaattat ttttggagag tcagggtttc actatgtagc
     7441 tcaggctggt cttcagctcc tggcttgaag tgatcctcct gccttggcac atagaagggg
     7501 ttacaatata catatattag agtgagagca tagatgtgat gcctggcgat atggcttact
     7561 tatgagacag cacctgacct acagccatct atgactccta ctgtatcttc catgccagga
     7621 gtaagggtga ggatacctgg caataataaa aataataacc tgagagtcta atggcttatt
     7681 ttttgtagag atggggtctc actgtgttgt ttaggctggt cttgaacttc tgggctcaag
     7741 tgatcctccc acctcagcct cctgagtagc tgggattata ggcgtgcact accatgcata
     7801 tatatatata tttttttttt tttttgagag agagagagag agatggagtc ttgctatgtt
     7861 gctcaggctg gtctcgaact cctggcctca agtcatcctg ctggcttggc ctctcaagtg
     7921 ctaggattac aggcatgaga cactgggcac agccctaata gcttattttt aaagctatat
     7981 caaaatgtca tgcacctgaa catttgaagt aacctctctg atagtacgga tatttatccc
     8041 ctcaaaatct catgttaaaa tgtaatcttc agtgttggag gtggggcaag gtgtgaggtg
     8101 ttaggatcat gggggtggat ccctcatgaa tggcttggtg tcctccccca tggtaatgag
     8161 ttcactcaag agctggttgt ttaaaaggtg acgtggacct aatccctgtt ggactgaaca
     8221 aaaggggacg aacacagcaa taaagataaa gaccaaagag tatatttgga agaaggggtc
     8281 agggggctcc ttgcttctag tgaaaaaggg ccctgagctt tagtgccctt tgtatttatt
     8341 gggtaaagga gatagggaga agggggggtg gttgtcggtc agcagcttga ttcacagcag
     8401 gctcacaaga ttgcattctt tgaacagtag gctctagatg tctcagtaga taacctcaaa
     8461 gagcatggcg ccagggagtg attgccctca gcgaaccttc tggcggctga agcagaagtg
     8521 agtttgccca cattctgcat ttatgataaa cagtttgctg tttgatcata tagcctcagt
     8581 ggaatgctga gttggtcaca acccatgggc attcagctct ctacatttcc ccctttctgt
     8641 ttatgaatta attgaaagaa tgtaaggcca ggctgggcag ctctcatttt ctgattggca
     8701 gtccatccaa ttttacagac tatgaacaga agacagagac aaaacaacat tattccaagg
     8761 actacatata agatgttaat gtggtgcttt agacaggtcc aagggttgag gctctccagg
     8821 ccttgctgga atttggtcta gtcttctaaa gaaggctgaa actcttgagt ttgtttattt
     8881 aaatcaagaa ttttgttttg taattcaccg atatcaaagg tgatgttgga tgtgcaagct
     8941 ccctgcaaat gggctttcac aaggtcccat ggatactcac tttggttata ttctaagttg
     9001 gttacacaaa tatgagtgtg attaaaatga tggtgcaatt gctgttgcaa ttgcaagctt
     9061 tgtacttgtt ctcctaactg tagagccgtg gatttcaaca atgccacttc agtttgtaac
     9121 tcagtgttaa ttttattctg aagtggccat gcttggttgg ctatacgcat ccagttttcc
     9181 atgtactgag ttgtttgaat agaactatgc aaagctacag aggacatcac aacggaagtt
     9241 attaatgtga ccaaggaaac aatagcaaaa attatcatgc ctaaggctct atgggcacaa
     9301 tgagtaagtt gagttagaag atgtttcatg aagtgcaaag caggtgtggt agcccaaggc
     9361 tgggacagat taacaggaat ccatagccca gggatgcgac ccaaaattat caaagtagag
     9421 acattatgtg tttgcaatgt gctatgatta atgcagtgac ataactggca agatttacag
     9481 gtcaattgga tattgtttac ctggagctgg tccttcttag ttgccaaaaa agacataagg
     9541 attaaaaaga caaaccataa a
//
LOCUS       NM_000691               1639 bp    mRNA    linear   PRI 02-MAY-2023
DEFINITION  Homo sapiens aldehyde dehydrogenase 3 family member A1 (ALDH3A1),
            transcript variant 2, mRNA.
ACCESSION   NM_000691
VERSION     NM_000691.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1639)
  AUTHORS   Wang B, He Y, Wang B, Li J and Qin L.
  TITLE     ALDH3A1 overexpression in OSCC inhibits inflammation via
            phospho-Ser727 at STAT3 in tumor-associated macrophages
  JOURNAL   Oral Dis 29 (4), 1513-1524 (2023)
   PUBMED   35188323
  REMARK    GeneRIF: ALDH3A1 overexpression in OSCC inhibits inflammation via
            phospho-Ser727 at STAT3 in tumor-associated macrophages.
REFERENCE   2  (bases 1 to 1639)
  AUTHORS   Mok JW, So HR, Ha MJ, Na KS and Joo CK.
  TITLE     Association with Corneal Remodeling Related Genes, ALDH3A1, LOX, and
            SPARC Genes Variations in Korean Keratoconus Patients
  JOURNAL   Korean J Ophthalmol 35 (2), 120-129 (2021)
   PUBMED   33596621
  REMARK    GeneRIF: Association with Corneal Remodeling Related Genes, ALDH3A1,
            LOX, and SPARC Genes Variations in Korean Keratoconus Patients.
REFERENCE   3  (bases 1 to 1639)
  AUTHORS   Wang C, Xu J, Yuan D, Bai Y, Pan Y, Zhang J and Shao C.
  TITLE     Exosomes carrying ALDOA and ALDH3A1 from irradiated lung cancer
            cells enhance migration and invasion of recipients by accelerating
            glycolysis
  JOURNAL   Mol Cell Biochem 469 (1-2), 77-87 (2020)
   PUBMED   32297178
  REMARK    GeneRIF: Exosomes carrying ALDOA and ALDH3A1 from irradiated lung
            cancer cells enhance migration and invasion of recipients by
            accelerating glycolysis.
REFERENCE   4  (bases 1 to 1639)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1639)
  AUTHORS   Voulgaridou GP, Tsochantaridis I, Tolkas C, Franco R, Giatromanolaki
            A, Panayiotidis MI and Pappa A.
  TITLE     Aldehyde dehydrogenase 3A1 confers oxidative stress resistance
            accompanied by altered DNA damage response in human corneal
            epithelial cells
  JOURNAL   Free Radic Biol Med 150, 66-74 (2020)
   PUBMED   32006654
  REMARK    GeneRIF: Aldehyde dehydrogenase 3A1 confers oxidative stress
            resistance accompanied by altered DNA damage response in human
            corneal epithelial cells.
REFERENCE   6  (bases 1 to 1639)
  AUTHORS   Yoshida A.
  TITLE     Molecular genetics of human aldehyde dehydrogenase
  JOURNAL   Pharmacogenetics 2 (4), 139-147 (1992)
   PUBMED   1306115
  REMARK    Review article
REFERENCE   7  (bases 1 to 1639)
  AUTHORS   Hsu LC, Chang WC, Shibuya A and Yoshida A.
  TITLE     Human stomach aldehyde dehydrogenase cDNA and genomic cloning,
            primary structure, and expression in Escherichia coli
  JOURNAL   J Biol Chem 267 (5), 3030-3037 (1992)
   PUBMED   1737758
REFERENCE   8  (bases 1 to 1639)
  AUTHORS   Yin SJ, Vagelopoulos N, Wang SL and Jornvall H.
  TITLE     Structural features of stomach aldehyde dehydrogenase distinguish
            dimeric aldehyde dehydrogenase as a 'variable' enzyme. 'Variable'
            and 'constant' enzymes within the alcohol and aldehyde dehydrogenase
            families
  JOURNAL   FEBS Lett 283 (1), 85-88 (1991)
   PUBMED   2037078
REFERENCE   9  (bases 1 to 1639)
  AUTHORS   Eckey R, Timmann R, Hempel J, Agarwal DP and Goedde HW.
  TITLE     Biochemical, immunological, and molecular characterization of a
            'high Km' aldehyde dehydrogenase
  JOURNAL   Adv Exp Med Biol 284, 43-52 (1991)
   PUBMED   1905102
REFERENCE   10  (bases 1 to 1639)
  AUTHORS   Hopkinson,D.A., Santisteban,I., Povey,S. and Smith,M.
  TITLE     Biochemical genetic analysis of human and rodent aldehyde
            dehydrogenase (ALDH)
  JOURNAL   Alcohol 2 (1), 73-78 (1985)
   PUBMED   4015840
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC021194.2, AK225513.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000225740.11/ ENSP00000225740.6
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC004102.2, BC004370.1,
            CV575863.1 and BM979497.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 24, 2018 this sequence version replaced NM_000691.4.
            Summary: Aldehyde dehydrogenases oxidize various aldehydes to the
            corresponding acids. They are involved in the detoxification of
            alcohol-derived acetaldehyde and in the metabolism of
            corticosteroids, biogenic amines, neurotransmitters, and lipid
            peroxidation. The enzyme encoded by this gene forms a cytoplasmic
            homodimer that preferentially oxidizes aromatic and medium-chain (6
            carbons or more) saturated and unsaturated aldehyde substrates. It
            is thought to promote resistance to UV and
            4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The
            gene is located within the Smith-Magenis syndrome region on
            chromosome 17. Multiple alternatively spliced variants, encoding
            the same protein, have been identified. [provided by RefSeq, Sep
            2008].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1-3 encode the same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1639
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..1639
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /note="aldehyde dehydrogenase 3 family member A1"
                     /db_xref="GeneID:218"
                     /db_xref="HGNC:HGNC:405"
                     /db_xref="MIM:100660"
     CDS             46..1407
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /EC_number="1.2.1.5"
                     /note="isoform 1 is encoded by transcript variant 2;
                     aldehyde dehydrogenase type III; aldehyde dehydrogenase
                     isozyme 3; stomach aldehyde dehydrogenase"
                     /codon_start=1
                     /product="aldehyde dehydrogenase, dimeric NADP-preferring
                     isoform 1"
                     /protein_id="NP_000682.3"
                     /db_xref="CCDS:CCDS11212.1"
                     /db_xref="GeneID:218"
                     /db_xref="HGNC:HGNC:405"
                     /db_xref="MIM:100660"
                     /translation="MSKISEAVKRARAAFSSGRTRPLQFRIQQLEALQRLIQEQEQELV
                     GALAADLHKNEWNAYYEEVVYVLEEIEYMIQKLPEWAADEPVEKTPQTQQDELYIHSEP
                     LGVVLVIGTWNYPFNLTIQPMVGAIAAGNSVVLKPSELSENMASLLATIIPQYLDKDLY
                     PVINGGVPETTELLKERFDHILYTGSTGVGKIIMTAAAKHLTPVTLELGGKSPCYVDKN
                     CDLDVACRRIAWGKFMNSGQTCVAPDYILCDPSIQNQIVEKLKKSLKEFYGEDAKKSRD
                     YGRIISARHFQRVMGLIEGQKVAYGGTGDAATRYIAPTILTDVDPQSPVMQEEIFGPVL
                     PIVCVRSLEEAIQFINQREKPLALYMFSSNDKVIKKMIAETSSGGVAANDVIVHITLHS
                     LPFGGVGNSGMGSYHGKKSFETFSHRRSCLVRPLMNDEGLKVRYPPSPAKMTQH"
     misc_feature    49..51
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P30838.3); acetylation site"
     misc_feature    577..579
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P30838.3); acetylation site"
     misc_feature    625..627
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P30838.3); acetylation site"
     regulatory      1609..1614
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /note="hexamer: AATAAA"
     polyA_site      1639
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /note="major polyA site"
ORIGIN
        1 gttccaggag ccccagttac cgggagaggc tgtgtcaaag gcgccatgag caagatcagc
       61 gaggccgtga agcgcgcccg cgccgccttc agctcgggca ggacccgtcc gctgcagttc
      121 cggatccagc agctggaggc gctgcagcgc ctgatccagg agcaggagca ggagctggtg
      181 ggcgcgctgg ccgcagacct gcacaagaat gaatggaacg cctactatga ggaggtggtg
      241 tacgtcctag aggagatcga gtacatgatc cagaagctcc ctgagtgggc cgcggatgag
      301 cccgtggaga agacgcccca gactcagcag gacgagctct acatccactc ggagccactg
      361 ggcgtggtcc tcgtcattgg cacctggaac taccccttca acctcaccat ccagcccatg
      421 gtgggcgcca tcgctgcagg gaactcagtg gtcctcaagc cctcggagct gagtgagaac
      481 atggcgagcc tgctggctac catcatcccc cagtacctgg acaaggatct gtacccagta
      541 atcaatgggg gtgtccctga gaccacggag ctgctcaagg agaggttcga ccatatcctg
      601 tacacgggca gcacgggggt ggggaagatc atcatgacgg ctgctgccaa gcacctgacc
      661 cctgtcacgc tggagctggg agggaagagt ccctgctacg tggacaagaa ctgtgacctg
      721 gacgtggcct gccgacgcat cgcctggggg aaattcatga acagtggcca gacctgcgtg
      781 gcccctgact acatcctctg tgacccctcg atccagaacc aaattgtgga gaagctcaag
      841 aagtcactga aagagttcta cggggaagat gctaagaaat cccgggacta tggaagaatc
      901 attagtgccc ggcacttcca gagggtgatg ggcctgattg agggccagaa ggtggcttat
      961 gggggcaccg gggatgccgc cactcgctac atagccccca ccatcctcac ggacgtggac
     1021 ccccagtccc cggtgatgca agaggagatc ttcgggcctg tgctgcccat cgtgtgcgtg
     1081 cgcagcctgg aggaggccat ccagttcatc aaccagcgtg agaagcccct ggccctctac
     1141 atgttctcca gcaacgacaa ggtgattaag aagatgattg cagagacatc cagtggtggg
     1201 gtggcggcca acgatgtcat cgtccacatc accttgcact ctctgccctt cgggggcgtg
     1261 gggaacagcg gcatgggatc ctaccatggc aagaagagct tcgagacttt ctctcaccgc
     1321 cgctcttgcc tggtgaggcc tctgatgaat gatgaaggcc tgaaggtcag ataccccccg
     1381 agcccggcca agatgaccca gcactgagga ggggttgctc cgcctggcct ggccatactg
     1441 tgtcccatcg gagtgcggac caccctcact ggctctcctg gccctgggag aatcgctcct
     1501 gcagccccag cccagcccca ctcctctgct gacctgctga cctgtgcaca ccccactccc
     1561 acatgggccc aggcctcacc attccaagtc tccacccctt tctagaccaa taaagagacg
     1621 aatacaattt tctaactca
//
LOCUS       NM_000692               3028 bp    mRNA    linear   PRI 15-MAY-2023
DEFINITION  Homo sapiens aldehyde dehydrogenase 1 family member B1 (ALDH1B1),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000692
VERSION     NM_000692.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3028)
  AUTHORS   Feng Z, Hom ME, Bearrood TE, Rosenthal ZC, Fernandez D, Ondrus AE,
            Gu Y, McCormick AK, Tomaske MG, Marshall CR, Kline T, Chen CH,
            Mochly-Rosen D, Kuo CJ and Chen JK.
  TITLE     Targeting colorectal cancer with small-molecule inhibitors of
            ALDH1B1
  JOURNAL   Nat Chem Biol 18 (10), 1065-1075 (2022)
   PUBMED   35788181
  REMARK    GeneRIF: Targeting colorectal cancer with small-molecule inhibitors
            of ALDH1B1.
REFERENCE   2  (bases 1 to 3028)
  AUTHORS   Tsochantaridis I, Kontopoulos A, Voulgaridou GP, Tsifintaris M,
            Triantafyllou C and Pappa A.
  TITLE     Aldehyde Dehydrogenase 1B1 Is Implicated in DNA Damage Response in
            Human Colorectal Adenocarcinoma
  JOURNAL   Cells 11 (13), 2017 (2022)
   PUBMED   35805102
  REMARK    GeneRIF: Aldehyde Dehydrogenase 1B1 Is Implicated in DNA Damage
            Response in Human Colorectal Adenocarcinoma. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 3028)
  AUTHORS   Baek SH and Jang YK.
  TITLE     AMBRA1 Negatively Regulates the Function of ALDH1B1, a Cancer Stem
            Cell Marker, by Controlling Its Ubiquitination
  JOURNAL   Int J Mol Sci 22 (21), 12079 (2021)
   PUBMED   34769507
  REMARK    GeneRIF: AMBRA1 Negatively Regulates the Function of ALDH1B1, a
            Cancer Stem Cell Marker, by Controlling Its Ubiquitination.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3028)
  AUTHORS   Wang H, Li Y, Zhou D, Li X, Jia S, Qi S and Huang J.
  TITLE     Aldehyde dehydrogenase 1B1 is a potential marker of colorectal
            tumors
  JOURNAL   Histol Histopathol 36 (2), 183-194 (2021)
   PUBMED   33438176
  REMARK    GeneRIF: Aldehyde dehydrogenase 1B1 is a potential marker of
            colorectal tumors.
REFERENCE   5  (bases 1 to 3028)
  AUTHORS   Park B, Kim JH, Lee ES, Jung SY, Lee SY, Kang HS, Lee EG and Han JH.
  TITLE     Role of aldehyde dehydrogenases, alcohol dehydrogenase 1B genotype,
            alcohol consumption, and their combination in breast cancer in
            East-Asian women
  JOURNAL   Sci Rep 10 (1), 6564 (2020)
   PUBMED   32300124
  REMARK    GeneRIF: Role of aldehyde dehydrogenases, alcohol dehydrogenase 1B
            genotype, alcohol consumption, and their combination in breast
            cancer in East-Asian women. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3028)
  AUTHORS   Stewart MJ, Malek K, Xiao Q, Dipple KM and Crabb DW.
  TITLE     The novel aldehyde dehydrogenase gene, ALDH5, encodes an active
            aldehyde dehydrogenase enzyme
  JOURNAL   Biochem Biophys Res Commun 211 (1), 144-151 (1995)
   PUBMED   7779080
REFERENCE   7  (bases 1 to 3028)
  AUTHORS   Hiraoka LR, Hsu L and Hsieh CL.
  TITLE     Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human
            chromosome 9p13
  JOURNAL   Genomics 25 (1), 323-325 (1995)
   PUBMED   7774944
REFERENCE   8  (bases 1 to 3028)
  AUTHORS   Sherman D, Dave V, Hsu LC, Peters TJ and Yoshida A.
  TITLE     Diverse polymorphism within a short coding region of the human
            aldehyde dehydrogenase-5 (ALDH5) gene
  JOURNAL   Hum Genet 92 (5), 477-480 (1993)
   PUBMED   8244338
REFERENCE   9  (bases 1 to 3028)
  AUTHORS   Yoshida A.
  TITLE     Molecular genetics of human aldehyde dehydrogenase
  JOURNAL   Pharmacogenetics 2 (4), 139-147 (1992)
   PUBMED   1306115
  REMARK    Review article
REFERENCE   10  (bases 1 to 3028)
  AUTHORS   Hsu LC and Chang WC.
  TITLE     Cloning and characterization of a new functional human aldehyde
            dehydrogenase gene
  JOURNAL   J Biol Chem 266 (19), 12257-12265 (1991)
   PUBMED   2061311
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC001619.1, SRR1803614.55344.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000377698.4/ ENSP00000366927.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB256700.1, DA599259.1,
            AK313344.1, AL135785.10 and AI803741.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000692.4.
            Summary: This protein belongs to the aldehyde dehydrogenases family
            of proteins. Aldehyde dehydrogenase is the second enzyme of the
            major oxidative pathway of alcohol metabolism. This gene does not
            contain introns in the coding sequence. The variation of this locus
            may affect the development of alcohol-related problems. [provided
            by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3028
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.1"
     gene            1..3028
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /note="aldehyde dehydrogenase 1 family member B1"
                     /db_xref="GeneID:219"
                     /db_xref="HGNC:HGNC:407"
                     /db_xref="MIM:100670"
     CDS             116..1669
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /EC_number="1.2.1.3"
                     /note="aldehyde dehydrogenase 5; acetaldehyde dehydrogenase
                     5; ALDH class 2; aldehyde dehydrogenase X, mitochondrial;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="aldehyde dehydrogenase X, mitochondrial
                     precursor"
                     /protein_id="NP_000683.3"
                     /db_xref="CCDS:CCDS6615.1"
                     /db_xref="GeneID:219"
                     /db_xref="HGNC:HGNC:407"
                     /db_xref="MIM:100670"
                     /translation="MLRFLAPRLLSLQGRTARYSSAAALPSPILNPDIPYNQLFINNEW
                     QDAVSKKTFPTVNPTTGEVIGHVAEGDRADVDRAVKAAREAFRLGSPWRRMDASERGRL
                     LNRLADLVERDRVYLASLETLDNGKPFQESYALDLDEVIKVYRYFAGWADKWHGKTIPM
                     DGQHFCFTRHEPVGVCGQIIPWNFPLVMQGWKLAPALATGNTVVMKVAEQTPLSALYLA
                     SLIKEAGFPPGVVNIITGYGPTAGAAIAQHVDVDKVAFTGSTEVGHLIQKAAGDSNLKR
                     VTLELGGKSPSIVLADADMEHAVEQCHEALFFNMGQCCCAGSRTFVEESIYNEFLERTV
                     EKAKQRKVGNPFELDTQQGPQVDKEQFERVLGYIQLGQKEGAKLLCGGERFGERGFFIK
                     PTVFGGVQDDMRIAKEEIFGPVQPLFKFKKIEEVVERANNTRYGLAAAVFTRDLDKAMY
                     FTQALQAGTVWVNTYNIVTCHTPFGGFKESGNGRELGEDGLKAYTEVKTVTIKVPQKNS
                     "
     transit_peptide 116..166
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
     mat_peptide     167..1666
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /product="aldehyde dehydrogenase X, mitochondrial"
     misc_feature    266..268
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9CZS1; propagated from
                     UniProtKB/Swiss-Prot (P30837.4); acetylation site"
     misc_feature    269..271
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q9CZS1; propagated from
                     UniProtKB/Swiss-Prot (P30837.4); acetylation site"
     misc_feature    671..673
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /note="Transition state stabilizer. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P30837.4); other
                     site"
     misc_feature    1205..1207
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q9CZS1; propagated from
                     UniProtKB/Swiss-Prot (P30837.4); acetylation site"
     misc_feature    1262..1264
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q9CZS1; propagated from
                     UniProtKB/Swiss-Prot (P30837.4); acetylation site"
     misc_feature    1310..1312
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q9CZS1; propagated from
                     UniProtKB/Swiss-Prot (P30837.4); acetylation site"
     misc_feature    1355..1357
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q9CZS1; propagated from
                     UniProtKB/Swiss-Prot (P30837.4); acetylation site"
     misc_feature    1391..1393
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q9CZS1; propagated from
                     UniProtKB/Swiss-Prot (P30837.4); acetylation site"
     misc_feature    1400..1402
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9CZS1; propagated from
                     UniProtKB/Swiss-Prot (P30837.4); acetylation site"
     regulatory      3002..3007
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /note="hexamer: AATAAA"
     polyA_site      3028
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /note="major polyA site"
ORIGIN
        1 ggaggcggga cctgcggcca gccctgggcg gccatgtgga cagagctggg agggccggaa
       61 ccagaaccca agcgtgatcc tgaaccggag cccgagcctg ctgcagagtg tcagcatgct
      121 gcgcttcctg gcaccccggc tgcttagcct ccagggcagg accgcccgct actcctcggc
      181 agcagccctc ccaagcccca ttctgaaccc agacatcccc tacaaccagc tgttcatcaa
      241 caatgaatgg caagatgcag tcagcaagaa gaccttcccg acggtcaacc ctaccaccgg
      301 ggaggtcatt gggcacgtgg ctgaaggtga ccgggctgat gtggatcggg ccgtgaaagc
      361 agcccgggaa gccttccgcc tggggtcccc atggcgccgg atggatgcct ctgagcgggg
      421 ccggctgctg aaccgcctgg cagacctagt ggagcgggat cgagtctact tggcctcact
      481 cgagaccttg gacaatggga agcctttcca agagtcttac gccttggact tggatgaggt
      541 catcaaggtg tatcggtact ttgctggctg ggctgacaag tggcatggca agaccatccc
      601 catggatggc cagcatttct gcttcacccg gcatgagccc gttggtgtct gtggccagat
      661 catcccgtgg aacttcccct tggtcatgca gggttggaaa cttgccccgg cactcgccac
      721 aggcaacact gtggttatga aggtggcaga gcagaccccc ctctctgccc tgtatttggc
      781 ctccctcatc aaggaggcag gctttccccc tggggtggtg aacatcatca cggggtatgg
      841 cccaacagca ggtgcggcca tcgcccagca cgtggatgtt gacaaagttg ccttcaccgg
      901 ttccaccgag gtgggccacc tgatccagaa agcagctggc gattccaacc tcaagagagt
      961 caccctggag ctgggtggta agagccccag catcgtgctg gccgatgctg acatggagca
     1021 tgccgtggag cagtgccacg aagccctgtt cttcaacatg ggccagtgct gctgtgctgg
     1081 ctcccggacc ttcgtggaag aatccatcta caatgagttt ctcgagagaa ccgtggagaa
     1141 agcaaagcag aggaaagtgg ggaacccctt tgagctggac acccagcagg ggcctcaggt
     1201 ggacaaggag cagtttgaac gagtcctagg ctacatccag cttggccaga aggagggcgc
     1261 aaaactcctc tgtggcggag agcgtttcgg ggagcgtggt ttcttcatca agcctactgt
     1321 ctttggtggc gtgcaggatg acatgagaat tgccaaagag gagatctttg ggcctgtgca
     1381 gcccctgttc aagttcaaga agattgagga ggtggttgag agggccaaca acaccaggta
     1441 tggcctggct gcggctgtgt tcacccggga tctggacaag gccatgtact tcacccaggc
     1501 actccaggcc gggaccgtgt gggtaaacac ctacaacatc gtcacctgcc acacgccatt
     1561 tggagggttt aaggaatctg gaaacgggag ggagctgggt gaggatgggc ttaaggccta
     1621 cacagaggta aagacggtca ccatcaaggt tcctcagaag aactcgtaag agcagctgtc
     1681 agggaggccc agtcacagtc cagcaattcc acaaccacct tgacgaatgc ttgccaagct
     1741 gttttaaagc caagaacacc ctttctttgt tccaaattaa ctcttagaag aaaccccaca
     1801 aataaagcaa ttcaatcaag gctgttctat ttaaatcaga gatggggacc aggctcagag
     1861 ttctacctat ctaaccccca accacagccc ccttggtggc ccatgagttg cttccatgaa
     1921 atcttaggag tctctggagg acagattaaa aaccagtgat ctgtaatttg tagctcttcc
     1981 tgctgatcca aggactttcc catgggtgcg cttgatggtt tagtggatcg actcaactca
     2041 gaacacaagc ttggaaagtg ttaggggttt tgaactaggt ggatactaaa tctcggcccc
     2101 actcttcatt ggcttaacct aaaaaccaga ggtgcttttc cttgtctgtg tgccagttgc
     2161 tggctgtttt agttgcttgc ccttcatttt gctactgatt ttccttaatt tgtgggaagg
     2221 agtaggcaaa gaatatgctt acatgattac acctgtaaag taagcccaaa catcccaaat
     2281 gtccgtcaac tgatgagtgg attaataaaa tgtttccatg gaatattcct tggattactc
     2341 agccataaaa aggaatgaag tactgacaca tgctgtgaca tcagtgaacc ctgaaaacat
     2401 ccttctcagt gaaacaagcc agagagatgt acaaggctac agactgtatg attccattta
     2461 tatgaaatat acatactagg caaatccatg gagatggaac atagattagt ggttgccagg
     2521 ggatagagga gtaattgtta gtgggcatgg gatttgtttt tgggaggttt tgaaaatgtt
     2581 ctggagttga acaatagtaa tggttgcatg atttggtaaa aatactaaaa actatggaat
     2641 tgtttaatta tggtatatga attaatttct ttcttttttt cttttttttt tttttttttg
     2701 acacggagtc tcactctgtc gcccaggctg gagtgcagtg gtgtgatctc gtctcactgc
     2761 aacctccgcc tcccagattc aagcgattct cctgtctcag cctcctgagt agctgggatt
     2821 ataggtacat gccatcacac ctggctaatt tttgtatttt tagtagagat gaggtttcac
     2881 cattttggcc aggctgatct tgaactcctg acctcaggtg atccacccgc ctcagcctcc
     2941 caaagtgctg ggattacagg tgggagccac aacacccggc catgaattaa ctccgttaaa
     3001 aaataaacgt atacattctg tgagcaaa
//
LOCUS       NM_000693               3469 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens aldehyde dehydrogenase 1 family member A3 (ALDH1A3),
            transcript variant 1, mRNA.
ACCESSION   NM_000693
VERSION     NM_000693.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3469)
  AUTHORS   Mao P, Wang T, Gao K, Li Y, Du C and Wang M.
  TITLE     MiR-320b aberrant expression enhances the radioresistance of human
            glioma via upregulated expression of ALDH1A3
  JOURNAL   Aging (Albany NY) 15 (6), 2347-2357 (2023)
   PUBMED   36996494
  REMARK    GeneRIF: MiR-320b aberrant expression enhances the radioresistance
            of human glioma via upregulated expression of ALDH1A3.
REFERENCE   2  (bases 1 to 3469)
  AUTHORS   Xiong Y, Motomura H, Tamori S, Ozaki A, Onaga C, Hara Y, Sato K,
            Tahata K, Harada Y, Sasaki K, Zheng YW, Ohno S and Akimoto K.
  TITLE     High Expression of CD58 and ALDH1A3 Predicts a Poor Prognosis in
            Basal-like Breast Cancer
  JOURNAL   Anticancer Res 42 (11), 5223-5232 (2022)
   PUBMED   36288878
  REMARK    GeneRIF: High Expression of CD58 and ALDH1A3 Predicts a Poor
            Prognosis in Basal-like Breast Cancer.
REFERENCE   3  (bases 1 to 3469)
  AUTHORS   Ozaki A, Motomura H, Tamori S, Onaga C, Nagashima Y, Kotori M,
            Matsuda C, Matsuda A, Mochizuki N, Sato T, Hara Y, Sato K, Miyagi Y,
            Nagashima Y, Hanawa T, Harada Y, Xiong Y, Sasaki K, Ohno S and
            Akimoto K.
  TITLE     High Expression of p62 and ALDH1A3 Is Associated With Poor Prognosis
            in Luminal B Breast Cancer
  JOURNAL   Anticancer Res 42 (7), 3299-3312 (2022)
   PUBMED   35790283
  REMARK    GeneRIF: High Expression of p62 and ALDH1A3 Is Associated With Poor
            Prognosis in Luminal B Breast Cancer.
REFERENCE   4  (bases 1 to 3469)
  AUTHORS   Castellvi A, Pequerul R, Barracco V, Juanhuix J, Pares X and Farres
            J.
  TITLE     Structural and biochemical evidence that ATP inhibits the cancer
            biomarker human aldehyde dehydrogenase 1A3
  JOURNAL   Commun Biol 5 (1), 354 (2022)
   PUBMED   35418200
  REMARK    GeneRIF: Structural and biochemical evidence that ATP inhibits the
            cancer biomarker human aldehyde dehydrogenase 1A3. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 3469)
  AUTHORS   Lang T, Xu J, Zhou L, Zhang Z, Ma X, Gu J, Liu J, Li Y, Ding D and
            Qiu J.
  TITLE     Disruption of KDM4C-ALDH1A3 feed-forward loop inhibits stemness,
            tumorigenesis and chemoresistance of gastric cancer stem cells
  JOURNAL   Signal Transduct Target Ther 6 (1), 336 (2021)
   PUBMED   34548470
  REMARK    GeneRIF: Disruption of KDM4C-ALDH1A3 feed-forward loop inhibits
            stemness, tumorigenesis and chemoresistance of gastric cancer stem
            cells. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3469)
  AUTHORS   Everts HB, King LE Jr, Sundberg JP and Ong DE.
  TITLE     Hair cycle-specific immunolocalization of retinoic acid synthesizing
            enzymes Aldh1a2 and Aldh1a3 indicate complex regulation
  JOURNAL   J Invest Dermatol 123 (2), 258-263 (2004)
   PUBMED   15245423
REFERENCE   7  (bases 1 to 3469)
  AUTHORS   Nishimura M, Yoshitsugu H, Naito S and Hiraoka I.
  TITLE     Evaluation of gene induction of drug-metabolizing enzymes and
            transporters in primary culture of human hepatocytes using
            high-sensitivity real-time reverse transcription PCR
  JOURNAL   Yakugaku Zasshi 122 (5), 339-361 (2002)
   PUBMED   12040753
REFERENCE   8  (bases 1 to 3469)
  AUTHORS   Rexer BN, Zheng WL and Ong DE.
  TITLE     Retinoic acid biosynthesis by normal human breast epithelium is via
            aldehyde dehydrogenase 6, absent in MCF-7 cells
  JOURNAL   Cancer Res 61 (19), 7065-7070 (2001)
   PUBMED   11585737
REFERENCE   9  (bases 1 to 3469)
  AUTHORS   Yoshida A, Rzhetsky A, Hsu LC and Chang C.
  TITLE     Human aldehyde dehydrogenase gene family
  JOURNAL   Eur J Biochem 251 (3), 549-557 (1998)
   PUBMED   9490025
  REMARK    Review article
REFERENCE   10  (bases 1 to 3469)
  AUTHORS   Hsu LC, Chang WC, Hiraoka L and Hsieh CL.
  TITLE     Molecular cloning, genomic organization, and chromosomal
            localization of an additional human aldehyde dehydrogenase gene,
            ALDH6
  JOURNAL   Genomics 24 (2), 333-341 (1994)
   PUBMED   7698756
  REMARK    GeneRIF: play a major role in the detoxification of aldehydes
            generated by alcohol metabolism and lipid peroxidation.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC069274.1, SRR1803615.15581.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000329841.10/ ENSP00000332256.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB480234.1 and BC069274.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000693.3.
            Summary: This gene encodes an aldehyde dehydrogenase enzyme that
            uses retinal as a substrate. Mutations in this gene have been
            associated with microphthalmia, isolated 8, and expression changes
            have also been detected in tumor cells. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jun
            2014].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3469
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     gene            1..3469
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /note="aldehyde dehydrogenase 1 family member A3"
                     /db_xref="GeneID:220"
                     /db_xref="HGNC:HGNC:409"
                     /db_xref="MIM:600463"
     CDS             78..1616
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /EC_number="1.2.1.36"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aldehyde dehydrogenase 6; retinaldehyde dehydrogenase 3;
                     acetaldehyde dehydrogenase 6"
                     /codon_start=1
                     /product="retinaldehyde dehydrogenase 3 isoform 1"
                     /protein_id="NP_000684.2"
                     /db_xref="CCDS:CCDS10389.1"
                     /db_xref="GeneID:220"
                     /db_xref="HGNC:HGNC:409"
                     /db_xref="MIM:600463"
                     /translation="MATANGAVENGQPDRKPPALPRPIRNLEVKFTKIFINNEWHESKS
                     GKKFATCNPSTREQICEVEEGDKPDVDKAVEAAQVAFQRGSPWRRLDALSRGRLLHQLA
                     DLVERDRATLAALETMDTGKPFLHAFFIDLEGCIRTLRYFAGWADKIQGKTIPTDDNVV
                     CFTRHEPIGVCGAITPWNFPLLMLVWKLAPALCCGNTMVLKPAEQTPLTALYLGSLIKE
                     AGFPPGVVNIVPGFGPTVGAAISSHPQINKIAFTGSTEVGKLVKEAASRSNLKRVTLEL
                     GGKNPCIVCADADLDLAVECAHQGVFFNQGQCCTAASRVFVEEQVYSEFVRRSVEYAKK
                     RPVGDPFDVKTEQGPQIDQKQFDKILELIESGKKEGAKLECGGSAMEDKGLFIKPTVFS
                     EVTDNMRIAKEEIFGPVQPILKFKSIEEVIKRANSTDYGLTAAVFTKNLDKALKLASAL
                     ESGTVWINCYNALYAQAPFGGFKMSGNGRELGEYALAEYTEVKTVTIKLGDKNP"
     misc_feature    78..143
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /note="propagated from UniProtKB/Swiss-Prot (P47895.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    81..83
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.3,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P47895.2); acetylation site"
     misc_feature    618..620
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /note="Transition state stabilizer. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P47895.2); other
                     site"
     regulatory      3447..3452
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /note="hexamer: AATAAA"
     polyA_site      3469
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /note="major polyA site"
ORIGIN
        1 agcgggctgc gcagtgtccg ggccgagccg gtgcgccgca gactagggcg cctcgggcca
       61 gggagcgcgg aggagccatg gccaccgcta acggggccgt ggaaaacggg cagccggaca
      121 ggaagccgcc ggccctgccg cgccccatcc gcaacctgga ggtcaagttc accaagatat
      181 ttatcaacaa tgaatggcac gaatccaaga gtgggaaaaa gtttgctaca tgtaaccctt
      241 caactcggga gcaaatatgt gaagtggaag aaggagataa gcccgacgtg gacaaggctg
      301 tggaggctgc acaggttgcc ttccagaggg gctcgccatg gcgccggctg gatgccctga
      361 gtcgtgggcg gctgctgcac cagctggctg acctggtgga gagggaccgc gccaccttgg
      421 ccgccctgga gacgatggat acagggaagc catttcttca tgcttttttc atcgacctgg
      481 agggctgtat tagaaccctc agatactttg cagggtgggc agacaaaatc cagggcaaga
      541 ccatccccac agatgacaac gtcgtgtgct tcaccaggca tgagcccatt ggtgtctgtg
      601 gggccatcac tccatggaac ttccccctgc tgatgctggt gtggaagctg gcacccgccc
      661 tctgctgtgg gaacaccatg gtcctgaagc ctgcggagca gacacctctc accgcccttt
      721 atctcggctc tctgatcaaa gaggccgggt tccctccagg agtggtgaac attgtgccag
      781 gattcgggcc cacagtggga gcagcaattt cttctcaccc tcagatcaac aagatcgcct
      841 tcaccggctc cacagaggtt ggaaaactgg ttaaagaagc tgcgtcccgg agcaatctga
      901 agcgggtgac gctggagctg ggggggaaga acccctgcat cgtgtgtgcg gacgctgact
      961 tggacttggc agtggagtgt gcccatcagg gagtgttctt caaccaaggc cagtgttgca
     1021 cggcagcctc cagggtgttc gtggaggagc aggtctactc tgagtttgtc aggcggagcg
     1081 tggagtatgc caagaaacgg cccgtgggag accccttcga tgtcaaaaca gaacaggggc
     1141 ctcagattga tcaaaagcag ttcgacaaaa tcttagagct gatcgagagt gggaagaagg
     1201 aaggggccaa gctggaatgc gggggctcag ccatggaaga caaggggctc ttcatcaaac
     1261 ccactgtctt ctcagaagtc acagacaaca tgcggattgc caaagaggag attttcgggc
     1321 cagtgcaacc aatactgaag ttcaaaagta tcgaagaagt gataaaaaga gcgaatagca
     1381 ccgactatgg actcacagca gccgtgttca caaaaaatct cgacaaagcc ctgaagttgg
     1441 cttctgcctt agagtctgga acggtctgga tcaactgcta caacgccctc tatgcacagg
     1501 ctccatttgg tggctttaaa atgtcaggaa atggcagaga actaggtgaa tacgctttgg
     1561 ccgaatacac agaagtgaaa actgtcacca tcaaacttgg cgacaagaac ccctgaagga
     1621 aaggcggggc tccttcctca aacatcggac ggcggaatgt ggcagatgaa atgtgctgga
     1681 ggaaaaaaat gacatttctg accttcccgg gacacattct tctggaggct ttacatctac
     1741 tggagttgaa tgattgctgt tttcctctca ctctcctgtt tattcaccag actggggatg
     1801 cctataggtt gtctgtgaaa tcgcagtcct gcctggggag ggagctgttg gccatttctg
     1861 tgtttccctt taaaccagat cctggagaca gtgagatact cagggcgttg ttaacaggga
     1921 gtggtatttg aagtgtccag cagttgcttg aaatgctttg ccgaatctga ctccagtaag
     1981 aatgtgggaa aaccccctgt gtgttctgca agcagggctc ttgcaccagc ggtctcctca
     2041 gggtggacct gcttacagag caagccacgc ctctttccga ggtgaaggtg ggaccattcc
     2101 ttgggaaagg attcacagta aggttttttg gtttttgttt tttgttttct tgtttttaaa
     2161 aaaaggattt cacagtgaga aagttttggt tagtgcatac cgtggaaggg cgccagggtc
     2221 tttgtggatt gcatgttgac attgaccgtg agattcggct tcaaaccaat actgcctttg
     2281 gaatatgaca gaatcaatag cccagagagc ttagtcaaag acgatatcac ggtctacctt
     2341 aaccaaggca ctttcttaag cagaaaatat tgttgaggtt acctttgctg ctaaagatcc
     2401 aatcttctaa cgccacaaca gcatagcaaa tcctaggata attcacctcc tcatttgaca
     2461 aatcagagct gtaattcgct ttaacaaatt acgcatttct atcacgttca ctaacagctt
     2521 atgataagtc tgtgtagtct tccttttctc cagttctgtt acccaattta gattagtaaa
     2581 gcgtacacaa ctggaaagac tgctgtaata acacagcctt gttattttta agtcctattt
     2641 tgatattaat ttctgattag ttagtaaata acacctggat tctatggagg acctcggtct
     2701 tcatccaagt ggcctgagta tttcactggc aggttgtgaa tttttctttt cctctttggg
     2761 gatccaaatg atgatgtgca atttcatgtt ttaacttggg aaactgaaag tgttcccata
     2821 tagcttcaaa aacaaaaaca aatgtgttat ccgacggata cttttatggt tactaactag
     2881 tactttccta attgggaaag tagtgcttaa gtttgcaaat taagttgggg agggcaataa
     2941 taaaatgagg gcccgtaaca gaaccagtgt gtgtataacg aaaaccatgt ataaaatggg
     3001 cctatcaccc ttgtcagaga tataaattac cacatttgcc ttcccttcat cagctaacac
     3061 ttatcactta tactaccaat aacttgttaa atcaggattt ggcttcatac actgaatttt
     3121 cagtatttta tctcaagtag atatagacac taaccttgat agtgatacgt tagagggttc
     3181 ctattcttcc attgtacgat aatgtcttta atatgaaatg ctacattatt tataattggt
     3241 agagttattg tatcttttta tagttgtaag tacacagagg tggtatattt aaacttctgt
     3301 aatatactgt atttagaaat ggaaatatat atagtgttag gtttcacttc ttttaaggtt
     3361 tacccctgtg gtgtggttta aaaatctata ggcctgggaa ttccgatcct agctgcagat
     3421 cgcatcccac aatgcgagaa tgataaaata aaattggata tttgagaaa
//
LOCUS       NM_000694               2811 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens aldehyde dehydrogenase 3 family member B1 (ALDH3B1),
            transcript variant 1, mRNA.
ACCESSION   NM_000694
VERSION     NM_000694.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2811)
  AUTHORS   Li Q, Qiu Q, Zhang L, Zhang X, Wang Y, Geng Z, Ge S, Zuo L, Song X,
            Li J and Hu J.
  TITLE     [ALDH3B1 expression is correlated with histopathology and long-term
            prognosis of gastric cancer]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 42 (5), 633-640 (2022)
   PUBMED   35673905
  REMARK    GeneRIF: [ALDH3B1 expression is correlated with histopathology and
            long-term prognosis of gastric cancer].
REFERENCE   2  (bases 1 to 2811)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2811)
  AUTHORS   Sun H, Zhang M, Li L and Huang Z.
  TITLE     ALDH3B1 Is an Independent Prognostic Biomarker of Lung
            Adenocarcinoma
  JOURNAL   Technol Cancer Res Treat 19, 1533033820946018 (2020)
   PUBMED   32744175
  REMARK    GeneRIF: ALDH3B1 Is an Independent Prognostic Biomarker of Lung
            Adenocarcinoma.
REFERENCE   4  (bases 1 to 2811)
  AUTHORS   Kitamura T, Naganuma T, Abe K, Nakahara K, Ohno Y and Kihara A.
  TITLE     Substrate specificity, plasma membrane localization, and lipid
            modification of the aldehyde dehydrogenase ALDH3B1
  JOURNAL   Biochim Biophys Acta 1831 (8), 1395-1401 (2013)
   PUBMED   23721920
  REMARK    GeneRIF: the likely physiological function of ALDH3B1 is to oxidize
            lipid-derived aldehydes generated in the plasma membrane and not to
            be involved in the sphingolipid metabolism in the endoplasmic
            reticulum.
REFERENCE   5  (bases 1 to 2811)
  AUTHORS   Marchitti SA, Brocker C, Orlicky DJ and Vasiliou V.
  TITLE     Molecular characterization, expression analysis, and role of ALDH3B1
            in the cellular protection against oxidative stress
  JOURNAL   Free Radic Biol Med 49 (9), 1432-1443 (2010)
   PUBMED   20699116
  REMARK    GeneRIF: protects cells from the damaging effects of oxidative
            stress
REFERENCE   6  (bases 1 to 2811)
  AUTHORS   Marchitti SA, Orlicky DJ, Brocker C and Vasiliou V.
  TITLE     Aldehyde dehydrogenase 3B1 (ALDH3B1): immunohistochemical tissue
            distribution and cellular-specific localization in normal and
            cancerous human tissues
  JOURNAL   J Histochem Cytochem 58 (9), 765-783 (2010)
   PUBMED   20729348
  REMARK    GeneRIF: The specificity of ALDH3B1 distribution may prove to be
            directly related to the functional role of this enzyme in human
            tissues.
REFERENCE   7  (bases 1 to 2811)
  AUTHORS   Jin P, Fu GK, Wilson AD, Yang J, Chien D, Hawkins PR, Au-Young J and
            Stuve LL.
  TITLE     PCR isolation and cloning of novel splice variant mRNAs from known
            drug target genes
  JOURNAL   Genomics 83 (4), 566-571 (2004)
   PUBMED   15028279
REFERENCE   8  (bases 1 to 2811)
  AUTHORS   Yoshida A, Rzhetsky A, Hsu LC and Chang C.
  TITLE     Human aldehyde dehydrogenase gene family
  JOURNAL   Eur J Biochem 251 (3), 549-557 (1998)
   PUBMED   9490025
  REMARK    Review article
REFERENCE   9  (bases 1 to 2811)
  AUTHORS   Hsu LC, Chang WC and Yoshida A.
  TITLE     Human aldehyde dehydrogenase genes, ALDH7 and ALDH8: genomic
            organization and gene structure comparison
  JOURNAL   Gene 189 (1), 89-94 (1997)
   PUBMED   9161417
REFERENCE   10  (bases 1 to 2811)
  AUTHORS   Hsu LC, Chang WC and Yoshida A.
  TITLE     Cloning of a cDNA encoding human ALDH7, a new member of the aldehyde
            dehydrogenase family
  JOURNAL   Gene 151 (1-2), 285-289 (1994)
   PUBMED   7828891
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC013584.2, SRR3476690.601337.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000342456.11/ ENSP00000473990.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA624671.1 and BC013584.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000694.3.
            Summary: This gene encodes a member of the aldehyde dehydrogenase
            protein family. Aldehyde dehydrogenases are a family of isozymes
            that may play a major role in the detoxification of aldehydes
            generated by alcohol metabolism and lipid peroxidation. The encoded
            protein is able to oxidize long-chain fatty aldehydes in vitro, and
            may play a role in protection from oxidative stress. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Feb 2014].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). Variants 1 and 3 encode the same isoform.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2811
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..2811
                     /gene="ALDH3B1"
                     /gene_synonym="ALDH4; ALDH7"
                     /note="aldehyde dehydrogenase 3 family member B1"
                     /db_xref="GeneID:221"
                     /db_xref="HGNC:HGNC:410"
                     /db_xref="MIM:600466"
     CDS             68..1474
                     /gene="ALDH3B1"
                     /gene_synonym="ALDH4; ALDH7"
                     /EC_number="1.2.1.5"
                     /EC_number="1.2.1.28"
                     /EC_number="1.2.1.7"
                     /note="isoform a is encoded by transcript variant 1;
                     aldehyde dehydrogenase 3B1; aldehyde dehydrogenase 7"
                     /codon_start=1
                     /product="aldehyde dehydrogenase family 3 member B1 isoform
                     a"
                     /protein_id="NP_000685.1"
                     /db_xref="CCDS:CCDS73335.1"
                     /db_xref="GeneID:221"
                     /db_xref="HGNC:HGNC:410"
                     /db_xref="MIM:600466"
                     /translation="MDPLGDTLRRLREAFHAGRTRPAEFRAAQLQGLGRFLQENKQLLH
                     DALAQDLHKSAFESEVSEVAISQGEVTLALRNLRAWMKDERVPKNLATQLDSAFIRKEP
                     FGLVLIIAPWNYPLNLTLVPLVGALAAGNCVVLKPSEISKNVEKILAEVLPQYVDQSCF
                     AVVLGGPQETGQLLEHRFDYIFFTGSPRVGKIVMTAAAKHLTPVTLELGGKNPCYVDDN
                     CDPQTVANRVAWFRYFNAGQTCVAPDYVLCSPEMQERLLPALQSTITRFYGDDPQSSPN
                     LGRIINQKQFQRLRALLGCGRVAIGGQSDESDRYIAPTVLVDVQEMEPVMQEEIFGPIL
                     PIVNVQSLDEAIEFINRREKPLALYAFSNSSQVVKRVLTQTSSGGFCGNDGFMHMTLAS
                     LPFGGVGASGMGRYHGKFSFDTFSHHRACLLRSPGMEKLNALRYPPQSPRRLRMLLVAM
                     EAQGCSCTLL"
     mat_peptide     68..1462
                     /gene="ALDH3B1"
                     /gene_synonym="ALDH4; ALDH7"
                     /product="Aldehyde dehydrogenase family 3 member B1.
                     /id=PRO_0000056481"
                     /note="propagated from UniProtKB/Swiss-Prot (P43353.1)"
     misc_feature    68..70
                     /gene="ALDH3B1"
                     /gene_synonym="ALDH4; ALDH7"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P43353.1); acetylation site"
     misc_feature    1460..1462
                     /gene="ALDH3B1"
                     /gene_synonym="ALDH4; ALDH7"
                     /note="Cysteine methyl ester. /evidence=ECO:0000305;
                     propagated from UniProtKB/Swiss-Prot (P43353.1);
                     methylation site"
     regulatory      2789..2794
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH3B1"
                     /gene_synonym="ALDH4; ALDH7"
                     /note="hexamer: AATAAA"
     polyA_site      2811
                     /gene="ALDH3B1"
                     /gene_synonym="ALDH4; ALDH7"
                     /note="major polyA site"
ORIGIN
        1 cttaacagca gggccaccag gcagagcggg acagccagga ggaagggcag cttggcagag
       61 cctcaggatg gacccccttg gggacacgct gcggcgactg cgggaggcct tccacgcggg
      121 gcgcacgcgg ccagctgagt tccgggctgc gcagctccaa ggcctgggcc gcttcctgca
      181 agaaaacaag cagcttctgc acgacgcact ggcccaggac ctgcacaagt cagccttcga
      241 gtcggaggtg tctgaggttg ccatcagcca gggcgaggtc accctggccc tcaggaacct
      301 ccgggcctgg atgaaggacg agcgtgtgcc caagaacctg gccacgcagc tggactccgc
      361 cttcatccgg aaggagccct ttggcctggt cctcatcatt gcgccctgga actatccgct
      421 gaacctgacg ctggtgcccc tcgtgggagc cctcgctgca gggaactgtg tggtgctgaa
      481 gccatcggag attagcaaga acgtcgagaa gatcctggcc gaggtgctgc cccaatacgt
      541 ggaccagagc tgctttgctg tggtgctggg cgggccccag gagacggggc agctgctaga
      601 gcacaggttc gactacatct tcttcacagg gagccctcgt gtgggcaaga ttgttatgac
      661 tgctgccgcc aagcacctga cacctgtcac cctggagctg gggggcaaga acccttgcta
      721 cgtggacgac aactgcgacc cccagaccgt ggccaaccgc gtggcctggt tccgctactt
      781 caacgccggc cagacctgcg tggcccccga ctacgtccta tgcagccctg agatgcagga
      841 gaggctgctg cctgccctgc agagcaccat cacccgtttc tatggcgacg acccccagag
      901 ctccccaaac ctgggccgca tcatcaacca gaaacagttc cagcggctgc gggcattgct
      961 gggctgcggc cgtgtggcca ttgggggcca gagcgatgag agcgatcgct acatcgcccc
     1021 cacggtgctg gtggatgtgc aggagatgga gcctgtgatg caggaggaga tcttcgggcc
     1081 catcctgccc atcgtgaacg tgcagagctt ggacgaggcc atcgagttca tcaaccggcg
     1141 ggagaagccc ctggccctgt acgccttctc caacagcagc caggtggtca agcgggtgct
     1201 gacccagacc agcagcgggg gcttctgtgg gaacgacggc ttcatgcaca tgaccctggc
     1261 cagcctgcct tttggaggag tgggtgccag tgggatgggc cggtaccatg gcaagttctc
     1321 cttcgacacc ttctcccacc atcgcgcctg cctcctgcgc agcccgggga tggagaagct
     1381 caacgccctc cgctacccgc cgcaatcgcc gcgccgcctg aggatgctgc tggtggccat
     1441 ggaggcccaa ggctgcagct gcacactgct ctgagccctt ccccaggccc aggctgtaga
     1501 ccaccatgac agctgtcgcc tgcggctggt ggagacgggg cctgggctcc cgggcccgag
     1561 gaggaaaagg attgccaagg ctccagggca cccctcaaag cagcgcctgc ctcctccctc
     1621 ctgggtcttc cctctccctg cctcagcctc ctccctcagc cgctcccaac catgagagcc
     1681 gaggtgggag gcatgggaaa cagtgcagtg actcaccccc tgcccccgca ccaaccaccc
     1741 atattcagga gaagaggaca gacacggcac ctctgagtca cccctctcct gtggagcggg
     1801 cgtccgaggg gccctggcat ctgactcagg ccacaccatg gaatcactgc atccaaggcc
     1861 attcctgccc tctctgagtc tcagtttttc catttgttca gtggagagaa ttaaccattg
     1921 atacctcctg gctgggtgag gcggctcaca cctgtaatcc cagcactttg ggaggccgag
     1981 gcaggcggat cacctgaaat caggagttca agatcagcct ggctaacatg gcgaaacccc
     2041 gtctctacta aaaatacaaa aattagcctg gcgtggtggc gcatgcctgt aatcccagct
     2101 actcaggagg ctaaggcagg agaatcgctt gaacccggga ggtggaggtt gccgtgagct
     2161 gagattgcgt cactgaactc cggcctgggt gacagaagga ggctctgcct taaaaaaaaa
     2221 aaaaaaaaaa acctcctggg actgttgcaa ggatgaaatg aaggattgag ggattgaggg
     2281 attgctgagc tggagctcca ggtgtcctat ctttctcagt ggggtggcac ggagcggggc
     2341 cgcctccctc ttctctccag gcaggtgggg ctgtggttat gcgatagggt ctcccttccc
     2401 tccagcccat gccagaggag cttgtaactc tttatcctca tggtgcccac tacgagtcat
     2461 actcttcccc atgctgctca tcctcctggg ccccatccac tcagccaaag cagaatgcag
     2521 ggtttcctgc ctgacaaccc ttctcacctc ccaagtccca cttttgaaca agctgatgat
     2581 tctgaaactg gcccaatttc ctaacaagcc ggatgcttga gaaacctaca tttggacaat
     2641 gagaggctgc tcctgcggcc tgcgggccac ctcctcttcc ttggctcctg ctttcttttt
     2701 agactatatc aacctacaac tttagtcggg aagagggaca ggggtggacc tgagtttcgt
     2761 ctcctgtctc tctggctgat gtcacctgaa taaagccttc ttccctggca a
//
LOCUS       NM_000696               2395 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens aldehyde dehydrogenase 9 family member A1 (ALDH9A1),
            transcript variant 1, mRNA.
ACCESSION   NM_000696
VERSION     NM_000696.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2395)
  AUTHORS   Koncitikova R, Vigouroux A, Kopecna M, Sebela M, Morera S and
            Kopecny D.
  TITLE     Kinetic and structural analysis of human ALDH9A1
  JOURNAL   Biosci Rep 39 (4) (2019)
   PUBMED   30914451
  REMARK    GeneRIF: structural comparison reveals a position and a fold of the
            inter-domain linker of ALDH9A1 never observed in any other ALDH so
            far. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2395)
  AUTHORS   Matsunaga A, Harita Y, Shibagaki Y, Shimizu N, Shibuya K, Ono H,
            Kato H, Sekine T, Sakamoto N, Igarashi T and Hattori S.
  TITLE     Identification of 4-Trimethylaminobutyraldehyde Dehydrogenase
            (TMABA-DH) as a Candidate Serum Autoantibody Target for Kawasaki
            Disease
  JOURNAL   PLoS One 10 (5), e0128189 (2015)
   PUBMED   26010099
  REMARK    GeneRIF: TMABA-DH colocalized with myosin light chains in cardiac
            myocytes. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2395)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer
            JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2395)
  AUTHORS   Ehret GB, O'Connor AA, Weder A, Cooper RS and Chakravarti A.
  TITLE     Follow-up of a major linkage peak on chromosome 1 reveals suggestive
            QTLs associated with essential hypertension: GenNet study
  JOURNAL   Eur J Hum Genet 17 (12), 1650-1657 (2009)
   PUBMED   19536175
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 2395)
  AUTHORS   Saito A, Kawamoto M and Kamatani N.
  TITLE     Association study between single-nucleotide polymorphisms in 199
            drug-related genes and commonly measured quantitative traits of 752
            healthy Japanese subjects
  JOURNAL   J Hum Genet 54 (6), 317-323 (2009)
   PUBMED   19343046
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2395)
  AUTHORS   Lin SW, Chen JC, Hsu LC, Hsieh CL and Yoshida A.
  TITLE     Human gamma-aminobutyraldehyde dehydrogenase (ALDH9): cDNA sequence,
            genomic organization, polymorphism, chromosomal localization, and
            tissue expression
  JOURNAL   Genomics 34 (3), 376-380 (1996)
   PUBMED   8786138
REFERENCE   7  (bases 1 to 2395)
  AUTHORS   Kikonyogo A and Pietruszko R.
  TITLE     Aldehyde dehydrogenase from adult human brain that dehydrogenates
            gamma-aminobutyraldehyde: purification, characterization, cloning
            and distribution
  JOURNAL   Biochem J 316 (Pt 1) (Pt 1), 317-324 (1996)
   PUBMED   8645224
REFERENCE   8  (bases 1 to 2395)
  AUTHORS   McPherson JD, Wasmuth JJ, Kurys G and Pietruszko R.
  TITLE     Human aldehyde dehydrogenase: chromosomal assignment of the gene for
            the isozyme that metabolizes gamma-aminobutyraldehyde
  JOURNAL   Hum Genet 93 (2), 211-212 (1994)
   PUBMED   8112751
REFERENCE   9  (bases 1 to 2395)
  AUTHORS   Kurys G, Shah PC, Kikonygo A, Reed D, Ambroziak W and Pietruszko R.
  TITLE     Human aldehyde dehydrogenase. cDNA cloning and primary structure of
            the enzyme that catalyzes dehydrogenation of 4-aminobutyraldehyde
  JOURNAL   Eur J Biochem 218 (2), 311-320 (1993)
   PUBMED   8269919
REFERENCE   10  (bases 1 to 2395)
  AUTHORS   Kurys G, Ambroziak W and Pietruszko R.
  TITLE     Human aldehyde dehydrogenase. Purification and characterization of a
            third isozyme with low Km for gamma-aminobutyraldehyde
  JOURNAL   J Biol Chem 264 (8), 4715-4721 (1989)
   PUBMED   2925663
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U34252.1, BC070030.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000354775.5/ ENSP00000346827.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL451074.13.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 9, 2021 this sequence version replaced NM_000696.3.
            Summary: This protein belongs to the aldehyde dehydrogenase family
            of proteins. It has a high activity for oxidation of
            gamma-aminobutyraldehyde and other amino aldehydes. The enzyme
            catalyzes the dehydrogenation of gamma-aminobutyraldehyde to
            gamma-aminobutyric acid (GABA). This isozyme is a tetramer of
            identical 54-kD subunits. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2395
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.1"
     gene            1..2395
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /note="aldehyde dehydrogenase 9 family member A1"
                     /db_xref="GeneID:223"
                     /db_xref="HGNC:HGNC:412"
                     /db_xref="MIM:602733"
     CDS             5..1561
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /EC_number="1.2.1.3"
                     /EC_number="1.2.1.19"
                     /EC_number="1.2.1.47"
                     /note="isoform 1 is encoded by transcript variant 1;
                     gamma-aminobutyraldehyde dehydrogenase;
                     4-trimethylaminobutyraldehyde dehydrogenase; aldehyde
                     dehydrogenase E3 isozyme; aldehyde dehydrogenase (NAD+);
                     R-aminobutyraldehyde dehydrogenase; aldehyde dehydrogenase
                     family 9 member A1"
                     /codon_start=1
                     /product="4-trimethylaminobutyraldehyde dehydrogenase
                     isoform 1"
                     /protein_id="NP_000687.3"
                     /db_xref="CCDS:CCDS1250.2"
                     /db_xref="GeneID:223"
                     /db_xref="HGNC:HGNC:412"
                     /db_xref="MIM:602733"
                     /translation="MFLRAGLAALSPLLRSLRPSPVAAMSTGTFVVSQPLNYRGGARVE
                     PADASGTEKAFEPATGRVIATFTCSGEKEVNLAVQNAKAAFKIWSQKSGMERCRILLEA
                     ARIIREREDEIATMECINNGKSIFEARLDIDISWQCLEYYAGLAASMAGEHIQLPGGSF
                     GYTRREPLGVCVGIGAWNYPFQIASWKSAPALACGNAMVFKPSPFTPVSALLLAEIYSE
                     AGVPPGLFNVVQGGAATGQFLCQHPDVAKVSFTGSVPTGMKIMEMSAKGIKPVTLELGG
                     KSPLIIFSDCDMNNAVKGALMANFLTQGQVCCNGTRVFVQKEILDKFTEEVVKQTQRIK
                     IGDPLLEDTRMGPLINRPHLERVLGFVKVAKEQGAKVLCGGDIYVPEDPKLKDGYYMRP
                     CVLTNCRDDMTCVKEEIFGPVMSILSFDTEAEVLERANDTTFGLAAGVFTRDIQRAHRV
                     VAELQAGTCFINNYNVSPVELPFGGYKKSGFGRENGRVTIEYYSQLKTVCVEMGDVESA
                     F"
     regulatory      2373..2378
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /note="hexamer: AATAAA"
     polyA_site      2395
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /note="major polyA site"
ORIGIN
        1 actcatgttt ctccgagcag gcctggccgc gctctccccg cttcttcgca gtcttcggcc
       61 ctctcctgtc gccgccatga gcactggcac cttcgtcgtg tcgcagccgc tcaattaccg
      121 cggcggggcc cgcgtggagc cggcggacgc ctccggtacc gagaaagctt tcgagccagc
      181 aaccggccga gtgatagcta ctttcacatg ttcaggagaa aaggaagtaa atttggctgt
      241 tcaaaatgca aaggctgctt ttaaaatatg gagtcaaaaa tctggcatgg agcgttgccg
      301 aatccttttg gaggctgcca ggataataag ggaacgggag gatgaaattg ctactatgga
      361 gtgcatcaac aatggcaagt ccatctttga ggcccgcttg gacattgaca tttcctggca
      421 gtgcctggag tattatgcgg gcttggctgc atccatggct ggtgaacaca tccagctccc
      481 aggtggatcg tttggttata ccagaagaga accacttggg gtatgtgtgg gaataggagc
      541 atggaactac ccctttcaga ttgcctcttg gaagtcggct ccagcattag cctgtggtaa
      601 tgccatggtc tttaaacctt ctccctttac acctgtttct gcattgctac tggctgaaat
      661 ctacagtgag gctggtgtac ctcctgggct cttcaatgtg gtgcagggag gggctgccac
      721 aggccagttt ctgtgtcagc atcccgatgt ggccaaagtc tccttcactg gaagtgtgcc
      781 cactggcatg aagatcatgg agatgtcagc taaaggaatc aaacctgtta ccttggaact
      841 tggaggcaaa tctccactca tcatcttctc agactgtgat atgaacaatg ctgtaaaggg
      901 ggcgctgatg gccaacttcc tcacacaagg ccaggtttgc tgtaatggca caagagtatt
      961 tgtgcagaaa gaaattcttg ataaatttac agaggaagtg gtgaaacaga cccaaaggat
     1021 taaaattgga gatccccttc tggaagatac aaggatgggt ccactcatca accgaccaca
     1081 cctggagcga gtccttgggt ttgtcaaagt ggcaaaggag cagggtgcta aagtgttatg
     1141 tggtggagat atatatgtac ctgaagatcc caaattaaag gatggatatt acatgagacc
     1201 ttgtgtatta actaattgca gagacgacat gacctgtgtg aaggaagaga tctttgggcc
     1261 tgttatgtcc attttatcat ttgacactga agctgaggtt ctagaaagag ccaatgatac
     1321 cacttttgga ctagcagctg gcgtctttac cagggacatc caacgggctc atagagtggt
     1381 agctgagctt caggctggga cgtgcttcat taacaactat aacgtcagcc cagtggagtt
     1441 gccctttggt ggatataaga agtcaggatt tggcagagag aacggccgtg tgacaatcga
     1501 atattattca cagctgaaga ctgtgtgtgt ggagatgggt gatgtggaat ctgctttttg
     1561 aaaacctgca gtgaaaccta ttgacatggc cacgctgtgg aatgatgtga attggccctg
     1621 tttacagagg cagtacaact gaatgttatt ttacatccag aattttggcg ttcagtataa
     1681 gagaatggtt catgttactc tttctctctc catcagcttc ctcactgaaa atgtgcatta
     1741 agtgccttgt agatactaat caagaaagct gtgattctcc tcaaagcgta tttttgtgaa
     1801 atcttttaag agccagtaac atacttctag agaacaggaa aagagactag gataatacat
     1861 cttccacaca tttggcccac tgataatgtt aattctctgg cgtatttcaa agaacttgtt
     1921 cctggctgat ccaagtgcag tggtatttac aactaattga tcacaaccag tttgtagatt
     1981 tctttgttcc ttctccattc ccactgcttc acttgcctag tcttgaagaa aaaaaacaaa
     2041 aaacaaaaaa aaaccttgtt cctttatagg ttcctggtag aatcagtaga gatgatttca
     2101 gctcattgac atttttttaa gctatatccc cttgtcattc cattgagaaa gctgacaact
     2161 gggataggga ggggattaga taatagatgg ggtcaaattc tgtgtgaatg tgaacttgcc
     2221 tagtaagcac tttgtctctg ttcactactg cgatagagga aatctatctc cctatcttgg
     2281 gtccttgaac tacagcctgc tgtcttacac cagtggagct accctttaaa tgtacaaatt
     2341 atttgtatgc taatgtaata tggtgaaatt aaaataaatc acactgttaa ttgtt
//
LOCUS       NM_000697               2392 bp    mRNA    linear   PRI 17-APR-2023
DEFINITION  Homo sapiens arachidonate 12-lipoxygenase, 12S type (ALOX12), mRNA.
ACCESSION   NM_000697
VERSION     NM_000697.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2392)
  AUTHORS   Canyelles-Nino M, Gonzalez-Lafont A and Lluch JM.
  TITLE     Hydroperoxidation of Docosahexaenoic Acid by Human ALOX12 and
            pigALOX15-mini-LOX
  JOURNAL   Int J Mol Sci 24 (7), 6064 (2023)
   PUBMED   37047037
  REMARK    GeneRIF: Hydroperoxidation of Docosahexaenoic Acid by Human ALOX12
            and pigALOX15-mini-LOX. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2392)
  AUTHORS   Tran M, Signorelli RL, Yamaguchi A, Chen E, Holinstat M, Iavarone
            AT, Offenbacher AR and Holman T.
  TITLE     Biochemical and hydrogen-deuterium exchange studies of the single
            nucleotide polymorphism Y649C in human platelet 12-lipoxygenase
            linked to a bleeding disorder
  JOURNAL   Arch Biochem Biophys 733, 109472 (2023)
   PUBMED   36442529
  REMARK    GeneRIF: Biochemical and hydrogen-deuterium exchange studies of the
            single nucleotide polymorphism Y649C in human platelet
            12-lipoxygenase linked to a bleeding disorder.
REFERENCE   3  (bases 1 to 2392)
  AUTHORS   Weng S, Liu Z, Xu H, Ge X, Ren Y, Dang Q, Liu L, Zhang J, Luo P, Ren
            J and Han X.
  TITLE     ALOX12: A Novel Insight in Bevacizumab Response, Immunotherapy
            Effect, and Prognosis of Colorectal Cancer
  JOURNAL   Front Immunol 13, 910582 (2022)
   PUBMED   35833141
  REMARK    GeneRIF: ALOX12: A Novel Insight in Bevacizumab Response,
            Immunotherapy Effect, and Prognosis of Colorectal Cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2392)
  AUTHORS   Chen S and Zou H.
  TITLE     Key Role of 12-Lipoxygenase and Its Metabolite
            12-Hydroxyeicosatetraenoic Acid (12-HETE) in Diabetic Retinopathy
  JOURNAL   Curr Eye Res 47 (3), 329-335 (2022)
   PUBMED   35129022
  REMARK    GeneRIF: Key Role of 12-Lipoxygenase and Its Metabolite
            12-Hydroxyeicosatetraenoic Acid (12-HETE) in Diabetic Retinopathy.
            Review article
REFERENCE   5  (bases 1 to 2392)
  AUTHORS   Contursi A, Schiavone S, Dovizio M, Hinz C, Fullone R, Tacconelli S,
            Tyrrell VJ, Grande R, Lanuti P, Marchisio M, Zucchelli M, Ballerini
            P, Lanas A, O'Donnell VB and Patrignani P.
  TITLE     Platelets induce free and phospholipid-esterified
            12-hydroxyeicosatetraenoic acid generation in colon cancer cells by
            delivering 12-lipoxygenase
  JOURNAL   J Lipid Res 62, 100109 (2021)
   PUBMED   34428433
  REMARK    GeneRIF: Platelets induce free and phospholipid-esterified
            12-hydroxyeicosatetraenoic acid generation in colon cancer cells by
            delivering 12-lipoxygenase.
REFERENCE   6  (bases 1 to 2392)
  AUTHORS   Yoshimoto T, Arakawa T, Hada T, Yamamoto S and Takahashi E.
  TITLE     Structure and chromosomal localization of human arachidonate
            12-lipoxygenase gene
  JOURNAL   J Biol Chem 267 (34), 24805-24809 (1992)
   PUBMED   1447217
REFERENCE   7  (bases 1 to 2392)
  AUTHORS   Funk CD, Funk LB, FitzGerald GA and Samuelsson B.
  TITLE     Characterization of human 12-lipoxygenase genes
  JOURNAL   Proc Natl Acad Sci U S A 89 (9), 3962-3966 (1992)
   PUBMED   1570320
REFERENCE   8  (bases 1 to 2392)
  AUTHORS   Hada T, Ueda N, Takahashi Y and Yamamoto S.
  TITLE     Catalytic properties of human platelet 12-lipoxygenase as compared
            with the enzymes of other origins
  JOURNAL   Biochim Biophys Acta 1083 (1), 89-93 (1991)
   PUBMED   1851637
REFERENCE   9  (bases 1 to 2392)
  AUTHORS   Yoshimoto T, Yamamoto Y, Arakawa T, Suzuki H, Yamamoto S, Yokoyama
            C, Tanabe T and Toh H.
  TITLE     Molecular cloning and expression of human arachidonate
            12-lipoxygenase
  JOURNAL   Biochem Biophys Res Commun 172 (3), 1230-1235 (1990)
   PUBMED   2244907
REFERENCE   10  (bases 1 to 2392)
  AUTHORS   Izumi T, Hoshiko S, Radmark O and Samuelsson B.
  TITLE     Cloning of the cDNA for human 12-lipoxygenase
  JOURNAL   Proc Natl Acad Sci U S A 87 (19), 7477-7481 (1990)
   PUBMED   2217179
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M62982.1, M35418.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145893,
            SAMEA2147975 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000251535.11/ ENSP00000251535.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC040977.10 and M58704.1.
            On Nov 23, 2018 this sequence version replaced NM_000697.2.
            Summary: This gene encodes a member of the lipoxygenase family of
            proteins. The encoded enzyme acts on different polyunsaturated
            fatty acid substrates to generate bioactive lipid mediators
            including eicosanoids and lipoxins. The encoded enzyme and its
            reaction products have been shown to regulate platelet function.
            Elevated expression of this gene has been observed in pancreatic
            islets derived from human diabetes patients. Allelic variants in
            this gene may be associated with susceptibility to toxoplasmosis.
            Multiple pseudogenes of this gene have been identified in the human
            genome. [provided by RefSeq, Aug 2017].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2392
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..2392
                     /gene="ALOX12"
                     /gene_synonym="12-LOX; 12S-LOX; LOG12"
                     /note="arachidonate 12-lipoxygenase, 12S type"
                     /db_xref="GeneID:239"
                     /db_xref="HGNC:HGNC:429"
                     /db_xref="MIM:152391"
     CDS             70..2061
                     /gene="ALOX12"
                     /gene_synonym="12-LOX; 12S-LOX; LOG12"
                     /EC_number="1.13.11.31"
                     /EC_number="1.13.11.33"
                     /note="platelet 12-LOX; platelet-type 12-lipoxygenase;
                     12S-lipoxygenase; platelet-type lipoxygenase 12;
                     Arachidonate 12-lipoxygenase, 12S-type; lipoxin synthase
                     12-LO; linoleate 13S-lipoxygenase; arachidonate
                     15-lipoxygenase,15S-type; arachidonate (12S)-lipoxygenase;
                     arachidonate (15S)-lipoxygenase"
                     /codon_start=1
                     /product="polyunsaturated fatty acid lipoxygenase ALOX12"
                     /protein_id="NP_000688.2"
                     /db_xref="CCDS:CCDS11084.1"
                     /db_xref="GeneID:239"
                     /db_xref="HGNC:HGNC:429"
                     /db_xref="MIM:152391"
                     /translation="MGRYRIRVATGAWLFSGSYNRVQLWLVGTRGEAELELQLRPARGE
                     EEEFDHDVAEDLGLLQFVRLRKHHWLVDDAWFCDRITVQGPGACAEVAFPCYRWVQGED
                     ILSLPEGTARLPGDNALDMFQKHREKELKDRQQIYCWATWKEGLPLTIAADRKDDLPPN
                     MRFHEEKRLDFEWTLKAGALEMALKRVYTLLSSWNCLEDFDQIFWGQKSALAEKVRQCW
                     QDDELFSYQFLNGANPMLLRRSTSLPSRLVLPSGMEELQAQLEKELQNGSLFEADFILL
                     DGIPANVIRGEKQYLAAPLVMLKMEPNGKLQPMVIQIQPPNPSSPTPTLFLPSDPPLAW
                     LLAKSWVRNSDFQLHEIQYHLLNTHLVAEVIAVATMRCLPGLHPIFKFLIPHIRYTMEI
                     NTRARTQLISDGGIFDKAVSTGGGGHVQLLRRAAAQLTYCSLCPPDDLADRGLLGLPGA
                     LYAHDALRLWEIIARYVEGIVHLFYQRDDIVKGDPELQAWCREITEVGLCQAQDRGFPV
                     SFQSQSQLCHFLTMCVFTCTAQHAAINQGQLDWYAWVPNAPCTMRMPPPTTKEDVTMAT
                     VMGSLPDVRQACLQMAISWHLSRRQPDMVPLGHHKEKYFSGPKPKAVLNQFRTDLEKLE
                     KEITARNEQLDWPYEYLKPSCIENSVTI"
     misc_feature    805..807
                     /gene="ALOX12"
                     /gene_synonym="12-LOX; 12S-LOX; LOG12"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:F1LQ70; propagated from
                     UniProtKB/Swiss-Prot (P18054.4); phosphorylation site"
     regulatory      2353..2358
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALOX12"
                     /gene_synonym="12-LOX; 12S-LOX; LOG12"
                     /note="hexamer: AATAAA"
     polyA_site      2392
                     /gene="ALOX12"
                     /gene_synonym="12-LOX; 12S-LOX; LOG12"
                     /note="major polyA site"
ORIGIN
        1 ggcagccctg ggcggtcccg ggaatcgcac aggacccggc tcccctcgcc taagctgctg
       61 gggggcgcca tgggccgcta ccgcatccgc gtggccaccg gggcctggct cttctccggg
      121 tcgtacaacc gcgtgcagct ttggctggtc gggacgcgcg gggaggcgga gctggagctg
      181 cagctgcggc ccgcgcgggg cgaggaggag gagtttgatc atgacgttgc agaggacttg
      241 gggctcctgc agttcgtgag gctgcgcaag caccactggc tggtggacga cgcgtggttc
      301 tgcgaccgca tcacggtgca gggccctgga gcctgcgcgg aggtggcctt cccgtgctac
      361 cgctgggtgc agggcgagga catcctgagc ctgcccgagg gcaccgcccg cctgccagga
      421 gacaatgctt tggacatgtt ccagaagcat cgagagaagg aactgaaaga cagacagcag
      481 atctactgct gggccacctg gaaggaaggg ttacccctga ccatcgctgc agaccgtaag
      541 gatgatctac ctccaaatat gagattccat gaggagaaga ggctggactt tgaatggaca
      601 ctgaaggcag gggctctgga gatggccctc aaacgtgttt acaccctcct gagctcctgg
      661 aactgcctag aagactttga tcagatcttc tggggccaga agagtgccct ggctgagaag
      721 gttcgccagt gctggcagga tgatgagttg ttcagctacc agttcctcaa tggtgccaac
      781 cccatgctgt tgagacgctc gacctctctg ccctccaggc tagtgctgcc ctcggggatg
      841 gaagagcttc aggctcaact ggagaaagaa cttcagaatg gttccctgtt tgaagctgac
      901 ttcatccttc tggatggaat tccagccaac gtgatccgag gagagaagca atacctggct
      961 gcccccctcg ttatgctgaa gatggagccc aatgggaagc tgcagcccat ggtcatccag
     1021 attcagcctc ccaaccccag ctctccaacc ccaacactgt tcctgccctc agacccccca
     1081 cttgcctggc tcctggcaaa gtcctgggtc cgaaattcag atttccaact gcacgagatc
     1141 cagtatcact tgctgaacac tcacctggtg gctgaggtca tcgctgtcgc caccatgcgg
     1201 tgcctcccag gactgcaccc catcttcaag ttcctgatcc cccatatccg ctacaccatg
     1261 gaaatcaaca cccgggcccg gacccaactc atctcagatg gaggaatttt tgataaggca
     1321 gtgagcacag gtggaggggg ccatgtacag ttgctccgtc gggcggcagc tcagctgacc
     1381 tactgctccc tctgtcctcc tgacgacctg gctgaccggg gcctgctggg actcccaggt
     1441 gctctctatg cccatgatgc tttacggctc tgggagatca ttgccaggta tgtggagggg
     1501 atcgtccacc tcttctacca aagggatgac atagtgaagg gggaccctga gctgcaggcc
     1561 tggtgtcggg agatcacgga ggtggggctg tgccaggccc aggaccgagg tttccctgtc
     1621 tccttccagt cccagagtca actctgccat ttcctcacca tgtgcgtctt cacgtgcact
     1681 gcccagcatg ccgccatcaa ccagggccag ctggactggt atgcctgggt ccctaatgct
     1741 ccatgcacaa tgcggatgcc cccacccacc accaaggaag atgtgacgat ggccacagtg
     1801 atggggtcac tacctgatgt ccggcaggcc tgtcttcaaa tggccatctc atggcatctg
     1861 agtcgccgcc agccagacat ggtgcctctg gggcaccaca aagaaaaata tttctcaggc
     1921 cccaagccca aagctgtgct aaaccaattc cgaacagatt tggaaaagct ggaaaaggag
     1981 attacagccc ggaatgagca acttgactgg ccctatgaat atctgaagcc cagctgcata
     2041 gagaacagtg tcaccatctg agccctagag tgactctacc tgcaagattt cacatcagct
     2101 ttaggactga catttctatc ttgaatttca tgctttccta aagtctctgc tgctaaggct
     2161 ctatttcctc ccccagttaa accccctaca ttagtatccc actagcccag gggagcagta
     2221 aactttctct gcaaagacta gatccttttt tacgctttgc agaccgcata gtcactgtct
     2281 caactactca gctctcctgc tgcagcatga aggcagccac agacaacatg gaaatgagtg
     2341 tgactatgtt ccaataaaac tttatggaca ctgagatatg aatgttacat ca
//
LOCUS       NM_000698               2519 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant
            1, mRNA.
ACCESSION   NM_000698
VERSION     NM_000698.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2519)
  AUTHORS   Wang M, Zeng G, Xiong B, Zhu X, Guo J, Chen D, Zhang S, Luo M, Guo L
            and Cai L.
  TITLE     ALOX5 promotes autophagy-dependent ferroptosis by activating the
            AMPK/mTOR pathway in melanoma
  JOURNAL   Biochem Pharmacol 212, 115554 (2023)
   PUBMED   37080437
  REMARK    GeneRIF: ALOX5 promotes autophagy-dependent ferroptosis by
            activating the AMPK/mTOR pathway in melanoma.
REFERENCE   2  (bases 1 to 2519)
  AUTHORS   Zhao Q, Sun Z, Pan Y, Jing Q, Li W and Wang C.
  TITLE     Role of ALOX5 in non-small cell lung cancer: A potential therapeutic
            target associated with immune cell infiltration
  JOURNAL   Zhong Nan Da Xue Xue Bao Yi Xue Ban 48 (3), 311-322 (2023)
   PUBMED   37164914
  REMARK    GeneRIF: Role of ALOX5 in non-small cell lung cancer: A potential
            therapeutic target associated with immune cell infiltration.
REFERENCE   3  (bases 1 to 2519)
  AUTHORS   Gong Y, Dai H, Liu W, Liao R, Chen H, Zhang L, Wang X and Chen Z.
  TITLE     Exosomes derived from human adipose-derived stem cells alleviate
            hepatic ischemia-reperfusion (I/R) injury through the miR-183/ALOX5
            axis
  JOURNAL   FASEB J 37 (3), e22782 (2023)
   PUBMED   36786721
  REMARK    GeneRIF: Exosomes derived from human adipose-derived stem cells
            alleviate hepatic ischemia-reperfusion (I/R) injury through the
            miR-183/ALOX5 axis.
REFERENCE   4  (bases 1 to 2519)
  AUTHORS   Dufrusine B, Valentinuzzi S, Bibbo S, Damiani V, Lanuti P,
            Pieragostino D, Del Boccio P, D'Alessandro E, Rabottini A, Berghella
            A, Allocati N, Falasca K, Ucciferri C, Mucedola F, Di Perna M,
            Martino L, Vecchiet J, De Laurenzi V and Dainese E.
  TITLE     Iron Dyshomeostasis in COVID-19: Biomarkers Reveal a Functional Link
            to 5-Lipoxygenase Activation
  JOURNAL   Int J Mol Sci 24 (1), 15 (2022)
   PUBMED   36613462
  REMARK    GeneRIF: Iron Dyshomeostasis in COVID-19: Biomarkers Reveal a
            Functional Link to 5-Lipoxygenase Activation. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 2519)
  AUTHORS   Xie S, Chen M, Fang W, Liu S, Wu Q, Liu C, Xing Y, Shi W, Xu M,
            Zhang M, Chen S, Zeng X, Wang S, Deng W and Tang Q.
  TITLE     Diminished arachidonate 5-lipoxygenase perturbs phase separation and
            transcriptional response of Runx2 to reverse pathological
            ventricular remodeling
  JOURNAL   EBioMedicine 86, 104359 (2022)
   PUBMED   36395739
  REMARK    GeneRIF: Diminished arachidonate 5-lipoxygenase perturbs phase
            separation and transcriptional response of Runx2 to reverse
            pathological ventricular remodeling.
REFERENCE   6  (bases 1 to 2519)
  AUTHORS   Ishii S, Noguchi M, Miyano M, Matsumoto T and Noma M.
  TITLE     Mutagenesis studies on the amino acid residues involved in the
            iron-binding and the activity of human 5-lipoxygenase
  JOURNAL   Biochem Biophys Res Commun 182 (3), 1482-1490 (1992)
   PUBMED   1540191
  REMARK    Erratum:[Biochem Biophys Res Commun. 1992 Apr 30;184(2):1133-4.
            PMID: 1575732]
REFERENCE   7  (bases 1 to 2519)
  AUTHORS   Nguyen T, Falgueyret JP, Abramovitz M and Riendeau D.
  TITLE     Evaluation of the role of conserved His and Met residues among
            lipoxygenases by site-directed mutagenesis of recombinant human
            5-lipoxygenase
  JOURNAL   J Biol Chem 266 (32), 22057-22062 (1991)
   PUBMED   1939225
REFERENCE   8  (bases 1 to 2519)
  AUTHORS   Hoshiko S, Radmark O and Samuelsson B.
  TITLE     Characterization of the human 5-lipoxygenase gene promoter
  JOURNAL   Proc Natl Acad Sci U S A 87 (23), 9073-9077 (1990)
   PUBMED   2251250
REFERENCE   9  (bases 1 to 2519)
  AUTHORS   Funk CD, Hoshiko S, Matsumoto T, Rdmark O and Samuelsson B.
  TITLE     Characterization of the human 5-lipoxygenase gene
  JOURNAL   Proc Natl Acad Sci U S A 86 (8), 2587-2591 (1989)
   PUBMED   2565035
REFERENCE   10  (bases 1 to 2519)
  AUTHORS   Matsumoto T, Funk CD, Radmark O, Hoog JO, Jornvall H and Samuelsson
            B.
  TITLE     Molecular cloning and amino acid sequence of human 5-lipoxygenase
  JOURNAL   Proc Natl Acad Sci U S A 85 (1), 26-30 (1988)
   PUBMED   2829172
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1988 May;85(10):3406]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.917501.1,
            SRR3476690.1169434.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374391.7/ ENSP00000363512.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC132677.1 and AW403395.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000698.4.
            Summary: This gene encodes a member of the lipoxygenase gene family
            and plays a dual role in the synthesis of leukotrienes from
            arachidonic acid. The encoded protein, which is expressed
            specifically in bone marrow-derived cells, catalyzes the conversion
            of arachidonic acid to
            5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and
            further to the allylic epoxide
            5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene
            A4). Leukotrienes are important mediators of a number of
            inflammatory and allergic conditions. Mutations in the promoter
            region of this gene lead to a diminished response to
            antileukotriene drugs used in the treatment of asthma and may also
            be associated with atherosclerosis and several cancers.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jan
            2012].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2519
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.21"
     gene            1..2519
                     /gene="ALOX5"
                     /gene_synonym="5-LO; 5-LOX; 5LPG; LOG5"
                     /note="arachidonate 5-lipoxygenase"
                     /db_xref="GeneID:240"
                     /db_xref="HGNC:HGNC:435"
                     /db_xref="MIM:152390"
     CDS             65..2089
                     /gene="ALOX5"
                     /gene_synonym="5-LO; 5-LOX; 5LPG; LOG5"
                     /EC_number="1.13.11.34"
                     /note="isoform 1 is encoded by transcript variant 1;
                     arachidonic acid 5-lipoxygenase; leukotriene A4 synthase;
                     LOX-5; polyunsaturated fatty acid 5-lipoxygenase"
                     /codon_start=1
                     /product="polyunsaturated fatty acid 5-lipoxygenase isoform
                     1"
                     /protein_id="NP_000689.1"
                     /db_xref="CCDS:CCDS7212.1"
                     /db_xref="GeneID:240"
                     /db_xref="HGNC:HGNC:435"
                     /db_xref="MIM:152390"
                     /translation="MPSYTVTVATGSQWFAGTDDYIYLSLVGSAGCSEKHLLDKPFYND
                     FERGAVDSYDVTVDEELGEIQLVRIEKRKYWLNDDWYLKYITLKTPHGDYIEFPCYRWI
                     TGDVEVVLRDGRAKLARDDQIHILKQHRRKELETRQKQYRWMEWNPGFPLSIDAKCHKD
                     LPRDIQFDSEKGVDFVLNYSKAMENLFINRFMHMFQSSWNDFADFEKIFVKISNTISER
                     VMNHWQEDLMFGYQFLNGCNPVLIRRCTELPEKLPVTTEMVECSLERQLSLEQEVQQGN
                     IFIVDFELLDGIDANKTDPCTLQFLAAPICLLYKNLANKIVPIAIQLNQIPGDENPIFL
                     PSDAKYDWLLAKIWVRSSDFHVHQTITHLLRTHLVSEVFGIAMYRQLPAVHPIFKLLVA
                     HVRFTIAINTKAREQLICECGLFDKANATGGGGHVQMVQRAMKDLTYASLCFPEAIKAR
                     GMESKEDIPYYFYRDDGLLVWEAIRTFTAEVVDIYYEGDQVVEEDPELQDFVNDVYVYG
                     MRGRKSSGFPKSVKSREQLSEYLTVVIFTASAQHAAVNFGQYDWCSWIPNAPPTMRAPP
                     PTAKGVVTIEQIVDTLPDRGRSCWHLGAVWALSQFQENELFLGMYPEEHFIEKPVKEAM
                     ARFRKNLEAIVSVIAERNKKKQLPYYYLSPDRIPNSVAI"
     misc_feature    371..373
                     /gene="ALOX5"
                     /gene_synonym="5-LO; 5-LOX; 5LPG; LOG5"
                     /note="Essential for stabilizing binding to COTL1.
                     /evidence=ECO:0000269|PubMed:19807693; propagated from
                     UniProtKB/Swiss-Prot (P09917.2); other site"
     misc_feature    878..880
                     /gene="ALOX5"
                     /gene_synonym="5-LO; 5-LOX; 5LPG; LOG5"
                     /note="Phosphoserine, by MAPKAPK2.
                     /evidence=ECO:0000269|PubMed:11844797,
                     ECO:0000269|PubMed:18978352; propagated from
                     UniProtKB/Swiss-Prot (P09917.2); phosphorylation site"
     misc_feature    1634..1636
                     /gene="ALOX5"
                     /gene_synonym="5-LO; 5-LOX; 5LPG; LOG5"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:15280375,
                     ECO:0000269|PubMed:26210919; propagated from
                     UniProtKB/Swiss-Prot (P09917.2); phosphorylation site"
     regulatory      2499..2504
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALOX5"
                     /gene_synonym="5-LO; 5-LOX; 5LPG; LOG5"
                     /note="hexamer: AATAAA"
     polyA_site      2519
                     /gene="ALOX5"
                     /gene_synonym="5-LO; 5-LOX; 5LPG; LOG5"
                     /note="major polyA site"
ORIGIN
        1 agatgcggac acctggaccg ccgcgccgag gctcccggcg ctcgctgctc ccgcggcccg
       61 cgccatgccc tcctacacgg tcaccgtggc cactggcagc cagtggttcg ccggcactga
      121 cgactacatc tacctcagcc tcgtgggctc ggcgggctgc agcgagaagc acctgctgga
      181 caagcccttc tacaacgact tcgagcgtgg cgcggtggat tcatacgacg tgactgtgga
      241 cgaggaactg ggcgagatcc agctggtcag aatcgagaag cgcaagtact ggctgaatga
      301 cgactggtac ctgaagtaca tcacgctgaa gacgccccac ggggactaca tcgagttccc
      361 ctgctaccgc tggatcaccg gcgatgtcga ggttgtcctg agggatggac gcgcaaagtt
      421 ggcccgagat gaccaaattc acattctcaa gcaacaccga cgtaaagaac tggaaacacg
      481 gcaaaaacaa tatcgatgga tggagtggaa ccctggcttc cccttgagca tcgatgccaa
      541 atgccacaag gatttacccc gtgatatcca gtttgatagt gaaaaaggag tggactttgt
      601 tctgaattac tccaaagcga tggagaacct gttcatcaac cgcttcatgc acatgttcca
      661 gtcttcttgg aatgacttcg ccgactttga gaaaatcttt gtcaagatca gcaacactat
      721 ttctgagcgg gtcatgaatc actggcagga agacctgatg tttggctacc agttcctgaa
      781 tggctgcaac cctgtgttga tccggcgctg cacagagctg cccgagaagc tcccggtgac
      841 cacggagatg gtagagtgca gcctggagcg gcagctcagc ttggagcagg aggtccagca
      901 agggaacatt ttcatcgtgg actttgagct gctggatggc atcgatgcca acaaaacaga
      961 cccctgcaca ctccagttcc tggccgctcc catctgcttg ctgtataaga acctggccaa
     1021 caagattgtc cccattgcca tccagctcaa ccaaatcccg ggagatgaga accctatttt
     1081 cctcccttcg gatgcaaaat acgactggct tttggccaaa atctgggtgc gttccagtga
     1141 cttccacgtc caccagacca tcacccacct tctgcgaaca catctggtgt ctgaggtttt
     1201 tggcattgca atgtaccgcc agctgcctgc tgtgcacccc attttcaagc tgctggtggc
     1261 acacgtgaga ttcaccattg caatcaacac caaggcccgt gagcagctca tctgcgagtg
     1321 tggcctcttt gacaaggcca acgccacagg gggcggtggg cacgtgcaga tggtgcagag
     1381 ggccatgaag gacctgacct atgcctccct gtgctttccc gaggccatca aggcccgggg
     1441 catggagagc aaagaagaca tcccctacta cttctaccgg gacgacgggc tcctggtgtg
     1501 ggaagccatc aggacgttca cggccgaggt ggtagacatc tactacgagg gcgaccaggt
     1561 ggtggaggag gacccggagc tgcaggactt cgtgaacgat gtctacgtgt acggcatgcg
     1621 gggccgcaag tcctcaggct tccccaagtc ggtcaagagc cgggagcagc tgtcggagta
     1681 cctgaccgtg gtgatcttca ccgcctccgc ccagcacgcc gcggtcaact tcggccagta
     1741 cgactggtgc tcctggatcc ccaatgcgcc cccaaccatg cgagccccgc caccgactgc
     1801 caagggcgtg gtgaccattg agcagatcgt ggacacgctg cccgaccgcg gccgctcctg
     1861 ctggcatctg ggtgcagtgt gggcgctgag ccagttccag gaaaacgagc tgttcctggg
     1921 catgtaccca gaagagcatt ttatcgagaa gcctgtgaag gaagccatgg cccgattccg
     1981 caagaacctc gaggccattg tcagcgtgat tgctgagcgc aacaagaaga agcagctgcc
     2041 atattactac ttgtccccag accggattcc gaacagtgtg gccatctgag cacactgcca
     2101 gtctcactgt gggaaggcca gctgccccag ccagatggac tccagcctgc ctggcaggct
     2161 gtctggccag gcctcttggc agtcacatct cttcctccga ggccagtacc tttccattta
     2221 ttctttgatc ttcagggaac tgcatagatt gatcaaagtg taaacaccat agggacccat
     2281 tctacacaga gcaggactgc acagcgtcct gtccacaccc agctcagcat ttccacacca
     2341 agcagcaaca gcaaatcacg accactgata gatgtctatt cttgttggag acatgggatg
     2401 attattttct gttctatttg tgcttagtcc aattccttgc acatagtagg tacccaattc
     2461 aattactatt gaatgaatta agaattggtt gccataaaaa taaatcagtt catttaaaa
//
LOCUS       NM_000699               1584 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens amylase alpha 2A (AMY2A), mRNA.
ACCESSION   NM_000699
VERSION     NM_000699.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1584)
  AUTHORS   Osman W, Ismail EMOA, Shantier SW, Mohammed MS, Mothana RA,
            Muddathir A and Khalid HS.
  TITLE     In silico assessment of potential leads identified from Bauhinia
            rufescens Lam. as alpha-glucosidase and alpha-amylase inhibitors
  JOURNAL   J Recept Signal Transduct Res 41 (2), 159-169 (2021)
   PUBMED   32718219
  REMARK    GeneRIF: In silico assessment of potential leads identified from
            Bauhinia rufescens Lam. as alpha-glucosidase and alpha-amylase
            inhibitors.
REFERENCE   2  (bases 1 to 1584)
  AUTHORS   Vazquez-Moreno M, Mejia-Benitez A, Sharma T, Peralta-Romero J,
            Locia-Morales D, Klunder-Klunder M, Cruz M and Meyre D.
  CONSRTM   National Obesity Network Mexico
  TITLE     Association of AMY1A/AMY2A copy numbers and AMY1/AMY2 serum
            enzymatic activity with obesity in Mexican children
  JOURNAL   Pediatr Obes 15 (8), e12641 (2020)
   PUBMED   32314532
  REMARK    GeneRIF: Association of AMY1A/AMY2A copy numbers and AMY1/AMY2 serum
            enzymatic activity with obesity in Mexican children.
REFERENCE   3  (bases 1 to 1584)
  AUTHORS   Heianza Y, Sun D, Wang T, Huang T, Bray GA, Sacks FM and Qi L.
  TITLE     Starch Digestion-Related Amylase Genetic Variant Affects 2-Year
            Changes in Adiposity in Response to Weight-Loss Diets: The POUNDS
            Lost Trial
  JOURNAL   Diabetes 66 (9), 2416-2423 (2017)
   PUBMED   28659346
  REMARK    GeneRIF: It was concluded that the genetic variant determining
            starch metabolism influences the response to weight-loss dietary
            intervention. Overweight and obese individuals carrying the
            AMY1-AMY2 rs11185098 genotype associated with higher amylase
            activity may have greater loss of adiposity during low-calorie diet
            interventions.
REFERENCE   4  (bases 1 to 1584)
  AUTHORS   Tak YJ, Yi YH, Lee SY, Kim YJ, Lee JG and Cho YH.
  TITLE     Relationships Between Fasting Serum Amylase and Ghrelin or Peptide
            YY3-36 Levels in Healthy Men
  JOURNAL   Pancreas 45 (3), 376-380 (2016)
   PUBMED   26495778
  REMARK    GeneRIF: Data show that serum amylase was found to be correlated
            with waist circumference, ghrelin and PYY3-36. Erratum:[Pancreas.
            2016 May-Jun;45(5):e22. PMID: 27077721]
REFERENCE   5  (bases 1 to 1584)
  AUTHORS   Sanchez Castanon M, Zuliani V, Amodio A, Campagnola P, Granato A,
            Gabbrielli A, Benini L, Lopez Hoyos M and Frulloni L.
  TITLE     Role of Amylase-alpha2A Autoantibodies in the Diagnosis of
            Autoimmune Pancreatitis
  JOURNAL   Pancreas 44 (7), 1078-1082 (2015)
   PUBMED   26335011
  REMARK    GeneRIF: Data show that amylase-alpha2A autoantibodies may help to
            diagnosis of autoimmune pancreatitis (AIP) and to differentiate AIP
            subtypes.
REFERENCE   6  (bases 1 to 1584)
  AUTHORS   Jacob M, Laine J and LeBel D.
  TITLE     Specific interactions of pancreatic amylase at acidic pH. Amylase
            and the major protein of the zymogen granule membrane (GP-2) bind to
            immobilized or polymerized amylase
  JOURNAL   Biochem Cell Biol 70 (10-11), 1105-1114 (1992)
   PUBMED   1284286
REFERENCE   7  (bases 1 to 1584)
  AUTHORS   Groot PC, Mager WH and Frants RR.
  TITLE     Interpretation of polymorphic DNA patterns in the human
            alpha-amylase multigene family
  JOURNAL   Genomics 10 (3), 779-785 (1991)
   PUBMED   1679752
REFERENCE   8  (bases 1 to 1584)
  AUTHORS   Groot PC, Mager WH, Henriquez NV, Pronk JC, Arwert F, Planta RJ,
            Eriksson AW and Frants RR.
  TITLE     Evolution of the human alpha-amylase multigene family through
            unequal, homologous, and inter- and intrachromosomal crossovers
  JOURNAL   Genomics 8 (1), 97-105 (1990)
   PUBMED   2081604
REFERENCE   9  (bases 1 to 1584)
  AUTHORS   Rosenblum,B.B. and Merritt,A.D.
  TITLE     Human pancreatic alpha-amylase: phenotypic codominance and new
            electrophoretic variants
  JOURNAL   Am J Hum Genet 30 (4), 434-441 (1978)
   PUBMED   309725
REFERENCE   10  (bases 1 to 1584)
  AUTHORS   Kaczmarek,M.J. and Rosenmund,H.
  TITLE     The action of human pancreatic and salivary isoamylases on starch
            and glycogen
  JOURNAL   Clin Chim Acta 79 (1), 69-73 (1977)
   PUBMED   890964
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC007060.1, M28443.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000414303.7/ ENSP00000397582.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC105272.2.
            On Oct 5, 2020 this sequence version replaced NM_000699.3.
            Summary: This gene encodes a member of the alpha-amylase family of
            proteins. Amylases are secreted proteins that hydrolyze
            1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides,
            catalyzing the first step in digestion of dietary starch and
            glycogen. This gene and several family members are present in a
            gene cluster on chromosome 1. This gene encodes an amylase
            isoenzyme produced by the pancreas. [provided by RefSeq, Jan 2015].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1584
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.1"
     gene            1..1584
                     /gene="AMY2A"
                     /gene_synonym="AMY2; PA"
                     /note="amylase alpha 2A"
                     /db_xref="GeneID:279"
                     /db_xref="HGNC:HGNC:477"
                     /db_xref="MIM:104650"
     CDS             15..1550
                     /gene="AMY2A"
                     /gene_synonym="AMY2; PA"
                     /EC_number="3.2.1.1"
                     /note="1,4-alpha-D-glucan glucanohydrolase; glycogenase;
                     pancreatic amylase alpha 2A; pancreatic alpha-amylase;
                     amylase alpha 2A (pancreatic)"
                     /codon_start=1
                     /product="pancreatic alpha-amylase precursor"
                     /protein_id="NP_000690.1"
                     /db_xref="CCDS:CCDS783.1"
                     /db_xref="GeneID:279"
                     /db_xref="HGNC:HGNC:477"
                     /db_xref="MIM:104650"
                     /translation="MKFFLLLFTIGFCWAQYSPNTQQGRTSIVHLFEWRWVDIALECER
                     YLAPKGFGGVQVSPPNENVAIYNPFRPWWERYQPVSYKLCTRSGNEDEFRNMVTRCNNV
                     GVRIYVDAVINHMCGNAVSAGTSSTCGSYFNPGSRDFPAVPYSGWDFNDGKCKTGSGDI
                     ENYNDATQVRDCRLTGLLDLALEKDYVRSKIAEYMNHLIDIGVAGFRLDASKHMWPGDI
                     KAILDKLHNLNSNWFPAGSKPFIYQEVIDLGGEPIKSSDYFGNGRVTEFKYGAKLGTVI
                     RKWNGEKMSYLKNWGEGWGFVPSDRALVFVDNHDNQRGHGAGGASILTFWDARLYKMAV
                     GFMLAHPYGFTRVMSSYRWPRQFQNGNDVNDWVGPPNNNGVIKEVTINPDTTCGNDWVC
                     EHRWRQIRNMVIFRNVVDGQPFTNWYDNGSNQVAFGRGNRGFIVFNNDDWSFSLTLQTG
                     LPAGTYCDVISGDKINGNCTGIKIYVSDDGKAHFSISNSAEDPFIAIHAESKL"
     sig_peptide     15..59
                     /gene="AMY2A"
                     /gene_synonym="AMY2; PA"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     60..1547
                     /gene="AMY2A"
                     /gene_synonym="AMY2; PA"
                     /product="Pancreatic alpha-amylase. /id=PRO_0000001397"
                     /note="propagated from UniProtKB/Swiss-Prot (P04746.2)"
     misc_feature    60..62
                     /gene="AMY2A"
                     /gene_synonym="AMY2; PA"
                     /note="Pyrrolidone carboxylic acid.
                     /evidence=ECO:0000269|PubMed:11772019,
                     ECO:0000269|PubMed:8528071; propagated from
                     UniProtKB/Swiss-Prot (P04746.2);
                     pyrrolidone-carboxylic-acid site"
     misc_feature    957..959
                     /gene="AMY2A"
                     /gene_synonym="AMY2; PA"
                     /note="Transition state stabilizer.
                     /evidence=ECO:0000305|PubMed:10091666,
                     ECO:0000305|PubMed:10769135, ECO:0000305|PubMed:11914097;
                     propagated from UniProtKB/Swiss-Prot (P04746.2); other
                     site"
     misc_feature    1440..1442
                     /gene="AMY2A"
                     /gene_synonym="AMY2; PA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:10091666,
                     ECO:0000269|PubMed:10769135, ECO:0000269|PubMed:11772019;
                     propagated from UniProtKB/Swiss-Prot (P04746.2);
                     glycosylation site"
ORIGIN
        1 aacttcaaag caaaatgaag ttctttctgt tgcttttcac cattgggttc tgctgggctc
       61 agtattcccc aaatacacaa caaggacgga catctattgt tcatctgttt gaatggcgat
      121 gggttgatat tgctcttgaa tgtgagcgat atttagctcc gaagggattt ggaggggttc
      181 aggtctctcc accaaatgaa aatgttgcaa tttacaaccc tttcagacct tggtgggaaa
      241 gataccaacc agttagctat aaattatgca caagatctgg aaatgaagat gaatttagaa
      301 acatggtgac tagatgtaac aatgttgggg ttcgtattta tgtggatgct gtaattaatc
      361 atatgtgtgg taacgctgtg agtgcaggaa caagcagtac ctgtggaagt tacttcaacc
      421 ctggaagtag ggactttcca gcagtcccat attctggatg ggatttcaat gatggtaaat
      481 gtaaaactgg aagtggagat atcgagaact acaatgatgc tactcaggtc agagattgtc
      541 gtctgactgg tcttcttgat cttgcactgg agaaggatta cgtgcgttct aagattgccg
      601 aatatatgaa ccatctcatt gacattggtg ttgcagggtt cagacttgat gcttccaagc
      661 acatgtggcc tggagacata aaggcaattt tggacaaact gcataatcta aacagtaact
      721 ggttccctgc aggaagtaaa cctttcattt accaggaggt aattgatctg ggtggtgagc
      781 caattaaaag cagtgactac tttggtaatg gccgggtgac agaattcaag tatggtgcaa
      841 aactcggcac agttattcgc aagtggaatg gagagaagat gtcttactta aagaactggg
      901 gagaaggttg gggtttcgta ccttctgaca gagcgcttgt ctttgtggat aaccatgaca
      961 atcaacgagg acatggggct ggaggagcct ctattcttac cttctgggat gctaggctgt
     1021 acaaaatggc agttggattt atgcttgctc atccttacgg atttacacga gtaatgtcaa
     1081 gctaccgttg gccaagacag tttcaaaatg gaaacgatgt taatgattgg gttgggccac
     1141 caaataataa tggagtaatt aaagaagtta ctattaatcc agacactact tgtggcaatg
     1201 actgggtctg tgaacatcga tggcgccaaa taaggaacat ggttattttc cgcaatgtag
     1261 tggatggcca gccttttaca aattggtatg ataatgggag caaccaagtg gcttttggga
     1321 gaggaaacag aggattcatt gttttcaaca atgatgactg gtcattttct ttaactttgc
     1381 aaactggtct tcctgctggc acatactgtg atgtcatttc tggagataaa attaatggca
     1441 attgcacagg cattaaaatt tacgtttctg atgatggcaa agctcatttt tctattagta
     1501 actctgctga agatccattt attgcaattc atgctgaatc taaattgtaa aatttaaaat
     1561 taaatgcatg tcctcaaaac aata
//
LOCUS       NM_000700               1401 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens annexin A1 (ANXA1), mRNA.
ACCESSION   NM_000700
VERSION     NM_000700.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1401)
  AUTHORS   Shenoy RD, Nithin Kuriakose, Vijaykrishnaraj M, Patil P, Jayaswamy
            PK, Alagundagi DB and Shetty P.
  TITLE     Tissue plasminogen activator receptor ANXA2 and its complementary
            regulator anti-inflammatory ANXA1 as prognostic indicators of
            inflammatory response in COVID-19 pathogenesis
  JOURNAL   Immunobiology 228 (5), 152728 (2023)
   PUBMED   37579635
  REMARK    GeneRIF: Tissue plasminogen activator receptor ANXA2 and its
            complementary regulator anti-inflammatory ANXA1 as prognostic
            indicators of inflammatory response in COVID-19 pathogenesis.
REFERENCE   2  (bases 1 to 1401)
  AUTHORS   Song Z, Wang X, Liu X, Luo Y, Qiu J, Yin A, Liu Y, Yi H, Xiao Z and
            Li A.
  TITLE     Targeting of Annexin A1 in Tumor-associated Macrophages as a
            therapeutic strategy for hepatocellular carcinoma
  JOURNAL   Biochem Pharmacol 213, 115612 (2023)
   PUBMED   37209858
  REMARK    GeneRIF: Targeting of Annexin A1 in Tumor-associated Macrophages as
            a therapeutic strategy for hepatocellular carcinoma.
REFERENCE   3  (bases 1 to 1401)
  AUTHORS   Resende F, Araujo S, Tavares LP, Teixeira MM and Costa VV.
  TITLE     The Multifaceted Role of Annexin A1 in Viral Infections
  JOURNAL   Cells 12 (8), 1131 (2023)
   PUBMED   37190040
  REMARK    GeneRIF: The Multifaceted Role of Annexin A1 in Viral Infections.
            Review article Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1401)
  AUTHORS   Shi X, Wu Y, Tang L, Ni H and Xu Y.
  TITLE     Downregulated annexin A1 expression correlates with poor prognosis,
            metastasis, and immunosuppressive microenvironment in Ewing's
            sarcoma
  JOURNAL   Aging (Albany NY) 15 (6), 2321-2346 (2023)
   PUBMED   36988561
  REMARK    GeneRIF: Downregulated annexin A1 expression correlates with poor
            prognosis, metastasis, and immunosuppressive microenvironment in
            Ewing's sarcoma.
REFERENCE   5  (bases 1 to 1401)
  AUTHORS   Kovacic RT, Tizard R, Cate RL, Frey AZ and Wallner BP.
  TITLE     Correlation of gene and protein structure of rat and human
            lipocortin I
  JOURNAL   Biochemistry 30 (37), 9015-9021 (1991)
   PUBMED   1832554
REFERENCE   6  (bases 1 to 1401)
  AUTHORS   Ando Y, Imamura S, Owada MK and Kannagi R.
  TITLE     Calcium-induced intracellular cross-linking of lipocortin I by
            tissue transglutaminase in A431 cells. Augmentation by membrane
            phospholipids
  JOURNAL   J Biol Chem 266 (2), 1101-1108 (1991)
   PUBMED   1670773
REFERENCE   7  (bases 1 to 1401)
  AUTHORS   Blackwood RA and Ernst JD.
  TITLE     Characterization of Ca2(+)-dependent phospholipid binding, vesicle
            aggregation and membrane fusion by annexins
  JOURNAL   Biochem J 266 (1), 195-200 (1990)
   PUBMED   2138016
REFERENCE   8  (bases 1 to 1401)
  AUTHORS   Pepinsky RB, Sinclair LK, Chow EP and O'Brine-Greco B.
  TITLE     A dimeric form of lipocortin-1 in human placenta
  JOURNAL   Biochem J 263 (1), 97-103 (1989)
   PUBMED   2532504
REFERENCE   9  (bases 1 to 1401)
  AUTHORS   Varticovski L, Chahwala SB, Whitman M, Cantley L, Schindler D, Chow
            EP, Sinclair LK and Pepinsky RB.
  TITLE     Location of sites in human lipocortin I that are phosphorylated by
            protein tyrosine kinases and protein kinases A and C
  JOURNAL   Biochemistry 27 (10), 3682-3690 (1988)
   PUBMED   2457390
REFERENCE   10  (bases 1 to 1401)
  AUTHORS   Wallner,B.P., Mattaliano,R.J., Hession,C., Cate,R.L., Tizard,R.,
            Sinclair,L.K., Foeller,C., Chow,E.P., Browing,J.L.,
            Ramachandran,K.L. et al.
  TITLE     Cloning and expression of human lipocortin, a phospholipase A2
            inhibitor with potential anti-inflammatory activity
  JOURNAL   Nature 320 (6057), 77-81 (1986)
   PUBMED   2936963
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.120863.1,
            SRR5189652.240234.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000257497.11/ ENSP00000257497.6
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X05908.1, AL359997.8 and
            AA039737.1.
            On Nov 23, 2018 this sequence version replaced NM_000700.2.
            Summary: This gene encodes a membrane-localized protein that binds
            phospholipids. This protein inhibits phospholipase A2 and has
            anti-inflammatory activity. Loss of function or expression of this
            gene has been detected in multiple tumors. [provided by RefSeq, Dec
            2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1401
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.13"
     gene            1..1401
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="annexin A1"
                     /db_xref="GeneID:301"
                     /db_xref="HGNC:HGNC:533"
                     /db_xref="MIM:151690"
     misc_feature    1
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="transcription start site identified in PMID:2936963"
     CDS             75..1115
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="annexin I (lipocortin I); annexin-1; calpactin-2;
                     calpactin II; chromobindin-9; phospholipase A2 inhibitory
                     protein; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="annexin A1"
                     /protein_id="NP_000691.1"
                     /db_xref="CCDS:CCDS6645.1"
                     /db_xref="GeneID:301"
                     /db_xref="HGNC:HGNC:533"
                     /db_xref="MIM:151690"
                     /translation="MAMVSEFLKQAWFIENEEQEYVQTVKSSKGGPGSAVSPYPTFNPS
                     SDVAALHKAIMVKGVDEATIIDILTKRNNAQRQQIKAAYLQETGKPLDETLKKALTGHL
                     EEVVLALLKTPAQFDADELRAAMKGLGTDEDTLIEILASRTNKEIRDINRVYREELKRD
                     LAKDITSDTSGDFRNALLSLAKGDRSEDFGVNEDLADSDARALYEAGERRKGTDVNVFN
                     TILTTRSYPQLRRVFQKYTKYSKHDMNKVLDLELKGDIEKCLTAIVKCATSKPAFFAEK
                     LHQAMKGVGTRHKALIRIMVSRSEIDMNDIKAFYQKMYGISLCQAILDETKGDYEKILV
                     ALCGGN"
     mat_peptide     78..152
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /product="Annexin Ac2-26.
                     /evidence=ECO:0000269|PubMed:22879591. /id=PRO_0000454556"
                     /note="propagated from UniProtKB/Swiss-Prot (P04083.2)"
     misc_feature    78..80
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000269|PubMed:3303336; propagated from
                     UniProtKB/Swiss-Prot (P04083.2); acetylation site"
     misc_feature    87..89
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="Phosphoserine, by TRPM7.
                     /evidence=ECO:0000269|PubMed:15485879; propagated from
                     UniProtKB/Swiss-Prot (P04083.2); phosphorylation site"
     misc_feature    135..137
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="Phosphotyrosine, by EGFR.
                     /evidence=ECO:0000269|PubMed:2457390; propagated from
                     UniProtKB/Swiss-Prot (P04083.2); phosphorylation site"
     misc_feature    150..155
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="Cleavage, by CTSG.
                     /evidence=ECO:0000269|PubMed:22879591; propagated from
                     UniProtKB/Swiss-Prot (P04083.2); cleavage site"
     misc_feature    153..155
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000269|PubMed:2457390; propagated from
                     UniProtKB/Swiss-Prot (P04083.2); phosphorylation site"
     misc_feature    174..176
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P04083.2); phosphorylation site"
     misc_feature    183..185
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P04083.2); phosphorylation site"
     misc_feature    195..197
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P04083.2); phosphorylation site"
     misc_feature    198..413
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P04083.2);
                     Region: Annexin 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01245"
     misc_feature    246..248
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P10107; propagated from
                     UniProtKB/Swiss-Prot (P04083.2); acetylation site"
     misc_feature    414..629
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P04083.2);
                     Region: Annexin 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01245"
     misc_feature    480..482
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P04083.2); phosphorylation site"
     misc_feature    663..881
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P04083.2);
                     Region: Annexin 3.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01245"
     misc_feature    789..791
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P04083.2); acetylation site"
     misc_feature    891..1106
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="propagated from UniProtKB/Swiss-Prot (P04083.2);
                     Region: Annexin 4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01245"
     misc_feature    1008..1010
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P04083.2); acetylation site"
     regulatory      1379..1384
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="hexamer: AATAAA"
     polyA_site      1401
                     /gene="ANXA1"
                     /gene_synonym="ANX1; LPC1"
                     /note="major polyA site"
ORIGIN
        1 agtgtgaaat cttcagagaa gaatttctct ttagttcttt gcaagaaggt agagataaag
       61 acactttttc aaaaatggca atggtatcag aattcctcaa gcaggcctgg tttattgaaa
      121 atgaagagca ggaatatgtt caaactgtga agtcatccaa aggtggtccc ggatcagcgg
      181 tgagccccta tcctaccttc aatccatcct cggatgtcgc tgccttgcat aaggccataa
      241 tggttaaagg tgtggatgaa gcaaccatca ttgacattct aactaagcga aacaatgcac
      301 agcgtcaaca gatcaaagca gcatatctcc aggaaacagg aaagcccctg gatgaaacac
      361 tgaagaaagc ccttacaggt caccttgagg aggttgtttt agctctgcta aaaactccag
      421 cgcaatttga tgctgatgaa cttcgtgctg ccatgaaggg ccttggaact gatgaagata
      481 ctctaattga gattttggca tcaagaacta acaaagaaat cagagacatt aacagggtct
      541 acagagagga actgaagaga gatctggcca aagacataac ctcagacaca tctggagatt
      601 ttcggaacgc tttgctttct cttgctaagg gtgaccgatc tgaggacttt ggtgtgaatg
      661 aagacttggc tgattcagat gccagggcct tgtatgaagc aggagaaagg agaaagggga
      721 cagacgtaaa cgtgttcaat accatcctta ccaccagaag ctatccacaa cttcgcagag
      781 tgtttcagaa atacaccaag tacagtaagc atgacatgaa caaagttctg gacctggagt
      841 tgaaaggtga cattgagaaa tgcctcacag ctatcgtgaa gtgcgccaca agcaaaccag
      901 ctttctttgc agagaagctt catcaagcca tgaaaggtgt tggaactcgc cataaggcat
      961 tgatcaggat tatggtttcc cgttctgaaa ttgacatgaa tgatatcaaa gcattctatc
     1021 agaagatgta tggtatctcc ctttgccaag ccatcctgga tgaaaccaaa ggagattatg
     1081 agaaaatcct ggtggctctt tgtggaggaa actaaacatt cccttgatgg tctcaagcta
     1141 tgatcagaag actttaatta tatattttca tcctataagc ttaaatagga aagtttcttc
     1201 aacaggatta cagtgtagct acctacatgc tgaaaaatat agcctttaaa tcatttttat
     1261 attataactc tgtataatag agataagtcc attttttaaa aatgttttcc ccaaaccata
     1321 aaaccctata caagttgttc tagtaacaat acatgagaaa gatgtctatg tagctgaaaa
     1381 taaaatgacg tcacaagaca a
//
LOCUS       NM_000701               3670 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens ATPase Na+/K+ transporting subunit alpha 1 (ATP1A1),
            transcript variant 1, mRNA.
ACCESSION   NM_000701
VERSION     NM_000701.8
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3670)
  AUTHORS   Silkuniene G, Mangalanathan UM, Pakhomov AG and Pakhomova ON.
  TITLE     Silencing of ATP1A1 attenuates cell membrane disruption by
            nanosecond electric pulses
  JOURNAL   Biochem Biophys Res Commun 677, 93-97 (2023)
   PUBMED   37566922
  REMARK    GeneRIF: Silencing of ATP1A1 attenuates cell membrane disruption by
            nanosecond electric pulses.
REFERENCE   2  (bases 1 to 3670)
  AUTHORS   Sumiyoshi S, Shiozaki A, Kosuga T, Simizu H, Kudo M, Kiuchi J, Arita
            T, Konishi H, Komatsu S, Kuriu Y, Kubota T, Fujiwara H, Morinaga Y,
            Konishi E and Otsuji E.
  TITLE     Functional Analysis and Clinical Importance of ATP1A1 in Colon
            Cancer
  JOURNAL   Ann Surg Oncol 30 (11), 6898-6910 (2023)
   PUBMED   37407874
  REMARK    GeneRIF: Functional Analysis and Clinical Importance of ATP1A1 in
            Colon Cancer.
REFERENCE   3  (bases 1 to 3670)
  AUTHORS   Li Y, Lu X, Yu Z, Wang H and Gao B.
  TITLE     Meta-data analysis of kidney stone disease highlights ATP1A1
            involvement in renal crystal formation
  JOURNAL   Redox Biol 61, 102648 (2023)
   PUBMED   36871182
  REMARK    GeneRIF: Meta-data analysis of kidney stone disease highlights
            ATP1A1 involvement in renal crystal formation.
REFERENCE   4  (bases 1 to 3670)
  AUTHORS   Yang K, Li Z, Chen Y, Yin F, Ji X, Zhou J, Li X, Zeng T, Fei C, Ren
            C, Wang Y, Fang L, Chen L, Zhang P, Mu L, Qian Y, Chen Y and Yin W.
  TITLE     Na, K-ATPase alpha1 cooperates with its endogenous ligand to
            reprogram immune microenvironment of lung carcinoma and promotes
            immune escape
  JOURNAL   Sci Adv 9 (6), eade5393 (2023)
   PUBMED   36763655
  REMARK    GeneRIF: Na, K-ATPase alpha1 cooperates with its endogenous ligand
            to reprogram immune microenvironment of lung carcinoma and promotes
            immune escape.
REFERENCE   5  (bases 1 to 3670)
  AUTHORS   Chen YI, Chang CC, Hsu MF, Jeng YM, Tien YW, Chang MC, Chang YT, Hu
            CM and Lee WH.
  TITLE     Homophilic ATP1A1 binding induces activin A secretion to promote EMT
            of tumor cells and myofibroblast activation
  JOURNAL   Nat Commun 13 (1), 2945 (2022)
   PUBMED   35618735
  REMARK    GeneRIF: Homophilic ATP1A1 binding induces activin A secretion to
            promote EMT of tumor cells and myofibroblast activation. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 3670)
  AUTHORS   Shull MM, Pugh DG and Lingrel JB.
  TITLE     The human Na, K-ATPase alpha 1 gene: characterization of the
            5'-flanking region and identification of a restriction fragment
            length polymorphism
  JOURNAL   Genomics 6 (3), 451-460 (1990)
   PUBMED   1970326
REFERENCE   7  (bases 1 to 3670)
  AUTHORS   Lingrel JB, Orlowski J, Shull MM and Price EM.
  TITLE     Molecular genetics of Na,K-ATPase
  JOURNAL   Prog Nucleic Acid Res Mol Biol 38, 37-89 (1990)
   PUBMED   2158121
  REMARK    Review article
REFERENCE   8  (bases 1 to 3670)
  AUTHORS   Yang-Feng TL, Schneider JW, Lindgren V, Shull MM, Benz EJ Jr,
            Lingrel JB and Francke U.
  TITLE     Chromosomal localization of human Na+, K+-ATPase alpha- and
            beta-subunit genes
  JOURNAL   Genomics 2 (2), 128-138 (1988)
   PUBMED   2842249
REFERENCE   9  (bases 1 to 3670)
  AUTHORS   Sverdlov,E.D., Broude,N.E., Sverdlov,V.E., Monastyrskaya,G.S.,
            Grishin,A.V., Petrukhin,K.E., Akopyanz,N.S., Modyanov,N.N. and
            Ovchinnikov,Yu.A.
  TITLE     Family of Na+,K+-ATPase genes. Intra-individual tissue-specific
            restriction fragment length polymorphism
  JOURNAL   FEBS Lett 221 (1), 129-133 (1987)
   PUBMED   2887455
  REMARK    Erratum:[FEBS Lett 1988 Jan 18;227(1):85]
REFERENCE   10  (bases 1 to 3670)
  AUTHORS   Kawakami,K., Ohta,T., Nojima,H. and Nagano,K.
  TITLE     Primary structure of the alpha-subunit of human Na,K-ATPase deduced
            from cDNA sequence
  JOURNAL   J Biochem 100 (2), 389-397 (1986)
   PUBMED   2430951
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC050359.1, SRR11853565.1514.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000295598.10/ ENSP00000295598.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC335233.1 and BC050359.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000701.7.
            Summary: The protein encoded by this gene belongs to the family of
            P-type cation transport ATPases, and to the subfamily of Na+/K+
            -ATPases. Na+/K+ -ATPase is an integral membrane protein
            responsible for establishing and maintaining the electrochemical
            gradients of Na and K ions across the plasma membrane. These
            gradients are essential for osmoregulation, for sodium-coupled
            transport of a variety of organic and inorganic molecules, and for
            electrical excitability of nerve and muscle. This enzyme is
            composed of two subunits, a large catalytic subunit (alpha) and a
            smaller glycoprotein subunit (beta). The catalytic subunit of
            Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an
            alpha 1 subunit. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, May
            2009].
            Transcript Variant: This variant (1) represents use of an alternate
            promoter and 5' exon, compared to variant 3. The resulting isoform
            (a) is the same length but has a distinct N-terminus, compared to
            isoform c.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3670
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.1"
     gene            1..3670
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="ATPase Na+/K+ transporting subunit alpha 1"
                     /db_xref="GeneID:476"
                     /db_xref="HGNC:HGNC:799"
                     /db_xref="MIM:182310"
     misc_feature    221..223
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="upstream in-frame stop codon"
     CDS             269..3340
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /EC_number="7.2.2.13"
                     /note="isoform a is encoded by transcript variant 1; Na,
                     K-ATPase, alpha-A catalytic polypeptide; Na+/K+ ATPase 1;
                     sodium-potassium-ATPase, alpha 1 polypeptide;
                     sodium/potassium-transporting ATPase subunit alpha-1;
                     Na,K-ATPase alpha-1 subunit; Na,K-ATPase catalytic subunit
                     alpha-A protein; sodium pump subunit alpha-1; Na(+)/K(+)
                     ATPase alpha-1 subunit; sodium-potassium ATPase catalytic
                     subunit alpha-1; ATPase, Na+/K+ transporting, alpha 1
                     polypeptide"
                     /codon_start=1
                     /product="sodium/potassium-transporting ATPase subunit
                     alpha-1 isoform a"
                     /protein_id="NP_000692.2"
                     /db_xref="CCDS:CCDS887.1"
                     /db_xref="GeneID:476"
                     /db_xref="HGNC:HGNC:799"
                     /db_xref="MIM:182310"
                     /translation="MGKGVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHK
                     LSLDELHRKYGTDLSRGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSMLL
                     WIGAILCFLAYSIQAATEEEPQNDNLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKN
                     MVPQQALVIRNGEKMSINAEEVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGES
                     EPQTRSPDFTNENPLETRNIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQ
                     TPIAAEIEHFIHIITGVAVFLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATV
                     TVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHE
                     ADTTENQSGVSFDKTSATWLALSRIAGLCNRAVFQANQENLPILKRAVAGDASESALLK
                     CIELCCGSVKEMRERYAKIVEIPFNSTNKYQLSIHKNPNTSEPQHLLVMKGAPERILDR
                     CSSILLHGKEQPLDEELKDAFQNAYLELGGLGERVLGFCHLFLPDEQFPEGFQFDTDDV
                     NFPIDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIIS
                     EGNETVEDIAARLNIPVSQVNPRDAKACVVHGSDLKDMTSEQLDDILKYHTEIVFARTS
                     PQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDD
                     NFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLIFIIANIPLPLGTVTILCIDL
                     GTDMVPAISLAYEQAESDIMKRQPRNPKTDKLVNERLISMAYGQIGMIQALGGFFTYFV
                     ILAENGFLPIHLLGLRVDWDDRWINDVEDSYGQQWTYEQRKIVEFTCHTAFFVSIVVVQ
                     WADLVICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMGVALRMYPLKPTWWF
                     CAFPYSLLIFVYDEVRKLIIRRRPGGWVEKETYY"
     misc_feature    269..385
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05023.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    293..295
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8VDN2; propagated from
                     UniProtKB/Swiss-Prot (P05023.1); acetylation site"
     misc_feature    296..298
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P06685; propagated from
                     UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
     misc_feature    314..316
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
     misc_feature    329..331
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8VDN2; propagated from
                     UniProtKB/Swiss-Prot (P05023.1); acetylation site"
     misc_feature    386..388
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P06685; propagated from
                     UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
     misc_feature    407..409
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P06685; propagated from
                     UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
     misc_feature    512..520
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05023.1);
                     Region: Phosphoinositide-3 kinase binding.
                     /evidence=ECO:0000250"
     misc_feature    530..592
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05023.1);
                     transmembrane region"
     misc_feature    662..724
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05023.1);
                     transmembrane region"
     misc_feature    914..973
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05023.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    950..952
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VDN2; propagated from
                     UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
     misc_feature    1046..1048
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q8VDN2; propagated from
                     UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
     misc_feature    1133..1192
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05023.1);
                     transmembrane region"
     misc_feature    1229..1282
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05023.1);
                     transmembrane region"
     misc_feature    1622..1624
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P06685; propagated from
                     UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
     misc_feature    1718..1720
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P06685; propagated from
                     UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
     misc_feature    1892..1894
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
     misc_feature    2270..2272
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VDN2; propagated from
                     UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
     misc_feature    2291..2293
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VDN2; propagated from
                     UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
     misc_feature    2585..2644
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05023.1);
                     transmembrane region"
     misc_feature    2675..2737
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05023.1);
                     transmembrane region"
     misc_feature    2798..2866
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05023.1);
                     transmembrane region"
     misc_feature    3023..3082
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05023.1);
                     transmembrane region"
     misc_feature    3095..3097
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000250|UniProtKB:P06685; propagated from
                     UniProtKB/Swiss-Prot (P05023.1); phosphorylation site"
     misc_feature    3122..3178
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05023.1);
                     transmembrane region"
     misc_feature    3224..3286
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05023.1);
                     transmembrane region"
     regulatory      3646..3651
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="hexamer: AATAAA"
     polyA_site      3670
                     /gene="ATP1A1"
                     /gene_synonym="CMT2DD; HOMGSMR2"
                     /note="major polyA site"
ORIGIN
        1 ggagctgcgg cggggtctgg ggcgcagagc agcggcggga ggaggcggac acgtggcaac
       61 agcggtagca gcccgggcgg cggcagcaac agcggcggcg gcatcggccc gagccgccgg
      121 ccgccctccc accctcccgc cccgcggcag ccctagctcc ctccacttgg ctcccctggt
      181 cccgctcgct cggccgggag ctgctctgtg cttttctctc tgattctcca gcgacaggac
      241 ccggcgccgg gcactgagca ccgccaccat ggggaagggg gttggacgtg ataagtatga
      301 gcctgcagct gtttcagaac aaggtgataa aaagggcaaa aagggcaaaa aagacaggga
      361 catggatgaa ctgaagaaag aagtttctat ggatgatcat aaacttagcc ttgatgaact
      421 tcatcgtaaa tatggaacag acttgagccg gggattaaca tctgctcgtg cagctgagat
      481 cctggcgcga gatggtccca acgccctcac tccccctccc actactcctg aatggatcaa
      541 gttttgtcgg cagctctttg gggggttctc aatgttactg tggattggag cgattctttg
      601 tttcttggct tatagcatcc aagctgctac agaagaggaa cctcaaaacg ataatctgta
      661 cctgggtgtg gtgctatcag ccgttgtaat cataactggt tgcttctcct actatcaaga
      721 agctaaaagt tcaaagatca tggaatcctt caaaaacatg gtccctcagc aagcccttgt
      781 gattcgaaat ggtgagaaaa tgagcataaa tgcggaggaa gttgtggttg gggatctggt
      841 ggaagtaaaa ggaggagacc gaattcctgc tgacctcaga atcatatctg caaatggctg
      901 caaggtggat aactcctcgc tcactggtga atcagaaccc cagactaggt ctccagattt
      961 cacaaatgaa aaccccctgg agacgaggaa cattgccttc ttttcaacca attgtgttga
     1021 aggcaccgca cgtggtattg ttgtctacac tggggatcgc actgtgatgg gaagaattgc
     1081 cacacttgct tctgggctgg aaggaggcca gacccccatt gctgcagaaa ttgaacattt
     1141 tatccacatc atcacgggtg tggctgtgtt cctgggtgtg tctttcttca tcctttctct
     1201 catccttgag tacacctggc ttgaggctgt catcttcctc atcggtatca tcgtagccaa
     1261 tgtgccggaa ggtttgctgg ccactgtcac ggtctgtctg acacttactg ccaaacgcat
     1321 ggcaaggaaa aactgcttag tgaagaactt agaagctgtg gagaccttgg ggtccacgtc
     1381 caccatctgc tctgataaaa ctggaactct gactcagaac cggatgacag tggcccacat
     1441 gtggtttgac aatcaaatcc atgaagctga tacgacagag aatcagagtg gtgtctcttt
     1501 tgacaagact tcagctacct ggcttgctct gtccagaatt gcaggtcttt gtaacagggc
     1561 agtgtttcag gctaaccagg aaaacctacc tattcttaag cgggcagttg caggagatgc
     1621 ctctgagtca gcactcttaa agtgcataga gctgtgctgt ggttccgtga aggagatgag
     1681 agaaagatac gccaaaatcg tcgagatacc cttcaactcc accaacaagt accagttgtc
     1741 tattcataag aaccccaaca catcggagcc ccaacacctg ttggtgatga agggcgcccc
     1801 agaaaggatc ctagaccgtt gcagctctat cctcctccac ggcaaggagc agcccctgga
     1861 tgaggagctg aaagacgcct ttcagaacgc ctatttggag ctggggggcc tcggagaacg
     1921 agtcctaggt ttctgccacc tctttctgcc agatgaacag tttcctgaag ggttccagtt
     1981 tgacactgac gatgtgaatt tccctatcga taatctgtgc tttgttgggc tcatctccat
     2041 gattgaccct ccacgggcgg ccgttcctga tgccgtgggc aaatgtcgaa gtgctggaat
     2101 taaggtcatc atggtcacag gagaccatcc aatcacagct aaagctattg ccaaaggtgt
     2161 gggcatcatc tcagaaggca atgagaccgt ggaagacatt gctgcccgcc tcaacatccc
     2221 agtcagccag gtgaacccca gggatgccaa ggcctgcgta gtacacggca gtgatctaaa
     2281 ggacatgacc tccgagcagc tggatgacat tttgaagtac cacactgaga tagtgtttgc
     2341 caggacctcc cctcagcaga agctcatcat tgtggaaggc tgccaaagac agggtgctat
     2401 cgtggctgtg actggtgacg gtgtgaatga ctctccagct ttgaagaaag cagacattgg
     2461 ggttgctatg gggattgctg gctcagatgt gtccaagcaa gctgctgaca tgattcttct
     2521 ggatgacaac tttgcctcaa ttgtgactgg agtagaggaa ggtcgtctga tctttgataa
     2581 cttgaagaaa tccattgctt ataccttaac cagtaacatt cccgagatca ccccgttcct
     2641 gatatttatt attgcaaaca ttccactacc actggggact gtcaccatcc tctgcattga
     2701 cttgggcact gacatggttc ctgccatctc cctggcttat gagcaggctg agagtgacat
     2761 catgaagaga cagcccagaa atcccaaaac agacaaactt gtgaatgagc ggctgatcag
     2821 catggcctat gggcagattg gaatgatcca ggccctggga ggcttcttta cttactttgt
     2881 gattctggct gagaacggct tcctcccaat tcacctgttg ggcctccgag tggactggga
     2941 tgaccgctgg atcaacgatg tggaagacag ctacgggcag cagtggacct atgagcagag
     3001 gaaaatcgtg gagttcacct gccacacagc cttcttcgtc agtatcgtgg tggtgcagtg
     3061 ggccgacttg gtcatctgta agaccaggag gaattcggtc ttccagcagg ggatgaagaa
     3121 caagatcttg atatttggcc tctttgaaga gacagccctg gctgctttcc tttcctactg
     3181 ccctggaatg ggtgttgctc ttaggatgta tcccctcaaa cctacctggt ggttctgtgc
     3241 cttcccctac tctcttctca tcttcgtata tgacgaagtc agaaaactca tcatcaggcg
     3301 acgccctggc ggctgggtgg agaaggaaac ctactattag ccccccgtcc tgcacgccgt
     3361 ggagcatcag gccacacact ctgcatccga cacccacccc ctctttgtgt acttcagtct
     3421 tggagtttgg aactctaccc tggtaggaaa gcaccgcagc atgtggggaa gcaagacgtc
     3481 ctggaatgaa gcatgtagct ctatgggggg aggggggagg gctgcctgaa aaccatccat
     3541 ctgtggaaat gacagcgggg aaggttttta tgtgcctttt tgtttttgta aaaaaggaac
     3601 acccggaaag actgaaagaa tacattttat atctggattt ttacaaataa agatggctat
     3661 tataatggaa
//
LOCUS       NM_000702               5435 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens ATPase Na+/K+ transporting subunit alpha 2 (ATP1A2),
            mRNA.
ACCESSION   NM_000702
VERSION     NM_000702.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5435)
  AUTHORS   Dai L, Ding C, Tian X, Liu M, Ma Y, Chen C, Ren X and Li H.
  TITLE     The clinical spectrum associated with ATP1A2 variants in Chinese
            pediatric patients
  JOURNAL   Brain Dev 45 (8), 422-431 (2023)
   PUBMED   37142513
  REMARK    GeneRIF: The clinical spectrum associated with ATP1A2 variants in
            Chinese pediatric patients.
REFERENCE   2  (bases 1 to 5435)
  AUTHORS   Oda I, Danno D, Saigoh K, Wolf J, Kawashita N, Hirano M, Samukawa M,
            Kitamura S, Kikui S, Takeshima T, Mitsui Y, Kusunoki S and Nagai Y.
  TITLE     Hemiplegic migraine type 2 with new mutation of the ATP1A2 gene in
            Japanese cases
  JOURNAL   Neurosci Res 180, 83-89 (2022)
   PUBMED   35257835
  REMARK    GeneRIF: Hemiplegic migraine type 2 with new mutation of the ATP1A2
            gene in Japanese cases.
REFERENCE   3  (bases 1 to 5435)
  AUTHORS   Kubota T, Nabatame S, Sato R, Hama M, Nishiike U, Mochizuki H,
            Takahashi MP and Takeshima T.
  TITLE     Hemiplegic migraine type 2 caused by a novel variant within the
            P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant
  JOURNAL   Brain Dev 43 (9), 952-957 (2021)
   PUBMED   34092402
  REMARK    GeneRIF: Hemiplegic migraine type 2 caused by a novel variant within
            the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A
            variant.
REFERENCE   4  (bases 1 to 5435)
  AUTHORS   Li Y, Tang W, Kang L, Kong S, Dong Z, Zhao D, Liu R and Yu S.
  TITLE     Functional correlation of ATP1A2 mutations with phenotypic spectrum:
            from pure hemiplegic migraine to its variant forms
  JOURNAL   J Headache Pain 22 (1), 92 (2021)
   PUBMED   34384358
  REMARK    GeneRIF: Functional correlation of ATP1A2 mutations with phenotypic
            spectrum: from pure hemiplegic migraine to its variant forms.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5435)
  AUTHORS   Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Moller
            RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D,
            Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ,
            Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni
            S, Scheffer IE, Dobyns WB, Vilsen B and Guerrini R.
  CONSRTM   ATP1A2/A3-collaborators
  TITLE     ATP1A2- and ATP1A3-associated early profound epileptic
            encephalopathy and polymicrogyria
  JOURNAL   Brain 144 (5), 1435-1450 (2021)
   PUBMED   33880529
  REMARK    GeneRIF: ATP1A2- and ATP1A3-associated early profound epileptic
            encephalopathy and polymicrogyria.
REFERENCE   6  (bases 1 to 5435)
  AUTHORS   Jen,J.C.
  TITLE     Familial Hemiplegic Migraine
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301562
REFERENCE   7  (bases 1 to 5435)
  AUTHORS   Lingrel JB, Orlowski J, Shull MM and Price EM.
  TITLE     Molecular genetics of Na,K-ATPase
  JOURNAL   Prog Nucleic Acid Res Mol Biol 38, 37-89 (1990)
   PUBMED   2158121
  REMARK    Review article
REFERENCE   8  (bases 1 to 5435)
  AUTHORS   Shull MM, Pugh DG and Lingrel JB.
  TITLE     Characterization of the human Na,K-ATPase alpha 2 gene and
            identification of intragenic restriction fragment length
            polymorphisms
  JOURNAL   J Biol Chem 264 (29), 17532-17543 (1989)
   PUBMED   2477373
REFERENCE   9  (bases 1 to 5435)
  AUTHORS   Sverdlov ED, Bessarab DA, Malyshev IV, Petrukhin KE, Smirnov YuV,
            Ushkaryov YuA, Monastyrskaya GS, Broude NE and Modyanov NN.
  TITLE     Family of human Na+,K+-ATPase genes. Structure of the putative
            regulatory region of the alpha+-gene
  JOURNAL   FEBS Lett 244 (2), 481-483 (1989)
   PUBMED   2537767
REFERENCE   10  (bases 1 to 5435)
  AUTHORS   Yang-Feng TL, Schneider JW, Lindgren V, Shull MM, Benz EJ Jr,
            Lingrel JB and Francke U.
  TITLE     Chromosomal localization of human Na+, K+-ATPase alpha- and
            beta-subunit genes
  JOURNAL   Genomics 2 (2), 128-138 (1988)
   PUBMED   2842249
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC047533.1, AK314296.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000361216.8/ ENSP00000354490.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA221602.1, BC052271.1,
            EB386326.1 and BC013680.1.
            On May 17, 2019 this sequence version replaced NM_000702.3.
            Summary: The protein encoded by this gene belongs to the family of
            P-type cation transport ATPases, and to the subfamily of Na+/K+
            -ATPases. Na+/K+ -ATPase is an integral membrane protein
            responsible for establishing and maintaining the electrochemical
            gradients of Na and K ions across the plasma membrane. These
            gradients are essential for osmoregulation, for sodium-coupled
            transport of a variety of organic and inorganic molecules, and for
            electrical excitability of nerve and muscle. This enzyme is
            composed of two subunits, a large catalytic subunit (alpha) and a
            smaller glycoprotein subunit (beta). The catalytic subunit of
            Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an
            alpha 2 subunit. Mutations in this gene result in familial basilar
            or hemiplegic migraines, and in a rare syndrome known as
            alternating hemiplegia of childhood. [provided by RefSeq, Oct
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5435
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.2"
     gene            1..5435
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="ATPase Na+/K+ transporting subunit alpha 2"
                     /db_xref="GeneID:477"
                     /db_xref="HGNC:HGNC:800"
                     /db_xref="MIM:182340"
     CDS             104..3166
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /EC_number="7.2.2.13"
                     /note="sodium/potassium-transporting ATPase alpha-2 chain;
                     Na+/K+ ATPase, alpha-A(+) catalytic polypeptide; Na+/K+
                     ATPase, alpha-B polypeptide; sodium pump subunit alpha-2;
                     sodium/potassium-transporting ATPase subunit alpha-2;
                     Na(+)/K(+) ATPase alpha-2 subunit; sodium-potassium ATPase
                     catalytic subunit alpha-2; ATPase Na+/K+ transporting alpha
                     2 polypeptide"
                     /codon_start=1
                     /product="sodium/potassium-transporting ATPase subunit
                     alpha-2 precursor"
                     /protein_id="NP_000693.1"
                     /db_xref="CCDS:CCDS1196.1"
                     /db_xref="GeneID:477"
                     /db_xref="HGNC:HGNC:800"
                     /db_xref="MIM:182340"
                     /translation="MGRGAGREYSPAATTAENGGGKKKQKEKELDELKKEVAMDDHKLS
                     LDELGRKYQVDLSKGLTNQRAQDVLARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWI
                     GAILCFLAYGIQAAMEDEPSNDNLYLGVVLAAVVIVTGCFSYYQEAKSSKIMDSFKNMV
                     PQQALVIREGEKMQINAEEVVVGDLVEVKGGDRVPADLRIISSHGCKVDNSSLTGESEP
                     QTRSPEFTHENPLETRNICFFSTNCVEGTARGIVIATGDRTVMGRIATLASGLEVGRTP
                     IAMEIEHFIQLITGVAVFLGVSFFVLSLILGYSWLEAVIFLIGIIVANVPEGLLATVTV
                     CLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEAD
                     TTEDQSGATFDKRSPTWTALSRIAGLCNRAVFKAGQENISVSKRDTAGDASESALLKCI
                     ELSCGSVRKMRDRNPKVAEIPFNSTNKYQLSIHEREDSPQSHVLVMKGAPERILDRCST
                     ILVQGKEIPLDKEMQDAFQNAYMELGGLGERVLGFCQLNLPSGKFPRGFKFDTDELNFP
                     TEKLCFVGLMSMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGN
                     ETVEDIAARLNIPMSQVNPREAKACVVHGSDLKDMTSEQLDEILKNHTEIVFARTSPQQ
                     KLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGIAMGISGSDVSKQAADMILLDDNFA
                     SIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLLFIIANIPLPLGTVTILCIDLGTD
                     MVPAISLAYEAAESDIMKRQPRNSQTDKLVNERLISMAYGQIGMIQALGGFFTYFVILA
                     ENGFLPSRLLGIRLDWDDRTMNDLEDSYGQEWTYEQRKVVEFTCHTAFFASIVVVQWAD
                     LIICKTRRNSVFQQGMKNKILIFGLLEETALAAFLSYCPGMGVALRMYPLKVTWWFCAF
                     PYSLLIFIYDEVRKLILRRYPGGWVEKETYY"
     misc_feature    104..196
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P50993.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     119..3163
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /product="Sodium/potassium-transporting ATPase subunit
                     alpha-2. /id=PRO_0000002504"
                     /note="propagated from UniProtKB/Swiss-Prot (P50993.1)"
     misc_feature    131..133
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6PIE5; propagated from
                     UniProtKB/Swiss-Prot (P50993.1); phosphorylation site"
     misc_feature    341..349
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P50993.1);
                     Region: Interaction with phosphoinositide-3 kinase.
                     /evidence=ECO:0000250"
     misc_feature    359..421
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P50993.1);
                     transmembrane region"
     misc_feature    491..553
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P50993.1);
                     transmembrane region"
     misc_feature    737..796
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P50993.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    962..1021
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P50993.1);
                     transmembrane region"
     misc_feature    1058..1111
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P50993.1);
                     transmembrane region"
     misc_feature    1418..1420
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P06686; propagated from
                     UniProtKB/Swiss-Prot (P50993.1); phosphorylation site"
     misc_feature    1451..1453
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6PIE5; propagated from
                     UniProtKB/Swiss-Prot (P50993.1); phosphorylation site"
     misc_feature    1589..1591
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P06686; propagated from
                     UniProtKB/Swiss-Prot (P50993.1); phosphorylation site"
     misc_feature    1778..1780
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6PIE5; propagated from
                     UniProtKB/Swiss-Prot (P50993.1); phosphorylation site"
     misc_feature    1811..1813
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P50993.1); phosphorylation site"
     misc_feature    1862..1864
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P50993.1); phosphorylation site"
     misc_feature    2117..2119
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6PIE5; propagated from
                     UniProtKB/Swiss-Prot (P50993.1); phosphorylation site"
     misc_feature    2411..2470
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P50993.1);
                     transmembrane region"
     misc_feature    2501..2563
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P50993.1);
                     transmembrane region"
     misc_feature    2579..2581
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P09626; propagated from
                     UniProtKB/Swiss-Prot (P50993.1); phosphorylation site"
     misc_feature    2624..2692
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P50993.1);
                     transmembrane region"
     misc_feature    2849..2908
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P50993.1);
                     transmembrane region"
     misc_feature    2921..2923
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="Phosphoserine, by PKA. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P50993.1);
                     phosphorylation site"
     misc_feature    2948..3004
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P50993.1);
                     transmembrane region"
     misc_feature    3050..3112
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P50993.1);
                     transmembrane region"
     regulatory      5166..5171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="hexamer: AATAAA"
     polyA_site      5191
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="major polyA site"
     polyA_site      5403
                     /gene="ATP1A2"
                     /gene_synonym="DEE98; FARIMPD; FHM2; MHP2"
                     /note="major polyA site"
ORIGIN
        1 ctctgtctgc cagggtctcc gactgtccca gacgggctgg tgtgggcttg ggatcctcct
       61 ggtgacctct cccgctaagg tccctcagcc actctgcccc aagatgggcc gtggggctgg
      121 ccgtgagtac tcacctgccg ccaccacggc agagaatggg ggcggcaaga agaaacagaa
      181 ggagaaggaa ctggatgagc tgaagaagga ggtggcaatg gatgaccaca agctgtcctt
      241 ggatgagctg ggccgcaaat accaagtgga cctgtccaag ggcctcacca accagcgggc
      301 tcaggacgtt ctggctcgag atgggcccaa cgccctcaca ccacctccca caacccctga
      361 gtgggtcaag ttctgccgtc agcttttcgg ggggttctcc atcctgctgt ggattggggc
      421 tatcctctgc ttcctggcct acggcatcca ggctgccatg gaggatgaac catccaacga
      481 caatctatat ctgggtgtgg tgctggcagc tgtggtcatt gtcactggct gcttctccta
      541 ctaccaggag gccaagagct ccaagatcat ggattccttc aagaacatgg tacctcagca
      601 agcccttgtg atccgggagg gagagaagat gcagatcaac gcagaggaag tggtggtggg
      661 agacctggtg gaggtgaagg gtggagaccg cgtccctgct gacctccgga tcatctcttc
      721 tcatggctgt aaggtggata actcatcctt aacaggagag tcggagcccc agacccgctc
      781 ccccgagttc acccatgaga accccctgga gacccgcaat atctgtttct tctccaccaa
      841 ctgtgttgaa ggcactgcca ggggcattgt gattgccaca ggagaccgga cggtgatggg
      901 ccgcatagct actctcgcct caggcctgga ggttgggcgg acacccatag caatggagat
      961 tgaacacttc atccagctga tcacaggggt cgctgtattc ctgggggtct ccttcttcgt
     1021 gctctccctc atcctgggct acagctggct ggaggcagtc atcttcctca tcggcatcat
     1081 agtggccaac gtgcctgagg ggcttctggc cactgtcact gtgtgcctga ccctgacagc
     1141 caagcgcatg gcacggaaga actgcctggt gaagaacctg gaggcggtgg agacgctggg
     1201 ctccacgtcc accatctgct cggacaagac gggcaccctc acccagaacc gcatgaccgt
     1261 cgcccacatg tggttcgaca accaaatcca tgaggctgac accaccgaag atcagtctgg
     1321 ggccactttt gacaaacgat cccctacgtg gacggccctg tctcgaattg ctggtctctg
     1381 caaccgcgcc gtcttcaagg caggacagga gaacatctcc gtgtctaagc gggacacagc
     1441 tggtgatgcc tctgagtcag ctctgctcaa gtgcattgag ctctcctgtg gctcagtgag
     1501 gaaaatgaga gacagaaacc ccaaggtggc agagattcct ttcaactcta ccaacaagta
     1561 ccagctgtct atccacgagc gagaagacag cccccagagc cacgtgctgg tgatgaaggg
     1621 ggccccagag cgcattctgg accggtgctc caccatcctg gtgcagggca aggagatccc
     1681 gctcgacaag gagatgcaag atgcctttca aaatgcctac atggagctgg ggggacttgg
     1741 ggagcgtgtg ctgggattct gtcaactgaa tctgccatct ggaaagtttc ctcggggctt
     1801 caaattcgac acggatgagc tgaactttcc cacggagaag ctttgctttg tggggctcat
     1861 gtctatgatt gaccctcccc gggctgctgt gccagatgct gtgggcaagt gccgaagcgc
     1921 aggcatcaag gtgatcatgg taaccgggga tcaccctatc acagccaagg ccattgccaa
     1981 aggcgtgggc atcatatcag agggtaacga gactgtggag gacattgcag cccggctcaa
     2041 cattcccatg agtcaagtca accccagaga agccaaggca tgcgtggtgc acggctctga
     2101 cctgaaggac atgacatcgg agcagctcga tgagatcctc aagaaccaca cagagatcgt
     2161 ctttgctcga acgtctcccc agcagaagct catcattgtg gagggatgtc agaggcaggg
     2221 agccattgtg gccgtgacgg gtgacggggt gaacgactcc cctgcattga agaaggctga
     2281 cattggcatt gccatgggca tctctggctc tgacgtctct aagcaggcag ccgacatgat
     2341 cctgctggat gacaactttg cctccatcgt cacgggggtg gaggagggcc gcctgatctt
     2401 tgacaacttg aagaaatcca tcgcctacac cctgaccagc aacatccccg agatcacccc
     2461 cttcctgctg ttcatcattg ccaacatccc cctacctctg ggcactgtga ccatcctttg
     2521 cattgacctg ggcacagata tggtccctgc catctccttg gcctatgagg cagctgagag
     2581 tgatatcatg aagcggcagc cacgaaactc ccagacggac aagctggtga atgagaggct
     2641 catcagcatg gcctacggac agatcgggat gatccaggca ctgggtggct tcttcaccta
     2701 ctttgtgatc ctggcagaga acggtttcct gccatcacgg ctactgggaa tccgcctcga
     2761 ctgggatgac cggaccatga atgatctgga ggacagctat ggacaggagt ggacctatga
     2821 gcagcggaag gtggtggagt tcacgtgcca cacggcattc tttgccagca tcgtggtggt
     2881 gcagtgggct gacctcatca tctgcaagac ccgccgcaac tcagtcttcc agcagggcat
     2941 gaagaacaag atcctgattt ttgggctcct ggaggagacg gcgttggctg cctttctctc
     3001 ttactgccca ggcatgggtg tagccctccg catgtacccg ctcaaagtca cctggtggtt
     3061 ctgcgccttc ccctacagcc tcctcatctt catctatgat gaggtccgaa agctcatcct
     3121 gcggcggtat cctggtggct gggtggagaa ggagacatac tactgacccc attggaagaa
     3181 gaaccaggca tggaaagatg gggagctctg gaggtgttgt ggggatggtg atggagaggg
     3241 atggaaataa cgggtggcat tgggtggcaa catttgggga gagataatga ggcaactcag
     3301 caggctaagt tgcggggtat ataaattggg gtgatgaccc catagaccta actgtgaaca
     3361 atcagattag acactatgtg ttagagtccc cccgaccaga tccttttcca tcccactcca
     3421 ctatgttgtc tattttttct gaggaattaa gggttacccc accctgccca ctcccatccc
     3481 ttcaacccca cttcctactg taatagatca gcatccaaaa gcaggaaccc atctaaacca
     3541 gaaggaagcc ctctcagatc accccagcct cactccattt cccacttcca cccccgttag
     3601 cttcctgcag gactctatcc ctggcttccc cttcagacct tgcaatcaca aaaggttctt
     3661 ctggtgagtg caagagcctg agactggaaa aggtggactt gtctcccagt cgaggctggt
     3721 aagggacctt cagggagagc tgggcagaca ggtgggagat ggaggtaggg ctggctggag
     3781 gaaggaaaca acaaaggaag tgaggtagtg ccaatgacag gacatttgac atgagtctcc
     3841 agatagatgt cgtggactcc agctctacgt cccacatttt agaatacccc accagcagaa
     3901 caaactcaga tctcatcagg gtagcagcag aggcaggacc agaaggcaat caagagcttc
     3961 cagaaatgcc acacttgtgt gccacagagt tccccgctga cccttggtta ggggtcctct
     4021 tagtccacaa ggtccggatg tcactcatgt acttaataac acttcacctt ctgtaatact
     4081 aagtcctcag agctccatgc tgttctgaaa gggatggcca caagttcttt cccagcctct
     4141 tccattccct ttcttttcat gcccatcccg atgaacctgc atcattcccc gacactgcca
     4201 agccaaccct ggaaaaggag ttcgctggcc attggctaga atcagggtgg agaagttccc
     4261 tgaaccttcc tgtctcccag ggacatgtat gcttccaggg acaagcttag gtcatgaaca
     4321 tggtcagaac ctttggacaa gaggaaaaat actaagagat ttgctttttc tgggtgcggt
     4381 ggctcatgcc tgtaatccca gcactttggg aggccgaggc aggtggatca tgaggtcagg
     4441 agttcgaggc gagcctggcc aacatggtga aaccctgtct ctactaaaag tacaaaaaat
     4501 tagccagtca tggtggcaca cgcctgtaat ctcagctact caggaggctg aggcaggaga
     4561 attgcttgaa cctgtgagga agaggttgca gtgagctgag atcgtgccat tacactccag
     4621 cctgggcgaa agggtgagac tccatctcaa aaaaaaaaaa aatgatttgc ttttgacgtc
     4681 ttaggtggca gggctgttcc ctccaggcaa atgcccttca aaccgacgat cattgtgccc
     4741 acttaccctg ggctggagag ttggtttcag gttcctacag gagatagctt tctttccctt
     4801 actccctatc taacactttt gctctgcagg cagccttgcc cattctctaa gcctggctta
     4861 gaaggcactg ggaatgtcct gtagagagag acctagatag gtcatgcaag tgagaaagac
     4921 atctgaggaa aatggaagac ctaaggcaga caggaaggaa gcacaaaaga caagcattgg
     4981 gtcagaccca taaaccacct cccaaaggct gtcatttcat tgcactggaa ttttgcttta
     5041 tcagaagcaa ggaagtaagg gagtcattgc cttgggcctg ggaatctaag tgggagacaa
     5101 tattaatttg gatccgatta attggagatt actaactgtg gacaaaagtt tatctttgca
     5161 caatcaataa aaatggcatt tttttagtaa attaagagca taaacaatat tgctagaggt
     5221 ggcatgttta gtctaccaaa aacaatactt ttcaggcact ttagaaatat ccttttagaa
     5281 gcagcgagtg catgggctaa ttatcatcaa tctttatgta tttgttaaag aaacatctac
     5341 aggatcttta ttggtgacct tttgtaagac attagtttga ggtactacct atgtacttga
     5401 aaataataaa gtggcatttc tttatgaaaa aaaaa
//
LOCUS       NM_000704               3721 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens ATPase H+/K+ transporting subunit alpha (ATP4A), mRNA.
ACCESSION   NM_000704
VERSION     NM_000704.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3721)
  AUTHORS   Ihara Y, Umeno J and Hori Y.
  TITLE     Type IV Gastric Carcinoids in the Stomach Caused by ATP4A Gene
            Mutations
  JOURNAL   Clin Gastroenterol Hepatol 18 (10), A22 (2020)
   PUBMED   31401365
  REMARK    GeneRIF: Type IV Gastric Carcinoids in the Stomach Caused by ATP4A
            Gene Mutations.
REFERENCE   2  (bases 1 to 3721)
  AUTHORS   Chobot A, Rusak E, Wenzlau J, Davidson H, Adamczyk P, Krzywicka A,
            Mazur B, Polanska J and Rewers M.
  TITLE     ATP4A autoimmunity in pediatric patients with type 1 diabetes and
            its relationship to blood count, iron metabolism, and vitamin B12
  JOURNAL   Pediatr Diabetes 19 (1), 80-84 (2018)
   PUBMED   28401620
  REMARK    GeneRIF: ATP4A antibodies were present in a significant proportion
            of children with type 1 diabetes (T1D). Higher ATP4A levels in T1D
            children are associated with lower, yet still fitting within the
            normal range, levels of vitamin B12, and ferritin.
REFERENCE   3  (bases 1 to 3721)
  AUTHORS   Calvete O, Herraiz M, Reyes J, Patino A and Benitez J.
  TITLE     A cumulative effect involving malfunction of the PTH1R and ATP4A
            genes explains a familial gastric neuroendocrine tumor with
            hypothyroidism and arthritis
  JOURNAL   Gastric Cancer 20 (6), 998-1003 (2017)
   PUBMED   28474257
  REMARK    GeneRIF: Heterozygous mutations in the ATP4A and PTH1R genes were
            identified in a family with type I gastric neuroendocrine tumors
            plus hypothyroidism and rheumatoid arthritis
REFERENCE   4  (bases 1 to 3721)
  AUTHORS   Calvete O, Varro A, Pritchard DM, Barroso A, Oteo M, Morcillo MA,
            Vargiu P, Dodd S, Garcia M, Reyes J, Ortega S and Benitez J.
  TITLE     A knockin mouse model for human ATP4aR703C mutation identified in
            familial gastric neuroendocrine tumors recapitulates the
            premalignant condition of the human disease and suggests new
            therapeutic strategies
  JOURNAL   Dis Model Mech 9 (9), 975-984 (2016)
   PUBMED   27491072
  REMARK    GeneRIF: the generation and characterization of a knockin mouse
            model for the ATP4a(R703C) mutation to better understand the
            tumorigenesis process.
REFERENCE   5  (bases 1 to 3721)
  AUTHORS   Fossmark R, Calvete O, Mjones P, Benitez J and Waldum HL.
  TITLE     ECL-cell carcinoids and carcinoma in patients homozygous for an
            inactivating mutation in the gastric H(+) K(+) ATPase alpha subunit
  JOURNAL   APMIS 124 (7), 561-566 (2016)
   PUBMED   27150581
  REMARK    GeneRIF: In conclusion, patients homozygous for an inactivating
            ATP4A mutation develop gastric ECL-cell carcinoids in their 3rd or
            4th decade.
REFERENCE   6  (bases 1 to 3721)
  AUTHORS   Chow DC and Forte JG.
  TITLE     Characterization of the beta-subunit of the H(+)-K(+)-ATPase using
            an inhibitory monoclonal antibody
  JOURNAL   Am J Physiol 265 (6 Pt 1), C1562-C1570 (1993)
   PUBMED   8279517
REFERENCE   7  (bases 1 to 3721)
  AUTHORS   Song I, Yamada T and Trent JM.
  TITLE     Mapping of the gene encoding the alpha-subunit of the human
            H+,K(+)-ATPase to chromosome 19q13.1 by fluorescent in situ
            hybridization
  JOURNAL   Genomics 14 (2), 547-548 (1992)
   PUBMED   1330887
REFERENCE   8  (bases 1 to 3721)
  AUTHORS   Newman PR, Greeb J, Keeton TP, Reyes AA and Shull GE.
  TITLE     Structure of the human gastric H,K-ATPase gene and comparison of the
            5'-flanking sequences of the human and rat genes
  JOURNAL   DNA Cell Biol 9 (10), 749-762 (1990)
   PUBMED   2176086
REFERENCE   9  (bases 1 to 3721)
  AUTHORS   Maeda M, Oshiman K, Tamura S and Futai M.
  TITLE     Human gastric (H+ + K+)-ATPase gene. Similarity to (Na+ + K+)-ATPase
            genes in exon/intron organization but difference in control region
  JOURNAL   J Biol Chem 265 (16), 9027-9032 (1990)
   PUBMED   2160952
REFERENCE   10  (bases 1 to 3721)
  AUTHORS   Sverdlov,E.D., Monastyrskaya,G.S., Broude,N.E., Ushkaryov,Yu.A.,
            Allikmets,R.L., Melkov,A.M., Smirnov,Yu.V., Malyshev,I.V.,
            Dulobova,I.E., Petrukhin,K.E. et al.
  TITLE     The family of human Na+,K+-ATPase genes. No less than five genes
            and/or pseudogenes related to the alpha-subunit
  JOURNAL   FEBS Lett 217 (2), 275-278 (1987)
   PUBMED   3036582
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: GQ891529.1, AK223259.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2157511
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000262623.4/ ENSP00000262623.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK058032.1, AL832971.1 and
            AC002389.1.
            On May 17, 2019 this sequence version replaced NM_000704.2.
            Summary: The protein encoded by this gene belongs to a family of
            P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a
            heterodimer consisting of a high molecular weight catalytic alpha
            subunit and a smaller but heavily glycosylated beta subunit. This
            enzyme is a proton pump that catalyzes the hydrolysis of ATP
            coupled with the exchange of H(+) and K(+) ions across the plasma
            membrane. It is also responsible for gastric acid secretion. This
            gene encodes a catalytic alpha subunit of the gastric H+,
            K+-ATPase. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3721
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..3721
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="ATPase H+/K+ transporting subunit alpha"
                     /db_xref="GeneID:495"
                     /db_xref="HGNC:HGNC:819"
                     /db_xref="MIM:137216"
     CDS             30..3137
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /EC_number="7.2.2.19"
                     /note="ATPase, H+/K+ exchanging, alpha polypeptide; gastric
                     hydrogen-potassium ATPase; proton pump; gastric H+/K+
                     ATPase alpha subunit; gastric H,K-ATPase catalytic subunit;
                     ATPase, H+/K+ transporting, alpha polypeptide; ATPase H+/K+
                     transporting alpha subunit; epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="potassium-transporting ATPase alpha chain 1"
                     /protein_id="NP_000695.2"
                     /db_xref="CCDS:CCDS12467.1"
                     /db_xref="GeneID:495"
                     /db_xref="HGNC:HGNC:819"
                     /db_xref="MIM:137216"
                     /translation="MGKAENYELYSVELGPGPGGDMAAKMSKKKKAGGGGGKRKEKLEN
                     MKKEMEINDHQLSVAELEQKYQTSATKGLSASLAAELLLRDGPNALRPPRGTPEYVKFA
                     RQLAGGLQCLMWVAAAICLIAFAIQASEGDLTTDDNLYLAIALIAVVVVTGCFGYYQEF
                     KSTNIIASFKNLVPQQATVIRDGDKFQINADQLVVGDLVEMKGGDRVPADIRILAAQGC
                     KVDNSSLTGESEPQTRSPECTHESPLETRNIAFFSTMCLEGTVQGLVVNTGDRTIIGRI
                     ASLASGVENEKTPIAIEIEHFVDIIAGLAILFGATFFIVAMCIGYTFLRAMVFFMAIVV
                     AYVPEGLLATVTVCLSLTAKRLASKNCVVKNLEAVETLGSTSVICSDKTGTLTQNRMTV
                     SHLWFDNHIHTADTTEDQSGQTFDQSSETWRALCRVLTLCNRAAFKSGQDAVPVPKRIV
                     IGDASETALLKFSELTLGNAMGYRDRFPKVCEIPFNSTNKFQLSIHTLEDPRDPRHLLV
                     MKGAPERVLERCSSILIKGQELPLDEQWREAFQTAYLSLGGLGERVLGFCQLYLNEKDY
                     PPGYAFDVEAMNFPSSGLCFAGLVSMIDPPRATVPDAVLKCRTAGIRVIMVTGDHPITA
                     KAIAASVGIISEGSETVEDIAARLRVPVDQVNRKDARACVINGMQLKDMDPSELVEALR
                     THPEMVFARTSPQQKLVIVESCQRLGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDAA
                     KNAADMILLDDNFASIVTGVEQGRLIFDNLKKSIAYTLTKNIPELTPYLIYITVSVPLP
                     LGCITILFIELCTDIFPSVSLAYEKAESDIMHLRPRNPKRDRLVNEPLAAYSYFQIGAI
                     QSFAGFTDYFTAMAQEGWFPLLCVGLRAQWEDHHLQDLQDSYGQEWTFGQRLYQQYTCY
                     TVFFISIEVCQIADVLIRKTRRLSAFQQGFFRNKILVIAIVFQVCIGCFLCYCPGMPNI
                     FNFMPIRFQWWLVPLPYGILIFVYDEIRKLGVRCCPGSWWDQELYY"
     misc_feature    30..152
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="propagated from UniProtKB/Swiss-Prot (P20648.5);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    48..50
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P19156; propagated from
                     UniProtKB/Swiss-Prot (P20648.5); phosphorylation site"
     misc_feature    57..59
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P19156; propagated from
                     UniProtKB/Swiss-Prot (P20648.5); phosphorylation site"
     misc_feature    108..110
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P19156; propagated from
                     UniProtKB/Swiss-Prot (P20648.5); phosphorylation site"
     misc_feature    324..386
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="propagated from UniProtKB/Swiss-Prot (P20648.5);
                     transmembrane region"
     misc_feature    456..518
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="propagated from UniProtKB/Swiss-Prot (P20648.5);
                     transmembrane region"
     misc_feature    927..986
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="propagated from UniProtKB/Swiss-Prot (P20648.5);
                     transmembrane region"
     misc_feature    1023..1076
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="propagated from UniProtKB/Swiss-Prot (P20648.5);
                     transmembrane region"
     misc_feature    1416..1418
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6PIE5; propagated from
                     UniProtKB/Swiss-Prot (P20648.5); phosphorylation site"
     misc_feature    1830..1832
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P50993; propagated from
                     UniProtKB/Swiss-Prot (P20648.5); phosphorylation site"
     misc_feature    2379..2438
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="propagated from UniProtKB/Swiss-Prot (P20648.5);
                     transmembrane region"
     misc_feature    2469..2531
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="propagated from UniProtKB/Swiss-Prot (P20648.5);
                     transmembrane region"
     misc_feature    2547..2549
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P09626; propagated from
                     UniProtKB/Swiss-Prot (P20648.5); phosphorylation site"
     misc_feature    2592..2660
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="propagated from UniProtKB/Swiss-Prot (P20648.5);
                     transmembrane region"
     misc_feature    2817..2876
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="propagated from UniProtKB/Swiss-Prot (P20648.5);
                     transmembrane region"
     misc_feature    2889..2891
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="Phosphoserine, by PKA. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P20648.5);
                     phosphorylation site"
     misc_feature    2919..2975
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="propagated from UniProtKB/Swiss-Prot (P20648.5);
                     transmembrane region"
     misc_feature    3021..3083
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="propagated from UniProtKB/Swiss-Prot (P20648.5);
                     transmembrane region"
     regulatory      3529..3534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="hexamer: AATAAA"
     polyA_site      3559
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="major polyA site"
     regulatory      3692..3697
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
                     /note="hexamer: AATAAA"
     polyA_site      3721
                     /gene="ATP4A"
                     /gene_synonym="ATP6A"
ORIGIN
        1 gttgggtggg agcacaggca ccgggcacca tggggaaggc cgagaactat gagctctact
       61 cggtggagct gggtcctggc cctggcgggg acatggctgc caagatgagc aagaagaaga
      121 aggcgggtgg cgggggtggc aagaggaagg agaagctgga gaacatgaag aaggagatgg
      181 agattaacga ccaccagctg tcagtggcgg agctggaaca gaaataccag accagtgcca
      241 ccaagggcct ctctgcgagc ctggctgctg agctgctgct gcgggatggg cccaacgcac
      301 tgcggccacc acggggcacc ccagagtacg tcaagttcgc gaggcagctg gccgggggcc
      361 tgcagtgcct catgtgggtt gccgccgcca tctgcctcat cgcctttgcc atccaggcta
      421 gtgaggggga cctcaccacc gacgacaatc tgtacctggc aatcgctctc attgctgtgg
      481 ttgtcgtcac cggctgcttt ggctactacc aggaattcaa gagcaccaac atcatcgcca
      541 gctttaagaa ccttgtgcca cagcaagcca ctgtcatccg cgatggagac aaattccaga
      601 tcaacgctga ccaactggtg gtgggcgacc tggtggagat gaaaggtggg gacagagtgc
      661 ccgccgacat ccgcatcctg gcggcccagg gctgcaaggt ggacaactcc tcgctgacag
      721 gggagtctga gccacagacc cgctcacccg agtgcacgca cgagagccct ctggagaccc
      781 gcaacatcgc cttcttctcc accatgtgcc ttgagggcac cgtgcagggc ctggtggtga
      841 acacgggcga ccgcaccatc attgggcgca tcgcatcgct ggcgtcgggg gtggaaaacg
      901 agaagacacc catcgctatc gagatcgagc attttgtgga catcatcgcg ggcctggcca
      961 ttctcttcgg tgccacattt tttattgtgg ccatgtgcat tggctacacc ttcctgcggg
     1021 ccatggtctt cttcatggcc atcgtggtgg cctatgtgcc tgaggggctg ctggccactg
     1081 tcacagtctg cctgtccctg acagccaagc gcctggccag taagaactgc gtggtcaaga
     1141 acctggaggc ggtggagaca ttgggctcca cttcggtgat ctgctcggac aagacaggga
     1201 ctctcactca gaaccgcatg actgtgtccc atctgtggtt tgacaaccac atccacacag
     1261 ctgacaccac ggaagaccag tcagggcaga cgtttgacca gtcctcggag acgtggcggg
     1321 cgctgtgccg ggtgctcacc ctgtgcaacc gcgccgcctt caagtccggc caggatgcag
     1381 tgcctgtgcc caagcgcatc gtgattggag acgcatcgga gacggcgctg ctcaagttct
     1441 cggagctgac gctgggcaac gccatgggct accgggaccg cttcccaaaa gtctgcgaga
     1501 tacccttcaa ctccaccaac aagttccagc tgtccatcca tacgctggag gacccgcggg
     1561 acccgcgaca cttgctggtg atgaagggcg cccccgagcg cgtgctggag cgctgcagct
     1621 ccatccttat caagggccag gagctgccgc tggacgagca gtggcgcgag gccttccaga
     1681 ccgcctacct cagcctggga ggcctgggcg aacgcgtgct cggcttctgc cagctctacc
     1741 tgaatgagaa ggactacccg cctggctatg ccttcgacgt agaggccatg aactttccat
     1801 ctagcggcct ctgctttgcg ggacttgtat ccatgattga cccaccccgg gccaccgtcc
     1861 ctgatgctgt gctcaagtgt cgcaccgcag gcatccgggt gatcatggta acgggtgacc
     1921 accccatcac cgccaaggcc attgcagcca gtgtgggcat catctcggaa ggcagcgaga
     1981 cagtggagga catcgctgcc cgcctccgtg tgcccgtaga ccaggttaat cgcaaggatg
     2041 cccgtgcctg tgtgatcaat ggcatgcagc tgaaggacat ggacccatcg gaactggtcg
     2101 aggccctgcg cacccacccc gagatggtgt ttgcgcgcac cagcccccag cagaagctgg
     2161 tgatcgtgga gagctgccag cggctgggtg cgattgtggc cgtcacgggg gatggtgtga
     2221 atgactcccc agctctgaag aaggcagaca tcggagtagc catgggcatc gctggctcag
     2281 atgctgccaa aaatgcagct gacatgatcc tgctggatga caactttgcc tccattgtga
     2341 caggcgtgga gcagggtcga ctgatcttcg acaacctgaa gaagtctatt gcctacacat
     2401 tgaccaagaa catcccagag ctgacaccct acctcatcta catcaccgtc agcgtgcccc
     2461 tgcccctcgg gtgcatcacc atcctcttca tcgaactctg cactgacatt ttcccatctg
     2521 tgtccctggc atatgaaaag gccgagagtg acatcatgca cctgcgtcca cgcaacccaa
     2581 agcgtgacag attggtcaac gagcccctgg ctgcctactc ctacttccag attggtgcca
     2641 ttcagtcctt tgctggcttc actgactact tcacggcaat ggcccaggag ggctggttcc
     2701 cactgctgtg cgtggggctg cgggcgcagt gggaggacca ccacctacaa gatctgcagg
     2761 acagctacgg ccaggagtgg acattcgggc agcgcctgta ccagcagtac acctgctaca
     2821 ccgtgttctt catcagcatt gaggtgtgcc agatcgccga tgtcctcatc cgcaagacgc
     2881 gccgtctctc tgccttccag caaggcttct tcaggaataa gatcctggtg atcgccatcg
     2941 tgttccaggt ctgcatcggc tgcttcctgt gctactgccc cggcatgccc aacatcttca
     3001 acttcatgcc cattcggttc cagtggtggc tggtccccct gccctacggc atcctcatct
     3061 tcgtctatga tgagatccgg aagcttggag ttcgctgttg cccagggagc tggtgggacc
     3121 aggaactcta ctattagagg gacgactgcc ttcaagcatc cctgcaactg ccacagcagg
     3181 tgggggcagg gctcgtggga ccctctggac agccaccaag atatctgagc aaccaagagt
     3241 cccagcccca ccagtatctg cttctgtagc ccacggcacc ccaaacttgg agggacctgc
     3301 ccactcccct cccccattcc caaggttcgc acctcctgga gcagcagcgc ctgggcagtc
     3361 ctctgggctg gcctcgggaa agccgccacc tgtggtggcg gtggggctct gacagggagt
     3421 acagctgacc gcttctggag ggtgtttctg ttcttaggac tccagtccag gctggacggc
     3481 tgcctgaggg cccttcgtta aagacacgct tgtgtcctgg gcgatggtaa taaaaccagc
     3541 tcatgctgac tgtgctgtat ctggtgccag gcactgtcct cagcgtctct cattagtgct
     3601 tgtgatctcc cacagtcctg tacatggggg ctgtttatcc agggctgcac ctccagtgcc
     3661 tagtacacag cctggcacat agtaggtcct caataaacct gccttgggga aatgattcct
     3721 a
//
LOCUS       NM_000705               1500 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens ATPase H+/K+ transporting subunit beta (ATP4B), mRNA.
ACCESSION   NM_000705
VERSION     NM_000705.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1500)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1500)
  AUTHORS   Yang T, Li MH, Liu J, Huang N, Li N, Liu SN, Liu Y, Zhang T, Zou Q
            and Li H.
  TITLE     Benzimidazole derivative, BMT-1, induces apoptosis in multiple
            myeloma cells via a mitochondrial-mediated pathway involving
            H+/K+-ATPase inhibition
  JOURNAL   Oncol Rep 31 (6), 2743-2750 (2014)
   PUBMED   24700195
  REMARK    GeneRIF: these findings demonstrated that a decrease in pHi, caused
            by H+/K+-ATPase inhibition induced by BMT-1, triggered the
            dysfunction of the mitochondria resulting in the apoptosis of MM
            cells
REFERENCE   3  (bases 1 to 1500)
  AUTHORS   Raja UM, Gopal G and Rajkumar T.
  TITLE     Intragenic DNA methylation concomitant with repression of ATP4B and
            ATP4A gene expression in gastric cancer is a potential serum
            biomarker
  JOURNAL   Asian Pac J Cancer Prev 13 (11), 5563-5568 (2012)
   PUBMED   23317218
  REMARK    GeneRIF: Downregulation of ATP4B gene is associated with gastric
            cancer.
REFERENCE   4  (bases 1 to 1500)
  AUTHORS   Bab-Dinitz E, Albeck S, Peleg Y, Brumfeld V, Gottschalk KE and
            Karlish SJ.
  TITLE     A C-terminal lobe of the beta subunit of Na,K-ATPase and H,K-ATPase
            resembles cell adhesion molecules
  JOURNAL   Biochemistry 48 (36), 8684-8691 (2009)
   PUBMED   19694409
  REMARK    GeneRIF: Use of fold recognition methods enables the prediction that
            a C-terminal domain of the beta subunits of Na,K-ATPase and
            H,K-ATPase has an immunoglobulin-like fold, which resembles cell
            adhesion molecules.
REFERENCE   5  (bases 1 to 1500)
  AUTHORS   Knouff CW, Lim N, Song K, Yuan X, Walker MC, Townsend R, Waeber G,
            Matthews PM, Vollenweider P, Waterworth DM and Mooser V.
  TITLE     Pharmacological effects of lipid-lowering drugs recapitulate with a
            larger amplitude the phenotypic effects of common variants within
            their target genes
  JOURNAL   Pharmacogenet Genomics 18 (12), 1051-1057 (2008)
   PUBMED   18787507
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 1500)
  AUTHORS   Sachs G.
  TITLE     Proton pump inhibitors and acid-related diseases
  JOURNAL   Pharmacotherapy 17 (1), 22-37 (1997)
   PUBMED   9017763
  REMARK    Review article
REFERENCE   7  (bases 1 to 1500)
  AUTHORS   Callaghan JM, Tan SS, Khan MA, Curran KA, Campbell WG, Smolka AJ,
            Toh BH, Gleeson PA, Wingo CS, Cain BD et al.
  TITLE     Renal expression of the gene encoding the gastric H(+)-K(+)-ATPase
            beta-subunit
  JOURNAL   Am J Physiol 268 (3 Pt 2), F363-F374 (1995)
   PUBMED   7900835
REFERENCE   8  (bases 1 to 1500)
  AUTHORS   Song I, Brown DR, Yamada T and Trent JM.
  TITLE     Mapping of the gene encoding the beta-subunit of H+,K(+)-ATPase to
            human chromosome 13q34 by fluorescence in situ hybridization
  JOURNAL   Genomics 14 (4), 1114-1115 (1992)
   PUBMED   1335958
REFERENCE   9  (bases 1 to 1500)
  AUTHORS   Ma JY, Song YH, Sjostrand SE, Rask L and Mardh S.
  TITLE     cDNA cloning of the beta-subunit of the human gastric H,K-ATPase
  JOURNAL   Biochem Biophys Res Commun 180 (1), 39-45 (1991)
   PUBMED   1656976
REFERENCE   10  (bases 1 to 1500)
  AUTHORS   Maeda M, Oshiman K, Tamura S and Futai M.
  TITLE     Human gastric (H+ + K+)-ATPase gene. Similarity to (Na+ + K+)-ATPase
            genes in exon/intron organization but difference in control region
  JOURNAL   J Biol Chem 265 (16), 9027-9032 (1990)
   PUBMED   2160952
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC029059.1, M75110.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2157511
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000335288.5/ ENSP00000334216.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA964061.1, BC029059.1,
            BI764514.1 and BX100065.1.
            On May 17, 2019 this sequence version replaced NM_000705.3.
            Summary: The protein encoded by this gene belongs to a family of
            P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a
            heterodimer consisting of a high molecular weight catalytic alpha
            subunit and a smaller but heavily glycosylated beta subunit. This
            enzyme is a proton pump that catalyzes the hydrolysis of ATP
            coupled with the exchange of H(+) and K(+) ions across the plasma
            membrane. It is also responsible for gastric acid secretion. This
            gene encodes the beta subunit of the gastric H+, K+-ATPase.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1500
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     gene            1..1500
                     /gene="ATP4B"
                     /gene_synonym="ATP6B"
                     /note="ATPase H+/K+ transporting subunit beta"
                     /db_xref="GeneID:496"
                     /db_xref="HGNC:HGNC:820"
                     /db_xref="MIM:137217"
     CDS             55..930
                     /gene="ATP4B"
                     /gene_synonym="ATP6B"
                     /note="gastric hydrogen-potassium ATPase, beta; proton pump
                     beta chain; gastric H+/K+ ATPase beta subunit;
                     potassium-transporting ATPase beta chain; ATPase, H+/K+
                     transporting, beta polypeptide; gastric H(+)/K(+) ATPase
                     subunit beta; ATPase, H+/K+ exchanging, beta polypeptide;
                     ATPase H+/K+ transporting beta subunit"
                     /codon_start=1
                     /product="potassium-transporting ATPase subunit beta"
                     /protein_id="NP_000696.1"
                     /db_xref="CCDS:CCDS9539.1"
                     /db_xref="GeneID:496"
                     /db_xref="HGNC:HGNC:820"
                     /db_xref="MIM:137217"
                     /translation="MAALQEKKTCGQRMEEFQRYCWNPDTGQMLGRTLSRWVWISLYYV
                     AFYVVMTGLFALCLYVLMQTVDPYTPDYQDQLRSPGVTLRPDVYGEKGLEIVYNVSDNR
                     TWADLTQTLHAFLAGYSPAAQEDSINCTSEQYFFQESFRAPNHTKFSCKFTADMLQNCS
                     GLADPNFGFEEGKPCFIIKMNRIVKFLPSNGSAPRVDCAFLDQPRELGQPLQVKYYPPN
                     GTFSLHYFPYYGKKAQPHYSNPLVAAKLLNIPRNAEVAIVCKVMAEHVTFNNPHDPYEG
                     KVEFKLKIEK"
     misc_feature    163..225
                     /gene="ATP4B"
                     /gene_synonym="ATP6B"
                     /note="propagated from UniProtKB/Swiss-Prot (P51164.1);
                     transmembrane region"
     misc_feature    349..351
                     /gene="ATP4B"
                     /gene_synonym="ATP6B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000250|UniProtKB:P18597; propagated from
                     UniProtKB/Swiss-Prot (P51164.1); glycosylation site"
     misc_feature    361..363
                     /gene="ATP4B"
                     /gene_synonym="ATP6B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000250|UniProtKB:P18597; propagated from
                     UniProtKB/Swiss-Prot (P51164.1); glycosylation site"
     misc_feature    442..444
                     /gene="ATP4B"
                     /gene_synonym="ATP6B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000250|UniProtKB:P18597; propagated from
                     UniProtKB/Swiss-Prot (P51164.1); glycosylation site"
     misc_feature    490..492
                     /gene="ATP4B"
                     /gene_synonym="ATP6B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000250|UniProtKB:P18597; propagated from
                     UniProtKB/Swiss-Prot (P51164.1); glycosylation site"
     misc_feature    535..537
                     /gene="ATP4B"
                     /gene_synonym="ATP6B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000250|UniProtKB:P18597; propagated from
                     UniProtKB/Swiss-Prot (P51164.1); glycosylation site"
     misc_feature    631..633
                     /gene="ATP4B"
                     /gene_synonym="ATP6B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000250|UniProtKB:P18597; propagated from
                     UniProtKB/Swiss-Prot (P51164.1); glycosylation site"
     misc_feature    634..927
                     /gene="ATP4B"
                     /gene_synonym="ATP6B"
                     /note="propagated from UniProtKB/Swiss-Prot (P51164.1);
                     Region: immunoglobulin-like"
     misc_feature    718..720
                     /gene="ATP4B"
                     /gene_synonym="ATP6B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000250|UniProtKB:P18597; propagated from
                     UniProtKB/Swiss-Prot (P51164.1); glycosylation site"
     regulatory      1412..1417
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP4B"
                     /gene_synonym="ATP6B"
                     /note="hexamer: ATTAAA"
     polyA_site      1442
                     /gene="ATP4B"
                     /gene_synonym="ATP6B"
                     /note="major polyA site"
     regulatory      1474..1479
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP4B"
                     /gene_synonym="ATP6B"
                     /note="hexamer: AATAAA"
     polyA_site      1500
                     /gene="ATP4B"
                     /gene_synonym="ATP6B"
                     /note="major polyA site"
ORIGIN
        1 agtctgggcg tagagggtgc agggagcaga cgggaggatc tcaggccagg gacgatggcg
       61 gctctgcagg agaagaagac gtgtggccag cgcatggagg agttccagcg ttactgctgg
      121 aacccggaca cggggcagat gctgggccgc accctgtccc ggtgggtgtg gatcagcctg
      181 tactacgtgg ccttctacgt ggtgatgact gggctcttcg ccctgtgcct ctatgtgctg
      241 atgcagacag tggacccgta cacaccggac taccaagacc agctacggtc accaggggta
      301 accttaaggc cggatgttta cggggagaaa ggcctggaaa ttgtctacaa cgtctctgat
      361 aacagaacct gggcagacct cacacagact ctccacgcct tcctagcagg ctactctcca
      421 gcagcccagg aggacagcat caactgcacc tccgagcagt acttcttcca ggagagtttc
      481 cgcgctccca accacaccaa gttctcctgc aagttcacgg cagatatgct gcagaactgc
      541 tcaggcctgg cggatcccaa cttcggcttt gaagaaggaa agccatgttt tattattaaa
      601 atgaacagga tcgtcaagtt cctccccagc aacggctcgg cccccagagt ggactgcgcc
      661 ttcctggacc agccccgcga gctcggccag ccgctgcagg tcaagtacta ccctcccaac
      721 ggcaccttca gtctgcacta cttcccttat tacgggaaga aagcccagcc ccactacagc
      781 aaccccctgg tggcagcgaa gctcctcaac atccccagga acgctgaggt cgccatcgtg
      841 tgcaaggtca tggcggagca cgtgaccttc aacaatcccc acgacccgta tgaagggaaa
      901 gtggagttca aactcaagat tgagaagtga aacggtttgc gcaggggtcc tgggcacgcc
      961 tgcggggtcg ctcaaggaca ccctcctggt tgggcttacc ttgcccgtca gttccctgcc
     1021 aaatcatccc caaagtggtt tggagcaacg gtgttgtcag tgtgcgaact ccagagaagc
     1081 gcccacatct gaaggacctg ctcgcgagta tcagttcttc cttgttgaat tcttacagtt
     1141 tttagatgga atttgctgct ataagaatgt ccagctacca tgggaacgca aggcagcaac
     1201 tctctaatta accaggtcat aaaaacgatt cgtcttctat gtagacatca ctttcttact
     1261 ataatttatt tttctacact tcaatatgaa ctgccccccc cacattaata taaaaactac
     1321 taatgcactg atatgaaaca cggcttacac taatgacatt ctgaattctt gcttttaaaa
     1381 ttgcaattcc taagttgtaa acataaaata tattaaagtt actcttattg tatgtaaaaa
     1441 aagaaatcgt gtttcctgat atgggagaaa ttaaataaaa accaaacgct tccttaaaaa
//
LOCUS       NM_000706               6222 bp    mRNA    linear   PRI 26-JUN-2023
DEFINITION  Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.
ACCESSION   NM_000706
VERSION     NM_000706.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6222)
  AUTHORS   Tanaka H, Nishina K, Shou Q, Takahashi H, Sakagami M, Matsuda T,
            Inoue-Murayama M and Takagishi H.
  TITLE     Association between arginine vasopressin receptor 1A (AVPR1A)
            polymorphism and inequity aversion
  JOURNAL   Proc Biol Sci 290 (2000), 20230378 (2023)
   PUBMED   37312550
  REMARK    GeneRIF: Association between arginine vasopressin receptor 1A
            (AVPR1A) polymorphism and inequity aversion.
REFERENCE   2  (bases 1 to 6222)
  AUTHORS   Heidman LM, Peinetti N, Copello VA and Burnstein KL.
  TITLE     Exploiting Dependence of Castration-Resistant Prostate Cancer on the
            Arginine Vasopressin Signaling Axis by Repurposing Vaptans
  JOURNAL   Mol Cancer Res 20 (8), 1295-1304 (2022)
   PUBMED   35503085
  REMARK    GeneRIF: Exploiting Dependence of Castration-Resistant Prostate
            Cancer on the Arginine Vasopressin Signaling Axis by Repurposing
            Vaptans.
REFERENCE   3  (bases 1 to 6222)
  AUTHORS   Vollebregt O, Koyama E, Zai CC, Shaikh SA, Lisoway AJ, Kennedy JL
            and Beitchman JH.
  TITLE     Evidence for association of vasopressin receptor 1A promoter region
            repeat with childhood onset aggression
  JOURNAL   J Psychiatr Res 140, 522-528 (2021)
   PUBMED   34161896
  REMARK    GeneRIF: Evidence for association of vasopressin receptor 1A
            promoter region repeat with childhood onset aggression.
REFERENCE   4  (bases 1 to 6222)
  AUTHORS   Gao X, Enten GA, DeSantis AJ and Majetschak M.
  TITLE     Class A G protein-coupled receptors assemble into functional
            higher-order hetero-oligomers
  JOURNAL   FEBS Lett 595 (14), 1863-1875 (2021)
   PUBMED   34032285
  REMARK    GeneRIF: Class A G protein-coupled receptors assemble into
            functional higher-order hetero-oligomers.
REFERENCE   5  (bases 1 to 6222)
  AUTHORS   Rivera-Hechem MI, Rodriguez-Sickert C, Guzman RA, Ramirez-Parada T,
            Benavides F, Landaeta-Torres V, Aspe-Sanchez M and Repetto GM.
  TITLE     No association between genetic variants in MAOA, OXTR, and AVPR1a
            and cooperative strategies
  JOURNAL   PLoS One 15 (12), e0244189 (2020)
   PUBMED   33362272
  REMARK    GeneRIF: No association between genetic variants in MAOA, OXTR, and
            AVPR1a and cooperative strategies. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 6222)
  AUTHORS   Thibonnier M, Graves MK, Wagner MS, Auzan C, Clauser E and Willard
            HF.
  TITLE     Structure, sequence, expression, and chromosomal localization of the
            human V1a vasopressin receptor gene
  JOURNAL   Genomics 31 (3), 327-334 (1996)
   PUBMED   8838314
REFERENCE   7  (bases 1 to 6222)
  AUTHORS   Hirasawa A, Shibata K, Kotosai K and Tsujimoto G.
  TITLE     Cloning, functional expression and tissue distribution of human cDNA
            for the vascular-type vasopressin receptor
  JOURNAL   Biochem Biophys Res Commun 203 (1), 72-79 (1994)
   PUBMED   8074728
REFERENCE   8  (bases 1 to 6222)
  AUTHORS   Cross SH, Charlton JA, Nan X and Bird AP.
  TITLE     Purification of CpG islands using a methylated DNA binding column
  JOURNAL   Nat Genet 6 (3), 236-244 (1994)
   PUBMED   8012384
REFERENCE   9  (bases 1 to 6222)
  AUTHORS   Thibonnier M, Auzan C, Madhun Z, Wilkins P, Berti-Mattera L and
            Clauser E.
  TITLE     Molecular cloning, sequencing, and functional expression of a cDNA
            encoding the human V1a vasopressin receptor
  JOURNAL   J Biol Chem 269 (5), 3304-3310 (1994)
   PUBMED   8106369
REFERENCE   10  (bases 1 to 6222)
  AUTHORS   Young WS 3rd, Kovacs K and Lolait SJ.
  TITLE     The diurnal rhythm in vasopressin V1a receptor expression in the
            suprachiasmatic nucleus is not dependent on vasopressin
  JOURNAL   Endocrinology 133 (2), 585-590 (1993)
   PUBMED   8344200
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.90892.1,
            SRR1803613.94958.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN04284274
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence (PMID:
            8838314)
            MANE Ensembl match :: ENST00000299178.4/ ENSP00000299178.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135584.2, AF101725.1 and
            AA533159.1.
            On Aug 14, 2019 this sequence version replaced NM_000706.4.
            Summary: The protein encoded by this gene acts as receptor for
            arginine vasopressin. This receptor belongs to the subfamily of
            G-protein coupled receptors which includes AVPR1B, V2R and OXT
            receptors. Its activity is mediated by G proteins which stimulate a
            phosphatidylinositol-calcium second messenger system. The receptor
            mediates cell contraction and proliferation, platelet aggregation,
            release of coagulation factor and glycogenolysis. [provided by
            RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..6222
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.2"
     gene            1..6222
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="arginine vasopressin receptor 1A"
                     /db_xref="GeneID:552"
                     /db_xref="HGNC:HGNC:895"
                     /db_xref="MIM:600821"
     misc_feature    171..173
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="upstream in-frame stop codon"
     misc_feature    357..359
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MDS"
     CDS             366..1622
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="antidiuretic hormone receptor 1A;
                     vascular/hepatic-type arginine vasopressin receptor; V1a
                     vasopressin receptor; V1-vascular vasopressin receptor
                     AVPR1A; SCCL vasopressin subtype 1a receptor"
                     /codon_start=1
                     /product="vasopressin V1a receptor"
                     /protein_id="NP_000697.1"
                     /db_xref="CCDS:CCDS8965.1"
                     /db_xref="GeneID:552"
                     /db_xref="HGNC:HGNC:895"
                     /db_xref="MIM:600821"
                     /translation="MRLSAGPDAGPSGNSSPWWPLATGAGNTSREAEALGEGNGPPRDV
                     RNEELAKLEIAVLAVTFAVAVLGNSSVLLALHRTPRKTSRMHLFIRHLSLADLAVAFFQ
                     VLPQMCWDITYRFRGPDWLCRVVKHLQVFGMFASAYMLVVMTADRYIAVCHPLKTLQQP
                     ARRSRLMIAAAWVLSFVLSTPQYFVFSMIEVNNVTKARDCWATFIQPWGSRAYVTWMTG
                     GIFVAPVVILGTCYGFICYNIWCNVRGKTASRQSKGAEQAGVAFQKGFLLAPCVSSVKS
                     ISRAKIRTVKMTFVIVTAYIVCWAPFFIIQMWSVWDPMSVWTESENPTITITALLGSLN
                     SCCNPWIYMFFSGHLLQDCVQSFPCCQNMKEKFNKEDTDSMSRRQTFYSNNRSPTNSTG
                     MWKDSPKSSKSIKFIPVST"
     misc_feature    366..494
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="propagated from UniProtKB/Swiss-Prot (P37288.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    444..446
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P37288.1); glycosylation site"
     misc_feature    522..593
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="propagated from UniProtKB/Swiss-Prot (P37288.1);
                     transmembrane region"
     misc_feature    630..695
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="propagated from UniProtKB/Swiss-Prot (P37288.1);
                     transmembrane region"
     misc_feature    741..806
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="propagated from UniProtKB/Swiss-Prot (P37288.1);
                     transmembrane region"
     misc_feature    870..935
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="propagated from UniProtKB/Swiss-Prot (P37288.1);
                     transmembrane region"
     misc_feature    951..953
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P37288.1); glycosylation site"
     misc_feature    1020..1082
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="propagated from UniProtKB/Swiss-Prot (P37288.1);
                     transmembrane region"
     misc_feature    1245..1304
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="propagated from UniProtKB/Swiss-Prot (P37288.1);
                     transmembrane region"
     misc_feature    1359..1418
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="propagated from UniProtKB/Swiss-Prot (P37288.1);
                     transmembrane region"
     misc_feature    1494..1595
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="propagated from UniProtKB/Swiss-Prot (P37288.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1575..1577
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q62463; propagated from
                     UniProtKB/Swiss-Prot (P37288.1); phosphorylation site"
     polyA_site      6175
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="major polyA site"
     regulatory      6200..6205
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="hexamer: TATAAA"
     polyA_site      6222
                     /gene="AVPR1A"
                     /gene_synonym="AVPR V1a; AVPR1; V1aR"
                     /note="major polyA site"
ORIGIN
        1 aaccagcagt cttccggcaa tagggcggga gggagcgcgt cccaaggaaa caagcaccgc
       61 ataaatactt gagttgggaa cccagtgctt ccggaagctc ggagctcacc ttcccgacct
      121 cgccgaagtt gaaaaaaggc agagcaggga gaggggccag ctcaccctgc tgagagctgc
      181 tcagtgggca ggcgggacgc tgctccggga gacgcccact ggagggatcg cagagcccgg
      241 caagctgcga gcgcgccaaa gaccctgcgc ttcggacgag gagcccaagt cctccgagac
      301 ggggagggag cggcccgcga gggctggagc tccgaagagg gccgagtagg agctgcatgg
      361 acagcatgcg tctctccgcc ggtcccgacg cggggccctc gggcaactcc agcccatggt
      421 ggcctctggc caccggcgct ggcaacacaa gccgggaggc cgaagccctc ggggagggca
      481 acggcccacc gagggacgtg cgcaacgagg agctggccaa actggagatc gccgtgctgg
      541 cggtgacttt cgcggtggcc gtgctgggca acagcagcgt actgctggct ctgcaccgga
      601 cgccgcgcaa gacgtcccgc atgcacctct tcatccgaca cctcagcctg gccgacctgg
      661 ccgtggcatt cttccaggtg ctgccgcaaa tgtgctggga catcacctac cgcttccgcg
      721 gccccgactg gctgtgccgc gtggtgaagc acctgcaggt gttcggcatg tttgcgtcgg
      781 cctacatgct ggtagtcatg acagccgacc gctacatcgc ggtgtgccac ccgctcaaga
      841 ctctgcaaca gcccgcgcgc cgctcgcgcc tcatgatcgc ggccgcctgg gtgctgagct
      901 tcgtgctgag cacgccgcag tacttcgtct tctccatgat cgaggtgaac aatgtcacca
      961 aggcccgcga ctgctgggcc accttcatcc agccctgggg ttctcgtgcc tacgtgacct
     1021 ggatgacggg cggcatcttt gtggcgcccg tggtcatctt gggtacctgc tacggcttca
     1081 tctgctacaa catctggtgc aacgtccgcg ggaagacggc gtcgcgccag agcaagggtg
     1141 cagagcaagc gggtgtggcc ttccaaaagg ggttcctgct cgcaccctgt gtcagcagcg
     1201 tgaagtccat ttcccgggcc aagatccgca cggtgaagat gacttttgtg atcgtgacgg
     1261 cttacatcgt ctgctgggcg cctttcttca tcatccagat gtggtctgtc tgggatccca
     1321 tgtccgtctg gaccgaatcg gaaaacccta ccatcaccat cactgcatta ctgggttcct
     1381 tgaatagctg ctgtaatccc tggatataca tgttttttag tggccatctc cttcaagact
     1441 gtgttcaaag cttcccatgc tgccaaaaca tgaaggaaaa attcaacaaa gaagatactg
     1501 acagtatgag cagaagacag actttttatt ctaacaatcg aagcccaaca aacagtacgg
     1561 gtatgtggaa ggactcgcct aaatcttcca agtccatcaa attcattcct gtttcaactt
     1621 gagccttgca ttcatgcaac ttgattcttg tgattgactt tttggctcat tagctgaatt
     1681 gagctagaaa tcacaagaac aaatacactt tattaatata accataaatc aattcattgt
     1741 gtatgagact gtgtttctag ttgcattttc atattgctac caaaaactag acattatttt
     1801 gtatggaata ttaatggaaa catgctgtac taaaatatgc aggtctgatt cccagaaata
     1861 caacagaagt tatattttta aaggaaaaat cataaccacc ctagctttat attttgttgt
     1921 tagtttcttt tattttcatt tctaacataa gtaagacttg attggtttaa aagtcacata
     1981 aaatgcggca ctatttctga acaaagagag ctcatcatca gtcttaatat tcagagaaaa
     2041 cttcagagaa attatgtttt catccattaa aattaatttg tgcatcagaa aatgcagcct
     2101 taaacagtgt ccaggagatg ggatggtacc tcctaggagt acaagtgcct ggggtgtaat
     2161 gagctcctgc tcattgtggc cagtttagag ttctattaga agctatcaat caccttgcat
     2221 ttcaaaatgg taactttaca actggcagtg gcctcctttt ggttcctcac atattattgg
     2281 tcaagaaaag catgaaaact gagatgctga aggtgagagg aaatgttgac tggccaaaaa
     2341 tatctttttt cccccactgc gaggttgttt taaagtcaga tttgtataag gaaagccaaa
     2401 ttttattaaa agagtagaaa aggattgctt aaggtactct ggactttctc ttggacattg
     2461 taaacgtatt ttgatcagtg ttacaagggt atcctgtgct atgctggaca ttaacaagat
     2521 cattatcttc atgtttgggg aattcagatt cataatatga gtatcctaaa gagtgactca
     2581 ggatataaag tgtcccaaca tgtttaatta aaaatagctt tgtctttcca atctctcact
     2641 catctaacaa ttgcaaagca gagatgagac agggttggga catgggtgac agatggaaag
     2701 agaactgctc tgtgcccaga ctggcttcct tcattattaa atccacaact ttaggcaagt
     2761 ttcttaaaca catataaagc ctctgtttcc ttgacttacc gtggggttga taacacttac
     2821 ctcacagggt tgttgtaagg actaaatgaa atcaaatatg ttaaaagagc ttcagaaata
     2881 gtaaagtact atacacatgc tagcagttgc ttttattata gccttgggat ctccaaaatt
     2941 gcacagatgt tttccagttt atttttcatt aactagaatt ggttcatttc atggctggga
     3001 tataaaatcc taaaatttaa atatagatcg ctgattcatt ggacaacatt tccagtgact
     3061 gctcagcttg acttctcctg cctgactaaa gttttccaat ttaaagacag aacttgcttt
     3121 tctttgaatg caggtagatc aaagccaccc acaagcatca attttttcca tttttaaacg
     3181 gagaccaatt acactacttt gctgttatta catttttcat taatggaact cagtgatttt
     3241 tttcctagct attttgtctg gctgcttctt cttcttagag atcatgcaat gatttgagga
     3301 tacatcataa atattttgca tccttaagag gaagtaatag ttgctttttt tttttttgaa
     3361 acagagtctt gctcttttgc caggctggag tgcagtggcg tgatctcggc tcactgcaac
     3421 ctccgcttcc tgggttcaag cgattctcct gcctcagcct cccgagtagc tgggactata
     3481 tgcatgtgcc accacaccca gctaattttt atatttttag tagagatggg gtttcaccat
     3541 gttggccagc atggttttaa tagtattatt gagtttcttt ttttaccttt gtagataaga
     3601 aaatgagaac tggatagcac tgtgagaacc cggaagcgat aacttcactc ctcttcattc
     3661 ttctgccttt tgaaattctc agcccttagg ctccttgtat tgataggcct aaaaacatgt
     3721 ttccaaatgc tttatagaga ttataaacct agggactccc taggttttca aattcttctt
     3781 tctaaaaata acaaatatgt ctcttaaagg gtactgtcca atataagcca taactaaatt
     3841 aattaattca ttatttgagt tagagtagca tctcagtaac ccagcactcg aagactgtca
     3901 gtccttttaa caactctttg atagttcaaa aactaaagct ttttggtttg gaactaagat
     3961 gaacccattt ttttctaaat ccatttccaa agtaagaacc tcagaaccta tagatcttgc
     4021 ttcaaaatgt tgatatgtac ccccaagcaa aacaattcaa tttgaatgtt atttctgaga
     4081 acagctcaca aaaaaaagtg catatcaccc tacccagttg tattttctcc ttttaaatgt
     4141 attgggagat gagacagtag aaaatgggct ggggaaacat gagatctggg tgctagttct
     4201 gcactaggca aatacatggt cttattctct gcggtttagg ctgagaagtt tcatctgtct
     4261 ggttgctaaa ttttctcaat gttatgtacc cagaaatgga cgccacatat ctcaaaacaa
     4321 tatttcagat tggaaggaat ctacctgcct gtctgtttca gaagaagaga aactgaaaaa
     4381 gtattccggg aagggaagtt ttccttttct tgactaaaga gaagacctga gatattatgc
     4441 caaataacag cttacagtca agaaaaaaat gtgttgcagc accttatttt atttttcaca
     4501 gttaacagtg ggaagatcct gcaagtacac aattttaatg cctctatatg ggtattagga
     4561 atgtgatata taaaaaatgt ccagtaggga gaaactaatc agttgggcat ttgatgaata
     4621 ttaactgatg atggtaaata aacaatttag agtgcattat taagtgctta atgggttaat
     4681 tttggagcat gtattctaaa gtgtaaaact acttggcttt tattttgaaa tttcatttgg
     4741 aacacaattg tgaaggaaat cagtgaaatt cttgggttaa ttatatactt gttttacata
     4801 tagaatttct atcatcatca aacaagtctt atgccatgat ttcgggaagg gtatggtttt
     4861 agagaaaaaa atactaagca gtcttaatga tacacaggac cctgccaagc ttattacagt
     4921 ttctagaatg gacaactact aatgattaag aaacaacttt catctgttat tacacaagaa
     4981 acccgattag gttaaagttt gatgttttca gactctaaag cctatgtttt tgtaacttaa
     5041 ttggactttc agagtgttaa attatggctt cagagtttgg ctctacctaa aatttagtta
     5101 gatgccaacc agggagaaat taaacctaat ccttcacccc aaatatcaga ggttagacaa
     5161 acccatgtta attggagcct tatggttatt catattggag gcaatagctt tatttagagg
     5221 aagcccagga cagggccgtc tgggatgcta gttctggaaa tgcagaagca gccactgtat
     5281 ccctgcccac cccctccatc cagccctttt ggtactactc agtattgttg acaacatttg
     5341 gaatcataag taacatagga cagtaagtat tagagaatga ttctccgtta gaattggacc
     5401 tcagccgatt tgagccaaaa tttaggaact attcagaaga cagtttcttt cttttgagtg
     5461 cttaagacag tgtaaatggt tcgaatcaca cacattttaa gattccattg tatacataag
     5521 cattttaaga atattgtttt aacataatta ttaggcatac taagttatca tgaatgaaaa
     5581 tgtacatgtg acctgtagta tgttatatat tattatggct aaatgttaaa tgccattttt
     5641 ttgcttttta gttttatgta tttttgtatg tatataccca catttttaca ttgatttatg
     5701 ttctaaataa taattaaaac aaagtattat aaaatgaatg aaatattttt gtgttccatg
     5761 gtcaaattat taataaattc aggaaagaaa atctgatgat aaatctgata taaataccag
     5821 aataattatt attaatataa aataatattt tcacatatga aggtatgtct tcatactaca
     5881 ggatttctga cttgaatata ttctataatg ctttaattca ttaccataac aaatgtacta
     5941 agaattaatg ttgcatcttt agtattccat tttttggaac tgtttttcaa atgttctata
     6001 tcctctagct tattatgcta tctaaaataa tttcagtgtg ttttttcctg gggcaactga
     6061 atgattcttg ttttgaatga gtgataaaat gttttgtgat agtatctaat atttggtcct
     6121 ttacagaaaa aatggcttgt ggtactatat tgaaaaaact attgtatttc ctcaatttta
     6181 ctgtgtgttg tcttgtttct ataaacaaaa ataagttttg ga
//
LOCUS       NM_000707               5026 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.
ACCESSION   NM_000707
VERSION     NM_000707.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5026)
  AUTHORS   Zhang S, Li N, Wang J, Wang L and Yu Z.
  TITLE     Correlation Between Sleep Electroencephalogram, Brain-Derived
            Neurotrophic Factor, AVPR1B Gene Polymorphism, and Suicidal Behavior
            in Patients with Depression
  JOURNAL   Appl Biochem Biotechnol 195 (5), 2767-2785 (2023)
   PUBMED   36367618
  REMARK    GeneRIF: Correlation Between Sleep Electroencephalogram,
            Brain-Derived Neurotrophic Factor, AVPR1B Gene Polymorphism, and
            Suicidal Behavior in Patients with Depression.
REFERENCE   2  (bases 1 to 5026)
  AUTHORS   Shima T, Jesmin S, Onishi H, Yoshikawa T and Saitoh R.
  TITLE     Physical activity associates empathy in Japanese young adults with
            specific gene variations of oxytocin receptor and vasopressin V1B
            receptor
  JOURNAL   Physiol Behav 255, 113930 (2022)
   PUBMED   35905808
  REMARK    GeneRIF: Physical activity associates empathy in Japanese young
            adults with specific gene variations of oxytocin receptor and
            vasopressin V1B receptor.
REFERENCE   3  (bases 1 to 5026)
  AUTHORS   Shichi H, Fukuoka H, Kanzawa M, Yamamoto M, Yamamoto N, Suzuki M,
            Urai S, Matsumoto R, Kanie K, Fujita Y, Bando H, Iguchi G, Inoshita
            N, Yamada S, Takahashi Y and Ogawa W.
  TITLE     Responsiveness to DDAVP in Cushing's disease is associated with USP8
            mutations through enhancing AVPR1B promoter activity
  JOURNAL   Pituitary 25 (3), 496-507 (2022)
   PUBMED   35451730
  REMARK    GeneRIF: Responsiveness to DDAVP in Cushing's disease is associated
            with USP8 mutations through enhancing AVPR1B promoter activity.
REFERENCE   4  (bases 1 to 5026)
  AUTHORS   Yeung ML, Teng JLL, Jia L, Zhang C, Huang C, Cai JP, Zhou R, Chan
            KH, Zhao H, Zhu L, Siu KL, Fung SY, Yung S, Chan TM, To KK, Chan JF,
            Cai Z, Lau SKP, Chen Z, Jin DY, Woo PCY and Yuen KY.
  TITLE     Soluble ACE2-mediated cell entry of SARS-CoV-2 via interaction with
            proteins related to the renin-angiotensin system
  JOURNAL   Cell 184 (8), 2212-2228 (2021)
   PUBMED   33713620
REFERENCE   5  (bases 1 to 5026)
  AUTHORS   Sweeney MD, Zhao Z, Montagne A, Nelson AR and Zlokovic BV.
  TITLE     Blood-Brain Barrier: From Physiology to Disease and Back
  JOURNAL   Physiol Rev 99 (1), 21-78 (2019)
   PUBMED   30280653
  REMARK    Review article
REFERENCE   6  (bases 1 to 5026)
  AUTHORS   Thibonnier M, Preston JA, Dulin N, Wilkins PL, Berti-Mattera LN and
            Mattera R.
  TITLE     The human V3 pituitary vasopressin receptor: ligand binding profile
            and density-dependent signaling pathways
  JOURNAL   Endocrinology 138 (10), 4109-4122 (1997)
   PUBMED   9322919
REFERENCE   7  (bases 1 to 5026)
  AUTHORS   de Keyzer Y, Lenne F, Auzan C, Jegou S, Rene P, Vaudry H, Kuhn JM,
            Luton JP, Clauser E and Bertagna X.
  TITLE     The pituitary V3 vasopressin receptor and the corticotroph phenotype
            in ectopic ACTH syndrome
  JOURNAL   J Clin Invest 97 (5), 1311-1318 (1996)
   PUBMED   8636444
REFERENCE   8  (bases 1 to 5026)
  AUTHORS   Rousseau-Merck MF, Rene P, Derre J, Bienvenu T, Berger R and de
            Keyzer Y.
  TITLE     Chromosomal localization of the human V3 pituitary vasopressin
            receptor gene (AVPR3) to 1q32
  JOURNAL   Genomics 30 (2), 405-406 (1995)
   PUBMED   8586456
REFERENCE   9  (bases 1 to 5026)
  AUTHORS   de Keyzer Y, Auzan C, Lenne F, Beldjord C, Thibonnier M, Bertagna X
            and Clauser E.
  TITLE     Cloning and characterization of the human V3 pituitary vasopressin
            receptor
  JOURNAL   FEBS Lett 356 (2-3), 215-220 (1994)
   PUBMED   7805841
REFERENCE   10  (bases 1 to 5026)
  AUTHORS   Sugimoto T, Saito M, Mochizuki S, Watanabe Y, Hashimoto S and
            Kawashima H.
  TITLE     Molecular cloning and functional expression of a cDNA encoding the
            human V1b vasopressin receptor
  JOURNAL   J Biol Chem 269 (43), 27088-27092 (1994)
   PUBMED   7929452
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L37112.1, D31833.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367126.5/ ENSP00000356094.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC244035.3 and D31833.1.
            On Nov 23, 2018 this sequence version replaced NM_000707.4.
            Summary: The protein encoded by this gene acts as receptor for
            arginine vasopressin. This receptor belongs to the subfamily of
            G-protein coupled receptors which includes AVPR1A, V2R and OXT
            receptors. Its activity is mediated by G proteins which stimulate a
            phosphatidylinositol-calcium second messenger system. The receptor
            is primarily located in the anterior pituitary, where it stimulates
            ACTH release. It is expressed at high levels in ACTH-secreting
            pituitary adenomas as well as in bronchial carcinoids responsible
            for the ectopic ACTH syndrome. A spliced antisense transcript of
            this gene has been reported but its function is not known.
            [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5026
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..5026
                     /gene="AVPR1B"
                     /gene_synonym="AVPR3; V1bR; VPR3"
                     /note="arginine vasopressin receptor 1B"
                     /db_xref="GeneID:553"
                     /db_xref="HGNC:HGNC:896"
                     /db_xref="MIM:600264"
     misc_feature    346..348
                     /gene="AVPR1B"
                     /gene_synonym="AVPR3; V1bR; VPR3"
                     /note="upstream in-frame stop codon"
     CDS             499..1773
                     /gene="AVPR1B"
                     /gene_synonym="AVPR3; V1bR; VPR3"
                     /note="pituitary vasopressin receptor 3; antidiuretic
                     hormone receptor 1B; arginine vasopressin receptor 3; AVPR
                     V3; AVPR V1b; vasopressin V3 receptor; V1B receptor"
                     /codon_start=1
                     /product="vasopressin V1b receptor"
                     /protein_id="NP_000698.1"
                     /db_xref="CCDS:CCDS73015.1"
                     /db_xref="GeneID:553"
                     /db_xref="HGNC:HGNC:896"
                     /db_xref="MIM:600264"
                     /translation="MDSGPLWDANPTPRGTLSAPNATTPWLGRDEELAKVEIGVLATVL
                     VLATGGNLAVLLTLGQLGRKRSRMHLFVLHLALTDLAVALFQVLPQLLWDITYRFQGPD
                     LLCRAVKYLQVLSMFASTYMLLAMTLDRYLAVCHPLRSLQQPGQSTYLLIAAPWLLAAI
                     FSLPQVFIFSLREVIQGSGVLDCWADFGFPWGPRAYLTWTTLAIFVLPVTMLTACYSLI
                     CHEICKNLKVKTQAWRVGGGGWRTWDRPSPSTLAATTRGLPSRVSSINTISRAKIRTVK
                     MTFVIVLAYIACWAPFFSVQMWSVWDKNAPDEDSTNVAFTISMLLGNLNSCCNPWIYMG
                     FNSHLLPRPLRHLACCGGPQPRMRRRLSDGSLSSRHTTLLTRSSCPATLSLSLSLTLSG
                     RPRPEESPRDLELADGEGTAETIIF"
     misc_feature    499..564
                     /gene="AVPR1B"
                     /gene_synonym="AVPR3; V1bR; VPR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P47901.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    559..561
                     /gene="AVPR1B"
                     /gene_synonym="AVPR3; V1bR; VPR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P47901.1); glycosylation site"
     misc_feature    604..675
                     /gene="AVPR1B"
                     /gene_synonym="AVPR3; V1bR; VPR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P47901.1);
                     transmembrane region"
     misc_feature    712..777
                     /gene="AVPR1B"
                     /gene_synonym="AVPR3; V1bR; VPR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P47901.1);
                     transmembrane region"
     misc_feature    823..888
                     /gene="AVPR1B"
                     /gene_synonym="AVPR3; V1bR; VPR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P47901.1);
                     transmembrane region"
     misc_feature    952..1017
                     /gene="AVPR1B"
                     /gene_synonym="AVPR3; V1bR; VPR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P47901.1);
                     transmembrane region"
     misc_feature    1102..1164
                     /gene="AVPR1B"
                     /gene_synonym="AVPR3; V1bR; VPR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P47901.1);
                     transmembrane region"
     misc_feature    1348..1407
                     /gene="AVPR1B"
                     /gene_synonym="AVPR3; V1bR; VPR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P47901.1);
                     transmembrane region"
     misc_feature    1462..1521
                     /gene="AVPR1B"
                     /gene_synonym="AVPR3; V1bR; VPR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P47901.1);
                     transmembrane region"
     misc_feature    1690..1749
                     /gene="AVPR1B"
                     /gene_synonym="AVPR3; V1bR; VPR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P47901.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      5001..5006
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AVPR1B"
                     /gene_synonym="AVPR3; V1bR; VPR3"
                     /note="hexamer: AATAAA"
     polyA_site      5026
                     /gene="AVPR1B"
                     /gene_synonym="AVPR3; V1bR; VPR3"
                     /note="major polyA site"
ORIGIN
        1 gctccagccg ctgctcacca ggcagagcga gcgggcttgg ctggggcttc ctgccctgag
       61 cgcgacaccg actgccccgg accgcgcctc caagcaggct gaagggcttc cgctcttggc
      121 ttccagaaaa gtttggagaa agagaatttg aggcggattg gagggtggta gcccctcccc
      181 agccttcttt ccctcccaga agcctcactc tgcacagcgt cccccattct tcccgtcctg
      241 attccccatc ttcctgaccc ctccttctcc ctctcctggg tcgatcccag tcacattttc
      301 tccttccgaa tctcatcctc cctcctcctc tctatcccag tcctctgaac gatttccgcc
      361 tatttgcaag ccttctccct gtcattctca acgcttctcc tttctctcca cctcccctgc
      421 cactccattt tatccatcaa acctctccac ttgcatccac accctccctt catccttccc
      481 tcccagcaaa ccttgctcat ggattctggg cctctgtggg atgccaaccc cacccctcgg
      541 ggcaccctct ctgcccccaa tgccacaaca ccctggctgg gccgggatga ggagctggcc
      601 aaggtggaga tcggagtcct ggccactgtc ctggtgctgg cgaccggggg caacctggct
      661 gtgctgctga ccctgggcca gctgggccgc aagcgctccc gcatgcacct gttcgtgctg
      721 cacttagccc tgacagacct ggccgtggcg ctcttccagg tgctgccaca gctgctgtgg
      781 gacatcacct accgcttcca gggccccgac ctcctgtgca gggccgtcaa gtacctgcag
      841 gtgctcagca tgtttgcctc cacctacatg ctgctggcca tgacgctgga ccgctacctg
      901 gctgtctgtc accccctgcg cagcctccag cagccaggcc agtccaccta cctgctcatc
      961 gctgctccct ggctgctggc cgccatcttc agcctccctc aagtcttcat tttttccctg
     1021 cgggaggtga tccagggctc aggggtgctg gactgctggg cagacttcgg cttcccttgg
     1081 gggccacggg cctacctcac ctggaccacc ctggctatct tcgttctgcc ggtgaccatg
     1141 ctcacggcct gctacagcct catctgccat gagatctgta aaaacctaaa agtcaagaca
     1201 caggcctggc gggtgggagg agggggctgg aggacttggg acaggccctc accttccacc
     1261 ttagctgcca ccactcgggg gctgccatct cgggtcagca gcatcaacac catctcacgg
     1321 gccaagatcc gaacagtgaa gatgaccttt gtcatcgtgc tggcctacat cgcttgctgg
     1381 gctcccttct tcagtgtcca gatgtggtcc gtgtgggaca agaatgcccc tgatgaagat
     1441 tccaccaatg tggctttcac catctctatg cttttgggca acctcaacag ctgctgcaac
     1501 ccctggatct acatgggctt caacagccac ctgttaccgc ggcccctgcg tcaccttgcc
     1561 tgctgtgggg gtccccagcc caggatgcgc cggcggctct ccgacggcag cctctcgagc
     1621 cgccacacca cgctgctgac ccgctccagc tgcccggcca ccctcagcct cagcctcagc
     1681 ctaaccctca gtgggaggcc caggcctgaa gagtcaccaa gggacttgga gctggcagat
     1741 ggggaaggca ccgctgagac catcatcttt taggaaagac tcgctggggt ctggtactgc
     1801 ccccaggact agtggaggtt ctctgcccac ctcgggcact ggaaatgaga gctgggaggg
     1861 taagggttgg agttagagga gccctgtcta aagcggagcg aaaaggccag aatgggtccc
     1921 ctaccctggt gtcacagctg cccctagtgt gagggctgcc tcataagctc ccaatctcag
     1981 acactggcag tcagggagaa tcaaactgcc tgtctccctg gtcctgccat attcataggg
     2041 tgtccatgca cacatggtgt cccagatcta ggcaggccta ggatggtgct gtctaggggt
     2101 ccacgggtgg caggaattca gaggctggcc ttgtgccctg gctacctgtc tccattctaa
     2161 cctgactggc acatctcagc ctaaccagga gaggggagaa gtgaaaaacc gtgaggagga
     2221 ctctatttgg atcctggatt tgttgttgtt gttgttgttg ttagagagaa aattgcttca
     2281 tgaagaaaag tgaatggata tgtagggatt accctgctgt gcccagctgt ctgttgaagg
     2341 gagatggtct catggagatg caggattcag tatagtacct ggtacctagc aggaactctg
     2401 caaatgccag tccctcttct cctcgtgcca ccccccatga cagcgtggat gacgggaaag
     2461 tgttgtatat tctctgtggt ctggtccact gtcagtgtgg gtgggaagaa agagggaggg
     2521 aaggagaaga tgaaaatggt catcataaaa ttaacagcaa gaataagcct caagggcagc
     2581 agggacttgt ggccctccct cctttcccca acccaccccc cagggaatcc agcctgctct
     2641 ttccccgggg gctacacaga ggagacctcc tttgagaaaa ggtgacatca tcatggctct
     2701 ggacaccctc caggctcttc agagcttcca ccatgaacca tatggatgct gtgatccagt
     2761 taggagcccg ggtttgaatc tcagctctgc cttcagtatc tgtgtgacct tgggtgagtc
     2821 actctccctt tccaggaccc agtctcctca cctgtgtaat aggtgagatg atctctaaac
     2881 tccaaccttc catgactctg caatactgga aatggtgtta cagagaaaca caaaggatat
     2941 tataaccaac agggtctaga agagttgttg catttttatg acaatggcat tgatatactc
     3001 tttgactcaa ttctggtgac ggtgggtccc accatggcca tactgtccac ttttgtcctc
     3061 atctgggatg ctgaatcctc ctccaaggct gggagaggct gcaggccaag gtagaccgag
     3121 gtagaggaag agcatggcac atgctcatta tctccagggg acttttatca tggcatagct
     3181 tccccaaccc aattctgatt ccaattgaag agagagcctt gctggtggaa aagacatcag
     3241 ctgaaacatc agcaaagctg catcctggtt ctgccaccac caatgacaca catcaataaa
     3301 atgctggcca gtccttgcta gcttggttct gagaatcaaa taggactgtg gatataaaag
     3361 tcatttgtaa agtcatgagc tctatactaa cgtaaggaat tactaatcta attaagagct
     3421 cctgagggaa gctctaggga acactttcag tctctacccc tgactcccag ggaagctttg
     3481 aggaatgact gtggctttgc ggatatactt ctttaagagg ccactcagct ctaagaagcc
     3541 tcctgaggct ttctaaaaag aaaagagcct tgctgaatgt tgtgagtgag caaagcgtcc
     3601 cagtccttca gtgctagaga actggagagt gagaccctaa tgggaccaag gctcaggcag
     3661 atgggaggac ccacagtctc cctctcactg agttctgttg cccatgtcag cccctgacat
     3721 ctaatacttc ttccctgtct atctgccctg gtgaagtggg cttagaagcc tcccatgcca
     3781 gccagagctg ttgaatctgc tccttcccct gcttacaaaa gcggcctccc cacccccttg
     3841 ccccatcttt agaccacagt ttctgaccct aatgcctaga gttggtaaat ctttgttctt
     3901 catgatgact gggaggtaga aggaacacca gctgtgtgcc ccaaagacct gggtttgcat
     3961 cttgatctca ccccttttct acctgtatca acttaagcaa gttatccaat ctcccccagc
     4021 aatgctttct tcatttatta aatagaaata gcaatgccca ctttgttggg agggatttgt
     4081 aagattgtag actagagata gagcactcaa cagatgttag agaggggaac aatggcctgg
     4141 ctccagattg catctggtag atgacctcca gggtcctgac ccaaaagagt ctacagttca
     4201 gagaggaaaa gaggagacag acctgggatc aaggctgact aaagcacttt cttgtctacc
     4261 ctttgccttc tatagatccc ctcttactac tatgatattt tctgttttgc attgcacaag
     4321 aataatttac ttggggtggt ggctttggag ccctcattgt tcctcccatg gaaaggctac
     4381 acttgatctt ttccagaaag ctggttctgt cctgtgatat ggacagtggg gagcgactgc
     4441 acactggctg agggcctcgg gaacccattc caggaagctc ctgaaggaaa tggtggatct
     4501 catcggatct atgagtgaaa gttctgcagg acctgtagga ggctcgcctg gacagtctgg
     4561 gccagtggaa gggccttgga tagggttcaa ggaggagggg ccctgtggaa gcaagaagga
     4621 ggctctgtgc tctctggggt gaatcccatt tctgacggct aaccccagga gaaactgaac
     4681 aatgccgtct ctggctgggc acttgtgtaa attgtttatg ccatcctgtg actgtgaatg
     4741 acagtacttt agtcccttaa aacctatgta caagcaggac atgaggggca gacgggacag
     4801 agaggaggac aggaggggtt catcggttga ctacggggat ttctcagaat cgttatgttg
     4861 tttggcacag gccagtactt tcccagataa tgtgtctgtg ttttgtatgt aaatagatca
     4921 cttatctact acagggctat agattcagcc caggctgtag cagttcattc ctgggtcaga
     4981 aacccaggtt gaaattcacc aataaaaaga tttaatatcc aggaaa
//
LOCUS       NM_000709               1742 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens branched chain keto acid dehydrogenase E1 subunit alpha
            (BCKDHA), transcript variant 1, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_000709
VERSION     NM_000709.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1742)
  AUTHORS   Yang J, Xiu J, Sun Y, Liu F, Shang X and Li G.
  TITLE     Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese
            children with maple syrup urine disease
  JOURNAL   J Pediatr Endocrinol Metab 35 (3), 303-312 (2021)
   PUBMED   34883003
  REMARK    GeneRIF: Three novel mutations of the BCKDHA, BCKDHB and DBT genes
            in Chinese children with maple syrup urine disease. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1742)
  AUTHORS   Vargas-Morales JM, Guizar-Heredia R, Mendez-Garcia AL,
            Palacios-Gonzalez B, Schcolnik-Cabrera A, Granados O, Lopez-Barradas
            AM, Vazquez-Manjarrez N, Medina-Vera I, Aguilar-Lopez M,
            Tovar-Palacio C, Ordaz-Nava G, Rocha-Viggiano AK, Medina-Cerda E,
            Torres N, Ordovas JM, Tovar AR, Guevara-Cruz M and Noriega LG.
  TITLE     Association of BCAT2 and BCKDH polymorphisms with clinical,
            anthropometric and biochemical parameters in young adults
  JOURNAL   Nutr Metab Cardiovasc Dis 31 (11), 3210-3218 (2021)
   PUBMED   34511290
  REMARK    GeneRIF: Association of BCAT2 and BCKDH polymorphisms with clinical,
            anthropometric and biochemical parameters in young adults.
REFERENCE   3  (bases 1 to 1742)
  AUTHORS   Fernandez-Lainez C, Alaez-Verson C, Ibarra-Gonzalez I,
            Enriquez-Flores S, Carrillo-Sanchez K, Flores-Lagunes L,
            Guillen-Lopez S, Belmont-Martinez L and Vela-Amieva M.
  TITLE     In silico prediction of the pathogenic effect of a novel variant of
            BCKDHA leading to classical maple syrup urine disease identified
            using clinical exome sequencing
  JOURNAL   Clin Chim Acta 483, 33-38 (2018)
   PUBMED   29673582
  REMARK    GeneRIF: pathogenic effect of a novel variant of BCKDHA leading to
            classical maple syrup urine disease
REFERENCE   4  (bases 1 to 1742)
  AUTHORS   Li X, Yang Y, Gao Q, Gao M, Lv Y, Dong R, Liu Y, Zhang K and Gai Z.
  TITLE     Clinical characteristics and mutation analysis of five Chinese
            patients with maple syrup urine disease
  JOURNAL   Metab Brain Dis 33 (3), 741-751 (2018)
   PUBMED   29307017
  REMARK    GeneRIF: Six different novel genetic variants were validated in
            BCKDHB gene and BCKDHA gene, including c.523 T > C, c.659delA,
            c.550delT, c.863G > A and two gross deletions
REFERENCE   5  (bases 1 to 1742)
  AUTHORS   Zeynalzadeh M, Tafazoli A, Aarabi A, Moghaddassian M, Ashrafzadeh F,
            Houshmand M, Taghehchian N and Abbaszadegan MR.
  TITLE     Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian
            patients with maple syrup urine disease
  JOURNAL   J Pediatr Endocrinol Metab 31 (2), 205-212 (2018)
   PUBMED   29306928
  REMARK    GeneRIF: Data suggest that the following genetic modifications are
            involved in patients with maple syrup urine disease in Iran: (1)
            mutation in BCKDHA (branched chain keto acid dehydrogenase E1
            alpha); (2) mutation in BCKDHB (branched chain keto acid
            dehydrogenase E1 subunit beta); (3) mutation in DBT
            (dihydrolipoamide branched chain transacylase E2; one patient).
REFERENCE   6  (bases 1 to 1742)
  AUTHORS   Strauss,K.A., Puffenberger,E.G. and Carson,V.J.
  TITLE     Maple Syrup Urine Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301495
REFERENCE   7  (bases 1 to 1742)
  AUTHORS   McKean MC, Winkeler KA and Danner DJ.
  TITLE     Nucleotide sequence of the 5' end including the initiation codon of
            cDNA for the E1 alpha subunit of the human branched chain
            alpha-ketoacid dehydrogenase complex
  JOURNAL   Biochim Biophys Acta 1171 (1), 109-112 (1992)
   PUBMED   1420356
REFERENCE   8  (bases 1 to 1742)
  AUTHORS   Mitsubuchi H, Matsuda I, Nobukuni Y, Heidenreich R, Indo Y, Endo F,
            Mallee J and Segal S.
  TITLE     Gene analysis of Mennonite maple syrup urine disease kindred using
            primer-specified restriction map modification
  JOURNAL   J Inherit Metab Dis 15 (2), 181-187 (1992)
   PUBMED   1356170
REFERENCE   9  (bases 1 to 1742)
  AUTHORS   Dariush,N., Fisher,C.W., Cox,R.P. and Chuang,D.T.
  TITLE     Structure of the gene encoding the entire mature E1 alpha subunit of
            human branched-chain alpha-keto acid dehydrogenase complex (1991)
            FEBS Letters 284, 34-38
  JOURNAL   FEBS Lett 291 (2), 376-377 (1991)
   PUBMED   1682165
  REMARK    Correction to:[FEBS Lett. 1991 Jun 17;284(1):34-8. PMID: 2060625]
REFERENCE   10  (bases 1 to 1742)
  AUTHORS   Eisenstein RS, Hoganson G, Miller RH and Harper AE.
  TITLE     Altered phosphorylation state of branched-chain 2-oxo acid
            dehydrogenase in a branched-chain acyltransferase deficient human
            fibroblast cell line
  JOURNAL   J Inherit Metab Dis 14 (1), 37-44 (1991)
   PUBMED   1861457
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC023983.1, SRR3476690.198658.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000269980.7/ ENSP00000269980.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC023983.1, AK298188.1 and
            BQ018849.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000709.3.
            Summary: The branched-chain alpha-keto acid (BCAA) dehydrogenase
            (BCKD) complex is an innter mitochondrial enzyme complex that
            catalyzes the second major step in the catabolism of the
            branched-chain amino acids leucine, isoleucine, and valine. The
            BCKD complex consists of three catalytic components: a
            heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid
            decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a
            dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha
            subunit of the decarboxylase (E1) component. Mutations in this gene
            result in maple syrup urine disease, type IA. Multiple transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, Sep 2009].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1742
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1742
                     /gene="BCKDHA"
                     /gene_synonym="BCKDE1A; MSU; MSUD1; OVD1A"
                     /note="branched chain keto acid dehydrogenase E1 subunit
                     alpha"
                     /db_xref="GeneID:593"
                     /db_xref="HGNC:HGNC:986"
                     /db_xref="MIM:608348"
     CDS             11..1348
                     /gene="BCKDHA"
                     /gene_synonym="BCKDE1A; MSU; MSUD1; OVD1A"
                     /EC_number="1.2.4.4"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; 2-oxoisovalerate dehydrogenase (lipoamide);
                     2-oxoisovalerate dehydrogenase subunit alpha,
                     mitochondrial; branched-chain alpha-keto acid dehydrogenase
                     E1 component alpha chain; BCKDH E1-alpha; branched chain
                     keto acid dehydrogenase E1 alpha protein; branched chain
                     keto acid dehydrogenase E1, alpha polypeptide"
                     /codon_start=1
                     /product="2-oxoisovalerate dehydrogenase subunit alpha,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_000700.1"
                     /db_xref="CCDS:CCDS12581.1"
                     /db_xref="GeneID:593"
                     /db_xref="HGNC:HGNC:986"
                     /db_xref="MIM:608348"
                     /translation="MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQF
                     SSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLK
                     LYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGV
                     LMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYA
                     AKRANANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRG
                     DGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSD
                     DSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAER
                     KPKPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK"
     transit_peptide 11..145
                     /gene="BCKDHA"
                     /gene_synonym="BCKDE1A; MSU; MSUD1; OVD1A"
     misc_feature    107..166
                     /gene="BCKDHA"
                     /gene_synonym="BCKDE1A; MSU; MSUD1; OVD1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P12694.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     146..1345
                     /gene="BCKDHA"
                     /gene_synonym="BCKDE1A; MSU; MSUD1; OVD1A"
                     /product="2-oxoisovalerate dehydrogenase subunit alpha,
                     mitochondrial isoform 1"
     misc_feature    1019..1021
                     /gene="BCKDHA"
                     /gene_synonym="BCKDE1A; MSU; MSUD1; OVD1A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P50136; propagated from
                     UniProtKB/Swiss-Prot (P12694.2); phosphorylation site"
     misc_feature    1022..1024
                     /gene="BCKDHA"
                     /gene_synonym="BCKDE1A; MSU; MSUD1; OVD1A"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P50136; propagated from
                     UniProtKB/Swiss-Prot (P12694.2); phosphorylation site"
     misc_feature    1025..1027
                     /gene="BCKDHA"
                     /gene_synonym="BCKDE1A; MSU; MSUD1; OVD1A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P50136; propagated from
                     UniProtKB/Swiss-Prot (P12694.2); phosphorylation site"
     misc_feature    1049..1051
                     /gene="BCKDHA"
                     /gene_synonym="BCKDE1A; MSU; MSUD1; OVD1A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P50136; propagated from
                     UniProtKB/Swiss-Prot (P12694.2); phosphorylation site"
     misc_feature    1076..1078
                     /gene="BCKDHA"
                     /gene_synonym="BCKDE1A; MSU; MSUD1; OVD1A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P50136; propagated from
                     UniProtKB/Swiss-Prot (P12694.2); acetylation site"
     regulatory      1712..1717
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCKDHA"
                     /gene_synonym="BCKDE1A; MSU; MSUD1; OVD1A"
                     /note="hexamer: AATAAA"
     polyA_site      1742
                     /gene="BCKDHA"
                     /gene_synonym="BCKDE1A; MSU; MSUD1; OVD1A"
                     /note="major polyA site"
ORIGIN
        1 gttagccaag atggcggtag cgatcgctgc agcgagggtc tggcggctaa accgtggttt
       61 gagccaggct gccctcctgc tgctgcggca gcctggggct cggggactgg ctagatctca
      121 cccccccagg cagcagcagc agttttcatc tctggatgac aagccccagt tcccaggggc
      181 ctcggcggag tttatagata agttggaatt catccagccc aacgtcatct ctggaatccc
      241 catctaccgc gtcatggacc ggcaaggcca gatcatcaac cccagcgagg acccccacct
      301 gccgaaggag aaggtgctga agctctacaa gagcatgaca ctgcttaaca ccatggaccg
      361 catcctctat gagtctcagc ggcagggccg gatctccttc tacatgacca actatggtga
      421 ggagggcacg cacgtgggga gtgccgccgc cctggacaac acggacctgg tgtttggcca
      481 gtaccgggag gcaggtgtgc tgatgtatcg ggactacccc ctggaactat tcatggccca
      541 gtgctatggc aacatcagtg acttgggcaa ggggcgccag atgcctgtcc actacggctg
      601 caaggaacgc cacttcgtca ctatctcctc tccactggcc acgcagatcc ctcaggcggt
      661 gggggcggcg tacgcagcca agcgggccaa tgccaacagg gtcgtcatct gttacttcgg
      721 cgagggggca gccagtgagg gggacgccca tgccggcttc aacttcgctg ccacacttga
      781 gtgccccatc atcttcttct gccggaacaa tggctacgcc atctccacgc ccacctctga
      841 gcagtatcgc ggcgatggca ttgcagcacg aggccccggg tatggcatca tgtcaatccg
      901 cgtggatggt aatgatgtgt ttgccgtata caacgccaca aaggaggccc gacggcgggc
      961 tgtggcagag aaccagccct tcctcatcga ggccatgacc tacaggatcg ggcaccacag
     1021 caccagtgac gacagttcag cgtaccgctc ggtggatgag gtcaattact gggataaaca
     1081 ggaccacccc atctcccggc tgcggcacta tctgctgagc caaggctggt gggatgagga
     1141 gcaggagaag gcctggagga agcagtcccg caggaaggtg atggaggcct ttgagcaggc
     1201 cgagcggaag cccaaaccca accccaacct actcttctca gacgtgtatc aggagatgcc
     1261 cgcccagctc cgcaagcagc aggagtctct ggcccgccac ctgcagacct acggggagca
     1321 ctacccactg gatcacttcg ataagtgaga cctgctcagc ccacccccac ccatcctcag
     1381 ctaccccgag aggtagcccc actctaaggg gagcaggggg acctgacagc acaccactgt
     1441 cttccccagt cagctccctc taaaatactc agcggccagg gcggctgcca ctcttcaccc
     1501 ctgctcctcc cggctgttac attgtcaggg gacagcatct gcagcagttg ctgaggctcc
     1561 gtcagccccc tcttcacctg ttgttacagt gccttctccc aggggctggg tgagggcaca
     1621 ttcaggacta gaagcccctc tgggcatggg gtggacatgg caggtcagcc tgtggaactt
     1681 gcgcaggtgc gagtggccag cagaggtcac gaataaactg catctctgcg cctggctctc
     1741 ta
//
LOCUS       NM_000710               1301 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens bradykinin receptor B1 (BDKRB1), transcript variant 1,
            mRNA.
ACCESSION   NM_000710
VERSION     NM_000710.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1301)
  AUTHORS   Dyga W, Obtulowicz A, Mikolajczyk T, Bogdali A, Dubiela P and
            Obtulowicz K.
  TITLE     The Role of Bradykinin Receptors in Hereditary Angioedema Due to
            C1-Inhibitor Deficiency
  JOURNAL   Int J Mol Sci 23 (18), 10332 (2022)
   PUBMED   36142237
  REMARK    GeneRIF: The Role of Bradykinin Receptors in Hereditary Angioedema
            Due to C1-Inhibitor Deficiency. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1301)
  AUTHORS   Bertolini F, Carriero V, Bullone M, Sprio AE, Defilippi I, Sorbello
            V, Gani F, Di Stefano A and Ricciardolo FLM.
  TITLE     Correlation of matrix-related airway remodeling and bradykinin B1
            receptor expression with fixed airflow obstruction in severe asthma
  JOURNAL   Allergy 76 (6), 1886-1890 (2021)
   PUBMED   33284471
  REMARK    GeneRIF: Correlation of matrix-related airway remodeling and
            bradykinin B1 receptor expression with fixed airflow obstruction in
            severe asthma.
REFERENCE   3  (bases 1 to 1301)
  AUTHORS   Sriramula S.
  TITLE     Kinin B1 receptor: A target for neuroinflammation in hypertension
  JOURNAL   Pharmacol Res 155, 104715 (2020)
   PUBMED   32087235
  REMARK    GeneRIF: Kinin B1 receptor: A target for neuroinflammation in
            hypertension. Review article
REFERENCE   4  (bases 1 to 1301)
  AUTHORS   van de Veerdonk FL, Netea MG, van Deuren M, van der Meer JW, de Mast
            Q, Bruggemann RJ and van der Hoeven H.
  TITLE     Kallikrein-kinin blockade in patients with COVID-19 to prevent acute
            respiratory distress syndrome
  JOURNAL   Elife 9, e57555 (2020)
   PUBMED   32338605
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1301)
  AUTHORS   Guimaraes PB, da Silva RF, Hoff CC, Fernandes L, Nakaie CR, Chagas
            JR, Carmona AK, Bader M and Pesquero JB.
  TITLE     Interactions between carboxypeptidase M and kinin B1 receptor in
            endothelial cells
  JOURNAL   Inflamm Res 68 (10), 845-855 (2019)
   PUBMED   31218444
  REMARK    GeneRIF: Our work shows for the first time that the interaction
            between CPM and kinin B1 receptor alters not only B1R pharmacology,
            but also modulates enzyme expression and activity.
REFERENCE   6  (bases 1 to 1301)
  AUTHORS   Brondani LA, Crispim D, Pisco J, Guimaraes JA and Berger M.
  TITLE     The G Allele of the rs12050217 Polymorphism in the BDKRB1 Gene Is
            Associated with Protection for Diabetic Retinopathy
  JOURNAL   Curr Eye Res 44 (9), 994-999 (2019)
   PUBMED   31017477
  REMARK    GeneRIF: The G Allele of the rs12050217 Polymorphism in the BDKRB1
            Gene Is Associated with Protection for Diabetic Retinopathy.
REFERENCE   7  (bases 1 to 1301)
  AUTHORS   Yang X and Polgar P.
  TITLE     Genomic structure of the human bradykinin B1 receptor gene and
            preliminary characterization of its regulatory regions
  JOURNAL   Biochem Biophys Res Commun 222 (3), 718-725 (1996)
   PUBMED   8651911
REFERENCE   8  (bases 1 to 1301)
  AUTHORS   MacNeil T, Bierilo KK, Menke JG and Hess JF.
  TITLE     Cloning and pharmacological characterization of a rabbit bradykinin
            B1 receptor
  JOURNAL   Biochim Biophys Acta 1264 (2), 223-228 (1995)
   PUBMED   7495867
REFERENCE   9  (bases 1 to 1301)
  AUTHORS   Menke JG, Borkowski JA, Bierilo KK, MacNeil T, Derrick AW, Schneck
            KA, Ransom RW, Strader CD, Linemeyer DL and Hess JF.
  TITLE     Expression cloning of a human B1 bradykinin receptor
  JOURNAL   J Biol Chem 269 (34), 21583-21586 (1994)
   PUBMED   8063797
REFERENCE   10  (bases 1 to 1301)
  AUTHORS   Hess JF, Borkowski JA, Young GS, Strader CD and Ransom RW.
  TITLE     Cloning and pharmacological characterization of a human bradykinin
            (BK-2) receptor
  JOURNAL   Biochem Biophys Res Commun 184 (1), 260-268 (1992)
   PUBMED   1314587
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AJ238044.1, AK291970.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in immune response or antiviral
            activity
            MANE Ensembl match          :: ENST00000216629.11/ ENSP00000216629.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB130642.1, AL355102.5 and
            AJ238044.1.
            On Nov 22, 2018 this sequence version replaced NM_000710.3.
            Summary: Bradykinin, a 9 aa peptide, is generated in
            pathophysiologic conditions such as inflammation, trauma, burns,
            shock, and allergy. The protein encoded by this gene belongs to the
            G-protein coupled receptor 1 family. Two types of G-protein coupled
            receptors have been found which bind bradykinin and mediate
            responses to these pathophysiologic conditions. The protein encoded
            by this gene is one of these receptors and is synthesized de novo
            following tissue injury. Receptor binding leads to an increase in
            the cytosolic calcium ion concentration, ultimately resulting in
            chronic and acute inflammatory responses. [provided by RefSeq, Aug
            2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1301
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.2"
     gene            1..1301
                     /gene="BDKRB1"
                     /gene_synonym="B1BKR; B1R; BKB1R; BKR1; BRADYB1"
                     /note="bradykinin receptor B1"
                     /db_xref="GeneID:623"
                     /db_xref="HGNC:HGNC:1029"
                     /db_xref="MIM:600337"
     misc_feature    89..91
                     /gene="BDKRB1"
                     /gene_synonym="B1BKR; B1R; BKB1R; BKR1; BRADYB1"
                     /note="upstream in-frame stop codon"
     CDS             221..1282
                     /gene="BDKRB1"
                     /gene_synonym="B1BKR; B1R; BKB1R; BKR1; BRADYB1"
                     /note="bradykinin receptor 1; BK-1 receptor; bradykinin B1
                     receptor"
                     /codon_start=1
                     /product="B1 bradykinin receptor"
                     /protein_id="NP_000701.2"
                     /db_xref="CCDS:CCDS9943.1"
                     /db_xref="GeneID:623"
                     /db_xref="HGNC:HGNC:1029"
                     /db_xref="MIM:600337"
                     /translation="MASSWPPLELQSSNQSQLFPQNATACDNAPEAWDLLHRVLPTFII
                     SICFFGLLGNLFVLLVFLLPRRQLNVAEIYLANLAASDLVFVLGLPFWAENIWNQFNWP
                     FGALLCRVINGVIKANLFISIFLVVAISQDRYRVLVHPMASRRQQRRRQARVTCVLIWV
                     VGGLLSIPTFLLRSIQAVPDLNITACILLLPHEAWHFARIVELNILGFLLPLAAIVFFN
                     YHILASLRTREEVSRTRCGGRKDSKTTALILTLVVAFLVCWAPYHFFAFLEFLFQVQAV
                     RGCFWEDFIDLGLQLANFFAFTNSSLNPVIYVFVGRLFRTKVWELYKQCTPKSLAPISS
                     SHRKEIFQLFWRN"
     misc_feature    260..262
                     /gene="BDKRB1"
                     /gene_synonym="B1BKR; B1R; BKB1R; BKR1; BRADYB1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P46663.3); glycosylation site"
     misc_feature    284..286
                     /gene="BDKRB1"
                     /gene_synonym="B1BKR; B1R; BKB1R; BKR1; BRADYB1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P46663.3); glycosylation site"
     misc_feature    341..412
                     /gene="BDKRB1"
                     /gene_synonym="B1BKR; B1R; BKB1R; BKR1; BRADYB1"
                     /note="propagated from UniProtKB/Swiss-Prot (P46663.3);
                     transmembrane region"
     misc_feature    440..514
                     /gene="BDKRB1"
                     /gene_synonym="B1BKR; B1R; BKB1R; BKR1; BRADYB1"
                     /note="propagated from UniProtKB/Swiss-Prot (P46663.3);
                     transmembrane region"
     misc_feature    554..619
                     /gene="BDKRB1"
                     /gene_synonym="B1BKR; B1R; BKB1R; BKR1; BRADYB1"
                     /note="propagated from UniProtKB/Swiss-Prot (P46663.3);
                     transmembrane region"
     misc_feature    686..754
                     /gene="BDKRB1"
                     /gene_synonym="B1BKR; B1R; BKB1R; BKR1; BRADYB1"
                     /note="propagated from UniProtKB/Swiss-Prot (P46663.3);
                     transmembrane region"
     misc_feature    773..775
                     /gene="BDKRB1"
                     /gene_synonym="B1BKR; B1R; BKB1R; BKR1; BRADYB1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P46663.3); glycosylation site"
     misc_feature    818..898
                     /gene="BDKRB1"
                     /gene_synonym="B1BKR; B1R; BKB1R; BKR1; BRADYB1"
                     /note="propagated from UniProtKB/Swiss-Prot (P46663.3);
                     transmembrane region"
     misc_feature    962..1036
                     /gene="BDKRB1"
                     /gene_synonym="B1BKR; B1R; BKB1R; BKR1; BRADYB1"
                     /note="propagated from UniProtKB/Swiss-Prot (P46663.3);
                     transmembrane region"
     misc_feature    1094..1162
                     /gene="BDKRB1"
                     /gene_synonym="B1BKR; B1R; BKB1R; BKR1; BRADYB1"
                     /note="propagated from UniProtKB/Swiss-Prot (P46663.3);
                     transmembrane region"
     regulatory      1278..1283
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BDKRB1"
                     /gene_synonym="B1BKR; B1R; BKB1R; BKR1; BRADYB1"
                     /note="hexamer: ATTAAA"
     polyA_site      1301
                     /gene="BDKRB1"
                     /gene_synonym="B1BKR; B1R; BKB1R; BKR1; BRADYB1"
                     /note="major polyA site"
ORIGIN
        1 agcacttccc agaagagaaa actcctccaa aagcagctct cactatcaga aaacccaact
       61 acagttgtga acgccttcat tttctgcctg aggtctcagt ccgtcggccc agactgaagt
      121 gcagtggcac aatcatagct cgctgcagcc tcgaccttcc aggcttaaac gattctccca
      181 cctcagcctc tcgagttgct gggaccacag gtcactgtgc atggcatcat cctggccccc
      241 tctagagctc caatcctcca accagagcca gctcttccct caaaatgcta cggcctgtga
      301 caatgctcca gaagcctggg acctgctgca cagagtgctg ccaacattta tcatctccat
      361 ctgtttcttc ggcctcctag ggaacctttt tgtcctgttg gtcttcctcc tgccccggcg
      421 gcaactgaac gtggcagaaa tctacctggc caacctggca gcctctgatc tggtgtttgt
      481 cttgggcttg cccttctggg cagagaatat ctggaaccag tttaactggc ctttcggagc
      541 cctcctctgc cgtgtcatca acggggtcat caaggccaat ttgttcatca gcatcttcct
      601 ggtggtggcc atcagccagg accgctaccg cgtgctggtg caccctatgg ccagccggag
      661 gcagcagcgg cggaggcagg cccgggtcac ctgcgtgctc atctgggttg tggggggcct
      721 cttgagcatc cccacattcc tgctgcgatc catccaagcc gtcccagatc tgaacatcac
      781 cgcctgcatc ctgctcctcc cccatgaggc ctggcacttt gcaaggattg tggagttaaa
      841 tattctgggt ttcctcctac cactggctgc gatcgtcttc ttcaactacc acatcctggc
      901 ctccctgcga acgcgggagg aggtcagcag gacaaggtgc gggggccgca aggatagcaa
      961 gaccacagcg ctgatcctca cgctcgtggt tgccttcctg gtctgctggg ccccttacca
     1021 cttctttgcc ttcctggaat tcttattcca ggtgcaagca gtccgaggct gcttttggga
     1081 ggacttcatt gacctgggcc tgcaattggc caacttcttt gccttcacta acagctccct
     1141 gaatccagta atttatgtct ttgtgggccg gctcttcagg accaaggtct gggaacttta
     1201 taaacaatgc acccctaaaa gtcttgctcc aatatcttca tcccatagga aagaaatctt
     1261 ccaacttttc tggcggaatt aaaacagcat tgaaccaaga a
//
LOCUS       NM_000712               1074 bp    mRNA    linear   PRI 27-JUL-2023
DEFINITION  Homo sapiens biliverdin reductase A (BLVRA), transcript variant 1,
            mRNA.
ACCESSION   NM_000712
VERSION     NM_000712.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1074)
  AUTHORS   Cimini FA, Barchetta I, Zuliani I, Pagnotta S, Bertoccini L, Dule S,
            Zampieri M, Reale A, Baroni MG, Cavallo MG and Barone E.
  TITLE     Biliverdin reductase-A protein levels are reduced in type 2 diabetes
            and are associated with poor glycometabolic control
  JOURNAL   Life Sci 284, 119913 (2021)
   PUBMED   34453944
  REMARK    GeneRIF: Biliverdin reductase-A protein levels are reduced in type 2
            diabetes and are associated with poor glycometabolic control.
REFERENCE   2  (bases 1 to 1074)
  AUTHORS   Ceccarelli V, Barchetta I, Cimini FA, Bertoccini L, Chiappetta C,
            Capoccia D, Carletti R, Di Cristofano C, Silecchia G, Fontana M,
            Leonetti F, Lenzi A, Baroni MG, Barone E and Cavallo MG.
  TITLE     Reduced Biliverdin Reductase-A Expression in Visceral Adipose Tissue
            is Associated with Adipocyte Dysfunction and NAFLD in Human Obesity
  JOURNAL   Int J Mol Sci 21 (23), 9091 (2020)
   PUBMED   33260451
  REMARK    GeneRIF: Reduced Biliverdin Reductase-A Expression in Visceral
            Adipose Tissue is Associated with Adipocyte Dysfunction and NAFLD in
            Human Obesity. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1074)
  AUTHORS   Kloska D, Kopacz A, Piechota-Polanczyk A, Neumayer C, Huk I, Dulak
            J, Jozkowicz A and Grochot-Przeczek A.
  TITLE     Biliverdin reductase deficiency triggers an
            endothelial-to-mesenchymal transition in human endothelial cells
  JOURNAL   Arch Biochem Biophys 678, 108182 (2019)
   PUBMED   31704097
  REMARK    GeneRIF: Biliverdin reductase deficiency triggers an
            endothelial-to-mesenchymal transition in human endothelial cells
REFERENCE   4  (bases 1 to 1074)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1074)
  AUTHORS   Zhang Z, Amorosa LF, Petrova A, Coyle S, Macor M, Nair M, Lee LY and
            Haimovich B.
  TITLE     TLR4 counteracts BVRA signaling in human leukocytes via differential
            regulation of AMPK, mTORC1 and mTORC2
  JOURNAL   Sci Rep 9 (1), 7020 (2019)
   PUBMED   31065010
  REMARK    GeneRIF: TLR4 counteracts BVRA signaling in human leukocytes via
            differential regulation of AMPK, mTORC1 and mTORC2. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 1074)
  AUTHORS   Cunningham O, Dunne A, Sabido P, Lightner D and Mantle TJ.
  TITLE     Studies on the specificity of the tetrapyrrole substrate for human
            biliverdin-IXalpha reductase and biliverdin-IXbeta reductase.
            Structure-activity relationships define models for both active sites
  JOURNAL   J Biol Chem 275 (25), 19009-19017 (2000)
   PUBMED   10858451
REFERENCE   7  (bases 1 to 1074)
  AUTHORS   Komuro A, Tobe T, Nakano Y, Yamaguchi T and Tomita M.
  TITLE     Cloning and characterization of the cDNA encoding human
            biliverdin-IX alpha reductase
  JOURNAL   Biochim Biophys Acta 1309 (1-2), 89-99 (1996)
   PUBMED   8950184
REFERENCE   8  (bases 1 to 1074)
  AUTHORS   Maines MD, Polevoda BV, Huang TJ and McCoubrey WK Jr.
  TITLE     Human biliverdin IXalpha reductase is a zinc-metalloprotein.
            Characterization of purified and Escherichia coli expressed enzymes
  JOURNAL   Eur J Biochem 235 (1-2), 372-381 (1996)
   PUBMED   8631357
REFERENCE   9  (bases 1 to 1074)
  AUTHORS   Yamaguchi T, Komoda Y and Nakajima H.
  TITLE     Biliverdin-IX alpha reductase and biliverdin-IX beta reductase from
            human liver. Purification and characterization
  JOURNAL   J Biol Chem 269 (39), 24343-24348 (1994)
   PUBMED   7929092
REFERENCE   10  (bases 1 to 1074)
  AUTHORS   Maines MD and Trakshel GM.
  TITLE     Purification and characterization of human biliverdin reductase
  JOURNAL   Arch Biochem Biophys 300 (1), 320-326 (1993)
   PUBMED   8424666
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HM005341.1, SRR1803612.450024.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000265523.9/ ENSP00000265523.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM710258.1, U34877.1 and
            X93086.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000712.3.
            Summary: The protein encoded by this gene belongs to the biliverdin
            reductase family, members of which catalyze the conversion of
            biliverdin to bilirubin in the presence of NADPH or NADH. Mutations
            in this gene are associated with hyperbiliverdinemia. Alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Dec 2011].
            Transcript Variant: This variant (1) represents the predominant
            transcript. Variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1074
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p13"
     gene            1..1074
                     /gene="BLVRA"
                     /gene_synonym="BLVR; BVR; BVRA; BVRalpha"
                     /note="biliverdin reductase A"
                     /db_xref="GeneID:644"
                     /db_xref="HGNC:HGNC:1062"
                     /db_xref="MIM:109750"
     misc_feature    56..58
                     /gene="BLVRA"
                     /gene_synonym="BLVR; BVR; BVRA; BVRalpha"
                     /note="upstream in-frame stop codon"
     CDS             77..967
                     /gene="BLVRA"
                     /gene_synonym="BLVR; BVR; BVRA; BVRalpha"
                     /EC_number="1.3.1.24"
                     /note="BVR A; biliverdin-IX alpha-reductase; testis tissue
                     sperm-binding protein Li 61n; biliverdin reductase IXalpha"
                     /codon_start=1
                     /product="biliverdin reductase A"
                     /protein_id="NP_000703.2"
                     /db_xref="CCDS:CCDS5472.1"
                     /db_xref="GeneID:644"
                     /db_xref="HGNC:HGNC:1062"
                     /db_xref="MIM:109750"
                     /translation="MNAEPERKFGVVVVGVGRAGSVRMRDLRNPHPSSAFLNLIGFVSR
                     RELGSIDGVQQISLEDALSSQEVEVAYICSESSSHEDYIRQFLNAGKHVLVEYPMTLSL
                     AAAQELWELAEQKGKVLHEEHVELLMEEFAFLKKEVVGKDLLKGSLLFTAGPLEEERFG
                     FPAFSGISRLTWLVSLFGELSLVSATLEERKEDQYMKMTVCLETEKKSPLSWIEEKGPG
                     LKRNRYLSFHFKSGSLENVPNVGVNKNIFLKDQNIFVQKLLGQFSEKELAAEKKRILHC
                     LGLAEEIQKYCCSRK"
     mat_peptide     83..964
                     /gene="BLVRA"
                     /gene_synonym="BLVR; BVR; BVRA; BVRalpha"
                     /product="Biliverdin reductase A.
                     /evidence=ECO:0000269|PubMed:8631357. /id=PRO_0000010853"
                     /note="propagated from UniProtKB/Swiss-Prot (P53004.2)"
     misc_feature    596..598
                     /gene="BLVRA"
                     /gene_synonym="BLVR; BVR; BVRA; BVRalpha"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P53004.2); phosphorylation site"
     misc_feature    608..610
                     /gene="BLVRA"
                     /gene_synonym="BLVR; BVR; BVRA; BVRalpha"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P53004.2); phosphorylation site"
     misc_feature    764..766
                     /gene="BLVRA"
                     /gene_synonym="BLVR; BVR; BVRA; BVRalpha"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P53004.2); phosphorylation site"
     misc_feature    818..820
                     /gene="BLVRA"
                     /gene_synonym="BLVR; BVR; BVRA; BVRalpha"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P53004.2); acetylation site"
     misc_feature    833..835
                     /gene="BLVRA"
                     /gene_synonym="BLVR; BVR; BVRA; BVRalpha"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P53004.2); acetylation site"
     regulatory      1050..1055
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLVRA"
                     /gene_synonym="BLVR; BVR; BVRA; BVRalpha"
                     /note="hexamer: ATTAAA"
     polyA_site      1074
                     /gene="BLVRA"
                     /gene_synonym="BLVR; BVR; BVRA; BVRalpha"
                     /note="major polyA site"
ORIGIN
        1 ggtccgcaaa gccggtggcg cccggaggct gcacggagag cggtgcccgc gtcagtgacc
       61 gaaggaagag accaagatga atgcagagcc cgagaggaag tttggcgtgg tggtggttgg
      121 tgttggccga gccggctccg tgcggatgag ggacttgcgg aatccacacc cttcctcagc
      181 gttcctgaac ctgattggct tcgtgtcgag aagggagctc gggagcattg atggagtcca
      241 gcagatttct ttggaggatg ctctttccag ccaagaggtg gaggtcgcct atatctgcag
      301 tgagagctcc agccatgagg actacatcag gcagttcctt aatgctggca agcacgtcct
      361 tgtggaatac cccatgacac tgtcattggc ggccgctcag gaactgtggg agctggctga
      421 gcagaaagga aaagtcttgc acgaggagca tgttgaactc ttgatggagg aattcgcttt
      481 cctgaaaaaa gaagtggtgg ggaaagacct gctgaaaggg tcgctcctct tcacagctgg
      541 cccgttggaa gaagagcggt ttggcttccc tgcattcagc ggcatctctc gcctgacctg
      601 gctggtctcc ctctttgggg agctttctct tgtgtctgcc actttggaag agcgaaagga
      661 agatcagtat atgaaaatga cagtgtgtct ggagacagag aagaaaagtc cactgtcatg
      721 gattgaagaa aaaggacctg gtctaaaacg aaacagatat ttaagcttcc atttcaagtc
      781 tgggtccttg gagaatgtgc caaatgtagg agtgaataag aacatatttc tgaaagatca
      841 aaatatattt gtccagaaac tcttgggcca gttctctgag aaggaactgg ctgctgaaaa
      901 gaaacgcatc ctgcactgcc tggggcttgc agaagaaatc cagaaatatt gctgttcaag
      961 gaagtaagag gaggaggtga tgtagcactt ccaagatggc accagcattt ggttcttctc
     1021 aagagttgac cattatctct attcttaaaa ttaaacatgt tggggaaaca agaa
//
LOCUS       NM_000713                799 bp    mRNA    linear   PRI 13-JUL-2023
DEFINITION  Homo sapiens biliverdin reductase B (BLVRB), mRNA.
ACCESSION   NM_000713
VERSION     NM_000713.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 799)
  AUTHORS   Chemaly M, Marlevi D, Iglesias MJ, Lengquist M, Kronqvist M, Bos D,
            van Dam-Nolen DHK, van der Kolk A, Hendrikse J, Kassem M, Matic L,
            Odeberg J, de Vries MR, Kooi ME and Hedin U.
  TITLE     Biliverdin Reductase B Is a Plasma Biomarker for Intraplaque
            Hemorrhage and a Predictor of Ischemic Stroke in Patients with
            Symptomatic Carotid Atherosclerosis
  JOURNAL   Biomolecules 13 (6), 882 (2023)
   PUBMED   37371462
  REMARK    GeneRIF: Biliverdin Reductase B Is a Plasma Biomarker for
            Intraplaque Hemorrhage and a Predictor of Ischemic Stroke in
            Patients with Symptomatic Carotid Atherosclerosis. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 799)
  AUTHORS   Duff MR, Redzic JS, Ryan LP, Paukovich N, Zhao R, Nix JC, Pitts TM,
            Agarwal P and Eisenmesser EZ.
  TITLE     Structure, dynamics and function of the evolutionarily changing
            biliverdin reductase B family
  JOURNAL   J Biochem 168 (2), 191-202 (2020)
   PUBMED   32246827
  REMARK    GeneRIF: Structure, dynamics and function of the evolutionarily
            changing biliverdin reductase B family.
REFERENCE   3  (bases 1 to 799)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 799)
  AUTHORS   Nesbitt NM, Zheng X, Li Z, Manso JA, Yen WY, Malone LE,
            Ripoll-Rozada J, Pereira PJB, Mantle TJ, Wang J and Bahou WF.
  TITLE     In silico and crystallographic studies identify key structural
            features of biliverdin IXbeta reductase inhibitors having nanomolar
            potency
  JOURNAL   J Biol Chem 293 (15), 5431-5446 (2018)
   PUBMED   29487133
  REMARK    GeneRIF: These results provide promising chemical scaffolds for the
            development of enhanced BLVRB inhibitors and identify chemical
            probes to better dissect the role of biliverdins, alternative
            substrates, and BLVRB function in physiologically relevant cellular
            contexts.
REFERENCE   5  (bases 1 to 799)
  AUTHORS   Li Z, Nesbitt NM, Malone LE, Gnatenko DV, Wu S, Wang D, Zhu W,
            Girnun GD and Bahou WF.
  TITLE     Heme degradation enzyme biliverdin IXbeta reductase is required for
            stem cell glutamine metabolism
  JOURNAL   Biochem J 475 (6), 1211-1223 (2018)
   PUBMED   29500232
  REMARK    GeneRIF: Early stages of lineage fate potential require glutamine
            anaplerotic functions and an intact Pentose phosphate pathway, which
            are, in part, regulated by BLVRB activity. In principle, BLVRB
            inhibition represents an alternative strategy for modulating
            cellular glutamine utilization with consequences for cancer and
            hematopoietic metabolism. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 799)
  AUTHORS   Saito F, Yamaguchi T, Komuro A, Tobe T, Ikeuchi T, Tomita M and
            Nakajima H.
  TITLE     Mapping of the newly identified biliverdin-IX beta reductase gene
            (BLVRB) to human chromosome 19q13.13-->q13.2 by fluorescence in situ
            hybridization
  JOURNAL   Cytogenet Cell Genet 71 (2), 179-181 (1995)
   PUBMED   7656592
REFERENCE   7  (bases 1 to 799)
  AUTHORS   Yamaguchi T, Komoda Y and Nakajima H.
  TITLE     Biliverdin-IX alpha reductase and biliverdin-IX beta reductase from
            human liver. Purification and characterization
  JOURNAL   J Biol Chem 269 (39), 24343-24348 (1994)
   PUBMED   7929092
REFERENCE   8  (bases 1 to 799)
  AUTHORS   Chikuba K, Yubisui T, Shirabe K and Takeshita M.
  TITLE     Cloning and nucleotide sequence of a cDNA of the human erythrocyte
            NADPH-flavin reductase
  JOURNAL   Biochem Biophys Res Commun 198 (3), 1170-1176 (1994)
   PUBMED   8117274
REFERENCE   9  (bases 1 to 799)
  AUTHORS   Yamaguchi T, Komuro A, Nakano Y, Tomita M and Nakajima H.
  TITLE     Complete amino acid sequence of biliverdin-IX beta reductase from
            human liver
  JOURNAL   Biochem Biophys Res Commun 197 (3), 1518-1523 (1993)
   PUBMED   8280170
REFERENCE   10  (bases 1 to 799)
  AUTHORS   Hochstrasser DF, Frutiger S, Paquet N, Bairoch A, Ravier F, Pasquali
            C, Sanchez JC, Tissot JD, Bjellqvist B, Vargas R et al.
  TITLE     Human liver protein map: a reference database established by
            microsequencing and gel comparison
  JOURNAL   Electrophoresis 13 (12), 992-1001 (1992)
   PUBMED   1286669
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.298786.1, AK312137.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2149004 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000263368.9/ ENSP00000263368.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG340491.1, BC109371.1, BU528444.1 and AC010271.8.
            On May 17, 2019 this sequence version replaced NM_000713.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..799
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..799
                     /gene="BLVRB"
                     /gene_synonym="BVRB; FLR; HEL-S-10; SDR43U1"
                     /note="biliverdin reductase B"
                     /db_xref="GeneID:645"
                     /db_xref="HGNC:HGNC:1063"
                     /db_xref="MIM:600941"
     misc_feature    28..30
                     /gene="BLVRB"
                     /gene_synonym="BVRB; FLR; HEL-S-10; SDR43U1"
                     /note="upstream in-frame stop codon"
     CDS             58..678
                     /gene="BLVRB"
                     /gene_synonym="BVRB; FLR; HEL-S-10; SDR43U1"
                     /EC_number="1.3.1.24"
                     /EC_number="1.5.1.30"
                     /note="short chain dehydrogenase/reductase family 43U,
                     member 1; epididymis secretory protein Li 10; FR; GHBP;
                     BVR-B; NADPH-flavin reductase; NADPH-dependent diaphorase;
                     green heme-binding protein; biliverdin-IX beta-reductase"
                     /codon_start=1
                     /product="flavin reductase (NADPH)"
                     /protein_id="NP_000704.1"
                     /db_xref="CCDS:CCDS33029.1"
                     /db_xref="GeneID:645"
                     /db_xref="HGNC:HGNC:1063"
                     /db_xref="MIM:600941"
                     /translation="MAVKKIAIFGATGQTGLTTLAQAVQAGYEVTVLVRDSSRLPSEGP
                     RPAHVVVGDVLQAADVDKTVAGQDAVIVLLGTRNDLSPTTVMSEGARNIVAAMKAHGVD
                     KVVACTSAFLLWDPTKVPPRLQAVTDDHIRMHKVLRESGLKYVAVMPPHIGDQPLTGAY
                     TVTLDGRGPSRVISKHDLGHFMLRCLTTDEYDGHSTYPSHQYQ"
     misc_feature    181..183
                     /gene="BLVRB"
                     /gene_synonym="BVRB; FLR; HEL-S-10; SDR43U1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P30043.3); phosphorylation site"
     misc_feature    301..303
                     /gene="BLVRB"
                     /gene_synonym="BVRB; FLR; HEL-S-10; SDR43U1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P30043.3); phosphorylation site"
     regulatory      738..743
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLVRB"
                     /gene_synonym="BVRB; FLR; HEL-S-10; SDR43U1"
                     /note="hexamer: AATAAA"
     polyA_site      778
                     /gene="BLVRB"
                     /gene_synonym="BVRB; FLR; HEL-S-10; SDR43U1"
                     /note="major polyA site"
     polyA_site      799
                     /gene="BLVRB"
                     /gene_synonym="BVRB; FLR; HEL-S-10; SDR43U1"
ORIGIN
        1 agtgggttcc cgcgcgtgcc gagactctga ggccttgcac ccccacgatc ccgtacgatg
       61 gccgtcaaga agatcgcgat cttcggcgcc actggccaga ccgggctcac caccctggcg
      121 caggcggtgc aagcaggtta cgaagtgaca gtgctggtgc gggactcctc caggctgcca
      181 tcagaggggc cccggccggc ccacgtggta gtgggagatg ttctgcaggc agccgatgtg
      241 gacaagaccg tggctgggca ggacgctgtc atcgtgctgc tgggcacccg caatgacctc
      301 agtcccacga cagtgatgtc cgagggcgcc cggaacattg tggcagccat gaaggctcat
      361 ggtgtggaca aggtcgtggc ctgcacctcg gctttcctgc tctgggaccc taccaaggtg
      421 cccccacgac tgcaggctgt gactgatgac cacatccgga tgcacaaggt gctgcgggaa
      481 tcaggcctga agtacgtggc tgtgatgccg ccacacatag gagaccagcc actaactggg
      541 gcgtacacag tgaccctgga tggacgaggg ccctcaaggg tcatctccaa acatgacctg
      601 ggccatttca tgctgcgctg cctcaccacc gatgagtacg acggacacag cacctacccc
      661 tcccaccagt accagtagca ctctgtcccc atctgggagg gtggcattct gggacatgag
      721 gagcaaagga agggggcaat aaatgttgag ccaagagctt caaattactc tagagaaacc
      781 gactgtgtga ctcttcctc
//
LOCUS       NM_000714                836 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens translocator protein (TSPO), transcript variant PBR,
            mRNA.
ACCESSION   NM_000714
VERSION     NM_000714.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 836)
  AUTHORS   Garland EF, Dennett O, Lau LC, Chatelet DS, Bottlaender M, Nicoll
            JAR and Boche D.
  TITLE     The mitochondrial protein TSPO in Alzheimer's disease: relation to
            the severity of AD pathology and the neuroinflammatory environment
  JOURNAL   J Neuroinflammation 20 (1), 186 (2023)
   PUBMED   37580767
  REMARK    GeneRIF: The mitochondrial protein TSPO in Alzheimer's disease:
            relation to the severity of AD pathology and the neuroinflammatory
            environment. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 836)
  AUTHORS   Menevse AN, Ammer LM, Vollmann-Zwerenz A, Kupczyk M, Lorenz J,
            Weidner L, Hussein A, Sax J, Muhlbauer J, Heuschneider N, Rohrmus C,
            Mai LS, Jachnik B, Stamova S, Volpin V, Durst FC, Sorrentino A,
            Xydia M, Milenkovic VM, Bader S, Braun FK, Wetzel C, Albert NL, Tonn
            JC, Bartenstein P, Proescholdt M, Schmidt NO, Linker RA,
            Riemenschneider MJ, Beckhove P and Hau P.
  TITLE     TSPO acts as an immune resistance gene involved in the T cell
            mediated immune control of glioblastoma
  JOURNAL   Acta Neuropathol Commun 11 (1), 75 (2023)
   PUBMED   37158962
  REMARK    GeneRIF: TSPO acts as an immune resistance gene involved in the T
            cell mediated immune control of glioblastoma. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 836)
  AUTHORS   Thejer BM, Infantino V, Santarsiero A, Pappalardo I, Abatematteo FS,
            Teakel S, Van Oosterum A, Mach RH, Denora N, Lee BC, Resta N,
            Bagnulo R, Niso M, Contino M, Montsch B, Heffeter P, Abate C and
            Cahill MA.
  TITLE     Sigma-2 Receptor Ligand Binding Modulates Association between TSPO
            and TMEM97
  JOURNAL   Int J Mol Sci 24 (7), 6381 (2023)
   PUBMED   37047353
  REMARK    GeneRIF: Sigma-2 Receptor Ligand Binding Modulates Association
            between TSPO and TMEM97. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 836)
  AUTHORS   Bader S, Wurfel T, Jahner T, Nothdurfter C, Rupprecht R, Milenkovic
            VM and Wetzel CH.
  TITLE     Impact of Translocator Protein 18 kDa (TSPO) Deficiency on
            Mitochondrial Function and the Inflammatory State of Human C20
            Microglia Cells
  JOURNAL   Cells 12 (6), 954 (2023)
   PUBMED   36980295
  REMARK    GeneRIF: Impact of Translocator Protein 18 kDa (TSPO) Deficiency on
            Mitochondrial Function and the Inflammatory State of Human C20
            Microglia Cells. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 836)
  AUTHORS   Conti E, Grana D, Angiulli F, Karantzoulis A, Villa C, Combi R,
            Appollonio I, Ferrarese C and Tremolizzo L.
  CONSRTM   ImmunAD-Brianza Network
  TITLE     TSPO Modulates Oligomeric Amyloid-beta-Induced Monocyte Chemotaxis:
            Relevance for Neuroinflammation in Alzheimer's Disease
  JOURNAL   J Alzheimers Dis 95 (2), 549-559 (2023)
   PUBMED   37574731
  REMARK    GeneRIF: TSPO Modulates Oligomeric Amyloid-beta-Induced Monocyte
            Chemotaxis: Relevance for Neuroinflammation in Alzheimer's Disease.
REFERENCE   6  (bases 1 to 836)
  AUTHORS   Yakovlev AG, Ruffo M, Jurka J and Krueger KE.
  TITLE     Comparison of repetitive elements in the third intron of human and
            rodent mitochondrial benzodiazepine receptor-encoding genes
  JOURNAL   Gene 155 (2), 201-205 (1995)
   PUBMED   7721091
REFERENCE   7  (bases 1 to 836)
  AUTHORS   Chang YJ, McCabe RT, Rennert H, Budarf ML, Sayegh R, Emanuel BS,
            Skolnick P and Strauss JF 3rd.
  TITLE     The human 'peripheral-type' benzodiazepine receptor: regional
            mapping of the gene and characterization of the receptor expressed
            from cDNA
  JOURNAL   DNA Cell Biol 11 (6), 471-480 (1992)
   PUBMED   1326278
REFERENCE   8  (bases 1 to 836)
  AUTHORS   Riond J, Mattei MG, Kaghad M, Dumont X, Guillemot JC, Le Fur G,
            Caput D and Ferrara P.
  TITLE     Molecular cloning and chromosomal localization of a human
            peripheral-type benzodiazepine receptor
  JOURNAL   Eur J Biochem 195 (2), 305-311 (1991)
   PUBMED   1847678
REFERENCE   9  (bases 1 to 836)
  AUTHORS   Awad M and Gavish M.
  TITLE     Peripheral-type benzodiazepine receptors in human cerebral cortex,
            kidney, and colon
  JOURNAL   Life Sci 49 (16), 1155-1161 (1991)
   PUBMED   1654492
REFERENCE   10  (bases 1 to 836)
  AUTHORS   Sieghart,W., Eichinger,A., Riederer,P. and Jellinger,K.
  TITLE     Comparison of benzodiazepine receptor binding in membranes from
            human or rat brain
  JOURNAL   Neuropharmacology 24 (8), 751-759 (1985)
   PUBMED   3018615
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.69304.1,
            SRR1163658.202768.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000337554.8/ ENSP00000338004.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP420304.1, AF075589.1 and
            BC001110.2.
            On Nov 22, 2018 this sequence version replaced NM_000714.5.
            Summary: Present mainly in the mitochondrial compartment of
            peripheral tissues, the protein encoded by this gene interacts with
            some benzodiazepines and has different affinities than its
            endogenous counterpart. The protein is a key factor in the flow of
            cholesterol into mitochondria to permit the initiation of steroid
            hormone synthesis. Alternatively spliced transcript variants have
            been reported; one of the variants lacks an internal exon and is
            considered non-coding, and the other variants encode the same
            protein. [provided by RefSeq, Feb 2012].
            Transcript Variant: This variant (PBR) consists of four exons and
            encodes the protein PBR.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..836
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..836
                     /gene="TSPO"
                     /gene_synonym="BPBS; BZRP; DBI; IBP; MBR; mDRC; PBR; PBS;
                     pk18; PKBS; PTBR; TSPO1"
                     /note="translocator protein"
                     /db_xref="GeneID:706"
                     /db_xref="HGNC:HGNC:1158"
                     /db_xref="MIM:109610"
     misc_feature    55..57
                     /gene="TSPO"
                     /gene_synonym="BPBS; BZRP; DBI; IBP; MBR; mDRC; PBR; PBS;
                     pk18; PKBS; PTBR; TSPO1"
                     /note="upstream in-frame stop codon"
     CDS             76..585
                     /gene="TSPO"
                     /gene_synonym="BPBS; BZRP; DBI; IBP; MBR; mDRC; PBR; PBS;
                     pk18; PKBS; PTBR; TSPO1"
                     /note="mitochondrial benzodiazepine receptor;
                     peripheral-type benzodiazepine receptor; benzodiazepine
                     peripheral binding site"
                     /codon_start=1
                     /product="translocator protein"
                     /protein_id="NP_000705.2"
                     /db_xref="CCDS:CCDS33661.1"
                     /db_xref="GeneID:706"
                     /db_xref="HGNC:HGNC:1158"
                     /db_xref="MIM:109610"
                     /translation="MAPPWVPAMGFTLAPSLGCFVGSRFVHGEGLRWYAGLQKPSWHPP
                     HWVLGPVWGTLYSAMGYGSYLVWKELGGFTEKAVVPLGLYTGQLALNWAWPPIFFGARQ
                     MGWALVDLLLVSGAAAATTVAWYQVSPLAARLLYPYLAWLAFTTTLNYCVWRDNHGWRG
                     GRRLPE"
     misc_feature    91..153
                     /gene="TSPO"
                     /gene_synonym="BPBS; BZRP; DBI; IBP; MBR; mDRC; PBR; PBS;
                     pk18; PKBS; PTBR; TSPO1"
                     /note="propagated from UniProtKB/Swiss-Prot (P30536.3);
                     transmembrane region"
     misc_feature    214..276
                     /gene="TSPO"
                     /gene_synonym="BPBS; BZRP; DBI; IBP; MBR; mDRC; PBR; PBS;
                     pk18; PKBS; PTBR; TSPO1"
                     /note="propagated from UniProtKB/Swiss-Prot (P30536.3);
                     transmembrane region"
     misc_feature    313..375
                     /gene="TSPO"
                     /gene_synonym="BPBS; BZRP; DBI; IBP; MBR; mDRC; PBR; PBS;
                     pk18; PKBS; PTBR; TSPO1"
                     /note="propagated from UniProtKB/Swiss-Prot (P30536.3);
                     transmembrane region"
     misc_feature    391..453
                     /gene="TSPO"
                     /gene_synonym="BPBS; BZRP; DBI; IBP; MBR; mDRC; PBR; PBS;
                     pk18; PKBS; PTBR; TSPO1"
                     /note="propagated from UniProtKB/Swiss-Prot (P30536.3);
                     transmembrane region"
     misc_feature    478..540
                     /gene="TSPO"
                     /gene_synonym="BPBS; BZRP; DBI; IBP; MBR; mDRC; PBR; PBS;
                     pk18; PKBS; PTBR; TSPO1"
                     /note="propagated from UniProtKB/Swiss-Prot (P30536.3);
                     transmembrane region"
     regulatory      814..819
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSPO"
                     /gene_synonym="BPBS; BZRP; DBI; IBP; MBR; mDRC; PBR; PBS;
                     pk18; PKBS; PTBR; TSPO1"
                     /note="hexamer: AATAAA"
     polyA_site      836
                     /gene="TSPO"
                     /gene_synonym="BPBS; BZRP; DBI; IBP; MBR; mDRC; PBR; PBS;
                     pk18; PKBS; PTBR; TSPO1"
                     /note="major polyA site"
ORIGIN
        1 aactcctgcc aggcagtgcc cttcccggag cgtgccctcg ccgctgagct cccctgaaca
       61 gcagctgcag cagccatggc cccgccctgg gtgcccgcca tgggcttcac gctggcgccc
      121 agcctggggt gcttcgtggg ctcccgcttt gtccacggcg agggtctccg ctggtacgcc
      181 ggcctgcaga agccctcgtg gcacccgccc cactgggtgc tgggccctgt ctggggcacg
      241 ctctactcag ccatggggta cggctcctac ctggtctgga aagagctggg aggcttcaca
      301 gagaaggctg tggttcccct gggcctctac actgggcagc tggccctgaa ctgggcatgg
      361 ccccccatct tctttggtgc ccgacaaatg ggctgggcct tggtggatct cctgctggtc
      421 agtggggcgg cggcagccac taccgtggcc tggtaccagg tgagcccgct ggccgcccgc
      481 ctgctctacc cctacctggc ctggctggcc ttcacgacca cactcaacta ctgcgtatgg
      541 cgggacaacc atggctggcg tgggggacgg cggctgccag agtgagtgcc cggcccacca
      601 gggactgcag ctgcaccagc aggtgccatc acgcttgtga tgtggtggcc gtcacgcttt
      661 catgaccact gggcctgcta gtctgtcagg gccttggccc aggggtcagc agagcttcag
      721 aggtggcccc acctgagccc ccacccggga gcagtgtcct gtgctttctg catgcttaga
      781 gcatgttctt ggaacatgga attttataag ctgaataaag tttttgactt ccttta
//
LOCUS       NM_000715               2272 bp    mRNA    linear   PRI 13-JUL-2023
DEFINITION  Homo sapiens complement component 4 binding protein alpha (C4BPA),
            mRNA.
ACCESSION   NM_000715
VERSION     NM_000715.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2272)
  AUTHORS   Beirag N, Varghese PM, Neto MM, Al Aiyan A, Khan HA, Qablan M,
            Shamji MH, Sim RB, Temperton N and Kishore U.
  TITLE     Complement Activation-Independent Attenuation of SARS-CoV-2
            Infection by C1q and C4b-Binding Protein
  JOURNAL   Viruses 15 (6), 1269 (2023)
   PUBMED   37376569
  REMARK    GeneRIF: Complement Activation-Independent Attenuation of SARS-CoV-2
            Infection by C1q and C4b-Binding Protein. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2272)
  AUTHORS   Wang Y, Ma Y, Yang C, Huang X, Yang K, Lan F, Fu J, Song Z, Tian A,
            Feng Y, Tu T, Li H, Hong T, Wang Y and Zhang H.
  TITLE     Potential biomarkers of spinal dural arteriovenous fistula: C4BPA
            and C1QA
  JOURNAL   J Neuroinflammation 19 (1), 165 (2022)
   PUBMED   35733178
  REMARK    GeneRIF: Potential biomarkers of spinal dural arteriovenous fistula:
            C4BPA and C1QA. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2272)
  AUTHORS   Serrano I, Luque A, Mitjavila F, Blom AM, Rodriguez de Cordoba S,
            Vega MC, Torras J and Aran JM.
  TITLE     The Hidden Side of Complement Regulator C4BP: Dissection and
            Evaluation of Its Immunomodulatory Activity
  JOURNAL   Front Immunol 13, 883743 (2022)
   PUBMED   35547734
  REMARK    GeneRIF: The Hidden Side of Complement Regulator C4BP: Dissection
            and Evaluation of Its Immunomodulatory Activity. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 2272)
  AUTHORS   Sasaki K, Takano S, Tomizawa S, Miyahara Y, Furukawa K, Takayashiki
            T, Kuboki S, Takada M and Ohtsuka M.
  TITLE     C4b-binding protein alpha-chain enhances antitumor immunity by
            facilitating the accumulation of tumor-infiltrating lymphocytes in
            the tumor microenvironment in pancreatic cancer
  JOURNAL   J Exp Clin Cancer Res 40 (1), 212 (2021)
   PUBMED   34167573
  REMARK    GeneRIF: C4b-binding protein alpha-chain enhances antitumor immunity
            by facilitating the accumulation of tumor-infiltrating lymphocytes
            in the tumor microenvironment in pancreatic cancer. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 2272)
  AUTHORS   Mashhadiabbas F, Fayazi-Boroujeni M, Alizadeh A, Namdari M and
            Mirzaei SA.
  TITLE     Immunoexpression of C4 Binding Protein in Oral Leukoplakia and Oral
            Squamous Cell Carcinoma
  JOURNAL   Iran J Immunol 18 (2), 95-102 (2021)
   PUBMED   34190690
  REMARK    GeneRIF: Immunoexpression of C4 Binding Protein in Oral Leukoplakia
            and Oral Squamous Cell Carcinoma.
REFERENCE   6  (bases 1 to 2272)
  AUTHORS   Dahlback,B.
  TITLE     Protein S and C4b-binding protein: components involved in the
            regulation of the protein C anticoagulant system
  JOURNAL   Thromb Haemost 66 (1), 49-61 (1991)
   PUBMED   1833851
  REMARK    Review article
REFERENCE   7  (bases 1 to 2272)
  AUTHORS   Aso T, Okamura S, Matsuguchi T, Sakamoto N, Sata T and Niho Y.
  TITLE     Genomic organization of the alpha chain of the human C4b-binding
            protein gene
  JOURNAL   Biochem Biophys Res Commun 174 (1), 222-227 (1991)
   PUBMED   1989602
REFERENCE   8  (bases 1 to 2272)
  AUTHORS   Andersson A, Dahlback B, Hanson C, Hillarp A, Levan G, Szpirer J and
            Szpirer C.
  TITLE     Genes for C4b-binding protein alpha- and beta-chains (C4BPA and
            C4BPB) are located on chromosome 1, band 1q32, in humans and on
            chromosome 13 in rats
  JOURNAL   Somat Cell Mol Genet 16 (5), 493-500 (1990)
   PUBMED   2237642
REFERENCE   9  (bases 1 to 2272)
  AUTHORS   Pardo-Manuel F, Rey-Campos J, Hillarp A, Dahlback B and Rodriguez de
            Cordoba S.
  TITLE     Human genes for the alpha and beta chains of complement C4b-binding
            protein are closely linked in a head-to-tail arrangement
  JOURNAL   Proc Natl Acad Sci U S A 87 (12), 4529-4532 (1990)
   PUBMED   2352933
REFERENCE   10  (bases 1 to 2272)
  AUTHORS   Matsuguchi T, Okamura S, Aso T, Sata T and Niho Y.
  TITLE     Molecular cloning of the cDNA coding for proline-rich protein (PRP):
            identity of PRP as C4b-binding protein
  JOURNAL   Biochem Biophys Res Commun 165 (1), 138-144 (1989)
   PUBMED   2590215
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.108922.1,
            SRR5189658.219109.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367070.8/ ENSP00000356037.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL445493.8, BC022312.1 and
            BQ019292.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000715.3.
            Summary: This gene encodes a member of a superfamily of proteins
            composed predominantly of tandemly arrayed short consensus repeats
            of approximately 60 amino acids. Along with a single, unique
            beta-chain, seven identical alpha-chains encoded by this gene
            assemble into the predominant isoform of C4b-binding protein, a
            multimeric protein that controls activation of the complement
            cascade through the classical pathway. The genes encoding both
            alpha and beta chains are located adjacent to each other on human
            chromosome 1 in the regulator of complement activation gene
            cluster. Two pseudogenes of this gene are also found in the
            cluster. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2272
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.2"
     gene            1..2272
                     /gene="C4BPA"
                     /gene_synonym="C4BP; PRP"
                     /note="complement component 4 binding protein alpha"
                     /db_xref="GeneID:722"
                     /db_xref="HGNC:HGNC:1325"
                     /db_xref="MIM:120830"
     misc_feature    167..169
                     /gene="C4BPA"
                     /gene_synonym="C4BP; PRP"
                     /note="upstream in-frame stop codon"
     CDS             224..2017
                     /gene="C4BPA"
                     /gene_synonym="C4BP; PRP"
                     /note="proline-rich protein; C4b-binding protein alpha
                     chain"
                     /codon_start=1
                     /product="C4b-binding protein alpha chain precursor"
                     /protein_id="NP_000706.1"
                     /db_xref="CCDS:CCDS1477.1"
                     /db_xref="GeneID:722"
                     /db_xref="HGNC:HGNC:1325"
                     /db_xref="MIM:120830"
                     /translation="MHPPKTPSGALHRKRKMAAWPFSRLWKVSDPILFQMTLIAALLPA
                     VLGNCGPPPTLSFAAPMDITLTETRFKTGTTLKYTCLPGYVRSHSTQTLTCNSDGEWVY
                     NTFCIYKRCRHPGELRNGQVEIKTDLSFGSQIEFSCSEGFFLIGSTTSRCEVQDRGVGW
                     SHPLPQCEIVKCKPPPDIRNGRHSGEENFYAYGFSVTYSCDPRFSLLGHASISCTVENE
                     TIGVWRPSPPTCEKITCRKPDVSHGEMVSGFGPIYNYKDTIVFKCQKGFVLRGSSVIHC
                     DADSKWNPSPPACEPNSCINLPDIPHASWETYPRPTKEDVYVVGTVLRYRCHPGYKPTT
                     DEPTTVICQKNLRWTPYQGCEALCCPEPKLNNGEITQHRKSRPANHCVYFYGDEISFSC
                     HETSRFSAICQGDGTWSPRTPSCGDICNFPPKIAHGHYKQSSSYSFFKEEIIYECDKGY
                     ILVGQAKLSCSYSHWSAPAPQCKALCRKPELVNGRLSVDKDQYVEPENVTIQCDSGYGV
                     VGPQSITCSGNRTWYPEVPKCEWETPEGCEQVLTGKRLMQCLPNPEDVKMALEVYKLSL
                     EIEQLELQRDSARQSTLDKEL"
     sig_peptide     224..367
                     /gene="C4BPA"
                     /gene_synonym="C4BP; PRP"
     mat_peptide     368..2014
                     /gene="C4BPA"
                     /gene_synonym="C4BP; PRP"
                     /product="C4b-binding protein alpha chain"
     misc_feature    884..886
                     /gene="C4BPA"
                     /gene_synonym="C4BP; PRP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:3840370;
                     propagated from UniProtKB/Swiss-Prot (P04003.2);
                     glycosylation site"
     misc_feature    1739..1741
                     /gene="C4BPA"
                     /gene_synonym="C4BP; PRP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:3840370; propagated from
                     UniProtKB/Swiss-Prot (P04003.2); glycosylation site"
     misc_feature    1805..1807
                     /gene="C4BPA"
                     /gene_synonym="C4BP; PRP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:3840370; propagated from
                     UniProtKB/Swiss-Prot (P04003.2); glycosylation site"
     regulatory      2247..2252
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C4BPA"
                     /gene_synonym="C4BP; PRP"
                     /note="hexamer: ATTAAA"
     polyA_site      2272
                     /gene="C4BPA"
                     /gene_synonym="C4BP; PRP"
                     /note="major polyA site"
ORIGIN
        1 aaccgtcctt gaccagccaa ccacatggct gaaattcagg gactctttgg tggagcaatt
       61 accagtcaac ttcagggtat tatgataaac tctgatctgg ggaggaacca ggactacata
      121 gatcaaggca gttttcttct ttgagaaact atcccagata tcatcataga gtcttctgct
      181 cttcctcaac taccaaagaa aaacatcagc gaagcagcag gccatgcacc ccccaaaaac
      241 tccatctggg gctcttcata gaaaaaggaa aatggcagcc tggcccttct ccaggctgtg
      301 gaaagtctct gatccaattc tcttccaaat gaccttgatc gctgctctgt tgcctgctgt
      361 tcttggcaat tgtggtcctc cacccacttt atcatttgct gccccgatgg atattacgtt
      421 gactgagaca cgcttcaaaa ctggaactac tctgaaatac acctgcctcc ctggctacgt
      481 cagatcccat tcaactcaga cgcttacctg taattctgat ggcgaatggg tgtataacac
      541 cttctgtatc tacaaacgat gcagacaccc aggagagtta cgtaatgggc aagtagagat
      601 taagacagat ttatcttttg gatcacaaat agaattcagc tgttcagaag gatttttctt
      661 aattggctca accactagtc gttgtgaagt ccaagataga ggagttggct ggagtcatcc
      721 tctcccacaa tgtgaaattg tcaagtgtaa gcctcctcca gacatcagga atggaaggca
      781 cagcggtgaa gaaaatttct acgcatacgg cttttctgtc acctacagct gtgacccccg
      841 cttctcactc ttgggccatg cctccatttc ttgcactgtg gagaatgaaa caataggtgt
      901 ttggagacca agccctccta cctgtgaaaa aatcacctgt cgcaagccag atgtttcaca
      961 tggggaaatg gtctctggat ttggacccat ctataattac aaagacacta ttgtgtttaa
     1021 gtgccaaaaa ggttttgttc tcagaggcag cagtgtaatt cattgtgatg ctgatagcaa
     1081 atggaatcct tctcctcctg cttgtgagcc caatagttgt attaatttac cagacattcc
     1141 acatgcttcc tgggaaacat atcctaggcc gacaaaagag gatgtgtatg ttgttgggac
     1201 tgtgttaagg taccgctgtc atcctggcta caaacccact acagatgagc ctacgactgt
     1261 gatttgtcag aaaaatttga gatggacccc ataccaagga tgtgaggcgt tatgttgccc
     1321 tgaaccaaag ctaaataatg gtgaaatcac tcaacacagg aaaagtcgtc ctgccaatca
     1381 ctgtgtttat ttctatggag atgagatttc attttcatgt catgagacca gtaggttttc
     1441 agctatatgc caaggagatg gcacgtggag tccccgaaca ccatcatgtg gagacatttg
     1501 caattttcct cctaaaattg cccatgggca ttataaacaa tctagttcat acagcttttt
     1561 caaagaagag attatatatg aatgtgataa aggctacatt ctggtcggac aggcgaaact
     1621 ctcctgcagt tattcacact ggtcagctcc agcccctcaa tgtaaagctc tgtgtcggaa
     1681 accagaatta gtgaatggaa ggttgtctgt ggataaggat cagtatgttg agcctgaaaa
     1741 tgtcaccatc caatgtgatt ctggctatgg tgtggttggt ccccaaagta tcacttgctc
     1801 tgggaacaga acctggtacc cagaggtgcc caagtgtgag tgggagaccc ccgaaggctg
     1861 tgaacaagtg ctcacaggca aaagactcat gcagtgtctc ccaaacccag aggatgtgaa
     1921 aatggccctg gaggtatata agctgtctct ggaaattgaa caactggaac tacagagaga
     1981 cagcgcaaga caatccactt tggataaaga actataattt ttctcaaaag aaggaggaaa
     2041 aggtgtcttg ctggcttgcc tcttgcaatt caatacagat cagtttagca aatctactgt
     2101 caatttggca gtgatattca tcataataaa tatctagaaa tgataatttg ctaaagttta
     2161 gtgctttgag attgtgaaat tattaatcat cctctgtgtg gctcatgttt ttgcttttca
     2221 acacacaaag cacaaatttt ttttcgatta aaaatgtatg tataaaaaac ta
//
LOCUS       NM_000717               1123 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens carbonic anhydrase 4 (CA4), transcript variant 1, mRNA.
ACCESSION   NM_000717
VERSION     NM_000717.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1123)
  AUTHORS   Xu B, Lou Y, Xu X, Li X, Tian X, Yu Z and Chen X.
  TITLE     Carbonic Anhydrase 4 Serves as A Novel Prognostic Biomarker and
            Therapeutic Target for Non-Small Cell Lung Cancer: A Study Based on
            TCGA Samples
  JOURNAL   Comb Chem High Throughput Screen 26 (14), 2527-2540 (2023)
   PUBMED   36944625
  REMARK    GeneRIF: Carbonic Anhydrase 4 Serves as A Novel Prognostic Biomarker
            and Therapeutic Target for Non-Small Cell Lung Cancer: A Study Based
            on TCGA Samples.
REFERENCE   2  (bases 1 to 1123)
  AUTHORS   Nava VE, Khosla R, Shin S, Mordini FE and Bandyopadhyay BC.
  TITLE     Enhanced carbonic anhydrase expression with calcification and
            fibrosis in bronchial cartilage during COPD
  JOURNAL   Acta Histochem 124 (1), 151834 (2022)
   PUBMED   34954529
  REMARK    GeneRIF: Enhanced carbonic anhydrase expression with calcification
            and fibrosis in bronchial cartilage during COPD.
REFERENCE   3  (bases 1 to 1123)
  AUTHORS   Liu Z, Bai Y, Xie F, Miao F and Du F.
  TITLE     Comprehensive Analysis for Identifying Diagnostic and Prognostic
            Biomarkers in Colon Adenocarcinoma
  JOURNAL   DNA Cell Biol 39 (4), 599-614 (2020)
   PUBMED   32031891
  REMARK    GeneRIF: carbonic anhydrase 1 (CA1) and CA4 were identified as
            potential biomarkers of Colon adenocarcinoma due to their predictive
            roles in diagnosis and prognosis, and the results were further
            confirmed by a series of analyses.
REFERENCE   4  (bases 1 to 1123)
  AUTHORS   Hatipoglu O and Saydam F.
  TITLE     Effects of the carbonic anhydrase VI gene polymorphisms on dental
            caries: A meta-analysis
  JOURNAL   Dent Med Probl 56 (4), 395-400 (2019)
   PUBMED   31895503
  REMARK    GeneRIF: highest susceptibility effect was noticed in the rs2274328
            of carbonic anhydrase VI (AA vs CC) model (d = 0.18; 95% CI
            (confidence interval): -1.77, 2.13), but this effect was not
            significant [meta-analysis]
REFERENCE   5  (bases 1 to 1123)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
REFERENCE   6  (bases 1 to 1123)
  AUTHORS   Okuyama T, Sato S, Zhu XL, Waheed A and Sly WS.
  TITLE     Human carbonic anhydrase IV: cDNA cloning, sequence comparison, and
            expression in COS cell membranes
  JOURNAL   Proc Natl Acad Sci U S A 89 (4), 1315-1319 (1992)
   PUBMED   1311094
REFERENCE   7  (bases 1 to 1123)
  AUTHORS   Hageman GS, Zhu XL, Waheed A and Sly WS.
  TITLE     Localization of carbonic anhydrase IV in a specific capillary bed of
            the human eye
  JOURNAL   Proc Natl Acad Sci U S A 88 (7), 2716-2720 (1991)
   PUBMED   1901414
REFERENCE   8  (bases 1 to 1123)
  AUTHORS   Carter ND, Fryer A, Grant AG, Hume R, Strange RG and Wistrand PJ.
  TITLE     Membrane specific carbonic anhydrase (CAIV) expression in human
            tissues
  JOURNAL   Biochim Biophys Acta 1026 (1), 113-116 (1990)
   PUBMED   2116168
REFERENCE   9  (bases 1 to 1123)
  AUTHORS   Zhu XL and Sly WS.
  TITLE     Carbonic anhydrase IV from human lung. Purification,
            characterization, and comparison with membrane carbonic anhydrase
            from human kidney
  JOURNAL   J Biol Chem 265 (15), 8795-8801 (1990)
   PUBMED   2111324
REFERENCE   10  (bases 1 to 1123)
  AUTHORS   Whitney,P.L. and Briggle,T.V.
  TITLE     Membrane-associated carbonic anhydrase purified from bovine lung
  JOURNAL   J Biol Chem 257 (20), 12056-12059 (1982)
   PUBMED   6811592
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.86399.1,
            SRR3476690.92049.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000300900.9/ ENSP00000300900.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC057792.1, BC074768.2 and
            AI990988.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000717.4.
            Summary: Carbonic anhydrases (CAs) are a large family of zinc
            metalloenzymes that catalyze the reversible hydration of carbon
            dioxide. They participate in a variety of biological processes,
            including respiration, calcification, acid-base balance, bone
            resorption, and the formation of aqueous humor, cerebrospinal
            fluid, saliva, and gastric acid. They show extensive diversity in
            tissue distribution and in their subcellular localization. This
            gene encodes a glycosylphosphatidyl-inositol-anchored membrane
            isozyme expressed on the luminal surfaces of pulmonary (and certain
            other) capillaries and proximal renal tubules. Its exact function
            is not known; however, it may have a role in inherited renal
            abnormalities of bicarbonate transport. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1123
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.1"
     gene            1..1123
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /note="carbonic anhydrase 4"
                     /db_xref="GeneID:762"
                     /db_xref="HGNC:HGNC:1375"
                     /db_xref="MIM:114760"
     CDS             63..1001
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /EC_number="4.2.1.1"
                     /note="carbonic dehydratase IV; CA-IV; carbonate
                     dehydratase IV; carbonic anhydrase IV"
                     /codon_start=1
                     /product="carbonic anhydrase 4 preproprotein"
                     /protein_id="NP_000708.1"
                     /db_xref="CCDS:CCDS11624.1"
                     /db_xref="GeneID:762"
                     /db_xref="HGNC:HGNC:1375"
                     /db_xref="MIM:114760"
                     /translation="MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGN
                     CQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQTWTVQNNGHSVMMLLENKASISGGG
                     LPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPEDEI
                     AVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLG
                     SLTTPTCDEKVVWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTV
                     IKSGAPGRPLPWALPALLGPMLACLLAGFLR"
     sig_peptide     63..116
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /note="/evidence=ECO:0000269|PubMed:2111324; propagated
                     from UniProtKB/Swiss-Prot (P22748.2)"
     mat_peptide     117..914
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /product="Carbonic anhydrase 4. /id=PRO_0000004226"
                     /note="propagated from UniProtKB/Swiss-Prot (P22748.2)"
     regulatory      1095..1100
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /note="hexamer: ATTAAA"
     polyA_site      1123
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /note="major polyA site"
ORIGIN
        1 acccgcggcg gcctcctcgg tgcgcgaccc ccggctcaga ggactctttg ctgtcccgca
       61 agatgcggat gctgctggcg ctcctggccc tctccgcggc gcggccatcg gccagtgcag
      121 agtcacactg gtgctacgag gttcaagccg agtcctccaa ctacccctgc ttggtgccag
      181 tcaagtgggg tggaaactgc cagaaggacc gccagtcccc catcaacatc gtcaccacca
      241 aggcaaaggt ggacaaaaaa ctgggacgct tcttcttctc tggctacgat aagaagcaaa
      301 cgtggactgt ccaaaataac gggcactcag tgatgatgtt gctggagaac aaggccagca
      361 tttctggagg aggactgcct gccccatacc aggccaaaca gttgcacctg cactggtccg
      421 acttgccata taagggctcg gagcacagcc tcgatgggga gcactttgcc atggagatgc
      481 acatagtaca tgagaaagag aaggggacat cgaggaatgt gaaagaggcc caggaccctg
      541 aagacgaaat tgcggtgctg gcctttctgg tggaggctgg aacccaggtg aacgagggct
      601 tccagccact ggtggaggca ctgtctaata tccccaaacc tgagatgagc actacgatgg
      661 cagagagcag cctgttggac ctgctcccca aggaggagaa actgaggcac tacttccgct
      721 acctgggctc actcaccaca ccgacctgcg atgagaaggt cgtctggact gtgttccggg
      781 agcccattca gcttcacaga gaacagatcc tggcattctc tcagaagctg tactacgaca
      841 aggaacagac agtgagcatg aaggacaatg tcaggcccct gcagcagctg gggcagcgca
      901 cggtgataaa gtccggggcc ccgggtcggc cgctgccctg ggccctgcct gccctgctgg
      961 gccccatgct ggcctgcctg ctggccggct tcctgcgatg atggctcact tctgcacgca
     1021 gcctctctgt tgcctcagct ctccaagttc caggcttccg gtccttagcc ttcccaggtg
     1081 ggactttagg catgattaaa atatggacat atttttggag aaa
//
LOCUS       NM_000718               9792 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens calcium voltage-gated channel subunit alpha1 B
            (CACNA1B), transcript variant 1, mRNA.
ACCESSION   NM_000718
VERSION     NM_000718.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9792)
  AUTHORS   Xue Y, Li M, Hu J, Song Y, Guo W, Miao C, Ge D, Hou Y, Wang X, Huang
            X, Liu T, Zhang X and Huang Q.
  TITLE     Cav2.2-NFAT2-USP43 axis promotes invadopodia formation and breast
            cancer metastasis through cortactin stabilization
  JOURNAL   Cell Death Dis 13 (9), 812 (2022)
   PUBMED   36137995
  REMARK    GeneRIF: Cav2.2-NFAT2-USP43 axis promotes invadopodia formation and
            breast cancer metastasis through cortactin stabilization.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 9792)
  AUTHORS   Li G, Roy B, Huang X, Mu Y, Yuan J, Xia Y, Song Y and Peng Z.
  TITLE     High expression of N-type calcium channel indicates a favorable
            prognosis in gliomas
  JOURNAL   Medicine (Baltimore) 101 (26), e29782 (2022)
   PUBMED   35777045
  REMARK    GeneRIF: High expression of N-type calcium channel indicates a
            favorable prognosis in gliomas. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 9792)
  AUTHORS   Dong Y, Gao Y, Xu S, Wang Y, Yu Z, Li Y, Li B, Yuan T, Yang B, Zhang
            XC, Jiang D, Huang Z and Zhao Y.
  TITLE     Closed-state inactivation and pore-blocker modulation mechanisms of
            human CaV2.2
  JOURNAL   Cell Rep 37 (5), 109931 (2021)
   PUBMED   34731621
  REMARK    GeneRIF: Closed-state inactivation and pore-blocker modulation
            mechanisms of human CaV2.2.
REFERENCE   4  (bases 1 to 9792)
  AUTHORS   Gao S, Yao X and Yan N.
  TITLE     Structure of human Cav2.2 channel blocked by the painkiller
            ziconotide
  JOURNAL   Nature 596 (7870), 143-147 (2021)
   PUBMED   34234349
  REMARK    GeneRIF: Structure of human Cav2.2 channel blocked by the painkiller
            ziconotide.
REFERENCE   5  (bases 1 to 9792)
  AUTHORS   Silveirinha VC, Lin H, Tanifuji S, Mochida S, Cottrell GS, Cimarosti
            H and Stephens GJ.
  TITLE     CaV2.2 (N-type) voltage-gated calcium channels are activated by
            SUMOylation pathways
  JOURNAL   Cell Calcium 93, 102326 (2021)
   PUBMED   33360835
  REMARK    GeneRIF: CaV2.2 (N-type) voltage-gated calcium channels are
            activated by SUMOylation pathways.
REFERENCE   6  (bases 1 to 9792)
  AUTHORS   Kim DS, Jung HH, Park SH and Chin H.
  TITLE     Isolation and characterization of the 5'-upstream region of the
            human N-type calcium channel alpha1B subunit gene. Chromosomal
            localization and promoter analysis
  JOURNAL   J Biol Chem 272 (8), 5098-5104 (1997)
   PUBMED   9030575
REFERENCE   7  (bases 1 to 9792)
  AUTHORS   Day NC, Shaw PJ, McCormack AL, Craig PJ, Smith W, Beattie R,
            Williams TL, Ellis SB, Ince PG, Harpold MM, Lodge D and Volsen SG.
  TITLE     Distribution of alpha 1A, alpha 1B and alpha 1E voltage-dependent
            calcium channel subunits in the human hippocampus and
            parahippocampal gyrus
  JOURNAL   Neuroscience 71 (4), 1013-1024 (1996)
   PUBMED   8684604
REFERENCE   8  (bases 1 to 9792)
  AUTHORS   Volsen SG, Day NC, McCormack AL, Smith W, Craig PJ, Beattie R, Ince
            PG, Shaw PJ, Ellis SB, Gillespie A et al.
  TITLE     The expression of neuronal voltage-dependent calcium channels in
            human cerebellum
  JOURNAL   Brain Res Mol Brain Res 34 (2), 271-282 (1995)
   PUBMED   8750830
REFERENCE   9  (bases 1 to 9792)
  AUTHORS   Diriong S, Lory P, Williams ME, Ellis SB, Harpold MM and Taviaux S.
  TITLE     Chromosomal localization of the human genes for alpha 1A, alpha 1B,
            and alpha 1E voltage-dependent Ca2+ channel subunits
  JOURNAL   Genomics 30 (3), 605-609 (1995)
   PUBMED   8825650
REFERENCE   10  (bases 1 to 9792)
  AUTHORS   Williams ME, Brust PF, Feldman DH, Patthi S, Simerson S, Maroufi A,
            McCue AF, Velicelebi G, Ellis SB and Harpold MM.
  TITLE     Structure and functional expression of an omega-conotoxin-sensitive
            human N-type calcium channel
  JOURNAL   Science 257 (5068), 389-395 (1992)
   PUBMED   1321501
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M94172.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148093,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371372.6/ ENSP00000360423.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL772363.15, M94172.1,
            AL591424.12 and BC033060.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000718.3.
            Summary: The protein encoded by this gene is the pore-forming
            subunit of an N-type voltage-dependent calcium channel, which
            controls neurotransmitter release from neurons. The encoded protein
            forms a complex with alpha-2, beta, and delta subunits to form the
            high-voltage activated channel. This channel is sensitive to
            omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to
            dihydropyridines. Two transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Aug
            2011].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..9792
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..9792
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="calcium voltage-gated channel subunit alpha1 B"
                     /db_xref="GeneID:774"
                     /db_xref="HGNC:HGNC:1389"
                     /db_xref="MIM:601012"
     CDS             153..7172
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="isoform 1 is encoded by transcript variant 1;
                     calcium channel, voltage-dependent, L type, alpha 1B
                     subunit; calcium channel, voltage-dependent, N type, alpha
                     1B subunit; voltage-gated calcium channel subunit alpha
                     Cav2.2; voltage-gated calcium channel alpha subunit Cav2.2;
                     calcium channel, L type, alpha-1 polypeptide; brain calcium
                     channel III; calcium channel alpha12.2 subunit; Cav2.2
                     voltage-gated Ca2+ channel"
                     /codon_start=1
                     /product="voltage-dependent N-type calcium channel subunit
                     alpha-1B isoform 1"
                     /protein_id="NP_000709.1"
                     /db_xref="CCDS:CCDS59522.1"
                     /db_xref="GeneID:774"
                     /db_xref="HGNC:HGNC:1389"
                     /db_xref="MIM:601012"
                     /translation="MVRFGDELGGRYGGPGGGERARGGGAGGAGGPGPGGLQPGQRVLY
                     KQSIAQRARTMALYNPIPVKQNCFTVNRSLFVFSEDNVVRKYAKRITEWPPFEYMILAT
                     IIANCIVLALEQHLPDGDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFVFHKGSYLR
                     NGWNVMDFVVVLTGILATAGTDFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMVP
                     LLQIGLLLFFAILMFAIIGLEFYMGKFHKACFPNSTDAEPVGDFPCGKEAPARLCEGDT
                     ECREYWPGPNFGITNFDNILFAILTVFQCITMEGWTDILYNTNDAAGNTWNWLYFIPLI
                     IIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYLEWIFKAEEVM
                     LAEEDRNAEEKSPLDVLKRAATKKSRNDLIHAEEGEDRFADLCAVGSPFARASLKSGKT
                     ESSSYFRRKEKMFRFFIRRMVKAQSFYWVVLCVVALNTLCVAMVHYNQPRRLTTTLYFA
                     EFVFLGLFLTEMSLKMYGLGPRSYFRSSFNCFDFGVIVGSVFEVVWAAIKPGSSFGISV
                     LRALRLLRIFKVTKYWSSLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQF
                     NFQDETPTTNFDTFPAAILTVFQILTGEDWNAVMYHGIESQGGVSKGMFSSFYFIVLTL
                     FGNYTLLNVFLAIAVDNLANAQELTKDEEEMEEAANQKLALQKAKEVAEVSPMSAANIS
                     IAARQQNSAKARSVWEQRASQLRLQNLRASCEALYSEMDPEERLRFATTRHLRPDMKTH
                     LDRPLVVELGRDGARGPVGGKARPEAAEAPEGVDPPRRHHRHRDKDKTPAAGDQDRAEA
                     PKAESGEPGAREERPRPHRSHSKEAAGPPEARSERGRGPGPEGGRRHHRRGSPEEAAER
                     EPRRHRAHRHQDPSKECAGAKGERRARHRGGPRAGPREAESGEEPARRHRARHKAQPAH
                     EAVEKETTEKEATEKEAEIVEADKEKELRNHQPREPHCDLETSGTVTVGPMHTLPSTCL
                     QKVEEQPEDADNQRNVTRMGSQPPDPNTIVHIPVMLTGPLGEATVVPSGNVDLESQAEG
                     KKEVEADDVMRSGPRPIVPYSSMFCLSPTNLLRRFCHYIVTMRYFEVVILVVIALSSIA
                     LAAEDPVRTDSPRNNALKYLDYIFTGVFTFEMVIKMIDLGLLLHPGAYFRDLWNILDFI
                     VVSGALVAFAFSGSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVLN
                     ILIVYMLFMFIFAVIAVQLFKGKFFYCTDESKELERDCRGQYLDYEKEEVEAQPRQWKK
                     YDFHYDNVLWALLTLFTVSTGEGWPMVLKHSVDATYEEQGPSPGYRMELSIFYVVYFVV
                     FPFFFVNIFVALIIITFQEQGDKVMSECSLEKNERACIDFAISAKPLTRYMPQNRQSFQ
                     YKTWTFVVSPPFEYFIMAMIALNTVVLMMKFYDAPYEYELMLKCLNIVFTSMFSMECVL
                     KIIAFGVLNYFRDAWNVFDFVTVLGSITDILVTEIAETNNFINLSFLRLFRAARLIKLL
                     RQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIALDDDTSINRHNNF
                     RTFLQALMLLFRSATGEAWHEIMLSCLSNQACDEQANATECGSDFAYFYFVSFIFLCSF
                     LMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFIRVWAEYDPAACGRISYNDMFEMLKHM
                     SPPLGLGKKCPARVAYKRLVRMNMPISNEDMTVHFTSTLMALIRTALEIKLAPAGTKQH
                     QCDAELRKEISVVWANLPQKTLDLLVPPHKPDEMTVGKVYAALMIFDFYKQNKTTRDQM
                     QQAPGGLSQMGPVSLFHPLKATLEQTQPAVLRGARVFLRQKSSTSLSNGGAIQNQESGI
                     KESVSWGTQRTQDAPHEARPPLERGHSTEIPVGRSGALAVDVQMQSITRRGPDGEPQPG
                     LESQGRAASMPRLAAETQPVTDASPMKRSISTLAQRPRGTHLCSTTPDRPPPSQASSHH
                     HHHRCHRRRDRKQRSLEKGPSLSADMDGAPSSAVGPGLPPGEGPTGCRRERERRQERGR
                     SQERRQPSSSSSEKQRFYSCDRFGGREPPKPKPSLSSHPTSPTAGQEPGPHPQGSGSVN
                     GSPLLSTSGASTPGRGGRRQLPQTPLTPRPSITYKTANSSPIHFAGAQTSLPAFSPGRL
                     SRGLSEHNALLQRDPLSQPLAPGSRIGSDPYLGQRLDSEASVHALPEDTLTFEEAVATN
                     SGRSSRTSYVSSLTSQSHPLRRVPNGYHCTLGLSSGGRARHSYHHPDQDHWC"
     misc_feature    153..263
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    216..218
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:O55017; propagated from
                     UniProtKB/Swiss-Prot (Q00975.1); methylation site"
     misc_feature    396..1229
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     Region: I"
     misc_feature    423..494
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    546..608
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    642..698
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    714..785
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    816..884
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    918..920
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:34234349,
                     ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY; propagated from
                     UniProtKB/Swiss-Prot (Q00975.1); glycosylation site"
     misc_feature    1146..1220
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    1287..1340
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     Region: Binding to the beta subunit. /evidence=ECO:0000250"
     misc_feature    1383..1385
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O55017; propagated from
                     UniProtKB/Swiss-Prot (Q00975.1); phosphorylation site"
     misc_feature    1554..2288
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     Region: II"
     misc_feature    1599..1655
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    1686..1754
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    1785..1850
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    1872..1910
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    1965..2042
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    2199..2279
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    2385..2387
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O55017; propagated from
                     UniProtKB/Swiss-Prot (Q00975.1); phosphorylation site"
     misc_feature    2394..2396
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O55017; propagated from
                     UniProtKB/Swiss-Prot (Q00975.1); phosphorylation site"
     misc_feature    2499..2501
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O55017; propagated from
                     UniProtKB/Swiss-Prot (Q00975.1); phosphorylation site"
     misc_feature    2598..3266
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3312..3380
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3357..3359
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O55017; propagated from
                     UniProtKB/Swiss-Prot (Q00975.1); phosphorylation site"
     misc_feature    3561..4409
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     Region: III"
     misc_feature    3606..3662
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    3687..3761
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    3804..3866
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    3885..3947
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    4002..4061
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    4323..4400
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    4518..5285
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     Region: IV"
     misc_feature    4566..4622
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    4647..4721
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    4752..4817
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    4839..4841
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q00975.1); glycosylation site"
     misc_feature    4842..4898
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    4956..5015
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    5175..5177
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q00975.1); glycosylation site"
     misc_feature    5202..5273
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     transmembrane region"
     misc_feature    5898..6056
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    6093..6770
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00975.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    6348..6350
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O55017; propagated from
                     UniProtKB/Swiss-Prot (Q00975.1); phosphorylation site"
     misc_feature    6822..6824
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O55017; propagated from
                     UniProtKB/Swiss-Prot (Q00975.1); phosphorylation site"
     misc_feature    6849..6851
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O55017; propagated from
                     UniProtKB/Swiss-Prot (Q00975.1); phosphorylation site"
     misc_feature    6918..6920
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O55017; propagated from
                     UniProtKB/Swiss-Prot (Q00975.1); phosphorylation site"
     regulatory      7339..7344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="hexamer: AATAAA"
     polyA_site      7358
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="major polyA site"
     regulatory      9761..9766
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
                     /note="hexamer: AATAAA"
     polyA_site      9792
                     /gene="CACNA1B"
                     /gene_synonym="BIII; CACNL1A5; CACNN; Cav2.2; DYT23;
                     NEDNEH"
ORIGIN
        1 gggtgaggcg gcggcggctg cggcggtggg gccgggcgag gtccgctgcg gtcccggcgg
       61 ctccgtggct gctccgctct gagcgcctgg cgcgccccgc gccctccctg ccggggccgc
      121 tgggccgggg atgcacgcgg ggcccgggag ccatggtccg cttcggggac gagctgggcg
      181 gccgctatgg gggccccggc ggcggagagc gggcccgggg cggcggggcc ggcggggcgg
      241 ggggcccggg tcccgggggg ctgcagcccg gccagcgggt cctctacaag caatcgatcg
      301 cgcagcgcgc gcggaccatg gcgctgtaca accccatccc ggtcaagcag aactgcttca
      361 ccgtcaaccg ctcgctcttc gtcttcagcg aggacaacgt cgtccgcaaa tacgcgaagc
      421 gcatcaccga gtggcctcca ttcgagtata tgatcctggc caccatcatc gccaactgca
      481 tcgtgctggc cctggagcag cacctccctg atggggacaa aacgcccatg tccgagcggc
      541 tggacgacac ggagccctat ttcatcggga tcttttgctt cgaggcaggg atcaaaatca
      601 tcgctctggg ctttgtcttc cacaagggct cttacctgcg gaacggctgg aacgtcatgg
      661 acttcgtggt cgtcctcaca gggatccttg ccacggctgg aactgacttc gacctgcgaa
      721 cactgagggc tgtgcgtgtg ctgaggcccc tgaagctggt gtctgggatt ccaagtttgc
      781 aggtggtgct caagtccatc atgaaggcca tggttccact cctgcagatt gggctgcttc
      841 tcttctttgc catcctcatg tttgccatca ttggcctgga gttctacatg ggcaagttcc
      901 acaaggcctg tttccccaac agcacagatg cggagcccgt gggtgacttc ccctgtggca
      961 aggaggcccc agcccggctg tgcgagggcg acactgagtg ccgggagtac tggccaggac
     1021 ccaactttgg catcaccaac tttgacaata tcctgtttgc catcttgacg gtgttccagt
     1081 gcatcaccat ggagggctgg actgacatcc tctataatac aaacgatgcg gccggcaaca
     1141 cctggaactg gctctacttc atccctctca tcatcatcgg ctccttcttc atgctcaacc
     1201 tggtgctggg cgtgctctcg ggggagtttg ccaaggagcg agagagggtg gagaaccgcc
     1261 gcgccttcct gaagctgcgc cggcagcagc agatcgagcg agagctcaac gggtacctgg
     1321 agtggatctt caaggcggag gaagtcatgc tggccgagga ggacaggaat gcagaggaga
     1381 agtccccttt ggacgtgctg aagagagcgg ccaccaagaa gagcagaaat gacctgatcc
     1441 acgcagagga gggagaggac cggtttgcag atctctgtgc tgttggatcc cccttcgccc
     1501 gcgccagcct caagagcggg aagacagaga gctcgtcata cttccggagg aaggagaaga
     1561 tgttccggtt ttttatccgg cgcatggtga aggctcagag cttctactgg gtggtgctgt
     1621 gcgtggtggc cctgaacaca ctgtgtgtgg ccatggtgca ttacaaccag ccgcggcggc
     1681 ttaccacgac cctgtatttt gcagagtttg ttttcctggg tctcttcctc acagagatgt
     1741 ccctgaagat gtatggcctg gggcccagaa gctacttccg gtcctccttc aactgcttcg
     1801 actttggggt catcgtgggg agcgtctttg aagtggtctg ggcggccatc aagccgggaa
     1861 gctcctttgg gatcagtgtg ctgcgggccc tccgcctgct gaggatcttc aaagtcacga
     1921 agtactggag ctccctgcgg aacctggtgg tgtccctgct gaactccatg aagtccatca
     1981 tcagcctgct cttcttgctc ttcctgttca ttgtggtctt cgccctgctg gggatgcagc
     2041 tgtttggggg acagttcaac ttccaggatg agactcccac aaccaacttc gacaccttcc
     2101 ctgccgccat cctcactgtc ttccagatcc tgacgggaga ggactggaat gcagtgatgt
     2161 atcacgggat cgaatcgcaa ggcggcgtca gcaaaggcat gttctcgtcc ttttacttca
     2221 ttgtcctgac actgttcgga aactacactc tgctgaatgt ctttctggcc atcgctgtgg
     2281 acaacctggc caacgcccaa gagctgacca aggatgaaga ggagatggaa gaagcagcca
     2341 atcagaagct tgctctgcaa aaggccaaag aagtggctga agtcagcccc atgtctgccg
     2401 cgaacatctc catcgccgcc aggcagcaga actcggccaa ggcgcgctcg gtgtgggagc
     2461 agcgggccag ccagctacgg ctgcagaacc tgcgggccag ctgcgaggcg ctgtacagcg
     2521 agatggaccc cgaggagcgg ctgcgcttcg ccactacgcg ccacctgcgg cccgacatga
     2581 agacgcacct ggaccggccg ctggtggtgg agctgggccg cgacggcgcg cgggggcccg
     2641 tgggaggcaa agcccgacct gaggctgcgg aggcccccga gggcgtcgac cctccgcgca
     2701 ggcaccaccg gcaccgcgac aaggacaaga cccccgcggc gggggaccag gaccgagcag
     2761 aggccccgaa ggcggagagc ggggagcccg gtgcccggga ggagcggccg cggccgcacc
     2821 gcagccacag caaggaggcc gcggggcccc cggaggcgcg gagcgagcgc ggccgaggcc
     2881 caggccccga gggcggccgg cggcaccacc ggcgcggctc cccggaggag gcggccgagc
     2941 gggagccccg acgccaccgc gcgcaccggc accaggatcc gagcaaggag tgcgccggcg
     3001 ccaagggcga gcggcgcgcg cggcaccgcg gcggcccccg agcggggccc cgggaggcgg
     3061 agagcgggga ggagccggcg cggcggcacc gggcccggca caaggcgcag cctgctcacg
     3121 aggctgtgga gaaggagacc acggagaagg aggccacgga gaaggaggct gagatagtgg
     3181 aagccgacaa ggaaaaggag ctccggaacc accagccccg ggagccacac tgtgacctgg
     3241 agaccagtgg gactgtgact gtgggtccca tgcacacact gcccagcacc tgtctccaga
     3301 aggtggagga acagccagag gatgcagaca atcagcggaa cgtcactcgc atgggcagtc
     3361 agcccccaga cccgaacact attgtacata tcccagtgat gctgacgggc cctcttgggg
     3421 aagccacggt cgttcccagt ggtaacgtgg acctggaaag ccaagcagag gggaagaagg
     3481 aggtggaagc ggatgacgtg atgaggagcg gcccccggcc tatcgtccca tacagctcca
     3541 tgttctgttt aagccccacc aacctgctcc gccgcttctg ccactacatc gtgaccatga
     3601 ggtacttcga ggtggtcatt ctcgtggtca tcgccttgag cagcatcgcc ctggctgctg
     3661 aggacccagt gcgcacagac tcgcccagga acaacgctct gaaatacctg gattacattt
     3721 tcactggtgt ctttaccttt gagatggtga taaagatgat cgacttggga ctgctgcttc
     3781 accctggagc ctatttccgg gacttgtgga acattctgga cttcattgtg gtcagtggcg
     3841 ccctggtggc gtttgctttc tcaggatcca aagggaaaga catcaatacc atcaagtctc
     3901 tgagagtcct tcgtgtcctg cggcccctca agaccatcaa acggctgccc aagctcaagg
     3961 ctgtgtttga ctgtgtggtg aactccctga agaatgtcct caacatcttg attgtctaca
     4021 tgctcttcat gttcatattt gccgtcattg cggtgcagct cttcaaaggg aagtttttct
     4081 actgcacaga tgaatccaag gagctggaga gggactgcag gggtcagtat ttggattatg
     4141 agaaggagga agtggaagct cagcccaggc agtggaagaa atacgacttt cactacgaca
     4201 atgtgctctg ggctctgctg acgctgttca cagtgtccac gggagaaggc tggcccatgg
     4261 tgctgaaaca ctccgtggat gccacctatg aggagcaggg tccaagccct gggtaccgca
     4321 tggagctgtc catcttctac gtggtctact ttgtggtctt tcccttcttc ttcgtcaaca
     4381 tctttgtggc tttgatcatc atcaccttcc aggagcaggg ggacaaggtg atgtctgaat
     4441 gcagcctgga gaagaacgag agggcttgca ttgacttcgc catcagcgcc aaacccctga
     4501 cacggtacat gccccaaaac cggcagtcgt tccagtataa gacgtggaca tttgtggtct
     4561 ccccgccctt tgaatacttc atcatggcca tgatagccct caacactgtg gtgctgatga
     4621 tgaagttcta tgatgcaccc tatgagtacg agctgatgct gaaatgcctg aacatcgtgt
     4681 tcacatccat gttctccatg gaatgcgtgc tgaagatcat cgcctttggg gtgctgaact
     4741 atttcagaga tgcctggaat gtctttgact ttgtcactgt gttgggaagt attactgata
     4801 ttttagtaac agagattgcg gaaacgaaca atttcatcaa cctcagcttc ctccgcctct
     4861 ttcgagctgc gcggctgatc aagctgctcc gccagggcta caccatccgc atcctgctgt
     4921 ggacctttgt ccagtccttc aaggccctgc cctacgtgtg tctgctcatt gccatgctgt
     4981 tcttcatcta cgccatcatc ggcatgcagg tgtttgggaa tattgccctg gatgatgaca
     5041 ccagcatcaa ccgccacaac aacttccgga cgtttttgca agccctgatg ctgctgttca
     5101 ggagcgccac gggggaggcc tggcacgaga tcatgctgtc ctgcctgagc aaccaggcct
     5161 gtgatgagca ggccaatgcc accgagtgtg gaagtgactt tgcctacttc tacttcgtct
     5221 ccttcatctt cctgtgctcc tttctgatgt tgaacctctt tgtggctgtg atcatggaca
     5281 attttgagta cctcacgcgg gactcttcca tcctaggtcc tcaccacttg gatgagttca
     5341 tccgggtctg ggctgaatac gacccggctg cgtgtgggcg catcagttac aatgacatgt
     5401 ttgagatgct gaaacacatg tccccgcctc tggggctggg gaagaaatgc cctgctcgag
     5461 ttgcttacaa gcgcctggtt cgcatgaaca tgcccatctc caacgaggac atgactgttc
     5521 acttcacgtc cacgctgatg gccctcatcc ggacggcact ggagatcaag ctggccccag
     5581 ctgggacaaa gcagcatcag tgtgacgcgg agttgaggaa ggagatttcc gttgtgtggg
     5641 ccaatctgcc ccagaagact ttggacttgc tggtaccacc ccataagcct gatgagatga
     5701 cagtggggaa ggtttatgca gctctgatga tattcgactt ctacaagcag aacaaaacca
     5761 ccagagacca gatgcagcag gctcctggag gcctctccca gatgggtcct gtgtccctgt
     5821 tccaccctct gaaggccacc ctggagcaga cacagccggc tgtgctccga ggagcccggg
     5881 ttttccttcg acagaagagt tccacctccc tcagcaatgg cggggccata caaaaccaag
     5941 agagtggcat caaagagtct gtctcctggg gcactcaaag gacccaggat gcaccccatg
     6001 aggccaggcc acccctggag cgtggccact ccacagagat ccctgtgggg cggtcaggag
     6061 cactggctgt ggacgttcag atgcagagca taacccggag gggccctgat ggggagcccc
     6121 agcctgggct ggagagccag ggtcgagcgg cctccatgcc ccgccttgcg gccgagactc
     6181 agcccgtcac agatgccagc cccatgaagc gctccatctc cacgctggcc cagcggcccc
     6241 gtgggactca tctttgcagc accaccccgg accgcccacc ccctagccag gcgtcgtcgc
     6301 accaccacca ccaccgctgc caccgccgca gggacaggaa gcagaggtcc ctggagaagg
     6361 ggcccagcct gtctgccgat atggatggcg caccaagcag tgctgtgggg ccggggctgc
     6421 ccccgggaga ggggcctaca ggctgccggc gggaacgaga gcgccggcag gagcggggcc
     6481 ggtcccagga gcggaggcag ccctcatcct cctcctcgga gaagcagcgc ttctactcct
     6541 gcgaccgctt tgggggccgt gagcccccga agcccaagcc ctccctcagc agccacccaa
     6601 cgtcgccaac agctggccag gagccgggac cccacccaca gggcagtggt tccgtgaatg
     6661 ggagcccctt gctgtcaaca tctggtgcta gcacccccgg ccgcggtggg cggaggcagc
     6721 tcccccagac gcccctgact ccccgcccca gcatcaccta caagacggcc aactcctcac
     6781 ccatccactt cgccggggct cagaccagcc tccctgcctt ctccccaggc cggctcagcc
     6841 gtgggctttc cgaacacaac gccctgctgc agagagaccc cctcagccag cccctggccc
     6901 ctggctctcg aattggctct gacccttacc tggggcagcg tctggacagt gaggcctctg
     6961 tccacgccct gcctgaggac actctcactt tcgaggaggc tgtggccacc aactcgggcc
     7021 gctcctccag gacttcctac gtgtcctccc tgacctccca gtctcaccct ctccgccgcg
     7081 tgcccaacgg ttaccactgc accctgggac tcagctcggg tggccgagca cggcacagct
     7141 accaccaccc tgaccaagac cactggtgct agctgcaccg tgaccgctca gacgcctgca
     7201 tgcagcaggc gtgtgttcca gtggatgagt tttatcatcc acacggggca gccggccctc
     7261 gggggaggcc ttgcccacct tggtgaggct cctgtggccc ctccctcccc ctcctcccct
     7321 cttttactct agacgacgaa taaagccctg ttagaggatg cggctctctc tgtccccttc
     7381 ctgtcctgcc ttcctgggtc tcgtaccaca caccagaccc taaaccgcag gctgctgtgt
     7441 gtggctgaga aggacccagg agtccaaatc ccgtgtcctg ggactcagca tccagcatgg
     7501 gtgcttggag ccgttgtgag gagctctgcg tcctgtgggg agcacccttc acgtggccgt
     7561 gcggcacaga gaagcagggc ccacctgaaa gtgcgccgag acctcgggac ggaggggatg
     7621 gggaggggga cacagtcgtg gcttgtgcag cccgccagtg tcagcgaatg ctcactcagg
     7681 caagctctgt cctccctgga caccgtcagc cccacaggaa ccgagctggg aagtgttctt
     7741 gctgtggttg tgatttttaa ttgcaacacc tctcattctt gtcacttcta tatacgtgat
     7801 gtagaaaaaa tggaaaacca gaaaaatggg gaaggaaatg ttcacataac tttaaaaaat
     7861 caaacctgtg aaagaaagat gtcagctttt tgccacgtgt ctttgtggct tatgcgagga
     7921 gactccctgt gcagccctgt ccggtccagg tggacgtaga cggcccctgg ctctgctgct
     7981 cttgaccaag tgcctgaccg ccaggccctc acacccaggc tcctgggcac tgtggtgtga
     8041 ggcgaggcct cgggatccat caccgcagga tgctgtgaaa agtactcgcg atggcagcca
     8101 ggtagcaagc ccttgccagt ggagagcact ggatgtcatg gtggcaaaca aggcagccat
     8161 ttgctgtcct cctcccacga gtggaagggg tttccaagga agccacaggg cagctgacca
     8221 cgtgcttgtg tgaggcattt tcagtctgtt ctgcatatga ttctcagggc acactctgtg
     8281 gtatgtgaaa taggtttcct tccacataca gcagaagaga ggcaaaggct ggtaggaagg
     8341 aggaagacat tggctggggg cttggatgtg gggccgtcag ggcaggaggg aggaagcccc
     8401 agctggaatg aaactcagag caagtgaccg agggaggaca cggctcctgc cactgaggcc
     8461 gggcacctga tgcccagcac tgtcctggcg ccagacacag ggagcaggca gtcaagtgag
     8521 gtctgacccc catggccacg ctcaggagag aaagaccatg ctcaggacac tgtccaaggt
     8581 gcacaagatg ctgggaggtc ccttgtttgg tgaagaaagg gagcatttag agcagttgat
     8641 ggtggtgtgt cctccgtgtt ctgaaattcc agatgatctg tgttggattc ttggcttcta
     8701 ccccatgatt ctcctcaaag aaattgtgtg tgatgtgtgt gtgtgtgtgt gtgtgtgtgt
     8761 gtctgtgtca caggagatgc agtgcctgta caggtgtgtt cagtgtgtgg atgtcattaa
     8821 cccatagggc tatgcaacaa aagacacatt taatagaagt aaaacacaca agaccgctgc
     8881 ctggtctcgg ggttcagcat gattgtgacc aaaccttttt atagaatttc cttacctgaa
     8941 ggcacaacac tctgaaactt taaagataac agagtatttt attccaatag aataaaccag
     9001 gaatctcgga ctgtgcatgt gatcactgtg ctcctgttgc aaagtagaag gatgtgtatt
     9061 ttgacactga cgttttgtct cttgttcccc agcccccagc ccatgttatc ttgggtgtcg
     9121 aatgtgtcca ttccatgcag aaccacagcc atttccccag gcagtgttgg gtcgagaatc
     9181 cacttttcta aacccacaca gcctagctgg cttgtctaga ctcttctagg cattggaatt
     9241 gatgaaaact acagggagcg gggaaaggag acattatgtc ttgttttcct gactttgggt
     9301 tttgtttctc actgtgtctt ctccggctat catatatgtc ccctgaatct catagtgagc
     9361 tgccaaattt gaagtgcatc acccagttgt ctgcatctgg aaccagtcaa gcagtggctg
     9421 tagtttgaac aagttatgtg tgcatgtaac atatatacat atatacatat atacaagtat
     9481 gtgcatgata atgtatatct tcgtactttt tgatacaatg tattcatttg ttaattttta
     9541 attatatttg atataaatca aaggtttgtt gcaaaacttt atatttaaga agtgttaaaa
     9601 aaaaaaaaaa gtcccaacca tgcaacacaa ctgggaccta cttaaaaaga aattctgtga
     9661 ttgactagtt tgctgcctga gtcatattta tcagccaaac tttggattct gctgttgttt
     9721 ctacaatgac attttgtatg aagcaaagtc cttgaattaa aataaaaact tagcaaaaaa
     9781 tcaaaaacaa aa
//
LOCUS       NM_000719              13744 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens calcium voltage-gated channel subunit alpha1 C
            (CACNA1C), transcript variant 18, mRNA.
ACCESSION   NM_000719
VERSION     NM_000719.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 13744)
  AUTHORS   Guo X, Wang S, Lin X, Wang Z, Dou Y, Cao Y, Zhang Y, Luo X, Kang L,
            Yu T, Wang Z, Tan Y, Gao S, Zheng H, Zhao F, Wang H, Wang K, Xie F,
            Chen W and Luo X.
  TITLE     A novel risk variant block across introns 36-45 of CACNA1C for
            schizophrenia: a cohort-wise replication and cerebral region-wide
            validation study
  JOURNAL   Psychiatr Genet 33 (5), 182-190 (2023)
   PUBMED   37706495
  REMARK    GeneRIF: A novel risk variant block across introns 36-45 of CACNA1C
            for schizophrenia: a cohort-wise replication and cerebral
            region-wide validation study.
REFERENCE   2  (bases 1 to 13744)
  AUTHORS   Chen Z, Mondal A, Abderemane-Ali F, Jang S, Niranjan S, Montano JL,
            Zaro BW and Minor DL Jr.
  TITLE     EMC chaperone-CaV structure reveals an ion channel assembly
            intermediate
  JOURNAL   Nature 619 (7969), 410-419 (2023)
   PUBMED   37196677
  REMARK    GeneRIF: EMC chaperone-CaV structure reveals an ion channel assembly
            intermediate.
REFERENCE   3  (bases 1 to 13744)
  AUTHORS   Deliniere A, Haddad C, Herrera-Siklody C, Hermida A, Pruvot E,
            Bressieux-Degueldre S, Millat G, Janin A, Hermida JS, Asatryan B and
            Chevalier P.
  TITLE     Phenotypic Characterization of Timothy Syndrome Caused by the
            CACNA1C p.Gly402Ser Variant
  JOURNAL   Circ Genom Precis Med 16 (3), 280-282 (2023)
   PUBMED   37009738
  REMARK    GeneRIF: Phenotypic Characterization of Timothy Syndrome Caused by
            the CACNA1C p.Gly402Ser Variant.
REFERENCE   4  (bases 1 to 13744)
  AUTHORS   Herold KG, Hussey JW and Dick IE.
  TITLE     CACNA1C-Related Channelopathies
  JOURNAL   Handb Exp Pharmacol 279, 159-181 (2023)
   PUBMED   36598608
  REMARK    GeneRIF: CACNA1C-Related Channelopathies. Review article
REFERENCE   5  (bases 1 to 13744)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301690
REFERENCE   6  (bases 1 to 13744)
  AUTHORS   Napolitano,C., Timothy,K.W., Bloise,R. and Priori,S.G.
  TITLE     CACNA1C-Related Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301577
REFERENCE   7  (bases 1 to 13744)
  AUTHORS   Alders,M., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301308
REFERENCE   8  (bases 1 to 13744)
  AUTHORS   Sun W, McPherson JD, Hoang DQ, Wasmuth JJ, Evans GA and Montal M.
  TITLE     Mapping of a human brain voltage-gated calcium channel to human
            chromosome 12p13-pter
  JOURNAL   Genomics 14 (4), 1092-1094 (1992)
   PUBMED   1335957
REFERENCE   9  (bases 1 to 13744)
  AUTHORS   Powers PA, Gregg RG and Hogan K.
  TITLE     Linkage mapping of the human gene for the alpha 1 subunit of the
            cardiac DHP-sensitive Ca2+ channel (CACNL1A1) to chromosome
            12p13.2-pter using a dinucleotide repeat
  JOURNAL   Genomics 14 (1), 206-207 (1992)
   PUBMED   1330882
REFERENCE   10  (bases 1 to 13744)
  AUTHORS   Soldatov NM.
  TITLE     Molecular diversity of L-type Ca2+ channel transcripts in human
            fibroblasts
  JOURNAL   Proc Natl Acad Sci U S A 89 (10), 4628-4632 (1992)
   PUBMED   1316612
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF465484.1, Z34810.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000399655.6/ ENSP00000382563.1
            RefSeq Select criteria      :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005342.1, Z34810.1 and
            AC007618.21.
            On May 2, 2019 this sequence version replaced NM_000719.6.
            Summary: This gene encodes an alpha-1 subunit of a
            voltage-dependent calcium channel. Calcium channels mediate the
            influx of calcium ions into the cell upon membrane polarization.
            The alpha-1 subunit consists of 24 transmembrane segments and forms
            the pore through which ions pass into the cell. The calcium channel
            consists of a complex of alpha-1, alpha-2/delta, beta, and gamma
            subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of
            these proteins, either encoded by different genes or the result of
            alternative splicing of transcripts. The protein encoded by this
            gene binds to and is inhibited by dihydropyridine. Alternative
            splicing results in many transcript variants encoding different
            proteins. Some of the predicted proteins may not produce functional
            ion channel subunits. [provided by RefSeq, Oct 2012].
            Transcript Variant: This variant (18), also referred to as HLCC70,
            lacks three alternate in-frame exons, compared to variant 1,
            resulting in a shorter protein (isoform 18), compared to isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..13744
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.33"
     gene            1..13744
                     /gene="CACNA1C"
                     /gene_synonym="CACH2; CACN2; CACNA1C-IT2; CACNL1A1; CaV1.2;
                     CCHL1A1; LQT8; NEDHLSS; TS; TS. LQT8"
                     /note="calcium voltage-gated channel subunit alpha1 C"
                     /db_xref="GeneID:775"
                     /db_xref="HGNC:HGNC:1390"
                     /db_xref="MIM:114205"
     misc_feature    559..561
                     /gene="CACNA1C"
                     /gene_synonym="CACH2; CACN2; CACNA1C-IT2; CACNL1A1; CaV1.2;
                     CCHL1A1; LQT8; NEDHLSS; TS; TS. LQT8"
                     /note="upstream in-frame stop codon"
     CDS             577..6993
                     /gene="CACNA1C"
                     /gene_synonym="CACH2; CACN2; CACNA1C-IT2; CACNL1A1; CaV1.2;
                     CCHL1A1; LQT8; NEDHLSS; TS; TS. LQT8"
                     /note="isoform 18 is encoded by transcript variant 18;
                     calcium channel, cardic dihydropyridine-sensitive, alpha-1
                     subunit; DHPR, alpha-1 subunit; voltage-dependent L-type
                     Ca2+ channel alpha 1 subunit; calcium channel,
                     voltage-dependent, L type, alpha 1C subunit; CACNA1C
                     intronic transcript 2; CACNA1C intronic transcript 2
                     (non-protein coding)"
                     /codon_start=1
                     /product="voltage-dependent L-type calcium channel subunit
                     alpha-1C isoform 18"
                     /protein_id="NP_000710.5"
                     /db_xref="CCDS:CCDS44794.1"
                     /db_xref="GeneID:775"
                     /db_xref="HGNC:HGNC:1390"
                     /db_xref="MIM:114205"
                     /translation="MVNENTRMYIPEENHQGSNYGSPRPAHANMNANAAAGLAPEHIPT
                     PGAALSWQAAIDAARQAKLMGSAGNATISTVSSTQRKRQQYGKPKKQGSTTATRPPRAL
                     LCLTLKNPIRRACISIVEWKPFEIIILLTIFANCVALAIYIPFPEDDSNATNSNLERVE
                     YLFLIIFTVEAFLKVIAYGLLFHPNAYLRNGWNLLDFIIVVVGLFSAILEQATKADGAN
                     ALGGKGAGFDVKALRAFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIII
                     YAIIGLELFMGKMHKTCYNQEGIADVPAEDDPSPCALETGHGRQCQNGTVCKPGWDGPK
                     HGITNFDNFAFAMLTVFQCITMEGWTDVLYWVNDAVGRDWPWIYFVTLIIIGSFFVLNL
                     VLGVLSGEFSKEREKAKARGDFQKLREKQQLEEDLKGYLDWITQAEDIDPENEDEGMDE
                     EKPRNMSMPTSETESVNTENVAGGDIEGENCGARLAHRISKSKFSRYWRRWNRFCRRKC
                     RAAVKSNVFYWLVIFLVFLNTLTIASEHYNQPNWLTEVQDTANKALLALFTAEMLLKMY
                     SLGLQAYFVSLFNRFDCFVVCGGILETILVETKIMSPLGISVLRCVRLLRIFKITRYWN
                     SLSNLVASLLNSVRSIASLLLLLFLFIIIFSLLGMQLFGGKFNFDEMQTRRSTFDNFPQ
                     SLLTVFQILTGEDWNSVMYDGIMAYGGPSFPGMLVCIYFIILFICGNYILLNVFLAIAV
                     DNLADAESLTSAQKEEEEEKERKKLARTASPEKKQELVEKPAVGESKEEKIELKSITAD
                     GESPPATKINMDDLQPNENEDKSPYPNPETTGEEDEEEPEMPVGPRPRPLSELHLKEKA
                     VPMPEASAFFIFSSNNRFRLQCHRIVNDTIFTNLILFFILLSSISLAAEDPVQHTSFRN
                     HILFYFDIVFTTIFTIEIALKMTAYGAFLHKGSFCRNYFNILDLLVVSVSLISFGIQSS
                     AINVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIVIVTTLLQFMFACIGV
                     QLFKGKLYTCSDSSKQTEAECKGNYITYKDGEVDHPIIQPRSWENSKFDFDNVLAAMMA
                     LFTVSTFEGWPELLYRSIDSHTEDKGPIYNYRVEISIFFIIYIIIIAFFMMNIFVGFVI
                     VTFQEQGEQEYKNCELDKNQRQCVEYALKARPLRRYIPKNQHQYKVWYVVNSTYFEYLM
                     FVLILLNTICLAMQHYGQSCLFKIAMNILNMLFTGLFTVEMILKLIAFKPKHYFCDAWN
                     TFDALIVVGSIVDIAITEVNPAEHTQCSPSMNAEENSRISITFFRLFRVMRLVKLLSRG
                     EGIRTLLWTFIKSFQALPYVALLIVMLFFIYAVIGMQVFGKIALNDTTEINRNNNFQTF
                     PQAVLLLFRCATGEAWQDIMLACMPGKKCAPESEPSNSTEGETPCGSSFAVFYFISFYM
                     LCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWAEYDPEAKGRIKHLDVVTL
                     LRRIQPPLGFGKLCPHRVACKRLVSMNMPLNSDGTVMFNATLFALVRTALRIKTEGNLE
                     QANEELRAIIKKIWKRTSMKLLDQVVPPAGDDEVTVGKFYATFLIQEYFRKFKKRKEQG
                     LVGKPSQRNALSLQAGLRTLHDIGPEIRRAISGDLTAEEELDKAMKEAVSAASEDDIFR
                     RAGGLFGNHVSYYQSDGRSAFPQTFTTQRPLHINKAGSSQGDTESPSHEKLVDSTFTPS
                     SYSSTGSNANINNANNTALGRLPRPAGYPSTVSTVEGHGPPLSPAIRVQEVAWKLSSNR
                     CHSRESQAAMAGQEETSQDETYEVKMNHDTEACSEPSLLSTEMLSYQDDENRQLTLPEE
                     DKRDIRQSPKRGFLRSASLGRRASFHLECLKRQKDRGGDISQKTVLPLHLVHHQALAVA
                     GLSPLLQRSHSPASFPRPFATPPATPGSRGWPPQPVPTLRLEGVESSEKLNSSFPSIHC
                     GSWAETTPGGGGSSAARRVRPVSLMVPSQAGAPGRQFHGSASSLVEAVLISEGLGQFAQ
                     DPKFIEVTTQELADACDMTIEEMESAADNILSGGAPQSPNGALLPFVNCRDAGQDRAGG
                     EEDAGCVRARGRPSEEELQDSRVYVSSL"
     regulatory      7923..7928
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNA1C"
                     /gene_synonym="CACH2; CACN2; CACNA1C-IT2; CACNL1A1; CaV1.2;
                     CCHL1A1; LQT8; NEDHLSS; TS; TS. LQT8"
                     /note="hexamer: AATAGA"
     polyA_site      7953
                     /gene="CACNA1C"
                     /gene_synonym="CACH2; CACN2; CACNA1C-IT2; CACNL1A1; CaV1.2;
                     CCHL1A1; LQT8; NEDHLSS; TS; TS. LQT8"
                     /note="major polyA site"
     regulatory      8637..8642
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNA1C"
                     /gene_synonym="CACH2; CACN2; CACNA1C-IT2; CACNL1A1; CaV1.2;
                     CCHL1A1; LQT8; NEDHLSS; TS; TS. LQT8"
                     /note="hexamer: AATATA"
     polyA_site      8656
                     /gene="CACNA1C"
                     /gene_synonym="CACH2; CACN2; CACNA1C-IT2; CACNL1A1; CaV1.2;
                     CCHL1A1; LQT8; NEDHLSS; TS; TS. LQT8"
     regulatory      8700..8705
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNA1C"
                     /gene_synonym="CACH2; CACN2; CACNA1C-IT2; CACNL1A1; CaV1.2;
                     CCHL1A1; LQT8; NEDHLSS; TS; TS. LQT8"
                     /note="hexamer: AGTAAA"
     polyA_site      8736
                     /gene="CACNA1C"
                     /gene_synonym="CACH2; CACN2; CACNA1C-IT2; CACNL1A1; CaV1.2;
                     CCHL1A1; LQT8; NEDHLSS; TS; TS. LQT8"
     regulatory      13722..13727
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNA1C"
                     /gene_synonym="CACH2; CACN2; CACNA1C-IT2; CACNL1A1; CaV1.2;
                     CCHL1A1; LQT8; NEDHLSS; TS; TS. LQT8"
                     /note="hexamer: AATAAA"
     polyA_site      13744
                     /gene="CACNA1C"
                     /gene_synonym="CACH2; CACN2; CACNA1C-IT2; CACNL1A1; CaV1.2;
                     CCHL1A1; LQT8; NEDHLSS; TS; TS. LQT8"
                     /note="major polyA site"
ORIGIN
        1 gtctccctct cgctgcctct gcagaaacag ctcctgccag agcggcgctc ggcgcggcgc
       61 ggcgggcccg gagcggcggc ggcggctctt cctgcctccg cgcccaggag ttgccggctc
      121 cctttgacag cagagagccg ggcaggggcc tcaggaggac tcgctgggag tgggcagagg
      181 cgcctcggcc cctgccggcc caggcgggcc ccgcgcgccc cccgcccctc ctctccgcct
      241 cttctcgccc tgcctctccc gatttatttt ttcaaatggt gtagccgccg gaggtgcggt
      301 gctcagttct tggaaggggc ccggatgtac tgaggatgcg ttacagtttc actcgaggag
      361 gcagtagtgg aaaggagcag tttttggggt ttgatgccat aatgggaatc aggtaatcgt
      421 cggcggggaa gaagaaacgc tgcagaccac ggcttcctcg aatcttgcgc gaaagccgcc
      481 ggcctcggag gagggattaa tccagacccg ccggggggtg ttttcacatt tcttcctctt
      541 cgtggctgct cctcctatta aaaccatttt tggtccatgg tcaatgagaa tacgaggatg
      601 tacattccag aggaaaacca ccaaggttcc aactatggga gcccacgccc cgcccatgcc
      661 aacatgaatg ccaatgcggc agcggggctg gcccctgagc acatccccac cccgggggct
      721 gccctgtcgt ggcaggcggc catcgacgca gcccggcagg ctaagctgat gggcagcgct
      781 ggcaatgcga ccatctccac agtcagctcc acgcagcgga agcggcagca atatgggaaa
      841 cccaagaagc agggcagcac cacggccaca cgcccgcccc gagccctgct ctgcctgacc
      901 ctgaagaacc ccatccggag ggcctgcatc agcattgtcg aatggaaacc atttgaaata
      961 attattttac tgactatttt tgccaattgt gtggccttag cgatctatat tccctttcca
     1021 gaagatgatt ccaacgccac caattccaac ctggaacgag tggaatatct ctttctcata
     1081 atttttacgg tggaagcgtt tttaaaagta atcgcctatg gactcctctt tcaccccaat
     1141 gcctacctcc gcaacggctg gaacctacta gattttataa ttgtggttgt ggggcttttt
     1201 agtgcaattt tagaacaagc aaccaaagca gatggggcaa acgctctcgg agggaaaggg
     1261 gccggatttg atgtgaaggc gctgagggcc ttccgcgtgc tgcgccccct gcggctggtg
     1321 tccggagtcc caagtctcca ggtggtcctg aattccatca tcaaggccat ggtccccctg
     1381 ctgcacatcg ccctgcttgt gctgtttgtc atcatcatct acgccatcat cggcttggag
     1441 ctcttcatgg ggaagatgca caagacctgc tacaaccagg agggcatagc agatgttcca
     1501 gcagaagatg acccttcccc ttgtgcgctg gaaacgggcc acgggcggca gtgccagaac
     1561 ggcacggtgt gcaagcccgg ctgggatggt cccaagcacg gcatcaccaa ctttgacaac
     1621 tttgccttcg ccatgctcac ggtgttccag tgcatcacca tggagggctg gacggacgtg
     1681 ctgtactggg tcaatgatgc cgtaggaagg gactggccct ggatctattt tgttacacta
     1741 atcatcatag ggtcattttt tgtacttaac ttggttctcg gtgtgcttag cggagagttt
     1801 tccaaagaga gggagaaggc caaggcccgg ggagatttcc agaagctgcg ggagaagcag
     1861 cagctagaag aggatctcaa aggctacctg gattggatca ctcaggccga agacatcgat
     1921 cctgagaatg aggacgaagg catggatgag gagaagcccc gaaacatgag catgcccacc
     1981 agtgagaccg agtccgtcaa caccgaaaac gtggctggag gtgacatcga gggagaaaac
     2041 tgcggggcca ggctggccca ccggatctcc aagtcaaagt tcagccgcta ctggcgccgg
     2101 tggaatcggt tctgcagaag gaagtgccgc gccgcagtca agtctaatgt cttctactgg
     2161 ctggtgattt tcctggtgtt cctcaacacg ctcaccattg cctctgagca ctacaaccag
     2221 cccaactggc tcacagaagt ccaagacacg gcaaacaagg ccctgctggc cctgttcacg
     2281 gcagagatgc tcctgaagat gtacagcctg ggcctgcagg cctacttcgt gtccctcttc
     2341 aaccgctttg actgcttcgt cgtgtgtggc ggcatcctgg agaccatcct ggtggagacc
     2401 aagatcatgt ccccactggg catctccgtg ctcagatgcg tccggctgct gaggattttc
     2461 aagatcacga ggtactggaa ctccttgagc aacctggtgg catccttgct gaactctgtg
     2521 cgctccatcg cctccctgct ccttctcctc ttcctcttca tcatcatctt ctccctcctg
     2581 gggatgcagc tctttggagg aaagttcaac tttgatgaga tgcagacccg gaggagcaca
     2641 ttcgataact tcccccagtc cctcctcact gtgtttcaga tcctgaccgg ggaggactgg
     2701 aattcggtga tgtatgatgg gatcatggct tatggcggcc cctcttttcc agggatgtta
     2761 gtctgtattt acttcatcat cctcttcatc tgtggaaact atatcctact gaatgtgttc
     2821 ttggccattg ctgtggacaa cctggctgat gctgagagcc tcacatctgc ccaaaaggag
     2881 gaggaagagg agaaggagag aaagaagctg gccaggactg ccagcccaga gaagaaacaa
     2941 gagttggtgg agaagccggc agtgggggaa tccaaggagg agaagattga gctgaaatcc
     3001 atcacggctg acggagagtc tccacccgcc accaagatca acatggatga cctccagccc
     3061 aatgaaaatg aggataagag cccctacccc aacccagaaa ctacaggaga agaggatgag
     3121 gaggagccag agatgcctgt cggccctcgc ccacgaccac tctctgagct tcaccttaag
     3181 gaaaaggcag tgcccatgcc agaagccagc gcgtttttca tcttcagctc taacaacagg
     3241 tttcgcctcc agtgccaccg cattgtcaat gacacgatct tcaccaacct gatcctcttc
     3301 ttcattctgc tcagcagcat ttccctggct gctgaggacc cggtccagca cacctccttc
     3361 aggaaccata ttctgtttta ttttgatatt gtttttacca ccattttcac cattgaaatt
     3421 gctctgaaga tgactgctta tggggctttc ttgcacaagg gttctttctg ccggaactac
     3481 ttcaacatcc tggacctgct ggtggtcagc gtgtccctca tctcctttgg catccagtcc
     3541 agtgcaatca atgtcgtgaa gatcttgcga gtcctgcgag tactcaggcc cctgagggcc
     3601 atcaacaggg ccaaggggct aaagcatgtg gttcagtgtg tgtttgtcgc catccggacc
     3661 atcgggaaca tcgtgattgt caccaccctg ctgcagttca tgtttgcctg catcggggtc
     3721 cagctcttca agggaaagct gtacacctgt tcagacagtt ccaagcagac agaggcggaa
     3781 tgcaagggca actacatcac gtacaaagac ggggaggttg accaccccat catccaaccc
     3841 cgcagctggg agaacagcaa gtttgacttt gacaatgttc tggcagccat gatggccctc
     3901 ttcaccgtct ccaccttcga agggtggcca gagctgctgt accgctccat cgactcccac
     3961 acggaagaca agggccccat ctacaactac cgtgtggaga tctccatctt cttcatcatc
     4021 tacatcatca tcatcgcctt cttcatgatg aacatcttcg tgggcttcgt catcgtcacc
     4081 tttcaggagc agggggagca ggagtacaag aactgtgagc tggacaagaa ccagcgacag
     4141 tgcgtggaat acgccctcaa ggcccggccc ctgcggaggt acatccccaa gaaccagcac
     4201 cagtacaaag tgtggtacgt ggtcaactcc acctacttcg agtacctgat gttcgtcctc
     4261 atcctgctca acaccatctg cctggccatg cagcactacg gccagagctg cctgttcaaa
     4321 atcgccatga acatcctcaa catgctcttc actggcctct tcaccgtgga gatgatcctg
     4381 aagctcattg ccttcaaacc caagcactat ttctgtgatg catggaatac atttgacgcc
     4441 ttgattgttg tgggtagcat tgttgatata gcaatcaccg aggtaaaccc agctgaacat
     4501 acccaatgct ctccctctat gaacgcagag gaaaactccc gcatctccat caccttcttc
     4561 cgcctgttcc gggtcatgcg tctggtgaag ctgctgagcc gtggggaggg catccggacg
     4621 ctgctgtgga ccttcatcaa gtccttccag gccctgccct atgtggccct cctgatcgtg
     4681 atgctgttct tcatctacgc ggtgatcggg atgcaggtgt ttgggaaaat tgccctgaat
     4741 gataccacag agatcaaccg gaacaacaac tttcagacct tcccccaggc cgtgctgctc
     4801 ctcttcaggt gtgccaccgg ggaggcctgg caggacatca tgctggcctg catgccaggc
     4861 aagaagtgtg ccccagagtc cgagcccagc aacagcacgg agggtgaaac accctgtggt
     4921 agcagctttg ctgtcttcta cttcatcagc ttctacatgc tctgtgcctt cctgatcatc
     4981 aacctctttg tagctgtcat catggacaac tttgactacc tgacaaggga ctggtccatc
     5041 cttggtcccc accacctgga tgagtttaaa agaatctggg cagagtatga ccctgaagcc
     5101 aagggtcgta tcaaacacct ggatgtggtg accctcctcc ggcggattca gccgccacta
     5161 ggttttggga agctgtgccc tcaccgcgtg gcttgcaaac gcctggtctc catgaacatg
     5221 cctctgaaca gcgacgggac agtcatgttc aatgccaccc tgtttgccct ggtcaggacg
     5281 gccctgagga tcaaaacaga agggaaccta gaacaagcca atgaggagct gcgggcgatc
     5341 atcaagaaga tctggaagcg gaccagcatg aagctgctgg accaggtggt gccccctgca
     5401 ggtgatgatg aggtcaccgt tggcaagttc tacgccacgt tcctgatcca ggagtacttc
     5461 cggaagttca agaagcgcaa agagcagggc cttgtgggca agccctccca gaggaacgcg
     5521 ctgtctctgc aggctggctt gcgcacactg catgacatcg ggcctgagat ccgacgggcc
     5581 atctctggag atctcaccgc tgaggaggag ctggacaagg ccatgaagga ggctgtgtcc
     5641 gctgcttctg aagatgacat cttcaggagg gccggtggcc tgttcggcaa ccacgtcagc
     5701 tactaccaaa gcgacggccg gagcgccttc ccccagacct tcaccactca gcgcccgctg
     5761 cacatcaaca aggcgggcag cagccagggc gacactgagt cgccatccca cgagaagctg
     5821 gtggactcca ccttcacccc gagcagctac tcgtccaccg gctccaacgc caacatcaac
     5881 aacgccaaca acaccgccct gggtcgcctc cctcgccccg ccggctaccc cagcacggtc
     5941 agcactgtgg agggccacgg gccccccttg tcccctgcca tccgggtgca ggaggtggcg
     6001 tggaagctca gctccaacag gtgccactcc cgggagagcc aggcagccat ggcgggtcag
     6061 gaggagacgt ctcaggatga gacctatgaa gtgaagatga accatgacac ggaggcctgc
     6121 agtgagccca gcctgctctc cacagagatg ctctcctacc aggatgacga aaatcggcaa
     6181 ctgacgctcc cagaggagga caagagggac atccggcaat ctccgaagag gggtttcctc
     6241 cgctctgcct cactaggtcg aagggcctcc ttccacctgg aatgtctgaa gcgacagaag
     6301 gaccgagggg gagacatctc tcagaagaca gtcctgccct tgcatctggt tcatcatcag
     6361 gcattggcag tggcaggcct gagccccctc ctccagagaa gccattcccc tgcctcattc
     6421 cctaggcctt ttgccacccc accagccaca cctggcagcc gaggctggcc cccacagccc
     6481 gtccccaccc tgcggcttga gggggtcgag tccagtgaga aactcaacag cagcttccca
     6541 tccatccact gcggctcctg ggctgagacc acccccggtg gcgggggcag cagcgccgcc
     6601 cggagagtcc ggcccgtctc cctcatggtg cccagccagg ctggggcccc agggaggcag
     6661 ttccacggca gtgccagcag cctggtggaa gcggtcttga tttcagaagg actggggcag
     6721 tttgctcaag atcccaagtt catcgaggtc accacccagg agctggccga cgcctgcgac
     6781 atgaccatag aggagatgga gagcgcggcc gacaacatcc tcagcggggg cgccccacag
     6841 agccccaatg gcgccctctt accctttgtg aactgcaggg acgcggggca ggaccgagcc
     6901 gggggcgaag aggacgcggg ctgtgtgcgc gcgcggggtc gaccgagtga ggaggagctc
     6961 caggacagca gggtctacgt cagcagcctg tagtgggcgc tgccagatgc gggctttttt
     7021 ttatttgttt caatgttcct aatgggttcg tttcagaagt gcctcactgt tctcgtgacc
     7081 tggagttaac cggaacagcg tcttcattca tttctgttgg gaccagacgc ggagcctggg
     7141 tgcgcgagcc gccctccggg aggaaggcgc ccggctgcgt ctgcagaggc ggggagagga
     7201 ggcggcgagg gtcccggggc gcgaggaagg cgcctgccct ctcccagctc gcaggccccg
     7261 ggcccggccg cgcctccgcg gggagagcac cccggcttcc cgcgcgccct caccaaaagg
     7321 accctacagc aaacgggtgt ctttcgactc tgcttgtaga aaccatttgc acatattctg
     7381 tacgagcctc gctgtctccc tagagccagg gccctgcgga tttggagaag ggagcggggc
     7441 aggacttcca ggaggacccc aacccggccc ggagagggag gaggaggcct ccaggggcgc
     7501 ggagctctgg ggatgggcgt cgggccggca gtggtgcggc tcactccgtc cctgcccacc
     7561 tgcgacggga tcccccgacc ggcacgggcc acgccgagct cccggccagc cgccggcccg
     7621 caggcagcgc gagggaggag ctgcgccgcc ggctccgccc aaccaggtgg tgctgagctt
     7681 ccgctgagcg ctcttttgtt ttgtggtttg acacttttct tgacagcatg ttgcagtttc
     7741 ttttcggttt tggttttttt taaatgtttt attttgcttt cccagcggga ggggaggaag
     7801 aagagtgttt acaaagtcct gtagccccct cacctttctg ttttcacttt tgccaatgta
     7861 catcgggttt ggttttcttg tattatttaa acggttgtgg tttccttttt ccacggaggt
     7921 tcaatagaag ccgctgcagg agagttttac caaccattgt gtatgcccaa taatttgtta
     7981 tcatttcctt aggtagtaac ctatttttgt tctggtttgg ttcggttatc taatggaaag
     8041 gtaactggca atgcacttga tgtggtcttg cacatgtggg tgatagagtt gggttccttt
     8101 ttatgctggg tgtacaggtg ggtttgggag agaggagcat gcgcgagaga gtctccgagt
     8161 gtgtgcgacg cgtgtgtgtg tggtgggttg tctgtgtgca tatgtcctgc ccgtgtatat
     8221 gcacccacac catgtgcccg tgcacaccag tgactacgca gtcccccctt tctggtttag
     8281 ctgtgggaag atctgaatct ggggccgttt gaaagcaaaa acaaaccact gtctctgctt
     8341 ctgaaacggg aatcagtaac tctttgcatt ttctgtccca caagatatgc aaaaacaatg
     8401 caataatatt catttaaaaa tacaattgtg agttgtgttg gcattaaaac tgtattttaa
     8461 aaaaagacag aaatttaagg gaaaaacaca agaaggcatt ttgcttcaat atattccgtg
     8521 taatgtttta ttgcattgat aatgtttctg ttgaagaaac cgttatactt gaattcaggt
     8581 cagtttcagt atttttcaaa tattttttta aaactgaatt gcaattgtgc caagcgaata
     8641 taatgaattg aattaagttg gttttcggat tcacttcttg tatattttgc tgcatgtaaa
     8701 gtaaatcatt ttgtatttgg agtgtgacaa gctttacctt tgaactcaag tgcttttcta
     8761 tatgtggttg ggggaaaggg aacaagtttt ctttagtttg cacaatgagc aaaggtatca
     8821 ccagtgtagt cattattctg ctctccacaa acaggtttgg acattactgt tttgcatatc
     8881 ttgtgtttgc ttacatttcc ctcaattttt ccaaaatcgt ttgctgggta tgtttgtacc
     8941 gcctcttgct gtgagagacc aggacctatt ttattccagt cttcactctg tccactctgc
     9001 tctggtcatc tgatttggta cttctccaag aacagccctt cactgtgagg tgcagggagg
     9061 cgttctgatg agccctcagt cactgggccg tcatccgcat cccccatgga agaggtagct
     9121 ggctttccct tcccttccac cacacggaat tttctctttg gcttccttag gaaagtgtac
     9181 actaaccggg aggataaaat taaagtcagg ctgcttggag ggaggggcat cctcacttcc
     9241 ggattcttgt tgctctaccc aacaaggaca gcaggggctc gagaaaggaa ctggtgaaac
     9301 cctgatccat ctgaaagtca actctgcgtg ctcctttctc catcccttcc tcactctgga
     9361 gcagcctttc cttcaggctt gccctaatgt ttgggctgcc ggggaggggg ccaggacaag
     9421 ggaagaggca tccggagctc acagtggggg tgggaacaga tttttgtggg ggcatctcta
     9481 atgctcactt atatctccct agaacatcac tcttttggtg ctgtgtcctt caaatgtatg
     9541 tcaacagtgg tggctgaaaa gggactgctt tggggaaaac aggacccaac cattcaccca
     9601 gaattgaccc attaaatctc ttccagtcct agtgttccct gagcccctct tggcacatat
     9661 ataagtaagc tagaaattac aataagggac agtccattcc tctatgacag cttgctggac
     9721 tgattcatga caaagtggag aaatgtactc aatactcccc ggttaacaca gtctagaaac
     9781 agagtttctt tatggatatc cacacccaag tcatccaaac tttcttgatt ccttttcact
     9841 gccatcaagg tcctctagaa attgagttta ggtatcatcc tttgaaaagt tcccaagatt
     9901 tctaccagga ggtacacaca ggcgttccct gtctagggca ggaggactat cctagcttga
     9961 ccttctgatc cactagaata agactggcgt atgatgcctg tcatcagaac agactggcac
    10021 aagtagtgac atcaatgaac cacagcacaa tcttccaagt gatgtctact ctccacctaa
    10081 aatggaattt tccccatgac cttgtaaaac ataattgtca catcttccat acccctcctg
    10141 acagccccca agtgtcagga gaaaacagtc aggggctaag ggcccaaggg acttgaagaa
    10201 acaacagttt aaggtctgca gtttggtcaa cttaattctt gtcctccgac cagccctgcc
    10261 tctttcattt ccagaccttg gagaattttt cccagctttg attcagaagg tactagttat
    10321 aacccctttc cttcttctta atccaatagg cctcactctc actgggaaat ccactcaaag
    10381 gaacaaggca atgtctctca ttctatttcc cagttccaaa ttccaggtgc ttgtctggag
    10441 tgaagctacc cgttactttc tcccagcttt tctccaccca gcatgtctcc tgcccatgca
    10501 gctgaagaca gtggggcaac ctcaggagaa gcagaccttt ccatgcccaa gttcatctcc
    10561 tgagcaacag tgacacctag aaaatgagga ctttggaagt cacccaaaag atggtggcta
    10621 ctttatggag tcctgaagat acacagccac cactcctaaa ggcaaagaaa gaaaacacga
    10681 atgtaggtca gggatagagt ggaaccctgg tcatcggggt ttttagcctc atcgtgggaa
    10741 aggtggtaaa ggaggatgat ggcatctcca tccctagagg ccaagaattg aaatatcatt
    10801 gtcaaggatt agaaacaatt cagcaaagag gccacaaaaa gggcctgctg actcccagaa
    10861 gacctcttta aaccccaggg gaggcaaata cttgctgatg gagtctgggc cgtttccata
    10921 ttttaaagaa gacctgcctc tggggcaaat gtcagcacag agaggactgg gaggagaatg
    10981 gaggcaagaa aagggcatat tttgactccc tctgtgcctc ttcccagttc atggaaggat
    11041 gtgttcagct tacccaccca cagtgaccag tgtggtggag ccgctgacat ctcaaggatc
    11101 tatttgggaa ggtgagaaga gtactcattc catctggggg tgttgttcca gccacatcag
    11161 cctacctggt gggatgtggg ggtgtctgcc accctgtccc ccctctgctg atgtccctcc
    11221 cctcaggctg tccaggtgcc acctgacaca ggctgctgtg caaagacagg cggggaagcc
    11281 caaacctcac tcccagggag gccctcagcc gccagagtcc aggttctcca gaggctacga
    11341 tttgaggagg ttgaggggga agacaggagg gaaagaaaag tcctacaact gtcaggaatg
    11401 gggcaccttt ccctgtccct aagcaaagct ccctcttccc actgccctcc ccagccccag
    11461 ctccctgtcc tccccaacac ctagtgagaa agacggtgcg tggaagggag tcccatgggc
    11521 agatgcttac acgacctctt tgtgaagcct cttctgggtt taacttcatt catcaattta
    11581 ttcttatgtc aaagcaatga aacttttctt tctggagcca gataccaata caacaggtga
    11641 acgggtttct gccacatctc tacattgacg ggggatgctt gaacaacccc cctcactaca
    11701 cagacacaca ccgttaaggc acaagggctg gggttgagct ctagatgagg gactttcctg
    11761 ctcctgcaag ggtgagcact gtatacacag acaaggaggg tgcagtagag tgactccctt
    11821 ggatggaagt agtaccatca gaacctacta ttattatgac ataaattcta tttacataca
    11881 ttgagagaat actacaatca acactttttc ctgggatgac tttaagaggt ttgagccaca
    11941 gcacctgaag tggcaaagat ccatggtctt tgtagggtat tagagaactc ttccagtcac
    12001 ctctgaaagc actctagatc ttgcagctga gtggatgaag tgtaacaaat ctgttgcacg
    12061 ctgagaggag tcagaattag catttttcat gaaagttccc cacgtctcta ctaagaatga
    12121 ggaagaaaag actaagacta ggtaattaca cagaggcttg aaatgttaca tcaccagagc
    12181 caagtcctct cccttcagat cagttactgg ctgctacaca gggacacccc caccttttca
    12241 gggcatccca tgcactccac ttctcaggat ctaaggaatt tgactttgta gggatcccag
    12301 aaagggcact gtgccacttc ccctggtgtg aatcagacat acattgtaca ttcatttcta
    12361 aaattcactc atgcacctca aaccaaggtc attatccaaa aaaaaaaaaa aaaagctctg
    12421 ggtggaagag tttgtaagtt ttaagagagg gtcatttcta tgtgaggaaa tgcagaaatg
    12481 gacagaatga ttcttattca ctgtttgggt ctggagaatt cccattgtgg aaatcttaga
    12541 gatctcaagt ttattaccaa gggaataagg aaaaaaaggt gagcaggcac caggccaagc
    12601 agtggctccc ttgccaagga acctgaggct gcaggtttca gggaccccct tgaagaaacc
    12661 tctcctggcc attggccagg agaaaagaga agtctctcct gtagagtcac aagagaagca
    12721 aaagagggtg ggtcactggg tcctggacat agcccccaac cccaagactt cccaatatgg
    12781 agaaactaca ccaatgttta aaaggggaaa aggaaagaac ttgtacatca agggaagatg
    12841 atttgtaaac acacagtcct gtgcagaaag atccccttca ggaggtgtct ccagcatccc
    12901 aaagctgtgc gcaccttctc ttttcctgcc tcaggccacc tatgcatcca gctgcagccc
    12961 atacccacac ctgaaatcca tctcttgaat cccagccagg ttatatacca ccccattgcc
    13021 atgtcctgtc ctggccagaa tgcatgctgt tcccccaagc ctcgtgggag tgaggccatg
    13081 ggaaacagag atgagcatgt ctggacaagt ctgtgatggt agtggatgag aataacccat
    13141 ggcaaaacac gcacattcat taagaaatag ggcgacagat tccccgttgg tgaagcactg
    13201 aaaggtctat tactctcata atattgctgt tttattttaa tccaccagag ctaccatgca
    13261 aaactttcct cctgtgaaac gctccagata aagctcctct aatctcccct tccctcatgt
    13321 cctccagctc aaacccacct tcatccccca aaccaatctg tatcatgcct gttatcagag
    13381 aggcacagaa agatgggcag tgcctccgtt gtcaccattc cccacacccc tacacacccc
    13441 cacaccctcc cctccaggct ccacgacttc acagtcttac tgttgtaaat atcattgtac
    13501 agtttgtaat cctcaaataa tcccattgtc agaggcctcg cctgatgggc cttctcaccc
    13561 tcgagaaagg ccagggaatc tagaaggggc aacccttcaa ggagagcttc agggtcatct
    13621 ctgtgtgaga cactattgta tattcctgta agattgcatt tttatctaag gaatgatgtt
    13681 atttaaaaaa caaacaaaaa acacaaaaaa taagaattgc aaataaattt cttaacaatg
    13741 tcta
//
LOCUS       NM_000720               9429 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens calcium voltage-gated channel subunit alpha1 D
            (CACNA1D), transcript variant 1, mRNA.
ACCESSION   NM_000720
VERSION     NM_000720.4
KEYWORDS    RefSeq; MANE Plus Clinical.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9429)
  AUTHORS   McKerr N, Mohd-Sarip A, Dorrian H, Breen C, A James J, McQuaid S,
            Mills IG and McCloskey KD.
  TITLE     CACNA1D overexpression and voltage-gated calcium channels in
            prostate cancer during androgen deprivation
  JOURNAL   Sci Rep 13 (1), 4683 (2023)
   PUBMED   36949059
  REMARK    GeneRIF: CACNA1D overexpression and voltage-gated calcium channels
            in prostate cancer during androgen deprivation. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 9429)
  AUTHORS   Ortner NJ.
  TITLE     CACNA1D-Related Channelopathies: From Hypertension to Autism
  JOURNAL   Handb Exp Pharmacol 279, 183-225 (2023)
   PUBMED   36592224
  REMARK    GeneRIF: CACNA1D-Related Channelopathies: From Hypertension to
            Autism. Review article
REFERENCE   3  (bases 1 to 9429)
  AUTHORS   Grimaldo L, Sandoval A, Duran P, Gomez Flores-Ramos L and Felix R.
  TITLE     The ubiquitin E3 ligase Parkin regulates neuronal CaV1.3 channel
            functional expression
  JOURNAL   J Neurophysiol 128 (6), 1555-1564 (2022)
   PUBMED   36350063
  REMARK    GeneRIF: The ubiquitin E3 ligase Parkin regulates neuronal CaV1.3
            channel functional expression.
REFERENCE   4  (bases 1 to 9429)
  AUTHORS   Rinne S, Stallmeyer B, Pinggera A, Netter MF, Matschke LA, Dittmann
            S, Kirchhefer U, Neudorf U, Opp J, Striessnig J, Decher N and
            Schulze-Bahr E.
  TITLE     Whole Exome Sequencing Identifies a Heterozygous Variant in the
            Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction
            and Focal Idiopathic Epilepsy
  JOURNAL   Int J Mol Sci 23 (22), 14215 (2022)
   PUBMED   36430690
  REMARK    GeneRIF: Whole Exome Sequencing Identifies a Heterozygous Variant in
            the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node
            Dysfunction and Focal Idiopathic Epilepsy. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 9429)
  AUTHORS   Guo H, Li T and Wen H.
  TITLE     Identifying shared genetic loci between coronavirus disease 2019 and
            cardiovascular diseases based on cross-trait meta-analysis
  JOURNAL   Front Microbiol 13, 993933 (2022)
   PUBMED   36187959
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 9429)
  AUTHORS   Seino S, Yamada Y, Espinosa R 3rd, Le Beau MM and Bell GI.
  TITLE     Assignment of the gene encoding the alpha 1 subunit of the
            neuroendocrine/brain-type calcium channel (CACNL1A2) to human
            chromosome 3, band p14.3
  JOURNAL   Genomics 13 (4), 1375-1377 (1992)
   PUBMED   1324226
REFERENCE   7  (bases 1 to 9429)
  AUTHORS   Seino S, Chen L, Seino M, Blondel O, Takeda J, Johnson JH and Bell
            GI.
  TITLE     Cloning of the alpha 1 subunit of a voltage-dependent calcium
            channel expressed in pancreatic beta cells
  JOURNAL   Proc Natl Acad Sci U S A 89 (2), 584-588 (1992)
   PUBMED   1309948
REFERENCE   8  (bases 1 to 9429)
  AUTHORS   Williams ME, Feldman DH, McCue AF, Brenner R, Velicelebi G, Ellis SB
            and Harpold MM.
  TITLE     Structure and functional expression of alpha 1, alpha 2, and beta
            subunits of a novel human neuronal calcium channel subtype
  JOURNAL   Neuron 8 (1), 71-84 (1992)
   PUBMED   1309651
REFERENCE   9  (bases 1 to 9429)
  AUTHORS   Chin HM, Kozak CA, Kim HL, Mock B and McBride OW.
  TITLE     A brain L-type calcium channel alpha 1 subunit gene (CCHL1A2) maps
            to mouse chromosome 14 and human chromosome 3
  JOURNAL   Genomics 11 (4), 914-919 (1991)
   PUBMED   1664412
REFERENCE   10  (bases 1 to 9429)
  AUTHORS   Mori Y, Friedrich T, Kim MS, Mikami A, Nakai J, Ruth P, Bosse E,
            Hofmann F, Flockerzi V, Furuichi T et al.
  TITLE     Primary structure and functional expression from complementary DNA
            of a brain calcium channel
  JOURNAL   Nature 350 (6317), 398-402 (1991)
   PUBMED   1849233
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M83566.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145544,
            SAMEA2162841 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
            variant(s)
            MANE Ensembl match          :: ENST00000288139.11/ ENSP00000288139.3
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005905.1, M76558.1, M83566.1,
            AC132810.2, AB209171.1, AW008794.1 and AC012467.9.
            On May 31, 2019 this sequence version replaced NM_000720.3.
            Summary: Voltage-dependent calcium channels mediate the entry of
            calcium ions into excitable cells, and are also involved in a
            variety of calcium-dependent processes, including muscle
            contraction, hormone or neurotransmitter release, and gene
            expression. Calcium channels are multisubunit complexes composed of
            alpha-1, beta, alpha-2/delta, and gamma subunits. The channel
            activity is directed by the pore-forming alpha-1 subunit, whereas
            the others act as auxiliary subunits regulating this activity. The
            distinctive properties of the calcium channel types are related
            primarily to the expression of a variety of alpha-1 isoforms,
            namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D
            subunit. Several transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Dec 2012].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..9429
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.1"
     gene            1..9429
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="calcium voltage-gated channel subunit alpha1 D"
                     /db_xref="GeneID:776"
                     /db_xref="HGNC:HGNC:1391"
                     /db_xref="MIM:114206"
     misc_feature    533..535
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="upstream in-frame stop codon"
     CDS             557..7102
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="isoform a is encoded by transcript variant 1;
                     calcium channel, neuroendocrine/brain-type, alpha 1
                     subunit; calcium channel, L type, alpha-1 polypeptide;
                     voltage-gated calcium channel alpha subunit Cav1.3; calcium
                     channel, voltage-dependent, L type, alpha 1D subunit;
                     voltage-gated calcium channel alpha 1 subunit"
                     /codon_start=1
                     /product="voltage-dependent L-type calcium channel subunit
                     alpha-1D isoform a"
                     /protein_id="NP_000711.1"
                     /db_xref="CCDS:CCDS2872.1"
                     /db_xref="GeneID:776"
                     /db_xref="HGNC:HGNC:1391"
                     /db_xref="MIM:114206"
                     /translation="MMMMMMMKKMQHQRQQQADHANEANYARGTRLPLSGEGPTSQPNS
                     SKQTVLSWQAAIDAARQAKAAQTMSTSAPPPVGSLSQRKRQQYAKSKKQGNSSNSRPAR
                     ALFCLSLNNPIRRACISIVEWKPFDIFILLAIFANCVALAIYIPFPEDDSNSTNHNLEK
                     VEYAFLIIFTVETFLKIIAYGLLLHPNAYVRNGWNLLDFVIVIVGLFSVILEQLTKETE
                     GGNHSSGKSGGFDVKALRAFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFV
                     IIIYAIIGLELFIGKMHKTCFFADSDIVAEEDPAPCAFSGNGRQCTANGTECRSGWVGP
                     NGGITNFDNFAFAMLTVFQCITMEGWTDVLYWVNDAIGWEWPWVYFVSLIILGSFFVLN
                     LVLGVLSGEFSKEREKAKARGDFQKLREKQQLEEDLKGYLDWITQAEDIDPENEEEGGE
                     EGKRNTSMPTSETESVNTENVSGEGENRGCCGSLWCWWRRRGAAKAGPSGCRRWGQAIS
                     KSKLSRRWRRWNRFNRRRCRAAVKSVTFYWLVIVLVFLNTLTISSEHYNQPDWLTQIQD
                     IANKVLLALFTCEMLVKMYSLGLQAYFVSLFNRFDCFVVCGGITETILVELEIMSPLGI
                     SVFRCVRLLRIFKVTRHWTSLSNLVASLLNSMKSIASLLLLLFLFIIIFSLLGMQLFGG
                     KFNFDETQTKRSTFDNFPQALLTVFQILTGEDWNAVMYDGIMAYGGPSSSGMIVCIYFI
                     ILFICGNYILLNVFLAIAVDNLADAESLNTAQKEEAEEKERKKIARKESLENKKNNKPE
                     VNQIANSDNKVTIDDYREEDEDKDPYPPCDVPVGEEEEEEEEDEPEVPAGPRPRRISEL
                     NMKEKIAPIPEGSAFFILSKTNPIRVGCHKLINHHIFTNLILVFIMLSSAALAAEDPIR
                     SHSFRNTILGYFDYAFTAIFTVEILLKMTTFGAFLHKGAFCRNYFNLLDMLVVGVSLVS
                     FGIQSSAISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFM
                     FACIGVQLFKGKFYRCTDEAKSNPEECRGLFILYKDGDVDSPVVRERIWQNSDFNFDNV
                     LSAMMALFTVSTFEGWPALLYKAIDSNGENIGPIYNHRVEISIFFIIYIIIVAFFMMNI
                     FVGFVIVTFQEQGEKEYKNCELDKNQRQCVEYALKARPLRRYIPKNPYQYKFWYVVNSS
                     PFEYMMFVLIMLNTLCLAMQHYEQSKMFNDAMDILNMVFTGVFTVEMVLKVIAFKPKGY
                     FSDAWNTFDSLIVIGSIIDVALSEADPTESENVPVPTATPGNSEESNRISITFFRLFRV
                     MRLVKLLSRGEGIRTLLWTFIKSFQALPYVALLIAMLFFIYAVIGMQMFGKVAMRDNNQ
                     INRNNNFQTFPQAVLLLFRCATGEAWQEIMLACLPGKLCDPESDYNPGEEYTCGSNFAI
                     VYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWSEYDPEAKGRI
                     KHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVAMNMPLNSDGTVMFNATLFALVRTALK
                     IKTEGNLEQANEELRAVIKKIWKKTSMKLLDQVVPPAGDDEVTVGKFYATFLIQDYFRK
                     FKKRKEQGLVGKYPAKNTTIALQAGLRTLHDIGPEIRRAISCDLQDDEPEETKREEEDD
                     VFKRNGALLGNHVNHVNSDRRDSLQQTNTTHRPLHVQRPSIPPASDTEKPLFPPAGNSV
                     CHNHHNHNSIGKQVPTSTNANLNNANMSKAAHGKRPSIGNLEHVSENGHHSSHKHDREP
                     QRRSSVKRTRYYETYIRSDSGDEQLPTICREDPEIHGYFRDPHCLGEQEYFSSEECYED
                     DSSPTWSRQNYGYYSRYPGRNIDSERPRGYHHPQGFLEDDDSPVCYDSRRSPRRRLLPP
                     TPASHRRSSFNFECLRRQSSQEEVPSSPIFPHRTALPLHLMQQQIMAVAGLDSSKAQKY
                     SPSHSTRSWATPPATPPYRDWTPCYTPLIQVEQSEALDQVNGSLPSLHRSSWYTDEPDI
                     SYRTFTPASLTVPSSFRNKNSDKQRSADSLVEAVLISEGLGRYARDPKFVSATKHEIAD
                     ACDLTIDEMESAASTLLNGNVRPRANGDVGPLSHRQDYELQDFGPGYSDEEPDPGRDEE
                     DLADEMICITTL"
     misc_feature    557..619
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    644..703
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    746..856
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    893..1783
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: I"
     misc_feature    935..991
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    1019..1021
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q01668.2); glycosylation site"
     misc_feature    1046..1105
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    1142..1198
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    1229..1231
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q01668.2); glycosylation site"
     misc_feature    1262..1318
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    1376..1435
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    1541..1543
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q01668.2); glycosylation site"
     misc_feature    1700..1774
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    1841..1894
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: Binding to the beta subunit. /evidence=ECO:0000250"
     misc_feature    1901..2002
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2141..2881
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: II"
     misc_feature    2186..2245
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    2291..2347
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    2372..2428
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    2459..2515
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    2573..2635
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    2798..2872
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    2912..3166
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3233..4081
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: III"
     misc_feature    3275..3331
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    3380..3439
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    3476..3532
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    3551..3610
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    3668..3727
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    3839..4111
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: Dihydropyridine binding. /evidence=ECO:0000250"
     misc_feature    3998..4060
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    4190..5017
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: IV"
     misc_feature    4232..4288
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    4334..4393
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    4415..4480
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    4556..4615
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    4673..4732
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    4874..5074
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: Dihydropyridine binding. /evidence=ECO:0000250"
     misc_feature    4910..5041
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: Phenylalkylamine binding. /evidence=ECO:0000250"
     misc_feature    4934..5008
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     transmembrane region"
     misc_feature    5591..5650
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5666..6028
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    6230..6373
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    6938..7072
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01668.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      8134..8139
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="hexamer: TATAAA"
     polyA_site      8161
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
     regulatory      9405..9410
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="hexamer: ATTAAA"
     polyA_site      9429
                     /gene="CACNA1D"
                     /gene_synonym="CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2;
                     PASNA; SANDD"
                     /note="major polyA site"
ORIGIN
        1 gaagccggcg tgcggcgcgg cgcggcgggc gcggagcgag cgggcgggcg agcgcctccg
       61 tccccggatg tgagctccgg ctgcccgcgg tcccgagcca gcggcggcgc gggcggcggc
      121 ggcgggcacc gggcaccgcg gcgggcgggc agacgggcgg gcatgggggg agcgccgagc
      181 ggccccggcg gccgggccgg catcaccgcg gcgtctctcc gctagaggag gggacaagcc
      241 agttctcctt tgcagcaaaa aattacatgt atatattatt aagataatat atacattgga
      301 ttttattttt ttaaaaagtt tattttgctc catttttgaa aaagagagag cttgggtggc
      361 gagcggtttt ttttttaaat caattatcct tattttctgt tatttgtccc cgtccctccc
      421 cacccccctg ctgaagcgag aataagggca gggaccgcgg ctcctacctc ttggtgatcc
      481 ccttccccat tccgcccccg cctcaacgcc cagcacagtg ccctgcacac agtagtcgct
      541 caataaatgt tcgtggatga tgatgatgat gatgatgaaa aaaatgcagc atcaacggca
      601 gcagcaagcg gaccacgcga acgaggcaaa ctatgcaaga ggcaccagac ttcctctttc
      661 tggtgaagga ccaacttctc agccgaatag ctccaagcaa actgtcctgt cttggcaagc
      721 tgcaatcgat gctgctagac aggccaaggc tgcccaaact atgagcacct ctgcaccccc
      781 acctgtagga tctctctccc aaagaaaacg tcagcaatac gccaagagca aaaaacaggg
      841 taactcgtcc aacagccgac ctgcccgcgc ccttttctgt ttatcactca ataaccccat
      901 ccgaagagcc tgcattagta tagtggaatg gaaaccattt gacatattta tattattggc
      961 tatttttgcc aattgtgtgg ccttagctat ttacatccca ttccctgaag atgattctaa
     1021 ttcaacaaat cataacttgg aaaaagtaga atatgccttc ctgattattt ttacagtcga
     1081 gacatttttg aagattatag cgtatggatt attgctacat cctaatgctt atgttaggaa
     1141 tggatggaat ttactggatt ttgttatagt aatagtagga ttgtttagtg taattttgga
     1201 acaattaacc aaagaaacag aaggcgggaa ccactcaagc ggcaaatctg gaggctttga
     1261 tgtcaaagcc ctccgtgcct ttcgagtgtt gcgaccactt cgactagtgt caggagtgcc
     1321 cagtttacaa gttgtcctga actccattat aaaagccatg gttcccctcc ttcacatagc
     1381 ccttttggta ttatttgtaa tcataatcta tgctattata ggattggaac tttttattgg
     1441 aaaaatgcac aaaacatgtt tttttgctga ctcagatatc gtagctgaag aggacccagc
     1501 tccatgtgcg ttctcaggga atggacgcca gtgtactgcc aatggcacgg aatgtaggag
     1561 tggctgggtt ggcccgaacg gaggcatcac caactttgat aactttgcct ttgccatgct
     1621 tactgtgttt cagtgcatca ccatggaggg ctggacagat gtgctctact gggtaaatga
     1681 tgcgatagga tgggaatggc catgggtgta ttttgttagt ctgatcatcc ttggctcatt
     1741 tttcgtcctt aacctggttc ttggtgtcct tagtggagaa ttctcaaagg aaagagagaa
     1801 ggcaaaagca cggggagatt tccagaagct ccgggagaag cagcagctgg aggaggatct
     1861 aaagggctac ttggattgga tcacccaagc tgaggacatc gatccggaga atgaggaaga
     1921 aggaggagag gaaggcaaac gaaatactag catgcccacc agcgagactg agtctgtgaa
     1981 cacagagaac gtcagcggtg aaggcgagaa ccgaggctgc tgtggaagtc tctggtgctg
     2041 gtggagacgg agaggcgcgg ccaaggcggg gccctctggg tgtcggcggt ggggtcaagc
     2101 catctcaaaa tccaaactca gccgacgctg gcgtcgctgg aaccgattca atcgcagaag
     2161 atgtagggcc gccgtgaagt ctgtcacgtt ttactggctg gttatcgtcc tggtgtttct
     2221 gaacacctta accatttcct ctgagcacta caatcagcca gattggttga cacagattca
     2281 agatattgcc aacaaagtcc tcttggctct gttcacctgc gagatgctgg taaaaatgta
     2341 cagcttgggc ctccaagcat atttcgtctc tcttttcaac cggtttgatt gcttcgtggt
     2401 gtgtggtgga atcactgaga cgatcttggt ggaactggaa atcatgtctc ccctggggat
     2461 ctctgtgttt cggtgtgtgc gcctcttaag aatcttcaaa gtgaccaggc actggacttc
     2521 cctgagcaac ttagtggcat ccttattaaa ctccatgaag tccatcgctt cgctgttgct
     2581 tctgcttttt ctcttcatta tcatcttttc cttgcttggg atgcagctgt ttggcggcaa
     2641 gtttaatttt gatgaaacgc aaaccaagcg gagcaccttt gacaatttcc ctcaagcact
     2701 tctcacagtg ttccagatcc tgacaggcga agactggaat gctgtgatgt acgatggcat
     2761 catggcttac gggggcccat cctcttcagg aatgatcgtc tgcatctact tcatcatcct
     2821 cttcatttgt ggtaactata ttctactgaa tgtcttcttg gccatcgctg tagacaattt
     2881 ggctgatgct gaaagtctga acactgctca gaaagaagaa gcggaagaaa aggagaggaa
     2941 aaagattgcc agaaaagaga gcctagaaaa taaaaagaac aacaaaccag aagtcaacca
     3001 gatagccaac agtgacaaca aggttacaat tgatgactat agagaagagg atgaagacaa
     3061 ggacccctat ccgccttgcg atgtgccagt aggggaagag gaagaggaag aggaggagga
     3121 tgaacctgag gttcctgccg gaccccgtcc tcgaaggatc tcggagttga acatgaagga
     3181 aaaaattgcc cccatccctg aagggagcgc tttcttcatt cttagcaaga ccaacccgat
     3241 ccgcgtaggc tgccacaagc tcatcaacca ccacatcttc accaacctca tccttgtctt
     3301 catcatgctg agcagcgctg ccctggccgc agaggacccc atccgcagcc actccttccg
     3361 gaacacgata ctgggttact ttgactatgc cttcacagcc atctttactg ttgagatcct
     3421 gttgaagatg acaacttttg gagctttcct ccacaaaggg gccttctgca ggaactactt
     3481 caatttgctg gatatgctgg tggttggggt gtctctggtg tcatttggga ttcaatccag
     3541 tgccatctcc gttgtgaaga ttctgagggt cttaagggtc ctgcgtcccc tcagggccat
     3601 caacagagca aaaggactta agcacgtggt ccagtgcgtc ttcgtggcca tccggaccat
     3661 cggcaacatc atgatcgtca ccaccctcct gcagttcatg tttgcctgta tcggggtcca
     3721 gttgttcaag gggaagttct atcgctgtac ggatgaagcc aaaagtaacc ctgaagaatg
     3781 caggggactt ttcatcctct acaaggatgg ggatgttgac agtcctgtgg tccgtgaacg
     3841 gatctggcaa aacagtgatt tcaacttcga caacgtcctc tctgctatga tggcgctctt
     3901 cacagtctcc acgtttgagg gctggcctgc gttgctgtat aaagccatcg actcgaatgg
     3961 agagaacatc ggcccaatct acaaccaccg cgtggagatc tccatcttct tcatcatcta
     4021 catcatcatt gtagctttct tcatgatgaa catctttgtg ggctttgtca tcgttacatt
     4081 tcaggaacaa ggagaaaaag agtataagaa ctgtgagctg gacaaaaatc agcgtcagtg
     4141 tgttgaatac gccttgaaag cacgtccctt gcggagatac atccccaaaa acccctacca
     4201 gtacaagttc tggtacgtgg tgaactcttc gcctttcgaa tacatgatgt ttgtcctcat
     4261 catgctcaac acactctgct tggccatgca gcactacgag cagtccaaga tgttcaatga
     4321 tgccatggac attctgaaca tggtcttcac cggggtgttc accgtcgaga tggttttgaa
     4381 agtcatcgca tttaagccta aggggtattt tagtgacgcc tggaacacgt ttgactccct
     4441 catcgtaatc ggcagcatta tagacgtggc cctcagcgaa gcagacccaa ctgaaagtga
     4501 aaatgtccct gtcccaactg ctacacctgg gaactctgaa gagagcaata gaatctccat
     4561 cacctttttc cgtcttttcc gagtgatgcg attggtgaag cttctcagca ggggggaagg
     4621 catccggaca ttgctgtgga cttttattaa gtcctttcag gcgctcccgt atgtggccct
     4681 cctcatagcc atgctgttct tcatctatgc ggtcattggc atgcagatgt ttgggaaagt
     4741 tgccatgaga gataacaacc agatcaatag gaacaataac ttccagacgt ttccccaggc
     4801 ggtgctgctg ctcttcaggt gtgcaacagg tgaggcctgg caggagatca tgctggcctg
     4861 tctcccaggg aagctctgtg accctgagtc agattacaac cccggggagg agtatacatg
     4921 tgggagcaac tttgccattg tctatttcat cagtttttac atgctctgtg catttctgat
     4981 catcaatctg tttgtggctg tcatcatgga taatttcgac tatctgaccc gggactggtc
     5041 tattttgggg cctcaccatt tagatgaatt caaaagaata tggtcagaat atgaccctga
     5101 ggcaaaggga aggataaaac accttgatgt ggtcactctg cttcgacgca tccagcctcc
     5161 cctggggttt gggaagttat gtccacacag ggtagcgtgc aagagattag ttgccatgaa
     5221 catgcctctc aacagtgacg ggacagtcat gtttaatgca accctgtttg ctttggttcg
     5281 aacggctctt aagatcaaga ccgaagggaa cctggagcaa gctaatgaag aacttcgggc
     5341 tgtgataaag aaaatttgga agaaaaccag catgaaatta cttgaccaag ttgtccctcc
     5401 agctggtgat gatgaggtaa ccgtggggaa gttctatgcc actttcctga tacaggacta
     5461 ctttaggaaa ttcaagaaac ggaaagaaca aggactggtg ggaaagtacc ctgcgaagaa
     5521 caccacaatt gccctacagg cgggattaag gacactgcat gacattgggc cagaaatccg
     5581 gcgtgctata tcgtgtgatt tgcaagatga cgagcctgag gaaacaaaac gagaagaaga
     5641 agatgatgtg ttcaaaagaa atggtgccct gcttggaaac catgtcaatc atgttaatag
     5701 tgataggaga gattcccttc agcagaccaa taccacccac cgtcccctgc atgtccaaag
     5761 gccttcaatt ccacctgcaa gtgatactga gaaaccgctg tttcctccag caggaaattc
     5821 ggtgtgtcat aaccatcata accataattc cataggaaag caagttccca cctcaacaaa
     5881 tgccaatctc aataatgcca atatgtccaa agctgcccat ggaaagcggc ccagcattgg
     5941 gaaccttgag catgtgtctg aaaatgggca tcattcttcc cacaagcatg accgggagcc
     6001 tcagagaagg tccagtgtga aaagaacccg ctattatgaa acttacatta ggtccgactc
     6061 aggagatgaa cagctcccaa ctatttgccg ggaagaccca gagatacatg gctatttcag
     6121 ggacccccac tgcttggggg agcaggagta tttcagtagt gaggaatgct acgaggatga
     6181 cagctcgccc acctggagca ggcaaaacta tggctactac agcagatacc caggcagaaa
     6241 catcgactct gagaggcccc gaggctacca tcatccccaa ggattcttgg aggacgatga
     6301 ctcgcccgtt tgctatgatt cacggagatc tccaaggaga cgcctactac ctcccacccc
     6361 agcatcccac cggagatcct ccttcaactt tgagtgcctg cgccggcaga gcagccagga
     6421 agaggtcccg tcgtctccca tcttccccca tcgcacggcc ctgcctctgc atctaatgca
     6481 gcaacagatc atggcagttg ccggcctaga ttcaagtaaa gcccagaagt actcaccgag
     6541 tcactcgacc cggtcgtggg ccacccctcc agcaacccct ccctaccggg actggacacc
     6601 gtgctacacc cccctgatcc aagtggagca gtcagaggcc ctggaccagg tgaacggcag
     6661 cctgccgtcc ctgcaccgca gctcctggta cacagacgag cccgacatct cctaccggac
     6721 tttcacacca gccagcctga ctgtccccag cagcttccgg aacaaaaaca gcgacaagca
     6781 gaggagtgcg gacagcttgg tggaggcagt cctgatatcc gaaggcttgg gacgctatgc
     6841 aagggaccca aaatttgtgt cagcaacaaa acacgaaatc gctgatgcct gtgacctcac
     6901 catcgacgag atggagagtg cagccagcac cctgcttaat gggaacgtgc gtccccgagc
     6961 caacggggat gtgggccccc tctcacaccg gcaggactat gagctacagg actttggtcc
     7021 tggctacagc gacgaagagc cagaccctgg gagggatgag gaggacctgg cggatgaaat
     7081 gatatgcatc accaccttgt agcccccagc gaggggcaga ctggctctgg cctcaggtgg
     7141 ggcgcaggag agccagggga aaagtgcctc atagttagga aagtttaggc actagttggg
     7201 agtaatattc aattaattag acttttgtat aagagatgtc atgcctcaag aaagccataa
     7261 acctggtagg aacaggtccc aagcggttga gcctggcaga gtaccatgcg ctcggcccca
     7321 gctgcaggaa acagcaggcc ccgccctctc acagaggatg ggtgaggagg ccagacctgc
     7381 cctgccccat tgtccagatg ggcactgctg tggagtctgc ttctcccatg taccagggca
     7441 ccaggcccac ccaactgaag gcatggcggc ggggtgcagg ggaaagttaa aggtgatgac
     7501 gatcatcaca cctgtgtcgt tacctcagcc atcggtctag catatcagtc actgggccca
     7561 acatatccat ttttaaaccc tttcccccaa atacactgcg tcctggttcc tgtttagctg
     7621 ttctgaaata cggtgtgtaa gtaagtcaga acccagctac cagtgattat tgcgagggca
     7681 atgggacctc ataaataagg ttttctgtga tgtgacgcca gtttacataa gagaatatca
     7741 ctccgatggt cggtttctga ctgtcacgct aagggcaact gtaaactgga ataataatgc
     7801 actcgcaacc aggtaaactt agatacacta gtttgtttaa aattatagat ttactgtaca
     7861 tgacttgtaa tatactataa tttgtatttg taaagagatg gtctatattt tgtaattact
     7921 gtattgtatt tgaactgcag caatatccat gggtcctaat aattgtagtt ccccactaaa
     7981 atctagaaat tattagtatt tttactcggg ctatccagaa gtagaagaaa tagagccaat
     8041 tctcatttat tcagcgaaaa tcctctgggg ttaaaatttt aagtttgaaa gaacttgaca
     8101 ctacagaaat ttttctaaaa tattttgagt cactataaac ctatcatctt tccacaagat
     8161 ataccagatg actatttgca gtcttttctt tgggcaagag ttccatgatt ttgatactgt
     8221 acctttggat ccaccatggg ttgcaactgt ctttggtttt gtttgtttga cttgaaccac
     8281 cctctggtaa gtaagtaagt gaattacaga gcaggtccag ctggctgctc tgccccttgg
     8341 gtatccatag ttacggtttt ctctgtggcc cacccagggt gttttttgca tcgctggtgc
     8401 agaaatgcat aggtggatga gatatagctg ctcttgtcct ctggggactg gtggtgctgc
     8461 ttaagaaata aggggtgctg gggacagagg agcaacgtgg tgatctatag gattggagtg
     8521 tcggggtctg tacaaatcgt attgttgcct tttacaaaac tgctgtactg tatgttctct
     8581 ttgagggctt ttatatgcaa ttgaatgagg gctgaagttt tcattagaat gcactcacac
     8641 tctgactgta cgtcctgatg aaaacccact tttggataat tagaaccgtc aaggcttcat
     8701 tttctgtcaa cagaattagg ccgactgtca ggttaccttg gcagggattc cctgcaatca
     8761 aaaagataga tgataggtag caattttggt ccaaaatttt taatagtata cagacaacct
     8821 gttaattttt tttttttttt ttttttttgt aaataacaaa caccactttg ttatgaagac
     8881 cttacaaacc tcttcttaag acattcttac tctgatccag gcaaaaacac ttcaaggttt
     8941 gtaaatgact ctttcctgac ataaatcctt ttttattaaa atgcaaaatg ttcttcagaa
     9001 taaaactgtg taataatttt tatacttggg agtgctcctt gcacagagct gtcatttgcc
     9061 agtgagagcc tccgacaggg caggtactgt gccagggcag ctctgaaatt atggatattc
     9121 ttatcctcct ggttccttcg gtgccaatgg taacctaata ccagccgcag ggagcgccat
     9181 ttctcctaaa gggctacacc actgtcaaca ttatcctgga ctctgtgtct ctctctgttg
     9241 ggtcttgtgg catcacatca ggccaaaatt gccagaccag gaccctaagt gtctgataga
     9301 ggcgatgatc ttttccaaag tcagtactta caaactggca ttcttacagg ctgcaccatt
     9361 tcctagtatg tctgctttaa gcctggttca acctctcatc gaatattaaa tttttctttg
     9421 taagaaaaa
//
LOCUS       NM_000722               7542 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens calcium voltage-gated channel auxiliary subunit
            alpha2delta 1 (CACNA2D1), transcript variant 1, mRNA.
ACCESSION   NM_000722
VERSION     NM_000722.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7542)
  AUTHORS   Chen Z, Mondal A, Abderemane-Ali F, Jang S, Niranjan S, Montano JL,
            Zaro BW and Minor DL Jr.
  TITLE     EMC chaperone-CaV structure reveals an ion channel assembly
            intermediate
  JOURNAL   Nature 619 (7969), 410-419 (2023)
   PUBMED   37196677
  REMARK    GeneRIF: EMC chaperone-CaV structure reveals an ion channel assembly
            intermediate.
REFERENCE   2  (bases 1 to 7542)
  AUTHORS   Dahimene S, von Elsner L, Holling T, Mattas LS, Pickard J, Lessel D,
            Pilch KS, Kadurin I, Pratt WS, Zhulin IB, Dai H, Hempel M, Ruzhnikov
            MRZ, Kutsche K and Dolphin AC.
  TITLE     Biallelic CACNA2D1 loss-of-function variants cause early-onset
            developmental epileptic encephalopathy
  JOURNAL   Brain 145 (8), 2721-2729 (2022)
   PUBMED   35293990
  REMARK    GeneRIF: Biallelic CACNA2D1 loss-of-function variants cause
            early-onset developmental epileptic encephalopathy.
REFERENCE   3  (bases 1 to 7542)
  AUTHORS   Xiong X, Zhang L, Li Y, Guo S, Chen W, Huang L and Luo Y.
  TITLE     Calcium Channel Subunit alpha2delta-1 as a Potential Biomarker
            Reflecting Illness Severity and Neuroinflammation in Patients with
            Acute Ischemic Stroke
  JOURNAL   J Stroke Cerebrovasc Dis 30 (8), 105874 (2021)
   PUBMED   34049015
  REMARK    GeneRIF: Calcium Channel Subunit alpha2delta-1 as a Potential
            Biomarker Reflecting Illness Severity and Neuroinflammation in
            Patients with Acute Ischemic Stroke.
REFERENCE   4  (bases 1 to 7542)
  AUTHORS   Schleithoff L, Mehrke G, Reutlinger B and Lehmann-Horn F.
  TITLE     Genomic structure and functional expression of a human
            alpha(2)/delta calcium channel subunit gene (CACNA2)
  JOURNAL   Genomics 61 (2), 201-209 (1999)
   PUBMED   10534405
REFERENCE   5  (bases 1 to 7542)
  AUTHORS   Iles DE, Lehmann-Horn F, Scherer SW, Tsui LC, Olde Weghuis D,
            Suijkerbuijk RF, Heytens L, Mikala G, Schwartz A, Ellis FR et al.
  TITLE     Localization of the gene encoding the alpha 2/delta-subunits of the
            L-type voltage-dependent calcium channel to chromosome 7q and
            analysis of the segregation of flanking markers in malignant
            hyperthermia susceptible families
  JOURNAL   Hum Mol Genet 3 (6), 969-975 (1994)
   PUBMED   7951247
REFERENCE   6  (bases 1 to 7542)
  AUTHORS   Powers PA, Scherer SW, Tsui LC, Gregg RG and Hogan K.
  TITLE     Localization of the gene encoding the alpha 2/delta subunit
            (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+
            channel to chromosome 7q21-q22 by somatic cell hybrid analysis
  JOURNAL   Genomics 19 (1), 192-193 (1994)
   PUBMED   8188232
REFERENCE   7  (bases 1 to 7542)
  AUTHORS   Brust PF, Simerson S, McCue AF, Deal CR, Schoonmaker S, Williams ME,
            Velicelebi G, Johnson EC, Harpold MM and Ellis SB.
  TITLE     Human neuronal voltage-dependent calcium channels: studies on
            subunit structure and role in channel assembly
  JOURNAL   Neuropharmacology 32 (11), 1089-1102 (1993)
   PUBMED   8107964
REFERENCE   8  (bases 1 to 7542)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301690
REFERENCE   9  (bases 1 to 7542)
  AUTHORS   Williams ME, Feldman DH, McCue AF, Brenner R, Velicelebi G, Ellis SB
            and Harpold MM.
  TITLE     Structure and functional expression of alpha 1, alpha 2, and beta
            subunits of a novel human neuronal calcium channel subtype
  JOURNAL   Neuron 8 (1), 71-84 (1992)
   PUBMED   1309651
REFERENCE   10  (bases 1 to 7542)
  AUTHORS   Ellis SB, Williams ME, Ways NR, Brenner R, Sharp AH, Leung AT,
            Campbell KP, McKenna E, Koch WJ, Hui A, Schwartz A and Harpold MM.
  TITLE     Sequence and expression of mRNAs encoding the alpha 1 and alpha 2
            subunits of a DHP-sensitive calcium channel
  JOURNAL   Science 241 (4873), 1661-1664 (1988)
   PUBMED   2458626
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.256576.1,
            SRR1660805.49818.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000356860.8/ ENSP00000349320.3
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP258070.1, BC051339.1,
            M76559.1, BG055272.1, AL707206.1, AC006145.2, AL833141.1 and
            AI924415.1.
            On Nov 22, 2018 this sequence version replaced NM_000722.3.
            Summary: The preproprotein encoded by this gene is cleaved into
            multiple chains that comprise the alpha-2 and delta subunits of the
            voltage-dependent calcium channel complex. Calcium channels mediate
            the influx of calcium ions into the cell upon membrane
            polarization. Mutations in this gene can cause cardiac
            deficiencies, including Brugada syndrome and short QT syndrome.
            Alternate splicing results in multiple transcript variants, some of
            which may lack the delta subunit portion. [provided by RefSeq, Nov
            2014].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7542
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.11"
     gene            1..7542
                     /gene="CACNA2D1"
                     /gene_synonym="CACNA2; CACNL2A; CCHL2A; DEE110; LINC01112;
                     lncRNA-N3"
                     /note="calcium voltage-gated channel auxiliary subunit
                     alpha2delta 1"
                     /db_xref="GeneID:781"
                     /db_xref="HGNC:HGNC:1399"
                     /db_xref="MIM:114204"
     misc_feature    301..303
                     /gene="CACNA2D1"
                     /gene_synonym="CACNA2; CACNL2A; CCHL2A; DEE110; LINC01112;
                     lncRNA-N3"
                     /note="upstream in-frame stop codon"
     CDS             319..3594
                     /gene="CACNA2D1"
                     /gene_synonym="CACNA2; CACNL2A; CCHL2A; DEE110; LINC01112;
                     lncRNA-N3"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; calcium channel, L type, alpha 2 polypeptide;
                     dihydropyridine-sensitive L-type, calcium channel
                     alpha-2/delta subunit; voltage-gated calcium channel
                     subunit alpha-2/delta-1; calcium channel,
                     voltage-dependent, alpha 2/delta subunit 1; alpha2delta-1"
                     /codon_start=1
                     /product="voltage-dependent calcium channel subunit
                     alpha-2/delta-1 isoform 1 preproprotein"
                     /protein_id="NP_000713.2"
                     /db_xref="CCDS:CCDS5598.1"
                     /db_xref="GeneID:781"
                     /db_xref="HGNC:HGNC:1399"
                     /db_xref="MIM:114204"
                     /translation="MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLV
                     TLAKTASGVNQLVDIYEKYQDLYTVEPNNARQLVEIAARDIEKLLSNRSKALVRLALEA
                     EKVQAAHQWREDFASNEVVYYNAKDDLDPEKNDSEPGSQRIKPVFIEDANFGRQISYQH
                     AAVHIPTDIYEGSTIVLNELNWTSALDEVFKKNREEDPSLLWQVFGSATGLARYYPASP
                     WVDNSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLE
                     TLSDDDFVNVASFNSNAQDVSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFA
                     FEQLLNYNVSRANCNKIIMLFTDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPI
                     QWMACENKGYYYEIPSIGAIRINTQEYLDVLGRPMVLAGDKAKQVQWTNVYLDALELGL
                     VITGTLPVFNITGQFENKTNLKNQLILGVMGVDVSLEDIKRLTPRFTLCPNGYYFAIDP
                     NGYVLLHPNLQPKNPKSQEPVTLDFLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQ
                     DERYIDKGNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARSKKGKMKDSET
                     LKPDNFEESGYTFIAPRDYCNDLKISDNNTEFLLNFNEFIDRKTPNNPSCNADLINRVL
                     LDAGFTNELVQNYWSKQKNIKGVKARFVVTDGGITRVYPKEAGENWQENPETYEDSFYK
                     RSLDNDNYVFTAPYFNKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIEN
                     FTKTSIRDPCAGPVCDCKRNSDVMDCVILDDGGFLLMANHDDYTNQIGRFFGEIDPSLM
                     RHLVNISVYAFNKSYDYQSVCEPGAAPKQGAGHRSAYVPSVADILQIGWWATAAAWSIL
                     QQFLLSLTFPRLLEAVEMEDDDFTASLSKQSCITEQTQYFFDNDSKSFSGVLDCGNCSR
                     IFHGEKLMNTNLIFIMVESKGTCPCDTRLLIQAEQTSDGPNPCDMVKQPRYRKGPDVCF
                     DNNVLEDYTDCGGVSGLNPSLWYIIGIQFLLLWLVSGSTHRLL"
     sig_peptide     319..390
                     /gene="CACNA2D1"
                     /gene_synonym="CACNA2; CACNL2A; CCHL2A; DEE110; LINC01112;
                     lncRNA-N3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      7518..7523
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNA2D1"
                     /gene_synonym="CACNA2; CACNL2A; CCHL2A; DEE110; LINC01112;
                     lncRNA-N3"
                     /note="hexamer: AATAAA"
     polyA_site      7542
                     /gene="CACNA2D1"
                     /gene_synonym="CACNA2; CACNL2A; CCHL2A; DEE110; LINC01112;
                     lncRNA-N3"
                     /note="major polyA site"
ORIGIN
        1 agcgagagcg cgcgagcgcc ggcgggctcg ccgaggtctg tttccaaagt cgcccttgat
       61 ggcggcggag gcaaggcggc cgcggcgcgg agcagccgac gcacgctagt gggtccgccc
      121 gccaccgccc cttcctcggc gtccgctccc gcccttgccg tcccccgcgc ggctccgcgc
      181 ctcgggcccc gggcgcagcc agccctccag acgcccgcgg tcccggcggc gtgtgctgct
      241 cttcctccgc ccgcggtttc cagcgccgct ccttcccccg cttgggcagg gagggggcat
      301 tgatcttcga tcgcgaagat ggctgctggc tgcctgctgg ccttgactct gacacttttc
      361 caatctttgc tcatcggccc ctcgtcggag gagccgttcc cttcggccgt cactatcaaa
      421 tcatgggtgg ataagatgca agaagacctt gtcacactgg caaaaacagc aagtggagtc
      481 aatcagcttg ttgatattta tgagaaatat caagatttgt atactgtgga accaaataat
      541 gcacgccagc tggtagaaat tgcagccagg gatattgaga aacttctgag caacagatct
      601 aaagccctgg tgcgcctggc attggaagcg gagaaagttc aagcagctca ccagtggaga
      661 gaagattttg caagcaatga agttgtctac tacaatgcaa aggatgatct cgatcctgag
      721 aaaaatgaca gtgagccagg cagccagagg ataaaacctg ttttcattga agatgctaat
      781 tttggacgac aaatatctta tcagcacgca gcagtccata ttcctactga catctatgag
      841 ggctcaacaa ttgtgttaaa tgaactcaac tggacaagtg ccttagatga agttttcaaa
      901 aagaatcgcg aggaagaccc ttcattattg tggcaggttt ttggcagtgc cactggccta
      961 gctcgatatt atccagcttc accatgggtt gataatagta gaactccaaa taagattgac
     1021 ctttatgatg tacgcagaag accatggtac atccaaggag ctgcatctcc taaagacatg
     1081 cttattctgg tggatgtgag tggaagtgtt agtggattga cacttaaact gatccgaaca
     1141 tctgtctccg aaatgttaga aaccctctca gatgatgatt tcgtgaatgt agcttcattt
     1201 aacagcaatg ctcaggatgt aagctgtttt cagcaccttg tccaagcaaa tgtaagaaat
     1261 aaaaaagtgt tgaaagacgc ggtgaataat atcacagcca aaggaattac agattataag
     1321 aagggcttta gttttgcttt tgaacagctg cttaattata atgtttccag agcaaactgc
     1381 aataagatta ttatgctatt cacggatgga ggagaagaga gagcccagga gatatttaac
     1441 aaatacaata aagataaaaa agtacgtgta ttcacgtttt cagttggtca acacaattat
     1501 gacagaggac ctattcagtg gatggcctgt gaaaacaaag gttattatta tgaaattcct
     1561 tccattggtg caataagaat caatactcag gaatatttgg atgttttggg aagaccaatg
     1621 gttttagcag gagacaaagc taagcaagtc caatggacaa atgtgtacct ggatgcattg
     1681 gaactgggac ttgtcattac tggaactctt ccggtcttca acataaccgg ccaatttgaa
     1741 aataagacaa acttaaagaa ccagctgatt cttggtgtga tgggagtaga tgtgtctttg
     1801 gaagatatta aaagactgac accacgtttt acactgtgcc ccaatgggta ttactttgca
     1861 atcgatccta atggttatgt tttattacat ccaaatcttc agccaaagaa ccccaaatct
     1921 caggagccag taacattgga tttccttgat gcagagttag agaatgatat taaagtggag
     1981 attcgaaata agatgattga tggggaaagt ggagaaaaaa cattcagaac tctggttaaa
     2041 tctcaagatg agagatatat tgacaaagga aacaggacat acacatggac acctgtcaat
     2101 ggcacagatt acagtttggc cttggtatta ccaacctaca gtttttacta tataaaagcc
     2161 aaactagaag agacaataac tcaggccaga tcaaaaaagg gcaaaatgaa ggattcggaa
     2221 accctgaagc cagataattt tgaagaatct ggctatacat tcatagcacc aagagattac
     2281 tgcaatgacc tgaaaatatc ggataataac actgaatttc ttttaaattt caacgagttt
     2341 attgatagaa aaactccaaa caacccatca tgtaacgcgg atttgattaa tagagtcttg
     2401 cttgatgcag gctttacaaa tgaacttgtc caaaattact ggagtaagca gaaaaatatc
     2461 aagggagtga aagcacgatt tgttgtgact gatggtggga ttaccagagt ttatcccaaa
     2521 gaggctggag aaaattggca agaaaaccca gagacatatg aggacagctt ctataaaagg
     2581 agcctagata atgataacta tgttttcact gctccctact ttaacaaaag tggacctggt
     2641 gcctatgaat cgggcattat ggtaagcaaa gctgtagaaa tatatattca agggaaactt
     2701 cttaaacctg cagttgttgg aattaaaatt gatgtaaatt cctggataga gaatttcacc
     2761 aaaacctcaa tcagagatcc gtgtgctggt ccagtttgtg actgcaaaag aaacagtgac
     2821 gtaatggatt gtgtgattct ggatgatggt gggtttcttc tgatggcaaa tcatgatgat
     2881 tatactaatc agattggaag attttttgga gagattgatc ccagcttgat gagacacctg
     2941 gttaatatat cagtttatgc ttttaacaaa tcttatgatt atcagtcagt atgtgagccc
     3001 ggtgctgcac caaaacaagg agcaggacat cgctcagcat atgtgccatc agtagcagac
     3061 atattacaaa ttggctggtg ggccactgct gctgcctggt ctattctaca gcagtttctc
     3121 ttgagtttga cctttccacg actccttgag gcagttgaga tggaggatga tgacttcacg
     3181 gcctccctgt ccaagcagag ctgcattact gaacaaaccc agtatttctt cgataacgac
     3241 agtaaatcat tcagtggtgt attagactgt ggaaactgtt ccagaatctt tcatggagaa
     3301 aagcttatga acaccaactt aatattcata atggttgaga gcaaagggac atgtccatgt
     3361 gacacacgac tgctcataca agcggagcag acttctgacg gtccaaatcc ttgtgacatg
     3421 gttaagcaac ccagataccg aaaagggcct gatgtctgct ttgataacaa tgtcttggag
     3481 gattatactg actgtggtgg tgtttctgga ttaaatccct ccctgtggta tatcattgga
     3541 atccagtttc tactactttg gctggtatct ggcagcacac accgcctgtt atgaccttct
     3601 aaaaaccaaa tctgcatagt taaactccag accctgccaa aacatgagcc ctgccctcaa
     3661 ttacagtaac gtagggtcag ctataaaatc agacaaacat tagctgggcc tgttccatgg
     3721 cataacacta aggcgcagac tcctaaggca cccactggct gcatgtcagg gtgtcagatc
     3781 cttaaacgtg tgtgaatgct gcatcatcta tgtgtaacat caaagcaaaa tcctatacgt
     3841 gtcctctatt ggaaaatttg ggagtttgtt gttgcattgt tggtgattac atgtgaaagg
     3901 gttccccata caattgttaa tgaaccataa gaaatgtctt gatattgacc tggaattttg
     3961 acttgctgca attttactaa gaaaatctct aaggggaaag aaattatttt tgccttcact
     4021 ttttcttctg tgaaaagtta attcctgctt taagtagcaa ttattgaaat atatagagaa
     4081 agagagaatt aacattggtc taaattgttg aaatataaat aatggctaat tttctatgaa
     4141 aaatttgcca tgaataaaat gccttatgaa gaacggcttc tttgccaaaa ataaaacaca
     4201 attgatgacc aattcaattt tgatggggta atgaattgat ggtttgaaaa tagtaactaa
     4261 gaaattatta aactaaaggt gcttgaggga gaaattagaa tatgtgacat atttcctcat
     4321 aaatgtaagc aagcccttaa taaatgcttt gatgtaatgt tccttttgtt cacagtacag
     4381 ttatgtagtg ctagccagat atttaaaaat gctctaagaa aagcttgtca ggggggaggg
     4441 ggaaatgttt ttcttgtgat aaatgaactt tggtttacca agggtatttt gcatgatgct
     4501 gctgctattt taacttttca gttgtttttt ctcttactgt agagtgtagt cattgaaaag
     4561 ttaactgagt gatattgtta tgtaagaatc tgaaccttgc agtgtaaatg cacttaagtc
     4621 atctttaaaa tgttgttaaa ctactctgaa tatactgtgc aatgtaaatg ctgaatgatt
     4681 ggggttagat aaatggtgaa atgagaatta atgaatttta tacagattca tgctttcgcc
     4741 tgataaccta tgtacagata ttttaagtac ataaatcaga tttgacacat ttattttttg
     4801 aaaagtacat atatgttctc aatgaagatt catcctaggt ttcctctttg ttcgtttcaa
     4861 tagtagcaca tacaatccaa aagttcctgc tactgctgct tttgcccttc cattttaaat
     4921 ggtatgatcg tttggccaaa atttccatgc aagttgataa gggttttaca ataatctgaa
     4981 caaataggaa accttgaatc tctatgtatg cacatgaata cttgattgtg aataataaaa
     5041 gttgtttttt atacagcctc attggtgaaa atggttagtg tagtaaatca gatatttcat
     5101 tatagactaa tatggtagca gattatttat gcttttaaaa attattttct ggagcaaaca
     5161 gtatttgaag aaaaggtaaa aactatgaat gtgtaattct aagaatagtt aataatttta
     5221 ctgaaggctg aacgtatgta gatatttttt atgataaaat gcagtttttc tttttttgga
     5281 acatgccaat tactggtatg tgtatatgct ggaaattttc ttacatatcc tttttaagtc
     5341 aaagttatta acattatcca gcatgcttta atatgctcca catatcaaag atataaccaa
     5401 taatttaacg tagcttaaaa gataacattt gttttgtttt tagctttgca tacatttgta
     5461 attccctccc accaccaata taccttaggt accatttgtg tacatttcaa gatttttttt
     5521 ttcaataaaa aggtgggggg aaatggaatc actttgccaa ctattgttct aagagttgac
     5581 atcagttacc atttctaatg cattgttgtg attttgtagt gtcattcata actggtattg
     5641 acattttaga aaacaccaaa gtgatttaaa atatatgtgg ggaaaaaaac ttctcactct
     5701 agtaacaatg ttttaatcat gttgtttgtt aaatatttaa aagttattgt tcaatttttg
     5761 ctagactatc ttaaatcatg atagtgttgg gaagggggta tcaaaatata aaattgttag
     5821 tttgtgtata taaacaatgc acattaaaac aattgaattg cttccagcat acaacaaact
     5881 accttaaaat tatgttcaaa atctattaaa tatattttca tggctaatgt cgagtatatg
     5941 ttttcatcaa ttacattgtt attgtattaa tcgcggttaa acttggcatc tcttggcagg
     6001 atcctattta atttctgttg ccatcaaaat atatttatat gcatgagttt tgctataaac
     6061 ctttattttc tgctataaag ttatatatta tgacaaccat aaatgcaatt acaaattggg
     6121 taagaacaag ctgaataaaa gttgttccca tgactaatat tagtcttcat gcttttagca
     6181 tattttttaa gacagtaaca ctcatcccat caaattatta cattacattt agtatttttc
     6241 tgagttacat tgacaagaac ttaaattata gcctgttatt aatattgatt tccaacgact
     6301 gaacagtaca acagatcaat aaaaaagttt atacactgct ttaactaatt tttgttatac
     6361 tcatgtggct tagtgtagtt agtcactaaa acagagttca agtgagcttg gcaatggtgt
     6421 tgagtaacaa gaaagaattt tgcattaatg atttcttttt attttcctca tttaaacaac
     6481 cagcattact gccaaacacc aaccgtggtc catatttgta acaggttttt aacatgacat
     6541 agttagcaag tttgattgaa gagattttta ggtcctgggc ctataagatt ttagtatgat
     6601 cttttttcat gtttctaatg cttgaggtgt tactgcttaa cttgggaaaa aaaaaaacaa
     6661 aaaacagtgt tcctgccatt tgtaagtttt cctataatat tccttttatt aactttaaaa
     6721 ctggacttat cgggttcaaa taggcagtat cccttttaag tgacctttgc aacccaagtg
     6781 ttacttgctt atttgatgct ctcttgtatt ttaaatctca tttaaatctt tgtctgtgac
     6841 caacaaagct taagattttg tcttcattta aaactctgaa tctattccat tgatcatgtt
     6901 agacgttcaa atgtttaatg gtatagtctg acctagtgaa acaaaatgga tgttgttact
     6961 ttttttaaag aatagaatga aataactatt tcacttgccc aaaattttaa atattttttc
     7021 atctaaactt gtattgtttc ccatagcaga atgtcaatat tcacagtaca tttctgtaaa
     7081 gagcaaacca atataatgtt ttgagtgttg aaaaaaattc cagatttttg aagaattaga
     7141 caactcttca tctaccttat ttctagttca cacagttatc tcaaattcca ctgaaactaa
     7201 tgggatactg tcttgtgtag atgccagttg agtttataat gtgacctagt aaagctgtct
     7261 tttttgttgt gttgtatgag tgtcggatca tgcttttagg aatactttta ttaaaatggt
     7321 gtgcattcat gcaaaaggcc aactggcttt tgtgaacaat agatcttttc tcccctttat
     7381 tttgttctct tgacactttt gtgaaaatta cctagcctga taaaaacatt ttgtaaaaat
     7441 ttgtataata ctgttataaa atatttataa tcccagaaaa tgttgtgtta aatcttgtgc
     7501 aaaaacagta tattcagaat aaaagtttat catttaaagt ca
//
LOCUS       NM_000723               3711 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens calcium voltage-gated channel auxiliary subunit beta 1
            (CACNB1), transcript variant 1, mRNA.
ACCESSION   NM_000723
VERSION     NM_000723.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3711)
  AUTHORS   Despang P, Salamon S, Breitenkamp A, Kuzmenkina E and Matthes J.
  TITLE     Inhibitory effects on L- and N-type calcium channels by a novel
            CaVbeta1 variant identified in a patient with autism spectrum
            disorder
  JOURNAL   Naunyn Schmiedebergs Arch Pharmacol 395 (4), 459-470 (2022)
   PUBMED   35122502
REFERENCE   2  (bases 1 to 3711)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3711)
  AUTHORS   Perez CF, Eltit JM, Lopez JR, Bodnar D, Dulhunty AF, Aditya S and
            Casarotto MG.
  TITLE     Functional and structural characterization of a novel malignant
            hyperthermia-susceptible variant of DHPR-beta1a subunit (CACNB1)
  JOURNAL   Am J Physiol Cell Physiol 314 (3), C323-C333 (2018)
   PUBMED   29212769
  REMARK    GeneRIF: Data show that mutant variant V156A results in instability
            of protein subdomains of beta1a subunit leading to a phenotype of
            Ca(2+) dysregulation that partly resembles that of other malignant
            hypertension-linked mutations of DHPR alpha1S subunit.
REFERENCE   4  (bases 1 to 3711)
  AUTHORS   Mahalingam M, Perez CF and Fessenden JD.
  TITLE     Fluorescence Resonance Energy Transfer-based Structural Analysis of
            the Dihydropyridine Receptor alpha1S Subunit Reveals Conformational
            Differences Induced by Binding of the beta1a Subunit
  JOURNAL   J Biol Chem 291 (26), 13762-13770 (2016)
   PUBMED   27129199
  REMARK    GeneRIF: These results provide new insights into the role of
            muscle-specific proteins on the structural arrangement of alpha1S
            intracellular loops and point to a new conformational effect of the
            beta1a subunit in supporting skeletal muscle excitation-contraction
            coupling.
REFERENCE   5  (bases 1 to 3711)
  AUTHORS   Lauc G, Huffman JE, Pucic M, Zgaga L, Adamczyk B, Muzinic A,
            Novokmet M, Polasek O, Gornik O, Kristic J, Keser T, Vitart V,
            Scheijen B, Uh HW, Molokhia M, Patrick AL, McKeigue P, Kolcic I,
            Lukic IK, Swann O, van Leeuwen FN, Ruhaak LR, Houwing-Duistermaat
            JJ, Slagboom PE, Beekman M, de Craen AJ, Deelder AM, Zeng Q, Wang W,
            Hastie ND, Gyllensten U, Wilson JF, Wuhrer M, Wright AF, Rudd PM,
            Hayward C, Aulchenko Y, Campbell H and Rudan I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet 9 (1), e1003225 (2013)
   PUBMED   23382691
REFERENCE   6  (bases 1 to 3711)
  AUTHORS   Collin T, Wang JJ, Nargeot J and Schwartz A.
  TITLE     Molecular cloning of three isoforms of the L-type voltage-dependent
            calcium channel beta subunit from normal human heart
  JOURNAL   Circ Res 72 (6), 1337-1344 (1993)
   PUBMED   7916667
REFERENCE   7  (bases 1 to 3711)
  AUTHORS   Powers PA, Liu S, Hogan K and Gregg RG.
  TITLE     Skeletal muscle and brain isoforms of a beta-subunit of human
            voltage-dependent calcium channels are encoded by a single gene
  JOURNAL   J Biol Chem 267 (32), 22967-22972 (1992)
   PUBMED   1385409
REFERENCE   8  (bases 1 to 3711)
  AUTHORS   Perez-Reyes E, Castellano A, Kim HS, Bertrand P, Baggstrom E,
            Lacerda AE, Wei XY and Birnbaumer L.
  TITLE     Cloning and expression of a cardiac/brain beta subunit of the L-type
            calcium channel
  JOURNAL   J Biol Chem 267 (3), 1792-1797 (1992)
   PUBMED   1370480
REFERENCE   9  (bases 1 to 3711)
  AUTHORS   Williams ME, Feldman DH, McCue AF, Brenner R, Velicelebi G, Ellis SB
            and Harpold MM.
  TITLE     Structure and functional expression of alpha 1, alpha 2, and beta
            subunits of a novel human neuronal calcium channel subtype
  JOURNAL   Neuron 8 (1), 71-84 (1992)
   PUBMED   1309651
REFERENCE   10  (bases 1 to 3711)
  AUTHORS   Pragnell M, Sakamoto J, Jay SD and Campbell KP.
  TITLE     Cloning and tissue-specific expression of the brain calcium channel
            beta-subunit
  JOURNAL   FEBS Lett 291 (2), 253-258 (1991)
   PUBMED   1657644
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M92303.1, AK289729.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000394303.8/ ENSP00000377840.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK289729.1, BC037311.1 and
            AC004408.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000723.4.
            Summary: The protein encoded by this gene belongs to the calcium
            channel beta subunit family. It plays an important role in the
            calcium channel by modulating G protein inhibition, increasing peak
            calcium current, controlling the alpha-1 subunit membrane targeting
            and shifting the voltage dependence of activation and inactivation.
            Alternative splicing occurs at this locus and three transcript
            variants encoding three distinct isoforms have been identified.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1), also known as beta-1b2,
            betaA, and beta-1B, encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3711
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..3711
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="calcium voltage-gated channel auxiliary subunit beta
                     1"
                     /db_xref="GeneID:782"
                     /db_xref="HGNC:HGNC:1401"
                     /db_xref="MIM:114207"
     misc_feature    124..126
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="upstream in-frame stop codon"
     CDS             175..1971
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dihydropyridine-sensitive L-type, calcium channel beta-1
                     subunit; calcium channel, voltage-dependent, beta 1
                     subunit; calcium channel, L type, beta 1 polypeptide;
                     voltage-dependent L-type calcium channel subunit beta-1;
                     calcium channel voltage-dependent subunit beta 1"
                     /codon_start=1
                     /product="voltage-dependent L-type calcium channel subunit
                     beta-1 isoform 1"
                     /protein_id="NP_000714.3"
                     /db_xref="CCDS:CCDS42311.1"
                     /db_xref="GeneID:782"
                     /db_xref="HGNC:HGNC:1401"
                     /db_xref="MIM:114207"
                     /translation="MVQKTSMSRGPYPPSQEIPMEVFDPSPQGKYSKRKGRFKRSDGST
                     SSDTTSNSFVRQGSAESYTSRPSDSDVSLEEDREALRKEAERQALAQLEKAKTKPVAFA
                     VRTNVGYNPSPGDEVPVQGVAITFEPKDFLHIKEKYNNDWWIGRLVKEGCEVGFIPSPV
                     KLDSLRLLQEQKLRQNRLGSSKSGDNSSSSLGDVVTGTRRPTPPASAKQKQKSTEHVPP
                     YDVVPSMRPIILVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVL
                     NNPSKHIIIERSNTRSSLAEVQSEIERIFELARTLQLVALDADTINHPAQLSKTSLAPI
                     IVYIKITSPKVLQRLIKSRGKSQSKHLNVQIAASEKLAQCPPEMFDIILDENQLEDACE
                     HLAEYLEAYWKATHPPSSTPPNPLLNRTMATAALAASPAPVSNLQGPYLASGDQPLERA
                     TGEHASMHEYPGELGQPPGLYPSSHPPGRAGTLRALSRQDTFDADTPGSRNSAYTELGD
                     SCVDMETDPSEGPGLGDPAGGGTPPARQGSWEDEEEDYEEELTDNRNRGRNKARYCAEG
                     GGPVLGRNKNELEGWGRGVYIR"
     misc_feature    175..402
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02641.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    304..306
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P54283; propagated from
                     UniProtKB/Swiss-Prot (Q02641.3); phosphorylation site"
     misc_feature    313..315
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P54283; propagated from
                     UniProtKB/Swiss-Prot (Q02641.3); phosphorylation site"
     misc_feature    391..393
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P54283; propagated from
                     UniProtKB/Swiss-Prot (Q02641.3); phosphorylation site"
     misc_feature    709..843
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02641.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    730..732
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8R3Z5; propagated from
                     UniProtKB/Swiss-Prot (Q02641.3); phosphorylation site"
     misc_feature    751..753
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P54283; propagated from
                     UniProtKB/Swiss-Prot (Q02641.3); phosphorylation site"
     misc_feature    1570..1644
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02641.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1669..1671
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8R3Z5; propagated from
                     UniProtKB/Swiss-Prot (Q02641.3); phosphorylation site"
     misc_feature    1726..1941
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02641.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1813..1815
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8R3Z5; propagated from
                     UniProtKB/Swiss-Prot (Q02641.3); phosphorylation site"
     regulatory      3339..3344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="hexamer: TATAAA"
     polyA_site      3363
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="major polyA site"
     regulatory      3497..3502
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="hexamer: AAGAAA"
     polyA_site      3516
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
     regulatory      3689..3694
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="hexamer: AATACA"
     polyA_site      3711
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
ORIGIN
        1 agtggagaga gcgggaggag cgagggaagg caggaaggag gcagccgaag gccgagctgg
       61 gtggctggac cgggtgctgg ctgcgccgcg ctgctttcgg ctcccacggc ctctcccatg
      121 cgctgaggga gcccggctgg gccgggccgg cggcgggagg ggaggctcct ctccatggtc
      181 cagaagacca gcatgtcccg gggcccttac ccaccctccc aggagatccc catggaggtc
      241 ttcgacccca gcccgcaggg caaatacagc aagaggaaag ggcgattcaa acggtcagat
      301 gggagcacgt cctcggatac cacatccaac agctttgtcc gccagggctc agcggagtcc
      361 tacaccagcc gtccatcaga ctctgatgta tctctggagg aggaccggga agccttaagg
      421 aaggaagcag agcgccaggc attagcgcag ctcgagaagg ccaagaccaa gccagtggca
      481 tttgctgtgc ggacaaatgt tggctacaat ccgtctccag gggatgaggt gcctgtgcag
      541 ggagtggcca tcaccttcga gcccaaagac ttcctgcaca tcaaggagaa atacaataat
      601 gactggtgga tcgggcggct ggtgaaggag ggctgtgagg ttggcttcat tcccagcccc
      661 gtcaaactgg acagccttcg cctgctgcag gaacagaagc tgcgccagaa ccgcctcggc
      721 tccagcaaat caggcgataa ctccagttcc agtctgggag atgtggtgac tggcacccgc
      781 cgccccacac cccctgccag tgccaaacag aagcagaagt cgacagagca tgtgcccccc
      841 tatgacgtgg tgccttccat gaggcccatc atcctggtgg gaccgtcgct caagggctac
      901 gaggttacag acatgatgca gaaagcttta tttgacttct tgaagcatcg gtttgatggc
      961 aggatctcca tcactcgtgt gacggcagat atttccctgg ctaagcgctc agttctcaac
     1021 aaccccagca aacacatcat cattgagcgc tccaacacac gctccagcct ggctgaggtg
     1081 cagagtgaaa tcgagcgaat cttcgagctg gcccggaccc ttcagttggt cgctctggat
     1141 gctgacacca tcaatcaccc agcccagctg tccaagacct cgctggcccc catcattgtt
     1201 tacatcaaga tcacctctcc caaggtactt caaaggctca tcaagtcccg aggaaagtct
     1261 cagtccaaac acctcaatgt ccaaatagcg gcctcggaaa agctggcaca gtgcccccct
     1321 gaaatgtttg acatcatcct ggatgagaac caattggagg atgcctgcga gcatctggcg
     1381 gagtacttgg aagcctattg gaaggccaca cacccgccca gcagcacgcc acccaatccg
     1441 ctgctgaacc gcaccatggc taccgcagcc ctggctgcca gccctgcccc tgtctccaac
     1501 ctccagggac cctaccttgc ttccggggac cagccactgg aacgggccac cggggagcac
     1561 gccagcatgc acgagtaccc aggggagctg ggccagcccc caggccttta ccccagcagc
     1621 cacccaccag gccgggcagg cacgctacgg gcactgtccc gccaagacac ttttgatgcc
     1681 gacacccccg gcagccgaaa ctctgcctac acggagctgg gagactcatg tgtggacatg
     1741 gagactgacc cctcagaggg gccagggctt ggagaccctg cagggggcgg cacgccccca
     1801 gcccgacagg gatcctggga ggacgaggaa gaagactatg aggaagagct gaccgacaac
     1861 cggaaccggg gccggaataa ggcccgctac tgcgctgagg gtgggggtcc agttttgggg
     1921 cgcaacaaga atgagctgga gggctgggga cgaggcgtct acattcgctg agaggcaggg
     1981 gccacacggc gggaggaagg gctctgagcc caggggaggg gagggagcga ggggctcaca
     2041 cctgacatgt attcgcctcc agggggcgct gtctccctcc tttcagatgc ctttgctcaa
     2101 agcttggggt ttctttggtg ttaccatccc agctcccggg aggcccttaa gccccagctg
     2161 tcggttttta cctgcctgtt gtggatggat gggggatacc cacctttctg aagtgtcccc
     2221 tttctcccat cttaaggggc tctcctccct caccctccta gagaaaaggt gcacttcctt
     2281 aactctttct actcggggcc ctaagtgacg gtcctaagtg ggatggctct ccttctccca
     2341 agctgcagta ctggggaagg gctgggcgct tttcctggaa agggaggcca cagattcttt
     2401 cccatggggg ctctcttccc cagaccccag atccaaggtc cctcaccctg cctgcccctt
     2461 cctcccagct tcctggcagc atcgtctggt cggtgaaagc catagcatgg acaccccatg
     2521 gggagcttgt cttggggagg gttctgggtg gaagctggca ggcatacagc accctctacc
     2581 ctccgtggcc atggcaacgt ccagggccca gaaccctgag gagtgagcgg ccgagacgct
     2641 gctccccacc ccccacctcc atgcctcagc ctttgcctac cccaggaatg agcttggcct
     2701 ccaacatccc ttgcctgctg ccattagtag agggggcccc tctgcatctg agccccccat
     2761 ccctgtgcca cctgggtgtg gagcccatgg aacactctgg tccgcctcat tttaaaccaa
     2821 aaaactgctc cttcaccctc accctgaggc cccaggggag aggacccgtg ggatggtgcc
     2881 caggggttgc cttgggacct cggatctcct ctggggggct tggctgctgc tgttgctgct
     2941 ctgtatttgc ctctcgtgat tctgtttgtt acccatgttc acttccccca ggagaggcct
     3001 tggtaccccc tctcccctgg ggcatccctt tgccttggca tccctgtagc ccagcaaccc
     3061 tgcccctccc cagcatccca gctgggccag agagagccga gtgtgccaac aaggactggg
     3121 gcctgcccgg ctgcccgcct cagggatggg cacctcatgc ctgtctcgcc acctcctgtg
     3181 ccaatgtccc accctccacc tgggggtggg gtgcagcttc cacttactga ttagaagaca
     3241 ccactgccct cccttccccc ctccctgtct ggtgtcctgt gcccccatct gtctgtctat
     3301 atttgtctgt actcccctag gagaagtatt ttgccatata taaaaccact gtcctgtcct
     3361 ttgtggctgc ctcccaagcc tgcttctttg tcctcgccac atagtcgtca gcgtaggcac
     3421 ctgggagctg ctgatatgca cggggagttg aaagggtggg tgcctgaaga tgttgtgccc
     3481 tgagtcattg actcaaaaga aaagatgatc ctttgatttt ggccctctga tgtattgtgc
     3541 ccaagccagg agctgcttgg gcagtcccag ctccacactg gccctgagcc ccttcactta
     3601 cctgtctctc cacaagtaga gccaaaggca atgggaagct caatgttgct cagtgggtga
     3661 gatccagacc cactggtgca atgtcttaaa tacacatgac tgtttttctg c
//
LOCUS       NM_000725               2931 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens calcium voltage-gated channel auxiliary subunit beta 3
            (CACNB3), transcript variant 1, mRNA.
ACCESSION   NM_000725
VERSION     NM_000725.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2931)
  AUTHORS   Chen Z, Mondal A, Abderemane-Ali F, Jang S, Niranjan S, Montano JL,
            Zaro BW and Minor DL Jr.
  TITLE     EMC chaperone-CaV structure reveals an ion channel assembly
            intermediate
  JOURNAL   Nature 619 (7969), 410-419 (2023)
   PUBMED   37196677
  REMARK    GeneRIF: EMC chaperone-CaV structure reveals an ion channel assembly
            intermediate.
REFERENCE   2  (bases 1 to 2931)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2931)
  AUTHORS   Bourdin B, Shakeri B, Tetreault MP, Sauve R, Lesage S and Parent L.
  TITLE     Functional characterization of CaValpha2delta mutations associated
            with sudden cardiac death
  JOURNAL   J Biol Chem 290 (5), 2854-2869 (2015)
   PUBMED   25527503
REFERENCE   4  (bases 1 to 2931)
  CONSRTM   Psychiatric GWAS Consortium Bipolar Disorder Working Group
  TITLE     Large-scale genome-wide association analysis of bipolar disorder
            identifies a new susceptibility locus near ODZ4
  JOURNAL   Nat Genet 43 (10), 977-983 (2011)
   PUBMED   21926972
  REMARK    Erratum:[Nat Genet. 2012 Sep;44(9):1072. Fullerton, Janice M
            [added]; Hyoun, Phil L [corrected to Lee, Phil H]; Meng, Fan Guo
            [corrected to Meng, Fan]] Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2931)
  AUTHORS   Zhang Y, Yamada Y, Fan M, Bangaru SD, Lin B and Yang J.
  TITLE     The beta subunit of voltage-gated Ca2+ channels interacts with and
            regulates the activity of a novel isoform of Pax6
  JOURNAL   J Biol Chem 285 (4), 2527-2536 (2010)
   PUBMED   19917615
  REMARK    GeneRIF: in the presence of Pax6(S), beta(3) is translocated from
            the cytoplasm to the nucleus;full-length Ca(v)beta may act directly
            as a transcription regulator independent of its role in regulating
            Ca(2+) channel activity
REFERENCE   6  (bases 1 to 2931)
  AUTHORS   Murakami M, Wissenbach U and Flockerzi V.
  TITLE     Gene structure of the murine calcium channel beta3 subunit, cDNA and
            characterization of alternative splicing and transcription products
  JOURNAL   Eur J Biochem 236 (1), 138-143 (1996)
   PUBMED   8617257
REFERENCE   7  (bases 1 to 2931)
  AUTHORS   Scott VE, De Waard M, Liu H, Gurnett CA, Venzke DP, Lennon VA and
            Campbell KP.
  TITLE     Beta subunit heterogeneity in N-type Ca2+ channels
  JOURNAL   J Biol Chem 271 (6), 3207-3212 (1996)
   PUBMED   8621722
REFERENCE   8  (bases 1 to 2931)
  AUTHORS   Yamada Y, Masuda K, Li Q, Ihara Y, Kubota A, Miura T, Nakamura K,
            Fujii Y, Seino S and Seino Y.
  TITLE     The structures of the human calcium channel alpha 1 subunit
            (CACNL1A2) and beta subunit (CACNLB3) genes
  JOURNAL   Genomics 27 (2), 312-319 (1995)
   PUBMED   7557998
REFERENCE   9  (bases 1 to 2931)
  AUTHORS   Collin T, Lory P, Taviaux S, Courtieu C, Guilbault P, Berta P and
            Nargeot J.
  TITLE     Cloning, chromosomal location and functional expression of the human
            voltage-dependent calcium-channel beta 3 subunit
  JOURNAL   Eur J Biochem 220 (1), 257-262 (1994)
   PUBMED   8119293
REFERENCE   10  (bases 1 to 2931)
  AUTHORS   Rosenfeld MR, Wong E, Dalmau J, Manley G, Posner JB, Sher E and
            Furneaux HM.
  TITLE     Cloning and characterization of a Lambert-Eaton myasthenic syndrome
            antigen
  JOURNAL   Ann Neurol 33 (1), 113-120 (1993)
   PUBMED   8494331
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.815854.1,
            SRR1803613.265143.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000301050.7/ ENSP00000301050.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL534844.3, AK289709.1 and
            AC117498.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000725.3.
            Summary: This gene encodes a regulatory beta subunit of the
            voltage-dependent calcium channel. Beta subunits are composed of
            five domains, which contribute to the regulation of surface
            expression and gating of calcium channels and may also play a role
            in the regulation of transcription factors and calcium transport.
            [provided by RefSeq, Oct 2011].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2931
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..2931
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /note="calcium voltage-gated channel auxiliary subunit beta
                     3"
                     /db_xref="GeneID:784"
                     /db_xref="HGNC:HGNC:1403"
                     /db_xref="MIM:601958"
     misc_feature    249..251
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /note="upstream in-frame stop codon"
     CDS             435..1889
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     voltage-dependent L-type calcium channel subunit beta-3;
                     calcium channel, voltage-dependent, beta 3 subunit"
                     /codon_start=1
                     /product="voltage-dependent L-type calcium channel subunit
                     beta-3 isoform 1"
                     /protein_id="NP_000716.2"
                     /db_xref="CCDS:CCDS8769.1"
                     /db_xref="GeneID:784"
                     /db_xref="HGNC:HGNC:1403"
                     /db_xref="MIM:601958"
                     /translation="MYDDSYVPGFEDSEAGSADSYTSRPSLDSDVSLEEDRESARREVE
                     SQAQQQLERAKHKPVAFAVRTNVSYCGVLDEECPVQGSGVNFEAKDFLHIKEKYSNDWW
                     IGRLVKEGGDIAFIPSPQRLESIRLKQEQKARRSGNPSSLSDIGNRRSPPPSLAKQKQK
                     QAEHVPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADLS
                     LAKRSVLNNPGKRTIIERSSARSSIAEVQSEIERIFELAKSLQLVVLDADTINHPAQLA
                     KTSLAPIIVFVKVSSPKVLQRLIRSRGKSQMKHLTVQMMAYDKLVQCPPESFDVILDEN
                     QLEDACEHLAEYLEVYWRATHHPAPGPGLLGPPSAIPGLQNQQLLGERGEEHSPLERDS
                     LMPSDEASESSRQAWTGSSQRSSRHLEEDYADAYQDLYQPHRQHTSGLPSANGHDPQDR
                     LLAQDSEHNHSDRNWQRNRPWPKDSY"
     misc_feature    435..590
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54284.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    819..944
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54284.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    888..890
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P54287; propagated from
                     UniProtKB/Swiss-Prot (P54284.1); phosphorylation site"
     misc_feature    1017..1469
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54284.1);
                     Region: Mediates interaction with the alpha subunit.
                     /evidence=ECO:0000250|UniProtKB:P54287"
     misc_feature    1593..1886
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /note="propagated from UniProtKB/Swiss-Prot (P54284.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1611..1613
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P54287; propagated from
                     UniProtKB/Swiss-Prot (P54284.1); phosphorylation site"
     regulatory      2912..2917
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /note="hexamer: AATAAA"
     polyA_site      2931
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /note="major polyA site"
ORIGIN
        1 ccccttcctc cccgccgcca cggccccgta ggtgctcggg gacccacctt ccacctagca
       61 cgggttcgtt cccctctccc ggcctggccc gggctccccg gtggccgccg ccccctcgcc
      121 gcccccgcct tctcccgggg agggggtcag gtgggcgggc actattgttg taggagccgg
      181 cgccagattc ctcagccgcg ctcggggtgg gaccggctgg gtttgggggg gtggggtggg
      241 gggagcggtg atctgagctc cgagcagctg gtcttcgcgg ctcgctccct ccttcgcgct
      301 ctctcgctcc ctgccgccgc ccgcagggct gcggggctcg gtggcatctc ccgggcgcgg
      361 cccgcagtcc ttgcccctgc ctccgggccg ctcccgcccc cggcgccgct cgctcccccg
      421 acccggactc ccccatgtat gacgactcct acgtgcccgg gtttgaggac tcggaggcgg
      481 gttcagccga ctcctacacc agccgcccat ctctggactc agacgtctcc ctggaggagg
      541 accgggagag tgcccggcgt gaagtagaga gccaggctca gcagcagctc gaaagggcca
      601 agcacaaacc tgtggcattt gcggtgagga ccaatgtcag ctactgtggc gtactggatg
      661 aggagtgccc agtccagggc tctggagtca actttgaggc caaagatttt ctgcacatta
      721 aagagaagta cagcaatgac tggtggatcg ggcggctagt gaaagagggc ggggacatcg
      781 ccttcatccc cagcccccag cgcctggaga gcatccggct caaacaggag cagaaggcca
      841 ggagatctgg gaacccttcc agcctgagtg acattggcaa ccgacgctcc cctccgccat
      901 ctctagccaa gcagaagcaa aagcaggcgg aacatgttcc cccatatgac gtggtgccct
      961 ccatgcggcc tgtggtgctg gtgggaccct ctctgaaagg ttatgaggtc acagacatga
     1021 tgcagaaggc tctcttcgac ttcctcaaac acagatttga tggcaggatc tccatcaccc
     1081 gagtcacagc cgacctctcc ctggcaaagc gatctgtgct caacaatccg ggcaagagga
     1141 ccatcattga gcgctcctct gcccgctcca gcattgcgga agtgcagagt gagatcgagc
     1201 gcatatttga gctggccaaa tccctgcagc tagtagtgtt ggacgctgac accatcaacc
     1261 acccagcaca gctggccaag acctcgctgg cccccatcat cgtctttgtc aaagtgtcct
     1321 caccaaaggt actccagcgt ctcattcgct cccgggggaa gtcacagatg aagcacctga
     1381 ccgtacagat gatggcatat gataagctgg ttcagtgccc accggagtca tttgatgtga
     1441 ttctggatga gaaccagctg gaggatgcct gtgagcacct ggctgagtac ctggaggttt
     1501 actggcgggc cacgcaccac ccagcccctg gccccggact tctgggtcct cccagtgcca
     1561 tccccggact tcagaaccag cagctgctgg gggagcgtgg cgaggagcac tccccccttg
     1621 agcgggacag cttgatgccc tctgatgagg ccagcgagag ctcccgccaa gcctggacag
     1681 gatcttcaca gcgtagctcc cgccacctgg aggaggacta tgcagatgcc taccaggacc
     1741 tgtaccagcc tcaccgccaa cacacctcgg ggctgcctag tgctaacggg catgaccccc
     1801 aagaccggct tctagcccag gactcagagc acaaccacag tgaccggaac tggcagcgca
     1861 accggccttg gcccaaggat agctactgac agcctcctgc tgccctaccc tggcaggcac
     1921 aggcgcagct ggctgggggg cccactccag gcagggtggc gttagactgg catcaggctg
     1981 gcactaggct cagcccccaa aaccccctgc ccagccccag cttcagggct gcctgtggtc
     2041 ccaaggttct gggagaaaca ggggaccccc tcacctcctg ggcagtgacc cctactaggc
     2101 tcccattcca ggtactagct gtgtgttctg cacccctggc accttcctct cctcccacac
     2161 aggaagctgc cccactgggc agtgccctca ggccaggatc cccttagcag ggtccttccc
     2221 accagactca gggaagggat gccccattaa agtgacaaaa gggtggggtg tgggcaccat
     2281 ggcatgagga agaaacaagg tccctgagca ggcacaagtc ctgacagtca agggactgct
     2341 ttggcatcca gggcctccag tcacctcact gccatacatt agaaatgaga caatcaaagc
     2401 ccccccaggg tggcacaccc atctgtttgc tggggtgtgg cagccacatc caagactgga
     2461 gcagcaggct ggccacgctc gggccagaga gagctcacag ctgaagctct tggagggaag
     2521 ggctctcctc accctgccag gaagcttctt aacatgtgac aggaccaggg accaggagca
     2581 tggtgaagcc aagtggcaga tgggagccaa cctggatggg ggtttgggga aggagggcat
     2641 gtgtagcaga gaacttaggg gggcctcctt gcctttctca ttcttttgcc ctgcatcctg
     2701 tcatttctgt tcttgtccct catacatctt tggagaaccg ggctccagac tttgttccct
     2761 gactcatagc tgccgcttgt taggttaggg ttagatgggg agagacaggg cacagaggac
     2821 ctgtctcccc ggctactctt gccttatggc tctagtgtgt gacctacaga gcatgctcca
     2881 caagcccctg cctcacctca ctgtcatcac taataaacat catgcacagt c
//
LOCUS       NM_000726               7944 bp    mRNA    linear   PRI 18-MAR-2023
DEFINITION  Homo sapiens calcium voltage-gated channel auxiliary subunit beta 4
            (CACNB4), transcript variant 2, mRNA.
ACCESSION   NM_000726
VERSION     NM_000726.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7944)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 7944)
  AUTHORS   Coste de Bagneaux P, von Elsner L, Bierhals T, Campiglio M,
            Johannsen J, Obermair GJ, Hempel M, Flucher BE and Kutsche K.
  TITLE     A homozygous missense variant in CACNB4 encoding the auxiliary
            calcium channel beta4 subunit causes a severe neurodevelopmental
            disorder and impairs channel and non-channel functions
  JOURNAL   PLoS Genet 16 (3), e1008625 (2020)
   PUBMED   32176688
  REMARK    GeneRIF: The homozygous CACNB4 p.(Leu126Pro) variant underlies the
            severe neurological phenotype in the two siblings. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 7944)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human genetic
            disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   4  (bases 1 to 7944)
  AUTHORS   Vendel AC, Terry MD, Striegel AR, Iverson NM, Leuranguer V, Rithner
            CD, Lyons BA, Pickard GE, Tobet SA and Horne WA.
  TITLE     Alternative splicing of the voltage-gated Ca2+ channel beta4 subunit
            creates a uniquely folded N-terminal protein binding domain with
            cell-specific expression in the cerebellar cortex
  JOURNAL   J Neurosci 26 (10), 2635-2644 (2006)
   PUBMED   16525042
REFERENCE   5  (bases 1 to 7944)
  AUTHORS   Helton TD and Horne WA.
  TITLE     Alternative splicing of the beta 4 subunit has alpha1 subunit
            subtype-specific effects on Ca2+ channel gating
  JOURNAL   J Neurosci 22 (5), 1573-1582 (2002)
   PUBMED   11880487
REFERENCE   6  (bases 1 to 7944)
  AUTHORS   Escayg A, Jones JM, Kearney JA, Hitchcock PF and Meisler MH.
  TITLE     Calcium channel beta 4 (CACNB4): human ortholog of the mouse
            epilepsy gene lethargic
  JOURNAL   Genomics 50 (1), 14-22 (1998)
   PUBMED   9628818
REFERENCE   7  (bases 1 to 7944)
  AUTHORS   Burgess DL, Jones JM, Meisler MH and Noebels JL.
  TITLE     Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated
            with ataxia and seizures in the lethargic (lh) mouse
  JOURNAL   Cell 88 (3), 385-392 (1997)
   PUBMED   9039265
REFERENCE   8  (bases 1 to 7944)
  AUTHORS   Diriong S, Lory P, Williams ME, Ellis SB, Harpold MM and Taviaux S.
  TITLE     Chromosomal localization of the human genes for alpha 1A, alpha 1B,
            and alpha 1E voltage-dependent Ca2+ channel subunits
  JOURNAL   Genomics 30 (3), 605-609 (1995)
   PUBMED   8825650
REFERENCE   9  (bases 1 to 7944)
  AUTHORS   Spacey,S.
  TITLE     Episodic Ataxia Type 2 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301674
REFERENCE   10  (bases 1 to 7944)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301317
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.243248.1,
            SRR1660809.12727.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000539935.7/ ENSP00000438949.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079790.6, BC075049.2,
            AC097448.2 and T23939.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 25, 2020 this sequence version replaced NM_000726.4.
            Summary: This gene encodes a member of the beta subunit family of
            voltage-dependent calcium channel complex proteins. Calcium
            channels mediate the influx of calcium ions into the cell upon
            membrane polarization and consist of a complex of alpha-1,
            alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various
            versions of each of these subunits exist, either expressed from
            similar genes or the result of alternative splicing. The protein
            encoded by this locus plays an important role in calcium channel
            function by modulating G protein inhibition, increasing peak
            calcium current, controlling the alpha-1 subunit membrane targeting
            and shifting the voltage dependence of activation and inactivation.
            Certain mutations in this gene have been associated with idiopathic
            generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and
            episodic ataxia, type 5. [provided by RefSeq, Aug 2016].
            Transcript Variant: This variant (2) encodes the longest isoform
            (b). This isoform has a b-type N-terminus.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7944
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q23.3"
     gene            1..7944
                     /gene="CACNB4"
                     /gene_synonym="CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6"
                     /note="calcium voltage-gated channel auxiliary subunit beta
                     4"
                     /db_xref="GeneID:785"
                     /db_xref="HGNC:HGNC:1404"
                     /db_xref="MIM:601949"
     misc_feature    28..30
                     /gene="CACNB4"
                     /gene_synonym="CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6"
                     /note="upstream in-frame stop codon"
     CDS             34..1596
                     /gene="CACNB4"
                     /gene_synonym="CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6"
                     /note="isoform b is encoded by transcript variant 2;
                     dihydropyridine-sensitive L-type, calcium channel beta-4
                     subunit; voltage-dependent L-type calcium channel subunit
                     beta-4; calcium channel voltage-dependent subunit beta 4"
                     /codon_start=1
                     /product="voltage-dependent L-type calcium channel subunit
                     beta-4 isoform b"
                     /protein_id="NP_000717.2"
                     /db_xref="CCDS:CCDS46426.1"
                     /db_xref="GeneID:785"
                     /db_xref="HGNC:HGNC:1404"
                     /db_xref="MIM:601949"
                     /translation="MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSF
                     ILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYC
                     GALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQ
                     QEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPV
                     VLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIE
                     RSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPK
                     VLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYW
                     RATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTS
                     DENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSR
                     HRL"
     misc_feature    34..246
                     /gene="CACNB4"
                     /gene_synonym="CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6"
                     /note="propagated from UniProtKB/Swiss-Prot (O00305.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    148..150
                     /gene="CACNB4"
                     /gene_synonym="CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:D4A055; propagated from
                     UniProtKB/Swiss-Prot (O00305.2); phosphorylation site"
     misc_feature    529..588
                     /gene="CACNB4"
                     /gene_synonym="CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6"
                     /note="propagated from UniProtKB/Swiss-Prot (O00305.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    580..582
                     /gene="CACNB4"
                     /gene_synonym="CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8R0S4; propagated from
                     UniProtKB/Swiss-Prot (O00305.2); phosphorylation site"
     misc_feature    1264..1266
                     /gene="CACNB4"
                     /gene_synonym="CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8R0S4; propagated from
                     UniProtKB/Swiss-Prot (O00305.2); phosphorylation site"
     misc_feature    1306..1593
                     /gene="CACNB4"
                     /gene_synonym="CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6"
                     /note="propagated from UniProtKB/Swiss-Prot (O00305.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1375..1377
                     /gene="CACNB4"
                     /gene_synonym="CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:D4A055; propagated from
                     UniProtKB/Swiss-Prot (O00305.2); phosphorylation site"
     misc_feature    1549..1551
                     /gene="CACNB4"
                     /gene_synonym="CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8R0S4; propagated from
                     UniProtKB/Swiss-Prot (O00305.2); methylation site"
     misc_feature    1555..1557
                     /gene="CACNB4"
                     /gene_synonym="CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:D4A055; propagated from
                     UniProtKB/Swiss-Prot (O00305.2); phosphorylation site"
     regulatory      7926..7931
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNB4"
                     /gene_synonym="CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6"
                     /note="hexamer: AATGAA"
     polyA_site      7944
                     /gene="CACNB4"
                     /gene_synonym="CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6"
                     /note="major polyA site"
ORIGIN
        1 gcacacgggc tggccatgcg gcggctctga acgatgtcct cctcctccta cgccaagaac
       61 gggaccgcgg acgggccgca ctcccccacc tcgcaggtgg cccgaggcac cacaacccgg
      121 aggagcaggt tgaaaagatc cgatggcagc accacttcga ccagcttcat cctcagacag
      181 ggttcagcgg attcctacac aagcaggccg tctgactccg atgtctcttt ggaagaggac
      241 cgggaagcaa ttcgacagga gagagaacag caagcagcta tccagcttga gagagcaaag
      301 tccaaacctg tagcatttgc cgtgaagaca aatgtgagct actgcggcgc cctggacgag
      361 gatgtgcctg ttccaagcac agctatctcc tttgatgcta aagactttct acatattaaa
      421 gagaaatata acaatgattg gtggatagga aggctggtga aagagggctg tgaaattggc
      481 ttcattccaa gtccactcag attggagaac atacggatcc agcaagaaca aaaaagagga
      541 cgttttcacg gagggaaatc aagtggaaat tcttcttcaa gtcttggaga aatggtatct
      601 gggacattcc gagcaactcc cacatcaaca gcaaaacaga agcaaaaagt gacggagcac
      661 attcctcctt acgatgttgt accgtcaatg cgtccggtgg tgttagtggg gccgtcactg
      721 aaaggttacg aggtaacaga catgatgcag aaagccctct ttgatttcct gaagcacagg
      781 tttgatggga ggatttcaat aacgagagtg acagctgaca tttctcttgc taagaggtct
      841 gtcctaaata atcccagcaa gagagcaata attgaacgtt cgaacacccg gtccagctta
      901 gcggaagtac aaagtgaaat tgaaagaatc tttgagttgg caagatcttt gcaactggtt
      961 gttcttgatg cagacaccat caatcaccca gcacaactta taaagacttc cttagcacca
     1021 attattgttc atgtaaaagt ctcatctcca aaggttttac agcggttgat taaatctaga
     1081 ggaaagtcac aaagtaaaca cttgaatgtt caactggtgg cagctgataa acttgcacaa
     1141 tgccccccag aaatgtttga tgttatattg gatgaaaatc agcttgagga tgcatgtgaa
     1201 catctagggg agtacctgga ggcgtactgg cgtgccaccc acacaaccag tagcacaccc
     1261 atgaccccgc tgctgggaag gaatttgggc tccacggcac tctcaccata tcccacagca
     1321 atttctgggt tacagagtca gcgaatgagg cacagcaacc actccacaga gaactctcca
     1381 attgaaagac gaagtctaat gacctctgat gaaaattatc acaatgaaag ggctcggaag
     1441 agtaggaacc gcttgtcttc cagttctcag catagccgag atcattaccc tcttgtggaa
     1501 gaagattacc ctgactcata ccaggacact tacaaacccc ataggaaccg aggatcacct
     1561 gggggatata gccatgactc ccgacatagg ctttgagtct aatgaaacaa aaaatattca
     1621 tctgttgaca atttgccata gcagtgctag gataaaccaa tcatcttaac ttggctaaca
     1681 tagcacagta tttactgtgc taatgggctg ctgtcatttt atgctaagta aggggcaaaa
     1741 aaaaaaatta cattatgccc ttgagtctag atggatatta gatgcccgat catatagata
     1801 tttttaagtg caacatttac atgataacag tacattttgt tttcttcata gatttagaca
     1861 catcaatttg taatttaggg tacttacaag gcacatataa aataatttcc catgctggaa
     1921 attccaaatg accagttcca gttggaacca atttataaac caattcctgt tggaatttgg
     1981 gtgaattgac tagaaagtct acttgagcat gttgtaatca actgaaaaat ctggggggaa
     2041 aaaaaaaaaa ctaataagaa aatcgaaata ccaatagaag ccaaatccag ctttggtatt
     2101 tatttgctgg aagctaaatt tacacttaaa gttggagtgt ataaacattt taatatatgt
     2161 taatgttgcc agaatgactt ttcagactta ccaaatgtat tgatagtgcc aaaaaaaaaa
     2221 tctcagaaat cttaatgcag aaattatata gtctcctcag attttaatat ttttatttct
     2281 ttcctggcac agctgttgta ttcaaagtgt tttgcttttt gtttggtcag tactgttagc
     2341 tcatttgaag ttggcaaaaa caaatacaaa caagcaaaaa acctcaaatt tttttcagca
     2401 gtgagagaga atagtaaaga gaggcccaag catagctggt tatgtgaaat ataaaatggg
     2461 gtgttgttct ccctttaatc aatctgagca caactacata catccaggaa tctgaagtca
     2521 gatagtaagg atgtggtacc aatcctcccg agtgcaatgc taaacacttc caggtgggaa
     2581 ttcatctatt tcacttaaca caaacgcagg gtctgtattt cctgccaaca agattgagta
     2641 tctttccatt gcttctctca gtctctgtct ttgaatatct gaatgttctg gcccttcaac
     2701 aaattcttta aatcatgcta aggaatttcg ttttatgtgg acacactcaa ctttgatatt
     2761 caggagatgt ttttacaaaa tgactaattg aaaaaagttg aaacaaatga ttttaaaagc
     2821 ttgcagtaaa aaataaactc atagattcag caaatatttg ttgactaaaa ttatagcatt
     2881 tttaatgcag aaaattataa agaatttgga gattgagctg ccttatttct aatgaacact
     2941 cctcttcatc ttattaagtc ttcacagttt ttccagtggc tataattatg gaattggtga
     3001 cctatgtttt atattatcaa ggaagcctta gattcactct gatctaagaa attattgaaa
     3061 ttgacccttt ttacacaaat gtctttaaaa aaaaaaactt atttctaaat gtccatagtg
     3121 catgcatttt ctaaaacccc aataagtcca gccataaaag ttcttttctg ctagtacatg
     3181 tcatgaagcc tatttttgaa aataatgata attaatttta tagtatcttc ttttctcccc
     3241 aagcctttca gtattcaggc actcaaagca tgcaccagtt cagtaatctt cttgaccatg
     3301 gaaataagtt ccacattact gatgagttat atatatatct tgaaccccat tacaacctca
     3361 ccacatcccc ctgcatttat gttcagtgtt tgtaccccat tatgaacctg tttagctgat
     3421 aatgaggata cctataattc tgtaagtcat ttcaaatatt tgatacaatt aaaaaatatg
     3481 ggcttagtaa attttaaaag ttaacatgtg atactggctt gtgagattct tctgtcatct
     3541 agtgaagctt ataaaacttt cagttaagac attttaaaag agttatatcc attaggcact
     3601 ttaataaaca tataacctgc cattactgaa tactttgtta gaacacagaa gagcatcttc
     3661 cagcaaacaa aaatatattt attacatgta cagcacatac ttgcatgaga aagaaaacat
     3721 tagccaaaac atttttctat atgctttact ggtttcttgt ttatgcgcat taaagtattt
     3781 aattgcaaag agtgcaccaa ggtgtacaaa tttagactag acagctgttc agctttttct
     3841 gtagtagcat tagcagtttg gtcatttaac tactttaaga tacttacatt ttatggcagg
     3901 tagctgtaac agcatttaaa tatatttcct agtcatcaag attaccatct tctttcaact
     3961 ttttaaaagt cacttgtttt taaaggtttt tcaaagcctt gtttttagtc ttccatgtca
     4021 tgccgataaa gagagtctca ttcaatatct gtgcacaaaa ccaatctatc aattaccatc
     4081 agatgtccat acctgttttg ctttgcattc ttattcaaaa gctgacaatc ttggaaaggg
     4141 tataatgtat attttattga tggatatatt taaatgttta ctttaatttg gaatattctt
     4201 tccccttctt tctgtaataa gtttatcttc ctcaaataag gggatataca tcttattttt
     4261 tttaaagact taagagttta ttgtgtaaat gatacttaaa atctagatat atactaaatg
     4321 aaaagtttta tttttgccaa gcacaccaag cacctttgaa aaatacatac tccatacttt
     4381 gtttttaatt aatttcattt aaagatagca aatgattata agcaagagaa acaagtcttt
     4441 tactgttttg aggctgtttt aacttacagt ataagccaca tactagaatt ctgtaatttc
     4501 agtcacagac atataataat gtggactcat gtgacaatgt ggaaatgtag ttctggaaaa
     4561 aaacgaatgc aatttgtcaa tcctgatgtt aattctcaag ggtataatgt cactctaata
     4621 ttataaccaa caacattatc ttgtttaata tttaaagcaa cacttagaaa tgtttataaa
     4681 tgatgattct ctcttatctt tatacagttc tattggagag aaggttgaaa ttgttcacaa
     4741 tttagatgat ggtctttcct aataagagtc ttaattttgt gactatataa gtcattgcag
     4801 ttagtcttta atgaaatgaa ttttattaat gtaaaacaaa ttctgagaca attatttgtt
     4861 tcctttaaat aatctgctat ttaattatta ttgtcgttgt ttgcaaaatg tatttttgga
     4921 atgttaacct cttttcatac ctgcatactt gaacttgtct tttgtgtggg ggccttaaaa
     4981 ttcataatag gaagtggagg cagtgaaagg aagtaagaaa aggaaattat gctaaaagat
     5041 ggtttgcaaa tttaaattct ttaaatgaac atatcacaaa atgttgttaa gacccaggat
     5101 gtccgttaag aatgtgtctt ggcaacctta atttgcatgt tagtatatat tttcttagtt
     5161 acacagtttt attttggtat ttgcttaaaa aatgtaatac cattgtagaa attaccctat
     5221 gtactgatat atttactacc tcttctctag agaagacaat ctgtctttaa agggaaaaac
     5281 actggtcaat aagtagtgat caaaattatc actattctgg ctaaccttgc tgcaaagcta
     5341 aatacataga ttattaaaat atgccttccc tttagatttt aaactgtttc caaaatgctg
     5401 tttggcaccc tttcatttct tccacgttag tgaagttttc tttgaattgg ttcacagttt
     5461 atcatgaggc aaggttaatt taacaaataa gtcatcatag ggaacaaaac aaactgcaag
     5521 ggaattgcct ttgtgtgcaa cttgttataa tatctagttc taagtctaaa ggagtaaaag
     5581 tccaaagact ttatgtttaa gagcagctgg tttgcaaatt cacattttgt tggtccttga
     5641 cttccacaga gcatgactta gccatttact gggtaaggat atgcataatc ttggactccc
     5701 atgtaattgg aataaacttc atatcaatgt ttcaaataaa tgctatgtac cccttattcc
     5761 ttttacattt ctgcctttgt cttttatgac aatgttgcat gttgtgtttt tttaaattat
     5821 ataaaactca tccttgaatg actgtatgaa tgaaaaattt ataggaaatt atgtaataaa
     5881 atctgtttta ttagtttctc atacctttaa atactgtcaa tactataact gttagtaagt
     5941 tacttactca agctgtgtct atggggcaga gaacagtcct cttctttaaa ataatcatga
     6001 tcaaaccagt caagtcaatc caattagctg ttagacagac aataaggata accttctttt
     6061 tgacttaagc agtcaagtta gtcaaaatag aaaaattggc ttatatgggc acccagaact
     6121 acagcattca aaaattactt ttaaaagttt cttcttttat taaaatggac tttcttaaat
     6181 aaaatacatc ctctgatagc agctatctct ttttacttgt aatgattaat tctaaatgct
     6241 tcatgtaatt gagggacatt atgagaagac tagaaagtat ctcatcagat aatcctaagg
     6301 gctgtaactt ctacttgcca taaacaaagt ataattaaga gtgagtagca attggtttgg
     6361 ggagtcgtag ttatatatga aactttcttt tgtttctcat gatgtatgta aaatgtttgc
     6421 agaaggatgg tagaaaatgt tactaatgaa tttagagtgg tttgggagaa tacactgata
     6481 cttcctcatt tgaaaattat aaggagttac aaggggaact aagaaccaga agtggctggc
     6541 ctctagcttt tcaatacctg ataagtgttc ttggttatgt tttgaacact taaatttctc
     6601 aacaaatggc tatgtctata tttatgtagg ggccaccctt gccctacttg catgccactt
     6661 tgacttttaa ctgaaatcag tgtgaattct gtatgcataa gggatgtaat aaagaggcgg
     6721 gatcattaac gctatatcgt tgcatactat ttttcatatg ccttacaata ttttctggga
     6781 tgttattaaa atgaaagcat tttattgcca aaataaatct atgttgttac ttataatctg
     6841 cattagcagt agaaaaataa tgtagcaaaa acatattgta cagtacaaaa ttataaaata
     6901 tatattttgc caataatata aaaatagatt gaggagaaag aagcacattt gttatagcac
     6961 aaacttataa caaaatccac cgttaaattt ggcagtcata ttttttaaaa gtatgtcgat
     7021 ttagttctaa gttttgtcag atttacttca tctaccatct ttttaacttg ctgcttgata
     7081 cttttccagc aatttatttc atagccttgc aatctgtgga tgtaatttct tttgttttat
     7141 tcccttccat aaaatttatt aaattttatt ttgtgataac actcatacca tattttctcc
     7201 tcttatttct tctctttcaa taacaacagc agaaagtcac agcaagtgag ctcatagggc
     7261 tcctctgaat tttggacatg tgtgagattt ttgtattttt cacagcctcg agtcagaatg
     7321 atcaataaag atgtcccaac cacaaaaaat tatattagtt agggattctt taatttgttt
     7381 tgtactgaat actactttga aacataagtt aaagccatta gctgtgtttt tgtagggatg
     7441 gtgggaagga ataaaaaata aatgtattaa cataaaacat actaaaacag aaatatggca
     7501 aaatgatgta aaaagatttt tcctactatt ctgagggctg ttgaaatccc aggctattgc
     7561 tatatctcca ttgacaaagt gggataaaaa atgcctttgt caaataattt tttttctttc
     7621 tttaaatttt agttatttat tttaataatt tgtccccttt tatttttctt atctaggtat
     7681 gtgtagcatt ctacaaggca tgctgggtaa aatatactat gcaaatgtgt acagtgctgc
     7741 atgttttgtt ctccctctgc tttagtggct ttaaagaaaa aaacgtggtg ttatttttgt
     7801 gaataaaaac attaacaaag aaaatgcaga gtgcatgcat agagtatcct catttctatg
     7861 gatttgtttt atggaattta aatgtgtaca aaacaactgc attacttttt ttcttttata
     7921 taataaatga aaaaaacact gaaa
//
LOCUS       NM_000727               1302 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens calcium voltage-gated channel auxiliary subunit gamma 1
            (CACNG1), mRNA.
ACCESSION   NM_000727
VERSION     NM_000727.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1302)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1302)
  AUTHORS   Bannister RA and Beam KG.
  TITLE     Ca(V)1.1: The atypical prototypical voltage-gated Ca(2) channel
  JOURNAL   Biochim Biophys Acta 1828 (7), 1587-1597 (2013)
   PUBMED   22982493
  REMARK    Review article
REFERENCE   3  (bases 1 to 1302)
  AUTHORS   Chen RS, Deng TC, Garcia T, Sellers ZM and Best PM.
  TITLE     Calcium channel gamma subunits: a functionally diverse protein
            family
  JOURNAL   Cell Biochem Biophys 47 (2), 178-186 (2007)
   PUBMED   17652770
  REMARK    Review article
REFERENCE   4  (bases 1 to 1302)
  AUTHORS   Chu PJ, Robertson HM and Best PM.
  TITLE     Calcium channel gamma subunits provide insights into the evolution
            of this gene family
  JOURNAL   Gene 280 (1-2), 37-48 (2001)
   PUBMED   11738816
REFERENCE   5  (bases 1 to 1302)
  AUTHORS   Burgess DL, Gefrides LA, Foreman PJ and Noebels JL.
  TITLE     A cluster of three novel Ca2+ channel gamma subunit genes on
            chromosome 19q13.4: evolution and expression profile of the gamma
            subunit gene family
  JOURNAL   Genomics 71 (3), 339-350 (2001)
   PUBMED   11170751
REFERENCE   6  (bases 1 to 1302)
  AUTHORS   Burgess DL, Davis CF, Gefrides LA and Noebels JL.
  TITLE     Identification of three novel Ca(2+) channel gamma subunit genes
            reveals molecular diversification by tandem and chromosome
            duplication
  JOURNAL   Genome Res 9 (12), 1204-1213 (1999)
   PUBMED   10613843
REFERENCE   7  (bases 1 to 1302)
  AUTHORS   Wagner T, Tommerup N, Wirth J, Leffers H, Zimmer J, Back E,
            Weissenbach J and Scherer G.
  TITLE     A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3
  JOURNAL   Cytogenet Cell Genet 76 (3-4), 172-175 (1997)
   PUBMED   9186513
REFERENCE   8  (bases 1 to 1302)
  AUTHORS   Olckers A, Jedlicka AE, Powers PA, Hogan K, Gregg RG and Levitt RC.
  TITLE     G to A polymorphism in the CACNLG gene
  JOURNAL   Hum Mol Genet 2 (12), 2198 (1993)
   PUBMED   8111396
REFERENCE   9  (bases 1 to 1302)
  AUTHORS   Powers PA, Liu S, Hogan K and Gregg RG.
  TITLE     Molecular characterization of the gene encoding the gamma subunit of
            the human skeletal muscle 1,4-dihydropyridine-sensitive Ca2+ channel
            (CACNLG), cDNA sequence, gene structure, and chromosomal location
  JOURNAL   J Biol Chem 268 (13), 9275-9279 (1993)
   PUBMED   8387489
REFERENCE   10  (bases 1 to 1302)
  AUTHORS   Iles DE, Segers B, Weghuis DO, Suikerbuijk R and Wieringa B.
  TITLE     Localization of the gamma-subunit of the skeletal muscle L-type
            voltage-dependent calcium channel gene (CACNLG) to human chromosome
            band 17q24 by in situ hybridization and identification of a
            polymorphic repetitive DNA sequence at the gene locus
  JOURNAL   Cytogenet Cell Genet 64 (3-4), 227-230 (1993)
   PUBMED   8404045
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.187776.1, L07738.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2153427,
            SAMEA2158800 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000226021.5/ ENSP00000226021.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA898357.1, BC113486.1,
            AF086300.1 and AC005544.1.
            On Nov 22, 2018 this sequence version replaced NM_000727.3.
            Summary: Voltage-dependent calcium channels are composed of five
            subunits. The protein encoded by this gene represents one of these
            subunits, gamma, and is one of two known gamma subunit proteins.
            This particular gamma subunit is part of skeletal muscle
            1,4-dihydropyridine-sensitive calcium channels and is an integral
            membrane protein that plays a role in excitation-contraction
            coupling. This gene is part of a functionally diverse eight-member
            protein subfamily of the PMP-22/EMP/MP20 family and is located in a
            cluster with two family members that function as transmembrane AMPA
            receptor regulatory proteins (TARPs). [provided by RefSeq, Dec
            2010].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1302
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.2"
     gene            1..1302
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /note="calcium voltage-gated channel auxiliary subunit
                     gamma 1"
                     /db_xref="GeneID:786"
                     /db_xref="HGNC:HGNC:1405"
                     /db_xref="MIM:114209"
     misc_feature    54..56
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /note="upstream in-frame stop codon"
     CDS             108..776
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /note="neuronal dihydropyridine-sensitive calcium channel
                     gamma subunit; L-type calcium channel gamma polypeptide;
                     dihydropyridine-sensitive L-type, skeletal muscle calcium
                     channel subunit gamma; calcium channel, voltage-dependent,
                     gamma subunit 1"
                     /codon_start=1
                     /product="voltage-dependent calcium channel gamma-1
                     subunit"
                     /protein_id="NP_000718.1"
                     /db_xref="CCDS:CCDS11668.1"
                     /db_xref="GeneID:786"
                     /db_xref="HGNC:HGNC:1405"
                     /db_xref="MIM:114209"
                     /translation="MSQTKMLKVRVTLFCILAGIVLAMTAVVTDHWAVLSPHMEHHNTT
                     CEAAHFGLWRICTKRIPMDDSKTCGPITLPGEKNCSYFRHFNPGESSEIFEFTTQKEYS
                     ISAAAIAIFSLGFIILGSLCVLLSLGKKRDYLLRPASMFYAFAGLCILVSVEVMRQSVK
                     RMIDSEDTVWIEYYYSWSFACACAAFILLFLGGLALLLFSLPRMPRNPWESCMDAEPEH
                     "
     misc_feature    138..194
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06432.1);
                     transmembrane region"
     misc_feature    234..236
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q06432.1); glycosylation site"
     misc_feature    342..344
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q06432.1); glycosylation site"
     misc_feature    432..494
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06432.1);
                     transmembrane region"
     misc_feature    510..572
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06432.1);
                     transmembrane region"
     misc_feature    645..719
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q06432.1);
                     transmembrane region"
     regulatory      1283..1288
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /note="hexamer: AATAAA"
     polyA_site      1302
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /note="major polyA site"
ORIGIN
        1 actcccagct cgacaaccac tgccaccccc caagctcggc ttgtcacctg ccctaggaga
       61 cgcagccgcc ggaccctgcc cagggcaccc acgcctcggc gaccaccatg tcccagacca
      121 aaatgctgaa ggtccgcgtg accctcttct gcatcctggc aggcatcgtg ctggccatga
      181 cagccgtggt aaccgaccac tgggctgtgc tgagccccca catggagcac cacaacacta
      241 cctgcgaggc ggcccacttc ggcctctggc ggatttgtac caagcgcatc cccatggacg
      301 acagcaagac ctgcgggccc atcaccctgc ccggggagaa gaactgttcc tacttcaggc
      361 attttaaccc cggcgagagc tcggagatct tcgaattcac cactcagaag gagtacagca
      421 tctcggcagc cgccatcgcc atcttcagcc ttggcttcat catcctgggc agcctctgtg
      481 tcctcctgtc cctcgggaag aagagggact atctgctgcg acccgcgtcc atgttctatg
      541 cctttgcagg tctctgcatc ctcgtctcgg tggaggtcat gcggcagtcg gtgaagcgca
      601 tgattgacag tgaggacacc gtctggatcg agtactatta ctcctggtcc tttgcctgcg
      661 cctgtgccgc cttcatcctc ctctttctcg gcggtctcgc cctcctgctg ttctccctgc
      721 ctcgaatgcc ccggaaccca tgggagtcct gcatggatgc tgagcccgag cactaaccct
      781 cctgcggccc tagcgaccct caggcttctt ccccaggaag cggggtcttg gcctggaacc
      841 ttccagagag gaggcgggag caattttagc cccaccctgc tcccatctgc ccccctgcaa
      901 cagtcgcagg ctgcttcctc tctctgagtt cctctgggct gccgcaggct cccctgggaa
      961 tagagcaaga cgtgagtcct aacctggcca cagttggggg aggcagagcc agcaggtgga
     1021 caggtgtttg caggggccca acttcccctg gagctcagag gtgtccccac tgtaccagcc
     1081 tctgataagc tgcctccagt tgtcctttat gaacattgca gggacaacct gtgtttgcca
     1141 gctgggtgtt ccgtgtaaat agccagcctg tctctttctc ggtgataaaa cacaccctct
     1201 ctggtgagcc cagcgtcccc tccttggctt ccaggagccc tgggaagcat ttttaactgg
     1261 gtagaatctg actgtggctt gaaataaaaa gctctcagaa aa
//
LOCUS       NM_000728               1044 bp    mRNA    linear   PRI 28-JUL-2023
DEFINITION  Homo sapiens calcitonin related polypeptide beta (CALCB), mRNA.
ACCESSION   NM_000728
VERSION     NM_000728.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1044)
  AUTHORS   Dai C, Zhang B, Liao Y, Liu Q, Wu F, Lv X, Zeng K and Zhu X.
  TITLE     CALCB rs3829222 T/T Genotype and Low Expression of CALCB Are
            High-Risk Factors for Adenoid Cystic Carcinoma of Salivary Gland
  JOURNAL   Dis Markers 2021, 5546858 (2021)
   PUBMED   34234876
  REMARK    GeneRIF: CALCB rs3829222 T/T Genotype and Low Expression of CALCB
            Are High-Risk Factors for Adenoid Cystic Carcinoma of Salivary
            Gland. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1044)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1044)
  AUTHORS   Maruyama R, Shimizu M, Ishijima T, Nakai Y, Inoue J and Sato R.
  TITLE     Searching for novel ATF4 target genes in human hepatoma cells by
            microarray analysis
  JOURNAL   Biosci Biotechnol Biochem 80 (6), 1149-1154 (2016)
   PUBMED   26967115
  REMARK    GeneRIF: The results suggest that C12orf39, CSTA, and CALCB are
            novel ATF4 target genes, and that C12orf39 promoter activity is
            activated by ATF4 through amino acid response element.
REFERENCE   4  (bases 1 to 1044)
  AUTHORS   Dong Y, Betancourt A, Chauhan M, Balakrishnan M, Lugo F, Anderson
            ML, Espinoza J, Fox K, Belfort M and Yallampalli C.
  TITLE     Pregnancy Increases Relaxation in Human Omental Arteries to the CGRP
            Family of Peptides
  JOURNAL   Biol Reprod 93 (6), 134 (2015)
   PUBMED   26510864
REFERENCE   5  (bases 1 to 1044)
  AUTHORS   Orvedahl A, Sumpter R Jr, Xiao G, Ng A, Zou Z, Tang Y, Narimatsu M,
            Gilpin C, Sun Q, Roth M, Forst CV, Wrana JL, Zhang YE, Luby-Phelps
            K, Xavier RJ, Xie Y and Levine B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   6  (bases 1 to 1044)
  AUTHORS   Kitamura K, Kangawa K, Kawamoto M, Ichiki Y, Matsuo H and Eto T.
  TITLE     Isolation and characterization of peptides which act on rat
            platelets, from a pheochromocytoma
  JOURNAL   Biochem Biophys Res Commun 185 (1), 134-141 (1992)
   PUBMED   1318039
REFERENCE   7  (bases 1 to 1044)
  AUTHORS   Wimalawansa SJ, Morris HR, Etienne A, Blench I, Panico M and
            MacIntyre I.
  TITLE     Isolation, purification and characterization of beta-hCGRP from
            human spinal cord
  JOURNAL   Biochem Biophys Res Commun 167 (3), 993-1000 (1990)
   PUBMED   2322288
REFERENCE   8  (bases 1 to 1044)
  AUTHORS   Petermann,J.B., Born,W., Chang,J.Y. and Fischer,J.A.
  TITLE     Identification in the human central nervous system, pituitary, and
            thyroid of a novel calcitonin gene-related peptide, and partial
            amino acid sequence in the spinal cord
  JOURNAL   J Biol Chem 262 (2), 542-545 (1987)
   PUBMED   3492492
REFERENCE   9  (bases 1 to 1044)
  AUTHORS   Steenbergh,P.H., Hoppener,J.W., Zandberg,J., Visser,A., Lips,C.J.
            and Jansz,H.S.
  TITLE     Structure and expression of the human calcitonin/CGRP genes
  JOURNAL   FEBS Lett 209 (1), 97-103 (1986)
   PUBMED   3492393
REFERENCE   10  (bases 1 to 1044)
  AUTHORS   Steenbergh,P.H., Hoppener,J.W., Zandberg,J., Lips,C.J. and
            Jansz,H.S.
  TITLE     A second human calcitonin/CGRP gene
  JOURNAL   FEBS Lett 183 (2), 403-407 (1985)
   PUBMED   2985435
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC092468.1, BI668461.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144120,
            SAMEA2145313 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000324229.11/ ENSP00000346017.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090744.5, BI668461.1, AI937230.1 and X02404.1.
            On Nov 22, 2018 this sequence version replaced NM_000728.3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1044
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.2"
     gene            1..1044
                     /gene="CALCB"
                     /gene_synonym="CALC2; CGRP-II; CGRP2"
                     /note="calcitonin related polypeptide beta"
                     /db_xref="GeneID:797"
                     /db_xref="HGNC:HGNC:1438"
                     /db_xref="MIM:114160"
     misc_feature    54..56
                     /gene="CALCB"
                     /gene_synonym="CALC2; CGRP-II; CGRP2"
                     /note="upstream in-frame stop codon"
     CDS             81..464
                     /gene="CALCB"
                     /gene_synonym="CALC2; CGRP-II; CGRP2"
                     /note="calcitonin 2; calcitonin gene-related peptide 2;
                     beta-type CGRP; calcitonin gene-related peptide II;
                     beta-CGRP"
                     /codon_start=1
                     /product="calcitonin gene-related peptide 2 precursor"
                     /protein_id="NP_000719.1"
                     /db_xref="CCDS:CCDS7820.1"
                     /db_xref="GeneID:797"
                     /db_xref="HGNC:HGNC:1438"
                     /db_xref="MIM:114160"
                     /translation="MGFRKFSPFLALSILVLYQAGSLQAAPFRSALESSPDPATLSKED
                     ARLLLAALVQDYVQMKASELKQEQETQGSSSAAQKRACNTATCVTHRLAGLLSRSGGMV
                     KSNFVPTNVGSKAFGRRRRDLQA"
     sig_peptide     81..155
                     /gene="CALCB"
                     /gene_synonym="CALC2; CGRP-II; CGRP2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    432..434
                     /gene="CALCB"
                     /gene_synonym="CALC2; CGRP-II; CGRP2"
                     /note="Phenylalanine amide.
                     /evidence=ECO:0000269|PubMed:2322288; propagated from
                     UniProtKB/Swiss-Prot (P10092.1); amidation site"
     regulatory      1020..1025
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CALCB"
                     /gene_synonym="CALC2; CGRP-II; CGRP2"
                     /note="hexamer: AATAAA"
     polyA_site      1044
                     /gene="CALCB"
                     /gene_synonym="CALC2; CGRP-II; CGRP2"
                     /note="major polyA site"
ORIGIN
        1 gcccacagca ggtgtggtgt tcatcccggg tcgaccggcc gctcgcgctg ccctgaaact
       61 ctagtcgcca gagaggcggc atgggtttcc ggaagttctc ccccttcctg gctctcagta
      121 tcttggtcct gtaccaggcg ggcagcctcc aggcggcgcc attcaggtct gccctggaga
      181 gcagcccaga cccggccaca ctcagtaaag aggacgcgcg cctcctgctg gctgcactgg
      241 tgcaggacta tgtgcagatg aaggccagtg agctgaagca ggagcaggag acacagggct
      301 ccagctccgc tgcccagaag agagcctgca acactgccac ctgtgtgact catcggctgg
      361 caggcttgct gagcagatca gggggcatgg tgaagagcaa cttcgtgccc accaatgtgg
      421 gttccaaagc ctttggcagg cgccgcaggg accttcaagc ctgagcagat gaatgactcc
      481 aggaagaagg ttatcatgaa actgaactca ccatttctat taatttctgt tggtaagaac
      541 ttggtgagaa tgccccgtgg aagatacaca tgtttgcatc ctaagatact gaaaaaaggg
      601 cacctttgtc acttgaaagg aatgaaactg aatgcaaaat aagctaattc catatttgct
      661 gtgcatcatt tttatattta attctatgtc cagtaaaagt gatggcatct ctcattgact
      721 tatctggtag caaactggtt ctttcggagc catcctgttg atcatgcagc tccaccaaac
      781 cttaggggga cgtgaaatca ctgcctgttg tggtctccga ggacacatgg taatggtgat
      841 gctgtgcctt gttatctaag aacatgattg tataatttgt ttaagaaaat gtcaatattg
      901 tgccatttgt gaacttcatc aagattaaaa gcatattttg ggtacatttg tttcaaaacc
      961 ttggtgatgc attacaactt gttttcttat gtaataataa tgatgatgat gatgataata
     1021 ataaatattt ttgagtgctt acta
//
LOCUS       NM_000729               1504 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens cholecystokinin (CCK), transcript variant 1, mRNA.
ACCESSION   NM_000729
VERSION     NM_000729.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1504)
  AUTHORS   Iwanaga T.
  TITLE     Anatomical basis of gastrin- and CCK-secreting cells and their
            functions. A review
  JOURNAL   Biomed Res 44 (3), 81-95 (2023)
   PUBMED   37258205
  REMARK    GeneRIF: Anatomical basis of gastrin- and CCK-secreting cells and
            their functions. A review. Review article
REFERENCE   2  (bases 1 to 1504)
  AUTHORS   Chou L, Chang Y, Lan K, Liu M, Lu Y, Li X, Li P and Xu Y.
  TITLE     CCK regulates osteogenic differentiation through TNFalpha/NF-kappaB
            in peri-implantitis
  JOURNAL   J Int Med Res 50 (12), 3000605221141312 (2022)
   PUBMED   36495169
  REMARK    GeneRIF: CCK regulates osteogenic differentiation through
            TNFalpha/NF-kappaB in peri-implantitis.
REFERENCE   3  (bases 1 to 1504)
  AUTHORS   Burton Murray H, Becker KR, Harshman S, Breithaupt L, Kuhnle M,
            Dreier MJ, Hauser K, Freizinger M, Eddy KT, Misra M, Kuo B, Micali
            N, Thomas JJ and Lawson EA.
  TITLE     Elevated Fasting Satiety-Promoting Cholecystokinin (CCK) in
            Avoidant/Restrictive Food Intake Disorder Compared to Healthy
            Controls
  JOURNAL   J Clin Psychiatry 83 (5) (2022)
   PUBMED   35830620
  REMARK    GeneRIF: Elevated Fasting Satiety-Promoting Cholecystokinin (CCK) in
            Avoidant/Restrictive Food Intake Disorder Compared to Healthy
            Controls. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1504)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1504)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1504)
  AUTHORS   Eberlein GA, Eysselein VE, Davis MT, Lee TD, Shively JE, Grandt D,
            Niebel W, Williams R, Moessner J, Zeeh J et al.
  TITLE     Patterns of prohormone processing. Order revealed by a new
            procholecystokinin-derived peptide
  JOURNAL   J Biol Chem 267 (3), 1517-1521 (1992)
   PUBMED   1370477
REFERENCE   7  (bases 1 to 1504)
  AUTHORS   Lund,T., Geurts van Kessel,A.H., Haun,S. and Dixon,J.E.
  TITLE     The genes for human gastrin and cholecystokinin are located on
            different chromosomes
  JOURNAL   Hum Genet 73 (1), 77-80 (1986)
   PUBMED   3011648
REFERENCE   8  (bases 1 to 1504)
  AUTHORS   Takahashi,Y., Fukushige,S., Murotsu,T. and Matsubara,K.
  TITLE     Structure of human cholecystokinin gene and its chromosomal location
  JOURNAL   Gene 50 (1-3), 353-360 (1986)
   PUBMED   3582983
REFERENCE   9  (bases 1 to 1504)
  AUTHORS   Takahashi,Y., Kato,K., Hayashizaki,Y., Wakabayashi,T., Ohtsuka,E.,
            Matsuki,S., Ikehara,M. and Matsubara,K.
  TITLE     Molecular cloning of the human cholecystokinin gene by use of a
            synthetic probe containing deoxyinosine
  JOURNAL   Proc Natl Acad Sci U S A 82 (7), 1931-1935 (1985)
   PUBMED   3856870
REFERENCE   10  (bases 1 to 1504)
  AUTHORS   Studler,J.M., Javoy-Agid,F., Cesselin,F., Legrand,J.C. and Agid,Y.
  TITLE     CCK-8-Immunoreactivity distribution in human brain: selective
            decrease in the substantia nigra from parkinsonian patients
  JOURNAL   Brain Res 243 (1), 176-179 (1982)
   PUBMED   6288173
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC111026.1, SRR1803617.255006.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2157437 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396169.7/ ENSP00000379472.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM544754.1, HY140623.1,
            BC111026.1, CB154424.1, AC018358.20 and BI756101.1.
            On May 17, 2019 this sequence version replaced NM_000729.5.
            Summary: This gene encodes a member of the gastrin/cholecystokinin
            family of proteins. The encoded preproprotein is proteolytically
            processed to generate multiple protein products, including the
            peptide hormones cholecystokinin-8, -12, -33, and others. The
            encoded peptides have been shown to regulate gastric acid secretion
            and food intake. A sulfated form of cholecystokinin-8 may modulate
            neuronal activity in the brain. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Nov 2015].
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1504
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.1"
     gene            1..1504
                     /gene="CCK"
                     /note="cholecystokinin"
                     /db_xref="GeneID:885"
                     /db_xref="HGNC:HGNC:1569"
                     /db_xref="MIM:118440"
     misc_feature    756..758
                     /gene="CCK"
                     /note="upstream in-frame stop codon"
     CDS             885..1232
                     /gene="CCK"
                     /note="prepro-cholecystokinin; cholecystokinin
                     triacontatriapeptide"
                     /codon_start=1
                     /product="cholecystokinin preproprotein"
                     /protein_id="NP_000720.1"
                     /db_xref="CCDS:CCDS2696.1"
                     /db_xref="GeneID:885"
                     /db_xref="HGNC:HGNC:1569"
                     /db_xref="MIM:118440"
                     /translation="MNSGVCLCVLMAVLAAGALTQPVPPADPAGSGLQRAEEAPRRQLR
                     VSQRTDGESRAHLGALLARYIQQARKAPSGRMSIVKNLQNLDPSHRISDRDYMGWMDFG
                     RRSAEEYEYPS"
     sig_peptide     885..944
                     /gene="CCK"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     945..1229
                     /gene="CCK"
                     /product="Cholecystokinin. /id=PRO_0000010536"
                     /note="propagated from UniProtKB/Swiss-Prot (P06307.1)"
     misc_feature    948..1040
                     /gene="CCK"
                     /note="propagated from UniProtKB/Swiss-Prot (P06307.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    975..977
                     /gene="CCK"
                     /note="O-linked (Xyl...) (chondroitin sulfate) serine.
                     /evidence=ECO:0000269|PubMed:25326458; propagated from
                     UniProtKB/Swiss-Prot (P06307.1); glycosylation site"
     mat_peptide     1020..1193
                     /gene="CCK"
                     /product="Cholecystokinin-58.
                     /evidence=ECO:0000250|UniProtKB:Q9TS44. /id=PRO_0000010538"
                     /note="propagated from UniProtKB/Swiss-Prot (P06307.1)"
     mat_peptide     1020..1166
                     /gene="CCK"
                     /product="Cholecystokinin-58 desnonopeptide.
                     /evidence=ECO:0000250|UniProtKB:Q9TS44. /id=PRO_0000306304"
                     /note="propagated from UniProtKB/Swiss-Prot (P06307.1)"
     mat_peptide     1077..1193
                     /gene="CCK"
                     /product="Cholecystokinin-39.
                     /evidence=ECO:0000250|UniProtKB:Q9TS44. /id=PRO_0000010539"
                     /note="propagated from UniProtKB/Swiss-Prot (P06307.1)"
     mat_peptide     1095..1193
                     /gene="CCK"
                     /product="Cholecystokinin-33.
                     /evidence=ECO:0000250|UniProtKB:Q9TS44. /id=PRO_0000010540"
                     /note="propagated from UniProtKB/Swiss-Prot (P06307.1)"
     mat_peptide     1119..1193
                     /gene="CCK"
                     /product="Cholecystokinin-25.
                     /evidence=ECO:0000250|UniProtKB:Q9TS44. /id=PRO_0000306305"
                     /note="propagated from UniProtKB/Swiss-Prot (P06307.1)"
     mat_peptide     1140..1193
                     /gene="CCK"
                     /product="Cholecystokinin-18.
                     /evidence=ECO:0000250|UniProtKB:Q9TS44. /id=PRO_0000306306"
                     /note="propagated from UniProtKB/Swiss-Prot (P06307.1)"
     mat_peptide     1158..1193
                     /gene="CCK"
                     /product="Cholecystokinin-12.
                     /evidence=ECO:0000250|UniProtKB:P01356. /id=PRO_0000010541"
                     /note="propagated from UniProtKB/Swiss-Prot (P06307.1)"
     mat_peptide     1170..1193
                     /gene="CCK"
                     /product="Cholecystokinin-8.
                     /evidence=ECO:0000250|UniProtKB:Q9TS44. /id=PRO_0000010542"
                     /note="propagated from UniProtKB/Swiss-Prot (P06307.1)"
     mat_peptide     1173..1193
                     /gene="CCK"
                     /product="Cholecystokinin-7.
                     /evidence=ECO:0000250|UniProtKB:Q9TS44. /id=PRO_0000306307"
                     /note="propagated from UniProtKB/Swiss-Prot (P06307.1)"
     misc_feature    1173..1175
                     /gene="CCK"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000269|PubMed:11076522; propagated from
                     UniProtKB/Swiss-Prot (P06307.1); sulfatation site"
     mat_peptide     1179..1193
                     /gene="CCK"
                     /product="Cholecystokinin-5.
                     /evidence=ECO:0000250|UniProtKB:Q9TS44. /id=PRO_0000306308"
                     /note="propagated from UniProtKB/Swiss-Prot (P06307.1)"
     misc_feature    1191..1193
                     /gene="CCK"
                     /note="Phenylalanine amide.
                     /evidence=ECO:0000269|PubMed:3856870; propagated from
                     UniProtKB/Swiss-Prot (P06307.1); amidation site"
     misc_feature    1215..1217
                     /gene="CCK"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q9TS44; propagated from
                     UniProtKB/Swiss-Prot (P06307.1); sulfatation site"
     misc_feature    1221..1223
                     /gene="CCK"
                     /note="Sulfotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q9TS44; propagated from
                     UniProtKB/Swiss-Prot (P06307.1); sulfatation site"
     regulatory      1485..1490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCK"
                     /note="hexamer: ATTAAA"
     polyA_site      1504
                     /gene="CCK"
                     /note="major polyA site"
ORIGIN
        1 attccagagg gaattccaga gcggaatacg gattccgatt ttaaaataag cgcttctaaa
       61 tctttctcct tgcatctaag acgggtgggg gaaagaaagg gagaggagtt gaggtcccaa
      121 ggttcaaggc ctggtgatct ccaggtccca ggctgggcgg cctcggtgca cggagagggc
      181 gaggggcgtg ttgtggagcc ttggcaaggc gctgctcttc ctcgcgcctc ggtttgcggt
      241 ctgtgaaatg gggttggcag tgcctttgca gggacgcggc gaactcaagc accagcaagc
      301 ggactcgaac tcaaagggtt tcagggtgta gacgaccaga gcgcactgag gggctccagg
      361 tcggcccgct ccggagccgg gagagtaacc gcgtgcaggg aaaggcgcac ggcagcctcg
      421 gtgcctccct tccctccacc ggacgggtga ctgactaggg gtgaggtcct cacctccagg
      481 ctgcgcagct gagttctgga agctgcgtca agagaggccc aggacaccaa gagccagctg
      541 tggccagagc cctttcactg acccagaaca ctggccctcg gaaacctgga gaactgcgag
      601 ggcttttaat gcggctgaga agaaagtgaa gaccccgact cctcctctct ccttcgaaag
      661 agccgacaca ggagccactt caaccggttg tcgccccagt ggccgccctc tgagcacgtg
      721 ttactgccag tctgcgtcag cgttgggtaa atacatgact ggccgacgcc gccgggtggg
      781 gctatttaag agacagccgc ccgctggtcc tccctgaact tggctcagct gccgggctgc
      841 tccggttgga aacgccaagc cagctgcgtc ctaatccaaa agccatgaac agcggcgtgt
      901 gcctgtgcgt gctgatggcg gtactggcgg ctggcgccct gacgcagccg gtgcctcccg
      961 cagatcccgc gggctccggg ctgcagcggg cagaggaggc gccccgtagg cagctgaggg
     1021 tatcgcagag aacggatggc gagtcccgag cgcacctggg cgccctgctg gcaagataca
     1081 tccagcaggc ccggaaagct ccttctggac gaatgtccat cgttaagaac ctgcagaacc
     1141 tggaccccag ccacaggata agtgaccggg actacatggg ctggatggat tttggccgtc
     1201 gcagtgccga ggagtatgag tacccctcct agaggaccca gccgccatca gcccaacggg
     1261 aagcaacctc ccaacccaga ggaggcagaa taagaaaaca atcacactca taactcattg
     1321 tctgtggagt ttgacattgt atgtatctat ttattaagtt ctcaatgtga aaaatgtgtc
     1381 tgtaagattg tccagtgcaa ccacacacct caccagaatt gtgcaaatgg aagacaaaat
     1441 gttttcttca tctgtgactc ctggtctgaa aatgttgtta tgctattaaa gtgatttcat
     1501 tctg
//
LOCUS       NM_000730               1746 bp    mRNA    linear   PRI 01-AUG-2023
DEFINITION  Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.
ACCESSION   NM_000730
VERSION     NM_000730.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1746)
  AUTHORS   Liu Q, Yang D, Zhuang Y, Croll TI, Cai X, Dai A, He X, Duan J, Yin
            W, Ye C, Zhou F, Wu B, Zhao Q, Xu HE, Wang MW and Jiang Y.
  TITLE     Ligand recognition and G-protein coupling selectivity of
            cholecystokinin A receptor
  JOURNAL   Nat Chem Biol 17 (12), 1238-1244 (2021)
   PUBMED   34556862
REFERENCE   2  (bases 1 to 1746)
  AUTHORS   Mobbs JI, Belousoff MJ, Harikumar KG, Piper SJ, Xu X, Furness SGB,
            Venugopal H, Christopoulos A, Danev R, Wootten D, Thal DM, Miller LJ
            and Sexton PM.
  TITLE     Structures of the human cholecystokinin 1 (CCK1) receptor bound to
            Gs and Gq mimetic proteins provide insight into mechanisms of G
            protein selectivity
  JOURNAL   PLoS Biol 19 (6), e3001295 (2021)
   PUBMED   34086670
  REMARK    GeneRIF: Structures of the human cholecystokinin 1 (CCK1) receptor
            bound to Gs and Gq mimetic proteins provide insight into mechanisms
            of G protein selectivity. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1746)
  AUTHORS   Li Y and Cui ZJ.
  TITLE     Photodynamic Activation of Cholecystokinin 1 Receptor with Different
            Genetically Encoded Protein Photosensitizers and from Varied
            Subcellular Sites
  JOURNAL   Biomolecules 10 (10), 1423 (2020)
   PUBMED   33050050
  REMARK    GeneRIF: Photodynamic Activation of Cholecystokinin 1 Receptor with
            Different Genetically Encoded Protein Photosensitizers and from
            Varied Subcellular Sites. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1746)
  AUTHORS   Kazmi HR, Chandra A, Nigam J, Baghel K, Srivastava M, Maurya SS and
            Parmar D.
  TITLE     Polymorphism and Expression Profile of Cholecystokinin Type A
            Receptor in Relation to Gallstone Disease Susceptibility
  JOURNAL   Biochem Genet 54 (5), 665-675 (2016)
   PUBMED   27287528
  REMARK    GeneRIF: Study shows downregulation of CCKAR gene expression in
            A1/A1 genotype of gallstone disease patients as compared with
            control with significant variation in its expression pattern in
            relation to polymorphism.
REFERENCE   5  (bases 1 to 1746)
  AUTHORS   Rai R, Kim JJ, Tewari M and Shukla HS.
  TITLE     Heterogeneous expression of cholecystokinin and gastrin receptor in
            stomach and pancreatic cancer: An immunohistochemical study
  JOURNAL   J Cancer Res Ther 12 (1), 411-416 (2016)
   PUBMED   27072272
  REMARK    GeneRIF: Our study showed significantly higher expression of CCKAR
            and down regulation of CCKBR in pancreatic cancer as compared to
            control while CCKBR/GR was detected in majority of stomach cancer
            samples. Thus, our study suggests that CCK and Gs receptors may have
            diagnostic and therapeutic implications.
REFERENCE   6  (bases 1 to 1746)
  AUTHORS   Kennedy K, Gigoux V, Escrieut C, Maigret B, Martinez J, Moroder L,
            Frehel D, Gully D, Vaysse N and Fourmy D.
  TITLE     Identification of two amino acids of the human cholecystokinin-A
            receptor that interact with the N-terminal moiety of cholecystokinin
  JOURNAL   J Biol Chem 272 (5), 2920-2926 (1997)
   PUBMED   9006937
REFERENCE   7  (bases 1 to 1746)
  AUTHORS   Miller LJ, Holicky EL, Ulrich CD and Wieben ED.
  TITLE     Abnormal processing of the human cholecystokinin receptor gene in
            association with gallstones and obesity
  JOURNAL   Gastroenterology 109 (4), 1375-1380 (1995)
   PUBMED   7557108
REFERENCE   8  (bases 1 to 1746)
  AUTHORS   Huppi K, Siwarski D, Pisegna JR and Wank S.
  TITLE     Chromosomal localization of the gastric and brain receptors for
            cholecystokinin (CCKAR and CCKBR) in human and mouse
  JOURNAL   Genomics 25 (3), 727-729 (1995)
   PUBMED   7759110
REFERENCE   9  (bases 1 to 1746)
  AUTHORS   de Weerth A, Pisegna JR, Huppi K and Wank SA.
  TITLE     Molecular cloning, functional expression and chromosomal
            localization of the human cholecystokinin type A receptor
  JOURNAL   Biochem Biophys Res Commun 194 (2), 811-818 (1993)
   PUBMED   8343165
REFERENCE   10  (bases 1 to 1746)
  AUTHORS   Ulrich CD, Ferber I, Holicky E, Hadac E, Buell G and Miller LJ.
  TITLE     Molecular cloning and functional expression of the human gallbladder
            cholecystokinin A receptor
  JOURNAL   Biochem Biophys Res Commun 193 (1), 204-211 (1993)
   PUBMED   8503909
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L19315.1, AK313978.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2157511
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000295589.4/ ENSP00000295589.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093637.5 and L19315.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000730.2.
            Summary: This gene encodes a G-protein coupled receptor that binds
            non-sulfated members of the cholecystokinin (CCK) family of peptide
            hormones. This receptor is a major physiologic mediator of
            pancreatic enzyme secretion and smooth muscle contraction of the
            gallbladder and stomach. In the central and peripheral nervous
            system this receptor regulates satiety and the release of
            beta-endorphin and dopamine. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 5' end.
FEATURES             Location/Qualifiers
     source          1..1746
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p15.2"
     gene            1..1746
                     /gene="CCKAR"
                     /gene_synonym="CCK-1R; CCK-A; CCK1-R; CCK1R; CCKRA"
                     /note="cholecystokinin A receptor"
                     /db_xref="GeneID:886"
                     /db_xref="HGNC:HGNC:1570"
                     /db_xref="MIM:118444"
     misc_feature    158..160
                     /gene="CCKAR"
                     /gene_synonym="CCK-1R; CCK-A; CCK1-R; CCK1R; CCKRA"
                     /note="upstream in-frame stop codon"
     CDS             218..1504
                     /gene="CCKAR"
                     /gene_synonym="CCK-1R; CCK-A; CCK1-R; CCK1R; CCKRA"
                     /note="cholecystokinin-1 receptor; cholecystokinin type-A
                     receptor; CCK-AR; CCK-A receptor; cholecystokinin type 1
                     receptor"
                     /codon_start=1
                     /product="cholecystokinin receptor type A"
                     /protein_id="NP_000721.1"
                     /db_xref="CCDS:CCDS3438.1"
                     /db_xref="GeneID:886"
                     /db_xref="HGNC:HGNC:1570"
                     /db_xref="MIM:118444"
                     /translation="MDVVDSLLVNGSNITPPCELGLENETLFCLDQPRPSKEWQPAVQI
                     LLYSLIFLLSVLGNTLVITVLIRNKRMRTVTNIFLLSLAVSDLMLCLFCMPFNLIPNLL
                     KDFIFGSAVCKTTTYFMGTSVSVSTFNLVAISLERYGAICKPLQSRVWQTKSHALKVIA
                     ATWCLSFTIMTPYPIYSNLVPFTKNNNQTANMCRFLLPNDVMQQSWHTFLLLILFLIPG
                     IVMMVAYGLISLELYQGIKFEASQKKSAKERKPSTTSSGKYEDSDGCYLQKTRPPRKLE
                     LRQLSTGSSSRANRIRSNSSAANLMAKKRVIRMLIVIVVLFFLCWMPIFSANAWRAYDT
                     ASAERRLSGTPISFILLLSYTSSCVNPIIYCFMNKRFRLGFMATFPCCPNPGPPGARGE
                     VGEEEEGGTTGASLSRFSYSHMSASVPPQ"
     misc_feature    245..247
                     /gene="CCKAR"
                     /gene_synonym="CCK-1R; CCK-A; CCK1-R; CCK1R; CCKRA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P32238.1); glycosylation site"
     misc_feature    287..289
                     /gene="CCKAR"
                     /gene_synonym="CCK-1R; CCK-A; CCK1-R; CCK1R; CCKRA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P32238.1); glycosylation site"
     misc_feature    341..418
                     /gene="CCKAR"
                     /gene_synonym="CCK-1R; CCK-A; CCK1-R; CCK1R; CCKRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P32238.1);
                     transmembrane region"
     misc_feature    449..529
                     /gene="CCKAR"
                     /gene_synonym="CCK-1R; CCK-A; CCK1-R; CCK1R; CCKRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P32238.1);
                     transmembrane region"
     misc_feature    563..628
                     /gene="CCKAR"
                     /gene_synonym="CCK-1R; CCK-A; CCK1-R; CCK1R; CCKRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P32238.1);
                     transmembrane region"
     misc_feature    689..751
                     /gene="CCKAR"
                     /gene_synonym="CCK-1R; CCK-A; CCK1-R; CCK1R; CCKRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P32238.1);
                     transmembrane region"
     misc_feature    785..787
                     /gene="CCKAR"
                     /gene_synonym="CCK-1R; CCK-A; CCK1-R; CCK1R; CCKRA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P32238.1); glycosylation site"
     misc_feature    848..919
                     /gene="CCKAR"
                     /gene_synonym="CCK-1R; CCK-A; CCK1-R; CCK1R; CCKRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P32238.1);
                     transmembrane region"
     misc_feature    959..1033
                     /gene="CCKAR"
                     /gene_synonym="CCK-1R; CCK-A; CCK1-R; CCK1R; CCKRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P32238.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1157..1219
                     /gene="CCKAR"
                     /gene_synonym="CCK-1R; CCK-A; CCK1-R; CCK1R; CCKRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P32238.1);
                     transmembrane region"
     misc_feature    1265..1336
                     /gene="CCKAR"
                     /gene_synonym="CCK-1R; CCK-A; CCK1-R; CCK1R; CCKRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P32238.1);
                     transmembrane region"
     misc_feature    1397..1501
                     /gene="CCKAR"
                     /gene_synonym="CCK-1R; CCK-A; CCK1-R; CCK1R; CCKRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P32238.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 actgcctttt ccacaacagg agtacaaatg ctggagtgag tgaggtgaac tcaagtcgcc
       61 tttaggaatg gctgaaaaag cccacacctg gaaatcactc cctccctgct cctccacggc
      121 aggttgcatc tgcgagacgc ttcggtcatt agaggaatga gccgggagtg agcaattcac
      181 cagctctcca gcacttggtg gaaagcagca ggcaaggatg gatgtggttg acagccttct
      241 tgtgaatgga agcaacatca ctcctccctg tgaactcggg ctcgaaaatg agacgctttt
      301 ctgcttggat cagccccgtc cttccaaaga gtggcagcca gcggtgcaga ttctcttgta
      361 ctccttgata ttcctgctca gcgtgctggg aaacacgctg gtcatcaccg tgctgattcg
      421 gaacaagcgg atgcggacgg tcaccaacat cttcctcctc tccctggctg tcagcgacct
      481 catgctctgt ctcttctgca tgccgttcaa cctcatcccc aatctgctca aggatttcat
      541 cttcgggagc gccgtttgca agaccaccac ctacttcatg ggcacctctg tgagtgtatc
      601 tacctttaat ctggtagcca tatctctaga gagatatggt gcgatttgca aacccttaca
      661 gtcccgggtc tggcagacaa aatcccatgc tttgaaggtg attgctgcta cctggtgcct
      721 ttcctttacc atcatgactc cgtaccccat ttatagcaac ttggtgcctt ttaccaaaaa
      781 taacaaccag accgcgaata tgtgccgctt tctactgcca aatgatgtta tgcagcagtc
      841 ctggcacaca ttcctgttac tcatcctctt tcttattcct ggaattgtga tgatggtggc
      901 atatggatta atctctttgg aactctacca gggaataaaa tttgaggcta gccagaagaa
      961 gtctgctaaa gaaaggaaac ctagcaccac cagcagcggc aaatatgagg acagcgatgg
     1021 gtgttacctg caaaagacca ggcccccgag gaagctggag ctccggcagc tgtccaccgg
     1081 cagcagcagc agggccaacc gcatccggag taacagctcc gcagccaacc tgatggccaa
     1141 gaaaagggtg atccgcatgc tcatcgtcat cgtggtcctc ttcttcctgt gctggatgcc
     1201 catcttcagc gccaacgcct ggcgggccta cgacaccgcc tccgcagagc gccgcctctc
     1261 aggaaccccc atttccttca tcctcctcct gtcctacacc tcctcctgcg tcaaccccat
     1321 catctactgc ttcatgaaca aacgcttccg cctcggcttc atggccacct tcccctgctg
     1381 ccccaatcct ggtcccccag gggcgagggg agaggtgggg gaggaggagg aaggcgggac
     1441 cacaggagcc tctctgtcca ggttctcgta cagccatatg agtgcctcgg tgccacccca
     1501 gtgagatgtc ccctgaccct ccaccgcaga aggaaggcag ggaggaggca gagaagaaag
     1561 aacggaagaa gagatcagga agagaaggag cagagctgat ggagaaggaa ggctccatct
     1621 ccagtgggaa ctcttcaagg tctgcttttc atccttcatc tggattccag agcactgctc
     1681 cagtggggcc atgattggtt tctaggcagt tcaaagcagg atatgttaag taacactcac
     1741 catcag
//
LOCUS       NM_000732                701 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens CD3 delta subunit of T-cell receptor complex (CD3D),
            transcript variant 1, mRNA.
ACCESSION   NM_000732
VERSION     NM_000732.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 701)
  AUTHORS   Zhang C and Wu S.
  TITLE     Hypomethylation of CD3D promoter induces immune cell infiltration
            and supports malignant phenotypes in uveal melanoma
  JOURNAL   FASEB J 37 (10), e23128 (2023)
   PUBMED   37651092
  REMARK    GeneRIF: Hypomethylation of CD3D promoter induces immune cell
            infiltration and supports malignant phenotypes in uveal melanoma.
REFERENCE   2  (bases 1 to 701)
  AUTHORS   Zhu Z, Ye W, Wu X, Lin S, Xu J, Li L, Li J, Wang H and Huang Z.
  TITLE     Comprehensive analysis reveals a prognostic and therapeutic
            biomarker CD3D in the breast carcinoma microenvironment
  JOURNAL   Biosci Rep 41 (1) (2021)
   PUBMED   33350431
  REMARK    GeneRIF: Comprehensive analysis reveals a prognostic and therapeutic
            biomarker CD3D in the breast carcinoma microenvironment.
REFERENCE   3  (bases 1 to 701)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 701)
  AUTHORS   Dong D, Zheng L, Lin J, Zhang B, Zhu Y, Li N, Xie S, Wang Y, Gao N
            and Huang Z.
  TITLE     Structural basis of assembly of the human T cell receptor-CD3
            complex
  JOURNAL   Nature 573 (7775), 546-552 (2019)
   PUBMED   31461748
  REMARK    Erratum:[Nature. 2021 Feb;590(7846):E52. PMID: 33526937]
REFERENCE   5  (bases 1 to 701)
  AUTHORS   Gaud G, Lesourne R and Love PE.
  TITLE     Regulatory mechanisms in T cell receptor signalling
  JOURNAL   Nat Rev Immunol 18 (8), 485-497 (2018)
   PUBMED   29789755
  REMARK    Review article
REFERENCE   6  (bases 1 to 701)
  AUTHORS   Luzzati AL, Giacomini E, Giordani L, Pugliese O, Viora M and Chersi
            A.
  TITLE     The antigen-specific induction of normal human lymphocytes in vitro
            is down-regulated by a conserved HIV p24 epitope
  JOURNAL   Immunol Lett 33 (3), 307-314 (1992)
   PUBMED   1385321
  REMARK    Erratum:[Immunol Lett 1993 Jan;35(1):82]
REFERENCE   7  (bases 1 to 701)
  AUTHORS   Phillips JH, Hori T, Nagler A, Bhat N, Spits H and Lanier LL.
  TITLE     Ontogeny of human natural killer (NK) cells: fetal NK cells mediate
            cytolytic function and express cytoplasmic CD3 epsilon,delta
            proteins
  JOURNAL   J Exp Med 175 (4), 1055-1066 (1992)
   PUBMED   1372642
REFERENCE   8  (bases 1 to 701)
  AUTHORS   Ko LJ, Yamamoto M, Leonard MW, George KM, Ting P and Engel JD.
  TITLE     Murine and human T-lymphocyte GATA-3 factors mediate transcription
            through a cis-regulatory element within the human T-cell receptor
            delta gene enhancer
  JOURNAL   Mol Cell Biol 11 (5), 2778-2784 (1991)
   PUBMED   2017177
REFERENCE   9  (bases 1 to 701)
  AUTHORS   Hori T, de Waal Malefyt R, Duncan BW, Harrison MR, Roncarolo MG and
            Spits H.
  TITLE     Cloning of a novel cell type from human fetal liver expressing
            cytoplasmic CD3 delta and epsilon but not membrane CD3
  JOURNAL   Int Immunol 3 (4), 353-357 (1991)
   PUBMED   1831653
REFERENCE   10  (bases 1 to 701)
  AUTHORS   Alarcon B, Ley SC, Sanchez-Madrid F, Blumberg RS, Ju ST, Fresno M
            and Terhorst C.
  TITLE     The CD3-gamma and CD3-delta subunits of the T cell antigen receptor
            can be expressed within distinct functional TCR/CD3 complexes
  JOURNAL   EMBO J 10 (4), 903-912 (1991)
   PUBMED   1826255
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BI907465.1, BX436714.2 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA2142670, SAMEA2146236
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000300692.9/ ENSP00000300692.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC070321.1.
            On Feb 27, 2020 this sequence version replaced NM_000732.5.
            Summary: The protein encoded by this gene is part of the T-cell
            receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell
            development and signal transduction. The encoded membrane protein
            represents the delta subunit of the CD3 complex, and along with
            four other CD3 subunits, binds either TCR alpha/beta or TCR
            gamma/delta to form the TCR/CD3 complex on the surface of T-cells.
            Defects in this gene are a cause of severe combined
            immunodeficiency autosomal recessive
            T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two
            transcript variants encoding different isoforms have been found for
            this gene. Other variants may also exist, but the full-length
            natures of their transcripts has yet to be defined. [provided by
            RefSeq, Feb 2009].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (A).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..701
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..701
                     /gene="CD3D"
                     /gene_synonym="CD3-DELTA; CD3DELTA; IMD19; T3D"
                     /note="CD3 delta subunit of T-cell receptor complex"
                     /db_xref="GeneID:915"
                     /db_xref="HGNC:HGNC:1673"
                     /db_xref="MIM:186790"
     misc_feature    24..26
                     /gene="CD3D"
                     /gene_synonym="CD3-DELTA; CD3DELTA; IMD19; T3D"
                     /note="upstream in-frame stop codon"
     CDS             99..614
                     /gene="CD3D"
                     /gene_synonym="CD3-DELTA; CD3DELTA; IMD19; T3D"
                     /note="isoform A precursor is encoded by transcript variant
                     1; CD3d antigen, delta polypeptide (TiT3 complex); OKT3,
                     delta chain; CD3 antigen, delta subunit; T-cell receptor T3
                     delta chain; CD3 delta; CD3d molecule, delta (CD3-TCR
                     complex)"
                     /codon_start=1
                     /product="T-cell surface glycoprotein CD3 delta chain
                     isoform A precursor"
                     /protein_id="NP_000723.1"
                     /db_xref="CCDS:CCDS8394.1"
                     /db_xref="GeneID:915"
                     /db_xref="HGNC:HGNC:1673"
                     /db_xref="MIM:186790"
                     /translation="MEHSTFLSGLVLATLLSQVSPFKIPIEELEDRVFVNCNTSITWVE
                     GTVGTLLSDITRLDLGKRILDPRGIYRCNGTDIYKDKESTVQVHYRMCQSCVELDPATV
                     AGIIVTDVIATLLLALGVFCFAGHETGRLSGAADTQALLRNDQVYQPLRDRDDAQYSHL
                     GGNWARNK"
     sig_peptide     99..161
                     /gene="CD3D"
                     /gene_synonym="CD3-DELTA; CD3DELTA; IMD19; T3D"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     162..611
                     /gene="CD3D"
                     /gene_synonym="CD3-DELTA; CD3DELTA; IMD19; T3D"
                     /product="T-cell surface glycoprotein CD3 delta chain
                     isoform A"
     misc_feature    210..212
                     /gene="CD3D"
                     /gene_synonym="CD3-DELTA; CD3DELTA; IMD19; T3D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P04234.1); glycosylation site"
     misc_feature    318..320
                     /gene="CD3D"
                     /gene_synonym="CD3-DELTA; CD3DELTA; IMD19; T3D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P04234.1); glycosylation site"
     misc_feature    414..476
                     /gene="CD3D"
                     /gene_synonym="CD3-DELTA; CD3DELTA; IMD19; T3D"
                     /note="propagated from UniProtKB/Swiss-Prot (P04234.1);
                     transmembrane region"
     misc_feature    543..545
                     /gene="CD3D"
                     /gene_synonym="CD3-DELTA; CD3DELTA; IMD19; T3D"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:12522270,
                     ECO:0007744|PubMed:15144186; propagated from
                     UniProtKB/Swiss-Prot (P04234.1); phosphorylation site"
     misc_feature    576..578
                     /gene="CD3D"
                     /gene_synonym="CD3-DELTA; CD3DELTA; IMD19; T3D"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P04234.1); phosphorylation site"
     regulatory      678..683
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD3D"
                     /gene_synonym="CD3-DELTA; CD3DELTA; IMD19; T3D"
                     /note="hexamer: AATAAA"
     polyA_site      701
                     /gene="CD3D"
                     /gene_synonym="CD3-DELTA; CD3DELTA; IMD19; T3D"
                     /note="major polyA site"
ORIGIN
        1 ctttccggta cctgtgagtc agctagggga gggcagctct cacccaggct gatagttcgg
       61 tgacctggct ttatctactg gatgagttcc gctgggagat ggaacatagc acgtttctct
      121 ctggcctggt actggctacc cttctctcgc aagtgagccc cttcaagata cctatagagg
      181 aacttgagga cagagtgttt gtgaattgca ataccagcat cacatgggta gagggaacgg
      241 tgggaacact gctctcagac attacaagac tggacctggg aaaacgcatc ctggacccac
      301 gaggaatata taggtgtaat gggacagata tatacaagga caaagaatct accgtgcaag
      361 ttcattatcg aatgtgccag agctgtgtgg agctggatcc agccaccgtg gctggcatca
      421 ttgtcactga tgtcattgcc actctgctcc ttgctttggg agtcttctgc tttgctggac
      481 atgagactgg aaggctgtct ggggctgccg acacacaagc tctgttgagg aatgaccagg
      541 tctatcagcc cctccgagat cgagatgatg ctcagtacag ccaccttgga ggaaactggg
      601 ctcggaacaa gtgaacctga gactggtggc ttctagaagc agccattacc aactgtacct
      661 tcccttcttg ctcagccaat aaatatatcc tctttcactc a
//
LOCUS       NM_000733               1361 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens CD3 epsilon subunit of T-cell receptor complex (CD3E),
            mRNA.
ACCESSION   NM_000733
VERSION     NM_000733.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1361)
  AUTHORS   Gebremicael G, Gebreegziabxier A and Kassa D.
  TITLE     Low transcriptomic of PTPRCv1 and CD3E is an independent predictor
            of mortality in HIV and tuberculosis co-infected patient
  JOURNAL   Sci Rep 12 (1), 10133 (2022)
   PUBMED   35710869
  REMARK    GeneRIF: Low transcriptomic of PTPRCv1 and CD3E is an independent
            predictor of mortality in HIV and tuberculosis co-infected patient.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1361)
  AUTHORS   Wu W, Zhou Q, Masubuchi T, Shi X, Li H, Xu X, Huang M, Meng L, He X,
            Zhu H, Gao S, Zhang N, Jing R, Sun J, Wang H, Hui E, Wong CC and Xu
            C.
  TITLE     Multiple Signaling Roles of CD3epsilon and Its Application in CAR-T
            Cell Therapy
  JOURNAL   Cell 182 (4), 855-871 (2020)
   PUBMED   32730808
  REMARK    GeneRIF: Multiple Signaling Roles of CD3epsilon and Its Application
            in CAR-T Cell Therapy.
REFERENCE   3  (bases 1 to 1361)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1361)
  AUTHORS   Erman B, Firtina S, Fisgin T, Bozkurt C and Cipe FE.
  TITLE     Biallelic Form of a Known CD3E Mutation in a Patient with Severe
            Combined Immunodeficiency
  JOURNAL   J Clin Immunol 40 (3), 539-542 (2020)
   PUBMED   32016651
  REMARK    GeneRIF: Biallelic Form of a Known CD3E Mutation in a Patient with
            Severe Combined Immunodeficiency.
REFERENCE   5  (bases 1 to 1361)
  AUTHORS   Wipa P, Paensuwan P, Ngoenkam J, Woessner NM, Minguet S, Schamel WW
            and Pongcharoen S.
  TITLE     Actin polymerization regulates recruitment of Nck to CD3epsilon upon
            T-cell receptor triggering
  JOURNAL   Immunology 159 (3), 298-308 (2020)
   PUBMED   31674657
  REMARK    GeneRIF: Actin polymerization promotes the recruitment of Nck to the
            TCR, enhancing downstream signaling, such as phosphorylation of
            CD3epsilon and lymphocyte activation.
REFERENCE   6  (bases 1 to 1361)
  AUTHORS   Lanier LL, Chang C, Spits H and Phillips JH.
  TITLE     Expression of cytoplasmic CD3 epsilon proteins in activated human
            adult natural killer (NK) cells and CD3 gamma, delta, epsilon
            complexes in fetal NK cells. Implications for the relationship of NK
            and T lymphocytes
  JOURNAL   J Immunol 149 (6), 1876-1880 (1992)
   PUBMED   1387664
REFERENCE   7  (bases 1 to 1361)
  AUTHORS   Thoenes G, Soudais C, le Deist F, Griscelli C, Fischer A and
            Lisowska-Grospierre B.
  TITLE     Structural analysis of low TCR-CD3 complex expression in T cells of
            an immunodeficient patient
  JOURNAL   J Biol Chem 267 (1), 487-493 (1992)
   PUBMED   1370449
REFERENCE   8  (bases 1 to 1361)
  AUTHORS   Wong S, Moore S, Orisio S, Millward A and Demaine AG.
  TITLE     Susceptibility to type I diabetes in women is associated with the
            CD3 epsilon locus on chromosome 11
  JOURNAL   Clin Exp Immunol 83 (1), 69-73 (1991)
   PUBMED   1671006
REFERENCE   9  (bases 1 to 1361)
  AUTHORS   Koning F, Maloy WL and Coligan JE.
  TITLE     The implications of subunit interactions for the structure of the T
            cell receptor-CD3 complex
  JOURNAL   Eur J Immunol 20 (2), 299-305 (1990)
   PUBMED   2138083
REFERENCE   10  (bases 1 to 1361)
  AUTHORS   Gold,D.P., Puck,J.M., Pettey,C.L., Cho,M., Coligan,J., Woody,J.N.
            and Terhorst,C.
  TITLE     Isolation of cDNA clones encoding the 20K non-glycosylated
            polypeptide chain of the human T-cell receptor/T3 complex
  JOURNAL   Nature 321 (6068), 431-434 (1986)
   PUBMED   3012357
  REMARK    Erratum:[Nature 1986 Dec 18-31;324(6098):702]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK292612.1, BC049847.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000361763.9/ ENSP00000354566.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP366535.1, AK292612.1 and
            BC049847.1.
            On Aug 31, 2019 this sequence version replaced NM_000733.3.
            Summary: The protein encoded by this gene is the CD3-epsilon
            polypeptide, which together with CD3-gamma, -delta and -zeta, and
            the T-cell receptor alpha/beta and gamma/delta heterodimers, forms
            the T-cell receptor-CD3 complex. This complex plays an important
            role in coupling antigen recognition to several intracellular
            signal-transduction pathways. The genes encoding the epsilon, gamma
            and delta polypeptides are located in the same cluster on
            chromosome 11. The epsilon polypeptide plays an essential role in
            T-cell development. Defects in this gene cause immunodeficiency.
            This gene has also been linked to a susceptibility to type I
            diabetes in women. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1361
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..1361
                     /gene="CD3E"
                     /gene_synonym="CD3epsilon; IMD18; T3E; TCRE"
                     /note="CD3 epsilon subunit of T-cell receptor complex"
                     /db_xref="GeneID:916"
                     /db_xref="HGNC:HGNC:1674"
                     /db_xref="MIM:186830"
     misc_feature    86..88
                     /gene="CD3E"
                     /gene_synonym="CD3epsilon; IMD18; T3E; TCRE"
                     /note="upstream in-frame stop codon"
     CDS             107..730
                     /gene="CD3E"
                     /gene_synonym="CD3epsilon; IMD18; T3E; TCRE"
                     /note="CD3e antigen, epsilon polypeptide (TiT3 complex);
                     CD3-epsilon; T-cell antigen receptor complex, epsilon
                     subunit of T3; T-cell surface antigen T3/Leu-4 epsilon
                     chain; T-cell surface glycoprotein CD3 epsilon chain; CD3e
                     molecule, epsilon (CD3-TCR complex)"
                     /codon_start=1
                     /product="T-cell surface glycoprotein CD3 epsilon chain
                     precursor"
                     /protein_id="NP_000724.1"
                     /db_xref="CCDS:CCDS31685.1"
                     /db_xref="GeneID:916"
                     /db_xref="HGNC:HGNC:1674"
                     /db_xref="MIM:186830"
                     /translation="MQSGTHWRVLGLCLLSVGVWGQDGNEEMGGITQTPYKVSISGTTV
                     ILTCPQYPGSEILWQHNDKNIGGDEDDKNIGSDEDHLSLKEFSELEQSGYYVCYPRGSK
                     PEDANFYLYLRARVCENCMEMDVMSVATIVIVDICITGGLLLLVYYWSKNRKAKAKPVT
                     RGAGAGGRQRGQNKERPPPVPNPDYEPIRKGQRDLYSGLNQRRI"
     sig_peptide     107..172
                     /gene="CD3E"
                     /gene_synonym="CD3epsilon; IMD18; T3E; TCRE"
     mat_peptide     173..727
                     /gene="CD3E"
                     /gene_synonym="CD3epsilon; IMD18; T3E; TCRE"
                     /product="T-cell surface glycoprotein CD3 epsilon chain"
     misc_feature    485..562
                     /gene="CD3E"
                     /gene_synonym="CD3epsilon; IMD18; T3E; TCRE"
                     /note="propagated from UniProtKB/Swiss-Prot (P07766.2);
                     transmembrane region"
     misc_feature    587..727
                     /gene="CD3E"
                     /gene_synonym="CD3epsilon; IMD18; T3E; TCRE"
                     /note="propagated from UniProtKB/Swiss-Prot (P07766.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    629..682
                     /gene="CD3E"
                     /gene_synonym="CD3epsilon; IMD18; T3E; TCRE"
                     /note="propagated from UniProtKB/Swiss-Prot (P07766.2);
                     Region: NUMB-binding region.
                     /evidence=ECO:0000269|PubMed:26507128"
     misc_feature    668..670
                     /gene="CD3E"
                     /gene_synonym="CD3epsilon; IMD18; T3E; TCRE"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00379,
                     ECO:0000269|PubMed:9698567, ECO:0007744|PubMed:15592455,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P07766.2); phosphorylation site"
     misc_feature    701..703
                     /gene="CD3E"
                     /gene_synonym="CD3epsilon; IMD18; T3E; TCRE"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00379,
                     ECO:0000269|PubMed:9698567; propagated from
                     UniProtKB/Swiss-Prot (P07766.2); phosphorylation site"
     regulatory      1340..1345
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD3E"
                     /gene_synonym="CD3epsilon; IMD18; T3E; TCRE"
                     /note="hexamer: AATAAA"
     polyA_site      1361
                     /gene="CD3E"
                     /gene_synonym="CD3epsilon; IMD18; T3E; TCRE"
                     /note="major polyA site"
ORIGIN
        1 agaaaccctc ctcccctccc agcctcaggt gcctgcttca gaaaatgaag tagtaagtct
       61 gctggcctcc gccatcttag taaagtaaca gtcccatgaa acaaagatgc agtcgggcac
      121 tcactggaga gttctgggcc tctgcctctt atcagttggc gtttgggggc aagatggtaa
      181 tgaagaaatg ggtggtatta cacagacacc atataaagtc tccatctctg gaaccacagt
      241 aatattgaca tgccctcagt atcctggatc tgaaatacta tggcaacaca atgataaaaa
      301 cataggcggt gatgaggatg ataaaaacat aggcagtgat gaggatcacc tgtcactgaa
      361 ggaattttca gaattggagc aaagtggtta ttatgtctgc taccccagag gaagcaaacc
      421 agaagatgcg aacttttatc tctacctgag ggcaagagtg tgtgagaact gcatggagat
      481 ggatgtgatg tcggtggcca caattgtcat agtggacatc tgcatcactg ggggcttgct
      541 gctgctggtt tactactgga gcaagaatag aaaggccaag gccaagcctg tgacacgagg
      601 agcgggtgct ggcggcaggc aaaggggaca aaacaaggag aggccaccac ctgttcccaa
      661 cccagactat gagcccatcc ggaaaggcca gcgggacctg tattctggcc tgaatcagag
      721 acgcatctga ccctctggag aacactgcct cccgctggcc caggtctcct ctccagtccc
      781 cctgcgactc cctgtttcct gggctagtct tggaccccac gagagagaat cgttcctcag
      841 cctcatggtg aactcgcgcc ctccagcctg atcccccgct ccctcctccc tgccttctct
      901 gctggtaccc agtcctaaaa tattgctgct tcctcttcct ttgaagcatc atcagtagtc
      961 acaccctcac agctggcctg ccctcttgcc aggatattta tttgtgctat tcactccctt
     1021 ccctttggat gtaacttctc cgttcagttc cctccttttc ttgcatgtaa gttgtccccc
     1081 atcccaaagt attccatcta cttttctatc gccgtcccct tttgcagccc tctctgggga
     1141 tggactgggt aaatgttgac agaggccctg ccccgttcac agatcctggc cctgagccag
     1201 ccctgtgctc ctccctcccc caacactccc taccaacccc ctaatcccct actccctcca
     1261 ccccccctcc actgtaggcc actggatggt catttgcatc tccgtaaatg tgctctgctc
     1321 ctcagctgag agagaaaaaa ataaactgta tttggctgca a
//
LOCUS       NM_000735                710 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens glycoprotein hormones, alpha polypeptide (CGA),
            transcript variant 2, mRNA.
ACCESSION   NM_000735
VERSION     NM_000735.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 710)
  AUTHORS   Asfuroglu Kalkan E, Kalkan C, Gumussoy M, Gucbey O and Soykan I.
  TITLE     Prevalence and predictors of colonoscopic findings in patients with
            autoimmune gastritis
  JOURNAL   J Investig Med 70 (1), 73-78 (2022)
   PUBMED   34341100
  REMARK    GeneRIF: Prevalence and predictors of colonoscopic findings in
            patients with autoimmune gastritis.
REFERENCE   2  (bases 1 to 710)
  AUTHORS   Xourgia X, Tsiouris S, Kolettis T, Goudevenos I, Arseniou A and
            Fotopoulos AD.
  TITLE     Myocardial perfusion SPECT as a potential mediator on circulating
            chromogranin A in patients with old myocardial infarction
  JOURNAL   Hell J Nucl Med 24 (2), 114-121 (2021)
   PUBMED   34352046
  REMARK    GeneRIF: Myocardial perfusion SPECT as a potential mediator on
            circulating chromogranin A in patients with old myocardial
            infarction.
REFERENCE   3  (bases 1 to 710)
  AUTHORS   Zhou W, Brumpton B, Kabil O, Gudmundsson J, Thorleifsson G,
            Weinstock J, Zawistowski M, Nielsen JB, Chaker L, Medici M, Teumer
            A, Naitza S, Sanna S, Schultheiss UT, Cappola A, Karjalainen J,
            Kurki M, Oneka M, Taylor P, Fritsche LG, Graham SE, Wolford BN,
            Overton W, Rasheed H, Haug EB, Gabrielsen ME, Skogholt AH, Surakka
            I, Davey Smith G, Pandit A, Roychowdhury T, Hornsby WE, Jonasson JG,
            Senter L, Liyanarachchi S, Ringel MD, Xu L, Kiemeney LA, He H,
            Netea-Maier RT, Mayordomo JI, Plantinga TS, Hrafnkelsson J,
            Hjartarson H, Sturgis EM, Palotie A, Daly M, Citterio CE, Arvan P,
            Brummett CM, Boehnke M, de la Chapelle A, Stefansson K, Hveem K,
            Willer CJ and Asvold BO.
  TITLE     GWAS of thyroid stimulating hormone highlights pleiotropic effects
            and inverse association with thyroid cancer
  JOURNAL   Nat Commun 11 (1), 3981 (2020)
   PUBMED   32769997
  REMARK    GeneRIF: GWAS of thyroid stimulating hormone highlights pleiotropic
            effects and inverse association with thyroid cancer. Erratum:[Nat
            Commun. 2021 Dec 16;12(1):7354. PMID: 34916535] Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 710)
  AUTHORS   Camperi J, Combes A, Fournier T, Pichon V and Delaunay N.
  TITLE     Analysis of the human chorionic gonadotropin protein at the intact
            level by HILIC-MS and comparison with RPLC-MS
  JOURNAL   Anal Bioanal Chem 412 (18), 4423-4432 (2020)
   PUBMED   32377867
  REMARK    GeneRIF: Analysis of the human chorionic gonadotropin protein at the
            intact level by HILIC-MS and comparison with RPLC-MS.
REFERENCE   5  (bases 1 to 710)
  AUTHORS   Choi SG, Olivet J, Cassonnet P, Vidalain PO, Luck K, Lambourne L,
            Spirohn K, Lemmens I, Dos Santos M, Demeret C, Jones L, Rangarajan
            S, Bian W, Coutant EP, Janin YL, van der Werf S, Trepte P, Wanker
            EE, De Las Rivas J, Tavernier J, Twizere JC, Hao T, Hill DE, Vidal
            M, Calderwood MA and Jacob Y.
  TITLE     Maximizing binary interactome mapping with a minimal number of
            assays
  JOURNAL   Nat Commun 10 (1), 3907 (2019)
   PUBMED   31467278
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 710)
  AUTHORS   Fiddes,J.C. and Goodman,H.M.
  TITLE     Isolation, cloning and sequence analysis of the cDNA for the
            alpha-subunit of human chorionic gonadotropin
  JOURNAL   Nature 281 (5730), 351-356 (1979)
   PUBMED   481597
REFERENCE   7  (bases 1 to 710)
  AUTHORS   Sairam,M.R. and Li,C.H.
  TITLE     Human pituitary thyrotropin. The primary structure of the alpha and
            beta subunits
  JOURNAL   Can J Biochem 55 (7), 755-760 (1977)
   PUBMED   890569
REFERENCE   8  (bases 1 to 710)
  AUTHORS   Moyle,W.R., Bahl,O.P. and Marz,L.
  TITLE     Role of carbohydrate of human chorionic gonadotropin in the
            mechanism of hormone action
  JOURNAL   J Biol Chem 250 (23), 9163-9169 (1975)
   PUBMED   172504
REFERENCE   9  (bases 1 to 710)
  AUTHORS   Rathnam,P. and Saxena,B.B.
  TITLE     Primary amino acid sequence of follicle-stimulating hormone from
            human pituitary glands. I. alpha subunit
  JOURNAL   J Biol Chem 250 (17), 6735-6746 (1975)
   PUBMED   1158880
REFERENCE   10  (bases 1 to 710)
  AUTHORS   Morgan,F.J., Birken,S. and Canfield,R.E.
  TITLE     The amino acid sequence of human chorionic gonadotropin. The alpha
            subunit and beta subunit
  JOURNAL   J Biol Chem 250 (13), 5247-5258 (1975)
   PUBMED   1150658
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC020782.1, BG621008.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142853,
            SAMEA2149398 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000627148.3/ ENSP00000486024.1
            RefSeq Select criteria      :: based on expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG619154.1, BC055080.1 and
            AI200485.1.
            On Jun 2, 2019 this sequence version replaced NM_000735.3.
            Summary: The four human glycoprotein hormones chorionic
            gonadotropin (CG), luteinizing hormone (LH), follicle stimulating
            hormone (FSH), and thyroid stimulating hormone (TSH) are dimers
            consisting of alpha and beta subunits that are associated
            noncovalently. The alpha subunits of these hormones are identical,
            however, their beta chains are unique and confer biological
            specificity. The protein encoded by this gene is the alpha subunit
            and belongs to the glycoprotein hormones alpha chain family. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Nov 2011].
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (2) has the same
            N- and C-termini but is shorter compared to isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..710
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.3"
     gene            1..710
                     /gene="CGA"
                     /gene_synonym="CG-ALPHA; FSHA; GPA1; GPHa; GPHA1; HCG; LHA;
                     TSHA"
                     /note="glycoprotein hormones, alpha polypeptide"
                     /db_xref="GeneID:1081"
                     /db_xref="HGNC:HGNC:1885"
                     /db_xref="MIM:118850"
     misc_feature    30..32
                     /gene="CGA"
                     /gene_synonym="CG-ALPHA; FSHA; GPA1; GPHa; GPHA1; HCG; LHA;
                     TSHA"
                     /note="upstream in-frame stop codon"
     CDS             102..452
                     /gene="CGA"
                     /gene_synonym="CG-ALPHA; FSHA; GPA1; GPHa; GPHA1; HCG; LHA;
                     TSHA"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; glycoprotein hormones alpha chain; chorionic
                     gonadotropin, alpha polypeptide; follicle-stimulating
                     hormone alpha subunit; FSH-alpha; LSH-alpha; TSH-alpha;
                     lutropin alpha chain; follitropin alpha chain; thyrotropin
                     alpha chain; choriogonadotropin alpha chain; luteinizing
                     hormone alpha chain; chorionic gonadotrophin subunit alpha;
                     thyroid-stimulating hormone alpha chain;
                     follicle-stimulating hormone alpha chain; anterior
                     pituitary glycoprotein hormones common subunit alpha"
                     /codon_start=1
                     /product="glycoprotein hormones alpha chain isoform 2
                     precursor"
                     /protein_id="NP_000726.1"
                     /db_xref="CCDS:CCDS5007.1"
                     /db_xref="GeneID:1081"
                     /db_xref="HGNC:HGNC:1885"
                     /db_xref="MIM:118850"
                     /translation="MDYYRKYAAIFLVTLSVFLHVLHSAPDVQDCPECTLQENPFFSQP
                     GAPILQCMGCCFSRAYPTPLRSKKTMLVQKNVTSESTCCVAKSYNRVTVMGGFKVENHT
                     ACHCSTCYYHKS"
     sig_peptide     102..173
                     /gene="CGA"
                     /gene_synonym="CG-ALPHA; FSHA; GPA1; GPHa; GPHA1; HCG; LHA;
                     TSHA"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     174..449
                     /gene="CGA"
                     /gene_synonym="CG-ALPHA; FSHA; GPA1; GPHa; GPHA1; HCG; LHA;
                     TSHA"
                     /product="glycoprotein hormones alpha chain isoform 2"
     misc_feature    327..329
                     /gene="CGA"
                     /gene_synonym="CG-ALPHA; FSHA; GPA1; GPHa; GPHA1; HCG; LHA;
                     TSHA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15662415,
                     ECO:0000269|PubMed:24692546, ECO:0007744|PDB:4MQW.
                     /id=CAR_000036; propagated from UniProtKB/Swiss-Prot
                     (P01215.1); glycosylation site"
     misc_feature    405..407
                     /gene="CGA"
                     /gene_synonym="CG-ALPHA; FSHA; GPA1; GPHa; GPHA1; HCG; LHA;
                     TSHA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15662415,
                     ECO:0000269|PubMed:24692546, ECO:0007744|PDB:4MQW.
                     /id=CAR_000037; propagated from UniProtKB/Swiss-Prot
                     (P01215.1); glycosylation site"
     regulatory      684..689
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CGA"
                     /gene_synonym="CG-ALPHA; FSHA; GPA1; GPHa; GPHA1; HCG; LHA;
                     TSHA"
                     /note="hexamer: AATAAA"
     polyA_site      710
                     /gene="CGA"
                     /gene_synonym="CG-ALPHA; FSHA; GPA1; GPHa; GPHA1; HCG; LHA;
                     TSHA"
                     /note="major polyA site"
ORIGIN
        1 gcagttactg agaactcata agacgaagct aaaatccctc ttcggatcca cagtcaaccg
       61 ccctgaacac atcctgcaaa aagcccagag aaaggagcgc catggattac tacagaaaat
      121 atgcagctat ctttctggtc acattgtcgg tgtttctgca tgttctccat tccgctcctg
      181 atgtgcagga ttgcccagaa tgcacgctac aggaaaaccc attcttctcc cagccgggtg
      241 ccccaatact tcagtgcatg ggctgctgct tctctagagc atatcccact ccactaaggt
      301 ccaagaagac gatgttggtc caaaagaacg tcacctcaga gtccacttgc tgtgtagcta
      361 aatcatataa cagggtcaca gtaatggggg gtttcaaagt ggagaaccac acggcgtgcc
      421 actgcagtac ttgttattat cacaaatctt aaatgtttta ccaagtgctg tcttgatgac
      481 tgctgatttt ctggaatgga aaattaagtt gtttagtgtt tatggctttg tgagataaaa
      541 ctctcctttt ccttaccata ccactttgac acgcttcaag gatatactgc agctttactg
      601 ccttcctcct tatcctacag tacaatcagc agtctagttc ttttcatttg gaatgaatac
      661 agcatttagc ttgttccact gcaaataaag ccttttaaat catcattcaa
//
LOCUS       NM_000737                877 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens chorionic gonadotropin subunit beta 3 (CGB3), mRNA.
ACCESSION   NM_000737
VERSION     NM_000737.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 877)
  AUTHORS   Hematian MN, Hessami K, Torabi S, Saleh M, Nouri B and Saleh M.
  TITLE     A prospective cohort study on association of first-trimester serum
            biomarkers and risk of isolated foetal congenital heart defects
  JOURNAL   Biomarkers 26 (8), 747-751 (2021)
   PUBMED   34645361
  REMARK    GeneRIF: A prospective cohort study on association of
            first-trimester serum biomarkers and risk of isolated foetal
            congenital heart defects.
REFERENCE   2  (bases 1 to 877)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 877)
  AUTHORS   Zhang T, Zeng X, Xu H, Gao L, Xiong L, An R and Xue Y.
  TITLE     Clinical characteristics and outcomes of extrauterine epithelioid
            trophoblastic tumors
  JOURNAL   Arch Gynecol Obstet 300 (3), 725-735 (2019)
   PUBMED   31312959
  REMARK    GeneRIF: In this study, we observed that abnormal levels of serum
            hCG titers and the local presentation of lesions with varying
            intervals after antecedent term pregnancy were the most common
            presenting features of extrauterine ETT [Epithelioid trophoblastic
            tumor].
REFERENCE   4  (bases 1 to 877)
  AUTHORS   Choi SG, Olivet J, Cassonnet P, Vidalain PO, Luck K, Lambourne L,
            Spirohn K, Lemmens I, Dos Santos M, Demeret C, Jones L, Rangarajan
            S, Bian W, Coutant EP, Janin YL, van der Werf S, Trepte P, Wanker
            EE, De Las Rivas J, Tavernier J, Twizere JC, Hao T, Hill DE, Vidal
            M, Calderwood MA and Jacob Y.
  TITLE     Maximizing binary interactome mapping with a minimal number of
            assays
  JOURNAL   Nat Commun 10 (1), 3907 (2019)
   PUBMED   31467278
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 877)
  AUTHORS   Meda S, Reginald BA and Reddy BS.
  TITLE     Immunohistochemical study of the expression of human chorionic
            gonadotropin-beta in salivary gland tumors
  JOURNAL   J Cancer Res Ther 14 (5), 952-956 (2018)
   PUBMED   30197330
  REMARK    GeneRIF: The presence of hCGbeta positive tumor cells appears to
            potentially reflect the aggressive behavior of mucoepidermoid
            carcinoma and adenoid cystic carcinoma
REFERENCE   6  (bases 1 to 877)
  AUTHORS   Rothman PA, Chao VA, Taylor MR, Kuhn RW, Jaffe RB and Taylor RN.
  TITLE     Extraplacental human fetal tissues express mRNA transcripts encoding
            the human chorionic gonadotropin-beta subunit protein
  JOURNAL   Mol Reprod Dev 33 (1), 1-6 (1992)
   PUBMED   1510839
REFERENCE   7  (bases 1 to 877)
  AUTHORS   Maruo T, Ladines-Llave CA, Matsuo H, Manalo AS and Mochizuki M.
  TITLE     A novel change in cytologic localization of human chorionic
            gonadotropin and human placental lactogen in first-trimester
            placenta in the course of gestation
  JOURNAL   Am J Obstet Gynecol 167 (1), 217-222 (1992)
   PUBMED   1442929
REFERENCE   8  (bases 1 to 877)
  AUTHORS   Bo M and Boime I.
  TITLE     Identification of the transcriptionally active genes of the
            chorionic gonadotropin beta gene cluster in vivo
  JOURNAL   J Biol Chem 267 (5), 3179-3184 (1992)
   PUBMED   1371113
REFERENCE   9  (bases 1 to 877)
  AUTHORS   Weisshaar G, Hiyama J and Renwick AG.
  TITLE     Site-specific N-glycosylation of human chorionic
            gonadotrophin--structural analysis of glycopeptides by one- and
            two-dimensional 1H NMR spectroscopy
  JOURNAL   Glycobiology 1 (4), 393-404 (1991)
   PUBMED   1820200
REFERENCE   10  (bases 1 to 877)
  AUTHORS   Beebe JS, Mountjoy K, Krzesicki RF, Perini F and Ruddon RW.
  TITLE     Role of disulfide bond formation in the folding of human chorionic
            gonadotropin beta subunit into an alpha beta dimer
            assembly-competent form
  JOURNAL   J Biol Chem 265 (1), 312-317 (1990)
   PUBMED   1688430
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK291552.1, BC106059.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2162568
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000357383.4/ ENSP00000349954.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291552.1 and BC106059.1.
            On Nov 20, 2020 this sequence version replaced NM_000737.4.
            Summary: This gene is a member of the glycoprotein hormone beta
            chain family and encodes the beta 3 subunit of chorionic
            gonadotropin (CG). Glycoprotein hormones are heterodimers
            consisting of a common alpha subunit and an unique beta subunit
            which confers biological specificity. CG is produced by the
            trophoblastic cells of the placenta and stimulates the ovaries to
            synthesize the steroids that are essential for the maintenance of
            pregnancy. The beta subunit of CG is encoded by 6 genes which are
            arranged in tandem and inverted pairs on chromosome 19q13.3 and
            contiguous with the luteinizing hormone beta subunit gene.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..877
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..877
                     /gene="CGB3"
                     /gene_synonym="CGB; CGB5; CGB7; CGB8; hCGB; LHB"
                     /note="chorionic gonadotropin subunit beta 3"
                     /db_xref="GeneID:1082"
                     /db_xref="HGNC:HGNC:1886"
                     /db_xref="MIM:118860"
     misc_feature    327..329
                     /gene="CGB3"
                     /gene_synonym="CGB; CGB5; CGB7; CGB8; hCGB; LHB"
                     /note="upstream in-frame stop codon"
     CDS             363..860
                     /gene="CGB3"
                     /gene_synonym="CGB; CGB5; CGB7; CGB8; hCGB; LHB"
                     /note="chorionic gonadotropin beta chain; chorionic
                     gonadotropin beta 3 subunit; CG-beta; chorionic
                     gonadotrophin chain beta; chorionic gonadotropin, beta
                     polypeptide; chorionic gonadotropin chain beta;
                     choriogonadotropin subunit beta 3; chorionic gonadotropin
                     beta subunit 3; luteinizing hormone beta subunit"
                     /codon_start=1
                     /product="choriogonadotropin subunit beta 3 precursor"
                     /protein_id="NP_000728.1"
                     /db_xref="CCDS:CCDS12749.1"
                     /db_xref="GeneID:1082"
                     /db_xref="HGNC:HGNC:1886"
                     /db_xref="MIM:118860"
                     /translation="MEMFQGLLLLLLLSMGGTWASKEPLRPRCRPINATLAVEKEGCPV
                     CITVNTTICAGYCPTMTRVLQGVLPALPQVVCNYRDVRFESIRLPGCPRGVNPVVSYAV
                     ALSCQCALCRRSTTDCGGPKDHPLTCDDPRFQDSSSSKAPPPSLPSPSRLPGPSDTPIL
                     PQ"
     sig_peptide     363..422
                     /gene="CGB3"
                     /gene_synonym="CGB; CGB5; CGB7; CGB8; hCGB; LHB"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     423..857
                     /gene="CGB3"
                     /gene_synonym="CGB; CGB5; CGB7; CGB8; hCGB; LHB"
                     /product="Choriogonadotropin subunit beta 3.
                     /id=PRO_0000011676"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DN86.1)"
     misc_feature    459..461
                     /gene="CGB3"
                     /gene_synonym="CGB; CGB5; CGB7; CGB8; hCGB; LHB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0007744|PDB:1HRP. /id=CAR_000042; propagated
                     from UniProtKB/Swiss-Prot (P0DN86.1); glycosylation site"
     misc_feature    510..512
                     /gene="CGB3"
                     /gene_synonym="CGB; CGB5; CGB7; CGB8; hCGB; LHB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0007744|PDB:1HRP. /id=CAR_000043; propagated
                     from UniProtKB/Swiss-Prot (P0DN86.1); glycosylation site"
     misc_feature    753..857
                     /gene="CGB3"
                     /gene_synonym="CGB; CGB5; CGB7; CGB8; hCGB; LHB"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DN86.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    783..785
                     /gene="CGB3"
                     /gene_synonym="CGB; CGB5; CGB7; CGB8; hCGB; LHB"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:1150658; propagated from
                     UniProtKB/Swiss-Prot (P0DN86.1); glycosylation site"
     misc_feature    801..803
                     /gene="CGB3"
                     /gene_synonym="CGB; CGB5; CGB7; CGB8; hCGB; LHB"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:1150658; propagated from
                     UniProtKB/Swiss-Prot (P0DN86.1); glycosylation site"
     misc_feature    816..818
                     /gene="CGB3"
                     /gene_synonym="CGB; CGB5; CGB7; CGB8; hCGB; LHB"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:1150658; propagated from
                     UniProtKB/Swiss-Prot (P0DN86.1); glycosylation site"
     misc_feature    834..836
                     /gene="CGB3"
                     /gene_synonym="CGB; CGB5; CGB7; CGB8; hCGB; LHB"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:1150658; propagated from
                     UniProtKB/Swiss-Prot (P0DN86.1); glycosylation site"
     regulatory      856..861
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CGB3"
                     /gene_synonym="CGB; CGB5; CGB7; CGB8; hCGB; LHB"
                     /note="hexamer: AATAAA"
     polyA_site      877
                     /gene="CGB3"
                     /gene_synonym="CGB; CGB5; CGB7; CGB8; hCGB; LHB"
                     /note="major polyA site"
ORIGIN
        1 agcacctttc tcgggtcacg gcctcctcct ggctcccagg accccaccat aggcagaggc
       61 aggccttcct acaccctact ccctgtgcct ccagcctcga ctagtcccta gcactcgacg
      121 actgagtctc tgaggtcact tcaccgtggt ctccgcctca cccttggcgc tggaccagtg
      181 agaggagagg gctggggcgc tccgctgagc cactcctgcg cccccctggc cttgtctacc
      241 tcttgccccc cgaggggtta gtgtcgagct caccccagca tcctatcacc tcctggtggc
      301 cttgccgccc ccacaacccc gaggtataaa gccaggtaca cgaggcaggg gacgcaccaa
      361 ggatggagat gttccagggg ctgctgctgt tgctgctgct gagcatgggc gggacatggg
      421 catccaagga gccgcttcgg ccacggtgcc gccccatcaa tgccaccctg gctgtggaga
      481 aggagggctg ccccgtgtgc atcaccgtca acaccaccat ctgtgccggc tactgcccca
      541 ccatgacccg cgtgctgcag ggggtcctgc cggccctgcc tcaggtggtg tgcaactacc
      601 gcgatgtgcg cttcgagtcc atccggctcc ctggctgccc gcgcggcgtg aaccccgtgg
      661 tctcctacgc cgtggctctc agctgtcaat gtgcactctg ccgccgcagc accactgact
      721 gcgggggtcc caaggaccac cccttgacct gtgatgaccc ccgcttccag gactcctctt
      781 cctcaaaggc ccctcccccc agccttccaa gcccatcccg actcccgggg ccctcggaca
      841 ccccgatcct cccacaataa aggcttctca atccgca
//
LOCUS       NM_000738               2646 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens cholinergic receptor muscarinic 1 (CHRM1), mRNA.
ACCESSION   NM_000738
VERSION     NM_000738.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2646)
  AUTHORS   Sabbir MG, Speth RC and Albensi BC.
  TITLE     Loss of Cholinergic Receptor Muscarinic 1 (CHRM1) Protein in the
            Hippocampus and Temporal Cortex of a Subset of Individuals with
            Alzheimer's Disease, Parkinson's Disease, or Frontotemporal
            Dementia: Implications for Patient Survival
  JOURNAL   J Alzheimers Dis 90 (2), 727-747 (2022)
   PUBMED   36155524
  REMARK    GeneRIF: Loss of Cholinergic Receptor Muscarinic 1 (CHRM1) Protein
            in the Hippocampus and Temporal Cortex of a Subset of Individuals
            with Alzheimer's Disease, Parkinson's Disease, or Frontotemporal
            Dementia: Implications for Patient Survival.
REFERENCE   2  (bases 1 to 2646)
  AUTHORS   Reale M, Carrarini C, Russo M, Dono F, Ferri L, Di Pietro M,
            Costantini E, Porreca A, Di Nicola M, Onofrj M and Bonanni L.
  TITLE     Muscarinic Receptors Expression in the Peripheral Blood Cells
            Differentiate Dementia with Lewy Bodies from Alzheimer's Disease
  JOURNAL   J Alzheimers Dis 85 (1), 323-330 (2022)
   PUBMED   34806612
  REMARK    GeneRIF: Muscarinic Receptors Expression in the Peripheral Blood
            Cells Differentiate Dementia with Lewy Bodies from Alzheimer's
            Disease.
REFERENCE   3  (bases 1 to 2646)
  AUTHORS   Marce-Grau A, Elorza-Vidal X, Perez-Rius C, Ruiz-Nel Lo A,
            Sala-Coromina J, Gabau E, Estevez R and Macaya A.
  TITLE     Muscarinic acetylcholine receptor M1 mutations causing
            neurodevelopmental disorder and epilepsy
  JOURNAL   Hum Mutat 42 (10), 1215-1220 (2021)
   PUBMED   34212451
  REMARK    GeneRIF: Muscarinic acetylcholine receptor M1 mutations causing
            neurodevelopmental disorder and epilepsy.
REFERENCE   4  (bases 1 to 2646)
  AUTHORS   Islam F, Maciukiewicz M, Freeman N, Huang E, Tiwari A, Mulsant BH,
            Pollock BG, Remington G, Kennedy JL, Muller DJ and Rajji TK.
  TITLE     Contributions of cholinergic receptor muscarinic 1 and CYP1A2 gene
            variants on the effects of plasma ratio of
            clozapine/N-desmethylclozapine on working memory in schizophrenia
  JOURNAL   J Psychopharmacol 35 (1), 31-39 (2021)
   PUBMED   33143542
  REMARK    GeneRIF: Contributions of cholinergic receptor muscarinic 1 and
            CYP1A2 gene variants on the effects of plasma ratio of
            clozapine/N-desmethylclozapine on working memory in schizophrenia.
REFERENCE   5  (bases 1 to 2646)
  AUTHORS   Goto Y, Ando T, Izumi H, Feng X, Arang N, Gilardi M, Wang Z, Ando K
            and Gutkind JS.
  TITLE     Muscarinic receptors promote castration-resistant growth of prostate
            cancer through a FAK-YAP signaling axis
  JOURNAL   Oncogene 39 (20), 4014-4027 (2020)
   PUBMED   32205868
  REMARK    GeneRIF: Muscarinic receptors promote castration-resistant growth of
            prostate cancer through a FAK-YAP signaling axis.
REFERENCE   6  (bases 1 to 2646)
  AUTHORS   Arden JR, Nagata O, Shockley MS, Philip M, Lameh J and Sadee W.
  TITLE     Mutational analysis of third cytoplasmic loop domains in G-protein
            coupling of the HM1 muscarinic receptor
  JOURNAL   Biochem Biophys Res Commun 188 (3), 1111-1115 (1992)
   PUBMED   1445347
REFERENCE   7  (bases 1 to 2646)
  AUTHORS   Nitsch RM, Slack BE, Wurtman RJ and Growdon JH.
  TITLE     Release of Alzheimer amyloid precursor derivatives stimulated by
            activation of muscarinic acetylcholine receptors
  JOURNAL   Science 258 (5080), 304-307 (1992)
   PUBMED   1411529
REFERENCE   8  (bases 1 to 2646)
  AUTHORS   Gutkind JS, Novotny EA, Brann MR and Robbins KC.
  TITLE     Muscarinic acetylcholine receptor subtypes as agonist-dependent
            oncogenes
  JOURNAL   Proc Natl Acad Sci U S A 88 (11), 4703-4707 (1991)
   PUBMED   1905013
REFERENCE   9  (bases 1 to 2646)
  AUTHORS   Chapman CG and Browne MJ.
  TITLE     Isolation of the human ml (Hml) muscarinic acetylcholine receptor
            gene by PCR amplification
  JOURNAL   Nucleic Acids Res 18 (8), 2191 (1990)
   PUBMED   2336407
REFERENCE   10  (bases 1 to 2646)
  AUTHORS   Goyal RK.
  TITLE     Muscarinic receptor subtypes. Physiology and clinical implications
  JOURNAL   N Engl J Med 321 (15), 1022-1029 (1989)
   PUBMED   2674717
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC022984.1, SRR14038193.3681494.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000306960.4/ ENSP00000306490.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC022984.1.
            On Nov 22, 2018 this sequence version replaced NM_000738.2.
            Summary: The muscarinic cholinergic receptors belong to a larger
            family of G protein-coupled receptors. The functional diversity of
            these receptors is defined by the binding of acetylcholine and
            includes cellular responses such as adenylate cyclase inhibition,
            phosphoinositide degeneration, and potassium channel mediation.
            Muscarinic receptors influence many effects of acetylcholine in the
            central and peripheral nervous system. The muscarinic cholinergic
            receptor 1 is involved in mediation of vagally-induced
            bronchoconstriction and in the acid secretion of the
            gastrointestinal tract. The gene encoding this receptor is
            localized to 11q13. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2646
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     gene            1..2646
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="cholinergic receptor muscarinic 1"
                     /db_xref="GeneID:1128"
                     /db_xref="HGNC:HGNC:1950"
                     /db_xref="MIM:118510"
     misc_feature    162..164
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="upstream in-frame stop codon"
     CDS             225..1607
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="acetylcholine receptor, muscarinic 1"
                     /codon_start=1
                     /product="muscarinic acetylcholine receptor M1"
                     /protein_id="NP_000729.2"
                     /db_xref="CCDS:CCDS8040.1"
                     /db_xref="GeneID:1128"
                     /db_xref="HGNC:HGNC:1950"
                     /db_xref="MIM:118510"
                     /translation="MNTSAPPAVSPNITVLAPGKGPWQVAFIGITTGLLSLATVTGNLL
                     VLISFKVNTELKTVNNYFLLSLACADLIIGTFSMNLYTTYLLMGHWALGTLACDLWLAL
                     DYVASNASVMNLLLISFDRYFSVTRPLSYRAKRTPRRAALMIGLAWLVSFVLWAPAILF
                     WQYLVGERTVLAGQCYIQFLSQPIITFGTAMAAFYLPVTVMCTLYWRIYRETENRAREL
                     AALQGSETPGKGGGSSSSSERSQPGAEGSPETPPGRCCRCCRAPRLLQAYSWKEEEEED
                     EGSMESLTSSEGEEPGSEVVIKMPMVDPEAQAPTKQPPRSSPNTVKRPTKKGRDRAGKG
                     QKPRGKEQLAKRKTFSLVKEKKAARTLSAILLAFILTWTPYNIMVLVSTFCKDCVPETL
                     WELGYWLCYVNSTINPMCYALCNKAFRDTFRLLLLCRWDKRRWRKIPKRPGSVHRTPSR
                     QC"
     misc_feature    228..230
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P11229.2); glycosylation site"
     misc_feature    258..260
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P11229.2); glycosylation site"
     misc_feature    291..368
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P11229.2);
                     transmembrane region"
     misc_feature    411..476
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P11229.2);
                     transmembrane region"
     misc_feature    510..587
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P11229.2);
                     transmembrane region"
     misc_feature    651..716
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P11229.2);
                     transmembrane region"
     misc_feature    732..734
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="Subtype-specific residue that binds to snake venom
                     muscarinic toxin 7. /evidence=ECO:0000269|PubMed:32646996;
                     propagated from UniProtKB/Swiss-Prot (P11229.2); other
                     site"
     misc_feature    738..740
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="Binds to snake venom muscarinic toxin 7.
                     /evidence=ECO:0000269|PubMed:32646996; propagated from
                     UniProtKB/Swiss-Prot (P11229.2); other site"
     misc_feature    744..746
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="Subtype-specific residue that binds to snake venom
                     muscarinic toxin 7. /evidence=ECO:0000269|PubMed:32646996;
                     propagated from UniProtKB/Swiss-Prot (P11229.2); other
                     site"
     misc_feature    780..851
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P11229.2);
                     transmembrane region"
     misc_feature    897..992
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P11229.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    912..914
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P12657; propagated from
                     UniProtKB/Swiss-Prot (P11229.2); phosphorylation site"
     misc_feature    1044..1115
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P11229.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1152..1277
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P11229.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1323..1394
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P11229.2);
                     transmembrane region"
     misc_feature    1413..1415
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="Subtype-specific residue that binds to snake venom
                     muscarinic toxin 7. /evidence=ECO:0000269|PubMed:32646996;
                     propagated from UniProtKB/Swiss-Prot (P11229.2); other
                     site"
     misc_feature    1416..1484
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P11229.2);
                     transmembrane region"
     misc_feature    1425..1427
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="Subtype-specific residue that binds to snake venom
                     muscarinic toxin 7. /evidence=ECO:0000269|PubMed:32646996;
                     propagated from UniProtKB/Swiss-Prot (P11229.2); other
                     site"
     misc_feature    1506..1508
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="Phosphothreonine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P11229.2); phosphorylation site"
     misc_feature    1575..1577
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="Phosphoserine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P11229.2); phosphorylation site"
     misc_feature    1587..1589
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="Phosphothreonine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P11229.2); phosphorylation site"
     misc_feature    1593..1595
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="Phosphoserine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P11229.2); phosphorylation site"
     regulatory      2622..2627
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="hexamer: AATAAA"
     polyA_site      2646
                     /gene="CHRM1"
                     /gene_synonym="HM1; M1; M1R"
                     /note="major polyA site"
ORIGIN
        1 atgccaatca ctggctgtgc ctctcccgct gccagcacag ggcgcagctc cccctgggag
       61 ccaggtgttt gggtccctgg agacgccgca ggcccccagg gaggcagtgg ggctgaggac
      121 cctacagacc cctcttcagc cccgtggtga tgactttccc ctgaggaagc cctgtagcgt
      181 gcctggagga aggggctctc caaccccagc cccacctagc caccatgaac acttcagccc
      241 cacctgctgt cagccccaac atcaccgtcc tggcaccagg aaagggtccc tggcaagtgg
      301 ccttcattgg gatcaccacg ggcctcctgt cgctagccac agtgacaggc aacctgctgg
      361 tactcatctc tttcaaggtc aacacggagc tcaagacagt caataactac ttcctgctga
      421 gcctggcctg tgctgacctc atcatcggta ccttctccat gaacctctat accacgtacc
      481 tgctcatggg ccactgggct ctgggcacgc tggcttgtga cctctggctg gccctggact
      541 atgtggccag caatgcctcc gtcatgaatc tgctgctcat cagctttgac cgctacttct
      601 ccgtgactcg gcccctgagc taccgtgcca agcgcacacc ccgccgggca gctctgatga
      661 tcggcctggc ctggctggtt tcctttgtgc tctgggcccc agccatcctc ttctggcagt
      721 acctggtagg ggagcggaca gtgctagctg ggcagtgcta catccagttc ctctcccagc
      781 ccatcatcac ctttggcaca gccatggctg ccttctacct ccctgtcaca gtcatgtgca
      841 cgctctactg gcgcatctac cgggagacag agaaccgagc acgggagctg gcagcccttc
      901 agggctccga gacgccaggc aaagggggtg gcagcagcag cagctcagag aggtctcagc
      961 caggggctga gggctcacca gagactcctc caggccgctg ctgtcgctgc tgccgggccc
     1021 ccaggctgct gcaggcctac agctggaagg aagaagagga agaggacgaa ggctccatgg
     1081 agtccctcac atcctcagag ggagaggagc ctggctccga agtggtgatc aagatgccaa
     1141 tggtggaccc cgaggcacag gcccccacca agcagccccc acggagctcc ccaaatacag
     1201 tcaagaggcc gactaagaaa gggcgtgatc gagctggcaa gggccagaag ccccgtggaa
     1261 aggagcagct ggccaagcgg aagaccttct cgctggtcaa ggagaagaag gcggctcgga
     1321 ccctgagtgc catcctcctg gccttcatcc tcacctggac accgtacaac atcatggtgc
     1381 tggtgtccac cttctgcaag gactgtgttc ccgagaccct gtgggagctg ggctactggc
     1441 tgtgctacgt caacagcacc atcaacccca tgtgctacgc actctgcaac aaagccttcc
     1501 gggacacctt tcgcctgctg ctgctttgcc gctgggacaa gagacgctgg cgcaagatcc
     1561 ccaagcgccc tggctccgtg caccgcactc cctcccgcca atgctgatag tcccctctcc
     1621 tgcatccctc caccccagtc cccgggaaag gccggtggga agagggcagg ggctgcatcc
     1681 tcagccccag ggccctgctc aggcctcacc tggcttccca ggaccctggg tcaccttcct
     1741 gggcagccca gagagaccct gccaactttc cagacttcgc tattcccagg cagggaggga
     1801 aacccgggga actggttttt ctgttccctg ctgggtggga atgcgctctt caccaggaag
     1861 aaggcccggg aggaggatcc gggctttgga ctccttgttt gcctttaggc aggaagtcag
     1921 gagccagcag ggcgggccag gagaaagaag gcttaacatt aagtattcct tggcccagca
     1981 gcggcccaga ttgcggtgtg agatggtgcc ccctgggggg cacagccaga aactgaactg
     2041 gccgctggga gaaaagccag atgacaggga gctggggaat cccctcgctt cataggcaga
     2101 gcccgcccac ctgggcccta ggcatactct ccaggattgt ccacaaatgt cctcagaggg
     2161 tccctaggtg ggtcaactcc aaggcaaatg tccaagcatc agcaagacaa tgacactgga
     2221 agggtccggc ttggctagtc acatatcaag tcccgaggca gcaacaggac caggagccag
     2281 gtgtcctgac tgtcctacaa tatcattttc ctgggagtgg gagtcaagtg tgcctgctat
     2341 ccagccgcaa atccataccc cctgccccag agaagcctca gtccctccct cctggctcac
     2401 agccaccacc tggatggatc tgctccatgc agatctagcc aggcctcccg catgctgcct
     2461 gcctccggcc ctgccccaca caggcctggc ccagccagca ggttctctcc tgtgagctcc
     2521 ccaatccaac ccatgcatgg cctcccagcc acccggatct ccaggcccag cctggcccca
     2581 aatgttcttt cctttcatcc tcagcaagtg ctgagtctgt gaataaagcc acataaccag
     2641 cgggca
//
LOCUS       NM_000741               3044 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens cholinergic receptor muscarinic 4 (CHRM4), transcript
            variant 1, mRNA.
ACCESSION   NM_000741
VERSION     NM_000741.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3044)
  AUTHORS   Reale M, Carrarini C, Russo M, Dono F, Ferri L, Di Pietro M,
            Costantini E, Porreca A, Di Nicola M, Onofrj M and Bonanni L.
  TITLE     Muscarinic Receptors Expression in the Peripheral Blood Cells
            Differentiate Dementia with Lewy Bodies from Alzheimer's Disease
  JOURNAL   J Alzheimers Dis 85 (1), 323-330 (2022)
   PUBMED   34806612
  REMARK    GeneRIF: Muscarinic Receptors Expression in the Peripheral Blood
            Cells Differentiate Dementia with Lewy Bodies from Alzheimer's
            Disease.
REFERENCE   2  (bases 1 to 3044)
  AUTHORS   Luo L, Zhang G, Mao L, Wang P, Xi C, Shi G and Leavenworth JW.
  TITLE     Group II muscarinic acetylcholine receptors attenuate hepatic injury
            via Nrf2/ARE pathway
  JOURNAL   Toxicol Appl Pharmacol 395, 114978 (2020)
   PUBMED   32234387
  REMARK    GeneRIF: Group II muscarinic acetylcholine receptors attenuate
            hepatic injury via Nrf2/ARE pathway.
REFERENCE   3  (bases 1 to 3044)
  AUTHORS   Moehle MS and Conn PJ.
  TITLE     Roles of the M4 acetylcholine receptor in the basal ganglia and the
            treatment of movement disorders
  JOURNAL   Mov Disord 34 (8), 1089-1099 (2019)
   PUBMED   31211471
  REMARK    GeneRIF: Authors discuss how M4 activity regulates DA release and
            signaling, the potential sources of ACh that can regulate M4
            activity, and the implications of targeting M4 activity for the
            treatment of the motor symptoms in movement disorders. [Review]
            Review article
REFERENCE   4  (bases 1 to 3044)
  AUTHORS   Levran O, Randesi M, Peles E, Correa da Rosa J, Ott J, Rotrosen J,
            Adelson M and Kreek MJ.
  TITLE     African-specific variability in the acetylcholine muscarinic
            receptor M4: association with cocaine and heroin addiction
  JOURNAL   Pharmacogenomics 17 (9), 995-1003 (2016)
   PUBMED   27269905
  REMARK    GeneRIF: the association of the African-specific CHRM4 SNP with
            cocaine dependence survived correction for multiple testing
REFERENCE   5  (bases 1 to 3044)
  AUTHORS   Thal DM, Sun B, Feng D, Nawaratne V, Leach K, Felder CC, Bures MG,
            Evans DA, Weis WI, Bachhawat P, Kobilka TS, Sexton PM, Kobilka BK
            and Christopoulos A.
  TITLE     Crystal structures of the M1 and M4 muscarinic acetylcholine
            receptors
  JOURNAL   Nature 531 (7594), 335-340 (2016)
   PUBMED   26958838
  REMARK    GeneRIF: crystal structures of the M1 and M4 muscarinic receptors
            bound to the inverse agonist, tiotropium
REFERENCE   6  (bases 1 to 3044)
  AUTHORS   Grewal RP, Martinez M, Hoehe M, Bonner TI, Gershon ES and
            Detera-Wadleigh S.
  TITLE     Genetic linkage mapping of the m4 human muscarinic receptor (CHRM4)
  JOURNAL   Genomics 13 (1), 239-240 (1992)
   PUBMED   1577490
REFERENCE   7  (bases 1 to 3044)
  AUTHORS   Goyal RK.
  TITLE     Muscarinic receptor subtypes. Physiology and clinical implications
  JOURNAL   N Engl J Med 321 (15), 1022-1029 (1989)
   PUBMED   2674717
  REMARK    Review article
REFERENCE   8  (bases 1 to 3044)
  AUTHORS   Detera-Wadleigh SD, Wiesch D and Bonner TI.
  TITLE     An SstI polymorphism for the human muscarinic acetylcholine receptor
            gene, m4 (CHRM 4)
  JOURNAL   Nucleic Acids Res 17 (15), 6431 (1989)
   PUBMED   2570410
REFERENCE   9  (bases 1 to 3044)
  AUTHORS   Ashkenazi A, Ramachandran J and Capon DJ.
  TITLE     Acetylcholine analogue stimulates DNA synthesis in brain-derived
            cells via specific muscarinic receptor subtypes
  JOURNAL   Nature 340 (6229), 146-150 (1989)
   PUBMED   2739737
REFERENCE   10  (bases 1 to 3044)
  AUTHORS   Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M and Kaziro Y.
  TITLE     Presence of three distinct molecular species of Gi protein alpha
            subunit. Structure of rat cDNAs and human genomic DNAs
  JOURNAL   J Biol Chem 263 (14), 6656-6664 (1988)
   PUBMED   2834384
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2151119,
            SAMEA2155751 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000682254.1/ ENSP00000507561.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC116021.5.
            On Aug 27, 2019 this sequence version replaced NM_000741.4.
            Summary: The muscarinic cholinergic receptors belong to a larger
            family of G protein-coupled receptors. The functional diversity of
            these receptors is defined by the binding of acetylcholine and
            includes cellular responses such as adenylate cyclase inhibition,
            phosphoinositide degeneration, and potassium channel mediation.
            Muscarinic receptors influence many effects of acetylcholine in the
            central and peripheral nervous system. The clinical implications of
            this receptor are unknown; however, mouse studies link its function
            to adenylyl cyclase inhibition. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3044
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..3044
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="cholinergic receptor muscarinic 4"
                     /db_xref="GeneID:1132"
                     /db_xref="HGNC:HGNC:1953"
                     /db_xref="MIM:118495"
     CDS             276..1715
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="acetylcholine receptor, muscarinic 4"
                     /codon_start=1
                     /product="muscarinic acetylcholine receptor M4"
                     /protein_id="NP_000732.2"
                     /db_xref="CCDS:CCDS44581.1"
                     /db_xref="GeneID:1132"
                     /db_xref="HGNC:HGNC:1953"
                     /db_xref="MIM:118495"
                     /translation="MANFTPVNGSSGNQSVRLVTSSSHNRYETVEMVFIATVTGSLSLV
                     TVVGNILVMLSIKVNRQLQTVNNYFLFSLACADLIIGAFSMNLYTVYIIKGYWPLGAVV
                     CDLWLALDYVVSNASVMNLLIISFDRYFCVTKPLTYPARRTTKMAGLMIAAAWVLSFVL
                     WAPAILFWQFVVGKRTVPDNQCFIQFLSNPAVTFGTAIAAFYLPVVIMTVLYIHISLAS
                     RSRVHKHRPEGPKEKKAKTLAFLKSPLMKQSVKKPPPGEAAREELRNGKLEEAPPPALP
                     PPPRPVADKDTSNESSSGSATQNTKERPATELSTTEATTPAMPAPPLQPRALNPASRWS
                     KIQIVTKQTGNECVTAIEIVPATPAGMRPAANVARKFASIARNQVRKKRQMAARERKVT
                     RTIFAILLAFILTWTPYNVMVLVNTFCQSCIPDTVWSIGYWLCYVNSTINPACYALCNA
                     TFKKTFRHLLLCQYRNIGTAR"
     misc_feature    297..299
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08173.2); glycosylation site"
     misc_feature    312..314
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08173.2); glycosylation site"
     misc_feature    369..437
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P08173.2);
                     transmembrane region"
     misc_feature    480..542
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P08173.2);
                     transmembrane region"
     misc_feature    594..659
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P08173.2);
                     transmembrane region"
     misc_feature    720..788
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P08173.2);
                     transmembrane region"
     misc_feature    855..923
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P08173.2);
                     transmembrane region"
     misc_feature    1086..1274
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P08173.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1479..1541
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P08173.2);
                     transmembrane region"
     misc_feature    1584..1643
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P08173.2);
                     transmembrane region"
     misc_feature    1650..1652
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="Phosphothreonine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P08173.2); phosphorylation site"
     misc_feature    1662..1664
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="Phosphothreonine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P08173.2); phosphorylation site"
     misc_feature    1704..1706
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="Phosphothreonine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P08173.2); phosphorylation site"
     regulatory      3011..3016
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="hexamer: ATTAAA"
     polyA_site      3044
                     /gene="CHRM4"
                     /gene_synonym="HM4; M4R"
                     /note="major polyA site"
ORIGIN
        1 gccacagcgc cgggagctgc gggcggagca ggggccgccc ctcgacaccc cgtccccgcc
       61 cccggccctc ggcccggccg cccgccccgc cggcccgcgg ggccgcgcgt ccgtcccgcc
      121 gtctgtctgg cgcgagggga gctgggcaga ggcggcgggt aagtggctcc gcggcggcgc
      181 gggggcgggg ggctcgccgg gaagagcagg aagcaggtcc ccgggacgct ctgaggctcc
      241 ccagagacac ggcctaccca cccctggcaa ccaacatggc caacttcaca cctgtcaatg
      301 gcagctcggg caatcagtcc gtgcgcctgg tcacgtcatc atcccacaat cgctatgaga
      361 cggtggaaat ggtcttcatt gccacagtga caggctccct gagcctggtg actgtcgtgg
      421 gcaacatcct ggtgatgctg tccatcaagg tcaacaggca gctgcagaca gtcaacaact
      481 acttcctctt cagcctggcg tgtgctgatc tcatcatagg cgccttctcc atgaacctct
      541 acaccgtgta catcatcaag ggctactggc ccctgggcgc cgtggtctgc gacctgtggc
      601 tggccctgga ctacgtggtg agcaacgcct ccgtcatgaa ccttctcatc atcagctttg
      661 accgctactt ctgcgtcacc aagcctctca cctaccctgc ccggcgcacc accaagatgg
      721 caggcctcat gattgctgct gcctgggtac tgtccttcgt gctctgggcg cctgccatct
      781 tgttctggca gtttgtggtg ggtaagcgga cggtgcccga caaccagtgc ttcatccagt
      841 tcctgtccaa cccagcagtg acctttggca cagccattgc tgccttctac ctgcctgtgg
      901 tcatcatgac ggtgctgtac atccacatct ccctggccag tcgcagccga gtccacaagc
      961 accggcccga gggcccgaag gagaagaaag ccaagacgct ggccttcctc aagagcccac
     1021 taatgaagca gagcgtcaag aagcccccgc ccggggaggc cgcccgggag gagctgcgca
     1081 atggcaagct ggaggaggcc cccccgccag cgctgccacc gccaccgcgc cccgtggctg
     1141 ataaggacac ttccaatgag tccagctcag gcagtgccac ccagaacacc aaggaacgcc
     1201 cagccacaga gctgtccacc acagaggcca ccacgcccgc catgcccgcc cctcccctgc
     1261 agccgcgggc cctcaaccca gcctccagat ggtccaagat ccagattgtg acgaagcaga
     1321 caggcaatga gtgtgtgaca gccattgaga ttgtgcctgc cacgccggct ggcatgcgcc
     1381 ctgcggccaa cgtggcccgc aagttcgcca gcatcgctcg caaccaggtg cgcaagaagc
     1441 ggcagatggc ggcccgggag cgcaaagtga cacgaacgat ctttgccatt ctgctagcct
     1501 tcatcctcac ctggacgccc tacaacgtca tggtcctggt gaacaccttc tgccagagct
     1561 gcatccctga cacggtgtgg tccattggct actggctctg ctacgtcaac agcaccatca
     1621 accctgcctg ctatgctctg tgcaacgcca cctttaaaaa gaccttccgg cacctgctgc
     1681 tgtgccagta tcggaacatc ggcactgcca ggtaggcagg caggagtgcc ctaggaggtg
     1741 ctggtgttgc gtgcgtgtgc tggggggacc acacggctca cttgctgtgg ggaagagttg
     1801 caggcaccat tctgcgttca cgtttgctga ggaggaagtt cagaagaggc tctgtggctg
     1861 cattcagaga ccagatctct gctcaggctg aggaggctca ccccagggag tgtctgaact
     1921 ggggctgcct ggcccacctc tgtggccctg cttcagcgag ctgcggggca ctggcctggg
     1981 tgggcacctg ccccactgtg accaaccatc agcagtgctg gaagaatgga catctggatg
     2041 ggggccgaag cccagggccc cctcaggaag aacaaagggg ccagtgcttg gaaaaggagg
     2101 cttgggaagg gagtagaagg gtggggtccc ccattctgct gtaatcggtg ctttctgccc
     2161 ccttgcaccc cgcatgtagg ctcagccccc tctccccaaa tcccactcca ggggcagaaa
     2221 tctcctctgg ctgcagctac ttagccaggt tctgggtggg tatgatggag gccaggtccc
     2281 ccccgcccca gcagcactgc ccttgtcaca ttaagatggg gcagctggga ggtcagaggt
     2341 tctgtctcag gaactgaggt ctggccttct gcgatcccag gctgagccgt gagtggtcca
     2401 cgtattcaga agacagcccc ctgcagcccc ggccttagaa ggctgtccca ggtcacacat
     2461 cgagtcaggg tgaggctgtg gtggatggca ttcccatctg ccctcttcaa acctctcacc
     2521 ccctggcttc tgcagggtgg aggcctgggt cacacaggca agaggaaagg ggtcaacctg
     2581 gtggctcact cgggtttcca tgacagtggg aaggggggag gtgggcagtg aggtaggcac
     2641 gcagccctcg catctgctct cccccatggg tagaaccttc ctgattggct gtgggttgta
     2701 tcaaaagacc tttgactggg tgaggctgag atgggtgtgg tggttccagt gagtcagcca
     2761 ggttcccttc cccagccctg gtccctgagg gagatgagga ccgaaaggct taggtgactt
     2821 gatggggagc accctttcag gggccctgga agaaatgttt gtaattgttc tgctttttcc
     2881 atgagctctg gagagcaccc accaccaagc cccctgaaac ccaccagtcc ctacagcctg
     2941 gtctttctcc ccaccttccc actcccaaac acatttccac agcaaactcc ttgggaaggg
     3001 gcttttatat attaaaaaag aagagctttt attgggggga aaaa
//
LOCUS       NM_000742               4037 bp    mRNA    linear   PRI 07-SEP-2020
DEFINITION  Homo sapiens cholinergic receptor nicotinic alpha 2 subunit
            (CHRNA2), transcript variant 1, mRNA.
ACCESSION   NM_000742
VERSION     NM_000742.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4037)
  AUTHORS   Demontis D, Rajagopal VM, Thorgeirsson TE, Als TD, Grove J, Leppala
            K, Gudbjartsson DF, Pallesen J, Hjorthoj C, Reginsson GW,
            Tyrfingsson T, Runarsdottir V, Qvist P, Christensen JH,
            Bybjerg-Grauholm J, Baekvad-Hansen M, Huckins LM, Stahl EA,
            Timmermann A, Agerbo E, Hougaard DM, Werge T, Mors O, Mortensen PB,
            Nordentoft M, Daly MJ, Stefansson H, Stefansson K, Nyegaard M and
            Borglum AD.
  TITLE     Genome-wide association study implicates CHRNA2 in cannabis use
            disorder
  JOURNAL   Nat. Neurosci. 22 (7), 1066-1074 (2019)
   PUBMED   31209380
  REMARK    GeneRIF: The index variant (rs56372821) is a strong expression
            quantitative trait locus for CHRNA2; analyses of the genetically
            regulated gene expression identified a significant association of
            CHRNA2 expression with cannabis use disorder (CUD) in brain tissue.
            At the polygenic level, analyses revealed a significant decrease in
            the risk of CUD with increased load of variants associated with
            cognitive performance.
REFERENCE   2  (bases 1 to 4037)
  AUTHORS   Wang M, Liu D, Schwender H, Wang H, Wang P, Zhou Z, Li J, Wu T, Zhu
            H and Beaty TH.
  TITLE     Evaluating the effect of nicotinic cholinergic receptor genes on the
            risk of nonsyndromic cleft lip with or without cleft palate
  JOURNAL   Oral Dis 24 (6), 1068-1072 (2018)
   PUBMED   29688589
  REMARK    GeneRIF: In our analysis, we found one pair of SNPs in CHRNA1 and
            CHRNA7, plus one pair of SNPs in CHRNA2 and CHRNA3 reached corrected
            significance in tests for GxG interaction. Our study suggested
            evidence of interactions between CHRNs in controlling the risk of
            NSCL/P.
REFERENCE   3  (bases 1 to 4037)
  AUTHORS   Jun H, Yu H, Gong J, Jiang J, Qiao X, Perkey E, Kim DI, Emont MP,
            Zestos AG, Cho JS, Liu J, Kennedy RT, Maillard I, Xu XZS and Wu J.
  TITLE     An immune-beige adipocyte communication via nicotinic acetylcholine
            receptor signaling
  JOURNAL   Nat. Med. 24 (6), 814-822 (2018)
   PUBMED   29785025
  REMARK    GeneRIF: These results reveal a beige-selective immune-adipose
            interaction mediated through CHRNA2 and identify a novel function of
            nicotinic acetylcholine receptors in energy metabolism.
REFERENCE   4  (bases 1 to 4037)
  AUTHORS   Kouvatsos N, Giastas P, Chroni-Tzartou D, Poulopoulou C and Tzartos
            SJ.
  TITLE     Crystal structure of a human neuronal nAChR extracellular domain in
            pentameric assembly: Ligand-bound alpha2 homopentamer
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 113 (34), 9635-9640 (2016)
   PUBMED   27493220
  REMARK    GeneRIF: A crystal structure of a human neuronal CHRNA2
            extracellular domain in pentameric assembly has been reported.
REFERENCE   5  (bases 1 to 4037)
  AUTHORS   Trivisano M, Terracciano A, Milano T, Cappelletti S, Pietrafusa N,
            Bertini ES, Vigevano F and Specchio N.
  TITLE     Mutation of CHRNA2 in a family with benign familial infantile
            seizures: Potential role of nicotinic acetylcholine receptor in
            various phenotypes of epilepsy
  JOURNAL   Epilepsia 56 (5), e53-e57 (2015)
   PUBMED   25847220
  REMARK    GeneRIF: a heterozygous single-nucleotide substitution in CHRNA2
            gene (c.1126 C>T; p. Arg376Trp) in subjects with benign familial
            infantile seizures
REFERENCE   6  (bases 1 to 4037)
  AUTHORS   Elliott KJ, Ellis SB, Berckhan KJ, Urrutia A, Chavez-Noriega LE,
            Johnson EC, Velicelebi G and Harpold MM.
  TITLE     Comparative structure of human neuronal alpha 2-alpha 7 and beta
            2-beta 4 nicotinic acetylcholine receptor subunits and functional
            expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and
            beta 4 subunits
  JOURNAL   J. Mol. Neurosci. 7 (3), 217-228 (1996)
   PUBMED   8906617
REFERENCE   7  (bases 1 to 4037)
  AUTHORS   Garcia-Colunga J and Miledi R.
  TITLE     Effects of serotonergic agents on neuronal nicotinic acetylcholine
            receptors
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 92 (7), 2919-2923 (1995)
   PUBMED   7708749
REFERENCE   8  (bases 1 to 4037)
  AUTHORS   Wood S, Schertzer M and Yaremko ML.
  TITLE     Identification of the human neuronal nicotinic cholinergic alpha 2
            receptor locus, (CHRNA2), within an 8p21 mapped locus, by sequence
            homology with rat DNA
  JOURNAL   Somat. Cell Mol. Genet. 21 (2), 147-150 (1995)
   PUBMED   7570187
REFERENCE   9  (bases 1 to 4037)
  AUTHORS   Kurahashi,H. and Hirose,S.
  TITLE     Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
  JOURNAL   (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens
            K and Amemiya A (Eds.); GENEREVIEWS((R)); (1993)
   PUBMED   20301348
REFERENCE   10  (bases 1 to 4037)
  AUTHORS   Anand R and Lindstrom J.
  TITLE     Chromosomal localization of seven neuronal nicotinic acetylcholine
            receptor subunit genes in humans
  JOURNAL   Genomics 13 (4), 962-967 (1992)
   PUBMED   1505988
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.124252.1,
            SRR1660809.23572.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2153427 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000407991.3/ ENSP00000385026.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA407151.1, U62431.1,
            DA096824.1, CD013901.1, AF311103.5 and AW292180.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000742.3.
            Summary: Nicotinic acetylcholine receptors (nAChRs) are
            ligand-gated ion channels formed by a pentameric arrangement of
            alpha and beta subunits to create distinct muscle and neuronal
            receptors. Neuronal receptors are found throughout the peripheral
            and central nervous system where they are involved in fast synaptic
            transmission. This gene encodes an alpha subunit that is widely
            expressed in the brain. The proposed structure for nAChR subunits
            is a conserved N-terminal extracellular domain followed by three
            conserved transmembrane domains, a variable cytoplasmic loop, a
            fourth conserved transmembrane domain, and a short C-terminal
            extracellular region. Mutations in this gene cause autosomal
            dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide
            polymorphisms (SNPs) in this gene have been associated with
            nicotine dependence. [provided by RefSeq, Nov 2009].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4037
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.2"
     gene            1..4037
                     /gene="CHRNA2"
                     /note="cholinergic receptor nicotinic alpha 2 subunit"
                     /db_xref="GeneID:1135"
                     /db_xref="HGNC:HGNC:1956"
                     /db_xref="MIM:118502"
     misc_feature    557..559
                     /gene="CHRNA2"
                     /note="upstream in-frame stop codon"
     CDS             575..2164
                     /gene="CHRNA2"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; cholinergic receptor, nicotinic, alpha polypeptide 2
                     (neuronal); cholinergic receptor, nicotinic, alpha 2
                     (neuronal); neuronal acetylcholine receptor subunit
                     alpha-2; acetylcholine receptor, nicotinic, alpha 2
                     (neuronal); cholinergic receptor, nicotinic alpha 2"
                     /codon_start=1
                     /product="neuronal acetylcholine receptor subunit alpha-2
                     isoform 1 precursor"
                     /protein_id="NP_000733.2"
                     /db_xref="CCDS:CCDS6059.1"
                     /db_xref="GeneID:1135"
                     /db_xref="HGNC:HGNC:1956"
                     /db_xref="MIM:118502"
                     /translation="MGPSCPVFLSFTKLSLWWLLLTPAGGEEAKRPPPRAPGDPLSSPS
                     PTALPQGGSHTETEDRLFKHLFRGYNRWARPVPNTSDVVIVRFGLSIAQLIDVDEKNQM
                     MTTNVWLKQEWSDYKLRWNPTDFGNITSLRVPSEMIWIPDIVLYNNADGEFAVTHMTKA
                     HLFSTGTVHWVPPAIYKSSCSIDVTFFPFDQQNCKMKFGSWTYDKAKIDLEQMEQTVDL
                     KDYWESGEWAIVNATGTYNSKKYDCCAEIYPDVTYAFVIRRLPLFYTINLIIPCLLISC
                     LTVLVFYLPSDCGEKITLCISVLLSLTVFLLLITEIIPSTSLVIPLIGEYLLFTMIFVT
                     LSIVITVFVLNVHHRSPSTHTMPHWVRGALLGCVPRWLLMNRPPPPVELCHPLRLKLSP
                     SYHWLESNVDAEEREVVVEEEDRWACAGHVAPSVGTLCSHGHLHSGASGPKAEALLQEG
                     ELLLSPHMQKALEGVHYIADHLRSEDADSSVKEDWKYVAMVIDRIFLWLFIIVCFLGTI
                     GLFLPPFLAGMI"
     sig_peptide     575..661
                     /gene="CHRNA2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      3997..4002
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA2"
                     /note="hexamer: AATAAA"
     regulatory      4010..4015
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA2"
                     /note="hexamer: AATAAA"
     polyA_site      4015
                     /gene="CHRNA2"
                     /note="major polyA site"
     polyA_site      4037
                     /gene="CHRNA2"
ORIGIN
        1 gtgtgtgtgt gtgagagaga gagagaacag cgtgagcctg tgtgcttgtg tgctgagccc
       61 tcatcccctc ctggggccag gcttgggttt cacctgcaga atcgcttgtg ctgggctgcc
      121 tgggctgtcc tcagtggcac ctgcatgaag ccgttctggc tgccagagct ggacagcccc
      181 aggaaaaccc acctctctgc agagcttgcc cagctgtccc cgggaagcca aatgcctctc
      241 atgtaagtct tctgctcgac ggggtgtctc ctaaaccctc actcttcagc ctctgtttga
      301 ccatgaaatg aagtgactga gctctattct gtacctgcca ctctatttct ggggtgactt
      361 ttgtcagctg cccagaatct ccaagccagg ctggttctct gcatcctttc aatgacctgt
      421 tttcttctgt aaccacaggt tcggtggtga gaggaagcct cgcagaatcc agcagaatcc
      481 tcacagaatc cagcagcagc tctgctgggg acatggtcca tggtgcaacc cacagcaaag
      541 ccctgacctg acctcctgat gctcaggaga agccatgggc ccctcctgtc ctgtgttcct
      601 gtccttcaca aagctcagcc tgtggtggct ccttctgacc ccagcaggtg gagaggaagc
      661 taagcgccca cctcccaggg ctcctggaga cccactctcc tctcccagtc ccacggcatt
      721 gccgcaggga ggctcgcata ccgagactga ggaccggctc ttcaaacacc tcttccgggg
      781 ctacaaccgc tgggcgcgcc cggtgcccaa cacttcagac gtggtgattg tgcgctttgg
      841 actgtccatc gctcagctca tcgatgtgga tgagaagaac caaatgatga ccaccaacgt
      901 ctggctaaaa caggagtgga gcgactacaa actgcgctgg aaccccactg attttggcaa
      961 catcacatct ctcagggtcc cttctgagat gatctggatc cccgacattg ttctctacaa
     1021 caatgcagat ggggagtttg cagtgaccca catgaccaag gcccacctct tctccacggg
     1081 cactgtgcac tgggtgcccc cggccatcta caagagctcc tgcagcatcg acgtcacctt
     1141 cttccccttc gaccagcaga actgcaagat gaagtttggc tcctggactt atgacaaggc
     1201 caagatcgac ctggagcaga tggagcagac tgtggacctg aaggactact gggagagcgg
     1261 cgagtgggcc atcgtcaatg ccacgggcac ctacaacagc aagaagtacg actgctgcgc
     1321 cgagatctac cccgacgtca cctacgcctt cgtcatccgg cggctgccgc tcttctacac
     1381 catcaacctc atcatcccct gcctgctcat ctcctgcctc actgtgctgg tcttctacct
     1441 gccctccgac tgcggcgaga agatcacgct gtgcatttcg gtgctgctgt cactcaccgt
     1501 cttcctgctg ctcatcactg agatcatccc gtccacctcg ctggtcatcc cgctcatcgg
     1561 cgagtacctg ctgttcacca tgatcttcgt caccctgtcc atcgtcatca ccgtcttcgt
     1621 gctcaatgtg caccaccgct cccccagcac ccacaccatg ccccactggg tgcggggggc
     1681 ccttctgggc tgtgtgcccc ggtggcttct gatgaaccgg cccccaccac ccgtggagct
     1741 ctgccacccc ctacgcctga agctcagccc ctcttatcac tggctggaga gcaacgtgga
     1801 tgccgaggag agggaggtgg tggtggagga ggaggacaga tgggcatgtg caggtcatgt
     1861 ggccccctct gtgggcaccc tctgcagcca cggccacctg cactctgggg cctcaggtcc
     1921 caaggctgag gctctgctgc aggagggtga gctgctgcta tcaccccaca tgcagaaggc
     1981 actggaaggt gtgcactaca ttgccgacca cctgcggtct gaggatgctg actcttcggt
     2041 gaaggaggac tggaagtatg ttgccatggt catcgacagg atcttcctct ggctgtttat
     2101 catcgtctgc ttcctgggga ccatcggcct ctttctgcct ccgttcctag ctggaatgat
     2161 ctgactgcac ctccctcgag ctggctccca gggcaccccc gctgaccatc ttttgaccgt
     2221 ctctgctaca gctgcctctg gtgtcccctt tgggatgagc aggtgcctct ccgcggagtc
     2281 tggacactga cccagggatt gcaggcttcc atccagctta acgttattgt accagggctg
     2341 acagcctgct gggtgcaaag ccctgttttg gatacggagg agctggggaa gctctgcaga
     2401 aggtcgcaat agtgtggtga ccaagtgggg cagagtaaga ttctcctgga ggagcagtgc
     2461 agaccctaag tgacagaagg gtcaaccagg gggacagtgg ggccagggtg acgaggaagg
     2521 gaatgcagac ctcaaaggag gggccgtggg ggcaaagggg agggttcttg gatgtggaag
     2581 ggctttgaac aatgtttaga tttggagatg agcccaaagt gccagggaga acagccaggt
     2641 gaggtgggag gttggagagc caggtgaggt ctctgtaagt caggctgggg ttgaagtttg
     2701 gagtctgtcc gagtttgcag ggtgctgagc tgtatggtcc agcaggggag taataagggc
     2761 tcttctggaa ggggaggaag cgggaggcag ggcctgcacc tgatgtggag gtacagggca
     2821 gatcttccct accggggagg gatggatggt tggatacagg tggctgggct attccatcca
     2881 tctggaagca catttgagcc tccaggcttc tccttgacgt cattcctctc cttccttgct
     2941 gcaaaatggc tctgcaccag ccggccccca ggaggtctgg cagagctgag agccatggcc
     3001 tgcaggggct ccatatgtcc ctacgcgtgc agcaggcaaa caagaaagac catcctgagc
     3061 tgctcctgac ccacctcaaa ctcatctcat ttggcctgtc ctccctccct tcacccctcc
     3121 ttccctcccc aggaaccctg ttccctgtgc ctggctccat caggaggagg cctcacttgg
     3181 gagttgaaga tctttgcctt tagttccttt gattctgaac ttctcaaagg caggtactct
     3241 gcctgttatt tttcccaccc ccagcaccta gcacagcgcc gggtgagtgg ggtcagcact
     3301 tagggcgttt gttctgagtg gttgagggga gcaagctgga ttgtttgggc cccaggactg
     3361 ttgtgtagat ggcaaagctg tggtcccgtc ccttatcagc ctgcctcgtc tctcccagag
     3421 ccccgaggtg tgttgacctg ctctgaaccc ttcagagcag cctgtgtgtg caccttggaa
     3481 tgcaatgcac caccccacag tctgaggctg cacccaggat cccaggccga gctgctgctc
     3541 ctgggatcgg gcaacagacc tccccccaac tctgtccaga ctggagggtg ggacattggc
     3601 agctaacaga tgtgggcatc gggttctcgg gacagcatgg aggctccagg caggaagccg
     3661 agcagggcga gcttccagtt tccttttggt cctaggggtc ccctccttcc aaaccccaaa
     3721 atgtctctcc ctgacactct caggggaaac cagcctggct gtgacgccct ggcccaggcc
     3781 ctgccatgcc tcacttctct cccacaaccc ccctgctcat ggcacatctg gtctctggct
     3841 cctgtctact cgtgtgcatg cagcccccag cgccccctct cctcccactt gctctccgga
     3901 ggcctcagag ctctcgggtc caggctccca gacccactct cctgagacag tgatgttcac
     3961 ttctgttatc catgtctccc atccatcttg catgtgaata aagagattaa ataaagctgc
     4021 acctactgct gactcaa
//
LOCUS       NM_000743               3015 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens cholinergic receptor nicotinic alpha 3 subunit
            (CHRNA3), transcript variant 1, mRNA.
ACCESSION   NM_000743
VERSION     NM_000743.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3015)
  AUTHORS   Chmielowiec K, Chmielowiec J, Stronska-Pluta A, Trybek G, Smiarowska
            M, Suchanecka A, Wozniak G, Jaron A and Grzywacz A.
  TITLE     Association of Polymorphism CHRNA5 and CHRNA3 Gene in People
            Addicted to Nicotine
  JOURNAL   Int J Environ Res Public Health 19 (17), 10478 (2022)
   PUBMED   36078193
  REMARK    GeneRIF: Association of Polymorphism CHRNA5 and CHRNA3 Gene in
            People Addicted to Nicotine. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3015)
  AUTHORS   Kitazaki Y, Ikawa M, Kishitani T, Kamisawa T, Nakane S, Nakamoto Y
            and Hamano T.
  TITLE     Progressive Encephalomyelitis with Rigidity and Myoclonus
            (PERM)-like Symptoms Associated with Anti-ganglionic Acetylcholine
            Receptor Antibodies
  JOURNAL   Intern Med 60 (14), 2307-2313 (2021)
   PUBMED   33583893
  REMARK    GeneRIF: Progressive Encephalomyelitis with Rigidity and Myoclonus
            (PERM)-like Symptoms Associated with Anti-ganglionic Acetylcholine
            Receptor Antibodies.
REFERENCE   3  (bases 1 to 3015)
  AUTHORS   Shibao CA, Joos K, Phillips JA 3rd, Cogan J, Newman JH, Hamid R,
            Meiler J, Capra J, Sheehan J, Vetrini F, Yang Y, Black B, Diedrich
            A, Roberston D and Biaggioni I.
  TITLE     Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic
            Variants
  JOURNAL   Neurology 97 (2), e145-e155 (2021)
   PUBMED   33947782
  REMARK    GeneRIF: Familial Autonomic Ganglionopathy Caused by Rare CHRNA3
            Genetic Variants.
REFERENCE   4  (bases 1 to 3015)
  AUTHORS   Yi X, Li W, Wang Y, Chen X, Ye F, Sun G and Chen J.
  TITLE     The relationship between CHRNA5/A3/B4 gene cluster polymorphisms and
            lung cancer risk: An updated meta-analysis and systematic review
  JOURNAL   Medicine (Baltimore) 100 (6), e24355 (2021)
   PUBMED   33578531
  REMARK    GeneRIF: The relationship between CHRNA5/A3/B4 gene cluster
            polymorphisms and lung cancer risk: An updated meta-analysis and
            systematic review.
REFERENCE   5  (bases 1 to 3015)
  AUTHORS   Elliott KJ, Ellis SB, Berckhan KJ, Urrutia A, Chavez-Noriega LE,
            Johnson EC, Velicelebi G and Harpold MM.
  TITLE     Comparative structure of human neuronal alpha 2-alpha 7 and beta
            2-beta 4 nicotinic acetylcholine receptor subunits and functional
            expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and
            beta 4 subunits
  JOURNAL   J Mol Neurosci 7 (3), 217-228 (1996)
   PUBMED   8906617
REFERENCE   6  (bases 1 to 3015)
  AUTHORS   Raimondi E, Rubboli F, Moralli D, Chini B, Fornasari D, Tarroni P,
            De Carli L and Clementi F.
  TITLE     Chromosomal localization and physical linkage of the genes encoding
            the human alpha 3, alpha 5, and beta 4 neuronal nicotinic receptor
            subunits
  JOURNAL   Genomics 12 (4), 849-850 (1992)
   PUBMED   1572664
REFERENCE   7  (bases 1 to 3015)
  AUTHORS   Eng CM, Kozak CA, Beaudet AL and Zoghbi HY.
  TITLE     Mapping of multiple subunits of the neuronal nicotinic acetylcholine
            receptor to chromosome 15 in man and chromosome 9 in mouse
  JOURNAL   Genomics 9 (2), 278-282 (1991)
   PUBMED   2004777
REFERENCE   8  (bases 1 to 3015)
  AUTHORS   Mihovilovic M and Roses AD.
  TITLE     Expression of mRNAs in human thymus coding for the alpha 3 subunit
            of a neuronal acetylcholine receptor
  JOURNAL   Exp Neurol 111 (2), 175-180 (1991)
   PUBMED   1989896
REFERENCE   9  (bases 1 to 3015)
  AUTHORS   Papke RL and Heinemann SF.
  TITLE     The role of the beta 4-subunit in determining the kinetic properties
            of rat neuronal nicotinic acetylcholine alpha 3-receptors
  JOURNAL   J Physiol 440, 95-112 (1991)
   PUBMED   1725184
REFERENCE   10  (bases 1 to 3015)
  AUTHORS   Fornasari D, Chini B, Tarroni P and Clementi F.
  TITLE     Molecular cloning of human neuronal nicotinic receptor alpha
            3-subunit
  JOURNAL   Neurosci Lett 111 (3), 351-356 (1990)
   PUBMED   2336208
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC098443.1, SRR1660805.149200.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: downstream AUG is associated
            with N-terminal localization signal
            MANE Ensembl match :: ENST00000326828.6/ ENSP00000315602.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC006114.1, BC002996.1,
            AC027228.16, BM666615.1 and AI833126.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000743.4.
            Summary: This locus encodes a member of the nicotinic acetylcholine
            receptor family of proteins. Members of this family of proteins
            form pentameric complexes comprised of both alpha and beta
            subunits. This locus encodes an alpha-type subunit, as it contains
            characteristic adjacent cysteine residues. The encoded protein is a
            ligand-gated ion channel that likely plays a role in
            neurotransmission. Polymorphisms in this gene have been associated
            with an increased risk of smoking initiation and an increased
            susceptibility to lung cancer. Alternatively spliced transcript
            variants have been described. [provided by RefSeq, Nov 2009].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3015
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.1"
     gene            1..3015
                     /gene="CHRNA3"
                     /gene_synonym="BAIPRCK; LNCR2; NACHRA3; PAOD2"
                     /note="cholinergic receptor nicotinic alpha 3 subunit"
                     /db_xref="GeneID:1136"
                     /db_xref="HGNC:HGNC:1957"
                     /db_xref="MIM:118503"
     misc_feature    8..10
                     /gene="CHRNA3"
                     /gene_synonym="BAIPRCK; LNCR2; NACHRA3; PAOD2"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MVPVLPRVRGRWKPSGGEAERSPARLRPHGSRSGVCAGAARGEAVSATAAPAPDRPGP
                     RPARPPA"
     CDS             203..1720
                     /gene="CHRNA3"
                     /gene_synonym="BAIPRCK; LNCR2; NACHRA3; PAOD2"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; cholinergic receptor, nicotinic, alpha polypeptide 3;
                     neuronal nicotinic acetylcholine receptor, alpha3 subunit;
                     cholinergic receptor, nicotinic, alpha 3 (neuronal);
                     cholinergic receptor, nicotinic alpha 3"
                     /codon_start=1
                     /product="neuronal acetylcholine receptor subunit alpha-3
                     isoform 1 precursor"
                     /protein_id="NP_000734.2"
                     /db_xref="CCDS:CCDS10305.1"
                     /db_xref="GeneID:1136"
                     /db_xref="HGNC:HGNC:1957"
                     /db_xref="MIM:118503"
                     /translation="MGSGPLSLPLALSPPRLLLLLLLSLLPVARASEAEHRLFERLFED
                     YNEIIRPVANVSDPVIIHFEVSMSQLVKVDEVNQIMETNLWLKQIWNDYKLKWNPSDYG
                     GAEFMRVPAQKIWKPDIVLYNNAVGDFQVDDKTKALLKYTGEVTWIPPAIFKSSCKIDV
                     TYFPFDYQNCTMKFGSWSYDKAKIDLVLIGSSMNLKDYWESGEWAIIKAPGYKHDIKYN
                     CCEEIYPDITYSLYIRRLPLFYTINLIIPCLLISFLTVLVFYLPSDCGEKVTLCISVLL
                     SLTVFLLVITETIPSTSLVIPLIGEYLLFTMIFVTLSIVITVFVLNVHYRTPTTHTMPS
                     WVKTVFLNLLPRVMFMTRPTSNEGNAQKPRPLYGAELSNLNCFSRAESKGCKEGYPCQD
                     GMCGYCHHRRIKISNFSANLTRSSSSESVDAVLSLSALSPEIKEAIQSVKYIAENMKAQ
                     NEAKEIQDDWKYVAMVIDRIFLWVFTLVCILGTAGLFLQPLMAREDA"
     sig_peptide     203..295
                     /gene="CHRNA3"
                     /gene_synonym="BAIPRCK; LNCR2; NACHRA3; PAOD2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     296..1717
                     /gene="CHRNA3"
                     /gene_synonym="BAIPRCK; LNCR2; NACHRA3; PAOD2"
                     /product="Neuronal acetylcholine receptor subunit alpha-3.
                     /id=PRO_0000000346"
                     /note="propagated from UniProtKB/Swiss-Prot (P32297.4)"
     misc_feature    365..367
                     /gene="CHRNA3"
                     /gene_synonym="BAIPRCK; LNCR2; NACHRA3; PAOD2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P32297.4); glycosylation site"
     misc_feature    716..718
                     /gene="CHRNA3"
                     /gene_synonym="BAIPRCK; LNCR2; NACHRA3; PAOD2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P32297.4); glycosylation site"
     misc_feature    923..997
                     /gene="CHRNA3"
                     /gene_synonym="BAIPRCK; LNCR2; NACHRA3; PAOD2"
                     /note="propagated from UniProtKB/Swiss-Prot (P32297.4);
                     transmembrane region"
     misc_feature    1019..1075
                     /gene="CHRNA3"
                     /gene_synonym="BAIPRCK; LNCR2; NACHRA3; PAOD2"
                     /note="propagated from UniProtKB/Swiss-Prot (P32297.4);
                     transmembrane region"
     misc_feature    1121..1186
                     /gene="CHRNA3"
                     /gene_synonym="BAIPRCK; LNCR2; NACHRA3; PAOD2"
                     /note="propagated from UniProtKB/Swiss-Prot (P32297.4);
                     transmembrane region"
     misc_feature    1439..1441
                     /gene="CHRNA3"
                     /gene_synonym="BAIPRCK; LNCR2; NACHRA3; PAOD2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04757; propagated from
                     UniProtKB/Swiss-Prot (P32297.4); phosphorylation site"
     misc_feature    1448..1450
                     /gene="CHRNA3"
                     /gene_synonym="BAIPRCK; LNCR2; NACHRA3; PAOD2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04757; propagated from
                     UniProtKB/Swiss-Prot (P32297.4); phosphorylation site"
     misc_feature    1634..1693
                     /gene="CHRNA3"
                     /gene_synonym="BAIPRCK; LNCR2; NACHRA3; PAOD2"
                     /note="propagated from UniProtKB/Swiss-Prot (P32297.4);
                     transmembrane region"
     regulatory      2995..3000
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA3"
                     /gene_synonym="BAIPRCK; LNCR2; NACHRA3; PAOD2"
                     /note="hexamer: AATAAA"
     polyA_site      3015
                     /gene="CHRNA3"
                     /gene_synonym="BAIPRCK; LNCR2; NACHRA3; PAOD2"
                     /note="major polyA site"
ORIGIN
        1 actccggatg gttcctgtcc tcccgcgggt ccgagggcgc tggaaaccca gcggcggcga
       61 agcggagagg agccccgcgc gtctccgccc gcacggctcc aggtctgggg tctgcgctgg
      121 agccgcgcgg ggagaggccg tctctgcgac cgccgcgccc gctcccgacc gtccgggtcc
      181 gcggccagcc cggccaccag ccatgggctc tggcccgctc tcgctgcccc tggcgctgtc
      241 gccgccgcgg ctgctgctgc tgctgctgct gtctctgctg ccagtggcca gggcctcaga
      301 ggctgagcac cgtctatttg agcggctgtt tgaagattac aatgagatca tccggcctgt
      361 agccaacgtg tctgacccag tcatcatcca tttcgaggtg tccatgtctc agctggtgaa
      421 ggtggatgaa gtaaaccaga tcatggagac caacctgtgg ctcaagcaaa tctggaatga
      481 ctacaagctg aaatggaacc cctctgacta tggtggggca gagttcatgc gtgtccctgc
      541 acagaagatc tggaagccag acattgtgct gtataacaat gctgttgggg atttccaggt
      601 ggacgacaag accaaagcct tactcaagta cactggggag gtgacttgga tacctccggc
      661 catctttaag agctcctgta aaatcgacgt gacctacttc ccgtttgatt accaaaactg
      721 taccatgaag ttcggttcct ggtcctacga taaggcgaaa atcgatctgg tcctgatcgg
      781 ctcttccatg aacctcaagg actattggga gagcggcgag tgggccatca tcaaagcccc
      841 aggctacaaa cacgacatca agtacaactg ctgcgaggag atctaccccg acatcacata
      901 ctcgctgtac atccggcgcc tgcccttgtt ctacaccatc aacctcatca tcccctgcct
      961 gctcatctcc ttcctcactg tgctcgtctt ctacctgccc tccgactgcg gtgagaaggt
     1021 gaccctgtgc atttctgtcc tcctctccct gacggtgttt ctcctggtga tcactgagac
     1081 catcccttcc acctcgctgg tcatccccct gattggagag tacctcctgt tcaccatgat
     1141 ttttgtaacc ttgtccatcg tcatcaccgt cttcgtgctc aacgtgcact acagaacccc
     1201 gacgacacac acaatgccct catgggtgaa gactgtattc ttgaacctgc tccccagggt
     1261 catgttcatg accaggccaa caagcaacga gggcaacgct cagaagccga ggcccctcta
     1321 cggtgccgag ctctcaaatc tgaattgctt cagccgcgca gagtccaaag gctgcaagga
     1381 gggctacccc tgccaggacg ggatgtgtgg ttactgccac caccgcagga taaaaatctc
     1441 caatttcagt gctaacctca cgagaagctc tagttctgaa tctgttgatg ctgtgctgtc
     1501 cctctctgct ttgtcaccag aaatcaaaga agccatccaa agtgtcaagt atattgctga
     1561 aaatatgaaa gcacaaaatg aagccaaaga gattcaagat gattggaagt atgttgccat
     1621 ggtgattgat cgtatttttc tgtgggtttt caccctggtg tgcattctag ggacagcagg
     1681 attgtttctg caacccctga tggccaggga agatgcataa gcactaagct gtgtgcctgc
     1741 ctgggagact tccttgtgtc agggcaggag gaggctgctt cctagtaaga acgtactttc
     1801 tgttatcaag ctaccagctt tgtttttggc atttcgaggt ttacttattt tccacttatc
     1861 ttggaatcat gcaaaaaaaa aaatgtcaag agtatttatt accgataaat gaacatttaa
     1921 ctagcctttt tggtatggta aagagatgtc aaaatgtgat tctatgtgat tagtatgcta
     1981 tgctatggaa tatacatgta aaaatgtttc cttttagttg ttgaaacaaa actggataga
     2041 aaaatgctgt tcagaaatat gaaaagtcat tcagttatca ctacagatct cccagtaatt
     2101 tttcttattt agcccataat ctctttgaag gtttatacta attcagcaat cccccatcgt
     2161 tacccatttc ttaccatgca tttctcgttc tttactgggt ctaaagggct atgcctccat
     2221 ttcagagagc ttcaactact tctcttgcat acttctaaat tataccatga gaaatcatgc
     2281 ctagttattc attgttaata taactgtctt agtacaccat aaactgggtg gattataaac
     2341 aacagaaact tctcagtttt ggaggttggg aggtccaagg tcaaggcacc agcaaatttg
     2401 gtgtctggtg agggtcctct tcctcaaagg gtgccttcta gctgtgtcct cacatgactg
     2461 aagggactag ctatctctgt ggggtctatt ttataagggc actaacccca ttcatgagag
     2521 cagagccccc atggcctaat cacctttcca aggccccacc ttctatctaa gacaatcacg
     2581 ctgggaatag gtttcaacat atgaattggg ggaggacaca tttggaccac agcatgaacc
     2641 tttagaacag ggtttctcag ccttagcact atggacattt tgggctggat aaatatgtgt
     2701 tggtacagaa tgggggtatc ctgtgcattg taggatcttt agcagtaccc tagcctcaac
     2761 tcactagatg ccaatgacat accttgcttc ttcaccagtt atgataacca agaatgtctc
     2821 cattgttaaa tgttccctta ggagcaaaat tgcccctggt tgagaaacat tgctttagac
     2881 aaattgttaa gagtatcatg tactacactt ctgaaactta acgtgatcat caccactgac
     2941 agatgattca cagagactgt ttgaatcttg tctcactagt ttttcctgtg caaaaataaa
     3001 atggacagaa ttgca
//
LOCUS       NM_000744               5583 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens cholinergic receptor nicotinic alpha 4 subunit
            (CHRNA4), transcript variant 1, mRNA.
ACCESSION   NM_000744
VERSION     NM_000744.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5583)
  AUTHORS   Guo L, Zhang Y, Lu J, Li X, Zhang C, Song W, Dong Y, Zhou X and Li
            R.
  TITLE     Nicotine promotes renal interstitial fibrosis via upregulation of
            XIAP in an alpha7-nAChR-dependent manner
  JOURNAL   Mol Cell Endocrinol 576, 111989 (2023)
   PUBMED   37451424
  REMARK    GeneRIF: Nicotine promotes renal interstitial fibrosis via
            upregulation of XIAP in an alpha7-nAChR-dependent manner.
REFERENCE   2  (bases 1 to 5583)
  AUTHORS   Nielsen TO, Herlin MK, Linnet KM, Beniczky S, Sommerlund M,
            Granild-Jensen JB and Gregersen PA.
  TITLE     Autosomal dominant sleep-related hypermotor epilepsy caused by a
            previously unreported CHRNA4 variant
  JOURNAL   Eur J Med Genet 65 (3), 104444 (2022)
   PUBMED   35093606
  REMARK    GeneRIF: Autosomal dominant sleep-related hypermotor epilepsy caused
            by a previously unreported CHRNA4 variant.
REFERENCE   3  (bases 1 to 5583)
  AUTHORS   Weltzin MM, George AA, Lukas RJ and Whiteaker P.
  TITLE     Sleep-related hypermotor epilepsy associated mutations uncover
            important kinetic roles of alpha4beta2- nicotinic acetylcholine
            receptor intracellular structures
  JOURNAL   PLoS One 16 (3), e0247825 (2021)
   PUBMED   33657187
  REMARK    GeneRIF: Sleep-related hypermotor epilepsy associated mutations
            uncover important kinetic roles of alpha4beta2- nicotinic
            acetylcholine receptor intracellular structures. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 5583)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 5583)
  AUTHORS   Eggert M, Aichinger E, Pfaffl MW, Steinlein OK and Pfob M.
  TITLE     Nicotinic acetylcholine receptor subunits alpha4 and alpha5
            associated with smoking behaviour and lung cancer are regulated by
            upstream open reading frames
  JOURNAL   PLoS One 8 (7), e66157 (2013)
   PUBMED   23843950
  REMARK    GeneRIF: Nicotinic acetylcholine receptor subunits alpha4 and alpha5
            associated with smoking behavior and lung cancer are regulated by
            upstream open reading frames. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5583)
  AUTHORS   Phillips,H.A., Scheffer,I.E., Berkovic,S.F., Hollway,G.E.,
            Sutherland,G.R. and Mulley,J.C.
  TITLE     Localization of a gene for autosomal dominant nocturnal frontal lobe
            epilepsy to chromosome 20q 13.2
  JOURNAL   Nat Genet 10 (1), 117-118 (1995)
   PUBMED   7647781
REFERENCE   7  (bases 1 to 5583)
  AUTHORS   Kurahashi,H. and Hirose,S.
  TITLE     Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301348
REFERENCE   8  (bases 1 to 5583)
  AUTHORS   Pilz AJ, Willer E, Povey S and Abbott CM.
  TITLE     The genes coding for phosphoenolpyruvate carboxykinase-1 (PCK1) and
            neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4)
            map to human chromosome 20, extending the known region of homology
            with mouse chromosome 2
  JOURNAL   Ann Hum Genet 56 (4), 289-293 (1992)
   PUBMED   1492743
REFERENCE   9  (bases 1 to 5583)
  AUTHORS   Anand R and Lindstrom J.
  TITLE     Chromosomal localization of seven neuronal nicotinic acetylcholine
            receptor subunit genes in humans
  JOURNAL   Genomics 13 (4), 962-967 (1992)
   PUBMED   1505988
REFERENCE   10  (bases 1 to 5583)
  AUTHORS   McLane KE, Wu XD and Conti-Tronconi BM.
  TITLE     Identification of a brain acetylcholine receptor alpha subunit able
            to bind alpha-bungarotoxin
  JOURNAL   J Biol Chem 265 (17), 9816-9824 (1990)
   PUBMED   2351675
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC096290.1, L35901.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370263.9/ ENSP00000359285.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            regulatory uORF             :: PMID: 23843950
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U62433.1, AL121827.34,
            L35901.1, BC096291.1, AK296430.1 and AB209359.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 27, 2020 this sequence version replaced NM_000744.6.
            Summary: This gene encodes a nicotinic acetylcholine receptor,
            which belongs to a superfamily of ligand-gated ion channels that
            play a role in fast signal transmission at synapses. These
            pentameric receptors can bind acetylcholine, which causes an
            extensive change in conformation that leads to the opening of an
            ion-conducting channel across the plasma membrane. This protein is
            an integral membrane receptor subunit that can interact with either
            nAChR beta-2 or nAChR beta-4 to form a functional receptor.
            Mutations in this gene cause nocturnal frontal lobe epilepsy type
            1. Polymorphisms in this gene that provide protection against
            nicotine addiction have been described. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Feb
            2012].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..5583
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.33"
     gene            1..5583
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="cholinergic receptor nicotinic alpha 4 subunit"
                     /db_xref="GeneID:1137"
                     /db_xref="HGNC:HGNC:1958"
                     /db_xref="MIM:118504"
     regulatory      104..163
                     /regulatory_class="uORF"
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:23843950]"
                     /note="this uORF is predicted to encode a 19 aa peptide
                     (PMID:23843950)"
     misc_feature    161..163
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="upstream in-frame stop codon"
     CDS             185..2068
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; cholinergic receptor, nicotinic, alpha polypeptide 4;
                     neuronal acetylcholine receptor subunit alpha-4; neuronal
                     nicotinic acetylcholine receptor alpha-4 subunit;
                     cholinergic receptor, nicotinic, alpha 4 (neuronal);
                     cholinergic receptor, nicotinic alpha 4"
                     /codon_start=1
                     /product="neuronal acetylcholine receptor subunit alpha-4
                     isoform 1 precursor"
                     /protein_id="NP_000735.1"
                     /db_xref="CCDS:CCDS13517.1"
                     /db_xref="GeneID:1137"
                     /db_xref="HGNC:HGNC:1958"
                     /db_xref="MIM:118504"
                     /translation="MELGGPGAPRLLPPLLLLLGTGLLRASSHVETRAHAEERLLKKLF
                     SGYNKWSRPVANISDVVLVRFGLSIAQLIDVDEKNQMMTTNVWVKQEWHDYKLRWDPAD
                     YENVTSIRIPSELIWRPDIVLYNNADGDFAVTHLTKAHLFHDGRVQWTPPAIYKSSCSI
                     DVTFFPFDQQNCTMKFGSWTYDKAKIDLVNMHSRVDQLDFWESGEWVIVDAVGTYNTRK
                     YECCAEIYPDITYAFVIRRLPLFYTINLIIPCLLISCLTVLVFYLPSECGEKITLCISV
                     LLSLTVFLLLITEIIPSTSLVIPLIGEYLLFTMIFVTLSIVITVFVLNVHHRSPRTHTM
                     PTWVRRVFLDIVPRLLLMKRPSVVKDNCRRLIESMHKMASAPRFWPEPEGEPPATSGTQ
                     SLHPPSPSFCVPLDVPAEPGPSCKSPSDQLPPQQPLEAEKASPHPSPGPCRPPHGTQAP
                     GLAKARSLSVQHMSSPGEAVEGGVRCRSRSIQYCVPRDDAAPEADGQAAGALASRNTHS
                     AELPPPDQPSPCKCTCKKEPSSVSPSATVKTRSTKAPPPHLPLSPALTRAVEGVQYIAD
                     HLKAEDTDFSVKEDWKYVAMVIDRIFLWMFIIVCLLGTVGLFLPPWLAGMI"
     sig_peptide     185..268
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P43681.2)"
     mat_peptide     269..2065
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /product="Neuronal acetylcholine receptor subunit alpha-4.
                     /id=PRO_0000000351"
                     /note="propagated from UniProtKB/Swiss-Prot (P43681.2)"
     misc_feature    353..355
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P43681.2); glycosylation site"
     misc_feature    503..505
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P43681.2); glycosylation site"
     misc_feature    704..706
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P43681.2); glycosylation site"
     misc_feature    911..985
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P43681.2);
                     transmembrane region"
     misc_feature    1007..1063
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P43681.2);
                     transmembrane region"
     misc_feature    1109..1174
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P43681.2);
                     transmembrane region"
     misc_feature    1328..1627
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P43681.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1454..1456
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P09483; propagated from
                     UniProtKB/Swiss-Prot (P43681.2); phosphorylation site"
     misc_feature    1670..1867
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P43681.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1796..1798
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O70174; propagated from
                     UniProtKB/Swiss-Prot (P43681.2); phosphorylation site"
     misc_feature    1805..1807
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O70174; propagated from
                     UniProtKB/Swiss-Prot (P43681.2); phosphorylation site"
     misc_feature    1985..2041
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P43681.2);
                     transmembrane region"
     regulatory      4711..4716
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="hexamer: AATAAA"
     polyA_site      4738
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="major polyA site"
     regulatory      5564..5569
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
                     /note="hexamer: AATAAA"
     polyA_site      5583
                     /gene="CHRNA4"
                     /gene_synonym="BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4"
ORIGIN
        1 gcccacagcc cggcgctccc tgccgcgccg ccgccgcacc gcgccccaca ggagaagacg
       61 aaccgggccc ggcggccgaa gcggcccgcg aggcgcggga ggcatgaagt tgggcgcgca
      121 cgggcctcga agcggcgggg agccgggagc cgcccgcatc tagagcccgc gaggtgcgtg
      181 cgccatggag ctagggggcc ccggagcgcc gcggctgctg ccgccgctgc tgctgcttct
      241 ggggaccggc ctcctgcgcg ccagcagcca tgtggagacc cgggcccacg ccgaggagcg
      301 gctcctgaag aaactcttct ccggttacaa caagtggtcc cgacccgtgg ccaacatctc
      361 ggacgtggtc ctcgtccgct tcggcctgtc catcgctcag ctcattgacg tggatgagaa
      421 gaaccagatg atgaccacga acgtatgggt gaagcaggag tggcacgact acaagctgcg
      481 ctgggaccca gctgactatg agaatgtcac ctccatccgc atcccctccg agctcatctg
      541 gcggccggac atcgtcctct acaacaatgc tgacggggac ttcgcggtca cccacctgac
      601 caaggcccac ctgttccatg acgggcgggt gcagtggact cccccggcca tttacaagag
      661 ctcctgcagc atcgacgtca ccttcttccc cttcgaccag cagaactgca ccatgaaatt
      721 cggctcctgg acctacgaca aggccaagat cgacctggtg aacatgcaca gccgcgtgga
      781 ccagctggac ttctgggaga gtggcgagtg ggtcatcgtg gatgccgtgg gcacctacaa
      841 caccaggaag tacgagtgct gtgccgagat ctacccggac atcacctatg ccttcgtcat
      901 ccggcggctg ccgctcttct acaccatcaa cctcatcatc ccctgcctgc tcatctcctg
      961 cctcaccgtg ctggtcttct acctgccctc cgagtgtggc gagaagatca cgctgtgcat
     1021 ctccgtgctg ctgtcgctca ccgtcttcct gctgctcatc accgagatca tcccgtccac
     1081 ctcactggtc atcccactca tcggcgagta cctgctgttc accatgatct tcgtcaccct
     1141 gtccatcgtc atcacggtct tcgtgctcaa cgtgcaccac cgctcgccac gcacgcacac
     1201 catgcccacc tgggtacgca gggtcttcct ggacatcgtg ccacgcctgc tcctcatgaa
     1261 gcggccgtcc gtggtcaagg acaattgccg gcggctcatc gagtccatgc ataagatggc
     1321 cagtgccccg cgcttctggc ccgagccaga aggggagccc cctgccacga gcggcaccca
     1381 gagcctgcac ccgccctcac cgtccttctg tgtccccctg gatgtgccgg ctgagcctgg
     1441 gccttcctgc aagtcaccct ccgaccagct ccctcctcag cagcccctgg aagctgagaa
     1501 agccagcccc cacccctcgc ctggaccctg ccgcccgccc cacggcaccc aggcaccagg
     1561 gctggccaaa gccaggtccc tcagcgtcca gcacatgtcc agccctggcg aagcggtgga
     1621 aggcggcgtc cggtgccggt ctcggagcat ccagtactgt gttccccgag acgatgccgc
     1681 ccccgaggca gatggccagg ctgccggcgc cctggcctct cgcaacaccc actcggctga
     1741 gctcccaccc ccagaccagc cctctccgtg caaatgcaca tgcaagaagg agccctcttc
     1801 ggtgtccccg agcgccacgg tcaagacccg cagcaccaaa gcgccgcccc cgcacctgcc
     1861 cctgtcgccg gccctgaccc gggcggtgga gggcgtccag tacattgcag accacctgaa
     1921 ggccgaagac acagacttct cggtgaagga ggactggaag tacgtggcca tggtcatcga
     1981 ccgcatcttc ctctggatgt tcatcatcgt ctgcctgctg gggacggtgg gcctcttcct
     2041 gccgccctgg ctggctggca tgatctagga agggaccggg agcctgcgtg gcctggggct
     2101 gccgtgcacg gggccagcat ccatgcggcc ggcctggggc cgggctggct tctccctgga
     2161 ctctgtgggg ccacacgttt gccaaatttt ccttcctgtt ctgtgtctgc tgtaagacgg
     2221 ccttggacgg ggacacggcc tctggggaga ccgagtgtgg agctgcttcc agttggactg
     2281 tggcctcagg aggcagtggc ttggagcaga ggtgggggtc ggcgccttct acctgcagga
     2341 ctcgggctaa gtccagttca agagtctcct gagctcccct gcagatggaa ctcactcctc
     2401 ccagtctctc agcagatctg gtgatggtcc cgaccgcccc aaggggccct tgaagggagt
     2461 tcacgcccct tcagccccaa gcgccccgtc ttctggaggc ccggccgcct ctcccaccca
     2521 ccgtgtcctg cgcctgtgtg ggcttcaact tctcccccag ggtccttgag cctctcgggc
     2581 cccatgaggg tgagccagca gcgctccaat ctgcttcgct aggagagggt ccaggcaggg
     2641 attgtgtttg gttgtgtttt gggtaagtta gtgagaactc aagtcttgtg cctaaggagc
     2701 cttggagaac agagttttgt ggagctggtt ccgcgtgggg agaatcggga ggcccacgcg
     2761 ggaccagctc tcccctgcgc aggccctccg cgggggacag gaacacccag ccccagcgag
     2821 tctggagacc aggactctgc cttccaggcg tagggccagg gctctggcag gtggccaggg
     2881 ctccacgggg gcctagtggc ttcagcccct ggggtacttc tgtgttgtga ttccccggag
     2941 ctgggaaggt cccgaatgga gtccagacct gggccctggt tcccccagga ccctgagggt
     3001 ttccaccttg gcgcgcagcc cgggagatcc gccctgggct ctgggttcgg gaagaaggac
     3061 ttcctgctac agtagctgtg gggagctggt gggggcatcc ttgaggacct ccacctggga
     3121 gatgctggga ccctcggggc aggaagtccc tgagaagcct catgggagtc agggagccct
     3181 ggggtttcca cacaggccca tgccctccgt cctggcaggg caggcagagc tcagcacagc
     3241 ctcacccctg caggcggtat ccagaggtga gggaggcctg aaatgtttcc aggcatgacc
     3301 ctggagcccg gcagtgcacc ccctaaagat ggcgcacccg gcagcccccc agtgtcccca
     3361 ggggcacact tccccttggg atgggcacag gctgccccac ccctccatga ttccaagggc
     3421 ccagaggggc ggggccagga tggcgtgtcc cctgcctgtg agtgacatcg gttcaggagg
     3481 agacagtcag gaagcctcct gctgagtggt ccacattctg ctgcccccag accccatcca
     3541 gccaggggtg gggatggggt tgggctctgc gtcccactga gtctcattcc tctgtccccg
     3601 agccgagctc tcctgggcca gggtctcgtc aggaggtgcc tgagagcaga atgaataatt
     3661 gaggttagga acccggcatg ccgagtgccc cagaaatgcc gctgtgtccc cgcgggcagt
     3721 gacgtgagtg gggaggagac tcaggcccac attgcccaca cctgcctctg aactgctgct
     3781 ggtcaccccc acccccgggt gcctgtgacc ggggtcctga ggctggggct tttgtgccag
     3841 gagtgggtgg gacacagaga cccccgtgcc aaatcctggg catccccagc cccctggccc
     3901 ctcccacatc ccccgtgtat tcaggacccc atctgctgag ctctgacctg cccccgctct
     3961 gccatcagcc cctgctgctc ctcggccaga gctcccagga cgcagggaga ccctgggaga
     4021 gtgaggtcat cccggggcca tggaagctgg caggagacac tggtctcaga ggagggatag
     4081 agacgcagat ttcagatgta agaagcccga tccacattgc ataagtggac ccagctgcca
     4141 gatgtgtggg cagctgcagg gagtggcccg gggtgctggg cccagctgtg gttgttcttt
     4201 tctgggtcag gagtgactgc ggagtggctg ggacgctcct gccgggggac cctcctgccg
     4261 ggggtggccg cttgcctggg ggaagacccc tttccctttc tttttttttt tgaggctcaa
     4321 aaaaaaaatc caaataaagc accatattcc caccacgcca aattaacctt gacaacaatg
     4381 ttggcgtatt tgcgtccagt gctgttttta ttaattaagg taaaatttac atatggtgag
     4441 atgcatgctc ttcagtggag acccagcccc tagaaggtcc ctccagccct tcctgtcggc
     4501 gtccctcccc atctgtggct ctgacttaag caccgtggat tgacctctcc ggctcacgac
     4561 cttcgaggag tcagaatcct gcagttggag cctttgatgt ctggcttctt catcctatga
     4621 cttagagctt catccgtgct gttgtgtgtg tccgtagctc cttgctgtct gttccttcgt
     4681 ttttaattgt gagcagtgtt cttctgtctg aataaactaa gacgcagttt gtccatcacc
     4741 tgttagtgga ctttgcttgc agctgtcggt gattaggaat ggaggtgccg gtgtgtgcat
     4801 ggcactctat ccgttatgca tgtttatttt ctgcatctgt taatgtttta acatctttca
     4861 gacccaggac tgctcctcct agggccagtt agttcccggg ggtggacagc ttgcctagaa
     4921 cccaccttgc cagggctgtg acccccgacc ccctatcaaa gtctcacact aagccaacgt
     4981 ttccccgccc tgtgccaggc accaggcagc gggagacact gctgcagctc gaagcctgcc
     5041 ggggcgccgg cccctctgcg gctgcttgcg ccatcctgcc ccctccttcc caggggaggc
     5101 cccagtgaag gccctggcca gggcttccca gccccttctg cctccggacc ggcctgggtg
     5161 cttcccgtgt ggcccggcct ggggcgacgt ggccctcctc tcaggaagcg tggtaatctc
     5221 tcaatggctg gcctccggag ttgtcactca ggctcccttg taagttaagg ccgggcccag
     5281 gacactctag ggcacgcagc tgctgtggga ctgctgggtt aggtgtcccc tggagcagag
     5341 gcggcttcgg atttctaaag tggctgagtc ctttcacctt gcaccagaaa tgctggatca
     5401 ggcgcagcac acacagcacc tggggatgca agcccggcca gccccatgga ccaagccccg
     5461 ccgaccgtgt ggcccgccga gcccaggtgc ggccgcccgg cttctgcagg caatgtctgc
     5521 caagccctgg aatgtgctcc cagtgtgtgc acagacttca atgaataaaa cgcaccgtca
     5581 cca
//
LOCUS       NM_000745               3623 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens cholinergic receptor nicotinic alpha 5 subunit
            (CHRNA5), transcript variant 1, mRNA.
ACCESSION   NM_000745
VERSION     NM_000745.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3623)
  AUTHORS   Yang K, McLaughlin I, Shaw JK, Quijano-Carde N, Dani JA and De Biasi
            M.
  TITLE     CHRNA5 gene variation affects the response of VTA dopaminergic
            neurons during chronic nicotine exposure and withdrawal
  JOURNAL   Neuropharmacology 235, 109547 (2023)
   PUBMED   37116611
  REMARK    GeneRIF: CHRNA5 gene variation affects the response of VTA
            dopaminergic neurons during chronic nicotine exposure and
            withdrawal.
REFERENCE   2  (bases 1 to 3623)
  AUTHORS   Valencia-Perez Rea D, Falfan-Valencia R, Fricke-Galindo I,
            Buendia-Roldan I, Chavez-Galan L, Nava-Quiroz KJ, Alanis-Ponce J and
            Perez-Rubio G.
  TITLE     The rs16969968 Tobacco Smoking-Related Single-Nucleotide Variant Is
            Associated with Clinical Markers in Patients with Severe COVID-19
  JOURNAL   Int J Mol Sci 24 (12), 9811 (2023)
   PUBMED   37372959
  REMARK    GeneRIF: The rs16969968 Tobacco Smoking-Related Single-Nucleotide
            Variant Is Associated with Clinical Markers in Patients with Severe
            COVID-19. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3623)
  AUTHORS   Wang J, Li X, Zhang P, Yang T, Liu N, Qin L, Ma G, Li X, Fan H,
            Huang S and Dang N.
  TITLE     CHRNA5 Is Overexpressed in Patients with Psoriasis and Promotes
            Psoriasis-Like Inflammation in Mouse Models
  JOURNAL   J Invest Dermatol 142 (11), 2978-2987 (2022)
   PUBMED   35513071
  REMARK    GeneRIF: CHRNA5 Is Overexpressed in Patients with Psoriasis and
            Promotes Psoriasis-Like Inflammation in Mouse Models.
REFERENCE   4  (bases 1 to 3623)
  AUTHORS   Saber Cherif L, Diabasana Z, Perotin JM, Ancel J, Petit LMG,
            Devilliers MA, Bonnomet A, Lalun N, Delepine G, Maskos U, Gosset P,
            Polette M, Muggeo A, Guillard T, Deslee G and Dormoy V.
  TITLE     The Nicotinic Receptor Polymorphism rs16969968 Is Associated with
            Airway Remodeling and Inflammatory Dysregulation in COPD Patients
  JOURNAL   Cells 11 (19), 2937 (2022)
   PUBMED   36230899
  REMARK    GeneRIF: The Nicotinic Receptor Polymorphism rs16969968 Is
            Associated with Airway Remodeling and Inflammatory Dysregulation in
            COPD Patients. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3623)
  AUTHORS   Chmielowiec K, Chmielowiec J, Stronska-Pluta A, Trybek G, Smiarowska
            M, Suchanecka A, Wozniak G, Jaron A and Grzywacz A.
  TITLE     Association of Polymorphism CHRNA5 and CHRNA3 Gene in People
            Addicted to Nicotine
  JOURNAL   Int J Environ Res Public Health 19 (17), 10478 (2022)
   PUBMED   36078193
  REMARK    GeneRIF: Association of Polymorphism CHRNA5 and CHRNA3 Gene in
            People Addicted to Nicotine. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3623)
  AUTHORS   Eggert M, Aichinger E, Pfaffl MW, Steinlein OK and Pfob M.
  TITLE     Nicotinic acetylcholine receptor subunits alpha4 and alpha5
            associated with smoking behaviour and lung cancer are regulated by
            upstream open reading frames
  JOURNAL   PLoS One 8 (7), e66157 (2013)
   PUBMED   23843950
  REMARK    GeneRIF: Nicotinic acetylcholine receptor subunits alpha4 and alpha5
            associated with smoking behavior and lung cancer are regulated by
            upstream open reading frames. Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3623)
  AUTHORS   Anand R and Lindstrom J.
  TITLE     Chromosomal localization of seven neuronal nicotinic acetylcholine
            receptor subunit genes in humans
  JOURNAL   Genomics 13 (4), 962-967 (1992)
   PUBMED   1505988
REFERENCE   8  (bases 1 to 3623)
  AUTHORS   Raimondi E, Rubboli F, Moralli D, Chini B, Fornasari D, Tarroni P,
            De Carli L and Clementi F.
  TITLE     Chromosomal localization and physical linkage of the genes encoding
            the human alpha 3, alpha 5, and beta 4 neuronal nicotinic receptor
            subunits
  JOURNAL   Genomics 12 (4), 849-850 (1992)
   PUBMED   1572664
REFERENCE   9  (bases 1 to 3623)
  AUTHORS   Chini B, Clementi F, Hukovic N and Sher E.
  TITLE     Neuronal-type alpha-bungarotoxin receptors and the alpha 5-nicotinic
            receptor subunit gene are expressed in neuronal and nonneuronal
            human cell lines
  JOURNAL   Proc Natl Acad Sci U S A 89 (5), 1572-1576 (1992)
   PUBMED   1542648
REFERENCE   10  (bases 1 to 3623)
  AUTHORS   Eng CM, Kozak CA, Beaudet AL and Zoghbi HY.
  TITLE     Mapping of multiple subunits of the neuronal nicotinic acetylcholine
            receptor to chromosome 15 in man and chromosome 9 in mouse
  JOURNAL   Genomics 9 (2), 278-282 (1991)
   PUBMED   2004777
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2089620.1,
            SRR14038195.996036.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000299565.9/ ENSP00000299565.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            regulatory uORF             :: PMID: 23843950
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC027228.16.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 8, 2021 this sequence version replaced NM_000745.3.
            Summary: The protein encoded by this gene is a nicotinic
            acetylcholine receptor subunit and a member of a superfamily of
            ligand-gated ion channels that mediate fast signal transmission at
            synapses. These receptors are thought to be heteropentamers
            composed of separate but similar subunits. Defects in this gene
            have been linked to susceptibility to lung cancer type 2
            (LNCR2).[provided by RefSeq, Jun 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3623
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.1"
     gene            1..3623
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="cholinergic receptor nicotinic alpha 5 subunit"
                     /db_xref="GeneID:1138"
                     /db_xref="HGNC:HGNC:1959"
                     /db_xref="MIM:118505"
     regulatory      3..32
                     /regulatory_class="uORF"
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:23843950]"
                     /note="this uORF is predicted to encode a 9 aa peptide
                     (PMID:23843950)"
     misc_feature    30..32
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="upstream in-frame stop codon"
     CDS             201..1607
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; Cholinergic receptor, neuronal nicotinic, alpha
                     polypeptide-5; acetylcholine receptor, nicotinic, alpha 5
                     (neuronal); neuronal nicotinic acetylcholine receptor,
                     alpha5 subunit; cholinergic receptor, nicotinic, alpha 5
                     (neuronal); cholinergic receptor, nicotinic alpha 5"
                     /codon_start=1
                     /product="neuronal acetylcholine receptor subunit alpha-5
                     isoform 1 precursor"
                     /protein_id="NP_000736.2"
                     /db_xref="CCDS:CCDS10304.1"
                     /db_xref="GeneID:1138"
                     /db_xref="HGNC:HGNC:1959"
                     /db_xref="MIM:118505"
                     /translation="MAARGSGPRALRLLLLVQLVAGRCGLAGAAGGAQRGLSEPSSIAK
                     HEDSLLKDLFQDYERWVRPVEHLNDKIKIKFGLAISQLVDVDEKNQLMTTNVWLKQEWI
                     DVKLRWNPDDYGGIKVIRVPSDSVWTPDIVLFDNADGRFEGTSTKTVIRYNGTVTWTPP
                     ANYKSSCTIDVTFFPFDLQNCSMKFGSWTYDGSQVDIILEDQDVDKRDFFDNGEWEIVS
                     ATGSKGNRTDSCCWYPYVTYSFVIKRLPLFYTLFLIIPCIGLSFLTVLVFYLPSNEGEK
                     ICLCTSVLVSLTVFLLVIEEIIPSSSKVIPLIGEYLVFTMIFVTLSIMVTVFAINIHHR
                     SSSTHNAMAPLVRKIFLHTLPKLLCMRSHVDRYFTQKEETESGSGPKSSRNTLEAALDS
                     IRYITRHIMKENDVREVVEDWKFIAQVLDRMFLWTFLFVSIVGSLGLFVPVIYKWANIL
                     IPVHIGNANK"
     sig_peptide     201..266
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     267..1604
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /product="Neuronal acetylcholine receptor subunit alpha-5.
                     /id=PRO_0000000356"
                     /note="propagated from UniProtKB/Swiss-Prot (P30532.2)"
     misc_feature    663..665
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30532.2); glycosylation site"
     misc_feature    747..749
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30532.2); glycosylation site"
     misc_feature    885..887
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30532.2); glycosylation site"
     misc_feature    963..1025
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P30532.2);
                     transmembrane region"
     misc_feature    1044..1106
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P30532.2);
                     transmembrane region"
     misc_feature    1149..1211
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P30532.2);
                     transmembrane region"
     misc_feature    1488..1553
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="propagated from UniProtKB/Swiss-Prot (P30532.2);
                     transmembrane region"
     regulatory      1900..1905
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="hexamer: AGTAAA"
     polyA_site      1931
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="major polyA site"
     regulatory      2034..2039
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="hexamer: ATTATA"
     polyA_site      2055
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
     regulatory      2454..2459
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="hexamer: AATAAA"
     regulatory      2458..2463
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="hexamer: AATGAA"
     polyA_site      2472
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
     polyA_site      2483
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
     regulatory      2643..2648
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="hexamer: AATAGA"
     polyA_site      2665
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
     regulatory      3606..3611
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
                     /note="hexamer: TATAAA"
     polyA_site      3623
                     /gene="CHRNA5"
                     /gene_synonym="LNCR2"
ORIGIN
        1 acatgcgtcc cgagcccgcc agaagctgct aggctgaggc tgctgtcccg gcgggagctg
       61 tggcgcggag cggcccctct gctgcgtctg ccctcgtttt gtctcacgac tcacactcag
      121 tgctccattc cccaagagtt cgcgttcccc gcgcggcggt cgagaggcgg ctgcccgcgg
      181 tcccgcgcgg gcgcggggcg atggcggcgc gggggtcagg gccccgcgcg ctccgcctgc
      241 tgctcttggt ccagctggtc gcggggcgct gcggtctagc gggcgcggcg ggcggcgcgc
      301 agagaggatt atctgaacct tcttctattg caaaacatga agatagtttg cttaaggatt
      361 tatttcaaga ctacgaaaga tgggttcgtc ctgtggaaca cctgaatgac aaaataaaaa
      421 taaaatttgg acttgcaata tctcaattgg tggatgtgga tgagaaaaat cagttaatga
      481 caacaaacgt ctggttgaaa caggaatgga tagatgtaaa attaagatgg aaccctgatg
      541 actatggtgg aataaaagtt atacgtgttc cttcagactc tgtctggaca ccagacatcg
      601 ttttgtttga taatgcagat ggacgttttg aagggaccag tacgaaaaca gtcatcaggt
      661 acaatggcac tgtcacctgg actccaccgg caaactacaa aagttcctgt accatagatg
      721 tcacgttttt cccatttgac cttcagaact gttccatgaa atttggttct tggacttatg
      781 atggatcaca ggttgatata attctagagg accaagatgt agacaagaga gatttttttg
      841 ataatggaga atgggagatt gtgagtgcaa cagggagcaa aggaaacaga accgacagct
      901 gttgctggta tccgtatgtc acttactcat ttgtaatcaa gcgcctgcct ctcttttata
      961 ccttgttcct tataataccc tgtattgggc tctcattttt aactgtactt gtcttctatc
     1021 ttccttcaaa tgaaggtgaa aagatttgtc tctgcacttc agtacttgtg tctttgactg
     1081 tcttccttct ggttattgaa gagatcatac catcatcttc aaaagtcata cctctaattg
     1141 gagagtatct ggtatttacc atgatttttg tgacactgtc aattatggta accgtcttcg
     1201 ctatcaacat tcatcatcgt tcttcctcaa cacataatgc catggcgcct ttggtccgca
     1261 agatatttct tcacacgctt cccaaactgc tttgcatgag aagtcatgta gacaggtact
     1321 tcactcagaa agaggaaact gagagtggta gtggaccaaa atcttctaga aacacattgg
     1381 aagctgcgct cgattctatt cgctacatta caagacacat catgaaggaa aatgatgtcc
     1441 gtgaggttgt tgaagattgg aaattcatag cccaggttct tgatcggatg tttctgtgga
     1501 cttttctttt cgtttcaatt gttggatctc ttgggctttt tgttcctgtt atttataaat
     1561 gggcaaatat attaatacca gttcatattg gaaatgcaaa taagtgaagc ctcccaaggg
     1621 actgaagtat acatttagtt aacacacata tatctgatgg cacctataaa attatgaaaa
     1681 tgtaagttat gtgttaaatt tagtgcaagc tttaacagac taagttgcta acctcaattt
     1741 atgttaacag atgatccatt tgaacagttg gctgtatgac tgaagtaata actgatgaga
     1801 tacatttgat cttgtaaaaa tagcaaaata ttatctgaac tggactagtg aaaaatctag
     1861 tatttgtatc ctggcaaata atactaattt ataatccaca gtaaagttca tcctttgact
     1921 gtgctggaga attccagttg tatttgaaga ctgattttaa aacttttctg catttggtaa
     1981 aggtatgtaa actttcctgt actcactgag taacagctaa tctttaatat aatattatac
     2041 tgctatattt aaaaagctga ctacttgata taattactta atgtgatgct tgatataata
     2101 attacttaat gtggccgggc acggtggctc acacctgtaa tcccagcact ttgggaggtc
     2161 gaggtgggcg tatcacctga ggttgggagt tcgagaccag cctgaccaac gtggagaaac
     2221 cccgtctcta ctaaaaatat gaaattagcc agggtggtgg tgcacacctg taatcccagc
     2281 tacctgggag gctgcggcag gagaatcgct tgaacccagg tggcggaggt tgcggtgagc
     2341 tgagatcacg ccattgcact ccagcctggg caacaagagc aaaactcagt ctcaaataat
     2401 aataataaca acaacttaat gtgctgctgc ttttccataa ccaacatttt aaaaataaat
     2461 gaaaaacagg aattgggaac tcctttaagg cttactttat tctttagatg cttaattatt
     2521 gtgttaacta tttctgtagc ttagcttcca ctgtaaagtc atacagtaga caactcctgt
     2581 ggacacgcag tagcatatcc ttaacattaa tttcagtcct cttgtccaca tttcccacaa
     2641 ttaatagaac catcttctat ataaattgtg gtagtatctc tttatccttg atcttagaat
     2701 agtcagtcca ctacaattac atgaacccca tttaaaaaac atatttaggg ccgggggcag
     2761 tggctcacat ctgtaatcca agcactttgg gaggctgagg caggtggatc accagaggtt
     2821 aggagttcga gactagcctg accaacatgg tgaagccccg tctctactaa gaatacaaaa
     2881 aattagtcgg gcatggtagc aggcgcctgt agtcccagct actcaagagg ctgaggcagg
     2941 agaatcgctt gaacctggga ggtggaggct gcagtgagcc gagactgcgc cattgcactc
     3001 cagcctggca acaagagcaa aactctgtct caaacatatt ttggtctaaa tcattctgtg
     3061 agaaaacaat cttctaatat gaaacacagt attctaattt ggtatatgca cactgttata
     3121 tacctgtaat atttcagttt tctctccttc attctaacaa ttacaataat agaatcttag
     3181 agttgcaagg gcctttagat gtaatcaatc ttagcctatt actagtacag cgtaaatgat
     3241 ttagtacagt ataatgtatc acagttaaaa cagttaaatt ccatctctaa atgtcaccac
     3301 ttcaggtgtg accaggtagc aaacactgac agaaaccctc gttcaattta gaactcttag
     3361 ctgttgagat cacaaacacc tcatttattt ataataagta acctatctaa gttcaagcca
     3421 atgctctttg gaaggcggag gagaccctat ctaatttgca tttaatcgta ggcaggtgtt
     3481 taatgccatt taatgagtga aagcctggtg tgatgaattt agattgcctg ccagctacct
     3541 accttagttc gtatacatcc ctgatccctc ttatactacc attactgtta cttatgattt
     3601 ttatatataa atttttatcg aca
//
LOCUS       NM_000746               6149 bp    mRNA    linear   PRI 23-APR-2023
DEFINITION  Homo sapiens cholinergic receptor nicotinic alpha 7 subunit
            (CHRNA7), transcript variant 1, mRNA.
ACCESSION   NM_000746
VERSION     NM_000746.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6149)
  AUTHORS   Kalashnyk O, Lykhmus O, Koval L, Uspenska K, Obolenskaya M,
            Chernyshov V, Komisarenko S and Skok M.
  TITLE     alpha7 Nicotinic acetylcholine receptors regulate translocation of
            HIF-1alpha to the cell nucleus and mitochondria upon hypoxia
  JOURNAL   Biochem Biophys Res Commun 657, 35-42 (2023)
   PUBMED   36972659
  REMARK    GeneRIF: alpha7 Nicotinic acetylcholine receptors regulate
            translocation of HIF-1alpha to the cell nucleus and mitochondria
            upon hypoxia.
REFERENCE   2  (bases 1 to 6149)
  AUTHORS   Marmouzi I, Myers S, Buck DJ, Davis RL and Arias HR.
  TITLE     alpha7 Nicotinic acetylcholine receptor potentiation downregulates
            chemotherapy-induced inflammatory overactivation by overlapping
            intracellular mechanisms
  JOURNAL   Int J Biochem Cell Biol 158, 106405 (2023)
   PUBMED   36966906
  REMARK    GeneRIF: alpha7 Nicotinic acetylcholine receptor potentiation
            downregulates chemotherapy-induced inflammatory overactivation by
            overlapping intracellular mechanisms.
REFERENCE   3  (bases 1 to 6149)
  AUTHORS   Liu H, Zhang X, Shi P, Yuan J, Jia Q, Pi C, Chen T, Xiong L, Chen J,
            Tang J, Yue R, Liu Z, Shen H, Zuo Y, Wei Y and Zhao L.
  TITLE     alpha7 Nicotinic acetylcholine receptor: a key receptor in the
            cholinergic anti-inflammatory pathway exerting an antidepressant
            effect
  JOURNAL   J Neuroinflammation 20 (1), 84 (2023)
   PUBMED   36973813
  REMARK    GeneRIF: alpha7 Nicotinic acetylcholine receptor: a key receptor in
            the cholinergic anti-inflammatory pathway exerting an antidepressant
            effect. Review article Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6149)
  AUTHORS   Yasin S, Gorucu Yilmaz S, Geyik S and Oguzkan Balci S.
  TITLE     The holistic approach to the CHRNA7 gene, hsa-miR-3158-5p, and
            15q13.3 hotspot CNVs in migraineurs
  JOURNAL   Mol Pain 19, 17448069231152104 (2023)
   PUBMED   36604774
  REMARK    GeneRIF: The holistic approach to the CHRNA7 gene, hsa-miR-3158-5p,
            and 15q13.3 hotspot CNVs in migraineurs.
REFERENCE   5  (bases 1 to 6149)
  AUTHORS   Nour MA, Kheradmand F, Rasmi Y and Baradaran B.
  TITLE     Alpha7 nicotinic acetylcholine receptor expression in
            Sorafenib-resistant Hepatocellular carcinoma cells
  JOURNAL   Med Oncol 39 (11), 165 (2022)
   PUBMED   35972579
  REMARK    GeneRIF: Alpha7 nicotinic acetylcholine receptor expression in
            Sorafenib-resistant Hepatocellular carcinoma cells. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 6149)
  AUTHORS   Chavez-Noriega LE, Crona JH, Washburn MS, Urrutia A, Elliott KJ and
            Johnson EC.
  TITLE     Pharmacological characterization of recombinant human neuronal
            nicotinic acetylcholine receptors h alpha 2 beta 2, h alpha 2 beta
            4, h alpha 3 beta 2, h alpha 3 beta 4, h alpha 4 beta 2, h alpha 4
            beta 4 and h alpha 7 expressed in Xenopus oocytes
  JOURNAL   J Pharmacol Exp Ther 280 (1), 346-356 (1997)
   PUBMED   8996215
REFERENCE   7  (bases 1 to 6149)
  AUTHORS   Elliott KJ, Ellis SB, Berckhan KJ, Urrutia A, Chavez-Noriega LE,
            Johnson EC, Velicelebi G and Harpold MM.
  TITLE     Comparative structure of human neuronal alpha 2-alpha 7 and beta
            2-beta 4 nicotinic acetylcholine receptor subunits and functional
            expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and
            beta 4 subunits
  JOURNAL   J Mol Neurosci 7 (3), 217-228 (1996)
   PUBMED   8906617
REFERENCE   8  (bases 1 to 6149)
  AUTHORS   Peng X, Katz M, Gerzanich V, Anand R and Lindstrom J.
  TITLE     Human alpha 7 acetylcholine receptor: cloning of the alpha 7 subunit
            from the SH-SY5Y cell line and determination of pharmacological
            properties of native receptors and functional alpha 7 homomers
            expressed in Xenopus oocytes
  JOURNAL   Mol Pharmacol 45 (3), 546-554 (1994)
   PUBMED   8145738
REFERENCE   9  (bases 1 to 6149)
  AUTHORS   Chini B, Raimond E, Elgoyhen AB, Moralli D, Balzaretti M and
            Heinemann S.
  TITLE     Molecular cloning and chromosomal localization of the human alpha
            7-nicotinic receptor subunit gene (CHRNA7)
  JOURNAL   Genomics 19 (2), 379-381 (1994)
   PUBMED   8188270
REFERENCE   10  (bases 1 to 6149)
  AUTHORS   van Bon,B.W.M., Mefford,H.C., de Vries,B.B.A. and Schaaf,C.P.
  TITLE     15q13.3 Recurrent Deletion
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   21290787
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.200548.1,
            SRR7410571.165085.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000306901.9/ ENSP00000303727.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292069.1, BC037571.1,
            AC068448.10 and BI789267.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000746.5.
            Summary: The nicotinic acetylcholine receptors (nAChRs) are members
            of a superfamily of ligand-gated ion channels that mediate fast
            signal transmission at synapses. The nAChRs are thought to be
            hetero-pentamers composed of homologous subunits. The proposed
            structure for each subunit is a conserved N-terminal extracellular
            domain followed by three conserved transmembrane domains, a
            variable cytoplasmic loop, a fourth conserved transmembrane domain,
            and a short C-terminal extracellular region. The protein encoded by
            this gene forms a homo-oligomeric channel, displays marked
            permeability to calcium ions and is a major component of brain
            nicotinic receptors that are blocked by, and highly sensitive to,
            alpha-bungarotoxin. Once this receptor binds acetylcholine, it
            undergoes an extensive change in conformation that affects all
            subunits and leads to opening of an ion-conducting channel across
            the plasma membrane. This gene is located in a region identified as
            a major susceptibility locus for juvenile myoclonic epilepsy and a
            chromosomal location involved in the genetic transmission of
            schizophrenia. An evolutionarily recent partial duplication event
            in this region results in a hybrid containing sequence from this
            gene and a novel FAM7A gene. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Feb 2012].
            Transcript Variant: This variant (1) lacks an in-frame portion of
            the 5' coding region, compared to variant 2. The resulting isoform
            (1) has a shorter N-terminus, compared to isoform 2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6149
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.3"
     gene            1..6149
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /note="cholinergic receptor nicotinic alpha 7 subunit"
                     /db_xref="GeneID:1139"
                     /db_xref="HGNC:HGNC:1960"
                     /db_xref="MIM:118511"
     CDS             81..1589
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; cholinergic receptor, nicotinic, alpha polypeptide 7; a7
                     nicotinic acetylcholine receptor; alpha 7 neuronal
                     nicotinic acetylcholine receptor; alpha-7 nicotinic
                     cholinergic receptor subunit; neuronal acetylcholine
                     receptor protein, alpha-7 chain; neuronal acetylcholine
                     receptor subunit alpha-7; cholinergic receptor, nicotinic,
                     alpha 7 (neuronal); cholinergic receptor, nicotinic alpha
                     7"
                     /codon_start=1
                     /product="neuronal acetylcholine receptor subunit alpha-7
                     isoform 1 precursor"
                     /protein_id="NP_000737.1"
                     /db_xref="CCDS:CCDS10027.1"
                     /db_xref="GeneID:1139"
                     /db_xref="HGNC:HGNC:1960"
                     /db_xref="MIM:118511"
                     /translation="MRCSPGGVWLALAASLLHVSLQGEFQRKLYKELVKNYNPLERPVA
                     NDSQPLTVYFSLSLLQIMDVDEKNQVLTTNIWLQMSWTDHYLQWNVSEYPGVKTVRFPD
                     GQIWKPDILLYNSADERFDATFHTNVLVNSSGHCQYLPPGIFKSSCYIDVRWFPFDVQH
                     CKLKFGSWSYGGWSLDLQMQEADISGYIPNGEWDLVGIPGKRSERFYECCKEPYPDVTF
                     TVTMRRRTLYYGLNLLIPCVLISALALLVFLLPADSGEKISLGITVLLSLTVFMLLVAE
                     IMPATSDSVPLIAQYFASTMIIVGLSVVVTVIVLQYHHHDPDGGKMPKWTRVILLNWCA
                     WFLRMKRPGEDKVRPACQHKQRRCSLASVEMSAVAPPPASNGNLLYIGFRGLDGVHCVP
                     TPDSGVVCGRMACSPTHDEHLLHGGQPPEGDPDLAKILEEVRYIANRFRCQDESEAVCS
                     EWKFAACVVDRLCLMAFSVFTIICTIGILMSAPNFVEAVSKDFA"
     sig_peptide     81..146
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     147..1586
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /product="Neuronal acetylcholine receptor subunit alpha-7.
                     /id=PRO_0000000366"
                     /note="propagated from UniProtKB/Swiss-Prot (P36544.5)"
     misc_feature    216..218
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P36544.5); glycosylation site"
     misc_feature    348..350
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P36544.5); glycosylation site"
     misc_feature    477..479
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P36544.5); glycosylation site"
     misc_feature    771..845
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /note="propagated from UniProtKB/Swiss-Prot (P36544.5);
                     transmembrane region"
     misc_feature    858..881
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /note="propagated from UniProtKB/Swiss-Prot (P36544.5);
                     Region: Essential for TMEM35A/NACHO-mediated proper subunit
                     assembly and trafficking to cell membrane.
                     /evidence=ECO:0000250|UniProtKB:P49582"
     misc_feature    864..920
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /note="propagated from UniProtKB/Swiss-Prot (P36544.5);
                     transmembrane region"
     misc_feature    966..1031
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /note="propagated from UniProtKB/Swiss-Prot (P36544.5);
                     transmembrane region"
     misc_feature    1488..1550
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /note="propagated from UniProtKB/Swiss-Prot (P36544.5);
                     transmembrane region"
     regulatory      3288..3293
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /note="hexamer: AATAAA"
     polyA_site      3314
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /note="major polyA site"
     regulatory      5625..5630
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
                     /note="hexamer: AATAAA"
     polyA_site      5655
                     /gene="CHRNA7"
                     /gene_synonym="CHRNA7-2; NACHRA7"
ORIGIN
        1 gcctctgtgg ccgcaggcgc aggcccgggc gacagccgag acgtggagcg cgccggctcg
       61 ctgcagctcc gggactcaac atgcgctgct cgccgggagg cgtctggctg gcgctggccg
      121 cgtcgctcct gcacgtgtcc ctgcaaggcg agttccagag gaagctttac aaggagctgg
      181 tcaagaacta caatcccttg gagaggcccg tggccaatga ctcgcaacca ctcaccgtct
      241 acttctccct gagcctcctg cagatcatgg acgtggatga gaagaaccaa gttttaacca
      301 ccaacatttg gctgcaaatg tcttggacag atcactattt acagtggaat gtgtcagaat
      361 atccaggggt gaagactgtt cgtttcccag atggccagat ttggaaacca gacattcttc
      421 tctataacag tgctgatgag cgctttgacg ccacattcca cactaacgtg ttggtgaatt
      481 cttctgggca ttgccagtac ctgcctccag gcatattcaa gagttcctgc tacatcgatg
      541 tacgctggtt tccctttgat gtgcagcact gcaaactgaa gtttgggtcc tggtcttacg
      601 gaggctggtc cttggatctg cagatgcagg aggcagatat cagtggctat atccccaatg
      661 gagaatggga cctagtggga atccccggca agaggagtga aaggttctat gagtgctgca
      721 aagagcccta ccccgatgtc accttcacag tgaccatgcg ccgcaggacg ctctactatg
      781 gcctcaacct gctgatcccc tgtgtgctca tctccgccct cgccctgctg gtgttcctgc
      841 ttcctgcaga ttccggggag aagatttccc tggggataac agtcttactc tctcttaccg
      901 tcttcatgct gctcgtggct gagatcatgc ccgcaacatc cgattcggta ccattgatag
      961 cccagtactt cgccagcacc atgatcatcg tgggcctctc ggtggtggtg acagtgatcg
     1021 tgctgcagta ccaccaccac gaccccgacg ggggcaagat gcccaagtgg accagagtca
     1081 tccttctgaa ctggtgcgcg tggttcctgc gaatgaagag gcccggggag gacaaggtgc
     1141 gcccggcctg ccagcacaag cagcggcgct gcagcctggc cagtgtggag atgagcgccg
     1201 tggcgccgcc gcccgccagc aacgggaacc tgctgtacat cggcttccgc ggcctggacg
     1261 gcgtgcactg tgtcccgacc cccgactctg gggtagtgtg tggccgcatg gcctgctccc
     1321 ccacgcacga tgagcacctc ctgcacggcg ggcaaccccc cgagggggac ccggacttgg
     1381 ccaagatcct ggaggaggtc cgctacattg ccaaccgctt ccgctgccag gacgaaagcg
     1441 aggcggtctg cagcgagtgg aagttcgccg cctgtgtggt ggaccgcctg tgcctcatgg
     1501 ccttctcggt cttcaccatc atctgcacca tcggcatcct gatgtcggct cccaacttcg
     1561 tggaggccgt gtccaaagac tttgcgtaac cacgcctggt tctgtacatg tggaaaactc
     1621 acagatgggc aaggcctttg gcttggcgag atttgggggt gctaatccag gacagcatta
     1681 cacgccacaa ctccagtgtt cccttctggc tgtcagtcgt gttgcttacg gtttctttgt
     1741 tactttaggt agtagaatct cagcactttg tttcatattc tcagatgggc tgatagatat
     1801 ccttggcaca tccgtaccat cggtcagcag ggccactgag tagtcatttt gcccattagc
     1861 ccactgcctg gaaagccctt cggagagctc cccatggctc ctcaccaccg agacagttgg
     1921 ttttgcatgt ctgcatgaag gtctacctga aaattcaaca tttgcttttt gcttgtgtac
     1981 aaacccagat tgaagctaaa ataaaccaga ctcactaaat cctttccaat aattgactgg
     2041 tggaaggaaa acaaaaaaca aaaactaaaa acctcttagc ttttctgcaa ttcaactttt
     2101 tatttttatt tttatttcta tcaaagacgg tagagagaaa cagcttgatg ctgtttctac
     2161 attaaaaaaa aaaaaaaaag acagactgtt ggtcttacta aggatgtttt taccagcctg
     2221 cctgacttct gcaaacctac cctgtcaagg agatcaaagg gacgcaggtt tctgtttatt
     2281 ctgaacaagg gccaggcccc gcggagtgtc tttggtggat cccagataac tcctaggtgc
     2341 tgctctcaga cactgaggag ttgagcaaat ctgttctatt ctgcagaacc cacaggacaa
     2401 ataagagttc tactagaatt aacagcccaa aagaatagct acagctaagt gaagccactt
     2461 acgtgggctt taaaaaaata atgtgttagc tgattcacat gcactggagt taattagtct
     2521 tagaaatgtg tgcatccata caaatgcaca acataaagtg aacatattcc taggcccttt
     2581 ctgcctgtgt cagggccagg aagtagaggc tgggaactct tctggtcccc agtatggcag
     2641 gcgccaggga ggggatggtg tggcccatcc cttctctgga tacctggcca gtggcaggca
     2701 gcagggagga gctggccgac cctcagtgac tgacaagcca gcaattctga gttctggcct
     2761 ttgggagtct gcctgctcca agccagtcca ccccagctgc agccccaaaa gctggctcaa
     2821 agtccttggg tggattcact ggagatgggc aacttaaaac aagagaaact ttaattttta
     2881 aacctaagtg atgatacagc tcttccctta gattatcgcc caggctggag tgcagtggca
     2941 tgatctcagc tcactgcaag ctccacctcc tgggttcatg ccattctcct gcctcagcct
     3001 ccccccgagt aactgggaat acaggcgccc gccaccatgc ctggctaatt ttttgtattt
     3061 ttagtagaga tagggtttca tcatgttagc caggatggtc tcattcttat tctttaatga
     3121 gatcagaggg taattcacca agaaagacct ctcctgttcc attgtgtcat ccaacaactg
     3181 ctcagagctc aaaattatag aaggcttctg agcccctaga gatttttaat ttgcttctaa
     3241 tccctgaggt gggaacatca tgagggaaga tttgattttc agagttaaat aaattgtatg
     3301 tgcttttcca gccatctggc tcactcattt ctgggtaatg cacatgactt tgtttgcact
     3361 ggaggaagat ggaagcttgc gtgtgtgcgg tgtgtgtgtg tgtgtaagtg tgaggtacct
     3421 tgtgtgtgac aagagacctc acttacgaga aagttggtgg atcaggacat tccagcctca
     3481 ggcggcttgg agcaggatca ttcctcagca ggcattcctt ccacatgcta tggatgaacc
     3541 atgcacaaga ttttcggttt tttttttttt ttctgttaca gtgtctttag aaacaagtag
     3601 aagtgttttg atatataaaa ggaatgcttc atttcttatc attatcccaa aattgatccc
     3661 tcccacattt ttgctttaaa aagaaacctt tttggttttg tattttatac aggaacacaa
     3721 aatgcaaaca agttgtgcat attttggact ctcaaataac ttctctgtcc tttaataaag
     3781 taataataag gaatagatgt gcacatagtt agaaaagtat gagtggttaa aaacaacagt
     3841 ctcccatact gcctgttttc tctctcagag gggaccacta atgagcttct aagggcattt
     3901 ctagaaagga agaaaagaag ataagaggcc aaagaaggag ggacgggggt tatggagaga
     3961 gaccttccct ttccagcact aacgctctgt gaagggcgct gcaccttgca ttcttcatgt
     4021 ggtgttttgt cttagaggtc gtcccataat aacatataaa gatctacctc attcctccta
     4081 gtagctgctt agcattccat tatctcagcg gactatcatt tatttgaata gccttttatt
     4141 ggtgaacata tggatacttc cagtttttat ttttatatac aaatctataa ttggcatact
     4201 tgtacataca tcttgacata gttttgtgac taaaacggta taaattccaa cttagaaatg
     4261 gaattgctgg gtttaaggct acatgtattt aaaattttga tagctattgc cagattatct
     4321 tctagaaact gatcgaagga tgtaactcca tcaagagtac aataaaaggc ccaatttctc
     4381 agctttctat aatagcactg ggtattttca aacttaatgt ttttcccaat ataattggtg
     4441 aaacatgata tttacgaata ttattctgat tttggtttat tttgtgtata aaatgggaca
     4501 tcttttaaaa tttttttgta gttttaattt tgatacattt atatatttta cccagttcct
     4561 aattgggtta tttggctttt tcttaatttg ctcatgcact ttgggacatt tttgtcttat
     4621 gtctttaaaa tatttttatc atttgtcttt cgatgttatt tattgatttc cttatttatt
     4681 ggcatagagt ttaaattttt atgttgtcaa tttgtgagta tttttctttg tcgatcgtgg
     4741 gatttgtttc cagtttttaa aagccttcct cattctgaga ttataaatag acttactcgc
     4801 attttcttct gaaactttat ggttttattg gtttaccttc acatcttcag actccctgga
     4861 attcatttgt tgcaggacat gagggaaaaa tccatacttt ttcctcgaaa tggtggtcag
     4921 cagtatcaat aaatatgtaa taatgcattt ctaaaataca gtcatagtgt tttccccagt
     4981 tgttcaaaat gcagccttat ttgtaaacta aatttcttta agtgtttggt tctgtttctg
     5041 ttctatttat ctctatgaat gcctttcatt tctaaagcat tattcatact aatatcagta
     5101 ttttcaagtc aacactccca tcaactctga atctctctct catatgaatc ttttttcaat
     5161 tagagtcaca atgaatttac agattgagtc ttcctattca aaagcatgaa atcttgtgtt
     5221 taagtctaat tttatgtaac ttagtagtgt tttatgattt tgttcactaa ggtgctttga
     5281 atttatagtt tatttctaga tgttttatca tttggctatc attttcaata gaatgattta
     5341 ttccacttta ttttctattt tatcccattg tataagaaag tagttggttt ttatgtatga
     5401 atgttataat caaccacaaa ttgtgattcc tacttgtttc taaggtatac ttttgacttc
     5461 tcctttccaa tgtgtctctt atttctttct tgtatctagt tgatttgaga tcagtgttga
     5521 gtcacagtga ttcaggtggc atgcttatct tgttcgtgac atcagtggga cgttttaatg
     5581 tctcagcgtt taacttgtat gaagacatgt attttccttg ccataataaa aaagtatctg
     5641 tgtgttctca aactattaag actctctggg gaaaatgtag atgttagatt tttgtcaaag
     5701 ccttctcagt gtccagaggg attatcagaa ggtcttttcc tttgctctag tagtatgttt
     5761 aattatatta atagaatact taagaccaaa tcattagtgt attcctgaga tgttctttac
     5821 ttattagtat catgactttg gttatcaata tttataatta agattcatca ttctacatct
     5881 tgcttttatg tgttttttgt ccagatttaa ctttatgctg acttaaagga agaaatatta
     5941 taaaacaaaa acctctatat tctacaatca tctattggtt ttggattatt ttctgcttaa
     6001 gtgtagaaga actagctggg gctgtctggg cctgccgtgg tatatttctg gattttgctc
     6061 atcaggcaag ttaggtcctc gagcccttct agagtccatt ttaatgacac ttttaaaaat
     6121 aaaattaatt ccatccactt ttcaacata
//
LOCUS       NM_000747               2560 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens cholinergic receptor nicotinic beta 1 subunit (CHRNB1),
            mRNA.
ACCESSION   NM_000747
VERSION     NM_000747.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2560)
  AUTHORS   Chia R, Saez-Atienzar S, Drachman DB and Traynor BJ.
  TITLE     Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the
            pathobiology of myasthenia gravis
  JOURNAL   Proc Natl Acad Sci U S A 119 (36), e2209096119 (2022)
   PUBMED   35969799
  REMARK    GeneRIF: Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in
            the pathobiology of myasthenia gravis.
REFERENCE   2  (bases 1 to 2560)
  AUTHORS   Freed AS, Schwarz AC, Brei BK, Clowes Candadai SV, Thies J, Mah JK,
            Chabra S, Wang L, Innes AM and Bennett JT.
  TITLE     CHRNB1-associated congenital myasthenia syndrome: Expanding the
            clinical spectrum
  JOURNAL   Am J Med Genet A 185 (3), 827-835 (2021)
   PUBMED   33296147
  REMARK    GeneRIF: CHRNB1-associated congenital myasthenia syndrome: Expanding
            the clinical spectrum.
REFERENCE   3  (bases 1 to 2560)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2560)
  AUTHORS   Aishah A, Hinton T and Machaalani R.
  TITLE     Cellular protein and mRNA expression of beta1 nicotinic
            acetylcholine receptor (nAChR) subunit in brain, skeletal muscle and
            placenta
  JOURNAL   Int J Dev Neurosci 58, 9-16 (2017)
   PUBMED   28153524
  REMARK    GeneRIF: This study reports on the presence of the CHRNB1 at the
            cellular level in human skeletal muscle and placenta and that mRNA
            expression mirrors that of protein within cell types.
REFERENCE   5  (bases 1 to 2560)
  AUTHORS   Shen XM, Okuno T, Milone M, Otsuka K, Takahashi K, Komaki H, Giles
            E, Ohno K and Engel AG.
  TITLE     Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring
            in the Channel Pore of Muscle AChR is Optimized for Stabilizing
            Channel Gating
  JOURNAL   Hum Mutat 37 (10), 1051-1059 (2016)
   PUBMED   27375219
  REMARK    GeneRIF: Study traced the cause of congenital myasthenia syndrome in
            unrelated patients with dominant missense mutations in the M2 domain
            of AChR. A valine residue is replaced by a smaller alanine either in
            the epsilon subunit or an equivalent position in the beta one. Also,
            each valine in the valine ring was found to contribute to channel
            kinetics equally, and the valine ring has bee optimized during
            evolution to govern channe...
REFERENCE   6  (bases 1 to 2560)
  AUTHORS   Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, Sine SM and
            Engel AG.
  TITLE     Congenital myasthenic syndrome caused by prolonged acetylcholine
            receptor channel openings due to a mutation in the M2 domain of the
            epsilon subunit
  JOURNAL   Proc Natl Acad Sci U S A 92 (3), 758-762 (1995)
   PUBMED   7531341
REFERENCE   7  (bases 1 to 2560)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301347
REFERENCE   8  (bases 1 to 2560)
  AUTHORS   Beeson D, Jeremiah S, West LF, Povey S and Newsom-Davis J.
  TITLE     Assignment of the human nicotinic acetylcholine receptor genes: the
            alpha and delta subunit genes to chromosome 2 and the beta subunit
            gene to chromosome 17
  JOURNAL   Ann Hum Genet 54 (3), 199-208 (1990)
   PUBMED   2221824
REFERENCE   9  (bases 1 to 2560)
  AUTHORS   Beeson D, Brydson M and Newsom-Davis J.
  TITLE     Nucleotide sequence of human muscle acetylcholine receptor
            beta-subunit
  JOURNAL   Nucleic Acids Res 17 (11), 4391 (1989)
   PUBMED   2740233
REFERENCE   10  (bases 1 to 2560)
  AUTHORS   Kraus,H.
  TITLE     Research methods in the biomechanics of sports
  JOURNAL   Orthop Clin North Am 8 (3), 549-562 (1977)
   PUBMED   887246
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC023553.2, AK308106.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142853 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000306071.7/ ENSP00000304290.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC113189.11, BC023553.2 and
            BC011371.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000747.2.
            Summary: The muscle acetylcholine receptor is composed of five
            subunits: two alpha subunits and one beta, one gamma, and one delta
            subunit. This gene encodes the beta subunit of the acetylcholine
            receptor. The acetylcholine receptor changes conformation upon
            acetylcholine binding leading to the opening of an ion-conducting
            channel across the plasma membrane. Mutations in this gene are
            associated with slow-channel congenital myasthenic syndrome.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2560
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..2560
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="cholinergic receptor nicotinic beta 1 subunit"
                     /db_xref="GeneID:1140"
                     /db_xref="HGNC:HGNC:1961"
                     /db_xref="MIM:100710"
     misc_feature    50..52
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="upstream in-frame stop codon"
     CDS             68..1573
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="cholinergic receptor, nicotinic, beta polypeptide 1
                     (muscle); cholinergic receptor, nicotinic beta 1;
                     acetylcholine receptor subunit beta; acetylcholine
                     receptor, nicotinic, beta 1 (muscle); cholinergic receptor,
                     nicotinic, beta 1 (muscle)"
                     /codon_start=1
                     /product="acetylcholine receptor subunit beta precursor"
                     /protein_id="NP_000738.2"
                     /db_xref="CCDS:CCDS11106.1"
                     /db_xref="GeneID:1140"
                     /db_xref="HGNC:HGNC:1961"
                     /db_xref="MIM:100710"
                     /translation="MTPGALLMLLGALGAPLAPGVRGSEAEGRLREKLFSGYDSSVRPA
                     REVGDRVRVSVGLILAQLISLNEKDEEMSTKVYLDLEWTDYRLSWDPAEHDGIDSLRIT
                     AESVWLPDVVLLNNNDGNFDVALDISVVVSSDGSVRWQPPGIYRSSCSIQVTYFPFDWQ
                     NCTMVFSSYSYDSSEVSLQTGLGPDGQGHQEIHIHEGTFIENGQWEIIHKPSRLIQPPG
                     DPRGGREGQRQEVIFYLIIRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAGEKMGLSI
                     FALLTLTVFLLLLADKVPETSLSVPIIIKYLMFTMVLVTFSVILSVVVLNLHHRSPHTH
                     QMPLWVRQIFIHKLPLYLRLKRPKPERDLMPEPPHCSSPGSGWGRGTDEYFIRKPPSDF
                     LFPKPNRFQPELSAPDLRRFIDGPNRAVALLPELREVVSSISYIARQLQEQEDHDALKE
                     DWQFVAMVVDRLFLWTFIIFTSVGTLVIFLDATYHLPPPDPFP"
     sig_peptide     68..136
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     137..1570
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /product="acetylcholine receptor subunit beta"
     misc_feature    557..559
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11230.3); glycosylation site"
     misc_feature    800..874
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="propagated from UniProtKB/Swiss-Prot (P11230.3);
                     transmembrane region"
     misc_feature    896..952
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="propagated from UniProtKB/Swiss-Prot (P11230.3);
                     transmembrane region"
     misc_feature    998..1063
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="propagated from UniProtKB/Swiss-Prot (P11230.3);
                     transmembrane region"
     misc_feature    1235..1237
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="Phosphotyrosine, by Tyr-kinases.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P11230.3); phosphorylation site"
     misc_feature    1475..1531
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="propagated from UniProtKB/Swiss-Prot (P11230.3);
                     transmembrane region"
     regulatory      2439..2444
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="hexamer: AATAAA"
     polyA_site      2463
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="major polyA site"
     regulatory      2538..2543
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
                     /note="hexamer: ATTAAA"
     polyA_site      2560
                     /gene="CHRNB1"
                     /gene_synonym="ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS"
ORIGIN
        1 gtcacttccc ctgtgctggc ggtcccagcg gctctctgag cgaagtcact gagcgagccg
       61 ccaggctatg accccagggg ctctgctgat gctgctgggg gcgctggggg cgccgctcgc
      121 cccaggcgtc cgcggctcgg aggcggaggg tcgactccgg gagaaacttt tctctggcta
      181 tgatagctcc gtgcggccag cgcgggaggt gggagaccgt gtcagggtca gcgttggtct
      241 catcctggcg caactcatca gcctgaacga gaaggatgaa gagatgagca caaaggtgta
      301 cttagacctg gagtggactg actacaggct gagctgggac cctgcggagc acgacggcat
      361 cgattcgctc cgcatcacgg cggaatccgt gtggctccct gacgtggtgc tactgaacaa
      421 caatgatggg aattttgacg tggctctgga cattagcgtc gtggtgtcct ccgacggctc
      481 cgtgcgttgg caacccccgg gcatctatcg cagcagctgc agcatccagg tcacctactt
      541 ccccttcgac tggcagaatt gcactatggt gttcagctcc tacagctacg acagctcgga
      601 ggtcagcctg cagacaggcc tgggtcctga cgggcaaggg catcaggaaa tccacattca
      661 tgaagggact ttcattgaga atggccagtg ggagattatc cacaagccct ctcggctaat
      721 ccagcctcca ggcgatccta ggggagggag ggaaggacag cgccaggaag tcatcttcta
      781 cctcatcatc cgccgcaagc ctctcttcta cctggtcaac gtcattgccc catgcatcct
      841 catcactctt ctggccatct tcgtcttcta cctgccacca gatgcaggag agaagatggg
      901 gctctcaatc tttgccctgc tgacccttac tgtgttcctg ctgctgctgg ctgacaaagt
      961 acctgagacc tcactatcag tacccattat tatcaagtac ctcatgttta ccatggtcct
     1021 cgtcaccttc tcagtcatcc ttagtgtcgt ggttctcaac ctgcaccacc gctcacccca
     1081 cacccaccaa atgccccttt gggtccgtca gatcttcatt cacaaacttc cgctgtacct
     1141 gcgtctaaaa aggcccaaac ccgagagaga cctgatgccg gagccccctc actgttcttc
     1201 tccaggaagt ggctggggtc ggggaacaga tgaatatttc atccggaagc cgccaagtga
     1261 ttttctcttc cccaaaccca ataggttcca gcctgaactg tctgcccctg atctgcggcg
     1321 atttatcgat ggtccaaacc gggctgtggc cctgcttccg gagctacggg aggtcgtctc
     1381 ctctatcagc tacatcgctc gacagctgca ggaacaggag gaccacgatg cgctgaagga
     1441 ggactggcag tttgtggcca tggtagtgga ccgcctcttc ctgtggactt tcatcatctt
     1501 caccagcgtt gggaccctag tcatcttcct ggacgccacg taccacttgc cccctccaga
     1561 cccctttcct tgaagactgg agggttgaga cccaggcccc ctgccagttg aagtgagagt
     1621 ttggtgatac tgtcaagccc tatccttctc tgcctcttaa ctccttcacg aggaatctgg
     1681 gcctcttatt tcgtttctgg ggactgcatt ggactgaggg ctgggtaggc aggtgtcttg
     1741 gacccacctg aaatgcagta tcatctgatt tactctttgg gatcttgaag aagctctttt
     1801 gggtatcaac acctaggtcg ccagtgaaat agaacacaga acaggaacta gattataagc
     1861 cttatgaggt caagaaatgt gacttggccg ggcgcggtgg ctcacgcctg taatcccagc
     1921 actttgggag gccaaggcgg gcggatcacc tgaggtcggg agtttgagac cagcccgacc
     1981 aacatggaga aaccctgtct ctactaaaaa tacaaaatta gccaggtgtg gtggtacatg
     2041 cctgtaatcc cagctactag ggaggctgag gcaggagaat cactcgaacc cgggaggcag
     2101 aggttgcagt gagtcaagat cacgccattg cactccagcc tgggcaacaa gagcgaaact
     2161 ccatctcaaa aaaaaaaaag tgtcttgttc actgcagcat gcccagtgcc acgcacaggt
     2221 gctgacctat agtaagtgct taacatttgt tgaatagggg aaagaaattt ccggaagtaa
     2281 atacagcaat taataatgtt tataagctgg gcatggtcgc tcaggccagt aatcccagtg
     2341 acttaggagg ctgaggtggg aggattactt gaaacccaca gtttgagacc agcctgggca
     2401 acatagtgag accctgtctc taaaaaaata aaaatagaaa taaagtagtg cttattgttt
     2461 gcatgttggg tcttgtggtc gttttctttt tacctttctg taatttatta tgttttgtaa
     2521 tgtgtactat ctctgggatt aaaaaaagtt atttctacaa
//
LOCUS       NM_000748               5857 bp    mRNA    linear   PRI 15-MAY-2023
DEFINITION  Homo sapiens cholinergic receptor nicotinic beta 2 subunit (CHRNB2),
            mRNA.
ACCESSION   NM_000748
VERSION     NM_000748.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5857)
  AUTHORS   Weltzin MM, George AA, Lukas RJ and Whiteaker P.
  TITLE     Sleep-related hypermotor epilepsy associated mutations uncover
            important kinetic roles of alpha4beta2- nicotinic acetylcholine
            receptor intracellular structures
  JOURNAL   PLoS One 16 (3), e0247825 (2021)
   PUBMED   33657187
  REMARK    GeneRIF: Sleep-related hypermotor epilepsy associated mutations
            uncover important kinetic roles of alpha4beta2- nicotinic
            acetylcholine receptor intracellular structures. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 5857)
  AUTHORS   Cadieux-Dion M, Meneghini S, Villa C, Toffa DH, Wickstrom R,
            Bouthillier A, Sandvik U, Gustavsson B, Mohamed I, Cossette P, Combi
            R, Becchetti A and Nguyen DK.
  TITLE     Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular
            Epilepsy
  JOURNAL   Can J Neurol Sci 47 (6), 800-809 (2020)
   PUBMED   32536355
  REMARK    GeneRIF: Variants in CHRNB2 and CHRNA4 Identified in Patients with
            Insular Epilepsy.
REFERENCE   3  (bases 1 to 5857)
  AUTHORS   Luijerink LLM, Vivekanandarajah A, Waters KA and Machaalani R.
  TITLE     The alpha7 and beta2 nicotinic acetylcholine receptor subunits
            regulate apoptosis in the infant hippocampus, and in sudden infant
            death syndrome (SIDS)
  JOURNAL   Apoptosis 25 (7-8), 574-589 (2020)
   PUBMED   32577853
  REMARK    GeneRIF: The alpha7 and beta2 nicotinic acetylcholine receptor
            subunits regulate apoptosis in the infant hippocampus, and in sudden
            infant death syndrome (SIDS).
REFERENCE   4  (bases 1 to 5857)
  AUTHORS   Oliveira ASF, Shoemark DK, Campello HR, Wonnacott S, Gallagher T,
            Sessions RB and Mulholland AJ.
  TITLE     Identification of the Initial Steps in Signal Transduction in the
            alpha4beta2 Nicotinic Receptor: Insights from Equilibrium and
            Nonequilibrium Simulations
  JOURNAL   Structure 27 (7), 1171-1183 (2019)
   PUBMED   31130483
  REMARK    GeneRIF: Identification of the initial steps in signal transduction
            in the alpha4beta2 nicotinic receptor has been reported.
REFERENCE   5  (bases 1 to 5857)
  AUTHORS   Walsh RM Jr, Roh SH, Gharpure A, Morales-Perez CL, Teng J and Hibbs
            RE.
  TITLE     Structural principles of distinct assemblies of the human
            alpha4beta2 nicotinic receptor
  JOURNAL   Nature 557 (7704), 261-265 (2018)
   PUBMED   29720657
  REMARK    GeneRIF: cryoelectron microscopy and the structural principles of
            distinct assemblies of the human alpha4beta2 nicotinic receptor
REFERENCE   6  (bases 1 to 5857)
  AUTHORS   Wang F, Gerzanich V, Wells GB, Anand R, Peng X, Keyser K and
            Lindstrom J.
  TITLE     Assembly of human neuronal nicotinic receptor alpha5 subunits with
            alpha3, beta2, and beta4 subunits
  JOURNAL   J Biol Chem 271 (30), 17656-17665 (1996)
   PUBMED   8663494
REFERENCE   7  (bases 1 to 5857)
  AUTHORS   Elliott KJ, Ellis SB, Berckhan KJ, Urrutia A, Chavez-Noriega LE,
            Johnson EC, Velicelebi G and Harpold MM.
  TITLE     Comparative structure of human neuronal alpha 2-alpha 7 and beta
            2-beta 4 nicotinic acetylcholine receptor subunits and functional
            expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and
            beta 4 subunits
  JOURNAL   J Mol Neurosci 7 (3), 217-228 (1996)
   PUBMED   8906617
REFERENCE   8  (bases 1 to 5857)
  AUTHORS   Kurahashi,H. and Hirose,S.
  TITLE     Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301348
REFERENCE   9  (bases 1 to 5857)
  AUTHORS   Anand R and Lindstrom J.
  TITLE     Chromosomal localization of seven neuronal nicotinic acetylcholine
            receptor subunit genes in humans
  JOURNAL   Genomics 13 (4), 962-967 (1992)
   PUBMED   1505988
REFERENCE   10  (bases 1 to 5857)
  AUTHORS   Anand R and Lindstrom J.
  TITLE     Nucleotide sequence of the human nicotinic acetylcholine receptor
            beta 2 subunit gene
  JOURNAL   Nucleic Acids Res 18 (14), 4272 (1990)
   PUBMED   2377478
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.46094.1,
            SRR1803616.245182.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368476.4/ ENSP00000357461.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL592078.10, U62437.1 and
            R40506.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000748.2.
            Summary: Neuronal acetylcholine receptors are homo- or
            heteropentameric complexes composed of homologous alpha and beta
            subunits. They belong to a superfamily of ligand-gated ion channels
            which allow the flow of sodium and potassium across the plasma
            membrane in response to ligands such as acetylcholine and nicotine.
            This gene encodes one of several beta subunits. Mutations in this
            gene are associated with autosomal dominant nocturnal frontal lobe
            epilepsy. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5857
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..5857
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /note="cholinergic receptor nicotinic beta 2 subunit"
                     /db_xref="GeneID:1141"
                     /db_xref="HGNC:HGNC:1962"
                     /db_xref="MIM:118507"
     misc_feature    115..117
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /note="upstream in-frame stop codon"
     CDS             268..1776
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /note="cholinergic receptor, nicotinic, beta polypeptide 2
                     (neuronal); neuronal nicotinic acetylcholine receptor beta
                     2; neuronal acetylcholine receptor subunit beta-2;
                     acetylcholine receptor, nicotinic, beta 2 (neuronal);
                     cholinergic receptor, nicotinic beta 2; beta2 human
                     neuronal nicotinic acetylcholine receptor; cholinergic
                     receptor, nicotinic, beta 2 (neuronal)"
                     /codon_start=1
                     /product="neuronal acetylcholine receptor subunit beta-2
                     precursor"
                     /protein_id="NP_000739.1"
                     /db_xref="CCDS:CCDS1070.1"
                     /db_xref="GeneID:1141"
                     /db_xref="HGNC:HGNC:1962"
                     /db_xref="MIM:118507"
                     /translation="MARRCGPVALLLGFGLLRLCSGVWGTDTEERLVEHLLDPSRYNKL
                     IRPATNGSELVTVQLMVSLAQLISVHEREQIMTTNVWLTQEWEDYRLTWKPEEFDNMKK
                     VRLPSKHIWLPDVVLYNNADGMYEVSFYSNAVVSYDGSIFWLPPAIYKSACKIEVKHFP
                     FDQQNCTMKFRSWTYDRTEIDLVLKSEVASLDDFTPSGEWDIVALPGRRNENPDDSTYV
                     DITYDFIIRRKPLFYTINLIIPCVLITSLAILVFYLPSDCGEKMTLCISVLLALTVFLL
                     LISKIVPPTSLDVPLVGKYLMFTMVLVTFSIVTSVCVLNVHHRSPTTHTMAPWVKVVFL
                     EKLPALLFMQQPRHHCARQRLRLRRRQREREGAGALFFREAPGADSCTCFVNRASVQGL
                     AGAFGAEPAPVAGPGRSGEPCGCGLREAVDGVRFIADHMRSEDDDQSVSEDWKYVAMVI
                     DRLFLWIFVFVCVFGTIGMFLQPLFQNYTTTTFLHSDHSAPSSK"
     sig_peptide     268..342
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     343..1773
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /product="neuronal acetylcholine receptor subunit beta-2"
     misc_feature    418..420
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P17787.1); glycosylation site"
     misc_feature    517..519
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /note="Key residue that may interfere with effective access
                     of the conotoxin BuIA to the channel binding site.
                     /evidence=ECO:0000250|UniProtKB:P12390; propagated from
                     UniProtKB/Swiss-Prot (P17787.1); other site"
     misc_feature    673..675
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /note="Key residue for a rapid dissociation (K(off)) from
                     the conotoxin BuIA. /evidence=ECO:0000250|UniProtKB:P12390;
                     propagated from UniProtKB/Swiss-Prot (P17787.1); other
                     site"
     misc_feature    697..699
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /note="Key residue for a rapid dissociation (K(off)) from
                     the conotoxin BuIA. /evidence=ECO:0000250|UniProtKB:P12390;
                     propagated from UniProtKB/Swiss-Prot (P17787.1); other
                     site"
     misc_feature    769..771
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P17787.1); glycosylation site"
     misc_feature    967..1041
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /note="propagated from UniProtKB/Swiss-Prot (P17787.1);
                     transmembrane region"
     misc_feature    1063..1119
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /note="propagated from UniProtKB/Swiss-Prot (P17787.1);
                     transmembrane region"
     misc_feature    1165..1230
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /note="propagated from UniProtKB/Swiss-Prot (P17787.1);
                     transmembrane region"
     misc_feature    1642..1701
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /note="propagated from UniProtKB/Swiss-Prot (P17787.1);
                     transmembrane region"
     misc_feature    1720..1722
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P17787.1); glycosylation site"
     regulatory      5705..5710
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /note="hexamer: AAGAAA"
     polyA_site      5710
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
     polyA_site      5722
                     /gene="CHRNB2"
                     /gene_synonym="EFNL3; nAChRB2"
                     /note="major polyA site"
ORIGIN
        1 agactcctcc ccctcaccgt cccaattgta ttccctggaa gagcagccgg aaaagcctcc
       61 gcctgctcat accaggatag gcaagaagct ggtttctcct cgcagccggc tccctgaggc
      121 ccaggaacca ccgcggcggc cggcaccacc tggacccagc tccaggcggg cgcggcttca
      181 gcaccacgga cagcgcccca cccgcggccc tccccccggc ggcgcgctcc agccggtgta
      241 ggcgaggcag cgagctatgc ccgcggcatg gcccggcgct gcggccccgt ggcgctgctc
      301 cttggcttcg gcctcctccg gctgtgctca ggggtgtggg gtacggatac agaggagcgg
      361 ctggtggagc atctcctgga tccttcccgc tacaacaagc ttatccgccc agccaccaat
      421 ggctctgagc tggtgacagt acagcttatg gtgtcactgg cccagctcat cagtgtgcat
      481 gagcgggagc agatcatgac caccaatgtc tggctgaccc aggagtggga agattatcgc
      541 ctcacctgga agcctgaaga gtttgacaac atgaagaaag ttcggctccc ttccaaacac
      601 atctggctcc cagatgtggt cctgtacaac aatgctgacg gcatgtacga ggtgtccttc
      661 tattccaatg ccgtggtctc ctatgatggc agcatcttct ggctgccgcc tgccatctac
      721 aagagcgcat gcaagattga agtaaagcac ttcccatttg accagcagaa ctgcaccatg
      781 aagttccgtt cgtggaccta cgaccgcaca gagatcgact tggtgctgaa gagtgaggtg
      841 gccagcctgg acgacttcac acctagtggt gagtgggaca tcgtggcgct gccgggccgg
      901 cgcaacgaga accccgacga ctctacgtac gtggacatca cgtatgactt catcattcgc
      961 cgcaagccgc tcttctacac catcaacctc atcatcccct gtgtgctcat cacctcgcta
     1021 gccatccttg tcttctacct gccatccgac tgtggcgaga agatgacgtt gtgcatctca
     1081 gtgctgctgg cgctcacggt cttcctgctg ctcatctcca agatcgtgcc tcccacctcc
     1141 ctcgacgtgc cgctcgtcgg caagtacctc atgttcacca tggtgcttgt caccttctcc
     1201 atcgtcacca gcgtgtgcgt gctcaacgtg caccaccgct cgcccaccac gcacaccatg
     1261 gcgccctggg tgaaggtcgt cttcctggag aagctgcccg cgctgctctt catgcagcag
     1321 ccacgccatc attgcgcccg tcagcgcctg cgcctgcggc gacgccagcg tgagcgcgag
     1381 ggcgctggag ccctcttctt ccgcgaagcc ccaggggccg actcctgcac gtgcttcgtc
     1441 aaccgcgcgt cggtgcaggg gttggccggg gccttcgggg ctgagcctgc accagtggcg
     1501 ggccccgggc gctcagggga gccgtgtggc tgtggcctcc gggaggcggt ggacggcgtg
     1561 cgcttcatcg cagaccacat gcggagcgag gacgatgacc agagcgtgag tgaggactgg
     1621 aagtacgtcg ccatggtgat cgaccgcctc ttcctctgga tctttgtctt tgtctgtgtc
     1681 tttggcacca tcggcatgtt cctgcagcct ctcttccaga actacaccac caccaccttc
     1741 ctccactcag accactcagc ccccagctcc aagtgaggcc cttcctcatc tccatgctct
     1801 ttcaccctgc caccctctgc tgcacagtag tgttgggtgg aggatggacg agtgagctac
     1861 caggaagagg ggcgctgccc ccacagatcc atccttttgc ttcatctgga gtccctcctc
     1921 ccccacgcct ccatccacac acagcagctc caacctggag gctggaccaa ctgctttgtt
     1981 ttggctgctc tccatctctt gtaccagccc aggcaatagt gttgaggagg ggagcaaggc
     2041 tgctaagtgg aagacagaga tggcagagcc atccaccctg aggagtgatg ggcaaggggc
     2101 caggaagggg acaggattgt ctgctgcctc caagtcatgg gagaagaggg gtataggaca
     2161 aggggtggaa gggcaggagc tcacaccgca ccgggctggc ctgacacaat ggtagctctg
     2221 aagggagggg aagagagagg cctgggtgtg acctgacacc tgccgctgct tgagtggaca
     2281 gcagctggac tgggtgggcc ccacagtggt cagcgattcc tgccaagtag ggtttagccg
     2341 ggccccatgg tcacagaccc ctgggggagg cttccagctc agtcccacag ccccttgctt
     2401 ctaagggatc cagagacctg ctccagatcc tctttcccca ctgaagaatt ctgcaccctc
     2461 tggacttccc tcttcttcct tcctttctca ggctcaaggt gtggggggca aggctgagta
     2521 ttaggggagc ttctgagttc tgaatctttg ggtgacctgc ttggagtctc aggtccaaat
     2581 acttgaaatc tgtgagaagt ccaagttcat gggcttttgg aactggaaga actttgtaca
     2641 gccatggatt ccaacataag ccatgttgca gatgaagaaa ctgacccaca cggtgagaca
     2701 agcacaggtg ggtctgactc ttcctccctg ccctgagatc catctgtcga gtgccctgtt
     2761 ttttccccac tttgaactga ctggttactc taaggaagtg aactgaggat gttagcttta
     2821 agccaaccca gcctctttgt ccacagcaga gctgaggtga acagctggaa ccctgctaca
     2881 tccgtgctgc tccagtctgt tctgctcatg gctccatcct tctggctgtc actcttcctc
     2941 ttccccttcc caaccaaacc tgagcagctt tgaagcagaa cttgggaagg acagggctgc
     3001 tgctgccagc gacacctcag aaagcatagc ctcggcttcc tgccccatgt gtccctggaa
     3061 gctgtaccct gactctgctt ccagaggcca gcagatggtg ggttacagac gggtcagcct
     3121 gccaagtgca cctgagggac ctgacctgac acaagccatt ttgtccctag agcccagctg
     3181 ggactcctgc ttctctaggc agggcagagg gaggagacac agcacaggca cagagcatgg
     3241 gacagggacc cccgagtctg gattcaagtc ctggccctgc tagtaactca tgtgagccag
     3301 cttgagcaag tcccttcatc ttgctagagc tcagcttcct tgcctataaa acgtaggtgg
     3361 caatgccctc ttcctgaggt tgctgggagg ataaggcagt gcttgtgaaa aagtctagcg
     3421 ctgtacctgg cacagagtag atgcttcatg aatgttgagt ctgacaggca actggagctg
     3481 gtgagaatgg ggtcccctga ctgtcatgcc agcctccctc ccaggcccac tcttcccccc
     3541 tcttccctga ggaaaccaag tctcccttat caggaagagc tgggggagct gggaggaaca
     3601 ttacaggaac accagaggga gtctagcggg tgggcaggct tctctctgca gccccctcag
     3661 cagtttcatt ccattcctgg gctgaaccct tgccctggcc ctgcctccct tctgggtcag
     3721 cacctcctga cacaggtgtg tgctcaggga ccccaggctc tagtcctgta ctggctgtgg
     3781 aagcctatca ctgggacagg aagccagtgg ctgcaggaga caggcctcag cgcatctcgt
     3841 ctgtcaggat gggctcacgg acaccttttc ttggtagcag ggagtgtctc tgcactatgg
     3901 aaactttccc tcttctagag cggattggga gttgcctgta ttatgcctga accctccttg
     3961 aactcatggt cctggggaag gcgtcttgga accagaaaca gcaacaggaa aggagcctcc
     4021 ctctgaaggg taggatgccg gcctgaggcc ctccctcttg gctctcccag ggcctgggct
     4081 accccgaggc cccagcagct gctgctgtgg ctgtacttgc ttttaatatt tcccatacat
     4141 ggctgttgtc caagttaagt caccaaatgg tgctagaggg gatggcagag agcagcttgt
     4201 ccagctcctc tccatgaccc ggttaacaca cgagtaaaca ggcctagagc ttgtctgctg
     4261 tttgacctct tttaagaccc ggctgtgctg catctacaaa atgaagatga cagagctagc
     4321 cgaggtcttc agcaaggaag aaaggggtca gtgtatatga aagggttacc tgggcagtgt
     4381 cattccctcc atctctgtac gcagcccttt gggaaccatc acaataagga agaggtgagg
     4441 gcagaggtga aggatccact gcccaggcaa ggtgctacca tgtggtggga gagtgtgaac
     4501 cctcaagtgc actgggaagc tttggggaac cacagtctct tccacccttg ggtcgtgtgt
     4561 cgtcctcttc tcttgatgtc agggaagccc ctatgcctcc ttcccgtggt ggggctatct
     4621 ctgcagagaa tcgggtgccc agcttaatgc tgggcaagga ctggaggaag ctccagatct
     4681 ggaggtggca gagatactgg atggaaacct ggagcaaggg tttgggaggg gaagtgagga
     4741 aacaggttga gactatctcc atcagagatg gcaaggccac aggtgatctg agaactattt
     4801 ttgtctgaaa agaaggcatg cacaggctct ctgcttttga caggtggcgt tgcagtggga
     4861 ggaaggcagc ttcctggcgg ggagatagaa atactagaac agctggtacc aagttattga
     4921 aaatttaaaa gcaaacaaga cacagcagcc cccaggtggt gtgttctact gaggaaggct
     4981 acggcagagg aagggcaaga ccgtttcccc caatggtctt gaaacggaag aggaaacagg
     5041 gagggctctt tggatggttt ggggacctgg ggctgtttgt atcccagtat tagctcctgt
     5101 tactaagggt ctgctctgcg ccaggtcctc agcatgcgtt gtctttattc cgcgtgacaa
     5161 tcctatggga aggggcctcc acctacgtaa cagaaatgcg gctcagaaag accaagtgac
     5221 agctagtgag tagtgctggg cctgaacccc aaagtccaca ctcttgctat agccgctgag
     5281 gcaggcagaa gagctccttg ggaggaaagt aaggggcatt caaagccttc tctgaatcac
     5341 tccccaagcc agagtagacc tggttccagt tgtccccccc ttgtttccgg gcagagtcag
     5401 gcaggtgtca taccatccct ccccgcccaa ccagtgctgg ccagactccc attcaccgac
     5461 cttgactaga cagcgaacag ccacctttta gtattcatcc caacaggtcc aggcggtcag
     5521 tgtgatagcc acgcagttcc taagggactg taggtctagg aatcattagg acactcactc
     5581 agccaccctc gatgccccca tcttccccac actgcccttg gcctccccgc tctgcacgcc
     5641 tggagtattt gcactggtct agcctactcc aggtcagact cattaggaac tcaagattct
     5701 cgtaaagaaa gttgtttcca aagttgtctt gtcactctat ttgggggttg ggagagagcc
     5761 cgtgggggcc agcgttggcg aatacaggaa aaagggagaa tgctggagaa actggactcg
     5821 tgagagctta aagacatcac aagaatccaa agaaaaa
//
LOCUS       NM_000749               2347 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens cholinergic receptor nicotinic beta 3 subunit (CHRNB3),
            transcript variant 1, mRNA.
ACCESSION   NM_000749
VERSION     NM_000749.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2347)
  AUTHORS   Wen L, Han H, Liu Q, Su K, Yang Z, Cui W, Yuan W, Ma Y, Fan R, Chen
            J, Jiang K, Jiang X, Payne TJ, Wang J and Li MD.
  TITLE     Significant association of the CHRNB3-CHRNA6 gene cluster with
            nicotine dependence in the Chinese Han population
  JOURNAL   Sci Rep 7 (1), 9745 (2017)
   PUBMED   28851948
  REMARK    GeneRIF: This study is the first showing that CHRNB3/A6 are highly
            associated with nicotine dependence in a large Chinese Han sample.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2347)
  AUTHORS   Jain A, Kuryatov A, Wang J, Kamenecka TM and Lindstrom J.
  TITLE     Unorthodox Acetylcholine Binding Sites Formed by alpha5 and beta3
            Accessory Subunits in alpha4beta2* Nicotinic Acetylcholine Receptors
  JOURNAL   J Biol Chem 291 (45), 23452-23463 (2016)
   PUBMED   27645992
  REMARK    GeneRIF: This study shows that unorthodox acetylcholine binding
            sites can form at the alpha5/alpha4 and beta3/alpha4 interfaces in
            (alpha4beta2)2alpha5 and (alpha4beta2)2beta3 nicotinic acetylcholine
            receptors (nAChRs) and at the alpha4/alpha5 in (beta2alpha4)2alpha5
            nAChRs.
REFERENCE   3  (bases 1 to 2347)
  AUTHORS   Kamens HM, Corley RP, Richmond PA, Darlington TM, Dowell R, Hopfer
            CJ, Stallings MC, Hewitt JK, Brown SA and Ehringer MA.
  TITLE     Evidence for Association Between Low Frequency Variants in
            CHRNA6/CHRNB3 and Antisocial Drug Dependence
  JOURNAL   Behav Genet 46 (5), 693-704 (2016)
   PUBMED   27085880
  REMARK    GeneRIF: More low frequency variants in the CHRNA6/CHRNB3 gene
            region were observed in cases compared to controls.
REFERENCE   4  (bases 1 to 2347)
  AUTHORS   Wen L, Yang Z, Cui W and Li MD.
  TITLE     Crucial roles of the CHRNB3-CHRNA6 gene cluster on chromosome 8 in
            nicotine dependence: update and subjects for future research
  JOURNAL   Transl Psychiatry 6 (6), e843 (2016)
   PUBMED   27327258
  REMARK    GeneRIF: To gain a better understanding of the pathological
            processes underlying ND and ND-related behaviors and to promote the
            development of effective smoking cessation therapies, we here
            present the most recent studies concerning the genetic effects of
            the CHRNB3-CHRNA6 gene cluster in ND. Review article Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 2347)
  AUTHORS   Kamens HM, Miyamoto J, Powers MS, Ro K, Soto M, Cox R, Stitzel JA
            and Ehringer MA.
  TITLE     The beta3 subunit of the nicotinic acetylcholine receptor:
            Modulation of gene expression and nicotine consumption
  JOURNAL   Neuropharmacology 99, 639-649 (2015)
   PUBMED   26318101
  REMARK    GeneRIF: Data provide evidence that the protective genetic variant
            at rs6474413 identified in human genetic studies reduces gene
            expression and that decreased beta3 gene expression in mice reduces
            nicotine intake
REFERENCE   6  (bases 1 to 2347)
  AUTHORS   Elliott KJ, Ellis SB, Berckhan KJ, Urrutia A, Chavez-Noriega LE,
            Johnson EC, Velicelebi G and Harpold MM.
  TITLE     Comparative structure of human neuronal alpha 2-alpha 7 and beta
            2-beta 4 nicotinic acetylcholine receptor subunits and functional
            expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and
            beta 4 subunits
  JOURNAL   J Mol Neurosci 7 (3), 217-228 (1996)
   PUBMED   8906617
REFERENCE   7  (bases 1 to 2347)
  AUTHORS   Green WN and Millar NS.
  TITLE     Ion-channel assembly
  JOURNAL   Trends Neurosci 18 (6), 280-287 (1995)
   PUBMED   7571003
  REMARK    Review article
REFERENCE   8  (bases 1 to 2347)
  AUTHORS   Koyama K, Sudo K and Nakamura Y.
  TITLE     Mapping of the human nicotinic acetylcholine receptor beta 3 gene
            (CHRNB3) within chromosome 8p11.2
  JOURNAL   Genomics 21 (2), 460-461 (1994)
   PUBMED   8088849
REFERENCE   9  (bases 1 to 2347)
  AUTHORS   Willoughby JJ, Ninkina NN, Beech MM, Latchman DS and Wood JN.
  TITLE     Molecular cloning of a human neuronal nicotinic acetylcholine
            receptor beta 3-like subunit
  JOURNAL   Neurosci Lett 155 (2), 136-139 (1993)
   PUBMED   7690916
REFERENCE   10  (bases 1 to 2347)
  AUTHORS   Anand R and Lindstrom J.
  TITLE     Chromosomal localization of seven neuronal nicotinic acetylcholine
            receptor subunit genes in humans
  JOURNAL   Genomics 13 (4), 962-967 (1992)
   PUBMED   1505988
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.105406.1,
            SRR1803616.72644.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03465402
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000289957.3/ ENSP00000289957.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090739.13, AC103843.3 and AC087533.7.
            On May 17, 2019 this sequence version replaced NM_000749.4.
            Summary: The nicotinic acetylcholine receptors (nAChRs) are members
            of a superfamily of ligand-gated ion channels that mediate fast
            signal transmission at synapses. The nAChRs are (hetero)pentamers
            composed of homologous subunits. The subunits that make up the
            muscle and neuronal forms of nAChRs are encoded by separate genes
            and have different primary structure. There are several subtypes of
            neuronal nAChRs that vary based on which homologous subunits are
            arranged around the central channel. They are classified as
            alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a
            pair of adjacent cysteines as part of the presumed acetylcholine
            binding site. Subunits lacking these cysteine residues are
            classified as beta-subunits (Groot Kormelink and Luyten, 1997
            [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated
            that the proposed structure for each subunit is a conserved
            N-terminal extracellular domain followed by 3 conserved
            transmembrane domains, a variable cytoplasmic loop, a fourth
            conserved transmembrane domain, and a short C-terminal
            extracellular region.[supplied by OMIM, Apr 2010].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..2347
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.21"
     gene            1..2347
                     /gene="CHRNB3"
                     /note="cholinergic receptor nicotinic beta 3 subunit"
                     /db_xref="GeneID:1142"
                     /db_xref="HGNC:HGNC:1963"
                     /db_xref="MIM:118508"
     misc_feature    143..145
                     /gene="CHRNB3"
                     /note="upstream in-frame stop codon"
     CDS             182..1558
                     /gene="CHRNB3"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; cholinergic receptor, nicotinic, beta polypeptide 3;
                     neuronal acetylcholine receptor subunit beta-3;
                     acetylcholine receptor, neuronal nicotinic, beta-3 subunit;
                     acetylcholine receptor, nicotinic, beta 3 (neuronal);
                     cholinergic receptor, nicotinic, beta 3 (neuronal);
                     cholinergic receptor, nicotinic beta 3"
                     /codon_start=1
                     /product="neuronal acetylcholine receptor subunit beta-3
                     isoform 1 precursor"
                     /protein_id="NP_000740.1"
                     /db_xref="CCDS:CCDS6134.1"
                     /db_xref="GeneID:1142"
                     /db_xref="HGNC:HGNC:1963"
                     /db_xref="MIM:118508"
                     /translation="MLPDFMLVLIVLGIPSSATTGFNSIAENEDALLRHLFQGYQKWVR
                     PVLHSNDTIKVYFGLKISQLVDVDEKNQLMTTNVWLKQEWTDHKLRWNPDDYGGIHSIK
                     VPSESLWLPDIVLFENADGRFEGSLMTKVIVKSNGTVVWTPPASYKSSCTMDVTFFPFD
                     RQNCSMKFGSWTYDGTMVDLILINENVDRKDFFDNGEWEILNAKGMKGNRRDGVYSYPF
                     ITYSFVLRRLPLFYTLFLIIPCLGLSFLTVLVFYLPSDEGEKLSLSTSVLVSLTVFLLV
                     IEEIIPSSSKVIPLIGEYLLFIMIFVTLSIIVTVFVINVHHRSSSTYHPMAPWVKRLFL
                     QKLPKLLCMKDHVDRYSSPEKEESQPVVKGKVLEKKKQKQLSDGEKVLVAFLEKAADSI
                     RYISRHVKKEHFISQVVQDWKFVAQVLDRIFLWLFLIVSVTGSVLIFTPALKMWLHSYH
                     "
     sig_peptide     182..253
                     /gene="CHRNB3"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q05901.2)"
     mat_peptide     254..1555
                     /gene="CHRNB3"
                     /product="Neuronal acetylcholine receptor subunit beta-3.
                     /id=PRO_0000000383"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05901.2)"
     misc_feature    332..334
                     /gene="CHRNB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q05901.2); glycosylation site"
     misc_feature    593..595
                     /gene="CHRNB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q05901.2); glycosylation site"
     misc_feature    677..679
                     /gene="CHRNB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q05901.2); glycosylation site"
     misc_feature    878..952
                     /gene="CHRNB3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05901.2);
                     transmembrane region"
     misc_feature    974..1027
                     /gene="CHRNB3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05901.2);
                     transmembrane region"
     misc_feature    1076..1141
                     /gene="CHRNB3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05901.2);
                     transmembrane region"
     misc_feature    1466..1522
                     /gene="CHRNB3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q05901.2);
                     transmembrane region"
ORIGIN
        1 gagaagcggc acactcggcg agaggggttg agattgtttt attccactcc aggtgttgct
       61 gtcctcttgg gttccacttc ggattttgaa cccctgtatt ttcttttcaa aacccccttt
      121 tccagtggaa atgctctgtt gttaaaaagg aagaaactgt ctttctgaaa ctgacatcac
      181 gatgctccca gattttatgc tggttctcat cgtccttggc atcccttcct cagccaccac
      241 aggtttcaac tcaatcgccg aaaatgaaga tgccctcctc agacatttgt tccaaggtta
      301 tcagaaatgg gtccgccctg tattacattc taatgacacc ataaaagtat attttggatt
      361 gaaaatatcc cagcttgtag atgtggatga aaagaatcag ctgatgacaa ccaatgtgtg
      421 gctcaaacag gaatggacag accacaagtt acgctggaat cctgatgatt atggtgggat
      481 ccattccatt aaagttccat cagaatctct gtggcttcct gacatagttc tctttgaaaa
      541 tgctgacggc cgcttcgaag gctccctgat gaccaaggtc atcgtgaaat caaacggaac
      601 tgttgtctgg acccctcccg ccagctacaa aagctcctgc accatggacg tcacgttttt
      661 cccgttcgac cgacagaact gctccatgaa gtttggatcc tggacttatg atggcaccat
      721 ggttgacctc attttgatca atgaaaatgt cgacagaaaa gacttcttcg ataacggaga
      781 atgggaaata ctgaacgcaa aggggatgaa ggggaacaga agggacggcg tgtactccta
      841 tccctttatc acgtattcct tcgtcctgag acgcctgcct ttattctata ccctctttct
      901 catcatcccc tgcctggggc tgtctttcct aacagttctt gtgttctatt taccttcgga
      961 tgaaggagaa aaactttcat tatccacatc ggtcttggtt tctctgacag ttttcctttt
     1021 agtgattgaa gaaatcatcc catcgtcttc caaagtcatt cctctcattg gagagtacct
     1081 gctgttcatc atgatttttg tgaccctgtc catcattgtt accgtgtttg tcattaacgt
     1141 tcaccacaga tcttcttcca cgtaccaccc catggccccc tgggttaaga ggctctttct
     1201 gcagaaactt ccaaaattac tttgcatgaa agatcatgtg gatcgctact catccccaga
     1261 gaaagaggag agtcaaccag tagtgaaagg caaagtcctc gaaaaaaaga aacagaaaca
     1321 gcttagtgat ggagaaaaag ttctagttgc ttttttggaa aaagctgctg attccattag
     1381 atacatttcg agacatgtga agaaagaaca ttttatcagc caggtagtac aagactggaa
     1441 atttgtagct caagttcttg accgaatctt cctgtggctc tttctgatag tgtcagtaac
     1501 aggctcggtt ctgattttta cccctgcttt gaagatgtgg ctacatagtt accattagga
     1561 atttaaaaga cataagacta aattacacct tagacctgac atctggctat cacacagaca
     1621 gaatccaaat gcatgtgctt gttctacgaa ccccgaatgc gttgtctttg tggaaatgga
     1681 acatctcctc atgggagaaa ctctggtaaa tgtgctcatt tgtggttgcc atgagagtga
     1741 gctgctttta aagaaagtgg agcctcctca gacccctgcc ttggctttcc cagacattca
     1801 gggagggatc ataggtccag gcttgagctc acatgtggcc agagtgcaca aaaagctgtt
     1861 gctacttggt ggaggaacac ctcctagaag cagcaggcct cggtggtggg ggagggggga
     1921 ttcacctgga attaaggaag tctcggtgtc gagctatctg tgtgggcaga gcctggatct
     1981 cccaccctgc actggcctcc ttggtggttt tgtctgagct gcaaactggg gccgtgttat
     2041 gcttgttagc aatgggccag gcaaatctca acaagggttt ggggattaca ctggcaggat
     2101 agctggcact gcacacttaa caataacaca gattccaagt tgcctggcct accgaagcag
     2161 gtgttattca tggtttattc ccagcatgat aaggctttca gatggtgaaa ctggagccca
     2221 ctgtgagctg tgacttcctt taaggtcatg cataccaaaa taactcacaa tagaaacaaa
     2281 gccctttgct accagaagtg gattcattaa tacccattat cttttcctag taaactagtg
     2341 tacagaa
//
LOCUS       NM_000750               2596 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens cholinergic receptor nicotinic beta 4 subunit (CHRNB4),
            transcript variant 1, mRNA.
ACCESSION   NM_000750
VERSION     NM_000750.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2596)
  AUTHORS   Yi X, Li W, Wang Y, Chen X, Ye F, Sun G and Chen J.
  TITLE     The relationship between CHRNA5/A3/B4 gene cluster polymorphisms and
            lung cancer risk: An updated meta-analysis and systematic review
  JOURNAL   Medicine (Baltimore) 100 (6), e24355 (2021)
   PUBMED   33578531
  REMARK    GeneRIF: The relationship between CHRNA5/A3/B4 gene cluster
            polymorphisms and lung cancer risk: An updated meta-analysis and
            systematic review.
REFERENCE   2  (bases 1 to 2596)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2596)
  AUTHORS   Lee SH, Ahn WY, Seweryn M and Sadee W.
  TITLE     Combined genetic influence of the nicotinic receptor gene cluster
            CHRNA5/A3/B4 on nicotine dependence
  JOURNAL   BMC Genomics 19 (1), 826 (2018)
   PUBMED   30453884
  REMARK    GeneRIF: Results indicate rs4887074 is associated with nicotinic
            receptor CHRNB4 expression, and along with two regulatory variants
            of nicotinic receptors CHRNA3 and CHRNA5, modulates the effect of
            rs16969968 on nicotine dependence risk. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 2596)
  AUTHORS   Rosenberger A, Hung RJ, Christiani DC, Caporaso NE, Liu G, Bojesen
            SE, Le Marchand L, Haiman CA, Albanes D, Aldrich MC, Tardon A,
            Fernandez-Tardon G, Rennert G, Field JK, Kiemeney B, Lazarus P,
            Haugen A, Zienolddiny S, Lam S, Schabath MB, Andrew AS, Brunnsstom
            H, Goodman GE, Doherty JA, Chen C, Teare MD, Wichmann HE, Manz J,
            Risch A, Muley TR, Johansson M, Brennan P, Landi MT, Amos CI, Pesch
            B, Johnen G, Bruning T, Bickeboller H and Gomolka M.
  TITLE     Genetic modifiers of radon-induced lung cancer risk: a genome-wide
            interaction study in former uranium miners
  JOURNAL   Int Arch Occup Environ Health 91 (8), 937-950 (2018)
   PUBMED   29971594
  REMARK    GeneRIF: We discovered a genome-wide significant interaction of the
            marker rs12440014 within the gene CHRNB4. The well-established
            association of the genomic region 15q25 to lung cancer might be
            influenced by exposure to radon among uranium miners.
REFERENCE   5  (bases 1 to 2596)
  AUTHORS   Schaaf CP.
  TITLE     Nicotinic acetylcholine receptors in human genetic disease
  JOURNAL   Genet Med 16 (9), 649-656 (2014)
   PUBMED   24556925
  REMARK    Review article
REFERENCE   6  (bases 1 to 2596)
  AUTHORS   Hurst R, Rollema H and Bertrand D.
  TITLE     Nicotinic acetylcholine receptors: from basic science to
            therapeutics
  JOURNAL   Pharmacol Ther 137 (1), 22-54 (2013)
   PUBMED   22925690
  REMARK    Review article
REFERENCE   7  (bases 1 to 2596)
  AUTHORS   Groot Kormelink PJ and Luyten WH.
  TITLE     Cloning and sequence of full-length cDNAs encoding the human
            neuronal nicotinic acetylcholine receptor (nAChR) subunits beta3 and
            beta4 and expression of seven nAChR subunits in the human
            neuroblastoma cell line SH-SY5Y and/or IMR-32
  JOURNAL   FEBS Lett 400 (3), 309-314 (1997)
   PUBMED   9009220
REFERENCE   8  (bases 1 to 2596)
  AUTHORS   Tarroni P, Rubboli F, Chini B, Zwart R, Oortgiesen M, Sher E and
            Clementi F.
  TITLE     Neuronal-type nicotinic receptors in human neuroblastoma and
            small-cell lung carcinoma cell lines
  JOURNAL   FEBS Lett 312 (1), 66-70 (1992)
   PUBMED   1330682
REFERENCE   9  (bases 1 to 2596)
  AUTHORS   Anand R and Lindstrom J.
  TITLE     Chromosomal localization of seven neuronal nicotinic acetylcholine
            receptor subunit genes in humans
  JOURNAL   Genomics 13 (4), 962-967 (1992)
   PUBMED   1505988
REFERENCE   10  (bases 1 to 2596)
  AUTHORS   Raimondi E, Rubboli F, Moralli D, Chini B, Fornasari D, Tarroni P,
            De Carli L and Clementi F.
  TITLE     Chromosomal localization and physical linkage of the genes encoding
            the human alpha 3, alpha 5, and beta 4 neuronal nicotinic receptor
            subunits
  JOURNAL   Genomics 12 (4), 849-850 (1992)
   PUBMED   1572664
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.91133.1, U48861.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145544,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000261751.8/ ENSP00000261751.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC067863.19, CN366252.1,
            BX348201.1, BF311784.1, BC096081.1, HY213565.1, U62439.1,
            BY795907.2, U48861.1 and AI625439.1.
            On Nov 22, 2018 this sequence version replaced NM_000750.4.
            Summary: This gene is found within a conserved gene cluster and
            encodes one of the beta subunits of the nicotinic acetylcholine
            receptor (nAChRs) superfamily which form ligand-gated ion channels
            with a central pore that forms a cation channel. Neuronal nAChRs
            are pentameric structures that can be either homomeric or
            heteromeric, with heteromeric structures containing both alpha and
            beta subunits. Each subunit contains an extracellular amino
            terminus and four transmembrane domains. Nicotine is one of the
            agonists that binds to the receptor. Variants in this gene have
            been associated with nicotine dependence and lung cancer.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Sep 2017].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2596
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.1"
     gene            1..2596
                     /gene="CHRNB4"
                     /note="cholinergic receptor nicotinic beta 4 subunit"
                     /db_xref="GeneID:1143"
                     /db_xref="HGNC:HGNC:1964"
                     /db_xref="MIM:118509"
     misc_feature    30..32
                     /gene="CHRNB4"
                     /note="upstream in-frame stop codon"
     CDS             78..1574
                     /gene="CHRNB4"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; cholinergic receptor, nicotinic, beta polypeptide 4;
                     neuronal acetylcholine receptor subunit beta-4; neuronal
                     nicotinic receptor beta 4 subunit; acetylcholine receptor,
                     nicotinic, beta 4 (neuronal); cholinergic receptor,
                     nicotinic, beta 4 (neuronal)"
                     /codon_start=1
                     /product="neuronal acetylcholine receptor subunit beta-4
                     isoform 1 precursor"
                     /protein_id="NP_000741.1"
                     /db_xref="CCDS:CCDS10306.1"
                     /db_xref="GeneID:1143"
                     /db_xref="HGNC:HGNC:1964"
                     /db_xref="MIM:118509"
                     /translation="MRRAPSLVLFFLVALCGRGNCRVANAEEKLMDDLLNKTRYNNLIR
                     PATSSSQLISIKLQLSLAQLISVNEREQIMTTNVWLKQEWTDYRLTWNSSRYEGVNILR
                     IPAKRIWLPDIVLYNNADGTYEVSVYTNLIVRSNGSVLWLPPAIYKSACKIEVKYFPFD
                     QQNCTLKFRSWTYDHTEIDMVLMTPTASMDDFTPSGEWDIVALPGRRTVNPQDPSYVDV
                     TYDFIIKRKPLFYTINLIIPCVLTTLLAILVFYLPSDCGEKMTLCISVLLALTFFLLLI
                     SKIVPPTSLDVPLIGKYLMFTMVLVTFSIVTSVCVLNVHHRSPSTHTMAPWVKRCFLHK
                     LPTFLFMKRPGPDSSPARAFPPSKSCVTKPEATATSTSPSNFYGNSMYFVNPASAASKS
                     PAGSTPVAIPRDFWLRSSGRFRQDVQEALEGVSFIAQHMKNDDEDQSVVEDWKYVAMVV
                     DRLFLWVFMFVCVLGTVGLFLPPLFQTHAASEGPYAAQRD"
     sig_peptide     78..140
                     /gene="CHRNB4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     141..1571
                     /gene="CHRNB4"
                     /product="Neuronal acetylcholine receptor subunit beta-4.
                     /id=PRO_0000000389"
                     /note="propagated from UniProtKB/Swiss-Prot (P30926.2)"
     misc_feature    183..185
                     /gene="CHRNB4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30926.2); glycosylation site"
     misc_feature    321..323
                     /gene="CHRNB4"
                     /note="Key residue that facilitates effective access of the
                     conotoxin BuIA to the channel binding site.
                     /evidence=ECO:0000250|UniProtKB:P12392; propagated from
                     UniProtKB/Swiss-Prot (P30926.2); other site"
     misc_feature    354..356
                     /gene="CHRNB4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30926.2); glycosylation site"
     misc_feature    477..479
                     /gene="CHRNB4"
                     /note="Key residue for a low dissociation (K(off)) from the
                     conotoxin BuIA. /evidence=ECO:0000250|UniProtKB:P12392;
                     propagated from UniProtKB/Swiss-Prot (P30926.2); other
                     site"
     misc_feature    489..491
                     /gene="CHRNB4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30926.2); glycosylation site"
     misc_feature    573..575
                     /gene="CHRNB4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30926.2); glycosylation site"
     misc_feature    786..848
                     /gene="CHRNB4"
                     /note="propagated from UniProtKB/Swiss-Prot (P30926.2);
                     transmembrane region"
     misc_feature    873..935
                     /gene="CHRNB4"
                     /note="propagated from UniProtKB/Swiss-Prot (P30926.2);
                     transmembrane region"
     misc_feature    972..1034
                     /gene="CHRNB4"
                     /note="propagated from UniProtKB/Swiss-Prot (P30926.2);
                     transmembrane region"
     misc_feature    1146..1208
                     /gene="CHRNB4"
                     /note="propagated from UniProtKB/Swiss-Prot (P30926.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1458..1520
                     /gene="CHRNB4"
                     /note="propagated from UniProtKB/Swiss-Prot (P30926.2);
                     transmembrane region"
     regulatory      2576..2581
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNB4"
                     /note="hexamer: AATAAA"
     polyA_site      2596
                     /gene="CHRNB4"
                     /note="major polyA site"
ORIGIN
        1 actcgaccgc gcggctcacg ggtgccctgt gaccccacag cggagctcgc ggcggctgcc
       61 acccggcccc gccggccatg aggcgcgcgc cttccctggt ccttttcttc ctggtcgccc
      121 tttgcgggcg cgggaactgc cgcgtggcca atgcggagga aaagctgatg gacgaccttc
      181 tgaacaaaac ccgttacaat aacctgatcc gcccagccac cagctcctca cagctcatct
      241 ccatcaagct gcagctctcc ctggcccagc ttatcagcgt gaatgagcga gagcagatca
      301 tgaccaccaa tgtctggctg aaacaggaat ggactgatta ccgcctgacc tggaacagct
      361 cccgctacga gggtgtgaac atcctgagga tccctgcaaa gcgcatctgg ttgcctgaca
      421 tcgtgcttta caacaacgcc gacgggacct atgaggtgtc tgtctacacc aacttgatag
      481 tccggtccaa cggcagcgtc ctgtggctgc cccctgccat ctacaagagc gcctgcaaga
      541 ttgaggtgaa gtactttccc ttcgaccagc agaactgcac cctcaagttc cgctcctgga
      601 cctatgacca cacggagata gacatggtcc tcatgacgcc cacagccagc atggatgact
      661 ttactcccag tggtgagtgg gacatagtgg ccctcccagg gagaaggaca gtgaacccac
      721 aagaccccag ctacgtggac gtgacttacg acttcatcat caagcgcaag cctctgttct
      781 acaccatcaa cctcatcatc ccctgcgtgc tcaccacctt gctggccatc ctcgtcttct
      841 acctgccatc cgactgcggc gagaagatga cactgtgcat ctcagtgctg ctggcactga
      901 cattcttcct gctgctcatc tccaagatcg tgccacccac ctccctcgat gtgcctctca
      961 tcggcaagta cctcatgttc accatggtgc tggtcacctt ctccatcgtc accagcgtct
     1021 gtgtgctcaa tgtgcaccac cgctcgccca gcacccacac catggcaccc tgggtcaagc
     1081 gctgcttcct gcacaagctg cctaccttcc tcttcatgaa gcgccctggc cccgacagca
     1141 gcccggccag agccttcccg cccagcaagt catgcgtgac caagcccgag gccaccgcca
     1201 cctccaccag cccctccaac ttctatggga actccatgta ctttgtgaac cccgcctctg
     1261 cagcttccaa gtctccagcc ggctctaccc cggtggctat ccccagggat ttctggctgc
     1321 ggtcctctgg gaggttccga caggatgtgc aggaggcatt agaaggtgtc agcttcatcg
     1381 cccagcacat gaagaatgac gatgaagacc agagtgtcgt tgaggactgg aagtacgtgg
     1441 ctatggtggt ggaccggctg ttcctgtggg tgttcatgtt tgtgtgcgtc ctgggcactg
     1501 tggggctctt cctaccgccc ctcttccaga cccatgcagc ttctgagggg ccctacgctg
     1561 cccagcgtga ctgagggccc cctgggttgt ggggtgagag gatgtgagtg gccgggtggg
     1621 cactttgctg cttctttctg ggttgtggct gatgaggccc taagtaaata tgtgagcatt
     1681 ggccatcaac cccatcaaac cagccacagc cgtggaacag gcaaggatgg gggcctgggc
     1741 tgtcctctct gaatgccttg gagggatccc aggaagcccc agtaggaggg agcttcagac
     1801 agttcaattc tggcctgtct tccttccctg caccgggcaa tggggataaa gatgacttcg
     1861 tagcagcacc tactatgctt caggcatggt gccggcctgc ctctccatca ccatctctct
     1921 ccacttcccc ttgtccagtt cctcacacac ttctagattc ttcccagctc agaggcttgg
     1981 catttgccat atcatcatct tttttttttt cttttaaacg gagtcttgct atatcgccca
     2041 ggctcaagtg attctcctgc ctcaacctcc caagtagctg ggattacaga aagccgccac
     2101 cgtgcccagc taatttttgt atttttgttg gccaggctga tttcgaactc ctgacctcaa
     2161 atgacccacc tgcctcggcc tcccaaagtg ctaggattac aagtgtgagc cactatgcct
     2221 ggccttccct atcttctacc tgaaccttct tcctcttccc ccagggcttc ccaagctctt
     2281 tccacagcca catcagtcag ggcatggctc caatccattc tttgctccaa tgtcacctcc
     2341 tctgagaggc cttccctaac cacccaatca ttctaaagca gcctccctac agtcacgtta
     2401 ccctgcctcc ttcctcgagc actcctgtgt acctgtcgct cttatctggt ggcatgtatg
     2461 tcatccacag ctcacccact agagtgtgag ctccatgaga acagggacct gctccttcac
     2521 attcgtggta gtatccccag ggcctaggac agagcttggc acacagtagg tgctcaataa
     2581 atgtttgttg aatgaa
//
LOCUS       NM_000751               2962 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens cholinergic receptor nicotinic delta subunit (CHRND),
            transcript variant 1, mRNA.
ACCESSION   NM_000751
VERSION     NM_000751.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2962)
  AUTHORS   Liu Y, Ye S, Zhang H, Zhang K, Lyu Y, Gao M, Gai Z and Liu Y.
  TITLE     [Clinical and genetic analysis of a patient with slow-channel
            congenital myasthenic syndrome]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 37 (5), 551-554 (2020)
   PUBMED   32335884
  REMARK    GeneRIF: child was diagnosed with slow-channel congenital myasthenic
            syndrome (SCCMS) type 3A caused by heterozygous variant of the CHRND
            gene Review article
REFERENCE   2  (bases 1 to 2962)
  AUTHORS   Shen XM, Brengman J, Neubauer D, Sine SM and Engel AG.
  TITLE     Investigation of Congenital Myasthenia Reveals Functional Asymmetry
            of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates
  JOURNAL   J Biol Chem 291 (7), 3291-3301 (2016)
   PUBMED   26698174
  REMARK    GeneRIF: Data suggest mutation in invariant Cys-loop of CHRND
            (D140N) observed in muscle of one patient (11 y/o girl) with
            congenital myasthenia (w/ severe muscle weakness) alters
            conformation of ligand/acetylcholine binding site and receptor
            functionality.
REFERENCE   3  (bases 1 to 2962)
  AUTHORS   Park JY, Mott M, Williams T, Ikeda H, Wen H, Linhoff M and Ono F.
  TITLE     A single mutation in the acetylcholine receptor delta-subunit causes
            distinct effects in two types of neuromuscular synapses
  JOURNAL   J Neurosci 34 (31), 10211-10218 (2014)
   PUBMED   25080583
  REMARK    GeneRIF: This study showed that a single mutation of the delta
            subunit, L332P, allows the synapse in slow muscles to function but
            renders those in fast muscles almost nonfunctional.
REFERENCE   4  (bases 1 to 2962)
  AUTHORS   Rudell JC, Borges LS, Rudell JB, Beck KA and Ferns MJ.
  TITLE     Determinants in the beta and delta subunit cytoplasmic loop regulate
            Golgi trafficking and surface expression of the muscle acetylcholine
            receptor
  JOURNAL   J Biol Chem 289 (1), 203-214 (2014)
   PUBMED   24240098
  REMARK    GeneRIF: These findings identify novel Golgi retention signals in
            the beta and delta subunit loops that regulate surface trafficking
            of assembled AChR and may help prevent surface expression of
            unassembled subunits.
REFERENCE   5  (bases 1 to 2962)
  AUTHORS   Kodaganur SG, Tontanahal SJ, Sarda A, Shah MH, Bhat V and Kumar A.
  TITLE     Clinical phenotype and the lack of mutations in the CHRNG, CHRND,
            and CHRNA1 genes in two Indian families with Escobar syndrome
  JOURNAL   Clin Dysmorphol 22 (2), 54-58 (2013)
   PUBMED   23448903
  REMARK    GeneRIF: No mutations were found in CHRNG, CHRND and CHRNA1 genes of
            Indian families with Escobar syndrome.
REFERENCE   6  (bases 1 to 2962)
  AUTHORS   Kreienkamp HJ, Maeda RK, Sine SM and Taylor P.
  TITLE     Intersubunit contacts governing assembly of the mammalian nicotinic
            acetylcholine receptor
  JOURNAL   Neuron 14 (3), 635-644 (1995)
   PUBMED   7695910
REFERENCE   7  (bases 1 to 2962)
  AUTHORS   Pasteris NG, Trask BJ, Sheldon S and Gorski JL.
  TITLE     Discordant phenotype of two overlapping deletions involving the PAX3
            gene in chromosome 2q35
  JOURNAL   Hum Mol Genet 2 (7), 953-959 (1993)
   PUBMED   8103404
REFERENCE   8  (bases 1 to 2962)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301347
REFERENCE   9  (bases 1 to 2962)
  AUTHORS   Beeson D, Jeremiah S, West LF, Povey S and Newsom-Davis J.
  TITLE     Assignment of the human nicotinic acetylcholine receptor genes: the
            alpha and delta subunit genes to chromosome 2 and the beta subunit
            gene to chromosome 17
  JOURNAL   Ann Hum Genet 54 (3), 199-208 (1990)
   PUBMED   2221824
REFERENCE   10  (bases 1 to 2962)
  AUTHORS   Luther MA, Schoepfer R, Whiting P, Casey B, Blatt Y, Montal MS,
            Montal M and Linstrom J.
  TITLE     A muscle acetylcholine receptor is expressed in the human cerebellar
            medulloblastoma cell line TE671
  JOURNAL   J Neurosci 9 (3), 1082-1096 (1989)
   PUBMED   2564429
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK291526.1, X55019.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03465413
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000258385.8/ ENSP00000258385.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK300109.1, X55019.1 and
            AC092165.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000751.2.
            Summary: The acetylcholine receptor of muscle has 5 subunits of 4
            different types: 2 alpha and 1 each of beta, gamma and delta
            subunits. After acetylcholine binding, the receptor undergoes an
            extensive conformation change that affects all subunits and leads
            to opening of an ion-conducting channel across the plasma membrane.
            Defects in this gene are a cause of multiple pterygium syndrome
            lethal type (MUPSL), congenital myasthenic syndrome slow-channel
            type (SCCMS), and congenital myasthenic syndrome fast-channel type
            (FCCMS). Several transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2015].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2962
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..2962
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /note="cholinergic receptor nicotinic delta subunit"
                     /db_xref="GeneID:1144"
                     /db_xref="HGNC:HGNC:1965"
                     /db_xref="MIM:100720"
     misc_feature    15..17
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /note="upstream in-frame stop codon"
     CDS             57..1610
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; cholinergic receptor, nicotinic, delta polypeptide;
                     acetylcholine receptor subunit delta; acetylcholine
                     receptor, nicotinic, delta (muscle); cholinergic receptor,
                     nicotinic, delta (muscle); cholinergic receptor, nicotinic
                     delta"
                     /codon_start=1
                     /product="acetylcholine receptor subunit delta isoform 1
                     precursor"
                     /protein_id="NP_000742.1"
                     /db_xref="CCDS:CCDS2494.1"
                     /db_xref="GeneID:1144"
                     /db_xref="HGNC:HGNC:1965"
                     /db_xref="MIM:100720"
                     /translation="MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPV
                     AHKEESVDVALALTLSNLISLKEVEETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLP
                     PDMVWLPEIVLENNNDGSFQISYSCNVLVYHYGFVYWLPPAIFRSSCPISVTYFPFDWQ
                     NCSLKFSSLKYTAKEITLSLKQDAKENRTYPVEWIIIDPEGFTENGEWEIVHRPARVNV
                     DPRAPLDSPSRQDITFYLIIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSVA
                     ISVLLAQSVFLLLISKRLPATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPST
                     HVLSEGVKKLFLETLPELLHMSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDL
                     MFEKQSERHGLARRLTTARRPPASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEE
                     KDSWNRVARTVDRLCLFVVTPVMVVGTAWIFLQGVYNQPPPQPFPGDPYSYNVQDKRFI
                     "
     sig_peptide     57..119
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     120..1607
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /product="Acetylcholine receptor subunit delta.
                     /id=PRO_0000000322"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07001.1)"
     misc_feature    345..347
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q07001.1); glycosylation site"
     misc_feature    546..548
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q07001.1); glycosylation site"
     misc_feature    792..866
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07001.1);
                     transmembrane region"
     misc_feature    888..953
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07001.1);
                     transmembrane region"
     misc_feature    990..1055
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07001.1);
                     transmembrane region"
     misc_feature    1224..1226
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /note="Phosphotyrosine, by Tyr-kinases.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (Q07001.1); phosphorylation site"
     misc_feature    1470..1526
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07001.1);
                     transmembrane region"
     regulatory      2938..2943
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /note="hexamer: AATAAA"
     polyA_site      2962
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /note="major polyA site"
ORIGIN
        1 attccacagc cctgtagaca ggaggggcag atgcacgtcc cagtcagagg gatgggatgg
       61 aggggccagt gctgacactg gggctgctgg ctgccctggc ggtgtgtggc agctgggggc
      121 tgaacgagga ggagcggctg atccggcacc tgtttcaaga gaagggctac aacaaggagc
      181 tccggcccgt ggcacacaaa gaggagagtg tggacgttgc cctggccctc acactctcca
      241 acctcatctc cctgaaagaa gttgaggaga ccctcactac caatgtgtgg atagagcacg
      301 gctggacaga caaccggctg aagtggaatg ctgaagaatt tggaaacatc agtgtcctgc
      361 gcctcccccc ggacatggtg tggctcccag agattgtgct ggagaacaac aatgacggct
      421 ccttccagat ctcctactcc tgcaacgtgc ttgtctacca ctacggcttc gtgtactggc
      481 tgccacctgc catcttccgc tcctcctgcc ccatctctgt cacctatttc cccttcgact
      541 ggcagaactg ctccctcaag ttcagttccc tcaagtatac ggccaaagag atcaccctga
      601 gcctgaaaca ggatgccaag gagaaccgca cctaccccgt ggagtggatc atcattgatc
      661 ctgaaggctt cacagagaac ggggagtggg agatagtcca ccggccggcc agggtcaacg
      721 tggaccccag agcccctctg gacagcccca gccgccagga catcaccttc tacctcatca
      781 tccgccgcaa gcccctcttc tacatcatca acatcctggt gccctgcgtg ctcatctcct
      841 tcatggtcaa cctggtcttc tacctaccgg ctgacagtgg tgagaagaca tcagtggcca
      901 tctcggtgct cctggctcag tctgtcttcc tgctgctcat ctccaagcgt ctgcctgcca
      961 catccatggc catccccctt atcggcaagt tcctgctctt cggcatggtg ctggtcacca
     1021 tggttgtggt gatctgtgtc atcgtgctca acatccactt ccgaacaccc agcacccatg
     1081 tgctgtctga gggggtcaag aagctcttcc tggagaccct gccggagctc ctgcacatgt
     1141 cccgcccagc agaggatgga cccagccctg gggccctggt gcggaggagc agctccctgg
     1201 gatacatctc caaggccgag gagtacttcc tgctcaagtc ccgcagtgac ctcatgttcg
     1261 agaagcagtc agagcggcat gggctggcca ggcgcctcac cactgcacgc cggcccccag
     1321 caagctctga gcaggcccag caggaactct tcaatgagct gaagccagct gtggatgggg
     1381 caaacttcat tgttaaccac atgagggacc agaacaatta caatgaggag aaagacagct
     1441 ggaaccgagt ggcccgcaca gtggaccgcc tctgcctgtt tgtggtgacg cctgtcatgg
     1501 tggtgggcac agcctggatc ttcctgcagg gcgtttacaa ccagccacca ccccagcctt
     1561 ttcctgggga cccctactcc tacaacgtgc aggacaagcg cttcatctag ggtgggcctg
     1621 ttggggagcc aggagacagc agggtctgag agaggagcca cagtccctaa tgacacccac
     1681 tcctagccct gaggctcgtg cccctcagac tggggaagag tccaaggaag ggagggagca
     1741 gccactcctc aatgctcaat ggctcccctg aaatcaagac aggggccacc cgagatggtc
     1801 tgagggtgga catcggctac agtgggtggg caggacgatt tggggggagg cccgaggctg
     1861 gctcaggggc cagggaggag gccactcagg gtggcctcag ggggagagct ctgatagggg
     1921 tgagacagat agggcccctt ctctgcttct cctcccccaa ggtgtggggt agagcaggca
     1981 ggaatctgcg ccttcactct ctggcccctc cagcctccct cttcctacct acccttcaac
     2041 ctcaggcttc tgaggcctca cctgggactg aggttgagga cacctccctc cctccagacc
     2101 ccagagtatc ctttcctagc tctttctgcc ttgacctctc tgcctaggtc cctttgggaa
     2161 gttgaggact ggagtggaaa ggtcaggatc gacatccaca aagacttggg gtcagcctga
     2221 ggttgcacac acaatcctag aggaccagaa cgcagcacct ctccccaaag ggtccctgcc
     2281 ccccagcacc tactcctctc caaattaggg ttgtcatgca ttatttgggg catacatatt
     2341 ctaaaaaatc attcgttgtt tctctgaaat ttgtccccta tttttatttg ctaaatctag
     2401 caaccctatc ccaaaggcag cctccactca atcttatcct gagggccaaa ggccaaggct
     2461 gcaggaattg ggagacaagg gtctgtttgt atggtggtcc acctccaaga tggccccagt
     2521 gatgcccagt attcacaccc ttgtgcagtc ccctcactct gtaccagggt gggtctgggt
     2581 aaccaataga atgaggcaga agtgatggta cctcacttcc cagatttggt taggaaagac
     2641 actatggcct ctttcttgct cattagccct cattctcaca tcagttggat ctctcacttt
     2701 ggggaagcca gctggcatgt taaggagccc tatggagagg cccacatggc aaggaactaa
     2761 ggcctcctgc caacagccac gtgagtgaat gtggaagtgg atcctctgcc ccagtagggc
     2821 cttcggatga gatcacagcc cagtagacat cttatgtgca gccccatgaa agtccctaag
     2881 ccagaaccac cagctaagtg actcctggat tcctgacccc cagaaactgt gtgagataat
     2941 aaatgtgtgt tgttttaagt ga
//
LOCUS       NM_000754               2272 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens catechol-O-methyltransferase (COMT), transcript variant
            1, mRNA.
ACCESSION   NM_000754
VERSION     NM_000754.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2272)
  AUTHORS   Manago F, Scheggia D, Pontillo M, Mereu M, Mastrogiacomo R, Udayan
            G, Valentini P, Tata MC, Weinberger DR, Weickert CS, Pompa PP, De
            Luca MA, Vicari S and Papaleo F.
  TITLE     Dopaminergic signalling and behavioural alterations by Comt-Dtnbp1
            genetic interaction and their clinical relevance
  JOURNAL   Br J Pharmacol 180 (19), 2514-2531 (2023)
   PUBMED   37218669
  REMARK    GeneRIF: Dopaminergic signalling and behavioural alterations by
            Comt-Dtnbp1 genetic interaction and their clinical relevance.
REFERENCE   2  (bases 1 to 2272)
  AUTHORS   Yang M, Baser RE, Khanin R, Autuori I, Li QS, Panageas KS, Orlow I
            and Mao JJ.
  TITLE     COMT Val158Met Affects the Analgesic Response to Acupuncture Among
            Cancer Survivors With Chronic Pain
  JOURNAL   J Pain 24 (9), 1721-1730 (2023)
   PUBMED   37187218
  REMARK    GeneRIF: COMT Val158Met Affects the Analgesic Response to
            Acupuncture Among Cancer Survivors With Chronic Pain.
REFERENCE   3  (bases 1 to 2272)
  AUTHORS   Shen J, Wang Q, Lu F, Xu H, Wang P and Feng Y.
  TITLE     Prognostic and immunomodulatory roles of schizophrenia-associated
            genes HTR2A, COMT, and PRODH in pan-cancer analysis and glioma
            survival prediction model
  JOURNAL   Front Immunol 14, 1201252 (2023)
   PUBMED   37564635
  REMARK    GeneRIF: Prognostic and immunomodulatory roles of
            schizophrenia-associated genes HTR2A, COMT, and PRODH in pan-cancer
            analysis and glioma survival prediction model. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 2272)
  AUTHORS   Sagud M, Tudor L, Nedic Erjavec G, Nikolac Perkovic M, Uzun S,
            Mimica N, Madzarac Z, Zivkovic M, Kozumplik O, Konjevod M, Svob
            Strac D and Pivac N.
  TITLE     Genotypic and Haplotypic Association of Catechol-O-Methyltransferase
            rs4680 and rs4818 Gene Polymorphisms with Particular Clinical
            Symptoms in Schizophrenia
  JOURNAL   Genes (Basel) 14 (7), 1358 (2023)
   PUBMED   37510262
  REMARK    GeneRIF: Genotypic and Haplotypic Association of
            Catechol-O-Methyltransferase rs4680 and rs4818 Gene Polymorphisms
            with Particular Clinical Symptoms in Schizophrenia. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 2272)
  AUTHORS   Mamoun Abdelmageid S, Mousa Alamir F, Yousif Abdelrahman H and
            Mohamed Abushama H.
  TITLE     Association of COMT Val158Met Polymorphism with Fibromyalgia in
            Khartoum State, Sudan
  JOURNAL   Pain Res Manag 2023, 7313578 (2023)
   PUBMED   37305098
  REMARK    GeneRIF: Association of COMT Val158Met Polymorphism with
            Fibromyalgia in Khartoum State, Sudan. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 2272)
  AUTHORS   Grossman MH, Emanuel BS and Budarf ML.
  TITLE     Chromosomal mapping of the human catechol-O-methyltransferase gene
            to 22q11.1----q11.2
  JOURNAL   Genomics 12 (4), 822-825 (1992)
   PUBMED   1572656
REFERENCE   7  (bases 1 to 2272)
  AUTHORS   Ulmanen I and Lundstrom K.
  TITLE     Cell-free synthesis of rat and human catechol O-methyltransferase.
            Insertion of the membrane-bound form into microsomal membranes in
            vitro
  JOURNAL   Eur J Biochem 202 (3), 1013-1020 (1991)
   PUBMED   1765063
REFERENCE   8  (bases 1 to 2272)
  AUTHORS   Lundstrom K, Salminen M, Jalanko A, Savolainen R and Ulmanen I.
  TITLE     Cloning and characterization of human placental
            catechol-O-methyltransferase cDNA
  JOURNAL   DNA Cell Biol 10 (3), 181-189 (1991)
   PUBMED   1707278
REFERENCE   9  (bases 1 to 2272)
  AUTHORS   Bertocci B, Miggiano V, Da Prada M, Dembic Z, Lahm HW and Malherbe
            P.
  TITLE     Human catechol-O-methyltransferase: cloning and expression of the
            membrane-associated form
  JOURNAL   Proc Natl Acad Sci U S A 88 (4), 1416-1420 (1991)
   PUBMED   1847521
REFERENCE   10  (bases 1 to 2272)
  AUTHORS   Schultz E.
  TITLE     Catechol-O-methyltransferase and aromatic L-amino acid decarboxylase
            activities in human gastrointestinal tissues
  JOURNAL   Life Sci 49 (10), 721-725 (1991)
   PUBMED   1875781
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.817540.1,
            SRR14038192.1640489.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000361682.11/ ENSP00000354511.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX461394.2, AK290440.1 and
            AC005663.2.
            On Aug 31, 2019 this sequence version replaced NM_000754.3.
            Summary: Catechol-O-methyltransferase catalyzes the transfer of a
            methyl group from S-adenosylmethionine to catecholamines, including
            the neurotransmitters dopamine, epinephrine, and norepinephrine.
            This O-methylation results in one of the major degradative pathways
            of the catecholamine transmitters. In addition to its role in the
            metabolism of endogenous substances, COMT is important in the
            metabolism of catechol drugs used in the treatment of hypertension,
            asthma, and Parkinson disease. COMT is found in two forms in
            tissues, a soluble form (S-COMT) and a membrane-bound form
            (MB-COMT). The differences between S-COMT and MB-COMT reside within
            the N-termini. Several transcript variants are formed through the
            use of alternative translation initiation sites and promoters.
            [provided by RefSeq, Sep 2008].
            Transcript Variant: This variant (1, also known as MB-COMT)
            represents the predominant transcript and encodes the longer
            isoform (MB-COMT). Variants 1, 2, 3, and 5 all encode isoform
            MB-COMT and may also make the shorter isoform S-COMT at a low
            level. MB-COMT is a membrane-bound protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2272
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..2272
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /note="catechol-O-methyltransferase"
                     /db_xref="GeneID:1312"
                     /db_xref="HGNC:HGNC:2228"
                     /db_xref="MIM:116790"
     misc_feature    56..58
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /note="upstream in-frame stop codon"
     CDS             218..1033
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /EC_number="2.1.1.6"
                     /note="isoform MB-COMT is encoded by transcript variant 1;
                     epididymis secretory sperm binding protein Li 98n;
                     testicular tissue protein Li 42"
                     /codon_start=1
                     /product="catechol O-methyltransferase isoform MB-COMT"
                     /protein_id="NP_000745.1"
                     /db_xref="CCDS:CCDS13770.1"
                     /db_xref="GeneID:1312"
                     /db_xref="HGNC:HGNC:2228"
                     /db_xref="MIM:116790"
                     /translation="MPEAPPLLLAAVLLGLVLLVVLLLLLRHWGWGLCLIGWNEFILQP
                     IHNLLMGDTKEQRILNHVLQHAEPGNAQSVLEAIDTYCEQKEWAMNVGDKKGKIVDAVI
                     QEHQPSVLLELGAYCGYSAVRMARLLSPGARLITIEINPDCAAITQRMVDFAGVKDKVT
                     LVVGASQDIIPQLKKKYDVDTLDMVFLDHWKDRYLPDTLLLEECGLLRKGTVLLADNVI
                     CPGAPDFLAHVRGSSCFECTHYQSFLEYREVVDGLEKAIYKGPGSEAGP"
     misc_feature    236..295
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /note="propagated from UniProtKB/Swiss-Prot (P21964.2);
                     transmembrane region"
     misc_feature    1016..1018
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P22734; propagated from
                     UniProtKB/Swiss-Prot (P21964.2); phosphorylation site"
     regulatory      1293..1298
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /note="hexamer: AATAGA"
     polyA_site      1313
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
                     /note="major polyA site"
     polyA_site      2231
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
     polyA_site      2249
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
     polyA_site      2272
                     /gene="COMT"
                     /gene_synonym="HEL-S-98n"
ORIGIN
        1 aatccccgca gcgccaccgc cattgccgcc atcgtcgtgg ggcttctggg gcagctaggg
       61 ctgcccgccg cgctgcctgc gccggaccgg ggcgggtcca gtcccgggcg ggccgtcgcg
      121 ggagagaaat aacatctgct ttgctgccga gctcagagga gaccccagac ccctcccgca
      181 gccagagggc tggagcctgc tcagaggtgc tttgaagatg ccggaggccc cgcctctgct
      241 gttggcagct gtgttgctgg gcctggtgct gctggtggtg ctgctgctgc ttctgaggca
      301 ctggggctgg ggcctgtgcc ttatcggctg gaacgagttc atcctgcagc ccatccacaa
      361 cctgctcatg ggtgacacca aggagcagcg catcctgaac cacgtgctgc agcatgcgga
      421 gcccgggaac gcacagagcg tgctggaggc cattgacacc tactgcgagc agaaggagtg
      481 ggccatgaac gtgggcgaca agaaaggcaa gatcgtggac gccgtgattc aggagcacca
      541 gccctccgtg ctgctggagc tgggggccta ctgtggctac tcagctgtgc gcatggcccg
      601 cctgctgtca ccaggggcga ggctcatcac catcgagatc aaccccgact gtgccgccat
      661 cacccagcgg atggtggatt tcgctggcgt gaaggacaag gtcacccttg tggttggagc
      721 gtcccaggac atcatccccc agctgaagaa gaagtatgat gtggacacac tggacatggt
      781 cttcctcgac cactggaagg accggtacct gccggacacg cttctcttgg aggaatgtgg
      841 cctgctgcgg aaggggacag tgctactggc tgacaacgtg atctgcccag gtgcgccaga
      901 cttcctagca cacgtgcgcg ggagcagctg ctttgagtgc acacactacc aatcgttcct
      961 ggaatacagg gaggtggtgg acggcctgga gaaggccatc tacaagggcc caggcagcga
     1021 agcagggccc tgactgcccc cccggccccc ctctcgggct ctctcaccca gcctggtact
     1081 gaaggtgcca gacgtgctcc tgctgacctt ctgcggctcc gggctgtgtc ctaaatgcaa
     1141 agcacacctc ggccgaggcc tgcgccctga catgctaacc tctctgaact gcaacactgg
     1201 attgttcttt tttaagactc aatcatgact tctttactaa cactggctag ctatattatc
     1261 ttatatacta atatcatgtt ttaaaaatat aaaatagaaa ttaagaatct aaatatttag
     1321 atataactcg acttagtaca tccttctcaa ctgccattcc cctgctgccc ttgacttggg
     1381 caccaaacat tcaaagctcc ccttgacgga cgctaacgct aagggcgggg cccctagctg
     1441 gctgggttct gggtggcacg cctggcccac tggcctccca gccacagtgg tgcagaggtc
     1501 agccctcctg cagctaggcc aggggcacct gttagcccca tggggacgac tgccggcctg
     1561 ggaaacgaag aggagtcagc cagcattcac acctttctga ccaagcaggc gctggggaca
     1621 ggtggacccc gcagcagcac cagcccctct gggccccatg tggcacagag tggaagcatc
     1681 tccttcccta ctccccactg ggccttgctt acagaagagg caatggctca gaccagctcc
     1741 cgcatccctg tagttgcctc cctggcccat gagtgaggat gcagtgctgg tttctgccca
     1801 cctacaccta gagctgtccc catctcctcc aaggggtcag actgctagcc acctcagagg
     1861 ctccaagggc ccagttccca ggcccaggac aggaatcaac cctgtgctag ctgagttcac
     1921 ctgcaccgag accagcccct agccaagatt ctactcctgg gctcaaggcc tggctagccc
     1981 ccagccagcc cactcctatg gatagacaga ccagtgagcc caagtggaca agtttggggc
     2041 cacccaggga ccagaaacag agcctctgca ggacacagca gatgggcacc tgggaccacc
     2101 tccacccagg gccctgcccc agacgcgcag aggcccgaca caagggagaa gccagccact
     2161 tgtgccagac ctgagtggca gaaagcaaaa agttcctttg ctgctttaat ttttaaattt
     2221 tcttacaaaa atttaggtgt ttaccaatag tcttattttg gcttattttt aa
//
LOCUS       NM_000755               2768 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens carnitine O-acetyltransferase (CRAT), transcript
            variant 1, mRNA.
ACCESSION   NM_000755
VERSION     NM_000755.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2768)
  AUTHORS   Mancilla RF, Lindeboom L, Grevendonk L, Hoeks J, Koves TR, Muoio DM,
            Schrauwen P, Schrauwen-Hinderling V and Hesselink MK.
  TITLE     Skeletal muscle mitochondrial inertia is associated with carnitine
            acetyltransferase activity and physical function in humans
  JOURNAL   JCI Insight 8 (1), e163855 (2023)
   PUBMED   36413408
  REMARK    GeneRIF: Skeletal muscle mitochondrial inertia is associated with
            carnitine acetyltransferase activity and physical function in
            humans. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2768)
  AUTHORS   Laera L, Punzi G, Porcelli V, Gambacorta N, Trisolini L, Pierri CL
            and De Grassi A.
  TITLE     CRAT missense variants cause abnormal carnitine acetyltransferase
            function in an early-onset case of Leigh syndrome
  JOURNAL   Hum Mutat 41 (1), 110-114 (2020)
   PUBMED   31448845
  REMARK    GeneRIF: CRAT missense variants cause abnormal carnitine
            acetyltransferase function in an early-onset case of Leigh syndrome.
REFERENCE   3  (bases 1 to 2768)
  AUTHORS   Valentino A, Calarco A, Di Salle A, Finicelli M, Crispi S, Calogero
            RA, Riccardo F, Sciarra A, Gentilucci A, Galderisi U, Margarucci S
            and Peluso G.
  TITLE     Deregulation of MicroRNAs mediated control of carnitine cycle in
            prostate cancer: molecular basis and pathophysiological consequences
  JOURNAL   Oncogene 36 (43), 6030-6040 (2017)
   PUBMED   28671672
  REMARK    GeneRIF: We provide evidence that the downregulation of
            hsa-miR-124-3p, hsa-miR-129-5p and hsa-miR-378 induced an increase
            in both expression and activity of CPT1A, CACT and CrAT in malignant
            prostate cells.
REFERENCE   4  (bases 1 to 2768)
  AUTHORS   Seiler SE, Koves TR, Gooding JR, Wong KE, Stevens RD, Ilkayeva OR,
            Wittmann AH, DeBalsi KL, Davies MN, Lindeboom L, Schrauwen P,
            Schrauwen-Hinderling VB and Muoio DM.
  TITLE     Carnitine Acetyltransferase Mitigates Metabolic Inertia and Muscle
            Fatigue during Exercise
  JOURNAL   Cell Metab 22 (1), 65-76 (2015)
   PUBMED   26154055
REFERENCE   5  (bases 1 to 2768)
  AUTHORS   Zammit VA, Ramsay RR, Bonomini M and Arduini A.
  TITLE     Carnitine, mitochondrial function and therapy
  JOURNAL   Adv Drug Deliv Rev 61 (14), 1353-1362 (2009)
   PUBMED   19716391
  REMARK    Review article
REFERENCE   6  (bases 1 to 2768)
  AUTHORS   Corti O, DiDonato S and Finocchiaro G.
  TITLE     Divergent sequences in the 5' region of cDNA suggest alternative
            splicing as a mechanism for the generation of carnitine
            acetyltransferases with different subcellular localizations
  JOURNAL   Biochem J 303 (Pt 1) (Pt 1), 37-41 (1994)
   PUBMED   7945262
REFERENCE   7  (bases 1 to 2768)
  AUTHORS   Corti O, Finocchiaro G, Rossi E, Zuffardi O and DiDonato S.
  TITLE     Molecular cloning of cDNAs encoding human carnitine
            acetyltransferase and mapping of the corresponding gene to
            chromosome 9q34.1
  JOURNAL   Genomics 23 (1), 94-99 (1994)
   PUBMED   7829107
REFERENCE   8  (bases 1 to 2768)
  AUTHORS   Ramsay RR and Arduini A.
  TITLE     The carnitine acyltransferases and their role in modulating acyl-CoA
            pools
  JOURNAL   Arch Biochem Biophys 302 (2), 307-314 (1993)
   PUBMED   8489235
  REMARK    Review article
REFERENCE   9  (bases 1 to 2768)
  AUTHORS   Kalaria RN and Harik SI.
  TITLE     Carnitine acetyltransferase activity in the human brain and its
            microvessels is decreased in Alzheimer's disease
  JOURNAL   Ann Neurol 32 (4), 583-586 (1992)
   PUBMED   1456745
REFERENCE   10  (bases 1 to 2768)
  AUTHORS   Bloisi W, Colombo I, Garavaglia B, Giardini R, Finocchiaro G and
            Didonato S.
  TITLE     Purification and properties of carnitine acetyltransferase from
            human liver
  JOURNAL   Eur J Biochem 189 (3), 539-546 (1990)
   PUBMED   2351134
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.220366.1,
            SRR1803617.210844.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000318080.7/ ENSP00000315013.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL158151.16.
            On Nov 22, 2018 this sequence version replaced NM_000755.4.
            Summary: This gene encodes carnitine O-acetyltransferase, a member
            of the carnitine acyltransferase family and a key metabolic pathway
            enzyme which plays an important role in energy homeostasis and fat
            metabolism. This enzyme catalyzes the reversible transfer of acyl
            groups from an acyl-CoA thioester to carnitine and regulates the
            ratio of acyl-CoA/CoA. It is found in both the mitochondria and the
            peroxisome. Alternative splicing results in transcript variants
            encoding different isoforms that may localize to different
            subcellular compartments. [provided by RefSeq, Oct 2016].
            Transcript Variant: This variant (1) encodes isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2768
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..2768
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /note="carnitine O-acetyltransferase"
                     /db_xref="GeneID:1384"
                     /db_xref="HGNC:HGNC:2342"
                     /db_xref="MIM:600184"
     misc_feature    186..188
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /note="upstream in-frame stop codon"
     CDS             285..2165
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /EC_number="2.3.1.7"
                     /EC_number="2.3.1.137"
                     /note="isoform 1 is encoded by transcript variant 1;
                     carnitine acetylase"
                     /codon_start=1
                     /product="carnitine O-acetyltransferase isoform 1"
                     /protein_id="NP_000746.3"
                     /db_xref="CCDS:CCDS6919.1"
                     /db_xref="GeneID:1384"
                     /db_xref="HGNC:HGNC:2342"
                     /db_xref="MIM:600184"
                     /translation="MLAFAARTVVKPLGFLKPFSLMKASSRFKAHQDALPRLPVPPLQQ
                     SLDHYLKALQPIVSEEEWAHTKQLVDEFQASGGVGERLQKGLERRARKTENWLSEWWLK
                     TAYLQYRQPVVIYSSPGVMLPKQDFVDLQGQLRFAAKLIEGVLDFKVMIDNETLPVEYL
                     GGKPLCMNQYYQILSSCRVPGPKQDTVSNFSKTKKPPTHITVVHNYQFFELDVYHSDGT
                     PLTADQIFVQLEKIWNSSLQTNKEPVGILTSNHRNSWAKAYNTLIKDKVNRDSVRSIQK
                     SIFTVCLDATMPRVSEDVYRSHVAGQMLHGGGSRLNSGNRWFDKTLQFIVAEDGSCGLV
                     YEHAAAEGPPIVTLLDYVIEYTKKPELVRSPLVPLPMPKKLRFNITPEIKSDIEKAKQN
                     LSIMIQDLDITVMVFHHFGKDFPKSEKLSPDAFIQMALQLAYYRIYGQACATYESASLR
                     MFHLGRTDTIRSASMDSLTFVKAMDDSSVTEHQKVELLRKAVQAHRGYTDRAIRGEAFD
                     RHLLGLKLQAIEDLVSMPDIFMDTSYAIAMHFHLSTSQVPAKTDCVMFFGPVVPDGYGV
                     CYNPMEAHINFSLSAYNSCAETNAARLAHYLEKALLDMRALLQSHPRAKL"
     misc_feature    1065..1067
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P43155.5); acetylation site"
     misc_feature    1086..1088
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P43155.5); acetylation site"
     misc_feature    2154..2162
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /note="propagated from UniProtKB/Swiss-Prot (P43155.5);
                     Region: Microbody targeting signal. /evidence=ECO:0000255"
     regulatory      2744..2749
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /note="hexamer: AATAAA"
     polyA_site      2768
                     /gene="CRAT"
                     /gene_synonym="CAT; CAT1; NBIA8"
                     /note="major polyA site"
ORIGIN
        1 gtccccgccc cacagccaac ctcccgggca ccgttgcccg cccggggccc gctaccggcc
       61 caggccccgc ctcgcgagtc ctcctccccg ggtgccttcc cgcagcccgc tcggcccaga
      121 gggtgggcgc ggggctgcct ctaccggctg gcggctgtaa ctcagcgacc ttggcccgaa
      181 ggctctagca aggacccacc gaccccagcc gcggcggcgg cggcgcggac tttgcccggt
      241 gtgtggggcg gagcggactg cgtgtccgcg gacgggcagc gaagatgtta gccttcgctg
      301 ccaggaccgt ggtgaagcct ctgggcttcc tgaagccctt ctccttgatg aaggcttcca
      361 gccgcttcaa ggcacaccag gatgcactgc cacggctgcc cgtgccccct ctccagcagt
      421 ccctggacca ctacctgaag gcgctgcagc ccatcgtgag tgaggaggag tgggcccaca
      481 ccaagcagct ggtggatgag tttcaggcct caggaggtgt aggggagcgc ctgcagaagg
      541 ggctggagcg tcgggccagg aagacggaga actggctgtc tgagtggtgg ctcaagaccg
      601 cctacctcca gtaccgccag cctgtggtca tctactcgag cccaggcgtg atgctaccca
      661 agcaggactt cgtggacctg cagggtcagc tccgatttgc tgccaaactc attgagggtg
      721 tgttggattt caaggtcatg attgacaacg agaccctgcc cgtggagtac ctggggggga
      781 agccactgtg catgaaccag tactatcaga tcttgtcctc ctgccgagtg ccgggcccca
      841 agcaggacac agtcagcaac ttcagcaaga ccaagaagcc tcccacgcac atcaccgtgg
      901 tacacaacta ccagtttttt gagctggatg tgtaccacag tgacgggaca cccctcactg
      961 cggatcagat ctttgtgcag ctggagaaga tctggaactc atccctacag accaacaagg
     1021 agcctgtggg catcctcacc tccaaccacc gcaactcctg ggccaaggca tacaacaccc
     1081 tcatcaaaga caaggtgaac cgggattccg tgcgctccat ccagaagagc atcttcaccg
     1141 tgtgcctaga tgcaaccatg cccagggtct cagaagacgt gtaccgcagc cacgtggcag
     1201 gccagatgct gcatgggggc ggcagcaggc tcaacagcgg caaccgctgg ttcgacaaga
     1261 cgctgcagtt catcgtggca gaagatggct cctgtgggct tgtgtacgag catgctgcag
     1321 cggaggggcc ccctattgtc acccttctgg actatgtcat cgagtacacg aagaaacccg
     1381 agcttgtgcg gtctcccctg gtgcccctgc ccatgcccaa gaagctgcgg ttcaacatca
     1441 cccccgagat caagagcgac atcgagaagg ccaagcagaa cctcagcatc atgatccagg
     1501 acctggatat caccgtgatg gtgttccacc attttggaaa agacttcccc aagtcggaga
     1561 agctaagccc agatgccttc atccagatgg ctttgcagct ggcctactac aggatctacg
     1621 gacaggcatg tgccacctat gaaagtgcct ccctgcgcat gtttcacctg ggccgcaccg
     1681 acaccatccg ctcggcttcc atggactcac tcacctttgt caaggccatg gatgactcca
     1741 gcgtcacgga gcaccagaag gtggagctgc tgcggaaggc cgtgcaggcc caccgaggct
     1801 acaccgaccg ggccatccgc ggggaggcct ttgatcgaca cctgctgggc ctgaagctgc
     1861 aggccatcga ggacctggtg agcatgcccg acatcttcat ggacacctcc tacgccatcg
     1921 ccatgcactt ccacctctcc accagccagg tccctgccaa gacagactgt gtcatgttct
     1981 tcgggcccgt ggtccccgac ggctacggtg tctgctataa ccccatggag gcccacatca
     2041 acttctccct gtcggcctac aacagctgcg cggagaccaa cgccgcccgc ctggcgcatt
     2101 acctggagaa ggcgctcctg gacatgcgtg ccctgctgca gagccacccc cgggccaagc
     2161 tctgagcccc taggactcag gcctgccaat gccacagcca agcccaccct gggatgggcc
     2221 acccaccagg gctcagctcc ttggttccct cttccttggt tccctcttcc ctggtccccc
     2281 caaatctact gagccacgga ccgcatcctc cagggggcct gcaggcccca gccaagtgcc
     2341 ttccgtgggt catcccagca cctgccaggg cccgacctgg ggctgagtgc agaggctgag
     2401 caggacgtta ggcccgggcc cctggcacgt cctccaccgg tgcctcctct ggggaaggga
     2461 accagccctc cagagcagga gactggcaag agctctttgt ctcaccagct cagccccggc
     2521 cactccctgc caactccatg accaggccac catctgtacc ctgcttccca aactcccagg
     2581 acctggagac aggattgtct ggggccgagg ggccagggtg tgaggtttca cctccgttgc
     2641 ggctgtgctc ctgtggataa cattgctagc gagccgcctc tggttccact cagcttggtt
     2701 cctgcccccg ccctgctgta tgatattaat gtggaaggtc atcaataaag gggaattgtg
     2761 ttggtgaa
//
LOCUS       NM_000756               1288 bp    mRNA    linear   PRI 18-JUL-2023
DEFINITION  Homo sapiens corticotropin releasing hormone (CRH), mRNA.
ACCESSION   NM_000756
VERSION     NM_000756.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1288)
  AUTHORS   Qing L, Xiong P, Lu Y, Jiang H and Nie S.
  TITLE     Sex-dependent association of DNA methylation in the coding region of
            the corticotropin-releasing hormone gene and schizophrenia spectrum
            disorder
  JOURNAL   Ann Hum Biol 50 (1), 1-8 (2023)
   PUBMED   37401376
  REMARK    GeneRIF: Sex-dependent association of DNA methylation in the coding
            region of the corticotropin-releasing hormone gene and schizophrenia
            spectrum disorder.
REFERENCE   2  (bases 1 to 1288)
  AUTHORS   Guo L, Qi YJ, Tan H, Dai D, Balesar R, Sluiter A, van Heerikhuize J,
            Hu SH, Swaab DF and Bao AM.
  TITLE     Different oxytocin and corticotropin-releasing hormone system
            changes in bipolar disorder and major depressive disorder patients
  JOURNAL   EBioMedicine 84, 104266 (2022)
   PUBMED   36126617
  REMARK    GeneRIF: Different oxytocin and corticotropin-releasing hormone
            system changes in bipolar disorder and major depressive disorder
            patients.
REFERENCE   3  (bases 1 to 1288)
  AUTHORS   Jin EZ, Li TQ, Ren C, Zhu L, Du W, Qu JF, Yao YO, Li XX, Zhou P,
            Huang LZ and Zhao MW.
  TITLE     An Insertion Variant in CRH Confers an Increased Risk of Central
            Serous Chorioretinopathy
  JOURNAL   Invest Ophthalmol Vis Sci 63 (9), 9 (2022)
   PUBMED   35938903
  REMARK    GeneRIF: An Insertion Variant in CRH Confers an Increased Risk of
            Central Serous Chorioretinopathy. Erratum:[Invest Ophthalmol Vis
            Sci. 2022 Oct 3;63(11):17. PMID: 36264657]
REFERENCE   4  (bases 1 to 1288)
  AUTHORS   Contoreggi C.
  TITLE     Corticotropin releasing hormone and imaging, rethinking the stress
            axis
  JOURNAL   Nucl Med Biol 42 (4), 323-339 (2015)
   PUBMED   25573209
  REMARK    Review article
REFERENCE   5  (bases 1 to 1288)
  AUTHORS   Kurahashi,H. and Hirose,S.
  TITLE     Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301348
REFERENCE   6  (bases 1 to 1288)
  AUTHORS   Vamvakopoulos NC, Karl M, Mayol V, Gomez T, Stratakis CA, Margioris
            A and Chrousos GP.
  TITLE     Structural analysis of the regulatory region of the human
            corticotropin releasing hormone gene
  JOURNAL   FEBS Lett 267 (1), 1-5 (1990)
   PUBMED   2365075
REFERENCE   7  (bases 1 to 1288)
  AUTHORS   Robinson BG, D'Angio LA Jr, Pasieka KB and Majzoub JA.
  TITLE     Preprocorticotropin releasing hormone: cDNA sequence and in vitro
            processing
  JOURNAL   Mol Cell Endocrinol 61 (2), 175-180 (1989)
   PUBMED   2783917
REFERENCE   8  (bases 1 to 1288)
  AUTHORS   Sasaki A, Tempst P, Liotta AS, Margioris AN, Hood LE, Kent SB, Sato
            S, Shinkawa O, Yoshinaga K and Krieger DT.
  TITLE     Isolation and characterization of a corticotropin-releasing
            hormone-like peptide from human placenta
  JOURNAL   J Clin Endocrinol Metab 67 (4), 768-773 (1988)
   PUBMED   3262120
REFERENCE   9  (bases 1 to 1288)
  AUTHORS   Arbiser JL, Morton CC, Bruns GA and Majzoub JA.
  TITLE     Human corticotropin releasing hormone gene is located on the long
            arm of chromosome 8
  JOURNAL   Cytogenet Cell Genet 47 (3), 113-116 (1988)
   PUBMED   3259914
REFERENCE   10  (bases 1 to 1288)
  AUTHORS   Shibahara,S., Morimoto,Y., Furutani,Y., Notake,M., Takahashi,H.,
            Shimizu,S., Horikawa,S. and Numa,S.
  TITLE     Isolation and sequence analysis of the human corticotropin-releasing
            factor precursor gene
  JOURNAL   EMBO J 2 (5), 775-779 (1983)
   PUBMED   6605851
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BG573303.1, AK075431.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000276571.5/ ENSP00000276571.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK075431.1 and AC090195.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000756.3.
            Summary: This gene encodes a member of the corticotropin-releasing
            factor family. The encoded preproprotein is proteolytically
            processed to generate the mature neuropeptide hormone. In response
            to stress, this hormone is secreted by the paraventricular nucleus
            (PVN) of the hypothalamus, binds to corticotropin releasing hormone
            receptors and stimulates the release of adrenocorticotropic hormone
            from the pituitary gland. Marked reduction in this protein has been
            observed in association with Alzheimer's disease. Autosomal
            recessive hypothalamic corticotropin deficiency has multiple and
            potentially fatal metabolic consequences including hypoglycemia and
            hepatitis. In addition to production in the hypothalamus, this
            protein is also synthesized in peripheral tissues, such as T
            lymphocytes, and is highly expressed in the placenta. In the
            placenta it is a marker that determines the length of gestation and
            the timing of parturition and delivery. A rapid increase in
            circulating levels of the hormone occurs at the onset of
            parturition, suggesting that, in addition to its metabolic
            functions, this protein may act as a trigger for parturition.
            [provided by RefSeq, Nov 2015].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1288
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q13.1"
     gene            1..1288
                     /gene="CRH"
                     /gene_synonym="CRF; CRH1"
                     /note="corticotropin releasing hormone"
                     /db_xref="GeneID:1392"
                     /db_xref="HGNC:HGNC:2355"
                     /db_xref="MIM:122560"
     misc_feature    76..78
                     /gene="CRH"
                     /gene_synonym="CRF; CRH1"
                     /note="upstream in-frame stop codon"
     CDS             187..777
                     /gene="CRH"
                     /gene_synonym="CRF; CRH1"
                     /note="corticotropin-releasing factor; corticoliberin"
                     /codon_start=1
                     /product="corticoliberin preproprotein"
                     /protein_id="NP_000747.1"
                     /db_xref="CCDS:CCDS6188.1"
                     /db_xref="GeneID:1392"
                     /db_xref="HGNC:HGNC:2355"
                     /db_xref="MIM:122560"
                     /translation="MRLPLLVSAGVLLVALLPCPPCRALLSRGPVPGARQAPQHPQPLD
                     FFQPPPQSEQPQQPQARPVLLRMGEEYFLRLGNLNKSPAAPLSPASSLLAGGSGSRPSP
                     EQATANFFRVLLQQLLLPRRSLDSPAALAERGARNALGGHQEAPERERRSEEPPISLDL
                     TFHLLREVLEMARAEQLAQQAHSNRKLMEIIGK"
     sig_peptide     187..258
                     /gene="CRH"
                     /gene_synonym="CRF; CRH1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    280..369
                     /gene="CRH"
                     /gene_synonym="CRF; CRH1"
                     /note="propagated from UniProtKB/Swiss-Prot (P06850.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    439..501
                     /gene="CRH"
                     /gene_synonym="CRF; CRH1"
                     /note="propagated from UniProtKB/Swiss-Prot (P06850.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    592..660
                     /gene="CRH"
                     /gene_synonym="CRF; CRH1"
                     /note="propagated from UniProtKB/Swiss-Prot (P06850.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     646..768
                     /gene="CRH"
                     /gene_synonym="CRF; CRH1"
                     /product="Corticoliberin. /id=PRO_0000006213"
                     /note="propagated from UniProtKB/Swiss-Prot (P06850.1)"
     misc_feature    766..768
                     /gene="CRH"
                     /gene_synonym="CRF; CRH1"
                     /note="Isoleucine amide.
                     /evidence=ECO:0000269|PubMed:6605851; propagated from
                     UniProtKB/Swiss-Prot (P06850.1); amidation site"
     regulatory      1196..1201
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRH"
                     /gene_synonym="CRF; CRH1"
                     /note="hexamer: AATAAA"
     polyA_site      1215
                     /gene="CRH"
                     /gene_synonym="CRF; CRH1"
                     /note="major polyA site"
     regulatory      1263..1268
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRH"
                     /gene_synonym="CRF; CRH1"
                     /note="hexamer: AATAAA"
     polyA_site      1288
                     /gene="CRH"
                     /gene_synonym="CRF; CRH1"
                     /note="major polyA site"
ORIGIN
        1 gagaaactca gagaccaagt ccattgagag actgagggga aagagaggag agaaagaaaa
       61 agagagtggg aacagtaaag agaaaggaag acaacctcca gagaaagccc ccggagacgt
      121 ctctctgcag agaggcggca gcacccggct cacctgcgaa gcgcctggga agcgagtgcc
      181 cctaacatgc ggctgccgct gcttgtgtcc gcgggagtcc tgctggtggc tctcctgccc
      241 tgcccgccat gcagggcgct cctgagccgc gggccggtcc cgggagctcg gcaggcgccg
      301 cagcaccctc agcccttgga tttcttccag ccgccgccgc agtccgagca gccccagcag
      361 ccgcaggctc ggccggtcct gctccgcatg ggagaggagt acttcctccg cctggggaac
      421 ctcaacaaga gcccggccgc tcccctttcg cccgcctcct cgctcctcgc cggaggcagc
      481 ggcagccgcc cttcgccgga acaggcgacc gccaactttt tccgcgtgtt gctgcagcag
      541 ctgctgctgc ctcggcgctc gctcgacagc cccgcggctc tcgcggagcg cggcgctagg
      601 aatgccctcg gcggccacca ggaggcaccg gagagagaaa ggcggtccga ggagcctccc
      661 atctccctgg atctcacctt ccacctcctc cgggaagtct tggaaatggc cagggccgag
      721 cagttagcac agcaagctca cagcaacagg aaactcatgg agattattgg gaaataaaac
      781 ggtgcgtttg gccaaaaaga atctgcattt agcacaaaaa aaatttaaaa aaatacagta
      841 ttctgtacca tagcgctgct cttatgccat ttgtttattt ttatatagct tgaaacatag
      901 agggagagag ggagagagcc tatacccctt acttagcatg cacaaagtgt attcacgtgc
      961 agcagcaaca caatgttatt cgttttgtct acgtttagtt tccgtttcca ggtgtttata
     1021 gtggtgtttt aaagagaatg tagacctgtg agaaaacgtt ttgtttgaaa aagcagacag
     1081 aagtcactca attgtttttg ttgtggtctg agccaaagag aatgccattc tcttgggtgg
     1141 gtaagactaa atctgtaagc tctttgaaac aactttctct tgtaaacgtt tcagtaataa
     1201 aacatctttc cagtccttgg tcagtttggt tgtgtaagag aatgttgaat acttatattt
     1261 ttaataaaag ttgcaaaggt aatcatga
//
LOCUS       NM_000757               3994 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens colony stimulating factor 1 (CSF1), transcript variant
            1, mRNA.
ACCESSION   NM_000757
VERSION     NM_000757.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3994)
  AUTHORS   Liu Q, Yang T, Zhang Y, Hu ZD, Liu YM, Luo YL, Liu SX, Zhang H and
            Zhong Q.
  TITLE     ZIC2 induces pro-tumor macrophage polarization in nasopharyngeal
            carcinoma by activating the JUNB/MCSF axis
  JOURNAL   Cell Death Dis 14 (7), 455 (2023)
   PUBMED   37479694
  REMARK    GeneRIF: ZIC2 induces pro-tumor macrophage polarization in
            nasopharyngeal carcinoma by activating the JUNB/MCSF axis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3994)
  AUTHORS   Du L, Tang L, Xiao L, Tang K, Zeng Z, Liang Y and Guo Y.
  TITLE     Increased expression of CSF1 in patients with eosinophilic asthma
  JOURNAL   Immun Inflamm Dis 11 (5), e847 (2023)
   PUBMED   37249291
  REMARK    GeneRIF: Increased expression of CSF1 in patients with eosinophilic
            asthma.
REFERENCE   3  (bases 1 to 3994)
  AUTHORS   Xiang T, Cheng N, Huang B, Zhang X and Zeng P.
  TITLE     Important oncogenic and immunogenic roles of SPP1 and CSF1 in
            hepatocellular carcinoma
  JOURNAL   Med Oncol 40 (6), 158 (2023)
   PUBMED   37097499
  REMARK    GeneRIF: Important oncogenic and immunogenic roles of SPP1 and CSF1
            in hepatocellular carcinoma. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3994)
  AUTHORS   Yamanishi K, Yasuda S, Masui Y, Nishida T, Shindo Y, Takano M,
            Ohmoto Y, Takahashi M and Adachi M.
  TITLE     The structure of recombinant human carboxy-terminal-truncated
            macrophage colony-stimulating factor derived from mammalian cells
  JOURNAL   J Biochem 114 (2), 255-262 (1993)
   PUBMED   8262907
REFERENCE   5  (bases 1 to 3994)
  AUTHORS   Pandit J, Bohm A, Jancarik J, Halenbeck R, Koths K and Kim SH.
  TITLE     Three-dimensional structure of dimeric human recombinant macrophage
            colony-stimulating factor
  JOURNAL   Science 258 (5086), 1358-1362 (1992)
   PUBMED   1455231
REFERENCE   6  (bases 1 to 3994)
  AUTHORS   Suzu S, Ohtsuki T, Yanai N, Takatsu Z, Kawashima T, Takaku F, Nagata
            N and Motoyoshi K.
  TITLE     Identification of a high molecular weight macrophage
            colony-stimulating factor as a glycosaminoglycan-containing species
  JOURNAL   J Biol Chem 267 (7), 4345-4348 (1992)
   PUBMED   1531650
REFERENCE   7  (bases 1 to 3994)
  AUTHORS   Saltman DL, Dolganov GM, Hinton LM and Lovett M.
  TITLE     Reassignment of the human macrophage colony stimulating factor gene
            to chromosome 1p13-21
  JOURNAL   Biochem Biophys Res Commun 182 (3), 1139-1143 (1992)
   PUBMED   1540160
REFERENCE   8  (bases 1 to 3994)
  AUTHORS   Sakai N, Umeda T, Suzuki H, Ishimatsu Y and Shikita M.
  TITLE     Macrophage colony-stimulating factor purified from normal human
            urine. Amino-terminal sequence and amino acid composition
  JOURNAL   FEBS Lett 222 (2), 341-344 (1987)
   PUBMED   3498652
REFERENCE   9  (bases 1 to 3994)
  AUTHORS   Ladner MB, Martin GA, Noble JA, Nikoloff DM, Tal R, Kawasaki ES and
            White TJ.
  TITLE     Human CSF-1: gene structure and alternative splicing of mRNA
            precursors
  JOURNAL   EMBO J 6 (9), 2693-2698 (1987)
   PUBMED   3500041
REFERENCE   10  (bases 1 to 3994)
  AUTHORS   Kawasaki,E.S., Ladner,M.B., Wang,A.M., Van Arsdell,J., Warren,M.K.,
            Coyne,M.Y., Schweickart,V.L., Lee,M.T., Wilson,K.J., Boosman,A. et
            al.
  TITLE     Molecular cloning of a complementary DNA encoding human
            macrophage-specific colony-stimulating factor (CSF-1)
  JOURNAL   Science 230 (4723), 291-296 (1985)
   PUBMED   2996129
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853564.1540.1, AK291660.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000329608.11/ ENSP00000327513.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL450468.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 24, 2018 this sequence version replaced NM_000757.5.
            Summary: The protein encoded by this gene is a cytokine that
            controls the production, differentiation, and function of
            macrophages. The active form of the protein is found
            extracellularly as a disulfide-linked homodimer, and is thought to
            be produced by proteolytic cleavage of membrane-bound precursors.
            The encoded protein may be involved in development of the placenta.
            Alternate splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2011].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            CCDS Note: This CCDS representation uses a downstream in-frame AUG
            start codon, which is supported by homology and publication data.
            The use of the 5'-most in-frame AUG in the transcript would result
            in a 74 aa N-terminal extension, but this N-terminal extension is
            not conserved in other species, and it would eliminate an
            N-terminal signal peptide, which is known to be present based on
            experimental evidence (PMIDs 8262907, 3498652).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3994
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..3994
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /note="colony stimulating factor 1"
                     /db_xref="GeneID:1435"
                     /db_xref="HGNC:HGNC:2432"
                     /db_xref="MIM:120420"
     CDS             176..1840
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /EC_number="2.7.10.1"
                     /note="isoform a precursor is encoded by transcript variant
                     1; lanimostim; colony stimulating factor 1 (macrophage);
                     macrophage colony stimulating factor 1; CSF1-hERV-LTR71B
                     fusion protein; proteoglycan macrophage colony-stimulating
                     factor"
                     /codon_start=1
                     /product="macrophage colony-stimulating factor 1 isoform a
                     precursor"
                     /protein_id="NP_000748.4"
                     /db_xref="CCDS:CCDS816.1"
                     /db_xref="GeneID:1435"
                     /db_xref="HGNC:HGNC:2432"
                     /db_xref="MIM:120420"
                     /translation="MTAPGAAGRCPPTTWLGSLLLLVCLLASRSITEEVSEYCSHMIGS
                     GHLQSLQRLIDSQMETSCQITFEFVDQEQLKDPVCYLKKAFLLVQDIMEDTMRFRDNTP
                     NAIAIVQLQELSLRLKSCFTKDYEEHDKACVRTFYETPLQLLEKVKNVFNETKNLLDKD
                     WNIFSKNCNNSFAECSSQDVVTKPDCNCLYPKAIPSSDPASVSPHQPLAPSMAPVAGLT
                     WEDSEGTEGSSLLPGEQPLHTVDPGSAKQRPPRSTCQSFEPPETPVVKDSTIGGSPQPR
                     PSVGAFNPGMEDILDSAMGTNWVPEEASGEASEIPVPQGTELSPSRPGGGSMQTEPARP
                     SNFLSASSPLPASAKGQQPADVTGTALPRVGPVRPTGQDWNHTPQKTDHPSALLRDPPE
                     PGSPRISSLRPQGLSNPSTLSAQPQLSRSHSSGSVLPLGELEGRRSTRDRRSPAEPEGG
                     PASEGAARPLPRFNSVPLTDTGHERQSEGSFSPQLQESVFHLLVPSVILVLLAVGGLLF
                     YRWRRRSHQEPQRADSPLEQPEGSPLTQDDRQVELPV"
     sig_peptide     176..271
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     272..1837
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /product="Macrophage colony-stimulating factor 1.
                     /id=PRO_0000005857"
                     /note="propagated from UniProtKB/Swiss-Prot (P09603.2)"
     mat_peptide     272..1525
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /product="Processed macrophage colony-stimulating factor 1.
                     /evidence=ECO:0000250|UniProtKB:Q8JZQ0. /id=PRO_0000296231"
                     /note="propagated from UniProtKB/Swiss-Prot (P09603.2)"
     mat_peptide     272..940
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /product="Macrophage colony-stimulating factor 1 43 kDa
                     subunit. /evidence=ECO:0000269|PubMed:8051056.
                     /id=PRO_0000457791"
                     /note="propagated from UniProtKB/Swiss-Prot (P09603.2)"
     misc_feature    635..637
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P09603.2); glycosylation site"
     misc_feature    689..691
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P09603.2); glycosylation site"
     misc_feature    845..1639
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /note="propagated from UniProtKB/Swiss-Prot (P09603.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    971..973
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /note="Phosphothreonine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P09603.2); phosphorylation site"
     misc_feature    1100..1102
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /note="O-linked (Xyl...) (chondroitin sulfate) serine.
                     /evidence=ECO:0000269|PubMed:8051056; propagated from
                     UniProtKB/Swiss-Prot (P09603.2); glycosylation site"
     misc_feature    1262..1264
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:22171320; propagated from
                     UniProtKB/Swiss-Prot (P09603.2); glycosylation site"
     misc_feature    1268..1270
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:22171320; propagated from
                     UniProtKB/Swiss-Prot (P09603.2); glycosylation site"
     misc_feature    1391..1453
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /note="propagated from UniProtKB/Swiss-Prot (P09603.2);
                     Region: O-glycosylated at one site"
     misc_feature    1664..1726
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /note="propagated from UniProtKB/Swiss-Prot (P09603.2);
                     transmembrane region"
     misc_feature    1751..1837
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /note="propagated from UniProtKB/Swiss-Prot (P09603.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3972..3977
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /note="hexamer: AATAAA"
     polyA_site      3994
                     /gene="CSF1"
                     /gene_synonym="CSF-1; MCSF; PG-M-CSF"
                     /note="major polyA site"
ORIGIN
        1 gaggctcggc ccggggaaag tgaaagtttg cctgggtcct ctcggcgcca gagccgctct
       61 ccgcatccca ggacagcggt gcggccctcg gccggggcgc ccactccgca gcagccagcg
      121 agcgagcgag cgagcgaggg cggccgacgc gcccggccgg gacccagctg cccgtatgac
      181 cgcgccgggc gccgccgggc gctgccctcc cacgacatgg ctgggctccc tgctgttgtt
      241 ggtctgtctc ctggcgagca ggagtatcac cgaggaggtg tcggagtact gtagccacat
      301 gattgggagt ggacacctgc agtctctgca gcggctgatt gacagtcaga tggagacctc
      361 gtgccaaatt acatttgagt ttgtagacca ggaacagttg aaagatccag tgtgctacct
      421 taagaaggca tttctcctgg tacaagacat aatggaggac accatgcgct tcagagataa
      481 cacccccaat gccatcgcca ttgtgcagct gcaggaactc tctttgaggc tgaagagctg
      541 cttcaccaag gattatgaag agcatgacaa ggcctgcgtc cgaactttct atgagacacc
      601 tctccagttg ctggagaagg tcaagaatgt ctttaatgaa acaaagaatc tccttgacaa
      661 ggactggaat attttcagca agaactgcaa caacagcttt gctgaatgct ccagccaaga
      721 tgtggtgacc aagcctgatt gcaactgcct gtaccccaaa gccatcccta gcagtgaccc
      781 ggcctctgtc tcccctcatc agcccctcgc cccctccatg gcccctgtgg ctggcttgac
      841 ctgggaggac tctgagggaa ctgagggcag ctccctcttg cctggtgagc agcccctgca
      901 cacagtggat ccaggcagtg ccaagcagcg gccacccagg agcacctgcc agagctttga
      961 gccgccagag accccagttg tcaaggacag caccatcggt ggctcaccac agcctcgccc
     1021 ctctgtcggg gccttcaacc ccgggatgga ggatattctt gactctgcaa tgggcactaa
     1081 ttgggtccca gaagaagcct ctggagaggc cagtgagatt cccgtacccc aagggacaga
     1141 gctttccccc tccaggccag gagggggcag catgcagaca gagcccgcca gacccagcaa
     1201 cttcctctca gcatcttctc cactccctgc atcagcaaag ggccaacagc cggcagatgt
     1261 aactggtacc gccttgccca gggtgggccc cgtgaggccc actggccagg actggaatca
     1321 caccccccag aagacagacc atccatctgc cctgctcaga gaccccccgg agccaggctc
     1381 tcccaggatc tcatcactgc gcccccaggg cctcagcaac ccctccaccc tctctgctca
     1441 gccacagctt tccagaagcc actcctcggg cagcgtgctg ccccttgggg agctggaggg
     1501 caggaggagc accagggatc ggaggagccc cgcagagcca gaaggaggac cagcaagtga
     1561 aggggcagcc aggcccctgc cccgttttaa ctccgttcct ttgactgaca caggccatga
     1621 gaggcagtcc gagggatcct tcagcccgca gctccaggag tctgtcttcc acctgctggt
     1681 gcccagtgtc atcctggtct tgctggccgt cggaggcctc ttgttctaca ggtggaggcg
     1741 gcggagccat caagagcctc agagagcgga ttctcccttg gagcaaccag agggcagccc
     1801 cctgactcag gatgacagac aggtggaact gccagtgtag agggaattct aagctggacg
     1861 cacagaacag tctctccgtg ggaggagaca ttatggggcg tccaccacca cccctccctg
     1921 gccatcctcc tggaatgtgg tctgccctcc accagagctc ctgcctgcca ggactggacc
     1981 agagcagcca ggctggggcc cctctgtctc aacccgcaga cccttgactg aatgagagag
     2041 gccagaggat gctccccatg ctgccactat ttattgtgag ccctggaggc tcccatgtgc
     2101 ttgaggaagg ctggtgagcc cggctcagga ccctcttccc tcaggggctg caccctcctc
     2161 tcactccctt ccatgccgga acccaggcca gggacccacc ggcctgtggt ttgtgggaaa
     2221 gcagggtgga cgctgaggag tgaaagaacc ctgcacccag agggcctgcc tggtgccaag
     2281 gtatcccagc ctggacaggc atggacctgt ctccagagag aggagcctga agttcgtggg
     2341 gcgggacagc gtcggcctga tttcccgtaa aggtgtgcag cctgagagac gggaagagga
     2401 ggcctctgga cctgctggtc tgcactgaca gcctgaaggg tctacaccct cggctcacct
     2461 aagtgccctg tgctggttgc caggcgcaga ggggaggcca gccctgccct caggacctgc
     2521 ctgacctgcc agtgatgcca agagggggat caagcactgg cctctgcccc tcctccttcc
     2581 agcacctgcc agagcttctc caggaggcca agcagaggct cccctcatga aggaagccat
     2641 tgcactgtga acactgtacc tgcctgctga acagcctgcc cccgtccatc catgagccag
     2701 catccgtccg tcctccactc tccagcctct ccccagcctc ctgcactgag ctggcctcac
     2761 cagtcgactg agggagcccc tcagccctga ccttctcctg acctggcctt tgactccccg
     2821 gagtggagtg gggtgggaga acctcctggg ccgccagcca gagccggtct ttaggctgtg
     2881 ttgttcgccc aggtttctgc atcttgcact ttgacattcc caagagggaa gggactagtg
     2941 ggagagagca agggagggga gggcacagac agagaggcta cagggcgagc tctgactgaa
     3001 gatgggcctt tgaaatatag gtatgcacct gaggttgggg gagggtctgc actcccaaac
     3061 cccagcgcag tgtcctttcc ctgctgccga caggaacctg gggctgaaca ggttatccct
     3121 gtcaggagcc ctggactggg ctgcatctca gccccacctg catggtatcc agctcccatc
     3181 cacttctcac ccttctttcc tcctgacctt ggtcagcagt gatgacctcc aactctcacc
     3241 caccccctct accatcacct ctaaccaggc aagccagggt gggagagcaa tcaggagagc
     3301 caggcctcag cttccaatgc ctggagggcc tccactttgt ggccagcctg tggtggtggc
     3361 tctgaggcct aggcaacgag cgacagggct gccagttgcc cctgggttcc tttgtgctgc
     3421 tgtgtgcctc ctctcctgcc gccctttgtc ctccgctaag agaccctgcc ctacctggcc
     3481 gctgggcccc gtgactttcc cttcctgccc aggaaagtga gggtcggctg gccccacctt
     3541 ccctgtcctg atgccgacag cttagggaag ggcagtgaac ttgcatatgg ggcttagcct
     3601 tctagtcaca gcctctatat ttgatgctag aaaacacata tttttaaatg gaagaaaaat
     3661 aaaaaggcat tcccccttca tccccctacc ttaaacatat aatattttaa aggtcaaaaa
     3721 agcaatccaa cccactgcag aagctctttt tgagcacttg gtggcatcag agcaggagga
     3781 gccccagagc cacctctggt gtccccccag gctacctgct caggaacccc ttctgttctc
     3841 tgagaagtca agagaggaca ttggctcacg cactgtgaga ttttgttttt atacttggaa
     3901 gtggtgaatt attttatata aagtcattta aatatctatt taaaagatag gaagctgctt
     3961 atatatttaa taataaaaga agtgcacaag ctgc
//
LOCUS       NM_000758                788 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens colony stimulating factor 2 (CSF2), mRNA.
ACCESSION   NM_000758
VERSION     NM_000758.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 788)
  AUTHORS   Li CF, Chan TC, Fang FM, Yu SC and Huang HY.
  TITLE     PAK1 overexpression promotes myxofibrosarcoma angiogenesis through
            STAT5B-mediated CSF2 transactivation: clinical and therapeutic
            relevance of amplification and nuclear entry
  JOURNAL   Int J Biol Sci 19 (12), 3920-3936 (2023)
   PUBMED   37564209
  REMARK    GeneRIF: PAK1 overexpression promotes myxofibrosarcoma angiogenesis
            through STAT5B-mediated CSF2 transactivation: clinical and
            therapeutic relevance of amplification and nuclear entry.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 788)
  AUTHORS   Chen Y, Li F, Hua M, Liang M and Song C.
  TITLE     Role of GM-CSF in lung balance and disease
  JOURNAL   Front Immunol 14, 1158859 (2023)
   PUBMED   37081870
  REMARK    GeneRIF: Role of GM-CSF in lung balance and disease. Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 788)
  AUTHORS   Ead JK and Armstrong DG.
  TITLE     Granulocyte-macrophage colony-stimulating factor: Conductor of the
            wound healing orchestra?
  JOURNAL   Int Wound J 20 (4), 1229-1234 (2023)
   PUBMED   36632762
  REMARK    GeneRIF: Granulocyte-macrophage colony-stimulating factor: Conductor
            of the wound healing orchestra? Review article
REFERENCE   4  (bases 1 to 788)
  AUTHORS   Rebernick RJ, Bell HN, Bauer TM, McEwen D, Werkman DF, Chang AC, Lin
            J, Reddy RM, Kresty L and Lagisetty K.
  TITLE     Role of IL4 and GMCSF in Predicting Survival in Esophageal Cancer
  JOURNAL   J Am Coll Surg 236 (1), 107-115 (2023)
   PUBMED   36519914
  REMARK    GeneRIF: Role of IL4 and GMCSF in Predicting Survival in Esophageal
            Cancer.
REFERENCE   5  (bases 1 to 788)
  AUTHORS   Li H, Zhong R, He C, Tang C, Cui H, Li R, Liu Y, Lan S and Cheng Y.
  TITLE     Colony-stimulating factor CSF2 mediates the phenotypic plasticity of
            small-cell lung cancer by regulating the p-STAT3/MYC pathway
  JOURNAL   Oncol Rep 48 (1) (2022)
   PUBMED   35583004
  REMARK    GeneRIF: Colonystimulating factor CSF2 mediates the phenotypic
            plasticity of smallcell lung cancer by regulating the pSTAT3/MYC
            pathway.
REFERENCE   6  (bases 1 to 788)
  AUTHORS   Walter MR, Cook WJ, Ealick SE, Nagabhushan TL, Trotta PP and Bugg
            CE.
  TITLE     Three-dimensional structure of recombinant human
            granulocyte-macrophage colony-stimulating factor
  JOURNAL   J Mol Biol 224 (4), 1075-1085 (1992)
   PUBMED   1569568
REFERENCE   7  (bases 1 to 788)
  AUTHORS   Kaushansky K, Lopez JA and Brown CB.
  TITLE     Role of carbohydrate modification in the production and secretion of
            human granulocyte macrophage colony-stimulating factor in
            genetically engineered and normal mesenchymal cells
  JOURNAL   Biochemistry 31 (6), 1881-1886 (1992)
   PUBMED   1737041
REFERENCE   8  (bases 1 to 788)
  AUTHORS   Diederichs K, Boone T and Karplus PA.
  TITLE     Novel fold and putative receptor binding site of
            granulocyte-macrophage colony-stimulating factor
  JOURNAL   Science 254 (5039), 1779-1782 (1991)
   PUBMED   1837174
REFERENCE   9  (bases 1 to 788)
  AUTHORS   Frolova EI, Dolganov GM, Mazo IA, Smirnov DV, Copeland P, Stewart C,
            O'Brien SJ and Dean M.
  TITLE     Linkage mapping of the human CSF2 and IL3 genes
  JOURNAL   Proc Natl Acad Sci U S A 88 (11), 4821-4824 (1991)
   PUBMED   1675789
REFERENCE   10  (bases 1 to 788)
  AUTHORS   Hayashida K, Kitamura T, Gorman DM, Arai K, Yokota T and Miyajima A.
  TITLE     Molecular cloning of a second subunit of the receptor for human
            granulocyte-macrophage colony-stimulating factor (GM-CSF):
            reconstitution of a high-affinity GM-CSF receptor
  JOURNAL   Proc Natl Acad Sci U S A 87 (24), 9655-9659 (1990)
   PUBMED   1702217
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC108724.1, M11220.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142363,
            SAMEA2144335 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in cytokine storm inflammatory
            response
            MANE Ensembl match          :: ENST00000296871.4/ ENSP00000296871.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC034228.6, M11220.1 and
            BC108724.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000758.3.
            Summary: The protein encoded by this gene is a cytokine that
            controls the production, differentiation, and function of
            granulocytes and macrophages. The active form of the protein is
            found extracellularly as a homodimer. This gene has been localized
            to a cluster of related genes at chromosome region 5q31, which is
            known to be associated with interstitial deletions in the 5q-
            syndrome and acute myelogenous leukemia. Other genes in the cluster
            include those encoding interleukins 4, 5, and 13. This gene plays a
            role in promoting tissue inflammation. Elevated levels of
            cytokines, including the one produced by this gene, have been
            detected in SARS-CoV-2 infected patients that develop acute
            respiratory distress syndrome. Mice deficient in this gene or its
            receptor develop pulmonary alveolar proteinosis. [provided by
            RefSeq, Aug 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..788
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..788
                     /gene="CSF2"
                     /gene_synonym="CSF; GMCSF"
                     /note="colony stimulating factor 2"
                     /db_xref="GeneID:1437"
                     /db_xref="HGNC:HGNC:2434"
                     /db_xref="MIM:138960"
     CDS             36..470
                     /gene="CSF2"
                     /gene_synonym="CSF; GMCSF"
                     /note="sargramostim; molgramostin; molgramostim;
                     granulocyte macrophage-colony stimulating factor; colony
                     stimulating factor 2 (granulocyte-macrophage)"
                     /codon_start=1
                     /product="granulocyte-macrophage colony-stimulating factor
                     precursor"
                     /protein_id="NP_000749.2"
                     /db_xref="CCDS:CCDS4150.1"
                     /db_xref="GeneID:1437"
                     /db_xref="HGNC:HGNC:2434"
                     /db_xref="MIM:138960"
                     /translation="MWLQSLLLLGTVACSISAPARSPSPSTQPWEHVNAIQEARRLLNL
                     SRDTAAEMNETVEVISEMFDLQEPTCLQTRLELYKQGLRGSLTKLKGPLTMMASHYKQH
                     CPPTPETSCATQIITFESFKENLKDFLLVIPFDCWEPVQE"
     sig_peptide     36..86
                     /gene="CSF2"
                     /gene_synonym="CSF; GMCSF"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     87..467
                     /gene="CSF2"
                     /gene_synonym="CSF; GMCSF"
                     /product="Granulocyte-macrophage colony-stimulating factor.
                     /id=PRO_0000005865"
                     /note="propagated from UniProtKB/Swiss-Prot (P04141.1)"
     misc_feature    99..101
                     /gene="CSF2"
                     /gene_synonym="CSF; GMCSF"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:1737041; propagated from
                     UniProtKB/Swiss-Prot (P04141.1); glycosylation site"
     misc_feature    105..107
                     /gene="CSF2"
                     /gene_synonym="CSF; GMCSF"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:1737041; propagated from
                     UniProtKB/Swiss-Prot (P04141.1); glycosylation site"
     misc_feature    111..113
                     /gene="CSF2"
                     /gene_synonym="CSF; GMCSF"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:1737041; propagated from
                     UniProtKB/Swiss-Prot (P04141.1); glycosylation site"
     misc_feature    114..116
                     /gene="CSF2"
                     /gene_synonym="CSF; GMCSF"
                     /note="O-linked (GalNAc...) threonine, partial.
                     /evidence=ECO:0000269|PubMed:1737041; propagated from
                     UniProtKB/Swiss-Prot (P04141.1); glycosylation site"
     misc_feature    165..167
                     /gene="CSF2"
                     /gene_synonym="CSF; GMCSF"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P04141.1); glycosylation site"
     misc_feature    195..197
                     /gene="CSF2"
                     /gene_synonym="CSF; GMCSF"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P04141.1); glycosylation site"
     regulatory      767..772
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSF2"
                     /gene_synonym="CSF; GMCSF"
                     /note="hexamer: ATTAAA"
     polyA_site      788
                     /gene="CSF2"
                     /gene_synonym="CSF; GMCSF"
                     /note="major polyA site"
ORIGIN
        1 agtacacaga gagaaaggct aaagttctct ggaggatgtg gctgcagagc ctgctgctct
       61 tgggcactgt ggcctgcagc atctctgcac ccgcccgctc gcccagcccc agcacgcagc
      121 cctgggagca tgtgaatgcc atccaggagg cccggcgtct cctgaacctg agtagagaca
      181 ctgctgctga gatgaatgaa acagtagaag tcatctcaga aatgtttgac ctccaggagc
      241 cgacctgcct acagacccgc ctggagctgt acaagcaggg cctgcggggc agcctcacca
      301 agctcaaggg ccccttgacc atgatggcca gccactacaa gcagcactgc cctccaaccc
      361 cggaaacttc ctgtgcaacc cagattatca cctttgaaag tttcaaagag aacctgaagg
      421 actttctgct tgtcatcccc tttgactgct gggagccagt ccaggagtga gaccggccag
      481 atgaggctgg ccaagccggg gagctgctct ctcatgaaac aagagctaga aactcaggat
      541 ggtcatcttg gagggaccaa ggggtgggcc acagccatgg tgggagtggc ctggacctgc
      601 cctgggccac actgaccctg atacaggcat ggcagaagaa tgggaatatt ttatactgac
      661 agaaatcagt aatatttata tatttatatt tttaaaatat ttatttattt atttatttaa
      721 gttcatattc catatttatt caagatgttt taccgtaata attattatta aaaatatgct
      781 tctacttg
//
LOCUS       NM_000760               3008 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens colony stimulating factor 3 receptor (CSF3R),
            transcript variant 1, mRNA.
ACCESSION   NM_000760
VERSION     NM_000760.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3008)
  AUTHORS   Cui M, Li QY, Lu XZ, Chao HY, Cai XH, Liu J, Hua HY and Wu P.
  TITLE     [Analysis of CSF3R Gene Mutations and Clinical Characteristics in
            Patients with t(8;21) Acute Myeloid Leukemia]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 31 (4), 1019-1025 (2023)
   PUBMED   37551471
  REMARK    GeneRIF: [Analysis of CSF3R Gene Mutations and Clinical
            Characteristics in Patients with t(8;21) Acute Myeloid Leukemia].
REFERENCE   2  (bases 1 to 3008)
  AUTHORS   Hollander MJ, Malaker SA, Riley NM, Perez I, Abney NM, Gray MA,
            Maxson JE, Cochran JR and Bertozzi CR.
  TITLE     Mutational screens highlight glycosylation as a modulator of
            colony-stimulating factor 3 receptor (CSF3R) activity
  JOURNAL   J Biol Chem 299 (6), 104755 (2023)
   PUBMED   37116708
  REMARK    GeneRIF: Mutational screens highlight glycosylation as a modulator
            of colony-stimulating factor 3 receptor (CSF3R) activity.
REFERENCE   3  (bases 1 to 3008)
  AUTHORS   Su L, Tan YH, Lin H, Han W, Yang YP, Liu XL, Sun JN, Liu QJ and Gao
            SJ.
  TITLE     [Restratifying the prognosis of acute myeloid leukemia patients with
            CEBPA double mutations based on CSF3R mutations and measurable
            residual disease]
  JOURNAL   Zhonghua Xue Ye Xue Za Zhi 43 (12), 1021-1027 (2022)
   PUBMED   36709108
  REMARK    GeneRIF: [Restratifying the prognosis of acute myeloid leukemia
            patients with CEBPA double mutations based on CSF3R mutations and
            measurable residual disease].
REFERENCE   4  (bases 1 to 3008)
  AUTHORS   Dong F, Hoefsloot LH, Schelen AM, Broeders CA, Meijer Y, Veerman AJ,
            Touw IP and Lowenberg B.
  TITLE     Identification of a nonsense mutation in the
            granulocyte-colony-stimulating factor receptor in severe congenital
            neutropenia
  JOURNAL   Proc Natl Acad Sci U S A 91 (10), 4480-4484 (1994)
   PUBMED   7514305
REFERENCE   5  (bases 1 to 3008)
  AUTHORS   Tweardy DJ, Anderson K, Cannizzaro LA, Steinman RA, Croce CM and
            Huebner K.
  TITLE     Molecular cloning of cDNAs for the human granulocyte
            colony-stimulating factor receptor from HL-60 and mapping of the
            gene to chromosome region 1p32-34
  JOURNAL   Blood 79 (5), 1148-1154 (1992)
   PUBMED   1371413
REFERENCE   6  (bases 1 to 3008)
  AUTHORS   Seto Y, Fukunaga R and Nagata S.
  TITLE     Chromosomal gene organization of the human granulocyte
            colony-stimulating factor receptor
  JOURNAL   J Immunol 148 (1), 259-266 (1992)
   PUBMED   1530796
REFERENCE   7  (bases 1 to 3008)
  AUTHORS   Fukunaga R, Ishizaka-Ikeda E, Pan CX, Seto Y and Nagata S.
  TITLE     Functional domains of the granulocyte colony-stimulating factor
            receptor
  JOURNAL   EMBO J 10 (10), 2855-2865 (1991)
   PUBMED   1717255
REFERENCE   8  (bases 1 to 3008)
  AUTHORS   Inazawa J, Fukunaga R, Seto Y, Nakagawa H, Misawa S, Abe T and
            Nagata S.
  TITLE     Assignment of the human granulocyte colony-stimulating factor
            receptor gene (CSF3R) to chromosome 1 at region p35-p34.3
  JOURNAL   Genomics 10 (4), 1075-1078 (1991)
   PUBMED   1833306
REFERENCE   9  (bases 1 to 3008)
  AUTHORS   Larsen A, Davis T, Curtis BM, Gimpel S, Sims JE, Cosman D, Park L,
            Sorensen E, March CJ and Smith CA.
  TITLE     Expression cloning of a human granulocyte colony-stimulating factor
            receptor: a structural mosaic of hematopoietin receptor,
            immunoglobulin, and fibronectin domains
  JOURNAL   J Exp Med 172 (6), 1559-1570 (1990)
   PUBMED   2147944
REFERENCE   10  (bases 1 to 3008)
  AUTHORS   Fukunaga R, Seto Y, Mizushima S and Nagata S.
  TITLE     Three different mRNAs encoding human granulocyte colony-stimulating
            factor receptor
  JOURNAL   Proc Natl Acad Sci U S A 87 (22), 8702-8706 (1990)
   PUBMED   1701053
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC053585.1, SRR1660805.152526.1
            [ECO:0000332]
            RNAseq introns :: mixed/partial sample support SAMEA1965299,
            SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000373106.6/ ENSP00000362198.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA858302.1 and BC053585.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000760.3.
            Summary: The protein encoded by this gene is the receptor for
            colony stimulating factor 3, a cytokine that controls the
            production, differentiation, and function of granulocytes. The
            encoded protein, which is a member of the family of cytokine
            receptors, may also function in some cell surface adhesion or
            recognition processes. Alternatively spliced transcript variants
            have been described. Mutations in this gene are a cause of Kostmann
            syndrome, also known as severe congenital neutropenia. [provided by
            RefSeq, Aug 2010].
            Transcript Variant: This variant (1) encodes isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3008
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..3008
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="colony stimulating factor 3 receptor"
                     /db_xref="GeneID:1441"
                     /db_xref="HGNC:HGNC:2439"
                     /db_xref="MIM:138971"
     misc_feature    139..141
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="upstream in-frame stop codon"
     CDS             184..2694
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="isoform a precursor is encoded by transcript variant
                     1; CD114 antigen; G-CSF-R; G-CSF receptor; colony
                     stimulating factor 3 receptor (granulocyte)"
                     /codon_start=1
                     /product="granulocyte colony-stimulating factor receptor
                     isoform a precursor"
                     /protein_id="NP_000751.1"
                     /db_xref="CCDS:CCDS413.1"
                     /db_xref="GeneID:1441"
                     /db_xref="HGNC:HGNC:2439"
                     /db_xref="MIM:138971"
                     /translation="MARLGNCSLTWAALIILLLPGSLEECGHISVSAPIVHLGDPITAS
                     CIIKQNCSHLDPEPQILWRLGAELQPGGRQQRLSDGTQESIITLPHLNHTQAFLSCCLN
                     WGNSLQILDQVELRAGYPPAIPHNLSCLMNLTTSSLICQWEPGPETHLPTSFTLKSFKS
                     RGNCQTQGDSILDCVPKDGQSHCCIPRKHLLLYQNMGIWVQAENALGTSMSPQLCLDPM
                     DVVKLEPPMLRTMDPSPEAAPPQAGCLQLCWEPWQPGLHINQKCELRHKPQRGEASWAL
                     VGPLPLEALQYELCGLLPATAYTLQIRCIRWPLPGHWSDWSPSLELRTTERAPTVRLDT
                     WWRQRQLDPRTVQLFWKPVPLEEDSGRIQGYVVSWRPSGQAGAILPLCNTTELSCTFHL
                     PSEAQEVALVAYNSAGTSRPTPVVFSESRGPALTRLHAMARDPHSLWVGWEPPNPWPQG
                     YVIEWGLGPPSASNSNKTWRMEQNGRATGFLLKENIRPFQLYEIIVTPLYQDTMGPSQH
                     VYAYSQEMAPSHAPELHLKHIGKTWAQLEWVPEPPELGKSPLTHYTIFWTNAQNQSFSA
                     ILNASSRGFVLHGLEPASLYHIHLMAASQAGATNSTVLTLMTLTPEGSELHIILGLFGL
                     LLLLTCLCGTAWLCCSPNRKNPLWPSVPDPAHSSLGSWVPTIMEEDAFQLPGLGTPPIT
                     KLTVLEEDEKKPVPWESHNSSETCGLPTLVQTYVLQGDPRAVSTQPQSQSGTSDQVLYG
                     QLLGSPTSPGPGHYLRCDSTQPLLAGLTPSPKSYENLWFQASPLGTLVTPAPSQEDDCV
                     FGPLLNFPLLQGIRVHGMEALGSF"
     sig_peptide     184..255
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     256..2691
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /product="Granulocyte colony-stimulating factor receptor.
                     /id=PRO_0000010874"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99062.1)"
     misc_feature    334..336
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q99062.1); glycosylation site"
     misc_feature    460..462
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q99062.1); glycosylation site"
     misc_feature    565..567
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q99062.1); glycosylation site"
     misc_feature    583..585
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16492764; propagated from
                     UniProtKB/Swiss-Prot (Q99062.1); glycosylation site"
     misc_feature    1135..1149
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99062.1);
                     Region: WSXWS motif"
     misc_feature    1348..1350
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q99062.1); glycosylation site"
     misc_feature    1603..1605
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q99062.1); glycosylation site"
     misc_feature    1918..1920
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q99062.1); glycosylation site"
     misc_feature    2011..2013
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q99062.1); glycosylation site"
     misc_feature    2065..2133
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99062.1);
                     transmembrane region"
     misc_feature    2155..2181
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99062.1);
                     Region: Box 1 motif"
     polyA_site      2973
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="major polyA site"
     polyA_site      3008
                     /gene="CSF3R"
                     /gene_synonym="CD114; GCSFR; SCN7"
                     /note="major polyA site"
ORIGIN
        1 agagctcggg gagagaagct ggactgcagc tggtttcagg aacttctctt gacgagaaga
       61 gagaccaagg aggccaagca ggggctgggc cagaggtgcc aacatgggga aactgaggct
      121 cggctcggaa aggtgaagta acttgtccaa gatcacaaag ctggtgaaca tcaagttggt
      181 gctatggcaa ggctgggaaa ctgcagcctg acttgggctg ccctgatcat cctgctgctc
      241 cccggaagtc tggaggagtg cgggcacatc agtgtctcag cccccatcgt ccacctgggg
      301 gatcccatca cagcctcctg catcatcaag cagaactgca gccatctgga cccggagcca
      361 cagattctgt ggagactggg agcagagctt cagcccgggg gcaggcagca gcgtctgtct
      421 gatgggaccc aggaatctat catcaccctg ccccacctca accacactca ggcctttctc
      481 tcctgctgcc tgaactgggg caacagcctg cagatcctgg accaggttga gctgcgcgca
      541 ggctaccctc cagccatacc ccacaacctc tcctgcctca tgaacctcac aaccagcagc
      601 ctcatctgcc agtgggagcc aggacctgag acccacctac ccaccagctt cactctgaag
      661 agtttcaaga gccggggcaa ctgtcagacc caaggggact ccatcctgga ctgcgtgccc
      721 aaggacgggc agagccactg ctgcatccca cgcaaacacc tgctgttgta ccagaatatg
      781 ggcatctggg tgcaggcaga gaatgcgctg gggaccagca tgtccccaca actgtgtctt
      841 gatcccatgg atgttgtgaa actggagccc cccatgctgc ggaccatgga ccccagccct
      901 gaagcggccc ctccccaggc aggctgccta cagctgtgct gggagccatg gcagccaggc
      961 ctgcacataa atcagaagtg tgagctgcgc cacaagccgc agcgtggaga agccagctgg
     1021 gcactggtgg gccccctccc cttggaggcc cttcagtatg agctctgcgg gctcctccca
     1081 gccacggcct acaccctgca gatacgctgc atccgctggc ccctgcctgg ccactggagc
     1141 gactggagcc ccagcctgga gctgagaact accgaacggg cccccactgt cagactggac
     1201 acatggtggc ggcagaggca gctggacccc aggacagtgc agctgttctg gaagccagtg
     1261 cccctggagg aagacagcgg acggatccaa ggttatgtgg tttcttggag accctcaggc
     1321 caggctgggg ccatcctgcc cctctgcaac accacagagc tcagctgcac cttccacctg
     1381 ccttcagaag cccaggaggt ggcccttgtg gcctataact cagccgggac ctctcgtccc
     1441 actccggtgg tcttctcaga aagcagaggc ccagctctga ccagactcca tgccatggcc
     1501 cgagaccctc acagcctctg ggtaggctgg gagcccccca atccatggcc tcagggctat
     1561 gtgattgagt ggggcctggg cccccccagc gcgagcaata gcaacaagac ctggaggatg
     1621 gaacagaatg ggagagccac ggggtttctg ctgaaggaga acatcaggcc ctttcagctc
     1681 tatgagatca tcgtgactcc cttgtaccag gacaccatgg gaccctccca gcatgtctat
     1741 gcctactctc aagaaatggc tccctcccat gccccagagc tgcatctaaa gcacattggc
     1801 aagacctggg cacagctgga gtgggtgcct gagccccctg agctggggaa gagccccctt
     1861 acccactaca ccatcttctg gaccaacgct cagaaccagt ccttctccgc catcctgaat
     1921 gcctcctccc gtggctttgt cctccatggc ctggagcccg ccagtctgta tcacatccac
     1981 ctcatggctg ccagccaggc tggggccacc aacagtacag tcctcaccct gatgaccttg
     2041 accccagagg ggtcggagct acacatcatc ctgggcctgt tcggcctcct gctgttgctc
     2101 acctgcctct gtggaactgc ctggctctgt tgcagcccca acaggaagaa tcccctctgg
     2161 ccaagtgtcc cagacccagc tcacagcagc ctgggctcct gggtgcccac aatcatggag
     2221 gaggatgcct tccagctgcc cggccttggc acgccaccca tcaccaagct cacagtgctg
     2281 gaggaggatg aaaagaagcc ggtgccctgg gagtcccata acagctcaga gacctgtggc
     2341 ctccccactc tggtccagac ctatgtgctc cagggggacc caagagcagt ttccacccag
     2401 ccccaatccc agtctggcac cagcgatcag gtcctttatg ggcagctgct gggcagcccc
     2461 acaagcccag ggccagggca ctatctccgc tgtgactcca ctcagcccct cttggcgggc
     2521 ctcaccccca gccccaagtc ctatgagaac ctctggttcc aggccagccc cttggggacc
     2581 ctggtaaccc cagccccaag ccaggaggac gactgtgtct ttgggccact gctcaacttc
     2641 cccctcctgc aggggatccg ggtccatggg atggaggcgc tggggagctt ctagggcttc
     2701 ctggggttcc cttcttgggc ctgcctctta aaggcctgag ctagctggag aagaggggag
     2761 ggtccataag cccatgacta aaaactaccc cagcccaggc tctcaccatc tccagtcacc
     2821 agcatctccc tctcctccca atctccatag gctgggcctc ccaggcgatc tgcatacttt
     2881 aaggaccaga tcatgctcca tccagcccca cccaatggcc ttttgtgctt gtttcctata
     2941 acttcagtat tgtaaactag tttttggttt gcagtttttg ttgttgttta tagacactct
     3001 tgggtgta
//
LOCUS       NM_000761               3132 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens cytochrome P450 family 1 subfamily A member 2 (CYP1A2),
            mRNA.
ACCESSION   NM_000761
VERSION     NM_000761.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3132)
  AUTHORS   Dutkiewicz Z and Mikstacka R.
  TITLE     Hydration and Structural Adaptations of the Human CYP1A1, CYP1A2,
            and CYP1B1 Active Sites by Molecular Dynamics Simulations
  JOURNAL   Int J Mol Sci 24 (14), 11481 (2023)
   PUBMED   37511239
  REMARK    GeneRIF: Hydration and Structural Adaptations of the Human CYP1A1,
            CYP1A2, and CYP1B1 Active Sites by Molecular Dynamics Simulations.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3132)
  AUTHORS   Aiello JJ, Nagelkirk PR, Sackett JR, Fitzgerald LF, Hargens TA,
            Saunders MJ, El-Sohemy A and Womack CJ.
  TITLE     The influence of the CYP1A2-163 C>A polymorphism on the hemostatic
            response to exercise following caffeine supplementation
  JOURNAL   J Sports Med Phys Fitness 63 (3), 471-477 (2023)
   PUBMED   36239290
  REMARK    GeneRIF: The influence of the CYP1A2-163 C>A polymorphism on the
            hemostatic response to exercise following caffeine supplementation.
REFERENCE   3  (bases 1 to 3132)
  AUTHORS   Mahdavi S, Palatini P and El-Sohemy A.
  TITLE     CYP1A2 Genetic Variation, Coffee Intake, and Kidney Dysfunction
  JOURNAL   JAMA Netw Open 6 (1), e2247868 (2023)
   PUBMED   36701157
  REMARK    GeneRIF: CYP1A2 Genetic Variation, Coffee Intake, and Kidney
            Dysfunction. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3132)
  AUTHORS   Barati S, Fabrizio C, Strafella C, Cascella R, Caputo V, Megalizzi
            D, Peconi C, Mela J, Colantoni L, Caltagirone C, Termine A and
            Giardina E.
  TITLE     Relationship between Nutrition, Lifestyle, and Neurodegenerative
            Disease: Lessons from ADH1B, CYP1A2 and MTHFR
  JOURNAL   Genes (Basel) 13 (8), 1498 (2022)
   PUBMED   36011409
  REMARK    GeneRIF: Relationship between Nutrition, Lifestyle, and
            Neurodegenerative Disease: Lessons from ADH1B, CYP1A2 and MTHFR.
            Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3132)
  AUTHORS   Jiang Z, Dragin N, Jorge-Nebert LF, Martin MV, Guengerich FP,
            Aklillu E, Ingelman-Sundberg M, Hammons GJ, Lyn-Cook BD, Kadlubar
            FF, Saldana SN, Sorter M, Vinks AA, Nassr N, von Richter O, Jin L
            and Nebert DW.
  TITLE     Search for an association between the human CYP1A2 genotype and
            CYP1A2 metabolic phenotype
  JOURNAL   Pharmacogenet Genomics 16 (5), 359-367 (2006)
   PUBMED   16609368
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3132)
  AUTHORS   Jiang Z, Dalton TP, Jin L, Wang B, Tsuneoka Y, Shertzer HG, Deka R
            and Nebert DW.
  TITLE     Toward the evaluation of function in genetic variability:
            characterizing human SNP frequencies and establishing BAC-transgenic
            mice carrying the human CYP1A1_CYP1A2 locus
  JOURNAL   Hum Mutat 25 (2), 196-206 (2005)
   PUBMED   15643613
  REMARK    GeneRIF: Determination of SNP frequencies in the CYP1A1_CYP1A2
            locus.
REFERENCE   7  (bases 1 to 3132)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   8  (bases 1 to 3132)
  AUTHORS   Butler MA, Iwasaki M, Guengerich FP and Kadlubar FF.
  TITLE     Human cytochrome P-450PA (P-450IA2), the phenacetin O-deethylase, is
            primarily responsible for the hepatic 3-demethylation of caffeine
            and N-oxidation of carcinogenic arylamines
  JOURNAL   Proc Natl Acad Sci U S A 86 (20), 7696-7700 (1989)
   PUBMED   2813353
REFERENCE   9  (bases 1 to 3132)
  AUTHORS   Ikeya K, Jaiswal AK, Owens RA, Jones JE, Nebert DW and Kimura S.
  TITLE     Human CYP1A2: sequence, gene structure, comparison with the mouse
            and rat orthologous gene, and differences in liver 1A2 mRNA
            expression
  JOURNAL   Mol Endocrinol 3 (9), 1399-1408 (1989)
   PUBMED   2575218
REFERENCE   10  (bases 1 to 3132)
  AUTHORS   Quattrochi,L.C., Okino,S.T., Pendurthi,U.R. and Tukey,R.H.
  TITLE     Cloning and isolation of human cytochrome P-450 cDNAs homologous to
            dioxin-inducible rabbit mRNAs encoding P-450 4 and P-450 6
  JOURNAL   DNA 4 (5), 395-400 (1985)
   PUBMED   3000715
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DRR138522.1654960.1,
            DRR138522.284204.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145122,
            SAMEA2155590 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000343932.5/ ENSP00000342007.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091230.23, BC067424.1 and
            KF459683.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 9, 2018 this sequence version replaced NM_000761.4.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            The protein encoded by this gene localizes to the endoplasmic
            reticulum and its expression is induced by some polycyclic aromatic
            hydrocarbons (PAHs), some of which are found in cigarette smoke.
            The enzyme's endogenous substrate is unknown; however, it is able
            to metabolize some PAHs to carcinogenic intermediates. Other
            xenobiotic substrates for this enzyme include caffeine, aflatoxin
            B1, and acetaminophen. The transcript from this gene contains four
            Alu sequences flanked by direct repeats in the 3' untranslated
            region. [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3132
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     gene            1..3132
                     /gene="CYP1A2"
                     /gene_synonym="CP12; CYPIA2; P3-450; P450(PA)"
                     /note="cytochrome P450 family 1 subfamily A member 2"
                     /db_xref="GeneID:1544"
                     /db_xref="HGNC:HGNC:2596"
                     /db_xref="MIM:124060"
     CDS             63..1613
                     /gene="CYP1A2"
                     /gene_synonym="CP12; CYPIA2; P3-450; P450(PA)"
                     /EC_number="1.14.14.1"
                     /EC_number="4.2.1.152"
                     /note="P450 form 4; xenobiotic monooxygenase; aryl
                     hydrocarbon hydroxylase; microsomal monooxygenase;
                     flavoprotein-linked monooxygenase; cytochrome P450,
                     subfamily I (aromatic compound-inducible), polypeptide 2;
                     dioxin-inducible P3-450; cholesterol 25-hydroxylase;
                     cytochrome P450 4; cytochrome P(3)450; cytochrome P450-P3;
                     cytochrome P450, family 1, subfamily A, polypeptide 2;
                     hydroperoxy icosatetraenoate dehydratase"
                     /codon_start=1
                     /product="cytochrome P450 1A2"
                     /protein_id="NP_000752.2"
                     /db_xref="CCDS:CCDS32293.1"
                     /db_xref="GeneID:1544"
                     /db_xref="HGNC:HGNC:2596"
                     /db_xref="MIM:124060"
                     /translation="MALSQSVPFSATELLLASAIFCLVFWVLKGLRPRVPKGLKSPPEP
                     WGWPLLGHVLTLGKNPHLALSRMSQRYGDVLQIRIGSTPVLVLSRLDTIRQALVRQGDD
                     FKGRPDLYTSTLITDGQSLTFSTDSGPVWAARRRLAQNALNTFSIASDPASSSSCYLEE
                     HVSKEAKALISRLQELMAGPGHFDPYNQVVVSVANVIGAMCFGQHFPESSDEMLSLVKN
                     THEFVETASSGNPLDFFPILRYLPNPALQRFKAFNQRFLWFLQKTVQEHYQDFDKNSVR
                     DITGALFKHSKKGPRASGNLIPQEKIVNLVNDIFGAGFDTVTTAISWSLMYLVTKPEIQ
                     RKIQKELDTVIGRERRPRLSDRPQLPYLEAFILETFRHSSFLPFTIPHSTTRDTTLNGF
                     YIPKKCCVFVNQWQVNHDPELWEDPSEFRPERFLTADGTAINKPLSEKMMLFGMGKRRC
                     IGEVLAKWEIFLFLAILLQQLEFSVPPGVKVDLTPIYGLTMKHARCEHVQARLRFSIN"
     misc_feature    267..269
                     /gene="CYP1A2"
                     /gene_synonym="CP12; CYPIA2; P3-450; P450(PA)"
                     /note="O-linked (GlcNAc) serine. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P05177.4);
                     glycosylation site"
     regulatory      3105..3110
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP1A2"
                     /gene_synonym="CP12; CYPIA2; P3-450; P450(PA)"
                     /note="hexamer: TATAAA"
     polyA_site      3126
                     /gene="CYP1A2"
                     /gene_synonym="CP12; CYPIA2; P3-450; P450(PA)"
                     /note="major polyA site"
ORIGIN
        1 agctccacac cagccattac aaccctgcca atctcaagca cctgcctcta cagttggtac
       61 agatggcatt gtcccagtct gttcccttct cggccacaga gcttctcctg gcctctgcca
      121 tcttctgcct ggtattctgg gtgctcaagg gtttgaggcc tcgggtcccc aaaggcctga
      181 aaagtccacc agagccatgg ggctggccct tgctcgggca tgtgctgacc ctggggaaga
      241 acccgcacct ggcactgtca aggatgagcc agcgctacgg ggacgtcctg cagatccgca
      301 ttggctccac gcccgtgctg gtgctgagcc gcctggacac catccggcag gccctggtgc
      361 ggcagggcga cgatttcaag ggccggcctg acctctacac ctccaccctc atcactgatg
      421 gccagagctt gaccttcagc acagactctg gaccggtgtg ggctgcccgc cggcgcctgg
      481 cccagaatgc cctcaacacc ttctccatcg cctctgaccc agcttcctca tcctcctgct
      541 acctggagga gcatgtgagc aaggaggcta aggccctgat cagcaggttg caggagctga
      601 tggcagggcc tgggcacttc gacccttaca atcaggtggt ggtgtcagtg gccaacgtca
      661 ttggtgccat gtgcttcgga cagcacttcc ctgagagtag cgatgagatg ctcagcctcg
      721 tgaagaacac tcatgagttc gtggagactg cctcctccgg gaaccccctg gacttcttcc
      781 ccatccttcg ctacctgcct aaccctgccc tgcagaggtt caaggccttc aaccagaggt
      841 tcctgtggtt cctgcagaaa acagtccagg agcactatca ggactttgac aagaacagtg
      901 tccgggacat cacgggtgcc ctgttcaagc acagcaagaa ggggcctaga gccagcggca
      961 acctcatccc acaggagaag attgtcaacc ttgtcaatga catctttgga gcaggatttg
     1021 acacagtcac cacagccatc tcctggagcc tcatgtacct tgtgaccaag cctgagatac
     1081 agaggaagat ccagaaggag ctggacactg tgattggcag ggagcggcgg ccccggctct
     1141 ctgacagacc ccagctgccc tacttggagg ccttcatcct ggagaccttc cgacactcct
     1201 ccttcttgcc cttcaccatc ccccacagca caacaaggga cacaacgctg aatggcttct
     1261 acatccccaa gaaatgctgt gtcttcgtaa accagtggca ggtcaaccat gacccagagc
     1321 tgtgggagga cccctctgag ttccggcctg agcggttcct caccgccgat ggcactgcca
     1381 ttaacaagcc cttgagtgag aagatgatgc tgtttggcat gggcaagcgc cggtgtatcg
     1441 gggaagtcct ggccaagtgg gagatcttcc tcttcctggc catcctgcta cagcaactgg
     1501 agttcagcgt gccgccgggc gtgaaagtcg acctgacccc catctacggg ctgaccatga
     1561 agcacgcccg ctgtgaacat gtccaggcgc ggctgcgctt ctccatcaat tgaagaagac
     1621 accaccattc tgaggccagg gagcgagtgg gggccagcca cggggactca gcccttgttt
     1681 ctcttccttt ctttttttaa aaaatagcag ctttagccaa gtgcagggcc tgtaatccca
     1741 gcattttagg aggccaaggt tggaggatca tttgagccca ggaattggaa agcagcctgg
     1801 ccaacatagt gggaccctgt ctctacaaaa aaaaaatttg ccaagagcct gagtgacaga
     1861 gcaagacccc atctcaaaaa aaaaaacaaa caaacaaaaa aaaaaccata tatatacata
     1921 tatatatagc agctttatgg agatataatt cttatgccat ataattcacc ttcttttttt
     1981 ttttttgtct gagacagaat ctcagtctgt cacccaggtt ggagtgcagt ggcgtgatct
     2041 cagctcactg caacctccac ctcgcaggtt caagcaatcc tcccacttca gcctcccaag
     2101 cacctgggat tacaagcatg agtcactacg cctggctgat ttttgtagtt ttagtggaga
     2161 tggggtttca ccatgttggc caggcttgtc tcgaactcct gaccccaagt tatccacctg
     2221 ccttggcttc ccaaagtcct gggattacag gtgtgagcca ccacatccag cctaacttac
     2281 attcttaaag tgtcgaatga cttctagtgt agaattgtgc aaccatcacc agaattaatt
     2341 ttattattct tattattttt gagacagagt cttactctgt tgccaggctg gagtgcagtg
     2401 gcgcgatctc agctcactac aacctccgcc tcccatgttc aagcgattct cctgcctcag
     2461 cctcccgagt agctgggact ataggcatgc gccaccatgg ccagctaatt tttgtatttt
     2521 tagtagagac gaggtttcac tgtgttggcc aggatggtct ccatctcttg acctcgtgat
     2581 ccacccgcct cagcctccca aagtgctggg attaacaggt atgaaccacc gcgcccagcc
     2641 tttttgtttt tttttttttt gagacagagt cttcctctgt ctcctaagct ggagtgcagt
     2701 ggcatcatct cagctcactg caacctctgc ctcccaggtt caagtgcttc tccagcctca
     2761 gcctcccaag tagctgagac tacaggcaca caccaccacg cctggctaat ttttgtattt
     2821 ttagtagaga cgggtttcac catgttggct agactagtct caaactcctg acctcaagtg
     2881 atctgcccgc ctcgacctct ctcaaagtgc tggcattaca ggtgtgagcc acggtgcccg
     2941 gcccacaatt aattttagaa cattttcatc acccctaaaa gaaaccctgc acccattagc
     3001 agtccctcca catttccccc tagcctgcct cccctgcctc accagccctg gcaactgcta
     3061 atctactttc tgtgtctatg gatttgcctt ctctaaacat ttcatataaa tggaattaca
     3121 caatgagtgg tc
//
LOCUS       NM_000762               1761 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily A member 6 (CYP2A6),
            mRNA.
ACCESSION   NM_000762
VERSION     NM_000762.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1761)
  AUTHORS   Langlois AWR, El-Boraie A, Pouget JG, Cox LS, Ahluwalia JS, Fukunaga
            K, Mushiroda T, Knight J, Chenoweth MJ and Tyndale RF.
  TITLE     Genotyping, characterization, and imputation of known and novel
            CYP2A6 structural variants using SNP array data
  JOURNAL   J Hum Genet 68 (8), 533-541 (2023)
   PUBMED   37059825
  REMARK    GeneRIF: Genotyping, characterization, and imputation of known and
            novel CYP2A6 structural variants using SNP array data.
REFERENCE   2  (bases 1 to 1761)
  AUTHORS   Ding X, Zhang W, Yu W, Li Y, Shao G, Zhang L, Zhao RC and Li X.
  TITLE     Recurrent CYP2A6 gene mutation in biphasic hyalinizing psammomatous
            renal cell carcinoma: Additional support of three cases
  JOURNAL   Pathol Res Pract 245, 154468 (2023)
   PUBMED   37104959
  REMARK    GeneRIF: Recurrent CYP2A6 gene mutation in biphasic hyalinizing
            psammomatous renal cell carcinoma: Additional support of three
            cases.
REFERENCE   3  (bases 1 to 1761)
  AUTHORS   Mappangara I, Yusuf I, Aspar Mappahya A and Qanitha A.
  TITLE     CYP2A6 gene polymorphism and severity of coronary atherosclerosis in
            Indonesian male smokers: A pilot study
  JOURNAL   Medicine (Baltimore) 101 (37), e30308 (2022)
   PUBMED   36123879
  REMARK    GeneRIF: CYP2A6 gene polymorphism and severity of coronary
            atherosclerosis in Indonesian male smokers: A pilot study.
REFERENCE   4  (bases 1 to 1761)
  AUTHORS   Langlois AWR, El-Boraie A, Fukunaga K, Mushiroda T, Kubo M, Lerman
            C, Knight J, Scherer SE, Chenoweth MJ and Tyndale RF.
  TITLE     Accuracy and applications of sequencing and genotyping approaches
            for CYP2A6 and homologous genes
  JOURNAL   Pharmacogenet Genomics 32 (4), 159-172 (2022)
   PUBMED   35190513
  REMARK    GeneRIF: Accuracy and applications of sequencing and genotyping
            approaches for CYP2A6 and homologous genes.
REFERENCE   5  (bases 1 to 1761)
  AUTHORS   Yadav VK, Katiyar T, Ruwali M, Yadav S, Singh S, Hadi R, Bhatt MLB
            and Parmar D.
  TITLE     Polymorphism in cytochrome P4502A6 reduces the risk to head and neck
            cancer and modifies the treatment outcome
  JOURNAL   Environ Mol Mutagen 62 (9), 502-511 (2021)
   PUBMED   34655463
  REMARK    GeneRIF: Polymorphism in cytochrome P4502A6 reduces the risk to head
            and neck cancer and modifies the treatment outcome.
REFERENCE   6  (bases 1 to 1761)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 1761)
  AUTHORS   Yun CH, Shimada T and Guengerich FP.
  TITLE     Purification and characterization of human liver microsomal
            cytochrome P-450 2A6
  JOURNAL   Mol Pharmacol 40 (5), 679-685 (1991)
   PUBMED   1944238
REFERENCE   8  (bases 1 to 1761)
  AUTHORS   Maurice M, Emiliani S, Dalet-Beluche I, Derancourt J and Lange R.
  TITLE     Isolation and characterization of a cytochrome P450 of the IIA
            subfamily from human liver microsomes
  JOURNAL   Eur J Biochem 200 (2), 511-517 (1991)
   PUBMED   1889415
REFERENCE   9  (bases 1 to 1761)
  AUTHORS   Yamano S, Tatsuno J and Gonzalez FJ.
  TITLE     The CYP2A3 gene product catalyzes coumarin 7-hydroxylation in human
            liver microsomes
  JOURNAL   Biochemistry 29 (5), 1322-1329 (1990)
   PUBMED   2322567
REFERENCE   10  (bases 1 to 1761)
  AUTHORS   Miles JS, Bickmore W, Brook JD, McLaren AW, Meehan R and Wolf CR.
  TITLE     Close linkage of the human cytochrome P450IIA and P450IIB gene
            subfamilies: implications for the assignment of substrate
            specificity
  JOURNAL   Nucleic Acids Res 17 (8), 2907-2917 (1989)
   PUBMED   2726448
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK312964.1, SRR5189664.143627.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2162895
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000301141.10/ ENSP00000301141.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA641580.1, BC096254.1,
            BC096256.1 and X13897.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000762.5.
            Summary: This gene, CYP2A6, encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum and its
            expression is induced by phenobarbital. The enzyme is known to
            hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1,
            nitrosamines, and some pharmaceuticals. Individuals with certain
            allelic variants are said to have a poor metabolizer phenotype,
            meaning they do not efficiently metabolize coumarin or nicotine.
            This gene is part of a large cluster of cytochrome P450 genes from
            the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene
            was formerly referred to as CYP2A3; however, it has been renamed
            CYP2A6. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1761
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1761
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /note="cytochrome P450 family 2 subfamily A member 6"
                     /db_xref="GeneID:1548"
                     /db_xref="HGNC:HGNC:2610"
                     /db_xref="MIM:122720"
     CDS             22..1506
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /EC_number="1.14.14.1"
                     /note="xenobiotic monooxygenase; flavoprotein-linked
                     monooxygenase; coumarin 7-hydroxylase; cytochrome P450,
                     subfamily IIA (phenobarbital-inducible), polypeptide 6;
                     cytochrome P450 2A6; cytochrome P450(I); cytochrome P450
                     IIA3; 1,4-cineole 2-exo-monooxygenase; cytochrome P450,
                     family 2, subfamily A, polypeptide 6"
                     /codon_start=1
                     /product="cytochrome P450 2A6 precursor"
                     /protein_id="NP_000753.3"
                     /db_xref="CCDS:CCDS12568.1"
                     /db_xref="GeneID:1548"
                     /db_xref="HGNC:HGNC:2610"
                     /db_xref="MIM:122720"
                     /translation="MLASGMLLVALLVCLTVMVLMSVWQQRKSKGKLPPGPTPLPFIGN
                     YLQLNTEQMYNSLMKISERYGPVFTIHLGPRRVVVLCGHDAVREALVDQAEEFSGRGEQ
                     ATFDWVFKGYGVVFSNGERAKQLRRFSIATLRDFGVGKRGIEERIQEEAGFLIDALRGT
                     GGANIDPTFFLSRTVSNVISSIVFGDRFDYKDKEFLSLLRMMLGIFQFTSTSTGQLYEM
                     FSSVMKHLPGPQQQAFQLLQGLEDFIAKKVEHNQRTLDPNSPRDFIDSFLIRMQEEEKN
                     PNTEFYLKNLVMTTLNLFIGGTETVSTTLRYGFLLLMKHPEVEAKVHEEIDRVIGKNRQ
                     PKFEDRAKMPYMEAVIHEIQRFGDVIPMSLARRVKKDTKFRDFFLPKGTEVYPMLGSVL
                     RDPSFFSNPQDFNPQHFLNEKGQFKKSDAFVPFSIGKRNCFGEGLARMELFLFFTTVMQ
                     NFRLKSSQSPKDIDVSPKHVGFATIPRNYTMSFLPR"
     sig_peptide     22..84
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    1336..1338
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /note="heme binding site"
     regulatory      1737..1742
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /note="hexamer: AATAAT"
     polyA_site      1761
                     /gene="CYP2A6"
                     /gene_synonym="CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A;
                     P450PB"
                     /note="major polyA site"
ORIGIN
        1 atctatcatc ccactaccac catgctggcc tcagggatgc ttctggtggc cttgctggtc
       61 tgcctgactg taatggtctt gatgtctgtt tggcagcaga ggaagagcaa ggggaagctg
      121 cctccgggac ccaccccatt gcccttcatt ggaaactacc tgcagctgaa cacagagcag
      181 atgtacaact ccctcatgaa gatcagtgag cgctatggcc ccgtgttcac cattcacttg
      241 gggccccggc gggtcgtggt gctgtgtgga catgatgccg tcagggaggc tctggtggac
      301 caggctgagg agttcagcgg gcgaggcgag caagccacct tcgactgggt cttcaaaggc
      361 tatggcgtgg tattcagcaa cggggagcgc gccaagcagc tccggcgctt ctccatcgcc
      421 accctgcggg acttcggggt gggcaagcga ggcatcgagg agcgcatcca ggaggaggcg
      481 ggcttcctca tcgacgccct ccggggcact ggcggcgcca atatcgatcc caccttcttc
      541 ctgagccgca cagtctccaa tgtcatcagc tccattgtct ttggggaccg ctttgactat
      601 aaggacaaag agttcctgtc actgttgcgc atgatgctag gaatcttcca gttcacgtca
      661 acctccacgg ggcagctcta tgagatgttc tcttcggtga tgaaacacct gccaggacca
      721 cagcaacagg cctttcagtt gctgcaaggg ctggaggact tcatagccaa gaaggtggag
      781 cacaaccagc gcacgctgga tcccaattcc ccacgggact tcattgactc ctttctcatc
      841 cgcatgcagg aggaggagaa gaaccccaac acggagttct acttgaaaaa cctggtgatg
      901 accacgttga acctcttcat tgggggcacc gagaccgtca gcaccaccct gcgctatggc
      961 ttcttgctgc tcatgaagca cccagaggtg gaggccaagg tccatgagga gattgacaga
     1021 gtgatcggca agaaccggca gcccaagttt gaggaccggg ccaagatgcc ctacatggag
     1081 gcagtgatcc acgagatcca aagatttgga gacgtgatcc ccatgagttt ggcccgcaga
     1141 gtcaaaaagg acaccaagtt tcgggatttc ttcctcccta agggcaccga agtgtaccct
     1201 atgctgggct ctgtgctgag agaccccagt ttcttctcca acccccagga cttcaatccc
     1261 cagcacttcc tgaatgagaa ggggcagttt aagaagagtg atgcttttgt gcccttttcc
     1321 atcggaaagc ggaactgttt cggagaaggc ctggccagaa tggagctctt tctcttcttc
     1381 accaccgtca tgcagaactt ccgcctcaag tcctcccagt cacctaagga cattgacgtg
     1441 tcccccaaac acgtgggctt tgccacgatc ccacgaaact acaccatgag cttcctgccc
     1501 cgctgagcga gggctgtgcc ggtgcaggtc tggtgggcgg ggccagggaa agggcagggc
     1561 caagaccggg cttgggagag gggcgcagct aagactgggg gcaggatggc ggaaaggaag
     1621 gggcgtggtg gctagaggga agagaagaaa cagaagcggc tcagttcacc ttgataaggt
     1681 gcttccgagc tgggatgaga ggaaggaaac ccttacatta tgctatgaag agtagtaata
     1741 atagcagctc ttatttcctg a
//
LOCUS       NM_000764               1760 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily A member 7 (CYP2A7),
            transcript variant 1, mRNA.
ACCESSION   NM_000764
VERSION     NM_000764.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1760)
  AUTHORS   Lutz SM, Frederiksen B, Begum F, McDonald MN, Cho MH, Hobbs BD,
            Parker MM, DeMeo DL, Hersh CP, Ehringer MA, Young K, Jiang L,
            Foreman MG, Kinney GL, Make BJ, Lomas DA, Bakke P, Gulsvik A, Crapo
            JD, Silverman EK, Beaty TH and Hokanson JE.
  CONSRTM   ECLIPSE and COPDGene Investigators
  TITLE     Common and Rare Variants Genetic Association Analysis of Cigarettes
            per Day Among Ever-Smokers in Chronic Obstructive Pulmonary Disease
            Cases and Controls
  JOURNAL   Nicotine Tob Res 21 (6), 714-722 (2019)
   PUBMED   29767774
  REMARK    GeneRIF: Single nucleotide polymorphism in CYP2A7 gene is associated
            with smoking in whites with Chronic Obstructive Pulmonary Disease.
REFERENCE   2  (bases 1 to 1760)
  AUTHORS   Walker LC, Marquart L, Pearson JF, Wiggins GA, O'Mara TA, Parsons
            MT, Barrowdale D, McGuffog L, Dennis J, Benitez J, Slavin TP, Radice
            P, Frost D, Godwin AK, Meindl A, Schmutzler RK, Isaacs C, Peshkin
            BN, Caldes T, Hogervorst FB, Lazaro C, Jakubowska A, Montagna M,
            Chen X, Offit K, Hulick PJ, Andrulis IL, Lindblom A, Nussbaum RL,
            Nathanson KL, Chenevix-Trench G, Antoniou AC, Couch FJ and Spurdle
            AB.
  CONSRTM   BCFR; EMBRACE; GEMO Study Collaborators; HEBON; KConFab
            Investigators
  TITLE     Evaluation of copy-number variants as modifiers of breast and
            ovarian cancer risk for BRCA1 pathogenic variant carriers
  JOURNAL   Eur J Hum Genet 25 (4), 432-438 (2017)
   PUBMED   28145423
  REMARK    GeneRIF: CNV deletion at the CYP2A7 is associated with decreased
            ovarian cancer risk in BRCA1 carriers. Erratum:[Eur J Hum Genet.
            2019 Jan;27(1):167-168. PMID: 30135485]
REFERENCE   3  (bases 1 to 1760)
  AUTHORS   Nakano M, Fukushima Y, Yokota S, Fukami T, Takamiya M, Aoki Y, Yokoi
            T and Nakajima M.
  TITLE     CYP2A7 pseudogene transcript affects CYP2A6 expression in human
            liver by acting as a decoy for miR-126
  JOURNAL   Drug Metab Dispos 43 (5), 703-712 (2015)
   PUBMED   25710939
  REMARK    GeneRIF: CYP2A7 affects CYP2A6 expression by competing for miR-126*
            binding.
REFERENCE   4  (bases 1 to 1760)
  AUTHORS   Chiang HC, Wang CK and Tsou TC.
  TITLE     Differential distribution of CYP2A6 and CYP2A13 in the human
            respiratory tract
  JOURNAL   Respiration 84 (4), 319-326 (2012)
   PUBMED   22890016
REFERENCE   5  (bases 1 to 1760)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   6  (bases 1 to 1760)
  AUTHORS   Koskela S, Hakkola J, Hukkanen J, Pelkonen O, Sorri M, Saranen A,
            Anttila S, Fernandez-Salguero P, Gonzalez F and Raunio H.
  TITLE     Expression of CYP2A genes in human liver and extrahepatic tissues
  JOURNAL   Biochem Pharmacol 57 (12), 1407-1413 (1999)
   PUBMED   10353262
REFERENCE   7  (bases 1 to 1760)
  AUTHORS   Fernandez-Salguero P, Hoffman SM, Cholerton S, Mohrenweiser H,
            Raunio H, Rautio A, Pelkonen O, Huang JD, Evans WE, Idle JR et al.
  TITLE     A genetic polymorphism in coumarin 7-hydroxylation: sequence of the
            human CYP2A genes and identification of variant CYP2A6 alleles
  JOURNAL   Am J Hum Genet 57 (3), 651-660 (1995)
   PUBMED   7668294
REFERENCE   8  (bases 1 to 1760)
  AUTHORS   Ding S, Lake BG, Friedberg T and Wolf CR.
  TITLE     Expression and alternative splicing of the cytochrome P-450 CYP2A7
  JOURNAL   Biochem J 306 (Pt 1) (Pt 1), 161-166 (1995)
   PUBMED   7864805
REFERENCE   9  (bases 1 to 1760)
  AUTHORS   Hakkola J, Pasanen M, Purkunen R, Saarikoski S, Pelkonen O, Maenpaa
            J, Rane A and Raunio H.
  TITLE     Expression of xenobiotic-metabolizing cytochrome P450 forms in human
            adult and fetal liver
  JOURNAL   Biochem Pharmacol 48 (1), 59-64 (1994)
   PUBMED   8043031
REFERENCE   10  (bases 1 to 1760)
  AUTHORS   Yamano S, Tatsuno J and Gonzalez FJ.
  TITLE     The CYP2A3 gene product catalyzes coumarin 7-hydroxylation in human
            liver microsomes
  JOURNAL   Biochemistry 29 (5), 1322-1329 (1990)
   PUBMED   2322567
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U22029.1, M33317.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000301146.9/ ENSP00000301146.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008537.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 11, 2020 this sequence version replaced NM_000764.2.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum; its substrate
            has not yet been determined. This gene, which produces two
            transcript variants, is part of a large cluster of cytochrome P450
            genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome
            19q. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1760
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1760
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /note="cytochrome P450 family 2 subfamily A member 7"
                     /db_xref="GeneID:1549"
                     /db_xref="HGNC:HGNC:2611"
                     /db_xref="MIM:608054"
     CDS             22..1506
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /EC_number="1.14.14.1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; cytochrome P450, subfamily IIA
                     (phenobarbital-inducible), polypeptide 7; cytochrome P450
                     2A7; cytochrome P450IIA4; cytochrome P450 IIA4; cytochrome
                     P450, family 2, subfamily A, polypeptide 7"
                     /codon_start=1
                     /product="cytochrome P450 2A7 isoform 1 precursor"
                     /protein_id="NP_000755.2"
                     /db_xref="CCDS:CCDS12569.1"
                     /db_xref="GeneID:1549"
                     /db_xref="HGNC:HGNC:2611"
                     /db_xref="MIM:608054"
                     /translation="MLASGLLLVALLACLTVMVLMSVWQQRKSRGKLPPGPTPLPFIGN
                     YLQLNTEHICDSIMKFSECYGPVFTIHLGPRRVVVLCGHDAVREALVDQAEEFSGRGEQ
                     ATFDWVFKGYGVAFSNGERAKQLLRFAIATLRDFGVGKRGIEERIQEESGFLIEAIRST
                     HGANIDPTFFLSRTVSNVISSIVFGDRFDYEDKEFLSLLSMMLGIFQFTSTSTGQLYEM
                     FSSVMKHLPGPQQQAFKLLQGLEDFIAKKVEHNQRTLDPNSPQDFIDSFLIHMQEEEKN
                     PNTEFYLKNLMMSTLNLFIAGTETVSTTLRYGFLLLMKHPEVEAKVHEEIDRVIGKNRQ
                     PKFEDRTKMPYMEAVIHEIQRFGDVIPMSLARRVKKDTKFRDFFLPKGTEVFPMLGSVL
                     RDPSFFSNPQDFNPQHFLDDKGQFKKSDAFVPFSIGKRNCFGEGLARMELFLFFTTVMQ
                     NFRLKSSQSPKDIDVSPKHVVFATIPRNYTMSFLPR"
     sig_peptide     22..84
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    1336..1338
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /note="heme binding site"
     regulatory      1736..1741
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /note="hexamer: AATAAT"
     polyA_site      1760
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /note="major polyA site"
ORIGIN
        1 atctgtcatc tcactaccac catgctggcc tcagggctgc ttctggtggc cttgctggcc
       61 tgcctgactg tgatggtctt gatgtctgtc tggcagcaga ggaagagcag ggggaagctg
      121 cctccgggac ccaccccact gcccttcatt ggaaactacc tccagctgaa cacagagcac
      181 atatgtgact ccatcatgaa gttcagtgag tgctatggcc ccgtgttcac cattcacttg
      241 gggccccggc gggtcgtggt gctgtgtgga catgatgccg tcagggaggc tctggtggac
      301 caggctgagg agttcagcgg gcgaggcgag caagccacct tcgactgggt cttcaaaggc
      361 tatggcgtgg cgttcagcaa cggggagcgc gccaagcagc tcctgcgctt tgccatcgcc
      421 accctgaggg acttcggggt gggcaagcga ggcatcgagg agcgcatcca ggaggagtcg
      481 ggcttcctca tcgaggccat ccggagcacg cacggcgcca atatcgatcc caccttcttc
      541 ctgagccgca cagtctccaa tgtcatcagc tccattgtct ttggggaccg ctttgactat
      601 gaggacaaag agttcctgtc actgctgagc atgatgctag gaatcttcca gttcacgtca
      661 acctccacgg ggcagctcta tgagatgttc tcttcggtga tgaaacacct gccaggacca
      721 cagcaacagg cctttaagtt gctgcaaggg ctggaggact tcatagccaa gaaggtggag
      781 cacaaccagc gcacgctgga tcccaattcc ccacaggact tcatcgactc ctttctcatc
      841 cacatgcagg aggaggagaa gaaccccaac acggagttct acttgaagaa cctgatgatg
      901 agcacgttga acctcttcat tgcaggcacc gagacggtca gcaccaccct gcgctatggc
      961 ttcttgctgc tcatgaagca cccagaggtg gaggccaagg tccatgagga gattgacaga
     1021 gtgatcggca agaaccggca gcccaagttt gaggaccgga ccaagatgcc ctacatggag
     1081 gcagtgatcc acgagatcca aagatttgga gacgtgatcc ccatgagttt ggcccgcagg
     1141 gttaaaaagg acaccaagtt tcgggatttt ttcctcccta agggcaccga agtgttccct
     1201 atgctgggct ccgtgctgag agaccccagc ttcttctcca accctcagga cttcaatccc
     1261 cagcatttcc tggatgacaa ggggcagttt aagaagagtg atgcttttgt gcccttttcc
     1321 atcggaaagc ggaactgttt cggagaaggc ctggccagaa tggagctctt tctcttcttc
     1381 accaccgtca tgcagaactt ccgcctcaag tcctcccagt cacctaagga cattgacgtg
     1441 tcccccaaac acgtggtctt tgccacgatc ccacgaaact acaccatgag cttcctgccc
     1501 cgctgagcga gggctgtgcc ggtgcaggtc tggtgggcgg ggccagggaa aggcggggtc
     1561 agggcggggt tcgcggaaga ggcgggtata agaatggggg gaagatgcgg gaaaggaagg
     1621 ggcgtggtgg ctagagggaa gagaagaaac agaagcggct cagttcacct tgataaggtg
     1681 cttccgagct gggatgagag gaagggaaac cttacattat gctatgaaga gtagtaataa
     1741 tagcagctct tatttcctga
//
LOCUS       NM_000765               2079 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens cytochrome P450 family 3 subfamily A member 7 (CYP3A7),
            mRNA.
ACCESSION   NM_000765
VERSION     NM_000765.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2079)
  AUTHORS   Qi G, Han C, Zhou Y and Wang X.
  TITLE     Allele and genotype frequencies of CYP3A4, CYP3A5, CYP3A7, and GSTP1
            gene polymorphisms among mainland Tibetan, Mongolian, Uyghur, and
            Han Chinese populations
  JOURNAL   Clin Exp Pharmacol Physiol 49 (2), 219-227 (2022)
   PUBMED   34689350
  REMARK    GeneRIF: Allele and genotype frequencies of CYP3A4, CYP3A5, CYP3A7,
            and GSTP1 gene polymorphisms among mainland Tibetan, Mongolian,
            Uyghur, and Han Chinese populations.
REFERENCE   2  (bases 1 to 2079)
  AUTHORS   Dong Y, Xu Q, Li R, Tao Y, Zhang Q, Li J, Ma Z, Shen C, Zhong M,
            Wang Z and Qiu X.
  TITLE     CYP3A7, CYP3A4, and CYP3A5 genetic polymorphisms in recipients
            rather than donors influence tacrolimus concentrations in the early
            stages after liver transplantation
  JOURNAL   Gene 809, 146007 (2022)
   PUBMED   34688813
  REMARK    GeneRIF: CYP3A7, CYP3A4, and CYP3A5 genetic polymorphisms in
            recipients rather than donors influence tacrolimus concentrations in
            the early stages after liver transplantation.
REFERENCE   3  (bases 1 to 2079)
  AUTHORS   Yamazoe Y and Tohkin M.
  TITLE     Development of template systems for ligand interactions of CYP3A5
            and CYP3A7 and their distinctions from CYP3A4 template
  JOURNAL   Drug Metab Pharmacokinet 38, 100357 (2021)
   PUBMED   33866277
  REMARK    GeneRIF: Development of template systems for ligand interactions of
            CYP3A5 and CYP3A7 and their distinctions from CYP3A4 template.
REFERENCE   4  (bases 1 to 2079)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   5  (bases 1 to 2079)
  AUTHORS   Finta C and Zaphiropoulos PG.
  TITLE     The human cytochrome P450 3A locus. Gene evolution by capture of
            downstream exons
  JOURNAL   Gene 260 (1-2), 13-23 (2000)
   PUBMED   11137287
REFERENCE   6  (bases 1 to 2079)
  AUTHORS   Itoh S, Yanagimoto T, Tagawa S, Hashimoto H, Kitamura R, Nakajima Y,
            Okochi T, Fujimoto S, Uchino J and Kamataki T.
  TITLE     Genomic organization of human fetal specific P-450IIIA7 (cytochrome
            P-450HFLa)-related gene(s) and interaction of transcriptional
            regulatory factor with its DNA element in the 5' flanking region
  JOURNAL   Biochim Biophys Acta 1130 (2), 133-138 (1992)
   PUBMED   1562592
REFERENCE   7  (bases 1 to 2079)
  AUTHORS   Komori M, Nishio K, Kitada M, Shiramatsu K, Muroya K, Soma M,
            Nagashima K and Kamataki T.
  TITLE     Fetus-specific expression of a form of cytochrome P-450 in human
            livers
  JOURNAL   Biochemistry 29 (18), 4430-4433 (1990)
   PUBMED   2350547
REFERENCE   8  (bases 1 to 2079)
  AUTHORS   Komori M, Nishio K, Fujitani T, Ohi H, Kitada M, Mima S, Itahashi K
            and Kamataki T.
  TITLE     Isolation of a new human fetal liver cytochrome P450 cDNA clone:
            evidence for expression of a limited number of forms of cytochrome
            P450 in human fetal livers
  JOURNAL   Arch Biochem Biophys 272 (1), 219-225 (1989)
   PUBMED   2786707
REFERENCE   9  (bases 1 to 2079)
  AUTHORS   Komori M, Nishio K, Ohi H, Kitada M and Kamataki T.
  TITLE     Molecular cloning and sequence analysis of cDNA containing the
            entire coding region for human fetal liver cytochrome P-450
  JOURNAL   J Biochem 105 (2), 161-163 (1989)
   PUBMED   2722762
REFERENCE   10  (bases 1 to 2079)
  AUTHORS   Wrighton SA and Vandenbranden M.
  TITLE     Isolation and characterization of human fetal liver cytochrome
            P450HLp2: a third member of the P450III gene family
  JOURNAL   Arch Biochem Biophys 268 (1), 144-151 (1989)
   PUBMED   2492179
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: D00408.1, BC069780.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968540
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000336374.4/ ENSP00000337450.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX643367.1, D00408.1,
            BX647143.1 and AC069294.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000765.4.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes, which participate in drug metabolism and
            the synthesis of cholesterol, steroids and other lipids. This
            enzyme hydroxylates testosterone and dehydroepiandrosterone
            3-sulphate, which is involved in the formation of estriol during
            pregnancy. This gene is part of a cluster of related genes on
            chromosome 7q21.1. Naturally-occurring readthrough transcription
            occurs between this gene and the downstream CYP3A51P pseudogene and
            is represented by GeneID:100861540. [provided by RefSeq, Jan 2015].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2079
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..2079
                     /gene="CYP3A7"
                     /gene_synonym="CP37; CYPIIIA7; P-450(HFL33); P-450111A7;
                     P450-HFLA; P450HLp2"
                     /note="cytochrome P450 family 3 subfamily A member 7"
                     /db_xref="GeneID:1551"
                     /db_xref="HGNC:HGNC:2640"
                     /db_xref="MIM:605340"
     misc_feature    86..88
                     /gene="CYP3A7"
                     /gene_synonym="CP37; CYPIIIA7; P-450(HFL33); P-450111A7;
                     P450-HFLA; P450HLp2"
                     /note="upstream in-frame stop codon"
     CDS             104..1615
                     /gene="CYP3A7"
                     /gene_synonym="CP37; CYPIIIA7; P-450(HFL33); P-450111A7;
                     P450-HFLA; P450HLp2"
                     /EC_number="1.14.14.1"
                     /note="aryl hydrocarbon hydroxylase; microsomal
                     monooxygenase; xenobiotic monooxygenase;
                     flavoprotein-linked monooxygenase; cytochrome P450,
                     subfamily IIIA, polypeptide 7; cytochrome P450-HFLA;
                     cytochrome P450, family 3, subfamily A, polypeptide 7"
                     /codon_start=1
                     /product="cytochrome P450 3A7"
                     /protein_id="NP_000756.3"
                     /db_xref="CCDS:CCDS5673.1"
                     /db_xref="GeneID:1551"
                     /db_xref="HGNC:HGNC:2640"
                     /db_xref="MIM:605340"
                     /translation="MDLIPNLAVETWLLLAVSLILLYLYGTRTHGLFKKLGIPGPTPLP
                     FLGNALSFRKGYWTFDMECYKKYRKVWGIYDCQQPMLAITDPDMIKTVLVKECYSVFTN
                     RRPFGPVGFMKNAISIAEDEEWKRIRSLLSPTFTSGKLKEMVPIIAQYGDVLVRNLRRE
                     AETGKPVTLKHVFGAYSMDVITSTSFGVSIDSLNNPQDPFVENTKKLLRFNPLDPFVLS
                     IKVFPFLTPILEALNITVFPRKVISFLTKSVKQIKEGRLKETQKHRVDFLQLMIDSQNS
                     KDSETHKALSDLELMAQSIIFIFAGYETTSSVLSFIIYELATHPDVQQKVQKEIDTVLP
                     NKAPPTYDTVLQLEYLDMVVNETLRLFPVAMRLERVCKKDVEINGMFIPKGVVVMIPSY
                     VLHHDPKYWTEPEKFLPERFSKKNKDNIDPYIYTPFGSGPRNCIGMRFALVNMKLALVR
                     VLQNFSFKPCKETQIPLKLRFGGLLLTEKPIVLKAESRDETVSGA"
     regulatory      1958..1963
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP3A7"
                     /gene_synonym="CP37; CYPIIIA7; P-450(HFL33); P-450111A7;
                     P450-HFLA; P450HLp2"
                     /note="hexamer: AATAAA"
     polyA_site      1989
                     /gene="CYP3A7"
                     /gene_synonym="CP37; CYPIIIA7; P-450(HFL33); P-450111A7;
                     P450-HFLA; P450HLp2"
     regulatory      2055..2060
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP3A7"
                     /gene_synonym="CP37; CYPIIIA7; P-450(HFL33); P-450111A7;
                     P450-HFLA; P450HLp2"
                     /note="hexamer: AATAAA"
     polyA_site      2079
                     /gene="CYP3A7"
                     /gene_synonym="CP37; CYPIIIA7; P-450(HFL33); P-450111A7;
                     P450-HFLA; P450HLp2"
                     /note="major polyA site"
ORIGIN
        1 actgctgtgc agggcaggaa agctccacac acacagccca gcaaacagca gcacgctgct
       61 gaaaaaaaga ctcagaggag agagataagg aaggaaagta gtgatggatc tcatcccaaa
      121 cttggccgtg gaaacctggc ttctcctggc tgtcagcctg atactcctct atctatatgg
      181 aacccgtaca catggacttt ttaagaagct tggaattcca gggcccacac ctctgccttt
      241 tttgggaaat gctttgtcct tccgtaaggg ctattggacg tttgacatgg aatgttataa
      301 aaagtataga aaagtctggg gtatttatga ctgtcaacag cctatgctgg ctatcacaga
      361 tcccgacatg atcaaaacag tgctagtgaa agaatgttat tctgtcttca caaaccggag
      421 gcctttcggg ccagtgggat ttatgaaaaa tgccatctct atagctgagg atgaagaatg
      481 gaagagaata cgatcattgc tgtctccaac attcaccagc ggaaaactca aggagatggt
      541 ccctatcatt gcccagtatg gagatgtgtt ggtgagaaat ctgaggcggg aagcagagac
      601 aggcaagcct gtcaccttga aacacgtctt tggggcctac agcatggatg tgatcactag
      661 cacatcattt ggagtgagca tcgactctct caacaatcca caagacccct ttgtggaaaa
      721 caccaagaag cttttaagat ttaatccatt agatccattc gttctctcaa taaaagtctt
      781 tccattcctt accccaattc ttgaagcatt aaatatcact gtgtttccaa gaaaagttat
      841 aagttttcta acaaaatctg taaaacagat aaaagaaggt cgcctcaaag agacacaaaa
      901 gcaccgagtg gatttccttc agctgatgat tgactctcag aattcaaaag actctgagac
      961 ccacaaagct ctgtctgatc tggagctcat ggcccaatca attatcttta tttttgctgg
     1021 ctatgaaacc acgagcagtg ttctctcctt cattatatat gaactggcca ctcaccctga
     1081 tgtccagcag aaagtgcaga aggaaattga tacagtttta cccaataagg caccacccac
     1141 ctatgatact gtgctacagt tggagtatct tgacatggtg gtgaatgaaa cactcagatt
     1201 attcccagtt gctatgagac ttgagagggt ctgcaaaaaa gatgttgaaa tcaatgggat
     1261 gtttattccc aaaggggtgg tggtgatgat tccaagctat gttcttcatc atgacccaaa
     1321 gtactggaca gagcctgaga agttcctccc tgaaaggttc agtaaaaaga acaaggacaa
     1381 catagatcct tacatataca caccctttgg aagtggaccc agaaactgca ttggcatgag
     1441 gtttgctctc gtgaacatga aacttgctct agtcagagtc cttcagaact tctccttcaa
     1501 accttgtaaa gaaacacaga tccccctgaa attacgcttt ggaggacttc ttctaacaga
     1561 aaaacccatt gttctaaagg ctgagtcaag ggatgagacc gtaagtggag cctgatttcc
     1621 ctaaggactt ctggtttgct ctttaagaaa gctgtgcccc agaacaccag agacctcaaa
     1681 ttactttaca aatagaaccc tgaaatgaag acgggcttca tccaatgtgc tgcataaata
     1741 atcagggatt ctgtacgtgc attgtgctct ctcatggtct gtatagagtg ttatacttgg
     1801 taatatagag gagatgacca aatcagtgct ggggaagtag atttggcttc tctgcttctc
     1861 ataggactat ctccaccacc cccagttagc accattaact cctcctgagc tctgataaca
     1921 taattaacat ttctcaataa tttcaaccac aatcattaat aaaaatagga attattttga
     1981 tggctctaac agtgacattt atatcatgtg ttatatctgt agtattctat agtaagcttt
     2041 atattaagca aatcaataaa aacctcttta caaaagtat
//
LOCUS       NM_000766               1760 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily A member 13
            (CYP2A13), mRNA.
ACCESSION   NM_000766
VERSION     NM_000766.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1760)
  AUTHORS   Vrzal R.
  TITLE     Genetic and Enzymatic Characteristics of CYP2A13 in Relation to Lung
            Damage
  JOURNAL   Int J Mol Sci 22 (22), 12306 (2021)
   PUBMED   34830188
  REMARK    GeneRIF: Genetic and Enzymatic Characteristics of CYP2A13 in
            Relation to Lung Damage. Review article Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 1760)
  AUTHORS   Juvonen RO, Jokinen EM, Huuskonen J, Karkkainen O, Raunio H and
            Pentikainen OT.
  TITLE     Molecular docking and oxidation kinetics of 3-phenyl coumarin
            derivatives by human CYP2A13
  JOURNAL   Xenobiotica 51 (11), 1207-1216 (2021)
   PUBMED   33703988
  REMARK    GeneRIF: Molecular docking and oxidation kinetics of 3-phenyl
            coumarin derivatives by human CYP2A13.
REFERENCE   3  (bases 1 to 1760)
  AUTHORS   Ma L, Jin G, Yang Y, Pang Y, Wang W, Zhang H, Liu J, Wu P, Wang Z,
            Wang K, Chang R, Li J and Zhu Z.
  TITLE     Association between CYP2A13 polymorphisms and lung cancer: A
            protocol for systematic review and meta-analysis
  JOURNAL   Medicine (Baltimore) 99 (50), e23289 (2020)
   PUBMED   33327254
  REMARK    GeneRIF: Association between CYP2A13 polymorphisms and lung cancer:
            A protocol for systematic review and meta-analysis.
REFERENCE   4  (bases 1 to 1760)
  AUTHORS   Hua F, Guo Y, Sun Q, Yang L and Gao F.
  TITLE     HapMap-based study: CYP2A13 may be a potential key metabolic enzyme
            gene in the carcinogenesis of lung cancer in non-smokers
  JOURNAL   Thorac Cancer 10 (4), 601-606 (2019)
   PUBMED   30807688
  REMARK    GeneRIF: Study provides evidence that CYP2A13 gene polymorphisms may
            be candidate biomarkers of lung cancer susceptibility in Chinese.
REFERENCE   5  (bases 1 to 1760)
  AUTHORS   Kim V, Yeom S, Lee Y, Park HG, Cho MA, Kim H and Kim D.
  TITLE     In vitro functional analysis of human cytochrome P450 2A13 genetic
            variants: P450 2A13*2, *3, *4, and *10
  JOURNAL   J Toxicol Environ Health A 81 (12), 493-501 (2018)
   PUBMED   29652224
  REMARK    GeneRIF: Functional analysis of variations in P450 2A13 allelic
            variants may help to understand the consequences of P450 2A13
            polymorphism in bioactivation of many tobacco-derived carcinogens.
REFERENCE   6  (bases 1 to 1760)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 1760)
  AUTHORS   Smith G, Stubbins MJ, Harries LW and Wolf CR.
  TITLE     Molecular genetics of the human cytochrome P450 monooxygenase
            superfamily
  JOURNAL   Xenobiotica 28 (12), 1129-1165 (1998)
   PUBMED   9890157
  REMARK    Review article
REFERENCE   8  (bases 1 to 1760)
  AUTHORS   Hoffman SM, Fernandez-Salguero P, Gonzalez FJ and Mohrenweiser HW.
  TITLE     Organization and evolution of the cytochrome P450 CYP2A-2B-2F
            subfamily gene cluster on human chromosome 19
  JOURNAL   J Mol Evol 41 (6), 894-900 (1995)
   PUBMED   8587134
REFERENCE   9  (bases 1 to 1760)
  AUTHORS   Fernandez-Salguero P, Hoffman SM, Cholerton S, Mohrenweiser H,
            Raunio H, Rautio A, Pelkonen O, Huang JD, Evans WE, Idle JR et al.
  TITLE     A genetic polymorphism in coumarin 7-hydroxylation: sequence of the
            human CYP2A genes and identification of variant CYP2A6 alleles
  JOURNAL   Am J Hum Genet 57 (3), 651-660 (1995)
   PUBMED   7668294
REFERENCE   10  (bases 1 to 1760)
  AUTHORS   Fernandez-Salguero P and Gonzalez FJ.
  TITLE     The CYP2A gene subfamily: species differences, regulation, catalytic
            activities and role in chemical carcinogenesis
  JOURNAL   Pharmacogenetics 5 Spec No, S123-S128 (1995)
   PUBMED   7581481
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF209774.1, AY513609.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968968, SAMEA2144333
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000330436.4/ ENSP00000332679.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008962.9, AF209774.1 and
            BM975825.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000766.4.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum. Although its
            endogenous substrate has not been determined, it is known to
            metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, a major
            nitrosamine specific to tobacco. This gene is part of a large
            cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F
            subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1760
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1760
                     /gene="CYP2A13"
                     /gene_synonym="CPAD; CYP2A; CYPIIA13"
                     /note="cytochrome P450 family 2 subfamily A member 13"
                     /db_xref="GeneID:1553"
                     /db_xref="HGNC:HGNC:2608"
                     /db_xref="MIM:608055"
     CDS             22..1506
                     /gene="CYP2A13"
                     /gene_synonym="CPAD; CYP2A; CYPIIA13"
                     /EC_number="1.14.14.1"
                     /note="cytochrome P450, subfamily IIA
                     (phenobarbital-inducible), polypeptide 13; cytochrome P450,
                     family 2, subfamily A, polypeptide 13"
                     /codon_start=1
                     /product="cytochrome P450 2A13"
                     /protein_id="NP_000757.2"
                     /db_xref="CCDS:CCDS12571.1"
                     /db_xref="GeneID:1553"
                     /db_xref="HGNC:HGNC:2608"
                     /db_xref="MIM:608055"
                     /translation="MLASGLLLVTLLACLTVMVLMSVWRQRKSRGKLPPGPTPLPFIGN
                     YLQLNTEQMYNSLMKISERYGPVFTIHLGPRRVVVLCGHDAVKEALVDQAEEFSGRGEQ
                     ATFDWLFKGYGVAFSNGERAKQLRRFSIATLRGFGVGKRGIEERIQEEAGFLIDALRGT
                     HGANIDPTFFLSRTVSNVISSIVFGDRFDYEDKEFLSLLRMMLGSFQFTATSTGQLYEM
                     FSSVMKHLPGPQQQAFKELQGLEDFIAKKVEHNQRTLDPNSPRDFIDSFLIRMQEEEKN
                     PNTEFYLKNLVMTTLNLFFAGTETVSTTLRYGFLLLMKHPEVEAKVHEEIDRVIGKNRQ
                     PKFEDRAKMPYTEAVIHEIQRFGDMLPMGLAHRVNKDTKFRDFFLPKGTEVFPMLGSVL
                     RDPRFFSNPRDFNPQHFLDKKGQFKKSDAFVPFSIGKRYCFGEGLARMELFLFFTTIMQ
                     NFRFKSPQSPKDIDVSPKHVGFATIPRNYTMSFLPR"
ORIGIN
        1 atctatcatc ccactgccac catgctggcc tcagggctgc ttctggtgac cttgctggcc
       61 tgcctgactg tgatggtctt gatgtcagtc tggcggcaga ggaagagcag ggggaagctg
      121 cctccgggac ccaccccatt gcccttcatt ggaaactacc tgcagctgaa cacagagcag
      181 atgtacaact ccctcatgaa gatcagtgag cgctatggcc ctgtgttcac cattcacttg
      241 gggccccggc gggtcgtggt gctgtgcgga catgatgccg tcaaggaggc tctggtggac
      301 caggctgagg agttcagcgg gcgaggcgag caggccacct tcgactggct cttcaaaggc
      361 tatggcgtgg cgttcagcaa cggggagcgc gccaagcagc tccggcgctt ctccatcgcc
      421 accctaaggg gttttggcgt gggcaagcgc ggcatcgagg aacgcatcca ggaggaggcg
      481 ggcttcctca tcgacgccct ccggggcacg cacggcgcca atatcgatcc caccttcttc
      541 ctgagccgca cagtctccaa tgtcatcagc tccattgtct ttggggaccg ctttgactat
      601 gaggacaaag agttcctgtc actgttgcgc atgatgctgg gaagcttcca gttcacggca
      661 acctccacgg ggcagctcta tgagatgttc tcttcggtga tgaaacacct gccaggacca
      721 cagcaacagg cctttaagga gctgcaaggg ctggaggact tcatcgccaa gaaggtggag
      781 cacaaccagc gcacgctgga tcccaattcc ccacgggact tcatcgactc ctttctcatc
      841 cgcatgcagg aggaggagaa gaaccccaac acagagttct acttgaagaa cctggtgatg
      901 accaccctga acctcttctt tgcgggcact gagaccgtga gcaccaccct gcgctacggt
      961 ttcctgctgc tcatgaagca cccagaggtg gaggccaagg tccatgagga gattgacaga
     1021 gtgatcggca agaaccggca gcccaagttt gaggaccggg ccaagatgcc ctacacagag
     1081 gcagtgatcc acgagatcca aagatttgga gacatgctcc ccatgggttt ggcccacagg
     1141 gtcaacaagg acaccaagtt tcgggatttc ttcctcccta agggcactga agtgttccct
     1201 atgctgggct ccgtgctgag agaccccagg ttcttctcca acccccggga cttcaatccc
     1261 cagcacttcc tggataagaa ggggcagttt aagaagagtg atgcttttgt gcccttttcc
     1321 atcggaaagc ggtactgttt tggagaaggc ctggccagaa tggagctctt tctcttcttc
     1381 accaccatca tgcagaactt tcgcttcaag tcccctcagt cgcctaagga tatcgacgtg
     1441 tcccccaaac acgtgggctt tgccacgatc ccacgaaact acaccatgag cttcctgccc
     1501 cgctgagcga gggctgtgct ggtgcagggc tggtgggcgg ggccagggaa acggccgggg
     1561 caggggcggg gcttgtggga ggggcggggc taagaatggg ggcagtgggg gaaggaaggg
     1621 gagaggtggt tagagggaac agaagaaaca gaaggggctc agttcacctt gatgatgtcc
     1681 ttcagagctg tgatgagagg aagggaaacc ttacagtatg ctacaaagag tagtaataat
     1741 agcagctctt atttcctgaa
//
LOCUS       NM_000767               3071 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily B member 6 (CYP2B6),
            mRNA.
ACCESSION   NM_000767
VERSION     NM_000767.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3071)
  AUTHORS   Pan X and Rowland Yeo K.
  TITLE     Physiologically Based Pharmacokinetic Modeling to Determine the
            Impact of CYP2B6 Genotype on Efavirenz Exposure in Children, Mothers
            and Breastfeeding Infants
  JOURNAL   Clin Pharmacol Ther 114 (1), 182-191 (2023)
   PUBMED   37078251
  REMARK    GeneRIF: Physiologically Based Pharmacokinetic Modeling to Determine
            the Impact of CYP2B6 Genotype on Efavirenz Exposure in Children,
            Mothers and Breastfeeding Infants.
REFERENCE   2  (bases 1 to 3071)
  AUTHORS   Obradovic B, Roberts O, Owen A, Milosevic I, Milic N, Ranin J and
            Dragovic G.
  TITLE     Expression of CYP2B6 Enzyme in Human Liver Tissue of HIV and HCV
            Patients
  JOURNAL   Medicina (Kaunas) 59 (7), 1207 (2023)
   PUBMED   37512019
  REMARK    GeneRIF: Expression of CYP2B6 Enzyme in Human Liver Tissue of HIV
            and HCV Patients. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3071)
  AUTHORS   Khavandegar A, Tavakoli-Far B, Ansari S, Veis-Karami P, Ghasemi F,
            Sheibaninia S, Jazayeri R and Houshmand M.
  TITLE     Allelic and Genotype Frequencies of CYP2B6 *2 (64C > T) and CYP2B6
            *3 (777C > A) in Three Dominant Ethnicities of the Iranian
            Population
  JOURNAL   Genet Res (Camb) 2023, 8283470 (2023)
   PUBMED   36817260
  REMARK    GeneRIF: Allelic and Genotype Frequencies of CYP2B6[ *]2 (64C > T)
            and CYP2B6[ *]3 (777C > A) in Three Dominant Ethnicities of the
            Iranian Population. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3071)
  AUTHORS   Heintz MM, Eccles JA, Olack EM, Maner-Smith KM, Ortlund EA and
            Baldwin WS.
  TITLE     Human CYP2B6 produces oxylipins from polyunsaturated fatty acids and
            reduces diet-induced obesity
  JOURNAL   PLoS One 17 (12), e0277053 (2022)
   PUBMED   36520866
  REMARK    GeneRIF: Human CYP2B6 produces oxylipins from polyunsaturated fatty
            acids and reduces diet-induced obesity. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 3071)
  AUTHORS   Ildirim N.
  TITLE     CYP2B6 SINGLE NUCLEOTIDE POLYMORPHISMS IN AN AZERBAIJANI POPULATION
  JOURNAL   Georgian Med News (330), 90-93 (2022)
   PUBMED   36427849
  REMARK    GeneRIF: CYP2B6 SINGLE NUCLEOTIDE POLYMORPHISMS IN AN AZERBAIJANI
            POPULATION.
REFERENCE   6  (bases 1 to 3071)
  AUTHORS   Fernandez-Salguero P, Hoffman SM, Cholerton S, Mohrenweiser H,
            Raunio H, Rautio A, Pelkonen O, Huang JD, Evans WE, Idle JR et al.
  TITLE     A genetic polymorphism in coumarin 7-hydroxylation: sequence of the
            human CYP2A genes and identification of variant CYP2A6 alleles
  JOURNAL   Am J Hum Genet 57 (3), 651-660 (1995)
   PUBMED   7668294
REFERENCE   7  (bases 1 to 3071)
  AUTHORS   Miles JS, McLaren AW, Gonzalez FJ and Wolf CR.
  TITLE     Alternative splicing in the human cytochrome P450IIB6 gene: use of a
            cryptic exon within intron 3 and splice acceptor site within exon 4
  JOURNAL   Nucleic Acids Res 18 (1), 189 (1990)
   PUBMED   2308828
REFERENCE   8  (bases 1 to 3071)
  AUTHORS   Miles JS, McLaren AW and Wolf CR.
  TITLE     Alternative splicing in the human cytochrome P450IIB6 gene generates
            a high level of aberrant messages
  JOURNAL   Nucleic Acids Res 17 (20), 8241-8255 (1989)
   PUBMED   2813061
REFERENCE   9  (bases 1 to 3071)
  AUTHORS   Yamano S, Nhamburo PT, Aoyama T, Meyer UA, Inaba T, Kalow W, Gelboin
            HV, McBride OW and Gonzalez FJ.
  TITLE     cDNA cloning and sequence and cDNA-directed expression of human P450
            IIB1: identification of a normal and two variant cDNAs derived from
            the CYP2B locus on chromosome 19 and differential expression of the
            IIB mRNAs in human liver
  JOURNAL   Biochemistry 28 (18), 7340-7348 (1989)
   PUBMED   2573390
REFERENCE   10  (bases 1 to 3071)
  AUTHORS   Miles JS, Spurr NK, Gough AC, Jowett T, McLaren AW, Brook JD and
            Wolf CR.
  TITLE     A novel human cytochrome P450 gene (P450IIB): chromosomal
            localization and evidence for alternative splicing
  JOURNAL   Nucleic Acids Res 16 (13), 5783-5795 (1988)
   PUBMED   2899870
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M29874.1, BC067431.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142348,
            SAMEA2145122 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000324071.10/ ENSP00000324648.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011541.7, BC067431.1 and
            AC023172.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 1, 2018 this sequence version replaced NM_000767.4.
            Summary: This gene, CYP2B6, encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum and its
            expression is induced by phenobarbital. The enzyme is known to
            metabolize some xenobiotics, such as the anti-cancer drugs
            cyclophosphamide and ifosphamide. Transcript variants for this gene
            have been described; however, it has not been resolved whether
            these transcripts are in fact produced by this gene or by a closely
            related pseudogene, CYP2B7. Both the gene and the pseudogene are
            located in the middle of a CYP2A pseudogene found in a large
            cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F
            subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3071
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..3071
                     /gene="CYP2B6"
                     /gene_synonym="CPB6; CYP2B; CYP2B7; CYP2B7P; CYPIIB6; EFVM;
                     IIB1; P450"
                     /note="cytochrome P450 family 2 subfamily B member 6"
                     /db_xref="GeneID:1555"
                     /db_xref="HGNC:HGNC:2615"
                     /db_xref="MIM:123930"
     CDS             25..1500
                     /gene="CYP2B6"
                     /gene_synonym="CPB6; CYP2B; CYP2B7; CYP2B7P; CYPIIB6; EFVM;
                     IIB1; P450"
                     /EC_number="1.14.14.1"
                     /note="cytochrome P450, subfamily IIB
                     (phenobarbital-inducible), polypeptide 6; cytochrome P450
                     2B6; cytochrome P450 IIB1; 1,4-cineole 2-exo-monooxygenase;
                     cytochrome P450, family 2, subfamily B, polypeptide 6"
                     /codon_start=1
                     /product="cytochrome P450 2B6 precursor"
                     /protein_id="NP_000758.1"
                     /db_xref="CCDS:CCDS12570.1"
                     /db_xref="GeneID:1555"
                     /db_xref="HGNC:HGNC:2615"
                     /db_xref="MIM:123930"
                     /translation="MELSVLLFLALLTGLLLLLVQRHPNTHDRLPPGPRPLPLLGNLLQ
                     MDRRGLLKSFLRFREKYGDVFTVHLGPRPVVMLCGVEAIREALVDKAEAFSGRGKIAMV
                     DPFFRGYGVIFANGNRWKVLRRFSVTTMRDFGMGKRSVEERIQEEAQCLIEELRKSKGA
                     LMDPTFLFQSITANIICSIVFGKRFHYQDQEFLKMLNLFYQTFSLISSVFGQLFELFSG
                     FLKYFPGAHRQVYKNLQEINAYIGHSVEKHRETLDPSAPKDLIDTYLLHMEKEKSNAHS
                     EFSHQNLNLNTLSLFFAGTETTSTTLRYGFLLMLKYPHVAERVYREIEQVIGPHRPPEL
                     HDRAKMPYTEAVIYEIQRFSDLLPMGVPHIVTQHTSFRGYIIPKDTEVFLILSTALHDP
                     HYFEKPDAFNPDHFLDANGALKKTEAFIPFSLGKRICLGEGIARAELFLFFTTILQNFS
                     MASPVAPEDIDLTPQECGVGKIPPTYQIRFLPR"
     sig_peptide     25..90
                     /gene="CYP2B6"
                     /gene_synonym="CPB6; CYP2B; CYP2B7; CYP2B7P; CYPIIB6; EFVM;
                     IIB1; P450"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    406..408
                     /gene="CYP2B6"
                     /gene_synonym="CPB6; CYP2B; CYP2B7; CYP2B7P; CYPIIB6; EFVM;
                     IIB1; P450"
                     /note="Phosphoserine, by PKA. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P20813.1);
                     phosphorylation site"
     regulatory      3036..3041
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2B6"
                     /gene_synonym="CPB6; CYP2B; CYP2B7; CYP2B7P; CYPIIB6; EFVM;
                     IIB1; P450"
                     /note="hexamer: AATAAA"
     polyA_site      3065
                     /gene="CYP2B6"
                     /gene_synonym="CPB6; CYP2B; CYP2B7; CYP2B7P; CYPIIB6; EFVM;
                     IIB1; P450"
                     /note="major polyA site"
ORIGIN
        1 gtgcagggca gtcagaccag gaccatggaa ctcagcgtcc tcctcttcct tgcactcctc
       61 acaggactct tgctactcct ggttcagcgc caccctaaca cccatgaccg cctcccacca
      121 gggccccgcc ctctgcccct tttgggaaac cttctgcaga tggatagaag aggcctactc
      181 aaatcctttc tgaggttccg agagaaatat ggggacgtct tcacggtaca cctgggaccg
      241 aggcccgtgg tcatgctgtg tggagtagag gccatacggg aggcccttgt ggacaaggct
      301 gaggccttct ctggccgggg aaaaatcgcc atggtcgacc cattcttccg gggatatggt
      361 gtgatctttg ccaatggaaa ccgctggaag gtgcttcggc gattctctgt gaccactatg
      421 agggacttcg ggatgggaaa gcggagtgtg gaggagcgga ttcaggagga ggctcagtgt
      481 ctgatagagg agcttcggaa atccaagggg gccctcatgg accccacctt cctcttccag
      541 tccattaccg ccaacatcat ctgctccatc gtctttggaa aacgattcca ctaccaagat
      601 caagagttcc tgaagatgct gaacttgttc taccagactt tttcactcat cagctctgta
      661 ttcggccagc tgtttgagct cttctctggc ttcttgaaat actttcctgg ggcacacagg
      721 caagtttaca aaaacctgca ggaaatcaat gcttacattg gccacagtgt ggagaagcac
      781 cgtgaaaccc tggaccccag cgcccccaag gacctcatcg acacctacct gctccacatg
      841 gaaaaagaga aatccaacgc acacagtgaa ttcagccacc agaacctcaa cctcaacacg
      901 ctctcgctct tctttgctgg cactgagacc accagcacca ctctccgcta cggcttcctg
      961 ctcatgctca aataccctca tgttgcagag agagtctaca gggagattga acaggtgatt
     1021 ggcccacatc gccctccaga gcttcatgac cgagccaaaa tgccatacac agaggcagtc
     1081 atctatgaga ttcagagatt ttccgacctt ctccccatgg gtgtgcccca cattgtcacc
     1141 caacacacca gcttccgagg gtacatcatc cccaaggaca cagaagtatt tctcatcctg
     1201 agcactgctc tccatgaccc acactacttt gaaaaaccag acgccttcaa tcctgaccac
     1261 tttctggatg ccaatggggc actgaaaaag actgaagctt ttatcccctt ctccttaggg
     1321 aagcggattt gtcttggtga aggcatcgcc cgtgcggaat tgttcctctt cttcaccacc
     1381 atcctccaga acttctccat ggccagcccc gtggccccag aagacatcga tctgacaccc
     1441 caggagtgtg gtgtgggcaa aataccccca acataccaga tccgcttcct gccccgctga
     1501 aggggctgag ggaagggggt caaaggattc cagggtcatt cagtgtcccc gcctctgtag
     1561 acaatggctc tgactccccg caacttcctg cctctgagag acctgctaca agccagcttc
     1621 cttcccctcc atggcaccag ttgtctgagg tcacattgca agtgagtgca ggagtgagat
     1681 tatcgaaaat tataatatac aaaatcatat atatatatat gttcttgttt tttgagacag
     1741 agtctcacac tgttgcccag gctggagtgc agtggcgtga tctcggctca ctgcaacctc
     1801 cacccccggg gatcaagcaa ctctcctgcc tcagcctccc tagtagctgg gattacaggc
     1861 atgcactacc acgcttggct aatttttgta tttttagtag agatggggtt tcactgtgta
     1921 ggccaggctg gtctcgaact cctgaactca agtgattcac ccaccttagc ctcccaaagt
     1981 gctgggatta caggcgtgag tcaccgtgcc cagccatgta tatatataat tttaaaaatt
     2041 aagctgaaat tcacataaca taaaattagc tgttttaaag tgtaaaattt agtggcgtgt
     2101 ggttcattca caaagctgta caaccaccac catctagttc caaacatttt ctttttttct
     2161 gagatggagt ctcactctgt cacccaggtt cgagttcagt ggtgccatct ctgtccactg
     2221 caacctccac atcctgggtt caagtgattc tcctgcctca gcctctggag gagctggtat
     2281 cacaggcgtc ccccaccacg cctggctaaa ttttgtattt ttaggtggtc ttgaactcct
     2341 gatgtcaggt gattctccta gctccaaatg ttttcattat ctctccccca acaaaaccca
     2401 tacctatcaa gctgtcactc cccatacccc attctctttt tcatctcggc ccctgtcaat
     2461 ctggtttttg tcactatgga cttaccaatt ctgaatattt cccataaaca gaatcataca
     2521 atatttgatt tttttttttt ttttgaaact aagccttgct ctgtctccca ggctggagtg
     2581 ctatggtgca atttttgttc actgcaacct ctgccttcca agatcaagag attctccagt
     2641 ctcagctccc aagtagctgg gattacaggc atgtactacc atgcctggct aattttcttg
     2701 tagttttagt agggacatgt tggccaggct ggtggtgagc tcctggcctc aggtgatcca
     2761 cccacctcag tgttccaaag tgctgatatt acaggcataa tatgtgatct tttgtgtctg
     2821 gttgctttca tgttgaatgc tatttttgag gttcatgcct gttgtagacc acagtcacac
     2881 actgctgtag tcttccccag tcctcattcc cagctgcctc ttcctactgc ttccgtctat
     2941 caaaaagccc ccttggccca ggttccctga gctgtgggat tctgcactgg tgctttggat
     3001 tccctgatat gttccttcaa atctgctgag aattaaataa acatctctaa agcctgacct
     3061 ccccacgtca a
//
LOCUS       NM_000769               4131 bp    mRNA    linear   PRI 27-JUN-2023
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily C member 19
            (CYP2C19), mRNA.
ACCESSION   NM_000769
VERSION     NM_000769.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4131)
  AUTHORS   Xie X, Johnston SC, Wang A, Xu Q, Bath PM, Pan Y, Li H, Lin J, Wang
            Y, Zhao X, Li Z, Jiang Y, Liu L, Xu A, Jing J, Meng X and Wang Y.
  TITLE     Association of CYP2C19 Loss-of-Function Metabolizer Status With
            Stroke Risk Among Chinese Patients Treated With Ticagrelor-Aspirin
            vs Clopidogrel-Aspirin: A Prespecified Secondary Analysis of a
            Randomized Clinical Trial
  JOURNAL   JAMA Netw Open 6 (6), e2317037 (2023)
   PUBMED   37279000
  REMARK    GeneRIF: Association of CYP2C19 Loss-of-Function Metabolizer Status
            With Stroke Risk Among Chinese Patients Treated With
            Ticagrelor-Aspirin vs Clopidogrel-Aspirin: A Prespecified Secondary
            Analysis of a Randomized Clinical Trial. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 4131)
  AUTHORS   Lee YC, Liao YC, Lin CJ and Chung CP.
  TITLE     Baseline P2Y12 reactivity, kidney function, and CYP2C19 genotype
            determine clopidogrel responsiveness in acute stroke
  JOURNAL   Sci Rep 13 (1), 8085 (2023)
   PUBMED   37208337
  REMARK    GeneRIF: Baseline P2Y12 reactivity, kidney function, and CYP2C19
            genotype determine clopidogrel responsiveness in acute stroke.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4131)
  AUTHORS   Cai N, Li C, Gu X, Zeng W, Zhong J, Liu J, Zeng G, Zhu J and Hong H.
  TITLE     CYP2C19 loss-of-function is associated with increased risk of
            hypertension in a Hakka population: a case-control study
  JOURNAL   BMC Cardiovasc Disord 23 (1), 185 (2023)
   PUBMED   37024851
  REMARK    GeneRIF: CYP2C19 loss-of-function is associated with increased risk
            of hypertension in a Hakka population: a case-control study.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4131)
  AUTHORS   Tantsura LM, Pylypets OY, Tretiakov DV and Tantsura YO.
  TITLE     VARIANTS OF THE FORMATION AND COURSE OF DRUG-RESISTANT EPILEPSY IN
            CHILDREN WITH GENETIC POLYMORPHISMS OF CYP2C9, CYP2C19, CYP3A4
  JOURNAL   Wiad Lek 76 (5 pt 1), 1007-1013 (2023)
   PUBMED   37326083
  REMARK    GeneRIF: VARIANTS OF THE FORMATION AND COURSE OF DRUG-RESISTANT
            EPILEPSY IN CHILDREN WITH GENETIC POLYMORPHISMS OF CYP2C9, CYP2C19,
            CYP3A4.
REFERENCE   5  (bases 1 to 4131)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   6  (bases 1 to 4131)
  AUTHORS   Goldstein JA and de Morais SM.
  TITLE     Biochemistry and molecular biology of the human CYP2C subfamily
  JOURNAL   Pharmacogenetics 4 (6), 285-299 (1994)
   PUBMED   7704034
  REMARK    Review article
REFERENCE   7  (bases 1 to 4131)
  AUTHORS   De Morais SM, Wilkinson GR, Blaisdell J, Meyer UA, Nakamura K and
            Goldstein JA.
  TITLE     Identification of a new genetic defect responsible for the
            polymorphism of (S)-mephenytoin metabolism in Japanese
  JOURNAL   Mol Pharmacol 46 (4), 594-598 (1994)
   PUBMED   7969038
REFERENCE   8  (bases 1 to 4131)
  AUTHORS   de Morais SM, Wilkinson GR, Blaisdell J, Nakamura K, Meyer UA and
            Goldstein JA.
  TITLE     The major genetic defect responsible for the polymorphism of
            S-mephenytoin metabolism in humans
  JOURNAL   J Biol Chem 269 (22), 15419-15422 (1994)
   PUBMED   8195181
REFERENCE   9  (bases 1 to 4131)
  AUTHORS   Romkes M, Faletto MB, Blaisdell JA, Raucy JL and Goldstein JA.
  TITLE     Cloning and expression of complementary DNAs for multiple members of
            the human cytochrome P450IIC subfamily
  JOURNAL   Biochemistry 30 (13), 3247-3255 (1991)
   PUBMED   2009263
  REMARK    Erratum:[Biochemistry. 1993 Feb 9;32(5):1390. PMID: 8095407]
REFERENCE   10  (bases 1 to 4131)
  AUTHORS   Meier UT and Meyer UA.
  TITLE     Genetic polymorphism of human cytochrome P-450 (S)-mephenytoin
            4-hydroxylase. Studies with human autoantibodies suggest a
            functionally altered cytochrome P-450 isozyme as cause of the
            genetic deficiency
  JOURNAL   Biochemistry 26 (25), 8466-8474 (1987)
   PUBMED   3442670
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.127101.1, M61854.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144835,
            SAMEA2145122 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371321.9/ ENSP00000360372.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB158473.1, M61854.1,
            CB161988.1 and AL133513.12.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 28, 2018 this sequence version replaced NM_000769.3.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum and is known to
            metabolize many xenobiotics, including the anticonvulsive drug
            mephenytoin, omeprazole, diazepam and some barbiturates.
            Polymorphism within this gene is associated with variable ability
            to metabolize mephenytoin, known as the poor metabolizer and
            extensive metabolizer phenotypes. The gene is located within a
            cluster of cytochrome P450 genes on chromosome 10q24. [provided by
            RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4131
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.33"
     gene            1..4131
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /note="cytochrome P450 family 2 subfamily C member 19"
                     /db_xref="GeneID:1557"
                     /db_xref="HGNC:HGNC:2621"
                     /db_xref="MIM:124020"
     misc_feature    5..7
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /note="upstream in-frame stop codon"
     CDS             26..1498
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /EC_number="1.14.14.1"
                     /EC_number="1.14.14.51"
                     /EC_number="1.14.14.52"
                     /EC_number="1.14.14.53"
                     /EC_number="1.14.14.75"
                     /note="microsomal monooxygenase; xenobiotic monooxygenase;
                     flavoprotein-linked monooxygenase; cytochrome P450,
                     subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19;
                     mephenytoin 4'-hydroxylase; cytochrome P450 2C19;
                     S-mephenytoin 4-hydroxylase; cytochrome P-450 II C;
                     cytochrome P450-11A; cytochrome P450-254C; (R)-limonene
                     6-monooxygenase; (S)-limonene 6-monooxygenase; (S)-limonene
                     7-monooxygenase; cytochrome P450, family 2, subfamily C,
                     polypeptide 19; fenbendazole monooxygenase
                     (4'-hydroxylating)"
                     /codon_start=1
                     /product="cytochrome P450 2C19 precursor"
                     /protein_id="NP_000760.1"
                     /db_xref="CCDS:CCDS7436.1"
                     /db_xref="GeneID:1557"
                     /db_xref="HGNC:HGNC:2621"
                     /db_xref="MIM:124020"
                     /translation="MDPFVVLVLCLSCLLLLSIWRQSSGRGKLPPGPTPLPVIGNILQI
                     DIKDVSKSLTNLSKIYGPVFTLYFGLERMVVLHGYEVVKEALIDLGEEFSGRGHFPLAE
                     RANRGFGIVFSNGKRWKEIRRFSLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTKASP
                     CDPTFILGCAPCNVICSIIFQKRFDYKDQQFLNLMEKLNENIRIVSTPWIQICNNFPTI
                     IDYFPGTHNKLLKNLAFMESDILEKVKEHQESMDINNPRDFIDCFLIKMEKEKQNQQSE
                     FTIENLVITAADLLGAGTETTSTTLRYALLLLLKHPEVTAKVQEEIERVIGRNRSPCMQ
                     DRGHMPYTDAVVHEVQRYIDLIPTSLPHAVTCDVKFRNYLIPKGTTILTSLTSVLHDNK
                     EFPNPEMFDPRHFLDEGGNFKKSNYFMPFSAGKRICVGEGLARMELFLFLTFILQNFNL
                     KSLIDPKDLDTTPVVNGFASVPPFYQLCFIPV"
     sig_peptide     26..100
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      1642..1647
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /note="hexamer: ATTAAA"
     polyA_site      1665
                     /gene="CYP2C19"
                     /gene_synonym="CPCJ; CYP2C; CYPIIC17; CYPIIC19; P450C2C;
                     P450IIC19"
                     /note="major polyA site"
ORIGIN
        1 gtcttaacaa gaggagaagg cttcaatgga tccttttgtg gtccttgtgc tctgtctctc
       61 atgtttgctt ctcctttcaa tctggagaca gagctctggg agaggaaaac tccctcctgg
      121 ccccactcct ctcccagtga ttggaaatat cctacagata gatattaagg atgtcagcaa
      181 atccttaacc aatctctcaa aaatctatgg ccctgtgttc actctgtatt ttggcctgga
      241 acgcatggtg gtgctgcatg gatatgaagt ggtgaaggaa gccctgattg atcttggaga
      301 ggagttttct ggaagaggcc atttcccact ggctgaaaga gctaacagag gatttggaat
      361 cgttttcagc aatggaaaga gatggaagga gatccggcgt ttctccctca tgacgctgcg
      421 gaattttggg atggggaaga ggagcattga ggaccgtgtt caagaggaag cccgctgcct
      481 tgtggaggag ttgagaaaaa ccaaggcttc accctgtgat cccactttca tcctgggctg
      541 tgctccctgc aatgtgatct gctccattat tttccagaaa cgtttcgatt ataaagatca
      601 gcaatttctt aacttgatgg aaaaattgaa tgaaaacatc aggattgtaa gcaccccctg
      661 gatccagata tgcaataatt ttcccactat cattgattat ttcccgggaa cccataacaa
      721 attacttaaa aaccttgctt ttatggaaag tgatattttg gagaaagtaa aagaacacca
      781 agaatcgatg gacatcaaca accctcggga ctttattgat tgcttcctga tcaaaatgga
      841 gaaggaaaag caaaaccaac agtctgaatt cactattgaa aacttggtaa tcactgcagc
      901 tgacttactt ggagctggga cagagacaac aagcacaacc ctgagatatg ctctccttct
      961 cctgctgaag cacccagagg tcacagctaa agtccaggaa gagattgaac gtgtcattgg
     1021 cagaaaccgg agcccctgca tgcaggacag gggccacatg ccctacacag atgctgtggt
     1081 gcacgaggtc cagagataca tcgacctcat ccccaccagc ctgccccatg cagtgacctg
     1141 tgacgttaaa ttcagaaact acctcattcc caagggcaca accatattaa cttccctcac
     1201 ttctgtgcta catgacaaca aagaatttcc caacccagag atgtttgacc ctcgtcactt
     1261 tctggatgaa ggtggaaatt ttaagaaaag taactacttc atgcctttct cagcaggaaa
     1321 acggatttgt gtgggagagg gcctggcccg catggagctg tttttattcc tgaccttcat
     1381 tttacagaac tttaacctga aatctctgat tgacccaaag gaccttgaca caactcctgt
     1441 tgtcaatgga tttgcttctg tcccgccctt ctatcagctg tgcttcattc ctgtctgaag
     1501 aagcacagat ggtctggctg ctcctgtgct gtccctgcag ctctctttcc tctggtccaa
     1561 atttcactat ctgtgatgct tcttctgacc cgtcatctca cattttccct tcccccaaga
     1621 tctagtgaac attcagcctc cattaaaaaa gtttcactgt gcaaatatat ctgctattcc
     1681 ccatactcta taatagttac attgagtgcc acataatgct gatacttgtc taatgttgag
     1741 ttattaacat attattatta aatagagaaa gatgatttgt gtattataat tcaaaggcat
     1801 ttcttctctg catgttctaa acaaaaagca ttattatttg ctgagtcagg ttattagacc
     1861 ttccttcctt tgtgcataat gcaggtgaca aattaaagaa aatagagttc caggaggcca
     1921 tgctggttct caaaacgata aggacagaaa ggacaaaggt gaagatggta gggaagctat
     1981 tttggctgag cattaccaaa atttagagtt acatgaggat tggatttgaa agtgagaaac
     2041 tgtgtccagg agcagctcca acctctaggg aaatattcag aggatcaggt attgggagga
     2101 atggatatta aatgttccac attggtgttc cttttttttt tttttttgag acaatgtctc
     2161 actctgtctc ccaggctgga gtgcagtggt gcaatctcgg ctcactgtaa ccttcgcctc
     2221 ccaggctcaa gagattctcc tgcctcagcc tcctgagtag ctgggattac agacacgtgc
     2281 caccatgcct ggctaatttt tttgtatttt tagtacagac agggtttcac catgttagcc
     2341 aggatgatct caatctgctg acctcctgat ctgcctgcct cagcctccca aagtgctggg
     2401 attacaggag tgagacactg tgcctggtct aatgttactt taaagtgtca ttactttatc
     2461 tctaaataaa gaatcaggtt acttttatta cttcatgttt ccaacttaga atgaagtaat
     2521 gaagtataaa tatatgcttt catattgctg ctcatgtgtt ttgtcatgct tctctcttca
     2581 aacatgaaca aaatttcttt tcttttttct tttttttttg aaatggagtc ccacttttgt
     2641 tccccaggct ggagtgcaat ggtgcgatct cggctcactg caatctccac ctcctggatt
     2701 caagtggttc tcctgcctca gccccccaag tagctgggat tacaggtgcc taccaccaca
     2761 ccaggctaat ttttgtattt ttagtagaga cagggtttca ctatgtgggc caggctagtc
     2821 ttgaactcct gacctcaagt gatccaccca cctcagcctc ccaaactgct gggcttacag
     2881 gcgtgagcca ctgcacctgg ctgaacaaaa tttctaagaa gaattaccag ggtttaatct
     2941 ttttcagctt ctcctatatt gttttagttt taacattagt gggatgataa ttttatgcta
     3001 ttgtcctaat ataattagcc tcatgtcatc tccaaagcat agacaactaa gtatcttatg
     3061 ttaaattatg ttcaccactc ttcctgtctt ctacttgaaa tgtaagaaat aagaagtaac
     3121 ataattgatt atgcttttca cagctcatct cctagaacaa gctacttaca atttggaata
     3181 catttaaaga taatatatgg gtacagatgt acatgtacat ctatgcatgt gtgtgtacat
     3241 tatgtgcatt cacacataat atatatatgt ataacttatg cacacataca tatagggtta
     3301 aatgtttatt tacaatattg ggctcatatc acacatcttg tattaaaact tgctattttc
     3361 ctaccaagta atatgccagc aaaacctcta aggtgataga aacataggca aataattcag
     3421 agagttaata gaagagaaag tggaaatggg tattacatta atggaaagat acagatggaa
     3481 attacacatt atacatttta aacattcttc attgggaaat gaaaatgtat taatgtagtg
     3541 ttagtagagg tgttgacaaa cacccatggg tgagataaat aaaaaagttg tctagtctgt
     3601 ttcctcctgg agactgtagt ggataatctg ttttcctgcc tatttcagct cctaaaggct
     3661 gcctgcattc cttggctcat gaactccttt ttctttcact ccaaacactt gcttcttttg
     3721 ttacatctcc tactcctact actcttattc tctctccctt atgtaaagac ccttgtgatt
     3781 acatgaaacc caccagtgta atctcttcat gtccagacat tatttagcct accatactat
     3841 tattataccc atttgaacaa ccaaacaatt gcactgatga tctgttaagc atcttgttca
     3901 aggtcacaca gctttttaag tgtcagagcc aacaattgga caagggcaat ctgactggaa
     3961 agtagaagtt gctaacaact ttgctaattc tctgcattta tttttattgt ttgtatttct
     4021 tccctaaaat acatatttca tatgagaaga gaactttatt tggctcacta atgaatacca
     4081 gccacctgaa acactgttta gaagatactg gctcaataaa tatttaatga a
//
LOCUS       NM_000770               1924 bp    mRNA    linear   PRI 11-JUN-2023
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily C member 8 (CYP2C8),
            transcript variant 1, mRNA.
ACCESSION   NM_000770
VERSION     NM_000770.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1924)
  AUTHORS   Lee YB, Kim V, Lee SG, Lee GH, Kim C, Jeong E and Kim D.
  TITLE     Functional Characterization of Allelic Variations of Human
            Cytochrome P450 2C8 (V181I, I244V, I331T, and L361F)
  JOURNAL   Int J Mol Sci 24 (9), 8032 (2023)
   PUBMED   37175734
  REMARK    GeneRIF: Functional Characterization of Allelic Variations of Human
            Cytochrome P450 2C8 (V181I, I244V, I331T, and L361F). Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1924)
  AUTHORS   Li Y, You C, Liu Z, He F, Zhao F, Song X, Xie Z, Wei S, Yang Y, Wei
            H, Che F and Yu J.
  TITLE     CYP2C8 and CYP2J2 gene variations increase the risk of hypertensive
            intracerebral hemorrhage
  JOURNAL   J Stroke Cerebrovasc Dis 32 (3), 106974 (2023)
   PUBMED   36587509
  REMARK    GeneRIF: CYP2C8 and CYP2J2 gene variations increase the risk of
            hypertensive intracerebral hemorrhage.
REFERENCE   3  (bases 1 to 1924)
  AUTHORS   Dalle Fratte C, Gagno S, Roncato R, Polesel J, Zanchetta M, Buzzo M,
            Posocco B, De Mattia E, Borsatti R, Puglisi F, Foltran L,
            Guardascione M, Buonadonna A, Cecchin E and Toffoli G.
  TITLE     CYP2D6 and CYP2C8 pharmacogenetics and pharmacological interactions
            to predict imatinib plasmatic exposure in GIST patients
  JOURNAL   Br J Clin Pharmacol 89 (3), 1089-1098 (2023)
   PUBMED   36178950
  REMARK    GeneRIF: CYP2D6 and CYP2C8 pharmacogenetics and pharmacological
            interactions to predict imatinib plasmatic exposure in GIST
            patients.
REFERENCE   4  (bases 1 to 1924)
  AUTHORS   Qu W, Zhang F, Cheng Y, Li J and Zhou J.
  TITLE     The impact of genetic variants in the CYP2C8 gene on bladder cancer
            susceptibility
  JOURNAL   Front Endocrinol (Lausanne) 13, 989030 (2022)
   PUBMED   36246885
  REMARK    GeneRIF: The impact of genetic variants in the CYP2C8 gene on
            bladder cancer susceptibility. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1924)
  AUTHORS   Muradian AA, Sychev DA, Blagovestnov DA, Petrov DI, Skukin DS,
            Epifanova IP, Sozaeva ZA, Kachanova AA, Denisenko NP, Abdullaev SP
            and Grishina EA.
  TITLE     [Evaluation of the association of polymorphisms of the CYP2C8 gene
            with the efficacy and safety of ketorolac in patients with
            postoperative pain syndrome]
  JOURNAL   Ter Arkh 94 (5), 610-615 (2022)
   PUBMED   36286958
  REMARK    GeneRIF: [Evaluation of the association of polymorphisms of the
            CYP2C8 gene with the efficacy and safety of ketorolac in patients
            with postoperative pain syndrome]. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1924)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 1924)
  AUTHORS   Romkes M, Faletto MB, Blaisdell JA, Raucy JL and Goldstein JA.
  TITLE     Cloning and expression of complementary DNAs for multiple members of
            the human cytochrome P450IIC subfamily
  JOURNAL   Biochemistry 30 (13), 3247-3255 (1991)
   PUBMED   2009263
  REMARK    Erratum:[Biochemistry. 1993 Feb 9;32(5):1390. PMID: 8095407]
REFERENCE   8  (bases 1 to 1924)
  AUTHORS   Ged C and Beaune P.
  TITLE     Isolation of the human cytochrome P-450 IIC8 gene: multiple
            glucocorticoid responsive elements in the 5' region
  JOURNAL   Biochim Biophys Acta 1088 (3), 433-435 (1991)
   PUBMED   1707679
REFERENCE   9  (bases 1 to 1924)
  AUTHORS   Kolyada AY.
  TITLE     Sequence of a human liver cytochrome P-450 cDNA clone
  JOURNAL   Nucleic Acids Res 18 (18), 5550 (1990)
   PUBMED   2216732
REFERENCE   10  (bases 1 to 1924)
  AUTHORS   Shephard EA, Phillips IR, Santisteban I, Palmer CN and Povey S.
  TITLE     Cloning, expression and chromosomal localization of a member of the
            human cytochrome P450IIC gene sub-family
  JOURNAL   Ann Hum Genet 53 (1), 23-31 (1989)
   PUBMED   2729895
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC020596.1, Y00498.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2162895,
            SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371270.6/ ENSP00000360317.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC020596.1, Y00498.1 and
            M21941.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 19, 2006 this sequence version replaced NM_000770.2.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum and its
            expression is induced by phenobarbital. The enzyme is known to
            metabolize many xenobiotics, including the anticonvulsive drug
            mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer
            drug taxol. This gene is located within a cluster of cytochrome
            P450 genes on chromosome 10q24. Several transcript variants
            encoding a few different isoforms have been found for this gene.
            [provided by RefSeq, Nov 2010].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1924
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.33"
     gene            1..1924
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYP2C8DM; CYPIIC8; MP-12/MP-20"
                     /note="cytochrome P450 family 2 subfamily C member 8"
                     /db_xref="GeneID:1558"
                     /db_xref="HGNC:HGNC:2622"
                     /db_xref="MIM:601129"
     misc_feature    78..80
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYP2C8DM; CYPIIC8; MP-12/MP-20"
                     /note="upstream in-frame stop codon"
     CDS             96..1568
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYP2C8DM; CYPIIC8; MP-12/MP-20"
                     /EC_number="1.14.14.1"
                     /note="isoform a precursor is encoded by transcript variant
                     1; microsomal monooxygenase; xenobiotic monooxygenase;
                     flavoprotein-linked monooxygenase; P450 form 1; cytochrome
                     P450, family 2, subfamily C, polypeptide 8; cytochrome
                     P450, subfamily IIC (mephenytoin 4-hydroxylase),
                     polypeptide 8; cytochrome P450 2C8; s-mephenytoin
                     4-hydroxylase; cytochrome P450 IIC2; cytochrome P450 MP-12;
                     cytochrome P450 MP-20; cytochrome P450 form 1"
                     /codon_start=1
                     /product="cytochrome P450 2C8 isoform a precursor"
                     /protein_id="NP_000761.3"
                     /db_xref="CCDS:CCDS7438.1"
                     /db_xref="GeneID:1558"
                     /db_xref="HGNC:HGNC:2622"
                     /db_xref="MIM:601129"
                     /translation="MEPFVVLVLCLSFMLLFSLWRQSCRRRKLPPGPTPLPIIGNMLQI
                     DVKDICKSFTNFSKVYGPVFTVYFGMNPIVVFHGYEAVKEALIDNGEEFSGRGNSPISQ
                     RITKGLGIISSNGKRWKEIRRFSLTTLRNFGMGKRSIEDRVQEEAHCLVEELRKTKASP
                     CDPTFILGCAPCNVICSVVFQKRFDYKDQNFLTLMKRFNENFRILNSPWIQVCNNFPLL
                     IDCFPGTHNKVLKNVALTRSYIREKVKEHQASLDVNNPRDFIDCFLIKMEQEKDNQKSE
                     FNIENLVGTVADLFVAGTETTSTTLRYGLLLLLKHPEVTAKVQEEIDHVIGRHRSPCMQ
                     DRSHMPYTDAVVHEIQRYSDLVPTGVPHAVTTDTKFRNYLIPKGTTIMALLTSVLHDDK
                     EFPNPNIFDPGHFLDKNGNFKKSDYFMPFSAGKRICAGEGLARMELFLFLTTILQNFNL
                     KSVDDLKNLNTTAVTKGIVSLPPSYQICFIPV"
     sig_peptide     96..173
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYP2C8DM; CYPIIC8; MP-12/MP-20"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    393..395
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYP2C8DM; CYPIIC8; MP-12/MP-20"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P10632.2); phosphorylation site"
     misc_feature    1398..1400
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYP2C8DM; CYPIIC8; MP-12/MP-20"
                     /note="heme binding site"
     regulatory      1896..1901
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYP2C8DM; CYPIIC8; MP-12/MP-20"
                     /note="hexamer: AATAAA"
     polyA_site      1924
                     /gene="CYP2C8"
                     /gene_synonym="CPC8; CYP2C8DM; CYPIIC8; MP-12/MP-20"
                     /note="major polyA site"
ORIGIN
        1 acatgtcaaa gagacacaca ctaaattagc agggagtgtt ataaaaactt tggagtgcaa
       61 gctcacagct gtcttaataa gaagagaagg cttcaatgga accttttgtg gtcctggtgc
      121 tgtgtctctc ttttatgctt ctcttttcac tctggagaca gagctgtagg agaaggaagc
      181 tccctcctgg ccccactcct cttcctatta ttggaaatat gctacagata gatgttaagg
      241 acatctgcaa atctttcacc aatttctcaa aagtctatgg tcctgtgttc accgtgtatt
      301 ttggcatgaa tcccatagtg gtgtttcatg gatatgaggc agtgaaggaa gccctgattg
      361 ataatggaga ggagttttct ggaagaggca attccccaat atctcaaaga attactaaag
      421 gacttggaat catttccagc aatggaaaga gatggaagga gatccggcgt ttctccctca
      481 caaccttgcg gaattttggg atggggaaga ggagcattga ggaccgtgtt caagaggaag
      541 ctcactgcct tgtggaggag ttgagaaaaa ccaaggcttc accctgtgat cccactttca
      601 tcctgggctg tgctccctgc aatgtgatct gctccgttgt tttccagaaa cgatttgatt
      661 ataaagatca gaattttctc accctgatga aaagattcaa tgaaaacttc aggattctga
      721 actccccatg gatccaggtc tgcaataatt tccctctact cattgattgt ttcccaggaa
      781 ctcacaacaa agtgcttaaa aatgttgctc ttacacgaag ttacattagg gagaaagtaa
      841 aagaacacca agcatcactg gatgttaaca atcctcggga ctttatcgat tgcttcctga
      901 tcaaaatgga gcaggaaaag gacaaccaaa agtcagaatt caatattgaa aacttggttg
      961 gcactgtagc tgatctattt gttgctggaa cagagacaac aagcaccact ctgagatatg
     1021 gactcctgct cctgctgaag cacccagagg tcacagctaa agtccaggaa gagattgatc
     1081 atgtaattgg cagacacagg agcccctgca tgcaggatag gagccacatg ccttacactg
     1141 atgctgtagt gcacgagatc cagagataca gtgaccttgt ccccaccggt gtgccccatg
     1201 cagtgaccac tgatactaag ttcagaaact acctcatccc caagggcaca accataatgg
     1261 cattactgac ttccgtgcta catgatgaca aagaatttcc taatccaaat atctttgacc
     1321 ctggccactt tctagataag aatggcaact ttaagaaaag tgactacttc atgcctttct
     1381 cagcaggaaa acgaatttgt gcaggagaag gacttgcccg catggagcta tttttatttc
     1441 taaccacaat tttacagaac tttaacctga aatctgttga tgatttaaag aacctcaata
     1501 ctactgcagt taccaaaggg attgtttctc tgccaccctc ataccagatc tgcttcatcc
     1561 ctgtctgaag aatgctagcc catctggctg ccgatctgct atcacctgca actctttttt
     1621 tatcaaggac attcccacta ttatgtcttc tctgacctct catcaaatct tcccattcac
     1681 tcaatatccc ataagcatcc aaactccatt aaggagagtt gttcaggtca ctgcacaaat
     1741 atatctgcaa ttattcatac tctgtaacac ttgtattaat tgctgcatat gctaatactt
     1801 ttctaatgct gactttttaa tatgttatca ctgtaaaaca cagaaaagtg attaatgaat
     1861 gataatttag atccatttct tttgtgaatg tgctaaataa aaagtgttat taattgctgg
     1921 ttca
//
LOCUS       NM_000771               2561 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily C member 9 (CYP2C9),
            mRNA.
ACCESSION   NM_000771
VERSION     NM_000771.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2561)
  AUTHORS   Giraldo-Ocampo S, Diaz-Ordonez L, Silva-Cuero YK, Gutierrez-Medina
            JD, Candelo E, Diaz JA and Pachajoa H.
  TITLE     Frequency of polymorphisms in the CYP2C9, VKORC1, and CYP4F2 genes
            related to the metabolism of Warfarin in healthy donors from Cali,
            Colombia
  JOURNAL   Medicine (Baltimore) 102 (30), e34204 (2023)
   PUBMED   37505171
  REMARK    GeneRIF: Frequency of polymorphisms in the CYP2C9, VKORC1, and
            CYP4F2 genes related to the metabolism of Warfarin in healthy donors
            from Cali, Colombia.
REFERENCE   2  (bases 1 to 2561)
  AUTHORS   Lezhava T, Kakauridze N, Jokhadze T, Buadze T, Gaiozishvili M,
            Gargulia K and Sigua T.
  TITLE     FREQUENCY OF VKORC1 AND CYP2C9 GENES POLYMORPHISM IN ABKHAZIAN
            POPULATION
  JOURNAL   Georgian Med News (338), 96-101 (2023)
   PUBMED   37419479
  REMARK    GeneRIF: FREQUENCY OF VKORC1 AND CYP2C9 GENES POLYMORPHISM IN
            ABKHAZIAN POPULATION.
REFERENCE   3  (bases 1 to 2561)
  AUTHORS   Alrajeh K, AlAzzeh O and Roman Y.
  TITLE     The frequency of major ABCG2, SLCO1B1 and CYP2C9 variants in Asian,
            Native Hawaiian and Pacific Islander women subgroups: implications
            for personalized statins dosing
  JOURNAL   Pharmacogenomics 24 (7), 381-398 (2023)
   PUBMED   37222158
  REMARK    GeneRIF: The frequency of major ABCG2, SLCO1B1 and CYP2C9 variants
            in Asian, Native Hawaiian and Pacific Islander women subgroups:
            implications for personalized statins dosing.
REFERENCE   4  (bases 1 to 2561)
  AUTHORS   Zhang Q, Qi Y, Wang S, Zhao F, Zou L, Zhou Q, Geng P, Hong Y, Yang
            H, Luo Q, Cai J, Wu H, Wang D, Chen H, Yang J and Dai D.
  TITLE     Identification and in vitro functional assessment of 10 CYP2C9
            variants found in Chinese Han subjects
  JOURNAL   Front Endocrinol (Lausanne) 14, 1139805 (2023)
   PUBMED   37008923
  REMARK    GeneRIF: Identification and in vitro functional assessment of 10
            CYP2C9 variants found in Chinese Han subjects. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 2561)
  AUTHORS   Tantsura LM, Pylypets OY, Tretiakov DV and Tantsura YO.
  TITLE     VARIANTS OF THE FORMATION AND COURSE OF DRUG-RESISTANT EPILEPSY IN
            CHILDREN WITH GENETIC POLYMORPHISMS OF CYP2C9, CYP2C19, CYP3A4
  JOURNAL   Wiad Lek 76 (5 pt 1), 1007-1013 (2023)
   PUBMED   37326083
  REMARK    GeneRIF: VARIANTS OF THE FORMATION AND COURSE OF DRUG-RESISTANT
            EPILEPSY IN CHILDREN WITH GENETIC POLYMORPHISMS OF CYP2C9, CYP2C19,
            CYP3A4.
REFERENCE   6  (bases 1 to 2561)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 2561)
  AUTHORS   Ohgiya S, Komori M, Ohi H, Shiramatsu K, Shinriki N and Kamataki T.
  TITLE     Six-base deletion occurring in messages of human cytochrome P-450 in
            the CYP2C subfamily results in reduction of tolbutamide hydroxylase
            activity
  JOURNAL   Biochem Int 27 (6), 1073-1081 (1992)
   PUBMED   1445376
REFERENCE   8  (bases 1 to 2561)
  AUTHORS   Srivastava PK, Yun CH, Beaune PH, Ged C and Guengerich FP.
  TITLE     Separation of human liver microsomal tolbutamide hydroxylase and
            (S)-mephenytoin 4'-hydroxylase cytochrome P-450 enzymes
  JOURNAL   Mol Pharmacol 40 (1), 69-79 (1991)
   PUBMED   1857342
REFERENCE   9  (bases 1 to 2561)
  AUTHORS   Romkes M, Faletto MB, Blaisdell JA, Raucy JL and Goldstein JA.
  TITLE     Cloning and expression of complementary DNAs for multiple members of
            the human cytochrome P450IIC subfamily
  JOURNAL   Biochemistry 30 (13), 3247-3255 (1991)
   PUBMED   2009263
  REMARK    Erratum:[Biochemistry. 1993 Feb 9;32(5):1390. PMID: 8095407]
REFERENCE   10  (bases 1 to 2561)
  AUTHORS   Veronese ME, Mackenzie PI, Doecke CJ, McManus ME, Miners JO and
            Birkett DJ.
  TITLE     Tolbutamide and phenytoin hydroxylations by cDNA-expressed human
            liver cytochrome P4502C9
  JOURNAL   Biochem Biophys Res Commun 175 (3), 1112-1118 (1991)
   PUBMED   2025243
  REMARK    Erratum:[Biochem Biophys Res Commun 1991 Nov 14;180(3);1527]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK289420.1, DRR138522.115622.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142586,
            SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000260682.8/ ENSP00000260682.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BJ993098.1, BC125054.1,
            S46963.1, CB162706.1, AL359672.19 and BG562738.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 10, 2018 this sequence version replaced NM_000771.3.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum and its
            expression is induced by rifampin. The enzyme is known to
            metabolize many xenobiotics, including phenytoin, tolbutamide,
            ibuprofen and S-warfarin. Studies identifying individuals who are
            poor metabolizers of phenytoin and tolbutamide suggest that this
            gene is polymorphic. The gene is located within a cluster of
            cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2561
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.33"
     gene            1..2561
                     /gene="CYP2C9"
                     /gene_synonym="CPC9; CYP2C; CYP2C10; CYPIIC9; P450-2C9;
                     P450IIC9"
                     /note="cytochrome P450 family 2 subfamily C member 9"
                     /db_xref="GeneID:1559"
                     /db_xref="HGNC:HGNC:2623"
                     /db_xref="MIM:601130"
     misc_feature    5..7
                     /gene="CYP2C9"
                     /gene_synonym="CPC9; CYP2C; CYP2C10; CYPIIC9; P450-2C9;
                     P450IIC9"
                     /note="upstream in-frame stop codon"
     CDS             26..1498
                     /gene="CYP2C9"
                     /gene_synonym="CPC9; CYP2C; CYP2C10; CYPIIC9; P450-2C9;
                     P450IIC9"
                     /EC_number="1.14.14.1"
                     /EC_number="1.14.14.51"
                     /EC_number="1.14.14.52"
                     /EC_number="1.14.14.53"
                     /note="microsomal monooxygenase; xenobiotic monooxygenase;
                     flavoprotein-linked monooxygenase; cytochrome P450 2C9;
                     cytochrome P-450 S-mephenytoin 4-hydroxylase; cytochrome
                     P-450MP; cytochrome P450 PB-1; cytochrome P450, family 2,
                     subfamily C, polypeptide 9"
                     /codon_start=1
                     /product="cytochrome P450 2C9 precursor"
                     /protein_id="NP_000762.2"
                     /db_xref="CCDS:CCDS7437.1"
                     /db_xref="GeneID:1559"
                     /db_xref="HGNC:HGNC:2623"
                     /db_xref="MIM:601130"
                     /translation="MDSLVVLVLCLSCLLLLSLWRQSSGRGKLPPGPTPLPVIGNILQI
                     GIKDISKSLTNLSKVYGPVFTLYFGLKPIVVLHGYEAVKEALIDLGEEFSGRGIFPLAE
                     RANRGFGIVFSNGKKWKEIRRFSLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTKASP
                     CDPTFILGCAPCNVICSIIFHKRFDYKDQQFLNLMEKLNENIKILSSPWIQICNNFSPI
                     IDYFPGTHNKLLKNVAFMKSYILEKVKEHQESMDMNNPQDFIDCFLMKMEKEKHNQPSE
                     FTIESLENTAVDLFGAGTETTSTTLRYALLLLLKHPEVTAKVQEEIERVIGRNRSPCMQ
                     DRSHMPYTDAVVHEVQRYIDLLPTSLPHAVTCDIKFRNYLIPKGTTILISLTSVLHDNK
                     EFPNPEMFDPHHFLDEGGNFKKSKYFMPFSAGKRICVGEALAGMELFLFLTSILQNFNL
                     KSLVDPKNLDTTPVVNGFASVPPFYQLCFIPV"
     sig_peptide     26..100
                     /gene="CYP2C9"
                     /gene_synonym="CPC9; CYP2C; CYP2C10; CYPIIC9; P450-2C9;
                     P450IIC9"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      1837..1842
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2C9"
                     /gene_synonym="CPC9; CYP2C; CYP2C10; CYPIIC9; P450-2C9;
                     P450IIC9"
                     /note="hexamer: AATAAA"
     polyA_site      1861
                     /gene="CYP2C9"
                     /gene_synonym="CPC9; CYP2C; CYP2C10; CYPIIC9; P450-2C9;
                     P450IIC9"
                     /note="major polyA site"
     regulatory      2114..2119
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2C9"
                     /gene_synonym="CPC9; CYP2C; CYP2C10; CYPIIC9; P450-2C9;
                     P450IIC9"
                     /note="hexamer: ATTAAA"
     polyA_site      2139
                     /gene="CYP2C9"
                     /gene_synonym="CPC9; CYP2C; CYP2C10; CYPIIC9; P450-2C9;
                     P450IIC9"
     regulatory      2541..2546
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2C9"
                     /gene_synonym="CPC9; CYP2C; CYP2C10; CYPIIC9; P450-2C9;
                     P450IIC9"
                     /note="hexamer: AATACA"
     polyA_site      2561
                     /gene="CYP2C9"
                     /gene_synonym="CPC9; CYP2C; CYP2C10; CYPIIC9; P450-2C9;
                     P450IIC9"
ORIGIN
        1 gtcttaacaa gaagagaagg cttcaatgga ttctcttgtg gtccttgtgc tctgtctctc
       61 atgtttgctt ctcctttcac tctggagaca gagctctggg agaggaaaac tccctcctgg
      121 ccccactcct ctcccagtga ttggaaatat cctacagata ggtattaagg acatcagcaa
      181 atccttaacc aatctctcaa aggtctatgg ccctgtgttc actctgtatt ttggcctgaa
      241 acccatagtg gtgctgcatg gatatgaagc agtgaaggaa gccctgattg atcttggaga
      301 ggagttttct ggaagaggca ttttcccact ggctgaaaga gctaacagag gatttggaat
      361 tgttttcagc aatggaaaga aatggaagga gatccggcgt ttctccctca tgacgctgcg
      421 gaattttggg atggggaaga ggagcattga ggaccgtgtt caagaggaag cccgctgcct
      481 tgtggaggag ttgagaaaaa ccaaggcctc accctgtgat cccactttca tcctgggctg
      541 tgctccctgc aatgtgatct gctccattat tttccataaa cgttttgatt ataaagatca
      601 gcaatttctt aacttaatgg aaaagttgaa tgaaaacatc aagattttga gcagcccctg
      661 gatccagatc tgcaataatt tttctcctat cattgattac ttcccgggaa ctcacaacaa
      721 attacttaaa aacgttgctt ttatgaaaag ttatattttg gaaaaagtaa aagaacacca
      781 agaatcaatg gacatgaaca accctcagga ctttattgat tgcttcctga tgaaaatgga
      841 gaaggaaaag cacaaccaac catctgaatt tactattgaa agcttggaaa acactgcagt
      901 tgacttgttt ggagctggga cagagacgac aagcacaacc ctgagatatg ctctccttct
      961 cctgctgaag cacccagagg tcacagctaa agtccaggaa gagattgaac gtgtgattgg
     1021 cagaaaccgg agcccctgca tgcaagacag gagccacatg ccctacacag atgctgtggt
     1081 gcacgaggtc cagagataca ttgaccttct ccccaccagc ctgccccatg cagtgacctg
     1141 tgacattaaa ttcagaaact atctcattcc caagggcaca accatattaa tttccctgac
     1201 ttctgtgcta catgacaaca aagaatttcc caacccagag atgtttgacc ctcatcactt
     1261 tctggatgaa ggtggcaatt ttaagaaaag taaatacttc atgcctttct cagcaggaaa
     1321 acggatttgt gtgggagaag ccctggccgg catggagctg tttttattcc tgacctccat
     1381 tttacagaac tttaacctga aatctctggt tgacccaaag aaccttgaca ccactccagt
     1441 tgtcaatgga tttgcctctg tgccgccctt ctaccagctg tgcttcattc ctgtctgaag
     1501 aagagcagat ggcctggctg ctgctgtgca gtccctgcag ctctctttcc tctggggcat
     1561 tatccatctt tcactatctg taatgccttt tctcacctgt catctcacat tttcccttcc
     1621 ctgaagatct agtgaacatt cgacctccat tacggagagt ttcctatgtt tcactgtgca
     1681 aatatatctg ctattctcca tactctgtaa cagttgcatt gactgtcaca taatgctcat
     1741 acttatctaa tgttgagtta ttaatatgtt attattaaat agagaaatat gatttgtgta
     1801 ttataattca aaggcatttc ttttctgcat gttctaaata aaaagcatta ttatttgctg
     1861 agtcagttta ttagaccttc cttcttttat gcataatgta ggtcagaaat taaagaaaat
     1921 agagttccag gaggccatgc tggttctcaa aatgataagg acagaaagga caaagaggaa
     1981 gagggtaggg aagctatttt gggtgagtgt tagagttact tgaggattgg atttgaaagt
     2041 gagaaactgt gtccaggggc agctctaacc tctagggaaa tattcagagg atcagtcaaa
     2101 gggtggaatg gacattaaat gctagaattc ttatatccac attggtgttc cttttttttt
     2161 gagacaaagt cttgctctgt cacccaggct ggagtgcagt ggtgtgatct cagctctcta
     2221 taacctccgc ctcccaggtt caagtgattc tcctgcctca gcctcctgag tagctgggat
     2281 tacaggtgca tgccaccaca cctggctaat tttttgtatt tttagtacag acgggttttc
     2341 accgtgttag ccaggatggt cttaatctcc tgaccttgtg atctgcctgc ctcagcctcc
     2401 caaagtgctg ggattacagg tgtgagccac tgcgcctggc ctggtgttac tttgaagtgt
     2461 cattacttta tctctaaata aagaatcaga ttacttttat tacttcatgt ttccaactta
     2521 gaatgatgta atgaagtata aatacatgct ttcatatcgc t
//
LOCUS       NM_000772               2310 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily C member 18
            (CYP2C18), transcript variant 1, mRNA.
ACCESSION   NM_000772
VERSION     NM_000772.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2310)
  AUTHORS   Braten LS, Haslemo T, Jukic MM, Ivanov M, Ingelman-Sundberg M,
            Molden E and Kringen MK.
  TITLE     A Novel CYP2C-Haplotype Associated With Ultrarapid Metabolism of
            Escitalopram
  JOURNAL   Clin Pharmacol Ther 110 (3), 786-793 (2021)
   PUBMED   33759177
  REMARK    GeneRIF: A Novel CYP2C-Haplotype Associated With Ultrarapid
            Metabolism of Escitalopram.
REFERENCE   2  (bases 1 to 2310)
  AUTHORS   Perera MA, Cavallari LH, Limdi NA, Gamazon ER, Konkashbaev A,
            Daneshjou R, Pluzhnikov A, Crawford DC, Wang J, Liu N, Tatonetti N,
            Bourgeois S, Takahashi H, Bradford Y, Burkley BM, Desnick RJ,
            Halperin JL, Khalifa SI, Langaee TY, Lubitz SA, Nutescu EA, Oetjens
            M, Shahin MH, Patel SR, Sagreiya H, Tector M, Weck KE, Rieder MJ,
            Scott SA, Wu AH, Burmester JK, Wadelius M, Deloukas P, Wagner MJ,
            Mushiroda T, Kubo M, Roden DM, Cox NJ, Altman RB, Klein TE, Nakamura
            Y and Johnson JA.
  TITLE     Genetic variants associated with warfarin dose in African-American
            individuals: a genome-wide association study
  JOURNAL   Lancet 382 (9894), 790-796 (2013)
   PUBMED   23755828
REFERENCE   3  (bases 1 to 2310)
  AUTHORS   Flachsbart F, Ufer M, Kleindorp R, Nikolaus S, Schreiber S and Nebel
            A.
  TITLE     Genetic variation in the CYP2C monooxygenase enzyme subfamily shows
            no association with longevity in a German population
  JOURNAL   J Gerontol A Biol Sci Med Sci 66 (11), 1186-1191 (2011)
   PUBMED   21798861
  REMARK    GeneRIF: These results suggest that there is no notable influence of
            sequence variation in the CYP2C genes on longevity in the examined
            German population
REFERENCE   4  (bases 1 to 2310)
  AUTHORS   Howard TD, Hsu FC, Grzywacz JG, Chen H, Quandt SA, Vallejos QM,
            Whalley LE, Cui W, Padilla S and Arcury TA.
  TITLE     Evaluation of candidate genes for cholinesterase activity in
            farmworkers exposed to organophosphorus pesticides: association of
            single nucleotide polymorphisms in BCHE
  JOURNAL   Environ Health Perspect 118 (10), 1395-1399 (2010)
   PUBMED   20529763
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 2310)
  AUTHORS   Liu CY, Wu MC, Chen F, Ter-Minassian M, Asomaning K, Zhai R, Wang Z,
            Su L, Heist RS, Kulke MH, Lin X, Liu G and Christiani DC.
  TITLE     A Large-scale genetic association study of esophageal adenocarcinoma
            risk
  JOURNAL   Carcinogenesis 31 (7), 1259-1263 (2010)
   PUBMED   20453000
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2310)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 2310)
  AUTHORS   Goldstein JA and de Morais SM.
  TITLE     Biochemistry and molecular biology of the human CYP2C subfamily
  JOURNAL   Pharmacogenetics 4 (6), 285-299 (1994)
   PUBMED   7704034
  REMARK    Review article
REFERENCE   8  (bases 1 to 2310)
  AUTHORS   Ged C and Beaune P.
  TITLE     Partial sequence and polymerase chain reaction-mediated analysis of
            expression of the human CYP2C18 gene
  JOURNAL   Pharmacogenetics 2 (3), 109-115 (1992)
   PUBMED   1306110
REFERENCE   9  (bases 1 to 2310)
  AUTHORS   Furuya H, Meyer UA, Gelboin HV and Gonzalez FJ.
  TITLE     Polymerase chain reaction-directed identification, cloning, and
            quantification of human CYP2C18 mRNA
  JOURNAL   Mol Pharmacol 40 (3), 375-382 (1991)
   PUBMED   1896026
REFERENCE   10  (bases 1 to 2310)
  AUTHORS   Romkes M, Faletto MB, Blaisdell JA, Raucy JL and Goldstein JA.
  TITLE     Cloning and expression of complementary DNAs for multiple members of
            the human cytochrome P450IIC subfamily
  JOURNAL   Biochemistry 30 (13), 3247-3255 (1991)
   PUBMED   2009263
  REMARK    Erratum:[Biochemistry. 1993 Feb 9;32(5):1390. PMID: 8095407]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M61853.1, M61856.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000285979.11/ ENSP00000285979.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M61856.1, BX538127.1 and
            M61853.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000772.2.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum but its
            specific substrate has not yet been determined. The gene is located
            within a cluster of cytochrome P450 genes on chromosome 10q24. An
            additional gene, CYP2C17, was once thought to exist; however,
            CYP2C17 is now considered an artefact based on a chimera of CYP2C18
            and CYP2C19. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2310
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.33"
     gene            1..2310
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /note="cytochrome P450 family 2 subfamily C member 18"
                     /db_xref="GeneID:1562"
                     /db_xref="HGNC:HGNC:2620"
                     /db_xref="MIM:601131"
     misc_feature    74..76
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /note="upstream in-frame stop codon"
     CDS             92..1564
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /EC_number="1.14.14.1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; microsomal monooxygenase; flavoprotein-linked
                     monooxygenase; cytochrome P450, subfamily IIC (mephenytoin
                     4-hydroxylase), polypeptide 18; cytochrome P450, subfamily
                     IIC (mephenytoin 4-hydroxylase), polypeptide 17; cytochrome
                     P450 2C18; (S)-mephenytoin hydroxylase associated
                     cytochrome P450; unspecific monooxygenase; CYPIIC18;
                     cytochrome P450-6B/29C; cytochrome P450, family 2,
                     subfamily C, polypeptide 18"
                     /codon_start=1
                     /product="cytochrome P450 2C18 isoform 1 precursor"
                     /protein_id="NP_000763.1"
                     /db_xref="CCDS:CCDS7435.1"
                     /db_xref="GeneID:1562"
                     /db_xref="HGNC:HGNC:2620"
                     /db_xref="MIM:601131"
                     /translation="MDPAVALVLCLSCLFLLSLWRQSSGRGRLPSGPTPLPIIGNILQL
                     DVKDMSKSLTNFSKVYGPVFTVYFGLKPIVVLHGYEAVKEALIDHGEEFSGRGSFPVAE
                     KVNKGLGILFSNGKRWKEIRRFCLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTNASP
                     CDPTFILGCAPCNVICSVIFHDRFDYKDQRFLNLMEKFNENLRILSSPWIQVCNNFPAL
                     IDYLPGSHNKIAENFAYIKSYVLERIKEHQESLDMNSARDFIDCFLIKMEQEKHNQQSE
                     FTVESLIATVTDMFGAGTETTSTTLRYGLLLLLKYPEVTAKVQEEIECVVGRNRSPCMQ
                     DRSHMPYTDAVVHEIQRYIDLLPTNLPHAVTCDVKFKNYLIPKGTTIITSLTSVLHNDK
                     EFPNPEMFDPGHFLDKSGNFKKSDYFMPFSAGKRMCMGEGLARMELFLFLTTILQNFNL
                     KSQVDPKDIDITPIANAFGRVPPLYQLCFIPV"
     sig_peptide     92..166
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      1867..1872
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /note="hexamer: AATAAA"
     polyA_site      1888
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /note="major polyA site"
     regulatory      2288..2293
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /note="hexamer: AATATA"
     polyA_site      2310
                     /gene="CYP2C18"
                     /gene_synonym="CPCI; CYP2C; CYP2C17; P450-6B/29C;
                     P450IIC17"
                     /note="major polyA site"
ORIGIN
        1 agagtcagaa tcacaggtgg attagtaggg agtgttataa aagccttgaa gtgaaagccc
       61 gcagttgtct tactaagaag agaagccttc aatggatcca gctgtggctc tggtgctctg
      121 tctctcctgt ttgtttctcc tttcactctg gaggcagagc tctggaagag ggaggctccc
      181 gtctggcccc actcctctcc cgattattgg aaatatcctg cagttagatg ttaaggacat
      241 gagcaaatcc ttaaccaatt tctcaaaagt ctatggccct gtgttcactg tgtattttgg
      301 cctgaagccc attgtggtgt tgcatggata tgaagcagtg aaggaggccc tgattgatca
      361 tggagaggag ttttctggaa gaggaagttt tccagtggct gaaaaagtta acaaaggact
      421 tggaatcctt ttcagcaatg gaaagagatg gaaggagatc cggcgtttct gcctcatgac
      481 tctgcggaat tttgggatgg ggaagaggag catcgaggac cgtgttcaag aggaagcccg
      541 ctgccttgtg gaggagttga gaaaaaccaa tgcctcaccc tgtgatccca ctttcatcct
      601 gggctgtgct ccctgcaatg tgatctgctc tgttattttc catgatcgat ttgattataa
      661 agatcagagg tttcttaact tgatggaaaa attcaatgaa aacctcagga ttctgagctc
      721 tccatggatc caggtctgca ataatttccc tgctctcatc gattatctcc caggaagtca
      781 taataaaata gctgaaaatt ttgcttacat taaaagttat gtattggaga gaataaaaga
      841 acatcaagaa tccctggaca tgaacagtgc tcgggacttt attgattgtt tcctgatcaa
      901 aatggaacag gaaaagcaca atcaacagtc tgaatttact gttgaaagct tgatagccac
      961 tgtaactgat atgtttgggg ctggaacaga gacaacgagc accactctga gatatggact
     1021 cctgctcctg ctgaagtacc cagaggtcac agctaaagtc caggaagaga ttgaatgtgt
     1081 agttggcaga aaccggagcc cctgtatgca ggacaggagt cacatgccct acacagatgc
     1141 tgtggtgcac gagatccaga gatacattga cctcctcccc accaacctgc cccatgcagt
     1201 gacctgtgat gttaaattca aaaactacct catccccaag ggcacgacca taataacatc
     1261 cctgacttct gtgctgcaca atgacaaaga attccccaac ccagagatgt ttgaccctgg
     1321 ccactttctg gataagagtg gcaactttaa gaaaagtgac tacttcatgc ctttctcagc
     1381 aggaaaacgg atgtgtatgg gagagggcct ggcccgcatg gagctgtttt tattcctgac
     1441 caccattttg cagaacttta acctgaaatc tcaggttgac ccaaaggata ttgacatcac
     1501 ccccattgcc aatgcatttg gtcgtgtgcc acccttgtac cagctctgct tcattcctgt
     1561 ctgaagaagg gcagatagtt tggctgctcc tgtgctgtca cctgcaattc tcccttatca
     1621 gggccattgg cctctccctt ctctctgtga gggatatttt ctctgacttg tcaatccaca
     1681 tcttcccatt ccctcaagat ccaatgaaca tccaacctcc attaaagaga gtttcttggg
     1741 tcacttccta aatatatctg ctattctcca tactctgtat cacttgtatt gaccaccaca
     1801 tatgctaata cctatctact gctgagttgt cagtatgtta tcactagaaa acaaagaaaa
     1861 atgattaata aatgacaatt cagagccatt tattctctgc atgctctaga taaaaatgat
     1921 tattatttac tgggtcagtt cttagatttc tttcttttga gtaaaatgaa agtaagaaat
     1981 gaaagaaaat agaatgtgaa gaggctgtgc tggccctcat agtgttaagc acaaaaaggg
     2041 agaaaggtaa gagggtagga aagctgtttt agctaaatgc cacctagagt tattggaggt
     2101 ctgaatttgg aaaaaaaaac tatgtccagg agcagctgta acctgtaggg aaatactgga
     2161 acaatcatcc ataagaggga tgaacattaa gtgtttgaat tcatgctctg cttttgtgtt
     2221 actgtaaaca caagatcaag atttggataa tctttttcct ttgtgtttcc aacttagatc
     2281 atgtctaaat atatgctttc atatggctaa
//
LOCUS       NM_000773               1674 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily E member 1 (CYP2E1),
            mRNA.
ACCESSION   NM_000773
VERSION     NM_000773.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1674)
  AUTHORS   Ishteyaque S, Yadav KS, Verma S, Washimkar KR and Mugale MN.
  TITLE     CYP2E1 triggered GRP78/ATF6/CHOP signaling axis inhibit apoptosis
            and promotes progression of hepatocellular carcinoma
  JOURNAL   Arch Biochem Biophys 745, 109701 (2023)
   PUBMED   37499993
  REMARK    GeneRIF: CYP2E1 triggered GRP78/ATF6/CHOP signaling axis inhibit
            apoptosis and promotes progression of hepatocellular carcinoma.
REFERENCE   2  (bases 1 to 1674)
  AUTHORS   Wei D, Tian X, Zhu L, Wang H and Sun C.
  TITLE     USP14 governs CYP2E1 to promote nonalcoholic fatty liver disease
            through deubiquitination and stabilization of HSP90AA1
  JOURNAL   Cell Death Dis 14 (8), 566 (2023)
   PUBMED   37633951
  REMARK    GeneRIF: USP14 governs CYP2E1 to promote nonalcoholic fatty liver
            disease through deubiquitination and stabilization of HSP90AA1.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1674)
  AUTHORS   Kukowka A, Brzuchalski B, Kurzawski M, Malinowski D and Bialecka MA.
  TITLE     ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of Fetal
            Alcohol Spectrum Disorder
  JOURNAL   Genes (Basel) 14 (7), 1392 (2023)
   PUBMED   37510297
  REMARK    GeneRIF: ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of
            Fetal Alcohol Spectrum Disorder. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1674)
  AUTHORS   Young KL, Olshan AF, Lunetta K, Graff M, Williams LA, Yao S, Zirpoli
            GR, Troester M and Palmer JR.
  TITLE     Influence of alcohol consumption and alcohol metabolism variants on
            breast cancer risk among Black women: results from the AMBER
            consortium
  JOURNAL   Breast Cancer Res 25 (1), 66 (2023)
   PUBMED   37308906
  REMARK    GeneRIF: Influence of alcohol consumption and alcohol metabolism
            variants on breast cancer risk among Black women: results from the
            AMBER consortium. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1674)
  AUTHORS   Pu Y, Liu Q, Hu K, Liu X, Bai H, Wu Y, Zhou M and Fan P.
  TITLE     CYP2E1 C-1054T and 96-bp I/D genetic variations and risk of
            gestational diabetes mellitus in chinese women: a case-control study
  JOURNAL   BMC Pregnancy Childbirth 23 (1), 403 (2023)
   PUBMED   37264354
  REMARK    GeneRIF: CYP2E1 C-1054T and 96-bp I/D genetic variations and risk of
            gestational diabetes mellitus in chinese women: a case-control
            study. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1674)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 1674)
  AUTHORS   Uematsu F, Kikuchi H, Abe T, Motomiya M, Ohmachi T, Sagami I and
            Watanabe M.
  TITLE     MspI polymorphism of the human CYP2E gene
  JOURNAL   Nucleic Acids Res 19 (20), 5797 (1991)
   PUBMED   1719479
REFERENCE   8  (bases 1 to 1674)
  AUTHORS   Hayashi S, Watanabe J and Kawajiri K.
  TITLE     Genetic polymorphisms in the 5'-flanking region change
            transcriptional regulation of the human cytochrome P450IIE1 gene
  JOURNAL   J Biochem 110 (4), 559-565 (1991)
   PUBMED   1778977
REFERENCE   9  (bases 1 to 1674)
  AUTHORS   Robinson RC, Shorr RG, Varrichio A, Park SS, Gelboin HV, Miller H
            and Friedman FK.
  TITLE     Human liver cytochrome P-450 related to a rat acetone-inducible,
            nitrosamine-metabolizing cytochrome P-450: identification and
            isolation
  JOURNAL   Pharmacology 39 (3), 137-144 (1989)
   PUBMED   2587619
REFERENCE   10  (bases 1 to 1674)
  AUTHORS   Umeno M, McBride OW, Yang CS, Gelboin HV and Gonzalez FJ.
  TITLE     Human ethanol-inducible P450IIE1: complete gene sequence, promoter
            characterization, chromosome mapping, and cDNA-directed expression
  JOURNAL   Biochemistry 27 (25), 9006-9013 (1988)
   PUBMED   3233219
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.139659.1,
            SRR5189664.122132.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000252945.8/ ENSP00000252945.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX951478.1, J02625.1 and
            AL161645.14.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000773.3.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum and is induced
            by ethanol, the diabetic state, and starvation. The enzyme
            metabolizes both endogenous substrates, such as ethanol, acetone,
            and acetal, as well as exogenous substrates including benzene,
            carbon tetrachloride, ethylene glycol, and nitrosamines which are
            premutagens found in cigarette smoke. Due to its many substrates,
            this enzyme may be involved in such varied processes as
            gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided
            by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1674
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.3"
     gene            1..1674
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /note="cytochrome P450 family 2 subfamily E member 1"
                     /db_xref="GeneID:1571"
                     /db_xref="HGNC:HGNC:2631"
                     /db_xref="MIM:124040"
     CDS             34..1515
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /EC_number="1.14.14.1"
                     /EC_number="1.14.13.n7"
                     /note="microsomal monooxygenase; xenobiotic monooxygenase;
                     flavoprotein-linked monooxygenase; cytochrome P450,
                     subfamily IIE (ethanol-inducible), polypeptide 1;
                     cytochrome P450 2E1; CYPIIE1; cytochrome P450-J;
                     4-nitrophenol 2-hydroxylase; cytochrome P450, family 2,
                     subfamily E, polypeptide 1"
                     /codon_start=1
                     /product="cytochrome P450 2E1 precursor"
                     /protein_id="NP_000764.1"
                     /db_xref="CCDS:CCDS7686.1"
                     /db_xref="GeneID:1571"
                     /db_xref="HGNC:HGNC:2631"
                     /db_xref="MIM:124040"
                     /translation="MSALGVTVALLVWAAFLLLVSMWRQVHSSWNLPPGPFPLPIIGNL
                     FQLELKNIPKSFTRLAQRFGPVFTLYVGSQRMVVMHGYKAVKEALLDYKDEFSGRGDLP
                     AFHAHRDRGIIFNNGPTWKDIRRFSLTTLRNYGMGKQGNESRIQREAHFLLEALRKTQG
                     QPFDPTFLIGCAPCNVIADILFRKHFDYNDEKFLRLMYLFNENFHLLSTPWLQLYNNFP
                     SFLHYLPGSHRKVIKNVAEVKEYVSERVKEHHQSLDPNCPRDLTDCLLVEMEKEKHSAE
                     RLYTMDGITVTVADLFFAGTETTSTTLRYGLLILMKYPEIEEKLHEEIDRVIGPSRIPA
                     IKDRQEMPYMDAVVHEIQRFITLVPSNLPHEATRDTIFRGYLIPKGTVVVPTLDSVLYD
                     NQEFPDPEKFKPEHFLNENGKFKYSDYFKPFSTGKRVCAGEGLARMELFLLLCAILQHF
                     NLKPLVDPKDIDLSPIHIGFGCIPPRYKLCVIPRS"
     sig_peptide     34..117
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    1342..1344
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /note="heme binding site"
     polyA_site      1636
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
     regulatory      1644..1649
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /note="hexamer: AATAAA"
     polyA_site      1645
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /note="major polyA site"
ORIGIN
        1 ctcccgggct ggcagcaggg ccccagcggc accatgtctg ccctcggagt caccgtggcc
       61 ctgctggtgt gggcggcctt cctcctgctg gtgtccatgt ggaggcaggt gcacagcagc
      121 tggaatctgc ccccaggccc tttcccgctt cccatcatcg ggaacctctt ccagttggaa
      181 ttgaagaata ttcccaagtc cttcacccgg ttggcccagc gcttcgggcc ggtgttcacg
      241 ctgtacgtgg gctcgcagcg catggtggtg atgcacggct acaaggcggt gaaggaagcg
      301 ctgctggact acaaggacga gttctcgggc agaggcgacc tccccgcgtt ccatgcgcac
      361 agggacaggg gaatcatttt taataatgga cctacctgga aggacatccg gcggttttcc
      421 ctgaccaccc tccggaacta tgggatgggg aaacagggca atgagagccg gatccagagg
      481 gaggcccact tcctgctgga agcactcagg aagacccaag gccagccttt cgaccccacc
      541 ttcctcatcg gctgcgcgcc ctgcaacgtc atagccgaca tcctcttccg caagcatttt
      601 gactacaatg atgagaagtt tctaaggctg atgtatttgt ttaatgagaa cttccaccta
      661 ctcagcactc cctggctcca gctttacaat aattttccca gctttctaca ctacttgcct
      721 ggaagccaca gaaaagtcat aaaaaatgtg gctgaagtaa aagagtatgt gtctgaaagg
      781 gtgaaggagc accatcaatc tctggacccc aactgtcccc gggacctcac cgactgcctg
      841 ctcgtggaaa tggagaagga aaagcacagt gcagagcgct tgtacacaat ggacggtatc
      901 accgtgactg tggccgacct gttctttgcg gggacagaga ccaccagcac aactctgaga
      961 tatgggctcc tgattctcat gaaataccct gagatcgaag agaagctcca tgaagaaatt
     1021 gacagggtga ttgggccaag ccgaatccct gccatcaagg ataggcaaga gatgccctac
     1081 atggatgctg tggtgcatga gattcagcgg ttcatcaccc tcgtgccctc caacctgccc
     1141 catgaagcaa cccgagacac cattttcaga ggatacctca tccccaaggg cacagtcgta
     1201 gtgccaactc tggactctgt tttgtatgac aaccaagaat ttcctgatcc agaaaagttt
     1261 aagccagaac acttcctgaa tgaaaatgga aagttcaagt acagtgacta tttcaagcca
     1321 ttttccacag gaaaacgagt gtgtgctgga gaaggcctgg ctcgcatgga gttgtttctt
     1381 ttgttgtgtg ccattttgca gcattttaat ttgaagcctc tcgttgaccc aaaggatatc
     1441 gacctcagcc ctatacatat tgggtttggc tgtatcccac cacgttacaa actctgtgtc
     1501 attccccgct catgagtgtg tggaggacac cctgaacccc ccgctttcaa acaagttttc
     1561 aaattgtttg aggtcaggat ttctcaaact gattcctttc tttgcatatg agtatttgaa
     1621 aataaatatt ttcccagaat ataaataaat catcacatga ttattttaac tata
//
LOCUS       NM_000774               1847 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily F member 1 (CYP2F1),
            transcript variant 1, mRNA.
ACCESSION   NM_000774
VERSION     NM_000774.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1847)
  AUTHORS   Antonenko P, Butov D, Kresyun V, Antonenko K and Butova T.
  TITLE     Association between effectiveness of tuberculosis treatment and
            cytochrome P-4502E1 polymorphism of the patients
  JOURNAL   Int J Mycobacteriol 6 (4), 396-400 (2017)
   PUBMED   29171455
  REMARK    GeneRIF: Polymorphism of cytochrome P-4502E1 (CYP2E1) genotype is an
            important criterion for the development of hepatotoxicity before and
            during TB treatment.
REFERENCE   2  (bases 1 to 1847)
  AUTHORS   Wei Y, Wu H, Li L, Liu Z, Zhou X, Zhang QY, Weng Y, D'Agostino J,
            Ling G, Zhang X, Kluetzman K, Yao Y and Ding X.
  TITLE     Generation and characterization of a CYP2A13/2B6/2F1-transgenic
            mouse model
  JOURNAL   Drug Metab Dispos 40 (6), 1144-1150 (2012)
   PUBMED   22397853
  REMARK    GeneRIF: Tissue distribution of transgenic mRNA expression agrees
            well with the known respiratory tract-selective expression of
            CYP2A13 and CYP2F1 and hepatic expression of CYP2B6 in humans.
REFERENCE   3  (bases 1 to 1847)
  AUTHORS   Akhmadishina,L.A., Korytina,G.F. and Victorova,T.V.
  TITLE     [Polymorphic markers of the CYP1B1 (4326C > G), CYP2F1
            (c.14_15insC), CYP2J2 (-76G > T), and CYP2S1 (13106C > T and 13255A
            > G) genes and genetic predisposition to chronic respiratory
            diseases induced by smoking and occupational factors]
  JOURNAL   Genetika 47 (10), 1402-1410 (2011)
   PUBMED   22232929
  REMARK    GeneRIF: Patients with occupational chronic bronchitis and healthy
            workers significantly differed from each other in the frequency
            distribution of the genotypes ofthe CYP2F1 (rs11399890, c.14_15insC
REFERENCE   4  (bases 1 to 1847)
  AUTHORS   Korytina,G.F., Akhmadishina,L.Z. and Viktorova,T.V.
  TITLE     [The CYP1B1 and CYP2F1 genes polymorphisms frequency in three ethnic
            groups of Bashkortostan and chronic obstructive pulmonary disease
            patients]
  JOURNAL   Mol Biol (Mosk) 44 (1), 33-41 (2010)
   PUBMED   20198857
  REMARK    GeneRIF: Association analysis of CYP2F1 gene insertion variant with
            chronic obstructive pulmonary disease have shown high frequency
            (87.5%) of normal allele in Tatars patients with very severe stage
            and manifestation of chronic obstructive pulmonary disease. GeneRIF:
            Observational study of gene-disease association. (HuGE Navigator)
REFERENCE   5  (bases 1 to 1847)
  AUTHORS   Saito A, Kawamoto M and Kamatani N.
  TITLE     Association study between single-nucleotide polymorphisms in 199
            drug-related genes and commonly measured quantitative traits of 752
            healthy Japanese subjects
  JOURNAL   J Hum Genet 54 (6), 317-323 (2009)
   PUBMED   19343046
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 1847)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 1847)
  AUTHORS   Hoffman SM, Fernandez-Salguero P, Gonzalez FJ and Mohrenweiser HW.
  TITLE     Organization and evolution of the cytochrome P450 CYP2A-2B-2F
            subfamily gene cluster on human chromosome 19
  JOURNAL   J Mol Evol 41 (6), 894-900 (1995)
   PUBMED   8587134
REFERENCE   8  (bases 1 to 1847)
  AUTHORS   Trask B, Fertitta A, Christensen M, Youngblom J, Bergmann A,
            Copeland A, de Jong P, Mohrenweiser H, Olsen A, Carrano A et al.
  TITLE     Fluorescence in situ hybridization mapping of human chromosome 19:
            cytogenetic band location of 540 cosmids and 70 genes or DNA markers
  JOURNAL   Genomics 15 (1), 133-145 (1993)
   PUBMED   8432525
REFERENCE   9  (bases 1 to 1847)
  AUTHORS   Bale AE, Mitchell AL, Gonzalez FJ and McBride OW.
  TITLE     Localization of CYP2F1 by multipoint linkage analysis and
            pulsed-field gel electrophoresis
  JOURNAL   Genomics 10 (1), 284-286 (1991)
   PUBMED   2045106
REFERENCE   10  (bases 1 to 1847)
  AUTHORS   Nhamburo PT, Kimura S, McBride OW, Kozak CA, Gelboin HV and Gonzalez
            FJ.
  TITLE     The human CYP2F gene subfamily: identification of a cDNA encoding a
            new cytochrome P450, cDNA-directed expression, and chromosome
            mapping
  JOURNAL   Biochemistry 29 (23), 5491-5499 (1990)
   PUBMED   1974816
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: J02906.1, BC109057.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144333,
            SAMEA2158569 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000331105.7/ ENSP00000333534.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC413790.1, BC109057.1 and
            CB853363.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000774.4.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum and is known to
            dehydrogenate 3-methylindole, an endogenous toxin derived from the
            fermentation of tryptophan, as well as xenobiotic substrates such
            as naphthalene and ethoxycoumarin. This gene is part of a large
            cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F
            subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1847
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1847
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /note="cytochrome P450 family 2 subfamily F member 1"
                     /db_xref="GeneID:1572"
                     /db_xref="HGNC:HGNC:2632"
                     /db_xref="MIM:124070"
     misc_feature    25..27
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /note="upstream in-frame stop codon"
     CDS             73..1548
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /EC_number="1.14.14.1"
                     /note="microsomal monooxygenase; xenobiotic monooxygenase;
                     flavoprotein-linked monooxygenase; cytochrome P450,
                     subfamily IIF, polypeptide 1; cytochrome P450 2F1;
                     cytochrome P450, family 2, subfamily F, polypeptide 1"
                     /codon_start=1
                     /product="cytochrome P450 2F1 precursor"
                     /protein_id="NP_000765.2"
                     /db_xref="CCDS:CCDS12572.1"
                     /db_xref="GeneID:1572"
                     /db_xref="HGNC:HGNC:2632"
                     /db_xref="MIM:124070"
                     /translation="MDSISTAILLLLLALVCLLLTLSSRDKGKLPPGPRPLSILGNLLL
                     LCSQDMLTSLTKLSKEYGSMYTVHLGPRRVVVLSGYQAVKEALVDQGEEFSGRGDYPAF
                     FNFTKGNGIAFSSGDRWKVLRQFSIQILRNFGMGKRSIEERILEEGSFLLAELRKTEGE
                     PFDPTFVLSRSVSNIICSVLFGSRFDYDDERLLTIIRLINDNFQIMSSPWGELYDIFPS
                     LLDWVPGPHQRIFQNFKCLRDLIAHSVHDHQASLDPRSPRDFIQCFLTKMAEEKEDPLS
                     HFHMDTLLMTTHNLLFGGTKTVSTTLHHAFLALMKYPKVQARVQEEIDLVVGRARLPAL
                     KDRAAMPYTDAVIHEVQRFADIIPMNLPHRVTRDTAFRGFLIPKGTDVITLLNTVHYDP
                     SQFLTPQEFNPEHFLDANQSFKKSPAFMPFSAGRRLCLGESLARMELFLYLTAILQSFS
                     LQPLGAPEDIDLTPLSSGLGNLPRPFQLCLRPR"
     sig_peptide     73..141
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      1821..1826
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /note="hexamer: AATAGA"
     polyA_site      1847
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /note="major polyA site"
ORIGIN
        1 aagcacaccc agagctgcag gctctagcgc atcccagcca gtgtctcctg cagctcagca
       61 gctgccttca ccatggacag cataagcaca gccatcttac tcctgctcct ggctctcgtc
      121 tgtctgctcc tgaccctaag ctcaagagat aagggaaagc tgcctccggg acccagaccc
      181 ctctcaatcc tgggaaacct gctgctgctt tgctcccaag acatgctgac ttctctcact
      241 aagctgagca aggagtatgg ctccatgtac acagtgcacc tgggacccag gcgggtggtg
      301 gtcctcagcg ggtaccaagc tgtgaaggag gccctggtgg accagggaga ggagtttagt
      361 ggccgcggtg actaccctgc ctttttcaac tttaccaagg gcaatggcat cgccttctcc
      421 agtggggatc gatggaaggt cctgagacag ttctctatcc agattctacg gaatttcggg
      481 atggggaaga gaagcattga ggagcgaatc ctagaggagg gcagcttcct gctggcggag
      541 ctgcggaaaa ctgaaggcga gccctttgac cccacgtttg tgctgagtcg ctcagtgtcc
      601 aacattatct gttccgtgct cttcggcagc cgcttcgact atgatgatga gcgtctgctc
      661 accattatcc gccttatcaa tgacaacttc caaatcatga gcagcccctg gggcgagttg
      721 tacgacatct tcccgagcct cctggactgg gtgcctgggc cgcaccaacg catcttccag
      781 aacttcaagt gcctgagaga cctcatcgcc cacagcgtcc acgaccacca ggcctcgcta
      841 gaccccagat ctccccggga cttcatccag tgcttcctca ccaagatggc agaggagaag
      901 gaggacccac tgagccactt ccacatggat accctgctga tgaccacaca taacctgctc
      961 tttggcggca ccaagacggt gagcaccacg ctgcaccacg ccttcctggc actcatgaag
     1021 tacccaaaag ttcaagcccg cgtgcaggag gagatcgacc tcgtggtggg acgcgcgcgg
     1081 ctgccggcgc tgaaggaccg cgcggccatg ccttacacag acgcggtgat ccacgaggtg
     1141 cagcgctttg cagacatcat ccccatgaac ttgccgcacc gcgtcactag ggacacggcc
     1201 tttcgcggct tcctgatacc caagggcacc gatgtcatca ccctccttaa caccgtccac
     1261 tacgacccca gccagttcct gacgccccag gagttcaacc ccgagcattt tttggatgcc
     1321 aatcagtcct tcaagaagag tccagccttc atgcccttct cagctgggcg ccgtctgtgc
     1381 ctgggagagt cgctggcgcg catggagctc tttctgtacc tcaccgccat cctgcagagc
     1441 ttttcgctgc agccgctggg tgcgcccgag gacatcgacc tgaccccact cagctcaggt
     1501 cttggcaatt tgccgcggcc tttccagctg tgcctgcgcc cgcgctaacg ccccggccct
     1561 tccagattcg cctgtgagcg atgaggcccg cccatgcggg ttgctacgtc cccttcttgg
     1621 tccacagtct gccctcatcc ctctggcagt cacgctgtct tccctgcatg ctgtgcctgc
     1681 cgcgtgccct tcccccatcc ctccaatctg tgccccgtct gcagggcaga ggcagatgtg
     1741 gcatgtcttt ttgtacccac agagcttgtt ctatggcacg cccttttcta ggctttttgt
     1801 atcatttctt agtacattgt aatagattca aaccagtctt ggctgaa
//
LOCUS       NM_000775               1879 bp    mRNA    linear   PRI 19-FEB-2023
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily J member 2 (CYP2J2),
            transcript variant 1, mRNA.
ACCESSION   NM_000775
VERSION     NM_000775.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1879)
  AUTHORS   Li Y, You C, Liu Z, He F, Zhao F, Song X, Xie Z, Wei S, Yang Y, Wei
            H, Che F and Yu J.
  TITLE     CYP2C8 and CYP2J2 gene variations increase the risk of hypertensive
            intracerebral hemorrhage
  JOURNAL   J Stroke Cerebrovasc Dis 32 (3), 106974 (2023)
   PUBMED   36587509
  REMARK    GeneRIF: CYP2C8 and CYP2J2 gene variations increase the risk of
            hypertensive intracerebral hemorrhage.
REFERENCE   2  (bases 1 to 1879)
  AUTHORS   Zhao B, Huang J, Lou X, Yao K, Ye M, Mou Q, Wen Z, Duan Q, Zhang H
            and Zhao Y.
  TITLE     Endothelial CYP2J2 overexpression restores the BRB via
            METTL3-mediated ANXA1 upregulation
  JOURNAL   FASEB J 36 (11), e22619 (2022)
   PUBMED   36269280
  REMARK    GeneRIF: Endothelial CYP2J2 overexpression restores the BRB via
            METTL3-mediated ANXA1 upregulation.
REFERENCE   3  (bases 1 to 1879)
  AUTHORS   Ding Y, Tu P, Chen Y, Huang Y, Pan X and Chen W.
  TITLE     CYP2J2 and EETs protect against pulmonary arterial hypertension with
            lung ischemia-reperfusion injury in vivo and in vitro
  JOURNAL   Respir Res 22 (1), 291 (2021)
   PUBMED   34774051
  REMARK    GeneRIF: CYP2J2 and EETs protect against pulmonary arterial
            hypertension with lung ischemia-reperfusion injury in vivo and in
            vitro. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1879)
  AUTHORS   Zou X and Mo Z.
  TITLE     CYP2J2 Is a Diagnostic and Prognostic Biomarker Associated with
            Immune Infiltration in Kidney Renal Clear Cell Carcinoma
  JOURNAL   Biomed Res Int 2021, 3771866 (2021)
   PUBMED   34258261
  REMARK    GeneRIF: CYP2J2 Is a Diagnostic and Prognostic Biomarker Associated
            with Immune Infiltration in Kidney Renal Clear Cell Carcinoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1879)
  AUTHORS   Xu L and Chen LY.
  TITLE     Molecular determinant of substrate binding and specificity of
            cytochrome P450 2J2
  JOURNAL   Sci Rep 10 (1), 22267 (2020)
   PUBMED   33335233
  REMARK    GeneRIF: Molecular determinant of substrate binding and specificity
            of cytochrome P450 2J2. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1879)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 1879)
  AUTHORS   Zeldin DC, Foley J, Goldsworthy SM, Cook ME, Boyle JE, Ma J, Moomaw
            CR, Tomer KB, Steenbergen C and Wu S.
  TITLE     CYP2J subfamily cytochrome P450s in the gastrointestinal tract:
            expression, localization, and potential functional significance
  JOURNAL   Mol Pharmacol 51 (6), 931-943 (1997)
   PUBMED   9187259
REFERENCE   8  (bases 1 to 1879)
  AUTHORS   Zeldin DC, Foley J, Boyle JE, Moomaw CR, Tomer KB, Parker C,
            Steenbergen C and Wu S.
  TITLE     Predominant expression of an arachidonate epoxygenase in islets of
            Langerhans cells in human and rat pancreas
  JOURNAL   Endocrinology 138 (3), 1338-1346 (1997)
   PUBMED   9048644
REFERENCE   9  (bases 1 to 1879)
  AUTHORS   Zeldin DC, Foley J, Ma J, Boyle JE, Pascual JM, Moomaw CR, Tomer KB,
            Steenbergen C and Wu S.
  TITLE     CYP2J subfamily P450s in the lung: expression, localization, and
            potential functional significance
  JOURNAL   Mol Pharmacol 50 (5), 1111-1117 (1996)
   PUBMED   8913342
REFERENCE   10  (bases 1 to 1879)
  AUTHORS   Wu S, Moomaw CR, Tomer KB, Falck JR and Zeldin DC.
  TITLE     Molecular cloning and expression of CYP2J2, a human cytochrome P450
            arachidonic acid epoxygenase highly expressed in heart
  JOURNAL   J Biol Chem 271 (7), 3460-3468 (1996)
   PUBMED   8631948
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U37143.2, BC032594.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371204.4/ ENSP00000360247.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC032594.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000775.3.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum and is thought
            to be the predominant enzyme responsible for epoxidation of
            endogenous arachidonic acid in cardiac tissue. Multiple transcript
            variants have been found for this gene. [provided by RefSeq, Jan
            2016].
            Transcript Variant: This variant (1) is the protein-coding
            transcript.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1879
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.1"
     gene            1..1879
                     /gene="CYP2J2"
                     /gene_synonym="CPJ2; CYPIIJ2"
                     /note="cytochrome P450 family 2 subfamily J member 2"
                     /db_xref="GeneID:1573"
                     /db_xref="HGNC:HGNC:2634"
                     /db_xref="MIM:601258"
     misc_feature    22..24
                     /gene="CYP2J2"
                     /gene_synonym="CPJ2; CYPIIJ2"
                     /note="upstream in-frame stop codon"
     CDS             28..1536
                     /gene="CYP2J2"
                     /gene_synonym="CPJ2; CYPIIJ2"
                     /EC_number="5.4.4.7"
                     /EC_number="1.14.14.73"
                     /EC_number="1.14.14.74"
                     /note="microsomal monooxygenase; flavoprotein-linked
                     monooxygenase; cytochrome P450, subfamily IIJ (arachidonic
                     acid epoxygenase) polypeptide 2; cytochrome P450, family 2,
                     subfamily J, polypeptide 2; albendazole monooxygenase
                     (hydroxylating); albendazole monooxygenase
                     (sulfoxide-forming); hydroperoxy icosatetraenoate
                     isomerase"
                     /codon_start=1
                     /product="cytochrome P450 2J2"
                     /protein_id="NP_000766.2"
                     /db_xref="CCDS:CCDS613.1"
                     /db_xref="GeneID:1573"
                     /db_xref="HGNC:HGNC:2634"
                     /db_xref="MIM:601258"
                     /translation="MLAAMGSLAAALWAVVHPRTLLLGTVAFLLAADFLKRRRPKNYPP
                     GPWRLPFLGNFFLVDFEQSHLEVQLFVKKYGNLFSLELGDISAVLITGLPLIKEALIHM
                     DQNFGNRPVTPMREHIFKKNGLIMSSGQAWKEQRRFTLTALRNFGLGKKSLEERIQEEA
                     QHLTEAIKEENGQPFDPHFKINNAVSNIICSITFGERFEYQDSWFQQLLKLLDEVTYLE
                     ASKTCQLYNVFPWIMKFLPGPHQTLFSNWKKLKLFVSHMIDKHRKDWNPAETRDFIDAY
                     LKEMSKHTGNPTSSFHEENLICSTLDLFFAGTETTSTTLRWALLYMALYPEIQEKVQAE
                     IDRVIGQGQQPSTAARESMPYTNAVIHEVQRMGNIIPLNVPREVTVDTTLAGYHLPKGT
                     MILTNLTALHRDPTEWATPDTFNPDHFLENGQFKKREAFMPFSIGKRACLGEQLARTEL
                     FIFFTSLMQKFTFRPPNNEKLSLKFRMGITISPVSHRLCAVPQV"
     regulatory      1849..1854
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2J2"
                     /gene_synonym="CPJ2; CYPIIJ2"
                     /note="hexamer: CATAAA"
     polyA_site      1879
                     /gene="CYP2J2"
                     /gene_synonym="CPJ2; CYPIIJ2"
                     /note="major polyA site"
ORIGIN
        1 gcagaagagc aggaggacgt ctgagccatg ctcgcggcga tgggctctct ggcggctgcc
       61 ctctgggcag tggtccatcc tcggactctc ctactgggca ctgtcgcctt tctgctcgct
      121 gctgactttc tcaaaagacg gcgcccaaag aactacccgc cggggccctg gcgcctgccc
      181 ttccttggca acttcttcct tgtggacttc gagcagtcgc acctggaggt tcagctgttt
      241 gtgaagaaat atgggaacct ttttagcttg gagcttggtg acatatctgc agttcttatt
      301 actggcttgc ccttaatcaa agaagccctt atccacatgg accaaaactt tgggaaccgc
      361 cccgtgaccc ctatgcgaga acatatcttt aagaaaaatg gattgattat gtcaagtggc
      421 caggcatgga aggagcaaag aaggttcact ctgacagcac taaggaactt tggtttagga
      481 aagaagagct tagaggaacg cattcaggag gaggcccaac acctcactga agcaataaaa
      541 gaggagaacg gacagccttt tgaccctcat ttcaagatca acaatgcagt ttccaatatc
      601 atttgctcca tcaccttcgg agaacgcttt gagtaccagg atagttggtt tcagcagctg
      661 ctgaagttac tagatgaagt cacatacttg gaggcttcaa agacatgcca gctctacaat
      721 gtctttccat ggataatgaa attcctgcct ggaccccacc aaactctctt cagcaactgg
      781 aaaaaactga aattgtttgt ttctcatatg attgacaaac acagaaagga ttggaatcct
      841 gcagaaacaa gagactttat tgatgcttac cttaaagaaa tgtcaaagca cacaggcaat
      901 cctacttcaa gtttccatga agaaaacctc atctgcagca ccctggacct cttctttgcc
      961 ggaaccgaga caacttccac aactctgcga tgggctctgc tttatatggc cctctaccca
     1021 gaaatccaag aaaaagtaca agctgagatt gacagagtga ttggccaggg gcagcagccg
     1081 agcacagccg cccgggagtc catgccctac accaatgctg tcatccatga ggtgcagaga
     1141 atgggcaaca tcatccccct gaacgttccc agggaagtga cagttgatac cactttggct
     1201 gggtaccacc tgcccaaggg taccatgatc ctgaccaatt tgacggcgct gcacagggac
     1261 cccacagagt gggccacccc tgacacattc aatccggacc attttctgga gaatggacag
     1321 tttaagaaaa gggaagcctt tatgcctttc tcaataggaa agcgggcatg cctcggagaa
     1381 cagttggcca ggactgagct gtttattttc ttcacttccc ttatgcaaaa atttaccttc
     1441 aggcccccaa acaatgagaa gctgagcctg aagtttagaa tgggtatcac catttcccca
     1501 gtcagtcacc gcctctgcgc tgttcctcag gtgtaatatt gttaagaaag aaaggggcaa
     1561 ggaaagtaag aagacatggc acgtgttctg aaaccactgg tgtctgctca gatgtgttgg
     1621 gacaaaatga aagtgacttt caagaaagat cagaggaatt tgactcagag aaaactagat
     1681 ccaaatccca gctctactgt ctcgtccgaa ttagccttgg gaaaatcatt tatatgctaa
     1741 ataatttacc tttttatcta ggagatgaaa agaggataat gtttccttcc ataaagaaag
     1801 ttcttgtaag aatcaaaaga aatggtgagc tttaagtggt ttgtaaacca taaaacacat
     1861 cataaaagtt ctatctata
//
LOCUS       NM_000777               1720 bp    mRNA    linear   PRI 18-JUL-2023
DEFINITION  Homo sapiens cytochrome P450 family 3 subfamily A member 5 (CYP3A5),
            transcript variant 1, mRNA.
ACCESSION   NM_000777
VERSION     NM_000777.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1720)
  AUTHORS   Wu T, Wu S, Li L, Xiang J, Wang N, Chen W and Zhang J.
  TITLE     The impact of ABCB1, CYP3A4/5 and ABCG2 gene polymorphisms on
            rivaroxaban trough concentrations and bleeding events in patients
            with non-valvular atrial fibrillation
  JOURNAL   Hum Genomics 17 (1), 59 (2023)
   PUBMED   37420302
  REMARK    GeneRIF: The impact of ABCB1, CYP3A4/5 and ABCG2 gene polymorphisms
            on rivaroxaban trough concentrations and bleeding events in patients
            with non-valvular atrial fibrillation. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 1720)
  AUTHORS   Rao N, Carcella T, Patel N, Bartlett F, Posadas MA, Casey M, Dubay
            DA and Taber DJ.
  TITLE     Impact of CYP3A5 genotype on de-novo LCP tacrolimus dosing and
            monitoring in kidney transplantation
  JOURNAL   Pharmacogenet Genomics 33 (3), 59-65 (2023)
   PUBMED   36877088
  REMARK    GeneRIF: Impact of CYP3A5 genotype on de-novo LCP tacrolimus dosing
            and monitoring in kidney transplantation.
REFERENCE   3  (bases 1 to 1720)
  AUTHORS   Tanda M, Yamamoto K, Hori T, Nishiguchi H, Yagi M, Shimizu M,
            Konishi T, Ozaki T, Yoshioka N, Tachihara M, Ito T, Ikushima S,
            Omura T and Yano I.
  TITLE     Association of STAT3, CYP3A5, and ABCG2 Polymorphisms With
            Osimertinib-induced Adverse Events in NSCLC Patients
  JOURNAL   Anticancer Res 43 (4), 1775-1783 (2023)
   PUBMED   36974789
  REMARK    GeneRIF: Association of STAT3, CYP3A5, and ABCG2 Polymorphisms With
            Osimertinib-induced Adverse Events in NSCLC Patients.
REFERENCE   4  (bases 1 to 1720)
  AUTHORS   Maseko N, Yang S, Li C, Zhang S, Wang R, Zhang Y, Li C, Zhang C and
            Li L.
  TITLE     Impact of genetic polymorphisms on tacrolimus trough blood
            concentration in Chinese liver transplant recipients
  JOURNAL   Pharmacogenomics 24 (4), 207-217 (2023)
   PUBMED   36927114
  REMARK    GeneRIF: Impact of genetic polymorphisms on tacrolimus trough blood
            concentration in Chinese liver transplant recipients.
REFERENCE   5  (bases 1 to 1720)
  AUTHORS   Scorcella C, Domizi R, Amoroso S, Carsetti A, Casarotta E, Castaldo
            P, D'angelo C, Damiani E, Gasparri F, Donati A and Adrario E.
  TITLE     Pharmacogenetics in critical care: association between CYP3A5
            rs776746 A/G genotype and acetaminophen response in sepsis and
            septic shock
  JOURNAL   BMC Anesthesiol 23 (1), 55 (2023)
   PUBMED   36797680
  REMARK    GeneRIF: Pharmacogenetics in critical care: association between
            CYP3A5 rs776746 A/G genotype and acetaminophen response in sepsis
            and septic shock. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1720)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 1720)
  AUTHORS   Murray GI, Pritchard S, Melvin WT and Burke MD.
  TITLE     Cytochrome P450 CYP3A5 in the human anterior pituitary gland
  JOURNAL   FEBS Lett 364 (1), 79-82 (1995)
   PUBMED   7750548
REFERENCE   8  (bases 1 to 1720)
  AUTHORS   Jounaidi Y, Guzelian PS, Maurel P and Vilarem MJ.
  TITLE     Sequence of the 5'-flanking region of CYP3A5: comparative analysis
            with CYP3A4 and CYP3A7
  JOURNAL   Biochem Biophys Res Commun 205 (3), 1741-1747 (1994)
   PUBMED   7811260
REFERENCE   9  (bases 1 to 1720)
  AUTHORS   Schuetz JD, Molowa DT and Guzelian PS.
  TITLE     Characterization of a cDNA encoding a new member of the
            glucocorticoid-responsive cytochromes P450 in human liver
  JOURNAL   Arch Biochem Biophys 274 (2), 355-365 (1989)
   PUBMED   2802615
REFERENCE   10  (bases 1 to 1720)
  AUTHORS   Aoyama T, Yamano S, Waxman DJ, Lapenson DP, Meyer UA, Fischer V,
            Tyndale R, Inaba T, Kalow W, Gelboin HV et al.
  TITLE     Cytochrome P-450 hPCN3, a novel cytochrome P-450 IIIA gene product
            that is differentially expressed in adult human liver. cDNA and
            deduced amino acid sequence and distinct specificities of
            cDNA-expressed hPCN1 and hPCN3 for the metabolism of steroid
            hormones and cyclosporine
  JOURNAL   J Biol Chem 264 (18), 10388-10395 (1989)
   PUBMED   2732228
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: J04813.1, BC033862.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000222982.8/ ENSP00000222982.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC383127.1, BC033862.1 and
            AA076026.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 24, 2018 this sequence version replaced NM_000777.4.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            The encoded protein metabolizes drugs as well as the steroid
            hormones testosterone and progesterone. This gene is part of a
            cluster of cytochrome P450 genes on chromosome 7q21.1. Two
            pseudogenes of this gene have been identified within this cluster
            on chromosome 7. Expression of this gene is widely variable among
            populations, and a single nucleotide polymorphism that affects
            transcript splicing has been associated with susceptibility to
            hypertensions. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Apr 2014].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1720
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..1720
                     /gene="CYP3A5"
                     /gene_synonym="CP35; CYPIIIA5; P450PCN3; PCN3"
                     /note="cytochrome P450 family 3 subfamily A member 5"
                     /db_xref="GeneID:1577"
                     /db_xref="HGNC:HGNC:2638"
                     /db_xref="MIM:605325"
     misc_feature    83..85
                     /gene="CYP3A5"
                     /gene_synonym="CP35; CYPIIIA5; P450PCN3; PCN3"
                     /note="upstream in-frame stop codon"
     CDS             101..1609
                     /gene="CYP3A5"
                     /gene_synonym="CP35; CYPIIIA5; P450PCN3; PCN3"
                     /EC_number="1.14.14.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     flavoprotein-linked monooxygenase; cytochrome P450,
                     subfamily IIIA (niphedipine oxidase), polypeptide 5; aryl
                     hydrocarbon hydroxylase; xenobiotic monooxygenase;
                     microsomal monooxygenase; cytochrome P450 3A5; cytochrome
                     P450 HLp2; cytochrome P450-PCN3; cytochrome P450, family 3,
                     subfamily A, polypeptide 5"
                     /codon_start=1
                     /product="cytochrome P450 3A5 isoform 1"
                     /protein_id="NP_000768.1"
                     /db_xref="CCDS:CCDS5672.1"
                     /db_xref="GeneID:1577"
                     /db_xref="HGNC:HGNC:2638"
                     /db_xref="MIM:605325"
                     /translation="MDLIPNLAVETWLLLAVSLVLLYLYGTRTHGLFKRLGIPGPTPLP
                     LLGNVLSYRQGLWKFDTECYKKYGKMWGTYEGQLPVLAITDPDVIRTVLVKECYSVFTN
                     RRSLGPVGFMKSAISLAEDEEWKRIRSLLSPTFTSGKLKEMFPIIAQYGDVLVRNLRRE
                     AEKGKPVTLKDIFGAYSMDVITGTSFGVNIDSLNNPQDPFVESTKKFLKFGFLDPLFLS
                     IILFPFLTPVFEALNVSLFPKDTINFLSKSVNRMKKSRLNDKQKHRLDFLQLMIDSQNS
                     KETESHKALSDLELAAQSIIFIFAGYETTSSVLSFTLYELATHPDVQQKLQKEIDAVLP
                     NKAPPTYDAVVQMEYLDMVVNETLRLFPVAIRLERTCKKDVEINGVFIPKGSMVVIPTY
                     ALHHDPKYWTEPEEFRPERFSKKKDSIDPYIYTPFGTGPRNCIGMRFALMNMKLALIRV
                     LQNFSFKPCKETQIPLKLDTQGLLQPEKPIVLKVDSRDGTLSGE"
     regulatory      1695..1700
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP3A5"
                     /gene_synonym="CP35; CYPIIIA5; P450PCN3; PCN3"
                     /note="hexamer: AATAAA"
     polyA_site      1720
                     /gene="CYP3A5"
                     /gene_synonym="CP35; CYPIIIA5; P450PCN3; PCN3"
                     /note="major polyA site"
ORIGIN
        1 gctgtgcagg gcagggaagc tccaggcaaa cagcccagca aacagcagca ctcagctaaa
       61 aggaagactc acagaacaca gttgaagaag gaaagtggcg atggacctca tcccaaattt
      121 ggcggtggaa acctggcttc tcctggctgt cagcctggtg ctcctctatc tatatgggac
      181 ccgtacacat ggacttttta agagactggg aattccaggg cccacacctc tgcctttgtt
      241 gggaaatgtt ttgtcctatc gtcagggtct ctggaaattt gacacagagt gctataaaaa
      301 gtatggaaaa atgtggggaa cgtatgaagg tcaactccct gtgctggcca tcacagatcc
      361 cgacgtgatc agaacagtgc tagtgaaaga atgttattct gtcttcacaa atcgaaggtc
      421 tttaggccca gtgggattta tgaaaagtgc catctcttta gctgaggatg aagaatggaa
      481 gagaatacgg tcattgctgt ctccaacctt caccagcgga aaactcaagg agatgttccc
      541 catcattgcc cagtatggag atgtattggt gagaaacttg aggcgggaag cagagaaagg
      601 caagcctgtc accttgaaag acatctttgg ggcctacagc atggatgtga ttactggcac
      661 atcatttgga gtgaacatcg actctctcaa caatccacaa gacccctttg tggagagcac
      721 taagaagttc ctaaaatttg gtttcttaga tccattattt ctctcaataa tactctttcc
      781 attccttacc ccagtttttg aagcattaaa tgtctctctg tttccaaaag ataccataaa
      841 ttttttaagt aaatctgtaa acagaatgaa gaaaagtcgc ctcaacgaca aacaaaagca
      901 ccgactagat ttccttcagc tgatgattga ctcccagaat tcgaaagaaa ctgagtccca
      961 caaagctctg tctgatctgg agctcgcagc ccagtcaata atcttcattt ttgctggcta
     1021 tgaaaccacc agcagtgttc tttccttcac tttatatgaa ctggccactc accctgatgt
     1081 ccagcagaaa ctgcaaaagg agattgatgc agttttgccc aataaggcac cacctaccta
     1141 tgatgccgtg gtacagatgg agtaccttga catggtggtg aatgaaacac tcagattatt
     1201 cccagttgct attagacttg agaggacttg caagaaagat gttgaaatca atggggtatt
     1261 cattcccaaa gggtcaatgg tggtgattcc aacttatgct cttcaccatg acccaaagta
     1321 ctggacagag cctgaggagt tccgccctga aaggttcagt aagaagaagg acagcataga
     1381 tccttacata tacacaccct ttggaactgg acccagaaac tgcattggca tgaggtttgc
     1441 tctcatgaac atgaaacttg ctctaatcag agtccttcag aacttctcct tcaaaccttg
     1501 taaagaaaca cagatcccct tgaaattaga cacgcaagga cttcttcaac cagaaaaacc
     1561 cattgttcta aaggtggatt caagagatgg aaccctaagt ggagaatgag ttattctaag
     1621 gatttctact ttggtcttca agaaagctgt gccccagaac accagagatt tcaacttagt
     1681 caataaaacc ttgaaataaa gatgggctta atctaatgta
//
LOCUS       NM_000778               2530 bp    mRNA    linear   PRI 16-MAY-2021
DEFINITION  Homo sapiens cytochrome P450 family 4 subfamily A member 11
            (CYP4A11), transcript variant 1, mRNA.
ACCESSION   NM_000778
VERSION     NM_000778.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2530)
  AUTHORS   Huang Z, Jiang Y and Zhou Y.
  TITLE     The role of cytochrome P450 gene rs1126742 polymorphism and risk of
            hypertension: a systematic review and meta-analysis
  JOURNAL   Biosci Rep 40 (5) (2020)
   PUBMED   32373936
  REMARK    GeneRIF: The role of cytochrome P450 gene rs1126742 polymorphism and
            risk of hypertension: a systematic review and meta-analysis.
REFERENCE   2  (bases 1 to 2530)
  AUTHORS   Jing C, Wang T, Ma R, Cao H, Wang Z, Liu S, Chen D, Zhang J, Wu Y,
            Zhang Y, Wu J and Feng J.
  TITLE     New genetic variations discovered in KRAS wild-type cetuximab
            resistant chinese colorectal cancer patients
  JOURNAL   Mol Carcinog 59 (5), 478-491 (2020)
   PUBMED   32141150
  REMARK    GeneRIF: Mutation in CYP4A11 gene is associated with cetuximab
            resistance in colorectal cancer.
REFERENCE   3  (bases 1 to 2530)
  AUTHORS   Gao H, Cao Y, Xia H, Zhu X and Jin Y.
  TITLE     CYP4A11 is involved in the development of nonalcoholic fatty liver
            disease via ROSinduced lipid peroxidation and inflammation
  JOURNAL   Int J Mol Med 45 (4), 1121-1129 (2020)
   PUBMED   32124935
  REMARK    GeneRIF: CYP4A11 is involved in the development of nonalcoholic
            fatty liver disease via ROSinduced lipid peroxidation and
            inflammation.
REFERENCE   4  (bases 1 to 2530)
  AUTHORS   Yu K, Zhang T and Li X.
  TITLE     Genetic role of CYP4A11 polymorphisms in the risk of developing
            cardiovascular and cerebrovascular diseases
  JOURNAL   Ann Hum Genet 82 (6), 370-381 (2018)
   PUBMED   30132788
  REMARK    GeneRIF: The rs1126742 T/C polymorphism of CYP4A11 is more likely to
            be a genetic risk factor for the hypertension cases in the Caucasian
            population. Moreover, whereas the AG genotype of CYP4A11 rs9332978
            may be associated with an increased risk of hypertension, the AA
            genotype of rs9333025 may be linked to a decreased risk of
            cardiovascular and cerebrovascular diseases. [meta-analysis]
REFERENCE   5  (bases 1 to 2530)
  AUTHORS   Sirotina S, Ponomarenko I, Kharchenko A, Bykanova M, Bocharova A,
            Vagaytseva K, Stepanov V, Churnosov M, Solodilova M and Polonikov A.
  TITLE     A Novel Polymorphism in the Promoter of the CYP4A11 Gene Is
            Associated with Susceptibility to Coronary Artery Disease
  JOURNAL   Dis Markers 2018, 5812802 (2018)
   PUBMED   29484037
  REMARK    GeneRIF: Haplotype G-C-A of CYP4A11 was associated with increased
            risk of coronary artery disease. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2530)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 2530)
  AUTHORS   Kawashima H, Kusunose E, Kikuta Y, Kinoshita H, Tanaka S, Yamamoto
            S, Kishimoto T and Kusunose M.
  TITLE     Purification and cDNA cloning of human liver CYP4A fatty acid
            omega-hydroxylase
  JOURNAL   J Biochem 116 (1), 74-80 (1994)
   PUBMED   7798189
REFERENCE   8  (bases 1 to 2530)
  AUTHORS   Imaoka S, Ogawa H, Kimura S and Gonzalez FJ.
  TITLE     Complete cDNA sequence and cDNA-directed expression of CYP4A11, a
            fatty acid omega-hydroxylase expressed in human kidney
  JOURNAL   DNA Cell Biol 12 (10), 893-899 (1993)
   PUBMED   8274222
REFERENCE   9  (bases 1 to 2530)
  AUTHORS   Palmer CN, Richardson TH, Griffin KJ, Hsu MH, Muerhoff AS, Clark JE
            and Johnson EF.
  TITLE     Characterization of a cDNA encoding a human kidney, cytochrome P-450
            4A fatty acid omega-hydroxylase and the cognate enzyme expressed in
            Escherichia coli
  JOURNAL   Biochim Biophys Acta 1172 (1-2), 161-166 (1993)
   PUBMED   7679927
REFERENCE   10  (bases 1 to 2530)
  AUTHORS   Kawashima H, Kusunose E, Kubota I, Maekawa M and Kusunose M.
  TITLE     Purification and NH2-terminal amino acid sequences of human and rat
            kidney fatty acid omega-hydroxylases
  JOURNAL   Biochim Biophys Acta 1123 (2), 156-162 (1992)
   PUBMED   1739747
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.68480.1, L04751.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN04284274
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000310638.9/ ENSP00000311095.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD014132.1, S67580.1, D26481.1
            and AL731892.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000778.3.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum and
            hydroxylates medium-chain fatty acids such as laurate and
            myristate. Multiple transcript variants have been found for this
            gene. [provided by RefSeq, Jan 2016].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2530
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p33"
     gene            1..2530
                     /gene="CYP4A11"
                     /gene_synonym="CP4Y; CYP4A2; CYP4AII; CYPIVA11"
                     /note="cytochrome P450 family 4 subfamily A member 11"
                     /db_xref="GeneID:1579"
                     /db_xref="HGNC:HGNC:2642"
                     /db_xref="MIM:601310"
     CDS             44..1603
                     /gene="CYP4A11"
                     /gene_synonym="CP4Y; CYP4A2; CYP4AII; CYPIVA11"
                     /EC_number="1.14.14.1"
                     /EC_number="1.14.14.80"
                     /note="isoform 1 is encoded by transcript variant 1; fatty
                     acid omega-hydroxylase; P450HL-omega; alkane-1
                     monooxygenase; lauric acid omega-hydroxylase; cytochrome
                     P450, subfamily IVA, polypeptide 11; cytochrome P450 4A11;
                     20-HETE synthase; cytochrome P450HL-omega; cytochrome
                     P-450HK-omega; 20-hydroxyeicosatetraenoic acid synthase;
                     long-chain fatty acid omega-monooxygenase; cytochrome P450,
                     family 4, subfamily A, polypeptide 11"
                     /codon_start=1
                     /product="cytochrome P450 4A11 isoform 1"
                     /protein_id="NP_000769.2"
                     /db_xref="CCDS:CCDS543.1"
                     /db_xref="GeneID:1579"
                     /db_xref="HGNC:HGNC:2642"
                     /db_xref="MIM:601310"
                     /translation="MSVSVLSPSRLLGDVSGILQAASLLILLLLLIKAVQLYLHRQWLL
                     KALQQFPCPPSHWLFGHIQELQQDQELQRIQKWVETFPSACPHWLWGGKVRVQLYDPDY
                     MKVILGRSDPKSHGSYRFLAPWIGYGLLLLNGQTWFQHRRMLTPAFHYDILKPYVGLMA
                     DSVRVMLDKWEELLGQDSPLEVFQHVSLMTLDTIMKCAFSHQGSIQVDRNSQSYIQAIS
                     DLNNLVFSRVRNAFHQNDTIYSLTSAGRWTHRACQLAHQHTDQVIQLRKAQLQKEGELE
                     KIKRKRHLDFLDILLLAKMENGSILSDKDLRAEVDTFMFEGHDTTASGISWILYALATH
                     PKHQERCREEIHSLLGDGASITWNHLDQMPYTTMCIKEALRLYPPVPGIGRELSTPVTF
                     PDGRSLPKGIMVLLSIYGLHHNPKVWPNPEVFDPFRFAPGSAQHSHAFLPFSGGSRNCI
                     GKQFAMNELKVATALTLLRFELLPDPTRIPIPIARLVLKSKNGIHLRLRRLPNPCEDKD
                     QL"
     regulatory      2511..2516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP4A11"
                     /gene_synonym="CP4Y; CYP4A2; CYP4AII; CYPIVA11"
                     /note="hexamer: AATAAA"
     polyA_site      2530
                     /gene="CYP4A11"
                     /gene_synonym="CP4Y; CYP4A2; CYP4AII; CYPIVA11"
                     /note="major polyA site"
ORIGIN
        1 agagagaggt aggggcactc agagatccag caggtgctgc accatgagtg tctctgtgct
       61 gagccccagc agactcctgg gtgatgtctc tggaatcctc caagcggcct ccctgctcat
      121 tctgcttctg ctgctgatca aggcagttca gctctacctg cacaggcagt ggctgctcaa
      181 agccctccag cagttcccgt gccctccctc ccactggctc ttcgggcaca tccaggagct
      241 ccaacaggac caggagctac aacggattca gaaatgggtg gagacattcc caagtgcctg
      301 tcctcattgg ctatggggag gcaaagttcg tgtccagctc tatgaccctg actatatgaa
      361 ggtgattctg gggagatcag acccgaaatc ccatggttcc tacagattcc tggctccatg
      421 gattgggtac ggcttgctcc tgttgaatgg gcagacatgg ttccagcatc gacggatgct
      481 gaccccagcc ttccactatg acatcctgaa gccctatgtg gggctcatgg cagactctgt
      541 acgagtgatg ctggacaaat gggaagagct ccttggccag gattcccctc tggaggtctt
      601 tcagcacgtc tccttgatga ccctggacac catcatgaag tgtgccttca gccatcaggg
      661 cagcatccag gtggacagga attctcagtc ctacatacag gccattagtg acctgaacaa
      721 cctggttttt tcccgtgtga ggaatgcctt tcaccagaat gacaccatct acagcctgac
      781 ctctgctggc cgctggacac accgcgcctg ccagctggcc catcagcaca cagaccaagt
      841 gatccaactg aggaaggctc aactacagaa ggagggggag ctggagaaga tcaagaggaa
      901 gaggcatttg gattttctgg atatcctcct cttggccaaa atggagaatg ggagcatctt
      961 gtcagacaag gacctccgtg ctgaggtgga cacgttcatg tttgagggcc acgacaccac
     1021 agccagtggg atctcctgga tcctctatgc tctggccaca caccccaagc atcaggagag
     1081 gtgccgggag gagatccaca gcctcctggg tgatggagcc tccatcacct ggaaccacct
     1141 ggaccagatg ccctacacca ccatgtgcat taaggaggca ctgaggctct acccaccggt
     1201 gccaggcatt ggcagagagc tcagcactcc cgtcaccttc cctgatgggc gctccttgcc
     1261 caaaggtatc atggtcctcc tctccattta tggccttcac cacaacccaa aagtgtggcc
     1321 caacccagag gtgtttgacc ctttccgttt tgcaccgggt tctgctcaac acagccacgc
     1381 tttcctgccc ttctcaggag gatcaaggaa ctgcatcggg aaacaatttg ccatgaacga
     1441 gctgaaggtg gccacggccc tgaccctgct ccgctttgag ctgctgcctg atcccaccag
     1501 gatccccatc cccattgcac gacttgtgtt gaaatccaaa aatggaatcc acctgcgtct
     1561 caggaggctc cctaaccctt gtgaagacaa ggaccagctt tgagggcctc cacctgccgt
     1621 cctgtcttcc tgacccccgc ttctgtcccc ttcctgtctg cccatatcct gttttctgtc
     1681 tgcccacctt cccttcttcc cacctgcctg ctgtccccca gtctgcctgc ccttctctct
     1741 ctcacctttc tccaggctcc ctacctgctt gtctacctgt ctcctaccca cctgtatctc
     1801 ttgttgggag aaaagctgag tgttgggaga agctgaggcc gagcttgcat gtctgacata
     1861 atgtaaaaga gtcttggatc atgtccagga tccagggtct aaaacccctt gtggcctttg
     1921 gaacaccaag ctctgtgctg aagggtggaa ggctaccctg acgcaccata atctaagccc
     1981 ggggcataaa acccctcgtg gcttggatag aatccagggc tcgtggctct ggaatgtgtc
     2041 tgaacttgct gcctcctcgc tccttgctct cccaggatca attgtatctt gagttaaaag
     2101 aacctgctct ccattatctc aagtagcaga gcagatgcta aaccgtcaca gctgtaaatc
     2161 atgtgcttaa tgcaacatgc cctttcgacc cccacattct caccacctgt ttctttgttt
     2221 gatcaccaat aaataatctg cacttccaga gctcggggcc ttcacagcct ccatccttag
     2281 ctttggcgcc ctggacccac tttctctctc aaactgtctt ttctcactgc tttgactctg
     2341 ccggactttg tcacccccac gacctggtgt tgggtctgaa caccccaaca tccctgaatc
     2401 tccacccacc tcccaaactc ctgcctgccc tccagactgt ctgcccatac acctgtctcc
     2461 ttcttcctgc ctgcttgtct gttcctatat tagtttccta ttactgctgt aataaactat
     2521 cacaatctca
//
LOCUS       NM_000780               2877 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens cytochrome P450 family 7 subfamily A member 1 (CYP7A1),
            mRNA.
ACCESSION   NM_000780
VERSION     NM_000780.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2877)
  AUTHORS   Liu SX, Bai H, Guan LB, Liu XH, Fan P, Zhou M, Wu YJ, Tang FM, Wang
            YF and Li DH.
  TITLE     [Cholesterol 7alpha-Hydroxylase Gene-204A/C Polymorphism in Normal
            and Gestational Diabetic Pregnancies]
  JOURNAL   Sichuan Da Xue Xue Bao Yi Xue Ban 54 (2), 361-366 (2023)
   PUBMED   36949699
  REMARK    GeneRIF: [Cholesterol 7alpha-Hydroxylase Gene-204A/C Polymorphism in
            Normal and Gestational Diabetic Pregnancies].
REFERENCE   2  (bases 1 to 2877)
  AUTHORS   Balesaria S, Pattni SS, Johnston IM, Nolan JD, Appleby RN and
            Walters JRF.
  TITLE     Common Genetic Variants in the Bile Acid Synthesis Enzyme CYP7A1 Are
            Associated With Severe Primary Bile Acid Diarrhea
  JOURNAL   Gastroenterology 163 (2), 517-519 (2022)
   PUBMED   35526572
  REMARK    GeneRIF: Common Genetic Variants in the Bile Acid Synthesis Enzyme
            CYP7A1 Are Associated With Severe Primary Bile Acid Diarrhea.
REFERENCE   3  (bases 1 to 2877)
  AUTHORS   Sezer E, Can Demirdogen B, Demirkaya S, Bulut G, Akkulak M, Evin E
            and Adali O.
  TITLE     Association of cholesterol 7alpha-hydroxylase (CYP7A1) promoter
            polymorphism (rs3808607) and cholesterol 24S-hydroxylase (CYP46A1)
            intron 2 polymorphism (rs754203) with serum lipids, vitamin D
            levels, and multiple sclerosis risk in the Turkish population
  JOURNAL   Neurol Sci 43 (4), 2611-2620 (2022)
   PUBMED   34546511
  REMARK    GeneRIF: Association of cholesterol 7alpha-hydroxylase (CYP7A1)
            promoter polymorphism (rs3808607) and cholesterol 24S-hydroxylase
            (CYP46A1) intron 2 polymorphism (rs754203) with serum lipids,
            vitamin D levels, and multiple sclerosis risk in the Turkish
            population.
REFERENCE   4  (bases 1 to 2877)
  AUTHORS   Abed E, Jarrar Y, Alhawari H, Abdullah S and Zihlif M.
  TITLE     The association of cytochrome 7A1 and ATP-binding cassette G8
            genotypes with type 2 diabetes among Jordanian patients
  JOURNAL   Drug Metab Pers Ther 37 (2), 149-154 (2021)
   PUBMED   34845882
  REMARK    GeneRIF: The association of cytochrome 7A1 and ATP-binding cassette
            G8 genotypes with type 2 diabetes among Jordanian patients.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2877)
  AUTHORS   Iwanicki T, Balcerzyk A, Niemiec P, Trautsolt W, Grzeszczak W,
            Ochalska-Tyka A, Krauze J, Nowak T and Zak I.
  TITLE     The relationship between CYP7A1 polymorphisms, coronary artery
            disease & serum lipid markers
  JOURNAL   Biomark Med 13 (14), 1199-1208 (2019)
   PUBMED   31578885
  REMARK    GeneRIF: relationship between CYP7A1 polymorphisms, coronary artery
            disease & serum lipid markers
REFERENCE   6  (bases 1 to 2877)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 2877)
  AUTHORS   Cohen JC, Cali JJ, Jelinek DF, Mehrabian M, Sparkes RS, Lusis AJ,
            Russell DW and Hobbs HH.
  TITLE     Cloning of the human cholesterol 7 alpha-hydroxylase gene (CYP7) and
            localization to chromosome 8q11-q12
  JOURNAL   Genomics 14 (1), 153-161 (1992)
   PUBMED   1358792
REFERENCE   8  (bases 1 to 2877)
  AUTHORS   Karam WG and Chiang JY.
  TITLE     Polymorphisms of human cholesterol 7 alpha-hydroxylase
  JOURNAL   Biochem Biophys Res Commun 185 (2), 588-595 (1992)
   PUBMED   1610352
REFERENCE   9  (bases 1 to 2877)
  AUTHORS   Molowa DT, Chen WS, Cimis GM and Tan CP.
  TITLE     Transcriptional regulation of the human cholesterol 7
            alpha-hydroxylase gene
  JOURNAL   Biochemistry 31 (9), 2539-2544 (1992)
   PUBMED   1312351
REFERENCE   10  (bases 1 to 2877)
  AUTHORS   Noshiro M and Okuda K.
  TITLE     Molecular cloning and sequence analysis of cDNA encoding human
            cholesterol 7 alpha-hydroxylase
  JOURNAL   FEBS Lett 268 (1), 137-140 (1990)
   PUBMED   2384150
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M93133.1, X56088.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145122,
            SAMEA2155590 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000301645.4/ ENSP00000301645.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009927.10 and BC101777.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000780.3.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This endoplasmic reticulum membrane protein catalyzes the first
            reaction in the cholesterol catabolic pathway in the liver, which
            converts cholesterol to bile acids. This reaction is the rate
            limiting step and the major site of regulation of bile acid
            synthesis, which is the primary mechanism for the removal of
            cholesterol from the body. Polymorphisms in the promoter of this
            gene are associated with defects in bile acid synthesis. [provided
            by RefSeq, Feb 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2877
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.1"
     gene            1..2877
                     /gene="CYP7A1"
                     /gene_synonym="CP7A; CYP7; CYPVII"
                     /note="cytochrome P450 family 7 subfamily A member 1"
                     /db_xref="GeneID:1581"
                     /db_xref="HGNC:HGNC:2651"
                     /db_xref="MIM:118455"
     misc_feature    54..56
                     /gene="CYP7A1"
                     /gene_synonym="CP7A; CYP7; CYPVII"
                     /note="upstream in-frame stop codon"
     CDS             66..1580
                     /gene="CYP7A1"
                     /gene_synonym="CP7A; CYP7; CYPVII"
                     /EC_number="1.14.14.23"
                     /EC_number="1.14.14.26"
                     /note="cholesterol 7-alpha-hydroxylase; cholesterol
                     7-alpha-monooxygenase; cytochrome P450, subfamily VIIA
                     polypeptide 1; cholesterol 7alpha-hydroxylase; cytochrome
                     P450, family 7, subfamily A, polypeptide 1;
                     24-hydroxycholesterol 7-alpha-hydroxylase"
                     /codon_start=1
                     /product="cytochrome P450 7A1"
                     /protein_id="NP_000771.2"
                     /db_xref="CCDS:CCDS6171.1"
                     /db_xref="GeneID:1581"
                     /db_xref="HGNC:HGNC:2651"
                     /db_xref="MIM:118455"
                     /translation="MMTTSLIWGIAIAACCCLWLILGIRRRQTGEPPLENGLIPYLGCA
                     LQFGANPLEFLRANQRKHGHVFTCKLMGKYVHFITNPLSYHKVLCHGKYFDWKKFHFAT
                     SAKAFGHRSIDPMDGNTTENINDTFIKTLQGHALNSLTESMMENLQRIMRPPVSSNSKT
                     AAWVTEGMYSFCYRVMFEAGYLTIFGRDLTRRDTQKAHILNNLDNFKQFDKVFPALVAG
                     LPIHMFRTAHNAREKLAESLRHENLQKRESISELISLRMFLNDTLSTFDDLEKAKTHLV
                     VLWASQANTIPATFWSLFQMIRNPEAMKAATEEVKRTLENAGQKVSLEGNPICLSQAEL
                     NDLPVLDSIIKESLRLSSASLNIRTAKEDFTLHLEDGSYNIRKDDIIALYPQLMHLDPE
                     IYPDPLTFKYDRYLDENGKTKTTFYCNGLKLKYYYMPFGSGATICPGRLFAIHEIKQFL
                     ILMLSYFELELIEGQAKCPPLDQSRAGLGILPPLNDIEFKYKFKHL"
     misc_feature    75..137
                     /gene="CYP7A1"
                     /gene_synonym="CP7A; CYP7; CYPVII"
                     /note="propagated from UniProtKB/Swiss-Prot (P22680.2);
                     transmembrane region"
     regulatory      2860..2865
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP7A1"
                     /gene_synonym="CP7A; CYP7; CYPVII"
                     /note="hexamer: AATAAA"
     polyA_site      2877
                     /gene="CYP7A1"
                     /gene_synonym="CP7A; CYP7; CYPVII"
                     /note="major polyA site"
ORIGIN
        1 agtggcatcc ttccctttct aatcagagat tttcttcctc agagattttg gcctagattt
       61 gcaaaatgat gaccacatct ttgatttggg ggattgctat agcagcatgc tgttgtctat
      121 ggcttattct tggaattagg agaaggcaaa cgggtgaacc acctctagag aatggattaa
      181 ttccatacct gggctgtgct ctgcaatttg gtgccaatcc tcttgagttc ctcagagcaa
      241 atcaaaggaa acatggtcat gtttttacct gcaaactaat gggaaaatat gtccatttca
      301 tcacaaatcc cttgtcatac cataaggtgt tgtgccacgg aaaatatttt gattggaaaa
      361 aatttcactt tgctacttct gcgaaggcat ttgggcacag aagcattgac ccgatggatg
      421 gaaataccac tgaaaacata aacgacactt tcatcaaaac cctgcagggc catgccttga
      481 attccctcac ggaaagcatg atggaaaacc tccaacgtat catgagacct ccagtctcct
      541 ctaactcaaa gaccgctgcc tgggtgacag aagggatgta ttctttctgc taccgagtga
      601 tgtttgaagc tgggtattta actatctttg gcagagatct tacaaggcgg gacacacaga
      661 aagcacatat tctaaacaat cttgacaact tcaagcaatt cgacaaagtc tttccagccc
      721 tggtagcagg cctccccatt cacatgttca ggactgcgca caatgcccgg gagaaactgg
      781 cagagagctt gaggcacgag aacctccaaa agagggaaag catctcagaa ctgatcagcc
      841 tgcgcatgtt tctcaatgac actttgtcca cctttgatga tctggagaag gccaagacac
      901 acctcgtggt cctctgggca tcgcaagcaa acaccattcc agcgactttc tggagtttat
      961 ttcaaatgat taggaaccca gaagcaatga aagcagctac tgaagaagtg aaaagaacat
     1021 tagagaatgc tggtcaaaaa gtcagcttgg aaggcaatcc tatttgtttg agtcaagcag
     1081 aactgaatga cctgccagta ttagatagta taatcaagga atcgctgagg ctttccagtg
     1141 cctccctcaa catccggaca gctaaggagg atttcacttt gcaccttgag gacggttcct
     1201 acaacatccg aaaagatgac atcatagctc tttacccaca gttaatgcac ttagatccag
     1261 aaatctaccc agaccctttg acttttaaat atgataggta tcttgatgaa aacgggaaga
     1321 caaagactac cttctattgt aatggactca agttaaagta ttactacatg ccctttggat
     1381 cgggagctac aatatgtcct ggaagattgt tcgctatcca cgaaatcaag caatttttga
     1441 ttctgatgct ttcttatttt gaattggagc ttatagaggg ccaagctaaa tgtccacctt
     1501 tggaccagtc ccgggcaggc ttgggcattt tgccgccatt gaatgatatt gaatttaaat
     1561 ataaattcaa gcatttgtga atacatggct ggaataagag gacactagat gatattacag
     1621 gactgcagaa caccctcacc acacagtccc tttggacaaa tgcatttagt ggtggtagaa
     1681 atgattcacc aggtccaatg ttgttcacca gtgcttgctt gtgaatctta acattttggt
     1741 gacagtttcc agatgctatc acagactctg ctagtgaaaa gaactagttt ctaggagcac
     1801 aataatttgt tttcatttgt ataagtccat gaatgttcat atagccaggg attgaagttt
     1861 attattttca aaggaaaaca cctttatttt attttttttc aaaatgaaga tacacattac
     1921 agccaggtgt ggtagcaggc acctgtagtc ttagctactc gagaggccaa agaaggagga
     1981 tggcttgagc ccaggagttc aagaccagcc tggacagctt agtgagatcc cgtctccgaa
     2041 gaaaagatat gtattctaat tggcagattg ttttttccta aggaaactgc tttattttta
     2101 taaaactgcc tgacaattat gaaaaaatgt tcaaattcac gttctagtga aactgcatta
     2161 tttgttgact agatggtggg gttcttcggg tgtgatcata tatcataaag gatatttcaa
     2221 atgattatga ttagttatgt cttttaataa aaaggaaata tttttcaact tcttctatat
     2281 ccaaaattca gggctttaaa catgattatc ttgatttccc aaaaacacta aaggtggttt
     2341 tattttccct tcatgtttta acttattgtt gctgaaaact ctatgtccgg ctttaactat
     2401 cttctctata tttttatttc attcacatta atgagaagag ttttctcaga gattaaaaaa
     2461 ggtagttttt ctgtcattgt taaatacaca ttatcactga aaaaatgtag cttttatgtg
     2521 atatgtttta aagttaaaac tggatggaaa tagccatttg gaagctttgg ttatgaaaca
     2581 tgtggagtgt attaagtgca gcttgacatt atgttttatt taaatgcttt ttatcgctaa
     2641 atgacttgca gatgaaaaaa actaaggtga ctcgagtgtt taaatgctgt gtacaacaat
     2701 gctttgataa aatattttaa gtatgagtta tcagctctat gtcaattgat atttctgtgt
     2761 agtatttata tttaaattat atttaccttt ttgcttattt tacaaatatt aagaaaatat
     2821 tctaacattt gataattttg aaatgattca tctttcagaa ataaaagtat gaatcta
//
LOCUS       NM_000781               1837 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens cytochrome P450 family 11 subfamily A member 1
            (CYP11A1), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_000781
VERSION     NM_000781.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1837)
  AUTHORS   Redouane S, Harmak H, Elkarhat Z, Charoute H, Malki A, Barakat A and
            Rouba H.
  TITLE     Exploring the impact of CYP11A1's missense SNPs on the interaction
            between CYP11A1 and cholesterol: A comprehensive structural analysis
            and MD simulation study
  JOURNAL   Comput Biol Chem 106, 107937 (2023)
   PUBMED   37552904
  REMARK    GeneRIF: Exploring the impact of CYP11A1's missense SNPs on the
            interaction between CYP11A1 and cholesterol: A comprehensive
            structural analysis and MD simulation study.
REFERENCE   2  (bases 1 to 1837)
  AUTHORS   Le BT, Duong CM, Nguyen TQ and Nguyen CM.
  TITLE     Two siblings with non-classic P450scc deficiency resulted from a
            novel mutation in CYP11A1 gene misdiagnosed as familial
            glucocorticoid deficiency
  JOURNAL   BMJ Case Rep 15 (12), e250238 (2022)
   PUBMED   36593618
  REMARK    GeneRIF: Two siblings with non-classic P450scc deficiency resulted
            from a novel mutation in CYP11A1 gene misdiagnosed as familial
            glucocorticoid deficiency. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1837)
  AUTHORS   Muccee F, Bijou O, Harakeh S, Adawiyah R, Sayyed RZ, Haghshenas L,
            Alshehri D, Ansari MJ and Ghazanfar S.
  TITLE     In-Silico Investigation of Effects of Single-Nucleotide
            Polymorphisms in PCOS-Associated CYP11A1 Gene on Mutated Proteins
  JOURNAL   Genes (Basel) 13 (7), 1231 (2022)
   PUBMED   35886014
  REMARK    GeneRIF: In-Silico Investigation of Effects of Single-Nucleotide
            Polymorphisms in PCOS-Associated CYP11A1 Gene on Mutated Proteins.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1837)
  AUTHORS   Kaur R, Kaur T, Sudhir N and Kaur A.
  TITLE     Association Analysis of CYP11A1 Variants with Polycystic Ovary
            Syndrome: a Case-Control Study from North India
  JOURNAL   Reprod Sci 28 (10), 2951-2960 (2021)
   PUBMED   34231171
  REMARK    GeneRIF: Association Analysis of CYP11A1 Variants with Polycystic
            Ovary Syndrome: a Case-Control Study from North India.
REFERENCE   5  (bases 1 to 1837)
  AUTHORS   Zhang J, Yang M, Luan P, Jia W, Liu Q, Ma Z, Dang J, Lu H, Ma Q,
            Wang Y, Mu C and Huo Z.
  TITLE     Associations Between Cytochrome P450 (CYP) Gene Single-Nucleotide
            Polymorphisms and Second-to-Fourth Digit Ratio in Chinese University
            Students
  JOURNAL   Med Sci Monit 27, e930591 (2021)
   PUBMED   33723203
  REMARK    GeneRIF: Associations Between Cytochrome P450 (CYP) Gene
            Single-Nucleotide Polymorphisms and Second-to-Fourth Digit Ratio in
            Chinese University Students. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1837)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 1837)
  AUTHORS   Wada A and Waterman MR.
  TITLE     Identification by site-directed mutagenesis of two lysine residues
            in cholesterol side chain cleavage cytochrome P450 that are
            essential for adrenodoxin binding
  JOURNAL   J Biol Chem 267 (32), 22877-22882 (1992)
   PUBMED   1429635
REFERENCE   8  (bases 1 to 1837)
  AUTHORS   Coghlan VM and Vickery LE.
  TITLE     Site-specific mutations in human ferredoxin that affect binding to
            ferredoxin reductase and cytochrome P450scc
  JOURNAL   J Biol Chem 266 (28), 18606-18612 (1991)
   PUBMED   1917982
REFERENCE   9  (bases 1 to 1837)
  AUTHORS   Sparkes RS, Klisak I and Miller WL.
  TITLE     Regional mapping of genes encoding human steroidogenic enzymes:
            P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase to
            17q24-q25; and P450c17 to 10q24-q25
  JOURNAL   DNA Cell Biol 10 (5), 359-365 (1991)
   PUBMED   1863359
REFERENCE   10  (bases 1 to 1837)
  AUTHORS   Hu MC, Guo IC, Lin JH and Chung BC.
  TITLE     Regulated expression of cytochrome P-450scc (cholesterol-side-chain
            cleavage enzyme) in cultured cell lines detected by antibody against
            bacterially expressed human protein
  JOURNAL   Biochem J 274 (Pt 3) (Pt 3), 813-817 (1991)
   PUBMED   1849407
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK292300.1, SRR5189667.171723.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2162841,
            SAMN03267755 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000268053.11/ ENSP00000268053.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX398579.2, BC032329.1 and
            AI149078.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000781.2.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the mitochondrial inner membrane and
            catalyzes the conversion of cholesterol to pregnenolone, the first
            and rate-limiting step in the synthesis of the steroid hormones.
            Two transcript variants encoding different isoforms have been found
            for this gene. The cellular location of the smaller isoform is
            unclear since it lacks the mitochondrial-targeting transit peptide.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1837
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     gene            1..1837
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /note="cytochrome P450 family 11 subfamily A member 1"
                     /db_xref="GeneID:1583"
                     /db_xref="HGNC:HGNC:2590"
                     /db_xref="MIM:118485"
     misc_feature    11..13
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /note="upstream in-frame stop codon"
     CDS             62..1627
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /EC_number="1.14.15.6"
                     /note="isoform a precursor is encoded by transcript variant
                     1; cholesterol 20-22 desmolase; cholesterol monooxygenase
                     (side-chain cleaving); steroid 20-22-lyase; cytochrome
                     P450, subfamily XIA (cholesterol side chain cleavage);
                     cholesterol side-chain cleavage enzyme, mitochondrial;
                     cytochrome P450 11A1; cytochrome P450(scc); cytochrome P450
                     family 11 subfamily A polypeptide 1"
                     /codon_start=1
                     /product="cholesterol side-chain cleavage enzyme,
                     mitochondrial isoform a precursor"
                     /protein_id="NP_000772.2"
                     /db_xref="CCDS:CCDS32291.1"
                     /db_xref="GeneID:1583"
                     /db_xref="HGNC:HGNC:2590"
                     /db_xref="MIM:118485"
                     /translation="MLAKGLPPRSVLVKGCQTFLSAPREGLGRLRVPTGEGAGISTRSP
                     RPFNEIPSPGDNGWLNLYHFWRETGTHKVHLHHVQNFQKYGPIYREKLGNVESVYVIDP
                     EDVALLFKSEGPNPERFLIPPWVAYHQYYQRPIGVLLKKSAAWKKDRVALNQEVMAPEA
                     TKNFLPLLDAVSRDFVSVLHRRIKKAGSGNYSGDISDDLFRFAFESITNVIFGERQGML
                     EEVVNPEAQRFIDAIYQMFHTSVPMLNLPPDLFRLFRTKTWKDHVAAWDVIFSKADIYT
                     QNFYWELRQKGSVHHDYRGILYRLLGDSKMSFEDIKANVTEMLAGGVDTTSMTLQWHLY
                     EMARNLKVQDMLRAEVLAARHQAQGDMATMLQLVPLLKASIKETLRLHPISVTLQRYLV
                     NDLVLRDYMIPAKTLVQVAIYALGREPTFFFDPENFDPTRWLSKDKNITYFRNLGFGWG
                     VRQCLGRRIAELEMTIFLINMLENFRVEIQHLSDVGTTFNLILMPEKPISFTFWPFNQE
                     ATQQ"
     transit_peptide 62..178
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
     mat_peptide     179..1624
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /product="cholesterol side-chain cleavage enzyme,
                     mitochondrial isoform a"
     misc_feature    1445..1447
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /note="heme binding site"
     regulatory      1819..1824
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /note="hexamer: AATAAA"
     polyA_site      1837
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /note="major polyA site"
ORIGIN
        1 acagtcatcc tagcagtccc cgctgaagtg gagcaggtac agtcacagct gtggggacag
       61 catgctggcc aagggtcttc ccccacgctc agtcctggtc aaaggctgcc agacctttct
      121 gagtgccccc agggaggggc tggggcgtct cagggtgccc actggcgagg gagctggcat
      181 ctccacccgc agtcctcgcc ccttcaatga gatcccctct cctggtgaca atggctggct
      241 aaacctgtac catttctgga gggagacggg cacacacaaa gtccaccttc accatgtcca
      301 gaatttccag aagtatggcc cgatttacag ggagaagctc ggcaacgtgg agtcggttta
      361 tgtcatcgac cctgaagatg tggcccttct ctttaagtcc gagggcccca acccagaacg
      421 attcctcatc ccgccctggg tcgcctatca ccagtattac cagagaccca taggagtcct
      481 gttgaagaag tcggcagcct ggaagaaaga ccgggtggcc ctgaaccagg aggtgatggc
      541 tccagaggcc accaagaact ttttgcccct gttggatgca gtgtctcggg acttcgtcag
      601 tgtcctgcac aggcgcatca agaaggcggg ctccggaaat tactcggggg acatcagtga
      661 tgacctgttc cgctttgcct ttgagtccat cactaacgtc atttttgggg agcgccaggg
      721 gatgctggag gaagtagtga accccgaggc ccagcgattc attgatgcca tctaccagat
      781 gttccacacc agcgtcccca tgctcaacct tcccccagac ctgttccgtc tgttcaggac
      841 caagacctgg aaggaccatg tggctgcatg ggacgtgatt ttcagtaaag ctgacatata
      901 cacccagaac ttctactggg aattgagaca gaaaggaagt gttcaccacg attaccgtgg
      961 catcctctac agactcctgg gagacagcaa gatgtccttc gaggacatca aggccaacgt
     1021 cacagagatg ctggcaggag gggtggacac gacgtccatg accctgcagt ggcacttgta
     1081 tgagatggca cgcaacctga aggtgcagga tatgctgcgg gcagaggtct tggctgcgcg
     1141 gcaccaggcc cagggagaca tggccacgat gctacagctg gtccccctcc tcaaagccag
     1201 catcaaggag acactaagac ttcaccccat ctccgtgacc ctgcagagat atcttgtaaa
     1261 tgacttggtt cttcgagatt acatgattcc tgccaagaca ctggtgcaag tggccatcta
     1321 tgctctgggc cgagagccca ccttcttctt cgacccggaa aattttgacc caacccgatg
     1381 gctgagcaaa gacaagaaca tcacctactt ccggaacttg ggctttggct ggggtgtgcg
     1441 gcagtgtctg ggacggcgga tcgctgagct agagatgacc atcttcctca tcaatatgct
     1501 ggagaacttc agagttgaaa tccaacacct cagcgatgtg ggcaccacat tcaacctcat
     1561 tctgatgcct gaaaagccca tctccttcac cttctggccc tttaaccagg aagcaaccca
     1621 gcagtgatca gagaggatgg cctgcagcca catgggagga aggcccaggg gtggggccca
     1681 tggggtctct gcatcttcag tcgtctgtcc caagtcctgc tcctttctgc ccagcctgct
     1741 cagcaggttg aatgggttct cagtggtcac cttcctcagc tcagctgggc cactcctctt
     1801 cacccacccc atggagacaa taaacagctg aaccatg
//
LOCUS       NM_000782               3278 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens cytochrome P450 family 24 subfamily A member 1
            (CYP24A1), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_000782
VERSION     NM_000782.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3278)
  AUTHORS   Wang Y, Wang R, Yuan S and Liu X.
  TITLE     Genetic polymorphisms of CYP24A1 gene and cancer susceptibility: a
            meta-analysis including 40640 subjects
  JOURNAL   World J Surg Oncol 21 (1), 279 (2023)
   PUBMED   37670334
  REMARK    GeneRIF: Genetic polymorphisms of CYP24A1 gene and cancer
            susceptibility: a meta-analysis including 40640 subjects.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3278)
  AUTHORS   Dennis C, Dillon J, Cohen DJ, Halquist MS, Pearcy AC, Schwartz Z and
            Boyan BD.
  TITLE     Local production of active vitamin D3 metabolites in breast cancer
            cells by CYP24A1 and CYP27B1
  JOURNAL   J Steroid Biochem Mol Biol 232, 106331 (2023)
   PUBMED   37244301
  REMARK    GeneRIF: Local production of active vitamin D3 metabolites in breast
            cancer cells by CYP24A1 and CYP27B1.
REFERENCE   3  (bases 1 to 3278)
  AUTHORS   Duan J, Huang D, Liu C, Lv Y, Zhang L, Chang F, Zeng X, Li L, Wang W
            and Shao G.
  TITLE     USP11-mediated LSH deubiquitination inhibits ferroptosis in
            colorectal cancer through epigenetic activation of CYP24A1
  JOURNAL   Cell Death Dis 14 (7), 402 (2023)
   PUBMED   37414755
  REMARK    GeneRIF: USP11-mediated LSH deubiquitination inhibits ferroptosis in
            colorectal cancer through epigenetic activation of CYP24A1.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3278)
  AUTHORS   Kamiya S, Nakamori Y, Takasawa A, Takasawa K, Kyuno D, Ono Y, Magara
            K and Osanai M.
  TITLE     Suppression of the vitamin D metabolizing enzyme CYP24A1 provides
            increased sensitivity to chemotherapeutic drugs in breast cancer
  JOURNAL   Oncol Rep 49 (5) (2023)
   PUBMED   36928289
  REMARK    GeneRIF: Suppression of the vitamin D metabolizing enzyme CYP24A1
            provides increased sensitivity to chemotherapeutic drugs in breast
            cancer.
REFERENCE   5  (bases 1 to 3278)
  AUTHORS   Sarria-Santamera A, Mukhtarova K, Baizhaxynova A, Kanatova K,
            Zhumambayeva S, Akilzhanova A and Azizan A.
  TITLE     Association of CYP24A1 Gene rs6127099 (A > T) Polymorphism with
            Lower Risk to COVID-19 Infection in Kazakhstan
  JOURNAL   Genes (Basel) 14 (2), 307 (2023)
   PUBMED   36833234
  REMARK    GeneRIF: Association of CYP24A1 Gene rs6127099 (A > T) Polymorphism
            with Lower Risk to COVID-19 Infection in Kazakhstan. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 3278)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 3278)
  AUTHORS   Okuda K, Usui E and Ohyama Y.
  TITLE     Recent progress in enzymology and molecular biology of enzymes
            involved in vitamin D metabolism
  JOURNAL   J Lipid Res 36 (8), 1641-1652 (1995)
   PUBMED   7595086
  REMARK    Review article
REFERENCE   8  (bases 1 to 3278)
  AUTHORS   Chen KS and DeLuca HF.
  TITLE     Cloning of the human 1 alpha,25-dihydroxyvitamin D-3 24-hydroxylase
            gene promoter and identification of two vitamin D-responsive
            elements
  JOURNAL   Biochim Biophys Acta 1263 (1), 1-9 (1995)
   PUBMED   7632726
REFERENCE   9  (bases 1 to 3278)
  AUTHORS   Chen ML, Heinrich G, Ohyama YI, Okuda K, Omdahl JL, Chen TC and
            Holick MF.
  TITLE     Expression of 25-hydroxyvitamin D3-24-hydroxylase mRNA in cultured
            human keratinocytes
  JOURNAL   Proc Soc Exp Biol Med 207 (1), 57-61 (1994)
   PUBMED   7938037
REFERENCE   10  (bases 1 to 3278)
  AUTHORS   Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and
            Morton CC.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
COMMENT     ##Evidence-Data-START##
            Transcript exon combination        :: L13286.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000216862.8/ ENSP00000216862.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138805.8, CN311231.1,
            BC109083.1, L13286.1, BI491491.1 and AW022349.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000782.4.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This mitochondrial protein initiates the degradation of
            1,25-dihydroxyvitamin D3, the physiologically active form of
            vitamin D3, by hydroxylation of the side chain. In regulating the
            level of vitamin D3, this enzyme plays a role in calcium
            homeostasis and the vitamin D endocrine system. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3278
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.2"
     gene            1..3278
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /note="cytochrome P450 family 24 subfamily A member 1"
                     /db_xref="GeneID:1591"
                     /db_xref="HGNC:HGNC:2602"
                     /db_xref="MIM:126065"
     misc_feature    339..341
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /note="upstream in-frame stop codon"
     CDS             408..1952
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /EC_number="1.14.15.16"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; 1,25-@dihydroxyvitamin D3 24-hydroxylase; vitamin D
                     24-hydroxylase; cytochrome P450, subfamily XXIV (vitamin D
                     24-hydroxylase); lncBCAS1-4_1; 1,25-dihydroxyvitamin D(3)
                     24-hydroxylase, mitochondrial; 24-OHase; exo-mitochondrial
                     protein; cytochrome P450 24A1; cytochrome P450-CC24;
                     vitamin D(3) 24-hydroxylase; cytochrome P450, family 24,
                     subfamily A, polypeptide 1"
                     /codon_start=1
                     /product="1,25-dihydroxyvitamin D(3) 24-hydroxylase,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_000773.2"
                     /db_xref="CCDS:CCDS33491.1"
                     /db_xref="GeneID:1591"
                     /db_xref="HGNC:HGNC:2602"
                     /db_xref="MIM:126065"
                     /translation="MSSPISKSRSLAAFLQQLRSPRQPPRLVTSTAYTSPQPREVPVCP
                     LTAGGETQNAAALPGPTSWPLLGSLLQILWKGGLKKQHDTLVEYHKKYGKIFRMKLGSF
                     ESVHLGSPCLLEALYRTESAYPQRLEIKPWKAYRDYRKEGYGLLILEGEDWQRVRSAFQ
                     KKLMKPGEVMKLDNKINEVLADFMGRIDELCDERGHVEDLYSELNKWSFESICLVLYEK
                     RFGLLQKNAGDEAVNFIMAIKTMMSTFGRMMVTPVELHKSLNTKVWQDHTLAWDTIFKS
                     VKACIDNRLEKYSQQPSADFLCDIYHQNRLSKKELYAAVTELQLAAVETTANSLMWILY
                     NLSRNPQVQQKLLKEIQSVLPENQVPRAEDLRNMPYLKACLKESMRLTPSVPFTTRTLD
                     KATVLGEYALPKGTVLMLNTQVLGSSEDNFEDSSQFRPERWLQEKEKINPFAHLPFGVG
                     KRMCIGRRLAELQLHLALCWIVRKYDIQATDNEPVEMLHSGTLVPSRELPIAFCQR"
     transit_peptide 408..512
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
     mat_peptide     513..1949
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /product="1,25-dihydroxyvitamin D(3) 24-hydroxylase,
                     mitochondrial isoform 1"
     regulatory      3138..3143
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /note="hexamer: AATAAA"
     polyA_site      3161
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /note="major polyA site"
     regulatory      3256..3261
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /note="hexamer: AATAAA"
     polyA_site      3278
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /note="major polyA site"
ORIGIN
        1 atggagaggg acaggaggaa acgcagcgcc agcagcatct catctaccct ccttgacacc
       61 tccccgtggc tccagccaga ccctagaggt cagccttgcg gaccaacagg aggactccca
      121 gctttccctt ttcaagaggt ccccagacac cggccaccct cttccagccc ctgcggccag
      181 tgcaaggagg caccaatgct ctgaggctgt cgcgtggtgc agcgtcgagc atcctcgccg
      241 aggtcctttc tgctgcctgt cccgcctcac cccgctccat cacaccagct ggccctcttt
      301 gcttcctttt cccagaatcg ttaagccccg actcccacta gcacctcgta ccaacctcgc
      361 cccaccccat cctcctgcct tcccgcgctc cggtgtcccc cgctgccatg agctccccca
      421 tcagcaagag ccgctcgctt gccgccttcc tgcagcagct gcgcagtccg aggcagcccc
      481 cgagactggt gacatctacg gcgtacacgt cccctcagcc gcgagaggtg ccagtctgcc
      541 cgctgacagc tggtggcgag actcagaacg cggccgccct gccgggcccc accagctggc
      601 cactgctggg cagcctgctg cagattctct ggaaaggggg tctcaagaaa cagcacgaca
      661 ccctggtgga gtaccacaag aagtatggca agattttccg catgaagttg ggttcctttg
      721 agtcggtgca cctgggctcg ccatgcctgc tggaagcgct gtaccgcacc gagagcgcgt
      781 acccgcagcg gctggagatc aaaccgtgga aggcctatcg cgactaccgc aaagaaggct
      841 acgggctgct gatcctggaa ggggaagact ggcagcgggt ccggagtgcc tttcaaaaga
      901 aactaatgaa accaggggaa gtgatgaagc tggacaacaa aatcaatgag gtcttggccg
      961 attttatggg cagaatagat gagctctgtg atgaaagagg ccacgttgaa gacttgtaca
     1021 gcgaactgaa caaatggtcg tttgaaagta tctgcctcgt gttgtatgag aagagatttg
     1081 ggcttctcca gaagaatgca ggggatgaag ctgtgaactt catcatggcc atcaaaacaa
     1141 tgatgagcac gtttgggagg atgatggtca ctccagtcga gctgcacaag agcctcaaca
     1201 ccaaggtctg gcaggaccac actctggcct gggacaccat tttcaaatca gtcaaagctt
     1261 gtatcgacaa ccggttagag aagtattctc agcagcctag tgcagatttc ctttgtgaca
     1321 tttatcacca gaatcggctt tcaaagaaag aattgtatgc tgctgtcaca gagctccagc
     1381 tggctgcggt ggaaacgaca gcaaacagtc taatgtggat tctctacaat ttatcccgta
     1441 atccccaagt gcaacaaaag cttcttaagg aaattcaaag tgtattacct gagaatcagg
     1501 tgccacgggc agaagatttg aggaatatgc cgtatttaaa agcctgtctg aaagaatcta
     1561 tgaggcttac gccgagtgta ccatttacaa ctcggactct tgacaaggca acagttctgg
     1621 gtgaatatgc tttacccaaa ggaacagtgc tcatgctaaa tacccaggtg ttgggatcca
     1681 gtgaagacaa ttttgaagat tcaagtcagt ttagacctga acgttggctt caggagaagg
     1741 aaaaaattaa tccttttgcg catcttccat ttggcgttgg aaaaagaatg tgcattggtc
     1801 gccgattagc agagcttcaa ctgcatttgg ctctttgttg gattgtccgc aaatacgaca
     1861 tccaggccac agacaatgag cctgttgaga tgctacactc aggcaccctg gtgcccagcc
     1921 gggaactccc catcgcgttt tgccagcgat aatacgcctc agatggtggt atttgctaac
     1981 atcatatcca actcagggaa gcggactgag tgctgggatc caaggcattc tacagggttc
     2041 actgctggtt tacacttcac ctgtgtcagc accatcttca ggtgcttaga atggcctggg
     2101 agcctgttct gtcttgcatc ttccatgaca tgaaagggag gctggcactt gtcagtcagg
     2161 tagaggttac aaaccgtttc aggccctgcc taccacattc actgtttgaa tctttaattc
     2221 ccaagaataa gtttacattt cacaatgaat gacctacaac agctaaattt tctggggctg
     2281 ggagtaatac tgacaatcca tttactgtag ctctgcttaa tgtactactt aggaaaatgt
     2341 ccctgcttaa taatgtaagc caagctaaat gatggttaaa gttatcaggc ctcccatgaa
     2401 attgcgttct tcctgcattg aaataaaaac attattggga aactagagaa cacctctatt
     2461 tttaaaagga ctttaacgaa gtcaaacaac ttataagact agtgattcac tggggcatta
     2521 ttttgttaga ggaccttaaa attgtttatt ttttaaatgt gattccttta tggcattagg
     2581 gtaaagatga agcaataatt tttaaattgt gtatgtgcat atgaagcaca gacatgcatg
     2641 tgtgtgtgtg tctgtgtgtg tgtgtccgtg tatgtgtgtg tgggttctaa tggtaatttg
     2701 cctcagtcat ttttttaata tttgcagtac ttgatttagg atctgtggtg cagggcaatg
     2761 tttcaaagtt tagtcacagc ttaaaaacat tcagtgtgac tttaatatta taaaatgatt
     2821 tcccatgcca taatttttct gtctattaaa tgggacaagt gtaaagcatg caaaagttag
     2881 agatctgtta tataacattt gttttgtgat ttgaactcct aggaaaaata tgatttcata
     2941 aatgtaaaat gcacagaaat gcatgcaata cttataagac ttaaaaattg tgtttacaga
     3001 tggtttattt gtgcatattt ttactactgc ttttcctaaa tgcatactgt atataattct
     3061 gtgtatttga taaatatttc ttcctacatt atatttttag aatatttcag aaatatacat
     3121 ttatgtcttt atattgtaat aaatatgtac atatctaggt atatgctttc tctctgctgt
     3181 gaaattattt ttagaattat aaattcacgt cttgtcagat ttcatctgta taccttcaaa
     3241 ttctctgaaa gtaaaaataa aagtttttaa atatttga
//
LOCUS       NM_000783               2117 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens cytochrome P450 family 26 subfamily A member 1
            (CYP26A1), transcript variant 1, mRNA.
ACCESSION   NM_000783
VERSION     NM_000783.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2117)
  AUTHORS   Yu Y, Wang Y, Zou Y and Yu Y.
  TITLE     CYP26A1 Is a Novel Cancer Biomarker of Pancreatic Carcinoma:
            Evidence from Integration Analysis and In Vitro Experiments
  JOURNAL   Dis Markers 2022, 5286820 (2022)
   PUBMED   35707714
  REMARK    GeneRIF: CYP26A1 Is a Novel Cancer Biomarker of Pancreatic
            Carcinoma: Evidence from Integration Analysis and In Vitro
            Experiments. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2117)
  AUTHORS   Wei DP, Li DD, Gu AQ, Ji WH, Yang Y and Peng JP.
  TITLE     A novel Cytochrome P450 26A1 expressing NK cell subset at the mouse
            maternal-foetal interface
  JOURNAL   J Cell Mol Med 25 (3), 1771-1782 (2021)
   PUBMED   33438367
  REMARK    GeneRIF: A novel Cytochrome P450 26A1 expressing NK cell subset at
            the mouse maternal-foetal interface.
REFERENCE   3  (bases 1 to 2117)
  AUTHORS   Guo P, Ji Z, Jiang H, Huang X, Wang C and Pan B.
  TITLE     Identification of a novel CYP26A1 mutation in a Chinese family with
            congenital microtia
  JOURNAL   Int J Pediatr Otorhinolaryngol 139, 110488 (2020)
   PUBMED   33197841
  REMARK    GeneRIF: Identification of a novel CYP26A1 mutation in a Chinese
            family with congenital microtia.
REFERENCE   4  (bases 1 to 2117)
  AUTHORS   Isoherranen N and Zhong G.
  TITLE     Biochemical and physiological importance of the CYP26 retinoic acid
            hydroxylases
  JOURNAL   Pharmacol Ther 204, 107400 (2019)
   PUBMED   31419517
  REMARK    GeneRIF: This review highlights the current knowledge of
            structure-function of CYP26 enzymes and focuses on their role in
            human retinoid metabolism in different tissues. Review article
REFERENCE   5  (bases 1 to 2117)
  AUTHORS   Chen PH, Chuang LY, Wu KC, Wang YH, Shieh TY, Sheu JJ, Chang HW and
            Yang CH.
  TITLE     Application of simulation-based CYP26 SNP-environment barcodes for
            evaluating the occurrence of oral malignant disorders by odds
            ratio-based binary particle swarm optimization: A case-control study
            in the Taiwanese population
  JOURNAL   PLoS One 14 (8), e0220719 (2019)
   PUBMED   31465460
  REMARK    GeneRIF: The combined effects of the novel CYP26 single nucleotide
            polymorphisms -environment approach may predict the risk of
            occurrence of oral malignant disorders. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 2117)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 2117)
  AUTHORS   White JA, Beckett B, Scherer SW, Herbrick JA and Petkovich M.
  TITLE     P450RAI (CYP26A1) maps to human chromosome 10q23-q24 and mouse
            chromosome 19C2-3
  JOURNAL   Genomics 48 (2), 270-272 (1998)
   PUBMED   9521883
REFERENCE   8  (bases 1 to 2117)
  AUTHORS   Ray WJ, Bain G, Yao M and Gottlieb DI.
  TITLE     CYP26, a novel mammalian cytochrome P450, is induced by retinoic
            acid and defines a new family
  JOURNAL   J Biol Chem 272 (30), 18702-18708 (1997)
   PUBMED   9228041
REFERENCE   9  (bases 1 to 2117)
  AUTHORS   White JA, Beckett-Jones B, Guo YD, Dilworth FJ, Bonasoro J, Jones G
            and Petkovich M.
  TITLE     cDNA cloning of human retinoic acid-metabolizing enzyme (hP450RAI)
            identifies a novel family of cytochromes P450
  JOURNAL   J Biol Chem 272 (30), 18538-18541 (1997)
   PUBMED   9228017
REFERENCE   10  (bases 1 to 2117)
  AUTHORS   Duell EA, Kang S and Voorhees JJ.
  TITLE     Retinoic acid isomers applied to human skin in vivo each induce a
            4-hydroxylase that inactivates only trans retinoic acid
  JOURNAL   J Invest Dermatol 106 (2), 316-320 (1996)
   PUBMED   8601734
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.42524.1, AK075374.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142853,
            SAMEA2145122 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000224356.5/ ENSP00000224356.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL358613.16.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000783.3.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This endoplasmic reticulum protein acts on retinoids, including
            all-trans-retinoic acid (RA), with both 4-hydroxylation and
            18-hydroxylation activities. This enzyme regulates the cellular
            level of retinoic acid which is involved in regulation of gene
            expression in both embryonic and adult tissues. Two alternatively
            spliced transcript variants of this gene, which encode the distinct
            isoforms, have been reported. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longer protein
            (1).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2117
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.33"
     gene            1..2117
                     /gene="CYP26A1"
                     /gene_synonym="CP26; CYP26; P450RAI; P450RAI1"
                     /note="cytochrome P450 family 26 subfamily A member 1"
                     /db_xref="GeneID:1592"
                     /db_xref="HGNC:HGNC:2603"
                     /db_xref="MIM:602239"
     CDS             43..1536
                     /gene="CYP26A1"
                     /gene_synonym="CP26; CYP26; P450RAI; P450RAI1"
                     /EC_number="1.14.-.-"
                     /note="isoform 1 is encoded by transcript variant 1; P450,
                     retinoic acid-inactivating, 1; retinoic acid-metabolizing
                     cytochrome; retinoic acid 4-hydroxylase; cytochrome P450,
                     subfamily XXVIA, polypeptide 1; cytochrome P450 26A1;
                     hP450RAI; cytochrome P450RAI; cytochrome P450 retinoic
                     acid-inactivating 1; cytochrome P450, family 26, subfamily
                     A, polypeptide 1"
                     /codon_start=1
                     /product="cytochrome P450 26A1 isoform 1"
                     /protein_id="NP_000774.2"
                     /db_xref="CCDS:CCDS7426.1"
                     /db_xref="GeneID:1592"
                     /db_xref="HGNC:HGNC:2603"
                     /db_xref="MIM:602239"
                     /translation="MGLPALLASALCTFVLPLLLFLAAIKLWDLYCVSGRDRSCALPLP
                     PGTMGFPFFGETLQMVLQRRKFLQMKRRKYGFIYKTHLFGRPTVRVMGADNVRRILLGE
                     HRLVSVHWPASVRTILGSGCLSNLHDSSHKQRKKVIMRAFSREALECYVPVITEEVGSS
                     LEQWLSCGERGLLVYPEVKRLMFRIAMRILLGCEPQLAGDGDSEQQLVEAFEEMTRNLF
                     SLPIDVPFSGLYRGMKARNLIHARIEQNIRAKICGLRASEAGQGCKDALQLLIEHSWER
                     GERLDMQALKQSSTELLFGGHETTASAATSLITYLGLYPHVLQKVREELKSKGLLCKSN
                     QDNKLDMEILEQLKYIGCVIKETLRLNPPVPGGFRVALKTFELNGYQIPKGWNVIYSIC
                     DTHDVAEIFTNKEEFNPDRFMLPHPEDASRFSFIPFGGGLRSCVGKEFAKILLKIFTVE
                     LARHCDWQLLNGPPTMKTSPTVYPVDNLPARFTHFHGEI"
     misc_feature    1366..1368
                     /gene="CYP26A1"
                     /gene_synonym="CP26; CYP26; P450RAI; P450RAI1"
                     /note="heme binding site"
     regulatory      1707..1712
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP26A1"
                     /gene_synonym="CP26; CYP26; P450RAI; P450RAI1"
                     /note="hexamer: AATAAA"
     polyA_site      1728
                     /gene="CYP26A1"
                     /gene_synonym="CP26; CYP26; P450RAI; P450RAI1"
                     /note="major polyA site"
     regulatory      2096..2101
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP26A1"
                     /gene_synonym="CP26; CYP26; P450RAI; P450RAI1"
                     /note="hexamer: AATAAA"
     polyA_site      2117
                     /gene="CYP26A1"
                     /gene_synonym="CP26; CYP26; P450RAI; P450RAI1"
                     /note="major polyA site"
ORIGIN
        1 gctggcggcg gcggcaggtg gcgcgggagg tcgcggcgcg ccatggggct cccggcgctg
       61 ctggccagtg cgctctgcac cttcgtgctg ccgctgctgc tcttcctggc tgcgatcaag
      121 ctctgggacc tgtactgcgt gagcggccgc gaccgcagtt gtgccctccc attgcccccc
      181 gggactatgg gcttcccctt ctttggggaa accttgcaga tggtactgca gcggaggaag
      241 ttcctgcaga tgaagcgcag gaaatacggc ttcatctaca agacgcatct gttcgggcgg
      301 cccaccgtac gggtgatggg cgcggacaat gtgcggcgca tcttgctcgg agagcaccgg
      361 ctggtgtcgg tccactggcc agcgtcggtg cgcaccattc tgggatctgg ctgcctctct
      421 aacctgcacg actcctcgca caagcagcgc aagaaggtga ttatgcgggc cttcagccgc
      481 gaggcactcg aatgctacgt gccggtgatc accgaggaag tgggcagcag cctggagcag
      541 tggctgagct gcggcgagcg cggcctcctg gtctaccccg aggtgaagcg cctcatgttc
      601 cgaatcgcca tgcgcatcct actgggctgc gaaccccaac tggcgggcga cggggactcc
      661 gagcagcagc ttgtggaggc cttcgaggaa atgacccgca atctcttctc gctgcccatc
      721 gacgtgccct tcagcgggct gtaccggggc atgaaggcgc ggaacctcat tcacgcgcgc
      781 atcgagcaga acattcgcgc caagatctgc gggctgcggg catccgaggc gggccagggc
      841 tgcaaagacg cgctgcagct gttgatcgag cactcgtggg agaggggaga gcggctggac
      901 atgcaggcac taaagcaatc ttcaaccgaa ctcctctttg gaggacacga aaccacggcc
      961 agtgcagcca catctctgat cacttacctg gggctctacc cacatgttct ccagaaagtg
     1021 cgagaagagc tgaagagtaa gggtttactt tgcaagagca atcaagacaa caagttggac
     1081 atggaaattt tggaacaact taaatacatc gggtgtgtta ttaaggagac ccttcgactg
     1141 aatcccccag ttccaggagg gtttcgggtt gctctgaaga cttttgaatt aaatggatac
     1201 cagattccca agggctggaa tgttatctac agtatctgtg atactcatga tgtggcagag
     1261 atcttcacca acaaggaaga atttaatcct gaccgattca tgctgcctca cccagaggat
     1321 gcatccaggt tcagcttcat tccatttgga ggaggcctta ggagctgtgt aggcaaagaa
     1381 tttgcaaaaa ttcttctcaa aatatttaca gtggagctgg ccaggcattg tgactggcag
     1441 cttctaaatg gacctcctac aatgaaaacc agtcccaccg tgtatcctgt ggacaatctc
     1501 cctgcaagat tcacccattt ccatggggaa atctgatgag cttgaatgtt caaacctgag
     1561 acttattgga agtgtacata tgagttttta aggagtgttg tgttgacttt atatttaatt
     1621 tctaaatgta tattataata tttatgtgtt ttgactatac taccacaatc tttaaatatt
     1681 aaaataatga atttgtatca tttccaaata aagtaaaatt tgaaggtact tttctggtat
     1741 tttaagattc ctgttgggta aaactcacca gtttagtatt ttcttagtgt atttaaccag
     1801 attttacaat gcctacctgg acttatttgt catctttgca tctgttttct gtgagaagaa
     1861 atcttagctg ttttttatgt taacagttat tagaaaatat atgtctgtgt gtgttattcc
     1921 agacgtatct ctgtaaattc ttctacagtc acttagattc cctatttgga aaattgatcc
     1981 aagttaattt aatttttttt tggtttgctg tactttaggg aaagatgaac ctgaaaaggt
     2041 aacactgaga actgtcactc taacctctcc agcttatcta acatgtcata aacataataa
     2101 atctgtgttg tccaata
//
LOCUS       NM_000784               1895 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens cytochrome P450 family 27 subfamily A member 1
            (CYP27A1), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000784
VERSION     NM_000784.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1895)
  AUTHORS   Wang L, Yu H, Hao L, Ju M, Feng W and Xiao R.
  TITLE     The Interaction Effect of 27-Hydroxycholesterol Metabolism Disorder
            and CYP27A1 Single Nucleotide Polymorphisms in Mild Cognitive
            Impairment: Evidence from a Case-Control Study
  JOURNAL   Mol Nutr Food Res 67 (10), e2200576 (2023)
   PUBMED   36811281
  REMARK    GeneRIF: The Interaction Effect of 27-Hydroxycholesterol Metabolism
            Disorder and CYP27A1 Single Nucleotide Polymorphisms in Mild
            Cognitive Impairment: Evidence from a Case-Control Study.
REFERENCE   2  (bases 1 to 1895)
  AUTHORS   Wang X, Shi J, Huang M, Chen J, Dan J, Tang Y, Guo Z, He X and Zhao
            Q.
  TITLE     TUBB2B facilitates progression of hepatocellular carcinoma by
            regulating cholesterol metabolism through targeting HNF4A/CYP27A1
  JOURNAL   Cell Death Dis 14 (3), 179 (2023)
   PUBMED   36872411
  REMARK    GeneRIF: TUBB2B facilitates progression of hepatocellular carcinoma
            by regulating cholesterol metabolism through targeting
            HNF4A/CYP27A1. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1895)
  AUTHORS   Zhang X, Yin X, Dai J, Sun G, Zhang H, Liang J, Zhao J, Zhu S, Chen
            J, Zhu X, Ni Y, Wang Z, Liu Z, Chen N, Shen P and Zeng H.
  TITLE     The tumor-repressing effect of CYP27A1 on renal cell carcinoma by
            27-HC arising from cholesterol metabolism
  JOURNAL   FASEB J 36 (9), e22499 (2022)
   PUBMED   35969149
  REMARK    GeneRIF: The tumor-repressing effect of CYP27A1 on renal cell
            carcinoma by 27-HC arising from cholesterol metabolism.
REFERENCE   4  (bases 1 to 1895)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   5  (bases 1 to 1895)
  AUTHORS   Guo YD, Strugnell S, Back DW and Jones G.
  TITLE     Transfected human liver cytochrome P-450 hydroxylates vitamin D
            analogs at different side-chain positions
  JOURNAL   Proc Natl Acad Sci U S A 90 (18), 8668-8672 (1993)
   PUBMED   7690968
REFERENCE   6  (bases 1 to 1895)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24501781
REFERENCE   7  (bases 1 to 1895)
  AUTHORS   Federico,A. and Gallus,G.N.
  TITLE     Cerebrotendinous Xanthomatosis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301583
REFERENCE   8  (bases 1 to 1895)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301317
REFERENCE   9  (bases 1 to 1895)
  AUTHORS   Cali JJ, Hsieh CL, Francke U and Russell DW.
  TITLE     Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase
            underlie cerebrotendinous xanthomatosis
  JOURNAL   J Biol Chem 266 (12), 7779-7783 (1991)
   PUBMED   2019602
REFERENCE   10  (bases 1 to 1895)
  AUTHORS   Cali JJ and Russell DW.
  TITLE     Characterization of human sterol 27-hydroxylase. A mitochondrial
            cytochrome P-450 that catalyzes multiple oxidation reaction in bile
            acid biosynthesis
  JOURNAL   J Biol Chem 266 (12), 7774-7778 (1991)
   PUBMED   1708392
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X59812.1, SRR3476690.1150863.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000258415.9/ ENSP00000258415.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X59812.1 and BC051851.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000784.3.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This mitochondrial protein oxidizes cholesterol intermediates as
            part of the bile synthesis pathway. Since the conversion of
            cholesterol to bile acids is the major route for removing
            cholesterol from the body, this protein is important for overall
            cholesterol homeostasis. Mutations in this gene cause
            cerebrotendinous xanthomatosis, a rare autosomal recessive lipid
            storage disease. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1895
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..1895
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /note="cytochrome P450 family 27 subfamily A member 1"
                     /db_xref="GeneID:1593"
                     /db_xref="HGNC:HGNC:2605"
                     /db_xref="MIM:606530"
     CDS             37..1632
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /EC_number="1.14.15.15"
                     /note="cytochrome P-450C27/25; sterol 27-hydroxylase;
                     vitamin D(3) 25-hydroxylase; 5-beta-cholestane-3-alpha,
                     7-alpha, 12-alpha-triol 27-hydroxylase;
                     5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol
                     26-hydroxylase; cytochrome P450, subfamily XXVIIA (steroid
                     27-hydroxylase, cerebrotendinous xanthomatosis),
                     polypeptide 1; cholestanetriol 26-monooxygenase; sterol
                     26-hydroxylase, mitochondrial; cytochrome P450 27;
                     cytochrome P450, family 27, subfamily A, polypeptide 1"
                     /codon_start=1
                     /product="sterol 26-hydroxylase, mitochondrial precursor"
                     /protein_id="NP_000775.1"
                     /db_xref="CCDS:CCDS2423.1"
                     /db_xref="GeneID:1593"
                     /db_xref="HGNC:HGNC:2605"
                     /db_xref="MIM:606530"
                     /translation="MAALGCARLRWALRGAGRGLCPHGARAKAAIPAALPSDKATGAPG
                     AGPGVRRRQRSLEEIPRLGQLRFFFQLFVQGYALQLHQLQVLYKAKYGPMWMSYLGPQM
                     HVNLASAPLLEQVMRQEGKYPVRNDMELWKEHRDQHDLTYGPFTTEGHHWYQLRQALNQ
                     RLLKPAEAALYTDAFNEVIDDFMTRLDQLRAESASGNQVSDMAQLFYYFALEAICYILF
                     EKRIGCLQRSIPEDTVTFVRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWNAIFSF
                     GKKLIDEKLEDMEAQLQAAGPDGIQVSGYLHFLLASGQLSPREAMGSLPELLMAGVDTT
                     SNTLTWALYHLSKDPEIQEALHEEVVGVVPAGQVPQHKDFAHMPLLKAVLKETLRLYPV
                     VPTNSRIIEKEIEVDGFLFPKNTQFVFCHYVVSRDPTAFSEPESFQPHRWLRNSQPATP
                     RIQHPFGSVPFGYGVRACLGRRIAELEMQLLLARLIQKYKVVLAPETGELKSVARIVLV
                     PNKKVGLQFLQRQC"
     transit_peptide 37..135
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
     mat_peptide     136..1629
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /product="sterol 26-hydroxylase, mitochondrial"
     misc_feature    883..885
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9DBG1; propagated from
                     UniProtKB/Swiss-Prot (Q02318.1); acetylation site"
     misc_feature    1186..1230
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02318.1);
                     Region: Sterol-binding. /evidence=ECO:0000255"
     misc_feature    1561..1563
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9DBG1; propagated from
                     UniProtKB/Swiss-Prot (Q02318.1); acetylation site"
     misc_feature    1594..1596
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9DBG1; propagated from
                     UniProtKB/Swiss-Prot (Q02318.1); acetylation site"
     regulatory      1868..1873
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /note="hexamer: AATAAA"
     polyA_site      1895
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /note="major polyA site"
ORIGIN
        1 actcgaccca aaggtgcagg cgcgcgagca caacccatgg ctgcgctggg ctgcgcgagg
       61 ctgaggtggg cgctgcgagg ggccggccgt ggcctctgcc cccacggggc cagagccaag
      121 gccgcgatcc ctgccgccct cccctcggac aaggccaccg gagctcccgg agccgggcct
      181 ggtgtccggc ggcggcaacg gagcttagag gagattccac gtctaggaca gctgcgcttc
      241 ttctttcagc tgttcgttca aggctatgcc ctgcaactgc accagttaca ggtgctttac
      301 aaggccaagt acggtccaat gtggatgtcc tacttagggc ctcagatgca cgtgaacctg
      361 gccagtgccc cgctcttgga gcaagtgatg cggcaagagg gcaagtaccc agtacggaac
      421 gacatggagc tatggaagga gcaccgggac cagcacgacc tgacctatgg gccgttcacc
      481 acggaaggac accactggta ccagctgcgc caggctctga accagcggtt gctgaagcca
      541 gcggaagcag cgctctatac ggatgctttc aatgaggtga ttgatgactt tatgactcga
      601 ctggaccagc tgcgggcaga gagtgcttcg gggaaccagg tgtcggacat ggctcaactc
      661 ttctactact ttgccttgga agctatttgc tacatcctgt tcgagaaacg cattggctgc
      721 ctgcagcgat ccatccccga ggacaccgtg accttcgtca gatccatcgg gttaatgttc
      781 cagaactcac tctatgccac cttcctcccc aagtggactc gccccgtgct gcctttctgg
      841 aagcgatacc tggatggttg gaatgccatc ttttcctttg ggaagaagct gattgatgag
      901 aagctcgaag atatggaggc ccaactgcag gcagcagggc cagatggcat ccaggtgtct
      961 ggctacctgc acttcttact ggccagtgga cagctcagtc ctcgggaggc catgggcagc
     1021 ctgcctgagc tgctcatggc tggagtggac acgacatcca acacgctgac atgggccctg
     1081 taccacctct caaaggaccc tgagatccag gaggccttgc acgaggaagt ggtgggtgtg
     1141 gtgccagccg ggcaagtgcc ccagcacaag gactttgccc acatgccgtt gctcaaagct
     1201 gtgcttaagg agactctgcg tctctaccct gtggtcccca caaactcccg gatcatagaa
     1261 aaggaaattg aagttgatgg cttcctcttc cccaagaaca cccagtttgt gttctgccac
     1321 tatgtggtgt cccgggaccc cactgccttc tctgagcctg aaagcttcca gccccaccgc
     1381 tggctgagaa acagccagcc tgctaccccc aggatccagc acccatttgg ctctgtgccc
     1441 tttggctatg gggtccgggc ctgcctgggc cgcaggattg cagagctgga gatgcagcta
     1501 ctcctcgcaa ggctgatcca gaagtacaag gtggtcctgg ccccggagac gggggagttg
     1561 aagagtgtgg cccgcattgt cctggttccc aataagaaag tgggcctgca gttcctgcag
     1621 agacagtgct gagctgagtc tccgccttgc tggggcttgt cctagaggct ccagctctgg
     1681 cacagtggtt cctggctgct gccatgtctc agatgaggag ggagagaagg aggccgccag
     1741 actcgagagg tgggaggaac tccttgcaca caccctgagc ttttgccact tctatcattt
     1801 ttgagcaact ccctctcagc taaaaggcca cccctttatc gcattgctgt ccttgggtag
     1861 aatataaaat aaagggactt ttatttctta ttgga
//
LOCUS       NM_000785               2372 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens cytochrome P450 family 27 subfamily B member 1
            (CYP27B1), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000785
VERSION     NM_000785.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2372)
  AUTHORS   Dennis C, Dillon J, Cohen DJ, Halquist MS, Pearcy AC, Schwartz Z and
            Boyan BD.
  TITLE     Local production of active vitamin D3 metabolites in breast cancer
            cells by CYP24A1 and CYP27B1
  JOURNAL   J Steroid Biochem Mol Biol 232, 106331 (2023)
   PUBMED   37244301
  REMARK    GeneRIF: Local production of active vitamin D3 metabolites in breast
            cancer cells by CYP24A1 and CYP27B1.
REFERENCE   2  (bases 1 to 2372)
  AUTHORS   Meaux MN, Harambat J, Rothenbuhler A, Leger J, Kamenicky P, Soskin
            S, Boyer O, Boros E, D'Anella P, Mignot B, Gebhart M, Vic P, Richard
            N, Thivichon-Prince B, Francou B, Linglart A, Bacchetta J and Molin
            A.
  TITLE     Genotype-phenotype Description of Vitamin D-dependent Rickets 1A:
            CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease
  JOURNAL   J Clin Endocrinol Metab 108 (4), 812-826 (2023)
   PUBMED   36321535
  REMARK    GeneRIF: Genotype-phenotype Description of Vitamin D-dependent
            Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
REFERENCE   3  (bases 1 to 2372)
  AUTHORS   Aftab S, Khan SA, Malik MI, Imran A, Anjum MN, Saeed A, Qureshi AA
            and Cheema HA.
  TITLE     Clinical spectrum and diagnostic challenges of vitamin D dependent
            rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource
            limited countries
  JOURNAL   J Pediatr Endocrinol Metab 36 (2), 152-157 (2022)
   PUBMED   36524979
  REMARK    GeneRIF: Clinical spectrum and diagnostic challenges of vitamin D
            dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in
            resource limited countries. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2372)
  AUTHORS   Luo M, Liu J, Yuan Y, Chen Y and Yuan G.
  TITLE     The role of vitamin D-synthesizing enzyme CYP27B1 in systemic lupus
            erythematosus
  JOURNAL   Turk J Med Sci 52 (4), 984-989 (2022)
   PUBMED   36326421
  REMARK    GeneRIF: The role of vitamin D-synthesizing enzyme CYP27B1 in
            systemic lupus erythematosus.
REFERENCE   5  (bases 1 to 2372)
  AUTHORS   Asoubar S, Esfahani A, Vahedi A, Mohammadi SM, Zarezadeh M,
            Hamedi-Kalajahi F, Ghoreishi Z and Roshanravan N.
  TITLE     Responsible enzymes for metabolizing vitamin D in patients with
            acute leukemia and the relationship with treatment outcomes: a
            case-control study
  JOURNAL   Leuk Lymphoma 63 (8), 1949-1955 (2022)
   PUBMED   35508323
  REMARK    GeneRIF: Responsible enzymes for metabolizing vitamin D in patients
            with acute leukemia and the relationship with treatment outcomes: a
            case-control study.
REFERENCE   6  (bases 1 to 2372)
  AUTHORS   Takeyama K, Kitanaka S, Sato T, Kobori M, Yanagisawa J and Kato S.
  TITLE     25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis
  JOURNAL   Science 277 (5333), 1827-1830 (1997)
   PUBMED   9295274
REFERENCE   7  (bases 1 to 2372)
  AUTHORS   Besancon F, Just J, Bourgeade MF, Van Weyenbergh J, Solomon D,
            Guillozo H, Wietzerbin J and Cayre YE.
  TITLE     HIV-1 p17 and IFN-gamma both induce fructose 1,6-bisphosphatase
  JOURNAL   J Interferon Cytokine Res 17 (8), 461-467 (1997)
   PUBMED   9282826
REFERENCE   8  (bases 1 to 2372)
  AUTHORS   Szpirer J, Szpirer C, Riviere M, Levan G, Marynen P, Cassiman JJ,
            Wiese R and DeLuca HF.
  TITLE     The Sp1 transcription factor gene (SP1) and the
            1,25-dihydroxyvitamin D3 receptor gene (VDR) are colocalized on
            human chromosome arm 12q and rat chromosome 7
  JOURNAL   Genomics 11 (1), 168-173 (1991)
   PUBMED   1662663
REFERENCE   9  (bases 1 to 2372)
  AUTHORS   Labuda M, Morgan K and Glorieux FH.
  TITLE     Mapping autosomal recessive vitamin D dependency type I to
            chromosome 12q14 by linkage analysis
  JOURNAL   Am J Hum Genet 47 (1), 28-36 (1990)
   PUBMED   1971995
REFERENCE   10  (bases 1 to 2372)
  AUTHORS   Pryke AM, Duggan C, White CP, Posen S and Mason RS.
  TITLE     Tumor necrosis factor-alpha induces vitamin D-1-hydroxylase activity
            in normal human alveolar macrophages
  JOURNAL   J Cell Physiol 142 (3), 652-656 (1990)
   PUBMED   1690216
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB005038.1, AF020192.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2145774 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000228606.9/ ENSP00000228606.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB005038.1 and AW449645.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000785.3.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            The protein encoded by this gene localizes to the inner
            mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3
            at the 1alpha position. This reaction synthesizes
            1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which
            binds to the vitamin D receptor and regulates calcium metabolism.
            Thus this enzyme regulates the level of biologically active vitamin
            D and plays an important role in calcium homeostasis. Mutations in
            this gene can result in vitamin D-dependent rickets type I.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2372
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.1"
     gene            1..2372
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR;
                     VDD1; VDDR; VDDRI; VDR"
                     /note="cytochrome P450 family 27 subfamily B member 1"
                     /db_xref="GeneID:1594"
                     /db_xref="HGNC:HGNC:2606"
                     /db_xref="MIM:609506"
     CDS             38..1564
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR;
                     VDD1; VDDR; VDDRI; VDR"
                     /EC_number="1.14.15.18"
                     /note="25-OHD-1 alpha-hydroxylase; VD3 1A hydroxylase;
                     1alpha(OH)ase; 25 hydroxyvitamin D3-1-alpha hydroxylase;
                     calcidiol 1-monooxygenase; cytochrome p450 27B1; cytochrome
                     P450C1 alpha; cytochrome P450VD1-alpha; cytochrome P450
                     subfamily XXVIIB polypeptide 1; cytochrome P450, family 27,
                     subfamily B, polypeptide 1"
                     /codon_start=1
                     /product="25-hydroxyvitamin D-1 alpha hydroxylase,
                     mitochondrial"
                     /protein_id="NP_000776.1"
                     /db_xref="CCDS:CCDS8954.1"
                     /db_xref="GeneID:1594"
                     /db_xref="HGNC:HGNC:2606"
                     /db_xref="MIM:609506"
                     /translation="MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPST
                     PSFLAELFCKGGLSRLHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEGPR
                     PERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVC
                     DLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFI
                     RAVGSVFVSTLLTMAMPHWLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGG
                     QPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQ
                     TALHSEITAALSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGD
                     YIIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGR
                     RLAELELQMALAQILTHFEVQPEPGAAPVRPKTRTVLVPERSINLQFLDR"
     misc_feature    1400..1402
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR;
                     VDD1; VDDR; VDDRI; VDR"
                     /note="heme binding site"
     regulatory      2348..2353
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR;
                     VDD1; VDDR; VDDRI; VDR"
                     /note="hexamer: AATAAA"
     polyA_site      2372
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR;
                     VDD1; VDDR; VDDRI; VDR"
                     /note="major polyA site"
ORIGIN
        1 agaagcgctt tctttcgcga gcaccctgaa ccagaccatg acccagaccc tcaagtacgc
       61 ctccagagtg ttccatcgcg tccgctgggc gcccgagttg ggcgcctccc taggctaccg
      121 agagtaccac tcagcacgcc ggagcttggc agacatccca ggcccctcta cgcccagctt
      181 tctggccgaa cttttctgca agggggggct gtcgaggcta cacgagctgc aggtgcaggg
      241 cgccgcgcac ttcgggccgg tgtggctagc cagctttggg acagtgcgca ccgtgtacgt
      301 ggctgcccct gcactcgtcg aggagctgct gcgacaggag ggaccccggc ccgagcgctg
      361 cagcttctcg ccctggacgg agcaccgccg ctgccgccag cgggcttgcg gactgctcac
      421 tgcggaaggc gaagaatggc aaaggctccg cagtctcctg gccccgctcc tcctccggcc
      481 tcaagcggcc gcccgctacg ccggaaccct gaacaacgta gtctgcgacc ttgtgcggcg
      541 tctgaggcgc cagcggggac gtggcacggg gccgcccgcc ctggttcggg acgtggcggg
      601 ggaattttac aagttcggac tggaaggcat cgccgcggtt ctgctcggct cgcgcttggg
      661 ctgcctggag gctcaagtgc cacccgacac ggagaccttc atccgcgctg tgggctcggt
      721 gtttgtgtcc acgctgttga ccatggcgat gccccactgg ctgcgccacc ttgtgcctgg
      781 gccctggggc cgcctctgcc gagactggga ccagatgttt gcatttgctc agaggcacgt
      841 ggagcggcga gaggcagagg cagccatgag gaacggagga cagcccgaga aggacctgga
      901 gtctggggcg cacctgaccc acttcctgtt ccgggaagag ttgcctgccc agtccatcct
      961 gggaaatgtg acagagttgc tattggcggg agtggacacg gtgtccaaca cgctctcttg
     1021 ggctctgtat gagctctccc ggcaccccga agtccagaca gcactccact cagagatcac
     1081 agctgccctg agccctggct ccagtgccta cccctcagcc actgttctgt cccagctgcc
     1141 cctgctgaag gcggtggtca aggaagtgct aagactgtac cctgtggtac ctggaaattc
     1201 tcgtgtccca gacaaagaca ttcatgtggg tgactatatt atccccaaaa atacgctggt
     1261 cactctgtgt cactatgcca cttcaaggga ccctgcccag ttcccagagc caaattcttt
     1321 tcgtccagct cgctggctgg gggagggtcc caccccccac ccatttgcat ctcttccctt
     1381 tggctttggc aagcgcagct gtatggggag acgcctggca gagcttgaat tgcaaatggc
     1441 tttggcccag atcctaacac attttgaggt gcagcctgag ccaggtgcgg ccccagttag
     1501 acccaagacc cggactgtcc tggtacctga aaggagcatc aacctacagt ttttggacag
     1561 atagtcccat ggaaagagac tgtcatcatc accctttcat tcatcatagg gataagattt
     1621 tttgtaggca caagaccaag gtatacatct tcccctaatg cctatctgac caaactggat
     1681 agaaccacca tagtgaagtg tgaggcggcc ctgaccaatg tgtgaagtat gcacttggcc
     1741 tgactcagga agccaggtga gaaaaccatg gtctctctgc ttgcttggcc cttctgatca
     1801 tgtatgcatc ccccaaggat gaaatcagat tttaactaat aatgctggat ggcctgagga
     1861 aagattcaac tgcctctctt tttgggcttt catagtgttc attgatgctg ctggctaagc
     1921 atttatcaaa gcataagctc agtaactgtg catctggtct gtacctggtt ggtccttcgt
     1981 ctttgcatgt aagctctttg agaggaaggg tgaagcctta tttgtttttt atgtcccctg
     2041 ccagggcctg tctctgacta ggtgtcacca tacacattct tagattgaat ctgaaccatg
     2101 tggcagaagg gataagcagc ttacttagta ggctctgtct acccccttcc ttctttgtct
     2161 tgcccctagg aaggtgaatc tgccctagcc tggtttacgg tttcttataa ctctcctttg
     2221 ctctctggcc actattaagt gggtttgccc catcacttag ttctcaggca gagacatctt
     2281 tgggcctgtc cctgcccagg cctctggctt tttatattga aaatttttaa atattcacaa
     2341 attttagaat aaatcaaata ttccattctt ga
//
LOCUS       NM_000786               3155 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens cytochrome P450 family 51 subfamily A member 1
            (CYP51A1), transcript variant 1, mRNA.
ACCESSION   NM_000786
VERSION     NM_000786.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3155)
  AUTHORS   Yin J, Fu J, Shao Y, Xu J, Li H, Chen C, Zhao Y, Zheng Z, Yu C,
            Zheng L and Wang B.
  TITLE     CYP51-mediated cholesterol biosynthesis is required for the
            proliferation of CD4+ T cells in Sjogren's syndrome
  JOURNAL   Clin Exp Med 23 (5), 1691-1711 (2023)
   PUBMED   36413274
  REMARK    GeneRIF: CYP51-mediated cholesterol biosynthesis is required for the
            proliferation of CD4[+] T cells in Sjogren's syndrome.
REFERENCE   2  (bases 1 to 3155)
  AUTHORS   McCarty KD, Sullivan ME, Tateishi Y, Hargrove TY, Lepesheva GI and
            Guengerich FP.
  TITLE     Processive kinetics in the three-step lanosterol
            14alpha-demethylation reaction catalyzed by human cytochrome P450
            51A1
  JOURNAL   J Biol Chem 299 (7), 104841 (2023)
   PUBMED   37209823
  REMARK    GeneRIF: Processive kinetics in the three-step lanosterol
            14alpha-demethylation reaction catalyzed by human cytochrome P450
            51A1.
REFERENCE   3  (bases 1 to 3155)
  AUTHORS   Jing Y, Usai R, Liu Y and Kincaid JR.
  TITLE     Revealing substrate-induced structural changes in active site of
            human CYP51 in the presence of its physiological substrates
  JOURNAL   J Inorg Biochem 242, 112167 (2023)
   PUBMED   36870163
  REMARK    GeneRIF: Revealing substrate-induced structural changes in active
            site of human CYP51 in the presence of its physiological substrates.
REFERENCE   4  (bases 1 to 3155)
  AUTHORS   Lamb DC, Hargrove TY, Zhao B, Wawrzak Z, Goldstone JV, Nes WD, Kelly
            SL, Waterman MR, Stegeman JJ and Lepesheva GI.
  TITLE     Concerning P450 Evolution: Structural Analyses Support Bacterial
            Origin of Sterol 14alpha-Demethylases
  JOURNAL   Mol Biol Evol 38 (3), 952-967 (2021)
   PUBMED   33031537
  REMARK    GeneRIF: Concerning P450 Evolution: Structural Analyses Support
            Bacterial Origin of Sterol 14alpha-Demethylases.
REFERENCE   5  (bases 1 to 3155)
  AUTHORS   Hargrove TY, Wawrzak Z, Guengerich FP and Lepesheva GI.
  TITLE     A requirement for an active proton delivery network supports a
            compound I-mediated C-C bond cleavage in CYP51 catalysis
  JOURNAL   J Biol Chem 295 (29), 9998-10007 (2020)
   PUBMED   32493730
  REMARK    GeneRIF: A requirement for an active proton delivery network
            supports a compound I-mediated C-C bond cleavage in CYP51 catalysis.
REFERENCE   6  (bases 1 to 3155)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 3155)
  AUTHORS   Rozman D, Stromstedt M and Waterman MR.
  TITLE     The three human cytochrome P450 lanosterol 14 alpha-demethylase
            (CYP51) genes reside on chromosomes 3, 7, and 13: structure of the
            two retrotransposed pseudogenes, association with a line-1 element,
            and evolution of the human CYP51 family
  JOURNAL   Arch Biochem Biophys 333 (2), 466-474 (1996)
   PUBMED   8809088
REFERENCE   8  (bases 1 to 3155)
  AUTHORS   Stromstedt M, Rozman D and Waterman MR.
  TITLE     The ubiquitously expressed human CYP51 encodes lanosterol 14
            alpha-demethylase, a cytochrome P450 whose expression is regulated
            by oxysterols
  JOURNAL   Arch Biochem Biophys 329 (1), 73-81 (1996)
   PUBMED   8619637
REFERENCE   9  (bases 1 to 3155)
  AUTHORS   Aoyama Y, Noshiro M, Gotoh O, Imaoka S, Funae Y, Kurosawa N,
            Horiuchi T and Yoshida Y.
  TITLE     Sterol 14-demethylase P450 (P45014DM*) is one of the most ancient
            and conserved P450 species
  JOURNAL   J Biochem 119 (5), 926-933 (1996)
   PUBMED   8797093
REFERENCE   10  (bases 1 to 3155)
  AUTHORS   Aoyama Y, Funae Y, Noshiro M, Horiuchi T and Yoshida Y.
  TITLE     Occurrence of a P450 showing high homology to yeast lanosterol
            14-demethylase (P450(14DM)) in the rat liver
  JOURNAL   Biochem Biophys Res Commun 201 (3), 1320-1326 (1994)
   PUBMED   8024575
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.163286.1, U23942.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000003100.13/ ENSP00000003100.8
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U23942.1 and AC000120.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000786.3.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This endoplasmic reticulum protein participates in the synthesis of
            cholesterol by catalyzing the removal of the 14alpha-methyl group
            from lanosterol. Homologous genes are found in all three eukaryotic
            phyla, fungi, plants, and animals, suggesting that this is one of
            the oldest cytochrome P450 genes. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Mar 2009].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3155
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.2"
     gene            1..3155
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /note="cytochrome P450 family 51 subfamily A member 1"
                     /db_xref="GeneID:1595"
                     /db_xref="HGNC:HGNC:2649"
                     /db_xref="MIM:601637"
     misc_feature    111..113
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /note="upstream in-frame stop codon"
     CDS             114..1643
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /EC_number="1.14.14.154"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; sterol 14-alpha demethylase; cytochrome P450, 51
                     (lanosterol 14-alpha-demethylase); lanosterol 14-alpha
                     demethylase; CYPLI; cytochrome P450LI; cytochrome P45014DM;
                     cytochrome P450 51A1; cytochrome P450-14DM; cytochrome
                     P450, family 51, subfamily A, polypeptide 1"
                     /codon_start=1
                     /product="lanosterol 14-alpha demethylase isoform 1
                     precursor"
                     /protein_id="NP_000777.1"
                     /db_xref="CCDS:CCDS5623.1"
                     /db_xref="GeneID:1595"
                     /db_xref="HGNC:HGNC:2649"
                     /db_xref="MIM:601637"
                     /translation="MAAAAGMLLLGLLQAGGSVLGQAMEKVTGGNLLSMLLIACAFTLS
                     LVYLIRLAAGHLVQLPAGVKSPPYIFSPIPFLGHAIAFGKSPIEFLENAYEKYGPVFSF
                     TMVGKTFTYLLGSDAAALLFNSKNEDLNAEDVYSRLTTPVFGKGVAYDVPNPVFLEQKK
                     MLKSGLNIAHFKQHVSIIEKETKEYFESWGESGEKNVFEALSELIILTASHCLHGKEIR
                     SQLNEKVAQLYADLDGGFSHAAWLLPGWLPLPSFRRRDRAHREIKDIFYKAIQKRRQSQ
                     EKIDDILQTLLDATYKDGRPLTDDEVAGMLIGLLLAGQHTSSTTSAWMGFFLARDKTLQ
                     KKCYLEQKTVCGENLPPLTYDQLKDLNLLDRCIKETLRLRPPIMIMMRMARTPQTVAGY
                     TIPPGHQVCVSPTVNQRLKDSWVERLDFNPDRYLQDNPASGEKFAYVPFGAGRHRCIGE
                     NFAYVQIKTIWSTMLRLYEFDLIDGYFPTVNYTTMIHTPENPVIRYKRRSK"
     sig_peptide     114..176
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    201..263
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16850.4);
                     transmembrane region"
     regulatory      3134..3139
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /note="hexamer: ATTAAA"
     polyA_site      3155
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /note="major polyA site"
ORIGIN
        1 agtaggagac ctggggcaag gccccctgtg gacgaccatc tgccagcttc tctcgttccg
       61 tcgattggga ggagcggtgg cgacctcggc cttcagtgtt tccgacggag tgaatggcgg
      121 cggcggctgg gatgctgctg ctgggcttgc tgcaggcggg tgggtcggtg ctgggccagg
      181 cgatggagaa ggtgacaggc ggcaacctct tgtccatgct gctgatcgcc tgcgccttca
      241 ccctcagcct ggtctacctg atccgtctgg ccgccggcca cctggtccag ctgcccgcag
      301 gggtgaaaag tcctccatac attttctccc caattccatt ccttgggcat gccatagcat
      361 ttgggaaaag tccaattgaa tttctagaaa atgcatatga gaagtatgga cctgtattta
      421 gttttaccat ggtaggcaag acatttactt accttctggg gagtgatgct gctgcactgc
      481 tttttaatag taaaaatgaa gacctgaatg cagaagatgt ctacagtcgc ctgacaacac
      541 ctgtgtttgg gaagggagtt gcatacgatg tgcctaatcc agttttcttg gagcagaaga
      601 aaatgttaaa aagtggcctt aacatagccc actttaaaca gcatgtttct ataattgaaa
      661 aagaaacaaa ggaatacttt gagagttggg gagaaagtgg agaaaaaaat gtgtttgaag
      721 ctctttctga gctcataatt ttaacagcta gccattgttt gcatggaaag gaaatcagaa
      781 gtcaactcaa tgaaaaggta gcacagctgt atgcagattt ggatggaggt ttcagccatg
      841 cagcctggct cttaccaggt tggctgcctt tgcctagttt cagacgcagg gacagagctc
      901 atcgggaaat caaggatatt ttctataagg caatccagaa acgcagacag tctcaagaaa
      961 aaattgatga cattctccaa actttactag atgctacata caaggatggg cgtcctttga
     1021 ctgatgatga agtagcaggg atgcttattg gattactctt ggcagggcag catacatcct
     1081 caactactag tgcttggatg ggcttctttt tggccagaga caaaacactt caaaaaaaat
     1141 gttatttaga acagaaaaca gtctgtggag agaatctgcc tcctttaact tatgaccagc
     1201 tcaaggatct aaatttactt gatcgctgta taaaagaaac attaagactt agacctccta
     1261 taatgatcat gatgagaatg gccagaactc ctcagactgt ggcagggtat accattcctc
     1321 caggacatca ggtgtgtgtt tctcccactg tcaatcaaag acttaaagac tcatgggtag
     1381 aacgcctgga ctttaatcct gatcgctact tacaggataa cccagcatca ggggaaaagt
     1441 ttgcctatgt gccatttgga gctgggcgtc atcgttgtat tggggaaaat tttgcctatg
     1501 ttcaaattaa gacaatttgg tccactatgc ttcgtttata tgaatttgat ctcattgatg
     1561 gatactttcc cactgtgaat tatacaacta tgattcacac ccctgaaaac ccagttatcc
     1621 gttacaaacg aagatcaaaa tgaaaaaggt tgcaaggaac gaatatatgt gattatcact
     1681 gtaagccaca aaggcattcg aagagaatga agtgtacaaa acaactcttg tagtttactg
     1741 tttttttaag tgtgtaattc taaaagccag tttatgattt aggattttgt taactgaatg
     1801 gttctatcaa atataatagc atttgaaaca ttttctaata gttatgatac ttatacatgt
     1861 gctttcagga agttccttgg tgaaacaatt gttgaggggg gatctaggta attggcagat
     1921 tctaaataat ataatttcca gatagtaatt ttaagagtac tcatcgctct tgccaaataa
     1981 gttcagggta ttcaaatctt ggactagtcc tgcaaggtat aaagaataaa aatcccagtg
     2041 agatacttgg aaaccacagt ttattattat ttatctgggc aattattgtg tgtgtgagga
     2101 tggaagggta gggaataatc gaacatctaa agccttgaat aagagaatac taattgtttt
     2161 ggtatgatga tactcagaaa tggagatatt ataggaaaaa gaaatccttt ggaattttaa
     2221 ctaaaatcac tgcatatggg aaattaagag atccaggacc atatttgata agagttccta
     2281 aaaataatgt aattattaat gctaaagact gctcatgtat cttgatctaa ttactaaata
     2341 attacatatt tatttacctg ataaatatgt atctagttct acaaggtcac atttatgtgg
     2401 aagtccaaag tcaagtcctt aggggataat tttgttttgg ctcagttgtt ccctgcttcc
     2461 tttttttttt tttttttttg agatggagtc tcgctctgtt gcccaggctg gagtgcagtg
     2521 gtgcgatctc agctcactgc atcctctgcc tcccgggttc aagcaattct ctgcctcagc
     2581 ctcccaagta gttgggatta caggcacctg ccaccatgcc tggctaattt tttgtatttt
     2641 tagtagagac gggggtttca ctatgttggc taggctggtc ttgaactcct gacctcgtga
     2701 tccacccgcc ttggcctccc aaagtgctgg gattacaggc atgagccacc gcacctggcc
     2761 ttccctgctt cctctctaga atccaattag ggatgtttgt tactactcat attgattaaa
     2821 acagttaaca aacttttttc tttttaaaat gtgagatcag tgaactctgg ttttaagata
     2881 atctgaaaca aggtccttgg gagtaataaa attggtcaca ttctgtaaag cacattctgt
     2941 ttaggaatca acttatctca aattgtaact cggggcctaa ctatatgaga tggctgaaaa
     3001 aataccacat cgtctgtttt cactaggtga tgccaaaata ttttgcttta tgtatattac
     3061 agttcttttt aaaacactgg aagactcatg ttaaactcta attgtgaagg cagaatctct
     3121 gctaattttt cagattaaaa ttctctttga aaaaa
//
LOCUS       NM_000787               2745 bp    mRNA    linear   PRI 07-JUL-2023
DEFINITION  Homo sapiens dopamine beta-hydroxylase (DBH), mRNA.
ACCESSION   NM_000787
VERSION     NM_000787.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2745)
  AUTHORS   Juarez-Cedillo T, Martinez-Rodriguez N, Fragoso JM, Islas-Perez V,
            Lopez-Martinez A and Valle-Medina A.
  TITLE     Multifactor Dimensionality Reduction Analysis to Evaluate the
            Association of Dopamine Beta-Hydroxylase (DBetaH) Polymorphisms with
            Susceptibility to Dementia (SADEM Study)
  JOURNAL   Mol Neurobiol 60 (8), 4731-4737 (2023)
   PUBMED   37148523
  REMARK    GeneRIF: Multifactor Dimensionality Reduction Analysis to Evaluate
            the Association of Dopamine Beta-Hydroxylase (DBetaH) Polymorphisms
            with Susceptibility to Dementia (SADEM Study).
REFERENCE   2  (bases 1 to 2745)
  AUTHORS   Wongpaiboonwattana W, Hnoonual A and Limprasert P.
  TITLE     Association between 19-bp Insertion/Deletion Polymorphism of
            Dopamine beta-Hydroxylase and Autism Spectrum Disorder in Thai
            Patients
  JOURNAL   Medicina (Kaunas) 58 (9), 1228 (2022)
   PUBMED   36143905
  REMARK    GeneRIF: Association between 19-bp Insertion/Deletion Polymorphism
            of Dopamine beta-Hydroxylase and Autism Spectrum Disorder in Thai
            Patients. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2745)
  AUTHORS   Kimura N, Shiga K, Kaneko KI, Oki Y, Sugisawa C, Saito J, Tawara S,
            Akahori H, Sogabe S, Yamashita T, Takekoshi K, Naruse M and Katabami
            T.
  TITLE     Immunohistochemical Expression of Choline Acetyltransferase and
            Catecholamine-Synthesizing Enzymes in Head-and-Neck and
            Thoracoabdominal Paragangliomas and Pheochromocytomas
  JOURNAL   Endocr Pathol 32 (4), 442-451 (2021)
   PUBMED   34743284
  REMARK    GeneRIF: Immunohistochemical Expression of Choline Acetyltransferase
            and Catecholamine-Synthesizing Enzymes in Head-and-Neck and
            Thoracoabdominal Paragangliomas and Pheochromocytomas.
REFERENCE   4  (bases 1 to 2745)
  AUTHORS   Hui L, Hu WM, Zhu ZH, Gao ST, Han M, Fan Y, Tian Q, Yin XY, Yuan Y,
            Jiang CX, Yin GZ, Jia QF and Zhang XY.
  TITLE     Association between dopamine beta-hydroxylase polymorphism and
            attention function in suicide attempters with chronic schizophrenia
  JOURNAL   Hum Psychopharmacol 35 (6), 1-8 (2020)
   PUBMED   32896003
  REMARK    GeneRIF: Association between dopamine beta-hydroxylase polymorphism
            and attention function in suicide attempters with chronic
            schizophrenia.
REFERENCE   5  (bases 1 to 2745)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 2745)
  AUTHORS   Garland,E.M. and Biaggioni,I.
  TITLE     Dopamine Beta-Hydroxylase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301647
REFERENCE   7  (bases 1 to 2745)
  AUTHORS   Kobayashi K, Kurosawa Y, Fujita K and Nagatsu T.
  TITLE     Human dopamine beta-hydroxylase gene: two mRNA types having
            different 3'-terminal regions are produced through alternative
            polyadenylation
  JOURNAL   Nucleic Acids Res 17 (3), 1089-1102 (1989)
   PUBMED   2922261
REFERENCE   8  (bases 1 to 2745)
  AUTHORS   Craig SP, Buckle VJ, Lamouroux A, Mallet J and Craig IW.
  TITLE     Localization of the human dopamine beta hydroxylase (DBH) gene to
            chromosome 9q34
  JOURNAL   Cytogenet Cell Genet 48 (1), 48-50 (1988)
   PUBMED   3180847
REFERENCE   9  (bases 1 to 2745)
  AUTHORS   Lamouroux A, Vigny A, Faucon Biguet N, Darmon MC, Franck R, Henry JP
            and Mallet J.
  TITLE     The primary structure of human dopamine-beta-hydroxylase: insights
            into the relationship between the soluble and the membrane-bound
            forms of the enzyme
  JOURNAL   EMBO J 6 (13), 3931-3937 (1987)
   PUBMED   3443096
REFERENCE   10  (bases 1 to 2745)
  AUTHORS   Saxena,A., Hensley,P., Osborne,J.C. Jr. and Fleming,P.J.
  TITLE     The pH-dependent subunit dissociation and catalytic activity of
            bovine dopamine beta-hydroxylase
  JOURNAL   J Biol Chem 260 (6), 3386-3392 (1985)
   PUBMED   3972830
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.149515.1, BC017174.2
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145122,
            SAMEA2145544 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000393056.8/ ENSP00000376776.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL365494.17, CD014125.1,
            X13255.1 and BC017174.2.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000787.3.
            Summary: The protein encoded by this gene is an oxidoreductase
            belonging to the copper type II, ascorbate-dependent monooxygenase
            family. The encoded protein, expressed in neuroscretory vesicles
            and chromaffin granules of the adrenal medulla, catalyzes the
            conversion of dopamine to norepinephrine, which functions as both a
            hormone and as the main neurotransmitter of the sympathetic nervous
            system. The enzyme encoded by this gene exists exists in both
            soluble and membrane-bound forms, depending on the absence or
            presence, respectively, of a signal peptide. Mutations in this gene
            cause dopamine beta-hydroxylate deficiency in human patients,
            characterized by deficits in autonomic and cardiovascular function,
            including hypotension and ptosis. Polymorphisms in this gene may
            play a role in a variety of psychiatric disorders. [provided by
            RefSeq, Aug 2017].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2745
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.2"
     gene            1..2745
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /note="dopamine beta-hydroxylase"
                     /db_xref="GeneID:1621"
                     /db_xref="HGNC:HGNC:2689"
                     /db_xref="MIM:609312"
     CDS             10..1863
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /EC_number="1.14.17.1"
                     /note="dopamine beta-hydroxylase (dopamine
                     beta-monooxygenase)"
                     /codon_start=1
                     /product="dopamine beta-hydroxylase precursor"
                     /protein_id="NP_000778.3"
                     /db_xref="CCDS:CCDS6977.2"
                     /db_xref="GeneID:1621"
                     /db_xref="HGNC:HGNC:2689"
                     /db_xref="MIM:609312"
                     /translation="MPALSRWASLPGPSMREAAFMYSTAVAIFLVILVAALQGSAPRES
                     PLPYHIPLDPEGSLELSWNVSYTQEAIHFQLLVRRLKAGVLFGMSDRGELENADLVVLW
                     TDGDTAYFADAWSDQKGQIHLDPQQDYQLLQVQRTPEGLTLLFKRPFGTCDPKDYLIED
                     GTVHLVYGILEEPFRSLEAINGSGLQMGLQRVQLLKPNIPEPELPSDACTMEVQAPNIQ
                     IPSQETTYWCYIKELPKGFSRHHIIKYEPIVTKGNEALVHHMEVFQCAPEMDSVPHFSG
                     PCDSKMKPDRLNYCRHVLAAWALGAKAFYYPEEAGLAFGGPGSSRYLRLEVHYHNPLVI
                     EGRNDSSGIRLYYTAKLRRFNAGIMELGLVYTPVMAIPPRETAFILTGYCTDKCTQLAL
                     PPSGIHIFASQLHTHLTGRKVVTVLVRDGREWEIVNQDNHYSPHFQEIRMLKKVVSVHP
                     GDVLITSCTYNTEDRELATVGGFGILEEMCVNYVHYYPQTQLELCKSAVDAGFLQKYFH
                     LINRFNNEDVCTCPQASVSQQFTSVPWNSFNRDVLKALYSFAPISMHCNKSSAVRFQGE
                     WNLQPLPKVISTLEEPTPQCPTSQGRSPAGPTVVSIGGGKG"
     sig_peptide     10..126
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
     misc_feature    58..120
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P09172.3);
                     transmembrane region"
     misc_feature    124..129
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /note="Cleavage. /evidence=ECO:0000250|UniProtKB:P15101;
                     propagated from UniProtKB/Swiss-Prot (P09172.3); cleavage
                     site"
     mat_peptide     127..1860
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /product="dopamine beta-hydroxylase"
     misc_feature    199..201
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255, ECO:0000269|PubMed:27152332,
                     ECO:0007744|PDB:4ZEL; propagated from UniProtKB/Swiss-Prot
                     (P09172.3); glycosylation site"
     misc_feature    559..561
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:27152332,
                     ECO:0007744|PDB:4ZEL; propagated from UniProtKB/Swiss-Prot
                     (P09172.3); glycosylation site"
     misc_feature    1705..1707
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:27152332,
                     ECO:0007744|PDB:4ZEL; propagated from UniProtKB/Swiss-Prot
                     (P09172.3); glycosylation site"
     misc_feature    1777..1860
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P09172.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2721..2726
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /note="hexamer: AATAAA"
     polyA_site      2745
                     /gene="DBH"
                     /gene_synonym="DBM; ORTHYP1"
                     /note="major polyA site"
ORIGIN
        1 accccagcca tgcccgccct cagtcgctgg gccagcctgc ccggccccag catgcgggag
       61 gcagccttca tgtacagcac agcagtggcc atcttcctgg tcatcctggt ggccgcactg
      121 cagggctcgg ctccccgtga gagccccctc ccctatcaca tccccctgga cccggagggg
      181 tccctggagc tctcatggaa tgtcagctac acccaggagg ccatccattt ccagctcctg
      241 gtgcggaggc tcaaggctgg cgtcctgttt gggatgtccg accgtggcga gcttgagaac
      301 gcagatctcg tggtgctctg gaccgatggg gacactgcct attttgcgga cgcctggagt
      361 gaccagaagg ggcagatcca cctggatccc cagcaggact accagctgct gcaggtgcag
      421 aggaccccag aaggcctgac cctgcttttc aagaggccct ttggcacctg cgaccccaag
      481 gattacctca ttgaagacgg cactgtccac ttggtctacg ggatcctgga ggagccgttc
      541 cggtcactgg aggccatcaa cggctcgggc ctgcagatgg ggctgcagag ggtgcagctc
      601 ctgaagccca atatccccga accggagttg ccctcagacg cgtgcaccat ggaggtccaa
      661 gctcccaata tccagatccc cagccaggag accacgtact ggtgctacat taaggagctt
      721 ccaaagggct tctctcggca ccacattatc aagtacgagc ccatcgtcac caagggcaat
      781 gaggcccttg tccaccacat ggaagtcttc cagtgcgccc ccgagatgga cagcgtcccc
      841 cacttcagcg ggccctgcga ctccaagatg aaacccgacc gcctcaacta ctgccgccac
      901 gtgctggccg cctgggccct gggtgccaag gcattttact acccagagga agccggcctt
      961 gccttcgggg gtccagggtc ctccagatat ctccgcctgg aagttcacta ccacaaccca
     1021 ctggtgatag aaggacgaaa cgactcctca ggcatccgct tgtactacac agccaagctg
     1081 cggcgcttca acgcggggat catggagctg ggactggtgt acacgccagt gatggccatt
     1141 ccaccacggg agaccgcctt catcctcact ggctactgca cggacaagtg cacccagctg
     1201 gcactgcctc cctccgggat ccacatcttc gcctctcagc tccacacaca cctgactggg
     1261 agaaaggtgg tcacagtgct ggtccgggac ggccgggagt gggagatcgt gaaccaggac
     1321 aatcactaca gccctcactt ccaggagatc cgcatgttga agaaggtcgt gtcggtccat
     1381 ccgggagatg tgctcatcac ctcctgcacg tacaacacag aagaccggga gctggccaca
     1441 gtggggggct tcgggatcct ggaggagatg tgtgtcaact acgtgcacta ctacccccag
     1501 acgcagctgg agctctgcaa gagcgctgtg gacgccggct tcctgcagaa gtacttccac
     1561 ctcatcaaca ggttcaacaa cgaggatgtc tgcacctgcc ctcaggcgtc cgtgtctcag
     1621 cagttcacct ctgttccctg gaactccttc aaccgcgacg tactgaaggc cctgtacagc
     1681 ttcgcgccca tctccatgca ctgcaacaag tcctcagccg tccgcttcca gggtgaatgg
     1741 aacctgcagc ccctgcccaa ggtcatctcc acactggaag agcccacccc acagtgcccc
     1801 accagccagg gccgaagccc tgctggcccc accgttgtca gcattggtgg gggcaaaggc
     1861 tgagggggga cctactcctc cccctcctcc atgctgtccc tgtgggctca caccggcact
     1921 gtgcactcta ctctgcgacg atccccatgg aacagccctg cacgcccagg atgaaggggc
     1981 cagaccacgc ccctgcctga gaccacggtc caatccagcc ttcttccccc agggtcccct
     2041 gcatggctga gagggtgtgg gtgccctgtt gacctaccct ggaccgagtg gaccacgacc
     2101 tcgtccattt aaacccggct gactcagtgc agggacagcc tgcacagtgg tccagggtcc
     2161 agccctccgc cagccctgtt ccgcctcact gggtgtggcc tggcttctgg gacaggcacc
     2221 atgctgggcc ggggtgtgga atcaccggga acgcccccgc ccccgccccg ctgctcccgg
     2281 tgtgcagcgg gtgcgggtgc cgcttaaaca tttccctgct gagtggctcg tgtttcacag
     2341 tgggcggctt ccctgcgacg gaggcaggac caggcattta gctagttaga gactcgcctg
     2401 ggaaattgct ccattcctga gtaaacagat attttcgccc acctaaaggg aagccctgac
     2461 aacaactatc accaaaagac gaggcggcaa agatccagcg gggcttctgg gcgccggttc
     2521 cacgtggggt ggaattatta gcaccagctt gcttctctgc cggtggggcc agcgctgaac
     2581 agaccggggt ggagtcaggg ctgtgctttc cgcgtggttc tgccacttag ggagtgtgcc
     2641 ttgggcgggc catttcacat tcctgaccct cacttttctc atctgtaaaa ccaggctgat
     2701 gccgtgcggg ctaatgagcc aataaagctc acacttgggc tggca
//
LOCUS       NM_000788               2506 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens deoxycytidine kinase (DCK), mRNA.
ACCESSION   NM_000788
VERSION     NM_000788.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2506)
  AUTHORS   Yoshida K, Fujita A, Narazaki H, Asano T and Itoh Y.
  TITLE     Drug resistance to nelarabine in leukemia cell lines might be caused
            by reduced expression of deoxycytidine kinase through epigenetic
            mechanisms
  JOURNAL   Cancer Chemother Pharmacol 89 (1), 83-91 (2022)
   PUBMED   34825941
  REMARK    GeneRIF: Drug resistance to nelarabine in leukemia cell lines might
            be caused by reduced expression of deoxycytidine kinase through
            epigenetic mechanisms.
REFERENCE   2  (bases 1 to 2506)
  AUTHORS   Hosokawa M, Seiki R, Iwakawa S and Ogawara KI.
  TITLE     Combination of azacytidine and curcumin is a potential alternative
            in decitabine-resistant colorectal cancer cells with attenuated
            deoxycytidine kinase
  JOURNAL   Biochem Biophys Res Commun 578, 157-162 (2021)
   PUBMED   34571370
  REMARK    GeneRIF: Combination of azacytidine and curcumin is a potential
            alternative in decitabine-resistant colorectal cancer cells with
            attenuated deoxycytidine kinase.
REFERENCE   3  (bases 1 to 2506)
  AUTHORS   Hellendahl KF, Fehlau M, Hans S, Neubauer P and Kurreck A.
  TITLE     Semi-Automated High-Throughput Substrate Screening Assay for
            Nucleoside Kinases
  JOURNAL   Int J Mol Sci 22 (21), 11558 (2021)
   PUBMED   34768989
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2506)
  AUTHORS   Wu B, Mao ZJ, Wang Z, Wu P, Huang H, Zhao W, Zhang L, Zhang Z, Yin
            H, Gale RP and Yin B.
  TITLE     Deoxycytidine Kinase (DCK) Mutations in Human Acute Myeloid Leukemia
            Resistant to Cytarabine
  JOURNAL   Acta Haematol 144 (5), 534-541 (2021)
   PUBMED   33626530
  REMARK    GeneRIF: Deoxycytidine Kinase (DCK) Mutations in Human Acute Myeloid
            Leukemia Resistant to Cytarabine. Erratum:[Acta Haematol.
            2022;145(1):112. PMID: 37490868]
REFERENCE   5  (bases 1 to 2506)
  AUTHORS   Attia F, Fathy S, Anani M, Hassan A, Attia F, Ibrahim G and Elazab
            M.
  TITLE     Human equilibrative nucleoside transporter-1 and deoxycytidine
            kinase can predict gemcitabine effectiveness in Egyptian patients
            with Hepatocellular carcinoma
  JOURNAL   J Clin Lab Anal 34 (11), e23457 (2020)
   PUBMED   32671914
  REMARK    GeneRIF: Human equilibrative nucleoside transporter-1 and
            deoxycytidine kinase can predict gemcitabine effectiveness in
            Egyptian patients with Hepatocellular carcinoma.
REFERENCE   6  (bases 1 to 2506)
  AUTHORS   Eriksson S, Cederlund E, Bergman T, Jornvall H and Bohman C.
  TITLE     Characterization of human deoxycytidine kinase. Correlation with
            cDNA sequences
  JOURNAL   FEBS Lett 280 (2), 363-366 (1991)
   PUBMED   2013338
REFERENCE   7  (bases 1 to 2506)
  AUTHORS   Chottiner EG, Shewach DS, Datta NS, Ashcraft E, Gribbin D, Ginsburg
            D, Fox IH and Mitchell BS.
  TITLE     Cloning and expression of human deoxycytidine kinase cDNA
  JOURNAL   Proc Natl Acad Sci U S A 88 (4), 1531-1535 (1991)
   PUBMED   1996353
REFERENCE   8  (bases 1 to 2506)
  AUTHORS   Datta NS, Shewach DS, Mitchell BS and Fox IH.
  TITLE     Kinetic properties and inhibition of human T lymphoblast
            deoxycytidine kinase
  JOURNAL   J Biol Chem 264 (16), 9359-9364 (1989)
   PUBMED   2542307
REFERENCE   9  (bases 1 to 2506)
  AUTHORS   Datta NS, Shewach DS, Hurley MC, Mitchell BS and Fox IH.
  TITLE     Human T-lymphoblast deoxycytidine kinase: purification and
            properties
  JOURNAL   Biochemistry 28 (1), 114-123 (1989)
   PUBMED   2539852
REFERENCE   10  (bases 1 to 2506)
  AUTHORS   Bohman C and Eriksson S.
  TITLE     Deoxycytidine kinase from human leukemic spleen: preparation and
            characteristics of homogeneous enzyme
  JOURNAL   Biochemistry 27 (12), 4258-4265 (1988)
   PUBMED   2844225
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC103764.1, SRR1660803.117849.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000286648.10/ ENSP00000286648.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI601939.1, CD014016.1 and
            BC103764.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000788.2.
            Summary:  Deoxycytidine kinase (DCK) is required for the
            phosphorylation of several deoxyribonucleosides and their
            nucleoside analogs.  Deficiency of DCK is associated with
            resistance to antiviral and anticancer chemotherapeutic agents.
            Conversely, increased deoxycytidine kinase activity is associated
            with increased activation of these compounds to cytotoxic
            nucleoside triphosphate derivatives.  DCK is clinically important
            because of its relationship to drug resistance and sensitivity.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2506
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     gene            1..2506
                     /gene="DCK"
                     /note="deoxycytidine kinase"
                     /db_xref="GeneID:1633"
                     /db_xref="HGNC:HGNC:2704"
                     /db_xref="MIM:125450"
     misc_feature    182..184
                     /gene="DCK"
                     /note="upstream in-frame stop codon"
     CDS             188..970
                     /gene="DCK"
                     /EC_number="2.7.1.74"
                     /EC_number="2.7.1.113"
                     /EC_number="2.7.1.76"
                     /note="deoxynucleoside kinase; deoxyadenosine kinase;
                     deoxyguanosine kinase"
                     /codon_start=1
                     /product="deoxycytidine kinase"
                     /protein_id="NP_000779.1"
                     /db_xref="CCDS:CCDS3548.1"
                     /db_xref="GeneID:1633"
                     /db_xref="HGNC:HGNC:2704"
                     /db_xref="MIM:125450"
                     /translation="MATPPKRSCPSFSASSEGTRIKKISIEGNIAAGKSTFVNILKQLC
                     EDWEVVPEPVARWCNVQSTQDEFEELTMSQKNGGNVLQMMYEKPERWSFTFQTYACLSR
                     IRAQLASLNGKLKDAEKPVLFFERSVYSDRYIFASNLYESECMNETEWTIYQDWHDWMN
                     NQFGQSLELDGIIYLQATPETCLHRIYLRGRNEEQGIPLEYLEKLHYKHESWLLHRTLK
                     TNFDYLQEVPILTLDVNEDFKDKYESLVEKVKEFLSTL"
     misc_feature    218..220
                     /gene="DCK"
                     /note="Phosphoserine, by CK1.
                     /evidence=ECO:0000305|PubMed:20637175; propagated from
                     UniProtKB/Swiss-Prot (P27707.1); phosphorylation site"
     misc_feature    230..232
                     /gene="DCK"
                     /note="Phosphoserine, by CK1.
                     /evidence=ECO:0000305|PubMed:20637175; propagated from
                     UniProtKB/Swiss-Prot (P27707.1); phosphorylation site"
     misc_feature    401..403
                     /gene="DCK"
                     /note="Phosphothreonine, by CK1.
                     /evidence=ECO:0000305|PubMed:20637175; propagated from
                     UniProtKB/Swiss-Prot (P27707.1); phosphorylation site"
     misc_feature    407..409
                     /gene="DCK"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:20637175,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P27707.1); phosphorylation site"
     regulatory      2471..2476
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCK"
                     /note="hexamer: AATAAA"
     polyA_site      2506
                     /gene="DCK"
                     /note="major polyA site"
ORIGIN
        1 agtgtcctca gctgcctccg cgcgccaaag tcaaaccccg acacccgccg gcgggccggt
       61 gagctcacta gctgacccgg caggtcagga tctggcttag cggcgccgcg agctccagtg
      121 cgcgcacccg tggccgcctc ccagccctct ttgccggacg agctctgggc cgccacaaga
      181 ctaaggaatg gccaccccgc ccaagagaag ctgcccgtct ttctcagcca gctctgaggg
      241 gacccgcatc aagaaaatct ccatcgaagg gaacatcgct gcagggaagt caacatttgt
      301 gaatatcctt aaacaattgt gtgaagattg ggaagtggtt cctgaacctg ttgccagatg
      361 gtgcaatgtt caaagtactc aagatgaatt tgaggaactt acaatgtctc agaaaaatgg
      421 tgggaatgtt cttcagatga tgtatgagaa acctgaacga tggtctttta ccttccaaac
      481 atatgcctgt ctcagtcgaa taagagctca gcttgcctct ctgaatggca agctcaaaga
      541 tgcagagaaa cctgtattat tttttgaacg atctgtgtat agtgacaggt atatttttgc
      601 atctaatttg tatgaatctg aatgcatgaa tgagacagag tggacaattt atcaagactg
      661 gcatgactgg atgaataacc aatttggcca aagccttgaa ttggatggaa tcatttatct
      721 tcaagccact ccagagacat gcttacatag aatatattta cggggaagaa atgaagagca
      781 aggcattcct cttgaatatt tagagaagct tcattataaa catgaaagct ggctcctgca
      841 taggacactg aaaaccaact tcgattatct tcaagaggtg cctatcttaa cactggatgt
      901 taatgaagac tttaaagaca aatatgaaag tctggttgaa aaggtcaaag agtttttgag
      961 tactttgtga tcttgctgaa gactacaggc agccaaatgg ttccagatac ttcagctttg
     1021 tgtatcttcg taacttcata ttaatataag tttctttaga aaacccaagt ttttaatcgt
     1081 ttttgtttta aggaaaaaag atttttaaaa tgaatcttat gcaaaacttt ttgaccagtt
     1141 tcttttcttt tgtttttttt ttaaaaaaga catttaaaga caaagacatt atttctcata
     1201 gcaggaaatg tagaggtaga tggttccagt atcagcatag tgactaaact acattataaa
     1261 agatccagct tccttctgtc attcccctct tttgtcttcc tcagcaggtt ggcttttttc
     1321 cctggtgcct ctcacttcgt tggtgaccag tttcttaaac tgaaagcttt aatgttacat
     1381 agtaaatggt agtgtgtcct gtgtaaatta gtgtacctat taaaagttgc aaagtggaat
     1441 taaaggaatc cctagaataa ggattctgaa gttttatttt aaattattat cttcttaaca
     1501 gtttagtccc acctcttact tcctgcctca gtctgctttc tctactgtct ggattaatta
     1561 ggcagcctgc tataaagtta aagtcacaca tttctatttt gcaaacactg tgattactct
     1621 ttgctttgta gtttgctttg ctttgtaggg ttctgctttt aagtttttct ctttttcaga
     1681 caaattactg ataaaaatga tattgctcta tatgtaatat atcctgaaag cattattttt
     1741 tgttgaatag gaaataaaat taatgaagac agaggctaga aagcatccat taattaatga
     1801 gacacactta actacttatc tctaaaccat ctatgtgaat atttgtaaaa ataatgaatg
     1861 gactcatctt agttctgtat ataaatatat tttctttcta gtttgtttag ttaaggtgtg
     1921 cagtgttttt cctgtgtatt aaacctttcc attttacgtt ttagaaaatt ttatgtattt
     1981 taaaataagg ggaagagtca ttttcacttt taaactacta tttttctttc caagtcattt
     2041 ttgtttttgg tttcttattc aaagatgata atttagtgga ttaaccagtc cagacgcact
     2101 gatctttgca aaggagactt aatttcaaat ctgtaattac catacataaa ctgtctcatt
     2161 atacgtatgc atttttttag tttgtttttg tttggtataa attaatttgt taattaaata
     2221 tttcttaagt ataaacctta tgaactacag tggagctaca ctcattgaaa tgtaatttca
     2281 gttctaaaaa gatgtaataa tcattttaga attaaaattt attctacttt taaataaatt
     2341 atgaatatta aaggtgaaaa ttgtataaat tactttgatt ccattttaag tggagacata
     2401 tttcagtgat ttttagtaac ctttaaaaat gtataatgac ttttaaaatt tgtagaattg
     2461 aaaagacgct aataaaaatt tattatttat ttgtcatgac tcaaaa
//
LOCUS       NM_000789               4962 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens angiotensin I converting enzyme (ACE), transcript
            variant 1, mRNA.
ACCESSION   NM_000789
VERSION     NM_000789.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4962)
  AUTHORS   Elbasan O, Bayram F, Yazan CD, Apaydin T, Dashdamirova S, Polat H,
            Arslan E, Yilmaz I, Karimi N, Sengel BE, Yilmaz SS, Celik OF, Ata P,
            Haklar G and Gozu H.
  TITLE     Angiotensin-Converting Enzyme (ACE) level, but not ACE gene
            polymorphism, is associated with prognosis of COVID-19 infection:
            Implications for diabetes and hypertension
  JOURNAL   PLoS One 18 (7), e0288338 (2023)
   PUBMED   37432962
  REMARK    GeneRIF: Angiotensin-Converting Enzyme (ACE) level, but not ACE gene
            polymorphism, is associated with prognosis of COVID-19 infection:
            Implications for diabetes and hypertension. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 4962)
  AUTHORS   Sheikhian F, Sadeghi Mofrad S, Tarashi S, Ghazanfari Jajin M,
            Sakhaee F, Ahmadi I, Anvari E, Sheikhpour M and Fateh A.
  TITLE     The impact of ACE2 polymorphisms (rs1978124, rs2285666, and
            rs2074192) and ACE1 rs1799752 in the mortality rate of COVID-19 in
            different SARS-CoV-2 variants
  JOURNAL   Hum Genomics 17 (1), 54 (2023)
   PUBMED   37328914
  REMARK    GeneRIF: The impact of ACE2 polymorphisms (rs1978124, rs2285666, and
            rs2074192) and ACE1 rs1799752 in the mortality rate of COVID-19 in
            different SARS-CoV-2 variants. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4962)
  AUTHORS   Birhan TA, Molla MD and Tesfa KH.
  TITLE     The effect of angiotensin converting enzyme gene insertion/deletion
            polymorphism on anthropometric and biochemical parameters among
            hypertension patients: A case-control study from Northwest Ethiopia
  JOURNAL   PLoS One 18 (5), e0285618 (2023)
   PUBMED   37200278
  REMARK    GeneRIF: The effect of angiotensin converting enzyme gene
            insertion/deletion polymorphism on anthropometric and biochemical
            parameters among hypertension patients: A case-control study from
            Northwest Ethiopia. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4962)
  AUTHORS   Gasser B, Niederseer D, Frey WO, Catuogno S and Fluck M.
  TITLE     ACE-I/D Allele Modulates Improvements of Cardiorespiratory Function
            and Muscle Performance with Interval-Type Exercise
  JOURNAL   Genes (Basel) 14 (5), 1100 (2023)
   PUBMED   37239460
  REMARK    GeneRIF: ACE-I/D Allele Modulates Improvements of Cardiorespiratory
            Function and Muscle Performance with Interval-Type Exercise.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4962)
  AUTHORS   Lin CY, Lee HL, Chen CW, Wang C, Sung FC and Su TC.
  TITLE     The role of angiotensin I-converting enzyme gene polymorphism and
            global DNA methylation in the negative associations between urine
            di-(2-ethylhexyl) phthalate metabolites and serum adiponectin in a
            young Taiwanese population
  JOURNAL   Clin Epigenetics 15 (1), 87 (2023)
   PUBMED   37198693
  REMARK    GeneRIF: The role of angiotensin I-converting enzyme gene
            polymorphism and global DNA methylation in the negative associations
            between urine di-(2-ethylhexyl) phthalate metabolites and serum
            adiponectin in a young Taiwanese population. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 4962)
  AUTHORS   Ghafouri-Fard S, Noroozi R, Omrani MD, Branicki W, Pospiech E, Sayad
            A, Pyrc K, Labaj PP, Vafaee R, Taheri M and Sanak M.
  TITLE     Angiotensin converting enzyme: A review on expression profile and
            its association with human disorders with special focus on
            SARS-CoV-2 infection
  JOURNAL   Vascul Pharmacol 130, 106680 (2020)
   PUBMED   32423553
  REMARK    Review article
REFERENCE   7  (bases 1 to 4962)
  AUTHORS   Cambien F, Poirier O, Lecerf L, Evans A, Cambou JP, Arveiler D, Luc
            G, Bard JM, Bara L, Ricard S et al.
  TITLE     Deletion polymorphism in the gene for angiotensin-converting enzyme
            is a potent risk factor for myocardial infarction
  JOURNAL   Nature 359 (6396), 641-644 (1992)
   PUBMED   1328889
REFERENCE   8  (bases 1 to 4962)
  AUTHORS   Wei L, Clauser E, Alhenc-Gelas F and Corvol P.
  TITLE     The two homologous domains of human angiotensin I-converting enzyme
            interact differently with competitive inhibitors
  JOURNAL   J Biol Chem 267 (19), 13398-13405 (1992)
   PUBMED   1320019
REFERENCE   9  (bases 1 to 4962)
  AUTHORS   Erdos,E.G., Johnson,A.R. and Boyden,N.T.
  TITLE     Hydrolysis of enkephalin by cultured human endothelial cells and by
            purified peptidyl dipeptidase
  JOURNAL   Biochem Pharmacol 27 (5), 843-848 (1978)
   PUBMED   656131
REFERENCE   10  (bases 1 to 4962)
  AUTHORS   Sancho,J., Re,R., Burton,J., Barger,A.C. and Haber,E.
  TITLE     The role of the renin-angiotensin-aldosterone system in
            cardiovascular homeostasis in normal human subjects
  JOURNAL   Circulation 53 (3), 400-405 (1976)
   PUBMED   174834
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: J04144.1, AB208971.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related         :: relevant for disease process
            MANE Ensembl match          :: ENST00000290866.10/ ENSP00000290866.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK296566.1, AB208971.1 and
            AC113554.9.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000789.3.
            Summary: This gene encodes an enzyme involved in blood pressure
            regulation and electrolyte balance. It catalyzes the conversion of
            angiotensin I into a physiologically active peptide angiotensin II.
            Angiotensin II is a potent vasopressor and aldosterone-stimulating
            peptide that controls blood pressure and fluid-electrolyte balance.
            This angiotensin converting enzyme (ACE) also inactivates the
            vasodilator protein, bradykinin. Accordingly, the encoded enzyme
            increases blood pressure and is a drug target of ACE inhibitors,
            which are often prescribed to reduce blood pressure. This enzyme
            additionally plays a role in fertility through its ability to
            cleave and release GPI-anchored membrane proteins in spermatozoa.
            Many studies have associated the presence or absence of a 287 bp
            Alu repeat element in this gene with the levels of circulating
            enzyme. This polymorphism, as well as mutations in this gene, have
            been implicated in a wide variety of diseases including
            cardiovascular pathophysiologies, psoriasis, renal disease, stroke,
            and Alzheimer's disease. Regulation of the homologous ACE2 gene may
            be involved in progression of disease caused by several human
            coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative
            splicing results in multiple transcript variants encoding both
            somatic (sACE) and male-specific testicular (tACE) isoforms.
            [provided by RefSeq, Sep 2020].
            Transcript Variant: This variant (1), also known as the endothelial
            or somatic form, represents the longest transcript and encodes the
            longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4962
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     gene            1..4962
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="angiotensin I converting enzyme"
                     /db_xref="GeneID:1636"
                     /db_xref="HGNC:HGNC:2707"
                     /db_xref="MIM:106180"
     CDS             35..3955
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /EC_number="3.4.15.1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; kininase II; CD143 antigen; peptidase P;
                     carboxycathepsin; dipeptidyl carboxypeptidase 1; dipeptidyl
                     carboxypeptidase I; angiotensin I converting enzyme
                     (peptidyl-dipeptidase A) 1"
                     /codon_start=1
                     /product="angiotensin-converting enzyme isoform 1
                     precursor"
                     /protein_id="NP_000780.1"
                     /db_xref="CCDS:CCDS11637.1"
                     /db_xref="GeneID:1636"
                     /db_xref="HGNC:HGNC:2707"
                     /db_xref="MIM:106180"
                     /translation="MGAASGRRGPGLLLPLPLLLLLPPQPALALDPGLQPGNFSADEAG
                     AQLFAQSYNSSAEQVLFQSVAASWAHDTNITAENARRQEEAALLSQEFAEAWGQKAKEL
                     YEPIWQNFTDPQLRRIIGAVRTLGSANLPLAKRQQYNALLSNMSRIYSTAKVCLPNKTA
                     TCWSLDPDLTNILASSRSYAMLLFAWEGWHNAAGIPLKPLYEDFTALSNEAYKQDGFTD
                     TGAYWRSWYNSPTFEDDLEHLYQQLEPLYLNLHAFVRRALHRRYGDRYINLRGPIPAHL
                     LGDMWAQSWENIYDMVVPFPDKPNLDVTSTMLQQGWNATHMFRVAEEFFTSLELSPMPP
                     EFWEGSMLEKPADGREVVCHASAWDFYNRKDFRIKQCTRVTMDQLSTVHHEMGHIQYYL
                     QYKDLPVSLRRGANPGFHEAIGDVLALSVSTPEHLHKIGLLDRVTNDTESDINYLLKMA
                     LEKIAFLPFGYLVDQWRWGVFSGRTPPSRYNFDWWYLRTKYQGICPPVTRNETHFDAGA
                     KFHVPNVTPYIRYFVSFVLQFQFHEALCKEAGYEGPLHQCDIYRSTKAGAKLRKVLQAG
                     SSRPWQEVLKDMVGLDALDAQPLLKYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDN
                     YPEGIDLVTDEAEASKFVEEYDRTSQVVWNEYAEANWNYNTNITTETSKILLQKNMQIA
                     NHTLKYGTQARKFDVNQLQNTTIKRIIKKVQDLERAALPAQELEEYNKILLDMETTYSV
                     ATVCHPNGSCLQLEPDLTNVMATSRKYEDLLWAWEGWRDKAGRAILQFYPKYVELINQA
                     ARLNGYVDAGDSWRSMYETPSLEQDLERLFQELQPLYLNLHAYVRRALHRHYGAQHINL
                     EGPIPAHLLGNMWAQTWSNIYDLVVPFPSAPSMDTTEAMLKQGWTPRRMFKEADDFFTS
                     LGLLPVPPEFWNKSMLEKPTDGREVVCHASAWDFYNGKDFRIKQCTTVNLEDLVVAHHE
                     MGHIQYFMQYKDLPVALREGANPGFHEAIGDVLALSVSTPKHLHSLNLLSSEGGSDEHD
                     INFLMKMALDKIAFIPFSYLVDQWRWRVFDGSITKENYNQEWWSLRLKYQGLCPPVPRT
                     QGDFDPGAKFHIPSSVPYIRYFVSFIIQFQFHEALCQAAGHTGPLHKCDIYQSKEAGQR
                     LATAMKLGFSRPWPEAMQLITGQPNMSASAMLSYFKPLLDWLRTENELHGEKLGWPQYN
                     WTPNSARSEGPLPDSGRVSFLGLDLDAQQARVGQWLLLFLGIALLVATLGLSQRLFSIR
                     HRSLHRHSHGPQFGSEVELRHS"
     sig_peptide     35..121
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     122..3952
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /product="angiotensin-converting enzyme isoform 1"
     mat_peptide     122..3730
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /product="Angiotensin-converting enzyme, soluble form.
                     /evidence=ECO:0000305|PubMed:10769174. /id=PRO_0000028531"
                     /note="propagated from UniProtKB/Swiss-Prot (P12821.1)"
     misc_feature    146..148
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20826823,
                     ECO:0000305|PubMed:9013598; propagated from
                     UniProtKB/Swiss-Prot (P12821.1); glycosylation site"
     misc_feature    194..196
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16476442,
                     ECO:0000269|PubMed:20826823, ECO:0000269|PubMed:9013598;
                     propagated from UniProtKB/Swiss-Prot (P12821.1);
                     glycosylation site"
     misc_feature    254..256
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16476442,
                     ECO:0000269|PubMed:20826823, ECO:0000269|PubMed:26403559,
                     ECO:0007744|PDB:3NXQ; propagated from UniProtKB/Swiss-Prot
                     (P12821.1); glycosylation site"
     misc_feature    341..343
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21810173,
                     ECO:0000269|PubMed:24297181, ECO:0000269|PubMed:8626443,
                     ECO:0007744|PDB:4C2O; propagated from UniProtKB/Swiss-Prot
                     (P12821.1); glycosylation site"
     misc_feature    365..367
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:20826823, ECO:0000269|PubMed:9013598;
                     propagated from UniProtKB/Swiss-Prot (P12821.1);
                     glycosylation site"
     misc_feature    395..397
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:8626443; propagated from
                     UniProtKB/Swiss-Prot (P12821.1); glycosylation site"
     misc_feature    452..454
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21810173,
                     ECO:0000269|PubMed:24297181, ECO:0000269|PubMed:8626443,
                     ECO:0007744|PDB:4C2O; propagated from UniProtKB/Swiss-Prot
                     (P12821.1); glycosylation site"
     misc_feature    470..472
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16476442,
                     ECO:0000269|PubMed:20826823, ECO:0000269|PubMed:9013598;
                     propagated from UniProtKB/Swiss-Prot (P12821.1);
                     glycosylation site"
     misc_feature    512..514
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20826823; propagated from
                     UniProtKB/Swiss-Prot (P12821.1); glycosylation site"
     misc_feature    986..988
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16476442; propagated from
                     UniProtKB/Swiss-Prot (P12821.1); glycosylation site"
     misc_feature    1136..1138
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:8626443; propagated from
                     UniProtKB/Swiss-Prot (P12821.1); glycosylation site"
     misc_feature    1367..1369
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:20826823, ECO:0000269|PubMed:26403559,
                     ECO:0007744|PDB:3NXQ; propagated from UniProtKB/Swiss-Prot
                     (P12821.1); glycosylation site"
     misc_feature    1559..1561
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:16476442, ECO:0000269|PubMed:20826823,
                     ECO:0000269|PubMed:26403559, ECO:0000269|PubMed:9013598,
                     ECO:0007744|PDB:3NXQ; propagated from UniProtKB/Swiss-Prot
                     (P12821.1); glycosylation site"
     misc_feature    1601..1603
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="Not glycosylated.
                     /evidence=ECO:0000269|PubMed:20826823; propagated from
                     UniProtKB/Swiss-Prot (P12821.1); other site"
     misc_feature    1883..1885
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:8626443; propagated from
                     UniProtKB/Swiss-Prot (P12821.1); glycosylation site"
     misc_feature    2063..2065
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:23056909,
                     ECO:0007744|PDB:4APH; propagated from UniProtKB/Swiss-Prot
                     (P12821.1); glycosylation site"
     misc_feature    2117..2119
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:9013598; propagated from
                     UniProtKB/Swiss-Prot (P12821.1); glycosylation site"
     misc_feature    2174..2176
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:23056909,
                     ECO:0000269|PubMed:9013598, ECO:0007744|PDB:4APH;
                     propagated from UniProtKB/Swiss-Prot (P12821.1);
                     glycosylation site"
     misc_feature    2312..2314
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine, partial.
                     /evidence=ECO:0000269|PubMed:9013598; propagated from
                     UniProtKB/Swiss-Prot (P12821.1); glycosylation site"
     misc_feature    2858..2860
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine, partial.
                     /evidence=ECO:0000269|PubMed:9013598; propagated from
                     UniProtKB/Swiss-Prot (P12821.1); glycosylation site"
     misc_feature    3530..3535
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="Cleavage. /evidence=ECO:0000269|PubMed:7499427,
                     ECO:0000269|PubMed:8253769; propagated from
                     UniProtKB/Swiss-Prot (P12821.1); cleavage site"
     misc_feature    3605..3607
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="N-linked (GlcNAc...) asparagine, partial.
                     /evidence=ECO:0000269|PubMed:9013598; propagated from
                     UniProtKB/Swiss-Prot (P12821.1); glycosylation site"
     misc_feature    3677..3802
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P12821.1);
                     Region: Juxtamembrane stalk.
                     /evidence=ECO:0000269|PubMed:11274151"
     misc_feature    3707..3709
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="Not glycosylated.
                     /evidence=ECO:0000269|PubMed:9013598; propagated from
                     UniProtKB/Swiss-Prot (P12821.1); other site"
     misc_feature    3728..3733
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="Cleavage. /evidence=ECO:0000269|PubMed:10769174;
                     propagated from UniProtKB/Swiss-Prot (P12821.1); cleavage
                     site"
     misc_feature    3803..3865
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P12821.1);
                     transmembrane region"
     misc_feature    3929..3931
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:12386153,
                     ECO:0000269|PubMed:21901117; propagated from
                     UniProtKB/Swiss-Prot (P12821.1); phosphorylation site"
     regulatory      4188..4193
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="hexamer: ATTAAA"
     polyA_site      4209
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="major polyA site"
     regulatory      4936..4941
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
                     /note="hexamer: AATAAA"
     polyA_site      4962
                     /gene="ACE"
                     /gene_synonym="ACE1; CD143; DCP; DCP1"
ORIGIN
        1 agaaggggca gagccgagca ccgcgcaccg cgtcatgggg gccgcctcgg gccgccgggg
       61 gccggggctg ctgctgccgc tgccgctgct gttgctgctg ccgccgcagc ccgccctggc
      121 gttggacccc gggctgcagc ccggcaactt ttctgctgac gaggccgggg cgcagctctt
      181 cgcgcagagc tacaactcca gcgccgaaca ggtgctgttc cagagcgtgg ccgccagctg
      241 ggcgcacgac accaacatca ccgcggagaa tgcaaggcgc caggaggaag cagccctgct
      301 cagccaggag tttgcggagg cctggggcca gaaggccaag gagctgtatg aaccgatctg
      361 gcagaacttc acggacccgc agctgcgcag gatcatcgga gctgtgcgca ccctgggctc
      421 tgccaacctg cccctggcta agcggcagca gtacaacgcc ctgctaagca acatgagcag
      481 gatctactcc accgccaagg tctgcctccc caacaagact gccacctgct ggtccctgga
      541 cccagatctc accaacatcc tggcttcctc gcgaagctac gccatgctcc tgtttgcctg
      601 ggagggctgg cacaacgctg cgggcatccc gctgaaaccg ctgtacgagg atttcactgc
      661 cctcagcaat gaagcctaca agcaggacgg cttcacagac acgggggcct actggcgctc
      721 ctggtacaac tcccccacct tcgaggacga tctggaacac ctctaccaac agctagagcc
      781 cctctacctg aacctccatg ccttcgtccg ccgcgcactg catcgccgat acggagacag
      841 atacatcaac ctcaggggac ccatccctgc tcatctgctg ggagacatgt gggcccagag
      901 ctgggaaaac atctacgaca tggtggtgcc tttcccagac aagcccaacc tcgatgtcac
      961 cagtactatg ctgcagcagg gctggaacgc cacgcacatg ttccgggtgg cagaggagtt
     1021 cttcacctcc ctggagctct cccccatgcc tcccgagttc tgggaagggt cgatgctgga
     1081 gaagccggcc gacgggcggg aagtggtgtg ccacgcctcg gcttgggact tctacaacag
     1141 gaaagacttc aggatcaagc agtgcacacg ggtcacgatg gaccagctct ccacagtgca
     1201 ccatgagatg ggccatatac agtactacct gcagtacaag gatctgcccg tctccctgcg
     1261 tcggggggcc aaccccggct tccatgaggc cattggggac gtgctggcgc tctcggtctc
     1321 cactcctgaa catctgcaca aaatcggcct gctggaccgt gtcaccaatg acacggaaag
     1381 tgacatcaat tacttgctaa aaatggcact ggaaaaaatt gccttcctgc cctttggcta
     1441 cttggtggac cagtggcgct ggggggtctt tagtgggcgt accccccctt cccgctacaa
     1501 cttcgactgg tggtatcttc gaaccaagta tcaggggatc tgtcctcctg ttacccgaaa
     1561 cgaaacccac tttgatgctg gagctaagtt tcatgttcca aatgtgacac catacatcag
     1621 gtactttgtg agttttgtcc tgcagttcca gttccatgaa gccctgtgca aggaggcagg
     1681 ctatgagggc ccactgcacc agtgtgacat ctaccggtcc accaaggcag gggccaagct
     1741 ccggaaggtg ctgcaggctg gctcctccag gccctggcag gaggtgctga aggacatggt
     1801 cggcttagat gccctggatg cccagccgct gctcaagtac ttccagccag tcacccagtg
     1861 gctgcaggag cagaaccagc agaacggcga ggtcctgggc tggcccgagt accagtggca
     1921 cccgccgttg cctgacaact acccggaggg catagacctg gtgactgatg aggctgaggc
     1981 cagcaagttt gtggaggaat atgaccggac atcccaggtg gtgtggaacg agtatgccga
     2041 ggccaactgg aactacaaca ccaacatcac cacagagacc agcaagattc tgctgcagaa
     2101 gaacatgcaa atagccaacc acaccctgaa gtacggcacc caggccagga agtttgatgt
     2161 gaaccagttg cagaacacca ctatcaagcg gatcataaag aaggttcagg acctagaacg
     2221 ggcagcactg cctgcccagg agctggagga gtacaacaag atcctgttgg atatggaaac
     2281 cacctacagc gtggccactg tgtgccaccc gaatggcagc tgcctgcagc tcgagccaga
     2341 tctgacgaat gtgatggcca cgtcccggaa atatgaagac ctgttatggg catgggaggg
     2401 ctggcgagac aaggcgggga gagccatcct ccagttttac ccgaaatacg tggaactcat
     2461 caaccaggct gcccggctca atggctatgt agatgcaggg gactcgtgga ggtctatgta
     2521 cgagacacca tccctggagc aagacctgga gcggctcttc caggagctgc agccactcta
     2581 cctcaacctg catgcctacg tgcgccgggc cctgcaccgt cactacgggg cccagcacat
     2641 caacctggag gggcccattc ctgctcacct gctggggaac atgtgggcgc agacctggtc
     2701 caacatctat gacttggtgg tgcccttccc ttcagccccc tcgatggaca ccacagaggc
     2761 tatgctaaag cagggctgga cgcccaggag gatgtttaag gaggctgatg atttcttcac
     2821 ctccctgggg ctgctgcccg tgcctcctga gttctggaac aagtcgatgc tggagaagcc
     2881 aaccgacggg cgggaggtgg tctgccacgc ctcggcctgg gacttctaca acggcaagga
     2941 cttccggatc aagcagtgca ccaccgtgaa cttggaggac ctggtggtgg cccaccacga
     3001 aatgggccac atccagtatt tcatgcagta caaagactta cctgtggcct tgagggaggg
     3061 tgccaacccc ggcttccatg aggccattgg ggacgtgcta gccctctcag tgtctacgcc
     3121 caagcacctg cacagtctca acctgctgag cagtgagggt ggcagcgacg agcatgacat
     3181 caactttctg atgaagatgg cccttgacaa gatcgccttt atccccttca gctacctcgt
     3241 cgatcagtgg cgctggaggg tatttgatgg aagcatcacc aaggagaact ataaccagga
     3301 gtggtggagc ctcaggctga agtaccaggg cctctgcccc ccagtgccca ggactcaagg
     3361 tgactttgac ccaggggcca agttccacat tccttctagc gtgccttaca tcaggtactt
     3421 tgtcagcttc atcatccagt tccagttcca cgaggcactg tgccaggcag ctggccacac
     3481 gggccccctg cacaagtgtg acatctacca gtccaaggag gccgggcagc gcctggcgac
     3541 cgccatgaag ctgggcttca gtaggccgtg gccggaagcc atgcagctga tcacgggcca
     3601 gcccaacatg agcgcctcgg ccatgttgag ctacttcaag ccgctgctgg actggctccg
     3661 cacggagaac gagctgcatg gggagaagct gggctggccg cagtacaact ggacgccgaa
     3721 ctccgctcgc tcagaagggc ccctcccaga cagcggccgc gtcagcttcc tgggcctgga
     3781 cctggatgcg cagcaggccc gcgtgggcca gtggctgctg ctcttcctgg gcatcgccct
     3841 gctggtagcc accctgggcc tcagccagcg gctcttcagc atccgccacc gcagcctcca
     3901 ccggcactcc cacgggcccc agttcggctc cgaggtggag ctgagacact cctgaggtga
     3961 cccggctggg tcggccctgc ccaagggcct cccaccagag actgggatgg gaacactggt
     4021 gggcagctga ggacacaccc cacaccccag cccaccctgc tcctcctgcc ctgtccctgt
     4081 ccccctcccc tcccagtcct ccagaccacc agccgcccca gccccttctc ccagcacacg
     4141 gctgcctgac actgagcccc acctctccaa gtctctctgt gaatacaatt aaaggtcctg
     4201 ccctccccat ctgagtctgt gtccctcaca gggaagccag ggacagggac aggctgcttt
     4261 cctgcctcct ggcagtcaag tgggtcccgt tactaggttt gttcctccat cctccttcag
     4321 gagccgggga ggatccccag agctctgccc cagcacctcc tggcgctggc gcctgtcttc
     4381 cctccagccc aggcagcccg ccactgtcct gccaccgcag gcagcccctg tctggcccaa
     4441 gcactgaccc acgcggactc tgggaagcag acatcctggg ctgctggcct cacatttcca
     4501 ctggcagtgg agcctttccc tgctccacaa atggccaggt ccccccaggg gaaggcttcc
     4561 ggctgttatc ggctgcctca gggggcgagt accttggagg gcctgcttca aggagggtgc
     4621 cccctggagg gcacacacca gcctagtgct taccttggct cctgcctgta ccagctccat
     4681 gactctgctc gggtgaacag ccttggctct cagacagcca ttctaacact gccagtgcag
     4741 aggggcctca gacgctggag tgtagcagtg gctgcacctg cacagggatt agctgccagc
     4801 agccaccctg ctggcgtccc agcacacacc tcctcactcc ctgcattgga gggagtgtca
     4861 ttttaaggga catttttatg acttttatgt gtatgtttat gtagaaattt ggaaaataca
     4921 gaaaactgta aagaaaataa aagcccttta tatcaacgtc aa
//
LOCUS       NM_000791               3919 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens dihydrofolate reductase (DHFR), transcript variant 1,
            mRNA.
ACCESSION   NM_000791
VERSION     NM_000791.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3919)
  AUTHORS   Saha S, Jungas TT, Ohayon D, Audouard C, Ye T, Fawal MA and Davy A.
  TITLE     Dihydrofolate reductase activity controls neurogenic transitions in
            the developing neocortex
  JOURNAL   Development 150 (20) (2023)
   PUBMED   37665322
  REMARK    GeneRIF: Dihydrofolate reductase activity controls neurogenic
            transitions in the developing neocortex.
REFERENCE   2  (bases 1 to 3919)
  AUTHORS   Li J, Lin J, Kohen A, Singh P, Francis K and Cheatum CM.
  TITLE     Evolution of Optimized Hydride Transfer Reaction and Overall Enzyme
            Turnover in Human Dihydrofolate Reductase
  JOURNAL   Biochemistry 60 (50), 3822-3828 (2021)
   PUBMED   34875176
  REMARK    GeneRIF: Evolution of Optimized Hydride Transfer Reaction and
            Overall Enzyme Turnover in Human Dihydrofolate Reductase.
REFERENCE   3  (bases 1 to 3919)
  AUTHORS   Karimi E, Heshmati E and Khalifeh K.
  TITLE     Evolutionary adaptation of DHFR via expression of enzyme isoforms
            with various binding properties and dynamics behavior: a
            bioinformatics and computational study
  JOURNAL   Biol Chem 403 (7), 643-652 (2021)
   PUBMED   34905670
  REMARK    GeneRIF: Evolutionary adaptation of DHFR via expression of enzyme
            isoforms with various binding properties and dynamics behavior: a
            bioinformatics and computational study. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3919)
  AUTHORS   Fawal MA, Jungas T and Davy A.
  TITLE     Inhibition of DHFR targets the self-renewing potential of brain
            tumor initiating cells
  JOURNAL   Cancer Lett 503, 129-137 (2021)
   PUBMED   33545223
  REMARK    GeneRIF: Inhibition of DHFR targets the self-renewing potential of
            brain tumor initiating cells.
REFERENCE   5  (bases 1 to 3919)
  AUTHORS   Li B, Li Y, Xu S, Chen H, Dai S, Peng X, Wang L, Liang Y, Li C, Tang
            B, Zhu L, Zhang T, Lv C, Wang C and Han L.
  TITLE     A comprehensive association analysis between homocysteine metabolic
            pathway gene methylation and ischemic stroke in a Chinese
            hypertensive population
  JOURNAL   J Clin Lab Anal 35 (3), e23689 (2021)
   PUBMED   33382484
  REMARK    GeneRIF: A comprehensive association analysis between homocysteine
            metabolic pathway gene methylation and ischemic stroke in a Chinese
            hypertensive population.
REFERENCE   6  (bases 1 to 3919)
  AUTHORS   Stockman BJ, Nirmala NR, Wagner G, Delcamp TJ, DeYarman MT and
            Freisheim JH.
  TITLE     Sequence-specific 1H and 15N resonance assignments for human
            dihydrofolate reductase in solution
  JOURNAL   Biochemistry 31 (1), 218-229 (1992)
   PUBMED   1731871
REFERENCE   7  (bases 1 to 3919)
  AUTHORS   Beltzer JP and Spiess M.
  TITLE     In vitro binding of the asialoglycoprotein receptor to the beta
            adaptin of plasma membrane coated vesicles
  JOURNAL   EMBO J 10 (12), 3735-3742 (1991)
   PUBMED   1935897
REFERENCE   8  (bases 1 to 3919)
  AUTHORS   Davies JF 2nd, Delcamp TJ, Prendergast NJ, Ashford VA, Freisheim JH
            and Kraut J.
  TITLE     Crystal structures of recombinant human dihydrofolate reductase
            complexed with folate and 5-deazafolate
  JOURNAL   Biochemistry 29 (40), 9467-9479 (1990)
   PUBMED   2248959
REFERENCE   9  (bases 1 to 3919)
  AUTHORS   Appleman JR, Beard WA, Delcamp TJ, Prendergast NJ, Freisheim JH and
            Blakley RL.
  TITLE     Unusual transient- and steady-state kinetic behavior is predicted by
            the kinetic scheme operational for recombinant human dihydrofolate
            reductase
  JOURNAL   J Biol Chem 265 (5), 2740-2748 (1990)
   PUBMED   2303423
REFERENCE   10  (bases 1 to 3919)
  AUTHORS   Will CL and Dolnick BJ.
  TITLE     5-Fluorouracil inhibits dihydrofolate reductase precursor mRNA
            processing and/or nuclear mRNA stability in methotrexate-resistant
            KB cells
  JOURNAL   J Biol Chem 264 (35), 21413-21421 (1989)
   PUBMED   2592384
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC000192.1, SRR1163658.305558.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145544
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000439211.7/ ENSP00000396308.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010270.8, CB988944.1,
            AC008434.5, BC003584.1 and AA489055.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000791.3.
            Summary: Dihydrofolate reductase converts dihydrofolate into
            tetrahydrofolate, a methyl group shuttle required for the de novo
            synthesis of purines, thymidylic acid, and certain amino acids.
            While the functional dihydrofolate reductase gene has been mapped
            to chromosome 5, multiple intronless processed pseudogenes or
            dihydrofolate reductase-like genes have been identified on separate
            chromosomes. Dihydrofolate reductase deficiency has been linked to
            megaloblastic anemia. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Mar 2014].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3919
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     gene            1..3919
                     /gene="DHFR"
                     /gene_synonym="DHFR1; DHFRP1; DYR"
                     /note="dihydrofolate reductase"
                     /db_xref="GeneID:1719"
                     /db_xref="HGNC:HGNC:2861"
                     /db_xref="MIM:126060"
     misc_feature    21..23
                     /gene="DHFR"
                     /gene_synonym="DHFR1; DHFRP1; DYR"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MCGGSWGGKAGAGGAGGAAAAAAAAAAAAPGSTWSAAPVEEEVDFRLPVDWKNRLKTA
                     CLAGAELEAARPPDAGFRRDMAGQGWQPGGRAWRGARARGRSSQASAGASTPRPCVRR
                     GGGAGPRLHKWGRGGRGGHNFAPNLTARSAVTSGLGGPPAAV"
     misc_feature    255..257
                     /gene="DHFR"
                     /gene_synonym="DHFR1; DHFRP1; DYR"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MAGQGWQPGGRAWRGARARGRSSQASAGASTPRPCVRRGGGAGPRLHKWGRGGRGGHN
                     FAPNLTARSAVTSGLGGPPAAV"
     CDS             495..1058
                     /gene="DHFR"
                     /gene_synonym="DHFR1; DHFRP1; DYR"
                     /EC_number="1.5.1.3"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="dihydrofolate reductase isoform 1"
                     /protein_id="NP_000782.1"
                     /db_xref="CCDS:CCDS47240.1"
                     /db_xref="GeneID:1719"
                     /db_xref="HGNC:HGNC:2861"
                     /db_xref="MIM:126060"
                     /translation="MVGSLNCIVAVSQNMGIGKNGDLPWPPLRNEFRYFQRMTTTSSVE
                     GKQNLVIMGKKTWFSIPEKNRPLKGRINLVLSRELKEPPQGAHFLSRSLDDALKLTEQP
                     ELANKVDMVWIVGGSSVYKEAMNHPGHLKLFVTRIMQDFESDTFFPEIDLEKYKLLPEY
                     PGVLSDVQEEKGIKYKFEVYEKND"
     polyA_site      1527
                     /gene="DHFR"
                     /gene_synonym="DHFR1; DHFRP1; DYR"
                     /note="major polyA site"
     regulatory      3532..3537
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DHFR"
                     /gene_synonym="DHFR1; DHFRP1; DYR"
                     /note="hexamer: AATGAA"
     polyA_site      3563
                     /gene="DHFR"
                     /gene_synonym="DHFR1; DHFRP1; DYR"
                     /note="major polyA site"
     regulatory      3893..3898
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DHFR"
                     /gene_synonym="DHFR1; DHFRP1; DYR"
                     /note="hexamer: AATAAA"
     polyA_site      3919
                     /gene="DHFR"
                     /gene_synonym="DHFR1; DHFRP1; DYR"
                     /note="major polyA site"
ORIGIN
        1 agtcccagac agaacctact atgtgcggcg gcagctgggg cgggaaggcg ggagctgggg
       61 gcgctggggg cgctgcggcc gctgcggccg ctgcagccgc tgcagcgcca gggtccacct
      121 ggtcggctgc acctgtggag gaggaggtgg atttcaggct tcccgtagac tggaagaatc
      181 ggctcaaaac cgcttgcctc gcaggggctg agctggaggc agcgaggccg cccgacgcag
      241 gcttccggcg agacatggca gggcaaggat ggcagcccgg cggcagggcc tggcgaggag
      301 cgcgagcccg cggccgcagt tcccaggcgt ctgcgggcgc gagcacgccg cgaccctgcg
      361 tgcgccgggg cgggggggcg gggcctcgcc tgcacaaatg gggacgaggg gggcggggcg
      421 gccacaattt cgcgccaaac ttgaccgcgc gttctgctgt aacgagcggg ctcggaggtc
      481 ctcccgctgc tgtcatggtt ggttcgctaa actgcatcgt cgctgtgtcc cagaacatgg
      541 gcatcggcaa gaacggggac ctgccctggc caccgctcag gaatgaattc agatatttcc
      601 agagaatgac cacaacctct tcagtagaag gtaaacagaa tctggtgatt atgggtaaga
      661 agacctggtt ctccattcct gagaagaatc gacctttaaa gggtagaatt aatttagttc
      721 tcagcagaga actcaaggaa cctccacaag gagctcattt tctttccaga agtctagatg
      781 atgccttaaa acttactgaa caaccagaat tagcaaataa agtagacatg gtctggatag
      841 ttggtggcag ttctgtttat aaggaagcca tgaatcaccc aggccatctt aaactatttg
      901 tgacaaggat catgcaagac tttgaaagtg acacgttttt tccagaaatt gatttggaga
      961 aatataaact tctgccagaa tacccaggtg ttctctctga tgtccaggag gagaaaggca
     1021 ttaagtacaa atttgaagta tatgagaaga atgattaata tgaaggtgtt ttctagttta
     1081 agttgttccc cctccctctg aaaaaagtat gtatttttac attagaaaag gttttttgtt
     1141 gactttagat ctataattat ttctaagcaa ctagttttta ttccccacta ctcttgtctc
     1201 tatcagatac catttatgag acattcttgc tataactaag tgcttctcca agaccccaac
     1261 tgagtcccca gcacctgcta cagtgagctg ccattccaca cccatcacat gtggcactct
     1321 tgccagtcct tgacattgtc gggcttttca catgttggta atatttatta aagatgaaga
     1381 tccacatacc cttcaactga gcagtttcac tagtggaaat accaaaagct tcctacgtgt
     1441 atatccagag gtttgtagat aaatgttgcc accttgtttg taacagtgaa aaattgaaaa
     1501 caacctggaa gtccagtgat gggaaaatga gtatgtttct gtcttagatt ggggaaccca
     1561 aagcagattg caagactgaa atttcagtga aagcagtgta tttgctaggt cataccagaa
     1621 atcatcaatt gaggtacgga gaaactgaac tgagaaggta agaaaagcaa tttaaagtca
     1681 gcgagcaggt tctcattgat aacaagctcc atactgctga gatacaggga aatggagggg
     1741 ggaaagctgg agtattgatc ccgcccccct ccttggttgt cagctccctg tcctgtgtgt
     1801 gggcggaaca tagtccagct gctctatagc aagtctcagg tgtttgcagt aagaagctgc
     1861 tggcatgcac gggaacagtg aatgccaaac acttaaagca attcgatgtt taagtatgta
     1921 agttcttttt tttttagaca gcgtttcgct cttgttgccc aggctagcat gcaatggtgt
     1981 gacctcggct tactgcaacc tccgccttcc cagattcaag cgattctcct gcctcaggct
     2041 cccaagtagc taggaccagg tgcgcgccac cacgcccggc taatttttgt attttgtatt
     2101 tttagtagag atggggtttc accatgttgg tcaggctagt ctcgaactcg tgaccgcaag
     2161 cgattcaccc acctcagcct cccaaagtgc tgggattacc ggcttgagcc accacacccg
     2221 gcacatcttc attcttttta tgtagtaaaa agtataaggc cacacatggt ttatttgaag
     2281 tattttataa tttaaaaaaa tacagaagca ggaaaaccaa ttataagttc aagtgaggga
     2341 tgatggttgc ttgaaccaaa gggttgcatg tagtaagaaa ttgtgattta agatatattt
     2401 taaagttata agtagcagga tattctgatg gagtttgact ttggttttgg gcccagggag
     2461 tttcagatgc ctttgagaaa tgaatgaagt agagagaaaa taaaagaaaa accagccagg
     2521 cacagtggct cacacctgta atcccagcgc tttgggaggc taaggcaggc agatcacttg
     2581 agaccagctt gggcaacatg gcaaagcccc atctctacaa aaaacacaaa aattagctgg
     2641 gcattgtggc gcacacctgt attcccatct agtcaggaag ctgagatgga agaattaatt
     2701 gagcccacga gttcaaggct gcagtgagtc gtgattgtgc cactgcactc cagccggggt
     2761 gacagaagag accttgtctc gaaaaggaat ctgaaaacaa tggaaccatg ccttcataat
     2821 tctagaaagt tattttcaac tgataaatct atattcaccc aaataatcaa gggtgaaggt
     2881 aaaataatac atttttagac aagcaaagac tcaggggtta cctccatgtg ccctttttag
     2941 ggaagctgtt ggagaaaata ctccagcaaa atgaaggagt acacaaacca gagaatgaca
     3001 tgaatccagc aaataggatc caacacaggc aatattccag ctatggagct agctttaaaa
     3061 aggaacagta aaaatattaa tcggttagct gggtggaatg gcccatgcct gtagtcccag
     3121 ctactcagga ggctcagcag caggacgact tgagcccaag agttccagac cagcctggcc
     3181 accttagtga gatcccttct cttaaaaata ataacttatt gccagatttg gggcatttgg
     3241 aaagaagttc attgaagata aagcaaaagt aaaaaaaaaa aaaaaaaaaa caaggggaaa
     3301 gggttggtta ggcaatcatt ctagggcaga aagaagtaca ggataggaag agcataatac
     3361 actgtttttc tcaacaagga gcagtatgta cacagtcata atgatgtgac tgcttagccc
     3421 ctaaatatgg taactactct gggacaatat gggaggaaaa gtgaagattg tgatggtgta
     3481 agagctaaat cctcatctgt catatccaga aatcactata taatatataa taatgaaatg
     3541 actaagttat gtgaggaaaa aaacagaaga cattgctaaa agagttaaaa gtcattgctc
     3601 tggagaatta ggagggatgg ggcaggggac tgttaggatg cattataaac tgaaaagcct
     3661 ttttaaaatt ttatgtatta atatatgcat tcacttgaaa aactaaaaaa aaacaataat
     3721 ttggaaaaac ccatgaaggt aactaacgga aggaaaaact aagagaatga aaagtatttg
     3781 cctctggaaa gaacaactgg caggactgtt gttttcattg taagactttt ggagccattt
     3841 aattgtactt aaccattttc atctatttct ttaataagaa caattccatc ttaataaaga
     3901 gttacacttg ttaataagt
//
LOCUS       NM_000792               1861 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens iodothyronine deiodinase 1 (DIO1), transcript variant
            1, mRNA.
ACCESSION   NM_000792
VERSION     NM_000792.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1861)
  AUTHORS   AlEjielat R, Khaleel A, Batarseh YS, Abu-Qatouseh L, Al-Wawi S and
            AlSunna T.
  TITLE     SNP rs11185644 in RXRA gene and SNP rs2235544 in DIO1 gene predict
            dosage requirements in a cross-sectional sample of hypothyroid
            patients
  JOURNAL   BMC Endocr Disord 23 (1), 167 (2023)
   PUBMED   37563580
  REMARK    GeneRIF: SNP rs11185644 in RXRA gene and SNP rs2235544 in DIO1 gene
            predict dosage requirements in a cross-sectional sample of
            hypothyroid patients. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1861)
  AUTHORS   Sarzo B, Abumallouh R, Marin N, Llop S, Beneito A, Lopez-Flores I,
            Ferrero N, Sakhi AK, Ballester F and Lopez-Espinosa MJ.
  TITLE     Association between phenols and thyroid hormones: The role of
            iodothyronine deiodinase genes
  JOURNAL   Environ Pollut 311, 119926 (2022)
   PUBMED   35964788
  REMARK    GeneRIF: Association between phenols and thyroid hormones: The role
            of iodothyronine deiodinase genes.
REFERENCE   3  (bases 1 to 1861)
  AUTHORS   Furman A, Hannoush Z, Echegoyen FB, Dumitrescu A, Refetoff S and
            Weiss RE.
  TITLE     Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel
            Compound Heterozygous TPO Gene Mutations Causing Congenital
            Hypothyroidism
  JOURNAL   Thyroid 31 (10), 1589-1591 (2021)
   PUBMED   34128397
  REMARK    GeneRIF: Novel DIO1 Gene Mutation Acting as Phenotype Modifier for
            Novel Compound Heterozygous TPO Gene Mutations Causing Congenital
            Hypothyroidism.
REFERENCE   4  (bases 1 to 1861)
  AUTHORS   Piekielko-Witkowska A, Kedzierska H, Poplawski P, Wojcicka A,
            Rybicka B, Maksymowicz M, Grajkowska W, Matyja E, Mandat T, Bonicki
            W and Nauman P.
  TITLE     Alternative splicing of iodothyronine deiodinases in pituitary
            adenomas. Regulation by oncoprotein SF2/ASF
  JOURNAL   Biochim Biophys Acta 1832 (6), 763-772 (2013)
   PUBMED   23462647
  REMARK    GeneRIF: a new mechanism of posttranscriptional regulation of DIO1
            and show deregulation of DIO1 expression in pituitary adenoma,
            possibly resulting from disturbed expression of SF2/ASF.
REFERENCE   5  (bases 1 to 1861)
  AUTHORS   Kryukov GV, Castellano S, Novoselov SV, Lobanov AV, Zehtab O, Guigo
            R and Gladyshev VN.
  TITLE     Characterization of mammalian selenoproteomes
  JOURNAL   Science 300 (5624), 1439-1443 (2003)
   PUBMED   12775843
REFERENCE   6  (bases 1 to 1861)
  AUTHORS   Jakobs TC, Schmutzler C, Meissner J and Kohrle J.
  TITLE     The promoter of the human type I 5'-deiodinase gene--mapping of the
            transcription start site and identification of a DR+4
            thyroid-hormone-responsive element
  JOURNAL   Eur J Biochem 247 (1), 288-297 (1997)
   PUBMED   9249039
REFERENCE   7  (bases 1 to 1861)
  AUTHORS   Toyoda N, Zavacki AM, Maia AL, Harney JW and Larsen PR.
  TITLE     A novel retinoid X receptor-independent thyroid hormone response
            element is present in the human type 1 deiodinase gene
  JOURNAL   Mol Cell Biol 15 (9), 5100-5112 (1995)
   PUBMED   7651427
REFERENCE   8  (bases 1 to 1861)
  AUTHORS   Toyoda N, Berry MJ, Harney JW and Larsen PR.
  TITLE     Topological analysis of the integral membrane protein, type 1
            iodothyronine deiodinase (D1)
  JOURNAL   J Biol Chem 270 (20), 12310-12318 (1995)
   PUBMED   7744884
REFERENCE   9  (bases 1 to 1861)
  AUTHORS   Visser TJ.
  TITLE     Role of sulfation in thyroid hormone metabolism
  JOURNAL   Chem Biol Interact 92 (1-3), 293-303 (1994)
   PUBMED   8033262
  REMARK    Review article
REFERENCE   10  (bases 1 to 1861)
  AUTHORS   Mandel SJ, Berry MJ, Kieffer JD, Harney JW, Warne RL and Larsen PR.
  TITLE     Cloning and in vitro expression of the human selenoprotein, type I
            iodothyronine deiodinase
  JOURNAL   J Clin Endocrinol Metab 75 (4), 1133-1139 (1992)
   PUBMED   1400883
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.99654.1,
            SRR5189664.83684.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000361921.8/ ENSP00000354643.4
            protein contains selenocysteine :: PMID: 1400883, 12775843
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290780.1, BC017955.1 and
            BE046205.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000792.6.
            Summary: The protein encoded by this gene belongs to the
            iodothyronine deiodinase family. It catalyzes the activation, as
            well as the inactivation of thyroid hormone by outer and inner ring
            deiodination, respectively. The activation reaction involves the
            conversion of the prohormone thyroxine
            (3,5,3',5'-tetraiodothyronine, T4), secreted by the thyroid gland,
            to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by
            5'-deiodination. This protein provides most of the circulating T3,
            which is essential for growth, differentiation and basal metabolism
            in vertebrates. This protein is a selenoprotein, containing the
            rare amino acid selenocysteine (Sec) at its active site. Sec is
            encoded by the UGA codon, which normally signals translation
            termination. The 3' UTRs of selenoprotein mRNAs contain a conserved
            stem-loop structure, designated the Sec insertion sequence (SECIS)
            element, that is necessary for the recognition of UGA as a Sec
            codon, rather than as a stop signal. Alternatively spliced
            transcript variants have been found for this gene. [provided by
            RefSeq, Jun 2018].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1861
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     gene            1..1861
                     /gene="DIO1"
                     /gene_synonym="5DI; THMA2; TXDI1"
                     /note="iodothyronine deiodinase 1"
                     /db_xref="GeneID:1733"
                     /db_xref="HGNC:HGNC:2883"
                     /db_xref="MIM:147892"
     CDS             25..774
                     /gene="DIO1"
                     /gene_synonym="5DI; THMA2; TXDI1"
                     /EC_number="1.21.99.4"
                     /note="UGA stop codon recoded as selenocysteine; isoform a
                     is encoded by transcript variant 1; thyroxine deiodinase
                     type I (selenoprotein); DIOI; type 1 DI; type-I
                     5'-deiodinase; iodothyronine deiodinase type 1; thyroxine
                     5'-deiodinase; deiodinase, iodothyronine type I;
                     selenoprotein DIO1"
                     /codon_start=1
                     /transl_except=(pos:400..402,aa:Sec)
                     /product="type I iodothyronine deiodinase isoform a"
                     /protein_id="NP_000783.2"
                     /db_xref="CCDS:CCDS41339.1"
                     /db_xref="GeneID:1733"
                     /db_xref="HGNC:HGNC:2883"
                     /db_xref="MIM:147892"
                     /translation="MGLPQPGLWLKRLWVLLEVAVHVVVGKVLLILFPDRVKRNILAMG
                     EKTGMTRNPHFSHDNWIPTFFSTQYFWFVLKVRWQRLEDTTELGGLAPNCPVVRLSGQR
                     CNIWEFMQGNRPLVLNFGSCTUPSFMFKFDQFKRLIEDFSSIADFLVIYIEEAHASDGW
                     AFKNNMDIRNHQNLQDRLQAAHLLLARSPQCPVVVDTMQNQSSQLYAALPERLYIIQEG
                     RILYKGKSGPWNYNPEEVRAVLEKLHS"
     misc_feature    61..123
                     /gene="DIO1"
                     /gene_synonym="5DI; THMA2; TXDI1"
                     /note="propagated from UniProtKB/Swiss-Prot (P49895.3);
                     transmembrane region"
     misc_feature    400..402
                     /gene="DIO1"
                     /gene_synonym="5DI; THMA2; TXDI1"
                     /note="Selenocysteine; other site"
     regulatory      1745..1815
                     /regulatory_class="recoding_stimulatory_region"
                     /gene="DIO1"
                     /gene_synonym="5DI; THMA2; TXDI1"
                     /note="SECIS_element"
                     /function="essential for recoding UGA to specify
                     selenocysteine"
     regulatory      1843..1848
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DIO1"
                     /gene_synonym="5DI; THMA2; TXDI1"
                     /note="hexamer: ATTAAA"
     polyA_site      1861
                     /gene="DIO1"
                     /gene_synonym="5DI; THMA2; TXDI1"
                     /note="major polyA site"
ORIGIN
        1 agagcttact ctggctttgc cgagatgggg ctgccccagc cagggctgtg gctgaagagg
       61 ctctgggtgc tcttggaggt ggctgtgcat gtggtcgtgg gtaaagtgct tctgatattg
      121 tttccagaca gagtcaagcg gaacatcctg gccatgggcg agaagacggg tatgaccagg
      181 aacccccatt tcagccacga caactggata ccaacctttt tcagcaccca gtatttctgg
      241 ttcgtcttga aggtccgttg gcagcgacta gaggacacga ctgagctagg gggtctggcc
      301 ccaaactgcc cggtggtccg cctctcagga cagaggtgca acatttggga gtttatgcaa
      361 ggtaataggc cactggtgct gaattttgga agttgtacct gaccttcatt tatgttcaaa
      421 tttgaccagt tcaagaggct tattgaagac tttagttcca tagcagattt tcttgtcatt
      481 tacattgaag aagcacatgc atcagatggc tgggctttta agaacaacat ggacatcaga
      541 aatcaccaga accttcagga tcgcctgcag gcagcccatc tactgctggc caggagcccc
      601 cagtgccctg tggtggtgga caccatgcag aaccagagca gccagctcta cgcagcactg
      661 cctgagaggc tctacataat ccaggagggc aggatcctct acaagggtaa atctggccct
      721 tggaactaca acccagagga agttcgtgct gttctggaaa agctccacag ttaatctgga
      781 cagatacctc aattctaggt gaccaacggg agggcttctc aaggcttagc tctccctgag
      841 acccagctgg cttttaccct tgacctgtgt ccctagctga atcactagct cagatttttc
      901 tgatctaagc aaacaactcc cagctgagga atgcaggcca cagcacccaa tcaagacaaa
      961 ttgttattat cagaaaatga agcaacactt gagctgttca ggccagttcc ctgttgaaga
     1021 aacagttccc tgttgaagaa agtagagcct gacactgctc ccactttgga gaccacattc
     1081 cctgcacacg gtctttgaga gagcagttgc actctacagg cacacttctg aggtacggta
     1141 tctctctcca gccactctga taccaagtaa ttcaagctgg cattccttct attagggaaa
     1201 ttcattttac ccaatttgca tttatggaat tgatcattta agacactaaa ttagttttta
     1261 gaaccaatta tgggaagaat tccagttgtt aggaagagat gaggagttgg aagaggaggg
     1321 attagaaaca ggaggaggca gtcatcctct ccttgccaaa agatttaaac ctgtccacat
     1381 tggtggtgat gatgggtgag tttccatggt aacacatccc taattttacc agggaagagg
     1441 agagtactca ctttaccatc tttgaatata tttcatagaa atctagctct ctgtaccctg
     1501 aaatcttcca ctagcctcac ttttcaacag agtcatctag aagggagggt tggcttccca
     1561 aaagcataac cttgaccaaa ccaaacaata ggcaccagca atgctgtcat tcagttatgc
     1621 agaagctcat ttgtgaaatt ctgtttctct gatttcttcg caagtctctt aatggtcatt
     1681 tgtgttagat tacatcaaac tgatggatag ccattggtat tcatctattt taactctgtg
     1741 tctttacata tttgtttatg atggccacag cctaaagtac acacggctgt gacttgattc
     1801 aaaagaaaat gttataagat gcagtaaact aataacagaa ttattaaaat atatcaggct
     1861 a
//
LOCUS       NM_000794               4031 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens dopamine receptor D1 (DRD1), mRNA.
ACCESSION   NM_000794
VERSION     NM_000794.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4031)
  AUTHORS   Gao AY, Diaz Espinosa AM, Nguyen BBN, Link PA, Meridew J, Jones DL,
            Gibbard DF, Tschumperlin DJ and Haak AJ.
  TITLE     Dopamine Receptor D1 Is Exempt from Transforming Growth Factor
            beta-Mediated Antifibrotic G Protein-Coupled Receptor Landscape
            Tampering in Lung Fibroblasts
  JOURNAL   J Pharmacol Exp Ther 386 (3), 277-287 (2023)
   PUBMED   37024146
  REMARK    GeneRIF: Dopamine Receptor D1 Is Exempt from Transforming Growth
            Factor beta-Mediated Antifibrotic G Protein-Coupled Receptor
            Landscape Tampering in Lung Fibroblasts.
REFERENCE   2  (bases 1 to 4031)
  AUTHORS   Zhao Y, Li Y, Li H and Shi S.
  TITLE     Dopamine D1 receptor activation ameliorates ox-LDL-induced
            endothelial cell senescence via CREB/Nrf2 pathway
  JOURNAL   Exp Cell Res 425 (2), 113542 (2023)
   PUBMED   36894051
  REMARK    GeneRIF: Dopamine D1 receptor activation ameliorates ox-LDL-induced
            endothelial cell senescence via CREB/Nrf2 pathway.
REFERENCE   3  (bases 1 to 4031)
  AUTHORS   Yogo A, Masui T, Takaishi S, Masuo K, Chen R, Kasai Y, Nagai K,
            Anazawa T, Watanabe S, Sakamoto S, Watanabe A, Inagaki R, Nakagawa
            MM, Ogawa S, Seno H, Uemoto S and Hatano E.
  TITLE     Inhibition of dopamine receptor D1 signaling promotes human bile
            duct cancer progression via WNT signaling
  JOURNAL   Cancer Sci 114 (4), 1324-1336 (2023)
   PUBMED   36441110
  REMARK    GeneRIF: Inhibition of dopamine receptor D1 signaling promotes human
            bile duct cancer progression via WNT signaling.
REFERENCE   4  (bases 1 to 4031)
  AUTHORS   Wieber K, Fleige L, Tsiami S, Reinders J, Braun J, Baraliakos X and
            Capellino S.
  TITLE     Dopamine receptor 1 expressing B cells exert a proinflammatory role
            in female patients with rheumatoid arthritis
  JOURNAL   Sci Rep 12 (1), 5985 (2022)
   PUBMED   35396380
  REMARK    GeneRIF: Dopamine receptor 1 expressing B cells exert a
            proinflammatory role in female patients with rheumatoid arthritis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4031)
  AUTHORS   Yan Q, Wu X, Zhou P, Zhou Y, Li X, Liu Z, Tan H, Yao W, Xia Y and
            Zhu F.
  TITLE     HERV-W Envelope Triggers Abnormal Dopaminergic Neuron Process
            through DRD2/PP2A/AKT1/GSK3 for Schizophrenia Risk
  JOURNAL   Viruses 14 (1), 145 (2022)
   PUBMED   35062349
  REMARK    GeneRIF: HERV-W Envelope Triggers Abnormal Dopaminergic Neuron
            Process through DRD2/PP2A/AKT1/GSK3 for Schizophrenia Risk.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4031)
  AUTHORS   Liu YF, Civelli O, Zhou QY and Albert PR.
  TITLE     Cholera toxin-sensitive 3',5'-cyclic adenosine monophosphate and
            calcium signals of the human dopamine-D1 receptor: selective
            potentiation by protein kinase A
  JOURNAL   Mol Endocrinol 6 (11), 1815-1824 (1992)
   PUBMED   1282671
REFERENCE   7  (bases 1 to 4031)
  AUTHORS   Minowa MT, Minowa T, Monsma FJ Jr, Sibley DR and Mouradian MM.
  TITLE     Characterization of the 5' flanking region of the human D1A dopamine
            receptor gene
  JOURNAL   Proc Natl Acad Sci U S A 89 (7), 3045-3049 (1992)
   PUBMED   1557411
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1992 May 1;89(9):4220]
REFERENCE   8  (bases 1 to 4031)
  AUTHORS   Tiberi M, Jarvie KR, Silvia C, Falardeau P, Gingrich JA, Godinot N,
            Bertrand L, Yang-Feng TL, Fremeau RT Jr and Caron MG.
  TITLE     Cloning, molecular characterization, and chromosomal assignment of a
            gene encoding a second D1 dopamine receptor subtype: differential
            expression pattern in rat brain compared with the D1A receptor
  JOURNAL   Proc Natl Acad Sci U S A 88 (17), 7491-7495 (1991)
   PUBMED   1831904
REFERENCE   9  (bases 1 to 4031)
  AUTHORS   Grandy DK, Zhou QY, Allen L, Litt R, Magenis RE, Civelli O and Litt
            M.
  TITLE     A human D1 dopamine receptor gene is located on chromosome 5 at
            q35.1 and identifies an EcoRI RFLP
  JOURNAL   Am J Hum Genet 47 (5), 828-834 (1990)
   PUBMED   1977312
REFERENCE   10  (bases 1 to 4031)
  AUTHORS   Sunahara RK, Niznik HB, Weiner DM, Stormann TM, Brann MR, Kennedy
            JL, Gelernter JE, Rozmahel R, Yang YL, Israel Y et al.
  TITLE     Human dopamine D1 receptor encoded by an intronless gene on
            chromosome 5
  JOURNAL   Nature 347 (6288), 80-83 (1990)
   PUBMED   1975640
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DA249160.1, SRR1803611.17628.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142363,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000393752.3/ ENSP00000377353.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091393.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000794.4.
            Summary: This gene encodes the D1 subtype of the dopamine receptor.
            The D1 subtype is the most abundant dopamine receptor in the
            central nervous system. This G-protein coupled receptor stimulates
            adenylyl cyclase and activates cyclic AMP-dependent protein
            kinases. D1 receptors regulate neuronal growth and development,
            mediate some behavioral responses, and modulate dopamine receptor
            D2-mediated events. Alternate transcription initiation sites result
            in two transcript variants of this gene. [provided by RefSeq, Jul
            2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4031
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.2"
     gene            1..4031
                     /gene="DRD1"
                     /gene_synonym="D1R; DADR; DRD1A"
                     /note="dopamine receptor D1"
                     /db_xref="GeneID:1812"
                     /db_xref="HGNC:HGNC:3020"
                     /db_xref="MIM:126449"
     misc_feature    827..829
                     /gene="DRD1"
                     /gene_synonym="D1R; DADR; DRD1A"
                     /note="upstream in-frame stop codon"
     CDS             968..2308
                     /gene="DRD1"
                     /gene_synonym="D1R; DADR; DRD1A"
                     /note="dopamine D1 receptor"
                     /codon_start=1
                     /product="D(1A) dopamine receptor"
                     /protein_id="NP_000785.1"
                     /db_xref="CCDS:CCDS4393.1"
                     /db_xref="GeneID:1812"
                     /db_xref="HGNC:HGNC:3020"
                     /db_xref="MIM:126449"
                     /translation="MRTLNTSAMDGTGLVVERDFSVRILTACFLSLLILSTLLGNTLVC
                     AAVIRFRHLRSKVTNFFVISLAVSDLLVAVLVMPWKAVAEIAGFWPFGSFCNIWVAFDI
                     MCSTASILNLCVISVDRYWAISSPFRYERKMTPKAAFILISVAWTLSVLISFIPVQLSW
                     HKAKPTSPSDGNATSLAETIDNCDSSLSRTYAISSSVISFYIPVAIMIVTYTRIYRIAQ
                     KQIRRIAALERAAVHAKNCQTTTGNGKPVECSQPESSFKMSFKRETKVLKTLSVIMGVF
                     VCCWLPFFILNCILPFCGSGETQPFCIDSNTFDVFVWFGWANSSLNPIIYAFNADFRKA
                     FSTLLGCYRLCPATNNAIETVSINNNGAAMFSSHHEPRGSISKECNLVYLIPHAVGSSE
                     DLKKEEAAGIARPLEKLSPALSVILDYDTDVSLEKIQPITQNGQHPT"
     misc_feature    980..982
                     /gene="DRD1"
                     /gene_synonym="D1R; DADR; DRD1A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P21728.1); glycosylation site"
     misc_feature    1037..1114
                     /gene="DRD1"
                     /gene_synonym="D1R; DADR; DRD1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P21728.1);
                     transmembrane region"
     misc_feature    1148..1228
                     /gene="DRD1"
                     /gene_synonym="D1R; DADR; DRD1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P21728.1);
                     transmembrane region"
     misc_feature    1256..1324
                     /gene="DRD1"
                     /gene_synonym="D1R; DADR; DRD1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P21728.1);
                     transmembrane region"
     misc_feature    1382..1456
                     /gene="DRD1"
                     /gene_synonym="D1R; DADR; DRD1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P21728.1);
                     transmembrane region"
     misc_feature    1544..1621
                     /gene="DRD1"
                     /gene_synonym="D1R; DADR; DRD1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P21728.1);
                     transmembrane region"
     misc_feature    1784..1864
                     /gene="DRD1"
                     /gene_synonym="D1R; DADR; DRD1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P21728.1);
                     transmembrane region"
     misc_feature    1904..1978
                     /gene="DRD1"
                     /gene_synonym="D1R; DADR; DRD1A"
                     /note="propagated from UniProtKB/Swiss-Prot (P21728.1);
                     transmembrane region"
     regulatory      4007..4012
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DRD1"
                     /gene_synonym="D1R; DADR; DRD1A"
                     /note="hexamer: AATAAA"
     polyA_site      4031
                     /gene="DRD1"
                     /gene_synonym="D1R; DADR; DRD1A"
                     /note="major polyA site"
ORIGIN
        1 gtgcgcttgc tggtgccagc tcggctcgct gcctcgcatt gccacaggct cctgagaggt
       61 cgcgggcagt gcctgcgggg aggcgcgggg ccctgctctg tagggctgaa ggccgcccga
      121 ggttcgccaa ggctctgggc tctcgaaagg aagccaagaa aagaagctgc ccaggtgacc
      181 agtcctggga gtgctctctc ccaaggaagc tccgagcgcc caggagccct tagccggggt
      241 ctagtgccct ttgaacaatc tccagctctt caaggaagtg ggctgccgcc gcctctcttg
      301 ggacctggcc tgggatcctt tccccaaacg caccccggcg atttttgcgc accgggagcc
      361 gaacccctgc tgcgcgcagc tggctgggct caggcgcgct tcctcaacgt ttcggagccg
      421 ctgcccccag cgaagtccac attccaagct ccaggggctt tgagagagac gaccccaagg
      481 caaggcgttt ggagagctgc tgaggagcca ggggcttgga ggagcgagaa gacatgtatt
      541 ttcagctgag tctcagaagg ggagaatctc ctgtcaccac cagaaaagca acagccccga
      601 aatgtgattg caactgacta gcagagcaga ggcccaggag tcactggatt gatgatttag
      661 aatatgctaa aaagccagtg ctttatttgg ggaattcagg ggctttctgg tgcccaagac
      721 agtgacctgc agcaagggag tcagaagaca gatgtagaaa tcaagagtga ccatccacgg
      781 gattgacttg gattgccact caagcggtcc tctcatggaa tgttggtgag gccctctgcc
      841 agggaagcaa tctggctgtg caaagtgctg cctggtgggg aggactcctg gaaatctgac
      901 tgacccctat tccctgcttg ggaacttgag gggtgtcaga gcccctgatg tgctttctct
      961 taggaagatg aggactctga acacctctgc catggacggg actgggctgg tggtggagag
     1021 ggacttctct gttcgtatcc tcactgcctg tttcctgtcg ctgctcatcc tgtccacgct
     1081 cctggggaac acgctggtct gtgctgccgt tatcaggttc cgacacctgc ggtccaaggt
     1141 gaccaacttc tttgtcatct ccttggctgt gtcagatctc ttggtggccg tcctggtcat
     1201 gccctggaag gcagtggctg agattgctgg cttctggccc tttgggtcct tctgtaacat
     1261 ctgggtggcc tttgacatca tgtgctccac tgcatccatc ctcaacctct gtgtgatcag
     1321 cgtggacagg tattgggcta tctccagccc tttccggtat gagagaaaga tgacccccaa
     1381 ggcagccttc atcctgatca gtgtggcatg gaccttgtct gtactcatct ccttcatccc
     1441 agtgcagctc agctggcaca aggcaaaacc cacaagcccc tctgatggaa atgccacttc
     1501 cctggctgag accatagaca actgtgactc cagcctcagc aggacatatg ccatctcatc
     1561 ctctgtaata agcttttaca tccctgtggc catcatgatt gtcacctaca ccaggatcta
     1621 caggattgct cagaaacaaa tacggcgcat tgcggccttg gagagggcag cagtccacgc
     1681 caagaattgc cagaccacca caggtaatgg aaagcctgtc gaatgttctc aaccggaaag
     1741 ttcttttaag atgtccttca aaagagaaac taaagtcctg aagactctgt cggtgatcat
     1801 gggtgtgttt gtgtgctgtt ggctaccttt cttcatcttg aactgcattt tgcccttctg
     1861 tgggtctggg gagacgcagc ccttctgcat tgattccaac acctttgacg tgtttgtgtg
     1921 gtttgggtgg gctaattcat ccttgaaccc catcatttat gcctttaatg ctgattttcg
     1981 gaaggcattt tcaaccctct taggatgcta cagactttgc cctgcgacga ataatgccat
     2041 agagacggtg agtatcaata acaatggggc cgcgatgttt tccagccatc atgagccacg
     2101 aggctccatc tccaaggagt gcaatctggt ttacctgatc ccacatgctg tgggctcctc
     2161 tgaggacctg aaaaaggagg aggcagctgg catcgccaga cccttggaga agctgtcccc
     2221 agccctatca gtcatattgg actatgacac tgacgtctct ctggagaaga tccaacccat
     2281 cacacaaaac ggtcagcacc caacctgaac tcgcagatga atcctgccac acatgctcat
     2341 cccaaaagct agaggagatt gctctggggc ttgctattaa gaaactaagg tacggtgaga
     2401 ctctgaggtg tcaggagagc cctctgctgc tttccaacac acaattaact ccgtttccaa
     2461 atacattcca gtgtattttc tgtgttgttc atagtcaatc aaacagggac actacaaaca
     2521 tggggagcca taagggacat gtctttggct tcagaattgt ttttagaaat ttattcttat
     2581 cttaggattt accaaatagg gcaaagaatc aacagtgaac agcttcactt aaaatcaaat
     2641 ttttctggga agaaaatgag atgggttgag tttgctgtat acaaacaggt gctaacactg
     2701 ttcccagcaa agttttcaga ttgtaaaggt aggtgcatgc cttcataaat tatttctaaa
     2761 acattaattg aggcttacag taggagtgag aaattttttt ccagaattga gagatgtttt
     2821 gttgatattg gttctattta tttattgtat atatggatat ttttaattta tgatataata
     2881 aatatatatt tatcatattt aataggataa attaatgagt tttatccaag accttacaac
     2941 cacatttctg gccatttaac tagcacttta taagccaatg aagcaaacac acagactctg
     3001 tgagattcta aatgttcatg tgtaacttct agaaacacag cagaaactga tagataaggg
     3061 aataaagttg aaatgattcc ttaaaattca tggacacaga taaatgcaag gtgagaattg
     3121 acaaatgcta taaatgcttt ctttttctga aaagattttg aaaaatttaa aaaagtatag
     3181 ctactactgt gttcaaaacg ttttaaatga caaatgactt tcccagggga atttgcagtt
     3241 ctgtaaatat cttaaataaa agccaactta agaagagccc agcattaaat ttacgatctt
     3301 aggtggtaat gaaaagtata tgctgctttg tatttatgta aaataattgg ccctctccat
     3361 cttttctcat ttcatgtgtc aggtagtttt tctgaaccac acaaatggct ttcctggaga
     3421 gagatctgta gcacagacag tgggttacag cagccccact gagggaccaa actcaaaccc
     3481 tgcatttcca tcttaccagg tcaaaccaaa ccagtcagtg gggctacttt ttatagtgct
     3541 ttaatctgaa tttagagctg atttttaaag gagtctttaa atgttaatgg tatactaact
     3601 aacgaatagt gcctcattat cattcttgag tcagatactt ctgttgatgg gagaaacaga
     3661 agaatccttc cctttgggtg tgttgagctc ccccaaagcc atcagcatct cttttgacaa
     3721 atgctagtcc tttctctgtg ctttggaatc aggttcctgc atcatcaccc ggactgtaaa
     3781 aagtatcata agcctccctt gccagatgcc aactcgtggg gcatttcaac agagtttctt
     3841 tgaaatgttt acaacgtatt cttcttgata agcaatgaac ttaacattta gatgcaatcc
     3901 gtgaaaagaa aaaaaaatct gaaaaatatc tcctgcatca ggtctgtgtt atttatgtat
     3961 tgtgaatgtt ttcttaattt tattggctgt atgctttctt acacataata aaaatatttt
     4021 gtgaactcaa a
//
LOCUS       NM_000795               2808 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1,
            mRNA.
ACCESSION   NM_000795
VERSION     NM_000795.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2808)
  AUTHORS   Amin M, Horst N and Gragnoli C.
  TITLE     Linkage and association of variants in the dopamine receptor 2 gene
            (DRD2) with polycystic ovary syndrome
  JOURNAL   J Ovarian Res 16 (1), 158 (2023)
   PUBMED   37563671
  REMARK    GeneRIF: Linkage and association of variants in the dopamine
            receptor 2 gene (DRD2) with polycystic ovary syndrome. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 2808)
  AUTHORS   Chen J, Xiao WC, Shan R, Song JY and Liu Z.
  TITLE     [Influence of rs2587552 polymorphism of DRD2 gene on the effect of a
            childhood obesity intervention: A prospective, parallel-group
            controlled trial]
  JOURNAL   Beijing Da Xue Xue Bao Yi Xue Ban 55 (3), 436-441 (2023)
   PUBMED   37291918
  REMARK    GeneRIF: [Influence of rs2587552 polymorphism of DRD2 gene on the
            effect of a childhood obesity intervention: A prospective,
            parallel-group controlled trial].
REFERENCE   3  (bases 1 to 2808)
  AUTHORS   Jeon HM, Oh YT, Shin YJ, Chang N, Kim D, Woo D, Yeup Y, Joo KM, Jo
            H, Yang H, Lee JK, Kang W, Sa J, Lee WJ, Hale J, Lathia JD, Purow B,
            Park MJ, Park JB, Nam DH and Lee J.
  TITLE     Dopamine receptor D2 regulates glioblastoma survival and death
            through MET and death receptor 4/5
  JOURNAL   Neoplasia 39, 100894 (2023)
   PUBMED   36972629
  REMARK    GeneRIF: Dopamine receptor D2 regulates glioblastoma survival and
            death through MET and death receptor 4/5.
REFERENCE   4  (bases 1 to 2808)
  AUTHORS   Mattioni J, Vansteene C, Poupon D, Gorwood P and Ramoz N.
  TITLE     Associated and intermediate factors between genetic variants of the
            dopaminergic D2 receptor gene and harmful alcohol use in young
            adults
  JOURNAL   Addict Biol 28 (3), e13269 (2023)
   PUBMED   36825486
  REMARK    GeneRIF: Associated and intermediate factors between genetic
            variants of the dopaminergic D2 receptor gene and harmful alcohol
            use in young adults.
REFERENCE   5  (bases 1 to 2808)
  AUTHORS   Xu Q, Xu H and Li S.
  TITLE     Alpha-2-Macroglobulin (A2M) and Dopamine Receptor D2 (DRD2)
            expression analysis and Influence of Separation from Parents in
            Childhood on the Suicide and Self-injury Behavior and Psychological
            Adjustment in Adolescence
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 69 (1), 67-74 (2023)
   PUBMED   37213155
  REMARK    GeneRIF: Alpha-2-Macroglobulin (A2M) and Dopamine Receptor D2 (DRD2)
            expression analysis and Influence of Separation from Parents in
            Childhood on the Suicide and Self-injury Behavior and Psychological
            Adjustment in Adolescence. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2808)
  AUTHORS   Raymond,D., Saunders-Pullman,R. and Ozelius,L.
  TITLE     SGCE Myoclonus-Dystonia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301587
REFERENCE   7  (bases 1 to 2808)
  AUTHORS   Eubanks JH, Djabali M, Selleri L, Grandy DK, Civelli O, McElligott
            DL and Evans GA.
  TITLE     Structure and linkage of the D2 dopamine receptor and neural cell
            adhesion molecule genes on human chromosome 11q23
  JOURNAL   Genomics 14 (4), 1010-1018 (1992)
   PUBMED   1478642
REFERENCE   8  (bases 1 to 2808)
  AUTHORS   Liu YF, Civelli O, Grandy DK and Albert PR.
  TITLE     Differential sensitivity of the short and long human dopamine D2
            receptor subtypes to protein kinase C
  JOURNAL   J Neurochem 59 (6), 2311-2317 (1992)
   PUBMED   1331329
REFERENCE   9  (bases 1 to 2808)
  AUTHORS   Araki K, Kuwano R, Morii K, Hayashi S, Minoshima S, Shimizu N,
            Katagiri T, Usui H, Kumanishi T and Takahashi Y.
  TITLE     Structure and expression of human and rat D2 dopamine receptor genes
  JOURNAL   Neurochem Int 21 (1), 91-98 (1992)
   PUBMED   1363862
  REMARK    Erratum:[Neurochem Int 1992 Oct;21(3):465]
REFERENCE   10  (bases 1 to 2808)
  AUTHORS   Dearry A, Falardeau P, Shores C and Caron MG.
  TITLE     D2 dopamine receptors in the human retina: cloning of cDNA and
            localization of mRNA
  JOURNAL   Cell Mol Neurobiol 11 (5), 437-453 (1991)
   PUBMED   1835903
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.202143.1, X51362.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145544,
            SAMEA2146411 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000362072.8/ ENSP00000354859.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP002840.3, DA693976.1,
            BF437994.1, X51362.1 and BC021195.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000795.3.
            Summary: This gene encodes the D2 subtype of the dopamine receptor.
            This G-protein coupled receptor inhibits adenylyl cyclase activity.
            A missense mutation in this gene causes myoclonus dystonia; other
            mutations have been associated with schizophrenia. Alternative
            splicing of this gene results in two transcript variants encoding
            different isoforms. A third variant has been described, but it has
            not been determined whether this form is normal or due to aberrant
            splicing. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (long).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2808
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.2"
     gene            1..2808
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="dopamine receptor D2"
                     /db_xref="GeneID:1813"
                     /db_xref="HGNC:HGNC:3023"
                     /db_xref="MIM:126450"
     misc_feature    319..321
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="upstream in-frame stop codon"
     CDS             355..1686
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="isoform long is encoded by transcript variant 1;
                     d(2) dopamine receptor; seven transmembrane helix receptor;
                     dopamine D2 receptor"
                     /codon_start=1
                     /product="D(2) dopamine receptor isoform long"
                     /protein_id="NP_000786.1"
                     /db_xref="CCDS:CCDS8361.1"
                     /db_xref="GeneID:1813"
                     /db_xref="HGNC:HGNC:3023"
                     /db_xref="MIM:126450"
                     /translation="MDPLNLSWYDDDLERQNWSRPFNGSDGKADRPHYNYYATLLTLLI
                     AVIVFGNVLVCMAVSREKALQTTTNYLIVSLAVADLLVATLVMPWVVYLEVVGEWKFSR
                     IHCDIFVTLDVMMCTASILNLCAISIDRYTAVAMPMLYNTRYSSKRRVTVMISIVWVLS
                     FTISCPLLFGLNNADQNECIIANPAFVVYSSIVSFYVPFIVTLLVYIKIYIVLRRRRKR
                     VNTKRSSRAFRAHLRAPLKGNCTHPEDMKLCTVIMKSNGSFPVNRRRVEAARRAQELEM
                     EMLSSTSPPERTRYSPIPPSHHQLTLPDPSHHGLHSTPDSPAKPEKNGHAKDHPKIAKI
                     FEIQTMPNGKTRTSLKTMSRRKLSQQKEKKATQMLAIVLGVFIICWLPFFITHILNIHC
                     DCNIPPVLYSAFTWLGYVNSAVNPIIYTTFNIEFRKAFLKILHC"
     misc_feature    367..369
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14416.2); glycosylation site"
     misc_feature    403..405
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14416.2); glycosylation site"
     misc_feature    421..423
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14416.2); glycosylation site"
     misc_feature    466..534
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P14416.2);
                     transmembrane region"
     misc_feature    565..633
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P14416.2);
                     transmembrane region"
     misc_feature    679..744
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P14416.2);
                     transmembrane region"
     misc_feature    808..870
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P14416.2);
                     transmembrane region"
     misc_feature    919..993
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P14416.2);
                     transmembrane region"
     misc_feature    934..936
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="Important for receptor activation.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P14416.2); other site"
     misc_feature    943..945
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="Important for receptor activation.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P14416.2); other site"
     misc_feature    985..1473
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P14416.2);
                     Region: Interaction with PPP1R9B. /evidence=ECO:0000250"
     misc_feature    1195..1350
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P14416.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1474..1539
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P14416.2);
                     transmembrane region"
     misc_feature    1582..1647
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P14416.2);
                     transmembrane region"
     regulatory      2779..2784
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="hexamer: AATAAA"
     polyA_site      2808
                     /gene="DRD2"
                     /gene_synonym="D2DR; D2R"
                     /note="major polyA site"
ORIGIN
        1 agtgccgaac cggcagcctc acgcgcgcac cgcgccgcct ccgccccgtc cccgcgctcc
       61 ctcctgcccg cccgccccgc gcccggcccc gccccgcccc gccccgccgc ggcccgtcca
      121 ctgctccccg cgggccagag ccggccgagc tgctgcccgc cggggctctg aacggcgcgg
      181 cggggccggg agccagggac cggccgagga gagtggcggc cccggacggc tgccggaggg
      241 gcggccgcgc gtggatgcgg cgggagctgg aagcctcaag cagccggcgc cgtctctgcc
      301 cccgggcgcc ctatggcttg aagagcctgg ccacccagtg gctccaccgc cctgatggat
      361 ccactgaatc tgtcctggta tgatgatgat ctggagaggc agaactggag ccggcccttc
      421 aacgggtcag acgggaaggc ggacagaccc cactacaact actatgccac actgctcacc
      481 ctgctcatcg ctgtcatcgt cttcggcaac gtgctggtgt gcatggctgt gtcccgcgag
      541 aaggcgctgc agaccaccac caactacctg atcgtcagcc tcgcagtggc cgacctcctc
      601 gtcgccacac tggtcatgcc ctgggttgtc tacctggagg tggtaggtga gtggaaattc
      661 agcaggattc actgtgacat cttcgtcact ctggacgtca tgatgtgcac ggcgagcatc
      721 ctgaacttgt gtgccatcag catcgacagg tacacagctg tggccatgcc catgctgtac
      781 aatacgcgct acagctccaa gcgccgggtc accgtcatga tctccatcgt ctgggtcctg
      841 tccttcacca tctcctgccc actcctcttc ggactcaata acgcagacca gaacgagtgc
      901 atcattgcca acccggcctt cgtggtctac tcctccatcg tctccttcta cgtgcccttc
      961 attgtcaccc tgctggtcta catcaagatc tacattgtcc tccgcagacg ccgcaagcga
     1021 gtcaacacca aacgcagcag ccgagctttc agggcccacc tgagggctcc actaaagggc
     1081 aactgtactc accccgagga catgaaactc tgcaccgtta tcatgaagtc taatgggagt
     1141 ttcccagtga acaggcggag agtggaggct gcccggcgag cccaggagct ggagatggag
     1201 atgctctcca gcaccagccc acccgagagg acccggtaca gccccatccc acccagccac
     1261 caccagctga ctctccccga cccgtcccac catggtctcc acagcactcc cgacagcccc
     1321 gccaaaccag agaagaatgg gcatgccaaa gaccacccca agattgccaa gatctttgag
     1381 atccagacca tgcccaatgg caaaacccgg acctccctca agaccatgag ccgtaggaag
     1441 ctctcccagc agaaggagaa gaaagccact cagatgctcg ccattgttct cggcgtgttc
     1501 atcatctgct ggctgccctt cttcatcaca cacatcctga acatacactg tgactgcaac
     1561 atcccgcctg tcctgtacag cgccttcacg tggctgggct atgtcaacag cgccgtgaac
     1621 cccatcatct acaccacctt caacattgag ttccgcaagg ccttcctgaa gatcctccac
     1681 tgctgactct gctgcctgcc cgcacagcag cctgcttccc acctccctgc ccaggccggc
     1741 cagcctcacc cttgcgaacc gtgagcagga aggcctgggt ggatcggcct cctcttcacc
     1801 ccggcaggcc ctgcagtgtt cgcttggctc catgctcctc actgcccgca caccctcact
     1861 ctgccagggc agtgctagtg agctgggcat ggtaccagcc ctggggctgg gccccccagc
     1921 tcaggggcag ctcatagagt cccccctccc acctccagtc cccctatcct tggcaccaaa
     1981 gatgcagccg ccttccttga ccttcctctg gggctctagg gttgctggag cctgagtcag
     2041 ggcccagagg ctgagttttc tctttgtggg gcttggcgtg gagcaggcgg tggggagaga
     2101 tggacagttc acaccctgca aggcccacag gaggcaagca agctctcttg ccgaggagcc
     2161 aggcaacttc agtcctggga gacccatgta aataccagac tgcaggttgg accccagaga
     2221 ttcccaagcc aaaaacctta gctccctccc gcaccccgat gtggacctct actttccagg
     2281 ctagtccgga cccacctcac cccgttacag ctccccaagt ggtttccaca tgctctgaga
     2341 agaggagccc tcatcttgaa gggcccagga gggtctatgg ggagaggaac tccttggcct
     2401 agcccaccct gctgccttct gacggccctg caatgtatcc cttctcacag cacatgctgg
     2461 ccagcctggg gcctggcagg gaggtcaggc cctggaactc tatctgggcc tgggctaggg
     2521 gacatcagag gttctttgag ggactgcctc tgccacactc tgacgcaaaa ccactttcct
     2581 tttctattcc ttctggcctt tcctctctcc tgtttccctt cccttccact gcctctgcct
     2641 tagaggagcc cacggctaag aggctgctga aaaccatctg gcctggcctg gccctgccct
     2701 gaggaaggag gggaagctgc agcttgggag agcccctggg gcctagactc tgtaacatca
     2761 ctatccatgc accaaactaa taaaactttg acgagtcacc ttccagga
//
LOCUS       NM_000796               2770 bp    mRNA    linear   PRI 17-MAR-2023
DEFINITION  Homo sapiens dopamine receptor D3 (DRD3), transcript variant a,
            mRNA.
ACCESSION   NM_000796
VERSION     NM_000796.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2770)
  AUTHORS   Kang Y, Zhang Y, Huang K and Wang Z.
  TITLE     The genetic influence of the DRD3 rs6280 polymorphism (Ser9Gly) on
            functional connectivity and gray matter volume of the hippocampus in
            patients with first-episode, drug-naive schizophrenia
  JOURNAL   Behav Brain Res 437, 114124 (2023)
   PUBMED   36154848
  REMARK    GeneRIF: The genetic influence of the DRD3 rs6280 polymorphism
            (Ser9Gly) on functional connectivity and gray matter volume of the
            hippocampus in patients with first-episode, drug-naive
            schizophrenia.
REFERENCE   2  (bases 1 to 2770)
  AUTHORS   Yan Y, Chen Y, Pan J, Xing W, Li Q, Wang Y, Gei L, Yuan Y, Xie J,
            Zeng W and Chen D.
  TITLE     Dopamine receptor D3 is related to prognosis in human hepatocellular
            carcinoma and inhibits tumor growth
  JOURNAL   BMC Cancer 22 (1), 1248 (2022)
   PUBMED   36456906
  REMARK    GeneRIF: Dopamine receptor D3 is related to prognosis in human
            hepatocellular carcinoma and inhibits tumor growth. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 2770)
  AUTHORS   Powell-Roach KL, Yao Y, Wallace MR, Chamala S, Cruz-Almeida Y, Jhun
            E, Molokie RE, Wang ZJ and Wilkie DJ.
  TITLE     HUMAN STUDY COMT and DRD3 haplotype-associated pain intensity and
            acute care utilization in adult sickle cell disease
  JOURNAL   Exp Biol Med (Maywood) 247 (17), 1601-1608 (2022)
   PUBMED   35285297
  REMARK    GeneRIF: HUMAN STUDY COMT and DRD3 haplotype-associated pain
            intensity and acute care utilization in adult sickle cell disease.
REFERENCE   4  (bases 1 to 2770)
  AUTHORS   Liu C, Xu X, Liu X, Zhang T, Li Y and Yan P.
  TITLE     DRD3 Ser9Gly polymorphism and treatment response to antipsychotics
            in schizophrenia: A meta-analysis
  JOURNAL   Neurosci Lett 786, 136788 (2022)
   PUBMED   35835396
  REMARK    GeneRIF: DRD3 Ser9Gly polymorphism and treatment response to
            antipsychotics in schizophrenia: A meta-analysis.
REFERENCE   5  (bases 1 to 2770)
  AUTHORS   Sofronov AG, Dobrovolskaya AE, Morozova AY, Gorina EA, Kolchev SA
            and Gvozdetckii AN.
  TITLE     [Association of gene polymorphisms DRD3 rs6280, COMT rs4680 and
            HTR2A rs7322347 with schizophrenia]
  JOURNAL   Zh Nevrol Psikhiatr Im S S Korsakova 122 (7), 115-120 (2022)
   PUBMED   35904302
  REMARK    GeneRIF: [Association of gene polymorphisms DRD3 rs6280, COMT rs4680
            and HTR2A rs7322347 with schizophrenia].', trans 'Assotsiatsiya
            geneticheskikh polimorfizmov rs6280 gena DRD3, rs4680 gena COMT,
            rs7322347 gena HTR2A s shizofreniei.
REFERENCE   6  (bases 1 to 2770)
  AUTHORS   Potenza MN, Graminski GF, Schmauss C and Lerner MR.
  TITLE     Functional expression and characterization of human D2 and D3
            dopamine receptors
  JOURNAL   J Neurosci 14 (3 Pt 2), 1463-1476 (1994)
   PUBMED   7907363
REFERENCE   7  (bases 1 to 2770)
  AUTHORS   Le Coniat M, Sokoloff P, Hillion J, Martres MP, Giros B, Pilon C,
            Schwartz JC and Berger R.
  TITLE     Chromosomal localization of the human D3 dopamine receptor gene
  JOURNAL   Hum Genet 87 (5), 618-620 (1991)
   PUBMED   1916765
REFERENCE   8  (bases 1 to 2770)
  AUTHORS   Sokoloff P, Giros B, Martres MP, Bouthenet ML and Schwartz JC.
  TITLE     Molecular cloning and characterization of a novel dopamine receptor
            (D3) as a target for neuroleptics
  JOURNAL   Nature 347 (6289), 146-151 (1990)
   PUBMED   1975644
REFERENCE   9  (bases 1 to 2770)
  AUTHORS   Giros B, Martres MP, Sokoloff P and Schwartz JC.
  TITLE     [Gene cloning of human dopaminergic D3 receptor and identification
            of its chromosome]
  JOURNAL   C R Acad Sci III 311 (13), 501-508 (1990)
   PUBMED   2129115
REFERENCE   10  (bases 1 to 2770)
  AUTHORS   Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M and Kaziro Y.
  TITLE     Presence of three distinct molecular species of Gi protein alpha
            subunit. Structure of rat cDNAs and human genomic DNAs
  JOURNAL   J Biol Chem 263 (14), 6656-6664 (1988)
   PUBMED   2834384
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC128123.1, SRR1803614.151435.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2151119
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000383673.5/ ENSP00000373169.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY228458.1, AK292309.1,
            BC095510.1 and AC092896.9.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 16, 2019 this sequence version replaced NM_000796.5.
            Summary: This gene encodes the D3 subtype of the five (D1-D5)
            dopamine receptors. The activity of the D3 subtype receptor is
            mediated by G proteins which inhibit adenylyl cyclase. This
            receptor is localized to the limbic areas of the brain, which are
            associated with cognitive, emotional, and endocrine functions.
            Genetic variation in this gene may be associated with
            susceptibility to hereditary essential tremor 1. Alternative
            splicing of this gene results in transcript variants encoding
            different isoforms, although some variants may be subject to
            nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (a) represents the predominant
            transcript and encodes the longer isoform (a). Variants a, f and g
            encode the same isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..2770
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.31"
     gene            1..2770
                     /gene="DRD3"
                     /gene_synonym="D3DR; ETM1; FET1"
                     /note="dopamine receptor D3"
                     /db_xref="GeneID:1814"
                     /db_xref="HGNC:HGNC:3024"
                     /db_xref="MIM:126451"
     misc_feature    393..395
                     /gene="DRD3"
                     /gene_synonym="D3DR; ETM1; FET1"
                     /note="upstream in-frame stop codon"
     CDS             432..1634
                     /gene="DRD3"
                     /gene_synonym="D3DR; ETM1; FET1"
                     /note="isoform a is encoded by transcript variant a;
                     essential tremor 1"
                     /codon_start=1
                     /product="D(3) dopamine receptor isoform a"
                     /protein_id="NP_000787.2"
                     /db_xref="CCDS:CCDS2978.1"
                     /db_xref="GeneID:1814"
                     /db_xref="HGNC:HGNC:3024"
                     /db_xref="MIM:126451"
                     /translation="MASLSQLSGHLNYTCGAENSTGASQARPHAYYALSYCALILAIVF
                     GNGLVCMAVLKERALQTTTNYLVVSLAVADLLVATLVMPWVVYLEVTGGVWNFSRICCD
                     VFVTLDVMMCTASILNLCAISIDRYTAVVMPVHYQHGTGQSSCRRVALMITAVWVLAFA
                     VSCPLLFGFNTTGDPTVCSISNPDFVIYSSVVSFYLPFGVTVLVYARIYVVLKQRRRKR
                     ILTRQNSQCNSVRPGFPQQTLSPDPAHLELKRYYSICQDTALGGPGFQERGGELKREEK
                     TRNSLSPTIAPKLSLEVRKLSNGRLSTSLKLGPLQPRGVPLREKKATQMVAIVLGAFIV
                     CWLPFFLTHVLNTHCQTCHVSPELYSATTWLGYVNSALNPVIYTTFNIEFRKAFLKILS
                     C"
     misc_feature    465..467
                     /gene="DRD3"
                     /gene_synonym="D3DR; ETM1; FET1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35462.3); glycosylation site"
     misc_feature    486..488
                     /gene="DRD3"
                     /gene_synonym="D3DR; ETM1; FET1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35462.3); glycosylation site"
     misc_feature    528..596
                     /gene="DRD3"
                     /gene_synonym="D3DR; ETM1; FET1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35462.3);
                     transmembrane region"
     misc_feature    627..695
                     /gene="DRD3"
                     /gene_synonym="D3DR; ETM1; FET1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35462.3);
                     transmembrane region"
     misc_feature    720..722
                     /gene="DRD3"
                     /gene_synonym="D3DR; ETM1; FET1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35462.3); glycosylation site"
     misc_feature    744..809
                     /gene="DRD3"
                     /gene_synonym="D3DR; ETM1; FET1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35462.3);
                     transmembrane region"
     misc_feature    879..941
                     /gene="DRD3"
                     /gene_synonym="D3DR; ETM1; FET1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35462.3);
                     transmembrane region"
     misc_feature    948..950
                     /gene="DRD3"
                     /gene_synonym="D3DR; ETM1; FET1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35462.3); glycosylation site"
     misc_feature    993..1058
                     /gene="DRD3"
                     /gene_synonym="D3DR; ETM1; FET1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35462.3);
                     transmembrane region"
     misc_feature    1419..1484
                     /gene="DRD3"
                     /gene_synonym="D3DR; ETM1; FET1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35462.3);
                     transmembrane region"
     misc_feature    1530..1589
                     /gene="DRD3"
                     /gene_synonym="D3DR; ETM1; FET1"
                     /note="propagated from UniProtKB/Swiss-Prot (P35462.3);
                     transmembrane region"
     regulatory      2742..2747
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DRD3"
                     /gene_synonym="D3DR; ETM1; FET1"
                     /note="hexamer: AATAAA"
     polyA_site      2770
                     /gene="DRD3"
                     /gene_synonym="D3DR; ETM1; FET1"
                     /note="major polyA site"
ORIGIN
        1 gatagagaga caaagaggaa aagagagcga ggtagaaaac ggatactgcc tatgcctact
       61 ccatccctct ttcagcacca aggacagaac ctctgagcgg ctgacccaag caacgctcag
      121 tttagggtcc ctcccaaatc ctctaaagaa aacggataca ttcgaaagca gctatgaaac
      181 atgcactaag gtctaatagg gaagctggaa aagcagcact caagtaattt caccttagag
      241 gcaaaaatgg gtgatttctt tctgttcatt tcatagtttc tgagtcctga gaaaggcaaa
      301 gtttgctttg cttgggtatg tctgctgtca gtaaatggct gcaggagccg aagtggtaaa
      361 ctcctcggtc tccagaaatc agaagaaaat tttagggaag ccccttggca tcacgcacct
      421 ccctctgggc tatggcatct ctgagccagc tgagtggcca cctgaactac acctgtgggg
      481 cagagaactc cacaggtgcc agccaggccc gcccacatgc ctactatgcc ctctcctact
      541 gcgcgctcat cctggccatc gtcttcggca atggcctggt gtgcatggct gtgctgaagg
      601 agcgggccct gcagactacc accaactact tagtagtgag cctggctgtg gcagacttgc
      661 tggtggccac cttggtgatg ccctgggtgg tatacctgga ggtgacaggt ggagtctgga
      721 atttcagccg catttgctgt gatgtttttg tcaccctgga tgtcatgatg tgtacagcca
      781 gcatccttaa tctctgtgcc atcagcatag acaggtacac tgcagtggtc atgcccgttc
      841 actaccagca tggcacggga cagagctcct gtcggcgcgt ggccctcatg atcacggccg
      901 tctgggtact ggcctttgct gtgtcctgcc ctcttctgtt tggctttaat accacagggg
      961 accccactgt ctgctccatc tccaaccctg attttgtcat ctactcttca gtggtgtcct
     1021 tctacctgcc ctttggagtg actgtccttg tctatgccag aatctatgtg gtgctgaaac
     1081 aaaggagacg gaaaaggatc ctcactcgac agaacagtca gtgcaacagt gtcaggcctg
     1141 gcttccccca gcaaaccctc tctcctgacc cggcacatct ggagctgaag cgttactaca
     1201 gcatctgcca ggacactgcc ttgggtggac caggcttcca agaaagagga ggagagttga
     1261 aaagagagga gaagactcgg aattccctga gtcccaccat agcgcccaag ctcagcttag
     1321 aagttcgaaa actcagcaat ggcagattat cgacatcttt gaagctgggg cccctgcaac
     1381 ctcggggagt gccacttcgg gagaagaagg caacccaaat ggtggccatt gtgcttgggg
     1441 ccttcattgt ctgctggctg cccttcttct tgacccatgt tctcaatacc cactgccaga
     1501 catgccacgt gtccccagag ctttacagtg ccacgacatg gctgggctac gtgaatagcg
     1561 ccctcaaccc tgtgatctat accaccttca atatcgagtt ccggaaagcc ttcctcaaga
     1621 tcctgtcttg ctgagggagc agaagaggga acactctttg tacccatttc tagctgccag
     1681 gctgttggcc cactcagaaa gactgtgcag tgtcctccgg catgcagtag gaagaagatt
     1741 cctggagcca ggatgtccct gcttgtcagg tataaccaga tgtgtcctcc aaaacagaat
     1801 attctacctc cccagctaaa atctgacttc attctgacaa tcttcaaatg actggggagc
     1861 ttccaagtga taagcaataa ttcagaaaga agctgataaa acatgactca cacaaaattg
     1921 tcatcagagg catgattcat tacactgaag gaaaatgaac agatctcatc attctcaact
     1981 tgcaggggtc cttgaaatca gccagtaaac caccttctag aacagccagt ctgtcttcct
     2041 tcaaacctct aattaactgt caggctaacc ttgtactttt acgggcccat tcctcttggt
     2101 catttctttc cttcactgta tctggaactg tgaatggcaa ggccagtgct tctacctctc
     2161 tgtagaatcc gatgggctac atttggtgag gtgaatttct cacaccaaga gaaacactgt
     2221 cccacattgg gatgggggct tcatttcaaa ctttgctacc cttgtatttt agctttagct
     2281 aagaaggctt tctgattcca ttcctttact ctctagagga aatctcagag tctcaacttc
     2341 cagaatcatt caagatgggg atattttctg aagacggaat gacacatccc attgtagttt
     2401 cactgttgaa acttatggtt cagaacatac cttagatatg cttttcataa cactaccaaa
     2461 ttttcctacc cagggcatct ccatttctgc ttaacaggga cccaatatag tggaccacat
     2521 catgacattt tgggcaacag tggaccacat atacaacggt ggtctcataa gataataatg
     2581 gagctgaaga atttctatca cttaatgatg tcatagctgt tgcaacatca tagctcaatg
     2641 cattatttac atgtctgtgg tgatgctggt ataaacaaaa tgatgctgcc agtcgtgtaa
     2701 aagtatacaa ttgtgtacag tacgtaatac ttaatattga taataaatga ctatgttact
     2761 ggtttatgta
//
LOCUS       NM_000797               1399 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens dopamine receptor D4 (DRD4), mRNA.
ACCESSION   NM_000797
VERSION     NM_000797.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1399)
  AUTHORS   Jamnik MR and DiLalla LF.
  TITLE     The impact of dopamine receptor D4, temperamental negativity, and
            household chaos on young twins' externalizing behaviors
  JOURNAL   Dev Psychobiol 65 (4), e22387 (2023)
   PUBMED   37073589
  REMARK    GeneRIF: The impact of dopamine receptor D4, temperamental
            negativity, and household chaos on young twins' externalizing
            behaviors.
REFERENCE   2  (bases 1 to 1399)
  AUTHORS   Clochard GJ, Mbengue A, Mettling C, Diouf B, Faurie C, Sene O,
            Chancerel E, Guichoux E, Hollard G, Raymond M and Willinger M.
  TITLE     The effect of the 7R allele at the DRD4 locus on risk tolerance is
            independent of background risk in Senegalese fishermen
  JOURNAL   Sci Rep 13 (1), 622 (2023)
   PUBMED   36635358
  REMARK    GeneRIF: The effect of the 7R allele at the DRD4 locus on risk
            tolerance is independent of background risk in Senegalese fishermen.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1399)
  AUTHORS   Slominski B, Skrzypkowska M, Mysliwiec M and Trzonkowski P.
  TITLE     Variation in the Dopamine-4-Receptor Gene in Patients with Type 1
            Diabetes
  JOURNAL   Neuroendocrinology 113 (8), 875-884 (2023)
   PUBMED   37080173
  REMARK    GeneRIF: Variation in the Dopamine-4-Receptor Gene in Patients with
            Type 1 Diabetes.
REFERENCE   4  (bases 1 to 1399)
  AUTHORS   Gilman TL, Ford MT, Jasnow AM and Coifman KG.
  TITLE     DRD4 polymorphism associated with greater positive affect in
            response to negative and neutral social stimuli
  JOURNAL   Ann Hum Genet 86 (4), 218-223 (2022)
   PUBMED   35574658
  REMARK    GeneRIF: DRD4 polymorphism associated with greater positive affect
            in response to negative and neutral social stimuli.
REFERENCE   5  (bases 1 to 1399)
  AUTHORS   Chio CL, Drong RF, Riley DT, Gill GS, Slightom JL and Huff RM.
  TITLE     D4 dopamine receptor-mediated signaling events determined in
            transfected Chinese hamster ovary cells
  JOURNAL   J Biol Chem 269 (16), 11813-11819 (1994)
   PUBMED   7512953
REFERENCE   6  (bases 1 to 1399)
  AUTHORS   Livingstone CD, Strange PG and Naylor LH.
  TITLE     Molecular modelling of D2-like dopamine receptors
  JOURNAL   Biochem J 287 (Pt 1) (Pt 1), 277-282 (1992)
   PUBMED   1358063
REFERENCE   7  (bases 1 to 1399)
  AUTHORS   Van Tol HH, Wu CM, Guan HC, Ohara K, Bunzow JR, Civelli O, Kennedy
            J, Seeman P, Niznik HB and Jovanovic V.
  TITLE     Multiple dopamine D4 receptor variants in the human population
  JOURNAL   Nature 358 (6382), 149-152 (1992)
   PUBMED   1319557
REFERENCE   8  (bases 1 to 1399)
  AUTHORS   Gelernter J, Kennedy JL, van Tol HH, Civelli O and Kidd KK.
  TITLE     The D4 dopamine receptor (DRD4) maps to distal 11p close to HRAS
  JOURNAL   Genomics 13 (1), 208-210 (1992)
   PUBMED   1349574
REFERENCE   9  (bases 1 to 1399)
  AUTHORS   Van Tol HH, Bunzow JR, Guan HC, Sunahara RK, Seeman P, Niznik HB and
            Civelli O.
  TITLE     Cloning of the gene for a human dopamine D4 receptor with high
            affinity for the antipsychotic clozapine
  JOURNAL   Nature 350 (6319), 610-614 (1991)
   PUBMED   1840645
REFERENCE   10  (bases 1 to 1399)
  AUTHORS   Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M and Kaziro Y.
  TITLE     Presence of three distinct molecular species of Gi protein alpha
            subunit. Structure of rat cDNAs and human genomic DNAs
  JOURNAL   J Biol Chem 263 (14), 6656-6664 (1988)
   PUBMED   2834384
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: EU432112.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2152568,
            SAMEA2159931 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000176183.6/ ENSP00000176183.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP006284.2, EU432112.1,
            L12398.1 and BM674709.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000797.3.
            Summary: This gene encodes the D4 subtype of the dopamine receptor.
            The D4 subtype is a G-protein coupled receptor which inhibits
            adenylyl cyclase. It is a target for drugs which treat
            schizophrenia and Parkinson disease. Mutations in this gene have
            been associated with various behavioral phenotypes, including
            autonomic nervous system dysfunction, attention
            deficit/hyperactivity disorder, and the personality trait of
            novelty seeking. This gene contains a polymorphic number (2-10
            copies) of tandem 48 nt repeats; the sequence shown contains four
            repeats. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1399
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..1399
                     /gene="DRD4"
                     /gene_synonym="D4DR"
                     /note="dopamine receptor D4"
                     /db_xref="GeneID:1815"
                     /db_xref="HGNC:HGNC:3025"
                     /db_xref="MIM:126452"
     CDS             37..1296
                     /gene="DRD4"
                     /gene_synonym="D4DR"
                     /note="D(2C) dopamine receptor; seven transmembrane helix
                     receptor; dopamine D4 receptor"
                     /codon_start=1
                     /product="D(4) dopamine receptor"
                     /protein_id="NP_000788.2"
                     /db_xref="CCDS:CCDS7710.1"
                     /db_xref="GeneID:1815"
                     /db_xref="HGNC:HGNC:3025"
                     /db_xref="MIM:126452"
                     /translation="MGNRSTADADGLLAGRGPAAGASAGASAGLAGQGAAALVGGVLLI
                     GAVLAGNSLVCVSVATERALQTPTNSFIVSLAAADLLLALLVLPLFVYSEVQGGAWLLS
                     PRLCDALMAMDVMLCTASIFNLCAISVDRFVAVAVPLRYNRQGGSRRQLLLIGATWLLS
                     AAVAAPVLCGLNDVRGRDPAVCRLEDRDYVVYSSVCSFFLPCPLMLLLYWATFRGLQRW
                     EVARRAKLHGRAPRRPSGPGPPSPTPPAPRLPQDPCGPDCAPPAPGLPRGPCGPDCAPA
                     APSLPQDPCGPDCAPPAPGLPPDPCGSNCAPPDAVRAAALPPQTPPQTRRRRRAKITGR
                     ERKAMRVLPVVVGAFLLCWTPFFVVHITQALCPACSVPPRLVSAVTWLGYVNSALNPVI
                     YTVFNAEFRNVFRKALRACC"
     misc_feature    43..45
                     /gene="DRD4"
                     /gene_synonym="D4DR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P21917.3); glycosylation site"
     misc_feature    124..186
                     /gene="DRD4"
                     /gene_synonym="D4DR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21917.3);
                     transmembrane region"
     misc_feature    250..312
                     /gene="DRD4"
                     /gene_synonym="D4DR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21917.3);
                     transmembrane region"
     misc_feature    367..429
                     /gene="DRD4"
                     /gene_synonym="D4DR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21917.3);
                     transmembrane region"
     misc_feature    493..555
                     /gene="DRD4"
                     /gene_synonym="D4DR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21917.3);
                     transmembrane region"
     misc_feature    613..675
                     /gene="DRD4"
                     /gene_synonym="D4DR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21917.3);
                     transmembrane region"
     misc_feature    724..828
                     /gene="DRD4"
                     /gene_synonym="D4DR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21917.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    781..972
                     /gene="DRD4"
                     /gene_synonym="D4DR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21917.3);
                     Region: 4 X 16 AA approximate tandem repeats of
                     [PA]-A-P-G-L-P-[PQR]-[DG]-P-C-G-P-D-C-A-P"
     misc_feature    985..1044
                     /gene="DRD4"
                     /gene_synonym="D4DR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21917.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1075..1137
                     /gene="DRD4"
                     /gene_synonym="D4DR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21917.3);
                     transmembrane region"
     misc_feature    1183..1245
                     /gene="DRD4"
                     /gene_synonym="D4DR"
                     /note="propagated from UniProtKB/Swiss-Prot (P21917.3);
                     transmembrane region"
     regulatory      1382..1387
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DRD4"
                     /gene_synonym="D4DR"
                     /note="hexamer: AACAAA"
     polyA_site      1399
                     /gene="DRD4"
                     /gene_synonym="D4DR"
                     /note="major polyA site"
ORIGIN
        1 gttgtccgcg gtgctcagcg cccgcccggg cgcgccatgg ggaaccgcag caccgcggac
       61 gcggacgggc tgctggctgg gcgcgggccg gccgcggggg catctgcggg ggcatctgcg
      121 gggctggctg ggcagggcgc ggcggcgctg gtggggggcg tgctgctcat cggcgcggtg
      181 ctcgcgggga actcgctcgt gtgcgtgagc gtggccaccg agcgcgccct gcagacgccc
      241 accaactcct tcatcgtgag cctggcggcc gccgacctcc tcctcgctct cctggtgctg
      301 ccgctcttcg tctactccga ggtccagggt ggcgcgtggc tgctgagccc ccgcctgtgc
      361 gacgccctca tggccatgga cgtcatgctg tgcaccgcct ccatcttcaa cctgtgcgcc
      421 atcagcgtgg acaggttcgt ggccgtggcc gtgccgctgc gctacaaccg gcagggtggg
      481 agccgccggc agctgctgct catcggcgcc acgtggctgc tgtccgcggc ggtggcggcg
      541 cccgtactgt gcggcctcaa cgacgtgcgc ggccgcgacc ccgccgtgtg ccgcctggag
      601 gaccgcgact acgtggtcta ctcgtccgtg tgctccttct tcctaccctg cccgctcatg
      661 ctgctgctct actgggccac gttccgcggc ctgcagcgct gggaggtggc acgtcgcgcc
      721 aagctgcacg gccgcgcgcc ccgccgaccc agcggccctg gcccgccttc ccccacgcca
      781 cccgcgcccc gcctccccca ggacccctgc ggccccgact gtgcgccccc cgcgcccggc
      841 cttccccggg gtccctgcgg ccccgactgt gcgcccgccg cgcccagcct cccccaggac
      901 ccctgcggcc ccgactgtgc gccccccgcg cccggcctcc ccccggaccc ctgcggctcc
      961 aactgtgctc cccccgacgc cgtcagagcc gccgcgctcc caccccagac tccaccgcag
     1021 acccgcagga ggcggcgtgc caagatcacc ggccgggagc gcaaggccat gagggtcctg
     1081 ccggtggtgg tcggggcctt cctgctgtgc tggacgccct tcttcgtggt gcacatcacg
     1141 caggcgctgt gtcctgcctg ctccgtgccc ccgcggctgg tcagcgccgt cacctggctg
     1201 ggctacgtca acagcgccct caaccccgtc atctacactg tcttcaacgc cgagttccgc
     1261 aacgtcttcc gcaaggccct gcgtgcctgc tgctgagccg ggcacccccg gacgcccccc
     1321 ggcctgatgg ccaggcctca gggaccaagg agatggggag ggcgcttttg tacgttaatt
     1381 aaacaaattc cttcccaaa
//
LOCUS       NM_000798               2376 bp    mRNA    linear   PRI 26-FEB-2023
DEFINITION  Homo sapiens dopamine receptor D5 (DRD5), mRNA.
ACCESSION   NM_000798
VERSION     NM_000798.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2376)
  AUTHORS   O'Higgins M, Benito A, Real-Lopez M, Gil-Miravet I, Ochoa E and Haro
            G.
  TITLE     Relationship of DRD5 and MAO-B VNTR polymorphisms with paranoid and
            antisocial personality disorders in polydrug users
  JOURNAL   Personal Ment Health 17 (1), 77-86 (2023)
   PUBMED   35961947
  REMARK    GeneRIF: Relationship of DRD5 and MAO-B VNTR polymorphisms with
            paranoid and antisocial personality disorders in polydrug users.
REFERENCE   2  (bases 1 to 2376)
  AUTHORS   Bai R, Mei J and Hu W.
  TITLE     Hypermethylation of DRD5 Promoter Is a Biomarker Across 12 Cancer
            Types
  JOURNAL   DNA Cell Biol 39 (11), 2052-2058 (2020)
   PUBMED   32907377
  REMARK    GeneRIF: Hypermethylation of DRD5 Promoter Is a Biomarker Across 12
            Cancer Types.
REFERENCE   3  (bases 1 to 2376)
  AUTHORS   Lee CG, Moon H and Park S.
  TITLE     The effects of dopamine receptor genes on the trajectories of sport
            participation from adolescence through young adulthood
  JOURNAL   Ann Hum Biol 47 (3), 256-262 (2020)
   PUBMED   32183536
  REMARK    GeneRIF: The effects of dopamine receptor genes on the trajectories
            of sport participation from adolescence through young adulthood.
REFERENCE   4  (bases 1 to 2376)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2376)
  AUTHORS   Wang S, Tan X, Chen P, Zheng S, Ren H, Cai J, Zhou L, Jose PA, Yang
            J and Zeng C.
  TITLE     Role of Thioredoxin 1 in Impaired Renal Sodium Excretion of hD 5 R
            F173L Transgenic Mice
  JOURNAL   J Am Heart Assoc 8 (8), e012192 (2019)
   PUBMED   30957627
  REMARK    GeneRIF: These suggest that hD5R(F173L) increases blood pressure, in
            part, by decreasing renal thioredoxin 1 expression and increasing
            reactive oxygen species production. Hyperphosphorylation of
            hD5R(F173L), with its dissociation from Galphas and Galphaq, is the
            key factor in impaired D5R function of hD5R(F173L)-TG mice.
REFERENCE   6  (bases 1 to 2376)
  AUTHORS   Grandy DK, Allen LJ, Zhang Y, Magenis RE and Civelli O.
  TITLE     Chromosomal localization of three human D5 dopamine receptor genes
  JOURNAL   Genomics 13 (4), 968-973 (1992)
   PUBMED   1387108
REFERENCE   7  (bases 1 to 2376)
  AUTHORS   Eubanks JH, Altherr M, Wagner-McPherson C, McPherson JD, Wasmuth JJ
            and Evans GA.
  TITLE     Localization of the D5 dopamine receptor gene to human chromosome
            4p15.1-p15.3, centromeric to the Huntington's disease locus
  JOURNAL   Genomics 12 (3), 510-516 (1992)
   PUBMED   1532789
REFERENCE   8  (bases 1 to 2376)
  AUTHORS   Polymeropoulos MH, Xiao H and Merril CR.
  TITLE     The human D5 dopamine receptor (DRD5) maps on chromosome 4
  JOURNAL   Genomics 11 (3), 777-778 (1991)
   PUBMED   1774076
REFERENCE   9  (bases 1 to 2376)
  AUTHORS   Tiberi M, Jarvie KR, Silvia C, Falardeau P, Gingrich JA, Godinot N,
            Bertrand L, Yang-Feng TL, Fremeau RT Jr and Caron MG.
  TITLE     Cloning, molecular characterization, and chromosomal assignment of a
            gene encoding a second D1 dopamine receptor subtype: differential
            expression pattern in rat brain compared with the D1A receptor
  JOURNAL   Proc Natl Acad Sci U S A 88 (17), 7491-7495 (1991)
   PUBMED   1831904
REFERENCE   10  (bases 1 to 2376)
  AUTHORS   Sunahara RK, Guan HC, O'Dowd BF, Seeman P, Laurier LG, Ng G, George
            SR, Torchia J, Van Tol HH and Niznik HB.
  TITLE     Cloning of the gene for a human dopamine D5 receptor with higher
            affinity for dopamine than D1
  JOURNAL   Nature 350 (6319), 614-619 (1991)
   PUBMED   1826762
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC009748.2, SRR1803615.117444.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000304374.4/ ENSP00000306129.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC098976.2 and BC009748.2.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000798.4.
            Summary: This gene encodes the D5 subtype of the dopamine receptor.
            The D5 subtype is a G-protein coupled receptor which stimulates
            adenylyl cyclase. This receptor is expressed in neurons in the
            limbic regions of the brain. It has a 10-fold higher affinity for
            dopamine than the D1 subtype. Pseudogenes related to this gene
            reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments and orthologous data.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2376
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.1"
     gene            1..2376
                     /gene="DRD5"
                     /gene_synonym="DBDR; DRD1B; DRD1L2"
                     /note="dopamine receptor D5"
                     /db_xref="GeneID:1816"
                     /db_xref="HGNC:HGNC:3026"
                     /db_xref="MIM:126453"
     misc_feature    352..354
                     /gene="DRD5"
                     /gene_synonym="DBDR; DRD1B; DRD1L2"
                     /note="upstream in-frame stop codon"
     CDS             397..1830
                     /gene="DRD5"
                     /gene_synonym="DBDR; DRD1B; DRD1L2"
                     /note="D1beta dopamine receptor; dopamine receptor D1B;
                     dopamine D5 receptor; d(5) dopamine receptor"
                     /codon_start=1
                     /product="D(1B) dopamine receptor"
                     /protein_id="NP_000789.1"
                     /db_xref="CCDS:CCDS3405.1"
                     /db_xref="GeneID:1816"
                     /db_xref="HGNC:HGNC:3026"
                     /db_xref="MIM:126453"
                     /translation="MLPPGSNGTAYPGQFALYQQLAQGNAVGGSAGAPPLGPSQVVTAC
                     LLTLLIIWTLLGNVLVCAAIVRSRHLRANMTNVFIVSLAVSDLFVALLVMPWKAVAEVA
                     GYWPFGAFCDVWVAFDIMCSTASILNLCVISVDRYWAISRPFRYKRKMTQRMALVMVGL
                     AWTLSILISFIPVQLNWHRDQAASWGGLDLPNNLANWTPWEEDFWEPDVNAENCDSSLN
                     RTYAISSSLISFYIPVAIMIVTYTRIYRIAQVQIRRISSLERAAEHAQSCRSSAACAPD
                     TSLRASIKKETKVLKTLSVIMGVFVCCWLPFFILNCMVPFCSGHPEGPPAGFPCVSETT
                     FDVFVWFGWANSSLNPVIYAFNADFQKVFAQLLGCSHFCSRTPVETVNISNELISYNQD
                     IVFHKEIAAAYIHMMPNAVTPGNREVDNDEEEGPFDRMFQIYQTSPDGDPVAESVWELD
                     CEGEISLDKITPFTPNGFH"
     misc_feature    415..417
                     /gene="DRD5"
                     /gene_synonym="DBDR; DRD1B; DRD1L2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:10531415; propagated from
                     UniProtKB/Swiss-Prot (P21918.2); glycosylation site"
     misc_feature    514..594
                     /gene="DRD5"
                     /gene_synonym="DBDR; DRD1B; DRD1L2"
                     /note="propagated from UniProtKB/Swiss-Prot (P21918.2);
                     transmembrane region"
     misc_feature    628..708
                     /gene="DRD5"
                     /gene_synonym="DBDR; DRD1B; DRD1L2"
                     /note="propagated from UniProtKB/Swiss-Prot (P21918.2);
                     transmembrane region"
     misc_feature    739..804
                     /gene="DRD5"
                     /gene_synonym="DBDR; DRD1B; DRD1L2"
                     /note="propagated from UniProtKB/Swiss-Prot (P21918.2);
                     transmembrane region"
     misc_feature    871..936
                     /gene="DRD5"
                     /gene_synonym="DBDR; DRD1B; DRD1L2"
                     /note="propagated from UniProtKB/Swiss-Prot (P21918.2);
                     transmembrane region"
     misc_feature    1060..1062
                     /gene="DRD5"
                     /gene_synonym="DBDR; DRD1B; DRD1L2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P21918.2); glycosylation site"
     misc_feature    1066..1134
                     /gene="DRD5"
                     /gene_synonym="DBDR; DRD1B; DRD1L2"
                     /note="propagated from UniProtKB/Swiss-Prot (P21918.2);
                     transmembrane region"
     misc_feature    1285..1356
                     /gene="DRD5"
                     /gene_synonym="DBDR; DRD1B; DRD1L2"
                     /note="propagated from UniProtKB/Swiss-Prot (P21918.2);
                     transmembrane region"
     misc_feature    1417..1476
                     /gene="DRD5"
                     /gene_synonym="DBDR; DRD1B; DRD1L2"
                     /note="propagated from UniProtKB/Swiss-Prot (P21918.2);
                     transmembrane region"
     regulatory      2356..2361
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DRD5"
                     /gene_synonym="DBDR; DRD1B; DRD1L2"
                     /note="hexamer: AATAAA"
     polyA_site      2376
                     /gene="DRD5"
                     /gene_synonym="DBDR; DRD1B; DRD1L2"
                     /note="major polyA site"
ORIGIN
        1 agtgccagcc tggcgcccgc gactgcctgc cccagcccct cagtggcggc ttgctctctt
       61 ctctcgctcc gaaccagaca cagccgctgc cgctgccgtc cggcgcgcta cagactcccg
      121 agaacagccc tggctgtcag cgagcaccag ccgcttcctg tccccatcgc ggagactgga
      181 ggggcgcacc acggccatgg agccagaggc gcttcaggag gcaagagaag tccccgcgcg
      241 ctccgcagcc cggcgcagct catggtgagc gccctctggg gctcgagggt cccttggctg
      301 agggggcgca tcctcggggt gcccgatggg gctgcctggg ggtcgcaggg ctgaagttgg
      361 gaccgcgcac agaccgcccc tgcagtccag cccgaaatgc tgccgccagg cagcaacggc
      421 accgcgtacc cggggcagtt cgctctatac cagcagctgg cgcaggggaa cgccgtgggg
      481 ggctcggcgg gggcaccgcc actggggccc tcacaggtgg tcaccgcctg cctgctgacc
      541 ctactcatca tctggaccct gctgggcaac gtgctggtgt gcgcagccat cgtgcggagc
      601 cgccacctgc gcgccaacat gaccaacgtc ttcatcgtgt ctctggccgt gtcagacctt
      661 ttcgtggcgc tgctggtcat gccctggaag gcagtcgccg aggtggccgg ttactggccc
      721 tttggagcgt tctgcgacgt ctgggtggcc ttcgacatca tgtgctccac tgcctccatc
      781 ctgaacctgt gcgtcatcag cgtggaccgc tactgggcca tctccaggcc cttccgctac
      841 aagcgcaaga tgactcagcg catggccttg gtcatggtcg gcctggcatg gaccttgtcc
      901 atcctcatct ccttcattcc ggtccagctc aactggcaca gggaccaggc ggcctcttgg
      961 ggcgggctgg acctgccaaa caacctggcc aactggacgc cctgggagga ggacttttgg
     1021 gagcccgacg tgaatgcaga gaactgtgac tccagcctga atcgaaccta cgccatctct
     1081 tcctcgctca tcagcttcta catccccgtt gccatcatga tcgtgaccta cacgcgcatc
     1141 taccgcatcg cccaggtgca gatccgcagg atttcctccc tggagagggc cgcagagcac
     1201 gcgcagagct gccggagcag cgcagcctgc gcgcccgaca ccagcctgcg cgcttccatc
     1261 aagaaggaga ccaaggttct caagaccctg tcggtgatca tgggggtctt cgtgtgttgc
     1321 tggctgccct tcttcatcct taactgcatg gtccctttct gcagtggaca ccccgaaggc
     1381 cctccggccg gcttcccctg cgtcagtgag accaccttcg acgtcttcgt ctggttcggc
     1441 tgggctaact cctcactcaa ccccgtcatc tatgccttca acgccgactt tcagaaggtg
     1501 tttgcccagc tgctggggtg cagccacttc tgctcccgca cgccggtgga gacggtgaac
     1561 atcagcaatg agctcatctc ctacaaccaa gacatcgtct tccacaagga aatcgcagct
     1621 gcctacatcc acatgatgcc caacgccgtt acccccggca accgggaggt ggacaacgac
     1681 gaggaggagg gtcctttcga tcgcatgttc cagatctatc agacgtcccc agatggtgac
     1741 cctgttgctg agtctgtctg ggagctggac tgcgaggggg agatttcttt agacaaaata
     1801 acacctttca ccccgaatgg attccattaa actgcattaa gaaaccccct catggatctg
     1861 cataaccgca cagacattga caagcacgca cacacacgca aatacatgcc tttccagtgc
     1921 tgctcccttt atcatgtgtt tctgtgtagt agctcgtgtg cttagaaacc tcaccccatt
     1981 gattggtagt tcgaagaatt ggcagaagca gttgcaataa actcagtcaa atgtacccag
     2041 cctaccagag atggaccaac gatcctatga gagaagagag tatggtgctg ggtccttaaa
     2101 aaaaaaaatg atacttggtc cttaaaaaat atgctctccc ctcccttttt aaacaaatgg
     2161 cttgttcagt cacttgtttg tgtttgaatt gatttttaaa cagcaggttg tgtgtgtgtg
     2221 cagtgatgtg gtgggagcac agctttcctg ggtctggatt cccgtggctt tgtgcttatg
     2281 tcatttcttc tctctgtgct ggtgggggcc tctttaccat agcttaagaa gtatccctga
     2341 tttattctgg tgtctaataa acacagatta tttgta
//
LOCUS       NM_000799               1662 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens erythropoietin (EPO), mRNA.
ACCESSION   NM_000799
VERSION     NM_000799.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1662)
  AUTHORS   Wong WK, Chan WK, Ganapathy S and Lim SK.
  TITLE     Is metabolic-dysfunction-associated fatty liver disease or advanced
            liver fibrosis associated with erythropoietin stimulating agent
            hypo-responsiveness among patients with end-stage kidney disease on
            haemodialysis?
  JOURNAL   Nephrology (Carlton) 28 (8), 425-433 (2023)
   PUBMED   37269220
  REMARK    GeneRIF: Is metabolic-dysfunction-associated fatty liver disease or
            advanced liver fibrosis associated with erythropoietin stimulating
            agent hypo-responsiveness among patients with end-stage kidney
            disease on haemodialysis?
REFERENCE   2  (bases 1 to 1662)
  AUTHORS   Delaney KM, Barad A, Castillo LF, Hasund CM, Guillet R, Pressman EK,
            Katzman PJ, Ganz T, Nemeth E and O'Brien KO.
  TITLE     Placental Erythroferrone and Erythropoietin mRNA Expression is not
            Associated with Maternal or Neonatal Iron Status in Adolescents
            Carrying Singletons and Adult Women Carrying Multiples
  JOURNAL   J Nutr 153 (7), 1950-1958 (2023)
   PUBMED   37253412
  REMARK    GeneRIF: Placental Erythroferrone and Erythropoietin mRNA Expression
            is not Associated with Maternal or Neonatal Iron Status in
            Adolescents Carrying Singletons and Adult Women Carrying Multiples.
REFERENCE   3  (bases 1 to 1662)
  AUTHORS   Kragesteen BK, Giladi A, David E, Halevi S, Geirsdottir L, Lempke
            OM, Li B, Bapst AM, Xie K, Katzenelenbogen Y, Dahl SL, Sheban F,
            Gurevich-Shapiro A, Zada M, Phan TS, Avellino R, Wang SY, Barboy O,
            Shlomi-Loubaton S, Winning S, Markwerth PP, Dekalo S, Keren-Shaul H,
            Kedmi M, Sikora M, Fandrey J, Korneliussen TS, Prchal JT, Rosenzweig
            B, Yutkin V, Racimo F, Willerslev E, Gur C, Wenger RH and Amit I.
  TITLE     The transcriptional and regulatory identity of erythropoietin
            producing cells
  JOURNAL   Nat Med 29 (5), 1191-1200 (2023)
   PUBMED   37106166
  REMARK    GeneRIF: The transcriptional and regulatory identity of
            erythropoietin producing cells.
REFERENCE   4  (bases 1 to 1662)
  AUTHORS   Muhammad TG, Haroon ZH, Younas M, Munir MU, Mukhtar MA and Anwar M.
  TITLE     Correlation of Serum Erythropoietin Levels with Different Stages of
            Diabetic Retinopathy
  JOURNAL   J Coll Physicians Surg Pak 33 (4), 380-384 (2023)
   PUBMED   37190707
  REMARK    GeneRIF: Correlation of Serum Erythropoietin Levels with Different
            Stages of Diabetic Retinopathy.
REFERENCE   5  (bases 1 to 1662)
  AUTHORS   Bunn HF.
  TITLE     Erythropoietin
  JOURNAL   Cold Spring Harb Perspect Med 3 (3), a011619 (2013)
   PUBMED   23457296
  REMARK    Review article Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1662)
  AUTHORS   Wenger RH and Kurtz A.
  TITLE     Erythropoietin
  JOURNAL   Compr Physiol 1 (4), 1759-1794 (2011)
   PUBMED   23733688
  REMARK    Review article
REFERENCE   7  (bases 1 to 1662)
  AUTHORS   Takeuchi M and Kobata A.
  TITLE     Structures and functional roles of the sugar chains of human
            erythropoietins
  JOURNAL   Glycobiology 1 (4), 337-346 (1991)
   PUBMED   1820196
  REMARK    Review article
REFERENCE   8  (bases 1 to 1662)
  AUTHORS   Goldberg MA, Dunning SP and Bunn HF.
  TITLE     Regulation of the erythropoietin gene: evidence that the oxygen
            sensor is a heme protein
  JOURNAL   Science 242 (4884), 1412-1415 (1988)
   PUBMED   2849206
REFERENCE   9  (bases 1 to 1662)
  AUTHORS   Sasaki H, Ochi N, Dell A and Fukuda M.
  TITLE     Site-specific glycosylation of human recombinant erythropoietin:
            analysis of glycopeptides or peptides at each glycosylation site by
            fast atom bombardment mass spectrometry
  JOURNAL   Biochemistry 27 (23), 8618-8626 (1988)
   PUBMED   3219367
REFERENCE   10  (bases 1 to 1662)
  AUTHORS   Watkins,P.C., Eddy,R., Hoffman,N., Stanislovitis,P., Beck,A.K.,
            Galli,J., Vellucci,V., Gusella,J.F. and Shows,T.B.
  TITLE     Regional assignment of the erythropoietin gene to human chromosome
            region 7pter----q22
  JOURNAL   Cytogenet Cell Genet 42 (4), 214-218 (1986)
   PUBMED   2875851
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X02157.1, BC093628.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2158188,
            SAMEA2159368 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000252723.3/ ENSP00000252723.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009488.5, X02157.1 and
            S65458.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000799.3.
            Summary: This gene encodes a secreted, glycosylated cytokine
            composed of four alpha helical bundles. The encoded protein is
            mainly synthesized in the kidney, secreted into the blood plasma,
            and binds to the erythropoietin receptor to promote red blood cell
            production, or erythropoiesis, in the bone marrow. Expression of
            this gene is upregulated under hypoxic conditions, in turn leading
            to increased erythropoiesis and enhanced oxygen-carrying capacity
            of the blood. Expression of this gene has also been observed in
            brain and in the eye, and elevated expression levels have been
            observed in diabetic retinopathy and ocular hypertension.
            Recombinant forms of the encoded protein exhibit neuroprotective
            activity against a variety of potential brain injuries, as well as
            antiapoptotic functions in several tissue types, and have been used
            in the treatment of anemia and to enhance the efficacy of cancer
            therapies. [provided by RefSeq, Aug 2017].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1662
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..1662
                     /gene="EPO"
                     /gene_synonym="DBAL; ECYT5; EP; MVCD2"
                     /note="erythropoietin"
                     /db_xref="GeneID:2056"
                     /db_xref="HGNC:HGNC:3415"
                     /db_xref="MIM:133170"
     misc_feature    448..450
                     /gene="EPO"
                     /gene_synonym="DBAL; ECYT5; EP; MVCD2"
                     /note="upstream in-frame stop codon"
     CDS             514..1095
                     /gene="EPO"
                     /gene_synonym="DBAL; ECYT5; EP; MVCD2"
                     /note="epoetin"
                     /codon_start=1
                     /product="erythropoietin precursor"
                     /protein_id="NP_000790.2"
                     /db_xref="CCDS:CCDS5705.1"
                     /db_xref="GeneID:2056"
                     /db_xref="HGNC:HGNC:3415"
                     /db_xref="MIM:133170"
                     /translation="MGVHECPAWLWLLLSLLSLPLGLPVLGAPPRLICDSRVLERYLLE
                     AKEAENITTGCAEHCSLNENITVPDTKVNFYAWKRMEVGQQAVEVWQGLALLSEAVLRG
                     QALLVNSSQPWEPLQLHVDKAVSGLRSLTTLLRALGAQKEAISPPDAASAAPLRTITAD
                     TFRKLFRVYSNFLRGKLKLYTGEACRTGDR"
     sig_peptide     514..594
                     /gene="EPO"
                     /gene_synonym="DBAL; ECYT5; EP; MVCD2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    664..666
                     /gene="EPO"
                     /gene_synonym="DBAL; ECYT5; EP; MVCD2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:3949763. /id=CAR_000052;
                     propagated from UniProtKB/Swiss-Prot (P01588.1);
                     glycosylation site"
     misc_feature    706..708
                     /gene="EPO"
                     /gene_synonym="DBAL; ECYT5; EP; MVCD2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:3949763. /id=CAR_000166;
                     propagated from UniProtKB/Swiss-Prot (P01588.1);
                     glycosylation site"
     misc_feature    841..843
                     /gene="EPO"
                     /gene_synonym="DBAL; ECYT5; EP; MVCD2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:3949763. /id=CAR_000192;
                     propagated from UniProtKB/Swiss-Prot (P01588.1);
                     glycosylation site"
     misc_feature    970..972
                     /gene="EPO"
                     /gene_synonym="DBAL; ECYT5; EP; MVCD2"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:3949763; propagated from
                     UniProtKB/Swiss-Prot (P01588.1); glycosylation site"
     polyA_site      1662
                     /gene="EPO"
                     /gene_synonym="DBAL; ECYT5; EP; MVCD2"
                     /note="major polyA site"
ORIGIN
        1 cctttcccag atagcacgct ccgccagtcc caagggtgcg caaccggctg cactcccctc
       61 ccgcgaccca gggcccggga gcagccccca tgacccacac gcacgtctgc agcagccccg
      121 ctcacgcccc ggcgagcctc aacccaggcg tcctgcccct gctctgaccc cgggtggccc
      181 ctacccctgg cgacccctca cgcacacagc ctctccccca cccccacccg cgcacgcaca
      241 catgcagata acagccccga cccccggcca gagccgcaga gtccctgggc caccccggcc
      301 gctcgctgcg ctgcgccgca ccgcgctgtc ctcccggagc cggaccgggg ccaccgcgcc
      361 cgctctgctc cgacaccgcg ccccctggac agccgccctc tcctccaggc ccgtggggct
      421 ggccctgcac cgccgagctt cccgggatga gggcccccgg tgtggtcacc cggcgcgccc
      481 caggtcgctg agggaccccg gccaggcgcg gagatggggg tgcacgaatg tcctgcctgg
      541 ctgtggcttc tcctgtccct gctgtcgctc cctctgggcc tcccagtcct gggcgcccca
      601 ccacgcctca tctgtgacag ccgagtcctg gagaggtacc tcttggaggc caaggaggcc
      661 gagaatatca cgacgggctg tgctgaacac tgcagcttga atgagaatat cactgtccca
      721 gacaccaaag ttaatttcta tgcctggaag aggatggagg tcgggcagca ggccgtagaa
      781 gtctggcagg gcctggccct gctgtcggaa gctgtcctgc ggggccaggc cctgttggtc
      841 aactcttccc agccgtggga gcccctgcag ctgcatgtgg ataaagccgt cagtggcctt
      901 cgcagcctca ccactctgct tcgggctctg ggagcccaga aggaagccat ctcccctcca
      961 gatgcggcct cagctgctcc actccgaaca atcactgctg acactttccg caaactcttc
     1021 cgagtctact ccaatttcct ccggggaaag ctgaagctgt acacagggga ggcctgcagg
     1081 acaggggaca gatgaccagg tgtgtccacc tgggcatatc caccacctcc ctcaccaaca
     1141 ttgcttgtgc cacaccctcc cccgccactc ctgaaccccg tcgaggggct ctcagctcag
     1201 cgccagcctg tcccatggac actccagtgc cagcaatgac atctcagggg ccagaggaac
     1261 tgtccagaga gcaactctga gatctaagga tgtcacaggg ccaacttgag ggcccagagc
     1321 aggaagcatt cagagagcag ctttaaactc agggacagag ccatgctggg aagacgcctg
     1381 agctcactcg gcaccctgca aaatttgatg ccaggacacg ctttggaggc gatttacctg
     1441 ttttcgcacc taccatcagg gacaggatga cctggataac ttaggtggca agctgtgact
     1501 tctccaggtc tcacgggcat gggcactccc ttggtggcaa gagccccctt gacaccgggg
     1561 tggtgggaac catgaagaca ggatgggggc tggcctctgg ctctcatggg gtccaagttt
     1621 tgtgtattct tcaacctcat tgacaagaac tgaaaccacc aa
//
LOCUS       NM_000800               3748 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens fibroblast growth factor 1 (FGF1), transcript variant
            1, mRNA.
ACCESSION   NM_000800
VERSION     NM_000800.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3748)
  AUTHORS   Gao Y, Wang Y, Yu J and Guo R.
  TITLE     FGF Exhibits an Important Biological Role on Regulating Cell
            Proliferation of Breast Cancer When it Transports Into The Cell
            Nuclei
  JOURNAL   Cell Biochem Biophys 80 (2), 311-320 (2022)
   PUBMED   34796419
  REMARK    GeneRIF: FGF Exhibits an Important Biological Role on Regulating
            Cell Proliferation of Breast Cancer When it Transports Into The Cell
            Nuclei.
REFERENCE   2  (bases 1 to 3748)
  AUTHORS   Wang D, Wang C, Sun L, Lu X, Shi J, Chen J and Zhang X.
  TITLE     MiR-143-3p Increases the Radiosensitivity of Breast Cancer Cells
            Through FGF1
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 67 (5), 256-262 (2022)
   PUBMED   35818245
  REMARK    GeneRIF: MiR-143-3p Increases the Radiosensitivity of Breast Cancer
            Cells Through FGF1. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3748)
  AUTHORS   Lampart A, Sluzalska KD, Czyrek A, Szerszen A, Otlewski J, Wiedlocha
            A and Zakrzewska M.
  TITLE     Nuclear Localization Sequence of FGF1 Is Not Required for Its
            Intracellular Anti-Apoptotic Activity in Differentiated Cells
  JOURNAL   Cells 11 (3), 522 (2022)
   PUBMED   35159330
  REMARK    GeneRIF: Nuclear Localization Sequence of FGF1 Is Not Required for
            Its Intracellular Anti-Apoptotic Activity in Differentiated Cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3748)
  AUTHORS   Govind Kumar V, Agrawal S, Kumar TKS and Moradi M.
  TITLE     Mechanistic Picture for Monomeric Human Fibroblast Growth Factor 1
            Stabilization by Heparin Binding
  JOURNAL   J Phys Chem B 125 (46), 12690-12697 (2021)
   PUBMED   34762427
  REMARK    GeneRIF: Mechanistic Picture for Monomeric Human Fibroblast Growth
            Factor 1 Stabilization by Heparin Binding.
REFERENCE   5  (bases 1 to 3748)
  AUTHORS   Kumar V, Goutam RS, Park S, Lee U and Kim J.
  TITLE     Functional Roles of FGF Signaling in Early Development of Vertebrate
            Embryos
  JOURNAL   Cells 10 (8), 2148 (2021)
   PUBMED   34440915
  REMARK    GeneRIF: Functional Roles of FGF Signaling in Early Development of
            Vertebrate Embryos. Review article Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3748)
  AUTHORS   Beenken A and Mohammadi M.
  TITLE     The FGF family: biology, pathophysiology and therapy
  JOURNAL   Nat Rev Drug Discov 8 (3), 235-253 (2009)
   PUBMED   19247306
  REMARK    Review article
REFERENCE   7  (bases 1 to 3748)
  AUTHORS   Yu YL, Kha H, Golden JA, Migchielsen AA, Goetzl EJ and Turck CW.
  TITLE     An acidic fibroblast growth factor protein generated by alternate
            splicing acts like an antagonist
  JOURNAL   J Exp Med 175 (4), 1073-1080 (1992)
   PUBMED   1372643
REFERENCE   8  (bases 1 to 3748)
  AUTHORS   Zhu X, Komiya H, Chirino A, Faham S, Fox GM, Arakawa T, Hsu BT and
            Rees DC.
  TITLE     Three-dimensional structures of acidic and basic fibroblast growth
            factors
  JOURNAL   Science 251 (4989), 90-93 (1991)
   PUBMED   1702556
REFERENCE   9  (bases 1 to 3748)
  AUTHORS   Dionne CA, Crumley G, Bellot F, Kaplow JM, Searfoss G, Ruta M,
            Burgess WH, Jaye M and Schlessinger J.
  TITLE     Cloning and expression of two distinct high-affinity receptors
            cross-reacting with acidic and basic fibroblast growth factors
  JOURNAL   EMBO J 9 (9), 2685-2692 (1990)
   PUBMED   1697263
REFERENCE   10  (bases 1 to 3748)
  AUTHORS   Chiu IM, Wang WP and Lehtoma K.
  TITLE     Alternative splicing generates two forms of mRNA coding for human
            heparin-binding growth factor 1
  JOURNAL   Oncogene 5 (5), 755-762 (1990)
   PUBMED   1693186
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.34102.1,
            SRR1803615.135343.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2157437,
            SAMN03267763 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000337706.7/ ENSP00000338548.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA189432.1, AC005370.1 and
            AI283639.1.
            On Nov 23, 2018 this sequence version replaced NM_000800.4.
            Summary: The protein encoded by this gene is a member of the
            fibroblast growth factor (FGF) family. FGF family members possess
            broad mitogenic and cell survival activities, and are involved in a
            variety of biological processes, including embryonic development,
            cell growth, morphogenesis, tissue repair, tumor growth and
            invasion. This protein functions as a modifier of endothelial cell
            migration and proliferation, as well as an angiogenic factor. It
            acts as a mitogen for a variety of mesoderm- and
            neuroectoderm-derived cells in vitro, thus is thought to be
            involved in organogenesis. Multiple alternatively spliced variants
            encoding different isoforms have been described. [provided by
            RefSeq, Jan 2009].
            Transcript Variant: This variant (1) encodes the full-length
            isoform (1). Variants 1, 4-7, 9-12, and 15-20 encode the same
            isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3748
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..3748
                     /gene="FGF1"
                     /gene_synonym="AFGF; ECGF; ECGF-beta; ECGFA; ECGFB; FGF-1;
                     FGF-alpha; FGFA; GLIO703; HBGF-1; HBGF1"
                     /note="fibroblast growth factor 1"
                     /db_xref="GeneID:2246"
                     /db_xref="HGNC:HGNC:3665"
                     /db_xref="MIM:131220"
     misc_feature    163..165
                     /gene="FGF1"
                     /gene_synonym="AFGF; ECGF; ECGF-beta; ECGFA; ECGFB; FGF-1;
                     FGF-alpha; FGFA; GLIO703; HBGF-1; HBGF1"
                     /note="upstream in-frame stop codon"
     CDS             169..636
                     /gene="FGF1"
                     /gene_synonym="AFGF; ECGF; ECGF-beta; ECGFA; ECGFB; FGF-1;
                     FGF-alpha; FGFA; GLIO703; HBGF-1; HBGF1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; endothelial cell growth factor, alpha; endothelial cell
                     growth factor, beta; heparin-binding growth factor 1;
                     beta-endothelial cell growth factor; fibroblast growth
                     factor 1 (acidic)"
                     /codon_start=1
                     /product="fibroblast growth factor 1 isoform 1 precursor"
                     /protein_id="NP_000791.1"
                     /db_xref="CCDS:CCDS4275.1"
                     /db_xref="GeneID:2246"
                     /db_xref="HGNC:HGNC:3665"
                     /db_xref="MIM:131220"
                     /translation="MAEGEITTFTALTEKFNLPPGNYKKPKLLYCSNGGHFLRILPDGT
                     VDGTRDRSDQHIQLQLSAESVGEVYIKSTETGQYLAMDTDGLLYGSQTPNEECLFLERL
                     EENHYNTYISKKHAEKNWFVGLKKNGSCKRGPRTHYGQKAILFLPLPVSSD"
     misc_feature    172..174
                     /gene="FGF1"
                     /gene_synonym="AFGF; ECGF; ECGF-beta; ECGFA; ECGFB; FGF-1;
                     FGF-alpha; FGFA; GLIO703; HBGF-1; HBGF1"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000250|UniProtKB:P03968; propagated from
                     UniProtKB/Swiss-Prot (P05230.1); acetylation site"
     mat_peptide     214..633
                     /gene="FGF1"
                     /gene_synonym="AFGF; ECGF; ECGF-beta; ECGFA; ECGFB; FGF-1;
                     FGF-alpha; FGFA; GLIO703; HBGF-1; HBGF1"
                     /product="Fibroblast growth factor 1. /id=PRO_0000008908"
                     /note="propagated from UniProtKB/Swiss-Prot (P05230.1)"
     misc_feature    238..249
                     /gene="FGF1"
                     /gene_synonym="AFGF; ECGF; ECGF-beta; ECGFA; ECGFB; FGF-1;
                     FGF-alpha; FGFA; GLIO703; HBGF-1; HBGF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P05230.1);
                     Region: Nuclear localization signal"
     misc_feature    547..597
                     /gene="FGF1"
                     /gene_synonym="AFGF; ECGF; ECGF-beta; ECGFA; ECGFB; FGF-1;
                     FGF-alpha; FGFA; GLIO703; HBGF-1; HBGF1"
                     /note="propagated from UniProtKB/Swiss-Prot (P05230.1);
                     Region: Heparin-binding"
     regulatory      3725..3730
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGF1"
                     /gene_synonym="AFGF; ECGF; ECGF-beta; ECGFA; ECGFB; FGF-1;
                     FGF-alpha; FGFA; GLIO703; HBGF-1; HBGF1"
                     /note="hexamer: AATAAA"
     polyA_site      3748
                     /gene="FGF1"
                     /gene_synonym="AFGF; ECGF; ECGF-beta; ECGFA; ECGFB; FGF-1;
                     FGF-alpha; FGFA; GLIO703; HBGF-1; HBGF1"
                     /note="major polyA site"
ORIGIN
        1 agagctgcag tagcctggag gttcagagag ccgggctact ctgagaagaa gacaccaagt
       61 ggattctgct tcccctggga cagcactgag cgagtgtgga gagaggtaca gccctcggcc
      121 tacaagctct ttagtcttga aagcgccaca agcagcagct gctgagccat ggctgaaggg
      181 gaaatcacca ccttcacagc cctgaccgag aagtttaatc tgcctccagg gaattacaag
      241 aagcccaaac tcctctactg tagcaacggg ggccacttcc tgaggatcct tccggatggc
      301 acagtggatg ggacaaggga caggagcgac cagcacattc agctgcagct cagtgcggaa
      361 agcgtggggg aggtgtatat aaagagtacc gagactggcc agtacttggc catggacacc
      421 gacgggcttt tatacggctc acagacacca aatgaggaat gtttgttcct ggaaaggctg
      481 gaggagaacc attacaacac ctatatatcc aagaagcatg cagagaagaa ttggtttgtt
      541 ggcctcaaga agaatgggag ctgcaaacgc ggtcctcgga ctcactatgg ccagaaagca
      601 atcttgtttc tccccctgcc agtctcttct gattaaagag atctgttctg ggtgttgacc
      661 actccagaga agtttcgagg ggtcctcacc tggttgaccc aaaaatgttc ccttgaccat
      721 tggctgcgct aacccccagc ccacagagcc tgaatttgta agcaacttgc ttctaaatgc
      781 ccagttcact tctttgcaga gccttttacc cctgcacagt ttagaacaga gggaccaaat
      841 tgcttctagg agtcaactgg ctggccagtc tgggtctggg tttggatctc caattgcctc
      901 ttgcaggctg agtccctcca tgcaaaagtg gggctaaatg aagtgtgtta aggggtcggc
      961 taagtgggac attagtaact gcacactatt tccctctact gagtaaaccc tatctgtgat
     1021 tcccccaaac atctggcatg gctccctttt gtccttcctg tgccctgcaa atattagcaa
     1081 agaagcttca tgccaggtta ggaaggcagc attccatgac cagaaacagg gacaaagaaa
     1141 tccccccttc agaacagagg catttaaaat ggaaaagaga gattggattt tggtgggtaa
     1201 cttagaagga tggcatctcc atgtagaata aatgaagaaa gggaggccca gccgcaggaa
     1261 ggcagaataa atccttggga gtcattacca cgccttgacc ttcccaaggt tactcagcag
     1321 cagagagccc tgggtgactt caggtggaga gcactagaag tggtttcctg ataacaagca
     1381 aggatatcag agctgggaaa ttcatgtgga tctggggact gagtgtggga gtgcagagaa
     1441 agaaagggaa actggctgag gggataccat aaaaagagga tgatttcaga aggagaagga
     1501 aaaagaaagt aatgccacac attgtgcttg gcccctggta agcagaggct ttggggtcct
     1561 agcccagtgc ttctccaaca ctgaagtgct tgcagatcat ctggggacct ggtttgaatg
     1621 gagattctga ttcagtgggt tgggggcaga gtttctgcag ttccatcagg tcccccccag
     1681 gtgcaggtgc tgacaatact gctgccttac ccgccataca ttaaggagca gggtcctggt
     1741 cctaaagagt tattcaaatg aaggtggttc gacgccccga acctcacctg acctcaacta
     1801 acccttaaaa atgcacacct catgagtcta cctgagcatt caggcagcac tgacaatagt
     1861 tatgcctgta ctaaggagca tgattttaag aggctttggc ccaatgccta taaaatgccc
     1921 atttcgaaga tatacaaaaa catacttcaa aaatgttaaa cccttaccaa cagcttttcc
     1981 caggagacca tttgtattac cattacttgt ataaatacac ttcctgctta aacttgaccc
     2041 aggtggctag caaattagaa acaccattca tctctaacat atgatactga tgccatgtaa
     2101 aggcctttaa taagtcattg aaatttactg tgagactgta tgttttaatt gcatttaaaa
     2161 atatatagct tgaaagcagt taaactgatt agtattcagg cactgagaat gatagtaata
     2221 ggatacaatg tataagctac tcacttatct gatacttatt tacctataaa atgagatttt
     2281 tgttttccac tgtgctatta caaattttct tttgaaagta ggaactctta agcaatggta
     2341 attgtgaata aaaattgatg agagtgttag ctcctgtttc atatgaaatt gaagtaattg
     2401 ttaactaaaa acaattcctt agtaactgaa ctgtcatatt tagaatggaa ggaaaatgac
     2461 agtttgtgaa agttcaaagc aatagtgcaa ttgaagaatt gacctaagta agctgacatt
     2521 atggttaata atagtatttt agatttgtgc agcaaaataa tttcataact tttttgtttt
     2581 tgttacttgg ataagatcaa tctgttttat tttagtaaat ctttgcaggc aagttagaga
     2641 aaatgcagtg tggcttaacg tctctttagt atgaagattt ggccagaaaa agatacccag
     2701 agaggaaatc taagataatt ataatggtcc atacttttta ttgtatgaat caaactcaag
     2761 cataacattg gccaaggaaa attaaatacc attgctaact tgtgaaatgg aagtctgtga
     2821 tttcggagat gcaaagcatt gtagtaaaaa caccaatgtg acctcgacca tctcagccca
     2881 gatatcattc atatatctgt tcaatgacta ttaaggtgcc tactgtgtgc taggcactgt
     2941 actggatact ggggaccttg tctgtctggt ttgctgctgt atcttctccc agggcattat
     3001 atttatgatg aaagatgctg tggattcaat tctttcagtc aagaataaac acagactttg
     3061 taggttcctg ctgaataaag caaatcccag aaacccagat tttggaagaa tcagcaaccc
     3121 cagcataaaa taaaccccta tcaaaatgtc agaggacatg gcaaggtaaa cttagcattt
     3181 tcaactttag aaccgggtca gcttcagggg gactgctttc aaatcagcca aagagcctgt
     3241 cagatcttct tagaaggaag aggttggtag ttccctgctc tgttttgaac atgctctagt
     3301 ttattaacct ggggacattc ccattgctgt cttaagtaag tctcatagcc agctcctgtc
     3361 acgtgactct catatggatt cattttcggg ccagctctga acaaagcatc atgaacatat
     3421 gtgcttttgg tcgtttgcaa tgtgatggtg gtggaggtag gtattggttt ccttggaagg
     3481 catgataaga aagattcaca atggccaaca gtgtgtatga acaaaaaact gattggagca
     3541 tcagctagta ctgaaggtcc ttgctttgtg tcagaggcaa aggaacccaa ggcgccaagt
     3601 cctcagcctt gagtgtactg ctgacaacta aactcacagg ctgcaaagca gacctctgat
     3661 gaagatgcct gttatttcac atcactgtct ttttgtgtat catagtctgc accttacaaa
     3721 tattaataaa tgttccaata ataggtga
//
LOCUS       NM_000801               1514 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens FKBP prolyl isomerase 1A (FKBP1A), transcript variant
            1, mRNA.
ACCESSION   NM_000801
VERSION     NM_000801.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1514)
  AUTHORS   Yang X and Sun P.
  TITLE     Circ_0088212 Targeting miR-576-5p/FKBP1A Axis Inhibits Osteosarcoma
            Progression
  JOURNAL   Ann Clin Lab Sci 53 (4), 548-561 (2023)
   PUBMED   37625838
  REMARK    GeneRIF: Circ_0088212 Targeting miR-576-5p/FKBP1A Axis Inhibits
            Osteosarcoma Progression.
REFERENCE   2  (bases 1 to 1514)
  AUTHORS   Cai S, Chen Z, Tang H, Meng S, Tao L and Wang Q.
  TITLE     Upregulated FKBP1A Suppresses Glioblastoma Cell Growth via Apoptosis
            Pathway
  JOURNAL   Int J Mol Sci 23 (23), 14935 (2022)
   PUBMED   36499275
  REMARK    GeneRIF: Upregulated FKBP1A Suppresses Glioblastoma Cell Growth via
            Apoptosis Pathway. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1514)
  AUTHORS   Li Z, Cui Y, Duan Q, Zhang J, Shao D, Cao X, Gao Y, Wang S, Li J,
            Jones OD, Lei X, Wang L, Zhou X, Xu M, Ma J, Liu Y and Xu X.
  TITLE     The Prognostic Significance of FKBP1A and Its Related Immune
            Infiltration in Liver Hepatocellular Carcinoma
  JOURNAL   Int J Mol Sci 23 (21), 12797 (2022)
   PUBMED   36361587
  REMARK    GeneRIF: The Prognostic Significance of FKBP1A and Its Related
            Immune Infiltration in Liver Hepatocellular Carcinoma. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 1514)
  AUTHORS   Patel D, Dabhi AM, Dmello C, Seervi M, Sneha KM, Agrawal P, Sahani
            MH and Kanojia D.
  TITLE     FKBP1A upregulation correlates with poor prognosis and increased
            metastatic potential of HNSCC
  JOURNAL   Cell Biol Int 46 (3), 443-453 (2022)
   PUBMED   34882900
  REMARK    GeneRIF: FKBP1A upregulation correlates with poor prognosis and
            increased metastatic potential of HNSCC.
REFERENCE   5  (bases 1 to 1514)
  AUTHORS   Mao S, Zhang D, Chen L, Tan J, Chu Y, Huang S, Zhou W, Qin H, Xia Q,
            Zhao Y, Li R, Qin S and Wei M.
  TITLE     FKBP51 promotes invasion and migration by increasing the autophagic
            degradation of TIMP3 in clear cell renal cell carcinoma
  JOURNAL   Cell Death Dis 12 (10), 899 (2021)
   PUBMED   34599146
  REMARK    GeneRIF: FKBP51 promotes invasion and migration by increasing the
            autophagic degradation of TIMP3 in clear cell renal cell carcinoma.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1514)
  AUTHORS   DiLella AG, Hawkins A, Craig RJ, Schreiber SL and Griffin CA.
  TITLE     Chromosomal band assignments of the genes encoding human FKBP12 and
            FKBP13
  JOURNAL   Biochem Biophys Res Commun 189 (2), 819-823 (1992)
   PUBMED   1281998
REFERENCE   7  (bases 1 to 1514)
  AUTHORS   Jayaraman T, Brillantes AM, Timerman AP, Fleischer S,
            Erdjument-Bromage H, Tempst P and Marks AR.
  TITLE     FK506 binding protein associated with the calcium release channel
            (ryanodine receptor)
  JOURNAL   J Biol Chem 267 (14), 9474-9477 (1992)
   PUBMED   1374404
REFERENCE   8  (bases 1 to 1514)
  AUTHORS   Lepre CA, Thomson JA and Moore JM.
  TITLE     Solution structure of FK506 bound to FKBP-12
  JOURNAL   FEBS Lett 302 (1), 89-96 (1992)
   PUBMED   1375171
REFERENCE   9  (bases 1 to 1514)
  AUTHORS   Standaert RF, Galat A, Verdine GL and Schreiber SL.
  TITLE     Molecular cloning and overexpression of the human FK506-binding
            protein FKBP
  JOURNAL   Nature 346 (6285), 671-674 (1990)
   PUBMED   1696686
REFERENCE   10  (bases 1 to 1514)
  AUTHORS   Maki N, Sekiguchi F, Nishimaki J, Miwa K, Hayano T, Takahashi N and
            Suzuki M.
  TITLE     Complementary DNA encoding the human T-cell FK506-binding protein, a
            peptidylprolyl cis-trans isomerase distinct from cyclophilin
  JOURNAL   Proc Natl Acad Sci U S A 87 (14), 5440-5443 (1990)
   PUBMED   1695378
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.163989.1,
            SRR3476690.532936.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000400137.9/ ENSP00000383003.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC119732.1, AL136531.16 and
            CA450516.1.
            On Dec 7, 2018 this sequence version replaced NM_000801.4.
            Summary: The protein encoded by this gene is a member of the
            immunophilin protein family, which play a role in immunoregulation
            and basic cellular processes involving protein folding and
            trafficking. The protein is a cis-trans prolyl isomerase that binds
            the immunosuppressants FK506 and rapamycin. It interacts with
            several intracellular signal transduction proteins including type I
            TGF-beta receptor. It also interacts with multiple intracellular
            calcium release channels, and coordinates multi-protein complex
            formation of the tetrameric skeletal muscle ryanodine receptor. In
            mouse, deletion of this homologous gene causes congenital heart
            disorder known as noncompaction of left ventricular myocardium.
            Multiple alternatively spliced variants, encoding the same protein,
            have been identified. The human genome contains five pseudogenes
            related to this gene, at least one of which is transcribed.
            [provided by RefSeq, Sep 2008].
            Transcript Variant: This variant (1, also known as 12B) represents
            the longest transcript and encodes the longer isoform (a). Both
            variants 1 and 2 encode the same isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1514
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..1514
                     /gene="FKBP1A"
                     /gene_synonym="FKBP-12; FKBP-1A; FKBP1; FKBP12; PKC12;
                     PKCI2; PPIASE"
                     /note="FKBP prolyl isomerase 1A"
                     /db_xref="GeneID:2280"
                     /db_xref="HGNC:HGNC:3711"
                     /db_xref="MIM:186945"
     CDS             57..383
                     /gene="FKBP1A"
                     /gene_synonym="FKBP-12; FKBP-1A; FKBP1; FKBP12; PKC12;
                     PKCI2; PPIASE"
                     /EC_number="5.2.1.8"
                     /note="isoform a is encoded by transcript variant 1;
                     calstabin-1; FK506-binding protein, T-cell, 12-kD; protein
                     kinase C inhibitor 2; rotamase; immunophilin FKBP12;
                     FK506-binding protein 1; peptidyl-prolyl cis-trans
                     isomerase FKBP1A; FKBP12-Exip3; FK506 binding protein12;
                     FK506-binding protein 12; 12 kDa FKBP; PPIase FKBP1A; 12
                     kDa FK506-binding protein; FK506 binding protein 1A, 12kDa;
                     FK506-binding protein 1A"
                     /codon_start=1
                     /product="peptidyl-prolyl cis-trans isomerase FKBP1A
                     isoform a"
                     /protein_id="NP_000792.1"
                     /db_xref="CCDS:CCDS13014.1"
                     /db_xref="GeneID:2280"
                     /db_xref="HGNC:HGNC:3711"
                     /db_xref="MIM:186945"
                     /translation="MGVQVETISPGDGRTFPKRGQTCVVHYTGMLEDGKKFDSSRDRNK
                     PFKFMLGKQEVIRGWEEGVAQMSVGQRAKLTISPDYAYGATGHPGIIPPHATLVFDVEL
                     LKLE"
     misc_feature    213..215
                     /gene="FKBP1A"
                     /gene_synonym="FKBP-12; FKBP-1A; FKBP1; FKBP12; PKC12;
                     PKCI2; PPIASE"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P26883; propagated from
                     UniProtKB/Swiss-Prot (P62942.2); acetylation site"
     regulatory      1485..1490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FKBP1A"
                     /gene_synonym="FKBP-12; FKBP-1A; FKBP1; FKBP12; PKC12;
                     PKCI2; PPIASE"
                     /note="hexamer: AATAAA"
     polyA_site      1514
                     /gene="FKBP1A"
                     /gene_synonym="FKBP-12; FKBP-1A; FKBP1; FKBP12; PKC12;
                     PKCI2; PPIASE"
                     /note="major polyA site"
ORIGIN
        1 gctgttggtc cacgccgccc gtcgcgccgc ccgcccgctc agcgtccgcc gccgccatgg
       61 gagtgcaggt ggaaaccatc tccccaggag acgggcgcac cttccccaag cgcggccaga
      121 cctgcgtggt gcactacacc gggatgcttg aagatggaaa gaaatttgat tcctcccggg
      181 acagaaacaa gccctttaag tttatgctag gcaagcagga ggtgatccga ggctgggaag
      241 aaggggttgc ccagatgagt gtgggtcaga gagccaaact gactatatct ccagattatg
      301 cctatggtgc cactgggcac ccaggcatca tcccaccaca tgccactctc gtcttcgatg
      361 tggagcttct aaaactggaa tgacaggaat ggcctcctcc cttagctccc tgttcttgga
      421 tctgccatgg agggatctgg tgcctccaga catgtgcaca tgaatccata tggagctttt
      481 cctgatgttc cactccactt tgtatagaca tctgccctga ctgaatgtgt tctgtcactc
      541 agctttgctt ccgacacctc tgtttcctct tcccctttct cctcgtatgt gtgtttacct
      601 aaactatatg ccataaacct caagttattc attttatttt gttttcattt tggggtgaag
      661 attcagtttc agtcttttgg atataggttt ccaattaagt acatggtcaa gtattaacag
      721 cacaagtggt aggttaacat tagaatagga attggtgttg gggggggggt ttgcaagaat
      781 attttatttt aattttttgg atgaaatttt tatctattat atattaaaca ttcttgctgc
      841 tgcgctgcaa agccatagca gatttgaggc gctgttgagg actgaattac tctccaagtt
      901 gagagatgtc tttgggttaa attaaaagcc ctacctaaaa ctgaggtggg gatggggaga
      961 gcctttgcct ccaccattcc cacccaccct ccccttaaac cctctgcctt tgaaagtaga
     1021 tcatgttcac tgcaatgctg gacactacag gtatctgtcc ctgggccagc agggacctct
     1081 gaagccttct ttgtggcctt tttttttttt catcctgtgg tttttctaat ggactttcag
     1141 gaattttgta atctcataac tttccaagct ccaccacttc ctaaatctta agaactttaa
     1201 ttgacagttt caattgaagg tgctgtttgt agacttaaca cccagtgaaa gcccagccat
     1261 catgacaaat ccttgaatgt tctcttaaga aaatgatgct ggtcatcgca gcttcagcat
     1321 ctcctgtttt ttgatgcttg gctccctctg ctgatctcag tttcctggct tttcctccct
     1381 cagccccttc tcaccccttt gctgtcctgt gtagtgattt ggtgagaaat cgttgctgca
     1441 cccttccccc agcaccattt atgagtctca agttttatta ttgcaataaa agtgctttat
     1501 gccggctttt ctca
//
LOCUS       NM_000803               1112 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens folate receptor beta (FOLR2), transcript variant 1,
            mRNA.
ACCESSION   NM_000803
VERSION     NM_000803.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1112)
  AUTHORS   .
  TITLE     FOLR2+ Macrophages Are Associated with T-cell Infiltration and
            Improved Prognosis
  JOURNAL   Cancer Discov 12 (6), 1407 (2022)
   PUBMED   35394484
  REMARK    GeneRIF: FOLR2+ Macrophages Are Associated with T-cell Infiltration
            and Improved Prognosis.
REFERENCE   2  (bases 1 to 1112)
  AUTHORS   Steinz MM, Ezdoglian A, Khodadust F, Molthoff CFM, Srinivasarao M,
            Low PS, Zwezerijnen GJC, Yaqub M, Beaino W, Windhorst AD, Tas SW,
            Jansen G and van der Laken CJ.
  TITLE     Folate Receptor Beta for Macrophage Imaging in Rheumatoid Arthritis
  JOURNAL   Front Immunol 13, 819163 (2022)
   PUBMED   35185910
  REMARK    GeneRIF: Folate Receptor Beta for Macrophage Imaging in Rheumatoid
            Arthritis. Review article Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1112)
  AUTHORS   Song X, Huang P, Wang T, Zhang S, Chen L and Qin J.
  TITLE     Association of periconceptional folate supplements and FOLR1 and
            FOLR2 gene polymorphisms with risk of congenital heart disease in
            offspring: A hospital-based case-control study
  JOURNAL   Zhong Nan Da Xue Xue Bao Yi Xue Ban 47 (1), 52-62 (2022)
   PUBMED   35545363
  REMARK    GeneRIF: Association of periconceptional folate supplements and
            FOLR1 and FOLR2 gene polymorphisms with risk of congenital heart
            disease in offspring: A hospital-based case-control study.', trans
            'FOLR1FOLR2.
REFERENCE   4  (bases 1 to 1112)
  AUTHORS   Warmink K, Siebelt M, Low PS, Riemers FM, Wang B, Plomp SGM,
            Tryfonidou MA, van Weeren PR, Weinans H and Korthagen NM.
  TITLE     Folate Receptor Expression by Human Monocyte-Derived Macrophage
            Subtypes and Effects of Corticosteroids
  JOURNAL   Cartilage 13 (1), 19476035221081469 (2022)
   PUBMED   35255727
  REMARK    GeneRIF: Folate Receptor Expression by Human Monocyte-Derived
            Macrophage Subtypes and Effects of Corticosteroids.
REFERENCE   5  (bases 1 to 1112)
  AUTHORS   Lu YJ, Wheeler LW 2nd, Chu H, Kleindl PJ, Pugh M, You F, Rao S,
            Garcia G, Wu HY, da Cunha AP, Johnson R, Westrick E, Cross V, Lloyd
            A, Dircksen C, Klein PJ, Vlahov IR, Low PS and Leamon CP.
  TITLE     Targeting folate receptor beta on monocytes/macrophages renders
            rapid inflammation resolution independent of root causes
  JOURNAL   Cell Rep Med 2 (10), 100422 (2021)
   PUBMED   34755134
  REMARK    GeneRIF: Targeting folate receptor beta on monocytes/macrophages
            renders rapid inflammation resolution independent of root causes.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1112)
  AUTHORS   Ragoussis J, Senger G, Trowsdale J and Campbell IG.
  TITLE     Genomic organization of the human folate receptor genes on
            chromosome 11q13
  JOURNAL   Genomics 14 (2), 423-430 (1992)
   PUBMED   1330883
REFERENCE   7  (bases 1 to 1112)
  AUTHORS   Henderson GB.
  TITLE     Folate-binding proteins
  JOURNAL   Annu Rev Nutr 10, 319-335 (1990)
   PUBMED   2166548
  REMARK    Review article
REFERENCE   8  (bases 1 to 1112)
  AUTHORS   Ratnam M, Marquardt H, Duhring JL and Freisheim JH.
  TITLE     Homologous membrane folate binding proteins in human placenta:
            cloning and sequence of a cDNA
  JOURNAL   Biochemistry 28 (20), 8249-8254 (1989)
   PUBMED   2605182
REFERENCE   9  (bases 1 to 1112)
  AUTHORS   Freisheim JH, Price EM and Ratnam M.
  TITLE     Folate coenzyme and antifolate transport proteins in normal and
            neoplastic cells
  JOURNAL   Adv Enzyme Regul 29, 13-26 (1989)
   PUBMED   2561247
REFERENCE   10  (bases 1 to 1112)
  AUTHORS   Antony,A.C., Kane,M.A., Portillo,R.M., Elwood,P.C. and Kolhouse,J.F.
  TITLE     Studies of the role of a particulate folate-binding protein in the
            uptake of 5-methyltetrahydrofolate by cultured human KB cells
  JOURNAL   J Biol Chem 260 (28), 14911-14917 (1985)
   PUBMED   4066659
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.74568.1,
            SRR5189655.16057.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: downstream AUG is associated
            with N-terminal localization signal
            MANE Ensembl match :: ENST00000298223.11/ ENSP00000298223.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK222643.1 and CD014063.1.
            On Nov 22, 2018 this sequence version replaced NM_000803.4.
            Summary: The protein encoded by this gene is a member of the folate
            receptor (FOLR) family, and these genes exist in a cluster on
            chromosome 11. Members of this gene family have a high affinity for
            folic acid and for several reduced folic acid derivatives, and they
            mediate delivery of 5-methyltetrahydrofolate to the interior of
            cells. This protein has a 68% and 79% sequence homology with the
            FOLR1 and FOLR3 proteins, respectively. Although this protein was
            originally thought to be specific to placenta, it can also exist in
            other tissues, and it may play a role in the transport of
            methotrexate in synovial macrophages in rheumatoid arthritis
            patients. Multiple transcript variants that encode the same protein
            have been found for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript. All variants (1-4) encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1112
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..1112
                     /gene="FOLR2"
                     /gene_synonym="BETA-HFR; FBP; FBP/PL-1; FOLR1; FR-BETA;
                     FR-P3; FRbeta"
                     /note="folate receptor beta"
                     /db_xref="GeneID:2350"
                     /db_xref="HGNC:HGNC:3793"
                     /db_xref="MIM:136425"
     misc_feature    106..108
                     /gene="FOLR2"
                     /gene_synonym="BETA-HFR; FBP; FBP/PL-1; FOLR1; FR-BETA;
                     FR-P3; FRbeta"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MLPAATEVQLRLQGQKD"
     CDS             157..924
                     /gene="FOLR2"
                     /gene_synonym="BETA-HFR; FBP; FBP/PL-1; FOLR1; FR-BETA;
                     FR-P3; FRbeta"
                     /note="folate-binding protein, fetal/placental; folate
                     receptor 2 (fetal); folate receptor, fetal/placental;
                     placental folate-binding protein; folate receptor alpha"
                     /codon_start=1
                     /product="folate receptor beta precursor"
                     /protein_id="NP_000794.3"
                     /db_xref="CCDS:CCDS8212.1"
                     /db_xref="GeneID:2350"
                     /db_xref="HGNC:HGNC:3793"
                     /db_xref="MIM:136425"
                     /translation="MVWKWMPLLLLLVCVATMCSAQDRTDLLNVCMDAKHHKTKPGPED
                     KLHDQCSPWKKNACCTASTSQELHKDTSRLYNFNWDHCGKMEPACKRHFIQDTCLYECS
                     PNLGPWIQQVNQSWRKERFLDVPLCKEDCQRWWEDCHTSHTCKSNWHRGWDWTSGVNKC
                     PAGALCRTFESYFPTPAALCEGLWSHSYKVSNYSRGSGRCIQMWFDSAQGNPNEEVARF
                     YAAAMHVNAGEMLHGTGGLLLSLALMLQLWLLG"
     sig_peptide     157..219
                     /gene="FOLR2"
                     /gene_synonym="BETA-HFR; FBP; FBP/PL-1; FOLR1; FR-BETA;
                     FR-P3; FRbeta"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    499..501
                     /gene="FOLR2"
                     /gene_synonym="BETA-HFR; FBP; FBP/PL-1; FOLR1; FR-BETA;
                     FR-P3; FRbeta"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:23934049,
                     ECO:0007744|PDB:4KN0; propagated from UniProtKB/Swiss-Prot
                     (P14207.4); glycosylation site"
     misc_feature    739..741
                     /gene="FOLR2"
                     /gene_synonym="BETA-HFR; FBP; FBP/PL-1; FOLR1; FR-BETA;
                     FR-P3; FRbeta"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:23934049,
                     ECO:0007744|PDB:4KMZ, ECO:0007744|PDB:4KN0,
                     ECO:0007744|PDB:4KN1, ECO:0007744|PDB:4KN2; propagated from
                     UniProtKB/Swiss-Prot (P14207.4); glycosylation site"
     regulatory      1084..1089
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOLR2"
                     /gene_synonym="BETA-HFR; FBP; FBP/PL-1; FOLR1; FR-BETA;
                     FR-P3; FRbeta"
                     /note="hexamer: AATAAA"
     polyA_site      1112
                     /gene="FOLR2"
                     /gene_synonym="BETA-HFR; FBP; FBP/PL-1; FOLR1; FR-BETA;
                     FR-P3; FRbeta"
                     /note="major polyA site"
ORIGIN
        1 agagcgcgtt gtctaccctg taccgaagac agaggctgtg gggacagcct aggggcctgg
       61 atctattgcc tacttagaga gaggccaact cagacacagc cgtgtatgct cccagcagca
      121 acggaggttc agctccgcct gcagggacag aaagacatgg tctggaaatg gatgccactt
      181 ctgctgcttc tggtctgtgt agccaccatg tgcagtgccc aggacaggac tgatctcctc
      241 aatgtctgta tggatgccaa gcaccacaag acaaagccag gtcctgagga caagctgcat
      301 gaccaatgca gtccctggaa gaagaatgcc tgctgcacag ccagcaccag ccaggagctg
      361 cacaaggaca cctcccgcct gtacaacttt aactgggacc actgcggcaa gatggagccc
      421 gcctgcaagc gccacttcat ccaggacacc tgtctctatg agtgctcacc caacctgggg
      481 ccctggatcc agcaggtgaa tcagagctgg cgcaaagaac gcttcctgga tgtgccctta
      541 tgcaaagagg actgtcagcg ctggtgggag gattgtcaca cctcccacac gtgcaagagc
      601 aactggcaca gaggatggga ctggacctca ggagttaaca agtgcccagc tggggctctc
      661 tgccgcacct ttgagtccta cttccccact ccagctgccc tttgtgaagg cctctggagt
      721 cactcataca aggtcagcaa ctacagccga gggagcggcc gctgcatcca gatgtggttt
      781 gattcagccc agggcaaccc caacgaggaa gtggcgaggt tctatgctgc agccatgcat
      841 gtgaatgctg gtgagatgct tcatgggact gggggtctcc tgctcagtct ggccctgatg
      901 ctgcaactct ggctccttgg ctgagttcag tcctcccaga ctacctgccc tcagcttgga
      961 taaccaggct gggctcagct cagctcccac aaatgacagc cccttaagca tgcttctatt
     1021 agtcacctaa ccctctgtca cccagtctgt tgctgctcca tggtggggcc aagagtcact
     1081 tctaataaac agactgtttt ctaataattc ca
//
LOCUS       NM_000804                849 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens folate receptor gamma (FOLR3), transcript variant 1,
            coding, mRNA.
ACCESSION   NM_000804
VERSION     NM_000804.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 849)
  AUTHORS   Lu RJ, Shirvani P and Holick MF.
  TITLE     A Novel Immunomodulatory Mechanism by Which Vitamin D Influences
            Folate Receptor 3 Expression to Reduce COVID-19 Severity
  JOURNAL   Anticancer Res 42 (10), 5043-5048 (2022)
   PUBMED   36192006
  REMARK    GeneRIF: A Novel Immunomodulatory Mechanism by Which Vitamin D
            Influences Folate Receptor 3 Expression to Reduce COVID-19 Severity.
            Review article
REFERENCE   2  (bases 1 to 849)
  AUTHORS   Shen N, Liu T, Liu W, Zhong Z, Li Q, Zhu X, Zou P, You Y, Guo AY and
            Zhu X.
  TITLE     A folate receptor 3 SNP promotes mitochondria-induced clonogenicity
            of CML leukemia cells: Implications for treatment free remission
  JOURNAL   Clin Transl Med 11 (2), e317 (2021)
   PUBMED   33634983
  REMARK    GeneRIF: A folate receptor 3 SNP promotes mitochondria-induced
            clonogenicity of CML leukemia cells: Implications for treatment free
            remission.
REFERENCE   3  (bases 1 to 849)
  AUTHORS   Yoshitomi R, Nakayama K, Yamashita S, Kumazoe M, Lin TA, Mei CY,
            Marugame Y, Fujimura Y, Maeda-Yamamoto M, Kuriyama S and Tachibana
            H.
  TITLE     Plasma Homocysteine Concentration is Associated with the Expression
            Level of Folate Receptor 3
  JOURNAL   Sci Rep 10 (1), 10283 (2020)
   PUBMED   32581311
  REMARK    GeneRIF: Plasma Homocysteine Concentration is Associated with the
            Expression Level of Folate Receptor 3. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 849)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 849)
  AUTHORS   Findley TO, Tenpenny JC, O'Byrne MR, Morrison AC, Hixson JE,
            Northrup H and Au KS.
  TITLE     Mutations in folate transporter genes and risk for human
            myelomeningocele
  JOURNAL   Am J Med Genet A 173 (11), 2973-2984 (2017)
   PUBMED   28948692
  REMARK    GeneRIF: We identified eight novel variants in SLC19A1 and twelve
            novel variants in FOLR1, FOLR2, and FOLR3. Pathogenic variants
            include c.1265delG in SLC19A1 resulting in an early stop codon, four
            large insertion deletion variants in FOLR3, and a stop_gain variant
            in FOLR3
REFERENCE   6  (bases 1 to 849)
  AUTHORS   Boyles AL, Wilcox AJ, Taylor JA, Shi M, Weinberg CR, Meyer K,
            Fredriksen A, Ueland PM, Johansen AM, Drevon CA, Jugessur A, Trung
            TN, Gjessing HK, Vollset SE, Murray JC, Christensen K and Lie RT.
  TITLE     Oral facial clefts and gene polymorphisms in metabolism of
            folate/one-carbon and vitamin A: a pathway-wide association study
  JOURNAL   Genet Epidemiol 33 (3), 247-255 (2009)
   PUBMED   19048631
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   7  (bases 1 to 849)
  AUTHORS   Hillman RT, Green RE and Brenner SE.
  TITLE     An unappreciated role for RNA surveillance
  JOURNAL   Genome Biol 5 (2), R8 (2004)
   PUBMED   14759258
REFERENCE   8  (bases 1 to 849)
  AUTHORS   Wang H, Ross JF and Ratnam M.
  TITLE     Structure and regulation of a polymorphic gene encoding folate
            receptor type gamma/gamma'
  JOURNAL   Nucleic Acids Res 26 (9), 2132-2142 (1998)
   PUBMED   9547271
REFERENCE   9  (bases 1 to 849)
  AUTHORS   Shen F, Wu M, Ross JF, Miller D and Ratnam M.
  TITLE     Folate receptor type gamma is primarily a secretory protein due to
            lack of an efficient signal for glycosylphosphatidylinositol
            modification: protein characterization and cell type specificity
  JOURNAL   Biochemistry 34 (16), 5660-5665 (1995)
   PUBMED   7727426
REFERENCE   10  (bases 1 to 849)
  AUTHORS   Shen F, Ross JF, Wang X and Ratnam M.
  TITLE     Identification of a novel folate receptor, a truncated receptor, and
            receptor type beta in hematopoietic cells: cDNA cloning, expression,
            immunoreactivity, and tissue specificity
  JOURNAL   Biochemistry 33 (5), 1209-1215 (1994)
   PUBMED   8110752
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC126398.1, DN998894.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000611028.3/ ENSP00000481114.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC030285.1, U08471.1 and
            CD368314.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000804.3.
            Summary: This gene encodes a member of the folate receptor (FOLR)
            family of proteins, which have a high affinity for folic acid and
            for several reduced folic acid derivatives, and mediate delivery of
            5-methyltetrahydrofolate to the interior of cells. Expression of
            this gene may be elevated in ovarian and primary peritoneal
            carcinoma. This gene is present in a gene cluster on chromosome 11.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Dec 2015].
            Transcript Variant: This variant (1, coding) represents the allele
            encoded by the GRCh38 reference genome and encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..849
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..849
                     /gene="FOLR3"
                     /gene_synonym="FR-G; FR-gamma; FRgamma; gamma-hFR"
                     /note="folate receptor gamma"
                     /db_xref="GeneID:2352"
                     /db_xref="HGNC:HGNC:3795"
                     /db_xref="MIM:602469"
     misc_feature    48..50
                     /gene="FOLR3"
                     /gene_synonym="FR-G; FR-gamma; FRgamma; gamma-hFR"
                     /note="upstream in-frame stop codon"
     CDS             51..788
                     /gene="FOLR3"
                     /gene_synonym="FR-G; FR-gamma; FRgamma; gamma-hFR"
                     /EC_number="3.1.3.11"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1, coding; folate receptor 3 (gamma)"
                     /codon_start=1
                     /product="folate receptor gamma isoform 1 precursor"
                     /protein_id="NP_000795.2"
                     /db_xref="CCDS:CCDS73344.1"
                     /db_xref="GeneID:2352"
                     /db_xref="HGNC:HGNC:3795"
                     /db_xref="MIM:602469"
                     /translation="MDMAWQMMQLLLLALVTAAGSAQPRSARARTDLLNVCMNAKHHKT
                     QPSPEDELYGQCSPWKKNACCTASTSQELHKDTSRLYNFNWDHCGKMEPTCKRHFIQDS
                     CLYECSPNLGPWIRQVNQSWRKERILNVPLCKEDCERWWEDCRTSYTCKSNWHKGWNWT
                     SGINECPAGALCSTFESYFPTPAALCEGLWSHSFKVSNYSRGSGRCIQMWFDSAQGNPN
                     EEVAKFYAAAMNAGAPSRGIIDS"
     sig_peptide     51..116
                     /gene="FOLR3"
                     /gene_synonym="FR-G; FR-gamma; FRgamma; gamma-hFR"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    411..413
                     /gene="FOLR3"
                     /gene_synonym="FR-G; FR-gamma; FRgamma; gamma-hFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P41439.2); glycosylation site"
     misc_feature    531..533
                     /gene="FOLR3"
                     /gene_synonym="FR-G; FR-gamma; FRgamma; gamma-hFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P41439.2); glycosylation site"
     misc_feature    651..653
                     /gene="FOLR3"
                     /gene_synonym="FR-G; FR-gamma; FRgamma; gamma-hFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P41439.2); glycosylation site"
     regulatory      830..835
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOLR3"
                     /gene_synonym="FR-G; FR-gamma; FRgamma; gamma-hFR"
                     /note="hexamer: AATAGA"
     polyA_site      849
                     /gene="FOLR3"
                     /gene_synonym="FR-G; FR-gamma; FRgamma; gamma-hFR"
                     /note="major polyA site"
ORIGIN
        1 agagcctgga cctacagcgc tgttggtgga ggtcctgcct ccaggaatag atggacatgg
       61 cctggcagat gatgcagctg ctgcttctgg ctttggtgac tgctgcgggg agtgcccagc
      121 ccaggagtgc gcgggccagg acggacctgc tcaatgtctg catgaacgcc aagcaccaca
      181 agacacagcc cagccccgag gacgagctgt atggccagtg cagtccctgg aagaagaatg
      241 cctgctgcac ggccagcacc agccaggagc tgcacaagga cacctcccgc ctgtacaact
      301 ttaactggga tcactgtggt aagatggaac ccacctgcaa gcgccacttt atccaggaca
      361 gctgtctcta tgagtgctca cccaacctgg ggccctggat ccggcaggtc aaccagagct
      421 ggcgcaaaga gcgcattctg aacgtgcccc tgtgcaaaga ggactgtgag cgctggtggg
      481 aggactgtcg cacctcctac acctgcaaaa gcaactggca caaaggctgg aattggacct
      541 cagggattaa tgagtgtccg gccggggccc tctgcagcac ctttgagtcc tacttcccca
      601 ctccagccgc cctttgtgaa ggcctctgga gccactcctt caaggtcagc aactatagtc
      661 gagggagcgg ccgctgcatc cagatgtggt ttgactcagc ccagggcaac cccaatgagg
      721 aggtggccaa gttctatgct gcggccatga atgctggggc cccgtctcgt gggattattg
      781 attcctgatc caagaagggt cctctggggt tcttccaaca acctattcta atagacaaat
      841 ccacatgtg
//
LOCUS       NM_000805                465 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens gastrin (GAST), mRNA.
ACCESSION   NM_000805
VERSION     NM_000805.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 465)
  AUTHORS   Iwanaga T.
  TITLE     Anatomical basis of gastrin- and CCK-secreting cells and their
            functions. A review
  JOURNAL   Biomed Res 44 (3), 81-95 (2023)
   PUBMED   37258205
  REMARK    GeneRIF: Anatomical basis of gastrin- and CCK-secreting cells and
            their functions. A review. Review article
REFERENCE   2  (bases 1 to 465)
  AUTHORS   Hua C and Yu D.
  TITLE     Correlation Study between Levels of Gastrin, Serum IGF-1, and GHBP
            and Growth and Development in Children with Short Stature Based on
            Big Data Analysis
  JOURNAL   Dis Markers 2022, 4614099 (2022)
   PUBMED   36061351
  REMARK    GeneRIF: Correlation Study between Levels of Gastrin, Serum IGF-1,
            and GHBP and Growth and Development in Children with Short Stature
            Based on Big Data Analysis. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 465)
  AUTHORS   Asfuroglu Kalkan E, Kalkan C, Gumussoy M, Gucbey O and Soykan I.
  TITLE     Prevalence and predictors of colonoscopic findings in patients with
            autoimmune gastritis
  JOURNAL   J Investig Med 70 (1), 73-78 (2022)
   PUBMED   34341100
  REMARK    GeneRIF: Prevalence and predictors of colonoscopic findings in
            patients with autoimmune gastritis.
REFERENCE   4  (bases 1 to 465)
  AUTHORS   Galvin SG, Larraufie P, Kay RG, Pitt H, Bernard E, McGavigan AK,
            Brant H, Hood J, Sheldrake L, Conder S, Atherton-Kemp D, Lu VB,
            O'Flaherty EAA, Roberts GP, Ammala C, Jermutus L, Baker D, Gribble
            FM and Reimann F.
  TITLE     Peptidomics of enteroendocrine cells and characterisation of
            potential effects of a novel preprogastrin derived-peptide on
            glucose tolerance in lean mice
  JOURNAL   Peptides 140, 170532 (2021)
   PUBMED   33744371
  REMARK    GeneRIF: Peptidomics of enteroendocrine cells and characterisation
            of potential effects of a novel preprogastrin derived-peptide on
            glucose tolerance in lean mice.
REFERENCE   5  (bases 1 to 465)
  AUTHORS   Ness-Jensen E, Bringeland EA, Mattsson F, Mjones P, Lagergren J,
            Gronbech JE, Waldum HL and Fossmark R.
  TITLE     Hypergastrinemia is associated with an increased risk of gastric
            adenocarcinoma with proximal location: A prospective
            population-based nested case-control study
  JOURNAL   Int J Cancer 148 (8), 1879-1886 (2021)
   PUBMED   33091962
  REMARK    GeneRIF: Hypergastrinemia is associated with an increased risk of
            gastric adenocarcinoma with proximal location: A prospective
            population-based nested case-control study.
REFERENCE   6  (bases 1 to 465)
  AUTHORS   Pauwels S, Najdovski T, Dimaline R, Lee CM and Deschodt-Lanckman M.
  TITLE     Degradation of human gastrin and CCK by endopeptidase 24.11:
            differential behaviour of the sulphated and unsulphated peptides
  JOURNAL   Biochim Biophys Acta 996 (1-2), 82-88 (1989)
   PUBMED   2736261
REFERENCE   7  (bases 1 to 465)
  AUTHORS   Higashimoto Y, Himeno S, Shinomura Y, Nagao K, Tamura T and Tarui S.
  TITLE     Purification and structural determination of urinary NH2-terminal
            big gastrin fragments
  JOURNAL   Biochem Biophys Res Commun 160 (3), 1364-1370 (1989)
   PUBMED   2730647
REFERENCE   8  (bases 1 to 465)
  AUTHORS   Lund,T., Geurts van Kessel,A.H., Haun,S. and Dixon,J.E.
  TITLE     The genes for human gastrin and cholecystokinin are located on
            different chromosomes
  JOURNAL   Hum Genet 73 (1), 77-80 (1986)
   PUBMED   3011648
REFERENCE   9  (bases 1 to 465)
  AUTHORS   Polosatov,M.V., Klimov,P.K., Masevich,C.G., Samartsev,M.A. and
            Wunsch,E.
  TITLE     Interaction of synthetic human big gastrin with blood proteins of
            man and animals
  JOURNAL   Acta Hepatogastroenterol (Stuttg) 26 (2), 154-159 (1979)
   PUBMED   463490
REFERENCE   10  (bases 1 to 465)
  AUTHORS   Fritsch,W.P., Hausamen,T.U. and Scholten,T.
  TITLE     [Gastrointestinal hormones. I. Hormones of the gastrin group]
  JOURNAL   Z Gastroenterol 15 (4), 264-276 (1977)
   PUBMED   871064
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BM768289.1, BM768748.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142586,
            SAMEA2142853 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000329402.4/ ENSP00000331358.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC130686.15 and AC109319.17.
            On Nov 22, 2018 this sequence version replaced NM_000805.4.
            Summary: Gastrin is a hormone whose main function is to stimulate
            secretion of hydrochloric acid by the gastric mucosa, which results
            in gastrin formation inhibition. This hormone also acts as a
            mitogenic factor for gastrointestinal epithelial cells. Gastrin has
            two biologically active peptide forms, G34 and G17. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..465
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..465
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /note="gastrin"
                     /db_xref="GeneID:2520"
                     /db_xref="HGNC:HGNC:4164"
                     /db_xref="MIM:137250"
     CDS             63..368
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /note="preprogastrin"
                     /codon_start=1
                     /product="gastrin preproprotein"
                     /protein_id="NP_000796.1"
                     /db_xref="CCDS:CCDS11404.1"
                     /db_xref="GeneID:2520"
                     /db_xref="HGNC:HGNC:4164"
                     /db_xref="MIM:137250"
                     /translation="MQRLCVYVLIFALALAAFSEASWKPRSQQPDAPLGTGANRDLELP
                     WLEQQGPASHHRRQLGPQGPPHLVADPSKKQGPWLEEEEEAYGWMDFGRRSAEDEN"
     sig_peptide     63..125
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     126..338
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /product="Gastrin-71. /id=PRO_0000010633"
                     /note="propagated from UniProtKB/Swiss-Prot (P01350.1)"
     misc_feature    126..308
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /note="propagated from UniProtKB/Swiss-Prot (P01350.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    180..185
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /note="Cleavage; propagated from UniProtKB/Swiss-Prot
                     (P01350.1); cleavage site"
     mat_peptide     183..338
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /product="Gastrin-52. /id=PRO_0000010634"
                     /note="propagated from UniProtKB/Swiss-Prot (P01350.1)"
     misc_feature    234..239
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /note="Cleavage; propagated from UniProtKB/Swiss-Prot
                     (P01350.1); cleavage site"
     mat_peptide     237..338
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /product="Big gastrin. /id=PRO_0000010635"
                     /note="propagated from UniProtKB/Swiss-Prot (P01350.1)"
     misc_feature    237..239
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /note="Pyrrolidone carboxylic acid, in form big gastrin.
                     /evidence=ECO:0000269|PubMed:2730647; propagated from
                     UniProtKB/Swiss-Prot (P01350.1);
                     pyrrolidone-carboxylic-acid site"
     misc_feature    285..290
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /note="Cleavage; propagated from UniProtKB/Swiss-Prot
                     (P01350.1); cleavage site"
     mat_peptide     288..338
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /product="Gastrin. /id=PRO_0000010636"
                     /note="propagated from UniProtKB/Swiss-Prot (P01350.1)"
     misc_feature    288..290
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /note="Pyrrolidone carboxylic acid, in form gastrin.
                     /evidence=ECO:0000269|PubMed:5921183; propagated from
                     UniProtKB/Swiss-Prot (P01350.1);
                     pyrrolidone-carboxylic-acid site"
     mat_peptide     297..338
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /product="Gastrin-14. /id=PRO_0000010637"
                     /note="propagated from UniProtKB/Swiss-Prot (P01350.1)"
     mat_peptide     321..338
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /product="Gastrin-6. /id=PRO_0000010638"
                     /note="propagated from UniProtKB/Swiss-Prot (P01350.1)"
     misc_feature    321..323
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /note="Sulfotyrosine, partial.
                     /evidence=ECO:0000269|PubMed:11052986,
                     ECO:0000269|PubMed:7530658; propagated from
                     UniProtKB/Swiss-Prot (P01350.1); sulfatation site"
     misc_feature    336..338
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /note="Phenylalanine amide.
                     /evidence=ECO:0000269|PubMed:5921183; propagated from
                     UniProtKB/Swiss-Prot (P01350.1); amidation site"
     misc_feature    345..350
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /note="Cleavage; propagated from UniProtKB/Swiss-Prot
                     (P01350.1); cleavage site"
     misc_feature    348..350
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:3223964;
                     propagated from UniProtKB/Swiss-Prot (P01350.1);
                     phosphorylation site"
     regulatory      445..450
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /note="hexamer: AATAAA"
     polyA_site      465
                     /gene="GAST"
                     /gene_synonym="GAS"
                     /note="major polyA site"
ORIGIN
        1 agagacctga gaggcaccag gcccagccgt ggcaccacac acctcccagc tctgcagacg
       61 agatgcagcg actgtgtgtg tatgtgctga tctttgcact ggctctggcc gccttctctg
      121 aagcttcttg gaagccccgc tcccagcagc cagatgcacc cttaggtaca ggggccaaca
      181 gggacctgga gctaccctgg ctggagcagc agggcccagc ctctcatcat cgaaggcagc
      241 tgggacccca gggtccccca cacctcgtgg cagacccgtc caagaagcag ggaccatggc
      301 tggaggaaga agaagaagcc tatggatgga tggacttcgg ccgccgcagt gctgaggatg
      361 agaactaaca atcctagaac caagcttcag agcctagcca cctcccaccc cactccagcc
      421 ctgtcccctg aaaaactgat caaaaataaa ctagtttcca gtgga
//
LOCUS       NM_000807               8520 bp    mRNA    linear   PRI 29-JAN-2023
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit alpha2
            (GABRA2), transcript variant 1, mRNA.
ACCESSION   NM_000807
VERSION     NM_000807.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8520)
  AUTHORS   Chakraborty A, Dey S, Kumar K, Dixit AB, Tripathi M, Sharma MC,
            Chandra PS and Banerjee J.
  TITLE     Novel variants in GABAA receptor subunits: A possible association
            with benzodiazepine resistance in patients with drug-resistant
            epilepsy
  JOURNAL   Epilepsy Res 189, 107056 (2023)
   PUBMED   36469977
  REMARK    GeneRIF: Novel variants in GABAA receptor subunits: A possible
            association with benzodiazepine resistance in patients with
            drug-resistant epilepsy.
REFERENCE   2  (bases 1 to 8520)
  AUTHORS   Preuss UW, Koller G and Zill P.
  TITLE     Prospective DNA Methylation Analysis of the CpG GABRA2 Receptor
            Subunit in Alcohol Dependence during Detoxification
  JOURNAL   Medicina (Kaunas) 58 (11), 1653 (2022)
   PUBMED   36422192
  REMARK    GeneRIF: Prospective DNA Methylation Analysis of the CpG GABRA2
            Receptor Subunit in Alcohol Dependence during Detoxification.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 8520)
  AUTHORS   Salokas K, Liu X, Ohman T, Chowdhury I, Gawriyski L, Keskitalo S and
            Varjosalo M.
  TITLE     Physical and functional interactome atlas of human receptor tyrosine
            kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   4  (bases 1 to 8520)
  AUTHORS   Hawkins NA, Nomura T, Duarte S, Barse L, Williams RW, Homanics GE,
            Mulligan MK, Contractor A and Kearney JA.
  TITLE     Gabra2 is a genetic modifier of Dravet syndrome in mice
  JOURNAL   Mamm Genome 32 (5), 350-363 (2021)
   PUBMED   34086081
  REMARK    GeneRIF: Gabra2 is a genetic modifier of Dravet syndrome in mice.
REFERENCE   5  (bases 1 to 8520)
  AUTHORS   Yu W, Hill SF, Xenakis JG, Pardo-Manuel de Villena F, Wagnon JL and
            Meisler MH.
  TITLE     Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse
  JOURNAL   Epilepsia 61 (12), 2847-2856 (2020)
   PUBMED   33140451
  REMARK    GeneRIF: Gabra2 is a genetic modifier of Scn8a encephalopathy in the
            mouse.
REFERENCE   6  (bases 1 to 8520)
  AUTHORS   Bonnert TP, McKernan RM, Farrar S, le Bourdelles B, Heavens RP,
            Smith DW, Hewson L, Rigby MR, Sirinathsinghji DJ, Brown N, Wafford
            KA and Whiting PJ.
  TITLE     theta, a novel gamma-aminobutyric acid type A receptor subunit
  JOURNAL   Proc Natl Acad Sci U S A 96 (17), 9891-9896 (1999)
   PUBMED   10449790
REFERENCE   7  (bases 1 to 8520)
  AUTHORS   Russek SJ.
  TITLE     Evolution of GABA(A) receptor diversity in the human genome
  JOURNAL   Gene 227 (2), 213-222 (1999)
   PUBMED   10023064
REFERENCE   8  (bases 1 to 8520)
  AUTHORS   Davies PA, Hanna MC, Hales TG and Kirkness EF.
  TITLE     Insensitivity to anaesthetic agents conferred by a class of GABA(A)
            receptor subunit
  JOURNAL   Nature 385 (6619), 820-823 (1997)
   PUBMED   9039914
REFERENCE   9  (bases 1 to 8520)
  AUTHORS   Togel M, Mossier B, Fuchs K and Sieghart W.
  TITLE     gamma-Aminobutyric acidA receptors displaying association of gamma
            3-subunits with beta 2/3 and different alpha-subunits exhibit unique
            pharmacological properties
  JOURNAL   J Biol Chem 269 (17), 12993-12998 (1994)
   PUBMED   8175718
REFERENCE   10  (bases 1 to 8520)
  AUTHORS   Hadingham KL, Wingrove P, Le Bourdelles B, Palmer KJ, Ragan CI and
            Whiting PJ.
  TITLE     Cloning of cDNA sequences encoding human alpha 2 and alpha 3
            gamma-aminobutyric acidA receptor subunits and characterization of
            the benzodiazepine pharmacology of recombinant alpha 1-, alpha 2-,
            alpha 3-, and alpha 5-containing human gamma-aminobutyric acidA
            receptors
  JOURNAL   Mol Pharmacol 43 (6), 970-975 (1993)
   PUBMED   8391122
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2893033.1,
            SRR14038197.1038810.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381620.9/ ENSP00000371033.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC095060.3, DA778940.1,
            DN991770.1, DB478542.1, AB209295.1, BX108394.1, AC104072.3 and
            AF086092.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000807.3.
            Summary: GABA is the major inhibitory neurotransmitter in the
            mammalian brain where it acts at GABA-A receptors, which are
            ligand-gated chloride channels. Chloride conductance of these
            channels can be modulated by agents such as benzodiazepines that
            bind to the GABA-A receptor. At least 16 distinct subunits of
            GABA-A receptors have been identified. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Nov 2013].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..8520
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p12"
     gene            1..8520
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     alpha2"
                     /db_xref="GeneID:2555"
                     /db_xref="HGNC:HGNC:4076"
                     /db_xref="MIM:137140"
     CDS             405..1760
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /note="isoform a precursor is encoded by transcript variant
                     1; GABA(A) receptor subunit alpha-2; gamma-aminobutyric
                     acid type A receptor alpha2 subunit"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit alpha-2
                     isoform a precursor"
                     /protein_id="NP_000798.2"
                     /db_xref="CCDS:CCDS3471.1"
                     /db_xref="GeneID:2555"
                     /db_xref="HGNC:HGNC:4076"
                     /db_xref="MIM:137140"
                     /translation="MKTKLNIYNMQFLLFVFLVWDPARLVLANIQEDEAKNNITIFTRI
                     LDRLLDGYDNRLRPGLGDSITEVFTNIYVTSFGPVSDTDMEYTIDVFFRQKWKDERLKF
                     KGPMNILRLNNLMASKIWTPDTFFHNGKKSVAHNMTMPNKLLRIQDDGTLLYTMRLTVQ
                     AECPMHLEDFPMDAHSCPLKFGSYAYTTSEVTYIWTYNASDSVQVAPDGSRLNQYDLLG
                     QSIGKETIKSSTGEYTVMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPA
                     RTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKR
                     GWAWDGKSVVNDKKKEKASVMIQNNAYAVAVANYAPNLSKDPVLSTISKSATTPEPNKK
                     PENKPAEAKKTFNSVSKIDRMSRIVFPVLFGTFNLVYWATYLNREPVLGVSP"
     sig_peptide     405..488
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     489..1757
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /product="Gamma-aminobutyric acid receptor subunit alpha-2.
                     /id=PRO_0000000433"
                     /note="propagated from UniProtKB/Swiss-Prot (P47869.2)"
     misc_feature    516..518
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P47869.2); glycosylation site"
     misc_feature    816..818
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P47869.2); glycosylation site"
     misc_feature    1158..1223
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /note="propagated from UniProtKB/Swiss-Prot (P47869.2);
                     transmembrane region"
     misc_feature    1239..1304
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /note="propagated from UniProtKB/Swiss-Prot (P47869.2);
                     transmembrane region"
     misc_feature    1341..1406
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /note="propagated from UniProtKB/Swiss-Prot (P47869.2);
                     transmembrane region"
     misc_feature    1662..1727
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /note="propagated from UniProtKB/Swiss-Prot (P47869.2);
                     transmembrane region"
     regulatory      3593..3598
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /note="hexamer: AATAAA"
     regulatory      3598..3603
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /note="hexamer: AATAAA"
     polyA_site      3615
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /note="major polyA site"
     polyA_site      3620
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /note="major polyA site"
     regulatory      4689..4694
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /note="hexamer: ATTAAA"
     polyA_site      4714
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /note="major polyA site"
     regulatory      8500..8505
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /note="hexamer: ATTAAA"
     polyA_site      8520
                     /gene="GABRA2"
                     /gene_synonym="DEE78; EIEE78"
                     /note="major polyA site"
ORIGIN
        1 aggcgcgggg ctcgtgcccg ccaccgccgg cgcgcaccgc gcctccgccc gcgtcccccc
       61 aatttccccc cccggcccca gctcctgtca tcgttttccc cctcctcctc ttcctcctcc
      121 tcctcttcct cctcctccgc ccatcaccgc cactacgaac gccttcgcct ccttctacac
      181 ctcgcgccgc cgccgcggct cctagcgctc ctctccggct tccaccagcc catcgctcca
      241 cgctctcttg gctgctgcag tctcggtctc tctctctctc tctctctctc tctctctctc
      301 tctctctctc tctctctctc tctctcccaa gtttcctatc tcgtcaagat cagggcaaaa
      361 ggaagaaaac accgaattct gcttgccgtt tcagagcggc ggtgatgaag acaaaattga
      421 acatctacaa catgcagttc ctgctttttg ttttcttggt gtgggaccct gccaggttgg
      481 tgctggctaa catccaagaa gatgaggcta aaaataacat taccatcttt acgagaattc
      541 ttgacagact tctggatggt tacgataatc ggcttagacc aggactggga gacagtatta
      601 ctgaagtctt cactaacatc tacgtgacca gttttggccc tgtctcagat acagatatgg
      661 aatatacaat tgatgttttc tttcgacaaa aatggaaaga tgaacgttta aaatttaaag
      721 gtcctatgaa tatccttcga ctaaacaatt taatggctag caaaatctgg actccagata
      781 ccttttttca caatgggaaa aaatcagtag ctcataatat gacaatgcca aataagttgc
      841 ttcgaattca ggatgatggg actctgctgt ataccatgag gcttacagtt caagctgaat
      901 gcccaatgca cttggaggat ttcccaatgg atgctcattc atgtcctctg aaatttggca
      961 gctatgcata tacaacttca gaggtcactt atatttggac ttacaatgca tctgattcag
     1021 tacaggttgc tcctgatggc tctaggttaa atcaatatga cctgctgggc caatcaatcg
     1081 gaaaggagac aattaaatcc agtacaggtg aatatactgt aatgacagct catttccacc
     1141 tgaaaagaaa aattgggtat tttgtgattc aaacctatct gccttgcatc atgactgtca
     1201 ttctctccca agtttcattc tggcttaaca gagaatctgt gcctgcaaga actgtgtttg
     1261 gagtaacaac tgtcctaaca atgacaactc taagcatcag tgctcggaat tctctcccca
     1321 aagtggctta tgcaactgcc atggactggt ttattgctgt ttgttatgca tttgtgttct
     1381 ctgccctaat tgaatttgca actgttaatt acttcaccaa aagaggatgg gcttgggatg
     1441 ggaagagtgt agtaaatgac aagaaaaaag aaaaggcttc cgttatgata cagaacaacg
     1501 cttatgcagt ggctgttgcc aattatgccc cgaatctttc aaaagatcca gttctctcca
     1561 ccatctccaa gagtgcaacc acgccagaac ccaacaagaa gccagaaaac aagccagctg
     1621 aagcaaagaa aactttcaac agtgttagca aaattgacag aatgtccaga atagtttttc
     1681 cagttttgtt tggtaccttt aatttagttt actgggctac atatttaaac agagaacctg
     1741 tattaggggt cagtccttga attgagaccc atgttatctt tgggatgtat agcaacatta
     1801 aatttggttt gttttgctat gtacagtctg actaataact gctaatttgt gatccaacat
     1861 gtacagtatg tatatagtga catagcttac cagtagacct ttaatggaga catgcatttg
     1921 ctaactcatg gaactgcaga cagaaagcac tccatgcgaa aacagccatt gcctttttta
     1981 aagatttacc ctaggacctg atttaaagtg aatttcaagt gacctgatta atttcctatt
     2041 cttccaaatg agatgaaaat ggggatcctg tacaaccctt tgtggaccct tttggtttag
     2101 ctcttaagta ggggtatttt ctactgttgc ttaattatga tggaagataa cattgtcatt
     2161 cctagatgaa tcctttgaag taacaaacat tgtatctgac atcagctctg ttcatgagtg
     2221 ctcagagtcc ctgctaatgt aattggaagc ttggtacaca taagaaaaac tagagatttg
     2281 aaatcagcta tgaattactc tatatagtat ctatagccat gtacatatta cagcatgaca
     2341 agctcaaata attatgagtc agcccgaaag gatgttaatt atgcctacga tgtaataact
     2401 attggaatgt catggtcatt acatttttag cttcagagtt tatttgaaag taataattga
     2461 aatcctacaa tttattttaa tcattggaaa ctaccttaat taaaaaaaaa gaaaagaaat
     2521 gtgtcttaac atttccaggt atgtgttgta ttgaaattga tcagctaaat tttacgggtg
     2581 ctggagactg gaaaaagcat ccagtttggt tgctgtggag caacatgcat attggattag
     2641 aaaattgtgc caaaaactcc cactgatgag aattcatagg tgccccacac tatgacaaac
     2701 acttatatga ttctcctctt tcctgtttac tgcaaattct gccttaaggc ttcttttcaa
     2761 gactcagaag ccactaatta taaaggaaag ggcagttaat tggcacattt ttctcttgtg
     2821 aaagcagttc tttcagataa gaattaatgt aaatctgctt ttgtaaattg caactttaaa
     2881 tttcgctgac tcaaatttac aacagctttg tataccagaa gaggttttgg taagggttga
     2941 acatttttac actgcaactt taaaacatca ccaatagatt gtggattatt tcacgtgcac
     3001 aaacatacac acacacacac acacacacac acatacacag ctaaattaga aaacacaatt
     3061 ttaaatttta tataattact agttattaat gggtaaaatt catttttctt ttaatatctt
     3121 aaaatattat ttatgccccg aaatatgcta ataaaagtta aagattgtgt attatgccta
     3181 gattcaaagt ttttggcaaa cttcaaatac ttttgattga catgtacatt agcagttatt
     3241 agttgacttt tactaaaaca tgcaccttta cgatggtgtt tttgtagaaa cataagtagt
     3301 caaatagtaa catttattgc agttttgtac agtatttgag tatagtgcat aaataggtat
     3361 gttcataaaa tcaataaaag gagtatctat ggaaataagc aaaatatcag caaaaattgc
     3421 tattcctttg cctcatttaa tttttaaaat ttctttgttt ccatgtgatt ctattatatg
     3481 ctttgcatgc ttgtataaaa ccaaggtcac aaatgcaact tattaacgga atttgccaag
     3541 aagacagcct tgacattaaa aattccctca caagaggtaa tccataatcc ttaataaaat
     3601 aaaattgtta catgagccaa taaatgtatt tctttaattc ccttccagta acactttctt
     3661 tgtcacctag ttttaaaatg tgcactttat tcatacattg aaatagaaga tatcctattt
     3721 tcttatacat ttaaatatag catagctctt ctgtatagtt tagggatgtg tgcaattgta
     3781 taaggaagta cacaatgcca gaaggcaagc aatgaaattg ctctatatgg tatgcattat
     3841 tagatacttt aagaatattt gtcttgtaaa gtccgcattg cccccttaat gtctgactat
     3901 aagttataaa tttataaata tgtgtatatg taaaaacagt tgtaaataac agtttctgta
     3961 tgacaacaga aaaggcttat ctatactttg ggcaaagagc tgctactata ttgatggcac
     4021 cagtattatt agcatttatg gcagattgac cagaaaactt atcactgtta ttcttatttt
     4081 aaatttcatg tggtaaaatt ttatttgagt gcaatgacat tctggcagtt cagatttttc
     4141 agtgctaggg atcagaattc tttgttattt ctttaaactt tgatgtactt tttacatatt
     4201 tcttcttctt ttaatgttta aataaatcaa aaggagcttc ttctcttgtg gggagactag
     4261 ggatgctccg tggaaattgc ttttaaatta tagaacaaga ttcgtaacaa ttataatcct
     4321 ttccatgaac caatttaaaa acaaatttaa aaggatttta atttatcaca ataaggccaa
     4381 tttttcagaa aatacatttt atatatacta acactgatct ctttggccca taagattata
     4441 cctattttat gcagttgtac aatgacataa agagttatgg tatgtacaaa atgtagataa
     4501 atacatgtac atatatagag atataatctc attattttat agctactact ctgatttaac
     4561 taatatttat tcaaaaatat tttttacctc ctgtgccatg ccctgtaatt ggtgttaaaa
     4621 tcactcatgt cacacccact gaatttagtt gaaattttaa gtgcatctca ttcttataat
     4681 gacttgaaat taaagactat ataaaacatg taaattaatt tagtactggg agttctttaa
     4741 tgagctatga tgccactagt gtgctaggat aggtggctgt ttttctcttt tctcctgttc
     4801 atgttcccat gtgtttgatt ataaaatgga agaaatataa ccatttaata tatatttttt
     4861 aaattttaat gattttatta agtgccaatc ttaatgttta gaaatctttt caggtatctc
     4921 tctattttga atttatctca ggtttggata agtgatcccc ttgagccatg tttctaaatt
     4981 ttttttctta aatagttcat agtttatttt taaaaacaac ccagaatcta ttattttact
     5041 ctcattattt ggtaagtata atttgcattt atgtggctct ttttgaattc ctggttgagg
     5101 gacacaaacc ctgccatgat ataatcatgg attccagaag agcaccaaag tacttttctt
     5161 tggcatggcc ggtcatcatt ccaatgaaag aagaaaggaa gtagctcaag tcaccttctg
     5221 cattatcatg gttctttggc atccattaat aatttgttta atgtattcta tgcctgatgc
     5281 cctcagacac atgtctgtga aacacagaca tatttattat ttacttggaa atatgaggtt
     5341 atgttaatag atttactaaa cagattatta ttgttattag tctcctggca cactgacatt
     5401 catctgcatg tttttgaagc aatgaccaaa ttttttatca tatgaaaaca ttcagaattt
     5461 taaggggatt actacctgac tcattgctac cctatagtgc cattcatttt ccttttaatt
     5521 gaggtcccat aggcacctcg tgcttccctt ttattaattt aaagtatgca gaagtgtaaa
     5581 attttaactg gggaggggtg cagttatttt tgacatctgc atgcttgaga aacatggaca
     5641 ctataccaaa accacttgta acagtgtgga gaagacaagt catattttta tctactgaat
     5701 tcatgctcta aaaattaaag taaatattta acataattat ttaatatcca taatattttg
     5761 ctgttaaaat ttatattaaa gatattaata ttttccatca gtatttaaga gctcagaatt
     5821 actgaaaaga agaaaccaca ggaaacagga gactgttgtt aattaaacca agtgaagcat
     5881 ttttcccttt ttaacttccg agaaagtaga taaattatac atatgtagac acacaaatat
     5941 tttaagagtc gttattctat catagtaagc atcataacta aaatactaaa gtagagaaag
     6001 ttcatgtgaa agtcatttgg gaaggtaaat tattcaatat ctacttataa atattatata
     6061 tcataatttt gtttttttgc taaaattctt aattatcaac atatctagac cactgtgtct
     6121 tccatcttgt taagttgaaa tattctattt ttgtttgttt atatatgaag aaatacttat
     6181 aaaggtggtt atacgtccca cctcaaacta ctcaatgatg tatttaatac ataacattac
     6241 ctaatattgc caatagtaaa gaacaattta caggtttatg tttcagctta cagtaatgtt
     6301 cccaaagatc ttttaatagg gtcttagctg tgtgtgtcag tgatgtgtgt atgtttgcga
     6361 gtgtgtatgt gtgtaattcc taggtatgta tggaataatg ttttgagaaa ttcagataaa
     6421 tttatgatat ctaaacaatt tgttttatta atggatctta tcacaaattc agctcttatt
     6481 aaactagcaa ttaacttgca cactagaaca catttttcag taaatccata acaaacttat
     6541 taattagaat taggtttgag ttatgcatat ggttaaaaat atcttttcta tgttggtgta
     6601 aactttttcg aatgtatttc tagttttttt ttaaaaaaag attaaattca aaatgatctt
     6661 gcaattctgc ttcatgagat agaatagaaa catctttgaa tgccaggttt ctcaacggag
     6721 gcttgtgtaa gctcttctaa aagttaaata tctggttatt tacaaataca aagttatgta
     6781 tattcattac tgatttgttt cataccttac tttttgaatt ggaatgattc agagtataat
     6841 tcttacagag agcccatcac atactagtca acgttctaag ttttttatgc atattagttc
     6901 attcagtcct cacagcagcc atcatcactg tgtgattctt gaagctctgg aaatctagga
     6961 tttctatata gtacaccaac ataccagttt acatatatta taggaaaggt aaacgaaaca
     7021 aacaaacaaa aaaacaaaaa acaacaaaaa aaccaaaaac ctgtgttttt tctttgcttt
     7081 aattcaaatt tatattcatg ccttttgggg aatattcatt caataaggga gccattacat
     7141 ggttttctac ataacaaaac aaacaagtaa aaagcaaaca ctcaacaata aaactgtact
     7201 gtacagtaag caatacccgt ttttgtgatg ctagctattt actaacttct ttggtacaat
     7261 ttagtttctg ggaatatatt gcagttttct tttttggttc acaagtaatg atcacgtatt
     7321 aaaaatgatt aatgttgatt aagcaaaagt aagcacttcc ttcatttcct tttttttcta
     7381 attttgccag ttttattagt ggttggagag atgtgttttc atttgtcata ttgttcgttt
     7441 cataacattt aatcccattg ggcttcaagg attatgtatt gatttcatca aatattttgt
     7501 tgtaagttac cgtttataga atgacgcctg aattgatccc aagggatgcc accggtggga
     7561 ttgcaattgc tgaattagct tactaggttt gaaaatgtca gttttccatg cttcttttta
     7621 gaagactttg ccataacatg atgccaaaag gcaaactatg ttgcattggc tatataaact
     7681 gtattattgg ctatacatga atatttccaa caaagtttat ttgtaaaaac aactgatgct
     7741 aagaaagcaa gagttagttg cagaattact ttagaaatag tactgataga tttgttcaga
     7801 atttattttt aacatattcg acatagtcgt tgaagcaatt gattgtgctt taaactgatc
     7861 ataatgtgta aaaaggtgta acgtataatt agaaagacat aagtaaaact caattattga
     7921 gccacaattc tcatgaatta aactttacca tccacagtta agtccttatt gcttgttaat
     7981 cttgggtgcc tgcactacac ttgattttaa aattgttggt cttctataaa ttttcaagat
     8041 tttcctgagc agatacaaat tcaggttttg atgtgcttca aactaaggaa catcaccttt
     8101 catgaaatgt ttccagtaga tgtgatgtga gtgaaaactt taaaaaatgt catacttatt
     8161 gctacatttg aatagaaaat aaaaggaata aagtattttt cctttgctac aaattaataa
     8221 tacgatcaca tgcagagaga atgtgaggaa ccttcaacac taaactttga tagtcacatt
     8281 atgtgaaatt tgaaattttc tgggtgacag tatacttatt ggtaggtttt ctggttcatg
     8341 aaaataactc aagaactaat atttgtaatt gtgaccttgt tgtaattggg aaaggccact
     8401 agttgatcat atgaccttta ttgaatatgt catgcttgct gtttaaaaaa ttcctaacta
     8461 atcacatgca aattaatgct aaacaacttt tttgtattta ttaaaaatga tttaaatata
//
LOCUS       NM_000808               3669 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit alpha3
            (GABRA3), mRNA.
ACCESSION   NM_000808
VERSION     NM_000808.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3669)
  AUTHORS   Li YY, Zheng XH, Deng AP, Wang Y, Liu J, Zhou Q, Cheng GY and Jiang
            Q.
  TITLE     MiR-92b inhibited cells EMT by targeting Gabra3 and predicted
            prognosis of triple negative breast cancer patients
  JOURNAL   Eur Rev Med Pharmacol Sci 23 (23), 10433-10442 (2019)
   PUBMED   31841197
  REMARK    GeneRIF: MiR-92b inhibited cells EMT by targeting Gabra3 and
            predicted prognosis of triple negative breast cancer patients.
REFERENCE   2  (bases 1 to 3669)
  AUTHORS   Nuwer JL and Fleck MW.
  TITLE     Anterograde trafficking signals in GABAA subunits are required for
            functional expression
  JOURNAL   Channels (Austin) 13 (1), 440-454 (2019)
   PUBMED   31610743
  REMARK    GeneRIF: The intracellular domain of GABRA3 and GABRB3 each contain
            essential anterograde trafficking signals that are required to
            overcome ER retention of assembled GABAA homo- or heteropentamers.
REFERENCE   3  (bases 1 to 3669)
  AUTHORS   Fain,J.S., Van Tongelen,A., Loriot,A. and De Smet,C.
  TITLE     Epigenetic Coactivation of MAGEA6 and CT-GABRA3 Defines Orientation
            of a Segmental Duplication in the Human X Chromosome
  JOURNAL   Cytogenet Genome Res 159 (1), 12-18 (2019)
   PUBMED   31593956
  REMARK    GeneRIF: data indicate that the activation of CT-GABRA3 is
            correlated with that of MAGEA6. Therefore, MAGEA6 is linked with
            CT-GABRA3 through a bidirectional promoter.
REFERENCE   4  (bases 1 to 3669)
  AUTHORS   Stefanits H, Milenkovic I, Mahr N, Pataraia E, Hainfellner JA,
            Kovacs GG, Sieghart W, Yilmazer-Hanke D and Czech T.
  TITLE     GABAA receptor subunits in the human amygdala and hippocampus:
            Immunohistochemical distribution of 7 subunits
  JOURNAL   J Comp Neurol 526 (2), 324-348 (2018)
   PUBMED   29023704
  REMARK    GeneRIF: The GABRA3 found distribute in intercalated nucleui of
            amygdala and dentate gyrus.
REFERENCE   5  (bases 1 to 3669)
  AUTHORS   Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J,
            Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota
            M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M,
            Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U,
            Bienek M, Jensen C, Hu H, Thiele H, Altmuller J, Krause R, May P,
            Becker F, Balling R, Biskup S, Haas SA, Nurnberg P, van Gassen KLI,
            Lerche H, Zara F, Maljevic S and Leshinsky-Silver E.
  CONSRTM   EuroEPINOMICS Consortium
  TITLE     Rare GABRA3 variants are associated with epileptic seizures,
            encephalopathy and dysmorphic features
  JOURNAL   Brain 140 (11), 2879-2894 (2017)
   PUBMED   29053855
  REMARK    GeneRIF: Five missense variants and one microduplication were
            detected in four families and two sporadic cases presenting with a
            range of epileptic seizure types, a varying degree of intellectual
            disability and developmental delay, sometimes with dysmorphic
            features or nystagmus.
REFERENCE   6  (bases 1 to 3669)
  AUTHORS   Belelli D, Lambert JJ, Peters JA, Wafford K and Whiting PJ.
  TITLE     The interaction of the general anesthetic etomidate with the
            gamma-aminobutyric acid type A receptor is influenced by a single
            amino acid
  JOURNAL   Proc Natl Acad Sci U S A 94 (20), 11031-11036 (1997)
   PUBMED   9380754
REFERENCE   7  (bases 1 to 3669)
  AUTHORS   Togel M, Mossier B, Fuchs K and Sieghart W.
  TITLE     gamma-Aminobutyric acidA receptors displaying association of gamma
            3-subunits with beta 2/3 and different alpha-subunits exhibit unique
            pharmacological properties
  JOURNAL   J Biol Chem 269 (17), 12993-12998 (1994)
   PUBMED   8175718
REFERENCE   8  (bases 1 to 3669)
  AUTHORS   Hadingham KL, Wingrove P, Le Bourdelles B, Palmer KJ, Ragan CI and
            Whiting PJ.
  TITLE     Cloning of cDNA sequences encoding human alpha 2 and alpha 3
            gamma-aminobutyric acidA receptor subunits and characterization of
            the benzodiazepine pharmacology of recombinant alpha 1-, alpha 2-,
            alpha 3-, and alpha 5-containing human gamma-aminobutyric acidA
            receptors
  JOURNAL   Mol Pharmacol 43 (6), 970-975 (1993)
   PUBMED   8391122
REFERENCE   9  (bases 1 to 3669)
  AUTHORS   Bell MV, Bloomfield J, McKinley M, Patterson MN, Darlison MG,
            Barnard EA and Davies KE.
  TITLE     Physical linkage of a GABAA receptor subunit gene to the DXS374
            locus in human Xq28
  JOURNAL   Am J Hum Genet 45 (6), 883-888 (1989)
   PUBMED   2574000
REFERENCE   10  (bases 1 to 3669)
  AUTHORS   Buckle VJ, Fujita N, Ryder-Cook AS, Derry JM, Barnard PJ, Lebo RV,
            Schofield PR, Seeburg PH, Bateson AN, Darlison MG et al.
  TITLE     Chromosomal localization of GABAA receptor subunit genes:
            relationship to human genetic disease
  JOURNAL   Neuron 3 (5), 647-654 (1989)
   PUBMED   2561974
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.180828.1,
            SRR1660803.154983.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142853,
            SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370314.9/ ENSP00000359337.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA402645.1, BC028629.1,
            S62908.1 and AC116666.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000808.3.
            Summary: GABA is the major inhibitory neurotransmitter in the
            mammalian brain where it acts at GABA-A receptors, which are
            ligand-gated chloride channels. Chloride conductance of these
            channels can be modulated by agents such as benzodiazepines that
            bind to the GABA-A receptor. At least 16 distinct subunits of
            GABA-A receptors have been identified. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3669
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..3669
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     alpha3"
                     /db_xref="GeneID:2556"
                     /db_xref="HGNC:HGNC:4077"
                     /db_xref="MIM:305660"
     CDS             197..1675
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="gamma-aminobutyric acid receptor subunit alpha-3;
                     gamma-animobutyric acid (GABA) A receptor, alpha 3; GABA(A)
                     receptor subunit alpha-3; GABA(A) receptor, alpha 3;
                     gamma-aminobutyric acid (GABA) A receptor, alpha 3;
                     gamma-aminobutyric acid type A receptor alpha3 subunit"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit alpha-3
                     precursor"
                     /protein_id="NP_000799.1"
                     /db_xref="CCDS:CCDS14706.1"
                     /db_xref="GeneID:2556"
                     /db_xref="HGNC:HGNC:4077"
                     /db_xref="MIM:305660"
                     /translation="MIITQTSHCYMTSLGILFLINILPGTTGQGESRRQEPGDFVKQDI
                     GGLSPKHAPDIPDDSTDNITIFTRILDRLLDGYDNRLRPGLGDAVTEVKTDIYVTSFGP
                     VSDTDMEYTIDVFFRQTWHDERLKFDGPMKILPLNNLLASKIWTPDTFFHNGKKSVAHN
                     MTTPNKLLRLVDNGTLLYTMRLTIHAECPMHLEDFPMDVHACPLKFGSYAYTTAEVVYS
                     WTLGKNKSVEVAQDGSRLNQYDLLGHVVGTEIIRSSTGEYVVMTTHFHLKRKIGYFVIQ
                     TYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDW
                     FIAVCYAFVFSALIEFATVNYFTKRSWAWEGKKVPEALEMKKKTPAAPAKKTSTTFNIV
                     GTTYPINLAKDTEFSTISKGAAPSASSTPTIIASPKATYVQDSPTETKTYNSVSKVDKI
                     SRIIFPVLFAIFNLVYWATYVNRESAIKGMIRKQ"
     sig_peptide     197..280
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    278..358
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="propagated from UniProtKB/Swiss-Prot (P34903.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    383..385
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P34903.1); glycosylation site"
     misc_feature    683..685
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P34903.1); glycosylation site"
     misc_feature    722..724
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P34903.1); glycosylation site"
     misc_feature    878..880
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P34903.1); glycosylation site"
     misc_feature    1025..1090
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="propagated from UniProtKB/Swiss-Prot (P34903.1);
                     transmembrane region"
     misc_feature    1106..1171
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="propagated from UniProtKB/Swiss-Prot (P34903.1);
                     transmembrane region"
     misc_feature    1208..1273
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="propagated from UniProtKB/Swiss-Prot (P34903.1);
                     transmembrane region"
     misc_feature    1472..1474
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P26049; propagated from
                     UniProtKB/Swiss-Prot (P34903.1); phosphorylation site"
     misc_feature    1475..1477
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P26049; propagated from
                     UniProtKB/Swiss-Prot (P34903.1); phosphorylation site"
     misc_feature    1493..1495
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P26049; propagated from
                     UniProtKB/Swiss-Prot (P34903.1); phosphorylation site"
     misc_feature    1520..1522
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P26049; propagated from
                     UniProtKB/Swiss-Prot (P34903.1); phosphorylation site"
     misc_feature    1568..1633
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="propagated from UniProtKB/Swiss-Prot (P34903.1);
                     transmembrane region"
     regulatory      3648..3653
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="hexamer: ATTAAA"
     polyA_site      3669
                     /gene="GABRA3"
                     /gene_synonym="EPILX2"
                     /note="major polyA site"
ORIGIN
        1 gagcgcgcgc aagctagcga gcaaaccaga gagacagacc gagagaggga ccaggagaga
       61 gacccagaga gagaagaaga agccagaagc cgagctctgt cagggctcaa cctccaactt
      121 gtttcagttc attcatcctt ctctcctttc cgctcagact gtagagctcg gtctctccaa
      181 gtttgtgcct aagaagatga taatcacaca aacaagtcac tgttacatga ccagccttgg
      241 gattcttttc ctgattaata ttctccctgg aaccactggt caaggggaat caagacgaca
      301 agaacccggg gactttgtga agcaggacat tggcgggctg tctcctaagc atgccccaga
      361 tattcctgat gacagcactg acaacatcac tatcttcacc agaatcttgg atcgtcttct
      421 ggacggctat gacaaccggc tgcgacctgg gcttggagat gcagtgactg aagtgaagac
      481 tgacatctac gtgaccagtt ttggccctgt gtcagacact gacatggagt acactattga
      541 tgtatttttt cggcagacat ggcatgatga aagactgaaa tttgatggcc ccatgaagat
      601 ccttccactg aacaatctcc tggctagtaa gatctggaca ccggacacct tcttccacaa
      661 tggcaagaaa tcagtggctc ataacatgac cacgcccaac aagctgctca gattggtgga
      721 caacggaacc ctcctctata caatgaggtt aacaattcat gctgagtgtc ccatgcattt
      781 ggaagatttt cccatggatg tgcatgcctg cccactgaag tttggaagct atgcctatac
      841 aacagctgaa gtggtttatt cttggactct cggaaagaac aaatccgtgg aagtggcaca
      901 ggatggttct cgcttgaacc agtatgacct tttgggccat gttgttggga cagagataat
      961 ccggtctagt acaggagaat atgtcgtcat gacaacccac ttccatctca agcgaaaaat
     1021 tggctacttt gtgatccaga cctacttgcc atgtatcatg actgtcattc tgtcacaagt
     1081 gtcgttctgg ctcaacagag agtctgttcc tgcccgtaca gtctttggtg tcaccactgt
     1141 gcttaccatg accaccttga gtatcagtgc cagaaattcc ttacctaaag tggcatatgc
     1201 gacggccatg gactggttca tagccgtctg ttatgccttt gtattttctg cactgattga
     1261 atttgccact gtcaactatt tcaccaagcg gagttgggct tgggaaggca agaaggtgcc
     1321 agaggccctg gagatgaaga agaaaacacc agcagcccca gcaaagaaaa ccagcactac
     1381 cttcaacatc gtggggacca cctatcccat caacctggcc aaggacactg aattttccac
     1441 catctccaag ggcgctgctc ccagtgcctc ctcaacccca acaatcattg cttcacccaa
     1501 ggccacctac gtgcaggaca gcccgactga gaccaagacc tacaacagtg tcagcaaggt
     1561 tgacaaaatt tcccgcatca tctttcctgt gctctttgcc atattcaatc tggtctattg
     1621 ggccacatat gtcaaccggg agtcagctat caagggcatg atccgcaaac agtagatagt
     1681 ggtggcagtg cagcaaccag agcactgtat accccgtgaa gcatccaggc acccaaaccc
     1741 cggggctccc cttcgcgtat ttcaggattc tcctttttac ccctctacca agctgtgacc
     1801 ctcaattcat atttatgaat ctctacgcaa aaaataacta cagaaaaatt acttgtccct
     1861 ccaatattgc ccagtataac cccatcaaag ccaaacactg ccatttgtcc agttgctcat
     1921 cttagtctgc caatctcccc tagctgaggg cactgcatgt attttattgc actctgcccg
     1981 ctgcaaaaag aacaagagat tctactctcc atagtggaag ccttggctgt ttgagaggcc
     2041 cagaacaagg agaattgttg actcccatct agatcagatg actctaactt actaggcagc
     2101 caggttaggc taggccatgt gatcctgcgt gccacctccc ctgccttcag caaggcctac
     2161 taggcataag tactgatagc aaaggtggga gccagttcta cacccccaac ccatttattg
     2221 gtttggaaat tagtggggac aattggtact aaccaccgtc taccatgtat ggccaaaata
     2281 aatagaacta gctctgccag cctggcacca agatggctgg tgccctgcca tgtccagccc
     2341 ctcgggaaaa tagtcccctc cttggtacat ctctcctcca gaaaatcttc ttcccccact
     2401 gcctttggca cccttgtagc caactgagca ctacttaatt tggactcatt accacctgta
     2461 aacttttcag gaaaaaatga tcaagcattt tttatttata tcgaaaagtt gcaaatagaa
     2521 acaaagtgat ctagatttaa aaaaaacatt tttttaaaat atgggagaga tacaaaagtc
     2581 acctccctgc caaggcaact agcctatact ggattgggta agaggtttgg agtggatggt
     2641 agttgaggat tgaagtctgg ctcaaaagag aaggctactg gcagatgaaa gtcaaattct
     2701 tccttccata cactccacat tccacaccct ggcccaggca cttttctccc accatatcgg
     2761 gaacctccgg tcctctgttg atgccgattc tatgaggggt gaattggaaa ttcatacaaa
     2821 taaatatctc tagtcaatat tgagtcaact agatcattaa ctttattgcc aattttataa
     2881 tatattattt agaggccatt tgttcttaat cttaatgtga gtaaaagaca caggcataaa
     2941 tacgcaattt ttataaggta gataaactga atcccagaag tttgaatgat ttgcctaggc
     3001 tccttacaag tgtctttaat aaagagctat cgtgcgcccc tttccaaagg ccaaaataaa
     3061 ggactgagaa gccaggtcca ccgtgacctc agaatcagca caatctcagc gggccttctg
     3121 ggtcactagt ggaacttggt tgggcaccaa aaaggttttt agaaagtcac aatgtgtcac
     3181 ccaagaagat cacttttaat agtctcagcc caagagaatg agactgttta tgatggcagc
     3241 cccagccact ttggctctga atacctgcac tagtccagag tatcctagaa gcccagggta
     3301 aagccacaga gggcaccaca agcagattct ccctgcccac cggctgaaca aagctcctaa
     3361 ggggtgtatc attagctgct ggttgccttt tcatccatcc tttccccgtc ccctgcttcc
     3421 ttgccattgc tgggataatg catgcccgtc ccattattcc taagactgtg tctgtaggta
     3481 aattcatgac tagaagagtg tagtcttgtg gatatgtggg gatatggggg gtgggagggc
     3541 ggggctgtta atggttgtct taaggaactt agaatggaag cctgatcttt gcctctctgt
     3601 agaaattgtg tttccaaatg ctttggtgca atgtttagct gctgtttatt aaaccctttc
     3661 tgaattgta
//
LOCUS       NM_000809              11147 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit alpha4
            (GABRA4), transcript variant 1, mRNA.
ACCESSION   NM_000809
VERSION     NM_000809.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 11147)
  AUTHORS   Sente A, Desai R, Naydenova K, Malinauskas T, Jounaidi Y, Miehling
            J, Zhou X, Masiulis S, Hardwick SW, Chirgadze DY, Miller KW and
            Aricescu AR.
  TITLE     Differential assembly diversifies GABAA receptor structures and
            signalling
  JOURNAL   Nature 604 (7904), 190-194 (2022)
   PUBMED   35355020
REFERENCE   2  (bases 1 to 11147)
  AUTHORS   Vogel FD, Krenn M, Westphal DS, Graf E, Wagner M, Leiz S,
            Koniuszewski F, Auge-Stock M, Kramer G, Scholze P and Ernst M.
  TITLE     A de novo missense variant in GABRA4 alters receptor function in an
            epileptic and neurodevelopmental phenotype
  JOURNAL   Epilepsia 63 (4), e35-e41 (2022)
   PUBMED   35152403
  REMARK    GeneRIF: A de novo missense variant in GABRA4 alters receptor
            function in an epileptic and neurodevelopmental phenotype.
REFERENCE   3  (bases 1 to 11147)
  AUTHORS   Riley JD, Delahunty C, Alsadah A, Mazzola S and Astbury C.
  TITLE     Further evidence of GABRA4 and TOP3B as autism susceptibility genes
  JOURNAL   Eur J Med Genet 63 (5), 103876 (2020)
   PUBMED   32028044
  REMARK    GeneRIF: Further evidence of GABRA4 and TOP3B as autism
            susceptibility genes.
REFERENCE   4  (bases 1 to 11147)
  AUTHORS   Pierce SR, Senneff TC, Germann AL and Akk G.
  TITLE     Steady-state activation of the high-affinity isoform of the
            alpha4beta2delta GABAA receptor
  JOURNAL   Sci Rep 9 (1), 15997 (2019)
   PUBMED   31690811
  REMARK    GeneRIF: Steady-state activation of the high-affinity isoform of the
            alpha4beta2delta GABAA receptor. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 11147)
  AUTHORS   Jimenez-Jimenez FJ, Esguevillas G, Alonso-Navarro H, Zurdo M,
            Turpin-Fenoll L, Millan-Pascual J, Adeva-Bartolome T, Cubo E,
            Navacerrada F, Amo G, Rojo-Sebastian A, Rubio L, Diez-Fairen M,
            Pastor P, Calleja M, Plaza-Nieto JF, Pilo-de-la-Fuente B,
            Arroyo-Solera M, Garcia-Albea E, Agundez JAG and Garcia-Martin E.
  TITLE     Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and
            risk for restless legs syndrome
  JOURNAL   Pharmacogenomics J 18 (4), 565-577 (2018)
   PUBMED   29720720
  REMARK    GeneRIF: These results suggest association between GABRR3 rs832032
            polymorphism and the risk for restless legs syndrome , and a
            modifier effect of GABRA4 rs2229940 on the age of onset of restless
            legs syndrome .
REFERENCE   6  (bases 1 to 11147)
  AUTHORS   Kumar R, Lumsden A, Ciclitira PJ, Ellis HJ and Laurie GW.
  TITLE     Human genome search in celiac disease using gliadin cDNA as probe
  JOURNAL   J Mol Biol 300 (5), 1155-1167 (2000)
   PUBMED   10903861
REFERENCE   7  (bases 1 to 11147)
  AUTHORS   Whiting PJ, Bonnert TP, McKernan RM, Farrar S, Le Bourdelles B,
            Heavens RP, Smith DW, Hewson L, Rigby MR, Sirinathsinghji DJ,
            Thompson SA and Wafford KA.
  TITLE     Molecular and functional diversity of the expanding GABA-A receptor
            gene family
  JOURNAL   Ann N Y Acad Sci 868, 645-653 (1999)
   PUBMED   10414349
  REMARK    Review article
REFERENCE   8  (bases 1 to 11147)
  AUTHORS   Yang W, Drewe JA and Lan NC.
  TITLE     Cloning and characterization of the human GABAA receptor alpha 4
            subunit: identification of a unique diazepam-insensitive binding
            site
  JOURNAL   Eur J Pharmacol 291 (3), 319-325 (1995)
   PUBMED   8719416
REFERENCE   9  (bases 1 to 11147)
  AUTHORS   McLean PJ, Farb DH and Russek SJ.
  TITLE     Mapping of the alpha 4 subunit gene (GABRA4) to human chromosome 4
            defines an alpha 2-alpha 4-beta 1-gamma 1 gene cluster: further
            evidence that modern GABAA receptor gene clusters are derived from
            an ancestral cluster
  JOURNAL   Genomics 26 (3), 580-586 (1995)
   PUBMED   7607683
REFERENCE   10  (bases 1 to 11147)
  AUTHORS   Togel M, Mossier B, Fuchs K and Sieghart W.
  TITLE     gamma-Aminobutyric acidA receptors displaying association of gamma
            3-subunits with beta 2/3 and different alpha-subunits exhibit unique
            pharmacological properties
  JOURNAL   J Biol Chem 269 (17), 12993-12998 (1994)
   PUBMED   8175718
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.222538.1,
            SRR1660809.260239.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000264318.4/ ENSP00000264318.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK090780.1, AC107383.3 and
            BC037926.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000809.3.
            Summary: Gamma-aminobutyric acid (GABA) is the major inhibitory
            neurotransmitter in the mammalian brain where it acts at GABA-A
            receptors, which are ligand-gated chloride channels. Chloride
            conductance of these channels can be modulated by agents such as
            benzodiazepines that bind to the GABA-A receptor. At least 16
            distinct subunits of GABA-A receptors have been identified. This
            gene encodes subunit alpha-4, which is involved in the etiology of
            autism and eventually increases autism risk through interaction
            with another subunit, gamma-aminobutyric acid receptor beta-1
            (GABRB1). Alternatively spliced transcript variants encoding
            different isoforms have been found in this gene.[provided by
            RefSeq, Feb 2011].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..11147
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p12"
     gene            1..11147
                     /gene="GABRA4"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     alpha4"
                     /db_xref="GeneID:2557"
                     /db_xref="HGNC:HGNC:4078"
                     /db_xref="MIM:137141"
     CDS             158..1822
                     /gene="GABRA4"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; gamma-aminobutyric acid receptor subunit alpha-4;
                     GABA(A) receptor, alpha 4; gamma-aminobutyric acid A
                     receptor alpha 4; gamma-aminobutyric acid (GABA) A
                     receptor, alpha 4; gamma-aminobutyric acid type A receptor
                     alpha4 subunit"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit alpha-4
                     isoform 1 precursor"
                     /protein_id="NP_000800.2"
                     /db_xref="CCDS:CCDS3473.1"
                     /db_xref="GeneID:2557"
                     /db_xref="HGNC:HGNC:4078"
                     /db_xref="MIM:137141"
                     /translation="MVSAKKVPAIALSAGVSFALLRFLCLAVCLNESPGQNQKEEKLCT
                     ENFTRILDSLLDGYDNRLRPGFGGPVTEVKTDIYVTSFGPVSDVEMEYTMDVFFRQTWI
                     DKRLKYDGPIEILRLNNMMVTKVWTPDTFFRNGKKSVSHNMTAPNKLFRIMRNGTILYT
                     MRLTISAECPMRLVDFPMDGHACPLKFGSYAYPKSEMIYTWTKGPEKSVEVPKESSSLV
                     QYDLIGQTVSSETIKSITGEYIVMTVYFHLRRKMGYFMIQTYIPCIMTVILSQVSFWIN
                     KESVPARTVFGITTVLTMTTLSISARHSLPKVSYATAMDWFIAVCFAFVFSALIEFAAV
                     NYFTNIQMEKAKRKTSKPPQEVPAAPVQREKHPEAPLQNTNANLNMRKRTNALVHSESD
                     VGNRTEVGNHSSKSSTVVQESSKGTPRSYLASSPNPFSRANAAETISAARALPSASPTS
                     IRTGYMPRKASVGSASTRHVFGSRLQRIKTTVNTIGATGKLSATPPPSAPPPSGSGTSK
                     IDKYARILFPVTFGAFNMVYWVVYLSKDTMEKSESLM"
     sig_peptide     158..262
                     /gene="GABRA4"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P48169.2)"
     mat_peptide     263..1819
                     /gene="GABRA4"
                     /product="Gamma-aminobutyric acid receptor subunit alpha-4.
                     /id=PRO_0000000441"
                     /note="propagated from UniProtKB/Swiss-Prot (P48169.2)"
     misc_feature    296..298
                     /gene="GABRA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P48169.2); glycosylation site"
     misc_feature    587..589
                     /gene="GABRA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P48169.2); glycosylation site"
     misc_feature    626..628
                     /gene="GABRA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P48169.2); glycosylation site"
     misc_feature    932..997
                     /gene="GABRA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P48169.2);
                     transmembrane region"
     misc_feature    1010..1075
                     /gene="GABRA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P48169.2);
                     transmembrane region"
     misc_feature    1109..1177
                     /gene="GABRA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P48169.2);
                     transmembrane region"
     misc_feature    1205..1300
                     /gene="GABRA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P48169.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1346..1462
                     /gene="GABRA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P48169.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1511..1570
                     /gene="GABRA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P48169.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1640..1702
                     /gene="GABRA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P48169.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1727..1786
                     /gene="GABRA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P48169.2);
                     transmembrane region"
     regulatory      11131..11136
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRA4"
                     /note="hexamer: CATAAA"
     polyA_site      11147
                     /gene="GABRA4"
                     /note="major polyA site"
ORIGIN
        1 acacgcccac cgcggctcgg gctggctgag cgcgggcgag tgtgagcgcg agtgtgcgca
       61 cgccgcggga gcctctctgc cctctcctcg caccctgctc agggcatctg aagagcctgg
      121 aaacgtgaac aggcttgaag tatggcatgt tgcaaagatg gtttctgcca agaaggtacc
      181 cgcgatcgct ctgtccgccg gggtcagttt cgccctcctg cgcttcctgt gcctggcggt
      241 ttgtttaaac gaatccccag gacagaacca aaaggaggag aaattgtgca cagaaaattt
      301 cacccgcatc ctggacagtt tgctcgatgg ttatgacaac aggctgcgtc ctggatttgg
      361 gggtcctgtt acagaagtga aaactgacat atatgtcacc agctttggac ctgtttctga
      421 tgttgaaatg gaatacacaa tggatgtgtt cttcaggcag acatggattg acaaaagatt
      481 aaaatatgac ggccccattg aaattttgag attgaacaat atgatggtaa cgaaagtgtg
      541 gacccctgat actttcttca ggaatggaaa gaaatctgtc tcacataata tgacagctcc
      601 aaataagctt tttagaatta tgagaaatgg tactatttta tacacaatga gactcaccat
      661 aagtgcggag tgtcccatga gattggtgga ttttcccatg gatggtcatg catgcccttt
      721 gaaattcggg agttatgcct atccaaagag tgagatgatc tatacctgga caaaaggtcc
      781 tgagaaatca gttgaagttc cgaaggagtc ttccagctta gttcaatatg atttgattgg
      841 gcaaaccgta tcaagtgaaa ccatcaaatc aattacgggt gaatatattg ttatgacggt
      901 ttacttccac ctcagacgga agatgggtta ttttatgatt cagacctata ttccgtgcat
      961 tatgacagtg attctttctc aagtttcatt ttggataaat aaagaatcag ttcccgctag
     1021 gactgtattt ggaataacaa ctgtcctcac catgaccaca ctaagcatca gtgcacgaca
     1081 ttctttgccc aaagtgtcct atgctaccgc catggactgg ttcatagctg tctgctttgc
     1141 ttttgtattt tcggccctta tcgagtttgc tgctgtcaac tatttcacca atattcaaat
     1201 ggaaaaagcc aaaaggaaga catcaaagcc ccctcaggaa gttcccgctg ctccagtgca
     1261 gagagagaag catcctgaag cccctctgca gaatacaaat gccaatttga acatgagaaa
     1321 aagaacaaat gctttggttc actctgaatc tgatgttggc aacagaactg aggtgggaaa
     1381 ccattcaagc aaatcttcca cagttgttca agaatcttct aaaggcacac ctcggtctta
     1441 cttagcttcc agtccaaacc cattcagccg tgcaaatgca gctgaaacca tatctgcagc
     1501 aagagcactt ccatctgctt ctcctacttc tatccgaact ggatatatgc ctcgaaaggc
     1561 ttcagttgga tctgcttcta ctcgtcacgt gtttggatca agactgcaga ggataaagac
     1621 cacagttaat accatagggg ctactgggaa gttgtcagct actcctcctc catcggctcc
     1681 accaccttct ggatctggca caagtaaaat agacaaatat gcccgtattc tctttccagt
     1741 cacatttggg gcatttaaca tggtttattg ggttgtttat ttatctaagg acactatgga
     1801 gaaatcagaa agtctaatgt aatttcgttg ctatagtagt ttgctaaaag atgatgaaaa
     1861 tgcagaatgt ctttttaaat gtttttaaat ataaacaaat attctttact aaaataaaaa
     1921 ctctgtgtaa tttttccatt taaagatata agccagttat tgggagagtt aattaattcc
     1981 tgagtgaaaa agtgaactat gttttttttc agaaaaatta ttttaaaaga actcagcatt
     2041 cagttagata gaatacacac catcctggaa agttgggata agagaaatag agctattaga
     2101 gacaagtggc gcatattttt tcattgatat ttgaaaacag actatgacat tttaaaaatc
     2161 tgccctatga gtatcaacct gccaccctaa atttcccagt ggcactaccc ttaaccagaa
     2221 ttgtttatta gatgtcatat gcagtgacct ttggtgatct tcttaggaac ttcaagaaaa
     2281 ggaattttcc tgttaaatta aacattggca aaaggaaatg gaatagtata aacactgatc
     2341 aatagagtaa aatatctgct gcataaaaaa ctaagacaaa gaccagagga aatatcttcc
     2401 ctttcttatg ttggctaaac agtacttaac agttgacttg aaattttgtt ctctgagcca
     2461 aagtttaact cattgtatga attctttttc atggtagttc attcagttat gtgtttattt
     2521 actacatagt tattcagagc ctactgtgtt ccaggaacta tgctagaaac tgtctctcta
     2581 ggaaagctct tgcaccttta tctacaatat tacttaaaaa gtagaacagt caatgcatgc
     2641 caaagaacca taaactagca gaggacattg cattctttag tgaaggacat ttatttagag
     2701 tctgacaaca tattcaaaat atttttcagc ctctactgat agtggataac aaatatattt
     2761 gttcacataa ccactttgat gtcagtacaa cttcagcaat tggttttcaa aatagatgag
     2821 aatatggtac agattgttct ataagtgaaa agcattatgt acttgaaagt aaaaatcagg
     2881 gcaatataag acttaataga ttaactgtcg caaatttgat cagagtcaca gagtagaatt
     2941 tgatcagaat cacagaatca tcagacatag gaactgagca caggcttttt caggtgcttt
     3001 ccccaagata gatctagata ttagctagtg aaatgctaaa ttttgaagag ttttgtgtcc
     3061 gtagttctgt aattctgggc agtcatcatg ttggtttttt tgggagtttt tttaaggttt
     3121 aataactaag gggaatattt taaaattaag agagcagcaa atgaaaggag taaagaaaaa
     3181 aatagctgtc gggtaggatg ccactgactc tgctatgtga tttatcaggg ttttcatcta
     3241 ctgacttctt tctcattagg taggcttaac aacttacttg agaattttgc aactgtctat
     3301 gcagctgaat ctaagtatgg ttttttgtca tattgcctct agattttctt ctgtgcttct
     3361 ctctatctgc tctggaatgg atgagtgaat gtgttctggg tgttttaggg aacatattga
     3421 tagaaatgac caccttgcag acaaaatctc tctctctctt tttgttttta tagaaaagaa
     3481 gtgatagtag ttaattggca tcgatttttc agatattgca ctaccttata atggttgttt
     3541 ttgatacctg aaaattgtgc aaatgccaaa tattaattgt aagtcatatc tgagaaatca
     3601 ttcttggctg tctttctagg tattccatag aatcaacaca ttttaaggct gaaagatact
     3661 gtcgaaatca cccagtccca accccccaat ttaaaattga ttctagtaaa attaggtcca
     3721 gtaacacctg tatatatgta tatatttaat aaagagtact tgtacaaaaa agcttatcat
     3781 aaattatttc atgaatgtga atagatttct ggccttgagg acgatgtttg gaaatatggt
     3841 tggaagcaca attcattcgc tactagttat tcagagcgta ctttgttcca ggaactatgc
     3901 tggaaactga tagttcacta ttctgatgaa aaggctggtt ttgttgttgt tgttgttgtt
     3961 gttgttgttg tttttggtga ggaactctta ctctttgcta atctattggc ctatcttaag
     4021 aaataattat ttggttattc attggcttcc tttaaaaaaa agtgttcttc tacaaatctt
     4081 acagagtgta aagagataaa aagaaatgat tttttttctt acctttacat atgaaggttt
     4141 aaaaatacat catgtggcca aagaatgaga aaggacagaa ttaaccaagg attcttaatt
     4201 gttaatttga agaacacatt aaccagaaag cttaaacatt attattaaaa taaattattt
     4261 catttgcaca caatgataat aatgatgata ataataataa taataataat aataataata
     4321 ataataataa tatgttgttt gctttcctta actgaatttc atcaaattca ttcagtgatt
     4381 tttattttgg tcattatttc tatcttccca ataacccaga ggtacatcaa gtaaaaacac
     4441 ttttgcaaag agccagtcac ttttccctct tagaaaatct cagaagaatg attaggggca
     4501 cccaaagttc tggttatcta tgaataataa tgaataattt tggctgagaa tggtaccttt
     4561 atataactct tttaaagatg aaattcagaa taattttatt caggacctag tatctgcagt
     4621 ccatgttggc cactaactgc tacataatta ctttcaattt cctccaggca tgactaggta
     4681 taaacatata tttacatgat taatccacat tttaaaatga cttgcacttg tgcatataca
     4741 tagtactttg aataatgtat attttaaatt ggacctcaca aatcttgtat taaagtaggt
     4801 agagagtaga gtcacacttt ttttgatgaa atgagtcaca gagaagttac atgacaaaga
     4861 taaaatcaca gggttggaaa gaactttgaa aggtcatttt tcaataatct caccttaaaa
     4921 gtgacccctt ttcaaacaaa gcataaacaa tttatttgtg gcttatttta cccatgagct
     4981 ggccaatact tcctggccta gaaaaatatc tccactctcc ccattcctgt tcttaatggt
     5041 cttctcttct caatttgtaa atattctcca gtaaaagaca ccaggtgtgg agatgggtca
     5101 cttaatttca agttctgagt gtcttgtggt tttaaacaag tctcttaacc tctctaagac
     5161 tgattcctca tttataacag ggaggaggtg gattatgtaa tatctaagag cttttcagtt
     5221 ttaatactct ctgattctca tagtaaatac aagcatactc ttgtaagaaa aacactgaat
     5281 actttgaacc acaaataagt gtttatggac aaaaatttag ttctactgct tgattacttt
     5341 aagttcattg cttgcttcaa actaaggttt ccctaccttc aaaaatatat ataacatctc
     5401 tccatttaga taaagtatat tcttccccag ggaagactgt attctttaaa gacagtagaa
     5461 tattggctat ttctcttttc tgggatttcc tgggctttta ttcactaaat gggctcctgc
     5521 ccagtttggg tactgtgctg atttttagat atacagagat aaaaatagcc cctttccttg
     5581 caggtagtca cagtccggaa gagatgatag atgcatagac aaaaaattat gggatgtaac
     5641 taatgcttca gtagaataca gcagggccaa aactagagtg atactcatct caggcacaaa
     5701 tatatatggg gacatcaaaa cttcaataat caagatacct aatatttaag tgaatatttt
     5761 taaaactcaa aattaatgca aaagatttat gatgaacaga atatacaaat tttaaataaa
     5821 ttaatagaat cagtagtaat aatattttct tctgcctcag gctccaaaat tgctcagcat
     5881 agcactgatc tagatagagg tggataaaag atccacataa cttaattaca ttgttgaagg
     5941 agaggaacaa gagtgatagc agagaaggtt tcacagatat aatcttaagc taaattttat
     6001 agaatgattt ggagttctta tagcctccat tcccacttcc acaaacaaac aaaaaaatga
     6061 aagcgcaatt ttatcagcac ctgaggcagg agaagagatg aggatgtgga aagtcaaggg
     6121 gaactcttac tacaaattct tagttctgtg tttggaggta agggtgaatg cagggaagtg
     6181 agagttgttg atgttggaaa gacctaaaga gcctggatta ggaagagttt tgtgtaaatt
     6241 actgaaggaa tggaatttga tcaggattag tggcaattta ttaaaaatct tgaagaataa
     6301 tacgatgaaa actaacatcc ttatttttct gttttagaga aagcacctga ttattgtgtg
     6361 aactatggtt tggagggcca caaatctaga ggtagtggaa cagttgagat ctcttatttt
     6421 ttctttcctg tcttaaactt tgccttctat tccttttttc tttttttgac cgcaatgact
     6481 tcattgtcat ttgtaaaagt gatacatgac tgttaaagat agacattgta gaaacttaaa
     6541 aacaatctca aaattctacc acccagaaat cagaaatatt ttgtatttgg atatgtttgt
     6601 ctagaagagt agattgcttg attaaaagac agagttttat aaatgtagaa gccaatatga
     6661 catacatgct gccattaaat aataaaaaat taaattgact tttatctcaa gataagatta
     6721 aaattggagg gtaaaactga agaaattgtt gaaatttgga tggtgcttct ttaaagcaag
     6781 agatttagag agtcagagct ttttatccca ggtttcaatc tttatttcag gaaaattttc
     6841 tgcaattttg tctaagttaa tttttttttt ttaagaaatg ccaattatgt caaatccctt
     6901 ttgtctctat acaatagtcc ccaactgttt tggcaacagg cacgggtgag ggtgggggaa
     6961 tggttttcag atgaaattgt tccatctcag atcatcaggc attagtcgat tctcataagg
     7021 agcggacaac cttgcatgcc ctcctatgag aatctaatgc cgccgctaat ctgacaggag
     7081 gcagagctca ggcgataatg ctcaatgggt gccactcacc tcctgttgtg ctgcccaatt
     7141 cctaacaggt catggataag tactggtcag tggcccaggg gttggggacc actgctctgt
     7201 aactatttac agtattcttt gtaactactt tggtatcttt aaaattttct ttaacttttg
     7261 tcaaccataa ccctagtgag ttttcagttg tgattattct attttgtaac ttccaatgta
     7321 cttttcaact tcataatggt taattttgtt ttccattgct ttcttggtca ctgtcatttc
     7381 atttttcttc tctttctcta tttttaccat tgctttattg aaatatcttc tttgagcttc
     7441 tcatgtttct ctattaatga gatcatgtct ataatatttt ttgagactac agagacctat
     7501 ttatataaac tcttcctcta tttcttgaaa aagtttttat ctggcgtgag cttcatctgc
     7561 tttttcattg aggttttatc tcccttgcct atttttgggg ctggtttctt tctattaatc
     7621 actgagcaga gccagctatt tactgaacta cagtgtggga agtggtggga gggtgagtca
     7681 gatcagccca cagaagctat ttaaatttca ggtttcaagc ccacctcccc aaaaccgttt
     7741 tatgtgtttt ttcttctgcc caggcaccat atttttatat ctatttttga catttgggcg
     7801 gcctatgtag ttcacagtgt aaaactctct gttttacttt ctttatgtta ttgctagtga
     7861 ttattgcttg tagtcccacc cccttcccca cattagcctt agtattctat attattcagc
     7921 aagcttgttc acaactctca aatatagtct atcagaattt ttatctttac ctctacattc
     7981 cactattcgg aagtatatag taaaatcgta tgaagacaga ttttgtcttt ttcttgcctg
     8041 tttacactct atcttacaga ggtttcaaac aaaccatctt tgtttgaaac atcgcaggat
     8101 aatgatactt attgaaatct acatcctgcc caagatatat gccagtcaat ttcctttctc
     8161 ctattagtgc aaatggctac ctacttaaaa gctgctgact atagtttgtc atcaattact
     8221 tgttaattac agatatggtt ttcatttttt tttctcaatt tttcattatg ttatttttgg
     8281 agactgtctt aggtggggag tgaattataa atatttttat ttcaccacct ttaactgagt
     8341 caccatatgt tatttgcact tccaatagac cagggattga ccagagtatc ttttactgat
     8401 atgaccacca gagctacatg gcttttacct tctgtatatc agatgtcact ggaatcaagc
     8461 attaaaccta gattaaatct ggattaaacc agctgtatgg caccttagaa aattgagaag
     8521 gactaggaag ctgatagaaa gaactcctgt ataaaaaata aattcttttt acattttcct
     8581 tggtagtatt tctgcaagct tctttagttt ctatagggga atcccagagt tttcctctga
     8641 gattgcttcc ctttcctttg tattttcatt tttccctctt gggctttact tttcagtcgt
     8701 gtatttctat cccaatgtta atttattaca ctgtttatat tttcctgtcc ttcaattcat
     8761 cagtagatta gtgaagtact tattccttta attataagta taaacgtttt taatttcttt
     8821 ttggataacg atacatttaa tggaaaattt ttaaatgcta tggtttctta atagcttttc
     8881 tctaccacta attacttccg ttaaaaaaaa aaagaaatac ccatgcgtaa tataaaagaa
     8941 attttgaata aaatgttatc ctttcctttt actagagaca aacatctcca cttcaaaatg
     9001 gaaaaatgga actatgcaaa ggaaatttac gatattcaag agtatgatat tatcactgaa
     9061 ccgattaatt taattgaaaa tactaacctg caaaaaagaa ttacacaaat gtatttgaaa
     9121 tgtcatcaga tacctcaagc tatgacagag ttgattatgt tacacaagta gtaaaggata
     9181 aattaaatat attctatatt aacactaaga tttaaaacta attatagtct tctttaattt
     9241 ttctactgta tacatttcat ctagttttca gtaaaacaaa cttttcatta cttttactta
     9301 tcccatgcaa atctagttgc tataagatat aacctaattt ggaaatacct ccctgtaata
     9361 cattggaatt ttggtgtgag tgtgtgtgat cagagaggat aaacaaatgg tgtcagcaaa
     9421 atagaatgta aaatatggag ataatgtgga tttacacaat ttgataaaaa ttctcccttg
     9481 aattttgcag atcatatatg aatatcatca tgtgaagtgc aattaggatt ttttcatata
     9541 ttaatacata tacatcatct ctttaataaa atattttgct gaactcgttt aatatttctc
     9601 atgtctcata tttcatattt tctcatatgt ctcatatttt atattttctc atatgtgtct
     9661 catttttatt attactatag tatccattaa aggagactgg caaatacctg aacaaagtta
     9721 tgttgttggc aatataagat attaccaatt gcataatatt atttccaaag gcaaattaat
     9781 atgcaaacta tagatttcca tgggtatcta tacaaattat tacttgaagt ccatagaaaa
     9841 cagcttcctt agagggaagt aaaagaagct ctgataacag acaatgtata gcatttcagt
     9901 taaagtttga ttgacatatt tttttctcag tcttttatac ttgtgaatta tagtctacat
     9961 tttgtcttta cagatgttgc taacacagtg cagcatgttg gcttgtcatt ttactgatta
    10021 tgtatattgt ctcctagttc aagtatacag taaatcagag ctttcatttt tcaaggggca
    10081 gaaaaataat tgttggttga taaggtaagg ttatatgatt ttgagggagc ttcattgtaa
    10141 attgaatgag aatccggttt tcatgcaaag gtgtatctat gcgataatac tttgaatgtc
    10201 tgtagtttga aatagaaggt taattttttc cactggctta tccttaatga aggaaatccc
    10261 ctgataatta ctttgattct gaaaatgttg aaaactccag aagaaataaa gcttttcttt
    10321 gatttctcag ctgaagtgtt gtacaaactg aggaatatga agtccattcc cttctttctt
    10381 ctcttgaata attttaaaat tgtttgttta gttgtacaat tgaaaatatt ccttattata
    10441 gaagtaaaaa aacaataatg catatttcct catatcataa aaactaaatt tgttatcatc
    10501 tgagcttcaa tattcttgct caattagaat agtaaatata aagtgtgata tttataacag
    10561 ttcaaggttt gataggagat agaggtgttt tgattttatg ggaaaattac ttcctcaaga
    10621 acacatttct tgaggtttta gtaatcacat ttgactccct gaaattggca attttattca
    10681 atgtaggaat attatcatgg tatattatag tgaggagcac atagtcatta ttattttgtt
    10741 tttgcaaatt tattttgaaa aaaaggagca ttatcaaata ttggtttact attttaaagt
    10801 aattcatcag gaaatgattt tttaaacact gtccctttaa gtaaatgtcc cttgcttttc
    10861 aaagctcaac ttattactta tggtaataga gttactttgc ttcttaaaac aaagtttata
    10921 ctagagcata gcattgtaga attattcagg tctcaatttc tcactggaaa atgagtcttt
    10981 aaaatagtaa ggatttaaat ttctataaaa tttaatcaca gatacttata ttttaagata
    11041 aatgtgttgg agctaaactc tggaattatt aaaatataaa acattatatc cctctaatgt
    11101 attttttcta tttaaattta aaacaataaa cataaatatc tttggaa
//
LOCUS       NM_000810               2553 bp    mRNA    linear   PRI 29-JAN-2023
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit alpha5
            (GABRA5), transcript variant 1, mRNA.
ACCESSION   NM_000810
VERSION     NM_000810.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2553)
  AUTHORS   Chakraborty A, Dey S, Kumar K, Dixit AB, Tripathi M, Sharma MC,
            Chandra PS and Banerjee J.
  TITLE     Novel variants in GABAA receptor subunits: A possible association
            with benzodiazepine resistance in patients with drug-resistant
            epilepsy
  JOURNAL   Epilepsy Res 189, 107056 (2023)
   PUBMED   36469977
  REMARK    GeneRIF: Novel variants in GABAA receptor subunits: A possible
            association with benzodiazepine resistance in patients with
            drug-resistant epilepsy.
REFERENCE   2  (bases 1 to 2553)
  AUTHORS   Arandelovic J, Santrac A, Batinic B, Todorovic L, Stevanovic V,
            Tiruveedhula VVNPB, Sharmin D, Rashid F, Stanojevic B, Cook JM and
            Savic MM.
  TITLE     Effects of alpha5 GABAA receptor modulation on social interaction,
            memory, and neuroinflammation in a mouse model of Alzheimer's
            disease
  JOURNAL   CNS Neurosci Ther 28 (11), 1767-1778 (2022)
   PUBMED   35822698
  REMARK    GeneRIF: Effects of alpha5 GABAA receptor modulation on social
            interaction, memory, and neuroinflammation in a mouse model of
            Alzheimer's disease.
REFERENCE   3  (bases 1 to 2553)
  AUTHORS   Saha S, Chatterjee M, Dutta N, Sinha S and Mukhopadhyay K.
  TITLE     GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the
            Severity of the Indian ASD Probands
  JOURNAL   J Mol Neurosci 72 (6), 1300-1312 (2022)
   PUBMED   35562522
  REMARK    GeneRIF: GABA Receptor SNPs and Elevated Plasma GABA Levels Affect
            the Severity of the Indian ASD Probands.
REFERENCE   4  (bases 1 to 2553)
  AUTHORS   Janeczek P, Colson N, Dodd PR and Lewohl JM.
  TITLE     Sex Differences in the Expression of the alpha5 Subunit of the GABAA
            Receptor in Alcoholics with and without Cirrhosis of the Liver
  JOURNAL   Alcohol Clin Exp Res 44 (2), 423-434 (2020)
   PUBMED   31840824
  REMARK    GeneRIF: Sex Differences in the Expression of the alpha5 Subunit of
            the GABAA Receptor in Alcoholics with and without Cirrhosis of the
            Liver.
REFERENCE   5  (bases 1 to 2553)
  AUTHORS   Hernandez CC, XiangWei W, Hu N, Shen D, Shen W, Lagrange AH, Zhang
            Y, Dai L, Ding C, Sun Z, Hu J, Zhu H, Jiang Y and Macdonald RL.
  TITLE     Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations
            associated with early onset epileptic encephalopathies
  JOURNAL   Brain 142 (7), 1938-1954 (2019)
   PUBMED   31056671
  REMARK    GeneRIF: study identified GABRA5 as a causative gene for early onset
            epileptic encephalopathy and expands the mutant GABRA1 phenotypic
            spectrum, supporting growing evidence that defects in GABAergic
            neurotransmission contribute to early onset epileptic encephalopathy
            phenotypes.
REFERENCE   6  (bases 1 to 2553)
  AUTHORS   Glatt K, Glatt H and Lalande M.
  TITLE     Structure and organization of GABRB3 and GABRA5
  JOURNAL   Genomics 41 (1), 63-69 (1997)
   PUBMED   9126483
  REMARK    Erratum:[1997 Aug 15;44(1):155]
REFERENCE   7  (bases 1 to 2553)
  AUTHORS   Russek SJ and Farb DH.
  TITLE     Mapping of the beta 2 subunit gene (GABRB2) to microdissected human
            chromosome 5q34-q35 defines a gene cluster for the most abundant
            GABAA receptor isoform
  JOURNAL   Genomics 23 (3), 528-533 (1994)
   PUBMED   7851879
REFERENCE   8  (bases 1 to 2553)
  AUTHORS   Knoll JH, Sinnett D, Wagstaff J, Glatt K, Wilcox AS, Whiting PM,
            Wingrove P, Sikela JM and Lalande M.
  TITLE     FISH ordering of reference markers and of the gene for the alpha 5
            subunit of the gamma-aminobutyric acid receptor (GABRA5) within the
            Angelman and Prader-Willi syndrome chromosomal regions
  JOURNAL   Hum Mol Genet 2 (2), 183-189 (1993)
   PUBMED   8388764
REFERENCE   9  (bases 1 to 2553)
  AUTHORS   Glatt KA, Sinnett D and Lalande M.
  TITLE     Dinucleotide repeat polymorphism at the GABAA receptor alpha 5
            (GABRA5) locus at chromosome 15q11-q13
  JOURNAL   Hum Mol Genet 1 (5), 348 (1992)
   PUBMED   1338907
REFERENCE   10  (bases 1 to 2553)
  AUTHORS   Wingrove P, Hadingham K, Wafford K, Kemp JA, Ragan CI and Whiting P.
  TITLE     Cloning and expression of a cDNA encoding the human GABA-A receptor
            alpha 5 subunit
  JOURNAL   Biochem Soc Trans 20 (1), 18S (1992)
   PUBMED   1321750
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.21771.1,
            SRR1660803.71543.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2147975 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000335625.10/ ENSP00000335592.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L08485.1, BC113422.1,
            BC011403.1 and R49008.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000810.3.
            Summary: GABA is the major inhibitory neurotransmitter in the
            mammalian brain where it acts at GABA-A receptors, which are
            ligand-gated chloride channels. Chloride conductance of these
            channels can be modulated by agents such as benzodiazepines that
            bind to the GABA-A receptor. At least 16 distinct subunits of
            GABA-A receptors have been identified. Transcript variants
            utilizing three different alternative non-coding first exons have
            been described. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2553
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q12"
     gene            1..2553
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     alpha5"
                     /db_xref="GeneID:2558"
                     /db_xref="HGNC:HGNC:4079"
                     /db_xref="MIM:137142"
     misc_feature    70..72
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="upstream in-frame stop codon"
     CDS             190..1578
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="GABA(A) receptor subunit alpha-5; gamma-aminobutyric
                     acid type A receptor alpha5 subunit; gamma-aminobutyric
                     acid (GABA) A receptor, alpha 5"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit alpha-5
                     precursor"
                     /protein_id="NP_000801.1"
                     /db_xref="CCDS:CCDS45194.1"
                     /db_xref="GeneID:2558"
                     /db_xref="HGNC:HGNC:4079"
                     /db_xref="MIM:137142"
                     /translation="MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDN
                     ITIFTRILDGLLDGYDNRLRPGLGERITQVRTDIYVTSFGPVSDTEMEYTIDVFFRQSW
                     KDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGTLLY
                     TMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRL
                     NQYHLMGQTVGTENISTSTGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWL
                     NRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFAT
                     VNYFTKRGWAWDGKKALEAAKIKKKREVILNKSTNAFTTGKMSHPPNIPKEQTPAGTSN
                     TTSVSVKPSEEKTSESKKTYNSISKIDKMSRIVFPVLFGTFNLVYWATYLNREPVIKGA
                     ASPK"
     sig_peptide     190..282
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     283..1575
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /product="gamma-aminobutyric acid receptor subunit alpha-5"
     misc_feature    322..324
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P31644.1); glycosylation site"
     misc_feature    622..624
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P31644.1); glycosylation site"
     misc_feature    808..810
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P31644.1); glycosylation site"
     misc_feature    895..897
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P31644.1); glycosylation site"
     misc_feature    967..1032
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="propagated from UniProtKB/Swiss-Prot (P31644.1);
                     transmembrane region"
     misc_feature    1045..1110
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="propagated from UniProtKB/Swiss-Prot (P31644.1);
                     transmembrane region"
     misc_feature    1144..1212
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="propagated from UniProtKB/Swiss-Prot (P31644.1);
                     transmembrane region"
     misc_feature    1318..1425
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="propagated from UniProtKB/Swiss-Prot (P31644.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1471..1536
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="propagated from UniProtKB/Swiss-Prot (P31644.1);
                     transmembrane region"
     regulatory      2528..2533
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="hexamer: AATAAA"
     polyA_site      2553
                     /gene="GABRA5"
                     /gene_synonym="DEE79; EIEE79"
                     /note="major polyA site"
ORIGIN
        1 gcagagggcc gatcctccag cccagagacg acatgtggcg ctcgggcgag tgccttgcag
       61 agagaggagt agcttgctgg ctttgaacgc gtggcgtggc agatatttca gaaagcttca
      121 agaacaagct ggagaaggga agagttattc ctccatattc acctgcttca actactattc
      181 ttattgggaa tggacaatgg aatgttctct ggttttatca tgatcaaaaa cctccttctc
      241 ttttgtattt ccatgaactt atccagtcac tttggctttt cacagatgcc aaccagttca
      301 gtgaaagatg agaccaatga caacatcacg atatttacca ggatcttgga tgggctcttg
      361 gatggctacg acaacagact tcggcccggg ctgggagagc gcatcactca ggtgaggacc
      421 gacatctacg tcaccagctt cggcccggtg tccgacacgg aaatggagta caccatagac
      481 gtgtttttcc gacaaagctg gaaagatgaa aggcttcggt ttaaggggcc catgcagcgc
      541 ctccctctca acaacctcct tgccagcaag atctggaccc cagacacgtt cttccacaac
      601 gggaagaagt ccatcgctca caacatgacc acgcccaaca agctgctgcg gctggaggac
      661 gacggcaccc tgctctacac catgcgcttg accatctctg cagagtgccc catgcagctt
      721 gaggacttcc cgatggatgc gcacgcttgc cctctgaaat ttggcagcta tgcgtaccct
      781 aattctgaag tcgtttacgt ctggaccaac ggctccacca agtcggtggt ggtggcggaa
      841 gatggctcca gactgaacca gtaccacctg atggggcaga cggtgggcac tgagaacatc
      901 agcaccagca caggcgaata cacaatcatg acagctcact tccacctgaa aaggaagatt
      961 ggctactttg tcatccagac ctaccttccc tgcataatga ccgtgatctt atcacaggtg
     1021 tccttttggc tgaaccggga atcagtccca gccaggacag tttttggggt caccacggtg
     1081 ctgaccatga cgaccctcag catcagcgcc aggaactctc tgcccaaagt ggcctacgcc
     1141 accgccatgg actggttcat agccgtgtgc tatgccttcg tcttctcggc gctgatagag
     1201 tttgccacgg tcaattactt taccaagaga ggctgggcct gggatggcaa aaaagccttg
     1261 gaagcagcca agatcaagaa aaagcgtgaa gtcatactaa ataagtcaac aaacgctttt
     1321 acaactggga agatgtctca ccccccaaac attccgaagg aacagacccc agcagggacg
     1381 tcgaatacaa cctcagtctc agtaaaaccc tctgaagaga agacttctga aagcaaaaag
     1441 acttacaaca gtatcagcaa aattgacaaa atgtcccgaa tcgtattccc agtcttgttc
     1501 ggcactttca acttagttta ctgggcaacg tatttgaata gggagccggt gataaaagga
     1561 gccgcctctc caaaataacc ggccacactc ccaaactcca agacagccat acttccagcg
     1621 aaatggtacc aaggagaggt cttgctcaca gggactctcc atatgtgagc actatctttc
     1681 aggaaatttt tgcatgttta ataatatgta caaataatat tgccttgatg tttctatatg
     1741 taacttcaga tgtttccaag atgtcccatt gataattcga gcaaacaact ttctggaaaa
     1801 acaggatacg atgactgaca ctcagatgcc cagtatcata cgttgatagt ttacaaacaa
     1861 gatacgtata tttttaactg cttcaagtgt tacctaacaa tgttttttat acttcaaatg
     1921 tcatttcata caaattttcc cagtgaataa atattttagg aaactctcca tgattattag
     1981 ttgaccaact atattgcgag aaacagagat cataaagagc acgttttcca ttatgaggaa
     2041 acttggacat ttatgtacaa aatgaattgc ctttgataat tcttactgtt ctgaaattag
     2101 gaaagtactg catgatctta cacgaagaaa tagaataggc aaacttttat gcaggcagat
     2161 taataacaga aatacatcat atgttagata cacaaaatat ttccctgagg aaaaaaaatc
     2221 aactgcttaa attttttggg aagaaaaaga aacatttctt accccacacc acccactacc
     2281 tgaacaatag ccaagaaagg aaaggagatg ttaaaacaaa cagtgttttg atgacattct
     2341 cagcacttgg cccatgtgat cgctgtctct gaaacactga ccacctctcc ctacagccag
     2401 cgtgtagtgc ttcagtggtg agaaattgta attgagttat tttccatttt atttccttgt
     2461 atgtatttca tgactggact tactgctctg tcagcttttg tatatgaatc ttaaatgttc
     2521 attaaaaaat aaaaaatgaa ctgatcttgt gga
//
LOCUS       NM_000811               2450 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit alpha6
            (GABRA6), mRNA.
ACCESSION   NM_000811
VERSION     NM_000811.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2450)
  AUTHORS   Riaz M, Abbasi MH, Sheikh N, Saleem T and Virk AO.
  TITLE     GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy
            patients
  JOURNAL   Seizure 93, 88-94 (2021)
   PUBMED   34740144
  REMARK    GeneRIF: GABRA1 and GABRA6 gene mutations in idiopathic generalized
            epilepsy patients.
REFERENCE   2  (bases 1 to 2450)
  AUTHORS   Gonda X, Sarginson J, Eszlari N, Petschner P, Toth ZG, Baksa D,
            Hullam G, Anderson IM, Deakin JFW, Juhasz G and Bagdy G.
  TITLE     A new stress sensor and risk factor for suicide: the T allele of the
            functional genetic variant in the GABRA6 gene
  JOURNAL   Sci Rep 7 (1), 12887 (2017)
   PUBMED   29018204
  REMARK    GeneRIF: stress-associated suicide risk is elevated in carriers of
            the GABRA6 rs3219151 T allele with several independent markers and
            predictors of suicidal behaviours converging to this increased risk.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2450)
  AUTHORS   Chua HC and Chebib M.
  TITLE     GABAA Receptors and the Diversity in their Structure and
            Pharmacology
  JOURNAL   Adv Pharmacol 79, 1-34 (2017)
   PUBMED   28528665
  REMARK    Review article
REFERENCE   4  (bases 1 to 2450)
  AUTHORS   Lynch M, Manly JT and Cicchetti D.
  TITLE     A multilevel prediction of physiological response to challenge:
            Interactions among child maltreatment, neighborhood crime,
            endothelial nitric oxide synthase gene (eNOS), and GABA(A) receptor
            subunit alpha-6 gene (GABRA6)
  JOURNAL   Dev Psychopathol 27 (4 Pt 2), 1471-1487 (2015)
   PUBMED   26535938
  REMARK    GeneRIF: NOS3, GABRA6, child abuse, neighborhood crime Gene x Gene,
            Environment x Environment, and Gene x Environment interactions are
            associated with different patterns of respiratory sinus arrhythmia
            reactivity.
REFERENCE   5  (bases 1 to 2450)
  AUTHORS   Inoue A, Akiyoshi J, Muronaga M, Masuda K, Aizawa S, Hirakawa H,
            Ishitobi Y, Higuma H, Maruyama Y, Ninomiya T, Tanaka Y, Hanada H and
            Kawano Y.
  TITLE     Association of TMEM132D, COMT, and GABRA6 genotypes with cingulate,
            frontal cortex and hippocampal emotional processing in panic and
            major depressive disorder
  JOURNAL   Int J Psychiatry Clin Pract 19 (3), 192-200 (2015)
   PUBMED   25974322
  REMARK    GeneRIF: TMEM132D, COMT and GABRA6 gene polymorphisms may influence
            susceptibility to panic disorder(PD) and major depressive
            disorder(MDD)in Japanese adults; these variants may increase
            vulnerability to PD by modulating oligodendrocytes and GABA and
            dopaminergic functions in related brain regions, altering neuronal
            processing of anxiety-related emotional signals
REFERENCE   6  (bases 1 to 2450)
  AUTHORS   Comings DE, Gade-Andavolu R, Gonzalez N, Wu S, Muhleman D, Blake H,
            Mann MB, Dietz G, Saucier G and MacMurray JP.
  TITLE     A multivariate analysis of 59 candidate genes in personality traits:
            the temperament and character inventory
  JOURNAL   Clin Genet 58 (5), 375-385 (2000)
   PUBMED   11140838
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   7  (bases 1 to 2450)
  AUTHORS   Russek SJ.
  TITLE     Evolution of GABA(A) receptor diversity in the human genome
  JOURNAL   Gene 227 (2), 213-222 (1999)
   PUBMED   10023064
REFERENCE   8  (bases 1 to 2450)
  AUTHORS   Hadingham KL, Garrett EM, Wafford KA, Bain C, Heavens RP,
            Sirinathsinghji DJ and Whiting PJ.
  TITLE     Cloning of cDNAs encoding the human gamma-aminobutyric acid type A
            receptor alpha 6 subunit and characterization of the pharmacology of
            alpha 6-containing receptors
  JOURNAL   Mol Pharmacol 49 (2), 253-259 (1996)
   PUBMED   8632757
REFERENCE   9  (bases 1 to 2450)
  AUTHORS   Togel M, Mossier B, Fuchs K and Sieghart W.
  TITLE     gamma-Aminobutyric acidA receptors displaying association of gamma
            3-subunits with beta 2/3 and different alpha-subunits exhibit unique
            pharmacological properties
  JOURNAL   J Biol Chem 269 (17), 12993-12998 (1994)
   PUBMED   8175718
REFERENCE   10  (bases 1 to 2450)
  AUTHORS   Hicks AA, Bailey ME, Riley BP, Kamphuis W, Siciliano MJ, Johnson KJ
            and Darlison MG.
  TITLE     Further evidence for clustering of human GABAA receptor subunit
            genes: localization of the alpha 6-subunit gene (GABRA6) to distal
            chromosome 5q by linkage analysis
  JOURNAL   Genomics 20 (2), 285-288 (1994)
   PUBMED   8020978
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.258927.1,
            SRR1660803.145888.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03465402,
            SAMN03465403 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000274545.10/ ENSP00000274545.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA068807.1, BC096241.3 and
            AC091944.2.
            On Nov 22, 2018 this sequence version replaced NM_000811.2.
            Summary: GABA is the major inhibitory neurotransmitter in the
            mammalian brain where it acts at GABA-A receptors, which are
            ligand-gated chloride channels. Chloride conductance of these
            channels can be modulated by agents such as benzodiazepines that
            bind to the GABA-A receptor. At least 16 distinct subunits of
            GABA-A receptors have been identified. [provided by RefSeq, Jul
            2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2450
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q34"
     gene            1..2450
                     /gene="GABRA6"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     alpha6"
                     /db_xref="GeneID:2559"
                     /db_xref="HGNC:HGNC:4080"
                     /db_xref="MIM:137143"
     misc_feature    234..236
                     /gene="GABRA6"
                     /note="upstream in-frame stop codon"
     CDS             270..1631
                     /gene="GABRA6"
                     /note="gamma-aminobutyric acid receptor subunit alpha-6;
                     GABA subunit A receptor alpha 6; GABA(A) receptor subunit
                     alpha-6; GABA(A) receptor, alpha 6; gamma-aminobutyric acid
                     (GABA) A receptor, alpha 6; gamma-aminobutyric acid type A
                     receptor alpha6 subunit"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit alpha-6
                     precursor"
                     /protein_id="NP_000802.2"
                     /db_xref="CCDS:CCDS4356.1"
                     /db_xref="GeneID:2559"
                     /db_xref="HGNC:HGNC:4080"
                     /db_xref="MIM:137143"
                     /translation="MASSLPWLCIILWLENALGKLEVEGNFYSENVSRILDNLLEGYDN
                     RLRPGFGGAVTEVKTDIYVTSFGPVSDVEMEYTMDVFFRQTWTDERLKFGGPTEILSLN
                     NLMVSKIWTPDTFFRNGKKSIAHNMTTPNKLFRIMQNGTILYTMRLTINADCPMRLVNF
                     PMDGHACPLKFGSYAYPKSEIIYTWKKGPLYSVEVPEESSSLLQYDLIGQTVSSETIKS
                     NTGEYVIMTVYFHLQRKMGYFMIQIYTPCIMTVILSQVSFWINKESVPARTVFGITTVL
                     TMTTLSISARHSLPKVSYATAMDWFIAVCFAFVFSALIEFAAVNYFTNLQTQKAKRKAQ
                     FAAPPTVTISKATEPLEAEIVLHPDSKYHLKKRITSLSLPIVSSSEANKVLTRAPILQS
                     TPVTPPPLSPAFGGTSKIDQYSRILFPVAFAGFNLVYWVVYLSKDTMEVSSSVE"
     sig_peptide     270..326
                     /gene="GABRA6"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     327..1628
                     /gene="GABRA6"
                     /product="gamma-aminobutyric acid receptor subunit alpha-6"
     misc_feature    360..362
                     /gene="GABRA6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16445.2); glycosylation site"
     misc_feature    651..653
                     /gene="GABRA6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16445.2); glycosylation site"
     misc_feature    690..692
                     /gene="GABRA6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16445.2); glycosylation site"
     misc_feature    996..1061
                     /gene="GABRA6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16445.2);
                     transmembrane region"
     misc_feature    1074..1139
                     /gene="GABRA6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16445.2);
                     transmembrane region"
     misc_feature    1170..1241
                     /gene="GABRA6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16445.2);
                     transmembrane region"
     misc_feature    1476..1478
                     /gene="GABRA6"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P30191; propagated from
                     UniProtKB/Swiss-Prot (Q16445.2); phosphorylation site"
     misc_feature    1527..1592
                     /gene="GABRA6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16445.2);
                     transmembrane region"
     regulatory      2430..2435
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRA6"
                     /note="hexamer: AATAAA"
     polyA_site      2450
                     /gene="GABRA6"
                     /note="major polyA site"
ORIGIN
        1 agtcagagga gcctgggtgt ctgcaggaca taatctaaga ccacaaacca ccttgttcca
       61 cgtgagaagg aaacaagaaa gaagggagcc aggggaatcc tgcaaatttt taggcaacct
      121 ctttatctat tggattactg acttgaggca aacaaggaac agagatatga agggtttgaa
      181 agatttctcc agttgattgg cagagaagag ctggctagca gggaggacga ccctaggagg
      241 gtgaattctg catttcagtg cactgcagga tggcgtcgtc tctgccctgg ctgtgcatta
      301 ttctgtggct agaaaatgcc ctagggaaac tcgaagttga aggcaacttc tactcagaaa
      361 acgtcagtcg gatcctggac aacttgcttg aaggctatga caatcggctg cggccgggat
      421 ttggaggtgc tgtcactgaa gtcaaaacag acatttatgt gaccagtttt gggcccgtgt
      481 cagatgtgga gatggagtat acgatggatg tttttttccg ccagacctgg actgatgaga
      541 ggttgaagtt tggggggcca actgagattc tgagtctgaa taatttgatg gtcagtaaaa
      601 tctggacgcc tgacaccttt ttcagaaatg gtaaaaagtc cattgctcac aacatgacaa
      661 ctcctaataa actcttcaga ataatgcaga atggaaccat tttatacacc atgaggctta
      721 ccatcaatgc tgactgtccc atgaggctgg ttaactttcc tatggatggg catgcttgtc
      781 cactcaagtt tgggagctat gcttatccca aaagtgaaat catatatacg tggaaaaaag
      841 gaccacttta ctcagtagaa gtcccagaag aatcttcaag ccttctccag tatgatctga
      901 ttggacaaac agtatctagt gagacaatta aatctaacac aggtgaatac gttataatga
      961 cagtttactt ccacttgcaa aggaagatgg gctacttcat gatacagata tacactcctt
     1021 gcattatgac agtcattctt tcccaggtgt ctttctggat taataaggag tccgtcccag
     1081 caagaactgt ttttgggatc accactgttt taactatgac cactttgagc atcagtgccc
     1141 ggcactcttt gccaaaagtg tcatatgcca ctgccatgga ttggttcata gctgtttgct
     1201 ttgcattcgt cttctctgcg cttatcgagt tcgcagctgt caactacttt accaatcttc
     1261 agacacagaa ggccaaaagg aaggcacagt ttgcagcccc acccacagtg acaatatcaa
     1321 aagctactga acctttggaa gctgagattg ttttgcatcc tgactccaaa tatcatctga
     1381 agaaaaggat cacttctctg tctttgccaa tagtttcatc ttccgaggcc aataaagtgc
     1441 tcacgagagc gcccatctta caatcaacac ctgtcacacc cccaccactc tcgccagcct
     1501 ttggaggcac cagtaaaata gaccagtatt ctcgaattct cttcccagtt gcatttgcag
     1561 gattcaacct tgtgtactgg gtagtttatc tttccaaaga tacaatggaa gtcagtagca
     1621 gtgttgaata gcttgcggcc aggacaacct gaattctata agttcttgtt ttctgtttcc
     1681 tatgttttct taaaaaatag cattgagact tgtgtagatg cttctcagaa catgaaatca
     1741 aattggaaat ctgtaacgca gcttccgtaa gcatgtgtgg gcaaaaaagc aataatccta
     1801 ctcctcaaaa tagaaagttg aagattgctg aaaaatatga cttttctgta tgttagagaa
     1861 aaactttatg aggatgaaat gggttcaaga tgaatttgtc aacttttgtc ttccattgtt
     1921 cagtattttt aattgtcact gtaaataaca tttaccacaa ggcagataaa ataagaaatg
     1981 ctgacacttc caaaggttgc cttaaaatat gtttattttg gcttagttcc cgagagggca
     2041 aaatataaat acagtctaaa tatttatcag taggttaata ccagcatgtt ggaggccttt
     2101 atgctagtaa aatggctttc agtggcattg taaagcctac attgagctta gccatttgtt
     2161 tttaacctcg ctgtgctctt ttacctcaat aaaatgtggt gtttgtatac atataaatta
     2221 tacatagctc ataaattatg tatgcatatg tacatagctg tagttggact aaaattcagt
     2281 gtgttttatc ctactaaatt ctccttttaa aataatacac ttaccataat tctatgaggt
     2341 tgtagaaaaa agtactcatt ataaggaagc cttgtatatt atgactatgg ttatctcttg
     2401 tgttttccac atttccaatt ataacactaa ataaaacaac aataaacatg
//
LOCUS       NM_000812               1939 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit beta1
            (GABRB1), mRNA.
ACCESSION   NM_000812
VERSION     NM_000812.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1939)
  AUTHORS   McCabe WA, Way MJ, Ruparelia K, Knapp S, Ali MA, Anstee QM, Thomas
            HC, McQuillin A and Morgan MY.
  TITLE     Genetic variation in GABRbeta1 and the risk for developing alcohol
            dependence
  JOURNAL   Psychiatr Genet 27 (3), 110-115 (2017)
   PUBMED   28346242
  REMARK    GeneRIF: No allelic association was detected in this study between
            tested SNPs and risk for developing alcohol dependence in a British
            and Irish population; however, modest genotypic associations were
            found with several intronic GABRbeta1 SNPs that may directly
            influence alcohol dependence risk or may be in linkage
            disequilibrium with causal risk variants in nearby genes, including
            other GABA receptor subunits
REFERENCE   2  (bases 1 to 1939)
  AUTHORS   Sundar IK, Yin Q, Baier BS, Yan L, Mazur W, Li D, Susiarjo M and
            Rahman I.
  TITLE     DNA methylation profiling in peripheral lung tissues of smokers and
            patients with COPD
  JOURNAL   Clin Epigenetics 9, 38 (2017)
   PUBMED   28416970
  REMARK    GeneRIF: Results from genome-wide DNA methylation, functional
            network analysis and pyrosequencing, show selective CpG sites
            (NOS1AP, BID, and GABRB1) differentially methylated in smokers and
            chronic obstructive pulmonary disease patients compared to
            nonsmokers. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1939)
  AUTHORS   Janve VS, Hernandez CC, Verdier KM, Hu N and Macdonald RL.
  TITLE     Epileptic encephalopathy de novo GABRB mutations impair
            gamma-aminobutyric acid type A receptor function
  JOURNAL   Ann Neurol 79 (5), 806-825 (2016)
   PUBMED   26950270
REFERENCE   4  (bases 1 to 1939)
  AUTHORS   Halder D, Mandal C, Lee BH, Lee JS, Choi MR, Chai JC, Lee YS, Jung
            KH and Chai YG.
  TITLE     PCDHB14- and GABRB1-like nervous system developmental genes are
            altered during early neuronal differentiation of NCCIT cells treated
            with ethanol
  JOURNAL   Hum Exp Toxicol 34 (10), 1017-1027 (2015)
   PUBMED   25566775
  REMARK    GeneRIF: PCDHB14- and GABRB1-like nervous system developmental genes
            are altered during early neuronal differentiation of NCCIT cells
            treated with ethanol
REFERENCE   5  (bases 1 to 1939)
  AUTHORS   Bristow GC, Bostrom JA, Haroutunian V and Sodhi MS.
  TITLE     Sex differences in GABAergic gene expression occur in the anterior
            cingulate cortex in schizophrenia
  JOURNAL   Schizophr Res 167 (1-3), 57-63 (2015)
   PUBMED   25660468
  REMARK    GeneRIF: This study showed that in male group the expression of
            GABRB1 was generally lower in schizophrenia cases compared to the
            control, but was higher in female group.
REFERENCE   6  (bases 1 to 1939)
  AUTHORS   Moss SJ, Smart TG, Blackstone CD and Huganir RL.
  TITLE     Functional modulation of GABAA receptors by cAMP-dependent protein
            phosphorylation
  JOURNAL   Science 257 (5070), 661-665 (1992)
   PUBMED   1323140
REFERENCE   7  (bases 1 to 1939)
  AUTHORS   Moss SJ, Doherty CA and Huganir RL.
  TITLE     Identification of the cAMP-dependent protein kinase and protein
            kinase C phosphorylation sites within the major intracellular
            domains of the beta 1, gamma 2S, and gamma 2L subunits of the
            gamma-aminobutyric acid type A receptor
  JOURNAL   J Biol Chem 267 (20), 14470-14476 (1992)
   PUBMED   1321150
REFERENCE   8  (bases 1 to 1939)
  AUTHORS   Dean M, Lucas-Derse S, Bolos A, O'Brien SJ, Kirkness EF, Fraser CM
            and Goldman D.
  TITLE     Genetic mapping of the beta 1 GABA receptor gene to human chromosome
            4, using a tetranucleotide repeat polymorphism
  JOURNAL   Am J Hum Genet 49 (3), 621-626 (1991)
   PUBMED   1652891
REFERENCE   9  (bases 1 to 1939)
  AUTHORS   Kirkness EF, Kusiak JW, Fleming JT, Menninger J, Gocayne JD, Ward DC
            and Venter JC.
  TITLE     Isolation, characterization, and localization of human genomic DNA
            encoding the beta 1 subunit of the GABAA receptor (GABRB1)
  JOURNAL   Genomics 10 (4), 985-995 (1991)
   PUBMED   1655634
REFERENCE   10  (bases 1 to 1939)
  AUTHORS   Garrett KM, Saito N, Duman RS, Abel MS, Ashton RA, Fujimori S, Beer
            B, Tallman JF, Vitek MP and Blume AJ.
  TITLE     Differential expression of gamma-aminobutyric acidA receptor
            subunits
  JOURNAL   Mol Pharmacol 37 (5), 652-657 (1990)
   PUBMED   2160058
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.651721.1,
            SRR3476690.105677.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2151741 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000295454.8/ ENSP00000295454.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC107392.6, AC105394.3 and
            AC097712.3.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000812.3.
            Summary: The gamma-aminobutyric acid (GABA) A receptor is a
            multisubunit chloride channel that mediates the fastest inhibitory
            synaptic transmission in the central nervous system. This gene
            encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome
            4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and
            gamma 1 subunits of the GABA A receptor. Alteration of this gene is
            implicated in the pathogenetics of schizophrenia. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p12"
     gene            1..1939
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     beta1"
                     /db_xref="GeneID:2560"
                     /db_xref="HGNC:HGNC:4081"
                     /db_xref="MIM:137190"
     misc_feature    71..73
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /note="upstream in-frame stop codon"
     CDS             86..1510
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /note="gamma-aminobutyric acid receptor subunit beta-1;
                     gamma-aminobutyric acid (GABA) A receptor, beta 1;
                     gamma-aminobutyric acid type A receptor beta1 subunit"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit beta-1
                     precursor"
                     /protein_id="NP_000803.2"
                     /db_xref="CCDS:CCDS3474.1"
                     /db_xref="GeneID:2560"
                     /db_xref="HGNC:HGNC:4081"
                     /db_xref="MIM:137190"
                     /translation="MWTVQNRESLGLLSFPVMITMVCCAHSTNEPSNMSYVKETVDRLL
                     KGYDIRLRPDFGGPPVDVGMRIDVASIDMVSEVNMDYTLTMYFQQSWKDKRLSYSGIPL
                     NLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMM
                     DLRRYPLDEQNCTLEIESYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKK
                     VEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYDASAARVALGIT
                     TVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKG
                     ASKQDQSANEKNKLEMNKVQVDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDS
                     ASIQYRKPLSSREAYGRALDRHGVPSKGRIRRRASQLKVKIPDLTDVNSIDKWSRMFFP
                     ITFSLFNVVYWLYYVH"
     sig_peptide     86..157
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    398..400
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P18505.2); glycosylation site"
     misc_feature    605..607
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P18505.2); glycosylation site"
     misc_feature    821..886
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /note="propagated from UniProtKB/Swiss-Prot (P18505.2);
                     transmembrane region"
     misc_feature    896..964
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /note="propagated from UniProtKB/Swiss-Prot (P18505.2);
                     transmembrane region"
     misc_feature    998..1066
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /note="propagated from UniProtKB/Swiss-Prot (P18505.2);
                     transmembrane region"
     misc_feature    1439..1504
                     /gene="GABRB1"
                     /gene_synonym="DEE45; EIEE45"
                     /note="propagated from UniProtKB/Swiss-Prot (P18505.2);
                     transmembrane region"
ORIGIN
        1 attcgggaat tactgcccag cagccgacta agttgcattc cttgaatctt cgcagaaaag
       61 acaattcttt taatcagagt tagtaatgtg gacagtacaa aatcgagaga gtctggggct
      121 tctctctttc cctgtgatga ttaccatggt ctgttgtgca cacagcacca atgaacccag
      181 caacatgtca tacgtgaaag agacagtgga cagattgctc aaaggatatg acattcgctt
      241 gcggccggac ttcggagggc cccccgtcga cgttgggatg cggatcgatg tcgccagcat
      301 agacatggtc tccgaagtga atatggatta tacactcacc atgtatttcc agcagtcttg
      361 gaaagacaaa aggctttctt attctggaat cccactgaac ctcaccctag acaatagggt
      421 agctgaccaa ctctgggtac cagacaccta ctttctgaat gacaagaaat catttgtgca
      481 tggggtcaca gtgaaaaatc gaatgattcg actgcatcct gatggaacag ttctctatgg
      541 actccgaatc acaaccacag ctgcatgtat gatggatctt cgaagatatc cattggatga
      601 gcagaactgc accctggaga tcgaaagtta tggctatacc actgatgaca ttgaatttta
      661 ctggaatgga ggagaagggg cagtcactgg tgttaataaa atcgaacttc ctcaattttc
      721 aattgttgac tacaagatgg tgtctaagaa ggtggagttc acaacaggag cgtatccacg
      781 actgtcacta agttttcgtc taaagagaaa cattggttac ttcattttgc aaacctacat
      841 gccttctaca ctgattacaa ttctgtcctg ggtgtctttt tggatcaact atgatgcatc
      901 tgcagccaga gtcgcactag gaatcacgac agtgcttaca atgacaacca tcagcaccca
      961 cctcagggag accctgccaa agatccctta tgtcaaagcg attgatattt atctgatggg
     1021 ttgctttgtg tttgtgttcc tggctctgct ggagtatgcc tttgtaaatt acatcttctt
     1081 tgggaaaggc cctcagaaaa agggagctag caaacaagac cagagtgcca atgagaagaa
     1141 taaactggag atgaataaag tccaggtcga cgcccacggt aacattctcc tcagcaccct
     1201 ggaaatccgg aatgagacga gtggctcgga agtgctcacg agcgtgagcg accccaaggc
     1261 caccatgtac tcctatgaca gcgccagcat ccagtaccgc aagcccctga gcagccgcga
     1321 ggcctacggg cgcgccctgg accggcacgg ggtacccagc aaggggcgca tccgcaggcg
     1381 tgcctcccag ctcaaagtca agatccccga cttgactgat gtgaattcca tagacaagtg
     1441 gtcccgaatg tttttcccca tcaccttttc tctttttaat gtcgtctatt ggctttacta
     1501 tgtacactga ggtctgttct aatggttcca tttagactac tttcctcttc tattgttttt
     1561 taaccttaca ggtccccaac agcgatactg ctgtttctcg aggtaagaga ttcagccatc
     1621 caattggttt taggtcttgc atatcagttt tattactgca ccatgtttac ttcaaaaaga
     1681 caaaacaaaa aaaaaattat ttttccagtc taccgtggtc caggttatca gctctttaag
     1741 agctctatta attgccatgt ttacaaacaa acacaaagag agaagttaga caggtagatc
     1801 tttagcagtc ttttctagtt tccctggatt tcactgattt attttttagg gaaaatgaaa
     1861 agaggacctt gctgtccgcc tgcactgctt cctggtaaac tataacaaac ttatgctgcc
     1921 aaaaaaaaaa aaaaaaaaa
//
LOCUS       NM_000814               5767 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit beta3
            (GABRB3), transcript variant 1, mRNA.
ACCESSION   NM_000814
VERSION     NM_000814.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5767)
  AUTHORS   Coskunpinar EM, Tur S, Cevher Binici N and Yazan Songur C.
  TITLE     Association of GABRG3, GABRB3, HTR2A gene variants with autism
            spectrum disorder
  JOURNAL   Gene 870, 147399 (2023)
   PUBMED   37019319
  REMARK    GeneRIF: Association of GABRG3, GABRB3, HTR2A gene variants with
            autism spectrum disorder.
REFERENCE   2  (bases 1 to 5767)
  AUTHORS   Babij R, Ferrer C, Donatelle A, Wacks S, Buch AM, Niemeyer JE, Ma H,
            Duan ZRS, Fetcho RN, Che A, Otsuka T, Schwartz TH, Huang BS, Liston
            C and De Marco Garcia NV.
  TITLE     Gabrb3 is required for the functional integration of pyramidal
            neuron subtypes in the somatosensory cortex
  JOURNAL   Neuron 111 (2), 256-274 (2023)
   PUBMED   36446382
  REMARK    GeneRIF: Gabrb3 is required for the functional integration of
            pyramidal neuron subtypes in the somatosensory cortex.
REFERENCE   3  (bases 1 to 5767)
  AUTHORS   Saha S, Chatterjee M, Dutta N, Sinha S and Mukhopadhyay K.
  TITLE     GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the
            Severity of the Indian ASD Probands
  JOURNAL   J Mol Neurosci 72 (6), 1300-1312 (2022)
   PUBMED   35562522
  REMARK    GeneRIF: GABA Receptor SNPs and Elevated Plasma GABA Levels Affect
            the Severity of the Indian ASD Probands.
REFERENCE   4  (bases 1 to 5767)
  AUTHORS   Absalom NL, Liao VWY, Johannesen KMH, Gardella E, Jacobs J, Lesca G,
            Gokce-Samar Z, Arzimanoglou A, Zeidler S, Striano P, Meyer P,
            Benkel-Herrenbrueck I, Mero IL, Rummel J, Chebib M, Moller RS and
            Ahring PK.
  TITLE     Gain-of-function and loss-of-function GABRB3 variants lead to
            distinct clinical phenotypes in patients with developmental and
            epileptic encephalopathies
  JOURNAL   Nat Commun 13 (1), 1822 (2022)
   PUBMED   35383156
  REMARK    GeneRIF: Gain-of-function and loss-of-function GABRB3 variants lead
            to distinct clinical phenotypes in patients with developmental and
            epileptic encephalopathies. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5767)
  AUTHORS   Togel M, Mossier B, Fuchs K and Sieghart W.
  TITLE     gamma-Aminobutyric acidA receptors displaying association of gamma
            3-subunits with beta 2/3 and different alpha-subunits exhibit unique
            pharmacological properties
  JOURNAL   J Biol Chem 269 (17), 12993-12998 (1994)
   PUBMED   8175718
REFERENCE   6  (bases 1 to 5767)
  AUTHORS   Knoll JH, Cheng SD and Lalande M.
  TITLE     Allele specificity of DNA replication timing in the
            Angelman/Prader-Willi syndrome imprinted chromosomal region
  JOURNAL   Nat Genet 6 (1), 41-46 (1994)
   PUBMED   8136833
REFERENCE   7  (bases 1 to 5767)
  AUTHORS   Kirkness EF and Fraser CM.
  TITLE     A strong promoter element is located between alternative exons of a
            gene encoding the human gamma-aminobutyric acid-type A receptor beta
            3 subunit (GABRB3)
  JOURNAL   J Biol Chem 268 (6), 4420-4428 (1993)
   PUBMED   8382702
REFERENCE   8  (bases 1 to 5767)
  AUTHORS   Saitoh,S., Kubota,T., Ohta,T., Jinno,Y., Niikawa,N., Sugimoto,T.,
            Wagstaff,J. and Lalande,M.
  TITLE     Familial Angelman syndrome caused by imprinted submicroscopic
            deletion encompassing GABAA receptor beta 3-subunit gene
  JOURNAL   Lancet 339 (8789), 366-367 (1992)
   PUBMED   1346439
REFERENCE   9  (bases 1 to 5767)
  AUTHORS   Wagstaff J, Chaillet JR and Lalande M.
  TITLE     The GABAA receptor beta 3 subunit gene: characterization of a human
            cDNA from chromosome 15q11q13 and mapping to a region of conserved
            synteny on mouse chromosome 7
  JOURNAL   Genomics 11 (4), 1071-1078 (1991)
   PUBMED   1664410
REFERENCE   10  (bases 1 to 5767)
  AUTHORS   Wagstaff J, Knoll JH, Fleming J, Kirkness EF, Martin-Gallardo A,
            Greenberg F, Graham JM Jr, Menninger J, Ward D, Venter JC et al.
  TITLE     Localization of the gene encoding the GABAA receptor beta 3 subunit
            to the Angelman/Prader-Willi region of human chromosome 15
  JOURNAL   Am J Hum Genet 49 (2), 330-337 (1991)
   PUBMED   1714232
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.196731.1, BC010641.1
            [ECO:0000332]
            RNAseq introns :: mixed/partial sample support SAMEA1965299,
            SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000311550.10/ ENSP00000308725.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104569.7, M82919.1 and
            AC009878.9.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000814.5.
            Summary: This gene encodes a member of the ligand-gated ionic
            channel family. The encoded protein is one the subunits of a
            multi-subunit chloride channel that serves as the receptor for
            gamma-aminobutyric acid, a major inhibitory neurotransmitter of the
            mammalian nervous system. This gene is located on the long arm of
            chromosome 15 in a cluster with two other genes encoding related
            subunits of the family. This gene may be associated with the
            pathogenesis of several disorders including Angelman syndrome,
            Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and
            autism. Alternatively spliced transcript variants encoding distinct
            isoforms have been described. [provided by RefSeq, Jul 2013].
            Transcript Variant: This variant (1) encodes isoform 1, which is of
            the same length as isoform 2, but has a distinct N-terminus.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5767
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q12"
     gene            1..5767
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     beta3"
                     /db_xref="GeneID:2562"
                     /db_xref="HGNC:HGNC:4083"
                     /db_xref="MIM:137192"
     CDS             105..1526
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; gamma-aminobutyric acid type A receptor beta3 subunit;
                     gamma-aminobutyric acid A receptor beta 3; GABA-alpha
                     receptor beta-2 subunit; GABAA receptor beta-3 subunit;
                     gamma-aminobutyric acid (GABA) A receptor, beta 3"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit beta-3
                     isoform 1 precursor"
                     /protein_id="NP_000805.1"
                     /db_xref="CCDS:CCDS10019.1"
                     /db_xref="GeneID:2562"
                     /db_xref="HGNC:HGNC:4083"
                     /db_xref="MIM:137192"
                     /translation="MWGLAGGRLFGIFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLL
                     KGYDIRLRPDFGGPPVCVGMNIDIASIDMVSEVNMDYTLTMYFQQYWRDKRLAYSGIPL
                     NLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMM
                     DLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGGDKAVTGVERIELPQFSIVEHRLVSRN
                     VVFATGAYPRLSLSFRLKRNIGYFILQTYMPSILITILSWVSFWINYDASAARVALGIT
                     TVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFLALLEYAFVNYIFFGRGPQRQK
                     KLAEKTAKAKNDRSKSESNRVDAHGNILLTSLEVHNEMNEVSGGIGDTRNSAISFDNSG
                     IQYRKQSMPREGHGRFLGDRSLPHKKTHLRRRSSQLKIKIPDLTDVNAIDRWSRIVFPF
                     TFSLFNLVYWLYYVN"
     sig_peptide     105..179
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     180..1523
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /product="gamma-aminobutyric acid receptor subunit beta-3
                     isoform 1"
     misc_feature    201..203
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:24909990; propagated from
                     UniProtKB/Swiss-Prot (P28472.1); glycosylation site"
     misc_feature    417..419
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:24909990; propagated from
                     UniProtKB/Swiss-Prot (P28472.1); glycosylation site"
     misc_feature    624..626
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:24909990; propagated from
                     UniProtKB/Swiss-Prot (P28472.1); glycosylation site"
     misc_feature    840..905
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="propagated from UniProtKB/Swiss-Prot (P28472.1);
                     transmembrane region"
     misc_feature    915..983
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="propagated from UniProtKB/Swiss-Prot (P28472.1);
                     transmembrane region"
     misc_feature    1017..1085
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="propagated from UniProtKB/Swiss-Prot (P28472.1);
                     transmembrane region"
     misc_feature    1455..1520
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="propagated from UniProtKB/Swiss-Prot (P28472.1);
                     transmembrane region"
     regulatory      4517..4522
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="hexamer: AATAAA"
     polyA_site      4540
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
     regulatory      5748..5753
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="hexamer: ATTAAA"
     polyA_site      5767
                     /gene="GABRB3"
                     /gene_synonym="DEE43; ECA5; EIEE43"
                     /note="major polyA site"
ORIGIN
        1 agcgcggcgg cggcggcggc ggcggcagca gcaggagcag ccccggctgc gggtcgcgac
       61 ggcggcgggg cgccccctcc cccgtgccgg ggcgcggcgg agggatgtgg ggccttgcgg
      121 gaggaaggct tttcggcatc ttctcggccc cggtgctggt ggctgtggtg tgctgcgccc
      181 agagtgtgaa cgatcccggg aacatgtcct ttgtgaagga gacggtggac aagctgttga
      241 aaggctacga cattcgccta agacccgact tcgggggtcc cccggtctgc gtggggatga
      301 acatcgacat cgccagcatc gacatggttt ccgaagtcaa catggattat accttaacca
      361 tgtattttca acaatattgg agagataaaa ggctcgccta ttctgggatc cctctcaacc
      421 tcacgcttga caatcgagtg gctgaccagc tatgggtgcc cgacacatat ttcttaaatg
      481 acaaaaagtc atttgtgcat ggagtgacag tgaaaaaccg catgatccgt cttcaccctg
      541 atgggacagt gctgtatggg ctcagaatca ccacgacagc agcatgcatg atggacctca
      601 ggagataccc cctggacgag cagaactgca ctctggaaat tgaaagctat ggctacacca
      661 cggatgacat tgagttttac tggcgaggcg gggacaaggc tgttaccgga gtggaaagga
      721 ttgagctccc gcagttctcc atcgtggagc accgtctggt ctcgaggaat gttgtcttcg
      781 ccacaggtgc ctatcctcga ctgtcactga gctttcggtt gaagaggaac attggatact
      841 tcattcttca gacttatatg ccctctatac tgataacgat tctgtcgtgg gtgtccttct
      901 ggatcaatta tgatgcatct gctgctagag ttgccctcgg gatcacaact gtgctgacaa
      961 tgacaaccat caacacccac cttcgggaga ccttgcccaa aatcccctat gtcaaagcca
     1021 ttgacatgta ccttatgggc tgcttcgtct ttgtgttcct ggcccttctg gagtatgcct
     1081 ttgtcaacta cattttcttt ggaagaggcc ctcaaaggca gaagaagctt gcagaaaaga
     1141 cagccaaggc aaagaatgac cgttcaaaga gcgaaagcaa ccgggtggat gctcatggaa
     1201 atattctgtt gacatcgctg gaagttcaca atgaaatgaa tgaggtctca ggcggcattg
     1261 gcgataccag gaattcagca atatcctttg acaactcagg aatccagtac aggaaacaga
     1321 gcatgcctcg agaagggcat gggcgattcc tgggggacag aagcctcccg cacaagaaga
     1381 cccatctacg gaggaggtct tcacagctca aaattaaaat acctgatcta accgatgtga
     1441 atgccataga cagatggtcc aggatcgtgt ttccattcac tttttctctt ttcaacttag
     1501 tttactggct gtactatgtt aactgagtga ctgtacttga tttttcaaag acttcattta
     1561 acactgagtg aaatattact ctgcctgtca agtttttata cctgtacaca cacagacaca
     1621 caagcagaca cacacatata tacatacgca attgtatata tatgtgaact ttctcagcat
     1681 atatataaaa tacacgtgta tatgaggatg tatgtgtata tgtttataca cacaggagtc
     1741 agtgcccatg tgtatggaag acaaatacac atacatatat acattttgca gctatggaca
     1801 atttaccaca ggatgcatat taaagaaagt catagttttt ttctttttta attgaaaggg
     1861 acaagtatca tctaaatatt atgccttgag aatgagggcg tgaaacacaa tatcatcccc
     1921 aaatgtgtct tgtattatca taagttagat gttttagttt aaaaatcaga aagacattct
     1981 tagttaatct ttgaaaactc atacagtggt attgctagtt taaaatgagt cacttacttc
     2041 atatcctctc gttcagttta gtaagcaaag gcttcttggc ttctctggtg atggggtttg
     2101 ttttcatcgg gcatacgttt tctgcaatgg tttagtggct ggggtgagcc actggcagtg
     2161 tgcttacctg ttgtctgaaa catagataga tcccacgttg atgtctgaac gaccgtcttt
     2221 tgaaaactca tcgggagtga atggcatctc gttgtaagta ctctaatata cagtgtgtag
     2281 tttgtttctg ttgttcactt ggagtggatc cagcttcact gtcatgtgcg aacacagtga
     2341 cacgtttggc cagtgacatt tcaatcactg aaaatgtgct ctacatctcg tatggatttc
     2401 taggcctgat atccaacaga aagcatagac gtctcaggtt attcgttact ctaaggtaaa
     2461 accatctagg atgattttcc cccttgcagt tatgttatca ttcttataac attgtatgtt
     2521 aatagaaaat atatttgcat aatatgcata tatatgtata tttaccaaga ttttgtttct
     2581 tacgcttgct atcatggcag catgcgatgt catattttcc tttatgtgat gtaactactt
     2641 tctgttatct agaaattaag attgaagcta aaacacttct actgttcaat ttcagaaact
     2701 aagaatcatc ctcatgcctt tatttctgta tctgacatat ttcataagca catccaacta
     2761 ctcctagact gactaggatt ctgcaggaac atgacccgta cacaccacgc gtcacccaac
     2821 gacccatgac cgttctctga ggcaaaggag ggcaacctga cagcaaacac agtcactgtt
     2881 ggttccttct gatccacagc ctcatcagta tttggacttt ttaaagctcg tagaaacaag
     2941 acaaggtgca ccggtttcat agacgcaacc ttaacttact atttagatga gatctttcta
     3001 aagaaaaaaa aaagagatga tatatttttt gtaaacaata tttctatcac aggcatccat
     3061 aaactgaaat gactacagtt gtgcaaacag gtgtcacagt gaagttgagc atttggagaa
     3121 aaaaataaaa agcaaaattt gcaggaagaa ctgctaaatt aatactttat cccaaaatgc
     3181 cacgtatgcc tcaccctctc tgttctatcc aaaaccaagg accagagtgc tccaatggta
     3241 ggccccagtt gtctcgatgt aggtagaggc accaccctcc ccgaggatgc gtgtggtgtg
     3301 gactatcccc atgagctgac cactacttga tttttctttg gtggccgtaa caacctttaa
     3361 tttgtgggca tctgcaacag ttcaaaaccc accatcagat aaaacataat ccacaaaatc
     3421 tcacgctaga ggcaattacc tacttttaga cccttttccc tctttcattc ctatcttttt
     3481 cctcctaatc gctgctctct ggttttattt tcatctggag actagccagg gatttctttg
     3541 gctttggctt ttctctgacc attttttcca tgggtaacaa tgggggatcc taaaagttaa
     3601 acagattggg aaaaaccttg ttaagtggcc ttatcattat tatcatgtta aagaaaaaaa
     3661 atacatttgc aaagacctta tccctttcaa tacttcaggt atctttttct gtatccagta
     3721 attaaaggtg tgaggtccac atgcagaaga gggaccccaa aatgtaaatg gatgtggaca
     3781 aaaacagtca atggtctatt taagtgtata atttatacta ttcagaactg tgacattaat
     3841 tctttctggg agaaaagtga tttaaaactt ttttgatgca tagttgaggt acccaaatat
     3901 caaaggcaga gaccccatgg ggctccaaag agctgcagtc tccttcccaa ggttttctgg
     3961 atataaattt gcatggtata gtcataatag cttttgagct ttttatatgc atttggcacc
     4021 aagactggga tccacaactt tgtagacact gcgatgaagt taacatatta gctatactat
     4081 aaatagtgtt tgtaactaca cacacacaca cacacacaca cacaaataca tacatatatt
     4141 ctgtaaaaac aaaaaaaaac tttttaagat ccttgggtat gtgtttgctt tactccattt
     4201 cagaagaaaa ttacttttct tctaacaaaa ttattttata gcttctccat ttttaaaact
     4261 tgtgagagca ttgagaagag aactctgact gtgttaacag aagagagttg aattggagtc
     4321 tctgttgtgt taaaatgacc tctcgttact ccacagtagt tatttgagcc agtgactgag
     4381 tcgcgttgag gaattctgaa cccggacctc tgacgttgtt gggaggtggc tgttacccac
     4441 acccagacct cttgagtaag gacagaaacg ttatcattgg ggatataatg agatttcttt
     4501 cttaacaatt gaaagtaata aagagttaat tttctcagta gtcctgtctt tccaaaatgc
     4561 gccacagggg ctcaagatct acagaagaat cttgttatga cagtttgtta ttacccatat
     4621 tcagatatcc ttgagataat ggaagagccc tgctacataa ctccctacag agaaagactg
     4681 atagacttga gtagtcctta aaacaagtgt tattcctgtt caccaacccc gggactgtgg
     4741 aggggtttca ctgtctatac catgcgacat ccatttcccc tgaatctcaa acgaactaga
     4801 aagtatgtca tgataatatt tccattagat ttggaagcta cctgtacatc tgcaatattg
     4861 tgtttttaac gccagcaccc agaactttga catgttcagt cactccctga aaggcacttc
     4921 tctcttgtcc aaacacagcg ttgacatttt tactgaggag atcatctcaa aggtgatgcc
     4981 aaacgagtct ggggctggtt ttaaggggac aggcacattg cagttgtagg tgttcatttt
     5041 cagcatctag tagataatcc attggtgttt gtcccaccat tggtgtattc taacaagaat
     5101 gtgtccaact ttgaatctcc tggcttgaaa gtataaacca tcacttaatt cttattttaa
     5161 ctctccacct gaaaaccagt tcatatttct ggccatttta tgtaagcaaa actgaacaat
     5221 tggtgaaaca ttttgttact cttggaattg actctggctg tcagtgtgag ccattagagt
     5281 aacatcgaat cttggggcaa agaactgccc aggtgaatta aatttttcca ggacactagc
     5341 tagtgtgcct tggattgatt acctcttcta ctgcattgaa aggcgccatg ttttcctgaa
     5401 atactaaatt cccaacacct gggtaaacaa tgaccttcca gagagtggct cccgtatgcc
     5461 tctccctagg accaacccca tgaacatgtt ttgtcacgtt tgtctcatgt ttctacttca
     5521 caagtcagtg agtgtgttta aggtaagtac aggattattc tagtaggaat aggcgattgc
     5581 tgtcataatc aattctcatg ttgatttcat tttattgtaa agataaattt aaacccagtt
     5641 ttgcttaagc acattgatgt aattttttgg tattatttga catgaaaaaa cagcaaaatt
     5701 gagtgataga tacaatatga aacttgttga tgaatgaatt caaatttatt aaaaaaggag
     5761 taactga
//
LOCUS       NM_000815               1914 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit delta
            (GABRD), mRNA.
ACCESSION   NM_000815
VERSION     NM_000815.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1914)
  AUTHORS   Pelgrims E, Lynch SA, Hannes L, Hoffer MJV, Melotte C, Van Haeringen
            A, Swillen A and Breckpot J.
  TITLE     Triplications of chromosome 1p36.3, including the genes GABRD and
            SKI, are associated with a developmental disorder and a facial
            gestalt
  JOURNAL   Am J Med Genet A 191 (7), 1889-1899 (2023)
   PUBMED   37129290
  REMARK    GeneRIF: Triplications of chromosome 1p36.3, including the genes
            GABRD and SKI, are associated with a developmental disorder and a
            facial gestalt.
REFERENCE   2  (bases 1 to 1914)
  AUTHORS   Xie X, Zhuang D, Gu J, Wu T, Shen W, Li L, Liu Y, Xu W, Hong Q, Xu
            Z, Chen W, Zhou W and Liu H.
  TITLE     Association of GABA receptor delta subunit gene variations with
            increased risk of methamphetamine dependence
  JOURNAL   Neurosci Lett 800, 137137 (2023)
   PUBMED   36804572
  REMARK    GeneRIF: Association of GABA receptor delta subunit gene variations
            with increased risk of methamphetamine dependence.
REFERENCE   3  (bases 1 to 1914)
  AUTHORS   Li N, Xu X, Liu D, Gao J, Gao Y, Wu X, Sheng H, Li Q and Mi J.
  TITLE     The delta subunit of the GABAA receptor is necessary for the
            GPT2-promoted breast cancer metastasis
  JOURNAL   Theranostics 13 (4), 1355-1369 (2023)
   PUBMED   36923530
  REMARK    GeneRIF: The delta subunit of the GABAA receptor is necessary for
            the GPT2-promoted breast cancer metastasis. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 1914)
  AUTHORS   Lin YF, Chou WH, Liu TH, Fang CP, Kuo HW, Kuo PH, Tsai SJ, Wang SC,
            Chung RH, Tsou HH, Chen ACH and Liu YL.
  TITLE     Splice-Site Variants in the Gene Encoding GABA-A Receptor Delta
            Subunit Are Associated with Amphetamine Use in Patients under
            Methadone Maintenance Treatment
  JOURNAL   Int J Mol Sci 24 (1), 721 (2022)
   PUBMED   36614162
  REMARK    GeneRIF: Splice-Site Variants in the Gene Encoding GABA-A Receptor
            Delta Subunit Are Associated with Amphetamine Use in Patients under
            Methadone Maintenance Treatment. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1914)
  AUTHORS   Sente A, Desai R, Naydenova K, Malinauskas T, Jounaidi Y, Miehling
            J, Zhou X, Masiulis S, Hardwick SW, Chirgadze DY, Miller KW and
            Aricescu AR.
  TITLE     Differential assembly diversifies GABAA receptor structures and
            signalling
  JOURNAL   Nature 604 (7904), 190-194 (2022)
   PUBMED   35355020
REFERENCE   6  (bases 1 to 1914)
  AUTHORS   Lenzen KP, Heils A, Lorenz S, Hempelmann A and Sander T.
  TITLE     Association analysis of the Arg220His variation of the human gene
            encoding the GABA delta subunit with idiopathic generalized epilepsy
  JOURNAL   Epilepsy Res 65 (1-2), 53-57 (2005)
   PUBMED   16023832
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1914)
  AUTHORS   Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D,
            Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF,
            Macdonald RL and Mulley JC.
  TITLE     GABRD encoding a protein for extra- or peri-synaptic GABAA receptors
            is a susceptibility locus for generalized epilepsies
  JOURNAL   Hum Mol Genet 13 (13), 1315-1319 (2004)
   PUBMED   15115768
REFERENCE   8  (bases 1 to 1914)
  AUTHORS   Windpassinger C, Kroisel PM, Wagner K and Petek E.
  TITLE     The human gamma-aminobutyric acid A receptor delta (GABRD) gene:
            molecular characterisation and tissue-specific expression
  JOURNAL   Gene 292 (1-2), 25-31 (2002)
   PUBMED   12119096
REFERENCE   9  (bases 1 to 1914)
  AUTHORS   Emberger W, Windpassinger C, Petek E, Kroisel PM and Wagner K.
  TITLE     Assignment of the human GABAA receptor delta-subunit gene (GABRD) to
            chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid
            mapping
  JOURNAL   Cytogenet Cell Genet 89 (3-4), 281-282 (2000)
   PUBMED   10965146
REFERENCE   10  (bases 1 to 1914)
  AUTHORS   Sommer B, Poustka A, Spurr NK and Seeburg PH.
  TITLE     The murine GABAA receptor delta-subunit gene: structure and
            assignment to human chromosome 1
  JOURNAL   DNA Cell Biol 9 (8), 561-568 (1990)
   PUBMED   2176788
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.662596.1,
            SRR3476690.1096401.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145313 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378585.7/ ENSP00000367848.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA060315.1, BC033801.1,
            AK290861.1, AW291520.1 and AL391845.49.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000815.4.
            Summary: Gamma-aminobutyric acid (GABA) is the major inhibitory
            neurotransmitter in the mammalian brain where it acts at GABA-A
            receptors, which are ligand-gated chloride channels. Chloride
            conductance of these channels can be modulated by agents such as
            benzodiazepines that bind to the GABA-A receptor. The GABA-A
            receptor is generally pentameric and there are five types of
            subunits: alpha, beta, gamma, delta, and rho. This gene encodes the
            delta subunit. Mutations in this gene have been associated with
            susceptibility to generalized epilepsy with febrile seizures, type
            5. Alternatively spliced transcript variants have been described
            for this gene, but their biological validity has not been
            determined. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1914
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..1914
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     delta"
                     /db_xref="GeneID:2563"
                     /db_xref="HGNC:HGNC:4084"
                     /db_xref="MIM:137163"
     CDS             80..1438
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /note="gamma-aminobutyric acid receptor subunit delta;
                     GABA-A receptor, delta polypeptide; GABA(A) receptor
                     subunit delta; GABA(A) receptor, delta; gamma-aminobutyric
                     acid (GABA) A receptor, delta; gamma-aminobutyric acid type
                     A receptor delta subunit"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit delta
                     precursor"
                     /protein_id="NP_000806.2"
                     /db_xref="CCDS:CCDS36.1"
                     /db_xref="GeneID:2563"
                     /db_xref="HGNC:HGNC:4084"
                     /db_xref="MIM:137163"
                     /translation="MDAPARLLAPLLLLCAQQLRGTRAMNDIGDYVGSNLEISWLPNLD
                     GLIAGYARNFRPGIGGPPVNVALALEVASIDHISEANMEYTMTVFLHQSWRDSRLSYNH
                     TNETLGLDSRFVDKLWLPDTFIVNAKSAWFHDVTVENKLIRLQPDGVILYSIRITSTVA
                     CDMDLAKYPMDEQECMLDLESYGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITSYRFT
                     TELMNFKSAGQFPRLSLHFHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAVPARVS
                     LGITTVLTMTTLMVSARSSLPRASAIKALDVYFWICYVFVFAALVEYAFAHFNADYRKK
                     QKAKVKVSRPRAEMDVRNAIVLFSLSAAGVTQELAISRRQRRVPGNLMGSYRSVGVETG
                     ETKKEGAARSGGQGGIRARLRPIDADTIDIYARAVFPAAFAAVNVIYWAAYAM"
     sig_peptide     80..151
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    386..388
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O14764.2); glycosylation site"
     misc_feature    395..397
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O14764.2); glycosylation site"
     misc_feature    824..892
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /note="propagated from UniProtKB/Swiss-Prot (O14764.2);
                     transmembrane region"
     misc_feature    902..970
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /note="propagated from UniProtKB/Swiss-Prot (O14764.2);
                     transmembrane region"
     misc_feature    1004..1072
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /note="propagated from UniProtKB/Swiss-Prot (O14764.2);
                     transmembrane region"
     misc_feature    1247..1249
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P18506; propagated from
                     UniProtKB/Swiss-Prot (O14764.2); phosphorylation site"
     misc_feature    1367..1435
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /note="propagated from UniProtKB/Swiss-Prot (O14764.2);
                     transmembrane region"
     regulatory      1876..1881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /note="hexamer: AATAAA"
     polyA_site      1914
                     /gene="GABRD"
                     /gene_synonym="EIG10; EJM7; GABAARdelta; GEFSP5"
                     /note="major polyA site"
ORIGIN
        1 agctcccgcc cgcctgtgcc gcctgtgcgg ccgccgggag ccaagtttgc gcggaccccg
       61 tcccgagccc gccgcggcca tggacgcgcc cgcccggctg ctggccccgc tcctgctcct
      121 ctgcgcgcag cagctccgcg gcaccagagc gatgaatgac atcggcgact acgtgggctc
      181 caacctggag atctcctggc tccccaacct ggacgggctg atagccggct acgcccgcaa
      241 cttccggcct ggcatcggag gcccccccgt gaatgtggcc cttgccctgg aggtggccag
      301 catcgaccac atctcagagg ccaacatgga gtacaccatg acggtgttcc tgcaccagag
      361 ctggcgggac agcaggctct cctacaacca caccaacgag accctgggtc tggacagccg
      421 cttcgtggac aagctgtggc tgcccgacac cttcatcgtg aacgccaagt cggcctggtt
      481 ccacgacgtg acggtggaga acaagctcat ccggctgcag cccgacggcg tgatcctgta
      541 cagcatccga atcacctcca ctgtggcctg cgacatggac ctggccaaat accccatgga
      601 cgagcaggag tgcatgctgg acctggagag ctacggttac tcatcggagg acatcgtcta
      661 ctactggtcg gagagccagg agcacatcca cgggctggac aagctgcagc tggcgcagtt
      721 caccatcacc agctaccgct tcaccacgga gctgatgaac ttcaagtccg ctggccagtt
      781 cccacggctc agcctgcact tccacctgcg gaggaaccgc ggcgtgtaca tcatccaatc
      841 ctacatgccc tccgtcctgc tggtcgccat gtcctgggtc tccttctgga tcagccaggc
      901 ggcggtgccc gccagggtgt ctctaggcat caccacggtg ctgacgatga ccacgctcat
      961 ggtcagtgcc cgctcctccc tgccacgggc atcagccatc aaggcactgg acgtctactt
     1021 ctggatctgc tatgtcttcg tgtttgccgc cctggtggag tacgcctttg ctcatttcaa
     1081 cgccgactac aggaagaagc agaaggccaa ggtcaaggtc tccaggccga gggcagagat
     1141 ggacgtgagg aacgccattg tcctcttctc cctctctgct gccggcgtca cgcaggagct
     1201 ggccatctcc cgccggcagc gccgcgtccc ggggaacctg atgggctcct acaggtcggt
     1261 gggggtggag acaggggaga cgaagaagga gggggcagcc cgctcaggag gccagggggg
     1321 catccgtgcc cggctcaggc ccatcgacgc agacaccatt gacatttacg cccgcgctgt
     1381 gttccctgcg gcgtttgcgg ccgtcaatgt catctactgg gcggcatacg ccatgtgagc
     1441 acaggactca ggccaccctc gcttgtcctg gcgcccggcg gcagctgccc agaaacttcc
     1501 tgggagaaag agccctcggg ctgccttccc ctctgcgtgt ttcgaagtgg gatgacagtc
     1561 ggccacggaa aacaagagga agcctcggcc tccctgagct ctgaccccag cctcacccga
     1621 aaggccagcc tggggctctc cggcaggcag cccgagacct gcacagatga aggagcagag
     1681 gttctgaccg agaggctgag ccaggccggg gtctgggccc ttcagggagc cgcggatttt
     1741 tatgttcaga aagtgatcct ggtttctagg tctttgctct gcaggatcgg gatcagagcg
     1801 tgggaggagg tgggggtgga cgtccatccg gtgaacagtg aaggcgtttg tgaggtcttt
     1861 ctggtcccag catgaaataa agccttggcc tgggggccgc ttcattctcc ctca
//
LOCUS       NM_000817               3279 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens glutamate decarboxylase 1 (GAD1), transcript variant
            GAD67, mRNA.
ACCESSION   NM_000817
VERSION     NM_000817.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3279)
  AUTHORS   Miyazawa A, Kanahara N, Kogure M, Otsuka I, Okazaki S, Watanabe Y,
            Yamasaki F, Nakata Y, Oda Y, Hishimoto A and Iyo M.
  TITLE     A preliminary genetic association study of GAD1 and GABAB receptor
            genes in patients with treatment-resistant schizophrenia
  JOURNAL   Mol Biol Rep 49 (3), 2015-2024 (2022)
   PUBMED   34845648
  REMARK    GeneRIF: A preliminary genetic association study of GAD1 and GABAB
            receptor genes in patients with treatment-resistant schizophrenia.
REFERENCE   2  (bases 1 to 3279)
  AUTHORS   Sadrirad,S., Samadi,N., Nikanfar,M., Moayed,Z.B., Laghousi,D.,
            Hasanzade,Z., Maroufi,N.F. and Nourazarian,A.
  TITLE     Evaluation of the Diagnostic and Predictive Value of Glutamic Acid
            Decarboxylase, Zinc Transporter 8 Serum Levels in Alzheimer's
            Disease
  JOURNAL   Clin Lab 68 (1) (2022)
   PUBMED   35023669
  REMARK    GeneRIF: Evaluation of the Diagnostic and Predictive Value of
            Glutamic Acid Decarboxylase, Zinc Transporter 8 Serum Levels in
            Alzheimer's Disease.
REFERENCE   3  (bases 1 to 3279)
  AUTHORS   Kogure M, Kanahara N, Miyazawa A, Oishi K, Nakata Y, Oda Y and Iyo
            M.
  TITLE     Interacting Roles of COMT and GAD1 Genes in Patients with
            Treatment-Resistant Schizophrenia: a Genetic Association Study of
            Schizophrenia Patients and Healthy Controls
  JOURNAL   J Mol Neurosci 71 (12), 2575-2582 (2021)
   PUBMED   34125398
  REMARK    GeneRIF: Interacting Roles of COMT and GAD1 Genes in Patients with
            Treatment-Resistant Schizophrenia: a Genetic Association Study of
            Schizophrenia Patients and Healthy Controls.
REFERENCE   4  (bases 1 to 3279)
  AUTHORS   Gu SM, Seo S, Park D, Kim S, Lamichhane S, Han KM, Kim YH, Lee S,
            Hong JT, Cha HJ and Yun J.
  TITLE     Cannabinoid Receptor Type 1 Regulates Drug Reward Behavior via
            Glutamate Decarboxylase 67 Transcription
  JOURNAL   Int J Mol Sci 22 (19), 10486 (2021)
   PUBMED   34638827
  REMARK    GeneRIF: Cannabinoid Receptor Type 1 Regulates Drug Reward Behavior
            via Glutamate Decarboxylase 67 Transcription. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 3279)
  AUTHORS   Alballa T, Boone EL, Ma L, Snyder A and Moeller FG.
  TITLE     Exploring the relationship between white matter integrity, cocaine
            use and GAD polymorphisms using Bayesian Model Averaging
  JOURNAL   PLoS One 16 (7), e0254776 (2021)
   PUBMED   34310624
  REMARK    GeneRIF: Exploring the relationship between white matter integrity,
            cocaine use and GAD polymorphisms using Bayesian Model Averaging.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3279)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301682
REFERENCE   7  (bases 1 to 3279)
  AUTHORS   Kelly CD, Edwards Y, Johnstone AP, Harfst E, Nogradi A, Nussey SS,
            Povey S and Carter ND.
  TITLE     Nucleotide sequence and chromosomal assignment of a cDNA encoding
            the large isoform of human glutamate decarboxylase
  JOURNAL   Ann Hum Genet 56 (3), 255-265 (1992)
   PUBMED   1339255
REFERENCE   8  (bases 1 to 3279)
  AUTHORS   Bu DF, Erlander MG, Hitz BC, Tillakaratne NJ, Kaufman DL,
            Wagner-McPherson CB, Evans GA and Tobin AJ.
  TITLE     Two human glutamate decarboxylases, 65-kDa GAD and 67-kDa GAD, are
            each encoded by a single gene
  JOURNAL   Proc Natl Acad Sci U S A 89 (6), 2115-2119 (1992)
   PUBMED   1549570
REFERENCE   9  (bases 1 to 3279)
  AUTHORS   Giorda,R., Peakman,M., Tan,K.C., Vergani,D. and Trucco,M.
  TITLE     Glutamic acid decarboxylase expression in islets and brain
  JOURNAL   Lancet 338 (8780), 1469-1470 (1991)
   PUBMED   1683463
REFERENCE   10  (bases 1 to 3279)
  AUTHORS   Persson H, Pelto-Huikko M, Metsis M, Soder O, Brene S, Skog S,
            Hokfelt T and Ritzen EM.
  TITLE     Expression of the neurotransmitter-synthesizing enzyme glutamic acid
            decarboxylase in male germ cells
  JOURNAL   Mol Cell Biol 10 (9), 4701-4711 (1990)
   PUBMED   1697032
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC026349.1, BC037780.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2142853 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000358196.8/ ENSP00000350928.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007405.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000817.2.
            Summary: This gene encodes one of several forms of glutamic acid
            decarboxylase, identified as a major autoantigen in
            insulin-dependent diabetes. The enzyme encoded is responsible for
            catalyzing the production of gamma-aminobutyric acid from
            L-glutamic acid. A pathogenic role for this enzyme has been
            identified in the human pancreas since it has been identified as an
            autoantigen and an autoreactive T cell target in insulin-dependent
            diabetes. This gene may also play a role in the stiff man syndrome.
            Deficiency in this enzyme has been shown to lead to pyridoxine
            dependency with seizures. Alternative splicing of this gene results
            in two products, the predominant 67-kD form and a less-frequent
            25-kD form. [provided by RefSeq, Jul 2008].
            Transcript Variant: Transcript variant GAD67 represents the
            full-length and predominant form of this gene.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3279
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..3279
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /note="glutamate decarboxylase 1"
                     /db_xref="GeneID:2571"
                     /db_xref="HGNC:HGNC:4092"
                     /db_xref="MIM:605363"
     misc_feature    61..63
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /note="upstream in-frame stop codon"
     CDS             226..2010
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /EC_number="4.1.1.15"
                     /note="isoform GAD67 is encoded by transcript variant
                     GAD67; GAD-67; 67 kDa glutamic acid decarboxylase;
                     glutamate decarboxylase 1 (brain, 67kDa)"
                     /codon_start=1
                     /product="glutamate decarboxylase 1 isoform GAD67"
                     /protein_id="NP_000808.2"
                     /db_xref="CCDS:CCDS2239.1"
                     /db_xref="GeneID:2571"
                     /db_xref="HGNC:HGNC:4092"
                     /db_xref="MIM:605363"
                     /translation="MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGL
                     KICGFLQRTNSLEEKSRLVSAFKERQSSKNLLSCENSDRDARFRRTETDFSNLFARDLL
                     PAKNGEEQTVQFLLEVVDILLNYVRKTFDRSTKVLDFHHPHQLLEGMEGFNLELSDHPE
                     SLEQILVDCRDTLKYGVRTGHPRFFNQLSTGLDIIGLAGEWLTSTANTNMFTYEIAPVF
                     VLMEQITLKKMREIVGWSSKDGDGIFSPGGAISNMYSIMAARYKYFPEVKTKGMAAVPK
                     LVLFTSEQSHYSIKKAGAALGFGTDNVILIKCNERGKIIPADFEAKILEAKQKGYVPFY
                     VNATAGTTVYGAFDPIQEIADICEKYNLWLHVDAAWGGGLLMSRKHRHKLNGIERANSV
                     TWNPHKMMGVLLQCSAILVKEKGILQGCNQMCAGYLFQPDKQYDVSYDTGDKAIQCGRH
                     VDIFKFWLMWKAKGTVGFENQINKCLELAEYLYAKIKNREEFEMVFNGEPEHTNVCFWY
                     IPQSLRGVPDSPQRREKLHKVAPKIKALMMESGTTMVGYQPQGDKANFFRMVISNPAAT
                     QSDIDFLIEEIERLGQDL"
     misc_feature    226..294
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99259.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    457..459
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48318; propagated from
                     UniProtKB/Swiss-Prot (Q99259.1); phosphorylation site"
     regulatory      3245..3250
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /note="hexamer: AATAAA"
     polyA_site      3279
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /note="major polyA site"
ORIGIN
        1 ctcttctcct ggcgctcgcg tgcgagaggg aactagcgag aacgaggaag cagctggagg
       61 tgacgccggg cagattacgc ctgtcagggc cgagccgagc ggatcgctgg gcgctgtgca
      121 gaggaaaggc gggagtgccc ggctcgctgt cgcagagccg agcctgtttc tgcgccggac
      181 cagtcgagga ctctggacag tagaggcccc gggacgaccg agctgatggc gtcttcgacc
      241 ccatcttcgt ccgcaacctc ctcgaacgcg ggagcggacc ccaataccac taacctgcgc
      301 cccacaacgt acgatacctg gtgcggcgtg gcccatggat gcaccagaaa actggggctc
      361 aagatctgcg gcttcttgca aaggaccaac agcctggaag agaagagtcg ccttgtgagt
      421 gccttcaagg agaggcaatc ctccaagaac ctgctttcct gtgaaaacag cgaccgggat
      481 gcccgcttcc ggcgcacaga gactgacttc tctaatctgt ttgctagaga tctgcttccg
      541 gctaagaacg gtgaggagca aaccgtgcaa ttcctcctgg aagtggtgga catactcctc
      601 aactatgtcc gcaagacatt tgatcgctcc accaaggtgc tggactttca tcacccacac
      661 cagttgctgg aaggcatgga gggcttcaac ttggagctct ctgaccaccc cgagtccctg
      721 gagcagatcc tggttgactg cagagacacc ttgaagtatg gggttcgcac aggtcatcct
      781 cgatttttca accagctctc cactggattg gatattattg gcctagctgg agaatggctg
      841 acatcaacgg ccaataccaa catgtttaca tatgaaattg caccagtgtt tgtcctcatg
      901 gaacaaataa cacttaagaa gatgagagag atagttggat ggtcaagtaa agatggtgat
      961 gggatatttt ctcctggggg cgccatatcc aacatgtaca gcatcatggc tgctcgctac
     1021 aagtacttcc cggaagttaa gacaaagggc atggcggctg tgcctaaact ggtcctcttc
     1081 acctcagaac agagtcacta ttccataaag aaagctgggg ctgcacttgg ctttggaact
     1141 gacaatgtga ttttgataaa gtgcaatgaa agggggaaaa taattccagc tgattttgag
     1201 gcaaaaattc ttgaagccaa acagaaggga tatgttccct tttatgtcaa tgcaactgct
     1261 ggcacgactg tttatggagc ttttgatccg atacaagaga ttgcagatat atgtgagaaa
     1321 tataaccttt ggttgcatgt cgatgctgcc tggggaggtg ggctgctcat gtccaggaag
     1381 caccgccata aactcaacgg catagaaagg gccaactcag tcacctggaa ccctcacaag
     1441 atgatgggcg tgctgttgca gtgctctgcc attctcgtca aggaaaaggg tatactccaa
     1501 ggatgcaacc agatgtgtgc aggatacctc ttccagccag acaagcagta tgatgtctcc
     1561 tacgacaccg gggacaaggc aattcagtgt ggccgccacg tggatatctt caagttctgg
     1621 ctgatgtgga aagcaaaggg cacagtggga tttgaaaacc agatcaacaa atgcctggaa
     1681 ctggctgaat acctctatgc caagattaaa aacagagaag aatttgagat ggttttcaat
     1741 ggcgagcctg agcacacaaa cgtctgtttt tggtatattc cacaaagcct caggggtgtg
     1801 ccagacagcc ctcaacgacg ggaaaagcta cacaaggtgg ctccaaaaat caaagccctg
     1861 atgatggagt caggtacgac catggttggc taccagcccc aaggggacaa ggccaacttc
     1921 ttccggatgg tcatctccaa cccagccgct acccagtctg acattgactt cctcattgag
     1981 gagatagaaa gactgggcca ggatctgtaa tcatccttcg cagaacatga gtttatggga
     2041 atgccttttc cctctggcac tccagaacaa acctctatat gttgctgaaa cacacaggcc
     2101 atttcattga gggaaaacat aatatcttga agaatattgt taaaacctta cttaaagctt
     2161 gtttgttcta gttagcagga aatagtgttc tttttaaaaa gttgcacatt aggaacagag
     2221 tatatatgta cagttataca tacctctctc tatatataca tgtatagtga gtgtggctta
     2281 gtaatagatc acggcatgtt tcccgctcca agagaattca ctttaccttc agcagttacc
     2341 gaggagctaa acatgctgcc aaccagcttg tccaacaact ccaggaaaac tgtttttcaa
     2401 aacgccatgt cctaggggcc gagggaaatg ctgttggtga gaatcgacct cactgtcagc
     2461 gtttctccac ctgaagtgat gatggatgag aaaaaacacc accaaatgac aagtcacacc
     2521 ctccccatta gtatcctgtt aggggaaaat agtagcagag tcattgttac aggtgtacta
     2581 tggctgtatt tttagagatt aatttgtgta gattgtgtaa attcctgttg tctgaccttg
     2641 gtggtgggag ggggagacta tgtgtcatga tttcaatgat tgtttaattg taggtcaatg
     2701 aaatatttgc ttatttatat tcagagatgt accatgttaa agaggcgtct tgtattttct
     2761 tcccatttgt aatgtatctt atttatatat gaagtaagtt ctgaaaactg tttatggtat
     2821 tttcgtgcat ttgtgagcca aagagaaaag attaaaatta gtgagatttg tatttatatt
     2881 agagtgccct taaaataatg atttaagcat tttactgtct gtaagagaat tctaagattg
     2941 tacataaagt catatatatg gaaatcctgt tacttaaata gcatctgctc ttctcttacg
     3001 ctctctgtct ggctgtacgt ctggtgttct caatgctttt ctagcaactg ttggataata
     3061 actagatctc ctgtaatttt gtagtagttg atgaccaatc tctgtgactc gcttagctga
     3121 aacctaaggc aacatttccg aagaccttct gaagatctca gataaagtga ccaggctcac
     3181 aactgttttt gaagaaggga aattcacact gtgcgtttta gagtatgcaa gaagaatata
     3241 aataaataaa aatattctcc atggagaatt tgaacaaaa
//
LOCUS       NM_000819               3318 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens phosphoribosylglycinamide formyltransferase,
            phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole
            synthetase (GART), transcript variant 1, mRNA.
ACCESSION   NM_000819
VERSION     NM_000819.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3318)
  AUTHORS   Tang C, Ke M, Yu X, Sun S, Luo X, Liu X, Zhou Y, Wang Z, Cui X, Gu C
            and Yang Y.
  TITLE     GART Functions as a Novel Methyltransferase in the
            RUVBL1/beta-Catenin Signaling Pathway to Promote Tumor Stemness in
            Colorectal Cancer
  JOURNAL   Adv Sci (Weinh) 10 (25), e2301264 (2023)
   PUBMED   37439412
  REMARK    GeneRIF: GART Functions as a Novel Methyltransferase in the
            RUVBL1/beta-Catenin Signaling Pathway to Promote Tumor Stemness in
            Colorectal Cancer.
REFERENCE   2  (bases 1 to 3318)
  AUTHORS   Kawamura T, Takehora Y, Hori N, Takakura Y, Yamaguchi N, Takano H
            and Yamaguchi N.
  TITLE     VGLL3 increases the dependency of cancer cells on de novo nucleotide
            synthesis through GART expression
  JOURNAL   J Cell Biochem 123 (6), 1064-1076 (2022)
   PUBMED   35434822
  REMARK    GeneRIF: VGLL3 increases the dependency of cancer cells on de novo
            nucleotide synthesis through GART expression.
REFERENCE   3  (bases 1 to 3318)
  AUTHORS   Antonaros F, Zenatelli R, Guerri G, Bertelli M, Locatelli C, Vione
            B, Catapano F, Gori A, Vitale L, Pelleri MC, Ramacieri G, Cocchi G,
            Strippoli P, Caracausi M and Piovesan A.
  TITLE     The transcriptome profile of human trisomy 21 blood cells
  JOURNAL   Hum Genomics 15 (1), 25 (2021)
   PUBMED   33933170
  REMARK    GeneRIF: The transcriptome profile of human trisomy 21 blood cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3318)
  AUTHORS   Jiang YC, Kuang LL, Sun SN, Duan WY, Qiao B and Wang HY.
  TITLE     Association of genetic polymorphisms of de novo nucleotide
            biosynthesis with increased CHD susceptibility in the northern
            Chinese population
  JOURNAL   Clin Genet 91 (5), 748-755 (2017)
   PUBMED   27659940
  REMARK    GeneRIF: The minor A allele of rs7279549 of GART is a functional
            risk factor for congenital heart disease in Shandong population.
REFERENCE   5  (bases 1 to 3318)
  AUTHORS   Bai JA, Jie H, Wei S, Wang S, Guo H and Tang Q.
  TITLE     GART mediates the renewal of intestinal epithelial barrier via
            p38/p53/PUMA cascade in colitis
  JOURNAL   Apoptosis 21 (12), 1386-1397 (2016)
   PUBMED   27718035
  REMARK    GeneRIF: GART expression is up-regulated in patients with active
            colitis.
REFERENCE   6  (bases 1 to 3318)
  AUTHORS   Zalkin H and Dixon JE.
  TITLE     De novo purine nucleotide biosynthesis
  JOURNAL   Prog Nucleic Acid Res Mol Biol 42, 259-287 (1992)
   PUBMED   1574589
  REMARK    Review article
REFERENCE   7  (bases 1 to 3318)
  AUTHORS   Gnirke A, Barnes TS, Patterson D, Schild D, Featherstone T and Olson
            MV.
  TITLE     Cloning and in vivo expression of the human GART gene using yeast
            artificial chromosomes
  JOURNAL   EMBO J 10 (7), 1629-1634 (1991)
   PUBMED   2050105
REFERENCE   8  (bases 1 to 3318)
  AUTHORS   Aimi J, Qiu H, Williams J, Zalkin H and Dixon JE.
  TITLE     De novo purine nucleotide biosynthesis: cloning of human and avian
            cDNAs encoding the trifunctional glycinamide ribonucleotide
            synthetase-aminoimidazole ribonucleotide synthetase-glycinamide
            ribonucleotide transformylase by functional complementation in E.
            coli
  JOURNAL   Nucleic Acids Res 18 (22), 6665-6672 (1990)
   PUBMED   2147474
REFERENCE   9  (bases 1 to 3318)
  AUTHORS   Schild D, Brake AJ, Kiefer MC, Young D and Barr PJ.
  TITLE     Cloning of three human multifunctional de novo purine biosynthetic
            genes by functional complementation of yeast mutations
  JOURNAL   Proc Natl Acad Sci U S A 87 (8), 2916-2920 (1990)
   PUBMED   2183217
REFERENCE   10  (bases 1 to 3318)
  AUTHORS   Chadefaux,B., Allard,D., Rethore,M.O., Raoul,O., Poissonnier,M.,
            Gilgenkrantz,S., Cheruy,C. and Jerome,H.
  TITLE     Assignment of human phosphoribosylglycinamide synthetase locus to
            region 21q221
  JOURNAL   Hum Genet 66 (2-3), 190-192 (1984)
   PUBMED   6232198
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.183700.1,
            SRR1660803.174459.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381815.9/ ENSP00000371236.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB236855.1, AK292897.1,
            X54199.1 and BQ010035.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000819.4.
            Summary: The protein encoded by this gene is a trifunctional
            polypeptide. It has phosphoribosylglycinamide formyltransferase,
            phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole
            synthetase activity which is required for de novo purine
            biosynthesis. This enzyme is highly conserved in vertebrates.
            Alternative splicing of this gene results in two transcript
            variants encoding different isoforms. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (1) encodes the longer protein
            (isoform 1). Variants 1, 3, and 4 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3318
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     gene            1..3318
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="phosphoribosylglycinamide formyltransferase,
                     phosphoribosylglycinamide synthetase,
                     phosphoribosylaminoimidazole synthetase"
                     /db_xref="GeneID:2618"
                     /db_xref="HGNC:HGNC:4163"
                     /db_xref="MIM:138440"
     CDS             95..3127
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /EC_number="2.1.2.2"
                     /EC_number="6.3.3.1"
                     /EC_number="6.3.4.13"
                     /note="isoform 1 is encoded by transcript variant 1;
                     trifunctional purine biosynthetic protein adenosine-3;
                     glycinamide ribonucleotide formyltransferase;
                     GARS-AIRS-GART; GAR transformylase; glycinamide
                     ribonucleotide synthetase-aminoimidazole ribonucleotide
                     synthetase-glycinamide ribonucleotide transformylase"
                     /codon_start=1
                     /product="trifunctional purine biosynthetic protein
                     adenosine-3 isoform 1"
                     /protein_id="NP_000810.1"
                     /db_xref="CCDS:CCDS13627.1"
                     /db_xref="GeneID:2618"
                     /db_xref="HGNC:HGNC:4163"
                     /db_xref="MIM:138440"
                     /translation="MAARVLIIGSGGREHTLAWKLAQSHHVKQVLVAPGNAGTACSEKI
                     SNTAISISDHTALAQFCKEKKIEFVVVGPEAPLAAGIVGNLRSAGVQCFGPTAEAAQLE
                     SSKRFAKEFMDRHGIPTAQWKAFTKPEEACSFILSADFPALVVKASGLAAGKGVIVAKS
                     KEEACKAVQEIMQEKAFGAAGETIVIEELLDGEEVSCLCFTDGKTVAPMPPAQDHKRLL
                     EGDGGPNTGGMGAYCPAPQVSNDLLLKIKDTVLQRTVDGMQQEGTPYTGILYAGIMLTK
                     NGPKVLEFNCRFGDPECQVILPLLKSDLYEVIQSTLDGLLCTSLPVWLENHTALTVVMA
                     SKGYPGDYTKGVEITGFPEAQALGLEVFHAGTALKNGKVVTHGGRVLAVTAIRENLISA
                     LEEAKKGLAAIKFEGAIYRKDVGFRAIAFLQQPRSLTYKESGVDIAAGNMLVKKIQPLA
                     KATSRSGCKVDLGGFAGLFDLKAAGFKDPLLASGTDGVGTKLKIAQLCNKHDTIGQDLV
                     AMCVNDILAQGAEPLFFLDYFSCGKLDLSVTEAVVAGIAKACGKAGCALLGGETAEMPD
                     MYPPGEYDLAGFAVGAMERDQKLPHLERITEGDVVVGIASSGLHSNGFSLVRKIVAKSS
                     LQYSSPAPDGCGDQTLGDLLLTPTRIYSHSLLPVLRSGHVKAFAHITGGGLLENIPRVL
                     PEKLGVDLDAQTWRIPRVFSWLQQEGHLSEEEMARTFNCGVGAVLVVSKEQTEQILRDI
                     QQHKEEAWVIGSVVARAEGSPRVKVKNLIESMQINGSVLKNGSLTNHFSFEKKKARVAV
                     LISGTGSNLQALIDSTREPNSSAQIDIVISNKAAVAGLDKAERAGIPTRVINHKLYKNR
                     VEFDSAIDLVLEEFSIDIVCLAGFMRILSGPFVQKWNGKMLNIHPSLLPSFKGSNAHEQ
                     ALETGVTVTGCTVHFVAEDVDAGQIILQEAVPVKRGDTVATLSERVKLAEHKIFPAALQ
                     LVASGTVQLGENGKICWVKEE"
     misc_feature    98..100
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P22102.1); acetylation site"
     misc_feature    122..124
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P22102.1); phosphorylation site"
     misc_feature    1142..1144
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P22102.1); acetylation site"
     misc_feature    1394..2521
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="propagated from UniProtKB/Swiss-Prot (P22102.1);
                     Region: AIRS domain.
                     /evidence=ECO:0000250|UniProtKB:P21872"
     misc_feature    1412..1414
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P22102.1); phosphorylation site"
     misc_feature    2138..2140
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P22102.1); phosphorylation site"
     misc_feature    2480..2482
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P22102.1); phosphorylation site"
     misc_feature    2498..2500
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P22102.1); phosphorylation site"
     misc_feature    2522..3124
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="propagated from UniProtKB/Swiss-Prot (P22102.1);
                     Region: GART domain. /evidence=ECO:0000269|PubMed:12450384,
                     ECO:0000269|PubMed:12755606, ECO:0007744|PDB:1MEN,
                     ECO:0007744|PDB:1NJS"
     misc_feature    2945..2947
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="Raises pKa of active site His.
                     /evidence=ECO:0000250|UniProtKB:P08179; propagated from
                     UniProtKB/Swiss-Prot (P22102.1); other site"
     regulatory      3271..3276
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="hexamer: AATAGA"
     regulatory      3288..3293
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="hexamer: AACAAG"
     polyA_site      3292
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="major polyA site"
     polyA_site      3318
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
ORIGIN
        1 gggccgactt ccggcgagcg ggcaagcggg aaccaggtgg ccacccggtg tcggtttcat
       61 tttcctttgg aatttctgct ttacagacag aacaatggca gcccgagtac ttataattgg
      121 cagtggagga agggaacata cgctggcctg gaaacttgca cagtctcatc atgtcaaaca
      181 agtgttggtt gccccaggaa acgcaggcac tgcctgctct gaaaagattt caaataccgc
      241 catctcaatc agtgaccaca ctgcccttgc tcaattctgc aaagagaaga aaattgaatt
      301 tgtagttgtt ggaccagaag cacctctggc tgctgggatt gttgggaacc tgaggtctgc
      361 aggagtgcaa tgctttggcc caacagcaga agcggctcag ttagagtcca gcaaaaggtt
      421 tgccaaagag tttatggaca gacatggaat cccaaccgca caatggaagg ctttcaccaa
      481 acctgaagaa gcctgcagct tcattttgag tgcagacttc cctgctttgg ttgtgaaggc
      541 cagtggtctt gcagctggaa aaggggtgat tgttgcaaag agcaaagaag aggcctgcaa
      601 agctgtacaa gagatcatgc aggagaaagc ctttggggca gctggagaaa caattgtcat
      661 tgaagaactt cttgacggag aagaggtgtc gtgtctgtgt ttcactgatg gcaagactgt
      721 ggcccccatg cccccagcac aggaccataa gcgattactg gagggagatg gtggccctaa
      781 cacaggggga atgggagcct attgtccagc ccctcaggtt tctaatgatc tattactaaa
      841 aattaaagat actgttcttc agaggacagt ggatggcatg cagcaagagg gtactccata
      901 tacaggtatt ctctatgctg gaataatgct gaccaagaat ggcccaaaag ttctagagtt
      961 taattgccgt tttggtgatc cagagtgcca agtaatcctc ccacttctta aaagtgatct
     1021 ttatgaagtg attcagtcca ccttagatgg actgctctgc acatctctgc ctgtttggct
     1081 agaaaaccac accgccctaa ctgttgtcat ggcaagtaaa ggttatcctg gagactacac
     1141 caagggtgta gagataacag ggtttcctga ggctcaagct ctaggactgg aggtgttcca
     1201 tgcaggcact gccctcaaaa atggcaaagt agtaactcat gggggtagag ttcttgcagt
     1261 cacagccatc cgggaaaatc tcatatcagc ccttgaggaa gccaagaaag gactagctgc
     1321 tataaagttt gagggagcaa tttataggaa agacgtcggc tttcgtgcca tagctttcct
     1381 ccagcagccc aggagtttga cttacaagga atctggagta gatatcgcag ctggaaatat
     1441 gctggtcaag aaaattcagc ctttagcaaa agccacttcc agatcaggct gtaaagttga
     1501 tcttggaggt tttgctggtc tttttgattt aaaagcagct ggtttcaaag atccccttct
     1561 ggcctctgga acagatggcg ttggaactaa actaaagatt gcccagctat gcaataaaca
     1621 tgataccatt ggtcaagatt tggtagcaat gtgtgttaat gatattctgg cacaaggagc
     1681 agagcccctc ttcttccttg attacttttc ctgtggaaaa cttgacctca gtgtaactga
     1741 agctgttgtt gctggaattg ctaaagcttg tggaaaagct ggatgtgctc tccttggagg
     1801 tgaaacagca gaaatgcctg acatgtatcc ccctggagag tatgacctag ctgggtttgc
     1861 cgttggtgcc atggagcgag atcagaaact ccctcacctg gaaagaatca ctgagggtga
     1921 tgttgttgtt ggaatagctt catctggtct tcatagcaat ggatttagcc ttgtgaggaa
     1981 aatcgtggca aaatcttccc tccagtactc ctctccagca cctgatggtt gtggtgacca
     2041 gactttaggg gacttacttc tcacgcctac cagaatctac agccattcac tgttacctgt
     2101 cctacgttca ggacatgtca aagcctttgc ccatattact ggtggaggat tactagagaa
     2161 catccccaga gtcctccctg agaaacttgg ggtagattta gatgcccaga cctggaggat
     2221 ccccagggtc ttctcatggt tgcagcagga aggacacctc tctgaggaag agatggccag
     2281 aacatttaac tgtggggttg gcgctgtcct tgtggtatca aaggagcaga cagagcagat
     2341 tctgagggat atccagcagc acaaggaaga agcctgggtg attggcagtg tggttgcacg
     2401 agctgaaggt tccccacgtg tgaaagtcaa gaatctgatt gaaagcatgc aaataaatgg
     2461 gtcagtgttg aagaatggct ccctgacaaa tcatttctct tttgaaaaaa aaaaggccag
     2521 agtggctgtc ttaatatctg gaacaggatc gaacctgcaa gcacttatag acagtactcg
     2581 ggaaccaaat agctctgcac aaattgatat tgttatctcc aacaaagccg cagtagctgg
     2641 gttagataaa gcggaaagag ctggtattcc cactagagta attaatcata aactgtataa
     2701 aaatcgtgta gaatttgaca gtgcaattga cctagtcctt gaagagttct ccatagacat
     2761 agtctgtctt gcaggattca tgagaattct ttctggcccc tttgtccaaa agtggaatgg
     2821 aaaaatgctc aatatccacc catccttgct cccttctttt aagggttcaa atgcccatga
     2881 gcaagccctg gaaaccggag tcacagttac tgggtgcact gtacactttg tagctgaaga
     2941 tgtggatgct ggacagatta ttttgcaaga agctgttccc gtgaagaggg gtgatactgt
     3001 cgcaactctt tctgaaagag taaaattagc agaacataaa atatttcctg cagcccttca
     3061 gctggtggcc agtggaactg tacagcttgg agaaaatggc aagatctgtt gggttaaaga
     3121 ggaatgaagc cttttaattc agaaatgggg ccagtttaga aagaattatt tgctgtttgc
     3181 atggtggttt tttatcatgg acttggccca aaagaaaaac tgctaaaaga caaaaaagac
     3241 ctcaccctta cttcatctat ttttttaata aatagagact cactaaaaac aagactagtt
     3301 agtgcagcat atctgaga
//
LOCUS       NM_000820               2508 bp    mRNA    linear   PRI 13-JUL-2023
DEFINITION  Homo sapiens growth arrest specific 6 (GAS6), mRNA.
ACCESSION   NM_000820
VERSION     NM_000820.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2508)
  AUTHORS   Mohammadzadeh P and Amberg GC.
  TITLE     AXL/Gas6 signaling mechanisms in the hypothalamic-pituitary-gonadal
            axis
  JOURNAL   Front Endocrinol (Lausanne) 14, 1212104 (2023)
   PUBMED   37396176
  REMARK    GeneRIF: AXL/Gas6 signaling mechanisms in the
            hypothalamic-pituitary-gonadal axis. Review article Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 2508)
  AUTHORS   Yao Z, Qi W, Zhang H, Zhang Z, Liu L, Shao Y, Zeng H, Yin J, Pan H,
            Guo X, Liu A, Cai D, Bai X and Zhang H.
  TITLE     Down-regulated GAS6 impairs synovial macrophage efferocytosis and
            promotes obesity-associated osteoarthritis
  JOURNAL   Elife 12, e83069 (2023)
   PUBMED   37144868
  REMARK    GeneRIF: Down-regulated GAS6 impairs synovial macrophage
            efferocytosis and promotes obesity-associated osteoarthritis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2508)
  AUTHORS   Kosta A, Mekhloufi A, Lucantonio L, Zingoni A, Soriani A, Cippitelli
            M, Gismondi A, Fazio F, Petrucci MT, Santoni A, Stabile H and Fionda
            C.
  TITLE     GAS6/TAM signaling pathway controls MICA expression in multiple
            myeloma cells
  JOURNAL   Front Immunol 13, 942640 (2022)
   PUBMED   35967396
  REMARK    GeneRIF: GAS6/TAM signaling pathway controls MICA expression in
            multiple myeloma cells. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2508)
  AUTHORS   Huang Y, Zhang Y and Zhang L.
  TITLE     Expression levels of serum mir-145-5p and Gas6 in women with
            early-onset preeclampsia and their clinical significance
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 68 (1), 209-216 (2022)
   PUBMED   35809311
  REMARK    GeneRIF: Expression levels of serum mir-145-5p and Gas6 in women
            with early-onset preeclampsia and their clinical significance.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2508)
  AUTHORS   Laurance S, Lemarie CA and Blostein MD.
  TITLE     Growth arrest-specific gene 6 (gas6) and vascular hemostasis
  JOURNAL   Adv Nutr 3 (2), 196-203 (2012)
   PUBMED   22516727
  REMARK    Review article Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2508)
  AUTHORS   Saccone S, Marcandalli P, Gostissa M, Schneider C and Della Valle G.
  TITLE     Assignment of the human GAS6 gene to chromosome 13q34 by
            fluorescence in situ hybridization
  JOURNAL   Genomics 30 (1), 129-131 (1995)
   PUBMED   8595896
REFERENCE   7  (bases 1 to 2508)
  AUTHORS   Godowski PJ, Mark MR, Chen J, Sadick MD, Raab H and Hammonds RG.
  TITLE     Reevaluation of the roles of protein S and Gas6 as ligands for the
            receptor tyrosine kinase Rse/Tyro 3
  JOURNAL   Cell 82 (3), 355-358 (1995)
   PUBMED   7634325
REFERENCE   8  (bases 1 to 2508)
  AUTHORS   Stitt TN, Conn G, Gore M, Lai C, Bruno J, Radziejewski C, Mattsson
            K, Fisher J, Gies DR, Jones PF et al.
  TITLE     The anticoagulation factor protein S and its relative, Gas6, are
            ligands for the Tyro 3/Axl family of receptor tyrosine kinases
  JOURNAL   Cell 80 (4), 661-670 (1995)
   PUBMED   7867073
REFERENCE   9  (bases 1 to 2508)
  AUTHORS   Varnum BC, Young C, Elliott G, Garcia A, Bartley TD, Fridell YW,
            Hunt RW, Trail G, Clogston C, Toso RJ et al.
  TITLE     Axl receptor tyrosine kinase stimulated by the vitamin K-dependent
            protein encoded by growth-arrest-specific gene 6
  JOURNAL   Nature 373 (6515), 623-626 (1995)
   PUBMED   7854420
REFERENCE   10  (bases 1 to 2508)
  AUTHORS   Manfioletti G, Brancolini C, Avanzi G and Schneider C.
  TITLE     The protein encoded by a growth arrest-specific gene (gas6) is a new
            member of the vitamin K-dependent proteins related to protein S, a
            negative coregulator in the blood coagulation cascade
  JOURNAL   Mol Cell Biol 13 (8), 4976-4985 (1993)
   PUBMED   8336730
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279841.6559.1, BC030708.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000327773.7/ ENSP00000331831.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY038614.1, BC038984.1 and
            AA045119.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000820.3.
            Summary: This gene encodes a gamma-carboxyglutamic acid
            (Gla)-containing protein thought to be involved in the stimulation
            of cell proliferation. This gene is frequently overexpressed in
            many cancers and has been implicated as an adverse prognostic
            marker. Elevated protein levels are additionally associated with a
            variety of disease states, including venous thromboembolic disease,
            systemic lupus erythematosus, chronic renal failure, and
            preeclampsia. [provided by RefSeq, Aug 2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2508
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     gene            1..2508
                     /gene="GAS6"
                     /gene_synonym="AXLLG; AXSF"
                     /note="growth arrest specific 6"
                     /db_xref="GeneID:2621"
                     /db_xref="HGNC:HGNC:4168"
                     /db_xref="MIM:600441"
     misc_feature    52..54
                     /gene="GAS6"
                     /gene_synonym="AXLLG; AXSF"
                     /note="upstream in-frame stop codon"
     CDS             157..2193
                     /gene="GAS6"
                     /gene_synonym="AXLLG; AXSF"
                     /note="AXL stimulatory factor; growth arrest-specific
                     protein 6; AXL receptor tyrosine kinase ligand"
                     /codon_start=1
                     /product="growth arrest-specific protein 6 precursor"
                     /protein_id="NP_000811.1"
                     /db_xref="CCDS:CCDS45072.1"
                     /db_xref="GeneID:2621"
                     /db_xref="HGNC:HGNC:4168"
                     /db_xref="MIM:600441"
                     /translation="MAPSLSPGPAALRRAPQLLLLLLAAECALAALLPAREATQFLRPR
                     QRRAFQVFEEAKQGHLERECVEELCSREEAREVFENDPETDYFYPRYLDCINKYGSPYT
                     KNSGFATCVQNLPDQCTPNPCDRKGTQACQDLMGNFFCLCKAGWGGRLCDKDVNECSQE
                     NGGCLQICHNKPGSFHCSCHSGFELSSDGRTCQDIDECADSEACGEARCKNLPGSYSCL
                     CDEGFAYSSQEKACRDVDECLQGRCEQVCVNSPGSYTCHCDGRGGLKLSQDMDTCEDIL
                     PCVPFSVAKSVKSLYLGRMFSGTPVIRLRFKRLQPTRLVAEFDFRTFDPEGILLFAGGH
                     QDSTWIVLALRAGRLELQLRYNGVGRVTSSGPVINHGMWQTISVEELARNLVIKVNRDA
                     VMKIAVAGDLFQPERGLYHLNLTVGGIPFHEKDLVQPINPRLDGCMRSWNWLNGEDTTI
                     QETVKVNTRMQCFSVTERGSFYPGSGFAFYSLDYMRTPLDVGTESTWEVEVVAHIRPAA
                     DTGVLFALWAPDLRAVPLSVALVDYHSTKKLKKQLVVLAVEHTALALMEIKVCDGQEHV
                     VTVSLRDGEATLEVDGTRGQSEVSAAQLQERLAVLERHLRSPVLTFAGGLPDVPVTSAP
                     VTAFYRGCMTLEVNRRLLDLDEAAYKHSDITAHSCPPVEPAAA"
     sig_peptide     157..246
                     /gene="GAS6"
                     /gene_synonym="AXLLG; AXSF"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    367..369
                     /gene="GAS6"
                     /gene_synonym="AXLLG; AXSF"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (Q14393.3); phosphorylation site"
     misc_feature    1414..1416
                     /gene="GAS6"
                     /gene_synonym="AXLLG; AXSF"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16362042; propagated from
                     UniProtKB/Swiss-Prot (Q14393.3); glycosylation site"
     misc_feature    2017..2019
                     /gene="GAS6"
                     /gene_synonym="AXLLG; AXSF"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q63772; propagated from
                     UniProtKB/Swiss-Prot (Q14393.3); phosphorylation site"
     misc_feature    2065..2067
                     /gene="GAS6"
                     /gene_synonym="AXLLG; AXSF"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q63772; propagated from
                     UniProtKB/Swiss-Prot (Q14393.3); phosphorylation site"
     misc_feature    2074..2076
                     /gene="GAS6"
                     /gene_synonym="AXLLG; AXSF"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q63772; propagated from
                     UniProtKB/Swiss-Prot (Q14393.3); phosphorylation site"
     regulatory      2481..2486
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GAS6"
                     /gene_synonym="AXLLG; AXSF"
                     /note="hexamer: AATAAA"
     polyA_site      2508
                     /gene="GAS6"
                     /gene_synonym="AXLLG; AXSF"
                     /note="major polyA site"
ORIGIN
        1 agaccgagcg cttgaggtgc cgcagccgcc gccgccgccg ccgccgcgat gtgaccttca
       61 gggccgccag gacgggatga ccggagcctc cgccccgcgg cgcccgcggc tcgcctcggc
      121 ctcccgggcg ctctgaccgc gcgtccccgg cccgccatgg ccccttcgct ctcgcccggg
      181 cccgccgccc tgcgccgcgc gccgcagctg ctgctgctgc tgctggccgc ggagtgcgcg
      241 cttgccgcgc tgttgccggc gcgcgaggcc acgcagttcc tgcggcccag gcagcgccgc
      301 gcctttcagg tcttcgagga ggccaagcag ggccacctgg agagggagtg cgtggaggag
      361 ctgtgcagcc gcgaggaggc gcgggaggtg ttcgagaacg accccgagac ggattatttt
      421 tacccaagat acttagactg catcaacaag tatgggtctc cgtacaccaa aaactcaggc
      481 ttcgccacct gcgtgcaaaa cctgcctgac cagtgcacgc ccaacccctg cgataggaag
      541 gggacccaag cctgccagga cctcatgggc aacttcttct gcctgtgtaa agctggctgg
      601 gggggccggc tctgcgacaa agatgtcaac gaatgcagcc aggagaacgg gggctgcctc
      661 cagatctgcc acaacaagcc gggtagcttc cactgttcct gccacagcgg cttcgagctc
      721 tcctctgatg gcaggacctg ccaagacata gacgagtgcg cagactcgga ggcctgcggg
      781 gaggcgcgct gcaagaacct gcccggctcc tactcctgcc tctgtgacga gggctttgcg
      841 tacagctccc aggagaaggc ttgccgagat gtggacgagt gtctgcaggg ccgctgtgag
      901 caggtctgcg tgaactcccc agggagctac acctgccact gtgacgggcg tgggggcctc
      961 aagctgtccc aggacatgga cacctgtgag gacatcttgc cgtgcgtgcc cttcagcgtg
     1021 gccaagagtg tgaagtcctt gtacctgggc cggatgttca gtgggacccc cgtgatccga
     1081 ctgcgcttca agaggctgca gcccaccagg ctggtagctg agtttgactt ccggaccttt
     1141 gaccccgagg gcatcctcct ctttgccgga ggccaccagg acagcacctg gatcgtgctg
     1201 gccctgagag ccggccggct ggagctgcag ctgcgctaca acggtgtcgg ccgtgtcacc
     1261 agcagcggcc cggtcatcaa ccatggcatg tggcagacaa tctctgttga ggagctggcg
     1321 cggaatctgg tcatcaaggt caacagggat gctgtcatga aaatcgcggt ggccggggac
     1381 ttgttccaac cggagcgagg actgtatcat ctgaacctga ccgtgggagg tattcccttc
     1441 catgagaagg acctcgtgca gcctataaac cctcgtctgg atggctgcat gaggagctgg
     1501 aactggctga acggagaaga caccaccatc caggaaacgg tgaaagtgaa cacgaggatg
     1561 cagtgcttct cggtgacgga gagaggctct ttctaccccg ggagcggctt cgccttctac
     1621 agcctggact acatgcggac ccctctggac gtcgggactg aatcaacctg ggaagtagaa
     1681 gtcgtggctc acatccgccc agccgcagac acaggcgtgc tgtttgcgct ctgggccccc
     1741 gacctccgtg ccgtgcctct ctctgtggca ctggtagact atcactccac gaagaaactc
     1801 aagaagcagc tggtggtcct ggccgtggag catacggcct tggccctaat ggagatcaag
     1861 gtctgcgacg gccaagagca cgtggtcacc gtctcgctga gggacggtga ggccaccctg
     1921 gaggtggacg gcaccagggg ccagagcgag gtgagcgccg cgcagctgca ggagaggctg
     1981 gccgtgctcg agaggcacct gcggagcccc gtgctcacct ttgctggcgg cctgccagat
     2041 gtgccggtga cttcagcgcc agtcaccgcg ttctaccgcg gctgcatgac actggaggtc
     2101 aaccggaggc tgctggacct ggacgaggcg gcgtacaagc acagcgacat cacggcccac
     2161 tcctgccccc ccgtggagcc cgccgcagcc taggccccca cgggacgcgg caggcttctc
     2221 agtctctgtc cgagacagcc gggaggagcc tgggggctcc tcaccacgtg gggccatgct
     2281 gagagctggg ctttcctctg tgaccatccc ggcctgtaac atatctgtaa atagtgagat
     2341 ggacttgggg cctctgacgc cgcgcactca gccgtgggcc cgggcgcggg gaggccggcg
     2401 cagcgcagag cgggctcgaa gaaaataatt ctctattatt tttattacca agcgcttctt
     2461 tctgactcta aaatatggaa aataaaatat ttacagaaag ctttgtaa
//
LOCUS       NM_000821               7556 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant
            1, mRNA.
ACCESSION   NM_000821
VERSION     NM_000821.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7556)
  AUTHORS   Shen G, Liu H, Shen Y and Xi S.
  TITLE     [Partial research progress of GGCX pathogenic variation associated
            phenotypes]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 39 (6), 646-650 (2022)
   PUBMED   35773773
  REMARK    GeneRIF: [Partial research progress of GGCX pathogenic variation
            associated phenotypes].
REFERENCE   2  (bases 1 to 7556)
  AUTHORS   Ghosh S, Kraus K, Biswas A, Muller J, Forin F, Singer H, Honing K,
            Hornung V, Watzka M, Oldenburg J and Czogalla-Nitsche KJ.
  TITLE     GGCX variants leading to biallelic deficiency to gamma-carboxylate
            GRP cause skin laxity in VKCFD1 patients
  JOURNAL   Hum Mutat 43 (1), 42-55 (2022)
   PUBMED   34816548
  REMARK    GeneRIF: GGCX variants leading to biallelic deficiency to
            gamma-carboxylate GRP cause skin laxity in VKCFD1 patients.
REFERENCE   3  (bases 1 to 7556)
  AUTHORS   Hao Z, Jin DY, Chen X, Schurgers LJ, Stafford DW and Tie JK.
  TITLE     gamma-Glutamyl carboxylase mutations differentially affect the
            biological function of vitamin K-dependent proteins
  JOURNAL   Blood 137 (4), 533-543 (2021)
   PUBMED   33507293
  REMARK    GeneRIF: gamma-Glutamyl carboxylase mutations differentially affect
            the biological function of vitamin K-dependent proteins.
REFERENCE   4  (bases 1 to 7556)
  AUTHORS   Schmidt-Krey I, Haase W, Mutucumarana V, Stafford DW and Kuhlbrandt
            W.
  TITLE     Two-dimensional crystallization of human vitamin K-dependent
            gamma-glutamyl carboxylase
  JOURNAL   J Struct Biol 157 (2), 437-442 (2007)
   PUBMED   16979907
  REMARK    GeneRIF: Crystallization of human GGCX.
REFERENCE   5  (bases 1 to 7556)
  AUTHORS   Wu SM, Stafford DW, Frazier LD, Fu YY, High KA, Chu K, Sanchez-Vega
            B and Solera J.
  TITLE     Genomic sequence and transcription start site for the human
            gamma-glutamyl carboxylase
  JOURNAL   Blood 89 (11), 4058-4062 (1997)
   PUBMED   9166845
REFERENCE   6  (bases 1 to 7556)
  AUTHORS   Kuo WL, Stafford DW, Cruces J, Gray J and Solera J.
  TITLE     Chromosomal localization of the gamma-glutamyl carboxylase gene at
            2p12
  JOURNAL   Genomics 25 (3), 746-748 (1995)
   PUBMED   7759116
REFERENCE   7  (bases 1 to 7556)
  AUTHORS   Zhang L, Jhingan A and Castellino FJ.
  TITLE     Role of individual gamma-carboxyglutamic acid residues of activated
            human protein C in defining its in vitro anticoagulant activity
  JOURNAL   Blood 80 (4), 942-952 (1992)
   PUBMED   1498334
REFERENCE   8  (bases 1 to 7556)
  AUTHORS   Wu SM, Cheung WF, Frazier D and Stafford DW.
  TITLE     Cloning and expression of the cDNA for human gamma-glutamyl
            carboxylase
  JOURNAL   Science 254 (5038), 1634-1636 (1991)
   PUBMED   1749935
REFERENCE   9  (bases 1 to 7556)
  AUTHORS   Brenner B, Tavori S, Zivelin A, Keller CB, Suttie JW, Tatarsky I and
            Seligsohn U.
  TITLE     Hereditary deficiency of all vitamin K-dependent procoagulants and
            anticoagulants
  JOURNAL   Br J Haematol 75 (4), 537-542 (1990)
   PUBMED   2145029
REFERENCE   10  (bases 1 to 7556)
  AUTHORS   Borowski,M., Furie,B.C. and Furie,B.
  TITLE     Distribution of gamma-carboxyglutamic acid residues in partially
            carboxylated human prothrombins
  JOURNAL   J Biol Chem 261 (4), 1624-1628 (1986)
   PUBMED   3944102
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK225663.1, AK222827.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000233838.9/ ENSP00000233838.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC296316.1, BC013979.2,
            AC016753.9, BM974022.1 and BQ000150.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000821.6.
            Summary: This gene encodes an integral membrane protein of the
            rough endoplasmic reticulum that carboxylates glutamate residues of
            vitamin K-dependent proteins to gamma carboxyl glutamate, a
            modification that is required for their activity. The vitamin
            K-dependent protein substrates have a propeptide that binds the
            enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting
            as co-substrates. Vitamin K-dependent proteins affect a number of
            physiologic processes including blood coagulation, prevention of
            vascular calcification, and inflammation. Allelic variants of this
            gene have been associated with pseudoxanthoma elasticum-like
            disorder with associated multiple coagulation factor deficiency.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Aug 2015].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7556
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..7556
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="gamma-glutamyl carboxylase"
                     /db_xref="GeneID:2677"
                     /db_xref="HGNC:HGNC:4247"
                     /db_xref="MIM:137167"
     misc_feature    39..41
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="upstream in-frame stop codon"
     CDS             66..2342
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /EC_number="4.1.1.90"
                     /note="isoform 1 is encoded by transcript variant 1;
                     vitamin K-dependent gamma-carboxylase; peptidyl-glutamate
                     4-carboxylase"
                     /codon_start=1
                     /product="vitamin K-dependent gamma-carboxylase isoform 1"
                     /protein_id="NP_000812.2"
                     /db_xref="CCDS:CCDS1978.1"
                     /db_xref="GeneID:2677"
                     /db_xref="HGNC:HGNC:4247"
                     /db_xref="MIM:137167"
                     /translation="MAVSAGSARTSPSSDKVQKDKAELISGPRQDSRIGKLLGFEWTDL
                     SSWRRLVTLLNRPTDPASLAVFRFLFGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLL
                     DALRPLPLDWMYLVYTIMFLGALGMMLGLCYRISCVLFLLPYWYVFLLDKTSWNNHSYL
                     YGLLAFQLTFMDANHYWSVDGLLNAHRRNAHVPLWNYAVLRGQIFIVYFIAGVKKLDAD
                     WVEGYSMEYLSRHWLFSPFKLLLSEELTSLLVVHWGGLLLDLSAGFLLFFDVSRSIGLF
                     FVSYFHCMNSQLFSIGMFSYVMLASSPLFCSPEWPRKLVSYCPRRLQQLLPLKAAPQPS
                     VSCVYKRSRGKSGQKPGLRHQLGAAFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSW
                     DMMVHSRSHQHVKITYRDGRTGELGYLNPGVFTQSRRWKDHADMLKQYATCLSRLLPKY
                     NVTEPQIYFDIWVSINDRFQQRIFDPRVDIVQAAWSPFQRTSWVQPLLMDLSPWRAKLQ
                     EIKSSLDNHTEVVFIADFPGLHLENFVSEDLGNTSIQLLQGEVTVELVAEQKNQTLREG
                     EKMQLPAGEYHKVYTTSPSPSCYMYVYVNTTELALEQDLAYLQELKEKVENGSETGPLP
                     PELQPLLEGEVKGGPEPTPLVQTFLRRQQRLQEIERRRNTPFHERFFRFLLRKLYVFRR
                     SFLMTCISLRNLILGRPSLEQLAQEVTYANLRPFEAVGELNPSNTDSSHSNPPESNPDP
                     VHSEF"
     misc_feature    66..131
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P38435.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    69..71
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P38435.2); acetylation site"
     misc_feature    246..308
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P38435.2);
                     transmembrane region"
     misc_feature    405..467
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P38435.2);
                     transmembrane region"
     misc_feature    474..536
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P38435.2);
                     transmembrane region"
     misc_feature    942..1004
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P38435.2);
                     transmembrane region"
     misc_feature    1149..1211
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P38435.2);
                     transmembrane region"
     misc_feature    1440..1442
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P38435.2); glycosylation site"
     misc_feature    1713..1715
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P38435.2); glycosylation site"
     misc_feature    2259..2339
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P38435.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     polyA_site      2423
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="major polyA site"
     regulatory      3184..3189
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="hexamer: ATTAAA"
     polyA_site      3206
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="major polyA site"
     regulatory      7536..7541
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="hexamer: AATAAA"
     polyA_site      7556
                     /gene="GGCX"
                     /gene_synonym="VKCFD1"
                     /note="major polyA site"
ORIGIN
        1 aaattctcct ggcggcctcc gttcagacgc ggcagctgtg acccacctgc ctcctccgca
       61 gagcaatggc ggtgtctgcc gggtccgcgc ggacctcgcc cagctcagat aaagtacaga
      121 aagacaaggc tgaactgatc tcagggccca ggcaggacag ccgaataggg aaactcttgg
      181 gttttgagtg gacagatttg tccagttggc ggaggctggt gaccctgctg aatcgaccaa
      241 cggaccctgc aagcttagct gtctttcgtt ttctttttgg gttcttgatg gtgctagaca
      301 ttccccagga gcgggggctc agctctctgg accggaaata ccttgatggg ctggatgtgt
      361 gccgcttccc cttgctggat gccctacgcc cactgccact tgactggatg tatcttgtct
      421 acaccatcat gtttctgggg gcactgggca tgatgctggg cctgtgctac cggataagct
      481 gtgtgttatt cctgctgcca tactggtatg tgtttctcct ggacaagaca tcatggaaca
      541 accactccta tctgtatggg ttgttggcct ttcagctaac attcatggat gcaaaccact
      601 actggtctgt ggacggtctg ctgaatgccc ataggaggaa tgcccacgtg cccctttgga
      661 actatgcagt gctccgtggc cagatcttca ttgtgtactt cattgcgggt gtgaaaaagc
      721 tggatgcaga ctgggttgaa ggctattcca tggaatattt gtcccggcac tggctcttca
      781 gtcccttcaa actgctgttg tctgaggagc tgactagcct gctggtcgtg cactggggtg
      841 ggctgctgct tgacctctca gctggtttcc tgctcttttt tgatgtctca agatccattg
      901 gcctgttctt tgtgtcctac ttccactgca tgaattccca gcttttcagc attggtatgt
      961 tctcctacgt catgctggcc agcagccctc tcttctgctc ccctgagtgg cctcggaagc
     1021 tggtgtccta ctgcccccga aggttgcaac aactgttgcc cctcaaggca gcccctcagc
     1081 ccagtgtttc ctgtgtgtat aagaggagcc ggggcaaaag tggccagaag ccagggctgc
     1141 gccatcagct gggagctgcc ttcaccctgc tctacctcct ggagcagcta ttcctgccct
     1201 attctcattt tctcacccag ggctataaca actggacaaa tgggctgtat ggctattcct
     1261 gggacatgat ggtgcactcc cgctcccacc agcacgtgaa gatcacctac cgtgatggcc
     1321 gcactggcga actgggctac cttaaccctg gggtatttac acagagtcgg cgatggaagg
     1381 atcatgcaga catgctgaag caatatgcca cttgcctgag ccgcctgctt cccaagtata
     1441 atgtcactga gccccagatc tactttgata tttgggtctc catcaatgac cgcttccagc
     1501 agaggatttt tgaccctcgt gtggacatcg tgcaggccgc ttggtcaccc tttcagcgca
     1561 catcctgggt gcaaccactc ttgatggacc tgtctccctg gagggccaag ttacaggaaa
     1621 tcaagagcag cctagacaac cacactgagg tggtcttcat tgcagatttc cctggactgc
     1681 acttggagaa ttttgtgagt gaagacctgg gcaacactag catccagctg ctgcaggggg
     1741 aagtgactgt ggagcttgtg gcagaacaga agaaccagac tcttcgagag ggagaaaaaa
     1801 tgcagttgcc tgctggtgag taccataagg tgtatacgac atcacctagc ccttcttgct
     1861 acatgtacgt ctatgtcaac actacagagc ttgcactgga gcaagacctg gcatatctgc
     1921 aagaattaaa ggaaaaggtg gagaatggaa gtgaaacagg gcctctaccc ccagagctgc
     1981 agcctctgtt ggaaggggaa gtaaaagggg gccctgagcc aacacctctg gttcagacct
     2041 ttcttagacg ccaacaaagg ctccaggaga ttgaacgccg gcgaaatact cctttccatg
     2101 agcgattctt ccgcttcttg ttgcgaaagc tctatgtctt tcgccgcagc ttcctgatga
     2161 cttgtatctc acttcgaaat ctgatattag gccgtccttc cctggagcag ctggcccagg
     2221 aggtgactta tgcaaacttg agaccctttg aggcagttgg agaactgaat ccctcaaaca
     2281 cggattcttc acattctaat cctcctgagt caaatcctga tcctgtccac tcagagttct
     2341 gaagggggcc agatgttggg tgcagatgta gaagcagcca gtcacagacc cattctatgc
     2401 aatggacatt tatttgaaaa aaattctcaa aagttttttt tttttttttg ggggggcggg
     2461 gttctaaagc tgtttttaac tccgagatta caacttagag gaaccaagga aataaagcaa
     2521 ataagattta acaacccaag attaagaggc caggaagagg ttagacgcaa tgtgaaactg
     2581 tcctcctagg ataaggttta aagtggcttt ttgggggctg ggtgccgtgg ctcacgcctg
     2641 taatcccagc attttgggag gctgaggtgg gcagatcact tgaggccagg agttcgagac
     2701 cagcctggcc aacatggcaa aaccccttct ctactaaaaa tacaaaaatt agccagacgt
     2761 ggtggtgggt gcctgtaatc caactaccca ggaggctgag gcatgagaat cgcttgggcc
     2821 caggaggtgg aggttgcagt gagccgagat cgagccactg cactcctggg caacagagca
     2881 agacttcgtc tcaaaataaa taaataaagt ggctcttggg gaaaagcaat ttaatgtacc
     2941 acgatgaata gctaactgtt cccaagtgtt tgctatgtgc aacacaccgc gtgagcagtg
     3001 ttacctgcat tattacatta ggctgagagg taaaataatt tgcccgaaga catacagcta
     3061 gtgacgaatg gactgatggt ttgaacttaa cgtctatttg acttaaggtc ctgcaccctg
     3121 ccacttgtaa ttttcagaat cactgataat ctgaaataat gcagcttaaa acatgttttc
     3181 ttaattaaaa gtataattgg atggtggtca ggttgtaaat gcacacaaag taatttatct
     3241 tcattgcaat tttggttcct tctttgttcc tattatctat atacacccag tgtttcacta
     3301 gcagttatga gagcagtcag aatagcagca tcaaagttaa ataaggaaat ctagatgatt
     3361 gctagatttt ctctaaaaat aagcttagta tttggtatta ttctagcctt tggtgagcag
     3421 aaggggaggt aaagtaagaa ttaactaaat ttagtaaggg attagggaat gcttagacat
     3481 tttgtaggtt ggggtataca agggtaactc aggaagctcc tcagttcagt gaaaattcaa
     3541 agggttggca ctgagctagg aagcgagaat gcagggttat gaaaaaggat ccctgctttg
     3601 ggagctcatg gacttgtagc agagaccggt agtaaattgg cagtctcagt aacttctgta
     3661 aatgattgca tctctttgca ggcttctctt cccatactct cccccactcc tccttggaca
     3721 gtgttccggg ggttctttcc taagcaactg ctttttcagt atacatactt cagatgattg
     3781 tgtctactcc aggatttcca acgatgctag gtttctttcc tgtgccctag acgtataggt
     3841 ctaagttcca cctggatatc ccacagggct atcaagctca gttcatccta aacagaactt
     3901 acattcatcc ccaactcaga cttccttatt ctttattatt gaatggcagc tctgtacctt
     3961 agccaagctg ttatctctag gtcatcagcc ttgactcttc ctttttcctt gcatttctta
     4021 aaattgccaa gtcccatcaa ttttacctcc tggatacctc ttgaatctat ttttttttaa
     4081 agacagggtt tcactctatc acccaggctg gagttcagtg gcacaatctt ggcttactgc
     4141 agccaccacc tcctgggttt aaacgattct tccacttcag cctcccatgt agctgggact
     4201 acaggtgccc accaccacgc ccaactaatt tttgtatttt tagtagagac atggtttccc
     4261 acattggcca ggctggtctc aaactcatga ccttaagtat ccacctgcct tggcctccca
     4321 aagggctggg attacaggtg tgagccaccg tgcccagcca aatctgtttt cattactacc
     4381 tatatctgta ttttcaacct ttgtattagc atctagttag ggatagacca ggacagggcc
     4441 gacatgttag ttgtcaagca gattgccacc ctcccccacc actgaggagg ccaaatggag
     4501 tttggtggaa aatctctaat tcattcaagg tattatatgg gcaagcaatg gctgtggcac
     4561 agggtcccct gattactttg taagaatggg tgggagggat gctgattttc aatccttttg
     4621 cagatcttct ctcatagtaa cacaatagaa gatactttgc cactatgttg tttgccaaac
     4681 tcactgtacc tacttgactg gtaacaaaag tcccaagagt tacttgggag aagacacttg
     4741 aaaaagtatt tttctaaata tgggcaagga tgctgccctt ccccaaactg ttagtatacc
     4801 acctctctga ccaattttcc caaggaagat attggggtag ggtgaggtgt aaagaaaaag
     4861 tggtcatgta aatactggta ataaaagctg ttcagtgggg tagagttggg ttgcaactgt
     4921 agccattcta aaaatgggct atcaatgtcc ttttagccaa aagactttag tatacatcct
     4981 cctcattcta ccctcaggat ttggatcttt gcccctgatg ggtatccatc ccctttgaaa
     5041 ctttagaaag gcaggttata tacagaatgt tcaacctaaa gacatttcct taagtcatac
     5101 tttcatgctt tctaaactat aatcaccctt atcatcccct gctgttatgc tttccctctg
     5161 ctccctgtgg cctaatgttc ctccaccacc ttattaacct tcaggatact tttcccctag
     5221 gctgggcagg acaacactat ccccttggtc cacaagctcc ctcaaggttg gggaatcttt
     5281 gtttacttag caaatactga acataacctt aaagcggtta cttttgaaaa cttctcatgc
     5341 tattctacca acttggaggc acctatccat gctcattccc ctaatgtagc caatatggtt
     5401 atctgcaatg tattggcatc taaaaactcc cttatgaaac tgccagactt gttctggaac
     5461 atttcaatta catgcaaaat tcaggttctc aagttggaac aagtctaatt gacacacctg
     5521 cataggtttt aaccttgccc tccccctact tcccaacaga tttccaagtt ttttgagaag
     5581 gaaccttgct ctggcccagg ctggagtgca atggcgccat ctcggctcac tgcaacctct
     5641 gcctcctggg ttcaagtgat tctccagcct cctgagtagc tgggattaca agcacctgcc
     5701 accacaccca gcttttttgt atttttggta gagacggggt ttcagtttgc caggctggta
     5761 tcaaaccgtg acctcaggtg atccacccgc attagcctcc caaagtgctg ggattacagg
     5821 tgtaagctac catacccaga tttccacggc ttttttttta agtctcactc tgttaccctg
     5881 gccggagtgt ggtggcacga tttcagctca ctgcaagctc cacctcccgg gttcacgcca
     5941 ttctcctgcc tcggcctcct gagtagctgg gactacaggt gcctggctaa cttttttata
     6001 tttttagtag agacagggtt tcactgtgtt agccaggatg gtctcgtgat ctgcatgcct
     6061 tggcctccca aagtgctagg attataggct cacgcctata ttactatata gtggcctata
     6121 ttacaggcca ctccgcctgg cctccaaatt tccaagtttt taagtctcca tgcaaacagg
     6181 cataagcaag cactccttgg ctctacattt gcaggacaag ctggaccacc attcagatgt
     6241 tggtagaaat gtaatccaag tggctattct ctatgcatgt agctcctagg ttcaagagca
     6301 gtgtggtctg cggattttct acacaacctg ccataaatga aatttaagcc tttggaaatt
     6361 tatagcattt tcagctaatt tgcattattt atctctgcaa gatattgact agaaatcacg
     6421 tttcagaact tctcagatga aaacatcata caacccttaa aactaagctc ataatttaaa
     6481 aatgtatgca gattaatagg cttaaattgc caggacttta gatagacatt accacttcca
     6541 ggttaatact tttagcggtt tttatgcctt caatggtttg aagccctcaa ccttagttga
     6601 aaacttaaaa atggcattga atggctgctg caataaggac acatgaattt tggcttaagt
     6661 ggactaggag gactaaatct tgcttaggct tttaaaaaat gcccacccac tgggtctagg
     6721 gattgaggtt attttcctga attatggcta attatggatt acaattcaag gttaaagata
     6781 cacatatagt attctcaggt tattcatatg atagcatttt ttaagagcca aagtctcagt
     6841 cacccaggct ggagtgcagt ggcttgataa tggttcgcta cagcctccaa cttctatgtt
     6901 aaagtgatcc tcctacctca gcctttcaaa gtgttgggat tataggcacg tacctatggc
     6961 cccaaagcac tttaacaaat gagtaacaga cacagttaag gtagaaccta gcattttatt
     7021 tagatcttca ttaaactgtt ggaattgaga accagacata cgtaataaac ctccaaaaat
     7081 agatcctgaa aggcactttc tgcttagggc aagcagtcat ggaataagca tgtaaacaag
     7141 ctggcttctc tgtaccacac cagccaagtc agctttctcc atggccagcc gcaccagctc
     7201 tgccctccct tctgttaaca ccagccagac cccctgtagg tctaacccaa ggtttttctg
     7261 taggacacct tggcctacct gggaatgctg gaaacatgtt gttaaaggaa tcatggtgtt
     7321 gagagaaaaa aaaaaaatct tttaaaagct gccatctgag gtgatggctt ctctgtactt
     7381 acgccatacc ccagaataca ataaataagc aattagaaaa cgttcaagta tgaagggatt
     7441 tcctcctccc cgccaaaagc actgctctct gaaggaagct ggtttctctg tagctacacc
     7501 agctgttcag aaagctcatt ggacctggtt ttgaaaataa aacaaagtta aaaccc
//
LOCUS       NM_000823               1672 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens growth hormone releasing hormone receptor (GHRHR),
            mRNA.
ACCESSION   NM_000823
VERSION     NM_000823.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1672)
  AUTHORS   Szabo Z, Juhasz E, Schally AV, Dezso B, Huga S, Hernadi Z, Halmos G
            and Kiss C.
  TITLE     Expression of Growth Hormone-Releasing Hormone and Its Receptor
            Splice Variants in Primary Human Endometrial Carcinomas: Novel
            Therapeutic Approaches
  JOURNAL   Molecules 27 (9), 2671 (2022)
   PUBMED   35566020
  REMARK    GeneRIF: Expression of Growth Hormone-Releasing Hormone and Its
            Receptor Splice Variants in Primary Human Endometrial Carcinomas:
            Novel Therapeutic Approaches. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1672)
  AUTHORS   Kiaris H, Schally AV, Busto R, Halmos G, Artavanis-Tsakonas S and
            Varga JL.
  TITLE     Expression of a splice variant of the receptor for GHRH in 3T3
            fibroblasts activates cell proliferation responses to GHRH analogs
  JOURNAL   Proc Natl Acad Sci U S A 99 (1), 196-200 (2002)
   PUBMED   11773624
  REMARK    GeneRIF: To ascertain whether (splice variant) SV1 mediates
            mitogenic effects on nonpituitary tissues, we expressed SV1 in 3T3
            mouse fibroblasts and studied the properties of the transfected
            cells
REFERENCE   3  (bases 1 to 1672)
  AUTHORS   Rekasi Z, Czompoly T, Schally AV and Halmos G.
  TITLE     Isolation and sequencing of cDNAs for splice variants of growth
            hormone-releasing hormone receptors from human cancers
  JOURNAL   Proc Natl Acad Sci U S A 97 (19), 10561-10566 (2000)
   PUBMED   10962031
REFERENCE   4  (bases 1 to 1672)
  AUTHORS   Maheshwari HG, Silverman BL, Dupuis J and Baumann G.
  TITLE     Phenotype and genetic analysis of a syndrome caused by an
            inactivating mutation in the growth hormone-releasing hormone
            receptor: Dwarfism of Sindh
  JOURNAL   J Clin Endocrinol Metab 83 (11), 4065-4074 (1998)
   PUBMED   9814493
REFERENCE   5  (bases 1 to 1672)
  AUTHORS   Petersenn S, Rasch AC, Heyens M and Schulte HM.
  TITLE     Structure and regulation of the human growth hormone-releasing
            hormone receptor gene
  JOURNAL   Mol Endocrinol 12 (2), 233-247 (1998)
   PUBMED   9482665
REFERENCE   6  (bases 1 to 1672)
  AUTHORS   Wajnrajch MP, Gertner JM, Harbison MD, Chua SC Jr and Leibel RL.
  TITLE     Nonsense mutation in the human growth hormone-releasing hormone
            receptor causes growth failure analogous to the little (lit) mouse
  JOURNAL   Nat Genet 12 (1), 88-90 (1996)
   PUBMED   8528260
REFERENCE   7  (bases 1 to 1672)
  AUTHORS   Hashimoto K, Koga M, Motomura T, Kasayama S, Kouhara H, Ohnishi T,
            Arita N, Hayakawa T, Sato B and Kishimoto T.
  TITLE     Identification of alternatively spliced messenger ribonucleic acid
            encoding truncated growth hormone-releasing hormone receptor in
            human pituitary adenomas
  JOURNAL   J Clin Endocrinol Metab 80 (10), 2933-2939 (1995)
   PUBMED   7559877
REFERENCE   8  (bases 1 to 1672)
  AUTHORS   Tang J, Lagace G, Castagne J and Collu R.
  TITLE     Identification of human growth hormone-releasing hormone receptor
            splicing variants
  JOURNAL   J Clin Endocrinol Metab 80 (8), 2381-2387 (1995)
   PUBMED   7629234
REFERENCE   9  (bases 1 to 1672)
  AUTHORS   Gaylinn BD, von Kap-Herr C, Golden WL and Thorner MO.
  TITLE     Assignment of the human growth hormone-releasing hormone receptor
            gene (GHRHR) to 7p14 by in situ hybridization
  JOURNAL   Genomics 19 (1), 193-195 (1994)
   PUBMED   8188233
REFERENCE   10  (bases 1 to 1672)
  AUTHORS   Mayo KE.
  TITLE     Molecular cloning and expression of a pituitary-specific receptor
            for growth hormone-releasing hormone
  JOURNAL   Mol Endocrinol 6 (10), 1734-1744 (1992)
   PUBMED   1333056
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L09237.1, L01406.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000326139.7/ ENSP00000320180.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005155.1 and L09237.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000823.3.
            Summary: This gene encodes a receptor for growth hormone-releasing
            hormone. Binding of this hormone to the receptor leads to synthesis
            and release of growth hormone. Mutations in this gene have been
            associated with isolated growth hormone deficiency (IGHD), also
            known as Dwarfism of Sindh, a disorder characterized by short
            stature. [provided by RefSeq, Jun 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1672
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..1672
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /note="growth hormone releasing hormone receptor"
                     /db_xref="GeneID:2692"
                     /db_xref="HGNC:HGNC:4266"
                     /db_xref="MIM:139191"
     CDS             117..1388
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /note="GRF receptor; GHRH receptor"
                     /codon_start=1
                     /product="growth hormone-releasing hormone receptor
                     precursor"
                     /protein_id="NP_000814.2"
                     /db_xref="CCDS:CCDS5432.1"
                     /db_xref="GeneID:2692"
                     /db_xref="HGNC:HGNC:4266"
                     /db_xref="MIM:139191"
                     /translation="MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAA
                     EEMPNTTLGCPATWDGLLCWPTAGSGEWVTLPCPDFFSHFSSESGAVKRDCTITGWSEP
                     FPPYPVACPVPLELLAEEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCPRNY
                     VHTQLFTTFILKAGAVFLKDAALFHSDDTDHCSFSTVLCKVSVAASHFATMTNFSWLLA
                     EAVYLNCLLASTSPSSRRAFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPY
                     WWIIKGPIVLSVGVNFGLFLNIIRILVRKLEPAQGSLHTQSQYWRLSKSTLFLIPLFGI
                     HYIIFNFLPDNAGLGIRLPLELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELL
                     PAWRTRAKWTTPSRSAAKVLTSMC"
     sig_peptide     117..182
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     183..1385
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /product="Growth hormone-releasing hormone receptor.
                     /id=PRO_0000012828"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02643.2)"
     misc_feature    264..266
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q02643.2); glycosylation site"
     misc_feature    507..569
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02643.2);
                     transmembrane region"
     misc_feature    618..680
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02643.2);
                     transmembrane region"
     misc_feature    747..809
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02643.2);
                     transmembrane region"
     misc_feature    837..899
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02643.2);
                     transmembrane region"
     misc_feature    966..1028
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02643.2);
                     transmembrane region"
     misc_feature    1110..1172
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02643.2);
                     transmembrane region"
     misc_feature    1188..1250
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02643.2);
                     transmembrane region"
     regulatory      1655..1660
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /note="hexamer: AATAAA"
     polyA_site      1672
                     /gene="GHRHR"
                     /gene_synonym="GHRFR; GRFR; IGHD1B; IGHD4"
                     /note="major polyA site"
ORIGIN
        1 acctgagaag gggaagcaga gggtgcggtg gaaacggctg tgtcagggga cagcagggga
       61 aggaagatag ccaaggctta ctgaggctgg tggagggagc cactgctggg ctcaccatgg
      121 accgccggat gtggggggcc cacgtcttct gcgtgttgag cccgttaccg accgtattgg
      181 gccacatgca cccagaatgt gacttcatca cccagctgag agaggatgag agtgcctgtc
      241 tacaagcagc agaggagatg cccaacacca ccctgggctg ccctgcgacc tgggatgggc
      301 tgctgtgctg gccaacggca ggctctggcg agtgggtcac cctcccctgc ccggatttct
      361 tctctcactt cagctcagag tcaggggctg tgaaacggga ttgtactatc actggctggt
      421 ctgagccctt tccaccttac cctgtggcct gccctgtgcc tctggagctg ctggctgagg
      481 aggaatctta cttctccaca gtgaagatta tctacaccgt gggccatagc atctctattg
      541 tagccctctt cgtggccatc accatcctgg ttgctctcag gaggctccac tgcccccgga
      601 actacgtcca cacccagctg ttcaccactt ttatcctcaa ggcgggagct gtgttcctga
      661 aggatgctgc ccttttccac agcgacgaca ctgaccactg cagcttctcc actgttctat
      721 gcaaggtctc tgtggccgcc tcccatttcg ccaccatgac caacttcagc tggctgttgg
      781 cagaagccgt ctacctgaac tgcctcctgg cctccacctc ccccagctca aggagagcct
      841 tctggtggct ggttctcgct ggctgggggc tgcccgtgct cttcactggc acgtgggtga
      901 gctgcaaact ggccttcgag gacatcgcgt gctgggacct ggacgacacc tccccctact
      961 ggtggatcat caaagggccc attgtcctct cggtcggggt gaactttggg ctttttctca
     1021 atattatccg catcctggtg aggaaactgg agccagctca gggcagcctc catacccagt
     1081 ctcagtattg gcgtctctcc aagtcgacac ttttcctgat cccactcttt ggaattcact
     1141 acatcatctt caacttcctg ccagacaatg ctggcctggg catccgcctc cccctggagc
     1201 tgggactggg ttccttccag ggcttcattg ttgccatcct ctactgcttc ctcaaccaag
     1261 aggtgaggac tgagatctca cggaagtggc atggccatga ccctgagctt ctgccagcct
     1321 ggaggacccg tgctaagtgg accacgcctt cccgctcggc ggcaaaggtg ctgacatcta
     1381 tgtgctaggc tgcctcatca cgccactgga gtccacactt gaatttgggc agctaccacg
     1441 ggtctgccat gctctggagg agcaaggggg ccacatcccc accccagctg ttacccagcc
     1501 cggggcaggt gcagcccttc ctccctgtct ctgcatctga ctctcttttg aggtccctgt
     1561 atgtctacct ctgacttctg tggtccctct gtgtctgctc tcatccattc ctcttactgg
     1621 ggcctggggc tctagcccaa ggctcagagg agccaataaa cctgtaaatg aa
//
LOCUS       NM_000824               3033 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens glycine receptor beta (GLRB), transcript variant 1,
            mRNA.
ACCESSION   NM_000824
VERSION     NM_000824.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3033)
  AUTHORS   Aboheimed GI, AlRasheed MM, Almudimeegh S, Pena-Guerra KA,
            Cardona-Londono KJ, Salih MA, Seidahmed MZ, Al-Mohanna F, Colak D,
            Harvey RJ, Harvey K, Arold ST, Kaya N and Ruiz AJ.
  TITLE     Clinical, genetic, and functional characterization of the glycine
            receptor beta-subunit A455P variant in a family affected by
            hyperekplexia syndrome
  JOURNAL   J Biol Chem 298 (7), 102018 (2022)
   PUBMED   35526563
  REMARK    GeneRIF: Clinical, genetic, and functional characterization of the
            glycine receptor beta-subunit A455P variant in a family affected by
            hyperekplexia syndrome.
REFERENCE   2  (bases 1 to 3033)
  AUTHORS   Ridderbusch IC, Richter J, Yang Y, Hoefler M, Weber H, Reif A, Hamm
            A, Pane-Farre CA, Gerlach AL, Stroehle A, Pfleiderer B, Arolt V,
            Wittchen HU, Gloster A, Lang T, Helbig-Lang S, Fehm L, Pauli P,
            Kircher T, Lueken U and Straube B.
  TITLE     Association of rs7688285 allelic variation coding for GLRB with fear
            reactivity and exposure-based therapy in patients with panic
            disorder and agoraphobia
  JOURNAL   Eur Neuropsychopharmacol 29 (10), 1138-1151 (2019)
   PUBMED   31444036
  REMARK    GeneRIF: single nucleotide polymorphism of glrb interacts in a
            complex manner with Panic Disorder /AgoraphobiaG on a functional
            systems level and might be involved in the development of PD/AG but
            not in their treatment.
REFERENCE   3  (bases 1 to 3033)
  AUTHORS   Wu D, Wang M, Wang X, Zhang YB, Song T, Yin N and Zhao Z.
  TITLE     Interaction between interferon regulatory factor 6 and glycine
            receptor beta shows a protective effect on developing nonsyndromic
            cleft lip with or without cleft palate in the Han Chinese population
  JOURNAL   Eur J Oral Sci 127 (1), 27-32 (2019)
   PUBMED   30462859
  REMARK    GeneRIF: The association between the missense SNP rs2235371 in gene
            IRF6 and NSCL/P suggests that this SNP may play an important role as
            a risk factor for NSCL/P in the Han Chinese populations.
REFERENCE   4  (bases 1 to 3033)
  AUTHORS   Patrizio A, Renner M, Pizzarelli R, Triller A and Specht CG.
  TITLE     Alpha subunit-dependent glycine receptor clustering and regulation
            of synaptic receptor numbers
  JOURNAL   Sci Rep 7 (1), 10899 (2017)
   PUBMED   28883437
  REMARK    GeneRIF: Using quantitative photoactivated localisation microscopy
            the authors found that alpha-1 and alpha-3 containing glycine
            receptors display the same alpha3:beta2 stoichiometry and gephyrin
            binding. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3033)
  AUTHORS   Sobetzko D, Sander T and Becker CM.
  TITLE     Genetic variation of the human glycine receptor subunit genes GLRA3
            and GLRB and susceptibility to idiopathic generalized epilepsies
  JOURNAL   Am J Med Genet 105 (6), 534-538 (2001)
   PUBMED   11496371
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3033)
  AUTHORS   Sarang SS, Miller GW, Grant DF and Schnellmann RG.
  TITLE     Expression and localization of the neuronal glycine receptor
            beta-subunit in human, rabbit and rat kidneys
  JOURNAL   Nephron 82 (3), 254-260 (1999)
   PUBMED   10395998
REFERENCE   7  (bases 1 to 3033)
  AUTHORS   Milani N, Mulhardt C, Weber RG, Lichter P, Kioschis P, Poustka A and
            Becker CM.
  TITLE     The human glycine receptor beta subunit gene (GLRB): structure,
            refined chromosomal localization, and population polymorphism
  JOURNAL   Genomics 50 (3), 341-345 (1998)
   PUBMED   9676428
REFERENCE   8  (bases 1 to 3033)
  AUTHORS   Handford CA, Lynch JW, Baker E, Webb GC, Ford JH, Sutherland GR and
            Schofield PR.
  TITLE     The human glycine receptor beta subunit: primary structure,
            functional characterisation and chromosomal localisation of the
            human and murine genes
  JOURNAL   Brain Res Mol Brain Res 35 (1-2), 211-219 (1996)
   PUBMED   8717357
REFERENCE   9  (bases 1 to 3033)
  AUTHORS   Meyer G, Kirsch J, Betz H and Langosch D.
  TITLE     Identification of a gephyrin binding motif on the glycine receptor
            beta subunit
  JOURNAL   Neuron 15 (3), 563-572 (1995)
   PUBMED   7546736
REFERENCE   10  (bases 1 to 3033)
  AUTHORS   Balint,B. and Thomas,R.
  TITLE     Hereditary Hyperekplexia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301437
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.106379.1,
            SRR1660807.35429.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000264428.9/ ENSP00000264428.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079403.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000824.4.
            Summary: This gene encodes the beta subunit of the glycine
            receptor, which is a pentamer composed of alpha and beta subunits.
            The receptor functions as a neurotransmitter-gated ion channel,
            which produces hyperpolarization via increased chloride conductance
            due to the binding of glycine to the receptor. Mutations in this
            gene cause startle disease, also known as hereditary hyperekplexia
            or congenital stiff-person syndrome, a disease characterized by
            muscular rigidity. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Oct 2009].
            Transcript Variant: This variant (1, also known as variant A)
            represents the longest transcript and encodes the longer isoform
            (A). Both variants 1 and 2 encode the same isoform.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3033
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.1"
     gene            1..3033
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="glycine receptor beta"
                     /db_xref="GeneID:2743"
                     /db_xref="HGNC:HGNC:4329"
                     /db_xref="MIM:138492"
     CDS             178..1671
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="isoform A precursor is encoded by transcript variant
                     1; glycine receptor subunit beta; glycine receptor, beta
                     subunit; glycine receptor 58 kDa subunit"
                     /codon_start=1
                     /product="glycine receptor subunit beta isoform A
                     precursor"
                     /protein_id="NP_000815.1"
                     /db_xref="CCDS:CCDS3796.1"
                     /db_xref="GeneID:2743"
                     /db_xref="HGNC:HGNC:4329"
                     /db_xref="MIM:138492"
                     /translation="MKFLLTTAFLILISLWVEEAYSKEKSSKKGKGKKKQYLCPSQQSA
                     EDLARVPANSTSNILNRLLVSYDPRIRPNFKGIPVDVVVNIFINSFGSIQETTMDYRVN
                     IFLRQKWNDPRLKLPSDFRGSDALTVDPTMYKCLWKPDLFFANEKSANFHDVTQENILL
                     FIFRDGDVLVSMRLSITLSCPLDLTLFPMDTQRCKMQLESFGYTTDDLRFIWQSGDPVQ
                     LEKIALPQFDIKKEDIEYGNCTKYYKGTGYYTCVEVIFTLRRQVGFYMMGVYAPTLLIV
                     VLSWLSFWINPDASAARVPLGIFSVLSLASECTTLAAELPKVSYVKALDVWLIACLLFG
                     FASLVEYAVVQVMLNNPKRVEAEKARIAKAEQADGKGGNVAKKNTVNGTGTPVHISTLQ
                     VGETRCKKVCTSKSDLRSNDFSIVGSLPRDFELSNYDCYGKPIEVNNGLGKSQAKNNKK
                     PPPAKPVIPTAAKRIDLYARALFPFCFLFFNVIYWSIYL"
     sig_peptide     178..243
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     244..1668
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /product="glycine receptor subunit beta isoform A"
     misc_feature    337..339
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P48167.1); glycosylation site"
     misc_feature    901..903
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P48167.1); glycosylation site"
     misc_feature    982..1047
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="propagated from UniProtKB/Swiss-Prot (P48167.1);
                     transmembrane region"
     misc_feature    1063..1125
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="propagated from UniProtKB/Swiss-Prot (P48167.1);
                     transmembrane region"
     misc_feature    1096..1098
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="Important for obstruction of the ion pore in the
                     closed conformation.
                     /evidence=ECO:0000250|UniProtKB:P23415; propagated from
                     UniProtKB/Swiss-Prot (P48167.1); other site"
     misc_feature    1159..1221
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="propagated from UniProtKB/Swiss-Prot (P48167.1);
                     transmembrane region"
     misc_feature    1348..1350
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P20781; propagated from
                     UniProtKB/Swiss-Prot (P48167.1); phosphorylation site"
     misc_feature    1603..1665
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="propagated from UniProtKB/Swiss-Prot (P48167.1);
                     transmembrane region"
     regulatory      2199..2204
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="hexamer: AATAAA"
     regulatory      2211..2216
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="hexamer: AATATA"
     polyA_site      2212
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
     polyA_site      2232
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="major polyA site"
     regulatory      2714..2719
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="hexamer: AATAAT"
     polyA_site      2742
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
     regulatory      3008..3013
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="hexamer: AATAAA"
     polyA_site      3033
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
ORIGIN
        1 aggcgcgtca gccgagctcg gcggtggcgc gggcggctgg gacgcagctg cccccgctcg
       61 gcgcccgctg cacccttagc agccactgcc acctgggccc ggagcctcca cgatctcgcc
      121 cggcgattgt gggcaggggc gcctccggat cgatcttctg aaattcaagt tttcaagatg
      181 aagtttttat tgacaactgc ctttttaatt ttaatttcct tgtgggtgga agaagcctat
      241 tctaaggaaa agtcttcaaa gaaagggaag gggaaaaaga agcagtatct atgcccatct
      301 cagcagtcag cagaggacct tgcccgagta cctgccaact ccactagcaa tatcttgaac
      361 aggttattgg tcagttatga tcccaggata agaccaaact tcaaaggcat tcctgttgat
      421 gtagtagtca acatttttat taacagtttt ggatccattc aagaaacaac aatggactat
      481 agagttaaca tcttcctgag acaaaaatgg aatgacccca ggctgaagct ccccagtgat
      541 tttaggggtt cagatgcact gacagtggat ccaacaatgt acaagtgttt atggaaacct
      601 gatttatttt ttgcaaatga aaaaagtgcc aattttcatg atgtgaccca ggaaaacatc
      661 ctcctcttta tttttcgtga tggagatgtc cttgtcagca tgaggttatc tattactctt
      721 tcatgccctt tggacttgac attgtttccc atggatacac aacgttgcaa gatgcaactg
      781 gagagctttg gttacacaac tgatgattta cgatttatct ggcagtcagg agatcctgtg
      841 caattagaaa aaattgcctt gcctcaattt gatatcaaaa aggaagatat tgaatatggt
      901 aactgtacaa aatactataa aggcacgggc tactacacat gcgtggaagt catcttcacc
      961 ctgaggaggc aggtcggctt ttacatgatg ggggtctacg ccccaactct gctcattgtt
     1021 gttctctcct ggctttcctt ctggatcaac ccggacgcga gtgctgccag agtgcccctg
     1081 ggtatcttct cagtcctcag cttggcctct gagtgcacaa cccttgccgc tgagcttccc
     1141 aaagtttcct atgtgaaggc tcttgatgtt tggcttattg cttgccttct ctttgggttt
     1201 gcttccctgg tggagtatgc agttgtccag gtgatgctga acaaccccaa aagggttgaa
     1261 gctgaaaaag ccagaattgc taaggctgag caagcagatg gaaaaggtgg aaatgtggct
     1321 aaaaagaata ctgtgaatgg aacagggact cctgttcata ttagcacttt gcaggttggt
     1381 gagaccagat gcaaaaaagt ttgtacttct aagtctgatc tgagatctaa tgacttcagc
     1441 attgttggaa gcttaccaag agattttgaa ctatccaatt atgactgcta tggaaaaccc
     1501 attgaagtta acaacggact tgggaaatct caggctaaga acaacaagaa gcctccccct
     1561 gcgaaacctg ttattccaac agcagcaaag cgaattgatc tttatgcaag agcattgttt
     1621 cctttctgct tcttgttctt caatgttata tattggtcta tatatttatg ataaatcttt
     1681 tccatttgta caaaataaaa ttccatttca ttgtgaccta ctcctttcat aaatgccaat
     1741 ctgtgagaac ttttgaattt tcatagcaac attgcatttt ggatgccatt tgattgtaat
     1801 aaaactgtgg caccttaatt ttgaatggca gcatgatcat gtaatatctg tgctctaata
     1861 acgatgtata tatgtatagt gaacatattg cttagtaaca aatgaaggac aagcatacta
     1921 cataatataa tccatacaat tctcttcagt tagtgtaaac tgcaaatact acagataatt
     1981 ctgataataa aatgatatgc acgctgaatc ctgctatggt caccattcta atgtatgtag
     2041 tatttcaaat ttccttcctt gtaactttca aagaaagcca tcttattctt gtaaaatttt
     2101 agatggtatt atcacagatt taaaaaggtt gtattacata ttgtttaaac tttgtaagta
     2161 gaaatatatc tgttataatt atacaggctc tgtggagaaa taaagttcaa aatatattaa
     2221 tttgtaaaat cagctcgttt taaagtgtgc ttgtgttgtc aaaaatatca gatagtaata
     2281 cacagtgagc atttttaaac aaagggaaac ctatatttat gtaactgtat actgaattct
     2341 gacaaaataa aaaaagatac cttattgacg aaatatttag gataaacaaa attctattta
     2401 atccacctta aaacctaaat gtattttcat ggatttcatt tgttggtaca tattacacaa
     2461 aacattgtgc cttaaaatga gtcatacatc ttttaaattg gaatgcagta atagatatgt
     2521 gattttacat catttttaag aaaccaaggg gaagtaataa gttgaaaaag aaatccataa
     2581 ctattaaaag attttaactt ttttatttta ttaaaatgct tgcatatttt aagtaaaatt
     2641 aaaaatgttt actgaattta tttttttatt tgaatatttt gggattagtt acaaaatatt
     2701 tagagattaa ataaataata gctttgtttg tgttagactt cacttctact tgtattttct
     2761 ttcttgttaa aagtctagac aactgagatt tacttacttt gaacttgttc caatccaaaa
     2821 gtaagcacta agtctcattt tatgagacca ccatttctta atatcacatc cagtgcacct
     2881 ttgtctttct gccatatctg aaataaaact atcagtaatt cacatagata aacataagac
     2941 taaagaagta tatttacatt atctggagag ttttgttgca gctacgagtt tgtatggcaa
     3001 attcaataat aaagtattgt ttatgcaaat tgc
//
LOCUS       NM_000827               5584 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens glutamate ionotropic receptor AMPA type subunit 1
            (GRIA1), transcript variant 1, mRNA.
ACCESSION   NM_000827
VERSION     NM_000827.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5584)
  AUTHORS   Lai SK, Wu KLK, Ma CW, Ng KP, Hu XQ, Tam KW, Yung WH, Wang YT, Wong
            TP, Shum DK and Chan YS.
  TITLE     Timely insertion of AMPA receptor in developing vestibular circuits
            is required for manifestation of righting reflexes and effective
            navigation
  JOURNAL   Prog Neurobiol 221, 102402 (2023)
   PUBMED   36608782
  REMARK    GeneRIF: Timely insertion of AMPA receptor in developing vestibular
            circuits is required for manifestation of righting reflexes and
            effective navigation.
REFERENCE   2  (bases 1 to 5584)
  AUTHORS   Ismail V, Zachariassen LG, Godwin A, Sahakian M, Ellard S, Stals KL,
            Baple E, Brown KT, Foulds N, Wheway G, Parker MO, Lyngby SM,
            Pedersen MG, Desir J, Bayat A, Musgaard M, Guille M, Kristensen AS
            and Baralle D.
  TITLE     Identification and functional evaluation of GRIA1 missense and
            truncation variants in individuals with ID: An emerging
            neurodevelopmental syndrome
  JOURNAL   Am J Hum Genet 109 (7), 1217-1241 (2022)
   PUBMED   35675825
  REMARK    GeneRIF: Identification and functional evaluation of GRIA1 missense
            and truncation variants in individuals with ID: An emerging
            neurodevelopmental syndrome.
REFERENCE   3  (bases 1 to 5584)
  AUTHORS   Zhao M, Dong J, Liao Y, Lu G, Pan W, Zhou H, Zuo X and Shan B.
  TITLE     MicroRNA miR-18a-3p promotes osteoporosis and possibly contributes
            to spinal fracture by inhibiting the glutamate AMPA receptor subunit
            1 gene (GRIA1)
  JOURNAL   Bioengineered 13 (1), 370-382 (2022)
   PUBMED   34937502
  REMARK    GeneRIF: MicroRNA miR-18a-3p promotes osteoporosis and possibly
            contributes to spinal fracture by inhibiting the glutamate AMPA
            receptor subunit 1 gene (GRIA1).
REFERENCE   4  (bases 1 to 5584)
  AUTHORS   Ge Y and Wang YT.
  TITLE     GluA1-homomeric AMPA receptor in synaptic plasticity and
            neurological diseases
  JOURNAL   Neuropharmacology 197, 108708 (2021)
   PUBMED   34274350
  REMARK    GeneRIF: GluA1-homomeric AMPA receptor in synaptic plasticity and
            neurological diseases. Review article
REFERENCE   5  (bases 1 to 5584)
  AUTHORS   Melo HM, de Carvalho CR, Hoeller AA, Marques JLB, Linhares MN, Lopes
            MW, Fialho GL, Wolf P, Lin K, Bortolotto ZA, Henley JM, D'Avila A,
            Leal RB and Walz R.
  TITLE     AMPAr GluA1 Phosphorylation at Serine 845 in Limbic System Is
            Associated with Cardiac Autonomic Tone
  JOURNAL   Mol Neurobiol 58 (4), 1859-1870 (2021)
   PUBMED   33404979
  REMARK    GeneRIF: AMPAr GluA1 Phosphorylation at Serine 845 in Limbic System
            Is Associated with Cardiac Autonomic Tone.
REFERENCE   6  (bases 1 to 5584)
  AUTHORS   Yakel JL, Vissavajjhala P, Derkach VA, Brickey DA and Soderling TR.
  TITLE     Identification of a Ca2+/calmodulin-dependent protein kinase II
            regulatory phosphorylation site in non-N-methyl-D-aspartate
            glutamate receptors
  JOURNAL   Proc Natl Acad Sci U S A 92 (5), 1376-1380 (1995)
   PUBMED   7877986
REFERENCE   7  (bases 1 to 5584)
  AUTHORS   McNamara JO, Eubanks JH, McPherson JD, Wasmuth JJ, Evans GA and
            Heinemann SF.
  TITLE     Chromosomal localization of human glutamate receptor genes
  JOURNAL   J Neurosci 12 (7), 2555-2562 (1992)
   PUBMED   1319477
REFERENCE   8  (bases 1 to 5584)
  AUTHORS   Sun W, Ferrer-Montiel AV, Schinder AF, McPherson JP, Evans GA and
            Montal M.
  TITLE     Molecular cloning, chromosomal mapping, and functional expression of
            human brain glutamate receptors
  JOURNAL   Proc Natl Acad Sci U S A 89 (4), 1443-1447 (1992)
   PUBMED   1311100
REFERENCE   9  (bases 1 to 5584)
  AUTHORS   Potier MC, Spillantini MG and Carter NP.
  TITLE     The human glutamate receptor cDNA GluR1: cloning, sequencing,
            expression and localization to chromosome 5
  JOURNAL   DNA Seq 2 (4), 211-218 (1992)
   PUBMED   1320959
REFERENCE   10  (bases 1 to 5584)
  AUTHORS   Puckett C, Gomez CM, Korenberg JR, Tung H, Meier TJ, Chen XN and
            Hood L.
  TITLE     Molecular cloning and chromosomal localization of one of the human
            glutamate receptor genes
  JOURNAL   Proc Natl Acad Sci U S A 88 (17), 7557-7561 (1991)
   PUBMED   1652753
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.221732.1,
            SRR1803616.21965.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000285900.10/ ENSP00000285900.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC335107.1, AK310189.1,
            M81886.1, X58633.1, AB209094.1 and AL120214.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000827.3.
            Summary: Glutamate receptors are the predominant excitatory
            neurotransmitter receptors in the mammalian brain and are activated
            in a variety of normal neurophysiologic processes. These receptors
            are heteromeric protein complexes with multiple subunits, each
            possessing transmembrane regions, and all arranged to form a
            ligand-gated ion channel. The classification of glutamate receptors
            is based on their activation by different pharmacologic agonists.
            This gene belongs to a family of
            alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA)
            receptors. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5584
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.2"
     gene            1..5584
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="glutamate ionotropic receptor AMPA type subunit 1"
                     /db_xref="GeneID:2890"
                     /db_xref="HGNC:HGNC:4571"
                     /db_xref="MIM:138248"
     misc_feature    178..180
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="upstream in-frame stop codon"
     CDS             220..2940
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; AMPA 1; gluR-1; gluR-A; gluR-K1; AMPA-selective
                     glutamate receptor 1; AMPA receptor subunit GluA1;
                     glutamate receptor, ionotropic, AMPA 1"
                     /codon_start=1
                     /product="glutamate receptor 1 isoform 1 precursor"
                     /protein_id="NP_000818.2"
                     /db_xref="CCDS:CCDS4322.1"
                     /db_xref="GeneID:2890"
                     /db_xref="HGNC:HGNC:4571"
                     /db_xref="MIM:138248"
                     /translation="MQHIFAFFCTGFLGAVVGANFPNNIQIGGLFPNQQSQEHAAFRFA
                     LSQLTEPPKLLPQIDIVNISDSFEMTYRFCSQFSKGVYAIFGFYERRTVNMLTSFCGAL
                     HVCFITPSFPVDTSNQFVLQLRPELQDALISIIDHYKWQKFVYIYDADRGLSVLQKVLD
                     TAAEKNWQVTAVNILTTTEEGYRMLFQDLEKKKERLVVVDCESERLNAILGQIIKLEKN
                     GIGYHYILANLGFMDIDLNKFKESGANVTGFQLVNYTDTIPAKIMQQWKNSDARDHTRV
                     DWKRPKYTSALTYDGVKVMAEAFQSLRRQRIDISRRGNAGDCLANPAVPWGQGIDIQRA
                     LQQVRFEGLTGNVQFNEKGRRTNYTLHVIEMKHDGIRKIGYWNEDDKFVPAATDAQAGG
                     DNSSVQNRTYIVTTILEDPYVMLKKNANQFEGNDRYEGYCVELAAEIAKHVGYSYRLEI
                     VSDGKYGARDPDTKAWNGMVGELVYGRADVAVAPLTITLVREEVIDFSKPFMSLGISIM
                     IKKPQKSKPGVFSFLDPLAYEIWMCIVFAYIGVSVVLFLVSRFSPYEWHSEEFEEGRDQ
                     TTSDQSNEFGIFNSLWFSLGAFMQQGCDISPRSLSGRIVGGVWWFFTLIIISSYTANLA
                     AFLTVERMVSPIESAEDLAKQTEIAYGTLEAGSTKEFFRRSKIAVFEKMWTYMKSAEPS
                     VFVRTTEEGMIRVRKSKGKYAYLLESTMNEYIEQRKPCDTMKVGGNLDSKGYGIATPKG
                     SALRNPVNLAVLKLNEQGLLDKLKNKWWYDKGECGSGGGDSKDKTSALSLSNVAGVFYI
                     LIGGLGLAMLVALIEFCYKSRSESKRMKGFCLIPQQSINEAIRTSTLPRNSGAGASSGG
                     SGENGRVVSHDFPKSMQSIPCMSHSSGMPLGATGL"
     sig_peptide     220..273
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     274..2937
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /product="glutamate receptor 1 isoform 1"
     misc_feature    406..408
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P42261.2); glycosylation site"
     misc_feature    964..966
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P42261.2); glycosylation site"
     misc_feature    988..990
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P42261.2); glycosylation site"
     misc_feature    1306..1308
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P42261.2); glycosylation site"
     misc_feature    1420..1422
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P42261.2); glycosylation site"
     misc_feature    1435..1437
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P42261.2); glycosylation site"
     misc_feature    1828..1890
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="propagated from UniProtKB/Swiss-Prot (P42261.2);
                     transmembrane region"
     misc_feature    2047..2109
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="propagated from UniProtKB/Swiss-Prot (P42261.2);
                     transmembrane region"
     misc_feature    2152..2154
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P19490; propagated from
                     UniProtKB/Swiss-Prot (P42261.2); phosphorylation site"
     misc_feature    2347..2349
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P19490; propagated from
                     UniProtKB/Swiss-Prot (P42261.2); phosphorylation site"
     misc_feature    2635..2697
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="propagated from UniProtKB/Swiss-Prot (P42261.2);
                     transmembrane region"
     misc_feature    2764..2766
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P19490; propagated from
                     UniProtKB/Swiss-Prot (P42261.2); phosphorylation site"
     misc_feature    2800..2859
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="propagated from UniProtKB/Swiss-Prot (P42261.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2806..2808
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P19490; propagated from
                     UniProtKB/Swiss-Prot (P42261.2); phosphorylation site"
     misc_feature    2926..2937
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="propagated from UniProtKB/Swiss-Prot (P42261.2);
                     Region: PDZ-binding"
     regulatory      5375..5380
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="hexamer: ATTAAA"
     polyA_site      5395
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="major polyA site"
     regulatory      5562..5567
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="hexamer: ATTAAA"
     polyA_site      5584
                     /gene="GRIA1"
                     /gene_synonym="GluA1; GLUH1; GLUR1; GLURA; HBGR1; MRD67;
                     MRT76"
                     /note="major polyA site"
ORIGIN
        1 agttaatctg gctgtcagtt ggtgttaacg ctgcagttta agtgttcgga ttccaaggga
       61 aacagacaaa cctcacgaaa ggaaggaagc aagcaagcaa ggaaggaact gcaggaggaa
      121 aagaacaggc agaacagcga gaagaataaa gggaaagggg gggaaacacc aaatctatga
      181 ttggacctgg gcttcttttt cgccaatgca aaaaggaata tgcagcacat ttttgccttc
      241 ttctgcaccg gtttcctagg cgcggtagta ggtgccaatt tccccaacaa tatccagatc
      301 gggggattat ttccaaacca gcagtcacag gaacatgctg cttttagatt tgctttgtcg
      361 caactcacag agcccccgaa gctgctcccc cagattgata ttgtgaacat cagcgacagc
      421 tttgagatga cctatagatt ctgttcccag ttctccaaag gagtctatgc catctttggg
      481 ttttatgaac gtaggactgt caacatgctg acctcctttt gtggggccct ccacgtctgc
      541 ttcattacgc cgagctttcc cgttgataca tccaatcagt ttgtccttca gctgcgccct
      601 gaactgcagg atgccctcat cagcatcatt gaccattaca agtggcagaa atttgtctac
      661 atttatgatg ccgaccgggg cttatccgtc ctgcagaaag tcctggatac agctgctgag
      721 aagaactggc aggtgacagc agtcaacatt ttgacaacca cagaggaggg ataccggatg
      781 ctctttcagg acctggagaa gaaaaaggag cggctggtgg tggtggactg tgaatcagaa
      841 cgcctcaatg ctatcttggg ccagattata aagctagaga agaatggcat cggctaccac
      901 tacattcttg caaatctggg cttcatggac attgacttaa acaaattcaa ggagagtggc
      961 gccaatgtga caggtttcca gctggtgaac tacacagaca ctattccggc caagatcatg
     1021 cagcagtgga agaatagtga tgctcgagac cacacacggg tggactggaa gagacccaag
     1081 tacacctctg cgctcaccta cgatggggtg aaggtgatgg ctgaggcttt ccagagcctg
     1141 cggaggcaga gaattgatat atctcgccgg gggaatgctg gggattgtct ggctaaccca
     1201 gctgttccct ggggccaagg gatcgacatc cagagagctc tgcagcaggt gcgatttgaa
     1261 ggtttaacag gaaacgtgca gtttaatgag aaaggacgcc ggaccaacta cacgctccac
     1321 gtgattgaaa tgaaacatga cggcatccga aagattggtt actggaatga agatgataag
     1381 tttgtccctg cagccaccga tgcccaagct gggggcgata attcaagtgt tcagaacaga
     1441 acatacatcg tcacaacaat cctagaagat ccttatgtga tgctcaagaa gaacgccaat
     1501 cagtttgagg gcaatgaccg ttacgagggc tactgtgtag agctggcggc agagattgcc
     1561 aagcacgtgg gctactccta ccgtctggag attgtcagtg atggaaaata cggagcccga
     1621 gaccctgaca cgaaggcctg gaatggcatg gtgggagagc tggtctatgg aagagcagat
     1681 gtggctgtgg ctcccttaac tatcactttg gtccgggaag aagttataga tttctccaaa
     1741 ccatttatga gtttggggat ctccatcatg attaaaaaac cacagaaatc caagccgggt
     1801 gtcttctcct tccttgatcc tttggcttat gagatttgga tgtgcattgt ttttgcctac
     1861 attggagtga gtgttgtcct cttcctggtc agccgcttca gtccctatga atggcacagt
     1921 gaagagtttg aggaaggacg ggaccagaca accagtgacc agtccaatga gtttgggata
     1981 ttcaacagtt tgtggttctc cctgggagcc ttcatgcagc aaggatgtga catttctccc
     2041 aggtccctgt ctggtcgcat cgttggtggc gtctggtggt tcttcacctt aatcatcatc
     2101 tcctcatata cagccaatct ggccgccttc ctgaccgtgg agaggatggt gtctcccatt
     2161 gagagtgcag aggacctagc gaagcagaca gaaattgcct acgggacgct ggaagcagga
     2221 tctactaagg agttcttcag gaggtctaaa attgctgtgt ttgagaagat gtggacatac
     2281 atgaagtcag cagagccatc agtttttgtg cggaccacag aggaggggat gattcgagtg
     2341 aggaaatcca aaggcaaata tgcctacctc ctggagtcca ccatgaatga gtacattgag
     2401 cagcggaaac cctgtgacac catgaaggtg ggaggtaact tggattccaa aggctatggc
     2461 attgcaacac ccaaggggtc tgccctgaga aatccagtaa acctggcagt gttaaaactg
     2521 aacgagcagg ggcttttgga caaattgaaa aacaaatggt ggtacgacaa gggcgagtgc
     2581 ggcagcgggg gaggtgattc caaggacaag acaagcgctc tgagcctcag caatgtggca
     2641 ggcgtgttct acatcctgat cggaggactt ggactagcca tgctggttgc cttaatcgag
     2701 ttctgctaca aatcccgtag tgaatccaag cggatgaagg gtttttgttt gatcccacag
     2761 caatccatca acgaagccat acggacatcg accctccccc gcaacagcgg ggcaggagcc
     2821 agcagcggcg gcagtggaga gaatggtcgg gtggtcagcc atgacttccc caagtccatg
     2881 caatcgattc cttgcatgag ccacagttca gggatgccct tgggagccac gggattgtaa
     2941 ctggagcaga tggagacccc ttggggagca ggctcgggct ccccagcccc atcccaaacc
     3001 cttcagtgcc aaaaacaaca acaaaatgaa acgcaaccac caccaaccac tgcgaccaca
     3061 agaaggatga ttcaacaggt tttcctgaag aattgaaaaa ccattttgct gtcccttttc
     3121 cttttttgat gttctttcac ccttttctgt ttgctaagtg aggatgaaaa aataacactg
     3181 tactgcaata aggggagagt aaccctgtct aatgaaacct gtgtctctga gagtagagtc
     3241 actggaacac taatgaggaa actgcactgt tttattttaa ttcagttgtt agtgtgtctt
     3301 agtgtgtgca attttttttc ttactaatat ccatggtttg caggttctgt taggcccttt
     3361 ccttctcctt acttcttatc cccaactccc tacccacccc tcttcagttt tcagattgga
     3421 gattcaagat ttgttccact ttacaagcaa gaggaaaaaa aagcaacctt caaactaatt
     3481 ctccatgggg gctctccatg ttaccctcca ctccttggcc caaacctctg atggagatag
     3541 acattgttgg agaagtgggc tgccttcccc aagtggggca ctgcttaagc acttattcag
     3601 tggagaacac aggtgaaaag caactcagga tgagggtggt ggagagggca ggggcagatg
     3661 tgcagtcaga gaaggactcc tgaagttact gctgctcaga aaaacagttc ctttaatgtg
     3721 gaagagccat ttcataggtc ataggtggta tggtatattt cttcagagtc aaccttggcc
     3781 ctgagaagta tgtcctcctg gtgtgctcag gctcaacggc agtctggtgg ctgaaggcac
     3841 ttggcctcct aaaccaagca gaattttggg aagagataac agccagggag atattgccca
     3901 tgattctcac tttttctttg cctggcatct aagcaggaac ccattgtgga gtagactctc
     3961 ttcttctatg gagcctctga catggggagc aatgctaagc aagctaagtg taaaagaaaa
     4021 gtgacagaat aattttggaa gaggaagcct catcaaaagc tcacacaaaa tagagcttcc
     4081 catggtgtgc cctatcctag gtttaagaaa acacgtatga agtttatgct gatgcaaaga
     4141 acttgggttt ttatgttaat ataaagtgtt gttttagcat gtggccagat gatgctctgt
     4201 catctttaga aagtgagata accaaggaaa taattgaagg agtataggga gatggattaa
     4261 gttgataatg acatttaggg caacttaaga cctttgatcc caggttctaa ctcaaagagg
     4321 ctgaccttcc cccagctaag atagcatgag gacgttgtat tccaatatac gtatgattgg
     4381 ggctacaaag ctgaactaaa gcaagattgg tgaagtggca gggtttatag agagaagccc
     4441 aggctgagtt cagcttttgt tggaagtgag aatccctgac atatagcttt cttggagatc
     4501 ccaactctca ttcttggtgc aactggcttc cagctctcca gcagtcactc tcctaggtgc
     4561 atgattcagt gcgtgccatg tgtcattagc ttttactgat aaccatattc tggcttgttc
     4621 ccttaccccc tacttctatc caattttctc tgctaggggt tatcattagc aattgacatg
     4681 ctaaaggttt tggagcccac ctaggggtag gtgcagcttt attggctttt ctgtggattc
     4741 tctcagtgga cccacaccat ctctatgtct ctccactctc ctgccttcag ccatagcaaa
     4801 gaatccttcc aaaatcaaac tcttcacttt tttgactcaa gtgttgttgt tcagtctctc
     4861 gcgtgtcaat gtggtcatgg ttcatgaaac cggaccctca agatggatga ttgcttttaa
     4921 ctactgccag ctgatgtctc tcagcccctg ccctcataca agatttttct cagccttcag
     4981 cctaccactg cagaatccga tgtgacccac cattagggag tctgcatctt ggaagagttg
     5041 gaaataaccc tttaacatca acatgcttca aagacttttt gcctttggcc tagtaagatg
     5101 cctctccagc tactgagccc acaagtaaca tgagcggata aaaagagact tgtttgtgct
     5161 agaaatgagg gtctatgcta tgagggggtc caagactctg gcgaaatgtg ctttttcatc
     5221 aatggagaaa tgaaaggaaa acacaagcaa gaaaaaagtt aacttgtatt atgtattttt
     5281 actacacttt tcttaaaaat agagcattgg gaaaactctg aaagagactg acatttttct
     5341 caacaggaat ccatacttaa cagttctggc tttcattaaa ttttgctctt tggtacctgg
     5401 gccttttatt taacatctat atttgtttta actctcttgg cagatgtgtg aaaggattct
     5461 tgcttgatca aacactaagt atttttttgg ttcttgtttt tctttcaaat agccaggttt
     5521 ttttcttttg gtatttgcat aaaatgaaaa tatcaccgaa tattaaatca ctgtggatcc
     5581 atta
//
LOCUS       NM_000828               5148 bp    mRNA    linear   PRI 19-JAN-2023
DEFINITION  Homo sapiens glutamate ionotropic receptor AMPA type subunit 3
            (GRIA3), transcript variant 2, mRNA.
ACCESSION   NM_000828
VERSION     NM_000828.5
KEYWORDS    RefSeq; MANE Plus Clinical.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5148)
  AUTHORS   Peng SX, Pei J, Rinaldi B, Chen J, Ge YH, Jia M, Wang J,
            Delahaye-Duriez A, Sun JH, Zang YY, Shi YY, Zhang N, Gao X, Milani
            D, Xu X, Sheng N, Gerard B, Zhang C, Bayat A, Liu N, Yang JJ and Shi
            YS.
  TITLE     Dysfunction of AMPA receptor GluA3 is associated with aggressive
            behavior in human
  JOURNAL   Mol Psychiatry 27 (10), 4092-4102 (2022)
   PUBMED   35697757
  REMARK    GeneRIF: Dysfunction of AMPA receptor GluA3 is associated with
            aggressive behavior in human.
REFERENCE   2  (bases 1 to 5148)
  AUTHORS   Hamanaka K, Miyoshi K, Sun JH, Hamada K, Komatsubara T, Saida K,
            Tsuchida N, Uchiyama Y, Fujita A, Mizuguchi T, Gerard B, Bayat A,
            Rinaldi B, Kato M, Tohyama J, Ogata K, Shi YS, Saito K, Miyatake S
            and Matsumoto N.
  TITLE     Amelioration of a neurodevelopmental disorder by carbamazepine in a
            case having a gain-of-function GRIA3 variant
  JOURNAL   Hum Genet 141 (2), 283-293 (2022)
   PUBMED   35031858
  REMARK    GeneRIF: Amelioration of a neurodevelopmental disorder by
            carbamazepine in a case having a gain-of-function GRIA3 variant.
REFERENCE   3  (bases 1 to 5148)
  AUTHORS   Hu MJ, Long M and Dai RJ.
  TITLE     Acetylation of H3K27 activated lncRNA NEAT1 and promoted hepatic
            lipid accumulation in non-alcoholic fatty liver disease via
            regulating miR-212-5p/GRIA3
  JOURNAL   Mol Cell Biochem 477 (1), 191-203 (2022)
   PUBMED   34652536
  REMARK    GeneRIF: Acetylation of H3K27 activated lncRNA NEAT1 and promoted
            hepatic lipid accumulation in non-alcoholic fatty liver disease via
            regulating miR-212-5p/GRIA3.
REFERENCE   4  (bases 1 to 5148)
  AUTHORS   Sun JH, Chen J, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones
            M, Romero LP, Rinaldi B, Li WL, Li QQ, Wu D, Gerard B, Thorpe E,
            Bayat A and Shi YS.
  TITLE     X-linked neonatal-onset epileptic encephalopathy associated with a
            gain-of-function variant p.R660T in GRIA3
  JOURNAL   PLoS Genet 17 (6), e1009608 (2021)
   PUBMED   34161333
  REMARK    GeneRIF: X-linked neonatal-onset epileptic encephalopathy associated
            with a gain-of-function variant p.R660T in GRIA3. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 5148)
  AUTHORS   Jazireian P, Sasani ST, Assarzadegan F and Azimian M.
  TITLE     TRAILR1 (rs20576) and GRIA3 (rs12557782) are not associated with
            interferon-beta response in multiple sclerosis patients
  JOURNAL   Mol Biol Rep 47 (12), 9659-9665 (2020)
   PUBMED   33269432
  REMARK    GeneRIF: TRAILR1 (rs20576) and GRIA3 (rs12557782) are not associated
            with interferon-beta response in multiple sclerosis patients.
REFERENCE   6  (bases 1 to 5148)
  AUTHORS   Tomiyama M, Rodriguez-Puertas R, Cortes R, Christnacher A, Sommer B,
            Pazos A, Palacios JM and Mengod G.
  TITLE     Differential regional distribution of AMPA receptor subunit
            messenger RNAs in the human spinal cord as visualized by in situ
            hybridization
  JOURNAL   Neuroscience 75 (3), 901-915 (1996)
   PUBMED   8951883
REFERENCE   7  (bases 1 to 5148)
  AUTHORS   Rampersad V, Elliott CE, Nutt SL, Foldes RL and Kamboj RK.
  TITLE     Human glutamate receptor hGluR3 flip and flop isoforms: cloning and
            sequencing of the cDNAs and primary structure of the proteins
  JOURNAL   Biochim Biophys Acta 1219 (2), 563-566 (1994)
   PUBMED   7918660
REFERENCE   8  (bases 1 to 5148)
  AUTHORS   Rogers SW, Andrews PI, Gahring LC, Whisenand T, Cauley K, Crain B,
            Hughes TE, Heinemann SF and McNamara JO.
  TITLE     Autoantibodies to glutamate receptor GluR3 in Rasmussen's
            encephalitis
  JOURNAL   Science 265 (5172), 648-651 (1994)
   PUBMED   8036512
REFERENCE   9  (bases 1 to 5148)
  AUTHORS   McNamara JO, Eubanks JH, McPherson JD, Wasmuth JJ, Evans GA and
            Heinemann SF.
  TITLE     Chromosomal localization of human glutamate receptor genes
  JOURNAL   J Neurosci 12 (7), 2555-2562 (1992)
   PUBMED   1319477
REFERENCE   10  (bases 1 to 5148)
  AUTHORS   Hollmann M, Hartley M and Heinemann S.
  TITLE     Ca2+ permeability of KA-AMPA--gated glutamate receptor channels
            depends on subunit composition
  JOURNAL   Science 252 (5007), 851-853 (1991)
   PUBMED   1709304
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.186991.1,
            SRR1803615.105740.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000622768.5/ ENSP00000481554.1
            undergoes RNA editing       :: PMID: 10688364, 7992055
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z83848.3, AL035426.2, Z82899.2,
            AL356213.10 and AL590139.11.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 14, 2020 this sequence version replaced NM_000828.4.
            Summary: Glutamate receptors are the predominant excitatory
            neurotransmitter receptors in the mammalian brain and are activated
            in a variety of normal neurophysiologic processes. These receptors
            are heteromeric protein complexes composed of multiple subunits,
            arranged to form ligand-gated ion channels. The classification of
            glutamate receptors is based on their activation by different
            pharmacologic agonists. The subunit encoded by this gene belongs to
            a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole
            propionate)-sensitive glutamate receptors, and is subject to RNA
            editing (AGA->GGA; R->G). Alternative splicing at this locus
            results in different isoforms, which may vary in their signal
            transduction properties. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) uses an alternate internal
            coding exon compared to transcript variant 1, and encodes an
            isoform (2, also known as flop isoform) that is the same length,
            but with a few amino acid differences from isoform 1. RNA editing
            (AGA->GGA) changes Arg775Gly.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5148
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq25"
     gene            1..5148
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /note="glutamate ionotropic receptor AMPA type subunit 3"
                     /db_xref="GeneID:2892"
                     /db_xref="HGNC:HGNC:4573"
                     /db_xref="MIM:305915"
     misc_feature    166..168
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /note="upstream in-frame stop codon"
     CDS             259..2943
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; glutamate receptor subunit 3; AMPA receptor subunit
                     GluA3; dJ1171F9.1; glutamate receptor C; gluR-3;
                     AMPA-selective glutamate receptor 3; glutamate receptor,
                     ionotrophic, AMPA 3; glutamate receptor, ionotropic, AMPA
                     3"
                     /codon_start=1
                     /product="glutamate receptor 3 isoform 2 precursor"
                     /protein_id="NP_000819.4"
                     /db_xref="CCDS:CCDS14604.1"
                     /db_xref="GeneID:2892"
                     /db_xref="HGNC:HGNC:4573"
                     /db_xref="MIM:305915"
                     /translation="MARQKKMGQSVLRAVFFLVLGLLGHSHGGFPNTISIGGLFMRNTV
                     QEHSAFRFAVQLYNTNQNTTEKPFHLNYHVDHLDSSNSFSVTNAFCSQFSRGVYAIFGF
                     YDQMSMNTLTSFCGALHTSFVTPSFPTDADVQFVIQMRPALKGAILSLLGHYKWEKFVY
                     LYDTERGFSILQAIMEAAVQNNWQVTARSVGNIKDVQEFRRIIEEMDRRQEKRYLIDCE
                     VERINTILEQVVILGKHSRGYHYMLANLGFTDILLERVMHGGANITGFQIVNNENPMVQ
                     QFIQRWVRLDEREFPEAKNAPLKYTSALTHDAILVIAEAFRYLRRQRVDVSRRGSAGDC
                     LANPAVPWSQGIDIERALKMVQVQGMTGNIQFDTYGRRTNYTIDVYEMKVSGSRKAGYW
                     NEYERFVPFSDQQISNDSASSENRTIVVTTILESPYVMYKKNHEQLEGNERYEGYCVDL
                     AYEIAKHVRIKYKLSIVGDGKYGARDPETKIWNGMVGELVYGRADIAVAPLTITLVREE
                     VIDFSKPFMSLGISIMIKKPQKSKPGVFSFLDPLAYEIWMCIVFAYIGVSVVLFLVSRF
                     SPYEWHLEDNNEEPRDPQSPPDPPNEFGIFNSLWFSLGAFMQQGCDISPRSLSGRIVGG
                     VWWFFTLIIISSYTANLAAFLTVERMVSPIESAEDLAKQTEIAYGTLDSGSTKEFFRRS
                     KIAVYEKMWSYMKSAEPSVFTKTTADGVARVRKSKGKFAFLLESTMNEYIEQRKPCDTM
                     KVGGNLDSKGYGVATPKGSALRNAVNLAVLKLNEQGLLDKLKNKWWYDKGECGSGGGDS
                     KDKTSALSLSNVAGVFYILVGGLGLAMMVALIEFCYKSRAESKRMKLTKNTQNFKPAPA
                     TNTQNYATYREGYNVYGTESVKI"
     sig_peptide     259..342
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     343..2940
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /product="glutamate receptor 3 isoform 2"
     misc_feature    445..447
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P42263.2); glycosylation site"
     misc_feature    1054..1056
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P42263.2); glycosylation site"
     misc_feature    1396..1398
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P42263.2); glycosylation site"
     misc_feature    1501..1503
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P42263.2); glycosylation site"
     misc_feature    1522..1524
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P42263.2); glycosylation site"
     misc_feature    1915..1977
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /note="propagated from UniProtKB/Swiss-Prot (P42263.2);
                     transmembrane region"
     misc_feature    2140..2202
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /note="propagated from UniProtKB/Swiss-Prot (P42263.2);
                     transmembrane region"
     misc_feature    2728..2790
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /note="propagated from UniProtKB/Swiss-Prot (P42263.2);
                     transmembrane region"
     misc_feature    2887..2889
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z2W9; propagated from
                     UniProtKB/Swiss-Prot (P42263.2); phosphorylation site"
     misc_feature    2917..2919
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z2W9; propagated from
                     UniProtKB/Swiss-Prot (P42263.2); phosphorylation site"
     misc_feature    2581
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /note="RNA editing at nt 2616 (AGA->GGA) changes Arg775Gly;
                     Region: RNA editing site"
     regulatory      5128..5133
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /note="hexamer: AATAAA"
     polyA_site      5148
                     /gene="GRIA3"
                     /gene_synonym="GluA3; GLUR-C; GLUR-K3; GLUR3; GLURC;
                     iGluR3; MRX94; MRXSW"
                     /note="major polyA site"
ORIGIN
        1 aagaaaggaa gagagagcga gcgagagaga gcgagcgaat aagagagaga gtaagaggga
       61 gagagaagaa gaggaagaag aggaggcggc ggcagcggag gaggaggagg actagtgtgg
      121 ggtggaaagg aagagtgagc gagagcaagt taaggggagg gggtgtaaga gccagcgaat
      181 tctttttctt tttctattat tattttgacg actcctgagt tgcgcccatg ctcttgtcag
      241 cttcgtttta ggcgtagcat ggccaggcag aagaaaatgg ggcaaagcgt gctccgggcg
      301 gtcttctttt tagtcctggg gcttttgggt cattctcacg gaggattccc caacaccatc
      361 agcataggtg gacttttcat gagaaacaca gtgcaggagc acagcgcttt ccgctttgcc
      421 gtgcagttat acaacaccaa ccagaacacc accgagaagc ccttccattt gaattaccac
      481 gtagatcact tggattcctc caatagtttt tccgtgacaa atgctttctg ctcccagttc
      541 tcgagagggg tgtatgccat ctttggattc tatgaccaga tgtcaatgaa caccctgacc
      601 tccttctgtg gggccctgca cacatccttt gttacgccta gcttccccac tgacgcagat
      661 gtgcagtttg tcatccagat gcgcccagcc ttgaagggcg ctattctgag tcttctgggt
      721 cattacaagt gggagaagtt tgtgtacctc tatgacacag aacgaggatt ttccatcctc
      781 caagcgatta tggaagcagc agtgcaaaac aactggcaag taacagcaag gtctgtggga
      841 aacataaagg acgtccaaga attcaggcgc atcattgaag aaatggacag gaggcaggaa
      901 aagcgatact tgattgactg cgaagtcgaa aggattaaca caattttgga acaggttgtg
      961 atcctaggga aacactcaag aggttatcac tacatgctcg ctaacctggg ttttactgat
     1021 attttactgg aaagagtcat gcatggggga gccaacatta caggtttcca gattgtcaac
     1081 aatgaaaacc ctatggttca gcagttcata cagcgctggg tgaggctgga tgaaagggaa
     1141 ttccctgaag ccaagaatgc accactaaag tatacatctg cattgacaca cgacgcaata
     1201 ctggtcatag cagaagcttt ccgctacctg aggaggcagc gagtagatgt gtcccggaga
     1261 ggaagtgctg gagactgctt agcaaatcct gctgtgccct ggagtcaagg aattgatatt
     1321 gagagagctc tgaaaatggt gcaagtacaa ggaatgactg gaaatattca atttgacact
     1381 tatggacgta ggacaaatta taccatcgat gtgtatgaaa tgaaagtcag tggctctcga
     1441 aaagctggct actggaatga gtatgaaagg tttgtgcctt tctcagatca gcaaatcagc
     1501 aatgacagtg catcctcaga gaatcggacc atagtagtga ctaccattct ggaatcacca
     1561 tatgtaatgt acaagaagaa ccatgagcaa ctggaaggaa atgaacgata tgaaggctat
     1621 tgtgtagacc tagcctatga aatagccaaa catgtaagga tcaaatacaa attgtccatc
     1681 gttggtgacg ggaaatatgg tgcaagggat ccagagacta aaatatggaa cggcatggtt
     1741 ggggaacttg tctatgggag agctgatata gctgttgctc cactcactat aacattggtc
     1801 cgtgaagaag tcatagattt ttcaaagcca ttcatgagcc tgggcatctc catcatgata
     1861 aagaagcctc agaaatcaaa accaggcgta ttctcatttc tggatcccct ggcttatgaa
     1921 atctggatgt gcattgtctt tgcttacatt ggagtcagcg tagttctttt cctagtcagc
     1981 aggttcagtc cttatgaatg gcacttggaa gacaacaatg aagaacctcg tgacccacaa
     2041 agtcctcctg atcctccaaa tgaatttgga atatttaaca gtctttggtt ttccttgggt
     2101 gcctttatgc agcaaggatg tgatatttct ccaagatcac tctccgggcg cattgttgga
     2161 ggggtttggt ggttcttcac cctgatcata atttcttcct atactgccaa tctcgctgct
     2221 ttcctgactg tggagaggat ggtttctccc atagagagtg ctgaagactt agctaaacag
     2281 actgaaattg catatgggac cctggactcc ggttcaacaa aagaattttt cagaagatcc
     2341 aaaattgctg tgtacgagaa aatgtggtct tacatgaaat cagcggagcc atctgtgttt
     2401 accaaaacaa cagcagacgg agtggcccga gtgcgaaagt ccaagggaaa gttcgccttc
     2461 ctgctggagt caaccatgaa tgagtacatt gagcagagaa aaccatgtga tacgatgaaa
     2521 gttggtggaa atctggattc caaaggctat ggtgtggcaa cccctaaagg ctcagcatta
     2581 agaaatgctg ttaacctggc agtattaaaa ctgaatgagc aaggcctctt ggacaaattg
     2641 aaaaacaaat ggtggtacga caaaggagag tgcggcagcg ggggcggtga ctccaaggac
     2701 aagaccagcg ctctgagcct gagcaatgtg gcaggcgttt tctatatact tgtcggaggt
     2761 ctggggctgg ccatgatggt ggctttgata gaattctgtt acaaatcacg ggcagagtcc
     2821 aaacgcatga aactcacaaa gaacacccaa aactttaagc ctgctcctgc caccaacact
     2881 cagaattatg ctacatacag agaaggctac aacgtgtatg gaacagagag tgttaagatc
     2941 tagggatccc ttcccactgg aggcatgtga tgagaggaaa tcaccgaaaa cgtggctgct
     3001 tcaaggatcc tgagccagat ttcactctcc ttggtgtcgg gcatgacacg aatattgctg
     3061 atggtgcaat gacctttcaa taggaaaaac tgattttttt ttccttcagt gccttatgga
     3121 acactctgag actcgcgaca atgcaaacca tcattgaaat ctttttgctt tgcttgaaaa
     3181 aaaataatta aaataaaaac caacaaaaat ggacatgcaa gattccagta tgcgaaaaaa
     3241 aatcttatta agtcaattca acaaaagcca ttctttgata ccactgcaga gtatataaac
     3301 accatgttct ttaatacaca cacacacaca cacacacaca cacacacaca tttaaattcc
     3361 aattcagcaa agaggcccat ctaagctaaa aaaattaatt cttcctgatt aaaaagaaaa
     3421 aatctgtctc ccagtgtttg ggaagacgga ctggcatttc ttctaggatc tgctgaccag
     3481 atgtttttgg tatttcctgt tggtggtgat gttctgtgca ctctatttcc tttcaatgtt
     3541 gctgaaatgt gtatatcttt agaatgtaaa tgcaacactt aagaaaattc aaacactttg
     3601 gaaaagggac taaacagtga tttctctgtg ttcttgaaat ggttttgtga aaatgctttg
     3661 ataacttccc actcaaagaa gagatttaca gagctttcga aattgacttt gtgtgtagca
     3721 agggacgggg cactatcagg atacctcttg gtgctttcct aaaatggatc ccggggcttt
     3781 ccaaggagcc tggaatttca gctcacagat ctgtttttct tgcttcagtg tgcattttaa
     3841 gtcaatagag ctgagtatct agcattgagg tgagggaaat gctgcctata ctcccagatg
     3901 tgtttagaat atctcagaaa caacactgtg tttagctcgg ctttctctgc taagtatgcc
     3961 tttcaagtgt acaccacgga gacaggaccg cgttgcaagg cgggacagca ggttcagacc
     4021 acagttctca gtctgacttt actcttgcta ggtctgtcct actagctgtt gcctgctacc
     4081 gcccatggct ctccatcgga ctgcatgtgt ccttttctag tttgcaaaga ctaaaatgca
     4141 ttcccaaacc tactgctaat ctgagggcct cagcatcact tccagatcct tgcttggagc
     4201 agtctctcta ttgactctct cagatcgctc cactgctcca tgggctatca agtaactaac
     4261 tgcatacctg ccgttggcat catcagaaca gtccgaagaa atagtctcca ctcactaatt
     4321 acctcctata taacgacgta tgcttcctgt agttcagtag tttgctctca tcgataacgt
     4381 gcattgggaa gtttccagac tgcaaaaact aggagctcgc attcatttcc caagtgtgac
     4441 ccttagatgc ttagttgact cgctgcatat ttgctcttgt cttcagaaaa gaaaggaaga
     4501 agtatcgttc caacgaaatg tttccagaaa agtgtactat aaactttcat tccaaaaatg
     4561 gtgtcataag caaacaactc acttgtcaaa tttcaaatgg tattgaacaa aaaaagaaag
     4621 ctgttgtgtt tttgttttgt tttgttttca tgaaactgtg attttcaact tatgaatgct
     4681 ataatgtccc agcgcgggaa gctcacgctg tgtgaacatg aagttgtata aaacaaacca
     4741 accaacctac acacaaatgt tttcataggc actgtataaa gaaaaatgta tgtttattaa
     4801 ctcaaatcag tttttcagag aggaaacgtc actgagatga agaggcgggt aaattggttt
     4861 gttatttttt aaaaaaaact tgcatgttta aaaaaaagtt gattgcttca aatttctgct
     4921 actaacttca agctatggga gtttggcagt agtcacttga ggattttttt tccaattctt
     4981 ttctttttgt tgttaaagct gtacttcagt gaacagaaaa attgccaagc aaactaatgg
     5041 ctataaaagc gtaatttgca tgtgtgggca taaactacag agcctcattg ccatgaggta
     5101 ttgtacaaag ttttaataca ttttgtaaat aaaattgtaa agaaagaa
//
LOCUS       NM_000829               5506 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens glutamate ionotropic receptor AMPA type subunit 4
            (GRIA4), transcript variant 1, mRNA.
ACCESSION   NM_000829
VERSION     NM_000829.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5506)
  AUTHORS   Vega-Benedetti AF, Loi E, Moi L, Restivo A, Cabras F, Deidda S,
            Pretta A, Ziranu P, Orru S, Scartozzi M, Zorcolo L and Zavattari P.
  TITLE     Colorectal cancer promoter methylation alteration affects the
            expression of glutamate ionotropic receptor AMPA type subunit 4
            alternative isoforms potentially relevant in colon tissue
  JOURNAL   Hum Cell 35 (1), 310-319 (2022)
   PUBMED   34719006
  REMARK    GeneRIF: Colorectal cancer promoter methylation alteration affects
            the expression of glutamate ionotropic receptor AMPA type subunit 4
            alternative isoforms potentially relevant in colon tissue.
REFERENCE   2  (bases 1 to 5506)
  AUTHORS   Herbrechter R, Hube N, Buchholz R and Reiner A.
  TITLE     Splicing and editing of ionotropic glutamate receptors: a
            comprehensive analysis based on human RNA-Seq data
  JOURNAL   Cell Mol Life Sci 78 (14), 5605-5630 (2021)
   PUBMED   34100982
REFERENCE   3  (bases 1 to 5506)
  AUTHORS   Yue J, Zhu T, Yang J, Si Y, Xu X, Fang Y and Fu W.
  TITLE     CircCBFB-mediated miR-28-5p facilitates abdominal aortic aneurysm
            via LYPD3 and GRIA4
  JOURNAL   Life Sci 253, 117533 (2020)
   PUBMED   32151690
REFERENCE   4  (bases 1 to 5506)
  AUTHORS   Zhou H, Cheng Z, Bass N, Krystal JH, Farrer LA, Kranzler HR and
            Gelernter J.
  TITLE     Genome-wide association study identifies glutamate ionotropic
            receptor GRIA4 as a risk gene for comorbid nicotine dependence and
            major depression
  JOURNAL   Transl Psychiatry 8 (1), 208 (2018)
   PUBMED   30287806
  REMARK    GeneRIF: Study identifies glutamate ionotropic receptor GRIA4 as a
            risk gene for comorbid nicotine dependence and major depression.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5506)
  AUTHORS   Aruscavage PJ and Bass BL.
  TITLE     A phylogenetic analysis reveals an unusual sequence conservation
            within introns involved in RNA editing
  JOURNAL   RNA 6 (2), 257-269 (2000)
   PUBMED   10688364
REFERENCE   6  (bases 1 to 5506)
  AUTHORS   Fletcher EJ, Nutt SL, Hoo KH, Elliott CE, Korczak B, McWhinnie EA
            and Kamboj RK.
  TITLE     Cloning, expression and pharmacological characterization of a human
            glutamate receptor: hGluR4
  JOURNAL   Recept Channels 3 (1), 21-31 (1995)
   PUBMED   8589990
REFERENCE   7  (bases 1 to 5506)
  AUTHORS   Lomeli H, Mosbacher J, Melcher T, Hoger T, Geiger JR, Kuner T,
            Monyer H, Higuchi M, Bach A and Seeburg PH.
  TITLE     Control of kinetic properties of AMPA receptor channels by nuclear
            RNA editing
  JOURNAL   Science 266 (5191), 1709-1713 (1994)
   PUBMED   7992055
REFERENCE   8  (bases 1 to 5506)
  AUTHORS   Hardy M, Younkin D, Tang CM, Pleasure J, Shi QY, Williams M and
            Pleasure D.
  TITLE     Expression of non-NMDA glutamate receptor channel genes by clonal
            human neurons
  JOURNAL   J Neurochem 63 (2), 482-489 (1994)
   PUBMED   7518497
REFERENCE   9  (bases 1 to 5506)
  AUTHORS   Roche KW, Raymond LA, Blackstone C and Huganir RL.
  TITLE     Transmembrane topology of the glutamate receptor subunit GluR6
  JOURNAL   J Biol Chem 269 (16), 11679-11682 (1994)
   PUBMED   8163463
REFERENCE   10  (bases 1 to 5506)
  AUTHORS   McNamara JO, Eubanks JH, McPherson JD, Wasmuth JJ, Evans GA and
            Heinemann SF.
  TITLE     Chromosomal localization of human glutamate receptor genes
  JOURNAL   J Neurosci 12 (7), 2555-2562 (1992)
   PUBMED   1319477
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.122514.1,
            SRR1803615.113166.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2146411 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000282499.10/ ENSP00000282499.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            undergoes RNA editing       :: PMID: 10688364, 7992055
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001561.4, AP000641.4,
            AP000673.4 and AP000813.4.
            On May 17, 2019 this sequence version replaced NM_000829.3.
            Summary: Glutamate receptors are the predominant excitatory
            neurotransmitter receptors in the mammalian brain and are activated
            in a variety of normal neurophysiologic processes. These receptors
            are heteromeric protein complexes composed of multiple subunits,
            arranged to form ligand-gated ion channels. The classification of
            glutamate receptors is based on their activation by different
            pharmacologic agonists. The subunit encoded by this gene belongs to
            a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole
            propionate)-sensitive glutamate receptors, and is subject to RNA
            editing (AGA->GGA; R->G). Alternative splicing of this gene results
            in transcript variants encoding different isoforms, which may vary
            in their signal transduction properties. Some haplotypes of this
            gene show a positive association with schizophrenia. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1). RNA editing (AGA->GGA) changes Arg765Gly.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5506
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.3"
     gene            1..5506
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /note="glutamate ionotropic receptor AMPA type subunit 4"
                     /db_xref="GeneID:2893"
                     /db_xref="HGNC:HGNC:4574"
                     /db_xref="MIM:138246"
     misc_feature    177..179
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /note="upstream in-frame stop codon"
     CDS             447..3155
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; glutamate receptor 4; AMPA-selective glutamate receptor
                     4; gluR-4; gluR-D; glutamate receptor, ionotrophic, AMPA 4;
                     glutamate receptor, ionotropic, AMPA 4"
                     /codon_start=1
                     /product="glutamate receptor 4 isoform 1 precursor"
                     /protein_id="NP_000820.4"
                     /db_xref="CCDS:CCDS8333.1"
                     /db_xref="GeneID:2893"
                     /db_xref="HGNC:HGNC:4574"
                     /db_xref="MIM:138246"
                     /translation="MRIISRQIVLLFSGFWGLAMGAFPSSVQIGGLFIRNTDQEYTAFR
                     LAIFLHNTSPNASEAPFNLVPHVDNIETANSFAVTNAFCSQYSRGVFAIFGLYDKRSVH
                     TLTSFCSALHISLITPSFPTEGESQFVLQLRPSLRGALLSLLDHYEWNCFVFLYDTDRG
                     YSILQAIMEKAGQNGWHVSAICVENFNDVSYRQLLEELDRRQEKKFVIDCEIERLQNIL
                     EQIVSVGKHVKGYHYIIANLGFKDISLERFIHGGANVTGFQLVDFNTPMVIKLMDRWKK
                     LDQREYPGSETPPKYTSALTYDGVLVMAETFRSLRRQKIDISRRGNAGDCLANPAAPWG
                     QGIDMERTLKQVRIQGLTGNVQFDHYGRRVNYTMDVFELKSTGPRKVGYWNDMDKLVLI
                     QDVPTLGNDTAAIENRTVVVTTIMESPYVMYKKNHEMFEGNDKYEGYCVDLASEIAKHI
                     GIKYKIAIVPDGKYGARDADTKIWNGMVGELVYGKAEIAIAPLTITLVREEVIDFSKPF
                     MSLGISIMIKKPQKSKPGVFSFLDPLAYEIWMCIVFAYIGVSVVLFLVSRFSPYEWHTE
                     EPEDGKEGPSDQPPNEFGIFNSLWFSLGAFMQQGCDISPRSLSGRIVGGVWWFFTLIII
                     SSYTANLAAFLTVERMVSPIESAEDLAKQTEIAYGTLDSGSTKEFFRRSKIAVYEKMWT
                     YMRSAEPSVFTRTTAEGVARVRKSKGKFAFLLESTMNEYIEQRKPCDTMKVGGNLDSKG
                     YGVATPKGSSLRTPVNLAVLKLSEAGVLDKLKNKWWYDKGECGPKDSGSKDKTSALSLS
                     NVAGVFYILVGGLGLAMLVALIEFCYKSRAEAKRMKLTFSEAIRNKARLSITGSVGENG
                     RVLTPDCPKAVHTGTAIRQSSGLAVIASDLP"
     sig_peptide     447..509
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     507..3152
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /product="glutamate receptor 4 isoform 1"
     misc_feature    600..602
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P48058.2); glycosylation site"
     misc_feature    612..614
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P48058.2); glycosylation site"
     misc_feature    1218..1220
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P48058.2); glycosylation site"
     misc_feature    1557..1559
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P48058.2); glycosylation site"
     misc_feature    1665..1667
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P48058.2); glycosylation site"
     misc_feature    1686..1688
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P48058.2); glycosylation site"
     misc_feature    2079..2141
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /note="propagated from UniProtKB/Swiss-Prot (P48058.2);
                     transmembrane region"
     misc_feature    2298..2360
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /note="propagated from UniProtKB/Swiss-Prot (P48058.2);
                     transmembrane region"
     misc_feature    2886..2948
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /note="propagated from UniProtKB/Swiss-Prot (P48058.2);
                     transmembrane region"
     misc_feature    3030..3032
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /note="Phosphoserine, by PKC/PRKCG.
                     /evidence=ECO:0000250|UniProtKB:P19493; propagated from
                     UniProtKB/Swiss-Prot (P48058.2); phosphorylation site"
     misc_feature    2739
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /note="RNA editing at nt 2739 (AGA->GGA) changes Arg765Gly;
                     Region: RNA editing site"
     regulatory      5486..5491
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /note="hexamer: AATAAA"
     polyA_site      5506
                     /gene="GRIA4"
                     /gene_synonym="GluA4; GluA4-ATD; GLUR4; GLUR4C; GLURD;
                     NEDSGA"
                     /note="major polyA site"
ORIGIN
        1 agtggcagaa gagggctagg ctgagaggga agccaggact gtaggagagg gaggcagccc
       61 gtcctcctca cgaacctgca aggatgcggc aggggcctgg gggcatgggg aggtactaac
      121 cccccggagc ccccgattgg ggcttgcaga cctggcccgt gggcggattt tctgcctagc
      181 gcagccgaga agcagaggtg ccaggaaaac caagagaggg gcgctggggg tgcccatccc
      241 cagagtcggt ccctctgcga accgaggaag aaaagaggag ggagtcagcg agtggtcaga
      301 agggaaaacc tgacaccaga ctggctccgg agcgtccggg agactggggc gctccgcgcc
      361 atcgtcttca atgcttctct gaacagcctt taggaagagt gcgagagaaa gagagagagc
      421 gcgcgccagg gagaggagaa aagaagatga ggattatttc cagacagatt gtcttgttat
      481 tttctggatt ttggggactc gccatgggag cctttccgag cagcgtgcaa ataggtggtc
      541 tcttcatccg aaacacagat caggaataca ctgcttttcg attagcaatt tttcttcata
      601 acaccagccc caatgcgtcg gaagctcctt ttaatttggt acctcatgtg gacaacattg
      661 agacagccaa cagttttgct gtaacaaacg ccttctgttc ccagtattct agaggagtat
      721 ttgccatttt tggactctat gataagaggt cggtacatac cttgacctca ttctgcagcg
      781 ccttacatat ctccctcatc acaccaagtt tccctactga gggggagagc cagtttgtgc
      841 tgcaactaag accttcgtta cgaggagcac tcttgagttt gctggatcac tacgaatgga
      901 actgttttgt cttcctgtat gacacagaca ggggatactc gatactccaa gctattatgg
      961 aaaaagcagg acaaaatggt tggcatgtca gcgctatatg tgtggaaaat tttaatgatg
     1021 tcagctatag gcaacttcta gaagaacttg acagaagaca agagaagaag tttgtaatag
     1081 actgtgagat agagagactt caaaacatat tagaacagat tgtaagtgtt ggaaagcatg
     1141 ttaaaggcta ccattatatc attgcaaact tgggattcaa ggatatttct cttgagaggt
     1201 ttatacatgg tggagccaat gttactggat tccagttggt ggattttaat acacctatgg
     1261 taatcaaact aatggatcgc tggaagaaac tagatcagag agagtatcca ggatctgaga
     1321 ctcctccaaa gtacacctct gctctgactt atgatggagt ccttgtgatg gctgaaactt
     1381 tccgaagtct taggaggcag aaaattgata tctcaaggag aggaaatgct ggggattgtc
     1441 tggcaaatcc tgctgctcca tggggccagg gaattgacat ggagaggaca ctcaaacagg
     1501 ttcgaattca agggctgaca gggaatgttc agtttgacca ctatggacgt agagtcaatt
     1561 acacaatgga tgtgtttgag ctgaaaagca caggacctag aaaggttggt tactggaatg
     1621 atatggataa gttagtcttg attcaagatg taccaactct tggcaatgac acagctgcta
     1681 ttgagaacag aacagtggtt gtaaccacaa ttatggaatc cccatatgtt atgtacaaga
     1741 aaaatcatga aatgtttgaa ggaaatgaca agtatgaagg atactgtgta gatttggcat
     1801 ctgaaattgc aaaacatatt ggtatcaagt ataaaattgc cattgtccct gatggaaaat
     1861 atggagcaag ggatgcagac acaaaaatct ggaatgggat ggtaggagaa cttgtttatg
     1921 ggaaagcaga gattgctatt gcccctctga caatcacttt ggtacgagag gaggtcattg
     1981 acttttctaa gcccttcatg agtttgggca tatctatcat gatcaaaaag cctcagaaat
     2041 ccaaaccagg agtgttttcc ttcttggatc ctctggccta tgagatttgg atgtgcatag
     2101 tctttgccta cattggtgtc agcgtggtct tattcctagt tagtagattt agtccatatg
     2161 agtggcacac agaagagcca gaggacggaa aggaaggacc cagcgaccag cctcccaatg
     2221 agtttggcat ctttaacagc ctctggtttt ccctgggtgc ttttatgcag caaggatgtg
     2281 acatttcacc cagatccctc tcaggtcgaa ttgttggagg tgtttggtgg ttctttacac
     2341 tcatcattat atcatcttat actgctaacc tcgctgcttt cctgacggtt gagcgaatgg
     2401 tctctcccat agaaagtgca gaagacctgg ccaaacaaac agaaattgcc tatggaacac
     2461 tggattcagg atcaacaaaa gaattcttca gaagatcaaa aatagcagtg tatgaaaaga
     2521 tgtggaccta catgcgatca gcagagccat cagtattcac taggactaca gctgagggag
     2581 tagctcgtgt ccgcaaatcc aagggcaaat ttgcctttct cctggagtcc actatgaatg
     2641 aatacattga gcagcgaaag ccatgtgaca cgatgaaagt gggaggaaat ctggattcca
     2701 aaggctatgg agtagcaacg cccaagggtt cctcattaag aactcctgta aaccttgccg
     2761 ttttgaaact cagtgaggca ggcgtcttag acaagctgaa aaacaaatgg tggtacgata
     2821 aaggtgaatg tggacccaag gactctggaa gcaaggacaa gacgagtgcc ttgagcctga
     2881 gcaatgtagc aggcgtcttc tacattctgg ttggcggctt gggcttggca atgctggtgg
     2941 ctttgataga gttctgttac aagtccaggg cagaagcgaa gagaatgaag ctgacctttt
     3001 ctgaagccat aagaaacaaa gccagattat ccatcactgg gagtgtggga gagaatggcc
     3061 gcgtcttgac gcctgactgc ccaaaggctg tacacactgg aactgcaatc agacaaagtt
     3121 caggattggc tgtcattgca tcggacctac cataaaaacc aaaaaaataa ttgagtgcct
     3181 taattaaact gttggtgact ggtggaaacg cagccctgag ggacacgcca cgcgcgggtc
     3241 tttgctaaac caatcctttg gctgagagcg ggaagtccgt cctaacgcgc tggccggaca
     3301 tcagcagcag caacgtgtgc atgagctcag ctcggaaacc caaactcaga ttttatatca
     3361 ggaaaactca caattgaggt ttttttcggg gagtgggtgg gggagggatc tgggatgggt
     3421 gtattaacag caacaaattt cattcgagtg gactcaaaaa ctaatcagac ttatgagtta
     3481 gcgcattaaa ctgtgaagtt cttgctcaga aaggcctttg tcttcaccgg aaaggataaa
     3541 atagttgtag aagtccgtga acatgctaac ctgtgtctcc agaacatcca tatagtccat
     3601 ggaagaaaat ccagctgaga aaacaaatca ctaaactgtg ataagaaaat aatgaacaaa
     3661 catgtaaaac ctgtgggaaa aaaaaataaa ggaagtatgt acacttactt tggagaaaac
     3721 aaatactgaa acatgcttgc tttttaactg acgtaaattc agtagaggac aacacaattc
     3781 ttttttctaa ccatcttagg gaacaataca ttgcaataat tgatataaat gccatcactg
     3841 taataaactt tagagacttt tttttataaa agttgttggt catcttcttg tttgctgtaa
     3901 ccttcactat gtcacatgag tcgattcacc gattgcattt gtctcacaac caggaagaaa
     3961 agcaaaagga agaaaacgtt taggttcaat catcagtctg cggtgtagac tcgaaagaga
     4021 tgacaggtca ctcatgttaa tggtattatt tataatctca ttctgtgtac aacattgtgg
     4081 tttttgtacc caccaaaaag aataaaacag cagatgttct tacaatatct acagagctta
     4141 aaagtttttt cttatcgtta taaaagttat ttgagaaatt ataagactat aagagagatt
     4201 gtattagtgg tgggccatag tggaaaatgt agctagccct cattattttt tgcatactaa
     4261 gctacccctc cttttcagat ctttgactca ttaacagatt aaactgtcaa agatggagtc
     4321 tttgagttgg ggaatgaatc actgtcctaa caacaacata ccttgtaatt gtgtgttgaa
     4381 attttacttg actgtatttt gctgcataaa attatgtgtc tcttgggctt cttcccttat
     4441 tcctattgtt ccctttaaat catatgaagg cattcataat agcttggggt agataacaaa
     4501 tgaagaatta gtctttgttt tcaactggaa attgtaaaga aaattatact catgtttatt
     4561 tataaaaatc accttatgta tgaattaaac taacatggtt caaaagaagg tttggttcat
     4621 ttgaaataat aaataagtac tctaatacag ataaaaatca tgtacttagg gtattggcag
     4681 aaagcacaag ttaggatgat ttcagaagtc tggccttgaa ggatgagttg agttttaaca
     4741 ggaggagaag gtgttaagag ccatatgagt gagcagtggc ccaaagccat gcacatcagt
     4801 ggctcattta aggaatgaat gccattagat gggctactga gagtacaggg atattatgga
     4861 agataaagtt ggaaaagctg aaggattgat tttcttccat caactctcaa gatcccattc
     4921 gccattcaat ctctgtgctg cagtaagagc aatcttaaac agtataaatc acacacacac
     4981 acacacacac acacacacac acacacaagt ccctcaggaa aaattccaag ctcttgagaa
     5041 gatcacatga gccccttcat gacctggcgc ttgcttattt cttccaggac ttctctcact
     5101 tctatccagc tattcccgtc agcaaatgaa cctccaaagc agcacatgga gcactgcata
     5161 gactatttcc tcagtgcgta actcctccct gtctcctctt tacctgagta acttgtactc
     5221 atccttcaat actccaactg aattttactt accctgaaaa gatttccatg gctatccacc
     5281 acccccctgc ctgtgagact gagttaggtg ccctttttca tgtctttccc ccatcacggc
     5341 acttaccata ctgcgttgta attgcctgtg tactcgtctg tataactact agactgtaag
     5401 ctccttgagg gcagggactg tgtctatctt gttcacagtt gtatccccag cacccagcac
     5461 agtgcctggc atattgtagg tgcttaataa atatttgttg aatgaa
//
LOCUS       NM_000831               9491 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens glutamate ionotropic receptor kainate type subunit 3
            (GRIK3), mRNA.
ACCESSION   NM_000831
VERSION     NM_000831.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9491)
  AUTHORS   Fang G, Wu Y and Zhang X.
  TITLE     CircASXL1 knockdown represses the progression of colorectal cancer
            by downregulating GRIK3 expression by sponging miR-1205
  JOURNAL   World J Surg Oncol 19 (1), 176 (2021)
   PUBMED   34127015
  REMARK    GeneRIF: CircASXL1 knockdown represses the progression of colorectal
            cancer by downregulating GRIK3 expression by sponging miR-1205.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 9491)
  AUTHORS   Xiao B, Kuang Z, Zhang W, Hang J, Chen L, Lei T, He Y, Deng C, Li W,
            Lu J, Qu J, Zhou Q, Hao W, Sun Z and Li L.
  TITLE     Glutamate Ionotropic Receptor Kainate Type Subunit 3 (GRIK3)
            promotes epithelial-mesenchymal transition in breast cancer cells by
            regulating SPDEF/CDH1 signaling
  JOURNAL   Mol Carcinog 58 (7), 1314-1323 (2019)
   PUBMED   30977227
  REMARK    GeneRIF: Mechanically, GRIK3 influenced a range of signaling
            pathways and key signal transducers, including two
            epithelial-mesenchymal transition regulators, SPDEF and CDH1.
            Moreover, overexpression of GRIK3 increased the expression of
            mesenchymal markers and decreased the expression of epithelial
            markers, resulting in the translocation of beta-catenin into the
            nucleus and the increased beta-catenin transcriptional activity.
REFERENCE   3  (bases 1 to 9491)
  AUTHORS   Gong B, Li Y, Cheng Z, Wang P, Luo L, Huang H, Duan S and Liu F.
  TITLE     GRIK3: A novel oncogenic protein related to tumor TNM stage, lymph
            node metastasis, and poor prognosis of GC
  JOURNAL   Tumour Biol 39 (6), 1010428317704364 (2017)
   PUBMED   28631555
  REMARK    GeneRIF: additional experiment showed that the lymph node metastasis
            tissues had higher GRIK3 expression than their matched primary
            gastric cancer (GC) tissues. These findings suggested that elevated
            GRIK3 expression could serve as an independent prognostic biomarker
            and a novel potential treatment target for patients with GC.
REFERENCE   4  (bases 1 to 9491)
  AUTHORS   Wang Y and Tatakis DN.
  TITLE     Human gingiva transcriptome during wound healing
  JOURNAL   J Clin Periodontol 44 (4), 394-402 (2017)
   PUBMED   28005267
  REMARK    GeneRIF: GRIK3 expression is significantly downregulated in human
            masticatory mucosa during wound healing
REFERENCE   5  (bases 1 to 9491)
  AUTHORS   Takenouchi T, Hashida N, Torii C, Kosaki R, Takahashi T and Kosaki
            K.
  TITLE     1p34.3 deletion involving GRIK3: Further clinical implication of
            GRIK family glutamate receptors in the pathogenesis of developmental
            delay
  JOURNAL   Am J Med Genet A 164A (2), 456-460 (2014)
   PUBMED   24449200
  REMARK    GeneRIF: 1p34.3 deletion involving GRIK3: Further clinical
            implication of GRIK family glutamate receptors in the pathogenesis
            of developmental delay. Review article
REFERENCE   6  (bases 1 to 9491)
  AUTHORS   Ripellino JA, Neve RL and Howe JR.
  TITLE     Expression and heteromeric interactions of non-N-methyl-D-aspartate
            glutamate receptor subunits in the developing and adult cerebellum
  JOURNAL   Neuroscience 82 (2), 485-497 (1998)
   PUBMED   9466455
REFERENCE   7  (bases 1 to 9491)
  AUTHORS   Flor PJ, Van Der Putten H, Ruegg D, Lukic S, Leonhardt T, Bence M,
            Sansig G, Knopfel T and Kuhn R.
  TITLE     A novel splice variant of a metabotropic glutamate receptor, human
            mGluR7b
  JOURNAL   Neuropharmacology 36 (2), 153-159 (1997)
   PUBMED   9144652
REFERENCE   8  (bases 1 to 9491)
  AUTHORS   Roche KW, Raymond LA, Blackstone C and Huganir RL.
  TITLE     Transmembrane topology of the glutamate receptor subunit GluR6
  JOURNAL   J Biol Chem 269 (16), 11679-11682 (1994)
   PUBMED   8163463
REFERENCE   9  (bases 1 to 9491)
  AUTHORS   Nutt SL, Hoo KH, Rampersad V, Deverill RM, Elliott CE, Fletcher EJ,
            Adams SL, Korczak B, Foldes RL and Kamboj RK.
  TITLE     Molecular characterization of the human EAA5 (GluR7) receptor: a
            high-affinity kainate receptor with novel potential RNA editing
            sites
  JOURNAL   Recept Channels 2 (4), 315-326 (1994)
   PUBMED   7719709
REFERENCE   10  (bases 1 to 9491)
  AUTHORS   Puranam RS, Eubanks JH, Heinemann SF and McNamara JO.
  TITLE     Chromosomal localization of gene for human glutamate receptor
            subunit-7
  JOURNAL   Somat Cell Mol Genet 19 (6), 581-588 (1993)
   PUBMED   8128318
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.159793.1, U16127.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2145544 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000373091.8/ ENSP00000362183.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355386.9, DR003075.1,
            AJ249210.1, U16127.1, AW898512.1, AC117945.2, BG818719.1,
            DT217951.1, BQ446793.1 and BG057125.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000831.3.
            Summary: Glutamate receptors are the predominant excitatory
            neurotransmitter receptors in the mammalian brain and are activated
            in a variety of normal neurophysiologic processes. This gene
            product belongs to the kainate family of glutamate receptors, which
            are composed of four subunits and function as ligand-activated ion
            channels. It is not certain if the subunit encoded by this gene is
            subject to RNA editing as the other 2 family members (GRIK1 and
            GRIK2). A Ser310Ala polymorphism has been associated with
            schizophrenia, and there are conflicting reports of its association
            with the pathogenesis of delirium tremens in alcoholics. [provided
            by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..9491
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..9491
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="glutamate ionotropic receptor kainate type subunit
                     3"
                     /db_xref="GeneID:2899"
                     /db_xref="HGNC:HGNC:4581"
                     /db_xref="MIM:138243"
     CDS             408..3167
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="excitatory amino acid receptor 5; glutamate receptor
                     7; dJ1090M5.1 (glutamate receptor, ionotropic, kainate 3
                     (GLUR7)); gluR-7; glutamate receptor ionotropic, kainate 3"
                     /codon_start=1
                     /product="glutamate receptor ionotropic, kainate 3
                     precursor"
                     /protein_id="NP_000822.2"
                     /db_xref="CCDS:CCDS416.1"
                     /db_xref="GeneID:2899"
                     /db_xref="HGNC:HGNC:4581"
                     /db_xref="MIM:138243"
                     /translation="MTAPWRRLRSLVWEYWAGLLVCAFWIPDSRGMPHVIRIGGIFEYA
                     DGPNAQVMNAEEHAFRFSANIINRNRTLLPNTTLTYDIQRIHFHDSFEATKKACDQLAL
                     GVVAIFGPSQGSCTNAVQSICNALEVPHIQLRWKHHPLDNKDTFYVNLYPDYASLSHAI
                     LDLVQYLKWRSATVVYDDSTGLIRLQELIMAPSRYNIRLKIRQLPIDSDDSRPLLKEMK
                     RGREFRIIFDCSHTMAAQILKQAMAMGMMTEYYHFIFTTLDLYALDLEPYRYSGVNLTG
                     FRILNVDNPHVSAIVEKWSMERLQAAPRSESGLLDGVMMTDAALLYDAVHIVSVCYQRA
                     PQMTVNSLQCHRHKAWRFGGRFMNFIKEAQWEGLTGRIVFNKTSGLRTDFDLDIISLKE
                     DGLEKVGVWSPADGLNITEVAKGRGPNVTDSLTNRSLIVTTVLEEPFVMFRKSDRTLYG
                     NDRFEGYCIDLLKELAHILGFSYEIRLVEDGKYGAQDDKGQWNGMVKELIDHKADLAVA
                     PLTITHVREKAIDFSKPFMTLGVSILYRKPNGTNPSVFSFLNPLSPDIWMYVLLAYLGV
                     SCVLFVIARFSPYEWYDAHPCNPGSEVVENNFTLLNSFWFGMGSLMQQGSELMPKALST
                     RIIGGIWWFFTLIIISSYTANLAAFLTVERMESPIDSADDLAKQTKIEYGAVKDGATMT
                     FFKKSKISTFEKMWAFMSSKPSALVKNNEEGIQRALTADYALLMESTTIEYVTQRNCNL
                     TQIGGLIDSKGYGIGTPMGSPYRDKITIAILQLQEEDKLHIMKEKWWRGSGCPEEENKE
                     ASALGIQKIGGIFIVLAAGLVLSVLVAVGEFVYKLRKTAEREQRSFCSTVADEIRFSLT
                     CQRRVKHKPQPPMMVKTDAVINMHTFNDRRLPGKDSMACSTSLAPVFP"
     sig_peptide     408..500
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     501..3164
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /product="glutamate receptor ionotropic, kainate 3"
     misc_feature    615..617
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13003.3); glycosylation site"
     misc_feature    633..635
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13003.3); glycosylation site"
     misc_feature    1239..1241
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13003.3); glycosylation site"
     misc_feature    1548..1550
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13003.3); glycosylation site"
     misc_feature    1650..1652
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13003.3); glycosylation site"
     misc_feature    1683..1685
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13003.3); glycosylation site"
     misc_feature    1704..1706
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13003.3); glycosylation site"
     misc_feature    2049..2051
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13003.3); glycosylation site"
     misc_feature    2058..2060
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13003.3); glycosylation site"
     misc_feature    2097..2159
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13003.3);
                     transmembrane region"
     misc_feature    2316..2378
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13003.3);
                     transmembrane region"
     misc_feature    2661..2663
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13003.3); glycosylation site"
     misc_feature    2868..2930
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13003.3);
                     transmembrane region"
     misc_feature    3012..3014
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q13002; propagated from
                     UniProtKB/Swiss-Prot (Q13003.3); phosphorylation site"
     misc_feature    1335
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="a T>G variation changes Ser310Ala. This polymorphism
                     has been associated with schizophrenia; Region: polymorphic
                     site"
     regulatory      9467..9472
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="hexamer: AATAAA"
     polyA_site      9491
                     /gene="GRIK3"
                     /gene_synonym="EAA5; GLR7; GluK3; GLUR7; GluR7a"
                     /note="major polyA site"
ORIGIN
        1 gtgcgagccc gggcgatagc atcggcggcg gctggaggag gagcggccgg agacgcgtgc
       61 agcccgcccg ccagagcccg gcagccgggg caggtgggag cccgcgcggg agccgagccg
      121 acgcgagtcg gagccggagc cgagtccgag cggagtccgg gcggagccca ggagcctcgc
      181 tcgcgggcag cccgtgggcg gcagccaggc ggggcgggcg ccggcggggc ggccccccag
      241 taagatgtgc gcggcgccgc ggggcgcccc ccacttgcag cggcgctcgg gagccgggcg
      301 gctgggccag gcggcgcctt cggggctgct gcgcgcccgc gcctagagct gccgccccag
      361 ggagcccgcc acggccgcgc cccgggcacg ctcggcggcg cccaacgatg accgctccct
      421 ggcggcgcct ccggagtctg gtttgggaat actgggccgg gctcctcgtg tgcgccttct
      481 ggatcccgga ctcgcgcggg atgccccacg tcatccggat cggaggaatc ttcgagtatg
      541 cggacggccc caacgcccag gtcatgaatg ccgaggagca tgcctttcga ttttctgcca
      601 acatcatcaa caggaacagg actctgctgc ccaacacaac cttgacctat gacatacaga
      661 ggattcactt ccatgacagc ttcgaggcga ccaaaaaggc ctgtgaccag ctggcactgg
      721 gcgtggtggc gatcttcggc ccatcacagg gctcctgcac caatgccgtc cagtccatct
      781 gcaatgccct ggaggtgccc cacatccagc tgcgttggaa gcaccacccg ctggacaaca
      841 aggacacctt ctacgtgaac ctctaccccg actacgcctc gctcagccat gccatcctcg
      901 acctggtcca gtacctcaag tggcggtcag ccaccgtggt ctatgacgac agtacagggc
      961 tcatccgact gcaggagctc atcatggccc catcaagata caacatccgc ctgaagatcc
     1021 gtcagctccc catcgactct gacgactcgc gccccttgct caaggagatg aagcgaggcc
     1081 gggaattccg cattatcttc gactgcagcc acactatggc ggcccagatc ctcaagcagg
     1141 ccatggccat gggcatgatg actgagtact accacttcat cttcaccact ctggatctct
     1201 acgctttaga cctggagccc taccgctact caggcgtgaa cctgacagga ttccggattc
     1261 tcaatgtgga caacccacac gtctcggcca ttgtggagaa gtggtccatg gagcggctgc
     1321 aggcagctcc ccggtccgag tctggcctgc tggatggagt gatgatgact gatgcagcct
     1381 tactgtacga cgccgtccat atcgtgtccg tgtgctacca gcgggcacca cagatgaccg
     1441 tgaactccct gcagtgccat cggcacaagg cctggcgctt tggcggccgc ttcatgaact
     1501 tcatcaagga ggctcaatgg gaaggattaa ctggacgaat tgttttcaac aaaactagtg
     1561 gcttgcggac ggattttgat ctggacatca tcagcctgaa agaggatggc ctggagaagg
     1621 ttggggtgtg gagtcctgcc gacgggctca acatcactga ggttgccaaa ggccgaggcc
     1681 ctaatgtcac cgactctctg acaaacagat cactcattgt caccacagtg ctggaggagc
     1741 ccttcgtcat gtttcggaaa tcagacagga cgctatacgg gaatgaccgg ttcgagggct
     1801 actgcatcga cctgctaaag gagctggccc acatccttgg tttctcctat gagatccggc
     1861 tggtggagga cggcaagtac ggggcacagg atgacaaggg ccagtggaac ggcatggtca
     1921 aggagctcat cgaccacaag gcagatctgg ccgtggcccc cctgaccatc acccatgttc
     1981 gagagaaggc catcgacttc tccaagccct tcatgacact tggtgtgagc atcctgtatc
     2041 gaaagcccaa tggcaccaac cccagcgtct tctccttcct caatcccctg tccccagaca
     2101 tctggatgta tgttctcctc gcctacctgg gggtcagctg tgtcctcttc gtcatcgcca
     2161 ggttcagccc ttatgagtgg tacgatgctc acccctgcaa ccctggctcc gaggtggtgg
     2221 aaaataactt cactctgctt aacagcttct ggtttggaat gggatccctg atgcagcaag
     2281 ggtctgagct gatgcccaaa gccctgtcca cacgcatcat tggtggcatc tggtggttct
     2341 tcacgctcat catcatctct tcctacacgg ccaacctggc tgcctttctg accgtggagc
     2401 gcatggaatc acccattgac tctgctgatg acctggccaa gcaaaccaaa atcgagtatg
     2461 gggctgtcaa ggatggggcc accatgacct tcttcaagaa atccaagatc tccaccttcg
     2521 agaagatgtg ggccttcatg agcagcaagc catcggcgct ggtgaagaac aacgaggagg
     2581 gcatccagag ggccctgacg gccgactacg cgctgctcat ggagtccacc accatcgagt
     2641 acgtcacgca gaggaactgc aacctcaccc agatcggggg cctcattgac tccaagggct
     2701 acggcatcgg cacgcccatg ggctccccat accgggacaa gatcaccatc gccatcctgc
     2761 agcttcagga ggaggacaag ctgcatatca tgaaggagaa gtggtggcgg ggcagcgggt
     2821 gtcctgagga ggaaaacaaa gaggccagtg ccctggggat ccagaagatc gggggcatct
     2881 tcattgtcct ggccgccggg ctggtcctct ctgtgctggt ggccgtgggc gagtttgtgt
     2941 acaagctccg caaaacagca gagagagagc agcgttcctt ctgcagcacc gtggccgatg
     3001 agatccgttt ctcccttacc tgccagcgtc gagtcaagca caagcctcag cctcccatga
     3061 tggtcaagac tgacgccgtc atcaacatgc acacattcaa tgaccgccgg cttcccggca
     3121 aggacagcat ggcctgcagc acatccttag cccctgtgtt cccctaggca cagctggggt
     3181 ggggacctca ggcctggggg ctgggcagag gaaagcaaag gagattggaa ggaacgtccc
     3241 ctgtccccgc actgggcttg gggaccagag ctgccacctg cctgttgggc caggagcctc
     3301 ctgcccttac ctgccaggaa gccagcaggc tctcaggcca gctgcttggg cttcatcctc
     3361 ctcagatctt ctgtgggttt ctaaagctgc cagccgagat agccaaggcc aaaggaagca
     3421 catgcctctc tcaggccaaa ctcacctgcc cctcaactct cctccagagt cagaagtttc
     3481 tgccgcagcc ctgcagaggg cacagaaaat ggaagacagc tcttatattg ccatttcttc
     3541 cacaagagcc caggcctcct acagcttgac cgtgaggcca gagacacaag ccttcggcgc
     3601 cttaaggatg ttctagcatg gctgccaatg ggagctcatg gtgagggata cccatcccat
     3661 atgcctgggc agaaggaaga cttcatccct ctggggctgt tcacgtggtc ctaatcttct
     3721 gaacttggcg ctgcccctgg cagcccctgt tctggcagag ttgaagacag agctacacag
     3781 gggaaaagag gagtttgggg tatgggagag aagagaatgc acaaacagag gccgccattt
     3841 tggattctta tggacaatga cccagtggtt cctaatcctc taggaggtct ctaagaatat
     3901 aagtggggga gtggccacag aaaattcttc tccactttct agccagagga gagaggaccc
     3961 cctgaatttc tcacaaagga tgcccaaaga tgcagccggt atttgaagcc cagcagagga
     4021 aaagcagatt ccatggaagt cccaccggct cttgtgccaa tggatctcac tttcctggtt
     4081 agcaagctgt tgtctaaacc ctgttcacat ttggaaacct gggctctttg ccatcttctc
     4141 atcaacaact ccccattcct ggctggttga ccttggcctc actctgtctt tttgaaagaa
     4201 gagttggttg aagtgaaagt caagttgtcc ctcctcaaaa aaggagttag tgtcctacta
     4261 cacagactaa ctttgggcta ggtgagggaa accagaagag accaaaagaa cttctggtct
     4321 cctggactta ccaaacctag agatgctccc caggaaaaga aagtttccag ggacataata
     4381 tcatagctgg cagaggcccc aagggtgggg aggaagaagc tgcctcctgg agaattaacc
     4441 aaagacccca cacagagaca tgaggccatc ctggcccctt gtctgttgtc cagagcagct
     4501 atggcattgt ggggcttggg gaagacagca gagaagtagc agcaggttgg gtaccagcca
     4561 gggggtggac ctatgagttc cagcttgctg tgatgaatgc tctagaggtc tgtgacttta
     4621 agagtcttgg aaaagaatga gacatgaagg attaggaaca aagtgtcctt aaagagaaca
     4681 tgatgggcca gcagggttac catggccaag gatggagggg caggttttga acaggggagg
     4741 gaggttctgg ggattctgga tgagaactgg ggcataccag ccactcccct cccacctctg
     4801 tcccatgctg cttgggaagc ccggttaggg aagagcttca tttggatctc aagggctttc
     4861 tcatctgggt gaagggcaat ctctagcaaa gcaggagacc acagtgggct catgtgataa
     4921 acactgtccc tcctccagac tgtgagctgc aggaccaaac cagcaggttc ccagaatcct
     4981 agcagctctg actggctatg tacattggac gagggagagg agggctagac atacaccaaa
     5041 gccccatgca tgtaatgtta ggaaaagcca tgctgtcata agcttcaggg tacagagggc
     5101 gtgtgcatgt gtgtctgtgt ctttgtgttt gtatgtgtga gcttcggggg ctggggcaca
     5161 ggacagatct ggacatataa catagtccag ggcatgcaat aataggtgaa tccttgggga
     5221 tctgatgtgt gcatatgcgt gcgtatgtgt atctgagtga attggggacg agggagacaa
     5281 atatgtgaag cagcaaggcc ccatatatgt aaaaacagga gaagccatgt cataatgggg
     5341 ccctggtggg tatgcatatg taagcatgca tgcatgcata ggtgtgtgca tgctggtgtg
     5401 tgtgtgtgca catgtacact gaatggcata ggatggagat caggatctta cctgcagcta
     5461 gccaaatatg cgtaaaagga gaagccatgt caccaagggg tccatgtctg agtgcatgtg
     5521 aacacatgtg tacaggcatg tgtgcacagt ggggagcggg gggaaggcca ggaccagaga
     5581 gtcgtgtgac atgggtcaat gcatgctgta gacaagaagc cacgtggagt tgaagtttcc
     5641 gagtgtgtgg gacacacaca tatgttccag gtcacagtgg aagcaaagac agacaatcag
     5701 gaaggccggg caccagggtc tgtttgcact tctgtcatgg gagagatcat ttgtcacaga
     5761 gaggttccaa ggttgcatgg gcacacttgc caggagacgg gggcacaacc cttcaggggc
     5821 tcatgctgct gatgcctttg ctgtggacat catgtcctgt ttgaagggaa aactcttttt
     5881 tgtaattccc aggtaacagg attctaatga aggtatttgc caatttgctg tcagcaaaca
     5941 caatcattaa gcgccgtctt actttgtcca gtatagtttc agagcacgtg cctcattctt
     6001 gctcttgtct cacacatgtg ttgtgtgtgt gatgctacat gagcatgttc ttcagaggct
     6061 atgcatatat gtggattgtg acaggaggaa gaagaagtgg tgagaatttt tataaaacga
     6121 acaaagaata gtggataaat agaggcagaa ttcaattcga gaaacccccc aaaatgtacc
     6181 gactggtctt tagactcctg tgtggaagca ggagggcatg ctgcctcatc tcctctccca
     6241 ggcaaacctt gcgtcctgat gttcaggtgt tgtcggtgtg gctgatattt ggcttctggc
     6301 caatatcctg catttgtcct agagaccagc ctagtgttca aagtgcagtg gggaccacag
     6361 ctgcccaagc atgagctctg tctctcccgg ggcactgaaa atgatgctac atctgtgagg
     6421 tgggacggag tggggaggtg ttttcagtga ggcagatctt gtgttttttt aagtttaggt
     6481 ctgtcctgcc agtgggcatg gagctgagct ggggcaggtg catgcgtgtg tgtgtatgtg
     6541 tgtgtatgca tgtgtagtgt gtgtgcacac acgcaggcac tgagaggtga tgggaagcat
     6601 gaaagcttgc ttggatggag cagaagaagg aacctgcctg agcagatgct ggactgtccc
     6661 tgcgtggtgc cacatgccag ccctgaacag aagaatgtcc ccactgcatc cccaaatgca
     6721 agtgcctcct ctccacctgc tcaagctggc caagttgagg ggcagtggta agaagacacc
     6781 aaccccaccg cccctgccga ggccctggga ctaaggacag tgagccctcc caatcactct
     6841 ccccttgtcc tgctgctggt ttctctgctc tggacagaag aaaatcctga aagcgttgtc
     6901 aatgttcaag tggccccatg ctgcaagagt ctctcgcgag gggtgacgcc cccttggcca
     6961 gtgtgctgga ctttgagtgt ctgaggggta agagggccac cccctcctca cagccgagac
     7021 tctatctaac ctggaagcac actctggctc cacccccaac ccctgccatg ccctaggccc
     7081 tggaagatgg gaatcctggc ccaggccagg gtaaagggcc aaacaggtta gaagttgctc
     7141 ccctccacca ggcgtgcact caccaagaac gatcaaaagc tccctttctg cctacttttc
     7201 caggggtact gggtgtgggg ggtgggtcac agctcctgct tcatcactca gcatgaagtt
     7261 ggtccctccc tgagccactc ccagctacat gcacaaacat ctgaaagtag gctggcctct
     7321 ctggctcaca tctggagtgg tcctgtgtgg atacccatct gcaaaggggc tagaggtttg
     7381 gacaaacagc tgcatggact tatcatctgg gatgggccca gcctcatgga cagatacaag
     7441 aaatgagccc aactctgtgg gcaggtctct ggattagaca catctgaaag ttgcaggtca
     7501 agtggacaca tctggaagtg gcccggctgc tggctgccat ggaagggccg tgccctctgt
     7561 ccccatggca gtttaaatca ggccttccct tcagtcctgg atttgccctg gagtaaaaat
     7621 ttcagagctg aggtcatacg tgagtcacaa aacttttagg tagaaggtta atgttctgta
     7681 caatatatat atgaatgtaa aatatatata tatactgtat atatatatat atatgcacag
     7741 tgtatatatg acctgtagcc catgtgtata caaccctttc ctgcacgtct gcacacggag
     7801 tgtacagaac ccagccagca cgggtgagga ccagatgaga gatgggggct gcagcagcaa
     7861 agtctgggac ggaggtctca gagagcccct tggggtggcg aaggccctcc acacatcaga
     7921 gctccagacc ctgaagaaga gggcagagct acatggtgct gccaggtgag tcctgcaccg
     7981 ccagggcctc ctgtgggagg ggcaggaatg gccaacggac ctcatctcca tccgagcctg
     8041 tctgaggcag gacagctggg tgtgtctgag aagcaatgtc atgctagtac tcagcccctg
     8101 tgccaatatt acattctagt tctggggcaa ttcatcagga gcagaagggc tgggaaagag
     8161 caggccactc cccaggcctg ttctcacacc tgcctgcaga atcacaggta ggtttcaggc
     8221 tccatctagg ataccctaga aggcggggct attctaggta gcaaaagcct ctgcctctga
     8281 ttctcaccca catgcagaag cagtcacaac ttgcacacaa cacagctcac aactagggaa
     8341 agcacttgtt aaagagaatg cccccagggc atggccagca tgccgataca gtgttcccat
     8401 gcccctgtta ctgatcctgt cctcctgcct tctagaacag tggacctcac atcacctccc
     8461 agattgtctc cattttatgg attgaaactc tgaggcctcc agacatgaag aagcagccat
     8521 agattcagtc aaatgccagc caagggtttg ccttgcctca gacaacctcc ccagccccat
     8581 ttgacccaga gaccagctgt cagggagcga cctcagagcc agaggggtga aagatgagag
     8641 gcaagaaggt agctcctatc ctagcacagc ccaggctcca tctgtctgcc tttctctccc
     8701 ctgcggcatc ctggcagggc agttggcaga gtgccccctc cccaggaggc tgcagatctc
     8761 tgtccctggc tcacccagat cggtctgttc tctgcagttc cattccttta gcctctttcg
     8821 caggtctgag catctctgga gcatgcaggg gaggagatat ctgaggtggg cttccgtgca
     8881 gtcagcagcc tgccccagct tcagcctcag gcgtcaggct ggtctgcact gaactctggg
     8941 tctgcctctg gggccctgac caagcacgcc tgactccagc cccatgagga gcatcctgtc
     9001 ttggttccgt agggatcatg ggtcctctta ccactgtgcg ccaagccccc agcccacctc
     9061 tgcctgggcc gacttcctgg ttgggcctcc catggtaggg gcctcagttc ccaggctctg
     9121 ggctgagccc ccagggagca ccatgggcct ctgagaccct agacctgtcc caccacccag
     9181 accagagtgc ctggacgccc cccactccca ctcaacatgg ttcccacaca ctggtctctg
     9241 ggccattcag gggatgccct ttgtggacat gcagaatttc tatgaatata gttttttgta
     9301 aacattttgt aacaatttgg gtttcatagt aactgtgtta cttgccaatc attctaggct
     9361 gatgtaaata aatttccaaa caaatctgat tattttcctt tttaagacac tgtgatatat
     9421 caaagtgcac agtttgctgt atgaagtaat atggttttaa attttaaata aaatgtttct
     9481 agaaaacagg g
//
LOCUS       NM_000834              30609 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens glutamate ionotropic receptor NMDA type subunit 2B
            (GRIN2B), transcript variant 1, mRNA.
ACCESSION   NM_000834
VERSION     NM_000834.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 30609)
  AUTHORS   Ping A, Yang M, Xu S, Li Q, Feng Y, Gao K, Wang S and Duan K.
  TITLE     Correlations between GRIN2B and GRIN3A gene polymorphisms and
            postpartum depressive symptoms in Chinese parturients undergoing
            cesarean section: A prospective cohort study
  JOURNAL   J Psychosom Res 168, 111210 (2023)
   PUBMED   36898314
  REMARK    GeneRIF: Correlations between GRIN2B and GRIN3A gene polymorphisms
            and postpartum depressive symptoms in Chinese parturients undergoing
            cesarean section: A prospective cohort study.
REFERENCE   2  (bases 1 to 30609)
  AUTHORS   Xie L, McDaniel MJ, Perszyk RE, Kim S, Cappuccio G, Shapiro KA,
            Munoz-Cabello B, Sanchez-Lara PA, Grand K, Zhang J, Nocilla KA,
            Sheikh R, Armengol L, Romano R, Pierson TM, Yuan H, Myers SJ and
            Traynelis SF.
  TITLE     Functional effects of disease-associated variants reveal that the
            S1-M1 linker of the NMDA receptor critically controls channel
            opening
  JOURNAL   Cell Mol Life Sci 80 (4), 110 (2023)
   PUBMED   37000222
  REMARK    GeneRIF: Functional effects of disease-associated variants reveal
            that the S1-M1 linker of the NMDA receptor critically controls
            channel opening. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 30609)
  AUTHORS   Iacobucci GJ and Popescu GK.
  TITLE     NMDA receptors: linking physiological output to biophysical
            operation
  JOURNAL   Nat Rev Neurosci 18 (4), 236-249 (2017)
   PUBMED   28303017
  REMARK    Review article
REFERENCE   4  (bases 1 to 30609)
  AUTHORS   Hu C, Chen W, Myers SJ, Yuan H and Traynelis SF.
  TITLE     Human GRIN2B variants in neurodevelopmental disorders
  JOURNAL   J Pharmacol Sci 132 (2), 115-121 (2016)
   PUBMED   27818011
  REMARK    GeneRIF: In this review, mutations in GRIN2B were described as
            distributed throughout the entire gene in patients with
            neuropsychiatric and developmental disorders. Review article
            Erratum:[J Pharmacol Sci. 2017 Apr;133(4):280. PMID: 28434657]
REFERENCE   5  (bases 1 to 30609)
  AUTHORS   Hess SD, Daggett LP, Crona J, Deal C, Lu CC, Urrutia A,
            Chavez-Noriega L, Ellis SB, Johnson EC and Velicelebi G.
  TITLE     Cloning and functional characterization of human heteromeric
            N-methyl-D-aspartate receptors
  JOURNAL   J Pharmacol Exp Ther 278 (2), 808-816 (1996)
   PUBMED   8768735
REFERENCE   6  (bases 1 to 30609)
  AUTHORS   Kornau HC, Schenker LT, Kennedy MB and Seeburg PH.
  TITLE     Domain interaction between NMDA receptor subunits and the
            postsynaptic density protein PSD-95
  JOURNAL   Science 269 (5231), 1737-1740 (1995)
   PUBMED   7569905
REFERENCE   7  (bases 1 to 30609)
  AUTHORS   Magnuson DS, Knudsen BE, Geiger JD, Brownstone RM and Nath A.
  TITLE     Human immunodeficiency virus type 1 tat activates
            non-N-methyl-D-aspartate excitatory amino acid receptors and causes
            neurotoxicity
  JOURNAL   Ann Neurol 37 (3), 373-380 (1995)
   PUBMED   7695237
REFERENCE   8  (bases 1 to 30609)
  AUTHORS   Mandich P, Schito AM, Bellone E, Antonacci R, Finelli P, Rocchi M
            and Ajmar F.
  TITLE     Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to
            chromosome 12p12
  JOURNAL   Genomics 22 (1), 216-218 (1994)
   PUBMED   7959773
REFERENCE   9  (bases 1 to 30609)
  AUTHORS   Platzer,K. and Lemke,J.R.
  TITLE     GRIN2B-Related Neurodevelopmental Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   29851452
REFERENCE   10  (bases 1 to 30609)
  AUTHORS   Monyer H, Sprengel R, Schoepfer R, Herb A, Higuchi M, Lomeli H,
            Burnashev N, Sakmann B and Seeburg PH.
  TITLE     Heteromeric NMDA receptors: molecular and functional distinction of
            subtypes
  JOURNAL   Science 256 (5060), 1217-1221 (1992)
   PUBMED   1350383
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: U11287.1, U90278.1 [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000609686.4/ ENSP00000477455.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007916.10, U90278.1,
            U88963.1, AC007535.3 and AC007527.6.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Jan 27, 2020 this sequence version replaced
            XM_011520628.2, NM_000834.4.
            Summary: This gene encodes a member of the N-methyl-D-aspartate
            (NMDA) receptor family within the ionotropic glutamate receptor
            superfamily. The encoded protein is a subunit of the NMDA receptor
            ion channel which acts as an agonist binding site for glutamate.
            The NMDA receptors mediate a slow calcium-permeable component of
            excitatory synaptic transmission in the central nervous system. The
            NMDA receptors are heterotetramers of seven genetically encoded,
            differentially expressed subunits including NR1 (GRIN1), NR2
            (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The
            early expression of this gene in development suggests a role in
            brain development, circuit formation, synaptic plasticity, and
            cellular migration and differentiation. Naturally occurring
            mutations within this gene are associated with neurodevelopmental
            disorders including autism spectrum disorder, attention deficit
            hyperactivity disorder, epilepsy, and schizophrenia. [provided by
            RefSeq, Aug 2017].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..30609
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.1"
     gene            1..30609
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="glutamate ionotropic receptor NMDA type subunit 2B"
                     /db_xref="GeneID:2904"
                     /db_xref="HGNC:HGNC:4586"
                     /db_xref="MIM:138252"
     misc_feature    652..654
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="upstream in-frame stop codon"
     CDS             709..5163
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="isoform a precursor is encoded by transcript variant
                     1; glutamate [NMDA] receptor subunit epsilon-2; glutamate
                     receptor subunit epsilon-2; N-methyl-D-aspartate receptor
                     subunit 3; N-methyl D-aspartate receptor subtype 2B;
                     GluN2B(alt_5'UTR); glutamate receptor ionotropic, NMDA 2B;
                     glutamate receptor, ionotropic, N-methyl D-aspartate 2B"
                     /codon_start=1
                     /product="glutamate receptor ionotropic, NMDA 2B isoform a
                     precursor"
                     /protein_id="NP_000825.2"
                     /db_xref="CCDS:CCDS8662.1"
                     /db_xref="GeneID:2904"
                     /db_xref="HGNC:HGNC:4586"
                     /db_xref="MIM:138252"
                     /translation="MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSIGIAVILVGTS
                     DEVAIKDAHEKDDFHHLSVVPRVELVAMNETDPKSIITRICDLMSDRKIQGVVFADDTD
                     QEAIAQILDFISAQTLTPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNIMEE
                     YDWYIFSIVTTYFPGYQDFVNKIRSTIENSFVGWELEEVLLLDMSLDDGDSKIQNQLKK
                     LQSPIILLYCTKEEATYIFEVANSVGLTGYGYTWIVPSLVAGDTDTVPAEFPTGLISVS
                     YDEWDYGLPARVRDGIAIITTAASDMLSEHSFIPEPKSSCYNTHEKRIYQSNMLNRYLI
                     NVTFEGRNLSFSEDGYQMHPKLVIILLNKERKWERVGKWKDKSLQMKYYVWPRMCPETE
                     EQEDDHLSIVTLEEAPFVIVESVDPLSGTCMRNTVPCQKRIVTENKTDEEPGYIKKCCK
                     GFCIDILKKISKSVKFTYDLYLVTNGKHGKKINGTWNGMIGEVVMKRAYMAVGSLTINE
                     ERSEVVDFSVPFIETGISVMVSRSNGTVSPSAFLEPFSADVWVMMFVMLLIVSAVAVFV
                     FEYFSPVGYNRCLADGREPGGPSFTIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVW
                     AFFAVIFLASYTANLAAFMIQEEYVDQVSGLSDKKFQRPNDFSPPFRFGTVPNGSTERN
                     IRNNYAEMHAYMGKFNQRGVDDALLSLKTGKLDAFIYDAAVLNYMAGRDEGCKLVTIGS
                     GKVFASTGYGIAIQKDSGWKRQVDLAILQLFGDGEMEELEALWLTGICHNEKNEVMSSQ
                     LDIDNMAGVFYMLGAAMALSLITFICEHLFYWQFRHCFMGVCSGKPGMVFSISRGIYSC
                     IHGVAIEERQSVMNSPTATMNNTHSNILRLLRTAKNMANLSGVNGSPQSALDFIRRESS
                     VYDISEHRRSFTHSDCKSYNNPPCEENLFSDYISEVERTFGNLQLKDSNVYQDHYHHHH
                     RPHSIGSASSIDGLYDCDNPPFTTQSRSISKKPLDIGLPSSKHSQLSDLYGKFSFKSDR
                     YSGHDDLIRSDVSDISTHTVTYGNIEGNAAKRRKQQYKDSLKKRPASAKSRREFDEIEL
                     AYRRRPPRSPDHKRYFRDKEGLRDFYLDQFRTKENSPHWEHVDLTDIYKERSDDFKRDS
                     VSGGGPCTNRSHIKHGTGDKHGVVSGVPAPWEKNLTNVEWEDRSGGNFCRSCPSKLHNY
                     STTVTGQNSGRQACIRCEACKKAGNLYDISEDNSLQELDQPAAPVAVTSNASTTKYPQS
                     PTNSKAQKKNRNKLRRQHSYDTFVDLQKEEAALAPRSVSLKDKGRFMDGSPYAHMFEMS
                     AGESTFANNKSSVPTAGHHHHNNPGGGYMLSKSLYPDRVTQNPFIPTFGDDQCLLHGSK
                     SYFFRQPTVAGASKARPDFRALVTNKPVVSALHGAVPARFQKDICIGNQSNPCVPNNKN
                     PRAFNGSSNGHVYEKLSSIESDV"
     sig_peptide     709..786
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3)"
     mat_peptide     787..5160
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /product="Glutamate receptor ionotropic, NMDA 2B.
                     /id=PRO_0000011577"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13224.3)"
     misc_feature    928..930
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13224.3); glycosylation site"
     misc_feature    1729..1731
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13224.3); glycosylation site"
     misc_feature    1750..1752
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13224.3); glycosylation site"
     misc_feature    2038..2040
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13224.3); glycosylation site"
     misc_feature    2179..2181
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13224.3); glycosylation site"
     misc_feature    2332..2334
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13224.3); glycosylation site"
     misc_feature    2380..2436
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13224.3);
                     transmembrane region"
     misc_feature    2518..2577
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13224.3);
                     Region: Pore-forming.
                     /evidence=ECO:0000250|UniProtKB:A7XY94"
     misc_feature    2551..2553
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Functional determinant of NMDA receptors.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (Q13224.3); other site"
     misc_feature    2599..2646
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13224.3);
                     transmembrane region"
     misc_feature    2770..2772
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13224.3); glycosylation site"
     misc_feature    3160..3219
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13224.3);
                     transmembrane region"
     misc_feature    3352..3354
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q01097; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    3364..3366
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q00960; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    3457..3459
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q01097; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    3466..3468
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q01097; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    3592..3594
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q01097; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    3823..3825
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q01097; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    3880..3882
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q01097; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    3889..3891
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q01097; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    3898..3900
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q01097; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    3928..3999
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13224.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4033..4035
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q01097; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    4105..4107
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q01097; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    4135..4137
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q01097; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    4171..4173
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q01097; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    4189..4290
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13224.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4471..4473
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q01097; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    4483..4485
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q01097; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    4519..4611
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13224.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4582..4620
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13224.3);
                     Region: Interaction with DAPK1.
                     /evidence=ECO:0000250|UniProtKB:Q01097"
     misc_feature    4615..4617
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphoserine, by DAPK1.
                     /evidence=ECO:0000250|UniProtKB:Q01097; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    5128..5130
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q01097; propagated from
                     UniProtKB/Swiss-Prot (Q13224.3); phosphorylation site"
     misc_feature    5152..5160
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13224.3);
                     Region: PDZ-binding. /evidence=ECO:0000250"
     regulatory      25702..25707
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="hexamer: AATAAA"
     polyA_site      25723
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="major polyA site"
     polyA_site      27549
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="major polyA site"
     regulatory      27553..27558
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="hexamer: ATTAAA"
     polyA_site      27578
                     /gene="GRIN2B"
                     /gene_synonym="DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B;
                     NR2B; NR3"
                     /note="major polyA site"
ORIGIN
        1 acttcctccg gcttcttcac ctctaggaaa tctcggggct tcgctctatc gagagtgctc
       61 gtcaagggtg attcttgatc accaccatcc agtagtgctg gcgtccgaat gcatatcctt
      121 ttgccttgca aagaagagtc atgaacttca aaacccccga gacggatcat taatcctgct
      181 ttgcaggaaa ggaaaaccct ccattcccag ccaccggcca cccctctccg cagactgcaa
      241 ccgcggaggc gctcggagcc ggaaggggac gctttgggaa tgaccatgct ccaccgaggg
      301 acggagccgg cccccagctt ctccacacag agcctcctcc actaacgctc caaaaaccaa
      361 aaaccgtaat tgccagaaga agcgttaaaa atctattcca gccactaacc tcacatgcac
      421 acggaataat tactctggat tctgcattgt gagctgctct ccataccctg aattaccttt
      481 gaattaaatc tttttttttt tgaatttgca tctcttcaag acacaagatt aaaacaaaat
      541 ttacgctaaa ttggatttta aattatcttc cgttcattta tccttcgtct ttcttatgtg
      601 gatatgcaag cgagaagaag ggactggaca ttcccaacat gctcactccc ttaatctgtc
      661 cgtctagagg tttggcttct acaaaccaag ggagtcgacg agttgaagat gaagcccaga
      721 gcggagtgct gttctcccaa gttctggttg gtgttggccg tcctggccgt gtcaggcagc
      781 agagctcgtt ctcagaagag cccccccagc attggcattg ctgtcatcct cgtgggcact
      841 tccgacgagg tggccatcaa ggatgcccac gagaaagatg atttccacca tctctccgtg
      901 gtaccccggg tggaactggt agccatgaat gagaccgacc caaagagcat catcacccgc
      961 atctgtgatc tcatgtctga ccggaagatc cagggggtgg tgtttgctga tgacacagac
     1021 caggaagcca tcgcccagat cctcgatttc atttcagcac agactctcac ccccatcctg
     1081 ggcatccacg ggggctcctc tatgataatg gcagataagg atgaatcctc catgttcttc
     1141 cagtttggcc catcaattga acagcaagct tccgtaatgc tcaacatcat ggaagaatat
     1201 gactggtaca tcttttctat cgtcaccacc tatttccctg gctaccagga ctttgtaaac
     1261 aagatccgca gcaccattga gaatagcttt gtgggctggg agctagagga ggtcctccta
     1321 ctggacatgt ccctggacga tggagattct aagatccaga atcagctcaa gaaacttcaa
     1381 agccccatca ttcttcttta ctgtaccaag gaagaagcca cctacatctt tgaagtggcc
     1441 aactcagtag ggctgactgg ctatggctac acgtggatcg tgcccagtct ggtggcaggg
     1501 gatacagaca cagtgcctgc ggagttcccc actgggctca tctctgtatc atatgatgaa
     1561 tgggactatg gcctccccgc cagagtgaga gatggaattg ccataatcac cactgctgct
     1621 tctgacatgc tgtctgagca cagcttcatc cctgagccca aaagcagttg ttacaacacc
     1681 cacgagaaga gaatctacca gtccaatatg ctaaataggt atctgatcaa tgtcactttt
     1741 gaggggagga atttgtcctt cagtgaagat ggctaccaga tgcacccgaa actggtgata
     1801 attcttctga acaaggagag gaagtgggaa agggtgggga agtggaaaga caagtccctg
     1861 cagatgaagt actatgtgtg gccccgaatg tgtccagaga ctgaagagca ggaggatgac
     1921 catctgagca ttgtgaccct ggaggaggca ccatttgtca ttgtggaaag tgtggaccct
     1981 ctgagtggaa cctgcatgag gaacacagtc ccctgccaaa aacgcatagt cactgagaat
     2041 aaaacagacg aggagccggg ttacatcaaa aaatgctgca aggggttctg tattgacatc
     2101 cttaagaaaa tttctaaatc tgtgaagttc acctatgacc tttacctggt taccaatggc
     2161 aagcatggga agaaaatcaa tggaacctgg aatggtatga ttggagaggt ggtcatgaag
     2221 agggcctaca tggcagtggg ctcactcacc atcaatgagg aacgatcgga ggtggtcgac
     2281 ttctctgtgc ccttcataga gacaggcatc agtgtcatgg tgtcacgcag caatgggact
     2341 gtctcacctt ctgccttctt agagccattc agcgctgacg tatgggtgat gatgtttgtg
     2401 atgctgctca tcgtctcagc cgtggctgtc tttgtctttg agtacttcag ccctgtgggt
     2461 tataacaggt gcctcgctga tggcagagag cctggtggac cctctttcac catcggcaaa
     2521 gctatttggt tgctctgggg tctggtgttt aacaactccg tacctgtgca gaacccaaag
     2581 gggaccacct ccaagatcat ggtgtcagtg tgggccttct ttgctgtcat cttcctggcc
     2641 agctacactg ccaacttagc tgccttcatg atccaagagg aatatgtgga ccaggtttct
     2701 ggcctgagcg acaaaaagtt ccagagacct aatgacttct cacccccttt ccgctttggg
     2761 accgtgccca acggcagcac agagagaaat attcgcaata actatgcaga aatgcatgcc
     2821 tacatgggaa agttcaacca gaggggtgta gatgatgcat tgctctccct gaaaacaggg
     2881 aaactggatg ccttcatcta tgatgcagca gtgctgaact atatggcagg cagagatgaa
     2941 ggctgcaagc tggtgaccat tggcagtggg aaggtctttg cttccactgg ctatggcatt
     3001 gccatccaaa aagattctgg gtggaagcgc caggtggacc ttgctatcct gcagctcttt
     3061 ggagatgggg agatggaaga actggaagct ctctggctca ctggcatttg tcacaatgag
     3121 aagaatgagg tcatgagcag ccagctggac attgacaaca tggcaggggt cttctacatg
     3181 ttgggggcgg ccatggctct cagcctcatc accttcatct gcgaacacct tttctattgg
     3241 cagttccgac attgctttat gggtgtctgt tctggcaagc ctggcatggt cttctccatc
     3301 agcagaggta tctacagctg catccatggg gtggcgatcg aggagcgcca gtctgtaatg
     3361 aactccccca ccgcaaccat gaacaacaca cactccaaca tcctgcgcct gctgcgcacg
     3421 gccaagaaca tggctaacct gtctggtgtg aatggctcac cgcagagcgc cctggacttc
     3481 atccgacggg agtcatccgt ctatgacatc tcagagcacc gccgcagctt cacgcattct
     3541 gactgcaaat cctacaacaa cccgccctgt gaggagaacc tcttcagtga ctacatcagt
     3601 gaggtagaga gaacgttcgg gaacctgcag ctgaaggaca gcaacgtgta ccaagatcac
     3661 taccaccatc accaccggcc ccatagtatt ggcagtgcca gctccatcga tgggctctac
     3721 gactgtgaca acccaccctt caccacccag tccaggtcca tcagcaagaa gcccctggac
     3781 atcggcctcc cctcctccaa gcacagccag ctcagtgacc tgtacggcaa attctccttc
     3841 aagagcgacc gctacagtgg ccacgacgac ttgatccgct ccgatgtctc tgacatctca
     3901 acccacaccg tcacctatgg gaacatcgag ggcaatgccg ccaagaggcg taagcagcaa
     3961 tataaggaca gcctgaagaa gcggcctgcc tcggccaagt cccgcaggga gtttgacgag
     4021 atcgagctgg cctaccgtcg ccgaccgccc cgctcccctg accacaagcg ctacttcagg
     4081 gacaaggaag ggctacggga cttctacctg gaccagttcc gaacaaagga gaactcaccc
     4141 cactgggagc acgtagacct gaccgacatc tacaaggagc ggagtgatga ctttaagcgc
     4201 gactccgtca gcggaggagg gccctgtacc aacaggtctc acatcaagca cgggacgggc
     4261 gacaaacacg gcgtggtcag cggggtacct gcaccttggg agaagaacct gaccaacgtg
     4321 gagtgggagg accggtccgg gggcaacttc tgccgcagct gtccctccaa gctgcacaac
     4381 tactccacga cggtgacggg tcagaactcg ggcaggcagg cgtgcatccg gtgtgaggct
     4441 tgcaagaaag caggcaacct gtatgacatc agtgaggaca actccctgca ggaactggac
     4501 cagccggctg ccccagtggc ggtgacgtca aacgcctcca ccactaagta ccctcagagc
     4561 ccgactaatt ccaaggccca gaagaagaac cggaacaaac tgcgccggca gcactcctac
     4621 gacaccttcg tggacctgca gaaggaagaa gccgccctgg ccccgcgcag cgtaagcctg
     4681 aaagacaagg gccgattcat ggatgggagc ccctacgccc acatgtttga gatgtcagct
     4741 ggcgagagca cctttgccaa caacaagtcc tcagtgccca ctgccggaca tcaccaccac
     4801 aacaaccccg gcggcgggta catgctcagc aagtcgctct accctgaccg ggtcacgcaa
     4861 aaccctttca tccccacttt tggggacgac cagtgcttgc tccatggcag caaatcctac
     4921 ttcttcaggc agcccacggt ggcgggggcg tcgaaagcca ggccggactt ccgggccctt
     4981 gtcaccaaca agccggtggt ctcggccctt catggggccg tgccagcccg tttccagaag
     5041 gacatctgta tagggaacca gtccaacccc tgtgtgccta acaacaaaaa ccccagggct
     5101 ttcaatggct ccagcaatgg gcatgtttat gagaaacttt ctagtattga gtctgatgtc
     5161 tgagtgaggg aacagagagg ttaaggtggg tacgggaggg taaggctgtg ggtcgcgtga
     5221 tgcgcatgtc acggagggtg acgggggtga acttggttcc catttgctcc tttcttgttt
     5281 taatttattt atgggatcct ggagttctgg ttcctactgg gggcaaccct ggtgaccagc
     5341 accatctctc ctccttttca cagttctctc cttcttcccc ccgctgtcag ccattcctgt
     5401 tcccatgaga tgatgccatg ggccctctca gcaggggagg gtagagcgga gaaaggaagg
     5461 gctgcatgcg ggcttcctcc tggtgtggaa gagctccttg atatcctctt tgagtgaagc
     5521 tgggagaacc aaaaagaggc tatgtgagca caaaggtagc ttttcccaaa ctgatctttt
     5581 catttaggtg aggaagcaaa agcatctatg tgagaccatt tagcacactg cttgtgaaag
     5641 gaaagaggct ctggctaaat tcatgctgct tagatgacat ctgtctagga atcatgtgcc
     5701 aagcagaggt tgggaggcca tttgtgttta tatataagcc aaaaaatgct tgcttcaacc
     5761 ccatgagact cgatagtggt ggtgaacaga acaaaaggtc attggtggca gagtggattc
     5821 ttgaacaaac tggaaagtac gttatgatag tgtcccacgg tgccttgggg acaagagcag
     5881 gtggattgtg cgtgcatgtg tgttcatgca cacttgcacc catgtgtagt caggtgcctc
     5941 aagagaaggc aaccttgact ctttctattg tttctttcaa tatccccaag cagtgtgatt
     6001 gtttggctta tatacagaca gagatggcca tgtattacct gaattttggc tgtgtctccc
     6061 ttcatccttc tggaataagg agaatgaaaa ttcttgataa agaagattct gtggtctaaa
     6121 caaaaaaagg cggtgagcaa tcctgcaaga acaaggtaca taaacaagtc ctcagtggtt
     6181 ggcaattgtt tcaaccagtt tgaaccaaga actttccagg aaggctaaag ggaaaccgaa
     6241 ttttcacagc catgattctt ttgcccacac ttgggagcaa aagattctac aaagctcttt
     6301 tgagcattta gactctcgac tggccaaggt ttggggaaga acgaagccac ctttgaagaa
     6361 gtaaggagtc gtgtatggta gggtaagtga gagaggggga tgtttccaat gctttgatcc
     6421 cttcttactt aacctgaagc tagacgagca ggcttcttcc ccccaaaact gattacaact
     6481 gctacagagc agacagttaa gagaaatgag cttgaccttt aagagaaatg agctgcactc
     6541 catgagtgca gctctggagg tacgaaaaga ggggaagaga cttggaaatg ggagacgggg
     6601 gcagagaggg accctccacc acctctttgg gcctggctcc ctgggaatgt gacttgagcc
     6661 cagagtgaac actcttggta gaagcccttc taccttcctg caacaccttg tttccctctc
     6721 agattgtacc attgaggaat aaaaaaagat atacatgtat aaaactccag ggatgagggt
     6781 accagcagaa ctgatgctcc cttcacttaa cattggaaaa ttgagaaggg aaatgaatat
     6841 gtatcactgc cggtcctgaa acttgcggta gggctattta ttctatgggt cagttccact
     6901 gtcctgccat cctcccctac acagggtggc atccagagag ccccaggtct gtgtggaagc
     6961 ttgactgcag gatcgccatg ttgcacacag gacacataaa ccagaaaggt gctcatcctc
     7021 ctctggaagg aagctgccat gtctcttcaa gtcactccct ccagggctgc tcttcgcccc
     7081 tgtttgccct cactcgtgac ccttcctcat cccgcccttg actgctgtcc ccaaccctcc
     7141 tccttgattt ttacctcagt atctttcatt ttaaagccaa ctgaaggcct tgtaaagctt
     7201 tgttttcttt ctaaaatgaa catgggggca aggggctgaa cctctcacag atttggtgag
     7261 aggagcacgg agtgctttac cttagataac agaaaagact gagagaggac agagggcatg
     7321 aggcacctcc aggaggaaga aggcgaaggg ccacgtaaac actgcttcgc cctgactctg
     7381 tccaggggtc agggactcat cccctcatct tcctcttacc tcaccccttt caaacaaaaa
     7441 aaccaaacca actaacctag cgaacagcaa tctagaacca agggagctct ttcagtctcc
     7501 gctggcaaca gaaatcaaga tggtgtttat ttcatatgta aatattttgt tttctaattt
     7561 tgtatagata aagtgttctc ttgtgagtat tcagggtgtt gggctggagg gagtggggtg
     7621 gtgatgggaa tgagagggaa aaagtgtttt gttatgggtt ttcatttccc attgggggaa
     7681 ttgttttgta tggctttttt gcttcagggt gtctggaaaa agcgaatgct catggaggcc
     7741 actatggtga aaaagccagg ggaaagtaat tgtgtccatc ccccccagaa aaccagtctt
     7801 cttactggtt tgtgagaaat gttcatgcac tttggccagg gttttacata gggttcaatt
     7861 tggctctaag caaaccccag gtctgactcc tatcttctag gtagacccta ggttaccaca
     7921 ttccacacaa agacaggctg gtggcaccat atttcctctg tcagtaccta gggtaggaaa
     7981 gattcccaaa agggcttaaa cagaattaag gtcaaattaa cttcccattc ttggcgtgac
     8041 tgaaaggttt caggaagctc aatcctgaga aatctcccag cggcctcctc tgatgctgaa
     8101 acaatcgtct cagtcatctg agtcttttct tctttaggac ctgggcgctg actcactccc
     8161 tgccccatct ccaccctcag aagtcagcct ggcaaacaca cgtggaaaaa tctccactaa
     8221 ctctactttt tgaagcatgt gatatctggt cacagagagg tagtgctgga tatgtgtctt
     8281 acaaatttgc atgcttttct agaaaagatg atgggatcca ctagaaactc agtggtgaga
     8341 tgattccctt agcaagattg ctgaagttag gtttagacgt gggagggtgg gtatgtgagc
     8401 aatggtgcca atagcggctc tttatttgcc ttgtcctcat tactgccatc aggaaggtgc
     8461 tactggcctc gagccaggtg ttcataatct ggccttgggt taaccagaca aatagaactt
     8521 cttttcctag actgttggct ttgtggaggt tggcagcctc tatcacagga taaaatttcc
     8581 aaatccattt acccagtata ttcactacat tttttcctat cctcccatca taaaagctgt
     8641 tagctggaca attttatttt tctaaactta tttggcccca gttggttgct tttcttcaac
     8701 tggatatttg cactgggact aagttactca tggtctgctt aagaaaactt aaagaaagga
     8761 aggctgggca ttgttaaaat ctagatgtta cttaattcca gaataacaag caagtaaaat
     8821 gcatgaggaa gaattcagct ataagcccaa tctatatcac agatgggtat gaaacaacac
     8881 ccaatccatc caaaactgtg agattccgca gataccctca ggagcaccta atattcccat
     8941 gttcttcaga atccatgctt tctcgctttg taccctctat cattcccttc cattgcagaa
     9001 gtggttggtg agtgtggtcc tgtatgaact cctttcagtg gcaatgctta aatctcagca
     9061 tttccactga caataatctg acccttgaat ttgcctgagt cgagactttg cacacccttc
     9121 aaagtgatgc atgtacagtg gactttgtta tttcaaaatc tgtcactgtg tatcctcagc
     9181 cagaacttgg gaaacatcct tcatatgtat ttccctgcac tggccacagc catgttgtga
     9241 ttgaggggaa aatcccaaat gattccatta aatgttgctg gtgtcagtag tgccaaaaac
     9301 gcatgtatga catgatacag taggagttgt ctatacagtt aagtgactat cactcacccg
     9361 gtcttccgtg gccatcagga gttgcccaag ggagaattct ctgcagagtg ctggtcacct
     9421 gcacatgtca ctaagaacta ggtttctttg gttcattttt tttttttttt tggtcggttt
     9481 ttagttagtt agttcaagat ttacagatag aataaccaga ttgtttgggc aataagcttt
     9541 tggaaaaact attccagaac tcactttatt ctttcaatca tcatctctct aaaaaggccc
     9601 tgtcattgct tgacaccctg tgaatgtctg tttttgtatg ttaggaatga ttcagatgtg
     9661 tgcataaatg atgtcactgc agtgatattg atgaatgcat tcagcatttc cagggactgt
     9721 ggccatacct tatgtgctct ctgagcccaa agccatatag gaaatacatg ctcagtaggc
     9781 tgctacacac tacagcagag cttttgcttt cttcacttgg gtgtcagaga cttttcctcc
     9841 tgtttaagga gctcttcatg gaggagaagc agctgaaagt gaatagtcac actgggatgg
     9901 gtctggcctt atgtatgcta tgtggtccat ggtgtgttga aggtcctgaa aaggtctttt
     9961 tcatttccca ccccactgca actaccacct tcccacacag atttgttgct ttagcactga
    10021 gctgagctgt ctgtcattcg aatgaaagta atcccaggaa aggtgacata ttaagccata
    10081 ttagggatgt atacatttaa tcacctaatt tacattagga atctcactcc ttttcctggg
    10141 aataagttat gatacaagag aagaggaagg gagcagagag cactgagagc aatagagtag
    10201 ggaacaagga tacaggttct agatggcaaa gacatttaaa ccatattttg gcctccgcct
    10261 gcttttattt aagcctcatt tgacacctaa ataggactcc tggttaggaa ttattttcaa
    10321 tacacaatca tatgagtgta taatttatga atttctaaat tcagtatctt gtagggcagg
    10381 ttgagaacta tgattctttc catagaaaat agaagagtga tgcttctcct ccattacatg
    10441 ttactgagta ggcagctaga aaaatcaaat tgaattagtg atacaataaa atttactgtc
    10501 attgtctggt ttctgtccca gtttaattaa tcttccaatt agctgagttg gtctatatcc
    10561 tatactttcc acctccatag ggggtgccct gttatctggt aaaagagcca cttatgacct
    10621 caggtgctac ttaacctggg gggcaattgt ttcttaggcc tagcagatgt ttgggatgac
    10681 actaaaatgg cagattagtc agtctgagaa tgtctaatat tgatctgaat ctaggattct
    10741 attctagttt ggggggtggg gttgcagtat tgtataaaat cataggatat ctgagaacat
    10801 cccaccctca actcattcca accacattga ttcagtcaca cagtggccct gtgagctcta
    10861 tgacttagaa gagatagcct atctattcct atgacaaagg ccctcaccca aaaccttaaa
    10921 ttgaaagcca gtgctgctac tttcatgcct tggagagaac tgtgacgttt agggcttctc
    10981 atttacaata ttgaagcaag aaaaaagaat tttgttcaga gtaatgggtt agaatagcag
    11041 tactgggaat aagtagggaa agttagaaat cttccacatt tctctctaca tctctcaaga
    11101 gctctgtaca gtgagtttct ggagctgctt catgctttga atataattgc tggggtgatt
    11161 atgtggttaa gggctcctga aagaactgaa ggtgaaaagc agagtagatg agtagaattc
    11221 ctcagagcct tggcactctg gtgtgtagaa tctgtgtttt ggagaaggtg aaagaactca
    11281 gtgcaagaat taaggtacaa ttaaaaagca caacactaag cccaatttaa actgttattt
    11341 taaagattag gtttccacac tttaaacctg aactctttta tcggtaatta ttttaatgtt
    11401 gtgatttagg aggtggagca gattctagta ctatgcagga gaaaaaaata aaagctctct
    11461 ggttaaatat gtgagtttaa ttaaaccaac gtctattgtg cacgtactat gtccctaggc
    11521 tagttctgtg aatgatataa aaggtttcaa aatggagtat attgtactca cgtagaatat
    11581 atgaaagcat aagtataaaa tatgtaaatg tatgtataaa taggtatgca tacatttgta
    11641 tgattataca tgcaagttta atattttctg gtttcagggt aggagtcaaa gatatccatt
    11701 atgctatttg aaaaaacatt gcagagattc agcttcccat gtcatggcca ggcctggact
    11761 tattcttttg aaattattac acctcccaga gctaaaactc tgggatttcc tctctaacca
    11821 caaccttgcc ttttctatat cttccttcct tcaagacccc tctgttgttc tggtccataa
    11881 atccatcagg cctcattgaa ttccctcttt ggtctaaccc tgtatttacc cacattagca
    11941 atattctcac cggcaattcc tttttcctct tgccatctca ctacaccaac catgcttagc
    12001 taactgcatc ccatcccctt gtcattcatt gcatccccaa gaagagcaag tcttaaacct
    12061 acgtgaagag cacaaattca atcaatttaa cctcacctga agcctactca cttggacttt
    12121 ttaatttctc caatgttgac tcagtgtcac attctgtgct tgataaattt gttttatttt
    12181 cctttcatgt tcatgtcctg tctttcaaca ggcaatcttt cctactgtgt ttgcaagaaa
    12241 atctgattat tgaatcctca catatgctgt cctctctgcc tttagatttc tcttgtcttt
    12301 cacacatctt ttccatcctt tctcccaacc aagtgctcct cttccctatg ctctgacctc
    12361 ttctgaggtg ctctccagcc aattgtattt ctctcttttg catctttaat tccttccaca
    12421 catctacctg caactatctc aaaaacaccc gtcctacaac tatctctaaa gacaaatctc
    12481 tcaatccaat ttgactcttg aatttctgtc ctatcgctat cttttcactt cccaacttct
    12541 caaaagggta gtctttcttt ctccacttcc tcaccttatg ctcatggctt catcaatggg
    12601 ctacacccta ccactcttct gaaactactc tcaggcaacg ttccaatgaa gttcttgtta
    12661 caaaagtcaa tagccttttt tctttactta ccctgctctt caacctcatt gacaattacc
    12721 attgggaggc aatacattct ggttttaatc ttagttctct ggtcctctaa cctcattggt
    12781 tcctgctctt cctcttatct ccttagcatt gacttgccat ggtatatctg agcttgaccc
    12841 tcttctcctt atcttaatgc ttctgtagca atctttctgt cttctatgat ttcaataact
    12901 ctttgaatga agatgaatcc caaatcttca cttttagccc ctaccttttg cttttccttc
    12961 atacacatac ttccagtcac cttctgaaca ctcaacttca tcttgactca aatatccaaa
    13021 accattgctg caaaccaaca taatcaccaa cttcctcctt ttgcttaatg gtatcaccat
    13081 gtcttccgtc accgaactca agcttttcag gcacttttgc ctcctccatt ttcttcatcc
    13141 tgcatatcta aaaatttgaa aagcctacta attcttcccc ctaaggtttc cagtctttcc
    13201 ttttcattca gacccttcct tctagtctgg attatttcag cgtcttttag cattgttcca
    13261 atattttata tttgaatcta ctcttgtcag tactcacttc ctacatataa atcagatgtc
    13321 attcttcaga tcaagaaaca accttcagtg ggcttcactt gccgtagtct gccagcaata
    13381 atttcttgtt acttgactat gtgtgtgtcc cataatccag acaagctgaa taacatttgt
    13441 ttcacctttc cctaccagct tgttttccca cttgcgtctt cccttaaact gttccctttg
    13501 tccaaaatac tctccttcct atctcccatc tcactccctt cttgaataat atccattccc
    13561 tctatataag tcttcaaaga ccagaacaac ttctttatct tccattcaga aaataatttt
    13621 aggcatttta tgaatgccca taacactttc gttgtttctc cctagtggca gctatcatgg
    13681 gccatcttat ttcataggta tttggttata catctcatct ctcctgctac agcataagct
    13741 ccctgtgttc agggccatgt atttttaaat ctttttatct cctgtagcac taaacagagt
    13801 gccttgtata tgaaaggcat tagtaaatat ttgatattat tataaattat aattgagaag
    13861 gagtcacttt attttgccca tttgtatctg cagtagcacc taaggatgaa tccccccagt
    13921 ttctctatat atatctgcac acacaatcac atgtatatac tacatgtata cagttcatta
    13981 tttcaaatgg aatctggatt tttctaagtg ctttgtcctt tttctaagtg ctttgtcctt
    14041 tgaagttgtt ttggactgtt ttatggttag gaaagtgtac ttggaacact acatgtgttc
    14101 aagtaagtga cagagggaga aactatgaag gatattgatc aaattttagg tatcagcttt
    14161 tcagatgctt tgggtagagc ttgtatccag acactttact accaagattg agtctctaat
    14221 aacctgatcc atgctgggac tgatctgtga tccaatattt agcttctttt ttaacacttt
    14281 cagcaccaaa agaaccttgt cacagttctg gctcactaat cacacagcct tgtagacccc
    14341 aggtggtggt ccaacaggac cactgtattt caccacacgc tacttccaca tttgtggcct
    14401 tgggggaact gtctgtgctg gtcaccacct tgtctttata tttctttcct gagttctttg
    14461 gcttctcacc ctttctgagg ctttgtctac aggatcactt ctcccaaagg gaggataaga
    14521 gttgaggtaa ttgagcactt tacctcttat ctgtatattt acaatgaaag taagttagga
    14581 tttgaatgag ctggctcaga gagaatgcta gtctctaaac tactcctttc tctgtaaata
    14641 taaagggatt cattacctca gggggagaca acatcacttc tgaccttatg gccctccctt
    14701 atcctctggt ccctgtattc ttgaagccct gttaaccctt cctcctcctc tcttggctct
    14761 acttagcaat ctatcaatca ttctttctag ccagtgtcag tctctgtccc tctgaagaaa
    14821 ctcttggagc tcgtactgtc ctttcacttc agctgctctg gtaaccgata atgttttcgt
    14881 tccttctccc ggccagcctt ctctgtaaat ctcattatgc cattggctat gaattattcc
    14941 cctttgggag gcatcttctg ccactgtgtg ctaatttaaa gcatactata gagaactgaa
    15001 ctcaaataag ttacaggcag tgacaagtct ctttttttaa aaaaaaagtg aagaaagtcc
    15061 actcttcatt gagacaggag tgggtaggac aattattatt ggcaaggtag ggcaaaactt
    15121 gtgacaactt gggagatacc tagtgaaaat taaaatataa gtctagagag ataattttgc
    15181 ttttcaaaag tcctatgggg tctagatagc cttgctcctg aaaatgagaa tagttaatat
    15241 tttagagcaa aacccatttc attatactat gagacttttt tttttagctg atgaaacaaa
    15301 ttatctggta aacagctggt gggagggtag gaagacagcc atcctcatga aggacgttca
    15361 tgaatctcat ttgggccaat aaatggacca aaattctagg cattttagcc atgaactgtt
    15421 catgtcaatt attttgccta caaataccca taaaaggaaa gggaggatat gaggaaggaa
    15481 aagaacagga agtctacact ggagcttcct tttgtgtcac caataaagcc agaagctgac
    15541 atgtgaggca catggttccc ccttggttac tggcttcaat gatagcttcg gaaagtaggg
    15601 aaacttgaaa gagcaaggac caaagcggag atgagtgagg aacctgaatg caaccttatg
    15661 tgtgaggtcc tgatatccac aaggaacctg gccccatgtc attcctgccc aggtccttca
    15721 gattacagca cccaaggagc ccttgatcat caccctgggc agagggagtg acttatcaca
    15781 ccacccttac ccacagaatt taggccacca ggctgtgact ccatctgtcc cccttgcagt
    15841 aagagattca tagtctctga aatctgacag gagaacagca tcaggggaag gggccacagg
    15901 aatgcgaatt tgttgagctg cctgctcctc taggataagt atattacctg tttccagagg
    15961 ggattgtttt tttttcgaaa tgaaacaaaa catgcctgcc taaaacttca gccctattca
    16021 gaacagtctt gcagttaact gtcattgtca cattttaatt gtaattgatt ttcttttgaa
    16081 atccatggct attttaatgc tccctttgac catgacataa gaaccctctg caaaccagag
    16141 acctggccat taggttgcct ctggctgagt tatactctca gtagtttata ctttgctctc
    16201 agatattcac ctgaacagca caactacaca gaatttgatc tctttgccat gagcattctg
    16261 atgcctatgt acctccctaa tgcacacaca caatcttaac aaatagatcc aaatttccta
    16321 tgtcaatcat gttatggtag atgaaagtgt tcatttagaa tgggataaag agacatatca
    16381 taatttatgc agccagtgtt ttctctttgc tctacctggc ttgtggatca ttgatccctc
    16441 aaggtttgac agaaatattc aggcttcatg tgaaggcagc atgttctttg tgatgaaaca
    16501 acctagttat cgtctccatt ttcccatttt accctatgga atccatgtgg ccttctaagg
    16561 tcctgttgat ggactggtac taagaggatg gagaagcaga agccagtccc cctgagaaca
    16621 gacagtcctg ttgcttagat acatacatat tcgcacatgt gcccacatct cttcttggaa
    16681 acatcatgag cagaggtgga gaggtctgtt ctcaatggga ggaataaggg taggagaatt
    16741 ccttgagaat ccctattctc aaggaatagg gataaatgcc ttcacggatt caataattta
    16801 tctgttctct ctctcccagg gtcaggagca agaaaaatat caaggtttca cataggcagg
    16861 aagcaaggag gatagtgaag catctaggtg gaggtggaac tcttactgag aaaaacatga
    16921 agtagtaaaa tcaccctttc tttgatataa atgcatttag aagtcaatga gggcacttac
    16981 agctgtgttt cccttcacta acttttcatc tcttgcattc tttacttctc tttctcaatt
    17041 tattcatctt gaggtatact tatcctgagt tgactctgag cagcccatcc tcaaaacaca
    17101 aacaatgtta ggatgagaag ttgagtgagc acagagctcg aacacgtgca tggtacttaa
    17161 tgtttccaaa ctcgagccca atcagtctag cacagtcaat cccactgcat tttaatgact
    17221 aggatggggc ctgctgtaca tagctggaca tcttggatta cagaaaagag gctttatgtg
    17281 aaggcagcat tttctttgtg gtagagcaac atagttatcc tgctaactgt cctatttgac
    17341 ctgatggaat ccataaggtc ctgttgatgg gttggttcta agaggatgga gaagcagaag
    17401 tcattctact gagaacagac agtcctgttg cttagataca tacatattct ttatgacaga
    17461 attcctcctg agactcttgc acaccttcag tgatcagcgc attcactttg gttatttctt
    17521 ggtaacaggc acgagaaatg ggtcacatag aaatctgaag agtcatttct cgagcatttt
    17581 tagcttattc ccatgtaaag aggcactgag ctcctgcagt tctagcctgc ctctgctccc
    17641 ctccttgggg aatggtggag tttctaggat aaccagcaac ccattaggct ccaccacact
    17701 tagcctatgg tacattctga gtaaatcaca gtagttggta tgtgaataca gaagaattta
    17761 ccataaccac ttctccaaat aacctccttt gacttggaaa taagatcatc tttcagtttt
    17821 acagatgaga agtcaaagca caaaattgga taattagcca aaagtaagat tatacagaaa
    17881 attcttgaca gaaccaaaac ttggctgaac caaaacttgt ccaaatttct aactctcagt
    17941 ctagctcagc gagtaatgct gcctgaattg tctgccccca ctgtaggttt tcagcatcta
    18001 gcagtggaga aaagtcacga aatctaggca gctgatttag ccagatctta tctatgaaat
    18061 ttccctttgt agacacacac acactccaca tacatctaca gagacaagtc aaaaagagca
    18121 agaagaaagc aaaaatttga aaatcagaaa ggttagagag gtttccacgg tgaagaaaac
    18181 ttggtcaaat aaaaatgttt ttgaattcta tagggtaaga tattgtgaat aattttttat
    18241 tattaaaaat tttttttagg tagcatgtaa tccacataaa taaaaaactc aagaataaac
    18301 tgggacagag gatttcttcc agagtgctac atggcaaaag agccttcagg aacgtgtgca
    18361 ggggtgtcat gatactccga aggtgtcagt agttttggtc agcccacagt gagcagggca
    18421 gcctcaaggg agagcccctt acatcctttt ctgggcacct ctgtctaatt aagttcaaac
    18481 atacaagcct gattctagga ttaaggcata agttagttct gaacagaaaa atataaggca
    18541 gttcacatac acaatgaatt cttgaagaaa gaacctatag cccccagacc gataataaat
    18601 aattactgcc tgccaaaatc ctgaagaaag ggaagcatgg gggctccaaa attaatagtc
    18661 tcctgagaat acttatgaga ccttgatttt gtcacaaggt tgcaatggtg aattatttat
    18721 taagcacccg cagatcagag aatcttgcaa caaccttctc ttacaaccca cctgttcact
    18781 tatgaatgat atcaagctca ggatataatc catctttcca aagattttag tatctttagt
    18841 ttgggctgca gaagaaattt tggctcacag cattatgctt aaaccaaaaa cagtgaaaga
    18901 gctctagtgt cctgcttaat gtagagtaac tttttttttt tatcagtcct tcctagccct
    18961 agagggaaga taggagagga ggtaggaaga tggaaaagtc cttagatgaa tgagtgagga
    19021 gacttctata ccatcaactt cagagtgtac tgatccccgg agcctggttc aggaggctag
    19081 tttcagatga tcggaggaaa tggaggaggt agcttttatt cccatgcatg aagatggggg
    19141 gaggaggtgg gcactagact aattttttaa tctaaaaaaa atcaagccta ttacaaatct
    19201 catttttccc ttgtcctttt gcctcccaat aattcacata aaatcgtgtt atcatagtaa
    19261 gctaagagag aggggcagta gctatttcta ccttgactcc gtggtgactt catctttttc
    19321 atgagtgtca ttacagatac ctggatcatg atgatcctga aaaacaggtc acagggccaa
    19381 cagctgatga gtatttggag catcttattc ccccaagatg accactccct gtcttctgct
    19441 acacctatat tcatcggggg ggggaggtgg gaaaatagca ggattcttgg ggactctgag
    19501 ggcatgaatg gagaattatt tgattgaaac cacagagctc ttgtacttag tattaaatat
    19561 taaaatagaa atgaaaagtt cagcttttct gagctgtacc atagcggcca atggaggaag
    19621 tcttacaaag aaaatctata tctgcacaag actgaagcca ctaaaccgag tatacacaac
    19681 ataaagatat cttcctattt caagtatccc ttagggggca tgggtgctta gctatcctat
    19741 gaaagacaga gaagataagc tcaattttag agcccagagc ttgctccgga acagcaagat
    19801 ccacatgaac ttaaactctt tcccactgag cctaggggtg gaatgtaatt cctctgatgg
    19861 ttttgattta tttccaagct agacttctct atttgatcat tggcaccttg gcagctcaca
    19921 catctccgtg gtctcttctg tagctttcag aaaaaaaaaa aaaatatata tatatatata
    19981 tatatacaca cacatacata catacataca tatacataac cctgtttggg taaggcctat
    20041 tgacagaagc cagatatctg ggtggaagtt agaagatggg caaggaattc ttatctcaga
    20101 gtttcaacac tgcgacaatg tggagagaag tctcctggga aaatgcagat gcccaataac
    20161 ttccaaaaga atcagggaag ttggagtatt tttgagattt acagtgtctt tacttcagta
    20221 aaacaagcca tagcaacatt atgctctgca gagtcttctg ttcacctttg gatggaaaag
    20281 agctgcttct cctagggaga caactaagac caagaacaaa actcccatct cctaggccaa
    20341 ttattgtttt ctcctttcct ttctttttta ttctctttgt tacataatgg tgaaatctac
    20401 ctggccattg ccagtcaaac attctaattg ctaaatatca tacagaaatt catgaaaaaa
    20461 gagtagaatc agcagatttc atttaatccc aagggtcttt gcagttttca tcctctccct
    20521 caaagttatc tcttctttga gacacatgat cacccctttc ctcttctggg tggccatgat
    20581 tccaaaatga acttcagtgg ttggtgcttc acaaaaggaa agacagctat aatataaaat
    20641 agaccaaaat acttatattt ttagccactg caaagtgggt tttatcgttg agaacaacct
    20701 tccaagctcc ttacttggaa acccttcctc acctcccagc ctcctggcag ctctcctggt
    20761 tccccttcat gtttttggct cccctccccg actttccttt cctatgaaaa tgggatatat
    20821 cccttaaact gtattcttat ctaaactatc agactgttaa aagaaaccct tgacagtaat
    20881 ttttcatggt tttctcatca ttttttaact taggaagttg gagaaagaat gacaagcagg
    20941 caaatgaggt cttgttcctg agtgcttcaa ctcaagatca agtgctggga tagtgagtgg
    21001 ctcttagtgg agagggatgt gctctggaat attaagccac ctctgagcat gtgtcctggt
    21061 gctctggtca agatgcctgt tgtgtatgtg gaggtatttt gtggcttttc ttgttctctc
    21121 tttttaaatt tatttcaagg cacaagccct ttgtgatgga ggatgtctag cttgaacatg
    21181 ctggtaatgt gacactatcc tcagctcccc ttggccctgg gttcatagga ggcaagtgtt
    21241 tctaaatttc tcgcccagtg agttgttgca tgttattttt aaccattaat attgtgtgtc
    21301 tattggaatg agaaacagaa ggttgaatgg gaaatagatt cagtgacaag cagacaaaaa
    21361 gcttggttct gagaaatgtt cttcactgag ttgaaaaaaa aataatctag aaacaaagaa
    21421 gagggaaatt ggggtagaat ggtttggtgg tgaagagacg atgacaccca catccagatg
    21481 ctctggtgta ttccctcaga gatttgtcat tccctgtgag ctctggcaga aggagaggct
    21541 gtgctgccat tgatggctca gaaatggtga caggctggct ttagaaagag acgtaggctt
    21601 tcttccagac agacattgat aagcattgta gctcgattct tcaaaacctt gtctacaaac
    21661 ctttagggca gcccctctcc aatgatttcc attctccagt caagaagatt ctgagtggaa
    21721 gagccttgtg tgcattgtga ttacattgac ttaaattggg aagccaaggg gcactgagaa
    21781 ctgaatatat caggggaatg gagttagctg aacctttttt tttcaatatt ggaatgattt
    21841 tggatcacaa agttaggtca cctctgagag agaaaatctg ttaaataaaa ttatatcttc
    21901 ccatctccag tgaaatcact aggttgttaa tgtgattact gtttacttca gaaagaaaat
    21961 tgctagattc gattacaaat aggcatttta cagattgatt taatcctgag tcttacacat
    22021 attaacatgg aatttactga ctcagacatg atcttctaag ctataaaata ttactggcgg
    22081 gtagtagatc atatgttcta agcaaaccag gaaagctaaa acgttaagta atcctcccaa
    22141 atattcagcg tctgtgtatt tcactatagc tgaaggggat ttgggagtta ggccgcaggg
    22201 gagaggaggg acaaagtgcc atagattaat gaaactcgga gtaacttttt tcttacctat
    22261 taaaaataat aattaaccca aggacaattc tcaaaccaga aaaatcatga aaagtgagct
    22321 ctgcacttgc cattggttaa aatttagaaa cacttagaat aaatatccag gttttggggg
    22381 aggagttgtt tccttgcttg cattgttttg tttactggag ctcttatttt ggggatattt
    22441 ggtctgtggc ttcagagcat gttttggata aatgacttat ccatgttgat atttattgag
    22501 tggaaaccca tgccaggctg ttctaggtgc tggaatataa gaacgaacca cacaaagtcc
    22561 ataccctctt gaagtttgta tgttgatgag aggaaatgga caaaaaagca aatcaataga
    22621 tctcatgtca gatagtgcaa agtgtcatgc agaaaaatga ggcagattaa gggggataga
    22681 tgataggatg ggtgtggggt tgctattttt gagtaagcaa agatgacatt taagtaaagg
    22741 tttggaggaa atgagggagt gagacttggg gctttctatg caaaggcaaa gagaaagcaa
    22801 ttgcaaaggc cctgctgtca aaccaaatgc ttggcaaact tgaggaagag ccgggaggcc
    22861 aatgagggag gaggagagta tgagaggtga ggtcagagag ggggcaataa cgcaagtcag
    22921 gtagggcctt gtaggacact gtcaggattt ggcttttacc aagagcaaga tgagaagttg
    22981 ctagaaggtt cggagcatag agtgatatga tctgacttca gttgaagagg aagctttggg
    23041 actgctgtgt tgagagtata ccctgagagg gcagacaatg gaagcggctg aaagaccggt
    23101 taggaagctc ttgcaataat cctggtaaga gatcatagtt gcttgggcca tgatgttagc
    23161 aggggaggtg ataagaagca gttggattcc agaaatgttt taaagaatcg atatcacaca
    23221 gtttgctgat gaattagaca ttgaataaga gaaagaaaaa tcttaagaat aaccttagaa
    23281 tgtttggcct gagctattga aagtttggag ttgccatcag tgtaagacag gaatcctgca
    23341 ggtgaggctg actgggaagg aaagccttat agtttaaggt gtctacagat gttgcaagta
    23401 gaaatgatga ttaggcaatt agatatatgg acctggagtt cagggaaaat gtatagcctg
    23461 aagatacata tttaaaattt gtatgcgttt ggttggtatt tgaagccatg atactggaac
    23521 tagagaatga gtagcgacag aagaggattc tctagactga ggcccagggt ggaggattgt
    23581 tcaaagctcc aggagatgag aagggaccag caatgggagg agtggttaat gggtaaagca
    23641 agtactatta ttgagtagga taagactatc tggaaacatg gaggtcatcc cattgatgac
    23701 ctggaagaga gctgtttcag tggactggtg ggggcaaaag catgatgggg tggattcaag
    23761 aaagagggga aggagaggag gtagagacaa caggaatagg caacgcttta ggagtttggc
    23821 tgtaaagagg acatggaaat agcagatcat agagaatgtg acgcccaggg agggacttct
    23881 ttttttaaga tgggaaaaat aacagcccat tttatgttga caagactaat ccaggagaaa
    23941 ggaaaaattg atgatgccta gggagagagg acaattgctg gagtaatgtc tttgatgaag
    24001 tgagagggca tgggattcaa tacaaacata gagggactgg cttcagggga ctaaccaggt
    24061 ttgtttgtat taatagcagg gagatagtgc atttgggcac agatgcaagt gggctggtaa
    24121 atgggataat gggagtatgc tttttctgat tgatttttag taaactatga aaggagttca
    24181 tcagttaaga gtgagtatag gggaagagta ttggaggttt tggaaggaag aaagcatgaa
    24241 tgagtcatat agccatccgg caggaagagt gagaacaaaa atgtcggaga caccaaaaat
    24301 ataggagaca tgctaggggg cataaaggaa ttatttgagt ttttatgatt atgagtttaa
    24361 agaaatttgt tttcttcagt caccttcagc tgcttaaaca gggtggcaag ttagattgga
    24421 acagggttgg ggtataacca ggtgaatata atgaaagcaa gagatgtgga gtcaagggca
    24481 actgcagtgt gttaactata atgtttggtc atggaatcta agctgggtgt agaggaaagt
    24541 gaggattttt agggaaggag gaacaatgaa gcatattaga ggcagaggat tgagattcaa
    24601 gctgggatca ctcagttagt gagtcagaag caataacgta gaaattagga ggtgggttgg
    24661 agaggtggat gcttgaggtt atggagggct tgcagttatt ggtggtttgg ggtctgttgt
    24721 tggggtggtg ggctgagata agatagagga aaaggttata gaaggagcag gggtcaagga
    24781 actgagaggc caggatatgg gaattatata gatattgaag tcaacaaaat gttgacttcc
    24841 atatgatagg aatgtaaatt atgacaggaa tgagggagag tgattcgaga acatttcaat
    24901 cattgcatca agtaaggggt gcagctagcc tagtctgatg tgcatcaaag ctggatttta
    24961 tggttgttgc atgttatttt tttttaaaaa ggagggagga tggtctggaa tggcaatgag
    25021 gggcaagaag ggcatctcca cctccaggcc ccagggcatg aggaaggtgc aagtggaaat
    25081 gctcaccacc tgggagtgat tcagggtcct caaagaggag ccaggtttct gtaagagcaa
    25141 gaggaaagga attgccaggg ttgtggctgg tgatgaacca ctgattctta ggcaggattt
    25201 gggagttggt aaaggaaggg aaatgagctg agatgggaga tgtgcatggg tatctgggga
    25261 tgaaagtcca agtgataaga gggactgggg gtcttgggct tctcgtggtg attgccctaa
    25321 gcgaggctgt gggcatttgg ggttggccct aattgtctct atgtcagatt gaggtggtga
    25381 tgctgcaagt gcccggggca gggacttgat ggcagcacat ggaactctgg tacctcttcc
    25441 tcagtcctga tatttgcttt tttaacttct actaaaaacc ccactgctaa ctgtgatagg
    25501 ccacaacatg tttttataga tgtcaacaaa tgttatcctg gattgagacc acattttgac
    25561 tatttatcct ggaaagtaca cattttcaca ggaaatcttg tcctttctaa ggttcccaac
    25621 taagctagtc tcgttgtggg ggggtcataa ttatttgttc ttacttacct tactccttgt
    25681 tcatctttaa aaaaaaaatc aaataaaaag gattggaaag caactttgct tctgcccaat
    25741 tctgctaaat gaaagttttc tctgacagat cattttgatt ttgtattttc ttttgtgaca
    25801 gaaacagtgg gacaggagca tggaaatgaa tgaaagtctt taaaagcctt gagagagcgt
    25861 tttcaaggat caggagaggg cttagaaaga aaaggactct gagtggggct gcatgaaaag
    25921 ggggtaagtg aggactcttg gggagggtct gaaaaaaaca agtagtttgg caaggagagc
    25981 agaaaaataa aattccactg tgtaggcatt tggagattta gcaagagcaa cctagagtct
    26041 gcccccagag acactgcacg ttgtttctga cacagaggat gcactaattc tatttcctgt
    26101 gccacctgaa aaaatcataa tttgagaaga gaaactgtta ggccatttct agtgaactat
    26161 ttttccaaac cctcacggaa ccctgaacag ggtgtgaatg agatcacaac tactgctgct
    26221 gctggttcag cctctctgtc cactaataaa ggcaaaccct tcagcatggt catatcctgc
    26281 cagccgtttt cccccaaaag attaaattat gttcatcttg gctcatctaa cgccacatct
    26341 tgagttctta aggtatcaca gccaactcag tcatacctta ctttatgcac tgagtacgca
    26401 ttaaactcta tttaggaagg aagagggaag caaaggaagc cagggatggt tttgtcatga
    26461 cctctctttg ctttctgacc tcccggaatc cactctttgg aagatgtgca gaaaacaatg
    26521 tgacttccat ttaccctgcc tcagatctcc cctccttcag actggctccc acccctggtt
    26581 aatggggtaa cctgggtacg cctatttgtt aaaggaattt gtgggaagtg aggggcaaaa
    26641 ttgttggagc agagggaata gatttatggg agctttgtta cccagtgact atcccagcat
    26701 taatacttca gagtagccct gacgcttgtg gaaacatttc aagggagcta gaggcaatgt
    26761 tacagtggag atcagagaag ggatggggca gtgagctctt gtccctaggg gaaatctctt
    26821 ttcctccacg tgacaggagc cagtgctcca acagcatcag aattacactt agccacaatg
    26881 actgatgcgt gtgtgtgcct gtgcacatgt gtgtgagcgt gtgtgtgagc gcacgtgtgt
    26941 aagggggtga tgatggaaac atgatatgca tccactatgg ggttgcgttg caaattcaca
    27001 gctgcacccc tcccaaagtc acatggcaga ggggaaatgg tcatagcttt cctgtgtgat
    27061 gtcctctcca gggagcaccg acgactcagg cttgcctcag ctctgcgagg cccagactcc
    27121 acactcctcc ctggggccgg ctctccttcc tcttgactct cagatcccca gcccatccac
    27181 ctccaagttc tttttttgtt tatttgtttt gcttctgttt tctgtaaata tctatttctt
    27241 attttggaca tgcagggatc aattgagatt ctggagtggg gggaggggcg gatgactggg
    27301 tctttttatt ttttcctttc tctcttggat tttggtgttt gaacttgaaa aaaataatta
    27361 caagtatata tataagcaaa tgacttacct ttaaacaaaa gaaataagtt gatttcattc
    27421 ttttgattta tcttgtttct cattggggtc gggtgggggt ggggggtctt ttgggtggag
    27481 ggcttttttg tgagctgtat agatttccag tttggacttg ttcaaatgat gcaggaacaa
    27541 aaattaaaac gaattaaaaa aaagacaaca taaaaaaaca agaaaaactt tgtgatgtat
    27601 aaaagctgta aatagtcaaa gattctttct cttttctaat ggcaaattat ttctgtcact
    27661 ttatattcaa aaaataaaga aacctaccac aaattatcag ggttaaaaaa aatccagaat
    27721 cagagttttt ttcttggtct ttgtgctttc tttactgtga ttccaaaaag attgttaaaa
    27781 gtgctgtttg ggaaaaaccc cttgcccagt tggtttccaa ttgttggtag gagtcttgga
    27841 ctggcgaatc tacttgggtt gggatctgtt tctactatag ctggtgctgg agcccttggt
    27901 tacactcatc tccccctcat gtattattct gaaacaaatc ccataattat atggtttcat
    27961 ctgtaaacat tacagtatat atctctttta ctaaggactc ttttttagtt taacaatacc
    28021 attgtgacat cataaggtag ccataattcc ttgataagaa atatccagtg ttcactaatt
    28081 gtctcaaatg taatactgtt ttatggggtg gtggtgggtt tttttcccat aagtcataag
    28141 gtccatacaa ttagttgcta tttctcaaat gtattttaaa tctaaagatt tgctttctaa
    28201 ctttttcttg acatatactt gttaaaggaa tagagcactt tatcctttag aggttcccac
    28261 agttggattt tgctggttct tcccaatatt aatgaagaca atgtaaattg gtaattgttt
    28321 tactctttaa tgcatacttc cattgcttgg aggtgtcaga aaagcaaacc agcccttgtt
    28381 ttgctgattg tttcccaccc cactcccagt cccagtcctg ttactggctt tatatatgga
    28441 ttctaaatga tctctctttc tataccttga ttgctaaatt atccaagtta aataatagta
    28501 tctccccctt agctatcttg gtaagaaaat agcatagaca tatttagctt ttcacatgcc
    28561 aatcatgagg cacatttcaa catcacttta ttaaaagcca catgctcctc ctatagtcct
    28621 agtactggaa aggaccttct agagaccatt tagaagaact ctgtctcatg gccaaggagc
    28681 ctgggtgagc tcatgtatgg cagccctggc tagaagccag cagggctaat ccctagttcc
    28741 aggaatctcc caggataatg tattgttatc tctttgaagt tactgtctca gagagattat
    28801 ctgtgagggt ctctcttgta ctttcctttg tactgaacaa aaattcttgt ttctccctga
    28861 acattccaga aagtagcaag ctctaacata aagccagatt cttcccagat atagtgattc
    28921 tctttacttc tggagatact tccttaaacc ccaaattttt tttggacaac agaactgctt
    28981 taacaataat ctgaaaatta tacagtaagt ttgatttgaa aatctgagat ttgtttaaaa
    29041 aaaaaagggg gaagacaaga cttgaaatct tggctctgat ttttctgttg tttttgtttt
    29101 tttgtttgtt ttttttttgt ttgtttgttt tttaagaggg tcttgctctg tcatccaggc
    29161 tggagtggag aggtatgatt acggctcact gcagccttga cctcccaggc tcaagtgatt
    29221 ctaccacctc cgcctcctgt gtagctgggt actactggtg cataccacca cactgggctg
    29281 attttgtatt ttttgtagag acggggtttc accatgttgt ccaggctgat tctgaactcc
    29341 tgggttcaag tgatctgcct gcctcggctt cctatgatgc taggattaca ggtgtgagcc
    29401 actgtgccca tcttggctct agttttaaat aaggaagctt gcgagtattt atctggatta
    29461 tggtgggaac ctccagtagg atatcatgaa agctttgatc atgatcacaa caccttcaat
    29521 aaaacaaaga ctccaatgac aagggtgagt gccagaactt cctgagacta tgccaagtgt
    29581 ctgttcttta tacagcctgc ctcacccaca cctggaatct cttaaatgga ttagctcaga
    29641 gcacctgtgt cctacatgcc cttgtgccac cctgaagtcc actgcaaggg actatcagta
    29701 agaccagtct aatgaaaggc tgagggagca cccggttgtg tccccatcag ccaactgttc
    29761 cggaaagatg agcctccttg gctgtcccag gattgacact cttcccctgc atacatcact
    29821 aggaaggtag aacctaccct gaacacttga tttgaatatt tctattcccc tattctttta
    29881 caaatgcaaa ctaattcttt caaaaatata aatgatcctc tgaaagaaat ttcttgtgga
    29941 attctggaat gaccaagaag atgggaagag accaccagaa aagtggttct gagagtctgc
    30001 agggcctgtc aaaaaaatta tgccaaagct atcatttgtg gcctgcatca aatcatctag
    30061 acttccgttt tcttatcttg aaacccagat gttggtctat ctgccctccc catcaaaggt
    30121 tacctggagc agtagttctc agttttacat agtggagtca tctgagtatt tctgaaatgc
    30181 tgatgcctga gtctcatccc ctagagagtc tcattcaatt gtcctgggtg gctggagggg
    30241 ttaggggttg aaaacttgcc caggtgattt taatatacag ccagaatgtg aaccactatg
    30301 tatgtgcatc tggggaaagc gggcctccta tttacttcta atcccattat atgtggcagc
    30361 tgtttgttgt cactctcctc tcaccatgga caactattca cagcacagac agtcaccctt
    30421 tggaactcca ggacctcttt cctcttccat ttggagctga agaatggaca taacggaagc
    30481 accattttat gattacagcc tcgttctcta attctgccta tccccagcat acacggctag
    30541 atatagacat actgcaaagc tcctctatgt aaaggaaatt ctacacataa aatttaaact
    30601 tggaatcga
//
LOCUS       NM_000835               4271 bp    mRNA    linear   PRI 14-DEC-2022
DEFINITION  Homo sapiens glutamate ionotropic receptor NMDA type subunit 2C
            (GRIN2C), transcript variant 1, mRNA.
ACCESSION   NM_000835
VERSION     NM_000835.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4271)
  AUTHORS   Chou TH, Kang H, Simorowski N, Traynelis SF and Furukawa H.
  TITLE     Structural insights into assembly and function of GluN1-2C,
            GluN1-2A-2C, and GluN1-2D NMDARs
  JOURNAL   Mol Cell 82 (23), 4548-4563 (2022)
   PUBMED   36309015
  REMARK    GeneRIF: Structural insights into assembly and function of GluN1-2C,
            GluN1-2A-2C, and GluN1-2D NMDARs.
REFERENCE   2  (bases 1 to 4271)
  AUTHORS   Olajide OJ and Chapman CA.
  TITLE     Amyloid-beta (1-42) peptide induces rapid NMDA receptor-dependent
            alterations at glutamatergic synapses in the entorhinal cortex
  JOURNAL   Neurobiol Aging 105, 296-309 (2021)
   PUBMED   34144329
  REMARK    GeneRIF: Amyloid-beta (1-42) peptide induces rapid NMDA
            receptor-dependent alterations at glutamatergic synapses in the
            entorhinal cortex.
REFERENCE   3  (bases 1 to 4271)
  AUTHORS   Herbrechter R, Hube N, Buchholz R and Reiner A.
  TITLE     Splicing and editing of ionotropic glutamate receptors: a
            comprehensive analysis based on human RNA-Seq data
  JOURNAL   Cell Mol Life Sci 78 (14), 5605-5630 (2021)
   PUBMED   34100982
REFERENCE   4  (bases 1 to 4271)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 4271)
  AUTHORS   Kalsi G, Whiting P, Bourdelles BL, Callen D, Barnard EA and Gurling
            H.
  TITLE     Localization of the human NMDAR2D receptor subunit gene (GRIN2D) to
            19q13.1-qter, the NMDAR2A subunit gene to 16p13.2 (GRIN2A), and the
            NMDAR2C subunit gene (GRIN2C) to 17q24-q25 using somatic cell hybrid
            and radiation hybrid mapping panels
  JOURNAL   Genomics 47 (3), 423-425 (1998)
   PUBMED   9480759
REFERENCE   6  (bases 1 to 4271)
  AUTHORS   Lin YJ, Bovetto S, Carver JM and Giordano T.
  TITLE     Cloning of the cDNA for the human NMDA receptor NR2C subunit and its
            expression in the central nervous system and periphery
  JOURNAL   Brain Res Mol Brain Res 43 (1-2), 57-64 (1996)
   PUBMED   9037519
REFERENCE   7  (bases 1 to 4271)
  AUTHORS   Andersen DL, Tannenberg AE, Burke CJ and Dodd PR.
  TITLE     Developmental rearrangements of cortical glutamate-NMDA receptor
            binding sites in late human gestation
  JOURNAL   Brain Res Dev Brain Res 88 (2), 178-185 (1995)
   PUBMED   8665664
REFERENCE   8  (bases 1 to 4271)
  AUTHORS   Magnuson DS, Knudsen BE, Geiger JD, Brownstone RM and Nath A.
  TITLE     Human immunodeficiency virus type 1 tat activates
            non-N-methyl-D-aspartate excitatory amino acid receptors and causes
            neurotoxicity
  JOURNAL   Ann Neurol 37 (3), 373-380 (1995)
   PUBMED   7695237
REFERENCE   9  (bases 1 to 4271)
  AUTHORS   Takano H, Onodera O, Tanaka H, Mori H, Sakimura K, Hori T, Kobayashi
            H, Mishina M and Tsuji S.
  TITLE     Chromosomal localization of the epsilon 1, epsilon 3 and zeta 1
            subunit genes of the human NMDA receptor channel
  JOURNAL   Biochem Biophys Res Commun 197 (2), 922-926 (1993)
   PUBMED   8267632
REFERENCE   10  (bases 1 to 4271)
  AUTHORS   Monyer H, Sprengel R, Schoepfer R, Herb A, Higuchi M, Lomeli H,
            Burnashev N, Sakmann B and Seeburg PH.
  TITLE     Heteromeric NMDA receptors: molecular and functional distinction of
            subtypes
  JOURNAL   Science 256 (5060), 1217-1221 (1992)
   PUBMED   1350383
  REMARK    GeneRIF: The authors identified and cloned sequences of NMDA
            receptor subunits 2A, 2B, and 2C from rat. They characterized the
            properties of the receptors composed of heteromeric 1-2A and
            heteromeric 1-2C and found that the latter had reduced sensitivity
            to magnesium and smaller conductance compared to the former.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U77782.1, BC140801.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000293190.10/ ENSP00000293190.5
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087651.19 and AC068874.21.
            On Aug 31, 2019 this sequence version replaced NM_000835.5.
            Summary: This gene encodes a subunit of the N-methyl-D-aspartate
            (NMDA) receptor, which is a subtype of ionotropic glutamate
            receptor. NMDA receptors are found in the central nervous system,
            are permeable to cations and have an important role in
            physiological processes such as learning, memory, and synaptic
            development. The receptor is a tetramer of different subunits
            (typically heterodimer of subunit 1 with one or more of subunits
            2A-D), forming a channel that is permeable to calcium, potassium,
            and sodium, and whose properties are determined by subunit
            composition. Alterations in the subunit composition of the receptor
            are associated with pathophysiological conditions such as
            Parkinson's disease, Alzheimer's disease, depression, and
            schizophrenia. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jun 2013].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4271
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..4271
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="glutamate ionotropic receptor NMDA type subunit 2C"
                     /db_xref="GeneID:2905"
                     /db_xref="HGNC:HGNC:4587"
                     /db_xref="MIM:138254"
     misc_feature    113..115
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="upstream in-frame stop codon"
     CDS             158..3859
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; glutamate [NMDA] receptor subunit epsilon-3;
                     N-methyl-D-aspartate receptor subunit 2C; N-methyl
                     D-aspartate receptor subtype 2C; glutamate receptor
                     ionotropic, NMDA 2C; glutamate receptor, ionotropic,
                     N-methyl D-aspartate 2C; GluN2C(del_e2); putative
                     NMDtranscript(del_e4); GluN2C(alt_5'UTR_77nt); putative
                     NMDtranscript(altAcc_e11); GluN2C(alt_5'UTR_87nt); putative
                     NMDtranscript(altDon_e4); GluN2C-b alternative isoform"
                     /codon_start=1
                     /product="glutamate receptor ionotropic, NMDA 2C isoform 1
                     precursor"
                     /protein_id="NP_000826.2"
                     /db_xref="CCDS:CCDS32724.1"
                     /db_xref="GeneID:2905"
                     /db_xref="HGNC:HGNC:4587"
                     /db_xref="MIM:138254"
                     /translation="MGGALGPALLLTSLFGAWAGLGPGQGEQGMTVAVVFSSSGPPQAQ
                     FRARLTPQSFLDLPLEIQPLTVGVNTTNPSSLLTQICGLLGAAHVHGIVFEDNVDTEAV
                     AQILDFISSQTHVPILSISGGSAVVLTPKEPGSAFLQLGVSLEQQLQVLFKVLEEYDWS
                     AFAVITSLHPGHALFLEGVRAVADASHVSWRLLDVVTLELGPGGPRARTQRLLRQLDAP
                     VFVAYCSREEAEVLFAEAAQAGLVGPGHVWLVPNLALGSTDAPPATFPVGLISVVTESW
                     RLSLRQKVRDGVAILALGAHSYWRQHGTLPAPAGDCRVHPGPVSPAREAFYRHLLNVTW
                     EGRDFSFSPGGYLVQPTMVVIALNRHRLWEMVGRWEHGVLYMKYPVWPRYSASLQPVVD
                     SRHLTVATLEERPFVIVESPDPGTGGCVPNTVPCRRQSNHTFSSGDVAPYTKLCCKGFC
                     IDILKKLARVVKFSYDLYLVTNGKHGKRVRGVWNGMIGEVYYKRADMAIGSLTINEERS
                     EIVDFSVPFVETGISVMVARSNGTVSPSAFLEPYSPAVWVMMFVMCLTVVAITVFMFEY
                     FSPVSYNQNLTRGKKSGGPAFTIGKSVWLLWALVFNNSVPIENPRGTTSKIMVLVWAFF
                     AVIFLASYTANLAAFMIQEQYIDTVSGLSDKKFQRPQDQYPPFRFGTVPNGSTERNIRS
                     NYRDMHTHMVKFNQRSVEDALTSLKMGKLDAFIYDAAVLNYMAGKDEGCKLVTIGSGKV
                     FATTGYGIAMQKDSHWKRAIDLALLQFLGDGETQKLETVWLSGICQNEKNEVMSSKLDI
                     DNMAGVFYMLLVAMGLALLVFAWEHLVYWKLRHSVPNSSQLDFLLAFSRGIYSCFSGVQ
                     SLASPPRQASPDLTASSAQASVLKMLQAARDMVTTAGVSSSLDRATRTIENWGGGRRAP
                     PPSPCPTPRSGPSPCLPTPDPPPEPSPTGWGPPDGGRAALVRRAPQPPGRPPTPGPPLS
                     DVSRVSRRPAWEARWPVRTGHCGRHLSASERPLSPARCHYSSFPRADRSGRPFLPLFPE
                     LEDLPLLGPEQLARREALLHAAWARGSRPRHASLPSSVAEAFARPSSLPAGCTGPACAR
                     PDGHSACRRLAQAQSMCLPIYREACQEGEQAGAPAWQHRQHVCLHAHAHLPFCWGAVCP
                     HLPPCASHGSWLSGAWGPLGHRGRTLGLGTGYRDSGGLDEISRVARGTQGFPGPCTWRR
                     ISSLESEV"
     sig_peptide     158..214
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     215..3856
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /product="Glutamate receptor ionotropic, NMDA 2C.
                     /id=PRO_0000011580"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14957.3)"
     misc_feature    365..367
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14957.3); glycosylation site"
     misc_feature    374..376
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14957.3); glycosylation site"
     misc_feature    1166..1168
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14957.3); glycosylation site"
     misc_feature    1469..1471
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14957.3); glycosylation site"
     misc_feature    1772..1774
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14957.3); glycosylation site"
     misc_feature    1820..1876
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14957.3);
                     transmembrane region"
     misc_feature    1958..2017
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14957.3);
                     Region: Pore-forming.
                     /evidence=ECO:0000250|UniProtKB:Q00960"
     misc_feature    1991..1993
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="Functional determinant of NMDA receptors.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (Q14957.3); other site"
     misc_feature    2039..2086
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14957.3);
                     transmembrane region"
     misc_feature    2210..2212
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14957.3); glycosylation site"
     misc_feature    2600..2659
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14957.3);
                     transmembrane region"
     misc_feature    2780..2782
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q01098; propagated from
                     UniProtKB/Swiss-Prot (Q14957.3); phosphorylation site"
     misc_feature    2798..2800
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q01098; propagated from
                     UniProtKB/Swiss-Prot (Q14957.3); phosphorylation site"
     misc_feature    2891..2893
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q00961; propagated from
                     UniProtKB/Swiss-Prot (Q14957.3); phosphorylation site"
     misc_feature    2915..3142
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14957.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3848..3856
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14957.3);
                     Region: PDZ-binding"
     regulatory      4250..4255
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="hexamer: ATTAAA"
     polyA_site      4271
                     /gene="GRIN2C"
                     /gene_synonym="GluN2C; NMDAR2C; NR2C"
                     /note="major polyA site"
ORIGIN
        1 gcatcgcgag tgtccttgag ccgcgggtga cggtggctct cgctgctcgc gccccctcct
       61 cccgcggggg gagcctgatg ccacgttccc tatgaattat ttatcgccgg cctaaaaata
      121 ccccgaactt cacagcccga gtgaccctcc ggtggacatg ggtggggccc tggggccggc
      181 cctgttgctc acctcgctct tcggtgcctg ggcagggctg ggtccggggc agggcgagca
      241 gggcatgacg gtggccgtgg tgtttagcag ctcagggccg ccccaggccc agttccgtgc
      301 ccgcctcacc ccccagagct tcctggacct acccctggag atccagccgc tcacagttgg
      361 ggtcaacacc accaacccca gcagcctcct cacccagatc tgcggcctcc tgggtgctgc
      421 ccacgtccac ggcattgtct ttgaggacaa cgtggacacc gaggcggtgg cccagatcct
      481 tgacttcatc tcctcccaga cccatgtgcc catcctcagc atcagcggag gctctgctgt
      541 ggtcctcacc cccaaggagc cgggctccgc cttcctgcag ctgggcgtgt ccctggagca
      601 gcagctgcag gtgctgttca aggtgctgga agagtacgac tggagcgcct tcgccgtcat
      661 caccagcctg cacccgggcc acgcgctctt cctggagggc gtgcgcgccg tcgccgacgc
      721 cagccacgtg agttggcggc tgctggacgt ggtcacgctg gagctgggcc cgggagggcc
      781 gcgcgcgcgc acgcagcgcc tgctgcgcca gctcgacgcg cccgtgtttg tggcctactg
      841 ctcgcgcgag gaggccgagg tgctcttcgc cgaggcggcg caggccggtc tggtggggcc
      901 cggccacgtg tggctggtgc ccaacctggc gctgggcagc accgatgcgc cccccgccac
      961 cttccccgtg ggcctcatca gcgtcgtcac cgagagctgg cgcctcagcc tgcgccagaa
     1021 ggtgcgcgac ggcgtggcca ttctggccct gggcgcccac agctactggc gccagcatgg
     1081 aaccctgcca gccccggccg gggactgccg tgttcaccct gggcccgtca gccctgcccg
     1141 ggaggccttc tacaggcacc tactgaatgt cacctgggag ggccgagact tctccttcag
     1201 ccctggtggg tacctggtcc agcccaccat ggtggtgatc gccctcaacc ggcaccgcct
     1261 ctgggagatg gtggggcgct gggagcatgg cgtcctatac atgaagtacc ccgtgtggcc
     1321 tcgctacagt gcctctctgc agcctgtggt ggacagtcgg cacctgacgg tggccacgct
     1381 ggaagagcgg ccctttgtca tcgtggagag ccctgaccct ggcacaggag gctgtgtccc
     1441 caacaccgtg ccctgccgca ggcagagcaa ccacaccttc agcagcgggg acgtggcccc
     1501 ctacaccaag ctctgctgta agggattctg catcgacatc ctcaagaagc tggccagagt
     1561 ggtcaaattc tcctacgacc tgtacctggt gaccaacggc aagcatggca agcgggtgcg
     1621 cggcgtatgg aacggcatga ttggggaggt gtactacaag cgggcagaca tggccatcgg
     1681 ctccctcacc atcaatgagg aacgctccga gatcgtagac ttctctgtac cctttgtgga
     1741 gacgggcatc agtgtgatgg tggctcgcag caatggcacc gtctccccct cggccttctt
     1801 ggagccatat agccctgcag tgtgggtgat gatgtttgtc atgtgcctca ctgtggtggc
     1861 catcaccgtc ttcatgttcg agtacttcag ccctgtcagc tacaaccaga acctcaccag
     1921 aggcaagaag tccgggggcc cagctttcac tatcggcaag tccgtgtggc tgctgtgggc
     1981 gctggtcttc aacaactcag tgcccatcga gaacccgcgg ggcaccacca gcaagatcat
     2041 ggttctggtc tgggccttct ttgctgtcat cttcctcgcc agctacacgg ccaacctggc
     2101 cgccttcatg atccaagagc aatacatcga cactgtgtcg ggcctcagtg acaagaagtt
     2161 tcagcggcct caagatcagt acccaccttt ccgcttcggc acggtgccca acggcagcac
     2221 ggagcggaac atccgcagta actaccgtga catgcacacc cacatggtca agttcaacca
     2281 gcgctcggtg gaggacgcgc tcaccagcct caagatgggg aagctggatg ccttcatcta
     2341 tgatgctgct gtcctcaact acatggcagg caaggacgag ggctgcaagc tggtcaccat
     2401 tgggtctggc aaggtctttg ctaccactgg ctacggcatc gccatgcaga aggactccca
     2461 ctggaagcgg gccatagacc tggcgctctt gcagttcctg ggggacggag agacacagaa
     2521 actggagaca gtgtggctct cagggatctg ccagaatgag aagaacgagg tgatgagcag
     2581 caagctggac atcgacaaca tggcaggcgt cttctacatg ctgctggtgg ccatggggct
     2641 ggccctgctg gtcttcgcct gggagcacct ggtctactgg aagctgcgcc actcggtgcc
     2701 caactcatcc cagctggact tcctgctggc tttcagcagg ggcatctaca gctgcttcag
     2761 cggggtgcag agcctcgcca gcccaccgcg gcaggccagc ccggacctca cggccagctc
     2821 ggcccaggcc agcgtgctca agatgctgca ggcagcccgc gacatggtga ccacggcggg
     2881 cgtaagcagc tccctggacc gcgccactcg caccatcgag aattggggtg gcggccgccg
     2941 tgcgccccca ccgtccccct gcccgacccc gcggtctggc cccagcccat gcctgcccac
     3001 ccccgacccg cccccagagc cgagccccac gggctgggga ccgccagacg ggggtcgcgc
     3061 ggcgcttgtg cgcagggctc cgcagccccc gggccgcccc ccgacgccgg ggccgcccct
     3121 gtccgacgtc tcccgagtgt cgcgccgccc agcctgggag gcgcggtggc cggtgcggac
     3181 cgggcactgc gggaggcacc tctcggcctc cgagcggccc ctgtcgcccg cgcgctgtca
     3241 ctacagctcc tttcctcgag ccgaccgatc cggccgcccc ttcctcccgc tcttcccgga
     3301 gctggaggac ctgccgctgc tcggtccgga gcagctggcc cggcgggagg ccctgctgca
     3361 cgcggcctgg gcccggggct cgcgcccgcg tcacgcttcc ctgcccagct ccgtggccga
     3421 ggccttcgct cggcccagct cgctgcccgc tgggtgcacc ggccccgcct gcgcccgccc
     3481 cgacggccac tcggcctgca ggcgcttggc gcaggcgcag tcgatgtgct tgccgatcta
     3541 ccgggaggcc tgccaggagg gcgagcaggc aggggccccc gcctggcagc acagacagca
     3601 cgtctgcctg cacgcccacg cccacctgcc attttgctgg ggggctgtct gtcctcacct
     3661 tccaccctgt gccagccacg gctcctggct ctccggggcc tgggggcctc tggggcacag
     3721 gggcaggact ctggggctgg gcacaggcta cagagacagt gggggactgg acgagatcag
     3781 cagggtagcc cgtgggacgc aaggcttccc gggaccctgc acctggagac ggatctccag
     3841 tctggagtca gaagtgtgag ttatcagcca ctcaggctcc gagccagctg gattctctgc
     3901 ctgccactgt cagggttaag cggcaggcag gattgggctt ttctggcttc tgccatgaaa
     3961 tcctggccat gggaccccag tgacagatga tgtcttccat ggtcatcagt gacctcagta
     4021 gcctcaaatc atggtgaggg ctgggctttt gctgtcctct tctcacgcag agttctgcca
     4081 ggagggtgtg ctgtgggggt cagactcctg aggctctccc ttccctgggg ctagccagtt
     4141 actggtcatg gctgctgtgg gcatggaggc tggaacttgt ggttgaggca gggccatccc
     4201 gatccttgct ctacctggct agagtttctt ctcatcagag cactgggaca ttaaaccaac
     4261 cttttacaac a
//
LOCUS       NM_000836               5511 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens glutamate ionotropic receptor NMDA type subunit 2D
            (GRIN2D), mRNA.
ACCESSION   NM_000836
VERSION     NM_000836.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5511)
  AUTHORS   Vinnakota C, Hudson MR, Jones NC, Sundram S and Hill RA.
  TITLE     Potential Roles for the GluN2D NMDA Receptor Subunit in
            Schizophrenia
  JOURNAL   Int J Mol Sci 24 (14), 11835 (2023)
   PUBMED   37511595
  REMARK    GeneRIF: Potential Roles for the GluN2D NMDA Receptor Subunit in
            Schizophrenia. Review article Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5511)
  AUTHORS   Chen Z, Song Y, Li P and Gao W.
  TITLE     GRIN2D knockdown suppresses the progression of lung adenocarcinoma
            by regulating the E2F signalling pathway
  JOURNAL   Cell Signal 107, 110685 (2023)
   PUBMED   37084840
  REMARK    GeneRIF: GRIN2D knockdown suppresses the progression of lung
            adenocarcinoma by regulating the E2F signalling pathway.
REFERENCE   3  (bases 1 to 5511)
  AUTHORS   Chou TH, Kang H, Simorowski N, Traynelis SF and Furukawa H.
  TITLE     Structural insights into assembly and function of GluN1-2C,
            GluN1-2A-2C, and GluN1-2D NMDARs
  JOURNAL   Mol Cell 82 (23), 4548-4563 (2022)
   PUBMED   36309015
  REMARK    GeneRIF: Structural insights into assembly and function of GluN1-2C,
            GluN1-2A-2C, and GluN1-2D NMDARs.
REFERENCE   4  (bases 1 to 5511)
  AUTHORS   Li Q, Gu Z, Tan Q, Ren L and Chen S.
  TITLE     MicroRNA-129-1-3p Represses the Progression of Triple-Negative
            Breast Cancer by Targeting the GRIN2D Gene
  JOURNAL   Biomed Res Int 2022, 1549357 (2022)
   PUBMED   35295962
  REMARK    GeneRIF: MicroRNA-129-1-3p Represses the Progression of
            Triple-Negative Breast Cancer by Targeting the GRIN2D Gene.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5511)
  AUTHORS   Garst-Orozco J, Malik R, Lanz TA, Weber ML, Xi H, Arion D, Enwright
            JF 3rd, Lewis DA, O'Donnell P, Sohal VS and Buhl DL.
  TITLE     GluN2D-mediated excitatory drive onto medial prefrontal cortical PV+
            fast-spiking inhibitory interneurons
  JOURNAL   PLoS One 15 (6), e0233895 (2020)
   PUBMED   32497062
  REMARK    GeneRIF: GluN2D-mediated excitatory drive onto medial prefrontal
            cortical PV+ fast-spiking inhibitory interneurons. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 5511)
  AUTHORS   Williams CL, Phelps SH and Porter RA.
  TITLE     Expression of Ca2+/calmodulin-dependent protein kinase types II and
            IV, and reduced DNA synthesis due to the Ca2+/calmodulin-dependent
            protein kinase inhibitor KN-62
            (1-[N,O-bis(5-isoquinolinesulfonyl)-N-methyl-L-tyrosyl]-4-phenyl
            piperazine) in small cell lung carcinoma
  JOURNAL   Biochem Pharmacol 51 (5), 707-715 (1996)
   PUBMED   8615909
REFERENCE   7  (bases 1 to 5511)
  AUTHORS   Akbarian S, Sucher NJ, Bradley D, Tafazzoli A, Trinh D, Hetrick WP,
            Potkin SG, Sandman CA, Bunney WE Jr and Jones EG.
  TITLE     Selective alterations in gene expression for NMDA receptor subunits
            in prefrontal cortex of schizophrenics
  JOURNAL   J Neurosci 16 (1), 19-30 (1996)
   PUBMED   8613785
REFERENCE   8  (bases 1 to 5511)
  AUTHORS   Kornau HC, Schenker LT, Kennedy MB and Seeburg PH.
  TITLE     Domain interaction between NMDA receptor subunits and the
            postsynaptic density protein PSD-95
  JOURNAL   Science 269 (5231), 1737-1740 (1995)
   PUBMED   7569905
REFERENCE   9  (bases 1 to 5511)
  AUTHORS   Magnuson DS, Knudsen BE, Geiger JD, Brownstone RM and Nath A.
  TITLE     Human immunodeficiency virus type 1 tat activates
            non-N-methyl-D-aspartate excitatory amino acid receptors and causes
            neurotoxicity
  JOURNAL   Ann Neurol 37 (3), 373-380 (1995)
   PUBMED   7695237
REFERENCE   10  (bases 1 to 5511)
  AUTHORS   Platzer,K., Krey,I. and Lemke,J.R.
  TITLE     GRIN2D-Related Developmental and Epileptic Encephalopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   35914066
COMMENT     ##Evidence-Data-START##
            CDS exon combination      :: U77783.1 [ECO:0000331]
            RNAseq introns :: partial sample support SAMEA2145743, SAMEA2154665
            [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000263269.4/ ENSP00000263269.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011527.4, U77783.1,
            AB209292.1 and AW139866.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 29, 2020 this sequence version replaced NM_000836.3.
            Summary: N-methyl-D-aspartate (NMDA) receptors are a class of
            ionotropic glutamate receptors. NMDA channel has been shown to be
            involved in long-term potentiation, an activity-dependent increase
            in the efficiency of synaptic transmission thought to underlie
            certain kinds of memory and learning. NMDA receptor channels are
            heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and
            1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B
            (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). [provided by
            RefSeq, Mar 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5511
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..5511
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="glutamate ionotropic receptor NMDA type subunit 2D"
                     /db_xref="GeneID:2906"
                     /db_xref="HGNC:HGNC:4588"
                     /db_xref="MIM:602717"
     misc_feature    474..476
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="upstream in-frame stop codon"
     CDS             507..4517
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="estrogen receptor binding CpG island;
                     N-methyl-d-aspartate receptor subunit 2D; glutamate [NMDA]
                     receptor subunit epsilon-4; glutamate receptor ionotropic,
                     NMDA 2D; N-methyl D-aspartate receptor subtype 2D;
                     glutamate receptor, ionotropic, N-methyl D-aspartate 2D"
                     /codon_start=1
                     /product="glutamate receptor ionotropic, NMDA 2D precursor"
                     /protein_id="NP_000827.2"
                     /db_xref="CCDS:CCDS12719.1"
                     /db_xref="GeneID:2906"
                     /db_xref="HGNC:HGNC:4588"
                     /db_xref="MIM:602717"
                     /translation="MRGAGGPRGPRGPAKMLLLLALACASPFPEEAPGPGGAGGPGGGL
                     GGARPLNVALVFSGPAYAAEAARLGPAVAAAVRSPGLDVRPVALVLNGSDPRSLVLQLC
                     DLLSGLRVHGVVFEDDSRAPAVAPILDFLSAQTSLPIVAVHGGAALVLTPKEKGSTFLQ
                     LGSSTEQQLQVIFEVLEEYDWTSFVAVTTRAPGHRAFLSYIEVLTDGSLVGWEHRGALT
                     LDPGAGEAVLSAQLRSVSAQIRLLFCAREEAEPVFRAAEEAGLTGSGYVWFMVGPQLAG
                     GGGSGAPGEPPLLPGGAPLPAGLFAVRSAGWRDDLARRVAAGVAVVARGAQALLRDYGF
                     LPELGHDCRAQNRTHRGESLHRYFMNITWDNRDYSFNEDGFLVNPSLVVISLTRDRTWE
                     VVGSWEQQTLRLKYPLWSRYGRFLQPVDDTQHLTVATLEERPFVIVEPADPISGTCIRD
                     SVPCRSQLNRTHSPPPDAPRPEKRCCKGFCIDILKRLAHTIGFSYDLYLVTNGKHGKKI
                     DGVWNGMIGEVFYQRADMAIGSLTINEERSEIVDFSVPFVETGISVMVARSNGTVSPSA
                     FLEPYSPAVWVMMFVMCLTVVAVTVFIFEYLSPVGYNRSLATGKRPGGSTFTIGKSIWL
                     LWALVFNNSVPVENPRGTTSKIMVLVWAFFAVIFLASYTANLAAFMIQEEYVDTVSGLS
                     DRKFQRPQEQYPPLKFGTVPNGSTEKNIRSNYPDMHSYMVRYNQPRVEEALTQLKAGKL
                     DAFIYDAAVLNYMARKDEGCKLVTIGSGKVFATTGYGIALHKGSRWKRPIDLALLQFLG
                     DDEIEMLERLWLSGICHNDKIEVMSSKLDIDNMAGVFYMLLVAMGLSLLVFAWEHLVYW
                     RLRHCLGPTHRMDFLLAFSRGMYSCCSAEAAPPPAKPPPPPQPLPSPAYPAPRPAPGPA
                     PFVPRERASVDRWRRTKGAGPPGGAGLADGFHRYYGPIEPQGLGLGLGEARAAPRGAAG
                     RPLSPPAAQPPQKPPPSYFAIVRDKEPAEPPAGAFPGFPSPPAPPAAAATAVGPPLCRL
                     AFEDESPPAPARWPRSDPESQPLLGPGAGGAGGTGGAGGGAPAAPPPCRAAPPPCPYLD
                     LEPSPSDSEDSESLGGASLGGLEPWWFADFPYPYAERLGPPPGRYWSVDKLGGWRAGSW
                     DYLPPRSGPAAWHCRHCASLELLPPPRHLSCSHDGLDGGWWAPPPPPWAAGPLPRRRAR
                     CGCPRSHPHRPRASHRTPAAAAPHHHRHRRAAGGWDLPPPAPTSRSLEDLSSCPRAAPA
                     RRLTGPSRHARRCPHAAHWGPPLPTASHRRHRGGDLGTRRGSAHFSSLESEV"
     sig_peptide     507..587
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
     mat_peptide     588..4514
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /product="glutamate receptor ionotropic, NMDA 2D"
     misc_feature    780..782
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O15399.2); glycosylation site"
     misc_feature    1560..1562
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O15399.2); glycosylation site"
     misc_feature    1602..1604
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O15399.2); glycosylation site"
     misc_feature    1656..1658
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O15399.2); glycosylation site"
     misc_feature    1905..1907
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O15399.2); glycosylation site"
     misc_feature    2211..2213
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O15399.2); glycosylation site"
     misc_feature    2259..2315
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="propagated from UniProtKB/Swiss-Prot (O15399.2);
                     transmembrane region"
     misc_feature    2397..2456
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="propagated from UniProtKB/Swiss-Prot (O15399.2);
                     Region: Pore-forming.
                     /evidence=ECO:0000250|UniProtKB:Q00960"
     misc_feature    2430..2432
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="Functional determinant of NMDA receptors.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (O15399.2); other site"
     misc_feature    2478..2525
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="propagated from UniProtKB/Swiss-Prot (O15399.2);
                     transmembrane region"
     misc_feature    2649..2651
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O15399.2); glycosylation site"
     misc_feature    3039..3098
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="propagated from UniProtKB/Swiss-Prot (O15399.2);
                     transmembrane region"
     misc_feature    3204..3308
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="propagated from UniProtKB/Swiss-Prot (O15399.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3447..3875
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="propagated from UniProtKB/Swiss-Prot (O15399.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4179..4514
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="propagated from UniProtKB/Swiss-Prot (O15399.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4452..4454
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q03391; propagated from
                     UniProtKB/Swiss-Prot (O15399.2); methylation site"
     misc_feature    4482..4484
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q03391; propagated from
                     UniProtKB/Swiss-Prot (O15399.2); phosphorylation site"
     misc_feature    4506..4514
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="propagated from UniProtKB/Swiss-Prot (O15399.2);
                     Region: PDZ-binding. /evidence=ECO:0000250"
     regulatory      5485..5490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="hexamer: AATAAA"
     polyA_site      5511
                     /gene="GRIN2D"
                     /gene_synonym="DEE46; EB11; EIEE46; GluN2D; NMDAR2D; NR2D"
                     /note="major polyA site"
ORIGIN
        1 atcccgagtg agtgtgtgtg tgcgagaaca cagcgagtgt gtgagtccct cccgctccag
       61 ctcctccaag ccgcggccgc cgccgccacc ctcgcccgca gcctcccgca gcctccctcg
      121 gccaccggtg cctgctgggg gtgttgcctg ggtaggtcgg cccggccccc aggggtctct
      181 cgagcgtctg ccatctgccc gagcaacatg tgtagccacg tcctcgccta gtccaggtgg
      241 ccgcaacctt gggggagaga cagggcagga caggaccaag gaagaggaag gagagacgga
      301 gccagggaca gacaggaggt ccgggctgcc gctgctgccg ccaccaccac tgccgccgcc
      361 ccggggcctg ccccccgaca tcggctctct gagccctcct cggaatcttg gggtcgctgg
      421 acgccgggtt ccggtcctgg cccccccgcc atccccccaa cagaacaggg tcatgaaaag
      481 aggccgcccg gcggggcccg caggcgatgc gcggcgccgg tggcccccgc ggccctcggg
      541 gccccgctaa gatgctgctg ctgctggcgc tggcctgcgc cagcccgttc ccggaggagg
      601 cgccggggcc gggcggggcc ggtgggcccg gcggcggcct cggcggggcg cggccgctca
      661 acgtggcgct cgtgttctcg gggcccgcgt acgcggccga ggcggcacgc ctgggcccgg
      721 ccgtggcggc ggcggtgcgc agcccgggcc tagacgtgcg gcccgtggcg ctggtgctca
      781 acggctcgga cccgcgcagc ctcgtgctgc agctctgcga cctgctgtcg gggttgcgcg
      841 tgcacggcgt ggtcttcgaa gacgactcgc gcgcgcccgc cgtcgcgccc atcctcgact
      901 tcctgtcggc gcagacctcg ctgcccatcg tggccgtgca cggcggcgcc gcgctcgtgc
      961 tcacgcccaa ggagaagggc tccaccttcc tgcagctggg ctcttccacc gagcaacagc
     1021 ttcaggtcat ctttgaggtg ctggaggagt atgactggac gtcctttgta gccgtgacca
     1081 ctcgtgcccc tggccaccgg gccttcctgt cctacattga ggtgctgact gacggtagtc
     1141 tggtgggctg ggagcaccgc ggagcgctga cgctggaccc tggggcgggc gaggccgtgc
     1201 tcagtgccca gctccgcagt gtcagcgcgc agatccgcct gctcttctgc gcccgagagg
     1261 aggccgagcc cgtgttccgc gcagctgagg aggctggcct cactggatct ggctacgtct
     1321 ggttcatggt ggggccccag ctggctggag gcgggggctc tggggcccct ggtgagcccc
     1381 ctcttctgcc aggaggcgcc cccctgcctg ccgggctgtt tgcagtgcgc tcggctggct
     1441 ggcgggatga cctggctcgg cgagtggcag ctggcgtggc cgtagtggcc agaggtgccc
     1501 aggccctgct gcgtgattat ggtttccttc ctgagctcgg ccacgactgt cgcgcccaga
     1561 accgcaccca ccgcggcgag agtctgcata ggtacttcat gaacatcacg tgggataacc
     1621 gggattactc cttcaatgag gacggcttcc tagtgaaccc ctccctggtg gtcatctccc
     1681 tcaccagaga caggacgtgg gaggtggtgg gcagctggga gcagcagacg ctccgcctca
     1741 agtacccgct gtggtcccgc tatggtcgct tcctgcagcc agtggacgac acgcagcacc
     1801 tcacggtggc cacgctggag gaaaggccgt ttgtcatcgt ggagcctgca gaccctatca
     1861 gcggcacctg catccgagac tccgtcccct gccggagcca gctcaaccga acccacagcc
     1921 ctccaccgga tgccccccgc ccggaaaagc gctgctgcaa gggtttctgc atcgacattc
     1981 tgaagcggct ggcgcatacc atcggcttca gctacgacct ctacctggtc accaatggca
     2041 agcacggaaa gaagatcgat ggcgtctgga acggcatgat cggggaggtg ttctaccagc
     2101 gcgcagacat ggccatcggc tccctcacca tcaacgagga gcgctccgag atcgtggact
     2161 tctccgtccc cttcgtggag accggcatca gcgtcatggt ggcgcgcagc aatggcacgg
     2221 tgtccccctc ggccttcctc gagccctaca gccccgccgt gtgggtgatg atgttcgtca
     2281 tgtgcctcac tgtggtcgcc gtcactgttt tcatcttcga gtacctcagt cctgttggtt
     2341 acaaccgcag cctggccacg ggcaagcgcc ctggcggttc aaccttcacc attgggaaat
     2401 ccatctggct gctctgggcc ctggtgttca ataattcggt gcccgtggag aacccccggg
     2461 gaaccaccag caaaatcatg gtgctggtgt gggccttctt cgccgtcatc ttcctcgcca
     2521 gctacacagc caacctggcc gccttcatga tccaggagga gtacgtggat actgtgtctg
     2581 ggctcagtga ccgcaagttc cagaggcccc aggagcagta cccgcccctg aagtttggga
     2641 ccgtgcccaa cggctccacg gagaagaaca tccgcagcaa ctatcccgac atgcacagct
     2701 acatggtgcg ctacaaccag ccccgcgtag aggaagcgct cactcagctc aaggcaggga
     2761 agctggacgc cttcatctac gatgctgcag tgctcaatta catggcccgc aaggacgagg
     2821 gctgcaagct tgtcaccatc ggctccggca aggtcttcgc cacgacaggc tatggcatcg
     2881 ccctgcacaa gggctcccgc tggaagcggc ccatcgacct ggcgttgctg cagttcctgg
     2941 gggatgatga gatcgagatg ctggagcggc tgtggctctc tgggatctgc cacaatgaca
     3001 aaatcgaggt gatgagcagc aagctggaca tcgacaacat ggcgggcgtc ttctacatgc
     3061 tcctggtggc catgggcctg tccctgctgg tcttcgcctg ggagcacctg gtgtactggc
     3121 gcctgcggca ctgcctgggg cccacccacc gcatggactt cctgctggcc ttctccaggg
     3181 gcatgtacag ctgctgcagc gctgaggccg ccccaccgcc cgccaagccc ccgccgccgc
     3241 cacagcccct gcccagcccc gcgtaccccg cgccgcggcc ggctcccggg cccgcacctt
     3301 tcgtgccccg cgagcgcgcc tcagtggacc gctggcgccg gaccaagggc gcggggccgc
     3361 cggggggcgc gggcctggcc gacggcttcc accgctacta cggccccatc gagccgcagg
     3421 gcctaggcct cggcctgggc gaagcgcgcg cggcaccgcg gggcgcagcc gggcgcccgc
     3481 tgtccccgcc ggccgctcag cccccgcaga agccgccgcc ctcctatttc gccatcgtac
     3541 gcgacaagga gccagccgag ccccccgccg gcgccttccc cggcttcccg tcgccgcccg
     3601 cgccccccgc cgccgcggcc accgccgtcg ggccgccact ctgccgcttg gccttcgagg
     3661 acgagagccc gccggcgccc gcgcggtggc cgcgctcgga ccccgagagc caacccctgc
     3721 tggggccagg cgcgggcggc gcggggggca cggggggcgc aggcggagga gccccggccg
     3781 ctccgccccc gtgccgcgcc gcgccgcccc cgtgccctta cctcgatctc gagccgtcgc
     3841 cgtcggactc ggaggactcg gagagcctgg gcggcgcgtc gctgggcggc ctggagccct
     3901 ggtggttcgc cgacttccct tacccgtatg ccgagcgcct cgggccgccg cccggccgct
     3961 actggtcggt cgacaagctc gggggctggc gcgccgggag ctgggactac ctgcccccgc
     4021 gcagcggtcc ggccgcctgg cactgtcggc actgcgccag cctggagctg ctgccgccgc
     4081 cgcgccatct cagctgctcg cacgatggcc tggacggcgg ctggtgggcg ccaccgcctc
     4141 caccctgggc cgccgggccc ctgccccgac gccgggcccg ctgcgggtgc ccgcggtcgc
     4201 acccgcaccg cccgcgggcc tcgcaccgca cgcccgccgc cgccgcgccc caccaccaca
     4261 ggcaccggcg cgccgctggg ggctgggacc tcccgccgcc cgcgcccacc tcgcgctcgc
     4321 tcgaggacct cagctcgtgc cctcgcgccg cccctgcgcg caggcttacc gggccctccc
     4381 gccacgctcg caggtgtccg cacgccgcgc actgggggcc gccgctgccc acagcttccc
     4441 accggagaca ccggggcggg gacctgggca cccgcagggg ctcggcgcac ttctctagcc
     4501 tcgagtccga ggtatgacgc ggccccgggg gccccaccgc ccccttggtc agcgcaggcc
     4561 acggcccgag ggggcgcccg cagtggacag gacccgcgtg ggttgggaag gaaagcagtg
     4621 gaactggccg gaccccgcct ggagcagcgt cctgcgcccc ctggttctgg aggaaccgca
     4681 agccggagag gatttggtcc ctcaactatc acccagcctg agaacgaggg ggcgggggcc
     4741 ttggagccca ccggactttt ttttaaaccc gacaagggct ttttaacgtc accagatggg
     4801 gcgggaggtg gggggttcac gccactcccg cgtcccacct ccacgcccgg ggccgtggcc
     4861 cccacatcac tgtgcagctc cccggcccca gccgcgcctc cggggaagcc cgtttttaac
     4921 ctttcatcca ttgggactca aaactgtgag acgcgttcgc caaactgtga ccccagacct
     4981 tggccccgcc acacagaaac ccctgaccca gactgtgaca tccgactcct aaaatggtca
     5041 tccgactcca gactgtgacc cctgacccca aactgtgacc cgaaccccag actgtgcccc
     5101 gaccagactg tgacccttga catcaaaccg tgacaccccc tcctcctctt ccaccctcgg
     5161 tcgcttttcc ctactctgac ctaggacacg tccccaacgg aagccccgcc ttcccttgca
     5221 ccgcgatgaa cccaacctcc ctgaagccaa aacttcccac cctgccgcac ctccggacca
     5281 ccccacttgc caccaagcac atcctctcca aatccaaccc ttatttgcga cccttcagtg
     5341 atgacccagc agacctccaa aaagcctcct ctgcccagat ctccagccgg gtctggggct
     5401 gggttgcgga ggggagggtc tgggagtcca cacttctcca ccaacttccc ttcccactct
     5461 cttattccac attgcagtgt ttggaataaa ccatgttttt atgcctcctc a
//
LOCUS       NM_000839               3356 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens glutamate metabotropic receptor 2 (GRM2), transcript
            variant 1, mRNA.
ACCESSION   NM_000839
VERSION     NM_000839.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3356)
  AUTHORS   Ball L, Bauer J and Krautwurst D.
  TITLE     Heterodimerization of Chemoreceptors TAS1R3 and mGlu2 in Human Blood
            Leukocytes
  JOURNAL   Int J Mol Sci 24 (16), 12942 (2023)
   PUBMED   37629122
  REMARK    GeneRIF: Heterodimerization of Chemoreceptors TAS1R3 and mGlu2 in
            Human Blood Leukocytes. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3356)
  AUTHORS   Saha S and Gonzalez-Maeso J.
  TITLE     The crosstalk between 5-HT2AR and mGluR2 in schizophrenia
  JOURNAL   Neuropharmacology 230, 109489 (2023)
   PUBMED   36889432
  REMARK    GeneRIF: The crosstalk between 5-HT2AR and mGluR2 in schizophrenia.
            Review article
REFERENCE   3  (bases 1 to 3356)
  AUTHORS   Wang J, Yang G, Wang X, Wen Z, Shuai L, Luo J, Wang C, Sun Z, Liu R,
            Ge J, He X, Hua R, Wang X, Yang X, Chen W, Zhong G and Bu Z.
  TITLE     SARS-CoV-2 uses metabotropic glutamate receptor subtype 2 as an
            internalization factor to infect cells
  JOURNAL   Cell Discov 7 (1), 119 (2021)
   PUBMED   34903715
  REMARK    Erratum:[Cell Discov. 2021 Dec 27;7(1):124. PMID: 34961770]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3356)
  AUTHORS   Cao AM, Quast RB, Fatemi F, Rondard P, Pin JP and Margeat E.
  TITLE     Allosteric modulators enhance agonist efficacy by increasing the
            residence time of a GPCR in the active state
  JOURNAL   Nat Commun 12 (1), 5426 (2021)
   PUBMED   34521824
  REMARK    GeneRIF: Allosteric modulators enhance agonist efficacy by
            increasing the residence time of a GPCR in the active state.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3356)
  AUTHORS   Gerra MC, Carnevali D, Pedersen IS, Donnini C, Manfredini M,
            Gonzalez-Villar A, Trinanes Y, Pidal-Miranda M, Arendt-Nielsen L and
            Carrillo-de-la-Pena MT.
  TITLE     DNA methylation changes in genes involved in inflammation and
            depression in fibromyalgia: a pilot study
  JOURNAL   Scand J Pain 21 (2), 372-383 (2020)
   PUBMED   34387961
  REMARK    GeneRIF: DNA methylation changes in genes involved in inflammation
            and depression in fibromyalgia: a pilot study. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 3356)
  AUTHORS   Joo A, Shibata H, Ninomiya H, Kawasaki H, Tashiro N and Fukumaki Y.
  TITLE     Structure and polymorphisms of the human metabotropic glutamate
            receptor type 2 gene (GRM2): analysis of association with
            schizophrenia
  JOURNAL   Mol Psychiatry 6 (2), 186-192 (2001)
   PUBMED   11317221
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3356)
  AUTHORS   Snow BE, Hall RA, Krumins AM, Brothers GM, Bouchard D, Brothers CA,
            Chung S, Mangion J, Gilman AG, Lefkowitz RJ and Siderovski DP.
  TITLE     GTPase activating specificity of RGS12 and binding specificity of an
            alternatively spliced PDZ (PSD-95/Dlg/ZO-1) domain
  JOURNAL   J Biol Chem 273 (28), 17749-17755 (1998)
   PUBMED   9651375
REFERENCE   8  (bases 1 to 3356)
  AUTHORS   Gomeza J, Mary S, Brabet I, Parmentier ML, Restituito S, Bockaert J
            and Pin JP.
  TITLE     Coupling of metabotropic glutamate receptors 2 and 4 to G alpha 15,
            G alpha 16, and chimeric G alpha q/i proteins: characterization of
            new antagonists
  JOURNAL   Mol Pharmacol 50 (4), 923-930 (1996)
   PUBMED   8863838
REFERENCE   9  (bases 1 to 3356)
  AUTHORS   Scherer SW, Duvoisin RM, Kuhn R, Heng HH, Belloni E and Tsui LC.
  TITLE     Localization of two metabotropic glutamate receptor genes, GRM3 and
            GRM8, to human chromosome 7q
  JOURNAL   Genomics 31 (2), 230-233 (1996)
   PUBMED   8824806
REFERENCE   10  (bases 1 to 3356)
  AUTHORS   Flor PJ, Lindauer K, Puttner I, Ruegg D, Lukic S, Knopfel T and Kuhn
            R.
  TITLE     Molecular cloning, functional expression and pharmacological
            characterization of the human metabotropic glutamate receptor type 2
  JOURNAL   Eur J Neurosci 7 (4), 622-629 (1995)
   PUBMED   7620613
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.228073.1,
            SRR1803617.255923.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000395052.8/ ENSP00000378492.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA528713.1, AK315816.1,
            AC099050.2 and BC041447.1.
            On Nov 23, 2018 this sequence version replaced NM_000839.4.
            Summary: L-glutamate is the major excitatory neurotransmitter in
            the central nervous system and activates both ionotropic and
            metabotropic glutamate receptors. Glutamatergic neurotransmission
            is involved in most aspects of normal brain function and can be
            perturbed in many neuropathologic conditions. The metabotropic
            glutamate receptors are a family of G protein-coupled receptors,
            that have been divided into 3 groups on the basis of sequence
            homology, putative signal transduction mechanisms, and
            pharmacologic properties. Group I includes GRM1 and GRM5 and these
            receptors have been shown to activate phospholipase C. Group II
            includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7
            and GRM8. Group II and III receptors are linked to the inhibition
            of the cyclic AMP cascade but differ in their agonist
            selectivities. Several transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Mar
            2017].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3356
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.2"
     gene            1..3356
                     /gene="GRM2"
                     /gene_synonym="GLUR2; GPRC1B; mGlu2; MGLUR2"
                     /note="glutamate metabotropic receptor 2"
                     /db_xref="GeneID:2912"
                     /db_xref="HGNC:HGNC:4594"
                     /db_xref="MIM:604099"
     CDS             237..2855
                     /gene="GRM2"
                     /gene_synonym="GLUR2; GPRC1B; mGlu2; MGLUR2"
                     /note="isoform a precursor is encoded by transcript variant
                     1; metabotropic glutamate receptor 2; glutamate receptor
                     homolog; glutamate receptor, metabotropic 2"
                     /codon_start=1
                     /product="metabotropic glutamate receptor 2 isoform a
                     precursor"
                     /protein_id="NP_000830.2"
                     /db_xref="CCDS:CCDS2834.1"
                     /db_xref="GeneID:2912"
                     /db_xref="HGNC:HGNC:4594"
                     /db_xref="MIM:604099"
                     /translation="MGSLLALLALLLLWGAVAEGPAKKVLTLEGDLVLGGLFPVHQKGG
                     PAEDCGPVNEHRGIQRLEAMLFALDRINRDPHLLPGVRLGAHILDSCSKDTHALEQALD
                     FVRASLSRGADGSRHICPDGSYATHGDAPTAITGVIGGSYSDVSIQVANLLRLFQIPQI
                     SYASTSAKLSDKSRYDYFARTVPPDFFQAKAMAEILRFFNWTYVSTVASEGDYGETGIE
                     AFELEARARNICVATSEKVGRAMSRAAFEGVVRALLQKPSARVAVLFTRSEDARELLAA
                     SQRLNASFTWVASDGWGALESVVAGSEGAAEGAITIELASYPISDFASYFQSLDPWNNS
                     RNPWFREFWEQRFRCSFRQRDCAAHSLRAVPFEQESKIMFVVNAVYAMAHALHNMHRAL
                     CPNTTRLCDAMRPVNGRRLYKDFVLNVKFDAPFRPADTHNEVRFDRFGDGIGRYNIFTY
                     LRAGSGRYRYQKVGYWAEGLTLDTSLIPWASPSAGPLPASRCSEPCLQNEVKSVQPGEV
                     CCWLCIPCQPYEYRLDEFTCADCGLGYWPNASLTGCFELPQEYIRWGDAWAVGPVTIAC
                     LGALATLFVLGVFVRHNATPVVKASGRELCYILLGGVFLCYCMTFIFIAKPSTAVCTLR
                     RLGLGTAFSVCYSALLTKTNRIARIFGGAREGAQRPRFISPASQVAICLALISGQLLIV
                     VAWLVVEAPGTGKETAPERREVVTLRCNHRDASMLGSLAYNVLLIALCTLYAFKTRKCP
                     ENFNEAKFIGFTMYTTCIIWLAFLPIFYVTSSDYRVQTTTMCVSVSLSGSVVLGCLFAP
                     KLHIILFQPQKNVVSHRAPTSRFGSAAARASSSLGQGSGSQFVPTVCNGREVVDSTTSS
                     L"
     sig_peptide     237..290
                     /gene="GRM2"
                     /gene_synonym="GLUR2; GPRC1B; mGlu2; MGLUR2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     291..2852
                     /gene="GRM2"
                     /gene_synonym="GLUR2; GPRC1B; mGlu2; MGLUR2"
                     /product="metabotropic glutamate receptor 2 isoform a"
     regulatory      3332..3337
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRM2"
                     /gene_synonym="GLUR2; GPRC1B; mGlu2; MGLUR2"
                     /note="hexamer: AATAAA"
     polyA_site      3356
                     /gene="GRM2"
                     /gene_synonym="GLUR2; GPRC1B; mGlu2; MGLUR2"
                     /note="major polyA site"
ORIGIN
        1 gagcgcagag ccagcgagcc agcgagcgag cgagcgggag ccggagcctc gcgccccccg
       61 ctccactccg attctctccg cgccagagcc agcgcgccag gagctgggtc ccttcgcatc
      121 tctcttcttg tctgtccttt cctggtccct gtttcctcct ctctttgcct tcgctgcttc
      181 taatctcatc ccctggagac ccaggtctgc gggacccatc catccccttt ggggccatgg
      241 gatcgctgct tgcgctcctg gcactgctgc tgctgtgggg tgctgtggct gagggcccag
      301 ccaagaaggt gctgaccctg gagggagact tggtgctggg tgggctgttc ccagtgcacc
      361 agaagggcgg cccagcagag gactgtggtc ctgtcaatga gcaccgtggc atccagcgcc
      421 tggaggccat gctttttgca ctggaccgca tcaaccgtga cccgcacctg ctgcctggcg
      481 tgcgcctggg tgcacacatc ctcgacagtt gctccaagga cacacatgcg ctggagcagg
      541 cactggactt tgtgcgtgcc tcactcagcc gtggtgctga tggctcacgc cacatctgcc
      601 ccgacggctc ttatgcgacc catggtgatg ctcccactgc catcactggt gttattggcg
      661 gttcctacag tgatgtctcc atccaggtgg ccaacctctt gaggctattt cagatcccac
      721 agattagcta cgcctctacc agtgccaagc tgagtgacaa gtcccgctat gactactttg
      781 cccgcacagt gcctcctgac ttcttccaag ccaaggccat ggctgagatt ctccgcttct
      841 tcaactggac ctatgtgtcc actgtggcgt ctgagggcga ctatggcgag acaggcattg
      901 aggcctttga gctagaggct cgtgcccgca acatctgtgt ggccacctcg gagaaagtgg
      961 gccgtgccat gagccgcgcg gcctttgagg gtgtggtgcg agccctgctg cagaagccca
     1021 gtgcccgcgt ggctgtcctg ttcacccgtt ctgaggatgc ccgggagctg cttgctgcca
     1081 gccagcgcct caatgccagc ttcacctggg tggccagtga tggttggggg gccctggaga
     1141 gtgtggtggc aggcagtgag ggggctgctg agggtgctat caccatcgag ctggcctcct
     1201 accccatcag tgactttgcc tcctacttcc agagcctgga cccttggaac aacagccgga
     1261 acccctggtt ccgtgaattc tgggagcaga ggttccgctg cagcttccgg cagcgagact
     1321 gcgcagccca ctctctccgg gctgtgccct ttgagcagga gtccaagatc atgtttgtgg
     1381 tcaatgcagt gtacgccatg gcccatgcgc tccacaacat gcaccgtgcc ctctgcccca
     1441 acaccacccg gctctgtgac gcgatgcggc cagttaacgg gcgccgcctc tacaaggact
     1501 ttgtgctcaa cgtcaagttt gatgccccct ttcgcccagc tgacacccac aatgaggtcc
     1561 gctttgaccg ctttggtgat ggtattggcc gctacaacat cttcacctat ctgcgtgcag
     1621 gcagtgggcg ctatcgctac cagaaggtgg gctactgggc agaaggcttg actctggaca
     1681 ccagcctcat cccatgggcc tcaccctcag ccggccccct gcccgcctct cgctgcagtg
     1741 agccctgcct ccagaatgag gtgaagagtg tgcagccggg cgaagtctgc tgctggctct
     1801 gcattccgtg ccagccctat gagtaccgat tggacgaatt cacttgcgct gattgtggcc
     1861 tgggctactg gcccaatgcc agcctgactg gctgcttcga actgccccag gagtacatcc
     1921 gctggggcga tgcctgggct gtgggacctg tcaccatcgc ctgcctcggt gccctggcca
     1981 ccctctttgt gctgggtgtc tttgtgcggc acaatgccac accagtggtc aaggcctcag
     2041 gtcgggagct ctgctacatc ctgctgggtg gtgtcttcct ctgctactgc atgaccttca
     2101 tcttcattgc caagccatcc acggcagtgt gtaccttacg gcgtcttggt ttgggcactg
     2161 ccttctctgt ctgctactca gccctgctca ccaagaccaa ccgcattgca cgcatcttcg
     2221 gtggggcccg ggagggtgcc cagcggccac gcttcatcag tcctgcctca caggtggcca
     2281 tctgcctggc acttatctcg ggccagctgc tcatcgtggt cgcctggctg gtggtggagg
     2341 caccgggcac aggcaaggag acagcccccg aacggcggga ggtggtgaca ctgcgctgca
     2401 accaccgcga tgcaagtatg ttgggctcgc tggcctacaa tgtgctcctc atcgcgctct
     2461 gcacgcttta tgccttcaag actcgcaagt gccccgaaaa cttcaacgag gccaagttca
     2521 ttggcttcac catgtacacc acctgcatca tctggctggc attcctgccc atcttctatg
     2581 tcacctccag tgactaccgg gtacagacca ccaccatgtg cgtgtcagtc agcctcagcg
     2641 gctccgtggt gcttggctgc ctctttgcgc ccaagctgca catcatcctc ttccagccgc
     2701 agaagaacgt ggttagccac cgggcaccca ccagccgctt tggcagtgct gctgccaggg
     2761 ccagctccag ccttggccaa gggtctggct cccagtttgt ccccactgtt tgcaatggcc
     2821 gtgaggtggt ggactcgaca acgtcatcgc tttgaagacc ccatactccc gccctgacac
     2881 agctgctcct gggaacctag tgcagaccca cgtccagggc caggaggaag ttggctggag
     2941 cactgcaata atttattacc caccctatgt ctgcccccaa agtcacttac ccacctcctt
     3001 accccagctc ttcagactca gaagtcagga gccttggcca ggagcctctg cagtggccac
     3061 taactgccct tgtagctgtg tttcctcctg gccaggccca gggctcagag aggagcaagc
     3121 cagggttcac tctgccctgg acccgggtgg ctgaggacgg caggccccag tcctaaccag
     3181 caaaggtgct tccagcccag cccctccccc caactagggc cttttttatt ttttatataa
     3241 gttactctgg gatggggagg gtggttattg tgggggctgc ccctccccct gcacagtagt
     3301 ttgtcctgtg gtttattttg tattacctgt aaataaagtg gctttatttt aaaaaa
//
LOCUS       NM_000840               4268 bp    mRNA    linear   PRI 10-JUL-2023
DEFINITION  Homo sapiens glutamate metabotropic receptor 3 (GRM3), transcript
            variant 1, mRNA.
ACCESSION   NM_000840
VERSION     NM_000840.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4268)
  AUTHORS   Maier JP, Ravi VM, Kueckelhaus J, Behringer SP, Garrelfs N, Will P,
            Sun N, von Ehr J, Goeldner JM, Pfeifer D, Follo M, Hannibal L, Walch
            AK, Hofmann UG, Beck J, Heiland DH, Schnell O and Joseph K.
  TITLE     Inhibition of metabotropic glutamate receptor III facilitates
            sensitization to alkylating chemotherapeutics in glioblastoma
  JOURNAL   Cell Death Dis 12 (8), 723 (2021)
   PUBMED   34290229
  REMARK    GeneRIF: Inhibition of metabotropic glutamate receptor III
            facilitates sensitization to alkylating chemotherapeutics in
            glioblastoma. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4268)
  AUTHORS   Lu J and Li Y.
  TITLE     Circ_0079593 facilitates proliferation, metastasis, glucose
            metabolism and inhibits apoptosis in melanoma by regulating the
            miR-516b/GRM3 axis
  JOURNAL   Mol Cell Biochem 475 (1-2), 227-237 (2020)
   PUBMED   32839935
  REMARK    GeneRIF: Circ_0079593 facilitates proliferation, metastasis, glucose
            metabolism and inhibits apoptosis in melanoma by regulating the
            miR-516b/GRM3 axis.
REFERENCE   3  (bases 1 to 4268)
  AUTHORS   La TM, Yamada H, Seiriki S, Li SA, Fujise K, Katsumi N, Abe T,
            Watanabe M and Takei K.
  TITLE     Internalization of AMPA-type Glutamate Receptor in the MIN6
            Pancreatic beta-cell Line
  JOURNAL   Cell Struct Funct 45 (2), 121-130 (2020)
   PUBMED   32581155
  REMARK    GeneRIF: Internalization of AMPA-type Glutamate Receptor in the MIN6
            Pancreatic beta-cell Line.
REFERENCE   4  (bases 1 to 4268)
  AUTHORS   Gregory JM, McDade K, Livesey MR, Croy I, Marion de Proce S, Aitman
            T, Chandran S and Smith C.
  TITLE     Spatial transcriptomics identifies spatially dysregulated expression
            of GRM3 and USP47 in amyotrophic lateral sclerosis
  JOURNAL   Neuropathol Appl Neurobiol 46 (5), 441-457 (2020)
   PUBMED   31925813
  REMARK    GeneRIF: Spatial transcriptomics identifies spatially dysregulated
            expression of GRM3 and USP47 in amyotrophic lateral sclerosis.
REFERENCE   5  (bases 1 to 4268)
  AUTHORS   Huang CY, Hsueh YM, Chen LC, Cheng WC, Yu CC, Chen WJ, Lu TL, Lan
            KJ, Lee CH, Huang SP and Bao BY.
  TITLE     Clinical significance of glutamate metabotropic receptors in renal
            cell carcinoma risk and survival
  JOURNAL   Cancer Med 7 (12), 6104-6111 (2018)
   PUBMED   30488581
  REMARK    GeneRIF: We identified multiple novel associations of genetic
            variants in GRM3, GRM4, and GRM5 with the risk and the survival of
            renal cell carcinoma (RCC). These relationships were supported by
            gene expression profiles obtained using bioinformatics analysis.
            Specifically, the expression of GRM4 and GRM5 showed an increasing
            trend in RCC tissues, compared to that in normal tissue, whereas
            GRM3 was downregulated in RCC.
REFERENCE   6  (bases 1 to 4268)
  AUTHORS   Corti C, Xuereb JH, Corsi M and Ferraguti F.
  TITLE     Identification and characterization of the promoter region of the
            GRM3 gene
  JOURNAL   Biochem Biophys Res Commun 286 (2), 381-387 (2001)
   PUBMED   11500049
REFERENCE   7  (bases 1 to 4268)
  AUTHORS   Corti C, Sala CF, Yang F, Corsi M, Xuereb JH and Ferraguti F.
  TITLE     Genomic organization of the human metabotropic glutamate receptor
            subtype 3
  JOURNAL   J Neurogenet 14 (4), 207-225 (2000)
   PUBMED   11342382
REFERENCE   8  (bases 1 to 4268)
  AUTHORS   Makoff A, Volpe F, Lelchuk R, Harrington K and Emson P.
  TITLE     Molecular characterization and localization of human metabotropic
            glutamate receptor type 3
  JOURNAL   Brain Res Mol Brain Res 40 (1), 55-63 (1996)
   PUBMED   8840013
REFERENCE   9  (bases 1 to 4268)
  AUTHORS   Emile L, Mercken L, Apiou F, Pradier L, Bock MD, Menager J, Clot J,
            Doble A and Blanchard JC.
  TITLE     Molecular cloning, functional expression, pharmacological
            characterization and chromosomal localization of the human
            metabotropic glutamate receptor type 3
  JOURNAL   Neuropharmacology 35 (5), 523-530 (1996)
   PUBMED   8887960
REFERENCE   10  (bases 1 to 4268)
  AUTHORS   Scherer SW, Duvoisin RM, Kuhn R, Heng HH, Belloni E and Tsui LC.
  TITLE     Localization of two metabotropic glutamate receptor genes, GRM3 and
            GRM8, to human chromosome 7q
  JOURNAL   Genomics 31 (2), 230-233 (1996)
   PUBMED   8824806
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC041407.1, X77748.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000361669.7/ ENSP00000355316.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004829.2, BC041407.1,
            X77748.1 and AC002081.1.
            On Aug 13, 2020 this sequence version replaced NM_000840.2.
            Summary: L-glutamate is the major excitatory neurotransmitter in
            the central nervous system and activates both ionotropic and
            metabotropic glutamate receptors. Glutamatergic neurotransmission
            is involved in most aspects of normal brain function and can be
            perturbed in many neuropathologic conditions. The metabotropic
            glutamate receptors are a family of G protein-coupled receptors,
            that have been divided into 3 groups on the basis of sequence
            homology, putative signal transduction mechanisms, and
            pharmacologic properties. Group I includes GRM1 and GRM5 and these
            receptors have been shown to activate phospholipase C. Group II
            includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7
            and GRM8. Group II and III receptors are linked to the inhibition
            of the cyclic AMP cascade but differ in their agonist
            selectivities. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..4268
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.11-q21.12"
     gene            1..4268
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /note="glutamate metabotropic receptor 3"
                     /db_xref="GeneID:2913"
                     /db_xref="HGNC:HGNC:4595"
                     /db_xref="MIM:601115"
     misc_feature    1048..1050
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /note="upstream in-frame stop codon"
     CDS             1105..3744
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; metabotropic glutamate receptor 3; glutamate receptor,
                     metabotropic 3"
                     /codon_start=1
                     /product="metabotropic glutamate receptor 3 isoform 1
                     precursor"
                     /protein_id="NP_000831.2"
                     /db_xref="CCDS:CCDS5600.1"
                     /db_xref="GeneID:2913"
                     /db_xref="HGNC:HGNC:4595"
                     /db_xref="MIM:601115"
                     /translation="MKMLTRLQVLTLALFSKGFLLSLGDHNFLRREIKIEGDLVLGGLF
                     PINEKGTGTEECGRINEDRGIQRLEAMLFAIDEINKDDYLLPGVKLGVHILDTCSRDTY
                     ALEQSLEFVRASLTKVDEAEYMCPDGSYAIQENIPLLIAGVIGGSYSSVSIQVANLLRL
                     FQIPQISYASTSAKLSDKSRYDYFARTVPPDFYQAKAMAEILRFFNWTYVSTVASEGDY
                     GETGIEAFEQEARLRNICIATAEKVGRSNIRKSYDSVIRELLQKPNARVVVLFMRSDDS
                     RELIAAASRANASFTWVASDGWGAQESIIKGSEHVAYGAITLELASQPVRQFDRYFQSL
                     NPYNNHRNPWFRDFWEQKFQCSLQNKRNHRRVCDKHLAIDSSNYEQESKIMFVVNAVYA
                     MAHALHKMQRTLCPNTTKLCDAMKILDGKKLYKDYLLKINFTAPFNPNKDADSIVKFDT
                     FGDGMGRYNVFNFQNVGGKYSYLKVGHWAETLSLDVNSIHWSRNSVPTSQCSDPCAPNE
                     MKNMQPGDVCCWICIPCEPYEYLADEFTCMDCGSGQWPTADLTGCYDLPEDYIRWEDAW
                     AIGPVTIACLGFMCTCMVVTVFIKHNNTPLVKASGRELCYILLFGVGLSYCMTFFFIAK
                     PSPVICALRRLGLGSSFAICYSALLTKTNCIARIFDGVKNGAQRPKFISPSSQVFICLG
                     LILVQIVMVSVWLILEAPGTRRYTLAEKRETVILKCNVKDSSMLISLTYDVILVILCTV
                     YAFKTRKCPENFNEAKFIGFTMYTTCIIWLAFLPIFYVTSSDYRVQTTTMCISVSLSGF
                     VVLGCLFAPKVHIILFQPQKNVVTHRLHLNRFSVSGTGTTYSQSSASTYVPTVCNGREV
                     LDSTTSSL"
     sig_peptide     1105..1176
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    1729..1731
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14832.2); glycosylation site"
     misc_feature    1978..1980
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14832.2); glycosylation site"
     misc_feature    2344..2346
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14832.2); glycosylation site"
     misc_feature    2419..2421
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14832.2); glycosylation site"
     misc_feature    2833..2901
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14832.2);
                     transmembrane region"
     misc_feature    2944..3006
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14832.2);
                     transmembrane region"
     misc_feature    3040..3096
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14832.2);
                     transmembrane region"
     misc_feature    3169..3231
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14832.2);
                     transmembrane region"
     misc_feature    3307..3372
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14832.2);
                     transmembrane region"
     misc_feature    3412..3480
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14832.2);
                     transmembrane region"
     misc_feature    3511..3588
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14832.2);
                     transmembrane region"
     regulatory      4243..4248
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /note="hexamer: AATAAA"
     polyA_site      4268
                     /gene="GRM3"
                     /gene_synonym="GLUR3; GPRC1C; mGlu3; MGLUR3"
                     /note="major polyA site"
ORIGIN
        1 gcagtgtgca gttgagtcgc gagtacggct gagctgcgta ccggcctccc tggctctcac
       61 actccctctc tgctcccgct ctcctaatct cctctggcat gcggtcagcc ccctgcccag
      121 ggaccacagg agagttcttg taaggactgt tagtccctgc ttacctgaaa gccaagcgct
      181 ctagcagagc tttaaagttg gagccgccac cctccctacc gccccatgcc ccttcacccc
      241 actccgaaat tcaccgacct ttgcatgcac tgcctaagga tttcagagtg aggcaaagca
      301 gtcggcaaat ctaccctggc ttttcgtata aaaatcctct cgtctaggta ccctggctca
      361 ctgaagactc tgcagatata cccttataag agggagggtg ggggagggaa aagaacgaga
      421 gagggaggaa agaatgaaaa ggagaggatg ccaggaggtc cgtgcttctg ccaagagtcc
      481 caattagatg cgacggcttc agcctggtca aggtgaagga aagttgcttc cgcgcctagg
      541 aagtgggttt gcctgataag agaaggagga ggggactcgg ctgggaagag ctcccctccc
      601 ctccgcggaa gaccactggg tcccctcttt ccccaacctc ctccctctct tctactccac
      661 ccctccgttt tcccactccc cactgactcg gatgcctgga tgttctgcca ccgggcagtg
      721 gtccagcgtg cagccgggag ggggcagggg cagggggcac tgtgacagga agctgcgcgc
      781 acaagttggc catttcgagg gcaaaataag ttctcccttg gatttggaaa ggacaaagcc
      841 agtaagctac ctcttttgtg tcggatgagg aggaccaacc atgagccaga gcccgggtgc
      901 aggctcaccg ccgccgctgc caccgcggtc agctccagtt cctgccagga gttgtcggtg
      961 cgaggaattt tgtgacaggc tctgttagtc tgttcctccc ttatttgaag gacaggccaa
     1021 agatccagtt tggaaatgag agaggactag catgacacat tggctccacc attgatatct
     1081 cccagaggta cagaaacagg attcatgaag atgttgacaa gactgcaagt tcttacctta
     1141 gctttgtttt caaagggatt tttactctct ttaggggacc ataactttct aaggagagag
     1201 attaaaatag aaggtgacct tgttttaggg ggcctgtttc ctattaacga aaaaggcact
     1261 ggaactgaag aatgtgggcg aatcaatgaa gaccgaggga ttcaacgcct ggaagccatg
     1321 ttgtttgcta ttgatgaaat caacaaagat gattacttgc taccaggagt gaagttgggt
     1381 gttcacattt tggatacatg ttcaagggat acctatgcat tggagcaatc actggagttt
     1441 gtcagggcat ctttgacaaa agtggatgaa gctgagtata tgtgtcctga tggatcctat
     1501 gccattcaag aaaacatccc acttctcatt gcaggggtca ttggtggctc ttatagcagt
     1561 gtttccatac aggtggcaaa cctgctgcgg ctcttccaga tccctcagat cagctacgca
     1621 tccaccagcg ccaaactcag tgataagtcg cgctatgatt actttgccag gaccgtgccc
     1681 cccgacttct accaggccaa agccatggct gagatcttgc gcttcttcaa ctggacctac
     1741 gtgtccacag tagcctccga gggtgattac ggggagacag ggatcgaggc cttcgagcag
     1801 gaagcccgcc tgcgcaacat ctgcatcgct acggcggaga aggtgggccg ctccaacatc
     1861 cgcaagtcct acgacagcgt gatccgagaa ctgttgcaga agcccaacgc gcgcgtcgtg
     1921 gtcctcttca tgcgcagcga cgactcgcgg gagctcattg cagccgccag ccgcgccaat
     1981 gcctccttca cctgggtggc cagcgacggc tggggcgcgc aggagagcat catcaagggc
     2041 agcgagcatg tggcctacgg cgccatcacc ctggagctgg cctcccagcc tgtccgccag
     2101 ttcgaccgct acttccagag cctcaacccc tacaacaacc accgcaaccc ctggttccgg
     2161 gacttctggg agcaaaagtt tcagtgcagc ctccagaaca aacgcaacca caggcgcgtc
     2221 tgcgacaagc acctggccat cgacagcagc aactacgagc aagagtccaa gatcatgttt
     2281 gtggtgaacg cggtgtatgc catggcccac gctttgcaca aaatgcagcg caccctctgt
     2341 cccaacacta ccaagctttg tgatgctatg aagatcctgg atgggaagaa gttgtacaag
     2401 gattacttgc tgaaaatcaa cttcacggct ccattcaacc caaataaaga tgcagatagc
     2461 atagtcaagt ttgacacttt tggagatgga atggggcgat acaacgtgtt caatttccaa
     2521 aatgtaggtg gaaagtattc ctacttgaaa gttggtcact gggcagaaac cttatcgcta
     2581 gatgtcaact ctatccactg gtcccggaac tcagtcccca cttcccagtg cagcgacccc
     2641 tgtgccccca atgaaatgaa gaatatgcaa ccaggggatg tctgctgctg gatttgcatc
     2701 ccctgtgaac cctacgaata cctggctgat gagtttacct gtatggattg tgggtctgga
     2761 cagtggccca ctgcagacct aactggatgc tatgaccttc ctgaggacta catcaggtgg
     2821 gaagacgcct gggccattgg cccagtcacc attgcctgtc tgggttttat gtgtacatgc
     2881 atggttgtaa ctgtttttat caagcacaac aacacaccct tggtcaaagc atcgggccga
     2941 gaactctgct acatcttatt gtttggggtt ggcctgtcat actgcatgac attcttcttc
     3001 attgccaagc catcaccagt catctgtgca ttgcgccgac tcgggctggg gagttccttc
     3061 gctatctgtt actcagccct gctgaccaag acaaactgca ttgcccgcat cttcgatggg
     3121 gtcaagaatg gcgctcagag gccaaaattc atcagcccca gttctcaggt tttcatctgc
     3181 ctgggtctga tcctggtgca aattgtgatg gtgtctgtgt ggctcatcct ggaggcccca
     3241 ggcaccagga ggtataccct tgcagagaag cgggaaacag tcatcctaaa atgcaatgtc
     3301 aaagattcca gcatgttgat ctctcttacc tacgatgtga tcctggtgat cttatgcact
     3361 gtgtacgcct tcaaaacgcg gaagtgccca gaaaatttca acgaagctaa gttcataggt
     3421 tttaccatgt acaccacgtg catcatctgg ttggccttcc tccctatatt ttatgtgaca
     3481 tcaagtgact acagagtgca gacgacaacc atgtgcatct ctgtcagcct gagtggcttt
     3541 gtggtcttgg gctgtttgtt tgcacccaag gttcacatca tcctgtttca accccagaag
     3601 aatgttgtca cacacagact gcacctcaac aggttcagtg tcagtggaac tgggaccaca
     3661 tactctcagt cctctgcaag cacgtatgtg ccaacggtgt gcaatgggcg ggaagtcctc
     3721 gactccacca cctcatctct gtgattgtga attgcagttc agttcttgtg tttttagact
     3781 gttagacaaa agtgctcacg tgcagctcca gaatatggaa acagagcaaa agaacaaccc
     3841 tagtaccttt ttttagaaac agtacgataa attatttttg aggactgtat atagtgatgt
     3901 gctagaactt tctaggctga gtctagtgcc cctattatta acaattcccc cagaacatgg
     3961 aaataaccat tgtttacaga gctgagcatt ggtgacaggg tctgacatgg tcagtctact
     4021 aaaaaacaaa aaaaaaaaac aaaaaaaaaa aaacaaaaga aaaaaataaa aatacggtgg
     4081 caatattatg taaccttttt tcctatgaag ttttttgtag gtccttgttg taactaattt
     4141 aggatgagtt tctatgttgt atattaaagt tacattatgt gtaacagatt gattttctca
     4201 gcacaaaata aaaagcatct gtattaatgt aaagatactg agaataaaac cttcaaggtt
     4261 ttccagca
//
LOCUS       NM_000841               7368 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens glutamate metabotropic receptor 4 (GRM4), transcript
            variant 1, mRNA.
ACCESSION   NM_000841
VERSION     NM_000841.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7368)
  AUTHORS   Hofmann CS, Carrington S, Keller AN, Gregory KJ and Niswender CM.
  TITLE     Regulation and functional consequences of mGlu4 RNA editing
  JOURNAL   RNA 27 (10), 1220-1240 (2021)
   PUBMED   34244459
  REMARK    GeneRIF: Regulation and functional consequences of mGlu4 RNA
            editing.
REFERENCE   2  (bases 1 to 7368)
  AUTHORS   Lin S, Han S, Cai X, Tan Q, Zhou K, Wang D, Wang X, Du J, Yi C, Chu
            X, Dai A, Zhou Y, Chen Y, Zhou Y, Liu H, Liu J, Yang D, Wang MW,
            Zhao Q and Wu B.
  TITLE     Structures of Gi-bound metabotropic glutamate receptors mGlu2 and
            mGlu4
  JOURNAL   Nature 594 (7864), 583-588 (2021)
   PUBMED   34135510
  REMARK    GeneRIF: Structures of Gi-bound metabotropic glutamate receptors
            mGlu2 and mGlu4.
REFERENCE   3  (bases 1 to 7368)
  AUTHORS   Zhang Q, Chen X, Li S, Yao T and Wu J.
  TITLE     Association between the group III metabotropic glutamate receptor
            gene polymorphisms and attention-deficit/hyperactivity disorder and
            functional exploration of risk loci
  JOURNAL   J Psychiatr Res 132, 65-71 (2021)
   PUBMED   33068816
  REMARK    GeneRIF: Association between the group III metabotropic glutamate
            receptor gene polymorphisms and attention-deficit/hyperactivity
            disorder and functional exploration of risk loci.
REFERENCE   4  (bases 1 to 7368)
  AUTHORS   Zhang Z, Li N, Wei X, Chen B, Zhang Y, Zhao Y, Hu X and Hou S.
  TITLE     GRM4 inhibits the proliferation, migration, and invasion of human
            osteosarcoma cells through interaction with CBX4
  JOURNAL   Biosci Biotechnol Biochem 84 (2), 279-289 (2020)
   PUBMED   31581881
  REMARK    GeneRIF: This is the evidence supporting the interaction between
            GRM4 and CBX4, which could inhibit the malignant behavior of
            osteosarcoma cells through the GRM4/CBX4/HIF-1alpha signaling
            pathway
REFERENCE   5  (bases 1 to 7368)
  AUTHORS   Kansara M, Thomson K, Pang P, Dutour A, Mirabello L, Acher F, Pin
            JP, Demicco EG, Yan J, Teng MWL, Smyth MJ and Thomas DM.
  TITLE     Infiltrating Myeloid Cells Drive Osteosarcoma Progression via GRM4
            Regulation of IL23
  JOURNAL   Cancer Discov 9 (11), 1511-1519 (2019)
   PUBMED   31527131
  REMARK    GeneRIF: Infiltrating Myeloid Cells Drive Osteosarcoma Progression
            via GRM4 Regulation of IL23.
REFERENCE   6  (bases 1 to 7368)
  AUTHORS   Wu S, Wright RA, Rockey PK, Burgett SG, Arnold JS, Rosteck PR Jr,
            Johnson BG, Schoepp DD and Belagaje RM.
  TITLE     Group III human metabotropic glutamate receptors 4, 7 and 8:
            molecular cloning, functional expression, and comparison of
            pharmacological properties in RGT cells
  JOURNAL   Brain Res Mol Brain Res 53 (1-2), 88-97 (1998)
   PUBMED   9473604
REFERENCE   7  (bases 1 to 7368)
  AUTHORS   Gomeza J, Mary S, Brabet I, Parmentier ML, Restituito S, Bockaert J
            and Pin JP.
  TITLE     Coupling of metabotropic glutamate receptors 2 and 4 to G alpha 15,
            G alpha 16, and chimeric G alpha q/i proteins: characterization of
            new antagonists
  JOURNAL   Mol Pharmacol 50 (4), 923-930 (1996)
   PUBMED   8863838
REFERENCE   8  (bases 1 to 7368)
  AUTHORS   Makoff A, Lelchuk R, Oxer M, Harrington K and Emson P.
  TITLE     Molecular characterization and localization of human metabotropic
            glutamate receptor type 4
  JOURNAL   Brain Res Mol Brain Res 37 (1-2), 239-248 (1996)
   PUBMED   8738157
REFERENCE   9  (bases 1 to 7368)
  AUTHORS   Scherer SW, Duvoisin RM, Kuhn R, Heng HH, Belloni E and Tsui LC.
  TITLE     Localization of two metabotropic glutamate receptor genes, GRM3 and
            GRM8, to human chromosome 7q
  JOURNAL   Genomics 31 (2), 230-233 (1996)
   PUBMED   8824806
REFERENCE   10  (bases 1 to 7368)
  AUTHORS   Flor PJ, Lukic S, Ruegg D, Leonhardt T, Knopfel T and Kuhn R.
  TITLE     Molecular cloning, functional expression and pharmacological
            characterization of the human metabotropic glutamate receptor type 4
  JOURNAL   Neuropharmacology 34 (2), 149-155 (1995)
   PUBMED   7617140
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.12994.1,
            SRR1660807.159777.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03465402,
            SAMN03465403 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000538487.7/ ENSP00000440556.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA094245.1, X80818.1,
            AL590403.13 and BM683737.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000841.3.
            Summary: L-glutamate is the major excitatory neurotransmitter in
            the central nervous system and activates both ionotropic and
            metabotropic glutamate receptors. Glutamatergic neurotransmission
            is involved in most aspects of normal brain function and can be
            perturbed in many neuropathologic conditions. The metabotropic
            glutamate receptors are a family of G protein-coupled receptors,
            that have been divided into 3 groups on the basis of sequence
            homology, putative signal transduction mechanisms, and
            pharmacologic properties. Group I includes GRM1 and GRM5 and these
            receptors have been shown to activate phospholipase C. Group II
            includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7
            and GRM8. Group II and III receptors are linked to the inhibition
            of the cyclic AMP cascade but differ in their agonist
            selectivities. Several transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Feb
            2012].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7368
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..7368
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="glutamate metabotropic receptor 4"
                     /db_xref="GeneID:2914"
                     /db_xref="HGNC:HGNC:4596"
                     /db_xref="MIM:604100"
     misc_feature    308..310
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="upstream in-frame stop codon"
     CDS             452..3190
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; glutamate receptor, metabotropic 4"
                     /codon_start=1
                     /product="metabotropic glutamate receptor 4 isoform 1
                     precursor"
                     /protein_id="NP_000832.1"
                     /db_xref="CCDS:CCDS4787.1"
                     /db_xref="GeneID:2914"
                     /db_xref="HGNC:HGNC:4596"
                     /db_xref="MIM:604100"
                     /translation="MPGKRGLGWWWARLPLCLLLSLYGPWMPSSLGKPKGHPHMNSIRI
                     DGDITLGGLFPVHGRGSEGKPCGELKKEKGIHRLEAMLFALDRINNDPDLLPNITLGAR
                     ILDTCSRDTHALEQSLTFVQALIEKDGTEVRCGSGGPPIITKPERVVGVIGASGSSVSI
                     MVANILRLFKIPQISYASTAPDLSDNSRYDFFSRVVPSDTYQAQAMVDIVRALKWNYVS
                     TVASEGSYGESGVEAFIQKSREDGGVCIAQSVKIPREPKAGEFDKIIRRLLETSNARAV
                     IIFANEDDIRRVLEAARRANQTGHFFWMGSDSWGSKIAPVLHLEEVAEGAVTILPKRMS
                     VRGFDRYFSSRTLDNNRRNIWFAEFWEDNFHCKLSRHALKKGSHVKKCTNRERIGQDSA
                     YEQEGKVQFVIDAVYAMGHALHAMHRDLCPGRVGLCPRMDPVDGTQLLKYIRNVNFSGI
                     AGNPVTFNENGDAPGRYDIYQYQLRNDSAEYKVIGSWTDHLHLRIERMHWPGSGQQLPR
                     SICSLPCQPGERKKTVKGMPCCWHCEPCTGYQYQVDRYTCKTCPYDMRPTENRTGCRPI
                     PIIKLEWGSPWAVLPLFLAVVGIAATLFVVITFVRYNDTPIVKASGRELSYVLLAGIFL
                     CYATTFLMIAEPDLGTCSLRRIFLGLGMSISYAALLTKTNRIYRIFEQGKRSVSAPRFI
                     SPASQLAITFSLISLQLLGICVWFVVDPSHSVVDFQDQRTLDPRFARGVLKCDISDLSL
                     ICLLGYSMLLMVTCTVYAIKTRGVPETFNEAKPIGFTMYTTCIVWLAFIPIFFGTSQSA
                     DKLYIQTTTLTVSVSLSASVSLGMLYMPKVYIILFHPEQNVPKRKRSLKAVVTAATMSN
                     KFTQKGNFRPNGEAKSELCENLEAPALATKQTYVTYTNHAI"
     sig_peptide     452..547
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     548..3187
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /product="Metabotropic glutamate receptor 4.
                     /id=PRO_0000012930"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14833.1)"
     misc_feature    743..745
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14833.1); glycosylation site"
     misc_feature    1352..1354
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14833.1); glycosylation site"
     misc_feature    1811..1813
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14833.1); glycosylation site"
     misc_feature    1901..1903
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14833.1); glycosylation site"
     misc_feature    2156..2158
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14833.1); glycosylation site"
     misc_feature    2213..2281
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14833.1);
                     transmembrane region"
     misc_feature    2324..2386
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14833.1);
                     transmembrane region"
     misc_feature    2420..2476
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14833.1);
                     transmembrane region"
     misc_feature    2549..2611
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14833.1);
                     transmembrane region"
     misc_feature    2702..2767
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14833.1);
                     transmembrane region"
     misc_feature    2807..2875
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14833.1);
                     transmembrane region"
     misc_feature    2915..2992
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14833.1);
                     transmembrane region"
     regulatory      4135..4140
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="hexamer: AATAAA"
     polyA_site      4160
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="major polyA site"
     regulatory      7349..7354
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
                     /note="hexamer: ATTAAA"
     polyA_site      7368
                     /gene="GRM4"
                     /gene_synonym="GPRC1D; mGlu4; MGLUR4"
ORIGIN
        1 gctgtacttt tctgggtgtg tgttagggag gctatgttcc tgaccctccc cctctggggt
       61 gagaaggggt ccccgccatg tcctcggggt tggtaggagg agaggattgg agctgttttc
      121 tccttgatgc caagatacgc caagctagga gcattctgcc ctttccacag tcatccaccg
      181 agaacaggcc tgcaggacgg gacaaggatc agagccttcc tgcaaccccg gccactgcct
      241 gctgtctgtg ggcctggact gtgcgggcaa ctgtgcttgg cccgagtgac aaggaggtgg
      301 gagagggtag cagcatgggc tacgcggttg gctgccctca gtccccctgc tgctgaagct
      361 gccctgccca tgcccaccca ggccgtgggg ccaggggcct gccagggcta ggagtgggcc
      421 tgccgttcat gggtctctag ggatttccga gatgcctggg aagagaggct tgggctggtg
      481 gtgggcccgg ctgccccttt gcctgctcct cagcctttac ggcccctgga tgccttcctc
      541 cctgggaaag cccaaaggcc accctcacat gaattccatc cgcatagatg gggacatcac
      601 actgggaggc ctgttcccgg tgcatggccg gggctcagag ggcaagccct gtggagaact
      661 taagaaggaa aagggcatcc accggctgga ggccatgctg ttcgccctgg atcgcatcaa
      721 caacgacccg gacctgctgc ctaacatcac gctgggcgcc cgcattctgg acacctgctc
      781 cagggacacc catgccctcg agcagtcgct gacctttgtg caggcgctca tcgagaagga
      841 tggcacagag gtccgctgtg gcagtggcgg cccacccatc atcaccaagc ctgaacgtgt
      901 ggtgggtgtc atcggtgctt cagggagctc ggtctccatc atggtggcca acatccttcg
      961 cctcttcaag ataccccaga tcagctacgc ctccacagcg ccagacctga gtgacaacag
     1021 ccgctacgac ttcttctccc gcgtggtgcc ctcggacacg taccaggccc aggccatggt
     1081 ggacatcgtc cgtgccctca agtggaacta tgtgtccaca gtggcctcgg agggcagcta
     1141 tggtgagagc ggtgtggagg ccttcatcca gaagtcccgt gaggacgggg gcgtgtgcat
     1201 cgcccagtcg gtgaagatac cacgggagcc caaggcaggc gagttcgaca agatcatccg
     1261 ccgcctcctg gagacttcga acgccagggc agtcatcatc tttgccaacg aggatgacat
     1321 caggcgtgtg ctggaggcag cacgaagggc caaccagaca ggccatttct tctggatggg
     1381 ctctgacagc tggggctcca agattgcacc tgtgctgcac ctggaggagg tggctgaggg
     1441 tgctgtcacg atcctcccca agaggatgtc cgtacgaggc ttcgaccgct acttctccag
     1501 ccgcacgctg gacaacaacc ggcgcaacat ctggtttgcc gagttctggg aggacaactt
     1561 ccactgcaag ctgagccgcc acgccctcaa gaagggcagc cacgtcaaga agtgcaccaa
     1621 ccgtgagcga attgggcagg attcagctta tgagcaggag gggaaggtgc agtttgtgat
     1681 cgatgccgtg tacgccatgg gccacgcgct gcacgccatg caccgtgacc tgtgtcccgg
     1741 ccgcgtgggg ctctgcccgc gcatggaccc tgtagatggc acccagctgc ttaagtacat
     1801 ccgaaacgtc aacttctcag gcatcgcagg gaaccctgtg accttcaatg agaatggaga
     1861 tgcgcctggg cgctatgaca tctaccaata ccagctgcgc aacgattctg ccgagtacaa
     1921 ggtcattggc tcctggactg accacctgca ccttagaata gagcggatgc actggccggg
     1981 gagcgggcag cagctgcccc gctccatctg cagcctgccc tgccaaccgg gtgagcggaa
     2041 gaagacagtg aagggcatgc cttgctgctg gcactgcgag ccttgcacag ggtaccagta
     2101 ccaggtggac cgctacacct gtaagacgtg tccctatgac atgcggccca cagagaaccg
     2161 cacgggctgc cggcccatcc ccatcatcaa gcttgagtgg ggctcgccct gggccgtgct
     2221 gcccctcttc ctggccgtgg tgggcatcgc tgccacgttg ttcgtggtga tcacctttgt
     2281 gcgctacaac gacacgccca tcgtcaaggc ctcgggccgt gaactgagct acgtgctgct
     2341 ggcaggcatc ttcctgtgct atgccaccac cttcctcatg atcgctgagc ccgaccttgg
     2401 cacctgctcg ctgcgccgaa tcttcctggg actagggatg agcatcagct atgcagccct
     2461 gctcaccaag accaaccgca tctaccgcat cttcgagcag ggcaagcgct cggtcagtgc
     2521 cccacgcttc atcagccccg cctcacagct ggccatcacc ttcagcctca tctcgctgca
     2581 gctgctgggc atctgtgtgt ggtttgtggt ggacccctcc cactcggtgg tggacttcca
     2641 ggaccagcgg acactcgacc cccgcttcgc caggggtgtg ctcaagtgtg acatctcgga
     2701 cctgtcgctc atctgcctgc tgggctacag catgctgctc atggtcacgt gcaccgtgta
     2761 tgccatcaag acacgcggcg tgcccgagac cttcaatgag gccaagccca ttggcttcac
     2821 catgtacacc acttgcatcg tctggctggc cttcatcccc atcttctttg gcacctcgca
     2881 gtcggccgac aagctgtaca tccagacgac gacgctgacg gtctcggtga gtctgagcgc
     2941 ctcggtgtcc ctgggaatgc tctacatgcc caaagtctac atcatcctct tccacccgga
     3001 gcagaacgtg cccaagcgca agcgcagcct caaagccgtc gttacggcgg ccaccatgtc
     3061 caacaagttc acgcagaagg gcaacttccg gcccaacgga gaggccaagt ctgagctctg
     3121 cgagaacctt gaggccccag cgctggccac caaacagact tacgtcactt acaccaacca
     3181 tgcaatctag cgagtccatg gagctgagca gcaggaggag gagccgtgac cctgtggaag
     3241 gtgcgtcggg ccagggccac acccaagggc ccagctgtct tgcctgcccg tgggcaccca
     3301 cggacgtggc ttggtgctga ggatagcaga gcccccagcc atcactgctg gcagcctggg
     3361 caaaccgggt gagcaacagg aggacgaggg gccggggcgg tgccaggcta ccacaagaac
     3421 ctgcgtcttg gaccattgcc cctcccggcc ccaaaccaca ggggctcagg tcgtgtgggc
     3481 cccagtgcta gatctctccc tcccttcgtc tctgtctgtg ctgttggcga cccctctgtc
     3541 tgtctccagc cctgtctttc tgttctctta tctctttgtt tcaccttttc cctctctggc
     3601 gtccccggct gcttgtactc ttggcctttt ctgtgtctcc tttctggctc ttgcctccgc
     3661 ctctctctct catcctcttt gtcctcagct cctcctgctt tcttgggtcc caccagtgtc
     3721 acttttctgc cgttttcttt cctgttctcc tctgcttcat tctcgtccag ccattgctcc
     3781 cctctccctg ccacccttcc ccagttcacc aaaccttaca tgttgcaaaa gagaaaaaag
     3841 gaaaaaaaat caaaacacaa aaaagccaaa acgaaaacaa atctcgagtg tgttgccaag
     3901 tgctgcgtcc tcctggtggc ctctgtgtgt gtccctgtgg cccgcagcct gcccgcctgc
     3961 cccgcccatc tgccgtgtgt cttgcccgcc tgccccgccc gtctgccgtc tgtcttgccc
     4021 gcctgcccgc ctgcccctcc tgccgaccac acggagttca gtgcctgggt gtttggtgat
     4081 ggttattgac gacaatgtgt agcgcatgat tgtttttata ccaagaacat ttctaataaa
     4141 aataaacaca tggttttgca cccgggctcc acatccactg agggtcctgc catgggacca
     4201 caggctcagc ctgcagctgg agggcttaga cctagaggga agcgggaact gggctctgga
     4261 gacccagggc ttgggggctg tggagactgc tccctaggct gggatctagt gtggtgtggt
     4321 gaggccttgg gcatggaggg gccagattcc caggtaaggg gcagggacat tgcaggaaat
     4381 tccaggaatc agcacctagt agtcccctaa ttagggggta tgctctgtcc cctgccctgc
     4441 agccctggga gggtaacatt tctgccttgc ctgtcctctg tctcacaccc ctcacacctg
     4501 ggactgccct tccacccctg cccccataac ctgtgcctct ctccttccag ccaggaagtc
     4561 ctcttcttga gaagttagct tcccgggctg ccagcactca tagccgtccc ctcctgcttg
     4621 tgttggctcc aggctcgggt gctaagaaga tgtgtgtctg tcctggagat cagtgtgttg
     4681 ttatgtgtcc acgtgggccc acaagtgcac ggcacaggca tggccgtgtg gctgtgttgg
     4741 ctgtgttggc tgtgtgtctg tgtgcacgtc cagcgcctcc atgcgcatgc gtgcctgtct
     4801 tgtttgcgtg tctgatcatc tgtttgggcc ccggtggctc atgcagatgc ctgtctcagg
     4861 cccatggcga gtgttcacct cagctggctt ccctggcagg ttgggaggtg ggaaacagga
     4921 gcgcttaggg gctgggctct ggctggggta aattatagag ccagaaacac aatgaggcca
     4981 taggcagcag ctggagcctg ggctgcctgt gccgtcccct cctgccctgc ccctgggtcc
     5041 tgcaccccct cccacctcca ggctagctga cagcgctatg gagcacagtg gaagggactg
     5101 gaggaaccct aggcaggggg ccacgcaggg acagagtatg agagtgtgtg tataactgag
     5161 gctgggacat tgaatcatgc caggtatgtc ttctccatca gcccactctt actcctggcc
     5221 tgggcatctc acacatctgt gcataggaaa tctcttcttc cctggggtct gtgtgcagca
     5281 cctagtagat gctcaataaa tgtttgtgtg agggaaggag acaggaaagg aagtgtctcg
     5341 ctgatcatct tgcggaatgg ttcctaagac ctctgcccag gaaagattcc acccagtgct
     5401 ccagcccggt caggcagaac taggttgcca gatcaagggt atctcccaaa agcttccagg
     5461 gcagttgggg gtgggggggt ggggggtagg gatggggaat gcagaagcgg gtgcagccag
     5521 ctctccccca gggtgactct ggcagcaccc ccatcctggg caccctgcct gctctgtggc
     5581 tcacgcccct cctgaagtga ctgatgctct gaggcccaag gctaggtcca gggcagggcc
     5641 tgcaggggtt tcatgctcag tccaggactt gcctaggtcc ccctacatct gtggggcccc
     5701 catctaggtt ctaacaggag aatcacctct ccaaggggga tgctgcccct cggctcccct
     5761 tggctctcag gaggggccct cagggactac cagtcccctg ccagtgggaa gaaatagccc
     5821 tgccctcagg gagcttccag tgtgatgggg gagatacagc agactgtgtc ccaaagtaaa
     5881 atgactgtta gaatgaggtg ggtggaggag ggaagccttg ggtgggtgtg actttgggca
     5941 tctgagcctg gggtgcagag gtgggctctg tgggcctgag gtggacagga gggaaccagg
     6001 ccctagcaag acttttgcca gctagacctg ctgcagcagt tgggagggtg ggtgctgctg
     6061 gagtcctggg tccatcacct agaaggctca ggccagtgca gccagggctg gggcccacag
     6121 ctggcctggg tgggacctgc cctgatgccc atggcaggag ggacgcctgg cccttcacaa
     6181 ttggcttggc tgctcacctt tgctctcatc ctcaattatt aatgactgga gaaagctgct
     6241 aagtatcttc agaatgttag atttcaacaa gatggggggt tcagggtccc tggcaccctg
     6301 gatagggagc cagcggcccc tagagacctt tgctgtgtgc agggggtatg tgctcacccc
     6361 cgtggcctca gcctcctcaa tgtctgaatg aaggattggg ctagcagaca tcccacccca
     6421 cagcacactt tctaaccagc aggggaactt ctagacaata gagacgctgg gctccctcca
     6481 gaacactgga cctgaacttc tggggggagg gctgggcacg ggcatatttt aaaagctccc
     6541 cagcagatgg gccgtgcagt caagtgggcc aagagtggca ccagactttg gggcttgtga
     6601 agtcaggagg gagcaacagt gcccactcga gcttgcctgg ggctcaagcc caaggctggg
     6661 ctgctgccag cctgagcaga cacccaggag cttccaggcc agctggatgc acagggcacc
     6721 tttgtggaac tcctaggacc ctggggagac ccacctcagg agcagagtct caggtccctt
     6781 ccggctctga ggggctgttc tgagctctaa tgtcttatgg tctgcccctc ccatccttac
     6841 ttctcaggcc ctggaggcag aggcatagag ccaggcagga cagaggtctc agtgggccac
     6901 atgccagctg cccccacact gcctcagcct ccaggcctcc aaggggtcct ggggagcccc
     6961 tgagaagatg ctgagcctgc ataaggctgg gcgcccctct ttctgacacc ctcactggct
     7021 ccacggctcc cccttcccat cccaggtttc catctgccca ctgaacaggg aggggaaact
     7081 gaggcactcc cctggcactg agggctcctt ctgtcatcct gcctgccctg gatggtcctg
     7141 gctgcccctc agggcttggc cctggcactg tgagcctcac agggctcaga cccccacccc
     7201 caacccagca ctaaatggca ctcggcacca gaatctcact tcagttggca aaagcagcaa
     7261 ttagcatgta atgaggcttc ttgctttatt tttaggtaac ctccaaggcc ctgcctgtgt
     7321 aattcagccc gccattgctc ggtggataat taaagcatgt caccataa
//
LOCUS       NM_000843               6025 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens glutamate metabotropic receptor 6 (GRM6), mRNA.
ACCESSION   NM_000843
VERSION     NM_000843.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6025)
  AUTHORS   Liu HY, Huang J, Xiao H, Zhang MJ, Shi FF, Jiang YH, Du H, He Q and
            Wang ZY.
  TITLE     Pseudodominant inheritance of autosomal recessive congenital
            stationary night blindness in one family with three co-segregating
            deleterious GRM6 variants identified by next-generation sequencing
  JOURNAL   Mol Genet Genomic Med 7 (12), e952 (2019)
   PUBMED   31677249
  REMARK    GeneRIF: Study reported a rare case of pseudodominantly inherited
            autosomal recessive congenital stationary night blindness in a
            family with three co-segregating deleterious variants (p.Arg621Ter,
            p.Gly51Val, and p.Gly464Arg) of GRM6.
REFERENCE   2  (bases 1 to 6025)
  AUTHORS   Tourville A, Michiels C, Condroyer C, Meunier A, Cordonnier M, Sahel
            JA, Audo I, Abramowicz M and Zeitz C.
  TITLE     Identification of a novel GRM6 mutation in a previously described
            consanguineous family with complete congenital stationary night
            blindness
  JOURNAL   Ophthalmic Genet 40 (2), 182-184 (2019)
   PUBMED   31063016
  REMARK    GeneRIF: We identified a novel homozygous missense mutation in exon
            8 of GRM6 (NM_000843.3).
REFERENCE   3  (bases 1 to 6025)
  AUTHORS   Eleftheriou CG, Cehajic-Kapetanovic J, Martial FP, Milosavljevic N,
            Bedford RA and Lucas RJ.
  TITLE     Meclofenamic acid improves the signal to noise ratio for visual
            responses produced by ectopic expression of human rod opsin
  JOURNAL   Mol Vis 23, 334-345 (2017)
   PUBMED   28659709
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6025)
  AUTHORS   Dan H, Song X, Li J, Xing Y and Li T.
  TITLE     Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese
            patients with Schubert-Bornschein congenital stationary night
            blindness
  JOURNAL   Ophthalmic Genet 38 (3), 206-210 (2017)
   PUBMED   27428514
REFERENCE   5  (bases 1 to 6025)
  AUTHORS   Wang H, Su S, Yang M, Hu N, Yao Y, Zhu R, Zhou J, Liang C and Guan
            H.
  TITLE     Association of ZNF644, GRM6, and CTNND2 genes with high myopia in
            the Han Chinese population: Jiangsu Eye Study
  JOURNAL   Eye (Lond) 30 (7), 1017-1022 (2016)
   PUBMED   27034204
  REMARK    GeneRIF: Our data suggested that genetic variants in GRM6 are
            associated with high myopia. The mechanism of GRM6 in the
            development of high myopia need to be further investigated.
REFERENCE   6  (bases 1 to 6025)
  AUTHORS   Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster
            U, Wycisk K, Matyas G, Hoyng CB, Riemslag F, Meire F, Cremers FP and
            Berger W.
  TITLE     Mutations in GRM6 cause autosomal recessive congenital stationary
            night blindness with a distinctive scotopic 15-Hz flicker
            electroretinogram
  JOURNAL   Invest Ophthalmol Vis Sci 46 (11), 4328-4335 (2005)
   PUBMED   16249515
  REMARK    GeneRIF: Affected individuals in three of five families carried
            either compound heterozygous or homozygous mutations in GRM6.
REFERENCE   7  (bases 1 to 6025)
  AUTHORS   Dryja TP, McGee TL, Berson EL, Fishman GA, Sandberg MA, Alexander
            KR, Derlacki DJ and Rajagopalan AS.
  TITLE     Night blindness and abnormal cone electroretinogram ON responses in
            patients with mutations in the GRM6 gene encoding mGluR6
  JOURNAL   Proc Natl Acad Sci U S A 102 (13), 4884-4889 (2005)
   PUBMED   15781871
REFERENCE   8  (bases 1 to 6025)
  AUTHORS   Valerio A, Ferraboli S, Paterlini M, Spano P and Barlati S.
  TITLE     Identification of novel alternatively-spliced mRNA isoforms of
            metabotropic glutamate receptor 6 gene in rat and human retina
  JOURNAL   Gene 262 (1-2), 99-106 (2001)
   PUBMED   11179672
REFERENCE   9  (bases 1 to 6025)
  AUTHORS   Dhingra A, Lyubarsky A, Jiang M, Pugh EN Jr, Birnbaumer L, Sterling
            P and Vardi N.
  TITLE     The light response of ON bipolar neurons requires G[alpha]o
  JOURNAL   J Neurosci 20 (24), 9053-9058 (2000)
   PUBMED   11124982
REFERENCE   10  (bases 1 to 6025)
  AUTHORS   Hashimoto T, Inazawa J, Okamoto N, Tagawa Y, Bessho Y, Honda Y and
            Nakanishi S.
  TITLE     The whole nucleotide sequence and chromosomal localization of the
            gene for human metabotropic glutamate receptor subtype 6
  JOURNAL   Eur J Neurosci 9 (6), 1226-1235 (1997)
   PUBMED   9215706
COMMENT     ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000517717.3/ ENSP00000430767.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104117.2, BY797310.2,
            BM726590.1, BY796285.2, BM681239.1, BX647168.1 and BM665594.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 5, 2018 this sequence version replaced NM_000843.3.
            Summary: L-glutamate is the major excitatory neurotransmitter in
            the central nervous system and activates both ionotropic and
            metabotropic glutamate receptors. Glutamatergic neurotransmission
            is involved in most aspects of normal brain function and can be
            perturbed in many neuropathologic conditions. The metabotropic
            glutamate receptors are a family of G protein-coupled receptors,
            that have been divided into 3 groups on the basis of sequence
            homology, putative signal transduction mechanisms, and
            pharmacologic properties. Group I includes GRM1 and GRM5 and these
            receptors have been shown to activate phospholipase C. Group II
            includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7
            and GRM8. Group II and III receptors are linked to the inhibition
            of the cyclic AMP cascade but differ in their agonist
            selectivities. Mutations in this gene result in congenital
            stationary night blindness type 1B. [provided by RefSeq, May 2018].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6025
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     gene            1..6025
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /note="glutamate metabotropic receptor 6"
                     /db_xref="GeneID:2916"
                     /db_xref="HGNC:HGNC:4598"
                     /db_xref="MIM:604096"
     misc_feature    23..25
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /note="upstream in-frame stop codon"
     CDS             62..2695
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /note="glutamate receptor, metabotropic 6"
                     /codon_start=1
                     /product="metabotropic glutamate receptor 6 precursor"
                     /protein_id="NP_000834.2"
                     /db_xref="CCDS:CCDS4442.1"
                     /db_xref="GeneID:2916"
                     /db_xref="HGNC:HGNC:4598"
                     /db_xref="MIM:604096"
                     /translation="MARPRRAREPLLVALLPLAWLAQAGLARAAGSVRLAGGLTLGGLF
                     PVHARGAAGRACGQLKKEQGVHRLEAMLYALDRVNADPELLPGVRLGARLLDTCSRDTY
                     ALEQALSFVQALIRGRGDGDEVGVRCPGGVPPLRPAPPERVVAVVGASASSVSIMVANV
                     LRLFAIPQISYASTAPELSDSTRYDFFSRVVPPDSYQAQAMVDIVRALGWNYVSTLASE
                     GNYGESGVEAFVQISREAGGVCIAQSIKIPREPKPGEFSKVIRRLMETPNARGIIIFAN
                     EDDIRRVLEAARQANLTGHFLWVGSDSWGAKTSPILSLEDVAVGAITILPKRASIDGFD
                     QYFMTRSLENNRRNIWFAEFWEENFNCKLTSSGTQSDDSTRKCTGEERIGRDSTYEQEG
                     KVQFVIDAVYAIAHALHSMHQALCPGHTGLCPAMEPTDGRMLLQYIRAVRFNGSAGTPV
                     MFNENGDAPGRYDIFQYQATNGSASSGGYQAVGQWAETLRLDVEALQWSGDPHEVPSSL
                     CSLPCGPGERKKMVKGVPCCWHCEACDGYRFQVDEFTCEACPGDMRPTPNHTGCRPTPV
                     VRLSWSSPWAAPPLLLAVLGIVATTTVVATFVRYNNTPIVRASGRELSYVLLTGIFLIY
                     AITFLMVAEPGAAVCAARRLFLGLGTTLSYSALLTKTNRIYRIFEQGKRSVTPPPFISP
                     TSQLVITFSLTSLQVVGMIAWLGARPPHSVIDYEEQRTVDPEQARGVLKCDMSDLSLIG
                     CLGYSLLLMVTCTVYAIKARGVPETFNEAKPIGFTMYTTCIIWLAFVPIFFGTAQSAEK
                     IYIQTTTLTVSLSLSASVSLGMLYVPKTYVILFHPEQNVQKRKRSLKATSTVAAPPKGE
                     DAEAHK"
     sig_peptide     62..133
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O15303.2)"
     mat_peptide     134..2692
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /product="Metabotropic glutamate receptor 6.
                     /id=PRO_0000012934"
                     /note="propagated from UniProtKB/Swiss-Prot (O15303.2)"
     misc_feature    947..949
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O15303.2); glycosylation site"
     misc_feature    1412..1414
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O15303.2); glycosylation site"
     misc_feature    1496..1498
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O15303.2); glycosylation site"
     misc_feature    1760..1762
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O15303.2); glycosylation site"
     misc_feature    1817..1885
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /note="propagated from UniProtKB/Swiss-Prot (O15303.2);
                     transmembrane region"
     misc_feature    1928..1990
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /note="propagated from UniProtKB/Swiss-Prot (O15303.2);
                     transmembrane region"
     misc_feature    2024..2080
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /note="propagated from UniProtKB/Swiss-Prot (O15303.2);
                     transmembrane region"
     misc_feature    2153..2215
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /note="propagated from UniProtKB/Swiss-Prot (O15303.2);
                     transmembrane region"
     misc_feature    2306..2371
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /note="propagated from UniProtKB/Swiss-Prot (O15303.2);
                     transmembrane region"
     misc_feature    2411..2479
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /note="propagated from UniProtKB/Swiss-Prot (O15303.2);
                     transmembrane region"
     misc_feature    2519..2596
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /note="propagated from UniProtKB/Swiss-Prot (O15303.2);
                     transmembrane region"
     misc_feature    2627..2692
                     /gene="GRM6"
                     /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6"
                     /note="propagated from UniProtKB/Swiss-Prot (O15303.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 cgcatctgtc acagacttgt cctgaaccga cagcggctgg cgcagcccgc tagacgagcc
       61 gatggcgcgg ccccggagag cccgggagcc gctgctcgtg gcgctgctgc cgctggcgtg
      121 gctggcgcag gcgggcctgg cgcgcgcggc gggctctgtg cgcctggcgg gcggcctgac
      181 gctgggcggc ctgttcccgg tgcacgcgcg gggcgcggcg ggccgggcgt gcgggcagct
      241 gaagaaggag cagggcgtgc accggctgga ggccatgctg tacgcgctgg accgcgtcaa
      301 cgccgacccc gagctgctgc ccggcgtgcg cctgggcgcg cggctgctgg acacctgctc
      361 gcgggacacc tacgcgctgg agcaggcgct gagcttcgtg caggcgctga tccgcggccg
      421 cggcgacggc gacgaggtgg gcgtgcgctg cccgggaggc gtccctccgc tgcgccccgc
      481 gccccccgag cgcgtcgtgg ccgtcgtggg cgcctcggcc agctccgtct ccatcatggt
      541 cgccaacgtg ctgcgcctgt ttgcgatacc ccagatcagc tatgcctcca cagccccgga
      601 gctcagcgac tccacacgct atgacttctt ctcccgggtg gtgccacccg actcctacca
      661 ggcgcaggcc atggtggaca tcgtgagggc actgggatgg aactatgtgt ccacgctggc
      721 ctccgagggc aactatggcg aaagtggggt tgaggccttc gttcagatct cccgagaggc
      781 tgggggggtc tgtattgccc agtctatcaa gattcccagg gaaccaaagc caggagagtt
      841 cagcaaggtg atcaggagac tcatggagac gcccaacgcc cggggcatca tcatctttgc
      901 caatgaggat gacatcaggc gggtcctgga ggcagctcgc caggccaacc tgaccggcca
      961 cttcctgtgg gtcggctcag acagctgggg agccaagacc tcacccatct tgagcctgga
     1021 ggacgtggcc gttggggcca tcaccatcct gcccaaaagg gcctccatcg acggatttga
     1081 ccagtacttc atgactcgat ccctggagaa caaccgcagg aacatctggt tcgccgagtt
     1141 ctgggaagag aattttaact gcaaactgac cagctcaggt acccagtcag acgattccac
     1201 ccgcaaatgc acaggcgagg aacgcatcgg ccgggactcc acctacgagc aggagggcaa
     1261 ggtgcagttt gtgattgatg cggtgtacgc cattgcccac gccctccaca gcatgcacca
     1321 ggcgctctgc cctgggcaca caggcctgtg cccggcgatg gaacccactg atgggcggat
     1381 gcttctgcag tacattcgag ctgtccgctt caatggcagc gcaggaaccc ctgtgatgtt
     1441 caacgagaac ggagatgcgc ccgggcggta cgacatcttc cagtaccagg cgaccaatgg
     1501 cagtgccagc agtggcgggt accaggcagt gggccagtgg gcagagaccc tcagactgga
     1561 tgtggaggcc ctgcagtggt ctggcgaccc ccacgaggtg ccctcgtctc tgtgcagcct
     1621 gccctgcggg ccgggggagc ggaagaagat ggtgaagggc gtcccctgct gttggcactg
     1681 cgaggcctgt gacgggtacc gcttccaggt ggacgagttc acatgcgagg cctgtcctgg
     1741 ggacatgagg cccacgccca accacacggg ctgccgcccc acacctgtgg tgcgcctgag
     1801 ctggtcctcc ccctgggcag ccccgccgct cctcctggcc gtgctgggca tcgtggccac
     1861 taccacggtg gtggccacct tcgtgcggta caacaacacg cccatcgtcc gggcctcggg
     1921 ccgagagctc agctacgtcc tcctcaccgg catcttcctc atctacgcca tcaccttcct
     1981 catggtggct gagcctgggg ccgcggtctg tgccgcccgc aggctcttcc tgggcctggg
     2041 cacgaccctc agctactctg ccctgctcac caagaccaac cgtatctacc gcatctttga
     2101 gcagggcaag cgctcggtca caccccctcc cttcatcagc cccacctcac agctggtcat
     2161 caccttcagc ctcacctccc tgcaggtggt ggggatgata gcatggctgg gggcccggcc
     2221 cccacacagc gtgattgact atgaggaaca gcggacggtg gaccccgagc aggccagagg
     2281 ggtgctcaag tgcgacatgt cggatctgtc tctcatcggc tgcctgggct acagcctcct
     2341 gctcatggtc acgtgcacag tgtacgccat caaggcccgt ggcgtgcccg agaccttcaa
     2401 cgaggccaag cccatcggct tcaccatgta caccacctgc atcatctggc tggcattcgt
     2461 gcccatcttc tttggcactg cccagtcagc tgaaaagatc tacatccaga caaccacgct
     2521 aaccgtgtcc ttgagcctga gtgcctcggt gtccctcggc atgctctacg tacccaaaac
     2581 ctacgtcatc ctcttccatc cagagcagaa tgtgcagaag cgaaagcgga gcctcaaggc
     2641 cacctccacg gtggcagccc cacccaaggg cgaggatgca gaggcccaca agtagcaggg
     2701 caggtgggaa cgggactgct tgctgcctct cctttcttcc tcttgcctcg aggtggaagc
     2761 tgtatagagc ccgggtccac ggtgaacagt cagtggcagg gagtttgcca agaccatgct
     2821 ccgcgtcggt ggggctggcc ttgagaagga actggaccca gctctacccc gattccagca
     2881 tgtgagcttc atgcttcctc accacagacc agactcgctt cccatggtgg gaaacagcca
     2941 ccgagaaggt tctagctcta gaaagggact aaacttattc tctcatccga agtccaaaga
     3001 ggatgatgaa gccctgggct ttgcctggtt tgcgggagat ttcctcccct cagtcaaccc
     3061 ccataacctg gggattgggc agtgtggaag aacgtgtaga ccccagaatg aaacatgggg
     3121 ttggagtgga ggaggagctg tctcagcaag aggagacctg gggctgtgca tctggatgga
     3181 ggcactcagg cctgggtagg attcctctgg cacggaggga gagaccctgg gtgagacccc
     3241 tgtgagcatg ggaagggcct gcagtgggcg cgggagtgag ctgaggaact ggggtgcgcc
     3301 cccatgagat tcccaatgcc atgggctttc ccccatcccc ccgggattgg gcaaggtcag
     3361 acttagagta cagctgtttt cctcccctct gtgtactccc ttaaatcacc ccaaccttgg
     3421 ccaggcatgg tggctcacac ctgtaatccc agcactttgg gaggccgagg caggtggatc
     3481 acctgaggtc cggagttcga gaccagcctg gccaatgtgg tgaaaccctg tctctactaa
     3541 aaatacaaaa attagccagg tgtgatggtg ggtgcctgta atcccagtta cttgggaggc
     3601 tgaggcagga gaatcgcttg aacctgggag gtggaggttg cagtgagctg tgattgtgcc
     3661 actgtactcc agcctgggtg acagagcgag actctgtctc aaaaaaacaa aacaaaaaaa
     3721 caccaaaaaa acccccaaac ctgaagaaat tcagatacac gtgtgtaatg ttagtgatgt
     3781 gagaacaagg agcaggggtg catttgtgtt gtgttcgggt tggggatggg tttaggagct
     3841 ccaggttggg agcagtgaca gagagtcatg gccgtggtga gggtgaatcc caagtggatg
     3901 gctcaggacg ggtatggaaa cccttcattc ctcataggta ctgggaagtc catttgcaag
     3961 ctgagcgcca ggcctgggga ggaagaggct tgggctgcag atgcacgcac atttgttttt
     4021 cactgatagt ttttacaaaa agcttggttt aagttatgga gttttatgtc cctgggagta
     4081 gaatttacat ttgttaaatt gaccactgtt taagatcagt atacattctc tagtctgtga
     4141 tgtctggagc tagttttgag ggtgaaccac actttatcca acatacaaac tttcccatgc
     4201 agcttctctg gtgcgcagtt ggttttgacc gtgggactag gtgcttctgc aggttttaag
     4261 taattaactt aaaagcttct cctctgagaa acatttctgt tgcgctactg actctccttc
     4321 tccacatttg ttgtgttcct agggcttctc tatagtgcac attaggacgt ttcatttgtt
     4381 gctgaatgct ttccagaatt atttattcca tagggtttct ctcctgtgca gctctctcat
     4441 gggtaatggg gcgtgttttc ttgccaaagg cggttccacc ctcgtgattg tatagggctc
     4501 ttctcctgta tgaactctga gatcagtgag ctctgatctc caagggaaag ttttcctgca
     4561 tttgctgttt tctcatgtct ctcccagtgt gaattctttg gtgtgcagtg cgctctggct
     4621 tctagctgaa aacttttcca cagttttaca ttcatgtggt tttctccact gtgaactctg
     4681 tgattcagaa tcagaagcag ttcttagtag aggcatttct acactgattg cactgaggat
     4741 ttctccccag tgtgaagttt ctggcataga gtcctggctt cccgcagacg actttcacac
     4801 tctgccatgt tcatgcctgt gggcctctct ggcaggaact ctgatgcacc gcgaggccca
     4861 tgtactcctg tggctttctc acattcggtc tacttgcagg gtatctccac agcatgcacc
     4921 attctgggta cagggggaca tcctctgtta ctgaagatgt tgtcatattt agtaccttca
     4981 caaggtttct ctccttccag aattttctga tgtacacaaa taactgactt ccacaagagg
     5041 gcttttccac actcggtgtg tgcatacagt ttctgcctgt gatcatttct ttatgttatt
     5101 attttatttt ttcgagatag ggtcttgctc aatttcttag gctggagtgc agtggcacga
     5161 tcatagctca ctgaagtttc gacctgggct caagcaatcc tcccgcttca gcctcctgag
     5221 tagctggtgc gcacgaccat acccagctaa tgttttattt tttgtagaga cgaggtctca
     5281 ctatgttgcc caggctggtc tcgaacttct gagctcgagc gatcctcctg cctccacctc
     5341 ccaaagtgtt cggattacaa acgtgagcca tcgcacctag cctctttgat catttctgtg
     5401 gtgttcagtg gaggttgaca gctccctaaa gattttcctg tttttttgca tgcatgggtt
     5461 tgaattcttt gaggtccaat ttatttggac ccctgaataa agttttgtgg gttttcttct
     5521 atgtgtggaa tttataaggc attcttccag tgtggtttct cttatgtcga gtgagagctg
     5581 acctgcaccg aaggttttgt cccatttgtt gcccttgaat tatttgtatg aattatatgt
     5641 tccagtgaaa atggagttct gggttggagg cttattccat gtttacacaa ttaaaattgc
     5701 agtgttcctc tctgggatga gagctctaaa gcagagtaag attacgttct gatgtaagct
     5761 ttaaccacct atttataagg tctcacctgt ggtccactgt gttgagactt ctacagaaga
     5821 gcttctgtat agtaaccatt ttcttaggct gtctcacttg tgtgaatctt ctgacacatt
     5881 tattatagct ttgtcccatt tcttatcctt tttgctcttt agaaatttcc ctttaattta
     5941 ttacattcat tgcttactgt aaagagtcca ggtaactgac tttattcagt tacttcctgt
     6001 tcaataaatt taacttttcc caaaa
//
LOCUS       NM_000844               4149 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens glutamate metabotropic receptor 7 (GRM7), transcript
            variant 1, mRNA.
ACCESSION   NM_000844
VERSION     NM_000844.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4149)
  AUTHORS   Freitas GA and Niswender CM.
  TITLE     GRM7 gene mutations and consequences for neurodevelopment
  JOURNAL   Pharmacol Biochem Behav 225, 173546 (2023)
   PUBMED   37003303
  REMARK    GeneRIF: GRM7 gene mutations and consequences for neurodevelopment.
            Review article
REFERENCE   2  (bases 1 to 4149)
  AUTHORS   Wang L, Tang X, Liang P, Zhou C, Sun Y and Liang Y.
  TITLE     Correlation between variants of the CREB1 and GRM7 genes and risk of
            depression
  JOURNAL   BMC Psychiatry 23 (1), 3 (2023)
   PUBMED   36597080
  REMARK    GeneRIF: Correlation between variants of the CREB1 and GRM7 genes
            and risk of depression. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4149)
  AUTHORS   Jdila MB, Mignon-Ravix C, Ncir SB, Kammoun F, Fakhfakh F, Villard L
            and Triki C.
  TITLE     A large consanguineous family with a homozygous Metabotropic
            Glutamate Receptor 7 (mGlu7) variant and developmental epileptic
            encephalopathy: Effect on protein structure and ligand affinity
  JOURNAL   Orphanet J Rare Dis 16 (1), 317 (2021)
   PUBMED   34273994
  REMARK    GeneRIF: A large consanguineous family with a homozygous
            Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental
            epileptic encephalopathy: Effect on protein structure and ligand
            affinity. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4149)
  AUTHORS   Du J, Wang D, Fan H, Xu C, Tai L, Lin S, Han S, Tan Q, Wang X, Xu T,
            Zhang H, Chu X, Yi C, Liu P, Wang X, Zhou Y, Pin JP, Rondard P, Liu
            H, Liu J, Sun F, Wu B and Zhao Q.
  TITLE     Structures of human mGlu2 and mGlu7 homo- and heterodimers
  JOURNAL   Nature 594 (7864), 589-593 (2021)
   PUBMED   34135509
  REMARK    GeneRIF: Structures of human mGlu2 and mGlu7 homo- and heterodimers.
REFERENCE   5  (bases 1 to 4149)
  AUTHORS   Schulz HL, Stohr H and Weber BH.
  TITLE     Characterization of three novel isoforms of the metabotrobic
            glutamate receptor 7 (GRM7)
  JOURNAL   Neurosci Lett 326 (1), 37-40 (2002)
   PUBMED   12052533
  REMARK    GeneRIF: Identified additional splicing variants involving the 3'
            end of the GRM7 coding sequence and resulting in three putative
            novel isoforms.
REFERENCE   6  (bases 1 to 4149)
  AUTHORS   Nakajima Y, Yamamoto T, Nakayama T and Nakanishi S.
  TITLE     A relationship between protein kinase C phosphorylation and
            calmodulin binding to the metabotropic glutamate receptor subtype 7
  JOURNAL   J Biol Chem 274 (39), 27573-27577 (1999)
   PUBMED   10488094
REFERENCE   7  (bases 1 to 4149)
  AUTHORS   Phillips T, Makoff A, Murrison E, Mimmack M, Waldvogel H, Faull R,
            Rees S and Emson P.
  TITLE     Immunohistochemical localisation of mGluR7 protein in the rodent and
            human cerebellar cortex using subtype specific antibodies
  JOURNAL   Brain Res Mol Brain Res 57 (1), 132-141 (1998)
   PUBMED   9630572
REFERENCE   8  (bases 1 to 4149)
  AUTHORS   Wu S, Wright RA, Rockey PK, Burgett SG, Arnold JS, Rosteck PR Jr,
            Johnson BG, Schoepp DD and Belagaje RM.
  TITLE     Group III human metabotropic glutamate receptors 4, 7 and 8:
            molecular cloning, functional expression, and comparison of
            pharmacological properties in RGT cells
  JOURNAL   Brain Res Mol Brain Res 53 (1-2), 88-97 (1998)
   PUBMED   9473604
REFERENCE   9  (bases 1 to 4149)
  AUTHORS   Flor PJ, Van Der Putten H, Ruegg D, Lukic S, Leonhardt T, Bence M,
            Sansig G, Knopfel T and Kuhn R.
  TITLE     A novel splice variant of a metabotropic glutamate receptor, human
            mGluR7b
  JOURNAL   Neuropharmacology 36 (2), 153-159 (1997)
   PUBMED   9144652
REFERENCE   10  (bases 1 to 4149)
  AUTHORS   Makoff A, Pilling C, Harrington K and Emson P.
  TITLE     Human metabotropic glutamate receptor type 7: molecular cloning and
            mRNA distribution in the CNS
  JOURNAL   Brain Res Mol Brain Res 40 (1), 165-170 (1996)
   PUBMED   8840028
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK312488.1, SRR1660805.22489.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000357716.9/ ENSP00000350348.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312488.1, X94552.1,
            AB209214.1, AK123326.1 and AC077690.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000844.3.
            Summary: L-glutamate is the major excitatory neurotransmitter in
            the central nervous system, and it activates both ionotropic and
            metabotropic glutamate receptors. Glutamatergic neurotransmission
            is involved in most aspects of normal brain function and can be
            perturbed in many neuropathologic conditions. The metabotropic
            glutamate receptors are a family of G protein-coupled receptors
            that have been divided into three groups on the basis of sequence
            homology, putative signal transduction mechanisms, and
            pharmacologic properties. Group I includes GRM1 and GRM5, and these
            receptors have been shown to activate phospholipase C. Group II
            includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7
            and GRM8. Group II and III receptors are linked to the inhibition
            of the cyclic AMP cascade but differ in their agonist
            selectivities. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jun
            2009].
            Transcript Variant: This variant (1, also known as hmGluR7a)
            encodes the predominant isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4149
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p26.1"
     gene            1..4149
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="glutamate metabotropic receptor 7"
                     /db_xref="GeneID:2917"
                     /db_xref="HGNC:HGNC:4599"
                     /db_xref="MIM:604101"
     misc_feature    38..40
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="upstream in-frame stop codon"
     CDS             275..3022
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="isoform a precursor is encoded by transcript variant
                     1; metabotropic glutamate receptor 7; protein phosphatase
                     1, regulatory subunit 87; glutamate receptor, metabotropic
                     7"
                     /codon_start=1
                     /product="metabotropic glutamate receptor 7 isoform a
                     precursor"
                     /protein_id="NP_000835.1"
                     /db_xref="CCDS:CCDS43042.1"
                     /db_xref="GeneID:2917"
                     /db_xref="HGNC:HGNC:4599"
                     /db_xref="MIM:604101"
                     /translation="MVQLRKLLRVLTLMKFPCCVLEVLLCALAAAARGQEMYAPHSIRI
                     EGDVTLGGLFPVHAKGPSGVPCGDIKRENGIHRLEAMLYALDQINSDPNLLPNVTLGAR
                     ILDTCSRDTYALEQSLTFVQALIQKDTSDVRCTNGEPPVFVKPEKVVGVIGASGSSVSI
                     MVANILRLFQIPQISYASTAPELSDDRRYDFFSRVVPPDSFQAQAMVDIVKALGWNYVS
                     TLASEGSYGEKGVESFTQISKEAGGLCIAQSVRIPQERKDRTIDFDRIIKQLLDTPNSR
                     AVVIFANDEDIKQILAAAKRADQVGHFLWVGSDSWGSKINPLHQHEDIAEGAITIQPKR
                     ATVEGFDAYFTSRTLENNRRNVWFAEYWEENFNCKLTISGSKKEDTDRKCTGQERIGKD
                     SNYEQEGKVQFVIDAVYAMAHALHHMNKDLCADYRGVCPEMEQAGGKKLLKYIRNVNFN
                     GSAGTPVMFNKNGDAPGRYDIFQYQTTNTSNPGYRLIGQWTDELQLNIEDMQWGKGVRE
                     IPASVCTLPCKPGQRKKTQKGTPCCWTCEPCDGYQYQFDEMTCQHCPYDQRPNENRTGC
                     QDIPIIKLEWHSPWAVIPVFLAMLGIIATIFVMATFIRYNDTPIVRASGRELSYVLLTG
                     IFLCYIITFLMIAKPDVAVCSFRRVFLGLGMCISYAALLTKTNRIYRIFEQGKKSVTAP
                     RLISPTSQLAITSSLISVQLLGVFIWFGVDPPNIIIDYDEHKTMNPEQARGVLKCDITD
                     LQIICSLGYSILLMVTCTVYAIKTRGVPENFNEAKPIGFTMYTTCIVWLAFIPIFFGTA
                     QSAEKLYIQTTTLTISMNLSASVALGMLYMPKVYIIIFHPELNVQKRKRSFKAVVTAAT
                     MSSRLSHKPSDRPNGEAKTELCENVDPNSPAAKKKYVSYNNLVI"
     sig_peptide     275..376
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     377..3019
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /product="metabotropic glutamate receptor 7 isoform a"
     misc_feature    566..568
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14831.1); glycosylation site"
     misc_feature    1646..1648
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14831.1); glycosylation site"
     misc_feature    1730..1732
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14831.1); glycosylation site"
     misc_feature    1988..1990
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14831.1); glycosylation site"
     misc_feature    2045..2119
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14831.1);
                     transmembrane region"
     misc_feature    2156..2218
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14831.1);
                     transmembrane region"
     misc_feature    2237..2299
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14831.1);
                     transmembrane region"
     misc_feature    2381..2443
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14831.1);
                     transmembrane region"
     misc_feature    2534..2599
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14831.1);
                     transmembrane region"
     misc_feature    2639..2704
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14831.1);
                     transmembrane region"
     misc_feature    2750..2824
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14831.1);
                     transmembrane region"
     misc_feature    2894..2959
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14831.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2972..2974
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68ED2; propagated from
                     UniProtKB/Swiss-Prot (Q14831.1); phosphorylation site"
     regulatory      4123..4128
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="hexamer: AATAAA"
     polyA_site      4149
                     /gene="GRM7"
                     /gene_synonym="GLUR7; GPRC1G; MGLU7; MGLUR7; NEDSHBA;
                     PPP1R87"
                     /note="major polyA site"
ORIGIN
        1 agtgctgggc tgttggagag agcgagcagc aagccggtga gcgcgagcgc ggcgcgccgg
       61 ccggctaacc cgagagcgcg aggcgcccca ggctggcagg cgccgcggga cccctcaccc
      121 tctctggtcg cccctccccg gattccccca ccctccgtgc ctgcaggagc ccctgggctt
      181 tcccggagga gctcgccctg aagggcccgg acctcggcga gcccaccacc gttccctcca
      241 gcgccgccgc cgccaccgca gcagccggag cagcatggtc cagctgagga agctgctccg
      301 cgtcctgact ttgatgaagt tcccctgctg cgtgctggag gtgctcctgt gcgcgctggc
      361 ggcggcggcg cgcggccagg agatgtacgc cccgcactca atccggatcg agggggacgt
      421 caccctcggg gggctgttcc ccgtgcacgc caagggtccc agcggagtgc cctgcggcga
      481 catcaagagg gaaaacggga tccacaggct ggaagcgatg ctctacgccc tggaccagat
      541 caacagtgat cccaacctac tgcccaacgt gacgctgggc gcgcggatcc tggacacttg
      601 ttccagggac acttacgcgc tcgaacagtc gcttactttc gtccaggcgc tcatccagaa
      661 ggacacctcc gacgtgcgct gcaccaacgg cgaaccgccg gttttcgtca agccggagaa
      721 agtagttgga gtgattgggg cttcggggag ttcggtctcc atcatggtag ccaacatcct
      781 gaggctcttc cagatccccc agattagtta tgcatcaacg gcacccgagc taagtgatga
      841 ccggcgctat gacttcttct ctcgcgtggt gccacccgat tccttccaag cccaggccat
      901 ggtagacatt gtaaaggccc taggctggaa ttatgtgtct accctcgcat cggaaggaag
      961 ttatggagag aaaggtgtgg agtccttcac gcagatttcc aaagaggcag gtggactctg
     1021 cattgcccag tccgtgagaa tcccccagga acgcaaagac aggaccattg actttgatag
     1081 aattatcaaa cagctcctgg acacccccaa ctccagggcc gtcgtgattt ttgccaacga
     1141 tgaggatata aagcagatcc ttgcagcagc caaaagagct gaccaagttg gccattttct
     1201 ttgggtggga tcagacagct ggggatccaa aataaaccca ctgcaccagc atgaagatat
     1261 cgcagaaggg gccatcacca ttcagcccaa gcgagccacg gtggaagggt ttgatgccta
     1321 ctttacgtcc cgtacacttg aaaacaacag aagaaatgta tggtttgccg aatactggga
     1381 ggaaaacttc aactgcaagt tgacgattag tgggtcaaaa aaagaagaca cagatcgcaa
     1441 atgcacagga caggagagaa ttggaaaaga ttccaactat gagcaggagg gtaaagtcca
     1501 gttcgtgatt gacgcagtct atgctatggc tcacgccctt caccacatga acaaggatct
     1561 ctgtgctgac taccggggtg tctgcccaga gatggagcaa gctggaggca agaagttgct
     1621 gaagtatata cgcaatgtta atttcaatgg tagtgctggc actccagtga tgtttaacaa
     1681 gaacggggat gcacctgggc gttatgacat ctttcagtac cagaccacaa acaccagcaa
     1741 cccgggttac cgtctgatcg ggcagtggac agacgaactt cagctcaata tagaagacat
     1801 gcagtggggt aaaggagtcc gagagatacc cgcctcagtg tgcacactac catgtaagcc
     1861 aggacagaga aagaagacac agaaaggaac tccttgctgt tggacctgtg agccttgcga
     1921 tggttaccag taccagtttg atgagatgac atgccagcat tgcccctatg accagaggcc
     1981 caatgaaaat cgaaccggat gccaggatat tcccatcatc aaactggagt ggcactcccc
     2041 ctgggctgtg attcctgtct tcctggcaat gttggggatc attgccacca tctttgtcat
     2101 ggccactttc atccgctaca atgacacgcc cattgtccgg gcatctgggc gggaactcag
     2161 ctatgttctt ttgacgggca tctttctttg ctacatcatc actttcctga tgattgccaa
     2221 accagatgtg gcagtgtgtt ctttccggcg agttttcttg ggcttgggta tgtgcatcag
     2281 ttatgcagcc ctcttgacga aaacaaatcg gatttatcgc atatttgagc agggcaagaa
     2341 atcagtaaca gctcccagac tcataagccc aacatcacaa ctggcaatca cttccagttt
     2401 aatatcagtt cagcttctag gggtgttcat ttggtttggt gttgatccac ccaacatcat
     2461 catagactat gatgaacaca agacaatgaa ccctgagcaa gccagagggg ttctcaagtg
     2521 tgacattaca gatctccaaa tcatttgctc cttgggatat agcattcttc tcatggtcac
     2581 atgtactgtg tatgccatca agactcgggg tgtacccgag aattttaacg aagccaagcc
     2641 cattggattc actatgtaca cgacatgtat agtatggctt gccttcattc caattttttt
     2701 tggcaccgct caatcagcgg aaaagctcta catacaaact accacgctta caatctccat
     2761 gaacctaagt gcatcagtgg cgctggggat gctatacatg ccgaaagtgt acatcatcat
     2821 tttccaccct gaactcaatg tccagaaacg gaagcgaagc ttcaaggcgg tagtcacagc
     2881 agccaccatg tcatcgaggc tgtcacacaa acccagtgac agacccaacg gtgaggcaaa
     2941 gaccgagctc tgtgaaaacg tagacccaaa cagccctgct gcaaaaaaga agtatgtcag
     3001 ttataataac ctggttatct aacctgttcc attccatgga accatggagg aggaagaccc
     3061 tcagttattt tgtcacccaa cctggcatag gactctttgg tcctacccgc ttcccatcac
     3121 cggaggagct tccccggccg ggagaccagt gttagaggat ccaagcgacc taaacagctg
     3181 ctttatgaaa tatccttact ttatctgggc ttaataagtc actgacatca gcactgccaa
     3241 ctcggctgca attgtggacc ttccctacca aagggagtgt tgaaactcaa gtcccgccct
     3301 ggctctttag aatggaccac tgagagccac aggaccgttt tggggctgac ctgtcttatt
     3361 acgtatgtac ttctaggttg caaggttttg aaattttctg tacagtttgt gaggaccttt
     3421 gcactttgcc atctgatgtc gtacctcggt tcactgtttg ttttcgaatg ccttgttttc
     3481 atagagccct attctctcag acggtggaat atttggaaaa attttaaaac aattaaaatt
     3541 ttaaagcaat cttggcagac taaaacaagt acatctgtac atgactgtat aattacgatt
     3601 atagtaccac tgcacatcat gttttttttt ttaagacaaa aaagatgttt aaagaccaaa
     3661 aactgtgctg agaaagtatg ccccacctat ctttggtata tgataggtta cataaaagga
     3721 aggtattggc tgaactgaat agaggtcttg atctttggaa tgcatgccag taatgtattt
     3781 tacagtacat gtttattatg ttcaatattt gtatttgtgt tctcttttgt tatttttaat
     3841 tagggtatat gaatattttg caataatttt aataattatt aagctgtttg aaggaaagaa
     3901 tatggatttt tcatgtcttg aggttttgtt catgccccct ttgactgatc agtgtgataa
     3961 ggactttagg aaaaaaagca tgtatgtttt ttactgtttg taataagtac tttcgttaat
     4021 cttgctgctt atgtgccaat ttagtggaaa aaaacaaccc ttgctgaaaa attccctctt
     4081 tccattctct ttcaattctg tgatattgtc caagaatgta tcaataaaat actttggtta
     4141 actttttta
//
LOCUS       NM_000845               3704 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens glutamate metabotropic receptor 8 (GRM8), transcript
            variant 1, mRNA.
ACCESSION   NM_000845
VERSION     NM_000845.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3704)
  AUTHORS   Zhang Q, Chen X, Li S, Yao T and Wu J.
  TITLE     Association between the group III metabotropic glutamate receptor
            gene polymorphisms and attention-deficit/hyperactivity disorder and
            functional exploration of risk loci
  JOURNAL   J Psychiatr Res 132, 65-71 (2021)
   PUBMED   33068816
  REMARK    GeneRIF: Association between the group III metabotropic glutamate
            receptor gene polymorphisms and attention-deficit/hyperactivity
            disorder and functional exploration of risk loci.
REFERENCE   2  (bases 1 to 3704)
  AUTHORS   Bauer LO and Covault JM.
  TITLE     GRM8 genotype is associated with externalizing disorders and greater
            inter-trial variability in brain activation during a response
            inhibition task
  JOURNAL   Clin Neurophysiol 131 (6), 1180-1186 (2020)
   PUBMED   32299001
  REMARK    GeneRIF: GRM8 genotype is associated with externalizing disorders
            and greater inter-trial variability in brain activation during a
            response inhibition task.
REFERENCE   3  (bases 1 to 3704)
  AUTHORS   Zhang P, Kang B, Xie G, Li S, Gu Y, Shen Y, Zhao X, Ma Y, Li F, Si
            J, Wang J, Chen J, Yang H, Xu X and Yang Y.
  TITLE     Genomic sequencing and editing revealed the GRM8 signaling pathway
            as potential therapeutic targets of squamous cell lung cancer
  JOURNAL   Cancer Lett 442, 53-67 (2019)
   PUBMED   30391781
  REMARK    GeneRIF: Transcriptional activation of GRM8 lung squamous cell
            carcinoma tumor cells induced cell proliferation by inhibiting cAMP
            pathway and activating MAPK pathway.
REFERENCE   4  (bases 1 to 3704)
  AUTHORS   Tavakkoly-Bazzaz J, Azarnezhad A, Mousavi N, Salehipour P,
            Shahsavand Ananloo E and Alizadeh F.
  TITLE     TCF4 and GRM8 gene polymorphisms and risk of schizophrenia in an
            Iranian population: a case-control study
  JOURNAL   Mol Biol Rep 45 (6), 2403-2409 (2018)
   PUBMED   30288643
  REMARK    GeneRIF: rs712723 in GRM8 was selected for genotyping. The allele C
            and genotype CC (allele C: OR 1.48, 95% CI 1.13-1.94; genotype CC:
            OR 1.71, 95% CI 1.09-2.68) of rs712723 polymorphism was found to
            have a significant association with risk of schizophrenia while
            allele T (P = 0.003) and genotype TT (P = 0.028) frequencies were
            found lower in control patients.
REFERENCE   5  (bases 1 to 3704)
  AUTHORS   Malone SM, McGue M and Iacono WG.
  TITLE     What can time-frequency and phase coherence measures tell us about
            the genetic basis of P3 amplitude?
  JOURNAL   Int J Psychophysiol 115, 40-56 (2017)
   PUBMED   27871913
  REMARK    GeneRIF: This study showed that GRM8 was nominally associated (p <
            0.05) with both delta measures (energy and intertrial phase
            coherence).
REFERENCE   6  (bases 1 to 3704)
  AUTHORS   Thomas NK, Wright RA, Howson PA, Kingston AE, Schoepp DD and Jane
            DE.
  TITLE     (S)-3,4-DCPG, a potent and selective mGlu8a receptor agonist,
            activates metabotropic glutamate receptors on primary afferent
            terminals in the neonatal rat spinal cord
  JOURNAL   Neuropharmacology 40 (3), 311-318 (2001)
   PUBMED   11166323
REFERENCE   7  (bases 1 to 3704)
  AUTHORS   Malherbe P, Kratzeisen C, Lundstrom K, Richards JG, Faull RL and
            Mutel V.
  TITLE     Cloning and functional expression of alternative spliced variants of
            the human metabotropic glutamate receptor 8
  JOURNAL   Brain Res Mol Brain Res 67 (2), 201-210 (1999)
   PUBMED   10216218
REFERENCE   8  (bases 1 to 3704)
  AUTHORS   Wu S, Wright RA, Rockey PK, Burgett SG, Arnold JS, Rosteck PR Jr,
            Johnson BG, Schoepp DD and Belagaje RM.
  TITLE     Group III human metabotropic glutamate receptors 4, 7 and 8:
            molecular cloning, functional expression, and comparison of
            pharmacological properties in RGT cells
  JOURNAL   Brain Res Mol Brain Res 53 (1-2), 88-97 (1998)
   PUBMED   9473604
REFERENCE   9  (bases 1 to 3704)
  AUTHORS   Scherer SW, Soder S, Duvoisin RM, Huizenga JJ and Tsui LC.
  TITLE     The human metabotropic glutamate receptor 8 (GRM8) gene: a
            disproportionately large gene located at 7q31.3-q32.1
  JOURNAL   Genomics 44 (2), 232-236 (1997)
   PUBMED   9299241
REFERENCE   10  (bases 1 to 3704)
  AUTHORS   Scherer SW, Duvoisin RM, Kuhn R, Heng HH, Belloni E and Tsui LC.
  TITLE     Localization of two metabotropic glutamate receptor genes, GRM3 and
            GRM8, to human chromosome 7q
  JOURNAL   Genomics 31 (2), 230-233 (1996)
   PUBMED   8824806
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.303239.1,
            SRR1660809.212287.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000339582.7/ ENSP00000344173.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC002424.1, AC000099.1,
            AC000363.2, AC000367.1, AC002533.1, AC002083.2, AC002057.1,
            AC000369.1 and AC000370.1.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Jun 27, 2019 this sequence version replaced
            XM_011516091.2, NM_000845.2.
            Summary: L-glutamate is the major excitatory neurotransmitter in
            the central nervous system and activates both ionotropic and
            metabotropic glutamate receptors. Glutamatergic neurotransmission
            is involved in most aspects of normal brain function and can be
            perturbed in many neuropathologic conditions. The metabotropic
            glutamate receptors are a family of G protein-coupled receptors,
            that have been divided into 3 groups on the basis of sequence
            homology, putative signal transduction mechanisms, and
            pharmacologic properties. Group I includes GRM1 and GRM5 and these
            receptors have been shown to activate phospholipase C. Group II
            includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7
            and GRM8. Group II and III receptors are linked to the inhibition
            of the cyclic AMP cascade but differ in their agonist
            selectivities. Alternatively spliced transcript variants encoding
            different isoforms have been described for this gene. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1), as well as variants 4 and 5,
            encodes isoform a.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3704
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.33"
     gene            1..3704
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="glutamate metabotropic receptor 8"
                     /db_xref="GeneID:2918"
                     /db_xref="HGNC:HGNC:4600"
                     /db_xref="MIM:601116"
     misc_feature    364..366
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="upstream in-frame stop codon"
     CDS             457..3183
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="isoform a precursor is encoded by transcript variant
                     1; glutamate receptor, metabotropic 8"
                     /codon_start=1
                     /product="metabotropic glutamate receptor 8 isoform a
                     precursor"
                     /protein_id="NP_000836.2"
                     /db_xref="CCDS:CCDS5794.1"
                     /db_xref="GeneID:2918"
                     /db_xref="HGNC:HGNC:4600"
                     /db_xref="MIM:601116"
                     /translation="MVCEGKRSASCPCFFLLTAKFYWILTMMQRTHSQEYAHSIRVDGD
                     IILGGLFPVHAKGERGVPCGELKKEKGIHRLEAMLYAIDQINKDPDLLSNITLGVRILD
                     TCSRDTYALEQSLTFVQALIEKDASDVKCANGDPPIFTKPDKISGVIGAAASSVSIMVA
                     NILRLFKIPQISYASTAPELSDNTRYDFFSRVVPPDSYQAQAMVDIVTALGWNYVSTLA
                     SEGNYGESGVEAFTQISREIGGVCIAQSQKIPREPRPGEFEKIIKRLLETPNARAVIMF
                     ANEDDIRRILEAAKKLNQSGHFLWIGSDSWGSKIAPVYQQEEIAEGAVTILPKRASIDG
                     FDRYFRSRTLANNRRNVWFAEFWEENFGCKLGSHGKRNSHIKKCTGLERIARDSSYEQE
                     GKVQFVIDAVYSMAYALHNMHKDLCPGYIGLCPRMSTIDGKELLGYIRAVNFNGSAGTP
                     VTFNENGDAPGRYDIFQYQITNKSTEYKVIGHWTNQLHLKVEDMQWAHREHTHPASVCS
                     LPCKPGERKKTVKGVPCCWHCERCEGYNYQVDELSCELCPLDQRPNMNRTGCQLIPIIK
                     LEWHSPWAVVPVFVAILGIIATTFVIVTFVRYNDTPIVRASGRELSYVLLTGIFLCYSI
                     TFLMIAAPDTIICSFRRVFLGLGMCFSYAALLTKTNRIHRIFEQGKKSVTAPKFISPAS
                     QLVITFSLISVQLLGVFVWFVVDPPHIIIDYGEQRTLDPEKARGVLKCDISDLSLICSL
                     GYSILLMVTCTVYAIKTRGVPETFNEAKPIGFTMYTTCIIWLAFIPIFFGTAQSAEKMY
                     IQTTTLTVSMSLSASVSLGMLYMPKVYIIIFHPEQNVQKRKRSFKAVVTAATMQSKLIQ
                     KGNDRPNGEVKSELCESLETNTSSTKTTYISYSNHSI"
     sig_peptide     457..555
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O00222.2)"
     mat_peptide     556..3180
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /product="Metabotropic glutamate receptor 8.
                     /id=PRO_0000012941"
                     /note="propagated from UniProtKB/Swiss-Prot (O00222.2)"
     misc_feature    739..741
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00222.2); glycosylation site"
     misc_feature    1348..1350
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00222.2); glycosylation site"
     misc_feature    1810..1812
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00222.2); glycosylation site"
     misc_feature    1894..1896
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00222.2); glycosylation site"
     misc_feature    2149..2151
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00222.2); glycosylation site"
     misc_feature    2206..2280
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="propagated from UniProtKB/Swiss-Prot (O00222.2);
                     transmembrane region"
     misc_feature    2317..2379
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="propagated from UniProtKB/Swiss-Prot (O00222.2);
                     transmembrane region"
     misc_feature    2398..2460
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="propagated from UniProtKB/Swiss-Prot (O00222.2);
                     transmembrane region"
     misc_feature    2542..2604
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="propagated from UniProtKB/Swiss-Prot (O00222.2);
                     transmembrane region"
     misc_feature    2695..2760
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="propagated from UniProtKB/Swiss-Prot (O00222.2);
                     transmembrane region"
     misc_feature    2800..2865
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="propagated from UniProtKB/Swiss-Prot (O00222.2);
                     transmembrane region"
     misc_feature    2911..2985
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="propagated from UniProtKB/Swiss-Prot (O00222.2);
                     transmembrane region"
     regulatory      3625..3630
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="hexamer: AATAAA"
     polyA_site      3651
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
     regulatory      3680..3685
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="hexamer: AATAAA"
     polyA_site      3704
                     /gene="GRM8"
                     /gene_synonym="GLUR8; GPRC1H; mGlu8; MGLUR8"
                     /note="major polyA site"
ORIGIN
        1 agctcagccc cctcagccca gagatcagcc acaagtgcgg ccgctgtgct cgcctcacgc
       61 ggcggcggcg gcggcggcgg cggcgctgac atggagctgc gggcccccgg cgggcttcct
      121 caccgcgccc tctgcgggga gcagggaata attctgctac aaggctgatt tcaaggacat
      181 gaattgttga cctcatccca acatcagaac ctcagatgtt ctaatttttg caccattcca
      241 ggcaagttga tcttataagg aaataaaatt gaaccttagg ggtctgatgg aaattcactg
      301 tgacattcaa atcaagaaaa cttgctaatg cccacagagc cttttcccca tgggccctga
      361 tggtagcctc cagaaggtgc agcctcaggt ggtgcccttt cttctgtggc aagaataaac
      421 tttgggtctt ggattgcaat accacctgtg gagaaaatgg tatgcgaggg aaagcgatca
      481 gcctcttgcc cttgtttctt cctcttgacc gccaagttct actggatcct cacaatgatg
      541 caaagaactc acagccagga gtatgcccat tccatacggg tggatgggga cattattttg
      601 gggggtctct tccctgtcca cgcaaaggga gagagagggg tgccttgtgg ggagctgaag
      661 aaggaaaagg ggattcacag actggaggcc atgctttatg caattgacca gattaacaag
      721 gaccctgatc tcctttccaa catcactctg ggtgtccgca tcctcgacac gtgctctagg
      781 gacacctatg ctttggagca gtctctaaca ttcgtgcagg cattaataga gaaagatgct
      841 tcggatgtga agtgtgctaa tggagatcca cccattttca ccaagcccga caagatttct
      901 ggcgtcatag gtgctgcagc aagctccgtg tccatcatgg ttgctaacat tttaagactt
      961 tttaagatac ctcaaatcag ctatgcatcc acagccccag agctaagtga taacaccagg
     1021 tatgactttt tctctcgagt ggttccgcct gactcctacc aagcccaagc catggtggac
     1081 atcgtgacag cactgggatg gaattatgtt tcgacactgg cttctgaggg gaactatggt
     1141 gagagcggtg tggaggcctt cacccagatc tcgagggaga ttggtggtgt ttgcattgct
     1201 cagtcacaga aaatcccacg tgaaccaaga cctggagaat ttgaaaaaat tatcaaacgc
     1261 ctgctagaaa cacctaatgc tcgagcagtg attatgtttg ccaatgagga tgacatcagg
     1321 aggatattgg aagcagcaaa aaaactaaac caaagtgggc attttctctg gattggctca
     1381 gatagttggg gatccaaaat agcacctgtc tatcagcaag aggagattgc agaaggggct
     1441 gtgacaattt tgcccaaacg agcatcaatt gatggatttg atcgatactt tagaagccga
     1501 actcttgcca ataatcgaag aaatgtgtgg tttgcagaat tctgggagga gaattttggc
     1561 tgcaagttag gatcacatgg gaaaaggaac agtcatataa agaaatgcac agggctggag
     1621 cgaattgctc gggattcatc ttatgaacag gaaggaaagg tccaatttgt aattgatgct
     1681 gtatattcca tggcttacgc cctgcacaat atgcacaaag atctctgccc tggatacatt
     1741 ggcctttgtc cacgaatgag taccattgat gggaaagagc tacttggtta tattcgggct
     1801 gtaaatttta atggcagtgc tggcactcct gtcactttta atgaaaacgg agatgctcct
     1861 ggacgttatg atatcttcca gtatcaaata accaacaaaa gcacagagta caaagtcatc
     1921 ggccactgga ccaatcagct tcatctaaaa gtggaagaca tgcagtgggc tcatagagaa
     1981 catactcacc cggcgtctgt ctgcagcctg ccgtgtaagc caggggagag gaagaaaacg
     2041 gtgaaagggg tcccttgctg ctggcactgt gaacgctgtg aaggttacaa ctaccaggtg
     2101 gatgagctgt cctgtgaact ttgccctctg gatcagagac ccaacatgaa ccgcacaggc
     2161 tgccagctta tccccatcat caaattggag tggcattctc cctgggctgt ggtgcctgtg
     2221 tttgttgcaa tattgggaat catcgccacc acctttgtga tcgtgacctt tgtccgctat
     2281 aatgacacac ctatcgtgag ggcttcagga cgcgaactta gttacgtgct cctaacgggg
     2341 atttttctct gttattcaat cacgttttta atgattgcag caccagatac aatcatatgc
     2401 tccttccgac gggtcttcct aggacttggc atgtgtttca gctatgcagc ccttctgacc
     2461 aaaacaaacc gtatccaccg aatatttgag caggggaaga aatctgtcac agcgcccaag
     2521 ttcattagtc cagcatctca gctggtgatc accttcagcc tcatctccgt ccagctcctt
     2581 ggagtgtttg tctggtttgt tgtggatccc ccccacatca tcattgacta tggagagcag
     2641 cggacactag atccagagaa ggccagggga gtgctcaagt gtgacatttc tgatctctca
     2701 ctcatttgtt cacttggata cagtatcctc ttgatggtca cttgtactgt ttatgccatt
     2761 aaaacgagag gtgtcccaga gactttcaat gaagccaaac ctattggatt taccatgtat
     2821 accacctgca tcatttggtt agctttcatc cccatctttt ttggtacagc ccagtcagca
     2881 gaaaagatgt acatccagac aacaacactt actgtctcca tgagtttaag tgcttcagta
     2941 tctctgggca tgctctatat gcccaaggtt tatattataa tttttcatcc agaacagaat
     3001 gttcaaaaac gcaagaggag cttcaaggct gtggtgacag ctgccaccat gcaaagcaaa
     3061 ctgatccaaa aaggaaatga cagaccaaat ggcgaggtga aaagtgaact ctgtgagagt
     3121 cttgaaacca acacttcctc taccaagaca acatatatca gttacagcaa tcattcaatc
     3181 tgaaacaggg aaatggcaca atctgaagag atgtggtata tgatcttaaa tgatgaacat
     3241 gagaccgcaa aaattcactc ctggagatct ccgtagacta caatcaatca aatcaatagt
     3301 cagtcttgta aggaacaaaa attagccatg agccaaaagt atcaataaac ggggagtgaa
     3361 gaaacccgtt ttatacaata aaaccaatga gtgtcaagct aaagtattgc ttattcatga
     3421 gcagttaaaa caaatcacaa aaggaaaact aatgttagct cgtgaaaaaa aatgctgttg
     3481 aaataaataa tgtctgatgt tattcttgta tttttctgtg attgtgagaa ctcccgttcc
     3541 tgtcccacat tgtttaactt gtataagaca atgagtctgt ttcttgtaat ggctgaccag
     3601 attgaagccc tgggttgtgc taaaaataaa tgcaatgatt gatgcatgca attttttata
     3661 caaataattt atttctaata ataaaggaat gttttgcaaa tgtt
//
LOCUS       NM_000846               1221 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.
ACCESSION   NM_000846
VERSION     NM_000846.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1221)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1221)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1221)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 1221)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human genetic
            disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   5  (bases 1 to 1221)
  AUTHORS   Bonifazi F, Storci G, Bandini G, Marasco E, Dan E, Zani E, Albani F,
            Bertoni S, Bontadini A, De Carolis S, Sapienza MR, Rizzi S, Motta
            MR, Ferioli M, Garagnani P, Cavo M, Mantovani V and Bonafe M.
  TITLE     Glutathione transferase-A2 S112T polymorphism predicts survival,
            transplant-related mortality, busulfan and bilirubin blood levels
            after allogeneic stem cell transplantation
  JOURNAL   Haematologica 99 (1), 172-179 (2014)
   PUBMED   24056816
  REMARK    GeneRIF: the GSTA2 S112T polymorphism is predictive of transplant
            outcome in patients receiving busulfan in the preparative regimen,
            at least in association with cyclophosphamide.
REFERENCE   6  (bases 1 to 1221)
  AUTHORS   Rohrdanz E, Nguyen T and Pickett CB.
  TITLE     Isolation and characterization of the human glutathione
            S-transferase A2 subunit gene
  JOURNAL   Arch Biochem Biophys 298 (2), 747-752 (1992)
   PUBMED   1329668
REFERENCE   7  (bases 1 to 1221)
  AUTHORS   Bogaards JJ, van Ommen B and van Bladeren PJ.
  TITLE     Purification and characterization of eight glutathione S-transferase
            isoenzymes of hamster. Comparison of subunit composition of enzymes
            from liver, kidney, testis, pancreas and trachea
  JOURNAL   Biochem J 286 (Pt 2) (Pt 2), 383-388 (1992)
   PUBMED   1530570
REFERENCE   8  (bases 1 to 1221)
  AUTHORS   Klone A, Hussnatter R and Sies H.
  TITLE     Cloning, sequencing and characterization of the human alpha
            glutathione S-transferase gene corresponding to the cDNA clone pGTH2
  JOURNAL   Biochem J 285 (Pt 3) (Pt 3), 925-928 (1992)
   PUBMED   1497629
REFERENCE   9  (bases 1 to 1221)
  AUTHORS   Strange RC, Fryer AA, Matharoo B, Zhao L, Broome J, Campbell DA,
            Jones P, Pastor IC and Singh RV.
  TITLE     The human glutathione S-transferases: comparison of isoenzyme
            expression in normal and astrocytoma brain
  JOURNAL   Biochim Biophys Acta 1139 (3), 222-228 (1992)
   PUBMED   1627661
REFERENCE   10  (bases 1 to 1221)
  AUTHORS   Hayes JD, Kerr LA and Cronshaw AD.
  TITLE     Evidence that glutathione S-transferases B1B1 and B2B2 are the
            products of separate genes and that their expression in human liver
            is subject to inter-individual variation. Molecular relationships
            between the B1 and B2 subunits and other Alpha class glutathione
            S-transferases
  JOURNAL   Biochem J 264 (2), 437-445 (1989)
   PUBMED   2604726
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HM005682.1, SRR5189664.131477.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000493422.3/ ENSP00000420168.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC002895.2, AL109918.25,
            AK292602.1 and BU685446.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000846.4.
            Summary: Cytosolic and membrane-bound forms of glutathione
            S-transferase are encoded by two distinct supergene families. These
            enzymes function in the detoxification of electrophilic compounds,
            including carcinogens, therapeutic drugs, environmental toxins and
            products of oxidative stress, by conjugation with glutathione. The
            genes encoding these enzymes are known to be highly polymorphic.
            These genetic variations can change an individual's susceptibility
            to carcinogens and toxins as well as affect the toxicity and
            efficacy of some drugs. At present, eight distinct classes of the
            soluble cytoplasmic mammalian glutathione S-transferases have been
            identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta.
            This gene encodes a glutathione S-tranferase belonging to the alpha
            class. The alpha class genes, located in a cluster mapped to
            chromosome 6, are the most abundantly expressed glutathione
            S-transferases in liver. In addition to metabolizing bilirubin and
            certain anti-cancer drugs in the liver, the alpha class of these
            enzymes exhibit glutathione peroxidase activity thereby protecting
            the cells from reactive oxygen species and the products of
            peroxidation. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1221
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.2"
     gene            1..1221
                     /gene="GSTA2"
                     /gene_synonym="GST2; GSTA2-2; GTA2; GTH2"
                     /note="glutathione S-transferase alpha 2"
                     /db_xref="GeneID:2939"
                     /db_xref="HGNC:HGNC:4627"
                     /db_xref="MIM:138360"
     misc_feature    36..38
                     /gene="GSTA2"
                     /gene_synonym="GST2; GSTA2-2; GTA2; GTH2"
                     /note="upstream in-frame stop codon"
     CDS             63..731
                     /gene="GSTA2"
                     /gene_synonym="GST2; GSTA2-2; GTA2; GTH2"
                     /EC_number="2.5.1.18"
                     /note="liver GST2; glutathione S-alkyltransferase A2;
                     glutathione S-aryltransferase A2;
                     S-(hydroxyalkyl)glutathione lyase A2; glutathione
                     S-aralkyltransferase A2; GST-gamma; GST HA subunit 2; GST
                     class-alpha member 2; testis tissue sperm-binding protein
                     Li 59n"
                     /codon_start=1
                     /product="glutathione S-transferase A2"
                     /protein_id="NP_000837.3"
                     /db_xref="CCDS:CCDS4944.1"
                     /db_xref="GeneID:2939"
                     /db_xref="HGNC:HGNC:4627"
                     /db_xref="MIM:138360"
                     /translation="MAEKPKLHYSNIRGRMESIRWLLAAAGVEFEEKFIKSAEDLDKLR
                     NDGYLMFQQVPMVEIDGMKLVQTRAILNYIASKYNLYGKDIKEKALIDMYIEGIADLGE
                     MILLLPFSQPEEQDAKLALIQEKTKNRYFPAFEKVLKSHGQDYLVGNKLSRADIHLVEL
                     LYYVEELDSSLISSFPLLKALKTRISNLPTVKKFLQPGSPRKPPMDEKSLEESRKIFRF
                     "
     misc_feature    66..68
                     /gene="GSTA2"
                     /gene_synonym="GST2; GSTA2-2; GTA2; GTH2"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000250|UniProtKB:P30115; propagated from
                     UniProtKB/Swiss-Prot (P09210.4); acetylation site"
     misc_feature    657..728
                     /gene="GSTA2"
                     /gene_synonym="GST2; GSTA2-2; GTA2; GTH2"
                     /note="propagated from UniProtKB/Swiss-Prot (P09210.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      981..986
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSTA2"
                     /gene_synonym="GST2; GSTA2-2; GTA2; GTH2"
                     /note="hexamer: AGTAAA"
     polyA_site      1001
                     /gene="GSTA2"
                     /gene_synonym="GST2; GSTA2-2; GTA2; GTH2"
                     /note="major polyA site"
     regulatory      1064..1069
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSTA2"
                     /gene_synonym="GST2; GSTA2-2; GTA2; GTH2"
                     /note="hexamer: ATTAAA"
     polyA_site      1088
                     /gene="GSTA2"
                     /gene_synonym="GST2; GSTA2-2; GTA2; GTH2"
     regulatory      1186..1191
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSTA2"
                     /gene_synonym="GST2; GSTA2-2; GTA2; GTH2"
                     /note="hexamer: GATAAA"
     polyA_site      1221
                     /gene="GSTA2"
                     /gene_synonym="GST2; GSTA2-2; GTA2; GTH2"
ORIGIN
        1 gtccagccac aaaggtgaca gcatttaaca aagcttagag aaacctccag gagactgcta
       61 ccatggcaga gaagcccaag ctccactact ccaatatacg gggcagaatg gagtccatcc
      121 ggtggctcct ggctgcagct ggagtagagt ttgaagagaa atttataaaa tctgcagaag
      181 atttggacaa gttaagaaat gatggatatt tgatgttcca gcaagtgcca atggttgaga
      241 ttgatgggat gaagctggtg cagaccagag ccattctcaa ctacattgcc agcaaataca
      301 acctctatgg gaaagacata aaggagaaag ccctgattga tatgtatata gaaggtatag
      361 cagatttggg tgaaatgatc cttcttctgc cctttagtca acctgaggaa caagatgcca
      421 agcttgcctt gatccaagag aaaacaaaaa atcgctactt ccctgccttt gaaaaagtct
      481 taaagagcca cggacaagac taccttgttg gcaacaagct gagccgggct gacattcacc
      541 tggtggaact tctctactac gtggaagagc ttgactctag ccttatttcc agcttccctc
      601 tgctgaaggc cctgaaaacc agaatcagta acctgcccac agtgaagaag tttctacagc
      661 ctggcagccc aaggaagcct cccatggatg agaaatcttt agaagaatca aggaagattt
      721 tcaggtttta ataaaccagc catagaggtc aagaacatgc aagaccagta ttctaaagtt
      781 ttgcaacaat taagtgcttt acctaagtgt tgattgtgcc tgttgtgaag ctaatgaact
      841 ctttcaaatt atatgctaat taaataatac aactcctatt cacccactta gttaaaattg
      901 atttcttctc attaggatct gatgtgaatt cagttttcca atctcctcct agccaacaat
      961 tttcttggaa ttacaaattc agtaaaaatg gaaactataa attatgtggt ttgtttgact
     1021 tttccaagaa ttgccctgta acatacaatt tgtcatacaa tctattaaaa tgccaatgta
     1081 aaaatgcacc tctgacattt tcaggtatgc acaggagaag agttaccatc ctggataatg
     1141 gcataaagac attttcttct tttcctgaac agtcatttta tttctgataa aagcattctt
     1201 tctaatgcat ttgcaaaaca a
//
LOCUS       NM_000847                908 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens glutathione S-transferase alpha 3 (GSTA3), transcript
            variant 1, mRNA.
ACCESSION   NM_000847
VERSION     NM_000847.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 908)
  AUTHORS   Li W, Qiu C, Wang S, Wu L and Zhao T.
  TITLE     Inhibitory effect of glutathione S-transferase A3 in the progression
            of cutaneous squamous cell carcinoma
  JOURNAL   J Cosmet Dermatol 20 (7), 2287-2295 (2021)
   PUBMED   33089654
  REMARK    GeneRIF: Inhibitory effect of glutathione S-transferase A3 in the
            progression of cutaneous squamous cell carcinoma.
REFERENCE   2  (bases 1 to 908)
  AUTHORS   Duan S, Gong B, Wang P, Huang H, Luo L and Liu F.
  TITLE     Novel prognostic biomarkers of gastric cancer based on gene
            expression microarray: COL12A1, GSTA3, FGA and FGG
  JOURNAL   Mol Med Rep 18 (4), 3727-3736 (2018)
   PUBMED   30106150
  REMARK    GeneRIF: Certain core genes, including COL12A1, glutathione
            Stransferase alpha3 (GSTA3), fibrinogen alpha chain (FGA) and
            fibrinogen gamma chain (FGG), were the first reported to be
            associated with Gastric Cancer. Survival analysis suggested that
            these four genes, COL12A1 (P=0.002), GSTA3 (P=3.4x106), FGA
            (P=0.00075) and FGG (P=1.4x105), were significant poor prognostic
            factors of gastric cancer.
REFERENCE   3  (bases 1 to 908)
  AUTHORS   Wang Y and Tatakis DN.
  TITLE     Human gingiva transcriptome during wound healing
  JOURNAL   J Clin Periodontol 44 (4), 394-402 (2017)
   PUBMED   28005267
  REMARK    GeneRIF: GSTA3 expression is significantly downregulated in human
            masticatory mucosa during wound healing
REFERENCE   4  (bases 1 to 908)
  AUTHORS   Daka JL, Achilonu I and Dirr HW.
  TITLE     The isomerization of Delta5-androstene-3,17-dione by the human
            glutathione transferase A3-3 proceeds via a conjugated heteroannular
            diene intermediate
  JOURNAL   J Biol Chem 289 (46), 32243-32252 (2014)
   PUBMED   25248748
  REMARK    GeneRIF: analysis of how isomerization of the steroid
            Delta(5)-androstene-3,17-dione by the glutathione transferase A3-3
REFERENCE   5  (bases 1 to 908)
  AUTHORS   Dourado DF, Fernandes PA, Mannervik B and Ramos MJ.
  TITLE     Isomerization of Delta5-androstene-3,17-dione into
            Delta4-androstene-3,17-dione catalyzed by human glutathione
            transferase A3-3: a computational study identifies a dual role for
            glutathione
  JOURNAL   J Phys Chem A 118 (31), 5790-5800 (2014)
   PUBMED   24739064
  REMARK    GeneRIF: Density functional theory calculations used to propose a
            refined mechanism for the isomerization of
            delta(5)-androstene-3,17-dione catalyzed by GST A3-3
REFERENCE   6  (bases 1 to 908)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   7  (bases 1 to 908)
  AUTHORS   Johansson AS and Mannervik B.
  TITLE     Active-site residues governing high steroid isomerase activity in
            human glutathione transferase A3-3
  JOURNAL   J Biol Chem 277 (19), 16648-16654 (2002)
   PUBMED   11872752
REFERENCE   8  (bases 1 to 908)
  AUTHORS   Johansson AS and Mannervik B.
  TITLE     Human glutathione transferase A3-3, a highly efficient catalyst of
            double-bond isomerization in the biosynthetic pathway of steroid
            hormones
  JOURNAL   J Biol Chem 276 (35), 33061-33065 (2001)
   PUBMED   11418619
REFERENCE   9  (bases 1 to 908)
  AUTHORS   Board PG.
  TITLE     Identification of cDNAs encoding two human alpha class glutathione
            transferases (GSTA3 and GSTA4) and the heterologous expression of
            GSTA4-4
  JOURNAL   Biochem J 330 (Pt 2) (Pt 2), 827-831 (1998)
   PUBMED   9480897
REFERENCE   10  (bases 1 to 908)
  AUTHORS   Suzuki T, Johnston PN and Board PG.
  TITLE     Structure and organization of the human alpha class glutathione
            S-transferase genes and related pseudogenes
  JOURNAL   Genomics 18 (3), 680-686 (1993)
   PUBMED   8307579
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX365400.2, SRR5189667.387893.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03267761
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000211122.4/ ENSP00000211122.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DT932587.1, BC020619.1,
            AL121969.12 and AI199811.1.
            On Nov 23, 2018 this sequence version replaced NM_000847.4.
            Summary: Cytosolic and membrane-bound forms of glutathione
            S-transferase are encoded by two distinct supergene families. These
            enzymes are involved in cellular defense against toxic,
            carcinogenic, and pharmacologically active electrophilic compounds.
            At present, eight distinct classes of the soluble cytoplasmic
            mammalian glutathione S-transferases have been identified: alpha,
            kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a
            glutathione S-tranferase belonging to the alpha class genes that
            are located in a cluster mapped to chromosome 6. Genes of the alpha
            class are highly related and encode enzymes with glutathione
            peroxidase activity. However, during evolution, this alpha class
            gene diverged accumulating mutations in the active site that
            resulted in differences in substrate specificity and catalytic
            activity. The enzyme encoded by this gene catalyzes the double bond
            isomerization of precursors for progesterone and testosterone
            during the biosynthesis of steroid hormones. An additional
            transcript variant has been identified, but its full length
            sequence has not been determined. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..908
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.2"
     gene            1..908
                     /gene="GSTA3"
                     /gene_synonym="GSTA3-3; GTA3"
                     /note="glutathione S-transferase alpha 3"
                     /db_xref="GeneID:2940"
                     /db_xref="HGNC:HGNC:4628"
                     /db_xref="MIM:605449"
     CDS             80..748
                     /gene="GSTA3"
                     /gene_synonym="GSTA3-3; GTA3"
                     /EC_number="2.5.1.18"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glutathione S-alkyltransferase A3; glutathione
                     S-aryltransferase A3; S-(hydroxyalkyl)glutathione lyase A3;
                     glutathione S-aralkyltransferase A3; glutathione
                     S-transferase A3-3; GST class-alpha member 3"
                     /codon_start=1
                     /product="glutathione S-transferase A3 isoform 1"
                     /protein_id="NP_000838.3"
                     /db_xref="CCDS:CCDS4947.1"
                     /db_xref="GeneID:2940"
                     /db_xref="HGNC:HGNC:4628"
                     /db_xref="MIM:605449"
                     /translation="MAGKPKLHYFNGRGRMEPIRWLLAAAGVEFEEKFIGSAEDLGKLR
                     NDGSLMFQQVPMVEIDGMKLVQTRAILNYIASKYNLYGKDIKERALIDMYTEGMADLNE
                     MILLLPLCRPEEKDAKIALIKEKTKSRYFPAFEKVLQSHGQDYLVGNKLSRADISLVEL
                     LYYVEELDSSLISNFPLLKALKTRISNLPTVKKFLQPGSPRKPPADAKALEEARKIFRF
                     "
     misc_feature    83..85
                     /gene="GSTA3"
                     /gene_synonym="GSTA3-3; GTA3"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000250|UniProtKB:P30115; propagated from
                     UniProtKB/Swiss-Prot (Q16772.3); acetylation site"
     regulatory      883..888
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSTA3"
                     /gene_synonym="GSTA3-3; GTA3"
                     /note="hexamer: AATAAA"
     polyA_site      908
                     /gene="GSTA3"
                     /gene_synonym="GSTA3-3; GTA3"
                     /note="major polyA site"
ORIGIN
        1 atacacatca ggaggtggcc ttgagaagct gagcggagac cggctagact ttactcaaag
       61 aaaccaagag actgttacca tggcagggaa gcccaagctt cactacttca atggacgggg
      121 cagaatggag cccatccggt ggctcttggc tgcagctgga gtggagtttg aagagaaatt
      181 tataggatct gcagaagatt tgggaaagtt aagaaatgat gggagtttga tgttccagca
      241 agtaccaatg gttgagattg atgggatgaa gttggtacag accagagcca ttctcaacta
      301 cattgccagc aaatacaacc tctacgggaa agacataaag gagagagccc taattgatat
      361 gtatacagaa ggtatggcag atttgaatga aatgatcctt cttctgccct tatgtcgacc
      421 tgaggaaaaa gatgccaaga ttgccttgat caaagagaaa acaaaaagtc gctatttccc
      481 tgccttcgaa aaagtgttac agagccatgg acaagactac cttgttggca acaagctgag
      541 ccgggctgac attagcctgg tggaacttct ctactatgtg gaagagcttg actccagcct
      601 tatctccaac ttccctctgc tgaaggccct gaaaaccaga atcagcaacc tgcccacggt
      661 gaagaagttt ctacagcctg gcagcccaag gaagcctccc gcagatgcaa aagctttaga
      721 agaagccaga aagattttca ggttttaata aagcagccat ggaggctaag aacatgcaag
      781 accaatattc taaagttttg caacaatgaa gtgctttact taagtgttga ttgtgcctgt
      841 tgtaaagcta atgaaccctt tccaattata tgctaattaa ataataaaaa ctcctatttg
      901 ctaactta
//
LOCUS       NM_000848               1166 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens glutathione S-transferase mu 2 (GSTM2), transcript
            variant 1, mRNA.
ACCESSION   NM_000848
VERSION     NM_000848.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1166)
  AUTHORS   Li C, Liu J, He D, Mao F, Rao X, Zhao Y, Lanman NA, Kazemian M,
            Farah E, Liu J, Ngule CM, Zhang Z, Zhang Y, Kong Y, Li L, Wang C and
            Liu X.
  TITLE     GSTM2 is a key molecular determinant of resistance to SG-ARIs
  JOURNAL   Oncogene 41 (40), 4498-4511 (2022)
   PUBMED   36038661
  REMARK    GeneRIF: GSTM2 is a key molecular determinant of resistance to
            SG-ARIs.
REFERENCE   2  (bases 1 to 1166)
  AUTHORS   Valdes R, Armijo A, Munoz P, Hultenby K, Hagg A, Inzunza J, Nalvarte
            I, Varshney M, Mannervik B and Segura-Aguilar J.
  TITLE     Cellular Trafficking of Glutathione Transferase M2-2 Between U373MG
            and SHSY-S7 Cells is Mediated by Exosomes
  JOURNAL   Neurotox Res 39 (2), 182-190 (2021)
   PUBMED   33555546
  REMARK    GeneRIF: Cellular Trafficking of Glutathione Transferase M2-2
            Between U373MG and SHSY-S7 Cells is Mediated by Exosomes.
REFERENCE   3  (bases 1 to 1166)
  AUTHORS   Fafian-Labora JA, Rodriguez-Navarro JA and O'Loghlen A.
  TITLE     Small Extracellular Vesicles Have GST Activity and Ameliorate
            Senescence-Related Tissue Damage
  JOURNAL   Cell Metab 32 (1), 71-86 (2020)
   PUBMED   32574561
  REMARK    GeneRIF: Small Extracellular Vesicles Have GST Activity and
            Ameliorate Senescence-Related Tissue Damage.
REFERENCE   4  (bases 1 to 1166)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1166)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 1166)
  AUTHORS   Bogaards JJ, van Ommen B and van Bladeren PJ.
  TITLE     Purification and characterization of eight glutathione S-transferase
            isoenzymes of hamster. Comparison of subunit composition of enzymes
            from liver, kidney, testis, pancreas and trachea
  JOURNAL   Biochem J 286 (Pt 2) (Pt 2), 383-388 (1992)
   PUBMED   1530570
REFERENCE   7  (bases 1 to 1166)
  AUTHORS   Dawson SJ and White LA.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   8  (bases 1 to 1166)
  AUTHORS   Vorachek WR, Pearson WR and Rule GS.
  TITLE     Cloning, expression, and characterization of a class-mu glutathione
            transferase from human muscle, the product of the GST4 locus
  JOURNAL   Proc Natl Acad Sci U S A 88 (10), 4443-4447 (1991)
   PUBMED   2034681
REFERENCE   9  (bases 1 to 1166)
  AUTHORS   Taylor JB, Oliver J, Sherrington R and Pemble SE.
  TITLE     Structure of human glutathione S-transferase class Mu genes
  JOURNAL   Biochem J 274 (Pt 2) (Pt 2), 587-593 (1991)
   PUBMED   2006920
REFERENCE   10  (bases 1 to 1166)
  AUTHORS   Campbell E, Takahashi Y, Abramovitz M, Peretz M and Listowsky I.
  TITLE     A distinct human testis and brain mu-class glutathione
            S-transferase. Molecular cloning and characterization of a form
            present even in individuals lacking hepatic type mu isoenzymes
  JOURNAL   J Biol Chem 265 (16), 9188-9193 (1990)
   PUBMED   2345169
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.264722.1,
            SRR1163657.314161.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000241337.9/ ENSP00000241337.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA528798.1, BC105038.1 and
            BC110380.1.
            On Nov 22, 2018 this sequence version replaced NM_000848.3.
            Summary: Cytosolic and membrane-bound forms of glutathione
            S-transferase are encoded by two distinct supergene families. At
            present, eight distinct classes of the soluble cytoplasmic
            mammalian glutathione S-transferases have been identified: alpha,
            kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a
            glutathione S-transferase that belongs to the mu class. The mu
            class of enzymes functions in the detoxification of electrophilic
            compounds, including carcinogens, therapeutic drugs, environmental
            toxins and products of oxidative stress, by conjugation with
            glutathione. The genes encoding the mu class of enzymes are
            organized in a gene cluster on chromosome 1p13.3 and are known to
            be highly polymorphic. These genetic variations can change an
            individual's susceptibility to carcinogens and toxins as well as
            affect the toxicity and efficacy of certain drugs. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1166
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..1166
                     /gene="GSTM2"
                     /gene_synonym="GST4; GSTM; GSTM2-2; GTHMUS"
                     /note="glutathione S-transferase mu 2"
                     /db_xref="GeneID:2946"
                     /db_xref="HGNC:HGNC:4634"
                     /db_xref="MIM:138380"
     misc_feature    24..26
                     /gene="GSTM2"
                     /gene_synonym="GST4; GSTM; GSTM2-2; GTHMUS"
                     /note="upstream in-frame stop codon"
     CDS             60..716
                     /gene="GSTM2"
                     /gene_synonym="GST4; GSTM; GSTM2-2; GTHMUS"
                     /EC_number="2.5.1.18"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glutathione S-transferase M2 (muscle); glutathione
                     S-transferase 4; GST, muscle; GST class-mu 2; glutathione
                     S-alkyltransferase M2; glutathione S-aryltransferase M2;
                     S-(hydroxyalkyl)glutathione lyase M2; glutathione
                     S-aralkyltransferase M2; glutathione S-transferase M1;
                     glutathione S-transferase mu 2 (muscle); epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="glutathione S-transferase Mu 2 isoform 1"
                     /protein_id="NP_000839.1"
                     /db_xref="CCDS:CCDS808.1"
                     /db_xref="GeneID:2946"
                     /db_xref="HGNC:HGNC:4634"
                     /db_xref="MIM:138380"
                     /translation="MPMTLGYWNIRGLAHSIRLLLEYTDSSYEEKKYTMGDAPDYDRSQ
                     WLNEKFKLGLDFPNLPYLIDGTHKITQSNAILRYIARKHNLCGESEKEQIREDILENQF
                     MDSRMQLAKLCYDPDFEKLKPEYLQALPEMLKLYSQFLGKQPWFLGDKITFVDFIAYDV
                     LERNQVFEPSCLDAFPNLKDFISRFEGLEKISAYMKSSRFLPRPVFTKMAVWGNK"
     misc_feature    138..140
                     /gene="GSTM2"
                     /gene_synonym="GST4; GSTM; GSTM2-2; GTHMUS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P08010; propagated from
                     UniProtKB/Swiss-Prot (P28161.2); phosphorylation site"
     misc_feature    189..191
                     /gene="GSTM2"
                     /gene_synonym="GST4; GSTM; GSTM2-2; GTHMUS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P08010; propagated from
                     UniProtKB/Swiss-Prot (P28161.2); phosphorylation site"
     misc_feature    687..689
                     /gene="GSTM2"
                     /gene_synonym="GST4; GSTM; GSTM2-2; GTHMUS"
                     /note="Important for substrate specificity; propagated from
                     UniProtKB/Swiss-Prot (P28161.2); other site"
     regulatory      1149..1154
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSTM2"
                     /gene_synonym="GST4; GSTM; GSTM2-2; GTHMUS"
                     /note="hexamer: AGTAAA"
     polyA_site      1166
                     /gene="GSTM2"
                     /gene_synonym="GST4; GSTM; GSTM2-2; GTHMUS"
                     /note="major polyA site"
ORIGIN
        1 acaaacgctg agccccgccc cgctgaggcc tgtctgcaga atccacagca accagcacca
       61 tgcccatgac actggggtac tggaacatcc gcgggctggc ccattccatc cgcctgctcc
      121 tggaatacac agactcaagc tacgaggaaa agaagtacac gatgggggac gctcctgatt
      181 atgacagaag ccagtggctg aatgaaaaat tcaagctggg cctggacttt cccaatctgc
      241 cctacttgat tgatgggact cacaagatca cccagagcaa cgccatcctg cggtacattg
      301 cccgcaagca caacctgtgc ggggaatcag aaaaggagca gattcgcgaa gacattttgg
      361 agaaccagtt tatggacagc cgtatgcagc tggccaaact ctgctatgac ccagattttg
      421 agaaactgaa accagaatac ctgcaggcac tccctgaaat gctgaagctc tactcacagt
      481 ttctggggaa gcagccatgg tttcttgggg acaagatcac ctttgtggat ttcatcgctt
      541 atgatgtcct tgagagaaac caagtatttg agcccagctg cctggatgcc ttcccaaacc
      601 tgaaggactt catctcccga tttgagggct tggagaagat ctctgcctac atgaagtcca
      661 gccgcttcct cccaagacct gtgttcacaa agatggctgt ctggggcaac aagtagggcc
      721 ttgaaggcca ggaggtggga gtgaggagcc catactcagc ctgctgccca ggctgtgcag
      781 cgcagctgga ctctgcatcc cagcacctgc ctcctcgttc ctttctcctg tttattccca
      841 tctttactcc caagacttca ttgtccctct tcactccccc taaacccctg tcccatgcag
      901 gccctttgaa gcctcagcta cccactatcc ttcgtgaaca tcccctccca tcattaccct
      961 tccctgcact aaagccagcc tgaccttcct tcctgttagt ggttgtgtct gctttaaagg
     1021 gcctgcctgg cccctcgcct gtggagctca gccccgagct gtccccgtgt tgcatgaagg
     1081 agcagcattg actggtttac aggccctgct cctgcagcat ggtccctgcc ttaggcctac
     1141 ctgatggaag taaagcctca accaca
//
LOCUS       NM_000849               4122 bp    mRNA    linear   PRI 06-JAN-2023
DEFINITION  Homo sapiens glutathione S-transferase mu 3 (GSTM3), transcript
            variant 1, mRNA.
ACCESSION   NM_000849
VERSION     NM_000849.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4122)
  AUTHORS   Cheng SY, Chen NF, Wen ZH, Yao ZK, Tsui KH, Kuo HM and Chen WF.
  TITLE     Glutathione S-Transferase M3 Is Associated with Glycolysis in
            Intrinsic Temozolomide-Resistant Glioblastoma Multiforme Cells
  JOURNAL   Int J Mol Sci 22 (13), 7080 (2021)
   PUBMED   34209254
  REMARK    GeneRIF: Glutathione S-Transferase M3 Is Associated with Glycolysis
            in Intrinsic Temozolomide-Resistant Glioblastoma Multiforme Cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4122)
  AUTHORS   Gibbard E, Cochrane DR, Pors J, Negri GL, Colborne S, Cheng AS, Chow
            C, Farnell D, Tessier-Cloutier B, McAlpine JN, Morin GB, Schmidt D,
            Kommoss S, Kommoss F, Keul J, Gilks B, Huntsman DG and Hoang L.
  TITLE     Whole-proteome analysis of mesonephric-derived cancers describes new
            potential biomarkers
  JOURNAL   Hum Pathol 108, 1-11 (2021)
   PUBMED   33121982
  REMARK    GeneRIF: Whole-proteome analysis of mesonephric-derived cancers
            describes new potential biomarkers.
REFERENCE   3  (bases 1 to 4122)
  AUTHORS   Yang F, Wen J, Luo K and Fu J.
  TITLE     Low GSTM3 expression is associated with poor disease-free survival
            in resected esophageal squamous cell carcinoma
  JOURNAL   Diagn Pathol 16 (1), 10 (2021)
   PUBMED   33482859
  REMARK    GeneRIF: Low GSTM3 expression is associated with poor disease-free
            survival in resected esophageal squamous cell carcinoma. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 4122)
  AUTHORS   Juang JJ, Binda A, Lee SJ, Hwang JJ, Chen WJ, Liu YB, Lin LY, Yu CC,
            Ho LT, Huang HC, Chen CJ, Lu TP, Lai LC, Yeh SS, Lai LP, Chuang EY,
            Rivolta I and Antzelevitch C.
  TITLE     GSTM3 variant is a novel genetic modifier in Brugada syndrome, a
            disease with risk of sudden cardiac death
  JOURNAL   EBioMedicine 57, 102843 (2020)
   PUBMED   32645615
  REMARK    GeneRIF: GSTM3 variant is a novel genetic modifier in Brugada
            syndrome, a disease with risk of sudden cardiac death.
REFERENCE   5  (bases 1 to 4122)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 4122)
  AUTHORS   Anttila S, Hirvonen A, Vainio H, Husgafvel-Pursiainen K, Hayes JD
            and Ketterer B.
  TITLE     Immunohistochemical localization of glutathione S-transferases in
            human lung
  JOURNAL   Cancer Res 53 (23), 5643-5648 (1993)
   PUBMED   8242618
REFERENCE   7  (bases 1 to 4122)
  AUTHORS   Hussey AJ and Hayes JD.
  TITLE     Human Mu-class glutathione S-transferases present in liver, skeletal
            muscle and testicular tissue
  JOURNAL   Biochim Biophys Acta 1203 (1), 131-141 (1993)
   PUBMED   8218382
REFERENCE   8  (bases 1 to 4122)
  AUTHORS   Ross VL and Board PG.
  TITLE     Molecular cloning and heterologous expression of an alternatively
            spliced human Mu class glutathione S-transferase transcript
  JOURNAL   Biochem J 294 (Pt 2) (Pt 2), 373-380 (1993)
   PUBMED   8373352
REFERENCE   9  (bases 1 to 4122)
  AUTHORS   Bogaards JJ, van Ommen B and van Bladeren PJ.
  TITLE     Purification and characterization of eight glutathione S-transferase
            isoenzymes of hamster. Comparison of subunit composition of enzymes
            from liver, kidney, testis, pancreas and trachea
  JOURNAL   Biochem J 286 (Pt 2) (Pt 2), 383-388 (1992)
   PUBMED   1530570
REFERENCE   10  (bases 1 to 4122)
  AUTHORS   Campbell E, Takahashi Y, Abramovitz M, Peretz M and Listowsky I.
  TITLE     A distinct human testis and brain mu-class glutathione
            S-transferase. Molecular cloning and characterization of a form
            present even in individuals lacking hepatic type mu isoenzymes
  JOURNAL   J Biol Chem 265 (16), 9188-9193 (1990)
   PUBMED   2345169
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC008790.2, SRR1660809.80016.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000361066.7/ ENSP00000354357.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC008790.2, AL158847.22 and
            BC030253.1.
            On May 17, 2019 this sequence version replaced NM_000849.4.
            Summary: Cytosolic and membrane-bound forms of glutathione
            S-transferase are encoded by two distinct supergene families. At
            present, eight distinct classes of the soluble cytoplasmic
            mammalian glutathione S-transferases have been identified: alpha,
            kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a
            glutathione S-transferase that belongs to the mu class. The mu
            class of enzymes functions in the detoxification of electrophilic
            compounds, including carcinogens, therapeutic drugs, environmental
            toxins and products of oxidative stress, by conjugation with
            glutathione. The genes encoding the mu class of enzymes are
            organized in a gene cluster on chromosome 1p13.3 and are known to
            be highly polymorphic. These genetic variations can change an
            individual's susceptibility to carcinogens and toxins as well as
            affect the toxicity and efficacy of certain drugs. Mutations of
            this class mu gene have been linked with a slight increase in a
            number of cancers, likely due to exposure with environmental
            toxins. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Nov 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4122
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..4122
                     /gene="GSTM3"
                     /gene_synonym="GST5; GSTB; GSTM3-3; GSTM3TV2; GTM3;
                     hGSTM3-3"
                     /note="glutathione S-transferase mu 3"
                     /db_xref="GeneID:2947"
                     /db_xref="HGNC:HGNC:4635"
                     /db_xref="MIM:138390"
     misc_feature    281..283
                     /gene="GSTM3"
                     /gene_synonym="GST5; GSTB; GSTM3-3; GSTM3TV2; GTM3;
                     hGSTM3-3"
                     /note="upstream in-frame stop codon"
     CDS             311..988
                     /gene="GSTM3"
                     /gene_synonym="GST5; GSTB; GSTM3-3; GSTM3TV2; GTM3;
                     hGSTM3-3"
                     /EC_number="2.5.1.18"
                     /note="glutathione S-transferase M3 (brain); glutathione
                     S-transferase, Mu-3; brain GST; glutathione
                     S-alkyltransferase M3; glutathione S-aryltransferase M3;
                     S-(hydroxyalkyl)glutathione lyase M3; glutathione
                     S-aralkyltransferase M3; GST class-mu 3; glutathione
                     S-transferase mu 3 (brain); brain type mu-glutathione
                     S-transferase; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="glutathione S-transferase Mu 3"
                     /protein_id="NP_000840.2"
                     /db_xref="CCDS:CCDS812.1"
                     /db_xref="GeneID:2947"
                     /db_xref="HGNC:HGNC:4635"
                     /db_xref="MIM:138390"
                     /translation="MSCESSMVLGYWDIRGLAHAIRLLLEFTDTSYEEKRYTCGEAPDY
                     DRSQWLDVKFKLDLDFPNLPYLLDGKNKITQSNAILRYIARKHNMCGETEEEKIRVDII
                     ENQVMDFRTQLIRLCYSSDHEKLKPQYLEELPGQLKQFSMFLGKFSWFAGEKLTFVDFL
                     TYDILDQNRIFDPKCLDEFPNLKAFMCRFEALEKIAAYLQSDQFCKMPINNKMAQWGNK
                     PVC"
     regulatory      1065..1070
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSTM3"
                     /gene_synonym="GST5; GSTB; GSTM3-3; GSTM3TV2; GTM3;
                     hGSTM3-3"
                     /note="hexamer: AATGAA"
     polyA_site      1084
                     /gene="GSTM3"
                     /gene_synonym="GST5; GSTB; GSTM3-3; GSTM3TV2; GTM3;
                     hGSTM3-3"
                     /note="major polyA site"
     regulatory      1532..1537
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSTM3"
                     /gene_synonym="GST5; GSTB; GSTM3-3; GSTM3TV2; GTM3;
                     hGSTM3-3"
                     /note="hexamer: ATTAAA"
     polyA_site      1557
                     /gene="GSTM3"
                     /gene_synonym="GST5; GSTB; GSTM3-3; GSTM3TV2; GTM3;
                     hGSTM3-3"
     regulatory      4098..4103
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSTM3"
                     /gene_synonym="GST5; GSTB; GSTM3-3; GSTM3TV2; GTM3;
                     hGSTM3-3"
                     /note="hexamer: AATAAA"
     polyA_site      4122
                     /gene="GSTM3"
                     /gene_synonym="GST5; GSTB; GSTM3-3; GSTM3TV2; GTM3;
                     hGSTM3-3"
ORIGIN
        1 ggttggttct gagaaggctt caaggaatag gcagacattt cagcaaggct gctgaggaag
       61 gataggctgt ggaaattagg atgcagcact cctgcccggg tcccgcctcg gggtcgccag
      121 gccctgaacc ccaacgccgg cattagtcgc gcctgcgcac ggccctgtgg agccgcggag
      181 gcaagggacg gagaacgggg cggaggcgga gtcagggcgc ccgcgcgtgg gccccgcccc
      241 cttatgtcgg gtataaagcc cctcccgctc acagtttccc tagtcctcga aggctcggaa
      301 gcccgtcacc atgtcgtgcg agtcgtctat ggttctcggg tactgggata ttcgtgggct
      361 ggcgcacgcc atccgcctgc tcctggagtt cacggatacc tcttatgagg agaaacggta
      421 cacgtgcggg gaagctcctg actatgatcg aagccaatgg ctggatgtga aattcaagct
      481 agacctggac tttcctaatc tgccctacct cctggatggg aagaacaaga tcacccagag
      541 caatgccatc ttgcgctaca tcgctcgcaa gcacaacatg tgtggtgaga ctgaagaaga
      601 aaagattcga gtggacatca tagagaacca agtaatggat ttccgcacac aactgataag
      661 gctctgttac agctctgacc acgaaaaact gaagcctcag tacttggaag agctacctgg
      721 acaactgaaa caattctcca tgtttctggg gaaattctca tggtttgccg gggaaaagct
      781 cacctttgtg gattttctca cctatgatat cttggatcag aaccgtatat ttgaccccaa
      841 gtgcctggat gagttcccaa acctgaaggc tttcatgtgc cgttttgagg ctttggagaa
      901 aatcgctgcc tacttacagt ctgatcagtt ctgcaagatg cccatcaaca acaagatggc
      961 ccagtggggc aacaagcctg tatgctgagc aggaggcaga cttgcagagc ttgttttgtt
     1021 tcatcctgtc cgtaaggggt cagcgctctt gctttgctct tttcaatgaa tagcacttat
     1081 gttactggtg tccagctgag tttctcttgg gtataaaggc taaaagggaa aaaggatatg
     1141 tggagaatca tcaagatatg aattgaatcg ctgcgatact ggcatttccc tactccccaa
     1201 ctgagttcaa gggctgtagg ttcatgccca agccctgaga gtgggtacta gaaaaaacga
     1261 gattgcacag ttggagagag caggtgtgtt aaatgggact ggagtccctg tgaagactgg
     1321 gtgaggataa cacaagtaaa actgtggtac tgatggactt aaccggagtt cggaaaccgt
     1381 cctgtgtaca catgggagtt tagtgtgata aaggcagtat ttcagactgg tgggctagcc
     1441 aatagagttg ggacaattgc ttactcatta aaaataatag agccccactt gacactattc
     1501 actaaaatta atctggaatt taaggcccaa cattaaacac aaagctgttg aaatattgat
     1561 gaaaatgtaa gaatttttgt gaccacgggg taggagaagt ttctttaaag acgtaaaaag
     1621 aaaaaaacca taggctgctc tgcctgtgga gtagccattc tttattcttt tactttttaa
     1681 aataataaca atcacaaagg aaagatttgc caattgaata ggatcaaatt ctacaacttt
     1741 tcctaaggca cccacaaata aatgacaagt gagacaaaaa gcactagtat aaagattata
     1801 taaagaccta taaatcatta agacaactga gtttttaaaa atggacaaaa tccatgaaca
     1861 atttataaaa tagaaatata gccaaaaatg tctaaaagat gtttatgatg taaggaatta
     1921 tcaattacaa cagtgagaaa ccatatttcc ttctatccga tgagtaaaaa gtttctaaag
     1981 tgttggcaag gcttaggaaa gtgatatgca tttcctgctg gtcaagttgt aaattagtat
     2041 agctactttg gaggacaatt gtaaaattta aatcatatcc tatgacccag caattccatg
     2101 ctataaaaac tcatccatgg ccgggcttgg tggctcacgc ctgtaatccc agcactttgg
     2161 gaggctgagg tgggcagatc acgaggtcaa gagatcgaga ccatcctggc caacatgatg
     2221 aaaccccgtt tctactaaaa atacaaaaat tagctgggca tggtggcatg tgcctatagt
     2281 cccagctact caggaggctg aggcaggaga attgcttgaa cctgggaggc agaggttgca
     2341 gtgagccgag atcacgccac tgcactccag cctggctaca gggcgagact ctgtctcaaa
     2401 aaaaaaaaaa aaaaaaaaaa aaaaacattc aaagagacat atactaagat gttcactgtg
     2461 gcattgtctg taatgacaaa taagtggaaa ccgtgtaaat acctgtcaat actatggagt
     2521 accatgtggc aacggaagaa tgagactgaa ctgtgtgaac taacatgcaa agatccccaa
     2581 aacaggccag gtgtggttgc tcacagctgt aataacaaca ccttcagagg ctgaggtgag
     2641 aggatcagtt gaggccagga gtttaagacc agcctgggca acatagtgag acccctgtct
     2701 cccaaaaatt ttttttaatt agctgtgcgc aattgctcat gcatagtccc agctacccag
     2761 gaggctgagg tgggaggatc acttgagccc aggaatttga agctgcagtg agctgtgttc
     2821 ttgccactgc actccaatct gggtgactga gcaagaccct gtctcttaaa aaaataaaaa
     2881 agatctccaa gcatagagaa gagtctggag ggaaacacca aactcataac agtcttactg
     2941 caggcaagtg ggataaaggc ccagactcca tggtggaagt taaagggcat ttccaagtta
     3001 aggctaagac ttgcttttct aactaagaga atgtgctcat gcattgcttg tgtagtagaa
     3061 actagttttt agaaaagaaa gcaaacttaa gaaacactga ctcctgtgga gatgacttgg
     3121 caccactctc ctttcacaga gcagagtctg aatagtcttc agagataggc ctgtgggcca
     3181 gattgccatc ccctatggac cagaagccaa ggatctctct agtgatggtc agagggccca
     3241 aatggcaggg atacccagtg atgtcaggag gaatagtaca gacagaaggt gctaagcaga
     3301 caattcaact gccatgtttt gccaccccct gtgagcaggg attaggtgtt caggccagta
     3361 tcttgggcat gggggagcct ttggccagaa gaggtataaa gctcagaagt ttttcagtct
     3421 gataactatt gatataattt ccatagtgtg agggagcggt atgctctacc cttgtgtatt
     3481 taaggcagga cagagaaatt gaggatgccc ctggggctag atcgatgata tgaccagaaa
     3541 tcaaaaaggg aatgcattat ttattgctgt gtaacactgt taagagagga ggtagttaag
     3601 ggatggatag gcacatagag agggaaggtc tcaggagaag ggatagaaag gaactatgtt
     3661 cacaagaaca acggcaagac agtgcctata ctgcctctac agttaatagg aaaaacggaa
     3721 gaagttaccc ttaagctagg atgttgctca gaagtgacca tcccaacttt ggtgcgggca
     3781 caataaatca gcctaaatgt ccctaattta acccagctca ttataatgtc attaaacatg
     3841 acattagcat tgtggtttta gcacccccat gggttttgct taggcactca tgggtaataa
     3901 ccaagatgga gtccctttgg caaaacttag gcatgcacag ctgtagtacc ccaagaagaa
     3961 aatgttactt ctctcatctg ggcaaaaccc acagaagact tcccagcttc tgccacataa
     4021 aagacacaga acacagacgc cttactggca acctgctttc aagacccctg tctttgctga
     4081 gagctttcct ttttcccaat aaattctact ctgccctact ca
//
LOCUS       NM_000850               1394 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens glutathione S-transferase mu 4 (GSTM4), transcript
            variant 1, mRNA.
ACCESSION   NM_000850
VERSION     NM_000850.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1394)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1394)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1394)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1394)
  AUTHORS   Dalli J, Vlasakov I, Riley IR, Rodriguez AR, Spur BW, Petasis NA,
            Chiang N and Serhan CN.
  TITLE     Maresin conjugates in tissue regeneration biosynthesis enzymes in
            human macrophages
  JOURNAL   Proc Natl Acad Sci U S A 113 (43), 12232-12237 (2016)
   PUBMED   27791009
REFERENCE   5  (bases 1 to 1394)
  AUTHORS   Bernig T, Ritz S, Brodt G, Volkmer I and Staege MS.
  TITLE     Glutathione-S-transferases and Chemotherapy Resistance of Hodgkin's
            Lymphoma Cell Lines
  JOURNAL   Anticancer Res 36 (8), 3905-3915 (2016)
   PUBMED   27466493
  REMARK    GeneRIF: Our data suggest that the combined treatment with
            chemotherapy and GST(GSTM1, GSTM4 and GSTT1 ) inhibitors such as EA
            might be an interesting option for patients with chemoresistant
            Hodgkin's lymphoma
REFERENCE   6  (bases 1 to 1394)
  AUTHORS   Comstock KE, Widersten M, Hao XY, Henner WD and Mannervik B.
  TITLE     A comparison of the enzymatic and physicochemical properties of
            human glutathione transferase M4-4 and three other human Mu class
            enzymes
  JOURNAL   Arch Biochem Biophys 311 (2), 487-495 (1994)
   PUBMED   8203914
REFERENCE   7  (bases 1 to 1394)
  AUTHORS   Ross VL, Board PG and Webb GC.
  TITLE     Chromosomal mapping of the human Mu class glutathione S-transferases
            to 1p13
  JOURNAL   Genomics 18 (1), 87-91 (1993)
   PUBMED   8276420
REFERENCE   8  (bases 1 to 1394)
  AUTHORS   Bogaards JJ, van Ommen B and van Bladeren PJ.
  TITLE     Purification and characterization of eight glutathione S-transferase
            isoenzymes of hamster. Comparison of subunit composition of enzymes
            from liver, kidney, testis, pancreas and trachea
  JOURNAL   Biochem J 286 (Pt 2) (Pt 2), 383-388 (1992)
   PUBMED   1530570
REFERENCE   9  (bases 1 to 1394)
  AUTHORS   Taylor JB, Oliver J, Sherrington R and Pemble SE.
  TITLE     Structure of human glutathione S-transferase class Mu genes
  JOURNAL   Biochem J 274 (Pt 2) (Pt 2), 587-593 (1991)
   PUBMED   2006920
REFERENCE   10  (bases 1 to 1394)
  AUTHORS   Seidegard J, Vorachek WR, Pero RW and Pearson WR.
  TITLE     Hereditary differences in the expression of the human glutathione
            transferase active on trans-stilbene oxide are due to a gene
            deletion
  JOURNAL   Proc Natl Acad Sci U S A 85 (19), 7293-7297 (1988)
   PUBMED   3174634
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.436427.1, HM005683.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369836.9/ ENSP00000358851.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA895954.1, BC108729.1 and
            AC000031.6.
            On Nov 22, 2018 this sequence version replaced NM_000850.4.
            Summary: Cytosolic and membrane-bound forms of glutathione
            S-transferase are encoded by two distinct supergene families. At
            present, eight distinct classes of the soluble cytoplasmic
            mammalian glutathione S-transferases have been identified: alpha,
            kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a
            glutathione S-transferase that belongs to the mu class. The mu
            class of enzymes functions in the detoxification of electrophilic
            compounds, including carcinogens, therapeutic drugs, environmental
            toxins and products of oxidative stress, by conjugation with
            glutathione. The genes encoding the mu class of enzymes are
            organized in a gene cluster on chromosome 1p13.3 and are known to
            be highly polymorphic. These genetic variations can change an
            individual's susceptibility to carcinogens and toxins as well as
            affect the toxicity and efficacy of certain drugs. Diversification
            of these genes has occurred in regions encoding substrate-binding
            domains, as well as in tissue expression patterns, to accommodate
            an increasing number of foreign compounds. Multiple transcript
            variants, each encoding a distinct protein isoform, have been
            identified. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1394
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..1394
                     /gene="GSTM4"
                     /gene_synonym="GSTM4-4; GTM4"
                     /note="glutathione S-transferase mu 4"
                     /db_xref="GeneID:2948"
                     /db_xref="HGNC:HGNC:4636"
                     /db_xref="MIM:138333"
     misc_feature    256..258
                     /gene="GSTM4"
                     /gene_synonym="GSTM4-4; GTM4"
                     /note="upstream in-frame stop codon"
     CDS             292..948
                     /gene="GSTM4"
                     /gene_synonym="GSTM4-4; GTM4"
                     /EC_number="2.5.1.18"
                     /EC_number="4.4.1.20"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glutathione S-alkyltransferase M4; leukotriene C4 synthase
                     GSTM4; glutathione S-transferase M4; glutathione
                     S-aryltransferase M4; S-(hydroxyalkyl)glutathione lyase M4;
                     glutathione S-aralkyltransferase M4; GTS-Mu2; GST class-mu
                     4; GST-Mu2; testis tissue sperm-binding protein Li 60n"
                     /codon_start=1
                     /product="glutathione S-transferase Mu 4 isoform 1"
                     /protein_id="NP_000841.1"
                     /db_xref="CCDS:CCDS807.1"
                     /db_xref="GeneID:2948"
                     /db_xref="HGNC:HGNC:4636"
                     /db_xref="MIM:138333"
                     /translation="MSMTLGYWDIRGLAHAIRLLLEYTDSSYEEKKYTMGDAPDYDRSQ
                     WLNEKFKLGLDFPNLPYLIDGAHKITQSNAILCYIARKHNLCGETEEEKIRVDILENQA
                     MDVSNQLARVCYSPDFEKLKPEYLEELPTMMQHFSQFLGKRPWFVGDKITFVDFLAYDV
                     LDLHRIFEPNCLDAFPNLKDFISRFEGLEKISAYMKSSRFLPKPLYTRVAVWGNK"
     regulatory      1377..1382
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSTM4"
                     /gene_synonym="GSTM4-4; GTM4"
                     /note="hexamer: AATAAA"
     polyA_site      1394
                     /gene="GSTM4"
                     /gene_synonym="GSTM4-4; GTM4"
                     /note="major polyA site"
ORIGIN
        1 ctagtgcttc cggaccttgc tccctgaaca ctcggaggtg gcggtggatc ttactccttc
       61 cagccagtga ggatccagca acctgctccg tgcctcccgc gcctgttggt tggaagtgac
      121 gaccttgaag atcggccggt tggaagtgac gaccttgaag atcggcgggc gcagcggggc
      181 cgagggggcg ggtctggcgc taggtccagc ccctgcgtgc cgggaacccc agaggaggtc
      241 gcagttcagc ccagctgagg cctgtctgca gaatcgacac caaccagcat catgtccatg
      301 acactggggt actgggacat ccgcgggctg gcccacgcca tccgcctgct cctggaatac
      361 acagactcaa gctacgagga aaagaagtat acgatggggg acgctcctga ctatgacaga
      421 agccagtggc tgaatgaaaa attcaagctg ggcctggact ttcccaatct gccctacttg
      481 attgatgggg ctcacaagat cacccagagc aacgccatcc tgtgctacat tgcccgcaag
      541 cacaacctgt gtggggagac agaagaggag aagattcgtg tggacatttt ggagaaccag
      601 gctatggacg tctccaatca gctggccaga gtctgctaca gccctgactt tgagaaactg
      661 aagccagaat acttggagga acttcctaca atgatgcagc acttctcaca gttcctgggg
      721 aagaggccat ggtttgttgg agacaagatc acctttgtag atttcctcgc ctatgatgtc
      781 cttgacctcc accgtatatt tgagcccaac tgcttggacg cctttccaaa tctgaaggac
      841 ttcatctccc gctttgaggg cttggagaag atctctgcct acatgaagtc cagccgcttc
      901 ctcccaaaac ctctgtacac aagggtggct gtctggggca acaagtaatg ccttgaaggc
      961 caggaggtgg gagtgaggag cccatactca gcctgctgcc caggctgtgc agcgcagctg
     1021 gactctgcat cccagcacct gcctcctcgt tcctttctcc tgtttattcc catctttacc
     1081 cccaagactt tattgggcct cttcacttcc cctaaacccc tgtcccatgc aggccctttg
     1141 aagcctcagc tacccacttt ccttcatgaa catccccctc ccaacactac ccttccctgc
     1201 actaaagcca gcctgacctt ccttcctgtt agtggttgta tctgctttga agggcctacc
     1261 tggcccctcg cctgtggagc tcagccctga gctgtccccg tgttgcatga cagcattgac
     1321 tggtttacag gccctgctcc tgcagcatgg cccctgcctt aggcctacct gatcaaaata
     1381 aagcctcagc caca
//
LOCUS       NM_000851               1561 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens glutathione S-transferase mu 5 (GSTM5), mRNA.
ACCESSION   NM_000851
VERSION     NM_000851.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1561)
  AUTHORS   Hao X, Zhang J, Chen G, Cao W, Chen H and Chen S.
  TITLE     Aberrant expression of GSTM5 in lung adenocarcinoma is associated
            with DNA hypermethylation and poor prognosis
  JOURNAL   BMC Cancer 22 (1), 685 (2022)
   PUBMED   35729618
  REMARK    GeneRIF: Aberrant expression of GSTM5 in lung adenocarcinoma is
            associated with DNA hypermethylation and poor prognosis. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1561)
  AUTHORS   Jou YC, Wang SC, Dia YC, Wang ST, Yu MH, Yang HY, Chen LC, Shen CH
            and Liu YW.
  TITLE     Anti-Cancer Effects and Tumor Marker Role of Glutathione
            S-Transferase Mu 5 in Human Bladder Cancer
  JOURNAL   Int J Mol Sci 22 (6), 3056 (2021)
   PUBMED   33802702
  REMARK    GeneRIF: Anti-Cancer Effects and Tumor Marker Role of Glutathione
            S-Transferase Mu 5 in Human Bladder Cancer. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1561)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1561)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1561)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 1561)
  AUTHORS   Patskovsky YV, Patskovska LN and Listowsky I.
  TITLE     An asparagine-phenylalanine substitution accounts for catalytic
            differences between hGSTM3-3 and other human class mu glutathione
            S-transferases
  JOURNAL   Biochemistry 38 (49), 16187-16194 (1999)
   PUBMED   10587441
REFERENCE   7  (bases 1 to 1561)
  AUTHORS   Xu S, Wang Y, Roe B and Pearson WR.
  TITLE     Characterization of the human class Mu glutathione S-transferase
            gene cluster and the GSTM1 deletion
  JOURNAL   J Biol Chem 273 (6), 3517-3527 (1998)
   PUBMED   9452477
REFERENCE   8  (bases 1 to 1561)
  AUTHORS   Rowe JD, Nieves E and Listowsky I.
  TITLE     Subunit diversity and tissue distribution of human glutathione
            S-transferases: interpretations based on electrospray ionization-MS
            and peptide sequence-specific antisera
  JOURNAL   Biochem J 325 (Pt 2) (Pt 2), 481-486 (1997)
   PUBMED   9230131
REFERENCE   9  (bases 1 to 1561)
  AUTHORS   Pearson WR, Vorachek WR, Xu SJ, Berger R, Hart I, Vannais D and
            Patterson D.
  TITLE     Identification of class-mu glutathione transferase genes GSTM1-GSTM5
            on human chromosome 1p13
  JOURNAL   Am J Hum Genet 53 (1), 220-233 (1993)
   PUBMED   8317488
REFERENCE   10  (bases 1 to 1561)
  AUTHORS   Takahashi Y, Campbell EA, Hirata Y, Takayama T and Listowsky I.
  TITLE     A basis for differentiating among the multiple human Mu-glutathione
            S-transferases and molecular cloning of brain GSTM5
  JOURNAL   J Biol Chem 268 (12), 8893-8898 (1993)
   PUBMED   8473333
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.68655.1,
            SRR3476690.576038.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000256593.8/ ENSP00000256593.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB089682.1, BC058881.1,
            AC000032.7 and BX281326.1.
            On Nov 23, 2018 this sequence version replaced NM_000851.3.
            Summary: Cytosolic and membrane-bound forms of glutathione
            S-transferase are encoded by two distinct supergene families. At
            present, eight distinct classes of the soluble cytoplasmic
            mammalian glutathione S-transferases have been identified: alpha,
            kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a
            glutathione S-transferase that belongs to the mu class. The mu
            class of enzymes functions in the detoxification of electrophilic
            compounds, including carcinogens, therapeutic drugs, environmental
            toxins and products of oxidative stress, by conjugation with
            glutathione. The genes encoding the mu class of enzymes are
            organized in a gene cluster on chromosome 1p13.3 and are known to
            be highly polymorphic. These genetic variations can change an
            individual's susceptibility to carcinogens and toxins as well as
            affect the toxicity and efficacy of certain drugs. Diversification
            of these genes has occurred in regions encoding substrate-binding
            domains, as well as in tissue expression patterns, to accommodate
            an increasing number of foreign compounds. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1561
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..1561
                     /gene="GSTM5"
                     /gene_synonym="GSTM5-5; GTM5"
                     /note="glutathione S-transferase mu 5"
                     /db_xref="GeneID:2949"
                     /db_xref="HGNC:HGNC:4637"
                     /db_xref="MIM:138385"
     misc_feature    27..29
                     /gene="GSTM5"
                     /gene_synonym="GSTM5-5; GTM5"
                     /note="upstream in-frame stop codon"
     CDS             63..719
                     /gene="GSTM5"
                     /gene_synonym="GSTM5-5; GTM5"
                     /EC_number="2.5.1.18"
                     /note="glutathione S-transferase M5; glutathione
                     S-alkyltransferase M5; glutathione S-aryltransferase M5;
                     S-(hydroxyalkyl)glutathione lyase M5; glutathione
                     S-aralkyltransferase M5; GST class-mu 5; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="glutathione S-transferase Mu 5"
                     /protein_id="NP_000842.2"
                     /db_xref="CCDS:CCDS811.1"
                     /db_xref="GeneID:2949"
                     /db_xref="HGNC:HGNC:4637"
                     /db_xref="MIM:138385"
                     /translation="MPMTLGYWDIRGLAHAIRLLLEYTDSSYVEKKYTLGDAPDYDRSQ
                     WLNEKFKLGLDFPNLPYLIDGAHKITQSNAILRYIARKHNLCGETEEEKIRVDILENQV
                     MDNHMELVRLCYDPDFEKLKPKYLEELPEKLKLYSEFLGKRPWFAGDKITFVDFLAYDV
                     LDMKRIFEPKCLDAFLNLKDFISRFEGLKKISAYMKSSQFLRGLLFGKSATWNSK"
     regulatory      1114..1119
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSTM5"
                     /gene_synonym="GSTM5-5; GTM5"
                     /note="hexamer: AGTAAA"
     polyA_site      1133
                     /gene="GSTM5"
                     /gene_synonym="GSTM5-5; GTM5"
                     /note="major polyA site"
     regulatory      1535..1540
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSTM5"
                     /gene_synonym="GSTM5-5; GTM5"
                     /note="hexamer: AATAAA"
     polyA_site      1561
                     /gene="GSTM5"
                     /gene_synonym="GSTM5-5; GTM5"
ORIGIN
        1 ctctcaaagt ctgagccccg ctccgctgat gcctgtctgc agaatccgca ccaaccagca
       61 ccatgcccat gactctgggg tactgggaca tccgtgggct ggcccacgcc atccgcttgc
      121 tcctggaata cacagactca agctatgtgg aaaagaagta cacgctgggg gacgctcctg
      181 actatgacag aagccagtgg ctgaatgaaa aattcaagct gggcctggac tttcccaatc
      241 tgccctactt gattgatggg gctcacaaga tcacccagag caatgccatc ctgcgctaca
      301 ttgcccgcaa gcacaacctg tgtggggaga cagaagagga gaagattcgt gtggacattt
      361 tggagaacca ggttatggat aaccacatgg agctggtcag actgtgctat gacccagatt
      421 ttgagaaact gaagccaaaa tacttggagg aactccctga aaagctaaag ctctactcag
      481 agtttctggg gaagcggcca tggtttgcag gagacaagat cacctttgtg gatttccttg
      541 cctatgatgt ccttgacatg aagcgtatat ttgagcccaa gtgcttggac gccttcctaa
      601 acttgaagga cttcatctcc cgctttgagg gtttgaagaa gatctctgcc tacatgaagt
      661 ccagccaatt cctccgaggt cttttgtttg gaaagtcagc tacatggaac agcaaatagg
      721 gcccagtgat gccagaagat gggagggagg agccaacctt gctgcctgcg accctggagg
      781 acagcctgac tccctggacc tgccttcttc ctttttcctt ctttctactc tcttctcttc
      841 cccaaggcct cattggcttc ctttcttcta acatcatccc tccccgcatc gaggctcttt
      901 aaagcttcag ctccccactg tcctccatca aagtccccct cctaacgtct tcctttccct
      961 gcactaacgc caacctgact gcttttcctg tcagtgcttt tctcttcttt gagaagccag
     1021 actgatctct gagctcccta gcactgtcct caaagaccat ctgtatgccc tgctcccttt
     1081 gctgggtccc taccccagct ccgtgtgatg cccagtaaag cctgaaccat gcctgccatg
     1141 tcttgtctta ttccctgagg ctcccttgac tcaggactgt gctcgaattg tgggtggttt
     1201 tttgtcttct gttgtccaca gccagagctt agtggatggg tgtgtgtgtg tgtgtgttgg
     1261 gggtggtgat caggcaggtt cataaatttc cttggtcatt tctgccctct agccacatcc
     1321 ctctgttcct cactgtgggg attactacag aaaggtgctc tgtgccaagt tcctcactca
     1381 ttcgcgctcc tgtaggccgt ctagaactgg catggttcaa agaggggcta ggctgatggg
     1441 gaagggggct gagcagctcc caggcagact gccttctttc accctgtcct gatagacttc
     1501 cctgatctag atatccttcg tcatgacact tctcaataaa acgtatccca ccgtattgta
     1561 a
//
LOCUS       NM_000852                741 bp    mRNA    linear   PRI 17-SEP-2023
DEFINITION  Homo sapiens glutathione S-transferase pi 1 (GSTP1), mRNA.
ACCESSION   NM_000852
VERSION     NM_000852.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 741)
  AUTHORS   Deng F, Laasik M, Salminen L, Lapatto L, Huhtinen K, Li Y,
            Hautaniemi S, Hynninen J, Niemi M and Lehtonen R.
  TITLE     Toxicity and therapy outcome associations in LIG3, SLCO1B3, ABCB1,
            OPRM1 and GSTP1 in high-grade serous ovarian cancer
  JOURNAL   Basic Clin Pharmacol Toxicol 132 (6), 521-531 (2023)
   PUBMED   36988399
  REMARK    GeneRIF: Toxicity and therapy outcome associations in LIG3, SLCO1B3,
            ABCB1, OPRM1 and GSTP1 in high-grade serous ovarian cancer.
REFERENCE   2  (bases 1 to 741)
  AUTHORS   Ullah R, Afgan S, Akhtar M, Asif M, Latif M, Mehmood R, Naeem M,
            Zahra K, Farooq M, Ben Said M and Iqbal F.
  TITLE     Absence of GSTT1 and polymorphisms in GSTP1 and TP53 are associated
            with the incidence of acne vulgaris
  JOURNAL   Skin Res Technol 29 (4), e13333 (2023)
   PUBMED   37113088
  REMARK    GeneRIF: Absence of GSTT1 and polymorphisms in GSTP1 and TP53 are
            associated with the incidence of acne vulgaris.
REFERENCE   3  (bases 1 to 741)
  AUTHORS   Wang SQ, Chen JJ, Jiang Y, Lei ZN, Ruan YC, Pan Y, Yam JWP, Wong MP
            and Xiao ZJ.
  TITLE     Targeting GSTP1 as Therapeutic Strategy against Lung Adenocarcinoma
            Stemness and Resistance to Tyrosine Kinase Inhibitors
  JOURNAL   Adv Sci (Weinh) 10 (7), e2205262 (2023)
   PUBMED   36709476
  REMARK    GeneRIF: Targeting GSTP1 as Therapeutic Strategy against Lung
            Adenocarcinoma Stemness and Resistance to Tyrosine Kinase
            Inhibitors.
REFERENCE   4  (bases 1 to 741)
  AUTHORS   Orlewska K, Klusek J, Zarebska-Michaluk D, Kocanda K, Oblap R, Cedro
            A, Witczak B, Klusek J, Sliwczynski A and Orlewska E.
  TITLE     Association between Glutathione S-Transferases Gene Variants and
            COVID-19 Severity in Previously Vaccinated and Unvaccinated Polish
            Patients with Confirmed SARS-CoV-2 Infection
  JOURNAL   Int J Environ Res Public Health 20 (4), 3752 (2023)
   PUBMED   36834445
  REMARK    GeneRIF: Association between Glutathione S-Transferases Gene
            Variants and COVID-19 Severity in Previously Vaccinated and
            Unvaccinated Polish Patients with Confirmed SARS-CoV-2 Infection.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 741)
  AUTHORS   Arshad K, Ishfaq U, Asif M, Akbar A, Pitafi KF, Mulghani MR, Shaheen
            U, Saeed S, Arif M, Bashir A, Farooq M, Brook AH and Iqbal F.
  TITLE     Association of GSTTI, M1 and Polymorphism in GSTPI with Chronic
            Periodontal Disease in a Pakistani Population
  JOURNAL   Genes (Basel) 14 (2), 455 (2023)
   PUBMED   36833382
  REMARK    GeneRIF: Association of GSTTI, M1 and Polymorphism in GSTPI with
            Chronic Periodontal Disease in a Pakistani Population. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 741)
  AUTHORS   Reinemer P, Dirr HW, Ladenstein R, Huber R, Lo Bello M, Federici G
            and Parker MW.
  TITLE     Three-dimensional structure of class pi glutathione S-transferase
            from human placenta in complex with S-hexylglutathione at 2.8 A
            resolution
  JOURNAL   J Mol Biol 227 (1), 214-226 (1992)
   PUBMED   1522586
REFERENCE   7  (bases 1 to 741)
  AUTHORS   Kong KH, Nishida M, Inoue H and Takahashi K.
  TITLE     Tyrosine-7 is an essential residue for the catalytic activity of
            human class PI glutathione S-transferase: chemical modification and
            site-directed mutagenesis studies
  JOURNAL   Biochem Biophys Res Commun 182 (3), 1122-1129 (1992)
   PUBMED   1540159
REFERENCE   8  (bases 1 to 741)
  AUTHORS   Bora PS, Bora NS, Wu XL and Lange LG.
  TITLE     Molecular cloning, sequencing, and expression of human myocardial
            fatty acid ethyl ester synthase-III cDNA
  JOURNAL   J Biol Chem 266 (25), 16774-16777 (1991)
   PUBMED   1885604
REFERENCE   9  (bases 1 to 741)
  AUTHORS   Yamamuro W, Saiki H and Sugimoto M.
  TITLE     [Distribution of glutathione S-transferase isozymes in rat small
            intestinal mucosa]
  JOURNAL   Nihon Shokakibyo Gakkai Zasshi 88 (5), 1184-1190 (1991)
   PUBMED   1880950
REFERENCE   10  (bases 1 to 741)
  AUTHORS   Hussey AJ, Kerr LA, Cronshaw AD, Harrison DJ and Hayes JD.
  TITLE     Variation in the expression of Mu-class glutathione S-transferase
            isoenzymes from human skeletal muscle. Evidence for the existence of
            heterodimers
  JOURNAL   Biochem J 273(Pt 2) (Pt 2), 323-332 (1991)
   PUBMED   1991033
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BI598748.1, BM551510.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000398606.10/ ENSP00000381607.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC010915.1 and X15480.1.
            On Aug 31, 2019 this sequence version replaced NM_000852.3.
            Summary: Glutathione S-transferases (GSTs) are a family of enzymes
            that play an important role in detoxification by catalyzing the
            conjugation of many hydrophobic and electrophilic compounds with
            reduced glutathione. Based on their biochemical, immunologic, and
            structural properties, the soluble GSTs are categorized into 4 main
            classes: alpha, mu, pi, and theta. This GST family member is a
            polymorphic gene encoding active, functionally different GSTP1
            variant proteins that are thought to function in xenobiotic
            metabolism and play a role in susceptibility to cancer, and other
            diseases. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..741
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..741
                     /gene="GSTP1"
                     /gene_synonym="DFN7; FAEES3; GST3; GSTP; HEL-S-22; PI"
                     /note="glutathione S-transferase pi 1"
                     /db_xref="GeneID:2950"
                     /db_xref="HGNC:HGNC:4638"
                     /db_xref="MIM:134660"
     CDS             33..665
                     /gene="GSTP1"
                     /gene_synonym="DFN7; FAEES3; GST3; GSTP; HEL-S-22; PI"
                     /EC_number="2.5.1.18"
                     /note="fatty acid ethyl ester synthase III; deafness,
                     X-linked 7; GSTP1-1; GST class-pi; epididymis secretory
                     protein Li 22"
                     /codon_start=1
                     /product="glutathione S-transferase P"
                     /protein_id="NP_000843.1"
                     /db_xref="CCDS:CCDS41679.1"
                     /db_xref="GeneID:2950"
                     /db_xref="HGNC:HGNC:4638"
                     /db_xref="MIM:134660"
                     /translation="MPPYTVVYFPVRGRCAALRMLLADQGQSWKEEVVTVETWQEGSLK
                     ASCLYGQLPKFQDGDLTLYQSNTILRHLGRTLGLYGKDQQEAALVDMVNDGVEDLRCKY
                     ISLIYTNYEAGKDDYVKALPGQLKPFETLLSQNQGGKTFIVGDQISFADYNLLDLLLIH
                     EVLAPGCLDAFPLLSAYVGRLSARPKLKAFLASPEYVNLPINGNGKQ"
     misc_feature    42..44
                     /gene="GSTP1"
                     /gene_synonym="DFN7; FAEES3; GST3; GSTP; HEL-S-22; PI"
                     /note="Phosphotyrosine, by EGFR.
                     /evidence=ECO:0000269|PubMed:19254954; propagated from
                     UniProtKB/Swiss-Prot (P09211.2); phosphorylation site"
     misc_feature    216..218
                     /gene="GSTP1"
                     /gene_synonym="DFN7; FAEES3; GST3; GSTP; HEL-S-22; PI"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P09211.2); phosphorylation site"
     misc_feature    414..416
                     /gene="GSTP1"
                     /gene_synonym="DFN7; FAEES3; GST3; GSTP; HEL-S-22; PI"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P09211.2); acetylation site"
     misc_feature    627..629
                     /gene="GSTP1"
                     /gene_synonym="DFN7; FAEES3; GST3; GSTP; HEL-S-22; PI"
                     /note="Phosphotyrosine, by EGFR.
                     /evidence=ECO:0000269|PubMed:19254954; propagated from
                     UniProtKB/Swiss-Prot (P09211.2); phosphorylation site"
     misc_feature    720..725
                     /gene="GSTP1"
                     /gene_synonym="DFN7; FAEES3; GST3; GSTP; HEL-S-22; PI"
                     /note="polyadenylation signal"
     regulatory      720..725
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSTP1"
                     /gene_synonym="DFN7; FAEES3; GST3; GSTP; HEL-S-22; PI"
                     /note="hexamer: AATAAA"
     polyA_site      741
                     /gene="GSTP1"
                     /gene_synonym="DFN7; FAEES3; GST3; GSTP; HEL-S-22; PI"
                     /note="major polyA site"
ORIGIN
        1 gctggagttt cgccgccgca gtcttcgcca ccatgccgcc ctacaccgtg gtctatttcc
       61 cagttcgagg ccgctgcgcg gccctgcgca tgctgctggc agatcagggc cagagctgga
      121 aggaggaggt ggtgaccgtg gagacgtggc aggagggctc actcaaagcc tcctgcctat
      181 acgggcagct ccccaagttc caggacggag acctcaccct gtaccagtcc aataccatcc
      241 tgcgtcacct gggccgcacc cttgggctct atgggaagga ccagcaggag gcagccctgg
      301 tggacatggt gaatgacggc gtggaggacc tccgctgcaa atacatctcc ctcatctaca
      361 ccaactatga ggcgggcaag gatgactatg tgaaggcact gcccgggcaa ctgaagcctt
      421 ttgagaccct gctgtcccag aaccagggag gcaagacctt cattgtggga gaccagatct
      481 ccttcgctga ctacaacctg ctggacttgc tgctgatcca tgaggtccta gcccctggct
      541 gcctggatgc gttccccctg ctctcagcat atgtggggcg cctcagtgcc cggcccaagc
      601 tcaaggcctt cctggcctcc cctgagtacg tgaacctccc catcaatggc aacgggaaac
      661 agtgagggtt ggggggactc tgagcgggag gcagagtttg ccttcctttc tccaggacca
      721 ataaaatttc taagagagct a
//
LOCUS       NM_000853               1047 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens glutathione S-transferase theta 1 (GSTT1), transcript
            variant 1, mRNA.
ACCESSION   NM_000853
VERSION     NM_000853.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1047)
  AUTHORS   Li L, Wang A and Ke Y.
  TITLE     GSTM1 and GSTT1 polymorphisms and risk of preeclampsia: a system
            review and meta-analysis
  JOURNAL   J Matern Fetal Neonatal Med 36 (2), 2237623 (2023)
   PUBMED   37469043
  REMARK    GeneRIF: GSTM1 and GSTT1 polymorphisms and risk of preeclampsia: a
            system review and meta-analysis.
REFERENCE   2  (bases 1 to 1047)
  AUTHORS   Muro-Perez M, Gonzalez-Martinez G, Martinez-Garcia P, Legaz I,
            Zafrilla P and Muro M.
  TITLE     Analysis of null deletion polymorphism of glutathione S-transferase
            theta (GSTT-1), associated with anti-GSTT-1 antibodies development
            in transplantation
  JOURNAL   Int J Immunogenet 50 (5), 264-271 (2023)
   PUBMED   37612787
  REMARK    GeneRIF: Analysis of null deletion polymorphism of glutathione
            S-transferase theta (GSTT-1), associated with anti-GSTT-1 antibodies
            development in transplantation.
REFERENCE   3  (bases 1 to 1047)
  AUTHORS   Yang W, Liu W, Zhu L, Lin Y, Meng Z and Wang Y.
  TITLE     Association Between the XRCC1, GSTM1, and GSTT1 Polymorphisms in
            Model of Thyroid Cancer: A Meta-Analysis
  JOURNAL   Horm Metab Res 55 (9), 625-633 (2023)
   PUBMED   37678329
  REMARK    GeneRIF: Association Between the XRCC1, GSTM1, and GSTT1
            Polymorphisms in Model of Thyroid Cancer: A Meta-Analysis.
REFERENCE   4  (bases 1 to 1047)
  AUTHORS   Sobha SP and Kesavarao KE.
  TITLE     Progonostic effect of GSTM1/GSTT1 polymorphism in determining
            cardiovascular diseases risk among type 2 diabetes patients in South
            Indian population
  JOURNAL   Mol Biol Rep 50 (8), 6415-6423 (2023)
   PUBMED   37326751
  REMARK    GeneRIF: Progonostic effect of GSTM1/GSTT1 polymorphism in
            determining cardiovascular diseases risk among type 2 diabetes
            patients in South Indian population.
REFERENCE   5  (bases 1 to 1047)
  AUTHORS   Bauer M, Herbarth O, Aust G, Hengstler JG, Dotzauer A, Graebsch C
            and Schmuecking E.
  TITLE     Expression patterns and novel splicing variants of
            glutathione-S-transferase isoenzymes of human lung and hepatocyte
            cell lines
  JOURNAL   Cell Tissue Res 324 (3), 423-432 (2006)
   PUBMED   16501997
REFERENCE   6  (bases 1 to 1047)
  AUTHORS   Webb G, Vaska V, Coggan M and Board P.
  TITLE     Chromosomal localization of the gene for the human theta class
            glutathione transferase (GSTT1)
  JOURNAL   Genomics 33 (1), 121-123 (1996)
   PUBMED   8617495
REFERENCE   7  (bases 1 to 1047)
  AUTHORS   Chen H, Sandler DP, Taylor JA, Shore DL, Liu E, Bloomfield CD and
            Bell DA.
  TITLE     Increased risk for myelodysplastic syndromes in individuals with
            glutathione transferase theta 1 (GSTT1) gene defect
  JOURNAL   Lancet 347 (8997), 295-297 (1996)
   PUBMED   8569364
REFERENCE   8  (bases 1 to 1047)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH,
            Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   9  (bases 1 to 1047)
  AUTHORS   Pemble S, Schroeder KR, Spencer SR, Meyer DJ, Hallier E, Bolt HM,
            Ketterer B and Taylor JB.
  TITLE     Human glutathione S-transferase theta (GSTT1): cDNA cloning and the
            characterization of a genetic polymorphism
  JOURNAL   Biochem J 300 (Pt 1) (Pt 1), 271-276 (1994)
   PUBMED   8198545
REFERENCE   10  (bases 1 to 1047)
  AUTHORS   Meyer DJ, Coles B, Pemble SE, Gilmore KS, Fraser GM and Ketterer B.
  TITLE     Theta, a new class of glutathione transferases purified from rat and
            man
  JOURNAL   Biochem J 274 (Pt 2) (Pt 2), 409-414 (1991)
   PUBMED   1848757
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC007065.1, CD250224.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            RefSeq Select criteria      :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000351.3.
            On Mar 1, 2023 this sequence version replaced NM_000853.3.
            Summary: The protein encoded by this gene, glutathione
            S-transferase (GST) theta 1 (GSTT1), is a member of a superfamily
            of proteins that catalyze the conjugation of reduced glutathione to
            a variety of electrophilic and hydrophobic compounds. Human GSTs
            can be divided into five main classes: alpha, mu, pi, theta, and
            zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT1 and
            GSTT2/GSTT2B share 55% amino acid sequence identity and may play a
            role in human carcinogenesis. The GSTT1 gene is haplotype-specific
            and is absent from 38% of the population. Alternative splicing of
            this gene results in multiple transcript variants. [provided by
            RefSeq, Sep 2015].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1047
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     gene            1..1047
                     /gene="GSTT1"
                     /note="glutathione S-transferase theta 1"
                     /db_xref="GeneID:2952"
                     /db_xref="HGNC:HGNC:4641"
                     /db_xref="MIM:600436"
     CDS             41..763
                     /gene="GSTT1"
                     /EC_number="2.5.1.18"
                     /note="isoform a is encoded by transcript variant 1; GST
                     class-theta-1; glutathione transferase T1-1"
                     /codon_start=1
                     /product="glutathione S-transferase theta-1 isoform a"
                     /protein_id="NP_000844.2"
                     /db_xref="GeneID:2952"
                     /db_xref="HGNC:HGNC:4641"
                     /db_xref="MIM:600436"
                     /translation="MGLELYLDLLSQPCRAVYIFAKKNDIPFELRIVDLIKGQHLSDAF
                     AQVNPLKKVPALKDGDFTLTESVAILLYLTRKYKVPDYWYPQDLQARARVDEYLAWQHT
                     TLRRSCLRALWHKVMFPVFLGEPVSPQTLAATLAELDVTLQLLEDKFLQNKAFLTGPHI
                     SLADLVAITELMHPVGAGCQVFEGRPKLATWRQRVEAAVGEDLFQEAHEVILKAKDFPP
                     ADPTIKQKLMPWVLAMIR"
ORIGIN
        1 gactccctct ggtttccggt caggtcggtc ggtccccact atgggcctgg agctgtacct
       61 ggacctgctg tcccagccct gccgcgctgt ttacatcttt gccaagaaga acgacattcc
      121 cttcgagctg cgcatcgtgg atctgattaa aggtcagcac ttaagcgatg cctttgccca
      181 ggtgaacccc ctcaagaagg tgccagcctt gaaggacggg gacttcacct tgacggagag
      241 tgtggccatc ctgctctacc tgacgcgcaa atataaggtc cctgactact ggtaccctca
      301 ggacctgcag gcccgtgccc gtgtggatga gtacctggca tggcagcaca cgactctgcg
      361 gagaagctgc ctccgggcct tgtggcataa ggtgatgttc cctgttttcc tgggtgagcc
      421 agtatctccc cagacactgg cagccaccct ggcagagttg gatgtgaccc tgcagttgct
      481 cgaggacaag ttcctccaga acaaggcctt ccttactggt cctcacatct ccttagctga
      541 cctcgtagcc atcacggagc tgatgcatcc cgtgggtgct ggctgccaag tcttcgaagg
      601 ccgacccaag ctggccacat ggcggcagcg cgtggaggca gcagtggggg aggacctctt
      661 ccaggaggcc catgaggtca ttctgaaggc caaggacttc ccacctgcag accccaccat
      721 aaagcagaag ctgatgccct gggtgctggc catgatccgg tgagctggga aacctcaccc
      781 ttgcaccgtc ctcagcagtc cacaaagcat tttcatttct aatggcccat gggagccagg
      841 cccagaaagc aggaatggct tgcctaagac ttgcccaagt cccagagcac ctcacctccc
      901 gaagccacca tccccaccct gtcttccaca gccgcctgaa agccacaatg agaatgatgc
      961 acactgaggc cttgtgtcct ttaatcactg catttcattt tgattttgga taataaacct
     1021 gggctcagcc tgagcctctg cttctaa
//
LOCUS       NM_000854               1108 bp    mRNA    linear   PRI 18-JUL-2023
DEFINITION  Homo sapiens glutathione S-transferase theta 2 (gene/pseudogene)
            (GSTT2), transcript variant 1, coding, mRNA.
ACCESSION   NM_000854
VERSION     NM_000854.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1108)
  AUTHORS   Weh KM, Turgeon DK, Rubenstein JH, Clarke JL, Howell AB, Chang AC
            and Kresty LA.
  TITLE     Proanthocyanidins mitigate bile acid-induced changes in GSTT2 levels
            in a panel of racially diverse patient-derived primary esophageal
            cell cultures
  JOURNAL   Mol Carcinog 61 (3), 281-287 (2022)
   PUBMED   34758158
  REMARK    GeneRIF: Proanthocyanidins mitigate bile acid-induced changes in
            GSTT2 levels in a panel of racially diverse patient-derived primary
            esophageal cell cultures.
REFERENCE   2  (bases 1 to 1108)
  AUTHORS   Ferrer-Torres D, Nancarrow DJ, Steinberg H, Wang Z, Kuick R, Weh KM,
            Mills RE, Ray D, Ray P, Lin J, Chang AC, Reddy RM, Orringer MB,
            Canto MI, Shaheen NJ, Kresty LA, Chak A, Wang TD, Rubenstein JH and
            Beer DG.
  TITLE     Constitutively Higher Level of GSTT2 in Esophageal Tissues From
            African Americans Protects Cells Against DNA Damage
  JOURNAL   Gastroenterology 156 (5), 1404-1415 (2019)
   PUBMED   30578782
  REMARK    GeneRIF: Increased levels of GSTT2 in esophageal tissues of African
            American individuals might protect them from GERD-induced damage and
            contribute to the low incidence of esophageal adenocarcinoma in this
            population.
REFERENCE   3  (bases 1 to 1108)
  AUTHORS   Butler MW, Hackett NR, Salit J, Strulovici-Barel Y, Omberg L, Mezey
            J and Crystal RG.
  TITLE     Glutathione S-transferase copy number variation alters lung gene
            expression
  JOURNAL   Eur Respir J 38 (1), 15-28 (2011)
   PUBMED   21349909
  REMARK    GeneRIF: analysis of glutathione S-transferase copy number variation
            alters lung gene expression
REFERENCE   4  (bases 1 to 1108)
  AUTHORS   Miene C, Weise A and Glei M.
  TITLE     Impact of polyphenol metabolites produced by colonic microbiota on
            expression of COX-2 and GSTT2 in human colon cells (LT97)
  JOURNAL   Nutr Cancer 63 (4), 653-662 (2011)
   PUBMED   21598179
  REMARK    GeneRIF: Polyphenol metabolites did not affect cell number but
            significantly upregulated GSTT2 expression and decreased COX-2.
REFERENCE   5  (bases 1 to 1108)
  AUTHORS   Zhao Y, Marotta M, Eichler EE, Eng C and Tanaka H.
  TITLE     Linkage disequilibrium between two high-frequency deletion
            polymorphisms: implications for association studies involving the
            glutathione-S transferase (GST) genes
  JOURNAL   PLoS Genet 5 (5), e1000472 (2009)
   PUBMED   19424424
REFERENCE   6  (bases 1 to 1108)
  AUTHORS   Coggan M, Whitbread L, Whittington A and Board P.
  TITLE     Structure and organization of the human theta-class glutathione
            S-transferase and D-dopachrome tautomerase gene complex
  JOURNAL   Biochem J 334 (Pt 3) (Pt 3), 617-623 (1998)
   PUBMED   9729470
REFERENCE   7  (bases 1 to 1108)
  AUTHORS   Webb G, Vaska V, Coggan M and Board P.
  TITLE     Chromosomal localization of the gene for the human theta class
            glutathione transferase (GSTT1)
  JOURNAL   Genomics 33 (1), 121-123 (1996)
   PUBMED   8617495
REFERENCE   8  (bases 1 to 1108)
  AUTHORS   Whittington AT, Webb GC, Baker RT and Board PG.
  TITLE     Characterization of a cDNA and gene encoding the mouse theta class
            glutathione transferase mGSTT2 and its localization to chromosome
            10B5-C1
  JOURNAL   Genomics 33 (1), 105-111 (1996)
   PUBMED   8617493
REFERENCE   9  (bases 1 to 1108)
  AUTHORS   Tan KL, Webb GC, Baker RT and Board PG.
  TITLE     Molecular cloning of a cDNA and chromosomal localization of a human
            theta-class glutathione S-transferase gene (GSTT2) to chromosome 22
  JOURNAL   Genomics 25 (2), 381-387 (1995)
   PUBMED   7789971
REFERENCE   10  (bases 1 to 1108)
  AUTHORS   Hussey AJ and Hayes JD.
  TITLE     Characterization of a human class-Theta glutathione S-transferase
            with activity towards 1-menaphthyl sulphate
  JOURNAL   Biochem J 286 (Pt 3) (Pt 3), 929-935 (1992)
   PUBMED   1417752
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            polymorphic pseudogene    :: PMID: 19424424
            RefSeq Select criteria :: based on manual assertion, expression,
            longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000351.3.
            On Feb 27, 2023 this sequence version replaced NM_000854.4.
            Summary: The protein encoded by this gene, glutathione
            S-transferase (GST) theta 2 (GSTT2), is a member of a superfamily
            of proteins that catalyze the conjugation of reduced glutathione to
            a variety of electrophilic and hydrophobic compounds. Human GSTs
            can be divided into five main classes: alpha, mu, pi, theta, and
            zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and
            GSTT2B are nearly identical to each other, and share 55% amino acid
            identity with GSTT1. All three genes may play a role in human
            carcinogenesis. The GSTT2 gene is a pseudogene in some populations.
            [provided by RefSeq, Sep 2015].
            Transcript Variant: This variant (1, coding) encodes the longer
            isoform (a). This variant represents the ALT_REF_LOCI_1 alternate
            haplotype in the GRCh38 reference genome assembly.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1108
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     gene            1..1108
                     /gene="GSTT2"
                     /note="glutathione S-transferase theta 2 (gene/pseudogene)"
                     /db_xref="GeneID:2953"
                     /db_xref="HGNC:HGNC:4642"
                     /db_xref="MIM:600437"
     CDS             65..799
                     /gene="GSTT2"
                     /EC_number="2.5.1.18"
                     /note="isoform a is encoded by transcript variant 1,
                     coding; glutathione S-transferase theta-2; GST
                     class-theta-2"
                     /codon_start=1
                     /product="glutathione S-transferase theta-2 isoform a"
                     /protein_id="NP_000845.2"
                     /db_xref="GeneID:2953"
                     /db_xref="HGNC:HGNC:4642"
                     /db_xref="MIM:600437"
                     /translation="MGLELFLDLVSQPSRAVYIFAKKNGIPLELRTVDLVKGQHKSKEF
                     LQINSLGKLPTLKDGDFILTESSAILIYLSCKYQTPDHWYPSDLQARARVHEYLGWHAD
                     CIRGTFGIPLWVQVLGPLIGVQVPKEKVERNRTAMDQALQWLEDKFLGDRPFLAGQQVT
                     LADLMALEELMQPVALGYELFEGRPRLAAWRGRVEAFLGAELCQEAHSIILSILEQAAK
                     KTLPTPSPEAYQAMLLRIARIP"
     regulatory      1078..1083
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSTT2"
                     /note="hexamer: AATAAA"
     polyA_site      1108
                     /gene="GSTT2"
                     /note="major polyA site"
ORIGIN
        1 agctgctgcc cacaccgcgc tcagcgcctt cactgccatc cccgctgtcc ttgccgcccc
       61 cgccatgggc ctagagctgt ttcttgacct ggtgtcccag cccagccgcg ccgtctacat
      121 cttcgccaag aagaatggca tccccttaga gctgcgcacc gtggatttgg tcaaagggca
      181 gcacaagagc aaggagttct tgcagatcaa cagcctgggg aaactgccga cgctcaagga
      241 tggtgatttc atcttgaccg aaagctcggc catcctgatt tacctgagct gtaagtacca
      301 gacgccggac cactggtatc catctgacct gcaggctcgt gcccgtgttc atgagtacct
      361 gggctggcat gccgactgca tccgtggcac ctttggtata cccctgtggg tccaggtgtt
      421 ggggccactc attggggtcc aggtgcccaa ggagaaggtg gaacgcaaca ggactgccat
      481 ggaccaggcc ctgcaatggc tggaggacaa gttcctgggg gacaggccct tcctcgctgg
      541 ccagcaggtg acactggctg atctcatggc cctggaggag ctgatgcagc cggtggctct
      601 cggctatgaa ctgtttgagg gacggccacg actggcagca tggcgtggac gagtggaggc
      661 tttcctgggt gctgagctat gccaggaggc ccacagcatc atcttgagca tcctggaaca
      721 ggcggccaag aaaaccctcc caacaccctc accagaggcc tatcaggcta tgctgcttcg
      781 aatcgccagg atcccctgaa gggtctggga tgggggccag gagattagca acaaggattc
      841 attctgttac ttacttgccc ctttttatct ttccctcttg ccccagtccc ttctctccag
      901 cttcatgtga agctctgcac agacaagaca ctcagtgtcc ttggcagtgc tgctactcct
      961 caggtgcagc atacataacc agtaagagac taaatctgca atatataaag agctcctaca
     1021 aatcagtaac atgaagaaca ctcaaaaatt ggcaaatgtc atcagtgttt taaacagaat
     1081 aaagattcca aacactttga atagagaa
//
LOCUS       NM_000855              16150 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens guanylate cyclase 1 soluble subunit alpha 2 (GUCY1A2),
            transcript variant 2, mRNA.
ACCESSION   NM_000855
VERSION     NM_000855.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 16150)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 16150)
  AUTHORS   Sundell GN, Arnold R, Ali M, Naksukpaiboon P, Orts J, Guntert P, Chi
            CN and Ivarsson Y.
  TITLE     Proteome-wide analysis of phospho-regulated PDZ domain interactions
  JOURNAL   Mol Syst Biol 14 (8), e8129 (2018)
   PUBMED   30126976
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 16150)
  AUTHORS   Otowa T, Maher BS, Aggen SH, McClay JL, van den Oord EJ and Hettema
            JM.
  TITLE     Genome-wide and gene-based association studies of anxiety disorders
            in European and African American samples
  JOURNAL   PLoS One 9 (11), e112559 (2014)
   PUBMED   25390645
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 16150)
  AUTHORS   Seeger F, Quintyn R, Tanimoto A, Williams GJ, Tainer JA, Wysocki VH
            and Garcin ED.
  TITLE     Interfacial residues promote an optimal alignment of the catalytic
            center in human soluble guanylate cyclase: heterodimerization is
            required but not sufficient for activity
  JOURNAL   Biochemistry 53 (13), 2153-2165 (2014)
   PUBMED   24669844
  REMARK    GeneRIF: The data support a novel regulatory mechanism whereby sGC
            activity is tuned by distinct domain interactions that either
            promote or inhibit catalytic activity.
REFERENCE   5  (bases 1 to 16150)
  AUTHORS   Ivarsson Y, Arnold R, McLaughlin M, Nim S, Joshi R, Ray D, Liu B,
            Teyra J, Pawson T, Moffat J, Li SS, Sidhu SS and Kim PM.
  TITLE     Large-scale interaction profiling of PDZ domains through proteomic
            peptide-phage display using human and viral phage peptidomes
  JOURNAL   Proc Natl Acad Sci U S A 111 (7), 2542-2547 (2014)
   PUBMED   24550280
REFERENCE   6  (bases 1 to 16150)
  AUTHORS   Bamberger AM, Koglin M, Kempfert J, Loning T, Scholz H and Behrends
            S.
  TITLE     Expression and tissue localization of soluble guanylyl cyclase in
            the human placenta using novel antibodies directed against the
            alpha(2) subunit
  JOURNAL   J Clin Endocrinol Metab 86 (2), 909-912 (2001)
   PUBMED   11158065
REFERENCE   7  (bases 1 to 16150)
  AUTHORS   Budworth J, Meillerais S, Charles I and Powell K.
  TITLE     Tissue distribution of the human soluble guanylate cyclases
  JOURNAL   Biochem Biophys Res Commun 263 (3), 696-701 (1999)
   PUBMED   10512742
REFERENCE   8  (bases 1 to 16150)
  AUTHORS   Yu F, Warburton D, Wellington S and Danziger RS.
  TITLE     Assignment of GUCIA2, the gene coding for the alpha 2 subunit of
            soluble guanylyl cyclase, to position 11q21-q22 on human chromosome
            11
  JOURNAL   Genomics 33 (2), 334-336 (1996)
   PUBMED   8660992
REFERENCE   9  (bases 1 to 16150)
  AUTHORS   Behrends S, Harteneck C, Schultz G and Koesling D.
  TITLE     A variant of the alpha 2 subunit of soluble guanylyl cyclase
            contains an insert homologous to a region within adenylyl cyclases
            and functions as a dominant negative protein
  JOURNAL   J Biol Chem 270 (36), 21109-21113 (1995)
   PUBMED   7673142
REFERENCE   10  (bases 1 to 16150)
  AUTHORS   Harteneck C, Wedel B, Koesling D, Malkewitz J, Bohme E and Schultz
            G.
  TITLE     Molecular cloning and expression of a new alpha-subunit of soluble
            guanylyl cyclase. Interchangeability of the alpha-subunits of the
            enzyme
  JOURNAL   FEBS Lett 292 (1-2), 217-222 (1991)
   PUBMED   1683630
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X63282.1, BC130488.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000526355.7/ ENSP00000431245.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003078.2, X63282.1,
            AP005014.3 and CA774108.1.
            On Jun 2, 2019 this sequence version replaced NM_000855.2.
            Summary: Soluble guanylate cyclases are heterodimeric proteins that
            catalyze the conversion of GTP to 3',5'-cyclic GMP and
            pyrophosphate. The protein encoded by this gene is an alpha subunit
            of this complex and it interacts with a beta subunit to form the
            guanylate cyclase enzyme, which is activated by nitric oxide. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jan 2012].
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (2) has the same
            N- and C-termini but is shorter compared to isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..16150
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.3"
     gene            1..16150
                     /gene="GUCY1A2"
                     /gene_synonym="GC-SA2; GUC1A2"
                     /note="guanylate cyclase 1 soluble subunit alpha 2"
                     /db_xref="GeneID:2977"
                     /db_xref="HGNC:HGNC:4684"
                     /db_xref="MIM:601244"
     misc_feature    242..244
                     /gene="GUCY1A2"
                     /gene_synonym="GC-SA2; GUC1A2"
                     /note="upstream in-frame stop codon"
     CDS             422..2620
                     /gene="GUCY1A2"
                     /gene_synonym="GC-SA2; GUC1A2"
                     /EC_number="4.6.1.2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     guanylate cyclase soluble subunit alpha-2; GCS-alpha-2;
                     guanylate cyclase 1, soluble, alpha 2"
                     /codon_start=1
                     /product="guanylate cyclase soluble subunit alpha-2 isoform
                     2"
                     /protein_id="NP_000846.1"
                     /db_xref="CCDS:CCDS8335.1"
                     /db_xref="GeneID:2977"
                     /db_xref="HGNC:HGNC:4684"
                     /db_xref="MIM:601244"
                     /translation="MSRRKISSESFSSLGSDYLETSPEEEGECPLSRLCWNGSRSPPGP
                     LEPSPAAAAAAAAPAPTPAASAAAAAATAGARRVQRRRRVNLDSLGESISRLTAPSPQT
                     IQQTLKRTLQYYEHQVIGYRDAEKNFHNISNRCSYADHSNKEEIEDVSGILQCTANILG
                     LKFEEIQKRFGEEFFNICFHENERVLRAVGGTLQDFFNGFDALLEHIRTSFGKQATLES
                     PSFLCKELPEGTLMLHYFHPHHIVGFAMLGMIKAAGKKIYRLDVEVEQVANEKLCSDVS
                     NPGNCSCLTFLIKECENTNIMKNLPQGTSQVPADLRISINTFCRAFPFHLMFDPSMSVL
                     QLGEGLRKQLRCDTHKVLKFEDCFEIVSPKVNATFERVLLRLSTPFVIRTKPEASGSEN
                     KDKVMEVKGQMIHVPESNSILFLGSPCVDKLDELMGRGLHLSDIPIHDATRDVILVGEQ
                     AKAQDGLKKRMDKLKATLERTHQALEEEKKKTVDLLYSIFPGDVAQQLWQGQQVQARKF
                     DDVTMLFSDIVGFTAICAQCTPMQVISMLNELYTRFDHQCGFLDIYKVETIGDAYCVAA
                     GLHRKSLCHAKPIALMALKMMELSEEVLTPDGRPIQMRIGIHSGSVLAGVVGVRMPRYC
                     LFGNNVTLASKFESGSHPRRINVSPTTYQLLKREESFTFIPRSREELPDNFPKEIPGIC
                     YFLEVRTGPKPPKPSLSSSRIKKVSYNIGTMFLRETSL"
     misc_feature    422..595
                     /gene="GUCY1A2"
                     /gene_synonym="GC-SA2; GUC1A2"
                     /note="propagated from UniProtKB/Swiss-Prot (P33402.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2792..2797
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GUCY1A2"
                     /gene_synonym="GC-SA2; GUC1A2"
                     /note="hexamer: AATAAA"
     polyA_site      2817
                     /gene="GUCY1A2"
                     /gene_synonym="GC-SA2; GUC1A2"
     regulatory      16130..16135
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GUCY1A2"
                     /gene_synonym="GC-SA2; GUC1A2"
                     /note="hexamer: AATAAA"
     polyA_site      16150
                     /gene="GUCY1A2"
                     /gene_synonym="GC-SA2; GUC1A2"
                     /note="major polyA site"
ORIGIN
        1 agaagcctct gcctctgcct ccccttctgc ttgggccgca gccctccccg ccccgccgac
       61 cgcggtcaca cactctcgga gcctccccgt gagcgggagc gcggcgcacg gcgatgcgcc
      121 gaggcgggcg ctgaggcggc gccgcgcgag cagcagcaga ggcggcggcg gcccccagcc
      181 cagcccggcg ccgccgccga gcccgggccc caaggtgcgg cggcgcccca agttcccgcc
      241 atgagcagcc ggctcggggg gctccgcggc cccggggact cccgccccgc cgggcgcgac
      301 cgcagcgccc cgcggccccg acgcgcttaa cgttgtcgct tgccggtccc gccaccgccg
      361 cctccgccgc cgctcgcgtc ctcgccgcca ccgcctcggc cgctgcagct ccgccggcag
      421 catgtctcga aggaagattt cgtccgagtc cttcagctcc ctgggctccg actacctgga
      481 gaccagcccg gaggaggagg gggagtgccc cctgtctagg ctctgctgga atggcagccg
      541 gagcccgccc gggccgctgg agcccagccc ggccgcagct gccgctgccg ccgccccggc
      601 cccgaccccg gctgcttctg ccgccgccgc cgctgccact gccggggcca ggagggtgca
      661 gcgccggagg cgggtcaacc tggactcgct gggcgagagc atcagccgcc tgacggcgcc
      721 ctcgcctcag acgatacagc agactctcaa gaggacactg cagtattatg aacatcaagt
      781 tattggttac agggatgcag aaaagaattt ccacaatatc tctaacagat gctcctatgc
      841 agaccactcc aacaaagaag aaattgaaga tgtctcagga attcttcagt gtactgctaa
      901 tatactcggt ttgaagtttg aggaaattca aaaaagattt ggtgaagagt tctttaatat
      961 atgctttcat gagaatgaga gagtccttcg agctgtaggt ggcactttgc aggacttttt
     1021 taacggcttt gatgctttgt tggaacacat tagaacttct tttggaaaac aggccactct
     1081 ggagtcacca tctttcctat gcaaagagct ccctgaaggt actctcatgc tccactactt
     1141 ccaccctcac catattgtgg ggtttgcaat gctggggatg attaaggctg caggaaagaa
     1201 gatctatcgg ctggatgtgg aagtggaaca ggttgcaaat gagaagctat gctctgatgt
     1261 ttcaaaccca ggcaattgta gctgtcttac tttccttatc aaagaatgtg aaaatactaa
     1321 tatcatgaag aaccttccac agggaacctc ccaagttcct gcggacctca gaattagcat
     1381 caacaccttc tgtagagcct tccctttcca cttgatgttt gatcccagca tgtcagtcct
     1441 tcagttgggg gaaggtctaa ggaagcagct tcgatgtgac actcacaaag tgctcaagtt
     1501 tgaggactgc ttcgagattg tatctccaaa ggttaatgcc acctttgaaa gggtcctgct
     1561 gcgactgtct accccgtttg tgattagaac caagcctgag gcttctggct ctgaaaataa
     1621 agacaaggtg atggaagtca aaggacaaat gatccatgtt ccagaatcaa attccatttt
     1681 atttttgggc tctccatgtg tggacaagtt ggatgaactc atgggccgag ggctacatct
     1741 ctcagacatc cctatccatg atgccacccg agatgtcatt ttggttggtg agcaggcaaa
     1801 ggcccaagat gggttgaaga aaaggatgga taaattaaag gcaactttag aaagaactca
     1861 ccaggccctg gaagaagaga aaaagaagac agtggatctt ctatattcta ttttccctgg
     1921 tgatgtagcc cagcaattat ggcaagggca gcaagtacag gccagaaagt ttgatgatgt
     1981 caccatgctc ttttcagaca ttgttggctt cacagccata tgtgcccagt gtactcccat
     2041 gcaagtaatc agcatgctga atgaactgta caccagattt gaccaccagt gtggattttt
     2101 ggatatttat aaggtggaaa caataggtga tgcctactgt gttgcagcag ggctccacag
     2161 aaaaagcctc tgccatgcta aacccattgc tctgatggcc ttgaagatga tggaactttc
     2221 agaagaggtg ctgacacctg atggaagacc gattcagatg aggataggaa ttcactcagg
     2281 ctccgtgctg gctggagttg ttggggtgcg aatgccacgt tattgcctgt ttggaaataa
     2341 tgtcacactg gcaagcaaat tcgagtcggg aagtcaccct cggcgcatca atgtcagccc
     2401 aaccacttac caattattaa aacgagaaga aagtttcaca ttcattccgc ggtctcgtga
     2461 agagcttcca gacaactttc caaaggaaat tcctgggatc tgctatttcc tggaggtaag
     2521 gactggtcca aagccaccaa agccttctct ttcttcgtcg agaataaaaa aggtttccta
     2581 caacatcggc accatgttcc tccgggagac aagcctctga gacctgctac agatcaaaga
     2641 ctcctccaaa aagcacaagc ccagaacatg ggtcaccaat ggggggtgga aagagattgt
     2701 gtctctttca ttgctttgtt gagaacaagc agcaaaattt ctgtattatg tcaggcaata
     2761 atcctactaa aaggtggagg tgaccgctgt caataaaaag ccggaggatg agggaaataa
     2821 gatgtgtcca ttcatatgag tggttttggt catatatata cacatatatt ttaattacaa
     2881 gtgtgggtcc cctttcagaa ctaaccaata aatagattcc atgttttctt gtttatcaca
     2941 catacaagta tctttcccta tatatttgta ccacttttga gagccagttt tgattatata
     3001 ttcctacatt tagtgagttg gtgggtgagg aatattttct aagtttcttt ttctgaacag
     3061 acatttcata catgtatcat ggcagtgtgg taaacttccc aactggaaga attgtaactc
     3121 ggcaaaatat tttagggata ttacctattt ttatacatat ctcttctaga taactacatt
     3181 tcgcacaaca ttattagatt ttcagaatct gcttctgtat tgttagtata ttatatataa
     3241 tgctaaccta ttaatctaat atagtttccc ttatttagag agatcagtgc ttcgactgag
     3301 aatacatata accaaggatt tcagatacca agaaagcatt atatgtctgc ttagtaaata
     3361 tatcttttag atttaactaa tgtagcatgg aatccagagg aaatggaatt tcctaacacc
     3421 agatgtatct gtaaccaaga ttaaagaaag gtctttttgc caccttctaa caaatatcag
     3481 ttaaaatgaa atgctttgct acactggatc cttttcaact tagcacttac aaatataggt
     3541 agcttttgca acactaaact gcattctaat aaacagcatt cagctaaatg acatgttagt
     3601 tacccccttc ctcttcccca gttgatgcct cctaagagcc gactgctatt cttgagaaca
     3661 aattcctgga tactggcatt agtgacaaag aagtgtcagg acagtttgcc aagaatgttg
     3721 tttcttcttg tacaacacaa agcaaggaaa cctctgtatt ttatggcttt gaggttttaa
     3781 aaaatgttct gcagtttgat tgatatggct tttaaattca gtgaatcact ttcatgaata
     3841 ctgaagtagg tataatcttc agaactagta atcattatag ttacagatag gattccatcg
     3901 catgtcctgc tcaaatgaag acctgttctc attaatcaat actgcatgaa aatattactg
     3961 gctcacacta aaattaggag catcaggtgt ccagagtttt cctgtttggg ttcagatata
     4021 aaatctaagt ttctattgag gttaataagc tggaagcatt tgtttccttt aagccttgga
     4081 gaggtcattt tcttactcat tgatagctta tgtctactga atgcaatatt cttttctgtt
     4141 cagggatttt ggctgcatta tgatttggtt atgacataac tcagttaagg aatatattta
     4201 ctaatttcca atgtagtcta tgaggttcat ttaatgtttt taaattttct atgtgtgtgg
     4261 ctagaaggca tttgtagata tgcaaatatt tgttataatc ctgatccctt ttataatttg
     4321 agttattttc ttgccctggg ggtttacaag gacacgagtg caacactctt tatatggaga
     4381 agacaggaaa tagaccttga gctctaaacc tttgcctgac cccctcttct gtgggcctgt
     4441 gtttctggac aatggggagg tttacagcca gtatgagcag agcagactgg gagcacctca
     4501 atcctcatgc ttatattaga aaatgcctta gcaatgttga tgggctcctt gtagcactgg
     4561 agcatgggga gggaacaagc tcactgatgt catttatgcc tattgtcttc agtaacttag
     4621 aacttattat ggtatattaa atcaataaaa tgttggtgat gaacaatgtg ttttgtaacc
     4681 ataaggctga aagggacttc caggaatatc caatctattt ctctcacttt ttataaagat
     4741 ttgtctaagc aactactcta aacacatatt tattatctcc atacttaaga atatctacgg
     4801 gaagcatatt tgaaaagcat cattggaaat ccacctcaat actagtgata ggcctggaga
     4861 gaagtattgt atttatatat ctcaatttat cagaagaatc acaaattctg tattagttta
     4921 tatgatttta cttagagaat aagtatccat ttacattgcc ataaatgtca cgatgaagaa
     4981 cgtgccagag atttcttatt tatcactgac aggatgtcaa ctacattttt catacattat
     5041 aacctaagtg tattttcaca gctatagtcc gagataatgg tccaatttgt tatcattttg
     5101 ctaatctatt atagttgatt attgtagtta caatgttgct atatatgttt atgaggtact
     5161 atataaaatg tctgttcatt caaacttcaa tcacagaagt tagaagatgg agaaaaaatt
     5221 atatttttat ttgtcctaca caatgccatc tacatctctt ctcttaggaa ttgtgattgt
     5281 aacaatgtgg tggcatttgt tatttcatat gacttttatc tatacagtat tctcacttac
     5341 ttacaaacta ttaccaacag catgcatttt agtatggcag atacaagaaa tttgtgtgat
     5401 gttcccttag aaaccaaatg atattaaatt ggggaaatgg ttttaaccca ctctgcaagg
     5461 gatactttaa aatataattt ggcacctata gctcttgcat tttaatattc ttttaagctg
     5521 ctgtttggaa gaaggcacct tataactagc cattagcacc aaagcatcac gttggtatca
     5581 ggattatttt gatggagaga atgtcatcat ttgcaaataa atcagttatc taacaaaatc
     5641 agaatccccc aatatgtact cagaatgtac taccctgtat cttctttgtg gaccttaatc
     5701 attaggtaac attggccata ataaaaaata ataatatgct tcagaaacat agtagttgga
     5761 tctcttgtct atataacgta gagaagggga agaagacata gcttccaggt aacatgggac
     5821 ccaattgcgt acaatctgcc tttatattca tctcttgctc tatattttaa gtaatttcag
     5881 attttccttt taatatctga ttatgtggaa tcaagtgagc tttgatctgg gactctgaga
     5941 cagacattga tgcctgagac ttgagagtgg gtctgtaggt tcagcacttc aaatgttgtt
     6001 tcttacagtc ttgcactcct tcctcttgtc cagtaacaac ggtgtcagga cacagtagtt
     6061 tagtgtgaat atgtgtgtct ttccaggaaa aacaaagcaa aagaggataa taacaactta
     6121 aacaaaatct cattcacaag gggagcaaga cttttaattt tgcaaatgcc tccaaagagt
     6181 tccagcaata aagcaaaatt aaattgatag ataacaaaag gcaaagccat ggagaattct
     6241 gaaaacccca ccaggctctg tgttttgtat agaatcatac tgctgctgaa tgaaattgtg
     6301 tatctaaagt cgtaaggcat caggtaggag ctcaaaatta tgaccataat taaatatatt
     6361 tgttgaaggc tccttgggtc cctgactttc tgagagcagg tgttgtggat ggttaaggca
     6421 aaaagtaaaa cttttacaca caggtttctg tcttgtcatt ttgagaatga ctcagtccat
     6481 tctggaccct ttcttactcc attctgtcac tagaaaccat ctcaccccct cacgcctggc
     6541 cacagcaaac agcattctct cttcacttct gaacccagaa tggctacaga aagggttgct
     6601 ggtgcctcat tcaggcggat aggaaggacc acacacagtc aggcctgagc aacaatgtac
     6661 ttctgaagtg tagtaatgaa ctggatgtgc cggggcattg attatatctg cagcttcacc
     6721 ctctgctctt tcttcaaaac acagtctgac tccaagcact tcatacagct tcactgaatg
     6781 ttcctttgaa attaattata aatgactctg aataggcttt gggtagcacc aggcgtcttt
     6841 cagctgacaa tatctagaaa ctcaagttca agaaccaagc cctatatcgt agcttagttt
     6901 tttctactat tagattatag accttcagct acaaaaatta tgtcatttca gaggcttcta
     6961 taatcatagc ttaataatag atataaccca aaaatcatga tgcatgagac tgaattattg
     7021 aagtttaaca tatttctaaa cgatttatgg gcagctcttg atatgaatgt tcctaaacca
     7081 caaccagctg gtttaacata cacataaatt gtgttcatgt gattgaacaa aatttattgt
     7141 taaatgggta agttgacctc agctatggac tcaatttcaa gatcctcgta gtggtgaatg
     7201 aagagcagac actgatatta catacagatt aacaatcttg tcaggctata ctgagatagt
     7261 gtgcaaaatt ccttcctcac acttgatcca aacaattgaa acctgcgtat gactgttctt
     7321 ccatcccttg ttttcttcct tcctttgttc cttctttcct ttaattaaaa aaggtcactg
     7381 atacatttat aacacaggaa gtatcacagc taatcccata ttctaaaata gttttataaa
     7441 gtgattaata tttttagttt gtgtgtatgc atctgtgttt attgaatgta gatgtttcat
     7501 gattgaaaga agtaagtttc tttggaagga cttgggaatg cagagaagta aagtttgtgt
     7561 ctttatttct aatatgttat aaccagatca cggtttcagt taagtacctc attgccatcc
     7621 catccttaag aaatgaccta gttcagtggt tcagctgatc tgcttggaag tatctggctg
     7681 gcttcataag aattccgtag ggagttttag gaatacagaa gactagtctt taccttcaga
     7741 gatttggatt cagtaggtct caggtagggc ctaggaatct gtgtttagaa aatcactcta
     7801 agtaatgcta atatacagcc agacttggga atcattgaaa agtattcaaa taatcccaat
     7861 tactaggaat aaatacaagt tgactgggat agtgatgtta tttcatttgt agttattttg
     7921 aaaagttaaa tactctaggc ctcataccat tatttctttc acaaatttta attttagctt
     7981 tgatttccaa tttgtggtct tctttctgag catgaatctt caaacttaga gacagacgtc
     8041 aacactgata agcatgaggg atgaatattg ctcactatag ggctattagg catactagat
     8101 acagtaccat tttcttagtt actgccagag ctgtgcagta tattacaaca tttgctaatc
     8161 ctcaccaccg aggtaaaaac tatgaccttt gggacacaga agcaaatatc aaagtgacag
     8221 ccttacttct gaatgctttg atttttatgt catgaaaaga catcaactta atacttagtc
     8281 tcactatgta cttttcatat tgaattgtac attatctgaa aactgatttc caagcaatac
     8341 cgtgtaacaa cctttcaagc aataatttaa gccatggtga tgatgccata tgaagcttgc
     8401 acttctttgc atttcataga gcctttgtga aaacagaaac atgttttata caagcaataa
     8461 tatagctggt gtggactttt taaagatact cattattctg tagcaaaatg agcagcaagt
     8521 aatgactcag attaaaaata ttcgggcaaa tgacatgttt aatctatctc agaagttatt
     8581 catttgcaaa catgctgtaa agtgattaat atacatcaga ttatttctgg tgcataattt
     8641 taaacatggc tataaaaata tgatttctat tcctgtcaaa gagatttgtg tattatttat
     8701 aatgttgccc aatttttgga tctttgtagt atataatagt aaggaagaag ttaaggatgg
     8761 ataaatgagt ggaagtagag cataggttgg aagaggtgat tgagaaagta ggctttgcaa
     8821 aaatatagat gggtcttgcg gcagatttat tcaaatgttg gtttgatatg gtcttggaag
     8881 atgaaagagt aaagataaaa gagctcatta ttactgtttt caatgatagc tacacaagtt
     8941 tttggtaagt atgatagtat tttgacttca gaatatgatt gactgaaagt cacctgtagc
     9001 acaataaata aaagtctgaa aatgattatt cagtaatact gaaaaaacac taaagctttc
     9061 agatttcgaa atgaaaaaat catgttttta gtctacttaa aatacaattt taatagaatg
     9121 tggcatagtc aatgataatc agttctttag tagttaaatt tacttcatca tttagaataa
     9181 tgtataagga ttacagctaa aatcaactag taaatttatg tttatactga acagtatcta
     9241 aacatcagat tatgatttag catataagct taggattcat tcctaagcat ctaaataaga
     9301 tgacagctcc tattattgcc ctgcaaggta aacaatcccc taaacatgaa tatgaaccca
     9361 tttgaatggt gggtgtgttc gatattttgt ctttaccttt ctattactca tagcaaaact
     9421 taattttagc attctcctgc ccacagtttg gaaaatttcc ctatcaaaat caaaccggat
     9481 tgttgattta ctgaggcttt gacaattatc ctcttgtata tcactggatc cttaaatcct
     9541 tagtaagaat ggttttgggt taaataaata atggaaaata tttaatttga atctattaaa
     9601 ttacactgaa gttatccttc cagttaattc agctagttgc tgatcagatc attctttata
     9661 ttagacttaa gtattgttgc ttattattta aaagcagaaa agaaaaacca aatggcaggt
     9721 ctgagtaata gttacttttt gattcttttg atacatattt ttaaactgaa gaaatcactt
     9781 tatattcagt cttcttctgt ggactttttg ctatttgcag ataaagaagg aattctactt
     9841 aatatatttt tactgtggtc tattaaatgt cattaaacct atatctaaga ggaaagtaat
     9901 aactgaaata aaatcaggaa tgtgcaaaat tgtttcttca tacctcactt tctgaagaca
     9961 cttctttgca ttctgctgcc tggcatttac acagcagact caggacaaag ggacaaatgg
    10021 agtgagtgag gtgggcagga gctttagaag agatgaagca aagagagtta gttttttatt
    10081 caggaagatg tagagactct taaaggagag gcaatttccg taacaaacac ctctggttta
    10141 atggaagcca catgatttat ttgactactg gtcactcatt tttaaaaaga aaagagaaag
    10201 acaaaaaaag agaaaccctt cacaagccat ttttagtttt cctaggaggt agtgccaacc
    10261 tctcggcagc tgcacatctc agtgaagctg ggatagaagc ttacagagct acaaatagat
    10321 gctttctgaa ggtggcagat agaactagtc ttggttacaa tgattaaggt aaatgaaagt
    10381 gtcagaacat ctgggttgaa ggaacaaaga aggcccaata ccagctctgc catatgccac
    10441 agaaaaccct gctaaaatta gcatagaaaa acagactaac actatgcaag tgatattaaa
    10501 acaaactata ttttttcctt ttataacatg cctggctgag ctagcattca gtgagaagaa
    10561 tatacttttg tcttatgaat catttaaaaa catttgttgt tgttctgaca ttaaataaat
    10621 tacatattcc cttagttgaa aaatttaatc acaaataata ggaaatattt attttgtgtc
    10681 ctgaaatttt taaacttttg gcggctgtac tctacgccat attcttcttc acattcttct
    10741 caaattgggt ttggctgcta gcaaaacaag tgtggaactt tagagcagaa aaatgtccat
    10801 ctgtctctta cagaatgtgc cagagtattt gagctggaga gagaatcacc ccatagcatt
    10861 taatggtatt ctgtgagaca cgaagactct agtcttctaa acttaaaagt ggttaggtag
    10921 taccttaatc atcaaagatt tttcacttac atgtaactgg ttaattcata tagagtttgt
    10981 ttagaacaga aactttaaaa ggagggaaca aacctgagca atttttaatc aaaattatca
    11041 gttagaaaaa gaatttaaga caaagattta ttgtcctgaa agagtcaact cactcatatc
    11101 caaaacttag aatgtcagag acttttgaaa gttttctgaa tgtgtcaact tcttcagcaa
    11161 tgagagattc aattaatgtt gtttctaggt tccttagagt tttatcctct gatgataaca
    11221 cttaattgtg aattacattt aagtgatttt tactttatat tttccatttg ttacagaaaa
    11281 aaagtcataa atatgacaga cttaaaaatt gtggcattga gccagggttt gcaaatttgg
    11341 caatattatt ttacttaaaa tattacactt tttaaaataa cataaacatt aaggataata
    11401 gtcaaataat actgtatttt cagcttgttc acattagaat atagaacaac gcattgtaaa
    11461 cttctcggaa taaaatctaa gtcaaaacca atttatgttc aaatcatttg aacaacaaat
    11521 atgaatattg ttacatcacc tctgactctc tgactagtaa gaaactatgc atttccatac
    11581 ccaatgaaac ctcaattcct acagcaattc tacttttatt gcctcccaag aactatttct
    11641 tcatggtcaa tatcactctt taaaagctag caaaatatga ctttcttctg aggtttgggc
    11701 aatctggatc aatatttatg tatctaacca cttgaaaggc tgtctccttt tttggccttt
    11761 taaattaaaa cttccataaa atgaagcaaa atatgaaaac agctagttga tttatcaata
    11821 atgtgaaacc ctccttctga atttttttgg taaaaattac cacactgaaa ccaaaactta
    11881 accttggctt ggactctcag ataaattgct tttgtattct ttgactacaa agtattctca
    11941 aaaagaagaa attatttctg atggtagatc aaactctagc caagaaggtc tagataaact
    12001 agaggactgt ataattatct aaagtaattc agggggactt ttagaaaaat tctttaattt
    12061 ttgttcctgt gtaaaaatta ttattaatgg atggcagccc aaattactat tcttctttta
    12121 aaatttgttt caagtgtgtc accaggcact cataaaattc atttatttgt tatataactc
    12181 aatgacctga aataataggt gctcattgct ttttcatttg atccttaaaa acaattttat
    12241 tctgtctaaa aaaaattctc ctgctaaaat ccaaatgatt acctggctat aggaggagtc
    12301 ccattttatg aacatgtatg aaatatttag ttggattcag atgaaatgca acttagagaa
    12361 aggaatggat accagtagag aagatggaaa gagacacaaa aatcagactt tgcttacatc
    12421 aaaattaggt ctgttgtcta atcctgttaa cctagaggca agctgaaaat agatggtaag
    12481 gataaataga tttttaaaca cagtatttat atttaacaga atgtcataaa aatgacagaa
    12541 tgccatgaaa ttcagcatgt caaaactttg ataaaacaaa caagaaattt aataaatatg
    12601 ctaattagag tgaatattta aagggacaaa aataacttgt cacatcatag atgtctcccc
    12661 agtgcagaat ttattatctg ctgggaaaat ttggttttat gtcttcaatc aatatttgct
    12721 gcattatcta attaaacatt agtatatttt ttgtgctaat gagaaaccat gcaagagtcc
    12781 aaatatcaag tgtggtgaca gcttgaatca gttgagtttg gtgttcatga ataaaattct
    12841 tgatgaatgt gaaatgaatg gtttatatac ataagtttta tgtgcagtaa attaattagg
    12901 ctttaaaact tgttagcatg cttagctcct cttttttcca ttgaattatc ttcctatctt
    12961 ccttccttcc ttcctttcct tcctttcctt ccctccctct ttgctttatt tctttctagc
    13021 tcttataaga taaatgacaa tagtacttta ctatttgggc tggagcctcc ctttttcact
    13081 ttcacatgat tgaacacttt gtggatttgt gagaaaaggg gaaagaagat gagcacgtag
    13141 atgcagatca gttgaggata gaagtgactg agagaattgg gaccttgact tccagagact
    13201 gtcagtcaag agaaatgtgg gtctataaaa atctatgtgt gttcattttc attgaattta
    13261 aacacttttt caagaagtat cagggtcaat ctgtttggac aatctcctat ttttaccccc
    13321 ttacaaatgt cttaagttag aaaaacctct tattttcaag tagtcatttt tttttatgtg
    13381 agtaccacac tgctaaagac tgaaatagaa aaaaaaaatg ctttttctgt ttgtagggaa
    13441 attgctttct gaaaactact cccaataaga tgtatacatc aaatgcaact tgattttact
    13501 ggctctttat ctagagataa ctgatgcact gtcttctttc ttagataccc ttctgtaatt
    13561 cagcttggca tagtatgatg ttttgagttc ttattgaggg tttggaaaca tttgtcatca
    13621 attttatgtc tactctattg aaaaagcaat atacaatgta ttccatattt cttagctctg
    13681 tgtctttgag gttttaaacc tatattcaga tagctgtttt tagctacaat tttgagtatt
    13741 caccagaatt tacaaattgc cattttatta aatacaaaaa aaaaaaaagt acagcttgga
    13801 tcaagagatc aaacatttac aaatctcaat ccaaagccat tatttttcag ggaaaattaa
    13861 atcatttcta gcagagtatt tgactcctaa gggaaaataa gtcaaatatc ttctttaaga
    13921 gtaagggcat tcttccattg taggtatttc taattgactt tataataatt tgaacaaatc
    13981 ttgaacaaga tttaaagaat ttataatctc ccaaacttaa aattgtattc tttctggttt
    14041 tttattttta tgtattaaga ttatattcaa accacttaat tatcttcatg acataagttt
    14101 gtgttaatag aaaattatac agaaaaaaac atgatttgtt cctctgtgga aagatatgct
    14161 tcaatgagtt aaataccctt gaattttggt tctcatttct tatttggact tttctgttat
    14221 gtacctcagg ggtcttaaat tctaacagat gaagtagtca aaggggtata aaatacttga
    14281 aaaaaattaa aacttcaaaa gggacgaatt tctctgttaa cttttgttta tcctatactg
    14341 acttattttg aaattgtgaa aaaacaggca gctaccatat aaattggtat ctatgaaaat
    14401 actgattact ttcttcctgt gattttcact gttaagaaaa cctttgtctt gaaatgatgg
    14461 acaatcttaa tacttgttca gataaagaaa tgtgactttc aataccttta ccatttgtat
    14521 ttctttaggg aaatatttta ataatgattg taaaaataga agaaatatgg ttgagaaaaa
    14581 tagaagaaat taagatgaaa tttgaacagt tgtaatccac agtcccattt ttccctctat
    14641 tttattgcct tctactaagt tattgaaggc ccagatctgc aaaatttaca agctactaat
    14701 tcattgtctc ctttaagaat ttggagcaaa aattattccg actatgcgga aatgaattca
    14761 catcatcatg gcaggttttg actatgaggg aattcaggtt aggttcaaat agaataatgg
    14821 tccatggaga aaaatacttt ctgatttttc ttcaagttgg atggaaaggt ttttctttat
    14881 ttaaaaaaaa aaaaaaaaag tcctcctgag aattttgcct tcgaaaaaga agttttataa
    14941 cagctgcctg tagctacatt ataacttcgg taattaagtg acaaaactgt ctcattatgc
    15001 ttttaaaata ctgattaagt gcattccaga aataatacat atcattcatt tcaaaatcaa
    15061 cctacctgaa ttctgactct tcaatcatga gtagccattt tacaaaacca aagggtctca
    15121 tttcccaaac agtactttaa atatcatcct aatagtaata tcctaatagt aataatccta
    15181 ttaatactca cttcaatgca taaaataaac agccaatgca cttccatcaa gtctgcaggc
    15241 actatataat aataaatagg tttccaaaat cacttaataa aaacacacag ttataatgtg
    15301 ctcggccttc attagcatcc tctgcatggg gtggttttca tttaacctga attattttaa
    15361 cattttggct aatttgtttg ctgcaatttc atgggtctaa atttttggtt tggtttgcaa
    15421 tgtaaatcat attgtatatc tgctcctttg ttattagatt tactttgtga ataatatctt
    15481 ttaaaaattg agttatcaaa aacttaaatt ataatgtcat caactaatac caggtaaata
    15541 tactaatata tatgtagggc atgattaaat tgcatatatt ttgaaatgtc aaactatttt
    15601 ttgttttttt aaaaaaatga atgcatctct taaacctgta ccattaattt taaaaaagtt
    15661 tcatttggta tttcatatta tattttaaaa tatttttctt tatctagtag tacaggttta
    15721 aagaaacttt ttctgattga aatgataaaa tatgcctcat ttcactagaa ttttaagaat
    15781 aatacatgta aaagtataac tcatataaga ttataaatat ccacaatatc ttctttgatt
    15841 ttcatgtaac accacttttt actcattctt ttatttgtta ttattcgaaa tcattcacaa
    15901 tgtaaatagc atgtttcatg atgtaaaatg tctttgcatt tacagactgc agaacaaggt
    15961 gaatttgtat atgaaaaata agtgatggaa acgtgggatt cttataaaac aaagtggaaa
    16021 tgatagttct gtgttatatt tacataattc attacaaaat tgtctagtta agtcatgcat
    16081 ttatttacct taaaagtgtc caaactgtca cttataaaat atttaaatca ataaataata
    16141 ccaaaaagga
//
LOCUS       NM_000857               3382 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens guanylate cyclase 1 soluble subunit beta 1 (GUCY1B1),
            transcript variant 2, mRNA.
ACCESSION   NM_000857
VERSION     NM_000857.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3382)
  AUTHORS   Korkmaz Y, Puladi B, Galler K, Kammerer PW, Schroder A, Golz L,
            Sparwasser T, Bloch W, Friebe A and Deschner J.
  TITLE     Inflammation in the Human Periodontium Induces Downregulation of the
            alpha1- and beta1-Subunits of the sGC in Cementoclasts
  JOURNAL   Int J Mol Sci 22 (2), 539 (2021)
   PUBMED   33430449
  REMARK    GeneRIF: Inflammation in the Human Periodontium Induces
            Downregulation of the alpha1- and beta1-Subunits of the sGC in
            Cementoclasts. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3382)
  AUTHORS   Childers KC, Yao XQ, Giannakoulias S, Amason J, Hamelberg D and
            Garcin ED.
  TITLE     Synergistic mutations in soluble guanylyl cyclase (sGC) reveal a key
            role for interfacial regions in the sGC activation mechanism
  JOURNAL   J Biol Chem 294 (48), 18451-18464 (2019)
   PUBMED   31645439
  REMARK    GeneRIF: Results suggest mechanistic insights into the molecular
            pathway for soluble guanylyl cyclase (sGC) activation.
REFERENCE   3  (bases 1 to 3382)
  AUTHORS   Cortese-Krott MM, Mergia E, Kramer CM, Luckstadt W, Yang J, Wolff G,
            Panknin C, Bracht T, Sitek B, Pernow J, Stasch JP, Feelisch M,
            Koesling D and Kelm M.
  TITLE     Identification of a soluble guanylate cyclase in RBCs: preserved
            activity in patients with coronary artery disease
  JOURNAL   Redox Biol 14, 328-337 (2018)
   PUBMED   29024896
  REMARK    GeneRIF: Human Red Blood Cells carry catalytically active
            alpha1beta1-soluble guanylate cyclase (isoform 1). Red cell soluble
            guanylate cyclase activity is fully preserved in patients with
            stable coronary artery disease.
REFERENCE   4  (bases 1 to 3382)
  AUTHORS   Rain M, Chaudhary H, Kukreti R, Thinlas T, Mohammad G and Pasha Q.
  TITLE     Elevated Vasodilatory Cyclases and Shorter Telomere Length
            Contribute to High-Altitude Pulmonary Edema
  JOURNAL   High Alt Med Biol 19 (1), 60-68 (2018)
   PUBMED   29443612
  REMARK    GeneRIF: Our observations revealed that rs7638A/C polymorphism of
            GUCY1B3 and the longer telomere length inclined toward adaptation to
            high altitude.
REFERENCE   5  (bases 1 to 3382)
  AUTHORS   Sotolongo A, Monica FZ, Kots A, Xiao H, Liu J, Seto E, Bian K and
            Murad F.
  TITLE     Epigenetic regulation of soluble guanylate cyclase (sGC) beta1 in
            breast cancer cells
  JOURNAL   FASEB J 30 (9), 3171-3180 (2016)
   PUBMED   27279362
  REMARK    GeneRIF: Inhibition of HDAC3 with targeted therapy could benefit
            treatment of the diseases associated with sGCbeta1 down-regulation
            and/or deficiency such as cancer and several vascular-related
            diseases.
REFERENCE   6  (bases 1 to 3382)
  AUTHORS   Zabel U, Weeger M, La M and Schmidt HH.
  TITLE     Human soluble guanylate cyclase: functional expression and revised
            isoenzyme family
  JOURNAL   Biochem J 335 (Pt 1) (Pt 1), 51-57 (1998)
   PUBMED   9742212
REFERENCE   7  (bases 1 to 3382)
  AUTHORS   Papapetropoulos A, Cziraki A, Rubin JW, Stone CD and Catravas JD.
  TITLE     cGMP accumulation and gene expression of soluble guanylate cyclase
            in human vascular tissue
  JOURNAL   J Cell Physiol 167 (2), 213-221 (1996)
   PUBMED   8613461
REFERENCE   8  (bases 1 to 3382)
  AUTHORS   Giuili G, Roechel N, Scholl U, Mattei MG and Guellaen G.
  TITLE     Colocalization of the genes coding for the alpha 3 and beta 3
            subunits of soluble guanylyl cyclase to human chromosome 4 at
            q31.3-q33
  JOURNAL   Hum Genet 91 (3), 257-260 (1993)
   PUBMED   8097486
REFERENCE   9  (bases 1 to 3382)
  AUTHORS   Giuili G, Scholl U, Bulle F and Guellaen G.
  TITLE     Molecular cloning of the cDNAs coding for the two subunits of
            soluble guanylyl cyclase from human brain
  JOURNAL   FEBS Lett 304 (1), 83-88 (1992)
   PUBMED   1352257
REFERENCE   10  (bases 1 to 3382)
  AUTHORS   Chhajlani V, Frandberg PA, Ahlner J, Axelsson KL and Wikberg JE.
  TITLE     Heterogeneity in human soluble guanylate cyclase due to alternative
            splicing
  JOURNAL   FEBS Lett 290 (1-2), 157-158 (1991)
   PUBMED   1680753
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK315199.1, BC047620.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000264424.13/ ENSP00000264424.8
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC342619.1, X66533.1, BC026332.1, AI189698.1, DB536632.1 and
            AC114761.3.
            On Feb 27, 2020 this sequence version replaced NM_000857.4.
            Summary: This gene encodes the beta subunit of the soluble
            guanylate cyclase (sGC), which catalyzes the conversion of GTP
            (guanosine triphosphate) to cGMP (cyclic guanosine monophosphate).
            The encoded protein contains an HNOX domain, which serves as a
            receptor for ligands such as nitric oxide, oxygen and
            nitrovasodilator drugs. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, May 2014].
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1. It encodes
            isoform 2, which lacks an internal segment and is shorter than
            isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3382
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.1"
     gene            1..3382
                     /gene="GUCY1B1"
                     /gene_synonym="GC-S-beta-1; GC-SB3; GUC1B3; GUCB3; GUCSB3;
                     GUCY1B3"
                     /note="guanylate cyclase 1 soluble subunit beta 1"
                     /db_xref="GeneID:2983"
                     /db_xref="HGNC:HGNC:4687"
                     /db_xref="MIM:139397"
     misc_feature    40..42
                     /gene="GUCY1B1"
                     /gene_synonym="GC-S-beta-1; GC-SB3; GUC1B3; GUCB3; GUCSB3;
                     GUCY1B3"
                     /note="upstream in-frame stop codon"
     CDS             121..1980
                     /gene="GUCY1B1"
                     /gene_synonym="GC-S-beta-1; GC-SB3; GUC1B3; GUCB3; GUCSB3;
                     GUCY1B3"
                     /EC_number="4.6.1.2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     guanylate cyclase soluble subunit beta-1; GCS-beta-1;
                     GCS-beta-3; soluble guanylate cyclase small subunit;
                     guanylate cyclase soluble subunit beta-3; guanylate cyclase
                     1, soluble, beta 3"
                     /codon_start=1
                     /product="guanylate cyclase soluble subunit beta-1 isoform
                     2"
                     /protein_id="NP_000848.1"
                     /db_xref="CCDS:CCDS47154.1"
                     /db_xref="GeneID:2983"
                     /db_xref="HGNC:HGNC:4687"
                     /db_xref="MIM:139397"
                     /translation="MYGFVNHALELLVIRNYGPEVWEDIKKEAQLDEEGQFLVRIIYDD
                     SKTYDLVAAASKVLNLNAGEILQMFGKMFFVFCQESGYDTILRVLGSNVREFLQNLDAL
                     HDHLATIYPGMRAPSFRCTDAEKGKGLILHYYSEREGLQDIVIGIIKTVAQQIHGTEID
                     MKVIQQRNEECDHTQFLIEEKESKEEDFYEDLDRFEENGTQESRISPYTFCKAFPFHII
                     FDRDLVVTQCGNAIYRVLPQLQPGNCSLLSVFSLVRPHIDISFHGILSHINTVFVLRSK
                     EGLLDVEKLECEDELTGTEISCLRLKGQMIYLPEADSILFLCSPSVMNLDDLTRRGLYL
                     SDIPLHDATRDLVLLGEQFREEYKLTQELEILTDRLQLTLRALEDEKKKTDTLLYSVLP
                     PSVANELRHKRPVPAKRYDNVTILFSGIVGFNAFCSKHASGEGAMKIVNLLNDLYTRFD
                     TLTDSRKNPFVYKVETVGDKYMTVSGLPEPCIHHARSICHLALDMMEIAGQVQVDGESV
                     QITIGIHTGEVVTGVIGQRMPRYCLFGNTVNLTSRTETTGEKGKINVSEYTYRCLMSPE
                     NSDPQFHLEHRGPVSMKGKKEPMQVWFLSRKNTGTEETKQDDD"
     regulatory      3141..3146
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GUCY1B1"
                     /gene_synonym="GC-S-beta-1; GC-SB3; GUC1B3; GUCB3; GUCSB3;
                     GUCY1B3"
                     /note="hexamer: AATAAA"
     polyA_site      3162
                     /gene="GUCY1B1"
                     /gene_synonym="GC-S-beta-1; GC-SB3; GUC1B3; GUCB3; GUCSB3;
                     GUCY1B3"
                     /note="major polyA site"
     regulatory      3184..3189
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GUCY1B1"
                     /gene_synonym="GC-S-beta-1; GC-SB3; GUC1B3; GUCB3; GUCSB3;
                     GUCY1B3"
                     /note="hexamer: AATAAA"
     polyA_site      3202
                     /gene="GUCY1B1"
                     /gene_synonym="GC-S-beta-1; GC-SB3; GUC1B3; GUCB3; GUCSB3;
                     GUCY1B3"
     regulatory      3347..3352
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GUCY1B1"
                     /gene_synonym="GC-S-beta-1; GC-SB3; GUC1B3; GUCB3; GUCSB3;
                     GUCY1B3"
                     /note="hexamer: AATAAA"
     polyA_site      3382
                     /gene="GUCY1B1"
                     /gene_synonym="GC-S-beta-1; GC-SB3; GUC1B3; GUCB3; GUCSB3;
                     GUCY1B3"
ORIGIN
        1 gctccagctc gatgctgcct ccccggcccg gttgcgctgt agccgctgcc gcctctgcct
       61 gggtcccttc ggccgtacct ctgcgtgggg gctgcctccc cggctcccgg tgcagacacc
      121 atgtacggat ttgtgaatca cgccctggag ttgctggtga tccgcaatta cggccccgag
      181 gtgtgggaag acatcaaaaa agaggcacag ttagatgaag aaggacagtt tcttgtcaga
      241 ataatatatg atgactccaa aacttatgat ttggttgctg ctgcaagcaa agtcctcaat
      301 ctcaatgctg gagaaatcct ccaaatgttt gggaagatgt ttttcgtctt ttgccaagaa
      361 tctggttatg atacaatctt gcgtgtcctg ggctctaatg tcagagaatt tctacagaac
      421 cttgatgctc tgcacgacca ccttgctacc atctacccag gaatgcgtgc accttccttt
      481 aggtgcactg atgcagaaaa gggcaaagga ctcattttgc actactactc agagagagaa
      541 ggacttcagg atattgtcat tggaatcatc aaaacagtgg cacaacaaat ccatggcact
      601 gaaatagaca tgaaggttat tcagcaaaga aatgaagaat gtgatcatac tcaattttta
      661 attgaagaaa aagagtcaaa agaagaggat ttttatgaag atcttgacag atttgaagaa
      721 aatggtaccc aggaatcacg catcagccca tatacattct gcaaagcttt tccttttcat
      781 ataatatttg accgggacct agtggtcact cagtgtggca atgctatata cagagttctc
      841 ccccagctcc agcctgggaa ttgcagcctt ctgtctgtct tctcgctggt tcgtcctcat
      901 attgatatta gtttccatgg gatcctttct cacatcaata ctgtttttgt attgagaagc
      961 aaggaaggat tgttggatgt ggagaaatta gaatgtgagg atgaactgac tgggactgag
     1021 atcagctgct tacgtctcaa gggtcaaatg atctacttac ctgaagcaga tagcatactt
     1081 tttctatgtt caccaagtgt catgaacctg gacgatttga caaggagagg gctgtatcta
     1141 agtgacatcc ctctgcatga tgccacgcgc gatcttgttc ttttgggaga acaatttaga
     1201 gaggaataca aactcaccca agaactggaa atcctcactg acaggctaca gctcacgtta
     1261 agagccctgg aagatgaaaa gaaaaagaca gacacattgc tgtattctgt ccttcctccg
     1321 tctgttgcca atgagctgcg gcacaagcgt ccagtgcctg ccaaaagata tgacaatgtg
     1381 accatcctct ttagtggcat tgtgggcttc aatgctttct gtagcaagca tgcatctgga
     1441 gaaggagcca tgaagatcgt caacctcctc aacgacctct acaccagatt tgacacactg
     1501 actgattccc ggaaaaaccc atttgtttat aaggtggaga ctgttggtga caagtatatg
     1561 acagtgagtg gtttaccaga gccatgcatt caccatgcac gatccatctg ccacctggcc
     1621 ttggacatga tggaaattgc tggccaggtt caagtagatg gtgaatctgt tcagataaca
     1681 atagggatac acactggaga ggtagttaca ggtgtcatag gacagcggat gcctcgatac
     1741 tgtctttttg ggaatactgt caacctcaca agccgaacag aaaccacagg agaaaaggga
     1801 aaaataaatg tgtctgaata tacatacaga tgtcttatgt ctccagaaaa ttcagatcca
     1861 caattccact tggagcacag aggcccagtg tccatgaagg gcaaaaaaga accaatgcaa
     1921 gtttggtttc tatccagaaa aaatacagga acagaggaaa caaagcagga tgatgactga
     1981 atcttggatt atggggtgaa gaggagtaca gactaggttc cagttttctc ctaacacgtg
     2041 ccaagcccag gagcagttct tccctatgga tacagatttt cttttgtcct tgtccattac
     2101 cccaagactt tcttctagat atatctctca ctatccgtta ttcaacctta gctctgcttt
     2161 ctattacttt ttaggcttta gtatattatc taaagtttgg cttttgatgt ggatgatgtg
     2221 agcttcatgt gtcttaaaat ctactacaag cattacctaa catggtgatc tgcaagtagt
     2281 aggcacccaa taaatatttg ttgaatttag ttaaatgaaa ctgaacagtg tttggccatg
     2341 tgtatattta tatcatgttt accaaatctg tttagtgttc cacatatatg tatatgtata
     2401 ttttaatgac tataatgtaa taaagtttat atcatgttgg tgtatatcat tatagaaatc
     2461 attttctaaa ggagtgaatt ctaagtttta ggggaaaaaa tgcaatttat tttcagactc
     2521 ccaaagtaag aattaacata tcatgctaag aaaatagtga ctattttgaa gtatgctact
     2581 tccctttcag aaatatagaa tacacgtttc tgttattaaa gtatttgatt actaattcaa
     2641 atcatatggc aattataatt cttctaaaat gctatcattt gtaactgtat cccctgtatt
     2701 aaatctcatt aaccacaggc agctgttaca gaaagctgca ttgtttcaca ttgagctgtt
     2761 acattagttc aggctaaatg ttgggagctc caaccacatc caagaataaa tctggaaaca
     2821 cactgctggg atactgctgt tagagccctt cttggccttg tattcccaga aatgagctcc
     2881 ctttccttag cttagaagaa tgtgattata tccaggacat catgttcaga aaacttagtt
     2941 tactttcagc atagaatgca ttactgttgg aataattggc ctctagctct taaatgtctc
     3001 tgataactta ttaatatcta tctttataaa atagagtgca actacttttg tgtaaaaatg
     3061 tttgccttta aatttagtat ttcatatcag cacatcgata tatgtataaa tgttccatgt
     3121 taatgtgtaa aagagtctgt aataaattat ttttttcacg tgtctctata cagtttttat
     3181 ttcaataaaa atattaacat tatttttcat tttattaatg ccattatttt gtaaatacat
     3241 tttacaattt tgcctatttg ctaccattat aaattttcac tgactcctca tagacagcat
     3301 attcttaaat gctatatttc tttttaatac caacagagtg acaggaaata aagactgggc
     3361 atggaaaggg gaaacagtta aa
//
LOCUS       NM_000859               4530 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR),
            transcript variant 1, mRNA.
ACCESSION   NM_000859
VERSION     NM_000859.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4530)
  AUTHORS   Li J, Tang X, Xu J, Liu R, Jiang L, Xu L, Tian J, Feng X, Wu Y,
            Zhang Y, Wang D, Sun K, Xu B, Zhao W, Hui R, Gao R, Song L, Yuan J
            and Zhao X.
  TITLE     HMGCR gene polymorphism is associated with residual cholesterol risk
            in premature triple-vessel disease patients treated with
            moderate-intensity statins
  JOURNAL   BMC Cardiovasc Disord 23 (1), 317 (2023)
   PUBMED   37355634
  REMARK    GeneRIF: HMGCR gene polymorphism is associated with residual
            cholesterol risk in premature triple-vessel disease patients treated
            with moderate-intensity statins. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4530)
  AUTHORS   Yogev Y, Shorer Z, Koifman A, Wormser O, Drabkin M, Halperin D,
            Dolgin V, Proskorovski-Ohayon R, Hadar N, Davidov G, Nudelman H,
            Zarivach R, Shelef I, Perez Y and Birk OS.
  TITLE     Limb girdle muscular disease caused by HMGCR mutation and statin
            myopathy treatable with mevalonolactone
  JOURNAL   Proc Natl Acad Sci U S A 120 (7), e2217831120 (2023)
   PUBMED   36745799
  REMARK    GeneRIF: Limb girdle muscular disease caused by HMGCR mutation and
            statin myopathy treatable with mevalonolactone.
REFERENCE   3  (bases 1 to 4530)
  AUTHORS   Zhao X, Tang X, Xu J, Liu R, Huang K, Li J, Li Y, Jiang L, Xu L,
            Zhang Y, Wang D, Hui R, Gao R, Song L and Yuan J.
  TITLE     Novel polymorphism of the HMGCR gene related to the risk of diabetes
            in premature triple-vessel disease patients
  JOURNAL   J Gene Med 24 (9), e3445 (2022)
   PUBMED   35998373
  REMARK    GeneRIF: Novel polymorphism of the HMGCR gene related to the risk of
            diabetes in premature triple-vessel disease patients.
REFERENCE   4  (bases 1 to 4530)
  AUTHORS   Das KC, Hossain MU, Moniruzzaman M, Salimullah M and Akhteruzzaman
            S.
  TITLE     High-Risk Polymorphisms Associated with the Molecular Function of
            Human HMGCR Gene Infer the Inhibition of Cholesterol Biosynthesis
  JOURNAL   Biomed Res Int 2022, 4558867 (2022)
   PUBMED   35707384
  REMARK    GeneRIF: High-Risk Polymorphisms Associated with the Molecular
            Function of Human HMGCR Gene Infer the Inhibition of Cholesterol
            Biosynthesis. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4530)
  AUTHORS   Acosta IJ, Hofer M and Brady S.
  TITLE     Mitochondrial dysfunction in anti-3-hydroxy-3-methylglutaryl-CoA
            reductase (HMGCR) immune-mediated necrotising myopathy
  JOURNAL   Neuromuscul Disord 32 (5), 441-444 (2022)
   PUBMED   35487868
  REMARK    GeneRIF: Mitochondrial dysfunction in
            anti-3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR)
            immune-mediated necrotising myopathy.
REFERENCE   6  (bases 1 to 4530)
  AUTHORS   Hodge VJ, Gould SJ, Subramani S, Moser HW and Krisans SK.
  TITLE     Normal cholesterol synthesis in human cells requires functional
            peroxisomes
  JOURNAL   Biochem Biophys Res Commun 181 (2), 537-541 (1991)
   PUBMED   1755834
REFERENCE   7  (bases 1 to 4530)
  AUTHORS   Ramharack R, Tam SP and Deeley RG.
  TITLE     Characterization of three distinct size classes of human
            3-hydroxy-3-methylglutaryl coenzyme A reductase mRNA: expression of
            the transcripts in hepatic and nonhepatic cells
  JOURNAL   DNA Cell Biol 9 (9), 677-690 (1990)
   PUBMED   1979742
REFERENCE   8  (bases 1 to 4530)
  AUTHORS   Clarke PR and Hardie DG.
  TITLE     Regulation of HMG-CoA reductase: identification of the site
            phosphorylated by the AMP-activated protein kinase in vitro and in
            intact rat liver
  JOURNAL   EMBO J 9 (8), 2439-2446 (1990)
   PUBMED   2369897
REFERENCE   9  (bases 1 to 4530)
  AUTHORS   Luskey,K.L. and Stevens,B.
  TITLE     Human 3-hydroxy-3-methylglutaryl coenzyme A reductase. Conserved
            domains responsible for catalytic activity and sterol-regulated
            degradation
  JOURNAL   J Biol Chem 260 (18), 10271-10277 (1985)
   PUBMED   2991281
REFERENCE   10  (bases 1 to 4530)
  AUTHORS   Humphries,S.E., Tata,F., Henry,I., Barichard,F., Holm,M., Junien,C.
            and Williamson,R.
  TITLE     The isolation, characterisation, and chromosomal assignment of the
            gene for human 3-hydroxy-3-methylglutaryl coenzyme A reductase,
            (HMG-CoA reductase)
  JOURNAL   Hum Genet 71 (3), 254-258 (1985)
   PUBMED   2998972
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.216274.1,
            SRR1803616.157341.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000287936.9/ ENSP00000287936.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M62627.1, BC033692.1, M11058.1,
            CN278665.1 and AA648735.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000859.2.
            Summary: HMG-CoA reductase is the rate-limiting enzyme for
            cholesterol synthesis and is regulated via a negative feedback
            mechanism mediated by sterols and non-sterol metabolites derived
            from mevalonate, the product of the reaction catalyzed by
            reductase. Normally in mammalian cells this enzyme is suppressed by
            cholesterol derived from the internalization and degradation of low
            density lipoprotein (LDL) via the LDL receptor. Competitive
            inhibitors of the reductase induce the expression of LDL receptors
            in the liver, which in turn increases the catabolism of plasma LDL
            and lowers the plasma concentration of cholesterol, an important
            determinant of atherosclerosis. Alternatively spliced transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Aug 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1 and 3
            both encode the same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4530
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.3"
     gene            1..4530
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="3-hydroxy-3-methylglutaryl-CoA reductase"
                     /db_xref="GeneID:3156"
                     /db_xref="HGNC:HGNC:5006"
                     /db_xref="MIM:142910"
     CDS             105..2771
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /EC_number="1.1.1.34"
                     /note="isoform 1 is encoded by transcript variant 1;
                     3-hydroxy-3-methylglutaryl-Coenzyme A reductase;
                     hydroxymethylglutaryl-CoA reductase;
                     3-hydroxy-3-methylglutaryl CoA reductase (NADPH); HMG-CoA
                     reductase"
                     /codon_start=1
                     /product="3-hydroxy-3-methylglutaryl-Coenzyme A reductase
                     isoform 1"
                     /protein_id="NP_000850.1"
                     /db_xref="CCDS:CCDS4027.1"
                     /db_xref="GeneID:3156"
                     /db_xref="HGNC:HGNC:5006"
                     /db_xref="MIM:142910"
                     /translation="MLSRLFRMHGLFVASHPWEVIVGTVTLTICMMSMNMFTGNNKICG
                     WNYECPKFEEDVLSSDIIILTITRCIAILYIYFQFQNLRQLGSKYILGIAGLFTIFSSF
                     VFSTVVIHFLDKELTGLNEALPFFLLLIDLSRASTLAKFALSSNSQDEVRENIARGMAI
                     LGPTFTLDALVECLVIGVGTMSGVRQLEIMCCFGCMSVLANYFVFMTFFPACVSLVLEL
                     SRESREGRPIWQLSHFARVLEEEENKPNPVTQRVKMIMSLGLVLVHAHSRWIADPSPQN
                     STADTSKVSLGLDENVSKRIEPSVSLWQFYLSKMISMDIEQVITLSLALLLAVKYIFFE
                     QTETESTLSLKNPITSPVVTQKKVPDNCCRREPMLVRNNQKCDSVEEETGINRERKVEV
                     IKPLVAETDTPNRATFVVGNSSLLDTSSVLVTQEPEIELPREPRPNEECLQILGNAEKG
                     AKFLSDAEIIQLVNAKHIPAYKLETLMETHERGVSIRRQLLSKKLSEPSSLQYLPYRDY
                     NYSLVMGACCENVIGYMPIPVGVAGPLCLDEKEFQVPMATTEGCLVASTNRGCRAIGLG
                     GGASSRVLADGMTRGPVVRLPRACDSAEVKAWLETSEGFAVIKEAFDSTSRFARLQKLH
                     TSIAGRNLYIRFQSRSGDAMGMNMISKGTEKALSKLHEYFPEMQILAVSGNYCTDKKPA
                     AINWIEGRGKSVVCEAVIPAKVVREVLKTTTEAMIEVNINKNLVGSAMAGSIGGYNAHA
                     ANIVTAIYIACGQDAAQNVGSSNCITLMEASGPTNEDLYISCTMPSIEIGTVGGGTNLL
                     PQQACLQMLGVQGACKDNPGENARQLARIVCGTVMAGELSLMAALAAGHLVKSHMIHNR
                     SKINLQDLQGACTKKTA"
     misc_feature    132..221
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="propagated from UniProtKB/Swiss-Prot (P04035.1);
                     transmembrane region"
     misc_feature    273..338
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="propagated from UniProtKB/Swiss-Prot (P04035.1);
                     transmembrane region"
     misc_feature    327..338
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="propagated from UniProtKB/Swiss-Prot (P04035.1);
                     Region: INSIG-binding motif.
                     /evidence=ECO:0000269|PubMed:19458199"
     misc_feature    372..446
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="propagated from UniProtKB/Swiss-Prot (P04035.1);
                     transmembrane region"
     misc_feature    474..551
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="propagated from UniProtKB/Swiss-Prot (P04035.1);
                     transmembrane region"
     misc_feature    582..665
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="propagated from UniProtKB/Swiss-Prot (P04035.1);
                     transmembrane region"
     misc_feature    678..764
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="propagated from UniProtKB/Swiss-Prot (P04035.1);
                     transmembrane region"
     misc_feature    849..929
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="propagated from UniProtKB/Swiss-Prot (P04035.1);
                     transmembrane region"
     misc_feature    945..947
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P04035.1); glycosylation site"
     misc_feature    990..992
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P04035.1); glycosylation site"
     misc_feature    1047..1121
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="propagated from UniProtKB/Swiss-Prot (P04035.1);
                     transmembrane region"
     misc_feature    1614..1616
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P04035.1); phosphorylation site"
     misc_feature    2718..2720
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P00347,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P04035.1); phosphorylation site"
     regulatory      3485..3490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="hexamer: TATAAA"
     polyA_site      3504
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="major polyA site"
     regulatory      4131..4136
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="hexamer: AATAAA"
     polyA_site      4158
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="major polyA site"
     regulatory      4508..4513
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="hexamer: AATGAA"
     polyA_site      4530
                     /gene="HMGCR"
                     /gene_synonym="LDLCQ3; LGMDR28; MYPLG"
                     /note="major polyA site"
ORIGIN
        1 ccttccgctc cgcgactgcg ttaactggag ccaggctgag cgtcggcgcc ggggttcggt
       61 ggcctctagt gagatctgga ggatccaagg attctgtagc tacaatgttg tcaagacttt
      121 ttcgaatgca tggcctcttt gtggcctccc atccctggga agtcatagtg gggacagtga
      181 cactgaccat ctgcatgatg tccatgaaca tgtttactgg taacaataag atctgtggtt
      241 ggaattatga atgtccaaag tttgaagagg atgttttgag cagtgacatt ataattctga
      301 caataacacg atgcatagcc atcctgtata tttacttcca gttccagaat ttacgtcaac
      361 ttggatcaaa atatattttg ggtattgctg gccttttcac aattttctca agttttgtat
      421 tcagtacagt tgtcattcac ttcttagaca aagaattgac aggcttgaat gaagctttgc
      481 cctttttcct acttttgatt gacctttcca gagcaagcac attagcaaag tttgccctca
      541 gttccaactc acaggatgaa gtaagggaaa atattgctcg tggaatggca attttaggtc
      601 ctacgtttac cctcgatgct cttgttgaat gtcttgtgat tggagttggt accatgtcag
      661 gggtacgtca gcttgaaatt atgtgctgct ttggctgcat gtcagttctt gccaactact
      721 tcgtgttcat gactttcttc ccagcttgtg tgtccttggt attagagctt tctcgggaaa
      781 gccgcgaggg tcgtccaatt tggcagctca gccattttgc ccgagtttta gaagaagaag
      841 aaaataagcc gaatcctgta actcagaggg tcaagatgat tatgtctcta ggcttggttc
      901 ttgttcatgc tcacagtcgc tggatagctg atccttctcc tcaaaacagt acagcagata
      961 cttctaaggt ttcattagga ctggatgaaa atgtgtccaa gagaattgaa ccaagtgttt
     1021 ccctctggca gttttatctc tctaaaatga tcagcatgga tattgaacaa gttattaccc
     1081 taagtttagc tctccttctg gctgtcaagt acatcttctt tgaacaaaca gagacagaat
     1141 ctacactctc attaaaaaac cctatcacat ctcctgtagt gacacaaaag aaagtcccag
     1201 acaattgttg tagacgtgaa cctatgctgg tcagaaataa ccagaaatgt gattcagtag
     1261 aggaagagac agggataaac cgagaaagaa aagttgaggt tataaaaccc ttagtggctg
     1321 aaacagatac cccaaacaga gctacatttg tggttggtaa ctcctcctta ctcgatactt
     1381 catcagtact ggtgacacag gaacctgaaa ttgaacttcc cagggaacct cggcctaatg
     1441 aagaatgtct acagatactt gggaatgcag agaaaggtgc aaaattcctt agtgatgctg
     1501 agatcatcca gttagtcaat gctaagcata tcccagccta caagttggaa actctgatgg
     1561 aaactcatga gcgtggtgta tctattcgcc gacagttact ttccaagaag ctttcagaac
     1621 cttcttctct ccagtaccta ccttacaggg attataatta ctccttggtg atgggagctt
     1681 gttgtgagaa tgttattgga tatatgccca tccctgttgg agtggcagga cccctttgct
     1741 tagatgaaaa agaatttcag gttccaatgg caacaacaga aggttgtctt gtggccagca
     1801 ccaatagagg ctgcagagca ataggtcttg gtggaggtgc cagcagccga gtccttgcag
     1861 atgggatgac tcgtggccca gttgtgcgtc ttccacgtgc ttgtgactct gcagaagtga
     1921 aagcctggct cgaaacatct gaagggttcg cagtgataaa ggaggcattt gacagcacta
     1981 gcagatttgc acgtctacag aaacttcata caagtatagc tggacgcaac ctttatatcc
     2041 gtttccagtc caggtcaggg gatgccatgg ggatgaacat gatttcaaag ggtacagaga
     2101 aagcactttc aaaacttcac gagtatttcc ctgaaatgca gattctagcc gttagtggta
     2161 actattgtac tgacaagaaa cctgctgcta taaattggat agagggaaga ggaaaatctg
     2221 ttgtttgtga agctgtcatt ccagccaagg ttgtcagaga agtattaaag actaccacag
     2281 aggctatgat tgaggtcaac attaacaaga atttagtggg ctctgccatg gctgggagca
     2341 taggaggcta caacgcccat gcagcaaaca ttgtcaccgc catctacatt gcctgtggac
     2401 aggatgcagc acagaatgtt ggtagttcaa actgtattac tttaatggaa gcaagtggtc
     2461 ccacaaatga agatttatat atcagctgca ccatgccatc tatagagata ggaacggtgg
     2521 gtggtgggac caacctacta cctcagcaag cctgtttgca gatgctaggt gttcaaggag
     2581 catgcaaaga taatcctggg gaaaatgccc ggcagcttgc ccgaattgtg tgtgggaccg
     2641 taatggctgg ggaattgtca cttatggcag cattggcagc aggacatctt gtcaaaagtc
     2701 acatgattca caacaggtcg aagatcaatt tacaagacct ccaaggagct tgcaccaaga
     2761 agacagcctg aatagcccga cagttctgaa ctggaacatg ggcattgggt tctaaaggac
     2821 taacataaaa tctgtgaatt aaaaaagctc aatgcattgt cttgtggagg atgaatagat
     2881 gtgatcactg agacagccac ttggtttttg gctctttcag agaggtctca ggttctttcc
     2941 atgcagactc ctcagatctg aacacagttt agtgctttac atgctgtgct ctttgaagag
     3001 atttcaacaa gaatattgta tgttaaagca tcagagatgg taatctacag ctcacctctg
     3061 aaggcaaata taagctggga aaaaagtttt gatgaaattc ttgaagttca tggtgatcag
     3121 tgcaattgac cttctccctc actcctgcca gttgaaaatg gatttttaaa ttatactgta
     3181 gctgatgaaa ctcctgattt tgtagttaat ttattaagtc tgggatgtag aacttcaaga
     3241 agtaagagct aagttctaag ttcatgtttg taaattaata cttcatttgg tgctggtcta
     3301 ttttgatttt ggggggtaat cagcattatt cttcagaagg ggacctgttt tcttcaaggg
     3361 aagaaacact cttattccca aactacagaa taatgtgtta aacatgctaa atagttctat
     3421 caggaaaaca aatcactgta tttatctccg caggctattt gttcagagag gccttttgtt
     3481 taaatataaa tgtttaaata taaatgtttg tctggattgg ctataacatg tctttcagca
     3541 ttaggctttt aagaaacaca gggttttgta ttctttacta aagatatcag agctcttaat
     3601 gttgcttaga tgagggtgac tgtcaagtac aagcaagact gggaccttag aaatcattgt
     3661 agaaacacag ttttgaaaga aaaataccat gtctctaagc caactttaat tgcttaaaag
     3721 acatttttat ttagttgaaa aatctagttt tttttgtaaa ctgtatcaaa tctgtatatg
     3781 ttgtaataaa acttatgcta gtttattgga agtgttcaag aaataaaaat caacttgtgt
     3841 actgataaaa tactctagcc tgggccagag aagataatgt tctttaatgt tgtccaggaa
     3901 accctggctt gcttgccgag cctaatgaaa gggaaagtca gctttcagag ccagtgaagg
     3961 agccacgtga atggccctag aactgtgcct agttcctgtg gccaggaggt tggtgactga
     4021 aacattcaca cagggctctt tgatggaccc acgaacgctc ttagctttct cagggggtca
     4081 gcagagttat tgaatcttaa ttttttttaa tgtacaagtt ttgtataaat aataaagaac
     4141 tccttatttt gtattacatc taatgcttca agtgttgctc ttggaaagct gatgatgtct
     4201 cttgtagaag atggactctg aaaaacattc caggaaacca tggcagcatg gagagcctct
     4261 tagtgattgt gtctgcattg ttattgtgga agatttacct tttctgttgt acgtaaagct
     4321 taaattgctt ttgttgtgac tttttagcca gtgacttttt ctgagctttt catggaagtg
     4381 gcagtgaaaa atatgttgag tgttcatttt agtgactgta attaatatct tgctggatta
     4441 atgttttgta caattactaa attgtataca ttttgttata gaatactttt ttctagtttc
     4501 agtaaataat gaaaaggaag ttaataccaa
//
LOCUS       NM_000860               2619 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens 15-hydroxyprostaglandin dehydrogenase (HPGD),
            transcript variant 1, mRNA.
ACCESSION   NM_000860
VERSION     NM_000860.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2619)
  AUTHORS   Lu Q, Xu Y, Li S, Zhang Z, Sheng J and Zhang Z.
  TITLE     Clinical and biochemical characteristics of 12 Chinese primary
            hypertrophic osteoarthropathy patients with HPGD mutations
  JOURNAL   Int J Biol Sci 18 (9), 3908-3917 (2022)
   PUBMED   35813463
  REMARK    GeneRIF: Clinical and biochemical characteristics of 12 Chinese
            primary hypertrophic osteoarthropathy patients with HPGD mutations.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2619)
  AUTHORS   Zhang J, Chen W, Ma W, Song K, Lee S, Han C and Wu T.
  TITLE     Epigenetic Silencing of 15-Hydroxyprostaglandin Dehydrogenase by
            Histone Methyltransferase EHMT2/G9a in Cholangiocarcinoma
  JOURNAL   Mol Cancer Res 20 (3), 350-360 (2022)
   PUBMED   34880125
  REMARK    GeneRIF: Epigenetic Silencing of 15-Hydroxyprostaglandin
            Dehydrogenase by Histone Methyltransferase EHMT2/G9a in
            Cholangiocarcinoma.
REFERENCE   3  (bases 1 to 2619)
  AUTHORS   Palla AR, Ravichandran M, Wang YX, Alexandrova L, Yang AV, Kraft P,
            Holbrook CA, Schurch CM, Ho ATV and Blau HM.
  TITLE     Inhibition of prostaglandin-degrading enzyme 15-PGDH rejuvenates
            aged muscle mass and strength
  JOURNAL   Science 371 (6528) (2021)
   PUBMED   33303683
  REMARK    GeneRIF: Inhibition of prostaglandin-degrading enzyme 15-PGDH
            rejuvenates aged muscle mass and strength.
REFERENCE   4  (bases 1 to 2619)
  AUTHORS   Sandoughi M, Saravani M, Rokni M, Nora M, Mehrabani M and Dehghan A.
  TITLE     Association between COX-2 and 15-PGDH polymorphisms and SLE
            susceptibility
  JOURNAL   Int J Rheum Dis 23 (5), 627-632 (2020)
   PUBMED   32100450
  REMARK    GeneRIF: Association between COX-2 and 15-PGDH polymorphisms and SLE
            susceptibility.
REFERENCE   5  (bases 1 to 2619)
  AUTHORS   Zhang S, Liu J, Yang M, Fan D, Gao J, Liu X, Li J, Feng H, Lu H and
            Kang Y.
  TITLE     Single nucleotide polymorphism rs2555639 in 15-PGDH and colorectal
            cancer metastasis
  JOURNAL   J BUON 24 (4), 1507-1511 (2019)
   PUBMED   31646799
  REMARK    GeneRIF: our results suggested that the rs2555639 of 15-PDGH was
            associated with colo-rectal cancer metastasis and should lead to
            further studies to validate the association of rs2555639 with
            predisposition to colorectal cancer metastasis in other groups, as
            well as to investigate the bio-logical functions of rs2555639 in
            colorectal cancer development and metastasis
REFERENCE   6  (bases 1 to 2619)
  AUTHORS   Pichaud F, Frendo JL, Delage-Mourroux R, de Vernejoul MC, Moukhtar
            MS and Jullienne A.
  TITLE     Sequence of a novel mRNA coding for a C-terminal-truncated form of
            human NAD(+)-dependent 15-hydroxyprostaglandin dehydrogenase
  JOURNAL   Gene 162 (2), 319-322 (1995)
   PUBMED   7557451
REFERENCE   7  (bases 1 to 2619)
  AUTHORS   Erwich JJ and Keirse MJ.
  TITLE     Placental localization of 15-hydroxy-prostaglandin dehydrogenase in
            early and term human pregnancy
  JOURNAL   Placenta 13 (3), 223-229 (1992)
   PUBMED   1635910
REFERENCE   8  (bases 1 to 2619)
  AUTHORS   Ensor CM and Tai HH.
  TITLE     Site-directed mutagenesis of the conserved tyrosine 151 of human
            placental NAD(+)-dependent 15-hydroxyprostaglandin dehydrogenase
            yields a catalytically inactive enzyme
  JOURNAL   Biochem Biophys Res Commun 176 (2), 840-845 (1991)
   PUBMED   2025296
REFERENCE   9  (bases 1 to 2619)
  AUTHORS   Ensor CM, Yang JY, Okita RT and Tai HH.
  TITLE     Cloning and sequence analysis of the cDNA for human placental
            NAD(+)-dependent 15-hydroxyprostaglandin dehydrogenase
  JOURNAL   J Biol Chem 265 (25), 14888-14891 (1990)
   PUBMED   1697582
REFERENCE   10  (bases 1 to 2619)
  AUTHORS   Krook M, Marekov L and Jornvall H.
  TITLE     Purification and structural characterization of placental
            NAD(+)-linked 15-hydroxyprostaglandin dehydrogenase. The primary
            structure reveals the enzyme to belong to the short-chain alcohol
            dehydrogenase family
  JOURNAL   Biochemistry 29 (3), 738-743 (1990)
   PUBMED   2337593
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.436478.1, AK058013.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000296522.11/ ENSP00000296522.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC420578.1, BC018986.2,
            AI435471.1 and AC096751.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000860.5.
            Summary: This gene encodes a member of the short-chain
            nonmetalloenzyme alcohol dehydrogenase protein family. The encoded
            enzyme is responsible for the metabolism of prostaglandins, which
            function in a variety of physiologic and cellular processes such as
            inflammation. Mutations in this gene result in primary autosomal
            recessive hypertrophic osteoarthropathy and cranioosteoarthropathy.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Mar 2009].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2619
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q34.1"
     gene            1..2619
                     /gene="HPGD"
                     /gene_synonym="15-PGDH; PGDH; PGDH1; PHOAR1; SDR36C1"
                     /note="15-hydroxyprostaglandin dehydrogenase"
                     /db_xref="GeneID:3248"
                     /db_xref="HGNC:HGNC:5154"
                     /db_xref="MIM:601688"
     CDS             38..838
                     /gene="HPGD"
                     /gene_synonym="15-PGDH; PGDH; PGDH1; PHOAR1; SDR36C1"
                     /EC_number="1.1.1.141"
                     /EC_number="1.1.1.232"
                     /note="isoform 1 is encoded by transcript variant 1;
                     NAD+-dependent 15-hydroxyprostaglandin dehydrogenase;
                     prostaglandin dehydrogenase 1; short chain
                     dehydrogenase/reductase family 36C member 1;
                     hydroxyprostaglandin dehydrogenase 15-(NAD);
                     15-hydroxyprostaglandin dehydrogenase (NAD(+));
                     eicosanoid/docosanoid dehydrogenase"
                     /codon_start=1
                     /product="15-hydroxyprostaglandin dehydrogenase [NAD(+)]
                     isoform 1"
                     /protein_id="NP_000851.2"
                     /db_xref="CCDS:CCDS3821.1"
                     /db_xref="GeneID:3248"
                     /db_xref="HGNC:HGNC:5154"
                     /db_xref="MIM:601688"
                     /translation="MHVNGKVALVTGAAQGIGRAFAEALLLKGAKVALVDWNLEAGVQC
                     KAALDEQFEPQKTLFIQCDVADQQQLRDTFRKVVDHFGRLDILVNNAGVNNEKNWEKTL
                     QINLVSVISGTYLGLDYMSKQNGGEGGIIINMSSLAGLMPVAQQPVYCASKHGIVGFTR
                     SAALAANLMNSGVRLNAICPGFVNTAILESIEKEENMGQYIEYKDHIKDMIKYYGILDP
                     PLIANGLITLIEDDALNGAIMKITTSKGIHFQDYDTTPFQAKTQ"
     regulatory      1694..1699
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPGD"
                     /gene_synonym="15-PGDH; PGDH; PGDH1; PHOAR1; SDR36C1"
                     /note="hexamer: AATAAA"
     polyA_site      1724
                     /gene="HPGD"
                     /gene_synonym="15-PGDH; PGDH; PGDH1; PHOAR1; SDR36C1"
                     /note="major polyA site"
     regulatory      1757..1762
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPGD"
                     /gene_synonym="15-PGDH; PGDH; PGDH1; PHOAR1; SDR36C1"
                     /note="hexamer: AATAAA"
     polyA_site      1781
                     /gene="HPGD"
                     /gene_synonym="15-PGDH; PGDH; PGDH1; PHOAR1; SDR36C1"
                     /note="major polyA site"
     regulatory      2289..2294
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPGD"
                     /gene_synonym="15-PGDH; PGDH; PGDH1; PHOAR1; SDR36C1"
                     /note="hexamer: AGTAAA"
     polyA_site      2314
                     /gene="HPGD"
                     /gene_synonym="15-PGDH; PGDH; PGDH1; PHOAR1; SDR36C1"
     regulatory      2435..2440
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPGD"
                     /gene_synonym="15-PGDH; PGDH; PGDH1; PHOAR1; SDR36C1"
                     /note="hexamer: AATAAA"
     polyA_site      2463
                     /gene="HPGD"
                     /gene_synonym="15-PGDH; PGDH; PGDH1; PHOAR1; SDR36C1"
     regulatory      2541..2546
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPGD"
                     /gene_synonym="15-PGDH; PGDH; PGDH1; PHOAR1; SDR36C1"
                     /note="hexamer: AATAAA"
     polyA_site      2562
                     /gene="HPGD"
                     /gene_synonym="15-PGDH; PGDH; PGDH1; PHOAR1; SDR36C1"
     regulatory      2594..2599
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPGD"
                     /gene_synonym="15-PGDH; PGDH; PGDH1; PHOAR1; SDR36C1"
                     /note="hexamer: ATTAAA"
     polyA_site      2619
                     /gene="HPGD"
                     /gene_synonym="15-PGDH; PGDH; PGDH1; PHOAR1; SDR36C1"
ORIGIN
        1 gagctcgccc accgcccgcc ccagcagtgg ctgcaccatg cacgtgaacg gcaaagtggc
       61 gctggtgacc ggcgcggctc agggcatagg cagagccttt gcagaggcgc tgctgcttaa
      121 gggcgccaag gtagcgctgg tggattggaa tcttgaagca ggtgtacagt gtaaagctgc
      181 cctggatgag cagtttgaac ctcagaagac tctgttcatc cagtgcgatg tggctgacca
      241 gcaacaactg agagacactt ttagaaaagt tgtagaccac tttggaagac tggacatttt
      301 ggtcaataat gctggagtga ataatgagaa aaactgggaa aaaactctgc aaattaattt
      361 ggtttctgtt atcagtggaa cctatcttgg tttggattac atgagtaagc aaaatggagg
      421 tgaaggcggc atcattatca atatgtcatc tttagcagga ctcatgcccg ttgcacagca
      481 gccggtttat tgtgcttcaa agcatggcat agttggattc acacgctcag cagcgttggc
      541 tgctaatctt atgaacagtg gtgtgagact gaatgccatt tgtccaggct ttgttaacac
      601 agccatcctt gaatcaattg aaaaagaaga aaacatggga caatatatag aatataagga
      661 tcatatcaag gatatgatta aatactatgg aattttggac ccaccattga ttgccaatgg
      721 attgataaca ctcattgaag atgatgcttt aaatggtgct attatgaaga tcacaacttc
      781 taagggaatt cattttcaag actatgatac aactccattt caagcaaaaa cccaatgaac
      841 agcttatgtg ttagccatag ctgaaaataa gcacaaatag cttatattca gatcctatct
      901 tcatttgaat atagctttta aatgaaatgt tacagtttga agttttcctt catgcacttg
      961 gtgataaacg ttttctaaat ttttagttaa gtatatggat aaaaagttat gaactattaa
     1021 aaatgtgatg tggaccaaag gctaggttgt aatcttgata gtctaaaaaa tgatcaaaac
     1081 aaatgatttt caaggaatat tcaatattct gcctttcaga aagtgtattt atatctgtgc
     1141 ttcataaata ttaatgttct tcagaacatc attttaaagg agatacttga attgttattt
     1201 aaatcaaacc agatgtaaaa cactcacata caagttcata ctttaaaaga ggaaagctac
     1261 ttaacaatga caaatatttc acaataataa tttttactta tataccatct ttcaactgaa
     1321 catttcagtt cttccaagag cttcttagag tagtatattt tgggggcagt caaggaataa
     1381 actacagtgt aaacatatcc cagatgaaaa ctgctgtatg gaaaaatgac agaaagtaac
     1441 tgattgacac tgttgattca cagttcagcc tcctatctgg gaaagacatt tctttcctct
     1501 gctcacttta agaactttta ccgactccaa aaatctcagg aattaaactt ttaacagtta
     1561 cagcaataaa gaatagttag tactccaaaa atattatatt taagatgctc aacaagaaaa
     1621 aaatgcaaat gtaatatttt tttcaaatta cttctttatt gacttgtcca aatttcaaaa
     1681 gtgcctaccc ttcaataaaa cttttttatt ctgatctcca taaattactt agtcttctat
     1741 gtatagctat caaggaaata aaaccaattt tgccacagcc acaactgtaa atgtttttgt
     1801 acccatgctg aaactcataa caacacagac ataaaaatag ctgtgaggtt ttgctttttt
     1861 tgttgtcagc tatcttaaga atcattaaat acacctgctt tgggtaaaac tctttgcaag
     1921 cagtaattaa cactagtaac agtgaaagca caagatttcc aaatcagtcg ttttctcaaa
     1981 aaaatatcgt ataagtgact catcctgtct gctaactcca gacctcccag cttgaagcca
     2041 aatctttcca tgtgagattg atatggattt cctagaagta ctggaatgtt gtcatatctt
     2101 gccctatttt aattctgcta tagaaaacaa ttgccttcac ttttaaggag taatttgaat
     2161 attaataact ctggtctaga ttttcatata atgtattaaa gacaaagtag tgaacatcaa
     2221 tgaacatctg atagagataa actgtaatca ggcataagct tgtttgtatg ttctggcagt
     2281 gactaatcag taaatgatgt cggtttgccc agtatcactt atcttctgta tttttcctct
     2341 gtcgtgtaaa tagtataacc ttttcattta tggacaattt tttggactag tagccttcaa
     2401 tatacattct gctttgaatt aattttttca aatcaataaa ttatgtagac atttaaaatc
     2461 aaatatcaag tagaattgaa aaatgtgagt tacataagtt aaaaacttac tttaaatctt
     2521 accttctata ggtagctcta aataaattca tatggttata tggcatctct ggtgtatact
     2581 gattgagaaa ataattaaac tgaagttagg ggaggggga
//
LOCUS       NM_000862               1669 bp    mRNA    linear   PRI 19-JUN-2023
DEFINITION  Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and
            steroid delta-isomerase 1 (HSD3B1), mRNA.
ACCESSION   NM_000862
VERSION     NM_000862.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1669)
  AUTHORS   Makretskaya N, Kalinchenko N, Tebieva I, Ionova S, Zinchenko R,
            Marakhonov A and Tiulpakov A.
  TITLE     High carrier frequency of a nonsense p.Trp230* variant in HSD3B2
            gene in Ossetians
  JOURNAL   Front Endocrinol (Lausanne) 14, 1146768 (2023)
   PUBMED   37274334
  REMARK    GeneRIF: High carrier frequency of a nonsense p.Trp230* variant in
            HSD3B2 gene in Ossetians. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1669)
  AUTHORS   Dickson A, Yutuc E, Thornton CA, Dunford JE, Oppermann U, Wang Y and
            Griffiths WJ.
  TITLE     HSD3B1 is an oxysterol 3beta-hydroxysteroid dehydrogenase in human
            placenta
  JOURNAL   Open Biol 13 (5), 220313 (2023)
   PUBMED   37132223
  REMARK    GeneRIF: HSD3B1 is an oxysterol 3beta-hydroxysteroid dehydrogenase
            in human placenta.
REFERENCE   3  (bases 1 to 1669)
  AUTHORS   Chen HM, Hung PY, Chen CH, Yu YJ, Syu MS and Hu MC.
  TITLE     HSD3B1 Expression Is Upregulated by Interleukin 4 in HT-29 Colon
            Cancer Cells via Multiple Signaling Pathways
  JOURNAL   Int J Mol Sci 23 (21), 13572 (2022)
   PUBMED   36362361
  REMARK    GeneRIF: HSD3B1 Expression Is Upregulated by Interleukin 4 in HT-29
            Colon Cancer Cells via Multiple Signaling Pathways. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 1669)
  AUTHORS   McManus JM, Vargas R, Bazeley PS, Schumacher FR and Sharifi N.
  TITLE     Association Between Adrenal-Restrictive HSD3B1 Inheritance and
            Hormone-Independent Subtypes of Endometrial and Breast Cancer
  JOURNAL   JNCI Cancer Spectr 6 (5) (2022)
   PUBMED   35947687
  REMARK    GeneRIF: Association Between Adrenal-Restrictive HSD3B1 Inheritance
            and Hormone-Independent Subtypes of Endometrial and Breast Cancer.
REFERENCE   5  (bases 1 to 1669)
  AUTHORS   Amrousy YM, Haffez H, Abdou DM and Atya HB.
  TITLE     Role of single nucleotide polymorphisms of the HSD3B1 gene (rs6203
            and rs33937873) in the prediction of prostate cancer risk
  JOURNAL   Mol Med Rep 26 (2) (2022)
   PUBMED   35795973
  REMARK    GeneRIF: Role of single nucleotide polymorphisms of the HSD3B1 gene
            (rs6203 and rs33937873) in the prediction of prostate cancer risk.
REFERENCE   6  (bases 1 to 1669)
  AUTHORS   Dumont M, Luu-The V, Dupont E, Pelletier G and Labrie F.
  TITLE     Characterization, expression, and immunohistochemical localization
            of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in
            human skin
  JOURNAL   J Invest Dermatol 99 (4), 415-421 (1992)
   PUBMED   1401999
REFERENCE   7  (bases 1 to 1669)
  AUTHORS   Lachance,Y., Luu-The,V., Labrie,C., Simard,J., Dumont,M., de
            Launoit,Y., Guerin,S., Leblanc,G. and Labrie,F.
  TITLE     Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta
            5-delta 4-isomerase gene and its expression in mammalian cells
  JOURNAL   J Biol Chem 267 (5), 3551 (1992)
   PUBMED   1737804
  REMARK    Correction to:[J Biol Chem. 1990 Nov 25;265(33):20469-75. PMID:
            2243100]
REFERENCE   8  (bases 1 to 1669)
  AUTHORS   Nickson DA, McBride MW, Zeinali S, Hawes CS, Petropoulos A, Mueller
            UW and Sutcliffe RG.
  TITLE     Molecular cloning and expression of human trophoblast antigen
            FDO161G and its identification as 3 beta-hydroxy-5-ene steroid
            dehydrogenase
  JOURNAL   J Reprod Fertil 93 (1), 149-156 (1991)
   PUBMED   1920284
REFERENCE   9  (bases 1 to 1669)
  AUTHORS   Russell AJ, Gaffney D, Gardiner MT, Nickson DA and Sutcliffe RG.
  TITLE     Synonymous polymorphism in the coding sequence of human 3-beta
            hydroxysteroid-5-ene dehydrogenase (HSD)
  JOURNAL   Nucleic Acids Res 19 (5), 1172 (1991)
   PUBMED   1673569
REFERENCE   10  (bases 1 to 1669)
  AUTHORS   Thomas JL, Myers RP and Strickler RC.
  TITLE     Human placental 3 beta-hydroxy-5-ene-steroid dehydrogenase and
            steroid 5----4-ene-isomerase: purification from mitochondria and
            kinetic profiles, biophysical characterization of the purified
            mitochondrial and microsomal enzymes
  JOURNAL   J Steroid Biochem 33 (2), 209-217 (1989)
   PUBMED   2770297
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: S45679.1, AL550307.3 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
            (PMID:2770297)
            MANE Ensembl match :: ENST00000369413.8/ ENSP00000358421.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL544564.3, BC031999.1 and
            X53321.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000862.2.
            Summary: The protein encoded by this gene is an enzyme that
            catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid
            precursors into delta-4-ketosteroids, which leads to the production
            of all classes of steroid hormones. The encoded protein also
            catalyzes the interconversion of 3-beta-hydroxy- and
            3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1669
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p12"
     gene            1..1669
                     /gene="HSD3B1"
                     /gene_synonym="3BETAHSD; HSD3B; HSDB3; HSDB3A; SDR11E1"
                     /note="hydroxy-delta-5-steroid dehydrogenase, 3 beta- and
                     steroid delta-isomerase 1"
                     /db_xref="GeneID:3283"
                     /db_xref="HGNC:HGNC:5217"
                     /db_xref="MIM:109715"
     misc_feature    115..117
                     /gene="HSD3B1"
                     /gene_synonym="3BETAHSD; HSD3B; HSDB3; HSDB3A; SDR11E1"
                     /note="upstream in-frame stop codon"
     misc_feature    133..135
                     /gene="HSD3B1"
                     /gene_synonym="3BETAHSD; HSD3B; HSDB3; HSDB3A; SDR11E1"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MA"
     CDS             139..1260
                     /gene="HSD3B1"
                     /gene_synonym="3BETAHSD; HSD3B; HSDB3; HSDB3A; SDR11E1"
                     /EC_number="1.1.1.145"
                     /EC_number="5.3.3.1"
                     /EC_number="1.1.1.270"
                     /EC_number="1.1.1.210"
                     /note="short chain dehydrogenase/reductase family 11E,
                     member 1; trophoblast antigen FDO161G;
                     delta-5-3-ketosteroid isomerase; progesterone reductase;
                     steroid Delta-isomerase; 3-beta-hydroxy-5-ene steroid
                     dehydrogenase; 3-beta-hydroxy-Delta(5)-steroid
                     dehydrogenase; 3-beta-HSD I; 3 beta-hydroxysteroid
                     dehydrogenase/Delta 5-->4-isomerase type I;
                     dihydrotestosterone oxidoreductase; 3-beta-hydroxysteroid
                     3-dehydrogenase"
                     /codon_start=1
                     /product="3 beta-hydroxysteroid dehydrogenase/Delta
                     5-->4-isomerase type 1"
                     /protein_id="NP_000853.1"
                     /db_xref="CCDS:CCDS903.1"
                     /db_xref="GeneID:3283"
                     /db_xref="HGNC:HGNC:5217"
                     /db_xref="MIM:109715"
                     /translation="MTGWSCLVTGAGGFLGQRIIRLLVKEKELKEIRVLDKAFGPELRE
                     EFSKLQNKTKLTVLEGDILDEPFLKRACQDVSVIIHTACIIDVFGVTHRESIMNVNVKG
                     TQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPAPYPHSKKLAE
                     KAVLAANGWNLKNGGTLYTCALRPMYIYGEGSRFLSASINEALNNNGILSSVGKFSTVN
                     PVYVGNVAWAHILALRALQDPKKAPSIRGQFYYISDDTPHQSYDNLNYTLSKEFGLRLD
                     SRWSFPLSLMYWIGFLLEIVSFLLRPIYTYRPPFNRHIVTLSNSVFTFSYKKAQRDLAY
                     KPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ"
     misc_feature    1000..1062
                     /gene="HSD3B1"
                     /gene_synonym="3BETAHSD; HSD3B; HSDB3; HSDB3A; SDR11E1"
                     /note="propagated from UniProtKB/Swiss-Prot (P14060.2);
                     transmembrane region"
     regulatory      1649..1654
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD3B1"
                     /gene_synonym="3BETAHSD; HSD3B; HSDB3; HSDB3A; SDR11E1"
                     /note="hexamer: AATAAA"
     polyA_site      1669
                     /gene="HSD3B1"
                     /gene_synonym="3BETAHSD; HSD3B; HSDB3; HSDB3A; SDR11E1"
                     /note="major polyA site"
ORIGIN
        1 gaggtgagaa gtacgtccac tcttctgtcc agcttttaac aatctaacta atgccctctc
       61 cagggtcacc ctagaatcag atctgctccc cagcatcttc tgtttcctgg tgagtgattc
      121 ctgctacttt ggatggccat gacgggctgg agctgccttg tgacaggagc aggagggttt
      181 ctgggacaga ggatcatccg cctcttggtg aaggagaagg agctgaagga gatcagggtc
      241 ttggacaagg ccttcggacc agaattgaga gaggaatttt ctaaactcca gaacaagacc
      301 aagctgacag tgctggaagg agacattctg gatgagccat tcctgaagag agcctgccag
      361 gacgtctcgg tcatcatcca caccgcctgt atcattgatg tcttcggtgt cactcacaga
      421 gagtctatca tgaatgtcaa tgtgaaaggt acccagctcc tgttagaggc ctgtgtccaa
      481 gctagtgtgc cagtcttcat ctacaccagt agcatagagg tagccgggcc caactcctac
      541 aaggaaatca tccagaatgg ccatgaagaa gagcctctgg aaaacacatg gcccgctcca
      601 tacccacaca gcaaaaagct tgctgagaag gctgtactgg cggctaacgg gtggaatctg
      661 aaaaacggcg gcaccctgta cacttgtgcc ttacgaccca tgtatatcta tggggaagga
      721 agccgattcc tttctgctag tataaacgag gccctgaaca acaatgggat cctgtcaagt
      781 gttggaaagt tctccactgt taacccagtc tatgttggca atgtggcctg ggcccacatt
      841 ctggccttga gggccctgca ggaccccaag aaggccccaa gcatccgagg acagttctac
      901 tatatctcag atgacacgcc tcaccaaagc tatgataacc ttaattacac cctgagcaaa
      961 gagttcggcc tccgccttga ttccagatgg agctttcctt tatccctgat gtattggatt
     1021 ggcttcctgc tggaaatagt gagcttccta ctcaggccaa tttacaccta tcgaccgccc
     1081 ttcaaccgcc acatagtcac attgtcaaat agcgtattca ccttctctta taagaaggct
     1141 cagcgagatc tggcgtataa gccactctac agctgggagg aagccaagca gaaaacggtg
     1201 gagtgggttg gttcccttgt ggaccggcac aaggagaccc tgaagtccaa gactcagtga
     1261 tttaaggatg acagagatgt gcatgtgggt attgttagga gatgtcatca agctccaccc
     1321 tcctggcctc atacagaaag tgacaagggc acaagctcag gtcctgctgc ctccctttca
     1381 tacaatggcc aacttattgt attcctcatg tcatcaaaac ctgcgcagtc attggcccaa
     1441 caagaaggtt tctgtcctaa tcatatacca gaggaaagac catgtggttt gctgttacca
     1501 aatctcagta gctgattctg aacaatttag ggactctttt aacttgaggg tcgttttgac
     1561 tactagagct ccatttctac tcttaaatga gaaaggattt cctttctttt taatcttcca
     1621 ttccttcaca tagtttgata aaaagatcaa taaatgtttg aatgtttaa
//
LOCUS       NM_000863               2568 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens 5-hydroxytryptamine receptor 1B (HTR1B), mRNA.
ACCESSION   NM_000863
VERSION     NM_000863.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2568)
  AUTHORS   Palumbo S, Mariotti V, Vellucci S, Antonelli K, Anderson N, Harenski
            C, Pietrini P, Kiehl KA and Pellegrini S.
  TITLE     HTR1B genotype and psychopathy: Main effect and interaction with
            paternal maltreatment
  JOURNAL   Psychoneuroendocrinology 144, 105861 (2022)
   PUBMED   35853382
  REMARK    GeneRIF: HTR1B genotype and psychopathy: Main effect and interaction
            with paternal maltreatment.
REFERENCE   2  (bases 1 to 2568)
  AUTHORS   Li Y, Lu Y, Xie Q, Zeng X, Zhang R, Dang W, Zhu Y and Zhang J.
  TITLE     Methylation and expression quantitative trait locus rs6296 in the
            HTR1B gene is associated with susceptibility to opioid use disorder
  JOURNAL   Psychopharmacology (Berl) 239 (8), 2515-2523 (2022)
   PUBMED   35438303
  REMARK    GeneRIF: Methylation and expression quantitative trait locus rs6296
            in the HTR1B gene is associated with susceptibility to opioid use
            disorder. Erratum:[Psychopharmacology (Berl). 2022 Jul 1;:. PMID:
            35776190]
REFERENCE   3  (bases 1 to 2568)
  AUTHORS   Xia X, Ding M, Xuan JF, Xing JX, Yao J, Wu X and Wang BJ.
  TITLE     Functional polymorphisms and transcriptional analysis in the 5'
            region of the human serotonin receptor 1B gene (HTR1B) and their
            associations with psychiatric disorders
  JOURNAL   BMC Psychiatry 20 (1), 499 (2020)
   PUBMED   33036580
  REMARK    GeneRIF: Functional polymorphisms and transcriptional analysis in
            the 5' region of the human serotonin receptor 1B gene (HTR1B) and
            their associations with psychiatric disorders. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 2568)
  AUTHORS   Tabka H, Cheikh A, Maatoug S, Ayeb ME, Bendahhou S and Benkhalifa R.
  TITLE     First Evidence of Kv3.1b Potassium Channel Subtype Expression during
            Neuronal Serotonergic 1C11 Cell Line Development
  JOURNAL   Int J Mol Sci 21 (19), 7175 (2020)
   PUBMED   33003279
  REMARK    GeneRIF: First Evidence of Kv3.1b Potassium Channel Subtype
            Expression during Neuronal Serotonergic 1C11 Cell Line Development.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2568)
  AUTHORS   Gareeva AE, Badretdinov UG, Akhmetova EA, Kinyasheva KO, Nasibullin
            TR, Samigullina LI, Timerbulatov IF, Timerbulatova MF and Asadullin
            AR.
  TITLE     [The role of genetic factors in the development of suicidal behavior
            in individuals with dependence on synthetic cathinones]
  JOURNAL   Zh Nevrol Psikhiatr Im S S Korsakova 120 (10), 69-77 (2020)
   PUBMED   33244961
  REMARK    GeneRIF: [The role of genetic factors in the development of suicidal
            behavior in individuals with dependence on synthetic cathinones].',
            trans 'Rol' geneticheskikh faktorov v razvitii suitsidal'nogo
            povedeniya u lits s zavisimost'yu ot sinteticheskikh katinonov.
REFERENCE   6  (bases 1 to 2568)
  AUTHORS   Zifa E and Fillion G.
  TITLE     5-Hydroxytryptamine receptors
  JOURNAL   Pharmacol Rev 44 (3), 401-458 (1992)
   PUBMED   1359584
  REMARK    Review article
REFERENCE   7  (bases 1 to 2568)
  AUTHORS   Veldman SA and Bienkowski MJ.
  TITLE     Cloning and pharmacological characterization of a novel human
            5-hydroxytryptamine1D receptor subtype
  JOURNAL   Mol Pharmacol 42 (3), 439-444 (1992)
   PUBMED   1328844
REFERENCE   8  (bases 1 to 2568)
  AUTHORS   Demchyshyn L, Sunahara RK, Miller K, Teitler M, Hoffman BJ, Kennedy
            JL, Seeman P, Van Tol HH and Niznik HB.
  TITLE     A human serotonin 1D receptor variant (5HT1D beta) encoded by an
            intronless gene on chromosome 6
  JOURNAL   Proc Natl Acad Sci U S A 89 (12), 5522-5526 (1992)
   PUBMED   1351684
REFERENCE   9  (bases 1 to 2568)
  AUTHORS   Hamblin MW, Metcalf MA, McGuffin RW and Karpells S.
  TITLE     Molecular cloning and functional characterization of a human 5-HT1B
            serotonin receptor: a homologue of the rat 5-HT1B receptor with
            5-HT1D-like pharmacological specificity
  JOURNAL   Biochem Biophys Res Commun 184 (2), 752-759 (1992)
   PUBMED   1315531
REFERENCE   10  (bases 1 to 2568)
  AUTHORS   Jin H, Oksenberg D, Ashkenazi A, Peroutka SJ, Duncan AM, Rozmahel R,
            Yang Y, Mengod G, Palacios JM and O'Dowd BF.
  TITLE     Characterization of the human 5-hydroxytryptamine1B receptor
  JOURNAL   J Biol Chem 267 (9), 5735-5738 (1992)
   PUBMED   1348246
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AK290080.1, SRR1803617.112365.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000369947.5/ ENSP00000358963.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL049595.5.
            On Aug 6, 2019 this sequence version replaced NM_000863.2.
            Summary: The protein encoded by this intronless gene is a G-protein
            coupled receptor for serotonin (5-hydroxytryptamine). Ligand
            binding activates second messengers that inhibit the activity of
            adenylate cyclase and manage the release of serotonin, dopamine,
            and acetylcholine in the brain. The encoded protein may be involved
            in several neuropsychiatric disorders and therefore is often a
            target of antidepressant and other psychotherapeutic drugs.
            [provided by RefSeq, Nov 2015].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..2568
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.1"
     gene            1..2568
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="5-hydroxytryptamine receptor 1B"
                     /db_xref="GeneID:3351"
                     /db_xref="HGNC:HGNC:5287"
                     /db_xref="MIM:182131"
     CDS             89..1261
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="serotonin receptor 1B; serotonin 1D beta receptor;
                     5-hydroxytryptamine (serotonin) receptor 1B, G
                     protein-coupled"
                     /codon_start=1
                     /product="5-hydroxytryptamine receptor 1B"
                     /protein_id="NP_000854.1"
                     /db_xref="CCDS:CCDS4986.1"
                     /db_xref="GeneID:3351"
                     /db_xref="HGNC:HGNC:5287"
                     /db_xref="MIM:182131"
                     /translation="MEEPGAQCAPPPPAGSETWVPQANLSSAPSQNCSAKDYIYQDSIS
                     LPWKVLLVMLLALITLATTLSNAFVIATVYRTRKLHTPANYLIASLAVTDLLVSILVMP
                     ISTMYTVTGRWTLGQVVCDFWLSSDITCCTASILHLCVIALDRYWAITDAVEYSAKRTP
                     KRAAVMIALVWVFSISISLPPFFWRQAKAEEEVSECVVNTDHILYTVYSTVGAFYFPTL
                     LLIALYGRIYVEARSRILKQTPNRTGKRLTRAQLITDSPGSTSSVTSINSRVPDVPSES
                     GSPVYVNQVKVRVSDALLEKKKLMAARERKATKTLGIILGAFIVCWLPFFIISLVMPIC
                     KDACWFHLAIFDFFTWLGYLNSLINPIIYTMSNEDFKQAFHKLIRFKCTS"
     misc_feature    158..160
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28222.1); glycosylation site"
     misc_feature    182..184
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28222.1); glycosylation site"
     misc_feature    236..313
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="propagated from UniProtKB/Swiss-Prot (P28222.1);
                     transmembrane region"
     misc_feature    341..418
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="propagated from UniProtKB/Swiss-Prot (P28222.1);
                     transmembrane region"
     misc_feature    458..523
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="propagated from UniProtKB/Swiss-Prot (P28222.1);
                     transmembrane region"
     misc_feature    524..532
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="propagated from UniProtKB/Swiss-Prot (P28222.1);
                     Region: DRY motif, important for ligand-induced
                     conformation changes and signaling"
     misc_feature    584..649
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="propagated from UniProtKB/Swiss-Prot (P28222.1);
                     transmembrane region"
     misc_feature    704..772
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="propagated from UniProtKB/Swiss-Prot (P28222.1);
                     transmembrane region"
     misc_feature    863..931
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="propagated from UniProtKB/Swiss-Prot (P28222.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1034..1096
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="propagated from UniProtKB/Swiss-Prot (P28222.1);
                     transmembrane region"
     misc_feature    1136..1201
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="propagated from UniProtKB/Swiss-Prot (P28222.1);
                     transmembrane region"
     misc_feature    1151..1153
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="Important for species-specific agonist sensitivity;
                     propagated from UniProtKB/Swiss-Prot (P28222.1); other
                     site"
     misc_feature    1181..1195
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="propagated from UniProtKB/Swiss-Prot (P28222.1);
                     Region: NPxxY motif, important for ligand-induced
                     conformation changes and signaling"
     regulatory      2240..2245
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="hexamer: AATATA"
     polyA_site      2264
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="major polyA site"
     regulatory      2550..2555
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
                     /note="hexamer: AATAAA"
     polyA_site      2568
                     /gene="HTR1B"
                     /gene_synonym="5-HT-1B; 5-HT-1D-beta; 5-HT1B; 5-HT1DB;
                     HTR1D2; HTR1DB; S12"
ORIGIN
        1 aaacctgcga tcgccacggt ccttccgccc tctccttcgt ccgctccatg cccaagagct
       61 gcgctccgga gctggggcga ggagagccat ggaggaaccg ggtgctcagt gcgctccacc
      121 gccgcccgcg ggctccgaga cctgggttcc tcaagccaac ttatcctctg ctccctccca
      181 aaactgcagc gccaaggact acatttacca ggactccatc tccctaccct ggaaagtact
      241 gctggttatg ctattggcgc tcatcacctt ggccaccacg ctctccaatg cctttgtgat
      301 tgccacagtg taccggaccc ggaaactgca caccccggct aactacctga tcgcctctct
      361 ggcggtcacc gacctgcttg tgtccatcct ggtgatgccc atcagcacca tgtacactgt
      421 caccggccgc tggacactgg gccaggtggt ctgtgacttc tggctgtcgt cggacatcac
      481 ttgttgcact gcctccatcc tgcacctctg tgtcatcgcc ctggaccgct actgggccat
      541 cacggacgcc gtggagtact cagctaaaag gactcccaag agggcggcgg tcatgatcgc
      601 gctggtgtgg gtcttctcca tctctatctc gctgccgccc ttcttctggc gtcaggctaa
      661 ggccgaagag gaggtgtcgg aatgcgtggt gaacaccgac cacatcctct acacggtcta
      721 ctccacggtg ggtgctttct acttccccac cctgctcctc atcgccctct atggccgcat
      781 ctacgtagaa gcccgctccc ggattttgaa acagacgccc aacaggaccg gcaagcgctt
      841 gacccgagcc cagctgataa ccgactcccc cgggtccacg tcctcggtca cctctattaa
      901 ctcgcgggtt cccgacgtgc ccagcgaatc cggatctcct gtgtatgtga accaagtcaa
      961 agtgcgagtc tccgacgccc tgctggaaaa gaagaaactc atggccgcta gggagcgcaa
     1021 agccaccaag accctaggga tcattttggg agcctttatt gtgtgttggc tacccttctt
     1081 catcatctcc ctagtgatgc ctatctgcaa agatgcctgc tggttccacc tagccatctt
     1141 tgacttcttc acatggctgg gctatctcaa ctccctcatc aaccccataa tctataccat
     1201 gtccaatgag gactttaaac aagcattcca taaactgata cgttttaagt gcacaagttg
     1261 acttgccgtt tgcagtgggg tcgcctaagc gacctttggg gaccaagttg tgtctggttc
     1321 cacaggtagg tcgaatcttc tttcgcggtt tctgggtccc agcgaggctc tctctcctgg
     1381 gcaagggcaa tggatcctga gaagccagaa tagtcctgag agagagctct gaaaggagaa
     1441 gtgttgaaac taaatgtaga gcttccctgc ccaggaggag gctcacttcc tcccctcaag
     1501 ccccgggctc agcactgacc ctgcggcagc caatcccaaa gggggttgca acttttaaaa
     1561 attgataatg gaagggaatc cctgccctgc tttggtatcg tggataatgc ccactagaag
     1621 cagtgtactt gtaattgttg tctgaagcct gtctgagaca gatctacata cagcctggca
     1681 gtacttgaac tagacgctta atgccctgtg tttttggggg gagaactttg tgttacagct
     1741 taatttaaga acagttactt tggcatcatt cagtcttcac tttttgtcta tttaaacttg
     1801 gttggagaaa cttgtggatt tggtgcttca aaccctatgt gtggcttgga tggcgcagag
     1861 aaaccttgaa gagttaacag caaaattctg atgctgagat ctctattttt attatacttg
     1921 aaactatatg ggggtgggtg ggtgggaatg ggagatgagg agtgttaaac tgagaatcaa
     1981 cacctatgat tgtttgtttt ctgcagattt acaattttgt aattcctgtt tagcgattgt
     2041 caagccacaa ctctaacaaa caaaccatta tgtgtgctag tgccgaagtc tgcagactgc
     2101 tttatttttt ctcttaattt catgtacctg tcactttaca catttaaatc cccataaatg
     2161 aagggtatga tgggtgactc agcccacact gctgctatat ttcttactaa tgcaattggt
     2221 aaaaccgatt agtattggaa atatactgtt tcttaacaag aaaagtgtct ttatttctta
     2281 tccaatttag tgagatgtga aggagactga tgacatgggg atagttctta cacaattgag
     2341 gaatggggtg ggggcaatag gaggatgtat attttgactt gtaaaaaaat cttaaaatgc
     2401 atgaaacttt tatctgatag tcatttgcac tctccttccc atctgtgatt ccttgtgtgc
     2461 taacatataa agaaaccaag agaactatct tccttctcca gaaaccttaa aaatacagtt
     2521 aagggcccta aaaacgatat tgaaaagaaa ataaacttgt ttcttttt
//
LOCUS       NM_000864               3319 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens 5-hydroxytryptamine receptor 1D (HTR1D), mRNA.
ACCESSION   NM_000864
VERSION     NM_000864.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3319)
  AUTHORS   Jin X, Li H, Li B, Zhang C and He Y.
  TITLE     Knockdown and inhibition of hydroxytryptamine receptor 1D suppress
            proliferation and migration of gastric cancer cells
  JOURNAL   Biochem Biophys Res Commun 620, 143-149 (2022)
   PUBMED   35785570
  REMARK    GeneRIF: Knockdown and inhibition of hydroxytryptamine receptor 1D
            suppress proliferation and migration of gastric cancer cells.
REFERENCE   2  (bases 1 to 3319)
  AUTHORS   Wu W, Li Q, Zhu Z, Li C, Lu P, Zhou X, Huang Y, Liu Y, Wang M and
            Gong J.
  TITLE     HTR1D functions as a key target of HOXA10-AS/miR-340-3p axis to
            promote the malignant outcome of pancreatic cancer via PI3K-AKT
            signaling pathway
  JOURNAL   Int J Biol Sci 18 (9), 3777-3794 (2022)
   PUBMED   35813473
  REMARK    GeneRIF: HTR1D functions as a key target of HOXA10-AS/miR-340-3p
            axis to promote the malignant outcome of pancreatic cancer via
            PI3K-AKT signaling pathway. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3319)
  AUTHORS   Zuo X, Chen Z, Cai J, Gao W, Zhang Y, Han G, Pu L, Wu Z, You W, Qin
            J, Dai X, Shen H, Wu J and Wang X.
  TITLE     5-Hydroxytryptamine Receptor 1D Aggravates Hepatocellular Carcinoma
            Progression Through FoxO6 in AKT-Dependent and Independent Manners
  JOURNAL   Hepatology 69 (5), 2031-2047 (2019)
   PUBMED   30561038
  REMARK    GeneRIF: significantly promotes hepatocellular carcinoma (HCC)
            proliferation, epithelial-mesenchymal transition, and metastasis;
            elevated expression level predicts poor overall survival and high
            recurrence probability in HCC patients
REFERENCE   4  (bases 1 to 3319)
  AUTHORS   Sui H, Xu H, Ji Q, Liu X, Zhou L, Song H, Zhou X, Xu Y, Chen Z, Cai
            J, Ji G and Li Q.
  TITLE     5-hydroxytryptamine receptor (5-HT1DR) promotes colorectal cancer
            metastasis by regulating Axin1/beta-catenin/MMP-7 signaling pathway
  JOURNAL   Oncotarget 6 (28), 25975-25987 (2015)
   PUBMED   26214021
  REMARK    GeneRIF: Data show that 5-hydroxytryptamine receptor (5-HT1DR)
            played an important role in cell invasion via
            Axin1/beta-catenin/matrix metalloproteinase 7 (MMP-7) pathway.
REFERENCE   5  (bases 1 to 3319)
  AUTHORS   Bennet H, Balhuizen A, Medina A, Dekker Nitert M, Ottosson Laakso E,
            Essen S, Spegel P, Storm P, Krus U, Wierup N and Fex M.
  TITLE     Altered serotonin (5-HT) 1D and 2A receptor expression may
            contribute to defective insulin and glucagon secretion in human type
            2 diabetes
  JOURNAL   Peptides 71, 113-120 (2015)
   PUBMED   26206285
  REMARK    GeneRIF: results suggest that 5-HT signaling participates in
            regulation of overall islet hormone secretion in non- diabetic
            individuals and over-expression of HTR1D and HTR2A may either
            contribute to islet dysfunction in T2D
REFERENCE   6  (bases 1 to 3319)
  AUTHORS   Hamblin MW, Metcalf MA, McGuffin RW and Karpells S.
  TITLE     Molecular cloning and functional characterization of a human 5-HT1B
            serotonin receptor: a homologue of the rat 5-HT1B receptor with
            5-HT1D-like pharmacological specificity
  JOURNAL   Biochem Biophys Res Commun 184 (2), 752-759 (1992)
   PUBMED   1315531
REFERENCE   7  (bases 1 to 3319)
  AUTHORS   Weinshank RL, Zgombick JM, Macchi MJ, Branchek TA and Hartig PR.
  TITLE     Human serotonin 1D receptor is encoded by a subfamily of two
            distinct genes: 5-HT1D alpha and 5-HT1D beta
  JOURNAL   Proc Natl Acad Sci U S A 89 (8), 3630-3634 (1992)
   PUBMED   1565658
REFERENCE   8  (bases 1 to 3319)
  AUTHORS   Libert F, Passage E, Parmentier M, Simons MJ, Vassart G and Mattei
            MG.
  TITLE     Chromosomal mapping of A1 and A2 adenosine receptors, VIP receptor,
            and a new subtype of serotonin receptor
  JOURNAL   Genomics 11 (1), 225-227 (1991)
   PUBMED   1662665
  REMARK    Erratum:[Genomics 1994 Sep 1;23(1):305]
REFERENCE   9  (bases 1 to 3319)
  AUTHORS   Hamblin MW and Metcalf MA.
  TITLE     Primary structure and functional characterization of a human
            5-HT1D-type serotonin receptor
  JOURNAL   Mol Pharmacol 40 (2), 143-148 (1991)
   PUBMED   1652050
REFERENCE   10  (bases 1 to 3319)
  AUTHORS   Libert F, Parmentier M, Lefort A, Dinsart C, Van Sande J, Maenhaut
            C, Simons MJ, Dumont JE and Vassart G.
  TITLE     Selective amplification and cloning of four new members of the G
            protein-coupled receptor family
  JOURNAL   Science 244 (4904), 569-572 (1989)
   PUBMED   2541503
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853566.419.1,
            SRR1803612.167795.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144835,
            SAMEA2153733 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374619.2/ ENSP00000363748.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL353585.34 and AL049576.19.
            On Jun 8, 2020 this sequence version replaced NM_000864.4.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3319
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     gene            1..3319
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="5-hydroxytryptamine receptor 1D"
                     /db_xref="GeneID:3352"
                     /db_xref="HGNC:HGNC:5289"
                     /db_xref="MIM:182133"
     misc_feature    914..916
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="upstream in-frame stop codon"
     CDS             995..2128
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="5-HT-1D; 5-HT-1D-alpha; serotonin receptor 1D;
                     serotonin 1D alpha receptor; 5-hydroxytryptamine
                     (serotonin) receptor 1D, G protein-coupled"
                     /codon_start=1
                     /product="5-hydroxytryptamine receptor 1D"
                     /protein_id="NP_000855.1"
                     /db_xref="CCDS:CCDS231.1"
                     /db_xref="GeneID:3352"
                     /db_xref="HGNC:HGNC:5289"
                     /db_xref="MIM:182133"
                     /translation="MSPLNQSAEGLPQEASNRSLNATETSEAWDPRTLQALKISLAVVL
                     SVITLATVLSNAFVLTTILLTRKLHTPANYLIGSLATTDLLVSILVMPISIAYTITHTW
                     NFGQILCDIWLSSDITCCTASILHLCVIALDRYWAITDALEYSKRRTAGHAATMIAIVW
                     AISICISIPPLFWRQAKAQEEMSDCLVNTSQISYTIYSTCGAFYIPSVLLIILYGRIYR
                     AARNRILNPPSLYGKRFTTAHLITGSAGSSLCSLNSSLHEGHSHSAGSPLFFNHVKIKL
                     ADSALERKRISAARERKATKILGIILGAFIICWLPFFVVSLVLPICRDSCWIHPALFDF
                     FTWLGYLNSLINPIIYTVFNEEFRQAFQKIVPFRKAS"
     misc_feature    995..1063
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P28221.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1007..1009
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28221.1); glycosylation site"
     misc_feature    1043..1045
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28221.1); glycosylation site"
     misc_feature    1055..1057
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28221.1); glycosylation site"
     misc_feature    1109..1186
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P28221.1);
                     transmembrane region"
     misc_feature    1220..1288
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P28221.1);
                     transmembrane region"
     misc_feature    1331..1396
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P28221.1);
                     transmembrane region"
     misc_feature    1397..1405
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P28221.1);
                     Region: DRY motif, important for ligand-induced
                     conformation changes. /evidence=ECO:0000250"
     misc_feature    1457..1522
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P28221.1);
                     transmembrane region"
     misc_feature    1577..1645
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P28221.1);
                     transmembrane region"
     misc_feature    1901..1972
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P28221.1);
                     transmembrane region"
     misc_feature    2000..2074
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P28221.1);
                     transmembrane region"
     misc_feature    2048..2062
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="propagated from UniProtKB/Swiss-Prot (P28221.1);
                     Region: NPxxY motif, important for ligand-induced
                     conformation changes and signaling. /evidence=ECO:0000250"
     misc_feature    1007..1015
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="glycosylation site"
     misc_feature    1043..1051
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="glycosylation site"
     misc_feature    1055..1063
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="glycosylation site"
     regulatory      3293..3298
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="hexamer: AATAAA"
     polyA_site      3319
                     /gene="HTR1D"
                     /gene_synonym="5-HT1D; HT1DA; HTR1DA; HTRL; RDC4"
                     /note="major polyA site"
ORIGIN
        1 ggagaaggag ccgcagggct ctgggagagg cggaggcagg tgcgggatcg cgagggcgcg
       61 agccggaaag ggccccgggg cggcggggcg ggcggccccc gagttcggcg ggggtcgcgg
      121 cggagacaag gcggccgcga cggggagacg ccgcgcgagg aagtggatcg ggcgggtacg
      181 ccgggtgtgc gcacctgccc gccgggcagc ggatcttctg aatgtgtccc tgctctgtga
      241 gcccacagtg atctgtttgt tttgcctggt cccagcttat gcattcttcg agtcttggta
      301 accaggatgt tttgtctgtt caggctctaa aacgatcagt gggataggaa ccgaagttaa
      361 gtagctcagg atgcgtcaag atgaacctgg gaaaaccgcg agctgctgtg ctgactggac
      421 tgcttctctg aatcggctgg aacttctttt tgtgtctagt tttaaaagct cctcagaagc
      481 aaccctaaat ccagaatcgt ttcaattact gtgaggggaa ttctgaagtt ctcattaaac
      541 acacgaatgt ctcaagcttt gaaaagagcc agatgccaaa ggcaagaatc ccagggcatt
      601 gcccacctgg gtgtgatccc ctgataattg tctaacaaat tcagcatgtg tcccctgggc
      661 atgaccatct gctgggaaaa gttccaggac cctgagacat cttgggattc ctgtggttta
      721 ggaaagacct ttaactacca gctggtagtt gtctcagcat tcttcaaata gtccggtctt
      781 gtttaatatt attattatta ttgttattta attttatttt attgcaactg tacttagaga
      841 atagtctggt cttgagacct tttcactgtg gtctgttctg gtgtacggct cccaccagtg
      901 tgaagcagaa ggatgacttt gctctgttgt caggacaacc ttgaaggaag gagccaaatg
      961 tgtggaggtc tgtgggaaga gagagccacc tagcatgtcc ccactgaacc agtcagcaga
     1021 aggccttccc caggaggcct ccaacagatc cctgaatgcc acagaaacct cagaggcttg
     1081 ggatcccagg accctccagg cgctcaagat ctcccttgcc gtggtccttt ccgtcatcac
     1141 actggccaca gtcctctcca atgcctttgt actcaccacc atcttactca ccaggaagct
     1201 ccacacccct gccaactacc tgattggctc cctggccacc accgacctct tggtttccat
     1261 cttggtaatg cccatcagca tcgcctatac catcacccac acctggaact ttggccaaat
     1321 cttgtgtgac atctggctgt cctctgacat cacgtgctgc acagcctcca tcctgcatct
     1381 ctgtgtcatt gctctggaca ggtactgggc aatcacagat gccctggaat acagtaaacg
     1441 caggacggct ggccacgcgg ccaccatgat cgccattgtc tgggccatct ccatctgcat
     1501 ctccatcccc ccgctcttct ggcggcaggc caaggcccag gaggagatgt cggactgtct
     1561 ggtgaacacc tctcagatct cctacaccat ctactccacc tgtggggcct tctacattcc
     1621 ctcggtgttg ctcatcatcc tatatggccg gatctaccgg gctgcccgga accgcatcct
     1681 gaatccaccc tcactctatg ggaagcgctt caccacggcc cacctcatca caggctctgc
     1741 cgggtcctcg ctctgctcgc tcaactccag cctccatgag gggcactcgc actcggctgg
     1801 ctcccctctc tttttcaacc acgtgaaaat caagcttgct gacagtgccc tggaacgcaa
     1861 gaggatttct gctgctcgag aaaggaaagc cactaaaatc ctgggcatca ttctgggggc
     1921 ctttatcatc tgctggctgc ccttcttcgt ggtgtctctg gtcctcccca tctgccggga
     1981 ctcctgctgg atccacccgg cgctctttga cttcttcacc tggctaggct atttaaactc
     2041 cctcatcaat ccaataatct acactgtgtt taatgaagag tttcggcaag cttttcagaa
     2101 aattgtccct ttccggaagg cctcctagtc ttattcggtg atgactcttg ttatcttttg
     2161 tgtcctgtaa cctcatcggg attgtctttt ttttttttaa ttattttctg agacttggat
     2221 taattcatgg tatcttgagt cttggttcaa tcaacagaat tgttcttttt cctgttgttt
     2281 tcttaacttc tgaaagagct gtgggtggtg gggggcgggg ggcaggactg aagatttcac
     2341 tacttagcat aatattttct ttcttttttt ttttttttga gacggagtct tgccctctcg
     2401 ccaggctgga gtgtagtggc acaatctcag ctcactgcaa cctccgcatc ccgggttcaa
     2461 gagattctgc ctcagcctcc agagtagctg ggactacaaa cgtgtgtcac caggcccagc
     2521 taatttttgt atttttaata aagacggggt ttcatcatgt tggccagggt ggtctcgatc
     2581 tcttgacctc gtgatccgcc cgcctcagca tcccaaagtg ctgggattac aggcatgagc
     2641 cactgtgcct ggccaacata atgttttcac agttcctctt tgttggaaga agtgtgtgac
     2701 ctacaagatt cctggttgat acagttcagg tgagaaactg tttgattata gaaaagaccc
     2761 cagactcaga gggaaggctc tctggtctac ctgagatcta tatggagctt aaaggagggt
     2821 gaataagatt aatgacctga attgaaagag aatttggagc caggatgggt ctccattctg
     2881 tgtggcacct tgattggaaa ataatatcca tgcgtttctt ccactgagtc tttcttagat
     2941 taaatctctc ccagttgtcc gtgaagagaa agacagtatt tgcagtgccg atgatataga
     3001 gtgacttgga gagagattca gaagttaggg gtagcggggg taggatggtt gggaccagat
     3061 tgactaccct gtacccttcc ttcttcccca atatgcctgc gccatcttca cattctgaag
     3121 ttgaaaccca tgatcacccc tttgaggtag attgaccggc tttagacgcc caccccccac
     3181 ccaccgcaag ctttgagtgg gacaccattc tgaatttttt ttctgaattt ttttttaaca
     3241 tctctttctc attagagatc tgaaaactca ttagagatgt tgagtcttat caaataaaaa
     3301 gcatgagaca tcatggcca
//
LOCUS       NM_000865               1826 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens 5-hydroxytryptamine receptor 1E (HTR1E), mRNA.
ACCESSION   NM_000865
VERSION     NM_000865.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1826)
  AUTHORS   Sharma VK, Yang X, Kim SK, Mafi A, Saiz-Sanchez D,
            Villanueva-Anguita P, Xiao L, Inoue A, Goddard WA 3rd and Loh YP.
  TITLE     Novel interaction between neurotrophic
            factor-alpha1/carboxypeptidase E and serotonin receptor, 5-HTR1E,
            protects human neurons against oxidative/neuroexcitotoxic stress via
            beta-arrestin/ERK signaling
  JOURNAL   Cell Mol Life Sci 79 (1), 24 (2021)
   PUBMED   34966948
  REMARK    GeneRIF: Novel interaction between neurotrophic
            factor-alpha1/carboxypeptidase E and serotonin receptor, 5-HTR1E,
            protects human neurons against oxidative/neuroexcitotoxic stress via
            beta-arrestin/ERK signaling. Erratum:[Cell Mol Life Sci. 2023 Feb
            20;80(3):65. PMID: 36808009] Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1826)
  AUTHORS   Qin X, Li J, Wang S, Lv J, Luan F, Liu Y, Chen Y, Chen X, Zhao Y,
            Zhu J, Piao Y, Zhang W, Shi Y, Xiang R, Qu P and Wang L.
  TITLE     Serotonin/HTR1E signaling blocks chronic stress-promoted progression
            of ovarian cancer
  JOURNAL   Theranostics 11 (14), 6950-6965 (2021)
   PUBMED   34093864
  REMARK    GeneRIF: Serotonin/HTR1E signaling blocks chronic stress-promoted
            progression of ovarian cancer. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1826)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1826)
  AUTHORS   Klein MT, Dukat M, Glennon RA and Teitler M.
  TITLE     Toward selective drug development for the human 5-hydroxytryptamine
            1E receptor: a comparison of 5-hydroxytryptamine 1E and 1F receptor
            structure-affinity relationships
  JOURNAL   J Pharmacol Exp Ther 337 (3), 860-867 (2011)
   PUBMED   21422162
REFERENCE   5  (bases 1 to 1826)
  AUTHORS   Corominas R, Sobrido MJ, Ribases M, Cuenca-Leon E, Blanco-Arias P,
            Narberhaus B, Roig M, Leira R, Lopez-Gonzalez J, Macaya A and
            Cormand B.
  TITLE     Association study of the serotoninergic system in migraine in the
            Spanish population
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 153B (1), 177-184 (2010)
   PUBMED   19455600
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 1826)
  AUTHORS   Levy FO, Holtgreve-Grez H, Tasken K, Solberg R, Ried T and Gudermann
            T.
  TITLE     Assignment of the gene encoding the 5-HT1E serotonin receptor (S31)
            (locus HTR1E) to human chromosome 6q14-q15
  JOURNAL   Genomics 22 (3), 637-640 (1994)
   PUBMED   8001977
REFERENCE   7  (bases 1 to 1826)
  AUTHORS   Zgombick JM, Schechter LE, Macchi M, Hartig PR, Branchek TA and
            Weinshank RL.
  TITLE     Human gene S31 encodes the pharmacologically defined serotonin
            5-hydroxytryptamine1E receptor
  JOURNAL   Mol Pharmacol 42 (2), 180-185 (1992)
   PUBMED   1513320
REFERENCE   8  (bases 1 to 1826)
  AUTHORS   McAllister G, Charlesworth A, Snodin C, Beer MS, Noble AJ,
            Middlemiss DN, Iversen LL and Whiting P.
  TITLE     Molecular cloning of a serotonin receptor from human brain (5HT1E):
            a fifth 5HT1-like subtype
  JOURNAL   Proc Natl Acad Sci U S A 89 (12), 5517-5521 (1992)
   PUBMED   1608964
REFERENCE   9  (bases 1 to 1826)
  AUTHORS   Levy FO, Gudermann T, Birnbaumer M, Kaumann AJ and Birnbaumer L.
  TITLE     Molecular cloning of a human gene (S31) encoding a novel serotonin
            receptor mediating inhibition of adenylyl cyclase
  JOURNAL   FEBS Lett 296 (2), 201-206 (1992)
   PUBMED   1733778
REFERENCE   10  (bases 1 to 1826)
  AUTHORS   Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M and Kaziro Y.
  TITLE     Presence of three distinct molecular species of Gi protein alpha
            subunit. Structure of rat cDNAs and human genomic DNAs
  JOURNAL   J Biol Chem 263 (14), 6656-6664 (1988)
   PUBMED   2834384
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.49482.1,
            SRR1660805.202329.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142586,
            SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000305344.7/ ENSP00000307766.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL521170.3, AL157777.5, BC069751.1 and M91467.1.
            On Nov 23, 2018 this sequence version replaced NM_000865.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1826
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.3"
     gene            1..1826
                     /gene="HTR1E"
                     /gene_synonym="5-HT1E"
                     /note="5-hydroxytryptamine receptor 1E"
                     /db_xref="GeneID:3354"
                     /db_xref="HGNC:HGNC:5291"
                     /db_xref="MIM:182132"
     misc_feature    467..469
                     /gene="HTR1E"
                     /gene_synonym="5-HT1E"
                     /note="upstream in-frame stop codon"
     CDS             482..1579
                     /gene="HTR1E"
                     /gene_synonym="5-HT1E"
                     /note="S31; 5-HT-1E; serotonin receptor 1E;
                     5-hydroxytryptamine (serotonin) receptor 1E, G
                     protein-coupled"
                     /codon_start=1
                     /product="5-hydroxytryptamine receptor 1E"
                     /protein_id="NP_000856.1"
                     /db_xref="CCDS:CCDS5006.1"
                     /db_xref="GeneID:3354"
                     /db_xref="HGNC:HGNC:5291"
                     /db_xref="MIM:182132"
                     /translation="MNITNCTTEASMAIRPKTITEKMLICMTLVVITTLTTLLNLAVIM
                     AIGTTKKLHQPANYLICSLAVTDLLVAVLVMPLSIIYIVMDRWKLGYFLCEVWLSVDMT
                     CCTCSILHLCVIALDRYWAITNAIEYARKRTAKRAALMILTVWTISIFISMPPLFWRSH
                     RRLSPPPSQCTIQHDHVIYTIYSTLGAFYIPLTLILILYYRIYHAAKSLYQKRGSSRHL
                     SNRSTDSQNSFASCKLTQTFCVSDFSTSDPTTEFEKFHASIRIPPFDNDLDHPGERQQI
                     SSTRERKAARILGLILGAFILSWLPFFIKELIVGLSIYTVSSEVADFLTWLGYVNSLIN
                     PLLYTSFNEDFKLAFKKLIRCREHT"
     misc_feature    485..487
                     /gene="HTR1E"
                     /gene_synonym="5-HT1E"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28566.1); glycosylation site"
     misc_feature    494..496
                     /gene="HTR1E"
                     /gene_synonym="5-HT1E"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28566.1); glycosylation site"
     misc_feature    548..622
                     /gene="HTR1E"
                     /gene_synonym="5-HT1E"
                     /note="propagated from UniProtKB/Swiss-Prot (P28566.1);
                     transmembrane region"
     misc_feature    659..727
                     /gene="HTR1E"
                     /gene_synonym="5-HT1E"
                     /note="propagated from UniProtKB/Swiss-Prot (P28566.1);
                     transmembrane region"
     misc_feature    770..835
                     /gene="HTR1E"
                     /gene_synonym="5-HT1E"
                     /note="propagated from UniProtKB/Swiss-Prot (P28566.1);
                     transmembrane region"
     misc_feature    836..844
                     /gene="HTR1E"
                     /gene_synonym="5-HT1E"
                     /note="propagated from UniProtKB/Swiss-Prot (P28566.1);
                     Region: DRY motif, important for ligand-induced
                     conformation changes. /evidence=ECO:0000250"
     misc_feature    896..958
                     /gene="HTR1E"
                     /gene_synonym="5-HT1E"
                     /note="propagated from UniProtKB/Swiss-Prot (P28566.1);
                     transmembrane region"
     misc_feature    1019..1087
                     /gene="HTR1E"
                     /gene_synonym="5-HT1E"
                     /note="propagated from UniProtKB/Swiss-Prot (P28566.1);
                     transmembrane region"
     misc_feature    1355..1423
                     /gene="HTR1E"
                     /gene_synonym="5-HT1E"
                     /note="propagated from UniProtKB/Swiss-Prot (P28566.1);
                     transmembrane region"
     misc_feature    1454..1522
                     /gene="HTR1E"
                     /gene_synonym="5-HT1E"
                     /note="propagated from UniProtKB/Swiss-Prot (P28566.1);
                     transmembrane region"
     misc_feature    1499..1513
                     /gene="HTR1E"
                     /gene_synonym="5-HT1E"
                     /note="propagated from UniProtKB/Swiss-Prot (P28566.1);
                     Region: NPxxY motif, important for ligand-induced
                     conformation changes and signaling. /evidence=ECO:0000250"
     regulatory      1803..1808
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HTR1E"
                     /gene_synonym="5-HT1E"
                     /note="hexamer: AATAAA"
     polyA_site      1826
                     /gene="HTR1E"
                     /gene_synonym="5-HT1E"
                     /note="major polyA site"
ORIGIN
        1 agtccaggcg cccagactcg gcgaagcgca gcgcctgcca ccagcggtgc ctcgggctgc
       61 ccggcgcgcc gcgctcccag gttctgtctc gccgcacccc ggcgggcact ggcgcgggca
      121 aggacgctgg cggggagaac gccctgggct caacgtactc cagaatcgaa tgttgagaga
      181 agcagtgctc tgatccagct caggagaaaa aggagcgggt tccgagtgag acttctggag
      241 ccagctggac gtgccggttt gcccagtgcg gcgcggctgc acgcaccgtc cacaaggaac
      301 cttcactcag aagaaatgct gtggcccttc cctttaccaa cagaaaatgg aacacaagag
      361 accacatagc tgaacaaatt atagcctcct tacaagtgag aaaccttcga ggctacatag
      421 ttttcagcca aaggaaaata accaacagct tctccacagt gtagactgaa acaagggaaa
      481 catgaacatc acaaactgta ccacagaggc cagcatggct ataagaccca agaccatcac
      541 tgagaagatg ctcatttgca tgactctggt ggtcatcacc accctcacca cgttgctgaa
      601 cttggctgtg atcatggcta ttggcaccac caagaagctc caccagcctg ccaactacct
      661 aatctgttct ctggccgtga cggacctcct ggtggcagtg ctcgtcatgc ccctgagcat
      721 catctacatt gtcatggatc gctggaagct tgggtacttc ctctgtgagg tgtggctgag
      781 tgtggacatg acctgctgca cctgctccat cctccacctc tgtgtcattg ccctggacag
      841 gtactgggcc atcaccaatg ctattgaata cgccaggaag aggacggcca agagggccgc
      901 gctgatgatc cttaccgtct ggaccatctc cattttcatc tccatgcccc ctctgttctg
      961 gagaagccac cgccgcctaa gccctccccc tagtcagtgc accatccagc acgaccatgt
     1021 tatctacacc atttactcca cgctgggtgc gttttatatc cccttgactt tgatactgat
     1081 tctctattac cggatttacc acgcggccaa gagcctttac cagaaaaggg gatcaagtcg
     1141 gcacttaagc aacagaagca cagatagcca gaattctttt gcaagttgta aacttacaca
     1201 gactttctgt gtgtctgact tctccacctc agaccctacc acagagtttg aaaagttcca
     1261 tgcctccatc aggatccccc ccttcgacaa tgatctagat cacccaggag aacgtcagca
     1321 gatctctagc accagggaac ggaaggcagc acgcatcctg gggctgattc tgggtgcatt
     1381 cattttatcc tggctgccat ttttcatcaa agagttgatt gtgggtctga gcatctacac
     1441 cgtgtcctcg gaagtggccg actttctgac gtggctcggt tatgtgaatt ctctgatcaa
     1501 ccctctgctc tatacgagtt ttaatgaaga ctttaagctg gcttttaaaa agctcattag
     1561 atgccgagag catacttaga ctgtaaaaag ctaaaaggca cgactttttc cagagcctca
     1621 tgagtggatg ggggtaaggg gtgcaactta ttaattcttg aacatacttg gttcaggaga
     1681 gtttgtaagt atgtgtggtc ttgtttcctt gtttgtttgt ttgttttgtt ctgttttgtt
     1741 tgaggattgt tatttggcgt gctgttttct acctctggtc ttatctgtga tacataattt
     1801 caaataaaca ttatcataca aaaaca
//
LOCUS       NM_000867               2170 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens 5-hydroxytryptamine receptor 2B (HTR2B), transcript
            variant 1, mRNA.
ACCESSION   NM_000867
VERSION     NM_000867.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2170)
  AUTHORS   Penno JRCZ, Santos-Bezerra DP, Cavaleiro AM, da Silva Sousa AM,
            Zaccara TA, da Costa RA, Francisco RPV and Correa-Giannella ML.
  TITLE     Variant rs17619600 in the gene encoding serotonin receptor 2B
            (HTR2B) increases the risk of gestational diabetes mellitus: a
            case-control study
  JOURNAL   Eur J Med Res 28 (1), 243 (2023)
   PUBMED   37480094
  REMARK    GeneRIF: Variant rs17619600 in the gene encoding serotonin receptor
            2B (HTR2B) increases the risk of gestational diabetes mellitus: a
            case-control study. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2170)
  AUTHORS   Wenglen C, Demirel I, Eremo AG, Grenegard M and Paramel GV.
  TITLE     Targeting serotonin receptor 2B inhibits TGFbeta induced
            differentiation of human vascular smooth muscle cells
  JOURNAL   Eur J Pharmacol 944, 175570 (2023)
   PUBMED   36781042
  REMARK    GeneRIF: Targeting serotonin receptor 2B inhibits TGFbeta induced
            differentiation of human vascular smooth muscle cells.
REFERENCE   3  (bases 1 to 2170)
  AUTHORS   Lofdahl A, Nybom A, Wigen J, Dellgren G, Brunnstrom H, Wenglen C and
            Westergren-Thorsson G.
  TITLE     Pulmonary 5-HT2B receptor expression in fibrotic interstitial lung
            diseases
  JOURNAL   Acta Histochem 125 (3), 152024 (2023)
   PUBMED   36958084
  REMARK    GeneRIF: Pulmonary 5-HT2B receptor expression in fibrotic
            interstitial lung diseases.
REFERENCE   4  (bases 1 to 2170)
  AUTHORS   De Logu F, Maglie R, Titiz M, Poli G, Landini L, Marini M, Souza
            Monteiro de Araujo D, De Siena G, Montini M, Cabrini DA, Otuki MF,
            Pawloski PL, Antiga E, Tuccinardi T, Calixto JB, Geppetti P, Nassini
            R and Andre E.
  TITLE     miRNA-203b-3p Induces Acute and Chronic Pruritus through 5-HTR2B and
            TRPV4
  JOURNAL   J Invest Dermatol 143 (1), 142-153 (2023)
   PUBMED   36049541
  REMARK    GeneRIF: miRNA-203b-3p Induces Acute and Chronic Pruritus through
            5-HTR2B and TRPV4.
REFERENCE   5  (bases 1 to 2170)
  AUTHORS   Benhassine M, Le-Bel G and Guerin SL.
  TITLE     Contribution of the STAT Family of Transcription Factors to the
            Expression of the Serotonin 2B (HTR2B) Receptor in Human Uveal
            Melanoma
  JOURNAL   Int J Mol Sci 23 (3), 1564 (2022)
   PUBMED   35163491
  REMARK    GeneRIF: Contribution of the STAT Family of Transcription Factors to
            the Expression of the Serotonin 2B (HTR2B) Receptor in Human Uveal
            Melanoma. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2170)
  AUTHORS   Bonhaus DW, Bach C, DeSouza A, Salazar FH, Matsuoka BD, Zuppan P,
            Chan HW and Eglen RM.
  TITLE     The pharmacology and distribution of human 5-hydroxytryptamine2B
            (5-HT2B) receptor gene products: comparison with 5-HT2A and 5-HT2C
            receptors
  JOURNAL   Br J Pharmacol 115 (4), 622-628 (1995)
   PUBMED   7582481
REFERENCE   7  (bases 1 to 2170)
  AUTHORS   Borman RA and Burleigh DE.
  TITLE     Functional evidence for a 5-HT2B receptor mediating contraction of
            longitudinal muscle in human small intestine
  JOURNAL   Br J Pharmacol 114 (8), 1525-1527 (1995)
   PUBMED   7599919
REFERENCE   8  (bases 1 to 2170)
  AUTHORS   Choi DS, Birraux G, Launay JM and Maroteaux L.
  TITLE     The human serotonin 5-HT2B receptor: pharmacological link between
            5-HT2 and 5-HT1D receptors
  JOURNAL   FEBS Lett 352 (3), 393-399 (1994)
   PUBMED   7926008
REFERENCE   9  (bases 1 to 2170)
  AUTHORS   Kursar JD, Nelson DL, Wainscott DB and Baez M.
  TITLE     Molecular cloning, functional expression, and mRNA tissue
            distribution of the human 5-hydroxytryptamine2B receptor
  JOURNAL   Mol Pharmacol 46 (2), 227-234 (1994)
   PUBMED   8078486
REFERENCE   10  (bases 1 to 2170)
  AUTHORS   Schmuck K, Ullmer C, Engels P and Lubbert H.
  TITLE     Cloning and functional characterization of the human 5-HT2B
            serotonin receptor
  JOURNAL   FEBS Lett 342 (1), 85-90 (1994)
   PUBMED   8143856
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK313741.1, BC063123.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000258400.4/ ENSP00000258400.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC063123.1, X77307.1 and
            AC009407.8.
            On Nov 22, 2018 this sequence version replaced NM_000867.4.
            Summary: This gene encodes one of the several different receptors
            for 5-hydroxytryptamine (serotonin) that belongs to the G-protein
            coupled receptor 1 family. Serotonin is a biogenic hormone that
            functions as a neurotransmitter, a hormone, and a mitogen.
            Serotonin receptors mediate many of the central and peripheral
            physiologic functions of serotonin, including regulation of
            cardiovascular functions and impulsive behavior. Population and
            family-based analyses of a minor allele (glutamine-to-stop
            substitution, designated Q20*) which blocks expression of this
            protein, and knockout studies in mice, suggest a role for this gene
            in impulsivity. However, other factors, such as elevated
            testosterone levels, may also be involved. Alternatively spliced
            transcript variants have been found for this gene. [provided by
            RefSeq, Mar 2016].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2170
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..2170
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="5-hydroxytryptamine receptor 2B"
                     /db_xref="GeneID:3357"
                     /db_xref="HGNC:HGNC:5294"
                     /db_xref="MIM:601122"
     misc_feature    417..419
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="upstream in-frame stop codon"
     CDS             438..1883
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="isoform 1 is encoded by transcript variant 1; 5-HT
                     2B receptor; 5-hydroxytryptamine 2B receptor; serotonin
                     receptor 2B; 5-hydroxytryptamine (serotonin) receptor 2B, G
                     protein-coupled"
                     /codon_start=1
                     /product="5-hydroxytryptamine receptor 2B isoform 1"
                     /protein_id="NP_000858.3"
                     /db_xref="CCDS:CCDS2483.1"
                     /db_xref="GeneID:3357"
                     /db_xref="HGNC:HGNC:5294"
                     /db_xref="MIM:601122"
                     /translation="MALSYRVSELQSTIPEHILQSTFVHVISSNWSGLQTESIPEEMKQ
                     IVEEQGNKLHWAALLILMVIIPTIGGNTLVILAVSLEKKLQYATNYFLMSLAVADLLVG
                     LFVMPIALLTIMFEAMWPLPLVLCPAWLFLDVLFSTASIMHLCAISVDRYIAIKKPIQA
                     NQYNSRATAFIKITVVWLISIGIAIPVPIKGIETDVDNPNNITCVLTKERFGDFMLFGS
                     LAAFFTPLAIMIVTYFLTIHALQKKAYLVKNKPPQRLTWLTVSTVFQRDETPCSSPEKV
                     AMLDGSRKDKALPNSGDETLMRRTSTIGKKSVQTISNEQRASKVLGIVFFLFLLMWCPF
                     FITNITLVLCDSCNQTTLQMLLEIFVWIGYVSSGVNPLVYTLFNKTFRDAFGRYITCNY
                     RATKSVKTLRKRSSKIYFRNPMAENSKFFKKHGIRNGINPAMYQSPMRLRSSTIQSSSI
                     ILLDTLLLTENEGDKTEEQVSYV"
     misc_feature    525..527
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P41595.1); glycosylation site"
     misc_feature    606..674
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="propagated from UniProtKB/Swiss-Prot (P41595.1);
                     transmembrane region"
     misc_feature    708..776
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="propagated from UniProtKB/Swiss-Prot (P41595.1);
                     transmembrane region"
     misc_feature    825..890
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="propagated from UniProtKB/Swiss-Prot (P41595.1);
                     transmembrane region"
     misc_feature    891..899
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="propagated from UniProtKB/Swiss-Prot (P41595.1);
                     Region: DRY motif, important for ligand-induced
                     conformation changes.
                     /evidence=ECO:0000305|PubMed:23519215,
                     ECO:0000305|PubMed:28129538"
     misc_feature    951..1013
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="propagated from UniProtKB/Swiss-Prot (P41595.1);
                     transmembrane region"
     misc_feature    1062..1064
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="Hydrophobic barrier that decreases the speed of
                     ligand binding and dissociation.
                     /evidence=ECO:0000269|PubMed:28129538; propagated from
                     UniProtKB/Swiss-Prot (P41595.1); other site"
     misc_feature    1071..1082
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="propagated from UniProtKB/Swiss-Prot (P41595.1);
                     Region: [DE]RFG motif, may stabilize a conformation that
                     preferentially activates signaling via beta-arrestin family
                     members. /evidence=ECO:0000305|PubMed:23519215,
                     ECO:0000305|PubMed:28129538"
     misc_feature    1086..1154
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="propagated from UniProtKB/Swiss-Prot (P41595.1);
                     transmembrane region"
     misc_feature    1410..1472
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="propagated from UniProtKB/Swiss-Prot (P41595.1);
                     transmembrane region"
     misc_feature    1518..1583
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="propagated from UniProtKB/Swiss-Prot (P41595.1);
                     transmembrane region"
     misc_feature    1563..1577
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="propagated from UniProtKB/Swiss-Prot (P41595.1);
                     Region: NPxxY motif, important for ligand-induced
                     conformation changes and signaling.
                     /evidence=ECO:0000305|PubMed:23519215,
                     ECO:0000305|PubMed:28129538"
     misc_feature    1872..1880
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="propagated from UniProtKB/Swiss-Prot (P41595.1);
                     Region: PDZ-binding. /evidence=ECO:0000269|PubMed:11150294"
     regulatory      2146..2151
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="hexamer: AATAAA"
     polyA_site      2170
                     /gene="HTR2B"
                     /gene_synonym="5-HT(2B); 5-HT-2B; 5-HT2B"
                     /note="major polyA site"
ORIGIN
        1 agtcacagca gcaagcaagt ctagtgaaca gataagatga catgctcagc aaaataacaa
       61 cgaaaccaga gggggaactc tctggcatgc aagttcaaac acgactctac aactacggca
      121 gaaaaagaga gagagagaaa ctaaaaatat atatatatcc tatttttttc acagctatca
      181 gtttctttca ctgagctttc ctaaatttaa gcctctagaa aataataaat acttggatat
      241 cttacctaca aacatggaca gatgtgtgta tgcgctcatt ttagagaact tgaatttttt
      301 tttttaaagg aaggtgtcaa ctttggcttt tgagtgtttg gcatggttac aatgccttaa
      361 aaaaacagat gagcagctta gctactaacc atgctgacca ctgttcggaa cgggattgaa
      421 tcacagaaaa acagcaaatg gctctctctt acagagtgtc tgaacttcaa agcacaattc
      481 ctgagcacat tttgcagagc acctttgttc acgttatctc ttctaactgg tctggattac
      541 agacagaatc aataccagag gaaatgaaac agattgttga ggaacaggga aataaactgc
      601 actgggcagc tcttctgata ctcatggtga taatacccac aattggtgga aatacccttg
      661 ttattctggc tgtttcactg gagaagaagc tgcagtatgc tactaattac tttctaatgt
      721 ccttggcggt ggctgatttg ctggttggat tgtttgtgat gccaattgcc ctcttgacaa
      781 taatgtttga ggctatgtgg cccctcccac ttgttctatg tcctgcctgg ttatttcttg
      841 acgttctctt ttcaaccgca tccatcatgc atctctgtgc catttcagtg gatcgttaca
      901 tagccatcaa aaagccaatc caggccaatc aatataactc acgggctaca gcattcatca
      961 agattacagt ggtgtggtta atttcaatag gcattgccat tccagtccct attaaaggga
     1021 tagagactga tgtggacaac ccaaacaata tcacttgtgt gctgacaaag gaacgttttg
     1081 gcgatttcat gctctttggc tcactggctg ccttcttcac acctcttgca attatgattg
     1141 tcacctactt tctcactatc catgctttac agaagaaggc ttacttagtc aaaaacaagc
     1201 cacctcaacg cctaacatgg ttgactgtgt ctacagtttt ccaaagggat gaaacacctt
     1261 gctcgtcacc ggaaaaggtg gcaatgctgg atggttctcg aaaggacaag gctctgccca
     1321 actcaggtga tgaaacactt atgcgaagaa catccacaat tgggaaaaag tcagtgcaga
     1381 ccatttccaa cgaacagaga gcctcaaagg tcctagggat tgtgtttttc ctctttttgc
     1441 ttatgtggtg tcccttcttt attacaaata taactttagt tttatgtgat tcctgtaacc
     1501 aaactactct ccaaatgctc ctggagatat ttgtgtggat aggctatgtt tcctcaggag
     1561 tgaatccttt ggtctacacc ctcttcaata agacatttcg ggatgcattt ggccgatata
     1621 tcacctgcaa ttaccgggcc acaaagtcag taaaaactct cagaaaacgc tccagtaaga
     1681 tctacttccg gaatccaatg gcagagaact ctaagttttt caagaaacat ggaattcgaa
     1741 atgggattaa ccctgccatg taccagagtc caatgaggct ccgaagttca accattcagt
     1801 cttcatcaat cattctacta gatacgcttc tcctcactga aaatgaaggt gacaaaactg
     1861 aagagcaagt tagttatgta tagcagaact ggcagttgtc atcaaacata atgatgagta
     1921 agatgatgaa tgagatgtaa atgtgccaag aatatattat ataaagaatt ttatgtcata
     1981 tatcaaatca tctctttaac ctaagatgta agtattaaga atatctaatt ttcctaattt
     2041 ggacaagatt attccatgag gaaaataatt ttatatagct acaaatgaaa acaatccagc
     2101 actctggtta aattttaagg tattcgaatg aaataaagtc aaatcaataa atttcaggct
     2161 ttaaaaagaa
//
LOCUS       NM_000868               4743 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens 5-hydroxytryptamine receptor 2C (HTR2C), transcript
            variant 2, mRNA.
ACCESSION   NM_000868
VERSION     NM_000868.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4743)
  AUTHORS   Konjevod M, Sreter KB, Popovic-Grle S, Lampalo M, Tudor L, Jukic I,
            Nedic Erjavec G, Bingulac-Popovic J, Safic Stanic H, Nikolac
            Perkovic M, Markeljevic J, Samarzija M, Pivac N and Svob Strac D.
  TITLE     Platelet Serotonin (5-HT) Concentration, Platelet Monoamine Oxidase
            B (MAO-B) Activity and HTR2A, HTR2C, and MAOB Gene Polymorphisms in
            Asthma
  JOURNAL   Biomolecules 13 (5), 800 (2023)
   PUBMED   37238670
  REMARK    GeneRIF: Platelet Serotonin (5-HT) Concentration, Platelet Monoamine
            Oxidase B (MAO-B) Activity and HTR2A, HTR2C, and MAOB Gene
            Polymorphisms in Asthma. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4743)
  AUTHORS   Starling S.
  TITLE     Variation in serotonin 2C receptor linked with obesity and behaviour
  JOURNAL   Nat Rev Endocrinol 19 (3), 127 (2023)
   PUBMED   36658216
  REMARK    GeneRIF: Variation in serotonin 2C receptor linked with obesity and
            behaviour.
REFERENCE   3  (bases 1 to 4743)
  AUTHORS   Jahnsen JA and Uhlen S.
  TITLE     The N-terminal region of the human 5-HTC receptor has as a cleavable
            signal peptide
  JOURNAL   Eur J Pharmacol 684 (1-3), 44-50 (2012)
   PUBMED   22497996
  REMARK    GeneRIF: predicted signal peptide in the N-terminal tail of the
            5-HT(2C) receptor acts as a cleavable signal peptide
REFERENCE   4  (bases 1 to 4743)
  AUTHORS   Niswender CM, Sanders-Bush E and Emeson RB.
  TITLE     Identification and characterization of RNA editing events within the
            5-HT2C receptor
  JOURNAL   Ann N Y Acad Sci 861, 38-48 (1998)
   PUBMED   9928237
  REMARK    Review article
REFERENCE   5  (bases 1 to 4743)
  AUTHORS   Burns CM, Chu H, Rueter SM, Hutchinson LK, Canton H, Sanders-Bush E
            and Emeson RB.
  TITLE     Regulation of serotonin-2C receptor G-protein coupling by RNA
            editing
  JOURNAL   Nature 387 (6630), 303-308 (1997)
   PUBMED   9153397
REFERENCE   6  (bases 1 to 4743)
  AUTHORS   Canton H, Emeson RB, Barker EL, Backstrom JR, Lu JT, Chang MS and
            Sanders-Bush E.
  TITLE     Identification, molecular cloning, and distribution of a short
            variant of the 5-hydroxytryptamine2C receptor produced by
            alternative splicing
  JOURNAL   Mol Pharmacol 50 (4), 799-807 (1996)
   PUBMED   8863824
REFERENCE   7  (bases 1 to 4743)
  AUTHORS   Xie E, Zhu L, Zhao L and Chang LS.
  TITLE     The human serotonin 5-HT2C receptor: complete cDNA, genomic
            structure, and alternatively spliced variant
  JOURNAL   Genomics 35 (3), 551-561 (1996)
   PUBMED   8812491
REFERENCE   8  (bases 1 to 4743)
  AUTHORS   Lappalainen J, Zhang L, Dean M, Oz M, Ozaki N, Yu DH, Virkkunen M,
            Weight F, Linnoila M and Goldman D.
  TITLE     Identification, expression, and pharmacology of a Cys23-Ser23
            substitution in the human 5-HT2c receptor gene (HTR2C)
  JOURNAL   Genomics 27 (2), 274-279 (1995)
   PUBMED   7557992
REFERENCE   9  (bases 1 to 4743)
  AUTHORS   Milatovich A, Hsieh CL, Bonaminio G, Tecott L, Julius D and Francke
            U.
  TITLE     Serotonin receptor 1c gene assigned to X chromosome in human (band
            q24) and mouse (bands D-F4)
  JOURNAL   Hum Mol Genet 1 (9), 681-684 (1992)
   PUBMED   1302605
REFERENCE   10  (bases 1 to 4743)
  AUTHORS   Saltzman AG, Morse B, Whitman MM, Ivanshchenko Y, Jaye M and Felder
            S.
  TITLE     Cloning of the human serotonin 5-HT2 and 5-HT1C receptor subtypes
  JOURNAL   Biochem Biophys Res Commun 181 (3), 1469-1478 (1991)
   PUBMED   1722404
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U49516.1, SRR18074969.2853825.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000276198.6/ ENSP00000276198.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            undergoes RNA editing       :: PMID: 9153397, 9928237
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC233299.3, AL590097.17 and
            AL355812.23.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 18, 2020 this sequence version replaced NM_000868.3.
            Summary: This gene encodes a seven-transmembrane G-protein-coupled
            receptor. The encoded protein responds to signaling through the
            neurotransmitter serotonin. The mRNA of this gene is subject to
            multiple RNA editing events, where adenosine residues encoded by
            the genome are converted to inosines. RNA editing is predicted to
            alter the structure of the second intracellular loop, thereby
            generating alternate protein forms with decreased ability to
            interact with G proteins. Abnormalities in RNA editing of this gene
            have been detected in victims of suicide that suffer from
            depression. In addition, naturally-occuring variation in the
            promoter and 5' non-coding and coding regions of this gene may show
            statistically-significant association with mental illness and
            behavioral disorders. Alternative splicing results in multiple
            different transcript variants. [provided by RefSeq, Jan 2015].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same isoform (a).
            This variant may undergo RNA editing.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4743
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq23"
     gene            1..4743
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="5-hydroxytryptamine receptor 2C"
                     /db_xref="GeneID:3358"
                     /db_xref="HGNC:HGNC:5295"
                     /db_xref="MIM:312861"
     misc_feature    18
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="major transcription start site determined in
                     PMID:8812491"
     misc_feature    670..672
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="upstream in-frame stop codon"
     CDS             721..2097
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="isoform a precursor is encoded by transcript variant
                     2; serotonin 5-HT-2C receptor; 5-hydroxytryptamine receptor
                     1C; serotonin 5-HT-1C receptor; 5-hydroxytryptamine
                     (serotonin) receptor 2C, G protein-coupled"
                     /codon_start=1
                     /product="5-hydroxytryptamine receptor 2C isoform a
                     precursor"
                     /protein_id="NP_000859.2"
                     /db_xref="CCDS:CCDS14564.1"
                     /db_xref="GeneID:3358"
                     /db_xref="HGNC:HGNC:5295"
                     /db_xref="MIM:312861"
                     /translation="MVNLRNAVHSFLVHLIGLLVWQSDISVSPVAAIVTDIFNTSDGGR
                     FKFPDGVQNWPALSIVIIIIMTIGGNILVIMAVSMEKKLHNATNYFLMSLAIADMLVGL
                     LVMPLSLLAILYDYVWPLPRYLCPVWISLDVLFSTASIMHLCAISLDRYVAIRNPIEHS
                     RFNSRTKAIMKIAIVWAISIGVSVPIPVIGLRDEEKVFVNNTTCVLNDPNFVLIGSFVA
                     FFIPLTIMVITYCLTIYVLRRQALMLLHGHTEEPPGLSLDFLKCCKRNTAEEENSANPN
                     QDQNARRRKKKERRPRGTMQAINNERKASKVLGIVFFVFLIMWCPFFITNILSVLCEKS
                     CNQKLMEKLLNVFVWIGYVCSGINPLVYTLFNKIYRRAFSNYLRCNYKVEKKPPVRQIP
                     RVAATALSGRELNVNIYRHTNEPVIEKASDNEPGIEMQVENLELPVNPSSVVSERISSV
                     "
     sig_peptide     721..816
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="/evidence=ECO:0000269|PubMed:22497996; propagated
                     from UniProtKB/Swiss-Prot (P28335.2)"
     mat_peptide     817..2094
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /product="5-hydroxytryptamine receptor 2C.
                     /id=PRO_0000068958"
                     /note="propagated from UniProtKB/Swiss-Prot (P28335.2)"
     misc_feature    835..837
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P28335.2); glycosylation site"
     misc_feature    877..954
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="propagated from UniProtKB/Swiss-Prot (P28335.2);
                     transmembrane region"
     misc_feature    988..1050
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="propagated from UniProtKB/Swiss-Prot (P28335.2);
                     transmembrane region"
     misc_feature    1102..1170
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="propagated from UniProtKB/Swiss-Prot (P28335.2);
                     transmembrane region"
     misc_feature    1171..1179
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="propagated from UniProtKB/Swiss-Prot (P28335.2);
                     Region: DRY motif, important for ligand-induced
                     conformation changes. /evidence=ECO:0000250"
     misc_feature    1231..1299
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="propagated from UniProtKB/Swiss-Prot (P28335.2);
                     transmembrane region"
     misc_feature    1330..1332
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (P28335.2); glycosylation site"
     misc_feature    1360..1425
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="propagated from UniProtKB/Swiss-Prot (P28335.2);
                     transmembrane region"
     misc_feature    1540..1623
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="propagated from UniProtKB/Swiss-Prot (P28335.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1654..1719
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="propagated from UniProtKB/Swiss-Prot (P28335.2);
                     transmembrane region"
     misc_feature    1765..1833
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="propagated from UniProtKB/Swiss-Prot (P28335.2);
                     transmembrane region"
     misc_feature    1810..1824
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="propagated from UniProtKB/Swiss-Prot (P28335.2);
                     Region: NPxxY motif, important for ligand-induced
                     conformation changes and signaling. /evidence=ECO:0000250"
     misc_feature    2086..2094
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="propagated from UniProtKB/Swiss-Prot (P28335.2);
                     Region: PDZ-binding"
     misc_feature    1186
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="residue Ile(156) is modified by RNA editing to Val;
                     Region: RNA editing site A"
     misc_feature    1188
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="residue Ile(156) is modified by RNA editing to Val;
                     Region: RNA editing site B"
     misc_feature    1193
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="residue Asn(158) is modified by RNA editing to Ser;
                     Region: RNA editing site C"
     misc_feature    1198
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="residue Ile(160) is modified by RNA editing to Val;
                     Region: RNA editing site D"
     regulatory      4724..4729
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="hexamer: ATTAAA"
     polyA_site      4743
                     /gene="HTR2C"
                     /gene_synonym="5-HT1C; 5-HT2C; 5-HTR2C; 5HTR2C; HTR1C"
                     /note="major polyA site"
ORIGIN
        1 gaggtaggcg ctctggtgct tgccgaggac gcttccttcc tcagatgcac cgatcttccc
       61 gatactgcct ttggagcggc tagattgcta gccttggctg ctccattggc ctgccttgcc
      121 ccttacctgc cgattgcata tgaactcttc ttctgtctgt acatcgttgt cgtcggagtc
      181 gtcgcgatcg tcgtggcgct cgtgtgatgg ccttcgtccg tttagagtag tgtagttagt
      241 taggggccaa cgaagaagaa agaagacgcg attagtgcag agatgctgga ggtggtcagt
      301 tactaagcta gagtaagata gcggagcgaa aagagccaaa cctagccggg gggcgcacgg
      361 tcacccaaag gaggtcgact cgccggcgct tcctatcgcg ccgagctccc tccattcctc
      421 tccctccgcc gaggcgcgag gttgcggcgc gcagcgcagc gcagctcagc gcaccgactg
      481 ccgcgggctc cgctgggcga ttgcagccga gtccgtttct cgtctagctg ccgccgcggc
      541 gaccgctgcc tggtcttcct cccggacgct agtgggttat cagctaacac ccgcgagcat
      601 ctataacata ggccaactga cgccatcctt caaaaacaac taaaggatga tatgatgaac
      661 ctagcctgtt aatttcgtct tctcaatttt aaactttggt tgcttaagac tgaagcaatc
      721 atggtgaacc tgaggaatgc ggtgcattca ttccttgtgc acctaattgg cctattggtt
      781 tggcaatctg atatttctgt gagcccagta gcagctatag taactgacat tttcaatacc
      841 tccgatggtg gacgcttcaa attcccagac ggggtacaaa actggccagc actttcaatc
      901 gtcatcataa taatcatgac aataggtggc aacatccttg tgatcatggc agtaagcatg
      961 gaaaagaaac tgcacaatgc caccaattac ttcttaatgt ccctagccat tgctgatatg
     1021 ctagtgggac tacttgtcat gcccctgtct ctcctggcaa tcctttatga ttatgtctgg
     1081 ccactaccta gatatttgtg ccccgtctgg atttctttag atgttttatt ttcaacagcg
     1141 tccatcatgc acctctgcgc tatatcgctg gatcggtatg tagcaatacg taatcctatt
     1201 gagcatagcc gtttcaattc gcggactaag gccatcatga agattgctat tgtttgggca
     1261 atttctatag gtgtatcagt tcctatccct gtgattggac tgagggacga agaaaaggtg
     1321 ttcgtgaaca acacgacgtg cgtgctcaac gacccaaatt tcgttcttat tgggtccttc
     1381 gtagctttct tcataccgct gacgattatg gtgattacgt attgcctgac catctacgtt
     1441 ctgcgccgac aagctttgat gttactgcac ggccacaccg aggaaccgcc tggactaagt
     1501 ctggatttcc tgaagtgctg caagaggaat acggccgagg aagagaactc tgcaaaccct
     1561 aaccaagacc agaacgcacg ccgaagaaag aagaaggaga gacgtcctag gggcaccatg
     1621 caggctatca acaatgaaag aaaagcttcg aaagtccttg ggattgtttt ctttgtgttt
     1681 ctgatcatgt ggtgcccatt tttcattacc aatattctgt ctgttctttg tgagaagtcc
     1741 tgtaaccaaa agctcatgga aaagcttctg aatgtgtttg tttggattgg ctatgtttgt
     1801 tcaggaatca atcctctggt gtatactctg ttcaacaaaa tttaccgaag ggcattctcc
     1861 aactatttgc gttgcaatta taaggtagag aaaaagcctc ctgtcaggca gattccaaga
     1921 gttgccgcca ctgctttgtc tgggagggag cttaatgtta acatttatcg gcataccaat
     1981 gaaccggtga tcgagaaagc cagtgacaat gagcccggta tagagatgca agttgagaat
     2041 ttagagttac cagtaaatcc ctccagtgtg gttagcgaaa ggattagcag tgtgtgagaa
     2101 agaacagcac agtcttttcc tacggtacaa gctacatatg taggaaaatt ttcttcttta
     2161 atttttctgt tggtcttaac taatgtaaat attgctgtct gaaaaagtgt ttttacatat
     2221 agctttgcaa ccttgtactt tacaatcatg cctacattag tgagatttag ggttctatat
     2281 ttactgttta taataggtgg agactaactt attttgattg tttgatgaat aaaatgttta
     2341 tttttgctct ccctcccttc tttccttcct tttttccttt cttccttcct ttctctcttt
     2401 cttttgtgca tatggcaacg ttcatgttca tctcaggtgg catttgcagg tgaccagaat
     2461 gaggcacatg acagtggtta tatttcaacc acacctaaat taacaaattc agtggacatt
     2521 tgttctgggt taacagtaaa tatacacttt acattcttgc tctgctcatc tacacatata
     2581 aacacagtaa gataggttct gctttctgat acatctgtca gtgagtcaga ggcagaacct
     2641 agtcttgttg ttcatatagg ggcaaaaatt tgacattgtc agaatgttgt gttggtattt
     2701 actgcaatgt ctgtccctaa acatagtggt attttaacat agcagctggt taaccgggac
     2761 tacagaagtg gaaggataat gagatgtaat acaccaaata gcttttcact tcttaaggac
     2821 agtgttcaaa ttctgattat tacaacaagc aaactgaaat tagtgttttc attctggtcc
     2881 ttagtaaatt cctaattcta tgattaaact gggaaatgag atcccagagt tatttcccaa
     2941 cccaggattc aacatcaatt gggttttgat ctcagcatcc tggaaatttg tgtgcttcac
     3001 acaaagtgaa attagtattt tgagccttat taaaatattt tcttaattat ggtacctctg
     3061 tctataggac ttaatttagc agtccatttt tgagtaaaac ttgtattgga agtatagatg
     3121 gtagaaactt tggaagtttt acttgattaa ggactacaga attgggccct tagaatgtga
     3181 aaaaaaaaag taattaaaaa gacactttta ccgaactcgg gattacagaa acacggagtt
     3241 tccatttgga ttttaaacaa aatttatgtc attttcagat ccttccaaac tctctagtgc
     3301 aggaaaaggc tgcagctaat ttgtgaaagt ggcaagctct tcattgcact gcagttattt
     3361 accagaagtt taaatctttg ttaaaatata gtgttgtgtt acaataagtg ttggccatca
     3421 tttcattcgt gggcctgctg ctctctaaga attcagtagc attttaatag tttctaaacc
     3481 atgaaaagtt ttcaagcatt gctaaagtca ggccattcag tctatgctgt gtgcagagta
     3541 tacaagtgtt tctagtaaca gtatttccat acgtgcccat ttcacacaac tgtggataaa
     3601 ttttggaaga attcatgatg ctagttctta cgcttgacag ttacttacac acctgagaat
     3661 gtgcctctca gtatcttaaa attggttaat gaaaaatctg aatttctaaa acccttggtc
     3721 tgtgttctca acacacagta tagataaatc caatagtctg ccacaagggc agtggaagag
     3781 ctgctgtatt tgaggaaact catacagtct ctatttgatt tgcaacactg ccaaacatca
     3841 gtcaattgct tgagcatgcc caaatataac atgaaagtca agtctacctg ccttgcctgt
     3901 taggtctgtt gaagtgcatg ttaaaataat tatatgaagc agaatgagat gatttaattc
     3961 ttaccgaaat gaaaatggct gaagaaacac agcatgcatt tagcatgagt tctgcacata
     4021 cagatggtgt cctgcatgta tgccatgtat gttgcatgaa tccatcgatt tgtattaatg
     4081 tagggcagaa tagctgatag aagaaggact gaagaaaatc cttcagcaat ccttaaaaag
     4141 accatgcatt cagatctgaa gtagtgtgag tgttagaaaa aactggaaac atctgatttc
     4201 tgaactatca gggcaagctc atagcacatg ttttacaaag aaacaaaata taaatcacag
     4261 atttccaaaa gtactagcaa taagttgaat gataatagct cacagcacat ttgttaatga
     4321 ttcttgtgtc atcaagtagt agtacttaat agtacccaac ctggtaatta tcctcaagtt
     4381 gtgtgctatt cgtaagttct gtgcagtttg gtatgaaaca aatatactca tttggatata
     4441 aatcttaccc ttcaatgtta aatctacaaa cttttataaa tgttttaaag aagtccatgt
     4501 gataattgta aaggtgatga atttaccatc aaacaaatca ttttgatgta ttattatata
     4561 tgtatatctg tgtaagacac gtgcaacaga ctgccttata ttattttctg taattcttct
     4621 cctttgtcaa atggtatttt ttgtgaatgg ttgcaaagtg ttgtcttatt cctaattcct
     4681 gtatgttatc cactacaggt tttatgagac ttcctattaa tttattaaat ttattaaatg
     4741 ttg
//
LOCUS       NM_000869               2205 bp    mRNA    linear   PRI 19-FEB-2023
DEFINITION  Homo sapiens 5-hydroxytryptamine receptor 3A (HTR3A), transcript
            variant 2, mRNA.
ACCESSION   NM_000869
VERSION     NM_000869.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2205)
  AUTHORS   Nikolic J, Vukojevic K, Soljic V, Miskovic J, Orlovic Vlaho M,
            Saraga-Babic M and Filipovic N.
  TITLE     Expression Patterns of Serotonin Receptors 5-HT1A, 5-HT2A, and
            5-HT3A during Human Fetal Lung Development
  JOURNAL   Int J Mol Sci 24 (3), 2965 (2023)
   PUBMED   36769290
  REMARK    GeneRIF: Expression Patterns of Serotonin Receptors 5-HT1A, 5-HT2A,
            and 5-HT3A during Human Fetal Lung Development. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2205)
  AUTHORS   Berens S, Dong Y, Fritz N, Walstab J, D'Amato M, Zheng T, Wahl V,
            Boekstegers F, Bermejo JL, Martinez C, Schmitteckert S, Clevers E,
            Engel F, Gauss A, Herzog W, Spiller R, Goebel-Stengel M, Monnikes H,
            Andresen V, Thomas F, Keller J, Pehl C, Stein-Thoringer C, Clarke G,
            Dinan TG, Quigley EM, Sayuk G, Simren M, Tesarz J, Rappold G, van
            Oudenhove L, Schaefert R and Niesler B.
  TITLE     Serotonin type 3 receptor subunit gene polymorphisms associated with
            psychosomatic symptoms in irritable bowel syndrome: A multicenter
            retrospective study
  JOURNAL   World J Gastroenterol 28 (21), 2334-2349 (2022)
   PUBMED   35800179
  REMARK    GeneRIF: Serotonin type 3 receptor subunit gene polymorphisms
            associated with psychosomatic symptoms in irritable bowel syndrome:
            A multicenter retrospective study.
REFERENCE   3  (bases 1 to 2205)
  AUTHORS   Olatunji BO, Cox RC and Blackford JU.
  TITLE     Fear reacquisition and symptoms of combat-related PTSD: Specificity
            and preliminary examination of the influence of the 5-HT3A receptor
            gene
  JOURNAL   Behav Res Ther 153, 104085 (2022)
   PUBMED   35413654
  REMARK    GeneRIF: Fear reacquisition and symptoms of combat-related PTSD:
            Specificity and preliminary examination of the influence of the
            5-HT3A receptor gene.
REFERENCE   4  (bases 1 to 2205)
  AUTHORS   Ritter KE, Buehler DP, Asher SB, Deal KK, Zhao S, Guo Y and
            Southard-Smith EM.
  TITLE     5-HT3 Signaling Alters Development of Sacral Neural Crest
            Derivatives That Innervate the Lower Urinary Tract
  JOURNAL   Int J Mol Sci 22 (13), 6838 (2021)
   PUBMED   34202161
  REMARK    GeneRIF: 5-HT3 Signaling Alters Development of Sacral Neural Crest
            Derivatives That Innervate the Lower Urinary Tract. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 2205)
  AUTHORS   Basak S, Kumar A, Ramsey S, Gibbs E, Kapoor A, Filizola M and
            Chakrapani S.
  TITLE     High-resolution structures of multiple 5-HT3AR-setron complexes
            reveal a novel mechanism of competitive inhibition
  JOURNAL   Elife 9, e57870 (2020)
   PUBMED   33063666
  REMARK    GeneRIF: High-resolution structures of multiple 5-HT3AR-setron
            complexes reveal a novel mechanism of competitive inhibition.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2205)
  AUTHORS   Niesler B, Flohr T, Nothen MM, Fischer C, Rietschel M, Franzek E,
            Albus M, Propping P and Rappold GA.
  TITLE     Association between the 5' UTR variant C178T of the serotonin
            receptor gene HTR3A and bipolar affective disorder
  JOURNAL   Pharmacogenetics 11 (6), 471-475 (2001)
   PUBMED   11505217
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2205)
  AUTHORS   Belelli D, Balcarek JM, Hope AG, Peters JA, Lambert JJ and Blackburn
            TP.
  TITLE     Cloning and functional expression of a human 5-hydroxytryptamine
            type 3AS receptor subunit
  JOURNAL   Mol Pharmacol 48 (6), 1054-1062 (1995)
   PUBMED   8848005
REFERENCE   8  (bases 1 to 2205)
  AUTHORS   Weiss B, Mertz A, Schrock E, Koenen M and Rappold G.
  TITLE     Assignment of a human homolog of the mouse Htr3 receptor gene to
            chromosome 11q23.1-q23.2
  JOURNAL   Genomics 29 (1), 304-305 (1995)
   PUBMED   8530095
REFERENCE   9  (bases 1 to 2205)
  AUTHORS   Miyake A, Mochizuki S, Takemoto Y and Akuzawa S.
  TITLE     Molecular cloning of human 5-hydroxytryptamine3 receptor:
            heterogeneity in distribution and function among species
  JOURNAL   Mol Pharmacol 48 (3), 407-416 (1995)
   PUBMED   7565620
REFERENCE   10  (bases 1 to 2205)
  AUTHORS   Uetz P, Abdelatty F, Villarroel A, Rappold G, Weiss B and Koenen M.
  TITLE     Organisation of the murine 5-HT3 receptor gene and assignment to
            human chromosome 11
  JOURNAL   FEBS Lett 339 (3), 302-306 (1994)
   PUBMED   8112471
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: D49394.1, BC004453.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA2150385 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000504030.7/ ENSP00000424189.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            regulatory uORF                  :: PMID: 11505217
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK304630.1, AP000908.4 and
            BC002354.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 27, 2018 this sequence version replaced NM_000869.5.
            Summary: The product of this gene belongs to the ligand-gated ion
            channel receptor superfamily. This gene encodes subunit A of the
            type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic
            hormone that functions as a neurotransmitter, a hormone, and a
            mitogen. This receptor causes fast, depolarizing responses in
            neurons after activation. It appears that the heteromeric
            combination of A and B subunits is necessary to provide the full
            functional features of this receptor, since either subunit alone
            results in receptors with very low conductance and response
            amplitude. Alternatively spliced transcript variants encoding
            different isoforms have been identified. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (2) lacks an in-frame segment of
            the coding region, compared to variant 1. It encodes a shorter
            isoform (b), that is missing an internal segment compared to
            isoform a.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2205
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.2"
     gene            1..2205
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /note="5-hydroxytryptamine receptor 3A"
                     /db_xref="GeneID:3359"
                     /db_xref="HGNC:HGNC:5297"
                     /db_xref="MIM:182139"
     regulatory      132..182
                     /regulatory_class="uORF"
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:11505217]"
                     /note="this uORF is predicted to encode a 16 aa peptide
                     (PMID:11505217)"
     misc_feature    180..182
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /note="upstream in-frame stop codon"
     misc_feature    201..203
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MLGKLA"
     CDS             219..1655
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /note="isoform b precursor is encoded by transcript variant
                     2; serotonin-gated ion channel receptor; 5HT3 serotonin
                     receptor; serotonin receptor 3A; 5-hydroxytryptamine
                     receptor 3; 5-hydroxytryptamine (serotonin) receptor 3A,
                     ionotropic"
                     /codon_start=1
                     /product="5-hydroxytryptamine receptor 3A isoform b
                     precursor"
                     /protein_id="NP_000860.3"
                     /db_xref="CCDS:CCDS8365.3"
                     /db_xref="GeneID:3359"
                     /db_xref="HGNC:HGNC:5297"
                     /db_xref="MIM:182139"
                     /translation="MLLWVQQALLALLLPTLLAQGEARRSRNTTRPALLRLSDYLLTNY
                     RKGVRPVRDWRKPTTVSIDVIVYAILNVDEKNQVLTTYIWYRQYWTDEFLQWNPEDFDN
                     ITKLSIPTDSIWVPDILINEFVDVGKSPNIPYVYIRHQGEVQNYKPLQVVTACSLDIYN
                     FPFDVQNCSLTFTSWLHTIQDINISLWRLPEKVKSDRSVFMNQGEWELLGVLPYFREFS
                     MESSNYYAEMKFYVVIRRRPLFYVVSLLLPSIFLMVMDIVGFYLPPNSGERVSFKITLL
                     LGYSVFLIIVSDTLPATAIGTPLIGVYFVVCMALLVISLAETIFIVRLVHKQDLQQPVP
                     AWLRHLVLERIAWLLCLREQSTSQRPPATSQATKTDDCSAMGNHCSHMGGPQDFEKSPR
                     DRCSPPPPPREASLAVCGLLQELSSIRQFLEKRDEIREVARDWLRVGSVLDKLLFHIYL
                     LAVLAYSITLVMLWSIWQYA"
     sig_peptide     219..287
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     288..1652
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /product="5-hydroxytryptamine receptor 3A.
                     /id=PRO_0000000408"
                     /note="propagated from UniProtKB/Swiss-Prot (P46098.1)"
     misc_feature    300..302
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P46098.1); glycosylation site"
     misc_feature    528..530
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P46098.1); glycosylation site"
     misc_feature    726..728
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P46098.1); glycosylation site"
     misc_feature    774..776
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P46098.1); glycosylation site"
     misc_feature    942..1022
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P46098.1);
                     transmembrane region"
     misc_feature    1038..1094
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P46098.1);
                     transmembrane region"
     misc_feature    1125..1181
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P46098.1);
                     transmembrane region"
     misc_feature    1383..1442
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P46098.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1458..1568
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P46098.1);
                     Region: HA-stretch"
     misc_feature    1584..1643
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /note="propagated from UniProtKB/Swiss-Prot (P46098.1);
                     transmembrane region"
     regulatory      2182..2187
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /note="hexamer: AATAAA"
     polyA_site      2205
                     /gene="HTR3A"
                     /gene_synonym="5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3"
                     /note="major polyA site"
ORIGIN
        1 gaaacatgat ccagctgaag gactgattgc aggaaaactt ggcagctccc caaccttggt
       61 ggcccaggga gtgtgaggct gcagcctcag aaggtgtgag cagtggccac gagaggcagg
      121 ctggctggga catgaggttg gcagagggca ggcaagctgg cccttggtgg gcctcgtcct
      181 gagcactcgg aggcactcct atgcttggaa agctcgctat gctgctgtgg gtccagcagg
      241 cgctgctcgc cttgctcctc cccacactcc tggcacaggg agaagccagg aggagccgaa
      301 acaccaccag gcccgctctg ctgaggctgt cggattacct tttgaccaac tacaggaagg
      361 gtgtgcgccc cgtgagggac tggaggaagc caaccaccgt atccattgac gtcattgtct
      421 atgccatcct caacgtggat gagaagaatc aggtgctgac cacctacatc tggtaccggc
      481 agtactggac tgatgagttt ctccagtgga accctgagga ctttgacaac atcaccaagt
      541 tgtccatccc cacggacagc atctgggtcc cggacattct catcaatgag ttcgtggatg
      601 tggggaagtc tccaaatatc ccgtacgtgt atattcggca tcaaggcgaa gttcagaact
      661 acaagcccct tcaggtggtg actgcctgta gcctcgacat ctacaacttc cccttcgatg
      721 tccagaactg ctcgctgacc ttcaccagtt ggctgcacac catccaggac atcaacatct
      781 ctttgtggcg cttgccagaa aaggtgaaat ccgacaggag tgtcttcatg aaccagggag
      841 agtgggagtt gctgggggtg ctgccctact ttcgggagtt cagcatggaa agcagtaact
      901 actatgcaga aatgaagttc tatgtggtca tccgccggcg gcccctcttc tatgtggtca
      961 gcctgctact gcccagcatc ttcctcatgg tcatggacat cgtgggcttc tacctgcccc
     1021 ccaacagtgg cgagagggtc tctttcaaga ttacactcct cctgggctac tcggtcttcc
     1081 tgatcatcgt ttctgacacg ctgccggcca ctgccatcgg cactcctctc attggtgtct
     1141 actttgtggt gtgcatggct ctgctggtga taagtttggc cgagaccatc ttcattgtgc
     1201 ggctggtgca caagcaagac ctgcagcagc ccgtgcctgc ttggctgcgt cacctggttc
     1261 tggagagaat cgcctggcta ctttgcctga gggagcagtc aacttcccag aggcccccag
     1321 ccacctccca agccaccaag actgatgact gctcagccat gggaaaccac tgcagccaca
     1381 tgggaggacc ccaggacttc gagaagagcc cgagggacag atgtagccct cccccaccac
     1441 ctcgggaggc ctcgctggcg gtgtgtgggc tgctgcagga gctgtcctcc atccggcaat
     1501 tcctggaaaa gcgggatgag atccgagagg tggcccgaga ctggctgcgc gtgggctccg
     1561 tgctggacaa gctgctattc cacatttacc tgctagcggt gctggcctac agcatcaccc
     1621 tggttatgct ctggtccatc tggcagtacg cttgagtggg tacagcccag tggaggaggg
     1681 ggtacagtcc tggttaggtg gggacagagg atttctgctt aggcccctca ggacccaggg
     1741 aatgccaggg acattttcaa gacacagaca aagtcccgtg ccctgtttcc aatgccaatt
     1801 catctcagca atcacaagcc aaggtctgaa cccttccacc aaaaactggg tgttcaaggc
     1861 ccttacaccc ttgtcccacc cccagcagct caccatggct ttaaaacatg ctgtcttaga
     1921 tcaggagaaa ctcgggcact ccctaagtcc actctagttg tggacttttc cccattgacc
     1981 ctcacctgaa taagggactt tggaattctg cttctctttc acaactttgc ttttaggttg
     2041 aaggcaaaac caactctcta ctacacaggc ctgataactc tgtacgaggc ttctctaacc
     2101 cctagtgtct tttttttctt cacctcactt gtggcagctt ccctgaacac tcatccccca
     2161 tcagatgatg ggagtgggaa gaataaaatg cagtgaaacc ctaaa
//
LOCUS       NM_000870               3336 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens 5-hydroxytryptamine receptor 4 (HTR4), transcript
            variant b, mRNA.
ACCESSION   NM_000870
VERSION     NM_000870.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3336)
  AUTHORS   Kohler-Forsberg K, Ozenne B, Larsen SV, Poulsen AS, Landman EB, Dam
            VH, Ip CT, Jorgensen A, Svarer C, Knudsen GM, Frokjaer VG and
            Jorgensen MB.
  TITLE     Concurrent anxiety in patients with major depression and cerebral
            serotonin 4 receptor binding. A NeuroPharm-1 study
  JOURNAL   Transl Psychiatry 12 (1), 273 (2022)
   PUBMED   35821015
  REMARK    GeneRIF: Concurrent anxiety in patients with major depression and
            cerebral serotonin 4 receptor binding. A NeuroPharm-1 study.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3336)
  AUTHORS   Maillet M, Gastineau M, Bochet P, Asselin-Labat ML, Morel E,
            Laverriere JN, Lompre AM, Fischmeister R and Lezoualc'h F.
  TITLE     Functional studies of the 5'-untranslated region of human 5-HT4
            receptor mRNA
  JOURNAL   Biochem J 387 (Pt 2), 463-471 (2005)
   PUBMED   15575821
  REMARK    GeneRIF: Our results suggest a complex regulation of the h5-HT4
            receptor gene expression involving distinct promoters and non-coding
            exons.
REFERENCE   3  (bases 1 to 3336)
  AUTHORS   Brattelid T, Kvingedal AM, Krobert KA, Andressen KW, Bach T, Hystad
            ME, Kaumann AJ and Levy FO.
  TITLE     Cloning, pharmacological characterisation and tissue distribution of
            a novel 5-HT4 receptor splice variant, 5-HT4(i)
  JOURNAL   Naunyn Schmiedebergs Arch Pharmacol 369 (6), 616-628 (2004)
   PUBMED   15118808
REFERENCE   4  (bases 1 to 3336)
  AUTHORS   Hiroi T, Hayashi-Kobayashi N, Nagumo S, Ino M, Okawa Y, Aoba A and
            Matsui H.
  TITLE     Identification and characterization of the human serotonin-4
            receptor gene promoter
  JOURNAL   Biochem Biophys Res Commun 289 (2), 337-344 (2001)
   PUBMED   11716477
  REMARK    GeneRIF: This paper presents an analysis of the SH3TC2 promoter
            after identifying a read-through transcript of the SH3TC2 and HTR4
            loci. Available data suggests HTR4 is a separate locus with its own
            promoter, and not the product of a bi-cistronic transcript.
REFERENCE   5  (bases 1 to 3336)
  AUTHORS   Bender E, Pindon A, van Oers I, Zhang YB, Gommeren W, Verhasselt P,
            Jurzak M, Leysen J and Luyten W.
  TITLE     Structure of the human serotonin 5-HT4 receptor gene and cloning of
            a novel 5-HT4 splice variant
  JOURNAL   J Neurochem 74 (2), 478-489 (2000)
   PUBMED   10646498
REFERENCE   6  (bases 1 to 3336)
  AUTHORS   Claeysen S, Sebben M, Becamel C, Bockaert J and Dumuis A.
  TITLE     Novel brain-specific 5-HT4 receptor splice variants show marked
            constitutive activity: role of the C-terminal intracellular domain
  JOURNAL   Mol Pharmacol 55 (5), 910-920 (1999)
   PUBMED   10220570
REFERENCE   7  (bases 1 to 3336)
  AUTHORS   Blondel O, Gastineau M, Dahmoune Y, Langlois M and Fischmeister R.
  TITLE     Cloning, expression, and pharmacology of four human
            5-hydroxytryptamine 4 receptor isoforms produced by alternative
            splicing in the carboxyl terminus
  JOURNAL   J Neurochem 70 (6), 2252-2261 (1998)
   PUBMED   9603189
REFERENCE   8  (bases 1 to 3336)
  AUTHORS   Cichon S, Kesper K, Propping P and Nothen MM.
  TITLE     Assignment of the human serotonin 4 receptor gene (HTR4) to the long
            arm of chromosome 5 (5q31-q33)
  JOURNAL   Mol Membr Biol 15 (2), 75-78 (1998)
   PUBMED   9724925
REFERENCE   9  (bases 1 to 3336)
  AUTHORS   Blondel O, Vandecasteele G, Gastineau M, Leclerc S, Dahmoune Y,
            Langlois M and Fischmeister R.
  TITLE     Molecular and functional characterization of a 5-HT4 receptor cloned
            from human atrium
  JOURNAL   FEBS Lett 412 (3), 465-474 (1997)
   PUBMED   9276448
REFERENCE   10  (bases 1 to 3336)
  AUTHORS   Ullmer C, Schmuck K, Kalkman HO and Lubbert H.
  TITLE     Expression of serotonin receptor mRNAs in blood vessels
  JOURNAL   FEBS Lett 370 (3), 215-221 (1995)
   PUBMED   7656980
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AJ131724.1, SRR1803614.139874.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2152568 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000377888.8/ ENSP00000367120.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008627.7, DR000612.1,
            AJ131724.1 and AC091971.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 30, 2019 this sequence version replaced NM_000870.6.
            Summary: This gene is a member of the family of serotonin
            receptors, which are G protein coupled receptors that stimulate
            cAMP production in response to serotonin (5-hydroxytryptamine). The
            gene product is a glycosylated transmembrane protein that functions
            in both the peripheral and central nervous system to modulate the
            release of various neurotransmitters. Multiple transcript variants
            encoding proteins with distinct C-terminal sequences have been
            described. [provided by RefSeq, May 2010].
            Transcript Variant: This variant (b) encodes the longest isoform
            (b).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..3336
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..3336
                     /gene="HTR4"
                     /gene_synonym="5-HT4; 5-HT4R"
                     /note="5-hydroxytryptamine receptor 4"
                     /db_xref="GeneID:3360"
                     /db_xref="HGNC:HGNC:5299"
                     /db_xref="MIM:602164"
     misc_feature    481..483
                     /gene="HTR4"
                     /gene_synonym="5-HT4; 5-HT4R"
                     /note="upstream in-frame stop codon"
     CDS             514..1680
                     /gene="HTR4"
                     /gene_synonym="5-HT4; 5-HT4R"
                     /note="isoform b is encoded by transcript variant b;
                     cardiac 5-HT4 receptor; 5-hydroxytryptamine (serotonin)
                     receptor 4, G protein-coupled"
                     /codon_start=1
                     /product="5-hydroxytryptamine receptor 4 isoform b"
                     /protein_id="NP_000861.1"
                     /db_xref="CCDS:CCDS4291.1"
                     /db_xref="GeneID:3360"
                     /db_xref="HGNC:HGNC:5299"
                     /db_xref="MIM:602164"
                     /translation="MDKLDANVSSEEGFGSVEKVVLLTFLSTVILMAILGNLLVMVAVC
                     WDRQLRKIKTNYFIVSLAFADLLVSVLVMPFGAIELVQDIWIYGEVFCLVRTSLDVLLT
                     TASIFHLCCISLDRYYAICCQPLVYRNKMTPLRIALMLGGCWVIPTFISFLPIMQGWNN
                     IGIIDLIEKRKFNQNSNSTYCVFMVNKPYAITCSVVAFYIPFLLMVLAYYRIYVTAKEH
                     AHQIQMLQRAGASSESRPQSADQHSTHRMRTETKAAKTLCIIMGCFCLCWAPFFVTNIV
                     DPFIDYTVPGQVWTAFLWLGYINSGLNPFLYAFLNKSFRRAFLIILCCDDERYRRPSIL
                     GQTVPCSTTTINGSTHVLRDAVECGGQWESQCHPPATSPLVAAQPSDT"
     misc_feature    532..534
                     /gene="HTR4"
                     /gene_synonym="5-HT4; 5-HT4R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13639.2); glycosylation site"
     misc_feature    571..633
                     /gene="HTR4"
                     /gene_synonym="5-HT4; 5-HT4R"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13639.2);
                     transmembrane region"
     misc_feature    688..750
                     /gene="HTR4"
                     /gene_synonym="5-HT4; 5-HT4R"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13639.2);
                     transmembrane region"
     misc_feature    793..861
                     /gene="HTR4"
                     /gene_synonym="5-HT4; 5-HT4R"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13639.2);
                     transmembrane region"
     misc_feature    925..987
                     /gene="HTR4"
                     /gene_synonym="5-HT4; 5-HT4R"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13639.2);
                     transmembrane region"
     misc_feature    1090..1152
                     /gene="HTR4"
                     /gene_synonym="5-HT4; 5-HT4R"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13639.2);
                     transmembrane region"
     misc_feature    1294..1356
                     /gene="HTR4"
                     /gene_synonym="5-HT4; 5-HT4R"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13639.2);
                     transmembrane region"
     misc_feature    1396..1458
                     /gene="HTR4"
                     /gene_synonym="5-HT4; 5-HT4R"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13639.2);
                     transmembrane region"
ORIGIN
        1 agatgagcag cgctccggcc agggagggcg cgtgctggcc agcccggaac gggtgagatc
       61 gctccagccc gcctctgtgc ccactcccct gtgcgccctg ccggcagagc ggcacccccg
      121 ctgtccctgg cgcccagtgg gggcggcagc gggcagggca gcggggacca ccggggctgg
      181 gggctgttga gcccgtggag tccggctcgg ttggggagaa ggacgatgcg cggcgagccc
      241 aggtgatccg gggctggggt cctgcgcccg cagcccctgg cccgcgcctc acgctcgccg
      301 gctccccagc gcgggggctg gagcccgcac ccgagggggc ggcagggagg gcgcaggcag
      361 cggctgggag cgcagcggca gcggcggcag cagaagctcg gctcagcggc tgggggtggc
      421 cgctcgaatc tgccagggca cctcgctccc tcgcctctgg cagcgggacc ctgtgggcat
      481 tgaaatccaa ctcactcatg cttatttcct gtaatggaca aacttgatgc taatgtgagt
      541 tctgaggagg gtttcgggtc agtggagaag gtggtgctgc tcacgtttct ctcgacggtt
      601 atcctgatgg ccatcttggg gaacctgctg gtgatggtgg ctgtgtgctg ggacaggcag
      661 ctcaggaaaa taaaaacaaa ttatttcatt gtatctcttg cttttgcgga tctgctggtt
      721 tcggtgctgg tgatgccctt tggtgccatt gagctggttc aagacatctg gatttatggg
      781 gaggtgtttt gtcttgttcg gacatctctg gacgtcctgc tcacaacggc atcgattttt
      841 cacctgtgct gcatttctct ggataggtat tacgccatct gctgccagcc tttggtctat
      901 aggaacaaga tgacccctct gcgcatcgca ttaatgctgg gaggctgctg ggtcatcccc
      961 acgtttattt cttttctccc tataatgcaa ggctggaata acattggcat aattgatttg
     1021 atagaaaaga ggaagttcaa ccagaactct aactctacgt actgtgtctt catggtcaac
     1081 aagccctacg ccatcacctg ctctgtggtg gccttctaca tcccatttct cctcatggtg
     1141 ctggcctatt accgcatcta tgtcacagct aaggagcatg cccatcagat ccagatgtta
     1201 caacgggcag gagcctcctc cgagagcagg cctcagtcgg cagaccagca tagcactcat
     1261 cgcatgagga cagagaccaa agcagccaag accctgtgca tcatcatggg ttgcttctgc
     1321 ctctgctggg caccattctt tgtcaccaat attgtggatc ctttcataga ctacactgtc
     1381 cctgggcagg tgtggactgc tttcctctgg ctcggctata tcaattccgg gttgaaccct
     1441 tttctctacg ccttcttgaa taagtctttt agacgtgcct tcctcatcat cctctgctgt
     1501 gatgatgagc gctaccgaag accttccatt ctgggccaga ctgtcccttg ttcaaccaca
     1561 accattaatg gatccacaca tgtactaagg gatgcagtgg agtgtggtgg ccagtgggag
     1621 agtcagtgtc acccgccagc aacttctcct ttggtggctg ctcagcccag tgacacttag
     1681 gcccctggga caatgaccca gaagacagcc atgcctccga aagagggcca ggtcctaagc
     1741 tgctgcttgt gcgcgactgc acccggtatt ctcttcacct gaggctttcc gtccgccagt
     1801 gcaggaaccc ggtgctcgct gggcttttcc tctgagattc cagcaggtgg cgctggaggg
     1861 agtcagggga cataatggcc tccttgttca ctttttattt cccaacactc cctcttccca
     1921 gattctctgc ttttgccgcg tggtctctgg tgtctctgac atgttcccgt cactcactgt
     1981 gtctgatctg tctcactcac gttctaagca cgatagcttg ctgcgtccta tctcggtcac
     2041 tgatgtctcc aaatacgcct tctttgctgt gtgggcttcc agatatcaac aaaatactcc
     2101 ctctctgttc ctgtcttagc cagaggcgtc gctcctgtct tgcttacttg cttggtcacg
     2161 tccgtcacag ccatgttcaa gctatcccct gcctcttctt cgccctgttc tgtgccagac
     2221 gctaacacac ttttctccct gtgtctgggt ccaaacgtgc atcctcttgg ttggccccct
     2281 tgtcagtccc agacgtccac ttgctcttcc ttatgtccaa tgtctgtcct cctcttcagg
     2341 acatgctcca tttattttcc atggaagaca cagggtcaga gatctgtcag aggaaaatgg
     2401 tctccacagc aactctggag ggaagctgaa gacagatagc ttcctcctgg tgtcctggcc
     2461 gctggcgtgt ctgccctgag atgctcgctc tcctgctggg ctagaacggg acgtcttcta
     2521 aaaagccttg ggcagggcta gcaacatcgt aggtgtttat taggcttcag gatctttccc
     2581 atgaacttgt gatatcattt tgaaaccctt caatctggct ttgttgctgc caaaggagat
     2641 aactgttgga agttcacact ggggaaactc attttcccct gcagctcccc caaggtgcag
     2701 gagggcagga tccagcagca ctggggatgc cgaggcaatg ctgtacttga agccagagga
     2761 cccaaattgc cgccctggct gtgctgcaaa caagctgtga gatcttgaat agtgttcttt
     2821 catctctgga ccccactttc cacatctgtg cactcaagct tggactagag gacctttaag
     2881 ttttctttct gtttctaaga caacagtatg ctgctatagc cgtctgctac ctcgagaagc
     2941 catggcctgc ctgccttttg gctttgtttc aaaggaacga ccctcctcat ttgggccttt
     3001 tagacccctg acctttccag ctttgtcctt cagattaatc tggatgtctt ttattcaaag
     3061 ctgagtcagt ggctcttgcg aatgccccat agcagaagtc ccgggaaggt aaatgccaaa
     3121 cccagagcca tgtgagattc tgactttgat cttggctgtg gtttaatagc atctcaggat
     3181 tatttatcat attctctttt tttcttattg cttataaggt gtcagttatt gtttccattg
     3241 ttgtttactt tagttctgga actgaaaccg acaggaagaa actttggaat aaggaagaga
     3301 agattgacca aaccatccaa atgccaaaaa gaaaaa
//
LOCUS       NM_000871               3800 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens 5-hydroxytryptamine receptor 6 (HTR6), mRNA.
ACCESSION   NM_000871
VERSION     NM_000871.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3800)
  AUTHORS   Zhang W, Li L, Li J, Yu H, Zheng F, Yan B, Cai W, Chen Y, Yin L,
            Tang D, Xu Y and Dai Y.
  TITLE     Systematic Analysis of Neurotransmitter Receptors in Human Breast
            Cancer Reveals a Strong Association With Outcome and Uncovers HTR6
            as a Survival-Associated Gene Potentially Regulating the Immune
            Microenvironment
  JOURNAL   Front Immunol 13, 756928 (2022)
   PUBMED   35359970
  REMARK    GeneRIF: Systematic Analysis of Neurotransmitter Receptors in Human
            Breast Cancer Reveals a Strong Association With Outcome and Uncovers
            HTR6 as a Survival-Associated Gene Potentially Regulating the Immune
            Microenvironment. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3800)
  AUTHORS   Doly S, Martin PY and Courteix C.
  TITLE     [5-HT6 receptor-mTOR: An hyperactive couple in neuropathic pain]
  JOURNAL   Med Sci (Paris) 37 (5), 547-549 (2021)
   PUBMED   34003104
  REMARK    GeneRIF: [5-HT6 receptor-mTOR: An hyperactive couple in neuropathic
            pain].', trans 'Recepteur 5-HT6 et mTOR - Un couple hyperactif dans
            la douleur neuropathique.
REFERENCE   3  (bases 1 to 3800)
  AUTHORS   Wang Q, Dong X, Hu T, Qu C, Lu J, Zhou Y, Li J and Pei G.
  TITLE     Constitutive Activity of Serotonin Receptor 6 Regulates Human
            Cerebral Organoids Formation and Depression-like Behaviors
  JOURNAL   Stem Cell Reports 16 (1), 75-88 (2021)
   PUBMED   33357407
  REMARK    GeneRIF: Constitutive Activity of Serotonin Receptor 6 Regulates
            Human Cerebral Organoids Formation and Depression-like Behaviors.
REFERENCE   4  (bases 1 to 3800)
  AUTHORS   Barbeito P, Tachibana Y, Martin-Morales R, Moreno P, Mykytyn K,
            Kobayashi T and Garcia-Gonzalo FR.
  TITLE     HTR6 and SSTR3 ciliary targeting relies on both IC3 loops and
            C-terminal tails
  JOURNAL   Life Sci Alliance 4 (3), e202000746 (2020)
   PUBMED   33372037
  REMARK    GeneRIF: HTR6 and SSTR3 ciliary targeting relies on both IC3 loops
            and C-terminal tails. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3800)
  AUTHORS   Courault P, Emery S, Bouvard S, Liger F, Chauveau F, Meyronet D,
            Fourier A, Billard T, Zimmer L and Lancelot S.
  TITLE     Change in Expression of 5-HT6 Receptor at Different Stages of
            Alzheimer's Disease: A Postmortem Study with the PET
            Radiopharmaceutical [18F]2FNQ1P
  JOURNAL   J Alzheimers Dis 75 (4), 1329-1338 (2020)
   PUBMED   32417774
  REMARK    GeneRIF: Change in Expression of 5-HT6 Receptor at Different Stages
            of Alzheimer's Disease: A Postmortem Study with the PET
            Radiopharmaceutical [18F]2FNQ1P.
REFERENCE   6  (bases 1 to 3800)
  AUTHORS   Lambe EK, Fillman SG, Webster MJ and Shannon Weickert C.
  TITLE     Serotonin receptor expression in human prefrontal cortex: balancing
            excitation and inhibition across postnatal development
  JOURNAL   PLoS One 6 (7), e22799 (2011)
   PUBMED   21829518
REFERENCE   7  (bases 1 to 3800)
  AUTHORS   Masellis M, Basile VS, Meltzer HY, Lieberman JA, Sevy S, Goldman DA,
            Hamblin MW, Macciardi FM and Kennedy JL.
  TITLE     Lack of association between the T-->C 267 serotonin 5-HT6 receptor
            gene (HTR6) polymorphism and prediction of response to clozapine in
            schizophrenia
  JOURNAL   Schizophr Res 47 (1), 49-58 (2001)
   PUBMED   11163544
  REMARK    GeneRIF: Observational study of gene-environment interaction and
            pharmacogenomic / toxicogenomic. (HuGE Navigator)
REFERENCE   8  (bases 1 to 3800)
  AUTHORS   Chiu HJ, Wang YC, Liou JH, Chao CH, Lee H, Tsai KY and Liu WC.
  TITLE     Serotonin 6 receptor polymorphism in schizophrenia: frequency, age
            at onset and cognitive function
  JOURNAL   Neuropsychobiology 43 (3), 113-116 (2001)
   PUBMED   11287786
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 3800)
  AUTHORS   Comings DE, Gade-Andavolu R, Gonzalez N, Wu S, Muhleman D, Blake H,
            Mann MB, Dietz G, Saucier G and MacMurray JP.
  TITLE     A multivariate analysis of 59 candidate genes in personality traits:
            the temperament and character inventory
  JOURNAL   Clin Genet 58 (5), 375-385 (2000)
   PUBMED   11140838
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   10  (bases 1 to 3800)
  AUTHORS   Kohen R, Metcalf MA, Khan N, Druck T, Huebner K, Lachowicz JE,
            Meltzer HY, Sibley DR, Roth BL and Hamblin MW.
  TITLE     Cloning, characterization, and chromosomal localization of a human
            5-HT6 serotonin receptor
  JOURNAL   J Neurochem 66 (1), 47-56 (1996)
   PUBMED   8522988
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L41147.1, BC074995.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000289753.2/ ENSP00000289753.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031727.43, L41147.1 and
            AF007141.1.
            On Nov 23, 2018 this sequence version replaced NM_000871.2.
            Summary: This gene encodes a protein that belongs to the
            seven-transmembrane G protein-coupled receptor family of proteins.
            The encoded protein couples with the Gs alpha subunit and
            stimulates adenylate cyclase to activate the cyclic AMP-dependent
            signaling pathway. This receptor is thought to regulate cholinergic
            neuronal transmission in the brain. Several antidepressants and
            antipsychotic drugs have a high affinity for this receptor.
            [provided by RefSeq, Aug 2013].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3800
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     gene            1..3800
                     /gene="HTR6"
                     /gene_synonym="5-HT6; 5-HT6R"
                     /note="5-hydroxytryptamine receptor 6"
                     /db_xref="GeneID:3362"
                     /db_xref="HGNC:HGNC:5301"
                     /db_xref="MIM:601109"
     misc_feature    769..771
                     /gene="HTR6"
                     /gene_synonym="5-HT6; 5-HT6R"
                     /note="upstream in-frame stop codon"
     CDS             880..2202
                     /gene="HTR6"
                     /gene_synonym="5-HT6; 5-HT6R"
                     /note="serotonin receptor 6; 5-hydroxytryptamine
                     (serotonin) receptor 6, G protein-coupled"
                     /codon_start=1
                     /product="5-hydroxytryptamine receptor 6"
                     /protein_id="NP_000862.1"
                     /db_xref="CCDS:CCDS197.1"
                     /db_xref="GeneID:3362"
                     /db_xref="HGNC:HGNC:5301"
                     /db_xref="MIM:601109"
                     /translation="MVPEPGPTANSTPAWGAGPPSAPGGSGWVAAALCVVIALTAAANS
                     LLIALICTQPALRNTSNFFLVSLFTSDLMVGLVVMPPAMLNALYGRWVLARGLCLLWTA
                     FDVMCCSASILNLCLISLDRYLLILSPLRYKLRMTPLRALALVLGAWSLAALASFLPLL
                     LGWHELGHARPPVPGQCRLLASLPFVLVASGLTFFLPSGAICFTYCRILLAARKQAVQV
                     ASLTTGMASQASETLQVPRTPRPGVESADSRRLATKHSRKALKASLTLGILLGMFFVTW
                     LPFFVANIVQAVCDCISPGLFDVLTWLGYCNSTMNPIIYPLFMRDFKRALGRFLPCPRC
                     PRERQASLASPSLRTSHSGPRPGLSLQQVLPLPLPPDSDSDSDAGSGGSSGLRLTAQLL
                     LPGEATQDPPLPTRAAAAVNFFNIDPAEPELRPHPLGIPTN"
     misc_feature    982..1050
                     /gene="HTR6"
                     /gene_synonym="5-HT6; 5-HT6R"
                     /note="propagated from UniProtKB/Swiss-Prot (P50406.1);
                     transmembrane region"
     misc_feature    1072..1134
                     /gene="HTR6"
                     /gene_synonym="5-HT6; 5-HT6R"
                     /note="propagated from UniProtKB/Swiss-Prot (P50406.1);
                     transmembrane region"
     misc_feature    1180..1245
                     /gene="HTR6"
                     /gene_synonym="5-HT6; 5-HT6R"
                     /note="propagated from UniProtKB/Swiss-Prot (P50406.1);
                     transmembrane region"
     misc_feature    1312..1377
                     /gene="HTR6"
                     /gene_synonym="5-HT6; 5-HT6R"
                     /note="propagated from UniProtKB/Swiss-Prot (P50406.1);
                     transmembrane region"
     misc_feature    1432..1503
                     /gene="HTR6"
                     /gene_synonym="5-HT6; 5-HT6R"
                     /note="propagated from UniProtKB/Swiss-Prot (P50406.1);
                     transmembrane region"
     misc_feature    1675..1749
                     /gene="HTR6"
                     /gene_synonym="5-HT6; 5-HT6R"
                     /note="propagated from UniProtKB/Swiss-Prot (P50406.1);
                     transmembrane region"
     misc_feature    1765..1839
                     /gene="HTR6"
                     /gene_synonym="5-HT6; 5-HT6R"
                     /note="propagated from UniProtKB/Swiss-Prot (P50406.1);
                     transmembrane region"
     misc_feature    1915..2055
                     /gene="HTR6"
                     /gene_synonym="5-HT6; 5-HT6R"
                     /note="propagated from UniProtKB/Swiss-Prot (P50406.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3780..3785
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HTR6"
                     /gene_synonym="5-HT6; 5-HT6R"
                     /note="hexamer: AATAAA"
     polyA_site      3800
                     /gene="HTR6"
                     /gene_synonym="5-HT6; 5-HT6R"
                     /note="major polyA site"
ORIGIN
        1 gcacccggcc tctcctccgc gcgtgcgggc ccctcgcggc gcctcccggg ctcgggagac
       61 ccggtcccgc cgcccgcccg gcccgcggcc gcctcttcct ctcgcagccc cgcggcgctt
      121 gccgcagtcg caggcggcgg agcagccaga gcgccccagg taccagtgcg ggcgggagac
      181 ggaggcgacc ctgctgccgg gtggggaggg ggcgccgcgc ggccgctgcc ctcctcttcc
      241 cgcggggcct ggcggccccg gcgaaccccc gcgccgcaca ggccgtgtgc gccggatccc
      301 ggtgcctccg cgccagctga gacctgcctt tcccaggggc ggctttgctc cggcccctag
      361 gcccccgccc tggtacccca cacgcccacc ggccgcgggg agcctgctcc ggcccgagag
      421 cgcccattca cccccctcac ccacctcccc gcgttcccac ttccccgcac tctgacccgg
      481 ccggacgccc ctcccctatc ttgccgcccg ccccctccag ggggctctgc tcccacccca
      541 gggagcccat ccgacctctg cttgacttcc cgccgcttcc ttcaggggcc tcggctcatc
      601 gggtgcccct ccccaaactt ccaacccgtt tgctccagga gttcctgccc catccccgag
      661 ggcgcccaaa tagccacact gtgtcctcct gtagtcgctg ccccctgacc tagcgcgacc
      721 cagcgccccc gcccatgtcc ccccactcac ctcccccggg gggcgtggtg agtcgcggtc
      781 tgttctcacg gacggtcccc gtccagcctg cgcttcgccg gggccctcat ctgctttccc
      841 gccaccctat cactcccttg ccgtccaccc tcggtcctca tggtcccaga gccgggccca
      901 accgccaata gcaccccggc ctggggggca gggccgccgt cggccccggg gggcagcggc
      961 tgggtggcgg ccgcgctgtg cgtggtcatc gcgctgacgg cggcggccaa ctcgctgctg
     1021 atcgcgctca tctgcactca gcccgcgctg cgcaacacgt ccaacttctt cctggtgtcg
     1081 ctcttcacgt ctgacctgat ggtggggctg gtggtgatgc cgccggccat gctgaacgcg
     1141 ctgtacgggc gctgggtgct ggcgcgcggc ctctgcctgc tctggaccgc cttcgacgtg
     1201 atgtgctgca gcgcctccat cctcaacctc tgcctcatca gcctggaccg ctacctgctc
     1261 atcctctcgc cgctgcgcta caagctgcgc atgacgcccc tgcgtgccct ggccctagtc
     1321 ctgggcgcct ggagcctcgc cgctctcgcc tccttcctgc ccctgctgct gggctggcac
     1381 gagctgggcc acgcacggcc acccgtccct ggccagtgcc gcctgctggc cagcctgcct
     1441 tttgtccttg tggcgtcggg cctcaccttc ttcctgccct cgggtgccat atgcttcacc
     1501 tactgcagga tcctgctagc tgcccgcaag caggccgtgc aggtggcctc cctcaccacc
     1561 ggcatggcca gtcaggcctc ggagacgctg caggtgccca ggaccccacg cccaggggtg
     1621 gagtctgctg acagcaggcg tctagccacg aagcacagca ggaaggccct gaaggccagc
     1681 ctgacgctgg gcatcctgct gggcatgttc tttgtgacct ggttgccctt ctttgtggcc
     1741 aacatagtcc aggccgtgtg cgactgcatc tccccaggcc tcttcgatgt cctcacatgg
     1801 ctgggttact gtaacagcac catgaacccc atcatctacc cactcttcat gcgggacttc
     1861 aagcgggcgc tgggcaggtt cctgccatgt ccacgctgtc cccgggagcg ccaggccagc
     1921 ctggcctcgc catcactgcg cacctctcac agcggccccc ggcccggcct tagcctacag
     1981 caggtgctgc cgctgcccct gccgccggac tcagattcgg actcagacgc aggctcaggc
     2041 ggctcctcgg gcctgcggct cacggcccag ctgctgcttc ctggcgaggc cacccaggac
     2101 cccccgctgc ccaccagggc cgctgccgcc gtcaatttct tcaacatcga ccccgcggag
     2161 cccgagctgc ggccgcatcc acttggcatc cccacgaact gacccgggct tggggctggc
     2221 caatggggag ctggattgag cagaacccag accctgagtc cttgggccag ctcttggcta
     2281 agaccaggag gctgcaagtc tcctagaagc cctctgagct ccagaggggt gcgcagagct
     2341 gaccccctgc tgccatctcc aggcccctta cctgcaggga tcatagctga ctcagatatc
     2401 gtgttctgaa ggatgctcca ctgttgagtg taacttgtgt gtgcagagga tgggctggag
     2461 gactctggat gttggggaga aggacctctt ggttcaggtt aggatgaaaa caatcatgac
     2521 ctttgcccat tctgtcaggc tggacgggag ggaatgcccc cacctgcagg catggattaa
     2581 tgctgggctg aaccccttgc tactcacagt gtagtccatg gacaatcggc attgccgtca
     2641 cctttgggag tttgtgaaaa atgcacatct ctgcccctgc ccagacctgc tgagtcagaa
     2701 ctgcatgtta ccaagatccc aggtgaatca tgtgcccatt acagtttgag atgtgctgcc
     2761 ttagatcatc tttaaccctc agaatgattt gctggatggt ttttggacct gtcagtctcc
     2821 cctccctggt atatatgtgg cagcagctgc acctgggagg caggcaggca tgcatgtggg
     2881 cctctgctct accacctatg agctctgggg cctgacacga gttatttaac ctctccgagc
     2941 ctcggttatc ccatgtgtaa ggtagagaaa tgatgcctat cttgcaggtt gtcttgagaa
     3001 ttaagacaat gtgtgcccag cacccagtac acggtcagtt aattggtacg ttctgttgtt
     3061 acgacccccg gctatccagc cccctggcct ctccggctgt gtgtcaggaa gggctctttg
     3121 ctcccgttgt tctctttcca tttgcctccc cctcttcagc cctggcctag cctcccaaag
     3181 cctgactctg gttccccaac tccctgttct ggctcctggg tggggacccc atctctcagg
     3241 gaccctccca gctcccaagc tgctgccctg cctttcctgg gggcaaaagg ggcaggtggc
     3301 agtttctttt tcagcctcag aactggtttt cctcaatcct ggggggtcct tggacctaga
     3361 agggaacaac tgatggggat aaacccagcc ccttgcccac ctgcctctgg ccttccctgg
     3421 ggtcagtgag agaaatggga atggtagcta cttgggtcag cagagtagag tcaaagagct
     3481 gttcctggtg tgaggtgggg cccacgaggc aggcaggtgg actctggcac aggggccttg
     3541 gtttctgggg gcagggggtt ggggaactct tggtcgccag tttacctgcc ataggtccct
     3601 tttcagccct gcctccccca agttccatca acacaaactc ccagggggtc ctccatgcct
     3661 ggcctggccc tctccttggt gctgatgaga cacaactctg gccccggcgg ctggcctctg
     3721 aggggccatg gtgcttgcgg ggcttcccct atcccccagg tctgcccaag gggactctca
     3781 ataaactcta gctgaaggca
//
LOCUS       NM_000875              12235 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens insulin like growth factor 1 receptor (IGF1R),
            transcript variant 1, mRNA.
ACCESSION   NM_000875
VERSION     NM_000875.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 12235)
  AUTHORS   Wang S, Wang X, Shen K, Wei C and Li J.
  TITLE     Insulin-like growth factor 1 receptor inhibits the proliferation of
            acute myeloid leukaemia cells via NK cell activation
  JOURNAL   Ann Hematol 102 (9), 2353-2364 (2023)
   PUBMED   37522970
  REMARK    GeneRIF: Insulin-like growth factor 1 receptor inhibits the
            proliferation of acute myeloid leukaemia cells via NK cell
            activation.
REFERENCE   2  (bases 1 to 12235)
  AUTHORS   Galifi CA and Wood TL.
  TITLE     Insulin-like growth factor-1 receptor crosstalk with integrins,
            cadherins, and the tumor microenvironment: sticking points in
            understanding IGF1R function in cancer
  JOURNAL   Endocr Relat Cancer 30 (10), e230031 (2023)
   PUBMED   37490874
  REMARK    GeneRIF: Insulin-like growth factor-1 receptor crosstalk with
            integrins, cadherins, and the tumor microenvironment: sticking
            points in understanding IGF1R function in cancer. Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 12235)
  AUTHORS   Gil-Martinez M, Lorente-Sorolla C, Rodrigo-Munoz JM, Naharro S,
            Garcia-de Castro Z, Sastre J, Valverde-Monge M, Quirce S, Caballero
            ML, Olaguibel JM and Del Pozo V.
  TITLE     Obese Asthma Phenotype Is Associated with hsa-miR-26a-1-3p and
            hsa-miR-376a-3p Modulating the IGF Axis
  JOURNAL   Int J Mol Sci 24 (14), 11620 (2023)
   PUBMED   37511378
  REMARK    GeneRIF: Obese Asthma Phenotype Is Associated with hsa-miR-26a-1-3p
            and hsa-miR-376a-3p Modulating the IGF Axis. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 12235)
  AUTHORS   Ma L, Zhao W, Huang S, Xu F, Wang Y, Deng D, Zhang T, Shu S and Chen
            X.
  TITLE     IGF/IGF-1R signal pathway in pain: a promising therapeutic target
  JOURNAL   Int J Biol Sci 19 (11), 3472-3482 (2023)
   PUBMED   37497005
  REMARK    GeneRIF: IGF/IGF-1R signal pathway in pain: a promising therapeutic
            target. Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 12235)
  AUTHORS   Meng Z, Jackson NL, Choi H, King PH, Emanuel PD and Blume SW.
  TITLE     Alterations in RNA-binding activities of IRES-regulatory proteins as
            a mechanism for physiological variability and pathological
            dysregulation of IGF-IR translational control in human breast tumor
            cells
  JOURNAL   J Cell Physiol 217 (1), 172-183 (2008)
   PUBMED   18452152
  REMARK    GeneRIF: dysregulation of the IGF-IR internal ribosomal entry site
            through changes in the activities of RNA-binding
            translation-regulatory proteins could be responsible for IGF-IR
            overexpression in a proportion of human breast tumors.
REFERENCE   6  (bases 1 to 12235)
  AUTHORS   Abbott AM, Bueno R, Pedrini MT, Murray JM and Smith RJ.
  TITLE     Insulin-like growth factor I receptor gene structure
  JOURNAL   J Biol Chem 267 (15), 10759-10763 (1992)
   PUBMED   1316909
REFERENCE   7  (bases 1 to 12235)
  AUTHORS   Cooke DW, Bankert LA, Roberts CT Jr, LeRoith D and Casella SJ.
  TITLE     Analysis of the human type I insulin-like growth factor receptor
            promoter region
  JOURNAL   Biochem Biophys Res Commun 177 (3), 1113-1120 (1991)
   PUBMED   1711844
REFERENCE   8  (bases 1 to 12235)
  AUTHORS   Burguera B, Frank BH, DiMarchi R, Long S and Caro JF.
  TITLE     The interaction of proinsulin with the insulin-like growth factor-I
            receptor in human liver, muscle, and adipose tissue
  JOURNAL   J Clin Endocrinol Metab 72 (6), 1238-1241 (1991)
   PUBMED   1851182
REFERENCE   9  (bases 1 to 12235)
  AUTHORS   Rom WN and Paakko P.
  TITLE     Activated alveolar macrophages express the insulin-like growth
            factor-I receptor
  JOURNAL   Am J Respir Cell Mol Biol 4 (5), 432-439 (1991)
   PUBMED   1850606
REFERENCE   10  (bases 1 to 12235)
  AUTHORS   Tollefsen SE, Stoszek RM and Thompson K.
  TITLE     Interaction of the alpha beta dimers of the insulin-like growth
            factor I receptor is required for receptor autophosphorylation
  JOURNAL   Biochemistry 30 (1), 48-54 (1991)
   PUBMED   1846292
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X04434.1, BC113610.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000650285.1/ ENSP00000497069.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC118658.4, AB425196.1,
            X04434.1, BC113610.1, AC069029.9 and BC088377.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000875.4.
            Summary: This receptor binds insulin-like growth factor with a high
            affinity. It has tyrosine kinase activity. The insulin-like growth
            factor I receptor plays a critical role in transformation events.
            Cleavage of the precursor generates alpha and beta subunits. It is
            highly overexpressed in most malignant tissues where it functions
            as an anti-apoptotic agent by enhancing cell survival.
            Alternatively spliced transcript variants encoding distinct
            isoforms have been found for this gene. [provided by RefSeq, May
            2014].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..12235
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     gene            1..12235
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="insulin like growth factor 1 receptor"
                     /db_xref="GeneID:3480"
                     /db_xref="HGNC:HGNC:5465"
                     /db_xref="MIM:147370"
     misc_feature    1011..1013
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="upstream in-frame stop codon"
     CDS             1044..5147
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /EC_number="2.7.10.1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; IGF-I receptor"
                     /codon_start=1
                     /product="insulin-like growth factor 1 receptor isoform 1
                     precursor"
                     /protein_id="NP_000866.1"
                     /db_xref="CCDS:CCDS10378.1"
                     /db_xref="GeneID:3480"
                     /db_xref="HGNC:HGNC:5465"
                     /db_xref="MIM:147370"
                     /translation="MKSGSGGGSPTSLWGLLFLSAALSLWPTSGEICGPGIDIRNDYQQ
                     LKRLENCTVIEGYLHILLISKAEDYRSYRFPKLTVITEYLLLFRVAGLESLGDLFPNLT
                     VIRGWKLFYNYALVIFEMTNLKDIGLYNLRNITRGAIRIEKNADLCYLSTVDWSLILDA
                     VSNNYIVGNKPPKECGDLCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQKMCPSTCGKR
                     ACTENNECCHPECLGSCSAPDNDTACVACRHYYYAGVCVPACPPNTYRFEGWRCVDRDF
                     CANILSAESSDSEGFVIHDGECMQECPSGFIRNGSQSMYCIPCEGPCPKVCEEEKKTKT
                     IDSVTSAQMLQGCTIFKGNLLINIRRGNNIASELENFMGLIEVVTGYVKIRHSHALVSL
                     SFLKNLRLILGEEQLEGNYSFYVLDNQNLQQLWDWDHRNLTIKAGKMYFAFNPKLCVSE
                     IYRMEEVTGTKGRQSKGDINTRNNGERASCESDVLHFTSTTTSKNRIIITWHRYRPPDY
                     RDLISFTVYYKEAPFKNVTEYDGQDACGSNSWNMVDVDLPPNKDVEPGILLHGLKPWTQ
                     YAVYVKAVTLTMVENDHIRGAKSEILYIRTNASVPSIPLDVLSASNSSSQLIVKWNPPS
                     LPNGNLSYYIVRWQRQPQDGYLYRHNYCSKDKIPIRKYADGTIDIEEVTENPKTEVCGG
                     EKGPCCACPKTEAEKQAEKEEAEYRKVFENFLHNSIFVPRPERKRRDVMQVANTTMSSR
                     SRNTTAADTYNITDPEELETEYPFFESRVDNKERTVISNLRPFTLYRIDIHSCNHEAEK
                     LGCSASNFVFARTMPAEGADDIPGPVTWEPRPENSIFLKWPEPENPNGLILMYEIKYGS
                     QVEDQRECVSRQEYRKYGGAKLNRLNPGNYTARIQATSLSGNGSWTDPVFFYVQAKTGY
                     ENFIHLIIALPVAVLLIVGGLVIMLYVFHRKRNNSRLGNGVLYASVNPEYFSAADVYVP
                     DEWEVAREKITMSRELGQGSFGMVYEGVAKGVVKDEPETRVAIKTVNEAASMRERIEFL
                     NEASVMKEFNCHHVVRLLGVVSQGQPTLVIMELMTRGDLKSYLRSLRPEMENNPVLAPP
                     SLSKMIQMAGEIADGMAYLNANKFVHRDLAARNCMVAEDFTVKIGDFGMTRDIYETDYY
                     RKGGKGLLPVRWMSPESLKDGVFTTYSDVWSFGVVLWEIATLAEQPYQGLSNEQVLRFV
                     MEGGLLDKPDNCPDMLFELMRMCWQYNPKMRPSFLEIISSIKEEMEPGFREVSFYYSEE
                     NKLPEPEELDLEPENMESVPLDPSASSSSLPLPDRHSGHKAENGPGPGVLVLRASFDER
                     QPYAHMNGGRKNERALPLPQSSTC"
     sig_peptide     1044..1133
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     1134..5144
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /product="insulin-like growth factor 1 receptor isoform 1"
     mat_peptide     1134..3251
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /product="Insulin-like growth factor 1 receptor alpha
                     chain. /id=PRO_0000016681"
                     /note="propagated from UniProtKB/Swiss-Prot (P08069.1)"
     misc_feature    1194..1196
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:9690478; propagated from
                     UniProtKB/Swiss-Prot (P08069.1); glycosylation site"
     misc_feature    1347..1349
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08069.1); glycosylation site"
     misc_feature    1446..1448
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:9690478; propagated from
                     UniProtKB/Swiss-Prot (P08069.1); glycosylation site"
     misc_feature    1773..1775
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:9690478; propagated from
                     UniProtKB/Swiss-Prot (P08069.1); glycosylation site"
     misc_feature    1983..1985
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:9690478; propagated from
                     UniProtKB/Swiss-Prot (P08069.1); glycosylation site"
     misc_feature    2292..2294
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08069.1); glycosylation site"
     misc_feature    2355..2357
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08069.1); glycosylation site"
     misc_feature    2643..2645
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08069.1); glycosylation site"
     misc_feature    2862..2864
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08069.1); glycosylation site"
     misc_feature    2907..2909
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08069.1); glycosylation site"
     misc_feature    2961..2963
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08069.1); glycosylation site"
     mat_peptide     3264..5144
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /product="Insulin-like growth factor 1 receptor beta chain.
                     /id=PRO_0000016682"
                     /note="propagated from UniProtKB/Swiss-Prot (P08069.1)"
     misc_feature    3282..3284
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08069.1); glycosylation site"
     misc_feature    3309..3311
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08069.1); glycosylation site"
     misc_feature    3333..3335
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08069.1); glycosylation site"
     misc_feature    3741..3743
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08069.1); glycosylation site"
     misc_feature    3780..3782
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08069.1); glycosylation site"
     misc_feature    3849..3920
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="propagated from UniProtKB/Swiss-Prot (P08069.1);
                     transmembrane region"
     misc_feature    3972..3983
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="propagated from UniProtKB/Swiss-Prot (P08069.1);
                     Region: IRS1-and SHC1-binding"
     misc_feature    3981..3983
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000305|PubMed:7541045; propagated from
                     UniProtKB/Swiss-Prot (P08069.1); phosphorylation site"
     misc_feature    4524..4526
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:11694888,
                     ECO:0000269|PubMed:18501599, ECO:0000269|PubMed:19041240;
                     propagated from UniProtKB/Swiss-Prot (P08069.1);
                     phosphorylation site"
     misc_feature    4536..4538
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:11694888,
                     ECO:0000269|PubMed:18501599, ECO:0000269|PubMed:19041240;
                     propagated from UniProtKB/Swiss-Prot (P08069.1);
                     phosphorylation site"
     misc_feature    4539..4541
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:11694888,
                     ECO:0000269|PubMed:18501599, ECO:0000269|PubMed:19041240;
                     propagated from UniProtKB/Swiss-Prot (P08069.1);
                     phosphorylation site"
     misc_feature    4875..4877
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="Phosphoserine, by GSK3-beta.
                     /evidence=ECO:0000250|UniProtKB:Q60751; propagated from
                     UniProtKB/Swiss-Prot (P08069.1); phosphorylation site"
     misc_feature    4887..4889
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q60751; propagated from
                     UniProtKB/Swiss-Prot (P08069.1); phosphorylation site"
     misc_feature    4905..5144
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="propagated from UniProtKB/Swiss-Prot (P08069.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      12215..12220
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="hexamer: AATAAA"
     polyA_site      12235
                     /gene="IGF1R"
                     /gene_synonym="CD221; IGFIR; IGFR; JTK13"
                     /note="major polyA site"
ORIGIN
        1 agtgtgtggc agcggcggcg gcggcgcggc gaggctgggg ctcttgttta ccagcattaa
       61 ctccgctgag cggaaaaaaa aagggaaaaa acccgaggag gagcgagcgc accaggcgaa
      121 ctcgagagag gcgggagagc gagagggacg ccgccagcga gcctgcccac ggccggcgct
      181 cgcagaccct cggccccgct ccccggatcc ccccgcgccc tccacgcccc tcccgcgcgg
      241 gggcagctcc acggcgcgcc tcgcctcggc tgtgaccttc agcgagccgg agcccccgcg
      301 cagagcaggc ggcggcgggc gggggccggg cgggggccgg cgcggggcgg gcggcggcgc
      361 agagccgggc ggcgcggcgg gagtgctgag cgcggcgcgg ccggcccgcc gctttgtgtg
      421 tgtcctggat ttgggaagga gctcgccgcg gcggcggcgg cgctgaggga ggaggcggcg
      481 gcgagcggag ccaggaggag gaggaggagg gggagccgct cattcatttt gactccgcgt
      541 ttctgcccct cgccggcctc gcctgtgacc cggacttcgg ggcgatcttg cgaactgcgt
      601 cgcgccctcc cgcggcggaa gctcgggcgt ccggccgcct cccgcgcggc cagggccggg
      661 cttgtttttc ctcgcctagg cagatttggg ctttgccccc tttctttgca gttttccccc
      721 cttcctgcct ctccgggttt gaaaatggag gccgacgacg ccgacagccc gccccggcgc
      781 gcctcgggtt cccgactccg ccgagccctg ggccgctgct gccggcgctg aggggccgcc
      841 ccgcgccgcc cgccccgtcc gcgcacccgg agggccccgg cggcgccgcc ttcggagtat
      901 tgtttccttc gcccttgttt ttggaggggg agcgaagact gagtttgaga cttgtttcct
      961 ttcatttcct ttttttcttt tcttttcttt tttttttttt tttttttttt tgagaaaggg
     1021 gaatttcatc ccaaataaaa ggaatgaagt ctggctccgg aggagggtcc ccgacctcgc
     1081 tgtgggggct cctgtttctc tccgccgcgc tctcgctctg gccgacgagt ggagaaatct
     1141 gcgggccagg catcgacatc cgcaacgact atcagcagct gaagcgcctg gagaactgca
     1201 cggtgatcga gggctacctc cacatcctgc tcatctccaa ggccgaggac taccgcagct
     1261 accgcttccc caagctcacg gtcattaccg agtacttgct gctgttccga gtggctggcc
     1321 tcgagagcct cggagacctc ttccccaacc tcacggtcat ccgcggctgg aaactcttct
     1381 acaactacgc cctggtcatc ttcgagatga ccaatctcaa ggatattggg ctttacaacc
     1441 tgaggaacat tactcggggg gccatcagga ttgagaaaaa tgctgacctc tgttacctct
     1501 ccactgtgga ctggtccctg atcctggatg cggtgtccaa taactacatt gtggggaata
     1561 agcccccaaa ggaatgtggg gacctgtgtc cagggaccat ggaggagaag ccgatgtgtg
     1621 agaagaccac catcaacaat gagtacaact accgctgctg gaccacaaac cgctgccaga
     1681 aaatgtgccc aagcacgtgt gggaagcggg cgtgcaccga gaacaatgag tgctgccacc
     1741 ccgagtgcct gggcagctgc agcgcgcctg acaacgacac ggcctgtgta gcttgccgcc
     1801 actactacta tgccggtgtc tgtgtgcctg cctgcccgcc caacacctac aggtttgagg
     1861 gctggcgctg tgtggaccgt gacttctgcg ccaacatcct cagcgccgag agcagcgact
     1921 ccgaggggtt tgtgatccac gacggcgagt gcatgcagga gtgcccctcg ggcttcatcc
     1981 gcaacggcag ccagagcatg tactgcatcc cttgtgaagg tccttgcccg aaggtctgtg
     2041 aggaagaaaa gaaaacaaag accattgatt ctgttacttc tgctcagatg ctccaaggat
     2101 gcaccatctt caagggcaat ttgctcatta acatccgacg ggggaataac attgcttcag
     2161 agctggagaa cttcatgggg ctcatcgagg tggtgacggg ctacgtgaag atccgccatt
     2221 ctcatgcctt ggtctccttg tccttcctaa aaaaccttcg cctcatccta ggagaggagc
     2281 agctagaagg gaattactcc ttctacgtcc tcgacaacca gaacttgcag caactgtggg
     2341 actgggacca ccgcaacctg accatcaaag cagggaaaat gtactttgct ttcaatccca
     2401 aattatgtgt ttccgaaatt taccgcatgg aggaagtgac ggggactaaa gggcgccaaa
     2461 gcaaagggga cataaacacc aggaacaacg gggagagagc ctcctgtgaa agtgacgtcc
     2521 tgcatttcac ctccaccacc acgtcgaaga atcgcatcat cataacctgg caccggtacc
     2581 ggccccctga ctacagggat ctcatcagct tcaccgttta ctacaaggaa gcacccttta
     2641 agaatgtcac agagtatgat gggcaggatg cctgcggctc caacagctgg aacatggtgg
     2701 acgtggacct cccgcccaac aaggacgtgg agcccggcat cttactacat gggctgaagc
     2761 cctggactca gtacgccgtt tacgtcaagg ctgtgaccct caccatggtg gagaacgacc
     2821 atatccgtgg ggccaagagt gagatcttgt acattcgcac caatgcttca gttccttcca
     2881 ttcccttgga cgttctttca gcatcgaact cctcttctca gttaatcgtg aagtggaacc
     2941 ctccctctct gcccaacggc aacctgagtt actacattgt gcgctggcag cggcagcctc
     3001 aggacggcta cctttaccgg cacaattact gctccaaaga caaaatcccc atcaggaagt
     3061 atgccgacgg caccatcgac attgaggagg tcacagagaa ccccaagact gaggtgtgtg
     3121 gtggggagaa agggccttgc tgcgcctgcc ccaaaactga agccgagaag caggccgaga
     3181 aggaggaggc tgaataccgc aaagtctttg agaatttcct gcacaactcc atcttcgtgc
     3241 ccagacctga aaggaagcgg agagatgtca tgcaagtggc caacaccacc atgtccagcc
     3301 gaagcaggaa caccacggcc gcagacacct acaacatcac cgacccggaa gagctggaga
     3361 cagagtaccc tttctttgag agcagagtgg ataacaagga gagaactgtc atttctaacc
     3421 ttcggccttt cacattgtac cgcatcgata tccacagctg caaccacgag gctgagaagc
     3481 tgggctgcag cgcctccaac ttcgtctttg caaggactat gcccgcagaa ggagcagatg
     3541 acattcctgg gccagtgacc tgggagccaa ggcctgaaaa ctccatcttt ttaaagtggc
     3601 cggaacctga gaatcccaat ggattgattc taatgtatga aataaaatac ggatcacaag
     3661 ttgaggatca gcgagaatgt gtgtccagac aggaatacag gaagtatgga ggggccaagc
     3721 taaaccggct aaacccgggg aactacacag cccggattca ggccacatct ctctctggga
     3781 atgggtcgtg gacagatcct gtgttcttct atgtccaggc caaaacagga tatgaaaact
     3841 tcatccatct gatcatcgct ctgcccgtcg ctgtcctgtt gatcgtggga gggttggtga
     3901 ttatgctgta cgtcttccat agaaagagaa ataacagcag gctggggaat ggagtgctgt
     3961 atgcctctgt gaacccggag tacttcagcg ctgctgatgt gtacgttcct gatgagtggg
     4021 aggtggctcg ggagaagatc accatgagcc gggaacttgg gcaggggtcg tttgggatgg
     4081 tctatgaagg agttgccaag ggtgtggtga aagatgaacc tgaaaccaga gtggccatta
     4141 aaacagtgaa cgaggccgca agcatgcgtg agaggattga gtttctcaac gaagcttctg
     4201 tgatgaagga gttcaattgt caccatgtgg tgcgattgct gggtgtggtg tcccaaggcc
     4261 agccaacact ggtcatcatg gaactgatga cacggggcga tctcaaaagt tatctccggt
     4321 ctctgaggcc agaaatggag aataatccag tcctagcacc tccaagcctg agcaagatga
     4381 ttcagatggc cggagagatt gcagacggca tggcatacct caacgccaat aagttcgtcc
     4441 acagagacct tgctgcccgg aattgcatgg tagccgaaga tttcacagtc aaaatcggag
     4501 attttggtat gacgcgagat atctatgaga cagactatta ccggaaagga gggaaagggc
     4561 tgctgcccgt gcgctggatg tctcctgagt ccctcaagga tggagtcttc accacttact
     4621 cggacgtctg gtccttcggg gtcgtcctct gggagatcgc cacactggcc gagcagccct
     4681 accagggctt gtccaacgag caagtccttc gcttcgtcat ggagggcggc cttctggaca
     4741 agccagacaa ctgtcctgac atgctgtttg aactgatgcg catgtgctgg cagtataacc
     4801 ccaagatgag gccttccttc ctggagatca tcagcagcat caaagaggag atggagcctg
     4861 gcttccggga ggtctccttc tactacagcg aggagaacaa gctgcccgag ccggaggagc
     4921 tggacctgga gccagagaac atggagagcg tccccctgga cccctcggcc tcctcgtcct
     4981 ccctgccact gcccgacaga cactcaggac acaaggccga gaacggcccc ggccctgggg
     5041 tgctggtcct ccgcgccagc ttcgacgaga gacagcctta cgcccacatg aacgggggcc
     5101 gcaagaacga gcgggccttg ccgctgcccc agtcttcgac ctgctgatcc ttggatcctg
     5161 aatctgtgca aacagtaacg tgtgcgcacg cgcagcgggg tgggggggga gagagagttt
     5221 taacaatcca ttcacaagcc tcctgtacct cagtggatct tcagaactgc ccttgctgcc
     5281 cgcgggagac agcttctctg cagtaaaaca catttgggat gttccttttt tcaatatgca
     5341 agcagctttt tattccctgc ccaaaccctt aactgacatg ggcctttaag aaccttaatg
     5401 acaacactta atagcaacag agcacttgag aaccagtctc ctcactctgt ccctgtcctt
     5461 ccctgttctc cctttctctc tcctctctgc ttcataacgg aaaaataatt gccacaagtc
     5521 cagctgggaa gcccttttta tcagtttgag gaagtggctg tccctgtggc cccatccaac
     5581 cactgtacac acccgcctga caccgtgggt cattacaaaa aaacacgtgg agatggaaat
     5641 ttttaccttt atctttcacc tttctaggga catgaaattt acaaagggcc atcgttcatc
     5701 caaggctgtt accattttaa cgctgcctaa ttttgccaaa atcctgaact ttctccctca
     5761 tcggcccggc gctgattcct cgtgtccgga ggcatgggtg agcatggcag ctggttgctc
     5821 catttgagag acacgctggc gacacactcc gtccatccga ctgcccctgc tgtgctgctc
     5881 aaggccacag gcacacaggt ctcattgctt ctgactagat tattatttgg gggaactgga
     5941 cacaataggt ctttctctca gtgaaggtgg ggagaagctg aaccggcttc cctgccctgc
     6001 ctccccagcc ccctgcccaa cccccaagaa tctggtggcc atgggccccg aagcagcctg
     6061 gcggacaggc ttggagtcaa ggggccccat gcctgcttct ctcccagccc cagctccccc
     6121 gcccgccccc aaggacacag atgggaaggg gtttccaggg actcagcccc actgttgatg
     6181 caggtttgca aggaaagaaa ttcaaacacc acaacagcag taagaagaaa agcagtcaat
     6241 ggattcaagc attctaagct ttgttgacat tttctctgtt cctaggactt cttcatgggt
     6301 cttacagttc tatgttagac catgaaacat ttgcatacac atcgtcttta atgtcacttt
     6361 tataactttt ttacggttca gatattcatc tatacgtctg tacagaaaaa aaaaagctgc
     6421 tatttttttt gttcttgatc tttgtggatt taatctatga aaaccttcag gtccaccctc
     6481 tcccctttct gctcactcca agaaacttct tatgctttgt actagagtgc gtgactttct
     6541 tcctcttttc ccggtaatgg atacttctat cacataattt gccatgaact gttggatgcc
     6601 tttttataaa tacatccccc atccctgctc ccacctgccc ctttagttgt tttctaaccc
     6661 gtaggctctc tgggcacgag gcagaaagca ggccgggcac ccatcctgag agggccgcgc
     6721 tcctctcccc agcctgccct cacagcattg gagcctgtta cagtgcaaga catgatacaa
     6781 actcaggtca gaaaaacaaa ggttaaatat ttcacacgtc tttgttcagt gtttccactc
     6841 accgtggttg agaagcctca ccctctcttt cccttgcctt tgcttaggtt gtgacacaca
     6901 tatatatata tttttttaat tcttgggtac aacagcagtg ttaaccgcag acactaggca
     6961 tttggattac tatttttctt aatggctatt taatccttcc atcccacgaa aaacagctgc
     7021 tgagtccaag ggagcagcag agcgtggtcc ggcagggcct gttgtggccc tcgccacccc
     7081 cctcaccgga ccgactgacc tgtctttgga accagaacat cccaagggaa ctccttcgca
     7141 ctggcgttga gtgggacccc gggatccagg ctggcccagg gcggcaccct cagggctgtg
     7201 cccgctggag tgctaggtgg aggcagcaca gacgccacgg tggcccaaga gcccctttgc
     7261 ttcttgctgg gggaccaggg ctgtggtgct ggcccacttt ccctcggcca ggaatccagg
     7321 tccttggggc ccaggggtct tgtcttgttt catttttagc acttctcacc agagagatga
     7381 cagcacaaga gttgcttctg ggatagaaat gtttaggagt aagaacaaag ctgggatacg
     7441 gtgattgcta gttgtgactg aagattcaac acagaaaaga aagtttatac ggcttttttg
     7501 ctggtcagca gtttgtccca ctgctttctc tagtctctat cccatagcgt gttcccttta
     7561 aaaaaaaaaa aaaggtatta tatgtaggag ttttctttta atttattttg tgataaatta
     7621 ccagtttcaa tcactgtaga aaagccccat tatgaattta aatttcaagg aaagggtgtg
     7681 tgtgtgtgta tgtgtggggt gtgtgtgtgt gagagtgatg ggacagttct tgattttttg
     7741 ggtttttttt cccccaaaca tttatctacc tcactcttat tttttatatg tgtatataga
     7801 caaaagaata catctcacct ttctcagcac ctgacaatag gccgttgata ctggtaacct
     7861 catccacgcc acaggcgcca cacccaggtg atgcaggggg aagccaggct gtattccggg
     7921 gtcaaagcaa cactaactca cctctctgct catttcagac agcttgcctt tttctgagat
     7981 gtcctgtttt gtgttgcttt ttttgttttg ttttctatct tggtttccac caaggtgtta
     8041 gatttctcct cctcctagcc aggtggccct gtgaggccaa cgagggcacc agagcacacc
     8101 tgggggagcc accaggctgt ccctggctgg ttgtctttgg aacaaactgc ttctgtgcag
     8161 atggaatgac caacacattt cgtccttaag agagcagtgg ttcctcaggt tctgaggaga
     8221 ggaaggtgtc caggcagcac catctctgtg cgaatcccca gggtaaaggc gtggggcatt
     8281 gggtttgctc cccttgctgc tgctccatcc ctgcaggagg ctcgcgctga ggcaggaccg
     8341 tgcggccatg gctgctgcat tcattgagca caaaggtgca gctgcagcag cagctggaga
     8401 gcaagagtca cccagcctgt gcgccagaat gcagaggctc ctgacctcac agccagtccc
     8461 tgatagaaca cacgcaggag cagagtcccc tccccctcca ggctgccctc tcaacttctc
     8521 cctcacctcc ttccctaggg gtagacagag atgtaccaaa ccttccggct ggaaagccca
     8581 gtggccggcg ccgaggctcg tggcgtcacg ccccccccgc cagggctgta cctccgtctc
     8641 cctggtcctg ctgctcacag gacagacggc tcgctcccct cttccagcag ctgctcttac
     8701 aggcactgat gatttcgctg ggaagtgtgg cgggcagctt tgcctaagcg tggatggctc
     8761 ctcggcaatt ccagcctaag tgaaggcgct caggagcctc ctgctggaac gcgacccatc
     8821 tctcccagga ccccggggat cttaaggtca ttgagaaata ctgttggatc agggttttgt
     8881 tcttccacac tgtaggtgac cccttggaat aacggcctct cctctcgtgc acatacctac
     8941 cggtttccac aactggattt ctacagatca ttcagctggt tataagggtt ttgtttaaac
     9001 tgtccgagtt actgatgtca ttttgttttt gttttatgta ggtagctttt aagtagaaaa
     9061 cactaacagt gtagtgccca tcatagcaaa tgcttcagaa acacctcaat aaaagagaaa
     9121 acttggcttg tgtgatggtg cagtcacttt actggaccaa cccacccacc ttgactatac
     9181 caaggcatca tctatccaca gttctagcct aacttcatgc tgatttctct gcctcttgat
     9241 ttttctctgt gtgttccaaa taatcttaag ctgagttgtg gcattttcca tgcaacctcc
     9301 ttctgccagc agctcacact gcttgaagtc atatgaacca ctgaggcaca tcatggaatt
     9361 gatgtgagca ttaagacgtt ctcccacaca gcccttccct gaggcagcag gagctggtgt
     9421 gtactggaga cactgttgaa cttgatcaag acccagacca ccccaggtct ccttcgtggg
     9481 atgtcatgac gtttgacata cctttggaac gagcctcctc cttggaagat ggaagaccgt
     9541 gttcgtggcc gacctggcct ctcctggcct gtttcttaag atgcggagtc acatttcaat
     9601 ggtacgaaaa gtggcttcgt aaaatagaag agcagtcact gtggaactac caaatggcga
     9661 gatgctcggt gcacattggg gtgctttggg ataaaagatt tatgagccaa ctattctctg
     9721 gcaccagatt ctaggccagt ttgttccact gaagcttttc ccacagcagt ccacctctgc
     9781 aggctggcag ccgaatggct tgccagtggc tctgtggcaa gatcacactg agatcgatgg
     9841 gtgagaaggc taggatgctt gtctagtgtt cttagctgtc acgttggctc cttccagggt
     9901 ggccagacgg tgttggccac tcccttctaa aacacaggcg ccctcctggt gacagtgacc
     9961 cgccgtggta tgccttggcc cattccagca gtcccagtta tgcatttcaa gtttggggtt
    10021 tgttcttttc gttaatgttc ctctgtgttg tcagctgtct tcatttcctg ggctaagcag
    10081 cattgggaga tgtggaccag agatccactc cttaagaacc agtggcgaaa gacactttct
    10141 ttcttcactc tgaagtagct ggtggtacaa atgagaactt caagagagga tgttatttag
    10201 actgaacctc tgttgccaga gatgctgaag atacagacct tggacaggtc agagggtttc
    10261 atttttggcc ttcatcttag atgactggtt gcgtcatttg gagaagtgag tgctccttga
    10321 tggtggaatg accgggtggt gggtacagaa ccattgtcac agggatcctg gcacagagaa
    10381 gagttacgag cagcagggtg cagggcttgg aaggaatgtg ggcaaggttt tgaacttgat
    10441 tgttcttgaa gctatcagac cacatcgagg ctcagcagtc atccgtgggc atttggtttc
    10501 aacaaagaaa cctaacatcc tactctggaa actgatctcg gagttaaggc gaattgttca
    10561 agaacacaaa ctacatcgca ctcgtcagtt gtcagttctg gggcatgact ttagcgtttt
    10621 gtttctgcga gaacataacg atcactcatt tttatgtccc acgtgtgtgt gtccgcatct
    10681 ttctggtcaa cattgtttta actagtcact cattagcgtt ttcaataggg ctcttaagtc
    10741 cagtagatta cgggtagtca gttgacgaag atctggttta caagaactaa ttaaatgttt
    10801 cattgcattt ttgtaagaac agaataattt tataaaatgt ttgtagttta taattgccga
    10861 aaataattta aagacacttt ttttttctct gtgtgtgcaa atgtgtgttt gtgatccatt
    10921 tttttttttt ttttttagga cacctgttta ctagctagct ttacaatatg ccaaaaaagg
    10981 atttctccct gaccccatcc gtggttcacc ctcttttccc cccatgcttt ttgccctagt
    11041 ttataacaaa ggaatgatga tgatttaaaa agtagttctg tatcttcagt atcttggtct
    11101 tccagaaccc tctggttggg aaggggatca ttttttactg gtcatttccc tttggagtgt
    11161 agctacttta acagatggaa agaacctcat tggccatgga aacagccgag gtgttggagc
    11221 ccagcagtgc atggcaccgt tcggcatctg gcttgattgg tctggctgcc gtcattgtca
    11281 gcacagtgcc atggacatgg gaagacttga ctgcacagcc aatggttttc atgatgatta
    11341 cagcatacac agtgatcaca taaacgatga cagctatggg gcacacaggc catttgctta
    11401 catgcctcgt atcatgactg attactgctt tgttagaaca cagaagagac cctattttat
    11461 ttaaggcaga accccgaaga tacgtatttc caatacagaa aagaattttt aataaaaact
    11521 ataacataca caaaaattgg ttttaaagtt gactccactt cctctaactc cagtggattg
    11581 ttggccatgt ctccccaact ccacaatatc tctatcatgg gaaacacctg gggtttttgc
    11641 gctacatagg agaaagatct ggaaactatt tgggttttgt tttcaacttt tcatttggat
    11701 gtttggcgtt gcacacacac atccaccggt ggaagagacg cccggtgaaa acacctgtct
    11761 gctttctaag ccagtgaggt tgaggtgaga ggtttgccag agtttgtcta cctctgggta
    11821 tccctttgtc tgggataaaa aaaatcaaac cagaaggcgg gatggaatgg atgcaccgca
    11881 aataatgcat tttctgagtt ttcttgttaa aaaaaaattt ttttaagtaa gaaaaaaaaa
    11941 ggtaataaca tggccaattt gttacataaa atgactttct gtgtataaat tattcctaaa
    12001 aaatcctgtt tatataaaaa atcagtagat gaaaaaaatt tcaaaatgtt tttgtatatt
    12061 ctgttgtaag aatttattcc tgttattgcg atatactctg gattctttac ataatggaaa
    12121 aaagaaactg tctattttga atggctgaag ctaaggcaac gttagtttct cttactctgc
    12181 ttttttctag taaagtacta catggtttaa gttaaataaa ataattctgt atgca
//
LOCUS       NM_000876              14061 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens insulin like growth factor 2 receptor (IGF2R), mRNA.
ACCESSION   NM_000876
VERSION     NM_000876.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 14061)
  AUTHORS   Kliche J, Garvanska DH, Simonetti L, Badgujar D, Dobritzsch D,
            Nilsson J, Davey NE and Ivarsson Y.
  TITLE     Large-scale phosphomimetic screening identifies phospho-modulated
            motif-based protein interactions
  JOURNAL   Mol Syst Biol 19 (7), e11164 (2023)
   PUBMED   37219487
REFERENCE   2  (bases 1 to 14061)
  AUTHORS   Liu B, Hu Y, Wan L, Wang L, Cheng L, Sun H, Liu Y, Wu D, Zhu J, Hong
            X, Li Y and Zhou C.
  TITLE     Proteomics analysis of cancer tissues identifies IGF2R as a
            potential therapeutic target in laryngeal carcinoma
  JOURNAL   Front Endocrinol (Lausanne) 13, 1031210 (2022)
   PUBMED   36299463
  REMARK    GeneRIF: Proteomics analysis of cancer tissues identifies IGF2R as a
            potential therapeutic target in laryngeal carcinoma. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 14061)
  AUTHORS   Vu TH, Li T and Hoffman AR.
  TITLE     Promoter-restricted histone code, not the differentially methylated
            DNA regions or antisense transcripts, marks the imprinting status of
            IGF2R in human and mouse
  JOURNAL   Hum Mol Genet 13 (19), 2233-2245 (2004)
   PUBMED   15294879
REFERENCE   4  (bases 1 to 14061)
  AUTHORS   De Souza AT, Hankins GR, Washington MK, Orton TC and Jirtle RL.
  TITLE     M6P/IGF2R gene is mutated in human hepatocellular carcinomas with
            loss of heterozygosity
  JOURNAL   Nat Genet 11 (4), 447-449 (1995)
   PUBMED   7493029
REFERENCE   5  (bases 1 to 14061)
  AUTHORS   Xu Y, Goodyer CG, Deal C and Polychronakos C.
  TITLE     Functional polymorphism in the parental imprinting of the human
            IGF2R gene
  JOURNAL   Biochem Biophys Res Commun 197 (2), 747-754 (1993)
   PUBMED   8267611
  REMARK    GeneRIF: Imprinting of IGF2R gene in human is polymorphic, with a
            minority of individuals showing exclusive expression from the
            maternal allele.
REFERENCE   6  (bases 1 to 14061)
  AUTHORS   Ogawa O, McNoe LA, Eccles MR, Morison IM and Reeve AE.
  TITLE     Human insulin-like growth factor type I and type II receptors are
            not imprinted
  JOURNAL   Hum Mol Genet 2 (12), 2163-2165 (1993)
   PUBMED   8111387
REFERENCE   7  (bases 1 to 14061)
  AUTHORS   Kalscheuer VM, Mariman EC, Schepens MT, Rehder H and Ropers HH.
  TITLE     The insulin-like growth factor type-2 receptor gene is imprinted in
            the mouse but not in humans
  JOURNAL   Nat Genet 5 (1), 74-78 (1993)
   PUBMED   8220428
REFERENCE   8  (bases 1 to 14061)
  AUTHORS   Antoniades HN, Galanopoulos T, Neville-Golden J and Maxwell M.
  TITLE     Expression of insulin-like growth factors I and II and their
            receptor mRNAs in primary human astrocytomas and meningiomas; in
            vivo studies using in situ hybridization and immunocytochemistry
  JOURNAL   Int J Cancer 50 (2), 215-222 (1992)
   PUBMED   1370435
REFERENCE   9  (bases 1 to 14061)
  AUTHORS   Oshima A, Nolan CM, Kyle JW, Grubb JH and Sly WS.
  TITLE     The human cation-independent mannose 6-phosphate receptor. Cloning
            and sequence of the full-length cDNA and expression of functional
            receptor in COS cells
  JOURNAL   J Biol Chem 263 (5), 2553-2562 (1988)
   PUBMED   2963003
REFERENCE   10  (bases 1 to 14061)
  AUTHORS   Morgan,D.O., Edman,J.C., Standring,D.N., Fried,V.A., Smith,M.C.,
            Roth,R.A. and Rutter,W.J.
  TITLE     Insulin-like growth factor II receptor as a multifunctional binding
            protein
  JOURNAL   Nature 329 (6137), 301-307 (1987)
   PUBMED   2957598
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: Y00285.1, J03528.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            imprinted gene              :: PMID: 8267611
            MANE Ensembl match          :: ENST00000356956.6/ ENSP00000349437.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL035691.17 and AL353625.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 27, 2020 this sequence version replaced NM_000876.3.
            Summary: This gene encodes a receptor for both insulin-like growth
            factor 2 and mannose 6-phosphate. The binding sites for each ligand
            are located on different segments of the protein. This receptor has
            various functions, including in the intracellular trafficking of
            lysosomal enzymes, the activation of transforming growth factor
            beta, and the degradation of insulin-like growth factor 2. Mutation
            or loss of heterozygosity of this gene has been association with
            risk of hepatocellular carcinoma. The orthologous mouse gene is
            imprinted and shows exclusive expression from the maternal allele;
            however, imprinting of the human gene may be polymorphic, as only a
            minority of individuals showed biased expression from the maternal
            allele (PMID:8267611). [provided by RefSeq, Nov 2015].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..14061
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.3"
     gene            1..14061
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="insulin like growth factor 2 receptor"
                     /db_xref="GeneID:3482"
                     /db_xref="HGNC:HGNC:5467"
                     /db_xref="MIM:147280"
     CDS             166..7641
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="cation-independent mannose-6-phosphate receptor;
                     IGF-II receptor; M6P/IGF2 receptor; CI Man-6-P receptor;
                     300 kDa mannose 6-phosphate receptor; insulin-like growth
                     factor II receptor"
                     /codon_start=1
                     /product="cation-independent mannose-6-phosphate receptor
                     precursor"
                     /protein_id="NP_000867.3"
                     /db_xref="CCDS:CCDS5273.1"
                     /db_xref="GeneID:3482"
                     /db_xref="HGNC:HGNC:5467"
                     /db_xref="MIM:147280"
                     /translation="MGAAAGRSPHLGPAPARRPQRSLLLLQLLLLVAAPGSTQAQAAPF
                     PELCSYTWEAVDTKNNVLYKINICGSVDIVQCGPSSAVCMHDLKTRTYHSVGDSVLRSA
                     TRSLLEFNTTVSCDQQGTNHRVQSSIAFLCGKTLGTPEFVTATECVHYFEWRTTAACKK
                     DIFKANKEVPCYVFDEELRKHDLNPLIKLSGAYLVDDSDPDTSLFINVCRDIDTLRDPG
                     SQLRACPPGTAACLVRGHQAFDVGQPRDGLKLVRKDRLVLSYVREEAGKLDFCDGHSPA
                     VTITFVCPSERREGTIPKLTAKSNCRYEIEWITEYACHRDYLESKTCSLSGEQQDVSID
                     LTPLAQSGGSSYISDGKEYLFYLNVCGETEIQFCNKKQAAVCQVKKSDTSQVKAAGRYH
                     NQTLRYSDGDLTLIYFGGDECSSGFQRMSVINFECNKTAGNDGKGTPVFTGEVDCTYFF
                     TWDTEYACVKEKEDLLCGATDGKKRYDLSALVRHAEPEQNWEAVDGSQTETEKKHFFIN
                     ICHRVLQEGKARGCPEDAAVCAVDKNGSKNLGKFISSPMKEKGNIQLSYSDGDDCGHGK
                     KIKTNITLVCKPGDLESAPVLRTSGEGGCFYEFEWHTAAACVLSKTEGENCTVFDSQAG
                     FSFDLSPLTKKNGAYKVETKKYDFYINVCGPVSVSPCQPDSGACQVAKSDEKTWNLGLS
                     NAKLSYYDGMIQLNYRGGTPYNNERHTPRATLITFLCDRDAGVGFPEYQEEDNSTYNFR
                     WYTSYACPEEPLECVVTDPSTLEQYDLSSLAKSEGGLGGNWYAMDNSGEHVTWRKYYIN
                     VCRPLNPVPGCNRYASACQMKYEKDQGSFTEVVSISNLGMAKTGPVVEDSGSLLLEYVN
                     GSACTTSDGRQTTYTTRIHLVCSRGRLNSHPIFSLNWECVVSFLWNTEAACPIQTTTDT
                     DQACSIRDPNSGFVFNLNPLNSSQGYNVSGIGKIFMFNVCGTMPVCGTILGKPASGCEA
                     ETQTEELKNWKPARPVGIEKSLQLSTEGFITLTYKGPLSAKGTADAFIVRFVCNDDVYS
                     GPLKFLHQDIDSGQGIRNTYFEFETALACVPSPVDCQVTDLAGNEYDLTGLSTVRKPWT
                     AVDTSVDGRKRTFYLSVCNPLPYIPGCQGSAVGSCLVSEGNSWNLGVVQMSPQAAANGS
                     LSIMYVNGDKCGNQRFSTRITFECAQISGSPAFQLQDGCEYVFIWRTVEACPVVRVEGD
                     NCEVKDPRHGNLYDLKPLGLNDTIVSAGEYTYYFRVCGKLSSDVCPTSDKSKVVSSCQE
                     KREPQGFHKVAGLLTQKLTYENGLLKMNFTGGDTCHKVYQRSTAIFFYCDRGTQRPVFL
                     KETSDCSYLFEWRTQYACPPFDLTECSFKDGAGNSFDLSSLSRYSDNWEAITGTGDPEH
                     YLINVCKSLAPQAGTEPCPPEAAACLLGGSKPVNLGRVRDGPQWRDGIIVLKYVDGDLC
                     PDGIRKKSTTIRFTCSESQVNSRPMFISAVEDCEYTFAWPTATACPMKSNEHDDCQVTN
                     PSTGHLFDLSSLSGRAGFTAAYSEKGLVYMSICGENENCPPGVGACFGQTRISVGKANK
                     RLRYVDQVLQLVYKDGSPCPSKSGLSYKSVISFVCRPEARPTNRPMLISLDKQTCTLFF
                     SWHTPLACEQATECSVRNGSSIVDLSPLIHRTGGYEAYDESEDDASDTNPDFYINICQP
                     LNPMHGVPCPAGAAVCKVPIDGPPIDIGRVAGPPILNPIANEIYLNFESSTPCLADKHF
                     NYTSLIAFHCKRGVSMGTPKLLRTSECDFVFEWETPVVCPDEVRMDGCTLTDEQLLYSF
                     NLSSLSTSTFKVTRDSRTYSVGVCTFAVGPEQGGCKDGGVCLLSGTKGASFGRLQSMKL
                     DYRHQDEAVVLSYVNGDRCPPETDDGVPCVFPFIFNGKSYEECIIESRAKLWCSTTADY
                     DRDHEWGFCRHSNSYRTSSIIFKCDEDEDIGRPQVFSEVRGCDVTFEWKTKVVCPPKKL
                     ECKFVQKHKTYDLRLLSSLTGSWSLVHNGVSYYINLCQKIYKGPLGCSERASICRRTTT
                     GDVQVLGLVHTQKLGVIGDKVVVTYSKGYPCGGNKTASSVIELTCTKTVGRPAFKRFDI
                     DSCTYYFSWDSRAACAVKPQEVQMVNGTITNPINGKSFSLGDIYFKLFRASGDMRTNGD
                     NYLYEIQLSSITSSRNPACSGANICQVKPNDQHFSRKVGTSDKTKYYLQDGDLDVVFAS
                     SSKCGKDKTKSVSSTIFFHCDPLVEDGIPEFSHETADCQYLFSWYTSAVCPLGVGFDSE
                     NPGDDGQMHKGLSERSQAVGAVLSLLLVALTCCLLALLLYKKERRETVISKLTTCCRRS
                     SNVSYKYSKVNKEEETDENETEWLMEEIQLPPPRQGKEGQENGHITTKSVKALSSLHGD
                     DQDSEDEVLTIPEVKVHSGRGAGAESSHPVRNAQSNALQEREDDRVGLVRGEKARKGKS
                     SSAQQKTVSSTKLVSFHDDSDEDLLHI"
     sig_peptide     166..285
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     286..7638
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /product="Cation-independent mannose-6-phosphate receptor.
                     /id=PRO_0000019229"
                     /note="propagated from UniProtKB/Swiss-Prot (P11717.3)"
     misc_feature    499..501
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519; propagated from
                     UniProtKB/Swiss-Prot (P11717.3); glycosylation site"
     misc_feature    1363..1365
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11717.3); glycosylation site"
     misc_feature    1468..1470
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11717.3); glycosylation site"
     misc_feature    1792..1794
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11717.3); glycosylation site"
     misc_feature    1906..1908
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519; propagated from
                     UniProtKB/Swiss-Prot (P11717.3); glycosylation site"
     misc_feature    2041..2043
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P11717.3); glycosylation site"
     misc_feature    2404..2406
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P11717.3); glycosylation site"
     misc_feature    2776..2778
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11717.3); glycosylation site"
     misc_feature    3016..3018
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11717.3); glycosylation site"
     misc_feature    3034..3036
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11717.3); glycosylation site"
     misc_feature    3655..3657
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11717.3); glycosylation site"
     misc_feature    3901..3903
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519; propagated from
                     UniProtKB/Swiss-Prot (P11717.3); glycosylation site"
     misc_feature    4099..4101
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11717.3); glycosylation site"
     misc_feature    5131..5133
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11717.3); glycosylation site"
     misc_feature    5434..5436
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11717.3); glycosylation site"
     misc_feature    5611..5613
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11717.3); glycosylation site"
     misc_feature    6418..6420
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11717.3); glycosylation site"
     misc_feature    6571..6573
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P11717.3); glycosylation site"
     misc_feature    7078..7146
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="propagated from UniProtKB/Swiss-Prot (P11717.3);
                     transmembrane region"
     misc_feature    7219..7221
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P11717.3); acetylation site"
     misc_feature    7390..7392
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P11717.3);
                     phosphorylation site"
     misc_feature    7435..7638
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="propagated from UniProtKB/Swiss-Prot (P11717.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    7438..7440
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q07113; propagated from
                     UniProtKB/Swiss-Prot (P11717.3); methylation site"
     misc_feature    7600..7602
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P11717.3);
                     phosphorylation site"
     misc_feature    7615..7617
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:17487921, ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18318008, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19367720, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P11717.3); phosphorylation site"
     regulatory      9089..9094
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="hexamer: AATAAA"
     polyA_site      9108
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="major polyA site"
     regulatory      9414..9419
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="hexamer: AATAAA"
     polyA_site      9440
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
     regulatory      13972..13977
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="hexamer: AATAAA"
     polyA_site      13992
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
     regulatory      14042..14047
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
                     /note="hexamer: AATACA"
     polyA_site      14061
                     /gene="IGF2R"
                     /gene_synonym="CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR
                     300; MPR1; MPR300; MPRI"
ORIGIN
        1 gccgctgtcg ctgtcgccga gcccagtcga gccgcgctca cctcgggctc ccgctccgtc
       61 tccacctccg cctttgccct ggcggcgcga ccccgtcccg ggcgcggccc ccagcagtcg
      121 cgcgccgtta gcctcgcgcc cgccgcgcag tccgggcccg gcgcgatggg ggccgccgcc
      181 ggccggagcc cccacctggg gcccgcgccc gcccgccgcc cgcagcgctc tctgctcctg
      241 ctgcagctgc tgctgctcgt cgctgccccg gggtccacgc aggcccaggc cgccccgttc
      301 cccgagctgt gcagttatac atgggaagct gttgatacca aaaataatgt actttataaa
      361 atcaacatct gtggaagtgt ggatattgtc cagtgcgggc catcaagtgc tgtttgtatg
      421 cacgacttga agacacgcac ttatcattca gtgggtgact ctgttttgag aagtgcaacc
      481 agatctctcc tggaattcaa cacaacagtg agctgtgacc agcaaggcac aaatcacaga
      541 gtccagagca gcattgcctt cctgtgtggg aaaaccctgg gaactcctga atttgtaact
      601 gcaacagaat gtgtgcacta ctttgagtgg aggaccactg cagcctgcaa gaaagacata
      661 tttaaagcaa ataaggaggt gccatgctat gtgtttgatg aagagttgag gaagcatgat
      721 ctcaatcctc tgatcaagct tagtggtgcc tacttggtgg atgactccga tccggacact
      781 tctctattca tcaatgtttg tagagacata gacacactac gagacccagg ttcacagctg
      841 cgggcctgtc cccccggcac tgccgcctgc ctggtaagag gacaccaggc gtttgatgtt
      901 ggccagcccc gggacggact gaagctggtg cgcaaggaca ggcttgtcct gagttacgtg
      961 agggaagagg caggaaagct agacttttgt gatggtcaca gccctgcggt gactattaca
     1021 tttgtttgcc cgtcggagcg gagagagggc accattccca aactcacagc taaatccaac
     1081 tgccgctatg aaattgagtg gattactgag tatgcctgcc acagagatta cctggaaagt
     1141 aaaacttgtt ctctgagcgg cgagcagcag gatgtctcca tagacctcac accacttgcc
     1201 cagagcggag gttcatccta tatttcagat ggaaaagaat atttgtttta tttgaatgtc
     1261 tgtggagaaa ctgaaataca gttctgtaat aaaaaacaag ctgcagtttg ccaagtgaaa
     1321 aagagcgata cctctcaagt caaagcagca ggaagatacc acaatcagac cctccgatat
     1381 tcggatggag acctcacctt gatatatttt ggaggtgatg aatgcagctc agggtttcag
     1441 cggatgagcg tcataaactt tgagtgcaat aaaaccgcag gtaacgatgg gaaaggaact
     1501 cctgtattca caggggaggt tgactgcacc tacttcttca catgggacac ggaatacgcc
     1561 tgtgttaagg agaaggaaga cctcctctgc ggtgccaccg acgggaagaa gcgctatgac
     1621 ctgtccgcgc tggtccgcca tgcagaacca gagcagaatt gggaagctgt ggatggcagt
     1681 cagacggaaa cagagaagaa gcattttttc attaatattt gtcacagagt gctgcaggaa
     1741 ggcaaggcac gagggtgtcc cgaggacgcg gcagtgtgtg cagtggataa aaatggaagt
     1801 aaaaatctgg gaaaatttat ttcctctccc atgaaagaga aaggaaacat tcaactctct
     1861 tattcagatg gtgatgattg tggtcatggc aagaaaatta aaactaatat cacacttgta
     1921 tgcaagccag gtgatctgga aagtgcacca gtgttgagaa cttctgggga aggcggttgc
     1981 ttttatgagt ttgagtggca cacagctgcg gcctgtgtgc tgtctaagac agaaggggag
     2041 aactgcacgg tctttgactc ccaggcaggg ttttcttttg acttatcacc tctcacaaag
     2101 aaaaatggtg cctataaagt tgagacaaag aagtatgact tttatataaa tgtgtgtggc
     2161 ccggtgtctg tgagcccctg tcagccagac tcaggagcct gccaggtggc aaaaagtgat
     2221 gagaagactt ggaacttggg tctgagtaat gcgaagcttt catattatga tgggatgatc
     2281 caactgaact acagaggcgg cacaccctat aacaatgaaa gacacacacc gagagctacg
     2341 ctcatcacct ttctctgtga tcgagacgcg ggagtgggct tccctgaata tcaggaagag
     2401 gataactcca cctacaactt ccggtggtac accagctatg cctgcccgga ggagcccctg
     2461 gaatgcgtag tgaccgaccc ctccacgctg gagcagtacg acctctccag tctggcaaaa
     2521 tctgaaggtg gccttggagg aaactggtat gccatggaca actcagggga acatgtcacg
     2581 tggaggaaat actacattaa cgtgtgtcgg cctctgaatc cagtgccggg ctgcaaccga
     2641 tatgcatcgg cttgccagat gaagtatgaa aaagatcagg gctccttcac tgaagtggtt
     2701 tccatcagta acttgggaat ggcaaagacc ggcccggtgg ttgaggacag cggcagcctc
     2761 cttctggaat acgtgaatgg gtcggcctgc accaccagcg atggcagaca gaccacatat
     2821 accacgagga tccatctcgt ctgctccagg ggcaggctga acagccaccc catcttttct
     2881 ctcaactggg agtgtgtggt cagtttcctg tggaacacag aggctgcctg tcccattcag
     2941 acaacgacgg atacagacca ggcttgctct ataagggatc ccaacagtgg atttgtgttt
     3001 aatcttaatc cgctaaacag ttcgcaagga tataacgtct ctggcattgg gaagattttt
     3061 atgtttaatg tctgcggcac aatgcctgtc tgtgggacca tcctgggaaa acctgcttct
     3121 ggctgtgagg cagaaaccca aactgaagag ctcaagaatt ggaagccagc aaggccagtc
     3181 ggaattgaga aaagcctcca gctgtccaca gagggcttca tcactctgac ctacaaaggg
     3241 cctctctctg ccaaaggtac cgctgatgct tttatcgtcc gctttgtttg caatgatgat
     3301 gtttactcag ggcccctcaa attcctgcat caagatatcg actctgggca agggatccga
     3361 aacacttact ttgagtttga aaccgcgttg gcctgtgttc cttctccagt ggactgccaa
     3421 gtcaccgacc tggctggaaa tgagtacgac ctgactggcc taagcacagt caggaaacct
     3481 tggacggctg ttgacacctc tgtcgatggg agaaagagga ctttctattt gagcgtttgc
     3541 aatcctctcc cttacattcc tggatgccag ggcagcgcag tggggtcttg cttagtgtca
     3601 gaaggcaata gctggaatct gggtgtggtg cagatgagtc cccaagccgc ggcgaatgga
     3661 tctttgagca tcatgtatgt caacggtgac aagtgtggga accagcgctt ctccaccagg
     3721 atcacgtttg agtgtgctca gatatcgggc tcaccagcat ttcagcttca ggatggttgt
     3781 gagtacgtgt ttatctggag aactgtggaa gcctgtcccg ttgtcagagt ggaaggggac
     3841 aactgtgagg tgaaagaccc aaggcatggc aacttgtatg acctgaagcc cctgggcctc
     3901 aacgacacca tcgtgagcgc tggcgaatac acttattact tccgggtctg tgggaagctt
     3961 tcctcagacg tctgccccac aagtgacaag tccaaggtgg tctcctcatg tcaggaaaag
     4021 cgggaaccgc agggatttca caaagtggca ggtctcctga ctcagaagct aacttatgaa
     4081 aatggcttgt taaaaatgaa cttcacgggg ggggacactt gccataaggt ttatcagcgc
     4141 tccacagcca tcttcttcta ctgtgaccgc ggcacccagc ggccagtatt tctaaaggag
     4201 acttcagatt gttcctactt gtttgagtgg cgaacgcagt atgcctgccc acctttcgat
     4261 ctgactgaat gttcattcaa agatggggct ggcaactcct tcgacctctc gtccctgtca
     4321 aggtacagtg acaactggga agccatcact gggacggggg acccggagca ctacctcatc
     4381 aatgtctgca agtctctggc cccgcaggct ggcactgagc cgtgccctcc agaagcagcc
     4441 gcgtgtctgc tgggtggctc caagcccgtg aacctcggca gggtaaggga cggacctcag
     4501 tggagagatg gcataattgt cctgaaatac gttgatggcg acttatgtcc agatgggatt
     4561 cggaaaaagt caaccaccat ccgattcacc tgcagcgaga gccaagtgaa ctccaggccc
     4621 atgttcatca gcgccgtgga ggactgtgag tacacctttg cctggcccac agccacagcc
     4681 tgtcccatga agagcaacga gcatgatgac tgccaggtca ccaacccaag cacaggacac
     4741 ctgtttgatc tgagctcctt aagtggcagg gcgggattca cagctgctta cagcgagaag
     4801 gggttggttt acatgagcat ctgtggggag aatgaaaact gccctcctgg cgtgggggcc
     4861 tgctttggac agaccaggat tagcgtgggc aaggccaaca agaggctgag atacgtggac
     4921 caggtcctgc agctggtgta caaggatggg tccccttgtc cctccaaatc cggcctgagc
     4981 tataagagtg tgatcagttt cgtgtgcagg cctgaggcca ggccaaccaa taggcccatg
     5041 ctcatctccc tggacaagca gacatgcact ctcttcttct cctggcacac gccgctggcc
     5101 tgcgagcaag cgaccgaatg ttccgtgagg aatggaagct ctattgttga cttgtctccc
     5161 cttattcatc gcactggtgg ttatgaggct tatgatgaga gtgaggatga tgcctccgat
     5221 accaaccctg atttctacat caatatttgt cagccactaa atcccatgca cggagtgccc
     5281 tgtcctgccg gagccgctgt gtgcaaagtt cctattgatg gtccccccat agatatcggc
     5341 cgggtagcag gaccaccaat actcaatcca atagcaaatg agatttactt gaattttgaa
     5401 agcagtactc cttgcttagc ggacaagcat ttcaactaca cctcgctcat cgcgtttcac
     5461 tgtaagagag gtgtgagcat gggaacgcct aagctgttaa ggaccagcga gtgcgacttt
     5521 gtgttcgaat gggagactcc tgtcgtctgt cctgatgaag tgaggatgga tggctgtacc
     5581 ctgacagatg agcagctcct ctacagcttc aacttgtcca gcctttccac gagcaccttt
     5641 aaggtgactc gcgactcgcg cacctacagc gttggggtgt gcacctttgc agtcgggcca
     5701 gaacaaggag gctgtaagga cggaggagtc tgtctgctct caggcaccaa gggggcatcc
     5761 tttggacggc tgcaatcaat gaaactggat tacaggcacc aggatgaagc ggtcgtttta
     5821 agttacgtga atggtgatcg ttgccctcca gaaaccgatg acggcgtccc ctgtgtcttc
     5881 cccttcatat tcaatgggaa gagctacgag gagtgcatca tagagagcag ggcgaagctg
     5941 tggtgtagca caactgcgga ctacgacaga gaccacgagt ggggcttctg cagacactca
     6001 aacagctacc ggacatccag catcatattt aagtgtgatg aagatgagga cattgggagg
     6061 ccacaagtct tcagtgaagt gcgtgggtgt gatgtgacat ttgagtggaa aacaaaagtt
     6121 gtctgccctc caaagaagtt ggagtgcaaa ttcgtccaga aacacaaaac ctacgacctg
     6181 cggctgctct cctctctcac cgggtcctgg tccctcgtcc acaacggagt ctcgtactat
     6241 ataaatctgt gccagaaaat atataaaggg cccctgggct gctctgaaag ggccagcatt
     6301 tgcagaagga ccacaactgg tgacgtccag gtcctgggac tcgttcacac gcagaagctg
     6361 ggtgtcatag gtgacaaagt tgttgtcacg tactccaaag gttatccgtg tggtggaaat
     6421 aagaccgcat cctccgtgat agaattgacc tgtacaaaga cggtgggcag acctgcattc
     6481 aagaggtttg atatcgacag ctgcacttac tacttcagct gggactcccg ggctgcctgc
     6541 gccgtgaagc ctcaggaggt gcagatggtg aatgggacca tcaccaaccc tataaatggc
     6601 aagagcttca gcctcggaga tatttatttt aagctgttca gagcctctgg ggacatgagg
     6661 accaatgggg acaactacct gtatgagatc caactttcct ccatcacaag ctccagaaac
     6721 ccggcgtgct ctggagccaa catatgccag gtgaagccca acgatcagca cttcagtcgg
     6781 aaagttggaa cctctgacaa gaccaagtac taccttcaag acggcgatct cgatgtcgtg
     6841 tttgcctctt cctctaagtg cggaaaggat aagaccaagt ctgtttcttc caccatcttc
     6901 ttccactgtg accctctggt ggaggacggg atccccgagt tcagtcacga gactgccgac
     6961 tgccagtacc tcttctcttg gtacacctca gccgtgtgtc ctctgggggt gggctttgac
     7021 agcgagaatc ccggggacga cgggcagatg cacaaggggc tgtcagaacg gagccaggca
     7081 gtcggcgcgg tgctcagcct gctgctggtg gcgctcacct gctgcctgct ggccctgttg
     7141 ctctacaaga aggagaggag ggaaacagtg ataagtaagc tgaccacttg ctgtaggaga
     7201 agttccaacg tgtcctacaa atactcaaag gtgaataagg aagaagagac agatgagaat
     7261 gaaacagagt ggctgatgga agagatccag ctgcctcctc cacggcaggg aaaggaaggg
     7321 caggagaacg gccatattac caccaagtca gtgaaagccc tcagctccct gcatggggat
     7381 gaccaggaca gtgaggatga ggttctgacc atcccagagg tgaaagttca ctcgggcagg
     7441 ggagctgggg cagagagctc ccacccagtg agaaacgcac agagcaatgc ccttcaggag
     7501 cgtgaggacg atagggtggg gctggtcagg ggtgagaagg cgaggaaagg gaagtccagc
     7561 tctgcacagc agaagacagt gagctccacc aagctggtgt ccttccatga cgacagcgac
     7621 gaggacctct tacacatctg actccgcagt gcctgcaggg gagcacggag ccgcgggaca
     7681 gccaagcacc tccaaccaaa taagacttcc actcgatgat gcttctataa ttttgccttt
     7741 aacagaaact ttcaaaaggg aagagttttt gtgatggggg agagggtgaa ggaggtcagg
     7801 ccccactcct tcctgattgt ttacagtcat tggaataagg catggctcag atcggccaca
     7861 gggcggtacc ttgtgcccag ggttttgccc caagtcctca tttaaaagca taaggccgga
     7921 cgcatctcaa aacagagggc tgcattcgaa gaaacccttg ctgctttagt cccgataggg
     7981 tatttgaccc cgatatattt tagcatttta attctctccc cctatttatt gactttgaca
     8041 attactcagg tttgagaaaa aggaaaaaaa aacagccacc gtttcttcct gccagcaggg
     8101 gtgtgatgta ccagtttgtc catcttgaga tggtgaggct gtcagtgtat ggggcagctt
     8161 ccggcgggat gttgaactgg tcattaatgt gtcccctgag ttggagctca ttctgtctct
     8221 tttctctttt gctttctgtt tcttaagggc acacacacgt gcgtgcgagc acacacacac
     8281 atacgtgcac agggtccccg agtgcctagg ttttggagag tttgcctgtt ctatgccttt
     8341 agtcaggaat ggctgcacct ttttgcatga tatcttcaag cctgggcgta cagagcacat
     8401 ttgtcagtat ttttgccggc tggtgaattc aaacaacctg cccaaagatt gatttgtgtg
     8461 tttgtgtgtg tgtgtgtgtg tgtgtgtgtg tgtgtgagtg gagttgaggt gtcagagaaa
     8521 atgaattttt tccagatttg gggtataggt ctcatctctt caggttctca tgataccacc
     8581 tttactgtgc ttattttttt aagaaaaaag tgttgatcaa ccattcgacc tataagaagc
     8641 cttaatttgc acagtgtgtg acttacagaa actgcatgaa aaatcatggg ccagagcctc
     8701 ggccctagca ttgcacttgg cctcatgctg gagggaggct gggcgggtac agcgcggagg
     8761 aggagggagg ccaggcgggc atggcgtgga ggaggaggga ggccgggcgg tcacagcatg
     8821 gaggaggagg gaggcgctgc tggtgttctt attctggcgg cagcgccttt cctgccatgt
     8881 ttagtgaatg acttttctcg cattgtagaa ttgtatatag actctggtgt tctattgctg
     8941 agaagcaaac cgccctgcag catccctcag cctgtaccgg tttggctggc ttgtttgatt
     9001 tcaacatgag tgtatttttt aaaattgatt tttctcttca tttttttttc aatcaacttt
     9061 actgtaatat aaagtattca acaatttcaa taaaagataa attattaatt gggtgttacc
     9121 attttttcct tgatagtgag acgttcccga gcgagttacc catctgcctg cctgtctttt
     9181 ctttctgtta agtgactgaa tttgggtttt aactctggtg ttctcgttga ccctttatga
     9241 ggcagcactt tcatttttct ccagagtctc ctggtcgtag gtgttaactt tgggtccaat
     9301 ctgccttccc ttggctcttt ctagatccga tttctttacc ttctccaggc caacctcggg
     9361 gtgtggtcct gttcatcaaa acaatgaaca tggagtttag agtccagtga gtcaataaag
     9421 cttttttttg tgcaacctga tctaacatgg agatgttttc tcttgagtaa actcactgag
     9481 ttttccatct taaattactc agcagtgact gagagctacc tgcatggaag caggaagtta
     9541 ctccagtgtt ataaacaaac ttcttagact caacatccta ttctccatcc cttttttttt
     9601 cctgtagagt ccaaaaacct caaccgtctc atttttaaat tatccaattg gagttacctt
     9661 tttaaaaaag ttattcttaa ggactttcca atacctctcc tgaggaagac atgtcaggtc
     9721 ttctaaaagt ttacattatg accaaagaaa gatgctggtc ctcaggcatt ctacccaggg
     9781 ggctgttctc caggccattc ccacctcctg ctaagaccat ggggagccct ctctgtaagg
     9841 aggggcatat gcagggacct gcccatcccc ttggtaagct ggatggcaaa aaggcatgtt
     9901 gtctgcacca ctggctgcct gctaatgtcg ctgtcagtgg ggaaggagaa gtgacaacac
     9961 gtttgagtgc atttgctttg actcttagaa acccaagcct ctgaaaaaag agtaactact
    10021 tgccagctgt tgttacagat gatattttta ggaaaacatc ccgtgacagc aaatcagaat
    10081 tggactcttt ttcagagaaa tgattttatt gatggagtac aacctgggta tttagcttcc
    10141 tttcaacaaa attttttgtg cccctttctt gagactgtcc atgaatgaca gagacataga
    10201 ataagaactg gggtgctaaa gatggaatag gcaaacccca caccaaggaa atccacagtg
    10261 aagtggaaat ctggttctta tgaacatttt aagagcatct gaagcctgta cttcaccaac
    10321 cctaaaataa tacgtaacac gagatgattc ctcaggaagg aacatataga catacagaca
    10381 ggagacaaca tatagacatt agaacttaca ggacaaagaa ctctttttcc ctgaatcatt
    10441 tgagatgaag tttcttccca tcaccaggca ttcctacaaa caaggacctt cacacgacta
    10501 agatgccacc tggtgattaa agaacacttt gggctggtcc gatccattgt acaagttaaa
    10561 gcactgatgg gtacacaggt cttacccctg ttggcgatcg ggtcacaagg agccagtgtg
    10621 tgtgtcacca ggaggttgta tggacgagac tggatttctg gaaatatcct ttactgactc
    10681 tgaagaatcc catggctcag ggaggtacac tcatgtcctt tcttacttct ccggttccac
    10741 tctgttgact agtagttggc ctcttgagcc atacttgctg tcagttctgg acattgttct
    10801 gtgagaatgg ggtcaacggg cagtcgtggt gcaggtgagc ttgtgtgcaa ggcggcaaga
    10861 tagccacatt gagttgggga cagtatggcc tgggggtgtt ggataggtaa ggcagaagca
    10921 agcccagaac ttggagcctg ttgtgactgt cacagtaagg agtttgaagt cctgaaagca
    10981 gttgagagct gtaggagggc cagattgggc ttttgagcaa gatagtctag atgaaagtaa
    11041 agagatggag acgcttcagc aaccagatgg gaggttgggc atgggagctg tggctgtgct
    11101 gagctgagaa gcctcagact gcctgcgagg ctctctctgg gaggaagtca ggtctttctt
    11161 tccttcgttt ccttcctttc attcctttcc tttccttcct ttttcctctt tctttctttc
    11221 cttttctctc tctctctttt tctttctctc tttctttcga gatggagtct cgctctgttg
    11281 ccaggctgga gtgcagtggc atgatctcgg ctcactgcaa tctctgcctc ccgggttcaa
    11341 gggattctcc tgcctcagcc tccctagtag ctgggattaa aggcacgcac tgccacgccc
    11401 ggctaatttt tgtattttta atagcgacag ggtttcaccg tgttggccag gatggtctcg
    11461 atctcctgac ctcatgatcc acctgcctcg gcctccgaaa gtgctgggat tacaggcgtg
    11521 agccaccgtg cccagccagg tctttttctt aaagagggac agactgaagg taggctgtga
    11581 atggtcagtt atttgtattt ctttaccttt tatgctatct tgtagtttga ccagtttgca
    11641 aaacaaattg aataaaaagt aattgataat gttgttttga tgctcagtgt ttgagggaaa
    11701 cacaatctag tgaatggggt tattggttgt cacacctggg agagtgaaaa tgaggggctc
    11761 acaacccagg tgaggtcatc tggtgccact cagccccatc ccagagaaag cagccttggg
    11821 atgctggcct cggtgacaac caagaagtga tggtgggttg ctagagacag ggtggagcac
    11881 agagccctgg aaggaagcag gaagtcaggt tcaagaaagg acttgtgacc tcacccttgg
    11941 cttcagggtt ttatttttct ttcttttaaa acattttgag acaacatgta gacattcaaa
    12001 cttacagaac aaagaactat tttttccctg aatcatttga gactaagttc cctcctatca
    12061 ccagacattt ctacaaatga ggaccttcac aggactaagg tgccaccatc agaaccacaa
    12121 tatgtgggga cggtactgcc agctaagcct tagtgctgtt tcggtgttga cagctgtcac
    12181 aatgatgccc ttttcagtag aggagcctgt gatggtcacg tgttgcaggt gatcattgtg
    12241 ccatttggtt tacttctgtc tggaaagttt ctcctttctg taacctccat gaccttgaca
    12301 catgaggtca ctcttctcac ccgccccacc tctgggaggg tgcctgattt gccctgcccc
    12361 acccagcggc tttaggactc agctcttcag gaacaattag ggagagggcc cttgggtcta
    12421 actgcaaaat catacttgaa ctagaaaatc ccgttggcat aggtatggat tgtcatatag
    12481 aaacattttt cgcagtgtgc cccgtggaac acttgttctg tatgttgtta acagatgttt
    12541 tgcaaaaaat gaaaaggacc tgagctctaa taagtttggg aaatgctgaa ttgaagtgaa
    12601 acagcttttc ttggtgtgag acctttcaga gtctttaaag gagagttgct gaccacacgt
    12661 gaaatcacaa tagaaaatgg ccagcaggcc tccaggtagg cagcaattcc tagacatttg
    12721 cctgtgttcc ctgggggagc tggtggcctg tgaccatcca ctgggaaatt cccttctgtg
    12781 gcgaggttct gttgttttcc agaggctccc acggagcatg ctgggtgggt ggtctgtatg
    12841 agaccacacc gttgatgagc agtgaggccc aaacaggtat atcaaaaaat gctcagcatc
    12901 gctgatcatc agggaaatgc acatcataaa cacagtgaga cgttgcctca cacctgccag
    12961 aatggctact gtcagacgaa agacaacaag tgtgggtgag gatgtggaga aaagcgaaca
    13021 cttgtccacc tttggtgaga atgtaaattg gtatagccat tatggaaaac aggaagttcc
    13081 tgaaaaaatt aagaacagct accaggaatc ccacatctgg gtgtatatcc aaaagaaatg
    13141 aagtcagtac cttgaagaga tctctgcagc ccctgttcat tgcagcatta ttcacaatag
    13201 ccaagatagg gaaaaagcct cagtgtctac tgacaaataa agatggatca agaaaatgca
    13261 tgtatgtata cacacacaca gtggaatacc aagtcttgca gaagaaggaa atcctgtcat
    13321 ttgtgacaac atggatgagc tgagagaaca ttatgctaag tgaaataagc cagacacaga
    13381 aagaaaaata ccagatgatc tcacttatat gtggaatcta aaaaggttgg actcagaagc
    13441 agagagtgga atggtggtta ccaaaggcca gagggtgcag gaagtgagca gatgttggtg
    13501 aaagggtgca gaggttcagc tatgcaacat gaatgaattc tggagatcca ctgtgcagca
    13561 tggtgactat gatactgctt tgtgtattta aaattttcag agagtagatc ttgtgttctt
    13621 tcccctctcc aaataaaagg aaattatttg aggtgatgga tatgtttaac tagcttgact
    13681 ggggcaatga ttttgtaatg ataagtatct caaaacatca tgttgtacaa cataagtata
    13741 caattgaccc ttgaacaata caggtttgaa ctctgtgggt ccacttacat gcggtttttt
    13801 ttttctgtaa aagttacacc cgatgcgtca gccccttctt ctacctcttc cacctctggc
    13861 acccttggca cagcaagacc aaccccccac ttcctcctcc tcctcctcag cctactcagg
    13921 gtaaagacaa ggatgaagac ctttatgatg atccacttcc acttaatata taataaatat
    13981 attttctcct catgattttc ttaaaacttt ttctgtattt tattgtaaga atacagtata
    14041 taatacatac aacatcgaaa a
//
LOCUS       NM_000877               5183 bp    mRNA    linear   PRI 05-AUG-2023
DEFINITION  Homo sapiens interleukin 1 receptor type 1 (IL1R1), transcript
            variant 1, mRNA.
ACCESSION   NM_000877
VERSION     NM_000877.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5183)
  AUTHORS   Budhiparama NC, Lumban-Gaol I, Sudoyo H, Magetsari R and Wibawa T.
  TITLE     The role of genetic polymorphisms of interleukin-1 (IL-1R1 and
            IL-1RN) in primary knee osteoarthritis in Indonesia
  JOURNAL   Sci Rep 13 (1), 7967 (2023)
   PUBMED   37198429
  REMARK    GeneRIF: The role of genetic polymorphisms of interleukin-1 (IL-1R1
            and IL-1RN) in primary knee osteoarthritis in Indonesia. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 5183)
  AUTHORS   Jia X, Toda K, He L, Miao D, Yamada S, Yu L and Kodama K.
  TITLE     Expression-based Genome-wide Association Study Links OPN and IL1-RA
            With Newly Diagnosed Type 1 Diabetes in Children
  JOURNAL   J Clin Endocrinol Metab 107 (7), 1825-1832 (2022)
   PUBMED   35460250
  REMARK    GeneRIF: Expression-based Genome-wide Association Study Links OPN
            and IL1-RA With Newly Diagnosed Type 1 Diabetes in Children.
REFERENCE   3  (bases 1 to 5183)
  AUTHORS   Umemura T, Fujinaga Y, Ashihara N, Ozawa M, Kuraishi Y, Watanabe T,
            Hamano H, Meguro A, Kawa S and Ota M.
  TITLE     IL1R1 gene variants associate with disease susceptibility to
            IgG4-related periaortitis/periarteritis in IgG4-related disease
  JOURNAL   Gene 820, 146212 (2022)
   PUBMED   35143941
  REMARK    GeneRIF: IL1R1 gene variants associate with disease susceptibility
            to IgG4-related periaortitis/periarteritis in IgG4-related disease.
REFERENCE   4  (bases 1 to 5183)
  AUTHORS   Molina-Ayala MA, Rodriguez-Amador V, Suarez-Sanchez R, Leon-Solis L,
            Gomez-Zamudio J, Mendoza-Zubieta V, Cruz M and Suarez-Sanchez F.
  TITLE     Expression of obesity- and type-2 diabetes-associated genes in
            omental adipose tissue of individuals with obesity
  JOURNAL   Gene 815, 146181 (2022)
   PUBMED   34995730
  REMARK    GeneRIF: Expression of obesity- and type-2 diabetes-associated genes
            in omental adipose tissue of individuals with obesity.
REFERENCE   5  (bases 1 to 5183)
  AUTHORS   Sivaraj N, K V R, Suvvari TK, Prasad S, Boppana SH and Vegi PK.
  TITLE     Association of IL1R1 gene (SNP rs2071374) with the risk of
            preeclampsia
  JOURNAL   J Reprod Immunol 149, 103463 (2022)
   PUBMED   34923425
  REMARK    GeneRIF: Association of IL1R1 gene (SNP rs2071374) with the risk of
            preeclampsia.
REFERENCE   6  (bases 1 to 5183)
  AUTHORS   McMahan CJ, Slack JL, Mosley B, Cosman D, Lupton SD, Brunton LL,
            Grubin CE, Wignall JM, Jenkins NA, Brannan CI et al.
  TITLE     A novel IL-1 receptor, cloned from B cells by mammalian expression,
            is expressed in many cell types
  JOURNAL   EMBO J 10 (10), 2821-2832 (1991)
   PUBMED   1833184
REFERENCE   7  (bases 1 to 5183)
  AUTHORS   Copeland NG, Silan CM, Kingsley DM, Jenkins NA, Cannizzaro LA, Croce
            CM, Huebner K and Sims JE.
  TITLE     Chromosomal location of murine and human IL-1 receptor genes
  JOURNAL   Genomics 9 (1), 44-50 (1991)
   PUBMED   1672292
REFERENCE   8  (bases 1 to 5183)
  AUTHORS   Chua AO and Gubler U.
  TITLE     Sequence of the cDNA for the human fibroblast type interleukin-1
            receptor
  JOURNAL   Nucleic Acids Res 17 (23), 10114 (1989)
   PUBMED   2532321
REFERENCE   9  (bases 1 to 5183)
  AUTHORS   Sims JE, Acres RB, Grubin CE, McMahan CJ, Wignall JM, March CJ and
            Dower SK.
  TITLE     Cloning the interleukin 1 receptor from human T cells
  JOURNAL   Proc Natl Acad Sci U S A 86 (22), 8946-8950 (1989)
   PUBMED   2530587
REFERENCE   10  (bases 1 to 5183)
  AUTHORS   Uhl J, Newton RC, Giri JG, Sandlin G and Horuk R.
  TITLE     Identification of IL-1 receptors on human monocytes
  JOURNAL   J Immunol 142 (5), 1576-1581 (1989)
   PUBMED   2521881
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X16896.1, SRR5189667.133797.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000410023.6/ ENSP00000386380.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007271.4, HY092388.1,
            M27492.1, BE144272.1, AL548240.3 and BQ021163.1.
            On Nov 24, 2018 this sequence version replaced NM_000877.3.
            Summary: This gene encodes a cytokine receptor that belongs to the
            interleukin-1 receptor family. The encoded protein is a receptor
            for interleukin-1 alpha, interleukin-1 beta, and interleukin-1
            receptor antagonist. It is an important mediator involved in many
            cytokine-induced immune and inflammatory responses. This gene is
            located in a cluster of related cytokine receptor genes on
            chromosome 2q12. [provided by RefSeq, Dec 2013].
            Transcript Variant: This variant (1) is transcribed from a
            downstream promoter compared to variant 2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5183
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2-q12.1"
     gene            1..5183
                     /gene="IL1R1"
                     /gene_synonym="CD121A; CRMO3; D2S1473; IL-1R-alpha;
                     IL-1RT1; IL1R; IL1RA; P80"
                     /note="interleukin 1 receptor type 1"
                     /db_xref="GeneID:3554"
                     /db_xref="HGNC:HGNC:5993"
                     /db_xref="MIM:147810"
     misc_feature    299..301
                     /gene="IL1R1"
                     /gene_synonym="CD121A; CRMO3; D2S1473; IL-1R-alpha;
                     IL-1RT1; IL1R; IL1RA; P80"
                     /note="upstream in-frame stop codon"
     CDS             359..2068
                     /gene="IL1R1"
                     /gene_synonym="CD121A; CRMO3; D2S1473; IL-1R-alpha;
                     IL-1RT1; IL1R; IL1RA; P80"
                     /EC_number="3.2.2.6"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; interleukin 1 receptor alpha, type I; interleukin-1
                     receptor alpha; interleukin-1 receptor type I; CD121
                     antigen-like family member A"
                     /codon_start=1
                     /product="interleukin-1 receptor type 1 isoform 1
                     precursor"
                     /protein_id="NP_000868.1"
                     /db_xref="CCDS:CCDS2055.1"
                     /db_xref="GeneID:3554"
                     /db_xref="HGNC:HGNC:5993"
                     /db_xref="MIM:147810"
                     /translation="MKVLLRLICFIALLISSLEADKCKEREEKIILVSSANEIDVRPCP
                     LNPNEHKGTITWYKDDSKTPVSTEQASRIHQHKEKLWFVPAKVEDSGHYYCVVRNSSYC
                     LRIKISAKFVENEPNLCYNAQAIFKQKLPVAGDGGLVCPYMEFFKNENNELPKLQWYKD
                     CKPLLLDNIHFSGVKDRLIVMNVAEKHRGNYTCHASYTYLGKQYPITRVIEFITLEENK
                     PTRPVIVSPANETMEVDLGSQIQLICNVTGQLSDIAYWKWNGSVIDEDDPVLGEDYYSV
                     ENPANKRRSTLITVLNISEIESRFYKHPFTCFAKNTHGIDAAYIQLIYPVTNFQKHMIG
                     ICVTLTVIIVCSVFIYKIFKIDIVLWYRDSCYDFLPIKASDGKTYDAYILYPKTVGEGS
                     TSDCDIFVFKVLPEVLEKQCGYKLFIYGRDDYVGEDIVEVINENVKKSRRLIIILVRET
                     SGFSWLGGSSEEQIAMYNALVQDGIKVVLLELEKIQDYEKMPESIKFIKQKHGAIRWSG
                     DFTQGPQSAKTRFWKNVRYHMPVQRRSPSSKHQLLSPATKEKLQREAHVPLG"
     sig_peptide     359..418
                     /gene="IL1R1"
                     /gene_synonym="CD121A; CRMO3; D2S1473; IL-1R-alpha;
                     IL-1RT1; IL1R; IL1RA; P80"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     419..2065
                     /gene="IL1R1"
                     /gene_synonym="CD121A; CRMO3; D2S1473; IL-1R-alpha;
                     IL-1RT1; IL1R; IL1RA; P80"
                     /product="interleukin-1 receptor type 1 isoform 1"
     regulatory      5156..5161
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL1R1"
                     /gene_synonym="CD121A; CRMO3; D2S1473; IL-1R-alpha;
                     IL-1RT1; IL1R; IL1RA; P80"
                     /note="hexamer: AATAAA"
     polyA_site      5183
                     /gene="IL1R1"
                     /gene_synonym="CD121A; CRMO3; D2S1473; IL-1R-alpha;
                     IL-1RT1; IL1R; IL1RA; P80"
                     /note="major polyA site"
ORIGIN
        1 agttcccggc cgcgagggcg ggcgcagctt gtggccggcg gccggagccg actcggagcg
       61 cgcggcgccg gccgggagga gccggagagc ggccgggccg ggcggtgggg gcgccggcct
      121 gccccgcgcg ccccagggag cggcaggaat gtgacaatcg cgcgcccgcg caccgaagca
      181 ctcctcgctc ggctcctagg gctctcgccc ctctgagctg agccgggttc cgcccggggc
      241 tgggatccca tcaccctcca cggccgtccg tccaggtaga cgcaccctct gaagatggtg
      301 actccctcct gagaagctgg accccttggt aaaagacaag gccttctcca agaagaatat
      361 gaaagtgtta ctcagactta tttgtttcat agctctactg atttcttctc tggaggctga
      421 taaatgcaag gaacgtgaag aaaaaataat tttagtgtca tctgcaaatg aaattgatgt
      481 tcgtccctgt cctcttaacc caaatgaaca caaaggcact ataacttggt ataaagatga
      541 cagcaagaca cctgtatcta cagaacaagc ctccaggatt catcaacaca aagagaaact
      601 ttggtttgtt cctgctaagg tggaggattc aggacattac tattgcgtgg taagaaattc
      661 atcttactgc ctcagaatta aaataagtgc aaaatttgtg gagaatgagc ctaacttatg
      721 ttataatgca caagccatat ttaagcagaa actacccgtt gcaggagacg gaggacttgt
      781 gtgcccttat atggagtttt ttaaaaatga aaataatgag ttacctaaat tacagtggta
      841 taaggattgc aaacctctac ttcttgacaa tatacacttt agtggagtca aagataggct
      901 catcgtgatg aatgtggctg aaaagcatag agggaactat acttgtcatg catcctacac
      961 atacttgggc aagcaatatc ctattacccg ggtaatagaa tttattactc tagaggaaaa
     1021 caaacccaca aggcctgtga ttgtgagccc agctaatgag acaatggaag tagacttggg
     1081 atcccagata caattgatct gtaatgtcac cggccagttg agtgacattg cttactggaa
     1141 gtggaatggg tcagtaattg atgaagatga cccagtgcta ggggaagact attacagtgt
     1201 ggaaaatcct gcaaacaaaa gaaggagtac cctcatcaca gtgcttaata tatcggaaat
     1261 tgaaagtaga ttttataaac atccatttac ctgttttgcc aagaatacac atggtataga
     1321 tgcagcatat atccagttaa tatatccagt cactaatttc cagaagcaca tgattggtat
     1381 atgtgtcacg ttgacagtca taattgtgtg ttctgttttc atctataaaa tcttcaagat
     1441 tgacattgtg ctttggtaca gggattcctg ctatgatttt ctcccaataa aagcttcaga
     1501 tggaaagacc tatgacgcat atatactgta tccaaagact gttggggaag ggtctacctc
     1561 tgactgtgat atttttgtgt ttaaagtctt gcctgaggtc ttggaaaaac agtgtggata
     1621 taagctgttc atttatggaa gggatgacta cgttggggaa gacattgttg aggtcattaa
     1681 tgaaaacgta aagaaaagca gaagactgat tatcatttta gtcagagaaa catcaggctt
     1741 cagctggctg ggtggttcat ctgaagagca aatagccatg tataatgctc ttgttcagga
     1801 tggaattaaa gttgtcctgc ttgagctgga gaaaatccaa gactatgaga aaatgccaga
     1861 atcgattaaa ttcattaagc agaaacatgg ggctatccgc tggtcagggg actttacaca
     1921 gggaccacag tctgcaaaga caaggttctg gaagaatgtc aggtaccaca tgccagtcca
     1981 gcgacggtca ccttcatcta aacaccagtt actgtcacca gccactaagg agaaactgca
     2041 aagagaggct cacgtgcctc tcgggtagca tggagaagtt gccaagagtt ctttaggtgc
     2101 ctcctgtctt atggcgttgc aggccaggtt atgcctcatg ctgacttgca gagttcatgg
     2161 aatgtaacta tatcatcctt tatccctgag gtcacctgga atcagattat taagggaata
     2221 agccatgacg tcaatagcag cccagggcac ttcagagtag agggcttggg aagatctttt
     2281 aaaaaggcag taggcccggt gtggtggctc acgcctataa tcccagcact ttgggaggct
     2341 gaagtgggtg gatcaccaga ggtcaggagt tcgagaccag cccagccaac atggcaaaac
     2401 cccatctcta ctaaaaatac aaaaatgagc taggcatggt ggcacacgcc tgtaatccca
     2461 gctacacctg aggctgaggc aggagaattg cttgaaccgg ggagacggag gttgcagtga
     2521 gccgagtttg ggccactgca ctctagcctg gcaacagagc aagactccgt ctcaaaaaaa
     2581 gggcaataaa tgccctctct gaatgtttga actgccaaga aaaggcatgg agacagcgaa
     2641 ctagaagaaa gggcaagaag gaaatagcca ccgtctacag atggcttagt taagtcatcc
     2701 acagcccaag ggcggggcta tgccttgtct ggggaccctg tagagtcact gaccctggag
     2761 cggctctcct gagaggtgct gcaggcaaag tgagactgac acctcactga ggaagggaga
     2821 catattcttg gagaactttc catctgcttg tattttccat acacatcccc agccagaagt
     2881 tagtgtccga agaccgaatt ttattttaca gagcttgaaa actcacttca atgaacaaag
     2941 ggattctcca ggattccaaa gttttgaagt catcttagct ttccacagga gggagagaac
     3001 ttaaaaaagc aacagtagca gggaattgat ccacttctta atgctttcct ccctggcatg
     3061 accatcctgt cctttgttat tatcctgcat tttacgtctt tggaggaaca gctccctagt
     3121 ggcttcctcc gtctgcaatg tcccttgcac agcccacaca tgaaccatcc ttcccatgat
     3181 gccgctcttc tgtcatcccg ctcctgctga aacacctccc aggggctcca cctgttcagg
     3241 agctgaagcc catgctttcc caccagcatg tcactcccag accacctccc tgccctgtcc
     3301 tccagcttcc cctcgctgtc ctgctgtgtg aattcccagg ttggcctggt ggccatgtcg
     3361 cctgccccca gcactcctct gtctctgctc ttgcctgcac ccttcctcct cctttgccta
     3421 ggaggccttc tcgcattttc tctagctgat cagaatttta ccaaaattca gaacatcctc
     3481 caattccaca gtctctggga gactttccct aagaggcgac ttcctctcca gccttctctc
     3541 tctggtcagg cccactgcag agatggtggt gagcacatct gggaggctgg tctccctcca
     3601 gctggaattg ctgctctctg agggagaggc tgtggtggct gtctctgtcc ctcactgcct
     3661 tccaggagca atttgcacat gtaacataga tttatgtaat gctttatgtt taaaaacatt
     3721 ccccaattat cttatttaat ttttgcaatt attctaattt tatatataga gaaagtgacc
     3781 tattttttaa aaaaatcaca ctctaagttc tattgaacct aggacttgag cctccatttc
     3841 tggcttctag tctggtgttc tgagtacttg atttcaggtc aataacggtc ccccctcact
     3901 ccacactggc acgtttgtga gaagaaatga cattttgcta ggaagtgacc gagtctagga
     3961 atgcttttat tcaagacacc aaattccaaa cttctaaatg ttggaatttt caaaaattgt
     4021 gtttagattt tatgaaaaac tcttctactt tcatctattc tttccctaga ggcaaacatt
     4081 tcttaaaatg tttcattttc attaaaaatg aaagccaaat ttatatgcca ccgattgcag
     4141 gacacaagca cagttttaag agttgtatga acatggagag gacttttggt ttttatattt
     4201 ctcgtattta atatgggtga acaccaactt ttatttggaa taataatttt cctcctaaac
     4261 aaaaacacat tgagtttaag tctctgactc ttgcctttcc acctgctttc tcctgggccc
     4321 gctttgcctg cttgaaggaa cagtgctgtt ctggagctgc tgttccaaca gacagggcct
     4381 agctttcatt tgacacacag actacagcca gaagcccatg gagcagggat gtcacgtctt
     4441 gaaaagccta ttagatgttt tacaaattta attttgcaga ttattttagt ctgtcatcca
     4501 gaaaatgtgt cagcatgcat agtgctaaga aagcaagcca atttggaaac ttaggttagt
     4561 gacaaaattg gccagagagt gggggtgatg atgaccaaga attacaagta gaatggcagc
     4621 tggaatttaa ggagggacaa gaatcaatgg ataagcgtgg gtggaggaag atccaaacag
     4681 aaaagtgcaa agttattccc catcttccaa gggttgaatt ctggaggaag aagacacatt
     4741 cctagttccc cgtgaacttc ctttgactta ttgtccccac taaaacaaaa caaaaaactt
     4801 ttaatgcctt ccacattaat tagattttct tgcagttttt ttatggcatt tttttaaaga
     4861 tgccctaagt gttgaagaag agtttgcaaa tgcaacaaaa tatttaatta ccggttgtta
     4921 aaactggttt agcacaattt atattttccc tctcttgcct ttcttatttg caataaaagg
     4981 tattgagcca ttttttaaat gacatttttg ataaattatg tttgtactag ttgatgaagg
     5041 agtttttttt aacctgttta tataattttg cagcagaagc caaatttttt gtatattaaa
     5101 gcaccaaatt catgtacagc atgcatcacg gatcaataga ctgtacttat tttccaataa
     5161 aattttcaaa ctttgtactg tta
//
LOCUS       NM_000878               4034 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens interleukin 2 receptor subunit beta (IL2RB), transcript
            variant 1, mRNA.
ACCESSION   NM_000878
VERSION     NM_000878.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4034)
  AUTHORS   Zhou J, Zhang Y and Zhuang Q.
  TITLE     IL2RB affects Th1/Th2 and Th17 responses of peripheral blood
            mononuclear cells from septic patients
  JOURNAL   Allergol Immunopathol (Madr) 51 (3), 1-7 (2023)
   PUBMED   37169553
  REMARK    GeneRIF: IL2RB affects Th1/Th2 and Th17 responses of peripheral
            blood mononuclear cells from septic patients. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 4034)
  AUTHORS   Liao Y, Ke B, Long X, Xu J and Wu Y.
  TITLE     Upregulated Expression of IL2RB Causes Disorder of Immune
            Microenvironment in Patients with Kawasaki Disease
  JOURNAL   Biomed Res Int 2022, 2114699 (2022)
   PUBMED   35924269
  REMARK    GeneRIF: Upregulated Expression of IL2RB Causes Disorder of Immune
            Microenvironment in Patients with Kawasaki Disease. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 4034)
  AUTHORS   Gao H, Wang L, Ren J, Liu Y, Liang S, Zhang B and Sun X.
  TITLE     Interleukin 2 receptor subunit beta as a novel hub gene plays a
            potential role in the immune microenvironment of abdominal aortic
            aneurysms
  JOURNAL   Gene 827, 146472 (2022)
   PUBMED   35381314
  REMARK    GeneRIF: Interleukin 2 receptor subunit beta as a novel hub gene
            plays a potential role in the immune microenvironment of abdominal
            aortic aneurysms.
REFERENCE   4  (bases 1 to 4034)
  AUTHORS   Gatselis NK, Lygoura V, Lyberopoulou A, Giannoulis G, Samakidou A,
            Vaiou A, Vatidis G, Antoniou K, Stefos A, Georgiadou S, Sagris D,
            Sveroni D, Stergioula D, Gabeta S, Ntaios G and Dalekos GN.
  TITLE     Soluble IL-2R Levels at Baseline Predict the Development of Severe
            Respiratory Failure and Mortality in COVID-19 Patients
  JOURNAL   Viruses 14 (4), 787 (2022)
   PUBMED   35458517
  REMARK    GeneRIF: Soluble IL-2R Levels at Baseline Predict the Development of
            Severe Respiratory Failure and Mortality in COVID-19 Patients.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4034)
  AUTHORS   Luo K, Chen Y, Yang J, Tao Q and Luo M.
  TITLE     Liver Injury and Elevated Levels of Interleukins, Interleukin-2
            Receptor, and Interleukin-6 Predict the Severity in Patients With
            COVID-19
  JOURNAL   Front Public Health 9, 778340 (2021)
   PUBMED   34970527
  REMARK    GeneRIF: Liver Injury and Elevated Levels of Interleukins,
            Interleukin-2 Receptor, and Interleukin-6 Predict the Severity in
            Patients With COVID-19. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4034)
  AUTHORS   Cohen CJ, Rebollo R, Babovic S, Dai EL, Robinson WP and Mager DL.
  TITLE     Placenta-specific expression of the interleukin-2 (IL-2) receptor
            beta subunit from an endogenous retroviral promoter
  JOURNAL   J Biol Chem 286 (41), 35543-35552 (2011)
   PUBMED   21865161
  REMARK    GeneRIF: LTR of the THE1D retroelement family has been domesticated
            as an alternative promoter of human IL2RB, the gene encoding the
            beta subunit of the IL-2 receptor.
REFERENCE   7  (bases 1 to 4034)
  AUTHORS   Purvis SF, Georges DL, Williams TM and Lederman MM.
  TITLE     Suppression of interleukin-2 and interleukin-2 receptor expression
            in Jurkat cells stably expressing the human immunodeficiency virus
            Tat protein
  JOURNAL   Cell Immunol 144 (1), 32-42 (1992)
   PUBMED   1394441
REFERENCE   8  (bases 1 to 4034)
  AUTHORS   Maslinski W, Remillard B, Tsudo M and Strom TB.
  TITLE     Interleukin-2 (IL-2) induces tyrosine kinase-dependent translocation
            of active raf-1 from the IL-2 receptor into the cytosol
  JOURNAL   J Biol Chem 267 (22), 15281-15284 (1992)
   PUBMED   1639773
REFERENCE   9  (bases 1 to 4034)
  AUTHORS   Torigoe T, Saragovi HU and Reed JC.
  TITLE     Interleukin 2 regulates the activity of the lyn protein-tyrosine
            kinase in a B-cell line
  JOURNAL   Proc Natl Acad Sci U S A 89 (7), 2674-2678 (1992)
   PUBMED   1557373
REFERENCE   10  (bases 1 to 4034)
  AUTHORS   Miyazaki T, Maruyama M, Yamada G, Hatakeyama M and Taniguchi T.
  TITLE     The integrity of the conserved 'WS motif' common to IL-2 and other
            cytokine receptors is essential for ligand binding and signal
            transduction
  JOURNAL   EMBO J 10 (11), 3191-3197 (1991)
   PUBMED   1915291
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK312860.1, M26062.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000216223.10/ ENSP00000216223.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312860.1, AL022314.1 and
            AA834613.1.
            On Nov 22, 2018 this sequence version replaced NM_000878.4.
            Summary: The interleukin 2 receptor, which is involved in T
            cell-mediated immune responses, is present in 3 forms with respect
            to ability to bind interleukin 2. The low affinity form is a
            monomer of the alpha subunit and is not involved in signal
            transduction. The intermediate affinity form consists of an
            alpha/beta subunit heterodimer, while the high affinity form
            consists of an alpha/beta/gamma subunit heterotrimer. Both the
            intermediate and high affinity forms of the receptor are involved
            in receptor-mediated endocytosis and transduction of mitogenic
            signals from interleukin 2. The protein encoded by this gene
            represents the beta subunit and is a type I membrane protein. The
            use of alternative promoters results in multiple transcript
            variants encoding the same protein. The protein is primarily
            expressed in the hematopoietic system. The use by some variants of
            an alternate promoter in an upstream long terminal repeat (LTR)
            results in placenta-specific expression. [provided by RefSeq, Sep
            2016].
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2 and 3 encode the same protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4034
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.3"
     gene            1..4034
                     /gene="IL2RB"
                     /gene_synonym="CD122; IL15RB; IMD63; P70-75"
                     /note="interleukin 2 receptor subunit beta"
                     /db_xref="GeneID:3560"
                     /db_xref="HGNC:HGNC:6009"
                     /db_xref="MIM:146710"
     CDS             126..1781
                     /gene="IL2RB"
                     /gene_synonym="CD122; IL15RB; IMD63; P70-75"
                     /note="interleukin 15 receptor, beta; high affinity IL-2
                     receptor beta subunit; CD122 antigen; p75; IL-2RB; IL-2R
                     subunit beta; IL-2 receptor subunit beta; interleukin-15
                     receptor subunit beta; high affinity IL-2 receptor subunit
                     beta; interleukin 2 receptor, beta"
                     /codon_start=1
                     /product="interleukin-2 receptor subunit beta precursor"
                     /protein_id="NP_000869.1"
                     /db_xref="CCDS:CCDS13942.1"
                     /db_xref="GeneID:3560"
                     /db_xref="HGNC:HGNC:6009"
                     /db_xref="MIM:146710"
                     /translation="MAAPALSWRLPLLILLLPLATSWASAAVNGTSQFTCFYNSRANIS
                     CVWSQDGALQDTSCQVHAWPDRRRWNQTCELLPVSQASWACNLILGAPDSQKLTTVDIV
                     TLRVLCREGVRWRVMAIQDFKPFENLRLMAPISLQVVHVETHRCNISWEISQASHYFER
                     HLEFEARTLSPGHTWEEAPLLTLKQKQEWICLETLTPDTQYEFQVRVKPLQGEFTTWSP
                     WSQPLAFRTKPAALGKDTIPWLGHLLVGLSGAFGFIILVYLLINCRNTGPWLKKVLKCN
                     TPDPSKFFSQLSSEHGGDVQKWLSSPFPSSSFSPGGLAPEISPLEVLERDKVTQLLLQQ
                     DKVPEPASLSSNHSLTSCFTNQGYFFFHLPDALEIEACQVYFTYDPYSEEDPDEGVAGA
                     PTGSSPQPLQPLSGEDDAYCTFPSRDDLLLFSPSLLGGPSPPSTAPGGSGAGEERMPPS
                     LQERVPRDWDPQPLGPPTPGVPDLVDFQPPPELVLREAGEEVPDAGPREGVSFPWSRPP
                     GQGEFRALNARLPLNTDAYLSLQELQGQDPTHLV"
     sig_peptide     126..203
                     /gene="IL2RB"
                     /gene_synonym="CD122; IL15RB; IMD63; P70-75"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     204..1778
                     /gene="IL2RB"
                     /gene_synonym="CD122; IL15RB; IMD63; P70-75"
                     /product="Interleukin-2 receptor subunit beta.
                     /id=PRO_0000010878"
                     /note="propagated from UniProtKB/Swiss-Prot (P14784.1)"
     misc_feature    210..212
                     /gene="IL2RB"
                     /gene_synonym="CD122; IL15RB; IMD63; P70-75"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14784.1); glycosylation site"
     misc_feature    252..254
                     /gene="IL2RB"
                     /gene_synonym="CD122; IL15RB; IMD63; P70-75"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16477002; propagated from
                     UniProtKB/Swiss-Prot (P14784.1); glycosylation site"
     misc_feature    336..338
                     /gene="IL2RB"
                     /gene_synonym="CD122; IL15RB; IMD63; P70-75"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16477002; propagated from
                     UniProtKB/Swiss-Prot (P14784.1); glycosylation site"
     misc_feature    570..572
                     /gene="IL2RB"
                     /gene_synonym="CD122; IL15RB; IMD63; P70-75"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16293754,
                     ECO:0000269|PubMed:16477002; propagated from
                     UniProtKB/Swiss-Prot (P14784.1); glycosylation site"
     misc_feature    783..797
                     /gene="IL2RB"
                     /gene_synonym="CD122; IL15RB; IMD63; P70-75"
                     /note="propagated from UniProtKB/Swiss-Prot (P14784.1);
                     Region: WSXWS motif"
     misc_feature    846..920
                     /gene="IL2RB"
                     /gene_synonym="CD122; IL15RB; IMD63; P70-75"
                     /note="propagated from UniProtKB/Swiss-Prot (P14784.1);
                     transmembrane region"
     misc_feature    957..983
                     /gene="IL2RB"
                     /gene_synonym="CD122; IL15RB; IMD63; P70-75"
                     /note="propagated from UniProtKB/Swiss-Prot (P14784.1);
                     Region: Box 1 motif"
     misc_feature    1290..1373
                     /gene="IL2RB"
                     /gene_synonym="CD122; IL15RB; IMD63; P70-75"
                     /note="propagated from UniProtKB/Swiss-Prot (P14784.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1419..1583
                     /gene="IL2RB"
                     /gene_synonym="CD122; IL15RB; IMD63; P70-75"
                     /note="propagated from UniProtKB/Swiss-Prot (P14784.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3999..4004
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL2RB"
                     /gene_synonym="CD122; IL15RB; IMD63; P70-75"
                     /note="hexamer: AATAAA"
     polyA_site      4034
                     /gene="IL2RB"
                     /gene_synonym="CD122; IL15RB; IMD63; P70-75"
                     /note="major polyA site"
ORIGIN
        1 agagctcagc agggccctgg agagatggcc acggtcccag caccggggag gactggagag
       61 cgcgcgctgc caccgcccca tgtctcagcc agggcttcct tcctcggctc caccctgtgg
      121 atgtaatggc ggcccctgct ctgtcctggc gtctgcccct cctcatcctc ctcctgcccc
      181 tggctacctc ttgggcatct gcagcggtga atggcacttc ccagttcaca tgcttctaca
      241 actcgagagc caacatctcc tgtgtctgga gccaagatgg ggctctgcag gacacttcct
      301 gccaagtcca tgcctggccg gacagacggc ggtggaacca aacctgtgag ctgctccccg
      361 tgagtcaagc atcctgggcc tgcaacctga tcctcggagc cccagattct cagaaactga
      421 ccacagttga catcgtcacc ctgagggtgc tgtgccgtga gggggtgcga tggagggtga
      481 tggccatcca ggacttcaag ccctttgaga accttcgcct gatggccccc atctccctcc
      541 aagttgtcca cgtggagacc cacagatgca acataagctg ggaaatctcc caagcctccc
      601 actactttga aagacacctg gagttcgagg cccggacgct gtccccaggc cacacctggg
      661 aggaggcccc cctgctgact ctcaagcaga agcaggaatg gatctgcctg gagacgctca
      721 ccccagacac ccagtatgag tttcaggtgc gggtcaagcc tctgcaaggc gagttcacga
      781 cctggagccc ctggagccag cccctggcct tcaggacaaa gcctgcagcc cttgggaagg
      841 acaccattcc gtggctcggc cacctcctcg tgggcctcag cggggctttt ggcttcatca
      901 tcttagtgta cttgctgatc aactgcagga acaccgggcc atggctgaag aaggtcctga
      961 agtgtaacac cccagacccc tcgaagttct tttcccagct gagctcagag catggaggag
     1021 acgtccagaa gtggctctct tcgcccttcc cctcatcgtc cttcagccct ggcggcctgg
     1081 cacctgagat ctcgccacta gaagtgctgg agagggacaa ggtgacgcag ctgctcctgc
     1141 agcaggacaa ggtgcctgag cccgcatcct taagcagcaa ccactcgctg accagctgct
     1201 tcaccaacca gggttacttc ttcttccacc tcccggatgc cttggagata gaggcctgcc
     1261 aggtgtactt tacttacgac ccctactcag aggaagaccc tgatgagggt gtggccgggg
     1321 cacccacagg gtcttccccc caacccctgc agcctctgtc aggggaggac gacgcctact
     1381 gcaccttccc ctccagggat gacctgctgc tcttctcccc cagtctcctc ggtggcccca
     1441 gccccccaag cactgcccct gggggcagtg gggccggtga agagaggatg cccccttctt
     1501 tgcaagaaag agtccccaga gactgggacc cccagcccct ggggcctccc accccaggag
     1561 tcccagacct ggtggatttt cagccacccc ctgagctggt gctgcgagag gctggggagg
     1621 aggtccctga cgctggcccc agggagggag tcagtttccc ctggtccagg cctcctgggc
     1681 agggggagtt cagggccctt aatgctcgcc tgcccctgaa cactgatgcc tacttgtccc
     1741 tccaagaact ccagggtcag gacccaactc acttggtgta gacagatggc cagggtggga
     1801 ggcaggcagc tgcctgctct gcgccgagcc tcagaaggac cctgttgagg gtcctcagtc
     1861 cactgctgag gacactcagt gtccagttgc agctggactt ctccacccgg atggccccca
     1921 cccagtcctg cacacttggt ccatccattt ccaaacctcc actgctgctc ccgggtcctg
     1981 ctgcccgagc caggaactgt gtgtgttgca ggggggcagt aactccccaa ctccctcgtt
     2041 aatcacagga tcccacgaat ttaggctcag aagcatcgct cctctccagc cctgcagcta
     2101 ttcaccaata tcagtcctcg cggctctcca gggctccctg ccctgacctc ttccctgggt
     2161 tttctgcccc agcctcctcc ttccctcccc tccccgtcca cagggcagcc tgagcgtgct
     2221 ttccaaaacc caaatatggc cacgctcccc ctcggttcaa aaccttgcac aggtcccact
     2281 gccctcagcc ccacttctca gcctggtact tgtacctccg gtgtcgtgtg gggacatccc
     2341 cttctgcaat cctccctacc gtcctcctga gccactcaga gctccctcac accccctctg
     2401 ttgcacatgc tattccctgg ggctgctgtg cgctccccct catctaggtg acaaacttcc
     2461 ctgactcttc aagtgccggt tttgcttctc ctggagggaa gcactgcctc ccttaatctg
     2521 ccagaaactt ctagcgtcag tgctggaggg agaagctgtc agggacccag ggcgcctgga
     2581 gaaagaggcc ctgttactat tcctttggga tctctgaggc ctcagagtgc ttggctgctg
     2641 tatctttaat gctggggccc aagtaagggc acagatcccc ccacaaagtg gatgcctgct
     2701 gcatcttccc acagtggctt cacagaccca caagagaagc tgatggggag taaaccctgg
     2761 agtccgaggc ccaggcagca gccccgccta gtggtgggcc ctgatgctgc caggcctggg
     2821 acctcccact gccccctcca ctggaggggt ctcctctgca gctcagggac tggcacactg
     2881 gcctccagaa gggcagctcc acagggcagg gcctcattat ttttcactgc cccagacaca
     2941 gtgcccaaca ccccgtcgta taccctggat gaacgaatta attacctggc accacctcgt
     3001 ctgggctccc tgcgcctgac attcacacag agaggcagag tcccgtgccc attaggtctg
     3061 gcatgccccc tcctgcaagg ggctcaaccc cctaccccga cccctccacg tatctttcct
     3121 aggcagatca cgttgcaatg gctcaaacaa cattccaccc cagcaggaca gtgaccccag
     3181 tcccagctaa ctctgacctg ggagccctca ggcacctgca cttacaggcc ttgctcacag
     3241 ctgattgggc acctgaccac acgcccccac aggctctgac cagcagccta tgagggggtt
     3301 tggcaccaag ctctgtccaa tcaggtaggc tgggcctgaa ctagccaatc agatcaactc
     3361 tgtcttgggc gtttgaactc agggagggag gcccttggga gcaggtgctt gtggacaagg
     3421 ctccacaagc gttgagcctt ggaaaggtag acaagcgttg agccactaag cagaggacct
     3481 tgggttccca atacaaaaat acctactgct gagagggctg ctgaccattt ggtcaggatt
     3541 cctgttgcct ttatatccaa aataaactcc cctttcttga ggttgtctga gtcttgggtc
     3601 tatgccttga aaaaagctga attattggac agtctcacct cctgccatag ggtcctgaat
     3661 gtttcagacc acaaggggct ccacaccttt gctgtgtgtt ctggggcaac ctactaatcc
     3721 tctctgcaag tcggtctcct tatcccccca aatggaaatt gtatttgcct tctccacttt
     3781 gggaggctcc cacttcttgg gagggttaca ttttttaagt cttaatcatt tgtgacatat
     3841 gtatctatac atccgtatct tttaatgatc cgtgtgtacc atctttgtga ttatttcctt
     3901 aatatttttt ctttaagtca gttcattttc gttgaaatac atttatttaa agaaaaatct
     3961 ttgttactct gtaaatgaaa aaacccattt tcgctataaa taaaaggtaa ctgtacaaaa
     4021 taagtacaat gcaa
//
LOCUS       NM_000879                815 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens interleukin 5 (IL5), mRNA.
ACCESSION   NM_000879
VERSION     NM_000879.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 815)
  AUTHORS   Qiu Y, Bao W, Tian X, Zhang Y, Pan Y, Xie G, Bao A, Yin D, Zhang M
            and Zhou Y.
  TITLE     Vitamin D status in hospitalized COVID-19 patients is associated
            with disease severity and IL-5 production
  JOURNAL   Virol J 20 (1), 212 (2023)
   PUBMED   37705107
  REMARK    GeneRIF: Vitamin D status in hospitalized COVID-19 patients is
            associated with disease severity and IL-5 production. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 815)
  AUTHORS   Zhang W, He J, Liu M, Huang M, Chen Q, Dong J, Zhang H, Xie T, Yuan
            J and Zha L.
  TITLE     Genetic Analysis Reveals Different Mechanisms of IL-5 Involved in
            the Development of CAD in a Chinese Han Population
  JOURNAL   Oxid Med Cell Longev 2023, 1700857 (2023)
   PUBMED   36760349
  REMARK    GeneRIF: Genetic Analysis Reveals Different Mechanisms of IL-5
            Involved in the Development of CAD in a Chinese Han Population.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 815)
  AUTHORS   Wang P, Mo Z, Zhang Y, Guo C, Chikede TK, Chen D, Lei Z, Gao Z,
            Zhang Q and Tong Q.
  TITLE     Serum IL-5 levels predict HBsAg seroclearance in patients treated
            with Nucleos(t)ide analogues combined with pegylated interferon
  JOURNAL   Front Immunol 13, 1104329 (2023)
   PUBMED   36685563
  REMARK    GeneRIF: Serum IL-5 levels predict HBsAg seroclearance in patients
            treated with Nucleos(t)ide analogues combined with pegylated
            interferon. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 815)
  AUTHORS   Milburn MV, Hassell AM, Lambert MH, Jordan SR, Proudfoot AE, Graber
            P and Wells TN.
  TITLE     A novel dimer configuration revealed by the crystal structure at 2.4
            A resolution of human interleukin-5
  JOURNAL   Nature 363 (6425), 172-176 (1993)
   PUBMED   8483502
REFERENCE   5  (bases 1 to 815)
  AUTHORS   Tavernier J, Tuypens T, Plaetinck G, Verhee A, Fiers W and Devos R.
  TITLE     Molecular basis of the membrane-anchored and two soluble isoforms of
            the human interleukin 5 receptor alpha subunit
  JOURNAL   Proc Natl Acad Sci U S A 89 (15), 7041-7045 (1992)
   PUBMED   1495999
REFERENCE   6  (bases 1 to 815)
  AUTHORS   Tavernier J, Devos R, Cornelis S, Tuypens T, Van der Heyden J, Fiers
            W and Plaetinck G.
  TITLE     A human high affinity interleukin-5 receptor (IL5R) is composed of
            an IL5-specific alpha chain and a beta chain shared with the
            receptor for GM-CSF
  JOURNAL   Cell 66 (6), 1175-1184 (1991)
   PUBMED   1833065
REFERENCE   7  (bases 1 to 815)
  AUTHORS   Lopez AF, Eglinton JM, Lyons AB, Tapley PM, To LB, Park LS, Clark SC
            and Vadas MA.
  TITLE     Human interleukin-3 inhibits the binding of granulocyte-macrophage
            colony-stimulating factor and interleukin-5 to basophils and
            strongly enhances their functional activity
  JOURNAL   J Cell Physiol 145 (1), 69-77 (1990)
   PUBMED   1698795
REFERENCE   8  (bases 1 to 815)
  AUTHORS   Takahashi M, Yoshida MC, Satoh H, Hilgers J, Yaoita Y and Honjo T.
  TITLE     Chromosomal mapping of the mouse IL-4 and human IL-5 genes
  JOURNAL   Genomics 4 (1), 47-52 (1989)
   PUBMED   2563351
REFERENCE   9  (bases 1 to 815)
  AUTHORS   Tanabe T, Konishi M, Mizuta T, Noma T and Honjo T.
  TITLE     Molecular cloning and structure of the human interleukin-5 gene
  JOURNAL   J Biol Chem 262 (34), 16580-16584 (1987)
   PUBMED   2824500
REFERENCE   10  (bases 1 to 815)
  AUTHORS   Campbell HD, Tucker WQ, Hort Y, Martinson ME, Mayo G, Clutterbuck
            EJ, Sanderson CJ and Young IG.
  TITLE     Molecular cloning, nucleotide sequence, and expression of the gene
            encoding human eosinophil differentiation factor (interleukin 5)
  JOURNAL   Proc Natl Acad Sci U S A 84 (19), 6629-6633 (1987)
   PUBMED   3498940
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X04688.1, X12705.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000231454.6/ ENSP00000231454.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC116366.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 25, 2018 this sequence version replaced NM_000879.2.
            Summary: This gene encodes a cytokine that acts as a growth and
            differentiation factor for both B cells and eosinophils. The
            encoded cytokine plays a major role in the regulation of eosinophil
            formation, maturation, recruitment and survival. The increased
            production of this cytokine may be related to pathogenesis of
            eosinophil-dependent inflammatory diseases. This cytokine functions
            by binding to its receptor, which is a heterodimer, whose beta
            subunit is shared with the receptors for interleukine 3 (IL3) and
            colony stimulating factor 2 (CSF2/GM-CSF). This gene is located on
            chromosome 5 within a cytokine gene cluster which includes
            interleukin 4 (IL4), interleukin 13 (IL13), and CSF2 . This gene,
            IL4, and IL13 may be regulated coordinately by long-range
            regulatory elements spread over 120 kilobases on chromosome 5q31.
            [provided by RefSeq, Jul 2013].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..815
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..815
                     /gene="IL5"
                     /gene_synonym="EDF; IL-5; TRF"
                     /note="interleukin 5"
                     /db_xref="GeneID:3567"
                     /db_xref="HGNC:HGNC:6016"
                     /db_xref="MIM:147850"
     CDS             45..449
                     /gene="IL5"
                     /gene_synonym="EDF; IL-5; TRF"
                     /note="eosinophil differentiation factor; T-cell replacing
                     factor; B-cell differentiation factor I; colony-stimulating
                     factor, eosinophil"
                     /codon_start=1
                     /product="interleukin-5 precursor"
                     /protein_id="NP_000870.1"
                     /db_xref="CCDS:CCDS4156.1"
                     /db_xref="GeneID:3567"
                     /db_xref="HGNC:HGNC:6016"
                     /db_xref="MIM:147850"
                     /translation="MRMLLHLSLLALGAAYVYAIPTEIPTSALVKETLALLSTHRTLLI
                     ANETLRIPVPVHKNHQLCTEEIFQGIGTLESQTVQGGTVERLFKNLSLIKKYIDGQKKK
                     CGEERRRVNQFLDYLQEFLGVMNTEWIIES"
     sig_peptide     45..101
                     /gene="IL5"
                     /gene_synonym="EDF; IL-5; TRF"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     102..446
                     /gene="IL5"
                     /gene_synonym="EDF; IL-5; TRF"
                     /product="interleukin-5"
     misc_feature    108..110
                     /gene="IL5"
                     /gene_synonym="EDF; IL-5; TRF"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:2361960; propagated from
                     UniProtKB/Swiss-Prot (P05113.1); glycosylation site"
     misc_feature    183..185
                     /gene="IL5"
                     /gene_synonym="EDF; IL-5; TRF"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000305|PubMed:2361960; propagated from
                     UniProtKB/Swiss-Prot (P05113.1); glycosylation site"
     misc_feature    312..314
                     /gene="IL5"
                     /gene_synonym="EDF; IL-5; TRF"
                     /note="Not glycosylated.
                     /evidence=ECO:0000269|PubMed:2361960; propagated from
                     UniProtKB/Swiss-Prot (P05113.1); other site"
     regulatory      791..796
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL5"
                     /gene_synonym="EDF; IL-5; TRF"
                     /note="hexamer: AATAAA"
     polyA_site      815
                     /gene="IL5"
                     /gene_synonym="EDF; IL-5; TRF"
                     /note="major polyA site"
ORIGIN
        1 atgcactttc tttgccaaag gcaaacgcag aacgtttcag agccatgagg atgcttctgc
       61 atttgagttt gctagctctt ggagctgcct acgtgtatgc catccccaca gaaattccca
      121 caagtgcatt ggtgaaagag accttggcac tgctttctac tcatcgaact ctgctgatag
      181 ccaatgagac tctgaggatt cctgttcctg tacataaaaa tcaccaactg tgcactgaag
      241 aaatctttca gggaataggc acactggaga gtcaaactgt gcaagggggt actgtggaaa
      301 gactattcaa aaacttgtcc ttaataaaga aatacattga cggccaaaaa aaaaagtgtg
      361 gagaagaaag acggagagta aaccaattcc tagactacct gcaagagttt cttggtgtaa
      421 tgaacaccga gtggataata gaaagttgag actaaactgg tttgttgcag ccaaagattt
      481 tggaggagaa ggacatttta ctgcagtgag aatgagggcc aagaaagagt caggccttaa
      541 ttttcagtat aatttaactt cagagggaaa gtaaatattt caggcatact gacactttgc
      601 cagaaagcat aaaattctta aaatatattt cagatatcag aatcattgaa gtattttcct
      661 ccaggcaaaa ttgatatact tttttcttat ttaacttaac attctgtaaa atgtctgtta
      721 acttaatagt atttatgaaa tggttaagaa tttggtaaat tagtatttat ttaatgttat
      781 gttgtgttct aataaaacaa aaatagacaa ctgtt
//
LOCUS       NM_000880               2016 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.
ACCESSION   NM_000880
VERSION     NM_000880.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2016)
  AUTHORS   Hesari M, Attar Z, Soltani-Shirazi S, Keshavarzian O, Taheri R,
            Tabrizi R and Fouladseresht H.
  TITLE     The Therapeutic Values of IL-7/IL-7R and the Recombinant Derivatives
            in Glioma: A Narrative Review
  JOURNAL   J Interferon Cytokine Res 43 (8), 319-334 (2023)
   PUBMED   37566474
  REMARK    GeneRIF: The Therapeutic Values of IL-7/IL-7R and the Recombinant
            Derivatives in Glioma: A Narrative Review. Review article
REFERENCE   2  (bases 1 to 2016)
  AUTHORS   Martin-Nares E, Hernandez-Molina G, Lima G, Hernandez-Ramirez DF,
            Chan-Campos I, Saavedra-Gonzalez V and Llorente L.
  TITLE     Tear levels of IL-7, IL-1alpha, and IL-1beta may differentiate
            between IgG4-related disease and Sjogren's syndrome
  JOURNAL   Clin Rheumatol 42 (4), 1101-1105 (2023)
   PUBMED   36627528
  REMARK    GeneRIF: Tear levels of IL-7, IL-1alpha, and IL-1beta may
            differentiate between IgG4-related disease and Sjogren's syndrome.
REFERENCE   3  (bases 1 to 2016)
  AUTHORS   Issaoui H and Ricci JE.
  TITLE     IL-7 germline variant: setting the stage for immune-related adverse
            events
  JOURNAL   Mol Oncol 17 (3), 384-386 (2023)
   PUBMED   36748568
  REMARK    GeneRIF: IL-7 germline variant: setting the stage for immune-related
            adverse events.
REFERENCE   4  (bases 1 to 2016)
  AUTHORS   Fernandes MB and Barata JT.
  TITLE     IL-7 and IL-7R in health and disease: An update through COVID times
  JOURNAL   Adv Biol Regul 87, 100940 (2023)
   PUBMED   36503870
  REMARK    GeneRIF: IL-7 and IL-7R in health and disease: An update through
            COVID times. Review article
REFERENCE   5  (bases 1 to 2016)
  AUTHORS   Taylor CA, Watson RA, Tong O, Ye W, Nassiri I, Gilchrist JJ, de Los
            Aires AV, Sharma PK, Koturan S, Cooper RA, Woodcock VK, Jungkurth E,
            Shine B, Coupe N, Payne MJ, Church DN, Naranbhai V, Groha S, Emery
            P, Mankia K, Freedman ML, Choueiri TK, Middleton MR, Gusev A and
            Fairfax BP.
  TITLE     IL7 genetic variation and toxicity to immune checkpoint blockade in
            patients with melanoma
  JOURNAL   Nat Med 28 (12), 2592-2600 (2022)
   PUBMED   36526722
  REMARK    GeneRIF: IL7 genetic variation and toxicity to immune checkpoint
            blockade in patients with melanoma.
REFERENCE   6  (bases 1 to 2016)
  AUTHORS   Chi Y, Ge Y, Wu B, Zhang W, Wu T, Wen T, Liu J, Guo X, Huang C, Jiao
            Y, Zhu F, Zhu B and Cui L.
  TITLE     Serum Cytokine and Chemokine Profile in Relation to the Severity of
            Coronavirus Disease 2019 in China
  JOURNAL   J Infect Dis 222 (5), 746-754 (2020)
   PUBMED   32563194
REFERENCE   7  (bases 1 to 2016)
  AUTHORS   Lupton SD, Gimpel S, Jerzy R, Brunton LL, Hjerrild KA, Cosman D and
            Goodwin RG.
  TITLE     Characterization of the human and murine IL-7 genes
  JOURNAL   J Immunol 144 (9), 3592-3601 (1990)
   PUBMED   2329282
REFERENCE   8  (bases 1 to 2016)
  AUTHORS   Brunton LL and Lupton SD.
  TITLE     An STS in the human IL7 gene located at 8q12-13
  JOURNAL   Nucleic Acids Res 18 (5), 1315 (1990)
   PUBMED   2320434
  REMARK    Erratum:[Nucleic Acids Res 1990 May 11;18(9):2852]
REFERENCE   9  (bases 1 to 2016)
  AUTHORS   Sutherland GR, Baker E, Fernandez KE, Callen DF, Goodwin RG, Lupton
            S, Namen AE, Shannon MF and Vadas MA.
  TITLE     The gene for human interleukin 7 (IL7) is at 8q12-13
  JOURNAL   Hum Genet 82 (4), 371-372 (1989)
   PUBMED   2786840
REFERENCE   10  (bases 1 to 2016)
  AUTHORS   Goodwin RG, Lupton S, Schmierer A, Hjerrild KJ, Jerzy R, Clevenger
            W, Gillis S, Cosman D and Namen AE.
  TITLE     Human interleukin 7: molecular cloning and growth factor activity on
            human and murine B-lineage cells
  JOURNAL   Proc Natl Acad Sci U S A 86 (1), 302-306 (1989)
   PUBMED   2643102
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC047698.1, SRR1660805.214593.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145774
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in cytokine storm inflammatory
            response
            MANE Ensembl match          :: ENST00000263851.9/ ENSP00000263851.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291538.1, J04156.1 and
            BC047698.1.
            On Nov 22, 2018 this sequence version replaced NM_000880.3.
            Summary: The protein encoded by this gene is a cytokine important
            for B and T cell development. This cytokine and the hepatocyte
            growth factor (HGF) form a heterodimer that functions as a
            pre-pro-B cell growth-stimulating factor. IL7 is found to be a
            cofactor for V(D)J rearrangement of the T cell receptor beta (TCRB)
            during early T cell development. This cytokine can be produced
            locally by intestinal epithelial and epithelial goblet cells, and
            may serve as a regulatory factor for intestinal mucosal
            lymphocytes. IL7 plays an essential role in lymphoid cell survival,
            and in the maintenance of naive and memory T cells. Alternative
            splicing results in multiple transcript variants encoding distinct
            isoforms. Additional splice variants have been described but their
            presence in normal tissues has not been confirmed. Severe acute
            respiratory syndrome coronavirus 2 (SARS-CoV-2) infection can be a
            potent inducer of proinflammatory cytokines and chemokines which
            may defend against the infection, but may also mediate destructive
            lung injury. Elevated serum IL7 levels, together with several other
            circulating cytokines and chemokines, has been found to be
            associated with the severity of Coronavirus Disease 19 (COVID-19).
            [provided by RefSeq, Jul 2020].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2016
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.13"
     gene            1..2016
                     /gene="IL7"
                     /gene_synonym="IL-7"
                     /note="interleukin 7"
                     /db_xref="GeneID:3574"
                     /db_xref="HGNC:HGNC:6023"
                     /db_xref="MIM:146660"
     misc_feature    470..472
                     /gene="IL7"
                     /gene_synonym="IL-7"
                     /note="upstream in-frame stop codon"
     CDS             542..1075
                     /gene="IL7"
                     /gene_synonym="IL-7"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1"
                     /codon_start=1
                     /product="interleukin-7 isoform 1 precursor"
                     /protein_id="NP_000871.1"
                     /db_xref="CCDS:CCDS6224.1"
                     /db_xref="GeneID:3574"
                     /db_xref="HGNC:HGNC:6023"
                     /db_xref="MIM:146660"
                     /translation="MFHVSFRYIFGLPPLILVLLPVASSDCDIEGKDGKQYESVLMVSI
                     DQLLDSMKEIGSNCLNNEFNFFKRHICDANKEGMFLFRAARKLRQFLKMNSTGDFDLHL
                     LKVSEGTTILLNCTGQVKGRKPAALGEAQPTKSLEENKSLKEQKKLNDLCFLKRLLQEI
                     KTCWNKILMGTKEH"
     sig_peptide     542..616
                     /gene="IL7"
                     /gene_synonym="IL-7"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     617..1072
                     /gene="IL7"
                     /gene_synonym="IL-7"
                     /product="interleukin-7 isoform 1"
     misc_feature    824..826
                     /gene="IL7"
                     /gene_synonym="IL-7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P13232.1); glycosylation site"
     misc_feature    887..889
                     /gene="IL7"
                     /gene_synonym="IL-7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P13232.1); glycosylation site"
     misc_feature    962..964
                     /gene="IL7"
                     /gene_synonym="IL-7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P13232.1); glycosylation site"
     regulatory      1403..1408
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL7"
                     /gene_synonym="IL-7"
                     /note="hexamer: ATTAAA"
     polyA_site      1421
                     /gene="IL7"
                     /gene_synonym="IL-7"
                     /note="major polyA site"
     regulatory      1755..1760
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL7"
                     /gene_synonym="IL-7"
                     /note="hexamer: AATAAA"
     polyA_site      1789
                     /gene="IL7"
                     /gene_synonym="IL-7"
     regulatory      1996..2001
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL7"
                     /gene_synonym="IL-7"
                     /note="hexamer: AATAAA"
     polyA_site      2016
                     /gene="IL7"
                     /gene_synonym="IL-7"
                     /note="major polyA site"
ORIGIN
        1 acacttgtgg cttccgtgca cacattaaca actcatggtt ctagctccca gtcgccaagc
       61 gttgccaagg cgttgagaga tcatctggga agtcttttac ccagaattgc tttgattcag
      121 gccagctggt ttttcctgcg gtgattcgga aattcgcgaa ttcctctggt cctcatccag
      181 gtgcgcggga agcaggtgcc caggagagag gggataatga agattccatg ctgatgatcc
      241 caaagattga acctgcagac caagcgcaaa gtagaaactg aaagtacact gctggcggat
      301 cctacggaag ttatggaaaa ggcaaagcgc agagccacgc cgtagtgtgt gccgcccccc
      361 ttgggatgga tgaaactgca gtcgcggcgt gggtaagagg aaccagctgc agagatcacc
      421 ctgcccaaca cagactcggc aactccgcgg aagaccaggg tcctgggagt gactatgggc
      481 ggtgagagct tgctcctgct ccagttgcgg tcatcatgac tacgcccgcc tcccgcagac
      541 catgttccat gtttctttta ggtatatctt tggacttcct cccctgatcc ttgttctgtt
      601 gccagtagca tcatctgatt gtgatattga aggtaaagat ggcaaacaat atgagagtgt
      661 tctaatggtc agcatcgatc aattattgga cagcatgaaa gaaattggta gcaattgcct
      721 gaataatgaa tttaactttt ttaaaagaca tatctgtgat gctaataagg aaggtatgtt
      781 tttattccgt gctgctcgca agttgaggca atttcttaaa atgaatagca ctggtgattt
      841 tgatctccac ttattaaaag tttcagaagg cacaacaata ctgttgaact gcactggcca
      901 ggttaaagga agaaaaccag ctgccctggg tgaagcccaa ccaacaaaga gtttggaaga
      961 aaataaatct ttaaaggaac agaaaaaact gaatgacttg tgtttcctaa agagactatt
     1021 acaagagata aaaacttgtt ggaataaaat tttgatgggc actaaagaac actgaaaaat
     1081 atggagtggc aatatagaaa cacgaacttt agctgcatcc tccaagaatc tatctgctta
     1141 tgcagttttt cagagtggaa tgcttcctag aagttactga atgcaccatg gtcaaaacgg
     1201 attagggcat ttgagaaatg catattgtat tactagaaga tgaatacaaa caatggaaac
     1261 tgaatgctcc agtcaacaaa ctatttctta tatatgtgaa catttatcaa tcagtataat
     1321 tctgtactga tttttgtaag acaatccatg taaggtatca gttgcaataa tacttctcaa
     1381 acctgtttaa atatttcaag acattaaatc tatgaagtat ataatggttt caaagattca
     1441 aaattgacat tgctttactg tcaaaataat tttatggctc actatgaatc tattatactg
     1501 tattaagagt gaaaattgtc ttcttctgtg ctggagatgt tttagagtta acaatgatat
     1561 atggataatg ccggtgagaa taagagagtc ataaacctta agtaagcaac agcataacaa
     1621 ggtccaagat acctaaaaga gatttcaaga gatttaatta atcatgaatg tgtaacacag
     1681 tgccttcaat aaatggtata gcaaatgttt tgacatgaaa aaaggacaat ttcaaaaaaa
     1741 taaaataaaa taaaaataaa ttcacctagt ctaaggatgc taaaccttag tactgagtta
     1801 cattgtcatt tatatagatt ataacttgtc taaataagtt tgcaatttgg gagatatatt
     1861 tttaagataa taatatatgt ttacctttta attaatgaaa tatctgtatt taattttgac
     1921 actatatctg tatataaaat attttcatac agcattacaa attgcttact ttggaataca
     1981 tttctccttt gataaaataa atgagctatg tattaa
//
LOCUS       NM_000883               2611 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens inosine monophosphate dehydrogenase 1 (IMPDH1),
            transcript variant 1, mRNA.
ACCESSION   NM_000883
VERSION     NM_000883.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2611)
  AUTHORS   Sakti DH, Cornish EE, Nash BM, Jamieson RV and Grigg JR.
  TITLE     IMPDH1-associated autosomal dominant retinitis pigmentosa: natural
            history of novel variant Lys314Gln and a comprehensive literature
            search
  JOURNAL   Ophthalmic Genet 44 (5), 437-455 (2023)
   PUBMED   37259572
  REMARK    GeneRIF: IMPDH1-associated autosomal dominant retinitis pigmentosa:
            natural history of novel variant Lys314Gln and a comprehensive
            literature search. Review article
REFERENCE   2  (bases 1 to 2611)
  AUTHORS   Zhang Q, Cui K, Yang X, He Q, Yu J, Yang L, Yao G, Guo W, Luo Z, Liu
            Y, Chen Y, He Z and Lan P.
  TITLE     c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating GTP
            metabolic reprogramming
  JOURNAL   Clin Transl Med 13 (1), e1164 (2023)
   PUBMED   36629054
  REMARK    GeneRIF: c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating
            GTP metabolic reprogramming.
REFERENCE   3  (bases 1 to 2611)
  AUTHORS   Liu C, Zhang W, Zhou X and Liu L.
  TITLE     IMPDH1, a prognostic biomarker and immunotherapy target that
            correlates with tumor immune microenvironment in pan-cancer and
            hepatocellular carcinoma
  JOURNAL   Front Immunol 13, 983490 (2022)
   PUBMED   36618420
  REMARK    GeneRIF: IMPDH1, a prognostic biomarker and immunotherapy target
            that correlates with tumor immune microenvironment in pan-cancer and
            hepatocellular carcinoma. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2611)
  AUTHORS   Zhao JZ, Wang W, Liu T, Zhang L, Lin DZ, Yao JY, Peng X, Jin G, Ma
            TT, Gao JB, Huang F, Nie J and Lv Q.
  TITLE     MYBL2 regulates de novo purine synthesis by transcriptionally
            activating IMPDH1 in hepatocellular carcinoma cells
  JOURNAL   BMC Cancer 22 (1), 1290 (2022)
   PUBMED   36494680
  REMARK    GeneRIF: MYBL2 regulates de novo purine synthesis by
            transcriptionally activating IMPDH1 in hepatocellular carcinoma
            cells. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2611)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   30285347
REFERENCE   6  (bases 1 to 2611)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
REFERENCE   7  (bases 1 to 2611)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301475
REFERENCE   8  (bases 1 to 2611)
  AUTHORS   Collart FR, Chubb CB, Mirkin BL and Huberman E.
  TITLE     Increased inosine-5'-phosphate dehydrogenase gene expression in
            solid tumor tissues and tumor cell lines
  JOURNAL   Cancer Res 52 (20), 5826-5828 (1992)
   PUBMED   1356621
REFERENCE   9  (bases 1 to 2611)
  AUTHORS   Zalkin H and Dixon JE.
  TITLE     De novo purine nucleotide biosynthesis
  JOURNAL   Prog Nucleic Acid Res Mol Biol 42, 259-287 (1992)
   PUBMED   1574589
  REMARK    Review article
REFERENCE   10  (bases 1 to 2611)
  AUTHORS   Natsumeda Y, Ohno S, Kawasaki H, Konno Y, Weber G and Suzuki K.
  TITLE     Two distinct cDNAs for human IMP dehydrogenase
  JOURNAL   J Biol Chem 265 (9), 5292-5295 (1990)
   PUBMED   1969416
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: J05272.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000338791.11/ ENSP00000345096.6
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA566139.1, DC326380.1,
            AK092452.1, AK122994.1 and CD014010.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000883.3.
            Summary: The protein encoded by this gene acts as a homotetramer to
            regulate cell growth. The encoded protein is an enzyme that
            catalyzes the synthesis of xanthine monophosphate (XMP) from
            inosine-5'-monophosphate (IMP). This is the rate-limiting step in
            the de novo synthesis of guanine nucleotides. Defects in this gene
            are a cause of retinitis pigmentosa type 10 (RP10). Several
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Dec 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2611
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.1"
     gene            1..2611
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10; sWSS2608"
                     /note="inosine monophosphate dehydrogenase 1"
                     /db_xref="GeneID:3614"
                     /db_xref="HGNC:HGNC:6052"
                     /db_xref="MIM:146690"
     CDS             82..1881
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10; sWSS2608"
                     /EC_number="1.1.1.205"
                     /note="isoform a is encoded by transcript variant 1; IMP
                     (inosine monophosphate) dehydrogenase 1;
                     inosine-5'-monophosphate dehydrogenase 1; IMPD 1; IMPDH 1;
                     IMP (inosine 5'-monophosphate) dehydrogenase 1"
                     /codon_start=1
                     /product="inosine-5'-monophosphate dehydrogenase 1 isoform
                     a"
                     /protein_id="NP_000874.2"
                     /db_xref="CCDS:CCDS34749.1"
                     /db_xref="GeneID:3614"
                     /db_xref="HGNC:HGNC:6052"
                     /db_xref="MIM:146690"
                     /translation="MEGPLTPPPLQGGGAAAVPEPGARQHPGHETAAQRYSARLLQAGY
                     EPESPRLDLATHPTTPRSELSSVVLLAGVGVQMDRLRRASMADYLISGGTGYVPEDGLT
                     AQQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPMDTVTEADM
                     AIAMALMGGIGFIHHNCTPEFQANEVRKVKKFEQGFITDPVVLSPSHTVGDVLEAKMRH
                     GFSGIPITETGTMGSKLVGIVTSRDIDFLAEKDHTTLLSEVMTPRIELVVAPAGVTLKE
                     ANEILQRSKKGKLPIVNDCDELVAIIARTDLKKNRDYPLASKDSQKQLLCGAAVGTRED
                     DKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVVTAAQAKNLI
                     DAGVDGLRVGMGCGSICITQEVMACGRPQGTAVYKVAEYARRFGVPIIADGGIQTVGHV
                     VKALALGASTVMMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAMEKSSSSQKRYFS
                     EGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLRSMMYSGELKFE
                     KRTMSAQIEGGVHGLHSYEKRLY"
     regulatory      2580..2585
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10; sWSS2608"
                     /note="hexamer: AATAAA"
     polyA_site      2604
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10; sWSS2608"
                     /note="major polyA site"
ORIGIN
        1 actcgaccgg gctgcgctca ctgcccagcc ggggccccgg gagcctccag gctcccgccc
       61 gccctgagct gcggcctccg catggagggg ccactcactc caccaccgct gcagggaggc
      121 ggagccgccg ctgttccgga gcccggagcc cggcaacacc cgggacacga gacggcggcg
      181 cagcggtaca gcgcccgact gctgcaggcc ggctacgagc ccgagagccc tagattggac
      241 ctcgctacac acccgacgac accccgttca gaactatctt cagtggtctt actggcaggt
      301 gttggtgtcc agatggatcg ccttcgcagg gctagcatgg cggactacct gatcagcggc
      361 ggcaccggct acgtgcccga ggatgggctc accgcgcagc agctcttcgc cagcgccgac
      421 ggcctcacct acaacgactt cctgattctc ccaggattca tagacttcat agctgatgag
      481 gtggacctga cctcagccct gacccggaag atcacgctga agacgccact gatctcctcc
      541 cccatggaca ctgtgacaga ggctgacatg gccattgcca tggctctgat gggaggtatt
      601 ggtttcattc accacaactg caccccagag ttccaggcca acgaggtgcg gaaggtcaag
      661 aagtttgaac agggcttcat cacggaccct gtggtgctga gcccctcgca cactgtgggc
      721 gatgtgctgg aggccaagat gcggcatggc ttctctggca tccccatcac tgagacgggc
      781 accatgggca gcaagctggt gggcatcgtc acctcccgag acatcgactt tcttgctgag
      841 aaggaccaca ccaccctcct cagtgaggtg atgacgccaa ggattgaact ggtggtggct
      901 ccagcaggtg tgacgttgaa agaggcaaat gagatcctgc agcgtagcaa gaaagggaag
      961 ctgcctatcg tcaatgattg cgatgagctg gtggccatca tcgcccgcac cgacctgaag
     1021 aagaaccgag actaccctct ggcctccaag gattcccaga agcagctgct ctgtggggca
     1081 gctgtgggca cccgtgagga tgacaaatac cgtctggacc tgctcaccca ggcgggcgtc
     1141 gacgtcatag tcttggactc gtcccaaggg aattcggtgt atcagatcgc catggtgcat
     1201 tacatcaaac agaagtaccc ccacctccag gtgattgggg ggaacgtggt gacagcagcc
     1261 caggccaaga acctgattga tgctggtgtg gacgggctgc gcgtgggcat gggctgcggc
     1321 tccatctgca tcacccagga agtgatggcc tgtggtcggc cccagggcac tgctgtgtac
     1381 aaggtggctg agtatgcccg gcgctttggt gtgcccatca tagccgatgg cggcatccag
     1441 accgtgggac acgtggtcaa ggccctggcc cttggagcct ccacagtgat gatgggctcc
     1501 ctgctggccg ccactacgga ggcccctggc gagtacttct tctcagacgg ggtgcggctc
     1561 aagaagtacc ggggcatggg ctcactggat gccatggaga agagcagcag cagccagaaa
     1621 cgatacttca gcgaggggga taaagtgaag atcgcgcagg gtgtctcggg ctccatccag
     1681 gacaaaggat ccattcagaa gttcgtgccc tacctcatag caggcatcca acacggctgc
     1741 caggatatcg gggcccgcag cctgtctgtc cttcggtcca tgatgtactc aggagagctc
     1801 aagtttgaga agcggaccat gtcggcccag attgagggtg gtgtccatgg cctgcactct
     1861 tacgaaaagc ggctgtactg aggacagcgg tggaggccga ggtggtggag gggatgcacc
     1921 ccagtgtcca cttttgggca cagcctccct ccataactga gtggtccaca gatttgcact
     1981 acgggttctc cagctccttt ccaggcagag aggaggggag gtcctgaggg gactgctgcc
     2041 cctcactcgg catcccctgc agagtcagga ctgctcccgg ggccaggctg ccctgggagc
     2101 ccccctccga gcccagccag ccaggctctc aggccctgcg cctgcctcag gtctttcttg
     2161 ctgcagcctg ctccagcctg gcccccaccc caggggcagg cggcccctcc tggcttctcc
     2221 tgtagggcac ctccctgccc ctagcctccc aggaaatggt gctctcctgg ccctgcctct
     2281 ggcccttccc gggccgctgc ccctcagcca tgtggcactt ctgagctcct gacctaggcc
     2341 aaggggaggt ctctgccccc ttccccggcc ctgggctacc cttgggtcct gctcctcagg
     2401 ccgctcccct gtccctggcc atgggtagga gactgccctg gtcatggccg cctgcctgtc
     2461 attcctgact caccaccgtc cccaggtgaa ccattcctcc cttctcctca gctgcagtcg
     2521 aaggctttaa ctttgcacac ttgggatcac agttgcgtca ttgtgtatta aatacttgga
     2581 ataaatcaag caggtctcaa cgcctccact a
//
LOCUS       NM_000884               1651 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens inosine monophosphate dehydrogenase 2 (IMPDH2),
            transcript variant 2, mRNA.
ACCESSION   NM_000884
VERSION     NM_000884.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1651)
  AUTHORS   O'Neill AG, Burrell AL, Zech M, Elpeleg O, Harel T, Edvardson S,
            Mor-Shaked H, Rippert AL, Nomakuchi T, Izumi K and Kollman JM.
  TITLE     Neurodevelopmental disorder mutations in the purine biosynthetic
            enzyme IMPDH2 disrupt its allosteric regulation
  JOURNAL   J Biol Chem 299 (8), 105012 (2023)
   PUBMED   37414152
  REMARK    GeneRIF: Neurodevelopmental disorder mutations in the purine
            biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
REFERENCE   2  (bases 1 to 1651)
  AUTHORS   Lin J, Li C, Cui Y, Hou Y, Zhang L, Ou R, Wei Q, Liu K, Yang T, Xiao
            Y, Jiang Q, Zhao B, Yang J, Chen X and Shang H.
  TITLE     Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese
            population
  JOURNAL   J Neurol 270 (4), 2197-2203 (2023)
   PUBMED   36648520
  REMARK    GeneRIF: Rare variants in IMPDH2 cause autosomal dominant dystonia
            in Chinese population.
REFERENCE   3  (bases 1 to 1651)
  AUTHORS   Chen PS, Wu MC, Tai CH, Chang YY, Lan MY, Chen YF, Lin HI, Lee NC
            and Lin CH.
  TITLE     Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated
            or combined dystonia
  JOURNAL   Parkinsonism Relat Disord 107, 105294 (2023)
   PUBMED   36657279
  REMARK    GeneRIF: Genetic analysis of IMPDH2 gene in Taiwanese patients with
            isolated or combined dystonia.
REFERENCE   4  (bases 1 to 1651)
  AUTHORS   Zhang Q, Cui K, Yang X, He Q, Yu J, Yang L, Yao G, Guo W, Luo Z, Liu
            Y, Chen Y, He Z and Lan P.
  TITLE     c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating GTP
            metabolic reprogramming
  JOURNAL   Clin Transl Med 13 (1), e1164 (2023)
   PUBMED   36629054
  REMARK    GeneRIF: c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating
            GTP metabolic reprogramming.
REFERENCE   5  (bases 1 to 1651)
  AUTHORS   Li TW, Kenney AD, Park JG, Fiches GN, Liu H, Zhou D, Biswas A, Zhao
            W, Que J, Santoso N, Martinez-Sobrido L, Yount JS and Zhu J.
  TITLE     SARS-CoV-2 Nsp14 protein associates with IMPDH2 and activates
            NF-kappaB signaling
  JOURNAL   Front Immunol 13, 1007089 (2022)
   PUBMED   36177032
  REMARK    GeneRIF: SARS-CoV-2 Nsp14 protein associates with IMPDH2 and
            activates NF-kappaB signaling. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1651)
  AUTHORS   Hager PW, Collart FR, Huberman E and Mitchell BS.
  TITLE     Recombinant human inosine monophosphate dehydrogenase type I and
            type II proteins. Purification and characterization of inhibitor
            binding
  JOURNAL   Biochem Pharmacol 49 (9), 1323-1329 (1995)
   PUBMED   7763314
REFERENCE   7  (bases 1 to 1651)
  AUTHORS   Zimmermann AG, Spychala J and Mitchell BS.
  TITLE     Characterization of the human inosine-5'-monophosphate dehydrogenase
            type II gene
  JOURNAL   J Biol Chem 270 (12), 6808-6814 (1995)
   PUBMED   7896827
REFERENCE   8  (bases 1 to 1651)
  AUTHORS   Zalkin H and Dixon JE.
  TITLE     De novo purine nucleotide biosynthesis
  JOURNAL   Prog Nucleic Acid Res Mol Biol 42, 259-287 (1992)
   PUBMED   1574589
  REMARK    Review article
REFERENCE   9  (bases 1 to 1651)
  AUTHORS   Natsumeda Y, Ohno S, Kawasaki H, Konno Y, Weber G and Suzuki K.
  TITLE     Two distinct cDNAs for human IMP dehydrogenase
  JOURNAL   J Biol Chem 265 (9), 5292-5295 (1990)
   PUBMED   1969416
REFERENCE   10  (bases 1 to 1651)
  AUTHORS   Collart FR and Huberman E.
  TITLE     Cloning and sequence analysis of the human and Chinese hamster
            inosine-5'-monophosphate dehydrogenase cDNAs
  JOURNAL   J Biol Chem 263 (30), 15769-15772 (1988)
   PUBMED   2902093
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: GQ900937.1, BC006124.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000326739.9/ ENSP00000321584.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC137630.9, J04208.1 and
            BC009236.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000884.2.
            Summary: This gene encodes the rate-limiting enzyme in the de novo
            guanine nucleotide biosynthesis. It is thus involved in maintaining
            cellular guanine deoxy- and ribonucleotide pools needed for DNA and
            RNA synthesis. The encoded protein catalyzes the NAD-dependent
            oxidation of inosine-5'-monophosphate into
            xanthine-5'-monophosphate, which is then converted into
            guanosine-5'-monophosphate. This gene is up-regulated in some
            neoplasms, suggesting it may play a role in malignant
            transformation. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1651
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1651
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /note="inosine monophosphate dehydrogenase 2"
                     /db_xref="GeneID:3615"
                     /db_xref="HGNC:HGNC:6053"
                     /db_xref="MIM:146691"
     CDS             49..1593
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /EC_number="1.1.1.205"
                     /note="isoform 2 is encoded by transcript variant 2; IMP
                     (inosine monophosphate) dehydrogenase 2; IMP oxireductase
                     2; epididymis secretory sperm binding protein; IMP
                     dehydrogenase II; inosine-5'-monophosphate dehydrogenase
                     type II; inosine 5' phosphate dehydrogenase 2;
                     inosine-5'-monophosphate dehydrogenase 2; IMP (inosine
                     5'-monophosphate) dehydrogenase 2; inosine monophosphate
                     dehydrogenase type II; IMPD 2; IMPDH 2"
                     /codon_start=1
                     /product="inosine-5'-monophosphate dehydrogenase 2 isoform
                     2"
                     /protein_id="NP_000875.2"
                     /db_xref="CCDS:CCDS2786.1"
                     /db_xref="GeneID:3615"
                     /db_xref="HGNC:HGNC:6053"
                     /db_xref="MIM:146691"
                     /translation="MADYLISGGTSYVPDDGLTAQQLFNCGDGLTYNDFLILPGYIDFT
                     ADQVDLTSALTKKITLKTPLVSSPMDTVTEAGMAIAMALTGGIGFIHHNCTPEFQANEV
                     RKVKKYEQGFITDPVVLSPKDRVRDVFEAKARHGFCGIPITDTGRMGSRLVGIISSRDI
                     DFLKEEEHDCFLEEIMTKREDLVVAPAGITLKEANEILQRSKKGKLPIVNEDDELVAII
                     ARTDLKKNRDYPLASKDAKKQLLCGAAIGTHEDDKYRLDLLAQAGVDVVVLDSSQGNSI
                     FQINMIKYIKDKYPNLQVIGGNVVTAAQAKNLIDAGVDALRVGMGSGSICITQEVLACG
                     RPQATAVYKVSEYARRFGVPVIADGGIQNVGHIAKALALGASTVMMGSLLAATTEAPGE
                     YFFSDGIRLKKYRGMGSLDAMDKHLSSQNRYFSEADKIKVAQGVSGAVQDKGSIHKFVP
                     YLIAGIQHSCQDIGAKSLTQVRAMMYSGELKFEKRTSSAQVEGGVHSLHSYEKRLF"
     misc_feature    412..414
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P12268.2);
                     phosphorylation site"
     misc_feature    526..528
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P12268.2); phosphorylation site"
     misc_feature    1246..1248
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455; propagated from
                     UniProtKB/Swiss-Prot (P12268.2); phosphorylation site"
     misc_feature    1294..1296
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P12268.2);
                     phosphorylation site"
     misc_feature    1579..1581
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P12268.2); acetylation site"
     regulatory      1629..1634
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /note="hexamer: AATAAA"
     polyA_site      1651
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /note="major polyA site"
ORIGIN
        1 ctctgcggcg cggtcctcgg agacacgcgg cggtgtcctg tgttggccat ggccgactac
       61 ctgattagtg ggggcacgtc ctacgtgcca gacgacggac tcacagcaca gcagctcttc
      121 aactgcggag acggcctcac ctacaatgac tttctcattc tccctgggta catcgacttc
      181 actgcagacc aggtggacct gacttctgct ctgaccaaga aaatcactct taagacccca
      241 ctggtttcct ctcccatgga cacagtcaca gaggctggga tggccatagc aatggcgctt
      301 acaggcggta ttggcttcat ccaccacaac tgtacacctg aattccaggc caatgaagtt
      361 cggaaagtga agaaatatga acagggattc atcacagacc ctgtggtcct cagccccaag
      421 gatcgcgtgc gggatgtttt tgaggccaag gcccggcatg gtttctgcgg tatcccaatc
      481 acagacacag gccggatggg gagccgcttg gtgggcatca tctcctccag ggacattgat
      541 tttctcaaag aggaggaaca tgactgtttc ttggaagaga taatgacaaa gagggaagac
      601 ttggtggtag cccctgcagg catcacactg aaggaggcaa atgaaattct gcagcgcagc
      661 aagaagggaa agttgcccat tgtaaatgaa gatgatgagc ttgtggccat cattgcccgg
      721 acagacctga agaagaatcg ggactaccca ctagcctcca aagatgccaa gaaacagctg
      781 ctgtgtgggg cagccattgg cactcatgag gatgacaagt ataggctgga cttgctcgcc
      841 caggctggtg tggatgtagt ggttttggac tcttcccagg gaaattccat cttccagatc
      901 aatatgatca agtacatcaa agacaaatac cctaatctcc aagtcattgg aggcaatgtg
      961 gtcactgctg cccaggccaa gaacctcatt gatgcaggtg tggatgccct gcgggtgggc
     1021 atgggaagtg gctccatctg cattacgcag gaagtgctgg cctgtgggcg gccccaagca
     1081 acagcagtgt acaaggtgtc agagtatgca cggcgctttg gtgttccggt cattgctgat
     1141 ggaggaatcc aaaatgtggg tcatattgcg aaagccttgg cccttggggc ctccacagtc
     1201 atgatgggct ctctcctggc tgccaccact gaggcccctg gtgaatactt cttttccgat
     1261 gggatccggc taaagaaata tcgcggtatg ggttctctcg atgccatgga caagcacctc
     1321 agcagccaga acagatattt cagtgaagct gacaaaatca aagtggccca gggagtgtct
     1381 ggtgctgtgc aggacaaagg gtcaatccac aaatttgtcc cttacctgat tgctggcatc
     1441 caacactcat gccaggacat tggtgccaag agcttgaccc aagtccgagc catgatgtac
     1501 tctggggagc ttaagtttga gaagagaacg tcctcagccc aggtggaagg tggcgtccat
     1561 agcctccatt cgtatgagaa gcggcttttc tgaaaaggga tccagcacac ctcctcggtt
     1621 tttttttcaa taaaagttta gaaagaaaaa a
//
LOCUS       NM_000885               6781 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens integrin subunit alpha 4 (ITGA4), transcript variant 1,
            mRNA.
ACCESSION   NM_000885
VERSION     NM_000885.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6781)
  AUTHORS   Elizabeth S, Aidan K, David OB, Deirdre W, Sarah B, Emer A, Kanthi
            P, Crotty GM, Aileen W, Michelle C, Ruth C, Hilary O, Ashique K,
            Bacon CL, Emily S, McElligott AM, Fiona Q, Elisabeth V and Carmel W.
  TITLE     Low CD49d expression in newly diagnosed chronic lymphocytic
            leukaemia may be associated with high-risk features and reduced
            treatment-free-intervals
  JOURNAL   Eur J Haematol 109 (5), 441-446 (2022)
   PUBMED   35776688
  REMARK    GeneRIF: Low CD49d expression in newly diagnosed chronic lymphocytic
            leukaemia may be associated with high-risk features and reduced
            treatment-free-intervals.
REFERENCE   2  (bases 1 to 6781)
  AUTHORS   Zhu J, Liu L, Chen X, Liu F, Zhao SS, Jin HM, Qiu HR, Qiao C, Li JY
            and Wu YJ.
  TITLE     [The correlation of CD49d expression pattern with molecular genetics
            and hotspot gene mutants in patients with chronic lymphocytic
            leukemia]
  JOURNAL   Zhonghua Xue Ye Xue Za Zhi 43 (6), 463-468 (2022)
   PUBMED   35968588
  REMARK    GeneRIF: [The correlation of CD49d expression pattern with molecular
            genetics and hotspot gene mutants in patients with chronic
            lymphocytic leukemia].
REFERENCE   3  (bases 1 to 6781)
  AUTHORS   Tissino E, Pivetta E, Capuano A, Capasso G, Bomben R, Caldana C,
            Rossi FM, Pozzo F, Benedetti D, Boldorini R, Gaidano G, Rossi D,
            Zamo A, Hartmann TN, Doliana R, Colombatti A, Gattei V, Spessotto P
            and Zucchetto A.
  TITLE     Elastin MIcrofibriL INterfacer1 (EMILIN-1) is an alternative
            prosurvival VLA-4 ligand in chronic lymphocytic leukemia
  JOURNAL   Hematol Oncol 40 (2), 181-190 (2022)
   PUBMED   34783040
  REMARK    GeneRIF: Elastin MIcrofibriL INterfacer1 (EMILIN-1) is an
            alternative prosurvival VLA-4 ligand in chronic lymphocytic
            leukemia.
REFERENCE   4  (bases 1 to 6781)
  AUTHORS   Berbert LR, Gonzalez FB, Villar SR, Vigliano C, Lioi S, Beloscar J,
            Bottasso OA, Silva-Barbosa SD, Savino W and Perez AR.
  TITLE     Enhanced Migratory Capacity of T Lymphocytes in Severe Chagasic
            Patients Is Correlated With VLA-4 and TNF-alpha Expression
  JOURNAL   Front Cell Infect Microbiol 11, 713150 (2021)
   PUBMED   34796122
  REMARK    GeneRIF: Enhanced Migratory Capacity of T Lymphocytes in Severe
            Chagasic Patients Is Correlated With VLA-4 and TNF-alpha Expression.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6781)
  AUTHORS   Shishido S, Bonig H and Kim YM.
  TITLE     Role of integrin alpha4 in drug resistance of leukemia
  JOURNAL   Front Oncol 4, 99 (2014)
   PUBMED   24904821
  REMARK    Review article Publication Status: Online-Only
REFERENCE   6  (bases 1 to 6781)
  AUTHORS   Rubio M, Nueda A, Vara A and Corbi Lopez AL.
  TITLE     A single mRNA encodes the alpha 150 and alpha 80/70 forms of the
            alpha subunit of VLA4
  JOURNAL   Eur J Immunol 22 (4), 1099-1102 (1992)
   PUBMED   1551405
REFERENCE   7  (bases 1 to 6781)
  AUTHORS   Parker CM, Cepek KL, Russell GJ, Shaw SK, Posnett DN, Schwarting R
            and Brenner MB.
  TITLE     A family of beta 7 integrins on human mucosal lymphocytes
  JOURNAL   Proc Natl Acad Sci U S A 89 (5), 1924-1928 (1992)
   PUBMED   1542691
REFERENCE   8  (bases 1 to 6781)
  AUTHORS   Fernandez-Ruiz E, Pardo-Manuel de Villena F, Rubio MA, Corbi AL,
            Rodriguez de Cordoba S and Sanchez-Madrid F.
  TITLE     Mapping of the human VLA-alpha 4 gene to chromosome 2q31-q32
  JOURNAL   Eur J Immunol 22 (2), 587-590 (1992)
   PUBMED   1537388
REFERENCE   9  (bases 1 to 6781)
  AUTHORS   Ryan DH, Nuccie BL, Abboud CN and Winslow JM.
  TITLE     Vascular cell adhesion molecule-1 and the integrin VLA-4 mediate
            adhesion of human B cell precursors to cultured bone marrow adherent
            cells
  JOURNAL   J Clin Invest 88 (3), 995-1004 (1991)
   PUBMED   1715889
REFERENCE   10  (bases 1 to 6781)
  AUTHORS   Takada Y, Elices MJ, Crouse C and Hemler ME.
  TITLE     The primary structure of the alpha 4 subunit of VLA-4: homology to
            other integrins and a possible cell-cell adhesion function
  JOURNAL   EMBO J 8 (5), 1361-1368 (1989)
   PUBMED   2788572
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X16983.1, L12002.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000397033.7/ ENSP00000380227.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020595.7.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000885.5.
            Summary: The gene encodes a member of the integrin alpha chain
            family of proteins. Integrins are heterodimeric integral membrane
            proteins composed of an alpha chain and a beta chain that function
            in cell surface adhesion and signaling. The encoded preproprotein
            is proteolytically processed to generate light and heavy chains
            that comprise the alpha 4 subunit. This subunit associates with a
            beta 1 or beta 7 subunit to form an integrin that may play a role
            in cell motility and migration. This integrin is a therapeutic
            target for the treatment of multiple sclerosis, Crohn's disease and
            inflammatory bowel disease. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Oct 2015].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6781
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.3"
     gene            1..6781
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="integrin subunit alpha 4"
                     /db_xref="GeneID:3676"
                     /db_xref="HGNC:HGNC:6140"
                     /db_xref="MIM:192975"
     CDS             270..3368
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; antigen CD49D, alpha-4 subunit of VLA-4
                     receptor; very late activation protein 4 receptor, alpha 4
                     subunit; 269C wild type; integrin alpha-IV; VLA-4 subunit
                     alpha; CD49 antigen-like family member D; alpha 4 subunit
                     of VLA-4 receptor"
                     /codon_start=1
                     /product="integrin alpha-4 isoform 1 preproprotein"
                     /protein_id="NP_000876.3"
                     /db_xref="CCDS:CCDS42788.1"
                     /db_xref="GeneID:3676"
                     /db_xref="HGNC:HGNC:6140"
                     /db_xref="MIM:192975"
                     /translation="MAWEARREPGPRRAAVRETVMLLLCLGVPTGRPYNVDTESALLYQ
                     GPHNTLFGYSVVLHSHGANRWLLVGAPTANWLANASVINPGAIYRCRIGKNPGQTCEQL
                     QLGSPNGEPCGKTCLEERDNQWLGVTLSRQPGENGSIVTCGHRWKNIFYIKNENKLPTG
                     GCYGVPPDLRTELSKRIAPCYQDYVKKFGENFASCQAGISSFYTKDLIVMGAPGSSYWT
                     GSLFVYNITTNKYKAFLDKQNQVKFGSYLGYSVGAGHFRSQHTTEVVGGAPQHEQIGKA
                     YIFSIDEKELNILHEMKGKKLGSYFGASVCAVDLNADGFSDLLVGAPMQSTIREEGRVF
                     VYINSGSGAVMNAMETNLVGSDKYAARFGESIVNLGDIDNDGFEDVAIGAPQEDDLQGA
                     IYIYNGRADGISSTFSQRIEGLQISKSLSMFGQSISGQIDADNNGYVDVAVGAFRSDSA
                     VLLRTRPVVIVDASLSHPESVNRTKFDCVENGWPSVCIDLTLCFSYKGKEVPGYIVLFY
                     NMSLDVNRKAESPPRFYFSSNGTSDVITGSIQVSSREANCRTHQAFMRKDVRDILTPIQ
                     IEAAYHLGPHVISKRSTEEFPPLQPILQQKKEKDIMKKTINFARFCAHENCSADLQVSA
                     KIGFLKPHENKTYLAVGSMKTLMLNVSLFNAGDDAYETTLHVKLPVGLYFIKILELEEK
                     QINCEVTDNSGVVQLDCSIGYIYVDHLSRIDISFLLDVSSLSRAEEDLSITVHATCENE
                     EEMDNLKHSRVTVAIPLKYEVKLTVHGFVNPTSFVYGSNDENEPETCMVEKMNLTFHVI
                     NTGNSMAPNVSVEIMVPNSFSPQTDKLFNILDVQTTTGECHFENYQRVCALEQQKSAMQ
                     TLKGIVRFLSKTDKRLLYCIKADPHCLNFLCNFGKMESGKEASVHIQLEGRPSILEMDE
                     TSALKFEIRATGFPEPNPRVIELNKDENVAHVLLEGLHHQRPKRYFTIVIISSSLLLGL
                     IVLLLISYVMWKAGFFKRQYKSILQEENRRDSWSYINSKSNDD"
     sig_peptide     270..368
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     369..3365
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /product="Integrin alpha-4. /id=PRO_0000016244"
                     /note="propagated from UniProtKB/Swiss-Prot (P13612.3)"
     misc_feature    372..569
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P13612.3);
                     Region: FG-GAP 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    504..506
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P13612.3); glycosylation site"
     misc_feature    597..800
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P13612.3);
                     Region: FG-GAP 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    681..683
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P13612.3); glycosylation site"
     misc_feature    822..980
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P13612.3);
                     Region: FG-GAP 3.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    954..956
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P13612.3); glycosylation site"
     misc_feature    981..1142
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P13612.3);
                     Region: FG-GAP 4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1143..1322
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P13612.3);
                     Region: FG-GAP 5.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1332..1505
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P13612.3);
                     Region: FG-GAP 6.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1515..1703
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P13612.3);
                     Region: FG-GAP 7.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1707..1709
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P13612.3); glycosylation site"
     misc_feature    1821..1823
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P13612.3); glycosylation site"
     misc_feature    1881..1883
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P13612.3); glycosylation site"
     misc_feature    2040..2045
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="Cleavage; propagated from UniProtKB/Swiss-Prot
                     (P13612.3); cleavage site"
     misc_feature    2085..2117
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P13612.3);
                     Region: SG1"
     misc_feature    2145..2147
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P13612.3); glycosylation site"
     misc_feature    2202..2204
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P13612.3); glycosylation site"
     misc_feature    2247..2249
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P13612.3); glycosylation site"
     misc_feature    2685..2687
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P13612.3); glycosylation site"
     misc_feature    2730..2732
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P13612.3); glycosylation site"
     misc_feature    3201..3272
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P13612.3);
                     transmembrane region"
     misc_feature    3276..3290
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="propagated from UniProtKB/Swiss-Prot (P13612.3);
                     Region: GFFKR motif"
     misc_feature    3330..3332
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:11533025,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P13612.3);
                     phosphorylation site"
     regulatory      3417..3422
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="hexamer: AAGAAA"
     polyA_site      3450
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="major polyA site"
     regulatory      6499..6504
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="hexamer: AATAAA"
     polyA_site      6523
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="major polyA site"
     regulatory      6749..6754
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
                     /note="hexamer: AATAAA"
     polyA_site      6781
                     /gene="ITGA4"
                     /gene_synonym="CD49D; IA4"
ORIGIN
        1 gaagcagcgc gagcacccga agctcccggc tggcggcaga aaccgggagt ggggccgggc
       61 gagtgcgcgg catcccaggc cggcccgaac gctccgcccg cggtgggccg acttcccctc
      121 ctcttccctc tctccttcct ttagcccgct ggcgccggac acgctgcgcc tcatctcttg
      181 gggcgttctt ccccgttggc caaccgtcgc atcccgtgca actttggggt agtggccgtt
      241 tagtgttgaa tgttccccac cgagagcgca tggcttggga agcgaggcgc gaacccggcc
      301 cccgaagggc cgccgtccgg gagacggtga tgctgttgct gtgcctgggg gtcccgaccg
      361 gccgccccta caacgtggac actgagagcg cgctgcttta ccagggcccc cacaacacgc
      421 tgttcggcta ctcggtcgtg ctgcacagcc acggggcgaa ccgatggctc ctagtgggtg
      481 cgcccactgc caactggctc gccaacgctt cagtgatcaa tcccggggcg atttacagat
      541 gcaggatcgg aaagaatccc ggccagacgt gcgaacagct ccagctgggt agccctaatg
      601 gagaaccttg tggaaagact tgtttggaag agagagacaa tcagtggttg ggggtcacac
      661 tttccagaca gccaggagaa aatggatcca tcgtgacttg tgggcataga tggaaaaata
      721 tattttacat aaagaatgaa aataagctcc ccactggtgg ttgctatgga gtgccccctg
      781 atttacgaac agaactgagt aaaagaatag ctccgtgtta tcaagattat gtgaaaaaat
      841 ttggagaaaa ttttgcatca tgtcaagctg gaatatccag tttttacaca aaggatttaa
      901 ttgtgatggg ggccccagga tcatcttact ggactggctc tctttttgtc tacaatataa
      961 ctacaaataa atacaaggct tttttagaca aacaaaatca agtaaaattt ggaagttatt
     1021 taggatattc agtcggagct ggtcattttc ggagccagca tactaccgaa gtagtcggag
     1081 gagctcctca acatgagcag attggtaagg catatatatt cagcattgat gaaaaagaac
     1141 taaatatctt acatgaaatg aaaggtaaaa agcttggatc gtactttgga gcttctgtct
     1201 gtgctgtgga cctcaatgca gatggcttct cagatctgct cgtgggagca cccatgcaga
     1261 gcaccatcag agaggaagga agagtgtttg tgtacatcaa ctctggctcg ggagcagtaa
     1321 tgaatgcaat ggaaacaaac ctcgttggaa gtgacaaata tgctgcaaga tttggggaat
     1381 ctatagttaa tcttggcgac attgacaatg atggctttga agatgttgct atcggagctc
     1441 cacaagaaga tgacttgcaa ggtgctattt atatttacaa tggccgtgca gatgggatct
     1501 cgtcaacctt ctcacagaga attgaaggac ttcagatcag caaatcgtta agtatgtttg
     1561 gacagtctat atcaggacaa attgatgcag ataataatgg ctatgtagat gtagcagttg
     1621 gtgcttttcg gtctgattct gctgtcttgc taaggacaag acctgtagta attgttgacg
     1681 cttctttaag ccaccctgag tcagtaaata gaacgaaatt tgactgtgtt gaaaatggat
     1741 ggccttctgt gtgcatagat ctaacacttt gtttctcata taagggcaag gaagttccag
     1801 gttacattgt tttgttttat aacatgagtt tggatgtgaa cagaaaggca gagtctccac
     1861 caagattcta tttctcttct aatggaactt ctgacgtgat tacaggaagc atacaggtgt
     1921 ccagcagaga agctaactgt agaacacatc aagcatttat gcggaaagat gtgcgggaca
     1981 tcctcacccc aattcagatt gaagctgctt accaccttgg tcctcatgtc atcagtaaac
     2041 gaagtacaga ggaattccca ccacttcagc caattcttca gcagaagaaa gaaaaagaca
     2101 taatgaaaaa aacaataaac tttgcaaggt tttgtgccca tgaaaattgt tctgctgatt
     2161 tacaggtttc tgcaaagatt gggtttttga agccccatga aaataaaaca tatcttgctg
     2221 ttgggagtat gaagacattg atgttgaatg tgtccttgtt taatgctgga gatgatgcat
     2281 atgaaacgac tctacatgtc aaactacccg tgggtcttta tttcattaag attttagagc
     2341 tggaagagaa gcaaataaac tgtgaagtca cagataactc tggcgtggta caacttgact
     2401 gcagtattgg ctatatatat gtagatcatc tctcaaggat agatattagc tttctcctgg
     2461 atgtgagctc actcagcaga gcggaagagg acctcagtat cacagtgcat gctacctgtg
     2521 aaaatgaaga ggaaatggac aatctaaagc acagcagagt gactgtagca atacctttaa
     2581 aatatgaggt taagctgact gttcatgggt ttgtaaaccc aacttcattt gtgtatggat
     2641 caaatgatga aaatgagcct gaaacgtgca tggtggagaa aatgaactta actttccatg
     2701 ttatcaacac tggcaatagt atggctccca atgttagtgt ggaaataatg gtaccaaatt
     2761 cttttagccc ccaaactgat aagctgttca acattttgga tgtccagact actactggag
     2821 aatgccactt tgaaaattat caaagagtgt gtgcattaga gcagcaaaag agtgcaatgc
     2881 agaccttgaa aggcatagtc cggttcttgt ccaagactga taagaggcta ttgtactgca
     2941 taaaagctga tccacattgt ttaaatttct tgtgtaattt tgggaaaatg gaaagtggaa
     3001 aagaagccag tgttcatatc caactggaag gccggccatc cattttagaa atggatgaga
     3061 cttcagcact caagtttgaa ataagagcaa caggttttcc agagccaaat ccaagagtaa
     3121 ttgaactaaa caaggatgag aatgttgcgc atgttctact ggaaggacta catcatcaaa
     3181 gacccaaacg ttatttcacc atagtgatta tttcaagtag cttgctactt ggacttattg
     3241 tacttctatt gatctcatat gttatgtgga aggctggctt ctttaaaaga caatacaaat
     3301 ctatcctaca agaagaaaac agaagagaca gttggagtta tatcaacagt aaaagcaatg
     3361 atgattaagg acttctttca aattgagaga atggaaaaca gactcaggtt gtagtaaaga
     3421 aatttaaaag acactgttta caagaaaaaa tgaattttgt ttggacttct tttactcatg
     3481 atcttgtgac atattatgtc ttcatgcaag gggaaaatct cagcaatgat tactctttga
     3541 gatagaagaa ctgcaaaggt aataatacag ccaaagataa tctctcagct tttaaatggg
     3601 tagagaaaca ctaaagcatt caatttattc aagaaaagta agcccttgaa gatatcttga
     3661 aatgaaagta taactgagtt aaattatact ggagaagtct tagacttgaa atactactta
     3721 ccatatgtgc ttgcctcagt aaaatgaacc ccactgggtg ggcagaggtt catttcaaat
     3781 acatctttga tacttgttca aaatatgttc tttaaaaata taatttttta gagagctgtt
     3841 cccaaatttt ctaacgagtg gaccattatc actttaaagc cctttattta taatacattt
     3901 cctacgggct gtgttccaac aaccattttt tttcagcaga ctatgaatat tatagtatta
     3961 taggccaaac tggcaaactt cagactgaac atgtacactg gtttgagctt agtgaaatta
     4021 cttctggata attatttttt tataattatg gatttcacca tctttctttc tgtatatata
     4081 catgtgtttt tatgtaggta tatatttacc attcttccta tctattcttc ctataacaca
     4141 cctttatcaa gcatacccag gagtaatctt caaatctttt gttatattct gaaacaaaag
     4201 attgtgagtg ttgcacttta cctgatacac gctgatttag aaaatacaga aaccatacct
     4261 cactaataac tttaaaatca aagctgtgca aagactaggg ggcctatact tcatatgtat
     4321 tatgtactat gtaaaatatt gactatcaca caactatttc cttggatgta attctttgtt
     4381 accctttaca agtataagtg ttaccttaca tggaaacgaa gaaacaaaat tcataaattt
     4441 aaattcataa atttagctga aagatactga ttcaatttgt atacagtgaa tataaatgag
     4501 acgacagcaa aattttcatg aaatgtaaaa tatttttata gtttgttcat actatatgag
     4561 gttctatttt aaatgacttt ctggatttta aaaaatttct ttaaatacaa tcatttttgt
     4621 aatatttatt ttatgcttat gatctagata attgcagaat atcattttat ctgactctgc
     4681 cttcataaga gagctgtggc cgaattttga acatctgtta tagggagtga tcaaattaga
     4741 aggcaatgtg gaaaaacaat tctgggaaag atttctttat atgaagtccc tgccactagc
     4801 cagccatcct aattgatgaa agttatctgt tcacaggcct gcagtgatgg tgaggaatgt
     4861 tctgagattt gcgaaggcat ttgagtagtg aaatgtaagc acaaaacctc ctgaacccag
     4921 agtgtgtata cacaggaata aactttatga catttatgta tttttaaaaa actttgtatc
     4981 gttataaaaa ggctagtcat tctttcagga gaacatctag gatcatagat gaaaaatcaa
     5041 gccccgattt agaactgtct tctccaggat ggtctctaag gaaatttaca tttggttctt
     5101 tcctactcag aactactcag aaacaactat atatttcagg ttatctgagc acagtgaaag
     5161 cagagtacta tggttgtcca acacaggcct ctcagataca aggggaacac aattacatat
     5221 tgggctagat tttgcccagt tcaaaatagt atttgttatc aacttacttt gttacttgta
     5281 tcatgaattt taaaacccta ccactttaag aagacaggga tgggttattc ttttttggca
     5341 ggtaggctat ataactatgt gattttgaaa tttaactgct ctggattagg gagcagtgaa
     5401 tcaaggcaga cttatgaaat ctgtattata tttgtaacag aatataggaa atttaacata
     5461 attgatgagc tcaaatcctg aaaaatgaaa gaatccaaat tatttcagaa ttatctaggt
     5521 taaatattga tgtattatga tggttgcaaa gtttttttgt gtgtccaata aacacattgt
     5581 aaaaaaaaga atttgaattg atatctaaaa acagaatttg aattgatatt tcatcttgac
     5641 ttttaaagcc ctagaggcta attgttagta acatcaattt ctattaggat atccgtttgg
     5701 ccacacagca ggaggttaga gcaatggagc attactgagt tcctccccct gtcagatcag
     5761 cagcagcatt agattctcat agaagtgcga accatatggt gaactggtat gtgagggatc
     5821 tagagtgcca tgttcctcaa gagaatctaa tgcctgatga tctgaggtgg aacagttcat
     5881 cctgaaacca ttcccccatc cacggaaaaa ttgtcttcca tgaaactggt cccaaaaagg
     5941 gtggggacca caggtttaaa gcatggccac atttctttat attaaaattc tagtttgtac
     6001 atttctttta gaaacaatta catgttactt tggaatcatt tcttccatgc ttcctccata
     6061 aagactgata agtcttggat gcaatctgta aagaaaatac attatttcat caacttattt
     6121 tgttgttttt cacatacacc taataagtat ggtacacaat gccaatgcca aatacaaatt
     6181 gataacaaac acagcattcc caacagagct gtaatctaga aaactgagaa ggtctgattg
     6241 ataaatcatc aacaacaata attgctctaa aacctcctta actgacttcc ttgattgtcc
     6301 aatgctctcc attacctctg taaaacagtc agttatgcct ctagaacacc catgtctagt
     6361 gggcacccct gcatgcttct tctaaccact gagtgtcaca atgcctacca agaatgcgtt
     6421 tgcaggttcc taaacctgtt tataccagtt gctatgtaaa attgttccca agggaagttg
     6481 aatgctctgt aaaggcctaa taaaagcaaa ttactgaaca aaacatgtta cagtaattat
     6541 gagtgagagg aaactaagat ggaaggataa aaatctaaca ctttactatt cagatggctc
     6601 cactaaaaga tttaagatct tgatccattt ttaaaaatcc aaaatggaag ttgtagacat
     6661 tatctgtagt ttatgcacaa caataaatta gaaagccaat gtagacacgc ataaccaaag
     6721 aaaatgcctt gggtctacat aacagttgaa taaatgtaaa gttgcttttt atttattgaa
     6781 a
//
LOCUS       NM_000887               4663 bp    mRNA    linear   PRI 17-APR-2023
DEFINITION  Homo sapiens integrin subunit alpha X (ITGAX), transcript variant 2,
            mRNA.
ACCESSION   NM_000887
VERSION     NM_000887.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4663)
  AUTHORS   Wang X, Guan Z, Tang W, Wang X, Xu C, Shan E, Wang W and Gao Y.
  TITLE     PAX5/ITGAX Contributed to the Progression of Atherosclerosis by
            Regulation of B Differentiation via TNF-alpha Signaling Pathway
  JOURNAL   DNA Cell Biol 42 (2), 97-104 (2023)
   PUBMED   36730754
  REMARK    GeneRIF: PAX5/ITGAX Contributed to the Progression of
            Atherosclerosis by Regulation of B Differentiation via TNF-alpha
            Signaling Pathway.
REFERENCE   2  (bases 1 to 4663)
  AUTHORS   Ni L, Li P, Li M, Huang S and Dang N.
  TITLE     SERPINB8 and furin regulate ITGAX expression and affect the
            proliferation and invasion of melanoma cells
  JOURNAL   Exp Dermatol 32 (1), 24-29 (2023)
   PUBMED   36134483
  REMARK    GeneRIF: SERPINB8 and furin regulate ITGAX expression and affect the
            proliferation and invasion of melanoma cells.
REFERENCE   3  (bases 1 to 4663)
  AUTHORS   Yuan CT, Chuang SS, Cheng PY, Chang K, Wang H, Tsai JH, Liau JY and
            Chou WC.
  TITLE     Decreased CD11c-positive dendritic cells in the tumor
            microenvironment predict double-hit/triple-hit genotype and survival
            in diffuse large B-cell lymphoma
  JOURNAL   J Pathol Clin Res 8 (5), 436-447 (2022)
   PUBMED   35715938
  REMARK    GeneRIF: Decreased CD11c-positive dendritic cells in the tumor
            microenvironment predict double-hit/triple-hit genotype and survival
            in diffuse large B-cell lymphoma.
REFERENCE   4  (bases 1 to 4663)
  AUTHORS   Yan S, Meng L, Guo X, Chen Z, Zhang Y and Li Y.
  TITLE     Identification of ITGAX and CCR1 as potential biomarkers of
            atherosclerosis via Gene Set Enrichment Analysis
  JOURNAL   J Int Med Res 50 (3), 3000605211039480 (2022)
   PUBMED   35287505
  REMARK    GeneRIF: Identification of ITGAX and CCR1 as potential biomarkers of
            atherosclerosis via Gene Set Enrichment Analysis.
REFERENCE   5  (bases 1 to 4663)
  AUTHORS   Nagy-Balo Z, Kiss R, Demeter J, Bodor C, Bajtay Z and Erdei A.
  TITLE     BCR activated CLL B cells use both CR3 (CD11b/CD18) and CR4
            (CD11c/CD18) for adhesion while CR4 has a dominant role in migration
            towards SDF-1
  JOURNAL   PLoS One 16 (7), e0254853 (2021)
   PUBMED   34283878
  REMARK    GeneRIF: BCR activated CLL B cells use both CR3 (CD11b/CD18) and CR4
            (CD11c/CD18) for adhesion while CR4 has a dominant role in migration
            towards SDF-1. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4663)
  AUTHORS   Gaidano G, Bergui L, Schena M, Gaboli M, Cremona O, Marchisio PC and
            Caligaris-Cappio F.
  TITLE     Integrin distribution and cytoskeleton organization in normal and
            malignant monocytes
  JOURNAL   Leukemia 4 (10), 682-687 (1990)
   PUBMED   1976870
REFERENCE   7  (bases 1 to 4663)
  AUTHORS   Corbi AL, Garcia-Aguilar J and Springer TA.
  TITLE     Genomic structure of an integrin alpha subunit, the leukocyte
            p150,95 molecule
  JOURNAL   J Biol Chem 265 (5), 2782-2788 (1990)
   PUBMED   2303426
  REMARK    Erratum:[J Biol Chem 1990 Jul 25;265(21):12750-1]
REFERENCE   8  (bases 1 to 4663)
  AUTHORS   Corbi AL, Larson RS, Kishimoto TK, Springer TA and Morton CC.
  TITLE     Chromosomal location of the genes encoding the leukocyte adhesion
            receptors LFA-1, Mac-1 and p150,95. Identification of a gene cluster
            involved in cell adhesion
  JOURNAL   J Exp Med 167 (5), 1597-1607 (1988)
   PUBMED   3284962
REFERENCE   9  (bases 1 to 4663)
  AUTHORS   Corbi AL, Miller LJ, O'Connor K, Larson RS and Springer TA.
  TITLE     cDNA cloning and complete primary structure of the alpha subunit of
            a leukocyte adhesion glycoprotein, p150,95
  JOURNAL   EMBO J 6 (13), 4023-4028 (1987)
   PUBMED   3327687
REFERENCE   10  (bases 1 to 4663)
  AUTHORS   Miller,L.J., Wiebe,M. and Springer,T.A.
  TITLE     Purification and alpha subunit N-terminal sequences of human Mac-1
            and p150,95 leukocyte adhesion proteins
  JOURNAL   J Immunol 138 (8), 2381-2383 (1987)
   PUBMED   3549901
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M81695.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000268296.9/ ENSP00000268296.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA324567.1, BC038237.1,
            M81695.1, AC093520.4 and AW014280.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_000887.4.
            Summary: This gene encodes the integrin alpha X chain protein.
            Integrins are heterodimeric integral membrane proteins composed of
            an alpha chain and a beta chain. This protein combines with the
            beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred
            to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2
            complex seems to overlap the properties of the alpha M beta 2
            integrin in the adherence of neutrophils and monocytes to
            stimulated endothelium cells, and in the phagocytosis of complement
            coated particles. Two transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Nov
            2013].
            Transcript Variant: This variant (2) lacks an alternate intron in
            the 3' coding sequence compared to variant 1. The resulting isoform
            (2) has a shorter and distinct C-terminus compared to isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4663
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..4663
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="integrin subunit alpha X"
                     /db_xref="GeneID:3687"
                     /db_xref="HGNC:HGNC:6152"
                     /db_xref="MIM:151510"
     CDS             80..3571
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; integrin, alpha X (antigen CD11C (p150), alpha
                     polypeptide); leukocyte surface antigen p150,95, alpha
                     subunit; leu M5, alpha subunit; myeloid membrane antigen,
                     alpha subunit; p150 95 integrin alpha chain; CD11
                     antigen-like family member C; integrin alpha X; leukocyte
                     adhesion receptor p150,95; leukocyte adhesion glycoprotein
                     p150,95 alpha chain; integrin, alpha X (complement
                     component 3 receptor 4 subunit)"
                     /codon_start=1
                     /product="integrin alpha-X isoform 2 precursor"
                     /protein_id="NP_000878.2"
                     /db_xref="CCDS:CCDS10711.1"
                     /db_xref="GeneID:3687"
                     /db_xref="HGNC:HGNC:6152"
                     /db_xref="MIM:151510"
                     /translation="MTRTRAALLLFTALATSLGFNLDTEELTAFRVDSAGFGDSVVQYA
                     NSWVVVGAPQKITAANQTGGLYQCGYSTGACEPIGLQVPPEAVNMSLGLSLASTTSPSQ
                     LLACGPTVHHECGRNMYLTGLCFLLGPTQLTQRLPVSRQECPRQEQDIVFLIDGSGSIS
                     SRNFATMMNFVRAVISQFQRPSTQFSLMQFSNKFQTHFTFEEFRRSSNPLSLLASVHQL
                     QGFTYTATAIQNVVHRLFHASYGARRDAAKILIVITDGKKEGDSLDYKDVIPMADAAGI
                     IRYAIGVGLAFQNRNSWKELNDIASKPSQEHIFKVEDFDALKDIQNQLKEKIFAIEGTE
                     TTSSSSFELEMAQEGFSAVFTPDGPVLGAVGSFTWSGGAFLYPPNMSPTFINMSQENVD
                     MRDSYLGYSTELALWKGVQSLVLGAPRYQHTGKAVIFTQVSRQWRMKAEVTGTQIGSYF
                     GASLCSVDVDSDGSTDLVLIGAPHYYEQTRGGQVSVCPLPRGWRRWWCDAVLYGEQGHP
                     WGRFGAALTVLGDVNGDKLTDVVIGAPGEEENRGAVYLFHGVLGPSISPSHSQRIAGSQ
                     LSSRLQYFGQALSGGQDLTQDGLVDLAVGARGQVLLLRTRPVLWVGVSMQFIPAEIPRS
                     AFECREQVVSEQTLVQSNICLYIDKRSKNLLGSRDLQSSVTLDLALDPGRLSPRATFQE
                     TKNRSLSRVRVLGLKAHCENFNLLLPSCVEDSVTPITLRLNFTLVGKPLLAFRNLRPML
                     AADAQRYFTASLPFEKNCGADHICQDNLGISFSFPGLKSLLVGSNLELNAEVMVWNDGE
                     DSYGTTITFSHPAGLSYRYVAEGQKQGQLRSLHLTCDSAPVGSQGTWSTSCRINHLIFR
                     GGAQITFLATFDVSPKAVLGDRLLLTANVSSENNTPRTSKTTFQLELPVKYAVYTVVSS
                     HEQFTKYLNFSESEEKESHVAMHRYQVNNLGQRDLPVSINFWVPVELNQEAVWMDVEVS
                     HPQNPSLRCSSEKIAPPASDFLAHIQKNPVLDCSIAGCLRFRCDVPSFSVQEELDFTLK
                     GNLSFGWVRQILQKKVSVVSVAEITFDTSVYSQLPGQEAFMRAQTTTVLEKYKVHNPTP
                     LIVGSSIGGLLLLALITAVLYKVGFFKRQYKEMMEEANGQIAPENGTQTPSPPSEK"
     sig_peptide     80..136
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     137..3568
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /product="Integrin alpha-X. /id=PRO_0000016294"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3)"
     misc_feature    146..313
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3);
                     Region: FG-GAP 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    260..262
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20033057; propagated from
                     UniProtKB/Swiss-Prot (P20702.3); glycosylation site"
     misc_feature    314..493
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3);
                     Region: FG-GAP 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    344..346
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P20702.3); glycosylation site"
     misc_feature    1097..1252
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3);
                     Region: FG-GAP 3.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1253..1408
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3);
                     Region: FG-GAP 4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1253..1255
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20033057; propagated from
                     UniProtKB/Swiss-Prot (P20702.3); glycosylation site"
     misc_feature    1409..1591
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3);
                     Region: FG-GAP 5.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1598..1774
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3);
                     Region: FG-GAP 6.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1787..1969
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3);
                     Region: FG-GAP 7.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    2168..2170
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20033057; propagated from
                     UniProtKB/Swiss-Prot (P20702.3); glycosylation site"
     misc_feature    2282..2284
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20033057; propagated from
                     UniProtKB/Swiss-Prot (P20702.3); glycosylation site"
     misc_feature    2774..2776
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:20033057; propagated from
                     UniProtKB/Swiss-Prot (P20702.3); glycosylation site"
     misc_feature    2894..2896
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P20702.3); glycosylation site"
     misc_feature    3227..3229
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P20702.3); glycosylation site"
     misc_feature    3401..3463
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3);
                     transmembrane region"
     misc_feature    3470..3484
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="propagated from UniProtKB/Swiss-Prot (P20702.3);
                     Region: GFFKR motif"
     regulatory      4583..4588
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="hexamer: ATTAAA"
     polyA_site      4601
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="major polyA site"
     regulatory      4643..4648
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
                     /note="hexamer: AATAAA"
     polyA_site      4663
                     /gene="ITGAX"
                     /gene_synonym="CD11C; SLEB6"
ORIGIN
        1 acttgcttcc tcagtacctt ggtccagctc ttcctgcaac ggcccaggag ctcagagctc
       61 cacatctgac cttctagtca tgaccaggac cagggcagca ctcctcctgt tcacagcctt
      121 agcaacttct ctaggtttca acttggacac agaggagctg acagccttcc gtgtggacag
      181 cgctgggttt ggagacagcg tggtccagta tgccaactcc tgggtggtgg ttggagcccc
      241 ccaaaagata acagctgcca accaaacggg tggcctctac cagtgtggct acagcactgg
      301 tgcctgtgag cccatcggcc tgcaggtgcc cccggaggcc gtgaacatgt ccctgggcct
      361 gtccctggcg tctaccacca gcccttccca gctgctggcc tgcggcccca ccgtgcacca
      421 cgagtgcggg aggaacatgt acctcaccgg actctgcttc ctcctgggcc ccacccagct
      481 cacccagagg ctcccggtgt ccaggcagga gtgcccaaga caggagcagg acattgtgtt
      541 cctgatcgat ggctcaggca gcatctcctc ccgcaacttt gccacgatga tgaacttcgt
      601 gagagctgtg ataagccagt tccagagacc cagcacccag ttttccctga tgcagttctc
      661 caacaaattc caaacacact tcactttcga ggaattcagg cgcagctcaa accccctcag
      721 cctgttggct tctgttcacc agctgcaagg gtttacatac acggccaccg ccatccaaaa
      781 tgtcgtgcac cgattgttcc atgcctcata tggggcccgt agggatgccg ccaaaattct
      841 cattgtcatc actgatggga agaaagaagg cgacagcctg gattataagg atgtcatccc
      901 catggctgat gcagcaggca tcatccgcta tgcaattggg gttggattag cttttcaaaa
      961 cagaaattct tggaaagaat taaatgacat tgcatcgaag ccctcccagg aacacatatt
     1021 taaagtggag gactttgatg ctctgaaaga tattcaaaac caactgaagg agaagatctt
     1081 tgccattgag ggtacggaga ccacaagcag tagctccttc gaattggaga tggcacagga
     1141 gggcttcagc gctgtgttca cacctgatgg ccccgttctg ggggctgtgg ggagcttcac
     1201 ctggtctgga ggtgccttcc tgtacccccc aaatatgagc cctaccttca tcaacatgtc
     1261 tcaggagaat gtggacatga gggactctta cctgggttac tccaccgagc tggccctctg
     1321 gaaaggggtg cagagcctgg tcctgggggc cccccgctac cagcacaccg ggaaggctgt
     1381 catcttcacc caggtgtcca ggcaatggag gatgaaggcc gaagtcacgg ggactcagat
     1441 cggctcctac ttcggggcct ccctctgctc cgtggacgta gacagcgacg gcagcaccga
     1501 cctggtcctc atcggggccc cccattacta cgagcagacc cgagggggcc aggtgtctgt
     1561 gtgtcccttg cccagggggt ggagaaggtg gtggtgtgat gctgttctct acggggagca
     1621 gggccacccc tggggtcgct ttggggcggc tctgacagtg ctgggggatg tgaatgggga
     1681 caagctgaca gacgtggtca tcggggcccc aggagaggag gagaaccggg gtgctgtcta
     1741 cctgtttcac ggagtcttgg gacccagcat cagcccctcc cacagccagc ggatcgcggg
     1801 ctcccagctc tcctccaggc tgcagtattt tgggcaggca ctgagcgggg gtcaagacct
     1861 cacccaggat ggactggtgg acctggctgt gggggcccgg ggccaggtgc tcctgctcag
     1921 gaccagacct gtgctctggg tgggggtgag catgcagttc atacctgccg agatccccag
     1981 gtctgcgttt gagtgtcggg agcaggtggt ctctgagcag accctggtac agtccaacat
     2041 ctgcctttac attgacaaac gttctaagaa cctgcttggg agccgtgacc tccaaagctc
     2101 tgtgaccttg gacctggccc tcgaccctgg ccgcctgagt ccccgtgcca ccttccagga
     2161 aacaaagaac cggagtctga gccgagtccg agtcctcggg ctgaaggcac actgtgaaaa
     2221 cttcaacctg ctgctcccga gctgcgtgga ggactctgtg acccccatta ccttgcgtct
     2281 gaacttcacg ctggtgggca agcccctcct tgccttcaga aacctgcggc ctatgctggc
     2341 cgccgatgct cagagatact tcacggcctc cctacccttt gagaagaact gtggagccga
     2401 ccatatctgc caggacaatc tcggcatctc cttcagcttc ccaggcttga agtccctgct
     2461 ggtggggagt aacctggagc tgaacgcaga agtgatggtg tggaatgacg gggaagactc
     2521 ctacggaacc accatcacct tctcccaccc cgcaggactg tcctaccgct acgtggcaga
     2581 gggccagaaa caagggcagc tgcgttccct gcacctgaca tgtgacagcg ccccagttgg
     2641 gagccagggc acctggagca ccagctgcag aatcaaccac ctcatcttcc gtggcggcgc
     2701 ccagatcacc ttcttggcta cctttgacgt ctcccccaag gctgtcctgg gagaccggct
     2761 gcttctgaca gccaatgtga gcagtgagaa caacactccc aggaccagca agaccacctt
     2821 ccagctggag ctcccggtga agtatgctgt ctacactgtg gttagcagcc acgaacaatt
     2881 caccaaatac ctcaacttct cagagtctga ggagaaggaa agccatgtgg ccatgcacag
     2941 ataccaggtc aataacctgg gacagaggga cctgcctgtc agcatcaact tctgggtgcc
     3001 tgtggagctg aaccaggagg ctgtgtggat ggatgtggag gtctcccacc cccagaaccc
     3061 atcccttcgg tgctcctcag agaaaatcgc acccccagca tctgacttcc tggcgcacat
     3121 tcagaagaat cccgtgctgg actgctccat tgctggctgc ctgcggttcc gctgtgacgt
     3181 cccctccttc agcgtccagg aggagctgga tttcaccctg aagggcaacc tcagctttgg
     3241 ctgggtccgc cagatattgc agaagaaggt gtcggtcgtg agtgtggctg aaattacgtt
     3301 cgacacatcc gtgtactccc agcttccagg acaggaggca tttatgagag ctcagacgac
     3361 aacggtgctg gagaagtaca aggtccacaa ccccaccccc ctcatcgtag gcagctccat
     3421 tgggggtctg ttgctgctgg cactcatcac agcggtactg tacaaagttg gcttcttcaa
     3481 gcgtcagtac aaggaaatga tggaggaggc aaatggacaa attgccccag aaaacgggac
     3541 acagaccccc agcccgccca gtgagaaatg atcccctctt tgccttggac ttcttctccc
     3601 ccgcgagttt tccccactta cttaccctca cctgtcaggc ctgacgggga ggaaccactg
     3661 caccaccgag agaggctggg atgggcctgc ttcctgtctt tgggagaaaa cgtcttgctt
     3721 gggaaggggc ctttgtcttg tcaaggttcc aactggaaac ccttaggaca gggtccctgc
     3781 tgtgttcccc aaaggacttg acttgcaatt tctacctaga aatacatgga caataccccc
     3841 aggcctcagt ctcccttctc ccatgaggca cgaatgatct ttctttcctt tctttttttt
     3901 tttttttctt ttcttttttt tttttttgag acggagtctc gctctgtcac ccaggctgga
     3961 gtgcaatggc gtgatctcgg ctcactgcaa cctccgcctc ccgggttcaa gtaattctgc
     4021 tgtctcagcc tcctgagtag ctgggactac aggcacacgc cacctcgccc ggcccgatct
     4081 ttctaaaata cagttctgaa tatgctgctc atccccacct gtcttcaaca gctccccatt
     4141 accctcagga caatgtctga actctccagc ttcgcgtgag aagtcccctt ccatcccaga
     4201 gggtgggctt cagggcgcac agcatgagag gctctgtgcc cccatcaccc tcgtttccag
     4261 tgaattagtg tcatgtcagc atcagctcag ggcttcatcg tggggctctc agttccgatt
     4321 tcccaggctg aattgggagt gagatgcctg catgctgggt tctgcacagc tggcctcccg
     4381 cgttgggcaa cattgctggc tggaagggag gagcgccctc tagggaggga catggccccg
     4441 gtgcggctgc agctcaccca gccccagggg cagaagagac ccaaccactt ctattttttg
     4501 aggctatgaa tatagtacct gaaaaaatgc caagacatga ttattttttt aaaaagcgta
     4561 ctttaaatgt ttgtgttaat aaattaaaac atgcacaaaa agatgcatct accgctcttg
     4621 ggaaatatgt caaaggtcta aaaataaaaa agccttctgt gga
//
LOCUS       NM_000888               4641 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens integrin subunit beta 6 (ITGB6), transcript variant 1,
            mRNA.
ACCESSION   NM_000888
VERSION     NM_000888.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4641)
  AUTHORS   You B, Pan S, Gu M, Zhang K, Xia T, Zhang S, Chen W, Xie H, Fan Y,
            Yao H, Cheng T, Zhang P, Liu D and You Y.
  TITLE     Extracellular vesicles rich in HAX1 promote angiogenesis by
            modulating ITGB6 translation
  JOURNAL   J Extracell Vesicles 11 (5), e12221 (2022)
   PUBMED   35524442
  REMARK    GeneRIF: Extracellular vesicles rich in HAX1 promote angiogenesis by
            modulating ITGB6 translation. Erratum:[J Extracell Vesicles. 2022
            May;11(6):e12236. PMID: 35676233]
REFERENCE   2  (bases 1 to 4641)
  AUTHORS   Xie H, Jiao Y, Zhou X, Liao X, Chen J, Chen H, Chen L, Yu S, Deng Q,
            Sun L, Xu X and Wang J.
  TITLE     Integrin alphavbeta6 contributes to the development of intestinal
            fibrosis via the FAK/AKT signaling pathway
  JOURNAL   Exp Cell Res 411 (2), 113003 (2022)
   PUBMED   34979108
  REMARK    GeneRIF: Integrin alphavbeta6 contributes to the development of
            intestinal fibrosis via the FAK/AKT signaling pathway.
REFERENCE   3  (bases 1 to 4641)
  AUTHORS   Meecham A and Marshall JF.
  TITLE     The ITGB6 gene: its role in experimental and clinical biology
  JOURNAL   Gene 763S, 100023 (2020)
   PUBMED   34493369
  REMARK    GeneRIF: The ITGB6 gene: its role in experimental and clinical
            biology. Review article
REFERENCE   4  (bases 1 to 4641)
  AUTHORS   Munger JS, Huang X, Kawakatsu H, Griffiths MJ, Dalton SL, Wu J,
            Pittet JF, Kaminski N, Garat C, Matthay MA, Rifkin DB and Sheppard
            D.
  TITLE     The integrin alpha v beta 6 binds and activates latent TGF beta 1: a
            mechanism for regulating pulmonary inflammation and fibrosis
  JOURNAL   Cell 96 (3), 319-328 (1999)
   PUBMED   10025398
REFERENCE   5  (bases 1 to 4641)
  AUTHORS   Huang XZ, Chen A, Agrez M and Sheppard D.
  TITLE     A point mutation in the integrin beta 6 subunit abolishes both alpha
            v beta 6 binding to fibronectin and receptor localization to focal
            contacts
  JOURNAL   Am J Respir Cell Mol Biol 13 (2), 245-251 (1995)
   PUBMED   7626292
REFERENCE   6  (bases 1 to 4641)
  AUTHORS   Weinacker A, Ferrando R, Elliott M, Hogg J, Balmes J and Sheppard D.
  TITLE     Distribution of integrins alpha v beta 6 and alpha 9 beta 1 and
            their known ligands, fibronectin and tenascin, in human airways
  JOURNAL   Am J Respir Cell Mol Biol 12 (5), 547-556 (1995)
   PUBMED   7537970
REFERENCE   7  (bases 1 to 4641)
  AUTHORS   Fernandez-Ruiz E and Sanchez-Madrid F.
  TITLE     Regional localization of the human integrin beta 6 gene (ITGB6) to
            chromosome 2q24-q31
  JOURNAL   Genomics 21 (3), 638-640 (1994)
   PUBMED   7959743
REFERENCE   8  (bases 1 to 4641)
  AUTHORS   Busk M, Pytela R and Sheppard D.
  TITLE     Characterization of the integrin alpha v beta 6 as a
            fibronectin-binding protein
  JOURNAL   J Biol Chem 267 (9), 5790-5796 (1992)
   PUBMED   1532572
REFERENCE   9  (bases 1 to 4641)
  AUTHORS   Krissansen GW, Yuan Q, Jenkins D, Jiang WM, Rooke L, Spurr NK,
            Eccles M, Leung E and Watson JD.
  TITLE     Chromosomal locations of the genes coding for the integrin beta 6
            and beta 7 subunits
  JOURNAL   Immunogenetics 35 (1), 58-61 (1992)
   PUBMED   1729173
REFERENCE   10  (bases 1 to 4641)
  AUTHORS   Sheppard D, Rozzo C, Starr L, Quaranta V, Erle DJ and Pytela R.
  TITLE     Complete amino acid sequence of a novel integrin beta subunit (beta
            6) identified in epithelial cells using the polymerase chain
            reaction
  JOURNAL   J Biol Chem 265 (20), 11502-11507 (1990)
   PUBMED   2365683
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AL831998.1, AK290300.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000283249.7/ ENSP00000283249.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB222211.1, AC092153.4,
            BC121178.2, AC080166.6, AL831998.1 and AI264144.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000888.4.
            Summary: This gene encodes a protein that is a member of the
            integrin superfamily. Members of this family are adhesion receptors
            that function in signaling from the extracellular matrix to the
            cell. Integrins are heterodimeric integral membrane proteins
            composed of an alpha chain and a beta chain. The encoded protein
            forms a dimer with an alpha v chain and this heterodimer can bind
            to ligands like fibronectin and transforming growth factor beta 1.
            Alternate splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2013].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a). Variants 1 and 2
            encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4641
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.2"
     gene            1..4641
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /note="integrin subunit beta 6"
                     /db_xref="GeneID:3694"
                     /db_xref="HGNC:HGNC:6161"
                     /db_xref="MIM:147558"
     misc_feature    93..95
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /note="upstream in-frame stop codon"
     CDS             210..2576
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /note="isoform a precursor is encoded by transcript variant
                     1; integrin, beta 6"
                     /codon_start=1
                     /product="integrin beta-6 isoform a precursor"
                     /protein_id="NP_000879.2"
                     /db_xref="CCDS:CCDS2212.1"
                     /db_xref="GeneID:3694"
                     /db_xref="HGNC:HGNC:6161"
                     /db_xref="MIM:147558"
                     /translation="MGIELLCLFFLFLGRNDHVQGGCALGGAETCEDCLLIGPQCAWCA
                     QENFTHPSGVGERCDTPANLLAKGCQLNFIENPVSQVEILKNKPLSVGRQKNSSDIVQI
                     APQSLILKLRPGGAQTLQVHVRQTEDYPVDLYYLMDLSASMDDDLNTIKELGSRLSKEM
                     SKLTSNFRLGFGSFVEKPVSPFVKTTPEEIANPCSSIPYFCLPTFGFKHILPLTNDAER
                     FNEIVKNQKISANIDTPEGGFDAIMQAAVCKEKIGWRNDSLHLLVFVSDADSHFGMDSK
                     LAGIVIPNDGLCHLDSKNEYSMSTVLEYPTIGQLIDKLVQNNVLLIFAVTQEQVHLYEN
                     YAKLIPGATVGLLQKDSGNILQLIISAYEELRSEVELEVLGDTEGLNLSFTAICNNGTL
                     FQHQKKCSHMKVGDTASFSVTVNIPHCERRSRHIIIKPVGLGDALELLVSPECNCDCQK
                     EVEVNSSKCHHGNGSFQCGVCACHPGHMGPRCECGEDMLSTDSCKEAPDHPSCSGRGDC
                     YCGQCICHLSPYGNIYGPYCQCDNFSCVRHKGLLCGGNGDCDCGECVCRSGWTGEYCNC
                     TTSTDSCVSEDGVLCSGRGDCVCGKCVCTNPGASGPTCERCPTCGDPCNSKRSCIECHL
                     SAAGQAREECVDKCKLAGATISEEEDFSKDGSVSCSLQGENECLITFLITTDNEGKTII
                     HSINEKDCPKPPNIPMIMLGVSLAILLIGVVLLCIWKLLVSFHDRKEVAKFEAERSKAK
                     WQTGTNPLYRGSTSTFKNVTYKHREKQKVDLSTDC"
     sig_peptide     210..272
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     273..2573
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /product="Integrin beta-6. /id=PRO_0000016350"
                     /note="propagated from UniProtKB/Swiss-Prot (P18564.2)"
     misc_feature    351..353
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:25383667,
                     ECO:0007744|PDB:4UM8, ECO:0007744|PDB:4UM9; propagated from
                     UniProtKB/Swiss-Prot (P18564.2); glycosylation site"
     misc_feature    498..500
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:25383667,
                     ECO:0007744|PDB:4UM8, ECO:0007744|PDB:4UM9; propagated from
                     UniProtKB/Swiss-Prot (P18564.2); glycosylation site"
     misc_feature    987..989
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:25383667,
                     ECO:0000269|PubMed:28117447, ECO:0007744|PDB:4UM8,
                     ECO:0007744|PDB:4UM9; propagated from UniProtKB/Swiss-Prot
                     (P18564.2); glycosylation site"
     misc_feature    1368..1370
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:25383667,
                     ECO:0007744|PDB:4UM8, ECO:0007744|PDB:4UM9; propagated from
                     UniProtKB/Swiss-Prot (P18564.2); glycosylation site"
     misc_feature    1395..1397
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P18564.2); glycosylation site"
     misc_feature    1596..1598
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P18564.2); glycosylation site"
     misc_feature    1620..1622
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P18564.2); glycosylation site"
     misc_feature    1830..1832
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P18564.2); glycosylation site"
     misc_feature    1932..1934
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P18564.2); glycosylation site"
     misc_feature    2337..2399
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /note="propagated from UniProtKB/Swiss-Prot (P18564.2);
                     transmembrane region"
     misc_feature    2400..2483
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /note="propagated from UniProtKB/Swiss-Prot (P18564.2);
                     Region: Interaction with HAX1.
                     /evidence=ECO:0000269|PubMed:17545607"
     regulatory      4615..4620
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /note="hexamer: AATAAA"
     polyA_site      4641
                     /gene="ITGB6"
                     /gene_synonym="AI1H"
                     /note="major polyA site"
ORIGIN
        1 gctttacctg tccaggtagc ctctgttttc atttcagtct taatgaaaac tttctaactt
       61 atatctcaag tttcttttca aagcagtgta agtagtattt aaaatgttat acttcaagaa
      121 agaaagactt taacgatatt cagcgttggt cttgtaacgc tgaaggtaat tcatttttta
      181 atcggtctgc acagcaagaa ctgaaacgaa tggggattga actgctttgc ctgttctttc
      241 tatttctagg aaggaatgat cacgtacaag gtggctgtgc cctgggaggt gcagaaacct
      301 gtgaagactg cctgcttatt ggacctcagt gtgcctggtg tgctcaggag aattttactc
      361 atccatctgg agttggcgaa aggtgtgata ccccagcaaa ccttttagct aaaggatgtc
      421 aattaaactt catcgaaaac cctgtctccc aagtagaaat acttaaaaat aagcctctca
      481 gtgtaggcag acagaaaaat agttctgaca ttgttcagat tgcgcctcaa agcttgatcc
      541 ttaagttgag accaggtggt gcgcagactc tgcaggtgca tgtccgccag actgaggact
      601 acccggtgga tttgtattac ctcatggacc tctccgcctc catggatgac gacctcaaca
      661 caataaagga gctgggctcc cggctttcca aagagatgtc taaattaacc agcaacttta
      721 gactgggctt cggatctttt gtggaaaaac ctgtatcccc ttttgtgaaa acaacaccag
      781 aagaaattgc caacccttgc agtagtattc catacttctg tttacctaca tttggattca
      841 agcacatttt gccattgaca aatgatgctg aaagattcaa tgaaattgtg aagaatcaga
      901 aaatttctgc taatattgac acacccgaag gtggatttga tgcaattatg caagctgctg
      961 tgtgtaagga aaaaattggc tggcggaatg actccctcca cctcctggtc tttgtgagtg
     1021 atgctgattc tcattttgga atggacagca aactagcagg catcgtcatt cctaatgacg
     1081 ggctctgtca cttggacagc aagaatgaat actccatgtc aactgtcttg gaatatccaa
     1141 caattggaca actcattgat aaactggtac aaaacaacgt gttattgatc ttcgctgtaa
     1201 cccaagaaca agttcattta tatgagaatt acgcaaaact tattcctgga gctacagtag
     1261 gtctacttca gaaggactcc ggaaacattc tccagctgat catctcagct tatgaagaac
     1321 tgcggtctga ggtggaactg gaagtattag gagacactga aggactcaac ttgtcattta
     1381 cagccatctg taacaacggt accctcttcc aacaccaaaa gaaatgctct cacatgaaag
     1441 tgggagacac agcttccttc agcgtgactg tgaatatccc acactgcgag agaagaagca
     1501 ggcacattat cataaagcct gtggggctgg gggatgccct ggaattactt gtcagcccag
     1561 aatgcaactg cgactgtcag aaagaagtgg aagtgaacag ctccaaatgt caccacggga
     1621 acggctcttt ccagtgtggg gtgtgtgcct gccaccctgg ccacatgggg cctcgctgtg
     1681 agtgtggcga ggacatgctg agcacagatt cctgcaagga ggccccagat catccctcct
     1741 gcagcggaag gggtgactgc tactgtgggc agtgtatctg ccacttgtct ccctatggaa
     1801 acatttatgg gccttattgc cagtgtgaca atttctcctg cgtgagacac aaagggctgc
     1861 tctgcggagg taacggcgac tgtgactgtg gtgaatgtgt gtgcaggagc ggctggactg
     1921 gcgagtactg caactgcacc accagcacgg actcctgcgt ctctgaagat ggagtgctct
     1981 gcagcgggcg cggggactgt gtttgtggca agtgtgtttg cacaaaccct ggagcctcag
     2041 gaccaacctg tgaacgatgt cctacctgtg gtgacccctg taactctaaa cggagctgca
     2101 ttgagtgcca cctgtcagca gctggccaag cccgagaaga atgtgtggac aagtgcaaac
     2161 tagctggtgc gaccatcagt gaagaagaag atttctcaaa ggatggttct gtttcctgct
     2221 ctctgcaagg agaaaatgaa tgtcttatta cattcctaat aactacagat aatgagggga
     2281 aaaccatcat tcacagcatc aatgaaaaag attgtccgaa gcctccaaac attcccatga
     2341 tcatgttagg ggtttccctg gctattcttc tcatcggggt tgtcctactg tgcatctgga
     2401 agctactggt gtcatttcat gatcgtaaag aagttgccaa atttgaagca gaacgatcaa
     2461 aagccaagtg gcaaacggga accaatccac tctacagagg atccacaagt acttttaaaa
     2521 atgtaactta taaacacagg gaaaaacaaa aggtagacct ttccacagat tgctagaact
     2581 actttatgca tgaaaaaagt ctgtttcact gatatgaaat gttaatgcac tatttaattt
     2641 ttttctcttt gttgcttcaa aatgaggttg gtttaagata ataataggac atctgcagat
     2701 aagtcatcct ctacatgaag gtgacagact gttggcagtt tcaaaataat caagaagaga
     2761 aatatcctta gcaaagagat gactttgggg atcatttgag gaatactaac tctgttgcat
     2821 taatgcttca aaaaatcatc aaatgattca tgggggcctg atttgcattt gaaaaatgtt
     2881 tgaaattaga gtctcatttg tttcaggaat gcagctacct gagttttttg tctcggcaaa
     2941 gtcacaaagc ccatatactc acattgtgtg tctatacttg ccaattaatt ctaaacttgt
     3001 aggaaatatg ccctctctta aaggagaatt ttttttaaat ctctgagaaa tgagattctg
     3061 agtttatttc agctaaaagg ttgcaattct tctgaagata tctcaaatat aaggttgaaa
     3121 gttaagtgtt aataattttt gtgaatttat acacacctaa acgttaagta cacaaatatt
     3181 ttatttgttt tacaaataag gaataagtaa tttataaatt aagaagttac ctataaaaat
     3241 aaaaagataa caaccctatc atatagctta tttttaaatt acctgaaaaa cgatattcta
     3301 cactgtttcc tttttgactc tgagttttca aactgttact tctcccatat ttctcaatcc
     3361 atttcactca gttgcacagt cttttaaacc ctgtaattgt cataccaaag tttcttttta
     3421 aaaaaaaatt actttaaatg cttagtttat tcaaagagcg atccaataat ataaaaggaa
     3481 catgtgttaa acacaataaa attttaaatg gctctaaatc aagcacatca agagtataca
     3541 agtcttaaag gctttttaat acatactctt ttcccatcta tgtaacccaa cttgcacatt
     3601 tcagctgcat gtggtgaata tgcatcatat atttacttta agaggtaaga ttttacttgc
     3661 aaaatacatg tgcaaattag ggatccatca gttgatggaa gagatggact ctagaatatt
     3721 atttcttgtg gttattactc ctttacaaag cactttcgtc tcacttgatc ctcataagga
     3781 aactaaggct cagaatgagt agagctgggt tcagaatcta gctcttctaa ctccaagcca
     3841 tctcctcttt ccactgcagg aaactgcctc ttttgtcagt gaaataatag aaagattgtg
     3901 ttagttaagt gataactgtc atttgtttga aaatgttcga gactgaacaa atagcattta
     3961 aactgctggc atatagatga gatattgtac ttttgtgcaa tgtttattac ctttgattaa
     4021 attgtaatgt gaagctttta ctaggtgaat agttcattat gtagtggagg cttcgtggtt
     4081 gtccattgaa ttgtcacagc aaaatctata agtttcttca attctacaag atagatccat
     4141 atacctttga tcacttggag actctttttt tgctggtttc tagataactc aggtaaatca
     4201 gacctttaca gagtacaggg ctaggtgaaa gaattactga aaaatcacct tgaaaatccg
     4261 aagggctgat atacccttta tgttcctgac tgatgcgcag aacctggggg aaatctacag
     4321 caatatacag gttgcaatgc tgataacaca acagcaatcc tctcctctac gtggacttac
     4381 tgttgttttt ttaattatta ttggaatggg attttagaaa atagaagtta cctttgtgtg
     4441 tgttttaggg aaggtagaga agaatctgct ctttctctga atactgtttt gaccccaggc
     4501 aggaccttgg aaaggccaaa acattaacag tagtacttct gttcactgaa gagttatgtt
     4561 acatgaagat aaaatggttt tgtcgtgttt attattgtat tttgtgttga tataaataaa
     4621 catggtaatt taaacaatga a
//
LOCUS       NM_000889               2806 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens integrin subunit beta 7 (ITGB7), transcript variant 1,
            mRNA.
ACCESSION   NM_000889
VERSION     NM_000889.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2806)
  AUTHORS   Roy Choudhury S, Byrum SD, Alkam D, Ashby C, Zhan F, Tackett AJ and
            Van Rhee F.
  TITLE     Expression of integrin beta-7 is epigenetically enhanced in multiple
            myeloma subgroups with high-risk cytogenetics
  JOURNAL   Clin Epigenetics 15 (1), 18 (2023)
   PUBMED   36737807
  REMARK    GeneRIF: Expression of integrin beta-7 is epigenetically enhanced in
            multiple myeloma subgroups with high-risk cytogenetics. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 2806)
  AUTHORS   Xu T, Liu J, Xia Y, Wang Z, Li X and Gao Q.
  TITLE     Integrated analysis reveals the participation of IL4I1, ITGB7, and
            FUT7 in reshaping the TNBC immune microenvironment by targeting
            glycolysis
  JOURNAL   Ann Med 53 (1), 916-928 (2021)
   PUBMED   34134578
  REMARK    GeneRIF: Integrated analysis reveals the participation of IL4I1,
            ITGB7, and FUT7 in reshaping the TNBC immune microenvironment by
            targeting glycolysis.
REFERENCE   3  (bases 1 to 2806)
  AUTHORS   Hosen N, Yoshihara S, Takamatsu H, Ri M, Nagata Y, Kosugi H,
            Shimomura Y, Hanamura I, Fuji S, Minauchi K, Kuroda J, Suzuki R,
            Nishimura N, Uoshima N, Nakamae H, Kawano Y, Mizuno I, Gomyo H,
            Suzuki K, Ozaki S, Nakamura S, Imai Y, Kizaki M, Negoro E, Handa H
            and Iida S.
  TITLE     Expression of activated integrin beta7 in multiple myeloma patients
  JOURNAL   Int J Hematol 114 (1), 3-7 (2021)
   PUBMED   33999338
  REMARK    GeneRIF: Expression of activated integrin beta7 in multiple myeloma
            patients.
REFERENCE   4  (bases 1 to 2806)
  AUTHORS   Mora JR, Bono MR, Manjunath N, Weninger W, Cavanagh LL, Rosemblatt M
            and Von Andrian UH.
  TITLE     Selective imprinting of gut-homing T cells by Peyer's patch
            dendritic cells
  JOURNAL   Nature 424 (6944), 88-93 (2003)
   PUBMED   12840763
REFERENCE   5  (bases 1 to 2806)
  AUTHORS   Erle DJ, Brown T, Christian D and Aris R.
  TITLE     Lung epithelial lining fluid T cell subsets defined by distinct
            patterns of beta 7 and beta 1 integrin expression
  JOURNAL   Am J Respir Cell Mol Biol 10 (3), 237-244 (1994)
   PUBMED   7509610
REFERENCE   6  (bases 1 to 2806)
  AUTHORS   Jiang WM, Jenkins D, Yuan Q, Leung E, Choo KH, Watson JD and
            Krissansen GW.
  TITLE     The gene organization of the human beta 7 subunit, the common beta
            subunit of the leukocyte integrins HML-1 and LPAM-1
  JOURNAL   Int Immunol 4 (9), 1031-1040 (1992)
   PUBMED   1382574
REFERENCE   7  (bases 1 to 2806)
  AUTHORS   Ruegg C, Postigo AA, Sikorski EE, Butcher EC, Pytela R and Erle DJ.
  TITLE     Role of integrin alpha 4 beta 7/alpha 4 beta P in lymphocyte
            adherence to fibronectin and VCAM-1 and in homotypic cell clustering
  JOURNAL   J Cell Biol 117 (1), 179-189 (1992)
   PUBMED   1372909
REFERENCE   8  (bases 1 to 2806)
  AUTHORS   Parker CM, Cepek KL, Russell GJ, Shaw SK, Posnett DN, Schwarting R
            and Brenner MB.
  TITLE     A family of beta 7 integrins on human mucosal lymphocytes
  JOURNAL   Proc Natl Acad Sci U S A 89 (5), 1924-1928 (1992)
   PUBMED   1542691
REFERENCE   9  (bases 1 to 2806)
  AUTHORS   Baker E, Sutherland GR, Jiang WM, Yuan Q, Leung E, Watson JD and
            Krissansen GW.
  TITLE     Mapping of the human integrin beta 7 gene (ITG beta 7) to 12q13.13
            by non-isotopic in situ hybridization
  JOURNAL   Mamm Genome 2 (4), 272-273 (1992)
   PUBMED   1543919
REFERENCE   10  (bases 1 to 2806)
  AUTHORS   Erle DJ, Ruegg C, Sheppard D and Pytela R.
  TITLE     Complete amino acid sequence of an integrin beta subunit (beta 7)
            identified in leukocytes
  JOURNAL   J Biol Chem 266 (17), 11009-11016 (1991)
   PUBMED   2040616
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: S80335.1, SRR1163655.140810.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000267082.10/ ENSP00000267082.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC296007.1 and S80335.1.
            On Nov 22, 2018 this sequence version replaced NM_000889.2.
            Summary: This gene encodes a protein that is a member of the
            integrin superfamily. Members of this family are adhesion receptors
            that function in signaling from the extracellular matrix to the
            cell. Integrins are heterodimeric integral membrane proteins
            composed of an alpha chain and a beta chain. The encoded protein
            forms dimers with an alpha4 chain or an alphaE chain and plays a
            role in leukocyte adhesion. Dimerization with alpha4 forms a homing
            receptor for migration of lymphocytes to the intestinal mucosa and
            Peyer's patches. Dimerization with alphaE permits binding to the
            ligand epithelial cadherin, a calcium-dependent adhesion molecule.
            Alternate splicing results in multiple transcript variants.
            Additional alternatively spliced transcript variants of this gene
            have been described, but their full-length nature is not known.
            [provided by RefSeq, Sep 2013].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). Variants 1 and 3-8 all encode the same isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2806
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2806
                     /gene="ITGB7"
                     /note="integrin subunit beta 7"
                     /db_xref="GeneID:3695"
                     /db_xref="HGNC:HGNC:6162"
                     /db_xref="MIM:147559"
     misc_feature    81..83
                     /gene="ITGB7"
                     /note="upstream in-frame stop codon"
     CDS             177..2573
                     /gene="ITGB7"
                     /note="isoform a precursor is encoded by transcript variant
                     1; integrin beta-7; integrin beta 7 subunit; gut homing
                     receptor beta subunit"
                     /codon_start=1
                     /product="integrin beta-7 isoform a precursor"
                     /protein_id="NP_000880.1"
                     /db_xref="CCDS:CCDS8849.1"
                     /db_xref="GeneID:3695"
                     /db_xref="HGNC:HGNC:6162"
                     /db_xref="MIM:147559"
                     /translation="MVALPMVLVLLLVLSRGESELDAKIPSTGDATEWRNPHLSMLGSC
                     QPAPSCQKCILSHPSCAWCKQLNFTASGEAEARRCARREELLARGCPLEELEEPRGQQE
                     VLQDQPLSQGARGEGATQLAPQRVRVTLRPGEPQQLQVRFLRAEGYPVDLYYLMDLSYS
                     MKDDLERVRQLGHALLVRLQEVTHSVRIGFGSFVDKTVLPFVSTVPSKLRHPCPTRLER
                     CQSPFSFHHVLSLTGDAQAFEREVGRQSVSGNLDSPEGGFDAILQAALCQEQIGWRNVS
                     RLLVFTSDDTFHTAGDGKLGGIFMPSDGHCHLDSNGLYSRSTEFDYPSVGQVAQALSAA
                     NIQPIFAVTSAALPVYQELSKLIPKSAVGELSEDSSNVVQLIMDAYNSLSSTVTLEHSS
                     LPPGVHISYESQCEGPEKREGKAEDRGQCNHVRINQTVTFWVSLQATHCLPEPHLLRLR
                     ALGFSEELIVELHTLCDCNCSDTQPQAPHCSDGQGHLQCGVCSCAPGRLGRLCECSVAE
                     LSSPDLESGCRAPNGTGPLCSGKGHCQCGRCSCSGQSSGHLCECDDASCERHEGILCGG
                     FGRCQCGVCHCHANRTGRACECSGDMDSCISPEGGLCSGHGRCKCNRCQCLDGYYGALC
                     DQCPGCKTPCERHRDCAECGAFRTGPLATNCSTACAHTNVTLALAPILDDGWCKERTLD
                     NQLFFFLVEDDARGTVVLRVRPQEKGADHTQAIVLGCVGGIVAVGLGLVLAYRLSVEIY
                     DRREYSRFEKEQQQLNWKQDSNPLYKSAITTTINPRFQEADSPTL"
     sig_peptide     177..233
                     /gene="ITGB7"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     234..2570
                     /gene="ITGB7"
                     /product="Integrin beta-7. /id=PRO_0000016352"
                     /note="propagated from UniProtKB/Swiss-Prot (P26010.1)"
     misc_feature    378..380
                     /gene="ITGB7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P26010.1); glycosylation site"
     misc_feature    468..548
                     /gene="ITGB7"
                     /note="propagated from UniProtKB/Swiss-Prot (P26010.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1011..1013
                     /gene="ITGB7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22232704,
                     ECO:0007744|PDB:3V4P, ECO:0007744|PDB:3V4V; propagated from
                     UniProtKB/Swiss-Prot (P26010.1); glycosylation site"
     misc_feature    1476..1478
                     /gene="ITGB7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22232704,
                     ECO:0007744|PDB:3V4V; propagated from UniProtKB/Swiss-Prot
                     (P26010.1); glycosylation site"
     misc_feature    1605..1607
                     /gene="ITGB7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P26010.1); glycosylation site"
     misc_feature    1767..1769
                     /gene="ITGB7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P26010.1); glycosylation site"
     misc_feature    1944..1946
                     /gene="ITGB7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P26010.1); glycosylation site"
     misc_feature    2169..2171
                     /gene="ITGB7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P26010.1); glycosylation site"
     misc_feature    2196..2198
                     /gene="ITGB7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P26010.1); glycosylation site"
     misc_feature    2346..2414
                     /gene="ITGB7"
                     /note="propagated from UniProtKB/Swiss-Prot (P26010.1);
                     transmembrane region"
     misc_feature    2508..2510
                     /gene="ITGB7"
                     /note="Phosphotyrosine, by Tyr-kinases.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P26010.1); phosphorylation site"
     regulatory      2788..2793
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGB7"
                     /note="hexamer: AATAAA"
     polyA_site      2806
                     /gene="ITGB7"
                     /note="major polyA site"
ORIGIN
        1 acacaaaggc tgctgctgcc gccagaggaa ggactgctct gcacgcacct atgtggaaac
       61 taaagcccag agagaaagtc tgacttgccc cacagccagt gagtgactgc agcagcacca
      121 gaatctggtc tgtttcctgt ttggctcttc taccactacg gcttgggatc tcgggcatgg
      181 tggctttgcc aatggtcctt gttttgctgc tggtcctgag cagaggtgag agtgaattgg
      241 acgccaagat cccatccaca ggggatgcca cagaatggcg gaatcctcac ctgtccatgc
      301 tggggtcctg ccagccagcc ccctcctgcc agaagtgcat cctctcacac cccagctgtg
      361 catggtgcaa gcaactgaac ttcaccgcgt cgggagaggc ggaggcgcgg cgctgcgccc
      421 gacgagagga gctgctggct cgaggctgcc cgctggagga gctggaggag ccccgcggcc
      481 agcaggaggt gctgcaggac cagccgctca gccagggcgc ccgcggagag ggtgccaccc
      541 agctggcgcc gcagcgggtc cgggtcacgc tgcggcctgg ggagccccag cagctccagg
      601 tccgcttcct tcgtgctgag ggatacccgg tggacctgta ctaccttatg gacctgagct
      661 actccatgaa ggacgacctg gaacgcgtgc gccagctcgg gcacgctctg ctggtccggc
      721 tgcaggaagt cacccattct gtgcgcattg gttttggttc ctttgtggac aaaacggtgc
      781 tgccctttgt gagcacagta ccctccaaac tgcgccaccc ctgccccacc cggctggagc
      841 gctgccagtc accattcagc tttcaccatg tgctgtccct gacgggggac gcacaagcct
      901 tcgagcggga ggtggggcgc cagagtgtgt ccggcaatct ggactcgcct gaaggtggct
      961 tcgatgccat tctgcaggct gcactctgcc aggagcagat tggctggaga aatgtgtccc
     1021 ggctgctggt gttcacttca gacgacacat tccatacagc tggggacggg aagttgggcg
     1081 gcattttcat gcccagtgat gggcactgcc acttggacag caatggcctc tacagtcgca
     1141 gcacagagtt tgactaccct tctgtgggtc aggtagccca ggccctctct gcagcaaata
     1201 tccagcccat ctttgctgtc accagtgccg cactgcctgt ctaccaggag ctgagtaaac
     1261 tgattcctaa gtctgcagtt ggggagctga gtgaggactc cagcaacgtg gtacagctca
     1321 tcatggatgc ttataatagc ctgtcttcca ccgtgaccct tgaacactct tcactccctc
     1381 ctggggtcca catttcttac gaatcccagt gtgagggtcc tgagaagagg gagggtaagg
     1441 ctgaggatcg aggacagtgc aaccacgtcc gaatcaacca gacggtgact ttctgggttt
     1501 ctctccaagc cacccactgc ctcccagagc cccatctcct gaggctccgg gcccttggct
     1561 tctcagagga gctgattgtg gagttgcaca cgctgtgtga ctgtaattgc agtgacaccc
     1621 agccccaggc tccccactgc agtgatggcc agggacacct acaatgtggt gtatgcagct
     1681 gtgcccctgg ccgcctaggt cggctctgtg agtgctctgt ggcagagctg tcctccccag
     1741 acctggaatc tgggtgccgg gctcccaatg gcacagggcc cctgtgcagt ggaaagggtc
     1801 actgtcaatg tggacgctgc agctgcagtg gacagagctc tgggcatctg tgcgagtgtg
     1861 acgatgccag ctgtgagcga catgagggca tcctctgcgg aggctttggt cgctgccaat
     1921 gtggagtatg tcactgtcat gccaaccgca cgggcagagc atgcgaatgc agtggggaca
     1981 tggacagttg catcagtccc gagggagggc tctgcagtgg gcatggacgc tgcaaatgca
     2041 accgctgcca gtgcttggac ggctactatg gtgctctatg cgaccaatgc ccaggctgca
     2101 agacaccatg cgagagacac cgggactgtg cagagtgtgg ggccttcagg actggcccac
     2161 tggccaccaa ctgcagtaca gcttgtgccc ataccaatgt gaccctggcc ttggccccta
     2221 tcttggatga tggctggtgc aaagagcgga ccctggacaa ccagctgttc ttcttcttgg
     2281 tggaggatga cgccagaggc acggtcgtgc tcagagtgag accccaagaa aagggagcag
     2341 accacacgca ggccattgtg ctgggctgcg tagggggcat cgtggcagtg gggctggggc
     2401 tggtcctggc ttaccggctc tcggtggaaa tctatgaccg ccgggaatac agtcgctttg
     2461 agaaggagca gcaacaactc aactggaagc aggacagtaa tcctctctac aaaagtgcca
     2521 tcacgaccac catcaatcct cgctttcaag aggcagacag tcccactctc tgaaggaggg
     2581 agggacactt acccaaggct cttctccttg gaggacagtg ggaactggag ggtgagagga
     2641 agggtgggtc tgtaagacct tggtagggga ctaattcact ggcgaggtgc ggccaccacc
     2701 ctacttcatt ttcagagtga cacccaagag ggctgcttcc catgcctgca accttgcatc
     2761 catctgggct accccaccca agtatacaat aaagtcttac ctcaga
//
LOCUS       NM_000890               6068 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens potassium inwardly rectifying channel subfamily J
            member 5 (KCNJ5), transcript variant 1, mRNA.
ACCESSION   NM_000890
VERSION     NM_000890.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6068)
  AUTHORS   Kishimoto S, Oki K, Maruhashi T, Kajikawa M, Mizobuchi A, Harada T,
            Yamaji T, Hashimoto Y, Yoshimura K, Nakano Y, Goto C, Yusoff FM,
            Nakashima A and Higashi Y.
  TITLE     KCNJ5 mutation is a predictor for recovery of endothelial function
            after adrenalectomy in patients with aldosterone-producing adenoma
  JOURNAL   Hypertens Res 46 (9), 2213-2227 (2023)
   PUBMED   37463983
  REMARK    GeneRIF: KCNJ5 mutation is a predictor for recovery of endothelial
            function after adrenalectomy in patients with aldosterone-producing
            adenoma.
REFERENCE   2  (bases 1 to 6068)
  AUTHORS   Chang YY, Lee BC, Chen ZW, Tsai CH, Chang CC, Liao CW, Pan CT, Peng
            KY, Chou CH, Lu CC, Wu VC, Hung CS and Lin YH.
  CONSRTM   TAIPAI study group
  TITLE     Cardiovascular and metabolic characters of KCNJ5 somatic mutations
            in primary aldosteronism
  JOURNAL   Front Endocrinol (Lausanne) 14, 1061704 (2023)
   PUBMED   36950676
  REMARK    GeneRIF: Cardiovascular and metabolic characters of KCNJ5 somatic
            mutations in primary aldosteronism. Review article Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 6068)
  AUTHORS   Funder JW.
  TITLE     Genetic disorders in primary aldosteronism-familial and somatic
  JOURNAL   J Steroid Biochem Mol Biol 165 (Pt A), 154-157 (2017)
   PUBMED   27013018
  REMARK    Review article
REFERENCE   4  (bases 1 to 6068)
  AUTHORS   Cheng CJ, Sung CC, Huang CL and Lin SH.
  TITLE     Inward-rectifying potassium channelopathies: new insights into
            disorders of sodium and potassium homeostasis
  JOURNAL   Pediatr Nephrol 30 (3), 373-383 (2015)
   PUBMED   24899236
  REMARK    Review article
REFERENCE   5  (bases 1 to 6068)
  AUTHORS   Kang YA, Hu YR and Li NF.
  TITLE     Advances in research on G protein-coupled inward rectifier K(+)
            channel gene
  JOURNAL   Zhongguo Yi Xue Ke Xue Yuan Xue Bao 34 (4), 426-430 (2012)
   PUBMED   22954132
  REMARK    Review article
REFERENCE   6  (bases 1 to 6068)
  AUTHORS   Spauschus A, Lentes KU, Wischmeyer E, Dissmann E, Karschin C and
            Karschin A.
  TITLE     A G-protein-activated inwardly rectifying K+ channel (GIRK4) from
            human hippocampus associates with other GIRK channels
  JOURNAL   J Neurosci 16 (3), 930-938 (1996)
   PUBMED   8558261
REFERENCE   7  (bases 1 to 6068)
  AUTHORS   Tucker SJ, James MR and Adelman JP.
  TITLE     Assignment of KATP-1, the cardiac ATP-sensitive potassium channel
            gene (KCNJ5), to human chromosome 11q24
  JOURNAL   Genomics 28 (1), 127-128 (1995)
   PUBMED   7590741
REFERENCE   8  (bases 1 to 6068)
  AUTHORS   Doupnik CA, Davidson N and Lester HA.
  TITLE     The inward rectifier potassium channel family
  JOURNAL   Curr Opin Neurobiol 5 (3), 268-277 (1995)
   PUBMED   7580148
  REMARK    Review article
REFERENCE   9  (bases 1 to 6068)
  AUTHORS   Veerapandiyan,A., Statland,J.M. and Tawil,R.
  TITLE     Andersen-Tawil Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301441
REFERENCE   10  (bases 1 to 6068)
  AUTHORS   Alders,M., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301308
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK312837.1, SRR1803614.92301.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000529694.6/ ENSP00000433295.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312837.1 and AP000920.4.
            On Nov 22, 2018 this sequence version replaced NM_000890.4.
            Summary: This gene encodes an integral membrane protein which
            belongs to one of seven subfamilies of inward-rectifier potassium
            channel proteins called potassium channel subfamily J. The encoded
            protein is a subunit of the potassium channel which is
            homotetrameric. It is controlled by G-proteins and has a greater
            tendency to allow potassium to flow into a cell rather than out of
            a cell. Naturally occurring mutations in this gene are associated
            with aldosterone-producing adenomas. [provided by RefSeq, Aug
            2017].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6068
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.3"
     gene            1..6068
                     /gene="KCNJ5"
                     /gene_synonym="CIR; GIRK4; KATP1; KIR3.4; LQT13"
                     /note="potassium inwardly rectifying channel subfamily J
                     member 5"
                     /db_xref="GeneID:3762"
                     /db_xref="HGNC:HGNC:6266"
                     /db_xref="MIM:600734"
     misc_feature    311..313
                     /gene="KCNJ5"
                     /gene_synonym="CIR; GIRK4; KATP1; KIR3.4; LQT13"
                     /note="upstream in-frame stop codon"
     CDS             377..1636
                     /gene="KCNJ5"
                     /gene_synonym="CIR; GIRK4; KATP1; KIR3.4; LQT13"
                     /note="inward rectifier K+ channel KIR3.4; heart KATP
                     channel; cardiac ATP-sensitive potassium channel; potassium
                     voltage-gated channel subfamily J member 5; IRK-4;
                     potassium channel, inwardly rectifying subfamily J, member
                     5"
                     /codon_start=1
                     /product="G protein-activated inward rectifier potassium
                     channel 4"
                     /protein_id="NP_000881.3"
                     /db_xref="CCDS:CCDS8479.1"
                     /db_xref="GeneID:3762"
                     /db_xref="HGNC:HGNC:6266"
                     /db_xref="MIM:600734"
                     /translation="MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAE
                     GKKPRQRYMEKSGKCNVHHGNVQETYRYLSDLFTTLVDLKWRFNLLVFTMVYTVTWLFF
                     GFIWWLIAYIRGDLDHVGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEKCPE
                     GIILLLVQAILGSIVNAFMVGCMFVKISQPKKRAETLMFSNNAVISMRDEKLCLMFRVG
                     DLRNSHIVEASIRAKLIKSRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHEIN
                     QKSPFWEMSQAQLHQEEFEVVVILEGMVEATGMTCQARSSYMDTEVLWGHRFTPVLTLE
                     KGFYEVDYNTFHDTYETNTPSCCAKELAEMKREGRLLQYLPSPPLLGGCAEAGLDAEAE
                     QNEEDEPKGLGGSREARGSV"
     misc_feature    389..391
                     /gene="KCNJ5"
                     /gene_synonym="CIR; GIRK4; KATP1; KIR3.4; LQT13"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P48542; propagated from
                     UniProtKB/Swiss-Prot (P48544.2); phosphorylation site"
     misc_feature    635..709
                     /gene="KCNJ5"
                     /gene_synonym="CIR; GIRK4; KATP1; KIR3.4; LQT13"
                     /note="propagated from UniProtKB/Swiss-Prot (P48544.2);
                     transmembrane region"
     misc_feature    821..838
                     /gene="KCNJ5"
                     /gene_synonym="CIR; GIRK4; KATP1; KIR3.4; LQT13"
                     /note="propagated from UniProtKB/Swiss-Prot (P48544.2);
                     Region: Selectivity filter. /evidence=ECO:0000250"
     misc_feature    866..931
                     /gene="KCNJ5"
                     /gene_synonym="CIR; GIRK4; KATP1; KIR3.4; LQT13"
                     /note="propagated from UniProtKB/Swiss-Prot (P48544.2);
                     transmembrane region"
     misc_feature    911..913
                     /gene="KCNJ5"
                     /gene_synonym="CIR; GIRK4; KATP1; KIR3.4; LQT13"
                     /note="Role in the control of polyamine-mediated channel
                     gating and in the blocking by intracellular magnesium.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P48544.2); other site"
     misc_feature    1544..1633
                     /gene="KCNJ5"
                     /gene_synonym="CIR; GIRK4; KATP1; KIR3.4; LQT13"
                     /note="propagated from UniProtKB/Swiss-Prot (P48544.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4499..4504
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ5"
                     /gene_synonym="CIR; GIRK4; KATP1; KIR3.4; LQT13"
                     /note="hexamer: AATAAA"
     polyA_site      4519
                     /gene="KCNJ5"
                     /gene_synonym="CIR; GIRK4; KATP1; KIR3.4; LQT13"
     regulatory      6046..6051
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ5"
                     /gene_synonym="CIR; GIRK4; KATP1; KIR3.4; LQT13"
                     /note="hexamer: AATAAA"
     polyA_site      6068
                     /gene="KCNJ5"
                     /gene_synonym="CIR; GIRK4; KATP1; KIR3.4; LQT13"
                     /note="major polyA site"
ORIGIN
        1 atttgtacca gggacggagg gagagaggag agggaggagg ggacacacac acacacacac
       61 acacacacac acacacacac acacacagag agagagagag agagagagag agagagagag
      121 attgttccag ctgctctcgc tagagaaagg gagtgaccca aggggccgcg agtgaaggga
      181 caggatggct taggtacctc tgcccacagg accccacaac agggagaggt tccagctaca
      241 gctcctccgt ggggtcatgg caggggctgg ggagtcccct caaaagccct gagcccccct
      301 gcaccgccgc taagggacac cccagaagtt agcatcagtg ggactcggaa gctccgatct
      361 caacaacatc ccagctatgg ctggcgattc taggaatgcc atgaaccagg acatggagat
      421 tggagtcact ccctgggacc ccaagaagat tccaaaacag gcccgcgatt atgtccccat
      481 tgccacagac cgtacgcgcc tgctggccga gggcaagaag ccacgccagc gctacatgga
      541 gaagagtggc aagtgcaacg tgcaccacgg caacgtccag gagacctacc ggtacctgag
      601 tgacctcttc accaccctgg tggacctcaa gtggcgcttc aacttgctcg tcttcaccat
      661 ggtttacact gtcacctggc tgttcttcgg cttcatttgg tggctcattg cttatatccg
      721 gggtgacctg gaccatgttg gcgaccaaga gtggattcct tgtgttgaaa acctcagtgg
      781 cttcgtgtcc gctttcctgt tctccattga gaccgaaaca accattgggt atggcttccg
      841 agtcatcaca gagaagtgtc cagaggggat tatactcctc ttggtccagg ccatcctggg
      901 ctccatcgtc aatgccttca tggtggggtg catgtttgtc aagatcagcc agcccaagaa
      961 gagagcggag accctcatgt tttccaacaa cgcagtcatc tccatgcggg acgagaagct
     1021 gtgcctcatg ttccgggtgg gcgacctccg caactcccac atcgtggagg cctccatccg
     1081 ggccaagctc atcaagtccc ggcagaccaa agagggggag ttcatccccc tgaaccagac
     1141 agacatcaac gtgggctttg acacgggcga cgaccgcctc ttccttgtgt ctcctctgat
     1201 catctcccat gagatcaacc agaagagccc tttctgggag atgtctcagg ctcagctgca
     1261 tcaggaagag tttgaagttg tggtcattct agaagggatg gtggaagcca caggcatgac
     1321 ctgccaagcc cggagctcct acatggatac agaggtgctc tggggccacc gattcacacc
     1381 agtcctcacc ttggaaaagg gcttctatga ggtggactac aacaccttcc atgataccta
     1441 tgagaccaac acacccagct gctgtgccaa ggagctggca gaaatgaaga gggaaggccg
     1501 gctcctccag tacctcccca gccccccact gctggggggc tgtgctgagg cagggctgga
     1561 tgcagaggct gagcagaatg aagaagatga gcccaagggg ctgggtgggt ccagggaggc
     1621 caggggctcg gtgtgagggg tgcagcctcc ctaagacctc ctgtcactgg cttcagtgaa
     1681 cacagacact gcagagcctg ggagcagggg aggggaatag ttgagtgtgc tgtttggggg
     1741 ctcaggagcc atcaaggctg tggggaggaa ccataaaccc agccctcaca gctcccagca
     1801 cagggcctcc ctgagccagt ggcatcctgc ctgggccccc catggcagtg ctgcctcttg
     1861 taggtgctgg ctaagggcca ggccaggatg agtttcccca tggtgaatgt taccggatgg
     1921 catctgttct ctccatgccc tgggtcactt ccttttttgg gtctcacaga cccctccagg
     1981 ggctgacacc tagagagaac catcaccttg tccctcattc cttccaccct gaggcttgct
     2041 gtggactcag agaggagact tacctgatga gagctcaaac ctctagtctg ggatgagctc
     2101 acagagccct catgagttaa gatccatcca tatcacatag gcaattcctt ttaaatcaga
     2161 taccaacgac ccattactga gaggtacaga gcgtacagcc cttggtgttc tctgctgtta
     2221 tctgccaaat gtgtgtgttt ttcctctgct gtgttctgtg tgtccagtgt agcctattgg
     2281 agaatcggtc tcattagagt gactcttaga aggtggcctg ggactagaca gcccctctga
     2341 gcacatgcat agtggcatca gcagcttcct ggcctactcc caatcacact gtgccctgca
     2401 cctcccacca agggggaacc ccagcagctg gggcttttcg agtgcttttt ggcccaagaa
     2461 tctcagagtg cttctaatca tcacagtagt ttttgtgttt tgttttgttt tgttttgttt
     2521 tgttttgttt tgttttgttt ttttcacaat ctcagccagc ctgcggtgtg acctggggag
     2581 aaagttgagt gtcaggggac atgatgagcc agttggccct gaaacaggaa tggggcaaag
     2641 agaaaggaga gccaggagca tttaaaaatc agcatctggg ccaggcaaga tggctcacgc
     2701 ctgtgatccc agcattttgg gaggccgagg cgggtggatc atgaggtcag gagatcgaga
     2761 ccatcctggc taacacggtg aaaccccgtc tctactgaaa atacaaaaaa ttagccaggc
     2821 atggtggcag gtgcctgtag tcccagctac tcgggaagct gaggcagaag aatggcatga
     2881 acctgggagg tggaggttgc agtgagccaa gatcatgcca ctgcactcca gcctgggcga
     2941 cagagcgaga ctccatctca aaaaaaaaaa aaacatcagc atctgcccca gttgtggcca
     3001 agacactctg acctcagggc tcagcacctt caccatcaag ttcagcctga gccaagctcc
     3061 cagcccactg ctgaaaagcc cctgggcctc cctccacagg cagagttaca accgggaggg
     3121 ctgggcaggg agggcaggga gattgcctgg ggaaggcaaa gggaatggct gcccctccca
     3181 ggctggaaac aagagggcaa gcggggtcag caggagaatt cgggggcagg gtgagtgtta
     3241 agaaaaaaag agtagagaag agcctgaaaa tcagcaactt ccagggcttt tctgatctgg
     3301 aggcccaaga gcaagggtgg aggggggcag attgtcaggt cccgaaatgt gtgttgacac
     3361 acacgggctt cgggttagct ggcctgacat ggagatagag tgccaatgtt cccaggccac
     3421 agaattatgg aggcctcacc cacagtattc acagctctca actggccttt gagaatggaa
     3481 gccttttcct gccctggata tggcgcttct tcctgggaga ggagcagagc cacagagagg
     3541 taggaagttg aggcagagca aagggaaggc ttcagagctt aggcccggtt catctcagaa
     3601 gtgttttcta ggcctggggc tgaaaggaag aggggtgggg cagcctggga cgggaactgc
     3661 ctctgtgggc tccccactcc cagggagggg ctccataagc tttgctcctg ggctggatct
     3721 tgagaggtgg gcagggtctt cccaccagtg gcagggtgtg cagttgtggt cccaagcctt
     3781 ggagggaatg gggaatgggc tggcacccgg ctcagggaaa gcagaagcag acagtgcccc
     3841 agcaggggag ctgcatgccc ccaggagtct cagaaaggca gcccatcact aaggctggat
     3901 gcctttcagc agagctacag ctggagccct ccggctgagg ccagcactcg cctgggactc
     3961 cctggacccc agggttacta acagcaaaac cattccacac ccccttgcca gatctaagcc
     4021 tgtcttagga ccgtcagtgc ccccaggtta gagctcatgg gggtcaacta agcgagggag
     4081 ggaaggcgaa ggcaaagctg gccttgcacc tggacagcgg cctggctcct ccccacacct
     4141 gccttcattt atgactctga aacatccccc acctgaccaa gggagccact ctccagttct
     4201 ctcactccac cagggccctc cgtgagccag gaccaggtca catctctcag ccaagtctag
     4261 aagctctggc tagaggagag gaagcgtgca gagggtcctc tgccaaagct ccctgcctgg
     4321 cccgagcccg ggcatgctgg gattagtgca acaccgcccc agtgtgcctc ctctgccttc
     4381 tatcatgcca gtttaaaagc aagaagactc ccccttcaca tcctgaggaa atccccttcc
     4441 tggtgaccaa ctgatgcaat gaaagtttga aaagttcttc attttctaga agttcttgaa
     4501 taaacatgga cttactaaat gcagagtctg atgatggaca gagtttcaag gggtcacttt
     4561 caaaacattt aattaattta tttatgtaga gacagggtct cgctctgtcg cccaggctgg
     4621 agtgcagtgg tacaacctca gctcactgca acctctgcca cctcccaggt tcaagcgatt
     4681 ctcatgcttc agcctcctga gtagctggga ttacaggcat gagccaccac gcccagccat
     4741 tttcaaaaca ctgctcctgc atacaaacca ctcagaggcc actgcccttg gttctgtgat
     4801 ggctctgagc ccatgccatc acatctgatg gaccccagag agctgagccg tggtttaaga
     4861 tggggtcatg cgctggtcat tcccacagtc ttgagtatct ccaaaatccc aaagtgatat
     4921 ttcactttcg gaccctgaaa gtttggagag ctggtttctt gccttaattt aagctctctg
     4981 agaatgtccc ctgtagggag aagcctccag gaactcagaa tagaactcgt tcccactcat
     5041 tttccttgct ccaccaatct gacgcctgac agatgtcacc actgcctgaa ggatcctgtc
     5101 cccaggccag ggcagaatgg gcattgcctt tgactctccc cttcagactc ccctcccacc
     5161 ggcctcctgt gtagtcagag aacccactgc ccatcgcctc ctgctgctgc tttgaggttg
     5221 aggtcctggc ttgagcagtt accttgctgg agaagaggag cccctgccat ctggggagca
     5281 ctgtccctgc tcgtgatctg taacagtggg gcgctttttc acacccctta tctcacggct
     5341 tgcttccagc ccccatcaat cctgtgcctc atgtgaggtg agccccagag aaacttaaat
     5401 tgcttgtact gaagttgcca aaaaccaaaa gttgcccgtt gtcattttta agactgtgcc
     5461 ctgaacacac ctctgcccat gcgccatgga gcatgtgtta ggtgcctgcc gtgggtcagg
     5521 cacttgattc tcaaaacact gccgagaagc tcttaccaac gtgacagttg aggctgagag
     5581 aggttcatga gcttgctcaa ggccacgggt agtaataaga ggcatggcct tggtgccaag
     5641 tgcctcccaa acaaacagcc ggggccgtgg tcctgcctaa actctcacat ccacggcacc
     5701 acgctgggcc caggcaacag agataaggag agccctggct cttgggatgg ggtcgcgccg
     5761 attcacatgc tgtgccacgg agccccggct tccatccatg atgtgcccct gtggcgggat
     5821 aattgggaaa caaccttttt ctgattccca gagaactaat gagctgcaaa aagagattag
     5881 acagggaaga attgctttcg gggagaagcc acttactcgg ctcgccttgg tttttgctaa
     5941 caacgtctcc ttaaactgct gtcaaatctt tttctccctg tgtaggattc atcaatcttc
     6001 gtatgcaaaa gaacaccact gcactgcact gctaaaaatt cacacaataa aatggacttt
     6061 aacttgca
//
LOCUS       NM_000891               5391 bp    mRNA    linear   PRI 09-JUL-2023
DEFINITION  Homo sapiens potassium inwardly rectifying channel subfamily J
            member 2 (KCNJ2), mRNA.
ACCESSION   NM_000891
VERSION     NM_000891.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5391)
  AUTHORS   Rong Y, Zhou X, Guo Z, Zhang Y, Qin W, Li L, Si J, Yang R, Li X and
            Ma K.
  TITLE     Activation of Kir2.1 improves myocardial fibrosis by inhibiting Ca
            2+ overload and the TGF-beta1/Smad signaling pathway
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 55 (5), 749-757 (2023)
   PUBMED   37184279
  REMARK    GeneRIF: Activation of Kir2.1 improves myocardial fibrosis by
            inhibiting Ca [2+] overload and the TGF-beta1/Smad signaling
            pathway.
REFERENCE   2  (bases 1 to 5391)
  AUTHORS   Zhou J, Cui B, Wang X, Wang H, Zheng J, Guo F, Sun Y, Fan H, Shen J,
            Su J, Wang J, Zhao H, Tang Y, Gong T, Sun N and Liang P.
  TITLE     Overexpression of KCNJ2 enhances maturation of human-induced
            pluripotent stem cell-derived cardiomyocytes
  JOURNAL   Stem Cell Res Ther 14 (1), 92 (2023)
   PUBMED   37061738
  REMARK    GeneRIF: Overexpression of KCNJ2 enhances maturation of
            human-induced pluripotent stem cell-derived cardiomyocytes.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5391)
  AUTHORS   Fernandes CAH, Zuniga D, Fagnen C, Kugler V, Scala R, Pehau-Arnaudet
            G, Wagner R, Perahia D, Bendahhou S and Venien-Bryan C.
  TITLE     Cryo-electron microscopy unveils unique structural features of the
            human Kir2.1 channel
  JOURNAL   Sci Adv 8 (38), eabq8489 (2022)
   PUBMED   36149965
  REMARK    GeneRIF: Cryo-electron microscopy unveils unique structural features
            of the human Kir2.1 channel.
REFERENCE   4  (bases 1 to 5391)
  AUTHORS   Yu W, Wang Z, Yu X, Zhao Y, Xie Z, Zhang K, Chi Z, Chen S, Xu T,
            Jiang D, Guo X, Li M, Zhang J, Fang H, Yang D, Guo Y, Yang X, Zhang
            X, Wu Y, Yang W and Wang D.
  TITLE     Kir2.1-mediated membrane potential promotes nutrient acquisition and
            inflammation through regulation of nutrient transporters
  JOURNAL   Nat Commun 13 (1), 3544 (2022)
   PUBMED   35729093
  REMARK    GeneRIF: Kir2.1-mediated membrane potential promotes nutrient
            acquisition and inflammation through regulation of nutrient
            transporters. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5391)
  AUTHORS   Wood LS, Tsai TD, Lee KS and Vogeli G.
  TITLE     Cloning and functional expression of a human gene, hIRK1, encoding
            the heart inward rectifier K+-channel
  JOURNAL   Gene 163 (2), 313-317 (1995)
   PUBMED   7590287
REFERENCE   6  (bases 1 to 5391)
  AUTHORS   Ashen MD, O'Rourke B, Kluge KA, Johns DC and Tomaselli GF.
  TITLE     Inward rectifier K+ channel from human heart and brain: cloning and
            stable expression in a human cell line
  JOURNAL   Am J Physiol 268 (1 Pt 2), H506-H511 (1995)
   PUBMED   7840300
REFERENCE   7  (bases 1 to 5391)
  AUTHORS   Raab-Graham KF, Radeke CM and Vandenberg CA.
  TITLE     Molecular cloning and expression of a human heart inward rectifier
            potassium channel
  JOURNAL   Neuroreport 5 (18), 2501-2505 (1994)
   PUBMED   7696590
REFERENCE   8  (bases 1 to 5391)
  AUTHORS   Napolitano,C., Mazzanti,A., Bloise,R. and Priori,S.G.
  TITLE     Catecholaminergic Polymorphic Ventricular Tachycardia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301466
REFERENCE   9  (bases 1 to 5391)
  AUTHORS   Veerapandiyan,A., Statland,J.M. and Tawil,R.
  TITLE     Andersen-Tawil Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301441
REFERENCE   10  (bases 1 to 5391)
  AUTHORS   Alders,M., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301308
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF153820.1, SRR11853566.12329.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000243457.4/ ENSP00000243457.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005242.1 and AF153820.1.
            On Aug 31, 2019 this sequence version replaced NM_000891.2.
            Summary: Potassium channels are present in most mammalian cells,
            where they participate in a wide range of physiologic responses.
            The protein encoded by this gene is an integral membrane protein
            and inward-rectifier type potassium channel. The encoded protein,
            which has a greater tendency to allow potassium to flow into a cell
            rather than out of a cell, probably participates in establishing
            action potential waveform and excitability of neuronal and muscle
            tissues. Mutations in this gene have been associated with Andersen
            syndrome, which is characterized by periodic paralysis, cardiac
            arrhythmias, and dysmorphic features. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5391
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.3"
     gene            1..5391
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /note="potassium inwardly rectifying channel subfamily J
                     member 2"
                     /db_xref="GeneID:3759"
                     /db_xref="HGNC:HGNC:6263"
                     /db_xref="MIM:600681"
     misc_feature    222..224
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /note="upstream in-frame stop codon"
     CDS             387..1670
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /note="inward rectifier K+ channel KIR2.1; cardiac inward
                     rectifier potassium channel; potassium voltage-gated
                     channel subfamily J member 2; IRK-1; hIRK1; potassium
                     channel, inwardly rectifying subfamily J, member 2"
                     /codon_start=1
                     /product="inward rectifier potassium channel 2"
                     /protein_id="NP_000882.1"
                     /db_xref="CCDS:CCDS11688.1"
                     /db_xref="GeneID:3759"
                     /db_xref="HGNC:HGNC:6263"
                     /db_xref="MIM:600681"
                     /translation="MGSVRTNRYSIVSSEEDGMKLATMAVANGFGNGKSKVHTRQQCRS
                     RFVKKDGHCNVQFINVGEKGQRYLADIFTTCVDIRWRWMLVIFCLAFVLSWLFFGCVFW
                     LIALLHGDLDASKEGKACVSEVNSFTAAFLFSIETQTTIGYGFRCVTDECPIAVFMVVF
                     QSIVGCIIDAFIIGAVMAKMAKPKKRNETLVFSHNAVIAMRDGKLCLMWRVGNLRKSHL
                     VEAHVRAQLLKSRITSEGEYIPLDQIDINVGFDSGIDRIFLVSPITIVHEIDEDSPLYD
                     LSKQDIDNADFEIVVILEGMVEATAMTTQCRSSYLANEILWGHRYEPVLFEEKHYYKVD
                     YSRFHKTYEVPNTPLCSARDLAEKKYILSNANSFCYENEVALTSKEEDDSENGVPESTS
                     TDTPPDIDLHNQASVPLEPRPLRRESEI"
     misc_feature    630..704
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /note="propagated from UniProtKB/Swiss-Prot (P63252.1);
                     transmembrane region"
     misc_feature    810..827
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /note="propagated from UniProtKB/Swiss-Prot (P63252.1);
                     Region: Selectivity filter. /evidence=ECO:0000250"
     misc_feature    855..920
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /note="propagated from UniProtKB/Swiss-Prot (P63252.1);
                     transmembrane region"
     misc_feature    900..902
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /note="Role in the control of polyamine-mediated channel
                     gating and in the blocking by intracellular magnesium.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P63252.1); other site"
     misc_feature    1536..1667
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /note="propagated from UniProtKB/Swiss-Prot (P63252.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1659..1667
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /note="propagated from UniProtKB/Swiss-Prot (P63252.1);
                     Region: PDZ-binding. /evidence=ECO:0000255"
     regulatory      5368..5373
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /note="hexamer: AATAAA"
     polyA_site      5391
                     /gene="KCNJ2"
                     /gene_synonym="ATFB9; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7;
                     SQT3"
                     /note="major polyA site"
ORIGIN
        1 agagcgcact ggagccctgg ccagcgcgca gccttcccgg cgccggcggg ctgggtcttg
       61 ggaattctgg tttgctttgg ctcactcgct ttttacaaac cactggatct tacatgcctc
      121 tgtacccccc acttccactc catgtcccca tgctcctgcg ccagcaacag gacatgttct
      181 ctggatgtca gctgagtcat taaagtaact ctgcatgtca gtagacagac cttggtagaa
      241 ccacaaggct cccagagaca cccatctctc ctcatttttt tggtgtgtgt gtcttcaccg
      301 aacattcaaa actgtttctc caaagcgttt tgcaaaaact cagactgttt tccaaagcag
      361 aagcactgga gtccccagca gaagcgatgg gcagtgtgcg aaccaaccgc tacagcatcg
      421 tctcttcaga agaagacggt atgaagttgg ccaccatggc agttgcaaat ggctttggga
      481 acgggaagag taaagtccac acccgacaac agtgcaggag ccgctttgtg aagaaagatg
      541 gccactgtaa tgttcagttc atcaatgtgg gtgagaaggg gcaacggtac ctcgcagaca
      601 tcttcaccac gtgtgtggac attcgctggc ggtggatgct ggttatcttc tgcctggctt
      661 tcgtcctgtc atggctgttt tttggctgtg tgttttggtt gatagctctg ctccatgggg
      721 acctggatgc atccaaagag ggcaaagctt gtgtgtccga ggtcaacagc ttcacggctg
      781 ccttcctctt ctccattgag acccagacaa ccataggcta tggtttcaga tgtgtcacgg
      841 atgaatgccc aattgctgtt ttcatggtgg tgttccagtc aatcgtgggc tgcatcatcg
      901 atgctttcat cattggcgca gtcatggcca agatggcaaa gccaaagaag agaaacgaga
      961 ctcttgtctt cagtcacaat gccgtgattg ccatgagaga cggcaagctg tgtttgatgt
     1021 ggcgagtggg caatcttcgg aaaagccact tggtggaagc tcatgttcga gcacagctcc
     1081 tcaaatccag aattacttct gaaggggagt atatccctct ggatcaaata gacatcaatg
     1141 ttgggtttga cagtggaatc gatcgtatat ttctggtgtc cccaatcact atagtccatg
     1201 aaatagatga agacagtcct ttatatgatt tgagtaaaca ggacattgac aacgcagact
     1261 ttgaaatcgt ggtcatactg gaaggcatgg tggaagccac tgccatgacg acacagtgcc
     1321 gtagctctta tctagcaaat gaaatcctgt ggggccaccg ctatgagcct gtgctctttg
     1381 aagagaagca ctactacaaa gtggactatt ccaggttcca caaaacttac gaagtcccca
     1441 acactcccct ttgtagtgcc agagacttag cagaaaagaa atatatcctc tcaaatgcaa
     1501 attcattttg ctatgaaaat gaagttgccc tcacaagcaa agaggaagac gacagtgaaa
     1561 atggagttcc agaaagcact agtacggaca cgccccctga catagacctt cacaaccagg
     1621 caagtgtacc tctagagccc aggcccttac ggcgagagtc ggagatatga ctgactgatt
     1681 ccttctctgg aatagttact ttacaacacg gtctgttggt cagaggccca aaacagttat
     1741 acagatgacg gtactggtca agatgggtca agcaagcggc cacaagggac tgaggcaagc
     1801 acaatggttt caaagaaaga ctgtaagctc catgattagc ataaagcact aaccatgtct
     1861 ccatgtgacc cgatggcaca tagatgttgt agaataagtt atgggttttt atgttttgtt
     1921 ttgtgttttt ccaaaacttg aacttgcagg caagccttgg ttgggtattt gatttatcca
     1981 gaatgcttct ctttagggaa caaggatgtt tttaatggca taacaaaggc aagactctgc
     2041 cttaattttt gaaaagctgc taactacatg aacacaaatg tgtatttttg ttgcagtgta
     2101 gttttccttt tgtgtaattt taaagtcagt gttgaatttt attgaaagct catgatgcgc
     2161 ttcaaagtgg caagtatttg gctattaact gccaaaacaa gagcctgatt ttttgaggcc
     2221 agtaattcgt ttgctagaat tgattttttt tctctctctc tttgttacat aagggcatta
     2281 tgtaacacta gccgaatggt agcctctggg ttgttgtttt tttcttttcc tccatgatgt
     2341 taatgggtta tctcaaattt taagttaaac tacctaaaat aaataccaaa gataatgcat
     2401 atttttgcac agtggagctt acacttaaaa gaaaacaaag ccccatgggc tgccttgaaa
     2461 tcaagagaca ataactttga acctcagcaa gaccttgaac cgccggttca ttttgcacct
     2521 tattcagaaa atagagcatc atactcaccg agtctagtca gtgtagtgct tttaaaaatt
     2581 ttgtcctttc atgtaacttt tttattttaa gaggaagaag aagaaagggg cacacacaca
     2641 caataccgac gtctatcctt tcctgctagg cagtgctggc caggctcatg tgtagtgtgc
     2701 gagatggtga tgtactctta tatttttctg ggcttttcct tttgcacatt ccaaaattca
     2761 tttcataaga caagatcttc ataggacctc cttggcatcc tggcattctc aaaactgagc
     2821 catccagcat gaaagataaa tgggtttaaa cccttgctgc tgaatttatt gcctggactg
     2881 tcaggacatc accagcccac cttcacctta gggaagatgc cacacctggc ctccacactt
     2941 gctcttctga tcagtctgtc tggattgagt cctacagtgt cagatagggc ggcaaatgcc
     3001 aaagcaggga aacagggagg tgtggacaag ccagtttgat gcagcacttc agatcaagtg
     3061 cttaggaagg agaggaaact tgcctttttt atggcagagg atagtaatga aaatgtctca
     3121 gtattttagg gtcaatgaga gccataaaaa tataacataa tcacaagtaa aggagataat
     3181 ggtctaaaac agctatttcc cttttctgtg tgcatactta tgactgaatg tgagctaagc
     3241 attttctcct gtggagccct agagcaggtt actaaggaag gacacattgt tttccagaag
     3301 cctcccctgc ctggctgact gccttgctag aaacataatt ttttttttct cactgaagct
     3361 caataatgga actctttttt tttttttttt taatttaaag ttccctattt gtgaattctg
     3421 ggattactga cttttctttt taattggagt ctcaaaatca actctcttat ggtattatat
     3481 ctctgtatgc cattaaaaaa cagcttgttc tagaatcatg tattttgtaa actgatgttt
     3541 gtgatggtct ctggttcttg aacagccata tctgaatgcc gtgcctgcaa aactatgaca
     3601 atttttgctg ttttcagcct tcagatttga tggcttggga aactgaggtg ttattttcaa
     3661 tgaaacaaag aaagagatgt taagcaagtg gttgttttag atccaaatgt aaaggcaggt
     3721 ttgggaaggt gtttaaagag ttggaggaat tggggattga gttgtaaaga aaacttacag
     3781 aagaggcaac aatttggttc ttgacagtga gaggatattg agggcttcag ctgctgctat
     3841 tatgatgttt tgcaaaggaa aataatcaaa ccaaagagta ttcagtgata tgtaaattaa
     3901 atgaagatac agtggagaat gggggtgacc acaaaagagg ctccccctaa acacacagtg
     3961 ctgccactta aaaagacttg agaaatttga aagggggtgg gtatgggggg ggcaagaaag
     4021 agggagggaa atctttcaac ttatttctga aaaagagaaa aaaatataaa atttctggtg
     4081 cacaggtttg ttttttcaag aaaattttgc agaagctatg tttttaaagt gtacatttta
     4141 taaagtttat cagatatttt catatttaaa gccaaatgta aatagaggtc tgtaaagaaa
     4201 aataattgcc atagaaagta taatttcagt gcagtaattt ctgagagcta gtacctatat
     4261 gctaccggtt agcatggttt tagcaaatat ataccagcct tataaggttc gtattgctat
     4321 gttcttctgt tatttatttc agcatggact gttcatttga aacctttttc tagttattag
     4381 cgttttaaca gttacaagct ttaaatggca attttttttt tttttttttt tttttttttt
     4441 tttttgtcaa gagccaagac acaggtaatg cacgacattg attgctgcat tttaccttca
     4501 aaatatttgt ccttattgac tgggtctcct taattaatgt acacatgtca ttagaatgca
     4561 gacggagggg actcaccatg aatatctggg gttgattccc agatgtgtgt tgcttctcta
     4621 ttgcaagcag attccctgtt ggatttactt cggatttatt cccttttaaa gaatttttgc
     4681 ccatatctgg aagggcacta tatttttggg aggagccata gattcctggt tatcctattt
     4741 ttaaacaaaa tgtagacaaa gtgaactcta ttttgattat tgagaaagga gtagttttct
     4801 atccctctaa gagtatactt gaatcagaca ttttaaggat gtcactatgg cactgttgtc
     4861 atttccaaat tcctagaaaa gtttgtttta ctttgttttt attctgttaa tgcattcttt
     4921 cttctcttta cttcctttct taccagtaca ctcctatctc aactctgttt atttgatgag
     4981 ttctgtcccg taaatcatat ttcccttaca attaataaat gtcacttcat attttataat
     5041 aaaccactca gtaaaagcaa aagcttgtcc tgagaagtag agtgagttct ttttcactct
     5101 gtgtctaata atgttaaggt gggaaaaaaa aaagtgtggc atagctacct gcccatcccc
     5161 aaccctcagc aaagtagaat ctcttttctg gtaattttgg gtttccgctc tgggctctgg
     5221 caagttgaac aatcctagcc attgacaatc gtgatagtta ttattttccc atttgctgtc
     5281 tttttgtatc taaagtcttc ctattgtact gcacaaacca tggattgtac atatttttat
     5341 atattatgtc ttattttatt atttctaaat aaaaaaatta aaaattgaaa a
//
LOCUS       NM_000892               2258 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens kallikrein B1 (KLKB1), transcript variant 1, mRNA.
ACCESSION   NM_000892
VERSION     NM_000892.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2258)
  AUTHORS   Schachtl-Riess JF, Schonherr S, Lamina C, Forer L, Coassin S,
            Streiter G, Kheirkhah A, Li Y, Meiselbach H, Di Maio S, Eckardt KU,
            Kottgen A and Kronenberg F.
  CONSRTM   GCKD investigators
  TITLE     KLKB1 and CLSTN2 are associated with HDL-mediated cholesterol efflux
            capacity in a genome-wide association study
  JOURNAL   Atherosclerosis 368, 1-11 (2023)
   PUBMED   36812656
  REMARK    GeneRIF: KLKB1 and CLSTN2 are associated with HDL-mediated
            cholesterol efflux capacity in a genome-wide association study.
REFERENCE   2  (bases 1 to 2258)
  AUTHORS   Feng L, Liu Y, Chen M and Hu Y.
  TITLE     [Matrix metalloproteinase 14 and plasma kallikrein 1 may be
            potential biomarkers in the diagnosis and treatment of sepsis: a
            proteomics and bioinformatics analysis]
  JOURNAL   Zhonghua Wei Zhong Bing Ji Jiu Yi Xue 34 (7), 676-681 (2022)
   PUBMED   36100402
  REMARK    GeneRIF: [Matrix metalloproteinase 14 and plasma kallikrein 1 may be
            potential biomarkers in the diagnosis and treatment of sepsis: a
            proteomics and bioinformatics analysis].
REFERENCE   3  (bases 1 to 2258)
  AUTHORS   Wan J, Vadaq N, Konings J, Jaeger M, Kumar V, de Laat B, Joosten L,
            Netea MG, van der Ven AJ, de Groot PG, de Mast Q and Roest M.
  TITLE     Kallikrein augments the anticoagulant function of the protein C
            system in thrombin generation
  JOURNAL   J Thromb Haemost 20 (1), 48-57 (2022)
   PUBMED   34532976
  REMARK    GeneRIF: Kallikrein augments the anticoagulant function of the
            protein C system in thrombin generation.
REFERENCE   4  (bases 1 to 2258)
  AUTHORS   Adenaeuer A, Ezigbo ED, Fawzy Nazir H, Barco S, Trinchero A,
            Laubert-Reh D, Strauch K, Wild PS, Lackner KJ, Lammle B and Rossmann
            H.
  TITLE     c.451dupT in KLKB1 is common in Nigerians, confirming a higher
            prevalence of severe prekallikrein deficiency in Africans compared
            to Europeans
  JOURNAL   J Thromb Haemost 19 (1), 147-152 (2021)
   PUBMED   33073460
  REMARK    GeneRIF: c.451dupT in KLKB1 is common in Nigerians, confirming a
            higher prevalence of severe prekallikrein deficiency in Africans
            compared to Europeans.
REFERENCE   5  (bases 1 to 2258)
  AUTHORS   Henderson LM, Figueroa CD, Muller-Esterl W, Stain A and Bhoola KD.
  TITLE     Immunovisualisation of plasma prekallikrein and H-kininogen on human
            neutrophils and in human hepatocytes
  JOURNAL   Agents Actions Suppl 38 (Pt 1), 590-594 (1992)
   PUBMED   1466300
REFERENCE   6  (bases 1 to 2258)
  AUTHORS   Beaubien G, Rosinski-Chupin I, Mattei MG, Mbikay M, Chretien M and
            Seidah NG.
  TITLE     Gene structure and chromosomal localization of plasma kallikrein
  JOURNAL   Biochemistry 30 (6), 1628-1635 (1991)
   PUBMED   1993180
REFERENCE   7  (bases 1 to 2258)
  AUTHORS   Chung,D.W., Fujikawa,K., McMullen,B.A. and Davie,E.W.
  TITLE     Human plasma prekallikrein, a zymogen to a serine protease that
            contains four tandem repeats
  JOURNAL   Biochemistry 25 (9), 2410-2417 (1986)
   PUBMED   3521732
REFERENCE   8  (bases 1 to 2258)
  AUTHORS   Thompson,R.E., Mandle,R. Jr. and Kaplan,A.P.
  TITLE     Studies of binding of prekallikrein and Factor XI to high molecular
            weight kininogen and its light chain
  JOURNAL   Proc Natl Acad Sci U S A 76 (10), 4862-4866 (1979)
   PUBMED   291905
REFERENCE   9  (bases 1 to 2258)
  AUTHORS   Mandle,R.J. Jr. and Kaplan,A.P.
  TITLE     Hageman-factor-dependent fibrinolysis: generation of fibrinolytic
            activity by the interaction of human activated factor XI and
            plasminogen
  JOURNAL   Blood 54 (4), 850-862 (1979)
   PUBMED   89876
REFERENCE   10  (bases 1 to 2258)
  AUTHORS   Aznar,J.A., Espana,F., Aznar,J., Tascon,A. and Jimenez,C.
  TITLE     Fletcher factor deficiency: report of a new family
  JOURNAL   Scand J Haematol 21 (2), 94-98 (1978)
   PUBMED   694428
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK292624.1, SRR5189664.88222.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000264690.11/ ENSP00000264690.6
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292624.1, M13143.2,
            CN265612.1 and AW182528.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000892.4.
            Summary: This gene encodes a glycoprotein that participates in the
            surface-dependent activation of blood coagulation, fibrinolysis,
            kinin generation and inflammation. The encoded preproprotein
            present in plasma as a non-covalent complex with high molecular
            weight kininogen undergoes proteolytic processing mediated by
            activated coagulation factor XII to generate a disulfide-linked,
            heterodimeric serine protease comprised of heavy and light chains.
            Certain mutations in this gene cause prekallikrein deficiency.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Jan 2016].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2258
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.2"
     gene            1..2258
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /note="kallikrein B1"
                     /db_xref="GeneID:3818"
                     /db_xref="HGNC:HGNC:6371"
                     /db_xref="MIM:229000"
     misc_feature    38..40
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /note="upstream in-frame stop codon"
     CDS             83..1999
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /EC_number="3.4.21.34"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; kallikrein B, plasma (Fletcher factor) 1;
                     kininogenin; plasma prekallikrein; plasma kallikrein"
                     /codon_start=1
                     /product="plasma kallikrein isoform 1 preproprotein"
                     /protein_id="NP_000883.2"
                     /db_xref="CCDS:CCDS34120.1"
                     /db_xref="GeneID:3818"
                     /db_xref="HGNC:HGNC:6371"
                     /db_xref="MIM:229000"
                     /translation="MILFKQATYFISLFATVSCGCLTQLYENAFFRGGDVASMYTPNAQ
                     YCQMRCTFHPRCLLFSFLPASSINDMEKRFGCFLKDSVTGTLPKVHRTGAVSGHSLKQC
                     GHQISACHRDIYKGVDMRGVNFNVSKVSSVEECQKRCTSNIRCQFFSYATQTFHKAEYR
                     NNCLLKYSPGGTPTAIKVLSNVESGFSLKPCALSEIGCHMNIFQHLAFSDVDVARVLTP
                     DAFVCRTICTYHPNCLFFTFYTNVWKIESQRNVCLLKTSESGTPSSSTPQENTISGYSL
                     LTCKRTLPEPCHSKIYPGVDFGGEELNVTFVKGVNVCQETCTKMIRCQFFTYSLLPEDC
                     KEEKCKCFLRLSMDGSPTRIAYGTQGSSGYSLRLCNTGDNSVCTTKTSTRIVGGTNSSW
                     GEWPWQVSLQVKLTAQRHLCGGSLIGHQWVLTAAHCFDGLPLQDVWRIYSGILNLSDIT
                     KDTPFSQIKEIIIHQNYKVSEGNHDIALIKLQAPLNYTEFQKPICLPSKGDTSTIYTNC
                     WVTGWGFSKEKGEIQNILQKVNIPLVTNEECQKRYQDYKITQRMVCAGYKEGGKDACKG
                     DSGGPLVCKHNGMWRLVGITSWGEGCARREQPGVYTKVAEYMDWILEKTQSSDGKAQMQ
                     SPA"
     sig_peptide     83..139
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     140..1252
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /product="Plasma kallikrein heavy chain.
                     /id=PRO_0000028021"
                     /note="propagated from UniProtKB/Swiss-Prot (P03952.1)"
     misc_feature    461..463
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:3521732; propagated from
                     UniProtKB/Swiss-Prot (P03952.1); glycosylation site"
     misc_feature    1004..1006
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:3521732;
                     propagated from UniProtKB/Swiss-Prot (P03952.1);
                     glycosylation site"
     mat_peptide     1253..1996
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /product="Plasma kallikrein light chain.
                     /id=PRO_0000028022"
                     /note="propagated from UniProtKB/Swiss-Prot (P03952.1)"
     misc_feature    1268..1270
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:3521732;
                     propagated from UniProtKB/Swiss-Prot (P03952.1);
                     glycosylation site"
     misc_feature    1439..1441
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:3521732; propagated from
                     UniProtKB/Swiss-Prot (P03952.1); glycosylation site"
     misc_feature    1562..1564
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:3521732;
                     propagated from UniProtKB/Swiss-Prot (P03952.1);
                     glycosylation site"
     regulatory      2239..2244
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /note="hexamer: AATAAA"
     polyA_site      2258
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /note="major polyA site"
ORIGIN
        1 agtgccacat tagaacagct tgaagaccgt tcatttttaa gtgacaagag actcacctcc
       61 aagaagcaat tgtgttttca gaatgatttt attcaagcaa gcaacttatt tcatttcctt
      121 gtttgctaca gtttcctgtg gatgtctgac tcaactctat gaaaacgcct tcttcagagg
      181 tggggatgta gcttccatgt acaccccaaa tgcccaatac tgccagatga ggtgcacatt
      241 ccacccaagg tgtttgctat tcagttttct tccagcaagt tcaatcaatg acatggagaa
      301 aaggtttggt tgcttcttga aagatagtgt tacaggaacc ctgccaaaag tacatcgaac
      361 aggtgcagtt tctggacatt ccttgaagca atgtggtcat caaataagtg cttgccatcg
      421 agacatttat aaaggagttg atatgagagg agtcaatttt aatgtgtcta aggttagcag
      481 tgttgaagaa tgccaaaaaa ggtgcaccag taacattcgc tgccagtttt tttcatatgc
      541 cacgcaaaca tttcacaagg cagagtaccg gaacaattgc ctattaaagt acagtcccgg
      601 aggaacacct accgctataa aggtgctgag taacgtggaa tctggattct cactgaagcc
      661 ctgtgccctt tcagaaattg gttgccacat gaacatcttc cagcatcttg cgttctcaga
      721 tgtggatgtt gccagggttc tcactccaga tgcttttgtg tgtcggacca tctgcaccta
      781 tcaccccaac tgcctcttct ttacattcta tacaaatgta tggaaaatcg agtcacaaag
      841 aaatgtttgt cttcttaaaa catctgaaag tggcacacca agttcctcta ctcctcaaga
      901 aaacaccata tctggatata gccttttaac ctgcaaaaga actttacctg aaccctgcca
      961 ttctaaaatt tacccgggag ttgactttgg aggagaagaa ttgaatgtga cttttgttaa
     1021 aggagtgaat gtttgccaag agacttgcac aaagatgatt cgctgtcagt ttttcactta
     1081 ttctttactc ccagaagact gtaaggaaga gaagtgtaag tgtttcttaa gattatctat
     1141 ggatggttct ccaactagga ttgcgtatgg gacacaaggg agctctggtt actctttgag
     1201 attgtgtaac actggggaca actctgtctg cacaacaaaa acaagcacac gcattgttgg
     1261 aggaacaaac tcttcttggg gagagtggcc ctggcaggtg agcctgcagg tgaagctgac
     1321 agctcagagg cacctgtgtg gagggtcact cataggacac cagtgggtcc tcactgctgc
     1381 ccactgcttt gatgggcttc ccctgcagga tgtttggcgc atctatagtg gcattttaaa
     1441 tctgtcagac attacaaaag atacaccttt ctcacaaata aaagagatta ttattcacca
     1501 aaactataaa gtctcagaag ggaatcatga tatcgccttg ataaaactcc aggctccttt
     1561 gaattacact gaattccaaa aaccaatatg cctaccttcc aaaggtgaca caagcacaat
     1621 ttataccaac tgttgggtaa ccggatgggg cttctcgaag gagaaaggtg aaatccaaaa
     1681 tattctacaa aaggtaaata ttcctttggt aacaaatgaa gaatgccaga aaagatatca
     1741 agattataaa ataacccaac ggatggtctg tgctggctat aaagaagggg gaaaagatgc
     1801 ttgtaaggga gattcaggtg gtcccttagt ttgcaaacac aatggaatgt ggcgtttggt
     1861 gggcatcacc agctggggtg aaggctgtgc ccgcagggag caacctggtg tctacaccaa
     1921 agtcgctgag tacatggact ggattttaga gaaaacacag agcagtgatg gaaaagctca
     1981 gatgcagtca ccagcatgag aagcagtcca gagtctaggc aatttttaca acctgagttc
     2041 aagtcaaatt ctgagcctgg ggggtcctca tctgcaaagc atggagagtg gcatcttctt
     2101 tgcatcctaa ggacgaaaaa cacagtgcac tcagagctgc tgaggacaat gtctggctga
     2161 agcccgcttt cagcacgccg taaccagggg ctgacaatgc gaggtcgcaa ctgagatctc
     2221 catgactgtg tgttgtgaaa taaaatggtg aaagatca
//
LOCUS       NM_000894                524 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens luteinizing hormone subunit beta (LHB), mRNA.
ACCESSION   NM_000894
VERSION     NM_000894.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 524)
  AUTHORS   Khamis H, Rudnizky S, Melamed P and Kaplan A.
  TITLE     Single molecule characterization of the binding kinetics of a
            transcription factor and its modulation by DNA sequence and
            methylation
  JOURNAL   Nucleic Acids Res 49 (19), 10975-10987 (2021)
   PUBMED   34606618
  REMARK    GeneRIF: Single molecule characterization of the binding kinetics of
            a transcription factor and its modulation by DNA sequence and
            methylation.
REFERENCE   2  (bases 1 to 524)
  AUTHORS   Pnueli L, Shalev D, Refael T, David C, Boehm U and Melamed P.
  TITLE     Proliferating primary pituitary cells as a model for studying
            regulation of gonadotrope chromatin and gene expression
  JOURNAL   Mol Cell Endocrinol 533, 111349 (2021)
   PUBMED   34090968
  REMARK    GeneRIF: Proliferating primary pituitary cells as a model for
            studying regulation of gonadotrope chromatin and gene expression.
REFERENCE   3  (bases 1 to 524)
  AUTHORS   Zhou Y, Shen L, Dong B, Liu C, Lv W, Chi J, Che K, Gao Y, Wang Y and
            Wang Y.
  TITLE     Elevated circulating luteinizing hormone levels are associated with
            diabetic macroalbuminuria in Chinese men and postmenopausal women: A
            cross-sectional study
  JOURNAL   J Diabetes 12 (11), 819-833 (2020)
   PUBMED   32475064
  REMARK    GeneRIF: Elevated circulating luteinizing hormone levels are
            associated with diabetic macroalbuminuria in Chinese men and
            postmenopausal women: A cross-sectional study.
REFERENCE   4  (bases 1 to 524)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 524)
  AUTHORS   Keutmann HT, Hua QX and Weiss MA.
  TITLE     Structure of a receptor-binding fragment from human luteinizing
            hormone beta-subunit determined by [1H]- and [15N]nuclear magnetic
            resonance spectroscopy
  JOURNAL   Mol Endocrinol 6 (6), 904-913 (1992)
   PUBMED   1495492
REFERENCE   6  (bases 1 to 524)
  AUTHORS   Weiss J, Axelrod L, Whitcomb RW, Harris PE, Crowley WF and Jameson
            JL.
  TITLE     Hypogonadism caused by a single amino acid substitution in the beta
            subunit of luteinizing hormone
  JOURNAL   N Engl J Med 326 (3), 179-183 (1992)
   PUBMED   1727547
REFERENCE   7  (bases 1 to 524)
  AUTHORS   Weisshaar G, Hiyama J, Renwick AG and Nimtz M.
  TITLE     NMR investigations of the N-linked oligosaccharides at individual
            glycosylation sites of human lutropin
  JOURNAL   Eur J Biochem 195 (1), 257-268 (1991)
   PUBMED   1991473
REFERENCE   8  (bases 1 to 524)
  AUTHORS   Keutmann,H.T., Charlesworth,M.C., Mason,K.A., Ostrea,T., Johnson,L.
            and Ryan,R.J.
  TITLE     A receptor-binding region in human choriogonadotropin/lutropin beta
            subunit
  JOURNAL   Proc Natl Acad Sci U S A 84 (7), 2038-2042 (1987)
   PUBMED   3470775
REFERENCE   9  (bases 1 to 524)
  AUTHORS   Jameson,J.L., Lindell,C.M. and Habener,J.F.
  TITLE     Evolution of different transcriptional start sites in the human
            luteinizing hormone and chorionic gonadotropin beta-subunit genes
  JOURNAL   DNA 5 (3), 227-234 (1986)
   PUBMED   2424697
REFERENCE   10  (bases 1 to 524)
  AUTHORS   Sairam,M.R. and Li,C.H.
  TITLE     Human pituitary lutropin. Isolation, properties, and the complete
            amino acid sequence of the beta-subunit
  JOURNAL   Biochim Biophys Acta 412 (1), 70-81 (1975)
   PUBMED   1191677
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CD107666.1, SRR18074968.1076963.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000649238.3/ ENSP00000497294.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008687.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 15, 2019 this sequence version replaced NM_000894.2.
            Summary: This gene is a member of the glycoprotein hormone beta
            chain family and encodes the beta subunit of luteinizing hormone
            (LH). Glycoprotein hormones are heterodimers consisting of a common
            alpha subunit and an unique beta subunit which confers biological
            specificity. LH is expressed in the pituitary gland and promotes
            spermatogenesis and ovulation by stimulating the testes and ovaries
            to synthesize steroids. The genes for the beta chains of chorionic
            gonadotropin and for luteinizing hormone are contiguous on
            chromosome 19q13.3. Mutations in this gene are associated with
            hypogonadism which is characterized by infertility and
            pseudohermaphroditism. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..524
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..524
                     /gene="LHB"
                     /gene_synonym="CGB4; HH23; LSH-B; LSH-beta"
                     /note="luteinizing hormone subunit beta"
                     /db_xref="GeneID:3972"
                     /db_xref="HGNC:HGNC:6584"
                     /db_xref="MIM:152780"
     CDS             11..436
                     /gene="LHB"
                     /gene_synonym="CGB4; HH23; LSH-B; LSH-beta"
                     /note="interstitial cell stimulating hormone, beta chain;
                     lutropin subunit beta; luteinizing hormone beta subunit;
                     lutropin beta chain; luteinizing hormone beta polypeptide"
                     /codon_start=1
                     /product="lutropin subunit beta precursor"
                     /protein_id="NP_000885.1"
                     /db_xref="CCDS:CCDS12748.1"
                     /db_xref="GeneID:3972"
                     /db_xref="HGNC:HGNC:6584"
                     /db_xref="MIM:152780"
                     /translation="MEMLQGLLLLLLLSMGGAWASREPLRPWCHPINAILAVEKEGCPV
                     CITVNTTICAGYCPTMMRVLQAVLPPLPQVVCTYRDVRFESIRLPGCPRGVDPVVSFPV
                     ALSCRCGPCRRSTSDCGGPKDHPLTCDHPQLSGLLFL"
     sig_peptide     11..70
                     /gene="LHB"
                     /gene_synonym="CGB4; HH23; LSH-B; LSH-beta"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    158..160
                     /gene="LHB"
                     /gene_synonym="CGB4; HH23; LSH-B; LSH-beta"
                     /note="N-linked (GlcNAc...) asparagine. /id=CAR_000045;
                     propagated from UniProtKB/Swiss-Prot (P01229.3);
                     glycosylation site"
     regulatory      503..508
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LHB"
                     /gene_synonym="CGB4; HH23; LSH-B; LSH-beta"
                     /note="hexamer: AATAAA"
     polyA_site      524
                     /gene="LHB"
                     /gene_synonym="CGB4; HH23; LSH-B; LSH-beta"
                     /note="major polyA site"
ORIGIN
        1 tgcaccaagg atggagatgc tccaggggct gctgctgttg ctgctgctga gcatgggcgg
       61 ggcatgggca tccagggagc cgcttcggcc atggtgccac cccatcaatg ccatcctggc
      121 tgtcgagaag gagggctgcc cagtgtgcat caccgtcaac accaccatct gtgccggcta
      181 ctgccccacc atgatgcgcg tgctgcaggc ggtcctgccg cccctgcctc aggtggtgtg
      241 cacctaccgt gatgtgcgct tcgagtccat ccggctccct ggctgcccgc gtggtgtgga
      301 ccccgtggtc tccttccctg tggctctcag ctgtcgctgt ggaccctgcc gccgcagcac
      361 ctctgactgt gggggtccca aagaccaccc cttgacctgt gaccaccccc aactctcagg
      421 cctcctcttc ctctaaagac cctccccgca gccttccaag tccatcccga ctcctggagc
      481 cctgacaccc cgatcctccc acaataaagg cttctcaatc cgca
//
LOCUS       NM_000895               2140 bp    mRNA    linear   PRI 26-MAR-2023
DEFINITION  Homo sapiens leukotriene A4 hydrolase (LTA4H), transcript variant 1,
            mRNA.
ACCESSION   NM_000895
VERSION     NM_000895.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2140)
  AUTHORS   Ren T, Wang S, Zhang B, Zhou W, Wang C, Zhao X and Feng J.
  TITLE     LTA4H extensively associates with mRNAs and lncRNAs indicative of
            its novel regulatory targets
  JOURNAL   PeerJ 11, e14875 (2023)
   PUBMED   36923505
  REMARK    GeneRIF: LTA4H extensively associates with mRNAs and lncRNAs
            indicative of its novel regulatory targets. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2140)
  AUTHORS   Kumar SS, Solomon R, Gautam P, Inbaraj LR, Sivadasan A, Michael JS,
            Karthik R, Varghese GM, Christudass CS, Samuel P and Manesh A.
  TITLE     Leukotriene A4 hydrolase (LTA4H rs17525495) gene polymorphisms and
            paradoxical reactions in extrapulmonary tuberculosis
  JOURNAL   Sci Rep 13 (1), 3746 (2023)
   PUBMED   36879040
  REMARK    GeneRIF: Leukotriene A4 hydrolase (LTA4H rs17525495) gene
            polymorphisms and paradoxical reactions in extrapulmonary
            tuberculosis. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2140)
  AUTHORS   Zhao Y, Xu M, Liu M, Zhang Q and Xiong W.
  TITLE     Clinical Implications of LTA4H Genetic Polymorphism in Patients with
            Chronic Obstructive Pulmonary Disease
  JOURNAL   COPD 18 (6), 664-671 (2021)
   PUBMED   34694182
  REMARK    GeneRIF: Clinical Implications of LTA4H Genetic Polymorphism in
            Patients with Chronic Obstructive Pulmonary Disease.
REFERENCE   4  (bases 1 to 2140)
  AUTHORS   Siddiqi OK, Ghebremichael M, Musukuma K, Dang X, Mubanga E, Birbeck
            GL, Love S, Buback C, Kosloff B, Ayles H, Atadzhanov M and Koralnik
            IJ.
  TITLE     LTA4H Prevalence and Mortality in Adult Zambians with Tuberculous
            Meningitis
  JOURNAL   Ann Neurol 90 (6), 994-998 (2021)
   PUBMED   34595756
  REMARK    GeneRIF: LTA4H Prevalence and Mortality in Adult Zambians with
            Tuberculous Meningitis.
REFERENCE   5  (bases 1 to 2140)
  AUTHORS   Ma TT, Cao MD, Yu RL, Shi HY, Yan WJ, Liu JG, Pan C, Sun J, Wei QY,
            Wang DY, Wei JF, Wang XY and Yin JS.
  TITLE     Leukotriene A4 Hydrolase Is a Candidate Predictive Biomarker for
            Successful Allergen Immunotherapy
  JOURNAL   Front Immunol 11, 559746 (2020)
   PUBMED   33329520
  REMARK    GeneRIF: Leukotriene A4 Hydrolase Is a Candidate Predictive
            Biomarker for Successful Allergen Immunotherapy. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 2140)
  AUTHORS   Wetterholm A, Medina JF, Radmark O, Shapiro R, Haeggstrom JZ, Vallee
            BL and Samuelsson B.
  TITLE     Leukotriene A4 hydrolase: abrogation of the peptidase activity by
            mutation of glutamic acid-296
  JOURNAL   Proc Natl Acad Sci U S A 89 (19), 9141-9145 (1992)
   PUBMED   1357660
REFERENCE   7  (bases 1 to 2140)
  AUTHORS   Minami M, Bito H, Ohishi N, Tsuge H, Miyano M, Mori M, Wada H, Mutoh
            H, Shimada S, Izumi T et al.
  TITLE     Leukotriene A4 hydrolase, a bifunctional enzyme. Distinction of
            leukotriene A4 hydrolase and aminopeptidase activities by
            site-directed mutagenesis at Glu-297
  JOURNAL   FEBS Lett 309 (3), 353-357 (1992)
   PUBMED   1516710
REFERENCE   8  (bases 1 to 2140)
  AUTHORS   Medina JF, Wetterholm A, Radmark O, Shapiro R, Haeggstrom JZ, Vallee
            BL and Samuelsson B.
  TITLE     Leukotriene A4 hydrolase: determination of the three zinc-binding
            ligands by site-directed mutagenesis and zinc analysis
  JOURNAL   Proc Natl Acad Sci U S A 88 (17), 7620-7624 (1991)
   PUBMED   1881903
REFERENCE   9  (bases 1 to 2140)
  AUTHORS   Odlander B, Claesson HE, Bergman T, Radmark O, Jornvall H and
            Haeggstrom JZ.
  TITLE     Leukotriene A4 hydrolase in the human B-lymphocytic cell line Raji:
            indications of catalytically divergent forms of the enzyme
  JOURNAL   Arch Biochem Biophys 287 (1), 167-174 (1991)
   PUBMED   1897988
REFERENCE   10  (bases 1 to 2140)
  AUTHORS   Toh H, Minami M and Shimizu T.
  TITLE     Molecular evolution and zinc ion binding motif of leukotriene A4
            hydrolase
  JOURNAL   Biochem Biophys Res Commun 171 (1), 216-221 (1990)
   PUBMED   1975494
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HM005567.1, SRR1803616.79480.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000228740.7/ ENSP00000228740.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from J03459.1 and R41544.1.
            On Nov 23, 2018 this sequence version replaced NM_000895.2.
            Summary: The protein encoded by this gene is an enzyme that
            contains both hydrolase and aminopeptidase activities. The
            hydrolase activity is used in the final step of the biosynthesis of
            leukotriene B4, a proinflammatory mediator. The aminopeptidase
            activity has been shown to degrade proline-glycine-proline (PGP), a
            neutrophil chemoattractant and biomarker for chronic obstructive
            pulmonary disease (COPD). Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Sep 2015].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2140
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     gene            1..2140
                     /gene="LTA4H"
                     /note="leukotriene A4 hydrolase"
                     /db_xref="GeneID:4048"
                     /db_xref="HGNC:HGNC:6710"
                     /db_xref="MIM:151570"
     misc_feature    54..56
                     /gene="LTA4H"
                     /note="upstream in-frame stop codon"
     CDS             69..1904
                     /gene="LTA4H"
                     /EC_number="3.3.2.6"
                     /EC_number="3.4.11.4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     leukotriene A-4 hydrolase; LTA-4 hydrolase; testicular
                     secretory protein Li 27; tripeptide aminopeptidase LTA4H"
                     /codon_start=1
                     /product="leukotriene A-4 hydrolase isoform 1"
                     /protein_id="NP_000886.1"
                     /db_xref="CCDS:CCDS9059.1"
                     /db_xref="GeneID:4048"
                     /db_xref="HGNC:HGNC:6710"
                     /db_xref="MIM:151570"
                     /translation="MPEIVDTCSLASPASVCRTKHLHLRCSVDFTRRTLTGTAALTVQS
                     QEDNLRSLVLDTKDLTIEKVVINGQEVKYALGERQSYKGSPMEISLPIALSKNQEIVIE
                     ISFETSPKSSALQWLTPEQTSGKEHPYLFSQCQAIHCRAILPCQDTPSVKLTYTAEVSV
                     PKELVALMSAIRDGETPDPEDPSRKIYKFIQKVPIPCYLIALVVGALESRQIGPRTLVW
                     SEKEQVEKSAYEFSETESMLKIAEDLGGPYVWGQYDLLVLPPSFPYGGMENPCLTFVTP
                     TLLAGDKSLSNVIAHEISHSWTGNLVTNKTWDHFWLNEGHTVYLERHICGRLFGEKFRH
                     FNALGGWGELQNSVKTFGETHPFTKLVVDLTDIDPDVAYSSVPYEKGFALLFYLEQLLG
                     GPEIFLGFLKAYVEKFSYKSITTDDWKDFLYSYFKDKVDVLNQVDWNAWLYSPGLPPIK
                     PNYDMTLTNACIALSQRWITAKEDDLNSFNATDLKDLSSHQLNEFLAQTLQRAPLPLGH
                     IKRMQEVYNFNAINNSEIRFRWLRLCIQSKWEDAIPLALKMATEQGRMKFTRPLFKDLA
                     AFDKSHDQAVRTYQEHKASMHPVTAMLVGKDLKVD"
     misc_feature    285..287
                     /gene="LTA4H"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P09960.2); acetylation site"
     misc_feature    882..884
                     /gene="LTA4H"
                     /note="Pro-Gly-Pro binding.
                     /evidence=ECO:0000269|PubMed:24591641; propagated from
                     UniProtKB/Swiss-Prot (P09960.2); other site"
     misc_feature    1077..1079
                     /gene="LTA4H"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P09960.2); acetylation site"
     misc_feature    1194..1196
                     /gene="LTA4H"
                     /note="Essential for epoxide hydrolase activity, but not
                     for aminopeptidase activity.
                     /evidence=ECO:0000269|PubMed:11917124; propagated from
                     UniProtKB/Swiss-Prot (P09960.2); other site"
     misc_feature    1203..1205
                     /gene="LTA4H"
                     /note="Covalently modified during suicide inhibition by
                     leukotrienes. /evidence=ECO:0000269|PubMed:7667299;
                     propagated from UniProtKB/Swiss-Prot (P09960.2); other
                     site"
     misc_feature    1308..1310
                     /gene="LTA4H"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P09960.2); acetylation site"
     misc_feature    1314..1316
                     /gene="LTA4H"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:9395533;
                     propagated from UniProtKB/Swiss-Prot (P09960.2);
                     phosphorylation site"
     misc_feature    1755..1757
                     /gene="LTA4H"
                     /note="Pro-Gly-Pro binding.
                     /evidence=ECO:0000269|PubMed:24591641; propagated from
                     UniProtKB/Swiss-Prot (P09960.2); other site"
     misc_feature    1785..1787
                     /gene="LTA4H"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P09960.2); acetylation site"
     regulatory      2039..2044
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LTA4H"
                     /note="hexamer: AATAAA"
     polyA_site      2063
                     /gene="LTA4H"
                     /note="major polyA site"
     polyA_site      2090
                     /gene="LTA4H"
     regulatory      2116..2121
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LTA4H"
                     /note="hexamer: ATTAAA"
     polyA_site      2140
                     /gene="LTA4H"
ORIGIN
        1 ctctatcgac gagtctggta gctgagcgtt gggctgtagg tcgctgtgct gtgtgatccc
       61 ccagagccat gcccgagata gtggatacct gttcgttggc ctctccggct tccgtctgcc
      121 ggaccaagca cctgcacctg cgctgcagcg tcgactttac tcgccggacg ctgaccggga
      181 ctgctgctct cacggtccag tctcaggagg acaatctgcg cagcctggtt ttggatacaa
      241 aggaccttac aatagaaaaa gtagtgatca atggacaaga agtcaaatat gctcttggag
      301 aaagacaaag ttacaaggga tcgccaatgg aaatctctct tcctatcgct ttgagcaaaa
      361 atcaagaaat tgttatagaa atttcttttg agacctctcc aaaatcttct gctctccagt
      421 ggctcactcc tgaacagact tctgggaagg aacacccata tctctttagt cagtgccagg
      481 ccatccactg cagagcaatc cttccttgtc aggacactcc ttctgtgaaa ttaacctata
      541 ctgcagaggt gtctgtccct aaagaactgg tggcacttat gagtgctatt cgtgatggag
      601 aaacacctga cccagaagac ccaagcagga aaatatacaa attcatccaa aaagttccaa
      661 taccctgcta cctgattgct ttagttgttg gagctttaga aagcaggcaa attggcccaa
      721 gaactttggt gtggtctgag aaagagcagg tggaaaagtc tgcttatgag ttttctgaga
      781 ctgaatctat gcttaaaata gcagaagatc tgggaggacc gtatgtatgg ggacagtatg
      841 acctattggt cctgccacca tccttccctt atggtggcat ggagaatcct tgccttactt
      901 ttgtaactcc tactctactg gcaggcgaca agtcactctc caatgtcatt gcacatgaaa
      961 tatctcatag ctggacaggg aatctagtga ccaacaaaac ttgggatcac ttttggttaa
     1021 atgagggaca tactgtgtac ttggaacgcc acatttgcgg acgattgttt ggtgaaaagt
     1081 tcagacattt taatgctctg ggaggatggg gagaactaca gaattcggta aagacatttg
     1141 gggagacaca tcctttcacc aaacttgtgg ttgatctgac agatatagac cctgatgtag
     1201 cttattcttc agttccctat gagaagggct ttgctttact tttttacctt gaacaactgc
     1261 ttggaggacc agagattttc ctaggattct taaaagctta tgttgagaag ttttcctata
     1321 agagcataac tactgatgac tggaaggatt tcctgtattc ctattttaaa gataaggttg
     1381 atgttctcaa tcaagttgat tggaatgcct ggctctactc tcctggactg cctcccataa
     1441 agcccaatta tgatatgact ctgacaaatg cttgtattgc cttaagtcaa agatggatta
     1501 ctgccaaaga agatgattta aattcattca atgccacaga cctgaaggat ctctcttctc
     1561 atcaattgaa tgagttttta gcacagacgc tccagagggc acctcttcca ttggggcaca
     1621 taaagcgaat gcaagaggtg tacaacttca atgccattaa caattctgaa atacgattca
     1681 gatggctgcg gctctgcatt caatccaagt gggaggacgc aattcctttg gcgctaaaga
     1741 tggcaactga acaaggaaga atgaagttta cccggccctt attcaaggat cttgctgcct
     1801 ttgacaaatc ccatgatcaa gctgtccgaa cctaccaaga gcacaaagca agcatgcatc
     1861 ccgtgactgc aatgctggtg gggaaagact taaaagtgga ttaaagacct gcgtattgat
     1921 gattttagag atttctcttt tttaaatgga attcgtaaag aaatataaaa cttcagctca
     1981 caattaaaac tgtcttttta gttttggctt tttattgttt tgttggtgat tttactgaaa
     2041 taaagttgag ctacttcttc ttatagtggc atattctttg taaattttaa caaggtttaa
     2101 tcttttgatt tacaaattaa aaaattttga attagcttta
//
LOCUS       NM_000896               5053 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens cytochrome P450 family 4 subfamily F member 3 (CYP4F3),
            transcript variant 1, mRNA.
ACCESSION   NM_000896
VERSION     NM_000896.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5053)
  AUTHORS   Ananthakrishnan AN, Khalili H, Song M, Higuchi LM, Lochhead P,
            Richter JM and Chan AT.
  TITLE     Genetic Polymorphisms in Fatty Acid Metabolism Modify the
            Association Between Dietary n3: n6 Intake and Risk of Ulcerative
            Colitis: A Prospective Cohort Study
  JOURNAL   Inflamm Bowel Dis 23 (11), 1898-1904 (2017)
   PUBMED   28991856
  REMARK    GeneRIF: High n3:n6 polyunsaturated fatty acids (PUFA) intake was
            associated with a reduced risk of ulcerative colitis (UC) in
            individuals with the GG/AG genotype at a single nucleotide
            polymorphism in CYP4F3 but not those with the AA genotype. The
            association between dietary n3:n6 PUFA intake and risk of UC may be
            modified variants at CYP4F3.
REFERENCE   2  (bases 1 to 5053)
  AUTHORS   Yin J, Liu H, Liu Z, Owzar K, Han Y, Su L, Wei Y, Hung RJ, Brhane Y,
            McLaughlin J, Brennan P, Bickeboeller H, Rosenberger A, Houlston RS,
            Caporaso N, Landi MT, Heinrich J, Risch A, Christiani DC, Amos CI
            and Wei Q.
  TITLE     Pathway-analysis of published genome-wide association studies of
            lung cancer: A potential role for the CYP4F3 locus
  JOURNAL   Mol Carcinog 56 (6), 1663-1672 (2017)
   PUBMED   28150878
  REMARK    GeneRIF: The results suggest that a potentially functional
            single-nucleotide polymorphisms in CYP4F3 (rs4646904) may contribute
            to the etiology of lung cancer, especially in smokers.
REFERENCE   3  (bases 1 to 5053)
  AUTHORS   Costea I, Mack DR, Lemaitre RN, Israel D, Marcil V, Ahmad A and Amre
            DK.
  TITLE     Interactions between the dietary polyunsaturated fatty acid ratio
            and genetic factors determine susceptibility to pediatric Crohn's
            disease
  JOURNAL   Gastroenterology 146 (4), 929-931 (2014)
   PUBMED   24406470
  REMARK    GeneRIF: Children who consumed a higher dietary ratio of
            omega6/omega3 were susceptible for Crohn's disease if they were also
            carriers of specific variants of CYP4F3 and FADS2 genes.
REFERENCE   4  (bases 1 to 5053)
  AUTHORS   Corcos L, Lucas D, Le Jossic-Corcos C, Dreano Y, Simon B,
            Plee-Gautier E, Amet Y and Salaun JP.
  TITLE     Human cytochrome P450 4F3: structure, functions, and prospects
  JOURNAL   Drug Metabol Drug Interact 27 (2), 63-71 (2012)
   PUBMED   22706230
  REMARK    GeneRIF: In this short review, emphasis will be placed on the
            regulation and the functional roles of human CYP4F3--{REVIEW} Review
            article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5053)
  AUTHORS   Reina Ortiz M, Schreiber F, Benitez S, Broncano N, Chico ME, Vaca M,
            Alexander N, Lewis DJ, Dougan G and Cooper PJ.
  TITLE     Effects of chronic ascariasis and trichuriasis on cytokine
            production and gene expression in human blood: a cross-sectional
            study
  JOURNAL   PLoS Negl Trop Dis 5 (6), e1157 (2011)
   PUBMED   21666788
REFERENCE   6  (bases 1 to 5053)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 5053)
  AUTHORS   Kikuta Y, Kato M, Yamashita Y, Miyauchi Y, Tanaka K, Kamada N and
            Kusunose M.
  TITLE     Human leukotriene B4 omega-hydroxylase (CYP4F3) gene: molecular
            cloning and chromosomal localization
  JOURNAL   DNA Cell Biol 17 (3), 221-230 (1998)
   PUBMED   9539102
REFERENCE   8  (bases 1 to 5053)
  AUTHORS   Simpson AE.
  TITLE     The cytochrome P450 4 (CYP4) family
  JOURNAL   Gen Pharmacol 28 (3), 351-359 (1997)
   PUBMED   9068972
  REMARK    Review article
REFERENCE   9  (bases 1 to 5053)
  AUTHORS   Kikuta Y, Kusunose E, Kondo T, Yamamoto S, Kinoshita H and Kusunose
            M.
  TITLE     Cloning and expression of a novel form of leukotriene B4
            omega-hydroxylase from human liver
  JOURNAL   FEBS Lett 348 (1), 70-74 (1994)
   PUBMED   8026587
REFERENCE   10  (bases 1 to 5053)
  AUTHORS   Kikuta Y, Kusunose E, Endo K, Yamamoto S, Sogawa K, Fujii-Kuriyama Y
            and Kusunose M.
  TITLE     A novel form of cytochrome P-450 family 4 in human polymorphonuclear
            leukocytes. cDNA cloning and expression of leukotriene B4
            omega-hydroxylase
  JOURNAL   J Biol Chem 268 (13), 9376-9380 (1993)
   PUBMED   8486631
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB002454.1, D12620.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142586,
            SAMEA2145122 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000221307.13/ ENSP00000221307.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB002454.1, D12621.1 and
            AD000685.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000896.2.
            Summary: This gene, CYP4F3, encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This protein localizes to the endoplasmic reticulum. The enzyme
            starts the process of inactivating and degrading leukotriene B4, a
            potent mediator of inflammation. This gene is part of a cluster of
            cytochrome P450 genes on chromosome 19. Another member of this
            family, CYP4F8, is approximately 18 kb away. Several transcript
            variants encoding two different isoforms have been found for this
            gene. [provided by RefSeq, Apr 2019].
            Transcript Variant: This variant (1) encodes isoform a, which is
            the same length but has internal differences compared to isoform b.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5053
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.12"
     gene            1..5053
                     /gene="CYP4F3"
                     /gene_synonym="CPF3; CYP4F; CYPIVF3; LTB4H"
                     /note="cytochrome P450 family 4 subfamily F member 3"
                     /db_xref="GeneID:4051"
                     /db_xref="HGNC:HGNC:2646"
                     /db_xref="MIM:601270"
     CDS             51..1613
                     /gene="CYP4F3"
                     /gene_synonym="CPF3; CYP4F; CYPIVF3; LTB4H"
                     /EC_number="1.14.14.94"
                     /EC_number="1.14.14.1"
                     /EC_number="1.14.14.79"
                     /note="isoform a is encoded by transcript variant 1;
                     leukotriene-B4 20-monooxygenase; cytochrome P450-LTB-omega;
                     cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene
                     B4 omega hydroxylase); leukotriene-B(4) omega-hydroxylase
                     2; cytochrome P-450; cytochrome P450 4F3; leukotriene-B(4)
                     20-monooxygenase 2; 20-HETE synthase;
                     20-hydroxyeicosatetraenoic acid synthase; docosahexaenoic
                     acid omega-hydroxylase CYP4F3; cytochrome P450, family 4,
                     subfamily F, polypeptide 3"
                     /codon_start=1
                     /product="cytochrome P450 4F3 isoform a"
                     /protein_id="NP_000887.2"
                     /db_xref="CCDS:CCDS12332.1"
                     /db_xref="GeneID:4051"
                     /db_xref="HGNC:HGNC:2646"
                     /db_xref="MIM:601270"
                     /translation="MPQLSLSSLGLWPMAASPWLLLLLVGASWLLARILAWTYTFYDNC
                     CRLRCFPQPPKRNWFLGHLGLIHSSEEGLLYTQSLACTFGDMCCWWVGPWHAIVRIFHP
                     TYIKPVLFAPAAIVPKDKVFYSFLKPWLGDGLLLSAGEKWSRHRRMLTPAFHFNILKPY
                     MKIFNESVNIMHAKWQLLASEGSARLDMFEHISLMTLDSLQKCVFSFDSHCQEKPSEYI
                     AAILELSALVTKRHQQILLYIDFLYYLTPDGQRFRRACRLVHDFTDAVIQERRRTLPSQ
                     GVDDFLQAKAKSKTLDFIDVLLLSKDEDGKKLSDEDIRAEADTFMFEGHDTTASGLSWV
                     LYHLAKHPEYQERCRQEVQELLKDREPKEIEWDDLAQLPFLTMCIKESLRLHPPVPAVS
                     RCCTQDIVLPDGRVIPKGIICLISVFGTHHNPAVWPDPEVYDPFRFDPKNIKERSPLAF
                     IPFSAGPRNCIGQAFAMAEMKVVLGLTLLRFRVLPDHTEPRRKPELVLRAEGGLWLRVE
                     PLS"
     misc_feature    81..143
                     /gene="CYP4F3"
                     /gene_synonym="CPF3; CYP4F; CYPIVF3; LTB4H"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08477.2);
                     transmembrane region"
     misc_feature    1452..1454
                     /gene="CYP4F3"
                     /gene_synonym="CPF3; CYP4F; CYPIVF3; LTB4H"
                     /note="heme binding site"
     regulatory      1960..1965
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP4F3"
                     /gene_synonym="CPF3; CYP4F; CYPIVF3; LTB4H"
                     /note="hexamer: AATGAA"
     polyA_site      1987
                     /gene="CYP4F3"
                     /gene_synonym="CPF3; CYP4F; CYPIVF3; LTB4H"
     regulatory      5032..5037
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP4F3"
                     /gene_synonym="CPF3; CYP4F; CYPIVF3; LTB4H"
                     /note="hexamer: AATAAA"
     polyA_site      5053
                     /gene="CYP4F3"
                     /gene_synonym="CPF3; CYP4F; CYPIVF3; LTB4H"
                     /note="major polyA site"
ORIGIN
        1 agaagaaggg gagaggaggt tgtgtgggac aaggtgctcc tgacagaagg atgccacagc
       61 tgagcctgtc ctcgctgggc ctttggccaa tggcagcatc cccgtggctg ctcctgctgc
      121 tggttggggc ctcctggctc ctggcccgca tcctggcctg gacctatacc ttctatgaca
      181 actgctgccg cctccggtgt ttcccgcaac ccccgaaacg gaattggttc ttgggtcacc
      241 tgggcctgat tcacagctcg gaggaaggtc tcctatacac acaaagcctg gcatgcacct
      301 tcggtgatat gtgctgctgg tgggtggggc cctggcacgc aatcgtccgc atcttccacc
      361 ccacctacat caagcctgtg ctctttgctc cagctgccat tgtaccaaag gacaaggtct
      421 tctacagctt cctgaagccc tggctggggg atgggctcct gctgagtgct ggtgaaaagt
      481 ggagccgcca ccgtcggatg ctgacgcctg ccttccattt caacatcctg aagccctata
      541 tgaagatttt caatgagagt gtgaacatca tgcatgccaa gtggcagctc ctggcctcag
      601 agggtagtgc ccgtctggac atgtttgagc acatcagcct catgaccttg gacagtctgc
      661 agaaatgtgt cttcagcttt gacagccatt gccaggagaa gcccagtgaa tatattgccg
      721 ccatcttgga gctcagtgcc cttgtgacaa aaagacacca gcagatcctc ctgtacatag
      781 acttcctgta ttatctcacc cctgatgggc agcgtttccg cagggcctgc cgcctggtgc
      841 acgacttcac agatgccgtc atccaggagc ggcgccgcac cctccctagc cagggtgttg
      901 atgacttcct ccaagccaag gccaaatcca agactttgga cttcattgat gtactcctgc
      961 tgagcaagga tgaagatggg aagaagttgt ccgatgagga cataagagca gaagctgaca
     1021 cctttatgtt tgagggccat gacaccacag ccagtggtct ctcctgggtc ctgtaccacc
     1081 ttgcaaagca cccggaatac caggagcgct gtcggcagga ggtgcaagag cttctgaagg
     1141 accgtgagcc taaagagatt gaatgggacg acctggccca gctgcccttc ctgaccatgt
     1201 gcattaagga gagcctgagg ctgcatcccc cagtccctgc cgtctctcgc tgctgcaccc
     1261 aagacattgt gctcccagac ggccgggtca tccccaaagg cattatctgc ctcatcagtg
     1321 tttttggaac ccatcacaac ccagccgtgt ggccggaccc tgaggtctat gacccctttc
     1381 gctttgaccc aaagaacatc aaggagaggt cacctctggc ttttattccc ttctcagcag
     1441 ggcccaggaa ctgcatcggg caggcgttcg cgatggcgga gatgaaggtg gtcctggggc
     1501 tcacgctgct gcgcttccgc gtcctgcctg accacaccga gccccgcagg aagccggagc
     1561 tggtcctgcg cgcagagggc ggactttggc tgcgggtgga gcccctgagc tgagttctgc
     1621 agagacccac tctgacccca ctaaaatgac ccctgattca tcaaaagtga ggcctagaat
     1681 taccctaaga ccctgttcca cagtcctgta ttccatccta gatatctact caaaataatt
     1741 gagacaagtg ttcaaacaga aagacgcttg tgcgtgaatg ttcatggcag ccctattcac
     1801 agtagccaaa cgatgaaaac aaccccaagc tatatattac cagatgaaag gataaacaaa
     1861 atatggtcca tccatacaat ggagtattac acagccataa aaaggaatga agcagtgatc
     1921 cccactacac tgtggatgaa ccttgaatgc atgatactga atgaaagaca tcagatgcaa
     1981 aaggtcacat agtgtactgt ccttttatat gaaatttcca gaacaggcca atctgaagag
     2041 atgtatagtg gattggtggc tttcagcagc tgtggggagg tgggactgag gagcgactgc
     2101 taatcaggat ggggtttcct cctgggatgg tgaaaatgtt ccggacctag atagtgatga
     2161 aggtagcacg acactgtgag tgcactaaat gctattgaat tggacacttt agaatggttg
     2221 aaatagtgat ttttatgtga attctaccta aacatgctat tacagctcat atatactttt
     2281 tccatctgga ttcttcacaa aagaatatgt tgtgagcatc tttccatgat attaaatcat
     2341 cttaggaaac attattttgt gttcttcaaa atgtgcatgt taagtattca aatcagtctt
     2401 aaatttttaa aaatatgtaa ttttagaaaa taatttaaaa ggttttgttt cagtttgtaa
     2461 gatttctttt ctggcacttt aatggcttga ggtatcatta tcagttacaa attgagttat
     2521 tcttcatcaa atgacttttg gagtagagat tttattttta tagcaataga tgcacagata
     2581 ttcctgtaag atacaggtgt ggttagacac ttttctagaa caggcatgcc ctgcaaactc
     2641 cacagacact gactgttttt gtcctattaa gaagtagacc actgagaagg gagaaggtga
     2701 cattttagct ttcccaggta aaagtggttt tcatcctcac accaatttta tggactggac
     2761 gttaactctc ttgctcaagg tcactctgag tggaagagtg gggataaatc tggttcgttt
     2821 ggcatcagag gccatgactt ttcctaccac agaagtaatt ttcaaagtaa gtctctgccc
     2881 taggcacatc agatcacctg gggaccactc cagagtgagt agacaagact ttgacagggg
     2941 tgcctaattt tttttttttt ttgagatgga gtctcgctct gttgcccagg ctggagtgca
     3001 gtggcatgat ctcagttcac tgcaacctcc gcctcctgcg ttcaagtgat tgtcctgtct
     3061 cagcctccca agtagctggg attacaggca cccaccacca catccagcta attgttgtat
     3121 ttttaataga ggcggggttt cgccatgttg cactggctgg tgttgaactc ctaacctcag
     3181 gtgatccacc cgcctcggcc tcccaaagtg ctgggattac aggcccggtc cagtttgata
     3241 gtttgttatc atgttatacg tacacttaga ataatgatcc agccatctca ttctaacagc
     3301 aatgagaact taggctcccc tctctactaa aatacaaaag ttagctggtc atggtggtgc
     3361 gggcctgtaa tcccagctac tcgggaggct gatgcgggag aatcacttga aacccacagg
     3421 cggaggttgc agtgagctga ggtggtgcca ctacgctcca gcctggggga gggggacata
     3481 gcgagactcg gtctcaaaaa caaaacaaaa caaaacaaaa caaaacaaaa acaaaacaaa
     3541 acaaaacaaa acactgccaa actgtttcca aagcatctgc atcgtgttta atttccataa
     3601 gtaacgtatg agaattctag gtcctccaaa taattagcag tccttcgtag tgtcagtttt
     3661 tgtttcagcc ttccttatgg gtatgctgtg gcatatccct gagattttaa ttcgcatttt
     3721 ccagtgacta agggtgttga accactcgtg ccttcctgtg cctatttgac actcctatat
     3781 tttctttggt gaagtgtctg ttcaatcatc tgctcattaa attttccttc ggttgtttgc
     3841 cttcttattg ttggattttg agagttctat gtacaagtcc tttgtcagtc gtgtgatttg
     3901 caagtcttct tcctagtctc tgaagtttct ttctttcata gagcaaacgt tttaaatttt
     3961 tatgaagtaa gacttctcag ttttattttt ggtgaattat gtttatactg ccatatatag
     4021 gaactctttg cttaactgga ggtcatggag attttctcct acattttctt ttaaaagttt
     4081 tatagtttca gagtttacat gtaattccat aatctccatt tagttaaatt ttgtatgggg
     4141 tgtgaactgt ggtttgactg ttttcttgta tatggatatc caattgtttc acacaatttt
     4201 tttgaaaaga atatccttgg cagggcacgg tagctcacac ctgtaatccc agcactttag
     4261 gaggtcaagg tgggcagatc atgaggtcag gagtttgaga ccagcctggc caatatggtg
     4321 aaaccacgtc tctattaaaa atagaaaaat tagccaggcg tggtggtgtg tgcctgtatt
     4381 cacagctgct tggatggctg aggcaggaga atcgcttgaa cccaggagtc agaggtttca
     4441 gtgagccgag attgtgccac tgcactccag cctgggtgaa agagctagat tctctctctc
     4501 aaaaaaaaaa aaaaaaaaaa ggaaagaaag aaagaaaaga aaagaaaatc ctttttgctt
     4561 taacttgcct tgcaggtttg tagaaaactc aattgttgaa atttgggtgg atatatttct
     4621 ggattttcta ttctattcca tgttggacca ataccacact gccctagtca ctgttgcatt
     4681 atagtatatc tttaaaggag taatgggaat ccttcaacta cattttttcc ccaataattt
     4741 ttggctattc tgcttccttt gtgtttctat gtaaatttta tcatcagtgt gtctatttct
     4801 acaaatagtc ctgatagggt ttgaattggg atttctgtga atctatagat caatctgagg
     4861 agacttaata atgatattga ttctcccaat tcatgaatat agtatacccc tgtatttatt
     4921 tgttttcttg aatttctttt atcattgttt tgtagttttc accatgacag tcttgcacat
     4981 attttgttaa atgtacagct gagaatttaa ttttttctgg tgtacaatgc taataaaatg
     5041 gtgctttaaa aga
//
LOCUS       NM_000898               2570 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens monoamine oxidase B (MAOB), mRNA.
ACCESSION   NM_000898
VERSION     NM_000898.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2570)
  AUTHORS   Konjevod M, Sreter KB, Popovic-Grle S, Lampalo M, Tudor L, Jukic I,
            Nedic Erjavec G, Bingulac-Popovic J, Safic Stanic H, Nikolac
            Perkovic M, Markeljevic J, Samarzija M, Pivac N and Svob Strac D.
  TITLE     Platelet Serotonin (5-HT) Concentration, Platelet Monoamine Oxidase
            B (MAO-B) Activity and HTR2A, HTR2C, and MAOB Gene Polymorphisms in
            Asthma
  JOURNAL   Biomolecules 13 (5), 800 (2023)
   PUBMED   37238670
  REMARK    GeneRIF: Platelet Serotonin (5-HT) Concentration, Platelet Monoamine
            Oxidase B (MAO-B) Activity and HTR2A, HTR2C, and MAOB Gene
            Polymorphisms in Asthma. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2570)
  AUTHORS   O'Higgins M, Benito A, Real-Lopez M, Gil-Miravet I, Ochoa E and Haro
            G.
  TITLE     Relationship of DRD5 and MAO-B VNTR polymorphisms with paranoid and
            antisocial personality disorders in polydrug users
  JOURNAL   Personal Ment Health 17 (1), 77-86 (2023)
   PUBMED   35961947
  REMARK    GeneRIF: Relationship of DRD5 and MAO-B VNTR polymorphisms with
            paranoid and antisocial personality disorders in polydrug users.
REFERENCE   3  (bases 1 to 2570)
  AUTHORS   Repovecki S, Nedic Erjavec G, Uzun S, Tudor L, Nikolac Perkovic M,
            Konjevod M, Kozumplik O, Svob Strac D, Kovacic Petrovic Z, Mimica N
            and Pivac N.
  TITLE     Reduced Platelet MAO-B Activity Is Associated with Psychotic,
            Positive, and Depressive Symptoms in PTSD
  JOURNAL   Biomolecules 12 (5), 736 (2022)
   PUBMED   35625663
  REMARK    GeneRIF: Reduced Platelet MAO-B Activity Is Associated with
            Psychotic, Positive, and Depressive Symptoms in PTSD. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 2570)
  AUTHORS   Nam MH, Sa M, Ju YH, Park MG and Lee CJ.
  TITLE     Revisiting the Role of Astrocytic MAOB in Parkinson's Disease
  JOURNAL   Int J Mol Sci 23 (8), 4453 (2022)
   PUBMED   35457272
  REMARK    GeneRIF: Revisiting the Role of Astrocytic MAOB in Parkinson's
            Disease. Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2570)
  AUTHORS   Marsavelski A, Mavri J, Vianello R and Stare J.
  TITLE     Why Monoamine Oxidase B Preferably Metabolizes N-Methylhistamine
            over Histamine: Evidence from the Multiscale Simulation of the
            Rate-Limiting Step
  JOURNAL   Int J Mol Sci 23 (3), 1910 (2022)
   PUBMED   35163835
  REMARK    GeneRIF: Why Monoamine Oxidase B Preferably Metabolizes
            N-Methylhistamine over Histamine: Evidence from the Multiscale
            Simulation of the Rate-Limiting Step. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 2570)
  AUTHORS   Zhu QS, Grimsby J, Chen K and Shih JC.
  TITLE     Promoter organization and activity of human monoamine oxidase (MAO)
            A and B genes
  JOURNAL   J Neurosci 12 (11), 4437-4446 (1992)
   PUBMED   1432104
REFERENCE   7  (bases 1 to 2570)
  AUTHORS   Grimsby J, Chen K, Wang LJ, Lan NC and Shih JC.
  TITLE     Human monoamine oxidase A and B genes exhibit identical exon-intron
            organization
  JOURNAL   Proc Natl Acad Sci U S A 88 (9), 3637-3641 (1991)
   PUBMED   2023912
REFERENCE   8  (bases 1 to 2570)
  AUTHORS   Bach AW, Lan NC, Johnson DL, Abell CW, Bembenek ME, Kwan SW, Seeburg
            PH and Shih JC.
  TITLE     cDNA cloning of human liver monoamine oxidase A and B: molecular
            basis of differences in enzymatic properties
  JOURNAL   Proc Natl Acad Sci U S A 85 (13), 4934-4938 (1988)
   PUBMED   3387449
REFERENCE   9  (bases 1 to 2570)
  AUTHORS   Kochersperger,L.M., Parker,E.L., Siciliano,M., Darlington,G.J. and
            Denney,R.M.
  TITLE     Assignment of genes for human monoamine oxidases A and B to the X
            chromosome
  JOURNAL   J Neurosci Res 16 (4), 601-616 (1986)
   PUBMED   3540317
REFERENCE   10  (bases 1 to 2570)
  AUTHORS   Pearce,L.B. and Roth,J.A.
  TITLE     Human brain monoamine oxidase type B: mechanism of deamination as
            probed by steady-state methods
  JOURNAL   Biochemistry 24 (8), 1821-1826 (1985)
   PUBMED   4016087
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK312679.1, BC022494.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000378069.5/ ENSP00000367309.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC326844.1, M69177.1,
            BM726427.1 and AL133791.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000898.4.
            Summary: The protein encoded by this gene belongs to the flavin
            monoamine oxidase family. It is a enzyme located in the
            mitochondrial outer membrane. It catalyzes the oxidative
            deamination of biogenic and xenobiotic amines and plays an
            important role in the metabolism of neuroactive and vasoactive
            amines in the central nervous sysytem and peripheral tissues. This
            protein preferentially degrades benzylamine and phenylethylamine.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2570
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.3"
     gene            1..2570
                     /gene="MAOB"
                     /note="monoamine oxidase B"
                     /db_xref="GeneID:4129"
                     /db_xref="HGNC:HGNC:6834"
                     /db_xref="MIM:309860"
     misc_feature    5..7
                     /gene="MAOB"
                     /note="upstream in-frame stop codon"
     CDS             152..1714
                     /gene="MAOB"
                     /EC_number="1.4.3.4"
                     /EC_number="1.4.3.21"
                     /note="MAO, platelet; MAO, brain; tyramine oxidase;
                     adrenalin oxidase; MAO-B; monoamine oxidase type B"
                     /codon_start=1
                     /product="amine oxidase [flavin-containing] B"
                     /protein_id="NP_000889.3"
                     /db_xref="CCDS:CCDS14261.1"
                     /db_xref="GeneID:4129"
                     /db_xref="HGNC:HGNC:6834"
                     /db_xref="MIM:309860"
                     /translation="MSNKCDVVVVGGGISGMAAAKLLHDSGLNVVVLEARDRVGGRTYT
                     LRNQKVKYVDLGGSYVGPTQNRILRLAKELGLETYKVNEVERLIHHVKGKSYPFRGPFP
                     PVWNPITYLDHNNFWRTMDDMGREIPSDAPWKAPLAEEWDNMTMKELLDKLCWTESAKQ
                     LATLFVNLCVTAETHEVSALWFLWYVKQCGGTTRIISTTNGGQERKFVGGSGQVSERIM
                     DLLGDRVKLERPVIYIDQTRENVLVETLNHEMYEAKYVISAIPPTLGMKIHFNPPLPMM
                     RNQMITRVPLGSVIKCIVYYKEPFWRKKDYCGTMIIDGEEAPVAYTLDDTKPEGNYAAI
                     MGFILAHKARKLARLTKEERLKKLCELYAKVLGSLEALEPVHYEEKNWCEEQYSGGCYT
                     TYFPPGILTQYGRVLRQPVDRIYFAGTETATHWSGYMEGAVEAGERAAREILHAMGKIP
                     EDEIWQSEPESVDVPAQPITTTFLERHLPSVPGLLRLIGLTTIFSATALGFLAHKRGLL
                     VRV"
     misc_feature    155..157
                     /gene="MAOB"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:11049757; propagated from
                     UniProtKB/Swiss-Prot (P27338.3); acetylation site"
     misc_feature    305..307
                     /gene="MAOB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8BW75; propagated from
                     UniProtKB/Swiss-Prot (P27338.3); acetylation site"
     misc_feature    617..619
                     /gene="MAOB"
                     /note="Important for catalytic activity; propagated from
                     UniProtKB/Swiss-Prot (P27338.3); other site"
     misc_feature    1244..1246
                     /gene="MAOB"
                     /note="Important for catalytic activity; propagated from
                     UniProtKB/Swiss-Prot (P27338.3); other site"
     misc_feature    1295..1297
                     /gene="MAOB"
                     /note="Important for catalytic activity; propagated from
                     UniProtKB/Swiss-Prot (P27338.3); other site"
     misc_feature    1619..1699
                     /gene="MAOB"
                     /note="propagated from UniProtKB/Swiss-Prot (P27338.3);
                     transmembrane region"
     regulatory      2550..2555
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAOB"
                     /note="hexamer: AATAAA"
     polyA_site      2570
                     /gene="MAOB"
                     /note="major polyA site"
ORIGIN
        1 aatatagcgg ctcgccgagg cgctggtgca cgggggcagc gcgcagcagg ccggcgggca
       61 ggcgggcggg ctggctggca ggcaggactg ggatcgaggc ccagaaaacg gagcagcggg
      121 caccagggag gcctggaacg gggcgagcgc catgagcaac aaatgcgacg tggtcgtggt
      181 ggggggcggc atctcaggta tggcagcagc caaacttctg catgactctg gactgaatgt
      241 ggttgttctg gaagcccggg accgtgtggg aggcaggact tacactctta ggaaccaaaa
      301 ggttaaatat gtggaccttg gaggatccta tgttggacca acccagaatc gtatcttgag
      361 attagccaag gagctaggat tggagaccta caaagtgaat gaggttgagc gtctgatcca
      421 ccatgtaaag ggcaaatcat accccttcag ggggccattc ccacctgtat ggaatccaat
      481 tacctactta gatcataaca acttttggag gacaatggat gacatggggc gagagattcc
      541 gagtgatgcc ccatggaagg ctccccttgc agaagagtgg gacaacatga caatgaagga
      601 gctactggac aagctctgct ggactgaatc tgcaaagcag cttgccactc tctttgtgaa
      661 cctgtgtgtc actgcagaga cccatgaggt ctctgctctc tggttcctgt ggtatgtgaa
      721 gcagtgtgga ggcacaacaa gaatcatctc gacaacaaat ggaggacagg agaggaaatt
      781 tgtgggcgga tctggtcaag tgagtgagcg gataatggac ctccttggag accgagtgaa
      841 gctggagagg cctgtgatct acattgacca gacaagagaa aatgtccttg tggagaccct
      901 aaaccatgag atgtatgagg ctaaatatgt gattagtgct attcctccta ctctgggcat
      961 gaagattcac ttcaatcccc ctctgccaat gatgagaaac cagatgatca ctcgtgtgcc
     1021 tttgggttca gtcatcaagt gtatagttta ttataaagag cctttctgga ggaaaaagga
     1081 ttactgtgga accatgatta ttgatggaga agaagctcca gttgcctaca cgttggatga
     1141 taccaaacct gaaggcaact atgctgccat aatgggattt atcctggccc acaaagccag
     1201 aaaactggca cgtcttacca aagaggaaag gttgaagaaa ctttgtgaac tctatgccaa
     1261 ggttctgggt tccctagaag ctctggagcc agtgcattat gaagaaaaga actggtgtga
     1321 ggagcagtac tctgggggct gctacacaac ttatttcccc cctgggatcc tgactcaata
     1381 tggaagggtt ctacgccagc cagtggacag gatttacttt gcaggcaccg agactgccac
     1441 acactggagc ggctacatgg agggggctgt agaggccggg gagagagcag cccgagagat
     1501 cctgcatgcc atggggaaga ttccagagga tgaaatctgg cagtcagaac cagagtctgt
     1561 ggatgtccct gcacagccca tcaccaccac ctttttggag agacatttgc cctccgtgcc
     1621 aggcctgctc aggctgattg gattgaccac catcttttca gcaacggctc ttggcttcct
     1681 ggcccacaaa agggggctac ttgtgagagt ctaaagagag agggtgtctg taatcacact
     1741 ctcttcttac tgtatttggg atatgagttt ggggaaagag ttgcagtaaa gttccatgaa
     1801 gacaaatagt gtggagtgag gcggggagca tgaagataaa tccaactctg actgtaaaat
     1861 acatggtatc tctttctccg ttgtggcccc tgcttagtgt cccttacctg gcttagcgtt
     1921 ctgtttcacc agtttccaag tttattgccc tcaaaatctt tagaatagtt aaattggctt
     1981 gtttaaggtt cttgctgccc cacaacacac cttgcccatg cacaaggaat gaattttttc
     2041 ctaccattat ggctttgtgc ttgttcttcc tcttacctgt aatagcctca ccttccctag
     2101 ttctttgcat tcgtccttag aatactgtat tgttacagct gaaagacagt aaagaccatt
     2161 tagtcctcac cttctgtttt agagttgagc aaactgaagc ccacagaggt ggaacttaat
     2221 tacctaagag ccacaataag ccactggtat ctgggggact agaacacaaa tccaacgctt
     2281 ttcccacctc tttggatgtt ttccccaatt atcctccttc actccctgtc atagttaccg
     2341 atggtgtccc gttgtgtggg tttactctgt gctaagttgt cttacacttc tcaaatgcta
     2401 ctcagtatat agccttaagt cttactgttt tgtgcggtgt gtctccagct gattttaact
     2461 tttttgatgg tagaaatttt atctcttctt ccttttgtat cctccattgt atcttcatac
     2521 aaaggacagt acacacttgg gtaattaaaa ataaaagttg attgaccata
//
LOCUS       NM_000899               5441 bp    mRNA    linear   PRI 11-JUN-2023
DEFINITION  Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.
ACCESSION   NM_000899
VERSION     NM_000899.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5441)
  AUTHORS   Franke K, Bal G, Li Z, Zuberbier T and Babina M.
  TITLE     Clorfl86/RHEX Is a Negative Regulator of SCF/KIT Signaling in Human
            Skin Mast Cells
  JOURNAL   Cells 12 (9), 1306 (2023)
   PUBMED   37174705
  REMARK    GeneRIF: Clorfl86/RHEX Is a Negative Regulator of SCF/KIT Signaling
            in Human Skin Mast Cells. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5441)
  AUTHORS   Zhou Y, Huangfu S, Li M, Tang C, Qian J, Guo M, Zhou Z, Yang Y and
            Gu C.
  TITLE     DAZAP1 facilitates the alternative splicing of KITLG to promote
            multiple myeloma cell proliferation via ERK signaling pathway
  JOURNAL   Aging (Albany NY) 14 (19), 7972-7985 (2022)
   PUBMED   36242590
  REMARK    GeneRIF: DAZAP1 facilitates the alternative splicing of KITLG to
            promote multiple myeloma cell proliferation via ERK signaling
            pathway.
REFERENCE   3  (bases 1 to 5441)
  AUTHORS   Huang JC, Chen SC, Chang WA, Hung WW, Wu PH, Wu LY, Chang JM, Hsu YL
            and Tsai YC.
  TITLE     KITLG Promotes Glomerular Endothelial Cell Injury in Diabetic
            Nephropathy by an Autocrine Effect
  JOURNAL   Int J Mol Sci 23 (19), 11723 (2022)
   PUBMED   36233032
  REMARK    GeneRIF: KITLG Promotes Glomerular Endothelial Cell Injury in
            Diabetic Nephropathy by an Autocrine Effect. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 5441)
  AUTHORS   Vona B, Schwartzbaum DA, Rodriguez AA, Lewis SS, Toosi MB,
            Radhakrishnan P, Bozan N, Akin R, Doosti M, Manju R, Duman D, Sineni
            CJ, Nampoothiri S, Karimiani EG, Houlden H, Bademci G, Tekin M,
            Girisha KM, Maroofian R and Douzgou S.
  TITLE     Biallelic KITLG variants lead to a distinct spectrum of
            hypomelanosis and sensorineural hearing loss
  JOURNAL   J Eur Acad Dermatol Venereol 36 (9), 1606-1611 (2022)
   PUBMED   35543077
  REMARK    GeneRIF: Biallelic KITLG variants lead to a distinct spectrum of
            hypomelanosis and sensorineural hearing loss.
REFERENCE   5  (bases 1 to 5441)
  AUTHORS   Mashayekhi F, Shabani S, Sasani ST and Salehi Z.
  TITLE     The association of stem cell factor and soluble c-Kit (s-cKit)
            receptor serum concentrations with the severity and risk prediction
            of autism spectrum disorders
  JOURNAL   Metab Brain Dis 37 (3), 619-624 (2022)
   PUBMED   35023029
  REMARK    GeneRIF: The association of stem cell factor and soluble c-Kit
            (s-cKit) receptor serum concentrations with the severity and risk
            prediction of autism spectrum disorders.
REFERENCE   6  (bases 1 to 5441)
  AUTHORS   Lu HS, Clogston CL, Wypych J, Parker VP, Lee TD, Swiderek K, Baltera
            RF Jr, Patel AC, Chang DC, Brankow DW et al.
  TITLE     Post-translational processing of membrane-associated recombinant
            human stem cell factor expressed in Chinese hamster ovary cells
  JOURNAL   Arch Biochem Biophys 298 (1), 150-158 (1992)
   PUBMED   1381905
REFERENCE   7  (bases 1 to 5441)
  AUTHORS   Sharkey A, Jones DS, Brown KD and Smith SK.
  TITLE     Expression of messenger RNA for kit-ligand in human placenta:
            localization by in situ hybridization and identification of
            alternatively spliced variants
  JOURNAL   Mol Endocrinol 6 (8), 1235-1241 (1992)
   PUBMED   1383693
REFERENCE   8  (bases 1 to 5441)
  AUTHORS   Toyota M, Hinoda Y, Itoh F, Tsujisaki M, Imai K and Yachi A.
  TITLE     Expression of two types of kit ligand mRNAs in human tumor cells
  JOURNAL   Int J Hematol 55 (3), 301-304 (1992)
   PUBMED   1379846
REFERENCE   9  (bases 1 to 5441)
  AUTHORS   Lev S, Yarden Y and Givol D.
  TITLE     A recombinant ectodomain of the receptor for the stem cell factor
            (SCF) retains ligand-induced receptor dimerization and antagonizes
            SCF-stimulated cellular responses
  JOURNAL   J Biol Chem 267 (15), 10866-10873 (1992)
   PUBMED   1375232
REFERENCE   10  (bases 1 to 5441)
  AUTHORS   Huang EJ, Nocka KH, Buck J and Besmer P.
  TITLE     Differential expression and processing of two cell associated forms
            of the kit-ligand: KL-1 and KL-2
  JOURNAL   Mol Biol Cell 3 (3), 349-362 (1992)
   PUBMED   1378327
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853566.6956.1,
            SRR11853567.7581.1 [ECO:0000332]
            RNAseq introns :: mixed/partial sample support SAMEA1965299,
            SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000644744.1/ ENSP00000495951.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC320486.1, BC126166.1,
            AC024941.30 and AK025245.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000899.4.
            Summary: This gene encodes the ligand of the tyrosine-kinase
            receptor encoded by the KIT locus. This ligand is a pleiotropic
            factor that acts in utero in germ cell and neural cell development,
            and hematopoiesis, all believed to reflect a role in cell
            migration. In adults, it functions pleiotropically, while mostly
            noted for its continued requirement in hematopoiesis. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (b) encodes the longer isoform (b)
            which contains the primary proteolytic-cleavage site; as a result,
            isoform b is largely a soluble product.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5441
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.32"
     gene            1..5441
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /note="KIT ligand"
                     /db_xref="GeneID:4254"
                     /db_xref="HGNC:HGNC:6343"
                     /db_xref="MIM:184745"
     misc_feature    140..142
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /note="upstream in-frame stop codon"
     CDS             194..1015
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /EC_number="3.2.1.31"
                     /note="isoform b precursor is encoded by transcript variant
                     b; familial progressive hyperpigmentation 2; mast cell
                     growth factor; stem cell factor; steel factor; c-Kit
                     ligand"
                     /codon_start=1
                     /product="kit ligand isoform b precursor"
                     /protein_id="NP_000890.1"
                     /db_xref="CCDS:CCDS31868.1"
                     /db_xref="GeneID:4254"
                     /db_xref="HGNC:HGNC:6343"
                     /db_xref="MIM:184745"
                     /translation="MKKTQTWILTCIYLQLLLFNPLVKTEGICRNRVTNNVKDVTKLVA
                     NLPKDYMITLKYVPGMDVLPSHCWISEMVVQLSDSLTDLLDKFSNISEGLSNYSIIDKL
                     VNIVDDLVECVKENSSKDLKKSFKSPEPRLFTPEEFFRIFNRSIDAFKDFVVASETSDC
                     VVSSTLSPEKDSRVSVTKPFMLPPVAASSLRNDSSSSNRKAKNPPGDSSLHWAAMALPA
                     LFSLIIGFAFGALYWKKRQPSLTRAVENIQINEEDNEISMLQEKEREFQEV"
     sig_peptide     194..268
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     269..1012
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /product="kit ligand isoform b"
     mat_peptide     269..763
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /product="Soluble KIT ligand. /id=PRO_0000403391"
                     /note="propagated from UniProtKB/Swiss-Prot (P21583.1)"
     misc_feature    461..463
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /note="N-linked (GlcNAc...) asparagine, partial.
                     /evidence=ECO:0000269|PubMed:1381905; propagated from
                     UniProtKB/Swiss-Prot (P21583.1); glycosylation site"
     misc_feature    482..484
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /note="Not glycosylated; propagated from
                     UniProtKB/Swiss-Prot (P21583.1); other site"
     misc_feature    545..547
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /note="N-linked (GlcNAc...) asparagine, partial.
                     /evidence=ECO:0000269|PubMed:1381905; propagated from
                     UniProtKB/Swiss-Prot (P21583.1); glycosylation site"
     misc_feature    626..628
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:1381905; propagated from
                     UniProtKB/Swiss-Prot (P21583.1); glycosylation site"
     misc_feature    692..694
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:1381905; propagated from
                     UniProtKB/Swiss-Prot (P21583.1); glycosylation site"
     misc_feature    695..697
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:1381905; propagated from
                     UniProtKB/Swiss-Prot (P21583.1); glycosylation site"
     misc_feature    731..733
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:1381905; propagated from
                     UniProtKB/Swiss-Prot (P21583.1); glycosylation site"
     misc_feature    776..778
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P21583.1); glycosylation site"
     misc_feature    836..904
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /note="propagated from UniProtKB/Swiss-Prot (P21583.1);
                     transmembrane region"
     regulatory      5418..5423
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /note="hexamer: AATAAA"
     polyA_site      5441
                     /gene="KITLG"
                     /gene_synonym="DCUA; DFNA69; FPH2; FPHH; Kitl; KL-1; MGF;
                     SCF; SF; SHEP7; SLF; WS2F"
                     /note="major polyA site"
ORIGIN
        1 gcttcgctcg ccgcctcgcg ccgagactag aagcgctgcg ggaagcaggg acagtggaga
       61 gggcgctgcg ctcgggctac ccaatgcgtg gactatctgc cgccgctgtt cgtgcaatat
      121 gctggagctc cagaacagct aaacggagtc gccacaccac tgtttgtgct ggatcgcagc
      181 gctgcctttc cttatgaaga agacacaaac ttggattctc acttgcattt atcttcagct
      241 gctcctattt aatcctctcg tcaaaactga agggatctgc aggaatcgtg tgactaataa
      301 tgtaaaagac gtcactaaat tggtggcaaa tcttccaaaa gactacatga taaccctcaa
      361 atatgtcccc gggatggatg ttttgccaag tcattgttgg ataagcgaga tggtagtaca
      421 attgtcagac agcttgactg atcttctgga caagttttca aatatttctg aaggcttgag
      481 taattattcc atcatagaca aacttgtgaa tatagtggat gaccttgtgg agtgcgtgaa
      541 agaaaactca tctaaggatc taaaaaaatc attcaagagc ccagaaccca ggctctttac
      601 tcctgaagaa ttctttagaa tttttaatag atccattgat gccttcaagg actttgtagt
      661 ggcatctgaa actagtgatt gtgtggtttc ttcaacatta agtcctgaga aagattccag
      721 agtcagtgtc acaaaaccat ttatgttacc ccctgttgca gccagctccc ttaggaatga
      781 cagcagtagc agtaatagga aggccaaaaa tccccctgga gactccagcc tacactgggc
      841 agccatggca ttgccagcat tgttttctct tataattggc tttgcttttg gagccttata
      901 ctggaagaag agacagccaa gtcttacaag ggcagttgaa aatatacaaa ttaatgaaga
      961 ggataatgag ataagtatgt tgcaagagaa agagagagag tttcaagaag tgtaattgtg
     1021 gcttgtatca acactgttac tttcgtacat tggctggtaa cagttcatgt ttgcttcata
     1081 aatgaagcag ctttaaacaa attcatattc tgtctggagt gacagaccac atctttatct
     1141 gttcttgcta cccatgactt tatatggatg attcagaaat tggaacagaa tgttttactg
     1201 tgaaactggc actgaattaa tcatctataa agaagaactt gcatggagca ggactctatt
     1261 ttaaggactg cgggacttgg gtctcattta gaacttgcag ctgatgttgg aagagaaagc
     1321 acgtgtctca gactgcatgt accatttgca tggctccaga aatgtctaaa tgctgaaaaa
     1381 acacctagct ttattcttca gatacaaact gcagcctgta gttatcctgg tctctgcaag
     1441 tagatttcag cttggatagt gagggtaaca atttttctca aagggatctg gaaaaaatgt
     1501 ttaaaactca gtagtgtcag ccactgtaca gtgtagaaag cagtgggaac tgtgattgga
     1561 tttggcaaca tgtcagcttt atagttgccg attagtgata tgggtctgat ttcgatctct
     1621 tcctgatgta aaccatgctc acccatatcc cactatacaa atgcaaatgg ttgcctggtt
     1681 ccatttatgc aagggagcca gtactgaatt atgccttggc agaggggaga ctccaaaaga
     1741 gtcatcgcag gaagaagtta agaacactga acatcagaac agtctgccaa gaaggacatt
     1801 ggcatcctgg gaaagtccgc cttttccctt gaccactata gggtgtataa atcgtgtttg
     1861 caaaatgtgt tatgatgtgt ttatattcta aaactattac agagctatgt aaagggactt
     1921 aggagaaaat gctgaatgta agatggtccc atttcaattt ccaccatggg agagcctaaa
     1981 aataaattat gacatttagt atctaaggtt agaaaaccac gcccacatgc taatatgggt
     2041 gttgaaaact aggttactta taatgcaagg aatcaggaaa ctttagttat ttatagtata
     2101 atcaccatta tctgtttaaa ggatccattt agttaaaatc gggcactcta tattcattaa
     2161 ggtttatgaa ttaaaaagaa agctttatgt agttatgcat gtcagtttgc tatttaaaat
     2221 gtgtgacagt gtttgtcata ttaagagtga atttggcagg aattcccaag atggacattg
     2281 tgcttttaaa ctagaacttg taagacatta tgtgaatatc ccttgccaat tttttttata
     2341 ataagaaaac atctgactaa agtcaaagaa tgatttctta tggtttattt tgatgaaagt
     2401 tcttttaaca tgtcttgaat gtacacataa aggaatccaa agctttccat tctaacttaa
     2461 tctttgtgat aacattattg ccatgttcta caaccgtaag atgacagttt tcaatgtagt
     2521 gacacaaaag ggcatgaaaa actaactgct agctttcctt tcatttcaaa agtccaagaa
     2581 tttctagtat atttggattt tagcttctgt tcaaagcaaa tccagatgca actccagtaa
     2641 gtggcctttg ctcttttttg taccaaagag cccagatgat tcctacagtc cctttcttct
     2701 ctaacatgct gtggttcctt aaatatgagt aatttctcta agatataacc caggtgcttt
     2761 gagaagctgc attaaggtgt tcaggccctc agatatcaca tggtacactt gattagtaat
     2821 aaaaccagag atcaatttaa attgctgata ggtcctgtct cagtgtgtgg cattgactgt
     2881 tttcaggaaa atagatacag attaatatga gttatgcgtg taggttgtgt atagattgag
     2941 aagatagata cttctcaatc tagtagtttg atttatttaa ccaatggttt cagtttgctt
     3001 gagcatatga aaatcctgct taatgtgctt aagagtataa taaatgtgta cttttgtcct
     3061 caaacctagt agctgggttt taacactcat ggacatggtc ttaatcaatg gagttaaata
     3121 aacaaattca gcaagttatt aaatctgaca tggtaggaga ggggagatgt gtcctgctta
     3181 ttaaatgtgt tggtccattg aaagttacat ggattgccaa tttttaaaac actaaagttg
     3241 aataaaatgc atgaacaata gaaaaatgct gaacattatt ttggatgcta gctgcttgga
     3301 cattaactgt gttatttctg ctttgagatg aaaatatata tttatctttg cttattttat
     3361 cccagatgtg ttctgaatat ccttcttcat aaatcatgga aaactcactg ctgagatagt
     3421 aaaccatgaa atcgcctttt cagttggtgc catgtatctg acagttccat cttggaaggt
     3481 ttcaaaatta ccttttaaaa tgatctcaga agtctgtaga ttctcaatga tactgaaagc
     3541 tttgcacctc tttggtagaa accaggtcta tttagaaaat ggctttatga taaatgttgc
     3601 ctcctgagtg ataatgaagt gttcctggat attgtattgt aatttaatgt gcttaccaca
     3661 ctgccacatt ttaatgagtc agagaaaaat taatttttct tcaatacaat aatagaacaa
     3721 gtagcctatt ctcttaaaaa gtatgtgaaa agaaaattat gaaaaaatat gcatacctaa
     3781 tgaagtattg gttttagtaa gaattaaata catttcattg agctttaaag tactttggag
     3841 aaactttggg gcacgttttc ctactctaat tcaactaaag ttataaataa agagaaaaac
     3901 tcattcagaa atcatggatt ttaaaaatat tttactgcag ccaagttttc atttcaaaat
     3961 gtaatttcag tttggagctt ttaggcatta tgtatattta aaaaatatat tcttcaaaaa
     4021 tgcattttgg catggtggga tggatgttgc aaaagatatc cggagcctcc agtctgtcat
     4081 taactgatat ggtaaatcac ctctcttctt tgggtctcaa ttttttattt atctatatgg
     4141 taaactcaga gatcactcct taggggtgag tcctattgca atatgaccga caaagaagac
     4201 aaaatagcat tgaaactaac ccatacaaaa tatccaactc tggattctgt gaataagtat
     4261 cttgaccata aaaagtcatt gctgttcttg tttctaatgt aaatagtgtc cattagtaaa
     4321 agtgaaattc agtcttaagt agggtgaatt ggatcaccat ttacacaaga gatggctttt
     4381 tcctttgctt gaataaacat tttggatcac ctccaaagaa tgaaaaccag tagtacgttt
     4441 tagtcatatt agtcaggatg agaaactata agatgtgtgt aacatttgga aatgcaccaa
     4501 agtgagcgtt taaatcttct cattttattg aaaactaaga gcagaaaatg taaaatgctc
     4561 atgaaggttt tgaatgccaa aagatatttt agaatcaatt tataaagggg taattcatta
     4621 attacacttt aaaattggaa agtgggataa gaaatctaaa gtaaaccagc ttatctttga
     4681 aacaatatta ttttgaaatt ggctttaaaa taaaaccatt cagattgaaa ttctaattag
     4741 ctcatttgtg gagtttgatc acacaattca taatgttgct gctttccatt aactagtctt
     4801 gaaatgcctt tgtttgtaaa aataaaataa tggtactttc attttataac aaggtgtttt
     4861 tttcaagaaa taatccatgc taaaatggat atttgtgatc ctgaaatgtt tactaagcat
     4921 tgtaaattta tttataactg ccatctccaa ctacatcctt atgatgtttt taacaataaa
     4981 attaaaacaa ctgttaaact aaaaaccaca ccgttttcca gtacttgatc tctgagctac
     5041 aatactcact aaatataatt ttccaatcaa aatattctat tctatattct aagggttaat
     5101 atgtgattat agtgtccact tgccaccatt tttttaaatc aatggacttg aaaagtatta
     5161 atttagatgg atgcgcagat ataccctcag ttcagtcata gattggagtt tgcatataat
     5221 aatgtaaatg tatgtcgaca ctattctaaa tagttctatt atgactgaaa tttaattaaa
     5281 taaaaaaggt tgtaaaatgt gatgtgtatg tgtatatact gtatgtgtac tttttaaaat
     5341 aggtgtatgt cccaaccctt ttttatacag gtttgaattt aaaattacat gatatataca
     5401 tatactttat tgttctaaat aaagaatttt atgcactctc a
//
LOCUS       NM_000900               1650 bp    mRNA    linear   PRI 26-JUL-2023
DEFINITION  Homo sapiens matrix Gla protein (MGP), transcript variant 2, mRNA.
ACCESSION   NM_000900
VERSION     NM_000900.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1650)
  AUTHORS   Li X, Xu X, Liu L, Tian Y, Gao Y, Zhu G, Lou S, Zhong W, Li D and
            Pan Y.
  TITLE     lncRNA MIR31HG Regulates Proliferation and Migration by Targeting
            Matrix Gla Protein in Nonsyndromic Cleft Lip With or Without Cleft
            Palate
  JOURNAL   DNA Cell Biol 42 (7), 390-398 (2023)
   PUBMED   37327028
  REMARK    GeneRIF: lncRNA MIR31HG Regulates Proliferation and Migration by
            Targeting Matrix Gla Protein in Nonsyndromic Cleft Lip With or
            Without Cleft Palate.
REFERENCE   2  (bases 1 to 1650)
  AUTHORS   Yuan W, Liu W, Zhang Y, Wang X, Xu C, Li Q, Ji P, Wang J, Feng P, Wu
            Y, Shen H and Wang P.
  TITLE     Reduced APPL1 impairs osteogenic differentiation of mesenchymal stem
            cells by facilitating MGP expression to disrupt the BMP2 pathway in
            osteoporosis
  JOURNAL   J Biol Chem 299 (6), 104823 (2023)
   PUBMED   37187293
  REMARK    GeneRIF: Reduced APPL1 impairs osteogenic differentiation of
            mesenchymal stem cells by facilitating MGP expression to disrupt the
            BMP2 pathway in osteoporosis.
REFERENCE   3  (bases 1 to 1650)
  AUTHORS   Nieddu V, Melocchi V, Battistini C, Franciosa G, Lupia M, Stellato
            C, Bertalot G, Olsen JV, Colombo N, Bianchi F and Cavallaro U.
  TITLE     Matrix Gla Protein drives stemness and tumor initiation in ovarian
            cancer
  JOURNAL   Cell Death Dis 14 (3), 220 (2023)
   PUBMED   36977707
  REMARK    GeneRIF: Matrix Gla Protein drives stemness and tumor initiation in
            ovarian cancer. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1650)
  AUTHORS   Xing YM, Li PS and Liu Y.
  TITLE     1,25-(OH)2D3 participates and modulates airway remodeling by
            reducing MGP and TGF-beta1 expression in TNF-alpha-induced airway
            smooth muscle cells
  JOURNAL   Adv Clin Exp Med 31 (2), 151-155 (2022)
   PUBMED   35025148
  REMARK    GeneRIF: 1,25-(OH)2D3 participates and modulates airway remodeling
            by reducing MGP and TGF-beta1 expression in TNF-alpha-induced airway
            smooth muscle cells.
REFERENCE   5  (bases 1 to 1650)
  AUTHORS   Malhotra R, Nicholson CJ, Wang D, Bhambhani V, Paniagua S, Slocum C,
            Sigurslid HH, Lino Cardenas CL, Li R, Boerboom SL, Chen YC, Hwang
            SJ, Yao C, Ichinose F, Bloch DB, Lindsay ME, Lewis GD, Aragam JR,
            Hoffmann U, Mitchell GF, Hamburg NM, Vasan RS, Benjamin EJ, Larson
            MG, Zapol WM, Cheng S, Roh JD, O'Donnell CJ, Nguyen C, Levy D and Ho
            JE.
  TITLE     Matrix Gla Protein Levels Are Associated With Arterial Stiffness and
            Incident Heart Failure With Preserved Ejection Fraction
  JOURNAL   Arterioscler Thromb Vasc Biol 42 (2), e61-e73 (2022)
   PUBMED   34809448
  REMARK    GeneRIF: Matrix Gla Protein Levels Are Associated With Arterial
            Stiffness and Incident Heart Failure With Preserved Ejection
            Fraction.
REFERENCE   6  (bases 1 to 1650)
  AUTHORS   Price PA, Rice JS and Williamson MK.
  TITLE     Conserved phosphorylation of serines in the Ser-X-Glu/Ser(P)
            sequences of the vitamin K-dependent matrix Gla protein from shark,
            lamb, rat, cow, and human
  JOURNAL   Protein Sci 3 (5), 822-830 (1994)
   PUBMED   8061611
REFERENCE   7  (bases 1 to 1650)
  AUTHORS   Hale JE, Williamson MK and Price PA.
  TITLE     Carboxyl-terminal proteolytic processing of matrix Gla protein
  JOURNAL   J Biol Chem 266 (31), 21145-21149 (1991)
   PUBMED   1939157
REFERENCE   8  (bases 1 to 1650)
  AUTHORS   Cancela L, Hsieh CL, Francke U and Price PA.
  TITLE     Molecular structure, chromosome assignment, and promoter
            organization of the human matrix Gla protein gene
  JOURNAL   J Biol Chem 265 (25), 15040-15048 (1990)
   PUBMED   2394711
REFERENCE   9  (bases 1 to 1650)
  AUTHORS   Chen L, O'Bryan JP, Smith HS and Liu E.
  TITLE     Overexpression of matrix Gla protein mRNA in malignant human breast
            cells: isolation by differential cDNA hybridization
  JOURNAL   Oncogene 5 (9), 1391-1395 (1990)
   PUBMED   2216462
REFERENCE   10  (bases 1 to 1650)
  AUTHORS   Kiefer MC, Bauer DM, Young D, Hermsen KM, Masiarz FR and Barr PJ.
  TITLE     The cDNA and derived amino acid sequences for human and bovine
            matrix Gla protein
  JOURNAL   Nucleic Acids Res 16 (11), 5213 (1988)
   PUBMED   3387234
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.283314.1, BC093078.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000539261.6/ ENSP00000445907.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007655.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000900.4.
            Summary: This gene encodes a member of the osteocalcin/matrix Gla
            family of proteins. The encoded vitamin K-dependent protein is
            secreted by chondrocytes and vascular smooth muscle cells, and
            functions as a physiological inhibitor of ectopic tissue
            calcification. Carboxylation status of the encoded protein is
            associated with calcification of the vasculature in human patients
            with cardiovascular disease and calcification of the synovial
            membranes in osteoarthritis patients. Mutations in this gene cause
            Keutel syndrome in human patients, which is characterized by
            abnormal cartilage calcification, peripheral pulmonary stenosis and
            facial hypoplasia. [provided by RefSeq, Sep 2016].
            Transcript Variant: This variant (2) represents the shorter
            transcript and encodes the shorter isoform (2).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1650
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.3"
     gene            1..1650
                     /gene="MGP"
                     /gene_synonym="GIG36; MGLAP; NTI"
                     /note="matrix Gla protein"
                     /db_xref="GeneID:4256"
                     /db_xref="HGNC:HGNC:7060"
                     /db_xref="MIM:154870"
     CDS             64..375
                     /gene="MGP"
                     /gene_synonym="GIG36; MGLAP; NTI"
                     /note="isoform 2 preproprotein is encoded by transcript
                     variant 2; cell growth-inhibiting gene 36 protein"
                     /codon_start=1
                     /product="matrix Gla protein isoform 2 preproprotein"
                     /protein_id="NP_000891.2"
                     /db_xref="CCDS:CCDS8669.1"
                     /db_xref="GeneID:4256"
                     /db_xref="HGNC:HGNC:7060"
                     /db_xref="MIM:154870"
                     /translation="MKSLILLAILAALAVVTLCYESHESMESYELNPFINRRNANTFIS
                     PQQRWRAKVQERIRERSKPVHELNREACDDYRLCERYAMVYGYNAAYNRYFRKRRGTK"
     sig_peptide     64..120
                     /gene="MGP"
                     /gene_synonym="GIG36; MGLAP; NTI"
                     /note="propagated from UniProtKB/Swiss-Prot (P08493.2)"
     mat_peptide     121..351
                     /gene="MGP"
                     /gene_synonym="GIG36; MGLAP; NTI"
                     /product="Matrix Gla protein. /id=PRO_0000011109"
                     /note="propagated from UniProtKB/Swiss-Prot (P08493.2)"
     misc_feature    124..126
                     /gene="MGP"
                     /gene_synonym="GIG36; MGLAP; NTI"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P07507,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P08493.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    127..129
                     /gene="MGP"
                     /gene_synonym="GIG36; MGLAP; NTI"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:8061611;
                     propagated from UniProtKB/Swiss-Prot (P08493.2);
                     phosphorylation site"
     misc_feature    136..138
                     /gene="MGP"
                     /gene_synonym="GIG36; MGLAP; NTI"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:8061611;
                     propagated from UniProtKB/Swiss-Prot (P08493.2);
                     phosphorylation site"
     misc_feature    145..147
                     /gene="MGP"
                     /gene_synonym="GIG36; MGLAP; NTI"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:8061611;
                     propagated from UniProtKB/Swiss-Prot (P08493.2);
                     phosphorylation site"
     misc_feature    229..231
                     /gene="MGP"
                     /gene_synonym="GIG36; MGLAP; NTI"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P07507,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P08493.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    241..243
                     /gene="MGP"
                     /gene_synonym="GIG36; MGLAP; NTI"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P07507,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P08493.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    262..264
                     /gene="MGP"
                     /gene_synonym="GIG36; MGLAP; NTI"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P07507,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P08493.2); gamma-carboxyglutamic-acid
                     site"
     misc_feature    274..276
                     /gene="MGP"
                     /gene_synonym="GIG36; MGLAP; NTI"
                     /note="4-carboxyglutamate.
                     /evidence=ECO:0000250|UniProtKB:P07507,
                     ECO:0000255|PROSITE-ProRule:PRU00463; propagated from
                     UniProtKB/Swiss-Prot (P08493.2); gamma-carboxyglutamic-acid
                     site"
     regulatory      598..603
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MGP"
                     /gene_synonym="GIG36; MGLAP; NTI"
                     /note="hexamer: AATAAA"
     polyA_site      623
                     /gene="MGP"
                     /gene_synonym="GIG36; MGLAP; NTI"
                     /note="major polyA site"
     regulatory      1587..1592
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MGP"
                     /gene_synonym="GIG36; MGLAP; NTI"
                     /note="hexamer: TATAAA"
     polyA_site      1609
                     /gene="MGP"
                     /gene_synonym="GIG36; MGLAP; NTI"
ORIGIN
        1 gtaggagcct ctctccctac tgctgctaca caagaccctg agactgacct gcaggacgaa
       61 accatgaaga gcctgatcct tcttgccatc ctggccgcct tagcggtagt aactttgtgt
      121 tatgaatcac atgaaagcat ggaatcttat gaacttaatc ccttcattaa caggagaaat
      181 gcaaatacct tcatatcccc tcagcagaga tggagagcta aagtccaaga gaggatccga
      241 gaacgctcta agcctgtcca cgagctcaat agggaagcct gtgatgacta cagactttgc
      301 gaacgctacg ccatggttta tggatacaat gctgcctata atcgctactt caggaagcgc
      361 cgagggacca aatgagactg agggaagaaa aaaaatctct ttttttctgg aggctggcac
      421 ctgattttgt atccccctgt agcagcatta cagaaataca taggcttata tacaatgctt
      481 ctttcctgta tattctcttg tctggctgca cccctttttc ccgcccccag attgataagt
      541 aatgaaagtg cactgcagtg agggtcaaag gagagtcaac atatgtgatt gttccataat
      601 aaacttctgg tgtgatactt tcatcttgta aatctgcttt cttttgggaa gatattgaga
      661 tatttaaatc atggcccacc ttacccaaaa taggagattc tgttcatctc atatctagta
      721 ttaattagaa aaataactac ataaaaagaa ggaagctaag aaggcactca ctcagccata
      781 aattctctaa accctctcta ccttggaatc cgtgaatgga atctggtatg ttttttgcag
      841 gattttccta ttgtaaattg tggcaaatac agggctccct tcatttgctt ttcatctctt
      901 atgcatcaaa gtcaaaaaca tttctgaatc aagataatct agaagagaaa aaaggaggaa
      961 aaggaaaaga gaaagcagaa gggacaaata aaagcaattg gcaaaaactg tcaataatag
     1021 tttatacact taactatatc aataatcaca ttatatgtaa atagtctaaa caatccaatt
     1081 attttttact tctacttatg ttatattttt acttctacat ttgttaaagg ttccacgcta
     1141 catttttact attcttgctt taaataattt taataatttc ttttaaagtt tagataataa
     1201 gaaaatatcc cgggccaggc acagtggcca cacctgtaat ctcagtagcc atgaccatac
     1261 caatgcactc cagcctgtga aacagagtga gactctgtct ctacagaaaa ataaaaaaga
     1321 aaagaaagaa aagatctcat atatttaccc atgtaatttt catttcctgt tttcttcatt
     1381 cttctttcca tctggtgtca cttcctttct gcctgacgac ttcctttaac gttttttata
     1441 gttcaggtct gcaggattct ttaagttttg tatgcttgtt tttattcttg aaagatattt
     1501 tcactgtata ttgaatccca agttgccacg tttcttttaa ttattttaag gtattccact
     1561 gaattctagc ttgcacaatt tttcgatata aaatttgttg taattcttac ctttgttcca
     1621 ctgtgtatac tgcatctttt atctctggct
//
LOCUS       NM_000901               5792 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens nuclear receptor subfamily 3 group C member 2 (NR3C2),
            transcript variant 1, mRNA.
ACCESSION   NM_000901
VERSION     NM_000901.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5792)
  AUTHORS   Chen X, Li W and Chang C.
  TITLE     NR3C2 mediates oxidised low-density lipoprotein-induced human
            coronary endothelial cells dysfunction via modulation of NLRP3
            inflammasome activation
  JOURNAL   Autoimmunity 56 (1), 2189135 (2023)
   PUBMED   36919662
  REMARK    GeneRIF: NR3C2 mediates oxidised low-density lipoprotein-induced
            human coronary endothelial cells dysfunction via modulation of NLRP3
            inflammasome activation.
REFERENCE   2  (bases 1 to 5792)
  AUTHORS   Fujii W and Shibata S.
  TITLE     Mineralocorticoid Receptor Antagonists for Preventing Chronic Kidney
            Disease Progression: Current Evidence and Future Challenges
  JOURNAL   Int J Mol Sci 24 (9), 7719 (2023)
   PUBMED   37175424
  REMARK    GeneRIF: Mineralocorticoid Receptor Antagonists for Preventing
            Chronic Kidney Disease Progression: Current Evidence and Future
            Challenges. Review article Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5792)
  AUTHORS   Liu H, Lei W, Li Z, Wang X and Zhou L.
  TITLE     NR3C2 inhibits the proliferation of colorectal cancer via regulating
            glucose metabolism and phosphorylating AMPK
  JOURNAL   J Cell Mol Med 27 (8), 1069-1082 (2023)
   PUBMED   36950803
  REMARK    GeneRIF: NR3C2 inhibits the proliferation of colorectal cancer via
            regulating glucose metabolism and phosphorylating AMPK.
REFERENCE   4  (bases 1 to 5792)
  AUTHORS   Vassiliou AG, Vassiliadi DA, Keskinidou C, Jahaj E, Botoula E,
            Tsagarakis S, Kotanidou A and Dimopoulou I.
  TITLE     Down-Regulation of the Mineralocorticoid Receptor (MR) and
            Up-Regulation of Hydroxysteroid 11-Beta Dehydrogenase Type 2
            (HSD11B2) Isoenzyme in Critically Ill Patients
  JOURNAL   Clin Med Res 21 (1), 6-13 (2023)
   PUBMED   37130784
  REMARK    GeneRIF: Down-Regulation of the Mineralocorticoid Receptor (MR) and
            Up-Regulation of Hydroxysteroid 11-Beta Dehydrogenase Type 2
            (HSD11B2) Isoenzyme in Critically Ill Patients.
REFERENCE   5  (bases 1 to 5792)
  AUTHORS   Amin M, Perrelli M, Wu R and Gragnoli C.
  TITLE     The mineralocorticoid receptor gene (NR3C2) is linked to and
            associated with polycystic ovarian syndrome in Italian families
  JOURNAL   Eur Rev Med Pharmacol Sci 27 (3), 942-948 (2023)
   PUBMED   36808340
  REMARK    GeneRIF: The mineralocorticoid receptor gene (NR3C2) is linked to
            and associated with polycystic ovarian syndrome in Italian families.
REFERENCE   6  (bases 1 to 5792)
  AUTHORS   Bloem LJ, Guo C and Pratt JH.
  TITLE     Identification of a splice variant of the rat and human
            mineralocorticoid receptor genes
  JOURNAL   J Steroid Biochem Mol Biol 55 (2), 159-162 (1995)
   PUBMED   7495694
REFERENCE   7  (bases 1 to 5792)
  AUTHORS   Alnemri ES, Maksymowych AB, Robertson NM and Litwack G.
  TITLE     Overexpression and characterization of the human mineralocorticoid
            receptor
  JOURNAL   J Biol Chem 266 (27), 18072-18081 (1991)
   PUBMED   1655735
REFERENCE   8  (bases 1 to 5792)
  AUTHORS   Morrison N, Harrap SB, Arriza JL, Boyd E and Connor JM.
  TITLE     Regional chromosomal assignment of the human mineralocorticoid
            receptor gene to 4q31.1
  JOURNAL   Hum Genet 85 (1), 130-132 (1990)
   PUBMED   2162806
REFERENCE   9  (bases 1 to 5792)
  AUTHORS   Fan YS, Eddy RL, Byers MG, Haley LL, Henry WM, Nowak NJ and Shows
            TB.
  TITLE     The human mineralocorticoid receptor gene (MLR) is located on
            chromosome 4 at q31.2
  JOURNAL   Cytogenet Cell Genet 52 (1-2), 83-84 (1989)
   PUBMED   2558856
REFERENCE   10  (bases 1 to 5792)
  AUTHORS   Arriza,J.L., Weinberger,C., Cerelli,G., Glaser,T.M., Handelin,B.L.,
            Housman,D.E. and Evans,R.M.
  TITLE     Cloning of human mineralocorticoid receptor complementary DNA:
            structural and functional kinship with the glucocorticoid receptor
  JOURNAL   Science 237 (4812), 268-275 (1987)
   PUBMED   3037703
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M16801.1, SRR14038192.3515272.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000358102.8/ ENSP00000350815.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB232659.1, AC093881.2,
            M16801.1, AC093678.4 and BQ184536.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000901.4.
            Summary: This gene encodes the mineralocorticoid receptor, which
            mediates aldosterone actions on salt and water balance within
            restricted target cells. The protein functions as a
            ligand-dependent transcription factor that binds to
            mineralocorticoid response elements in order to transactivate
            target genes. Mutations in this gene cause autosomal dominant
            pseudohypoaldosteronism type I, a disorder characterized by urinary
            salt wasting. Defects in this gene are also associated with early
            onset hypertension with severe exacerbation in pregnancy.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Oct 2009].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5792
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.23"
     gene            1..5792
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="nuclear receptor subfamily 3 group C member 2"
                     /db_xref="GeneID:4306"
                     /db_xref="HGNC:HGNC:7979"
                     /db_xref="MIM:600983"
     misc_feature    171..173
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="upstream in-frame stop codon"
     CDS             258..3212
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aldosterone receptor; mineralocorticoid receptor delta;
                     mineralocorticoid receptor 1; mineralocorticoid receptor 2"
                     /codon_start=1
                     /product="mineralocorticoid receptor isoform 1"
                     /protein_id="NP_000892.2"
                     /db_xref="CCDS:CCDS3772.1"
                     /db_xref="GeneID:4306"
                     /db_xref="HGNC:HGNC:7979"
                     /db_xref="MIM:600983"
                     /translation="METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEI
                     VNVSCVSGAIPNNSTQGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAES
                     MGLYMDSVRDADYSYEQQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRS
                     FMSDSGSSVNGGVMRAVVKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGS
                     FPVHSPITQGTPLTCSPNVENRGSRSHSPAHASNVGSPLSSPLSSMKSSISSPPSHCSV
                     KSPVSSPNNVTLRSSVSSPANINNSRCSVSSPSNTNNRSTLSSPAASTVGSICSPVNNA
                     FSYTASGTSAGSSTLRDVVPSPDTQEKGAQEVPFPKTEEVESAISNGVTGQLNIVQYIK
                     PEPDGAFSSSCLGGNSKINSDSSFSVPIKQESTKHSCSGTSFKGNPTVNPFPFMDGSYF
                     SFMDDKDYYSLSGILGPPVPGFDGNCEGSGFPVGIKQEPDDGSYYPEASIPSSAIVGVN
                     SGGQSFHYRIGAQGTISLSRSARDQSFQHLSSFPPVNTLVESWKSHGDLSSRRSDGYPV
                     LEYIPENVSSSTLRSVSTGSSRPSKICLVCGDEASGCHYGVVTCGSCKVFFKRAVEGQH
                     NYLCAGRNDCIIDKIRRKNCPACRLQKCLQAGMNLGARKSKKLGKLKGIHEEQPQQQQP
                     PPPPPPPQSPEEGTTYIAPAKEPSVNTALVPQLSTISRALTPSPVMVLENIEPEIVYAG
                     YDSSKPDTAENLLSTLNRLAGKQMIQVVKWAKVLPGFKNLPLEDQITLIQYSWMCLSSF
                     ALSWRSYKHTNSQFLYFAPDLVFNEEKMHQSAMYELCQGMHQISLQFVRLQLTFEEYTI
                     MKVLLLLSTIPKDGLKSQAAFEEMRTNYIKELRKMVTKCPNNSGQSWQRFYQLTKLLDS
                     MHDLVSDLLEFCFYTFRESHALKVEFPAMLVEIISDQLPKVESGNAKPLYFHRK"
     misc_feature    258..2063
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="propagated from UniProtKB/Swiss-Prot (P08235.2);
                     Region: Modulating"
     misc_feature    948..1244
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="propagated from UniProtKB/Swiss-Prot (P08235.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1005..1007
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VII8; propagated from
                     UniProtKB/Swiss-Prot (P08235.2); phosphorylation site"
     misc_feature    1032..1034
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VII8; propagated from
                     UniProtKB/Swiss-Prot (P08235.2); phosphorylation site"
     misc_feature    1104..1106
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VII8; propagated from
                     UniProtKB/Swiss-Prot (P08235.2); phosphorylation site"
     misc_feature    1116..1118
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VII8; propagated from
                     UniProtKB/Swiss-Prot (P08235.2); phosphorylation site"
     misc_feature    1152..1154
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VII8; propagated from
                     UniProtKB/Swiss-Prot (P08235.2); phosphorylation site"
     misc_feature    1296..1376
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="propagated from UniProtKB/Swiss-Prot (P08235.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2262..2432
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="propagated from UniProtKB/Swiss-Prot (P08235.2);
                     Region: Hinge"
     misc_feature    2307..2387
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="propagated from UniProtKB/Swiss-Prot (P08235.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2601..2612
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="propagated from UniProtKB/Swiss-Prot (P08235.2);
                     Region: Important for coactivator binding"
     regulatory      5771..5776
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="hexamer: AATAAA"
     polyA_site      5792
                     /gene="NR3C2"
                     /gene_synonym="MCR; MLR; MR; NR3C2VIT"
                     /note="major polyA site"
ORIGIN
        1 ctctcagccc ctccgcgccc ggggtgtcat tgggcccggg agacgggagc caacttcagg
       61 ctgctcagag gaagcccgtg cagtcagtca cctgggtgca agagcgttgc tgcctcgggc
      121 tctcccgctg cagggagagc ggcactcgct ggcctggatg tggttggatt taggggggct
      181 ccgcagcagg ggtttcgtgg cggtggcaag cgctgcaaca ggtagacggc gagagacgga
      241 ccccggccga ggcagcgatg gagaccaaag gctaccacag tctccctgaa ggtctagata
      301 tggaaagacg gtggggtcaa gtttctcagg ctgtggagcg ttcttccctg ggacctacag
      361 agaggaccga tgagaataac tacatggaga ttgtcaacgt aagctgtgtt tccggtgcta
      421 ttccaaacaa cagtactcaa ggaagcagca aagaaaaaca agaactactc ccttgccttc
      481 agcaagacaa taatcggcct gggattttaa catctgatat taaaactgag ctggaatcta
      541 aggaactttc agcaactgta gctgagtcca tgggtttata tatggattct gtaagagatg
      601 ctgactattc ctatgagcag cagaaccaac aaggaagcat gagtccagct aagatttatc
      661 agaatgttga acagctggtg aaattttaca aaggaaatgg ccatcgtcct tccactctaa
      721 gttgtgtgaa cacgcccttg agatcattta tgtctgactc tgggagctcc gtgaatggtg
      781 gcgtcatgcg cgccgttgtt aaaagcccta tcatgtgtca tgagaaaagc ccgtctgttt
      841 gcagccctct gaacatgaca tcttcggttt gcagccctgc tggaatcaac tctgtgtcct
      901 ccaccacagc cagctttggc agttttccag tgcacagccc aatcacccag ggaactcctc
      961 tgacatgctc ccctaatgtt gaaaatcgag gctccaggtc gcacagccct gcacatgcta
     1021 gcaatgtggg ctctcctctc tcaagtccgt taagtagcat gaaatcctca atttccagcc
     1081 ctccaagtca ctgcagtgta aaatctccag tctccagtcc caataatgtc actctgagat
     1141 cctctgtgtc tagccctgca aatattaaca actcaaggtg ctctgtttcc agcccttcga
     1201 acactaataa cagatccacg ctttccagtc cggcagccag tactgtggga tctatctgta
     1261 gccctgtaaa caatgccttc agctacactg cttctggcac ctctgctgga tccagtacat
     1321 tgcgggatgt ggttcccagt ccagacacgc aggagaaagg tgctcaagag gtcccttttc
     1381 ctaagactga ggaagtagag agtgccatct caaatggtgt gactggccag cttaatattg
     1441 tccagtacat aaaaccagaa ccagatggag cttttagcag ctcatgtcta ggaggaaata
     1501 gcaaaataaa ttcggattct tcattctcag taccaataaa gcaagaatca accaagcatt
     1561 catgttcagg cacctctttt aaagggaatc caacagtaaa cccgtttcca tttatggatg
     1621 gctcgtattt ttcctttatg gatgataaag actattattc cctatcagga attttaggac
     1681 cacctgtgcc cggctttgat ggtaactgtg aaggcagcgg attcccagtg ggtattaaac
     1741 aagaaccaga tgatgggagc tattacccag aggccagcat cccttcctct gctattgttg
     1801 gggtgaattc aggtggacag tccttccact acaggattgg tgctcaaggt acaatatctt
     1861 tatcacgatc ggctagagac caatctttcc aacacctgag ttcctttcct cctgtcaata
     1921 ctttagtgga gtcatggaaa tcacacggcg acctgtcgtc tagaagaagt gatgggtatc
     1981 cggtcttaga atacattcca gaaaatgtat caagctctac tttacgaagt gtttctactg
     2041 gatcttcaag accttcaaaa atatgtttgg tgtgtgggga tgaggcttca ggatgccatt
     2101 atggggtagt cacctgtggc agctgcaaag ttttcttcaa aagagcagtg gaagggcaac
     2161 acaactattt atgtgctgga agaaatgatt gcatcattga taagattcga cgaaagaatt
     2221 gtcctgcttg cagacttcag aaatgtcttc aagctggaat gaatttagga gcacgaaagt
     2281 caaagaagtt gggaaagtta aaagggattc acgaggagca gccacagcag cagcagcccc
     2341 cacccccacc cccacccccg caaagcccag aggaagggac aacgtacatc gctcctgcaa
     2401 aagaaccctc ggtcaacaca gcactggttc ctcagctctc cacaatctca cgagcgctca
     2461 caccttcccc cgttatggtc cttgaaaaca ttgaacctga aattgtatat gcaggctatg
     2521 acagctcaaa accagataca gccgaaaatc tgctctccac gctcaaccgc ttagcaggca
     2581 aacagatgat ccaagtcgtg aagtgggcaa aggtacttcc aggatttaaa aacttgcctc
     2641 ttgaggacca aattacccta atccagtatt cttggatgtg tctatcatca tttgccttga
     2701 gctggagatc gtacaaacat acgaacagcc aatttctcta ttttgcacca gacctagtct
     2761 ttaatgaaga gaagatgcat cagtctgcca tgtatgaact atgccagggg atgcaccaaa
     2821 tcagccttca gttcgttcga ctgcagctca cctttgaaga atacaccatc atgaaagttt
     2881 tgctgctact aagcacaatt ccaaaggatg gcctcaaaag ccaggctgca tttgaagaaa
     2941 tgaggacaaa ttacatcaaa gaactgagga agatggtaac taagtgtccc aacaattctg
     3001 ggcagagctg gcagaggttc taccaactga ccaagctgct ggactccatg catgacctgg
     3061 tgagcgacct gctggaattc tgcttctaca ccttccgaga gtcccatgcg ctgaaggtag
     3121 agttccccgc aatgctggtg gagatcatca gcgaccagct gcccaaggtg gagtcgggga
     3181 acgccaagcc gctctacttc caccggaagt gactgcccgc tgcccagaag aactttgcct
     3241 taagtttccc tgtgttgttc cacacccaga aggacccaag aaaacctgtt tttaacatgt
     3301 gatggttgat tcacacttgt tcaacagttt ctcaagttta aagtcatgtc agaggtttgg
     3361 agccgggaaa gctgtttttc cgtggatttg gcgagaccag agcagtctga aggattcccc
     3421 acctccaatc ccccagcgct tagaaacatg ttcctgttcc tcgggatgaa aagccatatc
     3481 tagtcaataa ctctgatttt gatattttca cagatggaag aagttttaac tatgccgtgt
     3541 agtttctggt atcgttcgct tgttttaaaa gggttcaagg actaacgaac gttttaaagc
     3601 ttacccttgg tttgcacata aaacgtatag tcaatatggg gcattaatat tcttttgtta
     3661 ttaaaaaaac acaaaaaaat aataaaaaaa tatatacaga ttcctgttgt gtaataacag
     3721 aactcgtggc gtggggcagc agctgcctct gagccctcgc tcgtccacgg tcttctgcat
     3781 cactggtata cacactcgtt agcgtccatt tcttatttaa ttagaatgga taagatgatg
     3841 ttaaatgcct tggtttgatt tctagtatct attgtgttgg ctttacaaat aattttttgc
     3901 agtcttttgc tgtgctgtac attactgtat gtataaatta tgaaggacct gaaataaggt
     3961 ataaggatct tttgtaaatg agacacatac aaaaaaaatc tttaatggtt aataggatga
     4021 atgggaaagt atttttgaaa gaattctatt ttgctggaga ctatttaagt actatctttg
     4081 tctaaacaag gtaatttttt tttgtaaagt gcaatgtcct gcatgcataa tgaaccgttt
     4141 acagtgtatt taagaaaggg aaagctgtgc cttttttagc ttcatatcta atttaccatt
     4201 attttacagt ctctgttgta aataaccaca ctgaaacctc ttcggttgtc ttgaaacctt
     4261 tctacttttt ctgtactttt tgttttgttc ttggtctccc gcttggggca tttgtgggac
     4321 tccagcacgt tttctggctt ctgcttcatc ctgctccatc ggggaatgac acactgcggt
     4381 gtctgcagct cctggaaggt gtcatttgac aacacatgtg ggagaggagg tccttggagt
     4441 gctgcagctt tgggaaagct gcctcgtttc ccttttcctc tagaagcaga accagctcta
     4501 cgagagtgag actgggaact tgatggctca gagagcatct tttcctccca ttttagaaaa
     4561 tcagattttc tcctgtggga aaaaaaaatt ccatgcactc tctctctgtt aaagatcagc
     4621 tattcccttc tgatcttgga aagaggttct gcactcctgg aaccggtcac aggaacgcac
     4681 agatcatggc aggatgcgct gggacggccc atcttggcaa ggttcagtct gaatggcatg
     4741 gagaccggga gatagagggg ttttagattt ttaaaaggta ggttttaaaa ataagtttta
     4801 tacataaaca gttttggaga aaaattacag atcatataag caagacagtg gcactaaaat
     4861 gtttaattca ttaatctgtt tgtttggcac tgatgcaatg tatggctttt ctcttgcccc
     4921 aaatcacaaa catatgtatc tttggggaaa ctaacaatat gattgcacta aataaactac
     4981 tttgaataga ggccaaatta atcttttaaa aatgatgata atcatcaggt ttactcagtg
     5041 aaatcatatt aattattttc caaaatctaa aagctgtagc tggagaagcc catggccacg
     5101 aggaagcagc aattaattag atcaacactt ttctccaggg ttcaccatgc aggcaacatt
     5161 accttgtctt tcaaaagaca cctgccttat gcaaggggaa acctgtgaaa gctgcactca
     5221 gagggaggag tttttcttac ataatttgca atttcaggaa tttaatttat aggcagatct
     5281 ttaaatacag tcaacttacg gtgcacagta atatgaaagc cacactttga aggtaataaa
     5341 tacacagcat gcagactggg agttgctagc aaacaaatgg cttacttaca aaagcagctt
     5401 ttagttcaga cttagttttt ataaaatggg aattctgact tacttaacca ggtttgggat
     5461 ggagatggtc tgcatcagct ttttgtatta acaaagttac tggctctttg tgtgtctcca
     5521 ggtaactttg cttgattaaa cagcaaagcc atattctaaa ttcactgttg aatgcctgtc
     5581 ccagtccaaa ttgtctgtct gctcttattt ttgtaccata ttgctcttaa aaatcttggt
     5641 ttggtacagt tcataattca ccaaaagttc atataattta aagaaacact aaattagttt
     5701 aaaatgaagc aatttatatc tttatgcaaa aacatatgtc tgtctttgca aaggactgta
     5761 agcagattac aataaatcct ttactttaat ca
//
LOCUS       NM_000903               2521 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens NAD(P)H quinone dehydrogenase 1 (NQO1), transcript
            variant 1, mRNA.
ACCESSION   NM_000903
VERSION     NM_000903.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2521)
  AUTHORS   Zheng L, Yang S, Xu R, Yang Y, Quan J, Lin Z and Quan C.
  TITLE     NQO1 drives glioblastoma cell aggressiveness through EMT induction
            via the PI3K/Akt/mTOR/Snail pathway
  JOURNAL   Int J Oncol 63 (4) (2023)
   PUBMED   37594082
  REMARK    GeneRIF: NQO1 drives glioblastoma cell aggressiveness through EMT
            induction via the PI3K/Akt/mTOR/Snail pathway.
REFERENCE   2  (bases 1 to 2521)
  AUTHORS   Yu J, Zhong B, Zhao L, Hou Y, Ai N, Lu JJ, Ge W and Chen X.
  TITLE     Fighting drug-resistant lung cancer by induction of NAD(P)H:quinone
            oxidoreductase 1 (NQO1)-mediated ferroptosis
  JOURNAL   Drug Resist Updat 70, 100977 (2023)
   PUBMED   37321064
  REMARK    GeneRIF: Fighting drug-resistant lung cancer by induction of
            NAD(P)H:quinone oxidoreductase 1 (NQO1)-mediated ferroptosis.
REFERENCE   3  (bases 1 to 2521)
  AUTHORS   Liu Y, Guan H, Feng M, Du C, Zhang Q, Shou Y, Qi G, Yu D and Jin Y.
  TITLE     MiR-766-3p and miR-671-5p attenuate aristolochic acid-induced
            hepatotoxicity by directly targeting the key bioactivating enzyme
            NQO1
  JOURNAL   Ecotoxicol Environ Saf 261, 115103 (2023)
   PUBMED   37285672
  REMARK    GeneRIF: MiR-766-3p and miR-671-5p attenuate aristolochic
            acid-induced hepatotoxicity by directly targeting the key
            bioactivating enzyme NQO1.
REFERENCE   4  (bases 1 to 2521)
  AUTHORS   Qiu D, Song S, Chen N, Bian Y, Yuan C, Zhang W, Duan H and Shi Y.
  TITLE     NQO1 alleviates renal fibrosis by inhibiting the TLR4/NF-kappaB and
            TGF-beta/Smad signaling pathways in diabetic nephropathy
  JOURNAL   Cell Signal 108, 110712 (2023)
   PUBMED   37196773
  REMARK    GeneRIF: NQO1 alleviates renal fibrosis by inhibiting the
            TLR4/NF-kappaB and TGF-beta/Smad signaling pathways in diabetic
            nephropathy.
REFERENCE   5  (bases 1 to 2521)
  AUTHORS   Xu R, Liu Y, Ma L, Sun Y, Liu H, Yang Y, Jin T and Yang D.
  TITLE     NQO1/CPT1A promotes the progression of pancreatic adenocarcinoma via
            fatty acid oxidation
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 55 (5), 758-768 (2023)
   PUBMED   37249337
  REMARK    GeneRIF: NQO1/CPT1A promotes the progression of pancreatic
            adenocarcinoma via fatty acid oxidation.
REFERENCE   6  (bases 1 to 2521)
  AUTHORS   Li Y and Jaiswal AK.
  TITLE     Regulation of human NAD(P)H:quinone oxidoreductase gene. Role of AP1
            binding site contained within human antioxidant response element
  JOURNAL   J Biol Chem 267 (21), 15097-15104 (1992)
   PUBMED   1340765
  REMARK    Erratum:[J Biol Chem. 1993 Oct 5;268(28):21454. PMID: 8407991]
REFERENCE   7  (bases 1 to 2521)
  AUTHORS   Traver RD, Horikoshi T, Danenberg KD, Stadlbauer TH, Danenberg PV,
            Ross D and Gibson NW.
  TITLE     NAD(P)H:quinone oxidoreductase gene expression in human colon
            carcinoma cells: characterization of a mutation which modulates
            DT-diaphorase activity and mitomycin sensitivity
  JOURNAL   Cancer Res 52 (4), 797-802 (1992)
   PUBMED   1737339
REFERENCE   8  (bases 1 to 2521)
  AUTHORS   Jaiswal AK.
  TITLE     Human NAD(P)H:quinone oxidoreductase (NQO1) gene structure and
            induction by dioxin
  JOURNAL   Biochemistry 30 (44), 10647-10653 (1991)
   PUBMED   1657151
REFERENCE   9  (bases 1 to 2521)
  AUTHORS   Chen LZ, Harris PC, Apostolou S, Baker E, Holman K, Lane SA,
            Nancarrow JK, Whitmore SA, Stallings RL, Hildebrand CE et al.
  TITLE     A refined physical map of the long arm of human chromosome 16
  JOURNAL   Genomics 10 (2), 308-312 (1991)
   PUBMED   2071140
REFERENCE   10  (bases 1 to 2521)
  AUTHORS   Jaiswal AK, McBride OW, Adesnik M and Nebert DW.
  TITLE     Human dioxin-inducible cytosolic NAD(P)H:menadione oxidoreductase.
            cDNA sequence and localization of gene to chromosome 16
  JOURNAL   J Biol Chem 263 (27), 13572-13578 (1988)
   PUBMED   2843525
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.15706.1,
            SRR1803614.237687.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2153946,
            SAMEA2154405 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000320623.10/ ENSP00000319788.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM452267.1, BC007659.2,
            BM052991.1, BM787983.1, BM828301.1 and AV729122.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000903.2.
            Summary: This gene is a member of the NAD(P)H dehydrogenase
            (quinone) family and encodes a cytoplasmic 2-electron reductase.
            This FAD-binding protein forms homodimers and reduces quinones to
            hydroquinones. This protein's enzymatic activity prevents the one
            electron reduction of quinones that results in the production of
            radical species. Mutations in this gene have been associated with
            tardive dyskinesia (TD), an increased risk of hematotoxicity after
            exposure to benzene, and susceptibility to various forms of cancer.
            Altered expression of this protein has been seen in many tumors and
            is also associated with Alzheimer's disease (AD). Alternate
            transcriptional splice variants, encoding different isoforms, have
            been characterized. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2521
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..2521
                     /gene="NQO1"
                     /gene_synonym="DHQU; DIA4; DTD; NMOR1; NMORI; QR1"
                     /note="NAD(P)H quinone dehydrogenase 1"
                     /db_xref="GeneID:1728"
                     /db_xref="HGNC:HGNC:2874"
                     /db_xref="MIM:125860"
     misc_feature    53..55
                     /gene="NQO1"
                     /gene_synonym="DHQU; DIA4; DTD; NMOR1; NMORI; QR1"
                     /note="upstream in-frame stop codon"
     CDS             122..946
                     /gene="NQO1"
                     /gene_synonym="DHQU; DIA4; DTD; NMOR1; NMORI; QR1"
                     /EC_number="1.6.5.2"
                     /note="isoform a is encoded by transcript variant 1;
                     diaphorase (NADH/NADPH) (cytochrome b-5 reductase);
                     NAD(P)H:Quinone acceptor oxidoreductase type 1; quinone
                     reductase 1; DT-diaphorase; azoreductase; phylloquinone
                     reductase; menadione reductase; NAD(P)H:quinone
                     oxireductase; dioxin-inducible 1; NAD(P)H:menadione
                     oxidoreductase 1; diaphorase-4; NAD(P)H dehydrogenase,
                     quinone 1; NAD(P)H:quinone oxidoreductase 1;
                     NAD(P)H-quinone oxidoreductase"
                     /codon_start=1
                     /product="NAD(P)H dehydrogenase [quinone] 1 isoform a"
                     /protein_id="NP_000894.1"
                     /db_xref="CCDS:CCDS10883.1"
                     /db_xref="GeneID:1728"
                     /db_xref="HGNC:HGNC:2874"
                     /db_xref="MIM:125860"
                     /translation="MVGRRALIVLAHSERTSFNYAMKEAAAAALKKKGWEVVESDLYAM
                     NFNPIISRKDITGKLKDPANFQYPAESVLAYKEGHLSPDIVAEQKKLEAADLVIFQFPL
                     QWFGVPAILKGWFERVFIGEFAYTYAAMYDKGPFRSKKAVLSITTGGSGSMYSLQGIHG
                     DMNVILWPIQSGILHFCGFQVLEPQLTYSIGHTPADARIQILEGWKKRLENIWDETPLY
                     FAPSSLFDLNFQAGFLMKKEVQDEEKNKKFGLSVGHHLGKSIPTDNQIKARK"
     misc_feature    365..367
                     /gene="NQO1"
                     /gene_synonym="DHQU; DIA4; DTD; NMOR1; NMORI; QR1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P15559.1); phosphorylation site"
     misc_feature    794..943
                     /gene="NQO1"
                     /gene_synonym="DHQU; DIA4; DTD; NMOR1; NMORI; QR1"
                     /note="propagated from UniProtKB/Swiss-Prot (P15559.1);
                     Region: Important for apoenzyme conformational stability.
                     /evidence=ECO:0000269|PubMed:28291250"
     regulatory      1057..1062
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NQO1"
                     /gene_synonym="DHQU; DIA4; DTD; NMOR1; NMORI; QR1"
                     /note="hexamer: AATAAA"
     polyA_site      1081
                     /gene="NQO1"
                     /gene_synonym="DHQU; DIA4; DTD; NMOR1; NMORI; QR1"
                     /note="major polyA site"
     regulatory      2495..2500
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NQO1"
                     /gene_synonym="DHQU; DIA4; DTD; NMOR1; NMORI; QR1"
                     /note="hexamer: AATAAA"
     polyA_site      2521
                     /gene="NQO1"
                     /gene_synonym="DHQU; DIA4; DTD; NMOR1; NMORI; QR1"
ORIGIN
        1 acacgcgact cccacaaggt tgcagccgga gccgcccagc tcaccgagag cctagttccg
       61 gccagggtcg ccccggcaac cacgagccca gccaatcagc gccccggact gcaccagagc
      121 catggtcggc agaagagcac tgatcgtact ggctcactca gagaggacgt ccttcaacta
      181 tgccatgaag gaggctgctg cagcggcttt gaagaagaaa ggatgggagg tggtggagtc
      241 ggacctctat gccatgaact tcaatcccat catttccaga aaggacatca caggtaaact
      301 gaaggaccct gcgaactttc agtatcctgc cgagtctgtt ctggcttata aagaaggcca
      361 tctgagccca gatattgtgg ctgaacaaaa gaagctggaa gccgcagacc ttgtgatatt
      421 ccagttcccc ctgcagtggt ttggagtccc tgccattctg aaaggctggt ttgagcgagt
      481 gttcatagga gagtttgctt acacttacgc tgccatgtat gacaaaggac ccttccggag
      541 taagaaggca gtgctttcca tcaccactgg tggcagtggc tccatgtact ctctgcaagg
      601 gatccacggg gacatgaatg tcattctctg gccaattcag agtggcattc tgcatttctg
      661 tggcttccaa gtcttagaac ctcaactgac atatagcatt gggcacactc cagcagacgc
      721 ccgaattcaa atcctggaag gatggaagaa acgcctggag aatatttggg atgagacacc
      781 actgtatttt gctccaagca gcctctttga cctaaacttc caggcaggat tcttaatgaa
      841 aaaagaggta caggatgagg agaaaaacaa gaaatttggc ctttctgtgg gccatcactt
      901 gggcaagtcc atcccaactg acaaccagat caaagctaga aaatgagatt ccttagcctg
      961 gatttccttc taacatgtta tcaaatctgg gtatctttcc aggcttccct gacttgcttt
     1021 agtttttaag atttgtgttt ttctttttcc acaaggaata aatgagaggg aatcgactgt
     1081 attcgtgcat ttttggatca tttttaactg attcttatga ttactatcat ggcatataac
     1141 caaaatccga ctgggctcaa gaggccactt agggaaagat gtagaaagat gctagaaaaa
     1201 tgttctttaa aggcatctac acaatttaat tcctcttttt agggctaaag ttttagggta
     1261 cagtttggct aggtatcatt caactctcca atgttctatt aatcacctct ctgtagttta
     1321 tggcagaagg gaattgctca gagaaggaaa agactgaatc tacctgccct aagggactta
     1381 acttgtttgg tagttagcca tctaatgctt gtttatgata tttcttgctt tcaattacaa
     1441 agcagttact aatatgccta gcacaagtac cactcttggt cagcttttgt tgtttatata
     1501 cagtacacag ataccttgaa aggaagagct aataaatctc ttctttgctg cagtcatcta
     1561 cttttttttt aattaaaaaa aatttttttt tgaagcagtc ttgctctgtt acccaggctg
     1621 gagtgcagtg gtgtgatctc ggctcactgc aacctctgcc tcccaggttc cagcaattct
     1681 cctgcctcag cctccctagt agctgggatg acaggcgcct gccatcatgc ctgactaatt
     1741 tttgtatttt tagtagagac ggcgtttcac catgttggcc aggctggtct caaactcctg
     1801 acctcaggtg atccgcctac ctcagcctcc caaagtgctg ggattacagg cgtgatccac
     1861 cacacctggc ccttgcaatc ttctacttta aggtttgcag agataaacca ataaatccac
     1921 accgtacatc tgcaatatga attcaagaaa ggaaatagta ccttcaatac ttaaaaatag
     1981 tcttccacaa aaaatacttt atttctgatc tatacaaatt ttcagaaggt tattttcttt
     2041 atcattgcta aactgatgac ttactatggg atggggtcca gtcccatgac cttggggtac
     2101 aattgtaaac ctagagtttt atcaactttg gtgaacagtt ttggcataat agtcaatttc
     2161 tacttctgga agtcatctca ttccactgtt ggtattatat aattcaagga gaatatgata
     2221 aaacactgcc ctcttgtggt gcattgaaag aagagatgag aaatgatgaa aaggttgcct
     2281 gaaaaatggg agacagcctc ttacttgcca agaaaatgaa gggattggac cgagctggaa
     2341 aacctccttt accagatgct gactggcact ggtggttttt gctctcgaca gtatccacaa
     2401 tagctgacgg ctgggtgttt cagtttgaaa atattttgtt gccttcatct tcactgcaat
     2461 tttgtgtaaa tttctcaaag atctgaatta aataaataaa attcatttct acagacccac
     2521 a
//
LOCUS       NM_000904               1073 bp    mRNA    linear   PRI 23-JUL-2023
DEFINITION  Homo sapiens N-ribosyldihydronicotinamide:quinone dehydrogenase 2
            (NQO2), transcript variant 3, mRNA.
ACCESSION   NM_000904
VERSION     NM_000904.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1073)
  AUTHORS   Nakashima C, Fujiwara-Tani R, Mori S, Kishi S, Ohmori H, Fujii K,
            Mori T, Miyagawa Y, Yamamoto K, Kirita T, Luo Y and Kuniyasu H.
  TITLE     An Axis between the Long Non-Coding RNA HOXA11-AS and NQOs Enhances
            Metastatic Ability in Oral Squamous Cell Carcinoma
  JOURNAL   Int J Mol Sci 23 (18), 10704 (2022)
   PUBMED   36142607
  REMARK    GeneRIF: An Axis between the Long Non-Coding RNA HOXA11-AS and NQOs
            Enhances Metastatic Ability in Oral Squamous Cell Carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1073)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1073)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1073)
  AUTHORS   Megarity CF and Timson DJ.
  TITLE     Cancer-associated variants of human NQO1: impacts on inhibitor
            binding and cooperativity
  JOURNAL   Biosci Rep 39 (9) (2019)
   PUBMED   31431515
  REMARK    GeneRIF: Cancer-associated variants of human NQO1: impacts on
            inhibitor binding and cooperativity. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1073)
  AUTHORS   Cassagnes LE, Chhour M, Perio P, Sudor J, Gayon R, Ferry G, Boutin
            JA, Nepveu F and Reybier K.
  TITLE     Oxidative stress and neurodegeneration: The possible contribution of
            quinone reductase 2
  JOURNAL   Free Radic Biol Med 120, 56-61 (2018)
   PUBMED   29526807
  REMARK    GeneRIF: these data suggest that the overexpression of QR2 in brain
            cells in the presence of catechol quinones might lead to reactive
            oxygen species-induced cell death via the rapid conversion of
            superoxide radicals into hydrogen peroxide and then into highly
            reactive hydroxyl radicals
REFERENCE   6  (bases 1 to 1073)
  AUTHORS   Wu K, Knox R, Sun XZ, Joseph P, Jaiswal AK, Zhang D, Deng PS and
            Chen S.
  TITLE     Catalytic properties of NAD(P)H:quinone oxidoreductase-2 (NQO2), a
            dihydronicotinamide riboside dependent oxidoreductase
  JOURNAL   Arch Biochem Biophys 347 (2), 221-228 (1997)
   PUBMED   9367528
REFERENCE   7  (bases 1 to 1073)
  AUTHORS   Zhao Q, Yang XL, Holtzclaw WD and Talalay P.
  TITLE     Unexpected genetic and structural relationships of a long-forgotten
            flavoenzyme to NAD(P)H:quinone reductase (DT-diaphorase)
  JOURNAL   Proc Natl Acad Sci U S A 94 (5), 1669-1674 (1997)
   PUBMED   9050836
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1997 May 27;94(11):5979]
REFERENCE   8  (bases 1 to 1073)
  AUTHORS   Jaiswal AK.
  TITLE     Human NAD(P)H:quinone oxidoreductase2. Gene structure, activity, and
            tissue-specific expression
  JOURNAL   J Biol Chem 269 (20), 14502-14508 (1994)
   PUBMED   8182056
REFERENCE   9  (bases 1 to 1073)
  AUTHORS   Jaiswal AK, Burnett P, Adesnik M and McBride OW.
  TITLE     Nucleotide and deduced amino acid sequence of a human cDNA (NQO2)
            corresponding to a second member of the NAD(P)H:quinone
            oxidoreductase gene family. Extensive polymorphism at the NQO2 gene
            locus on chromosome 6
  JOURNAL   Biochemistry 29 (7), 1899-1906 (1990)
   PUBMED   1691923
REFERENCE   10  (bases 1 to 1073)
  AUTHORS   Jaiswal AK, McBride OW, Adesnik M and Nebert DW.
  TITLE     Human dioxin-inducible cytosolic NAD(P)H:menadione oxidoreductase.
            cDNA sequence and localization of gene to chromosome 16
  JOURNAL   J Biol Chem 263 (27), 13572-13578 (1988)
   PUBMED   2843525
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK311746.1, J02888.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380455.11/ ENSP00000369822.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133351.34.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 1, 2019 this sequence version replaced NM_000904.5.
            Summary: This gene encodes a member of the thioredoxin family of
            enzymes. It is a cytosolic and ubiquitously expressed flavoprotein
            that catalyzes the two-electron reduction of quinone substrates and
            uses dihydronicotinamide riboside as a reducing coenzyme. Mutations
            in this gene have been associated with neurodegenerative diseases
            and several cancers. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Mar 2014].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1073
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.2"
     gene            1..1073
                     /gene="NQO2"
                     /gene_synonym="DHQV; DIA6; NMOR2; QR2"
                     /note="N-ribosyldihydronicotinamide:quinone dehydrogenase
                     2"
                     /db_xref="GeneID:4835"
                     /db_xref="HGNC:HGNC:7856"
                     /db_xref="MIM:160998"
     CDS             278..973
                     /gene="NQO2"
                     /gene_synonym="DHQV; DIA6; NMOR2; QR2"
                     /EC_number="1.10.5.1"
                     /note="isoform 1 is encoded by transcript variant 3;
                     NAD(P)H menadione oxidoreductase-1, dioxin-inducible-2;
                     NAD(P)H quinone dehydrogenase 2; ribosyldihydronicotinamide
                     dehydrogenase; quinone reductase 2; NAD(P)H dehydrogenase,
                     quinone 2; NRH:quinone oxidoreductase 2;
                     N-ribosyldihydronicotinamide:quinone reductase 2"
                     /codon_start=1
                     /product="ribosyldihydronicotinamide dehydrogenase
                     [quinone] isoform 1"
                     /protein_id="NP_000895.2"
                     /db_xref="CCDS:CCDS4481.1"
                     /db_xref="GeneID:4835"
                     /db_xref="HGNC:HGNC:7856"
                     /db_xref="MIM:160998"
                     /translation="MAGKKVLIVYAHQEPKSFNGSLKNVAVDELSRQGCTVTVSDLYAM
                     NLEPRATDKDITGTLSNPEVFNYGVETHEAYKQRSLASDITDEQKKVREADLVIFQFPL
                     YWFSVPAILKGWMDRVLCQGFAFDIPGFYDSGLLQGKLALLSVTTGGTAEMYTKTGVNG
                     DSRYFLWPLQHGTLHFCGFKVLAPQISFAPEIASEEERKGMVAAWSQRLQTIWKEEPIP
                     CTAHWHFGQ"
     misc_feature    515..517
                     /gene="NQO2"
                     /gene_synonym="DHQV; DIA6; NMOR2; QR2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P16083.5); phosphorylation site"
     misc_feature    866..868
                     /gene="NQO2"
                     /gene_synonym="DHQV; DIA6; NMOR2; QR2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P16083.5); phosphorylation site"
     regulatory      1053..1058
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NQO2"
                     /gene_synonym="DHQV; DIA6; NMOR2; QR2"
                     /note="hexamer: AATAAA"
     polyA_site      1073
                     /gene="NQO2"
                     /gene_synonym="DHQV; DIA6; NMOR2; QR2"
                     /note="major polyA site"
ORIGIN
        1 gcaggttccg ggctgcttag gttggcaccg gtccgtggtc cccgggggcg cagtcgcagc
       61 gctcccgccc tccaggcgtc agcgagtgcg cggtccagtg cggccggaac ctggcgcaac
      121 tcctagagcg gtccttgggg agacgcgggt cccagtcctg cggctcctac tggggagtgc
      181 gctggtcgga agattgctgg actcgctgaa gagagactac gcaggaaagc cccagccacc
      241 catcaaatca gagagaagga atccaccttc ttacgctatg gcaggtaaga aagtactcat
      301 tgtctatgca caccaggaac ccaagtcttt caacggatcc ttgaagaatg tggctgtaga
      361 tgaactgagc aggcagggct gcaccgtcac agtgtctgat ttgtatgcca tgaaccttga
      421 gccgagggcc acagacaaag atatcactgg tactctttct aatcctgagg ttttcaatta
      481 tggagtggaa acccacgaag cctacaagca aaggtctctg gctagcgaca tcactgatga
      541 gcagaaaaag gttcgggagg ctgacctagt gatatttcag ttcccgctgt actggttcag
      601 cgtgccagcc atcctgaagg gctggatgga tagggtgctg tgccagggct ttgcctttga
      661 catcccagga ttctacgatt ccggtttgct ccagggtaaa ctagcgctcc tttccgtaac
      721 cacgggaggc acggccgaga tgtacacgaa gacaggagtc aatggagatt ctcgatactt
      781 cctgtggcca ctccagcatg gcacattaca cttctgtgga tttaaagtcc ttgcccctca
      841 gatcagcttt gctcctgaaa ttgcatccga agaagaaaga aaggggatgg tggctgcgtg
      901 gtcccagagg ctgcagacca tctggaagga agagcccatc ccctgcacag cccactggca
      961 cttcgggcaa taactctgtg gcacgtgggc atcacgtaag cagcacacta ggaggcccag
     1021 gcgcaggcaa agagaagatg gtgctgtcat gaaataaaat tacaacatag cta
//
LOCUS       NM_000905                555 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens neuropeptide Y (NPY), mRNA.
ACCESSION   NM_000905
VERSION     NM_000905.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 555)
  AUTHORS   Ivanov E, Akhmetshina M, Erdiakov A and Gavrilova S.
  TITLE     Sympathetic System in Wound Healing: Multistage Control in Normal
            and Diabetic Skin
  JOURNAL   Int J Mol Sci 24 (3), 2045 (2023)
   PUBMED   36768369
  REMARK    GeneRIF: Sympathetic System in Wound Healing: Multistage Control in
            Normal and Diabetic Skin. Review article Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 555)
  AUTHORS   Malva JO, Xapelli S, Baptista S, Valero J, Agasse F, Ferreira R and
            Silva AP.
  TITLE     Multifaces of neuropeptide Y in the brain--neuroprotection,
            neurogenesis and neuroinflammation
  JOURNAL   Neuropeptides 46 (6), 299-308 (2012)
   PUBMED   23116540
  REMARK    GeneRIF: In this review, we highlight recent evidences concerning
            paracrine/autocrine actions of NPY involved in neuroprotection,
            neurogenesis and neuroinflammation--{REVIEW}
REFERENCE   3  (bases 1 to 555)
  AUTHORS   Benarroch EE.
  TITLE     Neuropeptide Y: its multiple effects in the CNS and potential
            clinical significance
  JOURNAL   Neurology 72 (11), 1016-1020 (2009)
   PUBMED   19289742
  REMARK    GeneRIF: neuropeptide y is widely expressed in the nervous system
            and has been shown to have a role in numerous physiologic
            processes--{REVIEW} Review article
REFERENCE   4  (bases 1 to 555)
  AUTHORS   El Karim IA, Linden GJ, Orr DF and Lundy FT.
  TITLE     Antimicrobial activity of neuropeptides against a range of
            micro-organisms from skin, oral, respiratory and gastrointestinal
            tract sites
  JOURNAL   J Neuroimmunol 200 (1-2), 11-16 (2008)
   PUBMED   18603306
REFERENCE   5  (bases 1 to 555)
  AUTHORS   Gaszner B, Korosi A, Palkovits M, Roubos EW and Kozicz T.
  TITLE     Neuropeptide Y activates urocortin 1 neurons in the nonpreganglionic
            Edinger-Westphal nucleus
  JOURNAL   J Comp Neurol 500 (4), 708-719 (2007)
   PUBMED   17154253
  REMARK    GeneRIF: NPY, via NPY Y5 and to a lesser extent via the Y1
            receptors, exerts a stimulatory action on Ucn1 cells in the
            nonpreganglionic Edinger-Westphal nucleus.
REFERENCE   6  (bases 1 to 555)
  AUTHORS   Shimizu M, Shigeri Y, Tatsu Y, Yoshikawa S and Yumoto N.
  TITLE     Enhancement of antimicrobial activity of neuropeptide Y by
            N-terminal truncation
  JOURNAL   Antimicrob Agents Chemother 42 (10), 2745-2746 (1998)
   PUBMED   9756788
  REMARK    GeneRIF: Neuropeptide Y has fungicidal, antimicrobial activity
            against Candida albicans.
REFERENCE   7  (bases 1 to 555)
  AUTHORS   Monks SA, Karagianis G, Howlett GJ and Norton RS.
  TITLE     Solution structure of human neuropeptide Y
  JOURNAL   J Biomol NMR 8 (4), 379-390 (1996)
   PUBMED   9008359
REFERENCE   8  (bases 1 to 555)
  AUTHORS   Wan CP and Lau BH.
  TITLE     Neuropeptide Y receptor subtypes
  JOURNAL   Life Sci 56 (13), 1055-1064 (1995)
   PUBMED   9001438
  REMARK    Review article
REFERENCE   9  (bases 1 to 555)
  AUTHORS   Herzog H, Hort YJ, Ball HJ, Hayes G, Shine J and Selbie LA.
  TITLE     Cloned human neuropeptide Y receptor couples to two different second
            messenger systems
  JOURNAL   Proc Natl Acad Sci U S A 89 (13), 5794-5798 (1992)
   PUBMED   1321422
REFERENCE   10  (bases 1 to 555)
  AUTHORS   Minth,C.D., Andrews,P.C. and Dixon,J.E.
  TITLE     Characterization, sequence, and expression of the cloned human
            neuropeptide Y gene
  JOURNAL   J Biol Chem 261 (26), 11974-11979 (1986)
   PUBMED   2427515
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DA330523.1, BC029497.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000242152.7/ ENSP00000242152.2
            Protein has antimicrobial activity :: PMID: 9756788
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from K01911.1 and AI198311.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000905.3.
            Summary: This gene encodes a neuropeptide that is widely expressed
            in the central nervous system and influences many physiological
            processes, including cortical excitability, stress response, food
            intake, circadian rhythms, and cardiovascular function. The
            neuropeptide functions through G protein-coupled receptors to
            inhibit adenylyl cyclase, activate mitogen-activated protein kinase
            (MAPK), regulate intracellular calcium levels, and activate
            potassium channels. A polymorphism in this gene resulting in a
            change of leucine 7 to proline in the signal peptide is associated
            with elevated cholesterol levels, higher alcohol consumption, and
            may be a risk factor for various metabolic and cardiovascular
            diseases. The protein also exhibits antimicrobial activity against
            bacteria and fungi. [provided by RefSeq, Oct 2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..555
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.3"
     gene            1..555
                     /gene="NPY"
                     /gene_synonym="PYY4"
                     /note="neuropeptide Y"
                     /db_xref="GeneID:4852"
                     /db_xref="HGNC:HGNC:7955"
                     /db_xref="MIM:162640"
     misc_feature    1
                     /gene="NPY"
                     /gene_synonym="PYY4"
                     /note="major transcription initiation site"
     misc_feature    48..50
                     /gene="NPY"
                     /gene_synonym="PYY4"
                     /note="upstream in-frame stop codon"
     CDS             87..380
                     /gene="NPY"
                     /gene_synonym="PYY4"
                     /note="pro-neuropeptide Y; prepro-neuropeptide Y"
                     /codon_start=1
                     /product="pro-neuropeptide Y preproprotein"
                     /protein_id="NP_000896.1"
                     /db_xref="CCDS:CCDS5387.1"
                     /db_xref="GeneID:4852"
                     /db_xref="HGNC:HGNC:7955"
                     /db_xref="MIM:162640"
                     /translation="MLGNKRLGLSGLTLALSLLVCLGALAEAYPSKPDNPGEDAPAEDM
                     ARYYSALRHYINLITRQRYGKRSSPETLISDLLMRESTENVPRTRLEDPAMW"
     sig_peptide     87..170
                     /gene="NPY"
                     /gene_synonym="PYY4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     proprotein      171..377
                     /gene="NPY"
                     /gene_synonym="PYY4"
                     /product="pro-neuropeptide Y proprotein"
     mat_peptide     171..278
                     /gene="NPY"
                     /gene_synonym="PYY4"
                     /product="pro-neuropeptide Y"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     9756788]"
     regulatory      533..538
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPY"
                     /gene_synonym="PYY4"
                     /note="hexamer: AATAAA"
     polyA_site      555
                     /gene="NPY"
                     /gene_synonym="PYY4"
                     /note="major polyA site"
ORIGIN
        1 accccatccg ctggctctca cccctcggag acgctcgccc gacagcatag tacttgccgc
       61 ccagccacgc ccgcgcgcca gccaccatgc taggtaacaa gcgactgggg ctgtccggac
      121 tgaccctcgc cctgtccctg ctcgtgtgcc tgggtgcgct ggccgaggcg tacccctcca
      181 agccggacaa cccgggcgag gacgcaccag cggaggacat ggccagatac tactcggcgc
      241 tgcgacacta catcaacctc atcaccaggc agagatatgg aaaacgatcc agcccagaga
      301 cactgatttc agacctcttg atgagagaaa gcacagaaaa tgttcccaga actcggcttg
      361 aagaccctgc aatgtggtga tgggaaatga gacttgctct ctggcctttt cctattttca
      421 gcccatattt catcgtgtaa aacgagaatc cacccatcct accaatgcat gcagccactg
      481 tgctgaattc tgcaatgttt tcctttgtca tcattgtata tatgtgtgtt taaataaagt
      541 atcatgcatt caaaa
//
LOCUS       NM_000906               4185 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens natriuretic peptide receptor 1 (NPR1), mRNA.
ACCESSION   NM_000906
VERSION     NM_000906.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4185)
  AUTHORS   Sugioka S, Yamada H, Ishii A, Kato Y, Yamada R, Mori KP, Ohno S,
            Handa T, Ikushima A, Ishimura T, Osaki K, Tokudome T, Matsusaka T,
            Nebreda AR, Yanagita M and Yokoi H.
  TITLE     Dual deletion of guanylyl cyclase-A and p38 mitogen-activated
            protein kinase in podocytes with aldosterone administration causes
            glomerular intra-capillary thrombi
  JOURNAL   Kidney Int 104 (3), 508-525 (2023)
   PUBMED   37356621
  REMARK    GeneRIF: Dual deletion of guanylyl cyclase-A and p38
            mitogen-activated protein kinase in podocytes with aldosterone
            administration causes glomerular intra-capillary thrombi.
REFERENCE   2  (bases 1 to 4185)
  AUTHORS   Sangaralingham SJ, Whig K, Peddibhotla S, Kirby RJ, Sessions HE,
            Maloney PR, Hershberger PM, Mose-Yates H, Hood BL, Vasile S, Pan S,
            Zheng Y, Malany S and Burnett JC Jr.
  TITLE     Discovery of small molecule guanylyl cyclase A receptor positive
            allosteric modulators
  JOURNAL   Proc Natl Acad Sci U S A 118 (52) (2021)
   PUBMED   34930837
  REMARK    GeneRIF: Discovery of small molecule guanylyl cyclase A receptor
            positive allosteric modulators.
REFERENCE   3  (bases 1 to 4185)
  AUTHORS   Li Z, Fan H, Cao J, Sun G, Sen Wang, Lv J, Xuan Z, Xia Y, Wang L,
            Zhang D, Xu H and Xu Z.
  TITLE     Natriuretic peptide receptor a promotes gastric malignancy through
            angiogenesis process
  JOURNAL   Cell Death Dis 12 (11), 968 (2021)
   PUBMED   34671022
  REMARK    GeneRIF: Natriuretic peptide receptor a promotes gastric malignancy
            through angiogenesis process. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4185)
  AUTHORS   Mezzasoma L, Talesa VN, Romani R and Bellezza I.
  TITLE     ANP and BNP Exert Anti-Inflammatory Action via NPR-1/cGMP Axis by
            Interfering with Canonical, Non-Canonical, and Alternative Routes of
            Inflammasome Activation in Human THP1 Cells
  JOURNAL   Int J Mol Sci 22 (1), 24 (2020)
   PUBMED   33375031
  REMARK    GeneRIF: ANP and BNP Exert Anti-Inflammatory Action via NPR-1/cGMP
            Axis by Interfering with Canonical, Non-Canonical, and Alternative
            Routes of Inflammasome Activation in Human THP1 Cells. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 4185)
  AUTHORS   Vandenwijngaert S, Ledsky CD, Lahrouchi N, Khan MAF, Wunderer F,
            Ames L, Honda T, Diener JL, Bezzina CR, Buys ES, Bloch DB and
            Newton-Cheh C.
  CONSRTM   CHARGE+ Exome Chip Blood Pressure Consortium, the CHD Exome+
            Consortium, the Exome BP Consortium, the GoT2D Consortium, the
            T2D-GENES Consortium and the UK Biobank CardioMetabolic Consortium
            BP Working Group
  TITLE     Blood Pressure-Associated Genetic Variants in the Natriuretic
            Peptide Receptor 1 Gene Modulate Guanylate Cyclase Activity
  JOURNAL   Circ Genom Precis Med 12 (8), e002472 (2019)
   PUBMED   31430210
  REMARK    GeneRIF: The minor alleles of rs35479618 (p.E967K, gnomAD
            non-Finnish European allele frequency 0.017) and rs116245325
            (p.L1034F, allele frequency 0.0007) of NRP1 were associated with
            higher blood pressure. [Meta analysis]
REFERENCE   6  (bases 1 to 4185)
  AUTHORS   Suga S, Nakao K, Hosoda K, Mukoyama M, Ogawa Y, Shirakami G, Arai H,
            Saito Y, Kambayashi Y, Inouye K et al.
  TITLE     Receptor selectivity of natriuretic peptide family, atrial
            natriuretic peptide, brain natriuretic peptide, and C-type
            natriuretic peptide
  JOURNAL   Endocrinology 130 (1), 229-239 (1992)
   PUBMED   1309330
REFERENCE   7  (bases 1 to 4185)
  AUTHORS   Bennett BD, Bennett GL, Vitangcol RV, Jewett JR, Burnier J, Henzel W
            and Lowe DG.
  TITLE     Extracellular domain-IgG fusion proteins for three human natriuretic
            peptide receptors. Hormone pharmacology and application to solid
            phase screening of synthetic peptide antisera
  JOURNAL   J Biol Chem 266 (34), 23060-23067 (1991)
   PUBMED   1660465
REFERENCE   8  (bases 1 to 4185)
  AUTHORS   Koller KJ, Lowe DG, Bennett GL, Minamino N, Kangawa K, Matsuo H and
            Goeddel DV.
  TITLE     Selective activation of the B natriuretic peptide receptor by C-type
            natriuretic peptide (CNP)
  JOURNAL   Science 252 (5002), 120-123 (1991)
   PUBMED   1672777
REFERENCE   9  (bases 1 to 4185)
  AUTHORS   Lowe DG, Klisak I, Sparkes RS, Mohandas T and Goeddel DV.
  TITLE     Chromosomal distribution of three members of the human natriuretic
            peptide receptor/guanylyl cyclase gene family
  JOURNAL   Genomics 8 (2), 304-312 (1990)
   PUBMED   1979052
REFERENCE   10  (bases 1 to 4185)
  AUTHORS   Lowe DG, Chang MS, Hellmiss R, Chen E, Singh S, Garbers DL and
            Goeddel DV.
  TITLE     Human atrial natriuretic peptide receptor defines a new paradigm for
            second messenger signal transduction
  JOURNAL   EMBO J 8 (5), 1377-1384 (1989)
   PUBMED   2569967
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK025024.1, HM005333.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368680.4/ ENSP00000357669.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK025024.1.
            On Nov 22, 2018 this sequence version replaced NM_000906.3.
            Summary: Guanylyl cyclases, catalyzing the production of cGMP from
            GTP, are classified as soluble and membrane forms (Garbers and
            Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often
            termed guanylyl cyclases A through F, form a family of cell-surface
            receptors with a similar topographic structure: an extracellular
            ligand-binding domain, a single membrane-spanning domain, and an
            intracellular region that contains a protein kinase-like domain and
            a cyclase catalytic domain. GC-A and GC-B function as receptors for
            natriuretic peptides; they are also referred to as atrial
            natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM
            108961). Also see NPR3 (MIM 108962), which encodes a protein with
            only the ligand-binding transmembrane and 37-amino acid cytoplasmic
            domains. NPR1 is a membrane-bound guanylate cyclase that serves as
            the receptor for both atrial and brain natriuretic peptides (ANP
            (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM,
            May 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4185
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..4185
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="natriuretic peptide receptor 1"
                     /db_xref="GeneID:4881"
                     /db_xref="HGNC:HGNC:7943"
                     /db_xref="MIM:108960"
     misc_feature    1..4185
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="highly similar to HSAANP Human mRNA for natriuretic
                     peptide receptor (ANP-A receptor)"
     misc_feature    386..388
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="upstream in-frame stop codon"
     CDS             422..3607
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /EC_number="4.6.1.2"
                     /note="atrial natriuretic peptide receptor 1; natriuretic
                     peptide receptor A; guanylate cyclase A; natriuretic
                     peptide receptor A/guanylate cyclase A (atrionatriuretic
                     peptide receptor A); testicular tissue protein Li 20;
                     natriuretic peptide A type receptor; GC-A; ANP-A; NPR-A;
                     ANPR-A; atrial natriuretic peptide receptor type A"
                     /codon_start=1
                     /product="atrial natriuretic peptide receptor 1 precursor"
                     /protein_id="NP_000897.3"
                     /db_xref="CCDS:CCDS1051.1"
                     /db_xref="GeneID:4881"
                     /db_xref="HGNC:HGNC:7943"
                     /db_xref="MIM:108960"
                     /translation="MPGPRRPAGSRLRLLLLLLLPPLLLLLRGSHAGNLTVAVVLPLAN
                     TSYPWSWARVGPAVELALAQVKARPDLLPGWTVRTVLGSSENALGVCSDTAAPLAAVDL
                     KWEHNPAVFLGPGCVYAAAPVGRFTAHWRVPLLTAGAPALGFGVKDEYALTTRAGPSYA
                     KLGDFVAALHRRLGWERQALMLYAYRPGDEEHCFFLVEGLFMRVRDRLNITVDHLEFAE
                     DDLSHYTRLLRTMPRKGRVIYICSSPDAFRTLMLLALEAGLCGEDYVFFHLDIFGQSLQ
                     GGQGPAPRRPWERGDGQDVSARQAFQAAKIITYKDPDNPEYLEFLKQLKHLAYEQFNFT
                     MEDGLVNTIPASFHDGLLLYIQAVTETLAHGGTVTDGENITQRMWNRSFQGVTGYLKID
                     SSGDRETDFSLWDMDPENGAFRVVLNYNGTSQELVAVSGRKLNWPLGYPPPDIPKCGFD
                     NEDPACNQDHLSTLEVLALVGSLSLLGILIVSFFIYRKMQLEKELASELWRVRWEDVEP
                     SSLERHLRSAGSRLTLSGRGSNYGSLLTTEGQFQVFAKTAYYKGNLVAVKRVNRKRIEL
                     TRKVLFELKHMRDVQNEHLTRFVGACTDPPNICILTEYCPRGSLQDILENESITLDWMF
                     RYSLTNDIVKGMLFLHNGAICSHGNLKSSNCVVDGRFVLKITDYGLESFRDLDPEQGHT
                     VYAKKLWTAPELLRMASPPVRGSQAGDVYSFGIILQEIALRSGVFHVEGLDLSPKEIIE
                     RVTRGEQPPFRPSLALQSHLEELGLLMQRCWAEDPQERPPFQQIRLTLRKFNRENSSNI
                     LDNLLSRMEQYANNLEELVEERTQAYLEEKRKAEALLYQILPHSVAEQLKRGETVQAEA
                     FDSVTIYFSDIVGFTALSAESTPMQVVTLLNDLYTCFDAVIDNFDVYKVETIGDAYMVV
                     SGLPVRNGRLHACEVARMALALLDAVRSFRIRHRPQEQLRLRIGIHTGPVCAGVVGLKM
                     PRYCLFGDTVNTASRMESNGEALKIHLSSETKAVLEEFGGFELELRGDVEMKGKGKVRT
                     YWLLGERGSSTRG"
     sig_peptide     422..517
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    521..523
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16066.1); glycosylation site"
     misc_feature    554..556
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16066.1); glycosylation site"
     misc_feature    1055..1057
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16066.1); glycosylation site"
     misc_feature    1433..1435
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16066.1); glycosylation site"
     misc_feature    1556..1558
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16066.1); glycosylation site"
     misc_feature    1577..1579
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16066.1); glycosylation site"
     misc_feature    1700..1702
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16066.1); glycosylation site"
     misc_feature    1841..1903
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="propagated from UniProtKB/Swiss-Prot (P16066.1);
                     transmembrane region"
     misc_feature    1976..1978
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:20977274; propagated from
                     UniProtKB/Swiss-Prot (P16066.1); phosphorylation site"
     misc_feature    2006..2008
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:20977274; propagated from
                     UniProtKB/Swiss-Prot (P16066.1); phosphorylation site"
     misc_feature    2015..2017
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:20977274; propagated from
                     UniProtKB/Swiss-Prot (P16066.1); phosphorylation site"
     misc_feature    2021..2023
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:20977274; propagated from
                     UniProtKB/Swiss-Prot (P16066.1); phosphorylation site"
     misc_feature    2033..2035
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:20977274; propagated from
                     UniProtKB/Swiss-Prot (P16066.1); phosphorylation site"
     misc_feature    2045..2047
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P18910; propagated from
                     UniProtKB/Swiss-Prot (P16066.1); phosphorylation site"
     misc_feature    2054..2056
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P18910; propagated from
                     UniProtKB/Swiss-Prot (P16066.1); phosphorylation site"
     regulatory      4164..4169
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="hexamer: ATTAAA"
     polyA_site      4185
                     /gene="NPR1"
                     /gene_synonym="ANPa; ANPRA; GUC2A; GUCY2A; NPRA"
                     /note="major polyA site"
ORIGIN
        1 acactccctg gggcaggcgc tcacgcacgc tacaaacaca cactcctctt tcctccctcg
       61 cgcgccctct ctcatccttc ttcacgaagc gctcactcgc accctttctc tctctctctc
      121 tctctctcta acacgcacgc acactcccag ttgttcacac tcgggtcctc tccagcccga
      181 cgttctcctg gcacccacct gctccgcggc gccctgcgcg cccccctcgg tcgcgcccct
      241 tgcgctctcg gcccagaccg tcgcagctac agggggcctc gagccccggg gtgagcgtcc
      301 ccgtcccgct cctgctcctt cccataggga cgcgcctgat gcctgggacc ggccgctgag
      361 cccaagggga ccgaggaggc catggtagga gcgctcgcct gctgcggtgc ccgctgaggc
      421 catgccgggg ccccggcgcc ccgctggctc ccgcctgcgc ctgctcctgc tcctgctgct
      481 gccgccgctg ctgctgctgc tccggggcag ccacgcgggc aacctgacgg tagccgtggt
      541 actgccgctg gccaatacct cgtacccctg gtcgtgggcg cgcgtgggac ccgccgtgga
      601 gctggccctg gcccaggtga aggcgcgccc cgacttgctg ccgggctgga cggtccgcac
      661 ggtgctgggc agcagcgaaa acgcgctggg cgtctgctcc gacaccgcag cgcccctggc
      721 cgcggtggac ctcaagtggg agcacaaccc cgctgtgttc ctgggccccg gctgcgtgta
      781 cgccgccgcc ccagtggggc gcttcaccgc gcactggcgg gtcccgctgc tgaccgccgg
      841 cgccccggcg ctgggcttcg gtgtcaagga cgagtatgcg ctgaccaccc gcgcggggcc
      901 cagctacgcc aagctggggg acttcgtggc ggcgctgcac cgacggctgg gctgggagcg
      961 ccaagcgctc atgctctacg cctaccggcc gggtgacgaa gagcactgct tcttcctcgt
     1021 ggaggggctg ttcatgcggg tccgcgaccg cctcaatatt acggtggacc acctggagtt
     1081 cgccgaggac gacctcagcc actacaccag gctgctgcgg accatgccgc gcaaaggccg
     1141 agttatctac atctgcagct cccctgatgc cttcagaacc ctcatgctcc tggccctgga
     1201 agctggcttg tgtggggagg actacgtttt cttccacctg gatatctttg ggcaaagcct
     1261 gcaaggtgga cagggccctg ctccccgcag gccctgggag agaggggatg ggcaggatgt
     1321 cagtgcccgc caggcctttc aggctgccaa aatcattaca tataaagacc cagataatcc
     1381 cgagtacttg gaattcctga agcagttaaa acacctggcc tatgagcagt tcaacttcac
     1441 catggaggat ggcctggtga acaccatccc agcatccttc cacgacgggc tcctgctcta
     1501 tatccaggca gtgacggaga ctctggcaca tgggggaact gttactgatg gggagaacat
     1561 cactcagcgg atgtggaacc gaagctttca aggtgtgaca ggatacctga aaattgatag
     1621 cagtggcgat cgggaaacag acttctccct ctgggatatg gatcccgaga atggtgcctt
     1681 cagggttgta ctgaactaca atgggacttc ccaagagctg gtggctgtgt cggggcgcaa
     1741 actgaactgg cccctggggt accctcctcc tgacatcccc aaatgtggct ttgacaacga
     1801 agacccagca tgcaaccaag atcacctttc caccctggag gtgctggctt tggtgggcag
     1861 cctctccttg ctcggcattc tgattgtctc cttcttcata tacaggaaga tgcagctgga
     1921 gaaggaactg gcctcggagc tgtggcgggt gcgctgggag gacgttgagc ccagtagcct
     1981 tgagaggcac ctgcggagtg caggcagccg gctgaccctg agcgggagag gctccaatta
     2041 cggctccctg ctaaccacag agggccagtt ccaagtcttt gccaagacag catattataa
     2101 gggcaacctc gtggctgtga aacgtgtgaa ccgtaaacgc attgagctga cacgaaaagt
     2161 cctgtttgaa ctgaagcata tgcgggatgt gcagaatgaa cacctgacca ggtttgtggg
     2221 agcctgcacc gaccccccca atatctgcat cctcacagag tactgtcccc gtgggagcct
     2281 gcaggacatt ctggagaatg agagcatcac cctggactgg atgttccggt actcactcac
     2341 caatgacatc gtcaagggca tgctgtttct acacaatggg gctatctgtt cccatgggaa
     2401 cctcaagtca tccaactgcg tggtagatgg gcgctttgtg ctcaagatca ccgactatgg
     2461 gctggagagc ttcagggacc tggacccaga gcaaggacac accgtttatg ccaaaaagct
     2521 gtggacggcc cctgagctcc tgcgaatggc ttcaccccct gtgcggggct cccaggctgg
     2581 tgacgtatac agctttggga tcatccttca ggagattgcc ctgaggagtg gggtcttcca
     2641 cgtggaaggt ttggacctga gccccaaaga gatcatcgag cgggtgactc ggggtgagca
     2701 gccccccttc cggccctccc tggccctgca gagtcacctg gaggagttgg ggctgctcat
     2761 gcagcggtgc tgggctgagg acccacagga gaggccacca ttccagcaga tccgcctgac
     2821 gttgcgcaaa tttaacaggg agaacagcag caacatcctg gacaacctgc tgtcccgcat
     2881 ggagcagtac gcgaacaatc tggaggaact ggtggaggag cggacccagg catacctgga
     2941 ggagaagcgc aaggctgagg ccctgctcta ccagatcctg cctcactcag tggctgagca
     3001 gctgaagcgt ggggagacgg tgcaggccga agcctttgac agtgttacca tctacttcag
     3061 tgacattgtg ggtttcacag cgctgtcggc ggagagcaca cccatgcagg tggtgaccct
     3121 gctcaatgac ctgtacactt gctttgatgc tgtcatagac aactttgatg tgtacaaggt
     3181 ggagacaatt ggcgatgcct acatggtggt gtcagggctc cctgtgcgga acgggcggct
     3241 acacgcctgc gaggtagccc gcatggccct ggcactgctg gatgctgtgc gctccttccg
     3301 aatccgccac cggccccagg agcagctgcg cttgcgcatt ggcatccaca caggacctgt
     3361 gtgtgctgga gtggtgggac tgaagatgcc ccgttactgt ctctttgggg atacagtcaa
     3421 cacagcctca agaatggagt ctaatgggga agccctgaag atccacttgt cttctgagac
     3481 caaggctgtc ctggaggagt ttggtggttt cgagctggag cttcgagggg atgtagaaat
     3541 gaagggcaaa ggcaaggttc ggacctactg gctccttggg gagaggggga gtagcacccg
     3601 aggctgacct gcctcctctc ctatccctcc acacctccct accctgtgcc agaagcaaca
     3661 gaggtgccag gcctcagcct cacccacagc agccccatcg ccaaaggatg gaagtaattt
     3721 gaatagctca ggtgtgctga ccccagtgaa gacaccagat aggacctctg agaggggact
     3781 ggcatggggg gatctcagag cttacaggct gagccaagcc cacggccatg cacagggaca
     3841 ctcacacagg cacacgcacc tgctctccac ctggactcag gccgggctgg gctgtggatt
     3901 cctgatcccc tcccctcccc atgctctcct ccctcagcct tgctaccctg tgacttactg
     3961 ggaggagaaa gagtcacctg aaggggaaca tgaaaagaga ctaggtgaag agagggcagg
     4021 ggagcccaca tctggggctg gcccacaata cctgctcccc cgaccccctc cacccagcag
     4081 tagacacagt gcacagggga gaagaggggt ggcgcagaag ggttgggggc ctgtatgcct
     4141 tgcttctacc atgagcagag acaattaaaa tctttattcc agtga
//
LOCUS       NM_000909               2762 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.
ACCESSION   NM_000909
VERSION     NM_000909.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2762)
  AUTHORS   Feng X, Ding Y, Zhou M, Song N and Ding Y.
  TITLE     Integrative Analysis of Exosomal miR-452 and miR-4713 Downregulating
            NPY1R for the Prevention of Childhood Obesity
  JOURNAL   Dis Markers 2022, 2843353 (2022)
   PUBMED   35401881
  REMARK    GeneRIF: Integrative Analysis of Exosomal miR-452 and miR-4713
            Downregulating NPY1R for the Prevention of Childhood Obesity.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2762)
  AUTHORS   Medeiros PJ, Pascetta SA, Kirsh SM, Al-Khazraji BK and Uniacke J.
  TITLE     Expression of hypoxia inducible factor-dependent neuropeptide Y
            receptors Y1 and Y5 sensitizes hypoxic cells to NPY stimulation
  JOURNAL   J Biol Chem 298 (3), 101645 (2022)
   PUBMED   35093384
  REMARK    GeneRIF: Expression of hypoxia inducible factor-dependent
            neuropeptide Y receptors Y1 and Y5 sensitizes hypoxic cells to NPY
            stimulation.
REFERENCE   3  (bases 1 to 2762)
  AUTHORS   Park C, Kim J, Ko SB, Choi YK, Jeong H, Woo H, Kang H, Bang I, Kim
            SA, Yoon TY, Seok C, Im W and Choi HJ.
  TITLE     Structural basis of neuropeptide Y signaling through Y1 receptor
  JOURNAL   Nat Commun 13 (1), 853 (2022)
   PUBMED   35165283
  REMARK    GeneRIF: Structural basis of neuropeptide Y signaling through Y1
            receptor. Erratum:[Nat Commun. 2022 Feb 25;13(1):1126. PMID:
            35217654] Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2762)
  AUTHORS   Bhat R, Thangavel H, Abdulkareem NM, Vasaikar S, De Angelis C, Bae
            L, Cataldo ML, Nanda S, Fu X, Zhang B, Schiff R and Trivedi MV.
  TITLE     NPY1R exerts inhibitory action on estradiol-stimulated growth and
            predicts endocrine sensitivity and better survival in ER-positive
            breast cancer
  JOURNAL   Sci Rep 12 (1), 1972 (2022)
   PUBMED   35121782
  REMARK    GeneRIF: NPY1R exerts inhibitory action on estradiol-stimulated
            growth and predicts endocrine sensitivity and better survival in
            ER-positive breast cancer. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2762)
  AUTHORS   Winning L, El Karim IA, Linden GJ, Irwin CR, Killough SA and Lundy
            FT.
  TITLE     Differential regulation of NPY and SP receptor expression in
            STRO-1+ve PDLSCs by inflammatory cytokines
  JOURNAL   J Periodontal Res 57 (1), 186-194 (2022)
   PUBMED   34773642
  REMARK    GeneRIF: Differential regulation of NPY and SP receptor expression
            in STRO-1+ve PDLSCs by inflammatory cytokines.
REFERENCE   6  (bases 1 to 2762)
  AUTHORS   Rose PM, Fernandes P, Lynch JS, Frazier ST, Fisher SM, Kodukula K,
            Kienzle B and Seethala R.
  TITLE     Cloning and functional expression of a cDNA encoding a human type 2
            neuropeptide Y receptor
  JOURNAL   J Biol Chem 270 (39), 22661-22664 (1995)
   PUBMED   7559383
  REMARK    Erratum:[J Biol Chem. 1995 Dec 1;270(48):29038. PMID: 7499438]
REFERENCE   7  (bases 1 to 2762)
  AUTHORS   Herzog H, Baumgartner M, Vivero C, Selbie LA, Auer B and Shine J.
  TITLE     Genomic organization, localization, and allelic differences in the
            gene for the human neuropeptide Y Y1 receptor
  JOURNAL   J Biol Chem 268 (9), 6703-6707 (1993)
   PUBMED   8095935
REFERENCE   8  (bases 1 to 2762)
  AUTHORS   Herzog H, Hort YJ, Ball HJ, Hayes G, Shine J and Selbie LA.
  TITLE     Cloned human neuropeptide Y receptor couples to two different second
            messenger systems
  JOURNAL   Proc Natl Acad Sci U S A 89 (13), 5794-5798 (1992)
   PUBMED   1321422
REFERENCE   9  (bases 1 to 2762)
  AUTHORS   Larhammar D, Blomqvist AG, Yee F, Jazin E, Yoo H and Wahlested C.
  TITLE     Cloning and functional expression of a human neuropeptide Y/peptide
            YY receptor of the Y1 type
  JOURNAL   J Biol Chem 267 (16), 10935-10938 (1992)
   PUBMED   1317848
REFERENCE   10  (bases 1 to 2762)
  AUTHORS   Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M and Kaziro Y.
  TITLE     Presence of three distinct molecular species of Gi protein alpha
            subunit. Structure of rat cDNAs and human genomic DNAs
  JOURNAL   J Biol Chem 263 (14), 6656-6664 (1988)
   PUBMED   2834384
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC036657.2, SRR1803611.106369.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467144
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000296533.3/ ENSP00000354652.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC036657.2 and AC079238.7.
            On Nov 23, 2018 this sequence version replaced NM_000909.5.
            Summary: This gene belongs to the G-protein-coupled receptor
            superfamily. The encoded transmembrane protein mediates the
            function of neuropeptide Y (NPY), a neurotransmitter, and peptide
            YY (PYY), a gastrointestinal hormone. The encoded receptor
            undergoes fast agonist-induced internalization through
            clathrin-coated pits and is subsequently recycled back to the cell
            membrane. Activation of Y1 receptors may result in mobilization of
            intracellular calcium and inhibition of adenylate cyclase activity.
            [provided by RefSeq, Aug 2013].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2762
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.2"
     gene            1..2762
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /note="neuropeptide Y receptor Y1"
                     /db_xref="GeneID:4886"
                     /db_xref="HGNC:HGNC:7956"
                     /db_xref="MIM:162641"
     misc_feature    240..242
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /note="upstream in-frame stop codon"
     CDS             267..1421
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /codon_start=1
                     /product="neuropeptide Y receptor type 1"
                     /protein_id="NP_000900.1"
                     /db_xref="CCDS:CCDS34089.1"
                     /db_xref="GeneID:4886"
                     /db_xref="HGNC:HGNC:7956"
                     /db_xref="MIM:162641"
                     /translation="MNSTLFSQVENHSVHSNFSEKNAQLLAFENDDCHLPLAMIFTLAL
                     AYGAVIILGVSGNLALIIIILKQKEMRNVTNILIVNLSFSDLLVAIMCLPFTFVYTLMD
                     HWVFGEAMCKLNPFVQCVSITVSIFSLVLIAVERHQLIINPRGWRPNNRHAYVGIAVIW
                     VLAVASSLPFLIYQVMTDEPFQNVTLDAYKDKYVCFDQFPSDSHRLSYTTLLLVLQYFG
                     PLCFIFICYFKIYIRLKRRNNMMDKMRDNKYRSSETKRINIMLLSIVVAFAVCWLPLTI
                     FNTVFDWNHQIIATCNHNLLFLLCHLTAMISTCVNPIFYGFLNKNFQRDLQFFFNFCDF
                     RSRDDDYETIAMSTMHTDVSKTSLKQASPVAFKKINNNDDNEKI"
     misc_feature    270..272
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P25929.1); glycosylation site"
     misc_feature    297..299
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P25929.1); glycosylation site"
     misc_feature    315..317
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P25929.1); glycosylation site"
     misc_feature    399..461
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /note="propagated from UniProtKB/Swiss-Prot (P25929.1);
                     transmembrane region"
     misc_feature    495..557
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /note="propagated from UniProtKB/Swiss-Prot (P25929.1);
                     transmembrane region"
     misc_feature    615..677
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /note="propagated from UniProtKB/Swiss-Prot (P25929.1);
                     transmembrane region"
     misc_feature    729..791
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /note="propagated from UniProtKB/Swiss-Prot (P25929.1);
                     transmembrane region"
     misc_feature    900..962
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /note="propagated from UniProtKB/Swiss-Prot (P25929.1);
                     transmembrane region"
     misc_feature    1047..1109
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /note="propagated from UniProtKB/Swiss-Prot (P25929.1);
                     transmembrane region"
     misc_feature    1164..1226
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /note="propagated from UniProtKB/Swiss-Prot (P25929.1);
                     transmembrane region"
     misc_feature    1368..1370
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P21555; propagated from
                     UniProtKB/Swiss-Prot (P25929.1); phosphorylation site"
     regulatory      1681..1686
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /note="hexamer: TATAAA"
     polyA_site      1701
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
     regulatory      2731..2736
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /note="hexamer: ATTAAA"
     polyA_site      2762
                     /gene="NPY1R"
                     /gene_synonym="NPY1-R; NPYR"
                     /note="major polyA site"
ORIGIN
        1 aatctttagg atctgagcag gagaaatacc agcggatctt ccccactctg ctcccttcca
       61 ttcccaccct tccttcttta ataagcagga gcgaaaaaga caaattccaa agaggattgt
      121 tcagttcaag ggaatgaaga attcagaata attttggtaa atggattcca atatggggaa
      181 taagaataag ctgaacagtt gacctgcttt gaagaaacat actgtccatt tgtctaaaat
      241 aatctataac aaccaaacca atcaaaatga attcaacatt attttcccag gttgaaaatc
      301 attcagtcca ctctaatttc tcagagaaga atgcccagct tctggctttt gaaaatgatg
      361 attgtcatct gcccttggcc atgatattta ccttagctct tgcttatgga gctgtgatca
      421 ttcttggtgt ctctggaaac ctggccttga tcataatcat cttgaaacaa aaggagatga
      481 gaaatgttac caacatcctg attgtgaacc tttccttctc agacttgctt gttgccatca
      541 tgtgtctccc ctttacattt gtctacacat taatggacca ctgggtcttt ggtgaggcga
      601 tgtgtaagtt gaatcctttt gtgcaatgtg tttcaatcac tgtgtccatt ttctctctgg
      661 ttctcattgc tgtggaacga catcagctga taatcaaccc tcgagggtgg agaccaaata
      721 atagacatgc ttatgtaggt attgctgtga tttgggtcct tgctgtggct tcttctttgc
      781 ctttcctgat ctaccaagta atgactgatg agccgttcca aaatgtaaca cttgatgcgt
      841 acaaagacaa atacgtgtgc tttgatcaat ttccatcgga ctctcatagg ttgtcttata
      901 ccactctcct cttggtgctg cagtattttg gtccactttg ttttatattt atttgctact
      961 tcaagatata tatacgccta aaaaggagaa acaacatgat ggacaagatg agagacaata
     1021 agtacaggtc cagtgaaacc aaaagaatca atatcatgct gctctccatt gtggtagcat
     1081 ttgcagtctg ctggctccct cttaccatct ttaacactgt gtttgattgg aatcatcaga
     1141 tcattgctac ctgcaaccac aatctgttat tcctgctctg ccacctcaca gcaatgatat
     1201 ccacttgtgt caaccccata ttttatgggt tcctgaacaa aaacttccag agagacttgc
     1261 agttcttctt caacttttgt gatttccggt ctcgggatga tgattatgaa acaatagcca
     1321 tgtccacgat gcacacagat gtttccaaaa cttctttgaa gcaagcaagc ccagtcgcat
     1381 ttaaaaaaat caacaacaat gatgataatg aaaaaatctg aaactactta tagcctatgg
     1441 tcccggatga catctgttta aaaacaagca caacctgcaa catactttga ttacctgttc
     1501 tcccaaggaa tggggttgaa atcatttgaa aatgactaag attttcttgt cttgcttttt
     1561 actgcttttg ttgtagttgt cataattaca tttggaacaa aaggtgtggg ctttggggtc
     1621 ttctggaaat agttttgacc agacatcttt gaagtgcttt ttgtgaattt atgcatataa
     1681 tataaagact tttatactgt acttattgga atgaaatttc tttaaagtat tactattaac
     1741 tgacttcaga agtacctgcc atccaatacg gtcattagat tgggtcatct tgattagatt
     1801 agattagatt agattgtcaa cagattgggc catccttact ttatgatagg catcatttta
     1861 gtgtgttaca atagtaacag tatgcaaaag cagcattcag gagccgaaag atagtctgaa
     1921 gtcattcaga agtggtttga ggtttctgtt ttttggtggt ttttgtttgt tttttttttt
     1981 tttcacctta agggaggatt taatttgctc ccaactgatt gtcacttaaa tgaaaattta
     2041 aaaatgaata aaaagacata cttctcagct gcaaatatta tggagaattg gggcacccac
     2101 aggaatgaag agagaaagca gctccctaac ttcaaaacca ttttggtacc tgacaacaag
     2161 agcattttag agtaattaat ttaataaagt aaattagtat tgctgcaaat agttaaatta
     2221 tatttatttg aattgatggt caagagattt tccatttttt ttacagactg ttcagtgttt
     2281 gtcaagcttt ctggcataaa tatgtactca aaaggcattt ccgcttacaa tttgtagaaa
     2341 cacaaaatgc gttttccata cagcagtgcc tatatagtga ctgattttta actttcaatg
     2401 tccatctttc aaaggaagta acaccaaggt acaatgttaa aggaatattc actttaccta
     2461 gcagggaaaa atacacaaaa actgcagata cttcatatag cccattttaa cttgtataaa
     2521 ctgtgtgact tgtggcgtct tataaataat gcactgtaaa gattactgaa tagttgtgtc
     2581 atgttaatgt gcctaatttc atgtatcttg taatcatgat tgagcctcag aatcatttgg
     2641 agaaactata ttttaaagaa caagacatac ttcaatgtat tatacagata aagtattaca
     2701 tgtgtttgat tttaaaaggg cggacatttt attaaaatca atattgtttt tgctttttct
     2761 ga
//
LOCUS       NM_000910               3619 bp    mRNA    linear   PRI 22-JAN-2023
DEFINITION  Homo sapiens neuropeptide Y receptor Y2 (NPY2R), transcript variant
            1, mRNA.
ACCESSION   NM_000910
VERSION     NM_000910.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3619)
  AUTHORS   Kang H, Park C, Choi YK, Bae J, Kwon S, Kim J, Choi C, Seok C, Im W
            and Choi HJ.
  TITLE     Structural basis for Y2 receptor-mediated neuropeptide Y and peptide
            YY signaling
  JOURNAL   Structure 31 (1), 44-57 (2023)
   PUBMED   36525977
  REMARK    GeneRIF: Structural basis for Y2 receptor-mediated neuropeptide Y
            and peptide YY signaling.
REFERENCE   2  (bases 1 to 3619)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3619)
  AUTHORS   Wickham J, Ledri M, Bengzon J, Jespersen B, Pinborg LH, Englund E,
            Woldbye DPD, Andersson M and Kokaia M.
  TITLE     Inhibition of epileptiform activity by neuropeptide Y in brain
            tissue from drug-resistant temporal lobe epilepsy patients
  JOURNAL   Sci Rep 9 (1), 19393 (2019)
   PUBMED   31852985
  REMARK    GeneRIF: Inhibition of epileptiform activity by neuropeptide Y in
            brain tissue from drug-resistant temporal lobe epilepsy patients.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3619)
  AUTHORS   Derkac I, Januleviciene I, Sepetiene R, Valiauga R and Velickiene D.
  TITLE     The Association of CEP135 rs4865047 and NPY2R rs1902491 Single
            Nucleotide Polymorphisms (SNPs) with Rapid Progression of
            Proliferative Diabetic Retinopathy in Patients with Type 1 Diabetes
            Mellitus
  JOURNAL   Med Sci Monit 24, 8891-8898 (2018)
   PUBMED   30531682
  REMARK    GeneRIF: The analysis of the distribution of genotypes in CEP135
            rs4865047 and NPY2R rs1902491 detected significant differences only
            in the single nucleotide polymorphism rs4865047 genotype between the
            case and control group in comparison to the reference group. No
            significant association was found for the NPY2R SNP rs1902491
            genotype. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3619)
  AUTHORS   Aerts E, Geets E, Sorber L, Beckers S, Verrijken A, Massa G, Van
            Hoorenbeeck K, Verhulst SL, Van Gaal LF and Van Hul W.
  TITLE     Evaluation of a Role for NPY and NPY2R in the Pathogenesis of
            Obesity by Mutation and Copy Number Variation Analysis in Obese
            Children and Adolescents
  JOURNAL   Ann Hum Genet 82 (1), 1-10 (2018)
   PUBMED   28857123
  REMARK    GeneRIF: genetic variation in NPY and NPY2R is at low frequency and
            thus does not make a major contribution to the obese phenotype in
            the general population
REFERENCE   6  (bases 1 to 3619)
  AUTHORS   Gerald C, Walker MW, Vaysse PJ, He C, Branchek TA and Weinshank RL.
  TITLE     Expression cloning and pharmacological characterization of a human
            hippocampal neuropeptide Y/peptide YY Y2 receptor subtype
  JOURNAL   J Biol Chem 270 (45), 26758-26761 (1995)
   PUBMED   7592910
REFERENCE   7  (bases 1 to 3619)
  AUTHORS   Rose PM, Fernandes P, Lynch JS, Frazier ST, Fisher SM, Kodukula K,
            Kienzle B and Seethala R.
  TITLE     Cloning and functional expression of a cDNA encoding a human type 2
            neuropeptide Y receptor
  JOURNAL   J Biol Chem 270 (39), 22661-22664 (1995)
   PUBMED   7559383
  REMARK    Erratum:[J Biol Chem. 1995 Dec 1;270(48):29038. PMID: 7499438]
REFERENCE   8  (bases 1 to 3619)
  AUTHORS   Lynch JW, Lemos VS, Bucher B, Stoclet JC and Takeda K.
  TITLE     A pertussis toxin-insensitive calcium influx mediated by
            neuropeptide Y2 receptors in a human neuroblastoma cell line
  JOURNAL   J Biol Chem 269 (11), 8226-8233 (1994)
   PUBMED   8132547
REFERENCE   9  (bases 1 to 3619)
  AUTHORS   Herzog H, Hort YJ, Ball HJ, Hayes G, Shine J and Selbie LA.
  TITLE     Cloned human neuropeptide Y receptor couples to two different second
            messenger systems
  JOURNAL   Proc Natl Acad Sci U S A 89 (13), 5794-5798 (1992)
   PUBMED   1321422
REFERENCE   10  (bases 1 to 3619)
  AUTHORS   Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M and Kaziro Y.
  TITLE     Presence of three distinct molecular species of Gi protein alpha
            subunit. Structure of rat cDNAs and human genomic DNAs
  JOURNAL   J Biol Chem 263 (14), 6656-6664 (1988)
   PUBMED   2834384
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U42766.1, SRR1803612.265344.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148093,
            SAMEA2151119 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000329476.4/ ENSP00000332591.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            U42766.1 and U36269.1.
            On Nov 23, 2018 this sequence version replaced NM_000910.3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3619
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.1"
     gene            1..3619
                     /gene="NPY2R"
                     /gene_synonym="NPY2-R"
                     /note="neuropeptide Y receptor Y2"
                     /db_xref="GeneID:4887"
                     /db_xref="HGNC:HGNC:7957"
                     /db_xref="MIM:162642"
     misc_feature    366..368
                     /gene="NPY2R"
                     /gene_synonym="NPY2-R"
                     /note="upstream in-frame stop codon"
     CDS             483..1628
                     /gene="NPY2R"
                     /gene_synonym="NPY2-R"
                     /note="NPY-Y2 receptor"
                     /codon_start=1
                     /product="neuropeptide Y receptor type 2"
                     /protein_id="NP_000901.1"
                     /db_xref="CCDS:CCDS3791.1"
                     /db_xref="GeneID:4887"
                     /db_xref="HGNC:HGNC:7957"
                     /db_xref="MIM:162642"
                     /translation="MGPIGAEADENQTVEEMKVEQYGPQTTPRGELVPDPEPELIDSTK
                     LIEVQVVLILAYCSIILLGVIGNSLVIHVVIKFKSMRTVTNFFIANLAVADLLVNTLCL
                     PFTLTYTLMGEWKMGPVLCHLVPYAQGLAVQVSTITLTVIALDRHRCIVYHLESKISKR
                     ISFLIIGLAWGISALLASPLAIFREYSLIEIIPDFEIVACTEKWPGEEKSIYGTVYSLS
                     SLLILYVLPLGIISFSYTRIWSKLKNHVSPGAANDHYHQRRQKTTKMLVCVVVVFAVSW
                     LPLHAFQLAVDIDSQVLDLKEYKLIFTVFHIIAMCSTFANPLLYGWMNSNYRKAFLSAF
                     RCEQRLDAIHSEVSVTFKAKKNLEVRKNSGPNDSFTEATNV"
     misc_feature    483..587
                     /gene="NPY2R"
                     /gene_synonym="NPY2-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P49146.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    513..515
                     /gene="NPY2R"
                     /gene_synonym="NPY2-R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P49146.1); glycosylation site"
     misc_feature    636..698
                     /gene="NPY2R"
                     /gene_synonym="NPY2-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P49146.1);
                     transmembrane region"
     misc_feature    741..803
                     /gene="NPY2R"
                     /gene_synonym="NPY2-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P49146.1);
                     transmembrane region"
     misc_feature    855..917
                     /gene="NPY2R"
                     /gene_synonym="NPY2-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P49146.1);
                     transmembrane region"
     misc_feature    978..1040
                     /gene="NPY2R"
                     /gene_synonym="NPY2-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P49146.1);
                     transmembrane region"
     misc_feature    1131..1193
                     /gene="NPY2R"
                     /gene_synonym="NPY2-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P49146.1);
                     transmembrane region"
     misc_feature    1287..1349
                     /gene="NPY2R"
                     /gene_synonym="NPY2-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P49146.1);
                     transmembrane region"
     misc_feature    1395..1457
                     /gene="NPY2R"
                     /gene_synonym="NPY2-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P49146.1);
                     transmembrane region"
     regulatory      3599..3604
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPY2R"
                     /gene_synonym="NPY2-R"
                     /note="hexamer: ATTAAA"
     polyA_site      3619
                     /gene="NPY2R"
                     /gene_synonym="NPY2-R"
                     /note="major polyA site"
ORIGIN
        1 gagagaccct ggacactgtt cctgctccct cgccaccaaa acttctcctc cagtcccctc
       61 ccctgcagga ccatcgcccg cagcctctgc acctgttttc ttgtgtttaa gggtggggtt
      121 tgcccccctc cccacgctcc catctctgat cctcccacct tcacccgccc accccgcgag
      181 tgagtgcggt gcccaggcgc gcttggcctg agaggtcggc agcagacccg gcagcgccaa
      241 ccgcccagcc gctctgactg ctccggctgc ccgcccgcgc ggcgcgggct gtcctggacc
      301 ctaggagggg acggaaccgg acttgccttt gggcaccttc cagggccctc tccaggtcgg
      361 ctggctaatc atcggacaga cggactgcac acatcttgtt tccgcgtctc cgcaaaaacg
      421 cgaggtccag gtcagttgta gactcttgtg ctggttgcag gccaagtgga cctgtactga
      481 aaatgggtcc aataggtgca gaggctgatg agaaccagac agtggaagaa atgaaggtgg
      541 aacaatacgg gccacaaaca actcctagag gtgaactggt ccctgaccct gagccagagc
      601 ttatagatag taccaagctg attgaggtac aagttgttct catattggcc tactgctcca
      661 tcatcttgct tggggtaatt ggcaactcct tggtgatcca tgtggtgatc aaattcaaga
      721 gcatgcgcac agtaaccaac tttttcattg ccaatctggc tgtggcagat cttttggtga
      781 acactctgtg tctaccgttc actcttacct ataccttaat gggggagtgg aaaatgggtc
      841 ctgtcctgtg ccacctggtg ccctatgccc agggcctggc agtacaagta tccacaatca
      901 ccttgacagt aattgccctg gaccggcaca ggtgcatcgt ctaccaccta gagagcaaga
      961 tctccaagcg aatcagcttc ctgattattg gcttggcctg gggcatcagt gccctgctgg
     1021 caagtcccct ggccatcttc cgggagtatt cgctgattga gatcatcccg gactttgaga
     1081 ttgtggcctg tactgaaaag tggcctggcg aggagaagag catctatggc actgtctata
     1141 gtctttcttc cttgttgatc ttgtatgttt tgcctctggg cattatatca ttttcctaca
     1201 ctcgcatttg gagtaaattg aagaaccatg tcagtcctgg agctgcaaat gaccactacc
     1261 atcagcgaag gcaaaaaacc accaaaatgc tggtgtgtgt ggtggtggtg tttgcggtca
     1321 gctggctgcc tctccatgcc ttccagcttg ccgttgacat tgacagccag gtcctggacc
     1381 tgaaggagta caaactcatc ttcacagtgt tccacatcat cgccatgtgc tccacttttg
     1441 ccaatcccct tctctatggc tggatgaaca gcaactacag aaaggctttc ctctcggcct
     1501 tccgctgtga gcagcggttg gatgccattc actctgaggt gtccgtgaca ttcaaggcta
     1561 aaaagaacct ggaggtcaga aagaacagtg gccccaatga ctctttcaca gaggctacca
     1621 atgtctaagg aagctgtggt gtgaaaatgt atggatgaat tctgaccaga gctatgaatc
     1681 tggttgatgg cggctcacaa gtgaaaactg atttcccatt ttaaagaaga agtggatcta
     1741 aatggaagca tctgctgttt aattcctgga aaactggctg ggcagagcct gtgtgaaaat
     1801 actggaattc aaagataagg caacaaaatg gtttacttaa cagttggttg ggtagtaggt
     1861 tgcattatga gtaaaagcag agagaagtac ttttgattat tttcctggag tgaagaaaac
     1921 ttgaacaaga aattggtatt atcaaagcat tgctgagaga cggtgggaaa ataagttgac
     1981 tttcaaatca cgttaggacc tggattgagg aggtgtgcag ttcgctgctc cctgcttggc
     2041 ttatgaaaac accactgaac agaaatttct ccagggagcc acaggctctc cttcatcgca
     2101 ttttgatttt tttgttcatt ctctagacaa aatccatcag ggaatgctgc aggaaacgat
     2161 tgccaactat acgaatggct tcgaggagat aaactgaaat ttgctatata attaatattt
     2221 tggcagatga taggggaact cctcaacact cagtgggcca attgttctta aaaccaattg
     2281 cacgtttggt gaaagtttct tcaactctga atcaaaagct gaaattctca gaattacagg
     2341 aaatgcaaac catcatttaa tttctaattt caagttacat ccgctttatg gagatactat
     2401 ttagataaca agaatacaac ttgatacttt tattgttata cctttttgaa catgtatgat
     2461 ttctgttgtt attcctattg gagctaagtt tgtctacact aaaatttaaa tcagactaga
     2521 gaataatttt tgtggcatgt tgtaacattt cacagtattt acaagctatt tttgcacagg
     2581 tacatagctc tcatgtattt aaagaacact gcagtgttat tttctttgaa attcatcctc
     2641 cacggaccca ttcatactaa ataaaacaat gtaattacat taaaatggac ctatctgtaa
     2701 gaggtactaa aaacactgga ttcatttcat cttgcaaatg ttgtatttca aaccagtttc
     2761 acataagtta tttgtcttct tttcaaaata attagctata tttttatata atatgaatat
     2821 atacataaaa attgtttcta taaattgtag aacatagatg ctacagtatt ttttatttaa
     2881 ttatattatg aataaaattg ttatttcaat agtacccaac caaagatgct taaaaacctt
     2941 ctatgttcat aaaaaataac aactgagatg ttaaaatagt catacgtctt tagatgctat
     3001 taaagtttca ttagtcatat ttttgtaaat atgacagaat ttgtgaatat atttttaaag
     3061 caaaaaactt caacatgcat atgatatata gttacaacat taattttatg aactggagag
     3121 ctttactttg tggatatatt taaaattcat attatagctc ctattaaatt ccttccatga
     3181 tagatataaa ggactggttt ttaagtgcac tgcacttctg gaatactgaa aaagaatgaa
     3241 aacaatatgt tagattaggt gtaagacttt aagaagcgaa caaaaagtaa tgtatatctg
     3301 taatatataa tcaaatgatt catttttctg ttagactagg caaattgttc aaaaataacc
     3361 tttttgtctt ttaagtagca gtcactttgc ttaagatgct aatagaaaac tgtggttaaa
     3421 gatttaccct ccctcttggt gaattattac actgtaagaa atgtatatgc tactgtgtta
     3481 catgttgtat tagtaaatta ttagaatcca attaatgatt caattaacat atatcttatc
     3541 caattcatta tgtcaattca ttaataaaat accttttatg tagaggcttt atgttgcaat
     3601 taaaaagttg ggaaaatga
//
LOCUS       NM_000911               9317 bp    mRNA    linear   PRI 05-JUL-2023
DEFINITION  Homo sapiens opioid receptor delta 1 (OPRD1), mRNA.
ACCESSION   NM_000911
VERSION     NM_000911.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9317)
  AUTHORS   Ying Y, Li X and Chen Y.
  TITLE     Hypomethylation of the opioid receptor delta 1 gene combined with
            high opioid receptor delta 1 protein levels indicates increased risk
            of gout
  JOURNAL   J Clin Lab Anal 36 (9), e24634 (2022)
   PUBMED   35908776
  REMARK    GeneRIF: Hypomethylation of the opioid receptor delta 1 gene
            combined with high opioid receptor delta 1 protein levels indicates
            increased risk of gout.
REFERENCE   2  (bases 1 to 9317)
  AUTHORS   Miyano K, Yoshida Y, Hirayama S, Takahashi H, Ono H, Meguro Y,
            Manabe S, Komatsu A, Nonaka M, Mizuguchi T, Fujii H, Higami Y,
            Narita M and Uezono Y.
  TITLE     Oxytocin Is a Positive Allosteric Modulator of kappa-Opioid
            Receptors but Not delta-Opioid Receptors in the G Protein Signaling
            Pathway
  JOURNAL   Cells 10 (10), 2651 (2021)
   PUBMED   34685631
  REMARK    GeneRIF: Oxytocin Is a Positive Allosteric Modulator of kappa-Opioid
            Receptors but Not delta-Opioid Receptors in the G Protein Signaling
            Pathway. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 9317)
  AUTHORS   Wu B, Hand W and Alexov E.
  TITLE     Opioid Addiction and Opioid Receptor Dimerization: Structural
            Modeling of the OPRD1 and OPRM1 Heterodimer and Its Signaling
            Pathways
  JOURNAL   Int J Mol Sci 22 (19), 10290 (2021)
   PUBMED   34638633
  REMARK    GeneRIF: Opioid Addiction and Opioid Receptor Dimerization:
            Structural Modeling of the OPRD1 and OPRM1 Heterodimer and Its
            Signaling Pathways. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 9317)
  AUTHORS   Crist RC, Arauco-Shapiro G, Zhang A, Reiner BC, Berrettini WH and
            Doyle GA.
  TITLE     Differential expression and transcription factor binding associated
            with genotype at a pharmacogenetic variant in OPRD1
  JOURNAL   Am J Drug Alcohol Abuse 47 (5), 581-589 (2021)
   PUBMED   34407719
  REMARK    GeneRIF: Differential expression and transcription factor binding
            associated with genotype at a pharmacogenetic variant in OPRD1.
REFERENCE   5  (bases 1 to 9317)
  AUTHORS   Thomas PS Jr, Nielsen EM, Spellicy CJ, Harding MJ, Ye A, Patriquin
            M, Hamon SC, Kosten TR and Nielsen DA.
  TITLE     The OPRD1 rs678849 variant influences outcome of disulfiram
            treatment for cocaine dependency in methadone-maintained patients
  JOURNAL   Psychiatr Genet 31 (3), 88-94 (2021)
   PUBMED   33953123
  REMARK    GeneRIF: The OPRD1 rs678849 variant influences outcome of disulfiram
            treatment for cocaine dependency in methadone-maintained patients.
REFERENCE   6  (bases 1 to 9317)
  AUTHORS   Simonin F, Befort K, Gaveriaux-Ruff C, Matthes H, Nappey V, Lannes
            B, Micheletti G and Kieffer B.
  TITLE     The human delta-opioid receptor: genomic organization, cDNA cloning,
            functional expression, and distribution in human brain
  JOURNAL   Mol Pharmacol 46 (6), 1015-1021 (1994)
   PUBMED   7808419
REFERENCE   7  (bases 1 to 9317)
  AUTHORS   Befort K, Mattei MG, Roeckel N and Kieffer B.
  TITLE     Chromosomal localization of the delta opioid receptor gene to human
            1p34.3-p36.1 and mouse 4D bands by in situ hybridization
  JOURNAL   Genomics 20 (1), 143-145 (1994)
   PUBMED   8020949
REFERENCE   8  (bases 1 to 9317)
  AUTHORS   Evans CJ, Keith DE Jr, Morrison H, Magendzo K and Edwards RH.
  TITLE     Cloning of a delta opioid receptor by functional expression
  JOURNAL   Science 258 (5090), 1952-1955 (1992)
   PUBMED   1335167
REFERENCE   9  (bases 1 to 9317)
  AUTHORS   Offermanns S, Schultz G and Rosenthal W.
  TITLE     Evidence for opioid receptor-mediated activation of the G-proteins,
            Go and Gi2, in membranes of neuroblastoma x glioma (NG108-15) hybrid
            cells
  JOURNAL   J Biol Chem 266 (6), 3365-3368 (1991)
   PUBMED   1671672
REFERENCE   10  (bases 1 to 9317)
  AUTHORS   Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M and Kaziro Y.
  TITLE     Presence of three distinct molecular species of Gi protein alpha
            subunit. Structure of rat cDNAs and human genomic DNAs
  JOURNAL   J Biol Chem 263 (14), 6656-6664 (1988)
   PUBMED   2834384
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U07882.2, U10504.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMN03465403 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000234961.7/ ENSP00000234961.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BF434068.1, U10504.1 and AL009181.1.
            On Nov 22, 2018 this sequence version replaced NM_000911.3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..9317
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.3"
     gene            1..9317
                     /gene="OPRD1"
                     /gene_synonym="DOP; DOR; DOR1; OPRD"
                     /note="opioid receptor delta 1"
                     /db_xref="GeneID:4985"
                     /db_xref="HGNC:HGNC:8153"
                     /db_xref="MIM:165195"
     CDS             215..1333
                     /gene="OPRD1"
                     /gene_synonym="DOP; DOR; DOR1; OPRD"
                     /note="delta opioid receptor 1; DOR-1; D-OR-1"
                     /codon_start=1
                     /product="delta-type opioid receptor"
                     /protein_id="NP_000902.3"
                     /db_xref="CCDS:CCDS329.1"
                     /db_xref="GeneID:4985"
                     /db_xref="HGNC:HGNC:8153"
                     /db_xref="MIM:165195"
                     /translation="MEPAPSAGAELQPPLFANASDAYPSACPSAGANASGPPGARSASS
                     LALAIAITALYSAVCAVGLLGNVLVMFGIVRYTKMKTATNIYIFNLALADALATSTLPF
                     QSAKYLMETWPFGELLCKAVLSIDYYNMFTSIFTLTMMSVDRYIAVCHPVKALDFRTPA
                     KAKLINICIWVLASGVGVPIMVMAVTRPRDGAVVCMLQFPSPSWYWDTVTKICVFLFAF
                     VVPILIITVCYGLMLLRLRSVRLLSGSKEKDRSLRRITRMVLVVVGAFVVCWAPIHIFV
                     IVWTLVDIDRRDPLVVAALHLCIALGYANSSLNPVLYAFLDENFKRCFRQLCRKPCGRP
                     DPSSFSRAREATARERVTACTPSDGPGGGAAA"
     misc_feature    266..268
                     /gene="OPRD1"
                     /gene_synonym="DOP; DOR; DOR1; OPRD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P41143.4); glycosylation site"
     misc_feature    311..313
                     /gene="OPRD1"
                     /gene_synonym="DOP; DOR; DOR1; OPRD"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P41143.4); glycosylation site"
     misc_feature    356..439
                     /gene="OPRD1"
                     /gene_synonym="DOP; DOR; DOR1; OPRD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41143.4);
                     transmembrane region"
     misc_feature    470..544
                     /gene="OPRD1"
                     /gene_synonym="DOP; DOR; DOR1; OPRD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41143.4);
                     transmembrane region"
     misc_feature    581..646
                     /gene="OPRD1"
                     /gene_synonym="DOP; DOR; DOR1; OPRD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41143.4);
                     transmembrane region"
     misc_feature    704..772
                     /gene="OPRD1"
                     /gene_synonym="DOP; DOR; DOR1; OPRD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41143.4);
                     transmembrane region"
     misc_feature    833..928
                     /gene="OPRD1"
                     /gene_synonym="DOP; DOR; DOR1; OPRD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41143.4);
                     transmembrane region"
     misc_feature    998..1066
                     /gene="OPRD1"
                     /gene_synonym="DOP; DOR; DOR1; OPRD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41143.4);
                     transmembrane region"
     misc_feature    1112..1177
                     /gene="OPRD1"
                     /gene_synonym="DOP; DOR; DOR1; OPRD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41143.4);
                     transmembrane region"
     misc_feature    1232..1330
                     /gene="OPRD1"
                     /gene_synonym="DOP; DOR; DOR1; OPRD"
                     /note="propagated from UniProtKB/Swiss-Prot (P41143.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      9287..9292
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OPRD1"
                     /gene_synonym="DOP; DOR; DOR1; OPRD"
                     /note="hexamer: AATAAA"
     polyA_site      9317
                     /gene="OPRD1"
                     /gene_synonym="DOP; DOR; DOR1; OPRD"
                     /note="major polyA site"
ORIGIN
        1 acagcgctcc gggcgaggag agcgggcgga cgccgggggc tgggccggtg cgggcggcga
       61 ggcaggcgga cgaggcgcag agacagcggg gcggccgggg cgcggcagcc ggcggcgtcg
      121 gggccgcggc ctctgccttg ccgctcccct cgcgtcggat ccccgcgccc agggcgcacg
      181 gtggagaggg acgcggcgga gccggccggc agccatggaa ccggccccct ccgccggcgc
      241 cgagctgcag cccccgctct tcgccaacgc ctcggacgcc taccctagcg cctgccccag
      301 cgctggcgcc aatgcgtcgg ggccgccagg cgcgcggagc gcctcgtccc tcgccctggc
      361 aatcgccatc accgcgctct actcggccgt gtgcgccgtg gggctgctgg gcaacgtgct
      421 tgtcatgttc ggcatcgtcc ggtacactaa gatgaagacg gccaccaaca tctacatctt
      481 caacctggcc ttagccgatg cgctggccac cagcacgctg cctttccaga gtgccaagta
      541 cctgatggag acgtggccct tcggcgagct gctctgcaag gctgtgctct ccatcgacta
      601 ctacaatatg ttcaccagca tcttcacgct caccatgatg agtgttgacc gctacatcgc
      661 tgtctgccac cctgtcaagg ccctggactt ccgcacgcct gccaaggcca agctgatcaa
      721 catctgtatc tgggtcctgg cctcaggcgt tggcgtgccc atcatggtca tggctgtgac
      781 ccgtccccgg gacggggcag tggtgtgcat gctccagttc cccagcccca gctggtactg
      841 ggacacggtg accaagatct gcgtgttcct cttcgccttc gtggtgccca tcctcatcat
      901 caccgtgtgc tatggcctca tgctgctgcg cctgcgcagt gtgcgcctgc tgtcgggctc
      961 caaggagaag gaccgcagcc tgcggcgcat cacgcgcatg gtgctggtgg ttgtgggcgc
     1021 cttcgtggtg tgttgggcgc ccatccacat cttcgtcatc gtctggacgc tggtggacat
     1081 cgaccggcgc gacccgctgg tggtggctgc gctgcacctg tgcatcgcgc tgggctacgc
     1141 caatagcagc ctcaaccccg tgctctacgc tttcctcgac gagaacttca agcgctgctt
     1201 ccgccagctc tgccgcaagc cctgcggccg cccagacccc agcagcttca gccgcgcccg
     1261 cgaagccacg gcccgcgagc gtgtcaccgc ctgcaccccg tccgatggtc ccggcggtgg
     1321 cgctgccgcc tgaccaggcc atccggcccc cagagcgccc ctccctagtg acccggaggc
     1381 cacatgagtc ccagtgggag gcgcgagcca tgatgtggag tggggcagta gaaggtcgga
     1441 ggcttgggac cgccagatgg ggcctctgtt tcggagacgg gaccgggccg ctagatgggc
     1501 atggggtggg cctctggttt ggggcgaggc agaggacaga tcaatggcgc agtgcctctg
     1561 gtctgggtgc cccgtccacg gctctaggtg gggcgggaaa gccagtgact ccaggagagg
     1621 agcgggacct gtggctctac aactgagtcc ttaaacaggg catctccagg aaggcggggc
     1681 ttcaaccttg agacagcttc ggtttctaac ttggagccgg actttcggag ttgggggtcc
     1741 gggcccagga cccagaaagg gcagtggtgg ggacagttgc ttgaaaactg agctgcaaga
     1801 ctgggcctct gtgtagtagg gaggagcctc ctgtgagggg agacccagag acaggacagc
     1861 tgggtgtggc tacagctgaa gatttggtca ccagataggg cgcctgtgca aagggcctgt
     1921 ggcctcatct ttggatacgg gatacagtcc cagccctgag ttctagcaag gggcaaggct
     1981 cgctgaggtc caggtccgac ttgacacctt tataaataga atataaaaga ctgaggggcc
     2041 aggcgtggtg gctcaagcct gtaatcccag cactttggga ggccgaggca ggtggatgga
     2101 catgagccca ggagttcgag actagtctgg gcaacatggg agaccctgtc gctacaaaaa
     2161 atacaaaatt agccaggcat ggtggtgtgt acctgcaggc ctagctcctt ggaaggtgag
     2221 aggatcactt gatcccagga gtttgaagct gcagtgagct atggtggtgc cactgcactc
     2281 cagcctgggg gacagagtaa gactctgtct ctcaaaaagg agagagaggg agaatgaggg
     2341 aagaagagat aggaagagag agaaacagta taccttttat ctctttgaca ggcatgtatt
     2401 tccttggaat gggcaggaat ccctcagaat cggtggccac agtggggctt gggacaggac
     2461 agcagagcgg ggggcagcca ctccaggata gggtaataag acaggacctt ggttggagta
     2521 gggtccccag aactgagtac taatgggggc ccagaggctt gggaaggaga aggcttccaa
     2581 aaccagttcg aaaacccaga cccggagtgg acctccgtgc caaggggtgg tggtgggtgg
     2641 gtggaggaag aggtgggctc ctgcttcaag gttaggtctt ccagtggaag gtggatgctt
     2701 tctgtgagtc cccagggccc tagtttctct ggcccagata ctggaggaca gaggaccacc
     2761 tacttagatc ccgtagatgg taagtggtgc ctgggactct tgagggcggg gggcggggta
     2821 tgagaagcat cagttcgcac ttggtgctgg gtcctgggcc ctgataagaa cctggatgaa
     2881 atcctcttcc attctcccaa catctggctg catccatgtg tctggtgtca atgactccag
     2941 tgaactggaa ctgcccatat ggggacctga ccttgaagga actgggggga gaagcttttg
     3001 taactgcaat gccggcatca gtgtgtgtcc ccctctgcct ttccccccag gctccccagg
     3061 tcccccacct gctccagccc agctgtcccc ttcacgctgc tgagagtgat atccacctgg
     3121 agttgggtgt agaagttttt cttttcattg gttcggcatt ttattcaggc actcctggat
     3181 ctttgcttcc cagaatatca gtgtctgtcc ttgttctctg tacctccccc gtgcctcatc
     3241 tcctctccct ccgctgctgt cccctccctc accaacactg cctcagtaat gcacccctga
     3301 ctccctattg aagcagtgtg ctgacatcct tgtaaaaaca aatttaattt tcttcctttt
     3361 ttgggacaga tggaaagaaa ttgacgtctt tgtctcaaac aaaagaaaaa agaaaaagaa
     3421 acaatatact tcttttccct ttgacagcca tgtctttgga acaaaagctg ggaggctgtc
     3481 actccagcag ggactgaata gcatgcaggg ggctggggac ttaggcacca agaggggctt
     3541 tgggcacatt agggggaagg gatgctctca gagggcaaag cacagccccc ttctcagggt
     3601 gaggctccca gcagccccag acccggggat gtgcctcctt tgggaaatgg ctaccccggg
     3661 tcctggaaag atgtggggcc atgcccagca ctcacatcca gcctgccaag ccattgtgac
     3721 ctggggtccc aagccaccta gatcactctc actaccttgt gaccacagag acccctgtgt
     3781 ctgagggtgg gaggtcgtca gcatggcagg agacacttct cctcatcagg ggtcctcctg
     3841 tgaatgcttt gggggtatgg cagaaaaagg gacaatctag gaactgggga agactcctga
     3901 aggaggtgac attggagcca ggctgtttac tctccctgca ggacctgtgt cccctcccag
     3961 gataggcctg tttcaaggct gcttgaagcc cactcactgc catctcctgt gtctgtaaca
     4021 gatctggctg ttttttgccc cttctgatat gtaaatctgt cctgaggtca gcagggcccg
     4081 ggtccggacc acgtgtgttt aaggtagtgc aaacttgtat tgaaatctac ttcatgccaa
     4141 gcatgcactc tgggcatcag gactcggaat gagtcagcct tggccctgcc ctcagaaagc
     4201 ctgagccagt gttgggagat aaagcatcaa cagatgattg cacctcagtg tgatgagtgc
     4261 ggtgacaggg agccccaggg agggtgtcac agggaagtgc cttttctagc ttttcactaa
     4321 aacacatgtt tgtcgcagtt ctgtaagagg tggaaaaggg tcggggaccc tgaaggatga
     4381 ataggagttg gccaccaaaa agaggaaata gcgtgtgcgg aggcatgggg atgtttaaat
     4441 gcttggcaaa cccaacaagt tgggtgcagc tggagcatgg ggcttaacta agctcttctg
     4501 tgtgccaggc tctctgccag gtgtcttgtg tgcatcagcc cacctgatcc tcaggacagc
     4561 ctggtgagga agtagtgtta tccccattga ggacaaagag agctgaggct gagagaggtc
     4621 aggctacttg ctcctaagtc acagggcctg ttcgtagtgg cagaacttgg gtccctggaa
     4681 ttccagggtc catgtttcca gttaattcca ggcatcagtg aagtagaaag gccttagaag
     4741 ctggaacccc agaatgaggt tttgaagacc taaaaccaaa tggaaaaatc taaaggaaac
     4801 gagcaatttt ccatgaactt ttgttcctcc tgaagctctc caaatcttca cgtttcagaa
     4861 tgtactgtgc atggtgcatt ttaaagctct aaattgacag tgtaattcta gatcgtcaca
     4921 gggttctcaa aactgcagag taggtctgtt tcccccaaaa tttccattta tctccctcca
     4981 ggaggaggga gggaagtttt tgcccctgat ttcaaaatgt cctactgttt cagatctctt
     5041 cttcttcatc atcttttttt tttttttttc agccagtgtc ttgctctgtt gcccagtctg
     5101 gagtgcaagt gcagtggtgc agtcatagct cactgcagtc tcaaactcct gggctcaagt
     5161 gatcttccca cctcagcctc ctgagaatct gggacgacgg gtgtgtgaca ccatgcccag
     5221 caattttatt tttattttta ttcatttatt ttgtttgggt tttttttttt ctgagacagg
     5281 gtctccctct gtcgcatagg ctggagtgca gtggcaccat ctcggctcat tgcaacctcc
     5341 gcctcctggg ttcaagtcat cctcccgcct cagcctcctg agtagctggg attacaggtg
     5401 tgcaccacca taacccagct aatattttta tttttagtag agacggggtt tcaccatttg
     5461 gccaaactgg tctcgaactc ctgacctcag gggatctgcc cgcctcagct tcccaaagtg
     5521 ctgggattac aggcgtgagc caccaagccc ggccaatttt tttttttttc aatagagacc
     5581 agagtgtctc tgtgttgccc agactggtct tgaacttctg tcctcaagca attctcctgc
     5641 cttggcctcc caaagtactg ggtttacagg tgtgagccac tgtgcccagc tctcatacct
     5701 cgtcttgatg cagtagaagt agtggttaag cctggaatca gatcttggtt ttccctctct
     5761 gagcctcagt ttcctcatct gtagagtaga cttccttcac gggtggttgt gaggatttaa
     5821 tgtatgtata gggataaggc ccagaacgta agtaaactct aagtacatgg taagtggcag
     5881 tcactgctta caagtggagc cagggttcag ggtcagagct agagacctac agggaagagt
     5941 aggtgagctg tcggggctag tgatggagag agagaagaga ctggagatcc agcttgggga
     6001 tccccttgct tcctggccca ggagccacca tggagagtga gaagctgcca gagaagcagg
     6061 aggaggatgg agagaatgtg ctaccatgga aactggagga ggagggcgtt cccaggagga
     6121 gggagtgatg gataatgtca agtgtcataa gagaggatgc gagtagggag ggcaggaggg
     6181 tgatgggagc tctccaattt agttttttac atggcccagg cagcccccaa gcctggatca
     6241 aatcccagct ctcaagctaa ctggctgtgt gacctagaca agggatttgc cttctctgag
     6301 cttcagtttc cttctagagt tgagatgtgg gaattggtcc atctctaata cgatcatcag
     6361 cctcacttaa taagagtcct agctttgccg aattcttggc cacgtgctag cagtgtgatc
     6421 ttaggcaagt cacttcacct ccacgagagc actctctgaa agctagagat atggtaagca
     6481 aagtgccacc aaagtgcctg gcacatagtg gggcctcgat acaggcttat tctctgataa
     6541 ttacacgtgt gccagaggca gctgctctaa ggaggcttgc tgggcttgga attagaaatg
     6601 ctcctcaagg gctgggtgca gtggctcacg cctgtaatcc tagcactttg ggaggccaag
     6661 gcgggtggat catgaggtca ggagttcaac accagcctga ccaacatggt gaaaccctgt
     6721 ctgtactaaa aacacaaaaa ttagccaggc gtggtggcgt gcacctgtaa tcccagctac
     6781 tcaggaggct gaggcgggag aatcgcctga acccaggaag cagaggttac agtgagccaa
     6841 gatcttgcca ctgtactcca gcctgggcga cagagcgaga ctctgtctga aaaaaaaaaa
     6901 aaattaaaaa gaaatgctcc tcaagttgga gagggcccac tagcatcctg agaggacttg
     6961 gaagaacaac agtccaggct gggcacctgc tgggtctctg tccaaaggcc agccctctct
     7021 ttgtgtcagc cgcagatccc tcacctaggg catgactact ggctgccagc tcccactaac
     7081 acctgctgca gatccagact gaagccggcc ccagcggccc caaagcccct aggaagtgac
     7141 caccccccat ccctggcacc cagatcctgg cccctgcact cacacacaaa acacatacag
     7201 atgcctctct ttcatcatgt atttattcct ttatttctgg gagccgggag gagtgacggg
     7261 agcaaatcag gacctggccg ccccacgctg agcttgcaga tattgagagt tgggtgacag
     7321 atggctgtgt ggttcaggct gcaggcagct tgggaattca aaatggggct tagagaggag
     7381 ctggaggggg ccctcgaggt ggacgtagtg atgcagtagg gcatggcact gcgaggttgc
     7441 ccgggttcta gtcccagcac catcaccggg gatgagccgt ttcagagtgt ggcactctgt
     7501 cacactccat ttcattgaga ggccactgag acattatcaa tgggtaatgt acagcacttc
     7561 catggcataa ctcatttaat cttcacagca tgatgatgag gtaggcatag tatcattacc
     7621 tccattttac agatggggaa actgaggctc agagaaggga atgacttgcc caagaccaca
     7681 tggcttctca gtgattggct cagctaggat cccacctttg gtccttcaag tccacttcct
     7741 ctgctttcct cttcctgcac cctgagagga aatgctctga gtataccgag ggtcctcagg
     7801 agactctcac atccagctca cagtcacagg ctgagcattc cctgtgctgg gttctgtacc
     7861 tcatcatgtt ggcagcagag gcacgtgcca gctgctcaaa aaactgctgt aaccttggta
     7921 gatccctctc cccatccatt tcttccttgc cttggaagtc ctgcttgttt gataattttc
     7981 tgactgactg ccatgttgtt gccttgtgac cttgggcatg tcatttcact ctgagccatt
     8041 tctcagtcat ggatgacagc acttagctga tgagaagttg agaagattca gaaagaggct
     8101 atgagtgaag gaccttgtct gttttggtca tgaaagtgtt cccaggaaat gcaaatggac
     8161 acacagtagt tatctactga gctaatgaac aatgtccctg gtgcatagta agtgcccaat
     8221 aaaatgcagc ttttttcata ttatctaatg ttttaggcca tgcctgcacc aacccatgct
     8281 tctttttttt tttctttctt tctttctttt ttttttttta agacagagtc tcactctgtc
     8341 acccaggctg aagtgcaatg gcgagatctc ggctcactgc aacctccgcc gcccgggttc
     8401 aagcaattct cctgcctcag cctgctgagt agctgggatt acaggcacgt gcccggctaa
     8461 ttttgtattt ttagtagaga cggggtttcg ccgtgttggc caggctggtc tcgaactcct
     8521 gacctcaact gatccaccca cctcggcctc ccaaagtgct aggattacag gcatgagcca
     8581 ccgtgcccag cccaacccat ggttcttaat gctgcaggtg ggtccggaga aaggcttttc
     8641 tcttttaacc atctccttga atttcagaag gtgggacaac atgtgctgga aagcagttct
     8701 taagaggaca tcttttccca agctccttag ccttagctgt cctctcctgc cctcaccagg
     8761 actgccctct cagggaccca agaggaaggg acagcctgga aaggaagaag gtcccgggcc
     8821 atctgcgtca tggggatgga gtcccttggc gtgtgccggt gcaaatacac tcctgtaacg
     8881 gggctcatct agaatctcct ctcggaatga ggagaccgca aatgtggttt tgaatcttca
     8941 ttgtccactt cattgctgtg gtgttgggca ggtctctgtc cctctctggg cctctgcacg
     9001 atggaggggt aggagttgat ggttctgaag gctctgccat cctggaaaag aactgagaca
     9061 cttccctcat gttcctgggt cccagaaaca gacatctgtt ggtaaaatct actgggcatt
     9121 tgcccagaga cagggaaaag aatgcctggg ggtctgtaat aggagctgcc ccaattaggg
     9181 gcagggaggc gggcatgtaa aaaaggaagc ttaaagcttt gttttcaggc tttttgccta
     9241 ccccaggctc catcttggta ccaagtactc aaccttctgt tttctcaata aagtgagccc
     9301 tcttctcggt gtctgca
//
LOCUS       NM_000912               4954 bp    mRNA    linear   PRI 17-JUL-2023
DEFINITION  Homo sapiens opioid receptor kappa 1 (OPRK1), transcript variant 1,
            mRNA.
ACCESSION   NM_000912
VERSION     NM_000912.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4954)
  AUTHORS   Ozkan-Kotiloglu S, Kaya-Akyuzlu D, Yurdakul R, Yildirim MA and
            Ozgur-Ilhan I.
  TITLE     Effect of PDYN and OPRK1 polymorphisms on the risk of alcohol use
            disorder and the intensity of depressive symptoms
  JOURNAL   Alcohol Alcohol 58 (4), 404-414 (2023)
   PUBMED   37177778
  REMARK    GeneRIF: Effect of PDYN and OPRK1 polymorphisms on the risk of
            alcohol use disorder and the intensity of depressive symptoms.
REFERENCE   2  (bases 1 to 4954)
  AUTHORS   Hoye J, Key J, de Laat B, Cosgrove KP, Krishnan-Sarin S,
            Papademetris X and Morris ED.
  TITLE     Clustering of KOR PET images separates people with AUD into distinct
            responses to naltrexone
  JOURNAL   Brain Imaging Behav 17 (3), 367-371 (2023)
   PUBMED   36695971
  REMARK    GeneRIF: Clustering of KOR PET images separates people with AUD into
            distinct responses to naltrexone.
REFERENCE   3  (bases 1 to 4954)
  AUTHORS   Lee SJ, Logsdon AF, Yagi M, Baskin BM, Peskind ER, Raskind MM, Cook
            DG and Schindler AG.
  TITLE     The dynorphin/kappa opioid receptor mediates adverse immunological
            and behavioral outcomes induced by repetitive blast trauma
  JOURNAL   J Neuroinflammation 19 (1), 288 (2022)
   PUBMED   36463243
  REMARK    GeneRIF: The dynorphin/kappa opioid receptor mediates adverse
            immunological and behavioral outcomes induced by repetitive blast
            trauma. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4954)
  AUTHORS   Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM,
            Baranov PV and Atkins JF.
  TITLE     Evidence of efficient stop codon readthrough in four mammalian genes
  JOURNAL   Nucleic Acids Res 42 (14), 8928-8938 (2014)
   PUBMED   25013167
REFERENCE   5  (bases 1 to 4954)
  AUTHORS   Yuferov V, Fussell D, LaForge KS, Nielsen DA, Gordon D, Ho A, Leal
            SM, Ott J and Kreek MJ.
  TITLE     Redefinition of the human kappa opioid receptor gene (OPRK1)
            structure and association of haplotypes with opiate addiction
  JOURNAL   Pharmacogenetics 14 (12), 793-804 (2004)
   PUBMED   15608558
  REMARK    GeneRIF: OPKR1 structure and association of haplotypes with opiate
            addiction was found to have empirical significance. GeneRIF:
            Observational study of gene-disease association. (HuGE Navigator)
REFERENCE   6  (bases 1 to 4954)
  AUTHORS   Beier H and Grimm M.
  TITLE     Misreading of termination codons in eukaryotes by natural nonsense
            suppressor tRNAs
  JOURNAL   Nucleic Acids Res 29 (23), 4767-4782 (2001)
   PUBMED   11726686
  REMARK    Review article
REFERENCE   7  (bases 1 to 4954)
  AUTHORS   Simonin F, Gaveriaux-Ruff C, Befort K, Matthes H, Lannes B,
            Micheletti G, Mattei MG, Charron G, Bloch B and Kieffer B.
  TITLE     kappa-Opioid receptor in humans: cDNA and genomic cloning,
            chromosomal assignment, functional expression, pharmacology, and
            expression pattern in the central nervous system
  JOURNAL   Proc Natl Acad Sci U S A 92 (15), 7006-7010 (1995)
   PUBMED   7624359
REFERENCE   8  (bases 1 to 4954)
  AUTHORS   Zhu J, Chen C, Xue JC, Kunapuli S, DeRiel JK and Liu-Chen LY.
  TITLE     Cloning of a human kappa opioid receptor from the brain
  JOURNAL   Life Sci 56 (9), PL201-PL207 (1995)
   PUBMED   7869844
REFERENCE   9  (bases 1 to 4954)
  AUTHORS   Wang JB, Johnson PS, Wu JM, Wang WF and Uhl GR.
  TITLE     Human kappa opiate receptor second extracellular loop elevates
            dynorphin's affinity for human mu/kappa chimeras
  JOURNAL   J Biol Chem 269 (42), 25966-25969 (1994)
   PUBMED   7929306
REFERENCE   10  (bases 1 to 4954)
  AUTHORS   Mansson E, Bare L and Yang D.
  TITLE     Isolation of a human kappa opioid receptor cDNA from placenta
  JOURNAL   Biochem Biophys Res Commun 202 (3), 1431-1437 (1994)
   PUBMED   8060324
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC099912.1, SRR1803612.57217.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000265572.8/ ENSP00000265572.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY466378.1, U17298.1,
            BC099912.1, DA264471.1 and AK023198.1.
            On Nov 23, 2018 this sequence version replaced NM_000912.4.
            Summary: This gene encodes an opioid receptor, which is a member of
            the 7 transmembrane-spanning G protein-coupled receptor family. It
            functions as a receptor for endogenous ligands, as well as a
            receptor for various synthetic opioids. Ligand binding results in
            inhibition of adenylate cyclase activity and neurotransmitter
            release. This opioid receptor plays a role in the perception of
            pain and mediating the hypolocomotor, analgesic and aversive
            actions of synthetic opioids. Variations in this gene have also
            been associated with alcohol dependence and opiate addiction.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. A recent study provided
            evidence for translational readthrough in this gene, and expression
            of an additional C-terminally extended isoform via the use of an
            alternative in-frame translation termination codon. [provided by
            RefSeq, Dec 2017].
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes two isoforms, which result from the use of
            alternative in-frame translation termination codons. The shorter
            isoform (1) results from translation termination at the upstream
            UGA stop codon, while the longer isoform (1x) results from UGA stop
            codon readthrough to the downstream UGA termination codon (nt .
            This RefSeq represents the shorter isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4954
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q11.23"
     gene            1..4954
                     /gene="OPRK1"
                     /gene_synonym="K-OR-1; KOP; KOR; KOR-1; KOR1; OPRK"
                     /note="opioid receptor kappa 1"
                     /db_xref="GeneID:4986"
                     /db_xref="HGNC:HGNC:8154"
                     /db_xref="MIM:165196"
     misc_feature    188..190
                     /gene="OPRK1"
                     /gene_synonym="K-OR-1; KOP; KOR; KOR-1; KOR1; OPRK"
                     /note="upstream in-frame stop codon"
     CDS             239..1381
                     /gene="OPRK1"
                     /gene_synonym="K-OR-1; KOP; KOR; KOR-1; KOR1; OPRK"
                     /note="isoform 1 is encoded by transcript variant 1; Opiate
                     receptor, kappa-1; kappa-type opioid receptor; kappa opioid
                     receptor"
                     /codon_start=1
                     /product="kappa-type opioid receptor isoform 1"
                     /protein_id="NP_000903.2"
                     /db_xref="CCDS:CCDS6152.1"
                     /db_xref="GeneID:4986"
                     /db_xref="HGNC:HGNC:8154"
                     /db_xref="MIM:165196"
                     /translation="MDSPIQIFRGEPGPTCAPSACLPPNSSAWFPGWAEPDSNGSAGSE
                     DAQLEPAHISPAIPVIITAVYSVVFVVGLVGNSLVMFVIIRYTKMKTATNIYIFNLALA
                     DALVTTTMPFQSTVYLMNSWPFGDVLCKIVISIDYYNMFTSIFTLTMMSVDRYIAVCHP
                     VKALDFRTPLKAKIINICIWLLSSSVGISAIVLGGTKVREDVDVIECSLQFPDDDYSWW
                     DLFMKICVFIFAFVIPVLIIIVCYTLMILRLKSVRLLSGSREKDRNLRRITRLVLVVVA
                     VFVVCWTPIHIFILVEALGSTSHSTAALSSYYFCIALGYTNSSLNPILYAFLDENFKRC
                     FRDFCFPLKMRMERQSTSRVRNTVQDPAYLRDIDGMNKPV"
     misc_feature    311..313
                     /gene="OPRK1"
                     /gene_synonym="K-OR-1; KOP; KOR; KOR-1; KOR1; OPRK"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17711303; propagated from
                     UniProtKB/Swiss-Prot (P41145.2); glycosylation site"
     misc_feature    353..355
                     /gene="OPRK1"
                     /gene_synonym="K-OR-1; KOP; KOR; KOR-1; KOR1; OPRK"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17711303; propagated from
                     UniProtKB/Swiss-Prot (P41145.2); glycosylation site"
     misc_feature    410..493
                     /gene="OPRK1"
                     /gene_synonym="K-OR-1; KOP; KOR; KOR-1; KOR1; OPRK"
                     /note="propagated from UniProtKB/Swiss-Prot (P41145.2);
                     transmembrane region"
     misc_feature    524..595
                     /gene="OPRK1"
                     /gene_synonym="K-OR-1; KOP; KOR; KOR-1; KOR1; OPRK"
                     /note="propagated from UniProtKB/Swiss-Prot (P41145.2);
                     transmembrane region"
     misc_feature    635..700
                     /gene="OPRK1"
                     /gene_synonym="K-OR-1; KOP; KOR; KOR-1; KOR1; OPRK"
                     /note="propagated from UniProtKB/Swiss-Prot (P41145.2);
                     transmembrane region"
     misc_feature    758..826
                     /gene="OPRK1"
                     /gene_synonym="K-OR-1; KOP; KOR; KOR-1; KOR1; OPRK"
                     /note="propagated from UniProtKB/Swiss-Prot (P41145.2);
                     transmembrane region"
     misc_feature    905..979
                     /gene="OPRK1"
                     /gene_synonym="K-OR-1; KOP; KOR; KOR-1; KOR1; OPRK"
                     /note="propagated from UniProtKB/Swiss-Prot (P41145.2);
                     transmembrane region"
     misc_feature    1061..1126
                     /gene="OPRK1"
                     /gene_synonym="K-OR-1; KOP; KOR; KOR-1; KOR1; OPRK"
                     /note="propagated from UniProtKB/Swiss-Prot (P41145.2);
                     transmembrane region"
     misc_feature    1172..1237
                     /gene="OPRK1"
                     /gene_synonym="K-OR-1; KOP; KOR; KOR-1; KOR1; OPRK"
                     /note="propagated from UniProtKB/Swiss-Prot (P41145.2);
                     transmembrane region"
     misc_feature    1466..1468
                     /gene="OPRK1"
                     /gene_synonym="K-OR-1; KOP; KOR; KOR-1; KOR1; OPRK"
                     /note="alternative translation termination codon, use of
                     which results in the longer, C-terminally extended isoform
                     1x"
     regulatory      4923..4928
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OPRK1"
                     /gene_synonym="K-OR-1; KOP; KOR; KOR-1; KOR1; OPRK"
                     /note="hexamer: AATAAA"
     polyA_site      4954
                     /gene="OPRK1"
                     /gene_synonym="K-OR-1; KOP; KOR; KOR-1; KOR1; OPRK"
                     /note="major polyA site"
ORIGIN
        1 agtagtggga gacgtgcgct gagaggcggg ggctgcgctc ggcggaacag cagccctcgg
       61 gcggagagcg gggccggggt ccgagagcag gtgatgccaa gagctgagcg ggactcgtga
      121 gcgcgcggtt cagcacctac cagggcgtcc cgtaaaaaac ctcgccttcg cctgtctctg
      181 ggaaccatag cgccgcaggt gccgcctgtc ctcgccttcc tgctgcaatc gccccaccat
      241 ggactccccg atccagatct tccgcgggga gccgggccct acctgcgccc cgagcgcctg
      301 cctgcccccc aacagcagcg cctggtttcc cggctgggcc gagcccgaca gcaacggcag
      361 cgccggctcg gaggacgcgc agctggagcc cgcgcacatc tccccggcca tcccggtcat
      421 catcacggcg gtctactccg tagtgttcgt cgtgggcttg gtgggcaact cgctggtcat
      481 gttcgtgatc atccgataca caaagatgaa gacagcaacc aacatttaca tatttaacct
      541 ggctttggca gatgctttag ttactacaac catgcccttt cagagtacgg tctacttgat
      601 gaattcctgg ccttttgggg atgtgctgtg caagatagta atttccattg attactacaa
      661 catgttcacc agcatcttca ccttgaccat gatgagcgtg gaccgctaca ttgccgtgtg
      721 ccaccccgtg aaggctttgg acttccgcac acccttgaag gcaaagatca tcaatatctg
      781 catctggctg ctgtcgtcat ctgttggcat ctctgcaata gtccttggag gcaccaaagt
      841 cagggaagac gtcgatgtca ttgagtgctc cttgcagttc ccagatgatg actactcctg
      901 gtgggacctc ttcatgaaga tctgcgtctt catctttgcc ttcgtgatcc ctgtcctcat
      961 catcatcgtc tgctacaccc tgatgatcct gcgtctcaag agcgtccggc tcctttctgg
     1021 ctcccgagag aaagatcgca acctgcgtag gatcaccaga ctggtcctgg tggtggtggc
     1081 agtcttcgtc gtctgctgga ctcccattca catattcatc ctggtggagg ctctggggag
     1141 cacctcccac agcacagctg ctctctccag ctattacttc tgcatcgcct taggctatac
     1201 caacagtagc ctgaatccca ttctctacgc ctttcttgat gaaaacttca agcggtgttt
     1261 ccgggacttc tgctttccac tgaagatgag gatggagcgg cagagcacta gcagagtccg
     1321 aaatacagtt caggatcctg cttacctgag ggacatcgat gggatgaata aaccagtatg
     1381 actagtcgtg gagatgtctt cgtacagttc ttcgggaaga gaggagttca atgatctagg
     1441 tttaactcag atcactactg cagtctgaca tgaaaagata gaatttaaaa taaactttta
     1501 gagatctcat ggtctgaagt catcagatgc agaccacgtt cgtgatcagt ggaaacatca
     1561 aggacaaaag gtccacgcaa cacatgcacc tcttctctag ggcacagaag cgaggcagag
     1621 cctcagttcc tctgatgaac aagggaacag gtcttttcct tctggtttgc taggtaaggt
     1681 tcagcaccca tctgctgtgg ccttcctatg aaacgtagtt tcaaaagctc ggtttaagaa
     1741 aaaaggaaaa gaaaaaacat tgctttcaga gctcaatggg catccaatcc agatgtttca
     1801 caatgacagc aacaacctcc aacggaatgg gaactatttc cagggttcat gcccagctca
     1861 ctgtatgctg tgtggacatg catttcatgt ggctgtgtgg taagaattac agcttacata
     1921 tggcttggac ccacatctga ggaatctgat gttcacttat accagaacat tatcttgcta
     1981 tttatgaaat tatttaaacg ttcaaaagat tgtttttaac atggtttaat ttcccaaaaa
     2041 ctacagtttt ttttcttagc atgctattca ggtaaacagt cttataataa agcatgtccc
     2101 attgtcaaga aacataaagt ggtgtgaata ccactgaaaa tatatatata gtatcttctg
     2161 taaataatag tacctgtgtg aataaggaat aggcttgcct cccagccagg caatttcctg
     2221 agggcacact aatgatatcc cctgagttgc taagttgatg ctgagacatt ttgctgggaa
     2281 ttagtcatgg catgatctct ttcagactcc ctgaatacca tttagtcccg taacagtgct
     2341 cacaactcat gtgctaatga atcacaaagg ctttaactag ctcccaggtt gtagccttcg
     2401 caggatctag tttatttgcc acatctcttt atgaacatat agcgattcgc agatctctct
     2461 attcacggag aggaaggtgt tttgcttctg tagatctcaa ggtactattt tgtggctctc
     2521 agcaggaagt agaattgttc ctaaatgtgt gctgaatgag gacatgatgt ccctcctggt
     2581 gccaggacac atcctgcatg gcattctgtg aagggcatac ctgctgagga taatgccagg
     2641 agcagcacat ttagggtaat tttgctaaaa cttccagatg acatataaat tccctctttt
     2701 tccccctgaa acttaccatt tcagaggtaa tggctttttc tgtaatttgc ctgagaagaa
     2761 aaaagggata atttagaaat aacactccaa gcctatatat tactagggct gcatcctctg
     2821 gaatttaata gaaaaattga atatatagcc ctatgtaact acagacatca ttacaactgt
     2881 taagttctgt tcaccatgca agttctcggt ggtgtatgta ctctcacctt ttggaaacaa
     2941 aaccttgcat tgaaggtttt acacatggct tcagaatgtt actctgacca tgtttgcctc
     3001 tactccagat tatcatggca cctaacacag atgacatatg gcagaatgga agtgatttct
     3061 cctaatgaaa atgaagtgct cttttgagta tttcttgttt tattgagatt cctatctgcc
     3121 cttgtatttt tataactgaa tgtaaatagg aattgcttaa atactggttt acactaatcc
     3181 catagttaaa aatcttggct atggtacagg aaggatatct atatagagga tagttccaga
     3241 aacaagccct ggtgaaatag gaaatataaa aacttcttta tggaacagga aaacccaaga
     3301 gactttctcg tcagattcct ttccagtgca aagtataaca gagataggat tatgagatga
     3361 aatcacagta gtgtgtttcc tttaattttt tctgtcttct tttttttttt tttttttttt
     3421 gagacggagt ctcgctctgt tgcccaggct ggagtgcggt agcacagtct tggctcactg
     3481 caacctccac ctcctgggtt caagcgattc tcctgcctct gcctcctaag tagctgggat
     3541 tacaggcgtg caccgccaag cccggctaat ttttgtattt ttagtagaga cggggtttca
     3601 ccatgttatg caggctggtc tcaaactcct gacctcagaa tattcacctg cctcggcctc
     3661 ccaaagtgct gggattacag atgtgaatgg ccacgcctgg cctgtttcct ttaagttagc
     3721 acttcacgtg ctcttacagc gttaattgcc attattggtt tgcctgattt tcctgcatct
     3781 cctcatatgt aagtctgcag cccaaggaga gaatagtagc tgtatgtgcc cacaaggggt
     3841 gtccaagctt cttgattctt gttaatatcg actccccaac attgaaaaag gagtgaagaa
     3901 gggaatatca ttttagggta ctgctttaaa ggaatgataa agtaaacaac gtagcaggga
     3961 aaataccact tgcacaaatg tatttctttg tcaaagtgtg tacacgcttt ctgtttgtcc
     4021 tgatgtcctg ctgtgaagca gggaccacat tgccatttat tcattgttcc aggcaatgca
     4081 tttgtccaaa cccctctggc tctctgatat ctctcatttc ttgatgttcc tattctctga
     4141 cctcaacaag gaggacactg tctgttgtgt ctctttgaga ctagaactcc atgtgtttaa
     4201 ccttcagatc cattctctac atgaacccta ttctttccac cctggtaaga aggtctggaa
     4261 gacaggtcct aacgaggggt cagagaaggc acagagaaat gaaccagcca tgcaggggca
     4321 gcactgagga ggaaaccccc cactctaact gggaggagag tggaaacact cttagtatct
     4381 cagagtagtt accaatctaa gagcatcctt cgagtttaag tcaaaactct aggcttaata
     4441 ccaaaaataa tacatcattt ggaaaaatag cttggagaaa aaaaatcaat aaagagtcac
     4501 ataaaatctt aagaaaatgg ttctattctg tgatatatta ctaagaaata cagttcttaa
     4561 acgtgtataa ctattgtcag acaatttata ggtgtttcat ctagtcctgg gatgaaatac
     4621 gatgactcat gcaaattcag ggagcacact ggctgacttt aaattggaac attgtaaagt
     4681 gaaagctgtg aaaggttgtg tgtcctatca atgagattta ttttctaacc aagagctgtt
     4741 cggatgattc agtataaata cgaaaatcac atccaaaaac ggtataaccc agcttcctta
     4801 aggcaatttt cttctctgaa acaagaatat actcatatgt tctttactat aatgtatatg
     4861 atttttatct tgtactttaa aagatgataa ttatgcattg tatatacgat tgtgtgcctt
     4921 gcaataaaat caaaactgta cctgctgaaa atca
//
LOCUS       NM_000914              15143 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens opioid receptor mu 1 (OPRM1), transcript variant MOR-1,
            mRNA.
ACCESSION   NM_000914
VERSION     NM_000914.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 15143)
  AUTHORS   Ochandarena NE, Niehaus JK, Tassou A and Scherrer G.
  TITLE     Cell-type specific molecular architecture for mu opioid receptor
            function in pain and addiction circuits
  JOURNAL   Neuropharmacology 238, 109597 (2023)
   PUBMED   37271281
  REMARK    GeneRIF: Cell-type specific molecular architecture for mu opioid
            receptor function in pain and addiction circuits. Review article
REFERENCE   2  (bases 1 to 15143)
  AUTHORS   Salimando GJ, Tremblay S, Kimmey BA, Li J, Rogers SA, Wojick JA,
            McCall NM, Wooldridge LM, Rodrigues A, Borner T, Gardiner KL,
            Jayakar SS, Singec I, Woolf CJ, Hayes MR, De Jonghe BC, Bennett FC,
            Bennett ML, Blendy JA, Platt ML, Creasy KT, Renthal WR, Ramakrishnan
            C, Deisseroth K and Corder G.
  TITLE     Human OPRM1 and murine Oprm1 promoter driven viral constructs for
            genetic access to mu-opioidergic cell types
  JOURNAL   Nat Commun 14 (1), 5632 (2023)
   PUBMED   37704594
  REMARK    GeneRIF: Human OPRM1 and murine Oprm1 promoter driven viral
            constructs for genetic access to mu-opioidergic cell types.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 15143)
  AUTHORS   Zhou Y, Cao L, Yang Y, Gao Y, Li Y, Wang B, Pan B, Huang J and Guo
            W.
  TITLE     Is OPRM1 genotype a valuable predictor of VAS in patients undergoing
            laparoscopic radical resection of colorectal cancer with fentanyl?
  JOURNAL   BMC Anesthesiol 23 (1), 173 (2023)
   PUBMED   37217861
  REMARK    GeneRIF: Is OPRM1 genotype a valuable predictor of VAS in patients
            undergoing laparoscopic radical resection of colorectal cancer with
            fentanyl? Publication Status: Online-Only
REFERENCE   4  (bases 1 to 15143)
  AUTHORS   Andersen S, Baar C, Fladvad T, Laugsand EA and Skorpen F.
  TITLE     The N-terminally truncated micro3 and micro3-like opioid receptors
            are transcribed from a novel promoter upstream of exon 2 in the
            human OPRM1 gene
  JOURNAL   PLoS One 8 (8), e71024 (2013)
   PUBMED   23951073
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 15143)
  AUTHORS   Kasai S and Ikeda K.
  TITLE     Pharmacogenomics of the human micro-opioid receptor
  JOURNAL   Pharmacogenomics 12 (9), 1305-1320 (2011)
   PUBMED   21919606
  REMARK    GeneRIF: this article summarizes the genetic variations in the human
            OPRM1 gene, which are analyzed with regard to pain sensitivity,
            opioid drug sensitivity and susceptibility to drug dependence, and
            other disorders.[Review] Review article
REFERENCE   6  (bases 1 to 15143)
  AUTHORS   Song KY, Kim CS, Hwang CK, Choi HS, Law PY, Wei LN and Loh HH.
  TITLE     uAUG-mediated translational initiations are responsible for human mu
            opioid receptor gene expression
  JOURNAL   J Cell Mol Med 14 (5), 1113-1124 (2010)
   PUBMED   19438807
  REMARK    GeneRIF: These results indicate that re-initiation in MOR gene
            expression could play an important role in OPRM1 regulation.
REFERENCE   7  (bases 1 to 15143)
  AUTHORS   Xu J, Xu M, Hurd YL, Pasternak GW and Pan YX.
  TITLE     Isolation and characterization of new exon 11-associated N-terminal
            splice variants of the human mu opioid receptor gene
  JOURNAL   J Neurochem 108 (4), 962-972 (2009)
   PUBMED   19077058
REFERENCE   8  (bases 1 to 15143)
  AUTHORS   Chuang TK, Killam KF Jr, Chuang LF, Kung HF, Sheng WS, Chao CC, Yu L
            and Chuang RY.
  TITLE     Mu opioid receptor gene expression in immune cells
  JOURNAL   Biochem Biophys Res Commun 216 (3), 922-930 (1995)
   PUBMED   7488213
REFERENCE   9  (bases 1 to 15143)
  AUTHORS   Mestek A, Hurley JH, Bye LS, Campbell AD, Chen Y, Tian M, Liu J,
            Schulman H and Yu L.
  TITLE     The human mu opioid receptor: modulation of functional
            desensitization by calcium/calmodulin-dependent protein kinase and
            protein kinase C
  JOURNAL   J Neurosci 15 (3 Pt 2), 2396-2406 (1995)
   PUBMED   7891175
REFERENCE   10  (bases 1 to 15143)
  AUTHORS   Maneckjee R and Minna JD.
  TITLE     Opioid and nicotine receptors affect growth regulation of human lung
            cancer cell lines
  JOURNAL   Proc Natl Acad Sci U S A 87 (9), 3294-3298 (1990)
   PUBMED   2159143
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L25119.1, FJ041291.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145544,
            SAMN03267759 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: community standard (PMID:
            21919606)
            MANE Ensembl match :: ENST00000330432.12/ ENSP00000328264.7
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            regulatory uORF                  :: PMID: 19438807
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136444.16 and AL132774.20.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 15, 2020 this sequence version replaced NM_000914.4.
            Summary: This gene encodes one of at least three opioid receptors
            in humans; the mu opioid receptor (MOR). The MOR is the principal
            target of endogenous opioid peptides and opioid analgesic agents
            such as beta-endorphin and enkephalins. The MOR also has an
            important role in dependence to other drugs of abuse, such as
            nicotine, cocaine, and alcohol via its modulation of the dopamine
            system. The NM_001008503.2:c.118A>G allele has been associated with
            opioid and alcohol addiction and variations in pain sensitivity but
            evidence for it having a causal role is conflicting. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. Though the canonical MOR belongs to the superfamily of
            7-transmembrane-spanning G-protein-coupled receptors some isoforms
            of this gene have only 6 transmembrane domains. [provided by
            RefSeq, Oct 2013].
            Sequence Note:.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..15143
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.2"
     gene            1..15143
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="opioid receptor mu 1"
                     /db_xref="GeneID:4988"
                     /db_xref="HGNC:HGNC:8156"
                     /db_xref="MIM:600018"
     regulatory      30..83
                     /regulatory_class="uORF"
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:19438807]"
                     /note="this uORF is predicted to encode a 17 aa peptide
                     (PMID:19438807)"
     regulatory      70..153
                     /regulatory_class="uORF"
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:19438807]"
                     /note="this uORF is predicted to encode a 27 aa peptide
                     (PMID:19438807)"
     misc_feature    81..83
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="upstream in-frame stop codon"
     misc_feature    120..122
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MSDAQLGPLRLTLLSVSARTGFCKKQQELWQRRKEAAEALGTRKVSVLLATSHSGARP
                     AVST"
     regulatory      127..153
                     /regulatory_class="uORF"
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:19438807]"
                     /note="this uORF is predicted to encode an 8 aa peptide
                     (PMID:19438807)"
     CDS             306..1508
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="isoform MOR-1 is encoded by transcript variant
                     MOR-1; mu opiate receptor; mu opioid receptor hMOR-1a"
                     /codon_start=1
                     /product="mu-type opioid receptor isoform MOR-1"
                     /protein_id="NP_000905.3"
                     /db_xref="CCDS:CCDS55070.1"
                     /db_xref="GeneID:4988"
                     /db_xref="HGNC:HGNC:8156"
                     /db_xref="MIM:600018"
                     /translation="MDSSAAPTNASNCTDALAYSSCSPAPSPGSWVNLSHLDGNLSDPC
                     GPNRTDLGGRDSLCPPTGSPSMITAITIMALYSIVCVVGLFGNFLVMYVIVRYTKMKTA
                     TNIYIFNLALADALATSTLPFQSVNYLMGTWPFGTILCKIVISIDYYNMFTSIFTLCTM
                     SVDRYIAVCHPVKALDFRTPRNAKIINVCNWILSSAIGLPVMFMATTKYRQGSIDCTLT
                     FSHPTWYWENLLKICVFIFAFIMPVLIITVCYGLMILRLKSVRMLSGSKEKDRNLRRIT
                     RMVLVVVAVFIVCWTPIHIYVIIKALVTIPETTFQTVSWHFCIALGYTNSCLNPVLYAF
                     LDENFKRCFREFCIPTSSNIEQQNSTRIRQNTRDHPSTANTVDRTNHQLENLEAETAPL
                     P"
     misc_feature    330..332
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35372.2); glycosylation site"
     misc_feature    339..341
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35372.2); glycosylation site"
     misc_feature    402..404
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35372.2); glycosylation site"
     misc_feature    423..425
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35372.2); glycosylation site"
     misc_feature    447..449
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35372.2); glycosylation site"
     misc_feature    510..584
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="propagated from UniProtKB/Swiss-Prot (P35372.2);
                     transmembrane region"
     misc_feature    624..698
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="propagated from UniProtKB/Swiss-Prot (P35372.2);
                     transmembrane region"
     misc_feature    732..800
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="propagated from UniProtKB/Swiss-Prot (P35372.2);
                     transmembrane region"
     misc_feature    807..809
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P33535; propagated from
                     UniProtKB/Swiss-Prot (P35372.2); phosphorylation site"
     misc_feature    861..926
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="propagated from UniProtKB/Swiss-Prot (P35372.2);
                     transmembrane region"
     misc_feature    996..1070
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="propagated from UniProtKB/Swiss-Prot (P35372.2);
                     transmembrane region"
     misc_feature    1143..1223
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="propagated from UniProtKB/Swiss-Prot (P35372.2);
                     transmembrane region"
     misc_feature    1248..1319
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="propagated from UniProtKB/Swiss-Prot (P35372.2);
                     transmembrane region"
     misc_feature    1305..1319
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="propagated from UniProtKB/Swiss-Prot (P35372.2);
                     Region: NPxxY, plays a role in stabilizing the activated
                     conformation of the receptor.
                     /evidence=ECO:0000250|UniProtKB:P42866"
     misc_feature    1398..1400
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P42866; propagated from
                     UniProtKB/Swiss-Prot (P35372.2); phosphorylation site"
     misc_feature    1419..1421
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P33535; propagated from
                     UniProtKB/Swiss-Prot (P35372.2); phosphorylation site"
     misc_feature    1434..1436
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P33535; propagated from
                     UniProtKB/Swiss-Prot (P35372.2); phosphorylation site"
     misc_feature    1491..1493
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P33535; propagated from
                     UniProtKB/Swiss-Prot (P35372.2); phosphorylation site"
     regulatory      15120..15125
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="hexamer: AATAAA"
     polyA_site      15143
                     /gene="OPRM1"
                     /gene_synonym="LMOR; M-OR-1; MOP; MOR; MOR1; OPRM"
                     /note="major polyA site"
ORIGIN
        1 ctccctccct tccagcctcc gaatcccgca tggcccacgc tcccctcctg cagcggtgcg
       61 gggcaggtga tgagcctctg tgaactacta aggtgggagg gggctatacg cagaggagaa
      121 tgtcagatgc tcagctcggt cccctccgcc tgacgctcct ctctgtctca gccaggactg
      181 gtttctgtaa gaaacagcag gagctgtggc agcggcgaaa ggaagcggct gaggcgcttg
      241 gaacccgaaa agtctcggtg ctcctggcta cctcgcacag cggtgcccgc ccggccgtca
      301 gtaccatgga cagcagcgct gcccccacga acgccagcaa ttgcactgat gccttggcgt
      361 actcaagttg ctccccagca cccagccccg gttcctgggt caacttgtcc cacttagatg
      421 gcaacctgtc cgacccatgc ggtccgaacc gcaccgacct gggcgggaga gacagcctgt
      481 gccctccgac cggcagtccc tccatgatca cggccatcac gatcatggcc ctctactcca
      541 tcgtgtgcgt ggtggggctc ttcggaaact tcctggtcat gtatgtgatt gtcagataca
      601 ccaagatgaa gactgccacc aacatctaca ttttcaacct tgctctggca gatgccttag
      661 ccaccagtac cctgcccttc cagagtgtga attacctaat gggaacatgg ccatttggaa
      721 ccatcctttg caagatagtg atctccatag attactataa catgttcacc agcatattca
      781 ccctctgcac catgagtgtt gatcgataca ttgcagtctg ccaccctgtc aaggccttag
      841 atttccgtac tccccgaaat gccaaaatta tcaatgtctg caactggatc ctctcttcag
      901 ccattggtct tcctgtaatg ttcatggcta caacaaaata caggcaaggt tccatagatt
      961 gtacactaac attctctcat ccaacctggt actgggaaaa cctgctgaag atctgtgttt
     1021 tcatcttcgc cttcattatg ccagtgctca tcattaccgt gtgctatgga ctgatgatct
     1081 tgcgcctcaa gagtgtccgc atgctctctg gctccaaaga aaaggacagg aatcttcgaa
     1141 ggatcaccag gatggtgctg gtggtggtgg ctgtgttcat cgtctgctgg actcccattc
     1201 acatttacgt catcattaaa gccttggtta caatcccaga aactacgttc cagactgttt
     1261 cttggcactt ctgcattgct ctaggttaca caaacagctg cctcaaccca gtcctttatg
     1321 catttctgga tgaaaacttc aaacgatgct tcagagagtt ctgtatccca acctcttcca
     1381 acattgagca acaaaactcc actcgaattc gtcagaacac tagagaccac ccctccacgg
     1441 ccaatacagt ggatagaact aatcatcagc tagaaaatct ggaagcagaa actgctccgt
     1501 tgccctaaca gggtctcatg ccattccgac cttcaccaag cttagaagcc accatgtatg
     1561 tggaagcagg ttgcttcaag aatgtgtagg aggctctaat tctctaggaa agtgcctgct
     1621 tttaggtcat ccaacctctt tcctctctgg ccactctgct ctgcacatta gagggacagc
     1681 caaaagtaag tggagcattt ggaaggaaag gaatatacca caccgaggag tccagtttgt
     1741 gcaagacacc cagtggaacc aaaacccatc gtggtatgtg aattgaagtc atcataaaag
     1801 gtgacccttc tgtctgtaag attttatttt caagcaaata tttatgacct caacaaagaa
     1861 gaaccatctt ttgttaagtt caccgtagta acacataaag taaatgctac ctctgatcaa
     1921 agcaccttga atggaaggtc cgagtctttt tagtgttttg caagggaatg aatccattat
     1981 tctattttag acttttaact tcaccttaaa attagcatct ggctaaggca tcattttcac
     2041 ctccatttct tggttttgta ttgtttaaaa aaataacatc tctttcatct agctccataa
     2101 ttgcaaggga agagattagc atgaaaggta atctgaaaca cagtcatgtg tcagctgtag
     2161 aaaggttgat tctcatgcac tgcaaatact tccaaagagt catcatgggg gatttttcat
     2221 tcttaggctt tcagtggttt gttcctcagt tttaaatgtg caattttctt gctcctattt
     2281 aagtgttcac aaaaggtaat agtcaatgag ctcatcactt catccatgca ggaagtcaag
     2341 cattaaaatg tactctttat ttctcactgg tttctccata ctgcaggctc cccacatatt
     2401 attttctttt tttaactcag ctcagaatcc ttatgccttt tgaatcagtg tgataaaatg
     2461 acagatgttt ttgttgattg ccagaacagt ttaaactttt tttaaacaat aaatccaata
     2521 aacataatct caagacagac tcatatgacc atacagaaaa gtgtgtcatc tatttttcaa
     2581 tcctgtgtag ttacttggat gtgaaatatt aacaatggcc caaaaatatt ttcctgaaga
     2641 ttgtgtttat ataatgtcat caccaatatt ttggtctttt tgatctctgc taaatgtcaa
     2701 gatttccttt gtaaagtgtc gatcttctaa gtagtttctt taagacaatt ctccgcttta
     2761 actgattttc tttgttgtga aacacagtag agatttggca atcaaccatt ttacttgatc
     2821 taggtagaca gccaagtcag atggcccatg cctagaagct ctccattttg aacttttgtc
     2881 agcattgatt aaaagaatca aataccttgt agttatctat gatgatacaa gtaaaaaact
     2941 aggctgctga cttctgagta ttcctgagcc tacaattgta aaattgtaga ctccattgta
     3001 aaatttgtat tttttcatca atctgacaag gcacaaatat gtgccagata tacaaaagca
     3061 atgtttctag aaaacagcta tcatggatca gaataactga atttactctc agatctattg
     3121 gctatagtta tgtggactca acccacgtat ccagtagatg ggaaaaaaca aaagccaaaa
     3181 taagtttttt agtgtttcct tctgatgaag tttcatgttt gcttgtaata atctccattt
     3241 ctcaaatatt atgttccata atagacatac attatgttta attttttata ttttctgaca
     3301 aaagtaacta aaactaggac cttaaaaaga tttagaatgt taaataagtg tactagggtg
     3361 tatatattta catatataca ctactagagc ttccaaaagt aaaatggata attcaaacag
     3421 aacacaatgt aatatttgta tgtaaataac tgaggaggaa aatccatgct tttcatgggc
     3481 taggatggtt tctcccaaga gatgacatag tattgctttt gctcatcagg ctgtttctca
     3541 gcaatcattg tttctgctta ataccagctc ctagtacgaa ttatctggca tgttgagagc
     3601 aactttgtct tcaagtagga cctgatctat ctttttccac aaatgtcatg tgtgtgaaca
     3661 agtttcttcc atgtcatctt tgagactcta cacagaatac acaataaagg gagttatttt
     3721 taaaataaga cattctaaag taaataataa ataaggtcat tgtcaacgtt tttcattcaa
     3781 aaccattttt taacgtaaat ttgctagaac caccttccaa ttccaaggca aggagagaca
     3841 ttacaaccct gactcaactg gatgggctaa ggtttctgat aaaatctgaa gataaagaaa
     3901 atggaatatt ctgctttttt cttccttcta atttcaccct tgcctaagga tgagatttct
     3961 tcccaggttg gtatcccaga aatgcagact gtagctatgg ggcggaagct ttgtttcttt
     4021 acctgatcac ttgctgtgga aattctagct tattgtgttc caagtagtta gtggtttttc
     4081 tccttcagtc tccactgtta ttttgctcct tcatccctct ttccttgcca atcattagaa
     4141 aggaaagaag aggaaagaga ctcgctggag cactggtgag tctctaggac cctgctatcc
     4201 tatcccaaca gggctgtcag acggagaact cctaatgtgg ccatttgaaa cacttctcaa
     4261 cattgaaata gacagttgaa gttttaaaat aacctcttct aagacacggc tatgagtagg
     4321 taagagagca ttcattccct tcaataatat gactgtgttg ataaaactga taaccattca
     4381 cttgcaaatg ttattattga ataagtctca cttagctcat ttaatattac ccaaaagatg
     4441 ctaacaaatt ctgtttccca cattgtcaca gcatgccctt tacatctcag gatccaggca
     4501 aaagttgaaa ttcagaaaca tagatatgaa atgtaagata caaagaaaac acctctgcaa
     4561 agattccgac cacatttatc aaaaagtccc caaagcattc aaaatcttta cttaagtcaa
     4621 gtctatttat acgtttaaaa gctaaaaaca agatcttttt ggtaatgctt caattaaatg
     4681 ttttatctaa atatgtggaa atgataagat gcgtactgca tctctcatat aataaagata
     4741 atcagtttta tacagacata ttctccatct actggcaatt accaagataa gatggcacta
     4801 gaaatttctc cagcttacgc catgaatact gcagaagctg atactatccg ttgtggtttt
     4861 acaaattcta gagggttcta gccaaagcaa cctaagaata ggacatggta gcttaagttt
     4921 ttcagcttct taactggcca cacacacaca agttgtgttt gtacaattct tgaggtcaat
     4981 cagaaccaaa aaatctgttg ctggaagaaa tattatcctc ttcatagaaa tatccaccag
     5041 cagaaaattg gtttctcaag gaatccctac tgcccttgta gaaacatcaa gattcttgcc
     5101 tggattctca acataagtct ttactcacag gcctattgct tggtttcaga agagtgagaa
     5161 catgaaagtt cataaatgcc tgggccactg caactctaac cactgtgttt cccccagttt
     5221 gatatggttc aggatacata gtcatagaac agggcatgca gattgtattt aagaccactg
     5281 caagtaaggt ctaaggcaaa agtaaattaa tgagtccaac tctggggcat ccatttaaga
     5341 gccatttaat ccatttaatt acaaataatt tcaacccata gtcagtgttc ttcactgtct
     5401 tcaaaaatat aaaaagtaca aggaattgtg tacattacaa actgctccag aaacaaaacc
     5461 aaatgtggat agctttgtga gctgcagtgt gtggcaaatg ttcaaccttt tgttatgcaa
     5521 tatcacccat atcaaatacc attcttaaag cagtagacag atgagtcaag ttcaatttaa
     5581 tgcaaacaat attactgtgt tctaagcgct tctgttactc gaaaggggtc tgatccagac
     5641 cccaaaagag ggttcttgga cctcatgcaa gaaagaattc aggagtaaag tgaaagtgaa
     5701 atgggtcagg atcaatggtc tcattgtcta aggtgttatc cgagctcgtt gtctcacaac
     5761 caagaaaatt aaggagcatg gacacaaagg gtgaggttgg agcaaaagtt taataagcaa
     5821 aagaggaaag ctctctgcag cagagacggg agcccaagtg ggttgctgtt tttacagctg
     5881 aatccaaaag cttttataag aaactcctct catctctgca gctatttgag taacttctct
     5941 tatctgaaaa gctgtctgta caactgcctc tatctatgca gctatggggt gtctctaggc
     6001 gagcacaaag catagcttct cttgttgtat aattgtgggt ttgttttaag taagccactt
     6061 tcctccctgc aagttcccac ggagcagaaa aaaggaggaa actttttcct gggagcccac
     6121 taatcacaca gtgaacaaaa ggcttctatg ctgggcctta ctttctaaca gtgcagcagt
     6181 tatagtctga gttttctcca ggctgctcca tttttgcctg tagctatgat ttttcaggca
     6241 gcctgcttct ccgaggacta gtcttagctg tttacctaac tgattggtcc ttttcttctc
     6301 cctgaaaagc aagtttatta agaaagcaaa ggaataaaga atggctactc cataggcagc
     6361 gtagccccaa gggctgctgg ttggctattt ttgtggttat ttcttgatta tatgctaaac
     6421 aaggggtgga ttattcatgg gttttctggg aaaggagtgg gcaattccca gaactgaggg
     6481 ttcttcccct tttaagaccg catagggcaa cttcctgaca ttgccatggc atttgtaaac
     6541 tgtcgtggta ctggtgggaa tgttttttag catgctaatg caatataatt agtgtataat
     6601 gagtagtgag gacaaccaga ggtaactttc attgccatct tggttttagt ggggtttggc
     6661 cggcttcttt accacatcct tttatcagta agatcttcgt gacctgtacc ttgtgccaac
     6721 ctcctatctc ttcctgtgac ttggaatgcc taacctcctg ggaatgcagc ccagtaggtc
     6781 tcagccttat tttacccagc ctctattcaa gatggagtcg ctctggttca aacacctctg
     6841 acacttgaat tacaaatata aggaccattg acactgagat tttaagggag gaaaaacaga
     6901 ttgacagtgg actaaaggta cttttgtagc aaggtacttt ccacacaata ttgaataaat
     6961 gcagtgtata catttttaaa ggaattttaa gagctcggaa atcattaaaa ttaagtttat
     7021 caatttttga aagcatcttc tgactcaaat atatgaaaag attattctag accttaggca
     7081 gatattcaga gaaagatcag ttttctatgg gttttttcca tcatgcattt tatacaaatt
     7141 taatatactt tttcaactca ctttgcattt cctgttacct tgtactgaga acttcattaa
     7201 aacctgcact tgaaattgca cttaaacttt acaaaatcac agaagaagtt gttttccata
     7261 ggtgtggggt gggatgttag agctctagac attaattcct aggaatcgca tacctacgga
     7321 aaacagtcct ctgacctcct gtgacacatg gggtgagccc ttcctttttg tctcaatctc
     7381 aaaaaacagt aagtctttaa tccatttgca tcaaaaagta cttcatatgc tcgaaactaa
     7441 agtaaaactt tattgaaata cattaatatg ctcctggaac atactactgg gtctcagaca
     7501 gtgcagaagc tttattgttt atttgggaag agcaaggtaa gaatcaagta gaaatgataa
     7561 agggcaagga aaaaagatga aagcttactc atattaacca ttctaccatt ggaattattt
     7621 gccaacacac cttgctgcta cttagagaaa gtagttcacc tcactacctt ttatccaaag
     7681 aaattatctc taaaagcact cagacatttt gtagagcaag tagcaatcta ttcaaagttg
     7741 taaaggttct gtagaatctc tcagaccagg tacaggacct accaaaggcc acagccaagc
     7801 acaagcagct acattagaca gttttacagc tctgtatttc aggaaaactt ctgtcctgtg
     7861 ggagcaatac aaaactatac cagttttttg ttagtgtaaa aattgcccaa tattaaccag
     7921 agcagcccaa aatatttcag ggtaagaata gatatattta tatttttcag atgatatatc
     7981 ttcattttcg attttgaaag aacagtaata ctaattatat cccatgtaag gggctactga
     8041 caattttgat ggtacctgaa tttgcctcta tcatgcatct caatgatttg ttgtcatcca
     8101 aagctatttc atgaatcaaa tatcgttttc tacctgcccc acaactgtgt acataaaacc
     8161 taaacctctg aagcaataaa cctcttccat tacacaggtt tagattcaga gttttcttgc
     8221 ttaagttcca actaaaagta ttacattctt agcataagta tactcataaa gaaaaataag
     8281 tatttgtttt aggttttaga gagagagcac agagtccctt tgagacagtg gggaaaattc
     8341 atcttcatat tgtcacatgc actgtaatag gaatgtttag caaaaaaaac cttccagaga
     8401 aaggtggttt ccaatattac ctacaacttc ctttgcaatt tgatttttga aaggacctaa
     8461 aagttgaaaa caggctatca catcccattt gctttaaagt ctcttaaact tacgctcttt
     8521 cgcttcaaat gcataaatgt tttatttaag tttgcattgc ccactaaggc tagacatttt
     8581 tttttttttt tttttttttt tttttttgag acagagtctc gctctgtcgc ccaggctgga
     8641 gtacagtggc gggatctcgg ctcactgcaa gctccgcctc ccgggttcac gccattctcc
     8701 tgcctcagcc tcccaagtag ctgggactac aggcgcccgc cactacgccc ggctaatttt
     8761 ttgtattttt agtagagacg gggtttcacc gttttagccg ggatgatctc gatctcctga
     8821 cctcgtgatc cgcccgcctc ggcctcccaa agtgctggga ttacaggcgt gagccaccgc
     8881 gcccggcccg gctagacatt ttttgataaa ttcacagggt tacaaaatac caaacggaaa
     8941 tgagataagt ggtataaacc acagaagata taggagaaga gaaaaaaaaa agaggaaata
     9001 aagaagacaa ctcttttcct aagagtctgg gtaaaattga acatagccat attcactgaa
     9061 caacatgagt gagcttcatt aatttaagca cagcaaaact gctttaatta acaagaccag
     9121 agagaaggga gaggagacta catttgtgtg acctaatggt tgtgatttca ctgtccaaga
     9181 ggacaaagac aaagaaattc tgggaaggag aacaacaatt atattccccc atttcaagaa
     9241 gggcagaagt gtcccaacac tacccaatat ttgcaaaatt caaatgtctc ataggctctt
     9301 cttccctggt tccctcagga gctgggtttc tgggttgcag aagtgctttt catattctgt
     9361 atctggttgt ggtggcaatg tcaccaccct acactgctgt gacaccgaaa caaccaagcc
     9421 tagaatcagc tggtgcctct tttcatctgc agggtagatt tggcttccat ggttgttcac
     9481 tgctctgtgt taggaaggct cagtgacagg tgtacagcct tcagtaatgc ctcaaaggtt
     9541 ctccaagcag aggtaaacat gtgggtcctg ctggtgacat attagacttc ttactttccc
     9601 caaataaaaa agtgcctgct gggcgcggtg gctcacgcct gtaattccag cactttggga
     9661 ggccgaggcg ggcggaacac aaggtcagga gatcaagacc atcctggcca atatggtaaa
     9721 accccatctc tactaaaaat acaaaattag gaaggcgtgg tggtgcacgc ctgtaatccc
     9781 agctagtcgg gaggctgagg caggagaatt gcttgaactg gggaggcgga agttgcagtg
     9841 agccaagatc gcagcattgc actccagcct gggcaacaga atgagattgt ctcaaaaaaa
     9901 aaaaaaagtg ccacatgcca tgctatgtgc ccaaagtttc cttcacacaa cacagccttg
     9961 agatgcagta ttaaattcta cacttttcct accatagtga tacatgtggc ttttctttgc
    10021 tgtgttctga gatgtcatgc tttgaaatca gtggccatta tcatctaagg attccgccag
    10081 agacttccaa aagaagaggt ctcatttata aagtgaattt gaataaaatg accagttagg
    10141 tgttttcaga aacacctatg ccctacttgc ctactcttca agggtttagg ggcttagggg
    10201 gaggttttgt ttgggttttt tgttgctgtt gcttgtttat ttgtttgttg tgtttaagac
    10261 gttttacttg tccctgaaat gtttgtcatc acacagatac acgctcagga taagaactac
    10321 cagactagat taggaggtcc acaccaccaa ttgagatgta cctgtgctca tgacttgaca
    10381 ttgtggtggg ccggctacaa ccctccccac ccctcgcttt cactaaataa caactctctt
    10441 ctctccatca ttttgactta gagccagtca gaattcaatc tccaatatcc tgactagcac
    10501 aagaaatcca taggttgatt cttgttctcc tgcatctctg caggtggcaa acctgattcc
    10561 taatgcctgt tcctgcctct gcaggggttc attcagaaaa caggaaaata acaaaggctt
    10621 cctgtaattc tctttggctg taatacaatt tgttcccgtc tgcccccagg ctcacccagt
    10681 gctctgtctc agtggtaagc tgtaactgat cactgctgta ttaactcaaa actcatttgc
    10741 tttatggaaa ttcatggccc ttatttctca agggaccaga gaaaaccaat aggcctactc
    10801 cccagctgag tactttccat gcaagctacc gcatctgtat aaattaggtt caaataacag
    10861 agtatttcca ggatttataa attcagtatt acaaatagta atctggcaag tgttctcagg
    10921 atccccttgc tacctgtaat tcaatcatat aacttctgaa tgggctgggg gaaaataaca
    10981 ataagaaaaa ctggtgttta cctgaagatc tgcccagtga tttgtgtgtt ttcttaataa
    11041 actttaccca cttattaaaa gaataaaatg aaggtggagt taattctgac tacgggattc
    11101 ctttttcact tttataatga actccttcct tctaactaaa tcttatcata agcaaatcta
    11161 tgcaccaaat tatttagtac aattcctaat aacagctgaa ggaccattta tttgaagcaa
    11221 tgttcaccat agcaaaattc cagtgaagtc taagaactgg gacagtccgt tgaggatcct
    11281 tgtgccagga tgtatgttgc cccatgaatg tgcacatgca tattaaaata tgggcacctc
    11341 ttttaattct tttttttctc ataataagtt tgaaactcac agtaggaaat tgagagatca
    11401 atttggttac tgttttatca ttgatcctga agacagttga agcaatcata ctggttgttc
    11461 tcgaactagc tggtttccca gagacagctg gagactgagc acataaagac atcattgagg
    11521 aaaaaggcta ccttgtacct catggagagc tgaaggtctg ataaatggga actgccaggt
    11581 aatagctatg ctatttctga cataaattta aaaactagta ttgtttcttc tagctctgtt
    11641 tttgcatagt gcacagagat ctttgtaaaa aacaggaaat taatgttaaa ttggatctat
    11701 aaacataagt caatttggct ctattatgtc aaaagagaat aggagtttta acttatatct
    11761 gtgttttatt aatattttga agtataggaa cctcatggtg tagcaggatg agccacagac
    11821 aaaacctctc agacaccgag ttgtagaagg aagggcttta ttcagctggg agcatcgacc
    11881 agctactgtc tcaaaatcca agctccctga gtacacaatt tctgtccctt ttaagggctc
    11941 acaacactag atttcacatg aaagggtcgt gattgatttg agcaagcaag gggtatgtga
    12001 caggggctgc atgcaccggt ggtctgggag gaacagaaca ggacagggag ttcttctata
    12061 caatagagaa cagaacaatg ttcttctata caatgtaagg aatctatgaa taacatcggc
    12121 ttctaaatca taagttgatt tttaactact gggtttaggc caggcgggcc caggcctggt
    12181 ttcgggcctg gcgctgagct gcctgtattt ggttttactt ccttgttgtt tttactgaat
    12241 atgaaacaat ataaaacaat gtgagagggt ctttctctcc tctcaatgtc aacatcatat
    12301 atgattggag acttccacat aattgagttt tagtgcccac tgttacagaa aatcataatg
    12361 gaaaaactaa aatgtcaata ataatttcag atgtgtattt tagttctcat aagaacatct
    12421 acattcattt gaaaaatagt tctatatcta ttcttgaaac atatttcttt agttcaaggt
    12481 ctgatgagct cccagactgt tggggattgc tctacagctg ctcaagcttt tgaagactcc
    12541 tgtgattttt ttaaatggct ggtttggttg aagtttctct tatcagtcag gcactttgca
    12601 ttttaagcgt actttaccac cgacaccctc cccccccagc acacacacac acacacacac
    12661 acacacacac acaacatagt gaaatggacc cgtgggaatt atatgatagt tgtaatcaaa
    12721 ataaaatgca atcaatacta aaatacaatt taccaaaggc ttacctcctt atttgaaact
    12781 ccagcatcaa taatttactt gcactcttgt tatttacatt tgtactctgg aagtaaactt
    12841 aaaatgaaaa ttagaatttg ctttcaatta tactatctct atctaaatct taatttgaaa
    12901 tttaaattat tttgtctcta cccaaaccat cgatttcatg gaaatgttta aattttcttt
    12961 tttttttttt tttttgatgg agtctcactc tgtcgcccag gctggagtgc agtggctcaa
    13021 tcttggctca ctgcaacctc tgcctcccgg gttcacacca ttctcctgct tcagcctcct
    13081 gagtagctgg gactacaggt gcccgccaca acacctggct aattttttgt atttttagta
    13141 gagatggggt ttcaccacgt tagccaggat ggtttcgatc tcctgacctc gtgatctgcc
    13201 tgcctcggcc tcccaaagtg ttgggattac aggtgtgagc cactgcgcct ggccagaaat
    13261 gtttaaaatt tcataaatct tgaatccata aaattcaatg ctaccattta taatttaata
    13321 ctcctaccat aaaaatttct gtgttaggca tagctatatg aatatttgcc tataaatccc
    13381 catcaattta ataggaatta agttagaaat actagtatat atattccctt tatatactaa
    13441 ttgtatatcc atataaaagc attagtacca ttatatgaaa gtatatatgc cattccataa
    13501 aaatatatct accaatataa atagaatata taaagggaat atatatatac caatataaat
    13561 gggaatttat attggcacat acatttccat tattttaatg ggaattaaag aaaaaatgcc
    13621 tgttttcact aagtcatcct tcccctggca atacatttcc tgaactttta catacttaaa
    13681 tagccagtta tgaaaatgta aaacaatgag tgatcttgtt gttttcattt tattatgtta
    13741 tatgaaaaaa agaaaccttg taagtgcaga tttattttaa aaaattgaaa aactactctg
    13801 tcaaacatag caaataggaa agttaaaaaa aagtaagtct aaagattagg tgctctgtca
    13861 cttgtcatta cattttttta taacattaat gacacatttt ttgctatcca aatataattt
    13921 ccactagaaa agaaaagatg tcctccatgt tttaaattgc atttgaaatt caggtaacta
    13981 ataacccttg gttttaaaag atacatataa tgtttccgta ggaaaaaaat caaaatattg
    14041 taaagaatct gagtaaatga gagcctctca tggttgatta agttcagaca ttttaaacag
    14101 actcctgccc acaaactatt tttcctctcc aggaataaga atggcaactg aattgttcct
    14161 tctttattct atagctttaa gtcaaaccta acataagcaa tcaacccttc cacccattgt
    14221 cctctttcta gctgcttata ttcctgagtc tgaaagaagg gcagaattaa ttcgtttcct
    14281 tgacagtgtt gggggtgaaa taaaagatag acccctgctg ctctgcacgt agattcagtt
    14341 tgtatgccag ggtgacattt taatttacag tagtccagac acctaaacag gacatagaaa
    14401 tgtcaactgg tcatattaaa ataaaaaagt atagaatagt ttctgtttta cggattttgt
    14461 atccaagtaa atgaaaacac aatcaccttt caaaacatgg tatgaaatcc acagttgtaa
    14521 cagtgagcac aacatgcttt ctgtgtgtgt ttttaagctc tttccccaca tctgcttttc
    14581 aaaaatattt gcctggaaac ctgtatttcg cctatagaga caaatacata tattgtttgt
    14641 tgtgataatg cacaaaaagg aatgttaaaa aaaaacacac aacattgttt tccttttgat
    14701 ggtctgggag tttttctata agtttttggt tttttttttt ttttctcttc attagtgtgt
    14761 tagttccatc atcatgtctg tttactattg aaaaataaat atcttcattt aaagtagaga
    14821 caaagctact atttcacatt tccaggtagg acaggatgat cagatgcagc tttcaaaaga
    14881 actacctgct aaatcataat ggtctcatgt gcagatcaaa atgtcaacta gtatatcaaa
    14941 cagtgagcaa ttcactaaat tatttttaca ttactcctat ttgactgttt cagatagttg
    15001 tatataaaaa atataaattt ttgcattgta ttgttcttga tgtaccagca tacataaaca
    15061 tattaggctg tattgtaagt ttcctgcatg taatatgtaa tgtgtaatta tatgtgataa
    15121 ataaaaccta aaactgatac aaa
//
LOCUS       NM_000915                513 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens oxytocin/neurophysin I prepropeptide (OXT), mRNA.
ACCESSION   NM_000915
VERSION     NM_000915.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 513)
  AUTHORS   Russell J and Hunt GE.
  TITLE     Oxytocin and eating disorders: Knowledge gaps and future directions
  JOURNAL   Psychoneuroendocrinology 154, 106290 (2023)
   PUBMED   37178641
  REMARK    GeneRIF: Oxytocin and eating disorders: Knowledge gaps and future
            directions. Review article
REFERENCE   2  (bases 1 to 513)
  AUTHORS   Roux CH, Rousseau AS, Iannelli A, Gautier N, Ferrero S, Hinault C,
            Chinetti G, Ngueyon-Sime W, Guillemin F and Amri EZ.
  TITLE     The Association between Oxytocin and Lower Limb Osteoarthritis: A
            Prospective Cohort Study
  JOURNAL   Int J Mol Sci 24 (11), 9750 (2023)
   PUBMED   37298701
  REMARK    GeneRIF: The Association between Oxytocin and Lower Limb
            Osteoarthritis: A Prospective Cohort Study. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 513)
  AUTHORS   Mondragon-Ceballos R, Barrios-De Tomasi J and Hernandez-Lopez LE.
  TITLE     [Oxytocin and vasopressin: sexual differences and clinical
            implications]
  JOURNAL   Rev Med Inst Mex Seguro Soc 61 (2), 196-203 (2023)
   PUBMED   37200960
  REMARK    GeneRIF: [Oxytocin and vasopressin: sexual differences and clinical
            implications]. Review article Publication Status: Online-Only
REFERENCE   4  (bases 1 to 513)
  AUTHORS   Wronikowska-Denysiuk O, Mrozek W and Budzynska B.
  TITLE     The Role of Oxytocin and Vasopressin in Drug-Induced
            Reward-Implications for Social and Non-Social Factors
  JOURNAL   Biomolecules 13 (3), 405 (2023)
   PUBMED   36979340
  REMARK    GeneRIF: The Role of Oxytocin and Vasopressin in Drug-Induced
            Reward-Implications for Social and Non-Social Factors. Review
            article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 513)
  AUTHORS   Rao VV, Loffler C, Battey J and Hansmann I.
  TITLE     The human gene for oxytocin-neurophysin I (OXT) is physically mapped
            to chromosome 20p13 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 61 (4), 271-273 (1992)
   PUBMED   1486803
REFERENCE   6  (bases 1 to 513)
  AUTHORS   Ivell R, Furuya K, Brackmann B, Dawood Y and Khan-Dawood F.
  TITLE     Expression of the oxytocin and vasopressin genes in human and baboon
            gonadal tissues
  JOURNAL   Endocrinology 127 (6), 2990-2996 (1990)
   PUBMED   2249637
REFERENCE   7  (bases 1 to 513)
  AUTHORS   Rehbein,M., Hillers,M., Mohr,E., Ivell,R., Morley,S., Schmale,H. and
            Richter,D.
  TITLE     The neurohypophyseal hormones vasopressin and oxytocin. Precursor
            structure, synthesis and regulation
  JOURNAL   Biol Chem Hoppe Seyler 367 (8), 695-704 (1986)
   PUBMED   3768139
REFERENCE   8  (bases 1 to 513)
  AUTHORS   Wood,S.P., Tickle,I.J., Treharne,A.M., Pitts,J.E., Mascarenhas,Y.,
            Li,J.Y., Husain,J., Cooper,S., Blundell,T.L., Hruby,V.J. et al.
  TITLE     Crystal structure analysis of deamino-oxytocin: conformational
            flexibility and receptor binding
  JOURNAL   Science 232 (4750), 633-636 (1986)
   PUBMED   3008332
REFERENCE   9  (bases 1 to 513)
  AUTHORS   Sausville,E., Carney,D. and Battey,J.
  TITLE     The human vasopressin gene is linked to the oxytocin gene and is
            selectively expressed in a cultured lung cancer cell line
  JOURNAL   J Biol Chem 260 (18), 10236-10241 (1985)
   PUBMED   2991279
REFERENCE   10  (bases 1 to 513)
  AUTHORS   Koida,M. and Walter,R.
  TITLE     Post-proline cleaving enzyme. Purification of this endopeptidase by
            affinity chromatography
  JOURNAL   J Biol Chem 251 (23), 7593-7599 (1976)
   PUBMED   12173
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC069144.1, M25650.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145774,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000217386.2/ ENSP00000217386.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC069144.1 and AI185553.1.
            On Nov 22, 2018 this sequence version replaced NM_000915.3.
            Summary: This gene encodes a precursor protein that is processed to
            produce oxytocin and neurophysin I. Oxytocin is a posterior
            pituitary hormone which is synthesized as an inactive precursor in
            the hypothalamus along with its carrier protein neurophysin I.
            Together with neurophysin, it is packaged into neurosecretory
            vesicles and transported axonally to the nerve endings in the
            neurohypophysis, where it is either stored or secreted into the
            bloodstream. The precursor seems to be activated while it is being
            transported along the axon to the posterior pituitary. This hormone
            contracts smooth muscle during parturition and lactation. It is
            also involved in cognition, tolerance, adaptation and complex
            sexual and maternal behaviour, as well as in the regulation of
            water excretion and cardiovascular functions. [provided by RefSeq,
            Dec 2013].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..513
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..513
                     /gene="OXT"
                     /gene_synonym="OT; OT-NPI; OXT-NPI"
                     /note="oxytocin/neurophysin I prepropeptide"
                     /db_xref="GeneID:5020"
                     /db_xref="HGNC:HGNC:8528"
                     /db_xref="MIM:167050"
     CDS             37..414
                     /gene="OXT"
                     /gene_synonym="OT; OT-NPI; OXT-NPI"
                     /note="oxytocin, prepro- (neurophysin I);
                     oxytocin-neurophysin 1; oxytocin-neurophysin I,
                     preproprotein; oxytocin, prepropeptide"
                     /codon_start=1
                     /product="oxytocin-neurophysin 1 preproprotein"
                     /protein_id="NP_000906.1"
                     /db_xref="CCDS:CCDS13044.1"
                     /db_xref="GeneID:5020"
                     /db_xref="HGNC:HGNC:8528"
                     /db_xref="MIM:167050"
                     /translation="MAGPSLACCLLGLLALTSACYIQNCPLGGKRAAPDLDVRKCLPCG
                     PGGKGRCFGPNICCAEELGCFVGTAEALRCQEENYLPSPCQSGQKACGSGGRCAVLGLC
                     CSPDGCHADPACDAEATFSQR"
     sig_peptide     37..93
                     /gene="OXT"
                     /gene_synonym="OT; OT-NPI; OXT-NPI"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     94..120
                     /gene="OXT"
                     /gene_synonym="OT; OT-NPI; OXT-NPI"
                     /product="Oxytocin. /evidence=ECO:0000269|PubMed:13591312.
                     /id=PRO_0000020495"
                     /note="propagated from UniProtKB/Swiss-Prot (P01178.1)"
     misc_feature    118..120
                     /gene="OXT"
                     /gene_synonym="OT; OT-NPI; OXT-NPI"
                     /note="Glycine amide.
                     /evidence=ECO:0000269|PubMed:13591312; propagated from
                     UniProtKB/Swiss-Prot (P01178.1); amidation site"
     mat_peptide     130..411
                     /gene="OXT"
                     /gene_synonym="OT; OT-NPI; OXT-NPI"
                     /product="Neurophysin 1.
                     /evidence=ECO:0000269|PubMed:6574452,
                     ECO:0000269|PubMed:7262323. /id=PRO_0000020496"
                     /note="propagated from UniProtKB/Swiss-Prot (P01178.1)"
     regulatory      490..495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OXT"
                     /gene_synonym="OT; OT-NPI; OXT-NPI"
                     /note="hexamer: AATAAA"
     polyA_site      513
                     /gene="OXT"
                     /gene_synonym="OT; OT-NPI; OXT-NPI"
                     /note="major polyA site"
ORIGIN
        1 accagtcacg gaccctggac ccagcgcacc cgcaccatgg ccggccccag cctcgcttgc
       61 tgtctgctcg gcctcctggc gctgacctcc gcctgctaca tccagaactg ccccctggga
      121 ggcaagaggg ccgcgccgga cctcgacgtg cgcaagtgcc tcccctgcgg ccccgggggc
      181 aaaggccgct gcttcgggcc caatatctgc tgcgcggaag agctgggctg cttcgtgggc
      241 accgccgaag cgctgcgctg ccaggaggag aactacctgc cgtcgccctg ccagtccggc
      301 cagaaggcgt gcgggagcgg gggccgctgc gcggtcttgg gcctctgctg cagcccggac
      361 ggctgccacg ccgaccctgc ctgcgacgcg gaagccacct tctcccagcg ctgaaacttg
      421 atggctccga acaccctcga agcgcgccac tcgcttcccc catagccacc ccagaaatgg
      481 tgaaaataaa ataaagcagg tttttctcct cta
//
LOCUS       NM_000916               4387 bp    mRNA    linear   PRI 13-JUL-2023
DEFINITION  Homo sapiens oxytocin receptor (OXTR), transcript variant 1, mRNA.
ACCESSION   NM_000916
VERSION     NM_000916.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4387)
  AUTHORS   Evenepoel M, Moerkerke M, Daniels N, Chubar V, Claes S, Turner J,
            Vanaudenaerde B, Willems L, Verhaeghe J, Prinsen J, Steyaert J,
            Boets B and Alaerts K.
  TITLE     Endogenous oxytocin levels in children with autism: Associations
            with cortisol levels and oxytocin receptor gene methylation
  JOURNAL   Transl Psychiatry 13 (1), 235 (2023)
   PUBMED   37391413
  REMARK    GeneRIF: Endogenous oxytocin levels in children with autism:
            Associations with cortisol levels and oxytocin receptor gene
            methylation. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4387)
  AUTHORS   Ersig AL, Young EE, Brown RL and Malecki K.
  TITLE     Genetic Variation, Stress, and Physiological Stress Response in
            Adults With Food Allergy or Celiac Disease
  JOURNAL   Biol Res Nurs 25 (2), 300-309 (2023)
   PUBMED   36280595
  REMARK    GeneRIF: Genetic Variation, Stress, and Physiological Stress
            Response in Adults With Food Allergy or Celiac Disease.
REFERENCE   3  (bases 1 to 4387)
  AUTHORS   Amin M, Horst N, Wu R and Gragnoli C.
  TITLE     Oxytocin receptor (OXTR) is a risk gene for polycystic ovarian
            syndrome
  JOURNAL   Eur Rev Med Pharmacol Sci 27 (6), 2634-2639 (2023)
   PUBMED   37013781
  REMARK    GeneRIF: Oxytocin receptor (OXTR) is a risk gene for polycystic
            ovarian syndrome.
REFERENCE   4  (bases 1 to 4387)
  AUTHORS   Lee M, Lori A, Langford NA and Rilling JK.
  TITLE     The neural basis of smile authenticity judgments and the potential
            modulatory role of the oxytocin receptor gene (OXTR)
  JOURNAL   Behav Brain Res 437, 114144 (2023)
   PUBMED   36216140
  REMARK    GeneRIF: The neural basis of smile authenticity judgments and the
            potential modulatory role of the oxytocin receptor gene (OXTR).
REFERENCE   5  (bases 1 to 4387)
  AUTHORS   Erickson EN, Krol KM, Perkeybile AM, Connelly JJ and Myatt L.
  TITLE     Oxytocin receptor single nucleotide polymorphism predicts
            atony-related postpartum hemorrhage
  JOURNAL   BMC Pregnancy Childbirth 22 (1), 884 (2022)
   PUBMED   36447139
  REMARK    GeneRIF: Oxytocin receptor single nucleotide polymorphism predicts
            atony-related postpartum hemorrhage. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4387)
  AUTHORS   Simmons CF Jr, Clancy TE, Quan R and Knoll JH.
  TITLE     The oxytocin receptor gene (OXTR) localizes to human chromosome 3p25
            by fluorescence in situ hybridization and PCR analysis of somatic
            cell hybrids
  JOURNAL   Genomics 26 (3), 623-625 (1995)
   PUBMED   7607693
REFERENCE   7  (bases 1 to 4387)
  AUTHORS   Inoue T, Kimura T, Azuma C, Inazawa J, Takemura M, Kikuchi T, Kubota
            Y, Ogita K and Saji F.
  TITLE     Structural organization of the human oxytocin receptor gene
  JOURNAL   J Biol Chem 269 (51), 32451-32456 (1994)
   PUBMED   7798245
REFERENCE   8  (bases 1 to 4387)
  AUTHORS   Kjaer A, Knigge U and Warberg J.
  TITLE     Histamine- and stress-induced prolactin secretion: importance of
            vasopressin V1- and V2-receptors
  JOURNAL   Eur J Endocrinol 131 (4), 391-397 (1994)
   PUBMED   7921229
REFERENCE   9  (bases 1 to 4387)
  AUTHORS   Mayerhofer A, Sterzik K, Link H, Wiemann M and Gratzl M.
  TITLE     Effect of oxytocin on free intracellular Ca2+ levels and
            progesterone release by human granulosa-lutein cells
  JOURNAL   J Clin Endocrinol Metab 77 (5), 1209-1214 (1993)
   PUBMED   8077313
REFERENCE   10  (bases 1 to 4387)
  AUTHORS   Kimura T, Tanizawa O, Mori K, Brownstein MJ and Okayama H.
  TITLE     Structure and expression of a human oxytocin receptor
  JOURNAL   Nature 356 (6369), 526-529 (1992)
   PUBMED   1313946
  REMARK    Erratum:[Nature 1992 May 14;357(6374):176]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.1392539.1, X64878.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000316793.8/ ENSP00000324270.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC068312.5.
            On Aug 11, 2020 this sequence version replaced NM_000916.3.
            Summary: The protein encoded by this gene belongs to the G-protein
            coupled receptor family and acts as a receptor for oxytocin. Its
            activity is mediated by G proteins which activate a
            phosphatidylinositol-calcium second messenger system. The
            oxytocin-oxytocin receptor system plays an important role in the
            uterus during parturition. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1-5 all encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 5' end.
FEATURES             Location/Qualifiers
     source          1..4387
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..4387
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="oxytocin receptor"
                     /db_xref="GeneID:5021"
                     /db_xref="HGNC:HGNC:8529"
                     /db_xref="MIM:167055"
     misc_feature    580..582
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="upstream in-frame stop codon"
     CDS             622..1791
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /codon_start=1
                     /product="oxytocin receptor"
                     /protein_id="NP_000907.2"
                     /db_xref="CCDS:CCDS2570.1"
                     /db_xref="GeneID:5021"
                     /db_xref="HGNC:HGNC:8529"
                     /db_xref="MIM:167055"
                     /translation="MEGALAANWSAEAANASAAPPGAEGNRTAGPPRRNEALARVEVAV
                     LCLILLLALSGNACVLLALRTTRQKHSRLFFFMKHLSIADLVVAVFQVLPQLLWDITFR
                     FYGPDLLCRLVKYLQVVGMFASTYLLLLMSLDRCLAICQPLRSLRRRTDRLAVLATWLG
                     CLVASAPQVHIFSLREVADGVFDCWAVFIQPWGPKAYITWITLAVYIVPVIVLAACYGL
                     ISFKIWQNLRLKTAAAAAAEAPEGAAAGDGGRVALARVSSVKLISKAKIRTVKMTFIIV
                     LAFIVCWTPFFFVQMWSVWDANAPKEASAFIIVMLLASLNSCCNPWIYMLFTGHLFHEL
                     VQRFLCCSASYLKGRRLGETSASKKSNSSSFVLSHRSSSQRSCSQPSTA"
     misc_feature    640..714
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P30559.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    643..645
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30559.2); glycosylation site"
     misc_feature    664..666
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30559.2); glycosylation site"
     misc_feature    697..699
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30559.2); glycosylation site"
     misc_feature    736..810
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P30559.2);
                     transmembrane region"
     misc_feature    844..912
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P30559.2);
                     transmembrane region"
     misc_feature    961..1026
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P30559.2);
                     transmembrane region"
     misc_feature    1084..1146
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P30559.2);
                     transmembrane region"
     misc_feature    1228..1296
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P30559.2);
                     transmembrane region"
     misc_feature    1447..1503
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P30559.2);
                     transmembrane region"
     misc_feature    1549..1617
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P30559.2);
                     transmembrane region"
     misc_feature    1702..1788
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="propagated from UniProtKB/Swiss-Prot (P30559.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1717..1719
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70536; propagated from
                     UniProtKB/Swiss-Prot (P30559.2); phosphorylation site"
     misc_feature    1723..1725
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70536; propagated from
                     UniProtKB/Swiss-Prot (P30559.2); phosphorylation site"
     regulatory      2700..2705
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="hexamer: AACAAG"
     polyA_site      2734
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="major polyA site"
     regulatory      4351..4356
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="hexamer: AATAAA"
     regulatory      4355..4360
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="hexamer: AACAAA"
     polyA_site      4374
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="major polyA site"
     polyA_site      4387
                     /gene="OXTR"
                     /gene_synonym="OT-R; OTR"
                     /note="major polyA site"
ORIGIN
        1 gttaaggctc tgggaccaac gctgggcgaa ccagctccgc tccggagggg tctgcgcggc
       61 tggcctcgcc cgccccctag cggacccgtg cgatagtgca gcctcagccc cagcgcacag
      121 cgccgcatcc agacgctgtc cgcgcgcgca gcctgggagg cgctcctcgc tcgcctcctg
      181 tacccatcca gcgaccagcc aggctgcggc gaggggattc caaccgaggc tccagtgaga
      241 gacctcagct tagcatcaca ttaggtgcag ccggcaggcc atcccaactc gggccgggag
      301 cgcacgcgtc actggggccg tcagtcgccg tgcaacttcc ccggggggag tcaactttag
      361 gttcgcctgc ggactcggtg cagtggaagc cgctgaacat cccgaggaac tggcacgctg
      421 ggggctctgg gcttgtggcc ggtagaggat tcccgctcat ttgcagtggc tcagaggagg
      481 gtggacccag cagatccgtc cgtggagtct ccaggagtgg agccccgggc gcccctacac
      541 cctccgacac gccggatccg gcccagccgc gccaagccgt aaagggctcg aaggccgggg
      601 cgcaccgctg ccgccagggt catggagggc gcgctcgcag ccaactggag cgccgaggca
      661 gccaacgcca gcgccgcgcc gccgggggcc gagggcaacc gcaccgccgg acccccgcgg
      721 cgcaacgagg ccctggcgcg cgtggaggtg gcggtgctgt gtctcatcct gctcctggcg
      781 ctgagcggga acgcgtgtgt gctgctggcg ctgcgcacca cacgccagaa gcactcgcgc
      841 ctcttcttct tcatgaagca cctaagcatc gccgacctgg tggtggcagt gtttcaggtg
      901 ctgccgcagt tgctgtggga catcaccttc cgcttctacg ggcccgacct gctgtgccgc
      961 ctggtcaagt acttgcaggt ggtgggcatg ttcgcctcca cctacctgct gctgctcatg
     1021 tccctggacc gctgcctggc catctgccag ccgctgcgct cgctgcgccg ccgcaccgac
     1081 cgcctggcag tgctcgccac gtggctcggc tgcctggtgg ccagcgcgcc gcaggtgcac
     1141 atcttctctc tgcgcgaggt ggctgacggc gtcttcgact gctgggccgt cttcatccag
     1201 ccctggggac ccaaggccta catcacatgg atcacgctag ctgtctacat cgtgccggtc
     1261 atcgtgctcg ctgcctgcta cggccttatc agcttcaaga tctggcagaa cttgcggctc
     1321 aagaccgctg cagcggcggc ggccgaggcg ccagagggcg cggcggctgg cgatgggggg
     1381 cgcgtggccc tggcgcgtgt cagcagcgtc aagctcatct ccaaggccaa gatccgcacg
     1441 gtcaagatga ctttcatcat cgtgctggcc ttcatcgtgt gctggacgcc tttcttcttc
     1501 gtgcagatgt ggagcgtctg ggatgccaac gcgcccaagg aagcctcggc cttcatcatc
     1561 gtcatgctcc tggccagcct caacagctgc tgcaacccct ggatctacat gctgttcacg
     1621 ggccacctct tccacgaact cgtgcagcgc ttcctgtgct gctccgccag ctacctgaag
     1681 ggcagacgcc tgggagagac gagtgccagc aaaaagagca actcgtcctc ctttgtcctg
     1741 agccatcgca gctccagcca gaggagctgc tcccagccat ccacggcgtg acccaccagc
     1801 cagggccagg gctgcagcct gaggctcagg ctgtgctggc ataagtgctc tgctcctagg
     1861 tgatggcgta tgtttgtgta taaggtacct atcagtttgt atccctcccc tccttggggt
     1921 ggcttcagtg gggtggagag tggcctccat gatggaagat gataggggac tcagccatca
     1981 gacaacaccc tggcctccta cacgtacttc taccaccctg aacccactgc tgccctgggc
     2041 agtgagtggc ttgttttttc tcctggactt gtaatttcac tccagtatat ttttacttct
     2101 tcattctggg atattgtgaa aagcggtaaa tataggattg gtgaccaatt gggtcaggaa
     2161 gtccagtgtt ctggacttgg ggtaagcagt ggggttggga cctcagatgg gaagggtggt
     2221 gctaagatcc tcctgacctc aaagtgtatt tgcctttaag cgaacaaatg ctggggtcct
     2281 tggggaccag cttgtcagag ggtagcccta agagaagggg attaccttgt aagaccatct
     2341 ggcgcagtgg acctattaga acttgggtta aaaatgttta agaagctaat gtttaagaag
     2401 catttgggaa agaaaaagaa ataaatgtat ccagatagga aaagaagaag taaaactatt
     2461 tgcagatgac acagttttgt atatagaaaa tcctaaggaa ctcacacaca cacacacaca
     2521 cacacacgca cacagctatt agaactaata agcaagttcc gcaaggtttc aagatacaag
     2581 atcaatatac aaaaatgaat tgtatttctt tatactagca acaaacaata tgaaaacgaa
     2641 gttaaataat tccatttata ataccatcag aaagaataaa ataggaatca acttaacaaa
     2701 acaagtgcaa gactgaaaac tacaaaattg gaaagaaatt aaagaaggct taaataaatg
     2761 gaaagacatc ctgtgttcat ggatcagact tagtattgtt aagatggcaa tactatccta
     2821 actgacatgc agattcagtg caatccttat gaaaatcata gctggcttct ttacagaaat
     2881 tgataagcta gtcccaaaat tcataaagaa atgcaaggga cccagaatat ccaaataagc
     2941 cttgaaaaag aacaaagttg gtggattcac acttcctgat ttcataattt acgataaagg
     3001 taatcagctc agtgtgttac tggtttaagg atagacatac ggagcagaat aaagagtaca
     3061 gatatgaaca cttatactta cggtcaattg atttttgaca aggttcccaa gacaattcaa
     3121 tagagaaagg agagtctttt caacaaatgg caccgagaca atgatatgca agtgcaaaag
     3181 aatgaggttg gacctttact cacactatgt gcaaaaatca actcaaaacg catccaagat
     3241 ctaaatataa gagctgaaac tataaaatct tagaaagaaa cataggcata gatctttgta
     3301 accttgaatt aggcagtggt ttcttagata tgataccaaa gacacaagca accaatggaa
     3361 aaataggtaa attggactta atcaagattt gaagcttttg tgattgaaaa gaccctatca
     3421 agaaggtgaa aagataacct gcagaatggg agaaaatatt tgcgagtcat atatatgata
     3481 aggggcttgt atctggaata tataaataac tcttataaca caacaataag gagaaaaata
     3541 aatcaattta aaaaatgggc taacggtttg aatagacatt tctccaaaga agatatgcaa
     3601 atggctacta agcacatgaa aaaatactca acattattat tcattaggga aatgcaagtc
     3661 aaaatcacaa tgagattcca gtttacaatc actaggatgg ctacaataaa aagatggaca
     3721 agaacgagtg tcggtgagga tgtagagaaa ctggtagaaa tttaaattgt tggtgggaat
     3781 gtaaatggtg cacctgcttt gaaaaacagt ttggcagtac ctcaaaaagt taaacgtaga
     3841 gtgaccatat gacccaggaa tgccactcct aggtatttac ccaagagaaa tgaaaacgta
     3901 catacacaca aaaacttgta caccaatgtt catagcaaca ttatttgtaa tagccaaaaa
     3961 gtggaaacaa cccaaatgtc taccaactga tgaatgggaa ataaaatgtg gtctgtccac
     4021 gcaatggaac attattagac tctaaaaaga aatgaagtac tcacacatgc cacaacatgg
     4081 atgagccttg aaaacttgct aagtgaaaga agccaggtgc aaaagcccac atattgtctg
     4141 actgcattga aatgcaatgt ctaaaatgga cgaatctata tagagtgaat atagattagc
     4201 gtttgccagg gcctggaggc tgtgagagat gaggcatgac tactaagggt ttggggtttc
     4261 tttttcgggt gatgaaaatg ttctgaaatt agtggtgatt gtgcacgatt ttgagaatgt
     4321 actaaaaacc aatgaacttt aaaaaataaa aataaacaaa aaaaattcaa cagatgaatt
     4381 cagagaa
//
LOCUS       NM_000918               2437 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens prolyl 4-hydroxylase subunit beta (P4HB), mRNA.
ACCESSION   NM_000918
VERSION     NM_000918.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2437)
  AUTHORS   Wang F, Yu Z, Liu X, Hu F, Liu X, Fu X, Liu Y and Zou Z.
  TITLE     A meta-analysis and bioinformatics analysis of P4HB expression
            levels in the prognosis of cancer patients
  JOURNAL   Pathol Res Pract 245, 154474 (2023)
   PUBMED   37119730
  REMARK    GeneRIF: A meta-analysis and bioinformatics analysis of P4HB
            expression levels in the prognosis of cancer patients. Review
            article
REFERENCE   2  (bases 1 to 2437)
  AUTHORS   Nagarkoti S, Kim YM, Ash D, Das A, Vitriol E, Read TA, Youn SW,
            Sudhahar V, McMenamin M, Hou Y, Boatwright H, Caldwell R, Essex DW,
            Cho J, Fukai T and Ushio-Fukai M.
  TITLE     Protein disulfide isomerase A1 as a novel redox sensor in VEGFR2
            signaling and angiogenesis
  JOURNAL   Angiogenesis 26 (1), 77-96 (2023)
   PUBMED   35984546
  REMARK    GeneRIF: Protein disulfide isomerase A1 as a novel redox sensor in
            VEGFR2 signaling and angiogenesis.
REFERENCE   3  (bases 1 to 2437)
  AUTHORS   Syed F, Singhal D, Raedschelders K, Krishnan P, Bone RN, McLaughlin
            MR, Van Eyk JE, Mirmira RG, Yang ML, Mamula MJ, Wu H, Liu X and
            Evans-Molina C.
  TITLE     A discovery-based proteomics approach identifies protein disulphide
            isomerase (PDIA1) as a biomarker of beta cell stress in type 1
            diabetes
  JOURNAL   EBioMedicine 87, 104379 (2023)
   PUBMED   36463755
  REMARK    GeneRIF: A discovery-based proteomics approach identifies protein
            disulphide isomerase (PDIA1) as a biomarker of beta cell stress in
            type 1 diabetes.
REFERENCE   4  (bases 1 to 2437)
  AUTHORS   Parakh S, Perri ER, Vidal M, Sultana J, Shadfar S, Mehta P, Konopka
            A, Thomas CJ, Spencer DM and Atkin JD.
  TITLE     Protein disulphide isomerase (PDI) is protective against amyotrophic
            lateral sclerosis (ALS)-related mutant Fused in Sarcoma (FUS) in in
            vitro models
  JOURNAL   Sci Rep 11 (1), 17557 (2021)
   PUBMED   34475430
  REMARK    GeneRIF: Protein disulphide isomerase (PDI) is protective against
            amyotrophic lateral sclerosis (ALS)-related mutant Fused in Sarcoma
            (FUS) in in vitro models. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2437)
  AUTHORS   Fernando SR, Lee CL, Wong BP, Cheng KW, Lee YL, Chan MC, Ng EH,
            Yeung WS and Lee KF.
  TITLE     Expression of membrane protein disulphide isomerase A1 (PDIA1)
            disrupt a reducing microenvironment in endometrial epithelium for
            embryo implantation
  JOURNAL   Exp Cell Res 405 (2), 112665 (2021)
   PUBMED   34111473
  REMARK    GeneRIF: Expression of membrane protein disulphide isomerase A1
            (PDIA1) disrupt a reducing microenvironment in endometrial
            epithelium for embryo implantation.
REFERENCE   6  (bases 1 to 2437)
  AUTHORS   Hochstrasser DF, Frutiger S, Paquet N, Bairoch A, Ravier F, Pasquali
            C, Sanchez JC, Tissot JD, Bjellqvist B, Vargas R et al.
  TITLE     Human liver protein map: a reference database established by
            microsequencing and gel comparison
  JOURNAL   Electrophoresis 13 (12), 992-1001 (1992)
   PUBMED   1286669
REFERENCE   7  (bases 1 to 2437)
  AUTHORS   Tasanen K, Oikarinen J, Kivirikko KI and Pihlajaniemi T.
  TITLE     Promoter of the gene for the multifunctional protein disulfide
            isomerase polypeptide. Functional significance of the six CCAAT
            boxes and other promoter elements
  JOURNAL   J Biol Chem 267 (16), 11513-11519 (1992)
   PUBMED   1597478
REFERENCE   8  (bases 1 to 2437)
  AUTHORS   Vuori K, Myllyla R, Pihlajaniemi T and Kivirikko KI.
  TITLE     Expression and site-directed mutagenesis of human protein disulfide
            isomerase in Escherichia coli. This multifunctional polypeptide has
            two independently acting catalytic sites for the isomerase activity
  JOURNAL   J Biol Chem 267 (11), 7211-7214 (1992)
   PUBMED   1559965
REFERENCE   9  (bases 1 to 2437)
  AUTHORS   Chessler SD and Byers PH.
  TITLE     Defective folding and stable association with protein disulfide
            isomerase/prolyl hydroxylase of type I procollagen with a deletion
            in the pro alpha 2(I) chain that preserves the Gly-X-Y repeat
            pattern
  JOURNAL   J Biol Chem 267 (11), 7751-7757 (1992)
   PUBMED   1339453
REFERENCE   10  (bases 1 to 2437)
  AUTHORS   Pihlajaniemi T, Myllyla R and Kivirikko KI.
  TITLE     Prolyl 4-hydroxylase and its role in collagen synthesis
  JOURNAL   J Hepatol 13 Suppl 3, S2-S7 (1991)
   PUBMED   1667665
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.5600.1, HM005572.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000331483.9/ ENSP00000327801.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB466371.1 and BC010859.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000918.3.
            Summary: This gene encodes the beta subunit of prolyl
            4-hydroxylase, a highly abundant multifunctional enzyme that
            belongs to the protein disulfide isomerase family. When present as
            a tetramer consisting of two alpha and two beta subunits, this
            enzyme is involved in hydroxylation of prolyl residues in
            preprocollagen. This enzyme is also a disulfide isomerase
            containing two thioredoxin domains that catalyze the formation,
            breakage and rearrangement of disulfide bonds. Other known
            functions include its ability to act as a chaperone that inhibits
            aggregation of misfolded proteins in a concentration-dependent
            manner, its ability to bind thyroid hormone, its role in both the
            influx and efflux of S-nitrosothiol-bound nitric oxide, and its
            function as a subunit of the microsomal triglyceride transfer
            protein complex. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2437
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..2437
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="prolyl 4-hydroxylase subunit beta"
                     /db_xref="GeneID:5034"
                     /db_xref="HGNC:HGNC:8548"
                     /db_xref="MIM:176790"
     misc_feature    50..52
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="upstream in-frame stop codon"
     CDS             65..1591
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /EC_number="5.3.4.1"
                     /note="protein disulfide isomerase-associated 1; collagen
                     prolyl 4-hydroxylase beta; protein disulfide isomerase
                     family A, member 1; protein disulfide
                     isomerase/oxidoreductase; procollagen-proline,
                     2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta
                     polypeptide; thyroid hormone-binding protein p55;
                     glutathione-insulin transhydrogenase; protocollagen
                     hydroxylase; testicular secretory protein Li 32; prolyl
                     4-hydroxylase, beta polypeptide; protein
                     disulfide-isomerase; cellular thyroid hormone-binding
                     protein"
                     /codon_start=1
                     /product="protein disulfide-isomerase precursor"
                     /protein_id="NP_000909.2"
                     /db_xref="CCDS:CCDS11787.1"
                     /db_xref="GeneID:5034"
                     /db_xref="HGNC:HGNC:8548"
                     /db_xref="MIM:176790"
                     /translation="MLRRALLCLAVAALVRADAPEEEDHVLVLRKSNFAEALAAHKYLL
                     VEFYAPWCGHCKALAPEYAKAAGKLKAEGSEIRLAKVDATEESDLAQQYGVRGYPTIKF
                     FRNGDTASPKEYTAGREADDIVNWLKKRTGPAATTLPDGAAAESLVESSEVAVIGFFKD
                     VESDSAKQFLQAAEAIDDIPFGITSNSDVFSKYQLDKDGVVLFKKFDEGRNNFEGEVTK
                     ENLLDFIKHNQLPLVIEFTEQTAPKIFGGEIKTHILLFLPKSVSDYDGKLSNFKTAAES
                     FKGKILFIFIDSDHTDNQRILEFFGLKKEECPAVRLITLEEEMTKYKPESEELTAERIT
                     EFCHRFLEGKIKPHLMSQELPEDWDKQPVKVLVGKNFEDVAFDEKKNVFVEFYAPWCGH
                     CKQLAPIWDKLGETYKDHENIVIAKMDSTANEVEAVKVHSFPTLKFFPASADRTVIDYN
                     GERTLDGFKKFLESGGQDGAGDDDDLEDLEEAEEPDMEEDDDQKAVKDEL"
     sig_peptide     65..115
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     116..1588
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /product="protein disulfide-isomerase"
     misc_feature    224..226
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="Contributes to redox potential value; propagated
                     from UniProtKB/Swiss-Prot (P07237.3); other site"
     misc_feature    227..229
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="Contributes to redox potential value; propagated
                     from UniProtKB/Swiss-Prot (P07237.3); other site"
     misc_feature    422..424
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="Lowers pKa of C-terminal Cys of first active site;
                     propagated from UniProtKB/Swiss-Prot (P07237.3); other
                     site"
     misc_feature    662..664
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P09103; propagated from
                     UniProtKB/Swiss-Prot (P07237.3); acetylation site"
     misc_feature    1055..1057
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:32149426; propagated from
                     UniProtKB/Swiss-Prot (P07237.3); phosphorylation site"
     misc_feature    1133..1135
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039,
                     ECO:0000269|PubMed:32149426; propagated from
                     UniProtKB/Swiss-Prot (P07237.3); phosphorylation site"
     misc_feature    1256..1258
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="Contributes to redox potential value.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P07237.3); other site"
     misc_feature    1259..1261
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="Contributes to redox potential value.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P07237.3); other site"
     misc_feature    1343..1345
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:32149426; propagated from
                     UniProtKB/Swiss-Prot (P07237.3); phosphorylation site"
     misc_feature    1445..1447
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="Lowers pKa of C-terminal Cys of second active site.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P07237.3); other site"
     misc_feature    1475..1588
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="propagated from UniProtKB/Swiss-Prot (P07237.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1577..1588
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="propagated from UniProtKB/Swiss-Prot (P07237.3);
                     Region: Prevents secretion from ER"
     regulatory      2420..2425
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="hexamer: AATAAA"
     polyA_site      2437
                     /gene="P4HB"
                     /gene_synonym="CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI;
                     PDIA1; PHDB; PO4DB; PO4HB; PROHB"
                     /note="major polyA site"
ORIGIN
        1 gctctcgtcg cccccgctgt cccggcggcg ccaaccgaag cgccccgcct gatccgtgtc
       61 cgacatgctg cgccgcgctc tgctgtgcct ggccgtggcc gccctggtgc gcgccgacgc
      121 ccccgaggag gaggaccacg tcctggtgct gcggaaaagc aacttcgcgg aggcgctggc
      181 ggcccacaag tacctgctgg tggagttcta tgccccttgg tgtggccact gcaaggctct
      241 ggcccctgag tatgccaaag ccgctgggaa gctgaaggca gaaggttccg agatcaggtt
      301 ggccaaggtg gacgccacgg aggagtctga cctggcccag cagtacggcg tgcgcggcta
      361 tcccaccatc aagttcttca ggaatggaga cacggcttcc cccaaggaat atacagctgg
      421 cagagaggct gatgacatcg tgaactggct gaagaagcgc acgggcccgg ctgccaccac
      481 cctgcctgac ggcgcagctg cagagtcctt ggtggagtcc agcgaggtgg ctgtcatcgg
      541 cttcttcaag gacgtggagt cggactctgc caagcagttt ttgcaggcag cagaggccat
      601 cgatgacata ccatttggga tcacttccaa cagtgacgtg ttctccaaat accagctcga
      661 caaagatggg gttgtcctct ttaagaagtt tgatgaaggc cggaacaact ttgaagggga
      721 ggtcaccaag gagaacctgc tggactttat caaacacaac cagctgcccc ttgtcatcga
      781 gttcaccgag cagacagccc cgaagatttt tggaggtgaa atcaagactc acatcctgct
      841 gttcttgccc aagagtgtgt ctgactatga cggcaaactg agcaacttca aaacagcagc
      901 cgagagcttc aagggcaaga tcctgttcat cttcatcgac agcgaccaca ccgacaacca
      961 gcgcatcctc gagttctttg gcctgaagaa ggaagagtgc ccggccgtgc gcctcatcac
     1021 cctggaggag gagatgacca agtacaagcc cgaatcggag gagctgacgg cagagaggat
     1081 cacagagttc tgccaccgct tcctggaggg caaaatcaag ccccacctga tgagccagga
     1141 gctgccggag gactgggaca agcagcctgt caaggtgctt gttgggaaga actttgaaga
     1201 cgtggctttt gatgagaaaa aaaacgtctt tgtggagttc tatgccccat ggtgtggtca
     1261 ctgcaaacag ttggctccca tttgggataa actgggagag acgtacaagg accatgagaa
     1321 catcgtcatc gccaagatgg actcgactgc caacgaggtg gaggccgtca aagtgcacag
     1381 cttccccaca ctcaagttct ttcctgccag tgccgacagg acggtcattg attacaacgg
     1441 ggaacgcacg ctggatggtt ttaagaaatt cctggagagc ggtggccagg atggggcagg
     1501 ggatgatgac gatctcgagg acctggaaga agcagaggag ccagacatgg aggaagacga
     1561 tgatcagaaa gctgtgaaag atgaactgta atacgcaaag ccagacccgg gcgctgccga
     1621 gacccctcgg gggctgcaca cccagcagca gcgcacgcct ccgaagcctg cggcctcgct
     1681 tgaaggaggg cgtcgccgga aacccaggga acctctctga agtgacacct cacccctaca
     1741 caccgtccgt tcacccccgt ctcttccttc tgcttttcgg tttttggaaa gggatccatc
     1801 tccaggcagc ccaccctggt ggggcttgtt tcctgaaacc atgatgtact ttttcataca
     1861 tgagtctgtc cagagtgctt gctaccgtgt tcggagtctc gctgcctccc tcccgcggga
     1921 ggtttctcct ctttttgaaa attccgtctg tgggattttt agacattttt cgacatcagg
     1981 gtatttgttc caccttggcc aggcctcctc ggagaagctt gtcccccgtg tgggagggac
     2041 ggagccggac tggacatggt cactcagtac cgcctgcagt gtcgccatga ctgatcatgg
     2101 ctcttgcatt tttgggtaaa tggagacttc cggatcctgt cagggtgtcc cccatgcctg
     2161 gaagaggagc tggtggctgc cagccctggg gcccggcaca ggcctgggcc ttccccttcc
     2221 ctcaagccag ggctcctcct cctgtcgtgg gctcattgtg accactggcc tctctacagc
     2281 acggcctgtg gcctgttcaa ggcagaacca cgacccttga ctcccgggtg gggaggtggc
     2341 caaggatgct ggagctgaat cagacgctga cagttcttca ggcatttcta tttcacaatc
     2401 gaattgaaca cattggccaa ataaagttga aatttta
//
LOCUS       NM_000921              12486 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens phosphodiesterase 3A (PDE3A), transcript variant 1,
            mRNA.
ACCESSION   NM_000921
VERSION     NM_000921.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 12486)
  AUTHORS   Sholokh A, Walter S, Marko L, McMurray BJ, Sunaga-Franze DY, Xu M,
            Zuhlke K, Russwurm M, Bartolomaeus TUP, Langanki R, Qadri F, Heuser
            A, Patzak A, Forslund SK, Bahring S, Borodina T, Persson PB, Maass
            PG, Bader M and Klussmann E.
  TITLE     Mutant phosphodiesterase 3A protects the kidney from
            hypertension-induced damage
  JOURNAL   Kidney Int 104 (2), 388-393 (2023)
   PUBMED   37244472
  REMARK    GeneRIF: Mutant phosphodiesterase 3A protects the kidney from
            hypertension-induced damage.
REFERENCE   2  (bases 1 to 12486)
  AUTHORS   Ercu M, Walter S and Klussmann E.
  TITLE     Mutations in Phosphodiesterase 3A (PDE3A) Cause Hypertension Without
            Cardiac Damage
  JOURNAL   Hypertension 80 (6), 1171-1179 (2023)
   PUBMED   37035914
  REMARK    GeneRIF: Mutations in Phosphodiesterase 3A (PDE3A) Cause
            Hypertension Without Cardiac Damage. Review article
REFERENCE   3  (bases 1 to 12486)
  AUTHORS   Skogestad J, Albert I, Hougen K, Lothe GB, Lunde M, Eken OS, Veras
            I, Huynh NTT, Borstad M, Marshall S, Shen X, Louch WE, Robinson EL,
            Cleveland JC Jr, Ambardekar AV, Schwisow JA, Jonas E, Calejo AI,
            Morth JP, Tasken K, Melleby AO, Lunde PK, Sjaastad I, Carlson CR and
            Aronsen JM.
  TITLE     Disruption of Phosphodiesterase 3A Binding to SERCA2 Increases
            SERCA2 Activity and Reduces Mortality in Mice With Chronic Heart
            Failure
  JOURNAL   Circulation 147 (16), 1221-1236 (2023)
   PUBMED   36876489
  REMARK    GeneRIF: Disruption of Phosphodiesterase 3A Binding to SERCA2
            Increases SERCA2 Activity and Reduces Mortality in Mice With Chronic
            Heart Failure.
REFERENCE   4  (bases 1 to 12486)
  AUTHORS   Ercu M, Mucke MB, Pallien T, Marko L, Sholokh A, Schachterle C,
            Aydin A, Kidd A, Walter S, Esmati Y, McMurray BJ, Lato DF, Yumi
            Sunaga-Franze D, Dierks PH, Flores BIM, Walker-Gray R, Gong M,
            Merticariu C, Zuhlke K, Russwurm M, Liu T, Batolomaeus TUP, Pautz S,
            Schelenz S, Taube M, Napieczynska H, Heuser A, Eichhorst J, Lehmann
            M, Miller DC, Diecke S, Qadri F, Popova E, Langanki R, Movsesian MA,
            Herberg FW, Forslund SK, Muller DN, Borodina T, Maass PG, Bahring S,
            Hubner N, Bader M and Klussmann E.
  TITLE     Mutant Phosphodiesterase 3A Protects From Hypertension-Induced
            Cardiac Damage
  JOURNAL   Circulation 146 (23), 1758-1778 (2022)
   PUBMED   36259389
  REMARK    GeneRIF: Mutant Phosphodiesterase 3A Protects From
            Hypertension-Induced Cardiac Damage.
REFERENCE   5  (bases 1 to 12486)
  AUTHORS   Yan B, Ding Z, Zhang W, Cai G, Han H, Ma Y, Cao Y, Wang J, Chen S
            and Ai Y.
  TITLE     Multiple PDE3A modulators act as molecular glues promoting
            PDE3A-SLFN12 interaction and induce SLFN12 dephosphorylation and
            cell death
  JOURNAL   Cell Chem Biol 29 (6), 958-969 (2022)
   PUBMED   35104454
REFERENCE   6  (bases 1 to 12486)
  AUTHORS   Lobbert RW, Winterpacht A, Seipel B and Zabel BU.
  TITLE     Molecular cloning and chromosomal assignment of the human homologue
            of the rat cGMP-inhibited phosphodiesterase 1 (PDE3A)--a gene
            involved in fat metabolism located at 11p 15.1
  JOURNAL   Genomics 37 (2), 211-218 (1996)
   PUBMED   8921398
REFERENCE   7  (bases 1 to 12486)
  AUTHORS   Cheung PP, Xu H, McLaughlin MM, Ghazaleh FA, Livi GP and Colman RW.
  TITLE     Human platelet cGI-PDE: expression in yeast and localization of the
            catalytic domain by deletion mutagenesis
  JOURNAL   Blood 88 (4), 1321-1329 (1996)
   PUBMED   8695850
REFERENCE   8  (bases 1 to 12486)
  AUTHORS   Loughney K, Martins TJ, Harris EA, Sadhu K, Hicks JB, Sonnenburg WK,
            Beavo JA and Ferguson K.
  TITLE     Isolation and characterization of cDNAs corresponding to two human
            calcium, calmodulin-regulated, 3',5'-cyclic nucleotide
            phosphodiesterases
  JOURNAL   J Biol Chem 271 (2), 796-806 (1996)
   PUBMED   8557689
REFERENCE   9  (bases 1 to 12486)
  AUTHORS   Degerman E, Moos M Jr, Rascon A, Vasta V, Meacci E, Smith CJ,
            Lindgren S, Andersson KE, Belfrage P and Manganiello V.
  TITLE     Single-step affinity purification, partial structure and properties
            of human platelet cGMP inhibited cAMP phosphodiesterase
  JOURNAL   Biochim Biophys Acta 1205 (2), 189-198 (1994)
   PUBMED   8155697
REFERENCE   10  (bases 1 to 12486)
  AUTHORS   Meacci E, Taira M, Moos M Jr, Smith CJ, Movsesian MA, Degerman E,
            Belfrage P and Manganiello V.
  TITLE     Molecular cloning and expression of human myocardial cGMP-inhibited
            cAMP phosphodiesterase
  JOURNAL   Proc Natl Acad Sci U S A 89 (9), 3721-3725 (1992)
   PUBMED   1315035
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U36798.1, M91667.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000359062.4/ ENSP00000351957.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC129102.5 and AC112777.7.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 11, 2020 this sequence version replaced NM_000921.4.
            Summary: This gene encodes a member of the cGMP-inhibited cyclic
            nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes
            hydrolyze both cAMP and cGMP, and play critical roles in many
            cellular processes by regulating the amplitude and duration of
            intracellular cyclic nucleotide signals. The encoded protein
            mediates platelet aggregation and also plays important roles in
            cardiovascular function by regulating vascular smooth muscle
            contraction and relaxation. Inhibitors of the encoded protein may
            be effective in treating congestive heart failure. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene. [provided by RefSeq, Sep 2011].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..12486
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.2"
     gene            1..12486
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="phosphodiesterase 3A"
                     /db_xref="GeneID:5139"
                     /db_xref="HGNC:HGNC:8778"
                     /db_xref="MIM:123805"
     misc_feature    554..556
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="upstream in-frame stop codon"
     CDS             749..4174
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /EC_number="3.1.4.17"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cGMP-inhibited 3',5'-cyclic phosphodiesterase A; cyclic
                     GMP-inhibited phosphodiesterase A; cAMP phosphodiesterase,
                     myocardial cGMP-inhibited; phosphodiesterase 3A,
                     cGMP-inhibited; cGMP-inhibited cAMP phosphodiesterase;
                     cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A"
                     /codon_start=1
                     /product="cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A
                     isoform 1"
                     /protein_id="NP_000912.3"
                     /db_xref="CCDS:CCDS31754.1"
                     /db_xref="GeneID:5139"
                     /db_xref="HGNC:HGNC:8778"
                     /db_xref="MIM:123805"
                     /translation="MAVPGDAARVRDKPVHSGVSQAPTAGRDCHHRADPASPRDSGCRG
                     CWGDLVLQPLRSSRKLSSALCAGSLSFLLALLVRLVRGEVGCDLEQCKEAAAAEEEEAA
                     PGAEGGVFPGPRGGAPGGGARLSPWLQPSALLFSLLCAFFWMGLYLLRAGVRLPLAVAL
                     LAACCGGEALVQIGLGVGEDHLLSLPAAGVVLSCLAAATWLVLRLRLGVLMIALTSAVR
                     TVSLISLERFKVAWRPYLAYLAGVLGILLARYVEQILPQSAEAAPREHLGSQLIAGTKE
                     DIPVFKRRRRSSSVVSAEMSGCSSKSHRRTSLPCIPREQLMGHSEWDHKRGPRGSQSSG
                     TSITVDIAVMGEAHGLITDLLADPSLPPNVCTSLRAVSNLLSTQLTFQAIHKPRVNPVT
                     SLSENYTCSDSEESSEKDKLAIPKRLRRSLPPGLLRRVSSTWTTTTSATGLPTLEPAPV
                     RRDRSTSIKLQEAPSSSPDSWNNPVMMTLTKSRSFTSSYAISAANHVKAKKQSRPGALA
                     KISPLSSPCSSPLQGTPASSLVSKISAVQFPESADTTAKQSLGSHRALTYTQSAPDLSP
                     QILTPPVICSSCGRPYSQGNPADEPLERSGVATRTPSRTDDTAQVTSDYETNNNSDSSD
                     IVQNEDETECLREPLRKASACSTYAPETMMFLDKPILAPEPLVMDNLDSIMEQLNTWNF
                     PIFDLVENIGRKCGRILSQVSYRLFEDMGLFEAFKIPIREFMNYFHALEIGYRDIPYHN
                     RIHATDVLHAVWYLTTQPIPGLSTVINDHGSTSDSDSDSGFTHGHMGYVFSKTYNVTDD
                     KYGCLSGNIPALELMALYVAAAMHDYDHPGRTNAFLVATSAPQAVLYNDRSVLENHHAA
                     AAWNLFMSRPEYNFLINLDHVEFKHFRFLVIEAILATDLKKHFDFVAKFNGKVNDDVGI
                     DWTNENDRLLVCQMCIKLADINGPAKCKELHLQWTDGIVNEFYEQGDEEASLGLPISPF
                     MDRSAPQLANLQESFISHIVGPLCNSYDSAGLMPGKWVEDSDESGDTDDPEEEEEEAPA
                     PNEEETCENNESPKKKTFKRRKIYCQITQHLLQNHKMWKKVIEEEQRLAGIENQSLDQT
                     PQSHSSEQIQAIKEEEEEKGKPRGEEIPTQKPDQ"
     misc_feature    749..874
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14432.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    929..991
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14432.3);
                     transmembrane region"
     misc_feature    1136..1198
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14432.3);
                     transmembrane region"
     misc_feature    1226..1288
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14432.3);
                     transmembrane region"
     misc_feature    1301..1363
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14432.3);
                     transmembrane region"
     misc_feature    1376..1438
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14432.3);
                     transmembrane region"
     misc_feature    1442..1504
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14432.3);
                     transmembrane region"
     misc_feature    1682..1684
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14432.3); phosphorylation site"
     misc_feature    2030..2032
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="Phosphoserine, by PKA and PKC.
                     /evidence=ECO:0000269|PubMed:25961942; propagated from
                     UniProtKB/Swiss-Prot (Q14432.3); phosphorylation site"
     misc_feature    2054..2194
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14432.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2060..2062
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="Phosphoserine, by PKA and PKC.
                     /evidence=ECO:0000269|PubMed:25961942; propagated from
                     UniProtKB/Swiss-Prot (Q14432.3); phosphorylation site"
     misc_feature    2222..2224
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14432.3); phosphorylation site"
     misc_feature    2306..2308
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14432.3); phosphorylation site"
     misc_feature    2318..2320
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0X4; propagated from
                     UniProtKB/Swiss-Prot (Q14432.3); phosphorylation site"
     misc_feature    2516..2668
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14432.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2753..4171
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14432.3);
                     Region: Interaction with SLFN12.
                     /evidence=ECO:0000269|PubMed:35104454"
     misc_feature    3815..3934
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14432.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3845..3847
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0X4; propagated from
                     UniProtKB/Swiss-Prot (Q14432.3); phosphorylation site"
     misc_feature    3854..3856
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z0X4; propagated from
                     UniProtKB/Swiss-Prot (Q14432.3); phosphorylation site"
     misc_feature    4046..4171
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14432.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      7960..7965
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="hexamer: TATAAA"
     regulatory      7979..7984
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="hexamer: AATAAA"
     polyA_site      7980
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="major polyA site"
     polyA_site      8002
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
     regulatory      11513..11518
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="hexamer: AATAAA"
     polyA_site      11536
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
     regulatory      12466..12471
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
                     /note="hexamer: TATAAA"
     polyA_site      12486
                     /gene="PDE3A"
                     /gene_synonym="CGI-PDE; CGI-PDE A; CGI-PDE-A; HTNB"
ORIGIN
        1 gctagtctct cggtctggct ctctctccga cgggacttag caacttctta tttctcagcc
       61 ccttgtccat tttttttttt ccatcctttg ccatgaattg gattgacaga ggcgggggag
      121 gctttgcttt ctgccccagg gaatggcgat tcgcgtcctg gggccgtgcc ggggagaatc
      181 ggccgaggag aaagaaagag tgatagaaaa agagctgcag gaaggaggag aagggagacc
      241 tccatctgcc gcgggcccgg cgcgctgcag cgcagcgcag cgccgagctg cgcctcggaa
      301 tggcccggag cccgccctgc gcccccggct cctccagcgt cagcggctcc tgcgcgcggg
      361 atgcattggg caatttttga aatcctgaag taggaagaga ccccggagga tataagtcgg
      421 gggtgggggt ggagcagaga atctgtgaaa gatattcaaa gagagaaaag gggaatcctg
      481 atcgtttctg cccgtgcttg ttttcaactt gagcgtgcta gcctttaact tgaagaagtc
      541 tcattggagc atctagcatt ctccaggagt tattcgaaag ctgaaacttt cagtggattg
      601 tgggcctggg gagaagaagg attccgaggg tggaattggg aagagcgtgc gtgcgtgtgt
      661 gtgtgtgtgt gtgtgcgcgc gcgcgcgtgg gtcggggcgg gggcgtcggg gggccactgg
      721 gaattcagtg aagagggcac cctataccat ggcagtgccc ggcgacgctg cacgagtcag
      781 ggacaagccc gtccacagtg gggtgagtca agcccccacg gcgggccggg actgccacca
      841 tcgtgcggac cccgcatcgc cgcgggactc gggctgccgt ggctgctggg gagacctggt
      901 gctgcagccg ctccggagct ctcggaaact ttcctccgcg ctgtgcgcgg gctccctgtc
      961 ctttctgctg gcgctgctgg tgaggctggt ccgcggggag gtcggctgtg acctggagca
     1021 gtgtaaggag gcggcggcgg cggaggagga ggaagcagcc ccgggagcag aagggggcgt
     1081 cttcccgggg cctcggggag gtgctcccgg gggcggtgcg cggctcagcc cctggctgca
     1141 gccctcggcg ctgctcttca gtctcctgtg tgccttcttc tggatgggct tgtacctcct
     1201 gcgcgccggg gtgcgcctgc ctctggctgt cgcgctgctg gccgcctgct gcggggggga
     1261 agcgctcgtc cagattgggc tgggcgtcgg ggaggatcac ttactctcac tccccgccgc
     1321 gggggtggtg ctcagctgct tggccgccgc gacatggctg gtgctgaggc tgaggctggg
     1381 cgtcctcatg atcgccttga ctagcgcggt caggaccgtg tccctcattt ccttagagag
     1441 gttcaaggtc gcctggagac cttacctggc gtacctggcc ggcgtgctgg ggatcctctt
     1501 ggccaggtac gtggaacaaa tcttgccgca gtccgcggag gcggctccaa gggagcattt
     1561 ggggtcccag ctgattgctg ggaccaagga agatatcccg gtgtttaaga ggaggaggcg
     1621 gtccagctcc gtcgtgtccg ccgagatgtc cggctgcagc agcaagtccc atcggaggac
     1681 ctccctgccc tgtataccga gggaacagct catggggcat tcagaatggg accacaaacg
     1741 agggccaaga ggatcacagt cttcaggaac cagtattact gtggacatcg ccgtcatggg
     1801 cgaggcccac ggcctcatta ccgacctcct ggcagaccct tctcttccac caaacgtgtg
     1861 cacatccttg agagccgtga gcaacttgct cagcacacag ctcaccttcc aggccattca
     1921 caagcccaga gtgaatcccg tcacttcgct cagtgaaaac tatacctgtt ctgactctga
     1981 agagagctct gaaaaagaca agcttgctat tccaaagcgc ctgagaagga gtttgcctcc
     2041 tggcttgttg agacgagttt cttccacttg gaccaccacc acctcggcca caggtctacc
     2101 caccttggag cctgcaccag tacggagaga ccgcagcacc agcatcaaac tgcaggaagc
     2161 accttcatcc agtcctgatt cttggaataa tccagtgatg atgaccctca ccaaaagcag
     2221 atcctttact tcatcctatg ctatttctgc agctaaccat gtaaaggcta aaaagcaaag
     2281 tcgaccaggt gccctcgcta aaatttcacc tctttcatcg ccctgctcct cacctctcca
     2341 agggactcct gccagcagcc tggtcagcaa aatttctgca gtgcagtttc cagaatctgc
     2401 tgacacaact gccaaacaaa gcctaggttc tcacagggcc ttaacttaca ctcagagtgc
     2461 cccagaccta tcccctcaaa tcctgactcc acctgttata tgtagcagct gtggcagacc
     2521 atattcccaa gggaatcctg ctgatgagcc cctggagaga agtggggtag ccactcggac
     2581 accaagtaga acagatgaca ctgctcaagt tacctctgat tatgaaacca ataacaacag
     2641 tgacagcagt gacattgtac agaatgaaga tgaaacagag tgcctgagag agcctctgag
     2701 gaaagcatcg gcttgcagca cctatgctcc tgagaccatg atgtttctgg acaaaccaat
     2761 tcttgctccc gaacctcttg tcatggataa cctggactca attatggagc agctaaatac
     2821 ttggaatttt ccaatttttg atttagtgga aaatatagga agaaaatgtg gccgtattct
     2881 tagtcaggta tcttacagac tttttgaaga catgggcctc tttgaagctt ttaaaattcc
     2941 aattagggaa tttatgaatt attttcatgc tttggagatt ggatataggg atattcctta
     3001 tcataacaga atccatgcca ctgatgtttt acatgctgtt tggtatctta ctacacagcc
     3061 tattccaggc ctctcaactg tgattaatga tcatggttca accagtgatt cagattctga
     3121 cagtggattt acacatggac atatgggata tgtattctca aaaacgtata atgtgacaga
     3181 tgataaatac ggatgtctgt ctgggaatat ccctgccttg gagttgatgg cgctgtatgt
     3241 ggctgcagcc atgcacgatt atgatcatcc aggaaggact aatgctttcc tggttgcaac
     3301 tagtgctcct caggcggtgc tatataacga tcgttcagtt ttggagaatc atcacgcagc
     3361 tgctgcatgg aatcttttca tgtcccggcc agagtataac ttcttaatta accttgacca
     3421 tgtggaattt aagcatttcc gtttccttgt cattgaagca attttggcca ctgacctgaa
     3481 gaaacacttt gacttcgtag ccaaatttaa tggcaaggta aatgatgatg ttggaataga
     3541 ttggaccaat gaaaatgatc gtctactggt ttgtcaaatg tgtataaagt tggctgatat
     3601 caatggtcca gctaaatgta aagaactcca tcttcagtgg acagatggta ttgtcaatga
     3661 attttatgaa cagggtgatg aagaggccag ccttggatta cccataagcc ccttcatgga
     3721 tcgttctgct cctcagctgg ccaaccttca ggaatccttc atctctcaca ttgtggggcc
     3781 tctgtgcaac tcctatgatt cagcaggact aatgcctgga aaatgggtgg aagacagcga
     3841 tgagtcagga gatactgatg acccagaaga agaggaggaa gaagcaccag caccaaatga
     3901 agaggaaacc tgtgaaaata atgaatctcc aaaaaagaag actttcaaaa ggagaaaaat
     3961 ctactgccaa ataactcagc acctcttaca gaaccacaag atgtggaaga aagtcattga
     4021 agaggagcaa cggttggcag gcatagaaaa tcaatccctg gaccagaccc ctcagtcgca
     4081 ctcttcagaa cagatccagg ctatcaagga agaagaagaa gagaaaggga aaccaagagg
     4141 cgaggagata ccaacccaaa agccagacca gtgacaatgg atagaatggg ctgtgtttcc
     4201 aaacagattg acttgtcaaa gactctcttc aagccagcac aacatttaga cacaacactg
     4261 tagaaatttg agatgggcaa atggctattg cattttggga ttcttcgcat tttgtgtgta
     4321 tatttttaca gtgaggtaca ttgttaaaaa ctttttgctc aaagaagctt tcacattgca
     4381 acaccagctt ctaaggattt tttaaggagg gaatatatat gtgtgtgtgt atataagctc
     4441 ccacatagat acatgtaaaa catattcaca cccatgcacg cacacacata cacactgaag
     4501 gccacgattg ctggctccac aatttagtaa catttatatt aagatatata tatagtggtc
     4561 actgtgatat aataaatcat aaaggaaacc aaatcacaaa ggagatggtg tggcttagca
     4621 aggaaacagt gcaggaaatg taggttacca actaagcagc ttttgctctt agtactgagg
     4681 gatgaaagtt ccagagcatt atttgaattc tgatacatcc tgccaacact gtgtgtgtgt
     4741 gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gtgaaagaga gacagaaggg aatggtttga
     4801 gagggtgctt gtgtgcatgt gtgtgcatat gtaaagagat ttttgtggtt taagtaactc
     4861 agaatagctg tagcaaatga ctgaatacat gtgaacaaac agaaggaagt tcactctgga
     4921 gtgtctttgg gaggcagcca ttccaaatgc cctcctccat ttagcttcaa taaagggcct
     4981 tttgctgatg gagggcactc aagggctggg tgagagggcc acgtgtttgg tattacatta
     5041 ctgctatgca ccacttgaag gagctctatc accagcctca aacccgaaag actgaggcat
     5101 tttccagtct acttgcctaa tgaatgtata ggaactgtct atgagtatgg atgtcactca
     5161 actaagatca aatcaccatt taaggggatg gcattcttta tacctaaaca cctaagagct
     5221 gaagtcaggt cttttaatca ggttagaatt ctaaatgatg ccagagaagg cttgggaaat
     5281 tgtacttcag cgtgatagcc tgtgtcttct taatttgctg caaaatatgt ggtagagaaa
     5341 gaaaaggaaa cagaaaaatc actctgggtt atatagcaag agatgaagga gaatatttca
     5401 acacagggtt tttgtgttga cataggaaaa gcctgattct tggcaactgt tgtagtttgt
     5461 ctttcagggg tgaaggtccc actgacaacc cctgttgtgg tgttccacac gctgtttgtt
     5521 ggggtagctt ccatcggcag tctggcccat tgtcagtcat gcttcttctg gccggggaga
     5581 ttatagagag attgtttgaa gattgggtta ttattgaaag tctttttttt tgtttgtttt
     5641 gttttggttt gtttgtttat ctacacttgt ttatgctgtg agccaaacct ctatttaaaa
     5701 agttgatact cactttcaat attttatttc atattattat atatgtcatg atagttatct
     5761 tgatgtaaat atgaagattt ttttgtttct gtagatagta aactcttttt ttaaaaaagg
     5821 aaaagggaaa catttttata aagttatatt ttaatcacca tttttataca ttgtagttct
     5881 ctccaagccc agtaagagaa tgatgattca tttgcatgga ggtcgatgga caaccaatca
     5941 tctacctttt ctaatttaaa tgataatctg atatagtttt attgccagtt aaatgaggat
     6001 gctgcaaagc atgttttttc actagtaact tttgctaact gaatgaattc tgggtccata
     6061 tctcccagat gaaaaactgt taaccaatac catattttat agttggtgtc catttctttc
     6121 caacactgtt tgttatgatt cttccttgag tacttatata cagacctgct cattatctaa
     6181 acaatcttac cttctaagta aaccttgatt gtgatttcca gtttttattt tctctgacgt
     6241 agtagaaagg aatgtttaca ttaaaaatac ttttgtttct cataaatgga tattgtactc
     6301 ccccctttca aagcattatt ttacaataat tcatggcatt ttaaaaaata aggcaaagat
     6361 aatacgacaa aaaatataca tggtttcaag gcaaattctc caataagttg gaaaatgtaa
     6421 aaaggatcaa gtggatgcag cctctaccta aataattaaa atatatttca gtatatttct
     6481 gaattaacac caggtcttca ttatttagaa cttactaaat tgttttcatt ttcttagttt
     6541 tacctgtgta tctccatgtt tgcaaaaatt actataagtc aaattttgcc agtgaattta
     6601 actatttttc tttccttgca attaagggga aaaaagcatt tatcttatct tctcataccc
     6661 cttgcatcta agtacttagc aaagtcaata ttttcccatt ttccaaatgc gtccatctct
     6721 aacataaata ttaattgaac atagagctat gtttggagtg agtggactgg caggacagtt
     6781 ggaagtccat cacagtctat tgacagtttc atcaaagctg tatagtccaa ctagtggggc
     6841 agcttggcta ctatggtgga agtctcagca aactgcctgg ttttgtttgt ttgttttgtt
     6901 ttaaggtaca ggaaataaga ggaataatag tggccaaagc aattagaaca tcttcattcc
     6961 agaactgtgt tcagcaatcc aggcagattg atacattttt ctttaaaaat aaattgctat
     7021 tacagctaga cgtcaattgg gataaataaa gggatgaaga tccactaagt ttgtgacttt
     7081 catacacacc cagtacatct caaaggatgc taagggacat tttctgccag tagagttctc
     7141 cccctttttg gtgacagcaa tattattatg ttcacatcta actccagagc ttacttcctg
     7201 tggtgccaat gtatttgttg caatttacta catttttata tgagcctatt tataggtgcc
     7261 attaaactca ggtctttcaa atgaaagagt ttctagccca cttagggaaa aagataattg
     7321 tttagaaaac cataaaatca atggtaggaa aagttggaac tggttacctg gatgccatgg
     7381 ttctctgtta aataaagtaa gagaccaggt gtattctgag tgtcatcagt gttattttca
     7441 gcatgctaat aaatgtcttt ccggttatat atctatctaa attaaccttt aaaatattgg
     7501 tttccttgat aaaagcacca cttttgcttt tgttagctgt aatatttttt gtcatttaga
     7561 taagacctgg tttggctctc aataaaagat gaagacagta gctctgtaca gggatatatc
     7621 tatattagtc ttcatctgat gaatgaagaa attttctcat attatgttca agaaagtatt
     7681 tacttcctaa aaatagaatt cccgattctg tctattttgg ttgaatacca gaacaaatct
     7741 ttccgttgca atcccagtaa aacgaaagaa aaggaatatc ttacagactg ttcatattag
     7801 atgtatgtag actgttaatt tgcaatttcc ccatatttcc tgcctatctt acccagataa
     7861 ctttctttga aggtaaaagc tgtgcaaaag gcatgagact caggcctact ctttgtttaa
     7921 atgatggaaa aatataaatt attttctaag taataaaagt ataaaaatta tcattataaa
     7981 taaagtctaa agtttgaaat tattaattta taaaagtgaa ctaattgtgt gattatcaaa
     8041 tcctgattaa tgagaagtga ataatctaaa aatcatttat attctactgt gggaggtatt
     8101 cttggtgctt ccatgtcagt atcgggctct ccattgtcct catcatttat agtacttcta
     8161 aaataataat ggaaacctca ataagggtct tgtcctcttc tgtcatccta accctgattc
     8221 tagtttaatg cctttcctga cttatatgcc atttgtaaat aaacttcctt tcaaactgtt
     8281 agaacgctcc aataaaacaa agttctatga actttcatag tctagaaaaa ccaacaagat
     8341 cccccttatt tagagattat tagctaatgt gtgaaagaaa tatcaataga agttcaaatg
     8401 ctaatagctc aattccagat aattgaaagc taaaatatct atgtactttg aagccaaact
     8461 gagtttattt cattgatcga acaagcagca acacatttta tgaccattgt cctaggtcgt
     8521 ttgtgtcttt atgaatttgc tgatattgtc agtccatttt ttaaatcttc aacaaaattc
     8581 aattttaaga ttaagaaatc agcaatttta ggtaaagaat attccaagat taaattgttc
     8641 tttttaagaa atatatcagt tttaggtcct atgttcacac atcaatttgt tcatctggaa
     8701 gatattcaaa ttcttattgg gaatgaatta cactacaaac aatgagttga gctaaaaact
     8761 atacataact taaattgaga tttgcatacg tatttgtgtg tttcacacca aagacccatg
     8821 ctcagagaat ggtaacatat tttccagtct atgttatgca ccatggatgt taggcaatgt
     8881 gtgctattgc caacacatgg tatttgttga aatacatgtt gctttgacct tacctaatgg
     8941 tgcttttacc taacttgaag tgctttttgt gttcccacca gcaaatcatt ctaacagcag
     9001 gctaacaatg gtgaagtaaa atgaacattt ttgggccggg cgcagtggct cacgcctgta
     9061 atcccagcac tttgggaggc caaggctggt ggatcacctg aggtcgggag ttcgacacca
     9121 gcctgaccaa cacggagaaa ccccgtcttt actaaaaata caaaatgatt caggtgtggt
     9181 ggcgcatgtc tgtaatccca gctacccagg aggctgaggc agaatcgctt gaacctggga
     9241 ggcagaggtt atggtgagct gagattgcac cattgcactc cagcctgggc aacaggagtt
     9301 aaattttgcc tcaaaaaaaa aaaaaaaaaa aaaaagaaca ttttttggca aaatatgaag
     9361 acacgaaact gaagataaag gcttcatttc catagtggaa atcagtgttt acctgctgat
     9421 tcaaaaatac tgacctagta tcagtgtagg taagaccata aaatacagtg tatagaatta
     9481 tatataaatg gaaaacaaaa ttagcttttg acatatgttt aagtctctaa aaggaatcca
     9541 cattttcttt ccagatacag ctagtttttc tccacatgtt tttaaggttg atttccttga
     9601 cacacattgg tatccttggg tttctgcttc cttgaaaagt tgtggagcac agaagaaaag
     9661 ccttctcttt acagataaaa aatgttgaac atgttcatgt tctgacaatg aagcaatgat
     9721 ttcctcattg ctttgcatta agaagtggtt ctttagttat gcaaataatt caataaccaa
     9781 aaatgcttca aagagtaata ataaatcacc ataggtaagt attctcaaga atgtttaaat
     9841 ttggtttatt ttcttgaagc aaagttattt aattttttaa tttttaactt aaaatgaaac
     9901 ccacaaaatg acattccgtg gtactgagta ttttcacata atcagaactg taaactactg
     9961 attattttca tatactcaga ggctgaatat tttgatataa taagaactag tatcatataa
    10021 cagaaaacta gaaagaaggt ttaattcttt ttctaatatt ctacaagcct catggggaaa
    10081 atgttttatg aaggattcaa atacattaga taaaaattag tgtcaataat ttaactttgt
    10141 acaaattata gtctgagatc ttctgagttt tcctaagaca aaggagtgta ttatccagca
    10201 atttattgtt ttgtgttgtt ataaaataaa tgttctatta atgtatattt tattttacta
    10261 agttctaaca caaaaggcca aatacttatc tttcctacta agaaaaatta aaccttacta
    10321 atcttgactt tcacagatga aacactgacc agtcaataaa caacagccac tgcattaatc
    10381 tgcccagcat gatcagatag taggttagaa tttgaaattc attaataaaa aattaataac
    10441 aaaactttgt aagccttaat ggtttaatat ttccgtgtca ttgaaagttc ctatttcaaa
    10501 ttaaacaaac tacagcagga tatttttcct ttcctgtttc aaaacaaaaa ccagatgaag
    10561 aaaaaacaaa gacaaactca taggaggaaa gcatggcttc tcttcaatta tacttctctt
    10621 actcaatatt agtaaccaaa aaataagcag aaattctcct ctgccataat taaaagaaag
    10681 aatggccttc gacttaagtt ctagttcctc aagcctgctt tccttgtaaa gtccatggta
    10741 ctaagaagca aaaaatgcag agctgtggat tgggagtgaa cactacataa aatttgcagg
    10801 gtatcccagg acacccctca gtctttaata caaaccaatt tagttactct ggagtgaaat
    10861 gacttgtgga tacactgttc aaccatgact tcctttatga caaggagcac ttatacatgt
    10921 ttccaaatgt gaattagccc ttgaattagt ttgaaaactg ctacttgaat aacttttgaa
    10981 gagaaagatt ttctttccgg taattttact ccctaaaaaa ggcaaaatac tcagatgttc
    11041 aatgtgaaat tacaaatagt tgtttgaagt atatatactt caataaatag ttctttgtgt
    11101 atataaagtg ttggttcata gcagtttcct tgtccctttt ctttttaaaa ttcccaactg
    11161 attatgggtc aaaaactcca tcttatatca gcgatgattt cattttaact atttataagg
    11221 ataatttagt attatagtat tgctaacttt aataattcta ccatatctat atattacctg
    11281 ttagtgaggt tttaatggct ttacttaata catatttgtt catcagctta aaaaatcact
    11341 aaatttttta tactctgtaa aatatttgca tgggaatttt agcttattat gtttgcttaa
    11401 ctggtgtttt tttcacttat gactgtcagt ttatgtctta atgtattctc acagaagaat
    11461 gcataccatt tttgttccaa caagaacaat ctgttagttg ataagcactg gtaataaata
    11521 tcactgaacc cacccacccc ctgatatttc ttcctcaagt tttctatcat gcaaatcaca
    11581 aaatgaaaat tggtgctttt acaaatattt gaaagctctc aatgcaaaat aataaaaatg
    11641 agattctccc tggctttcta taatatatta ggatatgtga ctgaaggaaa tttaatctga
    11701 atttagagtg ttttaggttt tggttggttt gaataatttg atttgcattt tggtattaaa
    11761 atgtgctctg atttctgcgg gcatttgttc tgaccagtca ttacctcttc ccaacagaaa
    11821 aaaaaaaaaa aaaaaaaaaa ctggcattgg caagttttaa ttaatatggc ccaaaaattt
    11881 gaccttgaag gatatttgta aaccagagag tatttaatta actaaattta ctgtttctga
    11941 aaagcaatat tttcaaataa ctgccaacca aagtgacact atagggatgt catttgtaca
    12001 tgacaatttt taacaatgta attcttacca ctctcgacag acctgaatat gtttactaat
    12061 aactttgcca aatttttcaa cttctagaaa aacaagagtg agtcttttga acttcatcat
    12121 tttgcaattg aaataaatct tgtcctttca cctatatctt ccatttaata tatgtagcaa
    12181 tacttagtat catcccatca caagtattgt taggcgactt agtggcggag aaatgtttgt
    12241 aaaaagtaga atctgtacag aaaaaaaact agatcaattg tatttatttt tattattttt
    12301 tagcttagat actatgttga tgctcccttt ttgccagaat tactggaagt gcctcttggt
    12361 tttatatata taatatataa atattacagt aaatatatac tcaaaattat taaaattatg
    12421 tcctagatta tctatgtcga tgttatgagt gaagataatg tataatataa aaataattct
    12481 gcagta
//
LOCUS       NM_000922               5995 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens phosphodiesterase 3B (PDE3B), transcript variant 2,
            mRNA.
ACCESSION   NM_000922
VERSION     NM_000922.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5995)
  AUTHORS   Dolce B, Christ T, Grammatika Pavlidou N, Yildirim Y, Reichenspurner
            H, Eschenhagen T, Nikolaev VO, Kaumann AJ and Molina CE.
  TITLE     Impact of phosphodiesterases PDE3 and PDE4 on 5-hydroxytryptamine
            receptor4-mediated increase of cAMP in human atrial fibrillation
  JOURNAL   Naunyn Schmiedebergs Arch Pharmacol 394 (2), 291-298 (2021)
   PUBMED   32949251
  REMARK    GeneRIF: Impact of phosphodiesterases PDE3 and PDE4 on
            5-hydroxytryptamine receptor4-mediated increase of cAMP in human
            atrial fibrillation.
REFERENCE   2  (bases 1 to 5995)
  AUTHORS   Rassi-Cruz M, Maria AG, Faucz FR, London E, Vilela LAP, Santana LS,
            Benedetti AFF, Goldbaum TS, Tanno FY, Srougi V, Chambo JL, Pereira
            MAA, Cavalcante ACBS, Carnevale FC, Pilan B, Bortolotto LA, Drager
            LF, Lerario AM, Latronico AC, Fragoso MCBV, Mendonca BB, Zerbini
            MCN, Stratakis CA and Almeida MQ.
  TITLE     Phosphodiesterase 2A and 3B variants are associated with primary
            aldosteronism
  JOURNAL   Endocr Relat Cancer 28 (1), 1-13 (2021)
   PUBMED   33112806
  REMARK    GeneRIF: Phosphodiesterase 2A and 3B variants are associated with
            primary aldosteronism.
REFERENCE   3  (bases 1 to 5995)
  AUTHORS   Gottel C, Niesen S, Daub V, Werle T, Bakuradze T, Winterhalter P and
            Richling E.
  TITLE     In Vitro Inhibition of Phosphodiesterase 3B (PDE 3B) by
            Anthocyanin-Rich Fruit Juice Extracts and Selected Anthocyanins
  JOURNAL   Int J Mol Sci 21 (18), 6934 (2020)
   PUBMED   32967310
  REMARK    GeneRIF: In Vitro Inhibition of Phosphodiesterase 3B (PDE 3B) by
            Anthocyanin-Rich Fruit Juice Extracts and Selected Anthocyanins.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5995)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 5995)
  AUTHORS   MacKeil JL, Brzezinska P, Burke-Kleinman J, Theilmann AL, Nicol CJB,
            Ormiston ML and Maurice DH.
  TITLE     Phosphodiesterase 3B (PDE3B) antagonizes the anti-angiogenic actions
            of PKA in human and murine endothelial cells
  JOURNAL   Cell Signal 62, 109342 (2019)
   PUBMED   31176020
  REMARK    GeneRIF: Phosphodiesterase 3B (PDE3B) antagonizes the
            anti-angiogenic actions of PKA in human and murine endothelial
            cells.
REFERENCE   6  (bases 1 to 5995)
  AUTHORS   Murata T, Taira M and Manganiello VC.
  TITLE     Differential expression of cGMP-inhibited cyclic nucleotide
            phosphodiesterases in human hepatoma cell lines
  JOURNAL   FEBS Lett 390 (1), 29-33 (1996)
   PUBMED   8706823
REFERENCE   7  (bases 1 to 5995)
  AUTHORS   Rahn T, Ronnstrand L, Leroy MJ, Wernstedt C, Tornqvist H,
            Manganiello VC, Belfrage P and Degerman E.
  TITLE     Identification of the site in the cGMP-inhibited phosphodiesterase
            phosphorylated in adipocytes in response to insulin and
            isoproterenol
  JOURNAL   J Biol Chem 271 (19), 11575-11580 (1996)
   PUBMED   8626720
REFERENCE   8  (bases 1 to 5995)
  AUTHORS   Loughney K, Martins TJ, Harris EA, Sadhu K, Hicks JB, Sonnenburg WK,
            Beavo JA and Ferguson K.
  TITLE     Isolation and characterization of cDNAs corresponding to two human
            calcium, calmodulin-regulated, 3',5'-cyclic nucleotide
            phosphodiesterases
  JOURNAL   J Biol Chem 271 (2), 796-806 (1996)
   PUBMED   8557689
REFERENCE   9  (bases 1 to 5995)
  AUTHORS   Manganiello VC, Taira M, Degerman E and Belfrage P.
  TITLE     Type III cGMP-inhibited cyclic nucleotide phosphodiesterases (PDE3
            gene family)
  JOURNAL   Cell Signal 7 (5), 445-455 (1995)
   PUBMED   8562305
  REMARK    Review article
REFERENCE   10  (bases 1 to 5995)
  AUTHORS   Rascon A, Degerman E, Taira M, Meacci E, Smith CJ, Manganiello V,
            Belfrage P and Tornqvist H.
  TITLE     Identification of the phosphorylation site in vitro for
            cAMP-dependent protein kinase on the rat adipocyte cGMP-inhibited
            cAMP phosphodiesterase
  JOURNAL   J Biol Chem 269 (16), 11962-11966 (1994)
   PUBMED   8163498
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.52394.1,
            SRR1660803.66885.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000282096.9/ ENSP00000282096.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC150307.1, BC136565.1 and AC090835.7.
            On Nov 22, 2018 this sequence version replaced NM_000922.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5995
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.2"
     gene            1..5995
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="phosphodiesterase 3B"
                     /db_xref="GeneID:5140"
                     /db_xref="HGNC:HGNC:8779"
                     /db_xref="MIM:602047"
     misc_feature    243..245
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="upstream in-frame stop codon"
     CDS             273..3611
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /EC_number="3.1.4.17"
                     /note="isoform 2 is encoded by transcript variant 2;
                     cGMP-inhibited 3',5'-cyclic phosphodiesterase B; cyclic
                     nucleotide phosphodiesterase; CGIP1; CGI-PDE B; cyclic
                     GMP-inhibited phosphodiesterase B; phosphodiesterase 3B,
                     cGMP-inhibited; cGMP-inhibited 3',5'-cyclic
                     phosphodiesterase 3B"
                     /codon_start=1
                     /product="cGMP-inhibited 3',5'-cyclic phosphodiesterase 3B
                     isoform 2"
                     /protein_id="NP_000913.2"
                     /db_xref="CCDS:CCDS7817.1"
                     /db_xref="GeneID:5140"
                     /db_xref="HGNC:HGNC:8779"
                     /db_xref="MIM:602047"
                     /translation="MRRDERDAKAMRSLQPPDGAGSPPESLRNGYVKSCVSPLRQDPPR
                     GFFFHLCRFCNVELRPPPASPQQPRRCSPFCRARLSLGALAAFVLALLLGAEPESWAAG
                     AAWLRTLLSVCSHSLSPLFSIACAFFFLTCFLTRTKRGPGPGRSCGSWWLLALPACCYL
                     GDFLVWQWWSWPWGDGDAGSAAPHTPPEAAAGRLLLVLSCVGLLLTLAHPLRLRHCVLV
                     LLLASFVWWVSFTSLGSLPSALRPLLSGLVGGAGCLLALGLDHFFQIREAPLHPRLSSA
                     AEEKVPVIRPRRRSSCVSLGETAASYYGSCKIFRRPSLPCISREQMILWDWDLKQWYKP
                     HYQNSGGGNGVDLSVLNEARNMVSDLLTDPSLPPQVISSLRSISSLMGAFSGSCRPKIN
                     PLTPFPGFYPCSEIEDPAEKGDRKLNKGLNRNSLPTPQLRRSSGTSGLLPVEQSSRWDR
                     NNGKRPHQEFGISSQGCYLNGPFNSNLLTIPKQRSSSVSLTHHVGLRRAGVLSSLSPVN
                     SSNHGPVSTGSLTNRSPIEFPDTADFLNKPSVILQRSLGNAPNTPDFYQQLRNSDSNLC
                     NSCGHQMLKYVSTSESDGTDCCSGKSGEEENIFSKESFKLMETQQEEETEKKDSRKLFQ
                     EGDKWLTEEAQSEQQTNIEQEVSLDLILVEEYDSLIEKMSNWNFPIFELVEKMGEKSGR
                     ILSQVMYTLFQDTGLLEIFKIPTQQFMNYFRALENGYRDIPYHNRIHATDVLHAVWYLT
                     TRPVPGLQQIHNGCGTGNETDSDGRINHGRIAYISSKSCSNPDESYGCLSSNIPALELM
                     ALYVAAAMHDYDHPGRTNAFLVATNAPQAVLYNDRSVLENHHAASAWNLYLSRPEYNFL
                     LHLDHVEFKRFRFLVIEAILATDLKKHFDFLAEFNAKANDVNSNGIEWSNENDRLLVCQ
                     VCIKLADINGPAKVRDLHLKWTEGIVNEFYEQGDEEANLGLPISPFMDRSSPQLAKLQE
                     SFITHIVGPLCNSYDAAGLLPGQWLEAEEDNDTESGDDEDGEELDTEDEEMENNLNPKP
                     PRRKSRRRIFCQLMHHLTENHKIWKEIVEEEEKCKADGNKLQVENSSLPQADEIQVIEE
                     ADEEE"
     misc_feature    273..350
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13370.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    273..347
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13370.2);
                     Region: Interaction with RAPGEF3.
                     /evidence=ECO:0000269|PubMed:21393242"
     misc_feature    309..311
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61409; propagated from
                     UniProtKB/Swiss-Prot (Q13370.2); phosphorylation site"
     misc_feature    534..596
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13370.2);
                     transmembrane region"
     misc_feature    621..683
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13370.2);
                     transmembrane region"
     misc_feature    726..788
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13370.2);
                     transmembrane region"
     misc_feature    846..908
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13370.2);
                     transmembrane region"
     misc_feature    930..992
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13370.2);
                     transmembrane region"
     misc_feature    1011..1073
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13370.2);
                     transmembrane region"
     misc_feature    1155..1157
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="Phosphoserine, by PKB/AKT1 or PKB/AKT2.
                     /evidence=ECO:0000250|UniProtKB:Q61409; propagated from
                     UniProtKB/Swiss-Prot (Q13370.2); phosphorylation site"
     misc_feature    1158..1160
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61409; propagated from
                     UniProtKB/Swiss-Prot (Q13370.2); phosphorylation site"
     misc_feature    1524..1685
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13370.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1578..1652
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13370.2);
                     Region: Interaction with PIK3R6.
                     /evidence=ECO:0000269|PubMed:21393242"
     misc_feature    1596..1598
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13370.2); phosphorylation site"
     misc_feature    3321..3425
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13370.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3546..3608
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13370.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      5297..5302
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="hexamer: AATAAA"
     polyA_site      5320
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="major polyA site"
     regulatory      5973..5978
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="hexamer: CATAAA"
     polyA_site      5986
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
     polyA_site      5995
                     /gene="PDE3B"
                     /gene_synonym="cGIPDE1; HcGIP1"
                     /note="major polyA site"
ORIGIN
        1 agtcccgaga ggtgcccgag ggaaaaggag gcggcagcta aactggtcct ggagagaagc
       61 cccttccgcc cctctcctca gccagcatgt cccggactcc gccgctcctc agtccgcgcg
      121 gtggggaccc cgggccgtgg cggccggcgc agccctgacg ggttgcgaac cagggggcgc
      181 cccgaacgcg ggggttgggg tctgggagcg cgagcggccg ctacggtacg agcggggtgt
      241 gctgagtccc gtggccaccc ccggccccag ccatgaggag ggacgagcga gacgccaaag
      301 ccatgcggtc cctgcagccg ccggatgggg ccggctcgcc ccccgagagt ctgaggaacg
      361 gctacgtgaa gagctgcgtg agccccttgc ggcaggaccc tccgcgcggc ttcttcttcc
      421 acctctgccg cttctgcaac gtggagctgc ggccgccgcc ggcctctccc cagcagccgc
      481 ggcgctgctc ccccttctgc cgggcgcgcc tctcgctggg cgccctggct gcctttgtcc
      541 tcgccctgct gctgggcgcg gaacccgaga gctgggctgc cggggccgcc tggctgcgga
      601 cgctgctgag cgtgtgttcg cacagcttga gccccctctt cagcatcgcc tgtgccttct
      661 tcttcctcac ctgcttcctc acccggacca agcggggacc cggcccgggc cggagctgcg
      721 gctcctggtg gctgctggcg ctgcccgcct gctgttacct gggggacttc ttggtgtggc
      781 agtggtggtc ttggccttgg ggggatggcg acgcagggtc cgcggccccg cacacgcccc
      841 cggaggcggc agcgggcagg ttgctgctgg tgctgagctg cgtagggctg ctgctgacgc
      901 tcgcgcaccc gctgcggctc cggcactgcg ttctggtgct gctcctggcc agcttcgtct
      961 ggtgggtctc cttcaccagc ctcgggtcgc tgccctccgc cctcaggccg ctgctctccg
     1021 gcctggtggg gggcgctggc tgcctgctgg ccctggggtt ggatcacttc tttcaaatca
     1081 gggaagcgcc tcttcatcct cgactgtcca gtgccgccga agaaaaagtg cctgtgatcc
     1141 gaccccggag gaggtccagc tgcgtgtcgt taggagaaac tgcagccagt tactatggca
     1201 gttgcaaaat attcaggaga ccgtcgttgc cttgtatttc cagagaacag atgattcttt
     1261 gggattggga cttaaaacaa tggtataagc ctcattatca aaattctgga ggtggaaatg
     1321 gagttgatct ttcagtgcta aatgaggctc gcaatatggt gtcagatctt ctgactgatc
     1381 caagccttcc accacaagtc atttcctctc tacggagtat tagtagctta atgggtgctt
     1441 tctcaggttc ctgtaggcca aagattaatc ctctcacacc atttcctgga ttttacccct
     1501 gttctgaaat agaggaccca gctgagaaag gggatagaaa acttaacaag ggactaaata
     1561 ggaatagttt gccaactcca cagctgagga gaagctcagg aacttcagga ttgctacctg
     1621 ttgaacagtc ttcaaggtgg gatcgtaata atggcaaaag acctcaccaa gaatttggca
     1681 tttcaagtca aggatgctat ctaaatgggc cttttaattc aaatctactg actatcccga
     1741 agcaaaggtc atcttctgta tcactgactc accatgtagg tctcagaaga gctggtgttt
     1801 tgtccagtct gagtcctgtg aattcttcca accatggacc agtgtctact ggctctctaa
     1861 ctaatcgatc acccatagaa tttcctgata ctgctgattt tcttaataag ccaagcgtta
     1921 tcttgcagag atctctgggc aatgcaccta atactccaga tttttatcag caacttagaa
     1981 attctgatag caatctgtgt aacagctgtg gacatcaaat gctgaaatat gtttcaacat
     2041 ctgaatcaga tggtacagat tgctgcagtg gaaaatcagg tgaagaagaa aacattttct
     2101 cgaaagaatc attcaaactt atggaaactc aacaagaaga ggaaacagag aagaaagaca
     2161 gcagaaaatt atttcaggaa ggtgataagt ggctaacaga agaggcacag agtgaacagc
     2221 aaacaaatat tgaacaggaa gtatcactgg acctgatttt agtagaagag tatgactcat
     2281 taatagaaaa gatgagcaac tggaattttc caatttttga acttgtagaa aagatgggag
     2341 agaaatcagg aaggattctc agtcaggtta tgtatacctt atttcaagac actggtttat
     2401 tggaaatatt taaaattccc actcaacaat ttatgaacta ttttcgtgca ttagaaaatg
     2461 gctatcgaga cattccttat cacaatcgta tacatgccac agatgtgcta catgcagttt
     2521 ggtatctgac aacacggcca gttcctggct tacagcagat ccacaatggt tgtggaacag
     2581 gaaatgaaac agattctgat ggtagaatta accatgggcg aattgcttat atttcttcga
     2641 agagctgctc taatcctgat gagagttatg gctgcctgtc ttcaaacatt cctgcattag
     2701 aattgatggc tctatacgtg gcagctgcca tgcatgatta tgatcaccca gggaggacaa
     2761 atgcatttct agtggctaca aatgcccctc aggcagtttt atacaatgac agatctgttc
     2821 tggaaaatca tcatgctgcg tcagcttgga atctatatct ttctcgccca gaatacaact
     2881 tccttcttca tcttgatcat gtggaattca agcgctttcg ttttttagtc attgaagcaa
     2941 tccttgctac ggatcttaaa aagcattttg attttctcgc agaattcaat gccaaggcaa
     3001 atgatgtaaa tagtaatggc atagaatgga gtaatgaaaa tgatcgcctc ttggtatgcc
     3061 aggtgtgcat caaactggca gatataaatg gcccagcaaa agttcgagac ttgcatttga
     3121 aatggacaga aggcattgtc aatgaatttt atgagcaggg agatgaagaa gcaaatcttg
     3181 gtctgcccat cagtccattc atggatcgtt cttctcctca actagcaaaa ctccaagaat
     3241 cttttatcac ccacatagtg ggtcccctgt gtaactccta tgatgctgct ggtttgctac
     3301 caggtcagtg gttagaagca gaagaggata atgatactga aagtggtgat gatgaagacg
     3361 gtgaagaatt agatacagaa gatgaagaaa tggaaaacaa tctaaatcca aaaccaccaa
     3421 gaaggaaaag cagacggcga atattttgtc agctaatgca ccacctcact gaaaaccaca
     3481 agatatggaa ggaaatcgta gaggaagaag aaaaatgtaa agctgatggg aataaactgc
     3541 aggtggagaa ttcctcctta cctcaagcag atgagattca ggtaattgaa gaggcagatg
     3601 aagaggaata gcgacagttt gagtaaaaga aaagtcatat tgaagaagcc cagagggttg
     3661 tgcccagggg cagaaatcat tgcctagtgt tcaccggctg actctcaact gaccattccc
     3721 atgtggacag gccttaatac tgtgagagga tccttgctct gctggcagtt tcccactcct
     3781 atgcactttc acaggaacta gaaaactatt cttaaaccaa aaataccatc cgtgttgacc
     3841 catgttgcag agcccttact taaatccttc actggtgtat gaatactttg tcataatgct
     3901 gctttgctgg gtagtgagct cttatttttc actgggggtc agctataact aaaaactcaa
     3961 gtgacatatt tcagttacca aagtggccag gaactttttg cttttatgaa aatagattca
     4021 tattgtattt cccagtgtgt cttttatgtc tttgaatgtt ttggagaaaa gtctatgcct
     4081 gtctaaaaat gaatccagtg ttgcctttct gagggatttc tgctcaatgc aatacactgt
     4141 tcagtgctat tctcccagct aggtttatcc atgaaggact gagtgacctt tgttgtattt
     4201 aacaaaatcc aggtgcatca atttctgatg ctttttacta ttgtgtatta tctactatgt
     4261 gtgttttatt tctgctgaga gtattcaggt ttgccatgga catcagaagt ttgaattcca
     4321 gtcttatctt atgttccatg gctgaatttt aaagctgttt aggtttaaca atgaagggat
     4381 ttattcttta gtcaaaattg ttgtttttac tctagctcag gattcgtatt tttaaagatt
     4441 tagttaatat gaacacagca cagatttgtt agaagaaaaa aaatttgctg taataccaaa
     4501 actaacctca tcaaagatac agaaaaaaag aaatatagtg agccctaaag gacacataca
     4561 ttgaataaat aattggaaca tgtggttatc tttagatcca catcttagct gtcatttgtt
     4621 cactctaaaa ctgatgttca tctttctgtt aatttccctc tgcctaaaga ctacatgaca
     4681 gaaatgacct atcactactt attatttctg aagcctaact gcaagactga tttctgagaa
     4741 caagtaaaga actggaatac ttatttttca tataaaaatc taaatgtgtt aataaatcat
     4801 ttcatacaaa agtacattat taaataacca cattattaaa ataattgcaa gaaaatggac
     4861 catatttaca atgttttgta aacttgctag tgtgtggata tgtaccctac ttgtgaaata
     4921 catttgaaga tataaagagc agccaaaatg atggcaaaat ggtaggctaa tattttctat
     4981 tattattgga gaacatatca tattttggaa tcatgcaatt ttgcacacag tgaaaccatt
     5041 aattttccaa ggtaattcct ttagaatatg gtattggcat gcagtttctt acttatctag
     5101 aatatttggc ttatctgaaa gatatcaatt taagatctct ggaagtgtta gaatttttga
     5161 tccttcacag tgtcaatatt taatgaatca ctaagcttta tttattagac gtgttgagtg
     5221 agtgctgagt tccttgctgc cacttttgtt accattgtca cacactatgt gtaaaccagt
     5281 cccaccactt attactaata aaattttgac tgataattta tatttgcact tacaatatat
     5341 atatcctgtc cttatatttc tctagagtac attttccatc atgtttaagt gtatttctgc
     5401 tattatttcc tctcctgcag aatacataca agtgtatgtg tataaagtca tacatgtaca
     5461 agcatgcata ttgagattga atcacatttc catactgtct gttattttat tgggttttat
     5521 attgggtttc tttagtttat gttgttttct caaaagcagc attttaaatt acgaatactg
     5581 gacttattgg atttaattat aaatccaatt actactggaa actcattttt acataatata
     5641 gtccttaaat tatttaaccc ttgctaagta attgacatat gtaacaataa ctagcctaaa
     5701 gaaacccaaa aaagtatctc tcccgagctg aaacttaaaa attcgtaagt gtaagaaaga
     5761 atgtgagaat atattaaatg cacactgtac cattagatga aatcttactt gagaaattgc
     5821 cataagccat attacagatc ttactttgtt actgaatcag attaatttct tgttataata
     5881 attttcatca taaattttct atttttaaag ccgctggtac tagaaatatt cttttaatgc
     5941 tatatctatg tacctactga cacatttttc tccataaaag tacttttaaa aatta
//
LOCUS       NM_000924               3193 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens phosphodiesterase 1B (PDE1B), transcript variant 1,
            mRNA.
ACCESSION   NM_000924
VERSION     NM_000924.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3193)
  AUTHORS   Gootwine E, Abu-Siam M, Obolensky A, Rosov A, Honig H, Nitzan T,
            Shirak A, Ezra-Elia R, Yamin E, Banin E, Averbukh E, Hauswirth WW,
            Ofri R and Seroussi E.
  TITLE     Gene Augmentation Therapy for a Missense Substitution in the
            cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in Day-Blind
            Sheep
  JOURNAL   Invest Ophthalmol Vis Sci 58 (3), 1577-1584 (2017)
   PUBMED   28282490
  REMARK    GeneRIF: The c.1618G>A, p.Gly540Ser substitution in CNGA3 was
            identified as the causative mutation for a novel form of ACHM in
            Awassi sheep. Gene augmentation therapy restored vision in the
            affected sheep. This novel mutation provides a large-animal model
            that is valid for most human CNGA3 ACHM patients; the majority of
            them carry missense rather than premature-termination mutations.
REFERENCE   2  (bases 1 to 3193)
  AUTHORS   Bollen E and Prickaerts J.
  TITLE     Phosphodiesterases in neurodegenerative disorders
  JOURNAL   IUBMB Life 64 (12), 965-970 (2012)
   PUBMED   23129425
  REMARK    Review article
REFERENCE   3  (bases 1 to 3193)
  AUTHORS   Lee OH, Kim H, He Q, Baek HJ, Yang D, Chen LY, Liang J, Chae HK,
            Safari A, Liu D and Songyang Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   4  (bases 1 to 3193)
  AUTHORS   Lakics V, Karran EH and Boess FG.
  TITLE     Quantitative comparison of phosphodiesterase mRNA distribution in
            human brain and peripheral tissues
  JOURNAL   Neuropharmacology 59 (6), 367-374 (2010)
   PUBMED   20493887
  REMARK    Erratum:[Neuropharmacology. 2013 Apr;67:532]
REFERENCE   5  (bases 1 to 3193)
  AUTHORS   Vandeput F, Wolda SL, Krall J, Hambleton R, Uher L, McCaw KN,
            Radwanski PB, Florio V and Movsesian MA.
  TITLE     Cyclic nucleotide phosphodiesterase PDE1C1 in human cardiac myocytes
  JOURNAL   J Biol Chem 282 (45), 32749-32757 (2007)
   PUBMED   17726023
REFERENCE   6  (bases 1 to 3193)
  AUTHORS   Yu J, Wolda SL, Frazier AL, Florio VA, Martins TJ, Snyder PB, Harris
            EA, McCaw KN, Farrell CA, Steiner B, Bentley JK, Beavo JA, Ferguson
            K and Gelinas R.
  TITLE     Identification and characterisation of a human calmodulin-stimulated
            phosphodiesterase PDE1B1
  JOURNAL   Cell Signal 9 (7), 519-529 (1997)
   PUBMED   9419816
REFERENCE   7  (bases 1 to 3193)
  AUTHORS   Spence S, Rena G, Sullivan M, Erdogan S and Houslay MD.
  TITLE     Receptor-mediated stimulation of lipid signalling pathways in CHO
            cells elicits the rapid transient induction of the PDE1B isoform of
            Ca2+/calmodulin-stimulated cAMP phosphodiesterase
  JOURNAL   Biochem J 321 (Pt 1) (Pt 1), 157-163 (1997)
   PUBMED   9003415
REFERENCE   8  (bases 1 to 3193)
  AUTHORS   Jiang X, Li J, Paskind M and Epstein PM.
  TITLE     Inhibition of calmodulin-dependent phosphodiesterase induces
            apoptosis in human leukemic cells
  JOURNAL   Proc Natl Acad Sci U S A 93 (20), 11236-11241 (1996)
   PUBMED   8855339
REFERENCE   9  (bases 1 to 3193)
  AUTHORS   Loughney K, Martins TJ, Harris EA, Sadhu K, Hicks JB, Sonnenburg WK,
            Beavo JA and Ferguson K.
  TITLE     Isolation and characterization of cDNAs corresponding to two human
            calcium, calmodulin-regulated, 3',5'-cyclic nucleotide
            phosphodiesterases
  JOURNAL   J Biol Chem 271 (2), 796-806 (1996)
   PUBMED   8557689
REFERENCE   10  (bases 1 to 3193)
  AUTHORS   Repaske DR, Swinnen JV, Jin SL, Van Wyk JJ and Conti M.
  TITLE     A polymerase chain reaction strategy to identify and clone cyclic
            nucleotide phosphodiesterase cDNAs. Molecular cloning of the cDNA
            encoding the 63-kDa calmodulin-dependent phosphodiesterase
  JOURNAL   J Biol Chem 267 (26), 18683-18688 (1992)
   PUBMED   1326532
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC032226.1, SRR1803613.88186.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA2142670 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000243052.8/ ENSP00000243052.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA254686.1, BC032226.1 and
            AC079310.20.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000924.3.
            Summary: The protein encoded by this gene belongs to the cyclic
            nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily.
            Members of the PDE1 family are calmodulin-dependent PDEs that are
            stimulated by a calcium-calmodulin complex. This PDE has
            dual-specificity for the second messengers, cAMP and cGMP, with a
            preference for cGMP as a substrate. cAMP and cGMP function as key
            regulators of many important physiological processes. Alternatively
            spliced transcript variants encoding different isoforms have been
            described for this gene.[provided by RefSeq, Jul 2011].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3193
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..3193
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /note="phosphodiesterase 1B"
                     /db_xref="GeneID:5153"
                     /db_xref="HGNC:HGNC:8775"
                     /db_xref="MIM:171891"
     CDS             186..1796
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /EC_number="3.1.4.17"
                     /note="isoform 1 is encoded by transcript variant 1; dual
                     specificity calcium/calmodulin-dependent 3',5'-cyclic
                     nucleotide phosphodiesterase 1B;
                     calcium/calmodulin-stimulated cyclic nucleotide
                     phosphodiesterase; presumed 63kDa form of the type 1 cyclic
                     nucleotide phosphodiesterase family known as PDE1B;
                     calmodulin-stimulated phosphodiesterase PDE1B1; cam-PDE 1B;
                     63 kDa Cam-PDE; phosphodiesterase 1B, calmodulin-dependent;
                     epididymis secretory sperm binding protein Li 79p"
                     /codon_start=1
                     /product="dual specificity calcium/calmodulin-dependent
                     3',5'-cyclic nucleotide phosphodiesterase 1B isoform 1"
                     /protein_id="NP_000915.1"
                     /db_xref="CCDS:CCDS8882.1"
                     /db_xref="GeneID:5153"
                     /db_xref="HGNC:HGNC:8775"
                     /db_xref="MIM:171891"
                     /translation="MELSPRSPPEMLEESDCPSPLELKSAPSKKMWIKLRSLLRYMVKQ
                     LENGEINIEELKKNLEYTASLLEAVYIDETRQILDTEDELQELRSDAVPSEVRDWLAST
                     FTQQARAKGRRAEEKPKFRSIVHAVQAGIFVERMFRRTYTSVGPTYSTAVLNCLKNLDL
                     WCFDVFSLNQAADDHALRTIVFELLTRHNLISRFKIPTVFLMSFLDALETGYGKYKNPY
                     HNQIHAADVTQTVHCFLLRTGMVHCLSEIELLAIIFAAAIHDYEHTGTTNSFHIQTKSE
                     CAIVYNDRSVLENHHISSVFRLMQDDEMNIFINLTKDEFVELRALVIEMVLATDMSCHF
                     QQVKTMKTALQQLERIDKPKALSLLLHAADISHPTKQWLVHSRWTKALMEEFFRQGDKE
                     AELGLPFSPLCDRTSTLVAQSQIGFIDFIVEPTFSVLTDVAEKSVQPLADEDSKSKNQP
                     SFQWRQPSLDVEVGDPNPDVVSFRSTWVKRIQENKQKWKERAASGITNQMSIDELSPCE
                     EEAPPSPAEDEHNQNGNLD"
     misc_feature    186..245
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01064.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    204..206
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q01065; propagated from
                     UniProtKB/Swiss-Prot (Q01064.2); phosphorylation site"
     misc_feature    228..230
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q01065; propagated from
                     UniProtKB/Swiss-Prot (Q01064.2); phosphorylation site"
     misc_feature    264..326
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01064.2);
                     Region: Calmodulin-binding.
                     /evidence=ECO:0000250|UniProtKB:P14100"
     misc_feature    537..608
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01064.2);
                     Region: Calmodulin-binding.
                     /evidence=ECO:0000250|UniProtKB:P14100"
     misc_feature    1524..1607
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01064.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1581..1583
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q01065; propagated from
                     UniProtKB/Swiss-Prot (Q01064.2); phosphorylation site"
     misc_feature    1665..1793
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01064.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1725..1727
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q01065; propagated from
                     UniProtKB/Swiss-Prot (Q01064.2); phosphorylation site"
     regulatory      3174..3179
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /note="hexamer: AATAAA"
     polyA_site      3193
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /note="major polyA site"
ORIGIN
        1 agcgcgcggc ggcggcggcg gtagcggcag cagcagcggc ggtgcggaga gcttggactg
       61 ggagcccaaa gctcggctgg gcagcgggag aggaggagcc gcaggagctg cagctctgcc
      121 agcttgggcc gagcctagag acaccggcct ggctggtcca cgccagccgc agaccgtggc
      181 tgagcatgga gctgtccccc cgcagtcctc cggagatgct ggaggagtcg gattgcccgt
      241 cacccctgga gctgaagtca gcccccagca agaagatgtg gattaagctt cggtctctgc
      301 tgcgctacat ggtgaagcag ttggagaatg gggagataaa cattgaggag ctgaagaaaa
      361 atctggagta cacagcttct ctgctggaag ccgtctacat agatgagaca cggcaaatct
      421 tggacacgga ggacgagctg caggagctgc ggtcagatgc cgtgccttcg gaggtgcggg
      481 actggctggc ctccaccttc acccagcagg cccgggccaa aggccgccga gcagaggaga
      541 agcccaagtt ccgaagcatt gtgcacgctg tgcaggctgg gatcttcgtg gaacggatgt
      601 tccggagaac atacacctct gtgggcccca cttactctac tgcggttctc aactgtctca
      661 agaacctgga tctctggtgc tttgatgtct tttccttgaa ccaggcagca gatgaccatg
      721 ccctgaggac cattgttttt gagttgctga ctcggcataa cctcatcagc cgcttcaaga
      781 ttcccactgt gtttttgatg agtttcctgg atgccttgga gacaggctat gggaagtaca
      841 agaatcctta ccacaaccag atccacgcag ccgatgttac ccagacagtc cattgcttct
      901 tgctccgcac agggatggtg cactgcctgt cggagattga gctcctggcc atcatctttg
      961 ctgcagctat ccatgattat gagcacacgg gcactaccaa cagcttccac atccagacca
     1021 agtcagaatg tgccatcgtg tacaatgatc gttcagtgct ggagaatcac cacatcagct
     1081 ctgttttccg attgatgcag gatgatgaga tgaacatttt catcaacctc accaaggatg
     1141 agtttgtaga actccgagcc ctggtcattg agatggtgtt ggccacagac atgtcctgcc
     1201 atttccagca agtgaagacc atgaagacag ccttgcaaca gctggagagg attgacaagc
     1261 ccaaggccct gtctctactg ctccatgctg ctgacatcag ccacccaacc aagcagtggt
     1321 tggtccacag ccgttggacc aaggccctca tggaggaatt cttccgtcag ggtgacaagg
     1381 aggcagagtt gggcctgccc ttttctccac tctgtgaccg cacttccact ctagtggcac
     1441 agtctcagat agggttcatc gacttcattg tggagcccac attctctgtg ctgactgacg
     1501 tggcagagaa gagtgttcag cccctggcgg atgaggactc caagtctaaa aaccagccca
     1561 gctttcagtg gcgccagccc tctctggatg tggaagtggg agaccccaac cctgatgtgg
     1621 tcagctttcg ttccacctgg gtcaagcgca ttcaggagaa taagcagaaa tggaaggaac
     1681 gggcagcaag tggcatcacc aaccagatgt ccattgacga gctgtccccc tgtgaagaag
     1741 aggccccccc atcccctgcc gaagatgaac acaaccagaa tgggaatctg gattagccct
     1801 ggggctggcc caggtcttca ttgagtccaa agtgtttgat gtcatcagca ccatccatca
     1861 ggactggctc ccccatctgc tccaagggag cgtggtcgtg gaagaaacaa cccacctgaa
     1921 ggccaaatgc cagagatttg gggttgggga aagggcccct ccccacctga cacccactgg
     1981 ggtgcacttt aatgttccgg cagcaagact ggggaacttc aggctcccag tggtcactgt
     2041 gcccatccct cagcctctgg attctcttca tggccaggtg gctgccaggg agcggggagc
     2101 ttcctggagg cttcccaggg ccttggggaa gggtcagaga tgccagcccc ctgggacctc
     2161 ccccatcctt tttgcctcca agtttctaag caatacattt tgggggttcc ctcagccccc
     2221 caccccagat cttagctggc aggtctgggt gccccttttc ctcccctggg aagggctgga
     2281 ataggataga aagctggggg ttttcagagc cctatgtgtg gggaggggag tggattcctt
     2341 cagggcatgg tacctttcta ggacctggga atggggtgga gaggacatcc tcttcacccc
     2401 agaattgcgc tgcttcagcc ccatctccag cctgatcctc tgaatcttcc ttccctccct
     2461 ttctgataca gtgactgggg caaaaggagc cattgtgacc aggggctgcg ggaggccttt
     2521 cctgggacct tccttgggac tggtctgggc ccctggggct tgtcgcctgc cctgagtccg
     2581 gagccctttg cctccttcct ctcccctggg gctgggaggc tccatccgac caatgtctgt
     2641 aaagtgcttt gaggatctcc ccagcaaagc accttcagaa tgtatcgaca ccagctgggt
     2701 tagggtcaag ggtgcctggg gagggtgagt aatcctgcat tgctaaaaga gagggtctgt
     2761 cccctcctct ccacgtccca gaactggccc agctgcaggc actaagaagc tcctcccctg
     2821 agacaagtga ggggtagtcg gtgaaaggca gatggacaag gggctcaggg ctgctgcctt
     2881 cctgtcctct ggagagaacc cagccaggcg cggtgcccct tcctctcctc aggctcctcc
     2941 ttgcccccac cttgccccag gaaaggccaa agtccaggtg actgccctcc ttctttcttg
     3001 taaataccaa ccatgcattt gtacagtggg ccctgttcat gcgaaatcca catccatggt
     3061 ctcctagacc tgctaccctg gtacttccac cctaccccac cccgagaagg gcagagacgc
     3121 atgtgactca cccctgccct tggtttccca gacccctgct atagccagag aacaataaag
     3181 aagggagacc agg
//
LOCUS       NM_000925               1507 bp    mRNA    linear   PRI 06-JUL-2023
DEFINITION  Homo sapiens pyruvate dehydrogenase E1 subunit beta (PDHB),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000925
VERSION     NM_000925.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1507)
  AUTHORS   Wu J, Wang S, Liu Y, Zhang T, Wang X and Miao C.
  TITLE     Integrated single-cell and bulk characterization of cuproptosis key
            regulator PDHB and association with tumor microenvironment
            infiltration in clear cell renal cell carcinoma
  JOURNAL   Front Immunol 14, 1132661 (2023)
   PUBMED   37350959
  REMARK    GeneRIF: Integrated single-cell and bulk characterization of
            cuproptosis key regulator PDHB and association with tumor
            microenvironment infiltration in clear cell renal cell carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1507)
  AUTHORS   Jiang X, Ji S, Yuan F, Li T, Cui S, Wang W, Ye X, Wang R, Chen Y and
            Zhu S.
  TITLE     Pyruvate dehydrogenase B regulates myogenic differentiation via the
            FoxP1-Arih2 axis
  JOURNAL   J Cachexia Sarcopenia Muscle 14 (1), 606-621 (2023)
   PUBMED   36564038
  REMARK    GeneRIF: Pyruvate dehydrogenase B regulates myogenic differentiation
            via the FoxP1-Arih2 axis.
REFERENCE   3  (bases 1 to 1507)
  AUTHORS   Yonashiro R, Eguchi K, Wake M, Takeda N and Nakayama K.
  TITLE     Pyruvate Dehydrogenase PDH-E1beta Controls Tumor Progression by
            Altering the Metabolic Status of Cancer Cells
  JOURNAL   Cancer Res 78 (7), 1592-1603 (2018)
   PUBMED   29436427
  REMARK    GeneRIF: Building on evidence that PDH activity depends on the
            stability of a multi-protein PDH complex, the authors found that the
            PDH-E1beta subunit of the PDH complex is downregulated to inhibit
            PDH activity under conditions of prolonged hypoxia which establishs
            the specific mechanism through which PDH acts as an oncogenic factor
            by tuning glycolytic metabolism in cancer cells.
REFERENCE   4  (bases 1 to 1507)
  AUTHORS   Malty RH, Aoki H, Kumar A, Phanse S, Amin S, Zhang Q, Minic Z,
            Goebels F, Musso G, Wu Z, Abou-Tok H, Meyer M, Deineko V, Kassir S,
            Sidhu V, Jessulat M, Scott NE, Xiong X, Vlasblom J, Prasad B, Foster
            LJ, Alberio T, Garavaglia B, Yu H, Bader GD, Nakamura K, Parkinson J
            and Babu M.
  TITLE     A Map of Human Mitochondrial Protein Interactions Linked to
            Neurodegeneration Reveals New Mechanisms of Redox Homeostasis and
            NF-kappaB Signaling
  JOURNAL   Cell Syst 5 (6), 564-577 (2017)
   PUBMED   29128334
REFERENCE   5  (bases 1 to 1507)
  AUTHORS   Tang H, Luo X, Li J, Zhou Y, Li Y, Song L, Zhang X and Chen T.
  TITLE     Pyruvate dehydrogenase B promoted the growth and migration of the
            nasopharyngeal carcinoma cells
  JOURNAL   Tumour Biol 37 (8), 10563-10569 (2016)
   PUBMED   26857147
  REMARK    GeneRIF: PDHB was downregulated in nasopharyngeal carcinoma cells.
            Forced expression of PDHB in NPC cells inhibited cell growth and
            migration, while knocking down the expression of PDHB promoted the
            growth, migration, and tumorigenesis of NPC cells. PDHB inhibited
            ERK signaling and cell growth driven by RasV12.
REFERENCE   6  (bases 1 to 1507)
  AUTHORS   Ganetzky,R., McCormick,E.M. and Falk,M.J.
  TITLE     Primary Pyruvate Dehydrogenase Complex Deficiency Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   34138529
REFERENCE   7  (bases 1 to 1507)
  AUTHORS   Chun K, Mackay N, Willard HF and Robinson BH.
  TITLE     Isolation, characterization and chromosomal localization of cDNA
            clones for the E1 beta subunit of the pyruvate dehydrogenase complex
  JOURNAL   Eur J Biochem 194 (2), 587-592 (1990)
   PUBMED   1702713
REFERENCE   8  (bases 1 to 1507)
  AUTHORS   Ho L and Patel MS.
  TITLE     Cloning and cDNA sequence of the beta-subunit component of human
            pyruvate dehydrogenase complex
  JOURNAL   Gene 86 (2), 297-302 (1990)
   PUBMED   2323578
REFERENCE   9  (bases 1 to 1507)
  AUTHORS   Olson S, Song BJ, Huh TL, Chi YT, Veech RL and McBride OW.
  TITLE     Three genes for enzymes of the pyruvate dehydrogenase complex map to
            human chromosomes 3, 7, and X
  JOURNAL   Am J Hum Genet 46 (2), 340-349 (1990)
   PUBMED   1967901
  REMARK    Erratum:[Am J Hum Genet 1990 Jun;46(6):1235]
REFERENCE   10  (bases 1 to 1507)
  AUTHORS   Muno D, Kominami E, Ishii H, Usui K, Saifuku K, Sakakibara Y and
            Namihisa T.
  TITLE     Isolation of tryptic fragment of antigen from mitochondrial inner
            membrane proteins reacting with antimitochondrial antibody in sera
            of patients with primary biliary cirrhosis
  JOURNAL   Hepatology 11 (1), 16-23 (1990)
   PUBMED   2295468
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK225621.1, SRR5189658.106232.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2146411 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000302746.11/ ENSP00000307241.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135507.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000925.3.
            Summary: The pyruvate dehydrogenase (PDH) complex is a
            nuclear-encoded mitochondrial multienzyme complex that catalyzes
            the overall conversion of pyruvate to acetyl-CoA and carbon
            dioxide, and provides the primary link between glycolysis and the
            tricarboxylic acid (TCA) cycle. The PDH complex is composed of
            multiple copies of three enzymatic components: pyruvate
            dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and
            lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of
            two alpha and two beta subunits. This gene encodes the E1 beta
            subunit. Mutations in this gene are associated with pyruvate
            dehydrogenase E1-beta deficiency. Alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, Mar
            2012].
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1507
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.3"
     gene            1..1507
                     /gene="PDHB"
                     /gene_synonym="E1beta; PDHBD; PDHE1-B; PDHE1B; PHE1B"
                     /note="pyruvate dehydrogenase E1 subunit beta"
                     /db_xref="GeneID:5162"
                     /db_xref="HGNC:HGNC:8808"
                     /db_xref="MIM:179060"
     CDS             24..1103
                     /gene="PDHB"
                     /gene_synonym="E1beta; PDHBD; PDHE1-B; PDHE1B; PHE1B"
                     /EC_number="1.2.4.1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; pyruvate dehydrogenase E1 component subunit beta,
                     mitochondrial; pyruvate dehydrogenase, E1 beta polypeptide;
                     pyruvate dehydrogenase (lipoamide) beta; epididymis
                     secretory sperm binding protein; pyruvate dehydrogenase E1
                     beta subunit"
                     /codon_start=1
                     /product="pyruvate dehydrogenase E1 component subunit beta,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_000916.2"
                     /db_xref="CCDS:CCDS2890.1"
                     /db_xref="GeneID:5162"
                     /db_xref="HGNC:HGNC:8808"
                     /db_xref="MIM:179060"
                     /translation="MAAVSGLVRRPLREVSGLLKRRFHWTAPAALQVTVRDAINQGMDE
                     ELERDEKVFLLGEEVAQYDGAYKVSRGLWKKYGDKRIIDTPISEMGFAGIAVGAAMAGL
                     RPICEFMTFNFSMQAIDQVINSAAKTYYMSGGLQPVPIVFRGPNGASAGVAAQHSQCFA
                     AWYGHCPGLKVVSPWNSEDAKGLIKSAIRDNNPVVVLENELMYGVPFEFPPEAQSKDFL
                     IPIGKAKIERQGTHITVVSHSRPVGHCLEAAAVLSKEGVECEVINMRTIRPMDMETIEA
                     SVMKTNHLVTVEGGWPQFGVGAEICARIMEGPAFNFLDAPAVRVTGADVPMPYAKILED
                     NSIPQVKDIIFAIKKTLNI"
     transit_peptide 24..113
                     /gene="PDHB"
                     /gene_synonym="E1beta; PDHBD; PDHE1-B; PDHE1B; PHE1B"
     mat_peptide     114..1100
                     /gene="PDHB"
                     /gene_synonym="E1beta; PDHBD; PDHE1-B; PDHE1B; PHE1B"
                     /product="pyruvate dehydrogenase E1 component subunit beta,
                     mitochondrial isoform 1"
     misc_feature    222..224
                     /gene="PDHB"
                     /gene_synonym="E1beta; PDHBD; PDHE1-B; PDHE1B; PHE1B"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q9D051; propagated from
                     UniProtKB/Swiss-Prot (P11177.3); phosphorylation site"
     misc_feature    978..980
                     /gene="PDHB"
                     /gene_synonym="E1beta; PDHBD; PDHE1-B; PDHE1B; PHE1B"
                     /note="Important for interaction with DLAT.
                     /evidence=ECO:0000269|PubMed:20160912; propagated from
                     UniProtKB/Swiss-Prot (P11177.3); other site"
     misc_feature    1083..1085
                     /gene="PDHB"
                     /gene_synonym="E1beta; PDHBD; PDHE1-B; PDHE1B; PHE1B"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9D051; propagated from
                     UniProtKB/Swiss-Prot (P11177.3); acetylation site"
     regulatory      1091..1096
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDHB"
                     /gene_synonym="E1beta; PDHBD; PDHE1-B; PDHE1B; PHE1B"
                     /note="hexamer: ATTAAA"
     polyA_site      1115
                     /gene="PDHB"
                     /gene_synonym="E1beta; PDHBD; PDHE1-B; PDHE1B; PHE1B"
                     /note="major polyA site"
     regulatory      1440..1445
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDHB"
                     /gene_synonym="E1beta; PDHBD; PDHE1-B; PDHE1B; PHE1B"
                     /note="hexamer: ATTAAA"
     polyA_site      1459
                     /gene="PDHB"
                     /gene_synonym="E1beta; PDHBD; PDHE1-B; PDHE1B; PHE1B"
     regulatory      1486..1491
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDHB"
                     /gene_synonym="E1beta; PDHBD; PDHE1-B; PDHE1B; PHE1B"
                     /note="hexamer: AATAAA"
     polyA_site      1507
                     /gene="PDHB"
                     /gene_synonym="E1beta; PDHBD; PDHE1-B; PDHE1B; PHE1B"
                     /note="major polyA site"
ORIGIN
        1 agcggataga ggacacgacc aagatggcgg cggtgtctgg cttggtgcgg agaccccttc
       61 gggaggtctc cgggctgctg aagaggcgct ttcactggac cgcgccggct gcgctgcagg
      121 tgacagttcg tgatgctata aatcagggta tggatgagga gctggaaaga gatgagaagg
      181 tatttctgct tggagaagaa gttgcccagt atgatggggc atacaaggtt agtcgagggc
      241 tgtggaagaa atatggagac aagaggatta ttgacactcc catatcagag atgggctttg
      301 ctggaattgc tgtaggtgca gctatggctg ggttgcggcc catttgtgaa tttatgacct
      361 tcaatttctc catgcaagcc attgaccagg ttataaactc agctgccaag acctactaca
      421 tgtctggtgg ccttcagcct gtgcctatag tcttcagagg gcccaatggt gcctcagcag
      481 gtgtagctgc ccagcactca cagtgctttg ctgcctggta tgggcactgc ccaggcttaa
      541 aggtggtcag tccctggaat tcagaggatg ctaaaggact tattaaatca gccattcggg
      601 ataacaatcc agtggtggtg ctagagaatg aattgatgta tggggttcct tttgaatttc
      661 ctccggaagc tcagtcaaaa gattttctga ttcctattgg aaaagccaaa atagaaaggc
      721 aaggaacaca tataactgtg gtttcccatt caagacctgt gggccactgc ttagaagctg
      781 cagcagtgct atctaaagaa ggagttgaat gtgaggtgat aaatatgcgt accattagac
      841 caatggacat ggaaaccata gaagccagtg tcatgaagac aaatcatctt gtaactgtgg
      901 aaggaggctg gccacagttt ggagtaggag ctgaaatctg tgccaggatc atggaaggtc
      961 ctgcgttcaa tttcctggat gctcctgctg ttcgtgtcac tggtgctgat gtccctatgc
     1021 cttatgcaaa gattctagag gacaactcta tacctcaggt caaagacatc atatttgcaa
     1081 taaagaaaac attaaatatt tagtttggac ttgaatatca agtcgttgaa atttatttga
     1141 aatacttgct ggcactgcac ctggatttgt actgcaagac ctgactattc ataacggaaa
     1201 acgatttcta aagcaacagc aggtattttt gtacagggaa gtttaaatgt gtttgtgtat
     1261 ggaaaactct ccactctcct cccctagatg ccatgcttcc ttttgtctgt tacggttgcc
     1321 atgttctttg aataacaaat tatataacat tttatcctct ctcaccacaa ggacaaagta
     1381 tggatgtggc agagtcctca tgaaagatgt atccaaacaa gataacttat atgtataaaa
     1441 ttaaagcata taatatacat ttactgttag tttgttttga taaggaataa aggaatttct
     1501 aacatga
//
LOCUS       NM_000926              13037 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens progesterone receptor (PGR), transcript variant 2,
            mRNA.
ACCESSION   NM_000926
VERSION     NM_000926.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 13037)
  AUTHORS   Salimian M, Mohamadynejad P and Moghanibashi M.
  TITLE     Association of Val660Leu, progesterone receptor polymorphic variant,
            with susceptibility to RRMS disease
  JOURNAL   Neurol Res 45 (8), 725-729 (2023)
   PUBMED   37061938
  REMARK    GeneRIF: Association of Val660Leu, progesterone receptor polymorphic
            variant, with susceptibility to RRMS disease.
REFERENCE   2  (bases 1 to 13037)
  AUTHORS   Fan Y, Zhong X, Wang Y, Wang Z, Luo T, Wang Y and Zheng H.
  TITLE     A prospective cohort study of clinical characteristics and outcomes
            in Chinese patients with estrogen receptor-negative/progesterone
            receptor-positive early breast cancer
  JOURNAL   Breast Cancer Res Treat 200 (2), 171-182 (2023)
   PUBMED   37199804
  REMARK    GeneRIF: A prospective cohort study of clinical characteristics and
            outcomes in Chinese patients with estrogen
            receptor-negative/progesterone receptor-positive early breast
            cancer.
REFERENCE   3  (bases 1 to 13037)
  AUTHORS   Asavasupreechar T, Saito-Koyama R, Miki Y, Tamai K, Abe J, Inoue C,
            Sato I, Boonyaratanakornkit V and Sasano H.
  TITLE     PRB inhibited cell proliferation through let-7b-E2F1 in breast
            cancer
  JOURNAL   Endocr Relat Cancer 30 (7), e220204 (2023)
   PUBMED   37130271
  REMARK    GeneRIF: PRB inhibited cell proliferation through let-7b-E2F1 in
            breast cancer. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 13037)
  AUTHORS   Xia Q, Li F, Min R, Sun S, Han YX, Feng ZZ and Li N.
  TITLE     Malignancy risk factors and prognostic variables of pancreatic
            mucinous cystic neoplasms in Chinese patients
  JOURNAL   World J Gastroenterol 29 (20), 3119-3132 (2023)
   PUBMED   37346158
  REMARK    GeneRIF: Malignancy risk factors and prognostic variables of
            pancreatic mucinous cystic neoplasms in Chinese patients.
REFERENCE   5  (bases 1 to 13037)
  AUTHORS   Cheng RYS, Ridnour LA, Wink AL, Gonzalez AL, Femino EL, Rittscher H,
            Somasundaram V, Heinz WF, Coutinho L, Rangel MC, Edmondson EF,
            Butcher D, Kinders RJ, Li X, Wong STC, McVicar DW, Anderson SK, Pore
            M, Hewitt SM, Billiar TR, Glynn SA, Chang JC, Lockett SJ, Ambs S and
            Wink DA.
  TITLE     Interferon-gamma is quintessential for NOS2 and COX2 expression in
            ER- breast tumors that lead to poor outcome
  JOURNAL   Cell Death Dis 14 (5), 319 (2023)
   PUBMED   37169743
  REMARK    GeneRIF: Interferon-gamma is quintessential for NOS2 and COX2
            expression in ER[-] breast tumors that lead to poor outcome.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 13037)
  AUTHORS   Ing NH, Beekman JM, Tsai SY, Tsai MJ and O'Malley BW.
  TITLE     Members of the steroid hormone receptor superfamily interact with
            TFIIB (S300-II)
  JOURNAL   J Biol Chem 267 (25), 17617-17623 (1992)
   PUBMED   1517211
REFERENCE   7  (bases 1 to 13037)
  AUTHORS   Bagchi MK, Tsai SY, Tsai MJ and O'Malley BW.
  TITLE     Ligand and DNA-dependent phosphorylation of human progesterone
            receptor in vitro
  JOURNAL   Proc Natl Acad Sci U S A 89 (7), 2664-2668 (1992)
   PUBMED   1557371
REFERENCE   8  (bases 1 to 13037)
  AUTHORS   Kastner P, Krust A, Turcotte B, Stropp U, Tora L, Gronemeyer H and
            Chambon P.
  TITLE     Two distinct estrogen-regulated promoters generate transcripts
            encoding the two functionally different human progesterone receptor
            forms A and B
  JOURNAL   EMBO J 9 (5), 1603-1614 (1990)
   PUBMED   2328727
REFERENCE   9  (bases 1 to 13037)
  AUTHORS   Guiochon-Mantel A, Loosfelt H, Lescop P, Sar S, Atger M,
            Perrot-Applanat M and Milgrom E.
  TITLE     Mechanisms of nuclear localization of the progesterone receptor:
            evidence for interaction between monomers
  JOURNAL   Cell 57 (7), 1147-1154 (1989)
   PUBMED   2736623
REFERENCE   10  (bases 1 to 13037)
  AUTHORS   Misrahi,M., Atger,M., d'Auriol,L., Loosfelt,H., Meriel,C.,
            Fridlansky,F., Guiochon-Mantel,A., Galibert,F. and Milgrom,E.
  TITLE     Complete amino acid sequence of the human progesterone receptor
            deduced from cloned cDNA
  JOURNAL   Biochem Biophys Res Commun 143 (2), 740-748 (1987)
   PUBMED   3551956
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X51730.1, SRR14038192.2587752.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000325455.10/ ENSP00000325120.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Raymond Dalgleish. The reference sequence was
            derived from AP001533.4 and M15716.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 16, 2007 this sequence version replaced NM_000926.3.
            Summary: This gene encodes a member of the steroid receptor
            superfamily. The encoded protein mediates the physiological effects
            of progesterone, which plays a central role in reproductive events
            associated with the establishment and maintenance of pregnancy.
            This gene uses two distinct promotors and translation start sites
            in the first exon to produce several transcript variants, both
            protein coding and non-protein coding. Two of the isoforms (A and
            B) are identical except for an additional 165 amino acids found in
            the N-terminus of isoform B and mediate their own response genes
            and physiologic effects with little overlap. [provided by RefSeq,
            Sep 2015].
            Transcript Variant: This variant (2) represents the longer
            transcript and encodes the longer isoform (B).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..13037
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.1"
     gene            1..13037
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="progesterone receptor"
                     /db_xref="GeneID:5241"
                     /db_xref="HGNC:HGNC:8910"
                     /db_xref="MIM:607311"
     misc_feature    540..542
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="upstream in-frame stop codon"
     CDS             744..3545
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="isoform B is encoded by transcript variant 2;
                     nuclear receptor subfamily 3 group C member 3"
                     /codon_start=1
                     /product="progesterone receptor isoform B"
                     /protein_id="NP_000917.3"
                     /db_xref="CCDS:CCDS8310.1"
                     /db_xref="GeneID:5241"
                     /db_xref="HGNC:HGNC:8910"
                     /db_xref="MIM:607311"
                     /translation="MTELKAKGPRAPHVAGGPPSPEVGSPLLCRPAAGPFPGSQTSDTL
                     PEVSAIPISLDGLLFPRPCQGQDPSDEKTQDQQSLSDVEGAYSRAEATRGAGGSSSSPP
                     EKDSGLLDSVLDTLLAPSGPGQSQPSPPACEVTSSWCLFGPELPEDPPAAPATQRVLSP
                     LMSRSGCKVGDSSGTAAAHKVLPRGLSPARQLLLPASESPHWSGAPVKPSPQAAAVEVE
                     EEDGSESEESAGPLLKGKPRALGGAAAGGGAAAVPPGAAAGGVALVPKEDSRFSAPRVA
                     LVEQDAPMAPGRSPLATTVMDFIHVPILPLNHALLAARTRQLLEDESYDGGAGAASAFA
                     PPRSSPCASSTPVAVGDFPDCAYPPDAEPKDDAYPLYSDFQPPALKIKEEEEGAEASAR
                     SPRSYLVAGANPAAFPDFPLGPPPPLPPRATPSRPGEAAVTAAPASASVSSASSSGSTL
                     ECILYKAEGAPPQQGPFAPPPCKAPGASGCLLPRDGLPSTSASAAAAGAAPALYPALGL
                     NGLPQLGYQAAVLKEGLPQVYPPYLNYLRPDSEASQSPQYSFESLPQKICLICGDEASG
                     CHYGVLTCGSCKVFFKRAMEGQHNYLCAGRNDCIVDKIRRKNCPACRLRKCCQAGMVLG
                     GRKFKKFNKVRVVRALDAVALPQPVGVPNESQALSQRFTFSPGQDIQLIPPLINLLMSI
                     EPDVIYAGHDNTKPDTSSSLLTSLNQLGERQLLSVVKWSKSLPGFRNLHIDDQITLIQY
                     SWMSLMVFGLGWRSYKHVSGQMLYFAPDLILNEQRMKESSFYSLCLTMWQIPQEFVKLQ
                     VSQEEFLCMKVLLLLNTIPLEGLRSQTQFEEMRSSYIRELIKAIGLRQKGVVSSSQRFY
                     QLTKLLDNLHDLVKQLHLYCLNTFIQSRALSVEFPEMMSEVIAAQLPKILAGMVKPLLF
                     HKK"
     misc_feature    744..2441
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="propagated from UniProtKB/Swiss-Prot (P06401.4);
                     Region: Modulating, Pro-Rich"
     misc_feature    744..1235
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="propagated from UniProtKB/Swiss-Prot (P06401.4);
                     Region: AF3, mediates transcriptional activation (in
                     isoform B). /evidence=ECO:0000269|PubMed:11546784"
     misc_feature    744..1214
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="propagated from UniProtKB/Swiss-Prot (P06401.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    801..803
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:11110801; propagated from
                     UniProtKB/Swiss-Prot (P06401.4); phosphorylation site"
     misc_feature    906..920
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="propagated from UniProtKB/Swiss-Prot (P06401.4);
                     Region: LXXL motif 1.
                     /evidence=ECO:0000305|PubMed:11546784"
     misc_feature    984..986
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:7476977,
                     ECO:0000269|PubMed:8702648; propagated from
                     UniProtKB/Swiss-Prot (P06401.4); phosphorylation site"
     misc_feature    1047..1049
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:11110801,
                     ECO:0000269|PubMed:8702648; propagated from
                     UniProtKB/Swiss-Prot (P06401.4); phosphorylation site"
     misc_feature    1086..1100
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="propagated from UniProtKB/Swiss-Prot (P06401.4);
                     Region: LXXL motif 2.
                     /evidence=ECO:0000305|PubMed:11546784"
     misc_feature    1131..1133
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:11110801; propagated from
                     UniProtKB/Swiss-Prot (P06401.4); phosphorylation site"
     misc_feature    1227..1229
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:11110801,
                     ECO:0000269|PubMed:15798179, ECO:0000269|PubMed:7476977,
                     ECO:0000269|PubMed:8702648, ECO:0000269|PubMed:9171245,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P06401.4); phosphorylation site"
     misc_feature    1236..1658
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="propagated from UniProtKB/Swiss-Prot (P06401.4);
                     Region: Mediates transcriptional transrepression (in
                     isoform A). /evidence=ECO:0000269|PubMed:9407067"
     misc_feature    1290..1304
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="propagated from UniProtKB/Swiss-Prot (P06401.4);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     misc_feature    1311..1313
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:10628747,
                     ECO:0000269|PubMed:11110801, ECO:0000269|PubMed:15798179,
                     ECO:0000269|PubMed:9171245; propagated from
                     UniProtKB/Swiss-Prot (P06401.4); phosphorylation site"
     misc_feature    1326..1466
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="propagated from UniProtKB/Swiss-Prot (P06401.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1380..1382
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:11110801; propagated from
                     UniProtKB/Swiss-Prot (P06401.4); phosphorylation site"
     misc_feature    1623..1625
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="Phosphoserine, by MAPK1.
                     /evidence=ECO:0000269|PubMed:10628747,
                     ECO:0000269|PubMed:10655479, ECO:0000269|PubMed:15798179,
                     ECO:0000269|PubMed:17173941, ECO:0000269|PubMed:17717077,
                     ECO:0000269|PubMed:18202149, ECO:0000269|PubMed:8702648;
                     propagated from UniProtKB/Swiss-Prot (P06401.4);
                     phosphorylation site"
     misc_feature    1734..1796
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="propagated from UniProtKB/Swiss-Prot (P06401.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1776..1778
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="Phosphoserine, by MAPK.
                     /evidence=ECO:0000269|PubMed:11110801,
                     ECO:0000269|PubMed:18202149, ECO:0000269|PubMed:8702648;
                     propagated from UniProtKB/Swiss-Prot (P06401.4);
                     phosphorylation site"
     misc_feature    1941..1943
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="Phosphoserine, by CDK2.
                     /evidence=ECO:0000269|PubMed:15572662,
                     ECO:0000269|PubMed:18202149, ECO:0000269|PubMed:9171245;
                     propagated from UniProtKB/Swiss-Prot (P06401.4);
                     phosphorylation site"
     misc_feature    1986..2099
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="propagated from UniProtKB/Swiss-Prot (P06401.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2109..2381
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="propagated from UniProtKB/Swiss-Prot (P06401.4);
                     Region: AF1, mediates transcriptional activation.
                     /evidence=ECO:0000269|PubMed:1587864"
     misc_feature    2769..2771
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:11110801; propagated from
                     UniProtKB/Swiss-Prot (P06401.4); phosphorylation site"
     misc_feature    2802..3542
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="propagated from UniProtKB/Swiss-Prot (P06401.4);
                     Region: AF2, mediates transcriptional activation.
                     /evidence=ECO:0000269|PubMed:1587864"
     regulatory      6011..6016
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="hexamer: AATAAA"
     polyA_site      6034
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="major polyA site"
     regulatory      13015..13020
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="hexamer: AATAAA"
     polyA_site      13037
                     /gene="PGR"
                     /gene_synonym="NR3C3; PR"
                     /note="major polyA site"
ORIGIN
        1 agtccacagc tgtcactaat cggggtaagc cttgttgtat ttgtgcgtgt gggtggcatt
       61 ctcaatgaga actagcttca cttgtcattt gagtgaaatc tacaacccga ggcggctagt
      121 gctcccgcac tactgggatc tgagatcttc ggagatgact gtcgcccgca gtacggagcc
      181 agcagaagtc cgacccttcc tgggaatggg ctgtaccgag aggtccgact agccccaggg
      241 ttttagtgag ggggcagtgg aactcagcga gggactgaga gcttcacagc atgcacgagt
      301 ttgatgccag agaaaaagtc gggagataaa ggagccgcgt gtcactaaat tgccgtcgca
      361 gccgcagcca ctcaagtgcc ggacttgtga gtactctgcg tctccagtcc tcggacagaa
      421 gttggagaac tctcttggag aactccccga gttaggagac gagatctcct aacaattact
      481 actttttctt gcgctcccca cttgccgctc gctgggacaa acgacagcca cagttcccct
      541 gacgacagga tggaggccaa gggcaggagc tgaccagcgc cgccctcccc cgcccccgac
      601 ccaggaggtg gagatccctc cggtccagcc acattcaaca cccactttct cctccctctg
      661 cccctatatt cccgaaaccc cctcctcctt cccttttccc tcctcctgga gacgggggag
      721 gagaaaaggg gagtccagtc gtcatgactg agctgaaggc aaagggtccc cgggctcccc
      781 acgtggcggg cggcccgccc tcccccgagg tcggatcccc actgctgtgt cgcccagccg
      841 caggtccgtt cccggggagc cagacctcgg acaccttgcc tgaagtttcg gccataccta
      901 tctccctgga cgggctactc ttccctcggc cctgccaggg acaggacccc tccgacgaaa
      961 agacgcagga ccagcagtcg ctgtcggacg tggagggcgc atattccaga gctgaagcta
     1021 caaggggtgc tggaggcagc agttctagtc ccccagaaaa ggacagcgga ctgctggaca
     1081 gtgtcttgga cactctgttg gcgccctcag gtcccgggca gagccaaccc agccctcccg
     1141 cctgcgaggt caccagctct tggtgcctgt ttggccccga acttcccgaa gatccaccgg
     1201 ctgcccccgc cacccagcgg gtgttgtccc cgctcatgag ccggtccggg tgcaaggttg
     1261 gagacagctc cgggacggca gctgcccata aagtgctgcc ccggggcctg tcaccagccc
     1321 ggcagctgct gctcccggcc tctgagagcc ctcactggtc cggggcccca gtgaagccgt
     1381 ctccgcaggc cgctgcggtg gaggttgagg aggaggatgg ctctgagtcc gaggagtctg
     1441 cgggtccgct tctgaagggc aaacctcggg ctctgggtgg cgcggcggct ggaggaggag
     1501 ccgcggctgt cccgccgggg gcggcagcag gaggcgtcgc cctggtcccc aaggaagatt
     1561 cccgcttctc agcgcccagg gtcgccctgg tggagcagga cgcgccgatg gcgcccgggc
     1621 gctccccgct ggccaccacg gtgatggatt tcatccacgt gcctatcctg cctctcaatc
     1681 acgccttatt ggcagcccgc actcggcagc tgctggaaga cgaaagttac gacggcgggg
     1741 ccggggctgc cagcgccttt gccccgccgc ggagttcacc ctgtgcctcg tccaccccgg
     1801 tcgctgtagg cgacttcccc gactgcgcgt acccgcccga cgccgagccc aaggacgacg
     1861 cgtaccctct ctatagcgac ttccagccgc ccgctctaaa gataaaggag gaggaggaag
     1921 gcgcggaggc ctccgcgcgc tccccgcgtt cctaccttgt ggccggtgcc aaccccgcag
     1981 ccttcccgga tttcccgttg gggccaccgc ccccgctgcc gccgcgagcg accccatcca
     2041 gacccgggga agcggcggtg acggccgcac ccgccagtgc ctcagtctcg tctgcgtcct
     2101 cctcggggtc gaccctggag tgcatcctgt acaaagcgga gggcgcgccg ccccagcagg
     2161 gcccgttcgc gccgccgccc tgcaaggcgc cgggcgcgag cggctgcctg ctcccgcggg
     2221 acggcctgcc ctccacctcc gcctctgccg ccgccgccgg ggcggccccc gcgctctacc
     2281 ctgcactcgg cctcaacggg ctcccgcagc tcggctacca ggccgccgtg ctcaaggagg
     2341 gcctgccgca ggtctacccg ccctatctca actacctgag gccggattca gaagccagcc
     2401 agagcccaca atacagcttc gagtcattac ctcagaagat ttgtttaatc tgtggggatg
     2461 aagcatcagg ctgtcattat ggtgtcctta cctgtgggag ctgtaaggtc ttctttaaga
     2521 gggcaatgga agggcagcac aactacttat gtgctggaag aaatgactgc atcgttgata
     2581 aaatccgcag aaaaaactgc ccagcatgtc gccttagaaa gtgctgtcag gctggcatgg
     2641 tccttggagg tcgaaaattt aaaaagttca ataaagtcag agttgtgaga gcactggatg
     2701 ctgttgctct cccacagcca gtgggcgttc caaatgaaag ccaagcccta agccagagat
     2761 tcactttttc accaggtcaa gacatacagt tgattccacc actgatcaac ctgttaatga
     2821 gcattgaacc agatgtgatc tatgcaggac atgacaacac aaaacctgac acctccagtt
     2881 ctttgctgac aagtcttaat caactaggcg agaggcaact tctttcagta gtcaagtggt
     2941 ctaaatcatt gccaggtttt cgaaacttac atattgatga ccagataact ctcattcagt
     3001 attcttggat gagcttaatg gtgtttggtc taggatggag atcctacaaa cacgtcagtg
     3061 ggcagatgct gtattttgca cctgatctaa tactaaatga acagcggatg aaagaatcat
     3121 cattctattc attatgcctt accatgtggc agatcccaca ggagtttgtc aagcttcaag
     3181 ttagccaaga agagttcctc tgtatgaaag tattgttact tcttaataca attcctttgg
     3241 aagggctacg aagtcaaacc cagtttgagg agatgaggtc aagctacatt agagagctca
     3301 tcaaggcaat tggtttgagg caaaaaggag ttgtgtcgag ctcacagcgt ttctatcaac
     3361 ttacaaaact tcttgataac ttgcatgatc ttgtcaaaca acttcatctg tactgcttga
     3421 atacatttat ccagtcccgg gcactgagtg ttgaatttcc agaaatgatg tctgaagtta
     3481 ttgctgcaca attacccaag atattggcag ggatggtgaa accccttctc tttcataaaa
     3541 agtgaatgtc atctttttct tttaaagaat taaattttgt ggtatgtctt tttgttttgg
     3601 tcaggattat gaggtcttga gtttttataa tgttcttctg aaagccttac atttataaca
     3661 tcatagtgtg taaatttaaa agaaaaattg tgaggttcta attattttct tttataaagt
     3721 ataattagaa tgtttaactg ttttgtttac ccatattttc ttgaagaatt tacaagattg
     3781 aaaaagtact aaaattgtta aagtaaacta tcttatccat attatttcat accatgtagg
     3841 tgaggatttt taacttttgc atctaacaaa tcatcgactt aagagaaaaa atcttacatg
     3901 taataacaca aagctattat atgttatttc taggtaactc cctttgtgtc aattatattt
     3961 ccaaaaatga acctttaaaa tggtatgcaa aattttgtct atatatattt gtgtgaggag
     4021 gaaattcata actttcctca gattttcaaa agtattttta atgcaaaaaa tgtagaaaga
     4081 gtttaaaacc actaaaatag attgatgttc ttcaaactag gcaaaacaac tcatatgtta
     4141 agaccatttt ccagattgga aacacaaatc tcttaggaag ttaataagta gattcatatc
     4201 attatgcaaa tagtattgtg ggttttgtag gtttttaaaa taaccttttt tggggagaga
     4261 attgtcctct aatgaggtat tgcgagtgga cataagaaat cagaagatta tggcctaact
     4321 gtactcctta ccaactgtgg catgctgaaa gttagtcact cttactgatt ctcaattctc
     4381 tcacctttga aagtagtaaa atatctttcc tgccaattgc tcctttgggt cagagcttat
     4441 taacatcttt tcaaatcaaa ggaaagaaga aagggagagg aggaggaggg aggtatcaat
     4501 tcacatacct ttctcctctt tatcctccac tatcatgaat tcatattatg tttcagccat
     4561 gcaaatcttt ttaccatgaa atttcttcca gaattttccc cctttgacac aaattccatg
     4621 catgtttcaa ccttcgagac tcagccaaat gtcatttctg taaaatcttc cctgagtctt
     4681 ccaagcagta atttgccttc tcctagagtt tacctgccat tttgtgcaca tttgagttac
     4741 agtagcatgt tattttacaa ttgtgactct cctgggagtc tgggagccat ataaagtggt
     4801 caatagtgtt tgctgactga gagttgaatg acattttctc tctgtcttgg tattactgta
     4861 gatttcgatc attctttggt tacatttctg catatttctg tacccatgac tttatcactt
     4921 tcttctccca tgctttatct ccatcaatta tcttcattac ttttaaattt tccacctttg
     4981 cttcctactt tgtgagatct ctccctttac tgactataac atagaagaat agaagtgtat
     5041 tttatgtgtc ttaaggacaa tactttagat tccttgttct aagtttttaa actgaatgaa
     5101 tggaatatta tttctctccc taagcaaaat tccacaaaac aattatttct tatgtttatg
     5161 tagccttaaa ttgttttgta ctgtaaacct cagcataaaa actttcttca tttctaattt
     5221 cattcaacaa atattgattg aatacctggt attagcacaa gaaaaatgtg ctaataagcc
     5281 ttatgagaat ttggagctga agaaagacat ataactcagg aaagttacag tccagtagta
     5341 ggtataaatt acagtgcctg ataaataggc attttaatat ttgtacactc aacgtatact
     5401 aggtaggtgc aaaacattta catataattt tactgatacc catgcagcac aaaggtacta
     5461 actttaaata ttaaataaca cctttatgtg tcagtaattc atttgcatta aatcttattg
     5521 aaaaggcttt caatatattt tccccacaaa tgtcatccca agaaaaaagt atttttaaca
     5581 tctcccaaat ataatagtta caggaaatct acctctgtga gagtgacacc tctcagaatg
     5641 aactgtgtga cacaagaaaa tgaatgtagg tctatccaaa aaaaacccca agaaacaaaa
     5701 acaatattat tagcccttta tgcttaagtg atggactcag ggaacagttg atgttgtgat
     5761 cattttatta tctgattctt gttactttga attaaaccaa tattttgatg atataaatca
     5821 tttccaccag catatattta atttccataa taactttaaa attttctaat ttcactcaac
     5881 tatgagggaa tagaatgtgg tggccacagg tttggctttt gttaaaatgt ttgatatctt
     5941 cgatgttgat ctctgtctgc aatgtagatg tctaaacact aggatttaat atttaaggct
     6001 aagctttaaa aataaagtac ctttttaaaa agaatatggc ttcaccaaat ggaaaatacc
     6061 taatttctaa atctttttct ctacaaagtc ctatctacta atgtctccat tactatttag
     6121 tcatcataac cattatcttc attttacatg tcgtgttctt tctggtagct ctaaaatgac
     6181 actaaatcat aagaagacag gttacatatc aggaaatact tgaaggttac tgaaatagat
     6241 tcttgagtta atgaaaatat tttctgtaaa aaggtttgaa aagccatttg agtctaaagc
     6301 attatacctc cattatcagt agttatgtga caattgtgtg tgtgtttaat gtttaaagat
     6361 gtggcacttt ttaataaggc aatgctatgc tattttttcc catttaacat taagataatt
     6421 tattgctata cagatgatat ggaaatatga tgaacaatat tttttttgcc aaaactatgc
     6481 cttgtaagta gccatggaat gtcaacctgt aacttaaatt atccacagat agtcatgtgt
     6541 ttgatgatgg gcactgtgga gataactgac ataggactgt gccccccttc tctgccactt
     6601 actagctgga tgagattaag caagtcattt aactgctctg attaaacctg cctttcccaa
     6661 gtgctttgta atgaatagaa atggaaacca aaaaaaacgt atacaggcct tcagaaatag
     6721 taattgctac tattttgttt tcattaagcc atagttctgg ctataatttt atcaaactca
     6781 ccagctatat tctacagtga aagcaggatt ctagaaagtc tcactgtttt atttatgtca
     6841 ccatgtgcta tgatatattt ggttgaattc atttgaaatt agggctggaa gtattcaagt
     6901 aatttcttct gctgaaaaaa tacagtgttt tgagtttagg gcctgtttta tcaaagttct
     6961 aaagagccta tcactcttcc attgtagaca ttttaaaata atgacactga ttttaacatt
     7021 tttaagtgtc tttttagaac agagagcctg actagaacac agcccctcca aaaacccatg
     7081 ctcaaattat ttttactatg gcagcaattc cacaaaaggg aacaatgggt ttagaaatta
     7141 caatgaagtc atcaacccaa aaaacatccc tatccctaag aaggttatga tataaaatgc
     7201 ccacaagaaa tctatgtctg ctttaatctg tcttttattg ctttggaagg atggctatta
     7261 catttttagt ttttgctgtg aatacctgag cagtttctct catccatact tatccttcac
     7321 acatcagaag tcaggataga atatgaatca ttttaaaaac ttttacaact ccagagccat
     7381 gtgcataaga agcattcaaa acttgccaaa acatacattt tttttcaaat ttaaagatac
     7441 tctatttttg tattcaatag ctcaacaact gtggtcccca ctgataaagt gaagtggaca
     7501 aggagacaag taatggcata agtttgtttt tcccaaagta tgcctgttca atagccattg
     7561 gatgtgggaa atttctacat ctcttaaaat tttacagaaa atacatagcc agatagtcta
     7621 gcaaaagttc accaagtcct aaattgctta tccttacttc actaagtcat gaaatcattt
     7681 taatgaaaag aacatcacct aggttttgtg gtttcttttt ttcttattca tggctgagtg
     7741 aaaacaacaa tctctgtttc tccctagcat ctgtggacta tttaatgtac cattattcca
     7801 cactctatgg tccttactaa atacaaaatt gaacaaaaag cagtaaaaca actgactctt
     7861 cacccatatt ataaaatata atccaagcca gattagtcaa catccataag atgaatccaa
     7921 gctgaactgg gcctagatta ttgagttcag gttggatcac atccctattt attaataaac
     7981 ttaggaaaga aggccttaca gaccatcagt tagctggagc taatagaacc tacacttcta
     8041 aagttcggcc tagaatcaat gtggccttaa aagctgaaaa gaagcaggaa agaacagttt
     8101 tcttcaataa tttgtccacc ctgtcactgg agaaaattta agaatttggg ggtgttggta
     8161 gtaagttaaa cacagcagct gttcatggca gaaattattc aatacatacc ttctctgaat
     8221 atcctataac caaagcaaag aaaaacacca aggggtttgt tctcctcctt ggagttgacc
     8281 tcattccaag gcagagctca ggtcacaggc acaggggctg cgcccaagct tgtccgcagc
     8341 cttatgcagc tgtggagtct ggaagactgt tgcaggactg ctggcctagt cccagaatgt
     8401 cagcctcatt ttcgatttac tggctcttgt tgctgtatgt catgctgacc ttattgttaa
     8461 acacaggttt gtttgctttt tttccactca tggagacatg ggagaggcat tatttttaag
     8521 ctggttgaaa gctttaaccg ataaagcatt tttagagaaa tgtgaatcag gcagctaaga
     8581 aagcatactc tgtccattac ggtaaagaaa atgcacagat tattaactct gcagtgtggc
     8641 attagtgtcc tggtcaatat tcggatagat atgaataaaa tatttaaatg gtattgtaaa
     8701 tagttttcag gacatatgct atagcttatt tttattatct tttgaaattg ctcttaatac
     8761 atcaaatcct gatgtattca atttatcaga tataaattat tctaaatgaa gcccagttaa
     8821 atgtttttgt cttgtcagtt atatgttaag tttctgatct ctttgtctat gacgtttact
     8881 aatctgcatt tttactgtta tgaattattt tagacagcag tggtttcaag ctttttgcca
     8941 ctaaaaatac cttttatttt ctcctccccc agaaaagtct ataccttgaa gtatctatcc
     9001 accaaactgt acttctatta agaaatagtt attgtgtttt cttaatgttt tgttattcaa
     9061 agacatatca atgaaagctg ctgagcagca tgaataacaa ttatatccac acagatttga
     9121 tatattttgt gcagccttaa cttgatagta taaaatgtca ttgcttttta aataatagtt
     9181 agtcaatgga cttctatcat agctttccta aactaggtta agatccagag ctttggggtc
     9241 ataatatatt acatacaatt aagttatctt tttctaaggg ctttaaaatt catgagaata
     9301 accaaaaaag gtatgtggag agttaataca aacataccat attcttgttg aaacagagat
     9361 gtggctctgc ttgttctcca taaggtagaa atactttcca gaatttgcct aaactagtaa
     9421 gccctgaatt tgctatgatt agggatagga agagattttc acatggcaga ctttagaatt
     9481 cttcacttta gccagtaaag tatctccttt tgatcttagt attctgtgta ttttaacttt
     9541 tctgagttgt gcatgtttat aagaaaaatc agcacaaagg gtttaagtta aagccttttt
     9601 actgaaattt gaaagaaaca gaagaaaata tcaaagttct ttgtattttg agaggattaa
     9661 atatgattta caaaagttac atggagggct ctctaaaaca ttaaattaat tattttttgt
     9721 tgaaaagtct tactttaggc atcattttat tcctcagcaa ctagctgtga agcctttact
     9781 gtgctgtatg ccagtcactc tgctagattg tggagattac cagtgttccc gtcttctccg
     9841 agcttagagt tggatgggga ataaagacag gtaaacagat agctacaata ttgtactgtg
     9901 aatgcttatg ctggaggaag tacagggaac tattggagca cctaagagga gcacctacct
     9961 tgaatttagg ggttagcaga ggcatcctga aaaaagtcaa agctaagcca caatctataa
    10021 gcagtttagg aattagcaga acgtgcgtgg tgaggagatg ccaaaggcaa gaagagaaga
    10081 gtattccaaa caggagggat tccaaagaga gaagagtatc ccaaacaaca tttgcacaaa
    10141 cctgatgggg agagagaatg tggggtgggg atggatgatg agactgaaga agaaagccag
    10201 gtctagataa tcagtggcct tgtacaccat gttaaagagt gtagacttga ttctgttgta
    10261 aacaggaaag cagcacaatt catatgaata ttttagaaga ctcccactgg aatatggaga
    10321 ataaagttgg agatgactaa tcctggaagc agggagaaca tttttgagga agttgcacta
    10381 ttttggtgaa aatgatgatc ataaacatga agaattgtag gtgatcatga cctcctctct
    10441 aattttccag aagggttttg gaagatataa cataggaaca ttgacaggac tgacgaaagg
    10501 agatgaaata caccatataa attgtcaaac acaaggccag atgtctaatt attttgctta
    10561 tgtgttgaaa ttacaaattt ttcatcagga aaccaaaaac tacaaaactt agttttccca
    10621 agtcccagaa ttctatctgt ccaaacaatc tgtaccactc cacctatatc cctacctttg
    10681 catgtctgtc caacctcaaa gtccaggtct atacacacgg gtaagactag agcagttcaa
    10741 gtttcagaaa atgagaaaga ggaactgagt tgtgctgaac ccatacaaaa taaacacatt
    10801 ctttgtatag attcttggaa cctcgagagg aattcaccta actcataggt atttgatggt
    10861 atgaatccat ggctgggctc ggcttttaaa aagccttatc tgggattcct tctatggaac
    10921 caagttccat caaagcccat ttaaaagcct acattaaaaa caaaattctt gctgcattgt
    10981 atacaaataa tgatgtcatg atcaaataat cagatgccat tatcaagtgg aattacaaaa
    11041 tggtataccc actccaaaaa aaaaaaaaaa gctaaattct cagtagaaca ttgtgacttc
    11101 atgagccctc cacagccttg gagctgagga gggagcactg gtgagcagta ggttgaagag
    11161 aaaacttggc gcttaataat ctatccatgt tttttcatct aaaagagcct tctttttgga
    11221 ttaccttatt caatttccat caaggaaatt gttagttcca ctaaccagac agcagctggg
    11281 aaggcagaag cttactgtat gtacatggta gctgtgggaa ggaggtttct ttctccaggt
    11341 cctcactggc catacaccag tcccttgtta gttatgcctg gtcatagacc cccgttgcta
    11401 tcatctcata tttaagtctt tggcttgtga atttatctat tctttcagct tcagcactgc
    11461 agagtgctgg gactttgcta acttccattt cttgctggct tagcacattc ctcataggcc
    11521 cagctctttt ctcatctggc cctgctgtgg agtcaccttg ccccttcagg agagccatgg
    11581 cttaccactg cctgctaagc ctccactcag ctgccaccac actaaatcca agcttctcta
    11641 agatgttgca gactttacag gcaagcataa aaggcttgat cttcctggac ttccctttac
    11701 ttgtctgaat ctcacctcct tcaactttca gtctcagaat gtaggcattt gtcctctttg
    11761 ccctacatct tccttcttct gaatcatgaa agcctctcac ttcctcttgc tatgtgctgg
    11821 aggcttctgt caggttttag aatgagttct catctagtcc tagtagcttt tgatgcttaa
    11881 gtccaccttt taaggatacc tttgagattt agaccatgtt tttcgcttga gaaagcccta
    11941 atctccagac ttgcctttct gtggatttca aagaccaact gaggaagtca aaagctgaat
    12001 gttgactttc tttgaacatt tccgctataa caattccaat tctcctcaga gcaatatgcc
    12061 tgcctccaac tgaccaggag aaaggtccag tgccaaagag aaaaacacaa agattaatta
    12121 tttcagttga gcacatactt tcaaagtggt ttgggtattc atatgaggtt ttctgtcaag
    12181 agggtgagac tcttcatcta tccatgtgtg cctgacagtt ctcctggcac tggctggtaa
    12241 cagatgcaaa actgtaaaaa ttaagtgatc atgtatttta acgatatcat cacatactta
    12301 ttttctatgt aatgttttaa atttccccta acatactttg actgttttgc acatggtaga
    12361 tattcacatt tttttgtgtt gaagttgatg caatcttcaa agttatctac cccgttgctt
    12421 attagtaaaa ctagtgttaa tacttggcaa gagatgcagg gaatctttct catgactcac
    12481 gccctattta gttattaatg ctactaccct attttgagta agtagtaggt ccctaagtac
    12541 attgtccaga gttatacttt taaagatatt tagccccata tacttcttga atctaaagtc
    12601 atacaccttg ctcctcattt ctgagtggga aagacatttg agagtatgtt gacaattgtt
    12661 ctgaaggttt ttgccaagaa ggtgaaactg tcctttcatc tgtgtatgcc tggggctggg
    12721 tccctggcag tgatggggtg acaatgcaaa gctgtaaaaa ctaggtgcta gtgggcacct
    12781 aatatcatca tcatatactt attttcaagc taatatgcaa aatcccatct ctgtttttaa
    12841 actaagtgta gatttcagag aaaatatttt gtggttcaca taagaaaaca gtctactcag
    12901 cttgacaagt gttttatgtt aaattggctg gtggtttgaa atgaatcatc ttcacataat
    12961 gttttcttta aaaatattgt gaatttaact ctaattcttg ttattctgtg tgataataaa
    13021 gaataaacta atttcta
//
LOCUS       NM_000928                551 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens phospholipase A2 group IB (PLA2G1B), mRNA.
ACCESSION   NM_000928
VERSION     NM_000928.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 551)
  AUTHORS   Pothlichet J, Meola A, Bugault F, Jeammet L, Savitt AG, Ghebrehiwet
            B, Touqui L, Pouletty P, Fiore F, Sauvanet A and Theze J.
  TITLE     Microbial Protein Binding to gC1qR Drives PLA2G1B-Induced CD4 T-Cell
            Anergy
  JOURNAL   Front Immunol 13, 824746 (2022)
   PUBMED   35392090
  REMARK    GeneRIF: Microbial Protein Binding to gC1qR Drives PLA2G1B-Induced
            CD4 T-Cell Anergy. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 551)
  AUTHORS   Ewers M, Epple D, Bugert P, Rosendahl J and Witt H.
  TITLE     Genetic analysis of pancreatic phospholipase A2 (PLA2G1B) in
            patients with chronic pancreatitis
  JOURNAL   Pancreatology 22 (2), 244-247 (2022)
   PUBMED   35031208
  REMARK    GeneRIF: Genetic analysis of pancreatic phospholipase A2 (PLA2G1B)
            in patients with chronic pancreatitis.
REFERENCE   3  (bases 1 to 551)
  AUTHORS   Yang L, Wu Y, Lin S, Dai B, Chen H, Tao X, Li G, Wan J and Pan Y.
  TITLE     sPLA2-IB and PLA2R mediate insufficient autophagy and contribute to
            podocyte injury in idiopathic membranous nephropathy by activation
            of the p38MAPK/mTOR/ULK1ser757 signaling pathway
  JOURNAL   FASEB J 35 (2), e21170 (2021)
   PUBMED   33184968
  REMARK    GeneRIF: sPLA2-IB and PLA2R mediate insufficient autophagy and
            contribute to podocyte injury in idiopathic membranous nephropathy
            by activation of the p38MAPK/mTOR/ULK1(ser757) signaling pathway.
REFERENCE   4  (bases 1 to 551)
  AUTHORS   Yang LY, Wu YS, Dai BB, Lin SH, Chen H, Li GP, Tao X, Wan JX and Pan
            YB.
  TITLE     sPLA2-IB Level Correlates with Hyperlipidemia and the Prognosis of
            Idiopathic Membranous Nephropathy
  JOURNAL   Curr Med Sci 40 (4), 683-690 (2020)
   PUBMED   32862379
  REMARK    GeneRIF: sPLA2-IB Level Correlates with Hyperlipidemia and the
            Prognosis of Idiopathic Membranous Nephropathy.
REFERENCE   5  (bases 1 to 551)
  AUTHORS   Pothlichet J, Rose T, Bugault F, Jeammet L, Meola A, Haouz A, Saul
            F, Geny D, Alcami J, Ruiz-Mateos E, Teyton L, Lambeau G and Theze J.
  TITLE     PLA2G1B is involved in CD4 anergy and CD4 lymphopenia in
            HIV-infected patients
  JOURNAL   J Clin Invest 130 (6), 2872-2887 (2020)
   PUBMED   32436864
  REMARK    GeneRIF: PLA2G1B is involved in CD4 anergy and CD4 lymphopenia in
            HIV-infected patients.
REFERENCE   6  (bases 1 to 551)
  AUTHORS   Kanda A, Tamaki M, Nakamura E, Teraoka H and Yoshida N.
  TITLE     Characterization of recombinant human and rat pancreatic
            phospholipases A2 secreted from Saccharomyces cerevisiae: difference
            in proteolytic processing
  JOURNAL   Biochim Biophys Acta 1171 (1), 1-10 (1992)
   PUBMED   1420353
REFERENCE   7  (bases 1 to 551)
  AUTHORS   Arita H, Hanasaki K, Nakano T, Oka S, Teraoka H and Matsumoto K.
  TITLE     Novel proliferative effect of phospholipase A2 in Swiss 3T3 cells
            via specific binding site
  JOURNAL   J Biol Chem 266 (29), 19139-19141 (1991)
   PUBMED   1918029
REFERENCE   8  (bases 1 to 551)
  AUTHORS   Clark MA, Ozgur LE, Conway TM, Dispoto J, Crooke ST and Bomalaski
            JS.
  TITLE     Cloning of a phospholipase A2-activating protein
  JOURNAL   Proc Natl Acad Sci U S A 88 (12), 5418-5422 (1991)
   PUBMED   2052621
REFERENCE   9  (bases 1 to 551)
  AUTHORS   Seilhamer,J.J., Randall,T.L., Yamanaka,M. and Johnson,L.K.
  TITLE     Pancreatic phospholipase A2: isolation of the human gene and cDNAs
            from porcine pancreas and human lung
  JOURNAL   DNA 5 (6), 519-527 (1986)
   PUBMED   3028739
REFERENCE   10  (bases 1 to 551)
  AUTHORS   Verheij,H.M., Westerman,J., Sternby,B. and De Haas,G.H.
  TITLE     The complete primary structure of phospholipase A2 from human
            pancreas
  JOURNAL   Biochim Biophys Acta 747 (1-2), 93-99 (1983)
   PUBMED   6349696
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BP322008.1, BP322424.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145245,
            SAMEA2147920 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000308366.9/ ENSP00000312286.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            M21054.1 and AA844927.1.
            On Nov 22, 2018 this sequence version replaced NM_000928.2.
            Summary: This gene encodes a secreted member of the phospholipase
            A2 (PLA2) class of enzymes, which is produced by the pancreatic
            acinar cells. The encoded calcium-dependent enzyme catalyzes the
            hydrolysis of the sn-2 position of membrane glycerophospholipids to
            release arachidonic acid (AA) and lysophospholipids. AA is
            subsequently converted by downstream metabolic enzymes to several
            bioactive lipophilic compounds (eicosanoids), including
            prostaglandins (PGs) and leukotrienes (LTs). The enzyme may be
            involved in several physiological processes including cell
            contraction, cell proliferation and pathological response.
            [provided by RefSeq, Aug 2013].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..551
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..551
                     /gene="PLA2G1B"
                     /gene_synonym="PLA2; PLA2A; PPLA2"
                     /note="phospholipase A2 group IB"
                     /db_xref="GeneID:5319"
                     /db_xref="HGNC:HGNC:9030"
                     /db_xref="MIM:172410"
     CDS             27..473
                     /gene="PLA2G1B"
                     /gene_synonym="PLA2; PLA2A; PPLA2"
                     /EC_number="3.1.1.4"
                     /note="phosphatidylcholine 2-acylhydrolase 1B;
                     phospholipase A2, group IB (pancreas)"
                     /codon_start=1
                     /product="phospholipase A2 precursor"
                     /protein_id="NP_000919.1"
                     /db_xref="CCDS:CCDS9195.1"
                     /db_xref="GeneID:5319"
                     /db_xref="HGNC:HGNC:9030"
                     /db_xref="MIM:172410"
                     /translation="MKLLVLAVLLTVAAADSGISPRAVWQFRKMIKCVIPGSDPFLEYN
                     NYGCYCGLGGSGTPVDELDKCCQTHDNCYDQAKKLDSCKFLLDNPYTHTYSYSCSGSAI
                     TCSSKNKECEAFICNCDRNAAICFSKAPYNKAHKNLDTKKYCQS"
     sig_peptide     27..71
                     /gene="PLA2G1B"
                     /gene_synonym="PLA2; PLA2A; PPLA2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      529..534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLA2G1B"
                     /gene_synonym="PLA2; PLA2A; PPLA2"
                     /note="hexamer: AATAAA"
     polyA_site      551
                     /gene="PLA2G1B"
                     /gene_synonym="PLA2; PLA2A; PPLA2"
                     /note="major polyA site"
ORIGIN
        1 agttcttttc tcaccttgac tgcaagatga aactccttgt gctagctgtg ctgctcacag
       61 tggccgccgc cgacagcggc atcagccctc gggccgtgtg gcagttccgc aaaatgatca
      121 agtgcgtgat cccggggagt gaccccttct tggaatacaa caactacggc tgctactgtg
      181 gcttgggggg ctcaggcacc cccgtggatg aactggacaa gtgctgccag acacatgaca
      241 actgctatga ccaggccaag aagctggaca gctgtaaatt tctgctggac aacccgtaca
      301 cccacaccta ttcatactcg tgctctggct cggcaatcac ctgtagcagc aaaaacaaag
      361 agtgtgaggc cttcatttgc aactgcgacc gcaacgctgc catctgcttt tcaaaagctc
      421 catataacaa ggcacacaag aacctggaca ccaagaagta ttgtcagagt tgaatatcac
      481 ctctcaaaag catcacctct atctgcctca tctcacactg tactctccaa taaagcacct
      541 tgttgaaaga c
//
LOCUS       NM_000929               1918 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens phospholipase A2 group V (PLA2G5), mRNA.
ACCESSION   NM_000929
VERSION     NM_000929.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1918)
  AUTHORS   Koganesawa M, Yamaguchi M, Samuchiwal SK and Balestrieri B.
  TITLE     Lipid Profile of Activated Macrophages and Contribution of Group V
            Phospholipase A2
  JOURNAL   Biomolecules 11 (1), 25 (2020)
   PUBMED   33383652
  REMARK    GeneRIF: Lipid Profile of Activated Macrophages and Contribution of
            Group V Phospholipase A2. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1918)
  AUTHORS   Meliton LN, Zhu X, Brown M, Epshtein Y, Kawasaki T, Letsiou E and
            Dudek SM.
  TITLE     Degradation of group V secretory phospholipase A2 in lung
            endothelium is mediated by autophagy
  JOURNAL   Microvasc Res 129, 103954 (2020)
   PUBMED   31730773
  REMARK    GeneRIF: Lysosome-mediated autophagy pathway contributes to gVPLA2
            clearance from lung endothelial cells.
REFERENCE   3  (bases 1 to 1918)
  AUTHORS   Kuksis A and Pruzanski W.
  TITLE     Hydrolysis of Phosphatidylcholine-Isoprostanes (PtdCho-IP) by
            Peripheral Human Group IIA, V and X Secretory Phospholipases A2
            (sPLA2)
  JOURNAL   Lipids 52 (6), 477-488 (2017)
   PUBMED   28528433
  REMARK    GeneRIF: This report provides the first demonstration that
            Phosphatidylcholine-Isoprostanes are readily hydrolyzed by group
            IIA, V and X Secretory Phospholipases A2.
REFERENCE   4  (bases 1 to 1918)
  AUTHORS   Menschikowski M, Hagelgans A, Nacke B, Jandeck C, Mareninova OA,
            Asatryan L and Siegert G.
  TITLE     Epigenetic control of group V phospholipase A2 expression in human
            malignant cells
  JOURNAL   Tumour Biol 37 (6), 8097-8105 (2016)
   PUBMED   26715269
  REMARK    GeneRIF: Low GV-PLA2 expression is associated with cancer.
REFERENCE   5  (bases 1 to 1918)
  AUTHORS   Pruzanski W, Kopilov J and Kuksis A.
  TITLE     Hydrolysis of lipoproteins by sPLA2's enhances mitogenesis and
            eicosanoid release from vascular smooth muscle cells: Diverse
            activity of sPLA2's IIA, V and X
  JOURNAL   Prostaglandins Other Lipid Mediat 122, 64-68 (2016)
   PUBMED   26711221
  REMARK    GeneRIF: Data show that phospholipase A2 group IIA, V and X have
            different target/function related activity.
REFERENCE   6  (bases 1 to 1918)
  AUTHORS   Johansen B, Rakkestad K, Balboa MA and Dennis EA.
  TITLE     Expression of cytosolic and secreted forms of phospholipase A(2) and
            cyclooxygenases in human placenta, fetal membranes, and chorionic
            cell lines
  JOURNAL   Prostaglandins Other Lipid Mediat 60 (4-6), 119-125 (2000)
   PUBMED   10751642
REFERENCE   7  (bases 1 to 1918)
  AUTHORS   Bingham CO 3rd, Fijneman RJ, Friend DS, Goddeau RP, Rogers RA,
            Austen KF and Arm JP.
  TITLE     Low molecular weight group IIA and group V phospholipase A(2)
            enzymes have different intracellular locations in mouse bone
            marrow-derived mast cells
  JOURNAL   J Biol Chem 274 (44), 31476-31484 (1999)
   PUBMED   10531350
REFERENCE   8  (bases 1 to 1918)
  AUTHORS   Chen Y and Dennis EA.
  TITLE     Expression and characterization of human group V phospholipase A2
  JOURNAL   Biochim Biophys Acta 1394 (1), 57-64 (1998)
   PUBMED   9767110
  REMARK    Erratum:[Biochim Biophys Acta 1999 Jan 4;1436(3):629]
REFERENCE   9  (bases 1 to 1918)
  AUTHORS   Tischfield JA, Xia YR, Shih DM, Klisak I, Chen J, Engle SJ, Siakotos
            AN, Winstead MV, Seilhamer JJ, Allamand V, Gyapay G and Lusis AJ.
  TITLE     Low-molecular-weight, calcium-dependent phospholipase A2 genes are
            linked and map to homologous chromosome regions in mouse and human
  JOURNAL   Genomics 32 (3), 328-333 (1996)
   PUBMED   8838795
REFERENCE   10  (bases 1 to 1918)
  AUTHORS   Chen J, Engle SJ, Seilhamer JJ and Tischfield JA.
  TITLE     Cloning and recombinant expression of a novel human low molecular
            weight Ca(2+)-dependent phospholipase A2
  JOURNAL   J Biol Chem 269 (4), 2365-2368 (1994)
   PUBMED   8300559
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC036792.1, U03090.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375108.4/ ENSP00000364249.3
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL158172.5, AV709457.1,
            BM705479.1, BC036792.1 and BM684907.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000929.2.
            Summary: This gene is a member of the secretory phospholipase A2
            family. It is located in a tightly-linked cluster of secretory
            phospholipase A2 genes on chromosome 1. The encoded enzyme
            catalyzes the hydrolysis of membrane phospholipids to generate
            lysophospholipids and free fatty acids including arachidonic acid.
            It preferentially hydrolyzes linoleoyl-containing
            phosphatidylcholine substrates. Secretion of this enzyme is thought
            to induce inflammatory responses in neighboring cells.
            Alternatively spliced transcript variants have been found, but
            their full-length nature has not been determined. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1918
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     gene            1..1918
                     /gene="PLA2G5"
                     /gene_synonym="FRFB; GV-PLA2; hVPLA(2); PLA2-10"
                     /note="phospholipase A2 group V"
                     /db_xref="GeneID:5322"
                     /db_xref="HGNC:HGNC:9038"
                     /db_xref="MIM:601192"
     misc_feature    127..129
                     /gene="PLA2G5"
                     /gene_synonym="FRFB; GV-PLA2; hVPLA(2); PLA2-10"
                     /note="upstream in-frame stop codon"
     CDS             283..699
                     /gene="PLA2G5"
                     /gene_synonym="FRFB; GV-PLA2; hVPLA(2); PLA2-10"
                     /EC_number="3.1.1.4"
                     /note="Ca2+-dependent phospholipase A2; calcium-dependent
                     phospholipase A2; phosphatidylcholine 2-acylhydrolase 5"
                     /codon_start=1
                     /product="phospholipase A2 group V precursor"
                     /protein_id="NP_000920.1"
                     /db_xref="CCDS:CCDS202.1"
                     /db_xref="GeneID:5322"
                     /db_xref="HGNC:HGNC:9038"
                     /db_xref="MIM:601192"
                     /translation="MKGLLPLAWFLACSVPAVQGGLLDLKSMIEKVTGKNALTNYGFYG
                     CYCGWGGRGTPKDGTDWCCWAHDHCYGRLEEKGCNIRTQSYKYRFAWGVVTCEPGPFCH
                     VNLCACDRKLVYCLKRNLRSYNPQYQYFPNILCS"
     sig_peptide     283..342
                     /gene="PLA2G5"
                     /gene_synonym="FRFB; GV-PLA2; hVPLA(2); PLA2-10"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     343..696
                     /gene="PLA2G5"
                     /gene_synonym="FRFB; GV-PLA2; hVPLA(2); PLA2-10"
                     /product="phospholipase A2 group V"
     regulatory      1146..1151
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLA2G5"
                     /gene_synonym="FRFB; GV-PLA2; hVPLA(2); PLA2-10"
                     /note="hexamer: AATAAA"
     regulatory      1168..1173
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLA2G5"
                     /gene_synonym="FRFB; GV-PLA2; hVPLA(2); PLA2-10"
                     /note="hexamer: AATAAA"
     polyA_site      1175
                     /gene="PLA2G5"
                     /gene_synonym="FRFB; GV-PLA2; hVPLA(2); PLA2-10"
                     /note="major polyA site"
     polyA_site      1197
                     /gene="PLA2G5"
                     /gene_synonym="FRFB; GV-PLA2; hVPLA(2); PLA2-10"
     regulatory      1887..1892
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLA2G5"
                     /gene_synonym="FRFB; GV-PLA2; hVPLA(2); PLA2-10"
                     /note="hexamer: AATAAA"
     polyA_site      1911
                     /gene="PLA2G5"
                     /gene_synonym="FRFB; GV-PLA2; hVPLA(2); PLA2-10"
ORIGIN
        1 agtcgggggc tgagcagggt tctacccggc tgggtccagg cagaagtttt tcctccccac
       61 ctccgggttt gtcctcatca tcggtcactc ccattcacag ctttaagatt ctggaggcca
      121 agaatttgac tccccccgga tccatggtct gtggatacca atgttccgac tggagacggg
      181 gagcccgcga gacccgggtc tccagggtct gcccaaggaa gttgctcatg ggagcagacc
      241 tctagagcag gatttgaggc caggccaaag agaaccccag agatgaaagg cctcctccca
      301 ctggcttggt tcctggcttg tagtgtgcct gctgtgcaag gaggcttgct ggacctaaaa
      361 tcaatgatcg agaaggtgac agggaagaac gccctgacaa actacggctt ctacggctgt
      421 tactgcggct ggggcggccg aggaaccccc aaggatggca ccgattggtg ctgttgggcg
      481 catgaccact gctatgggcg gctggaggag aagggctgca acattcgcac acagtcctac
      541 aaatacagat tcgcgtgggg cgtggtcacc tgcgagcccg ggcccttctg ccatgtgaac
      601 ctctgtgcct gtgaccggaa gctcgtctac tgcctcaaga gaaacctacg gagctacaac
      661 ccacagtacc aatactttcc caacatcctc tgctcctagg cctccccagc gagctcctcc
      721 cagaccaaga cttttgttct gtttttctac aacacagagt actgactctg cctggttcct
      781 gagagaggct cctaagtcac agacctcagt ctttctcgaa gcttggcgga cccccagggc
      841 cacactgtac cctccagcga gtcccaggag agtgactctg gtcataggac ttggtagggt
      901 cccagggtcc ctaggcctcc acttctgagg gcagcccctc tggtgccaag agctctcctc
      961 caactcaggg ttggctgtgt ctcttttctt ctctgaagac agcgtcctgg ctccagttgg
     1021 aacactttcc tgagatgcac ttacttctca gcttctgcga tcagattatc atcaccacca
     1081 ccctccagag aatttttacg caagaagagc caaattgact ctctaaatct ggtgtatggg
     1141 tattaaataa aattcattct caaggctaat aaaaaccaca ttggcatttt cctctgctgt
     1201 gggggatcgc tggtgcctct ttctctgcca ctggggcaat aaacccaaag atgtctacat
     1261 tatctccgaa acagaaggga agattagtaa atgcagggtt ttctgggatg agcttcaggc
     1321 tttctcttgg gctaattttc ttacaccttg gggtcctctc cagtattggg tctcattctt
     1381 cctcgatggg gtcagggaaa gataactggt gattatgcca gcttcagctt ccaggccaga
     1441 gagggtggca ttcaaatccc agtgctggct tcttcagctg tgtggtcttg gacccgttac
     1501 tgaacctctt tgactttcag tctctttgag aaataaactg tcttgttcct tgcaatgtaa
     1561 aatgagactt ctaaagccca ccttgatgct gatatggaga atgctgaggt tctaggattt
     1621 cacacagcag gaattttttt ttaataggtg tcagctgtgg ggtttatttt ttacaaagta
     1681 aggacattaa aaaaaccaac ccgtctatca attcataaaa gaaaggatgt tctgatacca
     1741 agactgaaag aagaaaggat gtattccaaa acaaaggaac atccttccaa gaaaggacct
     1801 atggcttctt tattccgaca taccccaaaa taactgcatg ataaataggt ctatatttaa
     1861 aaagctctag tgtcgaatgt tttcaaaata aaatttaatt ttatgagatt accctgaa
//
LOCUS       NM_000930               3062 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens plasminogen activator, tissue type (PLAT), transcript
            variant 1, mRNA.
ACCESSION   NM_000930
VERSION     NM_000930.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3062)
  AUTHORS   Ruikar K, Khode V, Shetty SS, Sarathkumar E, Patil P, Patil S,
            Bargale A, Sadashiv R and Shetty P.
  TITLE     Association of pro-fibrinolytic receptor AnnexinA2 with tissue
            plasminogen activator/Inhibitor-1 in pre-eclampsia
  JOURNAL   Afr Health Sci 23 (1), 309-319 (2023)
   PUBMED   37545924
  REMARK    GeneRIF: Association of pro-fibrinolytic receptor AnnexinA2 with
            tissue plasminogen activator/Inhibitor-1 in pre-eclampsia.
REFERENCE   2  (bases 1 to 3062)
  AUTHORS   Zhang C, Salamon J and Zhang R.
  TITLE     Correlations between the Changing Levels of Tissue Plasminogen
            Activator and Adiposity Following Exercise-Induced Weight Loss
  JOURNAL   Nutrients 14 (23), 5159 (2022)
   PUBMED   36501190
  REMARK    GeneRIF: Correlations between the Changing Levels of Tissue
            Plasminogen Activator and Adiposity Following Exercise-Induced
            Weight Loss. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3062)
  AUTHORS   Jasmiad NB, Abd Ghani RB, Agarwal R, Ismail ZB, Mohd Abdullah AA and
            Idorus MY.
  TITLE     Relationship between serum and tear levels of tissue plasminogen
            activator and plasminogen activator inhibitor-1 in diabetic
            retinopathy
  JOURNAL   BMC Ophthalmol 22 (1), 357 (2022)
   PUBMED   36057550
  REMARK    GeneRIF: Relationship between serum and tear levels of tissue
            plasminogen activator and plasminogen activator inhibitor-1 in
            diabetic retinopathy. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3062)
  AUTHORS   Seillier C, Helie P, Petit G, Vivien D, Clemente D, Le Mauff B,
            Docagne F and Toutirais O.
  TITLE     Roles of the tissue-type plasminogen activator in immune response
  JOURNAL   Cell Immunol 371, 104451 (2022)
   PUBMED   34781155
  REMARK    GeneRIF: Roles of the tissue-type plasminogen activator in immune
            response. Review article
REFERENCE   5  (bases 1 to 3062)
  AUTHORS   Chevilley A, Lesept F, Lenoir S, Ali C, Parcq J and Vivien D.
  TITLE     Impacts of tissue-type plasminogen activator (tPA) on neuronal
            survival
  JOURNAL   Front Cell Neurosci 9, 415 (2015)
   PUBMED   26528141
  REMARK    Review article Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3062)
  AUTHORS   Orth K, Madison EL, Gething MJ, Sambrook JF and Herz J.
  TITLE     Complexes of tissue-type plasminogen activator and its serpin
            inhibitor plasminogen-activator inhibitor type 1 are internalized by
            means of the low density lipoprotein receptor-related protein/alpha
            2-macroglobulin receptor
  JOURNAL   Proc Natl Acad Sci U S A 89 (16), 7422-7426 (1992)
   PUBMED   1502153
REFERENCE   7  (bases 1 to 3062)
  AUTHORS   Downing AK, Driscoll PC, Harvey TS, Dudgeon TJ, Smith BO, Baron M
            and Campbell ID.
  TITLE     Solution structure of the fibrin binding finger domain of
            tissue-type plasminogen activator determined by 1H nuclear magnetic
            resonance
  JOURNAL   J Mol Biol 225 (3), 821-833 (1992)
   PUBMED   1602484
REFERENCE   8  (bases 1 to 3062)
  AUTHORS   de Vos AM, Ultsch MH, Kelley RF, Padmanabhan K, Tulinsky A,
            Westbrook ML and Kossiakoff AA.
  TITLE     Crystal structure of the kringle 2 domain of tissue plasminogen
            activator at 2.4-A resolution
  JOURNAL   Biochemistry 31 (1), 270-279 (1992)
   PUBMED   1310033
REFERENCE   9  (bases 1 to 3062)
  AUTHORS   Itagaki Y, Yasuda H, Morinaga T, Mitsuda S and Higashio K.
  TITLE     Purification and characterization of tissue plasminogen activator
            secreted by human embryonic lung diploid fibroblasts, IMR-90 cells
  JOURNAL   Agric Biol Chem 55 (5), 1225-1232 (1991)
   PUBMED   1368681
  REMARK    Erratum:[Agric Biol Chem 1991 Jun;55(6):A10]
REFERENCE   10  (bases 1 to 3062)
  AUTHORS   Edlund,T., Ny,T., Ranby,M., Heden,L.O., Palm,G., Holmgren,E. and
            Josephson,S.
  TITLE     Isolation of cDNA sequences coding for a part of human tissue
            plasminogen activator
  JOURNAL   Proc Natl Acad Sci U S A 80 (2), 349-352 (1983)
   PUBMED   6572897
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.164230.1, BC095403.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000220809.9/ ENSP00000220809.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC424502.1, BC013968.2 and
            DA031108.1.
            On May 17, 2019 this sequence version replaced NM_000930.4.
            Summary: This gene encodes tissue-type plasminogen activator, a
            secreted serine protease that converts the proenzyme plasminogen to
            plasmin, a fibrinolytic enzyme. The encoded preproprotein is
            proteolytically processed by plasmin or trypsin to generate heavy
            and light chains. These chains associate via disulfide linkages to
            form the heterodimeric enzyme. This enzyme plays a role in cell
            migration and tissue remodeling. Increased enzymatic activity
            causes hyperfibrinolysis, which manifests as excessive bleeding,
            while decreased activity leads to hypofibrinolysis, which can
            result in thrombosis or embolism. Alternative splicing of this gene
            results in multiple transcript variants, at least one of which
            encodes an isoform that is proteolytically processed. [provided by
            RefSeq, Jan 2016].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3062
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.21"
     gene            1..3062
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /note="plasminogen activator, tissue type"
                     /db_xref="GeneID:5327"
                     /db_xref="HGNC:HGNC:9051"
                     /db_xref="MIM:173370"
     misc_feature    6..8
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /note="upstream in-frame stop codon"
     CDS             99..1787
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /EC_number="3.4.21.68"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; t-plasminogen activator; alteplase; reteplase;
                     plasminogen/activator kringle"
                     /codon_start=1
                     /product="tissue-type plasminogen activator isoform 1
                     preproprotein"
                     /protein_id="NP_000921.1"
                     /db_xref="CCDS:CCDS6126.1"
                     /db_xref="GeneID:5327"
                     /db_xref="HGNC:HGNC:9051"
                     /db_xref="MIM:173370"
                     /translation="MDAMKRGLCCVLLLCGAVFVSPSQEIHARFRRGARSYQVICRDEK
                     TQMIYQQHQSWLRPVLRSNRVEYCWCNSGRAQCHSVPVKSCSEPRCFNGGTCQQALYFS
                     DFVCQCPEGFAGKCCEIDTRATCYEDQGISYRGTWSTAESGAECTNWNSSALAQKPYSG
                     RRPDAIRLGLGNHNYCRNPDRDSKPWCYVFKAGKYSSEFCSTPACSEGNSDCYFGNGSA
                     YRGTHSLTESGASCLPWNSMILIGKVYTAQNPSAQALGLGKHNYCRNPDGDAKPWCHVL
                     KNRRLTWEYCDVPSCSTCGLRQYSQPQFRIKGGLFADIASHPWQAAIFAKHRRSPGERF
                     LCGGILISSCWILSAAHCFQERFPPHHLTVILGRTYRVVPGEEEQKFEVEKYIVHKEFD
                     DDTYDNDIALLQLKSDSSRCAQESSVVRTVCLPPADLQLPDWTECELSGYGKHEALSPF
                     YSERLKEAHVRLYPSSRCTSQHLLNRTVTDNMLCAGDTRSGGPQANLHDACQGDSGGPL
                     VCLNDGRMTLVGIISWGLGCGQKDVPGVYTKVTNYLDWIRDNMRP"
     sig_peptide     99..164
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     204..1784
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /product="Tissue-type plasminogen activator.
                     /id=PRO_0000028350"
                     /note="propagated from UniProtKB/Swiss-Prot (P00750.1)"
     mat_peptide     204..1028
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /product="Tissue-type plasminogen activator chain A.
                     /id=PRO_0000028351"
                     /note="propagated from UniProtKB/Swiss-Prot (P00750.1)"
     misc_feature    222..254
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /note="propagated from UniProtKB/Swiss-Prot (P00750.1);
                     Region: Important for binding to annexin A2"
     misc_feature    384..386
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /note="O-linked (Fuc) threonine.
                     /evidence=ECO:0000269|PubMed:1900431. /id=CAR_000029;
                     propagated from UniProtKB/Swiss-Prot (P00750.1);
                     glycosylation site"
     misc_feature    402..404
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /note="Important for binding to LRP1; propagated from
                     UniProtKB/Swiss-Prot (P00750.1); other site"
     misc_feature    552..554
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:2513186; propagated from
                     UniProtKB/Swiss-Prot (P00750.1); glycosylation site"
     misc_feature    753..755
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /note="N-linked (GlcNAc...) asparagine, partial.
                     /evidence=ECO:0000269|PubMed:2513186. /id=CAR_000030;
                     propagated from UniProtKB/Swiss-Prot (P00750.1);
                     glycosylation site"
     misc_feature    855..857
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /note="Not glycosylated; propagated from
                     UniProtKB/Swiss-Prot (P00750.1); other site"
     mat_peptide     1029..1784
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /product="Tissue-type plasminogen activator chain B.
                     /id=PRO_0000028352"
                     /note="propagated from UniProtKB/Swiss-Prot (P00750.1)"
     misc_feature    1488..1490
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /note="Important for single-chain activity; propagated from
                     UniProtKB/Swiss-Prot (P00750.1); other site"
     misc_feature    1545..1547
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:2513186. /id=CAR_000031;
                     propagated from UniProtKB/Swiss-Prot (P00750.1);
                     glycosylation site"
     misc_feature    1632..1634
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /note="Important for single-chain activity; propagated from
                     UniProtKB/Swiss-Prot (P00750.1); other site"
     regulatory      2511..2516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /note="hexamer: AATAAA"
     polyA_site      2547
                     /gene="PLAT"
                     /gene_synonym="T-PA; TPA"
                     /note="major polyA site"
ORIGIN
        1 agagctgaga tcctacagga gtccagggct ggagagaaaa cctctgcgag gaaagggaag
       61 gagcaagccg tgaatttaag ggacgctgtg aagcaatcat ggatgcaatg aagagagggc
      121 tctgctgtgt gctgctgctg tgtggagcag tcttcgtttc gcccagccag gaaatccatg
      181 cccgattcag aagaggagcc agatcttacc aagtgatctg cagagatgaa aaaacgcaga
      241 tgatatacca gcaacatcag tcatggctgc gccctgtgct cagaagcaac cgggtggaat
      301 attgctggtg caacagtggc agggcacagt gccactcagt gcctgtcaaa agttgcagcg
      361 agccaaggtg tttcaacggg ggcacctgcc agcaggccct gtacttctca gatttcgtgt
      421 gccagtgccc cgaaggattt gctgggaagt gctgtgaaat agataccagg gccacgtgct
      481 acgaggacca gggcatcagc tacaggggca cgtggagcac agcggagagt ggcgccgagt
      541 gcaccaactg gaacagcagc gcgttggccc agaagcccta cagcgggcgg aggccagacg
      601 ccatcaggct gggcctgggg aaccacaact actgcagaaa cccagatcga gactcaaagc
      661 cctggtgcta cgtctttaag gcggggaagt acagctcaga gttctgcagc acccctgcct
      721 gctctgaggg aaacagtgac tgctactttg ggaatgggtc agcctaccgt ggcacgcaca
      781 gcctcaccga gtcgggtgcc tcctgcctcc cgtggaattc catgatcctg ataggcaagg
      841 tttacacagc acagaacccc agtgcccagg cactgggcct gggcaaacat aattactgcc
      901 ggaatcctga tggggatgcc aagccctggt gccacgtgct gaagaaccgc aggctgacgt
      961 gggagtactg tgatgtgccc tcctgctcca cctgcggcct gagacagtac agccagcctc
     1021 agtttcgcat caaaggaggg ctcttcgccg acatcgcctc ccacccctgg caggctgcca
     1081 tctttgccaa gcacaggagg tcgcccggag agcggttcct gtgcgggggc atactcatca
     1141 gctcctgctg gattctctct gccgcccact gcttccagga gaggtttccg ccccaccacc
     1201 tgacggtgat cttgggcaga acataccggg tggtccctgg cgaggaggag cagaaatttg
     1261 aagtcgaaaa atacattgtc cataaggaat tcgatgatga cacttacgac aatgacattg
     1321 cgctgctgca gctgaaatcg gattcgtccc gctgtgccca ggagagcagc gtggtccgca
     1381 ctgtgtgcct tcccccggcg gacctgcagc tgccggactg gacggagtgt gagctctccg
     1441 gctacggcaa gcatgaggcc ttgtctcctt tctattcgga gcggctgaag gaggctcatg
     1501 tcagactgta cccatccagc cgctgcacat cacaacattt acttaacaga acagtcaccg
     1561 acaacatgct gtgtgctgga gacactcgga gcggcgggcc ccaggcaaac ttgcacgacg
     1621 cctgccaggg cgattcggga ggccccctgg tgtgtctgaa cgatggccgc atgactttgg
     1681 tgggcatcat cagctggggc ctgggctgtg gacagaagga tgtcccgggt gtgtacacca
     1741 aggttaccaa ctacctagac tggattcgtg acaacatgcg accgtgacca ggaacacccg
     1801 actcctcaaa agcaaatgag atcccgcctc ttcttcttca gaagacactg caaaggcgca
     1861 gtgcttctct acagacttct ccagacccac cacaccgcag aagcgggacg agaccctaca
     1921 ggagagggaa gagtgcattt tcccagatac ttcccatttt ggaagttttc aggacttggt
     1981 ctgatttcag gatactctgt cagatgggaa gacatgaatg cacactagcc tctccaggaa
     2041 tgcctcctcc ctgggcagaa agtggccatg ccaccctgtt ttcagctaaa gcccaacctc
     2101 ctgacctgtc accgtgagca gctttggaaa caggaccaca aaaatgaaag catgtctcaa
     2161 tagtaaaaga taacaagatc tttcaggaaa gacggattgc attagaaata gacagtatat
     2221 ttatagtcac aagagcccag cagggcctca aagttggggc aggctggctg gcccgtcatg
     2281 ttcctcaaaa gcacccttga cgtcaagtct ccttcccctt tccccactcc ctggctctca
     2341 gaaggtattc cttttgtgta cagtgtgtaa agtgtaaatc ctttttcttt ataaacttta
     2401 gagtagcatg agagaattgt atcatttgaa caactaggct tcagcatatt tatagcaatc
     2461 catgttagtt tttactttct gttgccacaa ccctgtttta tactgtactt aataaattca
     2521 gatatatttt tcacagtttt tccaaaatca gagtggaatg gttttgttat agatgctgta
     2581 tcccactctt tattcatgtt cacattttaa aatcatttgg aattctgctt cactcgctta
     2641 acatatacac aacacctgta acatacaagg caatgggcta ggtgctccag accgggaaaa
     2701 ggagggacag gaatgcttgg tctgatgggc taatatggca tttagagaag taccaaggta
     2761 cagtggagcc ggtcacaaaa gggcagactt gtagtagaat tcagttgcaa gagggattgg
     2821 ggaatcttaa ggaaaaaata gaatcttaag gaaaaaataa ctgggtgaga cgtggactgt
     2881 ggacaggtgt ggaaaaggca ctctccatgg aggtatgaat atgtagaggg ccaagagagg
     2941 ggagtacagg gagaaatgag ttgagcttgt ctgaagtgaa cttcaggaag aggaacatag
     3001 gctggaattt agattatggg ggctctgaac accaaactga gtttggactt aattgacttc
     3061 tg
//
LOCUS       NM_000932               4192 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens phospholipase C beta 3 (PLCB3), transcript variant 1,
            mRNA.
ACCESSION   NM_000932
VERSION     NM_000932.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4192)
  AUTHORS   Grebert C, Becq F and Vandebrouck C.
  TITLE     Phospholipase C controls chloride-dependent short-circuit current in
            human bronchial epithelial cells
  JOURNAL   Am J Physiol Lung Cell Mol Physiol 320 (2), L205-L219 (2021)
   PUBMED   33236921
  REMARK    GeneRIF: Phospholipase C controls chloride-dependent short-circuit
            current in human bronchial epithelial cells.
REFERENCE   2  (bases 1 to 4192)
  AUTHORS   Esquina CM, Garland-Kuntz EE, Goldfarb D, McDonald EK, Hudson BN and
            Lyon AM.
  TITLE     Intramolecular electrostatic interactions contribute to
            phospholipase Cbeta3 autoinhibition
  JOURNAL   Cell Signal 62, 109349 (2019)
   PUBMED   31254604
  REMARK    GeneRIF: Intramolecular electrostatic interactions contribute to
            phospholipase Cbeta3 autoinhibition. Erratum:[Cell Signal. 2019 Jul
            31;:109376. PMID: 31377106]
REFERENCE   3  (bases 1 to 4192)
  AUTHORS   Pan G, Cao X, Liu B, Li C, Li D, Zheng J, Lai C, Olkkonen VM, Zhong
            W and Yan D.
  TITLE     OSBP-related protein 4L promotes phospholipase Cbeta3 translocation
            from the nucleus to the plasma membrane in Jurkat T-cells
  JOURNAL   J Biol Chem 293 (45), 17430-17441 (2018)
   PUBMED   30237164
  REMARK    GeneRIF: This study reveals detailed mechanistic insight into the
            role of ORP4L in PLCbeta3 redistribution from storage within the
            nucleus to the plasma membrane via RAN activation and interaction
            with VAPA in Jurkat T-cells.
REFERENCE   4  (bases 1 to 4192)
  AUTHORS   Zauli G, Previati M, Caramelli E, Bassini A, Falcieri E, Gibellini
            D, Bertolaso L, Bosco D, Robuffo I and Capitani S.
  TITLE     Exogenous human immunodeficiency virus type-1 Tat protein
            selectively stimulates a phosphatidylinositol-specific phospholipase
            C nuclear pathway in the Jurkat T cell line
  JOURNAL   Eur J Immunol 25 (9), 2695-2700 (1995)
   PUBMED   7589147
REFERENCE   5  (bases 1 to 4192)
  AUTHORS   Mazuruk K, Schoen TJ, Chader GJ and Rodriguez IR.
  TITLE     Structural organization and expression of the human
            phosphatidylinositol-specific phospholipase C beta-3 gene
  JOURNAL   Biochem Biophys Res Commun 212 (1), 190-195 (1995)
   PUBMED   7612006
REFERENCE   6  (bases 1 to 4192)
  AUTHORS   Lagercrantz J, Carson E, Phelan C, Grimmond S, Rosen A, Dare E,
            Nordenskjold M, Hayward NK, Larsson C and Weber G.
  TITLE     Genomic organization and complete cDNA sequence of the human
            phosphoinositide-specific phospholipase C beta 3 gene (PLCB3)
  JOURNAL   Genomics 26 (3), 467-472 (1995)
   PUBMED   7607669
REFERENCE   7  (bases 1 to 4192)
  AUTHORS   Sinke RJ and Geurts van Kessel AG.
  TITLE     Localization of the human phosphatidylinositol-specific
            phospholipase c beta 3 gene (PLCB3) within chromosome band 11q13
  JOURNAL   Genomics 25 (2), 568-569 (1995)
   PUBMED   7789993
REFERENCE   8  (bases 1 to 4192)
  AUTHORS   Weber G, Friedman E, Grimmond S, Hayward NK, Phelan C, Skogseid B,
            Gobl A, Zedenius J, Sandelin K, Teh BT et al.
  TITLE     The phospholipase C beta 3 gene located in the MEN1 region shows
            loss of expression in endocrine tumours
  JOURNAL   Hum Mol Genet 3 (10), 1775-1781 (1994)
   PUBMED   7849701
REFERENCE   9  (bases 1 to 4192)
  AUTHORS   Carozzi AJ, Kriz RW, Webster C and Parker PJ.
  TITLE     Identification, purification and characterization of a novel
            phosphatidylinositol-specific phospholipase C, a third member of the
            beta subfamily
  JOURNAL   Eur J Biochem 210 (2), 521-529 (1992)
   PUBMED   1333955
REFERENCE   10  (bases 1 to 4192)
  AUTHORS   Banno Y, Yada Y and Nozawa Y.
  TITLE     Purification and characterization of membrane-bound phospholipase C
            specific for phosphoinositides from human platelets
  JOURNAL   J Biol Chem 263 (23), 11459-11465 (1988)
   PUBMED   2841328
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC142681.1, SRR11853560.5479.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000279230.12/ ENSP00000279230.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001453.6 and BC142681.1.
            On Mar 5, 2020 this sequence version replaced NM_000932.4.
            Summary: This gene encodes a member of the phosphoinositide
            phospholipase C beta enzyme family that catalyze the production of
            the secondary messengers diacylglycerol and inositol
            1,4,5-triphosphate from phosphatidylinositol in G-protein-linked
            receptor-mediated signal transduction. Alternative splicing results
            in multiple transcript variants.[provided by RefSeq, May 2010].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1). Variants 1 and 3 both encode the same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4192
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..4192
                     /gene="PLCB3"
                     /gene_synonym="SMDCD"
                     /note="phospholipase C beta 3"
                     /db_xref="GeneID:5331"
                     /db_xref="HGNC:HGNC:9056"
                     /db_xref="MIM:600230"
     CDS             121..3825
                     /gene="PLCB3"
                     /gene_synonym="SMDCD"
                     /EC_number="3.1.4.11"
                     /note="isoform 1 is encoded by transcript variant 1; PLC
                     beta 3; phosphoinositide phospholipase C-beta-3;
                     1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase
                     beta-3; phospholipase C, beta 3
                     (phosphatidylinositol-specific)"
                     /codon_start=1
                     /product="1-phosphatidylinositol 4,5-bisphosphate
                     phosphodiesterase beta-3 isoform 1"
                     /protein_id="NP_000923.1"
                     /db_xref="CCDS:CCDS8064.1"
                     /db_xref="GeneID:5331"
                     /db_xref="HGNC:HGNC:9056"
                     /db_xref="MIM:600230"
                     /translation="MAGAQPGVHALQLEPPTVVETLRRGSKFIKWDEETSSRNLVTLRV
                     DPNGFFLYWTGPNMEVDTLDISSIRDTRTGRYARLPKDPKIREVLGFGGPDARLEEKLM
                     TVVSGPDPVNTVFLNFMAVQDDTAKVWSEELFKLAMNILAQNASRNTFLRKAYTKLKLQ
                     VNQDGRIPVKNILKMFSADKKRVETALESCGLKFNRSESIRPDEFSLEIFERFLNKLCL
                     RPDIDKILLEIGAKGKPYLTLEQLMDFINQKQRDPRLNEVLYPPLRPSQARLLIEKYEP
                     NQQFLERDQMSMEGFSRYLGGEENGILPLEALDLSTDMTQPLSAYFINSSHNTYLTAGQ
                     LAGTSSVEMYRQALLWGCRCVELDVWKGRPPEEEPFITHGFTMTTEVPLRDVLEAIAET
                     AFKTSPYPVILSFENHVDSAKQQAKMAEYCRSIFGDALLIEPLDKYPLAPGVPLPSPQD
                     LMGRILVKNKKRHRPSAGGPDSAGRKRPLEQSNSALSESSAATEPSSPQLGSPSSDSCP
                     GLSNGEEVGLEKPSLEPQKSLGDEGLNRGPYVLGPADREDEEEDEEEEEQTDPKKPTTD
                     EGTASSEVNATEEMSTLVNYIEPVKFKSFEAARKRNKCFEMSSFVETKAMEQLTKSPME
                     FVEYNKQQLSRIYPKGTRVDSSNYMPQLFWNVGCQLVALNFQTLDVAMQLNAGVFEYNG
                     RSGYLLKPEFMRRPDKSFDPFTEVIVDGIVANALRVKVISGQFLSDRKVGIYVEVDMFG
                     LPVDTRRKYRTRTSQGNSFNPVWDEEPFDFPKVVLPTLASLRIAAFEEGGKFVGHRILP
                     VSAIRSGYHYVCLRNEANQPLCLPALLIYTEASDYIPDDHQDYAEALINPIKHVSLMDQ
                     RARQLAALIGESEAQAGQETCQDTQSQQLGSQPSSNPTPSPLDASPRRPPGPTTSPAST
                     SLSSPGQRDDLIASILSEVAPTPLDELRGHKALVKLRSRQERDLRELRKKHQRKAVTLT
                     RRLLDGLAQAQAEGRCRLRPGALGGAADVEDTKEGEDEAKRYQEFQNRQVQSLLELREA
                     QVDAEAQRRLEHLRQALQRLREVVLDANTTQFKRLKEMNEREKKELQKILDRKRHNSIS
                     EAKMRDKHKKEAELTEINRRHITESVNSIRRLEEAQKQRHDRLVAGQQQVLQQLAEEEP
                     KLLAQLAQECQEQRARLPQEIRRSLLGEMPEGLGDGPLVACASNGHAPGSSGHLSGADS
                     ESQEENTQL"
     misc_feature    124..126
                     /gene="PLCB3"
                     /gene_synonym="SMDCD"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (Q01970.2); acetylation site"
     misc_feature    1519..1881
                     /gene="PLCB3"
                     /gene_synonym="SMDCD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01970.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1540..1542
                     /gene="PLCB3"
                     /gene_synonym="SMDCD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q01970.2); phosphorylation site"
     misc_feature    1588..1590
                     /gene="PLCB3"
                     /gene_synonym="SMDCD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q01970.2); phosphorylation site"
     misc_feature    1603..1605
                     /gene="PLCB3"
                     /gene_synonym="SMDCD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q01970.2); phosphorylation site"
     misc_feature    1729..1731
                     /gene="PLCB3"
                     /gene_synonym="SMDCD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q01970.2); phosphorylation site"
     misc_feature    2779..2931
                     /gene="PLCB3"
                     /gene_synonym="SMDCD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01970.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2896..2898
                     /gene="PLCB3"
                     /gene_synonym="SMDCD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q01970.2); phosphorylation site"
     misc_feature    3433..3435
                     /gene="PLCB3"
                     /gene_synonym="SMDCD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q01970.2); phosphorylation site"
     misc_feature    3712..3822
                     /gene="PLCB3"
                     /gene_synonym="SMDCD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01970.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3811..3822
                     /gene="PLCB3"
                     /gene_synonym="SMDCD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01970.2);
                     Region: Interaction with SHANK2. /evidence=ECO:0000250"
     regulatory      4172..4177
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLCB3"
                     /gene_synonym="SMDCD"
                     /note="hexamer: AATAAA"
     polyA_site      4192
                     /gene="PLCB3"
                     /gene_synonym="SMDCD"
                     /note="major polyA site"
ORIGIN
        1 agactggcgg gcgggcgggc actgacgccg cggggccgga gcgggccgcg cggtgggagc
       61 agcggcgccg tcggtccccg tcagggctcc gtgggtcccc gacccgcccc tggccgggcc
      121 atggcgggcg cccagcccgg cgtccacgcg ctgcagttgg agccgcccac cgtggtggag
      181 accctgcggc gcgggagtaa gttcatcaaa tgggacgagg agacctccag tcggaacctg
      241 gtgaccctgc gtgtggaccc caatggcttc ttcttgtact ggacgggccc caacatggag
      301 gtggacacac tggacatcag ttccatcagg gacacacgga caggccggta cgcccgcctg
      361 cccaaggacc ccaagatccg ggaagttctg ggctttgggg gtcccgatgc ccggctggag
      421 gagaagctga tgacggtggt gtctgggcca gacccagtga acacagtgtt cttgaacttc
      481 atggccgtgc aggatgacac agccaaggtc tggtctgagg agctattcaa gctggctatg
      541 aacatcctgg ctcagaacgc ctcccggaac accttcctgc gcaaagcata cacgaagctg
      601 aagctgcagg tgaaccagga tggtcggatc cccgtcaaga acatcctgaa gatgttctca
      661 gcagacaaga agcgggtgga gactgcgctg gaatcctgtg gcctcaaatt caaccggagt
      721 gagtccatcc ggcctgatga gttttccttg gaaatctttg agcggttcct gaacaagctg
      781 tgtctgcggc cggacattga caagatcctg ctggagatag gcgccaaggg caagccatac
      841 ctgacgctgg agcagctcat ggacttcatc aaccagaagc aacgcgaccc gagactcaac
      901 gaagtgctgt acccgcccct gcggccctcc caggcccggc tgctcatcga aaagtatgag
      961 cccaaccagc agtttctgga gcgagaccag atgtccatgg agggctttag ccgctacctg
     1021 ggaggcgagg agaatggcat cctgcccctg gaagccctgg atctgagcac ggacatgacc
     1081 cagccactga gtgcctactt catcaactcc tcgcataaca cctatctcac tgcggggcag
     1141 ctggctggga cctcgtcggt ggagatgtac cgccaggcac tactatgggg ctgccgctgc
     1201 gtggagctgg acgtgtggaa gggacggccg cctgaggagg aacccttcat tacccacggc
     1261 ttcaccatga ccacagaggt gcctctgcgc gacgtgctgg aggccattgc cgagactgcc
     1321 ttcaagacct cgccctaccc cgtcatcctc tccttcgaga accatgtgga ctcggcaaag
     1381 caacaggcaa agatggctga gtactgccgc tccatctttg gagacgcgct actcatcgag
     1441 cctctggaca agtacccgct ggccccaggc gttcccctgc ccagccccca ggacctgatg
     1501 ggccgtatcc tggtgaagaa caagaagcgg caccgaccca gcgcaggtgg cccagacagc
     1561 gccgggcgca agcggcccct ggagcagagc aattctgccc tgagcgagag ctccgcggcc
     1621 accgagccct cctccccgca gctggggtct cccagctctg acagctgccc aggcctgagc
     1681 aatggggagg aggtagggct tgagaagccc agcctggagc ctcagaagtc tctgggtgac
     1741 gagggcctga accgaggccc ctatgttctt ggacctgctg accgtgagga tgaggaggaa
     1801 gatgaggaag aggaggaaca gacagacccc aaaaagccaa ctacagatga gggcacagcc
     1861 agcagcgagg tgaatgccac tgaggagatg tccacgcttg tcaactacat cgaacctgtc
     1921 aagttcaagt cctttgaggc tgctcgaaag aggaacaaat gcttcgagat gtcgtccttt
     1981 gtggagacca aggccatgga gcaactgacc aagagcccca tggagtttgt ggaatacaac
     2041 aagcagcagc tcagccgcat ctaccccaag ggcacccgcg tggactcctc caactacatg
     2101 ccccagctct tctggaacgt agggtgccag cttgttgcgc tcaacttcca gaccctcgat
     2161 gtggcgatgc agctcaacgc gggcgttttt gagtacaacg ggcgcagcgg gtacctgctc
     2221 aagccggagt tcatgcggcg gccggacaag tccttcgacc ccttcactga ggtcatcgtg
     2281 gatggcatcg tggccaatgc cttgcgggtc aaggtgatct cagggcagtt cctgtccgac
     2341 aggaaggtgg gcatctacgt ggaggtggac atgtttggcc tccctgttga tacgcggcgc
     2401 aagtaccgca cccggacctc tcaggggaac tcgttcaacc ccgtgtggga cgaagagccc
     2461 ttcgacttcc ccaaggtggt gctgcccacg ctggcttcac ttcgcattgc agcctttgag
     2521 gaggggggta aattcgtagg gcaccggatc ctgcctgtct ctgccatccg ctccggatac
     2581 cactacgtct gcctgcggaa cgaggccaac caaccgctgt gcctgccggc cctgctcatc
     2641 tacaccgaag cctcggacta cattcctgac gaccaccagg actatgcgga ggccctgatc
     2701 aaccccatta agcacgtcag cctgatggac cagagggccc ggcagctggc cgccctcatt
     2761 ggggagagtg aggctcaggc tggccaagag acgtgccagg acacccagtc tcagcagctg
     2821 gggtctcagc cgtcctcaaa ccccaccccc agcccactgg atgcctcccc ccgccggccc
     2881 cctggcccca ccacctcccc tgccagcacc tccctcagca gcccagggca gcgtgatgat
     2941 ctcatcgcca gcatcctctc agaggtggcc cccaccccgc tggatgagct ccgaggtcac
     3001 aaggctctgg tcaagctccg gagccggcaa gagcgagacc tgcgggagct gcgcaagaag
     3061 catcagcgga aggcagtcac cctcacccgc cgcctgctgg atggcctggc tcaggcacag
     3121 gctgagggca ggtgccggct gcggccaggt gccctaggtg gggccgctga tgtggaggac
     3181 acgaaggagg gggaggacga ggcaaagcgg tatcaggagt tccagaacag acaggtgcag
     3241 agcctgctgg agctgcggga ggcccaggtg gacgcagagg cccagcggag gctggaacac
     3301 ctgagacagg ctctgcagcg gctcagggag gtcgtccttg atgcaaacac aactcagttc
     3361 aagaggctga aagagatgaa cgagagggag aagaaggagc tgcagaagat cctggacaga
     3421 aagcgccata acagcatctc ggaggccaag atgagggaca agcataagaa ggaggcggaa
     3481 ctgacggaga ttaaccgtcg gcacatcact gagtcagtca actccatccg tcggctggag
     3541 gaggcccaga agcagcggca tgaccgtctt gtggctgggc agcagcaggt cctgcaacag
     3601 ctggcagaag aggagcccaa gctgctggcc cagctggccc aggagtgtca ggagcagcgg
     3661 gcgaggctcc cccaggagat ccgccggagc ctgctgggcg agatgccgga ggggctgggg
     3721 gacgggcctc tggtggcctg tgccagcaac ggtcacgcac ccgggagcag cgggcacctg
     3781 tcgggcgctg actcggagag ccaggaggag aacacgcagc tctgaactgg ctgagcgagg
     3841 tggccacagg gccagggcgg gcgctgggtg gagggcagga ggcaatgaca ctaatgcttt
     3901 tttttttttt ttttaacttt ttatctagaa attttatttt tttaaacccg gggcaagtac
     3961 ctcagctaac tcccttcatc ctcctggggc ccctccttcc tgccctcagt cttaggttag
     4021 ggccttggtc agggctttgc tccctgtgac acccacaccc tcgagctagc agcgtctcct
     4081 cccttccccg ggagagctgg ctggagactt ggagctccgg gaagtaggag tcacattttt
     4141 ttctctattc tttggggatt ttttttacat gaataaaagt ggatttcagg ga
//
LOCUS       NM_000934               2249 bp    mRNA    linear   PRI 18-MAR-2023
DEFINITION  Homo sapiens serpin family F member 2 (SERPINF2), transcript variant
            1, mRNA.
ACCESSION   NM_000934
VERSION     NM_000934.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2249)
  AUTHORS   Pechlivani N, Kearney KJ and Ajjan RA.
  TITLE     Fibrinogen and Antifibrinolytic Proteins: Interactions and Future
            Therapeutics
  JOURNAL   Int J Mol Sci 22 (22), 12537 (2021)
   PUBMED   34830419
  REMARK    GeneRIF: Fibrinogen and Antifibrinolytic Proteins: Interactions and
            Future Therapeutics. Review article Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2249)
  AUTHORS   Niwa H, Kanno Y, Shu E and Seishima M.
  TITLE     Decrease in matrix metalloproteinase-3 activity in systemic
            sclerosis fibroblasts causes alpha2-antiplasmin and extracellular
            matrix deposition, and contributes to fibrosis development
  JOURNAL   Mol Med Rep 22 (4), 3001-3007 (2020)
   PUBMED   32945390
  REMARK    GeneRIF: Decrease in matrix metalloproteinase3 activity in systemic
            sclerosis fibroblasts causes alpha2antiplasmin and extracellular
            matrix deposition, and contributes to fibrosis development.
REFERENCE   3  (bases 1 to 2249)
  AUTHORS   Bryk AH, Satala D, Natorska J, Rapala-Kozik M and Undas A.
  TITLE     Interaction of glycated and acetylated human alpha2-antiplasmin with
            fibrin clots
  JOURNAL   Blood Coagul Fibrinolysis 31 (6), 393-396 (2020)
   PUBMED   32815915
  REMARK    GeneRIF: Interaction of glycated and acetylated human
            alpha2-antiplasmin with fibrin clots.
REFERENCE   4  (bases 1 to 2249)
  AUTHORS   Bryk AH, Cysewski D, Dadlez M and Undas A.
  TITLE     Identification of glycated and acetylated lysine residues in human
            alpha2-antiplasmin
  JOURNAL   Biochem Biophys Res Commun 521 (1), 19-23 (2020)
   PUBMED   31653347
  REMARK    GeneRIF: human alpha2-antiplasmin is glycated and acetylated at
            several sites, with the possible competition between acetylation and
            glycation at K-182 and K-448; finding suggests possibly relevant
            alterations to alpha2-antiplasmin function at high glycemia and
            during aspirin use
REFERENCE   5  (bases 1 to 2249)
  AUTHORS   Bangert K, Johnsen AH, Christensen U and Thorsen S.
  TITLE     Different N-terminal forms of alpha 2-plasmin inhibitor in human
            plasma
  JOURNAL   Biochem J 291 (Pt 2) (Pt 2), 623-625 (1993)
   PUBMED   8484741
REFERENCE   6  (bases 1 to 2249)
  AUTHORS   Hirosawa S, Nakamura Y, Miura O, Sumi Y and Aoki N.
  TITLE     Organization of the human alpha 2-plasmin inhibitor gene
  JOURNAL   Proc Natl Acad Sci U S A 85 (18), 6836-6840 (1988)
   PUBMED   3166140
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1989 Mar;86(5):1612-13]
REFERENCE   7  (bases 1 to 2249)
  AUTHORS   Lijnen,H.R., Holmes,W.E., van Hoef,B., Wiman,B., Rodriguez,H. and
            Collen,D.
  TITLE     Amino-acid sequence of human alpha 2-antiplasmin
  JOURNAL   Eur J Biochem 166 (3), 565-574 (1987)
   PUBMED   2440681
REFERENCE   8  (bases 1 to 2249)
  AUTHORS   Wiman,B. and Collen,D.
  TITLE     On the mechanism of the reaction between human alpha 2-antiplasmin
            and plasmin
  JOURNAL   J Biol Chem 254 (18), 9291-9297 (1979)
   PUBMED   158022
REFERENCE   9  (bases 1 to 2249)
  AUTHORS   Wiman,B. and Collen,D.
  TITLE     Purification and characterization of human antiplasmin, the
            fast-acting plasmin inhibitor in plasma
  JOURNAL   Eur J Biochem 78 (1), 19-26 (1977)
   PUBMED   21075
REFERENCE   10  (bases 1 to 2249)
  AUTHORS   Moroi,M. and Aoki,N.
  TITLE     Isolation and characterization of alpha2-plasmin inhibitor from
            human plasma. A novel proteinase inhibitor which inhibits
            activator-induced clot lysis
  JOURNAL   J Biol Chem 251 (19), 5956-5965 (1976)
   PUBMED   134998
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1206999.1,
            SRR14038191.2900383.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000453066.6/ ENSP00000402286.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX107460.1, BC031592.1 and
            J02654.1.
            On Dec 27, 2019 this sequence version replaced NM_000934.3.
            Summary: This gene encodes a member of the serpin family of serine
            protease inhibitors. The protein is a major inhibitor of plasmin,
            which degrades fibrin and various other proteins. Consequently, the
            proper function of this gene has a major role in regulating the
            blood clotting pathway. Mutations in this gene result in
            alpha-2-plasmin inhibitor deficiency, which is characterized by
            severe hemorrhagic diathesis. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Sep 2009].
            Transcript Variant: This variant (1) represents the longest
            transcript. Both variants 1 and 2 encode the same isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2249
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     gene            1..2249
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /note="serpin family F member 2"
                     /db_xref="GeneID:5345"
                     /db_xref="HGNC:HGNC:9075"
                     /db_xref="MIM:613168"
     CDS             43..1518
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /note="isoform a precursor is encoded by transcript variant
                     1; alpha-2-plasmin inhibitor; serine (or cysteine)
                     proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment
                     epithelium derived factor), member 2; serpin F2;
                     alpha-2-AP; serpin peptidase inhibitor, clade F (alpha-2
                     antiplasmin, pigment epithelium derived factor), member 2"
                     /codon_start=1
                     /product="alpha-2-antiplasmin isoform a precursor"
                     /protein_id="NP_000925.2"
                     /db_xref="CCDS:CCDS11011.1"
                     /db_xref="GeneID:5345"
                     /db_xref="HGNC:HGNC:9075"
                     /db_xref="MIM:613168"
                     /translation="MALLWGLLVLSWSCLQGPCSVFSPVSAMEPLGRQLTSGPNQEQVS
                     PLTLLKLGNQEPGGQTALKSPPGVCSRDPTPEQTHRLARAMMAFTADLFSLVAQTSTCP
                     NLILSPLSVALALSHLALGAQNHTLQRLQQVLHAGSGPCLPHLLSRLCQDLGPGAFRLA
                     ARMYLQKGFPIKEDFLEQSEQLFGAKPVSLTGKQEDDLANINQWVKEATEGKIQEFLSG
                     LPEDTVLLLLNAIHFQGFWRNKFDPSLTQRDSFHLDEQFTVPVEMMQARTYPLRWFLLE
                     QPEIQVAHFPFKNNMSFVVLVPTHFEWNVSQVLANLSWDTLHPPLVWERPTKVRLPKLY
                     LKHQMDLVATLSQLGLQELFQAPDLRGISEQSLVVSGVQHQSTLELSEVGVEAAAATSI
                     AMSRMSLSSFSVNRPFLFFIFEDTTGLPLFVGSVRNPNPSAPRELKEQQDSPGNKDFLQ
                     SLKGFPRGDKLFGPDLKLVPPMEEDYPQFGSPK"
     sig_peptide     43..123
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     124..1515
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /product="alpha-2-antiplasmin isoform a"
     misc_feature    157..162
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /note="Cleavage, by prolyl endopeptidase FAP,
                     antiplasmin-cleaving enzyme FAP soluble form.
                     /evidence=ECO:0000269|PubMed:14751930,
                     ECO:0000269|PubMed:16223769; propagated from
                     UniProtKB/Swiss-Prot (P08697.3); cleavage site"
     misc_feature    205..270
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /note="propagated from UniProtKB/Swiss-Prot (P08697.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    418..420
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P08697.3); glycosylation site"
     misc_feature    925..927
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P08697.3); glycosylation site"
     misc_feature    967..969
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P08697.3); glycosylation site"
     misc_feature    988..990
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08697.3); glycosylation site"
     misc_feature    1249..1254
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /note="Reactive bond for plasmin; propagated from
                     UniProtKB/Swiss-Prot (P08697.3); other site"
     misc_feature    1252..1257
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /note="Reactive bond for chymotrypsin; propagated from
                     UniProtKB/Swiss-Prot (P08697.3); other site"
     misc_feature    1351..1515
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /note="propagated from UniProtKB/Swiss-Prot (P08697.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1492..1494
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /note="Sulfotyrosine. /evidence=ECO:0000269|PubMed:2434496;
                     propagated from UniProtKB/Swiss-Prot (P08697.3);
                     sulfatation site"
     regulatory      2232..2237
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /note="hexamer: AATAAA"
     polyA_site      2249
                     /gene="SERPINF2"
                     /gene_synonym="A2AP; AAP; ALPHA-2-PI; alpha2AP; API; PLI"
                     /note="major polyA site"
ORIGIN
        1 agaggaacgt tgtgtgtggc agcaaggagc ccgcagagga acatggcgct gctctggggg
       61 ctcctggtgc tcagctggtc ctgcctgcaa ggcccctgct ccgtgttctc ccctgtgagc
      121 gccatggagc ccttgggccg gcagctaact agcgggccga accaggagca ggtgtcccca
      181 cttaccctcc tcaagttggg caaccaggag cctggtggcc agactgccct gaagagtccc
      241 ccaggagtct gcagcagaga ccccacccca gagcagaccc acaggctggc ccgggccatg
      301 atggccttca ctgccgacct gttctccctg gtggctcaaa cgtccacctg ccccaacctc
      361 atcctgtcac ccctgagtgt ggccctggcg ctgtctcacc tggcactagg tgctcagaac
      421 cacacgttgc agaggctgca acaggtgctg cacgcaggct cagggccctg cctcccccat
      481 ctgctgagcc gcctctgcca ggacctgggc cccggcgcgt tccgactggc tgccaggatg
      541 tacctgcaga aaggatttcc catcaaagaa gatttcctgg aacaatccga acagctattt
      601 ggggcaaagc ccgtgagcct gacgggaaag caggaagatg acctggcaaa catcaaccaa
      661 tgggtgaagg aggccacgga ggggaagatt caggaattcc tctctgggct gccggaagac
      721 accgtgttgc ttctcctcaa cgccatccac ttccagggtt tctggaggaa caagtttgac
      781 ccgagcctta cccagagaga ctccttccac ctggacgagc agttcacggt gcccgtggaa
      841 atgatgcagg cccgcacgta cccgctgcgc tggttcttgc tggagcagcc tgagatccag
      901 gtggctcatt tcccctttaa gaacaacatg agctttgtgg tccttgtacc cacccacttt
      961 gaatggaacg tgtcccaggt actggccaac ctgagttggg acaccctgca cccacctctg
     1021 gtgtgggaga ggcccaccaa ggtccggctg cctaagctgt atctgaaaca ccaaatggac
     1081 ctggtggcca ccctcagcca gctgggcctg caggagttgt tccaggcccc agacctgcgt
     1141 gggatctccg agcagagcct ggtggtgtcc ggcgtgcagc atcagtccac cctggagctc
     1201 agcgaggtcg gcgtggaggc ggcggcggcc accagcattg ccatgtcccg catgtccctg
     1261 tcctccttca gcgtgaaccg ccccttcctc ttcttcatct tcgaggacac cacaggcctt
     1321 cccctcttcg tgggcagcgt gaggaacccc aaccccagtg caccgcggga gctcaaggaa
     1381 cagcaggatt ccccgggcaa caaggacttc ctccagagcc tgaaaggctt cccccgcgga
     1441 gacaagcttt tcggccctga cttaaaactt gtgcccccca tggaggagga ttacccccag
     1501 tttggcagcc ccaagtgagg ggccgtggct gtggcatcca gagtccctgc ctggaccagc
     1561 ctctccactc atgtgactct ttccaaccgg ctttgtggca ctggggcagg ggccgggggc
     1621 agtctgagag aggccattct ttcccaacac ctcttgggga gtttagggtg gggggggggc
     1681 gcggctggga ggagggcagg catcggggag ccgggagcct gaccctcatc tttcttccaa
     1741 acaggctcag agggtgtcct gcaccggggc ctgggcagga gggaggtgct tctagttctg
     1801 ccaggagaca ggttagctgc tccccacgtc agctgggaca ccccgacttt tgtttaccag
     1861 agaaaaaggg agggggagag ggctgccttt ggacttgtcc cgggacacct aggctagggt
     1921 ggggagagac gggccctggt ggtggctcgg gaggcgaagc gttgtcctca gccccgcgtg
     1981 gaactcgtgt ctggcacagc ctggctgtgg cctaacctgc cgagagtcca tcagcctcca
     2041 tcctaccccc tgtgccttgt cacgccagac ttcccacggc tcctcgagat cccaacactg
     2101 ccagcatttc ccttccttcc tctcctgtct ccctcctctg cccgggagct caggaaccga
     2161 ggcagggaag gatcccatga gctccttaag gctcttttgt aaggtttttg tagtgatttt
     2221 tatgccacct gaataaagaa tgaatgggc
//
LOCUS       NM_000936               1483 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens pancreatic lipase (PNLIP), mRNA.
ACCESSION   NM_000936
VERSION     NM_000936.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1483)
  AUTHORS   Toldi V, Kassay N and Szabo A.
  TITLE     Missense PNLIP mutations impeding pancreatic lipase secretion cause
            protein misfolding and endoplasmic reticulum stress
  JOURNAL   Pancreatology 21 (7), 1317-1325 (2021)
   PUBMED   34373204
  REMARK    GeneRIF: Missense PNLIP mutations impeding pancreatic lipase
            secretion cause protein misfolding and endoplasmic reticulum stress.
REFERENCE   2  (bases 1 to 1483)
  AUTHORS   de Oliveira C, Khatua B, Noel P, Kostenko S, Bag A, Balakrishnan B,
            Patel KS, Guerra AA, Martinez MN, Trivedi S, McCullough A,
            Lam-Himlin DM, Navina S, Faigel DO, Fukami N, Pannala R, Phillips
            AE, Papachristou GI, Kershaw EE, Lowe ME and Singh VP.
  TITLE     Pancreatic triglyceride lipase mediates lipotoxic systemic
            inflammation
  JOURNAL   J Clin Invest 130 (4), 1931-1947 (2020)
   PUBMED   31917686
  REMARK    GeneRIF: Pancreatic triglyceride lipase mediates lipotoxic systemic
            inflammation.
REFERENCE   3  (bases 1 to 1483)
  AUTHORS   Lasher D, Szabo A, Masamune A, Chen JM, Xiao X, Whitcomb DC, Barmada
            MM, Ewers M, Ruffert C, Paliwal S, Issarapu P, Bhaskar S, Mani KR,
            Chandak GR, Laumen H, Masson E, Kume K, Hamada S, Nakano E, Seltsam
            K, Bugert P, Muller T, Groneberg DA, Shimosegawa T, Rosendahl J,
            Ferec C, Lowe ME, Witt H and Sahin-Toth M.
  TITLE     Protease-Sensitive Pancreatic Lipase Variants Are Associated With
            Early Onset Chronic Pancreatitis
  JOURNAL   Am J Gastroenterol 114 (6), 974-983 (2019)
   PUBMED   30789418
  REMARK    GeneRIF: Our data indicate that protease-sensitive PNLIP variants
            are novel genetic risk factors for the development of CP.
REFERENCE   4  (bases 1 to 1483)
  AUTHORS   Bang CS, Kim JB, Park SH, Baik GH, Su KT, Yoon JH, Kim YS and Kim
            DJ.
  TITLE     Clinical efficacy of serum lipase subtype analysis for the
            differential diagnosis of pancreatic and non-pancreatic lipase
            elevation
  JOURNAL   Korean J Intern Med 31 (4), 660-668 (2016)
   PUBMED   27243230
  REMARK    GeneRIF: Serum lipase subtype analysis cannot replace the standard
            lipase measurement for the diagnosis of acute pancreatitis, but the
            test demonstrated adequate sensitivity for use in triage or as an
            add-on test for serum lipase elevation.
REFERENCE   5  (bases 1 to 1483)
  AUTHORS   Szabo A, Xiao X, Haughney M, Spector A, Sahin-Toth M and Lowe ME.
  TITLE     A novel mutation in PNLIP causes pancreatic triglyceride lipase
            deficiency through protein misfolding
  JOURNAL   Biochim Biophys Acta 1852 (7), 1372-1379 (2015)
   PUBMED   25862608
  REMARK    GeneRIF: Presence of methionine at position 221 in the PNLIP protein
            sequence causes protein misfolding and aggregation.
REFERENCE   6  (bases 1 to 1483)
  AUTHORS   Sims HF, Jennens ML and Lowe ME.
  TITLE     The human pancreatic lipase-encoding gene: structure and
            conservation of an Alu sequence in the lipase gene family
  JOURNAL   Gene 131 (2), 281-285 (1993)
   PUBMED   8406023
REFERENCE   7  (bases 1 to 1483)
  AUTHORS   van Tilbeurgh H, Sarda L, Verger R and Cambillau C.
  TITLE     Structure of the pancreatic lipase-procolipase complex
  JOURNAL   Nature 359 (6391), 159-162 (1992)
   PUBMED   1522902
REFERENCE   8  (bases 1 to 1483)
  AUTHORS   Giller T, Buchwald P, Blum-Kaelin D and Hunziker W.
  TITLE     Two novel human pancreatic lipase related proteins, hPLRP1 and
            hPLRP2. Differences in colipase dependence and in lipase activity
  JOURNAL   J Biol Chem 267 (23), 16509-16516 (1992)
   PUBMED   1379598
REFERENCE   9  (bases 1 to 1483)
  AUTHORS   Davis RC, Diep A, Hunziker W, Klisak I, Mohandas T, Schotz MC,
            Sparkes RS and Lusis AJ.
  TITLE     Assignment of human pancreatic lipase gene (PNLIP) to chromosome
            10q24-q26
  JOURNAL   Genomics 11 (4), 1164-1166 (1991)
   PUBMED   1783385
REFERENCE   10  (bases 1 to 1483)
  AUTHORS   Winkler FK, D'Arcy A and Hunziker W.
  TITLE     Structure of human pancreatic lipase
  JOURNAL   Nature 343 (6260), 771-774 (1990)
   PUBMED   2106079
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.242809.1,
            SRR5189667.132593.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369221.2/ ENSP00000358223.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL731653.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000936.3.
            Summary: This gene encodes a member of the lipase family of
            proteins. The encoded enzyme is secreted by the pancreas and
            hydrolyzes triglycerides in the small intestine, and is essential
            for the efficient digestion of dietary fats. Inhibition of the
            encoded enzyme may prevent high-fat diet-induced obesity in mice
            and result in weight loss in human patients with obesity. Mutations
            in this gene cause congenital pancreatic lipase deficiency, a rare
            disorder characterized by steatorrhea. [provided by RefSeq, Jul
            2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1483
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.3"
     gene            1..1483
                     /gene="PNLIP"
                     /gene_synonym="PL; PNLIPD; PTL"
                     /note="pancreatic lipase"
                     /db_xref="GeneID:5406"
                     /db_xref="HGNC:HGNC:9155"
                     /db_xref="MIM:246600"
     CDS             29..1426
                     /gene="PNLIP"
                     /gene_synonym="PL; PNLIPD; PTL"
                     /EC_number="3.1.1.3"
                     /note="pancreatic triacylglycerol lipase; triacylglycerol
                     acylhydrolase"
                     /codon_start=1
                     /product="pancreatic triacylglycerol lipase precursor"
                     /protein_id="NP_000927.1"
                     /db_xref="CCDS:CCDS7594.1"
                     /db_xref="GeneID:5406"
                     /db_xref="HGNC:HGNC:9155"
                     /db_xref="MIM:246600"
                     /translation="MLPLWTLSLLLGAVAGKEVCYERLGCFSDDSPWSGITERPLHILP
                     WSPKDVNTRFLLYTNENPNNFQEVAADSSSISGSNFKTNRKTRFIIHGFIDKGEENWLA
                     NVCKNLFKVESVNCICVDWKGGSRTGYTQASQNIRIVGAEVAYFVEFLQSAFGYSPSNV
                     HVIGHSLGAHAAGEAGRRTNGTIGRITGLDPAEPCFQGTPELVRLDPSDAKFVDVIHTD
                     GAPIVPNLGFGMSQVVGHLDFFPNGGVEMPGCKKNILSQIVDIDGIWEGTRDFAACNHL
                     RSYKYYTDSIVNPDGFAGFPCASYNVFTANKCFPCPSGGCPQMGHYADRYPGKTNDVGQ
                     KFYLDTGDASNFARWRYKVSVTLSGKKVTGHILVSLFGNKGNSKQYEIFKGTLKPDSTH
                     SNEFDSDVDVGDLQMVKFIWYNNVINPTLPRVGASKIIVETNVGKQFNFCSPETVREEV
                     LLTLTPC"
     sig_peptide     29..76
                     /gene="PNLIP"
                     /gene_synonym="PL; PNLIPD; PTL"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     77..1423
                     /gene="PNLIP"
                     /gene_synonym="PL; PNLIPD; PTL"
                     /product="Pancreatic triacylglycerol lipase.
                     /id=PRO_0000017785"
                     /note="propagated from UniProtKB/Swiss-Prot (P16233.1)"
     misc_feature    575..577
                     /gene="PNLIP"
                     /gene_synonym="PL; PNLIPD; PTL"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P16233.1); glycosylation site"
     regulatory      1462..1467
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNLIP"
                     /gene_synonym="PL; PNLIPD; PTL"
                     /note="hexamer: AATAAA"
     polyA_site      1483
                     /gene="PNLIP"
                     /gene_synonym="PL; PNLIPD; PTL"
                     /note="major polyA site"
ORIGIN
        1 gcgtgtggaa cctgacggaa ctgccacgat gctgccactt tggactcttt cactgctgct
       61 gggagcagta gcaggaaaag aagtttgcta cgaaagactc ggctgcttca gtgatgactc
      121 cccatggtca ggaattacgg aaagacccct ccatatattg ccttggtctc caaaagatgt
      181 caacacccgc ttcctcctat atactaatga gaacccaaac aactttcaag aagttgccgc
      241 agattcatca agcatcagtg gctccaattt caaaacaaat agaaaaactc gctttattat
      301 tcatggattc atagacaagg gagaagaaaa ctggctggcc aatgtgtgca agaatctgtt
      361 caaggtggaa agtgtgaact gtatctgtgt ggactggaaa ggtggctccc gaactggata
      421 cacacaagcc tcgcagaaca tcaggatcgt gggagcagaa gtggcatatt ttgttgaatt
      481 tcttcagtcg gcgttcggtt actcaccttc caatgtgcat gtcattggcc acagcctggg
      541 tgcccacgct gctggggagg ctggaaggag aaccaatggg accattggac gcatcacagg
      601 gttggaccca gcagaacctt gctttcaggg cacacctgaa ttagtccgat tggaccccag
      661 cgatgccaaa tttgtggatg taattcacac ggatggtgcc cccatagtcc ccaatttggg
      721 gtttggaatg agccaagtcg tgggccacct agatttcttt ccaaatggag gagtggaaat
      781 gcctggatgt aaaaagaaca ttctctctca gattgtggac atagacggaa tctgggaagg
      841 gactcgagac tttgcggcct gtaatcactt aagaagctac aaatattaca ctgatagcat
      901 cgtcaaccct gatggctttg ctggattccc ctgtgcctct tacaacgtct tcactgcaaa
      961 caagtgtttc ccttgtccaa gtggaggctg cccacagatg ggtcactatg ctgatagata
     1021 tcctgggaaa acaaatgatg tgggccagaa attttatcta gacactggtg atgccagtaa
     1081 ttttgcacgt tggaggtata aggtatctgt cacactgtct ggaaaaaagg ttacaggaca
     1141 catactagtt tctttgttcg gaaataaagg aaactctaag cagtatgaaa ttttcaaggg
     1201 cactctcaaa ccagatagta ctcattccaa tgaatttgac tcagatgtgg atgttgggga
     1261 cttgcagatg gttaaattta tttggtataa caatgtgatc aacccaactt tacctagagt
     1321 gggagcatcc aagattatag tggagacaaa tgttggaaaa cagttcaact tctgtagtcc
     1381 agaaaccgtc agggaggaag ttctgctcac cctcacaccg tgttaggaga ctactgttat
     1441 ttgaccaatg aattgacttc taataaaatc tagtggtgat gca
//
LOCUS       NM_000937               6749 bp    mRNA    linear   PRI 13-JUL-2023
DEFINITION  Homo sapiens RNA polymerase II subunit A (POLR2A), mRNA.
ACCESSION   NM_000937
VERSION     NM_000937.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6749)
  AUTHORS   Anastasopoulou S, Georgakopoulos T and Mouzaki A.
  TITLE     HIV-1 Transcriptional Activator Tat Inhibits IL2 Expression by
            Preventing the Presence of Pol II on the IL2 Promoter
  JOURNAL   Biomolecules 13 (6), 881 (2023)
   PUBMED   37371461
  REMARK    GeneRIF: HIV-1 Transcriptional Activator Tat Inhibits IL2 Expression
            by Preventing the Presence of Pol II on the IL2 Promoter.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6749)
  AUTHORS   Ohe S, Kubota Y, Yamaguchi K, Takagi Y, Nashimoto J, Kozuka-Hata H,
            Oyama M, Furukawa Y and Takekawa M.
  TITLE     ERK-mediated NELF-A phosphorylation promotes transcription
            elongation of immediate-early genes by releasing promoter-proximal
            pausing of RNA polymerase II
  JOURNAL   Nat Commun 13 (1), 7476 (2022)
   PUBMED   36463234
  REMARK    GeneRIF: ERK-mediated NELF-A phosphorylation promotes transcription
            elongation of immediate-early genes by releasing promoter-proximal
            pausing of RNA polymerase II. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6749)
  AUTHORS   Munoz JC, Beckerman I, Choudhary R, Bouvier LA and Munoz MJ.
  TITLE     DNA Damage-Induced RNAPII Degradation and Its Consequences in Gene
            Expression
  JOURNAL   Genes (Basel) 13 (11), 1951 (2022)
   PUBMED   36360188
  REMARK    GeneRIF: DNA Damage-Induced RNAPII Degradation and Its Consequences
            in Gene Expression. Review article Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6749)
  AUTHORS   Lao L, Bourdeau I, Gagliardi L, He X, Shi W, Hao B, Tan M, Hu Y,
            Peng J, Coulombe B, Torpy DJ, Scott HS, Lacroix A, Luo H and Wu J.
  TITLE     ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in
            adrenal hyperplasia
  JOURNAL   Nucleic Acids Res 50 (11), 6343-6367 (2022)
   PUBMED   35687106
  REMARK    GeneRIF: ARMC5 is part of an RPB1-specific ubiquitin ligase
            implicated in adrenal hyperplasia.
REFERENCE   5  (bases 1 to 6749)
  AUTHORS   Acker J, Mattei MG, Wintzerith M, Roeckel N, Depetris D, Vigneron M
            and Kedinger C.
  TITLE     Chromosomal localization of human RNA polymerase II subunit genes
  JOURNAL   Genomics 20 (3), 496-499 (1994)
   PUBMED   8034326
REFERENCE   6  (bases 1 to 6749)
  AUTHORS   Barron-Casella E and Corden JL.
  TITLE     Conservation of the mammalian RNA polymerase II largest-subunit
            C-terminal domain
  JOURNAL   J Mol Evol 35 (5), 405-410 (1992)
   PUBMED   1487824
REFERENCE   7  (bases 1 to 6749)
  AUTHORS   Kato H, Sumimoto H, Pognonec P, Chen CH, Rosen CA and Roeder RG.
  TITLE     HIV-1 Tat acts as a processivity factor in vitro in conjunction with
            cellular elongation factors
  JOURNAL   Genes Dev 6 (4), 655-666 (1992)
   PUBMED   1559613
REFERENCE   8  (bases 1 to 6749)
  AUTHORS   Wintzerith M, Acker J, Vicaire S, Vigneron M and Kedinger C.
  TITLE     Complete sequence of the human RNA polymerase II largest subunit
  JOURNAL   Nucleic Acids Res 20 (4), 910 (1992)
   PUBMED   1542581
REFERENCE   9  (bases 1 to 6749)
  AUTHORS   Jacob GA, Luse SW and Luse DS.
  TITLE     Abortive initiation is increased only for the weakest members of a
            set of down mutants of the adenovirus 2 major late promoter
  JOURNAL   J Biol Chem 266 (33), 22537-22544 (1991)
   PUBMED   1939271
REFERENCE   10  (bases 1 to 6749)
  AUTHORS   Smith,S.S., Kelly,K.H. and Jockusch,B.M.
  TITLE     Actin co-purifies with RNA polymerase II
  JOURNAL   Biochem Biophys Res Commun 86 (1), 161-166 (1979)
   PUBMED   435297
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X63564.1, BC137231.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC113189.11, X63564.1,
            BC137231.1, BQ353795.1, BU730469.1 and AW589665.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 1, 2018 this sequence version replaced NM_000937.4.
            Summary: This gene encodes the largest subunit of RNA polymerase
            II, the polymerase responsible for synthesizing messenger RNA in
            eukaryotes. The product of this gene contains a carboxy terminal
            domain composed of heptapeptide repeats that are essential for
            polymerase activity. These repeats contain serine and threonine
            residues that are phosphorylated in actively transcribing RNA
            polymerase. In addition, this subunit, in combination with several
            other polymerase subunits, forms the DNA binding domain of the
            polymerase, a groove in which the DNA template is transcribed into
            RNA. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6749
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..6749
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="RNA polymerase II subunit A"
                     /db_xref="GeneID:5430"
                     /db_xref="HGNC:HGNC:9187"
                     /db_xref="MIM:180660"
     misc_feature    364..366
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="upstream in-frame stop codon"
     CDS             400..6312
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /EC_number="2.7.7.6"
                     /EC_number="2.7.7.48"
                     /note="RNA-directed RNA polymerase II subunit RPB1;
                     DNA-directed RNA polymerase II subunit A; DNA-directed RNA
                     polymerase II largest subunit, RNA polymerase II 220 kd
                     subunit; RNA polymerase II subunit B1; DNA-directed RNA
                     polymerase III largest subunit; polymerase (RNA) II (DNA
                     directed) polypeptide A, 220kDa; polymerase (RNA) II
                     subunit A"
                     /codon_start=1
                     /product="DNA-directed RNA polymerase II subunit RPB1"
                     /protein_id="NP_000928.1"
                     /db_xref="GeneID:5430"
                     /db_xref="HGNC:HGNC:9187"
                     /db_xref="MIM:180660"
                     /translation="MHGGGPPSGDSACPLRTIKRVQFGVLSPDELKRMSVTEGGIKYPE
                     TTEGGRPKLGGLMDPRQGVIERTGRCQTCAGNMTECPGHFGHIELAKPVFHVGFLVKTM
                     KVLRCVCFFCSKLLVDSNNPKIKDILAKSKGQPKKRLTHVYDLCKGKNICEGGEEMDNK
                     FGVEQPEGDEDLTKEKGHGGCGRYQPRIRRSGLELYAEWKHVNEDSQEKKILLSPERVH
                     EIFKRISDEECFVLGMEPRYARPEWMIVTVLPVPPLSVRPAVVMQGSARNQDDLTHKLA
                     DIVKINNQLRRNEQNGAAAHVIAEDVKLLQFHVATMVDNELPGLPRAMQKSGRPLKSLK
                     QRLKGKEGRVRGNLMGKRVDFSARTVITPDPNLSIDQVGVPRSIAANMTFAEIVTPFNI
                     DRLQELVRRGNSQYPGAKYIIRDNGDRIDLRFHPKPSDLHLQTGYKVERHMCDGDIVIF
                     NRQPTLHKMSMMGHRVRILPWSTFRLNLSVTTPYNADFDGDEMNLHLPQSLETRAEIQE
                     LAMVPRMIVTPQSNRPVMGIVQDTLTAVRKFTKRDVFLERGEVMNLLMFLSTWDGKVPQ
                     PAILKPRPLWTGKQIFSLIIPGHINCIRTHSTHPDDEDSGPYKHISPGDTKVVVENGEL
                     IMGILCKKSLGTSAGSLVHISYLEMGHDITRLFYSNIQTVINNWLLIEGHTIGIGDSIA
                     DSKTYQDIQNTIKKAKQDVIEVIEKAHNNELEPTPGNTLRQTFENQVNRILNDARDKTG
                     SSAQKSLSEYNNFKSMVVSGAKGSKINISQVIAVVGQQNVEGKRIPFGFKHRTLPHFIK
                     DDYGPESRGFVENSYLAGLTPTEFFFHAMGGREGLIDTAVKTAETGYIQRRLIKSMESV
                     MVKYDATVRNSINQVVQLRYGEDGLAGESVEFQNLATLKPSNKAFEKKFRFDYTNERAL
                     RRTLQEDLVKDVLSNAHIQNELEREFERMREDREVLRVIFPTGDSKVVLPCNLLRMIWN
                     AQKIFHINPRLPSDLHPIKVVEGVKELSKKLVIVNGDDPLSRQAQENATLLFNIHLRST
                     LCSRRMAEEFRLSGEAFDWLLGEIESKFNQAIAHPGEMVGALAAQSLGEPATQMTLNTF
                     HYAGVSAKNVTLGVPRLKELINISKKPKTPSLTVFLLGQSARDAERAKDILCRLEHTTL
                     RKVTANTAIYYDPNPQSTVVAEDQEWVNVYYEMPDFDVARISPWLLRVELDRKHMTDRK
                     LTMEQIAEKINAGFGDDLNCIFNDDNAEKLVLRIRIMNSDENKMQEEEEVVDKMDDDVF
                     LRCIESNMLTDMTLQGIEQISKVYMHLPQTDNKKKIIITEDGEFKALQEWILETDGVSL
                     MRVLSEKDVDPVRTTSNDIVEIFTVLGIEAVRKALERELYHVISFDGSYVNYRHLALLC
                     DTMTCRGHLMAITRHGVNRQDTGPLMKCSFEETVDVLMEAAAHGESDPMKGVSENIMLG
                     QLAPAGTGCFDLLLDAEKCKYGMEIPTNIPGLGAAGPTGMFFGSAPSPMGGISPAMTPW
                     NQGATPAYGAWSPSVGSGMTPGAAGFSPSAASDASGFSPGYSPAWSPTPGSPGSPGPSS
                     PYIPSPGGAMSPSYSPTSPAYEPRSPGGYTPQSPSYSPTSPSYSPTSPSYSPTSPNYSP
                     TSPSYSPTSPSYSPTSPSYSPTSPSYSPTSPSYSPTSPSYSPTSPSYSPTSPSYSPTSP
                     SYSPTSPSYSPTSPSYSPTSPSYSPTSPSYSPTSPSYSPTSPSYSPTSPNYSPTSPNYT
                     PTSPSYSPTSPSYSPTSPNYTPTSPNYSPTSPSYSPTSPSYSPTSPSYSPSSPRYTPQS
                     PTYTPSSPSYSPSSPSYSPTSPKYTPTSPSYSPSSPEYTPTSPKYSPTSPKYSPTSPKY
                     SPTSPTYSPTTPKYSPTSPTYSPTSPVYTPTSPKYSPTSPTYSPTSPKYSPTSPTYSPT
                     SPKGSTYSPTSPGYSPTSPTYSLTSPAISPDDSDEEN"
     misc_feature    400..402
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); acetylation site"
     misc_feature    478..480
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    1048..1050
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    2896..2934
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P24928.2);
                     Region: Bridging helix"
     misc_feature    5035..6309
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P24928.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5176..6279
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="propagated from UniProtKB/Swiss-Prot (P24928.2);
                     Region: C-terminal domain (CTD), 52 X 7 AA approximate
                     tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]"
     misc_feature    5206..5208
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Omega-N-methylated arginine, by CARM1, in vitro.
                     /evidence=ECO:0000269|PubMed:26700805; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); methylation site"
     misc_feature    5827..5829
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Asymmetric dimethylarginine, alternate, by CARM1.
                     /evidence=ECO:0000269|PubMed:21454787,
                     ECO:0000269|PubMed:26700805; Symmetric dimethylarginine,
                     alternate, by PRMT5. /evidence=ECO:0000269|PubMed:26700805;
                     propagated from UniProtKB/Swiss-Prot (P24928.2);
                     methylation site"
     misc_feature    5911..5913
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P08775; N6-methyllysine,
                     alternate. /evidence=ECO:0000250|UniProtKB:P08775;
                     propagated from UniProtKB/Swiss-Prot (P24928.2);
                     methylation site"
     misc_feature    5917..5919
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    5926..5928
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26566685,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    5932..5934
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    5938..5940
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P08775; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    5944..5946
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26566685,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    5947..5949
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26566685,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    5959..5961
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    5968..5970
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    5974..5976
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:26566685; N6-methyllysine,
                     alternate. /evidence=ECO:0000269|PubMed:26566685;
                     propagated from UniProtKB/Swiss-Prot (P24928.2);
                     methylation site"
     misc_feature    5977..5979
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    5980..5982
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    5986..5988
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    5989..5991
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26566685,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    5995..5997
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:26566685;
                     N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:26566685; N6-methyllysine,
                     alternate. /evidence=ECO:0000269|PubMed:26566685;
                     propagated from UniProtKB/Swiss-Prot (P24928.2);
                     methylation site"
     misc_feature    5995..5997
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); acetylation site"
     misc_feature    5998..6000
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6001..6003
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6007..6009
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6016..6018
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:26566685;
                     N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P08775; N6-methyllysine,
                     alternate. /evidence=ECO:0000269|PubMed:26566685;
                     propagated from UniProtKB/Swiss-Prot (P24928.2);
                     methylation site"
     misc_feature    6019..6021
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:26566685,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P24928.2);
                     phosphorylation site"
     misc_feature    6022..6024
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6028..6030
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6031..6033
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26566685,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P24928.2);
                     phosphorylation site"
     misc_feature    6040..6042
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6043..6045
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26566685,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P24928.2);
                     phosphorylation site"
     misc_feature    6052..6054
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6058..6060
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P08775; N6-methyllysine,
                     alternate. /evidence=ECO:0000269|PubMed:26566685;
                     propagated from UniProtKB/Swiss-Prot (P24928.2);
                     methylation site"
     misc_feature    6058..6060
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); acetylation site"
     misc_feature    6079..6081
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P08775; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6085..6087
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6094..6096
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6115..6117
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6121..6123
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="N6,N6-dimethyllysine.
                     /evidence=ECO:0000250|UniProtKB:P08775; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); methylation site"
     misc_feature    6124..6126
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:26566685,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6133..6135
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6136..6138
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26566685,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6142..6144
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6145..6147
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6148..6150
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26566685,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P24928.2);
                     phosphorylation site"
     misc_feature    6154..6156
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6157..6159
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26566685,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6163..6165
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P08775; N6-methyllysine,
                     alternate. /evidence=ECO:0000305|PubMed:26566685;
                     propagated from UniProtKB/Swiss-Prot (P24928.2);
                     methylation site"
     misc_feature    6163..6165
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000305|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); acetylation site"
     misc_feature    6166..6168
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:26566685,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6175..6177
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6178..6180
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26566685,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6184..6186
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6187..6189
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6190..6192
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:26566685,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P24928.2);
                     phosphorylation site"
     misc_feature    6196..6198
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); phosphorylation site"
     misc_feature    6199..6201
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P24928.2);
                     phosphorylation site"
     misc_feature    6205..6207
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P08775; N6-methyllysine,
                     alternate. /evidence=ECO:0000305|PubMed:26566685;
                     propagated from UniProtKB/Swiss-Prot (P24928.2);
                     methylation site"
     misc_feature    6205..6207
                     /gene="POLR2A"
                     /gene_synonym="hRPB220; hsRPB1; NEDHIB; POLR2; POLRA; RPB1;
                     RPBh1; RpIILS; RPO2; RPOL2"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000305|PubMed:26566685; propagated from
                     UniProtKB/Swiss-Prot (P24928.2); acetylation site"
ORIGIN
        1 gctcagaagc gccgagagcg cggccgggac ggttggagaa gaaggcggct cccggaaggg
       61 ggagagacaa actgccgtaa cctctgccgt tcaggaaccc ggttacttat ttattcgtta
      121 ccctttttct tcttcctccc ccaaaaacct tttccttttc ccttcttttt ttttcctttt
      181 tgggagctga aaaatttccg gtaagggaaa gaagggctcc tttcgctcct tatttccccg
      241 cctccttccc tcccccacct tcccctcctc cggctttttc ctcccaactc ggggaggtcc
      301 ttcccggtgg ccgccctgac gaggtctgag cacctaggcg gaggcggcgc aggctttttg
      361 tagtgaggtt tgcgcctgcg cagcgcgcct gcctccgcca tgcacggggg tggccccccc
      421 tcgggggaca gcgcatgccc gctgcgcacc atcaagagag tccagttcgg agtcctgagt
      481 ccggatgaac tgaagcgaat gtctgtgacg gagggtggca tcaaataccc agagacgact
      541 gagggaggcc gccccaagct tggggggctg atggacccga ggcagggggt gattgagcgg
      601 actggccgct gccaaacatg tgcaggaaac atgacagagt gtcctggcca ctttggccac
      661 attgaactgg ccaagcctgt gtttcacgtg ggcttcctgg tgaagacaat gaaagttttg
      721 cgctgtgtct gcttcttctg ctccaaactg cttgtggact ctaacaaccc aaagatcaag
      781 gatatcctgg ctaagtccaa gggacagccc aagaagcggc tcacacatgt ctacgacctt
      841 tgcaagggca aaaacatatg cgagggtggg gaggagatgg acaacaagtt cggtgtggaa
      901 caacctgagg gtgacgagga tctgaccaaa gaaaagggcc atggtggctg tgggcggtac
      961 cagcccagga tccggcgttc tggcctagag ctgtatgcgg aatggaagca cgttaatgag
     1021 gactctcagg agaagaagat cctgctgagt ccagagcgag tgcatgagat cttcaaacgc
     1081 atctcagatg aggagtgttt tgtgctgggc atggagcccc gctatgcacg gccagagtgg
     1141 atgattgtca cagtgctgcc tgtgcccccg ctctccgtgc ggcctgctgt tgtgatgcag
     1201 ggctctgccc gtaaccagga tgacctgact cacaaactgg ctgacatcgt gaagatcaac
     1261 aatcagctgc ggcgcaatga gcagaacggc gcagcggccc atgtcattgc agaggatgtg
     1321 aagctcctcc agttccatgt ggccaccatg gtggacaatg agctgcctgg cttgccccgt
     1381 gccatgcaga agtctgggcg tcccctcaag tccctgaagc agcggttgaa gggcaaggaa
     1441 ggccgggtgc gagggaacct gatgggcaaa agagtggact tctcggcccg tactgtcatc
     1501 acccccgacc ccaacctctc cattgaccag gttggcgtgc cccgctccat tgctgccaac
     1561 atgacctttg cggagattgt cacccccttc aacattgaca gacttcaaga actagtgcgc
     1621 agggggaaca gccagtaccc aggcgccaag tacatcatcc gagacaatgg tgatcgcatt
     1681 gacttgcgtt tccaccccaa gcccagtgac cttcacctgc agaccggcta taaggtggaa
     1741 cggcacatgt gtgatgggga cattgttatc ttcaaccggc agccaactct gcacaaaatg
     1801 tccatgatgg ggcatcgggt ccgcattctc ccatggtcta cctttcgctt gaatcttagt
     1861 gtgacaactc cgtacaatgc agactttgac ggggatgaga tgaacttgca cctgccacag
     1921 tctctggaga cgcgagcaga gatccaggag ctggccatgg ttcctcgcat gattgtcacc
     1981 ccccagagca atcggcctgt catgggtatt gtgcaggaca cactcacagc agtgcgcaaa
     2041 ttcaccaaga gagacgtctt cctggagcgg ggtgaagtga tgaacctcct gatgttcctg
     2101 tcgacgtggg atgggaaggt cccacagccg gccatcctaa agccccggcc cctgtggaca
     2161 ggcaagcaaa tcttctccct catcatacct ggtcacatca attgtatccg tacccacagc
     2221 acccatcccg atgatgaaga cagtggccct tacaagcaca tctctcctgg ggacaccaag
     2281 gtggtggtgg agaatgggga gctgatcatg ggcatcctgt gtaagaagtc tctgggcacg
     2341 tcagctggct ccctggtcca catctcctac ctagagatgg gtcatgacat cactcgcctc
     2401 ttctactcca acattcagac tgtcattaac aactggctcc tcatcgaggg tcatactatt
     2461 ggcattgggg actccattgc tgattctaag acttaccagg acattcagaa cactattaag
     2521 aaggccaagc aggacgtaat agaggtcatc gagaaggcac acaacaatga gctggagccc
     2581 accccaggga acactctgcg gcagacgttt gagaatcagg tgaaccgcat tcttaacgat
     2641 gcccgagaca agactggctc ctctgctcag aaatccctgt ctgaatacaa taacttcaag
     2701 tctatggtcg tgtccggagc taaaggttcc aagattaaca tctcccaggt cattgctgtc
     2761 gttggacagc agaacgtcga gggcaagcgg attccatttg gcttcaagca ccggactctg
     2821 cctcacttca tcaaggatga ctacgggcct gagagccgtg gctttgtgga gaactcctac
     2881 ctagccggcc tcacacccac tgagttcttt ttccacgcca tggggggtcg tgaggggctc
     2941 attgacacgg ctgtcaagac tgctgagact ggatacatcc agcggcggct gatcaagtcc
     3001 atggagtcag tgatggtgaa gtacgacgcg actgtgcgga actccatcaa ccaggtggtg
     3061 cagctgcgct acggcgaaga cggcctggca ggcgagagcg ttgagttcca gaacctggct
     3121 acgcttaagc cttccaacaa ggcttttgag aagaagttcc gctttgatta taccaatgag
     3181 agggccctgc ggcgcactct gcaggaggac ctggtgaagg acgtgctgag caacgcacac
     3241 atccagaacg agttggagcg ggaatttgag cggatgcggg aggatcggga ggtgctcagg
     3301 gtcatcttcc caactggaga cagcaaggtc gtcctcccct gtaacctgct gcggatgatc
     3361 tggaatgctc agaaaatctt ccacatcaac ccacgccttc cctccgacct gcaccccatc
     3421 aaagtggtgg agggagtcaa ggaattgagc aagaagctgg tgattgtgaa tggggatgac
     3481 ccactaagtc gacaggccca ggaaaatgcc acgctgctct tcaacatcca cctgcggtcc
     3541 acgttgtgtt cccgccgcat ggcagaggag tttcggctca gtggggaggc cttcgactgg
     3601 ctgcttgggg agattgagtc caagttcaac caagccattg cgcatcccgg ggaaatggtg
     3661 ggggctctgg ctgcgcagtc ccttggagaa cctgccaccc agatgacctt gaataccttc
     3721 cactatgctg gtgtgtctgc caagaatgtg acgctgggtg tgccccgact taaggagctc
     3781 atcaacattt ccaagaagcc aaagactcct tcgcttactg tcttcctgtt gggccagtcc
     3841 gctcgagatg ctgagagagc caaggatatt ctgtgccgtc tggagcatac aacgttgagg
     3901 aaggtgactg ccaacacagc catctactat gaccccaacc cccagagcac ggtggtggca
     3961 gaggatcagg aatgggtgaa tgtctactat gaaatgcctg actttgatgt ggcccgaatc
     4021 tccccctggc tgttgcgggt ggagctggat cggaagcaca tgactgaccg gaagctcacc
     4081 atggagcaga ttgctgaaaa gatcaatgct ggttttggtg acgacttgaa ctgcatcttt
     4141 aatgatgaca atgcagagaa gctggtgctc cgtattcgca tcatgaacag cgatgagaac
     4201 aagatgcaag aggaggaaga ggtggtggac aagatggatg atgatgtctt cctgcgctgc
     4261 atcgagtcca acatgctgac agatatgacc ctgcagggca tcgagcagat cagcaaggtg
     4321 tacatgcact tgccacagac agacaacaag aagaagatca tcatcacgga ggatggggaa
     4381 ttcaaggccc tgcaggagtg gatcctggag acggacggcg tgagcttgat gcgggtgctg
     4441 agtgagaagg acgtggaccc cgtacgcacc acgtccaatg acattgtgga gatcttcacg
     4501 gtgctgggca ttgaagccgt gcggaaggcc ctggagcggg agctgtacca cgtcatctcc
     4561 tttgatggct cctatgtcaa ttaccgacac ttggctctct tgtgtgatac catgacctgt
     4621 cgtggccact tgatggccat cacccgacac ggagtcaacc gccaggacac aggaccactc
     4681 atgaagtgtt cctttgagga aacggtggac gtgcttatgg aagcagccgc acacggtgag
     4741 agtgacccca tgaagggggt ctctgagaat atcatgctgg gccagctggc tccggccggc
     4801 actggctgct ttgacctcct gcttgatgca gagaagtgca agtatggcat ggagatcccc
     4861 accaatatcc ccggcctggg ggctgctgga cccaccggca tgttctttgg ttcagcaccc
     4921 agtcccatgg gtggaatctc tcctgccatg acaccttgga accagggtgc aacccctgcc
     4981 tatggcgcct ggtcccccag tgttgggagt ggaatgaccc caggggcagc cggcttctct
     5041 cccagtgctg cgtcagatgc cagcggcttc agcccaggtt actcccctgc ctggtctccc
     5101 acaccgggct ccccggggtc cccaggtccc tcaagcccct acatcccttc accaggtggt
     5161 gccatgtctc ccagctactc gccaacgtca cctgcctacg agccccgctc tcctgggggc
     5221 tacacacccc agagtccctc ttattccccc acttcaccct cctactcccc tacctctcca
     5281 tcctattctc caaccagtcc caactatagt cccacatcac ccagctattc gccaacgtca
     5341 cccagctact caccgacctc tcccagctac tcacccacct ctcccagcta ctcgcccacc
     5401 tctcccagct actcgcccac ctctcccagc tactcaccca cttcccctag ctactcgccc
     5461 acttccccta gctactcgcc aacgtctccc agctactcgc cgacatctcc cagctactcg
     5521 ccaacttcac ccagctattc tcccacttct cccagctact cacctacctc tccaagctat
     5581 tcacccacct cccccagcta ctcacccact tccccaagtt actcacccac cagcccgaac
     5641 tattctccaa ccagtcccaa ttacacccca acatcaccca gctacagccc gacatcaccc
     5701 agctattcac ctactagtcc caactacaca cctaccagcc ctaactacag cccaacctct
     5761 ccaagctact ctccaacatc acccagctat tccccgacct caccaagtta ctccccttcc
     5821 agcccacgat acacaccaca gtctccaacc tataccccaa gctcacccag ctacagcccc
     5881 agctcgccca gctacagccc aacctcaccc aagtacaccc caaccagtcc ttcttacagt
     5941 cccagctccc cagagtatac cccaacctct cccaagtact cacctaccag tcccaaatat
     6001 tcacccacct ctcccaagta ctcgcctacc agtcccacct attcacccac caccccaaaa
     6061 tactccccaa catctcctac ttattcccca acctctccag tctacacccc aacctctccc
     6121 aagtactcac ctactagccc cacttactcg cccacttccc ccaagtactc gcccaccagc
     6181 cccacctact cgcccacctc ccccaaaggc tcaacctact ctcccacttc ccctggttac
     6241 tcgcccacca gccccaccta cagtctcaca agcccggcta tcagcccgga tgacagtgac
     6301 gaggagaact gagggcacgt ggggtgcggc agcgggctag ggcccagggc agcttgcccg
     6361 tgctgctgtg cagttcttgc ctccctcacg gggcgtcacc cccagcccag ctccgttgta
     6421 cataaatgcc ttgtggcaga gctcccggtg aacttctgga tcccgtttct gatgcagact
     6481 cttgtcttgt tctccacttg tgctgttaga actcactggc ccagtggtgt tctcactcct
     6541 accccaccca ccccctgcct gtccccaaat tgaagatcct tccttgcctg tggcttgatg
     6601 cggggcgggt aaagggtatt ttaacttagg ggtagttcct gctgtgagtg gttacagctg
     6661 atcctcggga agaacaaagc taaagctgcc ttttgtctgt tattttattt ttttgaagtt
     6721 taaataaagt ttactaattt tgaccaaaa
//
LOCUS       NM_000938               3785 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens RNA polymerase II subunit B (POLR2B), transcript
            variant 1, mRNA.
ACCESSION   NM_000938
VERSION     NM_000938.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3785)
  AUTHORS   Li XL, Xie Y, Chen YL, Zhang ZM, Tao YF, Li G, Wu D, Wang HR, Zhuo
            R, Pan JJ, Yu JJ, Jia SQ, Zhang Z, Feng CX, Wang JW, Fang F, Qian
            GH, Lu J, Hu SY, Li ZH and Pan J.
  TITLE     The RNA polymerase II subunit B (RPB2) functions as a growth
            regulator in human glioblastoma
  JOURNAL   Biochem Biophys Res Commun 674, 170-182 (2023)
   PUBMED   37423037
  REMARK    GeneRIF: The RNA polymerase II subunit B (RPB2) functions as a
            growth regulator in human glioblastoma.
REFERENCE   2  (bases 1 to 3785)
  AUTHORS   Lykke-Andersen S, Rouviere JO and Jensen TH.
  TITLE     ARS2/SRRT: at the nexus of RNA polymerase II transcription,
            transcript maturation and quality control
  JOURNAL   Biochem Soc Trans 49 (3), 1325-1336 (2021)
   PUBMED   34060620
  REMARK    GeneRIF: ARS2/SRRT: at the nexus of RNA polymerase II transcription,
            transcript maturation and quality control. Review article
REFERENCE   3  (bases 1 to 3785)
  AUTHORS   He M, Xu M, Zhang B, Liang J, Chen P, Lee JY, Johnson TA, Li H, Yang
            X, Dai J, Liang L, Gui L, Qi Q, Huang J, Li Y, Adair LS, Aung T, Cai
            Q, Cheng CY, Cho MC, Cho YS, Chu M, Cui B, Gao YT, Go MJ, Gu D, Gu
            W, Guo H, Hao Y, Hong J, Hu Z, Hu Y, Huang J, Hwang JY, Ikram MK,
            Jin G, Kang DH, Khor CC, Kim BJ, Kim HT, Kubo M, Lee J, Lee J, Lee
            NR, Li R, Li J, Liu J, Longe J, Lu W, Lu X, Miao X, Okada Y, Ong RT,
            Qiu G, Seielstad M, Sim X, Song H, Takeuchi F, Tanaka T, Taylor PR,
            Wang L, Wang W, Wang Y, Wu C, Wu Y, Xiang YB, Yamamoto K, Yang H,
            Liao M, Yokota M, Young T, Zhang X, Kato N, Wang QK, Zheng W, Hu FB,
            Lin D, Shen H, Teo YY, Mo Z, Wong TY, Lin X, Mohlke KL, Ning G,
            Tsunoda T, Han BG, Shu XO, Tai ES, Wu T and Qi L.
  TITLE     Meta-analysis of genome-wide association studies of adult height in
            East Asians identifies 17 novel loci
  JOURNAL   Hum Mol Genet 24 (6), 1791-1800 (2015)
   PUBMED   25429064
REFERENCE   4  (bases 1 to 3785)
  AUTHORS   Grolimund L, Aeby E, Hamelin R, Armand F, Chiappe D, Moniatte M and
            Lingner J.
  TITLE     A quantitative telomeric chromatin isolation protocol identifies
            different telomeric states
  JOURNAL   Nat Commun 4, 2848 (2013)
   PUBMED   24270157
REFERENCE   5  (bases 1 to 3785)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   6  (bases 1 to 3785)
  AUTHORS   Schaller S, Grandemange S, Shpakovski GV, Golemis EA, Kedinger C and
            Vigneron M.
  TITLE     Interactions between the full complement of human RNA polymerase II
            subunits
  JOURNAL   FEBS Lett 461 (3), 253-257 (1999)
   PUBMED   10567706
REFERENCE   7  (bases 1 to 3785)
  AUTHORS   Kershnar E, Wu SY and Chiang CM.
  TITLE     Immunoaffinity purification and functional characterization of human
            transcription factor IIH and RNA polymerase II from clonal cell
            lines that conditionally express epitope-tagged subunits of the
            multiprotein complexes
  JOURNAL   J Biol Chem 273 (51), 34444-34453 (1998)
   PUBMED   9852112
REFERENCE   8  (bases 1 to 3785)
  AUTHORS   Acker J, de Graaff M, Cheynel I, Khazak V, Kedinger C and Vigneron
            M.
  TITLE     Interactions between the human RNA polymerase II subunits
  JOURNAL   J Biol Chem 272 (27), 16815-16821 (1997)
   PUBMED   9201987
REFERENCE   9  (bases 1 to 3785)
  AUTHORS   Acker J, Mattei MG, Wintzerith M, Roeckel N, Depetris D, Vigneron M
            and Kedinger C.
  TITLE     Chromosomal localization of human RNA polymerase II subunit genes
  JOURNAL   Genomics 20 (3), 496-499 (1994)
   PUBMED   8034326
REFERENCE   10  (bases 1 to 3785)
  AUTHORS   Acker J, Wintzerith M, Vigneron M and Kedinger C.
  TITLE     Primary structure of the second largest subunit of human RNA
            polymerase II (or B)
  JOURNAL   J Mol Biol 226 (4), 1295-1299 (1992)
   PUBMED   1518060
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.148220.1, BC023503.2
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000314595.6/ ENSP00000312735.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC023503.2 and AK294901.1.
            On Nov 23, 2018 this sequence version replaced NM_000938.2.
            Summary: This gene encodes the second largest subunit of RNA
            polymerase II (Pol II), a DNA-dependent RNA polymerase that
            catalyzes the transcription of DNA into precursors of mRNA, snRNA
            and microRNA. This subunit and the largest subunit form opposite
            sides of the center cleft of Pol II. Deletion of the flap loop
            region of this subunit results in a decrease in the rate of
            transcriptional elongation. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Dec 2014].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3785
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     gene            1..3785
                     /gene="POLR2B"
                     /gene_synonym="hRPB140; POL2RB; RPB2"
                     /note="RNA polymerase II subunit B"
                     /db_xref="GeneID:5431"
                     /db_xref="HGNC:HGNC:9188"
                     /db_xref="MIM:180661"
     misc_feature    52..54
                     /gene="POLR2B"
                     /gene_synonym="hRPB140; POL2RB; RPB2"
                     /note="upstream in-frame stop codon"
     CDS             91..3615
                     /gene="POLR2B"
                     /gene_synonym="hRPB140; POL2RB; RPB2"
                     /EC_number="2.7.7.6"
                     /note="isoform 1 is encoded by transcript variant 1; RNA
                     polymerase II second largest subunit; DNA-directed RNA
                     polymerase II subunit RPB2; RNA polymerase II subunit 2;
                     RNA polymerase II subunit B2; DNA-directed RNA polymerase
                     II subunit B; DNA-directed RNA polymerase II 140 kDa
                     polypeptide; polymerase (RNA) II (DNA directed) polypeptide
                     B, 140kDa; polymerase (RNA) II subunit B"
                     /codon_start=1
                     /product="DNA-directed RNA polymerase II subunit RPB2
                     isoform 1"
                     /protein_id="NP_000929.1"
                     /db_xref="CCDS:CCDS3511.1"
                     /db_xref="GeneID:5431"
                     /db_xref="HGNC:HGNC:9188"
                     /db_xref="MIM:180661"
                     /translation="MYDADEDMQYDEDDDEITPDLWQEACWIVISSYFDEKGLVRQQLD
                     SFDEFIQMSVQRIVEDAPPIDLQAEAQHASGEVEEPPRYLLKFEQIYLSKPTHWERDGA
                     PSPMMPNEARLRNLTYSAPLYVDITKTVIKEGEEQLQTQHQKTFIGKIPIMLRSTYCLL
                     NGLTDRDLCELNECPLDPGGYFIINGSEKVLIAQEKMATNTVYVFAKKDSKYAYTGECR
                     SCLENSSRPTSTIWVSMLARGGQGAKKSAIGQRIVATLPYIKQEVPIIIVFRALGFVSD
                     RDILEHIIYDFEDPEMMEMVKPSLDEAFVIQEQNVALNFIGSRGAKPGVTKEKRIKYAK
                     EVLQKEMLPHVGVSDFCETKKAYFLGYMVHRLLLAALGRRELDDRDHYGNKRLDLAGPL
                     LAFLFRGMFKNLLKEVRIYAQKFIDRGKDFNLELAIKTRIISDGLKYSLATGNWGDQKK
                     AHQARAGVSQVLNRLTFASTLSHLRRLNSPIGRDGKLAKPRQLHNTLWGMVCPAETPEG
                     HAVGLVKNLALMAYISVGSQPSPILEFLEEWSMENLEEISPAAIADATKIFVNGCWVGI
                     HKDPEQLMNTLRKLRRQMDIIVSEVSMIRDIREREIRIYTDAGRICRPLLIVEKQKLLL
                     KKRHIDQLKEREYNNYSWQDLVASGVVEYIDTLEEETVMLAMTPDDLQEKEVAYCSTYT
                     HCEIHPSMILGVCASIIPFPDHNQSPRNTYQSAMGKQAMGVYITNFHVRMDTLAHVLYY
                     PQKPLVTTRSMEYLRFRELPAGINSIVAIASYTGYNQEDSVIMNRSAVDRGFFRSVFYR
                     SYKEQESKKGFDQEEVFEKPTRETCQGMRHAIYDKLDDDGLIAPGVRVSGDDVIIGKTV
                     TLPENEDELESTNRRYTKRDCSTFLRTSETGIVDQVMVTLNQEGYKFCKIRVRSVRIPQ
                     IGDKFASRHGQKGTCGIQYRQEDMPFTCEGITPDIIINPHAIPSRMTIGHLIECLQGKV
                     SANKGEIGDATPFNDAVNVQKISNLLSDYGYHLRGNEVLYNGFTGRKITSQIFIGPTYY
                     QRLKHMVDDKIHSRARGPIQILNRQPMEGRSRDGGLRFGEMERDCQIAHGAAQFLRERL
                     FEASDPYQVHVCNLCGIMAIANTRTHTYECRGCRNKTQISLVRMPYACKLLFQELMSMS
                     IAPRMMSV"
     misc_feature    2899..2901
                     /gene="POLR2B"
                     /gene_synonym="hRPB140; POL2RB; RPB2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P30876.1); phosphorylation site"
     misc_feature    3244..3246
                     /gene="POLR2B"
                     /gene_synonym="hRPB140; POL2RB; RPB2"
                     /note="N6-methyllysine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P30876.1); methylation site"
     regulatory      3765..3770
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLR2B"
                     /gene_synonym="hRPB140; POL2RB; RPB2"
                     /note="hexamer: AATAAA"
     polyA_site      3785
                     /gene="POLR2B"
                     /gene_synonym="hRPB140; POL2RB; RPB2"
                     /note="major polyA site"
ORIGIN
        1 acttcgtctt tagctcctgg cgctgctggc ttctgggcgg tttttgtctt ttgatttcaa
       61 gagttaggag ctcgagaacc gtttggcaat atgtacgacg cggatgagga tatgcaatat
      121 gatgaggatg atgatgaaat caccccggat ttgtggcaag aagcatgctg gattgtaatc
      181 agttcctatt ttgacgagaa aggcttggtt agacaacagc tggattcttt tgatgagttt
      241 attcagatgt ctgttcaaag aattgtggaa gacgctcctc ctatagacct acaggctgaa
      301 gctcagcatg ctagtggaga agttgaagaa ccgccacgat atttgctgaa gtttgaacaa
      361 atttatcttt ccaagcctac ccattgggaa agagatggtg ctccttcacc aatgatgccc
      421 aatgaagcta gattaaggaa tctcacgtat tctgctccgc tttatgttga tataacaaaa
      481 acagtcatta aagaaggtga agaacaactt cagactcagc atcagaaaac ttttatagga
      541 aaaattccaa ttatgttgcg gtcaacttac tgccttttga atggcttgac agatcgtgat
      601 ctttgtgagt taaatgaatg ccctttggat cctggtggct atttcattat taatggatca
      661 gaaaaggttc tgattgccca agagaaaatg gcaacaaaca cagtttatgt gtttgccaaa
      721 aaggattcta aatatgccta cacaggagag tgtagatcat gtcttgagaa ttcttcccga
      781 cccaccagta ctatatgggt tagcatgctg gcaagaggag gacagggtgc caagaagagt
      841 gctattggtc agcgcattgt ggcaactcta ccatatatca agcaagaagt tcccatcatt
      901 attgtgttca gagcattagg ttttgtgtcc gacagagata ttttagaaca tattatttat
      961 gattttgaag atccagagat gatggaaatg gttaaacctt ctctcgatga agcttttgtc
     1021 atccaagaac agaatgttgc actaaatttc attggttcaa gaggagcaaa gcctggtgtt
     1081 actaaagaga aaagaattaa atatgcaaag gaagttttac aaaaagaaat gctccctcat
     1141 gttggtgtca gtgatttttg tgagaccaaa aaagcctatt tcttgggata catggttcat
     1201 aggttacttc tggcagcttt gggtagaaga gaactagatg acagagatca ctatggaaac
     1261 aagagattgg atcttgctgg gccgctgctt gcattcttat ttagaggtat gtttaagaat
     1321 ttgcttaaag aagtgcggat ctatgcacag aaatttattg atcgaggaaa ggattttaac
     1381 ttggagttgg caattaaaac acggatcata tctgatggcc taaaatactc tttagctact
     1441 ggaaactggg gtgatcaaaa gaaagctcat caagccagag ctggagtatc tcaggtgtta
     1501 aaccgcctga cttttgcgtc tactctttct cacctgcgtc gtttaaattc tcctattggt
     1561 agagacggca agctagcaaa accaagacag ttgcataata cgttgtgggg aatggtgtgt
     1621 cctgccgaga ccccagaggg ccatgctgta ggacttgtga agaatttagc cttgatggcg
     1681 tatatttcag ttggatctca accatctcca attctggaat ttttagaaga atggagtatg
     1741 gaaaatttag aagaaatttc tcctgcagct attgctgatg caaccaagat ttttgttaat
     1801 ggctgctggg ttggaataca taaagatccc gaacaactta tgaacaccct aaggaaattg
     1861 agacgtcaga tggacatcat tgtgtctgaa gtttctatga tcagagatat tcgagagagg
     1921 gagattcgga tctatacgga tgcaggccgt atttgtagac cacttctgat tgtggaaaaa
     1981 caaaagctac ttttgaagaa gaggcatatt gaccaattga aagagagaga atataacaac
     2041 tatagttggc aggatcttgt ggccagtggg gtagtggagt atattgatac cctggaagaa
     2101 gaaacagtga tgcttgcaat gactccagat gatttacagg agaaagaagt agcttattgt
     2161 tccacatata cacactgtga gattcatccc tcaatgatcc ttggtgtctg tgcatctatt
     2221 attccctttc ctgatcataa ccagtcccct agaaacacat accagtctgc tatgggtaag
     2281 caggctatgg gagtttacat caccaacttc catgttcgca tggacacatt ggcccatgtt
     2341 ctctattatc ctcaaaagcc acttgtgact acacggtcta tggaatatct acgatttaga
     2401 gagctgccag caggcatcaa ctcaattgtg gccattgcat catacactgg atataatcag
     2461 gaagactctg ttatcatgaa tcgttcagct gtagaccgcg gcttcttcag gtctgttttc
     2521 tatcgctcat acaaagaaca ggagtctaaa aaaggatttg atcaagaaga agtttttgag
     2581 aagcctacac gtgaaacatg ccagggcatg aggcatgcca tttacgacaa gctggatgat
     2641 gatggtttga tagctccagg ggttcgtgta tcaggagatg atgttattat aggcaaaaca
     2701 gtcaccttgc ctgaaaatga agatgaattg gagagcacca atagacgcta taccaagaga
     2761 gactgtagca cttttctcag aactagcgag acgggcattg tggatcaggt tatggtaact
     2821 ctcaatcagg aaggatataa attttgtaaa ataagggtac gctctgttag gattccacag
     2881 attggagaca aatttgctag tcgacatggt caaaagggta cttgtggtat tcagtataga
     2941 caagaggata tgcctttcac ctgtgaaggt atcacccctg atatcatcat caatccccat
     3001 gccatcccct ctcgtatgac tattggtcac ttaattgaat gccttcaagg gaaggtatcg
     3061 gctaacaagg gtgaaattgg tgatgccact ccatttaatg atgctgttaa cgtgcagaag
     3121 atttctaatc ttttatctga ttatggctat catctcagag gaaatgaggt cctgtacaat
     3181 gggttcactg gtcgaaaaat cacatcacaa atatttattg gccccactta ttaccagcgt
     3241 ttgaagcata tggtggatga taagattcac tctcgtgcta ggggacctat tcagatcctc
     3301 aatagacagc ccatggaggg tagatctcgt gatggtggcc tgcgttttgg agaaatggaa
     3361 cgagattgtc agattgccca tggagcagcc cagtttttaa gggaaagatt gtttgaggca
     3421 tcagatccat atcaggttca tgtttgcaat ctttgtggaa taatggcgat tgccaacacc
     3481 aggacccata catatgaatg caggggctgc cgcaataaaa cccagatttc tttggtgcga
     3541 atgccttacg catgcaaact attgtttcag gaacttatgt ctatgagtat tgcaccgcga
     3601 atgatgagtg tttagctatt ttacaggagt caacaagata attaaatatc ttggtgtctt
     3661 gtttctattg tgtggctttt taaaaatgac aaatatgtac tgtgttgtga taaaaagtat
     3721 tttatttgtt taatgatatg catgcttttc ttctgtaaat atataataaa tttttgtaga
     3781 tagtc
//
LOCUS       NM_000939               1128 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens proopiomelanocortin (POMC), transcript variant 2, mRNA.
ACCESSION   NM_000939
VERSION     NM_000939.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1128)
  AUTHORS   Dall'Olmo L, Papa N, Surdo NC, Marigo I and Mocellin S.
  TITLE     Alpha-melanocyte stimulating hormone (alpha-MSH): biology, clinical
            relevance and implication in melanoma
  JOURNAL   J Transl Med 21 (1), 562 (2023)
   PUBMED   37608347
  REMARK    GeneRIF: Alpha-melanocyte stimulating hormone (alpha-MSH): biology,
            clinical relevance and implication in melanoma. Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1128)
  AUTHORS   Martins MG, Silver Z, Ayoub K, Hyland L, Woodside B, Kiss ACI and
            Abizaid A.
  TITLE     Maternal glucose intolerance during pregnancy affects offspring POMC
            expression and results in adult metabolic alterations in a
            sex-dependent manner
  JOURNAL   Front Endocrinol (Lausanne) 14, 1189207 (2023)
   PUBMED   37396180
  REMARK    GeneRIF: Maternal glucose intolerance during pregnancy affects
            offspring POMC expression and results in adult metabolic alterations
            in a sex-dependent manner. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1128)
  AUTHORS   Singh M and Mukhopadhyay K.
  TITLE     Alpha-melanocyte stimulating hormone: an emerging anti-inflammatory
            antimicrobial peptide
  JOURNAL   Biomed Res Int 2014, 874610 (2014)
   PUBMED   25140322
  REMARK    Review article
REFERENCE   4  (bases 1 to 1128)
  AUTHORS   Pritchard LE and White A.
  TITLE     Neuropeptide processing and its impact on melanocortin pathways
  JOURNAL   Endocrinology 148 (9), 4201-4207 (2007)
   PUBMED   17584964
  REMARK    Review article
REFERENCE   5  (bases 1 to 1128)
  AUTHORS   Raffin-Sanson ML, de Keyzer Y and Bertagna X.
  TITLE     Proopiomelanocortin, a polypeptide precursor with multiple
            functions: from physiology to pathological conditions
  JOURNAL   Eur J Endocrinol 149 (2), 79-90 (2003)
   PUBMED   12887283
  REMARK    GeneRIF: POMC has become a paradigmatic polypeptide precursor model
            illustrating the variable roles of a single gene and its various
            products in different localities--review Review article
REFERENCE   6  (bases 1 to 1128)
  AUTHORS   Challis,B.G. and Millington,G.W.M.
  TITLE     Proopiomelanocortin Deficiency - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24354022
REFERENCE   7  (bases 1 to 1128)
  AUTHORS   Osamura RY.
  TITLE     Processing of proopiomelanocortin (POMC) approached by
            immunoelectron microscopy pre-embedding method
  JOURNAL   Pathol Res Pract 187 (5), 543-545 (1991)
   PUBMED   1656407
REFERENCE   8  (bases 1 to 1128)
  AUTHORS   Takahashi,H., Hakamata,Y., Watanabe,Y., Kikuno,R., Miyata,T. and
            Numa,S.
  TITLE     Complete nucleotide sequence of the human
            corticotropin-beta-lipotropin precursor gene
  JOURNAL   Nucleic Acids Res 11 (19), 6847-6858 (1983)
   PUBMED   6314261
REFERENCE   9  (bases 1 to 1128)
  AUTHORS   Dragon,N., Seidah,N.G., Lis,M., Routhier,R. and Chretien,M.
  TITLE     Primary structure and morphine-like activity of human beta-endorphin
  JOURNAL   Can J Biochem 55 (6), 666-670 (1977)
   PUBMED   195688
REFERENCE   10  (bases 1 to 1128)
  AUTHORS   Li,C.H. and Chung,D.
  TITLE     Primary structure of human beta-lipotropin
  JOURNAL   Nature 260 (5552), 622-624 (1976)
   PUBMED   1264228
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.394204.1, CD513772.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145544 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000395826.7/ ENSP00000379170.2
            Protein has antimicrobial activity :: PMID: 25140322
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY050419.1, CD108235.1,
            BC065832.1 and T29537.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000939.3.
            Summary: This gene encodes a preproprotein that undergoes
            extensive, tissue-specific, post-translational processing via
            cleavage by subtilisin-like enzymes known as prohormone
            convertases. There are eight potential cleavage sites within the
            preproprotein and, depending on tissue type and the available
            convertases, processing may yield as many as ten biologically
            active peptides involved in diverse cellular functions. The encoded
            protein is synthesized mainly in corticotroph cells of the anterior
            pituitary where four cleavage sites are used; adrenocorticotrophin,
            essential for normal steroidogenesis and the maintenance of normal
            adrenal weight, and lipotropin beta are the major end products. In
            other tissues, including the hypothalamus, placenta, and
            epithelium, all cleavage sites may be used, giving rise to peptides
            with roles in pain and energy homeostasis, melanocyte stimulation,
            and immune modulation. These include several distinct
            melanotropins, lipotropins, and endorphins that are contained
            within the adrenocorticotrophin and beta-lipotropin peptides. The
            antimicrobial melanotropin alpha peptide exhibits antibacterial and
            antifungal activity. Mutations in this gene have been associated
            with early onset obesity, adrenal insufficiency, and red hair
            pigmentation. Alternatively spliced transcript variants encoding
            the same protein have been described. [provided by RefSeq, Jan
            2016].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 3. Variants 1-4 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1128
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..1128
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /note="proopiomelanocortin"
                     /db_xref="GeneID:5443"
                     /db_xref="HGNC:HGNC:9201"
                     /db_xref="MIM:176830"
     CDS             104..907
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /note="met-enkephalin; melanotropin gamma; gamma-MSH;
                     adrenocorticotropic hormone; melanotropin alpha; alpha-MSH;
                     corticotropin-like intermediary peptide; lipotropin beta;
                     beta-LPH; lipotropin gamma; gamma-LPH; melanotropin beta;
                     beta-MSH; beta-endorphin; alpha-melanocyte-stimulating
                     hormone; pro-ACTH-endorphin; beta-melanocyte-stimulating
                     hormone; adrenocorticotropin; proopiomelanocortin
                     preproprotein; corticotropin-lipotropin; opiomelanocortin
                     prepropeptide"
                     /codon_start=1
                     /product="pro-opiomelanocortin preproprotein"
                     /protein_id="NP_000930.1"
                     /db_xref="CCDS:CCDS1717.1"
                     /db_xref="GeneID:5443"
                     /db_xref="HGNC:HGNC:9201"
                     /db_xref="MIM:176830"
                     /translation="MPRSCCSRSGALLLALLLQASMEVRGWCLESSQCQDLTTESNLLE
                     CIRACKPDLSAETPMFPGNGDEQPLTENPRKYVMGHFRWDRFGRRNSSSSGSSGAGQKR
                     EDVSAGEDCGPLPEGGPEPRSDGAKPGPREGKRSYSMEHFRWGKPVGKKRRPVKVYPNG
                     AEDESAEAFPLEFKRELTGQRLREGDGPDGPADDGAGAQADLEHSLLVAAEKKDEGPYR
                     MEHFRWGSPPKDKRYGGFMTSEKSQTPLVTLFKNAIIKNAYKKGE"
     sig_peptide     104..181
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     182..409
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /product="NPP. /id=PRO_0000024966"
                     /note="propagated from UniProtKB/Swiss-Prot (P01189.2)"
     misc_feature    314..316
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /note="O-linked (HexNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:6267033; propagated from
                     UniProtKB/Swiss-Prot (P01189.2); glycosylation site"
     mat_peptide     332..364
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /product="Melanotropin gamma.
                     /evidence=ECO:0000269|PubMed:2839146. /id=PRO_0000024967"
                     /note="propagated from UniProtKB/Swiss-Prot (P01189.2)"
     misc_feature    362..364
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /note="Phenylalanine amide. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P01189.2); amidation
                     site"
     misc_feature    365..628
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /note="propagated from UniProtKB/Swiss-Prot (P01189.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    374..376
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P01189.2); glycosylation site"
     mat_peptide     416..505
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /product="Potential peptide. /id=PRO_0000024968"
                     /note="propagated from UniProtKB/Swiss-Prot (P01189.2)"
     misc_feature    503..505
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /note="Glutamic acid 1-amide.
                     /evidence=ECO:0000269|PubMed:6272808; propagated from
                     UniProtKB/Swiss-Prot (P01189.2); amidation site"
     mat_peptide     515..631
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /product="Corticotropin. /id=PRO_0000024969"
                     /note="propagated from UniProtKB/Swiss-Prot (P01189.2)"
     mat_peptide     515..553
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /product="Melanotropin alpha"
                     /experiment="DESCRIPTION:antimicrobial
                     peptide[PMID:25140322]"
                     /exception="alternative processing"
                     /note="occurs in cells other than corticotroph cells of the
                     anterior pituitary"
     misc_feature    515..517
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /note="N-acetylserine, in Corticotropin.
                     /evidence=ECO:0000250|UniProtKB:P01191; propagated from
                     UniProtKB/Swiss-Prot (P01189.2); acetylation site"
     misc_feature    551..553
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /note="Valine amide. /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (P01189.2); amidation site"
     mat_peptide     569..631
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /product="Corticotropin-like intermediary peptide.
                     /id=PRO_0000024971"
                     /note="propagated from UniProtKB/Swiss-Prot (P01189.2)"
     misc_feature    605..607
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16807684; propagated from
                     UniProtKB/Swiss-Prot (P01189.2); phosphorylation site"
     mat_peptide     638..904
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /product="Lipotropin beta. /id=PRO_0000024972"
                     /note="propagated from UniProtKB/Swiss-Prot (P01189.2)"
     mat_peptide     638..805
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /product="Lipotropin gamma. /id=PRO_0000024973"
                     /note="propagated from UniProtKB/Swiss-Prot (P01189.2)"
     misc_feature    644..703
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /note="propagated from UniProtKB/Swiss-Prot (P01189.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     752..805
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /product="Melanocyte-stimulating hormone beta.
                     /id=PRO_0000024974"
                     /note="propagated from UniProtKB/Swiss-Prot (P01189.2)"
     misc_feature    767..826
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /note="propagated from UniProtKB/Swiss-Prot (P01189.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     812..904
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /product="Beta-endorphin. /id=PRO_0000024975"
                     /note="propagated from UniProtKB/Swiss-Prot (P01189.2)"
     mat_peptide     812..826
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /product="Met-enkephalin. /id=PRO_0000024976"
                     /note="propagated from UniProtKB/Swiss-Prot (P01189.2)"
     regulatory      1047..1052
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /note="hexamer: AATAAA"
     polyA_site      1067
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /note="major polyA site"
     regulatory      1106..1111
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
                     /note="hexamer: AGTAAA"
     polyA_site      1128
                     /gene="POMC"
                     /gene_synonym="ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC"
ORIGIN
        1 ggcggcgaag gaggggaaga agagccgcga ccgagagagg ccgccgagcg tccccgccct
       61 cagagagcag cctcccgaga cagagcctca gcctgcctgg aagatgccga gatcgtgctg
      121 cagccgctcg ggggccctgt tgctggcctt gctgcttcag gcctccatgg aagtgcgtgg
      181 ctggtgcctg gagagcagcc agtgtcagga cctcaccacg gaaagcaacc tgctggagtg
      241 catccgggcc tgcaagcccg acctctcggc cgagactccc atgttcccgg gaaatggcga
      301 cgagcagcct ctgaccgaga acccccggaa gtacgtcatg ggccacttcc gctgggaccg
      361 attcggccgc cgcaacagca gcagcagcgg cagcagcggc gcagggcaga agcgcgagga
      421 cgtctcagcg ggcgaagact gcggcccgct gcctgagggc ggccccgagc cccgcagcga
      481 tggtgccaag ccgggcccgc gcgagggcaa gcgctcctac tccatggagc acttccgctg
      541 gggcaagccg gtgggcaaga agcggcgccc agtgaaggtg taccctaacg gcgccgagga
      601 cgagtcggcc gaggccttcc ccctggagtt caagagggag ctgactggcc agcgactccg
      661 ggagggagat ggccccgacg gccctgccga tgacggcgca ggggcccagg ccgacctgga
      721 gcacagcctg ctggtggcgg ccgagaagaa ggacgagggc ccctacagga tggagcactt
      781 ccgctggggc agcccgccca aggacaagcg ctacggcggt ttcatgacct ccgagaagag
      841 ccagacgccc ctggtgacgc tgttcaaaaa cgccatcatc aagaacgcct acaagaaggg
      901 cgagtgaggg cacagcgggg ccccagggct accctccccc aggaggtcga ccccaaagcc
      961 ccttgctctc ccctgccctg ctgccgcctc ccagcctggg gggtcgtggc agataatcag
     1021 cctcttaaag ctgcctgtag ttaggaaata aaacctttca aatttcacat ccacctctga
     1081 ctttgaatgt aaactgtgtg aataaagtaa aaatacgtag ccgtcaaa
//
LOCUS       NM_000940               1191 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens paraoxonase 3 (PON3), mRNA.
ACCESSION   NM_000940
VERSION     NM_000940.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1191)
  AUTHORS   Bjerre KP, Clemmensen TS, Poulsen SH, Hvas AM, Holm NR, Grove EL,
            Bouchelouche K, Kristensen SD and Eiskjaer H.
  TITLE     Micro- and macrovascular cardiac allograft vasculopathy in relation
            to 91 cardiovascular biomarkers in heart transplant recipients-An
            exploratory study
  JOURNAL   Clin Transplant 35 (1), e14133 (2021)
   PUBMED   33128247
  REMARK    GeneRIF: Micro- and macrovascular cardiac allograft vasculopathy in
            relation to 91 cardiovascular biomarkers in heart transplant
            recipients-An exploratory study.
REFERENCE   2  (bases 1 to 1191)
  AUTHORS   Shao B, Mathew AV, Thornock C and Pennathur S.
  CONSRTM   Michigan Kidney Translational Core CPROBE Investigator Group
  TITLE     Altered HDL proteome predicts incident CVD in chronic kidney disease
            patients
  JOURNAL   J Lipid Res 62, 100135 (2021)
   PUBMED   34634315
  REMARK    GeneRIF: Altered HDL proteome predicts incident CVD in chronic
            kidney disease patients.
REFERENCE   3  (bases 1 to 1191)
  AUTHORS   Bedir F, Kocaturk H, Altay MS, Sebin E and Bedir B.
  TITLE     Serum paraoxonase 1 and 3 activities in benign and malignant
            diseases of the prostate and changes in levels following
            robotic-assisted laparoscopic radical prostatectomy
  JOURNAL   Turk J Med Sci 50 (8), 1872-1878 (2020)
   PUBMED   32549522
  REMARK    GeneRIF: Serum paraoxonase 1 and 3 activities in benign and
            malignant diseases of the prostate and changes in levels following
            robotic-assisted laparoscopic radical prostatectomy Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 1191)
  AUTHORS   Zhou H, Zhou J, Li H, Hui C and Bi J.
  TITLE     Paraoxonase 3 gene polymorphisms are associated with occupational
            noise-induced deafness: A matched case-control study from China
  JOURNAL   PLoS One 15 (10), e0240615 (2020)
   PUBMED   33057386
  REMARK    GeneRIF: Paraoxonase 3 gene polymorphisms are associated with
            occupational noise-induced deafness: A matched case-control study
            from China. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1191)
  AUTHORS   Priyanka K, Singh S and Gill K.
  TITLE     Paraoxonase 3: Structure and Its Role in Pathophysiology of Coronary
            Artery Disease
  JOURNAL   Biomolecules 9 (12), 817 (2019)
   PUBMED   31816846
  REMARK    GeneRIF: Paraoxonase 3: Structure and Its Role in Pathophysiology of
            Coronary Artery Disease. Review article Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 1191)
  AUTHORS   Wang X, Fan Z, Huang J, Su S, Yu Q, Zhao J, Hui R, Yao Z, Shen Y,
            Qiang B and Gu D.
  TITLE     Extensive association analysis between polymorphisms of PON gene
            cluster with coronary heart disease in Chinese Han population
  JOURNAL   Arterioscler Thromb Vasc Biol 23 (2), 328-334 (2003)
   PUBMED   12588779
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   7  (bases 1 to 1191)
  AUTHORS   Mackness B, Durrington PN and Mackness MI.
  TITLE     The paraoxonase gene family and coronary heart disease
  JOURNAL   Curr Opin Lipidol 13 (4), 357-362 (2002)
   PUBMED   12151850
  REMARK    GeneRIF: Decreased coronary heart disease risk associated with
            polymorphisms of paraoxonase 1. Review article
REFERENCE   8  (bases 1 to 1191)
  AUTHORS   Reddy ST, Wadleigh DJ, Grijalva V, Ng C, Hama S, Gangopadhyay A,
            Shih DM, Lusis AJ, Navab M and Fogelman AM.
  TITLE     Human paraoxonase-3 is an HDL-associated enzyme with biological
            activity similar to paraoxonase-1 protein but is not regulated by
            oxidized lipids
  JOURNAL   Arterioscler Thromb Vasc Biol 21 (4), 542-547 (2001)
   PUBMED   11304470
REFERENCE   9  (bases 1 to 1191)
  AUTHORS   La Du,B.N.
  TITLE     Is paraoxonase-3 another hdl-associated protein protective against
            atherosclerosis?
  JOURNAL   Arterioscler Thromb Vasc Biol 21 (4), 467-468 (2001)
   PUBMED   11304457
REFERENCE   10  (bases 1 to 1191)
  AUTHORS   Primo-Parmo SL, Sorenson RC, Teiber J and La Du BN.
  TITLE     The human serum paraoxonase/arylesterase gene (PON1) is one member
            of a multigene family
  JOURNAL   Genomics 33 (3), 498-507 (1996)
   PUBMED   8661009
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC070374.1, AF329433.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000265627.10/ ENSP00000265627.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AV655538.1, BC020908.1,
            BC070374.1, CD014095.1 and AA860930.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000940.2.
            Summary: This gene is a member of the paraoxonase family and lies
            in a cluster on chromosome 7 with the other two family members. The
            encoded protein is secreted into the bloodstream and associates
            with high-density lipoprotein (HDL). The protein also rapidly
            hydrolyzes lactones and can inhibit the oxidation of low-density
            lipoprotein (LDL), a function that is believed to slow the
            initiation and progression of atherosclerosis. Alternatively
            spliced variants which encode different protein isoforms have been
            described; however, only one has been fully characterized.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1191
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.3"
     gene            1..1191
                     /gene="PON3"
                     /note="paraoxonase 3"
                     /db_xref="GeneID:5446"
                     /db_xref="HGNC:HGNC:9206"
                     /db_xref="MIM:602720"
     CDS             26..1090
                     /gene="PON3"
                     /EC_number="3.1.1.2"
                     /EC_number="3.1.8.1"
                     /EC_number="3.1.1.81"
                     /note="paraoxanase-3; arylesterase 3"
                     /codon_start=1
                     /product="serum paraoxonase/lactonase 3"
                     /protein_id="NP_000931.1"
                     /db_xref="CCDS:CCDS5639.1"
                     /db_xref="GeneID:5446"
                     /db_xref="HGNC:HGNC:9206"
                     /db_xref="MIM:602720"
                     /translation="MGKLVALVLLGVGLSLVGEMFLAFRERVNASREVEPVEPENCHLI
                     EELESGSEDIDILPSGLAFISSGLKYPGMPNFAPDEPGKIFLMDLNEQNPRAQALEISG
                     GFDKELFNPHGISIFIDKDNTVYLYVVNHPHMKSTVEIFKFEEQQRSLVYLKTIKHELL
                     KSVNDIVVLGPEQFYATRDHYFTNSLLSFFEMILDLRWTYVLFYSPREVKVVAKGFCSA
                     NGITVSADQKYVYVADVAAKNIHIMEKHDNWDLTQLKVIQLGTLVDNLTVDPATGDILA
                     GCHPNPMKLLNYNPEDPPGSEVLRIQNVLSEKPRVSTVYANNGSVLQGTSVASVYHGKI
                     LIGTVFHKTLYCEL"
     misc_feature    110..112
                     /gene="PON3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q15166.3); glycosylation site"
     misc_feature    518..520
                     /gene="PON3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q15166.3); phosphorylation site"
     misc_feature    830..832
                     /gene="PON3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q15166.3); glycosylation site"
     misc_feature    992..994
                     /gene="PON3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (Q15166.3); glycosylation site"
     regulatory      1173..1178
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PON3"
                     /note="hexamer: AGTAAA"
     polyA_site      1191
                     /gene="PON3"
                     /note="major polyA site"
ORIGIN
        1 agtcgccgct gggcaccccg agaccatggg gaagctcgtg gcgctggtcc tgctgggggt
       61 cggcctgtcc ttagtcgggg agatgttcct ggcgtttaga gaaagggtga atgcctctcg
      121 agaagtggag ccagtagaac ctgaaaactg ccaccttatt gaggaacttg aaagtggctc
      181 tgaagatatt gatatacttc ctagtgggct ggcttttatc tccagtggat taaaatatcc
      241 aggcatgcca aactttgcgc cagatgaacc aggaaaaatc ttcttgatgg atctgaatga
      301 acaaaaccca agggcacaag cgctagaaat cagtggtgga tttgacaaag aattatttaa
      361 tccacatggg atcagtattt tcatcgacaa agacaatact gtgtatcttt atgttgtgaa
      421 tcatccccac atgaagtcca ctgtggagat atttaaattt gaggaacaac aacgttctct
      481 ggtatacctg aaaactataa aacatgaact tctcaaaagt gtgaatgaca ttgtggttct
      541 tggaccagaa cagttctatg ccaccagaga ccactatttt accaactccc tcctgtcatt
      601 ttttgagatg atcttggatc ttcgctggac ttatgttctt ttctacagcc caagggaggt
      661 taaagtggtg gccaaaggat tttgtagtgc caatgggatc acagtctcag cagaccagaa
      721 gtatgtctat gtagctgatg tagcagctaa gaacattcac ataatggaaa aacatgataa
      781 ctgggattta actcaactga aggtgataca gttgggcacc ttagtggata acctgactgt
      841 cgatcctgcc acaggagaca ttttggcagg atgccatcct aatcctatga agctactgaa
      901 ctataaccct gaggaccctc caggatcaga agtacttcgc atccagaatg ttttgtctga
      961 gaagcccagg gtgagcaccg tgtatgccaa caatggctct gtgcttcagg gcacctctgt
     1021 ggcttctgtg taccatggga aaattctcat aggcaccgta tttcacaaaa ctctgtactg
     1081 tgagctctag actctagata gtaaaaaaaa aaaaaaaaag tctacatatt ttgtaaaagt
     1141 aaactgataa ttgtatgata agtggcactg taagtaaata gcaaacacca a
//
LOCUS       NM_000942                893 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens peptidylprolyl isomerase B (PPIB), mRNA.
ACCESSION   NM_000942
VERSION     NM_000942.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 893)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 893)
  AUTHORS   Sarro E, Duran M, Rico A, Bou-Teen D, Fernandez-Majada V, Croatt AJ,
            Nath KA, Salcedo MT, Gundelach JH, Batlle D, Bram RJ and Meseguer A.
  TITLE     Cyclophilins A and B oppositely regulate renal tubular epithelial
            cell phenotype
  JOURNAL   J Mol Cell Biol 12 (7), 499-514 (2020)
   PUBMED   32162654
  REMARK    GeneRIF: Cyclophilins A and B oppositely regulate renal tubular
            epithelial cell phenotype.
REFERENCE   3  (bases 1 to 893)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 893)
  AUTHORS   Ma-Lauer Y, Zheng Y, Malesevic M, von Brunn B, Fischer G and von
            Brunn A.
  TITLE     Influences of cyclosporin A and non-immunosuppressive derivatives on
            cellular cyclophilins and viral nucleocapsid protein during human
            coronavirus 229E replication
  JOURNAL   Antiviral Res 173, 104620 (2020)
   PUBMED   31634494
  REMARK    GeneRIF: Influences of cyclosporin A and non-immunosuppressive
            derivatives on cellular cyclophilins and viral nucleocapsid protein
            during human coronavirus 229E replication.
REFERENCE   5  (bases 1 to 893)
  AUTHORS   Teng MR, Huang JA, Zhu ZT, Li H, Shen JF and Chen Q.
  TITLE     Cyclophilin B promotes cell proliferation, migration, invasion and
            angiogenesis via regulating the STAT3 pathway in non-small cell lung
            cancer
  JOURNAL   Pathol Res Pract 215 (6), 152417 (2019)
   PUBMED   31043353
  REMARK    GeneRIF: findings suggested that CypB silencing may suppress the
            proliferation, invasion, migration and angiogenesis of A549 cells
            via inhibiting STAT3 pathway.
REFERENCE   6  (bases 1 to 893)
  AUTHORS   Rasmussen HH, van Damme J, Puype M, Gesser B, Celis JE and
            Vandekerckhove J.
  TITLE     Microsequences of 145 proteins recorded in the two-dimensional gel
            protein database of normal human epidermal keratinocytes
  JOURNAL   Electrophoresis 13 (12), 960-969 (1992)
   PUBMED   1286667
REFERENCE   7  (bases 1 to 893)
  AUTHORS   Arber S, Krause KH and Caroni P.
  TITLE     s-cyclophilin is retained intracellularly via a unique COOH-terminal
            sequence and colocalizes with the calcium storage protein
            calreticulin
  JOURNAL   J Cell Biol 116 (1), 113-125 (1992)
   PUBMED   1530944
REFERENCE   8  (bases 1 to 893)
  AUTHORS   Peddada LB, McPherson JD, Law R, Wasmuth JJ, Youderian P and Deans
            RJ.
  TITLE     Somatic cell mapping of the human cyclophilin B gene (PPIB) to
            chromosome 15
  JOURNAL   Cytogenet Cell Genet 60 (3-4), 219-221 (1992)
   PUBMED   1505219
REFERENCE   9  (bases 1 to 893)
  AUTHORS   Hasel KW, Glass JR, Godbout M and Sutcliffe JG.
  TITLE     An endoplasmic reticulum-specific cyclophilin
  JOURNAL   Mol Cell Biol 11 (7), 3484-3491 (1991)
   PUBMED   1710767
REFERENCE   10  (bases 1 to 893)
  AUTHORS   Price ER, Zydowsky LD, Jin MJ, Baker CH, McKeon FD and Walsh CT.
  TITLE     Human cyclophilin B: a second cyclophilin gene encodes a
            peptidyl-prolyl isomerase with a signal sequence
  JOURNAL   Proc Natl Acad Sci U S A 88 (5), 1903-1907 (1991)
   PUBMED   2000394
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX421459.2, BQ276360.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000300026.4/ ENSP00000300026.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC008848.2 and BC001125.2.
            On Dec 4, 2019 this sequence version replaced NM_000942.4.
            Summary: The protein encoded by this gene is a cyclosporine-binding
            protein and is mainly located within the endoplasmic reticulum. It
            is associated with the secretory pathway and released in biological
            fluids. This protein can bind to cells derived from T- and
            B-lymphocytes, and may regulate cyclosporine A-mediated
            immunosuppression. Variants have been identified in this protein
            that give rise to recessive forms of osteogenesis imperfecta.
            [provided by RefSeq, Oct 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..893
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.31"
     gene            1..893
                     /gene="PPIB"
                     /gene_synonym="CYP-S1; CYPB; HEL-S-39; OI9; SCYLP"
                     /note="peptidylprolyl isomerase B"
                     /db_xref="GeneID:5479"
                     /db_xref="HGNC:HGNC:9255"
                     /db_xref="MIM:123841"
     CDS             37..687
                     /gene="PPIB"
                     /gene_synonym="CYP-S1; CYPB; HEL-S-39; OI9; SCYLP"
                     /EC_number="5.2.1.8"
                     /note="peptidyl-prolyl cis-trans isomerase B;
                     peptidylprolyl isomerase B (cyclophilin B);
                     cyclophilin-like protein; S-cyclophilin; PPIase B; rotamase
                     B; epididymis secretory protein Li 39"
                     /codon_start=1
                     /product="peptidyl-prolyl cis-trans isomerase B precursor"
                     /protein_id="NP_000933.1"
                     /db_xref="CCDS:CCDS10191.1"
                     /db_xref="GeneID:5479"
                     /db_xref="HGNC:HGNC:9255"
                     /db_xref="MIM:123841"
                     /translation="MLRLSERNMKVLLAAALIAGSVFFLLLPGPSAADEKKKGPKVTVK
                     VYFDLRIGDEDVGRVIFGLFGKTVPKTVDNFVALATGEKGFGYKNSKFHRVIKDFMIQG
                     GDFTRGDGTGGKSIYGERFPDENFKLKHYGPGWVSMANAGKDTNGSQFFITTVKTAWLD
                     GKHVVFGKVLEGMEVVRKVESTKTDSRDKPLKDVIIADCGKIEVEKPFAIAKE"
     sig_peptide     37..111
                     /gene="PPIB"
                     /gene_synonym="CYP-S1; CYPB; HEL-S-39; OI9; SCYLP"
     mat_peptide     112..684
                     /gene="PPIB"
                     /gene_synonym="CYP-S1; CYPB; HEL-S-39; OI9; SCYLP"
                     /product="peptidyl-prolyl cis-trans isomerase B"
     misc_feature    478..480
                     /gene="PPIB"
                     /gene_synonym="CYP-S1; CYPB; HEL-S-39; OI9; SCYLP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23284.2); glycosylation site"
     misc_feature    529..531
                     /gene="PPIB"
                     /gene_synonym="CYP-S1; CYPB; HEL-S-39; OI9; SCYLP"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q99KR7; propagated from
                     UniProtKB/Swiss-Prot (P23284.2); acetylation site"
     misc_feature    661..663
                     /gene="PPIB"
                     /gene_synonym="CYP-S1; CYPB; HEL-S-39; OI9; SCYLP"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P24369; propagated from
                     UniProtKB/Swiss-Prot (P23284.2); acetylation site"
     misc_feature    673..684
                     /gene="PPIB"
                     /gene_synonym="CYP-S1; CYPB; HEL-S-39; OI9; SCYLP"
                     /note="propagated from UniProtKB/Swiss-Prot (P23284.2);
                     Region: Prevents secretion from ER"
ORIGIN
        1 ctcagctgtc cgggctgctt tcgcctccgc ctgtggatgc tgcgcctctc cgaacgcaac
       61 atgaaggtgc tccttgccgc cgccctcatc gcggggtccg tcttcttcct gctgctgccg
      121 ggaccttctg cggccgatga gaagaagaag gggcccaaag tcaccgtcaa ggtgtatttt
      181 gacctacgaa ttggagatga agatgtaggc cgggtgatct ttggtctctt cggaaagact
      241 gttccaaaaa cagtggataa ttttgtggcc ttagctacag gagagaaagg atttggctac
      301 aaaaacagca aattccatcg tgtaatcaag gacttcatga tccagggcgg agacttcacc
      361 aggggagatg gcacaggagg aaagagcatc tacggtgagc gcttccccga tgagaacttc
      421 aaactgaagc actacgggcc tggctgggtg agcatggcca acgcaggcaa agacaccaac
      481 ggctcccagt tcttcatcac gacagtcaag acagcctggc tagatggcaa gcatgtggtg
      541 tttggcaaag ttctagaggg catggaggtg gtgcggaagg tggagagcac caagacagac
      601 agccgggata aacccctgaa ggatgtgatc atcgcagact gcggcaagat cgaggtggag
      661 aagccctttg ccatcgccaa ggagtagggc acagggacat ctttctttga gtgaccgtct
      721 gtgcaggccc tgtagtccgc cacagggctc tgagctgcac tggccccggt gctggcatct
      781 ggtggagcgg acccactccc ctcacattcc acaggcccat ggactcactt ttgtaacaaa
      841 ctcctaccaa cactgaccaa taaaaaaaaa tgtgggtttt ttttttttta ata
//
LOCUS       NM_000943               1364 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens peptidylprolyl isomerase C (PPIC), mRNA.
ACCESSION   NM_000943
VERSION     NM_000943.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1364)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1364)
  AUTHORS   Gao YF, Zhu T, Mao CX, Liu ZX, Wang ZB, Mao XY, Li L, Yin JY, Zhou
            HH and Liu ZQ.
  TITLE     PPIC, EMP3 and CHI3L1 Are Novel Prognostic Markers for High Grade
            Glioma
  JOURNAL   Int J Mol Sci 17 (11), 1808 (2016)
   PUBMED   27801851
  REMARK    GeneRIF: Independent validation with glioma patients tissue (n = 70)
            and normal brain tissue (n = 19) found PPIC, EMP3 and CHI3L1 were
            up-regulated in glioma tissue. Survival value validation showed that
            the three genes correlated with patient survival by Kaplan-Meir
            analysis, including grades, age and therapy. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1364)
  AUTHORS   Chapman DC, Stocki P and Williams DB.
  TITLE     Cyclophilin C Participates in the US2-Mediated Degradation of Major
            Histocompatibility Complex Class I Molecules
  JOURNAL   PLoS One 10 (12), e0145458 (2015)
   PUBMED   26691022
  REMARK    GeneRIF: Cyclophilin C participates in cytomegalovirus US2
            protein-mediated degradation of major histocompatibility complex
            class I molecules. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1364)
  AUTHORS   Stocki P, Chapman DC, Beach LA and Williams DB.
  TITLE     Depletion of cyclophilins B and C leads to dysregulation of
            endoplasmic reticulum redox homeostasis
  JOURNAL   J Biol Chem 289 (33), 23086-23096 (2014)
   PUBMED   24990953
  REMARK    GeneRIF: These findings establish cyclophilin C as an ER
            cyclophilin, demonstrate the novel involvement of cyclophilins B and
            C in ER redox homeostasis
REFERENCE   5  (bases 1 to 1364)
  AUTHORS   Davis TL, Walker JR, Campagna-Slater V, Finerty PJ, Paramanathan R,
            Bernstein G, MacKenzie F, Tempel W, Ouyang H, Lee WH, Eisenmesser EZ
            and Dhe-Paganon S.
  TITLE     Structural and biochemical characterization of the human cyclophilin
            family of peptidyl-prolyl isomerases
  JOURNAL   PLoS Biol 8 (7), e1000439 (2010)
   PUBMED   20676357
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1364)
  AUTHORS   Schneider H, Charara N, Schmitz R, Wehrli S, Mikol V, Zurini MG,
            Quesniaux VF and Movva NR.
  TITLE     Human cyclophilin C: primary structure, tissue distribution, and
            determination of binding specificity for cyclosporins
  JOURNAL   Biochemistry 33 (27), 8218-8224 (1994)
   PUBMED   8031755
REFERENCE   7  (bases 1 to 1364)
  AUTHORS   Price ER, Jin M, Lim D, Pati S, Walsh CT and McKeon FD.
  TITLE     Cyclophilin B trafficking through the secretory pathway is altered
            by binding of cyclosporin A
  JOURNAL   Proc Natl Acad Sci U S A 91 (9), 3931-3935 (1994)
   PUBMED   7909608
REFERENCE   8  (bases 1 to 1364)
  AUTHORS   Friedman J, Trahey M and Weissman I.
  TITLE     Cloning and characterization of cyclophilin C-associated protein: a
            candidate natural cellular ligand for cyclophilin C
  JOURNAL   Proc Natl Acad Sci U S A 90 (14), 6815-6819 (1993)
   PUBMED   8341703
REFERENCE   9  (bases 1 to 1364)
  AUTHORS   Sugano S, Kim DW, Yu YS, Mizushima-Sugano J, Yoshitomo K, Watanabe
            S, Suzuki F and Yamaguchi N.
  TITLE     Use of an epitope-tagged cDNA library to isolate cDNAs encoding
            proteins with nuclear localization potential
  JOURNAL   Gene 120 (2), 227-233 (1992)
   PUBMED   1383094
REFERENCE   10  (bases 1 to 1364)
  AUTHORS   Friedman J and Weissman I.
  TITLE     Two cytoplasmic candidates for immunophilin action are revealed by
            affinity for a new cyclophilin: one in the presence and one in the
            absence of CsA
  JOURNAL   Cell 66 (4), 799-806 (1991)
   PUBMED   1652374
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK290321.1, SRR5189655.21337.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2153307
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000306442.5/ ENSP00000303057.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB963241.1, BG721394.1,
            BU075157.1, BX472017.1 and AC022116.5.
            On May 17, 2019 this sequence version replaced NM_000943.4.
            Summary: The protein encoded by this gene is a member of the
            peptidyl-prolyl cis-trans isomerase (PPIase)) family. PPIases
            catalyze the cis-trans isomerization of proline imidic peptide
            bonds in oligopeptides and accelerate the folding of proteins.
            Similar to other PPIases, this protein can bind immunosuppressant
            cyclosporin A. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1364
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.2"
     gene            1..1364
                     /gene="PPIC"
                     /gene_synonym="CYPC"
                     /note="peptidylprolyl isomerase C"
                     /db_xref="GeneID:5480"
                     /db_xref="HGNC:HGNC:9256"
                     /db_xref="MIM:123842"
     CDS             101..739
                     /gene="PPIC"
                     /gene_synonym="CYPC"
                     /EC_number="5.2.1.8"
                     /note="cyclophilin C; peptidyl-prolyl cis-trans isomerase
                     C; PPIase C; rotamase C; parvulin"
                     /codon_start=1
                     /product="peptidyl-prolyl cis-trans isomerase C precursor"
                     /protein_id="NP_000934.1"
                     /db_xref="CCDS:CCDS4133.1"
                     /db_xref="GeneID:5480"
                     /db_xref="HGNC:HGNC:9256"
                     /db_xref="MIM:123842"
                     /translation="MGPGPRLLLPLVLCVGLGALVFSSGAEGFRKRGPSVTAKVFFDVR
                     IGDKDVGRIVIGLFGKVVPKTVENFVALATGEKGYGYKGSKFHRVIKDFMIQGGDITTG
                     DGTGGVSIYGETFPDENFKLKHYGIGWVSMANAGPDTNGSQFFITLTKPTWLDGKHVVF
                     GKVIDGMTVVHSIELQATDGHDRPLTNCSIINSGKIDVKTPFVVEIADW"
     sig_peptide     101..184
                     /gene="PPIC"
                     /gene_synonym="CYPC"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      1212..1217
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPIC"
                     /gene_synonym="CYPC"
                     /note="hexamer: ATTAAA"
     polyA_site      1231
                     /gene="PPIC"
                     /gene_synonym="CYPC"
                     /note="major polyA site"
     regulatory      1284..1289
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPIC"
                     /gene_synonym="CYPC"
                     /note="hexamer: AATACA"
     polyA_site      1305
                     /gene="PPIC"
                     /gene_synonym="CYPC"
ORIGIN
        1 gcaggcgcag ccggccggca gtcccgtcag ctgtcccaga gcctgtgtcg cgcccgtgcc
       61 ggtagcgccc gtgccggtag cgccgctgcc accgctcacc atgggcccgg gtcctcggct
      121 gctgctacct ctcgtgcttt gcgtggggct cggcgcactt gtgttttctt cgggggccga
      181 gggcttccgc aagcgaggcc cctcggtgac ggccaaggtc ttctttgatg tgaggattgg
      241 agacaaagat gttggcagaa ttgtgattgg cctctttgga aaagttgtgc ccaagacagt
      301 ggaaaatttt gttgctctag caacaggaga gaaaggatat ggatataaag gaagcaagtt
      361 tcatcgtgtc atcaaggatt tcatgattca aggaggtgac atcaccactg gagatggcac
      421 tgggggtgtg agcatctatg gtgagacatt tccagatgag aacttcaagc tgaagcacta
      481 tggcattggg tgggtcagca tggccaacgc tgggcctgac accaatggct ctcagttctt
      541 tatcaccttg accaagccca cctggttgga cggcaaacat gtggtgtttg gaaaagtcat
      601 tgatgggatg acagtggtgc actccataga gctccaagca actgatgggc atgaccgtcc
      661 actcaccaac tgctcgatca tcaacagtgg caagatagac gtgaaaacgc cttttgtggt
      721 tgagatcgct gattggtgac acaactggca gaaaacaagg atatgctttg gcaggggtgt
      781 gtgtgtgtgt gtgtgtgtgt gtgtgttgtg ttgtctttca attatttgct tttttttttt
      841 tactttcttt ttgtattcta tcccagatca caggaaagtt ataaaaatca aaccgtcacc
      901 ctttagtttg cttgaacttt agtaaaccac ctgcttaggg actttgaact taaatatatc
      961 cccttcctca agtggtgcta ttttaaaact aaaaaaaact ttgaattggc tattttttta
     1021 atgcaatatt ttttttctga attcattatg atccccatat tgggtaatgc tgaacattta
     1081 tctgaaacag atgaggatat tattattttg tatccaaaca gaaattcaga taaagggaaa
     1141 tttgactagt gtaatctgag atatgtcata gggatttctt tctgacaaaa gggtgctttg
     1201 ctgttcttta tattaaatac ttttagatca actctttttg caagactttt taaaaatgta
     1261 aagttcttta agaaatatac aaaaatacac acactctagc attaacagtg aacagattag
     1321 aaagatttta taaatcaaac tacaaacata attagataac tcag
//
LOCUS       NM_000944               4743 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens protein phosphatase 3 catalytic subunit alpha (PPP3CA),
            transcript variant 1, mRNA.
ACCESSION   NM_000944
VERSION     NM_000944.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4743)
  AUTHORS   Masaki T, Habara M, Shibutani S, Hanaki S, Sato Y, Tomiyasu H and
            Shimada M.
  TITLE     Dephosphorylation of the EGFR protein by calcineurin at serine
            1046/1047 enhances its stability
  JOURNAL   Biochem Biophys Res Commun 641, 84-92 (2023)
   PUBMED   36525928
  REMARK    GeneRIF: Dephosphorylation of the EGFR protein by calcineurin at
            serine 1046/1047 enhances its stability.
REFERENCE   2  (bases 1 to 4743)
  AUTHORS   Wang Z, Li H, Wang H, Li X, Zhang Q, Wang H, Li K and Qiu Y.
  TITLE     TRIM72 exerts antitumor effects in breast cancer and modulates
            lactate production and MCT4 promoter activity by interacting with
            PPP3CA
  JOURNAL   Anticancer Drugs 33 (5), 489-501 (2022)
   PUBMED   35324524
  REMARK    GeneRIF: TRIM72 exerts antitumor effects in breast cancer and
            modulates lactate production and MCT4 promoter activity by
            interacting with PPP3CA.
REFERENCE   3  (bases 1 to 4743)
  AUTHORS   Vymazal O, Bendickova K, De Zuani M, Vlkova M, Hortova-Kohoutkova M
            and Fric J.
  TITLE     Immunosuppression Affects Neutrophil Functions: Does
            Calcineurin-NFAT Signaling Matter?
  JOURNAL   Front Immunol 12, 770515 (2021)
   PUBMED   34795676
  REMARK    GeneRIF: Immunosuppression Affects Neutrophil Functions: Does
            Calcineurin-NFAT Signaling Matter? Review article Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 4743)
  AUTHORS   Masaki T, Habara M, Sato Y, Goshima T, Maeda K, Hanaki S and Shimada
            M.
  TITLE     Calcineurin regulates the stability and activity of estrogen
            receptor alpha
  JOURNAL   Proc Natl Acad Sci U S A 118 (44) (2021)
   PUBMED   34711683
  REMARK    GeneRIF: Calcineurin regulates the stability and activity of
            estrogen receptor alpha.
REFERENCE   5  (bases 1 to 4743)
  AUTHORS   Miyata H, Oura S, Morohoshi A, Shimada K, Mashiko D, Oyama Y, Kaneda
            Y, Matsumura T, Abbasi F and Ikawa M.
  TITLE     SPATA33 localizes calcineurin to the mitochondria and regulates
            sperm motility in mice
  JOURNAL   Proc Natl Acad Sci U S A 118 (35) (2021)
   PUBMED   34446558
REFERENCE   6  (bases 1 to 4743)
  AUTHORS   Giri PR, Higuchi S and Kincaid RL.
  TITLE     Chromosomal mapping of the human genes for the calmodulin-dependent
            protein phosphatase (calcineurin) catalytic subunit
  JOURNAL   Biochem Biophys Res Commun 181 (1), 252-258 (1991)
   PUBMED   1659808
REFERENCE   7  (bases 1 to 4743)
  AUTHORS   Kincaid RL, Giri PR, Higuchi S, Tamura J, Dixon SC, Marietta CA,
            Amorese DA and Martin BM.
  TITLE     Cloning and characterization of molecular isoforms of the catalytic
            subunit of calcineurin using nonisotopic methods
  JOURNAL   J Biol Chem 265 (19), 11312-11319 (1990)
   PUBMED   2162844
REFERENCE   8  (bases 1 to 4743)
  AUTHORS   Guerini D and Klee CB.
  TITLE     Cloning of human calcineurin A: evidence for two isozymes and
            identification of a polyproline structural domain
  JOURNAL   Proc Natl Acad Sci U S A 86 (23), 9183-9187 (1989)
   PUBMED   2556704
REFERENCE   9  (bases 1 to 4743)
  AUTHORS   Kincaid RL, Nightingale MS and Martin BM.
  TITLE     Characterization of a cDNA clone encoding the calmodulin-binding
            domain of mouse brain calcineurin
  JOURNAL   Proc Natl Acad Sci U S A 85 (23), 8983-8987 (1988)
   PUBMED   2848250
REFERENCE   10  (bases 1 to 4743)
  AUTHORS   King,M.M., Huang,C.Y., Chock,P.B., Nairn,A.C., Hemmings,H.C. Jr.,
            Chan,K.F. and Greengard,P.
  TITLE     Mammalian brain phosphoproteins as substrates for calcineurin
  JOURNAL   J Biol Chem 259 (13), 8080-8083 (1984)
   PUBMED   6330098
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AL353950.1, L14778.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000394854.8/ ENSP00000378323.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001816.2, EU192652.1, AL353950.1, AW973358.1 and AP001870.2.
            On Nov 22, 2018 this sequence version replaced NM_000944.4.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4743
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q24"
     gene            1..4743
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="protein phosphatase 3 catalytic subunit alpha"
                     /db_xref="GeneID:5530"
                     /db_xref="HGNC:HGNC:9314"
                     /db_xref="MIM:114105"
     misc_feature    596..598
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="upstream in-frame stop codon"
     CDS             731..2296
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /EC_number="3.1.3.16"
                     /note="isoform 1 is encoded by transcript variant 1;
                     calcineurin A alpha; CAM-PRP catalytic subunit; protein
                     phosphatase 3 catalytic subunit alpha isozyme; CNA alpha"
                     /codon_start=1
                     /product="protein phosphatase 3 catalytic subunit alpha
                     isoform 1"
                     /protein_id="NP_000935.1"
                     /db_xref="CCDS:CCDS34037.1"
                     /db_xref="GeneID:5530"
                     /db_xref="HGNC:HGNC:9314"
                     /db_xref="MIM:114105"
                     /translation="MSEPKAIDPKLSTTDRVVKAVPFPPSHRLTAKEVFDNDGKPRVDI
                     LKAHLMKEGRLEESVALRIITEGASILRQEKNLLDIDAPVTVCGDIHGQFFDLMKLFEV
                     GGSPANTRYLFLGDYVDRGYFSIECVLYLWALKILYPKTLFLLRGNHECRHLTEYFTFK
                     QECKIKYSERVYDACMDAFDCLPLAALMNQQFLCVHGGLSPEINTLDDIRKLDRFKEPP
                     AYGPMCDILWSDPLEDFGNEKTQEHFTHNTVRGCSYFYSYPAVCEFLQHNNLLSILRAH
                     EAQDAGYRMYRKSQTTGFPSLITIFSAPNYLDVYNNKAAVLKYENNVMNIRQFNCSPHP
                     YWLPNFMDVFTWSLPFVGEKVTEMLVNVLNICSDDELGSEEDGFDGATAAARKEVIRNK
                     IRAIGKMARVFSVLREESESVLTLKGLTPTGMLPSGVLSGGKQTLQSATVEAIEADEAI
                     KGFSPQHKITSFEEAKGLDRINERMPPRRDAMPSDANLNSINKALTSETNGTDSNGSNS
                     SNIQ"
     misc_feature    734..736
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q08209.1); acetylation site"
     misc_feature    896..1750
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08209.1);
                     Region: Catalytic. /evidence=ECO:0000305"
     misc_feature    1649..1663
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08209.1);
                     Region: SAPNY motif. /evidence=ECO:0000305|PubMed:26248042"
     misc_feature    1709..1738
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08209.1);
                     Region: Interaction with PxIxIF motif in substrate.
                     /evidence=ECO:0000269|PubMed:17498738,
                     ECO:0000269|PubMed:17502104, ECO:0000269|PubMed:22343722,
                     ECO:0000269|PubMed:23468591, ECO:0000269|PubMed:26248042"
     misc_feature    1751..1837
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08209.1);
                     Region: Calcineurin B binding.
                     /evidence=ECO:0000269|PubMed:12218175,
                     ECO:0000269|PubMed:12357034, ECO:0000269|PubMed:17498738,
                     ECO:0000269|PubMed:23468591, ECO:0000269|PubMed:27974827,
                     ECO:0000269|PubMed:8524402"
     misc_feature    1784..1786
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="Interaction with PxVP motif in substrate.
                     /evidence=ECO:0000269|PubMed:23468591,
                     ECO:0000269|PubMed:27974827; propagated from
                     UniProtKB/Swiss-Prot (Q08209.1); other site"
     misc_feature    1904..1948
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08209.1);
                     Region: Calmodulin-binding.
                     /evidence=ECO:0000269|PubMed:18384083,
                     ECO:0000269|PubMed:19404396, ECO:0000269|PubMed:25144868,
                     ECO:0000269|Ref.34"
     misc_feature    1949..1972
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08209.1);
                     Region: Autoinhibitory segment.
                     /evidence=ECO:0000250|UniProtKB:P16298"
     misc_feature    2123..2191
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08209.1);
                     Region: Autoinhibitory domain.
                     /evidence=ECO:0000269|PubMed:8524402"
     misc_feature    2135..2137
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P63329; propagated from
                     UniProtKB/Swiss-Prot (Q08209.1); phosphorylation site"
     misc_feature    2153..2293
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08209.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2204..2206
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q08209.1); phosphorylation site"
     regulatory      3813..3818
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="hexamer: AATAAA"
     polyA_site      3833
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
     regulatory      4707..4712
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="hexamer: AATAAA"
     regulatory      4721..4726
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="hexamer: ATTAAA"
     polyA_site      4730
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
                     /note="major polyA site"
     polyA_site      4743
                     /gene="PPP3CA"
                     /gene_synonym="ACCIID; CALN; CALNA; CALNA1; CCN1; CNA1;
                     DEE91; IECEE; IECEE1; PPP2B"
ORIGIN
        1 aggttgtgcc cgggactgtg tctgccgagc tcggcggctg tgccttggtg agtggaggag
       61 cggcgcgggg aggcagaggc gagcgcgggc gatcgcggcg gcgggacgtc tccggcggcc
      121 gcggcaccag cggcggcgct ctgtgtggag aagcaggggc agcggcagca gcaacagcgg
      181 cagcggcagc agcagcggca gcagcggcgg ccgcctctcc gccgccgggg acgccaaggt
      241 gcggctggtg gcactgacat cggcggccct gcctctcctc cctcgccccc ggccttcccc
      301 atgtgatcgg tcttaatcct ggccgtgtgt gcgcgcgtgg ggctccattc cgcggtgctg
      361 ggtctccgtg ccggggtggg tgctcgtgtg tgcgcttctc ctccccatcc cccttccccc
      421 aagaataaaa gaagaaccgg gaggcgtgct cagaaaataa ataaataacc accacacacg
      481 cgcagcccgg agcgagtcgg cggggctggc ggcagcggcg gaggaggagt gaaggcggcg
      541 gcggcggagg agggacgcgc ggaaaaggca gcaactttaa agccagctca gagcctagac
      601 ctccagccga gcggtttgca gcgcggcggc ggcggcggcg gcggcggcgt tgagtgtctg
      661 gcccgccggt ccggtcgggg tgtgcagtcg gacggacgag cagcgcgtcg ctgtcctccg
      721 gcagctggag atgtccgagc ccaaggcaat tgatcccaag ttgtcgacga ccgacagggt
      781 ggtgaaagct gttccatttc ctccaagtca ccggcttaca gcaaaagaag tgtttgataa
      841 tgatggaaaa cctcgtgtgg atatcttaaa ggcgcatctt atgaaggagg gaaggctgga
      901 agagagtgtt gcattgagaa taataacaga gggtgcatca attcttcgac aggaaaaaaa
      961 tttgctggat attgatgcgc cagtcactgt ttgtggggac attcatggac aattctttga
     1021 tttgatgaag ctctttgaag tcgggggatc tcctgccaac actcgctacc tcttcttagg
     1081 ggactatgtt gacagagggt acttcagtat tgaatgtgtg ctgtatttgt gggccttgaa
     1141 aattctctac cccaaaacac tgtttttact tcgtggaaat catgaatgta gacatctaac
     1201 agagtatttc acatttaaac aagaatgtaa aataaagtat tcagaacgcg tatatgatgc
     1261 ctgtatggat gcctttgact gccttcccct ggctgccctg atgaaccaac agttcctgtg
     1321 tgtgcatggt ggtttgtctc cagagattaa cactttagat gatatcagaa aattagaccg
     1381 attcaaagaa ccacctgcat atggacctat gtgtgatatc ctgtggtcag accccctgga
     1441 agattttgga aatgagaaga ctcaggaaca tttcactcac aacacagtca gggggtgttc
     1501 atacttctac agttacccgg ctgtatgtga attcttacag cacaataact tgttatctat
     1561 actccgagcc cacgaagccc aagatgcagg gtaccgcatg tacaggaaaa gccaaacaac
     1621 aggcttccct tctctaatta caattttttc agcaccaaat tacttagatg tatacaataa
     1681 caaagctgca gtattgaagt atgagaacaa tgttatgaat atcaggcaat tcaactgttc
     1741 tcctcatcca tactggcttc caaatttcat ggatgttttt acttggtccc ttccatttgt
     1801 tggggaaaaa gtgactgaga tgctggtaaa tgtcctcaac atctgctcag atgatgaact
     1861 agggtcagaa gaagatggat ttgatggtgc aacagctgca gcccggaaag aggtgataag
     1921 gaacaagatc cgagcaatag gcaaaatggc cagagtgttc tcagtgctca gagaagagag
     1981 tgagagtgtg ctgacgctga aaggcttgac cccaactggc atgctcccca gcggagtact
     2041 ttctggaggg aagcaaaccc tgcaaagcgc tactgttgag gctattgagg ctgatgaagc
     2101 tatcaaagga ttttcaccac aacataagat cactagcttc gaggaagcca agggcttaga
     2161 ccgaattaat gagaggatgc cgcctcgcag agatgccatg ccctctgacg ccaaccttaa
     2221 ctccatcaac aaggctctca cctcagagac taacggcacg gacagcaatg gcagtaatag
     2281 cagcaatatt cagtgaccac ttcctgttca cttttttttt tttttttttt tttttttttt
     2341 gagctgcggg gcatgatggg gattgctgca tatcagcagt tggatgttct tgcctctgac
     2401 agtagcttat ttgctctggg ggccaggaat tggattcagt ttacactatc attaaaaaag
     2461 agggagagag ataataaact atattttggt ggggatggtg attaaacacc tcttttgggt
     2521 atgcctttta aaaatgctta tagagaaaaa aaattttaaa aagaaagcta atgctagtat
     2581 atactgcaat gttaggggaa tgaacatgtt ttcctactgc attggggact tctagatagg
     2641 ttaatgaaag gccttttatt ctgttactgg acatgaaaac tttgtctaat ttcttactct
     2701 attgtacgtt tacagtcgca gcactaaaaa tggatgacat caaacatttt taacaaaatg
     2761 atgtacaaac taaggactat ttattgataa tgttttgcta ctcttgtcag acaatggcta
     2821 taaactgaat taggcagtct taaaaaaaaa aaaaaacaga aaaagaaaaa aaagaacgtt
     2881 gcaaatttgt taaaatgcca aaaaggacag tttaattttg tacagattat gcttacctca
     2941 ggtttcttta gtgtgcttga atgcccttct ttccatataa cacttatctt cttcttaatt
     3001 cggcaatgga atatctttta agttttaaaa aaactggaat aattatatct atcttttttg
     3061 ccgtttatat ttaggggttt ttgttgataa aatcaagtct tggttgtggc ttgctgaatt
     3121 aaatatttat gagtggtgca tttttaagta tagtgaacaa gacaccatat taagtacagt
     3181 gataaagcat ctatattctg taaaaaaaaa aaaaatctgc ctatgcatgt tttttaagaa
     3241 aaaaaaaatg gctgtatcgg cctgtatggg actgtaatgc gcttagtggt ctgacatata
     3301 ctggaaatgt atgtatactg gcgtacttta tattctctaa aatgcttaat gcctttgaaa
     3361 ttttgtaatc aaaaaaaagc tttgaaaaaa tctaaagggg agagtattct ttaaagtttt
     3421 taacataagc ttgtcaatgc acatgtagat ggttagcatg tttagcaaac cttgtgaaat
     3481 tataataagt ttgtagttac atgtgaaact ctaaatgcat ggcaactgtt aatgtcataa
     3541 cagtttagtt attttgttct gttctgtcat gtgccacaaa atatgtactt ttttcacttt
     3601 tttccctttg tatatcagtt acgggttaca actggttcat tctgaaaaca acaacaacaa
     3661 aagtccattc atatttttta acaattgtat aagtgcccaa gtaattcact acagcctaaa
     3721 gccttgcctt tgtaatttga cttctgacat gttggcaatc aaagcatgca cttgtaacaa
     3781 tgaaaaagaa aaagcatttt atattactac tcaataaaat gtgcatgaac ttacagaatt
     3841 ctcatccttc cactgagtcc gctgaaggga tttatgtgca caaccaccat gtgtcttcta
     3901 ggtgctggcc caccaccaca catcacaggc tgatttccac aggcttcttc ctaggggcct
     3961 cgtgatctga ggggtggtgc ctacttccac tgtaagaaag aatcttggtg gatttgtgtc
     4021 tcaaatcaga taagagaagc ctgtttaaag agcagatgcc atcttctggc ttcctcaagg
     4081 agccagttaa aaaaccagag cattcctttt tattgaaaaa taaaattaat ttgttatcag
     4141 gttgtttcag ttgtattgga tgccctatct atctgctaaa gcaaaaagta ctaggctact
     4201 aagtgcattt tcatcacaga aaagagttgc atttgtatta acaagaaatt tgtataccca
     4261 cgcttcagct actatctaat catcacccga agatttaaga tacaccaaat ttcagtttgt
     4321 ttgtaacatt gttcatcttt agtgcacttt gttttatata ataaagtatg cctgttatat
     4381 taaataataa gaatatggca attagcgata tagcataccc aaacaaagat gttctcgata
     4441 cagtctggca aagactatcc caaggttatt ttaatgaatt cagacatttt ttcctgtgga
     4501 tatttctcca tcctaaaaaa agtggcaacc aaggaaaata tttagatgca acttactaga
     4561 gtgatgatgt gaaagaaatg gtgattctgg tatcatggtg tttattttct ttcttataac
     4621 tgcagagaaa atatcctgac taaaaaaaat tcattttttt ggattccttt cttttacaaa
     4681 ttgtgctgag gcaactatgg catagaaata aacatttgac attaaaataa gcagttgatg
     4741 tga
//
LOCUS       NM_000945               3024 bp    mRNA    linear   PRI 28-MAR-2023
DEFINITION  Homo sapiens protein phosphatase 3 regulatory subunit B, alpha
            (PPP3R1), mRNA.
ACCESSION   NM_000945
VERSION     NM_000945.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3024)
  AUTHORS   Li M, Gong W, Chen J, Zhang Y, Ma Y and Tu X.
  TITLE     PPP3R1 Promotes MSCs Senescence by Inducing Plasma Membrane
            Depolarization and Increasing Ca2+ Influx
  JOURNAL   Int J Mol Sci 24 (5), 4421 (2023)
   PUBMED   36901851
  REMARK    GeneRIF: PPP3R1 Promotes MSCs Senescence by Inducing Plasma Membrane
            Depolarization and Increasing Ca[2+] Influx. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 3024)
  AUTHORS   Miyata H, Oura S, Morohoshi A, Shimada K, Mashiko D, Oyama Y, Kaneda
            Y, Matsumura T, Abbasi F and Ikawa M.
  TITLE     SPATA33 localizes calcineurin to the mitochondria and regulates
            sperm motility in mice
  JOURNAL   Proc Natl Acad Sci U S A 118 (35) (2021)
   PUBMED   34446558
REFERENCE   3  (bases 1 to 3024)
  AUTHORS   Jinqiang Zhuang MD, Ruijun Yuan MD, Yizeng MD, Congliang Miao MD,
            Dandan Zhou MD, Anli Na MD, Xinying Yang MD, Hui Xu MD and Hong J.
  TITLE     The CnB1 p.D102A variant is linked to dilated cardiomyopathy via
            impaired Calcineurin activity
  JOURNAL   J Mol Cell Cardiol 148, 15-24 (2020)
   PUBMED   32882262
  REMARK    GeneRIF: The CnB1 p.D102A variant is linked to dilated
            cardiomyopathy via impaired Calcineurin activity.
REFERENCE   4  (bases 1 to 3024)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 3024)
  AUTHORS   Lezirovitz K, Vieira-Silva GA, Batissoco AC, Levy D, Kitajima JP,
            Trouillet A, Ouyang E, Zebarjadi N, Sampaio-Silva J, Pedroso-Campos
            V, Nascimento LR, Sonoda CY, Borges VM, Vasconcelos LG, Beck RMO,
            Grasel SS, Jagger DJ, Grillet N, Bento RF, Mingroni-Netto RC and
            Oiticica J.
  TITLE     A rare genomic duplication in 2p14 underlies autosomal dominant
            hearing loss DFNA58
  JOURNAL   Hum Mol Genet 29 (9), 1520-1536 (2020)
   PUBMED   32337552
  REMARK    GeneRIF: A rare genomic duplication in 2p14 underlies autosomal
            dominant hearing loss DFNA58.
REFERENCE   6  (bases 1 to 3024)
  AUTHORS   Loh C, Shaw KT, Carew J, Viola JP, Luo C, Perrino BA and Rao A.
  TITLE     Calcineurin binds the transcription factor NFAT1 and reversibly
            regulates its activity
  JOURNAL   J Biol Chem 271 (18), 10884-10891 (1996)
   PUBMED   8631904
REFERENCE   7  (bases 1 to 3024)
  AUTHORS   Kissinger CR, Parge HE, Knighton DR, Lewis CT, Pelletier LA,
            Tempczyk A, Kalish VJ, Tucker KD, Showalter RE, Moomaw EW et al.
  TITLE     Crystal structures of human calcineurin and the human
            FKBP12-FK506-calcineurin complex
  JOURNAL   Nature 378 (6557), 641-644 (1995)
   PUBMED   8524402
REFERENCE   8  (bases 1 to 3024)
  AUTHORS   Kawamura A and Su MS.
  TITLE     Interaction of FKBP12-FK506 with calcineurin A at the B
            subunit-binding domain
  JOURNAL   J Biol Chem 270 (26), 15463-15466 (1995)
   PUBMED   7541044
REFERENCE   9  (bases 1 to 3024)
  AUTHORS   Guerini D, Krinks MH, Sikela JM, Hahn WE and Klee CB.
  TITLE     Isolation and sequence of a cDNA clone for human calcineurin B, the
            Ca2+-binding subunit of the Ca2+/calmodulin-stimulated protein
            phosphatase
  JOURNAL   DNA 8 (9), 675-682 (1989)
   PUBMED   2558868
REFERENCE   10  (bases 1 to 3024)
  AUTHORS   King,M.M., Huang,C.Y., Chock,P.B., Nairn,A.C., Hemmings,H.C. Jr.,
            Chan,K.F. and Greengard,P.
  TITLE     Mammalian brain phosphoproteins as substrates for calcineurin
  JOURNAL   J Biol Chem 259 (13), 8080-8083 (1984)
   PUBMED   6330098
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC027913.1, SRR18074967.2554985.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000234310.8/ ENSP00000234310.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC017083.7, BM468705.1, BC027913.1 and BQ228635.1.
            On Nov 22, 2018 this sequence version replaced NM_000945.3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3024
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p14"
     gene            1..3024
                     /gene="PPP3R1"
                     /gene_synonym="CALNB1; CNB; CNB1"
                     /note="protein phosphatase 3 regulatory subunit B, alpha"
                     /db_xref="GeneID:5534"
                     /db_xref="HGNC:HGNC:9317"
                     /db_xref="MIM:601302"
     misc_feature    349..351
                     /gene="PPP3R1"
                     /gene_synonym="CALNB1; CNB; CNB1"
                     /note="upstream in-frame stop codon"
     CDS             406..918
                     /gene="PPP3R1"
                     /gene_synonym="CALNB1; CNB; CNB1"
                     /EC_number="3.1.3.16"
                     /note="protein phosphatase 2B regulatory subunit B alpha;
                     calcineurin B, type I (19kDa); protein phosphatase 2B
                     regulatory subunit 1"
                     /codon_start=1
                     /product="calcineurin subunit B type 1"
                     /protein_id="NP_000936.1"
                     /db_xref="CCDS:CCDS46310.1"
                     /db_xref="GeneID:5534"
                     /db_xref="HGNC:HGNC:9317"
                     /db_xref="MIM:601302"
                     /translation="MGNEASYPLEMCSHFDADEIKRLGKRFKKLDLDNSGSLSVEEFMS
                     LPELQQNPLVQRVIDIFDTDGNGEVDFKEFIEGVSQFSVKGDKEQKLRFAFRIYDMDKD
                     GYISNGELFQVLKMMVGNNLKDTQLQQIVDKTIINADKDGDGRISFEEFCAVVGGLDIH
                     KKMVVDV"
     misc_feature    721..723
                     /gene="PPP3R1"
                     /gene_synonym="CALNB1; CNB; CNB1"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q63810; propagated from
                     UniProtKB/Swiss-Prot (P63098.2); phosphorylation site"
     misc_feature    757..759
                     /gene="PPP3R1"
                     /gene_synonym="CALNB1; CNB; CNB1"
                     /note="Interaction with PxVP motif in substrates of the
                     catalytic subunit. /evidence=ECO:0000269|PubMed:23468591;
                     propagated from UniProtKB/Swiss-Prot (P63098.2); other
                     site"
     misc_feature    769..771
                     /gene="PPP3R1"
                     /gene_synonym="CALNB1; CNB; CNB1"
                     /note="Interaction with PxVP motif in substrates of the
                     catalytic subunit. /evidence=ECO:0000269|PubMed:23468591;
                     propagated from UniProtKB/Swiss-Prot (P63098.2); other
                     site"
     misc_feature    796..813
                     /gene="PPP3R1"
                     /gene_synonym="CALNB1; CNB; CNB1"
                     /note="propagated from UniProtKB/Swiss-Prot (P63098.2);
                     Region: Calcineurin A binding.
                     /evidence=ECO:0000269|PubMed:12218175,
                     ECO:0000269|PubMed:12357034, ECO:0000269|PubMed:17498738,
                     ECO:0000269|PubMed:22343722, ECO:0000269|PubMed:23468591,
                     ECO:0000269|PubMed:26794871, ECO:0000269|PubMed:27974827,
                     ECO:0000269|PubMed:8524402"
     regulatory      3005..3010
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP3R1"
                     /gene_synonym="CALNB1; CNB; CNB1"
                     /note="hexamer: AATAAA"
     polyA_site      3024
                     /gene="PPP3R1"
                     /gene_synonym="CALNB1; CNB; CNB1"
                     /note="major polyA site"
ORIGIN
        1 gtgccttgag gttgcgggtc agcgcgagcc gctgcagtga gtccgtcacg gctccggcgc
       61 gagcgcgagg ctgcagcccc cgagtttccc ggccgtcttc gccccctctc cccctccttt
      121 cttcttctct gcctctcctg cctctcgccg ctgctcctcc cgcgctctcc ggctctgaat
      181 ctcgacctta atttatttcc ccctaccctg cccgctccct cgcgtgccca atcgcccggc
      241 cggcgcgggc cccgcggcgc cgcctcccct cccccacgcg cgccccctcc ccgccggcga
      301 cccgagggcc gcagctgggc cgccgccgcc gtttcctgcg agccagcctg agcgcaacac
      361 ttctccgagc cagcgagcca gcgagccgcc gacccgccga gcaaaatggg aaatgaggca
      421 agttatcctt tggaaatgtg ctcacacttt gatgcggatg aaattaaaag gctaggaaag
      481 agatttaaga agcttgattt ggacaattct ggttctttga gtgtggaaga gttcatgtct
      541 ctgcctgagt tacaacagaa tcctttagta cagcgagtaa tagatatatt cgacacagat
      601 gggaatggag aagtagactt taaagaattc attgagggcg tctctcagtt cagtgtcaaa
      661 ggagataagg agcagaaatt gaggtttgct ttccgtatct atgacatgga taaagatggc
      721 tatatttcca atggggaact cttccaggta ttgaagatga tggtggggaa caatctgaaa
      781 gatacacagt tacagcaaat tgtagacaaa accataataa atgcagataa ggatggagat
      841 ggaagaatat cctttgaaga attctgtgct gttgtaggtg gcctagatat ccacaaaaag
      901 atggtggtag atgtgtgact cttatcagag agtaccaccc aacacttttg ctttcttctc
      961 catctctgaa gatctgctca agacgtccag caatgctctc tgtgtattta aatggaagta
     1021 tttttctctg tgaagccaca ttttccaaca tgagcctcat gaagccaact aagtgttatt
     1081 gaactgtaat tctctcaata actcagtgta gcactttaaa gtctgaagga cagcaacatg
     1141 aaaagagcat atcaatgtgg tggagaaagg gaaggggttg gctttttaat ttatttttct
     1201 tcatctttta taacaagaaa gtatctatat atacatatgt aaatatttat atatagatat
     1261 atgtagcttt ctatatatgt agtaggttgg ctttaattta atatacttga ttcagaaaca
     1321 aaacaataga gtacaaaagt gccaagcaga acataaaaca tccttacttt tatttcacac
     1381 agttttatat atagatagaa gactgtacaa tttgagccgg gtgttaggcc agctattttc
     1441 cttttcctgt gctttctcct ttgagagatt gacaaagcat ttgttaacgt cctattattt
     1501 accttaatta catttttgta acaaaggagt ctgtaacttt atttatactt atgaatatat
     1561 ccagggacta cttctcattg ctgagcagct tttaatacac ctctgcttga ggagaaagtc
     1621 tagttcattg ctactgccaa gagctagttc ttgtgttcat atagtaactg cacagggctt
     1681 atagctgctt cattctgcta ctttgtaact aggagccatt gcatttatta aatgtccctc
     1741 agtaacgtta agtgctagtt gtgattttat acataaaggc cagaagctgt ctgaggcaat
     1801 catgattgat tgtatgtatc acttactgaa gaatacctga agtgatcatg taactactta
     1861 taagggatat ccatttgttt gattacatgg gtaaataatt tgtcattaaa cttgtgtttg
     1921 aatcatgaat tcccttgttt caaaagactt gcagctaatc taaaaaactg gtgatattta
     1981 atatgcatgt atgtatctaa acacccacat atatttgtgg tttaagtgtg agaaatcttg
     2041 ctaatctata tgccacagaa gagcaaaatt gtatccaaat ttatgccact taaatttctt
     2101 taccacgagg gatagagcat gcatactggt ttttttttct tgatttgccc atataattgg
     2161 taatggataa cttaataaat ttgtgtgata taaaagtagt gtatcatgtt ctactgtttg
     2221 atcttatccc ttcccatttc tgcaaaggta ctgttagctg gaagaaaaac attttggtta
     2281 gctttgtatg acagtagtct ttccctttat agtttctcta taaaaactgg ttttaaaatc
     2341 agtggaaaag ggcaggttga atcaaggtga atcaatctga aattgagcac acctgcctgc
     2401 catcgctgtt ccttcaactg agtgctgcac atcatgggct ctgtctgtga gagaaaaatc
     2461 ccggtgcttg gtgtccttgc atgacatgga gttttgcatg tagatcaatt taaaatgtac
     2521 ctcttgttta cataatttgc ataattttaa aagataatgt tgccaaactt tggaaatgtt
     2581 aatgttcaga ctgaaaatct ccactacatg taactttctt cctctggatc agtggcatgg
     2641 cttataatcc cagccagtgg tttgaactgt tccagtgtca actgccatgt gctctgcttc
     2701 aagggggaac tagccttttg tgaatttttt gtacataagt atttgttaca aatattttag
     2761 caaatgcttt ctatttctct tgcttgtgca tatcttggct ggcgttacag aaaaatagtg
     2821 taaacattat ttccttaccg gggaatgagg gttttttctt tttctttttt tttttttttt
     2881 tttttagttt gtgtgtgggg gtgggtaagg gaggggatgg tttatgttga atgtttagtt
     2941 tttcttctgc atgatacgtc atgttgtggg atctttagaa aacttcatac tgtatgaata
     3001 agaaaataaa atatttgaaa cttg
//
LOCUS       NM_000946               1423 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens DNA primase subunit 1 (PRIM1), mRNA.
ACCESSION   NM_000946
VERSION     NM_000946.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1423)
  AUTHORS   Schimmel J, Munoz-Subirana N, Kool H, van Schendel R and Tijsterman
            M.
  TITLE     Small tandem DNA duplications result from CST-guided Pol
            alpha-primase action at DNA break termini
  JOURNAL   Nat Commun 12 (1), 4843 (2021)
   PUBMED   34376693
  REMARK    GeneRIF: Small tandem DNA duplications result from CST-guided Pol
            alpha-primase action at DNA break termini. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 1423)
  AUTHORS   Zhang Y, Li L, Liu R and Zeng C.
  TITLE     DNA Primase Subunit 1 Expression in Hepatocellular Carcinoma and Its
            Clinical Implication
  JOURNAL   Biomed Res Int 2020, 9689312 (2020)
   PUBMED   32908930
  REMARK    GeneRIF: DNA Primase Subunit 1 Expression in Hepatocellular
            Carcinoma and Its Clinical Implication. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1423)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1423)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1423)
  AUTHORS   Lee JG, Park KR, An JY, Kang JY, Shen H, Wang J and Eom SH.
  TITLE     Structural and biochemical insights into inhibition of human primase
            by citrate
  JOURNAL   Biochem Biophys Res Commun 507 (1-4), 383-388 (2018)
   PUBMED   30446220
  REMARK    GeneRIF: the structure of human p49at 2.2A resolution with citrate
            in its inactive forms, is reported.
REFERENCE   6  (bases 1 to 1423)
  AUTHORS   Schneider A, Smith RW, Kautz AR, Weisshart K, Grosse F and Nasheuer
            HP.
  TITLE     Primase activity of human DNA polymerase alpha-primase. Divalent
            cations stabilize the enzyme activity of the p48 subunit
  JOURNAL   J Biol Chem 273 (34), 21608-21615 (1998)
   PUBMED   9705292
REFERENCE   7  (bases 1 to 1423)
  AUTHORS   Cloutier S, Hamel H, Champagne M and Yotov WV.
  TITLE     Mapping of the human DNA primase 1 (PRIM1) to chromosome 12q13
  JOURNAL   Genomics 43 (3), 398-401 (1997)
   PUBMED   9268648
REFERENCE   8  (bases 1 to 1423)
  AUTHORS   Shiratori A, Okumura K, Nogami M, Taguchi H, Onozaki T, Inoue T,
            Ando T, Shibata T, Izumi M, Miyazawa H et al.
  TITLE     Assignment of the 49-kDa (PRIM1) and 58-kDa (PRIM2A and PRIM2B)
            subunit genes of the human DNA primase to chromosome bands 1q44 and
            6p11.1-p12
  JOURNAL   Genomics 28 (2), 350-353 (1995)
   PUBMED   8530050
REFERENCE   9  (bases 1 to 1423)
  AUTHORS   Stadlbauer F, Brueckner A, Rehfuess C, Eckerskorn C, Lottspeich F,
            Forster V, Tseng BY and Nasheuer HP.
  TITLE     DNA replication in vitro by recombinant DNA-polymerase-alpha-primase
  JOURNAL   Eur J Biochem 222 (3), 781-793 (1994)
   PUBMED   8026492
REFERENCE   10  (bases 1 to 1423)
  AUTHORS   Wang,T.S., Hu,S.Z. and Korn,D.
  TITLE     DNA primase from KB cells. Characterization of a primase activity
            tightly associated with immunoaffinity-purified DNA polymerase-alpha
  JOURNAL   J Biol Chem 259 (3), 1854-1865 (1984)
   PUBMED   6693436
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK223391.1, X74330.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000338193.11/ ENSP00000350491.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC005266.1 and AA761682.1.
            On Nov 22, 2018 this sequence version replaced NM_000946.2.
            Summary: The replication of DNA in eukaryotic cells is carried out
            by a complex chromosomal replication apparatus, in which DNA
            polymerase alpha and primase are two key enzymatic components.
            Primase, which is a heterodimer of a small subunit and a large
            subunit, synthesizes small RNA primers for the Okazaki fragments
            made during discontinuous DNA replication. The protein encoded by
            this gene is the small, 49 kDa primase subunit. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1423
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..1423
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /note="DNA primase subunit 1"
                     /db_xref="GeneID:5557"
                     /db_xref="HGNC:HGNC:9369"
                     /db_xref="MIM:176635"
     CDS             26..1288
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /EC_number="2.7.7.102"
                     /note="primase p49 subunit; DNA primase subunit 48;
                     primase, DNA, polypeptide 1 (49kDa); DNA primase 1; primase
                     polypeptide 1, 49kDa; DNA primase 49 kDa subunit; primase
                     (DNA) subunit 1"
                     /codon_start=1
                     /product="DNA primase small subunit"
                     /protein_id="NP_000937.1"
                     /db_xref="CCDS:CCDS44926.1"
                     /db_xref="GeneID:5557"
                     /db_xref="HGNC:HGNC:9369"
                     /db_xref="MIM:176635"
                     /translation="METFDPTELPELLKLYYRRLFPYSQYYRWLNYGGVIKNYFQHREF
                     SFTLKDDIYIRYQSFNNQSDLEKEMQKMNPYKIDIGAVYSHRPNQHNTVKLGAFQAQEK
                     ELVFDIDMTDYDDVRRCCSSADICPKCWTLMTMAIRIIDRALKEDFGFKHRLWVYSGRR
                     GVHCWVCDESVRKLSSAVRSGIVEYLSLVKGGQDVKKKVHLSEKIHPFIRKSINIIKKY
                     FEEYALVNQDILENKESWDKILALVPETIHDELQQSFQKSHNSLQRWEHLKKVASRYQN
                     NIKNDKYGPWLEWEIMLQYCFPRLDINVSKGINHLLKSPFSVHPKTGRISVPIDLQKVD
                     QFDPFTVPTISFICRELDAISTNEEEKEENEAESDVKHRTRDYKKTSLAPYVKVFEHFL
                     ENLDKSRKGELLKKSDLQKDF"
     misc_feature    26..28
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (P49642.1); acetylation site"
     misc_feature    386..418
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /note="propagated from UniProtKB/Swiss-Prot (P49642.1);
                     Region: Zinc knuckle motif.
                     /evidence=ECO:0000269|PubMed:24043831,
                     ECO:0000269|PubMed:25550159, ECO:0000269|PubMed:26975377"
     misc_feature    1112..1171
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /note="propagated from UniProtKB/Swiss-Prot (P49642.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1361..1366
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /note="hexamer: AATAAA"
     polyA_site      1381
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /note="major polyA site"
     regulatory      1401..1406
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /note="hexamer: AGTAAA"
     polyA_site      1423
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
ORIGIN
        1 cttaccgtgg cgagttccgc gctcaatgga gacgtttgac cccaccgagc tgcccgagct
       61 gcttaaactt tattaccgga ggctctttcc ctactctcag tactatcgct ggctcaacta
      121 cggtggagtg ataaagaatt actttcaaca ccgtgaattt tcattcacat tgaaagatga
      181 tatttacatt cgctaccaat ccttcaacaa ccagagtgat ctggaaaagg agatgcagaa
      241 aatgaatcca tacaagattg atataggcgc agtatattct cacagaccca atcaacacaa
      301 tacagtgaag ctgggagctt tccaggctca ggaaaaagaa ctggtatttg acattgacat
      361 gacagactat gacgatgtga ggagatgttg tagttctgca gacatatgtc ctaagtgctg
      421 gaccctcatg acaatggcca tacgcatcat tgacagagca ttgaaggagg actttggatt
      481 taagcatcgt ctctgggtat attctggaag gagaggtgtt cattgttggg tctgtgatga
      541 atcagttaga aaactgtctt ctgcagtacg ttctgggata gttgagtatt tgagccttgt
      601 aaagggtggt caagacgtta aaaagaaagt tcacctaagt gaaaaaattc acccttttat
      661 cagaaaatct ataaacataa taaaaaaata ctttgaagaa tatgccttgg ttaatcaaga
      721 tattctcgaa aataaagaaa gctgggataa gattttagcc cttgttcctg aaacaattca
      781 tgatgaactt caacaaagct tccaaaagtc tcacaattca cttcagcgtt gggagcactt
      841 gaagaaagta gccagcagat atcagaataa catcaaaaat gacaaatatg gaccctggct
      901 ggagtgggag attatgctcc agtactgttt tccacggctg gatatcaatg tcagcaaagg
      961 aatcaatcat ctactgaaga gcccttttag tgttcatcct aaaacaggtc gcatatctgt
     1021 gcctattgat ttgcagaaag tggaccagtt tgatccattt actgttccga ccataagctt
     1081 catctgccgt gaattggatg ccatttccac taatgaagag gaaaaagagg agaatgaagc
     1141 tgaatctgat gtcaaacata gaaccagaga ttataagaag accagtctag caccttatgt
     1201 gaaagttttt gaacattttc ttgaaaatct ggataaatcc cgaaaaggag aacttcttaa
     1261 gaagagtgat ttacaaaaag atttctgaag acagagctcc tcaaaccatt gtggatatct
     1321 tctgccttca accacagatc aaatacttca agagccattt aataaatatg gcagaactat
     1381 atatgtgtct taaacctcaa agtaaatttt ccttgagaaa taa
//
LOCUS       NM_000947               2303 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens DNA primase subunit 2 (PRIM2), transcript variant 1,
            mRNA.
ACCESSION   NM_000947
VERSION     NM_000947.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2303)
  AUTHORS   Mu R, Liu H, Luo S, Patz EF Jr, Glass C, Su L, Du M, Christiani DC,
            Jin L and Wei Q.
  TITLE     Genetic variants of CHEK1, PRIM2 and CDK6 in the mitotic
            phase-related pathway are associated with nonsmall cell lung cancer
            survival
  JOURNAL   Int J Cancer 149 (6), 1302-1312 (2021)
   PUBMED   34058013
  REMARK    GeneRIF: Genetic variants of CHEK1, PRIM2 and CDK6 in the mitotic
            phase-related pathway are associated with nonsmall cell lung cancer
            survival.
REFERENCE   2  (bases 1 to 2303)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2303)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2303)
  AUTHORS   Holt ME, Salay LE, O'Brien E, Barton JK and Chazin WJ.
  TITLE     Functional and structural similarity of human DNA primase [4Fe4S]
            cluster domain constructs
  JOURNAL   PLoS One 13 (12), e0209345 (2018)
   PUBMED   30562384
  REMARK    GeneRIF: Study results show that although human DNA primase
            C-terminal domain (p58C) can be stabilized in different
            conformations in the crystalline state, in solution there is
            effectively no difference in the structure and functional properties
            of p58C constructs of different lengths. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 2303)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 2303)
  AUTHORS   Schneider A, Smith RW, Kautz AR, Weisshart K, Grosse F and Nasheuer
            HP.
  TITLE     Primase activity of human DNA polymerase alpha-primase. Divalent
            cations stabilize the enzyme activity of the p48 subunit
  JOURNAL   J Biol Chem 273 (34), 21608-21615 (1998)
   PUBMED   9705292
REFERENCE   7  (bases 1 to 2303)
  AUTHORS   Copeland WC.
  TITLE     Expression, purification, and characterization of the two human
            primase subunits and truncated complexes from Escherichia coli
  JOURNAL   Protein Expr Purif 9 (1), 1-9 (1997)
   PUBMED   9116489
REFERENCE   8  (bases 1 to 2303)
  AUTHORS   Shiratori A, Okumura K, Nogami M, Taguchi H, Onozaki T, Inoue T,
            Ando T, Shibata T, Izumi M, Miyazawa H et al.
  TITLE     Assignment of the 49-kDa (PRIM1) and 58-kDa (PRIM2A and PRIM2B)
            subunit genes of the human DNA primase to chromosome bands 1q44 and
            6p11.1-p12
  JOURNAL   Genomics 28 (2), 350-353 (1995)
   PUBMED   8530050
REFERENCE   9  (bases 1 to 2303)
  AUTHORS   Stadlbauer F, Brueckner A, Rehfuess C, Eckerskorn C, Lottspeich F,
            Forster V, Tseng BY and Nasheuer HP.
  TITLE     DNA replication in vitro by recombinant DNA-polymerase-alpha-primase
  JOURNAL   Eur J Biochem 222 (3), 781-793 (1994)
   PUBMED   8026492
REFERENCE   10  (bases 1 to 2303)
  AUTHORS   Wang,T.S., Hu,S.Z. and Korn,D.
  TITLE     DNA primase from KB cells. Characterization of a primase activity
            tightly associated with immunoaffinity-purified DNA polymerase-alpha
  JOURNAL   J Biol Chem 259 (3), 1854-1865 (1984)
   PUBMED   6693436
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC064931.1, X74331.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000615550.5/ ENSP00000484105.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC017833.1 and BC064931.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000947.4.
            Summary: This gene encodes the 58 kilodalton subunit of DNA
            primase, an enzyme that plays a key role in the replication of DNA.
            The encoded protein forms a heterodimer with a 49 kilodalton
            subunit. This heterodimer functions as a DNA-directed RNA
            polymerase to synthesize small RNA primers that are used to create
            Okazaki fragments on the lagging strand of the DNA. Alternative
            splicing of this gene results in multiple transcript variants. This
            gene has a related pseudogene, which is also present on chromosome
            6. [provided by RefSeq, Apr 2014].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2303
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p11.2"
     gene            1..2303
                     /gene="PRIM2"
                     /gene_synonym="p58; PRIM2A"
                     /note="DNA primase subunit 2"
                     /db_xref="GeneID:5558"
                     /db_xref="HGNC:HGNC:9370"
                     /db_xref="MIM:176636"
     misc_feature    4..6
                     /gene="PRIM2"
                     /gene_synonym="p58; PRIM2A"
                     /note="upstream in-frame stop codon"
     CDS             82..1611
                     /gene="PRIM2"
                     /gene_synonym="p58; PRIM2A"
                     /EC_number="2.7.7.-"
                     /note="isoform a is encoded by transcript variant 1; DNA
                     primase large subunit; DNA primase 58 kDa subunit; primase,
                     DNA, polypeptide 2 (58kDa); primase (DNA) subunit 2"
                     /codon_start=1
                     /product="DNA primase large subunit isoform a"
                     /protein_id="NP_000938.2"
                     /db_xref="CCDS:CCDS75476.1"
                     /db_xref="GeneID:5558"
                     /db_xref="HGNC:HGNC:9370"
                     /db_xref="MIM:176636"
                     /translation="MEFSGRKWRKLRLAGDQRNASYPHCLQFYLQPPSENISLIEFENL
                     AIDRVKLLKSVENLGVSYVKGTEQYQSKLESELRKLKFSYRENLEDEYEPRRRDHISHF
                     ILRLAYCQSEELRRWFIQQEMDLLRFRFSILPKDKIQDFLKDSQLQFEAISDEEKTLRE
                     QEIVASSPSLSGLKLGFESIYKIPFADALDLFRGRKVYLEDGFAYVPLKDIVAIILNEF
                     RAKLSKALALTARSLPAVQSDERLQPLLNHLSHSYTGQDYSTQGNVGKISLDQIDLLST
                     KSFPPCMRQLHKALRENHHLRHGGRMQYGLFLKGIGLTLEQALQFWKQEFIKGKMDPDK
                     FDKGYSYNIRHSFGKEGKRTDYTPFSCLKIILSNPPSQGDYHGCPFRHSDPELLKQKLQ
                     SYKISPGGISQILDLVKGTHYQVACQKYFEMIHNVDDCGFSLNHPNQFFCESQRILNGG
                     KDIKKEPIQPETPQPKPSVQKTKDASSALASLNSSLEMDMEGLEDYFSEDS"
     misc_feature    838..891
                     /gene="PRIM2"
                     /gene_synonym="p58; PRIM2A"
                     /note="propagated from UniProtKB/Swiss-Prot (P49643.2);
                     Region: Interdomain linker.
                     /evidence=ECO:0000269|PubMed:25550159,
                     ECO:0000269|PubMed:26975377"
     misc_feature    877..1608
                     /gene="PRIM2"
                     /gene_synonym="p58; PRIM2A"
                     /note="propagated from UniProtKB/Swiss-Prot (P49643.2);
                     Region: Interacts with PRIM1.
                     /evidence=ECO:0000269|PubMed:17893144"
     misc_feature    979..1407
                     /gene="PRIM2"
                     /gene_synonym="p58; PRIM2A"
                     /note="propagated from UniProtKB/Swiss-Prot (P49643.2);
                     Region: RNA:DNA duplex-binding.
                     /evidence=ECO:0000269|PubMed:26975377"
     misc_feature    1462..1539
                     /gene="PRIM2"
                     /gene_synonym="p58; PRIM2A"
                     /note="propagated from UniProtKB/Swiss-Prot (P49643.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1489..1491
                     /gene="PRIM2"
                     /gene_synonym="p58; PRIM2A"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49643.2); phosphorylation site"
     regulatory      2286..2291
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRIM2"
                     /gene_synonym="p58; PRIM2A"
                     /note="hexamer: AATAAA"
     polyA_site      2303
                     /gene="PRIM2"
                     /gene_synonym="p58; PRIM2A"
                     /note="major polyA site"
ORIGIN
        1 atatgaactc tcccgccacc cgggaacagt ggctgccacc gtttgtgttt tcccgagttt
       61 gaattcttgc aggtgaccaa gatggagttt tctggaagaa agtggaggaa gctgaggttg
      121 gcaggtgacc agaggaatgc ttcctaccct cattgccttc agttttactt gcagccacct
      181 tctgaaaaca tatctttaat agaatttgaa aacttggcta ttgatagagt taaattgtta
      241 aaatcagttg aaaatcttgg agtgagctat gtgaaaggaa ctgaacaata ccagagtaag
      301 ttggagagtg agcttcggaa gctcaagttt tcctacagag aaaacttaga agatgaatat
      361 gaaccacgaa gaagagatca tatttctcat tttattttgc ggcttgctta ttgccagtct
      421 gaagaactta gacgctggtt cattcaacaa gaaatggatc tccttcgatt tagatttagt
      481 attttaccca aggataaaat tcaggatttc ttaaaggata gccaattgca gtttgaggct
      541 ataagtgatg aagagaagac tcttcgagaa caggagattg ttgcctcatc accaagttta
      601 agtggactta agttggggtt cgagtccatt tataagatcc cttttgctga tgctctggat
      661 ttgtttcgag gaaggaaagt ctatttggaa gatggctttg cttacgtacc acttaaggac
      721 attgtggcaa tcatcctgaa tgaatttaga gccaaactgt ccaaggcttt ggcattaaca
      781 gccaggtcct tgcctgctgt gcagtctgat gaaagacttc agcctctgct caatcacctc
      841 agtcattcct acactggcca agattacagt acccagggaa atgttgggaa gatttcttta
      901 gatcagattg atttgctttc taccaaatcc ttcccacctt gcatgcgtca gttacataaa
      961 gccttgcggg aaaatcacca tcttcgtcat ggaggccgaa tgcagtatgg cctatttctg
     1021 aagggcattg gtttaacttt ggaacaggca ttgcagttct ggaagcaaga atttatcaaa
     1081 ggaaagatgg atccagacaa gtttgataaa ggttactctt acaacatccg tcacagcttt
     1141 ggaaaggaag gcaagaggac agactataca cctttcagtt gcctgaagat tattctgtcc
     1201 aatccaccaa gccaagggga ttatcatggg tgcccattcc gtcacagtga tccagagctg
     1261 ctgaagcaaa agttgcagtc atacaagatc tctcctggag ggataagcca gattttggat
     1321 ttagtaaagg ggacacatta ccaggtagcc tgtcaaaaat actttgagat gatacacaat
     1381 gtggatgatt gtggcttttc tttgaatcat cctaatcagt tcttttgtga gagccaacgt
     1441 attctaaatg gtggtaaaga cataaagaag gaacctatcc aaccagaaac tcctcaaccc
     1501 aaaccaagtg tccagaaaac caaggatgca tcatctgctc tggcctcttt aaattcctct
     1561 ctggaaatgg atatggaagg actagaagat tactttagtg aagattctta ggcagtttta
     1621 taaccctttt tcctcaatag cctgtttcct gtttttaaga ttttgccttt gttgttgaaa
     1681 aagggtttca ctctgtcacc aaggcttagt gcagtgacac aattacagct gattgcagcc
     1741 ttgaccttcc cagctcaagt gatcctccta cctcagcctc ccaagtagtt aggaccacag
     1801 gtgtgcacct catatccaga taattttttt caattttttt ttgtagaggt ggggggtctc
     1861 cctatgttgc ccaggcagat ctcagactcc tgggctcaag cgatcctcac acctcagcgt
     1921 cccagagtgc tgggattacg gttgtgagcc actgtgcctg gccttttttt tttttttaac
     1981 ctttttgttt aacttctctc ttcactgcat cccaatccat ctacaggcat gcacacttat
     2041 taggaaagga ggtttgaggt aacaacagag actttcacta tattttgctt tgacagaagg
     2101 aaagaggagg agtttctatt aaaatctgtc acttgagtga tgtcatttaa gtcctatttt
     2161 aggagataaa aacagctttg gggactggtt aaagtccccc agaaactaca ataaagaaca
     2221 acttttgttt taactcttaa tcactttgta attttgactc aatccttttc tggaccattt
     2281 ttgttaataa atatcaaagt gta
//
LOCUS       NM_000948                894 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens prolactin (PRL), transcript variant 1, mRNA.
ACCESSION   NM_000948
VERSION     NM_000948.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 894)
  AUTHORS   Aviv EC, Cardenas SI, Leon G, Waizman YH, Gonzales C, Flores G,
            Martinez-Garcia M and Saxbe DE.
  TITLE     Prenatal prolactin predicts postnatal parenting attitudes and brain
            structure remodeling in first-time fathers
  JOURNAL   Psychoneuroendocrinology 156, 106332 (2023)
   PUBMED   37478587
  REMARK    GeneRIF: Prenatal prolactin predicts postnatal parenting attitudes
            and brain structure remodeling in first-time fathers.
REFERENCE   2  (bases 1 to 894)
  AUTHORS   de Oliveira JM, Dualib PM, Ferraro AA, Carvalho CRS, Mattar R, Dib
            SA and de Almeida-Pititto B.
  TITLE     Prolactin does not seem to mediate the improvement on insulin
            resistance markers and blood glucose levels related to breastfeeding
  JOURNAL   Front Endocrinol (Lausanne) 14, 1219119 (2023)
   PUBMED   37711904
  REMARK    GeneRIF: Prolactin does not seem to mediate the improvement on
            insulin resistance markers and blood glucose levels related to
            breastfeeding. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 894)
  AUTHORS   Spaggiari G, Costantino F, Granata ARM, Tagliavini S, Canu G, Varani
            M, De Santis MC, Roli L, Trenti T, Simoni M and Santi D.
  TITLE     Prolactin and spermatogenesis: new lights on the interplay between
            prolactin and sperm parameters
  JOURNAL   Endocrine 81 (2), 330-339 (2023)
   PUBMED   37140814
  REMARK    GeneRIF: Prolactin and spermatogenesis: new lights on the interplay
            between prolactin and sperm parameters.
REFERENCE   4  (bases 1 to 894)
  AUTHORS   Flores-Espinosa P, Mendez I, Irles C, Olmos-Ortiz A,
            Helguera-Repetto C, Mancilla-Herrera I, Ortuno-Sahagun D, Goffin V
            and Zaga-Clavellina V.
  TITLE     Immunomodulatory role of decidual prolactin on the human fetal
            membranes and placenta
  JOURNAL   Front Immunol 14, 1212736 (2023)
   PUBMED   37359537
  REMARK    GeneRIF: Immunomodulatory role of decidual prolactin on the human
            fetal membranes and placenta. Review article Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 894)
  AUTHORS   Amin M, Wu R, Postolache TT and Gragnoli C.
  TITLE     Novel implication of the prolactin (PRL) gene in the comorbidity of
            type 2 diabetes and depression
  JOURNAL   Eur Rev Med Pharmacol Sci 27 (9), 4080-4084 (2023)
   PUBMED   37203833
  REMARK    GeneRIF: Novel implication of the prolactin (PRL) gene in the
            comorbidity of type 2 diabetes and depression.
REFERENCE   6  (bases 1 to 894)
  AUTHORS   Peers B, Nalda AM, Monget P, Voz ML, Belayew A and Martial JA.
  TITLE     Binding of a 100-kDa ubiquitous factor to the human prolactin
            promoter is required for its basal and hormone-regulated activity
  JOURNAL   Eur J Biochem 210 (1), 53-58 (1992)
   PUBMED   1332868
REFERENCE   7  (bases 1 to 894)
  AUTHORS   Maddox PR, Jones DL and Mansel RE.
  TITLE     Bioactive and immunoactive prolactin levels after TRH-stimulation in
            the sera of normal women
  JOURNAL   Horm Metab Res 24 (4), 181-184 (1992)
   PUBMED   1601394
REFERENCE   8  (bases 1 to 894)
  AUTHORS   Farquhar,M.G., Reid,J.J. and Daniell,L.W.
  TITLE     Intracellular transport and packaging of prolactin: a quantitative
            electron microscope autoradiographic study of mammotrophs
            dissociated from rat pituitaries
  JOURNAL   Endocrinology 102 (1), 296-311 (1978)
   PUBMED   743954
REFERENCE   9  (bases 1 to 894)
  AUTHORS   Shome,B. and Parlow,A.F.
  TITLE     Human pituitary prolactin (hPRL): the entire linear amino acid
            sequence
  JOURNAL   J Clin Endocrinol Metab 45 (5), 1112-1115 (1977)
   PUBMED   925136
REFERENCE   10  (bases 1 to 894)
  AUTHORS   Jacobs,J.W. and Niall,H.D.
  TITLE     High sensitivity automated sequence determination of polypeptides
  JOURNAL   J Biol Chem 250 (10), 3629-3636 (1975)
   PUBMED   1126929
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279860.1893.1, BC015850.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA2149398 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000306482.2/ ENSP00000302150.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC015850.1 and CD106243.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000948.5.
            Summary: This gene encodes the anterior pituitary hormone
            prolactin. This secreted hormone is a growth regulator for many
            tissues, including cells of the immune system. It may also play a
            role in cell survival by suppressing apoptosis, and it is essential
            for lactation. Alternative splicing results in multiple transcript
            variants that encode the same protein. [provided by RefSeq, Aug
            2011].
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..894
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.3"
     gene            1..894
                     /gene="PRL"
                     /gene_synonym="GHA1"
                     /note="prolactin"
                     /db_xref="GeneID:5617"
                     /db_xref="HGNC:HGNC:9445"
                     /db_xref="MIM:176760"
     misc_feature    25..27
                     /gene="PRL"
                     /gene_synonym="GHA1"
                     /note="upstream in-frame stop codon"
     CDS             55..738
                     /gene="PRL"
                     /gene_synonym="GHA1"
                     /note="decidual prolactin; growth hormone A1"
                     /codon_start=1
                     /product="prolactin precursor"
                     /protein_id="NP_000939.1"
                     /db_xref="CCDS:CCDS4548.1"
                     /db_xref="GeneID:5617"
                     /db_xref="HGNC:HGNC:9445"
                     /db_xref="MIM:176760"
                     /translation="MNIKGSPWKGSLLLLLVSNLLLCQSVAPLPICPGGAARCQVTLRD
                     LFDRAVVLSHYIHNLSSEMFSEFDKRYTHGRGFITKAINSCHTSSLATPEDKEQAQQMN
                     QKDFLSLIVSILRSWNEPLYHLVTEVRGMQEAPEAILSKAVEIEEQTKRLLEGMELIVS
                     QVHPETKENEIYPVWSGLPSLQMADEESRLSAYYNLLHCLRRDSHKIDNYLKLLKCRII
                     HNNNC"
     sig_peptide     55..138
                     /gene="PRL"
                     /gene_synonym="GHA1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     139..735
                     /gene="PRL"
                     /gene_synonym="GHA1"
                     /product="Prolactin. /id=PRO_0000032916"
                     /note="propagated from UniProtKB/Swiss-Prot (P01236.1)"
     misc_feature    214..216
                     /gene="PRL"
                     /gene_synonym="GHA1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P01239; propagated from
                     UniProtKB/Swiss-Prot (P01236.1); phosphorylation site"
     misc_feature    229..231
                     /gene="PRL"
                     /gene_synonym="GHA1"
                     /note="N-linked (GlcNAc...) asparagine, partial; propagated
                     from UniProtKB/Swiss-Prot (P01236.1); glycosylation site"
     misc_feature    238..240
                     /gene="PRL"
                     /gene_synonym="GHA1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P01239; propagated from
                     UniProtKB/Swiss-Prot (P01236.1); phosphorylation site"
     misc_feature    406..408
                     /gene="PRL"
                     /gene_synonym="GHA1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P01239; propagated from
                     UniProtKB/Swiss-Prot (P01236.1); phosphorylation site"
     misc_feature    541..543
                     /gene="PRL"
                     /gene_synonym="GHA1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15687336; propagated from
                     UniProtKB/Swiss-Prot (P01236.1); phosphorylation site"
     misc_feature    634..636
                     /gene="PRL"
                     /gene_synonym="GHA1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15687336; propagated from
                     UniProtKB/Swiss-Prot (P01236.1); phosphorylation site"
     regulatory      857..862
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRL"
                     /gene_synonym="GHA1"
                     /note="hexamer: AATAAA"
     polyA_site      894
                     /gene="PRL"
                     /gene_synonym="GHA1"
                     /note="major polyA site"
ORIGIN
        1 gtgagacttc cagatcttct ctggtgaagt gtgtttcctg caacgatcac gaacatgaac
       61 atcaaaggat cgccatggaa agggtccctc ctgctgctgc tggtgtcaaa cctgctcctg
      121 tgccagagcg tggccccctt gcccatctgt cccggcgggg ctgcccgatg ccaggtgacc
      181 cttcgagacc tgtttgaccg cgccgtcgtc ctgtcccact acatccataa cctctcctca
      241 gaaatgttca gcgaattcga taaacggtat acccatggcc gggggttcat taccaaggcc
      301 atcaacagct gccacacttc ttcccttgcc acccccgaag acaaggagca agcccaacag
      361 atgaatcaaa aagactttct gagcctgata gtcagcatat tgcgatcctg gaatgagcct
      421 ctgtatcatc tggtcacgga agtacgtggt atgcaagaag ccccggaggc tatcctatcc
      481 aaagctgtag agattgagga gcaaaccaaa cggcttctag agggcatgga gctgatagtc
      541 agccaggttc atcctgaaac caaagaaaat gagatctacc ctgtctggtc gggacttcca
      601 tccctgcaga tggctgatga agagtctcgc ctttctgctt attataacct gctccactgc
      661 ctacgcaggg attcacataa aatcgacaat tatctcaagc tcctgaagtg ccgaatcatc
      721 cacaacaaca actgctaagc ccacatccat ttcatctatt tctgagaagg tccttaatga
      781 tccgttccat tgcaagcttc ttttagttgt atctcttttg aatccatgct tgggtgtaac
      841 aggtctcctc ttaaaaaata aaaactgact ccttagagac atcaaaatct aaaa
//
LOCUS       NM_000949              11581 bp    mRNA    linear   PRI 26-JUN-2023
DEFINITION  Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.
ACCESSION   NM_000949
VERSION     NM_000949.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 11581)
  AUTHORS   de Castro Moreira AR, Trarbach E, Bueno CBF, Monteiro ALS, Grande
            IPP, Padula M, Maciel GAR and Glezer A.
  TITLE     PRL-R Variants Are Not Only Associated With Prolactinomas But Also
            With Dopamine Agonist Resistance
  JOURNAL   J Clin Endocrinol Metab 108 (7), e450-e457 (2023)
   PUBMED   36638053
  REMARK    GeneRIF: PRL-R Variants Are Not Only Associated With Prolactinomas
            But Also With Dopamine Agonist Resistance.
REFERENCE   2  (bases 1 to 11581)
  AUTHORS   Araya-Secchi R, Bugge K, Seiffert P, Petry A, Haxholm GW,
            Lindorff-Larsen K, Pedersen SF, Arleth L and Kragelund BB.
  TITLE     The prolactin receptor scaffolds Janus kinase 2 via co-structure
            formation with phosphoinositide-4,5-bisphosphate
  JOURNAL   Elife 12, e84645 (2023)
   PUBMED   37232489
  REMARK    GeneRIF: The prolactin receptor scaffolds Janus kinase 2 via
            co-structure formation with phosphoinositide-4,5-bisphosphate.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 11581)
  AUTHORS   Kavarthapu R and Dufau ML.
  TITLE     Prolactin receptor gene transcriptional control, regulatory
            modalities relevant to breast cancer resistance and invasiveness
  JOURNAL   Front Endocrinol (Lausanne) 13, 949396 (2022)
   PUBMED   36187116
  REMARK    GeneRIF: Prolactin receptor gene transcriptional control, regulatory
            modalities relevant to breast cancer resistance and invasiveness.
            Review article Publication Status: Online-Only
REFERENCE   4  (bases 1 to 11581)
  AUTHORS   Begon E and Bernard V.
  TITLE     [Prolactin and its receptor: From animal models to pituitary
            pathophysiology]
  JOURNAL   Biol Aujourdhui 216 (3-4), 105-110 (2022)
   PUBMED   36744975
  REMARK    GeneRIF: [Prolactin and its receptor: From animal models to
            pituitary pathophysiology].
REFERENCE   5  (bases 1 to 11581)
  AUTHORS   Trott JF, Hovey RC, Koduri S and Vonderhaar BK.
  TITLE     Alternative splicing to exon 11 of human prolactin receptor gene
            results in multiple isoforms including a secreted prolactin-binding
            protein
  JOURNAL   J Mol Endocrinol 30 (1), 31-47 (2003)
   PUBMED   12580759
REFERENCE   6  (bases 1 to 11581)
  AUTHORS   Kline JB, Rycyzyn MA and Clevenger CV.
  TITLE     Characterization of a novel and functional human prolactin receptor
            isoform (deltaS1PRLr) containing only one extracellular
            fibronectin-like domain
  JOURNAL   Mol Endocrinol 16 (10), 2310-2322 (2002)
   PUBMED   12351696
  REMARK    GeneRIF: Given its apparent widespread expression, this PRLr isoform
            may contribute to PRL action.
REFERENCE   7  (bases 1 to 11581)
  AUTHORS   Kline JB, Roehrs H and Clevenger CV.
  TITLE     Functional characterization of the intermediate isoform of the human
            prolactin receptor
  JOURNAL   J Biol Chem 274 (50), 35461-35468 (1999)
   PUBMED   10585417
REFERENCE   8  (bases 1 to 11581)
  AUTHORS   Rozakis-Adcock M and Kelly PA.
  TITLE     Identification of ligand binding determinants of the prolactin
            receptor
  JOURNAL   J Biol Chem 267 (11), 7428-7433 (1992)
   PUBMED   1559983
REFERENCE   9  (bases 1 to 11581)
  AUTHORS   Di Carlo R, Muccioli G, Papotti M and Bussolati G.
  TITLE     Characterization of prolactin receptor in human brain and choroid
            plexus
  JOURNAL   Brain Res 570 (1-2), 341-346 (1992)
   PUBMED   1617425
REFERENCE   10  (bases 1 to 11581)
  AUTHORS   Arden KC, Boutin JM, Djiane J, Kelly PA and Cavenee WK.
  TITLE     The receptors for prolactin and growth hormone are localized in the
            same region of human chromosome 5
  JOURNAL   Cytogenet Cell Genet 53 (2-3), 161-165 (1990)
   PUBMED   2369845
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC059392.1, M31661.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000618457.5/ ENSP00000482954.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP357907.1, AK313270.1,
            AC010368.4, KF573643.1 and AI079645.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000949.6.
            Summary: This gene encodes a receptor for the anterior pituitary
            hormone, prolactin, and belongs to the type I cytokine receptor
            family. Prolactin-dependent signaling occurs as the result of
            ligand-induced dimerization of the prolactin receptor. Several
            alternatively spliced transcript variants encoding different
            membrane-bound and soluble isoforms have been described for this
            gene, which may function to modulate the endocrine and autocrine
            effects of prolactin in normal tissue and cancer. [provided by
            RefSeq, Feb 2011].
            Transcript Variant: This variant (1) represents the longest
            transcript, and encodes the longest isoform (1, also known as long
            form).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..11581
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     gene            1..11581
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /note="prolactin receptor"
                     /db_xref="GeneID:5618"
                     /db_xref="HGNC:HGNC:9446"
                     /db_xref="MIM:176761"
     misc_feature    278..280
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /note="upstream in-frame stop codon"
     CDS             326..2194
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; hPRL receptor; secreted prolactin binding protein"
                     /codon_start=1
                     /product="prolactin receptor isoform 1 precursor"
                     /protein_id="NP_000940.1"
                     /db_xref="CCDS:CCDS3909.1"
                     /db_xref="GeneID:5618"
                     /db_xref="HGNC:HGNC:9446"
                     /db_xref="MIM:176761"
                     /translation="MKENVASATVFTLLLFLNTCLLNGQLPPGKPEIFKCRSPNKETFT
                     CWWRPGTDGGLPTNYSLTYHREGETLMHECPDYITGGPNSCHFGKQYTSMWRTYIMMVN
                     ATNQMGSSFSDELYVDVTYIVQPDPPLELAVEVKQPEDRKPYLWIKWSPPTLIDLKTGW
                     FTLLYEIRLKPEKAAEWEIHFAGQQTEFKILSLHPGQKYLVQVRCKPDHGYWSAWSPAT
                     FIQIPSDFTMNDTTVWISVAVLSAVICLIIVWAVALKGYSMVTCIFPPVPGPKIKGFDA
                     HLLEKGKSEELLSALGCQDFPPTSDYEDLLVEYLEVDDSEDQHLMSVHSKEHPSQGMKP
                     TYLDPDTDSGRGSCDSPSLLSEKCEEPQANPSTFYDPEVIEKPENPETTHTWDPQCISM
                     EGKIPYFHAGGSKCSTWPLPQPSQHNPRSSYHNITDVCELAVGPAGAPATLLNEAGKDA
                     LKSSQTIKSREEGKATQQREVESFHSETDQDTPWLLPQEKTPFGSAKPLDYVEIHKVNK
                     DGALSLLPKQRENSGKPKKPGTPENNKEYAKVSGVMDNNILVLVPDPHAKNVACFEESA
                     KEAPPSLEQNQAEKALANFTATSSKCRLQLGGLDYLDPACFTHSFH"
     sig_peptide     326..397
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     398..2191
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /product="Prolactin receptor. /id=PRO_0000010977"
                     /note="propagated from UniProtKB/Swiss-Prot (P16471.1)"
     misc_feature    500..502
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16471.1); glycosylation site"
     misc_feature    635..637
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16471.1); glycosylation site"
     misc_feature    968..982
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /note="propagated from UniProtKB/Swiss-Prot (P16471.1);
                     Region: WSXWS motif"
     misc_feature    1022..1024
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16471.1); glycosylation site"
     misc_feature    1028..1099
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /note="propagated from UniProtKB/Swiss-Prot (P16471.1);
                     transmembrane region"
     misc_feature    1124..1150
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /note="propagated from UniProtKB/Swiss-Prot (P16471.1);
                     Region: Box 1 motif"
     misc_feature    1301..1459
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /note="propagated from UniProtKB/Swiss-Prot (P16471.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1706..1840
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /note="propagated from UniProtKB/Swiss-Prot (P16471.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1883..1960
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /note="propagated from UniProtKB/Swiss-Prot (P16471.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      11403..11408
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /note="hexamer: ATTACA"
     polyA_site      11421
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /note="major polyA site"
     regulatory      11561..11566
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /note="hexamer: AATAAA"
     polyA_site      11581
                     /gene="PRLR"
                     /gene_synonym="HPRL; hPRLrI; MFAB; RI-PRLR"
                     /note="major polyA site"
ORIGIN
        1 gcttcttctc acagagccac cgggctgggg accggggagc ggaggctgaa atccccagac
       61 gccggttttc tgggctgggc tttctgcctt actcactcct tctccctctt tctggatttt
      121 accgaccgtt cgcgaaacag ctttccacac aatggagctt catgtcctcg tgcaggaagt
      181 actcatcgac tgatgtggca gactttgctc cctggcaaaa ctaaagaact ctcctattca
      241 tggaggcgaa cactgaggat gctttccaca tgaaccctga agtgaacttc tgatacattt
      301 cctgcagcaa gagaaggcag ccaacatgaa ggaaaatgtg gcatctgcaa ccgttttcac
      361 tctgctactt tttctcaaca cctgccttct gaatggacag ttacctcctg gaaaacctga
      421 gatctttaaa tgtcgttctc ccaataagga aacattcacc tgctggtgga ggcctgggac
      481 agatggagga cttcctacca attattcact gacttaccac agggaaggag agacactcat
      541 gcatgaatgt ccagactaca taaccggtgg ccccaactcc tgccactttg gcaagcagta
      601 cacctccatg tggaggacat acatcatgat ggtcaatgcc actaaccaga tgggaagcag
      661 tttctcggat gaactttatg tggacgtgac ttacatagtt cagccagacc ctcctttgga
      721 gctggctgtg gaagtaaaac agccagaaga cagaaaaccc tacctgtgga ttaaatggtc
      781 tccacctacc ctgattgact taaaaactgg ttggttcacg ctcctgtatg aaattcgatt
      841 aaaacccgag aaagcagctg agtgggagat ccattttgct gggcagcaaa cagagtttaa
      901 gattctcagc ctacatccag gacagaaata ccttgtccag gttcgctgca aaccagacca
      961 tggatactgg agtgcatgga gtccagcgac cttcattcag atacctagtg acttcaccat
     1021 gaatgataca accgtgtgga tctctgtggc tgtcctttct gctgtcatct gtttgattat
     1081 tgtctgggca gtggctttga agggctatag catggtgacc tgcatctttc cgccagttcc
     1141 tgggccaaaa ataaaaggat ttgatgctca tctgttggag aagggcaagt ctgaagaact
     1201 actgagtgcc ttgggatgcc aagactttcc tcccacttct gactatgagg acttgctggt
     1261 ggagtattta gaagtagatg atagtgagga ccagcatcta atgtcagtcc attcaaaaga
     1321 acacccaagt caaggtatga aacccacata cctggatcct gacactgact caggccgggg
     1381 gagctgtgac agcccttccc ttttgtctga aaagtgtgag gaaccccagg ccaatccctc
     1441 cacattctat gatcctgagg tcattgagaa gccagagaat cctgaaacaa cccacacctg
     1501 ggacccccag tgcataagca tggaaggcaa aatcccctat tttcatgctg gtggatccaa
     1561 atgttcaaca tggcccttac cacagcccag ccagcacaac cccagatcct cttaccacaa
     1621 tattactgat gtgtgtgagc tggctgtggg ccctgcaggt gcaccggcca ctctgttgaa
     1681 tgaagcaggt aaagatgctt taaaatcctc tcaaaccatt aagtctagag aagagggaaa
     1741 ggcaacccag cagagggagg tagaaagctt ccattctgag actgaccagg atacgccctg
     1801 gctgctgccc caggagaaaa ccccctttgg ctccgctaaa cccttggatt atgtggagat
     1861 tcacaaggtc aacaaagatg gtgcattatc attgctacca aaacagagag agaacagcgg
     1921 caagcccaag aagcccggga ctcctgagaa caataaggag tatgccaagg tgtccggggt
     1981 catggataac aacatcctgg tgttggtgcc agatccacat gctaaaaacg tggcttgctt
     2041 tgaagaatca gccaaagagg ccccaccatc acttgaacag aatcaagctg agaaagccct
     2101 ggccaacttc actgcaacat caagcaagtg caggctccag ctgggtggtt tggattacct
     2161 ggatcccgca tgttttacac actcctttca ctgatagctt gactaatgga atgattggtt
     2221 aaaatgtgat ttttcttcag gtaacactac agagtacgtg aaatgctcaa gaatgtagtc
     2281 agactgacac tactaaagct cccagctcct ttcatgctcc atttttaacc acttgcctct
     2341 ttctccagca gctgattcca gaacaaatca ttatgtttcc taactgtgat ttgtagattt
     2401 actttttgct gttagttata aaactatgtg ttcaatgaaa taaaagcaca ctgcttagta
     2461 ttcttgaggg acaatgccaa taggtatatc ctctggaaaa ggctttcatg atttggcatg
     2521 ggacagacgg aaatgaaatt gtcaaaattg tttaccatag aaagatgaca aaagaaaatt
     2581 ttccacatag gaaaatgcca tgaaaattgc ttttgaaaaa caactgcata acctttacac
     2641 tcctcgtcca ttttattagg attacccaaa tataaccatt taaagaaaga atgcattcca
     2701 gaacaaattg tttacataag ttcctatacc ttactgacac attgctgata tgcaagtaag
     2761 aaataatgcc tccaattttt tcttaaaata gtttagatat gttaagcatg gattttcccc
     2821 ctaaattcta ctctaaagct tctataaaat atagtttgga aataaaaatg ttcttacaca
     2881 aggggcaaat gaatttcatg tgaatccctt taggatgttt tcctccttca tttcagcatg
     2941 atagataatt tattatacac cttagtcttt ccttagttaa aaaaaaattc cctaaagact
     3001 aacttgaaaa gaaaaccaca gcaggatgct aatggaatta ctgccttact gtacatacaa
     3061 attctacttt aatataaacc cataagttta actgtatttt tgaagactat ttttctatga
     3121 cttaggtaaa ataaaagact attttctatt ttcccagtac agctgtttat gtattcagtg
     3181 ggtacagtat tttctgctgc aaggttataa tgtgtattta cagtacatag tagtatataa
     3241 agttcccgtt tgtggagtaa aatgccatac caacccaaag cccactgtga aatatgaagt
     3301 gaatgacaaa attcagtttt caacgcaata tagtatagtt tatctgattc ttttgatctc
     3361 caggacactt taaacaactg ctaccaccac caccaaccta gggatttagg attctccaca
     3421 gaccagaaat tatttctcct ttgagtttca ggctcctctg ggactcctgt tcatcaatgg
     3481 gtgaatcttc ctaaagctac cataaaaagg gagggcgacg atttctaaca gctgtttaaa
     3541 agagagaggt tttgcttttg tgagaaatct tgggccacaa aaaaatttta agcaaagcca
     3601 ggagttagtg tctctctgaa gtaaattcaa ttgcaaaatc ttggcagagg cagaaatggc
     3661 tcatatcaga agtgtccaaa taaaagttct gggaaactag gtatttgctt cccagagcaa
     3721 tgggaatagc tccaaaggtc agagtaaggt aatgagaatc tcccggtcaa ttccagtgcc
     3781 aggcttcctg aaagaagtca aagcttggat cctcatttta aagggcgcat ccatgactca
     3841 tctagcagcc cctctctatt tttcccttca cttgatggta aatccattct atatgtccat
     3901 ttactagctg gacatagaga acttgagctc acctctggga gttaaatatt ccaccccaac
     3961 tatcccatat tgatagcaac tggactcaga ggtccccctc ctgtttgaaa gtgaacacat
     4021 tgccaatgtt ttgagaatgg caaaagcaat agatacgaag ctccattttt ctaatatata
     4081 aacaatatca tgtgagtaag ggaagcgtgt gggaaagttg tccaagctca ttcagtcccc
     4141 taaatcctcg atactttaac tgtctgagaa ccaactgcat aggcatcacc tgggcagtgt
     4201 ttgaaaattc catttgcaga atcttaagca tcagaatctg cattttacta agatccccaa
     4261 atgattcaat tgcacactga agtttgagaa gcattgttct agacaaccat ttccactaaa
     4321 ggttatttta gttcatagta acaatcctct tttggaaagg acagatcaag tctgtttgac
     4381 ttgcaatgaa caacactgca tgtaagcagg caaaaaaaga aacatatcag tagtttaaga
     4441 ttcacattat gctgaatctt atatgaattc acataaaaga atgacctgca aaactacgca
     4501 caacttctga aaggccaagg aatataatct accttgagag acattaacca aagacagtca
     4561 ccctcaaagc caatgcagac taaatctttc ctaacatagt ctattctcta agaatagaga
     4621 agatatgtat cagtcactct tatagtctga aaacctaaac ataaaagtaa tctgcttttg
     4681 acatataatt ttgtataata cgtatgaaaa aatgtgacag ctaaggactt gaattaaatc
     4741 cctaaaaaac aattagccac tcattaggcc aagactttaa ttctatgatc aattagcact
     4801 gtttatctga attaagcttt tttgtggtct aacaaaaagt ttttttgtgg tctatcaagg
     4861 agacagctgt tcaaatggaa ggatacatgt ggggcagggg ggcggtgaag agacctagat
     4921 tctggtccta actgctttgc cttggagaga ttaattcccc cctctaagcc tcagtttcct
     4981 ctgaagatgt tggaccagat aacctctaag gtcctttgaa actgactcct tgattccatg
     5041 actcactgaa tatttttctg caaagataat cccaaccaat gccttctatc ctaatctaac
     5101 aaaaaattgc tcttcatcat agaaatacaa agtaatcttc agtgatgtgc tctttatact
     5161 ttgcttttta aaccgtccat tccagttggt cttaatatat tgcacaagta ttttataagt
     5221 gaaatgtgta cagaatcata ttctaagatt atgtgcaaat atatgtgtag aaagaggcat
     5281 ttaaaaaaag aggcaggaga ttgagaagag acatattgaa tgaggcacta atctttagaa
     5341 aaatgatctt ttactgaatc aagccatgct cattccttgc tgaatccaac agccccaaat
     5401 ctcttttctt atatttggct gttaattttt ttccttgcac catcctagat tgttaacaac
     5461 cattgcacag ttggctcatg tatccttaca ctctgagtta taataagttg tatttttata
     5521 aacaaatacc taaatattca agttttaagg cgcatggaaa ctgaatctag gcaacgggtg
     5581 atttgtgtag cttacaacct gaacagcaag atgttccaat tcattctaac agatgtgtat
     5641 aagcacaagt tatatcagct gtgtcagata tttaacagat cctacattta ttagctatat
     5701 aacagactct acattttcct aagtgcctaa gaccaatcct ggtagtcact taagtacaaa
     5761 agactcactt taactggctt ggtctgaagg ggtcaatcct ttactgcctg tacaagatct
     5821 gggcagtttt gctctgtgtc ttgtgatgac ccagctgaat gtgaaaagcc tatgagttat
     5881 tgagcaacca gaggtccctg cattccaagt tgcagtttag ctctggggaa actctggctt
     5941 tctctttcct caagtgtcca ccactgccca tcatttgcag aaagacttgg ccctgccttt
     6001 agcaacttcc ctatctcctt agagtagaca agaaagaaac agatttgtgc acattttaca
     6061 aagtgccttc ctctattttt ttttaaagtt ttcattttgc aaggaaaaat gtattgatta
     6121 gaaagtaaca tttgccttat agggattata tatatatata gatatagata tagatatgta
     6181 tgaatggaga gatgagaaga agccagaaag ggcacaacaa aatggtctaa gggccaacca
     6241 gcaatgttca gtgaatgttt acgtattgtt taattgaatc aacacagagc tgttgtgaat
     6301 agtgtgactt actttgcctg ataagaaatt gaggctggct gtgatttggg gataaacctg
     6361 ccaccctgtg atttgagact ctccatacca aaacttattg atacattttt gaatgtcatt
     6421 ggcttacatg cctaaacctg aagagaacaa tgcatgcaca ttggaacttt gtacacaaac
     6481 agaaaaatat aaatgacttt gaattaccat cccaagcatt gctaacgtag atgtgccatt
     6541 gacgaaagtc tcatgtgttc ttgagtgaac aaatttcctt ttcttccttt ttggctcaag
     6601 cacaataatg ctgtcactga gacagtgact gagcactcaa tgtccaagac taaatcacat
     6661 caccacgact aagtaggcac tatgtcctgg gatgagtctt ttaaactctg gccatcaggt
     6721 tccttacttg ttaaataagt aggttggcct aaaaggtttc taagacctct catgatctag
     6781 gtaaaatcca gggtttcagg tcagtgtccc tggtgcagtg caagaaagcc ttgctgacac
     6841 acccttggcc tgaagcagtg agcacatgag attgtgtgac aacgcttcag agaaaaacag
     6901 agatctgttc ctccaactca gattgattta acatccttgc ttctcctttt ccttcctggc
     6961 tttacatatt tgtagggttt ttactccttc tccagagcct actattttcc taagagttag
     7021 tagcaaccat aggatccaca agaaatgaaa ttattcatca acaatgactt tggcactgca
     7081 aaagactgag tcaaaggtta aatcagtcac acagatatcc aaggccaagt tgaagatcac
     7141 aagtatatcc catttagaga tttgcatact tagagattaa gcccatgttc attaattatt
     7201 tagttaattc aaaagccatt aataaatcca tgcccagcct acgcaacata gtaagaccca
     7261 gtctctacaa aaattttaaa aattagccag ccatggtgac acgtacctgt agtcctagac
     7321 acttgggaag gtgaagccag aggattgctt gagcccagga ggtcgaggct gcagtgaacc
     7381 gtgattgtgt cactgcactc cagcctgggt gagagagcaa gaccttgtct caataaataa
     7441 acccaagtta cttcgatgac tagatactgg aggtctgaag gagaagcttt aaaaatacag
     7501 attgattgct tcagagaaat cctatttata attatgatct gaacttattc tatgattagc
     7561 aaatatatca tctgaaaata aaacaggagt tctctcccca gacttttgtt tttcaggatg
     7621 gtgagttttg gtctgggacc ctcatggcac ccattttgat aaaaggaaaa agatagtaaa
     7681 acaggaaata ggaagtttcc agagatttgg gcatctcagg attccatgaa atgctgagac
     7741 taacccacta aatccaaatt ttattggcta tggtaaatct aaatctgttc agtgttctga
     7801 acagatttta tgagtttatg tctaagagtt tatgtctaag agaggtacat aattcacaaa
     7861 cactatcatg ctggcagctg ttttgtccac atcaattccc ttgatttaat gctctgattt
     7921 caatttagaa agtactgaga catgtaaagt ctcaaaatag gaaaaaccta tcctgtttat
     7981 aaggtgtggt caataaatag accacagata atcttagtct attaattaac tctcagatca
     8041 tcttagacta ttaattaaca ttctgcttgc tgctgattaa aaagaaaaaa accctaaaac
     8101 cttcagcaac tgaagtagta atataaaaaa taacctttaa tagttatggt caaattacgc
     8161 ttcacttgga taaacctcaa aatgtagtct gagttttttt gtgcacactt cacaaatcct
     8221 gggggaaaaa tcttttttcc acgttatctg aaaaactata tggcgaagat accgctgaaa
     8281 aataatttgt tttatgaaat tcctgaaaag ctaattttga attttttaaa gtaactacct
     8341 cccttttgtg tcctaatgtc cttccttcaa agctgcttat agtttagaaa tgaaagatgt
     8401 catgtctcat gctttgactg gttttcggtg gcatatttga tgtatttgcc aagtggcatt
     8461 actgacttta cagtaactgt tacattattt tgtactatat tgctttatgt ggttcaaaaa
     8521 tagtatatgc catattgaaa tatgtaatcc tcatgttgtg aaactcatca tgtaatacaa
     8581 atgaaaatca ttacttaata acttacaatt tatccatatg tagtttcaat atgattgtgt
     8641 ctatgactgt aaaacaaaac tgaaaaaata tgtaatgtat ttctgttgaa agcgtgaatg
     8701 tactaatttt ttcctaatct ttgtctagaa gaaagattct atgtcattca ttgtacagct
     8761 gctctggggt gttacacatt taaagtacaa tccaacagtt gtttgaaagt cagcctctcg
     8821 gctttgtttc atgtgactgc tgacacttct caagtgttct ttgcataatg aggctggatt
     8881 ttgtgcttca tcgttcattt taaacaattg aaaagtctca tgtggaaacc aaagcaatct
     8941 agaaccagcc tgttgggtga ctgtgtcttc tgtaaagcca tattgaagtg aagttataca
     9001 taatagcata aggttccaca ttttcaaagc taccactacc tctgcttttc ctctttccct
     9061 agaaaatgcc aagcaaaatt ccccaacact aagtgagaaa ttagaagtaa ttgttttata
     9121 attaagttgc tgggtttttt ttttaacacc ttctaattca tcactttgta gggttatgca
     9181 agagtttctg aataaccatt cttacatgtt tatattttat aaaaaccggc tgcaagaaag
     9241 attcagaaag aatacttagt aagtcatcat atgaaaaacc aacaaaacca tagagtgcag
     9301 attttttcct aactataagt cacctcatag ttgtccaaag ccatgataat gatatctctt
     9361 acaaattgac ttctgtaacc cccctagaaa taaccctttt ccttatttga ttttagtcat
     9421 caaacatagt atgatatggg aaaagtcagc catttaccag aaattatctt attttgattt
     9481 taaaaactca tttctatatg tagttattgt aatgtctatt tttttagact taaagattta
     9541 tagaagacta tagttatctg atttgttatt ttgcattttt cattctgtaa atctttgctt
     9601 atggcacatt gtgctctctg ttttccatgg ttttattcat ttatctcctc ctattttgag
     9661 gggacaacat gggtagttaa atctttgtca atagtattgg agataacact aactgctatt
     9721 atcataacat cttcattttt actgcatgcc aaaaccaatg cctgccaaac aaaatcttag
     9781 acatcccaat ataatatgtt agttatattt ctattcacat cattattgaa aatacccagc
     9841 tcagtgcctg gcttaataaa tgtttaattc ccttacctac tcttgctcta tttttttatt
     9901 tgaaatggag atgagcaaaa taacacattc atggctgaag caattttttg gacatttctt
     9961 gttaccaaaa gatctataat caggacattg tttatgtaag ttggacaaaa aaaattcttc
    10021 ccctttatgt ccacccttcc tatgattgca agacaaaatt tccctccttt acctcatccc
    10081 tataacatgg gaggctgaga aaaatgaggg gagatggaac cagatacaag gagatccaat
    10141 aagagaagct tatttaaata ttgtgaaata aaggaagaac caaagcattt ttttaagtgg
    10201 ggaatccttt tgaacagtta ttatttatcc atattattaa caacatcttt tctgacaaaa
    10261 tccatcagat gaagtgtaaa tggataatct tttaatggat ctaaacctag aaagtttcac
    10321 ttactgttca tgtccgtgtt ccagaattgt gaaatggtgt gtggttttgc tttccaagtt
    10381 cttctctgcc tcctcttaat tctctaattc catgtcttac agaagaatga gaaatttctt
    10441 tcttacttga gtatcatgct ctaaaaaact tggcttcagt cacagaaacg ctggctctcc
    10501 tgtgcttata ttgaagccaa ctgcctttaa ttcttgggcc ctcttatatt tttaaggtgc
    10561 aaaatttgaa gtctcagtca ccagacacag gttctataca attaatgatg agctggagaa
    10621 gtaatatgta gctaattttt caaaagcatt gaatatactt tccggaaaga aaacagaaat
    10681 taaatattgc cacatcttgc cagaatccca tctgacacct taactttgtc aggtttccta
    10741 caacttgcta atcaagtttt atacattcta aatctcccca gtttctttgg ggctggaaga
    10801 tgcaacttcc atttaataga aactttgaaa tcttggggta agggagcagt ggggggacta
    10861 gggagaagga taagaaatag aattattgaa aagcccccac cagggacctt cctggccaga
    10921 atatgcagag taattcctgc tggcttcacc tttgaaagtc cctcgaaact atgcagatga
    10981 aactgagtct gtttttgata ttgtcagatg tattctacct tggaagtccc aacacctaaa
    11041 ctggaattct tgtatttaca tctcctccac tgtcccccac accacccctc aattcctgct
    11101 gcccctgcta atgttaagca tttttctctt gttatcatca ggttcacatt aaaaacagat
    11161 acttacaaac tgacttgaag cacagatact tttacgaatg tgataaaata ttttcttaag
    11221 aaaaggaaag aggatgtggg tcaaataaaa caccgcatgg atgttgattg gtgaatactg
    11281 gtgtaagaaa agggagctca ggaattttta ttactgtatt tgtaaatgag tttgaaggaa
    11341 tttgtaaatg ccactggtac atttttaagg tgacacattt gctccttata aagttattaa
    11401 aaattacagg gtaagcttaa atgacgtttg ccagtagttt tactttatat aatcaatatt
    11461 gatattgttg ctgaactatg taactttatg atgcattttt cagtcccttt tcagagcaaa
    11521 tgcttttgca atggtagtaa tgtttagttt aaattgactt aataaattat tacctgagca
    11581 a
//
LOCUS       NM_000951               1403 bp    mRNA    linear   PRI 23-SEP-2022
DEFINITION  Homo sapiens proline rich and Gla domain 2 (PRRG2), transcript
            variant 1, mRNA.
ACCESSION   NM_000951
VERSION     NM_000951.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1403)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (bases 1 to 1403)
  AUTHORS   Schuchardt BJ, Mikles DC, Hoang LM, Bhat V, McDonald CB, Sudol M and
            Farooq A.
  TITLE     Ligand binding to WW tandem domains of YAP2 transcriptional
            regulator is under negative cooperativity
  JOURNAL   FEBS J 281 (24), 5532-5551 (2014)
   PUBMED   25283809
REFERENCE   3  (bases 1 to 1403)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   4  (bases 1 to 1403)
  AUTHORS   Yazicioglu MN, Monaldini L, Chu K, Khazi FR, Murphy SL, Huang H,
            Margaritis P and High KA.
  TITLE     Cellular localization and characterization of cytosolic binding
            partners for Gla domain-containing proteins PRRG4 and PRRG2
  JOURNAL   J Biol Chem 288 (36), 25908-25914 (2013)
   PUBMED   23873930
  REMARK    GeneRIF: Cellular localization and characterization of cytosolic
            binding partners for Gla domain-containing proteins PRRG4 and PRRG2.
REFERENCE   5  (bases 1 to 1403)
  AUTHORS   Kulman JD, Harris JE, Xie L and Davie EW.
  TITLE     Proline-rich Gla protein 2 is a cell-surface vitamin K-dependent
            protein that binds to the transcriptional coactivator Yes-associated
            protein
  JOURNAL   Proc Natl Acad Sci U S A 104 (21), 8767-8772 (2007)
   PUBMED   17502622
  REMARK    GeneRIF: PRGP2 may be involved in a signal transduction pathway, the
            impairment of which may be an unintended consequence of warfarin
            therapy
REFERENCE   6  (bases 1 to 1403)
  AUTHORS   Fu GK, Wang JT, Yang J, Au-Young J and Stuve LL.
  TITLE     Circular rapid amplification of cDNA ends for high-throughput
            extension cloning of partial genes
  JOURNAL   Genomics 84 (1), 205-210 (2004)
   PUBMED   15203218
REFERENCE   7  (bases 1 to 1403)
  AUTHORS   Jin P, Fu GK, Wilson AD, Yang J, Chien D, Hawkins PR, Au-Young J and
            Stuve LL.
  TITLE     PCR isolation and cloning of novel splice variant mRNAs from known
            drug target genes
  JOURNAL   Genomics 83 (4), 566-571 (2004)
   PUBMED   15028279
REFERENCE   8  (bases 1 to 1403)
  AUTHORS   Kulman JD, Harris JE, Xie L and Davie EW.
  TITLE     Identification of two novel transmembrane gamma-carboxyglutamic acid
            proteins expressed broadly in fetal and adult tissues
  JOURNAL   Proc Natl Acad Sci U S A 98 (4), 1370-1375 (2001)
   PUBMED   11171957
REFERENCE   9  (bases 1 to 1403)
  AUTHORS   Jolliffe CN, Harvey KF, Haines BP, Parasivam G and Kumar S.
  TITLE     Identification of multiple proteins expressed in murine embryos as
            binding partners for the WW domains of the ubiquitin-protein ligase
            Nedd4
  JOURNAL   Biochem J 351 Pt 3, 557-565 (2000)
   PUBMED   11042109
REFERENCE   10  (bases 1 to 1403)
  AUTHORS   Kulman JD, Harris JE, Haldeman BA and Davie EW.
  TITLE     Primary structure and tissue distribution of two novel proline-rich
            gamma-carboxyglutamic acid proteins
  JOURNAL   Proc Natl Acad Sci U S A 94 (17), 9058-9062 (1997)
   PUBMED   9256434
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279840.2016.1, SRR1163658.171391.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000246794.10/ ENSP00000246794.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010619.7, CD609900.1,
            AF009243.1 and CB851486.1.
            On Nov 22, 2018 this sequence version replaced NM_000951.2.
            Summary: The protein encoded by this gene is a single-pass
            transmembrane protein containing an N-terminal
            gamma-carboxyglutamic acid (Gla) domain and tandem
            Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla
            domain is exposed on the cell surface while the PY motifs are
            cytoplasmic. The PY motifs of the encoded protein have been shown
            to interact with YAP1, a WW domain-containing protein. Therefore,
            it is thought that the encoded protein may be part of a signal
            transduction pathway. Two transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Oct
            2015].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1403
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..1403
                     /gene="PRRG2"
                     /gene_synonym="PRGP2"
                     /note="proline rich and Gla domain 2"
                     /db_xref="GeneID:5639"
                     /db_xref="HGNC:HGNC:9470"
                     /db_xref="MIM:604429"
     misc_feature    108..110
                     /gene="PRRG2"
                     /gene_synonym="PRGP2"
                     /note="upstream in-frame stop codon"
     CDS             180..788
                     /gene="PRRG2"
                     /gene_synonym="PRGP2"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; proline-rich Gla (G-carboxglutamic acid) polypeptide 2;
                     proline-rich Gla (G-carboxyglutamic acid) polypeptide 2;
                     transmembrane gamma-carboxyglutamic acid protein 2;
                     proline-rich Gla protein 2; proline-rich
                     gamma-carboxyglutamic acid protein 2; proline rich Gla
                     (G-carboxyglutamic acid) 2"
                     /codon_start=1
                     /product="transmembrane gamma-carboxyglutamic acid protein
                     2 isoform 1 precursor"
                     /protein_id="NP_000942.1"
                     /db_xref="CCDS:CCDS12773.1"
                     /db_xref="GeneID:5639"
                     /db_xref="HGNC:HGNC:9470"
                     /db_xref="MIM:604429"
                     /translation="MRGHPSLLLLYMALTTCLDTSPSEETDQEVFLGPPEAQSFLSSHT
                     RIPRANHWDLELLTPGNLERECLEERCSWEEAREYFEDNTLTERFWESYIYNGKGGRGR
                     VDVASLAVGLTGGILLIVLAGLGAFWYLRWRQHRGQQPCPQEAGLISPLSPLNPLGPPT
                     PLPPPPPPPPGLPTYEQALAASGVHDAPPPPYTSLRRPH"
     sig_peptide     180..248
                     /gene="PRRG2"
                     /gene_synonym="PRGP2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      1331..1336
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRRG2"
                     /gene_synonym="PRGP2"
                     /note="hexamer: AATAAA"
     polyA_site      1363
                     /gene="PRRG2"
                     /gene_synonym="PRGP2"
                     /note="major polyA site"
     regulatory      1384..1389
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRRG2"
                     /gene_synonym="PRGP2"
                     /note="hexamer: AATAAT"
     polyA_site      1403
                     /gene="PRRG2"
                     /gene_synonym="PRGP2"
ORIGIN
        1 agttccgccc acctgccaga aacggggatc aggcctggtt accgggagtg gggcgcccct
       61 cctccttatc ccctcccctc ttccctgtcc cctttcacag ctggctgtag ctggccaagg
      121 agttctcgat taaagaggaa ggggcagtgc tcacatttct gggcaggtgt ctggaaaata
      181 tgaggggcca cccctctctg ctgctgctat atatggcatt aaccacctgc ctggatactt
      241 cacccagtga ggagacagac caagaagtct tcctgggtcc cccagaggcc cagagcttcc
      301 tgagtagcca tacccggatt ccaagagcca accactggga cctggagctg ctcacaccag
      361 ggaacctgga acgggagtgt ctggaagaga ggtgttcctg ggaagaggcc agggagtatt
      421 ttgaggacaa cactctcacg gagcgctttt gggagagcta catctacaat ggcaaaggag
      481 ggcgtggacg agtggatgtg gccagcctgg ctgtggggct gacaggtggc atcctgctca
      541 ttgtcctggc cggcctggga gccttttggt atctgcgctg gcgacagcac cgaggccagc
      601 agccctgtcc ccaagaggcc gggctcatta gccctctgag tcctttgaac cctctgggcc
      661 caccgacgcc cctgcctcca cccccacccc cacccccagg cctccccacc tatgagcagg
      721 cgctggcagc ctctggggta cacgacgcac ctccaccccc ctacaccagc ctcaggaggc
      781 ctcactgaag agctgctttc gagacccggc tctccgaacc gtgcccctga ttcataccgg
      841 attccggaag ccgctaggcc tcatagacgc cgaagctgga cttggagtgg ggaatggtgg
      901 gagtaggggt catccggccc gaggcctgcc ctggcacacg cgtttccgcc gcgtatggat
      961 atacacatgt tttcggcaac gtgttcccgt gtcctggccc ctcacgggcc cccacactct
     1021 cctgaccgtg agggcactgg tcagttccgc ccccgtggta ggcagacgcg cggggaaatt
     1081 cggacccagg agcccagccc cggctgtgcc atcttgtgta tgggcagata tgacctgaca
     1141 gccccctcca gtgccacagg gtacgcacac gcagagcccc gcctgtgcac acgcgtgtct
     1201 tcgtgcactc cccgtgcggt acaggggcac ttcgtaaccc agggaaaggg cggggggcat
     1261 atttgcaagc gcgctcggtg cgggcaggct cgcattgcac ccagggagct ggagttgagc
     1321 tgttccccta aataaaaacc cttcggaaag gagaccaaaa aaagcagaaa taatgcaaaa
     1381 aataataatg aaatgaactg cga
//
LOCUS       NM_000952               3993 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens platelet activating factor receptor (PTAFR), transcript
            variant 3, mRNA.
ACCESSION   NM_000952
VERSION     NM_000952.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3993)
  AUTHORS   Deuster E, Hysenaj I, Kahaly M, Schmoeckel E, Mayr D, Beyer S,
            Kolben T, Hester A, Kraus F, Chelariu-Raicu A, Burges A, Mahner S,
            Jeschke U, Trillsch F and Czogalla B.
  TITLE     The Platelet-Activating Factor Receptor's Association with the
            Outcome of Ovarian Cancer Patients and Its Experimental Inhibition
            by Rupatadine
  JOURNAL   Cells 10 (9), 2337 (2021)
   PUBMED   34571986
  REMARK    GeneRIF: The Platelet-Activating Factor Receptor's Association with
            the Outcome of Ovarian Cancer Patients and Its Experimental
            Inhibition by Rupatadine. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3993)
  AUTHORS   Midgley A, Barakat D, Braitch M, Nichols C, Nebozhyn M, Edwards LJ,
            Fox SC, Gran B, Robins RA, Showe LC and Constantinescu CS.
  TITLE     PAF-R on activated T cells: Role in the IL-23/Th17 pathway and
            relevance to multiple sclerosis
  JOURNAL   Immunobiology 226 (1), 152023 (2021)
   PUBMED   33278709
  REMARK    GeneRIF: PAF-R on activated T cells: Role in the IL-23/Th17 pathway
            and relevance to multiple sclerosis.
REFERENCE   3  (bases 1 to 3993)
  AUTHORS   Liu J, Chen X, Zhou J, Ye L, Yang D and Song Y.
  TITLE     Particulate matter exposure promotes Pseudomonas aeruginosa invasion
            into airway epithelia by upregulating PAFR via the ROS-mediated PI3K
            pathway
  JOURNAL   Hum Cell 33 (4), 963-973 (2020)
   PUBMED   32627147
  REMARK    GeneRIF: Particulate matter exposure promotes Pseudomonas aeruginosa
            invasion into airway epithelia by upregulating PAFR via the
            ROS-mediated PI3K pathway.
REFERENCE   4  (bases 1 to 3993)
  AUTHORS   Liu L, Fahy KE, Awoyemi AA, Thapa P, Kelly LE, Chen J, Bihl JC, Cool
            DR, Chen Y, Rapp CM, Johnson RM and Travers JB.
  TITLE     Thermal Burn Injury Generates Bioactive Microvesicles: Evidence for
            a Novel Transport Mechanism for the Lipid Mediator
            Platelet-Activating Factor (PAF) That Involves Subcellular Particles
            and the PAF Receptor
  JOURNAL   J Immunol 205 (1), 193-201 (2020)
   PUBMED   32434939
  REMARK    GeneRIF: Thermal Burn Injury Generates Bioactive Microvesicles:
            Evidence for a Novel Transport Mechanism for the Lipid Mediator
            Platelet-Activating Factor (PAF) That Involves Subcellular Particles
            and the PAF Receptor.
REFERENCE   5  (bases 1 to 3993)
  AUTHORS   Cao C, Tan Q, Xu C, He L, Yang L, Zhou Y, Zhou Y, Qiao A, Lu M, Yi
            C, Han GW, Wang X, Li X, Yang H, Rao Z, Jiang H, Zhao Y, Liu J,
            Stevens RC, Zhao Q, Zhang XC and Wu B.
  TITLE     Structural basis for signal recognition and transduction by
            platelet-activating-factor receptor
  JOURNAL   Nat Struct Mol Biol 25 (6), 488-495 (2018)
   PUBMED   29808000
  REMARK    GeneRIF: The PAF Receptor (PAFR) structures, combined with
            single-molecule FRET and cell-based functional assays, suggest that
            the conformational change in the helical bundle is ligand dependent
            and plays a critical role in PAFR activation, thus greatly extending
            knowledge about signaling by G-protein-coupled receptors
REFERENCE   6  (bases 1 to 3993)
  AUTHORS   Mutoh H, Bito H, Minami M, Nakamura M, Honda Z, Izumi T, Nakata R,
            Kurachi Y, Terano A and Shimizu T.
  TITLE     Two different promoters direct expression of two distinct forms of
            mRNAs of human platelet-activating factor receptor
  JOURNAL   FEBS Lett 322 (2), 129-134 (1993)
   PUBMED   8387031
REFERENCE   7  (bases 1 to 3993)
  AUTHORS   Sugimoto T, Tsuchimochi H, McGregor CG, Mutoh H, Shimizu T and
            Kurachi Y.
  TITLE     Molecular cloning and characterization of the platelet-activating
            factor receptor gene expressed in the human heart
  JOURNAL   Biochem Biophys Res Commun 189 (2), 617-624 (1992)
   PUBMED   1281995
REFERENCE   8  (bases 1 to 3993)
  AUTHORS   Seyfried CE, Schweickart VL, Godiska R and Gray PW.
  TITLE     The human platelet-activating factor receptor gene (PTAFR) contains
            no introns and maps to chromosome 1
  JOURNAL   Genomics 13 (3), 832-834 (1992)
   PUBMED   1322356
REFERENCE   9  (bases 1 to 3993)
  AUTHORS   Kunz D, Gerard NP and Gerard C.
  TITLE     The human leukocyte platelet-activating factor receptor. cDNA
            cloning, cell surface expression, and construction of a novel
            epitope-bearing analog
  JOURNAL   J Biol Chem 267 (13), 9101-9106 (1992)
   PUBMED   1374385
REFERENCE   10  (bases 1 to 3993)
  AUTHORS   Shukla SD.
  TITLE     Platelet-activating factor receptor and signal transduction
            mechanisms
  JOURNAL   FASEB J 6 (6), 2296-2301 (1992)
   PUBMED   1312046
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK290240.1, SRR3476690.162927.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000373857.8/ ENSP00000362965.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA923972.1, BC063000.1 and
            AL137792.11.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000952.4.
            Summary: This gene encodes a seven-transmembrane G-protein-coupled
            receptor for platelet-activating factor (PAF) that localizes to
            lipid rafts and/or caveolae in the cell membrane. PAF
            (1-0-alkyl-2-acetyl-sn-glycero-3-phosphorylcholine) is a
            phospholipid that plays a significant role in oncogenic
            transformation, tumor growth, angiogenesis, metastasis, and
            pro-inflammatory processes. Binding of PAF to the PAF-receptor
            (PAFR) stimulates numerous signal transduction pathways including
            phospholipase C, D, A2, mitogen-activated protein kinases (MAPKs),
            and the phosphatidylinositol-calcium second messenger system.
            Following PAFR activation, cells become rapidly desensitized and
            this refractory state is dependent on PAFR phosphorylation,
            internalization, and down-regulation. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Aug 2011].
            Transcript Variant: This variant (3) lacks the 5' exon, but has an
            alternate 5' segment, as compared to variant 1. Variants 1-4 encode
            the same protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3993
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.3"
     gene            1..3993
                     /gene="PTAFR"
                     /gene_synonym="PAFR"
                     /note="platelet activating factor receptor"
                     /db_xref="GeneID:5724"
                     /db_xref="HGNC:HGNC:9582"
                     /db_xref="MIM:173393"
     misc_feature    117..119
                     /gene="PTAFR"
                     /gene_synonym="PAFR"
                     /note="upstream in-frame stop codon"
     CDS             138..1166
                     /gene="PTAFR"
                     /gene_synonym="PAFR"
                     /note="PAF-R"
                     /codon_start=1
                     /product="platelet-activating factor receptor"
                     /protein_id="NP_000943.1"
                     /db_xref="CCDS:CCDS318.1"
                     /db_xref="GeneID:5724"
                     /db_xref="HGNC:HGNC:9582"
                     /db_xref="MIM:173393"
                     /translation="MEPHDSSHMDSEFRYTLFPIVYSIIFVLGVIANGYVLWVFARLYP
                     CKKFNEIKIFMVNLTMADMLFLITLPLWIVYYQNQGNWILPKFLCNVAGCLFFINTYCS
                     VAFLGVITYNRFQAVTRPIKTAQANTRKRGISLSLVIWVAIVGAASYFLILDSTNTVPD
                     SAGSGNVTRCFEHYEKGSVPVLIIHIFIVFSFFLVFLIILFCNLVIIRTLLMQPVQQQR
                     NAEVKRRALWMVCTVLAVFIICFVPHHVVQLPWTLAELGFQDSKFHQAINDAHQVTLCL
                     LSTNCVLDPVIYCFLTKKFRKHLTEKFYSMRSSRKCSRATTDTVTEVVVPFNQIPGNSL
                     KN"
     misc_feature    186..251
                     /gene="PTAFR"
                     /gene_synonym="PAFR"
                     /note="propagated from UniProtKB/Swiss-Prot (P25105.1);
                     transmembrane region"
     misc_feature    300..359
                     /gene="PTAFR"
                     /gene_synonym="PAFR"
                     /note="propagated from UniProtKB/Swiss-Prot (P25105.1);
                     transmembrane region"
     misc_feature    411..476
                     /gene="PTAFR"
                     /gene_synonym="PAFR"
                     /note="propagated from UniProtKB/Swiss-Prot (P25105.1);
                     transmembrane region"
     misc_feature    537..602
                     /gene="PTAFR"
                     /gene_synonym="PAFR"
                     /note="propagated from UniProtKB/Swiss-Prot (P25105.1);
                     transmembrane region"
     misc_feature    642..644
                     /gene="PTAFR"
                     /gene_synonym="PAFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P25105.1); glycosylation site"
     misc_feature    690..752
                     /gene="PTAFR"
                     /gene_synonym="PAFR"
                     /note="propagated from UniProtKB/Swiss-Prot (P25105.1);
                     transmembrane region"
     misc_feature    837..899
                     /gene="PTAFR"
                     /gene_synonym="PAFR"
                     /note="propagated from UniProtKB/Swiss-Prot (P25105.1);
                     transmembrane region"
     misc_feature    966..1025
                     /gene="PTAFR"
                     /gene_synonym="PAFR"
                     /note="propagated from UniProtKB/Swiss-Prot (P25105.1);
                     transmembrane region"
     regulatory      3969..3974
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTAFR"
                     /gene_synonym="PAFR"
                     /note="hexamer: AATAAA"
     polyA_site      3993
                     /gene="PTAFR"
                     /gene_synonym="PAFR"
                     /note="major polyA site"
ORIGIN
        1 acttctgcaa ttgccagaca gcatagaggc tgaggctggg gccaggaccc agacagagac
       61 acacggtcac tgcagctgaa gccgctgccc ctgctacagg caccaccagg accagctgat
      121 cattccagcc cacagcaatg gagccacatg actcctccca catggactct gagttccgat
      181 acactctctt cccgattgtt tacagcatca tctttgtgct cggggtcatt gctaatggct
      241 acgtgctgtg ggtctttgcc cgcctgtacc cttgcaagaa attcaatgag ataaagatct
      301 tcatggtgaa cctcaccatg gcggacatgc tcttcttgat caccctgcca ctttggattg
      361 tctactacca aaaccagggc aactggatac tccccaaatt cctgtgcaac gtggctggct
      421 gccttttctt catcaacacc tactgctctg tggccttcct gggcgtcatc acttataacc
      481 gcttccaggc agtaactcgg cccatcaaga ctgctcaggc caacacccgc aagcgtggca
      541 tctctttgtc cttggtcatc tgggtggcca ttgtgggagc tgcatcctac ttcctcatcc
      601 tggactccac caacacagtg cccgacagtg ctggctcagg caacgtcact cgctgctttg
      661 agcattacga gaagggcagc gtgccagtcc tcatcatcca catcttcatc gtgttcagct
      721 tcttcctggt cttcctcatc atcctcttct gcaacctggt catcatccgt accttgctca
      781 tgcagccggt gcagcagcag cgcaacgctg aagtcaagcg ccgggcgctg tggatggtgt
      841 gcacggtctt ggcggtgttc atcatctgct tcgtgcccca ccacgtggtg cagctgccct
      901 ggacccttgc tgagctgggc ttccaggaca gcaaattcca ccaggccatt aatgatgcac
      961 atcaggtcac cctctgcctc cttagcacca actgtgtctt agaccctgtt atctactgtt
     1021 tcctcaccaa gaagttccgc aagcacctca ccgaaaagtt ctacagcatg cgcagtagcc
     1081 ggaaatgctc ccgggccacc acggatacgg tcactgaagt ggttgtgcca ttcaaccaga
     1141 tccctggcaa ttccctcaaa aattagtccc tgcttccagg cctgaagtct tctcctccat
     1201 gaacatcatg gactgagctg ggggaagaag ggatatctac tgtggtctgg gcaccacctc
     1261 tgtgggcact ggtgggccat tagatttgga ggctacctca cctgggcagg gatgatggca
     1321 gagccaggct gttggaaaat ccagaactca aatgagcccc ttcatccgcc tgtgggcgca
     1381 tactacagta actgtgactg atgactttat cctgagtccc ttaatcttat ggggccggaa
     1441 ggaatgtcag ggccaggtgc agaccttggg ggaagacttt aaaccaccta gttctccccg
     1501 atggggcatc ggtctaaagc tttgggggag tgggcgcagt ggctcacacc tgtaatccca
     1561 gcactttggg aggccgaggt gggcagatca tgggtcaaga gatcgagacc atcctggcca
     1621 acattgtaaa accccatctc tactaaaaca tacaaaaatt agccgggcat ggtggcacac
     1681 gcctgtagtc ccagctactc aggaggctga ggcaggagaa tcgcttgaac ctgggaggca
     1741 gaggttgcag tgaacctaga ttgcaccatt gcactctagc ctggcaacag agcgagattc
     1801 catctcaaaa aaaaaaaaaa aaaaaaaaaa aaagctttgg gcaactactc tcaagtgata
     1861 gaggtagact gggttaggaa aggacactgc cctcactgta tggcactacc ttggggcaga
     1921 cttttgagct aagatgttgc catcctctct ccaccctccg gcacaaggtc tttgtgacct
     1981 ttctcagggg aaggggcttg atggaacctt ctctgactca tctggcaacc tgtccctaat
     2041 ggtgaccaaa gaagataaaa catgaacaga ccaaaagcta ggacaagagc ttgcttccca
     2101 agacagacgt gtctgtctgc aaaggccttg cctctagtcc agtcagctct gggggagtgg
     2161 gaaggagatg cccacctcct ctttctgtct caacaatagt ccctaattaa gtaccttctg
     2221 tggggcagcc acccactgag ggtgggcaaa ggccccttga aagcaaaatt ggggctgggc
     2281 tcagtggctc atgcctataa tcccagcact ttgggaggcc aaggcaggca gatcacctga
     2341 ggtccggagt tcgagaccag cctggccaac gtggtgaaac gccatctcca ctaagaatac
     2401 aaaaatatgg ctcatgcctg taatcccagt actttgggag gctgaggtgg gccgatcatt
     2461 tgaagttagg agtttgagac cagcctgacc aatatggtaa aaccccgtct ctactaaaaa
     2521 tacaaaaaaa ttagcctggc gtggtggcgc atgcctgtag tcccataggc tgtagctact
     2581 gggaggaggc ggagcttgca gtgagccgag atcacgccac tgctctccag cctgggcgac
     2641 agagtgagac tctgtgtcaa aaacaaacaa acaaacaaaa aaggcaaaat tggagctgtc
     2701 caggccagga caccccgatg tccaggggct tccatacgaa caggcacatg ggctgggaag
     2761 tacatgaggc ccctgggtag aagggtctgt cagttctctc ctcccttgcc ctctgggagg
     2821 gtcctcctaa catagcttcc aggaggtggg aggagcagtt actgtcagca ggtgtcagcc
     2881 aggtgtcagc ttctcctggg gatctctaga tgtctgcttg tgatttttgg caagtatatg
     2941 caaatgagcc tcctctcctg ccctgagaca agtatctgca gtgtgaacct ggcagcctca
     3001 gacccaaggg gctcagagga aacttctctg gtttctagag ctctgtgctc cttcagagaa
     3061 gtcttccttc cttccagtca gtgtccctgt gaagctggga tactcatttc ctgtgtaccg
     3121 ggcaaacacc ggattgctga ttttgagaaa tgcctctcga tggacctgta acctgctgga
     3181 gtctgggatg gtagctgtgg gctggacttg gctgatggga tgacccggtg gctagtgcag
     3241 catcacacaa gcctggttca agtcttggct gtgtcatttc ctgctgaggg accaggcact
     3301 gaatttccta cctcttaggg tcattaccta tgaggttaaa gctacctcat gggattgtta
     3361 tacgccacta atgttgaggc agacacctct tggcagggtg actgctcatc ttagaccctc
     3421 cccttttctg cgaatttggg ccccttgatc ctctgatggg agctgaaagg atgagaggtg
     3481 ggcatctaga tttagggagg ctgttcaggc tttgcaggtc ccttacctga acacatagaa
     3541 accctggagc tgtgactgtg tccatgtgtg tgtgtttgtc tgtgtgtgtt gcgggggatg
     3601 ggcacctgca tgaatgtggt agagaaaatg gctctgctca gagggaagat acgcatagca
     3661 aggcagggac cagaggaatc acaggcgcct ggagagcagc cgggcaccgc ctccagggac
     3721 ctgccggctt ccctcagtcc tccaggggcc cagcactctt cctttaggcc ctgtgagcgt
     3781 cccttgtcag gatacattct ctcattttgc tgaagctgat ttgattgggt gtctgtttct
     3841 cgcagccaaa agagctctga atgaggaaag tgcttctgtg ctaactcccc gcgtctcctg
     3901 aatttcagtc attcatgtac ccgcctcgaa atttttgcaa tatctgtgta ccaactgtcc
     3961 atttacttaa taaagaagtt ttctttaaat taa
//
LOCUS       NM_000953               2957 bp    mRNA    linear   PRI 26-MAR-2023
DEFINITION  Homo sapiens prostaglandin D2 receptor (PTGDR), transcript variant
            1, mRNA.
ACCESSION   NM_000953
VERSION     NM_000953.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2957)
  AUTHORS   Yang X, Lu L, Wu C and Zhang F.
  TITLE     ATP2B1-AS1 exacerbates sepsis-induced cell apoptosis and
            inflammation by regulating miR-23a-3p/TLR4 axis
  JOURNAL   Allergol Immunopathol (Madr) 51 (2), 17-26 (2023)
   PUBMED   36916084
  REMARK    GeneRIF: ATP2B1-AS1 exacerbates sepsis-induced cell apoptosis and
            inflammation by regulating miR-23a-3p/TLR4 axis. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2957)
  AUTHORS   Dash P, Ghatak S, Topi G, Satapathy SR, Ek F, Hellman K, Olsson R,
            Mehdawi LM and Sjolander A.
  TITLE     High PGD2 receptor 2 levels are associated with poor prognosis in
            colorectal cancer patients and induce VEGF expression in colon
            cancer cells and migration in a zebrafish xenograft model
  JOURNAL   Br J Cancer 126 (4), 586-597 (2022)
   PUBMED   34750492
  REMARK    GeneRIF: High PGD2 receptor 2 levels are associated with poor
            prognosis in colorectal cancer patients and induce VEGF expression
            in colon cancer cells and migration in a zebrafish xenograft model.
REFERENCE   3  (bases 1 to 2957)
  AUTHORS   Frechette L, Binda C, Genier S, Degrandmaison J, Boisvert M and
            Parent JL.
  TITLE     GGA3 interacts with L-type prostaglandin D synthase and regulates
            the recycling and signaling of the DP1 receptor for prostaglandin D2
            in a Rab4-dependent mechanism
  JOURNAL   Cell Signal 72, 109641 (2020)
   PUBMED   32334026
  REMARK    GeneRIF: GGA3 interacts with L-type prostaglandin D synthase and
            regulates the recycling and signaling of the DP1 receptor for
            prostaglandin D2 in a Rab4-dependent mechanism.
REFERENCE   4  (bases 1 to 2957)
  AUTHORS   He Y, Zuo C, Jia D, Bai P, Kong D, Chen D, Liu G, Li J, Wang Y, Chen
            G, Yan S, Xiao B, Zhang J, Piao L, Li Y, Deng Y, Li B, Roux PP,
            Andreasson KI, Breyer RM, Su Y, Wang J, Lyu A, Shen Y and Yu Y.
  TITLE     Loss of DP1 Aggravates Vascular Remodeling in Pulmonary Arterial
            Hypertension via mTORC1 Signaling
  JOURNAL   Am J Respir Crit Care Med 201 (10), 1263-1276 (2020)
   PUBMED   31917615
  REMARK    GeneRIF: Loss of DP1 Aggravates Vascular Remodeling in Pulmonary
            Arterial Hypertension via mTORC1 Signaling.
REFERENCE   5  (bases 1 to 2957)
  AUTHORS   Binda C, Genier S, Degrandmaison J, Picard S, Frechette L, Jean S,
            Marsault E and Parent JL.
  TITLE     L-type prostaglandin D synthase regulates the trafficking of the
            PGD2 DP1 receptor by interacting with the GTPase Rab4
  JOURNAL   J Biol Chem 294 (45), 16865-16883 (2019)
   PUBMED   31575663
  REMARK    GeneRIF: -type prostaglandin D synthase regulates the trafficking of
            the PGD2 DP1 receptor by interacting with the GTPase Rab4
REFERENCE   6  (bases 1 to 2957)
  AUTHORS   Gervais FG, Cruz RP, Chateauneuf A, Gale S, Sawyer N, Nantel F,
            Metters KM and O'neill GP.
  TITLE     Selective modulation of chemokinesis, degranulation, and apoptosis
            in eosinophils through the PGD2 receptors CRTH2 and DP
  JOURNAL   J Allergy Clin Immunol 108 (6), 982-988 (2001)
   PUBMED   11742277
REFERENCE   7  (bases 1 to 2957)
  AUTHORS   Wright DH, Ford-Hutchinson AW, Chadee K and Metters KM.
  TITLE     The human prostanoid DP receptor stimulates mucin secretion in
            LS174T cells
  JOURNAL   Br J Pharmacol 131 (8), 1537-1545 (2000)
   PUBMED   11139429
REFERENCE   8  (bases 1 to 2957)
  AUTHORS   Kobayashi T, Ushikubi F and Narumiya S.
  TITLE     Amino acid residues conferring ligand binding properties of
            prostaglandin I and prostaglandin D receptors. Identification by
            site-directed mutagenesis
  JOURNAL   J Biol Chem 275 (32), 24294-24303 (2000)
   PUBMED   10827082
REFERENCE   9  (bases 1 to 2957)
  AUTHORS   Boie Y, Sawyer N, Slipetz DM, Metters KM and Abramovitz M.
  TITLE     Molecular cloning and characterization of the human prostanoid DP
            receptor
  JOURNAL   J Biol Chem 270 (32), 18910-18916 (1995)
   PUBMED   7642548
REFERENCE   10  (bases 1 to 2957)
  AUTHORS   Senior J, Sangha R, Baxter GS, Marshall K and Clayton JK.
  TITLE     In vitro characterization of prostanoid FP-, DP-, IP- and
            TP-receptors on the non-pregnant human myometrium
  JOURNAL   Br J Pharmacol 107 (1), 215-221 (1992)
   PUBMED   1422574
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC040968.1, DRR138528.202482.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000306051.3/ ENSP00000303424.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL365475.1, BC040968.1 and
            AK026202.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_000953.2.
            Summary: This gene encodes a member of the guanine
            nucleotide-binding protein (G protein)-coupled receptor (GPCR)
            superfamily. The receptors are seven-pass transmembrane proteins
            that respond to extracellular cues and activate intracellular
            signal transduction pathways. This protein is reported to be a
            receptor for prostaglandin D2, which is a mediator of allergic
            inflammation and allergic airway inflammation in asthma.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2013].
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2957
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.1"
     gene            1..2957
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="prostaglandin D2 receptor"
                     /db_xref="GeneID:5729"
                     /db_xref="HGNC:HGNC:9591"
                     /db_xref="MIM:604687"
     CDS             118..1197
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="isoform 1 is encoded by transcript variant 1; PGD2
                     receptor"
                     /codon_start=1
                     /product="prostaglandin D2 receptor isoform 1"
                     /protein_id="NP_000944.1"
                     /db_xref="CCDS:CCDS9707.1"
                     /db_xref="GeneID:5729"
                     /db_xref="HGNC:HGNC:9591"
                     /db_xref="MIM:604687"
                     /translation="MKSPFYRCQNTTSVEKGNSAVMGGVLFSTGLLGNLLALGLLARSG
                     LGWCSRRPLRPLPSVFYMLVCGLTVTDLLGKCLLSPVVLAAYAQNRSLRVLAPALDNSL
                     CQAFAFFMSFFGLSSTLQLLAMALECWLSLGHPFFYRRHITLRLGALVAPVVSAFSLAF
                     CALPFMGFGKFVQYCPGTWCFIQMVHEEGSLSVLGYSVLYSSLMALLVLATVLCNLGAM
                     RNLYAMHRRLQRHPRSCTRDCAEPRADGREASPQPLEELDHLLLLALMTVLFTMCSLPV
                     IYRAYYGAFKDVKEKNRTSEEAEDLRALRFLSVISIVDPWIFIIFRSPVFRIFFHKIFI
                     RPLRYRSRCSNSTNMESSL"
     misc_feature    145..147
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13258.2); glycosylation site"
     misc_feature    181..243
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13258.2);
                     transmembrane region"
     misc_feature    295..357
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13258.2);
                     transmembrane region"
     misc_feature    385..387
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13258.2); glycosylation site"
     misc_feature    439..501
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13258.2);
                     transmembrane region"
     misc_feature    568..630
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13258.2);
                     transmembrane region"
     misc_feature    703..765
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13258.2);
                     transmembrane region"
     misc_feature    904..966
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13258.2);
                     transmembrane region"
     misc_feature    1006..1008
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13258.2); glycosylation site"
     misc_feature    1048..1110
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13258.2);
                     transmembrane region"
     regulatory      1259..1264
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="hexamer: ATTAAA"
     polyA_site      1278
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="major polyA site"
     regulatory      1595..1600
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="hexamer: CATAAA"
     polyA_site      1620
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
     regulatory      2941..2946
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="hexamer: AATATA"
     polyA_site      2957
                     /gene="PTGDR"
                     /gene_synonym="AS1; ASRT1; DP; DP1; PTGDR1"
                     /note="major polyA site"
ORIGIN
        1 gtggcgcagc ttctccgccc gagccgcgcg cggagctgcc gggggctcct tagcacccgg
       61 gcgccggggc cctcgccctt ccgcagcctt cactccagcc ctctgctccc gcacgccatg
      121 aagtcgccgt tctaccgctg ccagaacacc acctctgtgg aaaaaggcaa ctcggcggtg
      181 atgggcgggg tgctcttcag caccggcctc ctgggcaacc tgctggccct ggggctgctg
      241 gcgcgctcgg ggctggggtg gtgctcgcgg cgtccactgc gcccgctgcc ctcggtcttc
      301 tacatgctgg tgtgtggcct gacggtcacc gacttgctgg gcaagtgcct cctaagcccg
      361 gtggtgctgg ctgcctacgc tcagaaccgg agtctgcggg tgcttgcgcc cgcattggac
      421 aactcgttgt gccaagcctt cgccttcttc atgtccttct ttgggctctc ctcgacactg
      481 caactcctgg ccatggcact ggagtgctgg ctctccctag ggcacccttt cttctaccga
      541 cggcacatca ccctgcgcct gggcgcactg gtggccccgg tggtgagcgc cttctccctg
      601 gctttctgcg cgctaccttt catgggcttc gggaagttcg tgcagtactg ccccggcacc
      661 tggtgcttta tccagatggt ccacgaggag ggctcgctgt cggtgctggg gtactctgtg
      721 ctctactcca gcctcatggc gctgctggtc ctcgccaccg tgctgtgcaa cctcggcgcc
      781 atgcgcaacc tctatgcgat gcaccggcgg ctgcagcggc acccgcgctc ctgcaccagg
      841 gactgtgccg agccgcgcgc ggacgggagg gaagcgtccc ctcagcccct ggaggagctg
      901 gatcacctcc tgctgctggc gctgatgacc gtgctcttca ctatgtgttc tctgcccgta
      961 atttatcgcg cttactatgg agcatttaag gatgtcaagg agaaaaacag gacctctgaa
     1021 gaagcagaag acctccgagc cttgcgattt ctatctgtga tttcaattgt ggacccttgg
     1081 atttttatca ttttcagatc tccagtattt cggatatttt ttcacaagat tttcattaga
     1141 cctcttaggt acaggagccg gtgcagcaat tccactaaca tggaatccag tctgtgacag
     1201 tgtttttcac tctgtggtaa gctgaggaat atgtcacatt ttcagtcaaa gaaccatgat
     1261 taaaaaaaaa aagacaactt acaatttaaa tccttaaaag ttacctccca taacaaaagc
     1321 atgtatatgt attttcaaaa gtatttgata tcttaacaat gtgttaccat tctatagtca
     1381 tgaacccctt cagtgcattt tcattttttt attaacagca actaaaattt tatatattgt
     1441 aaccagtgtt aaaagtctta aaaaacaatg gtattaattg tccctacatt tgtgcttggt
     1501 ggccctattt ttttttttta gagaggcctt gagacataca ggtcttttaa aatacagtag
     1561 aaacaccact gtttacgatt atacgatgga cattcataaa aagcataatt tcttacccta
     1621 ttcatttttt ggtgaaacct gattcattga ttttatatca ttgccgatgt ttagttcatt
     1681 tctttgccaa ttgatctaag catagcctga attatgatgt tcctcagaga agtgaggtgg
     1741 gaaatatgac caggtcaggc agttggaggg gcttccccag ccaccatcgg ggagtacttg
     1801 ctgcctcagg tggagacctg aagctgtaac tagatgcaga gcaagatatg actatagccc
     1861 acaacccaaa gaagcaaaaa ttcgttttta tcttttgaaa tccagtttct tttgtattga
     1921 gtcaagggtg tcagtaggaa tcaaaagttg ggggtgggtt gcaaaatgtt ctttcagttt
     1981 ttagaacctc cattttataa aagaattatc ctatcaatgg attctttagt ggaaggattt
     2041 atgcttcttt gaaaaccagt gtgtgactca ctgtagagcc atgtttactg tttgactgtg
     2101 tggcacaggg gggcatttgg cacagcaaaa agcccaccca ggacttagcc tcagttgacg
     2161 atagtaacaa tggccttaac atctacctta acagctacct attacagccg tattctgctg
     2221 tccgtggaga cggtaagatc ttaggttcca agattttact tcaaattaca ccttcaaaac
     2281 tggagcagca tatagccgaa aaggagcaca actgagcact ttaatagtaa tttaaaagtt
     2341 ttcaagggtc agcaatatga tgactgaaag ggaaaagtgg aggaaacgca gctgcaactg
     2401 aagcggagac tctaaaccca gcttgcaggt aagagctttc acctttggta aaagaacagc
     2461 tggggaggtt caaggggttt cagcatctct ggagttcctt tgtatctgac aatctcagga
     2521 ctccaaggtg caaagcctgc tgcatttgcg tgatctcaag acctccagcc agaagtccct
     2581 tccaaatata agagtactca tgtttattta tttccaactg agcagcaacc tcctttgttt
     2641 cacttatgtt ttttccagta tctgagataa tataaagctg ggtaattttt tatgtaattt
     2701 tttggtatag caaaactgtg aaaaagccaa attaggcata caaggagtat gatttaacag
     2761 tatgacatga tgaaaaaaat acagttgttt ttgaaattta acttttgttt gtaccttcaa
     2821 tgtgtaagta catgcatgtt ttattgtcag aggaagaaca tgttttttgt attctttttt
     2881 tggagaggtg tgttaggata attgtccagt taatttgaaa aggccccaga tgaatcaata
     2941 aatataattt tatagta
//
LOCUS       NM_000954                812 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens prostaglandin D2 synthase (PTGDS), mRNA.
ACCESSION   NM_000954
VERSION     NM_000954.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 812)
  AUTHORS   Iida T, Nakatsuji M, Teraoka Y, Goto Y, Yamamura T and Inui T.
  TITLE     Thermodynamic stability of human lipocalin-type prostaglandin D
            synthase under various pH conditions
  JOURNAL   J Biochem 174 (1), 21-31 (2023)
   PUBMED   36762787
  REMARK    GeneRIF: Thermodynamic stability of human lipocalin-type
            prostaglandin D synthase under various pH conditions.
REFERENCE   2  (bases 1 to 812)
  AUTHORS   Shen BQ, Sankaranarayanan I, Price TJ and Tavares-Ferreira D.
  TITLE     Sex-differences in prostaglandin signaling: a semi-systematic review
            and characterization of PTGDS expression in human sensory neurons
  JOURNAL   Sci Rep 13 (1), 4670 (2023)
   PUBMED   36949072
  REMARK    GeneRIF: Sex-differences in prostaglandin signaling: a
            semi-systematic review and characterization of PTGDS expression in
            human sensory neurons. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 812)
  AUTHORS   Hu S, Ren S, Cai Y, Liu J, Han Y, Zhao Y, Yang J, Zhou X and Wang X.
  TITLE     Glycoprotein PTGDS promotes tumorigenesis of diffuse large B-cell
            lymphoma by MYH9-mediated regulation of Wnt-beta-catenin-STAT3
            signaling
  JOURNAL   Cell Death Differ 29 (3), 642-656 (2022)
   PUBMED   34743203
  REMARK    GeneRIF: Glycoprotein PTGDS promotes tumorigenesis of diffuse large
            B-cell lymphoma by MYH9-mediated regulation of
            Wnt-beta-catenin-STAT3 signaling.
REFERENCE   4  (bases 1 to 812)
  AUTHORS   Jiang P, Cao Y, Gao F, Sun W, Liu J, Ma Z, Xie M and Fu S.
  TITLE     SNX10 and PTGDS are associated with the progression and prognosis of
            cervical squamous cell carcinoma
  JOURNAL   BMC Cancer 21 (1), 694 (2021)
   PUBMED   34116656
  REMARK    GeneRIF: SNX10 and PTGDS are associated with the progression and
            prognosis of cervical squamous cell carcinoma. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 812)
  AUTHORS   Wang P, Li Q, Dong X, An H, Li J, Zhao L, Yan H, Aritake K, Huang Z,
            Strohl KP, Urade Y, Zhang J and Han F.
  TITLE     Lipocalin-type prostaglandin D synthase levels increase in patients
            with narcolepsy and idiopathic hypersomnia
  JOURNAL   Sleep 44 (4) (2021)
   PUBMED   33175978
  REMARK    GeneRIF: Lipocalin-type prostaglandin D synthase levels increase in
            patients with narcolepsy and idiopathic hypersomnia.
REFERENCE   6  (bases 1 to 812)
  AUTHORS   Zahn M, Mader M, Schmidt B, Bollensen E and Felgenhauer K.
  TITLE     Purification and N-terminal sequence of beta-trace, a protein
            abundant in human cerebrospinal fluid
  JOURNAL   Neurosci Lett 154 (1-2), 93-95 (1993)
   PUBMED   7689714
REFERENCE   7  (bases 1 to 812)
  AUTHORS   Harrington MG, Aebersold R, Martin BM, Merril CR and Hood L.
  TITLE     Identification of a brain-specific human cerebrospinal fluid
            glycoprotein, beta-trace protein
  JOURNAL   Appl Theor Electrophor 3 (5), 229-234 (1993)
   PUBMED   7692978
REFERENCE   8  (bases 1 to 812)
  AUTHORS   White DM, Mikol DD, Espinosa R, Weimer B, Le Beau MM and Stefansson
            K.
  TITLE     Structure and chromosomal localization of the human gene for a brain
            form of prostaglandin D2 synthase
  JOURNAL   J Biol Chem 267 (32), 23202-23208 (1992)
   PUBMED   1385416
REFERENCE   9  (bases 1 to 812)
  AUTHORS   Kuruvilla AP, Hochwald GM, Ghiso J, Castano EM, Pizzolato M and
            Frangione B.
  TITLE     Isolation and amino terminal sequence of beta-trace, a novel protein
            from human cerebrospinal fluid
  JOURNAL   Brain Res 565 (2), 337-340 (1991)
   PUBMED   1726844
REFERENCE   10  (bases 1 to 812)
  AUTHORS   Nagata A, Suzuki Y, Igarashi M, Eguchi N, Toh H, Urade Y and
            Hayaishi O.
  TITLE     Human brain prostaglandin D synthase has been evolutionarily
            differentiated from lipophilic-ligand carrier proteins
  JOURNAL   Proc Natl Acad Sci U S A 88 (9), 4020-4024 (1991)
   PUBMED   1902577
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HM005686.1, SRR5189655.211023.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371625.8/ ENSP00000360687.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL807752.10.
            On Nov 22, 2018 this sequence version replaced NM_000954.5.
            Summary: The protein encoded by this gene is a
            glutathione-independent prostaglandin D synthase that catalyzes the
            conversion of prostaglandin H2 (PGH2) to postaglandin D2 (PGD2).
            PGD2 functions as a neuromodulator as well as a trophic factor in
            the central nervous system. PGD2 is also involved in smooth muscle
            contraction/relaxation and is a potent inhibitor of platelet
            aggregation. This gene is preferentially expressed in brain.
            Studies with transgenic mice overexpressing this gene suggest that
            this gene may be also involved in the regulation of non-rapid eye
            movement sleep. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..812
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..812
                     /gene="PTGDS"
                     /gene_synonym="L-PGDS; LPGDS; PDS; PGD2; PGDS; PGDS2"
                     /note="prostaglandin D2 synthase"
                     /db_xref="GeneID:5730"
                     /db_xref="HGNC:HGNC:9592"
                     /db_xref="MIM:176803"
     CDS             76..648
                     /gene="PTGDS"
                     /gene_synonym="L-PGDS; LPGDS; PDS; PGD2; PGDS; PGDS2"
                     /EC_number="5.3.99.2"
                     /note="prostaglandin-H2 D-isomerase; beta-trace protein;
                     PGD2 synthase; lipocalin-type prostaglandin D synthase;
                     glutathione-independent PGD synthase; cerebrin-28;
                     glutathione-independent PGD synthetase; prostaglandin D2
                     synthase 21kDa (brain); testis tissue sperm-binding protein
                     Li 63n"
                     /codon_start=1
                     /product="prostaglandin-H2 D-isomerase precursor"
                     /protein_id="NP_000945.3"
                     /db_xref="CCDS:CCDS7019.1"
                     /db_xref="GeneID:5730"
                     /db_xref="HGNC:HGNC:9592"
                     /db_xref="MIM:176803"
                     /translation="MATHHTLWMGLALLGVLGDLQAAPEAQVSVQPNFQQDKFLGRWFS
                     AGLASNSSWLREKKAALSMCKSVVAPATDGGLNLTSTFLRKNQCETRTMLLQPAGSLGS
                     YSYRSPHWGSTYSVSVVETDYDQYALLYSQGSKGPGEDFRMATLYSRTQTPRAELKEKF
                     TAFCKAQGFTEDTIVFLPQTDKCMTEQ"
     sig_peptide     76..141
                     /gene="PTGDS"
                     /gene_synonym="L-PGDS; LPGDS; PDS; PGD2; PGDS; PGDS2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     142..645
                     /gene="PTGDS"
                     /gene_synonym="L-PGDS; LPGDS; PDS; PGD2; PGDS; PGDS2"
                     /product="Prostaglandin-H2 D-isomerase. /id=PRO_0000017945"
                     /note="propagated from UniProtKB/Swiss-Prot (P41222.1)"
     misc_feature    160..162
                     /gene="PTGDS"
                     /gene_synonym="L-PGDS; LPGDS; PDS; PGD2; PGDS; PGDS2"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:23234360; propagated from
                     UniProtKB/Swiss-Prot (P41222.1); glycosylation site"
     misc_feature    226..228
                     /gene="PTGDS"
                     /gene_synonym="L-PGDS; LPGDS; PDS; PGD2; PGDS; PGDS2"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19838169, ECO:0000269|PubMed:8336134;
                     propagated from UniProtKB/Swiss-Prot (P41222.1);
                     glycosylation site"
     misc_feature    307..309
                     /gene="PTGDS"
                     /gene_synonym="L-PGDS; LPGDS; PDS; PGD2; PGDS; PGDS2"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19838169,
                     ECO:0000269|PubMed:22171320, ECO:0000269|PubMed:8336134;
                     propagated from UniProtKB/Swiss-Prot (P41222.1);
                     glycosylation site"
     regulatory      788..793
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTGDS"
                     /gene_synonym="L-PGDS; LPGDS; PDS; PGD2; PGDS; PGDS2"
                     /note="hexamer: AATAAA"
     polyA_site      812
                     /gene="PTGDS"
                     /gene_synonym="L-PGDS; LPGDS; PDS; PGD2; PGDS; PGDS2"
                     /note="major polyA site"
ORIGIN
        1 gctcctcctg cacacctccc tcgctctccc acaccactgg caccaggccc cggacacccg
       61 ctctgctgca ggagaatggc tactcatcac acactgtgga tgggactggc cctgctgggg
      121 gtgctgggcg acctgcaggc agcaccggag gcccaggtct ccgtgcagcc caacttccag
      181 caggacaagt tcctggggcg ctggttcagc gcgggcctcg cctccaactc gagctggctc
      241 cgggagaaga aggcggcgtt gtccatgtgc aagtctgtgg tggcccctgc cacggatggt
      301 ggcctcaacc tgacctccac cttcctcagg aaaaaccagt gtgagacccg aaccatgctg
      361 ctgcagcccg cggggtccct cggctcctac agctaccgga gtccccactg gggcagcacc
      421 tactccgtgt cagtggtgga gaccgactac gaccagtacg cgctgctgta cagccagggc
      481 agcaagggcc ctggcgagga cttccgcatg gccaccctct acagccgaac ccagaccccc
      541 agggctgagt taaaggagaa attcaccgcc ttctgcaagg cccagggctt cacagaggat
      601 accattgtct tcctgcccca aaccgataag tgcatgacgg aacaatagga ctccccaggg
      661 ctgaagctgg gatcccggcc agccaggtga cccccacgct ctggatgtct ctgctctgtt
      721 ccttccccga gcccctgccc cggctccccg ccaaagcaac cctgcccact caggcttcat
      781 cctgcacaat aaactccgga agcaagtcag ta
//
LOCUS       NM_000955               1413 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens prostaglandin E receptor 1 (PTGER1), mRNA.
ACCESSION   NM_000955
VERSION     NM_000955.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1413)
  AUTHORS   Bryson TD and Harding P.
  TITLE     Prostaglandin E2 EP receptors in cardiovascular disease: An update
  JOURNAL   Biochem Pharmacol 195, 114858 (2022)
   PUBMED   34822808
  REMARK    GeneRIF: Prostaglandin E2 EP receptors in cardiovascular disease: An
            update. Review article
REFERENCE   2  (bases 1 to 1413)
  AUTHORS   Zhu J, Mayr D, Kuhn C, Mahner S, Jeschke U and von Schonfeldt V.
  TITLE     Prostaglandin E2 receptor EP1 in healthy and diseased human
            endometrium
  JOURNAL   Histochem Cell Biol 149 (2), 153-160 (2018)
   PUBMED   29134301
  REMARK    GeneRIF: No significant differences in EP1 intensity were detected
            for histological, stage, grading, metastatic and recurrent subtypes
            in endometrial cancer.
REFERENCE   3  (bases 1 to 1413)
  AUTHORS   Yang HJ, Jiang JH, Yang YT, Yang XD, Guo Z, Qi YP, Zeng FH, Zhang
            KL, Chen NZ, Xiang BD and Li LQ.
  TITLE     Cyclooxygenase-2 expression is associated with initiation of
            hepatocellular carcinoma, while prostaglandin receptor-1 expression
            predicts survival
  JOURNAL   World J Gastroenterol 22 (39), 8798-8805 (2016)
   PUBMED   27818595
  REMARK    GeneRIF: COX-2 expression appears to be linked to early
            hepatocellular carcinoma events (initiation), while EP1 receptor
            expression may participate in tumor progression and predict survival
REFERENCE   4  (bases 1 to 1413)
  AUTHORS   Plaza-Seron Mdel C, Ayuso P, Perez-Sanchez N, Dona I, Blanca-Lopez
            N, Flores C, Galindo L, Molina A, Perkins JR, Cornejo-Garcia JA,
            Agundez JA, Garcia-Martin E, Campo P, Canto G and Blanca M.
  TITLE     Copy number variation in ALOX5 and PTGER1 is associated with
            NSAIDs-induced urticaria and/or angioedema
  JOURNAL   Pharmacogenet Genomics 26 (6), 280-287 (2016)
   PUBMED   26959713
  REMARK    GeneRIF: Copy number variation in PTGER1 is associated with
            NSAIDs-induced urticaria and/or angioedema
REFERENCE   5  (bases 1 to 1413)
  AUTHORS   Chen SX, Du SY, Wang YT, Zhao HC, Zhang YL and Yao L.
  TITLE     Retinoic acid morpholine amide (RAMA) inhibits expression of Fas
            ligand through EP1 receptor in colon cancer cells
  JOURNAL   Tumour Biol 37 (1), 323-329 (2016)
   PUBMED   26211005
  REMARK    GeneRIF: suppression of EP1 prevented RAMA-induced FasL suppression
            in CLT85 cells at both the mRNA and protein levels
REFERENCE   6  (bases 1 to 1413)
  AUTHORS   Kurihara Y, Endo H and Kondo H.
  TITLE     Induction of IL-6 via the EP3 subtype of prostaglandin E receptor in
            rat adjuvant-arthritic synovial cells
  JOURNAL   Inflamm Res 50 (1), 1-5 (2001)
   PUBMED   11235015
REFERENCE   7  (bases 1 to 1413)
  AUTHORS   Duncan AM, Anderson LL, Funk CD, Abramovitz M and Adam M.
  TITLE     Chromosomal localization of the human prostanoid receptor gene
            family
  JOURNAL   Genomics 25 (3), 740-742 (1995)
   PUBMED   7759114
REFERENCE   8  (bases 1 to 1413)
  AUTHORS   Coleman RA, Smith WL and Narumiya S.
  TITLE     International Union of Pharmacology classification of prostanoid
            receptors: properties, distribution, and structure of the receptors
            and their subtypes
  JOURNAL   Pharmacol Rev 46 (2), 205-229 (1994)
   PUBMED   7938166
  REMARK    Review article
REFERENCE   9  (bases 1 to 1413)
  AUTHORS   Funk CD, Furci L, FitzGerald GA, Grygorczyk R, Rochette C, Bayne MA,
            Abramovitz M, Adam M and Metters KM.
  TITLE     Cloning and expression of a cDNA for the human prostaglandin E
            receptor EP1 subtype
  JOURNAL   J Biol Chem 268 (35), 26767-26772 (1993)
   PUBMED   8253813
REFERENCE   10  (bases 1 to 1413)
  AUTHORS   Lee,T.Y. and Watanabe,Y.
  TITLE     A nonlinear regression model as applied to the comparison of
            axis-angles of electrocardiographic systems
  JOURNAL   Jpn Heart J 16 (3), 243-256 (1975)
   PUBMED   1160156
  REMARK    GeneRIF: Functional analysis of the mouse counterpart.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC051286.1, L22647.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000292513.4/ ENSP00000292513.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC051286.1 and BC039034.1.
            On Nov 23, 2018 this sequence version replaced NM_000955.2.
            Summary: The protein encoded by this gene is a member of the G
            protein-coupled receptor family. This protein is one of four
            receptors identified for prostaglandin E2 (PGE2). Through a
            phosphatidylinositol-calcium second messenger system, G-Q proteins
            mediate this receptor's activity. Knockout studies in mice
            suggested a role of this receptor in mediating algesia and in
            regulation of blood pressure. Studies in mice also suggested that
            this gene may mediate adrenocorticotropic hormone response to
            bacterial endotoxin. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1413
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.12"
     gene            1..1413
                     /gene="PTGER1"
                     /gene_synonym="EP1"
                     /note="prostaglandin E receptor 1"
                     /db_xref="GeneID:5731"
                     /db_xref="HGNC:HGNC:9593"
                     /db_xref="MIM:176802"
     misc_feature    51..53
                     /gene="PTGER1"
                     /gene_synonym="EP1"
                     /note="upstream in-frame stop codon"
     CDS             111..1319
                     /gene="PTGER1"
                     /gene_synonym="EP1"
                     /note="prostanoid EP1 receptor; PGE receptor, EP1 subtype;
                     prostaglandin E receptor 1 (subtype EP1), 42kD;
                     prostaglandin E receptor 1, subtype EP1; PGE2 receptor EP1
                     subtype; prostaglandin E receptor 1 (subtype EP1), 42kDa"
                     /codon_start=1
                     /product="prostaglandin E2 receptor EP1 subtype"
                     /protein_id="NP_000946.2"
                     /db_xref="CCDS:CCDS12309.1"
                     /db_xref="GeneID:5731"
                     /db_xref="HGNC:HGNC:9593"
                     /db_xref="MIM:176802"
                     /translation="MSPCGPLNLSLAGEATTCAAPWVPNTSAVPPSGASPALPIFSMTL
                     GAVSNLLALALLAQAAGRLRRRRSAATFLLFVASLLATDLAGHVIPGALVLRLYTAGRA
                     PAGGACHFLGGCMVFFGLCPLLLGCGMAVERCVGVTRPLLHAARVSVARARLALAAVAA
                     VALAVALLPLARVGRYELQYPGTWCFIGLGPPGGWRQALLAGLFASLGLVALLAALVCN
                     TLSGLALLRARWRRRSRRPPPASGPDSRRRWGAHGPRSASASSASSIASASTFFGGSRS
                     SGSARRARAHDVEMVGQLVGIMVVSCICWSPMLVLVALAVGGWSSTSLQRPLFLAVRLA
                     SWNQILDPWVYILLRQAVLRQLLRLLPPRAGAKGGPAGLGLTPSAWEASSLRSSRHSGL
                     SHF"
     misc_feature    132..134
                     /gene="PTGER1"
                     /gene_synonym="EP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P34995.3); glycosylation site"
     misc_feature    183..185
                     /gene="PTGER1"
                     /gene_synonym="EP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P34995.3); glycosylation site"
     misc_feature    216..296
                     /gene="PTGER1"
                     /gene_synonym="EP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P34995.3);
                     transmembrane region"
     misc_feature    327..398
                     /gene="PTGER1"
                     /gene_synonym="EP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P34995.3);
                     transmembrane region"
     misc_feature    444..509
                     /gene="PTGER1"
                     /gene_synonym="EP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P34995.3);
                     transmembrane region"
     misc_feature    576..641
                     /gene="PTGER1"
                     /gene_synonym="EP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P34995.3);
                     transmembrane region"
     misc_feature    714..791
                     /gene="PTGER1"
                     /gene_synonym="EP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P34995.3);
                     transmembrane region"
     misc_feature    822..908
                     /gene="PTGER1"
                     /gene_synonym="EP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P34995.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    993..1073
                     /gene="PTGER1"
                     /gene_synonym="EP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P34995.3);
                     transmembrane region"
     misc_feature    1107..1172
                     /gene="PTGER1"
                     /gene_synonym="EP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P34995.3);
                     transmembrane region"
     regulatory      1394..1399
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTGER1"
                     /gene_synonym="EP1"
                     /note="hexamer: AATAAA"
     polyA_site      1413
                     /gene="PTGER1"
                     /gene_synonym="EP1"
                     /note="major polyA site"
ORIGIN
        1 gagggaggaa gcggcttgcc ggagagccag ggcgcagtgg gcggcagggc tgagcggccg
       61 gtgatgggga ccccacatcc caggcagtgc cggcacccct ggcgcctgac atgagccctt
      121 gcgggcccct caacctgagc ctggcgggcg aggcgaccac atgcgcggcg ccctgggtcc
      181 ccaacacgtc ggccgtgccg ccgtcgggcg cttcgcccgc gctgcccatc ttctccatga
      241 cgctgggcgc cgtgtccaac ctgctggcgc tggcgctgct ggcgcaggcc gcgggccgcc
      301 tgcgacgccg ccgctcggcc gccaccttcc tgctgttcgt ggccagcctg ctggccaccg
      361 acctggcggg ccacgtgatc ccgggcgcgc tggtgctgcg tctgtacact gcggggcgcg
      421 ctccggccgg cggggcctgc cacttcctgg gcggctgcat ggtcttcttc ggcctgtgcc
      481 cgctgctgct gggctgtggc atggccgtgg agcgctgcgt gggcgtcacg cggccgctgc
      541 tccacgccgc gcgggtctcg gtcgcccgcg cgcgcctggc gctggccgcg gtggccgcgg
      601 tggccttggc cgtggcgctg ctgccgctgg cgcgcgtggg ccgctatgag ctgcagtacc
      661 cgggcacgtg gtgcttcatc ggcctgggtc ccccgggcgg ctggcgccag gcactgcttg
      721 ctggcctctt cgccagcctc ggcctggtcg cgctcctcgc cgcgctggtg tgcaacacgc
      781 tcagcggcct ggccctgcta cgcgcccgct ggcgacgccg ctcccgacgg cctcccccgg
      841 cctcaggccc cgacagccgg cgtcgctggg gggcgcacgg accccgctcg gcctccgcct
      901 cgtccgcctc gtccatcgct tcggcctcca ccttctttgg cggctctcgg agcagcggct
      961 cggcacgcag agctcgcgcc cacgacgtgg agatggtggg ccagcttgtc ggtatcatgg
     1021 tggtgtcgtg catctgctgg agcccaatgc tggtgttggt ggcgctggcc gtcggcggct
     1081 ggagctctac ctccctgcag cggccactgt tcctggccgt gcgccttgcc tcctggaacc
     1141 agatcctgga cccttgggtg tacatcctac tgcgccaggc cgtgctgcgc caactgcttc
     1201 gcctcttgcc cccgagggcc ggagccaagg gcggccccgc ggggctgggc ctaacaccga
     1261 gcgcctggga ggccagctcg ctgcgcagct cccggcacag cggcctcagc cacttctaag
     1321 cacaaccaga ggcccaacga ctaagccagc ccaccctggg ctgggcccag gtgcgcggcg
     1381 cagagccttt gggaataaaa agccattctg cga
//
LOCUS       NM_000956               2458 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens prostaglandin E receptor 2 (PTGER2), mRNA.
ACCESSION   NM_000956
VERSION     NM_000956.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2458)
  AUTHORS   Qiu J, Li Q, Li J, Zhou F, Sang P, Xia Z, Wang W, Wang L, Yu Y and
            Jiang J.
  TITLE     Complementary roles of EP2 and EP4 receptors in malignant glioma
  JOURNAL   Br J Pharmacol 180 (20), 2623-2640 (2023)
   PUBMED   37232020
  REMARK    GeneRIF: Complementary roles of EP2 and EP4 receptors in malignant
            glioma.
REFERENCE   2  (bases 1 to 2458)
  AUTHORS   Tofteng SS, Nilsson L, Mogensen AK, Norregaard R, Nusing R,
            Diatchikhine M, Lund L, Bistrup C, Jensen BL and Madsen K.
  TITLE     Increased COX-2 after ureter obstruction attenuates fibrosis and is
            associated with EP2 receptor upregulation in mouse and human kidney
  JOURNAL   Acta Physiol (Oxf) 235 (4), e13828 (2022)
   PUBMED   35543087
  REMARK    GeneRIF: Increased COX-2 after ureter obstruction attenuates
            fibrosis and is associated with EP2 receptor upregulation in mouse
            and human kidney.
REFERENCE   3  (bases 1 to 2458)
  AUTHORS   Ida Y, Umetsu A, Furuhashi M, Watanabe M, Hikage F and Ohguro H.
  TITLE     The EP2 agonist, omidenepag, alters the physical stiffness of 3D
            spheroids prepared from human corneal stroma fibroblasts differently
            depending on the osmotic pressure
  JOURNAL   FASEB J 36 (1), e22067 (2022)
   PUBMED   34914140
  REMARK    GeneRIF: The EP2 agonist, omidenepag, alters the physical stiffness
            of 3D spheroids prepared from human corneal stroma fibroblasts
            differently depending on the osmotic pressure.
REFERENCE   4  (bases 1 to 2458)
  AUTHORS   Desai S, April H, Nwaneshiudu C and Ashby B.
  TITLE     Comparison of agonist-induced internalization of the human EP2 and
            EP4 prostaglandin receptors: role of the carboxyl terminus in EP4
            receptor sequestration
  JOURNAL   Mol Pharmacol 58 (6), 1279-1286 (2000)
   PUBMED   11093764
REFERENCE   5  (bases 1 to 2458)
  AUTHORS   Smock SL, Pan LC, Castleberry TA, Lu B, Mather RJ and Owen TA.
  TITLE     Cloning, structural characterization, and chromosomal localization
            of the gene encoding the human prostaglandin E(2) receptor EP2
            subtype
  JOURNAL   Gene 237 (2), 393-402 (1999)
   PUBMED   10521663
REFERENCE   6  (bases 1 to 2458)
  AUTHORS   Stillman BA, Breyer MD and Breyer RM.
  TITLE     Importance of the extracellular domain for prostaglandin EP(2)
            receptor function
  JOURNAL   Mol Pharmacol 56 (3), 545-551 (1999)
   PUBMED   10462542
REFERENCE   7  (bases 1 to 2458)
  AUTHORS   Duncan AM, Anderson LL, Funk CD, Abramovitz M and Adam M.
  TITLE     Chromosomal localization of the human prostanoid receptor gene
            family
  JOURNAL   Genomics 25 (3), 740-742 (1995)
   PUBMED   7759114
REFERENCE   8  (bases 1 to 2458)
  AUTHORS   Regan JW, Bailey TJ, Pepperl DJ, Pierce KL, Bogardus AM, Donello JE,
            Fairbairn CE, Kedzie KM, Woodward DF and Gil DW.
  TITLE     Cloning of a novel human prostaglandin receptor with characteristics
            of the pharmacologically defined EP2 subtype
  JOURNAL   Mol Pharmacol 46 (2), 213-220 (1994)
   PUBMED   8078484
REFERENCE   9  (bases 1 to 2458)
  AUTHORS   Bastien L, Sawyer N, Grygorczyk R, Metters KM and Adam M.
  TITLE     Cloning, functional expression, and characterization of the human
            prostaglandin E2 receptor EP2 subtype
  JOURNAL   J Biol Chem 269 (16), 11873-11877 (1994)
   PUBMED   8163486
REFERENCE   10  (bases 1 to 2458)
  AUTHORS   An S, Yang J, Xia M and Goetzl EJ.
  TITLE     Cloning and expression of the EP2 subtype of human receptors for
            prostaglandin E2
  JOURNAL   Biochem Biophys Res Commun 197 (1), 263-270 (1993)
   PUBMED   8250933
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.277466.1, U19487.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000245457.6/ ENSP00000245457.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CR977661.1, CN484094.1,
            BC093927.1, CF132756.1, BE739744.1, U19487.1 and BM986745.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000956.3.
            Summary: This gene encodes a receptor for prostaglandin E2, a
            metabolite of arachidonic acid which has different biologic
            activities in a wide range of tissues. Mutations in this gene are
            associated with aspirin-induced susceptibility to asthma. [provided
            by RefSeq, Oct 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2458
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.1"
     gene            1..2458
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="prostaglandin E receptor 2"
                     /db_xref="GeneID:5732"
                     /db_xref="HGNC:HGNC:9594"
                     /db_xref="MIM:176804"
     misc_feature    148..150
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="upstream in-frame stop codon"
     CDS             238..1314
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="prostanoid EP2 receptor; PGE receptor EP2 subtype;
                     PGE2 receptor EP2 subtype; prostaglandin E receptor 2
                     (subtype EP2), 53kD; prostaglandin E receptor 2 (subtype
                     EP2), 53kDa"
                     /codon_start=1
                     /product="prostaglandin E2 receptor EP2 subtype"
                     /protein_id="NP_000947.2"
                     /db_xref="CCDS:CCDS9708.1"
                     /db_xref="GeneID:5732"
                     /db_xref="HGNC:HGNC:9594"
                     /db_xref="MIM:176804"
                     /translation="MGNASNDSQSEDCETRQWLPPGESPAISSVMFSAGVLGNLIALAL
                     LARRWRGDVGCSAGRRSSLSLFHVLVTELVFTDLLGTCLISPVVLASYARNQTLVALAP
                     ESRACTYFAFAMTFFSLATMLMLFAMALERYLSIGHPYFYQRRVSRSGGLAVLPVIYAV
                     SLLFCSLPLLDYGQYVQYCPGTWCFIRHGRTAYLQLYATLLLLLIVSVLACNFSVILNL
                     IRMHRRSRRSRCGPSLGSGRGGPGARRRGERVSMAEETDHLILLAIMTITFAVCSLPFT
                     IFAYMNETSSRKEKWDLQALRFLSINSIIDPWVFAILRPPVLRLMRSVLCCRISLRTQD
                     ATQTSCSTQSDASKQADL"
     misc_feature    244..246
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P43116.2); glycosylation site"
     misc_feature    253..255
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P43116.2); glycosylation site"
     misc_feature    307..378
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P43116.2);
                     transmembrane region"
     misc_feature    433..510
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P43116.2);
                     transmembrane region"
     misc_feature    523..525
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P43116.2); glycosylation site"
     misc_feature    571..633
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P43116.2);
                     transmembrane region"
     misc_feature    691..765
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P43116.2);
                     transmembrane region"
     misc_feature    832..906
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P43116.2);
                     transmembrane region"
     misc_feature    928..996
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P43116.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1024..1095
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P43116.2);
                     transmembrane region"
     misc_feature    1096..1098
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P43116.2); glycosylation site"
     misc_feature    1135..1206
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P43116.2);
                     transmembrane region"
     regulatory      2439..2444
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="hexamer: AATAAA"
     polyA_site      2458
                     /gene="PTGER2"
                     /gene_synonym="EP2"
                     /note="major polyA site"
ORIGIN
        1 gcgggtaggc gcgggagcct cgagcgccgc tcggatgcag cagccgagcc gccactcggc
       61 gcgcggcggg agacccaggg caagccgccg tcggcgcgct gggtgcggga agggggctct
      121 ggatttcggt ccctcccctt tttcctctga gtctcggaac gctccggctc tcagaccctc
      181 ttcctcccag gtaaaggccg ggagaggagg gcgcatctct tttccaggca ccccaccatg
      241 ggcaatgcct ccaatgactc ccagtctgag gactgcgaga cgcgacagtg gcttccccca
      301 ggcgaaagcc cagccatcag ctccgtcatg ttctcggccg gggtgctggg gaacctcata
      361 gcactggcgc tgctggcgcg ccgctggcgg ggggacgtgg ggtgcagcgc cggccgcagg
      421 agctccctct ccttgttcca cgtgctggtg accgagctgg tgttcaccga cctgctcggg
      481 acctgcctca tcagcccagt ggtactggct tcgtacgcgc ggaaccagac cctggtggca
      541 ctggcgcccg agagccgcgc gtgcacctac ttcgctttcg ccatgacctt cttcagcctg
      601 gccacgatgc tcatgctctt cgccatggcc ctggagcgct acctctcgat cgggcacccc
      661 tacttctacc agcgccgcgt ctcgcgctcc gggggcctgg ccgtgctgcc tgtcatctat
      721 gcagtctccc tgctcttctg ctcgctgccg ctgctggact atgggcagta cgtccagtac
      781 tgccccggga cctggtgctt catccggcac gggcggaccg cttacctgca gctgtacgcc
      841 accctgctgc tgcttctcat tgtctcggtg ctcgcctgca acttcagtgt cattctcaac
      901 ctcatccgca tgcaccgccg aagccggaga agccgctgcg gaccttccct gggcagtggc
      961 cggggcggcc ccggggcccg caggagaggg gaaagggtgt ccatggcgga ggagacggac
     1021 cacctcattc tcctggctat catgaccatc accttcgccg tctgctcctt gcctttcacg
     1081 atttttgcat atatgaatga aacctcttcc cgaaaggaaa aatgggacct ccaagctctt
     1141 aggtttttat caattaattc aataattgac ccttgggtct ttgccatcct taggcctcct
     1201 gttctgagac taatgcgttc agtcctctgt tgtcggattt cattaagaac acaagatgca
     1261 acacaaactt cctgttctac acagtcagat gccagtaaac aggctgacct ttgaggtcag
     1321 tagtttaaaa gttcttagtt atatagcatc tggaagatca ttttgaaatt gttccttgga
     1381 gaaatgaaaa cagtgtgtaa acaaaatgaa gctgccctaa taaaaaggag tatacaaaca
     1441 tttaagctgt ggtcaaggct acagatgtgc tgacaaggca cttcatgtaa agtgtcagaa
     1501 ggagctacaa aacctaccct cagtgagcat ggtacttggc ctttggagga acaatcggct
     1561 gcattgaaga tccagctgcc tattgattta agctttcctg ttgaatgaca aagtatgtgg
     1621 ttttgtaatt tgtttgaaac cccaaacagt gactgtactt tctattttaa tcttgctact
     1681 accgttatac acatatagtg tacagccaga ccagattaaa cttcatatgt aatctctagg
     1741 aagtcaatat gtggaagcaa ccaagcctgc tgtcttgtga tcacttagcg aaccctttat
     1801 ttgaacaatg aagttgaaaa tcataggcac cttttactgt gatgtttgtg tatgtgggag
     1861 tactctcatc actacagtat tactcttaca agagtggact cagtgggtta acatcagttt
     1921 tgtttactca tcctccagga actgcaggtc aagttgtcag gttatttatt ttataatgtc
     1981 catatgctaa tagtgatcaa gaagacttta ggaatggttc tctcaacaag aaataataga
     2041 aatgtctcaa ggcagttaat tctcattaat actctttatt tatcctattt ctgggggagg
     2101 atgtacgtgg ccatgtatga agccaaatat taggcttaaa aactgaaaaa tctggttcat
     2161 tcttcagata tactggaacc cttttaaagt tgatattggg gccatgagta aaatagattt
     2221 tataagatga ctgtgttgta ccaaaattca tctgtctata ttttatttag ggaacatggt
     2281 ttgactcatc ttatatggga aaccatgtag cagtgagtca tatcttaata tatttctaaa
     2341 tgtttggcat gtaaatgtaa actcagcatc aaaatatttc agtgaatttg cactgtttaa
     2401 tcatagttac tgtgtaaact catctgaaat gttacaaaaa taaactataa aacaaaaa
//
LOCUS       NM_000958               3431 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens prostaglandin E receptor 4 (PTGER4), mRNA.
ACCESSION   NM_000958
VERSION     NM_000958.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3431)
  AUTHORS   Qiu J, Li Q, Li J, Zhou F, Sang P, Xia Z, Wang W, Wang L, Yu Y and
            Jiang J.
  TITLE     Complementary roles of EP2 and EP4 receptors in malignant glioma
  JOURNAL   Br J Pharmacol 180 (20), 2623-2640 (2023)
   PUBMED   37232020
  REMARK    GeneRIF: Complementary roles of EP2 and EP4 receptors in malignant
            glioma.
REFERENCE   2  (bases 1 to 3431)
  AUTHORS   Yu S, Tu R, Chen Z, Song J, Li P, Hu F, Yuan G, Zhang R and Li Y.
  TITLE     Association of PTGER4 and PRKAA1 genetic polymorphisms with gastric
            cancer
  JOURNAL   BMC Med Genomics 16 (1), 209 (2023)
   PUBMED   37670284
  REMARK    GeneRIF: Association of PTGER4 and PRKAA1 genetic polymorphisms with
            gastric cancer. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3431)
  AUTHORS   Mashimo M, Shimizu A, Mori A, Hamaguchi A, Fukushima K, Seira N,
            Fujii T and Fujino H.
  TITLE     PARP14 regulates EP4 receptor expression in human colon cancer HCA-7
            cells
  JOURNAL   Biochem Biophys Res Commun 623, 133-139 (2022)
   PUBMED   35914351
  REMARK    GeneRIF: PARP14 regulates EP4 receptor expression in human colon
            cancer HCA-7 cells.
REFERENCE   4  (bases 1 to 3431)
  AUTHORS   Xu H, Fang B, Bao C, Mao X, Zhu C, Ye L, Liu Q, Li Y, Du C, Qi H,
            Zhang X and Guan Y.
  TITLE     The Prostaglandin E2 Receptor EP4 Promotes Vascular Neointimal
            Hyperplasia through Translational Control of Tenascin C via the
            cAPM/PKA/mTORC1/rpS6 Pathway
  JOURNAL   Cells 11 (17), 2720 (2022)
   PUBMED   36078128
  REMARK    GeneRIF: The Prostaglandin E2 Receptor EP4 Promotes Vascular
            Neointimal Hyperplasia through Translational Control of Tenascin C
            via the cAPM/PKA/mTORC1/rpS6 Pathway. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 3431)
  AUTHORS   Feddersen UR, Hendel SK, Berner-Hansen MA, Jepps TA, Berner-Hansen M
            and Bindslev N.
  TITLE     Nanomolar EP4 receptor potency and expression of eicosanoid-related
            enzymes in normal appearing colonic mucosa from patients with
            colorectal neoplasia
  JOURNAL   BMC Gastroenterol 22 (1), 234 (2022)
   PUBMED   35549670
  REMARK    GeneRIF: Nanomolar EP4 receptor potency and expression of
            eicosanoid-related enzymes in normal appearing colonic mucosa from
            patients with colorectal neoplasia. Erratum:[BMC Gastroenterol. 2022
            Jun 17;22(1):298. PMID: 35715746] Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3431)
  AUTHORS   Foord SM, Marks B, Stolz M, Bufflier E, Fraser NJ and Lee MG.
  TITLE     The structure of the prostaglandin EP4 receptor gene and related
            pseudogenes
  JOURNAL   Genomics 35 (1), 182-188 (1996)
   PUBMED   8661119
REFERENCE   7  (bases 1 to 3431)
  AUTHORS   Duncan AM, Anderson LL, Funk CD, Abramovitz M and Adam M.
  TITLE     Chromosomal localization of the human prostanoid receptor gene
            family
  JOURNAL   Genomics 25 (3), 740-742 (1995)
   PUBMED   7759114
REFERENCE   8  (bases 1 to 3431)
  AUTHORS   Regan JW, Bailey TJ, Pepperl DJ, Pierce KL, Bogardus AM, Donello JE,
            Fairbairn CE, Kedzie KM, Woodward DF and Gil DW.
  TITLE     Cloning of a novel human prostaglandin receptor with characteristics
            of the pharmacologically defined EP2 subtype
  JOURNAL   Mol Pharmacol 46 (2), 213-220 (1994)
   PUBMED   8078484
REFERENCE   9  (bases 1 to 3431)
  AUTHORS   Bastien L, Sawyer N, Grygorczyk R, Metters KM and Adam M.
  TITLE     Cloning, functional expression, and characterization of the human
            prostaglandin E2 receptor EP2 subtype
  JOURNAL   J Biol Chem 269 (16), 11873-11877 (1994)
   PUBMED   8163486
REFERENCE   10  (bases 1 to 3431)
  AUTHORS   An S, Yang J, Xia M and Goetzl EJ.
  TITLE     Cloning and expression of the EP2 subtype of human receptors for
            prostaglandin E2
  JOURNAL   Biochem Biophys Res Commun 197 (1), 263-270 (1993)
   PUBMED   8250933
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.2343316.1,
            SRR11853567.23867.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000302472.4/ ENSP00000302846.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093264.2, BC027934.1,
            L28175.1, BM312677.1, CD000197.1 and BQ029720.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000958.2.
            Summary: The protein encoded by this gene is a member of the
            G-protein coupled receptor family. This protein is one of four
            receptors identified for prostaglandin E2 (PGE2). This receptor can
            activate T-cell factor signaling. It has been shown to mediate PGE2
            induced expression of early growth response 1 (EGR1), regulate the
            level and stability of cyclooxygenase-2 mRNA, and lead to the
            phosphorylation of glycogen synthase kinase-3. Knockout studies in
            mice suggest that this receptor may be involved in the neonatal
            adaptation of circulatory system, osteoporosis, as well as
            initiation of skin immune responses. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3431
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.1"
     gene            1..3431
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="prostaglandin E receptor 4"
                     /db_xref="GeneID:5734"
                     /db_xref="HGNC:HGNC:9596"
                     /db_xref="MIM:601586"
     misc_feature    536..538
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="upstream in-frame stop codon"
     CDS             608..2074
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="PGE receptor, EP4 subtype; prostanoid EP4 receptor;
                     PGE2 receptor EP4 subtype; prostaglandin E receptor 4
                     (subtype EP4)"
                     /codon_start=1
                     /product="prostaglandin E2 receptor EP4 subtype"
                     /protein_id="NP_000949.1"
                     /db_xref="CCDS:CCDS3930.1"
                     /db_xref="GeneID:5734"
                     /db_xref="HGNC:HGNC:9596"
                     /db_xref="MIM:601586"
                     /translation="MSTPGVNSSASLSPDRLNSPVTIPAVMFIFGVVGNLVAIVVLCKS
                     RKEQKETTFYTLVCGLAVTDLLGTLLVSPVTIATYMKGQWPGGQPLCEYSTFILLFFSL
                     SGLSIICAMSVERYLAINHAYFYSHYVDKRLAGLTLFAVYASNVLFCALPNMGLGSSRL
                     QYPDTWCFIDWTTNVTAHAAYSYMYAGFSSFLILATVLCNVLVCGALLRMHRQFMRRTS
                     LGTEQHHAAAAASVASRGHPAASPALPRLSDFRRRRSFRRIAGAEIQMVILLIATSLVV
                     LICSIPLVVRVFVNQLYQPSLEREVSKNPDLQAIRIASVNPILDPWIYILLRKTVLSKA
                     IEKIKCLFCRIGGSRRERSGQHCSDSQRTSSAMSGHSRSFISRELKEISSTSQTLLPDL
                     SLPDLSENGLGGRNLLPGVPGMGLAQEDTTSLRTLRISETSDSSQGQDSESVLLVDEAG
                     GSGRAGPAPKGSSLQVTFPSETLNLSEKCI"
     misc_feature    626..628
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P35408.1); glycosylation site"
     misc_feature    665..736
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P35408.1);
                     transmembrane region"
     misc_feature    773..844
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P35408.1);
                     transmembrane region"
     misc_feature    896..952
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P35408.1);
                     transmembrane region"
     misc_feature    1013..1087
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P35408.1);
                     transmembrane region"
     misc_feature    1160..1240
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P35408.1);
                     transmembrane region"
     misc_feature    1409..1492
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P35408.1);
                     transmembrane region"
     misc_feature    1544..1603
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P35408.1);
                     transmembrane region"
     misc_feature    1673..1735
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P35408.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1727..1729
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14709160; propagated from
                     UniProtKB/Swiss-Prot (P35408.1); phosphorylation site"
     misc_feature    1736..1738
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14709160; propagated from
                     UniProtKB/Swiss-Prot (P35408.1); phosphorylation site"
     misc_feature    1742..1744
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14709160; propagated from
                     UniProtKB/Swiss-Prot (P35408.1); phosphorylation site"
     misc_feature    1751..1753
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14709160; propagated from
                     UniProtKB/Swiss-Prot (P35408.1); phosphorylation site"
     misc_feature    1916..2032
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P35408.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3413..3418
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="hexamer: AATAAA"
     polyA_site      3431
                     /gene="PTGER4"
                     /gene_synonym="EP4; EP4R"
                     /note="major polyA site"
ORIGIN
        1 acagagggtg gaaaggcgag agcggagctc caagcccggc agcccgagag gaagatgaac
       61 agccccaggc cagagcctct ggcagagtgg accccgagcc gcccccaggt agccaggagc
      121 ggcctcagcg gcagccgcaa actccagtag ccgcccgtgc tgcccgtggc tggggcggag
      181 ggcagccaga gctggggacc aaggctccgc gccacctgcg cgcacagcct cacacctgaa
      241 cgctgtcctc ccgcagacga gaccggcggg cactgcaaag ctgggactcg tctttgaagg
      301 aaaaaaaata gcgagtaaga aatccagcac cattcttcac tgacccatcc cgctgcacct
      361 cttgtttccc aagtttttga aagctggcaa ctctgacctc ggtgtccaaa aatcgacagc
      421 cactgagacc ggctttgaga agccgaagat ttggcagttt ccagactgag caggacaagg
      481 tgaaagcagg ttggaggcgg gtccaggaca tctgagggct gaccctgggg gctcgtgagg
      541 ctgccaccgc tgctgccgct acagacccag ccttgcactc caaggctgcg caccgccagc
      601 cactatcatg tccactcccg gggtcaattc gtccgcctcc ttgagccccg accggctgaa
      661 cagcccagtg accatcccgg cggtgatgtt catcttcggg gtggtgggca acctggtggc
      721 catcgtggtg ctgtgcaagt cgcgcaagga gcagaaggag acgaccttct acacgctggt
      781 atgtgggctg gctgtcaccg acctgttggg cactttgttg gtgagcccgg tgaccatcgc
      841 cacgtacatg aagggccaat ggcccggggg ccagccgctg tgcgagtaca gcaccttcat
      901 tctgctcttc ttcagcctgt ccggcctcag catcatctgc gccatgagtg tcgagcgcta
      961 cctggccatc aaccatgcct atttctacag ccactacgtg gacaagcgat tggcgggcct
     1021 cacgctcttt gcagtctatg cgtccaacgt gctcttttgc gcgctgccca acatgggtct
     1081 cggtagctcg cggctgcagt acccagacac ctggtgcttc atcgactgga ccaccaacgt
     1141 gacggcgcac gccgcctact cctacatgta cgcgggcttc agctccttcc tcattctcgc
     1201 caccgtcctc tgcaacgtgc ttgtgtgcgg cgcgctgctc cgcatgcacc gccagttcat
     1261 gcgccgcacc tcgctgggca ccgagcagca ccacgcggcc gcggccgcct cggttgcctc
     1321 ccggggccac cccgctgcct ccccagcctt gccgcgcctc agcgactttc ggcgccgccg
     1381 gagcttccgc cgcatcgcgg gcgccgagat ccagatggtc atcttactca ttgccacctc
     1441 cctggtggtg ctcatctgct ccatcccgct cgtggtgcga gtattcgtca accagttata
     1501 tcagccaagt ttggagcgag aagtcagtaa aaatccagat ttgcaggcca tccgaattgc
     1561 ttctgtgaac cccatcctag acccctggat atatatcctc ctgagaaaga cagtgctcag
     1621 taaagcaata gagaagatca aatgcctctt ctgccgcatt ggcgggtccc gcagggagcg
     1681 ctccggacag cactgctcag acagtcaaag gacatcttct gccatgtcag gccactctcg
     1741 ctccttcatc tcccgggagc tgaaggagat cagcagtaca tctcagaccc tcctgccaga
     1801 cctctcactg ccagacctca gtgaaaatgg ccttggaggc aggaatttgc ttccaggtgt
     1861 gcctggcatg ggcctggccc aggaagacac cacctcactg aggactttgc gaatatcaga
     1921 gacctcagac tcttcacagg gtcaggactc agagagtgtc ttactggtgg atgaggctgg
     1981 tgggagcggc agggctgggc ctgcccctaa ggggagctcc ctgcaagtca catttcccag
     2041 tgaaacactg aacttatcag aaaaatgtat ataataggca aggaaagaaa tacagtactg
     2101 tttctggacc cttataaaat cctgtgcaat agacacatac atgtcacatt tagctgtgct
     2161 cagaagggct atcatcatcc tacaactcac attagagaac atcctggctt ttgagcactt
     2221 ttcaaacaat caagttgact cacgtgggtc ctgaggcctg cagcacgtcg gatgctaccc
     2281 cactatgaca gaggattgtg gtcacaactt gatggctgcg aagacctacc ctccgttttt
     2341 ctactagata ggaggatggt agaagtttgg ctgctgtcat aacatccaga gctttgtcgt
     2401 atttggcaca cagcagaggc ccagatatta gaaaggctct attccaataa actatgagga
     2461 ctgccttatg gatgatttaa gtgtctcact aaagcatgaa atgtgaattt ttattgttgt
     2521 acatacgatt taaggtattt aaagtatttt cttctctgtg agaaggttta ttgttaatac
     2581 aaggtataat aaaattatcg caacccctct ccttccagta taaccagctg aagttgcaga
     2641 tgttagatat ttttcataaa caagttcgag tcaaagttga aaattcatag taagattgat
     2701 atctataaaa tagatataaa tttttaagag aaagaattta gtattatcaa agggataaag
     2761 aaaaaaatac tatttaagat gtgaaaatta cagtccaaaa tactgttctt tccaggctat
     2821 gtataaaata catagtgaaa attgtttagt gatattacat ttatttatcc agaaaactgt
     2881 gatttcagga gaacctaaca tgctggtgaa tattttcaac tttttccctc actaattggt
     2941 acttttaaaa acataacata aattttttga agtctttaat aaataaccca taattgaagt
     3001 gtataatata aaaaatttta aaaatctaag cagcttattg tttctctgaa agtgtgtgta
     3061 gttttacttt cctaaggaat taccaagaat atcctttaaa atttaaaagg atggcaagtt
     3121 gcatcagaaa gctttatttt gagatgtaaa aagattccca aacgtggtta cattagccat
     3181 tcatgtatgt cagaagtgca gaattggggc acttaatggt caccttgtaa cagttttgtg
     3241 taactcccag tgatgctgta cacatatttg aagggtcttt ctcaaagaaa tattaagcat
     3301 gttttgttgc tcagtgtttt tgtgaattgc ttggttgtaa ttaaattctg agcctgatat
     3361 tgatatggtt ttaagaagca gttgtaccaa gtgaaattat tttggagatt ataataaata
     3421 tatacattca a
//
LOCUS       NM_000959               5429 bp    mRNA    linear   PRI 23-MAY-2023
DEFINITION  Homo sapiens prostaglandin F receptor (PTGFR), transcript variant 1,
            mRNA.
ACCESSION   NM_000959
VERSION     NM_000959.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5429)
  AUTHORS   Wu C, Xu Y, He Q, Li D, Duan J, Li C, You C, Chen H, Fan W, Jiang Y
            and Eric Xu H.
  TITLE     Ligand-induced activation and G protein coupling of prostaglandin
            F2alpha receptor
  JOURNAL   Nat Commun 14 (1), 2668 (2023)
   PUBMED   37160891
  REMARK    GeneRIF: Ligand-induced activation and G protein coupling of
            prostaglandin F2alpha receptor. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5429)
  AUTHORS   Xu X, Wang B, Chen Y, Zhou W and Li L.
  TITLE     Replicative verification of susceptibility genes previously
            identified from families with segregating developmental dysplasia of
            the hip
  JOURNAL   Ital J Pediatr 47 (1), 140 (2021)
   PUBMED   34174923
  REMARK    GeneRIF: Replicative verification of susceptibility genes previously
            identified from families with segregating developmental dysplasia of
            the hip. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5429)
  AUTHORS   Wang Y, Yan S, Xiao B, Zuo S, Zhang Q, Chen G, Yu Y, Chen D, Liu Q,
            Liu Y, Shen Y and Yu Y.
  TITLE     Prostaglandin F2alpha Facilitates Hepatic Glucose Production Through
            CaMKIIgamma/p38/FOXO1 Signaling Pathway in Fasting and Obesity
  JOURNAL   Diabetes 67 (9), 1748-1760 (2018)
   PUBMED   29773555
  REMARK    GeneRIF: Data, including data from studies using transgenic mice,
            suggest that signaling via prostaglandin-F2alpha/PTGFR and
            Camk2g/p38/Foxo1 MAP kinase/calcium pathways are involved in
            regulation of hepatic gluconeogenesis in both obesity and fasting.
            (PTGFR = prostaglandin F2alpha receptor; Camk2g =
            calcium-calmodulin-dependent protein kinase type 2 gamma; p38 = p38
            MAP kinase; Foxo1 = forkhead box transcription factor O1)
REFERENCE   4  (bases 1 to 5429)
  AUTHORS   Sleno R, Devost D, Petrin D, Zhang A, Bourque K, Shinjo Y, Aoki J,
            Inoue A and Hebert TE.
  TITLE     Conformational biosensors reveal allosteric interactions between
            heterodimeric AT1 angiotensin and prostaglandin F2alpha receptors
  JOURNAL   J Biol Chem 292 (29), 12139-12152 (2017)
   PUBMED   28584054
  REMARK    GeneRIF: Data suggest that allosteric communication between
            heterodimeric AT1R and PTGFR is mediated through GNAQ and may also
            involve proximal phospholipase C but not distal protein kinase C
            signaling partners; PTGFR activation has negligible effects on
            AT1R-based conformational biosensors. (AT1R = angiotensin II
            receptor, type 1; PTGFR = prostaglandin F2alpha receptor; GNAQ =
            GTP-binding protein G[q] subunit alpha)
REFERENCE   5  (bases 1 to 5429)
  AUTHORS   Cui XJ, Zhao AG and Wang XL.
  TITLE     Correlations of AFAP1, GMDS and PTGFR gene polymorphisms with
            intra-ocular pressure response to latanoprost in patients with
            primary open-angle glaucoma
  JOURNAL   J Clin Pharm Ther 42 (1), 87-92 (2017)
   PUBMED   27862086
  REMARK    GeneRIF: The genotype frequencies of six SNPs in AFAP1, GMDS and
            PTGFR genes were conformed to Hardy-Weinberg equilibrium (HWE).
REFERENCE   6  (bases 1 to 5429)
  AUTHORS   Duncan AM, Anderson LL, Funk CD, Abramovitz M and Adam M.
  TITLE     Chromosomal localization of the human prostanoid receptor gene
            family
  JOURNAL   Genomics 25 (3), 740-742 (1995)
   PUBMED   7759114
REFERENCE   7  (bases 1 to 5429)
  AUTHORS   Lake S, Gullberg H, Wahlqvist J, Sjogren AM, Kinhult A, Lind P,
            Hellstrom-Lindahl E and Stjernschantz J.
  TITLE     Cloning of the rat and human prostaglandin F2 alpha receptors and
            the expression of the rat prostaglandin F2 alpha receptor
  JOURNAL   FEBS Lett 355 (3), 317-325 (1994)
   PUBMED   7988697
REFERENCE   8  (bases 1 to 5429)
  AUTHORS   Bastien L, Sawyer N, Grygorczyk R, Metters KM and Adam M.
  TITLE     Cloning, functional expression, and characterization of the human
            prostaglandin E2 receptor EP2 subtype
  JOURNAL   J Biol Chem 269 (16), 11873-11877 (1994)
   PUBMED   8163486
REFERENCE   9  (bases 1 to 5429)
  AUTHORS   Abramovitz M, Boie Y, Nguyen T, Rushmore TH, Bayne MA, Metters KM,
            Slipetz DM and Grygorczyk R.
  TITLE     Cloning and expression of a cDNA for the human prostanoid FP
            receptor
  JOURNAL   J Biol Chem 269 (4), 2632-2636 (1994)
   PUBMED   8300593
REFERENCE   10  (bases 1 to 5429)
  AUTHORS   Funk CD, Furci L, FitzGerald GA, Grygorczyk R, Rochette C, Bayne MA,
            Abramovitz M, Adam M and Metters KM.
  TITLE     Cloning and expression of a cDNA for the human prostaglandin E
            receptor EP1 subtype
  JOURNAL   J Biol Chem 268 (35), 26767-26772 (1993)
   PUBMED   8253813
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.38271.1,
            SRR1803614.169721.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370757.8/ ENSP00000359793.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136324.6 and BC112965.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000959.3.
            Summary: The protein encoded by this gene is member of the
            G-protein coupled receptor family. This protein is a receptor for
            prostaglandin F2-alpha (PGF2-alpha), which is known to be a potent
            luteolytic agent, and may also be involved in modulating
            intraocular pressure and smooth muscle contraction in uterus.
            Knockout studies in mice suggest that the interaction of PGF2-alpha
            with this receptor may initiate parturition in ovarian luteal cells
            and thus induce luteolysis. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5429
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     gene            1..5429
                     /gene="PTGFR"
                     /gene_synonym="FP"
                     /note="prostaglandin F receptor"
                     /db_xref="GeneID:5737"
                     /db_xref="HGNC:HGNC:9600"
                     /db_xref="MIM:600563"
     misc_feature    303..305
                     /gene="PTGFR"
                     /gene_synonym="FP"
                     /note="upstream in-frame stop codon"
     CDS             336..1415
                     /gene="PTGFR"
                     /gene_synonym="FP"
                     /note="isoform a precursor is encoded by transcript variant
                     1; prostanoid FP receptor; prostaglandin receptor
                     (2-alpha); PGF receptor; PGF2 alpha receptor; prostaglandin
                     F2-alpha receptor; FP prostanoid receptor"
                     /codon_start=1
                     /product="prostaglandin F2-alpha receptor isoform a
                     precursor"
                     /protein_id="NP_000950.1"
                     /db_xref="CCDS:CCDS686.1"
                     /db_xref="GeneID:5737"
                     /db_xref="HGNC:HGNC:9600"
                     /db_xref="MIM:600563"
                     /translation="MSMNNSKQLVSPAAALLSNTTCQTENRLSVFFSVIFMTVGILSNS
                     LAIAILMKAYQRFRQKSKASFLLLASGLVITDFFGHLINGAIAVFVYASDKEWIRFDQS
                     NVLCSIFGICMVFSGLCPLLLGSVMAIERCIGVTKPIFHSTKITSKHVKMMLSGVCLFA
                     VFIALLPILGHRDYKIQASRTWCFYNTEDIKDWEDRFYLLLFSFLGLLALGVSLLCNAI
                     TGITLLRVKFKSQQHRQGRSHHLEMVIQLLAIMCVSCICWSPFLVTMANIGINGNHSLE
                     TCETTLFALRMATWNQILDPWVYILLRKAVLKNLYKLASQCCGVHVISLHIWELSSIKN
                     SLKVAAISESPVAEKSAST"
     sig_peptide     336..410
                     /gene="PTGFR"
                     /gene_synonym="FP"
     misc_feature    345..347
                     /gene="PTGFR"
                     /gene_synonym="FP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P43088.1); glycosylation site"
     misc_feature    390..392
                     /gene="PTGFR"
                     /gene_synonym="FP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P43088.1); glycosylation site"
     mat_peptide     411..1412
                     /gene="PTGFR"
                     /gene_synonym="FP"
                     /product="prostaglandin F2-alpha receptor isoform a"
     misc_feature    429..497
                     /gene="PTGFR"
                     /gene_synonym="FP"
                     /note="propagated from UniProtKB/Swiss-Prot (P43088.1);
                     transmembrane region"
     misc_feature    543..605
                     /gene="PTGFR"
                     /gene_synonym="FP"
                     /note="propagated from UniProtKB/Swiss-Prot (P43088.1);
                     transmembrane region"
     misc_feature    663..728
                     /gene="PTGFR"
                     /gene_synonym="FP"
                     /note="propagated from UniProtKB/Swiss-Prot (P43088.1);
                     transmembrane region"
     misc_feature    792..860
                     /gene="PTGFR"
                     /gene_synonym="FP"
                     /note="propagated from UniProtKB/Swiss-Prot (P43088.1);
                     transmembrane region"
     misc_feature    930..1007
                     /gene="PTGFR"
                     /gene_synonym="FP"
                     /note="propagated from UniProtKB/Swiss-Prot (P43088.1);
                     transmembrane region"
     misc_feature    1086..1136
                     /gene="PTGFR"
                     /gene_synonym="FP"
                     /note="propagated from UniProtKB/Swiss-Prot (P43088.1);
                     transmembrane region"
     misc_feature    1191..1256
                     /gene="PTGFR"
                     /gene_synonym="FP"
                     /note="propagated from UniProtKB/Swiss-Prot (P43088.1);
                     transmembrane region"
     regulatory      4458..4463
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTGFR"
                     /gene_synonym="FP"
                     /note="hexamer: AATAAA"
     polyA_site      4477
                     /gene="PTGFR"
                     /gene_synonym="FP"
                     /note="major polyA site"
     regulatory      5409..5414
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTGFR"
                     /gene_synonym="FP"
                     /note="hexamer: AATGAA"
     polyA_site      5429
                     /gene="PTGFR"
                     /gene_synonym="FP"
ORIGIN
        1 actcgcgcgc cccatccctc ccaggctgcc agcgcagcta ggtgcagagg gatcccagga
       61 gccgcgcgcg ccccgcagtt tccgcgctaa gggaacgagt gcgcggaggg gacgagcggc
      121 tggaccacag ccggcgcccg atcaggatct ccgcgctggg atcggtggaa cttgaggcag
      181 cggcggcgcg gggcgccatg gcacaccgag cggctccgtc ttctgctcct cagagagccc
      241 ggctggcggc ctgggatgac aagatgtctg gactgcaatc ctgcacagtt ttgagaggga
      301 gatgacttga gtggttggct tttatctcca caacaatgtc catgaacaat tccaaacagc
      361 tagtgtctcc tgcagctgcg cttctttcaa acacaacctg ccagacggaa aaccggcttt
      421 ccgtattttt ttcagtaatc ttcatgacag tgggaatctt gtcaaacagc cttgccatcg
      481 ccattctcat gaaggcatat cagagattta gacagaagtc caaggcatcg tttctgcttt
      541 tggccagtgg cctggtaatc actgatttct ttggccatct catcaatgga gccatagcag
      601 tatttgtata tgcttctgat aaagaatgga tccgctttga ccaatcaaat gtcctttgca
      661 gtatttttgg tatctgcatg gtgttttctg gtctgtgccc acttcttcta ggcagtgtga
      721 tggccattga gcggtgtatt ggagtcacaa aaccaatatt tcattctacg aaaattacat
      781 ccaaacatgt gaaaatgatg ttaagtggtg tgtgcttgtt tgctgttttc atagctttgc
      841 tgcccatcct tggacatcga gactataaaa ttcaggcgtc gaggacctgg tgtttctaca
      901 acacagaaga catcaaagac tgggaagata gattttatct tctacttttt tcttttctgg
      961 ggctcttagc ccttggtgtt tcattgttgt gcaatgcaat cacaggaatt acacttttaa
     1021 gagttaaatt taaaagtcag cagcacagac aaggcagatc tcatcatttg gaaatggtaa
     1081 tccagctcct ggcgataatg tgtgtctcct gtatttgttg gagcccattt ctggttacaa
     1141 tggccaacat tggaataaat ggaaatcatt ctctggaaac ctgtgaaaca acactttttg
     1201 ctctccgaat ggcaacatgg aatcaaatct tagatccttg ggtatatatt cttctacgaa
     1261 aggctgtcct taagaatctc tataagcttg ccagtcaatg ctgtggagtg catgtcatca
     1321 gcttacatat ttgggagctt agttccatta aaaattcctt aaaggttgct gctatttctg
     1381 agtcaccagt tgcagagaaa tcagcaagca cctagcttaa taggacagta aatctgtgtg
     1441 gggctagaac aaaattaaga catgtttggc aatatttcag ttagttaaat acctgtagcc
     1501 taactggaaa attcaggctt catcatgtag tttgaagata ctattgtcag attcaggttt
     1561 tgaaatttgt caaataaaca ggataactgt acatttttca cttgtttttg ccaatgggag
     1621 gtagacacaa taaaataatg ccatgggagt cacactgaaa gcaattttga gcttatctgt
     1681 cttatttatg ctttgagtga atcatctgtt gaggtctaat gcctttactt ggcctatttg
     1741 ccagagaaca tcttaatgca gcctgcatag tgaaatggtt attttgagat caccgctctg
     1801 tagctaaccc ttataaacta ggctcagtaa aataaagcac tcttattttt tgatctggcc
     1861 tattttgccc ctcattgtgt agcctcaatt aacacatgca tggtcatgac acccagaatt
     1921 catgatggtt tgttataaca acctctgcat attccaggtc tggcagacag gttgcctgac
     1981 cctgcaatcc tatctagaat gggcccattc ttgtcatatt tgacaaatag gactgcctac
     2041 atttattatt atgaaggtcg attgttgttg gaagtgtttt ttcatgtcat agattagcaa
     2101 ttttcaaata attatttttt ctctgaaaat tttgtgtgtg attgcacaat aaataatttt
     2161 tagagaaaca aaggctcttt ctcagcacat tgatgggcaa ctagaattac agcagtttca
     2221 aaactctacc atggataatg caaacaaacc gaagctacat gccaatgata ggtgcaaaga
     2281 atattggcaa aaggtgcttt accttgagcc attatttgtg tcagagaaca aaagaaacag
     2341 aatcaatata taaaattcaa agactatctg cagctagtgt gtttcttctt tacacacata
     2401 tacacacaga catcagaaaa ttctgttgag agcaggttca ttaaatttgt aagatggcat
     2461 attctaaagc ctgtgctacc agtactaaga ggggaagact ggcaatttgc caagcacttg
     2521 gggattatta taacaattaa ctaggagatc aagagataat aatctctccc caaattttcc
     2581 aataataatt gagacttttt ctttgcttgt ttgtgtaatt caaccaaaag aatttcaata
     2641 cccattcaaa ttgtcctagg tctatcagaa attagggaag gtagtcctgc tttataatag
     2701 gaaaatgtat ttctgtataa gagttctttg ctttcattaa cttggattca tttaaaaatt
     2761 aatcttccct gttaggctga tttcagattc tctaggaaat ctgtgtaagt aaccagaaga
     2821 cctttcagat ggtttatttg ctttcagcag agaatttatt tcatacagtt acttaagagt
     2881 gttgatgtct tgtgaacaga gatataagga accattctcc atccttcctt atcatgctgg
     2941 gtacaatgct tctatgaata tttccatgta ttttgactgg ggagaggcat ggagaagaaa
     3001 ctctcattca ggggctccag gatccttctc cttgaggctt ctaaataaat ggcagaattc
     3061 ttgctgtatt gccatgatgt caccctggcc atgtgtactg acttgaggag atcttgcaac
     3121 atggccatgt gcaaggcttt aaggagtgag agagatgtgt acatatctta ggagggttat
     3181 ctatgttatc tgagtatatg tttgggtaac caaattggtc ttaaaaatga tgttaaccca
     3241 agaagtagac atcaaaaatt aaaaaaaaaa aaaggaatgt gttttcattg ttttaagttt
     3301 ttcttctgag taaaacaaaa ttatagaaaa caaatgcaac aatgtgcaca tctgacttaa
     3361 gagtttcatt tctgttatta tatgtgttgc atgtagcttg gcgatttact gtgtaatgaa
     3421 taatagactg gaacatctac caataacttt cacataaatg ttcaaaatag aagtgtattt
     3481 tttcaggttt ctggaaataa atagtaaaat aaatggcaca aatagtttca ataaatttac
     3541 caatttgagt gttttcagct ctatttcaaa actcataact aatcttcaga attactgaat
     3601 ttccttttga actgggtaag gcattatcca agcaacttca catactattt aaacatgatt
     3661 tctcggtaat tatatattct gggcaaataa cataaacatg tcaggatttt tacaggtgtt
     3721 agtgaatttt tctaaaaaga tgagacaaaa gcaaaaatat cacacatagg tttttatgac
     3781 tatgaataca aagataatgc tgattcacaa ttagctatgg gtaagtccaa aacatcagac
     3841 cttttactga tgggttaact aggtgaaaga aatgggccct tatttttttt tttccctaga
     3901 ggcagaaagt tacttctaat gatctatata gctaaaacga aaaatacctg aaagttaata
     3961 catacatatg tagatatatt ttgttatgtg ataaatgttt cttgtttgca cacttttgga
     4021 cttgagaaat ctgcttttgt tttgtgccta ctctgagttt agaacccaaa taagaggact
     4081 tgttaaatat agagtgtact ttttgttaaa actattgcta gcttcacctg tataccatca
     4141 ttgttccaaa ttaaataact gttttgggtc agaatataaa tgctgggaat atacatttta
     4201 ttacttctta atctgggtgt caaagatttt accacctggt aaataatgtt ggacttcaac
     4261 ttgttactgg cacattttaa tagtagatga aacatgtttt tcttggttat gtgaataaat
     4321 gtatgttgtg ctcttcatac ttgttggatt gtatagagat taaatagtga tatgtatatt
     4381 ttgttgtttg ctttggtatg caactcatgt aattttagtg ctttgactag cttaaaactt
     4441 caaacaagta attttataat aaagttggac taatgttttt caagagtgat tatttttaga
     4501 aggaccatat aaaacttgaa acgcttgaac ctaaactccc gttttatctg ctactggatg
     4561 agaagaattt caacttaatt tccattatta ccttttgctc tcccaccctg cccaatcttc
     4621 tgtgatatct tctctctttt acctgtgtct caacttacct aggcaagtca taatttagat
     4681 agaaatctga tttcccaaac ctccaggttt agatatatca ttcagaaaag cctcaatgtg
     4741 tctgtaataa gaaacaatct ccaaattaca gcgccataaa cttcacaaaa gtttgtatct
     4801 cccacatggt tcctgtccac tctgaagggg agctctgctg ttgtaatcac tcagagaact
     4861 caggtgaaaa aacagccacc attatatgtg gctgtttctc aaactacaga gcatggtgaa
     4921 tcacacacag gctgttagaa tatccatctg gaggcaacac acatttgcat acacttctcc
     4981 agctaacata aataatgtgg ctttactaac ttcccagggg gcagctaagt gcaatactat
     5041 atgttaggaa aacggaaact aatttgtaga cagcactaat gatttccaca ttaggtaaaa
     5101 aaaattttca ttcttgtctt cctaatagca tttaaacaga aacgattttt aaaagttgtt
     5161 ttaaacattt agaaacatca tggcatagaa acatttagga ctcactcttt gtaagtactg
     5221 acaagcatgg tcttgtaatc tgtaaagata aggtagaata aatgaactaa aagaaatttt
     5281 agatgactaa aaggactata taatagaaag agggaaatct tggttcttaa aaattcaggc
     5341 aattgaaaca tttctgtata ataccaagca ttgttgcagt attgtctgaa atggttgctt
     5401 ttctaataaa tgaaaatgac taaaatgta
//
LOCUS       NM_000960               2078 bp    mRNA    linear   PRI 09-JAN-2022
DEFINITION  Homo sapiens prostaglandin I2 receptor (PTGIR), mRNA.
ACCESSION   NM_000960
VERSION     NM_000960.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2078)
  AUTHORS   Georges A, Albuisson J, Berrandou T, Dupre D, Lorthioir A,
            D'Escamard V, Di Narzo AF, Kadian-Dodov D, Olin JW, Warchol-Celinska
            E, Prejbisz A, Januszewicz A, Bruneval P, Baranowska AA, Webb TR,
            Hamby SE, Samani NJ, Adlam D, Fendrikova-Mahlay N, Hazen S, Wang Y,
            Yang ML, Hunker K, Combaret N, Motreff P, Chedid A, Fiquet B, Plouin
            PF, Mousseaux E, Azarine A, Amar L, Azizi M, Gornik HL, Ganesh SK,
            Kovacic JC, Jeunemaitre X and Bouatia-Naji N.
  TITLE     Rare loss-of-function mutations of PTGIR are enriched in
            fibromuscular dysplasia
  JOURNAL   Cardiovasc Res 117 (4), 1154-1165 (2021)
   PUBMED   32531060
  REMARK    GeneRIF: Rare loss-of-function mutations of PTGIR are enriched in
            fibromuscular dysplasia.
REFERENCE   2  (bases 1 to 2078)
  AUTHORS   Mulvaney EP, O'Meara F, Khan AR, O'Connell DJ and Kinsella BT.
  TITLE     Identification of alpha-helix 4 (alpha4) of Rab11a as a novel
            Rab11-binding domain (RBD): Interaction of Rab11a with the
            Prostacyclin Receptor
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1864 (10), 1819-1832 (2017)
   PUBMED   28739266
  REMARK    GeneRIF: these studies are not only the first to identify alpha4
            helix of Rab11a as a protein binding domain on the GTPase but also
            reveal novel mechanistic insights into the intracellular trafficking
            of the human prostacyclin receptor (hIP), and potentially of other
            members of the GPCR superfamily, involving Rab11-dependent
            mechanisms.
REFERENCE   3  (bases 1 to 2078)
  AUTHORS   Eivers SB and Kinsella BT.
  TITLE     Regulated expression of the prostacyclin receptor (IP) gene by
            androgens within the vasculature: Combined role for androgens and
            serum cholesterol
  JOURNAL   Biochim Biophys Acta 1859 (10), 1333-1351 (2016)
   PUBMED   27365208
  REMARK    GeneRIF: The human prostacyclin receptor gene is under the
            transcriptional regulation of dihydrotestosterone, where this
            regulation is further influenced by serum-cholesterol levels.
REFERENCE   4  (bases 1 to 2078)
  AUTHORS   Batchu SN, Majumder S, Bowskill BB, White KE, Advani SL, Brijmohan
            AS, Liu Y, Thai K, Azizi PM, Lee WL and Advani A.
  TITLE     Prostaglandin I2 Receptor Agonism Preserves beta-Cell Function and
            Attenuates Albuminuria Through Nephrin-Dependent Mechanisms
  JOURNAL   Diabetes 65 (5), 1398-1409 (2016)
   PUBMED   26868296
  REMARK    GeneRIF: Data (including data from studies using transgenic mice, an
            murine experimental model of diabetes, and mouse/human cell lines)
            suggest prostaglandin I2 receptor (PTGIR) is involved in insulin
            secretion in pancreatic beta-cells and in permselectivity in
            glomerular podocytes; the mechanism appears to involve regulation of
            post-translational phosphorylation of nephrin.
REFERENCE   5  (bases 1 to 2078)
  AUTHORS   Ghandour RA, Giroud M, Vegiopoulos A, Herzig S, Ailhaud G, Amri EZ
            and Pisani DF.
  TITLE     IP-receptor and PPARs trigger the conversion of human white to brite
            adipocyte induced by carbaprostacyclin
  JOURNAL   Biochim Biophys Acta 1861 (4), 285-293 (2016)
   PUBMED   26775637
  REMARK    GeneRIF: cPGI2 generates via its cognate cell-surface receptor IP-R,
            converting white adipocytes to brite adipocytes.
REFERENCE   6  (bases 1 to 2078)
  AUTHORS   Ogawa Y, Tanaka I, Inoue M, Yoshitake Y, Isse N, Nakagawa O, Usui T,
            Itoh H, Yoshimasa T, Narumiya S et al.
  TITLE     Structural organization and chromosomal assignment of the human
            prostacyclin receptor gene
  JOURNAL   Genomics 27 (1), 142-148 (1995)
   PUBMED   7665161
REFERENCE   7  (bases 1 to 2078)
  AUTHORS   Duncan AM, Anderson LL, Funk CD, Abramovitz M and Adam M.
  TITLE     Chromosomal localization of the human prostanoid receptor gene
            family
  JOURNAL   Genomics 25 (3), 740-742 (1995)
   PUBMED   7759114
REFERENCE   8  (bases 1 to 2078)
  AUTHORS   Nakagawa O, Tanaka I, Usui T, Harada M, Sasaki Y, Itoh H, Yoshimasa
            T, Namba T, Narumiya S and Nakao K.
  TITLE     Molecular cloning of human prostacyclin receptor cDNA and its gene
            expression in the cardiovascular system
  JOURNAL   Circulation 90 (4), 1643-1647 (1994)
   PUBMED   7923647
REFERENCE   9  (bases 1 to 2078)
  AUTHORS   Katsuyama M, Sugimoto Y, Namba T, Irie A, Negishi M, Narumiya S and
            Ichikawa A.
  TITLE     Cloning and expression of a cDNA for the human prostacyclin receptor
  JOURNAL   FEBS Lett 344 (1), 74-78 (1994)
   PUBMED   7514139
REFERENCE   10  (bases 1 to 2078)
  AUTHORS   Boie Y, Rushmore TH, Darmon-Goodwin A, Grygorczyk R, Slipetz DM,
            Metters KM and Abramovitz M.
  TITLE     Cloning and expression of a cDNA for the human prostanoid IP
            receptor
  JOURNAL   J Biol Chem 269 (16), 12173-12178 (1994)
   PUBMED   7512962
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC110342.1, BC075814.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2153307,
            SAMEA2155751 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000291294.7/ ENSP00000291294.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA652875.1, D25418.1 and
            BQ185457.1.
            On Nov 22, 2018 this sequence version replaced NM_000960.3.
            Summary: The protein encoded by this gene is a member of the
            G-protein coupled receptor family 1 and has been shown to be a
            receptor for prostacyclin. Prostacyclin, the major product of
            cyclooxygenase in macrovascular endothelium, elicits a potent
            vasodilation and inhibition of platelet aggregation through binding
            to this receptor. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2078
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..2078
                     /gene="PTGIR"
                     /gene_synonym="IP; PRIPR"
                     /note="prostaglandin I2 receptor"
                     /db_xref="GeneID:5739"
                     /db_xref="HGNC:HGNC:9602"
                     /db_xref="MIM:600022"
     misc_feature    46..48
                     /gene="PTGIR"
                     /gene_synonym="IP; PRIPR"
                     /note="upstream in-frame stop codon"
     CDS             106..1266
                     /gene="PTGIR"
                     /gene_synonym="IP; PRIPR"
                     /note="prostanoid IP receptor; PGI receptor; PGI2 receptor;
                     prostaglandin I2 (prostacyclin) receptor (IP)"
                     /codon_start=1
                     /product="prostacyclin receptor"
                     /protein_id="NP_000951.1"
                     /db_xref="CCDS:CCDS12686.1"
                     /db_xref="GeneID:5739"
                     /db_xref="HGNC:HGNC:9602"
                     /db_xref="MIM:600022"
                     /translation="MADSCRNLTYVRGSVGPATSTLMFVAGVVGNGLALGILSARRPAR
                     PSAFAVLVTGLAATDLLGTSFLSPAVFVAYARNSSLLGLARGGPALCDAFAFAMTFFGL
                     ASMLILFAMAVERCLALSHPYLYAQLDGPRCARLALPAIYAFCVLFCALPLLGLGQHQQ
                     YCPGSWCFLRMRWAQPGGAAFSLAYAGLVALLVAAIFLCNGSVTLSLCRMYRQQKRHQG
                     SLGPRPRTGEDEVDHLILLALMTVVMAVCSLPLTIRCFTQAVAPDSSSEMGDLLAFRFY
                     AFNPILDPWVFILFRKAVFQRLKLWVCCLCLGPAHGDSQTPLSQLASGRRDPRAPSAPV
                     GKEGSCVPLSAWGEGQVEPLPPTQQSSGSAVGTSSKAEASVACSLC"
     regulatory      2053..2058
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTGIR"
                     /gene_synonym="IP; PRIPR"
                     /note="hexamer: AATAAA"
     polyA_site      2078
                     /gene="PTGIR"
                     /gene_synonym="IP; PRIPR"
                     /note="major polyA site"
ORIGIN
        1 acacagaccg acacaggcag cgagagacac gaggagcaaa gcaagtgaag gcacagacgc
       61 acgggacagg agagcctggg caagactgga gagcccagac ctgggatggc ggattcgtgc
      121 aggaacctca cctacgtgcg gggctcggtg gggccggcca ccagcaccct gatgttcgtg
      181 gccggtgtgg tgggcaacgg gctggccctg ggcatcctga gcgcacggcg accggcgcgc
      241 ccctcggcct tcgcggtgct ggtgaccgga ctggcggcca ccgacctgct gggcaccagc
      301 ttcctgagcc cggccgtgtt cgtggcctat gcgcgcaaca gctccctgct gggcctggcc
      361 cgaggcggcc ccgccctgtg cgatgccttc gccttcgcca tgaccttctt cggcctggcg
      421 tccatgctca tcctctttgc catggccgtg gagcgctgcc tggcgctgag ccacccctac
      481 ctctacgcgc agctggacgg gccccgctgc gcccgcctgg cgctgccagc catctacgcc
      541 ttctgcgtcc tcttctgcgc gctgcccctg ctgggcctgg gccaacacca gcagtactgc
      601 cccggcagct ggtgcttcct ccgcatgcgc tgggcccagc cgggcggcgc cgccttctcg
      661 ctggcctacg ccggcctggt ggccctgctg gtggctgcca tcttcctctg caacggctcg
      721 gtcaccctca gcctctgccg catgtaccgc cagcagaagc gccaccaggg ctctctgggt
      781 ccacggccgc gcaccggaga ggacgaggtg gaccacctga tcctgctggc cctcatgaca
      841 gtggtcatgg ccgtgtgctc cctgcctctc acgatccgct gcttcaccca ggctgtcgcc
      901 cctgacagca gcagtgagat gggggacctc cttgccttcc gcttctacgc cttcaacccc
      961 atcctggacc cctgggtctt catccttttc cgcaaggctg tcttccagcg actcaagctc
     1021 tgggtctgct gcctgtgcct cgggcctgcc cacggagact cgcagacacc cctttcccag
     1081 ctcgcctcag ggaggaggga cccaagggcc ccctctgctc ctgtgggaaa ggaggggagc
     1141 tgcgtgcctt tgtcggcttg gggcgagggg caggtggagc ccttgcctcc cacacagcag
     1201 tccagcggca gcgccgtggg aacgtcgtcc aaagcagaag ccagcgtcgc ctgctccctc
     1261 tgctgacatt tcaagctgac cctgtgatct ctgccctgtc ttcgggcgac aggagccaga
     1321 aaatcaggga catggctgat ggctgcggat gctggaacct tggcccccaa actctggggc
     1381 cgatcagctg ctgtttctcc tgcggcaggg cagtcgctgc tggctctggg aagagagtga
     1441 gggacagagg aaacgtttat cctggagtgc agaaagaatg gttctctcaa aataaccagt
     1501 ggcctggccg acctgctctg gccctggatt ccccatccat ctcattgtct aaatatttag
     1561 aaggcggaga agttcccaga ggcttctgta cagtcaggtc tgctctggtc tgggtgctgg
     1621 ctccaatctg cgtccactta ggaggcccaa ctgcccaccc caagtcccca ggggatggcc
     1681 ctccccctct accaagccac tccaagagcc agcccctttc tgctccacaa aaaccacagt
     1741 tattggaaaa gctccctgcc ttcccttgcc gctggtcccc caccaggctt gggagccctg
     1801 gcatcccaaa ggggcaacgg gaggaagggg aggctgctgc attgtgggtg atgacgtagg
     1861 acatgtgctt ggtacaaaaa gggcctgaga cattccacct agcttgactg gctgcaagat
     1921 gagaactggg ggggtgcagg tggtggggag acagatggag aagctggcag atgaagggtg
     1981 ggggctgcgg atcccaggga ctgccccaga acacaaacct aagtcctgtg cctgtcccca
     2041 gggtcctgaa taaataaaag cctccttgca gagcctga
//
LOCUS       NM_000961               5570 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens prostaglandin I2 synthase (PTGIS), mRNA.
ACCESSION   NM_000961
VERSION     NM_000961.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5570)
  AUTHORS   Qiao D, Liu Y, Lei Y, Zhang C, Bu Y, Tang Y and Zhang Y.
  TITLE     rRNA-Derived Small RNA rsRNA-28S Regulates the Chemoresistance of
            Prostate Cancer Cells by Targeting PTGIS
  JOURNAL   Front Biosci (Landmark Ed) 28 (5), 102 (2023)
   PUBMED   37258478
  REMARK    GeneRIF: rRNA-Derived Small RNA rsRNA-28S Regulates the
            Chemoresistance of Prostate Cancer Cells by Targeting PTGIS.
REFERENCE   2  (bases 1 to 5570)
  AUTHORS   Lei K, Liang R, Tan B, Li L, Lyu Y, Wang K, Wang W, Wang K, Hu X, Wu
            D, Lin H and Wang M.
  TITLE     Effects of Lipid Metabolism-Related Genes PTGIS and HRASLS on
            Phenotype, Prognosis, and Tumor Immunity in Lung Squamous Cell
            Carcinoma
  JOURNAL   Oxid Med Cell Longev 2023, 6811625 (2023)
   PUBMED   36703911
  REMARK    GeneRIF: Effects of Lipid Metabolism-Related Genes PTGIS and HRASLS
            on Phenotype, Prognosis, and Tumor Immunity in Lung Squamous Cell
            Carcinoma. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5570)
  AUTHORS   Lombardi A, Arseni L, Carriero R, Compe E, Botta E, Ferri D, Ugge M,
            Biamonti G, Peverali FA, Bione S and Orioli D.
  TITLE     Reduced levels of prostaglandin I2 synthase: a distinctive feature
            of the cancer-free trichothiodystrophy
  JOURNAL   Proc Natl Acad Sci U S A 118 (26) (2021)
   PUBMED   34155103
  REMARK    GeneRIF: Reduced levels of prostaglandin I2 synthase: a distinctive
            feature of the cancer-free trichothiodystrophy.
REFERENCE   4  (bases 1 to 5570)
  AUTHORS   Ershov PV, Yablokov E, Zgoda V, Mezentsev Y, Gnedenko O, Kaluzhskiy
            L, Svirid A, Gilep A, Usanov SA and Ivanov A.
  TITLE     A new insight into subinteractomes of functional antagonists:
            Thromboxane (CYP5A1) and prostacyclin (CYP8A1) synthases
  JOURNAL   Cell Biol Int 45 (6), 1175-1182 (2021)
   PUBMED   33527589
  REMARK    GeneRIF: A new insight into subinteractomes of functional
            antagonists: Thromboxane (CYP5A1) and prostacyclin (CYP8A1)
            synthases. Review article
REFERENCE   5  (bases 1 to 5570)
  AUTHORS   Zhang SJ, Lian TY, Zhu XJ, Lu D, Xu XQ, Jiang X and Jing ZC.
  TITLE     Derivation of an induced pluripotent stem cell line (PUMCHi003-A)
            from a patient with pulmonary arterial hypertension carrying
            heterozygous mutation in PTGIS gene
  JOURNAL   Stem Cell Res 46, 101875 (2020)
   PUBMED   32559633
  REMARK    GeneRIF: Derivation of an induced pluripotent stem cell line
            (PUMCHi003-A) from a patient with pulmonary arterial hypertension
            carrying heterozygous mutation in PTGIS gene.
REFERENCE   6  (bases 1 to 5570)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 5570)
  AUTHORS   Wang LH and Chen L.
  TITLE     Organization of the gene encoding human prostacyclin synthase
  JOURNAL   Biochem Biophys Res Commun 226 (3), 631-637 (1996)
   PUBMED   8831668
REFERENCE   8  (bases 1 to 5570)
  AUTHORS   Yokoyama C, Yabuki T, Inoue H, Tone Y, Hara S, Hatae T, Nagata M,
            Takahashi EI and Tanabe T.
  TITLE     Human gene encoding prostacyclin synthase (PTGIS): genomic
            organization, chromosomal localization, and promoter activity
  JOURNAL   Genomics 36 (2), 296-304 (1996)
   PUBMED   8812456
REFERENCE   9  (bases 1 to 5570)
  AUTHORS   Nakayama T, Soma M, Izumi Y and Kanmatsuse K.
  TITLE     Organization of the human prostacyclin synthase gene
  JOURNAL   Biochem Biophys Res Commun 221 (3), 803-806 (1996)
   PUBMED   8630042
  REMARK    Erratum:[Biochem Biophys Res Commun. 1996 Jul 5;224(1):281. PMID:
            8694828]
REFERENCE   10  (bases 1 to 5570)
  AUTHORS   Miyata A, Hara S, Yokoyama C, Inoue H, Ullrich V and Tanabe T.
  TITLE     Molecular cloning and expression of human prostacyclin synthase
  JOURNAL   Biochem Biophys Res Commun 200 (3), 1728-1734 (1994)
   PUBMED   8185632
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.511141.1,
            SRR14372080.4329853.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000244043.5/ ENSP00000244043.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D83402.2, AF297048.1, D38145.1
            and AL118525.17.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000961.3.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            However, this protein is considered a member of the cytochrome P450
            superfamily on the basis of sequence similarity rather than
            functional similarity. This endoplasmic reticulum membrane protein
            catalyzes the conversion of prostglandin H2 to prostacyclin
            (prostaglandin I2), a potent vasodilator and inhibitor of platelet
            aggregation. An imbalance of prostacyclin and its physiological
            antagonist thromboxane A2 contribute to the development of
            myocardial infarction, stroke, and atherosclerosis. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5570
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.13"
     gene            1..5570
                     /gene="PTGIS"
                     /gene_synonym="CYP8; CYP8A1; PGIS; PTGI"
                     /note="prostaglandin I2 synthase"
                     /db_xref="GeneID:5740"
                     /db_xref="HGNC:HGNC:9603"
                     /db_xref="MIM:601699"
     CDS             22..1524
                     /gene="PTGIS"
                     /gene_synonym="CYP8; CYP8A1; PGIS; PTGI"
                     /EC_number="5.3.99.4"
                     /EC_number="4.2.1.152"
                     /note="cytochrome P450, family 8, subfamily A, polypeptide
                     1; prostaglandin I2 (prostacyclin) synthase; prostacyclin
                     synthase; hydroperoxy icosatetraenoate dehydratase"
                     /codon_start=1
                     /product="prostacyclin synthase precursor"
                     /protein_id="NP_000952.1"
                     /db_xref="CCDS:CCDS13419.1"
                     /db_xref="GeneID:5740"
                     /db_xref="HGNC:HGNC:9603"
                     /db_xref="MIM:601699"
                     /translation="MAWAALLGLLAALLLLLLLSRRRTRRPGEPPLDLGSIPWLGYALD
                     FGKDAASFLTRMKEKHGDIFTILVGGRYVTVLLDPHSYDAVVWEPRTRLDFHAYAIFLM
                     ERIFDVQLPHYSPSDEKARMKLTLLHRELQALTEAMYTNLHAVLLGDATEAGSGWHEMG
                     LLDFSYSFLLRAGYLTLYGIEALPRTHESQAQDRVHSADVFHTFRQLDRLLPKLARGSL
                     SVGDKDHMCSVKSRLWKLLSPARLARRAHRSKWLESYLLHLEEMGVSEEMQARALVLQL
                     WATQGNMGPAAFWLLLFLLKNPEALAAVRGELESILWQAEQPVSQTTTLPQKVLDSTPV
                     LDSVLSESLRLTAAPFITREVVVDLAMPMADGREFNLRRGDRLLLFPFLSPQRDPEIYT
                     DPEVFKYNRFLNPDGSEKKDFYKDGKRLKNYNMPWGAGHNHCLGRSYAVNSIKQFVFLV
                     LVHLDLELINADVEIPEFDLSRYGFGLMQPEHDVPVRYRIRP"
     sig_peptide     22..93
                     /gene="PTGIS"
                     /gene_synonym="CYP8; CYP8A1; PGIS; PTGI"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    22..81
                     /gene="PTGIS"
                     /gene_synonym="CYP8; CYP8A1; PGIS; PTGI"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16647.1);
                     transmembrane region"
     regulatory      5547..5552
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTGIS"
                     /gene_synonym="CYP8; CYP8A1; PGIS; PTGI"
                     /note="hexamer: ATTAAA"
     polyA_site      5570
                     /gene="PTGIS"
                     /gene_synonym="CYP8; CYP8A1; PGIS; PTGI"
                     /note="major polyA site"
ORIGIN
        1 gccagccccg ccagccccgc gatggcttgg gccgcgctcc tcggcctcct ggccgcactg
       61 ttgctgctgc tgctactgag ccgccgccgc acgcggcgac ctggtgagcc tcccctggac
      121 ctgggcagca tcccctggtt ggggtatgcc ttggactttg gaaaagatgc tgccagcttc
      181 ctcacgagga tgaaggagaa gcacggtgac atctttacta tactggttgg gggcaggtat
      241 gtcaccgttc tcctggaccc acactcctac gacgcggtgg tgtgggagcc tcgcaccagg
      301 ctcgacttcc atgcctatgc catcttcctc atggagagga tttttgatgt gcagcttcca
      361 cattacagcc ccagtgatga aaaggccagg atgaaactga ctcttctcca cagagagctc
      421 caggcactca cagaagccat gtataccaac ctccatgcag tgctgttggg cgatgctaca
      481 gaagcaggca gtggctggca cgagatgggt ctcctcgact tctcctacag cttcctgctc
      541 agagccggct acctgactct ttacggaatt gaggcgctgc cacgcaccca tgaaagccag
      601 gcccaggacc gcgtccactc agctgatgtc ttccacacct ttcgccagct cgaccggctg
      661 ctccccaaac tggcccgtgg ctccctgtca gtgggggaca aggaccacat gtgcagtgtc
      721 aaaagtcgcc tgtggaagct gctatcccca gccaggctgg ccaggcgggc ccaccggagc
      781 aaatggctgg agagttacct gctgcacctg gaggagatgg gtgtgtcaga ggagatgcag
      841 gcacgggccc tggtgctgca gctgtgggcc acacagggga atatgggtcc cgctgccttc
      901 tggctcctgc tcttccttct caagaatcct gaagccctgg ctgctgtccg cggagagctc
      961 gagagtatcc tttggcaagc ggagcagcct gtctcgcaga cgaccactct cccacagaag
     1021 gttctagaca gcacacctgt gcttgatagc gtgctgagtg agagcctcag gcttacagct
     1081 gcccccttca tcacccgcga ggttgtggtg gacctggcca tgcccatggc agacgggcga
     1141 gaattcaacc tgcgacgtgg tgaccgcctc ctcctcttcc ccttcctgag cccccagaga
     1201 gacccagaaa tctacacaga cccagaggta tttaaataca accgattcct gaaccctgac
     1261 ggatcagaga agaaagactt ttacaaggat gggaaacggc tgaagaatta caacatgccc
     1321 tggggggcgg ggcacaatca ctgcctgggg aggagttatg cggtcaacag catcaaacaa
     1381 tttgtgttcc ttgtgctggt gcacttggac ttggagctga tcaacgcaga tgtggagatc
     1441 cctgagtttg acctcagcag gtacggcttc ggtctgatgc agccggaaca cgacgtgccc
     1501 gtccgctacc gcatccgccc atgacacagg gagcagatgg atccacgtgc tcgcctctgc
     1561 ccagcctgcc ccagcctgcc ccagcctccc agctttctgt gtgcacagtt ggcccgggtg
     1621 caggtgctag cattaccact tccctgcttt tctcccagaa ggctgggtcc aggggaggga
     1681 aaagctaaga gggtgaacaa agaaaagaca ttgaaagctc tatggattat ccactgcaaa
     1741 gttttctttc caaaatcagg ctttgtctgc tcccaattca cctcgttact ctcacctcgt
     1801 gatatccaca aatgctattc agataaggca gaactaggag tcttcactgc tctgccccca
     1861 actcccggag gtgtcacctt cctagttctt atgagctagc atggcccggg ccttatccag
     1921 tcaaagcgga tgctggccac agaaaggcca ctcaggatgt cctttgtgtc cattgatgtc
     1981 attcagcagt cagtccccca ataatcctta aactagctaa aaccaaagga gtcccttaga
     2041 agatctgctt ccctggggcc ccatttgcca gattgcccca ttgctcacac tacttgagaa
     2101 aatgcaggag agcttccccc aaggctgatg cattcccggt gcagaacagg ggcaccctcc
     2161 aaacactggg ctctgaggag tggagttctc tgttctagag tgacaggcac cagatgggat
     2221 gggctttctc agtgtcagca ctcaggtagg gagctaagga agacacagcc cagacaagat
     2281 ggctggaagg agccagccag gactccttag actgatcaag ccaaaaaaga aggtgccgat
     2341 ttcatgcatt ctagtgcaga agccccaact gtgatcacga tccagtctgc agacgtgttt
     2401 tgtttggact tcacttaaaa aaatgcctta gttgttatca tctttgggag agttcattca
     2461 aaatgtccag cttctcttga aaacttggta tatctggcca cactgggctc acattcccaa
     2521 gggtaactct tggccagagc tgagtggcag ccgcctccct tatgcaggac atgtgctctc
     2581 ggcttcacca gggttctgac cgggtctgct tctgcattca cagcgcctcc tggacctgaa
     2641 ggcatctgag tgtgagaccc tgttctaact cttagaagtg acattgtaag aggtggtggg
     2701 gaccagctaa ttggtccaac ccagcctgag tgcaccaccc tttgaacaaa tgtatcagtg
     2761 atgaaaattt gcctttgccc cggcttgcct gtaatcccag cactttggga ggccgaggtg
     2821 ggcggatcac ttgaggtcgg gagttcaaga ccagcctggc caacatggcg aaaccccgtc
     2881 tctactaaac ataaaaaaat tagtcaggtg tggcggtgcg tgcctgtaat cccagctatt
     2941 caggaggctg aggcaccaga attgcttgaa cccaggaggt ggaggttgca gtgaactgag
     3001 actgcgccac ggcactccag cctgggcgac agagcaagac tctgtctcaa taaataaata
     3061 attaattaaa ataaaaaaca gcttaaagag aaaaatggcc tgcaaacctt ttttatgatg
     3121 ctatttttat taatataaag tcctgtttat tgagaccctt taaatgcctg cgagagaccc
     3181 tacagacagt atgtctactc ctcacagcat ctctatgaag agaaggaggg ttgtgcccac
     3241 ttcatagatg agaaaactga gaggtgaggt gacttgcctg gggccacata gctcataagc
     3301 tgtagaactc tgcaggcaga tttactgtcc caggagcaaa tgctggatga gcaactcctg
     3361 ttctttgggc tcaaggggac tggtgatggg acaattcttc tcgacttcag gagctgacag
     3421 agccagaggc acctaaactt gggtacatct tgtaagacac ataatgaggt ccctctagct
     3481 ttagctggag ggagataaaa gaaccccaga cctctgaatg tcccagaggc tagtctcttc
     3541 tcagagcagc actggggttt gggggcttcc ctgggcctca gcctccaggc acccccagga
     3601 ttcccagaga gacgctgtga ttggcaggag gcaggatatc cccagggaaa cccatcttca
     3661 cgcctgggtg acccccactg ccgcctcctt cttaactctg caggaaatca gagctggcag
     3721 cctccagtgg gaggacagag ccggtttccg tggcaaccct cagctgcctc atcgtggctg
     3781 ggaagggaag gaagcaagcc ggcagaaata gctatggaag gtcttgcgca ggctgcaacc
     3841 ctggtgtgct gggcgaaaac ccttatgact ccccccttcc aaatcaggct gggttgtcac
     3901 tgagactaga ttctcacctg ccttcaaaga agggccaatt ccctttaaag gtcgcacctc
     3961 cttggaacca cagtcattag tgaattacac tcaaggaaaa gatgtgctcc caccaggcag
     4021 ctccagctgt tacctgagat actgaagtgc agctcaggag acgattattt aaacctgccc
     4081 ttgttttaat cgttattttt ctctttaaaa aaaatagaag ctataaagaa aagagggaga
     4141 gatgagtggg ttagctacct gctatgcgct agttaggaag ttacctggat gccattgtat
     4201 ttcttcatcc cttgcttaag aatcaaaatt actggacata tgttaggaat actctttctt
     4261 tctttctttc tttttaagct cagtggcaag aatgaaatac tctttttttt tttttttttt
     4321 tgagatggag tctcgctctg ctgcccaggc tagagtgcag tggcgtgatc tcggctcact
     4381 gcaagctctg cctcccgtgt tcacaccatt ctcctgcctc agcctcctga gtagctggga
     4441 ctacaggcac ccgccaccac acccggctaa tttttggatt tttagtagag atgggatttc
     4501 accgtattag ccaggatggt cttgatctcc tgagctcgtg atctgcccgc ctcggcctcc
     4561 caaagtgctg ggattacagg tgtgagccac cgcgcccagc caagaataaa atactcttaa
     4621 gttgatctaa tgaagtgttt ccttaccatt gtgattattg ttactattat ttgctatatt
     4681 ttaatattgt tgtttaccaa atattctcct ttaaacagac tcgcttttta aacttttttt
     4741 tttttttttg agacggagtt tcacgcttat tgcccaggct ggagtgcaat ggcacgatct
     4801 cagctcacca caacctccac ctcctgggtt taagcaatgc ttctgcctca gcttcccaag
     4861 tagctgagat tacaggcgca caccaccacg cccaactgat ttttgtattt ttagtagaga
     4921 cggggtttcc ccatgttggt caggctggtc tcgaactcct gacctcgtga tttgcctgcc
     4981 tgggcctccc aaagtgctag gattacaggc atgagccacc atgcccggcc taaactttgt
     5041 ttttaaaatg aacttttttt ccccccaatt gctgccaata gtggataaca tgtatcactc
     5101 actgccaaaa atagaaagtg accatgaaaa ataaattcgc tggggaaggg ggctccatgc
     5161 tggtgtggcc aaggctgaga gctctctctt ctctgttaca aaacgagata agcaagtgtt
     5221 agaattgcct taaggccaca ctggcatctc cctgaccttc tccagggaca gaagcaggag
     5281 taagtttctc atcccatggg cgaccagggc catctcctcc caccagtggc ccccactcac
     5341 agggagctgg caatgcccta cctgcctgtt ctccagatgg agaaacaggc tctgagattt
     5401 cacaggtctt gcccaaagtc attgattttg atgattaaaa agaataaaca cagtgtttcc
     5461 tgagtagcag tgattgttat gccttgctat tttaataaag attctatttt cgtataacat
     5521 tgtcaagtgg aaacatgctg aaatctatta aaccatcttt gtttgtggaa
//
LOCUS       NM_000962               5020 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens prostaglandin-endoperoxide synthase 1 (PTGS1),
            transcript variant 1, mRNA.
ACCESSION   NM_000962
VERSION     NM_000962.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5020)
  AUTHORS   Nadler F, Lavdovskaia E, Krempler A, Cruz-Zaragoza LD, Dennerlein S
            and Richter-Dennerlein R.
  TITLE     Human mtRF1 terminates COX1 translation and its ablation induces
            mitochondrial ribosome-associated quality control
  JOURNAL   Nat Commun 13 (1), 6406 (2022)
   PUBMED   36302763
  REMARK    GeneRIF: Human mtRF1 terminates COX1 translation and its ablation
            induces mitochondrial ribosome-associated quality control.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5020)
  AUTHORS   Qin N, Zhang SP, Reitz TL, Mei JM and Flores CM.
  TITLE     Cloning, expression, and functional characterization of human
            cyclooxygenase-1 splicing variants: evidence for intron 1 retention
  JOURNAL   J Pharmacol Exp Ther 315 (3), 1298-1305 (2005)
   PUBMED   16141368
  REMARK    GeneRIF: Cloning, expression, and functional characterization of
            COX1 splicing variants were performed; there is evidence for intron
            retention.
REFERENCE   3  (bases 1 to 5020)
  AUTHORS   Dinchuk,J.E., Liu,R.Q. and Trzaskos,J.M.
  TITLE     COX-3: in the wrong frame in mind
  JOURNAL   Immunol Lett 86 (1), 121 (2003)
   PUBMED   12600754
REFERENCE   4  (bases 1 to 5020)
  AUTHORS   Chandrasekharan NV, Dai H, Roos KL, Evanson NK, Tomsik J, Elton TS
            and Simmons DL.
  TITLE     COX-3, a cyclooxygenase-1 variant inhibited by acetaminophen and
            other analgesic/antipyretic drugs: cloning, structure, and
            expression
  JOURNAL   Proc Natl Acad Sci U S A 99 (21), 13926-13931 (2002)
   PUBMED   12242329
  REMARK    GeneRIF: cloning, structure and expression of the COX-3 isozyme
REFERENCE   5  (bases 1 to 5020)
  AUTHORS   Plant MH and Laneuville O.
  TITLE     Characterization of a novel transcript of prostaglandin endoperoxide
            H synthase 1 with a tissue-specific profile of expression
  JOURNAL   Biochem J 344 Pt 3 (Pt 3), 677-685 (1999)
   PUBMED   10585854
REFERENCE   6  (bases 1 to 5020)
  AUTHORS   Picot D, Loll PJ and Garavito RM.
  TITLE     The X-ray crystal structure of the membrane protein prostaglandin H2
            synthase-1
  JOURNAL   Nature 367 (6460), 243-249 (1994)
   PUBMED   8121489
  REMARK    GeneRIF: Prostaglandin G/H synthase is a moonlighting protein that
            functions both as a peroxidase as well as a cyclooxygenase.
REFERENCE   7  (bases 1 to 5020)
  AUTHORS   Diaz A, Reginato AM and Jimenez SA.
  TITLE     Alternative splicing of human prostaglandin G/H synthase mRNA and
            evidence of differential regulation of the resulting transcripts by
            transforming growth factor beta 1, interleukin 1 beta, and tumor
            necrosis factor alpha
  JOURNAL   J Biol Chem 267 (15), 10816-10822 (1992)
   PUBMED   1587858
REFERENCE   8  (bases 1 to 5020)
  AUTHORS   Takahashi Y, Ueda N, Yoshimoto T, Yamamoto S, Yokoyama C, Miyata A,
            Tanabe T, Fuse I, Hattori A and Shibata A.
  TITLE     Immunoaffinity purification and cDNA cloning of human platelet
            prostaglandin endoperoxide synthase (cyclooxygenase)
  JOURNAL   Biochem Biophys Res Commun 182 (2), 433-438 (1992)
   PUBMED   1734857
REFERENCE   9  (bases 1 to 5020)
  AUTHORS   Funk CD, Funk LB, Kennedy ME, Pong AS and Fitzgerald GA.
  TITLE     Human platelet/erythroleukemia cell prostaglandin G/H synthase: cDNA
            cloning, expression, and gene chromosomal assignment
  JOURNAL   FASEB J 5 (9), 2304-2312 (1991)
   PUBMED   1907252
REFERENCE   10  (bases 1 to 5020)
  AUTHORS   Yokoyama C and Tanabe T.
  TITLE     Cloning of human gene encoding prostaglandin endoperoxide synthase
            and primary structure of the enzyme
  JOURNAL   Biochem Biophys Res Commun 165 (2), 888-894 (1989)
   PUBMED   2512924
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.139547.1,
            SRR1803611.220452.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000362012.7/ ENSP00000354612.2
            multifunctional gene product(s) :: PMID: 8121489
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA392280.1, AL162424.20,
            M59979.1, AL359636.17 and AI813317.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000962.3.
            Summary: This is one of two genes encoding similar enzymes that
            catalyze the conversion of arachidonate to prostaglandin. The
            encoded protein regulates angiogenesis in endothelial cells, and is
            inhibited by nonsteroidal anti-inflammatory drugs such as aspirin.
            Based on its ability to function as both a cyclooxygenase and as a
            peroxidase, the encoded protein has been identified as a
            moonlighting protein. The protein may promote cell proliferation
            during tumor progression. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Nov 2021].
            Transcript Variant: This variant (1) encodes isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5020
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     gene            1..5020
                     /gene="PTGS1"
                     /gene_synonym="COX1; COX3; PCOX1; PES-1; PGG/HS; PGHS-1;
                     PGHS1; PHS1; PTGHS"
                     /note="prostaglandin-endoperoxide synthase 1"
                     /db_xref="GeneID:5742"
                     /db_xref="HGNC:HGNC:9604"
                     /db_xref="MIM:176805"
     CDS             62..1861
                     /gene="PTGS1"
                     /gene_synonym="COX1; COX3; PCOX1; PES-1; PGG/HS; PGHS-1;
                     PGHS1; PHS1; PTGHS"
                     /EC_number="1.14.99.1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; PGH synthase 1; cyclooxygenase-1; prostaglandin H2
                     synthase 1; prostaglandin-endoperoxide synthase 1
                     (prostaglandin G/H synthase and cyclooxygenase)"
                     /codon_start=1
                     /product="prostaglandin G/H synthase 1 isoform 1 precursor"
                     /protein_id="NP_000953.2"
                     /db_xref="CCDS:CCDS6842.1"
                     /db_xref="GeneID:5742"
                     /db_xref="HGNC:HGNC:9604"
                     /db_xref="MIM:176805"
                     /translation="MSRSLLLWFLLFLLLLPPLPVLLADPGAPTPVNPCCYYPCQHQGI
                     CVRFGLDRYQCDCTRTGYSGPNCTIPGLWTWLRNSLRPSPSFTHFLLTHGRWFWEFVNA
                     TFIREMLMRLVLTVRSNLIPSPPTYNSAHDYISWESFSNVSYYTRILPSVPKDCPTPMG
                     TKGKKQLPDAQLLARRFLLRRKFIPDPQGTNLMFAFFAQHFTHQFFKTSGKMGPGFTKA
                     LGHGVDLGHIYGDNLERQYQLRLFKDGKLKYQVLDGEMYPPSVEEAPVLMHYPRGIPPQ
                     SQMAVGQEVFGLLPGLMLYATLWLREHNRVCDLLKAEHPTWGDEQLFQTTRLILIGETI
                     KIVIEEYVQQLSGYFLQLKFDPELLFGVQFQYRNRIAMEFNHLYHWHPLMPDSFKVGSQ
                     EYSYEQFLFNTSMLVDYGVEALVDAFSRQIAGRIGGGRNMDHHILHVAVDVIRESREMR
                     LQPFNEYRKRFGMKPYTSFQELVGEKEMAAELEELYGDIDALEFYPGLLLEKCHPNSIF
                     GESMIEIGAPFSLKGLLGNPICSPEYWKPSTFGGEVGFNIVKTATLKKLVCLNTKTCPY
                     VSFRVPDASQDDGPAVERPSTEL"
     sig_peptide     62..130
                     /gene="PTGS1"
                     /gene_synonym="COX1; COX3; PCOX1; PES-1; PGG/HS; PGHS-1;
                     PGHS1; PHS1; PTGHS"
                     /note="propagated from UniProtKB/Swiss-Prot (P23219.2)"
     mat_peptide     131..1858
                     /gene="PTGS1"
                     /gene_synonym="COX1; COX3; PCOX1; PES-1; PGG/HS; PGHS-1;
                     PGHS1; PHS1; PTGHS"
                     /product="Prostaglandin G/H synthase 1. /id=PRO_0000023868"
                     /note="propagated from UniProtKB/Swiss-Prot (P23219.2)"
     misc_feature    260..262
                     /gene="PTGS1"
                     /gene_synonym="COX1; COX3; PCOX1; PES-1; PGG/HS; PGHS-1;
                     PGHS1; PHS1; PTGHS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23219.2); glycosylation site"
     misc_feature    368..370
                     /gene="PTGS1"
                     /gene_synonym="COX1; COX3; PCOX1; PES-1; PGG/HS; PGHS-1;
                     PGHS1; PHS1; PTGHS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23219.2); glycosylation site"
     misc_feature    488..490
                     /gene="PTGS1"
                     /gene_synonym="COX1; COX3; PCOX1; PES-1; PGG/HS; PGHS-1;
                     PGHS1; PHS1; PTGHS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P23219.2); glycosylation site"
     misc_feature    1646..1648
                     /gene="PTGS1"
                     /gene_synonym="COX1; COX3; PCOX1; PES-1; PGG/HS; PGHS-1;
                     PGHS1; PHS1; PTGHS"
                     /note="Aspirin-acetylated serine; propagated from
                     UniProtKB/Swiss-Prot (P23219.2); other site"
     regulatory      2596..2601
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTGS1"
                     /gene_synonym="COX1; COX3; PCOX1; PES-1; PGG/HS; PGHS-1;
                     PGHS1; PHS1; PTGHS"
                     /note="hexamer: AATAAA"
     polyA_site      2619
                     /gene="PTGS1"
                     /gene_synonym="COX1; COX3; PCOX1; PES-1; PGG/HS; PGHS-1;
                     PGHS1; PHS1; PTGHS"
                     /note="major polyA site"
     regulatory      5001..5006
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTGS1"
                     /gene_synonym="COX1; COX3; PCOX1; PES-1; PGG/HS; PGHS-1;
                     PGHS1; PHS1; PTGHS"
                     /note="hexamer: AATAAA"
     polyA_site      5020
                     /gene="PTGS1"
                     /gene_synonym="COX1; COX3; PCOX1; PES-1; PGG/HS; PGHS-1;
                     PGHS1; PHS1; PTGHS"
                     /note="major polyA site"
ORIGIN
        1 agtgtgcgag gcgcacgcac aggagcctgc actctgcgtc ccgcacccca gcagccgcgc
       61 catgagccgg agtctcttgc tctggttctt gctgttcctg ctcctgctcc cgccgctccc
      121 cgtcctgctc gcggacccag gggcgcccac gccagtgaat ccctgttgtt actatccatg
      181 ccagcaccag ggcatctgtg tccgcttcgg ccttgaccgc taccagtgtg actgcacccg
      241 cacgggctat tccggcccca actgcaccat ccctggcctg tggacctggc tccggaattc
      301 actgcggccc agcccctctt tcacccactt cctgctcact cacgggcgct ggttctggga
      361 gtttgtcaat gccaccttca tccgagagat gctcatgcgc ctggtactca cagtgcgctc
      421 caaccttatc cccagtcccc ccacctacaa ctcagcacat gactacatca gctgggagtc
      481 tttctccaac gtgagctatt acactcgtat tctgccctct gtgcctaaag attgccccac
      541 acccatggga accaaaggga agaagcagtt gccagatgcc cagctcctgg cccgccgctt
      601 cctgctcagg aggaagttca tacctgaccc ccaaggcacc aacctcatgt ttgccttctt
      661 tgcacaacac ttcacccacc agttcttcaa aacttctggc aagatgggtc ctggcttcac
      721 caaggccttg ggccatgggg tagacctcgg ccacatttat ggagacaatc tggagcgtca
      781 gtatcaactg cggctcttta aggatgggaa actcaagtac caggtgctgg atggagaaat
      841 gtacccgccc tcggtagaag aggcgcctgt gttgatgcac tacccccgag gcatcccgcc
      901 ccagagccag atggctgtgg gccaggaggt gtttgggctg cttcctgggc tcatgctgta
      961 tgccacgctc tggctacgtg agcacaaccg tgtgtgtgac ctgctgaagg ctgagcaccc
     1021 cacctggggc gatgagcagc ttttccagac gacccgcctc atcctcatag gggagaccat
     1081 caagattgtc atcgaggagt acgtgcagca gctgagtggc tatttcctgc agctgaaatt
     1141 tgacccagag ctgctgttcg gtgtccagtt ccaataccgc aaccgcattg ccatggagtt
     1201 caaccatctc taccactggc accccctcat gcctgactcc ttcaaggtgg gctcccagga
     1261 gtacagctac gagcagttct tgttcaacac ctccatgttg gtggactatg gggttgaggc
     1321 cctggtggat gccttctctc gccagattgc tggccggatc ggtgggggca ggaacatgga
     1381 ccaccacatc ctgcatgtgg ctgtggatgt catcagggag tctcgggaga tgcggctgca
     1441 gcccttcaat gagtaccgca agaggtttgg catgaaaccc tacacctcct tccaggagct
     1501 cgtaggagag aaggagatgg cagcagagtt ggaggaattg tatggagaca ttgatgcgtt
     1561 ggagttctac cctggactgc ttcttgaaaa gtgccatcca aactctatct ttggggagag
     1621 tatgatagag attggggctc ccttttccct caagggtctc ctagggaatc ccatctgttc
     1681 tccggagtac tggaagccga gcacatttgg cggcgaggtg ggctttaaca ttgtcaagac
     1741 ggccacactg aagaagctgg tctgcctcaa caccaagacc tgtccctacg tttccttccg
     1801 tgtgccggat gccagtcagg atgatgggcc tgctgtggag cgaccatcca cagagctctg
     1861 aggggcagga aagcagcatt ctggagggga gagctttgtg cttgtcattc cagagtgctg
     1921 aggccagggc tgatggtctt aaatgctcat tttctggttt ggcatggtga gtgttggggt
     1981 tgacatttag aactttaagt ctcacccatt atctggaata ttgtgattct gtttattctt
     2041 ccagaatgct gaactccttg ttagcccttc agattgttag gagtggttct catttggtct
     2101 gccagaatac tgggttctta gttgacaacc tagaatgtca gatttctggt tgatttgtaa
     2161 cacagtcatt ctaggatgtg gagctactga tgaaatctgc tagaaagtta gggggttctt
     2221 attttgcatt ccagaatctt gactttctga ttggtgattc aaagtgttgt gttcctggct
     2281 gatgatccag aacagtggct cgtatcccaa atctgtcagc atctggctgt ctagaatgtg
     2341 gatttgattc attttcctgt tcagtgagat atcatagaga cggagatcct aaggtccaac
     2401 aagaatgcat tccctgaatc tgtgcctgca ctgagagggc aaggaagtgg ggtgttcttc
     2461 ttgggacccc cactaagacc ctggtctgag gatgtagaga gaacaggtgg gctgtattca
     2521 cgccattggt tggaagctac cagagctcta tccccatcca ggtcttgact catggcagct
     2581 gtttctcatg aagctaataa aattcgcttt ctaaagttac ctgttatata tctcttttgg
     2641 tcccatcctc taaagcagag gcaacactgg aacatggcta gcctttcttg tagccatggc
     2701 tgggcgtgct agaggttgca gcatgagact ttctgctggg atccttgggc ccatcactgt
     2761 atagacatgc taccactggt acttcctttc tccctgcggg ccaggcactg cccttttcag
     2821 gaagctctct taaaataccc attgccccag acctggaaga tataacattc agttcccacc
     2881 atctgattaa aacaacttcc tcccttacag agcatacaac agagggggca cccggggagg
     2941 agagcacata ctgtgttcca atttcacgct tttaattctc atttgttctc acaccaacag
     3001 tgtgaagtgc gtggtataat ctccatttca aaaccaagga agcagcctca gagtggtcga
     3061 gtgacacacc tcacgcaggc tgagtccaga gcttgtgctc ctcttgattc ctggtttgac
     3121 tcagttccag gcctgatctt gcctgtctgg ctcagggtca aagacagaat ggtggagtgt
     3181 agcctccacc tgatattcag gctactcatt cagtcccaaa tatgtatttt cctaagtgtt
     3241 tactatgtgc cagttcctgt aacaggtgtg gggacacagc agtgagtaat caatacagac
     3301 aaggttctgc ccttatggag ctcacactcc agtggcagac aaacagacca taaataagga
     3361 aacgatgaaa taagatatat acaaggtgag tgtgacttcc cttctaaccc cctctgctct
     3421 gtcctcccct attgcgctct caagaccaga gacccaacag cagtgatctc agggcagaca
     3481 gccctccact ccagctctga gacccttttc tcaggacctc tgtaggcagc agagagagag
     3541 gacagagggg taagatgagg ggttgaggga aggttcttca tgatccacac tttgggctta
     3601 gtatttctca ggaagagcta tggcccagaa acaacagggg aaactagagt tcggtctgac
     3661 agtccttggg gttaagtctc ctgtcttatg gtccagaaac tcctgtttct ccttagttgg
     3721 ctggaaactg ctcccatcat tccttctggc ctctgctgaa tgcagggaat gcaatccttc
     3781 cctgctcttg cagttgctct gacgtagaaa gatccttcgg gtgctggaag tctccatgaa
     3841 gagcttgtgt cctgtccttt cttgcagatt ctatttcccc tcttctgcta atacctctta
     3901 ctttgcttga gaatcctctc ctttcttatt aatttcagtc ttggtggttc tatcaggggt
     3961 gcattctggc caaggggtgg gcctgtgaat caatcctggg caatcagaca ccctctcctt
     4021 aaaaactggc ccgtggagac tgagatcact gactctgact catccccaca gctggctctg
     4081 acaagatggt ccatttgttc ctgcttccga gatccccagg gcagcctgga tccctgccct
     4141 tctcaagact ttagcttttc cttccatccg gtggcctatt ccaggaattc ctcttttgct
     4201 taaatcagtt ggagtttgtg tctgttgctt gtaatcaagc ctttatggct gctgggctga
     4261 gtgacacaag cactttaatg gcctggaggg acttttaatc agtgaagatg caatcagaca
     4321 agtgttttgg aaagagcacc ctcgagaagg gtggatgaca gggcagagca ggaaggacag
     4381 gaagctggca gaacggagga ggctgcagcc gtggtccaac caggagctga tggcagctgg
     4441 ggctagggga agggctttga gggtggaagg atgggatggg ttccagaggt attcctctct
     4501 taaatgcaag tgcctagatt aggtagactt tgcttagtat tgacaactgc acatgaaagt
     4561 tttgcaaagg gaaacaggct aaatgcacca agaaagcttc ttcagagtga agaatcttaa
     4621 tgcttgtaat ttaaacattt gttcctggag ttttgatttg gtggatgtga tggttggttt
     4681 tatttgtcag tttggttggg ctatagcaca cagttattta atcaaacagt aatctaggtg
     4741 tggctgtgaa ggtattttgt agatgtgatt aacatctaca atcagttgac tttaagtgaa
     4801 agagattact taaataattt gggtgagctg cacctgatta gttgaaaggc ctcaagaaca
     4861 aacactgcag tttcctggaa aagaagaaac tttgcctcaa gactatagcc atcgactcct
     4921 gcctgagttt ccagcctgct agtctgccct atggatttga agtttgccaa ccccaacaat
     4981 tgtgtgaatt aatttctaaa aataaagcta tatacagcca
//
LOCUS       NM_000963               4510 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens prostaglandin-endoperoxide synthase 2 (PTGS2), mRNA.
ACCESSION   NM_000963
VERSION     NM_000963.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4510)
  AUTHORS   Tsyndrenko N, Lyndsmall i, Ukrainiann M, Sikora K, Wireko AA,
            Abdul-Rahman T, Hyriavenko N and Romaniuk A.
  TITLE     ER and COX2 expression in endometrial hyperplasia processes
  JOURNAL   Medicine (Baltimore) 102 (33), e34864 (2023)
   PUBMED   37603513
  REMARK    GeneRIF: ER and COX2 expression in endometrial hyperplasia
            processes.
REFERENCE   2  (bases 1 to 4510)
  AUTHORS   Lee H, Jung S, Gong G, Lim B and Lee HJ.
  TITLE     Association of cyclooxygenase-2 expression with endoplasmic
            reticulum stress and autophagy in triple-negative breast cancer
  JOURNAL   PLoS One 18 (8), e0289627 (2023)
   PUBMED   37540709
  REMARK    GeneRIF: Association of cyclooxygenase-2 expression with endoplasmic
            reticulum stress and autophagy in triple-negative breast cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4510)
  AUTHORS   Malik S, Kamboj M, Narwal A and Devi A.
  TITLE     Immunohistochemical evaluation of cyclooxygenase-2 and mast cell
            density in periapical lesions
  JOURNAL   Int Endod J 56 (8), 980-990 (2023)
   PUBMED   37171246
  REMARK    GeneRIF: Immunohistochemical evaluation of cyclooxygenase-2 and mast
            cell density in periapical lesions.
REFERENCE   4  (bases 1 to 4510)
  AUTHORS   Zhang Y, Zhang G, Zhong J, Li A, Wu Y and Guo Z.
  TITLE     Expression and correlation of COX-2 and NUCB1 in colorectal
            adenocarcinoma
  JOURNAL   PeerJ 11, e15774 (2023)
   PUBMED   37547718
  REMARK    GeneRIF: Expression and correlation of COX-2 and NUCB1 in colorectal
            adenocarcinoma. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4510)
  AUTHORS   Li ZC and An F.
  TITLE     ERBB2-PTGS2 axis promotes intervertebral disc degeneration by
            regulating senescence of nucleus pulposus cells
  JOURNAL   BMC Musculoskelet Disord 24 (1), 504 (2023)
   PUBMED   37340393
  REMARK    GeneRIF: ERBB2-PTGS2 axis promotes intervertebral disc degeneration
            by regulating senescence of nucleus pulposus cells. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 4510)
  AUTHORS   Kulmacz RJ and Wang LH.
  TITLE     Comparison of hydroperoxide initiator requirements for the
            cyclooxygenase activities of prostaglandin H synthase-1 and -2
  JOURNAL   J Biol Chem 270 (41), 24019-24023 (1995)
   PUBMED   7592599
REFERENCE   7  (bases 1 to 4510)
  AUTHORS   Vane JR, Mitchell JA, Appleton I, Tomlinson A, Bishop-Bailey D,
            Croxtall J and Willoughby DA.
  TITLE     Inducible isoforms of cyclooxygenase and nitric-oxide synthase in
            inflammation
  JOURNAL   Proc Natl Acad Sci U S A 91 (6), 2046-2050 (1994)
   PUBMED   7510883
REFERENCE   8  (bases 1 to 4510)
  AUTHORS   Hla T and Neilson K.
  TITLE     Human cyclooxygenase-2 cDNA
  JOURNAL   Proc Natl Acad Sci U S A 89 (16), 7384-7388 (1992)
   PUBMED   1380156
REFERENCE   9  (bases 1 to 4510)
  AUTHORS   Kraemer SA, Meade EA and DeWitt DL.
  TITLE     Prostaglandin endoperoxide synthase gene structure: identification
            of the transcriptional start site and 5'-flanking regulatory
            sequences
  JOURNAL   Arch Biochem Biophys 293 (2), 391-400 (1992)
   PUBMED   1536575
REFERENCE   10  (bases 1 to 4510)
  AUTHORS   Hamberg,M. and Samuelsson,B.
  TITLE     Detection and isolation of an endoperoxide intermediate in
            prostaglandin biosynthesis
  JOURNAL   Proc Natl Acad Sci U S A 70 (3), 899-903 (1973)
   PUBMED   4514999
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC013734.1, SRR1660807.206449.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367468.10/ ENSP00000356438.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA277667.1, BC013734.1,
            AL033533.5, KF455116.1 and BM978796.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_000963.3.
            Summary: Prostaglandin-endoperoxide synthase (PTGS), also known as
            cyclooxygenase, is the key enzyme in prostaglandin biosynthesis,
            and acts both as a dioxygenase and as a peroxidase. There are two
            isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2,
            which differ in their regulation of expression and tissue
            distribution. This gene encodes the inducible isozyme. It is
            regulated by specific stimulatory events, suggesting that it is
            responsible for the prostanoid biosynthesis involved in
            inflammation and mitogenesis. [provided by RefSeq, Feb 2009].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4510
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.1"
     gene            1..4510
                     /gene="PTGS2"
                     /gene_synonym="COX-2; COX2; GRIPGHS; hCox-2; PGG/HS;
                     PGHS-2; PHS-2"
                     /note="prostaglandin-endoperoxide synthase 2"
                     /db_xref="GeneID:5743"
                     /db_xref="HGNC:HGNC:9605"
                     /db_xref="MIM:600262"
     CDS             134..1948
                     /gene="PTGS2"
                     /gene_synonym="COX-2; COX2; GRIPGHS; hCox-2; PGG/HS;
                     PGHS-2; PHS-2"
                     /EC_number="1.14.99.1"
                     /note="cyclooxygenase 2b; PHS II;
                     prostaglandin-endoperoxide synthase 2 (prostaglandin G/H
                     synthase and cyclooxygenase); PGH synthase 2; prostaglandin
                     H2 synthase 2"
                     /codon_start=1
                     /product="prostaglandin G/H synthase 2 precursor"
                     /protein_id="NP_000954.1"
                     /db_xref="CCDS:CCDS1371.1"
                     /db_xref="GeneID:5743"
                     /db_xref="HGNC:HGNC:9605"
                     /db_xref="MIM:600262"
                     /translation="MLARALLLCAVLALSHTANPCCSHPCQNRGVCMSVGFDQYKCDCT
                     RTGFYGENCSTPEFLTRIKLFLKPTPNTVHYILTHFKGFWNVVNNIPFLRNAIMSYVLT
                     SRSHLIDSPPTYNADYGYKSWEAFSNLSYYTRALPPVPDDCPTPLGVKGKKQLPDSNEI
                     VEKLLLRRKFIPDPQGSNMMFAFFAQHFTHQFFKTDHKRGPAFTNGLGHGVDLNHIYGE
                     TLARQRKLRLFKDGKMKYQIIDGEMYPPTVKDTQAEMIYPPQVPEHLRFAVGQEVFGLV
                     PGLMMYATIWLREHNRVCDVLKQEHPEWGDEQLFQTSRLILIGETIKIVIEDYVQHLSG
                     YHFKLKFDPELLFNKQFQYQNRIAAEFNTLYHWHPLLPDTFQIHDQKYNYQQFIYNNSI
                     LLEHGITQFVESFTRQIAGRVAGGRNVPPAVQKVSQASIDQSRQMKYQSFNEYRKRFML
                     KPYESFEELTGEKEMSAELEALYGDIDAVELYPALLVEKPRPDAIFGETMVEVGAPFSL
                     KGLMGNVICSPAYWKPSTFGGEVGFQIINTASIQSLICNNVKGCPFTSFSVPDPELIKT
                     VTINASSSRSGLDDINPTVLLKERSTEL"
     sig_peptide     134..202
                     /gene="PTGS2"
                     /gene_synonym="COX-2; COX2; GRIPGHS; hCox-2; PGG/HS;
                     PGHS-2; PHS-2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    290..292
                     /gene="PTGS2"
                     /gene_synonym="COX-2; COX2; GRIPGHS; hCox-2; PGG/HS;
                     PGHS-2; PHS-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:26859324,
                     ECO:0000269|PubMed:27226593, ECO:0007744|PDB:5F19,
                     ECO:0007744|PDB:5F1A, ECO:0007744|PDB:5IKQ,
                     ECO:0007744|PDB:5IKT; propagated from UniProtKB/Swiss-Prot
                     (P35354.2); glycosylation site"
     misc_feature    521..523
                     /gene="PTGS2"
                     /gene_synonym="COX-2; COX2; GRIPGHS; hCox-2; PGG/HS;
                     PGHS-2; PHS-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:26859324,
                     ECO:0000269|PubMed:27226593, ECO:0000269|PubMed:27710942,
                     ECO:0007744|PDB:5F19, ECO:0007744|PDB:5F1A,
                     ECO:0007744|PDB:5IKQ, ECO:0007744|PDB:5IKR,
                     ECO:0007744|PDB:5IKT, ECO:0007744|PDB:5IKV,
                     ECO:0007744|PDB:5KIR; propagated from UniProtKB/Swiss-Prot
                     (P35354.2); glycosylation site"
     misc_feature    1319..1321
                     /gene="PTGS2"
                     /gene_synonym="COX-2; COX2; GRIPGHS; hCox-2; PGG/HS;
                     PGHS-2; PHS-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:26859324,
                     ECO:0000269|PubMed:27226593, ECO:0000269|PubMed:27710942,
                     ECO:0007744|PDB:5F19, ECO:0007744|PDB:5F1A,
                     ECO:0007744|PDB:5IKQ, ECO:0007744|PDB:5IKR,
                     ECO:0007744|PDB:5IKT, ECO:0007744|PDB:5IKV,
                     ECO:0007744|PDB:5KIR; propagated from UniProtKB/Swiss-Prot
                     (P35354.2); glycosylation site"
     misc_feature    1679..1681
                     /gene="PTGS2"
                     /gene_synonym="COX-2; COX2; GRIPGHS; hCox-2; PGG/HS;
                     PGHS-2; PHS-2"
                     /note="Aspirin-acetylated serine.
                     /evidence=ECO:0000269|PubMed:26859324; propagated from
                     UniProtKB/Swiss-Prot (P35354.2); other site"
     misc_feature    1826..1828
                     /gene="PTGS2"
                     /gene_synonym="COX-2; COX2; GRIPGHS; hCox-2; PGG/HS;
                     PGHS-2; PHS-2"
                     /note="O-acetylserine.
                     /evidence=ECO:0000250|UniProtKB:Q05769; propagated from
                     UniProtKB/Swiss-Prot (P35354.2); acetylation site"
     misc_feature    1871..1873
                     /gene="PTGS2"
                     /gene_synonym="COX-2; COX2; GRIPGHS; hCox-2; PGG/HS;
                     PGHS-2; PHS-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17113084; propagated from
                     UniProtKB/Swiss-Prot (P35354.2); glycosylation site"
     regulatory      4434..4439
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTGS2"
                     /gene_synonym="COX-2; COX2; GRIPGHS; hCox-2; PGG/HS;
                     PGHS-2; PHS-2"
                     /note="hexamer: AATAAA"
     polyA_site      4468
                     /gene="PTGS2"
                     /gene_synonym="COX-2; COX2; GRIPGHS; hCox-2; PGG/HS;
                     PGHS-2; PHS-2"
                     /note="major polyA site"
     regulatory      4488..4493
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTGS2"
                     /gene_synonym="COX-2; COX2; GRIPGHS; hCox-2; PGG/HS;
                     PGHS-2; PHS-2"
                     /note="hexamer: GATAAA"
     polyA_site      4493
                     /gene="PTGS2"
                     /gene_synonym="COX-2; COX2; GRIPGHS; hCox-2; PGG/HS;
                     PGHS-2; PHS-2"
     polyA_site      4510
                     /gene="PTGS2"
                     /gene_synonym="COX-2; COX2; GRIPGHS; hCox-2; PGG/HS;
                     PGHS-2; PHS-2"
ORIGIN
        1 aattgtcata cgacttgcag tgagcgtcag gagcacgtcc aggaactcct cagcagcgcc
       61 tccttcagct ccacagccag acgccctcag acagcaaagc ctacccccgc gccgcgccct
      121 gcccgccgct gcgatgctcg cccgcgccct gctgctgtgc gcggtcctgg cgctcagcca
      181 tacagcaaat ccttgctgtt cccacccatg tcaaaaccga ggtgtatgta tgagtgtggg
      241 atttgaccag tataagtgcg attgtacccg gacaggattc tatggagaaa actgctcaac
      301 accggaattt ttgacaagaa taaaattatt tctgaaaccc actccaaaca cagtgcacta
      361 catacttacc cacttcaagg gattttggaa cgttgtgaat aacattccct tccttcgaaa
      421 tgcaattatg agttatgtgt tgacatccag atcacatttg attgacagtc caccaactta
      481 caatgctgac tatggctaca aaagctggga agccttctct aacctctcct attatactag
      541 agcccttcct cctgtgcctg atgattgccc gactcccttg ggtgtcaaag gtaaaaagca
      601 gcttcctgat tcaaatgaga ttgtggaaaa attgcttcta agaagaaagt tcatccctga
      661 tccccagggc tcaaacatga tgtttgcatt ctttgcccag cacttcacgc atcagttttt
      721 caagacagat cataagcgag ggccagcttt caccaacggg ctgggccatg gggtggactt
      781 aaatcatatt tacggtgaaa ctctggctag acagcgtaaa ctgcgccttt tcaaggatgg
      841 aaaaatgaaa tatcagataa ttgatggaga gatgtatcct cccacagtca aagatactca
      901 ggcagagatg atctaccctc ctcaagtccc tgagcatcta cggtttgctg tggggcagga
      961 ggtctttggt ctggtgcctg gtctgatgat gtatgccaca atctggctgc gggaacacaa
     1021 cagagtatgc gatgtgctta aacaggagca tcctgaatgg ggtgatgagc agttgttcca
     1081 gacaagcagg ctaatactga taggagagac tattaagatt gtgattgaag attatgtgca
     1141 acacttgagt ggctatcact tcaaactgaa atttgaccca gaactacttt tcaacaaaca
     1201 attccagtac caaaatcgta ttgctgctga atttaacacc ctctatcact ggcatcccct
     1261 tctgcctgac acctttcaaa ttcatgacca gaaatacaac tatcaacagt ttatctacaa
     1321 caactctata ttgctggaac atggaattac ccagtttgtt gaatcattca ccaggcaaat
     1381 tgctggcagg gttgctggtg gtaggaatgt tccacccgca gtacagaaag tatcacaggc
     1441 ttccattgac cagagcaggc agatgaaata ccagtctttt aatgagtacc gcaaacgctt
     1501 tatgctgaag ccctatgaat catttgaaga acttacagga gaaaaggaaa tgtctgcaga
     1561 gttggaagca ctctatggtg acatcgatgc tgtggagctg tatcctgccc ttctggtaga
     1621 aaagcctcgg ccagatgcca tctttggtga aaccatggta gaagttggag caccattctc
     1681 cttgaaagga cttatgggta atgttatatg ttctcctgcc tactggaagc caagcacttt
     1741 tggtggagaa gtgggttttc aaatcatcaa cactgcctca attcagtctc tcatctgcaa
     1801 taacgtgaag ggctgtccct ttacttcatt cagtgttcca gatccagagc tcattaaaac
     1861 agtcaccatc aatgcaagtt cttcccgctc cggactagat gatatcaatc ccacagtact
     1921 actaaaagaa cgttcgactg aactgtagaa gtctaatgat catatttatt tatttatatg
     1981 aaccatgtct attaatttaa ttatttaata atatttatat taaactcctt atgttactta
     2041 acatcttctg taacagaagt cagtactcct gttgcggaga aaggagtcat acttgtgaag
     2101 acttttatgt cactactcta aagattttgc tgttgctgtt aagtttggaa aacagttttt
     2161 attctgtttt ataaaccaga gagaaatgag ttttgacgtc tttttacttg aatttcaact
     2221 tatattataa gaacgaaagt aaagatgttt gaatacttaa acactgtcac aagatggcaa
     2281 aatgctgaaa gtttttacac tgtcgatgtt tccaatgcat cttccatgat gcattagaag
     2341 taactaatgt ttgaaatttt aaagtacttt tggttatttt tctgtcatca aacaaaaaca
     2401 ggtatcagtg cattattaaa tgaatattta aattagacat taccagtaat ttcatgtcta
     2461 ctttttaaaa tcagcaatga aacaataatt tgaaatttct aaattcatag ggtagaatca
     2521 cctgtaaaag cttgtttgat ttcttaaagt tattaaactt gtacatatac caaaaagaag
     2581 ctgtcttgga tttaaatctg taaaatcagt agaaatttta ctacaattgc ttgttaaaat
     2641 attttataag tgatgttcct ttttcaccaa gagtataaac ctttttagtg tgactgttaa
     2701 aacttccttt taaatcaaaa tgccaaattt attaaggtgg tggagccact gcagtgttat
     2761 cttaaaataa gaatattttg ttgagatatt ccagaatttg tttatatggc tggtaacatg
     2821 taaaatctat atcagcaaaa gggtctacct ttaaaataag caataacaaa gaagaaaacc
     2881 aaattattgt tcaaatttag gtttaaactt ttgaagcaaa ctttttttta tccttgtgca
     2941 ctgcaggcct ggtactcaga ttttgctatg aggttaatga agtaccaagc tgtgcttgaa
     3001 taatgatatg ttttctcaga ttttctgttg tacagtttaa tttagcagtc catatcacat
     3061 tgcaaaagta gcaatgacct cataaaatac ctcttcaaaa tgcttaaatt catttcacac
     3121 attaatttta tctcagtctt gaagccaatt cagtaggtgc attggaatca agcctggcta
     3181 cctgcatgct gttccttttc ttttcttctt ttagccattt tgctaagaga cacagtcttc
     3241 tcatcacttc gtttctccta ttttgtttta ctagttttaa gatcagagtt cactttcttt
     3301 ggactctgcc tatattttct tacctgaact tttgcaagtt ttcaggtaaa cctcagctca
     3361 ggactgctat ttagctcctc ttaagaagat taaaagagaa aaaaaaaggc ccttttaaaa
     3421 atagtataca cttattttaa gtgaaaagca gagaatttta tttatagcta attttagcta
     3481 tctgtaacca agatggatgc aaagaggcta gtgcctcaga gagaactgta cggggtttgt
     3541 gactggaaaa agttacgttc ccattctaat taatgccctt tcttatttaa aaacaaaacc
     3601 aaatgatatc taagtagttc tcagcaataa taataatgac gataatactt cttttccaca
     3661 tctcattgtc actgacattt aatggtactg tatattactt aatttattga agattattat
     3721 ttatgtctta ttaggacact atggttataa actgtgttta agcctacaat cattgatttt
     3781 tttttgttat gtcacaatca gtatattttc tttggggtta cctctctgaa tattatgtaa
     3841 acaatccaaa gaaatgattg tattaagatt tgtgaataaa tttttagaaa tctgattggc
     3901 atattgagat atttaaggtt gaatgtttgt ccttaggata ggcctatgtg ctagcccaca
     3961 aagaatattg tctcattagc ctgaatgtgc cataagactg accttttaaa atgttttgag
     4021 ggatctgtgg atgcttcgtt aatttgttca gccacaattt attgagaaaa tattctgtgt
     4081 caagcactgt gggttttaat atttttaaat caaacgctga ttacagataa tagtatttat
     4141 ataaataatt gaaaaaaatt ttcttttggg aagagggaga aaatgaaata aatatcatta
     4201 aagataactc aggagaatct tctttacaat tttacgttta gaatgtttaa ggttaagaaa
     4261 gaaatagtca atatgcttgt ataaaacact gttcactgtt ttttttaaaa aaaaaacttg
     4321 atttgttatt aacattgatc tgctgacaaa acctgggaat ttgggttgtg tatgcgaatg
     4381 tttcagtgcc tcagacaaat gtgtatttaa cttatgtaaa agataagtct ggaaataaat
     4441 gtctgtttat ttttgtacta tttaaaaatt gacagatctt ttctgaagat aaactttgat
     4501 tgtttctata
//
LOCUS       NM_000964               3275 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens retinoic acid receptor alpha (RARA), transcript variant
            1, mRNA.
ACCESSION   NM_000964
VERSION     NM_000964.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3275)
  AUTHORS   Wang QQ, Hussain L, Yu PH, Yang C, Zhu CY, Ma YF, Wang SC, Yang T,
            Kang YY, Yu WJ, Maimaitiyiming Y and Naranmandura H.
  TITLE     Hyperthermia promotes degradation of the acute promyelocytic
            leukemia driver oncoprotein ZBTB16/RARalpha
  JOURNAL   Acta Pharmacol Sin 44 (4), 822-831 (2023)
   PUBMED   36216898
  REMARK    GeneRIF: Hyperthermia promotes degradation of the acute
            promyelocytic leukemia driver oncoprotein ZBTB16/RARalpha.
REFERENCE   2  (bases 1 to 3275)
  AUTHORS   Villiers W, Kelly A, He X, Kaufman-Cook J, Elbasir A, Bensmail H,
            Lavender P, Dillon R, Mifsud B and Osborne CS.
  TITLE     Multi-omics and machine learning reveal context-specific gene
            regulatory activities of PML::RARA in acute promyelocytic leukemia
  JOURNAL   Nat Commun 14 (1), 724 (2023)
   PUBMED   36759620
  REMARK    GeneRIF: Multi-omics and machine learning reveal context-specific
            gene regulatory activities of PML::RARA in acute promyelocytic
            leukemia. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3275)
  AUTHORS   Catalano A, Dawson MA, Somana K, Opat S, Schwarer A, Campbell LJ and
            Iland H.
  TITLE     The PRKAR1A gene is fused to RARA in a new variant acute
            promyelocytic leukemia
  JOURNAL   Blood 110 (12), 4073-4076 (2007)
   PUBMED   17712046
REFERENCE   4  (bases 1 to 3275)
  AUTHORS   Wells RA, Catzavelos C and Kamel-Reid S.
  TITLE     Fusion of retinoic acid receptor alpha to NuMA, the nuclear mitotic
            apparatus protein, by a variant translocation in acute promyelocytic
            leukaemia
  JOURNAL   Nat Genet 17 (1), 109-113 (1997)
   PUBMED   9288109
REFERENCE   5  (bases 1 to 3275)
  AUTHORS   Chen Z, Guidez F, Rousselot P, Agadir A, Chen SJ, Wang ZY, Degos L,
            Zelent A, Waxman S and Chomienne C.
  TITLE     PLZF-RAR alpha fusion proteins generated from the variant
            t(11;17)(q23;q21) translocation in acute promyelocytic leukemia
            inhibit ligand-dependent transactivation of wild-type retinoic acid
            receptors
  JOURNAL   Proc Natl Acad Sci U S A 91 (3), 1178-1182 (1994)
   PUBMED   8302850
REFERENCE   6  (bases 1 to 3275)
  AUTHORS   Baniahmad A, Kohne AC and Renkawitz R.
  TITLE     A transferable silencing domain is present in the thyroid hormone
            receptor, in the v-erbA oncogene product and in the retinoic acid
            receptor
  JOURNAL   EMBO J 11 (3), 1015-1023 (1992)
   PUBMED   1347744
REFERENCE   7  (bases 1 to 3275)
  AUTHORS   Kastner P, Perez A, Lutz Y, Rochette-Egly C, Gaub MP, Durand B,
            Lanotte M, Berger R and Chambon P.
  TITLE     Structure, localization and transcriptional properties of two
            classes of retinoic acid receptor alpha fusion proteins in acute
            promyelocytic leukemia (APL): structural similarities with a new
            family of oncoproteins
  JOURNAL   EMBO J 11 (2), 629-642 (1992)
   PUBMED   1311253
REFERENCE   8  (bases 1 to 3275)
  AUTHORS   Kliewer SA, Umesono K, Mangelsdorf DJ and Evans RM.
  TITLE     Retinoid X receptor interacts with nuclear receptors in retinoic
            acid, thyroid hormone and vitamin D3 signalling
  JOURNAL   Nature 355 (6359), 446-449 (1992)
   PUBMED   1310351
REFERENCE   9  (bases 1 to 3275)
  AUTHORS   de The H, Lavau C, Marchio A, Chomienne C, Degos L and Dejean A.
  TITLE     The PML-RAR alpha fusion mRNA generated by the t(15;17)
            translocation in acute promyelocytic leukemia encodes a functionally
            altered RAR
  JOURNAL   Cell 66 (4), 675-684 (1991)
   PUBMED   1652369
REFERENCE   10  (bases 1 to 3275)
  AUTHORS   Brand NJ, Petkovich M and Chambon P.
  TITLE     Characterization of a functional promoter for the human retinoic
            acid receptor-alpha (hRAR-alpha)
  JOURNAL   Nucleic Acids Res 18 (23), 6799-6806 (1990)
   PUBMED   2175878
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1168678.1, BC008727.2
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000254066.10/ ENSP00000254066.5
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA061829.1, BC008727.2,
            X06614.1 and BM992549.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000964.3.
            Summary: This gene represents a nuclear retinoic acid receptor. The
            encoded protein, retinoic acid receptor alpha, regulates
            transcription in a ligand-dependent manner. This gene has been
            implicated in regulation of development, differentiation,
            apoptosis, granulopoeisis, and transcription of clock genes.
            Translocations between this locus and several other loci have been
            associated with acute promyelocytic leukemia. Alternatively spliced
            transcript variants have been found for this locus.[provided by
            RefSeq, Sep 2010].
            Transcript Variant: This variant (1) encodes the longest protein
            (isoform 1). Variants 1 and 3 encode the same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3275
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..3275
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="retinoic acid receptor alpha"
                     /db_xref="GeneID:5914"
                     /db_xref="HGNC:HGNC:9864"
                     /db_xref="MIM:180240"
     misc_feature    452..454
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="upstream in-frame stop codon"
     CDS             470..1858
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="isoform 1 is encoded by transcript variant 1;
                     retinoic acid receptor, alpha polypeptide;
                     nucleophosmin-retinoic acid receptor alpha fusion protein
                     NPM-RAR long form; PML-DDX5-RARA fusion; PML-DDX5-RARA
                     fusion protein; RAR-alpha; nuclear receptor subfamily 1
                     group B member 1"
                     /codon_start=1
                     /product="retinoic acid receptor alpha isoform 1"
                     /protein_id="NP_000955.1"
                     /db_xref="CCDS:CCDS11366.1"
                     /db_xref="GeneID:5914"
                     /db_xref="HGNC:HGNC:9864"
                     /db_xref="MIM:180240"
                     /translation="MASNSSSCPTPGGGHLNGYPVPPYAFFFPPMLGGLSPPGALTTLQ
                     HQLPVSGYSTPSPATIETQSSSSEEIVPSPPSPPPLPRIYKPCFVCQDKSSGYHYGVSA
                     CEGCKGFFRRSIQKNMVYTCHRDKNCIINKVTRNRCQYCRLQKCFEVGMSKESVRNDRN
                     KKKKEVPKPECSESYTLTPEVGELIEKVRKAHQETFPALCQLGKYTTNNSSEQRVSLDI
                     DLWDKFSELSTKCIIKTVEFAKQLPGFTTLTIADQITLLKAACLDILILRICTRYTPEQ
                     DTMTFSDGLTLNRTQMHNAGFGPLTDLVFAFANQLLPLEMDDAETGLLSAICLICGDRQ
                     DLEQPDRVDMLQEPLLEALKVYVRKRRPSRPHMFPKMLMKITDLRSISAKGAERVITLK
                     MEIPGSMPPLIQEMLENSEGLDTLSGQPGGGGRDGGGLAPPPGSCSPSLSPSSNRSSPA
                     THSP"
     misc_feature    470..730
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="propagated from UniProtKB/Swiss-Prot (P10276.2);
                     Region: Modulating"
     misc_feature    623..700
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="propagated from UniProtKB/Swiss-Prot (P10276.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    647..652
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="Breakpoint for translocation to form PLZF-RAR-alpha,
                     RAR-alpha1-PLZF and PML-RAR-alpha oncogenes; propagated
                     from UniProtKB/Swiss-Prot (P10276.2); other site"
     misc_feature    698..700
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="Phosphoserine, by CDK7.
                     /evidence=ECO:0000250|UniProtKB:P11416; propagated from
                     UniProtKB/Swiss-Prot (P10276.2); phosphorylation site"
     misc_feature    755..757
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="Phosphoserine, by PKB/AKT1.
                     /evidence=ECO:0000269|PubMed:16417524; propagated from
                     UniProtKB/Swiss-Prot (P10276.2); phosphorylation site"
     misc_feature    929..1015
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="propagated from UniProtKB/Swiss-Prot (P10276.2);
                     Region: Hinge"
     misc_feature    1124..1126
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:20215566; propagated from
                     UniProtKB/Swiss-Prot (P10276.2); phosphorylation site"
     misc_feature    1574..1576
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:20215566; propagated from
                     UniProtKB/Swiss-Prot (P10276.2); phosphorylation site"
     misc_feature    1679..1726
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="propagated from UniProtKB/Swiss-Prot (P10276.2);
                     Region: Required for binding corepressor NCOR1"
     misc_feature    1691..1717
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="propagated from UniProtKB/Swiss-Prot (P10276.2);
                     Region: 9aaTAD. /evidence=ECO:0000269|PubMed:30468856"
     misc_feature    1724..1855
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="propagated from UniProtKB/Swiss-Prot (P10276.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2404..2409
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="hexamer: AATAAG"
     polyA_site      2428
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="major polyA site"
     regulatory      3255..3260
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="hexamer: AATAAA"
     polyA_site      3275
                     /gene="RARA"
                     /gene_synonym="NR1B1; RAR; RARalpha"
                     /note="major polyA site"
ORIGIN
        1 gcagcagcct aacccagaag caggggggaa tcctgaatcg agctgagagg gcttccccgg
       61 ttctcctggg aaccccatcg gccccctgcc agcacacacc tgagcagcat cacaggacat
      121 ggccccctca gccacctagc tggggcccat ctaggagtgg catctttttt ggtgccctga
      181 aggccagctc tggaccttcc caggaaaagt gccagctcac agaactgctt gaccaaagga
      241 ccggctcttg agacatcccc caacccacct ggcccccagc tagggtgggg gctccaggag
      301 actgagatta gcctgccctc tttggacagc agctccagga cagggcgggt gggctgacca
      361 cccaaacccc atctgggccc aggccccatg ccccgaggag gggtggtctg aagcccacca
      421 gagccccctg ccagactgtc tgcctccctt ctgactgtgg ccgcttggca tggccagcaa
      481 cagcagctcc tgcccgacac ctgggggcgg gcacctcaat gggtacccgg tgcctcccta
      541 cgccttcttc ttccccccta tgctgggtgg actctccccg ccaggcgctc tgaccactct
      601 ccagcaccag cttccagtta gtggatatag cacaccatcc ccagccacca ttgagaccca
      661 gagcagcagt tctgaagaga tagtgcccag ccctccctcg ccaccccctc taccccgcat
      721 ctacaagcct tgctttgtct gtcaggacaa gtcctcaggc taccactatg gggtcagcgc
      781 ctgtgagggc tgcaagggct tcttccgccg cagcatccag aagaacatgg tgtacacgtg
      841 tcaccgggac aagaactgca tcatcaacaa ggtgacccgg aaccgctgcc agtactgccg
      901 actgcagaag tgctttgaag tgggcatgtc caaggagtct gtgagaaacg accgaaacaa
      961 gaagaagaag gaggtgccca agcccgagtg ctctgagagc tacacgctga cgccggaggt
     1021 gggggagctc attgagaagg tgcgcaaagc gcaccaggaa accttccctg ccctctgcca
     1081 gctgggcaaa tacactacga acaacagctc agaacaacgt gtctctctgg acattgacct
     1141 ctgggacaag ttcagtgaac tctccaccaa gtgcatcatt aagactgtgg agttcgccaa
     1201 gcagctgccc ggcttcacca ccctcaccat cgccgaccag atcaccctcc tcaaggctgc
     1261 ctgcctggac atcctgatcc tgcggatctg cacgcggtac acgcccgagc aggacaccat
     1321 gaccttctcg gacgggctga ccctgaaccg gacccagatg cacaacgctg gcttcggccc
     1381 cctcaccgac ctggtctttg ccttcgccaa ccagctgctg cccctggaga tggatgatgc
     1441 ggagacgggg ctgctcagcg ccatctgcct catctgcgga gaccgccagg acctggagca
     1501 gccggaccgg gtggacatgc tgcaggagcc gctgctggag gcgctaaagg tctacgtgcg
     1561 gaagcggagg cccagccgcc cccacatgtt ccccaagatg ctaatgaaga ttactgacct
     1621 gcgaagcatc agcgccaagg gggctgagcg ggtgatcacg ctgaagatgg agatcccggg
     1681 ctccatgccg cctctcatcc aggaaatgtt ggagaactca gagggcctgg acactctgag
     1741 cggacagccg gggggtgggg ggcgggacgg gggtggcctg gcccccccgc caggcagctg
     1801 tagccccagc ctcagcccca gctccaacag aagcagcccg gccacccact ccccgtgacc
     1861 gcccacgcca catggacaca gccctcgccc tccgccccgg cttttctctg cctttctacc
     1921 gaccatgtga ccccgcacca gccctgcccc cacctgccct cccgggcagt actggggacc
     1981 ttccctgggg gacggggagg gaggaggcag cgactccttg gacagaggcc tgggccctca
     2041 gtggactgcc tgctcccaca gcctgggctg acgtcagagg ccgaggccag gaactgagtg
     2101 aggcccctgg tcctgggtct caggatgggt cctgggggcc tcgtgttcat caagacaccc
     2161 ctctgcccag ctcaccacat cttcatcacc agcaaacgcc aggacttggc tcccccatcc
     2221 tcagaactca caagccattg ctccccagct ggggaacctc aacctccccc ctgcctcggt
     2281 tggtgacaga gggggtggga caggggcggg gggttccccc tgtacatacc ctgccatacc
     2341 aaccccaggt attaattctc gctggttttg tttttatttt aatttttttg ttttgatttt
     2401 tttaataaga attttcattt taagcacatt tatactgaag gaatttgtgc tgtgtattgg
     2461 ggggagctgg atccagagct ggagggggtg ggtccggggg agggagtggc tcggaagggg
     2521 cccccactct cctttcatgt ccctgtgccc cccagttctc ctcctcagcc ttttcctcct
     2581 cagttttctc tttaaaactg tgaagtacta actttccaag gcctgccttc ccctccctcc
     2641 cactggagaa gccgccagcc cctttctccc tctgcctgac cactgggtgt ggacggtgtg
     2701 gggcagccct gaaaggacag gctcctggcc ttggcacttg cctgcaccca ccatgaggca
     2761 tggagcaggg cagagcaagg gccccgggac agagttttcc cagacctggc tcctcggcag
     2821 agctgcctcc cgtcagggcc cacatcatct aggctcccca gcccccactg tgaaggggct
     2881 ggccaggggc ccgagctgcc cccacccccg gcctcagcca ccagcacccc catagggccc
     2941 ccagacacca cacacatgcg cgtgcgcaca cacacaaaca cacacacact ggacagtaga
     3001 tgggccgaca cacacttggc ccgagttcct ccatttccct ggcctgcccc ccacccccaa
     3061 cctgtcccac ccccgtgccc cctccttacc ccgcaggacg ggcctacagg ggggtctccc
     3121 ctcacccctg cacccccagc tgggggagct ggctctgccc cgacctcctt caccaggggt
     3181 tggggcccct tcccctggag cccgtgggtg cacctgttac tgttgggctt tccactgaga
     3241 tctactggat aaagaataaa gttctattta ttcta
//
LOCUS       NM_000965               3132 bp    mRNA    linear   PRI 19-MAR-2023
DEFINITION  Homo sapiens retinoic acid receptor beta (RARB), transcript variant
            1, mRNA.
ACCESSION   NM_000965
VERSION     NM_000965.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3132)
  AUTHORS   Petty WJ, Li N, Biddle A, Bounds R, Nitkin C, Ma Y, Dragnev KH,
            Freemantle SJ and Dmitrovsky E.
  TITLE     A novel retinoic acid receptor beta isoform and retinoid resistance
            in lung carcinogenesis
  JOURNAL   J Natl Cancer Inst 97 (22), 1645-1651 (2005)
   PUBMED   16288117
  REMARK    GeneRIF: In H358 lung cancer cells transiently transfected with
            RARbeta1', RA treatment restored target gene expression compared
            with that in vector-transfected cells and suppressed cell growth
            compared with that in untreated cells.
REFERENCE   2  (bases 1 to 3132)
  AUTHORS   Peng X, Mehta RG, Tonetti DA and Christov K.
  TITLE     Identification of novel RARbeta2 transcript variants with short
            5'-UTRs in normal and cancerous breast epithelial cells
  JOURNAL   Oncogene 24 (7), 1296-1301 (2005)
   PUBMED   15558014
REFERENCE   3  (bases 1 to 3132)
  AUTHORS   Peng X, Maruo T, Cao Y, Punj V, Mehta R, Das Gupta TK and Christov
            K.
  TITLE     A novel RARbeta isoform directed by a distinct promoter P3 and
            mediated by retinoic acid in breast cancer cells
  JOURNAL   Cancer Res 64 (24), 8911-8918 (2004)
   PUBMED   15604252
REFERENCE   4  (bases 1 to 3132)
  AUTHORS   Jin P, Fu GK, Wilson AD, Yang J, Chien D, Hawkins PR, Au-Young J and
            Stuve LL.
  TITLE     PCR isolation and cloning of novel splice variant mRNAs from known
            drug target genes
  JOURNAL   Genomics 83 (4), 566-571 (2004)
   PUBMED   15028279
REFERENCE   5  (bases 1 to 3132)
  AUTHORS   Chen LI, Sommer KM and Swisshelm K.
  TITLE     Downstream codons in the retinoic acid receptor beta -2 and beta -4
            mRNAs initiate translation of a protein isoform that disrupts
            retinoid-activated transcription
  JOURNAL   J Biol Chem 277 (38), 35411-35421 (2002)
   PUBMED   12118004
  REMARK    GeneRIF: downstream codons in mRNAs initiate translation of a
            protein isoform that disrupts retinoid-activated transcription
REFERENCE   6  (bases 1 to 3132)
  AUTHORS   Sommer KM, Chen LI, Treuting PM, Smith LT and Swisshelm K.
  TITLE     Elevated retinoic acid receptor beta(4) protein in human breast
            tumor cells with nuclear and cytoplasmic localization
  JOURNAL   Proc Natl Acad Sci U S A 96 (15), 8651-8656 (1999)
   PUBMED   10411930
REFERENCE   7  (bases 1 to 3132)
  AUTHORS   Houle B, Pelletier M, Wu J, Goodyer C and Bradley WE.
  TITLE     Fetal isoform of human retinoic acid receptor beta expressed in
            small cell lung cancer lines
  JOURNAL   Cancer Res 54 (2), 365-369 (1994)
   PUBMED   8275470
REFERENCE   8  (bases 1 to 3132)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301552
REFERENCE   9  (bases 1 to 3132)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301533
REFERENCE   10  (bases 1 to 3132)
  AUTHORS   Nagpal S, Zelent A and Chambon P.
  TITLE     RAR-beta 4, a retinoic acid receptor isoform is generated from
            RAR-beta 2 by alternative splicing and usage of a CUG initiator
            codon
  JOURNAL   Proc Natl Acad Sci U S A 89 (7), 2718-2722 (1992)
   PUBMED   1313565
REFERENCE   11  (bases 1 to 3132)
  AUTHORS   de The H, Marchio A, Tiollais P and Dejean A.
  TITLE     A novel steroid thyroid hormone receptor-related gene
            inappropriately expressed in human hepatocellular carcinoma
  JOURNAL   Nature 330 (6149), 667-670 (1987)
   PUBMED   2825037
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC030234.1, SRR14038193.2999182.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000330688.9/ ENSP00000332296.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            regulatory uORF             :: PMID: 15558014
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC098477.2, AC133141.2 and
            AC093416.2.
            This sequence is a reference standard in the RefSeqGene project.
            On May 21, 2020 this sequence version replaced NM_000965.4.
            Summary: This gene encodes retinoic acid receptor beta, a member of
            the thyroid-steroid hormone receptor superfamily of nuclear
            transcriptional regulators. This receptor localizes to the
            cytoplasm and to subnuclear compartments. It binds retinoic acid,
            the biologically active form of vitamin A which mediates cellular
            signalling in embryonic morphogenesis, cell growth and
            differentiation. It is thought that this protein limits growth of
            many cell types by regulating gene expression. The gene was first
            identified in a hepatocellular carcinoma where it flanks a
            hepatitis B virus integration site. Alternate promoter usage and
            differential splicing result in multiple transcript variants.
            [provided by RefSeq, Mar 2014].
            Transcript Variant: This variant (1), also known as beta-2, is a
            predominant transcript. This variant can initiate translation from
            an upstream AUG site and also from a downstream, in-frame AUG site
            (PMID: 12118004). The isoform (1) represented in this RefSeq is
            derived from the upstream AUG start codon.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3132
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.2"
     gene            1..3132
                     /gene="RARB"
                     /gene_synonym="HAP; MCOPS12; NR1B2; RARbeta; RARbeta1;
                     RRB2"
                     /note="retinoic acid receptor beta"
                     /db_xref="GeneID:5915"
                     /db_xref="HGNC:HGNC:9865"
                     /db_xref="MIM:180220"
     regulatory      80..94
                     /regulatory_class="uORF"
                     /gene="RARB"
                     /gene_synonym="HAP; MCOPS12; NR1B2; RARbeta; RARbeta1;
                     RRB2"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:15558014]"
                     /note="this uORF is predicted to encode a 4 aa peptide
                     (PMID:15558014)"
     regulatory      103..156
                     /regulatory_class="uORF"
                     /gene="RARB"
                     /gene_synonym="HAP; MCOPS12; NR1B2; RARbeta; RARbeta1;
                     RRB2"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:15558014]"
                     /note="this uORF is predicted to encode a 17 aa peptide
                     (PMID:15558014)"
     regulatory      267..329
                     /regulatory_class="uORF"
                     /gene="RARB"
                     /gene_synonym="HAP; MCOPS12; NR1B2; RARbeta; RARbeta1;
                     RRB2"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:15558014]"
                     /note="this uORF is predicted to encode a 20 aa peptide
                     (PMID:15558014)"
     regulatory      274..429
                     /regulatory_class="uORF"
                     /gene="RARB"
                     /gene_synonym="HAP; MCOPS12; NR1B2; RARbeta; RARbeta1;
                     RRB2"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:15558014]"
                     /note="this uORF is predicted to encode a 51 aa peptide
                     (PMID:15558014)"
     regulatory      326..385
                     /regulatory_class="uORF"
                     /gene="RARB"
                     /gene_synonym="HAP; MCOPS12; NR1B2; RARbeta; RARbeta1;
                     RRB2"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:15558014]"
                     /note="this uORF is predicted to encode a 19 aa peptide
                     (PMID:15558014)"
     regulatory      407..436
                     /regulatory_class="uORF"
                     /gene="RARB"
                     /gene_synonym="HAP; MCOPS12; NR1B2; RARbeta; RARbeta1;
                     RRB2"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:15558014]"
                     /note="this uORF is predicted to encode a 9 aa peptide
                     (PMID:15558014)"
     misc_feature    434..436
                     /gene="RARB"
                     /gene_synonym="HAP; MCOPS12; NR1B2; RARbeta; RARbeta1;
                     RRB2"
                     /note="upstream in-frame stop codon"
     CDS             470..1816
                     /gene="RARB"
                     /gene_synonym="HAP; MCOPS12; NR1B2; RARbeta; RARbeta1;
                     RRB2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     retinoic acid receptor, beta polypeptide; hepatitis B virus
                     activated protein; HBV-activated protein; RAR-epsilon;
                     RAR-beta; nuclear receptor subfamily 1 group B member 2"
                     /codon_start=1
                     /product="retinoic acid receptor beta isoform 1"
                     /protein_id="NP_000956.2"
                     /db_xref="CCDS:CCDS2642.1"
                     /db_xref="GeneID:5915"
                     /db_xref="HGNC:HGNC:9865"
                     /db_xref="MIM:180220"
                     /translation="MFDCMDVLSVSPGQILDFYTASPSSCMLQEKALKACFSGLTQTEW
                     QHRHTAQSIETQSTSSEELVPSPPSPLPPPRVYKPCFVCQDKSSGYHYGVSACEGCKGF
                     FRRSIQKNMIYTCHRDKNCVINKVTRNRCQYCRLQKCFEVGMSKESVRNDRNKKKKETS
                     KQECTESYEMTAELDDLTEKIRKAHQETFPSLCQLGKYTTNSSADHRVRLDLGLWDKFS
                     ELATKCIIKIVEFAKRLPGFTGLTIADQITLLKAACLDILILRICTRYTPEQDTMTFSD
                     GLTLNRTQMHNAGFGPLTDLVFTFANQLLPLEMDDTETGLLSAICLICGDRQDLEEPTK
                     VDKLQEPLLEALKIYIRKRRPSKPHMFPKILMKITDLRSISAKGAERVITLKMEIPGSM
                     PPLIQEMLENSEGHEPLTPSSSGNTAEHSPSISPSSVENSGVSQSPLVQ"
     regulatory      3116..3121
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RARB"
                     /gene_synonym="HAP; MCOPS12; NR1B2; RARbeta; RARbeta1;
                     RRB2"
                     /note="hexamer: AATATA"
     polyA_site      3132
                     /gene="RARB"
                     /gene_synonym="HAP; MCOPS12; NR1B2; RARbeta; RARbeta1;
                     RRB2"
                     /note="major polyA site"
ORIGIN
        1 gtgacagaag tagtaggaag tgagctgttc agaggcagga gggtctattc tttgccaaag
       61 gggggaccag aattccccca tgcgagctgt ttgaggactg ggatgccgag aacgcgagcg
      121 atccgagcag ggtttgtctg ggcaccgtcg gggtaggatc cggaacgcat tcggaaggct
      181 ttttgcaagc atttacttgg aaggagaact tgggatcttt ctgggaaccc cccgccccgg
      241 ctggattggc cgagcaagcc tggaaaatgg taaatgatca tttggatcaa ttacaggctt
      301 ttagctggct tgtctgtcat aattcatgat tcggggctgg gaaaaagacc aacagcctac
      361 gtgccaaaaa aggggcagag tttgatggag ttgggtggac ttttctatgc catttgcctc
      421 cacacctaga ggataagcac ttttgcagac attcagtgca agggagatca tgtttgactg
      481 tatggatgtt ctgtcagtga gtcctgggca aatcctggat ttctacactg cgagtccgtc
      541 ttcctgcatg ctccaggaga aagctctcaa agcatgcttc agtggattga cccaaaccga
      601 atggcagcat cggcacactg ctcaatcaat tgaaacacag agcaccagct ctgaggaact
      661 cgtcccaagc cccccatctc cacttcctcc ccctcgagtg tacaaaccct gcttcgtctg
      721 ccaggacaaa tcatcagggt accactatgg ggtcagcgcc tgtgagggat gtaagggctt
      781 tttccgcaga agtattcaga agaatatgat ttacacttgt caccgagata agaactgtgt
      841 tattaataaa gtcaccagga atcgatgcca atactgtcga ctccagaagt gctttgaagt
      901 gggaatgtcc aaagaatctg tcaggaatga caggaacaag aaaaagaagg agacttcgaa
      961 gcaagaatgc acagagagct atgaaatgac agctgagttg gacgatctca cagagaagat
     1021 ccgaaaagct caccaggaaa ctttcccttc actctgccag ctgggtaaat acaccacgaa
     1081 ttccagtgct gaccatcgag tccgactgga cctgggcctc tgggacaaat tcagtgaact
     1141 ggccaccaag tgcattatta agatcgtgga gtttgctaaa cgtctgcctg gtttcactgg
     1201 cttgaccatc gcagaccaaa ttaccctgct gaaggccgcc tgcctggaca tcctgattct
     1261 tagaatttgc accaggtata ccccagaaca agacaccatg actttctcag acggccttac
     1321 cctaaatcga actcagatgc acaatgctgg atttggtcct ctgactgacc ttgtgttcac
     1381 ctttgccaac cagctcctgc ctttggaaat ggatgacaca gaaacaggcc ttctcagtgc
     1441 catctgctta atctgtggag accgccagga ccttgaggaa ccgacaaaag tagataagct
     1501 acaagaacca ttgctggaag cactaaaaat ttatatcaga aaaagacgac ccagcaagcc
     1561 tcacatgttt ccaaagatct taatgaaaat cacagatctc cgtagcatca gtgctaaagg
     1621 tgcagagcgt gtaattacct tgaaaatgga aattcctgga tcaatgccac ctctcattca
     1681 agaaatgctg gagaattctg aaggacatga acccttgacc ccaagttcaa gtgggaacac
     1741 agcagagcac agtcctagca tctcacccag ctcagtggaa aacagtgggg tcagtcagtc
     1801 accactcgtg caataagaca ttttctagct acttcaaaca ttccccagta ccttcagttc
     1861 caggatttaa aatgcaagaa aaaacatttt tactgctgct tagtttttgg actgaaaaga
     1921 tattaaaact caagaaggac caagaagttt tcatatgtat caatatatat actcctcact
     1981 gtgtaactta cctagaaata caaacttttc caattttaaa aaatcagcca tttcatgcaa
     2041 ccagaaacta gttaaaagct tctattttcc tctttgaaca ctcaagattg catggcaaag
     2101 acccagtcaa aatgatttac ccctggttaa gtttctgaag actttgtaca tacagaagta
     2161 tggctctgtt ctttctatac tgtatgtttg gtgctttcct tttgtcttgc atactcaaaa
     2221 taaccatgac accaaggtta tgaaatagac tactgtacac gtctacctag gttcaaaaag
     2281 ataactgtct tgctttcatg gaatagtcaa gacatcaagg taaggaaaca ggactattga
     2341 caggactatt gtacagtatg acaagataag gctgaagata ttctacttta gttagtatgg
     2401 aagcttgtct ttgctctttc tgatgctctc aaactgcatc ttttatttca tgttgcccag
     2461 taaaagtata caaattccct gcactagcag aagagaattc tgtatcagtg taactgccag
     2521 ttcagttaat caaatgtcat ttgttcaatt gttaatgtca ctttaaatta aaagtggttt
     2581 attacttgtt taatgacata actacacagt tagttaaaaa aaattttttt acagtaatga
     2641 tagcctccaa ggcagaaaca cttttcagtg ttaagttttt gtttacttgt tcacaagcca
     2701 ttagggaaat ttcatgggat aattagcagg ctggtctacc acctggacca tgtaactcta
     2761 gtgtccttcc tgattcatgc ctgatattgg gatttttttt tccagccttc ttgatgccaa
     2821 ggggctaatt aatattaaca actcccaaag aaacaggcat agaatctgcc tcctttgacc
     2881 ttgttcaatc actatgaagc agagtgaaag ctgtggtaga gtggttaaca gatacaagtg
     2941 tcagtttctt agttctcatt taagcactag tggaattttt tttttttgat atattagcaa
     3001 gtctgtgatg tactttcact ggctctgttt gtacattgag attgtttgtt taacaatgct
     3061 ttctatgttc atatactgtt tacctttttc catggagtct cctggcaaag aataaaatat
     3121 atttatttta aa
//
LOCUS       NM_000966               2917 bp    mRNA    linear   PRI 22-JAN-2023
DEFINITION  Homo sapiens retinoic acid receptor gamma (RARG), transcript variant
            1, mRNA.
ACCESSION   NM_000966
VERSION     NM_000966.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2917)
  AUTHORS   Ji K, Dou W, Zhang N, Wen B, Zhong M, Zhang Q, Xu S, Zhou J and Liu
            J.
  TITLE     Retinoic acid receptor gamma is required for proliferation of
            pancreatic cancer cells
  JOURNAL   Cell Biol Int 47 (1), 144-155 (2023)
   PUBMED   36183362
  REMARK    GeneRIF: Retinoic acid receptor gamma is required for proliferation
            of pancreatic cancer cells.
REFERENCE   2  (bases 1 to 2917)
  AUTHORS   Homma H, Watanabe M, Inoue N, Isono M, Hidaka Y and Iwatani Y.
  TITLE     Polymorphisms in Vitamin A-Related Genes and Their Functions in
            Autoimmune Thyroid Disease
  JOURNAL   Thyroid 31 (11), 1749-1756 (2021)
   PUBMED   34470463
  REMARK    GeneRIF: Polymorphisms in Vitamin A-Related Genes and Their
            Functions in Autoimmune Thyroid Disease.
REFERENCE   3  (bases 1 to 2917)
  AUTHORS   Taei A, Kiani T, Taghizadeh Z, Moradi S, Samadian A, Mollamohammadi
            S, Sharifi-Zarchi A, Guenther S, Akhlaghpour A, Asgari Abibeiglou B,
            Najar-Asl M, Karamzadeh R, Khalooghi K, Braun T, Hassani SN and
            Baharvand H.
  TITLE     Temporal activation of LRH-1 and RAR-gamma in human pluripotent stem
            cells induces a functional naive-like state
  JOURNAL   EMBO Rep 21 (10), e47533 (2020)
   PUBMED   33252195
  REMARK    GeneRIF: Temporal activation of LRH-1 and RAR-gamma in human
            pluripotent stem cells induces a functional naive-like state.
REFERENCE   4  (bases 1 to 2917)
  AUTHORS   Christidi E, Huang H, Shafaattalab S, Maillet A, Lin E, Huang K,
            Laksman Z, Davis MK, Tibbits GF and Brunham LR.
  TITLE     Variation in RARG increases susceptibility to doxorubicin-induced
            cardiotoxicity in patient specific induced pluripotent stem
            cell-derived cardiomyocytes
  JOURNAL   Sci Rep 10 (1), 10363 (2020)
   PUBMED   32587261
  REMARK    GeneRIF: Variation in RARG increases susceptibility to
            doxorubicin-induced cardiotoxicity in patient specific induced
            pluripotent stem cell-derived cardiomyocytes. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 2917)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 2917)
  AUTHORS   Lehmann JM, Zhang XK and Pfahl M.
  TITLE     RAR gamma 2 expression is regulated through a retinoic acid response
            element embedded in Sp1 sites
  JOURNAL   Mol Cell Biol 12 (7), 2976-2985 (1992)
   PUBMED   1320193
REFERENCE   7  (bases 1 to 2917)
  AUTHORS   Vollberg TM Sr, Nervi C, George MD, Fujimoto W, Krust A and Jetten
            AM.
  TITLE     Retinoic acid receptors as regulators of human epidermal
            keratinocyte differentiation
  JOURNAL   Mol Endocrinol 6 (5), 667-676 (1992)
   PUBMED   1318502
REFERENCE   8  (bases 1 to 2917)
  AUTHORS   Leid M, Kastner P, Lyons R, Nakshatri H, Saunders M, Zacharewski T,
            Chen JY, Staub A, Garnier JM, Mader S et al.
  TITLE     Purification, cloning, and RXR identity of the HeLa cell factor with
            which RAR or TR heterodimerizes to bind target sequences efficiently
  JOURNAL   Cell 68 (2), 377-395 (1992)
   PUBMED   1310259
  REMARK    Erratum:[Cell. 1992 Nov 27;71(5):887. PMID: 1330328]
REFERENCE   9  (bases 1 to 2917)
  AUTHORS   Mattei MG, Riviere M, Krust A, Ingvarsson S, Vennstrom B, Islam MQ,
            Levan G, Kautner P, Zelent A, Chambon P et al.
  TITLE     Chromosomal assignment of retinoic acid receptor (RAR) genes in the
            human, mouse, and rat genomes
  JOURNAL   Genomics 10 (4), 1061-1069 (1991)
   PUBMED   1655630
REFERENCE   10  (bases 1 to 2917)
  AUTHORS   Lehmann JM, Hoffmann B and Pfahl M.
  TITLE     Genomic organization of the retinoic acid receptor gamma gene
  JOURNAL   Nucleic Acids Res 19 (3), 573-578 (1991)
   PUBMED   1849262
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC072462.1, SRR14038194.390989.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000425354.7/ ENSP00000388510.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA436501.1 and BC072462.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_000966.5.
            Summary: This gene encodes a retinoic acid receptor that belongs to
            the nuclear hormone receptor family. Retinoic acid receptors (RARs)
            act as ligand-dependent transcriptional regulators. When bound to
            ligands, RARs activate transcription by binding as heterodimers to
            the retinoic acid response elements (RARE) found in the promoter
            regions of the target genes. In their unbound form, RARs repress
            transcription of their target genes. RARs are involved in various
            biological processes, including limb bud development, skeletal
            growth, and matrix homeostasis. Alternatively spliced transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Aug 2011].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2917
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2917
                     /gene="RARG"
                     /gene_synonym="NR1B3; RARC; RARgamma"
                     /note="retinoic acid receptor gamma"
                     /db_xref="GeneID:5916"
                     /db_xref="HGNC:HGNC:9866"
                     /db_xref="MIM:180190"
     CDS             446..1810
                     /gene="RARG"
                     /gene_synonym="NR1B3; RARC; RARgamma"
                     /note="isoform 1 is encoded by transcript variant 1;
                     RAR-gamma; nuclear receptor subfamily 1 group B member 3"
                     /codon_start=1
                     /product="retinoic acid receptor gamma isoform 1"
                     /protein_id="NP_000957.1"
                     /db_xref="CCDS:CCDS8850.1"
                     /db_xref="GeneID:5916"
                     /db_xref="HGNC:HGNC:9866"
                     /db_xref="MIM:180190"
                     /translation="MATNKERLFAAGALGPGSGYPGAGFPFAFPGALRGSPPFEMLSPS
                     FRGLGQPDLPKEMASLSVETQSTSSEEMVPSSPSPPPPPRVYKPCFVCNDKSSGYHYGV
                     SSCEGCKGFFRRSIQKNMVYTCHRDKNCIINKVTRNRCQYCRLQKCFEVGMSKEAVRND
                     RNKKKKEVKEEGSPDSYELSPQLEELITKVSKAHQETFPSLCQLGKYTTNSSADHRVQL
                     DLGLWDKFSELATKCIIKIVEFAKRLPGFTGLSIADQITLLKAACLDILMLRICTRYTP
                     EQDTMTFSDGLTLNRTQMHNAGFGPLTDLVFAFAGQLLPLEMDDTETGLLSAICLICGD
                     RMDLEEPEKVDKLQEPLLEALRLYARRRRPSQPYMFPRMLMKITDLRGISTKGAERAIT
                     LKMEIPGPMPPLIREMLENPEMFEDDSSQPGPHPNASSEDEVPGGQGKGGLKSPA"
     misc_feature    446..712
                     /gene="RARG"
                     /gene_synonym="NR1B3; RARC; RARgamma"
                     /note="propagated from UniProtKB/Swiss-Prot (P13631.1);
                     Region: Modulating"
     misc_feature    545..547
                     /gene="RARG"
                     /gene_synonym="NR1B3; RARC; RARgamma"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P18911; propagated from
                     UniProtKB/Swiss-Prot (P13631.1); methylation site"
     misc_feature    617..694
                     /gene="RARG"
                     /gene_synonym="NR1B3; RARC; RARgamma"
                     /note="propagated from UniProtKB/Swiss-Prot (P13631.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    911..997
                     /gene="RARG"
                     /gene_synonym="NR1B3; RARC; RARgamma"
                     /note="propagated from UniProtKB/Swiss-Prot (P13631.1);
                     Region: Hinge"
     misc_feature    926..985
                     /gene="RARG"
                     /gene_synonym="NR1B3; RARC; RARgamma"
                     /note="propagated from UniProtKB/Swiss-Prot (P13631.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1667..1807
                     /gene="RARG"
                     /gene_synonym="NR1B3; RARC; RARgamma"
                     /note="propagated from UniProtKB/Swiss-Prot (P13631.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2898..2903
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RARG"
                     /gene_synonym="NR1B3; RARC; RARgamma"
                     /note="hexamer: AATAAA"
     polyA_site      2917
                     /gene="RARG"
                     /gene_synonym="NR1B3; RARC; RARgamma"
                     /note="major polyA site"
ORIGIN
        1 cgtgtccccg cctgcagagt cagtgtgcgg tttgggagaa aatgtgtcgg atattttggg
       61 gcggtcacgt gggcgggcgg gctccgagag gccccgggac agtcccagcc tagagccgtg
      121 cccccccagg agccccccag tacggcgagc cccggacatt gcgacgctcc atccaagaga
      181 ctgcccgacg ccgggacctc ggggctccgc cgcctccctt ccccctccca ctccagcagc
      241 tacggcccag ttccctcaac ctgacccagt atgtagaagc cagtctctgc aggcggccag
      301 cgggactttt ggaggcccag tgggcaggcc aggcagggcg ggtacggagc ctcccaggct
      361 ggggcagtgg gcatgggcag gggctgtggc tgaagacctc gcccgcccac tgcagacccc
      421 aggggactct cacaccgcag ctgccatggc caccaataag gagcgactct ttgcggctgg
      481 tgccctgggg cctggatctg gctacccagg ggcaggtttc cccttcgcct tcccaggggc
      541 actcaggggg tctccgcctt tcgagatgct gagccctagc ttccggggcc tgggccagcc
      601 tgacctcccc aaggagatgg cctctctgtc ggtggagaca cagagcacca gctcagagga
      661 gatggtgccc agctcgccct cgccccctcc gcctcctcgg gtctacaagc catgcttcgt
      721 gtgcaatgac aagtcctctg gctaccacta tggggtcagc tcttgtgaag gctgcaaggg
      781 cttctttcgc cgaagcatcc agaagaacat ggtgtacacg tgtcaccgcg acaaaaactg
      841 tatcatcaac aaggtgacca ggaatcgctg ccagtactgc cggctacaga agtgcttcga
      901 agtgggcatg tccaaggaag ctgtgcgaaa tgaccggaac aagaagaaga aagaggtgaa
      961 ggaagaaggg tcacctgaca gctatgagct gagccctcag ttagaagagc tcatcaccaa
     1021 ggtcagcaaa gcccatcagg agactttccc ctcgctctgc cagctgggca agtataccac
     1081 gaactccagt gcagaccacc gcgtgcagct ggatctgggg ctgtgggaca agttcagtga
     1141 gctggctacc aagtgcatca tcaagatcgt ggagtttgcc aagcggttgc ctggctttac
     1201 agggctcagc attgctgacc agatcactct gctcaaagct gcctgcctag atatcctgat
     1261 gctgcgtatc tgcacaaggt acaccccaga gcaggacacc atgaccttct ccgacgggct
     1321 gaccctgaac cggacccaga tgcacaatgc cggcttcggg cccctcacag accttgtctt
     1381 tgcctttgct gggcagctcc tgcccctgga gatggatgac accgagacag ggctgctcag
     1441 cgccatctgc ctcatctgcg gagaccgcat ggacctggag gagcccgaaa aagtggacaa
     1501 gctgcaggag ccactgctgg aagccctgag gctgtacgcc cggcgccggc ggcccagcca
     1561 gccctacatg ttcccaagga tgctaatgaa aatcaccgac ctccggggca tcagcactaa
     1621 gggagctgaa agggccatta ctctgaagat ggagattcca ggcccgatgc ctcccttaat
     1681 ccgagagatg ctggagaacc ctgaaatgtt tgaggatgac tcctcgcagc ctggtcccca
     1741 ccccaatgcc tctagcgagg atgaggttcc tgggggccag ggcaaagggg gcctgaagtc
     1801 cccagcctga ccagggcccc tgacctcccc gctgtggggg ttggggcttc aggcagcaga
     1861 ctgaccatct cccagaccgc cagtgactgg gggaggacct gctctgccct ctccccaccc
     1921 cttccaatga gctccttgtt tttgccaaag tttctagggg tgcctctgtg ttcatcccct
     1981 tcctgatcta accggctccc tcgccagtcc cgggggcctg ccctgctccc accaggagag
     2041 agggcaaagg gatgagcctg ggtttggact ctaaaatctc agcactgccc catgggtcct
     2101 agacttccca gggcaagagg aagaccctgc cattccacag ccccttcctc tgccaggtgc
     2161 ttggctctct gagagcaaac aggaacacta gagaccaaaa aggggacaaa ggagaagggc
     2221 tgagcccacc ttcttgctcc tacccttggt gcctaatgct gtgtgatgca cctgcagggt
     2281 gtgtgctagc ctctgtgccc cgtccttgtg ccaggtcaag gtgggggcag gctgggccct
     2341 gcatttctgg ggcaggaaca gagggtgaaa gggacagata gatgcaggtc cattctgcac
     2401 ctcttggctc gggtgcagag ttcaccctgt gccctccgtt ataagtccct cccccagccc
     2461 tgtcatgtgc cttgggctcc tcctgccctc catctcagcc attggggcag ggaccctcct
     2521 acactacaga ggggccaggg gatccctctc tccctagtgc cttccaccct ttactcccca
     2581 gagcagcttg gcccagggag gggggatgct gcttagctga tcccgccctg acccagagga
     2641 agcctctatt tatttattag cttttgttta caccgtggaa ttgacccctt cctccagggg
     2701 tcttgggtgg gggagcccag ggcccctgtg acccctcctt tcttcctcca atccccagtt
     2761 tgtatttagc tgccaaataa gattcccatt ggctccctgt gttctcttgg ggggtcaggg
     2821 tgctgtcccc tcccctctgt ttacatctcc cctctacccc gctgtatcgc atattgctga
     2881 gttttctatt tttgcaaaat aaagtgatgg aaactca
//
LOCUS       NM_000967               1296 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L3 (RPL3), transcript variant 1,
            mRNA.
ACCESSION   NM_000967
VERSION     NM_000967.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1296)
  AUTHORS   Deng N, Zhang X and Zhang Y.
  TITLE     BAIAP2L1 accelerates breast cancer progression and chemoresistance
            by activating AKT signaling through binding with ribosomal protein
            L3
  JOURNAL   Cancer Sci 114 (3), 764-780 (2023)
   PUBMED   36308067
  REMARK    GeneRIF: BAIAP2L1 accelerates breast cancer progression and
            chemoresistance by activating AKT signaling through binding with
            ribosomal protein L3.
REFERENCE   2  (bases 1 to 1296)
  AUTHORS   Du C, Wang T, Jia J, Li J, Xiao Y, Wang J, Mao P, Wang N, Shi L and
            Wang M.
  TITLE     Suppression of RPL34 Inhibits Tumor Cell Proliferation and Promotes
            Apoptosis in Glioblastoma
  JOURNAL   Appl Biochem Biotechnol 194 (8), 3494-3506 (2022)
   PUBMED   35377127
  REMARK    GeneRIF: Suppression of RPL34 Inhibits Tumor Cell Proliferation and
            Promotes Apoptosis in Glioblastoma.
REFERENCE   3  (bases 1 to 1296)
  AUTHORS   Matsuura-Suzuki E, Shimazu T, Takahashi M, Kotoshiba K, Suzuki T,
            Kashiwagi K, Sohtome Y, Akakabe M, Sodeoka M, Dohmae N, Ito T,
            Shinkai Y and Iwasaki S.
  TITLE     METTL18-mediated histidine methylation of RPL3 modulates translation
            elongation for proteostasis maintenance
  JOURNAL   Elife 11, e72780 (2022)
   PUBMED   35674491
  REMARK    GeneRIF: METTL18-mediated histidine methylation of RPL3 modulates
            translation elongation for proteostasis maintenance. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 1296)
  AUTHORS   Malecki JM, Odonohue MF, Kim Y, Jakobsson ME, Gessa L, Pinto R, Wu
            J, Davydova E, Moen A, Olsen JV, Thiede B, Gleizes PE, Leidel SA and
            Falnes PO.
  TITLE     Human METTL18 is a histidine-specific methyltransferase that targets
            RPL3 and affects ribosome biogenesis and function
  JOURNAL   Nucleic Acids Res 49 (6), 3185-3203 (2021)
   PUBMED   33693809
  REMARK    GeneRIF: Human METTL18 is a histidine-specific methyltransferase
            that targets RPL3 and affects ribosome biogenesis and function.
REFERENCE   5  (bases 1 to 1296)
  AUTHORS   Mosca L, Pagano M, Pecoraro A, Borzacchiello L, Mele L, Cacciapuoti
            G, Porcelli M, Russo G and Russo A.
  TITLE     S-Adenosyl-l-Methionine Overcomes uL3-Mediated Drug Resistance in
            p53 Deleted Colon Cancer Cells
  JOURNAL   Int J Mol Sci 22 (1), 103 (2020)
   PUBMED   33374288
  REMARK    GeneRIF: S-Adenosyl-l-Methionine Overcomes uL3-Mediated Drug
            Resistance in p53 Deleted Colon Cancer Cells. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 1296)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   7  (bases 1 to 1296)
  AUTHORS   Van Raay TJ, Connors TD, Klinger KW, Landes GM and Burn TC.
  TITLE     A novel ribosomal protein L3-like gene (RPL3L) maps to the autosomal
            dominant polycystic kidney disease gene region
  JOURNAL   Genomics 37 (2), 172-176 (1996)
   PUBMED   8921388
REFERENCE   8  (bases 1 to 1296)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 1296)
  AUTHORS   Reddy TR, Suhasini M, Rappaport J, Looney DJ, Kraus G and Wong-Staal
            F.
  TITLE     Molecular cloning and characterization of a TAR-binding nuclear
            factor from T cells
  JOURNAL   AIDS Res Hum Retroviruses 11 (6), 663-669 (1995)
   PUBMED   7576925
REFERENCE   10  (bases 1 to 1296)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.788490.1,
            SRR5189652.122410.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000216146.9/ ENSP00000346001.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AK130450.1, BC012146.1 and BC071666.1.
            On Nov 22, 2018 this sequence version replaced NM_000967.3.
            Summary: Ribosomes, the complexes that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L3P family of ribosomal proteins and it is located in the
            cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has
            been suggested that the protein contributes to tat-mediated
            transactivation. This gene is co-transcribed with several small
            nucleolar RNA genes, which are located in several of this gene's
            introns. Alternate transcriptional splice variants, encoding
            different isoforms, have been characterized. As is typical for
            genes encoding ribosomal proteins, there are multiple processed
            pseudogenes of this gene dispersed through the genome. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1296
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     gene            1..1296
                     /gene="RPL3"
                     /gene_synonym="ASC-1; L3; TARBP-B; uL3"
                     /note="ribosomal protein L3"
                     /db_xref="GeneID:6122"
                     /db_xref="HGNC:HGNC:10332"
                     /db_xref="MIM:604163"
     CDS             27..1238
                     /gene="RPL3"
                     /gene_synonym="ASC-1; L3; TARBP-B; uL3"
                     /EC_number="3.6.5.3"
                     /note="isoform a is encoded by transcript variant 1; 60S
                     ribosomal protein L3; HIV-1 TAR RNA-binding protein B;
                     large ribosomal subunit protein uL3"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL3 isoform a"
                     /protein_id="NP_000958.1"
                     /db_xref="CCDS:CCDS13988.1"
                     /db_xref="GeneID:6122"
                     /db_xref="HGNC:HGNC:10332"
                     /db_xref="MIM:604163"
                     /translation="MSHRKFSAPRHGSLGFLPRKRSSRHRGKVKSFPKDDPSKPVHLTA
                     FLGYKAGMTHIVREVDRPGSKVNKKEVVEAVTIVETPPMVVVGIVGYVETPRGLRTFKT
                     VFAEHISDECKRRFYKNWHKSKKKAFTKYCKKWQDEDGKKQLEKDFSSMKKYCQVIRVI
                     AHTQMRLLPLRQKKAHLMEIQVNGGTVAEKLDWARERLEQQVPVNQVFGQDEMIDVIGV
                     TKGKGYKGVTSRWHTKKLPRKTHRGLRKVACIGAWHPARVAFSVARAGQKGYHHRTEIN
                     KKIYKIGQGYLIKDGKLIKNNASTDYDLSDKSINPLGGFVHYGEVTNDFVMLKGCVVGT
                     KKRVLTLRKSLLVQTKRRALEKIDLKFIDTTSKFGHGRFQTMEEKKAFMGPLKKDRIAK
                     EEGA"
     misc_feature    27..137
                     /gene="RPL3"
                     /gene_synonym="ASC-1; L3; TARBP-B; uL3"
                     /note="propagated from UniProtKB/Swiss-Prot (P39023.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    63..65
                     /gene="RPL3"
                     /gene_synonym="ASC-1; L3; TARBP-B; uL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P39023.2);
                     phosphorylation site"
     misc_feature    432..434
                     /gene="RPL3"
                     /gene_synonym="ASC-1; L3; TARBP-B; uL3"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P27659; propagated from
                     UniProtKB/Swiss-Prot (P39023.2); acetylation site"
     misc_feature    759..761
                     /gene="RPL3"
                     /gene_synonym="ASC-1; L3; TARBP-B; uL3"
                     /note="Tele-methylhistidine.
                     /evidence=ECO:0000269|PubMed:33693809,
                     ECO:0000269|PubMed:35674491; propagated from
                     UniProtKB/Swiss-Prot (P39023.2); methylation site"
     misc_feature    882..884
                     /gene="RPL3"
                     /gene_synonym="ASC-1; L3; TARBP-B; uL3"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P27659; propagated from
                     UniProtKB/Swiss-Prot (P39023.2); acetylation site"
     misc_feature    906..908
                     /gene="RPL3"
                     /gene_synonym="ASC-1; L3; TARBP-B; uL3"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P39023.2); acetylation site"
     misc_feature    936..938
                     /gene="RPL3"
                     /gene_synonym="ASC-1; L3; TARBP-B; uL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P39023.2); phosphorylation site"
     misc_feature    1122..1124
                     /gene="RPL3"
                     /gene_synonym="ASC-1; L3; TARBP-B; uL3"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P39023.2); acetylation site"
     misc_feature    1143..1145
                     /gene="RPL3"
                     /gene_synonym="ASC-1; L3; TARBP-B; uL3"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P27659; propagated from
                     UniProtKB/Swiss-Prot (P39023.2); acetylation site"
     regulatory      1273..1278
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL3"
                     /gene_synonym="ASC-1; L3; TARBP-B; uL3"
                     /note="hexamer: AATAAA"
     polyA_site      1296
                     /gene="RPL3"
                     /gene_synonym="ASC-1; L3; TARBP-B; uL3"
                     /note="major polyA site"
ORIGIN
        1 ctctaccggc gggatttgat ggcgtgatgt ctcacagaaa gttctccgct cccagacatg
       61 ggtccctcgg cttcctgcct cggaagcgca gcagcaggca tcgtgggaag gtgaagagct
      121 tccctaagga tgacccgtcc aagccggtcc acctcacagc cttcctggga tacaaggctg
      181 gcatgactca catcgtgcgg gaagtcgaca ggccgggatc caaggtgaac aagaaggagg
      241 tggtggaggc tgtgaccatt gtagagacac cacccatggt ggttgtgggc attgtgggct
      301 acgtggaaac ccctcgaggc ctccggacct tcaagactgt ctttgctgag cacatcagtg
      361 atgaatgcaa gaggcgtttc tataagaatt ggcataaatc taagaagaag gcctttacca
      421 agtactgcaa gaaatggcag gatgaggatg gcaagaagca gctggagaag gacttcagca
      481 gcatgaagaa gtactgccaa gtcatccgtg tcattgccca cacccagatg cgcctgcttc
      541 ctctgcgcca gaagaaggcc cacctgatgg agatccaggt gaacggaggc actgtggccg
      601 agaagctgga ctgggcccgc gagaggcttg agcagcaggt acctgtgaac caagtgtttg
      661 ggcaggatga gatgatcgac gtcatcgggg tgaccaaggg caaaggctac aaaggggtca
      721 ccagtcgttg gcacaccaag aagctgcccc gcaagaccca ccgaggcctg cgcaaggtgg
      781 cctgtattgg ggcatggcat cctgctcgtg tagccttctc tgtggcacgc gctgggcaga
      841 aaggctacca tcaccgcact gagatcaaca agaagattta taagattggc cagggctacc
      901 ttatcaagga cggcaagctg atcaagaaca atgcctccac tgactatgac ctatctgaca
      961 agagcatcaa ccctctgggt ggctttgtcc actatggtga agtgaccaat gactttgtca
     1021 tgctgaaagg ctgtgtggtg ggaaccaaga agcgggtgct caccctccgc aagtccttgc
     1081 tggtgcagac gaagcggcgg gctctggaga agattgacct taagttcatt gacaccacct
     1141 ccaagtttgg ccatggccgc ttccagacca tggaggagaa gaaagcattc atgggaccac
     1201 tgaagaaaga ccgaattgca aaggaagaag gagcttaatg ccaggaacag attttgcagt
     1261 tggtggggtc tcaataaaag ttattttcca ctgaca
//
LOCUS       NM_000968               2741 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L4 (RPL4), mRNA.
ACCESSION   NM_000968
VERSION     NM_000968.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2741)
  AUTHORS   Okuwaki M, Saito S, Hirawake-Mogi H and Nagata K.
  TITLE     The interaction between nucleophosmin/NPM1 and the large ribosomal
            subunit precursors contribute to maintaining the nucleolar structure
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1868 (1), 118879 (2021)
   PUBMED   33039556
  REMARK    GeneRIF: The interaction between nucleophosmin/NPM1 and the large
            ribosomal subunit precursors contribute to maintaining the nucleolar
            structure.
REFERENCE   2  (bases 1 to 2741)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2741)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2741)
  AUTHORS   Kennedy SA, Jarboui MA, Srihari S, Raso C, Bryan K, Dernayka L,
            Charitou T, Bernal-Llinares M, Herrera-Montavez C, Krstic A,
            Matallanas D, Kotlyar M, Jurisica I, Curak J, Wong V, Stagljar I,
            LeBihan T, Imrie L, Pillai P, Lynn MA, Fasterius E, Al-Khalili
            Szigyarto C, Breen J, Kiel C, Serrano L, Rauch N, Rukhlenko O,
            Kholodenko BN, Iglesias-Martinez LF, Ryan CJ, Pilkington R,
            Cammareri P, Sansom O, Shave S, Auer M, Horn N, Klose F, Ueffing M,
            Boldt K, Lynn DJ and Kolch W.
  TITLE     Extensive rewiring of the EGFR network in colorectal cancer cells
            expressing transforming levels of KRASG13D
  JOURNAL   Nat Commun 11 (1), 499 (2020)
   PUBMED   31980649
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2741)
  AUTHORS   Yang X, Sun L, Wang L, Yao B, Mo H and Yang W.
  TITLE     LncRNA SNHG7 accelerates the proliferation, migration and invasion
            of hepatocellular carcinoma cells via regulating miR-122-5p and RPL4
  JOURNAL   Biomed Pharmacother 118, 109386 (2019)
   PUBMED   31545291
  REMARK    GeneRIF: SNHG7 contributed to hepatocellular carcinoma progression
            by regulating miR-122-5p and RPL4.
REFERENCE   6  (bases 1 to 2741)
  AUTHORS   Twiss JL, Smith DS, Chang B and Shooter EM.
  TITLE     Translational control of ribosomal protein L4 mRNA is required for
            rapid neurite regeneration
  JOURNAL   Neurobiol Dis 7 (4), 416-428 (2000)
   PUBMED   10964612
REFERENCE   7  (bases 1 to 2741)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   8  (bases 1 to 2741)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 2741)
  AUTHORS   Chan YL, Olvera J and Wool IG.
  TITLE     The primary structures of rat ribosomal proteins L4 and L41
  JOURNAL   Biochem Biophys Res Commun 214 (3), 810-818 (1995)
   PUBMED   7575549
REFERENCE   10  (bases 1 to 2741)
  AUTHORS   Bagni C, Mariottini P, Annesi F and Amaldi F.
  TITLE     Human ribosomal protein L4: cloning and sequencing of the cDNA and
            primary structure of the protein
  JOURNAL   Biochim Biophys Acta 1216 (3), 475-478 (1993)
   PUBMED   8268230
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.266028.1,
            SRR1803611.24478.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145245 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000307961.11/ ENSP00000311430.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from CB149679.1, BC066925.1, CA417911.1 and AC116913.6.
            On Nov 23, 2018 this sequence version replaced NM_000968.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L4E family of ribosomal proteins. It is located in the
            cytoplasm. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2741
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.31"
     gene            1..2741
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="ribosomal protein L4"
                     /db_xref="GeneID:6124"
                     /db_xref="HGNC:HGNC:10353"
                     /db_xref="MIM:180479"
     CDS             66..1349
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="60S ribosomal protein L4; 60S ribosomal protein L1"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL4"
                     /protein_id="NP_000959.2"
                     /db_xref="CCDS:CCDS10218.1"
                     /db_xref="GeneID:6124"
                     /db_xref="HGNC:HGNC:10353"
                     /db_xref="MIM:180479"
                     /translation="MACARPLISVYSEKGESSGKNVTLPAVFKAPIRPDIVNFVHTNLR
                     KNNRQPYAVSELAGHQTSAESWGTGRAVARIPRVRGGGTHRSGQGAFGNMCRGGRMFAP
                     TKTWRRWHRRVNTTQKRYAICSALAASALPALVMSKGHRIEEVPELPLVVEDKVEGYKK
                     TKEAVLLLKKLKAWNDIKKVYASQRMRAGKGKMRNRRRIQRRGPCIIYNEDNGIIKAFR
                     NIPGITLLNVSKLNILKLAPGGHVGRFCIWTESAFRKLDELYGTWRKAASLKSNYNLPM
                     HKMINTDLSRILKSPEIQRALRAPRKKIHRRVLKKNPLKNLRIMLKLNPYAKTMRRNTI
                     LRQARNHKLRVDKAAAAAAALQAKSDEKAAVAGKKPVVGKKGKKAAVGVKKQKKPLVGK
                     KAAATKKPAPEKKPAEKKPTTEEKKPAA"
     misc_feature    69..71
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.8,
                     ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P36578.5); acetylation site"
     misc_feature    105..107
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P36578.5); acetylation site"
     misc_feature    354..356
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q9D8E6; propagated from
                     UniProtKB/Swiss-Prot (P36578.5); methylation site"
     misc_feature    381..383
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P36578.5); acetylation site"
     misc_feature    840..842
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9D8E6; propagated from
                     UniProtKB/Swiss-Prot (P36578.5); acetylation site"
     misc_feature    861..863
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P36578.5); phosphorylation site"
     misc_feature    933..935
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P50878; propagated from
                     UniProtKB/Swiss-Prot (P36578.5); phosphorylation site"
     misc_feature    948..950
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P36578.5);
                     phosphorylation site"
     misc_feature    1062..1064
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P36578.5); acetylation site"
     misc_feature    1122..1124
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9D8E6; propagated from
                     UniProtKB/Swiss-Prot (P36578.5); acetylation site"
     misc_feature    1155..1157
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q9D8E6; propagated from
                     UniProtKB/Swiss-Prot (P36578.5); acetylation site"
     misc_feature    1158..1160
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P36578.5); phosphorylation site"
     misc_feature    1170..1346
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="propagated from UniProtKB/Swiss-Prot (P36578.5);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1417..1422
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="hexamer: ATTATA"
     polyA_site      1441
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="major polyA site"
     polyA_site      1502
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
     regulatory      1774..1779
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="hexamer: AGTAAA"
     polyA_site      1795
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
     regulatory      2258..2263
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="hexamer: CATAAA"
     polyA_site      2293
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
     regulatory      2720..2725
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
                     /note="hexamer: ATTAAA"
     polyA_site      2741
                     /gene="RPL4"
                     /gene_synonym="L4; uL4"
ORIGIN
        1 aagcacttcc ttttcctgtg gcagcagccg ggctgagagg agcgtggctg tctcctctct
       61 ccgccatggc gtgtgctcgc ccactgatat cggtgtactc cgaaaagggg gagtcatctg
      121 gcaaaaatgt cactttgcct gctgtattca aggctcctat tcgaccagat attgtgaact
      181 ttgttcacac caacttgcgc aaaaacaaca gacagcccta tgctgtcagt gaattagcag
      241 gtcatcagac tagtgctgag tcttggggta ctggcagagc tgtggctcga attcccagag
      301 ttcgaggtgg tgggactcac cgctctggcc agggtgcttt tggaaacatg tgtcgtggag
      361 gccgaatgtt tgcaccaacc aaaacctggc gccgttggca tcgtagagtg aacacaaccc
      421 aaaaacgata cgccatctgt tctgccctgg ctgcctcagc cctaccagca ctggtcatgt
      481 ctaaaggtca tcgtattgag gaagttcctg aacttccttt ggtagttgaa gataaagttg
      541 aaggctacaa gaagaccaag gaagctgttt tgctccttaa gaaacttaaa gcctggaatg
      601 atatcaaaaa ggtctatgcc tctcagcgaa tgagagctgg caaaggcaaa atgagaaacc
      661 gtcgccgtat ccagcgcagg ggcccgtgca tcatctataa tgaggataat ggtatcatca
      721 aggccttcag aaacatccct ggaattactc tgcttaatgt aagcaagctg aacattttga
      781 agcttgctcc tggtgggcat gtgggacgtt tctgcatttg gactgaaagt gctttccgga
      841 agttagatga attgtacggc acttggcgta aagccgcttc cctcaagagt aactacaatc
      901 ttcccatgca caagatgatt aatacagatc ttagcagaat cttgaaaagc ccagagatcc
      961 aaagagccct tcgagcacca cgcaagaaga tccatcgcag agtcctaaag aagaacccac
     1021 tgaaaaactt gagaatcatg ttgaagctaa acccatatgc aaagaccatg cgccggaaca
     1081 ccattcttcg ccaggccagg aatcacaagc tccgggtgga taaggcagct gctgcagcag
     1141 cggcactaca agccaaatca gatgagaagg cggcggttgc aggcaagaag cctgtggtag
     1201 gtaagaaagg aaagaaggct gctgttggtg ttaagaagca gaagaagcct ctggtgggaa
     1261 aaaaggcagc agctaccaag aaaccagccc ctgaaaagaa gcctgcagag aagaaaccta
     1321 ctacagagga gaagaagcct gctgcataaa ctcttaaatt tgattattcc ataaaggtca
     1381 aatcattttg gacagcttct tttgaataaa gacctgatta tacaggcagt gagaaacatg
     1441 acttggtgtg ctctgtaaag cttggttaga atttttttaa agtgacattt tgttggccat
     1501 aatttagact gttacatttt atatagtgtg gtataaaatg gggcatggat ttatactaag
     1561 tccatggagt tcagtggaag gggaatgatt taaaaaaagt tgtggttttc taaataatgt
     1621 ggcttgaaaa ataggtgtaa caggacttgg tcagaaacgc agaggctgtt caagtttagc
     1681 tccccaccag atggaaaata ggttaaattc tgtaaagatt taactttaac cacaagaggg
     1741 cacaactgga gagcacaatt tttttggtac tgcagtaaaa ttgattacct cttgagaagt
     1801 gttcttttta accagctata acaatagagt tgagtatttt cacccatggt ttgaaaaagt
     1861 gccagaaggc cacactggcc cacatctgta atcccaacac tttgggaccc taaggtgggc
     1921 agagcacttg agccaatgag ttcaagacca gcctggtcaa catgatgaaa tctcgtctct
     1981 actgaaaata taaaaaatag ccagtcatgg tgcatgcctg taaccccagc tacttggagg
     2041 ctgaggcaag agaatcactt gaacctggga ggtggaggtt gcaatgagcc aagattgtac
     2101 cattgccctc cagcctgggc gtcagagcaa gactctctga aaagtaccag aagcattttt
     2161 caggactgcc tgtgtgtctt ggtgattatg ttaaccaact gtgttcaaaa gaagtaccca
     2221 tgaaatgcct ccagatataa gggtgttttt ttttacccat aaagctaaac tgcaaatatt
     2281 accctagaat taacctcttg tcctgtgtca aaagtcttgt tttgcatctg gattgttaaa
     2341 ctgtcagctt ctctctgaca gtctcgaact gtcaagacag tctcagttca cagccaaggt
     2401 gatctgttaa ccctccccat ttccagggcc aaatctcagt tcttaagcac gtcgtttctt
     2461 agcacggctt tattttcatg ctctttattt ctctattttg tgcagcctta cccctttaaa
     2521 gtccactgtg agtcctaccc tgcagggcct cttaacacag tagagttcat gtgctactga
     2581 tttggtgcct gccttcaaac acatgtgcaa gttttgtggg gttaaagata gccacttggt
     2641 ggcacaccac attggaagtg ctgttcaccc ggtcatttga aacggtgttt gaccacttgg
     2701 tgcgcaaatg gcctatcgga ttaaaggata gccaaaccca a
//
LOCUS       NM_000969               1028 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L5 (RPL5), transcript variant 1,
            mRNA.
ACCESSION   NM_000969
VERSION     NM_000969.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1028)
  AUTHORS   Hu X, Li F, Zhou Y, Gan H, Wang T, Li L, Long H, Li B and Pang P.
  TITLE     DDX24 promotes metastasis by regulating RPL5 in non-small cell lung
            cancer
  JOURNAL   Cancer Med 11 (23), 4513-4525 (2022)
   PUBMED   35864588
  REMARK    GeneRIF: DDX24 promotes metastasis by regulating RPL5 in non-small
            cell lung cancer.
REFERENCE   2  (bases 1 to 1028)
  AUTHORS   Zhang H, Liu J, Dang Q, Wang X, Chen J, Lin X, Yang N, Du J, Shi H,
            Liu Y and Han J.
  TITLE     Ribosomal protein RPL5 regulates colon cancer cell proliferation and
            migration through MAPK/ERK signaling pathway
  JOURNAL   BMC Mol Cell Biol 23 (1), 48 (2022)
   PUBMED   36384455
  REMARK    GeneRIF: Ribosomal protein RPL5 regulates colon cancer cell
            proliferation and migration through MAPK/ERK signaling pathway.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1028)
  AUTHORS   Ma X, Li Y and Zhao B.
  TITLE     Ribosomal protein L5 (RPL5)/ E2F transcription factor 1 (E2F1)
            signaling suppresses breast cancer progression via regulating
            endoplasmic reticulum stress and autophagy
  JOURNAL   Bioengineered 13 (4), 8076-8086 (2022)
   PUBMED   35293275
  REMARK    GeneRIF: Ribosomal protein L5 (RPL5)/ E2F transcription factor 1
            (E2F1) signaling suppresses breast cancer progression via regulating
            endoplasmic reticulum stress and autophagy.
REFERENCE   4  (bases 1 to 1028)
  AUTHORS   Matsumori H, Watanabe K, Tachiwana H, Fujita T, Ito Y, Tokunaga M,
            Sakata-Sogawa K, Osakada H, Haraguchi T, Awazu A, Ochiai H, Sakata
            Y, Ochiai K, Toki T, Ito E, Goldberg IG, Tokunaga K, Nakao M and
            Saitoh N.
  TITLE     Ribosomal protein L5 facilitates rDNA-bundled condensate and
            nucleolar assembly
  JOURNAL   Life Sci Alliance 5 (7), e202101045 (2022)
   PUBMED   35321919
  REMARK    GeneRIF: Ribosomal protein L5 facilitates rDNA-bundled condensate
            and nucleolar assembly. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1028)
  AUTHORS   Fukui Y, Hayano S, Kawanabe N, Wang Z, Shimada A, Saito MK, Asaka I
            and Kamioka H.
  TITLE     Investigation of the molecular causes underlying physical
            abnormalities in Diamond-Blackfan anemia patients with RPL5
            haploinsufficiency
  JOURNAL   Pathol Int 71 (12), 803-813 (2021)
   PUBMED   34587661
  REMARK    GeneRIF: Investigation of the molecular causes underlying physical
            abnormalities in Diamond-Blackfan anemia patients with RPL5
            haploinsufficiency.
REFERENCE   6  (bases 1 to 1028)
  AUTHORS   Hirano K, Ito M and Hartshorne DJ.
  TITLE     Interaction of the ribosomal protein, L5, with protein phosphatase
            type 1
  JOURNAL   J Biol Chem 270 (34), 19786-19790 (1995)
   PUBMED   7649987
REFERENCE   7  (bases 1 to 1028)
  AUTHORS   Frigerio JM, Dagorn JC and Iovanna JL.
  TITLE     Cloning, sequencing and expression of the L5, L21, L27a, L28, S5,
            S9, S10 and S29 human ribosomal protein mRNAs
  JOURNAL   Biochim Biophys Acta 1262 (1), 64-68 (1995)
   PUBMED   7772601
REFERENCE   8  (bases 1 to 1028)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301769
REFERENCE   9  (bases 1 to 1028)
  AUTHORS   Pogue-Geile K, Geiser JR, Shu M, Miller C, Wool IG, Meisler AI and
            Pipas JM.
  TITLE     Ribosomal protein genes are overexpressed in colorectal cancer:
            isolation of a cDNA clone encoding the human S3 ribosomal protein
  JOURNAL   Mol Cell Biol 11 (8), 3842-3849 (1991)
   PUBMED   1712897
REFERENCE   10  (bases 1 to 1028)
  AUTHORS   Steitz JA, Berg C, Hendrick JP, La Branche-Chabot H, Metspalu A,
            Rinke J and Yario T.
  TITLE     A 5S rRNA/L5 complex is a precursor to ribosome assembly in
            mammalian cells
  JOURNAL   J Cell Biol 106 (3), 545-556 (1988)
   PUBMED   3279045
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1139019.1,
            SRR3476690.127437.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370321.8/ ENSP00000359345.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BP247508.1, AF113210.1 and N67963.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 9, 2018 this sequence version replaced NM_000969.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of four RNA species and approximately
            80 structurally distinct proteins. This gene encodes a member of
            the L18P family of ribosomal proteins and component of the 60S
            subunit. The encoded protein binds 5S rRNA to form a stable complex
            called the 5S ribonucleoprotein particle (RNP), which is necessary
            for the transport of nonribosome-associated cytoplasmic 5S rRNA to
            the nucleolus for assembly into ribosomes. The encoded protein may
            also function to inhibit tumorigenesis through the activation of
            downstream tumor suppressors and the downregulation of oncoprotein
            expression. Mutations in this gene have been identified in patients
            with Diamond-Blackfan Anemia (DBA). This gene is co-transcribed
            with the small nucleolar RNA gene U21, which is located in its
            fifth intron. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            throughout the genome. [provided by RefSeq, Mar 2017].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the supported protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1028
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.1"
     gene            1..1028
                     /gene="RPL5"
                     /gene_synonym="L5; MSTP030; PPP1R135; uL18"
                     /note="ribosomal protein L5"
                     /db_xref="GeneID:6125"
                     /db_xref="HGNC:HGNC:10360"
                     /db_xref="MIM:603634"
     misc_feature    16..18
                     /gene="RPL5"
                     /gene_synonym="L5; MSTP030; PPP1R135; uL18"
                     /note="upstream in-frame stop codon"
     CDS             76..969
                     /gene="RPL5"
                     /gene_synonym="L5; MSTP030; PPP1R135; uL18"
                     /EC_number="3.6.5.3"
                     /note="60S ribosomal protein L5; protein phosphatase 1,
                     regulatory subunit 135"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL18"
                     /protein_id="NP_000960.2"
                     /db_xref="CCDS:CCDS741.1"
                     /db_xref="GeneID:6125"
                     /db_xref="HGNC:HGNC:10360"
                     /db_xref="MIM:603634"
                     /translation="MGFVKVVKNKAYFKRYQVKFRRRREGKTDYYARKRLVIQDKNKYN
                     TPKYRMIVRVTNRDIICQIAYARIEGDMIVCAAYAHELPKYGVKVGLTNYAAAYCTGLL
                     LARRLLNRFGMDKIYEGQVEVTGDEYNVESIDGQPGAFTCYLDAGLARTTTGNKVFGAL
                     KGAVDGGLSIPHSTKRFPGYDSESKEFNAEVHRKHIMGQNVADYMRYLMEEDEDAYKKQ
                     FSQYIKNSVTPDMMEEMYKKAHAAIRENPVYEKKPKKEVKKKRWNRPKMSLAQKKDRVA
                     QKKASFLRAQERAAES"
     misc_feature    79..81
                     /gene="RPL5"
                     /gene_synonym="L5; MSTP030; PPP1R135; uL18"
                     /note="N-acetylglycine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P46777.3); acetylation site"
     misc_feature    88..90
                     /gene="RPL5"
                     /gene_synonym="L5; MSTP030; PPP1R135; uL18"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P46777.3); acetylation site"
     misc_feature    217..219
                     /gene="RPL5"
                     /gene_synonym="L5; MSTP030; PPP1R135; uL18"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P46777.3); acetylation site"
     misc_feature    628..630
                     /gene="RPL5"
                     /gene_synonym="L5; MSTP030; PPP1R135; uL18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46777.3); phosphorylation site"
     misc_feature    733..735
                     /gene="RPL5"
                     /gene_synonym="L5; MSTP030; PPP1R135; uL18"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P47962; propagated from
                     UniProtKB/Swiss-Prot (P46777.3); acetylation site"
     misc_feature    769..771
                     /gene="RPL5"
                     /gene_synonym="L5; MSTP030; PPP1R135; uL18"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46777.3); phosphorylation site"
     misc_feature    832..966
                     /gene="RPL5"
                     /gene_synonym="L5; MSTP030; PPP1R135; uL18"
                     /note="propagated from UniProtKB/Swiss-Prot (P46777.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    889..891
                     /gene="RPL5"
                     /gene_synonym="L5; MSTP030; PPP1R135; uL18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P46777.3); phosphorylation site"
     regulatory      1006..1011
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL5"
                     /gene_synonym="L5; MSTP030; PPP1R135; uL18"
                     /note="hexamer: AATAAA"
     polyA_site      1025
                     /gene="RPL5"
                     /gene_synonym="L5; MSTP030; PPP1R135; uL18"
                     /note="major polyA site"
ORIGIN
        1 ccttttccca ccccctagcg ccgctgggcc tgcaggtctc tgtcgagcag cggacgccgg
       61 tctctgttcc gcaggatggg gtttgttaaa gttgttaaga ataaggccta ctttaagaga
      121 taccaagtga aatttagaag acgacgagag ggtaaaactg attattatgc tcggaaacgc
      181 ttggtgatac aagataaaaa taaatacaac acacccaaat acaggatgat agttcgtgtg
      241 acaaacagag atatcatttg tcagattgct tatgcccgta tagaggggga tatgatagtc
      301 tgcgcagcgt atgcacacga actgccaaaa tatggtgtga aggttggcct gacaaattat
      361 gctgcagcat attgtactgg cctgctgctg gcccgcaggc ttctcaatag gtttggcatg
      421 gacaagatct atgaaggcca agtggaggtg actggtgatg aatacaatgt ggaaagcatt
      481 gatggtcagc caggtgcctt cacctgctat ttggatgcag gccttgccag aactaccact
      541 ggcaataaag tttttggtgc cctgaaggga gctgtggatg gaggcttgtc tatccctcac
      601 agtaccaaac gattccctgg ttatgattct gaaagcaagg aatttaatgc agaagtacat
      661 cggaagcaca tcatgggcca gaatgttgca gattacatgc gctacttaat ggaagaagat
      721 gaagatgctt acaagaaaca gttctctcaa tacataaaga acagcgtaac tccagacatg
      781 atggaggaga tgtataagaa agctcatgct gctatacgag agaatccagt ctatgaaaag
      841 aagcccaaga aagaagttaa aaagaagagg tggaaccgtc ccaaaatgtc ccttgctcag
      901 aagaaggatc gggtagctca aaagaaggca agcttcctca gagctcagga gcgggctgct
      961 gagagctaaa cccagcaatt ttctatgatt ttttcagata tagataataa acttatgaac
     1021 agcaacta
//
LOCUS       NM_000970                921 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L6 (RPL6), transcript variant 2,
            mRNA.
ACCESSION   NM_000970
VERSION     NM_000970.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 921)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 921)
  AUTHORS   Kennedy SA, Jarboui MA, Srihari S, Raso C, Bryan K, Dernayka L,
            Charitou T, Bernal-Llinares M, Herrera-Montavez C, Krstic A,
            Matallanas D, Kotlyar M, Jurisica I, Curak J, Wong V, Stagljar I,
            LeBihan T, Imrie L, Pillai P, Lynn MA, Fasterius E, Al-Khalili
            Szigyarto C, Breen J, Kiel C, Serrano L, Rauch N, Rukhlenko O,
            Kholodenko BN, Iglesias-Martinez LF, Ryan CJ, Pilkington R,
            Cammareri P, Sansom O, Shave S, Auer M, Horn N, Klose F, Ueffing M,
            Boldt K, Lynn DJ and Kolch W.
  TITLE     Extensive rewiring of the EGFR network in colorectal cancer cells
            expressing transforming levels of KRASG13D
  JOURNAL   Nat Commun 11 (1), 499 (2020)
   PUBMED   31980649
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 921)
  AUTHORS   Wei J, Kishton RJ, Angel M, Conn CS, Dalla-Venezia N, Marcel V,
            Vincent A, Catez F, Ferre S, Ayadi L, Marchand V, Dersh D, Gibbs JS,
            Ivanov IP, Fridlyand N, Coute Y, Diaz JJ, Qian SB, Staudt LM,
            Restifo NP and Yewdell JW.
  TITLE     Ribosomal Proteins Regulate MHC Class I Peptide Generation for
            Immunosurveillance
  JOURNAL   Mol Cell 73 (6), 1162-1173 (2019)
   PUBMED   30712990
  REMARK    GeneRIF: 60S ribosomal proteins L6 (RPL6) and RPL28, which are
            adjacent on the ribosome, play opposite roles in generating an
            influenza A virus-encoded peptide. Depleting RPL6 decreases
            ubiquitin-dependent peptide presentation, whereas depleting RPL28
            increases ubiquitin-dependent and -independent peptide presentation.
REFERENCE   4  (bases 1 to 921)
  AUTHORS   Behrmann E, Loerke J, Budkevich TV, Yamamoto K, Schmidt A, Penczek
            PA, Vos MR, Burger J, Mielke T, Scheerer P and Spahn CM.
  TITLE     Structural snapshots of actively translating human ribosomes
  JOURNAL   Cell 161 (4), 845-857 (2015)
   PUBMED   25957688
REFERENCE   5  (bases 1 to 921)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   6  (bases 1 to 921)
  AUTHORS   Ohta K, Endo T, Gunji K and Onaya T.
  TITLE     Isolation of a cDNA whose expression is markedly increased in
            malignantly transformed FRTL cells and neoplastic human thyroid
            tissues
  JOURNAL   J Mol Endocrinol 12 (1), 85-92 (1994)
   PUBMED   8185817
REFERENCE   7  (bases 1 to 921)
  AUTHORS   Zaman GJ.
  TITLE     Sequence of a cDNA encoding human ribosomal protein L26 and of a
            cDNA probably encoding human ribosomal protein L6
  JOURNAL   Nucleic Acids Res 21 (7), 1673 (1993)
   PUBMED   8479925
REFERENCE   8  (bases 1 to 921)
  AUTHORS   Morita T, Sato T, Nyunoya H, Tsujimoto A, Takahara J, Irino S and
            Shimotohno K.
  TITLE     Isolation of a cDNA clone encoding DNA-binding protein (TAXREB107)
            that binds specifically to domain C of the tax-responsive enhancer
            element in the long terminal repeat of human T-cell leukemia virus
            type I
  JOURNAL   AIDS Res Hum Retroviruses 9 (2), 115-121 (1993)
   PUBMED   8457378
REFERENCE   9  (bases 1 to 921)
  AUTHORS   Nika,H. and Hultin,T.
  TITLE     Location of the sulfhydryl groups involved in disulfide interaction
            between the neighboring proteins L6 and L29 in mammalian ribosomes.
            S-cleavage of the cyanylated proteins in polyacrylamide gels after
            separation by dodecylsulfate gel electrophoresis
  JOURNAL   Eur J Biochem 142 (3), 521-526 (1984)
   PUBMED   6468376
REFERENCE   10  (bases 1 to 921)
  AUTHORS   Todokoro,K., Ulbrich,N., Chan,Y.L. and Wool,I.G.
  TITLE     Characterization of the binding of rat liver ribosomal proteins L6,
            L8, L19, S9, and S13 to 5.8 S ribosomal ribonucleic acid
  JOURNAL   J Biol Chem 256 (14), 7207-7212 (1981)
   PUBMED   7251593
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC020679.1, AK311863.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2155974
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000202773.14/ ENSP00000202773.9
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BC004138.2 and AI583261.1.
            On Aug 13, 2020 this sequence version replaced NM_000970.5.
            Summary: This gene encodes a protein component of the 60S ribosomal
            subunit. This protein can bind specifically to domain C of the
            tax-responsive enhancer element of human T-cell leukemia virus type
            1, and may participate in tax-mediated transactivation of
            transcription. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            throughout the genome. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Feb 2016].
            Transcript Variant: This variant (2) is the predominant variant.
            Variants 1, 2, 3, 4, 5, 6, and 7 encode the same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..921
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.13"
     gene            1..921
                     /gene="RPL6"
                     /gene_synonym="eL6; L6; SHUJUN-2; TAXREB107; TXREB1"
                     /note="ribosomal protein L6"
                     /db_xref="GeneID:6128"
                     /db_xref="HGNC:HGNC:10362"
                     /db_xref="MIM:603703"
     CDS             20..886
                     /gene="RPL6"
                     /gene_synonym="eL6; L6; SHUJUN-2; TAXREB107; TXREB1"
                     /note="isoform 1 is encoded by transcript variant 2; 60S
                     ribosomal protein L6; tax-responsive enhancer
                     element-binding protein 107; DNA-binding protein TAXREB107;
                     neoplasm-related protein C140; large ribosomal subunit
                     protein eL6"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL6 isoform 1"
                     /protein_id="NP_000961.2"
                     /db_xref="CCDS:CCDS9162.1"
                     /db_xref="GeneID:6128"
                     /db_xref="HGNC:HGNC:10362"
                     /db_xref="MIM:603703"
                     /translation="MAGEKVEKPDTKEKKPEAKKVDAGGKVKKGNLKAKKPKKGKPHCS
                     RNPVLVRGIGRYSRSAMYSRKAMYKRKYSAAKSKVEKKKKEKVLATVTKPVGGDKNGGT
                     RVVKLRKMPRYYPTEDVPRKLLSHGKKPFSQHVRKLRASITPGTILIILTGRHRGKRVV
                     FLKQLASGLLLVTGPLVLNRVPLRRTHQKFVIATSTKIDISNVKIPKHLTDAYFKKKKL
                     RKPRHQEGEIFDTEKEKYEITEQRKIDQKAVDSQILPKIKAIPQLQGYLRSVFALTNGI
                     YPHKLVF"
     misc_feature    20..163
                     /gene="RPL6"
                     /gene_synonym="eL6; L6; SHUJUN-2; TAXREB107; TXREB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q02878.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    398..400
                     /gene="RPL6"
                     /gene_synonym="eL6; L6; SHUJUN-2; TAXREB107; TXREB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17924679; propagated from
                     UniProtKB/Swiss-Prot (Q02878.3); phosphorylation site"
     misc_feature    734..736
                     /gene="RPL6"
                     /gene_synonym="eL6; L6; SHUJUN-2; TAXREB107; TXREB1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q02878.3); acetylation site"
     regulatory      903..908
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL6"
                     /gene_synonym="eL6; L6; SHUJUN-2; TAXREB107; TXREB1"
                     /note="hexamer: ATTAAA"
     polyA_site      921
                     /gene="RPL6"
                     /gene_synonym="eL6; L6; SHUJUN-2; TAXREB107; TXREB1"
                     /note="major polyA site"
ORIGIN
        1 ctctttccca tcttgcaaga tggcgggtga aaaagttgag aagccagata ctaaagagaa
       61 gaaacccgaa gccaagaagg ttgatgctgg tggcaaggtg aaaaagggta acctcaaagc
      121 taaaaagccc aagaagggga agccccattg cagccgcaac cctgtccttg tcagaggaat
      181 tggcaggtat tcccgatctg ccatgtattc cagaaaggcc atgtacaaga ggaagtactc
      241 agccgctaaa tccaaggttg aaaagaaaaa gaaggagaag gttctcgcaa ctgttacaaa
      301 accagttggt ggtgacaaga acggcggtac ccgggtggtt aaacttcgca aaatgcctag
      361 atattatcct actgaagatg tgcctcgaaa gctgttgagc cacggcaaaa aacccttcag
      421 tcagcacgtg agaaaactgc gagccagcat tacccccggg accattctga tcatcctcac
      481 tggacgccac aggggcaaga gggtggtttt cctgaagcag ctggctagtg gcttattact
      541 tgtgactgga cctctggtcc tcaatcgagt tcctctacga agaacacacc agaaatttgt
      601 cattgccact tcaaccaaaa tcgatatcag caatgtaaaa atcccaaaac atcttactga
      661 tgcttacttc aagaagaaga agctgcggaa gcccagacac caggaaggtg agatcttcga
      721 cacagaaaaa gagaaatatg agattacgga gcagcgcaag attgatcaga aagctgtgga
      781 ctcacaaatt ttaccaaaaa tcaaagctat tcctcagctc cagggctacc tgcgatctgt
      841 gtttgctctg acgaatggaa tttatcctca caaattggtg ttctaaatgt cttaagaacc
      901 taattaaata gctgactaca t
//
LOCUS       NM_000971               1233 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L7 (RPL7), transcript variant 1,
            mRNA.
ACCESSION   NM_000971
VERSION     NM_000971.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1233)
  AUTHORS   Karnib H, Nadeem MF, Humbert N, Sharma KK, Grytsyk N, Tisne C,
            Boutant E, Lequeu T, Real E, Boudier C, de Rocquigny H and Mely Y.
  TITLE     The nucleic acid chaperone activity of the HIV-1 Gag polyprotein is
            boosted by its cellular partner RPL7: a kinetic study
  JOURNAL   Nucleic Acids Res 48 (16), 9218-9234 (2020)
   PUBMED   32797159
  REMARK    GeneRIF: The nucleic acid chaperone activity of the HIV-1 Gag
            polyprotein is boosted by its cellular partner RPL7: a kinetic
            study.
REFERENCE   2  (bases 1 to 1233)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1233)
  AUTHORS   Mekdad HE, Boutant E, Karnib H, Biedma ME, Sharma KK, Malytska I,
            Laumond G, Roy M, Real E, Paillart JC, Moog C, Darlix JL, Mely Y and
            de Rocquigny H.
  TITLE     Characterization of the interaction between the HIV-1 Gag structural
            polyprotein and the cellular ribosomal protein L7 and its
            implication in viral nucleic acid remodeling
  JOURNAL   Retrovirology 13 (1), 54 (2016)
   PUBMED   27515235
  REMARK    GeneRIF: HIV-1 Gag NC domain interacts with the ribosomal protein
            RPL7 endowed with nucleic acid chaperone activity, favoring the
            notion that RPL7 could be a Gag helper chaperoning factor possibly
            contributing to the start of Gag assembly Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 1233)
  AUTHORS   Li Y, Jain N, Limpanawat S, To J, Quistgaard EM, Nordlund P,
            Thanabalu T and Torres J.
  TITLE     Interaction between human BAP31 and respiratory syncytial virus
            small hydrophobic (SH) protein
  JOURNAL   Virology 482, 105-110 (2015)
   PUBMED   25854864
REFERENCE   5  (bases 1 to 1233)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   6  (bases 1 to 1233)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   7  (bases 1 to 1233)
  AUTHORS   Neumann F, Hemmerich P, von Mikecz A, Peter HH and Krawinkel U.
  TITLE     Human ribosomal protein L7 inhibits cell-free translation in
            reticulocyte lysates and affects the expression of nuclear proteins
            upon stable transfection into Jurkat T-lymphoma cells
  JOURNAL   Nucleic Acids Res 23 (2), 195-202 (1995)
   PUBMED   7862521
REFERENCE   8  (bases 1 to 1233)
  AUTHORS   von Mikecz A, Hemmerich P, Peter HH and Krawinkel U.
  TITLE     Characterization of eukaryotic protein L7 as a novel autoantigen
            which frequently elicits an immune response in patients suffering
            from systemic autoimmune disease
  JOURNAL   Immunobiology 192 (1-2), 137-154 (1994)
   PUBMED   7750987
REFERENCE   9  (bases 1 to 1233)
  AUTHORS   Seshadri T, Uzman JA, Oshima J and Campisi J.
  TITLE     Identification of a transcript that is down-regulated in senescent
            human fibroblasts. Cloning, sequence analysis, and regulation of the
            human L7 ribosomal protein gene
  JOURNAL   J Biol Chem 268 (25), 18474-18480 (1993)
   PUBMED   8360149
REFERENCE   10  (bases 1 to 1233)
  AUTHORS   Hemmerich P, von Mikecz A, Neumann F, Sozeri O, Wolff-Vorbeck G,
            Zoebelein R and Krawinkel U.
  TITLE     Structural and functional properties of ribosomal protein L7 from
            humans and rodents
  JOURNAL   Nucleic Acids Res 21 (2), 223-231 (1993)
   PUBMED   8441630
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.111484.1,
            SRR1660803.39838.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2155371,
            SAMEA2155751 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000352983.7/ ENSP00000339795.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from X52967.1, BC009599.1 and AC111149.4.
            On Nov 23, 2018 this sequence version replaced NM_000971.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L30P family of ribosomal proteins. It contains an N-terminal
            basic region-leucine zipper (BZIP)-like domain and the RNP
            consensus submotif RNP2. In vitro the BZIP-like domain mediates
            homodimerization and stable binding to DNA and RNA, with a
            preference for 28S rRNA and mRNA. The protein can inhibit cell-free
            translation of mRNAs, suggesting that it plays a regulatory role in
            the translation apparatus. It is located in the cytoplasm. The
            protein has been shown to be an autoantigen in patients with
            systemic autoimmune diseases, such as systemic lupus erythematosus.
            As is typical for genes encoding ribosomal proteins, there are
            multiple processed pseudogenes of this gene dispersed through the
            genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1233
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.11"
     gene            1..1233
                     /gene="RPL7"
                     /gene_synonym="humL7-1; L7; uL30"
                     /note="ribosomal protein L7"
                     /db_xref="GeneID:6129"
                     /db_xref="HGNC:HGNC:10363"
                     /db_xref="MIM:604166"
     misc_feature    2
                     /gene="RPL7"
                     /gene_synonym="humL7-1; L7; uL30"
                     /note="predominant transcription initiation site"
     CDS             22..768
                     /gene="RPL7"
                     /gene_synonym="humL7-1; L7; uL30"
                     /note="isoform 1 is encoded by transcript variant 1; 60S
                     ribosomal protein L7; large ribosomal subunit protein uL30"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL30 isoform 1"
                     /protein_id="NP_000962.2"
                     /db_xref="CCDS:CCDS6212.1"
                     /db_xref="GeneID:6129"
                     /db_xref="HGNC:HGNC:10363"
                     /db_xref="MIM:604166"
                     /translation="MEGVEEKKKEVPAVPETLKKKRRNFAELKIKRLRKKFAQKMLRKA
                     RRKLIYEKAKHYHKEYRQMYRTEIRMARMARKAGNFYVPAEPKLAFVIRIRGINGVSPK
                     VRKVLQLLRLRQIFNGTFVKLNKASINMLRIVEPYIAWGYPNLKSVNELIYKRGYGKIN
                     KKRIALTDNALIARSLGKYGIICMEDLIHEIYTVGKRFKEANNFLWPFKLSSPRGGMKK
                     KTTHFVEGGDAGNREDQINRLIRRMN"
     misc_feature    22..24
                     /gene="RPL7"
                     /gene_synonym="humL7-1; L7; uL30"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000269|PubMed:12962325, ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (P18124.1);
                     acetylation site"
     misc_feature    40..183
                     /gene="RPL7"
                     /gene_synonym="humL7-1; L7; uL30"
                     /note="propagated from UniProtKB/Swiss-Prot (P18124.1);
                     Region: 4 X 12 AA tandem repeats"
     misc_feature    70..72
                     /gene="RPL7"
                     /gene_synonym="humL7-1; L7; uL30"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18124.1); phosphorylation site"
     misc_feature    391..393
                     /gene="RPL7"
                     /gene_synonym="humL7-1; L7; uL30"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P18124.1); acetylation site"
     misc_feature    436..438
                     /gene="RPL7"
                     /gene_synonym="humL7-1; L7; uL30"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455; propagated from
                     UniProtKB/Swiss-Prot (P18124.1); phosphorylation site"
     regulatory      806..811
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL7"
                     /gene_synonym="humL7-1; L7; uL30"
                     /note="hexamer: AATAAA"
     regulatory      833..838
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL7"
                     /gene_synonym="humL7-1; L7; uL30"
                     /note="hexamer: AATATA"
     polyA_site      838
                     /gene="RPL7"
                     /gene_synonym="humL7-1; L7; uL30"
                     /note="major polyA site"
     polyA_site      853
                     /gene="RPL7"
                     /gene_synonym="humL7-1; L7; uL30"
                     /note="major polyA site"
     regulatory      1191..1196
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL7"
                     /gene_synonym="humL7-1; L7; uL30"
                     /note="hexamer: TATAAA"
     polyA_site      1233
                     /gene="RPL7"
                     /gene_synonym="humL7-1; L7; uL30"
ORIGIN
        1 cctctttttc cggctggaac catggagggt gtagaagaga agaagaagga ggttcctgct
       61 gtgccagaaa cccttaagaa aaagcgaagg aatttcgcag agctgaagat caagcgcctg
      121 agaaagaagt ttgcccaaaa gatgcttcga aaggcaagga ggaagcttat ctatgaaaaa
      181 gcaaagcact atcacaagga atataggcag atgtacagaa ctgaaattcg aatggcgagg
      241 atggcaagaa aagctggcaa cttctatgta cctgcagaac ccaaattggc gtttgtcatc
      301 agaatcagag gtatcaatgg agtgagccca aaggttcgaa aggtgttgca gcttcttcgc
      361 cttcgtcaaa tcttcaatgg aacctttgtg aagctcaaca aggcttcgat taacatgctg
      421 aggattgtag agccatatat tgcatggggg taccccaatc tgaagtcagt aaatgaacta
      481 atctacaagc gtggttatgg caaaatcaat aagaagcgaa ttgctttgac agataacgct
      541 ttgattgctc gatctcttgg taaatacggc atcatctgca tggaggattt gattcatgag
      601 atctatactg ttggaaaacg cttcaaagag gcaaataact tcctgtggcc cttcaaattg
      661 tcttctccac gaggtggaat gaagaaaaag accacccatt ttgtagaagg tggagatgct
      721 ggcaacaggg aggaccagat caacaggctt attagaagaa tgaactaagg tgtctaccat
      781 gattattttt ctaagctggt tggttaataa acagtacctg ctctcaaatt gaaatatatt
      841 gttgtatttg tgatttgttg ttgttgttgt tagcctgcct ctgtcttccc ttaactactg
      901 tggcaagtgt ggtgtgtgat aaaattaagc caaatcaaca gcccatttcg tgcaaaatca
      961 gggtcgagtc tgtgtgaaag acatctcttg ggtttttaaa aggcttttct atacaaaaga
     1021 ttttaatttt ttgtttttta actgtgctga gtgattcgaa atgggtttat tctaagaaag
     1081 cctgtttcac aagcatttgt acatgatttg tcggtaaggt aatccaactt tggtttatgg
     1141 aaaaaattga atttagttgc taaaatttat ttctcgggcc ttcgcttgtt tataaactgc
     1201 catgtaaatg tgttgttttc cttttgcatt cca
//
LOCUS       NM_000972                887 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L7a (RPL7A), mRNA.
ACCESSION   NM_000972
VERSION     NM_000972.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 887)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 887)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   3  (bases 1 to 887)
  AUTHORS   Guo Z, Neilson LJ, Zhong H, Murray PS, Zanivan S and Zaidel-Bar R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 887)
  AUTHORS   Kazyken D, Kaz Y, Kiyan V, Zhylkibayev AA, Chen CH, Agarwal NK and
            Sarbassov dos D.
  TITLE     The nuclear import of ribosomal proteins is regulated by mTOR
  JOURNAL   Oncotarget 5 (20), 9577-9593 (2014)
   PUBMED   25294810
REFERENCE   5  (bases 1 to 887)
  AUTHORS   Jefferson M, Donaszi-Ivanov A, Pollen S, Dalmay T, Saalbach G and
            Powell PP.
  TITLE     Host factors that interact with the pestivirus N-terminal protease,
            Npro, are components of the ribonucleoprotein complex
  JOURNAL   J Virol 88 (18), 10340-10353 (2014)
   PUBMED   24965446
REFERENCE   6  (bases 1 to 887)
  AUTHORS   Burris TP, Nawaz Z, Tsai MJ and O'Malley BW.
  TITLE     A nuclear hormone receptor-associated protein that inhibits
            transactivation by the thyroid hormone and retinoic acid receptors
  JOURNAL   Proc Natl Acad Sci U S A 92 (21), 9525-9529 (1995)
   PUBMED   7568167
REFERENCE   7  (bases 1 to 887)
  AUTHORS   Colombo P, Yon J and Fried M.
  TITLE     The organization and expression of the human L7a ribosomal protein
            gene
  JOURNAL   Biochim Biophys Acta 1129 (1), 93-95 (1991)
   PUBMED   1756182
REFERENCE   8  (bases 1 to 887)
  AUTHORS   Ben-Ishai R, Scharf R, Sharon R and Kapten I.
  TITLE     A human cellular sequence implicated in trk oncogene activation is
            DNA damage inducible
  JOURNAL   Proc Natl Acad Sci U S A 87 (16), 6039-6043 (1990)
   PUBMED   1696715
REFERENCE   9  (bases 1 to 887)
  AUTHORS   Ziemiecki A, Muller RG, Fu XC, Hynes NE and Kozma S.
  TITLE     Oncogenic activation of the human trk proto-oncogene by
            recombination with the ribosomal large subunit protein L7a
  JOURNAL   EMBO J 9 (1), 191-196 (1990)
   PUBMED   2403926
REFERENCE   10  (bases 1 to 887)
  AUTHORS   Kozma SC, Redmond SM, Fu XC, Saurer SM, Groner B and Hynes NE.
  TITLE     Activation of the receptor kinase domain of the trk oncogene by
            recombination with two different cellular sequences
  JOURNAL   EMBO J 7 (1), 147-154 (1988)
   PUBMED   2966065
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.152640.1,
            SRR5189655.22992.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000323345.11/ ENSP00000361076.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AL772161.10 and AL593848.15.
            On Nov 26, 2018 this sequence version replaced NM_000972.2.
            Summary: Cytoplasmic ribosomes, organelles that catalyze protein
            synthesis, consist of a small 40S subunit and a large 60S subunit.
            Together these subunits are composed of 4 RNA species and
            approximately 80 structurally distinct proteins. This gene encodes
            a ribosomal protein that is a component of the 60S subunit. The
            protein belongs to the L7AE family of ribosomal proteins. It can
            interact with a subclass of nuclear hormone receptors, including
            thyroid hormone receptor, and inhibit their ability to
            transactivate by preventing their binding to their DNA response
            elements. This gene is included in the surfeit gene cluster, a
            group of very tightly linked genes that do not share sequence
            similarity. It is co-transcribed with the U24, U36a, U36b, and U36c
            small nucleolar RNA genes, which are located in its second, fifth,
            fourth, and sixth introns, respectively. This gene rearranges with
            the trk proto-oncogene to form the chimeric oncogene trk-2h, which
            encodes an oncoprotein consisting of the N terminus of ribosomal
            protein L7a fused to the receptor tyrosine kinase domain of trk. As
            is typical for genes encoding ribosomal proteins, there are
            multiple processed pseudogenes of this gene dispersed through the
            genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..887
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.2"
     gene            1..887
                     /gene="RPL7A"
                     /gene_synonym="eL8; L7A; SURF3; TRUP"
                     /note="ribosomal protein L7a"
                     /db_xref="GeneID:6130"
                     /db_xref="HGNC:HGNC:10364"
                     /db_xref="MIM:185640"
     misc_feature    1
                     /gene="RPL7A"
                     /gene_synonym="eL8; L7A; SURF3; TRUP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="alternative transcription initiation site"
     misc_feature    5
                     /gene="RPL7A"
                     /gene_synonym="eL8; L7A; SURF3; TRUP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="major transcription initiation site"
     misc_feature    7
                     /gene="RPL7A"
                     /gene_synonym="eL8; L7A; SURF3; TRUP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="alternative transcription initiation site"
     CDS             27..827
                     /gene="RPL7A"
                     /gene_synonym="eL8; L7A; SURF3; TRUP"
                     /note="surfeit 3; surfeit locus protein 3; PLA-X
                     polypeptide; 60S ribosomal protein L7a; thyroid hormone
                     receptor uncoupling protein"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL8"
                     /protein_id="NP_000963.1"
                     /db_xref="CCDS:CCDS6965.1"
                     /db_xref="GeneID:6130"
                     /db_xref="HGNC:HGNC:10364"
                     /db_xref="MIM:185640"
                     /translation="MPKGKKAKGKKVAPAPAVVKKQEAKKVVNPLFEKRPKNFGIGQDI
                     QPKRDLTRFVKWPRYIRLQRQRAILYKRLKVPPAINQFTQALDRQTATQLLKLAHKYRP
                     ETKQEKKQRLLARAEKKAAGKGDVPTKRPPVLRAGVNTVTTLVENKKAQLVVIAHDVDP
                     IELVVFLPALCRKMGVPYCIIKGKARLGRLVHRKTCTTVAFTQVNSEDKGALAKLVEAI
                     RTNYNDRYDEIRRHWGGNVLGPKSVARIAKLEKAKAKELATKLG"
     misc_feature    126..128
                     /gene="RPL7A"
                     /gene_synonym="eL8; L7A; SURF3; TRUP"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62424.2); acetylation site"
     misc_feature    315..317
                     /gene="RPL7A"
                     /gene_synonym="eL8; L7A; SURF3; TRUP"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62424.2); acetylation site"
     misc_feature    675..677
                     /gene="RPL7A"
                     /gene_synonym="eL8; L7A; SURF3; TRUP"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62424.2); acetylation site"
     regulatory      870..875
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL7A"
                     /gene_synonym="eL8; L7A; SURF3; TRUP"
                     /note="hexamer: AATACA"
     polyA_site      887
                     /gene="RPL7A"
                     /gene_synonym="eL8; L7A; SURF3; TRUP"
                     /note="major polyA site"
ORIGIN
        1 ctttctctct cctcccgccg cccaagatgc cgaaaggaaa gaaggccaag ggaaagaagg
       61 tggctccggc cccagctgtc gtgaagaagc aggaggctaa gaaagtggtg aatcccctgt
      121 ttgagaaaag gcctaagaat tttggcattg gacaggacat ccagcccaaa agagacctca
      181 cccgctttgt gaaatggccc cgctatatca ggttgcagcg gcagagagcc atcctctata
      241 agcggctgaa agtgcctcct gcgattaacc agttcaccca ggccctggac cgccaaacag
      301 ctactcagct gcttaagctg gcccacaagt acagaccaga gacaaagcaa gagaagaagc
      361 agagactgtt ggcccgggcc gagaagaagg ctgctggcaa aggggacgtc ccaacgaaga
      421 gaccacctgt ccttcgagca ggagttaaca ccgtcaccac cttggtggag aacaagaaag
      481 ctcagctggt ggtgattgca cacgacgtgg atcccatcga gctggttgtc ttcttgcctg
      541 ccctgtgtcg taaaatgggg gtcccttact gcattatcaa gggaaaggca agactgggac
      601 gtctagtcca caggaagacc tgcaccactg tcgccttcac acaggtgaac tcggaagaca
      661 aaggcgcttt ggctaagctg gtggaagcta tcaggaccaa ttacaatgac agatacgatg
      721 agatccgccg tcactggggt ggcaatgtcc tgggtcctaa gtctgtggct cgtatcgcca
      781 agctcgaaaa ggcaaaggct aaagaacttg ccactaaact gggttaaatg tacactgttg
      841 agttttctgt acataaaaat aattgaaata atacaaattt tccttca
//
LOCUS       NM_000975               1017 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1,
            mRNA.
ACCESSION   NM_000975
VERSION     NM_000975.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1017)
  AUTHORS   Chen J, Lei C, Zhang H, Huang X, Yang Y, Liu J, Jia Y, Shi H, Zhang
            Y, Zhang J and Du J.
  TITLE     RPL11 promotes non-small cell lung cancer cell proliferation by
            regulating endoplasmic reticulum stress and cell autophagy
  JOURNAL   BMC Mol Cell Biol 24 (1), 7 (2023)
   PUBMED   36869281
  REMARK    GeneRIF: RPL11 promotes non-small cell lung cancer cell
            proliferation by regulating endoplasmic reticulum stress and cell
            autophagy. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1017)
  AUTHORS   Babaylova ES, Gopanenko AV, Tupikin AE, Kabilov MR, Malygin AA and
            Karpova GG.
  TITLE     Deficiency of the Ribosomal Protein uL5 Leads to Significant
            Rearrangements of the Transcriptional and Translational Landscapes
            in Mammalian Cells
  JOURNAL   Int J Mol Sci 22 (24), 13485 (2021)
   PUBMED   34948282
  REMARK    GeneRIF: Deficiency of the Ribosomal Protein uL5 Leads to
            Significant Rearrangements of the Transcriptional and Translational
            Landscapes in Mammalian Cells. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1017)
  AUTHORS   Panici B, Nakajima H, Carlston CM, Ozadam H, Cenik C and Cenik ES.
  TITLE     Loss of coordinated expression between ribosomal and mitochondrial
            genes revealed by comprehensive characterization of a large family
            with a rare Mendelian disorder
  JOURNAL   Genomics 113 (4), 1895-1905 (2021)
   PUBMED   33862179
  REMARK    GeneRIF: Loss of coordinated expression between ribosomal and
            mitochondrial genes revealed by comprehensive characterization of a
            large family with a rare Mendelian disorder.
REFERENCE   4  (bases 1 to 1017)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1017)
  AUTHORS   Arbiv OA, Cuvelier G, Klaassen RJ, Fernandez CV, Robitaille N,
            Steele M, Breakey V, Abish S, Wu J, Sinha R, Silva M, Goodyear L,
            Jardine L, Lipton JH, Corriveau-Bourque C, Brossard J, Michon B,
            Ghemlas I, Waespe N, Zlateska B, Sung L, Cada M and Dror Y.
  TITLE     Molecular analysis and genotype-phenotype correlation of
            Diamond-Blackfan anemia
  JOURNAL   Clin Genet 93 (2), 320-328 (2018)
   PUBMED   29044489
  REMARK    GeneRIF: patients with RPL11 mutations were less likely to need
            chronic treatment. Birth defects, including cardiac, skeletal, hand,
            cleft lip or palate and genitourinary malformations, also varied
            among the various genetic groups
REFERENCE   6  (bases 1 to 1017)
  AUTHORS   Graphodatsky AS, Vorobieva NV, Filipenko ML, Voronina EV, Frengen E
            and Prydz H.
  TITLE     Assignment of the L11 ribosomal protein gene (RPL11) to human
            chromosome 1p36.1-->p35 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 84 (1-2), 97-98 (1999)
   PUBMED   10343117
REFERENCE   7  (bases 1 to 1017)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   8  (bases 1 to 1017)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 1017)
  AUTHORS   Mishin,V.P., Filipenko,M.L., Muravlev,A.I., Karpova,G.G. and
            Mertvetsov,N.P.
  TITLE     [Cloning and determination of the primary structure of DNA
            complementary to the mRNA of human ribosomal protein L11]
  JOURNAL   Bioorg Khim 21 (2), 158-160 (1995)
   PUBMED   7748210
REFERENCE   10  (bases 1 to 1017)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301769
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BM740317.1, DA529750.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000643754.2/ ENSP00000496250.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BU954396.1, CA335141.1, BX118515.1, AL451000.16 and
            AA748897.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 8, 2018 this sequence version replaced NM_000975.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L5P family of ribosomal proteins. It is located in the
            cytoplasm. The protein probably associates with the 5S rRNA.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. As is typical for genes
            encoding ribosomal proteins, there are multiple processed
            pseudogenes of this gene dispersed through the genome. [provided by
            RefSeq, Dec 2010].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1017
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..1017
                     /gene="RPL11"
                     /gene_synonym="DBA7; GIG34; L11; uL5"
                     /note="ribosomal protein L11"
                     /db_xref="GeneID:6135"
                     /db_xref="HGNC:HGNC:10301"
                     /db_xref="MIM:604175"
     CDS             19..555
                     /gene="RPL11"
                     /gene_synonym="DBA7; GIG34; L11; uL5"
                     /note="isoform 1 is encoded by transcript variant 1; cell
                     growth-inhibiting protein 34; 60S ribosomal protein L11;
                     CLL-associated antigen KW-12; large ribosomal subunit
                     protein uL5"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL5 isoform 1"
                     /protein_id="NP_000966.2"
                     /db_xref="CCDS:CCDS238.1"
                     /db_xref="GeneID:6135"
                     /db_xref="HGNC:HGNC:10301"
                     /db_xref="MIM:604175"
                     /translation="MAQDQGEKENPMRELRIRKLCLNICVGESGDRLTRAAKVLEQLTG
                     QTPVFSKARYTVRSFGIRRNEKIAVHCTVRGAKAEEILEKGLKVREYELRKNNFSDTGN
                     FGFGIQEHIDLGIKYDPSIGIYGLDFYVVLGRPGFSIADKKRRTGCIGAKHRISKEEAM
                     RWFQQKYDGIILPGK"
     misc_feature    22..24
                     /gene="RPL11"
                     /gene_synonym="DBA7; GIG34; L11; uL5"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000269|PubMed:12962325, ECO:0000269|Ref.5,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P62913.2); acetylation site"
     misc_feature    148..150
                     /gene="RPL11"
                     /gene_synonym="DBA7; GIG34; L11; uL5"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (P62913.2); phosphorylation site"
     misc_feature    157..159
                     /gene="RPL11"
                     /gene_synonym="DBA7; GIG34; L11; uL5"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P62913.2); phosphorylation site"
     misc_feature    172..174
                     /gene="RPL11"
                     /gene_synonym="DBA7; GIG34; L11; uL5"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62913.2); acetylation site"
     misc_feature    271..273
                     /gene="RPL11"
                     /gene_synonym="DBA7; GIG34; L11; uL5"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62913.2); acetylation site"
     regulatory      580..585
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL11"
                     /gene_synonym="DBA7; GIG34; L11; uL5"
                     /note="hexamer: AATAAA"
     polyA_site      600
                     /gene="RPL11"
                     /gene_synonym="DBA7; GIG34; L11; uL5"
                     /note="major polyA site"
     regulatory      996..1001
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL11"
                     /gene_synonym="DBA7; GIG34; L11; uL5"
                     /note="hexamer: ATTAAA"
     polyA_site      1017
                     /gene="RPL11"
                     /gene_synonym="DBA7; GIG34; L11; uL5"
ORIGIN
        1 ctcttcctgc tctccatcat ggcgcaggat caaggtgaaa aggagaaccc catgcgggaa
       61 cttcgcatcc gcaaactctg tctcaacatc tgtgttgggg agagtggaga cagactgacg
      121 cgagcagcca aggtgttgga gcagctcaca gggcagaccc ctgtgttttc caaagctaga
      181 tacactgtca gatcctttgg catccggaga aatgaaaaga ttgctgtcca ctgcacagtt
      241 cgaggggcca aggcagaaga aatcttggag aagggtctaa aggtgcggga gtatgagtta
      301 agaaaaaaca acttctcaga tactggaaac tttggttttg ggatccagga acacatcgat
      361 ctgggtatca aatatgaccc aagcattggt atctacggcc tggacttcta tgtggtgctg
      421 ggtaggccag gtttcagcat cgcagacaag aagcgcagga caggctgcat tggggccaaa
      481 cacagaatca gcaaagagga ggccatgcgc tggttccagc agaagtatga tgggatcatc
      541 cttcctggca aataaattcc cgtttctatc caaaagagca ataaaaagtt ttcagtgaaa
      601 tgtgcaattc tgttgtgtgt tctgtgaaag gatcctggcc atattcaagt ccttggacct
      661 caagccactt aaagcttcga tgggagtagc tggtaacaac cccgtcatcc tctgattgga
      721 tgccagtatt tcctggcaga tccaagtcca agcttcatag cattcattgc ctgtgcttgc
      781 cacaccttgg ttgatgtgct gtggtgcagt agccccattt ggaggggagg gtttggttga
      841 tgttggggtt tgaatttaga gccttggtta agcagggtgc agtgctcctg tgttccagga
      901 ggccccctgc tattcagtga ttctgttctg tactagaaat tttatcagca ttgatgcgtc
      961 atgaaggaat gacaggcttt ggtgtgatgg ttgagattaa atttagactt aactgtt
//
LOCUS       NM_000976                634 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L12 (RPL12), mRNA.
ACCESSION   NM_000976
VERSION     NM_000976.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 634)
  AUTHORS   Imami K, Milek M, Bogdanow B, Yasuda T, Kastelic N, Zauber H,
            Ishihama Y, Landthaler M and Selbach M.
  TITLE     Phosphorylation of the Ribosomal Protein RPL12/uL11 Affects
            Translation during Mitosis
  JOURNAL   Mol Cell 72 (1), 84-98 (2018)
   PUBMED   30220558
  REMARK    GeneRIF: Phosphoproteomics on the fractions reveals that
            phosphorylation of serine 38 in RPL12/uL11, a known mitotic CDK1
            substrate, is strongly depleted in polysomes.
REFERENCE   2  (bases 1 to 634)
  AUTHORS   Veit G, Oliver K, Apaja PM, Perdomo D, Bidaud-Meynard A, Lin ST, Guo
            J, Icyuz M, Sorscher EJ, Hartman JL IV and Lukacs GL.
  TITLE     Ribosomal Stalk Protein Silencing Partially Corrects the
            DeltaF508-CFTR Functional Expression Defect
  JOURNAL   PLoS Biol 14 (5), e1002462 (2016)
   PUBMED   27168400
  REMARK    GeneRIF: RPL12 role in CFTR protein folding and stability
            Erratum:[PLoS Biol. 2016 Nov 2;14 (11):e1002574. PMID: 27806038]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 634)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   4  (bases 1 to 634)
  AUTHORS   Zanivan S, Maione F, Hein MY, Hernandez-Fernaud JR, Ostasiewicz P,
            Giraudo E and Mann M.
  TITLE     SILAC-based proteomics of human primary endothelial cell
            morphogenesis unveils tumor angiogenic markers
  JOURNAL   Mol Cell Proteomics 12 (12), 3599-3611 (2013)
   PUBMED   23979707
REFERENCE   5  (bases 1 to 634)
  AUTHORS   Anger AM, Armache JP, Berninghausen O, Habeck M, Subklewe M, Wilson
            DN and Beckmann R.
  TITLE     Structures of the human and Drosophila 80S ribosome
  JOURNAL   Nature 497 (7447), 80-85 (2013)
   PUBMED   23636399
REFERENCE   6  (bases 1 to 634)
  AUTHORS   Ajuh P, Kuster B, Panov K, Zomerdijk JC, Mann M and Lamond AI.
  TITLE     Functional analysis of the human CDC5L complex and identification of
            its components by mass spectrometry
  JOURNAL   EMBO J 19 (23), 6569-6581 (2000)
   PUBMED   11101529
REFERENCE   7  (bases 1 to 634)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   8  (bases 1 to 634)
  AUTHORS   Uchiumi T and Kominami R.
  TITLE     Binding of mammalian ribosomal protein complex P0.P1.P2 and protein
            L12 to the GTPase-associated domain of 28 S ribosomal RNA and effect
            on the accessibility to anti-28 S RNA autoantibody
  JOURNAL   J Biol Chem 272 (6), 3302-3308 (1997)
   PUBMED   9013569
REFERENCE   9  (bases 1 to 634)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   10  (bases 1 to 634)
  AUTHORS   Chu W, Presky DH, Swerlick RA and Burns DK.
  TITLE     The primary structure of human ribosomal protein L12
  JOURNAL   Nucleic Acids Res 21 (3), 749 (1993)
   PUBMED   8441690
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.194580.1,
            SRR5189661.43552.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA2150385 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000361436.10/ ENSP00000354739.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from CB155565.1, BC105603.1 and BC050644.1.
            On Nov 22, 2018 this sequence version replaced NM_000976.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L11P family of ribosomal proteins. It is located in the
            cytoplasm. The protein binds directly to the 26S rRNA. This gene is
            co-transcribed with the U65 snoRNA, which is located in its fourth
            intron. As is typical for genes encoding ribosomal proteins, there
            are multiple processed pseudogenes of this gene dispersed through
            the genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..634
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.3"
     gene            1..634
                     /gene="RPL12"
                     /gene_synonym="L12; uL11"
                     /note="ribosomal protein L12"
                     /db_xref="GeneID:6136"
                     /db_xref="HGNC:HGNC:10302"
                     /db_xref="MIM:180475"
     misc_feature    2
                     /gene="RPL12"
                     /gene_synonym="L12; uL11"
                     /note="predominant transcription initiation site"
     CDS             90..587
                     /gene="RPL12"
                     /gene_synonym="L12; uL11"
                     /note="60S ribosomal protein L12"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL11"
                     /protein_id="NP_000967.1"
                     /db_xref="CCDS:CCDS6872.1"
                     /db_xref="GeneID:6136"
                     /db_xref="HGNC:HGNC:10302"
                     /db_xref="MIM:180475"
                     /translation="MPPKFDPNEIKVVYLRCTGGEVGATSALAPKIGPLGLSPKKVGDD
                     IAKATGDWKGLRITVKLTIQNRQAQIEVVPSASALIIKALKEPPRDRKKQKNIKHSGNI
                     TFDEIVNIARQMRHRSLARELSGTIKEILGTAQSVGCNVDGRHPHDIIDDINSGAVECP
                     AS"
     misc_feature    201..203
                     /gene="RPL12"
                     /gene_synonym="L12; uL11"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P30050.1);
                     phosphorylation site"
     misc_feature    249..251
                     /gene="RPL12"
                     /gene_synonym="L12; uL11"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P30050.1); acetylation site"
     misc_feature    582..584
                     /gene="RPL12"
                     /gene_synonym="L12; uL11"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P30050.1); phosphorylation site"
     regulatory      607..612
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL12"
                     /gene_synonym="L12; uL11"
                     /note="hexamer: AATAAA"
     polyA_site      634
                     /gene="RPL12"
                     /gene_synonym="L12; uL11"
                     /note="major polyA site"
ORIGIN
        1 cctctcggct ttcggctcgg aggaggccaa ggtgcaactt ccttcggtcg tcccgaatcc
       61 gggttcatcc gacaccagcc gcctccacca tgccgccgaa gttcgacccc aacgagatca
      121 aagtcgtata cctgaggtgc accggaggtg aagtcggtgc cacttctgcc ctggccccca
      181 agatcggccc cctgggtctg tctccaaaaa aagttggtga tgacattgcc aaggcaacgg
      241 gtgactggaa gggcctgagg attacagtga aactgaccat tcagaacaga caggcccaga
      301 ttgaggtggt gccttctgcc tctgccctga tcatcaaagc cctcaaggaa ccaccaagag
      361 acagaaagaa acagaaaaac attaaacaca gtgggaatat cacttttgat gagattgtca
      421 acattgctcg acagatgcgg caccgatcct tagccagaga actctctgga accattaaag
      481 agatcctggg gactgcccag tcagtgggct gtaatgttga tggccgccat cctcatgaca
      541 tcatcgatga catcaacagt ggtgctgtgg aatgcccagc cagttaagca caaaggaaaa
      601 catttcaata aaggatcatt tgacaactgg tgga
//
LOCUS       NM_000977               2187 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L13 (RPL13), transcript variant 1,
            mRNA.
ACCESSION   NM_000977
VERSION     NM_000977.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2187)
  AUTHORS   Costantini A, Alm JJ, Tonelli F, Valta H, Huber C, Tran AN, Daponte
            V, Kirova N, Kwon YU, Bae JY, Chung WY, Tan S, Sznajer Y, Nishimura
            G, Nareoja T, Warren AJ, Cormier-Daire V, Kim OH, Forlino A, Cho TJ
            and Makitie O.
  TITLE     Novel RPL13 Variants and Variable Clinical Expressivity in a Human
            Ribosomopathy With Spondyloepimetaphyseal Dysplasia
  JOURNAL   J Bone Miner Res 36 (2), 283-297 (2021)
   PUBMED   32916022
  REMARK    GeneRIF: Novel RPL13 Variants and Variable Clinical Expressivity in
            a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.
REFERENCE   2  (bases 1 to 2187)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2187)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2187)
  AUTHORS   Schroeder AM, Allahyari M, Vogler G, Missinato MA, Nielsen T, Yu MS,
            Theis JL, Larsen LA, Goyal P, Rosenfeld JA, Nelson TJ, Olson TM,
            Colas AR, Grossfeld P and Bodmer R.
  TITLE     Model system identification of novel congenital heart disease gene
            candidates: focus on RPL13
  JOURNAL   Hum Mol Genet 28 (23), 3954-3969 (2019)
   PUBMED   31625562
  REMARK    GeneRIF: Using a combination of human genetics and cardiac model
            systems, RPL13 gene was identified as a new candidate for congenital
            heart pathogenesis.
REFERENCE   5  (bases 1 to 2187)
  AUTHORS   Le Caignec C, Ory B, Lamoureux F, O'Donohue MF, Orgebin E,
            Lindenbaum P, Teletchea S, Saby M, Hurst A, Nelson K, Gilbert SR,
            Wilnai Y, Zeitlin L, Segev E, Tesfaye R, Nizon M, Cogne B, Bezieau
            S, Geoffroy L, Hamel A, Mayrargue E, de Courtivron B,
            Decock-Giraudaud A, Charrier C, Pichon O, Retiere C, Redon R, Pepler
            A, McWalter K, Da Costa L, Toutain A, Gleizes PE, Baud'huin M and
            Isidor B.
  TITLE     RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe
            Short Stature
  JOURNAL   Am J Hum Genet 105 (5), 1040-1047 (2019)
   PUBMED   31630789
  REMARK    GeneRIF: The identified RPL13 variants cause a human ribosomopathy
            defined by a rare skeletal dysplasia.
REFERENCE   6  (bases 1 to 2187)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   7  (bases 1 to 2187)
  AUTHORS   Yaseen NR and Blobel G.
  TITLE     Cloning and characterization of human karyopherin beta3
  JOURNAL   Proc Natl Acad Sci U S A 94 (9), 4451-4456 (1997)
   PUBMED   9114010
REFERENCE   8  (bases 1 to 2187)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 2187)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   10  (bases 1 to 2187)
  AUTHORS   Adams SM, Helps NR, Sharp MG, Brammar WJ, Walker RA and Varley JM.
  TITLE     Isolation and characterization of a novel gene with differential
            expression in benign and malignant human breast tumours
  JOURNAL   Hum Mol Genet 1 (2), 91-96 (1992)
   PUBMED   1301162
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK290893.1, AK127579.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000311528.10/ ENSP00000307889.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BC106058.1 and AC092123.4.
            On Feb 5, 2020 this sequence version replaced NM_000977.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L13E family of ribosomal proteins. It is located in the
            cytoplasm. This gene is expressed at significantly higher levels in
            benign breast lesions than in breast carcinomas. Alternatively
            spliced transcript variants encoding distinct isoforms have been
            found for this gene. As is typical for genes encoding ribosomal
            proteins, there are multiple processed pseudogenes of this gene
            dispersed through the genome. [provided by RefSeq, Jul 2011].
            Transcript Variant: This variant (1) is the predominant transcript.
            It encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2187
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..2187
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13; SEMDIST"
                     /note="ribosomal protein L13"
                     /db_xref="GeneID:6137"
                     /db_xref="HGNC:HGNC:10303"
                     /db_xref="MIM:113703"
     misc_feature    43..45
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13; SEMDIST"
                     /note="upstream in-frame stop codon"
     CDS             52..687
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13; SEMDIST"
                     /EC_number="3.6.5.3"
                     /note="isoform 1 is encoded by transcript variant 1; 60S
                     ribosomal protein L13; breast basic conserved protein 1;
                     large ribosomal subunit protein eL13; breast basic
                     conserved 1"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL13 isoform 1"
                     /protein_id="NP_000968.2"
                     /db_xref="CCDS:CCDS10979.1"
                     /db_xref="GeneID:6137"
                     /db_xref="HGNC:HGNC:10303"
                     /db_xref="MIM:113703"
                     /translation="MAPSRNGMVLKPHFHKDWQRRVATWFNQPARKIRRRKARQAKARR
                     IAPRPASGPIRPIVRCPTVRYHTKVRAGRGFSLEELRVAGIHKKVARTIGISVDPRRRN
                     KSTESLQANVQRLKEYRSKLILFPRKPSAPKKGDSSAEELKLATQLTGPVMPVRNVYKK
                     EKARVITEEEKNFKAFASLRMARANARLFGIRAKRAKEAAEQDVEKKK"
     misc_feature    97..99
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13; SEMDIST"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P26373.4); acetylation site"
     misc_feature    205..207
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13; SEMDIST"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P26373.4); phosphorylation site"
     misc_feature    280..282
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13; SEMDIST"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P26373.4); phosphorylation site"
     misc_feature    367..369
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13; SEMDIST"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P26373.4); phosphorylation site"
     misc_feature    580..582
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13; SEMDIST"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P26373.4); acetylation site"
     regulatory      683..688
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13; SEMDIST"
                     /note="hexamer: AATAAA"
     polyA_site      711
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13; SEMDIST"
                     /note="major polyA site"
     polyA_site      940
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13; SEMDIST"
     regulatory      1067..1072
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13; SEMDIST"
                     /note="hexamer: AATAAA"
     polyA_site      1085
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13; SEMDIST"
     polyA_site      1992
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13; SEMDIST"
     regulatory      2163..2168
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13; SEMDIST"
                     /note="hexamer: AATACA"
     polyA_site      2187
                     /gene="RPL13"
                     /gene_synonym="BBC1; D16S444E; D16S44E; eL13; L13; SEMDIST"
ORIGIN
        1 ctttccgctc ggctgttttc ctgcgcagga gccgcagggc cgtaggcagc catggcgccc
       61 agccggaatg gcatggtctt gaagccccac ttccacaagg actggcagcg gcgcgtggcc
      121 acgtggttca accagccggc ccgtaagatc cgcagacgta aggcccggca agccaaggcg
      181 cgccgcatcg ccccgcgccc cgcgtcgggt cccatccggc ccatcgtgcg ctgccccacg
      241 gttcggtacc acacgaaggt gcgcgccggc cgcggcttca gcctggagga gctcagggtg
      301 gccggcattc acaagaaggt ggcccggacc atcggcattt ctgtggatcc gaggaggcgg
      361 aacaagtcca cggagtccct gcaggccaac gtgcagcggc tgaaggagta ccgctccaaa
      421 ctcatcctct tccccaggaa gccctcggcc cccaagaagg gagacagttc tgctgaagaa
      481 ctgaaactgg ccacccagct gaccggaccg gtcatgcccg tccggaacgt ctataagaag
      541 gagaaagctc gagtcatcac tgaggaagag aagaatttca aagccttcgc tagtctccgt
      601 atggcccgtg ccaacgcccg gctcttcggc atacgggcaa aaagagccaa ggaagccgca
      661 gaacaggatg ttgaaaagaa aaaataaagc cctcctgggg acttggaatc agtcggcagt
      721 catgctgggt ctccacgtgg tgtgtttcgt gggaacaact gggcctggga tggggcttca
      781 ctgctgtgac ttcctcctgc caggggattt ggggctttct tgaaagacag tccaagccct
      841 ggataatgct ttactttctg tgttgaagca ctgttggttg tttggttagt gactgatgta
      901 aaacggtttt cttgtgggga ggttacagag gctgacttca gagtggactt gtgttttttc
      961 tttttaaaga ggcaaggttg ggctggtgct cacagctgta atcccagcac tttgaggttg
     1021 gctgggagtt caagaccagc ctggccaaca tgtcagaact actaaaaata aagaaatcag
     1081 ccatgcttgg tgctgcacac ttgtagttgc agctcctggg aggcagaggt gagggatcac
     1141 ttaacccagg aggcagaggc tgcactgagc caggatcacg ccactgcact ctagcctggg
     1201 caacagtgag actgtctcaa aaaaaaaaaa agagacaggg tcttcggcac ccaggctgga
     1261 gtacagtgcc acaatcatgg ctcactgcag tcttgaactc atggcctcaa gcagtcctcc
     1321 ctcagcctcc caagtagagg ggtttatagg cacgagaccc tgcacccaac ctagagttgc
     1381 cttttttaag caaagcagtt tctagttaat gtagcatctt ggactttggg gcgtcattct
     1441 taagcttgtt gtgcccggta accatggtcc tcttgctctg attaaccctt ccttcaatgg
     1501 gcttcttcac ccagacacca aggtatgaga tggccctgcc aagtgtcggc ctctcctgtt
     1561 aaacaaaaac attctaaagc cattgttctt gcttcatgga caagaggcag ccagagagag
     1621 tgccagggtg ccctggtctg agctggcatc cccatgtctt ctgtgtccga gggcagcatg
     1681 gtttctcgtg cagtgctcag acacagcctg ccctagtcct accagctcac agcagcacct
     1741 gctctccttg gcagctatgg ccatgacaac cccagagaag cagcttcagg gaccgagtca
     1801 gattctgttt tgtctacatg cctctgccgg gtgccggtat tgaggcaccc agggagctgt
     1861 tactggcgtg gaaataggtg atgctgctac ctctgctgct gcactcacag ccacacttga
     1921 tacacgatga caccttgctt gtttggaaac atctaaacat ctagtagatg acttgcaggc
     1981 tgttggctac cagtttcctg tctgaggtgt atatgttaac ttcgtgatca gtttgtatgt
     2041 ttgggactct tgtcctatgt aaagttaagg tgggccgggt gcagtggctc acgcctgtaa
     2101 tcctaacact gggaggccga ggcgggtgga tcacctgatg gtgaaacctc atctctactg
     2161 aaaatacaaa aattagctga gtggtga
//
LOCUS       NM_000978               2706 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L23 (RPL23), mRNA.
ACCESSION   NM_000978
VERSION     NM_000978.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2706)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2706)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2706)
  AUTHORS   Qi Y, Li X, Chang C, Xu F, He Q, Zhao Y and Wu L.
  TITLE     Ribosomal protein L23 negatively regulates cellular apoptosis via
            the RPL23/Miz-1/c-Myc circuit in higher-risk myelodysplastic
            syndrome
  JOURNAL   Sci Rep 7 (1), 2323 (2017)
   PUBMED   28539603
  REMARK    GeneRIF: Because RPL23 is encoded by a target gene of c-Myc, the
            RPL23/Miz-1/c-Myc regulatory circuit provides a feedback loop that
            links efficient RPL23 expression with c-Myc's function to suppress
            Miz-1-induced Cdk inhibitors and thereby leads to apoptotic
            resistance in higher-risk myelodysplastic syndrome patients
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2706)
  AUTHORS   Fang H, Kang J, Du R, Zhao X, Zhang X, Ren D, Zhang Y, Lu Z, Wu S,
            Zheng W and Wen J.
  TITLE     Growth inhibitory effect of adenovirus-mediated tissue-targeted
            expression of ribosomal protein L23 on human colorectal carcinoma
            cells
  JOURNAL   Oncol Rep 34 (2), 763-770 (2015)
   PUBMED   26044651
  REMARK    GeneRIF: the data presented here suggest that CEA promoter-targeted
            exogenous RPL23 expression could be of therapeutic value against
            human colorectal carcinoma that retains wt-p53.
REFERENCE   5  (bases 1 to 2706)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   6  (bases 1 to 2706)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   7  (bases 1 to 2706)
  AUTHORS   Yaseen NR and Blobel G.
  TITLE     Cloning and characterization of human karyopherin beta3
  JOURNAL   Proc Natl Acad Sci U S A 94 (9), 4451-4456 (1997)
   PUBMED   9114010
REFERENCE   8  (bases 1 to 2706)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 2706)
  AUTHORS   Herault Y, Michel D, Chatelain G and Brun G.
  TITLE     cDNA and predicted amino acid sequences of the human ribosomal
            protein genes rpS12 and rpL17
  JOURNAL   Nucleic Acids Res 19 (14), 4001 (1991)
   PUBMED   1861993
REFERENCE   10  (bases 1 to 2706)
  AUTHORS   Berchtold MW and Berger MC.
  TITLE     Isolation and analysis of a human cDNA highly homologous to the
            yeast gene encoding L17A ribosomal protein
  JOURNAL   Gene 102 (2), 283-288 (1991)
   PUBMED   1874450
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CB133887.1, SRR1803614.109555.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000479035.7/ ENSP00000420311.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from X55954.1, CA437923.1 and AC110749.12.
            On Nov 22, 2018 this sequence version replaced NM_000978.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L14P family of ribosomal proteins. It is located in the
            cytoplasm. This gene has been referred to as rpL17 because the
            encoded protein shares amino acid identity with ribosomal protein
            L17 from Saccharomyces cerevisiae; however, its official symbol is
            RPL23. As is typical for genes encoding ribosomal proteins, there
            are multiple processed pseudogenes of this gene dispersed through
            the genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2706
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..2706
                     /gene="RPL23"
                     /gene_synonym="L23; rpL17; uL14"
                     /note="ribosomal protein L23"
                     /db_xref="GeneID:9349"
                     /db_xref="HGNC:HGNC:10316"
                     /db_xref="MIM:603662"
     CDS             12..434
                     /gene="RPL23"
                     /gene_synonym="L23; rpL17; uL14"
                     /note="60S ribosomal protein L23; ribosomal protein L17;
                     60S ribosomal protein L17"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL14"
                     /protein_id="NP_000969.1"
                     /db_xref="CCDS:CCDS11330.1"
                     /db_xref="GeneID:9349"
                     /db_xref="HGNC:HGNC:10316"
                     /db_xref="MIM:603662"
                     /translation="MSKRGRGGSSGAKFRISLGLPVGAVINCADNTGAKNLYIISVKGI
                     KGRLNRLPAAGVGDMVMATVKKGKPELRKKVHPAVVIRQRKSYRRKDGVFLYFEDNAGV
                     IVNNKGEMKGSAITGPVAKECADLWPRIASNAGSIA"
     misc_feature    60..62
                     /gene="RPL23"
                     /gene_synonym="L23; rpL17; uL14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (P62829.1); phosphorylation site"
     misc_feature    123..125
                     /gene="RPL23"
                     /gene_synonym="L23; rpL17; uL14"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455; propagated from
                     UniProtKB/Swiss-Prot (P62829.1); phosphorylation site"
     regulatory      456..461
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL23"
                     /gene_synonym="L23; rpL17; uL14"
                     /note="hexamer: AATAAA"
     regulatory      478..483
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL23"
                     /gene_synonym="L23; rpL17; uL14"
                     /note="hexamer: ATTAAA"
     polyA_site      478
                     /gene="RPL23"
                     /gene_synonym="L23; rpL17; uL14"
                     /note="major polyA site"
     polyA_site      485
                     /gene="RPL23"
                     /gene_synonym="L23; rpL17; uL14"
     regulatory      1332..1337
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL23"
                     /gene_synonym="L23; rpL17; uL14"
                     /note="hexamer: AGTAAA"
     polyA_site      1356
                     /gene="RPL23"
                     /gene_synonym="L23; rpL17; uL14"
     regulatory      1763..1768
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL23"
                     /gene_synonym="L23; rpL17; uL14"
                     /note="hexamer: AATACA"
     polyA_site      1789
                     /gene="RPL23"
                     /gene_synonym="L23; rpL17; uL14"
     regulatory      2680..2685
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL23"
                     /gene_synonym="L23; rpL17; uL14"
                     /note="hexamer: ATTAAA"
     polyA_site      2706
                     /gene="RPL23"
                     /gene_synonym="L23; rpL17; uL14"
ORIGIN
        1 cggcgttcaa gatgtcgaag cgaggacgtg gtgggtcctc tggtgcgaaa ttccggattt
       61 ccttgggtct tccggtagga gctgtaatca attgtgctga caacacagga gccaaaaacc
      121 tgtatatcat ctccgtgaag gggatcaagg gacggctgaa cagacttccc gctgctggtg
      181 tgggtgacat ggtgatggcc acagtcaaga aaggcaaacc agagctcaga aaaaaggtac
      241 atccagcagt ggtcattcga caacgaaagt cataccgtag aaaagatggc gtgtttcttt
      301 attttgaaga taatgcagga gtcatagtga acaataaagg cgagatgaaa ggttctgcca
      361 ttacaggacc agtagcaaag gagtgtgcag acttgtggcc ccggattgca tccaatgctg
      421 gcagcattgc atgattctcc agtatatttg taaaaaataa aaaaaaaaac taaacccatt
      481 aaaaagtatt tgtttgcagt gcttgtctcc ctgttcactt ccagggttca agcgattctc
      541 ctgcctcagc ctcctaagta gctgggatta caggcacctg ccgtcatgcc tggctagttt
      601 ttgtattttt ggtggagaca gggtttcacc atgtttgcca aacgactcaa actcctgatc
      661 tcaagtgatc tgcccaccca ggcctctaca gtgtttttga cataccctga ccatcacttt
      721 tctgaaatgg aaactctggg catttttttt ttaaagcaat ccttgctttt ttgtgagttt
      781 gcagactttc agcatcttcc aattgctgta tttacaattt tggcctcaaa aagtattatt
      841 tgggttttga gtcccaaaaa taatagtaga tactgctcaa tgactggcta tacatggtag
      901 cttctcctgg agtgaggaag gcattcaaat ggctgggcgc ggtagctggc acctgtaatc
      961 ccaacacttt cggaggccaa ggcaggcaga tcatgaggtc aggagttcaa gaccaggctg
     1021 accaacgtgg tgaaacctcc tcttttctaa aaatacaaaa attagctggg cgtggtggcg
     1081 caccgcctgt aatctcagct actgagagaa tcgcttgaac ctgggaggtg gagtttgcag
     1141 cgagtcgaga ttgcaccatt gtactccatc cagcctgggc aacggagcaa gattccgttc
     1201 ccgcccccgc cccaaaaaaa ggcattgaag ttaagataga ctatatagtt agatcctgga
     1261 cacacacatg gattttgagg aatgatgtga gtttgtttat gtatgtacat tttagcagtt
     1321 aacagatttg gagtaaattg aatatttata aaacaacagt aattgccatg taggtttact
     1381 gtcatagtgg aagatgatta agttgatggt acctacaggt attttgctat gaaaatgttt
     1441 tgacaaacag gatgatcgtg taatttatgt tccaagctct agtttgagaa tggaagaatg
     1501 tggtaaattt ttgccaactg aacaggcata aagcgctgat aataagggac ttggccttaa
     1561 ggtaggaggt tgttagcatt tctttctaaa cgtgtaagag tttatttagg tgacacccag
     1621 cgttttggaa aaatgggtgt ttgtttagaa caataatttg gagggaagtg gactaaacag
     1681 ggtttttaga ttaaggtttg tgtttatgta tctgtatctg caaatactca gccataaatg
     1741 tttctacctg taagttgggt ataatacaag ctccacttgg tatcaaaaag gactaccctt
     1801 agtgtcttcc atgactagtt atggaatgta ccagacctag agaggagttg ttctaacctg
     1861 gagcttttga aaatgtttcc ggtccatacc ctagaccaat taagtcagac tgcagaatag
     1921 gactcagaca tcagaattgt gaagctccca ggagatgtca aggtataccc aagactgaga
     1981 accagtaccc tgtctagact gaaccaggct tggttttaga agtattaaat ctcgcctggg
     2041 tacggtggct cacacctata atcccagcac tttgggaggc tgaggtgggt ggatcatctg
     2101 aggtcaggag agtgagacca gcctgtccaa catgttgaaa ccccatctct actatacaaa
     2161 attagccagg catggtggtg catgctgtaa tcccagctac ttgggaggct gaggcaggag
     2221 aattgcttga accccggaga tggaggttgc agtgagctga ggtcgcacga ttgtgctcca
     2281 gcctgggcaa ccagtgaaac tctgggggga aagaaaaaaa atgtattaaa tctctagttt
     2341 tagagagtta caccataaca tccctgagta tggtcaattt caagtcagct ttagtgtgac
     2401 aagcccctag gcccaccatt tatgtcttta tatattatgg caatatatga tccttatata
     2461 ttaaccacta atcgctgctg tttttgaatg ttatcttttc tgaggcagtc ttgctctgtc
     2521 acacaggctg gagtgcagta acaccactga agctcactgt aactttgaac tgctggactt
     2581 ggaatcctcc tgctgtggcc ttcaaagggc tgcaattaca agtgtgagcc actgcatccc
     2641 acctcacatt ttattctttg gagatttttt ttgacttgga ttaaaaaact ttatatttac
     2701 acttca
//
LOCUS       NM_000979                643 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens ribosomal protein L18 (RPL18), transcript variant 1,
            mRNA.
ACCESSION   NM_000979
VERSION     NM_000979.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 643)
  AUTHORS   Wang G, Qin M, Zhang B, Yan Y, Yang F, Chen Q, Liu Y, Qiao F and Ni
            Y.
  TITLE     Decreased expression of RPL15 and RPL18 exacerbated the
            calcification of valve interstitial cells during aortic valve
            calcification
  JOURNAL   Cell Biol Int 47 (10), 1749-1759 (2023)
   PUBMED   37431269
  REMARK    GeneRIF: Decreased expression of RPL15 and RPL18 exacerbated the
            calcification of valve interstitial cells during aortic valve
            calcification.
REFERENCE   2  (bases 1 to 643)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 643)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 643)
  AUTHORS   Odintsova TI, Muller EC, Ivanov AV, Egorov TA, Bienert R, Vladimirov
            SN, Kostka S, Otto A, Wittmann-Liebold B and Karpova GG.
  TITLE     Characterization and analysis of posttranslational modifications of
            the human large cytoplasmic ribosomal subunit proteins by mass
            spectrometry and Edman sequencing
  JOURNAL   J Protein Chem 22 (3), 249-258 (2003)
   PUBMED   12962325
REFERENCE   5  (bases 1 to 643)
  AUTHORS   Yoshihama M, Uechi T, Asakawa S, Kawasaki K, Kato S, Higa S, Maeda
            N, Minoshima S, Tanaka T, Shimizu N and Kenmochi N.
  TITLE     The human ribosomal protein genes: sequencing and comparative
            analysis of 73 genes
  JOURNAL   Genome Res 12 (3), 379-390 (2002)
   PUBMED   11875025
REFERENCE   6  (bases 1 to 643)
  AUTHORS   Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, Mann M and
            Lamond AI.
  TITLE     Directed proteomic analysis of the human nucleolus
  JOURNAL   Curr Biol 12 (1), 1-11 (2002)
   PUBMED   11790298
REFERENCE   7  (bases 1 to 643)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   8  (bases 1 to 643)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 643)
  AUTHORS   Puder M, Barnard GF, Staniunas RJ, Steele GD Jr and Chen LB.
  TITLE     Nucleotide and deduced amino acid sequence of human ribosomal
            protein L18
  JOURNAL   Biochim Biophys Acta 1216 (1), 134-136 (1993)
   PUBMED   8218404
REFERENCE   10  (bases 1 to 643)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301769
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.247865.1,
            SRR1163657.51232.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000549920.6/ ENSP00000447001.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BM764512.1 and AK026558.1.
            On Nov 22, 2018 this sequence version replaced NM_000979.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a member of the
            L18E family of ribosomal proteins that is a component of the 60S
            subunit. As is typical for genes encoding ribosomal proteins, there
            are multiple processed pseudogenes of this gene dispersed through
            the genome. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, Jul 2012].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..643
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..643
                     /gene="RPL18"
                     /gene_synonym="DBA18; eL18; L18"
                     /note="ribosomal protein L18"
                     /db_xref="GeneID:6141"
                     /db_xref="HGNC:HGNC:10310"
                     /db_xref="MIM:604179"
     misc_feature    3
                     /gene="RPL18"
                     /gene_synonym="DBA18; eL18; L18"
                     /note="transcription initiation site"
     CDS             36..602
                     /gene="RPL18"
                     /gene_synonym="DBA18; eL18; L18"
                     /note="isoform 1 is encoded by transcript variant 1; 60S
                     ribosomal protein L18; large ribosomal subunit protein
                     eL18"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL18 isoform 1"
                     /protein_id="NP_000970.1"
                     /db_xref="CCDS:CCDS12726.1"
                     /db_xref="GeneID:6141"
                     /db_xref="HGNC:HGNC:10310"
                     /db_xref="MIM:604179"
                     /translation="MGVDIRHNKDRKVRRKEPKSQDIYLRLLVKLYRFLARRTNSTFNQ
                     VVLKRLFMSRTNRPPLSLSRMIRKMKLPGRENKTAVVVGTITDDVRVQEVPKLKVCALR
                     VTSRARSRILRAGGKILTFDQLALDSPKGCGTVLLSGPRKGREVYRHFGKAPGTPHSHT
                     KPYVRSKGRKFERARGRRASRGYKN"
     misc_feature    423..425
                     /gene="RPL18"
                     /gene_synonym="DBA18; eL18; L18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q07020.2); phosphorylation site"
     misc_feature    486..599
                     /gene="RPL18"
                     /gene_synonym="DBA18; eL18; L18"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07020.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    507..509
                     /gene="RPL18"
                     /gene_synonym="DBA18; eL18; L18"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q07020.2); phosphorylation site"
     regulatory      622..627
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL18"
                     /gene_synonym="DBA18; eL18; L18"
                     /note="hexamer: ATTAAA"
     polyA_site      643
                     /gene="RPL18"
                     /gene_synonym="DBA18; eL18; L18"
                     /note="major polyA site"
ORIGIN
        1 ctctttccgg acctggccga gcaggaggcg ccatcatggg agtggacatc cgccataaca
       61 aggaccgaaa ggttcggcgc aaggagccca agagccagga tatctacctg aggctgttgg
      121 tcaagttata caggtttctg gccagaagaa ccaactccac attcaaccag gttgtgttga
      181 agaggttgtt tatgagtcgc accaaccggc cgcctctgtc cctttcccgg atgatccgga
      241 agatgaagct tcctggccgg gaaaacaaga cggccgtggt tgtggggacc ataactgatg
      301 atgtgcgggt tcaggaggta cccaaactga aggtatgtgc actgcgcgtg accagccggg
      361 cccgcagccg catcctcagg gcagggggca agatcctcac tttcgaccag ctggccctgg
      421 actcccctaa gggctgtggc actgtcctgc tctccggtcc tcgcaagggc cgagaggtgt
      481 accggcattt cggcaaggcc ccaggaaccc cgcacagcca caccaaaccc tacgtccgct
      541 ccaagggccg gaagttcgag cgtgccagag gccgacgggc cagccgaggc tacaaaaact
      601 aaccctggat cctactctct tattaaaaag atttttgctg aca
//
LOCUS       NM_000980                634 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L18a (RPL18A), mRNA.
ACCESSION   NM_000980
VERSION     NM_000980.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 634)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 634)
  AUTHORS   Fasci D, van Ingen H, Scheltema RA and Heck AJR.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   3  (bases 1 to 634)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 634)
  AUTHORS   Behrmann E, Loerke J, Budkevich TV, Yamamoto K, Schmidt A, Penczek
            PA, Vos MR, Burger J, Mielke T, Scheerer P and Spahn CM.
  TITLE     Structural snapshots of actively translating human ribosomes
  JOURNAL   Cell 161 (4), 845-857 (2015)
   PUBMED   25957688
REFERENCE   5  (bases 1 to 634)
  AUTHORS   Dhar D, Mapa K, Pudi R, Srinivasan P, Bodhinathan K and Das S.
  TITLE     Human ribosomal protein L18a interacts with hepatitis C virus
            internal ribosome entry site
  JOURNAL   Arch Virol 151 (3), 509-524 (2006)
   PUBMED   16195786
  REMARK    GeneRIF: L18a might influence the HCV IRES mediated translation.
REFERENCE   6  (bases 1 to 634)
  AUTHORS   Yoshihama M, Uechi T, Asakawa S, Kawasaki K, Kato S, Higa S, Maeda
            N, Minoshima S, Tanaka T, Shimizu N and Kenmochi N.
  TITLE     The human ribosomal protein genes: sequencing and comparative
            analysis of 73 genes
  JOURNAL   Genome Res 12 (3), 379-390 (2002)
   PUBMED   11875025
REFERENCE   7  (bases 1 to 634)
  AUTHORS   Jakel S, Mingot JM, Schwarzmaier P, Hartmann E and Gorlich D.
  TITLE     Importins fulfil a dual function as nuclear import receptors and
            cytoplasmic chaperones for exposed basic domains
  JOURNAL   EMBO J 21 (3), 377-386 (2002)
   PUBMED   11823430
REFERENCE   8  (bases 1 to 634)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   9  (bases 1 to 634)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   10  (bases 1 to 634)
  AUTHORS   Gramatikoff K, Schaffner W and Georgiev O.
  TITLE     The leucine zipper of c-Jun binds to ribosomal protein L18a: a role
            in Jun protein regulation?
  JOURNAL   Biol Chem Hoppe Seyler 376 (5), 321-325 (1995)
   PUBMED   7662174
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CD174123.1, CD173034.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000222247.10/ ENSP00000222247.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from HY050156.1, BC007512.2 and BI753938.1.
            On Nov 22, 2018 this sequence version replaced NM_000980.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a member of the
            L18AE family of ribosomal proteins that is a component of the 60S
            subunit. The encoded protein may play a role in viral replication
            by interacting with the hepatitis C virus internal ribosome entry
            site (IRES). This gene is co-transcribed with the U68 snoRNA,
            located within the third intron. As is typical for genes encoding
            ribosomal proteins, there are multiple processed pseudogenes of
            this gene dispersed throughout the genome. [provided by RefSeq, Jul
            2012].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..634
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..634
                     /gene="RPL18A"
                     /gene_synonym="eL20; L18A"
                     /note="ribosomal protein L18a"
                     /db_xref="GeneID:6142"
                     /db_xref="HGNC:HGNC:10311"
                     /db_xref="MIM:604178"
     misc_feature    13
                     /gene="RPL18A"
                     /gene_synonym="eL20; L18A"
                     /note="transcription initiation site"
     CDS             48..578
                     /gene="RPL18A"
                     /gene_synonym="eL20; L18A"
                     /note="60S ribosomal protein L18a; ribosomal protein
                     L18a-like protein"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL20"
                     /protein_id="NP_000971.1"
                     /db_xref="CCDS:CCDS12367.1"
                     /db_xref="GeneID:6142"
                     /db_xref="HGNC:HGNC:10311"
                     /db_xref="MIM:604178"
                     /translation="MKASGTLREYKVVGRCLPTPKCHTPPLYRMRIFAPNHVVAKSRFW
                     YFVSQLKKMKKSSGEIVYCGQVFEKSPLRVKNFGIWLRYDSRSGTHNMYREYRDLTTAG
                     AVTQCYRDMGARHRARAHSIQIMKVEEIAASKCRRPAVKQFHDSKIKFPLPHRVLRRQH
                     KPRFTTKRPNTFF"
     misc_feature    234..236
                     /gene="RPL18A"
                     /gene_synonym="eL20; L18A"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455; propagated from
                     UniProtKB/Swiss-Prot (Q02543.2); phosphorylation site"
     misc_feature    258..260
                     /gene="RPL18A"
                     /gene_synonym="eL20; L18A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q02543.2); phosphorylation site"
     misc_feature    414..416
                     /gene="RPL18A"
                     /gene_synonym="eL20; L18A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P62717; propagated from
                     UniProtKB/Swiss-Prot (Q02543.2); phosphorylation site"
     regulatory      608..613
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL18A"
                     /gene_synonym="eL20; L18A"
                     /note="hexamer: AATAAA"
     polyA_site      634
                     /gene="RPL18A"
                     /gene_synonym="eL20; L18A"
                     /note="major polyA site"
ORIGIN
        1 agaggacact tccttttgcg ggtggcggcg aacgcggaga gcacgccatg aaggcctcgg
       61 gcacgctacg agagtacaag gtagtgggtc gctgcctgcc cacccccaaa tgccacacgc
      121 cgcccctcta ccgcatgcga atctttgcgc ctaatcatgt cgtcgccaag tcccgcttct
      181 ggtactttgt atctcagtta aagaagatga agaagtcttc aggggagatt gtctactgtg
      241 ggcaggtgtt tgagaagtcc cccctgcggg tgaagaactt cgggatctgg ctgcgctatg
      301 actcccggag cggcacccac aacatgtacc gggaataccg ggacctgacc accgcaggcg
      361 ctgtcaccca gtgctaccga gacatgggtg cccggcaccg cgcccgagcc cactccattc
      421 agatcatgaa ggtggaggag atcgcggcca gcaagtgccg ccggccggct gtcaagcagt
      481 tccacgactc caagatcaag ttcccgctgc cccaccgggt cctgcgccgt cagcacaagc
      541 cacgcttcac caccaagagg cccaacacct tcttctaggt gcagggccct cgtccgggtg
      601 tgccccaaat aaactcagga acgccccggt gctc
//
LOCUS       NM_000981                737 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L19 (RPL19), transcript variant 1,
            mRNA.
ACCESSION   NM_000981
VERSION     NM_000981.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 737)
  AUTHORS   Cai Z, Wu Y, Zhang F and Wu H.
  TITLE     A three-gene signature and clinical outcome in pediatric acute
            myeloid leukemia
  JOURNAL   Clin Transl Oncol 23 (4), 866-873 (2021)
   PUBMED   32862280
  REMARK    GeneRIF: A three-gene signature and clinical outcome in pediatric
            acute myeloid leukemia.
REFERENCE   2  (bases 1 to 737)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 737)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 737)
  AUTHORS   Behrmann E, Loerke J, Budkevich TV, Yamamoto K, Schmidt A, Penczek
            PA, Vos MR, Burger J, Mielke T, Scheerer P and Spahn CM.
  TITLE     Structural snapshots of actively translating human ribosomes
  JOURNAL   Cell 161 (4), 845-857 (2015)
   PUBMED   25957688
REFERENCE   5  (bases 1 to 737)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   6  (bases 1 to 737)
  AUTHORS   Davies B and Fried M.
  TITLE     The L19 ribosomal protein gene (RPL19): gene organization,
            chromosomal mapping, and novel promoter region
  JOURNAL   Genomics 25 (2), 372-380 (1995)
   PUBMED   7789970
REFERENCE   7  (bases 1 to 737)
  AUTHORS   Henry JL, Coggin DL and King CR.
  TITLE     High-level expression of the ribosomal protein L19 in human breast
            tumors that overexpress erbB-2
  JOURNAL   Cancer Res 53 (6), 1403-1408 (1993)
   PUBMED   8095182
REFERENCE   8  (bases 1 to 737)
  AUTHORS   Kumabe T, Sohma Y and Yamamoto T.
  TITLE     Human cDNAs encoding elongation factor 1 gamma and the ribosomal
            protein L19
  JOURNAL   Nucleic Acids Res 20 (10), 2598 (1992)
   PUBMED   1598220
REFERENCE   9  (bases 1 to 737)
  AUTHORS   Feo S, Davies B and Fried M.
  TITLE     The mapping of seven intron-containing ribosomal protein genes shows
            they are unlinked in the human genome
  JOURNAL   Genomics 13 (1), 201-207 (1992)
   PUBMED   1577483
REFERENCE   10  (bases 1 to 737)
  AUTHORS   Chan,Y.L., Lin,A., McNally,J., Peleg,D., Meyuhas,O. and Wool,I.G.
  TITLE     The primary structure of rat ribosomal protein L19. A determination
            from the sequence of nucleotides in a cDNA and from the sequence of
            amino acids in the protein
  JOURNAL   J Biol Chem 262 (3), 1111-1115 (1987)
   PUBMED   3542997
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC095445.1, SRR5189664.134613.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000225430.9/ ENSP00000225430.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BC095445.1 and CF129418.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 11, 2018 this sequence version replaced NM_000981.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L19E family of ribosomal proteins. It is located in the
            cytoplasm. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..737
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..737
                     /gene="RPL19"
                     /gene_synonym="eL19; L19"
                     /note="ribosomal protein L19"
                     /db_xref="GeneID:6143"
                     /db_xref="HGNC:HGNC:10312"
                     /db_xref="MIM:180466"
     misc_feature    6..8
                     /gene="RPL19"
                     /gene_synonym="eL19; L19"
                     /note="upstream in-frame stop codon"
     CDS             63..653
                     /gene="RPL19"
                     /gene_synonym="eL19; L19"
                     /EC_number="6.3.5.5"
                     /note="isoform 1 is encoded by transcript variant 1; 60S
                     ribosomal protein L19; large ribosomal subunit protein
                     eL19"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL19 isoform 1"
                     /protein_id="NP_000972.1"
                     /db_xref="CCDS:CCDS42312.1"
                     /db_xref="GeneID:6143"
                     /db_xref="HGNC:HGNC:10312"
                     /db_xref="MIM:180466"
                     /translation="MSMLRLQKRLASSVLRCGKKKVWLDPNETNEIANANSRQQIRKLI
                     KDGLIIRKPVTVHSRARCRKNTLARRKGRHMGIGKRKGTANARMPEKVTWMRRMRILRR
                     LLRRYRESKKIDRHMYHSLYLKVKGNVFKNKRILMEHIHKLKADKARKKLLADQAEARR
                     SKTKEARKRREERLQAKKEEIIKTLSKEEETKK"
     misc_feature    99..101
                     /gene="RPL19"
                     /gene_synonym="eL19; L19"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P84098.1); phosphorylation site"
     misc_feature    531..590
                     /gene="RPL19"
                     /gene_synonym="eL19; L19"
                     /note="propagated from UniProtKB/Swiss-Prot (P84098.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    552..554
                     /gene="RPL19"
                     /gene_synonym="eL19; L19"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P84098.1); phosphorylation site"
     misc_feature    621..623
                     /gene="RPL19"
                     /gene_synonym="eL19; L19"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P84098.1); phosphorylation site"
     regulatory      711..716
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL19"
                     /gene_synonym="eL19; L19"
                     /note="hexamer: AATAAA"
     polyA_site      732
                     /gene="RPL19"
                     /gene_synonym="eL19; L19"
                     /note="major polyA site"
ORIGIN
        1 gcagataatg ggaggagccg ggcccgagcg agctctttcc tttcgctgct gcggccgcag
       61 ccatgagtat gctcaggctt cagaagaggc tcgcctctag tgtcctccgc tgtggcaaga
      121 agaaggtctg gttagacccc aatgagacca atgaaatcgc caatgccaac tcccgtcagc
      181 agatccggaa gctcatcaaa gatgggctga tcatccgcaa gcctgtgacg gtccattccc
      241 gggctcgatg ccggaaaaac accttggccc gccggaaggg caggcacatg ggcataggta
      301 agcggaaggg tacagccaat gcccgaatgc cagagaaggt cacatggatg aggagaatga
      361 ggattttgcg ccggctgctc agaagatacc gtgaatctaa gaagatcgat cgccacatgt
      421 atcacagcct gtacctgaag gtgaagggga atgtgttcaa aaacaagcgg attctcatgg
      481 aacacatcca caagctgaag gcagacaagg cccgcaagaa gctcctggct gaccaggctg
      541 aggcccgcag gtctaagacc aaggaagcac gcaagcgccg tgaagagcgc ctccaggcca
      601 agaaggagga gatcatcaag actttatcca aggaggaaga gaccaagaaa taaaacctcc
      661 cactttgtct gtacatactg gcctctgtga ttacatagat cagccattaa aataaaacaa
      721 gccttaatct gccttcc
//
LOCUS       NM_000982                566 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L21 (RPL21), mRNA.
ACCESSION   NM_000982
VERSION     NM_000982.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 566)
  AUTHORS   Khan MIK, Charles RCM, Ramachandran R, Gupta S, Govindaraju G,
            Mishra R, Rajavelu A, Coumar MS, Chavali S and Dhayalan A.
  TITLE     The ribosomal protein eL21 interacts with the protein lysine
            methyltransferase SMYD2 and regulates its steady state levels
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1868 (9), 119079 (2021)
   PUBMED   34147559
  REMARK    GeneRIF: The ribosomal protein eL21 interacts with the protein
            lysine methyltransferase SMYD2 and regulates its steady state
            levels.
REFERENCE   2  (bases 1 to 566)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 566)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   4  (bases 1 to 566)
  AUTHORS   Jefferson M, Donaszi-Ivanov A, Pollen S, Dalmay T, Saalbach G and
            Powell PP.
  TITLE     Host factors that interact with the pestivirus N-terminal protease,
            Npro, are components of the ribonucleoprotein complex
  JOURNAL   J Virol 88 (18), 10340-10353 (2014)
   PUBMED   24965446
REFERENCE   5  (bases 1 to 566)
  AUTHORS   Anger AM, Armache JP, Berninghausen O, Habeck M, Subklewe M, Wilson
            DN and Beckmann R.
  TITLE     Structures of the human and Drosophila 80S ribosome
  JOURNAL   Nature 497 (7447), 80-85 (2013)
   PUBMED   23636399
REFERENCE   6  (bases 1 to 566)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   7  (bases 1 to 566)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   8  (bases 1 to 566)
  AUTHORS   Frigerio JM, Dagorn JC and Iovanna JL.
  TITLE     Cloning, sequencing and expression of the L5, L21, L27a, L28, S5,
            S9, S10 and S29 human ribosomal protein mRNAs
  JOURNAL   Biochim Biophys Acta 1262 (1), 64-68 (1995)
   PUBMED   7772601
REFERENCE   9  (bases 1 to 566)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   10  (bases 1 to 566)
  AUTHORS   Albertsen HM, Smith SA, Mazoyer S, Fujimoto E, Stevens J, Williams
            B, Rodriguez P, Cropp CS, Slijepcevic P, Carlson M et al.
  TITLE     A physical map and candidate genes in the BRCA1 region on chromosome
            17q12-21
  JOURNAL   Nat Genet 7 (4), 472-479 (1994)
   PUBMED   7951316
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DB110702.1, DA939474.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000311549.11/ ENSP00000346027.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AL159977.10.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 16, 2020 this sequence version replaced NM_000982.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L21E family of ribosomal proteins. It is located in the
            cytoplasm. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..566
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.2"
     gene            1..566
                     /gene="RPL21"
                     /gene_synonym="eL21; HYPT12; L21"
                     /note="ribosomal protein L21"
                     /db_xref="GeneID:6144"
                     /db_xref="HGNC:HGNC:10313"
                     /db_xref="MIM:603636"
     misc_feature    1
                     /gene="RPL21"
                     /gene_synonym="eL21; HYPT12; L21"
                     /note="predominant transcription initiation site"
     misc_feature    29..31
                     /gene="RPL21"
                     /gene_synonym="eL21; HYPT12; L21"
                     /note="upstream in-frame stop codon"
     CDS             41..523
                     /gene="RPL21"
                     /gene_synonym="eL21; HYPT12; L21"
                     /EC_number="3.6.5.3"
                     /note="60S ribosomal protein L21"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL21"
                     /protein_id="NP_000973.2"
                     /db_xref="CCDS:CCDS9320.1"
                     /db_xref="GeneID:6144"
                     /db_xref="HGNC:HGNC:10313"
                     /db_xref="MIM:603636"
                     /translation="MTNTKGKRRGTRYMFSRPFRKHGVVPLATYMRIYKKGDIVDIKGM
                     GTVQKGMPHKCYHGKTGRVYNVTQHAVGIVVNKQVKGKILAKRINVRIEHIKHSKSRDS
                     FLKRVKENDQKKKEAKEKGTWVQLKRQPAPPREAHFVRTNGKEPELLEPIPYEFMA"
     misc_feature    374..475
                     /gene="RPL21"
                     /gene_synonym="eL21; HYPT12; L21"
                     /note="propagated from UniProtKB/Swiss-Prot (P46778.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      541..546
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL21"
                     /gene_synonym="eL21; HYPT12; L21"
                     /note="hexamer: AATAAA"
     polyA_site      566
                     /gene="RPL21"
                     /gene_synonym="eL21; HYPT12; L21"
                     /note="major polyA site"
ORIGIN
        1 cctttcggcc ggaaccgcca tcttccagta attcgccaaa atgacgaaca caaagggaaa
       61 gaggagaggc acccgatata tgttctctag gccttttaga aaacatggag ttgttccttt
      121 ggccacatat atgcgaatct ataagaaagg tgatattgta gacatcaagg gaatgggtac
      181 tgttcaaaaa ggaatgcccc acaagtgtta ccatggcaaa actggaagag tctacaatgt
      241 tacccagcat gctgttggca ttgttgtaaa caaacaagtt aagggcaaga ttcttgccaa
      301 gagaattaat gtgcgtattg agcacattaa gcactctaag agccgagata gcttcctgaa
      361 acgtgtgaag gaaaatgatc agaaaaagaa agaagccaaa gagaaaggta cctgggttca
      421 actaaagcgc cagcctgctc cacccagaga agcacacttt gtgagaacca atgggaagga
      481 gcctgagctg ctggaaccta ttccctatga attcatggca taataggtgt taaaaaaaaa
      541 aataaaggac ctctgggcta caaaaa
//
LOCUS       NM_000983               2061 bp    mRNA    linear   PRI 14-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L22 (RPL22), mRNA.
ACCESSION   NM_000983
VERSION     NM_000983.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2061)
  AUTHORS   Cheng J, Sha Z, Zhang R, Ge J, Chen P, Kuang X, Chang J, Ren K, Luo
            X, Chen S and Gou X.
  TITLE     L22 ribosomal protein is involved in dynamin-related protein
            1-mediated gastric carcinoma progression
  JOURNAL   Bioengineered 13 (3), 6650-6664 (2022)
   PUBMED   35230214
  REMARK    GeneRIF: L22 ribosomal protein is involved in dynamin-related
            protein 1-mediated gastric carcinoma progression.
REFERENCE   2  (bases 1 to 2061)
  AUTHORS   Zeng J, Zhang Y, Zhang H, Zhang Y, Gao L, Tong X, Xie Y, Hu Q, Chen
            C, Ding S and Lu J.
  TITLE     RPL22 Overexpression Promotes Psoriasis-Like Lesion by Inducing
            Keratinocytes Abnormal Biological Behavior
  JOURNAL   Front Immunol 12, 699900 (2021)
   PUBMED   34220863
  REMARK    GeneRIF: RPL22 Overexpression Promotes Psoriasis-Like Lesion by
            Inducing Keratinocytes Abnormal Biological Behavior. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 2061)
  AUTHORS   Das AS, Basu A, Kumar R, Borah PK, Bakshi S, Sharma M, Duary RK, Ray
            PS and Mukhopadhyay R.
  TITLE     Post-transcriptional regulation of C-C motif chemokine ligand 2
            expression by ribosomal protein L22 during LPS-mediated inflammation
  JOURNAL   FEBS J 287 (17), 3794-3813 (2020)
   PUBMED   32383535
  REMARK    GeneRIF: Post-transcriptional regulation of C-C motif chemokine
            ligand 2 expression by ribosomal protein L22 during LPS-mediated
            inflammation.
REFERENCE   4  (bases 1 to 2061)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 2061)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2061)
  AUTHORS   Shu-Nu C, Lin CH and Lin A.
  TITLE     An acidic amino acid cluster regulates the nucleolar localization
            and ribosome assembly of human ribosomal protein L22
  JOURNAL   FEBS Lett 484 (1), 22-28 (2000)
   PUBMED   11056215
REFERENCE   7  (bases 1 to 2061)
  AUTHORS   Le S, Sternglanz R and Greider CW.
  TITLE     Identification of two RNA-binding proteins associated with human
            telomerase RNA
  JOURNAL   Mol Biol Cell 11 (3), 999-1010 (2000)
   PUBMED   10712515
REFERENCE   8  (bases 1 to 2061)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 2061)
  AUTHORS   Fujita Y, Okamoto T, Noshiro M, McKeehan WL, Crabb JW, Whitney RG,
            Kato Y, Sato JD and Takada K.
  TITLE     A novel heparin-binding protein, HBp15, is identified as mammalian
            ribosomal protein L22
  JOURNAL   Biochem Biophys Res Commun 199 (2), 706-713 (1994)
   PUBMED   8135813
REFERENCE   10  (bases 1 to 2061)
  AUTHORS   Toczyski DP and Steitz JA.
  TITLE     EAP, a highly conserved cellular protein associated with
            Epstein-Barr virus small RNAs (EBERs)
  JOURNAL   EMBO J 10 (2), 459-466 (1991)
   PUBMED   1846807
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.436838.1,
            SRR3476690.1039763.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000234875.9/ ENSP00000346088.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from CA336134.1, AK097075.1 and AF113701.1.
            On Nov 23, 2018 this sequence version replaced NM_000983.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a cytoplasmic
            ribosomal protein that is a component of the 60S subunit. The
            protein belongs to the L22E family of ribosomal proteins. Its
            initiating methionine residue is post-translationally removed. The
            protein can bind specifically to Epstein-Barr virus-encoded RNAs
            (EBERs) 1 and 2. The mouse protein has been shown to be capable of
            binding to heparin. Transcript variants utilizing alternative polyA
            signals exist. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. It was previously thought that this gene mapped
            to 3q26 and that it was fused to the acute myeloid leukemia 1
            (AML1) gene located at 21q22 in some therapy-related
            myelodysplastic syndrome patients with 3;21 translocations;
            however, these fusions actually involve a ribosomal protein L22
            pseudogene located at 3q26, and this gene actually maps to
            1p36.3-p36.2. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2061
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.31"
     gene            1..2061
                     /gene="RPL22"
                     /gene_synonym="EAP; eL22; HBP15; HBP15/L22; L22"
                     /note="ribosomal protein L22"
                     /db_xref="GeneID:6146"
                     /db_xref="HGNC:HGNC:10315"
                     /db_xref="MIM:180474"
     CDS             23..409
                     /gene="RPL22"
                     /gene_synonym="EAP; eL22; HBP15; HBP15/L22; L22"
                     /EC_number="2.1.1.100"
                     /note="60S ribosomal protein L22; Epstein-Barr-encoded
                     RNA-associated protein; Epstein-Barr virus small
                     RNA-associated protein; EBER-associated protein;
                     heparin-binding protein 15; heparin-binding protein HBp15"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL22"
                     /protein_id="NP_000974.1"
                     /db_xref="CCDS:CCDS58.1"
                     /db_xref="GeneID:6146"
                     /db_xref="HGNC:HGNC:10315"
                     /db_xref="MIM:180474"
                     /translation="MAPVKKLVVKGGKKKKQVLKFTLDCTHPVEDGIMDAANFEQFLQE
                     RIKVNGKAGNLGGGVVTIERSKSKITVTSEVPFSKRYLKYLTKKYLKKNNLRDWLRVVA
                     NSKESYELRYFQINQDEEEEEDED"
     misc_feature    206..208
                     /gene="RPL22"
                     /gene_synonym="EAP; eL22; HBP15; HBP15/L22; L22"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P67984; propagated from
                     UniProtKB/Swiss-Prot (P35268.2); phosphorylation site"
     misc_feature    218..220
                     /gene="RPL22"
                     /gene_synonym="EAP; eL22; HBP15; HBP15/L22; L22"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P35268.2); phosphorylation site"
     regulatory      840..845
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL22"
                     /gene_synonym="EAP; eL22; HBP15; HBP15/L22; L22"
                     /note="hexamer: AATAAA"
     polyA_site      863
                     /gene="RPL22"
                     /gene_synonym="EAP; eL22; HBP15; HBP15/L22; L22"
                     /note="major polyA site"
     regulatory      2027..2032
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL22"
                     /gene_synonym="EAP; eL22; HBP15; HBP15/L22; L22"
                     /note="hexamer: ATTAAA"
     polyA_site      2061
                     /gene="RPL22"
                     /gene_synonym="EAP; eL22; HBP15; HBP15/L22; L22"
ORIGIN
        1 cctttctaac tccgctgccg ccatggctcc tgtgaaaaag cttgtggtga aggggggcaa
       61 aaaaaagaag caagttctga agttcactct tgattgcacc caccctgtag aagatggaat
      121 catggatgct gccaattttg agcagttttt gcaagaaagg atcaaagtga acggaaaagc
      181 tgggaacctt ggtggagggg tggtgaccat cgaaaggagc aagagcaaga tcaccgtgac
      241 atccgaggtg cctttctcca aaaggtattt gaaatatctc accaaaaaat atttgaagaa
      301 gaataatcta cgtgactggt tgcgcgtagt tgctaacagc aaagagagtt acgaattacg
      361 ttacttccag attaaccagg acgaagaaga ggaggaagac gaggattaaa tttcatttat
      421 ctggaaaatt ttgtatgagt tcttgaataa aacttgggaa ccaaaatggt ggtttatcct
      481 tgtatctctg cagtgtggat tgaacagaaa attggaaatc atagtcaaag ggcttccctt
      541 ggttcgccac tcatttattt gtaacttgac ttcttttttt ttctgcttaa aaatttcaat
      601 tctcgtggta ataccagagt agaaggagag ggtgacttta ccgaactgac agccattggg
      661 gaggcagatg cgggtgtgga ggtgtgggct gaaggtagtg actgtttgat tttaaaaagt
      721 gtgactgtca gttgtatctg ttgcttttct caatgattca gggatacaaa tgggcttctc
      781 tcattcatta aaagaaaacg cgacatcttt ctaagattct ctgtgggaaa atgactgtca
      841 ataaaatgcg ggtttctggg ccattcgtct tactttcatt ttttgattac aaatttctct
      901 tgacgcacac aattatgtct gctaatcctc ttcttcctag agagagaaac tgtgctcctt
      961 cagtgttgct gccataaagg ggtttgggga atcgattgta aaagtcccag gttctaaatt
     1021 aactaaatgt gtacagaaat gaacgtgtaa gtaatgtttc tacaggtctt tgcaacaaac
     1081 tgtcactttc gtctccagca gagggagctg taggaatagt gcttccagat gtggtctccc
     1141 gtgtggggcc cagcaatggg ggcccctgat gccaagagct ctggaggttc ttgaaagagg
     1201 ggacacgaag gaggagtgac tgggaagcct cccatgccaa ggaggtggga ggtgccctgg
     1261 aaatagctgc ctcatgccac ttaggccatg actggattta atgtcagtgg tgtgccacag
     1321 tgcagaggct agacaactga aaggggctac caaggctggg aaaaaaatgc aattgttgct
     1381 gtgagtgact ttgaaagact ctggtgcctt gtggtgccct tctgaaattc aaacagtaat
     1441 gcaaaagtgt ctgcattaga atttacggtg tctaaaattc atgtttttaa aagagcttgc
     1501 ctacagatgg tttccacact tgaaattgtg ccctgcgagt tgcatagctg gaagttcaat
     1561 gctcagtcct accttggctc ccattaaaca tttggtgctc tgtggattga gttgaacgtg
     1621 ttgaggcttt gcaatttcac ttgtgttaaa ggctctggca tttttccatt tctatgcaaa
     1681 tttctttgaa gcagaattgc ttgcatattt cttctctgcc gtcacagaaa gcagagtttc
     1741 tttcaaactt cactgaggca tcagttgctc tttggcaatg tcccttaacc atgattatta
     1801 actaagtttg tggcttgagt ttacaaattc tacttgttgc attgatgttc ccatgtagta
     1861 agtcattttt agtttggttg tgaaaaaacc ctgggctgaa gttggcattt cagttaaaag
     1921 aaaaaaagaa actagtccca gatttgaaaa cttgtaataa aattgaaact cactggtttt
     1981 ctatgtcttt ttgaactctt gtaatcgagt tttgatcata ttttctatta aagtggctaa
     2041 cacctggcta ctcttactgt a
//
LOCUS       NM_000984                970 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L23a (RPL23A), mRNA.
ACCESSION   NM_000984
VERSION     NM_000984.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 970)
  AUTHORS   Zhang Z, Wu Q, Fang M, Liu Y, Jiang J, Feng Q, Hu R and Xu J.
  TITLE     HERC3 directly targets RPL23A for ubiquitination degradation and
            further regulates Colorectal Cancer proliferation and the cell cycle
  JOURNAL   Int J Biol Sci 18 (8), 3282-3297 (2022)
   PUBMED   35637966
  REMARK    GeneRIF: HERC3 directly targets RPL23A for ubiquitination
            degradation and further regulates Colorectal Cancer proliferation
            and the cell cycle. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 970)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 970)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   4  (bases 1 to 970)
  AUTHORS   Guo Z, Neilson LJ, Zhong H, Murray PS, Zanivan S and Zaidel-Bar R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 970)
  AUTHORS   Jefferson M, Donaszi-Ivanov A, Pollen S, Dalmay T, Saalbach G and
            Powell PP.
  TITLE     Host factors that interact with the pestivirus N-terminal protease,
            Npro, are components of the ribonucleoprotein complex
  JOURNAL   J Virol 88 (18), 10340-10353 (2014)
   PUBMED   24965446
REFERENCE   6  (bases 1 to 970)
  AUTHORS   Jakel S and Gorlich D.
  TITLE     Importin beta, transportin, RanBP5 and RanBP7 mediate nuclear import
            of ribosomal proteins in mammalian cells
  JOURNAL   EMBO J 17 (15), 4491-4502 (1998)
   PUBMED   9687515
REFERENCE   7  (bases 1 to 970)
  AUTHORS   Fan W, Christensen M, Eichler E, Zhang X and Lennon G.
  TITLE     Cloning, sequencing, gene organization, and localization of the
            human ribosomal protein RPL23A gene
  JOURNAL   Genomics 46 (2), 234-239 (1997)
   PUBMED   9417910
REFERENCE   8  (bases 1 to 970)
  AUTHORS   Jiang H, Lin JJ, Tao J and Fisher PB.
  TITLE     Suppression of human ribosomal protein L23A expression during cell
            growth inhibition by interferon-beta
  JOURNAL   Oncogene 14 (4), 473-480 (1997)
   PUBMED   9053844
REFERENCE   9  (bases 1 to 970)
  AUTHORS   Fan W, Cai W, Parimoo S, Schwarz DC, Lennon GG and Weissman SM.
  TITLE     Identification of seven new human MHC class I region genes around
            the HLA-F locus
  JOURNAL   Immunogenetics 44 (2), 97-103 (1996)
   PUBMED   8662070
  REMARK    Erratum:[Immunogenetics 1997;46(2):169]
REFERENCE   10  (bases 1 to 970)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.26679.1,
            SRR5189661.13134.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000422514.7/ ENSP00000389103.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from U43701.1, BC058041.1, BE464375.1 and AC010761.10.
            On Nov 22, 2018 this sequence version replaced NM_000984.5.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L23P family of ribosomal proteins. It is located in the
            cytoplasm. The protein may be one of the target molecules involved
            in mediating growth inhibition by interferon. In yeast, the
            corresponding protein binds to a specific site on the 26S rRNA.
            This gene is co-transcribed with the U42A, U42B, U101A, and U101B
            small nucleolar RNA genes, which are located in its third, first,
            second, and fourth introns, respectively. As is typical for genes
            encoding ribosomal proteins, there are multiple processed
            pseudogenes of this gene dispersed through the genome. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..970
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..970
                     /gene="RPL23A"
                     /gene_synonym="L23A; MDA20; uL23"
                     /note="ribosomal protein L23a"
                     /db_xref="GeneID:6147"
                     /db_xref="HGNC:HGNC:10317"
                     /db_xref="MIM:602326"
     misc_feature    11
                     /gene="RPL23A"
                     /gene_synonym="L23A; MDA20; uL23"
                     /note="predominant transcription initiation site"
     CDS             22..492
                     /gene="RPL23A"
                     /gene_synonym="L23A; MDA20; uL23"
                     /note="60S ribosomal protein L23a; melanoma
                     differentiation-associated gene 20"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL23"
                     /protein_id="NP_000975.2"
                     /db_xref="CCDS:CCDS11241.1"
                     /db_xref="GeneID:6147"
                     /db_xref="HGNC:HGNC:10317"
                     /db_xref="MIM:602326"
                     /translation="MAPKAKKEAPAPPKAEAKAKALKAKKAVLKGVHSHKKKKIRTSPT
                     FRRPKTLRLRRQPKYPRKSAPRRNKLDHYAIIKFPLTTESAMKKIEDNNTLVFIVDVKA
                     NKHQIKQAVKKLYDIDVAKVNTLIRPDGEKKAYVRLAPDYDALDVANKIGII"
     misc_feature    22..222
                     /gene="RPL23A"
                     /gene_synonym="L23A; MDA20; uL23"
                     /note="propagated from UniProtKB/Swiss-Prot (P62750.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    25..27
                     /gene="RPL23A"
                     /gene_synonym="L23A; MDA20; uL23"
                     /note="N,N,N-trimethylalanine.
                     /evidence=ECO:0000250|UniProtKB:P62751; propagated from
                     UniProtKB/Swiss-Prot (P62750.1); methylation site"
     misc_feature    115..243
                     /gene="RPL23A"
                     /gene_synonym="L23A; MDA20; uL23"
                     /note="propagated from UniProtKB/Swiss-Prot (P62750.1);
                     Region: Beta-like import receptor binding (BIB) domain.
                     /evidence=ECO:0000269|PubMed:9687515"
     misc_feature    148..150
                     /gene="RPL23A"
                     /gene_synonym="L23A; MDA20; uL23"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P62750.1); phosphorylation site"
     misc_feature    154..156
                     /gene="RPL23A"
                     /gene_synonym="L23A; MDA20; uL23"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P62750.1); phosphorylation site"
     misc_feature    229..231
                     /gene="RPL23A"
                     /gene_synonym="L23A; MDA20; uL23"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P62751; propagated from
                     UniProtKB/Swiss-Prot (P62750.1); acetylation site"
     regulatory      517..522
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL23A"
                     /gene_synonym="L23A; MDA20; uL23"
                     /note="hexamer: AATATA"
     polyA_site      549
                     /gene="RPL23A"
                     /gene_synonym="L23A; MDA20; uL23"
                     /note="major polyA site"
     regulatory      943..948
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL23A"
                     /gene_synonym="L23A; MDA20; uL23"
                     /note="hexamer: AATAAA"
     polyA_site      970
                     /gene="RPL23A"
                     /gene_synonym="L23A; MDA20; uL23"
ORIGIN
        1 attggagacc cttttcacaa gatggcgccg aaagcgaaga aggaagctcc tgcccctcct
       61 aaagctgaag ccaaagcgaa ggctttaaag gccaagaagg cagtgttgaa aggtgtccac
      121 agccacaaaa agaagaagat ccgcacgtca cccaccttcc ggcggccgaa gacactgcga
      181 ctccggagac agcccaaata tcctcggaag agcgctccca ggagaaacaa gcttgaccac
      241 tatgctatca tcaagtttcc gctgaccact gagtctgcca tgaagaagat agaagacaac
      301 aacacacttg tgttcattgt ggatgttaaa gccaacaagc accagattaa acaggctgtg
      361 aagaagctgt atgacattga tgtggccaag gtcaacaccc tgattcggcc tgatggagag
      421 aagaaggcat atgttcgact ggctcctgat tacgatgctt tggatgttgc caacaaaatt
      481 gggatcatct aaactgagtc cagctgccta attctgaata tatatatata tatatctttt
      541 caccatatac atgcctgtct gtcaatttct ggttgggctg ggaggccaca cacacacact
      601 gacatgacag ggcttgggca agactcctgt tctacttatc cttttgaaat acctcaccct
      661 gccactccac catgtatgat cattccagag atctttgtga ctagagttag tgtcctagga
      721 aaaccagaac tcagaacttg cctccatggt tgagtaacaa gctgtacaag aacccctttt
      781 atccctggaa gaggctgtgt atgaaaccaa tgcccagggt ttgaagggtg ttagcatcca
      841 tttcagggga gtgtggattg gctggctctc tggtagcatt ttgtcctcac acacccatct
      901 actatgtcca accggtctgt ctgcttccct caccccttgc ccaataaagg acaaggactt
      961 cagaggagta
//
LOCUS       NM_000986                560 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L24 (RPL24), mRNA.
ACCESSION   NM_000986
VERSION     NM_000986.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 560)
  AUTHORS   Challa S, Khulpateea BR, Nandu T, Camacho CV, Ryu KW, Chen H, Peng
            Y, Lea JS and Kraus WL.
  TITLE     Ribosome ADP-ribosylation inhibits translation and maintains
            proteostasis in cancers
  JOURNAL   Cell 184 (17), 4531-4546 (2021)
   PUBMED   34314702
REFERENCE   2  (bases 1 to 560)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 560)
  AUTHORS   Behrmann E, Loerke J, Budkevich TV, Yamamoto K, Schmidt A, Penczek
            PA, Vos MR, Burger J, Mielke T, Scheerer P and Spahn CM.
  TITLE     Structural snapshots of actively translating human ribosomes
  JOURNAL   Cell 161 (4), 845-857 (2015)
   PUBMED   25957688
REFERENCE   4  (bases 1 to 560)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   5  (bases 1 to 560)
  AUTHORS   Guo YL, Kong QS, Liu HS and Tan WB.
  TITLE     Drug resistance effects of ribosomal protein L24 overexpression in
            hepatocellular carcinoma HepG2 cells
  JOURNAL   Asian Pac J Cancer Prev 15 (22), 9853-9857 (2014)
   PUBMED   25520117
  REMARK    GeneRIF: Ribosomal protein L24 overexpression in hepatocellular
            carcinoma.
REFERENCE   6  (bases 1 to 560)
  AUTHORS   Uechi T, Tanaka T and Kenmochi N.
  TITLE     A complete map of the human ribosomal protein genes: assignment of
            80 genes to the cytogenetic map and implications for human disorders
  JOURNAL   Genomics 72 (3), 223-230 (2001)
   PUBMED   11401437
REFERENCE   7  (bases 1 to 560)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   8  (bases 1 to 560)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 560)
  AUTHORS   Cross SH, Charlton JA, Nan X and Bird AP.
  TITLE     Purification of CpG islands using a methylated DNA binding column
  JOURNAL   Nat Genet 6 (3), 236-244 (1994)
   PUBMED   8012384
REFERENCE   10  (bases 1 to 560)
  AUTHORS   Johnson KR.
  TITLE     Characterization of cDNA clones encoding the human homologue of
            Saccharomyces cerevisiae ribosomal protein L30
  JOURNAL   Gene 123 (2), 283-285 (1993)
   PUBMED   8428672
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BM772472.1, BM997631.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000394077.8/ ENSP00000377640.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BU754101.1, M94314.1 and CD513036.1.
            On Nov 22, 2018 this sequence version replaced NM_000986.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L24E family of ribosomal proteins. It is located in the
            cytoplasm. This gene has been referred to as ribosomal protein L30
            because the encoded protein shares amino acid identity with the L30
            ribosomal proteins from S. cerevisiae; however, its official name
            is ribosomal protein L24. As is typical for genes encoding
            ribosomal proteins, there are multiple processed pseudogenes of
            this gene dispersed through the genome. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..560
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q12.3"
     gene            1..560
                     /gene="RPL24"
                     /gene_synonym="eL24; HEL-S-310; L24"
                     /note="ribosomal protein L24"
                     /db_xref="GeneID:6152"
                     /db_xref="HGNC:HGNC:10325"
                     /db_xref="MIM:604180"
     misc_feature    5
                     /gene="RPL24"
                     /gene_synonym="eL24; HEL-S-310; L24"
                     /note="predominant transcription initiation site"
     CDS             43..516
                     /gene="RPL24"
                     /gene_synonym="eL24; HEL-S-310; L24"
                     /note="60S ribosomal protein L24; epididymis secretory
                     protein Li 310; ribosomal protein L30; 60S ribosomal
                     protein L30"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL24"
                     /protein_id="NP_000977.1"
                     /db_xref="CCDS:CCDS33809.1"
                     /db_xref="GeneID:6152"
                     /db_xref="HGNC:HGNC:10325"
                     /db_xref="MIM:604180"
                     /translation="MKVELCSFSGYKIYPGHGRRYARTDGKVFQFLNAKCESAFLSKRN
                     PRQINWTVLYRRKHKKGQSEEIQKKRTRRAVKFQRAITGASLADIMAKRNQKPEVRKAQ
                     REQAIRAAKEAKKAKQASKKTAMAAAKAPTKAAPKQKIVKPVKVSAPRVGGKR"
     misc_feature    121..123
                     /gene="RPL24"
                     /gene_synonym="eL24; HEL-S-310; L24"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P83731.1); acetylation site"
     misc_feature    271..273
                     /gene="RPL24"
                     /gene_synonym="eL24; HEL-S-310; L24"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P83731.1); acetylation site"
     misc_feature    289..291
                     /gene="RPL24"
                     /gene_synonym="eL24; HEL-S-310; L24"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P83731.1); phosphorylation site"
     misc_feature    298..300
                     /gene="RPL24"
                     /gene_synonym="eL24; HEL-S-310; L24"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P83731.1); phosphorylation site"
     misc_feature    319..321
                     /gene="RPL24"
                     /gene_synonym="eL24; HEL-S-310; L24"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P83731.1); acetylation site"
     misc_feature    358..513
                     /gene="RPL24"
                     /gene_synonym="eL24; HEL-S-310; L24"
                     /note="propagated from UniProtKB/Swiss-Prot (P83731.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    487..489
                     /gene="RPL24"
                     /gene_synonym="eL24; HEL-S-310; L24"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P83731.1); phosphorylation site"
     regulatory      537..542
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL24"
                     /gene_synonym="eL24; HEL-S-310; L24"
                     /note="hexamer: AATAAA"
     polyA_site      560
                     /gene="RPL24"
                     /gene_synonym="eL24; HEL-S-310; L24"
                     /note="major polyA site"
ORIGIN
        1 ctttcttttc gccatctttt gtctttccgt ggagctgtcg ccatgaaggt cgagctgtgc
       61 agttttagcg ggtacaagat ctaccccgga cacgggaggc gctacgccag gaccgacggg
      121 aaggttttcc agtttcttaa tgcgaaatgc gagtcggctt tcctttccaa gaggaatcct
      181 cggcagataa actggactgt cctctacaga aggaagcaca aaaagggaca gtcggaagaa
      241 attcaaaaga aaagaacccg ccgagcagtc aaattccaga gggccattac tggtgcatct
      301 cttgctgata taatggccaa gaggaatcag aaacctgaag ttagaaaggc tcaacgagaa
      361 caagctatca gggctgctaa ggaagcaaaa aaggctaagc aagcatctaa aaagactgca
      421 atggctgctg ctaaggcacc tacaaaggca gcacctaagc aaaagattgt gaagcctgtg
      481 aaagtttcag ctccccgagt tggtggaaaa cgctaaactg gcagattaga tttttaaata
      541 aagattggat tataactcta
//
LOCUS       NM_000987                528 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L26 (RPL26), transcript variant 2,
            mRNA.
ACCESSION   NM_000987
VERSION     NM_000987.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 528)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 528)
  AUTHORS   Chen J, Crutchley J, Zhang D, Owzar K and Kastan MB.
  TITLE     Identification of a DNA Damage-Induced Alternative Splicing Pathway
            That Regulates p53 and Cellular Senescence Markers
  JOURNAL   Cancer Discov 7 (7), 766-781 (2017)
   PUBMED   28288992
  REMARK    GeneRIF: ionizing radiation (IR) inhibits the activity of SMG1, a
            phosphoinositide-3-kinase-like kinase family member, reducing the
            binding of SMG1 to a specific region near exon 9 of p53 precursor
            mRNA and promoting the binding of ribosomal protein L26 (RPL26) to
            p53 pre-mRNA
REFERENCE   3  (bases 1 to 528)
  AUTHORS   Zhang M, Zhang J, Yan W and Chen X.
  TITLE     p73 expression is regulated by ribosomal protein RPL26 through mRNA
            translation and protein stability
  JOURNAL   Oncotarget 7 (48), 78255-78268 (2016)
   PUBMED   27825141
  REMARK    GeneRIF: In colorectal tumor cells RPL26 regulates p73 expression
            via two distinct mechanisms: protein stability and mRNA translation.
REFERENCE   4  (bases 1 to 528)
  AUTHORS   Sung MK, Porras-Yakushi TR, Reitsma JM, Huber FM, Sweredoski MJ,
            Hoelz A, Hess S and Deshaies RJ.
  TITLE     A conserved quality-control pathway that mediates degradation of
            unassembled ribosomal proteins
  JOURNAL   Elife 5, e19105 (2016)
   PUBMED   27552055
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 528)
  AUTHORS   Towers CG and Ford HL.
  TITLE     A tale of two ends
  JOURNAL   Cell Cycle 15 (12), 1523-1524 (2016)
   PUBMED   27101085
REFERENCE   6  (bases 1 to 528)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   7  (bases 1 to 528)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   8  (bases 1 to 528)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   9  (bases 1 to 528)
  AUTHORS   Zaman GJ.
  TITLE     Sequence of a cDNA encoding human ribosomal protein L26 and of a
            cDNA probably encoding human ribosomal protein L6
  JOURNAL   Nucleic Acids Res 21 (7), 1673 (1993)
   PUBMED   8479925
REFERENCE   10  (bases 1 to 528)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301769
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CB121782.1, BU600257.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000648839.1/ ENSP00000498177.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AK311804.1, BC071664.1 and BM928617.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 8, 2018 this sequence version replaced NM_000987.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L24P family of ribosomal proteins. It is located in the
            cytoplasm. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. Mutations in this gene result in
            Diamond-Blackfan anemia. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Oct 2015].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..528
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..528
                     /gene="RPL26"
                     /gene_synonym="DBA11; L26; uL24"
                     /note="ribosomal protein L26"
                     /db_xref="GeneID:6154"
                     /db_xref="HGNC:HGNC:10327"
                     /db_xref="MIM:603704"
     CDS             43..480
                     /gene="RPL26"
                     /gene_synonym="DBA11; L26; uL24"
                     /note="60S ribosomal protein L26"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL24"
                     /protein_id="NP_000978.1"
                     /db_xref="CCDS:CCDS11142.1"
                     /db_xref="GeneID:6154"
                     /db_xref="HGNC:HGNC:10327"
                     /db_xref="MIM:603704"
                     /translation="MKFNPFVTSDRSKNRKRHFNAPSHIRRKIMSSPLSKELRQKYNVR
                     SMPIRKDDEVQVVRGHYKGQQIGKVVQVYRKKYVIYIERVQREKANGTTVHVGIHPSKV
                     VITRLKLDKDRKKILERKAKSRQVGKEKGKYKEETIEKMQE"
     misc_feature    43..105
                     /gene="RPL26"
                     /gene_synonym="DBA11; L26; uL24"
                     /note="propagated from UniProtKB/Swiss-Prot (P61254.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    406..477
                     /gene="RPL26"
                     /gene_synonym="DBA11; L26; uL24"
                     /note="propagated from UniProtKB/Swiss-Prot (P61254.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    457..459
                     /gene="RPL26"
                     /gene_synonym="DBA11; L26; uL24"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P61254.1); phosphorylation site"
     regulatory      504..509
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL26"
                     /gene_synonym="DBA11; L26; uL24"
                     /note="hexamer: ATTAAA"
     polyA_site      523
                     /gene="RPL26"
                     /gene_synonym="DBA11; L26; uL24"
                     /note="major polyA site"
ORIGIN
        1 ctcttccctt ttgcggccat caccgaagcg ggagcggcca aaatgaagtt taatcccttt
       61 gtgacttccg accgaagcaa gaatcgcaaa aggcatttca atgcaccttc ccacattcga
      121 aggaagatta tgtcttcccc tctttccaaa gagctgagac agaagtacaa cgtgcgatcc
      181 atgcccatcc gaaaggatga tgaagttcag gttgtacgtg gacactataa aggtcagcaa
      241 attggcaaag tagtccaggt ttacaggaag aaatatgtta tctacattga acgggtgcag
      301 cgggaaaagg ctaatggcac aactgtccac gtaggcattc accccagcaa ggtggttatc
      361 actaggctaa aactggacaa agaccgcaaa aagatcctcg aacggaaagc caaatctcgc
      421 caagtaggaa aggaaaaggg caaatacaag gaagaaacca ttgagaagat gcaggaataa
      481 agtaatctta tatacaagct ttgattaaaa cttgaaacaa agagcctg
//
LOCUS       NM_000988                505 bp    mRNA    linear   PRI 14-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L27 (RPL27), transcript variant 1,
            mRNA.
ACCESSION   NM_000988
VERSION     NM_000988.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 505)
  AUTHORS   Park SY, Seo D, Jeon EH, Park JY, Jang BC, Kim JI, Im SS, Lee JH,
            Kim S, Cho CH and Lee YH.
  TITLE     RPL27 contributes to colorectal cancer proliferation and stemness
            via PLK1 signaling
  JOURNAL   Int J Oncol 63 (2) (2023)
   PUBMED   37387446
  REMARK    GeneRIF: RPL27 contributes to colorectal cancer proliferation and
            stemness via PLK1 signaling.
REFERENCE   2  (bases 1 to 505)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 505)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 505)
  AUTHORS   Zhang Y, You J, Wang X and Weber J.
  TITLE     The DHX33 RNA Helicase Promotes mRNA Translation Initiation
  JOURNAL   Mol Cell Biol 35 (17), 2918-2931 (2015)
   PUBMED   26100019
REFERENCE   5  (bases 1 to 505)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   6  (bases 1 to 505)
  AUTHORS   Harshman K, Bell R, Rosenthal J, Katcher H, Miki Y, Swenson J,
            Gholami Z, Frye C, Ding W, Dayananth P et al.
  TITLE     Comparison of the positional cloning methods used to isolate the
            BRCA1 gene
  JOURNAL   Hum Mol Genet 4 (8), 1259-1266 (1995)
   PUBMED   7581362
REFERENCE   7  (bases 1 to 505)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   8  (bases 1 to 505)
  AUTHORS   Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K,
            Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al.
  TITLE     A strong candidate for the breast and ovarian cancer susceptibility
            gene BRCA1
  JOURNAL   Science 266 (5182), 66-71 (1994)
   PUBMED   7545954
REFERENCE   9  (bases 1 to 505)
  AUTHORS   Gallagher RA, McClean PM and Malik AN.
  TITLE     Cloning and nucleotide sequence of a full length cDNA encoding
            ribosomal protein L27 from human fetal kidney
  JOURNAL   Biochim Biophys Acta 1217 (3), 329-332 (1994)
   PUBMED   8148381
REFERENCE   10  (bases 1 to 505)
  AUTHORS   Jones KW, Chevrette M, Shapero MH and Fournier RE.
  TITLE     Generation of region- and species-specific expressed gene probes
            from somatic cell hybrids
  JOURNAL   Nat Genet 1 (4), 278-283 (1992)
   PUBMED   1302024
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BG618850.1, SRR1163657.220571.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000253788.12/ ENSP00000253788.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AC055866.19.
            This sequence is a reference standard in the RefSeqGene project.
            On May 8, 2018 this sequence version replaced NM_000988.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of four RNA species and approximately
            80 structurally distinct proteins. This gene encodes a member of
            the L27e family of ribosomal proteins and a component of the 60S
            subunit. A splice site mutation in this gene has been identified in
            a Diamond-Blackfan anemia (DBA) patient. As is typical for genes
            encoding ribosomal proteins, there are multiple processed
            pseudogenes of this gene dispersed through the genome. [provided by
            RefSeq, Mar 2017].
            Transcript Variant: This variant (1) encodes the protein. Variants
            1-3 encode the same protein.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..505
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..505
                     /gene="RPL27"
                     /gene_synonym="DBA16; eL27; L27"
                     /note="ribosomal protein L27"
                     /db_xref="GeneID:6155"
                     /db_xref="HGNC:HGNC:10328"
                     /db_xref="MIM:607526"
     misc_feature    32..34
                     /gene="RPL27"
                     /gene_synonym="DBA16; eL27; L27"
                     /note="upstream in-frame stop codon"
     CDS             56..466
                     /gene="RPL27"
                     /gene_synonym="DBA16; eL27; L27"
                     /EC_number="3.6.5.3"
                     /note="60S ribosomal protein L27"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL27"
                     /protein_id="NP_000979.1"
                     /db_xref="CCDS:CCDS11449.1"
                     /db_xref="GeneID:6155"
                     /db_xref="HGNC:HGNC:10328"
                     /db_xref="MIM:607526"
                     /translation="MGKFMKPGKVVLVLAGRYSGRKAVIVKNIDDGTSDRPYSHALVAG
                     IDRYPRKVTAAMGKKKIAKRSKIKSFVKVYNYNHLMPTRYSVDIPLDKTVVNKDVFRDP
                     ALKRKARREAKVKFEERYKTGKNKWFFQKLRF"
     misc_feature    134..136
                     /gene="RPL27"
                     /gene_synonym="DBA16; eL27; L27"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P61353.2); acetylation site"
     misc_feature    332..334
                     /gene="RPL27"
                     /gene_synonym="DBA16; eL27; L27"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P61353.2); acetylation site"
     regulatory      483..488
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL27"
                     /gene_synonym="DBA16; eL27; L27"
                     /note="hexamer: ATTAAA"
     polyA_site      505
                     /gene="RPL27"
                     /gene_synonym="DBA16; eL27; L27"
                     /note="major polyA site"
ORIGIN
        1 agcggaagtg tccttctttc ctttttgctg gtagggccgg gtggttgctg ccgaaatggg
       61 caagttcatg aaacctggga aggtggtgct tgtcctggct ggacgctact ccggacgcaa
      121 agctgtcatc gtgaagaaca ttgatgatgg cacctcagat cgcccctaca gccatgctct
      181 ggtggctgga attgaccgct acccccgcaa agtgacagct gccatgggca agaagaagat
      241 cgccaagaga tcaaagataa aatcttttgt gaaagtgtat aactacaatc acctaatgcc
      301 cacaaggtac tctgtggata tccccttgga caaaactgtc gtcaataagg atgtcttcag
      361 agatcctgct cttaaacgca aggcccgacg ggaggccaag gtcaagtttg aagagagata
      421 caagacaggc aagaacaagt ggttcttcca gaaactgcgg ttttagatgc tttgttttga
      481 tcattaaaaa ttataaagaa aaaaa
//
LOCUS       NM_000989                498 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L30 (RPL30), mRNA.
ACCESSION   NM_000989
VERSION     NM_000989.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 498)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 498)
  AUTHORS   Lee JH, Han JH, Kim H, Park SM, Joe EH and Jou I.
  TITLE     Parkinson's disease-associated LRRK2-G2019S mutant acts through
            regulation of SERCA activity to control ER stress in astrocytes
  JOURNAL   Acta Neuropathol Commun 7 (1), 68 (2019)
   PUBMED   31046837
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 498)
  AUTHORS   Behrmann E, Loerke J, Budkevich TV, Yamamoto K, Schmidt A, Penczek
            PA, Vos MR, Burger J, Mielke T, Scheerer P and Spahn CM.
  TITLE     Structural snapshots of actively translating human ribosomes
  JOURNAL   Cell 161 (4), 845-857 (2015)
   PUBMED   25957688
REFERENCE   4  (bases 1 to 498)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   5  (bases 1 to 498)
  AUTHORS   Martin I, Kim JW, Lee BD, Kang HC, Xu JC, Jia H, Stankowski J, Kim
            MS, Zhong J, Kumar M, Andrabi SA, Xiong Y, Dickson DW, Wszolek ZK,
            Pandey A, Dawson TM and Dawson VL.
  TITLE     Ribosomal protein s15 phosphorylation mediates LRRK2
            neurodegeneration in Parkinson's disease
  JOURNAL   Cell 157 (2), 472-485 (2014)
   PUBMED   24725412
REFERENCE   6  (bases 1 to 498)
  AUTHORS   Odintsova TI, Muller EC, Ivanov AV, Egorov TA, Bienert R, Vladimirov
            SN, Kostka S, Otto A, Wittmann-Liebold B and Karpova GG.
  TITLE     Characterization and analysis of posttranslational modifications of
            the human large cytoplasmic ribosomal subunit proteins by mass
            spectrometry and Edman sequencing
  JOURNAL   J Protein Chem 22 (3), 249-258 (2003)
   PUBMED   12962325
REFERENCE   7  (bases 1 to 498)
  AUTHORS   Yoshihama M, Uechi T, Asakawa S, Kawasaki K, Kato S, Higa S, Maeda
            N, Minoshima S, Tanaka T, Shimizu N and Kenmochi N.
  TITLE     The human ribosomal protein genes: sequencing and comparative
            analysis of 73 genes
  JOURNAL   Genome Res 12 (3), 379-390 (2002)
   PUBMED   11875025
REFERENCE   8  (bases 1 to 498)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   9  (bases 1 to 498)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   10  (bases 1 to 498)
  AUTHORS   Feo S, Davies B and Fried M.
  TITLE     The mapping of seven intron-containing ribosomal protein genes shows
            they are unlinked in the human genome
  JOURNAL   Genomics 13 (1), 201-207 (1992)
   PUBMED   1577483
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AV761808.1, BE439872.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000287038.8/ ENSP00000287038.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BM785413.1 and BC095426.1.
            On Nov 23, 2018 this sequence version replaced NM_000989.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L30E family of ribosomal proteins. It is located in the
            cytoplasm. This gene is co-transcribed with the U72 small nucleolar
            RNA gene, which is located in its fourth intron. As is typical for
            genes encoding ribosomal proteins, there are multiple processed
            pseudogenes of this gene dispersed through the genome. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..498
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.2"
     gene            1..498
                     /gene="RPL30"
                     /gene_synonym="eL30; L30"
                     /note="ribosomal protein L30"
                     /db_xref="GeneID:6156"
                     /db_xref="HGNC:HGNC:10333"
                     /db_xref="MIM:180467"
     misc_feature    1
                     /gene="RPL30"
                     /gene_synonym="eL30; L30"
                     /note="predominant transcription initiation site"
     misc_feature    59..61
                     /gene="RPL30"
                     /gene_synonym="eL30; L30"
                     /note="upstream in-frame stop codon"
     CDS             71..418
                     /gene="RPL30"
                     /gene_synonym="eL30; L30"
                     /note="60S ribosomal protein L30"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL30"
                     /protein_id="NP_000980.1"
                     /db_xref="CCDS:CCDS34928.1"
                     /db_xref="GeneID:6156"
                     /db_xref="HGNC:HGNC:10333"
                     /db_xref="MIM:180467"
                     /translation="MVAAKKTKKSLESINSRLQLVMKSGKYVLGYKQTLKMIRQGKAKL
                     VILANNCPALRKSEIEYYAMLAKTGVHHYSGNNIELGTACGKYYRVCTLAIIDPGDSDI
                     IRSMPEQTGEK"
     misc_feature    98..100
                     /gene="RPL30"
                     /gene_synonym="eL30; L30"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P62888.2); phosphorylation site"
     misc_feature    116..118
                     /gene="RPL30"
                     /gene_synonym="eL30; L30"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P62888.2); phosphorylation site"
     misc_feature    146..148
                     /gene="RPL30"
                     /gene_synonym="eL30; L30"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62888.2); acetylation site"
     regulatory      475..480
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL30"
                     /gene_synonym="eL30; L30"
                     /note="hexamer: AATAAA"
     polyA_site      498
                     /gene="RPL30"
                     /gene_synonym="eL30; L30"
                     /note="major polyA site"
ORIGIN
        1 cctttctcgt tccccggcca tcttagcggc tgctgttggt tgggggccgt cccgctccta
       61 aggcaggaag atggtggccg caaagaagac gaaaaagtcg ctggagtcga tcaactctag
      121 gctccaactc gttatgaaaa gtgggaagta cgtcctgggg tacaagcaga ctctgaagat
      181 gatcagacaa ggcaaagcga aattggtcat tctcgctaac aactgcccag ctttgaggaa
      241 atctgaaata gagtactatg ctatgttggc taaaactggt gtccatcact acagtggcaa
      301 taatattgaa ctgggcacag catgcggaaa atactacaga gtgtgcacac tggctatcat
      361 tgatccaggt gactctgaca tcattagaag catgccagaa cagactggtg aaaagtaaac
      421 cttttcacct acaaaatttc acctgcaaac cttaaacctg caaaattttc ctttaataaa
      481 atttgcttgt tttaaaaa
//
LOCUS       NM_000990               4535 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L27a (RPL27A), mRNA.
ACCESSION   NM_000990
VERSION     NM_000990.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4535)
  AUTHORS   Xing H, Jiang X, Yang C, Tan B, Hu J and Zhang M.
  TITLE     High expression of RPL27A predicts poor prognosis in patients with
            hepatocellular carcinoma
  JOURNAL   World J Surg Oncol 21 (1), 209 (2023)
   PUBMED   37474947
  REMARK    GeneRIF: High expression of RPL27A predicts poor prognosis in
            patients with hepatocellular carcinoma. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 4535)
  AUTHORS   Zhang Z, Liu Z, Zhao W, Zhao X and Tao Y.
  TITLE     tRF-19-W4PU732S promotes breast cancer cell malignant activity by
            targeting inhibition of RPL27A (ribosomal protein-L27A)
  JOURNAL   Bioengineered 13 (2), 2087-2098 (2022)
   PUBMED   35030975
  REMARK    GeneRIF: tRF-19-W4PU732S promotes breast cancer cell malignant
            activity by targeting inhibition of RPL27A (ribosomal protein-L27A).
REFERENCE   3  (bases 1 to 4535)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4535)
  AUTHORS   Fasci D, van Ingen H, Scheltema RA and Heck AJR.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   5  (bases 1 to 4535)
  AUTHORS   Alkhatabi HA, McLornan DP, Kulasekararaj AG, Malik F, Seidl T,
            Darling D, Gaken J and Mufti GJ.
  TITLE     RPL27A is a target of miR-595 and may contribute to the
            myelodysplastic phenotype through ribosomal dysgenesis
  JOURNAL   Oncotarget 7 (30), 47875-47890 (2016)
   PUBMED   27374104
  REMARK    GeneRIF: RPL27A overexpression, despite showing no significant
            effects on p53 mRNA levels, did in fact enhance cellular
            proliferation. In normal CD34+ cells, RPL27A knockdown
            preferentially blocked erythroid proliferation and differentiation.
REFERENCE   6  (bases 1 to 4535)
  AUTHORS   Bortoluzzi S, d'Alessi F, Romualdi C and Danieli GA.
  TITLE     Differential expression of genes coding for ribosomal proteins in
            different human tissues
  JOURNAL   Bioinformatics 17 (12), 1152-1157 (2001)
   PUBMED   11751223
REFERENCE   7  (bases 1 to 4535)
  AUTHORS   Kusuda J, Hirai M, Tanuma R, Hirata M and Hashimoto K.
  TITLE     Genomic structure and chromosome location of RPL27A/Rpl27a, the
            genes encoding human and mouse ribosomal protein L27A
  JOURNAL   Cytogenet Cell Genet 85 (3-4), 248-251 (1999)
   PUBMED   10449908
REFERENCE   8  (bases 1 to 4535)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   9  (bases 1 to 4535)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   10  (bases 1 to 4535)
  AUTHORS   Frigerio JM, Dagorn JC and Iovanna JL.
  TITLE     Cloning, sequencing and expression of the L5, L21, L27a, L28, S5,
            S9, S10 and S29 human ribosomal protein mRNAs
  JOURNAL   Biochim Biophys Acta 1262 (1), 64-68 (1995)
   PUBMED   7772601
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.73358.1,
            SRR1803611.60005.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000314138.11/ ENSP00000346015.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AI809856.1, BC020169.1, AC091053.11 and BC004284.1.
            On Nov 22, 2018 this sequence version replaced NM_000990.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L15P family of ribosomal proteins. It is located in the
            cytoplasm. Variable expression of this gene in colorectal cancers
            compared to adjacent normal tissues has been observed, although no
            correlation between the level of expression and the severity of the
            disease has been found. As is typical for genes encoding ribosomal
            proteins, multiple processed pseudogenes derived from this gene are
            dispersed through the genome. [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4535
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..4535
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
                     /note="ribosomal protein L27a"
                     /db_xref="GeneID:6157"
                     /db_xref="HGNC:HGNC:10329"
                     /db_xref="MIM:603637"
     CDS             23..469
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
                     /EC_number="3.6.5.3"
                     /note="60S ribosomal protein L27a"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL15"
                     /protein_id="NP_000981.1"
                     /db_xref="CCDS:CCDS7790.1"
                     /db_xref="GeneID:6157"
                     /db_xref="HGNC:HGNC:10329"
                     /db_xref="MIM:603637"
                     /translation="MPSRLRKTRKLRGHVSHGHGRIGKHRKHPGGRGNAGGLHHHRINF
                     DKYHPGYFGKVGMKHYHLKRNQSFCPTVNLDKLWTLVSEQTRVNAAKNKTGAAPIIDVV
                     RSGYYKVLGKGKLPKQPVIVKAKFFSRRAEEKIKSVGGACVLVA"
     misc_feature    23..136
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
                     /note="propagated from UniProtKB/Swiss-Prot (P46776.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    137..139
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
                     /note="(3S)-3-hydroxyhistidine.
                     /evidence=ECO:0000269|PubMed:23103944; propagated from
                     UniProtKB/Swiss-Prot (P46776.2); hydroxylation site"
     misc_feature    161..163
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P46776.2); acetylation site"
     misc_feature    185..187
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P46776.2); acetylation site"
     misc_feature    224..226
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P46776.2);
                     phosphorylation site"
     misc_feature    350..352
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P46776.2); acetylation site"
     regulatory      490..495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
                     /note="hexamer: ATTAAA"
     polyA_site      511
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
                     /note="major polyA site"
     regulatory      692..697
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
                     /note="hexamer: AATAAT"
     polyA_site      715
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
     regulatory      1484..1489
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
                     /note="hexamer: ATTATA"
     polyA_site      1510
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
     regulatory      2162..2167
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
                     /note="hexamer: ATTAAA"
     polyA_site      2193
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
     regulatory      4280..4285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
                     /note="hexamer: AATAAA"
     polyA_site      4308
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
     regulatory      4519..4524
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
                     /note="hexamer: AACAAA"
     polyA_site      4535
                     /gene="RPL27A"
                     /gene_synonym="L27A; uL15"
ORIGIN
        1 ctttttcgtc tgggctgcca acatgccatc cagactgagg aagacccgga aacttagggg
       61 ccacgtgagc cacggccacg gccgcatagg caagcaccgg aagcaccccg gcggccgcgg
      121 taatgctggt ggtctgcatc accaccggat caacttcgac aaataccacc caggctactt
      181 tgggaaagtt ggtatgaagc attaccactt aaagaggaac cagagcttct gcccaactgt
      241 caaccttgac aaattgtgga ctttggtcag tgaacagaca cgggtgaatg ctgctaaaaa
      301 caagactggg gctgctccca tcattgatgt ggtgcgatcg ggctactaca aagttctggg
      361 aaagggaaag ctcccaaagc agcctgtcat cgtgaaggcc aaattcttca gcagaagagc
      421 tgaggagaag attaagagtg ttgggggggc ctgtgtcctg gtggcttgaa gccacatgga
      481 gggagtttca ttaaatgcta actacttttt ccttgtggtg tgagtgtagg ttcttcagtg
      541 gcacctctac atcctgtgtg cattgggagc ccaggttcta gtacttaggg tatgaagaca
      601 tggggtcctc tcctgacttc cctcaaatat atggtaaacg taagaccaac acagacgttg
      661 gccagttaaa catttctgtt tataaagtca gaataatacc tgttgatcac tgaaaggcct
      721 gcatgtattg tactctgaat tttacagtga atgagagaat gtaccctaat tgttcaacag
      781 ggctcaaaag gaaagattcc attttgatgg gtcacattct aaagaggggc agtgtgatag
      841 gaatgagatg gtcctttagg acttaagttc tcagcccaag gtttttccac gtggccccct
      901 catctttttt ttttttttaa acggagtctc tcttgccagg ctggagtgca gtggcacgat
      961 ctcggctcac tgcagcctcc gcctcccagg ttaagcgatt ctcctgcctc agcttcctga
     1021 ctaactggga ttacaggcgc ccaccaccat gcccagctaa tttttgtatt ttcagtagag
     1081 atggggtttc accatgttgg ccatgctggt ctctaactcc taacctcaag tgatctgccc
     1141 acatcggcct ccaaaagttc tgggattata gtgtgagcca ctgcgcccgg ccatggctcc
     1201 ttaatcttga tccaaattat tgttacatcc agaatgtgat gaatcaaaat ctcgagatgg
     1261 gggtccagca atctgaaatt tcagtatgcc agggcttttc tgtatgtcaa agtgggtttg
     1321 aaatagttaa tttttcttct agtctgaaat gtatcgggaa aatttggaaa tcctgaaggc
     1381 tggaaattga aataagtttt tctaggattt gtgtctcttg ctattggaaa actgatggtg
     1441 accaattcat gtttacaaat aagatcctca tagatctcgg taaattataa tttgctacag
     1501 ttttatggtt cttcctgtga ttttgagctt tttttgaccc aaaataatac agtctaaaac
     1561 tatagacaaa taagatggca cttagactcc tgggttttag ttagtggagg tttccttagt
     1621 gcactgtggg gtcataataa gccgagaacc atggctgtct atgggacaca tctgtcagga
     1681 caacctttag aggatgttgg ggatcaaata gaaggcacag agaagcactg aattggctta
     1741 cataagaata ggctagaatt acaagtagtg aaacctcgat tcagctggac aattttaaac
     1801 aaatgtatca tttggcttgt atcttctgtt gtgctggaga agttagaaat aagggctctc
     1861 cagaccagcc tgaccaacct ggagaaacct tgtctctact aaatacacaa aattagccag
     1921 gcgtggtggc acatgcctgt aatcccagct actttggagg ctgagccagg agaatctcca
     1981 ggaggcggag gttgctgtga gccgagatcg tgccattgca ctccagcttg ggcaacaaga
     2041 gtgaaactct gtccaccccc cccaaaaaaa gtaagggctc tccattaggg cccatagagg
     2101 acttgtaata tggaacctga atccaaggat cccacaataa gtggtcagta gttcatgatg
     2161 aattaaaaga ctcaatattt ggtcttcacc caatacctgt gtgactttta gtcctaattt
     2221 cctcatcttt aaaatttcag tgaaagtgcc tacctgagga ttgtgtagat taaaatggaa
     2281 accgtgcact taattttttg ttttgttttg agacggagtc tcgctctgtc gcccaggctg
     2341 gagtgcagtg gtgcgatctc agatcactgc aagctccgcc tcctaggttc agaccattct
     2401 cctgcctcag cttcccaagt agctgggact acaggcgccc gccactgcgc ccggctaatt
     2461 ttttgcattt ttagtagaga cagggtttca ccgtgttagc caggatggtc tcgatctcct
     2521 gatctgcccg cctcagcctc ccaaagtgct gggattacag gcatgagcca ccgcgcccgg
     2581 cccaggcact taatttttgt gtttgactta gtaacttaag tgcaaactat tacgggagca
     2641 gatggagtca attggccttc atgtgattgt cagtgggaaa ttggtccaag cagagggaat
     2701 actggttcag gaaactggtt tgggaaggtt aggcaaacgg gaagtgctat ggtggagaga
     2761 aagattactc tggccgggct gtaaaggacg gctacaatgg gaggctgaag gcagaaccaa
     2821 gaaaatggga gtgagtatgg aaaaggtacg attcagacgg cataatggac gggacttgga
     2881 gactgaattg tagtgggccg accacaaaat gataaggcat ggaaggaagt agagtttggg
     2941 gggaaggatc cctagtccct taatggctac cttcttcccc aggagttgtt aggccatccg
     3001 atcccctggc ctgggaaaga aacactgatt tcgttgctgg cttgttcact caccagaagc
     3061 tacagctact aacagttcta aaaactgttt catgtgatga ggaacagacg aaaatagttt
     3121 tgagccctaa gtccgccgat tccagtgctt tcttgaaccc gcatttacta aaatattttc
     3181 atgactgcca agctttgaat agcctgctgt gttcatggag gctcatactg gcgatctcta
     3241 gtggctggct aaagcttgaa ttgcaaaaga tctaatttct ggtctaatgt atatatgcct
     3301 taaatatagt tgcgttcaaa cgtgggagct gcaggtgcaa cttgatttta tgacaaatgg
     3361 ctgccacata atttgcacaa gcagtgctcg tcaagggcag ctaaatcagg cgagctttca
     3421 atcaaaataa atgtactact aaaccctact tagcggctaa ctagcccaag agcagacagc
     3481 ccacggacgg actgcaagtc ggaagcgcgg gcggaagctg tgcagcgccc acctggtggc
     3541 tccatcggcc gcgttcatca gtcagcacga cccgacctca gtggcgtcct cacaacacag
     3601 accggacctt gggtcttacc ccggcacctg agaaccactt ccggtgagta gcttctactt
     3661 ccggagacga tgactccccc gcgtcccaga ccggaagaag cccggcggag accggcctcg
     3721 ctcggccact tccggcaagg gcggagccgg ccagtggtgc gcgagcgcag ataactcccc
     3781 tggagaggcg ggatgttcaa ctccacccct ggtccttggg cggccgtggg tccccttcga
     3841 agcggaggaa tggccaacct cgccgcactt cgagcccctt tagggtgcgt ttaagaacag
     3901 tgggcgtggc ctttacgtaa atcttcgaga tgggaacctc cagaatttgt ctcaattgtc
     3961 taaaaggtaa tgagcgtcag cgacattcaa gggcactttg ggctaaaaaa gaaagtgctt
     4021 gtacacggat ggaaatattc tagaagaaca taaaaggaat ttcctcttag gaggttaggg
     4081 aaatgagcac gaagtatgtt ttggtgcagt tttttgttca acccaatgcg tattttcata
     4141 ttgagaggca atataaatgg agcgaaagta tcttgagaaa aaaaaaaaaa ctaccagaac
     4201 ttgccgttgc tgaaaagtaa tattttctct ttcgagagtt ttcatggcct tttaaattac
     4261 acccccacct ccacaggcaa ataaatttgt tttggaatgc ataccacatc atctggctct
     4321 agaaacgtat tttgtgtagc tcccctagca agaatatagg ttaaagcgta aatttaattc
     4381 ctggctctat tttacatccc aatttttatt ttcctctcat tcccacttta cgttgtttca
     4441 aataacctag tttgtgtatc cctgtaagtc attttggtat aaagtaggtt ataagtgtac
     4501 atgcgaaaag atgtttttaa caaaaatgta actga
//
LOCUS       NM_000991               4209 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L28 (RPL28), transcript variant 2,
            mRNA.
ACCESSION   NM_000991
VERSION     NM_000991.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4209)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 4209)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4209)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 4209)
  AUTHORS   Labriet A, Levesque E, Cecchin E, De Mattia E, Villeneuve L, Rouleau
            M, Jonker D, Couture F, Simonyan D, Allain EP, Buonadonna A,
            D'Andrea M, Toffoli G and Guillemette C.
  TITLE     Germline variability and tumor expression level of ribosomal protein
            gene RPL28 are associated with survival of metastatic colorectal
            cancer patients
  JOURNAL   Sci Rep 9 (1), 13008 (2019)
   PUBMED   31506518
  REMARK    GeneRIF: Germline variability and tumor expression level of
            ribosomal protein gene RPL28 are associated with survival of
            metastatic colorectal cancer patients. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 4209)
  AUTHORS   Wei J, Kishton RJ, Angel M, Conn CS, Dalla-Venezia N, Marcel V,
            Vincent A, Catez F, Ferre S, Ayadi L, Marchand V, Dersh D, Gibbs JS,
            Ivanov IP, Fridlyand N, Coute Y, Diaz JJ, Qian SB, Staudt LM,
            Restifo NP and Yewdell JW.
  TITLE     Ribosomal Proteins Regulate MHC Class I Peptide Generation for
            Immunosurveillance
  JOURNAL   Mol Cell 73 (6), 1162-1173 (2019)
   PUBMED   30712990
  REMARK    GeneRIF: 60S ribosomal proteins L6 (RPL6) and RPL28, which are
            adjacent on the ribosome, play opposite roles in generating an
            influenza A virus-encoded peptide. Depleting RPL6 decreases
            ubiquitin-dependent peptide presentation, whereas depleting RPL28
            increases ubiquitin-dependent and -independent peptide presentation.
REFERENCE   6  (bases 1 to 4209)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   7  (bases 1 to 4209)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   8  (bases 1 to 4209)
  AUTHORS   Frigerio JM, Dagorn JC and Iovanna JL.
  TITLE     Cloning, sequencing and expression of the L5, L21, L27a, L28, S5,
            S9, S10 and S29 human ribosomal protein mRNAs
  JOURNAL   Biochim Biophys Acta 1262 (1), 64-68 (1995)
   PUBMED   7772601
REFERENCE   9  (bases 1 to 4209)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   10  (bases 1 to 4209)
  AUTHORS   Brown,J.R., Daar,I.O., Krug,J.R. and Maquat,L.E.
  TITLE     Characterization of the functional gene and several processed
            pseudogenes in the human triosephosphate isomerase gene family
  JOURNAL   Mol Cell Biol 5 (7), 1694-1706 (1985)
   PUBMED   4022011
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC011582.1, AU131942.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000344063.7/ ENSP00000342787.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AK311760.1, AC020922.9 and BC011582.1.
            On Jun 2, 2019 this sequence version replaced NM_000991.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L28E family of ribosomal proteins. It is located in the
            cytoplasm. Variable expression of this gene in colorectal cancers
            compared to adjacent normal tissues has been observed, although no
            correlation between the level of expression and the severity of the
            disease has been found. As is typical for genes encoding ribosomal
            proteins, there are multiple processed pseudogenes of this gene
            dispersed through the genome. Alternative splicing results in
            multiple transcript variants encoding distinct isoforms.[provided
            by RefSeq, Oct 2008].
            Transcript Variant: This variant (2) lacks a stop-codon-containing
            segment in the 3' coding region, compared to variant 1. The encoded
            protein (isoform 2) has a distinct and shorter C-terminus when
            compared to isoform 1.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic and transcript sequence to make the sequence consistent
            with the reference genome assembly. The extent of this transcript
            is supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4209
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..4209
                     /gene="RPL28"
                     /gene_synonym="eL28; L28"
                     /note="ribosomal protein L28"
                     /db_xref="GeneID:6158"
                     /db_xref="HGNC:HGNC:10330"
                     /db_xref="MIM:603638"
     CDS             43..456
                     /gene="RPL28"
                     /gene_synonym="eL28; L28"
                     /EC_number="3.6.5.3"
                     /note="isoform 2 is encoded by transcript variant 2; 60S
                     ribosomal protein L28; large ribosomal subunit protein
                     eL28"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL28 isoform 2"
                     /protein_id="NP_000982.2"
                     /db_xref="CCDS:CCDS12924.1"
                     /db_xref="GeneID:6158"
                     /db_xref="HGNC:HGNC:10330"
                     /db_xref="MIM:603638"
                     /translation="MSAHLQWMVVRNCSSFLIKRNKQTYSTEPNNLKARNSFRYNGLIH
                     RKTVGVEPAADGKGVVVVIKRRSGQRKPATSYVRTTINKNARATLSSIRHMIRKNKYRP
                     DLRMAAIRRASAILRSQKPVMVKRKRTRPTKSS"
     misc_feature    46..48
                     /gene="RPL28"
                     /gene_synonym="eL28; L28"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:12962325, ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P46779.3); acetylation site"
     misc_feature    385..387
                     /gene="RPL28"
                     /gene_synonym="eL28; L28"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P46779.3); phosphorylation site"
     regulatory      475..480
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL28"
                     /gene_synonym="eL28; L28"
                     /note="hexamer: AATAAA"
     polyA_site      499
                     /gene="RPL28"
                     /gene_synonym="eL28; L28"
                     /note="major polyA site"
     regulatory      3871..3876
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL28"
                     /gene_synonym="eL28; L28"
                     /note="hexamer: AATAAA"
     polyA_site      3896
                     /gene="RPL28"
                     /gene_synonym="eL28; L28"
     regulatory      4188..4193
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL28"
                     /gene_synonym="eL28; L28"
                     /note="hexamer: AATAAA"
     polyA_site      4209
                     /gene="RPL28"
                     /gene_synonym="eL28; L28"
ORIGIN
        1 ctctttccgt ctcaggtcgc cgctgcgaag ggagccgccg ccatgtctgc gcatctgcaa
       61 tggatggtcg tgcggaactg ctccagtttc ctgatcaaga ggaataagca gacctacagc
      121 actgagccca ataacttgaa ggcccgcaat tccttccgct acaacggact gattcaccgc
      181 aagactgtgg gcgtggagcc ggcagccgac ggcaaaggtg tcgtggtggt cattaagcgg
      241 agatccggcc agcggaagcc tgccacctcc tatgtgcgga ccaccatcaa caagaatgct
      301 cgcgccacgc tcagcagcat cagacacatg atccgcaaga acaagtaccg ccccgacctg
      361 cgcatggcag ccatccgcag ggccagcgcc atcctgcgca gccagaagcc tgtgatggtg
      421 aagaggaagc ggacccgccc caccaagagc tcctgagccc cctgccccca gagcaataaa
      481 gtcagctggc tttctcacct gcctcgactg ggcctccctt tttgaaacgc tctggggagc
      541 tctggccctg tgtgttgtca ttcaggccat gtcatcaaaa ctctgcatgt caccttgtcc
      601 atctggaggt gatgtcaatg gctggccatg caggaggggt ggggtagctg ccttgtccct
      661 ggtgagggca agggtcactg tcttcacaga aaaagtttgc tgacttgtga ttgagaccta
      721 ctgtcccatt gtgaggtggc ctgaagaatc ccagctgggg cagtggcttc cattcagaag
      781 aagaaaggcc ttttctagcc cagaagggtg caggctgagg gctgggccct gggccctggt
      841 gctgtagcac ggtttgggga cttggggtgt tcccaagacc tgggggacga cagacatcac
      901 gggaggaaga tgagatgact tttgcatcca gggagtgggt gcagccacat ttggagggga
      961 tgggctttac ttgatgcaac ctcatctctg agatgggcaa cttggtgggt ggtggcttat
     1021 aactgtaagg gagatggcag ccccagggta cagccagcag gcattgagca gccttagcat
     1081 tgtcccccta ctcccgtcct ccaggtgtcc ccatccctcc cctgtctctt tgagctggct
     1141 cttgtcactt aggtctcatc tcagtggccg ctcctgggcc accctgtcac ccaagctttc
     1201 ctgattgccc agccctcttg tttcctttgg cctgtttgct ccctagtgtt tattacagct
     1261 tgtgaggcca ggagtttgag accatcctag gcaacataat gagacaccgt ctctaaaata
     1321 aaattagctg ggtgtggtgg tgcaccgcct gtggtcccag ctcctcagag gttgagtaga
     1381 ggctgaggtg agcggagcac ttgagccaag agtatgaggc tgcagtgagc ccatgagccc
     1441 caccactaca ctccagcctg gaagacacca tgacacacag tgaggcctgg atggggaaag
     1501 agtcctgctg ttgatcctca catgtttcct gggcacctaa ctctgtcagc cactgccagg
     1561 gaccaaggat ccagcatcca tggcacccct ggttcctgcc atcctggggt acccgattca
     1621 aagaaggact ctgctccctg tctgagacca cccccggctc tgactgagag taaggggact
     1681 gtcagggcct cgacttgcca ttggttgggg tcgtacgggg ctgggagccc tgcgttttga
     1741 ggcagaccac tgcccttccg acctcagtcc tgtctgctcc agtcttgccc agctcgaagg
     1801 agagcagatc tgaccacttg ccagcccctg tctgctgtga attaccattt cctttgtcct
     1861 tcccttagtt gggtctatta gctcagattg agaggtgttg ccttaaaact gagttgggtg
     1921 acttggtacc tgctcaggac cccccgcact gtcccaatcc cactcaggcc cacctccagc
     1981 tggcctcact ccgctggtga cttcgtacct gctcaggagc ccccactgtc ccagtcccac
     2041 tcaggcccat ctctggctgg cctcactgcg ctgggactcc gccttcataa ggagagctca
     2101 ctgctcacgt tagtagatgg ccccttctcg tgaggcctct cccctggcac ctgcttcagt
     2161 tgtcctccac agcactgatt tgcagcccac aagctggcag gtttatctgt ctcatgtttg
     2221 tcttgtgctg gtgggcaagg ggtttgtcta gcacaccagc atataatgag atgcttgatg
     2281 aatggtgcat attgaatgta taaagcccac cggtcctgag agtttgctca ctggagactt
     2341 tctggagatg gagtctcgct ctgttgccca ggctggcgag tgcaatggcg cgatcttggc
     2401 tcactgcagc ctccacctcc tgggttcaag cgattctcct gcctcagcct cccgagtagc
     2461 tgggattaca ggtgggtgtc accacaccca gctcagtatt gtatttttag cagagatggg
     2521 gtttcaccat tttgcccagg ctggtttgga actcctgact tcaaattacc cacctgcctc
     2581 agcctcccaa agtgctggca ttacaggcgc tcgaggcttt ctgatgtggc tgctgctgct
     2641 cagaaggcct tgtccttaac cacctccttg cctgccctgg aggcttgtgc ctctaggccc
     2701 caccccctgt ggagtcctgc tggctttctc catccctatc tgaatcctcc ctgctgtgtg
     2761 gcctcccctg gtctcatccg taacacagcc cagcttagtg ggcctctgtt cctgcgggtg
     2821 gccagcctgt ctgtgtggct gggctgggga ggccacgtct ggtatctgaa tgctatcggt
     2881 gggttggggt ggaggaacca ggagagggct ggagggaggg agatggtctc agccccacag
     2941 agtttggagt cctcagtgtg ctgagcaaac gtggagacac catttccctc ctctagacct
     3001 catcttggag agagagatgt tggatggggc catctattcc agctttattc acacaaatca
     3061 tgtctgttgg cctggaaatt ggaaaaccag ttaaaccaaa aacatgatat taagaaaaca
     3121 ggcaggctca ccatagtaaa aatgctgaaa gccaaagaca aaattgggag aacaaaagaa
     3181 aagcgtcttg tcacatacag aaggtccctg ataaagttag tagctgccct catcagaaac
     3241 caggcccagg cagtggggac acatccagag tgctgaaaga acctccccca ggtcatccta
     3301 tccccaagag tgatgcccgg cagcattccc agctcagggc taatggttca cggaagccag
     3361 gaatcaaact gcctgggttc cagtcccagc tctgccagtt atgcccagct gtggggactt
     3421 gggcagctcg tttagtagca ccgtgcctca gtttcccata tgtaaaaggc cattttgagt
     3481 gcctttcaca gccctgcata aggcaggtgt ctcagtgttc actgctgtct ctccagctct
     3541 tagtccagta gctgcatggt gagtgagcgt agggcgcacc ctggaaggct gccaagccca
     3601 aagttgtgca gagcgctggg gactccagac tccccacagc agcagagact cgggactgag
     3661 gcatcctctg ttcacaggac atgctggcat ctactgggtc agggctctgc tgctcggtgg
     3721 ctgtgcaacc ttgggcaagt tcctcaacct ctctgtgtct tcgtaccctc atctgtaaca
     3781 tgcgtgtcga tagaccctac tactcagggt tgatgagaag attaaatgtg caaaacctgc
     3841 ttgactgtgc ccacaaatcc tgattgtagg aataaattaa tgacttttta taaatatttt
     3901 gatcagatgg actcatgatc acagatgtct tcacatgcct atgactaatt tgtacacaaa
     3961 ctaatgctcg tgtttcccaa gcacctggaa gacatgccag atccatgtgc agtaatgcct
     4021 ggtggctcca ggtctgcccc gccgtcctgt ggggctgtga gctttcccag cctcctgccc
     4081 gtgtttgtga atatcattct gtcctcagct gcatttccag cccaggctgt ttggcgctgc
     4141 ccaggaatgg tatcaattcc cctgtttctc ttgtagccag ttactagaat aaaatcatct
     4201 actttaaaa
//
LOCUS       NM_000992                754 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L29 (RPL29), mRNA.
ACCESSION   NM_000992
VERSION     NM_000992.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 754)
  AUTHORS   Babaylova ES, Kolobova AV, Gopanenko AV, Tupikin AE, Kabilov MR,
            Malygin AA and Karpova GG.
  TITLE     The human ribosomal protein eL29 binds in vivo to the cognate mRNA
            by interacting with its coding sequence, as revealed from in-cell
            cross-linking data
  JOURNAL   Biochimie 177, 68-77 (2020)
   PUBMED   32798643
  REMARK    GeneRIF: The human ribosomal protein eL29 binds in vivo to the
            cognate mRNA by interacting with its coding sequence, as revealed
            from in-cell cross-linking data.
REFERENCE   2  (bases 1 to 754)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 754)
  AUTHORS   Li J and Peng Y.
  TITLE     Knockdown RPL29 Gene Can Inhibit the Proliferation, Invasion of
            Squamous Cell Carcinomas
  JOURNAL   Ann Clin Lab Sci 49 (6), 763-769 (2019)
   PUBMED   31882427
  REMARK    GeneRIF: RPL29 is upregulated in the gingival squamous cell
            carcinoma.RPL29 role in the cell proliferation of the gingival
            squamous cell carcinoma.
REFERENCE   4  (bases 1 to 754)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   5  (bases 1 to 754)
  AUTHORS   Guo Z, Neilson LJ, Zhong H, Murray PS, Zanivan S and Zaidel-Bar R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 754)
  AUTHORS   Rohde LH, Julian J, Babaknia A and Carson DD.
  TITLE     Cell surface expression of HIP, a novel heparin/heparan sulfate
            binding protein, of human uterine epithelial cells and cell lines
  JOURNAL   J Biol Chem 271 (20), 11824-11830 (1996)
   PUBMED   8662617
REFERENCE   7  (bases 1 to 754)
  AUTHORS   Liu S, Smith SE, Julian J, Rohde LH, Karin NJ and Carson DD.
  TITLE     cDNA cloning and expression of HIP, a novel cell surface heparan
            sulfate/heparin-binding protein of human uterine epithelial cells
            and cell lines
  JOURNAL   J Biol Chem 271 (20), 11817-11823 (1996)
   PUBMED   8662616
REFERENCE   8  (bases 1 to 754)
  AUTHORS   Law PT, Tsui SK, Lam WY, Luk SC, Hwang DM, Liew CC, Lee CY, Fung KP
            and Waye MM.
  TITLE     A novel cDNA encoding a human homologue of ribosomal protein L29
  JOURNAL   Biochim Biophys Acta 1305 (3), 105-108 (1996)
   PUBMED   8597591
REFERENCE   9  (bases 1 to 754)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   10  (bases 1 to 754)
  AUTHORS   Nika,H. and Hultin,T.
  TITLE     Location of the sulfhydryl groups involved in disulfide interaction
            between the neighboring proteins L6 and L29 in mammalian ribosomes.
            S-cleavage of the cyanylated proteins in polyacrylamide gels after
            separation by dodecylsulfate gel electrophoresis
  JOURNAL   Eur J Biochem 142 (3), 521-526 (1984)
   PUBMED   6468376
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CD249111.1, CD247488.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000294189.11/ ENSP00000294189.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BC008926.2 and AC115284.4.
            On May 17, 2019 this sequence version replaced NM_000992.2.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a cytoplasmic
            ribosomal protein that is a component of the 60S subunit. The
            protein belongs to the L29E family of ribosomal proteins. The
            protein is also a peripheral membrane protein expressed on the cell
            surface that directly binds heparin. Although this gene was
            previously reported to map to 3q29-qter, it is believed that it is
            located at 3p21.3-p21.2. As is typical for genes encoding ribosomal
            proteins, there are multiple processed pseudogenes of this gene
            dispersed through the genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..754
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.2"
     gene            1..754
                     /gene="RPL29"
                     /gene_synonym="eL29; HIP; HUMRPL29; L29; RPL29P10;
                     RPL29_3_370"
                     /note="ribosomal protein L29"
                     /db_xref="GeneID:6159"
                     /db_xref="HGNC:HGNC:10331"
                     /db_xref="MIM:601832"
     misc_feature    1
                     /gene="RPL29"
                     /gene_synonym="eL29; HIP; HUMRPL29; L29; RPL29P10;
                     RPL29_3_370"
                     /note="predominant transcription initiation site"
     CDS             48..527
                     /gene="RPL29"
                     /gene_synonym="eL29; HIP; HUMRPL29; L29; RPL29P10;
                     RPL29_3_370"
                     /note="heparin/heparan sulfate-interacting protein;
                     HP/HS-interacting protein; heparin/heparan sulfate-binding
                     protein; cell surface heparin-binding protein HIP; 60S
                     ribosomal protein L29; ribosomal protein YL43 homologue"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL29"
                     /protein_id="NP_000983.1"
                     /db_xref="CCDS:CCDS2845.1"
                     /db_xref="GeneID:6159"
                     /db_xref="HGNC:HGNC:10331"
                     /db_xref="MIM:601832"
                     /translation="MAKSKNHTTHNQSRKWHRNGIKKPRSQRYESLKGVDPKFLRNMRF
                     AKKHNKKGLKKMQANNAKAMSARAEAIKALVKPKEVKPKIPKGVSRKLDRLAYIAHPKL
                     GKRARARIAKGLRLCRPKAKAKAKAKDQTKAQAAAPASVPAQAPKRTQAPTKASE"
     misc_feature    48..143
                     /gene="RPL29"
                     /gene_synonym="eL29; HIP; HUMRPL29; L29; RPL29P10;
                     RPL29_3_370"
                     /note="propagated from UniProtKB/Swiss-Prot (P47914.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    60..62
                     /gene="RPL29"
                     /gene_synonym="eL29; HIP; HUMRPL29; L29; RPL29P10;
                     RPL29_3_370"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000269|PubMed:12962325,
                     ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P47914.2); methylation site"
     misc_feature    138..140
                     /gene="RPL29"
                     /gene_synonym="eL29; HIP; HUMRPL29; L29; RPL29P10;
                     RPL29_3_370"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P47914.2); phosphorylation site"
     misc_feature    144..146
                     /gene="RPL29"
                     /gene_synonym="eL29; HIP; HUMRPL29; L29; RPL29P10;
                     RPL29_3_370"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P47914.2); acetylation site"
     misc_feature    396..524
                     /gene="RPL29"
                     /gene_synonym="eL29; HIP; HUMRPL29; L29; RPL29P10;
                     RPL29_3_370"
                     /note="propagated from UniProtKB/Swiss-Prot (P47914.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    471..473
                     /gene="RPL29"
                     /gene_synonym="eL29; HIP; HUMRPL29; L29; RPL29P10;
                     RPL29_3_370"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P47914.2);
                     phosphorylation site"
     regulatory      631..636
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL29"
                     /gene_synonym="eL29; HIP; HUMRPL29; L29; RPL29P10;
                     RPL29_3_370"
                     /note="hexamer: AATAAA"
     polyA_site      676
                     /gene="RPL29"
                     /gene_synonym="eL29; HIP; HUMRPL29; L29; RPL29P10;
                     RPL29_3_370"
                     /note="major polyA site"
ORIGIN
        1 ctcttccggt tctaggcgct tcgggagccg cggcttatgg tgcagacatg gccaagtcca
       61 agaaccacac cacacacaac cagtcccgaa aatggcacag aaatggtatc aagaaacccc
      121 gatcacaaag atacgaatct cttaaggggg tggaccccaa gttcctgagg aacatgcgct
      181 ttgccaagaa gcacaacaaa aagggcctaa agaagatgca ggccaacaat gccaaggcca
      241 tgagtgcacg tgccgaggct atcaaggccc tcgtaaagcc caaggaggtt aagcccaaga
      301 tcccaaaggg tgtcagccgc aagctcgatc gacttgccta cattgcccac cccaagcttg
      361 ggaagcgtgc tcgtgcccgt attgccaagg ggctcaggct gtgccggcca aaggccaagg
      421 ccaaggccaa ggccaaggat caaaccaagg cccaggctgc agccccagct tcagttccag
      481 ctcaggctcc caaacgtacc caggccccta caaaggcttc agagtagata tctctgccaa
      541 catgaggaca gaaggactgg tgcgaccccc cacccccgcc cctgggctac catctgcatg
      601 gggctggggt cctcctgtgc tatttgtaca aataaacctg aggcaggatt tgttagcctc
      661 tgtctatgat cctggggatg ggtttggttg ctccatctgt tggtgtggga gaagacatgg
      721 gtctggatgg tggggtgtgg gtgggagtca ggag
//
LOCUS       NM_000993               1291 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens ribosomal protein L31 (RPL31), transcript variant 1,
            mRNA.
ACCESSION   NM_000993
VERSION     NM_000993.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1291)
  AUTHORS   Zhou Y, Liu Y, Gupta S, Paramo MI, Hou Y, Mao C, Luo Y, Judd J,
            Wierbowski S, Bertolotti M, Nerkar M, Jehi L, Drayman N, Nicolaescu
            V, Gula H, Tay S, Randall G, Wang P, Lis JT, Feschotte C, Erzurum
            SC, Cheng F and Yu H.
  TITLE     A comprehensive SARS-CoV-2-human protein-protein interactome reveals
            COVID-19 pathobiology and potential host therapeutic targets
  JOURNAL   Nat Biotechnol 41 (1), 128-139 (2023)
   PUBMED   36217030
REFERENCE   2  (bases 1 to 1291)
  AUTHORS   Sharen G, Li X, Sun J, Zhang L, Xi W, Zhao X, Han F, Jia L, A R,
            Cheng H and Hou M.
  TITLE     Silencing eL31 suppresses the progression of colorectal cancer via
            targeting DEPDC1
  JOURNAL   J Transl Med 20 (1), 493 (2022)
   PUBMED   36309731
  REMARK    GeneRIF: Silencing eL31 suppresses the progression of colorectal
            cancer via targeting DEPDC1. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1291)
  AUTHORS   Nabeel-Shah S, Lee H, Ahmed N, Burke GL, Farhangmehr S, Ashraf K, Pu
            S, Braunschweig U, Zhong G, Wei H, Tang H, Yang J, Marcon E,
            Blencowe BJ, Zhang Z and Greenblatt JF.
  TITLE     SARS-CoV-2 nucleocapsid protein binds host mRNAs and attenuates
            stress granules to impair host stress response
  JOURNAL   iScience 25 (1), 103562 (2022)
   PUBMED   34901782
REFERENCE   4  (bases 1 to 1291)
  AUTHORS   Chen Z, Wang C, Feng X, Nie L, Tang M, Zhang H, Xiong Y, Swisher SK,
            Srivastava M and Chen J.
  TITLE     Interactomes of SARS-CoV-2 and human coronaviruses reveal host
            factors potentially affecting pathogenesis
  JOURNAL   EMBO J 40 (17), e107776 (2021)
   PUBMED   34232536
REFERENCE   5  (bases 1 to 1291)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 1291)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   7  (bases 1 to 1291)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   8  (bases 1 to 1291)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301769
REFERENCE   9  (bases 1 to 1291)
  AUTHORS   Chester KA, Robson L, Begent RH, Talbot IC, Pringle JH, Primrose L,
            Macpherson AJ, Boxer G, Southall P and Malcolm AD.
  TITLE     Identification of a human ribosomal protein mRNA with increased
            expression in colorectal tumours
  JOURNAL   Biochim Biophys Acta 1009 (3), 297-300 (1989)
   PUBMED   2597680
REFERENCE   10  (bases 1 to 1291)
  AUTHORS   Nobori T, Hexdall LE and Carson DA.
  TITLE     cDNA sequence of human ribosomal protein L31
  JOURNAL   Nucleic Acids Res 17 (17), 7105 (1989)
   PUBMED   2780320
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CB106299.1, SRR1660809.181058.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000264258.8/ ENSP00000264258.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from DA869102.1, BC070373.1, BC017343.2 and AC016738.6.
            On Nov 23, 2018 this sequence version replaced NM_000993.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L31E family of ribosomal proteins. It is located in the
            cytoplasm. Higher levels of expression of this gene in familial
            adenomatous polyps compared to matched normal tissues have been
            observed. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. Alternatively spliced transcript variants
            encoding distinct isoforms have been found for this gene. [provided
            by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1291
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..1291
                     /gene="RPL31"
                     /gene_synonym="eL31; L31"
                     /note="ribosomal protein L31"
                     /db_xref="GeneID:6160"
                     /db_xref="HGNC:HGNC:10334"
                     /db_xref="MIM:617415"
     CDS             28..405
                     /gene="RPL31"
                     /gene_synonym="eL31; L31"
                     /note="isoform 1 is encoded by transcript variant 1; 60S
                     ribosomal protein L31; large ribosomal subunit protein
                     eL31"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL31 isoform 1"
                     /protein_id="NP_000984.1"
                     /db_xref="CCDS:CCDS2049.1"
                     /db_xref="GeneID:6160"
                     /db_xref="HGNC:HGNC:10334"
                     /db_xref="MIM:617415"
                     /translation="MAPAKKGGEKKKGRSAINEVVTREYTINIHKRIHGVGFKKRAPRA
                     LKEIRKFAMKEMGTPDVRIDTRLNKAVWAKGIRNVPYRIRVRLSRKRNEDEDSPNKLYT
                     LVTYVPVTTFKNLQTVNVDEN"
     misc_feature    28..30
                     /gene="RPL31"
                     /gene_synonym="eL31; L31"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P62899.1); acetylation site"
     misc_feature    70..72
                     /gene="RPL31"
                     /gene_synonym="eL31; L31"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P62900; propagated from
                     UniProtKB/Swiss-Prot (P62899.1); phosphorylation site"
     misc_feature    250..252
                     /gene="RPL31"
                     /gene_synonym="eL31; L31"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62899.1); acetylation site"
     misc_feature    319..321
                     /gene="RPL31"
                     /gene_synonym="eL31; L31"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P62899.1);
                     phosphorylation site"
     regulatory      424..429
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL31"
                     /gene_synonym="eL31; L31"
                     /note="hexamer: AATAAA"
     polyA_site      442
                     /gene="RPL31"
                     /gene_synonym="eL31; L31"
                     /note="major polyA site"
     regulatory      798..803
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL31"
                     /gene_synonym="eL31; L31"
                     /note="hexamer: AATGAA"
     polyA_site      845
                     /gene="RPL31"
                     /gene_synonym="eL31; L31"
     regulatory      960..965
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL31"
                     /gene_synonym="eL31; L31"
                     /note="hexamer: AGTAAA"
     polyA_site      993
                     /gene="RPL31"
                     /gene_synonym="eL31; L31"
     regulatory      1271..1276
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL31"
                     /gene_synonym="eL31; L31"
                     /note="hexamer: ATTAAA"
     polyA_site      1291
                     /gene="RPL31"
                     /gene_synonym="eL31; L31"
ORIGIN
        1 cttcctttcc aacttggacg ctgcagaatg gctcccgcaa agaagggtgg cgagaagaaa
       61 aagggccgtt ctgccatcaa cgaagtggta acccgagaat acaccatcaa cattcacaag
      121 cgcatccatg gagtgggctt caagaagcgt gcacctcggg cactcaaaga gattcggaaa
      181 tttgccatga aggagatggg aactccagat gtgcgcattg acaccaggct caacaaagct
      241 gtctgggcca aaggaataag gaatgtgcca taccgaatcc gtgtgcggct gtccagaaaa
      301 cgtaatgagg atgaagattc accaaataag ctatatactt tggttaccta tgtacctgtt
      361 accactttca aaaatctaca gacagtcaat gtggatgaga actaatcgct gatcgtcaga
      421 tcaaataaag ttataaaatt gccttcatgt ttttgttctt tttagttgca acataatgta
      481 cttgtatacc ctatcctaat tatgggatca tttgaagagc ttttcccaaa ttgatggcct
      541 gtgctgcctt ctccccatcc cctggggttt taaagtgatt tcaaactgca acctagtttt
      601 agaaccactg ttctgggtag ttgggatact gaaggcatat tgttaattat tctacttgta
      661 tgttttgcta attctaagat aagcattttt ccagaaacca ggatgtagaa tccagttgcc
      721 attgacatct taacatttta ggaaacaact ttaaaatgat atactatcta tctatctatc
      781 tgtagcatct taaaggtaat gaaattaatg tggcagtagg tcttttaagc ttctgcctac
      841 atccatattg agtatagttg ttgtcttcta aaataattaa ttgatttttg gtgagataac
      901 cagattcata ttttaagcct tttgtaatgg ccccgtggta cctggagtca aggttcagaa
      961 gtaaaaagtt ccttaaggta tcaataacaa aaatttgtat taatagttca gtcctaaagc
     1021 agtgttgctg agattatgtt tcaccagcat ttacaagctg tatgttaaat gctgccataa
     1081 agaggtctct gaagccgtag ggcacaccca aggcagggct gagaagtacc tagtagtgtt
     1141 gcaccaccca aaaaccatgg atgggcagca gcaacatctc cagcttaccc attcactgcc
     1201 acagtctaca gcttaagaca cttaactaca aggtaaaaga aaaggaccaa gtaaatacaa
     1261 aaagtttctt attaaaaaac ttggaagcca a
//
LOCUS       NM_000994               2094 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L32 (RPL32), transcript variant 1,
            mRNA.
ACCESSION   NM_000994
VERSION     NM_000994.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2094)
  AUTHORS   Xu L, Wang L, Jiang C, Zhu Q, Chen R, Wang J and Wang S.
  TITLE     Biological effect of ribosomal protein L32 on human breast cancer
            cell behavior
  JOURNAL   Mol Med Rep 22 (3), 2478-2486 (2020)
   PUBMED   32705264
  REMARK    GeneRIF: Biological effect of ribosomal protein L32 on human breast
            cancer cell behavior.
REFERENCE   2  (bases 1 to 2094)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2094)
  AUTHORS   Rutkowski D, Syed F, Matthews LC, Ray DW, McGrouther DA, Watson RE
            and Bayat A.
  TITLE     An abnormality in glucocorticoid receptor expression differentiates
            steroid responders from nonresponders in keloid disease
  JOURNAL   Br J Dermatol 173 (3), 690-700 (2015)
   PUBMED   25712143
REFERENCE   4  (bases 1 to 2094)
  AUTHORS   Behrmann E, Loerke J, Budkevich TV, Yamamoto K, Schmidt A, Penczek
            PA, Vos MR, Burger J, Mielke T, Scheerer P and Spahn CM.
  TITLE     Structural snapshots of actively translating human ribosomes
  JOURNAL   Cell 161 (4), 845-857 (2015)
   PUBMED   25957688
REFERENCE   5  (bases 1 to 2094)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   6  (bases 1 to 2094)
  AUTHORS   Yoshihama M, Uechi T, Asakawa S, Kawasaki K, Kato S, Higa S, Maeda
            N, Minoshima S, Tanaka T, Shimizu N and Kenmochi N.
  TITLE     The human ribosomal protein genes: sequencing and comparative
            analysis of 73 genes
  JOURNAL   Genome Res 12 (3), 379-390 (2002)
   PUBMED   11875025
REFERENCE   7  (bases 1 to 2094)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   8  (bases 1 to 2094)
  AUTHORS   Vorobieva NV, Filipenko ML, Karpova GG, Mertvetsov NP and
            Graphodatsky AS.
  TITLE     Assignment of the L32 ribosomal protein gene (RPL32) to human
            chromosome 3q13.3-->q21 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 77 (3-4), 190-191 (1997)
   PUBMED   9284913
REFERENCE   9  (bases 1 to 2094)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   10  (bases 1 to 2094)
  AUTHORS   Young,J.A. and Trowsdale,J.
  TITLE     A processed pseudogene in an intron of the HLA-DP beta 1 chain gene
            is a member of the ribosomal protein L32 gene family
  JOURNAL   Nucleic Acids Res 13 (24), 8883-8891 (1985)
   PUBMED   3866218
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX419829.2, BX432517.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000429711.7/ ENSP00000416429.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from CF124158.1, AC034198.7 and CA436299.1.
            On May 17, 2019 this sequence version replaced NM_000994.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L32E family of ribosomal proteins. It is located in the
            cytoplasm. Although some studies have mapped this gene to
            3q13.3-q21, it is believed to map to 3p25-p24. As is typical for
            genes encoding ribosomal proteins, there are multiple processed
            pseudogenes of this gene dispersed through the genome.
            Alternatively spliced transcript variants encoding the same protein
            have been observed for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the predominant
            transcript. Variants 1, 2 and 3 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2094
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.2"
     gene            1..2094
                     /gene="RPL32"
                     /gene_synonym="eL32; L32; PP9932"
                     /note="ribosomal protein L32"
                     /db_xref="GeneID:6161"
                     /db_xref="HGNC:HGNC:10336"
     misc_feature    25
                     /gene="RPL32"
                     /gene_synonym="eL32; L32; PP9932"
                     /note="predominant transcription initiation site"
     CDS             78..485
                     /gene="RPL32"
                     /gene_synonym="eL32; L32; PP9932"
                     /note="60S ribosomal protein L32"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL32"
                     /protein_id="NP_000985.1"
                     /db_xref="CCDS:CCDS2614.1"
                     /db_xref="GeneID:6161"
                     /db_xref="HGNC:HGNC:10336"
                     /translation="MAALRPLVKPKIVKKRTKKFIRHQSDRYVKIKRNWRKPRGIDNRV
                     RRRFKGQILMPNIGYGSNKKTKHMLPSGFRKFLVHNVKELEVLLMCNKSYCAEIAHNVS
                     SKNRKAIVERAAQLAIRVTNPNARLRSEENE"
     misc_feature    261..263
                     /gene="RPL32"
                     /gene_synonym="eL32; L32; PP9932"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P62910.2); phosphorylation site"
     regulatory      513..518
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL32"
                     /gene_synonym="eL32; L32; PP9932"
                     /note="hexamer: AATAAA"
     polyA_site      532
                     /gene="RPL32"
                     /gene_synonym="eL32; L32; PP9932"
                     /note="major polyA site"
     regulatory      1541..1546
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL32"
                     /gene_synonym="eL32; L32; PP9932"
                     /note="hexamer: AATAAA"
     polyA_site      1566
                     /gene="RPL32"
                     /gene_synonym="eL32; L32; PP9932"
     regulatory      1607..1612
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL32"
                     /gene_synonym="eL32; L32; PP9932"
                     /note="hexamer: CATAAA"
     polyA_site      1627
                     /gene="RPL32"
                     /gene_synonym="eL32; L32; PP9932"
ORIGIN
        1 agcccttgcg cgccaccgtc ccttctctct tcctcggcgc tgcctacgga ggtggcagcc
       61 atctccttct cggcatcatg gccgccctca gaccccttgt gaagcccaag atcgtcaaaa
      121 agagaaccaa gaagttcatc cggcaccagt cagaccgata tgtcaaaatt aagcgtaact
      181 ggcggaaacc cagaggcatt gacaacaggg ttcgtagaag attcaagggc cagatcttga
      241 tgcccaacat tggttatgga agcaacaaaa aaacaaagca catgctgccc agtggcttcc
      301 ggaagttcct ggtccacaac gtcaaggagc tggaagtgct gctgatgtgc aacaaatctt
      361 actgtgccga gatcgctcac aatgtttcct ccaagaaccg caaagccatc gtggaaagag
      421 ctgcccaact ggccatcaga gtcaccaacc ccaatgccag gctgcgcagt gaagaaaatg
      481 agtaggcagc tcatgtgcac gttttctgtt taaataaatg taaaaactgc catctggcat
      541 cttccttcct tgattttaag tcttcagctt cttggccaac ttagtttgcc acagagattg
      601 ttcttttgct taagcccctt tggaatctcc catttggagg ggatttgtaa aggacactca
      661 gtccttgaac aggggaatgt ggcctcaagt gcacagacta gccttagtca tctccagttg
      721 aggctgggta tgaggggtac agacttggcc ctcacaccag gtaggttctg agacacttga
      781 agaagcttgt ggctcccaag ccacaagtag tcattcttag ccttgctttt gtaaagttag
      841 gtgacaagtt attccatgtg atgcttgtga gaattgagaa aatatgcatg gaaatatcca
      901 gatgaatttc ttacacagat tcttacggga tgcctaaatt gcatcctgta acttctgtcc
      961 aaaaagaaca ggatgatgta caaattgctc ttccaggtaa tccaccacgg ttaactggaa
     1021 aagcactttc agtctcctat aaccctccca ccagctgctg cttcaggtat aatgttacag
     1081 cagtttgcca aggcggggac ctaactggtg acaattgagc ctcttgactg gtactcagaa
     1141 tttagtgaca cgtggtcctg attttttttg gagacggggt cttgctctca cccaggctgg
     1201 gagtgcagtg gcacactgac tacagccttg acctccccag gctcaggtga tcttcccacc
     1261 tcagccttcc aagtagctgg gactacagat gcacacctcc aaacctgggt agtttttgaa
     1321 gtttttttgt agaggtggtc tagccatgtt gcctaggctc ccgaactcct gagctcaagc
     1381 aatcctgctt cagcctccca aagtactggg attacaggca tcttctgtag tatataggtc
     1441 atgagggata tgggatgtgg tacttatgag acagaaatgc ttacaggatg tttttctgta
     1501 accatcctgg tcaacttagc agaaatgctg cgctgggtat aataaagctt ttctacttct
     1561 agtctagaca ggaatcttac agattgtctc ctgttcaaaa cctagtcata aatatttata
     1621 atgcaaactg gtcatttttg ggattttgtt tttgagactc attctgtcac cccggctgga
     1681 gtgcagtggc ttgatcttgg ctccctgcaa cttctgcctc ctgggttcag gcgattcgat
     1741 taacaattgg agacgagtcg tgcagaggaa agaagtaact tagaatctaa tctttattaa
     1801 cctgggatat cacagaaaat acttgggcct gccacttgta tttctttgtc ctcaatactg
     1861 aacactagac acatttgaaa ccttcctcag aaggaaacaa accaactggt tatgcctggg
     1921 tggtggcatg gaagatgccc attgttgccc aatttgctaa taagtatttt gaaattagaa
     1981 atgaaacatg aggtccaagc ctgtccagtt ccctacccaa cccattcctc ctccctggaa
     2041 aaaagaaacc cgtatcatct tccaaatttc tgattcatca ctgccactta aaaa
//
LOCUS       NM_000996               1234 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L35a (RPL35A), transcript variant 2,
            mRNA.
ACCESSION   NM_000996
VERSION     NM_000996.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1234)
  AUTHORS   Gianferante MD, Wlodarski MW, Atsidaftos E, Da Costa L, Delaporta P,
            Farrar JE, Goldman FD, Hussain M, Kattamis A, Leblanc T, Lipton JM,
            Niemeyer CM, Pospisilova D, Quarello P, Ramenghi U, Sankaran VG,
            Vlachos A, Volejnikova J, Alter BP, Savage SA and Giri N.
  TITLE     Genotype-phenotype association and variant characterization in
            Diamond-Blackfan anemia caused by pathogenic variants in RPL35A
  JOURNAL   Haematologica 106 (5), 1303-1310 (2021)
   PUBMED   32241839
  REMARK    GeneRIF: Genotype-phenotype association and variant characterization
            in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1234)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1234)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1234)
  AUTHORS   Alkhunaizi E, Schrewe B, Alizadehfar R, Vezina C, Stewart GS and
            Braverman N.
  TITLE     Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia
            and immunodeficiency: Case report and review of literature
  JOURNAL   Am J Med Genet A 173 (6), 1514-1520 (2017)
   PUBMED   28432740
  REMARK    GeneRIF: We identified 85 overlapping deletions, of which six
            included the RPL35A gene and all should be had Diamond-Blackfan
            anemia (DBA).we sequenced the remaining RNF168 gene and examined her
            fibroblast culture for a DNA double strand break repair deficiency.
            These results were normal, indicating that the immunodeficiency is
            unlikely to result from a RNF168 deficiency.
REFERENCE   5  (bases 1 to 1234)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   6  (bases 1 to 1234)
  AUTHORS   Colombo P, Read M and Fried M.
  TITLE     The human L35a ribosomal protein (RPL35A) gene is located at
            chromosome band 3q29-qter
  JOURNAL   Genomics 32 (1), 148-150 (1996)
   PUBMED   8786106
REFERENCE   7  (bases 1 to 1234)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   8  (bases 1 to 1234)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301769
REFERENCE   9  (bases 1 to 1234)
  AUTHORS   Feo S, Davies B and Fried M.
  TITLE     The mapping of seven intron-containing ribosomal protein genes shows
            they are unlinked in the human genome
  JOURNAL   Genomics 13 (1), 201-207 (1992)
   PUBMED   1577483
REFERENCE   10  (bases 1 to 1234)
  AUTHORS   Herzog H, Hofferer L, Schneider R and Schweiger M.
  TITLE     cDNA encoding the human homologue of rat ribosomal protein L35a
  JOURNAL   Nucleic Acids Res 18 (15), 4600 (1990)
   PUBMED   2388839
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.66844.1,
            SRR5189658.88288.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000647248.2/ ENSP00000495672.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BC010949.1, BM972808.1 and AW575227.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 8, 2018 this sequence version replaced NM_000996.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L35AE family of ribosomal proteins. It is located in the
            cytoplasm. The rat protein has been shown to bind to both initiator
            and elongator tRNAs, and thus, it is located at the P site, or P
            and A sites, of the ribosome. Although this gene was originally
            mapped to chromosome 18, it has been established that it is located
            at 3q29-qter. Alternative splicing results in multiple transcript
            variants. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. [provided by RefSeq, Oct 2015].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1234
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q29"
     gene            1..1234
                     /gene="RPL35A"
                     /gene_synonym="DBA5; eL33; L35A"
                     /note="ribosomal protein L35a"
                     /db_xref="GeneID:6165"
                     /db_xref="HGNC:HGNC:10345"
                     /db_xref="MIM:180468"
     CDS             65..397
                     /gene="RPL35A"
                     /gene_synonym="DBA5; eL33; L35A"
                     /note="60S ribosomal protein L35a; cell growth-inhibiting
                     gene 33 protein"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL33"
                     /protein_id="NP_000987.2"
                     /db_xref="CCDS:CCDS33930.1"
                     /db_xref="GeneID:6165"
                     /db_xref="HGNC:HGNC:10345"
                     /db_xref="MIM:180468"
                     /translation="MSGRLWSKAIFAGYKRGLRNQREHTALLKIEGVYARDETEFYLGK
                     RCAYVYKAKNNTVTPGGKPNKTRVIWGKVTRAHGNSGMVRAKFRSNLPAKAIGHRIRVM
                     LYPSRI"
     misc_feature    86..88
                     /gene="RPL35A"
                     /gene_synonym="DBA5; eL33; L35A"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P18077.2); acetylation site"
     misc_feature    251..253
                     /gene="RPL35A"
                     /gene_synonym="DBA5; eL33; L35A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:O55142; propagated from
                     UniProtKB/Swiss-Prot (P18077.2); acetylation site"
     regulatory      416..421
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL35A"
                     /gene_synonym="DBA5; eL33; L35A"
                     /note="hexamer: AATAAA"
     polyA_site      441
                     /gene="RPL35A"
                     /gene_synonym="DBA5; eL33; L35A"
     regulatory      453..458
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL35A"
                     /gene_synonym="DBA5; eL33; L35A"
                     /note="hexamer: ATTAAA"
     polyA_site      475
                     /gene="RPL35A"
                     /gene_synonym="DBA5; eL33; L35A"
                     /note="major polyA site"
     regulatory      1214..1219
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL35A"
                     /gene_synonym="DBA5; eL33; L35A"
                     /note="hexamer: AATAAA"
     polyA_site      1234
                     /gene="RPL35A"
                     /gene_synonym="DBA5; eL33; L35A"
ORIGIN
        1 cttctcttac cgccatcttg gctcctgtgg aggcctgctg ggaacgggac ttctaaaagg
       61 aactatgtct ggaaggctgt ggtccaaggc catttttgct ggctataagc ggggtctccg
      121 gaaccaaagg gagcacacag ctcttcttaa aattgaaggt gtttacgccc gagatgaaac
      181 agaattctat ttgggcaaga gatgcgctta tgtatataaa gcaaagaaca acacagtcac
      241 tcctggcggc aaaccaaaca aaaccagagt catctgggga aaagtaactc gggcccatgg
      301 aaacagtggc atggttcgtg ccaaattccg aagcaatctt cctgctaagg ccattggaca
      361 cagaatccga gtgatgctgt acccctcaag gatttaaact aacgaaaaat caataaataa
      421 atgtggattt gtgctcttgt atttttaagt ggattaaaaa acttactacc ttaaattgat
      481 ttgctacatg cttaaaatga tagaggttgc tcagcatttt tggagtacaa gggggtcaga
      541 gagacatgtg atgaaaatta cagggcgagt acagagattt agaagggaac gggttttaat
      601 gcgagtatct ttgacagagt cttgctctgt tgcccatgct ggagtgtagt ggtgctcgct
      661 gcagcctcac attcaaaggc tcaagcaatc ctcccttggc ctttgaagta gctgggacca
      721 caggctcatg ccaccatccc tgggtcattt ttaaattttt tgtagagagg gtctgactct
      781 tgcctatgct ggcttcaaac tcctgggctc aagcaatcct ccttccttgg cctctcctga
      841 agtgctggga tacagttatg agccaccaca cctgccaagt gctttgtgat actatgcatt
      901 tgttcaatgc agattgggaa acttaaaatt tgaatggaga ttatgttgat gggctttggc
      961 agttcatttg gatagactgg gatgagaagc tcttgggact tgtgactgga caaagcattc
     1021 cagtatatta aaataaaatt aagccatatt actccactca taaaaagcaa tcctatggta
     1081 ggtacatgga ggttgggaat agtgcacgga aaggtggcag ctttctttgg cttcatgttt
     1141 taatctggta aagttcaaga ttgcacttta agcaggcctc ctaaatattt tagatttctt
     1201 ggggatatgc taaaataaaa caactaaggc atca
//
LOCUS       NM_000997               7573 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L37 (RPL37), transcript variant 1,
            mRNA.
ACCESSION   NM_000997
VERSION     NM_000997.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7573)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 7573)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   3  (bases 1 to 7573)
  AUTHORS   Daftuar L, Zhu Y, Jacq X and Prives C.
  TITLE     Ribosomal proteins RPL37, RPS15 and RPS20 regulate the Mdm2-p53-MdmX
            network
  JOURNAL   PLoS One 8 (7), e68667 (2013)
   PUBMED   23874713
  REMARK    GeneRIF: RPL37, RPS15 and RPS20 regulate the Mdm2-p53-MdmX network
            but employ different mechanisms to do so. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 7573)
  AUTHORS   Anger AM, Armache JP, Berninghausen O, Habeck M, Subklewe M, Wilson
            DN and Beckmann R.
  TITLE     Structures of the human and Drosophila 80S ribosome
  JOURNAL   Nature 497 (7447), 80-85 (2013)
   PUBMED   23636399
REFERENCE   5  (bases 1 to 7573)
  AUTHORS   Llanos S and Serrano M.
  TITLE     Depletion of ribosomal protein L37 occurs in response to DNA damage
            and activates p53 through the L11/MDM2 pathway
  JOURNAL   Cell Cycle 9 (19), 4005-4012 (2010)
   PUBMED   20935493
  REMARK    GeneRIF: Data report that depletion of L37 leads to cell cycle
            arrest in a MDM2/L11- and p53-dependent manner.
REFERENCE   6  (bases 1 to 7573)
  AUTHORS   Uechi T, Tanaka T and Kenmochi N.
  TITLE     A complete map of the human ribosomal protein genes: assignment of
            80 genes to the cytogenetic map and implications for human disorders
  JOURNAL   Genomics 72 (3), 223-230 (2001)
   PUBMED   11401437
REFERENCE   7  (bases 1 to 7573)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   8  (bases 1 to 7573)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 7573)
  AUTHORS   Su S and Bird RC.
  TITLE     Cell cycle, differentiation and tissue-independent expression of
            ribosomal protein L37
  JOURNAL   Eur J Biochem 232 (3), 789-797 (1995)
   PUBMED   7588717
REFERENCE   10  (bases 1 to 7573)
  AUTHORS   Barnard GF, Staniunas RJ, Puder M, Steele GD Jr and Chen LB.
  TITLE     Human ribosomal protein L37 has motifs predicting serine/threonine
            phosphorylation and a zinc-finger domain
  JOURNAL   Biochim Biophys Acta 1218 (3), 425-428 (1994)
   PUBMED   7545944
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.490308.1,
            SRR3476690.779581.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142680 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000274242.10/ ENSP00000274242.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AC008810.8.
            On or before Nov 30, 2018 this sequence version replaced
            NR_037665.1, NM_000997.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L37E family of ribosomal proteins. It is located in the
            cytoplasm. The protein contains a C2C2-type zinc finger-like motif.
            As is typical for genes encoding ribosomal proteins, there are
            multiple processed pseudogenes of this gene dispersed through the
            genome. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7573
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.1"
     gene            1..7573
                     /gene="RPL37"
                     /gene_synonym="eL37; L37"
                     /note="ribosomal protein L37"
                     /db_xref="GeneID:6167"
                     /db_xref="HGNC:HGNC:10347"
                     /db_xref="MIM:604181"
     CDS             38..331
                     /gene="RPL37"
                     /gene_synonym="eL37; L37"
                     /note="60S ribosomal protein L37; 60S ribosomal protein
                     L37a; G1.16"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL37"
                     /protein_id="NP_000988.1"
                     /db_xref="CCDS:CCDS3934.1"
                     /db_xref="GeneID:6167"
                     /db_xref="HGNC:HGNC:10347"
                     /db_xref="MIM:604181"
                     /translation="MTKGTSSFGKRRNKTHTLCRRCGSKAYHLQKSTCGKCGYPAKRKR
                     KYNWSAKAKRRNTTGTGRMRHLKIVYRRFRHGFREGTTPKPKRAAVAASSSS"
     misc_feature    65..67
                     /gene="RPL37"
                     /gene_synonym="eL37; L37"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P61927.2); acetylation site"
     misc_feature    323..325
                     /gene="RPL37"
                     /gene_synonym="eL37; L37"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P61927.2); phosphorylation site"
     misc_feature    326..328
                     /gene="RPL37"
                     /gene_synonym="eL37; L37"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P61927.2); phosphorylation site"
     regulatory      354..359
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL37"
                     /gene_synonym="eL37; L37"
                     /note="hexamer: AATAAA"
     polyA_site      379
                     /gene="RPL37"
                     /gene_synonym="eL37; L37"
                     /note="major polyA site"
     regulatory      6486..6491
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL37"
                     /gene_synonym="eL37; L37"
                     /note="hexamer: AATAAT"
     polyA_site      6510
                     /gene="RPL37"
                     /gene_synonym="eL37; L37"
     regulatory      7551..7556
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL37"
                     /gene_synonym="eL37; L37"
                     /note="hexamer: AATAAA"
     polyA_site      7573
                     /gene="RPL37"
                     /gene_synonym="eL37; L37"
ORIGIN
        1 ctcttccggt ctttctggtc tcggccgcag aagcgagatg acgaagggaa cgtcatcgtt
       61 tggaaagcgt cgcaataaga cgcacacgtt gtgccgccgc tgtggctcta aggcctacca
      121 ccttcagaag tcgacctgtg gcaaatgtgg ctaccctgcc aagcgcaaga gaaagtataa
      181 ctggagtgcc aaggctaaaa gacgaaatac caccggaact ggtcgaatga ggcacctaaa
      241 aattgtatac cgcagattca ggcatggatt ccgtgaagga acaacaccta aacccaagag
      301 ggcagctgtt gcagcatcca gttcatctta agaatgtcaa cgattagtca tgcaataaat
      361 gttctggttt taaaaaatac atatctggtt ttggtaaggt atttttaatc aattaggctt
      421 gtagtatcag tgaaatactg taggtttagg gactgggcta gcttcatatc agatttactt
      481 gttaagtgac tgttttggaa tgtttacttt tggactgggt ttgtaacacg gttaaaggca
      541 atgagaaaca agcagaattc caggagtcct tgaagcagag ggcactggaa gacaatatag
      601 cagattaaaa tagcacagct catgtggcat aggtgggtat tttagatgtt tgagtaaatt
      661 tgaaagagta tgatgtttaa attaccttta gcaacatgtt catctgctat gctgtcatga
      721 ctagggggat gattattagt cacatagagc ttgggagtac cactggaaac gtatgggtag
      781 gagtttaggt ggcttctgtt tttcaaaaga tgatcttatc ctagtatctg taatgctcac
      841 ttggcacacc tgacttgtgg gctgtgtgta aggtggctag ctaagtgaaa aaagcctgct
      901 aggtgtgagt caacttaaga atatgtaaat aggtttgaga aaaagtaggg cttgggtgca
      961 agtaaagatt gagcaggaaa taaaggaaaa tcaagtataa tccctgagat ttgtagacta
     1021 aaggcaatga tgtgggacta cttggtcgaa tttttttagc cctcaacttg gtaattgggt
     1081 gtttctgtgt taaagcactg aaacttgctg tcgtgccttc ctagttttcg tggtttattg
     1141 acagggttgg gggttttttt tgttttttta aaatgaaggg acaaagtcaa ctggactgct
     1201 gagtgagagg gcaggggcag ttgaagggaa catgaattgc tggaacagct acataaaata
     1261 gtgatgtagc caagtcatgc tatttaaatt ataattctcc actgtgttta gaataacatc
     1321 tgaggttctt aacctggcct tggaagggta tcacttttac ttgtaacctg gaatggcttt
     1381 ataatgtgct agctaattgc tactctcatc ttgtatttta actcctaatt tacccttcag
     1441 gtctcagctt cagaacattc acttataaag aaaccctgct gattaaatct ctcttgggct
     1501 tcctcccgaa atgtgagact atactttaaa gatgtatggt tagagtccaa ttgccattgc
     1561 ctttcttgtt tacagatagt gcaatggcgc aatcctggct cactgcagcc tctaattcct
     1621 gggctcaagt caagtggttc tcctgcctca gccttctgag tagctgggac tacagatgca
     1681 caccaccaca cctggctaat ttttgtgttt tttgtagaga tggagattca ctcgactaat
     1741 tctttttgta ttcttagtag agactgggtt tcaacatgtt gaccaggctg gtctcgaact
     1801 cgacctcgtg atccgccgcc tcggcctccc aaagtgctag gattacaggc gtgagccacc
     1861 actcccggct gtcatcatca aattttcaag tgaagatagt ctgttgaaga ttgaacaatg
     1921 accttgaaag acagctgagt tgctgtgggt ataatgtaaa gctggtgaag tttggccagt
     1981 ttgggcttca gaagtctaag tctagtgaag gtaccctgac ccccatataa acaacccttg
     2041 aggccggtgt ggtggctcac ggctgtaatc ctggcacttt gggaggccga ggtgggcgga
     2101 tcacaaggtc aagagatcga gatcaccctg gcccacatgg tgagacccca actctactaa
     2161 aaatacaaaa attagctggg tgtggtggca tgtgcctgta gtcttagcta cttgagaggc
     2221 tgaggcagga gaatcgcttg aacctgggag gcagaggttg cagtgagctg agatcatgcc
     2281 actgtgctcc agcctggtgg cacagtgaga ctccacctca aaaaaaaaaa aaaatccttg
     2341 aactaatgac tcaaattttc aaatgaaaca aaataagcag tggatcttgc attggagatg
     2401 gagttaaact atgttgccca ggctggtctt ggactcctgg tttcaagtga tcctctcatc
     2461 ttggcctccc aaagtgctgg gattacaggg acgagccacc acaccccacc tattgtctat
     2521 atttctatct ttaacagcac ttcagtcctg ccttaagtta tagttatgta tagataccca
     2581 ttatacttta aatttttcag cagaaattat gcttttatct tctctgcagt gttatatgtt
     2641 ggtgtgcaaa aatgttaaat ttatttttcc taagtacccc atctgctttt caactctgtc
     2701 ctctgcctga aaagcctccc tccagcccct acttccctcc catcttagtt cacaaagtca
     2761 ggttgatttg cccccagctg tcaaagcaga ctacctgttt ccacatgtaa ctggttatgt
     2821 tctgtaaagt tacaaaaata gaaaggttga atctgtggcg gccgggtacg gtagctcacg
     2881 tcctatagtc gcagcacttt gggaggccaa ggtgggcagt tcacgtgagg tggggagttc
     2941 gagaccagcc tgaccaacat ggagaaaccc cgtctctact aaaaatacaa aaatattagc
     3001 cgggcgtggt ggtgcatgcc tgtaatccca gctactaggg aggctgaggc aggagaattg
     3061 cttgaacctg ggagacggag gttgcggtga gctgcagagg cctcacctct aattgagaca
     3121 caattatata ttgttgatat atatatatat atatatacac acacacacac acactatgat
     3181 ggataaatgc atgagtttct gtgagagcat tggaaaggag tttgtcactc aataggtgaa
     3241 gccaggctaa gatttaagct gagccaggga ggacttgaag gaatcatgat gagagagaag
     3301 gtaagtggct ttgccagcaa tgaaacagct gacataatgg taaccagtca gaggagggca
     3361 taactatgaa actggacacc ttggttgtca ggttagaagg atggggtgta gggttggtaa
     3421 gaaaagaatt cagggaagag cagcgatcag attatgaaga atttgtcttg agaaattaca
     3481 gaggatttaa accagaatgt taggaatagt tattctagca agatgaatgt ggaaagtgtt
     3541 agtgtgcatg tgatgagtct tgaagctgga aactaggtaa caggttctta aatagttcat
     3601 gtgaaaatca tgacagacta aggcagtggc tgtggggctg tccgggagtt ctctacagaa
     3661 aacatctaaa acttgaatgt gcaagtgagt agctaacttc caagcttccc atttctgtat
     3721 aatttaagca tgaaaatgag aacactgaga tttgataggc atgtagaagt cagagtaagc
     3781 aagagggctt gagttcatcg atgaacttca gtaactatcc ttgacttagt attggtggaa
     3841 accatttgtg aatttacaga ctccaaaaac aaaaagataa tttagagtct caaagtaaga
     3901 tttggggaga tgtccattgg agacagaagt ggagagaggg agaagttcat ttgttgacat
     3961 atttatgtat ggtgcaccta ctgtgtgcca agccatgtta gagatacagt gggagcaaaa
     4021 ccagatgtgt tttctgccct ctgactccag tggttgcaga attagcccag gaactagaat
     4081 tggatggagt cacacaaacc aaggaagggg attgtttgag gggggcactc agtcacatgt
     4141 ggctgaggcc aaagagaatg aagatatatt ttaaaattct ggatttggca aaatttaggc
     4201 tagtctttac ttttcataaa cctctctcat gttagagcag caaagaaaaa ccagtttgcc
     4261 aagaggtcac gagattgggc agtgaggaat ggggagttta gtttaaaaga caacactaga
     4321 tacttttgga agtttaccta ttctgtggtt cccttttatt gactaaatgg tgcccttcat
     4381 tcatgaagca agtatctatt tagtgactac tatgtgtcaa aagctatcta ggcccagaaa
     4441 cttttaagtg gaaaacaaaa caaagaccct gccctgacag atttcaatca tgtatatact
     4501 gtatgtatgt ttgtggaagg tgacataata gacaattgca gatagtgata agtgtgtaag
     4561 acaaggatac cacgagcgta atagacagtg gggatggagg aacctttaga aggttggtta
     4621 agttgaatga taaggagcca ttcttttgtc tttacctgaa tgacttatca ttcagccctt
     4681 tttgagtttt gggttgcttg cagagtttaa ccttgcctgt aattgaaact taattttgta
     4741 atagcataac ttcatgtaag aaaagcaaag caatacatta cagaattatt ttactgaaga
     4801 acttgtttca gagaaagagg ctgtttcaca tttattagca catttggatt atatttaggt
     4861 gttttatttt tttttaaaca aaggagtttg gatcataata caagagaagc acagggcaaa
     4921 gacactgcat aacctcaaga actaagaatg gaaggactgg ccaggcctgg tggtgcacac
     4981 ctgtaatccc agctactcag gaggctgagg cgagagaatc gcttgagcct ggggggcaga
     5041 ggttgcagtg agctgagaga acggcgggcg gcagagcgag actccatctc aaaaaaaaaa
     5101 aaggataaag gaaggactta agcaaaatct tccttgtaag tagaaggatg ttttgacaag
     5161 aaaagttgca atggaaaaat ggttctcatg tacacgagta tgtagaataa gcatcgtgtg
     5221 tggattggat tcagatcaaa acattgcttt tatgtttgtg tctttatacg gtgggagtat
     5281 accctggtgc cccaggatga agacttgacc tgacccatgt atttttagat tactcacaga
     5341 taacaaaaag tattttcatc atgattagtt gcgaaaacag ttttatttca ataggtaaaa
     5401 cgtgcagtcc tatgtaatcg tcagaaggta atcttaatta tagcttgggt gtgctttaaa
     5461 ctgcaagctg gcagtggagg gcacgattcc tctgatttca gctttctcct tatacttttc
     5521 tggagctgtg agctgcaagt taactcagtg ggattaaagt gtagactgga ggtacaaaag
     5581 gtgaggagtg aggagatagg gtagttcttc cttggctggc tggcttcata atccctgggc
     5641 cccgcagata attaaatcga ctttttctgt ctcaggcatt tgtatgacct ctttggaggt
     5701 tccctgctgg gtagttatcc ttgtatctga tggacccatc tcaatttaaa atactctgcc
     5761 aggttcggag gttcatgctt gtcatcccag cactttggga ggctcagagg tgccattggc
     5821 ttgagcccaa gagtttgaga ccagcctggg caacctggtg aaacctcttc tccattaaaa
     5881 atacaaaaaa ttagccaggc atggtggtat gtgcctgtag tcccagctac tcagggagct
     5941 gaggtggaag gattgcttga gcctgggagg tcaaggctgc agtgaacctt gattgtgcca
     6001 ctgcactcca gcctggatga caaagaccct gtctcaagaa aagtctgtaa ttctttccta
     6061 acccttagta tccagcctca gtcctgaggt tttctttacc tctgggggct attttatgcc
     6121 ggctctctcc tgagtgtcac acatctggtc ctcaggaaac attctcacat ccctggcctg
     6181 aaaaaaacaa tttcagggag atcgcatggc agcagccctc tctgggctcc ccagctaaat
     6241 ggttgtacga aacacatttc aaagctctct gaagggcttc cttgaagttc ctttcactgg
     6301 gtttcaaagt agaaggtagt aactcctttg tccaagaagg ctgaattgag cacttaacaa
     6361 ttctccaaag aaatttcttc attggtctct atcctagacc ccttctgtat ccttgatatg
     6421 gctgaggatt ctaaaaaatg accagtctta catgggaggg ctgggatata aaaaataaaa
     6481 taataaataa tgataaaaac tgaaaactga ccacgttctt ggatatgttt tctttgggtt
     6541 gtgtgtgtgt gtgagacttt tgatagttac ccaaagtagg aaaaatccca ttctaataag
     6601 gttatattta tgtagctctg caaataaaca tctagcaaat gtaaaaagta ttttctttgc
     6661 cttaaaaatg attaaaatta tttgaactcc tgaggagtgt tatatgaata aaattagtaa
     6721 gttatttgga ggaaagttat tttttaaaaa gacaactggt aaaacagtac aggagaaagg
     6781 ccagcttcct caagtgagga cagttgttta gaattgactg aggagcggcc gggtgcggag
     6841 gctcacatct gtaatcccac acgccttggg aggctctgag gcgggtagat cacctgaggt
     6901 caggagtttg agaccagcct ggccaacatg gcgaaacccc gtctccacta aaaatacaaa
     6961 aattagccag gtgcagtggc acacacctgt aatcccagct actccgaagg ctgaggcagg
     7021 aggatcacct gagcccagga agttgagact gcagtgagct gagattgcac cactgcactc
     7081 cagcctcagt gacagcgaga ctgtctcaaa aaaagaaaaa agtgactgag gaggaagagg
     7141 ccaggtggca aatggaacag aatcaccaaa gggtgaacag gactaaggca atgtagtgta
     7201 tggctcagct acgtcagagt ggaaaaggtg ttattagagc agaaactatg gtccctgcgt
     7261 cacagggaag caacctacag agaagcagca gctccccaag agaggagaga taagaagcca
     7321 gaagcctcag agtgaacaat tgtcctatta gggattgctc tagagagaga aacctctggg
     7381 aacgtacccc tgtgaggcag cacagcacaa tgcttttaga attgtatgag agttgatata
     7441 tctccatttg ttttgcaaag gcaaaaacta agatacagag attatctgtt aaagttatgt
     7501 atttctttgg taataaagat gctgacagtg ttgctggaat gcatttcttt aataaagata
     7561 ttgtacaatg aaa
//
LOCUS       NM_000998               2992 bp    mRNA    linear   PRI 14-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L37a (RPL37A), mRNA.
ACCESSION   NM_000998
VERSION     NM_000998.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2992)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2992)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2992)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2992)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   5  (bases 1 to 2992)
  AUTHORS   Anger AM, Armache JP, Berninghausen O, Habeck M, Subklewe M, Wilson
            DN and Beckmann R.
  TITLE     Structures of the human and Drosophila 80S ribosome
  JOURNAL   Nature 497 (7447), 80-85 (2013)
   PUBMED   23636399
REFERENCE   6  (bases 1 to 2992)
  AUTHORS   Odintsova TI, Muller EC, Ivanov AV, Egorov TA, Bienert R, Vladimirov
            SN, Kostka S, Otto A, Wittmann-Liebold B and Karpova GG.
  TITLE     Characterization and analysis of posttranslational modifications of
            the human large cytoplasmic ribosomal subunit proteins by mass
            spectrometry and Edman sequencing
  JOURNAL   J Protein Chem 22 (3), 249-258 (2003)
   PUBMED   12962325
REFERENCE   7  (bases 1 to 2992)
  AUTHORS   Uechi T, Tanaka T and Kenmochi N.
  TITLE     A complete map of the human ribosomal protein genes: assignment of
            80 genes to the cytogenetic map and implications for human disorders
  JOURNAL   Genomics 72 (3), 223-230 (2001)
   PUBMED   11401437
REFERENCE   8  (bases 1 to 2992)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 2992)
  AUTHORS   Saha DP, Tirumalai PS, Scala LA and Howells RD.
  TITLE     Human ribosomal protein L37a: cloning of the cDNA and analysis of
            differential gene expression in tissues and cell lines
  JOURNAL   Gene 132 (2), 285-289 (1993)
   PUBMED   8224875
REFERENCE   10  (bases 1 to 2992)
  AUTHORS   Hoof T, Fislage R and Tummler B.
  TITLE     Primary sequence of the human ribosomal protein L37a
  JOURNAL   Nucleic Acids Res 20 (20), 5475 (1992)
   PUBMED   1437567
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC067789.1, AU118260.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000491306.6/ ENSP00000418082.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from CD249666.1, L06499.1, BC014262.2 and AC073321.4.
            On May 17, 2019 this sequence version replaced NM_000998.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L37AE family of ribosomal proteins. It is located in the
            cytoplasm. The protein contains a C4-type zinc finger-like domain.
            As is typical for genes encoding ribosomal proteins, there are
            multiple processed pseudogenes of this gene dispersed through the
            genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2992
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..2992
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
                     /note="ribosomal protein L37a"
                     /db_xref="GeneID:6168"
                     /db_xref="HGNC:HGNC:10348"
                     /db_xref="MIM:613314"
     misc_feature    1
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
                     /note="predominant transcription initiation site"
     CDS             32..310
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
                     /note="60S ribosomal protein L37a"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL43"
                     /protein_id="NP_000989.1"
                     /db_xref="CCDS:CCDS2404.1"
                     /db_xref="GeneID:6168"
                     /db_xref="HGNC:HGNC:10348"
                     /db_xref="MIM:613314"
                     /translation="MAKRTKKVGIVGKYGTRYGASLRKMVKKIEISQHAKYTCSFCGKT
                     KMKRRAVGIWHCGSCMKTVAGGAWTYNTTSAVTVKSAIRRLKELKDQ"
     misc_feature    146..238
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
                     /note="Region: C4-type zinc finger domain"
     regulatory      346..351
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
                     /note="hexamer: AATAAA"
     polyA_site      373
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
                     /note="major polyA site"
     polyA_site      458
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
     regulatory      512..517
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
                     /note="hexamer: AATATA"
     polyA_site      531
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
     regulatory      1351..1356
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
                     /note="hexamer: ATTAAA"
     polyA_site      1369
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
     regulatory      1669..1674
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
                     /note="hexamer: AGTAAA"
     polyA_site      1687
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
     polyA_site      2296
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
     polyA_site      2301
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
     regulatory      2962..2967
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
                     /note="hexamer: TATAAA"
     polyA_site      2992
                     /gene="RPL37A"
                     /gene_synonym="eL43; L37A"
ORIGIN
        1 ctttctgggc tcggacctag gtcgcggcga catggccaaa cgtaccaaga aagtcgggat
       61 cgtcggtaaa tacgggaccc gctatggggc ctccctccgg aaaatggtga agaaaattga
      121 aatcagccag cacgccaagt acacttgctc tttctgtggc aaaaccaaga tgaagagacg
      181 agctgtgggg atctggcact gtggttcctg catgaagaca gtggctggcg gtgcctggac
      241 gtacaatacc acttccgctg tcacggtaaa gtccgccatc agaagactga aggagttgaa
      301 agaccagtag acgctcctct actctttgag acatcactgg cctataataa atgggttaat
      361 ttatgtaaca aaattgcctt ggcttgttaa ctttattaga cattctgatg tttgcattgt
      421 gtaaatactg ttgtattgga aaagcatgcc aagatggatt attgtaattc agtgtctttt
      481 ttagtagtca aatggtaaaa tgcagcataa gaatataagt cttccaagtt agatatgagt
      541 gttagctttt tataagtctg ctcctgccag tttgactttg agatacattg gagccaactg
      601 taaactttag tttttaaatt acagttagtt tttttgtttg tttttgaggc ggagtctctg
      661 ttacccaggc tggagtgcag tataccagtc ttggcccact tcaacctcca cttcttaggt
      721 tcaagcgatt ctcctgcctc agcctcctga gtagctggga ttacaggcac gcaccaccat
      781 acctggctaa tttttgtatt ttgagtagag atggagtttt caccacattg gccaggctgt
      841 tcttgaactg acctcaagcg atccacctgc cttggccttc cagagtgctg ggattacagg
      901 tgtgagccac cacgcccagc cttgcattta atatttttat aatgtgtcta ggctgggtgc
      961 ggtgactcac gcctgaaatc ccagcacttt gggtggctga ggcaggtgga ttacttgagg
     1021 ccaggagatt gagaccagtg tggccaacat agcaaaaacc cgtctcgacg aaaaatacaa
     1081 aaaatagctt ggtatggtgg cacatgcctg taatcccagc tactttggag gctcaggcac
     1141 aagaatcact tgaacctacg aggcggaggt tgcagtgggc caggatcgtg ccactgcact
     1201 ttatttagcc aggacaacac tctgtctcca aaaaaaagtt tctgaaggta aaagatatac
     1261 taaaggatat acatatactg cctcttctat gatgtttcat ttgacctaca ccatcagcat
     1321 cttcaggaaa cagtatgaaa ctaatttcac attaaatgtt gcaaacgtct gcaattctcc
     1381 agtttttagt ttgcacgtaa ggattcgtag gattgatttc agattgacag atggttgtag
     1441 taacaaaaaa atgaattgcc ttggagaatt cgagttattt taggcctgcc tttgacactt
     1501 ttatgcactt aattcactgc caatttagtc taactcctca accatctgtg gtatggactt
     1561 ctcagtcctc ctaattggta tgtcttttat ctatcccaga gtcagtagtc ctttaaggat
     1621 gcaaatttaa ttcgataaga atgtggattt acttcatctt taggacagag taaaaacctt
     1681 tatttcactt ggtctgaccc ctatcttcta taacttgttt ttttgctcat tactggcctt
     1741 tgcacggatg tctcccttca cctgtacctc ctgcattgcc tctggcagaa acatcgctac
     1801 cccaggagaa tacttcactg ggtcaggcat ttgctagatc catagcagta actcatctgt
     1861 ggatctcatt tgtgtcacaa aatggtactc ctactgattt tgtaatgtga agcaagtact
     1921 gtgggtcagt aggggtagga ccaggagtga caagtcagga ttttcaggct tcataggaat
     1981 gacacagctc tccaggtgaa tctcctggag aattctccat aggatctcca ggtgagtgac
     2041 caggatttca tgtaagcata gggaattgaa tgagcattag atggtctaat gctgcggtta
     2101 agaacaccaa cttagccaaa ctgcctagat agttgggtga cttgggttaa gtgacttaac
     2161 ctctctgctt cagtttcctg tataattctt ggtagtagaa tggagtatat gctgggtgtt
     2221 tggattatta atttggagtc ttacaaagct gctatgttac atgattaggc atggaaaact
     2281 tcggttttta taatcagtga agtactgctt tttgtttgtt ttctgagaga gtgtctgtca
     2341 cccaggctga agtgcagtgg catgatctca gttcactgca gcctctacct cccgggttca
     2401 agcagttctc gtgcctcagc ctccgaagta gctgggatta caggcttatg ccacaaagct
     2461 cagctagttt ttgtattttt tatttttagt agagatgggc tttcgccatg ttgaccaggc
     2521 tggtctcaaa ctcccaggct caactgataa cgtctgcctt ggcctcccaa agtgctggga
     2581 ttctgtaagc cacctcaccc agccatgtat tgctttttta tgacagttaa aagaggaaag
     2641 ggcgggggac agtttacaga ccagtgaaag tgctgagata aatattttta tacctaagga
     2701 aatagtgatt ttcccaagat gatagggagg caggtgatgt agatagggct gaagattaga
     2761 tttctggctc ctatctgtga ttttctgctg taccagtctg ccttctattt tatgggctca
     2821 gtattcctta cctgcctctt cccatgctaa agatggccca ccttcgtttt gttatttaag
     2881 caacttcatc ccctggcttg ttttcacagt ggttttctga gcctttgact ctaagtcatc
     2941 taattgaaca ttgtgttgtg atataaaaag taagttaggc ttgtgttttt ca
//
LOCUS       NM_000999               1145 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L38 (RPL38), transcript variant 1,
            mRNA.
ACCESSION   NM_000999
VERSION     NM_000999.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1145)
  AUTHORS   Gopanenko AV, Kolobova AV, Meschaninova MI, Venyaminova AG, Tupikin
            AE, Kabilov MR, Malygin AA and Karpova GG.
  TITLE     Knockdown of the mRNA encoding the ribosomal protein eL38 in
            mammalian cells causes a substantial reorganization of genomic
            transcription
  JOURNAL   Biochimie 184, 132-142 (2021)
   PUBMED   33675855
  REMARK    GeneRIF: Knockdown of the mRNA encoding the ribosomal protein eL38
            in mammalian cells causes a substantial reorganization of genomic
            transcription.
REFERENCE   2  (bases 1 to 1145)
  AUTHORS   Gopanenko AV, Kolobova AV, Tupikin AE, Kabilov MR, Malygin AA and
            Karpova GG.
  TITLE     Knockdown of the Ribosomal Protein eL38 in HEK293 Cells Changes the
            Translational Efficiency of Specific Genes
  JOURNAL   Int J Mol Sci 22 (9), 4531 (2021)
   PUBMED   33926116
  REMARK    GeneRIF: Knockdown of the Ribosomal Protein eL38 in HEK293 Cells
            Changes the Translational Efficiency of Specific Genes. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 1145)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1145)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1145)
  AUTHORS   Behrmann E, Loerke J, Budkevich TV, Yamamoto K, Schmidt A, Penczek
            PA, Vos MR, Burger J, Mielke T, Scheerer P and Spahn CM.
  TITLE     Structural snapshots of actively translating human ribosomes
  JOURNAL   Cell 161 (4), 845-857 (2015)
   PUBMED   25957688
REFERENCE   6  (bases 1 to 1145)
  AUTHORS   Yoshihama M, Uechi T, Asakawa S, Kawasaki K, Kato S, Higa S, Maeda
            N, Minoshima S, Tanaka T, Shimizu N and Kenmochi N.
  TITLE     The human ribosomal protein genes: sequencing and comparative
            analysis of 73 genes
  JOURNAL   Genome Res 12 (3), 379-390 (2002)
   PUBMED   11875025
REFERENCE   7  (bases 1 to 1145)
  AUTHORS   Uechi T, Tanaka T and Kenmochi N.
  TITLE     A complete map of the human ribosomal protein genes: assignment of
            80 genes to the cytogenetic map and implications for human disorders
  JOURNAL   Genomics 72 (3), 223-230 (2001)
   PUBMED   11401437
REFERENCE   8  (bases 1 to 1145)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   9  (bases 1 to 1145)
  AUTHORS   Espinosa L, Martin M, Nicolas A, Fabre M and Navarro E.
  TITLE     Primary sequence of the human, lysine-rich, ribosomal protein RPL38
            and detection of an unusual RPL38 processed pseudogene in the
            promoter region of the type-1 angiotensin II receptor gene
  JOURNAL   Biochim Biophys Acta 1354 (1), 58-64 (1997)
   PUBMED   9375793
REFERENCE   10  (bases 1 to 1145)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.54255.1, CD390038.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000311111.11/ ENSP00000309830.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BQ276548.1, Z26876.1, CB124619.1 and AC100786.2.
            On Nov 23, 2018 this sequence version replaced NM_000999.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L38E family of ribosomal proteins. It is located in the
            cytoplasm. Alternative splice variants have been identified, both
            encoding the same protein. As is typical for genes encoding
            ribosomal proteins, there are multiple processed pseudogenes of
            this gene dispersed through the genome, including one located in
            the promoter region of the type 1 angiotensin II receptor gene.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) is the longer and predominant
            transcript. Variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1145
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..1145
                     /gene="RPL38"
                     /gene_synonym="eL38; L38"
                     /note="ribosomal protein L38"
                     /db_xref="GeneID:6169"
                     /db_xref="HGNC:HGNC:10349"
                     /db_xref="MIM:604182"
     misc_feature    1
                     /gene="RPL38"
                     /gene_synonym="eL38; L38"
                     /note="predominant transcription initiation site"
     misc_feature    50..52
                     /gene="RPL38"
                     /gene_synonym="eL38; L38"
                     /note="upstream in-frame stop codon"
     CDS             107..319
                     /gene="RPL38"
                     /gene_synonym="eL38; L38"
                     /note="60S ribosomal protein L38"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL38"
                     /protein_id="NP_000990.1"
                     /db_xref="CCDS:CCDS11696.1"
                     /db_xref="GeneID:6169"
                     /db_xref="HGNC:HGNC:10349"
                     /db_xref="MIM:604182"
                     /translation="MPRKIEEIKDFLLTARRKDAKSVKIKKNKDNVKFKVRCSRYLYTL
                     VITDKEKAEKLKQSLPPGLAVKELK"
     misc_feature    131..133
                     /gene="RPL38"
                     /gene_synonym="eL38; L38"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P63173.2); acetylation site"
     misc_feature    305..307
                     /gene="RPL38"
                     /gene_synonym="eL38; L38"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P63173.2); acetylation site"
     regulatory      349..354
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL38"
                     /gene_synonym="eL38; L38"
                     /note="hexamer: ATTAAA"
     polyA_site      370
                     /gene="RPL38"
                     /gene_synonym="eL38; L38"
                     /note="major polyA site"
     regulatory      1122..1127
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL38"
                     /gene_synonym="eL38; L38"
                     /note="hexamer: CATAAA"
     polyA_site      1145
                     /gene="RPL38"
                     /gene_synonym="eL38; L38"
ORIGIN
        1 ctttttcgtc cttttccccg gttgctgctt gctgtgagtg tctctagggt gatacgtggg
       61 tgagaaaggt cctggtccgc gccagagccc agcgcgcctc gtcgccatgc ctcggaaaat
      121 tgaggaaatc aaggacttcc tgctcacagc ccgacgaaag gatgccaaat ctgtcaagat
      181 caagaaaaat aaggacaacg tgaagtttaa agttcgatgc agcagatacc tttacaccct
      241 ggtcatcact gacaaagaga aggcagagaa actgaagcag tccctgcccc ccggtttggc
      301 agtgaaggaa ctgaaatgaa ccagacacac tgattggaac tgtattatat taaaatacta
      361 aaaatcctaa gtgtctttcg tctttgcgga tgggaaaggg aaaaatgcta cctcgtagtg
      421 gcttctgatg ggaacaggac gcgggttctg ttgctgcctt cctgtgtctt tttttttttt
      481 tttttttctt tctttgagac ggagtcttgc tctgtggctc atcctggagc acagtggtgc
      541 gatatcagct cactaccacc tccgcctcct gggttcaagc gactgtcctg cctcagcctc
      601 ccgagtggct gggattacag gcacacatca ccacgcctgg ccaatttttg tatttgtagt
      661 agagacaggg tttcactgcc tgcctcagcc tcccatagtg ctgggattac aggcatgagc
      721 ctccgtgccc ggtgcatccc taatcttgag catgatctca gtcggcaaat gaggccatct
      781 gttttcagcc tgtttgaaaa taagatgtgg ggaggccatg atggaaatag cacgtggggt
      841 taaacataac tggcagatgt gggagcgatg gtggggcatg ccattcaaac aggtcccaaa
      901 atgggtgcaa caaggtatag cacatctacc actcgctaac ttgactgact tggagaaatg
      961 actacacttt tgcctgtttc ctcagttgga aaatagccat attaacacct ctttcattgg
     1021 cttgctgtca gggtactggg atggggggag gtgcatgggt tggggtggcc accaggtggt
     1081 gctgtgccac agcgggcagc ccctctggaa atgactggca tcataaaatc tgtcttcata
     1141 cccga
//
LOCUS       NM_001000                390 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L39 (RPL39), mRNA.
ACCESSION   NM_001000
VERSION     NM_001000.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 390)
  AUTHORS   Sun F, Wei Y, Liu Z, Jie Q, Yang X, Long P, Wang J, Xiong Y, Li Q,
            Quan S and Ma Y.
  TITLE     Acylglycerol kinase promotes ovarian cancer progression and
            regulates mitochondria function by interacting with ribosomal
            protein L39
  JOURNAL   J Exp Clin Cancer Res 41 (1), 238 (2022)
   PUBMED   35934718
  REMARK    GeneRIF: Acylglycerol kinase promotes ovarian cancer progression and
            regulates mitochondria function by interacting with ribosomal
            protein L39. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 390)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 390)
  AUTHORS   Dave B, Gonzalez DD, Liu ZB, Li X, Wong H, Granados S, Ezzedine NE,
            Sieglaff DH, Ensor JE, Miller KD, Radovich M, KarinaEtrovic A, Gross
            SS, Elemento O, Mills GB, Gilcrease MZ and Chang JC.
  TITLE     Role of RPL39 in Metaplastic Breast Cancer
  JOURNAL   J Natl Cancer Inst 109 (6), 2758642 (2016)
   PUBMED   28040796
  REMARK    GeneRIF: RPL39 mediated its cancer-promoting actions through iNOS
            signaling, which was driven by the RNA editing enzyme adenosine
            deaminase acting on RNA 1. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 390)
  AUTHORS   Behrmann E, Loerke J, Budkevich TV, Yamamoto K, Schmidt A, Penczek
            PA, Vos MR, Burger J, Mielke T, Scheerer P and Spahn CM.
  TITLE     Structural snapshots of actively translating human ribosomes
  JOURNAL   Cell 161 (4), 845-857 (2015)
   PUBMED   25957688
REFERENCE   5  (bases 1 to 390)
  AUTHORS   Dave B, Granados-Principal S, Zhu R, Benz S, Rabizadeh S,
            Soon-Shiong P, Yu KD, Shao Z, Li X, Gilcrease M, Lai Z, Chen Y,
            Huang TH, Shen H, Liu X, Ferrari M, Zhan M, Wong ST, Kumaraswami M,
            Mittal V, Chen X, Gross SS and Chang JC.
  TITLE     Targeting RPL39 and MLF2 reduces tumor initiation and metastasis in
            breast cancer by inhibiting nitric oxide synthase signaling
  JOURNAL   Proc Natl Acad Sci U S A 111 (24), 8838-8843 (2014)
   PUBMED   24876273
  REMARK    GeneRIF: RPL39 and MLF2 have roles in tumor initiation and
            metastasis in breast cancer that involve nitric oxide synthase
            signaling
REFERENCE   6  (bases 1 to 390)
  AUTHORS   Yoshihama M, Uechi T, Asakawa S, Kawasaki K, Kato S, Higa S, Maeda
            N, Minoshima S, Tanaka T, Shimizu N and Kenmochi N.
  TITLE     The human ribosomal protein genes: sequencing and comparative
            analysis of 73 genes
  JOURNAL   Genome Res 12 (3), 379-390 (2002)
   PUBMED   11875025
REFERENCE   7  (bases 1 to 390)
  AUTHORS   Uechi T, Tanaka T and Kenmochi N.
  TITLE     A complete map of the human ribosomal protein genes: assignment of
            80 genes to the cytogenetic map and implications for human disorders
  JOURNAL   Genomics 72 (3), 223-230 (2001)
   PUBMED   11401437
REFERENCE   8  (bases 1 to 390)
  AUTHORS   Tsui SK, Lee SM, Fung KP, Waye MM and Lee CY.
  TITLE     Primary structures and sequence analysis of human ribosomal proteins
            L39 and S27
  JOURNAL   Biochem Mol Biol Int 40 (3), 611-616 (1996)
   PUBMED   8908372
REFERENCE   9  (bases 1 to 390)
  AUTHORS   Otsuka S, Tanaka M, Saito S, Yoshimoto K and Itakura M.
  TITLE     Molecular cloning of a cDNA encoding human ribosomal protein L39
  JOURNAL   Biochim Biophys Acta 1308 (2), 119-121 (1996)
   PUBMED   8764829
REFERENCE   10  (bases 1 to 390)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.98803.1,
            SRR5189661.155159.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000361575.4/ ENSP00000355315.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BX476041.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001000.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the S39E family of ribosomal proteins. It is located in the
            cytoplasm. In rat, the protein is the smallest, and one of the most
            basic, proteins of the ribosome. This gene is co-transcribed with
            the U69 small nucleolar RNA gene, which is located in its second
            intron. As is typical for genes encoding ribosomal proteins, there
            are multiple processed pseudogenes of this gene dispersed through
            the genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..390
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     gene            1..390
                     /gene="RPL39"
                     /gene_synonym="eL39; L39; RPL39P42; RPL39_23_1806"
                     /note="ribosomal protein L39"
                     /db_xref="GeneID:6170"
                     /db_xref="HGNC:HGNC:10350"
                     /db_xref="MIM:300899"
     CDS             55..210
                     /gene="RPL39"
                     /gene_synonym="eL39; L39; RPL39P42; RPL39_23_1806"
                     /note="60S ribosomal protein L39"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL39"
                     /protein_id="NP_000991.1"
                     /db_xref="CCDS:CCDS14586.1"
                     /db_xref="GeneID:6170"
                     /db_xref="HGNC:HGNC:10350"
                     /db_xref="MIM:300899"
                     /translation="MSSHKTFRIKRFLAKKQKQNRPIPQWIRMKTGNKIRYNSKRRHWR
                     RTKLGL"
     regulatory      363..368
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL39"
                     /gene_synonym="eL39; L39; RPL39P42; RPL39_23_1806"
                     /note="hexamer: AATAAA"
     polyA_site      390
                     /gene="RPL39"
                     /gene_synonym="eL39; L39; RPL39P42; RPL39_23_1806"
                     /note="major polyA site"
ORIGIN
        1 ccctcctctt cctttctccg ccatcgtggt gtgttcttga ctccgctgct cgccatgtct
       61 tctcacaaga ctttcaggat taagcgattc ctggccaaga aacaaaagca aaatcgtccc
      121 attccccagt ggattcggat gaaaactgga aataaaatca ggtacaactc caaaaggaga
      181 cattggagaa gaaccaagct gggtctataa ggaattgcac atgagatggc acacatattt
      241 atgctgtctg aaggtcacga tcatgttacc atatcaagct gaaaatgtca ccactatctg
      301 gagatttcga cgtgttttcc tctctgaatc tgttatgaac acgttggttg gctggattca
      361 gtaataaata tgtaaggcct ttctttttaa
//
LOCUS       NM_001001                676 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L36a like (RPL36AL), mRNA.
ACCESSION   NM_001001
VERSION     NM_001001.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 676)
  AUTHORS   Guo Z, Neilson LJ, Zhong H, Murray PS, Zanivan S and Zaidel-Bar R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 676)
  AUTHORS   Balasubramanian S, Zheng D, Liu YJ, Fang G, Frankish A, Carriero N,
            Robilotto R, Cayting P and Gerstein M.
  TITLE     Comparative analysis of processed ribosomal protein pseudogenes in
            four mammalian genomes
  JOURNAL   Genome Biol 10 (1), R2 (2009)
   PUBMED   19123937
REFERENCE   3  (bases 1 to 676)
  AUTHORS   Uechi T, Maeda N, Tanaka T and Kenmochi N.
  TITLE     Functional second genes generated by retrotransposition of the
            X-linked ribosomal protein genes
  JOURNAL   Nucleic Acids Res 30 (24), 5369-5375 (2002)
   PUBMED   12490704
REFERENCE   4  (bases 1 to 676)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   5  (bases 1 to 676)
  AUTHORS   Feo S, Davies B and Fried M.
  TITLE     The mapping of seven intron-containing ribosomal protein genes shows
            they are unlinked in the human genome
  JOURNAL   Genomics 13 (1), 201-207 (1992)
   PUBMED   1577483
REFERENCE   6  (bases 1 to 676)
  AUTHORS   Gallagher MJ, Chan YL, Lin A and Wool IG.
  TITLE     Primary structure of rat ribosomal protein L36a
  JOURNAL   DNA 7 (4), 269-273 (1988)
   PUBMED   3396452
REFERENCE   7  (bases 1 to 676)
  AUTHORS   Davies,M.S., Henney,A., Ward,W.H. and Craig,R.K.
  TITLE     Characterisation of an mRNA encoding a human ribosomal protein
            homologous to the yeast L44 ribosomal protein
  JOURNAL   Gene 45 (2), 183-191 (1986)
   PUBMED   3542712
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.535149.1, CD520830.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000298289.7/ ENSP00000346012.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY121971.1, BM973694.1 and
            AL139099.3.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001001.4.
            Summary: Cytoplasmic ribosomes, organelles that catalyze protein
            synthesis, consist of a small 40S subunit and a large 60S subunit.
            Together these subunits are composed of 4 RNA species and
            approximately 80 structurally distinct proteins. This gene encodes
            a ribosomal protein that is a component of the 60S subunit. The
            protein, which shares sequence similarity with yeast ribosomal
            protein L44, belongs to the L44E (L36AE) family of ribosomal
            proteins. This gene and the human gene officially named ribosomal
            protein L36a (RPL36A) encode nearly identical proteins; however,
            they are distinct genes. Although the name of this gene has been
            referred to as ribosomal protein L36a (RPL36A), its official name
            is ribosomal protein L36a-like (RPL36AL). As is typical for genes
            encoding ribosomal proteins, there are multiple processed
            pseudogenes of this gene dispersed through the genome. [provided by
            RefSeq, Jul 2008].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..676
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q21.3"
     gene            1..676
                     /gene="RPL36AL"
                     /gene_synonym="RPL36A; RPL36AP42; RPL36A_18_1363"
                     /note="ribosomal protein L36a like"
                     /db_xref="GeneID:6166"
                     /db_xref="HGNC:HGNC:10346"
                     /db_xref="MIM:180469"
     misc_feature    6..8
                     /gene="RPL36AL"
                     /gene_synonym="RPL36A; RPL36AP42; RPL36A_18_1363"
                     /note="upstream in-frame stop codon"
     CDS             102..422
                     /gene="RPL36AL"
                     /gene_synonym="RPL36A; RPL36AP42; RPL36A_18_1363"
                     /note="60S ribosomal protein L36a-like; ribosomal protein
                     HL44; large ribosomal subunit protein eL42-like; ribosomal
                     protein L36a pseudogene 42"
                     /codon_start=1
                     /product="ribosomal protein eL42-like"
                     /protein_id="NP_000992.1"
                     /db_xref="CCDS:CCDS9689.1"
                     /db_xref="GeneID:6166"
                     /db_xref="HGNC:HGNC:10346"
                     /db_xref="MIM:180469"
                     /translation="MVNVPKTRRTFCKKCGKHQPHKVTQYKKGKDSLYAQGRRRYDRKQ
                     SGYGGQTKPIFRKKAKTTKKIVLRLECVEPNCRSKRMLAIKRCKHFELGGDKKRKGQVI
                     QF"
     misc_feature    177..260
                     /gene="RPL36AL"
                     /gene_synonym="RPL36A; RPL36AP42; RPL36A_18_1363"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969Q0.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    258..260
                     /gene="RPL36AL"
                     /gene_synonym="RPL36A; RPL36AP42; RPL36A_18_1363"
                     /note="N6-methyllysine. /evidence=ECO:0000269|Ref.6;
                     propagated from UniProtKB/Swiss-Prot (Q969Q0.3);
                     methylation site"
     regulatory      491..496
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL36AL"
                     /gene_synonym="RPL36A; RPL36AP42; RPL36A_18_1363"
                     /note="hexamer: AATAAA"
     regulatory      495..500
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL36AL"
                     /gene_synonym="RPL36A; RPL36AP42; RPL36A_18_1363"
                     /note="hexamer: AATACA"
     polyA_site      512
                     /gene="RPL36AL"
                     /gene_synonym="RPL36A; RPL36AP42; RPL36A_18_1363"
     polyA_site      518
                     /gene="RPL36AL"
                     /gene_synonym="RPL36A; RPL36AP42; RPL36A_18_1363"
                     /note="major polyA site"
     polyA_site      644
                     /gene="RPL36AL"
                     /gene_synonym="RPL36A; RPL36AP42; RPL36A_18_1363"
     regulatory      657..662
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL36AL"
                     /gene_synonym="RPL36A; RPL36AP42; RPL36A_18_1363"
                     /note="hexamer: AATGAA"
     polyA_site      676
                     /gene="RPL36AL"
                     /gene_synonym="RPL36A; RPL36AP42; RPL36A_18_1363"
ORIGIN
        1 cctgttaggc gagagctgcg aaaggcgaga gctgcgaagg gccaggtgtc gggcgctgtt
       61 tctcgttttc atcatataga caaaacagcc ctgctgcaaa gatggtcaac gtacctaaaa
      121 cccgaagaac cttctgtaag aagtgtggca agcatcagcc tcacaaagtg acacagtata
      181 agaagggcaa ggattctttg tatgcccagg gaaggaggcg ctatgatcgg aagcagagtg
      241 gctatggtgg gcagacaaag ccaattttcc ggaagaaggc taagaccaca aagaagattg
      301 tgctaaggct ggaatgtgtt gagcctaact gcagatccaa gaggatgctg gccattaaga
      361 gatgcaagca ttttgaactg ggaggagata agaagagaaa gggccaagtg atccagttct
      421 aaactttggg atatttttct tcaattttga agagaaaatg gtgaagccat agaaaagtta
      481 cccgagggaa aataaataca gtgatattct tacgcaaact ttttgtggtt tttacttata
      541 aatagaattc catgtttagt gtagtcccac ctcaaacttt actaacaagt ttatatatgt
      601 atgaagggaa aatactactt tactactttt tgttttctgg tcaatttcaa atgttgaatg
      661 aattcataaa cattga
//
LOCUS       NM_001001317             913 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens serine protease 58 (PRSS58), mRNA.
ACCESSION   NM_001001317
VERSION     NM_001001317.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 913)
  AUTHORS   Bubb KL, Bovee D, Buckley D, Haugen E, Kibukawa M, Paddock M,
            Palmieri A, Subramanian S, Zhou Y, Kaul R, Green P and Olson MV.
  TITLE     Scan of human genome reveals no new Loci under ancient balancing
            selection
  JOURNAL   Genetics 173 (4), 2165-2177 (2006)
   PUBMED   16751668
REFERENCE   2  (bases 1 to 913)
  AUTHORS   Rowen L, Koop BF and Hood L.
  TITLE     The complete 685-kilobase DNA sequence of the human beta T cell
            receptor locus
  JOURNAL   Science 272 (5269), 1755-1762 (1996)
   PUBMED   8650574
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.27638.1, AK122940.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2149178
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000547058.6/ ENSP00000447588.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK122940.1 and AA625766.1.
            On May 17, 2019 this sequence version replaced NM_001001317.4.
            Summary: This gene encodes a member of the trypsin family of serine
            proteases. This gene and several related trypsinogen genes are
            localized to the T cell receptor beta locus on chromosome 7. This
            gene was previously described as a trypsinogen-like pseudogene, but
            it is now thought to be a protein-coding gene. [provided by RefSeq,
            Jul 2008].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..913
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..913
                     /gene="PRSS58"
                     /gene_synonym="PRSS1; TRY1; TRYX3; UNQ2540"
                     /note="serine protease 58"
                     /db_xref="GeneID:136541"
                     /db_xref="HGNC:HGNC:39125"
     misc_feature    38..40
                     /gene="PRSS58"
                     /gene_synonym="PRSS1; TRY1; TRYX3; UNQ2540"
                     /note="upstream in-frame stop codon"
     CDS             110..835
                     /gene="PRSS58"
                     /gene_synonym="PRSS1; TRY1; TRYX3; UNQ2540"
                     /EC_number="3.4.21.4"
                     /note="trypsin-X3; protease, serine 58"
                     /codon_start=1
                     /product="serine protease 58 precursor"
                     /protein_id="NP_001001317.1"
                     /db_xref="CCDS:CCDS5871.1"
                     /db_xref="GeneID:136541"
                     /db_xref="HGNC:HGNC:39125"
                     /translation="MKFILLWALLNLTVALAFNPDYTVSSTPPYLVYLKSDYLPCAGVL
                     IHPLWVITAAHCNLPKLRVILGVTIPADSNEKHLQVIGYEKMIHHPHFSVTSIDHDIML
                     IKLKTEAELNDYVKLANLPYQTISENTMCSVSTWSYNVCDIYKEPDSLQTVNISVISKP
                     QCRDAYKTYNITENMLCVGIVPGRRQPCKEVSAAPAICNGMLQGILSFADGCVLRADVG
                     IYAKIFYYIPWIENVIQNN"
     sig_peptide     110..160
                     /gene="PRSS58"
                     /gene_synonym="PRSS1; TRY1; TRYX3; UNQ2540"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     161..832
                     /gene="PRSS58"
                     /gene_synonym="PRSS1; TRY1; TRYX3; UNQ2540"
                     /product="Serine protease 58. /id=PRO_0000317763"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYP2.1)"
     misc_feature    575..577
                     /gene="PRSS58"
                     /gene_synonym="PRSS1; TRY1; TRYX3; UNQ2540"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8IYP2.1); glycosylation site"
     misc_feature    626..628
                     /gene="PRSS58"
                     /gene_synonym="PRSS1; TRY1; TRYX3; UNQ2540"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8IYP2.1); glycosylation site"
     regulatory      897..902
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRSS58"
                     /gene_synonym="PRSS1; TRY1; TRYX3; UNQ2540"
                     /note="hexamer: TATAAA"
     polyA_site      913
                     /gene="PRSS58"
                     /gene_synonym="PRSS1; TRY1; TRYX3; UNQ2540"
                     /note="major polyA site"
ORIGIN
        1 aaggctggca aaaaggagac cagacaggag gcgtctgtag agatatcatg aacttcaact
       61 tagctttgtt ttccagagac tggagctaaa ctgggctttc aacatcatca tgaagtttat
      121 cctcctctgg gctctcttga atctgactgt tgctttggcc tttaatccag attacacagt
      181 cagctccact cccccttact tggtctattt gaaatctgac tacttgccct gcgctggagt
      241 cctgatccac ccgctttggg tgatcacagc tgcacactgc aatttaccaa agcttcgggt
      301 gatattgggg gttacaatcc cagcagactc taatgaaaag catctgcaag tgattggcta
      361 tgagaagatg attcatcatc cacacttctc agtcacttct attgatcatg acatcatgct
      421 aatcaagctg aaaacagagg ctgaactcaa tgactatgtg aaattagcca acctgcccta
      481 ccaaactatc tctgaaaata ccatgtgctc tgtctctacc tggagctaca atgtgtgtga
      541 tatctacaaa gagcccgatt cactgcaaac tgtgaacatc tctgtaatct ccaagcctca
      601 gtgtcgcgat gcctataaaa cctacaacat cacggaaaat atgctgtgtg tgggcattgt
      661 gccaggaagg aggcagccct gcaaggaagt ttctgctgcc ccggcaatct gcaatgggat
      721 gcttcaagga atcctgtctt ttgcggatgg atgtgttttg agagctgatg ttggcatcta
      781 tgccaaaatt ttttactata taccctggat tgaaaatgta atccaaaata actgagctgt
      841 ggcagttgtg gaccatatga cacagcttgt ccccatcgtt cacctttaga attaaatata
      901 aattaactcc tca
//
LOCUS       NM_001001325             609 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens serine peptidase inhibitor Kazal type 14 (putative)
            (SPINK14), mRNA.
ACCESSION   NM_001001325
VERSION     NM_001001325.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 609)
  AUTHORS   Puente XS and Lopez-Otin C.
  TITLE     A genomic analysis of rat proteases and protease inhibitors
  JOURNAL   Genome Res 14 (4), 609-622 (2004)
   PUBMED   15060002
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: JF509943.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000356972.2/ ENSP00000349459.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            JF509943.1.
            On or before Nov 7, 2015 this sequence version replaced
            XM_005268449.1, NM_001001325.1.
FEATURES             Location/Qualifiers
     source          1..609
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..609
                     /gene="SPINK14"
                     /gene_synonym="SPINK5L2"
                     /note="serine peptidase inhibitor Kazal type 14 (putative)"
                     /db_xref="GeneID:408187"
                     /db_xref="HGNC:HGNC:33825"
     misc_feature    47..49
                     /gene="SPINK14"
                     /gene_synonym="SPINK5L2"
                     /note="upstream in-frame stop codon"
     CDS             95..388
                     /gene="SPINK14"
                     /gene_synonym="SPINK5L2"
                     /note="serine protease inhibitor Kazal-type 14; Kazal type
                     serine protease inhibitor 5-like 2"
                     /codon_start=1
                     /product="serine protease inhibitor Kazal-type 14
                     precursor"
                     /protein_id="NP_001001325.1"
                     /db_xref="CCDS:CCDS4288.1"
                     /db_xref="GeneID:408187"
                     /db_xref="HGNC:HGNC:33825"
                     /translation="MAKSFPVFSLLSFILIHLVLSSVSGPRHWWPPRGIIKVKCPYEKV
                     NLSWYNGTVNPCPGLYQPICGTNFITYDNPCILCVESLKSHGRIRFYHDGKC"
     sig_peptide     95..157
                     /gene="SPINK14"
                     /gene_synonym="SPINK5L2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     158..385
                     /gene="SPINK14"
                     /gene_synonym="SPINK5L2"
                     /product="Serine protease inhibitor Kazal-type 14.
                     /id=PRO_5000095997"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IE38.1)"
     misc_feature    245..247
                     /gene="SPINK14"
                     /gene_synonym="SPINK5L2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6IE38.1); glycosylation site"
     misc_feature    269..274
                     /gene="SPINK14"
                     /gene_synonym="SPINK5L2"
                     /note="Reactive bond.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00798; propagated
                     from UniProtKB/Swiss-Prot (Q6IE38.1); other site"
ORIGIN
        1 ttccttttct cttctttctg agtgattgta ttagagggca acaacctgag acaatatttc
       61 agagcatcat tccaaggaca caccaggagg aaaaatggcc aaatctttcc cagtattctc
      121 acttttgtcc tttatcttga tacatttggt gttatcttct gtttcaggcc ctagacactg
      181 gtggccacca cgtggaatta ttaaggtgaa atgtccatat gagaaagtaa acttgagctg
      241 gtacaatgga acggtcaacc cctgccctgg cttatatcaa cccatctgcg gcaccaattt
      301 tataacctat gataatccct gcattctgtg tgttgagagc ttgaaatctc atggaagaat
      361 caggttttac catgatggaa aatgttagct gagtggactt gaatgtggaa gatatcttct
      421 tttttttttc ctccatgtct ccaatctccc tcttgcgctt tttacatctc cttgcatttg
      481 ttcttcatga caaagagcta tcactactga gcttgtagca gattgttcaa agttccttcc
      541 atggacctct cccctcactg actgattgcc ttccatagtc tccctaataa atacactttt
      601 atgaaagtc
//
LOCUS       NM_001001330            5172 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens receptor accessory protein 3 (REEP3), mRNA.
ACCESSION   NM_001001330
VERSION     NM_001001330.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5172)
  AUTHORS   Wei H, Yan S, Hui Y, Liu Y, Guo H, Li Q, Li J and Chang Z.
  TITLE     CircFAT1 promotes hepatocellular carcinoma progression via
            miR-30a-5p/REEP3 pathway
  JOURNAL   J Cell Mol Med 24 (24), 14561-14570 (2020)
   PUBMED   33179443
  REMARK    GeneRIF: CircFAT1 promotes hepatocellular carcinoma progression via
            miR-30a-5p/REEP3 pathway.
REFERENCE   2  (bases 1 to 5172)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 5172)
  AUTHORS   Kumar D, Golchoubian B, Belevich I, Jokitalo E and Schlaitz AL.
  TITLE     REEP3 and REEP4 determine the tubular morphology of the endoplasmic
            reticulum during mitosis
  JOURNAL   Mol Biol Cell 30 (12), 1377-1389 (2019)
   PUBMED   30995177
  REMARK    GeneRIF: the endoplasmic reticulum (ER) membrane proteins REEP3 and
            REEP4 as major determinants of ER morphology in metaphase cells.
REFERENCE   4  (bases 1 to 5172)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen AA,
            Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke L,
            Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM, Tiemeier
            H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst FC, Ward ME,
            Wright MJ, Davey Smith G, Deary IJ, Johannesson M, Plomin R,
            Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
REFERENCE   5  (bases 1 to 5172)
  AUTHORS   Guan W, Steffen BT, Lemaitre RN, Wu JHY, Tanaka T, Manichaikul A,
            Foy M, Rich SS, Wang L, Nettleton JA, Tang W, Gu X, Bandinelli S,
            King IB, McKnight B, Psaty BM, Siscovick D, Djousse L, Chen YI,
            Ferrucci L, Fornage M, Mozafarrian D, Tsai MY and Steffen LM.
  TITLE     Genome-wide association study of plasma N6 polyunsaturated fatty
            acids within the cohorts for heart and aging research in genomic
            epidemiology consortium
  JOURNAL   Circ Cardiovasc Genet 7 (3), 321-331 (2014)
   PUBMED   24823311
REFERENCE   6  (bases 1 to 5172)
  AUTHORS   Thompson SD, Marion MC, Sudman M, Ryan M, Tsoras M, Howard TD,
            Barnes MG, Ramos PS, Thomson W, Hinks A, Haas JP, Prahalad S,
            Bohnsack JF, Wise CA, Punaro M, Rose CD, Pajewski NM, Spigarelli M,
            Keddache M, Wagner M, Langefeld CD and Glass DN.
  TITLE     Genome-wide association analysis of juvenile idiopathic arthritis
            identifies a new susceptibility locus at chromosomal region 3q13
  JOURNAL   Arthritis Rheum 64 (8), 2781-2791 (2012)
   PUBMED   22354554
REFERENCE   7  (bases 1 to 5172)
  AUTHORS   Yuan X, Waterworth D, Perry JR, Lim N, Song K, Chambers JC, Zhang W,
            Vollenweider P, Stirnadel H, Johnson T, Bergmann S, Beckmann ND, Li
            Y, Ferrucci L, Melzer D, Hernandez D, Singleton A, Scott J, Elliott
            P, Waeber G, Cardon L, Frayling TM, Kooner JS and Mooser V.
  TITLE     Population-based genome-wide association studies reveal six loci
            influencing plasma levels of liver enzymes
  JOURNAL   Am J Hum Genet 83 (4), 520-528 (2008)
   PUBMED   18940312
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 5172)
  AUTHORS   Castermans D, Vermeesch JR, Fryns JP, Steyaert JG, Van de Ven WJ,
            Creemers JW and Devriendt K.
  TITLE     Identification and characterization of the TRIP8 and REEP3 genes on
            chromosome 10q21.3 as novel candidate genes for autism
  JOURNAL   Eur J Hum Genet 15 (4), 422-431 (2007)
   PUBMED   17290275
  REMARK    GeneRIF: Receptor Expression-Enhancing Proteins (REEP) 3 is one of
            the six human homologs of yeast Yop1p, a probable regulator of
            cellular vesicle trafficking between the endoplasmatic reticulum and
            the Golgi network. Positional candidate gene for autism.
REFERENCE   9  (bases 1 to 5172)
  AUTHORS   Clark AJ, Metherell LA, Cheetham ME and Huebner A.
  TITLE     Inherited ACTH insensitivity illuminates the mechanisms of ACTH
            action
  JOURNAL   Trends Endocrinol Metab 16 (10), 451-457 (2005)
   PUBMED   16271481
  REMARK    Review article
REFERENCE   10  (bases 1 to 5172)
  AUTHORS   Saito H, Kubota M, Roberts RW, Chi Q and Matsunami H.
  TITLE     RTP family members induce functional expression of mammalian odorant
            receptors
  JOURNAL   Cell 119 (5), 679-691 (2004)
   PUBMED   15550249
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.449631.1,
            SRR1660803.112087.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000373758.5/ ENSP00000362863.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC068557.1 and AC022387.8.
            On Nov 23, 2018 this sequence version replaced NM_001001330.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5172
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.3"
     gene            1..5172
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
                     /note="receptor accessory protein 3"
                     /db_xref="GeneID:221035"
                     /db_xref="HGNC:HGNC:23711"
                     /db_xref="MIM:609348"
     misc_feature    20..22
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
                     /note="upstream in-frame stop codon"
     CDS             146..913
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
                     /codon_start=1
                     /product="receptor expression-enhancing protein 3"
                     /protein_id="NP_001001330.1"
                     /db_xref="CCDS:CCDS44411.1"
                     /db_xref="GeneID:221035"
                     /db_xref="HGNC:HGNC:23711"
                     /db_xref="MIM:609348"
                     /translation="MVSWMISRAVVLVFGMLYPAYYSYKAVKTKNVKEYVRWMMYWIVF
                     ALYTVIETVADQTVAWFPLYYELKIAFVIWLLSPYTKGASLIYRKFLHPLLSSKEREID
                     DYIVQAKERGYETMVNFGRQGLNLAATAAVTAAVKSQGAITERLRSFSMHDLTTIQGDE
                     PVGQRPYQPLPEAKKKSKPAPSESAGYGIPLKDGDEKTDEEAEGPYSDNEMLTHKGLRR
                     SQSMKSVKTTKGRKEVRYGSLKYKVKKRPQVYF"
     misc_feature    146..208
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NUK4.1);
                     transmembrane region"
     misc_feature    248..310
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NUK4.1);
                     transmembrane region"
     misc_feature    320..382
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NUK4.1);
                     transmembrane region"
     misc_feature    617..871
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NUK4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    746..748
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q6NUK4.1); phosphorylation site"
     misc_feature    773..775
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q6NUK4.1); phosphorylation site"
     regulatory      998..1003
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
                     /note="hexamer: ATTAAA"
     polyA_site      1016
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
                     /note="major polyA site"
     regulatory      4597..4602
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
                     /note="hexamer: AATAAA"
     polyA_site      4621
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
                     /note="major polyA site"
     regulatory      5146..5151
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
                     /note="hexamer: TATAAA"
     regulatory      5150..5155
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
                     /note="hexamer: AATAAA"
     polyA_site      5164
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
     polyA_site      5172
                     /gene="REEP3"
                     /gene_synonym="C10orf74; Yip2b"
ORIGIN
        1 acacaccggg cccggctcct gagggcgcca gcgcggcccc ggggagcgcg aggagccggc
       61 gaagcgcgcg gcctgccgtt ggcggcctgg tccgcagcgc cctgcgccca cccgccccgg
      121 acgtggggcc caagcccccg tgaagatggt gtcctggatg atctccagag ccgtggtgct
      181 ggtgtttgga atgctttatc ctgcatatta ttcatacaaa gctgtgaaaa caaaaaacgt
      241 gaaggaatat gttcgatgga tgatgtactg gattgttttt gctctctata ctgtgattga
      301 aacagtagcc gatcaaacag ttgcttggtt tcccctgtac tatgagctga agattgcttt
      361 tgtcatatgg ctgctttctc cctataccaa aggagcaagt ttaatatata gaaaattcct
      421 tcatccactt ctttcttcaa aggaaaggga gattgatgat tatattgtac aagcaaagga
      481 acgaggctat gaaaccatgg taaactttgg acggcaaggt ttaaaccttg cagctactgc
      541 tgctgttact gcagcagtaa agagccaagg agcaataact gaacgtttaa gaagcttcag
      601 tatgcatgat ttaacaacta tccaaggtga tgagcctgtg ggacaaagac cataccaacc
      661 tctaccagaa gcaaaaaaga aaagtaaacc agcccccagt gaatcagcag gttatggaat
      721 tccactgaaa gacggagatg agaaaacaga tgaagaagca gaggggccat attcagataa
      781 tgagatgtta acacacaaag ggcttcgaag atcgcaaagc atgaaatctg tgaaaaccac
      841 caaaggccgc aaagaggtgc ggtacgggtc actaaaatac aaagtgaaga aacgaccaca
      901 agtgtatttt tagtcatcta cacgtcaaat atcccaagac agattatgct aaatacatcg
      961 acttcatctt ctaacatgat atattcagga tttacacatt aaaatgatta tttaaattgt
     1021 ggcagtgatg gggtttactt tcatgaattt aaattgtttt tatttctgta acaattgctt
     1081 ccaaatattg actactaaag gcagttctgc aagatgtact aaatatgtat attagaaatt
     1141 atagaaaatc atgttgtccg ttttcaaatt catcaacagc ctagagtgcc tgagatataa
     1201 gatgaaacac aaatccacag tatacttgaa aggagccttt ttacggttca ggataaatca
     1261 gcctttgtga tgtactgtgt ttacctcctt ttgtgttgta tctggtaatt aaataggcct
     1321 cagattcagc agtgacataa caaggacata atgtaagata ataaagtagg ttttatatat
     1381 tctttaaatt tttacttata taatactttc tagtttttcc accatcagct gaaagttttt
     1441 gaaacaaata tttgaaaacc aggtatccac acatagcact tttattcctg actagttttg
     1501 cacacttgaa aattgtttac ttattttaca actgttttac tgatgctatc tttattgttt
     1561 ttgccgtatt ctgacatgtc aaatctatgc cttgaattat atcatctctt ttcctgtggg
     1621 tttcatttgt taaattcatt ggattttaat aatataaaag tatagctaat tgttcagttt
     1681 taactatttt taattatctt cttaacaaat aagaagttgc tttaaacatt aaccaatttt
     1741 ctatatttag ctatacagag taattgaact taacatgttt ttgtcaacac caattacatt
     1801 ttcagctttt aaaaatggta gcttttgtga aatagaatca gtgaccagta tagcacttag
     1861 atcccttcta actcatataa tttttctcag ccaatccatt cacaagcttg gcattgacat
     1921 gtgctgctag tttataaact ggcattgacg aaaatcattt gaatctcttc tggctgagat
     1981 aatttgccaa tgcaaaatac agttgtcatt aatcctgcac attagaaatt attagaaaca
     2041 tattactttt taactttaaa tctcaaagag attttgagtt attgaattct taaggctttc
     2101 ttagcttgaa ctgataacta tgcattatga accctaagtc aatatatttt tggtggtttt
     2161 agtgatcagt aatcaaattt gtacttatta tgcttgttca ggtaatttac ttgactgttc
     2221 tatttgtttg tccaaaagat aaaatgatga gagagattcg agaggtcttt gatctgtctc
     2281 ccttttaaga aatgaagcca gctggtaatg tatattcagg acttcctcag agtattggcc
     2341 aagaacataa tgtttacaca ggagtacctt ggtataatgc atacattgtc tcatgatact
     2401 agtcataaaa tattttatgg attatttcac attcttcata tataacaagt aaaattaatt
     2461 cagttttctt ctcccaacgt ttaattctga ataactctat ctactttacc ctaattttta
     2521 gcctcttaat ttctggaagg actctaattt ctattccaaa tttctatgaa ttctaattgt
     2581 aaattatcgg aacagagttt tatttatatg acctggtact agacttctta atataactgt
     2641 tacactgtcc ttgtctttcc tactcaaaga cagtatcatc tgaagttgcc taataaggtc
     2701 atgtgagtca agaactttat ctgtgggagc tgatttgcac cattttacct tttttttttt
     2761 tttttttttg agacggagtc ttgctctgtc accaggctgg agtgcagtgg cgcgatctcg
     2821 gctcactaca acctctgcct cccgggttcg agcgattctc ctgcctcggc ctcccgagta
     2881 actgggtcta caggcccgtg ctaccacgcc cagctaattt ttgtcttttt agtagagaca
     2941 gggtttaacc atgttgccca ggatggtctc catctcttga cctcgtgatc cgcccgcctc
     3001 ggcctcccaa acttctggga ttacaggcgt gagccaccgc acccagccac cattttatct
     3061 ctctaaagtc tggtcccagt attaaaccta ttctttagta aactcatatt actgttctaa
     3121 attgaagaaa ttatttatta ctctgtactt ctagactcaa aattctttat caaagatagt
     3181 ctcaaagagg tagtacaagt cctgtttaac tgcacttttt cacattcaca gtgcttcctc
     3241 tgatatcttt ccttacatca ttatacactg ttgatatcat tttactcttc tttctcttct
     3301 acatttctta aattttggtt cttttcctgt acatgtgttt tagcggggcc cttttctttg
     3361 aactttgtct aattagcctg tacatttttg tttcttttaa ggtagaacag atcttttttt
     3421 gtttctcctt ttaagtctac tggttttaaa agaggtaaat gtatccatag accacagtgc
     3481 cttgcttttt cctctgccag cacatggagc acgggattag atgcacaaac ctatttaggg
     3541 aactattttg gtagatgttt gagtttatac agaaattgca gctggtattt tattttgctg
     3601 tacatttact caacttgtcc attagtattt aactatttcc agagtttgtt taggagtaag
     3661 aattgaccca ttcgttagtt taccatattt tttcctggta taaaaaggag ccagaaataa
     3721 gccttattgc taaataatta attatgtaag cccacctagg tcctgcataa gatccccctc
     3781 acatacttca caatatatat gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt
     3841 gtatttggct aaaaaattat actgccaaaa ttactgatta taaatacttg actacactga
     3901 ttgatgggac aaaatgatta aagtattttc agggatctta ttccatatgt caccaccaaa
     3961 gatttctaca gtgttataaa gtatataaat attccaaatt tctgtggtta aatatttttt
     4021 tctttttttt ccttttttag aataacacag tctgtgcttt ccaaaaatgc ttgaactttt
     4081 atgttgttaa gaaatatata atgatatctt acattaagca tgagtctaat ttgtattaat
     4141 tgggatggac taaattttca tttgattatc aggaaaatta aggagttata tatttaaaag
     4201 caattttctg tgttttcttc tttgtaagtt gactcatttg tgaagcaatt aggcaaattt
     4261 tgagaagatc attgttattg tggtttgcag tatatatttc ttagtaaata tcacttaaga
     4321 ttaaattttt cagaaagaaa attatagctt ttttcccaaa atatttttaa gatttaatct
     4381 ttttgtagta tgctacagat ttaattatat taactctttt ttaagacatt gaccatgact
     4441 taacattttg ccttctaaca ccttttaaat ctatgtactt taatagttaa gagaaaataa
     4501 gtttgcagat ttttaataat ctgtttgtaa aaggctatct ctaagcctag tatgtgggta
     4561 attttacagg tgtgtttttt gataacttta atataaaata aactcatttt atttgtggca
     4621 attcgcgttt ctttttttat gccagagtac atatgttgga ttccatgaat tggtattact
     4681 tattattatg tgttgattaa atatatgcac acacttagga ttacagatca cagagcaaat
     4741 tatgaaaatc ataaacattc tggtatggtc atccatagga ttatgaaaaa gaaatactga
     4801 attgttaaat ttggatgtta gaaaggaaag ataggaaaaa caatgagtac agaaatcctc
     4861 accatcaatt tggatgggtt agctgtctca ggcataaaat gtaacacaaa attcagattt
     4921 atgtatcctg gaaatgttct ggggttccat ctgttttaaa gttagacgtc tgtctgcctc
     4981 acatttaagc tttagagaga aatcctatgt tttaagaagt ttctttgtgt tacttcatta
     5041 tgacacataa tgcgtgttaa ggtctttcta gatagcattt taaatggaat tattttcatt
     5101 ttcattatga ggtatatact tgtaatgatc taaagaggtt agaaatataa ataaaaattc
     5161 aaaagaacac aa
//
LOCUS       NM_001001331            8964 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens ATPase plasma membrane Ca2+ transporting 2 (ATP2B2),
            transcript variant 1, mRNA.
ACCESSION   NM_001001331
VERSION     NM_001001331.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8964)
  AUTHORS   Smits JJ, Oostrik J, Beynon AJ, Kant SG, de Koning Gans PAM,
            Rotteveel LJC, Klein Wassink-Ruiter JS, Free RH, Maas SM, van de
            Kamp J, Merkus P, Koole W, Feenstra I, Admiraal RJC, Lanting CP,
            Schraders M, Yntema HG, Pennings RJE and Kremer H.
  CONSRTM   DOOFNL Consortium
  TITLE     De novo and inherited loss-of-function variants of ATP2B2 are
            associated with rapidly progressive hearing impairment
  JOURNAL   Hum Genet 138 (1), 61-72 (2019)
   PUBMED   30535804
  REMARK    GeneRIF: Loss-of-function variants of ATP2B2 are associated with
            rapidly progressive hearing impairment.
REFERENCE   2  (bases 1 to 8964)
  AUTHORS   Sundell GN, Arnold R, Ali M, Naksukpaiboon P, Orts J, Guntert P, Chi
            CN and Ivarsson Y.
  TITLE     Proteome-wide analysis of phospho-regulated PDZ domain interactions
  JOURNAL   Mol Syst Biol 14 (8), e8129 (2018)
   PUBMED   30126976
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 8964)
  AUTHORS   Vicario M, Zanni G, Vallese F, Santorelli F, Grinzato A, Cieri D,
            Berto P, Frizzarin M, Lopreiato R, Zonta F, Ferro S, Sandre M, Marin
            O, Ruzzene M, Bertini E, Zanotti G, Brini M, Cali T and Carafoli E.
  TITLE     A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA
            pump is linked with ataxia
  JOURNAL   Neurobiol Dis 115, 157-166 (2018)
   PUBMED   29655659
  REMARK    GeneRIF: A V1143F substitution in PMAC2 alters the binding of
            caslmodulin to the calmodulin-binding domain leading to impaired
            calcium signaling.
REFERENCE   4  (bases 1 to 8964)
  AUTHORS   Roome CJ and Empson RM.
  TITLE     Survival strategies for mouse cerebellar Purkinje neurons lacking
            PMCA2
  JOURNAL   Neurosci Lett 663, 25-28 (2018)
   PUBMED   29452612
  REMARK    GeneRIF: PMCA2 loss plays a role in the ataxic phenotype, but can
            paradoxically also minimise calcium rises in cerebellar Purkinje
            neurons, thereby ensuring their resilience and survival. Review
            article
REFERENCE   5  (bases 1 to 8964)
  AUTHORS   Bortolozzi M and Mammano F.
  TITLE     PMCA2 pump mutations and hereditary deafness
  JOURNAL   Neurosci Lett 663, 18-24 (2018)
   PUBMED   29452611
  REMARK    GeneRIF: critical role played by the PMCA2w/a pump in the control of
            hair cell function and survival, and provide mechanistic insight
            into the etiology of deafness and vestibular disorders. Review
            article
REFERENCE   6  (bases 1 to 8964)
  AUTHORS   Hilfiker H, Guerini D and Carafoli E.
  TITLE     Cloning and expression of isoform 2 of the human plasma membrane
            Ca2+ ATPase. Functional properties of the enzyme and its splicing
            products
  JOURNAL   J Biol Chem 269 (42), 26178-26183 (1994)
   PUBMED   7929331
REFERENCE   7  (bases 1 to 8964)
  AUTHORS   Kuzmin I, Stackhouse T, Latif F, Duh FM, Geil L, Gnarra J, Yao M,
            Orcutt ML, Li H, Tory K et al.
  TITLE     One-megabase yeast artificial chromosome and 400-kilobase
            cosmid-phage contigs containing the von Hippel-Lindau tumor
            suppressor and Ca(2+)-transporting adenosine triphosphatase isoform
            2 genes
  JOURNAL   Cancer Res 54 (9), 2486-2491 (1994)
   PUBMED   8162598
REFERENCE   8  (bases 1 to 8964)
  AUTHORS   Brandt P, Ibrahim E, Bruns GA and Neve RL.
  TITLE     Determination of the nucleotide sequence and chromosomal
            localization of the ATP2B2 gene encoding human Ca(2+)-pumping ATPase
            isoform PMCA2
  JOURNAL   Genomics 14 (2), 484-487 (1992)
   PUBMED   1427863
REFERENCE   9  (bases 1 to 8964)
  AUTHORS   Heim R, Hug M, Iwata T, Strehler EE and Carafoli E.
  TITLE     Microdiversity of human-plasma-membrane calcium-pump isoform 2
            generated by alternative RNA splicing in the N-terminal coding
            region
  JOURNAL   Eur J Biochem 205 (1), 333-340 (1992)
   PUBMED   1313367
REFERENCE   10  (bases 1 to 8964)
  AUTHORS   Wang KK, Wright LC, Machan CL, Allen BG, Conigrave AD and Roufogalis
            BD.
  TITLE     Protein kinase C phosphorylates the carboxyl terminus of the plasma
            membrane Ca(2+)-ATPase from human erythrocytes
  JOURNAL   J Biol Chem 266 (14), 9078-9085 (1991)
   PUBMED   1827443
COMMENT     ##Evidence-Data-START##
            CDS exon combination :: X63575.1, SRR1803617.205592.1 [ECO:0000331]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360273.7/ ENSP00000353414.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB210008.1, AK308898.1,
            S95738.1, X63575.1 and AC022384.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001001331.3.
            Summary: The protein encoded by this gene belongs to the family of
            P-type primary ion transport ATPases characterized by the formation
            of an aspartyl phosphate intermediate during the reaction cycle.
            These enzymes remove bivalent calcium ions from eukaryotic cells
            against very large concentration gradients and play a critical role
            in intracellular calcium homeostasis. The mammalian plasma membrane
            calcium ATPase isoforms are encoded by at least four separate genes
            and the diversity of these enzymes is further increased by
            alternative splicing of transcripts. The expression of different
            isoforms and splice variants is regulated in a developmental,
            tissue- and cell type-specific manner, suggesting that these pumps
            are functionally adapted to the physiological needs of particular
            cells and tissues. This gene encodes the plasma membrane calcium
            ATPase isoform 2. Alternatively spliced transcript variants
            encoding different isoforms have been identified. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1), also known as WB.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8964
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..8964
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="ATPase plasma membrane Ca2+ transporting 2"
                     /db_xref="GeneID:491"
                     /db_xref="HGNC:HGNC:815"
                     /db_xref="MIM:108733"
     misc_feature    403..405
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="upstream in-frame stop codon"
     CDS             442..4173
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /EC_number="7.2.2.10"
                     /note="isoform 1 is encoded by transcript variant 1; plasma
                     membrane Ca2+ pump 2; plasma membrane calcium pump; plasma
                     membrane calcium-transporting ATPase 2; plasma membrane
                     calcium ATPase; plasma membrane Ca(2+)-ATPase; ATPase, Ca++
                     transporting, plasma membrane 2"
                     /codon_start=1
                     /product="plasma membrane calcium-transporting ATPase 2
                     isoform 1"
                     /protein_id="NP_001001331.1"
                     /db_xref="CCDS:CCDS33701.1"
                     /db_xref="GeneID:491"
                     /db_xref="HGNC:HGNC:815"
                     /db_xref="MIM:108733"
                     /translation="MGDMTNSDFYSKNQRNESSHGGEFGCTMEELRSLMELRGTEAVVK
                     IKETYGDTEAICRRLKTSPVEGLPGTAPDLEKRKQIFGQNFIPPKKPKTFLQLVWEALQ
                     DVTLIILEIAAIISLGLSFYHPPGEGNEGCATAQGGAEDEGEAEAGWIEGAAILLSVIC
                     VVLVTAFNDWSKEKQFRGLQSRIEQEQKFTVVRAGQVVQIPVAEIVVGDIAQVKYGDLL
                     PADGLFIQGNDLKIDESSLTGESDQVRKSVDKDPMLLSGTHVMEGSGRMLVTAVGVNSQ
                     TGIIFTLLGAGGEEEEKKDKKGVKKGDGLQLPAADGAAASNAADSANASLVNGKMQDGN
                     VDASQSKAKQQDGAAAMEMQPLKSAEGGDADDRKKASMHKKEKSVLQGKLTKLAVQIGK
                     AGLVMSAITVIILVLYFTVDTFVVNKKPWLPECTPVYVQYFVKFFIIGVTVLVVAVPEG
                     LPLAVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTTNRMTVVQAYVG
                     DVHYKEIPDPSSINTKTMELLINAIAINSAYTTKILPPEKEGALPRQVGNKTECGLLGF
                     VLDLKQDYEPVRSQMPEEKLYKVYTFNSVRKSMSTVIKLPDESFRMYSKGASEIVLKKC
                     CKILNGAGEPRVFRPRDRDEMVKKVIEPMACDGLRTICVAYRDFPSSPEPDWDNENDIL
                     NELTCICVVGIEDPVRPEVPEAIRKCQRAGITVRMVTGDNINTARAIAIKCGIIHPGED
                     FLCLEGKEFNRRIRNEKGEIEQERIDKIWPKLRVLARSSPTDKHTLVKGIIDSTHTEQR
                     QVVAVTGDGTNDGPALKKADVGFAMGIAGTDVAKEASDIILTDDNFSSIVKAVMWGRNV
                     YDSISKFLQFQLTVNVVAVIVAFTGACITQDSPLKAVQMLWVNLIMDTFASLALATEPP
                     TETLLLRKPYGRNKPLISRTMMKNILGHAVYQLALIFTLLFVGEKMFQIDSGRNAPLHS
                     PPSEHYTIIFNTFVMMQLFNEINARKIHGERNVFDGIFRNPIFCTIVLGTFAIQIVIVQ
                     FGGKPFSCSPLQLDQWMWCIFIGLGELVWGQVIATIPTSRLKFLKEAGRLTQKEEIPEE
                     ELNEDVEEIDHAERELRRGQILWFRGLNRIQTQIRVVKAFRSSLYEGLEKPESRTSIHN
                     FMAHPEFRIEDSQPHIPLIDDTDLEEDAALKQNSSPPSSLNKNNSAIDSGINLTTDTSK
                     SATSSSPGSPIHSLETSL"
     misc_feature    442..513
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01814.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    493..495
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0K7; propagated from
                     UniProtKB/Swiss-Prot (Q01814.2); phosphorylation site"
     misc_feature    724..786
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01814.2);
                     transmembrane region"
     misc_feature    898..960
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01814.2);
                     transmembrane region"
     misc_feature    1441..1584
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01814.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1612..1671
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01814.2);
                     transmembrane region"
     misc_feature    1771..1824
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01814.2);
                     transmembrane region"
     misc_feature    3067..3126
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01814.2);
                     transmembrane region"
     misc_feature    3157..3219
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01814.2);
                     transmembrane region"
     misc_feature    3280..3348
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01814.2);
                     transmembrane region"
     misc_feature    3403..3468
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01814.2);
                     transmembrane region"
     misc_feature    3526..3591
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01814.2);
                     transmembrane region"
     misc_feature    3622..3687
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01814.2);
                     transmembrane region"
     misc_feature    3799..3801
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q01814.2); phosphorylation site"
     misc_feature    3808..3861
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01814.2);
                     Region: Calmodulin-binding subdomain A.
                     /evidence=ECO:0000250"
     misc_feature    3835..3837
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q01814.2); phosphorylation site"
     misc_feature    3841..3843
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q01814.2); phosphorylation site"
     misc_feature    3856..3858
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="Phosphothreonine, by PKC.
                     /evidence=ECO:0000250|UniProtKB:P20020; propagated from
                     UniProtKB/Swiss-Prot (Q01814.2); phosphorylation site"
     misc_feature    3862..3891
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01814.2);
                     Region: Calmodulin-binding subdomain B.
                     /evidence=ECO:0000250"
     misc_feature    3877..3879
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q01814.2); phosphorylation site"
     misc_feature    3892..3894
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q01814.2); phosphorylation site"
     misc_feature    3928..3930
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q01814.2); phosphorylation site"
     misc_feature    3934..3936
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q01814.2); phosphorylation site"
     misc_feature    3970..3972
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q01814.2); phosphorylation site"
     misc_feature    3973..3975
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0K7; propagated from
                     UniProtKB/Swiss-Prot (Q01814.2); phosphorylation site"
     misc_feature    4003..4005
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0K7; propagated from
                     UniProtKB/Swiss-Prot (Q01814.2); phosphorylation site"
     misc_feature    4021..4170
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01814.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4042..4044
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000250|UniProtKB:Q9R0K7; propagated from
                     UniProtKB/Swiss-Prot (Q01814.2); phosphorylation site"
     misc_feature    4072..4074
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q01814.2); phosphorylation site"
     regulatory      8941..8946
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="hexamer: AATAAA"
     polyA_site      8964
                     /gene="ATP2B2"
                     /gene_synonym="DFNA82; PMCA2; PMCA2a; PMCA2i"
                     /note="major polyA site"
ORIGIN
        1 acagtctgca gaggggcccg ggcacgctgg ctgggctcag ccgcggcacc agctgccgca
       61 ccgcgattac ggggctgccc gccgggaaac cgtgcaggat tggtggtgat tttcatagcc
      121 aagagccacc acccctgacc atgtagatgc cagttccagg gagcagcatg ggccccactg
      181 aatggagact cctgggtcta cagccctgag cccctccggc ccctggacct cgtcccacac
      241 cggaggacac ctcttggagc tcaccaccac tgtcaccagc ccgcctcggc cacccccacc
      301 ccccgggacc cggagtcggc cgcctggtgc cacagctgac cagtgagggt gtgctgagga
      361 cagccacaag cagccatcac ccggcagcct cttgtccagc gctgaccctt gggcccagcc
      421 cgagcaagga ccgcagcaaa catgggtgac atgaccaaca gcgactttta ctccaaaaac
      481 caaagaaatg agtcgagcca tgggggcgag ttcgggtgca caatggagga gctccgctcc
      541 ctcatggagc tgcggggcac tgaggctgtg gtcaagatca aggagactta tggggacacc
      601 gaagccatct gccggcgcct caaaacctca cctgttgaag gtttgccggg caccgctcca
      661 gacctggaaa agagaaagca aatttttggg caaaacttta tacctccaaa gaagccaaaa
      721 accttcctgc agctcgtgtg ggaggcgctg caggacgtga cgctcatcat cctggagatt
      781 gccgccatca tctccctggg gctgtccttc taccacccgc ccggcgaggg caacgaagga
      841 tgtgcgacgg cccagggtgg ggcagaggat gaaggagagg cagaggcagg ttggatcgag
      901 ggggccgcca ttctcctctc agttatctgt gtggtcctgg tcacggcctt caatgactgg
      961 agcaaagaga aacagttccg gggcctgcag agccgcatcg agcaggaaca gaaatttacc
     1021 gtggtccggg ctggccaggt ggtccagatc cctgtggctg agatcgtggt tggggacata
     1081 gcccaggtca aatatggtga cctcctccct gccgacggcc tcttcatcca gggcaatgac
     1141 ctcaagattg atgaaagctc cctaactgga gagtctgacc aggtgcgcaa gtccgtggac
     1201 aaggacccca tgctgctgtc aggaacccac gtgatggagg gctcaggacg gatgttggtg
     1261 actgctgtgg gtgtgaactc tcagactggc atcatcttta ccctcctggg ggctggtggt
     1321 gaagaggaag agaagaaaga caaaaaaggt gtgaagaagg gggatggcct tcagctacca
     1381 gcagcagacg gtgcggcagc ttcaaatgct gcagatagtg cgaatgccag cctagtcaat
     1441 ggtaaaatgc aggatggcaa tgtggacgcc agccagagca aagccaaaca acaggacggg
     1501 gcagccgcca tggagatgca gcccctcaag agtgccgagg gcggcgacgc tgacgacagg
     1561 aagaaggcca gcatgcacaa gaaggagaag tccgtgctgc agggcaagct caccaagctg
     1621 gctgtgcaga tcgggaaggc gggcttggtg atgtcagcca tcacggtgat catcctggtg
     1681 ctctacttca ctgtggacac cttcgtggtc aacaagaagc cgtggctgcc tgagtgcacg
     1741 cccgtctacg tgcagtactt tgtcaagttc ttcatcattg gcgtgacggt gctggtggtc
     1801 gccgtgcccg aggggctccc tctggccgtc accatctcgt tggcctattc ggtgaagaaa
     1861 atgatgaagg acaacaacct ggtacgccac ctggatgcct gtgagaccat gggcaatgcc
     1921 acagccatct gctcagacaa gacaggcacg ctgaccacca atcgcatgac agtggtacag
     1981 gcctatgtcg gcgacgtcca ctataaagag atccccgacc ccagctccat caacaccaag
     2041 accatggagc tgctgatcaa tgccatcgcc atcaacagcg cctacaccac caagattctg
     2101 cccccagaga aggagggcgc cctgcctcgg caggtgggca acaagacgga gtgcggcctg
     2161 ctgggcttcg tgctggacct gaagcaggac tacgagcccg tgcgcagcca gatgccagag
     2221 gagaagttgt acaaagtgta caccttcaac tccgtgcgca agtccatgag cactgtcatc
     2281 aagctgcccg acgagagctt ccgcatgtac agcaaggggg cttctgagat cgtgctcaag
     2341 aagtgctgca aaatcctcaa tggggcggga gagcctcgtg tcttccggcc ccgcgaccgg
     2401 gacgagatgg taaagaaggt gattgagccc atggcttgcg atgggctccg cactatctgc
     2461 gtggcctacc gcgacttccc cagcagcccg gagccggact gggacaatga gaatgacatc
     2521 ctcaacgaac tcacctgcat ctgcgtggtg ggcatcgagg acccggtgcg gccagaggtc
     2581 ccagaagcca tccgcaagtg ccagcgggca ggcatcacgg tccgcatggt cactggcgac
     2641 aatatcaaca cggctcgggc catcgccatc aagtgtggca tcatccatcc tggggaggac
     2701 tttctgtgcc tcgagggcaa ggagttcaac aggaggatcc gcaacgagaa gggggagatt
     2761 gagcaggagc gaattgacaa gatctggcca aagctgcggg tgctggctcg ctcctcccca
     2821 acggacaagc ataccctggt taaaggcatc atcgacagca cacacactga gcagcggcag
     2881 gtggtggccg tgacggggga cgggaccaac gacgggcctg cactcaagaa ggccgacgtg
     2941 ggcttcgcca tgggcatcgc aggcactgac gtggccaagg aggcctcaga catcatcctg
     3001 acagacgaca atttcagcag catcgtcaag gcagtgatgt ggggccgcaa cgtctatgac
     3061 agcatctcca aattcttgca gttccagctc accgtcaacg tggtggccgt gattgtggcc
     3121 ttcacaggcg cctgcatcac gcaggactcc cctctgaagg ccgtgcagat gctctgggtg
     3181 aacctcatca tggacacgtt tgcctcgctg gcactggcca ctgagccgcc cacggagacc
     3241 ctgctgctga ggaagccgta cggccgcaac aagccgctca tctccaggac catgatgaag
     3301 aacatcctgg gccatgctgt ctaccagctt gccctcatct tcaccctgct ctttgttggc
     3361 gagaagatgt tccagatcga cagcgggagg aacgcgcccc tgcattcgcc accctcagaa
     3421 cattacacca tcatcttcaa caccttcgtc atgatgcagc tcttcaacga gatcaacgcc
     3481 cgcaagatcc acggcgagcg caatgtcttt gacggcatct tccggaaccc catcttctgc
     3541 accatcgtgc tgggcacctt tgccatccag atagtgatcg tgcagtttgg agggaagcca
     3601 ttcagctgct ctccactgca gctggaccag tggatgtggt gcatattcat tgggttagga
     3661 gagctcgttt ggggccaggt catcgccacc atcccgacca gcagactcaa gttcctcaag
     3721 gaggcaggca ggctcacaca gaaggaggag atcccggagg aggagctcaa cgaggacgtg
     3781 gaggagatcg accacgcgga gcgggagctg cggcggggcc agatcctgtg gttccgaggc
     3841 ctgaatcgga tccagacaca gatccgcgtc gtgaaggcgt tccgtagctc tctctatgaa
     3901 ggtttagaaa agcctgaatc tcgaacctcc atccataact tcatggctca tcctgaattc
     3961 cggatcgaag attcccagcc ccacatcccc ctcattgatg acaccgacct ggaagaagat
     4021 gccgcgctca agcagaactc gagcccgccg tcatccctca acaagaacaa cagcgccatc
     4081 gacagtggga tcaacctgac gaccgacaca agcaaatcag ctacctcttc aagtccaggg
     4141 agccccatcc acagcctgga gacgtcgctt tagctgagga ccctctcgcc tgcccgcccg
     4201 ccctcatgga ccccgctgcc acccgctttc cgggcaccca tccatccagg cacccaactc
     4261 acccaagcag caacgagcaa caatcggaaa ccaaatactg gagagaaaac caacgtttcc
     4321 acccacagac cctttctctg gctgcgatgc tgtttgaact ctttttcact tcaaggcaag
     4381 gggcgggatc tccactgggg gcttacggga gtgagcggtt ttcccaaaac aagcccttcc
     4441 tggctcccac ccagacatgg accagccatg cacccgccca gccaccacgt cccccgcatg
     4501 aatgtactgt acactttcaa tcctcccctt gtttggtttt tgggggttgg ggaggggttt
     4561 ttgtttgttt gtttgttttc ttaggcggga actgcaaaca gactcttttc tgagactatt
     4621 tatccaatcc actggtctgt gagtttttga aatgcttgca cagcatggtc tcagttgtat
     4681 agattaattt aataactttt tgaaattgca gagcttaact cgcctagtag atttgcacca
     4741 atggaaccga agaacttcat agacactcac aaggttatat ccatttcttt gtatctatat
     4801 caacgtatac ttttccgaga ctgtatacgt ccatatagat aggtagatat atatatatat
     4861 atataaatat atatacatgg atatataaag tttctttgcc ggcatgttgc cttgtttccg
     4921 cttaaattgc tctattttaa cttatttatg tcctaaaaga agaatgtaat ttgtttacaa
     4981 acctgtagat aacgtctttg gctatttgta tggtttaaga acactggtgg ctgagatgct
     5041 ataaaaacag ctcggcccaa cagacacttc ccctgggttg catcctggat gttttatgat
     5101 agccatgctc tgatttttgc ctgctatttc cgttcaataa tgtcactacc gtgagaggct
     5161 caggcagaag ccaaatgcta ccgagttgcc atcctgaggg gtttaacaac atgctccgta
     5221 gacgaaggga gaggaggaga gaaggcttcc tgggtttgca acactaacgg ccatccggcc
     5281 caaggatgcc aggatctgca aagcactgct cgaagacttt tctctcaatg aaactcgctt
     5341 gagtttacta agagcatttc aaaaataggt tctctttggc actgtctgta cagagattga
     5401 ggtagtgttg aaatattata aatggtattg tgttgatttt tttttttatt tagtaactta
     5461 caggtttgtt tccttattaa tggcagcatc tgagctgttg gcatattgga tgaggatcag
     5521 tatggcttgc tgcttttatt tttatttttg aagaagaata gcctttttct ctgcactatt
     5581 tagatccgaa tgaaccttat gatgtgtata ttgagatgta ctcagtgtga ttttaaacca
     5641 aattgtcttc ctgtagtcac aatatatact gtagcctttt aacagcaagt cttgctttcc
     5701 caaacagaaa gccattctga aaccctacag tatcacaggt gagaaaaggt ggttattttt
     5761 tccccaagac aacagcacta gtaatcccac ttaataagag cttatttaat tggatgtcag
     5821 cctcttaact gctaagcact ttgtgggtct cagcgttttt cataaaagaa cttttgtatt
     5881 taatacaaag tttgctttga gacttttcag catatgatct tttttccata aacttgtaca
     5941 gtgcaaaaga cattttgaat accatgatcg atgatgtccc atgcttcgag gaaaaccaaa
     6001 cactttccgc ctctcttgca aaatccattc ctcatgctga ccctcctcac gatggctgtg
     6061 tcagcccagc cccttccctt ctccaggccc agagaactct tccacaaaca agatgagagc
     6121 cactcgggaa aagagccata gtcaactggg agggcctaca tctggatggc ggtggaaaaa
     6181 cttgagggtt tggggttcaa agtcagccca tcccacctgg caaaatcctc ctggaaggag
     6241 gaccttcaag agcgcatcac ctgaatgtcg tgaagaagta tctctgaatg tatccaggag
     6301 aggaactgca taaccaaagg ggtgaccagc cctcagatgt gcttattgga ttccagtaca
     6361 aacgccacca aagccagccc actgctctcc tacaaggaag gaaagatctg cacgtgtaaa
     6421 acatggggca gccttggaac atggtgtttt ttggagtttc ctttctcaca gttttccatc
     6481 tccccacttc tttgatcagt catgtgtccg tgacctcgtt ccatgacatc aggatagctg
     6541 tgtttgcaca ccatgctcca tgttcattcg gagccaggag gggttctcag tggagcctgg
     6601 cttagggaac agggagcgat ggaagaatgc caacattagc gttggtcttc tcttgtcagg
     6661 aatgaaggat gcttgcacac atgcaccccc tcactctcac acttgcacac atacacacac
     6721 acacacacga aatggttggt ttgtcaaaac tcactgtagt acataaagct tgcactctgc
     6781 gtcctatatc tagcagcatg gggtacgttt ggcagttcac tccattaggg ggtaaataat
     6841 ttatgaccat tcatctgttt ttatgaattt ttttatctag acaataatgt aaataaagaa
     6901 ctcaccatct ctgttcattt aatactatgc aatggttatg ctttcaatcg ctggctcttc
     6961 tgactcgtgc agtgtggttc tgaaatgttt gtggtttaaa aaaaaaagca aaaaacaaca
     7021 tcaaacagaa catagtaaat atatctgtaa tgtatacttt tttctacttt gggactgcat
     7081 catccacata gcttcttttc tgtcctctag acaagggctc caggagtaag tggcagattt
     7141 ggttctgaga gctaagctca ccaacttgtc tccccctcaa cagatgaggg aagggcaggg
     7201 agcccgttca gtgactcctg gcgctgcaga atcactcatc tttggaggtg agcagagaga
     7261 gctctgagga gtttccttct tgcaactcag gcggagcttt ctttaactca ggagcagcct
     7321 ccattgctcc cgccaacccc tcaccatggc cccttgtccc cttgtcccaa ccatagcata
     7381 gagatgacaa gagagaggca gtcctatttc tgagactgga ccaattaaaa tgactgcact
     7441 ggctcaaagg actctgaacc tgtcttgtcc tgggtcctcc agttgttgga agccactctt
     7501 ttccccaacc atgctgaaat gccaccttta ccacacactg atgtcttaca tagacttaga
     7561 tctatttctg gaacttctct tctcttcgct tacttgggtg tctcatctgg caccagccat
     7621 acaattttaa ctattgtcaa tttctaatgt cttattatgt ggtgggatga gtcccttcac
     7681 tcttctttta caaaatttcc tagttattct ctcacatcta ttcttccaca taaactttaa
     7741 attgtgccca gtcctccacc ccctgtccca ttcccacccc caaattctgg gctctgtcat
     7801 tccctgtgcc atcatcttcc ccccattgta attactgtcc actcagggct gtgaaataga
     7861 ctatgttctg taaagaggga caaaaagggc atcctgatct tgagagaagc ctgctgttcc
     7921 tcccatcatt tcacctgccc cctaagccca ggagttgtca tgagaggtca ccaggccccc
     7981 actcaatctc agcttgggaa ccaaagtcac ccaccttggt tgtgttgggg tggacccgcc
     8041 atctgtccct ggtccagacg agaaagagga gtctctccta ggcctggagc tgggaaagaa
     8101 tgtgtggccc agttgtctgc acttctaatt ctcatcatgg agaaaccttt attcctatct
     8161 ccctttcctg aactggtttt ttgttgtttt tgtttcattt tgttttgggg ggatagtttc
     8221 ttgctcttta atttggagtc tccagtacct ttgggatgca ggcagttctt gcctgggcct
     8281 tctcggaacc ctcactcccc tagcccactc ttgcgctacc tgcaggaggc tgccaacctg
     8341 gtgcattctg acaagcctcc cacccaaatc tctctcctgc cattgtgtcc aaaatcccac
     8401 cattagaggc tcttgtaggg aagagcgttt cttgaaggct tttaggcctt ccagagccag
     8461 gagggaagtc agacaatagc aggaagtccc caggcctttt caaagttcca aaccaagctc
     8521 tcctgatttt aatgtagaga tcataccaac ccaggtgggg gaggagggtc cccagcccca
     8581 ggcagcagcc atcaccccct ccactgaaaa caatattgga ggctgctttg ggactgccct
     8641 tctcagcccc ctaagtctgt tttgtaatgc ctgtggtgct ctccctcctg gacctttcct
     8701 ctcgggggtc accacacttt gctaactctt gtgtgcacat attttataat agagtagcga
     8761 gggaatggtg ccgcctccag cttccgtaag ctgcccgggc tctggggggc tctgggacaa
     8821 tcggggctgg gaagtgactg tgctcttatt gtacactctt tatttctctg tatctttggc
     8881 ttgtgctctt tgtaattaat gggatttgtc tgccttttca acactatact gagcaataac
     8941 aataaatgca cacgtggaaa tgca
//
LOCUS       NM_001001343            2083 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA.
ACCESSION   NM_001001343
VERSION     NM_001001343.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2083)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.93486.1,
            SRR1803614.80331.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142670 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000312349.5/ ENSP00000310594.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA173480.1, BC022570.1, DB567325.1 and AC016571.7.
            On Nov 23, 2018 this sequence version replaced NM_001001343.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2083
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.3"
     gene            1..2083
                     /gene="FNDC9"
                     /gene_synonym="C5orf40"
                     /note="fibronectin type III domain containing 9"
                     /db_xref="GeneID:408263"
                     /db_xref="HGNC:HGNC:33547"
     misc_feature    22..24
                     /gene="FNDC9"
                     /gene_synonym="C5orf40"
                     /note="upstream in-frame stop codon"
     CDS             145..819
                     /gene="FNDC9"
                     /gene_synonym="C5orf40"
                     /note="fibronectin type-III domain-containing protein
                     C5orf40"
                     /codon_start=1
                     /product="fibronectin type III domain-containing protein 9"
                     /protein_id="NP_001001343.2"
                     /db_xref="CCDS:CCDS4337.1"
                     /db_xref="GeneID:408263"
                     /db_xref="HGNC:HGNC:33547"
                     /translation="MNIEVGNISYTGAIISWSSSEPCLEDYYHIMYRPNWNSIFSGYLR
                     YSFHHEEKVPRTISSVVLEHLAPSTLYFLCISCKKAAFPYRHYCTMFHTLDKSPLAPGS
                     SLVDPQISLWVLMAILLACFTAVLAFICLQFWCVRCHEPRWSYRAGHMEEANGLVRWPE
                     EAPDLGQREEDLQGLPLVEMPRKNSRDGAELDPEANQDAPDAGALQRGGGDPPAILPHC
                     GE"
     misc_feature    481..543
                     /gene="FNDC9"
                     /gene_synonym="C5orf40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TBE3.2);
                     transmembrane region"
     misc_feature    667..816
                     /gene="FNDC9"
                     /gene_synonym="C5orf40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TBE3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1629..1634
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FNDC9"
                     /gene_synonym="C5orf40"
                     /note="hexamer: AATAAA"
     polyA_site      1650
                     /gene="FNDC9"
                     /gene_synonym="C5orf40"
     regulatory      2062..2067
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FNDC9"
                     /gene_synonym="C5orf40"
                     /note="hexamer: AATAAA"
     polyA_site      2083
                     /gene="FNDC9"
                     /gene_synonym="C5orf40"
                     /note="major polyA site"
ORIGIN
        1 ggcagtggga ttactcagtg ttgagagaaa caacacggaa agcccagagc agaggaggga
       61 gaaggcccca ttctctcagc tttaatctac tgcacctcgg agggcagagc tctaaccaga
      121 cacgctgcaa gcatcagaat cgggatgaac atcgaggtgg ggaacatttc ttatacagga
      181 gccatcatct cctggtcgtc ctcggagccc tgcctggagg actattacca tattatgtac
      241 aggcccaact ggaacagcat cttctctggc tatcttcgct acagcttcca ccacgaggag
      301 aaggtgcctc gaacgatcag ctccgtggtg ctggaacatc ttgccccttc cactctctac
      361 ttcctgtgca tcagctgtaa gaaggctgcc ttcccttaca ggcactactg caccatgttc
      421 cacaccctgg ataagagtcc gctggctcct ggaagctccc tggtagaccc ccagatctcc
      481 ctttgggtgc tgatggccat tctgctggcc tgcttcacag ccgtcttggc cttcatctgc
      541 ctccagttct ggtgtgtccg ttgccatgag ccgcgatggt cttacagggc tggccacatg
      601 gaggaggcca atgggttggt gagatggcca gaggaggccc cggatcttgg tcagagggag
      661 gaagacctgc aggggctccc cctggtggaa atgccacgca agaactccag agatggagct
      721 gaactggatc ccgaagccaa ccaggatgcc cctgatgcgg gtgccttaca gagggggggt
      781 ggtgacccac ccgctatact gcctcattgt ggggaatgag agtggggagg agagcgcccg
      841 catcatgtag cctaaagctt tccacacagt aggtcgtttg tacaaatgtg tctatagact
      901 acccatttct ctcccatcaa acgtcactgc tattgtaggt cacctgggtt ggatgaatgc
      961 cccatgacaa agcttctcaa gctggaaaat gtatccccca gggtatgcca aggcacaaac
     1021 gaggcatctc agcagcagcg tccactcgga ggacacagtt aagaattgaa agcattgttt
     1081 taacattaaa acaaacatgg atatgttata aagtagaaag caaaaatttg catgacaaat
     1141 aaaacacagc acttgaagga aacacttgag ttacaagtag gctctcagag gtacactttt
     1201 gggcaaaggt agatgtccag tttcctctgc ccttgagggg attatttgga aataatttgg
     1261 gattatttgg aaataatttg tgagaaccct tgctctggag tgttttccaa cttttaggca
     1321 atcacatacc accgctctct attttttaaa accatggatt atcttcacta ttattaataa
     1381 tactttcctt taaattgact cattttttaa gcgtaaactt attttcaaag acagccttat
     1441 attactccat aagtgaaaaa ccagcaccct cctgctgcaa acagaaggga agagacataa
     1501 gaataaacat catgaaaaca agataatatt aaataatctg acttagcttc tattgcctgc
     1561 cagtgattct gagcttaatg cctgcttgct tgtctttgat aaaaagggag atccagtgtt
     1621 ggagaggtaa taaagacata ttagcaccaa tatttgtctt tctccttgat atagcataag
     1681 gtttgaaaga gaatcgaaaa gggaagtgct gtttttactt tgcgagtcag tgttagttaa
     1741 atgccatgtc tgtgaaccac ctcaaatgct gtcagtcagc ttcccttgat ttgagaaaat
     1801 tgtcttgacc agactaggca ggctgttctg gagaagacgc ctgtactctc caagcatcat
     1861 ccaagacctt cccagtaccc tcttatatct atagagcaca aaatcccaga atcacaggac
     1921 gacactgcag tgaatcaact aagaaacagc aggagctgag aagccaagac gagaagcccc
     1981 acatccctat tcccttgcct acctcatgca ttccctgctc ggcacccaga cttttgcccc
     2041 cattcctgct acttgtgaac aaataaagat tcatatactc aca
//
LOCUS       NM_001001344            6774 bp    mRNA    linear   PRI 21-MAR-2023
DEFINITION  Homo sapiens ATPase plasma membrane Ca2+ transporting 3 (ATP2B3),
            transcript variant 2, mRNA.
ACCESSION   NM_001001344
VERSION     NM_001001344.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6774)
  AUTHORS   Vallese F, Maso L, Giamogante F, Poggio E, Barazzuol L, Salmaso A,
            Lopreiato R, Cendron L, Navazio L, Zanni G, Weber Y,
            Kovacevic-Preradovic T, Keren B, Torraco A, Carrozzo R, Peretto F,
            Peggion C, Ferro S, Marin O, Zanotti G, Cali T, Brini M and Carafoli
            E.
  TITLE     The ataxia-linked E1081Q mutation affects the sub-plasma membrane
            Ca2+-microdomains by tuning PMCA3 activity
  JOURNAL   Cell Death Dis 13 (10), 855 (2022)
   PUBMED   36207321
  REMARK    GeneRIF: The ataxia-linked E1081Q mutation affects the sub-plasma
            membrane Ca(2+)-microdomains by tuning PMCA3 activity. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 6774)
  AUTHORS   Vicario M, Cali T, Cieri D, Vallese F, Bortolotto R, Lopreiato R,
            Zonta F, Nardella M, Micalizzi A, Lefeber DJ, Valente EM, Bertini E,
            Zanotti G, Zanni G, Brini M and Carafoli E.
  TITLE     A novel PMCA3 mutation in an ataxic patient with hypomorphic
            phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical
            characterization of the pump defect
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1863 (12), 3303-3312 (2017)
   PUBMED   28807751
  REMARK    GeneRIF: Authors report a novel PMCA3 mutation (G733R substitution)
            in the catalytic P-domain of the pump in a patient affected by
            non-progressive ataxia, muscular hypotonia, dysmetria and nystagmus.
REFERENCE   3  (bases 1 to 6774)
  AUTHORS   Cali T, Frizzarin M, Luoni L, Zonta F, Pantano S, Cruz C, Bonza MC,
            Bertipaglia I, Ruzzene M, De Michelis MI, Damiano N, Marin O, Zanni
            G, Zanotti G, Brini M, Lopreiato R and Carafoli E.
  TITLE     The ataxia related G1107D mutation of the plasma membrane Ca2+
            ATPase isoform 3 affects its interplay with calmodulin and the
            autoinhibition process
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1863 (1), 165-173 (2017)
   PUBMED   27632770
  REMARK    GeneRIF: The ataxia related G1107D mutation of the PMCA 3 impairs
            its calcium pumping function. The mutation affects the interplay of
            calmodulin with its binding domain on the pump, decreasing its
            stimulation.
REFERENCE   4  (bases 1 to 6774)
  AUTHORS   Tauber P, Aichinger B, Christ C, Stindl J, Rhayem Y, Beuschlein F,
            Warth R and Bandulik S.
  TITLE     Cellular Pathophysiology of an Adrenal Adenoma-Associated Mutant of
            the Plasma Membrane Ca(2+)-ATPase ATP2B3
  JOURNAL   Endocrinology 157 (6), 2489-2499 (2016)
   PUBMED   27035656
  REMARK    GeneRIF: In summary, the APA-associated ATP2B3(Leu425_Val426del)
            mutant promotes aldosterone production by at least 2 different
            mechanisms: 1) a reduced Ca(2+) export due to the loss of the
            physiological pump function; and 2) an increased Ca(2+) influx due
            to opening of depolarization-activated Ca(2+) channels as well as a
            possible Ca(2+) leak through the mutated pump.
REFERENCE   5  (bases 1 to 6774)
  AUTHORS   Fernandes-Rosa FL, Giscos-Douriez I, Amar L, Gomez-Sanchez CE,
            Meatchi T, Boulkroun S and Zennaro MC.
  TITLE     Different Somatic Mutations in Multinodular Adrenals With
            Aldosterone-Producing Adenoma
  JOURNAL   Hypertension 66 (5), 1014-1022 (2015)
   PUBMED   26351028
  REMARK    GeneRIF: Different mutations (KCNJ5, ATP1A1, ATP2B3, and CACNA1D)
            are found in different aldosterone-producing nodules from the same
            adrenal, suggesting that somatic mutations are independent events
            triggered by mechanisms that remain to be identified.
REFERENCE   6  (bases 1 to 6774)
  AUTHORS   Moller JV, Juul B and le Maire M.
  TITLE     Structural organization, ion transport, and energy transduction of
            P-type ATPases
  JOURNAL   Biochim Biophys Acta 1286 (1), 1-51 (1996)
   PUBMED   8634322
  REMARK    Review article
REFERENCE   7  (bases 1 to 6774)
  AUTHORS   Wang MG, Yi H, Hilfiker H, Carafoli E, Strehler EE and McBride OW.
  TITLE     Localization of two genes encoding plasma membrane Ca2+ ATPases
            isoforms 2 (ATP2B2) and 3 (ATP2B3) to human chromosomes 3p26-->p25
            and Xq28, respectively
  JOURNAL   Cytogenet Cell Genet 67 (1), 41-45 (1994)
   PUBMED   8187550
REFERENCE   8  (bases 1 to 6774)
  AUTHORS   Stauffer TP, Hilfiker H, Carafoli E and Strehler EE.
  TITLE     Quantitative analysis of alternative splicing options of human
            plasma membrane calcium pump genes
  JOURNAL   J Biol Chem 268 (34), 25993-26003 (1993)
   PUBMED   8245032
  REMARK    Erratum:[J Biol Chem. 1994 Dec 16;269(50):32022. PMID: 7989379]
REFERENCE   9  (bases 1 to 6774)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301317
REFERENCE   10  (bases 1 to 6774)
  AUTHORS   Brandt P, Neve RL, Kammesheidt A, Rhoads RE and Vanaman TC.
  TITLE     Analysis of the tissue-specific distribution of mRNAs encoding the
            plasma membrane calcium-pumping ATPases and characterization of an
            alternately spliced form of PMCA4 at the cDNA and genomic levels
  JOURNAL   J Biol Chem 267 (7), 4376-4385 (1992)
   PUBMED   1531651
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: U60414.1, BC130009.1 [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263519.5/ ENSP00000263519.4
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U82695.3 and AF274858.3.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Oct 27, 2020 this sequence version replaced
            XM_005274690.3, NM_001001344.2.
            Summary: The protein encoded by this gene belongs to the family of
            P-type primary ion transport ATPases characterized by the formation
            of an aspartyl phosphate intermediate during the reaction cycle.
            These enzymes remove bivalent calcium ions from eukaryotic cells
            against very large concentration gradients and play a critical role
            in intracellular calcium homeostasis. The mammalian plasma membrane
            calcium ATPase isoforms are encoded by at least four separate genes
            and the diversity of these enzymes is further increased by
            alternative splicing of transcripts. The expression of different
            isoforms and splice variants is regulated in a developmental,
            tissue- and cell type-specific manner, suggesting that these pumps
            are functionally adapted to the physiological needs of particular
            cells and tissues. This gene encodes the plasma membrane calcium
            ATPase isoform 3. Alternatively spliced transcript variants
            encoding different isoforms have been identified. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (2) lacks an exon in the coding
            region, which leads to a frameshift, compared to variant 1. The
            resulting isoform (3b) contains a longer and distinct C-terminus
            compared to isoform 3a. Variants 2 and 4 encode the same isoform.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6774
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..6774
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="ATPase plasma membrane Ca2+ transporting 3"
                     /db_xref="GeneID:492"
                     /db_xref="HGNC:HGNC:816"
                     /db_xref="MIM:300014"
     misc_feature    460..462
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="upstream in-frame stop codon"
     CDS             481..4143
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /EC_number="7.2.2.10"
                     /note="isoform 3b is encoded by transcript variant 2;
                     plasma membrane calcium pump; plasma membrane
                     calcium-transporting ATPase 3; plasma membrane calcium
                     ATPase; cilia and flagella associated protein 39; ATPase,
                     Ca++ transporting, plasma membrane 3"
                     /codon_start=1
                     /product="plasma membrane calcium-transporting ATPase 3
                     isoform 3b"
                     /protein_id="NP_001001344.1"
                     /db_xref="CCDS:CCDS35440.1"
                     /db_xref="GeneID:492"
                     /db_xref="HGNC:HGNC:816"
                     /db_xref="MIM:300014"
                     /translation="MGDMANSSIEFHPKPQQQRDVPQAGGFGCTLAELRTLMELRGAEA
                     LQKIEEAYGDVSGLCRRLKTSPTEGLADNTNDLEKRRQIYGQNFIPPKQPKTFLQLVWE
                     ALQDVTLIILEVAAIVSLGLSFYAPPGEESEACGNVSGGAEDEGEAEAGWIEGAAILLS
                     VICVVLVTAFNDWSKEKQFRGLQSRIEQEQKFTVIRNGQLLQVPVAALVVGDIAQVKYG
                     DLLPADGVLIQANDLKIDESSLTGESDHVRKSADKDPMLLSGTHVMEGSGRMVVTAVGV
                     NSQTGIIFTLLGAGGEEEEKKDKKGKQQDGAMESSQTKAKKQDGAVAMEMQPLKSAEGG
                     EMEEREKKKANAPKKEKSVLQGKLTKLAVQIGKAGLVMSAITVIILVLYFVIETFVVEG
                     RTWLAECTPVYVQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKMMKDNNLVRHL
                     DACETMGNATAICSDKTGTLTTNRMTVVQSYLGDTHYKEIPAPSALTPKILDLLVHAIS
                     INSAYTTKILPPEKEGALPRQVGNKTECALLGFVLDLKRDFQPVREQIPEDKLYKVYTF
                     NSVRKSMSTVIRMPDGGFRLFSKGASEILLKKCTNILNSNGELRGFRPRDRDDMVRKII
                     EPMACDGLRTICIAYRDFSAGQEPDWDNENEVVGDLTCIAVVGIEDPVRPEVPEAIRKC
                     QRAGITVRMVTGDNINTARAIAAKCGIIQPGEDFLCLEGKEFNRRIRNEKGEIEQERLD
                     KVWPKLRVLARSSPTDKHTLVKGIIDSTTGEQRQVVAVTGDGTNDGPALKKADVGFAMG
                     IAGTDVAKEASDIILTDDNFTSIVKAVMWGRNVYDSISKFLQFQLTVNVVAVIVAFTGA
                     CITQDSPLKAVQMLWVNLIMDTFASLALATEPPTESLLLRKPYGRDKPLISRTMMKNIL
                     GHAVYQLAIIFTLLFVGELFFDIDSGRNAPLHSPPSEHYTIIFNTFVMMQLFNEINARK
                     IHGERNVFDGIFSNPIFCTIVLGTFGIQIVIVQFGGKPFSCSPLSTEQWLWCLFVGVGE
                     LVWGQVIATIPTSQLKCLKEAGHGPGKDEMTDEELAEGEEEIDHAERELRRGQILWFRG
                     LNRIQTQIRVVKAFRSSLYEGLEKPESKTSIHNFMATPEFLINDYTHNIPLIDDTDVDE
                     NEERLRAPPPPSPNQNNNAIDSGIYLTTHVTKSATSSVFSSSPGSPLHSVETSL"
     misc_feature    481..549
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    502..504
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64568; propagated from
                     UniProtKB/Swiss-Prot (Q16720.3); phosphorylation site"
     misc_feature    772..834
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3);
                     transmembrane region"
     misc_feature    946..1008
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3);
                     transmembrane region"
     misc_feature    1372..1545
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1573..1632
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3);
                     transmembrane region"
     misc_feature    1732..1785
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3);
                     transmembrane region"
     misc_feature    3028..3087
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3);
                     transmembrane region"
     misc_feature    3118..3180
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3);
                     transmembrane region"
     misc_feature    3241..3309
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3);
                     transmembrane region"
     misc_feature    3364..3429
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3);
                     transmembrane region"
     misc_feature    3487..3552
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3);
                     transmembrane region"
     misc_feature    3583..3648
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3);
                     transmembrane region"
     misc_feature    3715..3717
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q64568; propagated from
                     UniProtKB/Swiss-Prot (Q16720.3); phosphorylation site"
     misc_feature    3769..3822
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3);
                     Region: Calmodulin-binding subdomain A.
                     /evidence=ECO:0000250"
     misc_feature    3817..3819
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="Phosphothreonine, by PKC. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q16720.3);
                     phosphorylation site"
     misc_feature    3823..3852
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3);
                     Region: Calmodulin-binding subdomain B.
                     /evidence=ECO:0000250"
     misc_feature    3976..4038
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16720.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      6742..6747
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="hexamer: TATAAA"
     polyA_site      6774
                     /gene="ATP2B3"
                     /gene_synonym="CFAP39; CLA2; OPCA; PMCA3; PMCA3a; SCAX1"
                     /note="major polyA site"
ORIGIN
        1 agagctgcgg ttggagccga gcgcgccgcg tcgcccgccg ccggtgcaga gcgtggggag
       61 cactcggccg cagccctcgc ccgccgcaga gggtcgcgtc ccgcgccgcc ggccaggccg
      121 ccccgtgccc aggcctttcc atccttggag cggatcgttg cccgcctgac gcccgcccgc
      181 agcgacagcg cccgccggag ccgaggccgc ggcggcggcc gtgcccatgc ccgggaacgg
      241 ctgtctcccc ctcctcgcct gtgtgacctt ggccagccag cttttcctgt ggccgcctgc
      301 gttttctcac gggtgaaagc tctggcttta agattctgga atttggaatg gcaggtgtcc
      361 acgcttagca gctttctcac cgccgccaaa ccttgcctgg gcactgggac cgtgggtggc
      421 cgcctgtccc tagctgtggc tgagccaaga ttgcacttgt gagaaggcct gacaggcagc
      481 atgggcgaca tggccaatag ttccatcgag ttccacccca agccccagca gcagcgggat
      541 gtcccccagg ctggaggctt tgggtgcacg ctggcggagc tgcgcaccct catggagctg
      601 cgaggggccg aggcgctgca gaagatcgag gaggcctacg gggatgtcag cgggctctgc
      661 cggaggctga agacctcacc cacagagggc ctggcggaca acaccaatga cctggagaag
      721 cgcaggcaga tctacgggca gaacttcatc cccccaaagc aacccaagac cttcctgcag
      781 ctggtgtggg aggccctgca ggacgtgacc ctcatcatcc tggaggtggc tgccatcgtc
      841 tctctgggcc tctcgttcta tgcgccgcca ggagaggaga gtgaagcctg tgggaatgtg
      901 tcgggaggcg cagaagatga gggcgaggcc gaagctggct ggatcgaggg ggctgccatc
      961 ctgctgtccg tcatctgtgt ggtgctggtc acggccttca atgactggag caaggagaag
     1021 cagttccgag gcctgcagag ccgaattgag caggagcaga agttcacggt catccggaac
     1081 gggcagctcc tccaggtccc cgtggctgcg ctggtggtgg gggacattgc ccaggtcaag
     1141 tacggcgacc tgctgccagc cgacggcgtg ctcatccagg ccaatgacct caagatcgac
     1201 gagagctccc tgacgggcga gtctgaccac gtgcgcaagt cagctgacaa agatcccatg
     1261 ctgctctcag gcactcatgt catggaaggt tctggaagaa tggtggtgac cgccgttggc
     1321 gtgaattccc agacaggcat catcttcacg ctgcttggag ctggcggaga ggaggaagag
     1381 aagaaagata agaaaggcaa gcagcaggat ggggccatgg agagtagcca gaccaaagct
     1441 aagaagcagg atggtgcagt ggccatggag atgcagcccc tgaagagcgc ggagggtggg
     1501 gagatggagg agcgggagaa gaagaaagcc aacgcaccca aaaaggagaa gtctgtcctt
     1561 caggggaagc tcacaaagct agccgtgcag atcgggaaag cagggctggt gatgtctgcc
     1621 atcaccgtca tcatcctggt cctctacttt gtgattgaga cgtttgtcgt ggaaggccgg
     1681 acatggctgg cagagtgcac gccggtctat gtacaatact tcgtgaagtt cttcatcatt
     1741 ggtgtcactg tgctggtcgt ggctgtccca gagggcctgc ctcttgctgt caccatctcc
     1801 ttagcttact ctgtcaagaa aatgatgaaa gacaacaacc tggtgcgcca cctggatgcc
     1861 tgcgagacca tgggcaacgc cacagccatc tgctccgaca agacgggcac gctcaccacc
     1921 aaccgtatga ccgtggtcca gtcctaccta ggagacaccc actacaaaga gattccggcc
     1981 cccagcgccc tgacccctaa gatcctcgac ctcctggtcc atgccatctc catcaacagt
     2041 gcctatacca ccaaaatact acctcctgag aaggaaggcg ccctcccacg ccaggtgggc
     2101 aataagacgg agtgcgccct gctgggcttc gtcttggacc tgaagcggga cttccagccc
     2161 gtgcgcgagc agatcccgga agacaagctt tacaaagtgt acaccttcaa ctcggtccgc
     2221 aagtccatga gcacagtcat ccgcatgccc gacggtggct tccgcctctt cagcaagggg
     2281 gcctcagaga tcctcttgaa aaagtgcacc aacatcttga acagcaatgg cgaactccgg
     2341 ggctttcggc ctcgggaccg ggacgacatg gtgaggaaga tcatcgagcc gatggcttgc
     2401 gatggcctcc gcaccatctg catcgcctac cgggacttct ctgcaggcca ggagcccgac
     2461 tgggacaacg agaatgaggt cgtgggtgac ctcacctgca tagctgtcgt gggcattgag
     2521 gaccctgtgc ggcccgaggt ccctgaagct atccgaaaat gccagcgtgc tggcatcaca
     2581 gtccgcatgg tgactgggga caacatcaac acggcccggg ccatcgcagc caaatgcggc
     2641 atcatccagc ccggggagga cttcctgtgc ctagaaggga aggagttcaa ccggcggatc
     2701 cgcaatgaga aaggcgagat agaacaggag cggctggaca aggtgtggcc caagctgagg
     2761 gtgctggccc ggtcgtctcc caccgacaag cacacactgg tcaaagggat tatcgacagc
     2821 accactggtg agcagcggca ggtggtggct gtgacagggg atggcaccaa cgatgggccg
     2881 gccctcaaga aggcggacgt gggcttcgcc atgggcatcg cagggaccga cgtggccaag
     2941 gaggcctccg acatcatcct gaccgatgac aacttcacca gcatcgtcaa ggcagtcatg
     3001 tggggccgta acgtctatga cagcatctcc aagttcctgc agtttcaact gacggtcaat
     3061 gtggtggctg tgatcgtggc cttcacaggt gcctgcatta ctcaggactc tcctctcaaa
     3121 gccgtgcaga tgttgtgggt gaacttgatc atggacacat ttgcctctct ggccctggcg
     3181 acggagccac ccacagagtc gctgctgctg cggaagccgt acggccgcga caagcccctc
     3241 atctcccgca ccatgatgaa gaacattctg ggccacgccg tgtaccagct cgccatcatc
     3301 ttcaccctgc tgtttgtcgg ggagctcttc ttcgacatcg acagcgggag gaatgcgccc
     3361 ctgcactcgc caccctcaga gcactacacc atcatcttca acacgttcgt catgatgcag
     3421 ctctttaacg agatcaacgc ccgcaagatc cacggcgaga ggaacgtgtt cgacggcatc
     3481 ttcagcaacc ccatcttctg caccatcgtt ttgggcactt tcgggattca gattgtcatc
     3541 gtccagtttg gcgggaagcc cttcagctgc tccccactat ccacagaaca gtggctctgg
     3601 tgcctgtttg ttggtgttgg ggagctggtc tggggacagg tcattgccac catccccacc
     3661 agccagctca agtgcctgaa ggaagccggg cacgggcccg ggaaggacga gatgaccgac
     3721 gaggagctgg ccgaaggcga ggaagagatc gaccatgccg agcgggagct ccgcaggggc
     3781 cagatcctct ggttccgggg cctgaaccgg attcagacgc agatccgggt ggtgaaagcg
     3841 ttccgtagct cgctctatga aggcctggag aaaccagaat ccaagacctc cattcacaac
     3901 ttcatggcca cgcccgagtt tctgatcaat gactacaccc acaacatccc gctcattgac
     3961 gacacggacg tggacgagaa cgaggagcgc ctccgggccc ccccgccccc gtcccccaac
     4021 cagaacaaca acgccataga cagcggcatc tacctgacca cgcatgtcac caagtcagct
     4081 acctcttcag tgttttcctc cagtcccggg agcccgctcc acagcgtgga gacgtccctc
     4141 taacaagaac ttgtctcagc acatgcgcac acgcacactc ggactcacac gaagtcacac
     4201 gcacacatgc acgcacacac acatatgggg acctgcacac ctgcaaaacg agggaacaac
     4261 taaggtggct gaagaccttt ctggcagggc atttgcaagg acccaaatcc attcaacaag
     4321 ggtgcagcct gccacaggct cctcatccgg actgaggaag acgaggacag ggaggaggaa
     4381 aaggaggaag aggaggacaa aaagggggag gagaaggttc ttcgtccaaa ggaggaagga
     4441 gaagaagtag aaagtgcgaa gagctgagtt ccccaccttt ttttctattg atgcttcttt
     4501 tttaacaaac tacagtttta ccgtgtgttt gccatttgag ctgtgtggtg ggcagggggc
     4561 tggtttgggt ttatggggag cttttgttgc acccatgcag gggcaatcag atcagcatct
     4621 tcatgcaaaa aaaaaaaaaa agttgagtgc tctgcaggcc tgtgaagggt gccacctgag
     4681 ggagccgcct gcaagcggcc ctgcagccac aaagcaaccc gccctctgca aaaactaggc
     4741 acatccgcag tgcgcatgtg tgtgcgtgca tgcacatatg tgtatgtgtg tggatctgta
     4801 cacacacacg tatatatggc cagatgcgta tttcaataag gaactattta ctggcatgat
     4861 atttgcattc ctcttatcag gcattttcat ttggaaattt cattattgaa tgtagcaagg
     4921 ttgtagttgt tttttttttt ttttcaggga actagactgc aagaatatct ttctggtcaa
     4981 cccatttttg tccctcatca ccccgccccc acctttcgct cctgccctct gcccggccct
     5041 actgagattc ccaaggagaa ggccgagagg gggcgctcca ggtctggagc aggtataatt
     5101 ggagcatttg cactgagacc cctgccagag aggagaaaac cctttcaagg gaaattttaa
     5161 tctaaaagga aaaaaccaaa atattgatga gaaggagtcc tccagttagt gaaaggggag
     5221 tttcgttttc agctttcttt ggttcctact ccaattccac atccttcatc ctggccatgc
     5281 ccccaccttc aagagcatga agcactcttg gagttgtggg tcctgcccag agtccagaga
     5341 gcagcctcag ctgagcacag gtccgagggg gcgggggcag ggccaagagt tcaaaagaag
     5401 ccaatggagg gagagggagc gtcagaagcc cggaggagct ggtggtggga gaatgacggc
     5461 agggacgcag ccacagttca gaccctgtcc cctcagcacc tggatggact cccactgttt
     5521 gctttggcaa atgccgagga gtcctcggta gaccaccttg atgtctgctg tgacatcaga
     5581 ggtgccacca ccaaagcact cttcccaccc tagtctttgt gtccagcggc caagcttaag
     5641 ccatgaagtc atggatttgt ggctcagcac caggtcctga ggggagcgta tcctggcagt
     5701 gtgggcacct ggtggccaag cctcagtttc ccccaaatga gcaaagggga taaagagggg
     5761 cccgactttt gccaccctcc tgaggaagcc cctaggtcca cacagtgatg ccatggggga
     5821 cccttgcctt ccacacttgc aggtgtcacg ttttgcaggg aggtgtttgg gccttgggct
     5881 cagccactgg gagacagttg ggacctgagg gacagaggat cggaatggaa accaccaacg
     5941 tgcactggca ccctcagaag gcttgtctca cctccaccgg catccacaca aaaccaaaca
     6001 ggagcaggcg tcatccccac tattcccatg aatgccatgt cacccctgag cagaagcagt
     6061 caaatcttgg gcaaaagaat ttcggttaga aaagaaaatc ccactttaaa atgccagctg
     6121 cagataactc aaagccatcc cttttttcta aagggcacat tgagaatgtc acccatttgt
     6181 aaactgttcc ctgatgtcct tgtttaaacg ataataagaa aaagggcaac tccatttgtt
     6241 gagggtcttt gtgttcttca atgagaaatc aaatttgaga cgttgaaatt ggagctgcgt
     6301 gctgctgcac tcaccggctt cttctcactc tctgtcgtag acacaccgat aggaccaatg
     6361 gccaatagat attaaaagca aaccctcact gctgctgtat aaagttgcct aatgtaaatg
     6421 tctattgttt agtccctagg tcacctttgt gctgtgctgt ggagttcaga aacggggtac
     6481 catgacctgg aatcttttgc tcttgttttt gcagtcttca aggctggggg ccctgtctca
     6541 ttgggaagcc cctctttata aagcattata ttacttggaa tggcttggtc aactgtgttc
     6601 agttcataaa tatgttttac atttttatct gcctgttata aagatgaaca aaaaaactta
     6661 atgagaaaga tcacagatac gtaataattt aaagtctgta gttgaatttc ctaacttaaa
     6721 gaatagacca aaatttctgt gtataaaaaa aaatgaaagg ctccttacat cctg
//
LOCUS       NM_001001346            1209 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens claudin 20 (CLDN20), mRNA.
ACCESSION   NM_001001346
VERSION     NM_001001346.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1209)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1209)
  AUTHORS   Berndt P, Winkler L, Cording J, Breitkreuz-Korff O, Rex A, Dithmer
            S, Rausch V, Blasig R, Richter M, Sporbert A, Wolburg H, Blasig IE
            and Haseloff RF.
  TITLE     Tight junction proteins at the blood-brain barrier: far more than
            claudin-5
  JOURNAL   Cell Mol Life Sci 76 (10), 1987-2002 (2019)
   PUBMED   30734065
REFERENCE   3  (bases 1 to 1209)
  AUTHORS   Lal-Nag M and Morin PJ.
  TITLE     The claudins
  JOURNAL   Genome Biol 10 (8), 235 (2009)
   PUBMED   19706201
  REMARK    Review article
REFERENCE   4  (bases 1 to 1209)
  AUTHORS   Angelow S, Ahlstrom R and Yu AS.
  TITLE     Biology of claudins
  JOURNAL   Am J Physiol Renal Physiol 295 (4), F867-F876 (2008)
   PUBMED   18480174
  REMARK    Review article
REFERENCE   5  (bases 1 to 1209)
  AUTHORS   Krause G, Winkler L, Mueller SL, Haseloff RF, Piontek J and Blasig
            IE.
  TITLE     Structure and function of claudins
  JOURNAL   Biochim Biophys Acta 1778 (3), 631-645 (2008)
   PUBMED   18036336
  REMARK    Review article
REFERENCE   6  (bases 1 to 1209)
  AUTHORS   Tsukita S and Furuse M.
  TITLE     Claudin-based barrier in simple and stratified cellular sheets
  JOURNAL   Curr Opin Cell Biol 14 (5), 531-536 (2002)
   PUBMED   12231346
  REMARK    Review article
REFERENCE   7  (bases 1 to 1209)
  AUTHORS   Tsukita S, Furuse M and Itoh M.
  TITLE     Multifunctional strands in tight junctions
  JOURNAL   Nat Rev Mol Cell Biol 2 (4), 285-293 (2001)
   PUBMED   11283726
  REMARK    Review article
REFERENCE   8  (bases 1 to 1209)
  AUTHORS   Heiskala M, Peterson PA and Yang Y.
  TITLE     The roles of claudin superfamily proteins in paracellular transport
  JOURNAL   Traffic 2 (2), 93-98 (2001)
   PUBMED   11247307
  REMARK    Review article
REFERENCE   9  (bases 1 to 1209)
  AUTHORS   Kniesel U and Wolburg H.
  TITLE     Tight junctions of the blood-brain barrier
  JOURNAL   Cell Mol Neurobiol 20 (1), 57-76 (2000)
   PUBMED   10690502
  REMARK    Review article
REFERENCE   10  (bases 1 to 1209)
  AUTHORS   Berg,M., Geisel,A. and Necheles,H.
  TITLE     The influence of carbenoxolone on steroid-induced ulcer and mucus
            secretion in the rat
  JOURNAL   Am J Dig Dis 20 (2), 134-137 (1975)
   PUBMED   1124737
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HM005642.1, BC020838.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2146982 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367165.3/ ENSP00000356133.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC020838.1 and AL139101.13.
            On Jun 5, 2010 this sequence version replaced NM_001001346.2.
            Summary: This gene encodes a member of the claudin family. Claudins
            are integral membrane proteins and components of tight junction
            strands. Tight junction strands serve as a physical barrier to
            prevent solutes and water from passing freely through the
            paracellular space between epithelial or endothelial cell sheets,
            and also play critical roles in maintaining cell polarity and
            signal transductions. [provided by RefSeq, Jun 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1209
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.3"
     gene            1..1209
                     /gene="CLDN20"
                     /note="claudin 20"
                     /db_xref="GeneID:49861"
                     /db_xref="HGNC:HGNC:2042"
     misc_feature    354..356
                     /gene="CLDN20"
                     /note="upstream in-frame stop codon"
     CDS             381..1040
                     /gene="CLDN20"
                     /note="testis secretory sperm-binding protein Li 229n"
                     /codon_start=1
                     /product="claudin-20 precursor"
                     /protein_id="NP_001001346.1"
                     /db_xref="CCDS:CCDS5249.1"
                     /db_xref="GeneID:49861"
                     /db_xref="HGNC:HGNC:2042"
                     /translation="MASAGLQLLAFILALSGVSGVLTATLLPNWKVNVDVDSNIITAIV
                     QLHGLWMDCTWYSTGMFSCALKHSILSLPIHVQAARATMVLACVLSALGICTSTVGMKC
                     TRLGGDRETKSHASFAGGVCFMSAGISSLISTVWYTKEIIANFLDLTVPESNKHEPGGA
                     IYIGFISAMLLFISGMIFCTSCIKRNPEARLDPPTQQPISNTQLENNSTHNLKDYV"
     sig_peptide     381..440
                     /gene="CLDN20"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    402..464
                     /gene="CLDN20"
                     /note="propagated from UniProtKB/Swiss-Prot (P56880.1);
                     transmembrane region"
     misc_feature    624..686
                     /gene="CLDN20"
                     /note="propagated from UniProtKB/Swiss-Prot (P56880.1);
                     transmembrane region"
     misc_feature    735..797
                     /gene="CLDN20"
                     /note="propagated from UniProtKB/Swiss-Prot (P56880.1);
                     transmembrane region"
     misc_feature    861..923
                     /gene="CLDN20"
                     /note="propagated from UniProtKB/Swiss-Prot (P56880.1);
                     transmembrane region"
     misc_feature    957..1037
                     /gene="CLDN20"
                     /note="propagated from UniProtKB/Swiss-Prot (P56880.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1187..1192
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLDN20"
                     /note="hexamer: AATAAA"
     polyA_site      1209
                     /gene="CLDN20"
                     /note="major polyA site"
ORIGIN
        1 aaagttcgaa gtgggatgat cacgggcaga cctgggtggt tgggaacagg aagcatatgg
       61 catcttgcag gctataggca ccacaaaatg gaacgcagga ggacaggggc ttgggagagc
      121 cacttcactg tcgggtaaaa caacggagca agatgagtgc ctccggatgc ttggtttccc
      181 caccctccag tgtctgcttg ctcttcaagt acctccacca agctaatgac agtccacttt
      241 aggacatcac gggcctcgag gttacaactt tcccaggctt tgttatttgg ttctctactg
      301 cacagaaata gatagaattc tgacagccat cattgttaaa catcaggatt ttctaagagg
      361 acagacttaa cagtaacatc atggcctcag caggactcca gctccttgct ttcatcctgg
      421 ccttatctgg ggtctctgga gtgctcacag ccactctgct gcccaactgg aaggtgaatg
      481 tggatgtgga ctccaacatc ataacagcca ttgtacagct gcacgggctc tggatggact
      541 gtacgtggta cagcactggg atgttcagct gtgccctgaa acactccatt ctgtccctcc
      601 ccatccacgt gcaggctgcg agagccacca tggtcctggc gtgtgttctg tctgctttgg
      661 ggatctgcac ttccacagta ggaatgaaat gtactcgctt aggaggggac agagaaacca
      721 agagccatgc ttcctttgct ggaggagtct gtttcatgtc tgcaggaatc tctagtttaa
      781 tctcgacagt gtggtacaca aaggagatca tagcaaactt tctggatctg acagttccag
      841 aaagcaacaa acatgaacct ggaggagcta tctatatcgg attcatttct gcaatgctgt
      901 tgtttatctc tggcatgatt ttctgcacct cctgtataaa aaggaatcca gaagctagac
      961 tcgacccacc cacacagcag cctatctcta acacacagct cgagaacaat tccacacaca
     1021 atctgaagga ttatgtgtaa ataactgagt aatgcatatg aaatggaact tttgggtgcc
     1081 aaatgggact tttagattaa aaaaaaatca gaattatgct taactttccc tacaaagaaa
     1141 gtagaatgta aaatacttta acaactacaa agtagtttaa aatgccaata aaactatcat
     1201 atacaatta
//
LOCUS       NM_001001410            1210 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens TSR3 ribosome maturation factor (TSR3), mRNA.
ACCESSION   NM_001001410
VERSION     NM_001001410.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1210)
  AUTHORS   Meyer B, Wurm JP, Sharma S, Immer C, Pogoryelov D, Kotter P,
            Lafontaine DL, Wohnert J and Entian KD.
  TITLE     Ribosome biogenesis factor Tsr3 is the aminocarboxypropyl
            transferase responsible for 18S rRNA hypermodification in yeast and
            humans
  JOURNAL   Nucleic Acids Res 44 (9), 4304-4316 (2016)
   PUBMED   27084949
  REMARK    GeneRIF: Structurally, Tsr3 represents a novel class of acp
            transferase enzymes.
REFERENCE   2  (bases 1 to 1210)
  AUTHORS   Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G,
            Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E,
            Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM,
            Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C,
            Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M,
            Clark LM, Cohn JD, Denys M, Detter JC, Dickson M,
            Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos
            D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady
            DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand
            CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H,
            Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y,
            Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ,
            Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S,
            Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer
            J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH, Scott
            D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R, Tesmer
            JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M, Tsai M,
            Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL, Wills PL,
            Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA, Deaven L,
            Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler EE, Gilna
            P, Lucas SM, Myers RM, Rubin EM and Pennacchio LA.
  TITLE     The sequence and analysis of duplication-rich human chromosome 16
  JOURNAL   Nature 432 (7020), 988-994 (2004)
   PUBMED   15616553
REFERENCE   3  (bases 1 to 1210)
  AUTHORS   Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C,
            Kearney L, Buckle VJ, Doggett NA, Flint J and Higgs DR.
  TITLE     Sequence, structure and pathology of the fully annotated terminal 2
            Mb of the short arm of human chromosome 16
  JOURNAL   Hum Mol Genet 10 (4), 339-352 (2001)
   PUBMED   11157797
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC017325.2, BC013943.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000007390.3/ ENSP00000007390.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL031709.12, BC016699.1 and BC017325.2.
            On Nov 22, 2018 this sequence version replaced NM_001001410.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1210
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1210
                     /gene="TSR3"
                     /gene_synonym="C16orf42; HsTsr3"
                     /note="TSR3 ribosome maturation factor"
                     /db_xref="GeneID:115939"
                     /db_xref="HGNC:HGNC:14175"
                     /db_xref="MIM:617058"
     CDS             75..1013
                     /gene="TSR3"
                     /gene_synonym="C16orf42; HsTsr3"
                     /note="probable ribosome biogenesis protein C16orf42;
                     ribosome biogenesis protein TSR3 homolog; TSR3, 20S rRNA
                     accumulation, homolog; TSR3, acp transferase ribosome
                     maturation factor; 20S S rRNA accumulation protein 3
                     homolog"
                     /codon_start=1
                     /product="18S rRNA aminocarboxypropyltransferase"
                     /protein_id="NP_001001410.1"
                     /db_xref="CCDS:CCDS10435.1"
                     /db_xref="GeneID:115939"
                     /db_xref="HGNC:HGNC:14175"
                     /db_xref="MIM:617058"
                     /translation="MGRRRAARGPGAEGGRPRHLPTRSLEAFAEEVGAALQASVEPGAA
                     DGEGGPGPAALPCTLAMWELGHCDPRRCTGRKLARLGLVRCLRLGHRFGGLVLSPVGKQ
                     YASPADRQLVAQSGVAVIDCSWARLDETPFGKMRGSHLRLLPYLVAANPVNYGRPYRLS
                     CVEAFAATFCIVGFPDLAVILLRKFKWGKGFLDLNRQLLDKYAACGSPEEVLQAEQEFL
                     ANAKESPQEEEIDPFDVDSGREFGNPNRPVASTRLPSDTDDSDASEDPGPGAERGGASS
                     SCCEEEQTQGRGAEARAPAEVWKGIKKRQRD"
     misc_feature    75..137
                     /gene="TSR3"
                     /gene_synonym="C16orf42; HsTsr3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJK0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    144..146
                     /gene="TSR3"
                     /gene_synonym="C16orf42; HsTsr3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5HZH2; propagated from
                     UniProtKB/Swiss-Prot (Q9UJK0.1); phosphorylation site"
     misc_feature    744..1010
                     /gene="TSR3"
                     /gene_synonym="C16orf42; HsTsr3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJK0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    849..851
                     /gene="TSR3"
                     /gene_synonym="C16orf42; HsTsr3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9UJK0.1); phosphorylation site"
     misc_feature    855..857
                     /gene="TSR3"
                     /gene_synonym="C16orf42; HsTsr3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9UJK0.1); phosphorylation site"
     misc_feature    864..866
                     /gene="TSR3"
                     /gene_synonym="C16orf42; HsTsr3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9UJK0.1); phosphorylation site"
     misc_feature    918..920
                     /gene="TSR3"
                     /gene_synonym="C16orf42; HsTsr3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9UJK0.1); phosphorylation site"
     regulatory      1190..1195
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSR3"
                     /gene_synonym="C16orf42; HsTsr3"
                     /note="hexamer: AATGAA"
     polyA_site      1210
                     /gene="TSR3"
                     /gene_synonym="C16orf42; HsTsr3"
                     /note="major polyA site"
ORIGIN
        1 agccgcacag cccattggga ggccgagggg cgcggccgtg gggtggggag tccccggcac
       61 cccaggtccg cgccatgggc cgcaggaggg cagcgcgcgg gccgggggcg gaaggcggcc
      121 gccctcggca cctcccgacg cgctccctgg aggccttcgc cgaggaggtc ggcgccgcgc
      181 tgcaggcttc cgtggagcca ggggcggctg acggcgaggg cggcccgggc ccggcggcgc
      241 tgccctgcac gctggccatg tgggagttgg gccactgcga cccccggcgc tgcacgggcc
      301 gcaagctggc ccgcctgggg ctggtgcgct gcctgcgcct gggccacaga ttcggcggtc
      361 tggtgctgag ccccgtgggc aagcagtacg cgtcccccgc agacagacag ctggtggcgc
      421 agtctggggt cgccgtcatc gactgctcct gggccaggct ggacgagaca ccgtttggga
      481 agatgcgagg gagccacttg cgcctgttgc cctacctggt ggccgccaac cccgtgaact
      541 atggccggcc ctacagactt tcctgcgtgg aagcgtttgc tgccaccttc tgcatcgtag
      601 gctttccaga ccttgctgtc attttgctgc ggaagtttaa atggggcaag ggcttcttgg
      661 acctgaaccg ccagctcctg gacaagtacg cggcctgcgg cagcccggag gaggtgctgc
      721 aggcggagca ggagttcttg gccaatgcca aggagagccc ccaggaggag gagatcgatc
      781 ccttcgatgt ggattcaggg agagagtttg gaaaccccaa caggcctgtg gccagcaccc
      841 ggctgccctc ggacactgat gacagtgatg cgtctgagga cccagggcct ggcgccgagc
      901 gcggaggagc cagcagcagc tgctgtgaag aggagcagac gcagggacgg ggggctgagg
      961 ccagggcccc ggctgaggtt tggaaaggaa tcaagaaacg gcagagagac tgagggttgc
     1021 agacacatat atttttgagg ctgggtgacg agaaaatcta gagacatgag ggacataaat
     1081 gggcctggca gcctcggctc tttgcggctg ctggcaggac tgagctgtcc gggttctccc
     1141 cacacttcca gcacagctgt gctctgtgtc ctgcctcggc gctctcgcaa atgaagctgc
     1201 aggccaagaa
//
LOCUS       NM_001001411            2946 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 676 (ZNF676), mRNA.
ACCESSION   NM_001001411
VERSION     NM_001001411.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2946)
  AUTHORS   Jiang T, Wang Y, Zhu M, Wang Y, Huang M, Jin G, Guo X, Sha J, Dai J
            and Hu Z.
  TITLE     Transcriptome-wide association study revealed two novel genes
            associated with nonobstructive azoospermia in a Chinese population
  JOURNAL   Fertil Steril 108 (6), 1056-1062 (2017)
   PUBMED   29202958
  REMARK    GeneRIF: Transcriptome wide association study results identified two
            novel genes as statistically significantly associated with
            nonobstructive azoospermia susceptibility: PILRA and ZNF676.
REFERENCE   2  (bases 1 to 2946)
  AUTHORS   Mangino M, Hwang SJ, Spector TD, Hunt SC, Kimura M, Fitzpatrick AL,
            Christiansen L, Petersen I, Elbers CC, Harris T, Chen W, Srinivasan
            SR, Kark JD, Benetos A, El Shamieh S, Visvikis-Siest S, Christensen
            K, Berenson GS, Valdes AM, Vinuela A, Garcia M, Arnett DK, Broeckel
            U, Province MA, Pankow JS, Kammerer C, Liu Y, Nalls M, Tishkoff S,
            Thomas F, Ziv E, Psaty BM, Bis JC, Rotter JI, Taylor KD, Smith E,
            Schork NJ, Levy D and Aviv A.
  TITLE     Genome-wide meta-analysis points to CTC1 and ZNF676 as genes
            regulating telomere homeostasis in humans
  JOURNAL   Hum Mol Genet 21 (24), 5385-5394 (2012)
   PUBMED   23001564
  REMARK    GeneRIF: Genome-wide meta-analysis points to CTC1 and ZNF676 as
            genes regulating telomere homeostasis in humans.
REFERENCE   3  (bases 1 to 2946)
  AUTHORS   Levy D, Neuhausen SL, Hunt SC, Kimura M, Hwang SJ, Chen W, Bis JC,
            Fitzpatrick AL, Smith E, Johnson AD, Gardner JP, Srinivasan SR,
            Schork N, Rotter JI, Herbig U, Psaty BM, Sastrasinh M, Murray SS,
            Vasan RS, Province MA, Glazer NL, Lu X, Cao X, Kronmal R, Mangino M,
            Soranzo N, Spector TD, Berenson GS and Aviv A.
  TITLE     Genome-wide association identifies OBFC1 as a locus involved in
            human leukocyte telomere biology
  JOURNAL   Proc Natl Acad Sci U S A 107 (20), 9293-9298 (2010)
   PUBMED   20421499
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX281304.1, AI092258.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000397121.3/ ENSP00000380310.1
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX281304.1, AC073539.3 and AK097798.1.
            On May 17, 2019 this sequence version replaced NM_001001411.2.
FEATURES             Location/Qualifiers
     source          1..2946
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p12"
     gene            1..2946
                     /gene="ZNF676"
                     /note="zinc finger protein 676"
                     /db_xref="GeneID:163223"
                     /db_xref="HGNC:HGNC:20429"
     misc_feature    196..198
                     /gene="ZNF676"
                     /note="upstream in-frame stop codon"
     CDS             319..2085
                     /gene="ZNF676"
                     /codon_start=1
                     /product="zinc finger protein 676"
                     /protein_id="NP_001001411.2"
                     /db_xref="CCDS:CCDS42539.1"
                     /db_xref="GeneID:163223"
                     /db_xref="HGNC:HGNC:20429"
                     /translation="MLENYRNLVFLGIAAFKPDLIIFLEQGKEPWNMKRHEMVEEPPVI
                     CSHFSQEFWPEQGIEDSFQKMILRRYDKCGHENLHLKISCTNVDECNVHKEGYNKLNQS
                     LTTTQSKVFQCGKYANVFHKCSNSNRHKIRHTGEKGLKCKEYVRSFCMLSHLSQHERIY
                     TRENSYKCEENGKAFNWSSTLTYYKSIHTGEKPYKCEECGKAFSKFSILTKHKVIHTGE
                     KPYKCEECGKAFNRSSILTKHKIIHTGEKPYKCEECGKGFSSVSTLNTHKAIHAEEKPY
                     KCEECGKASNSSSKLMEHKRIHTGEKPYKCEECGKAFSWSSSLTEHKRIHAGEKPYKCE
                     ECGKAFNRSSILTKHKIIHTGEKPYKCEGCGKAFSKVSTLNTHKAIHAEEKPYKCEECG
                     KASNSSSKLMEHKRIHTGEKPYKCEECGKAFSWSSSLTEHKRIHAGEKPYKCEECGKAF
                     TWSSSFTKHKRIHAAEKPYKCEECGKGFSTFSILTKHKIIHTGEKRYKCEECGKAFSWS
                     SILTEHKIIHTGEKPYKCEECGKAFSRSSSLTRHKRIHTGEKPYKCEECGKAFKSSSTV
                     SYHKKIHTGENP"
     regulatory      2922..2927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF676"
                     /note="hexamer: AATAAA"
     polyA_site      2946
                     /gene="ZNF676"
                     /note="major polyA site"
ORIGIN
        1 attacatata cacagatgtt atggatctta taccactttc ttttctcaga gttagagaat
       61 acattagtga acatttctgt gttgaaaact attttattga ataatttcag tcattcatat
      121 aagtcagaac cagctctctc tactctctcc attttacctt gagtcacatt aaaagttctg
      181 cccatgacca attggtaaat atatgtgttt gtgtgtgttt tccagggagc attgacattt
      241 agggatgtgg ccatagaatt ctctctggag gagtggcaat gcctggattc tacacagcag
      301 aatttatata ggaatgtgat gttagagaac tacagaaacc tggtcttcct gggtattgct
      361 gcctttaagc cagacctgat catttttctg gagcaaggaa aagagccctg gaatatgaag
      421 agacatgaga tggtggaaga acccccagtt atatgttctc atttttccca agagttttgg
      481 ccagagcaag gcatagaaga ttctttccaa aaaatgatat tgagaagata tgacaaatgt
      541 ggacatgaga atttacactt aaaaattagt tgtaccaatg tggatgagtg taacgtgcac
      601 aaagaaggtt ataataaact taaccagagt ttaacaacta cacagagcaa agtatttcaa
      661 tgtggcaaat atgcaaacgt ctttcataaa tgttcaaatt caaacagaca taagataagg
      721 catactggag agaaaggttt gaaatgtaaa gaatatgtca gatcattttg catgctttca
      781 cacctatctc aacatgaaag aatttatact agagagaatt cctacaaatg tgaagaaaat
      841 ggcaaagctt ttaactggtc ctcaaccctt acttattata agagtattca tactggagag
      901 aaaccctaca aatgtgaaga atgtggcaaa gcctttagta agttctcaat ccttactaaa
      961 cataaggtaa ttcatactgg agagaaaccc tacaaatgtg aagaatgtgg caaagctttt
     1021 aatcgatcct caatccttac taaacataag ataattcata ctggagagaa accctacaaa
     1081 tgtgaagaat gtggcaaagg atttagtagc gtctcaaccc ttaatacaca taaggcaatt
     1141 catgctgaag agaagcccta caaatgtgaa gaatgtggca aagcttccaa ctcgtcctca
     1201 aagctcatgg aacataagag aattcatact ggagagaaac cctacaagtg tgaagaatgt
     1261 ggcaaagcct tcagctggtc ctcaagcctt actgaacaca agagaattca tgctggagag
     1321 aaaccctaca aatgtgaaga atgcgggaaa gcttttaatc gatcctcaat ccttactaaa
     1381 cataagatta ttcatactgg agagaaaccc tacaaatgtg aaggatgtgg caaagccttt
     1441 agtaaggtct caacccttaa tacacataag gcaattcatg ctgaagagaa gccctacaaa
     1501 tgtgaagaat gtggcaaagc ttccaactca tcctcaaagc tcatggaaca taagagaatt
     1561 catactggag agaaacccta caagtgtgaa gaatgtggca aagccttcag ctggtcctca
     1621 agccttactg aacacaagag aattcatgct ggagagaaac cctacaaatg tgaagaatgt
     1681 ggcaaagcct tcacctggtc ctcaagcttt actaaacaca agagaattca tgctgcagag
     1741 aaaccttaca aatgtgaaga atgtggcaaa ggctttagta cgttctcaat ccttactaaa
     1801 cataagataa ttcatactgg agagaaacgc tacaaatgtg aagaatgtgg caaagccttc
     1861 agctggtcct cgatccttac tgaacataag ataattcata ctggagagaa accctacaaa
     1921 tgtgaagaat gtggcaaagc cttcagcaga tcctcaagcc ttactagaca caagagaatt
     1981 catactggag agaaacccta caaatgtgaa gaatgtggca aagcttttaa gtcatcctca
     2041 actgttagtt atcataagaa aattcatact ggagagaatc cctaaaaatg tgaagaatgt
     2101 ggtaaatcct tcagctgatt ctcagtctag taaacataag aaaattcata ctggagagaa
     2161 aatctacaaa ggtgaagaat gtggcaaagc ttttaaacag tcctcaatct ttattacaca
     2221 taagaaaatt catgctggag agaaacacta caaacgtgaa gaatgtgaca aaggcttcaa
     2281 ccggtcctca aaccttgtgg aacataagag aattcatact ggagagaaac cctacaaatg
     2341 cgaagaatgt gataaagact tcaactgttc ctcacacctt actactcata aaagaattca
     2401 tactggagga aaagccctac aaatgtgaaa aacgtggcaa agcttttcat tagttctcaa
     2461 cccttactga acataaggga atttatacag gagggaaacc ctacaaatgt gaagaatgtg
     2521 gcaagccttt tagctgttcc tcaatcctta ctaaacattc atgtaattca tactggaggg
     2581 aattcctata attgtgtgga atgtggcaaa gcctttaacc agtccttaag gcttactaca
     2641 tataagacaa ctcatactgg agagaaacca tgcatgtgtg aagaatgtgg gaaagcctct
     2701 aacagatcct caattcttaa gaaacatagg ctaattcata catgagagac tctacaaacc
     2761 tgaaagatgt gacaatgctt ttggcaacac ctcagacttt tctgaatata aaagaaatca
     2821 tatgaatgag aaatcctaga aatgtgaaga atgtgacaaa gcctttaaat ggctgtcaca
     2881 cttgattgta ggtaagataa tatactggag aaaactacta gaataaacaa tgtggcacac
     2941 atttaa
//
LOCUS       NM_001001412            3212 bp    mRNA    linear   PRI 09-JUL-2023
DEFINITION  Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.
ACCESSION   NM_001001412
VERSION     NM_001001412.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3212)
  AUTHORS   Jeon YK, Choi SW, Kwon JW, Woo J, Choi SW, Kim SJ and Kim SJ.
  TITLE     Thermosensitivity of the voltage-dependent activation of calcium
            homeostasis modulator 1 (calhm1) ion channel
  JOURNAL   Biochem Biophys Res Commun 534, 590-596 (2021)
   PUBMED   33199024
  REMARK    GeneRIF: Thermosensitivity of the voltage-dependent activation of
            calcium homeostasis modulator 1 (calhm1) ion channel.
REFERENCE   2  (bases 1 to 3212)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 3212)
  AUTHORS   Cisneros-Mejorado A, Gottlieb M, Ruiz A, Chara JC, Perez-Samartin A,
            Marambaud P and Matute C.
  TITLE     Blockade and knock-out of CALHM1 channels attenuate ischemic brain
            damage
  JOURNAL   J Cereb Blood Flow Metab 38 (6), 1060-1069 (2018)
   PUBMED   28597712
REFERENCE   4  (bases 1 to 3212)
  AUTHORS   Mun MJ, Kim JH, Choi JY and Jang WC.
  TITLE     Calcium homeostasis modulator 1 gene P86L polymorphism and the risk
            for alzheimer's disease: A meta-analysis
  JOURNAL   Neurosci Lett 619, 8-14 (2016)
   PUBMED   26944452
  REMARK    GeneRIF: CALHM1 polymorphism may be potential biomarker in patients
            with Alzheimer disease. [meta-analysis]
REFERENCE   5  (bases 1 to 3212)
  AUTHORS   Sleegers K, Brouwers N, Bettens K, Engelborghs S, van Miegroet H, De
            Deyn PP and Van Broeckhoven C.
  TITLE     No association between CALHM1 and risk for Alzheimer dementia in a
            Belgian population
  JOURNAL   Hum Mutat 30 (4), E570-E574 (2009)
   PUBMED   19191332
  REMARK    GeneRIF: Study suggests the polymorphism does not contribute
            significantly to Alzheimer dementia risk in the Belgian population.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3212)
  AUTHORS   Minster RL, Demirci FY, DeKosky ST and Kamboh MI.
  TITLE     No association between CALHM1 variation and risk of Alzheimer
            disease
  JOURNAL   Hum Mutat 30 (4), E566-E569 (2009)
   PUBMED   19191331
  REMARK    GeneRIF: No association with risk of late-onset Alzheimer disease
            (p=0.368 for genotypes; p=0.796 for alleles) was observed in the
            study, however, a potential modest association of minor allele
            homozygosity (TT) with an earlier age-at-onset was seen. GeneRIF:
            Observational study of gene-disease association. (HuGE Navigator)
REFERENCE   7  (bases 1 to 3212)
  AUTHORS   Bertram,L., Schjeide,B.M., Hooli,B., Mullin,K., Hiltunen,M.,
            Soininen,H., Ingelsson,M., Lannfelt,L., Blacker,D. and Tanzi,R.E.
  TITLE     No association between CALHM1 and Alzheimer's disease risk
  JOURNAL   Cell 135 (6), 993-4 (2008)
   PUBMED   19070563
  REMARK    GeneRIF: Study assessed the potential association between
            Alzheimer's Disease risk and the Pro86Leu variant in the CALHM1
            gene; no association was observed, either in the individual samples
            or in the combined analyses of more than 8100 subjects
REFERENCE   8  (bases 1 to 3212)
  AUTHORS   Lambert,J.C., Campagne,F. and Marambaud,P.
  TITLE     [CALHM1, a novel gene to blame in Alzheimer disease]
  JOURNAL   Med Sci (Paris) 24 (11), 923-924 (2008)
   PUBMED   19038093
  REMARK    GeneRIF: Protein may be a genetic determinant of Alzheimer disease,
            since a polymorphism reduces calcium permeability.
REFERENCE   9  (bases 1 to 3212)
  AUTHORS   Green KN and LaFerla FM.
  TITLE     Linking calcium to Abeta and Alzheimer's disease
  JOURNAL   Neuron 59 (2), 190-194 (2008)
   PUBMED   18667147
  REMARK    GeneRIF: [Review] Expression of CALHM1 is found in all brain regions
            and cells of neuronal lineage; it localizes predominantly to the
            endoplasmic reticulum but also exists at the plasma membrane, where
            it forms a novel calcium influx route to the cytosol. Review article
REFERENCE   10  (bases 1 to 3212)
  AUTHORS   Dreses-Werringloer U, Lambert JC, Vingtdeux V, Zhao H, Vais H,
            Siebert A, Jain A, Koppel J, Rovelet-Lecrux A, Hannequin D, Pasquier
            F, Galimberti D, Scarpini E, Mann D, Lendon C, Campion D, Amouyel P,
            Davies P, Foskett JK, Campagne F and Marambaud P.
  TITLE     A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels,
            and Alzheimer's disease risk
  JOURNAL   Cell 133 (7), 1149-1161 (2008)
   PUBMED   18585350
  REMARK    GeneRIF: Study determined that the CALHM1 P86L polymorphism is
            associated with Alzheimer's disease, further found that the P86L
            polymorphism increases amyloid-beta levels by interfering with
            CALHM1-mediated Ca(2+) permeability. GeneRIF: Observational study of
            gene-disease association. (HuGE Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC036208.1, SRR14038196.1116224.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142348,
            SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000329905.6/ ENSP00000329926.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139339.22.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 27, 2019 this sequence version replaced NM_001001412.3.
            Summary: This gene encodes a calcium channel that plays a role in
            processing of amyloid-beta precursor protein. A polymorphism at
            this locus has been reported to be associated with susceptibility
            to late-onset Alzheimer's disease in some populations, but the
            pathogenicity of this polymorphism is unclear.[provided by RefSeq,
            Mar 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3212
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.33"
     gene            1..3212
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /note="calcium homeostasis modulator 1"
                     /db_xref="GeneID:255022"
                     /db_xref="HGNC:HGNC:23494"
                     /db_xref="MIM:612234"
     misc_feature    114..116
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /note="upstream in-frame stop codon"
     CDS             150..1190
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /note="family with sequence similarity 26, member C"
                     /codon_start=1
                     /product="calcium homeostasis modulator protein 1"
                     /protein_id="NP_001001412.3"
                     /db_xref="CCDS:CCDS7550.1"
                     /db_xref="GeneID:255022"
                     /db_xref="HGNC:HGNC:23494"
                     /db_xref="MIM:612234"
                     /translation="MMDKFRMIFQFLQSNQESFMNGICGIMALASAQMYSAFDFNCPCL
                     PGYNAAYSAGILLAPPLVLFLLGLVMNNNVSMLAEEWKRPLGRRAKDPAVLRYMFCSMA
                     QRALIAPVVWVAVTLLDGKCFLCAFCTAVPVSALGNGSLAPGLPAPELARLLARVPCPE
                     IYDGDWLLAREVAVRYLRCISQALGWSFVLLTTLLAFVVRSVRPCFTQAAFLKSKYWSH
                     YIDIERKLFDETCTEHAKAFAKVCIQQFFEAMNHDLELGHTHGTLATAPASAAAPTTPD
                     GAEEEREKLRGITDQGTMNRLLTSWHKCKPPLRLGQEEPPLMGNGWAGGGPRPPRKEVA
                     TYFSKV"
     misc_feature    201..263
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IU99.2);
                     transmembrane region"
     misc_feature    300..362
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IU99.2);
                     transmembrane region"
     misc_feature    369..371
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /note="Not glycosylated; propagated from
                     UniProtKB/Swiss-Prot (Q8IU99.2); other site"
     misc_feature    474..536
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IU99.2);
                     transmembrane region"
     misc_feature    567..569
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:18585350; propagated from
                     UniProtKB/Swiss-Prot (Q8IU99.2); glycosylation site"
     misc_feature    693..755
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IU99.2);
                     transmembrane region"
     misc_feature    1086..1187
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IU99.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3193..3198
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /note="hexamer: AATAAA"
     polyA_site      3212
                     /gene="CALHM1"
                     /gene_synonym="FAM26C"
                     /note="major polyA site"
ORIGIN
        1 agtgacctca gcctctgctc tgagctctgt tggtcccagc caggagagcc cgagtcatga
       61 ggtgggcacc cagtgggcag ggtgggcagc aggggccctc ttggaggcag cagtgagttg
      121 ggaagaggag gccgggcccc acagcgggca tgatggacaa gttccggatg atcttccagt
      181 tcctgcagtc caaccaggag tccttcatga atggcatctg tggcatcatg gccctggcca
      241 gtgcccagat gtactcggcc ttcgacttca actgcccctg cctgccgggc tacaatgcag
      301 cctacagcgc gggcatcctg ctggcgccac ccctggtgct ctttctgctt ggcctggtca
      361 tgaacaacaa cgtgtccatg ctggccgaag agtggaagcg gccgctgggc cgccgggcca
      421 aggaccccgc tgtgttgcgc tacatgttct gctccatggc ccagcgcgcc ctcatcgcgc
      481 ctgtcgtctg ggtggccgtc acgctactcg acggcaaatg cttcctctgt gccttctgca
      541 ctgccgtgcc cgtgagcgca ctgggcaacg gcagcctggc acccggcctt cctgcccccg
      601 agctcgcccg cctgctggcc cgggtgccct gccctgagat ctacgatggc gactggctgt
      661 tggcccgaga ggtggccgtg cgttacctcc gctgcatctc ccaggcgctg ggctggtcct
      721 tcgtgctgct gaccactctg ctggcattcg tggtgcgctc tgtgcggccc tgcttcacgc
      781 aggccgcctt cctcaagagc aagtactggt cccactatat cgacatcgag cgcaagctct
      841 tcgacgagac gtgcacggag cacgccaaag cctttgccaa ggtctgcatc cagcagttct
      901 tcgaggccat gaaccatgac ctggagctgg gtcacaccca cgggacactg gccacggccc
      961 ctgcttccgc agctgccccc acgacccccg atggtgcgga ggaggaaagg gagaagctgc
     1021 gtggcatcac ggatcaaggc accatgaaca ggctgctcac gagctggcac aaatgcaaac
     1081 cgcctctgcg gctgggccag gaggagccac cgctgatggg caacggctgg gctgggggtg
     1141 ggccccggcc tccgcgtaag gaggtggcca cctacttcag caaagtgtga ggtgtggcca
     1201 gctgaagagg caggaacggg gatctgagcc cacagcccct ccaaccccca aaccaggtgg
     1261 aaaaaggaag ggtttcagtg ctgggcagta ctcccctagg cagatccaca ctccctagca
     1321 ctcgcctgcc cattggaggc aggaaatttg gagctggaag gggatctgat gccttcaggt
     1381 gtgacactgc cctggatggc cctagggcag tgggcccatg agcagtatta gtctaaaggg
     1441 gtcggaactg tcatggcagg tacagggacc aatggctccc ctctgcccag cccttcccag
     1501 gctgatgttc actgtctcct cccaggttca acagacatcc ctgccccagg gtccaccctc
     1561 gtctgtggct gttcagtacc tctcttcctt tatgctccgg gctcggggag tgggaatcat
     1621 caggcgtctc atgaagtggg agccctctga tttgggcaag cgtgtcgtag gtgagactgg
     1681 gtgtgccggg gcaggtccat aaggacatga cacacagcct acctggtgtg acacacctgg
     1741 ggtgacaggc gatgagacaa gatgtcagaa gctaggttca catggaagag gtcagagtgt
     1801 gtggtcacca tgggggtcat gtgacaattg tccaggtgga ctgcatgttt atttagcaca
     1861 aaccaagcac aaaagtcctc ctgtagaggg gtctttgaaa aaccacctta atacccccgt
     1921 cacatccagg tctccagggg aaatcagacc atccccaagg cttgagaagt tagacacaga
     1981 agctgaagtc tctccatttt tctcaaagac cccacctctt ggggatggag ttctaagagg
     2041 ctaagaggag ctccaaggct ctagcccagg tgggatgagg gtggaggaga gcagtgtaaa
     2101 gagaaagcag ctcagattcc agagtgagac agaactgggt caaatggtgt ctctaccact
     2161 cacaaaccct gtccctgggc cagctgcatc actgcctgtg ccttcgtttc ttcatctata
     2221 caatgaggat gaggcccccc cggcccgcca tcatggggtt gctgtgtgta aaagcacatg
     2281 gcacatagta ggcacccagc acagggtggc taatgtattt gttgatttct gaacctaagg
     2341 acttccttcc tcctcccctg ggcagggatg agacagcaac acaaacactc gagcttccat
     2401 cttgttgagg aggaaacaga ggtacagata ggtttctcag caccgccctc agctctgaga
     2461 cataagtccc aagcatctaa ggattcattt tgatcttggc atgattccat ccttttttat
     2521 ccatccttcc ctctattccc acttctgggg tccagtttcc ctcctcttaa ttatttggga
     2581 ggagttgctc agatctttgt gggccaaggt gggctgggag ggctcttcca ggaggtagga
     2641 gttggtatgg gccctgaagt cagggaggat taggatgagc aaaaaacaag gtgtatgttg
     2701 gtgggtggca gcacttccag tgggaagaga aggcccggag gtatcaggag gtacaaatgt
     2761 gatgaagagc aaagctttgg gtcaggcaca cctgagttca aataccagca ctgcaggact
     2821 tgtggccagt cacccagcca ctctaagcct cagtgtgtct gtctataaaa tggatattag
     2881 aagacctgct tggccaggcg gagtggctca tgcctgtaat cccagcactt gggaggccaa
     2941 ggagggagga tcacttgagc ctgggagttg gagaccagcc tgggcaacat agcaagactc
     3001 tgtctctgta aagtaataat aataataaga agaagaagaa gaataaagag aagatttata
     3061 atttttttaa aatgaaaaaa ttatttttta aaaaagacct gattttcagg attgtggtaa
     3121 ggatagagga agataacttt tagggaagga tctgggactg tgtttagcac atgctgggat
     3181 ctgaaacaaa caaataaaca agcagaactt gg
//
LOCUS       NM_001001413            3822 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens golgin A6 family like 1 (GOLGA6L1), mRNA.
ACCESSION   NM_001001413
VERSION     NM_001001413.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3822)
  AUTHORS   Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R,
            Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine
            M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J,
            Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K,
            Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T,
            Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi
            T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato
            K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H,
            Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S,
            Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta
            T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO,
            Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N,
            Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y,
            Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H,
            Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A,
            Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T,
            Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai
            A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H,
            Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M,
            Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y,
            Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K,
            Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M,
            Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano
            J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T,
            Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T,
            Nakamura Y, Ohara O, Isogai T and Sugano S.
  TITLE     Complete sequencing and characterization of 21,243 full-length human
            cDNAs
  JOURNAL   Nat Genet 36 (1), 40-45 (2004)
   PUBMED   14702039
REFERENCE   2  (bases 1 to 3822)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz
            TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha
            SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA,
            McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley
            KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM,
            Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan
            A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko
            Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC,
            Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS,
            Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones
            SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2161674 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000614055.2/ ENSP00000478478.1
            RefSeq Select criteria    :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC116165.8.
            On Feb 4, 2009 this sequence version replaced NM_001001413.2.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3822
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q11.2"
     gene            1..3822
                     /gene="GOLGA6L1"
                     /note="golgin A6 family like 1"
                     /db_xref="GeneID:283767"
                     /db_xref="HGNC:HGNC:37444"
     misc_feature    5..7
                     /gene="GOLGA6L1"
                     /note="upstream in-frame stop codon"
     CDS             92..2098
                     /gene="GOLGA6L1"
                     /note="golgi autoantigen, golgin subfamily a, 6-like 1"
                     /codon_start=1
                     /product="golgin subfamily A member 6-like protein 1"
                     /protein_id="NP_001001413.3"
                     /db_xref="CCDS:CCDS73699.1"
                     /db_xref="GeneID:283767"
                     /db_xref="HGNC:HGNC:37444"
                     /translation="MLMWPQPHLPTHPHLPTHPHLPTHPHLPTHPHLPTHPHLPTHPHL
                     PTHPMMSKETRQSKLAEAKEQLTDHHPQTNPSVGTAASDTKKKKINNGTNPETTTSGGC
                     HSPEDEQKASHQHQEALRRELEAQVHTIRILTCQKTELQMALYYSQHAVKQLEGEARDL
                     ISRLHDSWKFAGELEQALSAVATQKKKADRYIEELTKERDALSLELYRNTITDEELKEK
                     NAKLQEKLQLVESEKSEIQLNVKELKRKLERAKLLLPQQQLQAEADHLGKELQSVSAKL
                     QAQVEENELWNRLNQQQEEKMWRQEEKIQEWEEKIQEQEEKIREQEEKIREQEEKMRRQ
                     EEMMWEKEEKMRRQEEMMWEKEEKMRRLEEMMWEKEEKIRELEEKMHEQEKIREQEEKR
                     QEEEKIREQEKRQEQEAKMWRQEEKIREQEEKIREQEKKMWRQEEKIHEQEKIREEEKR
                     QEQEEMWRQEEKIREQEEIWRQKEKMHEQEKIRKQEEKVWRQEEKMHDQEEKIREQEEK
                     MWRQEEKIREQEEKIREQEEKIREQEEMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQ
                     EEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEK
                     MRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI"
     misc_feature    92..451
                     /gene="GOLGA6L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7Z2.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1058..1159
                     /gene="GOLGA6L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7Z2.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1241..1489
                     /gene="GOLGA6L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7Z2.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1532..1864
                     /gene="GOLGA6L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7Z2.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1898..2008
                     /gene="GOLGA6L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7Z2.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 attctagtgc agccctggtt acgcctcctc tggctcagtc acacagcgac gtagaggtga
       61 ctggaggtat atacttgtcc tcacctggat catgctgatg tggccccaac cccacctccc
      121 tacccatccc cacctcccta cccatcccca cctccctacc catccccacc tccctaccca
      181 tccccacctc cctacccatc cccacctccc tacccatccc cacctcccta cccatcctat
      241 gatgtccaaa gaaaccagac agagcaaatt ggccgaggcc aaggaacagt tgacagacca
      301 tcatccccag accaacccta gtgttggtac agcagcaagc gacaccaaaa agaagaaaat
      361 aaataatggc actaaccctg agacaaccac ttctggtggt tgccactcgc ctgaggatga
      421 acagaaggca agccaccaac atcaggaagc cctaaggagg gagctagagg cccaggttca
      481 taccatacga atccttacat gtcagaaaac tgagcttcag atggcactct actacagcca
      541 gcatgctgtc aagcagttgg aaggagaggc cagggatctg atcagccgcc tgcatgattc
      601 atggaagttt gcaggagagt tagagcaggc tctctctgct gtcgctacac agaagaagaa
      661 ggcggatagg tacattgagg agttaacaaa ggagagggac gccctgagtc tggaactgta
      721 caggaacacc ataactgatg aggagctgaa ggagaaaaat gccaaactac aagaaaaact
      781 tcaacttgta gaatctgaaa agtctgagat ccagctcaac gtaaaggagc taaaaaggaa
      841 actggagagg gccaagctcc tgctgccaca gcagcagctg caggcggagg ctgaccacct
      901 gggtaaggag ctgcagagtg tgtcagcaaa gctccaagcc caggtggaag agaacgagtt
      961 gtggaaccgc ctgaaccagc aacaggagga gaagatgtgg aggcaggagg agaagataca
     1021 ggagtgggag gagaagatac aggagcagga ggagaagata cgggagcagg aggagaagat
     1081 acgggagcag gaggagaaga tgcggaggca ggaggagatg atgtgggaga aggaggagaa
     1141 gatgcggagg caggaggaga tgatgtggga gaaggaggag aagatgcgga ggctggagga
     1201 gatgatgtgg gagaaggagg agaagatacg ggagctggaa gagaagatgc acgagcagga
     1261 gaagatacgg gagcaggaag agaagaggca ggaggaggag aagatacgcg agcaggagaa
     1321 gaggcaggag caggaggcga agatgtggag gcaggaggag aagatacggg agcaggaaga
     1381 gaagatacgg gagcaggaga aaaagatgtg gaggcaggag gagaagattc acgagcagga
     1441 gaagatacgg gaggaggaga agaggcagga gcaggaggag atgtggaggc aggaggagaa
     1501 gataagggag caggaggaga tatggaggca aaaggagaag atgcacgagc aggagaagat
     1561 acggaagcag gaggagaagg tgtggaggca ggaggagaag atgcacgacc aggaggagaa
     1621 gatacgggag caggaggaga agatgtggag gcaggaggag aagataaggg agcaggagga
     1681 gaagatacgg gagcaggagg agaagatacg agagcaggag gagatgatgc aggaacagga
     1741 agagaagatg ggggagcagg aagagaagat gcaagaacag gagaagatgc ggaggcagga
     1801 ggagaagata agggagcagg aggagaagat acgggagcag aaggagaaga tacgagagca
     1861 ggaggagaag atatgggagc aggaggagaa gatacgagag caggaggaga tgatgcagga
     1921 acaggaagag aagatgtggg agcaggagga gaagatgtgt gagcaggaag agaagatgca
     1981 agaacaggag gagaagatgc ggaggcagga ggagaagatg tgggagcagg aagtgaggct
     2041 gcggcagcag gaggagaaga tgcaggaaca ccaggagcac ctggaagctg ccatctaatg
     2101 agcacatgac aagaaggcaa agacaataaa catgtaaaag ccggcagcaa ggcctggaga
     2161 agagtaagcc gccatgtgac tgtttagaat atagtctgag cacaaacctg aaaaaaaaat
     2221 tttatttatt ttaaattgtg gcaaaatact ggccaggcat ggtagctcac gcctgtaatc
     2281 ctagcaattt gggaggccga ggtaaatgga tgacctgagg tcaagagttc aagaccagcc
     2341 tggccaatac aaaaattagc cgggcatggt ggcgcatgcc tgtaatccca gctacttggg
     2401 aggctgaggc aggagaatcg cttgaacctg ggaggcagag gttgcagtga gctgagatcg
     2461 tgccactgca ctcaagcctg ggtgacagag cgaaactccg tctcaaaaaa aaaagtttct
     2521 tccttacatg tatgtttcta ttagttttct tcttggtctt tctcatttag tcttgtgttg
     2581 tcttttgaca ttcatagtaa acttttatct gcctccagag agtattgact ttgagtttat
     2641 ggcacacaat tggagtaagg gcagatcgcc ttcatctact ttgggactaa gctggttcaa
     2701 agcaggtttt aggttttctg atggctggtc tatgttttat tcatttggac tcccaggggt
     2761 ggcccttcca gggtccccac caaggtccca tctccttcct gggacccaaa ttctcattag
     2821 gtcatttcag ccctgtgaga gtgccaaaca ttcagctagg ctctccagcc tcttaactac
     2881 cacttcatac tcagtttctt agcctcttag ccctctactg ttgaccaatc accaaatgtg
     2941 ggaaagcact acagactgtc aggatcacct cctaggcctg gtcactcaag tcctgactga
     3001 ggtctccaat taccttccaa caattgtttt tgattggggg cggggcacat ttttatccag
     3061 tttttctaac tgctcttgtg gggaggcgaa tctgtaacaa gctcctctgc ctttactgaa
     3121 agttgaaaac cttcatctgt cctttttttg ttgttgttga gatggagtct tgcgctgttg
     3181 cccaggctct agtgcaatgg cacgatctct gctcactgta acctctgcct cctgggttca
     3241 agcaattctc ctgcctcagc ttcccgcgta gcgtgtgcca ccatgcctgg ctaatttttt
     3301 tttatacctt taatagaggc aggatgtcac catgttttcc aggctggtct cgagctcctg
     3361 actcaggtga tctacctgcc tcagcctccc aaagtgctgg gattacaagt atgagccact
     3421 gcatccggcc catctgtctt ttaaaacatg tttttaattg gaggtataat ttctattagt
     3481 gaaatgcaca ggtctggttt acattttgat gagttttaac tcatttaaca ttactatgga
     3541 acccacctcc tttgaagata cagagtattt ctatcatcca gaaagttctc ctgtgctttc
     3601 atgctgtccc gcactccccc agcagctgat gaacatgctg aggacattgg tactggattc
     3661 tggccgcccc aaaagagccg ctttgaccag gcttacccag cactaaatcc ctgcctgctc
     3721 tctcaaaatt tccatcttta aactggttgt acctataacc ctccctcatc aagtcaatag
     3781 ataaacaaac cctgaaaaat aaacaactct tcctggccca gc
//
LOCUS       NM_001001414            1975 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens NCCRP1, F-box associated domain containing (NCCRP1),
            mRNA.
ACCESSION   NM_001001414
VERSION     NM_001001414.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1975)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1975)
  AUTHORS   Miwa T, Kanda M, Tanaka H, Tanaka C, Kobayashi D, Umeda S, Iwata N,
            Hayashi M, Yamada S, Fujii T, Fujiwara M and Kodera Y.
  TITLE     FBXO50 Enhances the Malignant Behavior of Gastric Cancer Cells
  JOURNAL   Ann Surg Oncol 24 (12), 3771-3779 (2017)
   PUBMED   28560594
  REMARK    GeneRIF: High FBXO50 expression is associated with Gastric Cancer.
REFERENCE   3  (bases 1 to 1975)
  AUTHORS   Kallio H, Tolvanen M, Janis J, Pan PW, Laurila E, Kallioniemi A,
            Kilpinen S, Tuominen VJ, Isola J, Valjakka J, Pastorekova S,
            Pastorek J and Parkkila S.
  TITLE     Characterization of non-specific cytotoxic cell receptor protein 1:
            a new member of the lectin-type subfamily of F-box proteins
  JOURNAL   PLoS One 6 (11), e27152 (2011)
   PUBMED   22087255
  REMARK    GeneRIF: to characterize human NCCRP1 and to elucidate its
            relationship to carbonic anhydrase IX
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC067874.1, BC092493.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000339852.5/ ENSP00000342137.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK123941.1 and AC011443.6.
            On Nov 22, 2018 this sequence version replaced NM_001001414.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1975
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1975
                     /gene="NCCRP1"
                     /gene_synonym="FBXO50; NCCRP-1"
                     /note="NCCRP1, F-box associated domain containing"
                     /db_xref="GeneID:342897"
                     /db_xref="HGNC:HGNC:33739"
                     /db_xref="MIM:615901"
     CDS             20..847
                     /gene="NCCRP1"
                     /gene_synonym="FBXO50; NCCRP-1"
                     /note="nonspecific cytotoxic cell receptor protein 1
                     homolog; NCC receptor protein 1 homolog; non-specific
                     cytotoxic cell receptor protein 1 homolog"
                     /codon_start=1
                     /product="F-box only protein 50"
                     /protein_id="NP_001001414.1"
                     /db_xref="CCDS:CCDS12529.1"
                     /db_xref="GeneID:342897"
                     /db_xref="HGNC:HGNC:33739"
                     /db_xref="MIM:615901"
                     /translation="MEEVREGHALGGGMEADGPASLQELPPSPRSPSPPPSPPPLPSPP
                     SLPSPAAPEAPELPEPAQPSEAHARQLLLEEWGPLSGGLELPQRLTWKLLLLRRPLYRN
                     LLRSPNPEGINIYEPAPPTGPTQRPLETLGNFRGWYIRTEKLQQNQSWTVKQQCVDLLA
                     EGLWEELLDDEQPAITVMDWFEDSRLDACVYELHVWLLAADRRTVIAQHHVAPRTSGRG
                     PPGRWVQVSHVFRHYGPGVRFIHFLHKAKNRMEPGGLRRTRVTDSSVSVQLRE"
     misc_feature    20..220
                     /gene="NCCRP1"
                     /gene_synonym="FBXO50; NCCRP-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZVX7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    110..112
                     /gene="NCCRP1"
                     /gene_synonym="FBXO50; NCCRP-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:G3X9C2; propagated from
                     UniProtKB/Swiss-Prot (Q6ZVX7.1); phosphorylation site"
     misc_feature    128..130
                     /gene="NCCRP1"
                     /gene_synonym="FBXO50; NCCRP-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:G3X9C2; propagated from
                     UniProtKB/Swiss-Prot (Q6ZVX7.1); phosphorylation site"
     misc_feature    164..166
                     /gene="NCCRP1"
                     /gene_synonym="FBXO50; NCCRP-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:G3X9C2; propagated from
                     UniProtKB/Swiss-Prot (Q6ZVX7.1); phosphorylation site"
     regulatory      1951..1956
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NCCRP1"
                     /gene_synonym="FBXO50; NCCRP-1"
                     /note="hexamer: ATTAAA"
     polyA_site      1975
                     /gene="NCCRP1"
                     /gene_synonym="FBXO50; NCCRP-1"
                     /note="major polyA site"
ORIGIN
        1 agtcgcgcag cctcgaggga tggaggaggt gcgtgaggga cacgcgctcg gtggcgggat
       61 ggaagccgat gggcccgcga gcctccagga gctgcctccc tcgccacggt cgccttcacc
      121 gccgccgtcg ccgccaccac tgccctcgcc gccgtcgctg ccatcgcccg cagccccgga
      181 ggcccccgag ctccccgagc cggcgcagcc gtccgaggct cacgcccggc agctgctgct
      241 ggaggagtgg gggccgctga gcgggggcct ggagctgccc cagcgcctca cctggaagct
      301 gctcctgttg cggcggccgc tctaccgcaa cctgctgcgc tcgcccaacc ccgaaggcat
      361 caacatttat gagccagcac cccctactgg tcccacccag cgacccctgg aaactctggg
      421 caatttccgt ggctggtaca ttagaactga aaagctccag cagaaccaaa gctggacagt
      481 gaagcagcag tgtgtggacc ttctggccga gggcctgtgg gaggagctgc tggatgacga
      541 acaaccagcc attacggtca tggactggtt cgaggacagc cggctggatg cgtgcgtcta
      601 tgagctgcat gtctggctgc tggcggccga ccgccgcacg gtcattgctc agcaccacgt
      661 ggccccccga acttctggga gaggaccccc tggccgctgg gtccaggtgt cccacgtatt
      721 ccgccattat ggtcccggtg tgcgctttat ccacttcctg cacaaggcca agaaccgcat
      781 ggagcctggt gggctgcggc ggacacgggt gaccgactcc tccgtgtctg tgcagctccg
      841 ggagtgactg gctggctcct ctgtcctgac cccacagcac ctccctgacc tttaggagcc
      901 ccaactctta gtcacctcct aggcctctta tttctccctg gcccttggct tctcacttga
      961 tggacagctt cacacaccct taagcggtgg actccagcat tttcccagca ctgtctgagc
     1021 cccatgaggg cggagccact ccttgtaaat tcagtgcccg acagatgctc tggcacagat
     1081 gctttgtaga tctctgttga gagaatgcat agacacctgt gcccaaggat gctgagggct
     1141 ggtctctgct tctttgaact tcactgaaac tgaatgctca ctgctgtgtt gccagcacca
     1201 cccagcccag ggctgtgaac ggagtgggtg gcagcaaatg tgtgttgaaa ggggaatgaa
     1261 gccattcact tcactcagtt cctgtcccat ttaaccgccc cgatccttga tcttccatta
     1321 ccttcacatc ccggggtcct tctgaactga ccttgacctc tgatctcttc acacatctcc
     1381 ccttagcatc tccacttacc tacttttttt tttttttttg agatggcatc tcactctgtc
     1441 acccaggctg gagtgtagtg acacgatctc gactcactgc aatttccacc tctcaggttc
     1501 aagtggttct cctgcctcag cctctcaagt agctgggatt acaggtgcac agcacctccc
     1561 ccgactaatt tttatatttt tagtagagac gggatttcgc catgttggcc aggctggtct
     1621 caaactcctg acctcaagtg atctgcccac cttggcttcc caaagtgctg ggattgcaga
     1681 cgtgagtcac tgcgcccagc cattccatgt ctcttaagtc tcagaatctc ccctagctcc
     1741 ctccaggtgt ctgcagtggt tgtcccctca aagctgtccc acaccctcct ccgaggaccc
     1801 tttgtgtatc tcctccagct accgcagagc ccacaaaccc aggcatctat caaagtccct
     1861 cattcatgag ggtggtgagg acacagactg cgaccagaac agaaatatga aaatgtgaat
     1921 gacagcgtcc cccgtgtgtg gaatgtgggg attaaaagca tttatcaacc tctaa
//
LOCUS       NM_001001415            4785 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 429 (ZNF429), transcript variant 1,
            mRNA.
ACCESSION   NM_001001415
VERSION     NM_001001415.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4785)
  AUTHORS   Kim H, Ramsay E, Lee H, Wahl S and Dionne RA.
  TITLE     Genome-wide association study of acute post-surgical pain in humans
  JOURNAL   Pharmacogenomics 10 (2), 171-179 (2009)
   PUBMED   19207018
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   2  (bases 1 to 4785)
  AUTHORS   Abrink M, Aveskogh M and Hellman L.
  TITLE     Isolation of cDNA clones for 42 different Kruppel-related zinc
            finger proteins expressed in the human monoblast cell line U-937
  JOURNAL   DNA Cell Biol 14 (2), 125-136 (1995)
   PUBMED   7865130
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DA533537.1, SRR3476690.968948.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000358491.9/ ENSP00000351280.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010615.9, DA533537.1 and BM981242.1.
            On Nov 23, 2018 this sequence version replaced NM_001001415.3.
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4785
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p12"
     gene            1..4785
                     /gene="ZNF429"
                     /note="zinc finger protein 429"
                     /db_xref="GeneID:353088"
                     /db_xref="HGNC:HGNC:20817"
     misc_feature    111..113
                     /gene="ZNF429"
                     /note="upstream in-frame stop codon"
     CDS             171..2195
                     /gene="ZNF429"
                     /note="isoform a is encoded by transcript variant 1"
                     /codon_start=1
                     /product="zinc finger protein 429 isoform a"
                     /protein_id="NP_001001415.2"
                     /db_xref="CCDS:CCDS42537.1"
                     /db_xref="GeneID:353088"
                     /db_xref="HGNC:HGNC:20817"
                     /translation="MGPLTFTDVAIEFSLEEWQCLDTAQQNLYRNVMLENYRNLVFLGI
                     AVSKPDLITCLEKEKEPCKMKRHEMVDEPPVVCSHFAEDFWPEQDIKDSFQKVTLRRYD
                     KRGHENLQLRKGYKTVGDCKLYKGGYNGLNQCLTLTQSKMYHCDIYVKVFYAFSNADRY
                     KTRHTGKKPFQCKKCGKSFCMLSQLTQHKKIHIRENTYRCKEFGNAFNQSSALTNHKRI
                     YVGEKHYRCEECGKAFNHYSTLTNHKRIHTGEKPYKCKECGKAFSRYSTLTTHKRIHSG
                     EKPYKCDECGKTFSISSTFTKHKIIHTEEKPYKCKECGKAFNRSSTLTSHKRIHTGEKP
                     YKCEECGKAFNWSSTLTKHKVIHTGEKPYKCEECGKAFNQSSRLTRHKKIHTGEEPYKF
                     EKCGRVFTCSSTLTQDKKIHTGEKPYNCEECGKVFTYSSTLTRHKRIHTEEKPYKCNEC
                     GKAFNRSSHLTSHRRIHTGEKPYKCEECGKAFKQSSNLNSHKKIHSGEKPYKCEECGKA
                     FILSSRLTQHKKIHTGEKPYKCEECGKAFNRSSRLTQHKKIHTGEKPYKCKQCDKAFTH
                     SSNLSSHKKIHSGEKPYKCEECGKAFNRSSRLTQHKKIHTREKPYKCEECAKAFTRSSR
                     LTQHKKIHRMGVVAHACNPSTLGGRGGRITRSGDRDRPG"
     misc_feature    1983..1985
                     /gene="ZNF429"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P17019; propagated from
                     UniProtKB/Swiss-Prot (Q86V71.2); phosphorylation site"
     misc_feature    2127..2192
                     /gene="ZNF429"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86V71.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4761..4766
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF429"
                     /note="hexamer: AATAAA"
     polyA_site      4785
                     /gene="ZNF429"
                     /note="major polyA site"
ORIGIN
        1 acggtttccg gaatatggcg gggcgtttgg ctcttgctgc agccagagct ccaggtctcg
       61 tcttcatttc tgtgtccttt gttcttagag gcccagcctg tgtggccctg tgacccgcag
      121 atattgggag atacacagct aagactccag gaccccctgg aagcctagaa atgggaccat
      181 tgacatttac agatgtggcc atagaattct ctctggagga gtggcagtgc ctggacacag
      241 cacaacagaa cttatataga aatgtgatgt tagagaacta cagaaacttg gtcttcctgg
      301 gtattgctgt ttctaagcca gacctaatca cttgtctaga gaaagaaaaa gaaccctgca
      361 agatgaagcg acatgaaatg gtggatgaac ccccagttgt gtgttctcat tttgctgaag
      421 acttttggcc agagcaagac ataaaagatt ctttccaaaa agtgacactg aggagatatg
      481 ataaacgtgg acatgagaac ttacaattaa gaaaaggcta taaaactgta ggtgattgta
      541 agctatacaa aggaggttat aatggactta accaatgttt gacacttacc cagagcaaaa
      601 tgtatcactg tgatatatat gtaaaagtct tttatgcatt ttcaaatgca gatagataca
      661 agacaagaca tactggaaag aaacctttcc agtgtaaaaa atgtggcaaa tcattttgca
      721 tgctttcaca actaactcaa cataagaaaa ttcatattag agagaatacc tacagatgta
      781 aagaatttgg caatgccttt aatcagtcct cagcccttac taaccataag agaatttatg
      841 ttggtgagaa acactacaga tgtgaagaat gtggcaaagc atttaaccac tactcaaccc
      901 ttactaacca taagagaatt catactggag agaaacccta caaatgtaaa gaatgtggca
      961 aagcctttag caggtactca acccttacta cccataagag aattcattct ggagagaagc
     1021 cctacaaatg tgatgaatgt ggcaaaacct ttagcatatc ctcaaccttt actaaacata
     1081 agataattca tactgaagag aaaccctaca aatgtaaaga atgtggcaaa gcctttaacc
     1141 ggtcctcaac ccttactagc cataagagaa tacatactgg tgagaaaccc tacaaatgtg
     1201 aagaatgtgg caaagccttt aactggtctt caactcttac taaacataag gtaattcata
     1261 ctggagagaa gccctacaaa tgtgaagaat gtggcaaagc ttttaaccag tcttcaagac
     1321 ttactcgaca taaaaaaatt catactggag aggaacccta caaatttgaa aaatgtggca
     1381 gagtttttac ctgttcctca acacttactc aagacaagaa aattcatact ggagagaaac
     1441 cctacaattg tgaagaatgt ggcaaagttt ttacctattc ctctacactt actagacata
     1501 agagaattca tactgaagag aaaccctata aatgtaacga atgtggcaaa gcttttaacc
     1561 ggtcctcaca ccttactagc cataggagaa ttcatactgg agagaaaccc tacaaatgtg
     1621 aagaatgtgg caaagccttt aagcagtcct caaaccttaa cagtcataaa aaaattcata
     1681 gtggagagaa accctacaaa tgtgaagaat gtggcaaagc ttttatcctg tcctcaagac
     1741 ttactcaaca taagaaaatt catactggag agaaacctta caaatgtgaa gaatgtggca
     1801 aagcttttaa ccggtcctca agacttactc aacataagaa aattcatact ggagagaaac
     1861 cctacaaatg taaacaatgt gacaaagctt ttacccactc ctcaaacctt agtagtcata
     1921 agaaaattca tagtggagag aaaccctaca aatgtgaaga atgtggcaaa gcttttaatc
     1981 ggtcctcaag acttactcaa cataagaaaa ttcatactag agagaaacct tacaaatgtg
     2041 aagaatgtgc caaagctttt acccggtctt caagacttac tcaacataag aaaattcata
     2101 ggatgggtgt ggtggctcat gcctgtaatc ccagcacttt gggaggcaga ggtgggcgga
     2161 tcacgaggtc aggagatcga gaccgtcctg gctaacatgg tgaaaccccg tctctactaa
     2221 aaatacaaaa aaaaaaaaaa aaaaaattag ccaggcgtgg tggtgggcac ttgtagtccc
     2281 acctactcgg gaggctgagg caggagaatg gcctgaaccc ggaggtggag cttgcattga
     2341 gccaagatca caccactgca ctccagcctg ggtgacagag ccagactcca tctcaaaaaa
     2401 aaaaaaaaaa aaaaaagaaa agaaaattca taggccaggt atggtggctc atgcctgcct
     2461 gtaatcccag cactttggga ggccgaggcg ggtggatcac gaggtcagga gttcaagacc
     2521 agcctggtca acatggtaaa accccatctc tactaaaaat acaaaaatta gctggatgtg
     2581 gtggcacatg cctgtagtcc tagctacttg ggaggctgag gcaggagaat tgcttgaacc
     2641 tgggagccag aggtagcagt gagctgagat cacgccacta cactccagcc tggatgacaa
     2701 aacaagactc tgtctaaaaa atatataaat aaataaaaga aagaaaattc atagtagaga
     2761 gaaaccttac aaatgtgtag aatgtggcaa aactcgtttt aactaatgct cacatcttat
     2821 tgcatagaaa agcatttata cctgaaaaaa ggtatacaaa tttaaaaaat gtggaaaagc
     2881 cattaaaatc tgttcacatc ttaacaacag agagttgata cttaataaga gcattgtaag
     2941 tgcaattact gtcaaacaat cttgtagaaa atatcatcct ttaaagtgaa tgagactagt
     3001 ctgaggaaaa acattacaaa tgtaaagagg gttatagtgc atttacttgt atcacagatc
     3061 ttgttgtaca cattttatac tagaggaaaa ccctgaagca gttgcaccaa ctttgttcaa
     3121 catcagaaat ttatattgga gaaaaatcca gcaagtgtaa taaatttgga aaaacttttt
     3181 tttccccaaa aactatacct caggaaacaa tggagagttt atattaacat atatttttgc
     3241 atatggccat atgtataaaa atatttaatt caaaattgaa tttaaaaagt ctacataaat
     3301 atcatacata gatatgtatg atattgaata catgtattaa atacatagaa tatgatattt
     3361 aatacataga aaagtctaca tgaatatcag aatttacagt agaaacaact aagacacaaa
     3421 cacttgagac attacactaa agtgctgagt atagaaaata aaactaaagt tgttaaatta
     3481 tttgtatata acttttaaaa gagtggaaga tattttgcaa agttatattc aaagtgtact
     3541 ttttatttat ttttttgaga tggagtctca ctttgttgcc tacgttggag ttcagtggca
     3601 caatttcagc ttgctgccaa cttcgacctt tgggttcaag cagttctcct gccacagcct
     3661 cctgagtagc tgggaataca ggcatacacc agcatgtctg gctatttttt tttttttttg
     3721 tatttttagt agagatgaga tttcaccatt ttgtccaggg tggtctcaaa ctcttcatct
     3781 caagtgatct gcccaccttg gcctcccaga gtgctgggat tgcagccatg agccactgca
     3841 cccagcccaa agtatgcttt taaaaatatg tatatatata aaatttttga aaagcaaatt
     3901 atgatataat tcaagtatca aattacttca tgctgtttca ttgttcctat tcacatgtga
     3961 aagcatgtga tcaattattg ctgcatcaca tatagactca ttaggtggaa attatggcct
     4021 cttctgtaaa aaagtaagga cattaaaatg taagatgctt gatgaaaatc taagtggaga
     4081 ggctctttgt ggttaactta ttgagtgatg tatgaggtcg atgttcagag taatatgcct
     4141 ctgtattaca gtgatagaaa atatttttta gttaaaagtg aatttataat aaaattgtaa
     4201 atcattttag tgattgagct tttatgttat aaaatgcagt atatttcaaa atttttaaat
     4261 tatatgtaaa tttgatttta tttgttacca tgttaagact attgtgcatt taatgaagca
     4321 ttattatgct atcaacttta acctatccca cgttactcaa gggtgtagct aaatgaaggt
     4381 agcagtatgc tatttagtaa catagtggaa tagcatctct agtaatctct tttgccagta
     4441 gctttaactg gcagataagt taatattgtt cccataggtt aaatatttat cctttttttg
     4501 atatttaaat ttttttctta tttttttgtg ggtacataat atgtgtatat atttatgcaa
     4561 atctggcata ttttgataga ggcatacaat atgtaataat tacatcaatt acatcagggt
     4621 aaattatgta gccattactt gtaacattta tcttttacaa acaactcaat tatgcacttt
     4681 tagttatttt aaagtgtaca attaaattgc tattgactgc atggttatct ttgtggtata
     4741 aaaatttata tataagtata aataaactca tttctgagtc ttaaa
//
LOCUS       NM_001001417            2120 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens TBC1 domain family member 3B (TBC1D3B), mRNA.
ACCESSION   NM_001001417
VERSION     NM_001001417.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2120)
  AUTHORS   Hodzic D, Kong C, Wainszelbaum MJ, Charron AJ, Su X and Stahl PD.
  TITLE     TBC1D3, a hominoid oncoprotein, is encoded by a cluster of
            paralogues located on chromosome 17q12
  JOURNAL   Genomics 88 (6), 731-736 (2006)
   PUBMED   16863688
REFERENCE   2  (bases 1 to 2120)
  AUTHORS   Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR,
            Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR,
            Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen
            CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K,
            FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham
            DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S,
            Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G,
            Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P,
            Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J,
            Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith
            C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker
            CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J,
            Lander ES and Nusbaum C.
  TITLE     DNA sequence of human chromosome 17 and analysis of rearrangement in
            the human lineage
  JOURNAL   Nature 440 (7087), 1045-1049 (2006)
   PUBMED   16625196
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK292257.1, AK225985.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000611257.5/ ENSP00000478473.1
            RefSeq Select criteria      :: based on expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC243829.3.
            On Aug 13, 2020 this sequence version replaced NM_001001417.6.
            Summary: This gene encodes a protein that is similar to TBC1 domain
            family, member 3. This protein contains a TBC (Tre-2, Bub2p, and
            Cdc16p) domain, which is found in proteins involved in RAB GTPase
            signaling and vesicle trafficking. There are multiple copies of
            this gene located within a cluster of chemokine genes on chromosome
            17q. [provided by RefSeq, Apr 2009].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2120
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..2120
                     /gene="TBC1D3B"
                     /gene_synonym="PRC17; TBC1D3I; TBC1D3L"
                     /note="TBC1 domain family member 3B"
                     /db_xref="GeneID:414059"
                     /db_xref="HGNC:HGNC:27011"
                     /db_xref="MIM:610144"
     misc_feature    141..143
                     /gene="TBC1D3B"
                     /gene_synonym="PRC17; TBC1D3I; TBC1D3L"
                     /note="upstream in-frame stop codon"
     CDS             159..1808
                     /gene="TBC1D3B"
                     /gene_synonym="PRC17; TBC1D3I; TBC1D3L"
                     /note="Rab GTPase-activating protein PRC17 duplicate;
                     prostate cancer gene 17 duplicate; TBC1 domain family,
                     member 3I; TBC1 domain family member 3B/I; TBC1 domain
                     family, member 3-like"
                     /codon_start=1
                     /product="TBC1 domain family member 3B"
                     /protein_id="NP_001001417.6"
                     /db_xref="CCDS:CCDS42300.1"
                     /db_xref="GeneID:414059"
                     /db_xref="HGNC:HGNC:27011"
                     /db_xref="MIM:610144"
                     /translation="MDVVEVAGSWWAQEREDIIMKYEKGHRAGLPEDKGPKPFRSYNNN
                     VDHLGIVHETELPPLTAREAKQIRREISRKSKWVDMLGDWEKYKSSRKLIDRAYKGMPM
                     NIRGPMWSVLLNIEEMKLKNPGRYQIMKEKGKRSSEHIQRIDRDISGTLRKHMFFRDRY
                     GTKQRELLHILLAYEEYNPEVGYCRDLSHIAALFLLYLPEEDAFWALVQLLASERHSLQ
                     GFHSPNGGTVQGLQDQQEHVVATSQSKTMGHQDKKDLCGQCSPLGCLIRILIDGISLGL
                     TLRLWDVYLVEGEQALMPITRIAFKVQQKRLTKTSRCGPWARFCNRFVDTWARDEDTVL
                     KHLRASMKKLTRKQGDLPPPAKPEQGSSASRPVPASRGRKTLCKGDRQAPPGPPARFPR
                     PIWSASPPRAPRSSTPCPGGAVREDTYPVGTQGVPSPALAQGGPQGSWRFLQWNSMPRL
                     PTDLDVEGPWFRHYDFRQSCWVRAISQEDQLAPCWQAEHPAERVRSAFAAPSTDSDQGT
                     PFRARDEQQCAPTSGPCLCGLHLESSQFPPGF"
     misc_feature    1206..1436
                     /gene="TBC1D3B"
                     /gene_synonym="PRC17; TBC1D3I; TBC1D3L"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDS4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2100..2105
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBC1D3B"
                     /gene_synonym="PRC17; TBC1D3I; TBC1D3L"
                     /note="hexamer: AATAAA"
     polyA_site      2120
                     /gene="TBC1D3B"
                     /gene_synonym="PRC17; TBC1D3I; TBC1D3L"
                     /note="major polyA site"
ORIGIN
        1 agaatgtcac tggtgcttag cacctatctg ctctctggcc tgcctcagtg gtctacagca
       61 gttacacaca ggcagtggta tctgtgagca gctctgtgga ctcaaaggtt ttctccctga
      121 gaggcatgac ccaggccagc tgattcatca gaatcaggat ggacgtggta gaggtcgcgg
      181 gtagttggtg ggcacaagag cgagaggaca tcattatgaa atacgaaaag ggacaccgag
      241 ctgggctgcc agaggacaag gggcctaagc cttttcgaag ctacaacaac aacgtcgatc
      301 atttggggat tgtacatgag acggagctgc ctcctctgac tgcgcgggag gcgaagcaaa
      361 ttcggcggga gatcagccga aagagcaagt gggtggatat gctgggagac tgggagaaat
      421 acaaaagcag cagaaagctc atagatcgag cgtacaaggg aatgcccatg aacatccggg
      481 gcccgatgtg gtcagtcctc ctgaacattg aggaaatgaa gttgaaaaac cccggaagat
      541 accagatcat gaaggagaag ggcaagaggt catctgagca catccagcgc atcgaccggg
      601 acataagcgg gacattaagg aagcatatgt tcttcaggga tcgatacgga accaagcagc
      661 gggaactact ccacatcctc ctggcatatg aggagtataa cccggaggtg ggctactgca
      721 gggacctgag ccacatcgcc gccttgttcc tcctctatct tcctgaggag gatgcattct
      781 gggcactggt gcagctgctg gccagtgaga ggcactccct gcagggattt cacagcccaa
      841 atggcgggac cgtccagggg ctccaagacc aacaggagca tgtggtagcc acgtcacaat
      901 ccaagaccat ggggcatcag gacaagaaag atctatgtgg gcagtgttcc ccgttaggct
      961 gcctcatccg gatattgatt gacgggatct ctctcgggct caccctgcgc ctgtgggacg
     1021 tgtatctggt agaaggcgaa caggcgttga tgccgataac aagaatcgcc tttaaggttc
     1081 agcagaagcg cctcacgaag acgtccaggt gtggcccgtg ggcacgtttt tgcaaccggt
     1141 tcgttgatac ctgggccagg gatgaggaca ctgtgctcaa gcatcttagg gcctctatga
     1201 agaaactaac aagaaagcag ggggacctgc cacccccagc caaacccgag caagggtcgt
     1261 cggcatccag gcctgtgccg gcttcacgtg gcaggaagac cctctgcaag ggggacaggc
     1321 aggcccctcc aggcccacca gcccggttcc cgcggcccat ttggtcagct tccccgccac
     1381 gggcacctcg ttcttccaca ccctgtcctg gtggggctgt ccgggaagac acctaccctg
     1441 tgggcactca gggtgtgccc agcccggccc tggctcaggg aggacctcag ggttcctgga
     1501 gattcctgca gtggaactcc atgccccgcc tcccaacgga cctggacgta gaggggcctt
     1561 ggttccgcca ttatgatttc agacagagct gctgggtccg tgccatatcc caggaggacc
     1621 agctggcccc ctgctggcag gctgaacacc ctgcggagcg ggtgagatcg gctttcgctg
     1681 cacccagcac tgattccgac cagggcaccc ccttcagagc tagggacgaa cagcagtgtg
     1741 ctcccacctc agggccttgc ctctgcggcc tccacttgga aagttctcag ttccctccag
     1801 gcttctagaa gcatctgggc cagggctcat ggctggataa tttccctagg cttaacaacc
     1861 caagcaagct tcgcgtcctc gttttatttt tggttaaact tatgaatatg tattaagaaa
     1921 gagtgcagct tgagagacat tcagagatgg aacacaccag accccagatc acaaagccaa
     1981 ccatgcccag cccctcccag caccccaagc cccacgacca tcgttctgaa ttctgacgac
     2041 accgtgagcc tgcctttgta ctttaaactc atggaaggat aactaccttc acgttttgaa
     2101 ataaatgttt cctgttgaaa
//
LOCUS       NM_001001418            2105 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens TBC1 domain family member 3C (TBC1D3C), mRNA.
ACCESSION   NM_001001418
VERSION     NM_001001418.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2105)
  AUTHORS   Hodzic D, Kong C, Wainszelbaum MJ, Charron AJ, Su X and Stahl PD.
  TITLE     TBC1D3, a hominoid oncoprotein, is encoded by a cluster of
            paralogues located on chromosome 17q12
  JOURNAL   Genomics 88 (6), 731-736 (2006)
   PUBMED   16863688
REFERENCE   2  (bases 1 to 2105)
  AUTHORS   Paulding CA, Ruvolo M and Haber DA.
  TITLE     The Tre2 (USP6) oncogene is a hominoid-specific gene
  JOURNAL   Proc Natl Acad Sci U S A 100 (5), 2507-2511 (2003)
   PUBMED   12604796
  REMARK    GeneRIF: The Tre2 (USP6) oncogene is derived from the chimeric
            fusion of two genes, USP32 (NY-REN-60), and TBC1D3.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK313329.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000622206.2/ ENSP00000482345.1
            RefSeq Select criteria      :: based on computational evidence
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC233968.3.
            On or before Mar 22, 2015 this sequence version replaced
            XM_011547460.1, XM_006725572.1, NM_001001418.5.
            Summary: This gene represents one of a cluster of related genes
            found on chromosome 17. The proteins encoded by this gene family
            contain a TBC (Tre-2, Bub2p, and Cdc16p) domain and may be involved
            in GTPase signaling and vesicle trafficking. [provided by RefSeq,
            Apr 2014].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2105
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..2105
                     /gene="TBC1D3C"
                     /gene_synonym="PRC17; TBC1D3; TBC1D3A; TBC1D3D"
                     /note="TBC1 domain family member 3C"
                     /db_xref="GeneID:414060"
                     /db_xref="HGNC:HGNC:24889"
                     /db_xref="MIM:610806"
     misc_feature    123..125
                     /gene="TBC1D3C"
                     /gene_synonym="PRC17; TBC1D3; TBC1D3A; TBC1D3D"
                     /note="upstream in-frame stop codon"
     CDS             141..1790
                     /gene="TBC1D3C"
                     /gene_synonym="PRC17; TBC1D3; TBC1D3A; TBC1D3D"
                     /note="Rab GTPase-activating protein PRC17; TBC1 domain
                     family member 3C/3D; TBC1 domain family member 3C-like
                     protein ENSP00000341742; Prostate cancer gene 17 protein;
                     Protein TRE17-alpha"
                     /codon_start=1
                     /product="TBC1 domain family member 3C"
                     /protein_id="NP_001001418.5"
                     /db_xref="CCDS:CCDS74045.1"
                     /db_xref="GeneID:414060"
                     /db_xref="HGNC:HGNC:24889"
                     /db_xref="MIM:610806"
                     /translation="MDVVEVAGSWWAQEREDIIMKYEKGHRAGLPEDKGPKPFRSYNNN
                     VDHLGIVHETELPPLTAREAKQIRREISRKSKWVDMLGDWEKYKSSRKLIDRAYKGMPM
                     NIRGPMWSVLLNTEEMKLKNPGRYQIMKEKGKRSSEHIQRIDRDVSGTLRKHIFFRDRY
                     GTKQRELLHILLAYEEYNPEVGYCRDLSHIAALFLLYLPEEDAFWALVQLLASERHSLQ
                     GFHSPNGGTVQGLQDQQEHVVATSQPKTMGHQDKKDLCGQCSPLGCLIRILIDGISLGL
                     TLRLWDVYLVEGEQALMPITRIAFKVQQKRLTKTSRCGPWARFCNRFVDTWARDEDTVL
                     KHLRASMKKLTRKKGDLPPPAKPEQGSSASRPVPASRGGKTLCKGDRQAPPGPPARFPR
                     PIWSASPPRAPRSSTPCPGGAVREDTYPVGTQGVPSPALAQGGPQGSWRFLQWNSMPRL
                     PTDLDVEGPWFRHYDFRQSCWVRAISQEDQLAPCWQAEHPAERVRSAFAAPSTDSDQGT
                     PFRARDEQQCAPTSGPCLCGLHLESSQFPPGF"
     misc_feature    1188..1397
                     /gene="TBC1D3C"
                     /gene_synonym="PRC17; TBC1D3; TBC1D3A; TBC1D3D"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IPX1.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2082..2087
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBC1D3C"
                     /gene_synonym="PRC17; TBC1D3; TBC1D3A; TBC1D3D"
     polyA_site      2105
                     /gene="TBC1D3C"
                     /gene_synonym="PRC17; TBC1D3; TBC1D3A; TBC1D3D"
ORIGIN
        1 agcacctatc tgctctctgg tctgcctcag tggtctacag cagttacaca caggcagtgg
       61 tatctgtgag cagctctgtg gactcaaagg ttttctccct gagaggcacg acccaggcca
      121 gctgattcat cagaatcagg atggacgtgg tagaggtcgc gggcagttgg tgggcacaag
      181 agcgagagga catcattatg aaatacgaaa agggacaccg agctgggctg ccagaggaca
      241 aggggcctaa gccttttcga agctacaaca acaacgtcga tcatttgggg attgtacatg
      301 agacggagct gcctcctctg actgcgcggg aggcgaagca aattcggcgg gagatcagcc
      361 gaaagagcaa gtgggtggat atgctgggag actgggagaa atacaaaagc agcagaaagc
      421 tcatagatcg agcgtacaag ggaatgccca tgaacatccg gggcccgatg tggtcagtcc
      481 tcctgaacac tgaggaaatg aagttgaaaa accccggaag ataccagatc atgaaggaga
      541 agggcaagag gtcatctgag cacatccagc gcatcgaccg ggacgtaagc gggacattaa
      601 ggaagcatat attcttcagg gatcgatacg gaaccaagca gcgggaacta ctccacatcc
      661 tcctggcata tgaggagtac aacccggagg tgggctactg cagggacctg agccacatcg
      721 ccgccttgtt cctcctctat cttcctgagg aggatgcatt ctgggcactg gtgcagctgc
      781 tggccagtga gaggcactcc ctgcagggat ttcacagccc aaatggcggg accgtccagg
      841 ggctccaaga ccaacaggag catgtggtag ccacgtcaca acccaagacc atggggcatc
      901 aggacaagaa agatctatgt gggcagtgtt ccccgttagg ctgcctcatc cggatattga
      961 ttgacgggat ctctctcggg ctcaccctgc gcctgtggga cgtgtatctg gtagaaggcg
     1021 aacaggcgtt gatgccgata acaagaatcg cctttaaggt tcagcagaag cgcctcacga
     1081 agacgtccag gtgtggcccg tgggcacgtt tttgcaaccg gttcgttgat acctgggcca
     1141 gggatgagga cactgtgctc aagcatctta gggcctctat gaagaaacta acaagaaaga
     1201 agggggacct gccaccccca gccaaacccg agcaagggtc gtcggcatcc aggcctgtgc
     1261 cggcttcacg tggcgggaag accctctgca agggggacag gcaggcccct ccaggcccac
     1321 cagcccggtt cccgcggccc atttggtcag cttccccgcc acgggcacct cgttcttcca
     1381 caccctgtcc tggtggggct gtccgggaag acacctaccc tgtgggcact cagggtgtgc
     1441 ccagcccggc cctggctcag ggaggacctc agggttcctg gagattcctg cagtggaact
     1501 ccatgccccg cctcccaacg gacctggacg tagagggccc ttggttccgc cattatgatt
     1561 tcagacagag ctgctgggtc cgtgccatat cccaggagga ccagctggcc ccctgctggc
     1621 aggctgaaca ccctgcggag cgggtgagat cggctttcgc tgcacccagc actgattccg
     1681 accagggcac ccccttcaga gctagggacg aacagcagtg tgctcccacc tcagggcctt
     1741 gcctctgcgg cctccacttg gaaagttctc agttccctcc aggcttctag aagcatctgg
     1801 gccagggctc atggctggat aatttcccta ggcttaacaa cccaagcaag cttcgcatcc
     1861 tcgttttatt tttggttaaa cttatgaaaa tgtattaaga aagagtgcag ctcgagagag
     1921 attcagagat ggaacacacc agaccccaga tcacaaagcc aaccatgccc agcccctccc
     1981 agcaccccca gccccacgac catcgttctg aattctgacg acaccgtgag cctacctttg
     2041 tacttcaaac tcatggaagg ataaccacct tcatgttttg aaataaatgt ttcctgttga
     2101 aatga
//
LOCUS       NM_001001433            4937 bp    mRNA    linear   PRI 06-JUL-2023
DEFINITION  Homo sapiens syntaxin 16 (STX16), transcript variant 1, mRNA.
ACCESSION   NM_001001433
VERSION     NM_001001433.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4937)
  AUTHORS   Zhao P, Liu J, Cheng J, Li Q, Fu S, Wang Y, Yang X and Ma X.
  TITLE     Analysis of defects in GNAS and STX16 genes in a Chinese family with
            pseudohypoparathyroidism
  JOURNAL   Minerva Endocrinol (Torino) 47 (1), 131-135 (2022)
   PUBMED   33269569
  REMARK    GeneRIF: Analysis of defects in GNAS and STX16 genes in a Chinese
            family with pseudohypoparathyroidism.
REFERENCE   2  (bases 1 to 4937)
  AUTHORS   Kiuchi Z, Reyes M, Hanna P, Sharma A, DeClue T, Olney RC, Tebben P
            and Juppner H.
  TITLE     Progression of PTH Resistance in Autosomal Dominant
            Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions
  JOURNAL   J Clin Endocrinol Metab 107 (2), e681-e687 (2022)
   PUBMED   34477200
  REMARK    GeneRIF: Progression of PTH Resistance in Autosomal Dominant
            Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions.
REFERENCE   3  (bases 1 to 4937)
  AUTHORS   Kiuchi Z, Reyes M and Juppner H.
  TITLE     Preferential Maternal Transmission of STX16-GNAS Mutations
            Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib
            (PHP1B): Another Example of Transmission Ratio Distortion
  JOURNAL   J Bone Miner Res 36 (4), 696-703 (2021)
   PUBMED   33247854
  REMARK    GeneRIF: Preferential Maternal Transmission of STX16-GNAS Mutations
            Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib
            (PHP1B): Another Example of Transmission Ratio Distortion.
REFERENCE   4  (bases 1 to 4937)
  AUTHORS   Chen Y, Gan BQ and Tang BL.
  TITLE     Syntaxin 16: unraveling cellular physiology through a ubiquitous
            SNARE molecule
  JOURNAL   J Cell Physiol 225 (2), 326-332 (2010)
   PUBMED   20589833
  REMARK    Review article
REFERENCE   5  (bases 1 to 4937)
  AUTHORS   Chua CE and Tang BL.
  TITLE     Syntaxin 16 is enriched in neuronal dendrites and may have a role in
            neurite outgrowth
  JOURNAL   Mol Membr Biol 25 (1), 35-45 (2008)
   PUBMED   17852734
  REMARK    GeneRIF: Syntaxin 16 may thus play a role in neurite outgrowth and
            perhaps other specific dendritic anterograde/retrograde traffic.
REFERENCE   6  (bases 1 to 4937)
  AUTHORS   Dulubova I, Yamaguchi T, Gao Y, Min SW, Huryeva I, Sudhof TC and
            Rizo J.
  TITLE     How Tlg2p/syntaxin 16 'snares' Vps45
  JOURNAL   EMBO J 21 (14), 3620-3631 (2002)
   PUBMED   12110575
REFERENCE   7  (bases 1 to 4937)
  AUTHORS   Mallard F, Tang BL, Galli T, Tenza D, Saint-Pol A, Yue X, Antony C,
            Hong W, Goud B and Johannes L.
  TITLE     Early/recycling endosomes-to-TGN transport involves two SNARE
            complexes and a Rab6 isoform
  JOURNAL   J Cell Biol 156 (4), 653-664 (2002)
   PUBMED   11839770
REFERENCE   8  (bases 1 to 4937)
  AUTHORS   Simonsen A, Bremnes B, Ronning E, Aasland R and Stenmark H.
  TITLE     Syntaxin-16, a putative Golgi t-SNARE
  JOURNAL   Eur J Cell Biol 75 (3), 223-231 (1998)
   PUBMED   9587053
REFERENCE   9  (bases 1 to 4937)
  AUTHORS   Tang BL, Low DY, Lee SS, Tan AE and Hong W.
  TITLE     Molecular cloning and localization of human syntaxin 16, a member of
            the syntaxin family of SNARE proteins
  JOURNAL   Biochem Biophys Res Commun 242 (3), 673-679 (1998)
   PUBMED   9464276
REFERENCE   10  (bases 1 to 4937)
  AUTHORS   Haldeman-Englert,C.R., Hurst,A.C.E. and Levine,M.A.
  TITLE     Disorders of GNAS Inactivation
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   29072892
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.213711.1,
            SRR1803617.15616.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371141.8/ ENSP00000360183.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL050327.6, AL139349.37 and
            KF456959.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001001433.2.
            Summary: This gene encodes a protein that is a member of the
            syntaxin or t-SNARE (target-SNAP receptor) family. These proteins
            are found on cell membranes and serve as the targets for V-SNARES
            (vesicle-SNAP receptors) permitting specific synaptic vesicle
            docking and fusion. A microdeletion in the region of chromosome 20
            where this gene is located has been associated with
            pseudohypoparathyroidism type Ib. Multiple transcript variants have
            been found for this gene. Read-through transcription also exists
            between this gene and the neighboring downstream
            aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar
            2011].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a, also referred to as
            isoform B).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4937
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.32"
     gene            1..4937
                     /gene="STX16"
                     /gene_synonym="SYN-16; SYN16"
                     /note="syntaxin 16"
                     /db_xref="GeneID:8675"
                     /db_xref="HGNC:HGNC:11431"
                     /db_xref="MIM:603666"
     misc_feature    719..721
                     /gene="STX16"
                     /gene_synonym="SYN-16; SYN16"
                     /note="upstream in-frame stop codon"
     CDS             725..1702
                     /gene="STX16"
                     /gene_synonym="SYN-16; SYN16"
                     /note="isoform a is encoded by transcript variant 1"
                     /codon_start=1
                     /product="syntaxin-16 isoform a"
                     /protein_id="NP_001001433.1"
                     /db_xref="CCDS:CCDS13468.1"
                     /db_xref="GeneID:8675"
                     /db_xref="HGNC:HGNC:11431"
                     /db_xref="MIM:603666"
                     /translation="MATRRLTDAFLLLRNNSIQNRQLLAEQVSSHITSSPLHSRSIAAE
                     LDELADDRMALVSGISLDPEAAIGVTKRPPPKWVDGVDEIQYDVGRIKQKMKELASLHD
                     KHLNRPTLDDSSEEEHAIEITTQEITQLFHRCQRAVQALPSRARACSEQEGRLLGNVVA
                     SLAQALQELSTSFRHAQSGYLKRMKNREERSQHFFDTSVPLMDDGDDNTLYHRGFTEDQ
                     LVLVEQNTLMVEEREREIRQIVQSISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIK
                     TEDGLKQLHKAEQYQKKNRKMLVILILFVIIIVLIVVLVGVKSR"
     misc_feature    845..847
                     /gene="STX16"
                     /gene_synonym="SYN-16; SYN16"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BVI5; propagated from
                     UniProtKB/Swiss-Prot (O14662.3); phosphorylation site"
     misc_feature    1628..1690
                     /gene="STX16"
                     /gene_synonym="SYN-16; SYN16"
                     /note="propagated from UniProtKB/Swiss-Prot (O14662.3);
                     transmembrane region"
     regulatory      4794..4799
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STX16"
                     /gene_synonym="SYN-16; SYN16"
                     /note="hexamer: AATAAA"
     polyA_site      4827
                     /gene="STX16"
                     /gene_synonym="SYN-16; SYN16"
                     /note="major polyA site"
     regulatory      4883..4888
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STX16"
                     /gene_synonym="SYN-16; SYN16"
                     /note="hexamer: AATAAA"
     regulatory      4901..4906
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STX16"
                     /gene_synonym="SYN-16; SYN16"
                     /note="hexamer: ATTAAA"
     polyA_site      4909
                     /gene="STX16"
                     /gene_synonym="SYN-16; SYN16"
                     /note="major polyA site"
     polyA_site      4937
                     /gene="STX16"
                     /gene_synonym="SYN-16; SYN16"
ORIGIN
        1 agatccgggg atggagggag ccggagaaga ggagtgagaa ggccggggag gcaggccctg
       61 ctgtcttcct gcaggccggc agcctgctgg cagtggagga ccaggccgtc caggaaagga
      121 aggggtcagg aggtcgggca gggcctcagc aggttcagac aagtccccag aagggagctg
      181 caggcgccct cgagtccagg ccccaagcct ggctccggtt gtccaaagag ggcctaggcc
      241 aggcctctgg tgcggaaact gagtcacagc cagacctcag ggcacggcct agacgcttac
      301 gagccaaagt taggggtaga gagcagagac ctccgggggg tctcagggag tagggggctt
      361 cagggcctcc cagtctagag ccggattggc gagttagacg cttgtagatc caaggttgga
      421 ttggggtggg gtctctggga cgttggatcg ctacgcaagg attgggggga ttcaagtgct
      481 tagagatcga agtctgccct gggtaggggg agtcagacaa ttggaaagcc taggtagtta
      541 tttggggagg ggtctctacg ccttggcgaa gcgcacagct gcatcttttt ggcttgaggc
      601 ctgaggcctt gtcgagaagc ttccgtgaaa gggtgggcca gccgggccac gagaaagaaa
      661 gtgaataaat caggaatata agtgggcggg gggcccctga gaggggggtc gcaaagggtg
      721 agacatggcc accaggcgtt taaccgacgc tttcttgttg ttgcggaata attccatcca
      781 aaaccggcag ctgttagccg agcaagtgag tagtcacatc acctccagcc ctctgcattc
      841 acgtagcatt gctgcggagc tggacgagct tgctgatgac cgtatggcac tggtgtcagg
      901 catcagctta gatccagaag cagcgattgg tgtgacaaaa cggccacctc ctaagtgggt
      961 ggatggagtg gatgaaattc agtatgatgt tggccggatt aagcagaaga tgaaagaatt
     1021 ggccagcctt catgacaagc atttaaacag acccaccctg gatgacagca gcgaagagga
     1081 acatgccatt gagataacta cccaagagat cactcagctc ttccacaggt gccagcgtgc
     1141 cgtgcaggcc ctgccgagcc gggcccgggc ctgctccgag caggaggggc ggctgcttgg
     1201 gaacgtggtg gcctcgctgg cgcaggccct gcaggaactc tccaccagct tccggcacgc
     1261 acagtcaggc tacctcaaac gcatgaagaa tcgagaggaa agatcccagc attttttcga
     1321 cacatcagta ccactaatgg atgatggaga cgataacact ctttaccatc ggggttttac
     1381 agaggaccag ttagttctgg tggagcagaa cacactgatg gtggaagagc gggaacgaga
     1441 gattcgccag attgtacagt ccatttctga cctgaatgaa atattcaggg acttaggggc
     1501 gatgattgta gaacagggta cagtccttga cagaattgac tataacgttg aacagtcctg
     1561 tatcaaaact gaagatggtt tgaaacagct tcacaaggca gaacagtatc aaaagaagaa
     1621 tcggaagatg cttgtgattt taatattatt tgtcatcatc attgtgctca ttgttgtcct
     1681 cgttggcgtg aagtctcgat aagtggcatt gggttttcgt gtgtgccgcg cgtgtggatc
     1741 tcccgggtgt gaggggcttg gcctgcgccc cgccagctgc ccgcagaggt gcagcctcga
     1801 ggaatctgag ggcgtcgggg cagcgaacct ttgcatccac ggactcctcc ttccctagtc
     1861 ctgctcaagc ggtccgggga atgggttttt gtttttcctt cattgttgag aatttaagga
     1921 cctttgatac tgctgcacaa tagagattga gttctgggat cagttataat atatattttt
     1981 tttagaaaga gaaaatgagc tgagagttta caggcactgc agaagctgtt cagtattata
     2041 tgtgtatatg ctattttttt agcagccatg tctgagcaga atgttaacat aatttttgga
     2101 aaaattttct ttaaaccatc tggtttttaa gaaatttggt accaaaaatt gatgagtaga
     2161 ggcaaaaatg ccccttcatc tttctctata tattttccag ttgaaaacaa actaagaagt
     2221 cctttaagaa tttataatcc gttccccatt aacttaattt agcttttcca tcactgttaa
     2281 tgatcagagt aacaaagtgt gaaaaataag aaaccatcat tgatgttaat taacacattt
     2341 agatgggcca gttaaaacag cttcataagt tttaaattaa ttgtaaatgg aatattcctc
     2401 atttaaaatt tttgcactgc attttctact gtaaaccaaa agaggttact aagcaaaacc
     2461 acctaaattt aagttggtga tttaaatgaa tctcacatta aaagaaagct tgacagtgtt
     2521 atgaaagcca ccagactcag ccagtgtgtc cccatgggta tccccagcca tccttgctca
     2581 atccattact tatatactaa ctacataatg acctgttcaa accagactct atttaatgaa
     2641 ctgtgaattt acacagaggc cattttaaat gggtcacccc atttaggatt agtggatctc
     2701 aaattattaa ccaaacatca ctccatttca aagtaaaata ttccaccagc gatttgattt
     2761 attggctctt ccattgccac tgagcaatgc ccaggaagca ggcacattgc caaggactgg
     2821 gggcatcttg actaggaagc tcctcgtttg tgtgagcgtg ggtcagaccg ccaaagtagg
     2881 acttcatcgt ttacctacct attatcaata tggtgcttga atatattcct ataactgtag
     2941 aacagtgtgg aaagtgatgg taactttgaa gttgttcatg ttttattggc tttgttttaa
     3001 ttgacactag tagagtttta atggtctttg tgtaaatttt aatggctttt ccattgtttt
     3061 tgcttctctt aaaaagttta agaagaatat gacctcatta aatgtgctgt tttatttgga
     3121 ccagtcacac aaaatgtctc tctagagttg actttaaagt tgtttacaga aatttaaact
     3181 caattccaga gattgaagtt gtccaaacag ctcatgggct tagtgtccaa acccctgccc
     3241 agccttccct ttccaagttg gtgccacctc caggtagcca ttggtggttt tcctattact
     3301 gatgtggctg tggaatgata aggtcctaga ggggccctgg catttcagga agcggacctg
     3361 gtattccctg acaaacattg cttaggaaag agggccggag aataagaagc cagcacctca
     3421 tcagtcagcc ctgcaatgtg agacttccgt agctgttgag agtcactgca ggtgttcttt
     3481 catcccatct gattttaacc catggttgag acgttccaag ttagatctgc tgctcttagg
     3541 tgtggggctg tccacattag ggaacttgcc tcaaaaacag tccacagtgg caataccgga
     3601 cttctgttca agctttttaa agtgctgagc cttacaaacc cctgaaggaa agtgaccctt
     3661 taagagagga tcatcttttt ttatatttat tttcaccaaa tagggtgatg agggttggtt
     3721 tttgttccct caacccattt gggtaaaata acggatctga ttagaaactg ttttaaggag
     3781 gggctgggct cggtggctca cgcctgtaat cccagacttt gagaggccaa ggcggtcacg
     3841 aggtcaggag ttcgagacca gcctagccaa catggtgaaa ccccgtctct acaaaaaata
     3901 caaaaattag ccgggtggga cacgcctgta atcccagcta ctcaagaggc tgaggcagga
     3961 gaatagcttg aacccgggag gcagaggttg cagtgagccg agatcacacc actgcactcc
     4021 agcctgggtg acagagcgag gctccgtctc aaaaaaaaaa aaaaaaaatt gttttagcgc
     4081 tgggtttccc aaggtgggag agacagaccc agcctggagc tggcccctgg cctgtgtgct
     4141 gacttcttgg ggtcctcaaa ccactgtatt tttctgttga gcctgtactt ggggagagat
     4201 cagtagcatt tgaggaagta agagaaaaga atcatggtac ctcagggttt ctttcccttt
     4261 actcgctggc agccattgtc tgtgggcacc tcatgttttt ccacactcta ctgggccgtg
     4321 gaggtaacga tcacccaggc cagtctcctc tgcctgggat gcgccctctg agaggaggcc
     4381 tagcagggca ggctccctct gggcatccct ggatgcagcc tctggacaca tgcctccttt
     4441 aaagtgtccg ggtgcagctc aggttgagtg gaggtagaag gagaaacaga catgtttacc
     4501 acgcgttttc caaagctcct gatctttccc aagattgtaa ctgaaaactg ctgtctcttg
     4561 ttttgttcgt tttgggggtg gtggtgctgg ctgggccatg cttgtgaagt gatgtgtgtc
     4621 tctgatttaa cggattcact gttttctctg ctaattgaga gagcgttatt tacattattt
     4681 atttgttttg acacaagtgc tttcagtgtt ttatcctagc taatggcttc ttaaaggtaa
     4741 taaaaccctt ccaacgtaat tggtcagata aaactttttt tcttgtatgc ttaaataaag
     4801 caattagtga agcacttcta tccaaaatga cttttttgtc cttttttaaa accaatttac
     4861 tgttactgga aactttttgt acaataaagc aatcacgcag attaaagaac atcctgcaat
     4921 cctagtatta attttaa
//
LOCUS       NM_001001436            6845 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens chromosome 16 open reading frame 87 (C16orf87),
            transcript variant 1, mRNA.
ACCESSION   NM_001001436
VERSION     NM_001001436.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6845)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 6845)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 6845)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 6845)
  AUTHORS   Joshi P, Greco TM, Guise AJ, Luo Y, Yu F, Nesvizhskii AI and Cristea
            IM.
  TITLE     The functional interactome landscape of the human histone
            deacetylase family
  JOURNAL   Mol Syst Biol 9, 672 (2013)
   PUBMED   23752268
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.300646.1,
            SRR1660805.58567.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMN03267769 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000285697.9/ ENSP00000285697.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007225.2, BC056676.1 and BX647945.1.
            On Nov 23, 2018 this sequence version replaced NM_001001436.3.
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6845
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q11.2"
     gene            1..6845
                     /gene="C16orf87"
                     /note="chromosome 16 open reading frame 87"
                     /db_xref="GeneID:388272"
                     /db_xref="HGNC:HGNC:33754"
     CDS             32..496
                     /gene="C16orf87"
                     /note="isoform 1 is encoded by transcript variant 1;
                     UPF0547 protein C16orf87"
                     /codon_start=1
                     /product="UPF0547 protein C16orf87 isoform 1"
                     /protein_id="NP_001001436.1"
                     /db_xref="CCDS:CCDS10724.1"
                     /db_xref="GeneID:388272"
                     /db_xref="HGNC:HGNC:33754"
                     /translation="MSATRAKKVKMATKSCPECDQQVPVACKSCPCGYIFISRKLLNAK
                     HSEKSPPSTENKHEAKRRRTERVRREKINSTVNKDLENRKRSRSNSHSDHIRRGRGRPK
                     SASAKKHEEEREKQEKEIDIYANLSDEKAFVFSVALAEINRKIINQRLIL"
     misc_feature    158..388
                     /gene="C16orf87"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PH81.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    302..304
                     /gene="C16orf87"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q6PH81.1); phosphorylation site"
     regulatory      1381..1386
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C16orf87"
                     /note="hexamer: AATAAA"
     polyA_site      1404
                     /gene="C16orf87"
                     /note="major polyA site"
     regulatory      1409..1414
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C16orf87"
                     /note="hexamer: ATTAAA"
     polyA_site      1427
                     /gene="C16orf87"
     regulatory      6740..6745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C16orf87"
                     /note="hexamer: AATAAA"
     polyA_site      6763
                     /gene="C16orf87"
     regulatory      6823..6828
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C16orf87"
                     /note="hexamer: AGTAAA"
     polyA_site      6845
                     /gene="C16orf87"
ORIGIN
        1 gtcgctgctg ccgccgctaa gggagaggag catgtctgca actcgagcca agaaagtgaa
       61 gatggccacc aaatcatgcc ccgagtgcga ccaacaggtt cctgttgcat gtaaatcatg
      121 tccttgtggt tacatattta ttagcagaaa acttttaaat gcaaaacact cagagaaatc
      181 accaccttct acagaaaaca agcatgaggc caagaggagg cgaacagaga gagttaggag
      241 agagaagata aattctacag taaataaaga tttagaaaac agaaagaggt ctcgaagtaa
      301 cagccattca gatcatatca gacgaggaag aggaagacct aaaagtgcat ctgccaaaaa
      361 acatgaggaa gaaagagaga aacaggaaaa ggaaattgac atctatgcta acctgtctga
      421 tgaaaaggct ttcgtgtttt cagtcgcctt ggcagaaata aatagaaaaa ttatcaatca
      481 aagacttatt ctctgatact tgtttgcaaa atctgctgaa acttctgtca ggataacatc
      541 agcaaattct caaacagtta tggactctca ggagcattct gactgcatca ataagggcca
      601 tcgattgttt ctttctcgcc tgtcgtttag cctgtgccac acttcgggag caaagctgtg
      661 taggcttgga ctgttctggg atttccttgt ttaccaagga gtattgtcag tgttttgtgt
      721 ttgggatata agtaagtgta tttgccaaca acaaaaaaaa accaacaaaa atgctggatg
      781 gatgttaaag gataaaaagt gatggggtat ggggtaggta tgaaaactag ggtaataaga
      841 tgcttgattg ttttcaggtt tgccaccaga gatgcaatat tttaaatact gtcagaaaga
      901 gtgattttta aaaatatata tttcagattt tcagtgctaa cagattgcat atatacagtt
      961 catttacttt tattaaattg gcaatcgata ttttattgaa tggggaatta agaatataaa
     1021 ctgtaaattt tgtcttaaat tgattttttt tcttggcctt tatttttatt acttaaggta
     1081 tgagttatat tttaggagat actttctaga cagtttgaag tttgggtgct atatgaagaa
     1141 aaacatttaa tgatatactc agatataaac accttgtttt cttgaatgta atttatttat
     1201 tagctaaaaa aaaaaaacaa actgctctca agatggtgcc tgttaaccta aacatgaaat
     1261 atatttatta catgcaaaat atttcttagc cacttttaag cagtaatgtt ttatctgaat
     1321 ggatatttgt ttctatatcc tgataattat ttaaattgtt actttcaatc tggaagaaaa
     1381 aataaacctt aatattgaaa ctaagtagat taaatagtgt gataaaagtt ttttgttctg
     1441 gtgaagtttg tgaaatatat ttaaattctt aatttttcta gtgttaagtc ataatcgttt
     1501 atagttgatt tatattaaat gcttttgcat tttggcatat caatttaatg attaacatat
     1561 tcaaacttgg taatcactcc ccttattttc agtcgctctt cccccaatct gtttagaaat
     1621 ccttttaaag ccttcttaca gaagatagtc atcagttaga tttagccccc ttttaagaga
     1681 atctcccttt caattttagc cgtaacatta tcaatttcag acttcatcct gcatctccca
     1741 tcacctcctc aaagaaaaaa ggtcaacatt ttttcctact ttatttaaat ggtaaccagc
     1801 agagggagct taagaggtac tctagatagg ataaagaatt ttcctaagga ttccttttcc
     1861 tttaatccct gtatctatct gcaggtacta ctgcaactat tttgtatgca ttttatttat
     1921 ttatttagga gacagagtct tgctcggtcg cccaggctgg agtgcagtgg cactgtctca
     1981 gctcactgca acctctgcct cctgggttca agtgattctt atgcctcagc ctcctgagta
     2041 gctgtgacta gaggcgtgcg ccaccacgcc tggctgtttt tttttttgta ttttttagta
     2101 cagatggggt ctcagcatgt tggccaggct ggtctcaaat tcctggcctt aggtgatctg
     2161 cccgccttgg cctcccaaag tgctgggatt acaggcatga gccactgcac tcagccttgt
     2221 gtgcgtttta gagtcttaac tagtagtttc cccaataatg taatgtgatt ttatctttga
     2281 aacatactgt aaggaaactt ttgattttaa gtaaaaaagc ttaaaaatga ttaatatcta
     2341 aaaatgcttg tatacatata tatgtcctca gaaaaagcaa gaacagcttg tggaataagc
     2401 acgtctttaa ggaattatcg atgtcagagt ctatccattt aaagctgaag accattacag
     2461 gaaagtcatg ttaaaatatt cattggatat ggtaaaggag gtactggtgg ctgggctgga
     2521 gcttgccgta tagaaaagta attacttcag atctcataat gttaaattat tggcttattt
     2581 aaaaatttcc gtggcagaga ggcaaattag gtttcctctg tgacataacc tatttaacca
     2641 atttttcaaa aaattgtact ctatgagctt tcttgttata aagctaaaaa atttaatttg
     2701 tctaggcatg ttgtaatggt cccagaaaat attactttgt cactggtgtc agagaaacct
     2761 ctgtcatcag cagatgtcct aagagtataa ttatagttct ttacttaatc caaaatttgt
     2821 tctgctctga tatctataaa tgatatgatt attcaaaata ccttgaaatg attccacaat
     2881 tagattaggt ctgttgaaga taacttattc ttaaatatga gtaagattaa ataaaagtag
     2941 tttgagagtt gttactccct gcctcaactc catggtattc caaaatgttt ttgtgggcac
     3001 tttaatactt gtagtttgat tttgtttgtt agttttagaa atgaacattt cttagatttt
     3061 catgggtatt ttttggctgt atttaaatgt aaatgatata aaagtaaggg aaattgtgca
     3121 aattatttct tgtgtagtaa tcagtggaag tgatcaaaca gcttgaagca gtttatgatg
     3181 agaaaattta aaattgcaaa tgacctgaaa atttagccag tctattctta tttctttaaa
     3241 tttcagaaat acttaagaaa aaaaaaaaaa aggtcagtat gacctctgag ttgcttccta
     3301 aaagtaatca gatagtgttc tccctcagat aagatttcaa attgaaaagt atttgacttc
     3361 tttaactcta gtaattgcac ttgattctct aattctgatc attaaaatga cttggcaata
     3421 tttaattttg gcttgccttt caatctgcat gtttgtctta aatttagaaa aattaagctc
     3481 tttacttact tttatataaa gtattaattg gccaggcatg gtggcttaca cctgtaatcc
     3541 caacactttg ggaggccaag gcaggagagt tgtttgaagc caggagtttg agaccagcct
     3601 gggcaacatg atgagaccgc gtctctacaa aaagtaaaat tagctgggtg tggtgcttcc
     3661 agctactagg cagctgaggc taaaggatca cttgagccca ggagttcgag gctgcagtga
     3721 gtgatgatct tgccactgca ctccagcctg ggaggcagag caagaaacac cctgtgtgaa
     3781 aaaagtattg aatttgtttg attccacttt caaaatatgc tctagataca ggtagtcatt
     3841 ctgccaaatt gtgttcttct ctaaaacatt ttgtccgtca ttctttgaaa ctcattctta
     3901 attatttcca ctttaccttc tagtttggtt tgatgcctta tattcttgct agttaaaagc
     3961 attttttccc tagtattttc tgtctttcta gcctttaagg catattgttg ttaacaaatc
     4021 tcttatttaa gttaattaaa gttttttctg tgcagctggg ttttttcttt tactacatga
     4081 caagcttcat ttttacattt ggaagtacat gtatatatgt ttatatattt ttattctcag
     4141 gatctatttt ctagggaact atttttttaa attattcttt tgtgctgcct taacccattt
     4201 attatagttt gaatattagt agtacttact actcaaagat tacaactata ctaataacta
     4261 tcctaacata caaagcagac tctccaggat taaaagtatg agacatataa cagagtctgg
     4321 aatagaataa ttctttttac cccagtcaag tatttgcctt ttgcattatt aaggaatctg
     4381 ttttgttctt ttattgataa tttctatatt tttttctttg ccttattgca ctggttggga
     4441 ctttttgcct tgatccagtt gtagggggga aacattcagt cattaagcat taaataactt
     4501 tgttgttgtt gtgggcttga aaaaataccc tttagtagat tgagggtaga ctcttttatt
     4561 tctgcttgtt ggaagttttc tgtcaggaac agatgttgaa ttttgtcaga tgctttttct
     4621 gcataattga taggaccttt tttctcccct ttagaatgtt catatggtga aacatactga
     4681 tagcttttct tttctttttt ttttgacacg gagtctcact ctgtcaccca ggctggagtg
     4741 caatggtgcg atcttggctc actgcaccct ctgcctcttg ggttcaagct tccctcacca
     4801 gcctcccaag tacctgggta tacaggtgtg catcaccatg cccggctaat ttttgaattt
     4861 ttagtagaga taggttttta ccatgttggc caggctggtc ttcaactcct gactcagcct
     4921 cccaaagtgt tgggattaca gtctcgctct gtcgcccagg ctggagggca gtggtgtgat
     4981 cttggctcaa tgcaaccttg caacctctgc ctcccgagtt caagcgattc tcctgcctta
     5041 gcctcctgag tagctggaat tacaggcgca cgccactaca cccagcttct ttttgtattt
     5101 ttagtagaga tggagtttca ccatgttggc caagctggtc tcgaactcct gagctccggt
     5161 gatccacccg cctttacagg catgagccac cgtgcccggc tgcatttctc ttttgtaaga
     5221 acctgctctg gtttattgat attttgctgt ttttctgttt taagtttcat taatttctga
     5281 tctttagtat tttctccttt ctttgctttg ggcttatttg ctcccttttc tagcttattg
     5341 tggcggaagc tcagatcatt gattttaaaa tttacttatt tatttattta tttatttaat
     5401 tcaacactga tcagaaggct ttttgtgctt ttctaaaaaa agcatttaat gctataaatt
     5461 tcccatttgc tttatctcac aaattttatt gtgttgtaat tttgtgttca atttagaata
     5521 ttctgatttt tcttggtatt actataattt tcaaatattt agagtttttt tcagttatct
     5581 ttctgttact gattgtaatt tattgttttt taaaattata gttctttgaa tagttttgca
     5641 gtatttgctc tagggattac tataaacata cttcactttt tacagttcac ttagaagtca
     5701 atattttacc agttcaagtg gaatgtagaa aaatcttacc actgtttaca ttcctttacc
     5761 ctctcccctt tatgttataa ttttcttata aatcataaga cttggctggg cacagtggct
     5821 cacctgtaat cccaggactg ggaggccgag gcgagcagat tgcttaagtc caggagttcg
     5881 agaccagcct ggacaatgtg gtgaaacccc aactctacaa aaaatacaca aaattagcta
     5941 ggcgtggtag catgttcctg tagtcccagc tactcaggag gctgaagtgg gaggattact
     6001 tgagcccagg aggcagaggt tgcagtgagc caagatcact ccactccact ccagcctgag
     6061 tgacagagct agacactgtg tctcaaaaaa taaaaataaa aaataagact catcagataa
     6121 tgtatttttt ccttacaact atcatagata tttttaagaa cccaagagga aaacagtcta
     6181 tcacatttac cacaatattt atcatttgta ttaatcttcc ttaattcttg atgttccaag
     6241 tttacatagg tatcagtcct tttcatctgg aaaatttctt ttagtgcagg tctgttgaca
     6301 tttaattctc ttattttttc ttcatctgag aatgtcttta ttttgcctta attcatgaaa
     6361 gatatttttg ctggatataa actactgtgt tgacagttct ttcagcctcc atggtttctg
     6421 atgagaaatg tgcagccatt aaagtaatat ttcccctgta tgaaacatgt tatttttctc
     6481 tgagtatttt caggaatctt tgtctttggt ttttattggt ttgattatga tgtgcccggg
     6541 tgtttgaatt tattctcttt gggatttgtt gagcttaaat gtgtaagttt atgcctttca
     6601 tcagattatg taaagtttta aaccattcag atattttctg ctctactttc tcctccctct
     6661 taggctccag tgatgcaagt gttagactct ttggtattat ctcacagatc tcagaacctc
     6721 tgttcattta ttttatttta ataaatcatt tcagttaaca aaatcatata ttgtatgcag
     6781 catgatgttt caatatgtat gttcacattg taggatgtct aaagtaaaga taatgaacat
     6841 atgca
//
LOCUS       NM_001001437             784 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens C-C motif chemokine ligand 3 like 3 (CCL3L3), mRNA.
ACCESSION   NM_001001437
VERSION     NM_001001437.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 784)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 784)
  AUTHORS   Shrestha S, Nyaku M and Edberg JC.
  TITLE     Variations in CCL3L gene cluster sequence and non-specific gene copy
            numbers
  JOURNAL   BMC Res Notes 3, 74 (2010)
   PUBMED   20233400
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 784)
  AUTHORS   Ryu OH, Choi SJ, Firatli E, Choi SW, Hart PS, Shen RF, Wang G, Wu WW
            and Hart TC.
  TITLE     Proteolysis of macrophage inflammatory protein-1alpha isoforms
            LD78beta and LD78alpha by neutrophil-derived serine proteases
  JOURNAL   J Biol Chem 280 (17), 17415-17421 (2005)
   PUBMED   15728180
  REMARK    GeneRIF: severe periodontal tissue destruction in Papillon-Lefevre
            syndrome may be related to excess accumulation of LD78beta and
            LD78alpha and dysregulation of the microbial-induced inflammatory
            response in the periodontium
REFERENCE   4  (bases 1 to 784)
  AUTHORS   Bonecchi R, Locati M, Galliera E, Vulcano M, Sironi M, Fra AM, Gobbi
            M, Vecchi A, Sozzani S, Haribabu B, Van Damme J and Mantovani A.
  TITLE     Differential recognition and scavenging of native and truncated
            macrophage-derived chemokine (macrophage-derived chemokine/CC
            chemokine ligand 22) by the D6 decoy receptor
  JOURNAL   J Immunol 172 (8), 4972-4976 (2004)
   PUBMED   15067078
REFERENCE   5  (bases 1 to 784)
  AUTHORS   Naruse K, Ueno M, Satoh T, Nomiyama H, Tei H, Takeda M, Ledbetter
            DH, Coillie EV, Opdenakker G, Gunge N, Sakaki Y, Iio M and Miura R.
  TITLE     A YAC contig of the human CC chemokine genes clustered on chromosome
            17q11.2
  JOURNAL   Genomics 34 (2), 236-240 (1996)
   PUBMED   8661057
REFERENCE   6  (bases 1 to 784)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH,
            Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   7  (bases 1 to 784)
  AUTHORS   Hirashima M, Ono T, Nakao M, Nishi H, Kimura A, Nomiyama H, Hamada
            F, Yoshida MC and Shimada K.
  TITLE     Nucleotide sequence of the third cytokine LD78 gene and mapping of
            all three LD78 gene loci to human chromosome 17
  JOURNAL   DNA Seq 3 (4), 203-212 (1992)
   PUBMED   1296815
REFERENCE   8  (bases 1 to 784)
  AUTHORS   Blum S, Forsdyke RE and Forsdyke DR.
  TITLE     Three human homologs of a murine gene encoding an inhibitor of stem
            cell proliferation
  JOURNAL   DNA Cell Biol 9 (8), 589-602 (1990)
   PUBMED   2271120
REFERENCE   9  (bases 1 to 784)
  AUTHORS   Nakao M, Nomiyama H and Shimada K.
  TITLE     Structures of human genes coding for cytokine LD78 and their
            expression
  JOURNAL   Mol Cell Biol 10 (7), 3646-3658 (1990)
   PUBMED   1694014
REFERENCE   10  (bases 1 to 784)
  AUTHORS   Irving SG, Zipfel PF, Balke J, McBride OW, Morton CC, Burd PR,
            Siebenlist U and Kelly K.
  TITLE     Two inflammatory mediator cytokine genes are closely linked and
            variably amplified on chromosome 17q
  JOURNAL   Nucleic Acids Res 18 (11), 3261-3270 (1990)
   PUBMED   1972563
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC007783.2, SRR1163657.51183.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2163105
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000619989.1/ ENSP00000480558.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC243829.3, AA380745.1,
            BC007783.2 and CF128666.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001001437.3.
            Summary: This gene is one of several cytokine genes that are
            clustered on the q-arm of chromosome 17. Cytokines are a family of
            secreted proteins that function in inflammatory and
            immunoregulatory processes. The protein encoded by this gene binds
            to several chemokine receptors, including chemokine binding protein
            2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a
            co-receptor for HIV, and binding of this protein to CCR5 inhibits
            HIV entry. The copy number of this gene varies among individuals,
            where most individuals have one to six copies, and a minority of
            individuals have zero or more than six copies. There are
            conflicting reports about copy number variation of this gene and
            its correlation to disease susceptibility.[provided by RefSeq, Apr
            2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..784
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..784
                     /gene="CCL3L3"
                     /gene_synonym="464.2; D17S1718; G0S19-2; LD78; LD78BETA;
                     SCYA3L; SCYA3L1"
                     /note="C-C motif chemokine ligand 3 like 3"
                     /db_xref="GeneID:414062"
                     /db_xref="HGNC:HGNC:30554"
                     /db_xref="MIM:609468"
     CDS             86..367
                     /gene="CCL3L3"
                     /gene_synonym="464.2; D17S1718; G0S19-2; LD78; LD78BETA;
                     SCYA3L; SCYA3L1"
                     /note="chemokine (C-C motif) ligand 3-like, centromeric;
                     small inducible cytokine A3-like 1; LD78-beta(1-70); G0/G1
                     switch regulatory protein 19-2; tonsillar lymphocyte LD78
                     beta protein; chemokine (C-C motif) ligand 3-like 3"
                     /codon_start=1
                     /product="C-C motif chemokine 3-like 1 precursor"
                     /protein_id="NP_001001437.2"
                     /db_xref="CCDS:CCDS32626.1"
                     /db_xref="GeneID:414062"
                     /db_xref="HGNC:HGNC:30554"
                     /db_xref="MIM:609468"
                     /translation="MQVSTAALAVLLCTMALCNQVLSAPLAADTPTACCFSYTSRQIPQ
                     NFIADYFETSSQCSKPSVIFLTKRGRQVCADPSEEWVQKYVSDLELSA"
     sig_peptide     86..154
                     /gene="CCL3L3"
                     /gene_synonym="464.2; D17S1718; G0S19-2; LD78; LD78BETA;
                     SCYA3L; SCYA3L1"
                     /note="/evidence=ECO:0000269|PubMed:15340161; propagated
                     from UniProtKB/Swiss-Prot (P16619.1)"
     mat_peptide     155..364
                     /gene="CCL3L3"
                     /gene_synonym="464.2; D17S1718; G0S19-2; LD78; LD78BETA;
                     SCYA3L; SCYA3L1"
                     /product="C-C motif chemokine 3-like 1. /id=PRO_0000005161"
                     /note="propagated from UniProtKB/Swiss-Prot (P16619.1)"
     misc_feature    158..163
                     /gene="CCL3L3"
                     /gene_synonym="464.2; D17S1718; G0S19-2; LD78; LD78BETA;
                     SCYA3L; SCYA3L1"
                     /note="Cleavage, by DPP4. /evidence=ECO:0000305; propagated
                     from UniProtKB/Swiss-Prot (P16619.1); cleavage site"
     mat_peptide     161..364
                     /gene="CCL3L3"
                     /gene_synonym="464.2; D17S1718; G0S19-2; LD78; LD78BETA;
                     SCYA3L; SCYA3L1"
                     /product="LD78-beta(3-70). /id=PRO_0000005162"
                     /note="propagated from UniProtKB/Swiss-Prot (P16619.1)"
     mat_peptide     167..364
                     /gene="CCL3L3"
                     /gene_synonym="464.2; D17S1718; G0S19-2; LD78; LD78BETA;
                     SCYA3L; SCYA3L1"
                     /product="LD78-beta(5-70). /id=PRO_0000005163"
                     /note="propagated from UniProtKB/Swiss-Prot (P16619.1)"
     regulatory      758..763
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCL3L3"
                     /gene_synonym="464.2; D17S1718; G0S19-2; LD78; LD78BETA;
                     SCYA3L; SCYA3L1"
                     /note="hexamer: AATAAA"
     polyA_site      784
                     /gene="CCL3L3"
                     /gene_synonym="464.2; D17S1718; G0S19-2; LD78; LD78BETA;
                     SCYA3L; SCYA3L1"
                     /note="major polyA site"
ORIGIN
        1 agaaggacgc aggcagcaaa gagtagtcag tcccttcttg gctctgctga cactcgagcc
       61 cacattccat cacctgctcc caatcatgca ggtctccact gctgcccttg ccgtcctcct
      121 ctgcaccatg gctctctgca accaggtcct ctctgcacca cttgctgctg acacgccgac
      181 cgcctgctgc ttcagctaca cctcccgaca gattccacag aatttcatag ctgactactt
      241 tgagacgagc agccagtgct ccaagcccag tgtcatcttc ctaaccaaga gaggccggca
      301 ggtctgtgct gaccccagtg aggagtgggt ccagaaatac gtcagtgacc tggagctgag
      361 tgcctgaggg gtccagaagc ttcgaggccc agcgacctca gtgggcccag tggggaggag
      421 caggagcctg agccttggga acatgcgtgt gacctccaca gctacctctt ctatggactg
      481 gttattgcca aacagccaca ctgtgggact cttcttaact taaattttaa tttatttata
      541 ctatttagtt tttataattt atttttgatt tcacagtgtg tttgtgattg tttgctctga
      601 gagttccccc tgtcccctcc accttccctc acagtgtgtc tggtgacaac cgagtggctg
      661 tcatcggcct gtgtaggcag tcatggcacc aaagccacca gactgacaaa tgtgtatcag
      721 atgcttttgt tcagggctgt gatcggcctg gggaaataat aaagatgttc ttttaaacgg
      781 taaa
//
LOCUS       NM_001001479            2585 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens solute carrier family 35 member E4 (SLC35E4),
            transcript variant 1, mRNA.
ACCESSION   NM_001001479
VERSION     NM_001001479.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2585)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2585)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC040191.1, SRR1803614.181515.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000343605.5/ ENSP00000339626.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005006.2 and BC040191.1.
            On Nov 23, 2018 this sequence version replaced NM_001001479.3.
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2585
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..2585
                     /gene="SLC35E4"
                     /note="solute carrier family 35 member E4"
                     /db_xref="GeneID:339665"
                     /db_xref="HGNC:HGNC:17058"
     misc_feature    587..589
                     /gene="SLC35E4"
                     /note="upstream in-frame stop codon"
     CDS             671..1723
                     /gene="SLC35E4"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="solute carrier family 35 member E4 isoform 1"
                     /protein_id="NP_001001479.1"
                     /db_xref="CCDS:CCDS13882.1"
                     /db_xref="GeneID:339665"
                     /db_xref="HGNC:HGNC:17058"
                     /translation="MCRCPPEHHDGRMTSAEVGAAAGGAQAAGPPEWPPGSPQALRQPG
                     RARVAMAALVWLLAGASMSSLNKWIFTVHGFGRPLLLSALHMLVAALACHRGARRPMPG
                     GTRCRVLLLSLTFGTSMACGNVGLRAVPLDLAQLVTTTTPLFTLALSALLLGRRHHPLQ
                     LAAMGPLCLGAACSLAGEFRTPPTGCGFLLAATCLRGLKSVQQSALLQEERLDAVTLLY
                     ATSLPSFCLLAGAALVLEAGVAPPPTAGDSRLWACILLSCLLSVLYNLASFSLLALTSA
                     LTVHVLGNLTVVGNLILSRLLFGSRLSALSYVGIALTLSGMFLYHNCEFVASWAARRGL
                     WRRDQPSKGL"
     misc_feature    725..796
                     /gene="SLC35E4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ICL7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    821..883
                     /gene="SLC35E4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ICL7.1);
                     transmembrane region"
     misc_feature    887..949
                     /gene="SLC35E4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ICL7.1);
                     transmembrane region"
     misc_feature    998..1066
                     /gene="SLC35E4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ICL7.1);
                     transmembrane region"
     misc_feature    1073..1135
                     /gene="SLC35E4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ICL7.1);
                     transmembrane region"
     misc_feature    1322..1384
                     /gene="SLC35E4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ICL7.1);
                     transmembrane region"
     misc_feature    1442..1504
                     /gene="SLC35E4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ICL7.1);
                     transmembrane region"
     misc_feature    1505..1567
                     /gene="SLC35E4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ICL7.1);
                     transmembrane region"
     misc_feature    1604..1666
                     /gene="SLC35E4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ICL7.1);
                     transmembrane region"
     regulatory      2565..2570
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC35E4"
                     /note="hexamer: AATACA"
     polyA_site      2585
                     /gene="SLC35E4"
                     /note="major polyA site"
ORIGIN
        1 gtgagtcgca gcaggagccg cagccggagt cacagccgca gccagagccg cagccaaagc
       61 ctcagagagc aggagttgga gcgcaggccc tgctggatcc gcgcctagct cgccgccagg
      121 caccggccgg aggacgggcc gtggtgtcag ctcactgccc gggcgctgtg ggaggcagcg
      181 agcccgcgac cccccgggcc gggcaccgcc aggcgcggag cccagatcgc ccccctgcca
      241 ggcctggtca cggccagagc acgcaggagt tcccagggtc tggatctgcg cgcaccctaa
      301 tgacctgggg actgaagaga aaaaaggaac gaggatttca tctaaaagca taacgtgggc
      361 actaggcgag gaggaaagtg gagaccacct ggcacggggc agaggtgcct ggagcccacg
      421 cttgagcatc ggagaccctg gcatcctagc agccgcgacc ttggctctgc cctgtctgag
      481 ctggaaacac agcttagctt ctagacatcg ctggcacagg cctggcacaa gtaagcagtg
      541 tcctcacctg tctgaaacgg gacacggggt cggaggaacc aggatctagc ctggccccaa
      601 gcggaactct ctggtggccc agaggtcgtc actggggagc ccgcctcctg ccctagcctc
      661 actggtgcgg atgtgccgct gcccgccgga gcaccatgat ggcaggatga cctcagccga
      721 agtaggagca gcagctggtg gtgctcaggc ggctgggccc cccgagtggc cccctggcag
      781 ccctcaggcc ctccggcagc ctggccgggc ccgagtggcc atggcagcac tggtgtggct
      841 gctggcggga gccagcatgt caagcctcaa caagtggatc ttcacagtgc acggctttgg
      901 gcggcccctg ctgctgtcgg ccctgcacat gctggtggca gccctggcat gccaccgggg
      961 ggcacggcgc cccatgccag gcggcactcg ctgccgagtc ctactgctca gtctcacctt
     1021 tggcacgtcc atggcctgcg gcaacgtggg cctaagggct gtgcccctgg acctggcaca
     1081 actggttact accaccacac ctctgttcac cctggccctg tcggcgctgc tgctgggccg
     1141 ccgccaccac ccacttcagt tggccgccat gggtccgctc tgcctggggg ccgcctgcag
     1201 cctggctgga gagttccgga caccccctac cggctgtggc ttcctgctcg cagccacctg
     1261 cctccgcgga ctcaagtcgg ttcagcaaag tgccctgctg caggaggaga ggctggacgc
     1321 ggtgaccctg ctttacgcca cctcgctgcc cagcttctgc ctgctggcgg gtgcagccct
     1381 ggtgctggag gctggcgttg ccccaccgcc cactgctggc gactctcgcc tctgggcctg
     1441 catcctgctc agctgcctcc tgtctgttct ctataacctg gccagcttct ccctgctggc
     1501 cctcacctct gccctcaccg tccacgtcct gggcaacctc accgtggtgg gcaacctcat
     1561 cctgtcccgg ctgttgtttg gcagccgcct cagtgccctc agctacgtgg gcatcgcact
     1621 cactctttca ggaatgttcc tttaccacaa ctgcgagttc gtggcctcct gggctgcccg
     1681 tcgggggctg tggcggaggg accagcccag caagggtctt tgagacctgg gggatctcag
     1741 gagccacctg ggatggccct ggcctgaatc cagcctccgc tgtggccata gaaggaatgg
     1801 agaacagggc tgggcatggt ggctcacgcc tataatccca gcacttccag agtccgaggt
     1861 gggtggatca cctgaggcca ggagttcgag accagcctgg ctaacatggc aaaacctcat
     1921 ctctactaaa aatagaaaaa ttagctgggc atggtggcgc gtgcctatag tcccagctac
     1981 atgggaggct aaggtgggag gatcacttga gccctggaga tcgaggctgc agtaagccaa
     2041 gatcgcatgc tactgcactc cagcctggga gacagagcga gacgctgtct caattaaaaa
     2101 aaaaaaaaag tggagaactg gcagtgacct ctactggggg ccatggcagg gaggggagcc
     2161 ttctggaagg gctgccttgg agattggaat ggggactccc agggagacct gcgttccatc
     2221 cctgcctgcc tcacccctgc cacagactct gcacaccact ggatggtggg tccaagcctg
     2281 gcacagtccc tgtgcttgtc agagtcatta ttatgattaa tatcaattac gatgccaaaa
     2341 attgctgggc aaactttgaa gacctcaact tgttacaatg acgatgatga tgattcttgg
     2401 cggttacaca atccttcctc ctggggggga ggcagctagg aggcccagca ggggggcttc
     2461 tatgctgctg ggctccccta gggagttggg gtagtctgtg ccaactccag gcagctgctg
     2521 tggcctcacc cctgggcccc ccaattttgg gtcatccatc ctcaaataca ctatttttgc
     2581 ttgta
//
LOCUS       NM_001001480            1156 bp    mRNA    linear   PRI 25-JUL-2022
DEFINITION  Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.
ACCESSION   NM_001001480
VERSION     NM_001001480.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1156)
  AUTHORS   Wang Y and Tatakis DN.
  TITLE     Human gingiva transcriptome during wound healing
  JOURNAL   J Clin Periodontol 44 (4), 394-402 (2017)
   PUBMED   28005267
  REMARK    GeneRIF: KRTAP5-5 expression is significantly downregulated in human
            masticatory mucosa during wound healing
REFERENCE   2  (bases 1 to 1156)
  AUTHORS   Yahagi S, Shibuya K, Obayashi I, Masaki H, Kurata Y, Kudoh J and
            Shimizu N.
  TITLE     Identification of two novel clusters of ultrahigh-sulfur
            keratin-associated protein genes on human chromosome 11
  JOURNAL   Biochem Biophys Res Commun 318 (3), 655-664 (2004)
   PUBMED   15144888
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000399676.4/ ENSP00000382584.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP006285.2.
            On Sep 9, 2021 this sequence version replaced NM_001001480.2.
FEATURES             Location/Qualifiers
     source          1..1156
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..1156
                     /gene="KRTAP5-5"
                     /gene_synonym="KRTAP5-11; KRTAP5.5"
                     /note="keratin associated protein 5-5"
                     /db_xref="GeneID:439915"
                     /db_xref="HGNC:HGNC:23601"
     CDS             67..780
                     /gene="KRTAP5-5"
                     /gene_synonym="KRTAP5-11; KRTAP5.5"
                     /note="keratin associated protein 5-11; keratin-associated
                     protein 5.5; keratin-associated protein 5.11; ultrahigh
                     sulfur keratin-associated protein 5.5"
                     /codon_start=1
                     /product="keratin-associated protein 5-5"
                     /protein_id="NP_001001480.2"
                     /db_xref="CCDS:CCDS41592.1"
                     /db_xref="GeneID:439915"
                     /db_xref="HGNC:HGNC:23601"
                     /translation="MGCCGCSGGCGSGCGGRGSGCGGCGSGCGGCGSGCGGCGSGCGGC
                     GGCGSGCAGCGGCGSGCCVPVCCCKPMCCCVPACSCSSCGKGGCGSCGGSKRGCVSCGV
                     SKGACGSCGGSKGGCGSCGGSKGGCGSCGGSKGGCGSCGGSKGGCGSYGCSQSSCCKPC
                     CCSSGCGSSCCQSSCCKPYCCQSSCCKPYCCQSSCCKPCSCFSGCGSSCCQSSCYKPCC
                     CQSSCCVPVCCQCKI"
     misc_feature    250..756
                     /gene="KRTAP5-5"
                     /gene_synonym="KRTAP5-11; KRTAP5.5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q701N2.2);
                     Region: 8 X 4 AA repeats of C-C-X-P"
     regulatory      1136..1141
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRTAP5-5"
                     /gene_synonym="KRTAP5-11; KRTAP5.5"
                     /note="hexamer: AACAAA"
     polyA_site      1156
                     /gene="KRTAP5-5"
                     /gene_synonym="KRTAP5-11; KRTAP5.5"
                     /note="major polyA site"
ORIGIN
        1 ggctccacac ctgcacctcc ctctcacctg ctcctctacc tgctccaccc tcaatccacc
       61 agaaccatgg gctgctgtgg ctgctccgga ggctgtggct ccggctgtgg aggccgtggc
      121 tccggctgtg ggggctgtgg ctccggctgt ggaggctgtg gctctggctg tgggggctgt
      181 ggctccggct gtggaggctg tgggggctgt ggctccggct gtgcgggctg tgggggatgt
      241 ggctccggct gctgtgtgcc tgtctgctgc tgcaagccca tgtgctgctg tgtgccagct
      301 tgttcctgct ccagctgtgg caaagggggc tgtggctctt gcgggggctc caagagaggc
      361 tgtgtctcct gtggggtgtc caagggggcc tgtggctcct gtggggggtc caaggggggc
      421 tgtggctcct gtggggggtc caaggggggc tgtggctcct gtggggggtc caaggggggc
      481 tgtggctcct gtggggggtc caaggggggc tgtggttctt atggctgctc ccagtccagc
      541 tgctgcaagc cctgctgctg ctcctcaggc tgtgggtcat cctgctgcca gtccagctgc
      601 tgtaagcctt actgctgcca gtccagctgc tgtaagccct actgctgcca gtccagctgc
      661 tgtaagccct gtagctgctt ctcaggctgt ggatcatcct gctgccaatc cagctgctac
      721 aagccctgct gctgccagtc cagctgctgt gtccccgtgt gctgccagtg taagatctga
      781 ggctctgact gcagactgca ggtggcctga ctggtgaagg gcccggctgc ccagcttcct
      841 tgccctgggt tctctggtgc tccactgtct ccactgtgtc ctcactggct tcatccactc
      901 cacaccagtg ctcccgaaac tgactgagga ccccttctgg ctcattgcct actacttctc
      961 ctgaacttcc tctccctgct cctcactcat ttaagatcca aagcggccca ctgaggcccc
     1021 agaggcagat cagacccctt agaccctgac agctgctcct tctttcagga gtgtgatcga
     1081 ccctcaatct ctctggctgt ctgtatatca agactgaatc ctgaccctct aaataaacaa
     1141 agtctctaag cacaaa
//
LOCUS       NM_001001520            2267 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens HDGF like 2 (HDGFL2), transcript variant 1, mRNA.
ACCESSION   NM_001001520
VERSION     NM_001001520.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2267)
  AUTHORS   Wang J, Zhu X, Dang L, Jiang H, Xie Y, Li X, Guo J, Wang Y, Peng Z,
            Wang M, Wang J, Wang S, Li Q, Wang Y, Wang Q, Ye L, Zhang L and Liu
            Z.
  TITLE     Epigenomic reprogramming via HRP2-MINA dictates response to
            proteasome inhibitors in multiple myeloma with t(4;14) translocation
  JOURNAL   J Clin Invest 132 (4) (2022)
   PUBMED   35166240
  REMARK    GeneRIF: Epigenomic reprogramming via HRP2-MINA dictates response to
            proteasome inhibitors in multiple myeloma with t(4;14)
            translocation.
REFERENCE   2  (bases 1 to 2267)
  AUTHORS   Van Belle S, El Ashkar S, Cermakova K, Matthijssens F, Goossens S,
            Canella A, Hodges CH, Christ F, De Rijck J, Van Vlierberghe P,
            Veverka V and Debyser Z.
  TITLE     Unlike Its Paralog LEDGF/p75, HRP-2 Is Dispensable for MLL-R
            Leukemogenesis but Important for Leukemic Cell Survival
  JOURNAL   Cells 10 (1), 192 (2021)
   PUBMED   33477970
  REMARK    GeneRIF: Unlike Its Paralog LEDGF/p75, HRP-2 Is Dispensable for
            MLL-R Leukemogenesis but Important for Leukemic Cell Survival.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2267)
  AUTHORS   Zhu X, Lan B, Yi X, He C, Dang L, Zhou X, Lu Y, Sun Y, Liu Z, Bai X,
            Zhang K, Li B, Li MJ, Chen Y and Zhang L.
  TITLE     HRP2-DPF3a-BAF complex coordinates histone modification and
            chromatin remodeling to regulate myogenic gene transcription
  JOURNAL   Nucleic Acids Res 48 (12), 6563-6582 (2020)
   PUBMED   32459350
REFERENCE   4  (bases 1 to 2267)
  AUTHORS   LeRoy G, Oksuz O, Descostes N, Aoi Y, Ganai RA, Kara HO, Yu JR, Lee
            CH, Stafford J, Shilatifard A and Reinberg D.
  TITLE     LEDGF and HDGF2 relieve the nucleosome-induced barrier to
            transcription in differentiated cells
  JOURNAL   Sci Adv 5 (10), eaay3068 (2019)
   PUBMED   31616795
  REMARK    GeneRIF: LEDGF and HDGF2 colocalize with Histone H3 lysine 36
            methylation 2/3 at genomic regions containing active genes.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2267)
  AUTHORS   Baude A, Aaes TL, Zhai B, Al-Nakouzi N, Oo HZ, Daugaard M, Rohde M
            and Jaattela M.
  TITLE     Hepatoma-derived growth factor-related protein 2 promotes DNA repair
            by homologous recombination
  JOURNAL   Nucleic Acids Res 44 (5), 2214-2226 (2016)
   PUBMED   26721387
  REMARK    GeneRIF: HDGFRP2 promotes DNA repair by homologous recombination.
REFERENCE   6  (bases 1 to 2267)
  AUTHORS   Schrijvers R, Vets S, De Rijck J, Malani N, Bushman FD, Debyser Z
            and Gijsbers R.
  TITLE     HRP-2 determines HIV-1 integration site selection in LEDGF/p75
            depleted cells
  JOURNAL   Retrovirology 9, 84 (2012)
   PUBMED   23046603
  REMARK    GeneRIF: Authors show that HRP-2 functions as a co-factor of HIV-1
            IN in LEDGF/p75-depleted cells. Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2267)
  AUTHORS   Xiao K, McClatchy DB, Shukla AK, Zhao Y, Chen M, Shenoy SK, Yates JR
            3rd and Lefkowitz RJ.
  TITLE     Functional specialization of beta-arrestin interactions revealed by
            proteomic analysis
  JOURNAL   Proc Natl Acad Sci U S A 104 (29), 12011-12016 (2007)
   PUBMED   17620599
REFERENCE   8  (bases 1 to 2267)
  AUTHORS   Vandegraaff N, Devroe E, Turlure F, Silver PA and Engelman A.
  TITLE     Biochemical and genetic analyses of integrase-interacting proteins
            lens epithelium-derived growth factor (LEDGF)/p75 and
            hepatoma-derived growth factor related protein 2 (HRP2) in
            preintegration complex function and HIV-1 replication
  JOURNAL   Virology 346 (2), 415-426 (2006)
   PUBMED   16337983
  REMARK    GeneRIF: Here, we show that recombinant HDGF2 host cell factor
            efficiently reconstitutes the in vitro activity of HIV-1
            preintegration complexes.
REFERENCE   9  (bases 1 to 2267)
  AUTHORS   Cherepanov P, Devroe E, Silver PA and Engelman A.
  TITLE     Identification of an evolutionarily conserved domain in human lens
            epithelium-derived growth factor/transcriptional co-activator p75
            (LEDGF/p75) that binds HIV-1 integrase
  JOURNAL   J Biol Chem 279 (47), 48883-48892 (2004)
   PUBMED   15371438
REFERENCE   10  (bases 1 to 2267)
  AUTHORS   Izumoto Y, Kuroda T, Harada H, Kishimoto T and Nakamura H.
  TITLE     Hepatoma-derived growth factor belongs to a gene family in mice
            showing significant homology in the amino terminus
  JOURNAL   Biochem Biophys Res Commun 238 (1), 26-32 (1997)
   PUBMED   9299445
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.159326.1, AF294267.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000616600.5/ ENSP00000483345.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF294267.1.
            On Nov 23, 2018 this sequence version replaced NM_001001520.2.
            Summary: This gene encodes a member of the hepatoma-derived growth
            factor (HDGF) family. The protein includes an N-terminal PWWP
            domain that binds to methyl-lysine-containing histones, with
            specific binding of this protein to tri-methylated lysines 36 and
            79 of histone H3, and di- and tri-methylated lysine 20 of histone
            H4. The protein functions in LEDGF/p75-independent HIV-1
            replication by determining HIV-1 integration site selection.
            Alternative splicing of this gene results in multiple transcript
            variants. [provided by RefSeq, Apr 2014].
            Transcript Variant: This variant (1) encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2267
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..2267
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="HDGF like 2"
                     /db_xref="GeneID:84717"
                     /db_xref="HGNC:HGNC:14680"
                     /db_xref="MIM:617884"
     CDS             55..2070
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hepatoma-derived growth factor-related protein 2;
                     HDGF-related protein 2"
                     /codon_start=1
                     /product="hepatoma-derived growth factor-related protein 2
                     isoform 1"
                     /protein_id="NP_001001520.1"
                     /db_xref="CCDS:CCDS42472.1"
                     /db_xref="GeneID:84717"
                     /db_xref="HGNC:HGNC:14680"
                     /db_xref="MIM:617884"
                     /translation="MPHAFKPGDLVFAKMKGYPHWPARIDDIADGAVKPPPNKYPIFFF
                     GTHETAFLGPKDLFPYDKCKDKYGKPNKRKGFNEGLWEIQNNPHASYSAPPPVSSSDSE
                     APEANPADGSDADEDDEDRGVMAVTAVTATAASDRMESDSDSDKSSDNSGLKRKTPALK
                     MSVSKRARKASSDLDQASVSPSEEENSESSSESEKTSDQDFTPEKKAAVRAPRRGPLGG
                     RKKKKAPSASDSDSKADSDGAKPEPVAMARSASSSSSSSSSSDSDVSVKKPPRGRKPAE
                     KPLPKPRGRKPKPERPPSSSSSDSDSDEVDRISEWKRRDEARRRELEARRRREQEEELR
                     RLREQEKEEKERRRERADRGEAERGSGGSSGDELREDDEPVKKRGRKGRGRGPPSSSDS
                     EPEAELEREAKKSAKKPQSSSTEPARKPGQKEKRVRPEEKQQAKPVKVERTRKRSEGFS
                     MDRKVEKKKEPSVEEKLQKLHSEIKFALKVDSPDVKRCLNALEELGTLQVTSQILQKNT
                     DVVATLKKIRRYKANKDVMEKAAEVYTRLKSRVLGPKIEAVQKVNKAGMEKEKAEEKLA
                     GEELAGEEAPQEKAEDKPSTDLSAPVNGEATSQKGESAEDKEHEEGRDSEEGPRCGSSE
                     DLHDSVREGPDLDRPGSDRQERERARGDSEALDEES"
     misc_feature    310..1473
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z4V5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    394..396
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    463..465
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    547..549
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    742..744
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    748..750
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    754..756
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    772..774
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    850..852
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    967..969
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    1150..1152
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    1159..1161
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    1162..1164
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    1237..1239
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    1240..1242
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    1243..1245
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    1249..1251
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    1414..1416
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    1426..1428
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q925G1; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    1462..1710
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z4V5.1);
                     Region: Interaction with DPF3/BAF45C isoform 2.
                     /evidence=ECO:0000269|PubMed:32459350"
     misc_feature    1522..1524
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    1738..2067
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z4V5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1927..1929
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    1951..1953
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    1954..1956
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    1972..1974
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UMU9; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4V5.1); phosphorylation site"
     misc_feature    2008..2010
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q7Z4V5.1);
                     phosphorylation site"
     misc_feature    2044..2046
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q7Z4V5.1);
                     phosphorylation site"
     regulatory      2243..2248
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="hexamer: TATAAA"
     polyA_site      2267
                     /gene="HDGFL2"
                     /gene_synonym="HDGF-2; HDGF2; HDGFRP2; HRP-2; HRP2"
                     /note="major polyA site"
ORIGIN
        1 agccgctacc gccgctgcag ccgctttccg cggcctgggc ctctcgccgt cagcatgcca
       61 cacgccttca agcccgggga cttggtgttc gctaagatga agggctaccc tcactggcct
      121 gccaggatcg acgacatcgc ggatggcgcc gtgaagcccc cacccaacaa gtaccccatc
      181 tttttctttg gcacacacga aacagccttc ctgggaccca aggacctgtt cccctacgac
      241 aaatgtaaag acaagtacgg gaagcccaac aagaggaaag gcttcaatga agggctgtgg
      301 gagatccaga acaaccccca cgccagctac agcgcccctc cgccagtgag ctcctccgac
      361 agcgaggccc ccgaggccaa ccccgccgac ggcagtgacg ctgacgagga cgatgaggac
      421 cggggggtca tggccgtcac agcggtaacc gccacagctg ccagcgacag gatggagagc
      481 gactcagact cagacaagag tagcgacaac agtggcctga agaggaagac gcctgcgcta
      541 aagatgtcgg tctcgaaacg agcccgaaag gcctccagcg acctggatca ggccagcgtg
      601 tccccatccg aagaggagaa ctcggaaagc tcatctgagt cggagaagac cagcgaccag
      661 gacttcacac ctgagaagaa agcagcggtc cgggcgccac ggaggggccc tctgggggga
      721 cggaaaaaaa agaaggcgcc atcagcctcc gactccgact ccaaggccga ttcggacggg
      781 gccaagcctg agccggtggc catggcgcgg tcggcgtcct cctcctcctc ttcctcctcc
      841 tcctccgact ccgatgtgtc tgtgaagaag cctccgaggg gcaggaagcc agcggagaag
      901 cctctcccga agccgcgagg gcggaaaccg aagcctgaac ggcctccgtc cagctccagc
      961 agtgacagtg acagcgacga ggtggaccgc atcagtgagt ggaagcggcg ggacgaggcg
     1021 cggaggcgcg agctggaggc ccggcggcgg cgagagcagg aggaggagct gcggcgcctg
     1081 cgggagcagg agaaggagga gaaggagcgg aggcgcgagc gggccgaccg cggggaggct
     1141 gagcggggca gcggcggcag cagcggggac gagctcaggg aggacgatga gcccgtcaag
     1201 aagcggggac gcaagggccg gggccggggt cccccgtcct cctctgactc cgagcccgag
     1261 gccgagctgg agagagaggc caagaaatca gcgaagaagc cgcagtcctc aagcacagag
     1321 cccgccagga aacctggcca gaaggagaag agagtgcggc ccgaggagaa gcaacaagcc
     1381 aagcccgtga aggtggagcg gacccggaag cggtccgagg gcttctcgat ggacaggaag
     1441 gtagagaaga agaaagagcc ctccgtggag gagaagctgc agaagctgca cagtgagatc
     1501 aagtttgccc taaaggtcga cagcccggac gtgaagaggt gcctgaatgc cctagaggag
     1561 ctgggaaccc tgcaggtgac ctctcagatc ctccagaaga acacagacgt ggtggccacc
     1621 ttgaagaaga ttcgccgtta caaagcgaac aaggacgtaa tggagaaggc agcagaagtc
     1681 tatacccggc tcaagtcgcg ggtcctcggc ccaaagatcg aggcggtgca gaaagtgaac
     1741 aaggctggga tggagaagga gaaggccgag gagaagctgg ccggggagga gctggccggg
     1801 gaggaggccc cccaggagaa ggcggaggac aagcccagca ccgatctctc agccccagtg
     1861 aatggcgagg ccacatcaca gaagggggag agcgcagagg acaaggagca cgaggagggt
     1921 cgggactcgg aggaggggcc aaggtgtggc tcctctgaag acctgcacga cagcgtacgg
     1981 gagggtcccg acctggacag gcctgggagc gaccggcagg agcgcgagag ggcacggggg
     2041 gactcggagg ccctggacga ggagagctga gccgcgggca gccaggccca gcccccgccc
     2101 gagctcaggc tgcccctctc cttccccggc tcgcaggaga gcagagcaga gaactgtggg
     2161 gaacgctgtg ctgtttgtat ttgttccctt gggttttttt ttcctgccta atttctgtga
     2221 tttccaacca acatgaaatg actataaatg gttttttaat gaaaaaa
//
LOCUS       NM_001001524            1518 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA.
ACCESSION   NM_001001524
VERSION     NM_001001524.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1518)
  AUTHORS   Bodis K, Bombrich M, Schon M, Knebel B, Zaharia OP, Bonhof G,
            Karusheva Y, Strassburger K, Kupriyanova Y, Kotzka J, Guthoff R,
            Schrauwen-Hinderling V, Al-Hasani H, Burkart V, Szendroedi J, Wagner
            R, Markgraf DF and Roden M.
  CONSRTM   GDS study group
  TITLE     Effects of TM6SF2 rs58542926 polymorphism on hepatocellular lipids
            and insulin resistance in early type 2 diabetes
  JOURNAL   Nutr Metab Cardiovasc Dis 33 (9), 1785-1796 (2023)
   PUBMED   37495452
  REMARK    GeneRIF: Effects of TM6SF2 rs58542926 polymorphism on hepatocellular
            lipids and insulin resistance in early type 2 diabetes.
REFERENCE   2  (bases 1 to 1518)
  AUTHORS   Balcar L, Scheiner B, Urheu M, Weinberger P, Paternostro R,
            Simbrunner B, Semmler G, Willheim C, Pinter M, Ferenci P, Trauner M,
            Reiberger T, Stattermayer AF and Mandorfer M.
  TITLE     The impact of transmembrane 6 superfamily 2 (TM6SF2) rs58542926 on
            liver-related events in patients with advanced chronic liver disease
  JOURNAL   Dig Liver Dis 55 (8), 1072-1080 (2023)
   PUBMED   36863929
  REMARK    GeneRIF: The impact of transmembrane 6 superfamily 2 (TM6SF2)
            rs58542926 on liver-related events in patients with advanced chronic
            liver disease.
REFERENCE   3  (bases 1 to 1518)
  AUTHORS   Liu J, Qi W, Wang S, Zhang Y, Wang X, Sun D, Xu Y, Shi J, Duan H,
            Zhang Q, Wang H and Wang J.
  TITLE     Metabolic disorders induced by PNPLA3 and TM6SF2 gene variants
            affect chronic kidney disease in patients infected with non-genotype
            3 hepatitis C virus
  JOURNAL   Lipids Health Dis 22 (1), 91 (2023)
   PUBMED   37400794
  REMARK    GeneRIF: Metabolic disorders induced by PNPLA3 and TM6SF2 gene
            variants affect chronic kidney disease in patients infected with
            non-genotype 3 hepatitis C virus. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1518)
  AUTHORS   Mohamed Fteah A, Abdel Rahim A, Ahmed AbdelHady A, Shawky H, A
            Elrefaiy M and Mamdouh Aly D.
  TITLE     Association of PNPLA3 (rs738409) & TM6SF2 (rs58542926) and ATG16L1
            (rs2241880) genetic variants with susceptibility to hepatocellular
            carcinoma in a group of Egyptian patients with HCV-induced liver
            cirrhosis
  JOURNAL   Tumour Virus Res 15, 200256 (2023)
   PUBMED   36804832
  REMARK    GeneRIF: Association of PNPLA3 (rs738409) & TM6SF2 (rs58542926) and
            ATG16L1 (rs2241880) genetic variants with susceptibility to
            hepatocellular carcinoma in a group of Egyptian patients with
            HCV-induced liver cirrhosis.
REFERENCE   5  (bases 1 to 1518)
  AUTHORS   Kalafati IP, Dimitriou M, Revenas K, Kokkinos A, Deloukas P and
            Dedoussis GV.
  TITLE     TM6SF2-rs58542926 Genetic Variant Modifies the Protective Effect of
            a 'Prudent' Dietary Pattern on Serum Triglyceride Levels
  JOURNAL   Nutrients 15 (5), 1112 (2023)
   PUBMED   36904112
  REMARK    GeneRIF: TM6SF2-rs58542926 Genetic Variant Modifies the Protective
            Effect of a 'Prudent' Dietary Pattern on Serum Triglyceride Levels.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1518)
  AUTHORS   Holmen OL, Zhang H, Fan Y, Hovelson DH, Schmidt EM, Zhou W, Guo Y,
            Zhang J, Langhammer A, Lochen ML, Ganesh SK, Vatten L, Skorpen F,
            Dalen H, Zhang J, Pennathur S, Chen J, Platou C, Mathiesen EB,
            Wilsgaard T, Njolstad I, Boehnke M, Chen YE, Abecasis GR, Hveem K
            and Willer CJ.
  TITLE     Systematic evaluation of coding variation identifies a candidate
            causal variant in TM6SF2 influencing total cholesterol and
            myocardial infarction risk
  JOURNAL   Nat Genet 46 (4), 345-351 (2014)
   PUBMED   24633158
  REMARK    GeneRIF: TM6SF2 variant (Glu167Lys) influences total cholesterol
            levels and is associated with myocardial infarction.
REFERENCE   7  (bases 1 to 1518)
  AUTHORS   Kozlitina J, Smagris E, Stender S, Nordestgaard BG, Zhou HH,
            Tybjaerg-Hansen A, Vogt TF, Hobbs HH and Cohen JC.
  TITLE     Exome-wide association study identifies a TM6SF2 variant that
            confers susceptibility to nonalcoholic fatty liver disease
  JOURNAL   Nat Genet 46 (4), 352-356 (2014)
   PUBMED   24531328
  REMARK    GeneRIF: TM6SF2 activity is required for normal very-low-density
            lipoprotein secretion; impaired TM6SF2 function causally contributes
            to Nonalcoholic fatty liver disease.
REFERENCE   8  (bases 1 to 1518)
  AUTHORS   Ripke S, O'Dushlaine C, Chambert K, Moran JL, Kahler AK, Akterin S,
            Bergen SE, Collins AL, Crowley JJ, Fromer M, Kim Y, Lee SH,
            Magnusson PK, Sanchez N, Stahl EA, Williams S, Wray NR, Xia K,
            Bettella F, Borglum AD, Bulik-Sullivan BK, Cormican P, Craddock N,
            de Leeuw C, Durmishi N, Gill M, Golimbet V, Hamshere ML, Holmans P,
            Hougaard DM, Kendler KS, Lin K, Morris DW, Mors O, Mortensen PB,
            Neale BM, O'Neill FA, Owen MJ, Milovancevic MP, Posthuma D, Powell
            J, Richards AL, Riley BP, Ruderfer D, Rujescu D, Sigurdsson E,
            Silagadze T, Smit AB, Stefansson H, Steinberg S, Suvisaari J, Tosato
            S, Verhage M, Walters JT, Levinson DF, Gejman PV, Kendler KS,
            Laurent C, Mowry BJ, O'Donovan MC, Owen MJ, Pulver AE, Riley BP,
            Schwab SG, Wildenauer DB, Dudbridge F, Holmans P, Shi J, Albus M,
            Alexander M, Campion D, Cohen D, Dikeos D, Duan J, Eichhammer P,
            Godard S, Hansen M, Lerer FB, Liang KY, Maier W, Mallet J, Nertney
            DA, Nestadt G, Norton N, O'Neill FA, Papadimitriou GN, Ribble R,
            Sanders AR, Silverman JM, Walsh D, Williams NM, Wormley B, Arranz
            MJ, Bakker S, Bender S, Bramon E, Collier D, Crespo-Facorro B, Hall
            J, Iyegbe C, Jablensky A, Kahn RS, Kalaydjieva L, Lawrie S, Lewis
            CM, Lin K, Linszen DH, Mata I, McIntosh A, Murray RM, Ophoff RA,
            Powell J, Rujescu D, Van Os J, Walshe M, Weisbrod M, Wiersma D,
            Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP,
            Corvin AP, Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew
            CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC,
            Viswanathan AC, Wood NW, Spencer CC, Band G, Bellenguez C, Freeman
            C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson RD, Strange A,
            Su Z, Vukcevic D, Donnelly P, Langford C, Hunt SE, Edkins S,
            Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Gray E,
            Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC,
            Ravindrarajah R, Ricketts M, Tashakkori-Ghanbaria A, Waller MJ,
            Weston P, Widaa S, Whittaker P, Barroso I, Deloukas P, Mathew CG,
            Blackwell JM, Brown MA, Corvin AP, McCarthy MI, Spencer CC, Bramon
            E, Corvin AP, O'Donovan MC, Stefansson K, Scolnick E, Purcell S,
            McCarroll SA, Sklar P, Hultman CM and Sullivan PF.
  CONSRTM   Multicenter Genetic Studies of Schizophrenia Consortium; Psychosis
            Endophenotypes International Consortium; Wellcome Trust Case Control
            Consortium 2
  TITLE     Genome-wide association analysis identifies 13 new risk loci for
            schizophrenia
  JOURNAL   Nat Genet 45 (10), 1150-1159 (2013)
   PUBMED   23974872
REFERENCE   9  (bases 1 to 1518)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr
            M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano
            A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin
            E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D,
            Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M,
            Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J,
            Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou
            Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J,
            Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP,
            Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers
            S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V,
            Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J,
            Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M,
            Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar
            DS, Myers RM, Rubin EM and Lucas SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
REFERENCE   10  (bases 1 to 1518)
  AUTHORS   Carim-Todd L, Escarceller M, Estivill X and Sumoy L.
  TITLE     Cloning of the novel gene TM6SF1 reveals conservation of clusters of
            paralogous genes between human chromosomes 15q24-->q26 and
            19p13.3-->p12
  JOURNAL   Cytogenet Cell Genet 90 (3-4), 255-260 (2000)
   PUBMED   11124529
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853562.17504.1,
            SRR14038197.176530.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000389363.5/ ENSP00000374014.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC003967.2, DA930032.1, AF255923.1 and AK097070.1.
            On Nov 22, 2018 this sequence version replaced NM_001001524.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1518
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..1518
                     /gene="TM6SF2"
                     /note="transmembrane 6 superfamily member 2"
                     /db_xref="GeneID:53345"
                     /db_xref="HGNC:HGNC:11861"
                     /db_xref="MIM:606563"
     CDS             87..1220
                     /gene="TM6SF2"
                     /codon_start=1
                     /product="transmembrane 6 superfamily member 2"
                     /protein_id="NP_001001524.2"
                     /db_xref="CCDS:CCDS42528.1"
                     /db_xref="GeneID:53345"
                     /db_xref="HGNC:HGNC:11861"
                     /db_xref="MIM:606563"
                     /translation="MDIPPLAGKIAALSLSALPVSYALNHVSALSHPLWVALMSALILG
                     LLFVAVYSLSHGEVSYDPLYAVFAVFAFTSVVDLIIALQEDSYVVGFMEFYTKEGEPYL
                     RTAHGVFICYWDGTVHYLLYLAMAGAICRRKRYRNFGLYWLGSFAMSILVFLTGNILGK
                     YSSEIRPAFFLTIPYLLVPCWAGMKVFSQPRALTRCTANMVQEEQRKGLLQRPADLALV
                     IYLILAGFFTLFRGLVVLDCPTDACFVYIYQYEPYLRDPVAYPKVQMLMYMFYVLPFCG
                     LAAYALTFPGCSWLPDWALVFAGGIGQAQFSHMGASMHLRTPFTYRVPEDTWGCFFVCN
                     LLYALGPHLLAYRCLQWPAFFHQPPPSDPLALHKKQH"
     misc_feature    114..176
                     /gene="TM6SF2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZW4.3);
                     transmembrane region"
     misc_feature    186..248
                     /gene="TM6SF2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZW4.3);
                     transmembrane region"
     misc_feature    273..335
                     /gene="TM6SF2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZW4.3);
                     transmembrane region"
     misc_feature    417..479
                     /gene="TM6SF2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZW4.3);
                     transmembrane region"
     misc_feature    504..566
                     /gene="TM6SF2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZW4.3);
                     transmembrane region"
     misc_feature    594..656
                     /gene="TM6SF2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZW4.3);
                     transmembrane region"
     misc_feature    741..803
                     /gene="TM6SF2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZW4.3);
                     transmembrane region"
     misc_feature    891..953
                     /gene="TM6SF2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZW4.3);
                     transmembrane region"
     misc_feature    1080..1142
                     /gene="TM6SF2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZW4.3);
                     transmembrane region"
     regulatory      1493..1498
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TM6SF2"
                     /note="hexamer: AGTAAA"
     polyA_site      1518
                     /gene="TM6SF2"
                     /note="major polyA site"
ORIGIN
        1 agcctcggcc cggactcgcc gccaacgagg agccgagcgc cctggagaac gcgtcggggc
       61 tgagccgggg tccagcagcc gccgctatgg acatcccgcc gctggccggc aagatcgcgg
      121 cgctgtcgct gagcgccctc ccggtgtcct acgcgctcaa ccacgtctcg gcgctctcgc
      181 accccctgtg ggtggcattg atgagcgccc taatcctggg tctgcttttc gtggcggtct
      241 acagcttgtc ccatggcgag gtctcctatg acccactcta tgctgtcttc gctgtcttcg
      301 ccttcacctc ggttgtggac ctcatcatcg ctcttcagga agacagctat gtggtgggct
      361 tcatggagtt ctacaccaag gagggagagc catacctgcg cacagcgcac ggagtcttca
      421 tctgctactg ggatggcact gttcactacc tcctctacct ggccatggcc ggcgccatct
      481 gcagaaggaa gagataccgg aattttggac tctactggct gggttccttc gccatgagca
      541 tcctggtgtt ccttacagga aacattcttg gcaaatacag ctccgagatc aggcctgcct
      601 tcttcctcac catcccctac ctgctggtgc catgctgggc tggcatgaag gtcttcagcc
      661 agccccgggc gctaacccgc tgcaccgcca acatggtgca agaggaacaa agaaagggac
      721 tcctgcagcg tccggctgac ctggcccttg tcatatatct catccttgct ggcttcttca
      781 ctctgttccg gggcctggtg gtgcttgatt gccccacaga tgcctgcttt gtctatatct
      841 accagtatga gccatacctg cgggaccctg tggcctaccc taaggtgcag atgctgatgt
      901 acatgtttta tgtcctgcct ttctgcggcc tggctgccta tgctctcacc ttccctggtt
      961 gctcctggct tccagactgg gccttggtgt ttgctggagg catcggccag gcacagttct
     1021 cgcacatggg ggcttccatg cacctgcgca cacccttcac ctaccgtgtg cctgaggaca
     1081 cctggggctg cttcttcgtg tgcaatctgc tgtatgcgct gggcccccac ctgctggcct
     1141 accgttgcct tcagtggccc gcattcttcc accagccacc accctccgac cccctagccc
     1201 tccacaagaa gcagcattga gagagctgtg gactcaggac ccaggactct gtttacgtgc
     1261 ccagtcagcc ctacctgggg aagcgggggt tgggtgtttt agagacagga gggacatctc
     1321 cgggtgtctt tagtcttggc tatggtagtt tcagtccagt gggtgggatg gagaccaacg
     1381 accaagtgtt cctgcaagga gagcctccca cagctgtcac catgctccaa ctcccacaca
     1441 aacgcttcta ccccttccag aacttaccca tcatcccccc atggatcctt tcagtaaaaa
     1501 ccctttcaat ttccaaaa
//
LOCUS       NM_001001548            4598 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens CD36 molecule (CD36), transcript variant 1, mRNA.
ACCESSION   NM_001001548
VERSION     NM_001001548.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4598)
  AUTHORS   Liu LZ, Wang B, Zhang R, Wu Z, Huang Y, Zhang X, Zhou J, Yi J, Shen
            J, Li MY and Dong M.
  TITLE     The activated CD36-Src axis promotes lung adenocarcinoma cell
            proliferation and actin remodeling-involved metastasis in high-fat
            environment
  JOURNAL   Cell Death Dis 14 (8), 548 (2023)
   PUBMED   37612265
  REMARK    GeneRIF: The activated CD36-Src axis promotes lung adenocarcinoma
            cell proliferation and actin remodeling-involved metastasis in
            high-fat environment. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4598)
  AUTHORS   Li TT, Cui YT, Li TH, Xiang Q, Chen YY, Zheng XL, Peng J and Tang
            ZH.
  TITLE     TM6SF2 reduces lipid accumulation in vascular smooth muscle cells by
            inhibiting LOX-1 and CD36 expression
  JOURNAL   Exp Cell Res 429 (2), 113666 (2023)
   PUBMED   37271250
  REMARK    GeneRIF: TM6SF2 reduces lipid accumulation in vascular smooth muscle
            cells by inhibiting LOX-1 and CD36 expression.
REFERENCE   3  (bases 1 to 4598)
  AUTHORS   Liu J, Zhang X, Zhang Y, Qian M, Yang M, Yang S and Wang L.
  TITLE     Farnesyl diphosphate synthase exacerbates nonalcoholic
            steatohepatitis via the activation of AHR-CD36 axis
  JOURNAL   FASEB J 37 (7), e23035 (2023)
   PUBMED   37310396
  REMARK    GeneRIF: Farnesyl diphosphate synthase exacerbates nonalcoholic
            steatohepatitis via the activation of AHR-CD36 axis.
REFERENCE   4  (bases 1 to 4598)
  AUTHORS   Wang SSY, Chee K, Wong SW, Tan GB, Ang H, Leung BP, Tan CW,
            Ramanathan K, Dalan R, Cheung C, Lye DC, Young BE, Yap ES, Chia YW
            and Fan BE.
  CONSRTM   COVID-19 Clotting and Bleeding Investigators
  TITLE     Increased Platelet Activation demonstrated by Elevated CD36 and
            P-Selectin Expression in 1-Year Post-Recovered COVID-19 Patients
  JOURNAL   Semin Thromb Hemost 49 (5), 561-564 (2023)
   PUBMED   36781153
  REMARK    GeneRIF: Increased Platelet Activation demonstrated by Elevated CD36
            and P-Selectin Expression in 1-Year Post-Recovered COVID-19
            Patients.
REFERENCE   5  (bases 1 to 4598)
  AUTHORS   Gadagkar SG, Lalancette-Hebert M, Thammisetty SS, Vexler ZS and Kriz
            J.
  TITLE     CD36 neutralisation blunts TLR2-IRF7 but not IRF3 pathway in
            neonatal mouse brain and immature human microglia following innate
            immune challenge
  JOURNAL   Sci Rep 13 (1), 2304 (2023)
   PUBMED   36759676
  REMARK    GeneRIF: CD36 neutralisation blunts TLR2-IRF7 but not IRF3 pathway
            in neonatal mouse brain and immature human microglia following
            innate immune challenge. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4598)
  AUTHORS   Griffin E, Re A, Hamel N, Fu C, Bush H, McCaffrey T and Asch AS.
  TITLE     A link between diabetes and atherosclerosis: Glucose regulates
            expression of CD36 at the level of translation
  JOURNAL   Nat Med 7 (7), 840-846 (2001)
   PUBMED   11433350
REFERENCE   7  (bases 1 to 4598)
  AUTHORS   Siddiqui FA and Lian EC.
  TITLE     Platelet-agglutinating protein p37 from a thrombotic
            thrombocytopenic purpura plasma forms complexes with platelet
            membrane glycoprotein IV (CD36)
  JOURNAL   Biochem Int 27 (3), 485-496 (1992)
   PUBMED   1384492
REFERENCE   8  (bases 1 to 4598)
  AUTHORS   Huang MM, Bolen JB, Barnwell JW, Shattil SJ and Brugge JS.
  TITLE     Membrane glycoprotein IV (CD36) is physically associated with the
            Fyn, Lyn, and Yes protein-tyrosine kinases in human platelets
  JOURNAL   Proc Natl Acad Sci U S A 88 (17), 7844-7848 (1991)
   PUBMED   1715582
REFERENCE   9  (bases 1 to 4598)
  AUTHORS   Tandon NN, Kralisz U and Jamieson GA.
  TITLE     Identification of glycoprotein IV (CD36) as a primary receptor for
            platelet-collagen adhesion
  JOURNAL   J Biol Chem 264 (13), 7576-7583 (1989)
   PUBMED   2468670
REFERENCE   10  (bases 1 to 4598)
  AUTHORS   Tandon NN, Lipsky RH, Burgess WH and Jamieson GA.
  TITLE     Isolation and characterization of platelet glycoprotein IV (CD36)
  JOURNAL   J Biol Chem 264 (13), 7570-7575 (1989)
   PUBMED   2468669
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.4143212.1,
            SRR14038192.2174595.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000447544.7/ ENSP00000415743.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            regulatory uORF             :: PMID: 11433350
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124834.1 and AC073850.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 23, 2020 this sequence version replaced NM_001001548.2.
            Summary: The protein encoded by this gene is the fourth major
            glycoprotein of the platelet surface and serves as a receptor for
            thrombospondin in platelets and various cell lines. Since
            thrombospondins are widely distributed proteins involved in a
            variety of adhesive processes, this protein may have important
            functions as a cell adhesion molecule. It binds to collagen,
            thrombospondin, anionic phospholipids and oxidized LDL. It directly
            mediates cytoadherence of Plasmodium falciparum parasitized
            erythrocytes and it binds long chain fatty acids and may function
            in the transport and/or as a regulator of fatty acid transport.
            Mutations in this gene cause platelet glycoprotein deficiency.
            Multiple alternatively spliced transcript variants have been found
            for this gene. [provided by RefSeq, Feb 2014].
            Transcript Variant: This variant (1) has an alternate 3' UTR,
            compared to variant 3. Variants 1-5 and 10-13 all encode the same
            isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4598
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.11"
     gene            1..4598
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="CD36 molecule"
                     /db_xref="GeneID:948"
                     /db_xref="HGNC:HGNC:1663"
                     /db_xref="MIM:173510"
     regulatory      61..120
                     /regulatory_class="uORF"
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:11433350]"
                     /note="this uORF is predicted to encode a 19 aa peptide
                     (PMID:11433350)"
     regulatory      117..167
                     /regulatory_class="uORF"
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:11433350]"
                     /note="this uORF is predicted to encode a 16 aa peptide
                     (PMID:11433350)"
     regulatory      173..187
                     /regulatory_class="uORF"
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:11433350]"
                     /note="this uORF is predicted to encode a 4 aa peptide
                     (PMID:11433350)"
     misc_feature    277..279
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="upstream in-frame stop codon"
     CDS             289..1707
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cluster determinant 36; fatty acid translocase; CD36
                     molecule (thrombospondin receptor); scavenger receptor
                     class B, member 3; CD36 antigen (collagen type I receptor,
                     thrombospondin receptor); glycoprotein IIIb; platelet
                     glycoprotein IV; leukocyte differentiation antigen CD36;
                     PAS-4 protein; platelet glycoprotein 4; GPIIIB; PAS IV"
                     /codon_start=1
                     /product="platelet glycoprotein 4 isoform 1"
                     /protein_id="NP_001001548.1"
                     /db_xref="CCDS:CCDS34673.1"
                     /db_xref="GeneID:948"
                     /db_xref="HGNC:HGNC:1663"
                     /db_xref="MIM:173510"
                     /translation="MGCDRNCGLIAGAVIGAVLAVFGGILMPVGDLLIQKTIKKQVVLE
                     EGTIAFKNWVKTGTEVYRQFWIFDVQNPQEVMMNSSNIQVKQRGPYTYRVRFLAKENVT
                     QDAEDNTVSFLQPNGAIFEPSLSVGTEADNFTVLNLAVAAASHIYQNQFVQMILNSLIN
                     KSKSSMFQVRTLRELLWGYRDPFLSLVPYPVTTTVGLFYPYNNTADGVYKVFNGKDNIS
                     KVAIIDTYKGKRNLSYWESHCDMINGTDAASFPPFVEKSQVLQFFSSDICRSIYAVFES
                     DVNLKGIPVYRFVLPSKAFASPVENPDNYCFCTEKIISKNCTSYGVLDISKCKEGRPVY
                     ISLPHFLYASPDVSEPIDGLNPNEEEHRTYLDIEPITGFTLQFAKRLQVNLLVKPSEKI
                     QVLKNLKRNYIVPILWLNETGTIGDEKANMFRSQVTGKINLLGLIEMILLSVGVVMFVA
                     FMISYCACRSKTIK"
     misc_feature    310..375
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="propagated from UniProtKB/Swiss-Prot (P16671.2);
                     transmembrane region"
     misc_feature    523..525
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16671.2); glycosylation site"
     misc_feature    565..648
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="propagated from UniProtKB/Swiss-Prot (P16671.2);
                     Region: Required for interaction with thrombospondins,
                     THBS1 and THBS2. /evidence=ECO:0000269|PubMed:1371676"
     misc_feature    592..594
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16671.2); glycosylation site"
     misc_feature    688..690
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16671.2); glycosylation site"
     misc_feature    775..777
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16671.2); glycosylation site"
     misc_feature    901..903
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P16671.2); glycosylation site"
     misc_feature    946..948
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16671.2); glycosylation site"
     misc_feature    991..993
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16671.2); glycosylation site"
     misc_feature    1027..1029
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P16671.2); glycosylation site"
     misc_feature    1249..1251
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:18780401; propagated from
                     UniProtKB/Swiss-Prot (P16671.2); glycosylation site"
     misc_feature    1537..1539
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16263699,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P16671.2); glycosylation site"
     misc_feature    1606..1671
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="propagated from UniProtKB/Swiss-Prot (P16671.2);
                     transmembrane region"
     misc_feature    1666..1704
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="propagated from UniProtKB/Swiss-Prot (P16671.2);
                     Region: Interaction with PTK2, PXN and LYN.
                     /evidence=ECO:0000269|PubMed:20037584"
     misc_feature    1675..1677
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="Critical for TLR4-TLR6 dimerization and signaling.
                     /evidence=ECO:0000269|PubMed:20037584; propagated from
                     UniProtKB/Swiss-Prot (P16671.2); other site"
     regulatory      2312..2317
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="hexamer: ATTAAA"
     polyA_site      2334
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="major polyA site"
     regulatory      4573..4578
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="hexamer: AATAAA"
     polyA_site      4598
                     /gene="CD36"
                     /gene_synonym="BDPLT10; CHDS7; FAT; GP3B; GP4; GPIV; PASIV;
                     SCARB3"
                     /note="major polyA site"
ORIGIN
        1 aggactgcag tgtaggactt tcctgcagaa taccatttga tcctattaag aattgtccaa
       61 atgttggagc atttgattga aaaatccttc ttagccattt taaagatagc tttccaatga
      121 ttagacgaat tgattctttc tgtgactcat cagttcattt cctgtaaaat tcatgtcttg
      181 ctgttgattt gtgaataaga accagagctt gtagaaacca ctttaatcat atccaggagt
      241 ttgcaagaaa caggtgctta acactaattc acctcctgaa caagaaaaat gggctgtgac
      301 cggaactgtg ggctcatcgc tggggctgtc attggtgctg tcctggctgt gtttggaggt
      361 attctaatgc cagttggaga cctgcttatc cagaagacaa ttaaaaagca agttgtcctc
      421 gaagaaggta caattgcttt taaaaattgg gttaaaacag gcacagaagt ttacagacag
      481 ttttggatct ttgatgtgca aaatccacag gaagtgatga tgaacagcag caacattcaa
      541 gttaagcaaa gaggtcctta tacgtacaga gttcgttttc tagccaagga aaatgtaacc
      601 caggacgctg aggacaacac agtctctttc ctgcagccca atggtgccat cttcgaacct
      661 tcactatcag ttggaacaga ggctgacaac ttcacagttc tcaatctggc tgtggcagct
      721 gcatcccata tctatcaaaa tcaatttgtt caaatgatcc tcaattcact tattaacaag
      781 tcaaaatctt ctatgttcca agtcagaact ttgagagaac tgttatgggg ctatagggat
      841 ccatttttga gtttggttcc gtaccctgtt actaccacag ttggtctgtt ttatccttac
      901 aacaatactg cagatggagt ttataaagtt ttcaatggaa aagataacat aagtaaagtt
      961 gccataatcg acacatataa aggtaaaagg aatctgtcct attgggaaag tcactgcgac
     1021 atgattaatg gtacagatgc agcctcattt ccaccttttg ttgagaaaag ccaggtattg
     1081 cagttctttt cttctgatat ttgcaggtca atctatgctg tatttgaatc cgacgttaat
     1141 ctgaaaggaa tccctgtgta tagatttgtt cttccatcca aggcctttgc ctctccagtt
     1201 gaaaacccag acaactattg tttctgcaca gaaaaaatta tctcaaaaaa ttgtacatca
     1261 tatggtgtgc tagacatcag caaatgcaaa gaagggagac ctgtgtacat ttcacttcct
     1321 cattttctgt atgcaagtcc tgatgtttca gaacctattg atggattaaa cccaaatgaa
     1381 gaagaacata ggacatactt ggatattgaa cctataactg gattcacttt acaatttgca
     1441 aaacggctgc aggtcaacct attggtcaag ccatcagaaa aaattcaagt attaaagaat
     1501 ctgaagagga actatattgt gcctattctt tggcttaatg agactgggac cattggtgat
     1561 gagaaggcaa acatgttcag aagtcaagta actggaaaaa taaacctcct tggcctgata
     1621 gaaatgatct tactcagtgt tggtgtggtg atgtttgttg cttttatgat ttcatattgt
     1681 gcatgcagat cgaaaacaat aaaataaacc tggctcaagc acaaaccaat ttgtgttgtt
     1741 ctgattcaat aattggtttc tgggtggcca attcagaaga agagtgtaca tgctcaacaa
     1801 atcctaggcc ctgcattcct gtcatcctca tccgggggaa acaccatcat cccagtagct
     1861 gccctattca actgcaacag tctccaggac catcagtata ctgcatttca tgtgcaccaa
     1921 atattttgaa agacatttat aaataattgg cttatgactc atatttctct atgaatacct
     1981 tcatacagca ggtataactc ttttctttat gggcttaaat attttgtcac tgatcctgca
     2041 aatggacatc attttagcac actagcggtt tatattttaa ggaccttcat tctctgttct
     2101 gcacctcttc tggaaattga gtaaattttg cttttttttt tttactcagt tgcaacttac
     2161 gcttggcatc ttcagaatgc ttttctagca ttaagagatg taaatgataa aggaattatt
     2221 gtatgaaata ttacaaagcg tagactatgc attgttattc attataatat tttttgctgt
     2281 cataatcgcc tcataaagac aggtttcaac cattaaaata tgttcttcct taaattcctg
     2341 tgctttttct agttcctctt gtgtcataaa atgtttatcc taattttctc tctgaagtat
     2401 attttatctg aatccacatt tctttataaa tccatagtcc ttgctgaaat atgctttcta
     2461 aatttctacc actttgttct aggctaattt tttaagctaa ttggatgaag aacaaaaaga
     2521 catttggttt catcctttac agcagtagga caattgcaaa ggtttttcct ttttcataag
     2581 gagacacatt aataggtaac tctgtttctt gagcaggggt tcacttattc tgagagcatt
     2641 agttctccta aaaagctcca gcatagaaag ggaagataaa ccaaattcta gcttgtgttt
     2701 tacccacaga aggatacagg acaaaggaat agtaactggc ctgtttggat actaaaatcg
     2761 aaaataactt ttagcctcct ccttatgata gccgccagag taaatgttga gcattactac
     2821 agaaaagcca caaaccaaga atctacctgt ttggaaagat cttttgcatc tctgaaggtg
     2881 cttaaagcat acttagtgcc tttcctttta actgggaaga taaaagaagt atctgtccaa
     2941 gatattaata tgtaagataa cattgtagac atgttcttct gataatacaa ggtttattct
     3001 atttgcatta ggatatttgt ggacatgtcc atctaatata aaggaaagtt ttttaatcat
     3061 tgaggcatgt agggctgagt tatataatgt agaaacttct aaagataatt ggatgagaat
     3121 atacatattg acctgtatat tatgactaat catgactcag atcttaatac agggatgatc
     3181 tcatagcatt tagatatcag aaaaggtttt gacctatatg tctttaatat tgtttgaata
     3241 catgtataat ctttatcatt cctcagtgtt tcatttctca aattctgtaa aaggaatata
     3301 agaggaaaga caattcatat acaaagacaa cgagattaaa aatatgcagt aggaaaaata
     3361 attacttaag gggagatttt ttttacatga aatctgggct ttggatgtgt gtgtgtgtgt
     3421 gtgtgtgtgt gtgtgtgcac atatgcactg tggtgggagt ggggcaactt ggggaatatg
     3481 ttacatgtgt gactttgttt tgccctggcg aagttaatgt tgttcagaaa gggtaaatgt
     3541 ttggacactt gcaattgctc atggatgaat ttatatgttt tagtcataga aaaattgtac
     3601 cctttgatag aagcacattt tctttccaaa gctggttatt aaccacagaa ttatagcagg
     3661 tattcataac ttaagtttga aaatcaatag cgtctgcaaa tggattaaca gattagagaa
     3721 tcaacagcat cggaaaatag gttaatgcat attgcttcta acaagtgcat gaagaaatag
     3781 aagaagctat gtagctttca gttctgacag aaaagggtga aggagggtat catttcaaga
     3841 aaaaaaatag ctatcacgca atggttatct ctgaaaatat ttgtattaag atgtgtatac
     3901 atggccaggc atggtggctc atgcctgtaa tcccagcact ttgggaggca ggtggatcac
     3961 gaggtcagga gatcaagacc atcctggcca acatggtgaa acctcatctc tactaaaaat
     4021 acaaaaatga gcggggtgtg gtggcccatg cctgtagtcc cagctgctcg ggagactgaa
     4081 tctcttgagc ctgggaagca gaggttgcag tgaactgaga tcgcgtcact gcactccagc
     4141 ctggtgacag agcgagattc catctcaaaa aaaaaaaaca gtatgcacgt acaaatttct
     4201 taacctgtta tcaatgtctg agctacataa ttatctttct agttggagtt tgttttaggt
     4261 gtgtaccaac tgacatttca gtttttctgt ttgaagtcca atgtattagt gactctgtgg
     4321 ctgctctctt cacctgcccc ttgtggcctg tctacaattc taaatggatt ttgaactcaa
     4381 tgtcgtcgct tctggtttcc tgcatatacc aatagcatta cctatgactt tttttttcct
     4441 gagctatttt cactgagctg agctaatgaa ctaaaactga gttatgttta atatttgtat
     4501 caaatacata aaaggaatac tgctttttcc ttttgtggct caaaggtagc tgcattttaa
     4561 aatatttgtg aaaataaaaa cttttgttat tagaaaaa
//
LOCUS       NM_001001551             936 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens IDNK gluconokinase (IDNK), transcript variant 1, mRNA.
ACCESSION   NM_001001551
VERSION     NM_001001551.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 936)
  AUTHORS   Rohatgi N, Guethmundsson S and Rolfsson O.
  TITLE     Kinetic analysis of gluconate phosphorylation by human gluconokinase
            using isothermal titration calorimetry
  JOURNAL   FEBS Lett 589 (23), 3548-3555 (2015)
   PUBMED   26505675
REFERENCE   2  (bases 1 to 936)
  AUTHORS   Rohatgi N, Nielsen TK, Bjorn SP, Axelsson I, Paglia G, Voldborg BG,
            Palsson BO and Rolfsson O.
  TITLE     Biochemical characterization of human gluconokinase and the proposed
            metabolic impact of gluconic acid as determined by constraint based
            metabolic network analysis
  JOURNAL   PLoS One 9 (6), e98760 (2014)
   PUBMED   24896608
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 936)
  AUTHORS   Rolfsson O, Paglia G, Magnusdottir M, Palsson BO and Thiele I.
  TITLE     Inferring the metabolism of human orphan metabolites from their
            metabolic network context affirms human gluconokinase activity
  JOURNAL   Biochem J 449 (2), 427-435 (2013)
   PUBMED   23067238
  REMARK    GeneRIF: Data show that C9orf103 encodes a functional gluconokinase.
REFERENCE   4  (bases 1 to 936)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.20673.1,
            SRR5189664.18512.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000376419.5/ ENSP00000365601.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC036421.1 and AY615889.1.
            On Nov 22, 2018 this sequence version replaced NM_001001551.3.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.32"
     gene            1..936
                     /gene="IDNK"
                     /gene_synonym="bA522I20.2; C9orf103; hGntK"
                     /note="IDNK gluconokinase"
                     /db_xref="GeneID:414328"
                     /db_xref="HGNC:HGNC:31367"
                     /db_xref="MIM:611343"
     CDS             30..593
                     /gene="IDNK"
                     /gene_synonym="bA522I20.2; C9orf103; hGntK"
                     /EC_number="2.7.1.12"
                     /note="isoform 1 is encoded by transcript variant 1;
                     gluconokinase-like protein; probable gluconokinase;
                     glucokinase-like protein; gluconate kinase; idnK,
                     gluconokinase homolog"
                     /codon_start=1
                     /product="probable gluconokinase isoform 1"
                     /protein_id="NP_001001551.2"
                     /db_xref="CCDS:CCDS35048.2"
                     /db_xref="GeneID:414328"
                     /db_xref="HGNC:HGNC:31367"
                     /db_xref="MIM:611343"
                     /translation="MAAPGALLVMGVSGSGKSTVGALLASELGWKFYDADDYHPEENRR
                     KMGKGIPLNDQDRIPWLCNLHDILLRDVASGQRVVLACSALKKTYRDILTQGKDGVALK
                     CEESGKEAKQAEMQLLVVHLSGSFEVISGRLLKREGHFMPPELLQSQFETLEPPAAPEN
                     FIQISVDKNVSEIIATIMETLKMK"
     regulatory      916..921
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IDNK"
                     /gene_synonym="bA522I20.2; C9orf103; hGntK"
                     /note="hexamer: AATAAA"
     polyA_site      936
                     /gene="IDNK"
                     /gene_synonym="bA522I20.2; C9orf103; hGntK"
                     /note="major polyA site"
ORIGIN
        1 aggcgacggg aaggagccga gcttgggtta tggcggcgcc gggcgcgctg ctggtgatgg
       61 gcgtgagcgg ctcggggaaa tccaccgtgg gcgccctgct ggcatctgag ctgggatgga
      121 aattctatga tgctgatgat tatcacccgg aggaaaatcg aaggaagatg ggaaaaggca
      181 taccgctcaa tgaccaggac cggattccat ggctctgtaa cttgcatgac attttactaa
      241 gagatgtagc ctcgggacag cgtgtggttc tagcctgttc agccctgaag aaaacgtaca
      301 gagacatatt aacacaagga aaagatggtg tagctctgaa gtgtgaggag tcgggaaagg
      361 aagcaaagca ggctgagatg cagctcctgg tggtccatct gagcgggtcg tttgaggtca
      421 tctctggacg cttactcaaa agagagggac attttatgcc ccctgaatta ttgcagtccc
      481 agtttgagac tctggagccc ccagcagctc cagaaaactt tatccaaata agtgtggaca
      541 aaaatgtttc agagataatt gctacaatta tggaaaccct aaaaatgaaa tgacaatgat
      601 tttgtatcag tggtccaaac agaactaagc ataaatcatt gtgccatccc aaacctcgtt
      661 ccagccgcct tgcccatact agattctaaa tgtttctaaa ggcaaacccc aatgtgtcaa
      721 gacagacttg tttaggtgta attttaggaa ttatgctggt tcatcaggaa gcagaggggg
      781 agttttaaaa gtcaagctta aattgaagtt taaattcatc tataaccaaa tcaaatgatc
      841 agaggaaatt ctgtaatcaa tgctggaaat cgttacattg tttagaacat tcttgctcat
      901 gcctgtattt gcacaaataa atgaaacttc gctgtc
//
LOCUS       NM_001001557            3712 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens growth differentiation factor 6 (GDF6), mRNA.
ACCESSION   NM_001001557
VERSION     NM_001001557.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3712)
  AUTHORS   Peschl V, Seitz T, Sommer J, Thasler W, Bosserhoff A and Hellerbrand
            C.
  TITLE     Bone morphogenetic protein 13 in hepatic stellate cells and hepatic
            fibrosis
  JOURNAL   J Cell Biochem 123 (10), 1544-1552 (2022)
   PUBMED   35442524
  REMARK    GeneRIF: Bone morphogenetic protein 13 in hepatic stellate cells and
            hepatic fibrosis.
REFERENCE   2  (bases 1 to 3712)
  AUTHORS   Wu R, Hu W, Chen H, Wang Y, Li Q, Xiao C, Fan L, Zhong Z, Chen X, Lv
            K, Zhong S, Shi Y, Chen J, Zhu W, Zhang J, Hu X and Wang J.
  TITLE     A Novel Human Long Noncoding RNA SCDAL Promotes Angiogenesis through
            SNF5-Mediated GDF6 Expression
  JOURNAL   Adv Sci (Weinh) 8 (18), e2004629 (2021)
   PUBMED   34319658
  REMARK    GeneRIF: A Novel Human Long Noncoding RNA SCDAL Promotes
            Angiogenesis through SNF5-Mediated GDF6 Expression.
REFERENCE   3  (bases 1 to 3712)
  AUTHORS   Clarke RA, Fang Z, Murrell D, Sheriff T and Eapen V.
  TITLE     GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and
            Speech Impairment
  JOURNAL   Genes (Basel) 12 (9), 1354 (2021)
   PUBMED   34573339
  REMARK    GeneRIF: GDF6 Knockdown in a Family with Multiple Synostosis
            Syndrome and Speech Impairment. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3712)
  AUTHORS   Fang Z, Zhao Z, Eapen V and Clarke RA.
  TITLE     siRNA Mediate RNA Interference Concordant with Early On-Target
            Transient Transcriptional Interference
  JOURNAL   Genes (Basel) 12 (8), 1290 (2021)
   PUBMED   34440463
  REMARK    GeneRIF: siRNA Mediate RNA Interference Concordant with Early
            On-Target Transient Transcriptional Interference. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 3712)
  AUTHORS   Reddi AH.
  TITLE     Cartilage morphogenesis: role of bone and cartilage morphogenetic
            proteins, homeobox genes and extracellular matrix
  JOURNAL   Matrix Biol 14 (8), 599-606 (1995)
   PUBMED   9057810
  REMARK    Review article
REFERENCE   6  (bases 1 to 3712)
  AUTHORS   Chang SC, Hoang B, Thomas JT, Vukicevic S, Luyten FP, Ryba NJ, Kozak
            CA, Reddi AH and Moos M Jr.
  TITLE     Cartilage-derived morphogenetic proteins. New members of the
            transforming growth factor-beta superfamily predominantly expressed
            in long bones during human embryonic development
  JOURNAL   J Biol Chem 269 (45), 28227-28234 (1994)
   PUBMED   7961761
REFERENCE   7  (bases 1 to 3712)
  AUTHORS   Storm EE, Huynh TV, Copeland NG, Jenkins NA, Kingsley DM and Lee SJ.
  TITLE     Limb alterations in brachypodism mice due to mutations in a new
            member of the TGF beta-superfamily
  JOURNAL   Nature 368 (6472), 639-643 (1994)
   PUBMED   8145850
REFERENCE   8  (bases 1 to 3712)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   30285347
REFERENCE   9  (bases 1 to 3712)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301552
REFERENCE   10  (bases 1 to 3712)
  AUTHORS   Juberg,R.C. and Gershanik,J.J.
  TITLE     Cervical vertebral fusion (Klippel-Feil) syndrome with
            consanguineous parents
  JOURNAL   J Med Genet 13 (3), 246-249 (1976)
   PUBMED   933127
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AJ537424.1, CN282698.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000287020.7/ ENSP00000287020.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003465.2, AJ537424.1 and
            CA423567.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001001557.3.
            Summary: This gene encodes a secreted ligand of the TGF-beta
            (transforming growth factor-beta) superfamily of proteins. Ligands
            of this family bind various TGF-beta receptors leading to
            recruitment and activation of SMAD family transcription factors
            that regulate gene expression. The encoded preproprotein is
            proteolytically processed to generate each subunit of the
            disulfide-linked homodimer. This protein is required for normal
            formation of some bones and joints in the limbs, skull, and axial
            skeleton. Mutations in this gene are associated with Klippel-Feil
            syndrome, microphthalmia, and Leber congenital amaurosis. [provided
            by RefSeq, Sep 2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3712
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.1"
     gene            1..3712
                     /gene="GDF6"
                     /gene_synonym="BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL;
                     SGM1; SYNS4"
                     /note="growth differentiation factor 6"
                     /db_xref="GeneID:392255"
                     /db_xref="HGNC:HGNC:4221"
                     /db_xref="MIM:601147"
     CDS             115..1482
                     /gene="GDF6"
                     /gene_synonym="BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL;
                     SGM1; SYNS4"
                     /note="growth/differentiation factor 16; bone morphogenetic
                     protein 13"
                     /codon_start=1
                     /product="growth/differentiation factor 6 preproprotein"
                     /protein_id="NP_001001557.1"
                     /db_xref="CCDS:CCDS34926.1"
                     /db_xref="GeneID:392255"
                     /db_xref="HGNC:HGNC:4221"
                     /db_xref="MIM:601147"
                     /translation="MDTPRVLLSAVFLISFLWDLPGFQQASISSSSSSAELGSTKGMRS
                     RKEGKMQRAPRDSDAGREGQEPQPRPQDEPRAQQPRAQEPPGRGPRVVPHEYMLSIYRT
                     YSIAEKLGINASFFQSSKSANTITSFVDRGLDDLSHTPLRRQKYLFDVSMLSDKEELVG
                     AELRLFRQAPSAPWGPPAGPLHVQLFPCLSPLLLDARTLDPQGAPPAGWEVFDVWQGLR
                     HQPWKQLCLELRAAWGELDAGEAEARARGPQQPPPPDLRSLGFGRRVRPPQERALLVVF
                     TRSQRKNLFAEMREQLGSAEAAGPGAGAEGSWPPPSGAPDARPWLPSPGRRRRRTAFAS
                     RHGKRHGKKSRLRCSKKPLHVNFKELGWDDWIIAPLEYEAYHCEGVCDFPLRSHLEPTN
                     HAIIQTLMNSMDPGSTPPSCCVPTKLTPISILYIDAGNNVVYKQYEDMVVESCGCR"
     sig_peptide     115..180
                     /gene="GDF6"
                     /gene_synonym="BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL;
                     SGM1; SYNS4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    199..393
                     /gene="GDF6"
                     /gene_synonym="BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL;
                     SGM1; SYNS4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6KF10.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    454..456
                     /gene="GDF6"
                     /gene_synonym="BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL;
                     SGM1; SYNS4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6KF10.1); glycosylation site"
     misc_feature    844..915
                     /gene="GDF6"
                     /gene_synonym="BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL;
                     SGM1; SYNS4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6KF10.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1012..1167
                     /gene="GDF6"
                     /gene_synonym="BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL;
                     SGM1; SYNS4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6KF10.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     1120..1479
                     /gene="GDF6"
                     /gene_synonym="BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL;
                     SGM1; SYNS4"
                     /product="Growth/differentiation factor 6.
                     /id=PRO_0000042253"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6KF10.1)"
     regulatory      3690..3695
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDF6"
                     /gene_synonym="BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL;
                     SGM1; SYNS4"
                     /note="hexamer: ATTAAA"
     polyA_site      3712
                     /gene="GDF6"
                     /gene_synonym="BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL;
                     SGM1; SYNS4"
                     /note="major polyA site"
ORIGIN
        1 gcactccgag tccgcccgag gagccgggcc ccggccgctg tccagccgct ccgtgccccg
       61 cgcgtcctgc gccgccgcca ccgcctcctg gggagacgca gccacttgcc cgccatggat
      121 actcccaggg tcctgctctc ggccgtcttc ctcatcagtt ttctgtggga tttgcccggt
      181 ttccagcagg cttccatctc atcctcctcg tcgtccgccg agctgggttc caccaagggc
      241 atgcgaagcc gcaaggaagg caagatgcag cgggcgccgc gcgacagtga cgcgggccgg
      301 gagggccagg aaccacagcc gcggcctcag gacgaacccc gggctcagca gccccgggcg
      361 caggagccgc caggcagggg tccgcgcgtg gtgccccacg agtacatgct gtcaatctac
      421 aggacttact ccatcgctga gaagctgggc atcaatgcca gctttttcca gtcttccaag
      481 tcggctaata cgatcaccag ctttgtagac aggggactag acgatctctc gcacactcct
      541 ctccggagac agaagtattt gtttgatgtg tccatgctct cagacaaaga agagctggtg
      601 ggcgcggagc tgcggctctt tcgccaggcg ccctcagcgc cctgggggcc accagccggg
      661 ccgctccacg tgcagctctt cccttgcctt tcgcccctac tgctggacgc gcggaccctg
      721 gacccgcagg gggcgccgcc ggccggctgg gaagtcttcg acgtgtggca gggcctgcgc
      781 caccagccct ggaagcagct gtgcttggag ctgcgggccg catggggcga gctggacgcc
      841 ggggaggccg aggcgcgcgc gcggggaccc cagcaaccgc cgcccccgga cctgcggagt
      901 ctgggcttcg gccggagggt gcggcctccc caggagcggg ccctgctggt ggtattcacc
      961 agatcccagc gcaagaacct gttcgcagag atgcgcgagc agctgggctc ggccgaggct
     1021 gcgggcccgg gcgcgggcgc cgaggggtcg tggccgccgc cgtcgggcgc cccggatgcc
     1081 aggccttggc tgccctcgcc cggccgccgg cggcggcgca cggccttcgc cagtcgccat
     1141 ggcaagcggc acggcaagaa gtccaggcta cgctgcagca agaagcccct gcacgtgaac
     1201 ttcaaggagc tgggctggga cgactggatt atcgcgcccc tggagtacga ggcctatcac
     1261 tgcgagggtg tatgcgactt cccgctgcgc tcgcacctgg agcccaccaa ccacgccatc
     1321 atccagacgc tgatgaactc catggacccc ggctccaccc cgcccagctg ctgcgtgccc
     1381 accaaattga ctcccatcag cattctatac atcgacgcgg gcaataatgt ggtctacaag
     1441 cagtacgagg acatggtggt ggagtcgtgc ggctgcaggt agcggtgcct ttcccgccgc
     1501 cttggcccgg aaccaaggtg ggccaaggtc cgccttgcag gggaggcctg gctgcagaga
     1561 ggcggaggag gaagctggcg ctgggggagg ctgagggtga gggaacagcc tggatgtgag
     1621 agccggtggg agagaaggga gcgcagcctt cccagtaact tctacctgcc agcccagagg
     1681 gaaatatgga ttttcacacc ttgcctggcc accctggaaa aacaagccaa ggaggatttc
     1741 ttttgttctg ttttctctct ctctctctct ctctctctct ctctctctct ctctctctct
     1801 attactgtgg ctttggattt ccttatgtgt cttacaggct ttgatagaag gggaggggag
     1861 gagagatgca tacccgtttc tcaactgctc catggattga aaaaataaca gtttaaaaag
     1921 ggaaacaatg tgggaggaag aatcaccgtt gacgcatctt gatttggttg gtttttacat
     1981 gtgtaaagaa ggtggggtct ctggccatgt catagcccat gtcttgtgcc ctcccacaca
     2041 gaaagtgtta gatagggaaa ttggcaaaaa gaatagttaa gtcaggaatg gtcctgccta
     2101 tagaagagct ttgagagagg tgggcccacg ggtgcccctc tcacccattt gtgtactctg
     2161 tgagtttacc agctctgccc tggcctcttt cggtaccagg aactggcaac cttcatctca
     2221 ctcctgaggg cccaggtctc tgccttcatt gttgcttttt ctggtggggg caaggggagc
     2281 tggtatggat ggaatgacaa gaattagtcc aaatggaacc ccttgaagga taatgagaaa
     2341 ccacaaggcc tgcctctgac tggggctgac acggaggtgc attagcccag gctggaggta
     2401 gcccacccaa atgccctttc tgattctaat tgatttcttt caacagaatt tgccaaaatt
     2461 cagacatgca cttctaaggg gaaggtgatt ttccagttca aaaaaatggg caggagtggg
     2521 gaacaaaaca attaacgtaa gagctacaaa ggagggaaaa ggaaccaaga agtagaagga
     2581 gtcccatcag gagggaagat ggtgggcctc agggaggatg gggatcaagg gacaggccag
     2641 gagccaggag tggggaaggg agggatgaaa ggggacacaa gtccctgtct ctgaagtttc
     2701 tttaaaatct gagttccctc ccctctcttt gacattcctg aaagattacc agccagcaat
     2761 agcccagggc tcccccaaaa gaattggttc agattgtaat tatcagttag gcaatgtttt
     2821 taaaacttag taatgagaaa ctgtgaaaag agccaagtgt tacattgagc ttggggtggg
     2881 agatggggaa caggcagtga ggaaggagac aggggtggaa ttcgtcttct gggaggaagc
     2941 tggagagagc acagtgaaat tgaaataccc attcccagat agtcaaaaac atgaactttc
     3001 ccccagcctg caccagtatt gttttcaaac attgcccatg agtaggccct ttgaagagtt
     3061 agcttcctcc tcatctttga ctataaaatt gtttaatcaa tggaatttgt accagccttt
     3121 taaaaagttt tagtttttcc taagtgattt tgctctcttc caatctaaac ctgttgcttg
     3181 tttggttcag agaactacaa actgtcaaag aaagggtggg gatgataaga aatgctaata
     3241 taaaaatgct aagtgaaaaa aagacttggc caggagaaat aatttaaaat gcacatttgc
     3301 tttggatgca ctgttgttct gttaaggctg tatatatttg tttatttaag gtgactgaaa
     3361 gtgcaaagag gaaatggaca gcatgcaatt catcctaatg tacaaaacgt tatatgcact
     3421 caaatgttat aatttctaat atttttaaag tttatattcg agttgtacaa agttaagcat
     3481 taatcagata tttcattttt tcataatgtt accattttct taaatattat tacaaaattt
     3541 taagtctgtc taatggagag ttttttttaa actgtctacc tcatataata caagtattta
     3601 caacgctaaa gttaccagag gtcaatgaat aatcaaaaca ttttttacag tacacctttc
     3661 ctggatgata tgcaatcgaa tgctatatta ttaaacgcat ttttctcctt aa
//
LOCUS       NM_001001563            5037 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens translocase of inner mitochondrial membrane 50
            (TIMM50), transcript variant 1, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_001001563
VERSION     NM_001001563.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5037)
  AUTHORS   Iglesias-Martinez LF, Rauch N, Wynne K, McCann B, Kolch W and Rauch
            J.
  TITLE     Interactome dynamics of RAF1-BRAF kinase monomers and dimers
  JOURNAL   Sci Data 10 (1), 203 (2023)
   PUBMED   37045861
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5037)
  AUTHORS   Moudi M, Vahidi Mehrjardi MY, Hozhabri H, Metanat Z, Kalantar SM,
            Taheri M, Ghasemi N and Dehghani M.
  TITLE     Novel variants underlying autosomal recessive neurodevelopmental
            disorders with intellectual disability in Iranian consanguineous
            families
  JOURNAL   J Clin Lab Anal 36 (2), e24241 (2022)
   PUBMED   35019165
  REMARK    GeneRIF: Novel variants underlying autosomal recessive
            neurodevelopmental disorders with intellectual disability in Iranian
            consanguineous families.
REFERENCE   3  (bases 1 to 5037)
  AUTHORS   Yang L, Kong D, He M, Gong J, Nie Y, Tai S and Teng CB.
  TITLE     MiR-7 mediates mitochondrial impairment to trigger apoptosis and
            necroptosis in Rhabdomyosarcoma
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1867 (12), 118826 (2020)
   PUBMED   32810522
  REMARK    GeneRIF: MiR-7 mediates mitochondrial impairment to trigger
            apoptosis and necroptosis in Rhabdomyosarcoma.
REFERENCE   4  (bases 1 to 5037)
  AUTHORS   Mir A, Hadab S, Sammak M, Alhazmi R, Housawi Y and Bashir S.
  TITLE     Complete resolution of epileptic spasms with vigabatrin in a patient
            with 3-methylglutaconic aciduria caused by TIMM50 gene mutation
  JOURNAL   Clin Genet 98 (1), 102-103 (2020)
   PUBMED   32369862
  REMARK    GeneRIF: Complete resolution of epileptic spasms with vigabatrin in
            a patient with 3-methylglutaconic aciduria caused by TIMM50 gene
            mutation.
REFERENCE   5  (bases 1 to 5037)
  AUTHORS   Kennedy SA, Jarboui MA, Srihari S, Raso C, Bryan K, Dernayka L,
            Charitou T, Bernal-Llinares M, Herrera-Montavez C, Krstic A,
            Matallanas D, Kotlyar M, Jurisica I, Curak J, Wong V, Stagljar I,
            LeBihan T, Imrie L, Pillai P, Lynn MA, Fasterius E, Al-Khalili
            Szigyarto C, Breen J, Kiel C, Serrano L, Rauch N, Rukhlenko O,
            Kholodenko BN, Iglesias-Martinez LF, Ryan CJ, Pilkington R,
            Cammareri P, Sansom O, Shave S, Auer M, Horn N, Klose F, Ueffing M,
            Boldt K, Lynn DJ and Kolch W.
  TITLE     Extensive rewiring of the EGFR network in colorectal cancer cells
            expressing transforming levels of KRASG13D
  JOURNAL   Nat Commun 11 (1), 499 (2020)
   PUBMED   31980649
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5037)
  AUTHORS   Xu H, Somers ZB, Robinson ML 2nd and Hebert MD.
  TITLE     Tim50a, a nuclear isoform of the mitochondrial Tim50, interacts with
            proteins involved in snRNP biogenesis
  JOURNAL   BMC Cell Biol 6 (1), 29 (2005)
   PUBMED   16008839
  REMARK    GeneRIF: Tim50a, a nuclear isoform of the mitochondrial Tim50,
            interacts with coilin, snRNPs, and SMN Publication Status:
            Online-Only
REFERENCE   7  (bases 1 to 5037)
  AUTHORS   Guo Y, Cheong N, Zhang Z, De Rose R, Deng Y, Farber SA,
            Fernandes-Alnemri T and Alnemri ES.
  TITLE     Tim50, a component of the mitochondrial translocator, regulates
            mitochondrial integrity and cell death
  JOURNAL   J Biol Chem 279 (23), 24813-24825 (2004)
   PUBMED   15044455
  REMARK    GeneRIF: Tim50 is important for both mitochondrial function and
            early neuronal development
REFERENCE   8  (bases 1 to 5037)
  AUTHORS   Yuryev A and Wennogle LP.
  TITLE     Novel raf kinase protein-protein interactions found by an exhaustive
            yeast two-hybrid analysis
  JOURNAL   Genomics 81 (2), 112-125 (2003)
   PUBMED   12620389
REFERENCE   9  (bases 1 to 5037)
  AUTHORS   Yamamoto H, Esaki M, Kanamori T, Tamura Y, Nishikawa Si and Endo T.
  TITLE     Tim50 is a subunit of the TIM23 complex that links protein
            translocation across the outer and inner mitochondrial membranes
  JOURNAL   Cell 111 (4), 519-528 (2002)
   PUBMED   12437925
REFERENCE   10  (bases 1 to 5037)
  AUTHORS   Bauer MF, Gempel K, Reichert AS, Rappold GA, Lichtner P, Gerbitz KD,
            Neupert W, Brunner M and Hofmann S.
  TITLE     Genetic and structural characterization of the human mitochondrial
            inner membrane translocase
  JOURNAL   J Mol Biol 289 (1), 69-82 (1999)
   PUBMED   10339406
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.264753.1,
            SRR1163658.101377.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000607714.6/ ENSP00000475531.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI856163.1, BC050082.1,
            BM463473.1, BU540967.1, AK098197.1, AC011500.7 and BC014674.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001001563.4.
            Summary: This gene encodes a subunit of the TIM23 inner
            mitochondrial membrane translocase complex. The encoded protein
            functions as the receptor subunit that recognizes the mitochondrial
            targeting signal, or presequence, on protein cargo that is destined
            for the mitochondrial inner membrane and matrix. This protein may
            also play a role in maintaining the membrane permeability barrier,
            and knockdown of this gene in human cells results in the release of
            cytochrome c and apoptosis. [provided by RefSeq, Jul 2016].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5037
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..5037
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="translocase of inner mitochondrial membrane 50"
                     /db_xref="GeneID:92609"
                     /db_xref="HGNC:HGNC:23656"
                     /db_xref="MIM:607381"
     CDS             17..1078
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="isoform 1 is encoded by transcript variant 1;
                     homolog of yeast Tim50; Tim50-like protein; mitochondrial
                     import inner membrane translocase subunit TIM50"
                     /codon_start=1
                     /product="mitochondrial import inner membrane translocase
                     subunit TIM50 isoform 1"
                     /protein_id="NP_001001563.2"
                     /db_xref="CCDS:CCDS33023.2"
                     /db_xref="GeneID:92609"
                     /db_xref="HGNC:HGNC:23656"
                     /db_xref="MIM:607381"
                     /translation="MAASAAVFSRLRSGLRLGSRGLCTRLATPPRRAPDQAAEIGSRGS
                     TKAQGPQQQPGSEGPSYAKKVALWLAGLLGAGGTVSVVYIFGNNPVDENGAKIPDEFDN
                     DPILVQQLRRTYKYFKDYRQMIIEPTSPCLLPDPLQEPYYQPPYTLVLELTGVLLHPEW
                     SLATGWRFKKRPGIETLFQQLAPLYEIVIFTSETGMTAFPLIDSVDPHGFISYRLFRDA
                     TRYMDGHHVKDISCLNRDPARVVVVDCKKEAFRLQPYNGVALRPWDGNSDDRVLLDLSA
                     FLKTIALNGVEDVRTVLEHYALEDDPLAAFKQRQSRLEQEEQQRLAELSKSNKQNLFLG
                     SLTSRLWPRSKQP"
     misc_feature    89..196
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3ZCQ8.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    149..151
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q3ZCQ8.2); phosphorylation site"
     misc_feature    212..274
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3ZCQ8.2);
                     transmembrane region"
     misc_feature    1037..1039
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q3ZCQ8.2); phosphorylation site"
     regulatory      1158..1163
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="hexamer: AATAAA"
     polyA_site      1180
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="major polyA site"
     polyA_site      1350
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
     regulatory      2297..2302
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="hexamer: AATAAA"
     polyA_site      2322
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
     regulatory      4258..4263
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="hexamer: ATTAAA"
     polyA_site      4276
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
     regulatory      4301..4306
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="hexamer: ATTAAA"
     polyA_site      4337
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
     regulatory      4385..4390
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="hexamer: ATTAAA"
     polyA_site      4403
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
     polyA_site      4943
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
     regulatory      5017..5022
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
                     /note="hexamer: AATAAA"
     polyA_site      5037
                     /gene="TIMM50"
                     /gene_synonym="MGCA9; TIM50; TIM50L"
ORIGIN
        1 gtggcgtcag cgcaagatgg cggcctcggc agcggtgttc tcgcgcttgc gaagcgggct
       61 ccggctcggc tcgcggggac tgtgcacgag gttggcgacg ccgccccgcc gggccccaga
      121 tcaggccgca gagatcggga gccgcgggag cactaaggcg caagggccac agcagcagcc
      181 gggctcagag ggtcccagct atgccaaaaa agttgcgctc tggcttgctg ggctgcttgg
      241 agctggtggg actgtgagcg tcgtctatat ctttggaaac aacccggtgg acgaaaatgg
      301 tgccaagatt cctgatgagt tcgacaatga tccaattctg gtacagcagt tgcgccggac
      361 atacaaatat ttcaaagatt atagacagat gatcatcgag cccaccagcc cttgccttct
      421 cccagaccct ctgcaggaac cgtactacca gccaccctac acgctcgttt tggagctcac
      481 cggcgtcctc ttgcatcctg agtggtcgct ggccactggc tggaggttta agaagcgccc
      541 aggcatcgag accttgttcc agcagcttgc ccctttatat gaaattgtca tctttacgtc
      601 agagactggc atgactgcgt ttccactcat tgatagtgtg gacccccatg gcttcatctc
      661 ctaccgccta ttccgggacg ccacaagata catggatgga caccatgtaa aggatatttc
      721 atgtctgaat cgggacccag ctcgagtagt agttgtggac tgcaagaagg aagccttccg
      781 cctgcagccc tataacggcg ttgccctgcg gccctgggac ggcaactctg atgaccgggt
      841 cttgttggat ctgtctgcct tcctcaagac cattgcactg aatggtgtgg aggacgtgcg
      901 aaccgtgctg gagcactatg ccctggagga tgacccgctg gcggctttca aacagcggca
      961 aagccggcta gagcaggagg agcagcagcg cctggccgag ctctccaagt ccaacaagca
     1021 gaacctcttc cttggctccc tcaccagccg cttgtggcct cgctccaaac agccctgaac
     1081 tctgggcctc ctcaaactca gtgcctgggt ccagggcccc agtgcttcca gaccaagact
     1141 tgggccacca cttgtccaat aaagtacatc ccagacgcca cacctgctgt gtcccgagag
     1201 tctccagatg ggggcatcag ggtgaggtcc gggactcttg ggtcatcgtc ccacagtggc
     1261 tgatcggctg ccaagcacag tgggggtgct ttgttggatc agagcagatt tttcaccctg
     1321 gtctcggaat ctaaaaaccc tcgctgtgtc ttcctgtgtg ttgcgtgatc tgtgaaaaat
     1381 acatctccct ctgaccacag actcctcatc tgtggagaag ggaagagagg atggcacttg
     1441 gctttaaaga caggtagctg ccaggctact gtggagagaa tgtgttatgg gcctagtggg
     1501 cctctggtgg accagagatt acccctctca acaggccagc tgctggttgg ctccagccag
     1561 tgtggccctg gggtaaaggg ggcctggagt tgcttgacac gccagttgtt caaaagaagc
     1621 aagaacttgg gaatattttt tttttttttt tgagacaggg tctcactgtt gcccaggctg
     1681 gagtgcattg atgtgatctt agcttacaac agccttgacc tcccggctca agtgatctcc
     1741 aagtgaccct cctgcctcag cctcctgagt accctcctgg ggactacagg tgcgtgctac
     1801 catacccagc taatttaaac aaattttttt tttgtagaga tggggtcttg gtgcccaagc
     1861 tggtctcaaa ctcctagtct taagcaatct tcctgctttg gcctcccaaa gcgctaggat
     1921 tccaggtgtg agctactgtg cccagctaaa atagggattt ttatattaaa tctccctatt
     1981 ttaaaatgtt ggctcctagc ggggcgcagt ggctcacgcc tgtaatccca gcactttggg
     2041 aggctgaggt gggtggatca cctgaggtca ggagttcaag accagcctca acatggagaa
     2101 accccatctc tactaaaaat acaaaattag ctgggcgtgg tggagcatgc ctgtgatccc
     2161 agctactcag gaggctgagg caggagaatt gcttgaacct gggaggcgga ggttgtggtg
     2221 agccgagatc gcaccattgc actccagcct gggcaacagc agcgaaactc catctcaaaa
     2281 aataaaataa aataaaaata aaatgttggc ttctaactaa aacaggcaga tatgtagcag
     2341 tgttctccac tggaactttc tgtgatgttt ggttcatgtt ctaggtctgt actgtccagt
     2401 acagtagcca gtggccacat aaacctttgt tttttttttt tgagacggag tttcgctctt
     2461 attgcccagg ctggagtgca atggcacgac gtcggctcac cacatcctcc gcctcccggg
     2521 ttcaagcaat gctcccgcct caacctccca agtagctgag attacaggcg cacaccacca
     2581 cgcccggcta atttttgtat ttttttagta gagacagggt ttcaccatgt tggttaggct
     2641 ggtctcgaac tcctgacctc gtgatccgcc cgcctcggcc tcccaaagtg ctgggattgc
     2701 aggcatgagc caccatgcct ggccccacat aaagtttctg agcacttgaa atgtggctag
     2761 tgtgactgag aaactgaatt tttaattttg tttgagactg ggcacagtgg ctcacgcctg
     2821 taatcctgac actttgggag gccgaagcag gaggattgct tgaatccagg agtacgagac
     2881 caccctgggc aacatggtga aatcctgcct ctaaaaaaaa aacaaagtaa cgagcccagc
     2941 gaggttatgc atacctgtag tcccagctac gtgagaggct gaggtgggag gaatcccttg
     3001 agccaaggag gtcgtgcgtg gctgtgatga tctgtgatcg tgccgctaaa ttctagcctg
     3061 ggcaacagag cgagaccctg tctcaaaaaa aaaaaaaaaa aaaaaaaaac cttaagattt
     3121 ttttttggag tcagggtctc gctgtgtcgc ccaggctgga gcacagtggt gtaactatag
     3181 ctcactgcag tgttgaactt ctgggctcaa acaatcttcc tgccttggcc tccccaaatg
     3241 ctgagattat aggagtgagc cactctgccc aactactttt aattaaatag ccacatgtgt
     3301 ctcctgtatt gacagtacca ctgtgtatta agagtatgag tcccagattg tgtaagttca
     3361 aatccaagct ctaccacttc tcggctggct tgtgatcctg tgcaagttac tttacctctc
     3421 agtgcctcgg tttctacatt tataaaataa taactgggca ggcacagtgg ctcatggctg
     3481 tcatcccaac acttcaggag gccgaggtgg gaggatcgcc tgaggccagg agttggagag
     3541 cagcctgggc aacatgggaa gagcctgtct cttgcggggg ggggagaaga aagttcttgt
     3601 ctcaggctag ctttggggac caaatgaagc actcccatgt aggcactcaa atggaactat
     3661 gtaaacctta ggcaaggcac ctctgcctca gtttcctcat ctctaaaatg gggtgatggt
     3721 agtatgttag cagagtggtt gtgaggagtg aacgggacag tccgtatgtg ggttatatgt
     3781 atatattccc aggtgcttgc tgttaccagg ccatatgggt tattcacaga ttgaaatatc
     3841 ttagctgggc acggtggctc acccctataa tcccagcact ttgggagacc gaggcgggtg
     3901 gatcacctga ggtcaggagt tcgagaccag cctggccaac atggtgaaac cctgtctcta
     3961 ctaaaaaaat acaaataaat tagctgggca tggtggtggg tgcctgtaat cccagctact
     4021 tgggaggctg aggcaggaga atcgattaaa cccaggaggc agaggttgca gtgagctgag
     4081 atcacaccat tgcactccag cctgggcgac agagtaaggc tctgtctcca aaaaaaaaaa
     4141 aaaaaaaaaa caaaaaaaaa accagtttga ctttatctcc ctcgccctgc ctccatcccc
     4201 acattgcccc ccactatccc agtctctcct actccagcct tcatctagtg ctaactgatt
     4261 aaatattcta agatgacctt ctctggtgtg tgtgatgata attaaaaggc attcagaact
     4321 gtgtggacca gactgaacct ctgcactcta gatttttttt tttttgaagc ctctacaaag
     4381 gataattaaa atttacacca tgactctttg tcctggggtg cactgtctgt aagccggtgg
     4441 agttatttcc caaaatcctt ggtccttccc agcttgagga agtctgcagg actgagggag
     4501 gggacctgtg cttttttttt tgtttttttg agatggagtc tctgttgccc aggctggagt
     4561 gcagtggggc gatctcggct cactgcaccc tgcacctcct gggttcaagt gattctcctg
     4621 cctcaggctc ccaagtagct gggattacag gcgtgtgcca ctgtcaggcc tctgagccca
     4681 agccaagcca tcgcatcccc tgtgccttgc acatatacac ccagatggcc tgaagtaact
     4741 gaagaatcac aaaagaagtg aaaaggccct gccccgcctt aactgatgac attccaccat
     4801 tgtgatttgt tcctgcccca ccttaactga gtgattaacc ctgcaaattt ccttctcctg
     4861 gctcagaagc acccccactg agcaccttgc gaccccccac tcctgcccgc cctttgactg
     4921 taattttcca ttaccttccc aaatactata aaacagcccc acccctatct cccttcgctg
     4981 actcttttcg gactcagccc acctgcaccc aggtgaaata aacagcttta ttgctca
//
LOCUS       NM_001001656            2018 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 9 subfamily A member 4
            (OR9A4), mRNA.
ACCESSION   NM_001001656
VERSION     NM_001001656.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2018)
  AUTHORS   Wade TD, Gordon S, Medland S, Bulik CM, Heath AC, Montgomery GW and
            Martin NG.
  TITLE     Genetic variants associated with disordered eating
  JOURNAL   Int J Eat Disord 46 (6), 594-608 (2013)
   PUBMED   23568457
REFERENCE   2  (bases 1 to 2018)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641559.1/ ENSP00000493151.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073647.9.
            On Jul 21, 2020 this sequence version replaced NM_001001656.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2018
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..2018
                     /gene="OR9A4"
                     /note="olfactory receptor family 9 subfamily A member 4"
                     /db_xref="GeneID:130075"
                     /db_xref="HGNC:HGNC:15095"
     misc_feature    266..268
                     /gene="OR9A4"
                     /note="upstream in-frame stop codon"
     CDS             269..1213
                     /gene="OR9A4"
                     /note="olfactory receptor OR7-1"
                     /codon_start=1
                     /product="olfactory receptor 9A4"
                     /protein_id="NP_001001656.1"
                     /db_xref="CCDS:CCDS43661.1"
                     /db_xref="GeneID:130075"
                     /db_xref="HGNC:HGNC:15095"
                     /translation="MLMNYSSATEFYLLGFPGSEELHHILFAIFFFFYLVTLMGNTVII
                     MIVCVDKRLQSPMYFFLGHLSALEILVTTIIVPVMLWGLLLPGMQTIYLSACVVQLFLY
                     LAVGTTEFALLGAMAVDRYVAVCNPLRYNIIMNRHTCNFVVLVSWVFGFLFQIWPVYVM
                     FQLTYCKSNVVNNFFCDRGQLLKLSCNNTLFTEFILFLMAVFVLFGSLIPTIVSNAYII
                     STILKIPSSSGRRKSFSTCASHFTCVVIGYGSCLFLYVKPKQTQAADYNWVVSLMVSVV
                     TPFLNPFIFTLRNDKVIEALRDGVKRCCQLFRN"
     misc_feature    278..280
                     /gene="OR9A4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGU2.1); glycosylation site"
     misc_feature    341..403
                     /gene="OR9A4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGU2.1);
                     transmembrane region"
     misc_feature    428..490
                     /gene="OR9A4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGU2.1);
                     transmembrane region"
     misc_feature    566..628
                     /gene="OR9A4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGU2.1);
                     transmembrane region"
     misc_feature    686..748
                     /gene="OR9A4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGU2.1);
                     transmembrane region"
     misc_feature    836..838
                     /gene="OR9A4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGU2.1); glycosylation site"
     misc_feature    860..919
                     /gene="OR9A4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGU2.1);
                     transmembrane region"
     misc_feature    980..1042
                     /gene="OR9A4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGU2.1);
                     transmembrane region"
     misc_feature    1082..1144
                     /gene="OR9A4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGU2.1);
                     transmembrane region"
ORIGIN
        1 gagagaagga agcaaagaga aggagagaga tagagacagt tggactctct cctcagcact
       61 cgtatttctg gacttttgca taagcttctg tatgaggaca gtatccttca ctctgaatgg
      121 agacagaagc agctgttcct gtctcctgag catagctcag cactaggtga gcgagagata
      181 gcctgggctg gtccctgggg agcagtagaa ctttccagtc caggctgctt ctccggagat
      241 ttcacaagga acaagggctt agaactaaat gttgatgaat tactctagtg ccactgaatt
      301 ttatctcctt ggcttccctg gctctgaaga actacatcat atcctttttg ctatattctt
      361 ctttttctac ttggtgacat taatgggaaa cacagtcatc atcatgattg tctgtgtgga
      421 taaacgtctg cagtccccca tgtatttctt cctcggccac ctctctgccc tggagatcct
      481 ggtcacaacc ataatcgtcc ccgtgatgct ttggggattg ctgctccctg ggatgcagac
      541 aatatatttg tctgcctgtg ttgtccagct cttcttgtac cttgctgtgg ggacaacaga
      601 gttcgcatta cttggagcaa tggctgtgga ccgttatgtg gctgtctgta accctctgag
      661 gtacaacatc attatgaaca gacacacctg caactttgtg gttcttgtgt catgggtgtt
      721 tgggtttctt tttcaaatct ggccggtcta tgtcatgttt cagcttactt actgcaaatc
      781 aaatgtggtg aacaattttt tttgtgaccg agggcaattg ctcaaactat cctgcaataa
      841 tactcttttc acggagttta tcctcttctt aatggctgtt tttgttctct ttggttcttt
      901 gatccctaca attgtctcca acgcctacat catctccacc attctcaaga tcccgtcatc
      961 ctctggccgg aggaaatcct tctccacttg tgcctcccac ttcacctgtg ttgtgattgg
     1021 ctacggcagc tgcttgtttc tctacgtgaa acccaagcaa acgcaggcag ctgattacaa
     1081 ttgggtagtt tccctgatgg tttcagtagt aactcctttc ctcaatcctt tcatcttcac
     1141 cctccggaat gataaagtca tagaggccct tcgggatggg gtgaaacgct gctgtcaact
     1201 attcaggaat tagccttgct ctgaggactt ttacatggta aagcacttag tatggattct
     1261 agaataatct gaaaagaact tgctcatctt tgaactgcat cataattatt gccattatca
     1321 aatgatttgc atgcaacaaa atacttttaa gttacagcta cggtttttag tatgcttagt
     1381 tgttacttga aactcagtct attattttta agacatgtct tgctatctag ctatctatct
     1441 atcatctgcc tttcttaaga tatgatgatt tcacaattaa actttgaaaa attaaatgtc
     1501 agagatagac tatctatata gtctagaaaa tagactagtg gttgcttagg gctgagggga
     1561 atgcagacat agggtagtga tagctatggg gtacaggctt tctttttgaa atgatggttg
     1621 taaatatcta tgaatatacc aaaaatcatt gaactataca ttttcaatga gtcaacttta
     1681 tggaatgtga tttatatttc aataaagctt ttgaaaatag tatattagat catgaagaag
     1741 tattgtgaag aaaagtgaaa caggaatgaa agggaatatc tcttgcagga gtgttgaaat
     1801 ttcaaataag gttttcaggg aaggattgag agaggtaagg tggtgataca ttcggaaact
     1861 tgttaaagaa cattccaggc atagtgagta ataagtgaga gatcctaggg aaggcataac
     1921 aaagatgctg aaatggagtg tgcagaggag aaagcaatgg cagtcagagt ggtaactgga
     1981 atgcagacca tgtagagcct tgtgagcctt tttttttt
//
LOCUS       NM_001001657             936 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily Y member 1
            (OR2Y1), mRNA.
ACCESSION   NM_001001657
VERSION     NM_001001657.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 936)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 936)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307832.3/ ENSP00000312403.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065676.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     gene            1..936
                     /gene="OR2Y1"
                     /gene_synonym="OR5-2"
                     /note="olfactory receptor family 2 subfamily Y member 1"
                     /db_xref="GeneID:134083"
                     /db_xref="HGNC:HGNC:14837"
     CDS             1..936
                     /gene="OR2Y1"
                     /gene_synonym="OR5-2"
                     /note="olfactory receptor OR5-2"
                     /codon_start=1
                     /product="olfactory receptor 2Y1"
                     /protein_id="NP_001001657.1"
                     /db_xref="CCDS:CCDS34323.1"
                     /db_xref="GeneID:134083"
                     /db_xref="HGNC:HGNC:14837"
                     /translation="MGSFNTSFEDGFILVGFSDWPQLEPILFVFIFIFYSLTLFGNTII
                     IALSWLDLRLHTPMYFFLSHLSLLDLCFTTSTVPQLLINLCGVDRTITRGGCVAQLFIY
                     LALGSTECVLLVVMAFDRYAAVCRPLHYMAIMHPHLCQTLAIASWGAGFVNSLIQTGLA
                     MAMPLCGHRLNHFFCEMPVFLKLACADTEGTEAKMFVARVIVVAVPAALILGSYVHIAH
                     AVLRVKSTAGRRKAFGTCGSHLLVVFLFYGSAIYTYLQSIHNYSEREGKFVALFYTIIT
                     PILNPLIYTLRNKDVKGALWKVLWRGRDSG"
     misc_feature    13..15
                     /gene="OR2Y1"
                     /gene_synonym="OR5-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGV0.1); glycosylation site"
     misc_feature    76..147
                     /gene="OR2Y1"
                     /gene_synonym="OR5-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGV0.1);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR2Y1"
                     /gene_synonym="OR5-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGV0.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR2Y1"
                     /gene_synonym="OR5-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGV0.1);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR2Y1"
                     /gene_synonym="OR5-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGV0.1);
                     transmembrane region"
     misc_feature    583..654
                     /gene="OR2Y1"
                     /gene_synonym="OR5-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGV0.1);
                     transmembrane region"
     misc_feature    706..774
                     /gene="OR2Y1"
                     /gene_synonym="OR5-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGV0.1);
                     transmembrane region"
     misc_feature    790..792
                     /gene="OR2Y1"
                     /gene_synonym="OR5-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGV0.1); glycosylation site"
     misc_feature    814..873
                     /gene="OR2Y1"
                     /gene_synonym="OR5-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGV0.1);
                     transmembrane region"
ORIGIN
        1 atgggaagtt tcaacaccag ttttgaagat ggcttcattt tggtgggatt ctcagattgg
       61 ccgcaactgg agcccatcct gtttgtcttt atttttattt tctactccct aactctcttt
      121 ggcaacacca tcatcatcgc tctctcctgg ctagaccttc ggctgcacac acctatgtac
      181 ttctttctct ctcatctgtc cctcctggac ctctgcttca ccaccagcac cgtgccccag
      241 ctcctgatca acctttgcgg ggtggaccgc accatcaccc gtggagggtg tgtggctcag
      301 ctcttcatct acctagccct gggctccaca gagtgtgtgc tcctggtggt gatggccttt
      361 gaccgctatg ctgctgtctg tcgtccactc cactacatgg ccatcatgca cccccatctc
      421 tgccagaccc tggctatcgc ctcctggggt gcgggtttcg tgaactctct gatccagaca
      481 ggtctcgcaa tggccatgcc tctctgtggc catcgactga atcacttctt ctgtgagatg
      541 cctgtatttc tgaagttggc ttgtgcggac acagaaggaa cagaggccaa gatgtttgtg
      601 gcccgagtca tagtcgtggc tgttcctgca gcacttattc taggctccta tgtgcacatt
      661 gctcatgcag tgctgagggt gaagtcaacg gctgggcgca gaaaggcttt tgggacttgt
      721 gggtcccacc tcctagtagt tttccttttt tatggctcag ccatctacac atatctccaa
      781 tccatccaca attattctga gcgtgaggga aaatttgttg ccctttttta tactataatt
      841 acccccattc tcaatcctct catttataca ctaagaaaca aggacgtgaa gggggctctg
      901 tggaaagtac tatggagggg cagggactca gggtag
//
LOCUS       NM_001001658             933 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 9 subfamily A member 2
            (OR9A2), mRNA.
ACCESSION   NM_001001658
VERSION     NM_001001658.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 933)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 933)
  AUTHORS   Gilad Y, Bustamante CD, Lancet D and Paabo S.
  TITLE     Natural selection on the olfactory receptor gene family in humans
            and chimpanzees
  JOURNAL   Am J Hum Genet 73 (3), 489-501 (2003)
   PUBMED   12908129
REFERENCE   3  (bases 1 to 933)
  AUTHORS   Vanti WB, Nguyen T, Cheng R, Lynch KR, George SR and O'Dowd BF.
  TITLE     Novel human G-protein-coupled receptors
  JOURNAL   Biochem Biophys Res Commun 305 (1), 67-71 (2003)
   PUBMED   12732197
  REMARK    GeneRIF: This publication uses 'GPR139' as a name for this gene.
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000350513.3/ ENSP00000316518.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065696.1.
            On or before Aug 30, 2004 this sequence version replaced
            XM_069609.6, XM_380055.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..933
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..933
                     /gene="OR9A2"
                     /note="olfactory receptor family 9 subfamily A member 2"
                     /db_xref="GeneID:135924"
                     /db_xref="HGNC:HGNC:15093"
     CDS             1..933
                     /gene="OR9A2"
                     /note="olfactory receptor OR7-2"
                     /codon_start=1
                     /product="olfactory receptor 9A2"
                     /protein_id="NP_001001658.1"
                     /db_xref="CCDS:CCDS34767.1"
                     /db_xref="GeneID:135924"
                     /db_xref="HGNC:HGNC:15093"
                     /translation="MMDNHSSATEFHLLGFPGSQGLHHILFAIFFFFYLVTLMGNTVII
                     VIVCVDKRLQSPMYFFLSHLSTLEILVTTIIVPMMLWGLLFLGCRQYLSLHVSLNFSCG
                     TMEFALLGVMAVDRYVAVCNPLRYNIIMNSSTCIWVVIVSWVFGFLSEIWPIYATFQFT
                     FRKSNSLDHFYCDRGQLLKLSCDNTLLTEFILFLMAVFILIGSLIPTIVSYTYIISTIL
                     KIPSASGRRKAFSTFASHFTCVVIGYGSCLFLYVKPKQTQGVEYNKIVSLLVSVLTPFL
                     NPFIFTLRNDKVKEALRDGMKRCCQLLKD"
     misc_feature    10..12
                     /gene="OR9A2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGT5.1); glycosylation site"
     misc_feature    73..135
                     /gene="OR9A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT5.1);
                     transmembrane region"
     misc_feature    160..222
                     /gene="OR9A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT5.1);
                     transmembrane region"
     misc_feature    406..468
                     /gene="OR9A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT5.1);
                     transmembrane region"
     misc_feature    580..639
                     /gene="OR9A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT5.1);
                     transmembrane region"
     misc_feature    700..762
                     /gene="OR9A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT5.1);
                     transmembrane region"
     misc_feature    802..864
                     /gene="OR9A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT5.1);
                     transmembrane region"
ORIGIN
        1 atgatggaca accactctag tgccactgaa ttccaccttc taggcttccc tgggtcccaa
       61 ggactacacc acattctttt tgctatattc tttttcttct atttagtgac attaatggga
      121 aacacggtca tcattgtgat tgtctgtgtg gataaacgtc tgcagtcccc catgtatttc
      181 ttcctcagcc acctctctac cctggagatc ctggtcacaa ccataattgt ccccatgatg
      241 ctttggggat tgctcttcct gggatgcaga cagtatcttt ctctacatgt atcgctcaac
      301 ttttcctgtg ggaccatgga gtttgcatta cttggagtga tggctgtgga ccgttatgtg
      361 gctgtgtgta accctttgag gtacaacatc attatgaaca gcagtacctg tatttgggtg
      421 gtaatagtgt catgggtgtt tggatttctt tctgaaatct ggcccatcta tgccacattt
      481 cagtttacct tccgcaaatc aaattcatta gaccattttt actgtgaccg agggcaattg
      541 ctcaaactgt cctgcgataa cactcttctc acagagttta tccttttctt aatggctgtt
      601 tttattctca ttggttcttt gatccctacg attgtctcct acacctacat tatctccacc
      661 atcctcaaga tcccgtcagc ctctggccgg aggaaagcct tctccacttt tgcctcccac
      721 ttcacctgtg ttgtgattgg ctatggcagc tgcttgtttc tctacgtgaa acccaagcaa
      781 acacagggag ttgagtacaa taagatagtt tccctgttgg tttctgtgtt aacccccttc
      841 ctgaatcctt tcatctttac tcttcggaat gacaaagtca aagaggccct ccgagatggg
      901 atgaaacgct gctgtcaact cctgaaagat tag
//
LOCUS       NM_001001659            2199 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily A member 14
            (OR2A14), mRNA.
ACCESSION   NM_001001659
VERSION     NM_001001659.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2199)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 2199)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641068.1/ ENSP00000493353.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC091768.4.
            On Jul 22, 2020 this sequence version replaced NM_001001659.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2199
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q35"
     gene            1..2199
                     /gene="OR2A14"
                     /gene_synonym="OR2A14P; OR2A6; OST182"
                     /note="olfactory receptor family 2 subfamily A member 14"
                     /db_xref="GeneID:135941"
                     /db_xref="HGNC:HGNC:15084"
     misc_feature    61..63
                     /gene="OR2A14"
                     /gene_synonym="OR2A14P; OR2A6; OST182"
                     /note="upstream in-frame stop codon"
     CDS             124..1056
                     /gene="OR2A14"
                     /gene_synonym="OR2A14P; OR2A6; OST182"
                     /note="olfactory receptor, family 2, subfamily A, member 14
                     pseudogene; olfactory receptor, family 2, subfamily A,
                     member 6; olfactory receptor OR7-12; olfactory receptor
                     2A6"
                     /codon_start=1
                     /product="olfactory receptor 2A14"
                     /protein_id="NP_001001659.1"
                     /db_xref="CCDS:CCDS43672.1"
                     /db_xref="GeneID:135941"
                     /db_xref="HGNC:HGNC:15084"
                     /translation="MEGNKTWITDITLPRFQVGPALEILLCGLFSAFYTLTLLGNGVIF
                     GIICLDCKLHTPMYFFLSHLAIVDISYASNYVPKMLTNLMNQESTISFFPCIMQTFLYL
                     AFAHVECLILVVMSYDRYADICHPLRYNSLMSWRVCTVLAVASWVFSFLLALVPLVLIL
                     SLPFCGPHEINHFFCEILSVLKLACADTWLNQVVIFAACVFILVGPLCLVLVSYLRILA
                     AILRIQSGEGRRKAFSTCSSHLCVVGLFFGSAIVTYMAPKSRHPEEQQKVLSLFYSLFN
                     PMLNPLIYSLRNAEVKGALRRALRKERLT"
     misc_feature    133..135
                     /gene="OR2A14"
                     /gene_synonym="OR2A14P; OR2A6; OST182"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96R47.4); glycosylation site"
     misc_feature    196..267
                     /gene="OR2A14"
                     /gene_synonym="OR2A14P; OR2A6; OST182"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R47.4);
                     transmembrane region"
     misc_feature    292..357
                     /gene="OR2A14"
                     /gene_synonym="OR2A14P; OR2A6; OST182"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R47.4);
                     transmembrane region"
     misc_feature    421..480
                     /gene="OR2A14"
                     /gene_synonym="OR2A14P; OR2A6; OST182"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R47.4);
                     transmembrane region"
     misc_feature    538..594
                     /gene="OR2A14"
                     /gene_synonym="OR2A14P; OR2A6; OST182"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R47.4);
                     transmembrane region"
     misc_feature    706..777
                     /gene="OR2A14"
                     /gene_synonym="OR2A14P; OR2A6; OST182"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R47.4);
                     transmembrane region"
     misc_feature    829..897
                     /gene="OR2A14"
                     /gene_synonym="OR2A14P; OR2A6; OST182"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R47.4);
                     transmembrane region"
     misc_feature    937..996
                     /gene="OR2A14"
                     /gene_synonym="OR2A14P; OR2A6; OST182"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R47.4);
                     transmembrane region"
ORIGIN
        1 cccagtctat ccattctgcc tttcctgtct ttgaggttcc tagcaagccc aagggtatgt
       61 tagaagaaaa gaccacagat tattgtactc tctgaccttc ctgtcctaga tgtccacaag
      121 agcatggaag gcaacaagac atggatcaca gacatcacct tgccgcgatt ccaggttggt
      181 ccagcactgg agattctcct ctgtggactt ttctctgcct tctatacact caccctgctg
      241 gggaatgggg tcatctttgg gattatctgc ctggactgta agcttcacac acccatgtac
      301 ttcttcctct cacacctggc cattgttgac atatcctatg cttccaacta tgtccccaag
      361 atgctgacga atcttatgaa ccaggaaagc accatctcct tttttccatg cataatgcag
      421 acattcttgt atttggcttt tgctcacgta gagtgtctga ttttggtggt gatgtcctat
      481 gatcgctatg cggacatctg ccacccctta cgttacaata gcctcatgag ctggagagtg
      541 tgcactgtcc tggctgtggc ttcctgggtg ttcagcttcc tcctggctct ggtcccttta
      601 gttctcatcc tgagcctgcc cttctgcggg cctcatgaaa tcaaccactt cttctgtgaa
      661 atcctgtctg tcctcaagtt ggcctgtgct gacacctggc tcaaccaggt ggtcatcttt
      721 gcagcctgcg tgttcatcct ggtggggcca ctctgcctgg tgctggtctc ctacttgcgc
      781 atcctggccg ccatcttgag gatccagtct ggggagggcc gcagaaaggc cttctccacc
      841 tgctcctccc acctttgcgt ggtgggactc ttctttggca gcgccattgt cacgtacatg
      901 gcccccaagt cccgccatcc tgaggagcag cagaaagttc tttccctgtt ttacagcctt
      961 ttcaatccaa tgctgaaccc cctgatatat agcctaagga atgcagaggt caagggcgcc
     1021 ctgaggaggg cactgaggaa ggagaggctg acgtgagaca tctcaaaggg aaccatgggg
     1081 agggagcctt gctccctgca aaatatagaa gttggctttt tttttttgtc ttctgctaga
     1141 ataaatgcta ccttaaactg gaatactata gacctataca tataaactga agacacaaat
     1201 cttttagaaa agataggtaa atgcatttat aatactggat aggcataaat tcataaagaa
     1261 gacacaaaag tccctagata taaaattttt aagttcgata aatataggac ctcttcacat
     1321 taatcattgt gctcatcaaa gtcaccatta agaaagaaga aatgcaagcc acaaaccaag
     1381 tgatcgtatg gaaactacat gtacccagaa atggaactat tgttcataca gtacatagaa
     1441 agaactcctt taaatcagca ataaaaaata taaacaacca aattttataa aattagcaaa
     1501 acatgtgaac atatactctt acagaaaata caaggggctg ataaacatac aaatgctgct
     1561 ttccaccatt agtaagcaag gaattgtaaa ttaaaaccac catgagatac tattatatac
     1621 ccactaagat gtctgaaatt tttaatggct tatttatcat tgaggttatt ggaaatctat
     1681 ttctaatatt ggaaatggtc gatactagca gagtttgtgc caatagtagc caagtcacat
     1741 tgagttaaca ggagcatagt acacatcctc aagatcaata attagtgaca cttcctgtga
     1801 agatacacag gttaatgctt aaggctttga gggccatctt ctgcgtcaaa acaactcaac
     1861 tctgacaaaa gcagccatag acaatgtgta aacaaatggg tgtgcccgtg ttccaataaa
     1921 actttatttg taaaaacagg tggctgctgg aatggtgccc agggacagta gtttgtgaac
     1981 ccttgttcta gatcttaaaa ctagcatagt tccagctgat cccactttag agaccctcac
     2041 tgggtggggc ctcagggagc atgtgattag acatgtcttg cagtcaaatt cctgtgatca
     2101 cattgtactt acttgagagt gagacttttc ctcctttgac actttctaaa atatgccatg
     2161 actcaatagc cagtggactg taaatattca tggtttctc
//
LOCUS       NM_001001660            1242 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens electron transfer flavoprotein regulatory factor 1
            (ETFRF1), mRNA.
ACCESSION   NM_001001660
VERSION     NM_001001660.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1242)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1242)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1242)
  AUTHORS   Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET,
            Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK, Ulbrich
            A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS, Rensvold
            JW, Taylor RW, Prokisch H, Kim JP, Coon JJ and Pagliarini DJ.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   4  (bases 1 to 1242)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer
            JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BQ435595.1, BG496484.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381356.9/ ENSP00000370761.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG771497.1, BC071769.1, AC092794.10, BC100276.1 and DA502833.1.
            On Jul 1, 2019 this sequence version replaced NM_001001660.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1242
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.1"
     gene            1..1242
                     /gene="ETFRF1"
                     /gene_synonym="LYRM5"
                     /note="electron transfer flavoprotein regulatory factor 1"
                     /db_xref="GeneID:144363"
                     /db_xref="HGNC:HGNC:27052"
     misc_feature    136..138
                     /gene="ETFRF1"
                     /gene_synonym="LYRM5"
                     /note="upstream in-frame stop codon"
     CDS             139..411
                     /gene="ETFRF1"
                     /gene_synonym="LYRM5"
                     /note="LYR motif-containing protein 5; LYR motif containing
                     5"
                     /codon_start=1
                     /product="electron transfer flavoprotein regulatory factor
                     1"
                     /protein_id="NP_001001660.2"
                     /db_xref="CCDS:CCDS53764.1"
                     /db_xref="GeneID:144363"
                     /db_xref="HGNC:HGNC:27052"
                     /translation="MKMANSLRGEVLKLYKNLLYLGRDYPKGADYFKKRLKNIFLKNKD
                     VKNPEKIKELIAQGEFVMKELEALYFLRKYRAMKQRYYSDTNKTN"
     regulatory      1092..1097
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFRF1"
                     /gene_synonym="LYRM5"
                     /note="hexamer: AATAAA"
     regulatory      1100..1105
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFRF1"
                     /gene_synonym="LYRM5"
                     /note="hexamer: AATAAT"
     polyA_site      1114
                     /gene="ETFRF1"
                     /gene_synonym="LYRM5"
                     /note="major polyA site"
     polyA_site      1129
                     /gene="ETFRF1"
                     /gene_synonym="LYRM5"
     regulatory      1216..1221
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETFRF1"
                     /gene_synonym="LYRM5"
                     /note="hexamer: AATAAA"
     polyA_site      1242
                     /gene="ETFRF1"
                     /gene_synonym="LYRM5"
ORIGIN
        1 actgacaggt tgcccacctc ccccaacgcc accccgcttc gcagtagacg gacagaggag
       61 tcgtagcggt cgaggctttt gcggctccgg cgtgccggaa agtatgttat gcataaaagt
      121 ggataattta catgataaat gaaaatggcc aattctttaa gaggagaagt actaaaactt
      181 tataaaaatc tgctgtatct tggacgagac tatccaaaag gagcagacta ttttaaaaag
      241 cgtttgaaga acattttcct taaaaacaaa gatgtgaaga atccagagaa gatcaaagaa
      301 cttattgcac agggcgaatt tgtaatgaaa gagctagaag ctttgtactt ccttaggaaa
      361 tacagagcta tgaaacaacg ctattattca gataccaaca aaactaattg atcattacta
      421 ctttaattta gctatcagtg ccagctgttt atgtatacca gatgttgtaa aataattcta
      481 acttaaaatg ggaagatata catgttgtgt aaaaaatccc tgagctgccc tactgaacta
      541 aataggtttc aacttctgtt catacggaga aagtatcagc aactttatgc tcaattttga
      601 tacaaacata gcaatttagc tatactaccg atcataaatt aatgagcacc caattttgaa
      661 tgaaaatata atacacttaa tcctctaact taataggact tagccaatta tttttagctt
      721 atttctccat tttactgaca agagaatgcc atttaccgaa catttaataa gcaaaataat
      781 ttcttacaca cttacttctc ttaacttttg aaaggaatcc cttatttttt cacccaattt
      841 ggtatattaa cagcacatac tcaaggttca ctacaaaaca aacagttcct ggtaatgatt
      901 taaatgtagt tatagaaata aataatatgt atggagtcat tacttctgac cttgaaatag
      961 cctgctggtg actggcatta acatacataa ctaactattc aattatttcc attattaatg
     1021 ttgctgctgc tacctttggg cctaaaacca agtcacctgt tgtgtatcaa ttaccttctt
     1081 tgataaaagg aaataaataa ataatgttat cctatttttt tgtcataaag gcagatttgt
     1141 tttgcatcta cttctaaata tggttttaag tttaagcaaa cacgccttta cataatatcc
     1201 acagcacctt ttagaaataa aggatacttc taacaagctg ca
//
LOCUS       NM_001001661            3198 bp    mRNA    linear   PRI 29-AUG-2021
DEFINITION  Homo sapiens zinc finger protein 425 (ZNF425), mRNA.
ACCESSION   NM_001001661
VERSION     NM_001001661.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3198)
  AUTHORS   Wang Y, Ye X, Zhou J, Wan Y, Xie H, Deng Y, Yan Y, Li Y, Fan X, Yuan
            W, Mo X and Wu X.
  TITLE     A novel human KRAB-related zinc finger gene ZNF425 inhibits
            mitogen-activated protein kinase signaling pathway
  JOURNAL   BMB Rep 44 (1), 58-63 (2011)
   PUBMED   21266108
  REMARK    GeneRIF: Over-expression of ZNF425 inhibits the transcriptional
            activities of SRE, AP-1, and SRF. Deletion analysis indicates that
            the C2H2 domain is the main region responsible for the repression.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY621067.1, SRR1660809.107645.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378061.7/ ENSP00000367300.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073422.8 and AY621067.1.
            On Nov 22, 2018 this sequence version replaced NM_001001661.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3198
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..3198
                     /gene="ZNF425"
                     /note="zinc finger protein 425"
                     /db_xref="GeneID:155054"
                     /db_xref="HGNC:HGNC:20690"
                     /db_xref="MIM:619507"
     CDS             112..2370
                     /gene="ZNF425"
                     /codon_start=1
                     /product="zinc finger protein 425"
                     /protein_id="NP_001001661.1"
                     /db_xref="CCDS:CCDS34773.1"
                     /db_xref="GeneID:155054"
                     /db_xref="HGNC:HGNC:20690"
                     /db_xref="MIM:619507"
                     /translation="MAEPASVTVTFDDVALYFSEQEWEILEKWQKQMYKQEMKTNYETL
                     DSLGYAFSKPDLITWMEQGRMLLISEQGCLDKTRRTTSPPTDEQLNMKNTGKLLCFDDE
                     GTPRTKEEDCRLNGPQKQDLCAALRGKERKILLAQTATFQSPSLRETEILNKKVSITAY
                     DPDKKDLRHKPRETPGRLEIPTGPRCYSCYVCRKVFQVRRDLLKHKRSHSKSQLCRYPK
                     YKNSSRGKSELRRTQRLLCQKKRFQCSECEKSYFLKGSLVTHQVVHTGQRPYPCPECDK
                     TFRYRANLKKHLCLHRGERPFCCGECGRAFVQQCELTEHLRLHSGEKPFQCPQCDRCFR
                     LKRGMKVHLTQHSGKRPFHCPECGRSFSRKAALKTHQRTHSEEKPFSCGECGRKFIYKI
                     KLDEHIRVHTGEKPFSCPECNKSFRLKRSLKAHGLQHIGKRPFQCPECSRGFFWRNAMR
                     AHQRLHSEQKPFPCAECGKRFTRPSKLACHTRVHDRQKEFPCGECKKTFSQQSRLTQHL
                     KVHTTEKPFSCAECGRSFRRRAHLTEHTRLHSGEEPFQCPECDKSFSWKASMKFHQRMH
                     RDEKPFACGECDKTYTHQSQLTEHLRLHSGEKPYQCPECEKTFRLKGNLKSHLLQHSGQ
                     KPFSCVMCGKSFTQQYRLTEHIRVHSGEKPFQCPECDKSYCIRGSLKVHLYKHSGERPF
                     QCPECGKGFLQKRSLKAHLCLHSGERPFSCDECGRSFTYVGALKTHIAVHAKEKPSSL"
     regulatory      3166..3171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF425"
                     /note="hexamer: AATAAA"
     polyA_site      3198
                     /gene="ZNF425"
                     /note="major polyA site"
ORIGIN
        1 gcgcccggcc ggctctgcct ttgggggcca gcagggctgt acctgggagt tgggttgggg
       61 cggagcggag gggaggccgt gccaggcagg gccggttcgt gcggaaccgc catggccgag
      121 ccggcttcgg taactgtgac atttgatgat gtggccttat atttttcgga acaagagtgg
      181 gagatcctgg agaagtggca gaagcaaatg tataagcaag agatgaagac caattacgag
      241 acccttgatt ccctggggta tgctttttcc aagccagatt tgatcacatg gatggaacaa
      301 gggagaatgc tattaatcag cgaacaggga tgcttagata aaacaagaag gacaactagc
      361 cctcctactg atgaacagtt gaacatgaag aatactggaa agttgctatg ttttgatgac
      421 gaaggaactc ccaggacaaa agaagaggat tgccgtttaa atggtcctca aaaacaggac
      481 ttgtgtgctg ccttacgagg gaaagagaga aagattttat tagctcaaac agccaccttc
      541 cagtctccaa gtctccgaga aacagagatt ctaaataaaa aagtcagcat cacagcatat
      601 gatccagaca agaaagacct gcggcataag cctcgggaga ccccagggcg cttagaaatt
      661 cccacagggc caagatgcta ttcctgctat gtctgtagga aagtcttcca agtaaggagg
      721 gatttgctaa agcacaaacg gagccactcc aagagccagc tctgcagata cccaaagtac
      781 aaaaactcgt ccagagggaa gtccgaactc aggcggacgc agaggctcct gtgtcagaag
      841 aagcggttcc agtgcagtga gtgtgagaag agctacttcc tgaagggcag cctcgtcact
      901 catcaggttg tccacaccgg ccagcggccc tacccatgcc ctgagtgcga caagaccttc
      961 cggtacaggg ccaacctgaa gaagcacctg tgtctacacc gcggggagcg gccgttctgc
     1021 tgcggggagt gcggccgggc cttcgtgcag cagtgcgagc tcacggagca cttgcggctg
     1081 cacagcggag agaagccctt ccagtgtccg cagtgtgacc ggtgcttccg cctgaagagg
     1141 ggcatgaagg tccatctgac ccagcacagc gggaagaggc ccttccactg tcccgagtgt
     1201 ggccggagct tctcccggaa ggctgccctg aagacccacc agaggacgca cagcgaggaa
     1261 aagccgtttt cttgtggtga atgtggcagg aaattcatct acaagattaa gctggacgag
     1321 cacatcagag ttcacacggg agagaagccc ttttcgtgtc ccgagtgtaa caaaagtttc
     1381 cgcctcaaga gaagcctgaa agcccacggg ctgcagcaca ttgggaagcg gcccttccag
     1441 tgcccggagt gcagcagggg cttcttctgg aggaacgcca tgcgcgccca ccagcgcctg
     1501 cacagcgagc aaaagccctt cccctgcgcc gagtgcggca agcgcttcac gcggccttcc
     1561 aagctcgcct gccacaccag agtccacgac aggcagaagg agtttccctg cggcgagtgc
     1621 aaaaagacct tttctcagca gtcgcggctc acgcagcacc tgaaggtcca caccacggaa
     1681 aagccgttct cctgcgccga gtgcggccgc agtttccgcc gacgcgcgca tctcacagag
     1741 cacacgaggc ttcacagtgg cgaggagccc ttccagtgtc ccgagtgcga caagagcttc
     1801 tcctggaagg cctccatgaa gttccaccag cggatgcaca gggacgagaa gcccttcgcg
     1861 tgcggtgagt gtgacaagac ctacacgcat cagtctcagc tcaccgagca cctgaggctg
     1921 cacagtggag agaagcccta ccagtgtcct gaatgcgaga agactttccg cctcaaggga
     1981 aacctgaaaa gccacctgct gcagcacagt ggccaaaagc cattctcttg tgtgatgtgc
     2041 ggcaaaagtt tcactcaaca gtaccggctc acagaacaca ttcgagtcca cagcggggag
     2101 aagcccttcc agtgtccgga gtgtgacaag agctactgca tcaggggcag cttgaaggtc
     2161 cacttgtata agcacagtgg agagaggccc ttccagtgtc ccgagtgtgg caaaggcttc
     2221 ctccagaaga gaagcctgaa ggcccatctg tgccttcaca gtggggagag gcctttttct
     2281 tgtgatgagt gtggaaggag cttcacgtac gtgggggcgc tcaagaccca cattgcagtg
     2341 catgccaaag agaagccctc cagcctctag gtcaggccat gcagcagtca cgcagtcggc
     2401 tttcaggagg tgccagcagc tctgttggct caagttgagg caggttgaag gattcacagg
     2461 gtaagatcgg gcacagtggc tcccgcctgt aatcccatta ctttgggagg cccaggtggg
     2521 aggatcgctt gagcccagaa gtttgagacc agcctaggca acattgcaag actccatctc
     2581 tacaaaaaat ataaaagtca gccaggcgtt gtggtgcatg cttgtggtcc cagctacttt
     2641 gggaggttga ggcaggagga tcgcttgagc ccaggaggca gaggctgcag tgagccatgc
     2701 tcacaccact gcactccagc ctgggtgaca gagcaagatc ttgtctcaaa aaagaaaaaa
     2761 aatcacaaaa tactggctac agacacactg gacaggtgtg tggtctgcag aactctatgg
     2821 ctccttgaca aaagttccaa ataatccata gacagtcaaa gagacatctc cctcaataat
     2881 cgtcatagga aagacgtgcc agttgtggag gaaacattca cactgatctg ctagtccaac
     2941 gatctcttca gtgtcatcca ataatccctt cattaaattc agaaactaca gcctgagtga
     3001 agaaatgtta cagccaggaa catattcctc agtcagcttt tccattacca ggccatttta
     3061 cttaaatctg tattaaagtc ttcagttttc tctcatagtg gattttcatt ttctctcaga
     3121 tggtgagagg gcttctgttt cttggaatgt ttccatattg ctaaaaataa atgtcttcca
     3181 ctatctcatt tgttaaaa
//
LOCUS       NM_001001662            4442 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 782 (ZNF782), transcript variant 1,
            mRNA.
ACCESSION   NM_001001662
VERSION     NM_001001662.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4442)
  AUTHORS   Lei SF, Yang TL, Tan LJ, Chen XD, Guo Y, Guo YF, Zhang L, Liu XG,
            Yan H, Pan F, Zhang ZX, Peng YM, Zhou Q, He LN, Zhu XZ, Cheng J, Liu
            YZ, Papasian CJ and Deng HW.
  TITLE     Genome-wide association scan for stature in Chinese: evidence for
            ethnic specific loci
  JOURNAL   Hum Genet 125 (1), 1-9 (2009)
   PUBMED   19030899
  REMARK    GeneRIF: The present results suggest that the genomic region
            containing the ZNP510 and ZNP782 genes is an ethnic specific locus
            associated with stature variation in Chinese. GeneRIF: Observational
            study and genome-wide association study of gene-disease association.
            (HuGE Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK131468.1, BC137073.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000481138.6/ ENSP00000419397.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL158827.27, AL540705.3 and AK131468.1.
            On May 17, 2019 this sequence version replaced NM_001001662.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a). Variants 1 and 2
            both encode the same isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4442
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.33"
     gene            1..4442
                     /gene="ZNF782"
                     /note="zinc finger protein 782"
                     /db_xref="GeneID:158431"
                     /db_xref="HGNC:HGNC:33110"
     misc_feature    605..607
                     /gene="ZNF782"
                     /note="upstream in-frame stop codon"
     CDS             689..2788
                     /gene="ZNF782"
                     /note="isoform a is encoded by transcript variant 1"
                     /codon_start=1
                     /product="zinc finger protein 782 isoform a"
                     /protein_id="NP_001001662.1"
                     /db_xref="CCDS:CCDS35075.1"
                     /db_xref="GeneID:158431"
                     /db_xref="HGNC:HGNC:33110"
                     /translation="MNTFQASVSFQDVTVEFSQEEWQHMGPVERTLYRDVMLENYSHLV
                     SVGYCFTKPELIFTLEQGEDPWLLEKEKGFLSRNSPEDSQPDEISEKSPENQGKHLLQV
                     LFTNKLLTTEQEISGKPHNRDINIFRARMMPCKCDIAGSACQGLSLMAPHCQYSKEKAH
                     ERNVCDKWLISIKDGRTNTQEKSFAYSKIVKTLHHKEEVIQHQTIQTLGQDFEYNESRK
                     AFLEKAALVTSNSTHPKGKSYNFNKFGENKYDKSTFIIPQNMNPEKSHYEFNDTGNCFC
                     RITHKTLTGGKSFSQKSHIREHHRVHIGVKPFEYGKSFNRNSTLPVHQRTHATDKYSDY
                     HPCTETFSYQSTFSVHQKVHIRAKPYEYNECGKSCSMNSHLIWPQKSHTGEKPYECPEC
                     GKAFSEKSRLRKHQRTHTGEKPYKCDGCDKAFSAKSGLRIHQRTHTGEKPFECHECGKS
                     FNYKSILIVHQRTHTGEKPFECNECGKSFSHMSGLRNHRRTHTGERPYKCDECGKAFKL
                     KSGLRKHHRTHTGEKPYKCNQCGKAFGQKSQLRGHHRIHTGEKPYKCNHCGEAFSQKSN
                     LRVHHRTHTGEKPYQCEECGKTFRQKSNLRGHQRTHTGEKPYECNECGKAFSEKSVLRK
                     HQRTHTGEKPYNCNQCGEAFSQKSNLRVHQRTHTGEKPYKCDKCGRTFSQKSSLREHQK
                     AHPGD"
     misc_feature    911..973
                     /gene="ZNF782"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4193..4198
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF782"
                     /note="hexamer: AATAAA"
     regulatory      4218..4223
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF782"
                     /note="hexamer: AATAAA"
     polyA_site      4219
                     /gene="ZNF782"
     regulatory      4227..4232
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF782"
                     /note="hexamer: CATAAA"
     polyA_site      4239
                     /gene="ZNF782"
                     /note="major polyA site"
     polyA_site      4252
                     /gene="ZNF782"
     regulatory      4423..4428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF782"
                     /note="hexamer: AACAAA"
     polyA_site      4442
                     /gene="ZNF782"
ORIGIN
        1 agagccccgc ctcctcattt gggttctcga gactcccggg aagcggtttg ggaagctcgg
       61 gggtcggctc ggaaagtaga gggggcgcag ctggggcggg aggacagcgt ttgtgcccgg
      121 aagcgggaga ggaagcggga agtttgtggg atccccgccc cctgtgtcag tggatgcgac
      181 cgggcgggcc ctcggccttc ccggccgctg gagagggact tcggccgctg gctcccgggg
      241 cggctgaggc tgagcgttgg tccggagcag gtgccgggtg cgggccgcgg tgtgcgggac
      301 cggagcccgg cgcgagcggc ggcgggggtg gggaaagcgc atttgtaacg cgggcgacaa
      361 cgtgcccgaa atccccggac ggtgggtctg catcgagacc ccgagctctg gagctggaaa
      421 aacccggatg ccatactgct gttaacatat gtgacactgg agactttgtc cctacctcat
      481 agaatcccat gcatgatgat acatgaaggg ttttccgtgg ctatctactt ctgattcttt
      541 tgaaagcttt aaagacattg ggcatgaaag gttcagtgag tttccgggga tccctcgttt
      601 gtggtagagc caggaggaaa acagttccgt tcattctttc acagctgagg ctttacagtt
      661 ctctatactc tcccaagagc cacagaaaat gaacacattt caggcatcag tgtcattcca
      721 ggacgtgact gtggaattca gccaggagga gtggcagcac atgggccctg ttgagaggac
      781 cctgtacaga gatgtgatgc tggagaacta cagccacctc gtctcagtgg gctactgctt
      841 tacaaaacca gaactgatct tcacattgga acaaggagaa gatccatggt tattagagaa
      901 agagaaagga tttctaagca ggaactcccc agaagactcc caacctgatg aaatctcaga
      961 gaagagccca gaaaatcaag gcaaacattt gttgcaagtt ttattcacca ataaattatt
     1021 gactacagag caagaaattt caggaaaacc acataatcga gacataaaca tttttcgtgc
     1081 aagaatgatg ccttgtaaat gtgacattgc ggggtctgct tgccaggggc tcagcctgat
     1141 ggccccacac tgtcagtatt caaaagaaaa ggctcatgag cgtaatgttt gtgacaaatg
     1201 gctcatcagt attaaggatg gcagaactaa cactcaagag aaatctttcg cttatagtaa
     1261 aattgtgaaa accctccatc ataaggagga agttattcaa catcagacaa ttcagactct
     1321 ggggcaagat tttgaatata atgaaagtag aaaagctttt cttgaaaagg ctgcccttgt
     1381 tacatctaac agtacccacc caaaaggaaa atcttacaat ttcaataaat ttggggaaaa
     1441 caaatatgat aaatcaacct ttattattcc tcagaacatg aatccagaga agagtcacta
     1501 tgagtttaat gatactggaa attgtttctg tagaatcact cacaaaactc tcacaggagg
     1561 gaaatccttc agccaaaagt cacacattag agaacatcat agagttcata taggggtgaa
     1621 accctttgaa tatggaaaaa gtttcaaccg taattcaacc ctcccagtgc atcagagaac
     1681 tcatgcaaca gataaatact ctgattatca cccatgtaca gagacattca gctaccagtc
     1741 aactttcagt gtacatcaga aggttcacat aagggcaaaa ccctatgagt ataatgaatg
     1801 tgggaaatcc tgctctatga attcacactt gatttggcct cagaaaagtc acacagggga
     1861 gaaaccctat gaatgtcctg agtgcgggaa agccttcagt gagaagtcac gcctaagaaa
     1921 acatcagaga actcacacgg gagagaaacc atacaaatgt gatggatgtg ataaagcttt
     1981 cagtgcaaag tcaggcctaa gaatacacca gagaacccac acaggggaga aaccattcga
     2041 atgtcatgaa tgtgggaaat cttttaacta taagtcaatc ctcatagtgc atcagagaac
     2101 tcacacaggg gagaaacctt ttgaatgtaa tgaatgcggg aaatctttca gccatatgtc
     2161 aggcctaagg aatcaccgaa gaactcacac aggggaaaga ccatataaat gtgatgaatg
     2221 tgggaaagct ttcaaactga agtcaggcct gaggaaacat catagaacac acacagggga
     2281 gaagccctac aaatgtaatc agtgtggaaa agctttcggt cagaaatcac aactcagagg
     2341 acatcataga attcacacag gggaaaaacc ctataaatgt aatcattgtg gggaagcttt
     2401 cagtcagaaa tcaaacctca gagtacatca cagaactcat actggggaga aaccctatca
     2461 atgtgaggag tgtggaaaaa cattcaggca gaaatcaaat ctcagagggc atcagagaac
     2521 tcacactggg gagaagccct atgaatgtaa tgaatgtgga aaagctttca gtgagaagtc
     2581 agtcctaaga aaacatcagc gaactcacac cggggagaaa ccatataatt gtaatcagtg
     2641 tggggaagct ttcagtcaga aatccaatct cagagtacat cagagaactc acacagggga
     2701 gaaaccctat aaatgtgata aatgtgggag aactttcagt caaaaatcaa gccttagaga
     2761 acatcagaaa gcccacccag gggattaaat gtatgcatat aaagaatacg aaaaaactct
     2821 gagctggaaa tcaaacctca caatacataa atgaacacac aggagagaac tgttaacata
     2881 gtgagcactg gaatttcctc tacaatttca gcctccacca aatatcaaag aatagaagat
     2941 aaattgttga aatctatttt atatgggcat tctttcagcc agagcccagt cttctatgga
     3001 tatacagaac tcacacagca aagaaaccct ataaacataa tgaatatgga aaatactctt
     3061 gcgaactcac tcctcagaaa actcacgctg cagaaaagct ctgagaaagt aataaaaatg
     3121 tgaaaacttt gtgccaacaa tcaaaactca ttcaccatca gagaaatcac acaatgacaa
     3181 aagctagaat ataataagtg tgtgataaac tttaatgaaa agtcagtaca gcagaaaata
     3241 cattcaagat agagacctca tagtatatta aaacaaacaa gaaatgaagt taatggatgt
     3301 gggaaattct tctgccatgt caaccctcat tttaacctac acagaggtaa tccctatatg
     3361 tcgtataata actattgaaa tgttcactag taatcatttt cacttctccc tcatgccaca
     3421 cctggcctaa atttctcaac cactctctca tctaaacggg gtcatattgt taccctctag
     3481 ctagtggaat atggggtcag tgacaggtct taaatacatc agtcaaattc tcaatatttt
     3541 cttctatccc tcattagaat ggaatggagg aaaaccttgg gactcaggct ctgatgatgg
     3601 aaagtacaag atggtaggaa cccgggtcag agaaggatcc tgtggcatgg agttttctcc
     3661 tccctgtaca cagttggact tcttgcagtg aggaaataaa tgtgttccct gctgaacttc
     3721 taaaggtttg ggtatacttg atactgacag aaactcaaca accctcacat aataaaactt
     3781 aggagtatga tttttcagga catctgaact cagtgtatgt cagaaaagtc acataggaca
     3841 aatctcggac agcatcctga atgaccatgg cttttatccc caaagtcttc ctcatcagac
     3901 aggtaatatc ataagaaatc tgacatttta acaaatatag gaaattcttc acacacacag
     3961 acacacactc acacatacac acccaaagtc tcattaaata tatgataatt tagttttgaa
     4021 tgtgtaaaag ttttcaacaa attatcatat tttatatcag agcttgttac aaggagaaaa
     4081 tctatcaatt tgagaaaggt aagtaatagc ctttatctag atattgcttt atcagaactg
     4141 ttgtttcaca tataatatca aaacttttaa tgaaatataa gacattcact ataataaaaa
     4201 gcttaaaaag aacaaaaaat aaactgcata aactgaaaag cagtgttgca aatatgtgaa
     4261 tgttttgtga gttattgatt gtttatgtat gtatatatgc atggtactta ccaggtattt
     4321 gttttatgtt tcttagacct caacattgct gtaaaagaat tgtgttcccc ttgctttata
     4381 actactttga catcagctac aatttgccac atgaatatta ataacaaacc ttttacagaa
     4441 aa
//
LOCUS       NM_001001664            6056 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens speckle type BTB/POZ protein like (SPOPL), mRNA.
ACCESSION   NM_001001664
VERSION     NM_001001664.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6056)
  AUTHORS   Hu T, Xuan R, Han E, Cai L and Xia Z.
  TITLE     SPOPL induces tumorigenicity and stemness in glioma stem cells by
            activating Notch signaling
  JOURNAL   J Neurooncol 164 (1), 157-170 (2023)
   PUBMED   37523046
  REMARK    GeneRIF: SPOPL induces tumorigenicity and stemness in glioma stem
            cells by activating Notch signaling.
REFERENCE   2  (bases 1 to 6056)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 6056)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6056)
  AUTHORS   Gschweitl M, Ulbricht A, Barnes CA, Enchev RI, Stoffel-Studer I,
            Meyer-Schaller N, Huotari J, Yamauchi Y, Greber UF, Helenius A and
            Peter M.
  TITLE     A SPOPL/Cullin-3 ubiquitin ligase complex regulates endocytic
            trafficking by targeting EPS15 at endosomes
  JOURNAL   Elife 5, e13841 (2016)
   PUBMED   27008177
  REMARK    GeneRIF: Together, the data indicate that a CUL3-SPOPL E3 ubiquitin
            ligase complex regulates endocytic trafficking and formation of
            multivesicular bodies by ubiquitinating and degrading EPS15 at
            endosomes. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6056)
  AUTHORS   Clark SL, Souza RP, Adkins DE, Aberg K, Bukszar J, McClay JL,
            Sullivan PF and van den Oord EJ.
  TITLE     Genome-wide association study of patient-rated and clinician-rated
            global impression of severity during antipsychotic treatment
  JOURNAL   Pharmacogenet Genomics 23 (2), 69-77 (2013)
   PUBMED   23241943
REFERENCE   6  (bases 1 to 6056)
  AUTHORS   Errington WJ, Khan MQ, Bueler SA, Rubinstein JL, Chakrabartty A and
            Prive GG.
  TITLE     Adaptor protein self-assembly drives the control of a cullin-RING
            ubiquitin ligase
  JOURNAL   Structure 20 (7), 1141-1153 (2012)
   PUBMED   22632832
REFERENCE   7  (bases 1 to 6056)
  AUTHORS   Zhang Q, Zhang L, Wang B, Ou CY, Chien CT and Jiang J.
  TITLE     A hedgehog-induced BTB protein modulates hedgehog signaling by
            degrading Ci/Gli transcription factor
  JOURNAL   Dev Cell 10 (6), 719-729 (2006)
   PUBMED   16740475
REFERENCE   8  (bases 1 to 6056)
  AUTHORS   Kent D, Bush EW and Hooper JE.
  TITLE     Roadkill attenuates Hedgehog responses through degradation of
            Cubitus interruptus
  JOURNAL   Development 133 (10), 2001-2010 (2006)
   PUBMED   16651542
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC071613.1, SRR11853558.14691.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000280098.9/ ENSP00000280098.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC114763.6 and AC092620.2.
            On May 17, 2019 this sequence version replaced NM_001001664.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6056
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q22.1"
     gene            1..6056
                     /gene="SPOPL"
                     /gene_synonym="BTBD33"
                     /note="speckle type BTB/POZ protein like"
                     /db_xref="GeneID:339745"
                     /db_xref="HGNC:HGNC:27934"
     misc_feature    381..383
                     /gene="SPOPL"
                     /gene_synonym="BTBD33"
                     /note="upstream in-frame stop codon"
     CDS             411..1589
                     /gene="SPOPL"
                     /gene_synonym="BTBD33"
                     /note="HIB homolog 2; roadkill homolog 2"
                     /codon_start=1
                     /product="speckle-type POZ protein-like"
                     /protein_id="NP_001001664.1"
                     /db_xref="CCDS:CCDS33298.1"
                     /db_xref="GeneID:339745"
                     /db_xref="HGNC:HGNC:27934"
                     /translation="MSREPTPPLPGDMSTGPIAESWCYTQVKVVKFSYMWTINNFSFCR
                     EEMGEVLKSSTFSSGPSDKMKWCLRVNPKGLDDESKDYLSLYLLLVSCPKSEVRAKFKF
                     SLLNAKREETKAMESQRAYRFVQGKDWGFKKFIRRDFLLDEANGLLPDDKLTLFCEVSV
                     VQDSVNISGHTNTNTLKVPECRLAEDLGNLWENTRFTDCSFFVRGQEFKAHKSVLAARS
                     PVFNAMFEHEMEESKKNRVEINDLDPEVFKEMMRFIYTGRAPNLDKMADNLLAAADKYA
                     LERLKVMCEEALCSNLSVENVADTLVLADLHSAEQLKAQAIDFINRCSVLRQLGCKDGK
                     NWNSNQATDIMETSGWKSMIQSHPHLVAEAFRALASAQCPQFGIPRKRLKQS"
     regulatory      4803..4808
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPOPL"
                     /gene_synonym="BTBD33"
                     /note="hexamer: AACAAA"
     polyA_site      4819
                     /gene="SPOPL"
                     /gene_synonym="BTBD33"
                     /note="major polyA site"
     regulatory      5714..5719
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPOPL"
                     /gene_synonym="BTBD33"
                     /note="hexamer: AATAAA"
     polyA_site      5744
                     /gene="SPOPL"
                     /gene_synonym="BTBD33"
                     /note="major polyA site"
ORIGIN
        1 acgcgccctc gcgggctgga gccggggctg gagtcgtaac tcggaagccg gagcccagac
       61 gggcccgcgg cgggggggtg ggggctgcgc gggggcggga gtggcggagg tggccgcccc
      121 tggcggcggg tttgtttatc ccggggaaga agtttaggag cgggagatag ggaaggaggg
      181 cgggtcgggg aggagggatg cggttcggcg gaggcggccg ccacagggac ttgccgccat
      241 cacccctgct gccaccaccg cagcctcggg ctcccagggc ggacacggcc accgcctcag
      301 cgggagagga gtctccacca ggactgaccg ctgccgccca gcacgtccag gtaaggtact
      361 caactgtgtg gggtactaca taaatcctga aagactacaa taaagtggtg atgtctcggg
      421 aacccacccc acctctacct ggagatatgt ctactggtcc catagcagaa agctggtgtt
      481 acacacaggt taaagtagta aaattttcct atatgtggac cattaataac ttcagttttt
      541 gtcgagagga aatgggtgaa gtgttaaaaa gttcaacatt ttcatctggc ccaagtgaca
      601 aaatgaaatg gtgcctgagg gtaaacccaa agggattaga tgatgaaagt aaagactact
      661 tgtccttata tttgctttta gtcagctgcc ccaaaagtga agttcgagca aaattcaaat
      721 tttcccttct gaatgctaaa agggaagaaa caaaagcaat ggaaagccaa agagcatatc
      781 gatttgtgca agggaaggac tggggtttta aaaaattcat tagaagggac tttttgcttg
      841 atgaagctaa tggtctttta ccagatgaca agcttacatt attttgtgag gtgagtgtgg
      901 tccaagattc agtaaacata tcaggacata ctaatacaaa tactttgaag gtgcctgagt
      961 gtcgtctagc agaagattta ggtaatctct gggaaaacac aagatttaca gactgcagtt
     1021 ttttcgtgag aggacaagaa tttaaagctc ataaatctgt gcttgcagct cgatctccag
     1081 tttttaacgc catgtttgaa catgaaatgg aagaaagcaa aaagaatcga gtggaaataa
     1141 atgatttaga ccctgaagtt tttaaagaaa tgatgagatt catttacaca gggagagcac
     1201 caaaccttga caaaatggct gacaacttgt tggcagctgc agacaaatat gcactggaac
     1261 ggctgaaggt catgtgcgaa gaagctttgt gtagtaacct ctcagtagag aatgttgcag
     1321 atacccttgt ccttgcagat ttgcacagtg cagaacagtt gaaagcacaa gccatagact
     1381 ttattaatag gtgcagtgta cttcgacaac ttgggtgtaa agatgggaaa aactggaaca
     1441 gcaaccaagc aaccgacata atggaaacat cagggtggaa gtccatgatt cagtctcacc
     1501 ctcatttagt agcagaagcc tttcgagcac tagcatctgc acagtgtcca cagtttggca
     1561 ttccacgcaa acggctaaaa cagtcctgaa atcttccatg aacagttgaa aaatggaatt
     1621 gactttcact cctccaggtc cagaaggatt ctaatacaca aaccataagc aagagttgtt
     1681 tctgttattt tgtccacaga acagaagctg aaaaagcata ttgcttgcat ttcaggtgga
     1741 taatttatgg tttattcttc agctttaaat tagactgatt aattcacttc aaggccttaa
     1801 attatcttca atgacttgtc ttgttcatat aatactttaa ttttttttta ttgtgccttg
     1861 tcattttgac caaggctatg caggattgca ctagctccat aatgcagtaa tattgataac
     1921 tgaagatact aagtttcaaa aggatcttcc attattttgc aaaaagaaaa atgaatttta
     1981 tagggtttgt cctatgctat ctcaaagttt aagttctctt taaaagcact tgtattggag
     2041 attaccagta atatctccaa tctaagttct ataaatatgg gagaaccctc ttaccttcaa
     2101 ggtaagttat ggcaatacac tgcttcaatt ctaatttatt tttcatttca gggggcaaat
     2161 atgcaatgag ttggcctaga tttttagtga catttatgat gtttgtcttg tatgttaact
     2221 gtccaacaaa ctgtgggttt attctaagtt tacaattatt gagaactgat tgaggttaag
     2281 atttcatgaa gaaagcatgt attgtgtgga agtaattttt ttttaattta tactgaccta
     2341 catttatacg aagaattctg tacatgttaa aagtaaggat gaccaaatgc aaatttaatg
     2401 agtgggccaa ttaagaaaga tacatatgca cttttactgt gtaacttttg tatgctgaat
     2461 ggtacatata tttttttgct tttgagggaa ttaataaggt ataattaatt gtgtcttaac
     2521 ttttcaaaga aatttttaga tggaggcaac tgggatgttt gtgataatag atgagaaaga
     2581 catccttgat tgtagttaaa ttggtttgga ttacagatat tcattattga attgactcct
     2641 attttctcac actttggaaa agacacctga acaataaatg aatcctggat agtctactct
     2701 ccttcaaaca attaactgat acttgccttt gggagatgca tacaaaagga gagaaccctt
     2761 agactatgtc aggtcacact aggaacctcc cctcactccc cgtttttctt cattgtgttt
     2821 cagttactgt actaacattg tggatgatac tgaaattctg cataatgtga acaggataaa
     2881 ctatttataa actgcttttc atgggccagt tctttattat aaatgaattt tagctttaaa
     2941 tgcatataca cgttcagtgt ttgatagttg tgttcttaag ggaggtttgt tctggtgcat
     3001 tgtcctggag aagcagaagc agtcagtgtt ggggtaccac atctgactta ctgtggtggt
     3061 gaccagtgtg cttcttaagg gcaagattta tatttgacca caagggaaaa agtgtgtcac
     3121 tggaaaaaaa cgcatatacc tatgtttgca aacataacta ttcttcagat taaaatttgt
     3181 ataatttgtt tatttaatgt ttgaattcag gacaaaagaa aaaatgaagc ttgaggtgtt
     3241 ttcaaataga ccttattttt gctatctctt tgttaggtgt taactgaagc aattcgaata
     3301 tgtccagatt catttggatt catatttaca ttgaaaaaac tcaactaagc atttgttatc
     3361 cacaacaacc tagagtttaa aaagatcgta ttttcacctg tcttcattac tttctatgta
     3421 gtttcattct ttgtcgtggt aacttaaatt tgaaattgga agaatctctt gggatagaag
     3481 aaagattctt acctggtgat ggaacttcat acttcatcct gtgtaagagt attatgggaa
     3541 gtagaaattc acttccttaa atccatcgta agattgagcc tcaagtttgc aatatacaat
     3601 tttaaaaata cacatacata catacatatg tatacatttc cagttttaag attttgcgag
     3661 ggtcttataa gaaaacaaaa attccctcag gctatagaat tatgttgtca tatatcagaa
     3721 aagtactgat gtatccattt atatccaatg cgcaccacac cggcacattg tgatttaatt
     3781 caccgcttga atctatattt ctaaccacag tgacttcagt aaaaataccg tataatgaac
     3841 atttcagctt cttcttactt actcgagagt ttattgcaaa tcttaaggat tttattataa
     3901 agattttttt tttagtttgg tagcacattt tgtaccaaaa atgtcaaaca ctgtgctgta
     3961 agaatatcca tgtttgtaga aatgtccact tttcagataa tataatgcct accattatac
     4021 taacagaatc atatggtagt tgatttattt ttttatttat tatgtatatt tttggtattg
     4081 tgggttcttg aggcaatgat aaaaacactt aatgtattct gacatgagtg ctctaatagc
     4141 ctccttctcc tcatttttaa actgcataca ttactttcaa aataggtata gatactctgt
     4201 cccgcctttt gagctattag cctgttcctg tttccctttg tcacctaagc aaggcttttt
     4261 ctgagaaggt agtgaatggt ttcaaatgtt gcatactata agaataatca ttgggtaact
     4321 gttgtttaga ccaacactta gaaatactat atttgtgcct tttcattttt aattttaatg
     4381 tgtgttgata tttggagcac aaataatgaa ggtgccataa tatggcttgc caatgttacc
     4441 tccttgaata gtcatgtgtc attgtcttga attggtaatt ggagaacctt gcatgaaata
     4501 tgtgatcgtg tgtgtgtgtg tgtatgcgcg tgtgtgtctg tgtgtttgtg tacatacctg
     4561 tatttgcttg gggcttgtgt gtggtatgtt acaaagagtg aatttctgga aatagaaatc
     4621 agttaaatgt tgaaagttca ggttagcaga aatatttcat ttaaatatgc tttactttgg
     4681 aggacaattg attaacagag gaaatgataa ttttcaaaaa tgtgatcaat ttactgcatg
     4741 atgaaatgtg aaaacagtgc ctttttagga catcaattat aataaaattg ttttaaaata
     4801 ttaacaaaga tctcaaaaag ttgtcatgaa cattattcat ttatttttaa actggatcta
     4861 aataagagct tagatggcca aaattagaat taataatata cccatttaaa ttttgttcat
     4921 aaatttaaaa tcttaatcag aattctttat aaaatgtggg tcatagatat gacccagtgt
     4981 tactaaaata gaacagggat tgtgaaaatc cagctcaaca tacttaagta tacttggctt
     5041 agagccaagt atacttgaag aggtgaatta ttctgacttg gacatgcatg ctctttgatg
     5101 gataaaataa aaatattcaa tttattctta caaaagaagg tgggtgggtg agtgggttcg
     5161 ttttagtgtt ctcagattat aaagacagct ataaagacag cactttccgc acacaaagtg
     5221 tattttacaa acctttttta tacaaattaa tgagctctac tttatttaag tgttcatgga
     5281 atgatgtaaa ttttaggtcc agttgaacaa atattgagtg cctatcatat gcaagactaa
     5341 ctccttacta ggaatgaaat cacacagtgt cttctgtttg cagtatgtga actttatgtt
     5401 tgaaaagaaa ttattatatt taaatttttt tgttgtcaga gtttatcatt gtatactgta
     5461 acccagtaaa ttttgcattc agttttaaaa aatgaagatg taacttacct gagtctcatt
     5521 tttgaaaatg aaattctgca aaaattattt aaaaattagt tcttggggaa attgattttc
     5581 aagattcaag tgtataaaaa cttatattga acttttcagc ctcgttttta attagctgat
     5641 gttaatgata agatacataa tacatgtatc ttgttgctga aaatattttt tgcatttcaa
     5701 cacattgagt taaaataaag ttgttactac ttattcaaga ttaattggct tatcttgtgt
     5761 ttatttgaag aatacatact cttctttttc aggttggtat gatgctttgc aaaagagcca
     5821 tgtatttgat acggtaaatc atgcatagta attgtctttt ctacataggg gagctcttgt
     5881 tttttggaac caattgaaga cattcttaac tgtaaaatat taatatgcat ttattttaat
     5941 atgtatgaac catcaatact ggatgactta ttctaatgct acgtaccatt aatgtaacag
     6001 agatcacctt ttccctgtca ttcctatcct gtcttaattt cagttatccc agacaa
//
LOCUS       NM_001001667             942 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily V member 1
            (OR6V1), mRNA.
ACCESSION   NM_001001667
VERSION     NM_001001667.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 942)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 942)
  AUTHORS   Vanti WB, Nguyen T, Cheng R, Lynch KR, George SR and O'Dowd BF.
  TITLE     Novel human G-protein-coupled receptors
  JOURNAL   Biochem Biophys Res Commun 305 (1), 67-71 (2003)
   PUBMED   12732197
  REMARK    GeneRIF: This publication uses 'GPR138' as a name for this gene.
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC137044.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000418316.2/ ENSP00000396085.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065697.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..942
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..942
                     /gene="OR6V1"
                     /gene_synonym="GPR138"
                     /note="olfactory receptor family 6 subfamily V member 1"
                     /db_xref="GeneID:346517"
                     /db_xref="HGNC:HGNC:15090"
     CDS             1..942
                     /gene="OR6V1"
                     /gene_synonym="GPR138"
                     /note="olfactory receptor OR7-3"
                     /codon_start=1
                     /product="olfactory receptor 6V1"
                     /protein_id="NP_001001667.1"
                     /db_xref="CCDS:CCDS47728.1"
                     /db_xref="GeneID:346517"
                     /db_xref="HGNC:HGNC:15090"
                     /translation="MANLSQPSEFVLLGFSSFGELQALLYGPFLMLYLLAFMGNTIIIV
                     MVIADTHLHTPMYFFLGNFSLLEILVTMTAVPRMLSDLLVPHKVITFTGCMVQFYFHFS
                     LGSTSFLILTDMALDRFVAICHPLRYGTLMSRAMCVQLAGAAWAAPFLAMVPTVLSRAH
                     LDYCHGDVINHFFCDNEPLLQLSCSDTRLLEFWDFLMALTFVLSSFLVTLISYGYIVTT
                     VLRIPSASSCQKAFSTCGSHLTLVFIGYSSTIFLYVRPGKAHSVQVRKVVALVTSVLTP
                     FLNPFILTFCNQTVKTVLQGQMQRLKGLCKAQ"
     misc_feature    7..9
                     /gene="OR6V1"
                     /gene_synonym="GPR138"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N148.1); glycosylation site"
     misc_feature    70..132
                     /gene="OR6V1"
                     /gene_synonym="GPR138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N148.1);
                     transmembrane region"
     misc_feature    157..219
                     /gene="OR6V1"
                     /gene_synonym="GPR138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N148.1);
                     transmembrane region"
     misc_feature    292..354
                     /gene="OR6V1"
                     /gene_synonym="GPR138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N148.1);
                     transmembrane region"
     misc_feature    412..474
                     /gene="OR6V1"
                     /gene_synonym="GPR138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N148.1);
                     transmembrane region"
     misc_feature    586..645
                     /gene="OR6V1"
                     /gene_synonym="GPR138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N148.1);
                     transmembrane region"
     misc_feature    706..768
                     /gene="OR6V1"
                     /gene_synonym="GPR138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N148.1);
                     transmembrane region"
     misc_feature    808..870
                     /gene="OR6V1"
                     /gene_synonym="GPR138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N148.1);
                     transmembrane region"
ORIGIN
        1 atggcaaatc tgagccagcc ctccgaattt gtcctcttgg gcttctcctc ctttggtgag
       61 ctgcaggccc ttctgtatgg ccccttcctc atgctttatc ttctcgcctt catgggaaac
      121 accatcatca tagttatggt catagctgac acccacctac atacacccat gtacttcttc
      181 ctgggcaatt tttccctgct ggagatcttg gtaaccatga ctgcagtgcc caggatgctc
      241 tcagacctgt tggtccccca caaagtcatt accttcactg gctgcatggt ccagttctac
      301 ttccactttt ccctggggtc cacctccttc ctcatcctga cagacatggc ccttgatcgc
      361 tttgtggcca tctgccaccc actgcgctat ggcactctga tgagccgggc tatgtgtgtc
      421 cagctggctg gggctgcctg ggcagctcct ttcctagcca tggtacccac tgtcctctcc
      481 cgagctcatc ttgattactg ccatggcgac gtcatcaacc acttcttctg tgacaatgaa
      541 cctctcctgc agttgtcatg ctctgacact cgcctgttgg aattctggga ctttctgatg
      601 gccttgacct ttgtcctcag ctccttcctg gtgaccctca tctcctatgg ctacatagtg
      661 accactgtgc tgcggatccc ctctgccagc agctgccaga aggctttctc cacttgcggg
      721 tctcacctca cactggtctt catcggctac agtagtacca tctttctgta tgtcaggcct
      781 ggcaaagctc actctgtgca agtcaggaag gtcgtggcct tggtgacttc agttctcacc
      841 ccctttctca atccctttat ccttaccttc tgcaatcaga cagttaaaac agtgctacag
      901 gggcagatgc agaggctgaa aggcctttgc aaggcacaat ga
//
LOCUS       NM_001001668            7194 bp    mRNA    linear   PRI 01-JUL-2023
DEFINITION  Homo sapiens zinc finger protein 470 (ZNF470), mRNA.
ACCESSION   NM_001001668
VERSION     NM_001001668.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7194)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   2  (bases 1 to 7194)
  AUTHORS   Hering TM, Kazmi NH, Huynh TD, Kollar J, Xu L, Hunyady AB and
            Johnstone B.
  TITLE     Characterization and chondrocyte differentiation stage-specific
            expression of KRAB zinc-finger protein gene ZNF470
  JOURNAL   Exp Cell Res 299 (1), 137-147 (2004)
   PUBMED   15302581
REFERENCE   3  (bases 1 to 7194)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr
            M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano
            A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin
            E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D,
            Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M,
            Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J,
            Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou
            Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J,
            Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP,
            Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers
            S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V,
            Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J,
            Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M,
            Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar
            DS, Myers RM, Rubin EM and Lucas SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.65333.1,
            SRR1803616.88333.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000330619.13/ ENSP00000333223.7
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007228.1, DA412738.1, AY484591.1, AK129686.1 and AA977233.1.
            On Nov 22, 2018 this sequence version replaced NM_001001668.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7194
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     gene            1..7194
                     /gene="ZNF470"
                     /gene_synonym="CZF-1"
                     /note="zinc finger protein 470"
                     /db_xref="GeneID:388566"
                     /db_xref="HGNC:HGNC:22220"
                     /db_xref="MIM:620441"
     misc_feature    598..600
                     /gene="ZNF470"
                     /gene_synonym="CZF-1"
                     /note="upstream in-frame stop codon"
     CDS             730..2883
                     /gene="ZNF470"
                     /gene_synonym="CZF-1"
                     /note="chondrogenesis zinc finger protein 1"
                     /codon_start=1
                     /product="zinc finger protein 470"
                     /protein_id="NP_001001668.3"
                     /db_xref="CCDS:CCDS33122.1"
                     /db_xref="GeneID:388566"
                     /db_xref="HGNC:HGNC:22220"
                     /db_xref="MIM:620441"
                     /translation="MKSQEEVEVAGIKLCKAMSLGSVTFTDVAIDFSQDEWEWLNLAQR
                     SLYKKVMLENYRNLVSVGLCISKPDVISLLEQEKDPWVIKGGMNRGLCPDLECVWVTKS
                     LSLNQDIYEEKLPPAIIMERLKSYDLECSTLGKNWKCEDLFERELVNQKTHFRQETITH
                     IDTLIEKRDHSNKSGTVFHLNTLSYIKQIFPMEERIFNFHTDKKSLKTHSVVKKHKQDR
                     GEKKLLKCNDCEKIFSKISTLTLHQRIHTGEKPYECIECGKAFSQSAHLAQHQRIHTGE
                     KPFECTECGKAFSQNAHLVQHQRVHTGEKPYQCKQCNKAFSQLAHLAQHQRVHTGEKPY
                     ECIECGKAFSDCSSLAHHRRIHTGKRPYECIDCGKAFRQNASLIRHRRYYHTGEKPFDC
                     IDCGKAFTDHIGLIQHKRTHTGERPYKCNVCGKAFSHGSSLTVHQRIHTGEKPYECNIC
                     EKAFSHRGSLTLHQRVHTGEKPYECKECGKAFRQSTHLAHHQRIHTGEKPYECKECSKT
                     FSQNAHLAQHQKIHTGEKPYECKECGKAFSQIAHLVQHQRVHTGEKPYECIECGKAFSD
                     GSYLVQHQRLHSGKRPYECLECGKAFRQRASLICHQRCHTGEKPYECNVCGKAFSHRKS
                     LTLHQRIHTGEKPYECKECSKAFSQVAHLTLHKRIHTGERPYECKECGKAFRQSVHLAH
                     HQRIHTGESSVILSSALPYHQVL"
     misc_feature    1375..1386
                     /gene="ZNF470"
                     /gene_synonym="CZF-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ECI4.3);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     misc_feature    1882..1893
                     /gene="ZNF470"
                     /gene_synonym="CZF-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ECI4.3);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     regulatory      7171..7176
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF470"
                     /gene_synonym="CZF-1"
                     /note="hexamer: AATAAA"
     polyA_site      7194
                     /gene="ZNF470"
                     /gene_synonym="CZF-1"
                     /note="major polyA site"
ORIGIN
        1 acttccggaa aggacccaaa gccgggcgag tgcacgtccc gccggttgct gaggagaagg
       61 gaggtctggg cggggcagcg gccgaggctg gactggggcg cggcgggggc ggtgtcctgg
      121 ttcctgtgtg ggcggcgggc gtgagcgtgc gcgtgtggcc tggtggctgt gagtgcccat
      181 acgtggtgag cgtgcggtgc tgtgctgagg aggggcgagc gcgcgcgggg atggcggccc
      241 ggtgtgtgac tgtccggtgc gtggccgcga atctgcgcct gcgtgcatgg cccggcggcg
      301 tgcggaaggc ggtgtgtgtt ggaatgagtg aagcacttta agtggccaag agcaggaaac
      361 ccggccggag gaggcttacc ccgttctccc ctgtatcgac tgcgtagagc ccagtgtggg
      421 caaagtccta gagcccgggg aagttgcccg ggcggggcag cctcggctga agcatttcct
      481 gtcagcccta tctggaaggg gcagagccca ggacagggct ccatgtccac aggacggcga
      541 ggagcgaaga ccatggggac tgagtacaca gatgaagaca cagaagcata gagaggataa
      601 gtaatcacta gcaagtggaa gaaccgggat tcagatccag aacaggctga ctccagagtc
      661 actggctgtc atgtagtttc ctcaactact gcctcagctc tacaatccca gagtaaagct
      721 cttctccaaa tgaagagcca ggaagaggta gaggtggcag gaattaaact ttgtaaagcc
      781 atgtccctgg gttcagtgac tttcacagat gtggccatag acttttccca agatgaatgg
      841 gagtggctga atcttgctca gagaagtttg tacaagaagg tgatgttaga aaactacagg
      901 aacctagttt cagtgggtct ttgcatttct aaaccagatg tgatctcctt actggagcaa
      961 gagaaagacc cttgggtgat aaaaggaggg atgaacagag gcctgtgccc agacttggag
     1021 tgtgtgtggg tgaccaaatc attatcttta aaccaggata tttatgaaga aaaattaccc
     1081 ccggcaatca taatggaaag acttaaaagc tatgaccttg aatgttcaac attagggaaa
     1141 aactggaaat gtgaagactt gtttgagagg gagcttgtaa accagaagac acattttagg
     1201 caagagacca tcactcatat agatactctt attgaaaaaa gagatcactc taacaaatct
     1261 gggacagttt ttcatctgaa tacattatct tatataaaac agatttttcc catggaagag
     1321 agaatattta attttcatac agataagaaa agcttaaaaa cacattcagt tgtgaaaaaa
     1381 cacaagcaag accgtggaga aaagaaactt ttaaaatgta atgactgtga gaaaatattc
     1441 agcaaaatct caacccttac tcttcaccaa agaattcata caggagagaa accctatgaa
     1501 tgtattgaat gtggaaaggc ctttagccag agtgcccacc ttgctcaaca tcagagaata
     1561 cacacaggag aaaaaccttt tgaatgtact gaatgtggga aagccttcag ccagaatgct
     1621 catcttgttc aacaccagag agttcatact ggagagaaac cttatcagtg taagcagtgt
     1681 aataaagcat tcagccagct tgcacacctt gctcaacatc agagggtcca cactggagag
     1741 aaaccctatg aatgtattga atgtgggaag gcttttagtg attgctcatc cctagctcat
     1801 catcgaagga ttcacactgg gaaaagacct tatgaatgta ttgactgtgg gaaagctttc
     1861 aggcagaatg cttctcttat acgtcatcgg cgatattatc atactggaga gaaacccttt
     1921 gactgtattg attgtgggaa ggctttcact gatcacatag gacttattca gcataagaga
     1981 actcatactg gagagagacc ttacaaatgt aatgtgtgtg ggaaggcttt tagccatggc
     2041 tcatctctga cagtacatca gagaattcat acaggagaga aaccttatga atgcaatatc
     2101 tgtgagaaag ccttcagcca tcgtgggtct cttactcttc atcagagagt tcatactgga
     2161 gagaaaccct atgaatgtaa agaatgtggg aaagctttcc ggcagagcac gcatctggct
     2221 catcatcaga gaattcatac tggagagaaa ccttatgaat gtaaggaatg cagcaaaacc
     2281 ttcagccaga atgcacacct cgcgcaacat cagaaaatac acactgggga gaaaccttat
     2341 gaatgtaagg aatgtggtaa ggccttcagt cagattgcac accttgttca gcaccagaga
     2401 gttcatactg gtgagaagcc ttacgaatgt attgaatgtg ggaaggcctt tagtgatggc
     2461 tcatatcttg ttcaacatca gagactccac agtggcaaaa gaccgtatga atgtcttgaa
     2521 tgtgggaagg cattcaggca gagggcatcc ttgatttgtc atcagagatg tcatactggt
     2581 gagaaacctt atgaatgtaa tgtttgtggg aaagccttta gccatcgtaa atcccttact
     2641 ctgcatcaga gaattcatac aggagagaaa ccttatgagt gtaaggaatg tagcaaagcc
     2701 ttcagccagg ttgcccatct tactctacat aagagaattc atactggaga aaggccctat
     2761 gagtgtaaag aatgtggaaa agccttcagg cagagtgtac atcttgctca tcatcagcga
     2821 attcataccg gagagtcatc agttattctc tcctctgccc tcccatacca ccaagtccta
     2881 tagattcaat ctcgtaaatg cttctagcat ccatctgctt ttttccagca catgtcccat
     2941 catcatagtc caagacgcaa ccatctcatc tggatttctg cagtagcata actgttgccc
     3001 cttttgcttc tatcaactac atgtttaaca ctgtaggcag cctaaccttt taaaaataaa
     3061 aatacataat ttatgttatt ttcccattta aaacacttga tttgaaaaat atattaacta
     3121 atccatttca aggatttagc acacactggc atatagttat tgctaaataa atgctagcca
     3181 ttaaggtaaa ggtttcctta caaactatca tattaagcag caagtaaacc aaacagtaag
     3241 tctaagacta agattttaga gcagacagaa gactactctc ctggtagaga ggaaagatga
     3301 acaaactcag aattgaaaga tttatggtac acaaggtaac atggtggctt atcactccct
     3361 ctgtgacatt gttgatgagc aactctcact ttacctgaca ctgagaagtg agaatcagcc
     3421 aattagaaca aaagctttta gctgggtgcg gtggctcatg cctgtagtcc cagcactttg
     3481 ggaggctgag gcaggcagat tgcttgagct caggagttcg agaccaacct gagcaacatg
     3541 gtgaaaccct gtctctacaa aaaatacaga aattagccag gcgtggtggt gcacacctgt
     3601 agtcctagct actcaggagg ctgaagcagg aggattgctt gagcccagga ggtagaggtt
     3661 gcagtgagtc atgatcacac cactgcaatt ccagctgggc agcagagcca gacactgtct
     3721 caaggaaaaa caaagaacaa aagcatttgg tagaatgtag gactaaccag ggtaggtagt
     3781 agtaaaccaa aagtaacaag ccaaaaaaac ttgaatagat taatagccat gaaacactga
     3841 aaagggtagt tcaatacttt ggcctttata aaagtaccac agacaattcg tgtggtattt
     3901 aaattgttct agcataaaat aaaatgcaat aagaccttcc atcttgttcc atgagattga
     3961 caagacatgc caaaacataa aaatatgtac actgcaatta gtttctgaat gtagatgtta
     4021 caacttaaac ttatttttaa aatatttaaa aataggaagg ctagacatgc ctctgtatag
     4081 aaaatctgat aaaaatattt ctccctaaat tgtaaattca ttgatattcc agtaaaaatt
     4141 tccatatttt tttagttgag aagctgattc tgatcatctg tagaattttg attttaacga
     4201 ggaatgtagt ttacattagg aatgtagtac taatactaat tgaacatttg ctaatgtttc
     4261 acacactatt ttaggtgctg ggggatacag taaggtacaa gatggacaaa aatacgtgct
     4321 cttacagatc tagtagaaca gaaaaaatta aatgcatgct atgtgataag tatatgatat
     4381 gtcccataaa gagaaatgat ataaaaaaga agctagggag tgctggatca ggcaccttac
     4441 tatccccaga acatgttggt attagaggat gagggaagaa ctagaggtaa ctgtgagaca
     4501 caaaaggcat aatgaaaata gtcatgatag tcccaaggca gatattgttt atgatgcttt
     4561 gagtgttgga ggaagggagg attgatggtt taacagagat catggcagtt atgttcactc
     4621 atataaatgt tgatttagaa gctggtggaa gggtattttt tgagtgacag ctttattgag
     4681 acaaagcaat tctggagaac acccatatcc ttctctctgt atccatcagc agaagtgaag
     4741 agggagcccc aaagttccac ttaaagtgta caacttatgg cttttagttc attcacggag
     4801 ttgtgcaacc atcaccacca tcaattttag aacattttca tcacctcaaa gaggaatccc
     4861 ttgtcctttt gtagttatgg ccatccctgg aagagtactt tttttttttt ttcaactgaa
     4921 gcacccagag ctcttgggtt ccctcttaac tgctttctgt ggaagtatag agggccatgt
     4981 gagggaagcc gttatccaga gtacatgact gctagaaaat ggagtttggg gctccctctt
     5041 cacttctgct gatagaagca taatggctag gggatgggta gtctcaccag agaatgtgga
     5101 gctttcagac tctccttata tatgataaaa aggatttttc attgtagtgg ggaaaaggtg
     5161 gtttgatcaa atggcattgg gaaacttagc tcactggaaa aacagatctg tacctttcac
     5221 actaatgaaa tgcctgagat attaaaggtc taaatgtaaa attaaagtac atgaaaaaca
     5281 gaataatata tatgtaccct cggtttgaaa tagactttaa gcactaatgc ataaccccaa
     5341 agctgacatt aggcttttat atggtggaaa acatcatagt caatagataa atgagagact
     5401 gacacaaagt gtttgcaaca gatataataa aggactgtaa ttcgtgatat tcaaagtact
     5461 attacaaacc aataataatc tgcaacttag aaaaatggac taatgtccca ttcacaaaag
     5521 atgcaataaa agcagttaat gaaaattatc caatatcact agaaatcaag aaatgcaaat
     5581 taaagtgatt atctactttt tccccaaaag actgactaat cgagtgataa cattcagtat
     5641 tggtgaatgt gtggaaacaa gggaattcca ttgttgatta catatctatt gctttatgta
     5701 tatacccttt gaattaatat tccttggaaa ccaacatata caaaggtaga taaatgtatt
     5761 agtggcaaaa aaattaatgg taaactatta aaacaacaag tgtccatcag ggtaataaat
     5821 aaattaatta tggtatatat ccattcaata ggaattatgc agctgttgaa aaaaaatcaa
     5881 tgtgtgtagt catagaaaga tagctgtgct atactaaatg aaaaattgca gacctgtatt
     5941 gtagtatagg cccataattg tgatatcaaa aataaaaatc aaaatatata ttatagtagg
     6001 catttgtttt tctctgccca gtttcccttg cctcctcctt ttggctgcac tatctcatct
     6061 tttccttttg agtaactggc cataccctac catatgtttt tgatggacgt ggccaataaa
     6121 attgtctctg aatttcaaaa ggcatttgga tctgtgtcat ccaatggcaa ctccctaaaa
     6181 gctgatgcag ttattctttt gattggtcct tggaaccacc ctggtttttg tactttccaa
     6241 gtctgtgatt cctcaaacta cccattgtct ttccggtact tgatttttgc ctcctgttgg
     6301 tcagttgctt gcaagtaaag aaacaatcat acagaatttg gtacgaagat tgggtaatgg
     6361 gcattagaat ctttggaaaa atcaggtatt gggagttgct ttttggatga gatggggcga
     6421 ataagactta tattctagac tggaaagcat ctcatggtgt gcgatgagca aacgcctgat
     6481 tattcattat agtcacctgg gatgaataga ggtctagggt tctggataat gataatttaa
     6541 ggaggatgga gaatgctgaa tccaaaaggt atatgtaata ctggtatcta actgcttgga
     6601 ataacttaaa gtttagctct tgaatttcta gcattaaggc aaaaaaaatt cacctaaggg
     6661 attttgtatg atattgttga aagatgtctt acattgttta aagtcatagg gttaagatgg
     6721 ctcataacca aatttagaga ctatttttat gcattgttaa agtggaatgc tggttaaatt
     6781 ttatacttta ttcacaagag tcactgtgaa ttgaattgtg aattcagttc tgaattgtgt
     6841 tcccaccagc accaccaaat gctggcctct accaccacca aatttacttg ttgaagtcct
     6901 aaaccccaac atgactgtat ttggacataa ggcctttaag aaactaaggt taagttaggc
     6961 cataagagtg aggccctaat cccataggac tagtgtcctt ataagaggaa gagacaccag
     7021 aggtttgtct ctccacatgt gcacagagga aatgctgtgt aaggacacaa caagaatgct
     7081 gccatctgca agccaggagg agagacctca ccaggaacca gccctgccag caccttgatc
     7141 ttggactttt aatctccagg actgtgagaa aataaatgtt ggttgtttaa gcca
//
LOCUS       NM_001001669            4943 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens Rho guanine nucleotide exchange factor 37 (ARHGEF37),
            mRNA.
ACCESSION   NM_001001669
VERSION     NM_001001669.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4943)
  AUTHORS   Viplav A, Saha T, Huertas J, Selenschik P, Ebrahimkutty MP, Grill D,
            Lehrich J, Hentschel A, Biasizzo M, Mengoni S, Ahrends R, Gerke V,
            Cojocaru V, Klingauf J and Galic M.
  TITLE     ArhGEF37 assists dynamin 2 during clathrin-mediated endocytosis
  JOURNAL   J Cell Sci 132 (9) (2019)
   PUBMED   30926623
  REMARK    GeneRIF: ArhGEF37 was identified as a constituent of
            clathrin-mediated endocytosis: ArhGEF37 accumulated at dynamin
            2-rich late endocytic sites. Endocytosis rates increased in the
            presence of ArhGEF37. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4943)
  CONSRTM   GENDEP Investigators; MARS Investigators; STAR*D Investigators
  TITLE     Common genetic variation and antidepressant efficacy in major
            depressive disorder: a meta-analysis of three genome-wide
            pharmacogenetic studies
  JOURNAL   Am J Psychiatry 170 (2), 207-217 (2013)
   PUBMED   23377640
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.145398.1,
            SRR1803614.2098.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000333677.7/ ENSP00000328083.6
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC021078.5, BC041325.1, BF508325.1, AK123597.1, BF510234.1,
            AK023814.1 and AC022100.7.
            On Nov 22, 2018 this sequence version replaced NM_001001669.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4943
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..4943
                     /gene="ARHGEF37"
                     /note="Rho guanine nucleotide exchange factor 37"
                     /db_xref="GeneID:389337"
                     /db_xref="HGNC:HGNC:34430"
     CDS             139..2166
                     /gene="ARHGEF37"
                     /note="Rho guanine nucleotide exchange factor (GEF) 37"
                     /codon_start=1
                     /product="rho guanine nucleotide exchange factor 37"
                     /protein_id="NP_001001669.2"
                     /db_xref="CCDS:CCDS43385.1"
                     /db_xref="GeneID:389337"
                     /db_xref="HGNC:HGNC:34430"
                     /translation="MAKHGADEPSSRSGSPDREGRASEDRSLLHQRLAVRELIDTEVSY
                     LHMLQLCASDIRSRLQQLPQGDLDVLFSNIDDIIKVNSRFLHDLQETASKEEEQVQLVG
                     NIFLEFQEELEQVYKVYCASYDQALLLVDTYRKEPELQRHIQGIVEAVVPQAGSSGLSF
                     LLVIPLQRITRYPLLLQKILENTVPDASAYPVLQRAVSALQDVNTNINEYKMRKEVASK
                     YTKVEQLTLRERLARINTHTLSKKTTRLSQLLKQEAGLIPRTEDKEFDDLEERFQWVSL
                     CVTELKNNVAAYLDNLQAFLYFRPHEYNLDIPEGPAVQYCNLARDLHLEAFLKFKQRLE
                     GLVWQPLCSLAKALLGPQNLIKKRLDKLLDFERVEEKLLEVGSVTYQEEAARHTYQALN
                     SLLVAELPQFNQLVMQWLGQIMCTFVTLQRDLAKQVLQRAEGSMAQLPHHHVPEPAFRK
                     LVEDALGRTSNQLRSFQETFEKVQPPPTTQPLLPGSERQVQALLSRYGPGKLYQVTSNI
                     SGTGTLDLTLPRGQIVAILQNKDTKGNSGRWLVDTGGHRGYVPAGKLQLYHVVPSAEEL
                     RRQAGLNKDPRCLTPEPSPALVPSIPTMNQVIAAYPFVARSSHEVSLQAGQPVTILEAQ
                     DKKGNPEWSLVEVNGQRGYVPSGFLARARSPVLWGWSLPS"
     misc_feature    139..216
                     /gene="ARHGEF37"
                     /note="propagated from UniProtKB/Swiss-Prot (A1IGU5.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4920..4925
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGEF37"
                     /note="hexamer: AATAAA"
     polyA_site      4943
                     /gene="ARHGEF37"
                     /note="major polyA site"
ORIGIN
        1 gggcacagcc acccggagcg gcgcgggtgc cgggagctgg gcgacgcgcc cctcctgccc
       61 cggctgcgct gttgcccggg cggccgacct ccgtgcgtga gcgccggcag gcaccttgcg
      121 cgcgcggaac ctgctgacat ggccaagcat ggagccgacg agccatcctc caggtcaggg
      181 agtccggaca gggaaggtag ggcctctgag gacagatcgc tgcttcatca gaggctggct
      241 gtccgggagc tcatcgacac tgaggtctcc tacttgcaca tgctccagct ctgtgcctct
      301 gacatcagga gccgcctcca gcagttgccg cagggagatc tggatgtcct gttctcaaac
      361 attgatgata tcatcaaagt gaacagcaga ttcctccatg atctgcagga gacagcctcc
      421 aaggaagagg aacaagtgca gctagttggt aacatatttc tggaattcca agaggagttg
      481 gagcaagtct ataaggtcta ctgtgccagc tacgaccagg ccttgctact ggtggacacg
      541 taccggaagg agccggagct gcagcggcac atccagggca tcgttgaggc ggtggtgccg
      601 caagctggat cttcaggcct cagtttcttg ctggtaattc ctctgcagag gatcaccagg
      661 tacccactgc tgctgcagaa aatcctggag aacacagtcc ctgatgccag tgcctatcct
      721 gtccttcaga gggctgtctc tgccctccag gacgtgaaca ccaatatcaa tgagtacaag
      781 atgcgcaagg aagtggcctc caagtacacc aaggtagagc agctgaccct ccgggagcgg
      841 ctggcccgca tcaacacaca caccctctcc aagaagacca cccggctgag ccagctgctg
      901 aagcaggagg cggggctgat ccccaggaca gaagacaagg aatttgatga tttagaagag
      961 aggttccagt gggtgtctct gtgtgtgact gagctgaaga acaacgtggc tgcttacctg
     1021 gacaatctgc aggctttcct ctacttcagg ccgcacgaat acaatctgga catccccgag
     1081 gggcctgcag tgcagtattg caatttggca agagaccttc accttgaggc cttcctgaaa
     1141 tttaagcaac ggctagaagg cctggtgtgg cagccactgt gcagcctggc caaagccctg
     1201 cttggccctc agaacctgat caagaagcgt ctggacaagc tactggactt tgagcgggtg
     1261 gaagagaagc tgctggaggt gggcagtgtg acctaccagg aggaggccgc ccggcacaca
     1321 taccaggcac tcaactcgct gctagtggct gagctcccac agtttaacca gctggtcatg
     1381 cagtggctgg gccagatcat gtgcacattc gtgaccctcc agagggacct tgcaaagcaa
     1441 gtgctgcaga gggcagaggg aagcatggcc cagctgcccc accaccacgt cccagagcct
     1501 gccttcagga agctggtgga ggacgcactg ggccggacga gtaaccagct tcgctccttt
     1561 caagagacct ttgagaaagt gcagccacct cccaccacac aaccgctcct tccagggtct
     1621 gaacgccagg tgcaggctct cctgagcagg tatggccctg ggaagctgta ccaggtgaca
     1681 agcaacatca gtgggactgg gactctggac ctgactctgc ctcggggcca aatcgtggcc
     1741 atccttcaaa acaaggacac caaaggcaac agcggccgct ggctggtgga caccggggga
     1801 catcgtgggt atgtgccggc tgggaaacta cagctgtacc atgtggtccc cagtgcagag
     1861 gagctcagaa ggcaggcggg gctgaacaaa gacccccgat gtctaacacc ggagcccagc
     1921 ccagctctag tgccctctat tcccaccatg aaccaggtca tagccgcgta cccttttgtg
     1981 gccagaagca gccatgaagt gagcctgcag gcaggccagc ctgtgaccat cctggaggcc
     2041 caggacaaga aggggaaccc tgagtggagc ctggtggaag tgaatggaca gaggggttat
     2101 gtgccttctg gcttcttggc cagggctcgg agcccagttc tgtggggctg gagtctgccc
     2161 tcttagggta ccctctttgg agcctacatt gccaaatgat gggggaggct tagaggctct
     2221 gaccctgggg ggaaaagaag caaaggaaag gtggaggtgg aagggaagac caggccaggg
     2281 tgggtgaagc acactcagga ggcagccaga agacatgggc gggcctcgca gagtgcttgg
     2341 tgtggtgggg gcacaggagg ctccagccag gactgctcat tatgtctgca taaagaactc
     2401 attccgacct ggggtcacaa tgcacttgga cagcaggtca cagctgattg gccaggactc
     2461 tccataggtt atggccagtc ttagctgtgc ctgcatccgg gcctgcctgt gggcgtgggt
     2521 cacacgggat aatgttacct gcgtgctgtg tggttgcagg aagcgggttc tggaggagtc
     2581 cagaactgcc tggtcagaca gttcacttcc tacacatggt atcaggagac atcataacca
     2641 atgagtcagc ttttatttct ctatgctgga agctgagttt atcttgggca gtgacccact
     2701 gggagccctc tcaagtgggg aagccatgga tttatcggtg tagcagagag gttcccaaga
     2761 ctcttgactg gtcctgggag tgggtgtgac caagtcatag ttctggaatg tgtgtaggca
     2821 aattcagagg ctgttccagg gaagagggga ttttgatact gtgttaggtg gggtgtgtga
     2881 ggctgttggc agcaggtgaa cagctactgc tgtgttctca ggactaggga acaaaggggt
     2941 atgcaaatca tagaggaaac tctgggaagg cggtgataag gcctggtggg tggggaggtt
     3001 agggaatggc ttgctttcct gtttctggtt agaaggggag ccagggggaa cccccagtgg
     3061 tttcaggtgg cccctgaggt cctggaggca gccgtggatg tgatgcaatt ggctgtggga
     3121 ccttagatgt aggacacaac ttcagtgttc ccatccagaa agacctcact cacagggttg
     3181 tgctgagaat gacgtggggc taagcatgca gagctccctg taaactgtga agtgtgatac
     3241 aaatgtaaat gacagcagtg atctcggggt ggcccccggc atgctgccct cccccacgcc
     3301 catgcctgtg gcagcaaacc ttgttcatca gtatagcttt ctttcctgta acccaggatc
     3361 taccttgggg ggcttctcaa tactgcattc tatgtagcca gcctctttaa cttggtaagt
     3421 gagccacccc attctagaac ctggaaattg gagcccctca aaaacagttc ctgttcaagg
     3481 aggactgacc tgctggggca atgttgggtg cagtgcagtc cctgcttggg gtggtcatgt
     3541 ctaggctgtt gctctgggca aagataagtt gcaagattca cagaaatggg aaaatgtgac
     3601 caagtgtgat cttaacaact gacaaagttt gtaaccaacc caagttagaa tgtgtgtcaa
     3661 acaggaggta gtttagatat gcttccaaga acatgtctgt gttataacca tagtgcctaa
     3721 gcagtgagct ctggtttttg aagggctttt aagaaatata tacatgtctg tgtcagtcta
     3781 taacttgcct cctctgggcc tgttaaagca tgaagactgc atgacacaag agaaatgcaa
     3841 gccctacggt tcctttctca gcagcgaatt cacttgagag gatgctcttg actcattctc
     3901 tctgctcttt cctgctcaga tttctgataa aaatagagag cataggggaa cagataatga
     3961 aataggaaac ccactcgtgg gttccacaga tacctaccga aggcctactg tgtgctagaa
     4021 ttgtagctca ggagttctca gtgtagctgc tcactgaagt taccatggca ggtttcaact
     4081 ggcagaatcc aggctccgtc ccacccagag attctgatga aattggttta gggtgtggct
     4141 cgggcctcag gaattcagaa agcttcccag gtgcttccaa tgtgcagcca gggttaggga
     4201 cctctaccct agacacaaag tattggacag atagacctgg tgccagagat ggccatgagc
     4261 tgtaagctag gacgtgcccc acctgagctc tgcactagct agttcaaaca ggcgctttaa
     4321 aggcagtgtg aaaggggaca gcctgttctg ccaggtctca gaatgtatat ttattaagtg
     4381 ccattaaaag ggacctgaac aaaattggat gtcttgtagg cataagggag gaaaataaaa
     4441 tatacttgga accaagtcta tgtcatgaag ggaaaataaa aatgtattca gtagcacgtg
     4501 ggttatggtt tctcatagac caggggataa gattaaaagt cactgaagag tgggaaaatg
     4561 catgttgaga agatgagaat ggcctgtatt ttctccaggg gaatctgtgt aatgtgcctt
     4621 ttccctctcc aaatgcctag aaccatggca ctgtgtctta tttatttaac cgttgggctg
     4681 tctcatacta aacttgcaaa gatatttgcc tatgaactga acaagacttc caggagttga
     4741 agtctggttc acaagggtac cccttgcctc ctgtgatgga gtgagaactc ttaaacccct
     4801 caggccccaa ctcagttgtg gagatgagga caagattaca atatcaaaag aaagatgaat
     4861 gaattcttgg ttaatatgac gaaccccagc tcaatgagta actgatgtga actgctggga
     4921 ataaaggact tcaaagatgg aaa
//
LOCUS       NM_001001670            4830 bp    mRNA    linear   PRI 27-JUN-2021
DEFINITION  Homo sapiens SPATA31 subfamily D member 1 (SPATA31D1), mRNA.
ACCESSION   NM_001001670
VERSION     NM_001001670.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK128831.1, DB093176.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000344803.3/ ENSP00000341988.2
            RefSeq Select criteria      :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK128831.1 and AL355985.18.
            On May 17, 2019 this sequence version replaced NM_001001670.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4830
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.32"
     gene            1..4830
                     /gene="SPATA31D1"
                     /gene_synonym="FAM75D1"
                     /note="SPATA31 subfamily D member 1"
                     /db_xref="GeneID:389763"
                     /db_xref="HGNC:HGNC:37283"
     misc_feature    33..35
                     /gene="SPATA31D1"
                     /gene_synonym="FAM75D1"
                     /note="upstream in-frame stop codon"
     CDS             48..4778
                     /gene="SPATA31D1"
                     /gene_synonym="FAM75D1"
                     /note="FAM75-like protein FLJ46321; protein FAM75D1; family
                     with sequence similarity 75, member D1"
                     /codon_start=1
                     /product="spermatogenesis-associated protein 31D1"
                     /protein_id="NP_001001670.1"
                     /db_xref="CCDS:CCDS47986.1"
                     /db_xref="GeneID:389763"
                     /db_xref="HGNC:HGNC:37283"
                     /translation="MENILCFLNSYTETGLSPDSHWLDIDPNFICLSGLGLFILYLFYV
                     VLTLYSSPTEKNNDIQKHQGRAKRRRKGGTFKGFPDWKSFQREEEEERKLLSLLKSFGP
                     PVSCSPRGQHHDTNHFRRLLCPDPVCRVCKRATADIQQLLSWESLKDAAPSVSPLASSA
                     SATESSFTLASTPSATPPEDLILSPRPKASPPPPLILSPDLITTLADLFSPSPLRDPLP
                     PQPVSPLDSKFPIDHSPPQQLPFPLLPPHHIERVESSLQPEASLSLNTIFSFGSTLCQD
                     ISQAMNPIDSCARHHGPPIPSALPPEDCTVTQSKSSLTILKTFPEMLSLGGSGGSSTSA
                     PTIKGIDHSHLASSEFTWWQPHAKDSFSSNFVPSDFMEELLTLHSSEAFLGGHSVANLI
                     EPVNISFLSHDILALLERQVKKRGDFLMWKENGKKPGSFPKQLRPNYQLNSSRNMLTSI
                     AVKHDLAESFPFWASKGKLEWQHIHQQPPHSKCFEDHLEQKYVQLFWGLPSLHSESLHP
                     TVLVQRGHSSMFVFFNGITNTSISHESPVLPPPQPLSLPSTQPLPLPQTLPQGQSPHLT
                     QVKSLAQPQSPFRALLPSPLFLIRICGVCFHRPQNEARSLLPSEINHLEWNVLQKVQES
                     LWGLPSVVQKSQEDFCPPAPNPELVRKSFKVHVPISIIPGDFPLSSEVRKKLEQHIRRR
                     LIQRRWGLPRRIHESLSLLRPQSKISELSVSERIHGPLNISLVEGQRCNVLKKSASSFP
                     RSFHERSSNMLSMENVGNYQGYSQETVPKDHLLHGPETSSDKDLRSNSERDLETHMMHL
                     SGNDSGVRLGQKQLENALTVRLSKKFEEINEGRMPGTVHSSWHSVKQTMSLPEKSHSQI
                     KHRNLVTLVSEDHCVDTSQEISFLSSNKQKMLEAHIKTFRMRMLWGLPLKVLESIEIFK
                     SKADLSTSFSHFDLPSSATFISQGDSKDGVSKSRSRSTFQGEKLGTTSSVPILDRPHPV
                     SSPVVQEGQGTLRRQFSDTDHDLIETDSKDGASTSLRRGTTDFQSEKLDSTSSFPILGH
                     SYLVTSPVNQEKQGTLRREFSDTDNDLTESVRTTEDGRQTFLPPPHSIVDEVSQKQTVL
                     ASRCSAELPIMQAGAGCESWDKRKSSFHNVDRLQGSRKTFPVTNALQSQTRNNLTTSKS
                     GSCSLTNVKASTSNETEIFPPRISVPQDPKSSYLKNQMLSQLKLVQRKHSQPQSHFTDM
                     SFALDNLSSKDLLTNSQGISSGDMGTSQVVHVHLEDSGIRVAQKQEPRVPTCVLQKCQV
                     TNFPPAVNRVSPVRPKGGELDGGDAGLGTSQRRRKSLPVHNKTSGEVLGSKSSPTLKTQ
                     PPPENLFRKWMKTSLQWFNKPSISYEEQESSWEKGSSLSSCVQNIGRVIRAAFTGTTEA
                     QKIRKDTREFLEEKLGHRHGIDITCPQEPLSFPVGLGKAQHNPEVHVRAEPVQGCPCNY
                     RAPSCKVTRTKSCSQQAIFVGQNYPTRIRQIIDKDRQPQKVEAFKGKILCQSHPQSMPH
                     RKPVPHPNPTCRRQVSLVCPAVPTSAKSPVFSDVPFLTGQKMLPKHLQGGKFPPTK"
     misc_feature    132..194
                     /gene="SPATA31D1"
                     /gene_synonym="FAM75D1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZQQ2.1);
                     transmembrane region"
     misc_feature    555..638
                     /gene="SPATA31D1"
                     /gene_synonym="FAM75D1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZQQ2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1671..1763
                     /gene="SPATA31D1"
                     /gene_synonym="FAM75D1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZQQ2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2391..2450
                     /gene="SPATA31D1"
                     /gene_synonym="FAM75D1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZQQ2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2901..3146
                     /gene="SPATA31D1"
                     /gene_synonym="FAM75D1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZQQ2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3924..4088
                     /gene="SPATA31D1"
                     /gene_synonym="FAM75D1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZQQ2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4811..4816
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPATA31D1"
                     /gene_synonym="FAM75D1"
                     /note="hexamer: AATAAA"
     polyA_site      4830
                     /gene="SPATA31D1"
                     /gene_synonym="FAM75D1"
                     /note="major polyA site"
ORIGIN
        1 ggcaccctca gtgctcagtt gcttcaggca gctgagctat tcagaccatg gagaatatcc
       61 tctgttttct gaacagctat actgagacag ggctgagccc tgactcacat tggttggata
      121 tcgaccccaa cttcatctgc ttgagtgggt tggggttgtt tatactgtac ttgttctacg
      181 tggtattgac cctgtattcg tcacccaccg aaaaaaataa tgacatccaa aagcatcagg
      241 gcagagccaa gaggagaagg aaaggtggga cattcaaagg tttcccagac tggaaaagtt
      301 tccagagaga agaggaagag gaaaggaagc tgctttctct tctgaaaagc tttggacctc
      361 ctgtttcctg cagtcctcgg ggccagcatc atgataccaa ccactttcgt cgactgttat
      421 gcccagaccc cgtctgtcgg gtgtgtaaga gagcaactgc tgatatccag caactgctgt
      481 cttgggagtc cctgaaagat gctgctccct ctgtgtcccc tttggcttct tcggcttctg
      541 cgactgagtc atcgttcact ctggcttcca ccccctcagc aacccctcca gaagacctaa
      601 tactgtcccc tcggcctaag gcctctccac cacccccctt aattctctca cctgacctga
      661 tcaccacctt agctgactta ttttcaccct caccactgag ggaccctctg ccaccacagc
      721 ctgtttctcc cttggattcc aagttcccca tagaccattc cccaccccaa cagcttccct
      781 ttccccttct cccaccacat cacattgaga gagtggagtc cagcctccaa cctgaagcca
      841 gtttgtctct gaacaccatc ttttcatttg gctccaccct atgccaagat atttcgcagg
      901 ccatgaatcc cattgattct tgtgctcgtc atcacggacc accaatccca tctgctttac
      961 caccggaaga ttgcactgtg actcagtcta aatcaagtct caccatcttg aagacttttc
     1021 cggaaatgtt atctctaggt ggctctggtg ggtcatccac ctctgcccca acaatcaaag
     1081 gcattgacca ttcacacctt gcatcttcag aattcacctg gtggcagcct catgccaagg
     1141 actctttttc ctctaatttt gtgccatctg atttcatgga ggagcttctt acccttcatt
     1201 cttctgaggc ctttttaggg gggcactctg tggccaacct catagagcct gttaacatct
     1261 catttctcag ccatgacatt ctggcactcc tggagagaca agtcaaaaaa aggggtgatt
     1321 tcctgatgtg gaaagaaaat ggaaagaaac caggatcatt cccaaaacaa cttaggccaa
     1381 actaccaact aaattcctca cggaatatgt taacctcaat tgctgttaag catgacttgg
     1441 cagaatcctt tcctttttgg gccagtaaag gcaaactaga atggcagcac atccatcagc
     1501 agcctccaca ctctaaatgc tttgaagacc atttagagca aaaatatgtc cagctcttct
     1561 ggggtctccc atctttgcac agcgagtctc tgcatcctac tgttcttgtc caacgtggcc
     1621 attcctccat gtttgtattc ttcaatggca ttacaaatac atctatatcc catgaatccc
     1681 cagtacttcc ccctccccaa cctctgtcct tgcctagtac ccaaccacta cccttgcctc
     1741 aaaccctgcc ccaaggtcag tccccacatc tcactcaggt gaagtccctg gctcaacctc
     1801 aatctccatt ccgagcccta ctacctagtc ctctattcct gattaggatc tgtggagtgt
     1861 gttttcatag accccagaac gaggcacggt ctcttttgcc atctgaaatt aaccatctgg
     1921 agtggaacgt gttgcagaaa gtgcaggaaa gtttgtgggg cttaccctct gtggttcaaa
     1981 aatcccagga agacttttgt cctccagctc ccaatcctga attggtcaga aagtccttca
     2041 aggtccatgt tccgatctcc atcattcctg gagattttcc actcagctct gaggtaagga
     2101 agaaactaga gcaacacatt cgaaggaggc tcatccagcg cagatggggc ctgccccgca
     2161 gaatccatga gtctctgtca ttgctacgtc ctcagagcaa aatttcagag ctatctgtgt
     2221 cagagagaat tcatggaccg ttaaatatct ctttggttga gggtcagagg tgcaatgttc
     2281 taaagaagtc cgcatcaagc ttccctagaa gcttccacga gaggagctca aatatgcttt
     2341 ccatggagaa tgtggggaat tatcagggat acagccagga gactgtccca aaagatcacc
     2401 tgttgcatgg tccggagact tcttcagaca aggatctgag gtctaactct gagagagacc
     2461 tagaaactca tatgatgcat ctgtcaggga atgactcagg ggtgagacta ggtcagaaac
     2521 aacttgaaaa tgccctgaca gtacgtttga gcaagaaatt tgaggaaatc aatgagggtc
     2581 gaatgcctgg gactgtgcat agttcatggc actcagtcaa gcagacaatg tctcttcctg
     2641 agaaatccca cagccaaatt aaacatcgaa atctggtaac attggtgagt gaggaccact
     2701 gcgttgatac ttcccaggaa atttccttcc ttagttccaa caaacaaaag atgttggaag
     2761 cccatattaa aactttccgt atgaggatgc tgtggggcct tcccctcaag gtccttgaat
     2821 ccatagaaat cttcaaatcg aaagcggacc tttccacttc cttttcccat ttcgaccttc
     2881 cctcctcagc caccttcatc tctcagggag attccaaaga tggggtctct aagtcccgta
     2941 gtcgaagcac ttttcaagga gaaaagttgg gaacaacaag ctcagtcccc atccttgatc
     3001 gtcctcaccc tgtctcctca cctgtcgtcc aagaagggca ggggaccctg agaagacaat
     3061 tttctgatac tgaccatgac cttatagaga cagattccaa agacggggcc tccacatccc
     3121 ttagaagagg tactacagat tttcaaagcg aaaaattaga ttcaacaagc tcattcccca
     3181 tcctcggtca ttcttacctt gtcacttcac ctgtcaacca agaaaagcag gggaccctga
     3241 gaagagaatt ctctgatact gacaatgatc ttacagaaag tgtccggaca acagaggatg
     3301 gcagacagac ttttctgccc ccgccacaca gcatcgtaga cgaagtcagt cagaaacaga
     3361 ctgtactggc cagtagatgc agcgcagagc tgcccataat gcaagctgga gctggctgtg
     3421 agtcatggga taagagaaag agttcctttc ataatgtaga caggcttcag ggcagtagaa
     3481 agacctttcc tgtcaccaat gctcttcaat cacaaactag gaacaacttg acaaccagca
     3541 agtcaggaag ctgctcactg acaaatgtga aagcaagcac ttccaatgaa actgaaattt
     3601 tcccaccaag aatatcagtt cctcaagatc ctaaatcatc ataccttaaa aatcagatgt
     3661 tgagccagtt aaagttggtc cagaggaagc atagccaacc tcagagccat ttcactgaca
     3721 tgtcttttgc cttagataac ttgagttcca aggacttact gactaattcc cagggcatct
     3781 cgagtgggga catgggaact tcccaggtgg tgcatgtcca cttggaggac agcggaatcc
     3841 gtgtggcaca gaagcaggag cccagggtcc ctacctgtgt cttacagaag tgtcaagtta
     3901 cgaatttccc accagctgta aacagagtga gtcctgtgag acccaaagga ggagagcttg
     3961 atggagggga tgcagggctg gggacatccc aacgcaggag aaagagcctc cctgttcata
     4021 acaagacatc aggggaggtg cttgggagca aatcttcccc aaccttgaaa acacagcctc
     4081 ctcctgaaaa ccttttcaga aaatggatga agacctcttt gcagtggttt aataaaccca
     4141 gcatatcata tgaagaacaa gaaagttcct gggaaaaggg tagctccctg tcatcatgtg
     4201 tgcagaatat tggtcgagtt ataagagctg cctttactgg gactactgaa gctcagaaaa
     4261 ttaggaaaga cactagggag ttcctagaag agaagctggg gcataggcat gggatagata
     4321 tcacctgtcc ccaagagccc ctttccttcc cagtggggct tgggaaagct cagcacaacc
     4381 cagaagtgca tgtcagagca gagcctgtcc agggctgtcc ctgcaactac agggctccct
     4441 cctgcaaagt gacacgtacc aaatcttgca gccaacaagc tatctttgtt ggccagaatt
     4501 atcctacaag gattagacag atcatagaca aggacagaca gccccagaaa gttgaggcat
     4561 ttaaggggaa gatactgtgt caaagccatc cccaatccat gccccacagg aagcctgtgc
     4621 cacatccaaa ccccacttgc cggcgtcagg tcagcctggt gtgtccagcc gtcccaacca
     4681 gtgctaaaag ccctgtgttt agtgatgtgc ctttcctaac tggacagaaa atgcttccaa
     4741 agcatttaca gggaggaaaa tttcccccca caaaataatt cactccttgt tgagaatctt
     4801 gattctcccc aataaatgtt ccaataagaa
//
LOCUS       NM_001001671            4879 bp    mRNA    linear   PRI 16-JUN-2023
DEFINITION  Homo sapiens mitogen-activated protein kinase kinase kinase 15
            (MAP3K15), mRNA.
ACCESSION   NM_001001671
VERSION     NM_001001671.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4879)
  AUTHORS   Nag A, Dhindsa RS, Mitchell J, Vasavda C, Harper AR, Vitsios D,
            Ahnmark A, Bilican B, Madeyski-Bengtson K, Zarrouki B, Zoghbi AW,
            Wang Q, Smith KR, Alegre-Diaz J, Kuri-Morales P, Berumen J,
            Tapia-Conyer R, Emberson J, Torres JM, Collins R, Smith DM, Challis
            B, Paul DS, Bohlooly-Y M, Snowden M, Baker D, Fritsche-Danielson R,
            Pangalos MN and Petrovski S.
  TITLE     Human genetics uncovers MAP3K15 as an obesity-independent
            therapeutic target for diabetes
  JOURNAL   Sci Adv 8 (46), eadd5430 (2022)
   PUBMED   36383675
  REMARK    GeneRIF: Human genetics uncovers MAP3K15 as an obesity-independent
            therapeutic target for diabetes.
REFERENCE   2  (bases 1 to 4879)
  AUTHORS   Watanabe K, Morishita K, Zhou X, Shiizaki S, Uchiyama Y, Koike M,
            Naguro I and Ichijo H.
  TITLE     Cells recognize osmotic stress through liquid-liquid phase
            separation lubricated with poly(ADP-ribose)
  JOURNAL   Nat Commun 12 (1), 1353 (2021)
   PUBMED   33649309
  REMARK    GeneRIF: Macromolecular crowding induces liquid-demixing condensates
            of ASK3 under hyperosmotic stress, which transduce osmosensing
            signal into ASK3 inactivation. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4879)
  AUTHORS   Trevelyan SJ, Brewster JL, Burgess AE, Crowther JM, Cadell AL,
            Parker BL, Croucher DR, Dobson RCJ, Murphy JM and Mace PD.
  TITLE     Structure-based mechanism of preferential complex formation by
            apoptosis signal-regulating kinases
  JOURNAL   Sci Signal 13 (622) (2020)
   PUBMED   32156783
  REMARK    GeneRIF: Structure-based mechanism of preferential complex formation
            by apoptosis signal-regulating kinases. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 4879)
  AUTHORS   Watanabe K, Umeda T, Niwa K, Naguro I and Ichijo H.
  TITLE     A PP6-ASK3 Module Coordinates the Bidirectional Cell Volume
            Regulation under Osmotic Stress
  JOURNAL   Cell Rep 22 (11), 2809-2817 (2018)
   PUBMED   29539411
  REMARK    GeneRIF: ASK3 controls both RVD and RVI under osmotic stress.
REFERENCE   5  (bases 1 to 4879)
  AUTHORS   Maruyama J, Kobayashi Y, Umeda T, Vandewalle A, Takeda K, Ichijo H
            and Naguro I.
  TITLE     Osmotic stress induces the phosphorylation of WNK4 Ser575 via the
            p38MAPK-MK pathway
  JOURNAL   Sci Rep 6, 18710 (2016)
   PUBMED   26732173
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4879)
  AUTHORS   Naguro I, Umeda T, Kobayashi Y, Maruyama J, Hattori K, Shimizu Y,
            Kataoka K, Kim-Mitsuyama S, Uchida S, Vandewalle A, Noguchi T,
            Nishitoh H, Matsuzawa A, Takeda K and Ichijo H.
  TITLE     ASK3 responds to osmotic stress and regulates blood pressure by
            suppressing WNK1-SPAK/OSR1 signaling in the kidney
  JOURNAL   Nat Commun 3, 1285 (2012)
   PUBMED   23250415
REFERENCE   7  (bases 1 to 4879)
  AUTHORS   Kaji T, Yoshida S, Kawai K, Fuchigami Y, Watanabe W, Kubodera H and
            Kishimoto T.
  TITLE     ASK3, a novel member of the apoptosis signal-regulating kinase
            family, is essential for stress-induced cell death in HeLa cells
  JOURNAL   Biochem Biophys Res Commun 395 (2), 213-218 (2010)
   PUBMED   20362554
  REMARK    GeneRIF: 'ASK3 gene' is a novel member of apoptosis
            signal-regulating kinases and that it plays a pivotal role in the
            signal transduction pathway implicated in apoptotic cell death
            triggered by cellular stresses.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.580101.1,
            SRR14038192.3016630.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000338883.9/ ENSP00000345629.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL732423.12 and AL732326.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 30, 2020 this sequence version replaced NM_001001671.3.
            Summary: The protein encoded by this gene is a member of the
            mitogen-activated protein kinase (MAPK) family. These family
            members function in a protein kinase signal transduction cascade,
            where an activated MAPK kinase kinase (MAP3K) phosphorylates and
            activates a specific MAPK kinase (MAP2K), which then activates a
            specific MAPK. This MAP3K protein plays an essential role in
            apoptotic cell death triggered by cellular stresses. [provided by
            RefSeq, Jul 2010].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4879
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.12"
     gene            1..4879
                     /gene="MAP3K15"
                     /gene_synonym="ASK3; bA723P2.3"
                     /note="mitogen-activated protein kinase kinase kinase 15"
                     /db_xref="GeneID:389840"
                     /db_xref="HGNC:HGNC:31689"
                     /db_xref="MIM:300820"
     misc_feature    179..181
                     /gene="MAP3K15"
                     /gene_synonym="ASK3; bA723P2.3"
                     /note="upstream in-frame stop codon"
     CDS             248..4189
                     /gene="MAP3K15"
                     /gene_synonym="ASK3; bA723P2.3"
                     /EC_number="2.7.11.25"
                     /note="apoptosis signal-regulating kinase 3; MEKK 15; MEK
                     kinase 15; MAPK/ERK kinase kinase 15"
                     /codon_start=1
                     /product="mitogen-activated protein kinase kinase kinase
                     15"
                     /protein_id="NP_001001671.3"
                     /db_xref="CCDS:CCDS35212.2"
                     /db_xref="GeneID:389840"
                     /db_xref="HGNC:HGNC:31689"
                     /db_xref="MIM:300820"
                     /translation="MESGGGNAPAGALGAASESPQCPPPPGVEGAAGPAEPDGAAEGAA
                     GGSGEGESGGGPRRALRAVYVRSESSQGGAAGGPEAGARQCLLRACEAEGAHLTSVPFG
                     ELDFGETAVLDAFYDADVAVVDMSDVSRQPSLFYHLGVRESFDMANNVILYHDTDADTA
                     LSLKDMVTQKNTASSGNYYFIPYIVTPCADYFCCESDAQRRASEYMQPNWDNILGPLCM
                     PLVDRFISLLKDIHVTSCVYYKETLLNDIRKAREKYQGEELAKELARIKLRMDNTEVLT
                     SDIIINLLLSYRDIQDYDAMVKLVETLEMLPTCDLADQHNIKFHYAFALNRRNSTGDRE
                     KALQIMLQVLQSCDHPGPDMFCLCGRIYKDIFLDSDCKDDTSRDSAIEWYRKGFELQSS
                     LYSGINLAVLLIVAGQQFETSLELRKIGVRLNSLLGRKGSLEKMNNYWDVGQFFSVSML
                     AHDVGKAVQAAERLFKLKPPVWYLRSLVQNLLLIRRFKKTIIEHSPRQERLNFWLDIIF
                     EATNEVTNGLRFPVLVIEPTKVYQPSYVSINNEAEERTVSLWHVSPTEMKQMHEWNFTA
                     SSIKGISLSKFDERCCFLYVHDNSDDFQIYFSTEEQCSRFFSLVKEMITNTAGSTVELE
                     GETDGDTLEYEYDHDANGERVVLGKGTYGIVYAGRDLSNQVRIAIKEIPERDSRYSQPL
                     HEEIALHKYLKHRNIVQYLGSVSENGYIKIFMEQVPGGSLSALLRSKWGPMKEPTIKFY
                     TKQILEGLKYLHENQIVHRDIKGDNVLVNTYSGVVKISDFGTSKRLAGVNPCTETFTGT
                     LQYMAPEIIDQGPRGYGAPADIWSLGCTIIEMATSKPPFHELGEPQAAMFKVGMFKIHP
                     EIPEALSAEARAFILSCFEPDPHKRATTAELLREGFLRQVNKGKKNRIAFKPSEGPRGV
                     VLALPTQGEPMATSSSEHGSVSPDSDAQPDALFERTRAPRHHLGHLLSVPDESSALEDR
                     GLASSPEDRDQGLFLLRKDSERRAILYKILWEEQNQVASNLQECVAQSSEELHLSVGHI
                     KQIIGILRDFIRSPEHRVMATTISKLKVDLDFDSSSISQIHLVLFGFQDAVNKILRNHL
                     IRPHWMFAMDNIIRRAVQAAVTILIPELRAHFEPTCETEGVDKDMDEAEEGYPPATGPG
                     QEAQPHQQHLSLQLGELRQETNRLLEHLVEKEREYQNLLRQTLEQKTQELYHLQLKLKS
                     NCITENPAGPYGQRTDKELIDWLRLQGADAKTIEKIVEEGYTLSDILNEITKEDLRYLR
                     LRGGLLCRLWSAVSQYRRAQEASETKDKA"
     polyA_site      4332
                     /gene="MAP3K15"
                     /gene_synonym="ASK3; bA723P2.3"
     regulatory      4366..4371
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAP3K15"
                     /gene_synonym="ASK3; bA723P2.3"
                     /note="hexamer: TATAAA"
     polyA_site      4396
                     /gene="MAP3K15"
                     /gene_synonym="ASK3; bA723P2.3"
     regulatory      4860..4865
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAP3K15"
                     /gene_synonym="ASK3; bA723P2.3"
                     /note="hexamer: AATAAA"
     polyA_site      4879
                     /gene="MAP3K15"
                     /gene_synonym="ASK3; bA723P2.3"
                     /note="major polyA site"
ORIGIN
        1 ctctttctct ccggccttca aagggcgctg ggggccttgg ggcctgagcg tcaggctgca
       61 gcctaggggt actgccgtct tcggcccgcc gcggggtccc cggtgcgctc cgttccctcg
      121 attcccgtag cgtcccgcgc ttcaggagca ggtgccggga ccgcctgcgc ggctgctgta
      181 acttgtgcct cctagcggat cgcagccgct ggccactcgc ccaggggaag ggcgcgcagg
      241 cgggcacatg gagagcggcg gtgggaatgc tccggccggg gccctcgggg cggcgagcga
      301 gtcccctcag tgcccgccgc cgccgggggt ggagggcgcg gccgggccgg cggagcccga
      361 cggggcggcg gagggcgcgg caggcggcag cggcgagggc gagagtgggg gcgggccgcg
      421 gcgggctctg cgggcagtat acgtgcgcag tgagagctcc cagggcggcg cggccggcgg
      481 cccggaggct ggggcgcggc agtgcctgct gcgggcctgc gaggccgagg gcgctcacct
      541 cacctccgtg cccttcgggg agctggactt cggggagacg gccgtgctcg acgccttcta
      601 cgacgcagat gttgctgtgg tagacatgag cgatgtctcc agacagcctt ccctcttcta
      661 ccatcttgga gtccgagaaa gctttgacat ggccaataat gtgatcttgt accatgacac
      721 cgatgccgac actgctctct ctttgaagga catggtaact caaaaaaaca cagcatccag
      781 tggaaattat tatttcatcc catacatcgt gacaccgtgc gctgattatt tttgctgcga
      841 gagtgatgcc cagagacgag cctccgagta catgcagccc aactgggaca acatcctggg
      901 cccgctgtgc atgcctttgg tggacaggtt cattagcctc cttaaggaca tccacgtgac
      961 ctcatgtgtt tattacaaag aaaccttgtt aaatgacatc cggaaagcca gagagaaata
     1021 ccaaggtgag gaactggcga aggagctagc tcggatcaag ctccgcatgg ataatactga
     1081 ggttctgacc tcagacatca tcattaactt actcctgtcc taccgtgata tccaggacta
     1141 tgatgcgatg gtgaagctgg tggaaacact ggagatgctg cctacgtgtg atttggccga
     1201 tcagcataac attaaattcc actatgcgtt tgcactgaat aggagaaaca gcacaggtga
     1261 ccgtgagaag gctctgcaga tcatgctcca ggttctgcag agctgtgatc acccgggccc
     1321 cgacatgttc tgcctgtgtg ggaggatcta caaggacatc ttcttggatt cagactgcaa
     1381 agatgacacc agccgcgaca gcgccattga gtggtatcgc aaagggtttg aactccagtc
     1441 atccctctat tcgggaatta atcttgcagt tttgctgatt gttgctggac aacaatttga
     1501 aacttccttg gaactaagga aaataggtgt ccggctgaac agtttgttgg gaagaaaagg
     1561 gagcttggag aaaatgaaca attactggga tgtgggtcag ttcttcagcg tcagcatgct
     1621 ggcccatgat gtcgggaaag ccgtccaggc agcagagagg ttgttcaaac tgaaacctcc
     1681 agtctggtac ctgcgatcat tagttcagaa cttgttacta attcggcgct tcaagaaaac
     1741 cattattgaa cactcgccca ggcaagagcg gctgaacttc tggttagata taatttttga
     1801 ggcaacaaat gaagtcacta atggactcag atttccagtt ctggtcatag agccaaccaa
     1861 agtgtaccag ccttcttatg tttccataaa caatgaagcc gaggagagaa cagtttcttt
     1921 atggcatgtc tcacccacag aaatgaaaca gatgcacgaa tggaatttta cagcctcttc
     1981 cataaaggga ataagcctat caaagtttga tgaaaggtgt tgttttcttt atgtccatga
     2041 taattctgat gactttcaaa tctacttttc caccgaagag cagtgcagta gatttttctc
     2101 tttggtcaaa gagatgataa ccaatacagc aggcagtacg gtggagctgg agggagagac
     2161 cgatggagac accttggagt atgagtatga ccatgatgca aatggtgaga gagttgtctt
     2221 ggggaaaggc acgtatggga ttgtgtatgc tggccgagat ctgagcaatc aagtgcgaat
     2281 agccatcaaa gaaatcccgg agagagatag caggtattct cagcctctgc acgaggagat
     2341 agccctgcac aagtacctta agcaccgcaa tatcgttcag tacctgggct ctgtttcaga
     2401 gaacggctac attaagatat ttatggagca ggtgcctgga ggaagccttt ctgctcttct
     2461 gcgatccaaa tgggggccga tgaaggaacc gacaatcaag ttttacacca aacagatcct
     2521 ggagggcctt aagtatcttc atgaaaacca gatcgtgcac agagacataa agggcgataa
     2581 tgttctggtg aacacctaca gcggagtggt gaaaatctcc gattttggaa cctcgaaacg
     2641 tcttgcgggt gtgaacccct gcacagagac ttttactggc accctgcagt acatggcacc
     2701 tgagataatt gaccaagggc ctcgcggata tggtgcccca gccgatatct ggtccctggg
     2761 ctgcaccatc attgagatgg ccaccagcaa gcctccgttc catgagcttg gtgagccgca
     2821 ggcagccatg ttcaaagtgg gcatgtttaa gatccaccct gagattccag aagccctttc
     2881 agctgaagcc cgagccttca ttttatcctg tttcgagcct gacccccaca aacgtgccac
     2941 cactgctgag ctactgagag agggtttctt aaggcaggtg aacaagggca agaagaaccg
     3001 aattgccttc aagccctcag aaggtccccg cggtgtcgtc ctggccctgc ccacacaggg
     3061 agagcccatg gccaccagca gcagcgagca cggctctgtc tccccagact ccgacgccca
     3121 gcctgacgca ctctttgaga ggacccgggc gcccaggcac caccttggcc acctcctcag
     3181 tgttccagac gagagctcag ccttggaaga ccggggcttg gcctcgtccc cggaggacag
     3241 ggaccagggc ctcttcctgc tacgcaagga cagtgagcgc cgtgccatcc tgtacaaaat
     3301 cctctgggag gagcagaacc aggtggcttc caacctgcag gagtgtgtgg cccagagttc
     3361 cgaagagttg catctctcag ttggacacat caagcaaatc attgggatcc tgagggactt
     3421 catccgctcc ccagagcacc gggtgatggc gaccacaata tcaaagctca aggtggacct
     3481 ggactttgac agctcgtcca tcagtcagat tcacctggtg ctgttcggat ttcaggatgc
     3541 cgtaaataaa attttgagga accacttaat taggccccac tggatgttcg cgatggacaa
     3601 catcatccgc cgagcggtgc aggccgcggt caccattctc atcccagagc tccgagccca
     3661 ctttgagcct acctgtgaga ctgaaggggt agataaggac atggatgaag cggaagaggg
     3721 ctatccccca gccaccggac ctggccagga ggcccagccc caccagcagc acctgagcct
     3781 ccagctgggt gagctcagac aggagaccaa cagacttttg gaacacctag ttgaaaaaga
     3841 gagagagtac cagaatcttc tgcggcaaac tctagaacag aaaactcaag aattgtatca
     3901 ccttcagtta aaattaaaat cgaattgtat tacagagaac ccagcaggcc cctacgggca
     3961 gagaacagat aaagagctta tagactggtt gcggctgcaa ggagctgatg caaagacaat
     4021 tgaaaagatt gttgaagagg gttatacact ttcggatatt cttaatgaga tcactaagga
     4081 agatctaaga taccttcgac tacggggtgg tctcctctgc agactctgga gtgcggtctc
     4141 ccagtacaga agggctcagg aggcctcaga aaccaaagac aaggcttgat accaatcagc
     4201 taagctgtgg cagagtgtcc caccacgcta catgttttgt taaagcttct gttagtgtat
     4261 acacgaattc cgctgtgttt acatatttaa aaatgccatt gttcaattaa tagtttaaga
     4321 acttgtttta aatactgtcc tgagtttctt ttgaaacctg ttatttataa acatagaact
     4381 gtgtgtattg tgaaaacagt gagccttggt tttgacctcc cggaatatta ggaaattcac
     4441 ttgtagtccc agctatgcag gaggctgagg tgggaggatt gcttgagccc aggaggtgtg
     4501 gaggctgcag tgagccatga tcacaccact gcactccagc ctgggcaaca gagcccgacc
     4561 ctgtctcaaa aaaagtacac ccttcagcac ttgctggaat ggtgaaacaa acaaggggta
     4621 tttaacaaac atggaagctg ggacactgcc tcagaactgg tatggtactt caatttgaga
     4681 aacacaaaac tgatacgaat gtgccttgta gttaatgttt gatatgaaca gaaaatagct
     4741 tcatatttat actgaatgtg taagtagaga aaactaagtt atgtggcctt tgaaatgatt
     4801 acaaaattgg aatgattaca aaagtcttat tttaaaatgg aactgtcctc ttgcctgata
     4861 ataaatattg tatcttgta
//
LOCUS       NM_001001674            2119 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily F member 15
            (OR4F15), mRNA.
ACCESSION   NM_001001674
VERSION     NM_001001674.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2119)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 2119)
  AUTHORS   Gilad Y, Bustamante CD, Lancet D and Paabo S.
  TITLE     Natural selection on the olfactory receptor gene family in humans
            and chimpanzees
  JOURNAL   Am J Hum Genet 73 (3), 489-501 (2003)
   PUBMED   12908129
REFERENCE   3  (bases 1 to 2119)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332238.5/ ENSP00000333184.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC107977.13.
            On Aug 4, 2020 this sequence version replaced NM_001001674.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2119
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     gene            1..2119
                     /gene="OR4F15"
                     /note="olfactory receptor family 4 subfamily F member 15"
                     /db_xref="GeneID:390649"
                     /db_xref="HGNC:HGNC:15078"
     misc_feature    82..84
                     /gene="OR4F15"
                     /note="upstream in-frame stop codon"
     CDS             109..1047
                     /gene="OR4F15"
                     /note="olfactory receptor OR15-14"
                     /codon_start=1
                     /product="olfactory receptor 4F15"
                     /protein_id="NP_001001674.1"
                     /db_xref="CCDS:CCDS32342.1"
                     /db_xref="GeneID:390649"
                     /db_xref="HGNC:HGNC:15078"
                     /translation="MNGMNHSVVSEFVFMGLTNSREIQLLLFVFSLLFYFASMMGNLVI
                     VFTVTMDAHLHSPMYFLLANLSIIDMAFCSITAPKMICDIFKKHKAISFRGCITQIFFS
                     HALGGTEMVLLIAMAFDRYMAICKPLHYLTIMSPRMCLYFLATSSIIGLIHSLVQLVFV
                     VDLPFCGPNIFDSFYCDLPRLLRLACTNTQELEFMVTVNSGLISVGSFVLLVISYIFIL
                     FTVWKHSSGGLAKALSTLSAHVTVVILFFGPLMFFYTWPSPTSHLDKYLAIFDAFITPF
                     LNPVIYTFRNKDMKVAMRRLCSRLAHFTKIL"
     misc_feature    121..123
                     /gene="OR4F15"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGB8.1); glycosylation site"
     misc_feature    184..255
                     /gene="OR4F15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB8.1);
                     transmembrane region"
     misc_feature    280..345
                     /gene="OR4F15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB8.1);
                     transmembrane region"
     misc_feature    409..468
                     /gene="OR4F15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB8.1);
                     transmembrane region"
     misc_feature    526..582
                     /gene="OR4F15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB8.1);
                     transmembrane region"
     misc_feature    694..765
                     /gene="OR4F15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB8.1);
                     transmembrane region"
     misc_feature    814..882
                     /gene="OR4F15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB8.1);
                     transmembrane region"
     misc_feature    916..975
                     /gene="OR4F15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB8.1);
                     transmembrane region"
ORIGIN
        1 gtaaggatgg catgaagttc acaatgggag catgataaac tagataaact tcagctgcaa
       61 gaaagactca ggtaagtaac atgaaaactg atcttggagt ctgaggcaat gaatggaatg
      121 aatcactctg tggtatcaga atttgtattc atgggactca ccaactcacg ggagattcag
      181 cttctacttt ttgttttctc tttgttgttc tactttgcga gcatgatggg aaaccttgtc
      241 attgtattca ctgtaaccat ggatgctcat ctgcactccc ccatgtattt cctcctggct
      301 aacctctcaa tcattgatat ggcattttgc tcaattacag cccctaagat gatttgtgat
      361 attttcaaga agcacaaggc catctccttt cggggatgta ttactcagat cttctttagc
      421 catgctcttg ggggcactga gatggtgctg ctcatagcca tggcctttga cagatacatg
      481 gccatatgta aacctctcca ctacctgacc atcatgagcc caagaatgtg tctatacttt
      541 ttagccactt cctctatcat tggccttatc cactcattgg tccaattagt ttttgtggta
      601 gatttacctt tttgtggtcc taatatcttt gacagttttt actgtgatct ccctcggctc
      661 ctcagacttg cctgtaccaa cacccaagaa ctggagttca tggtcactgt caatagtgga
      721 ctcatttctg tgggctcctt tgtcttgctg gtaatttcct acatcttcat tctgttcact
      781 gtttggaaac attcttctgg tggtctagcc aaggccctct ctaccctgtc agctcatgtc
      841 actgtggtca tcttgttctt tgggccactg atgtttttct acacatggcc ttctcccaca
      901 tcacacctgg ataaatatct tgctattttt gatgcattta ttactccttt tctgaatcca
      961 gttatctaca cattcaggaa caaagacatg aaagtggcaa tgaggagact gtgcagtcgt
     1021 cttgcgcatt ttacaaagat tttgtaaatg gcttggctgt caagatgtgt aactatggat
     1081 tactcctcat gctgattgca taaaagaaac tgcaatttca gagaaatact gaagactcag
     1141 gccatactat atgcctgaaa atttatgaaa tcatggtaac aatttcacca ttaaattaga
     1201 agtgatgtta tcctttggca cagtgtgcat caaagtgcta aatattaaat cttaatgtct
     1261 tttgtaacct accactttga aagaccttgt tctaggtgag tgccatgtaa ttgaacaaat
     1321 aacaatacta tgtcttttat tttttctact ggacagatta ttctattgat agacaaacta
     1381 cacattcaat ctgtttacca cctaactcct atttatttat ttatttagtt agttagttac
     1441 ttatttgagt tggagtctcg ctctgtcacc caggctagag tgcaatggca tgatttcagc
     1501 tcactgcaac ctctgcctct ccggttcaag ggttcgagta attctcctgc ctcagcctcc
     1561 tgagggctgg gattacaggc gcccatcaca acccctggct aatttttgta tttttagtag
     1621 agatggagtt tcaccatgtt ggccaggctg gtctggaacc cctgacctct agtgatccac
     1681 ctgcctcggc ctcccaaagt gctgggatta taggcatgag ccaccgcgcc tggcctgttt
     1741 agtatctagc tctcttgatt ttaattcttt ttgttcctaa agtgtttgct ttctattgct
     1801 ccagtctcta catatttttg ccaccttatc aggcttcttt ggccatctac aaaattgtta
     1861 gtcctatatt tagaatattc aaatttaaag ttagagtgga ttaccaacac catctgttcc
     1921 aatcccctca aattacacgt actaaaatcc aagaattgag cagtgactag tttgcccaaa
     1981 ggcacatagc tggaaaccat caaagagagc caggcaccag aaaccatgac tctgattgct
     2041 aggtcagtgc cctttcactt tcagatcaat tttgtttttg atttgatgtt catattccac
     2101 tcttccatct ttatcattt
//
LOCUS       NM_001001683             836 bp    mRNA    linear   PRI 21-APR-2023
DEFINITION  Homo sapiens mediator complex subunit 11 (MED11), transcript variant
            1, mRNA.
ACCESSION   NM_001001683
VERSION     NM_001001683.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 836)
  AUTHORS   Cali E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S,
            Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S,
            Athanasiou-Fragkouli A, Celik T, Narli N, Bianca S, Murphy D, De
            Carvalho Moreira FM, Andrea Accogli, Petree C, Huang K, Monastiri K,
            Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F,
            Striano P, Sahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli
            G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R,
            Salpietro V and Houlden H.
  CONSRTM   SYNaPS Study Group
  TITLE     A homozygous MED11 C-terminal variant causes a lethal
            neurodegenerative disease
  JOURNAL   Genet Med 24 (10), 2194-2203 (2022)
   PUBMED   36001086
  REMARK    GeneRIF: A homozygous MED11 C-terminal variant causes a lethal
            neurodegenerative disease.
REFERENCE   2  (bases 1 to 836)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 836)
  AUTHORS   Tsai KL, Tomomori-Sato C, Sato S, Conaway RC, Conaway JW and
            Asturias FJ.
  TITLE     Subunit architecture and functional modular rearrangements of the
            transcriptional mediator complex
  JOURNAL   Cell 157 (6), 1430-1444 (2014)
   PUBMED   24882805
  REMARK    Erratum:[Cell. 2014 Jul 17;158(2):463]
REFERENCE   4  (bases 1 to 836)
  AUTHORS   Sato S, Tomomori-Sato C, Parmely TJ, Florens L, Zybailov B, Swanson
            SK, Banks CA, Jin J, Cai Y, Washburn MP, Conaway JW and Conaway RC.
  TITLE     A set of consensus mammalian mediator subunits identified by
            multidimensional protein identification technology
  JOURNAL   Mol Cell 14 (5), 685-691 (2004)
   PUBMED   15175163
REFERENCE   5  (bases 1 to 836)
  AUTHORS   Tomomori-Sato C, Sato S, Parmely TJ, Banks CA, Sorokina I, Florens
            L, Zybailov B, Washburn MP, Brower CS, Conaway RC and Conaway JW.
  TITLE     A mammalian mediator subunit that shares properties with
            Saccharomyces cerevisiae mediator subunit Cse2
  JOURNAL   J Biol Chem 279 (7), 5846-5851 (2004)
   PUBMED   14638676
REFERENCE   6  (bases 1 to 836)
  AUTHORS   Sato S, Tomomori-Sato C, Banks CA, Sorokina I, Parmely TJ, Kong SE,
            Jin J, Cai Y, Lane WS, Brower CS, Conaway RC and Conaway JW.
  TITLE     Identification of mammalian Mediator subunits with similarities to
            yeast Mediator subunits Srb5, Srb6, Med11, and Rox3
  JOURNAL   J Biol Chem 278 (17), 15123-15127 (2003)
   PUBMED   12584197
REFERENCE   7  (bases 1 to 836)
  AUTHORS   Mittler G, Kremmer E, Timmers HT and Meisterernst M.
  TITLE     Novel critical role of a human Mediator complex for basal RNA
            polymerase II transcription
  JOURNAL   EMBO Rep 2 (9), 808-813 (2001)
   PUBMED   11559591
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC070377.1, SRR1803616.146311.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000293777.6/ ENSP00000293777.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC091153.10.
            On Nov 22, 2018 this sequence version replaced NM_001001683.3.
            Summary: MED11 is a component of the Mediator complex, which is a
            coactivator for DNA-binding factors that activate transcription via
            RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied
            by OMIM, Oct 2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..836
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..836
                     /gene="MED11"
                     /gene_synonym="HSPC296; NDDRSB"
                     /note="mediator complex subunit 11"
                     /db_xref="GeneID:400569"
                     /db_xref="HGNC:HGNC:32687"
                     /db_xref="MIM:612383"
     CDS             63..416
                     /gene="MED11"
                     /gene_synonym="HSPC296; NDDRSB"
                     /note="isoform a is encoded by transcript variant 1;
                     mediator of RNA polymerase II transcription subunit 11;
                     mediator of RNA polymerase II transcription, subunit 11
                     homolog"
                     /codon_start=1
                     /product="mediator of RNA polymerase II transcription
                     subunit 11 isoform a"
                     /protein_id="NP_001001683.1"
                     /db_xref="CCDS:CCDS32533.1"
                     /db_xref="GeneID:400569"
                     /db_xref="HGNC:HGNC:32687"
                     /db_xref="MIM:612383"
                     /translation="MATYSLANERLRALEDIEREIGAILQNAGTVILELSKEKTNERLL
                     DRQAAAFTASVQHVEAELSAQIRYLTQVATGQPHEGSSYSSRKDCQMALKRVDYARLKL
                     SDVARTCEQMLEN"
     misc_feature    66..68
                     /gene="MED11"
                     /gene_synonym="HSPC296; NDDRSB"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9P086.2); acetylation site"
     regulatory      814..819
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MED11"
                     /gene_synonym="HSPC296; NDDRSB"
                     /note="hexamer: AATAAA"
     polyA_site      836
                     /gene="MED11"
                     /gene_synonym="HSPC296; NDDRSB"
                     /note="major polyA site"
ORIGIN
        1 acttccggaa caagcgtcgc gtttctgagg agaaactctt ggtgagaatt cccagagtga
       61 taatggctac ctacagcctg gcgaacgaga gactacgcgc tctggaagac attgaacggg
      121 aaatcggcgc catccttcag aatgcaggta ctgtgatcct agaattgtcc aaggaaaaaa
      181 ctaacgagcg gctcctagac cggcaggcgg cggccttcac cgcttcagtg caacacgtgg
      241 aggcggagct gtcagctcag atccgctacc tcacccaggt ggccacaggg cagccccatg
      301 agggctccag ctactcttcg aggaaggact gtcagatggc tctgaagcga gtggactatg
      361 cccgcctcaa gctcagtgat gtggctcgaa cctgtgagca gatgctggag aactaggcca
      421 gggagatgga cccagagctg agagggagac catcacctgt gccatgggac agaacctggg
      481 aacatgtagg gtggggagta tgagcaccaa cataccctgc tggtcaaagt accctaggac
      541 aaaggggcaa atggtgggca tggaaaaact gaagcccgag cctgcccaca gctatgcttt
      601 ggcctctcca gcagggtgct cctgctctgc actccagaaa caccctgaca ggctcagaga
      661 ggagatggaa actgacatac ccaacccact tcctcaaaca cttcatgctg ctgccccagc
      721 cttcccgcag acttggccta atgaaaatac atacttcttc attcggagag acaaaacaag
      781 aactagagtt ttaatgataa taaaagcaat aataataaaa gcaataacaa taaaaa
//
LOCUS       NM_001001701            2671 bp    mRNA    linear   PRI 28-SEP-2023
DEFINITION  Homo sapiens chromosome 4 open reading frame 3 (C4orf3), transcript
            variant 2, mRNA.
ACCESSION   NM_001001701
VERSION     NM_001001701.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2671)
  AUTHORS   Anderson DM, Makarewich CA, Anderson KM, Shelton JM, Bezprozvannaya
            S, Bassel-Duby R and Olson EN.
  TITLE     Widespread control of calcium signaling by a family of
            SERCA-inhibiting micropeptides
  JOURNAL   Sci Signal 9 (457), ra119 (2016)
   PUBMED   27923914
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2671)
  AUTHORS   Kalsi G, Kuo PH, Aliev F, Alexander J, McMichael O, Patterson DG,
            Walsh D, Zhao Z, Schuckit M, Nurnberger J Jr, Edenberg H, Kramer J,
            Hesselbrock V, Tischfield JA, Vladimirov V, Prescott CA, Dick DM,
            Kendler KS and Riley BP.
  TITLE     A systematic gene-based screen of chr4q22-q32 identifies association
            of a novel susceptibility gene, DKK2, with the quantitative trait of
            alcohol dependence symptom counts
  JOURNAL   Hum Mol Genet 19 (12), 2497-2506 (2010)
   PUBMED   20332099
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121.
            Hesselbrock, Victor [added]; Tischfield, Jay A [added]]
REFERENCE   3  (bases 1 to 2671)
  AUTHORS   Guo J, Cheng J, Ji D, Zhao LF, Gao XS, Liu Y and Wu SH.
  TITLE     [Screening and cloning target genes transactivated by hepatitis C
            virus F protein using suppression subtractive hybridization
            technique]
  JOURNAL   Zhonghua Gan Zang Bing Za Zhi 13 (9), 660-663 (2005)
   PUBMED   16174453
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.196756.1,
            SRR1803616.260300.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000504110.2/ ENSP00000485697.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA353224.1, BC017399.1, CN361054.1, AK024537.1, AK025703.1 and
            BU739784.1.
            On Nov 22, 2018 this sequence version replaced NM_001001701.3.
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and uses a downstream start codon,
            compared to variant 1. The encoded isoform (2) is shorter at the
            N-terminus, compared to isoform 1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2671
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q26"
     gene            1..2671
                     /gene="C4orf3"
                     /gene_synonym="ALN; HCVFTP1"
                     /note="chromosome 4 open reading frame 3"
                     /db_xref="GeneID:401152"
                     /db_xref="HGNC:HGNC:19225"
                     /db_xref="MIM:620530"
     CDS             111..311
                     /gene="C4orf3"
                     /gene_synonym="ALN; HCVFTP1"
                     /note="isoform 2 is encoded by transcript variant 2; HCV
                     F-transactivated protein 1; hepatitis C virus F
                     protein-transactivated protein 1; uncharacterized protein
                     C4orf3; another-regulin"
                     /codon_start=1
                     /product="uncharacterized protein C4orf3 isoform 2"
                     /protein_id="NP_001001701.2"
                     /db_xref="CCDS:CCDS43266.1"
                     /db_xref="GeneID:401152"
                     /db_xref="HGNC:HGNC:19225"
                     /db_xref="MIM:620530"
                     /translation="MEVDAPGVDGRDGLRERRGFSEGGRQNFDVRPQSGANGLPKHSYW
                     LDLWLFILFDVVVFLFVYFLP"
     misc_feature    111..221
                     /gene="C4orf3"
                     /gene_synonym="ALN; HCVFTP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WVX3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    111..113
                     /gene="C4orf3"
                     /gene_synonym="ALN; HCVFTP1"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8WVX3.2); acetylation site"
     misc_feature    243..305
                     /gene="C4orf3"
                     /gene_synonym="ALN; HCVFTP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WVX3.2);
                     transmembrane region"
     regulatory      581..586
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C4orf3"
                     /gene_synonym="ALN; HCVFTP1"
                     /note="hexamer: TATAAA"
     polyA_site      602
                     /gene="C4orf3"
                     /gene_synonym="ALN; HCVFTP1"
                     /note="major polyA site"
     regulatory      2019..2024
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C4orf3"
                     /gene_synonym="ALN; HCVFTP1"
                     /note="hexamer: AATAAA"
     polyA_site      2038
                     /gene="C4orf3"
                     /gene_synonym="ALN; HCVFTP1"
     polyA_site      2067
                     /gene="C4orf3"
                     /gene_synonym="ALN; HCVFTP1"
     regulatory      2351..2356
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C4orf3"
                     /gene_synonym="ALN; HCVFTP1"
                     /note="hexamer: AATAAA"
     polyA_site      2389
                     /gene="C4orf3"
                     /gene_synonym="ALN; HCVFTP1"
     regulatory      2652..2657
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C4orf3"
                     /gene_synonym="ALN; HCVFTP1"
                     /note="hexamer: AATAAA"
     polyA_site      2671
                     /gene="C4orf3"
                     /gene_synonym="ALN; HCVFTP1"
ORIGIN
        1 gcactgcgca ggcggccgga ctccgctcag tttccggtgc ggcgaacacc aaagtccggg
       61 aacttaagca ttttcggttt ctagggttgt tacgaagctg caggagcgag atggaggtgg
      121 acgcaccggg tgttgatggt cgagatggtc tccgggagcg gcgaggcttt agcgagggag
      181 ggaggcagaa cttcgatgtg aggcctcagt ctggggcaaa tgggcttccc aaacactcct
      241 actggttgga cctctggctt ttcatccttt tcgatgtggt ggtgtttctc tttgtgtatt
      301 ttttgccatg acttgttcgc tgatatctaa attaagaagt tggttcttga gtgaattctg
      361 aaaatggcta caaacttctt gaataaagaa gacaggactc tcaatagaag aatttcacat
      421 ctccaaggga cccttccttt cattttacac tttgttacta atttgcagaa ctctattaat
      481 tgggtaggat ttcacccatt cctagctaag ttcttaaaat taaacccttt ggttcgtgtt
      541 taaaaacttt caaacatctg atggctttac aggggctgaa tataaaagca tttgtactta
      601 aaggtcttgt gtattcatta agaaatatag taatgtcttt taatgtttta agagttgatc
      661 agggtttact atgatgcaag taataggatg attaataagg gaaggttttt atgaattcaa
      721 aagtcaatta ttcaaaagca gggaaagatt ttgagagagg gaacaaagta ttcttagatt
      781 gcgtagaagc tgctaggttc cagttttaat ttttaggttt agttggactc tgttatgaaa
      841 agataggtta tgggtgggcg acaggttgat acagtcttag aaaaagcagg taatatcaaa
      901 gtattggaaa gctagcatgc atgccctctt acctgggtat cttccccctt ttttcctttt
      961 aaactcttga gcctcctata acgaaggatt atgtgtttca aacctatttt ttttttactg
     1021 tttcattaag tgtgcttgtg cccaaaatat ttacttgtat aatatctgta acttgcttaa
     1081 atacttcagc aaagtcagca tatttactca ttcaacaaat atttgagcca ggcattattt
     1141 tagacacagc agtgaacaaa acaaaaaggc attcttgcct tcatggagct tacattctta
     1201 ttgttattta aatctaaatg ttataaaaca agaatttata ttctagggtt gatcagctag
     1261 tatttaatca aaaaggccac actcccatag cagctactct aagctgtagt agctaataaa
     1321 aaatattaat gttggccggg cacagtggct cacgcctata atcccagcac tttgggaggc
     1381 caagggtggt agatcacttg aggtcaagag ttgtgacacc agcctggcca acctggtgaa
     1441 accctatctc tattaaaaaa tacaaaaaaa tacaaaaaaa ttagctgggc atgttggcat
     1501 gcacctgtag tcccagctat ttgggaggct gaggcacgag aattgcttga atccgggagg
     1561 tggaggttgc agtgagccaa gatggggcca ctgcactcta acgtgggcaa cagagaccct
     1621 gtctcaaaaa gaaaatattc ctgttagccc taaaggcttt acatgaggaa tggtagaagt
     1681 ggtcttttgt ttaaattagt tgcattcagc atatatgaat tgtcttaaat attttgggga
     1741 tactcccccg ccttttaaac agggcataag atctggtaaa ctctctgtat atcttcctac
     1801 ctttcaaaat cgttcttagg gttagtcaag tctggaatat aattgctgac tataaagtta
     1861 gcaattatgc ttttaaggtg ttgtcacatc aacctaaaga gaaccatcta tggaaggtat
     1921 ggttgaaaca tctgtaggaa cacagaactg ggatttcact gagtttacca aatcaactgt
     1981 gtgaactgtt tctgcactgc ttgctaatgg tttcatctaa taaatgttta cttatatagc
     2041 tgagtttggt tttattctaa caaattacct ggtggtgtga ttgtgaggtg attaacagtt
     2101 ctcacatagt ttactgttag gtcacacaca gacttccgat cataatccat actgcctttt
     2161 tgagcctaaa atcagcctac taccacaatt accaaatatt ctgaaaattt ctagtatggt
     2221 gaagatggag agatcttggt gtgaaggtta attttatatg tcatcttgat tatgctagga
     2281 gatgcccaga tttctgggtt tgtccatgag ggtgtttcca gaagagatta gcatttgaat
     2341 cagtagactg aataaaaaag agccacccac tccactgcgg gtgggccaac cccttgaggg
     2401 cctagctgga ataaaaaggc agaggaaggg caaattctgt cttctctctg cttgaacagg
     2461 gacatccatg ttctatcctt ggacattggt tctcctgatt ctctggcttt cagacatgga
     2521 ccagggcccc tggttctcag acctttgggt ttggactgga actacaccat tggctttcct
     2581 gggcttactg tctgcggaaa gcagattgtg ggacttctca gcctccataa tcacaagagc
     2641 caatccctca taataaattt atttctatat a
//
LOCUS       NM_001001710            1091 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens ciliary microtubule inner protein 2A (CIMIP2A), mRNA.
ACCESSION   NM_001001710
VERSION     NM_001001710.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1091)
  AUTHORS   Leung MR, Zeng J, Wang X, Roelofs MC, Huang W, Zenezini Chiozzi R,
            Hevler JF, Heck AJR, Dutcher SK, Brown A, Zhang R and
            Zeev-Ben-Mordehai T.
  TITLE     Structural specializations of the sperm tail
  JOURNAL   Cell 186 (13), 2880-2896 (2023)
   PUBMED   37327785
REFERENCE   2  (bases 1 to 1091)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1091)
  AUTHORS   Sigg MA, Menchen T, Lee C, Johnson J, Jungnickel MK, Choksi SP,
            Garcia G 3rd, Busengdal H, Dougherty GW, Pennekamp P, Werner C,
            Rentzsch F, Florman HM, Krogan N, Wallingford JB, Omran H and Reiter
            JF.
  TITLE     Evolutionary Proteomics Uncovers Ancient Associations of Cilia with
            Signaling Pathways
  JOURNAL   Dev Cell 43 (6), 744-762 (2017)
   PUBMED   29257953
REFERENCE   4  (bases 1 to 1091)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY604177.1, BC132918.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968968, SAMEA2142680
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000344774.6/ ENSP00000344729.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY604177.1.
            On Nov 23, 2018 this sequence version replaced NM_001001710.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1091
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..1091
                     /gene="CIMIP2A"
                     /gene_synonym="FAM166A; HSD46"
                     /note="ciliary microtubule inner protein 2A"
                     /db_xref="GeneID:401565"
                     /db_xref="HGNC:HGNC:33818"
     CDS             37..990
                     /gene="CIMIP2A"
                     /gene_synonym="FAM166A; HSD46"
                     /note="protein FAM166A; family with sequence similarity 166
                     member A"
                     /codon_start=1
                     /product="ciliary microtubule inner protein 2A"
                     /protein_id="NP_001001710.1"
                     /db_xref="CCDS:CCDS35186.1"
                     /db_xref="GeneID:401565"
                     /db_xref="HGNC:HGNC:33818"
                     /translation="MTTTQKHDLFTPEPHYVPGYAGFFPQLRYQVGNTYGRTTGQLLTD
                     PSVQKSPCSVLSPMSKPKFIEDFSQSKPPRVPCQDLTEPYIPHYTSLKPSKNFEILGQL
                     PPLEVDAQEPPGVENIPRQILLPAGFTPDTPHPPCPPGRKGDSRDLGHPVYGEEAWKSA
                     TPVCEAPRQHQLYHCQRDEYPPPARRQQETLDVGSFQRLPQLDHPNLIQRKAISGYAGF
                     IPRFTWVMGLNYRDGVMQAMDEFDKSQFLFRNPHCDLGEKLPGTHWPSNHIYSSQGLIP
                     FYMGFIPAMQDNYALTFGNSTRRAYWKEWAKRNHTL"
     misc_feature    427..495
                     /gene="CIMIP2A"
                     /gene_synonym="FAM166A; HSD46"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6J272.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     polyA_site      1091
                     /gene="CIMIP2A"
                     /gene_synonym="FAM166A; HSD46"
                     /note="major polyA site"
ORIGIN
        1 agggactgga gccagcaagg ccagagtgaa agcaaaatga caactactca gaaacacgat
       61 ctcttcacgc cggagcctca ctatgtccct ggctatgccg gcttctttcc gcagctgcgc
      121 taccaggtgg ggaacaccta tgggcgtacc acggggcagc tgctcacaga ccccagtgtg
      181 cagaagagcc cctgctctgt gctgtccccc atgtccaaac ccaagttcat tgaggacttc
      241 agccagtcca agcccccgag ggttccctgc caagacctga cggagcccta catcccccac
      301 tacaccagtc tgaagccctc taagaacttt gagattctgg gccagctccc acccttggag
      361 gtggacgccc aggagccgcc aggggtagag aacataccca gacagattct gctgcctgca
      421 ggcttcacgc ccgacacccc gcaccctccg tgcccaccag gcaggaaggg agactccaga
      481 gacttgggac acccagtata cggggaagag gcctggaaga gcgccactcc tgtttgcgag
      541 gcccccaggc agcaccagct gtaccactgc cagagggatg agtacccacc ccccgcccgc
      601 cgccagcagg agacgctaga tgtgggcagc ttccagcggc tgccgcagct ggaccaccct
      661 aacctaatcc aacgcaaggc catctcaggc tatgctggct tcattccccg tttcacctgg
      721 gtaatggggt tgaattaccg agacggcgtc atgcaagcca tggacgaatt cgacaagagc
      781 cagttcctgt ttagaaaccc ccactgtgac ctgggcgaga agctgcctgg aacacactgg
      841 cccagcaacc acatctacag cagccaaggc ctgatcccct tctacatggg gttcatcccc
      901 gccatgcagg acaactacgc cctgacattc ggcaacagca cccggagggc ctactggaag
      961 gaatgggcaa agcgaaacca cacactatga aaatgcttta atggtggtgt ctgtacagca
     1021 tggatgtgga cagggaaaac agcaagtgca cacagtggga caggccacag gacaggctgg
     1081 gagtgaataa a
//
LOCUS       NM_001001711            2557 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens DNA damage inducible 1 homolog 1 (DDI1), mRNA.
ACCESSION   NM_001001711
VERSION     NM_001001711.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2557)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2557)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2557)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2557)
  AUTHORS   Ramirez J, Lectez B, Osinalde N, Siva M, Elu N, Aloria K,
            Prochazkova M, Perez C, Martinez-Hernandez J, Barrio R, Saskova KG,
            Arizmendi JM and Mayor U.
  TITLE     Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1
            and several proteasomal subunits by Ube3a, accounting for the
            complexity of Angelman syndrome
  JOURNAL   Hum Mol Genet 27 (11), 1955-1971 (2018)
   PUBMED   29788202
  REMARK    GeneRIF: Using human neuroblastoma SH-SY5Y cells in culture, we also
            observed that human DDI1 is ubiquitinated by UBE3A, without being
            targeted for degradation
REFERENCE   5  (bases 1 to 2557)
  AUTHORS   Kottemann MC, Conti BA, Lach FP and Smogorzewska A.
  TITLE     Removal of RTF2 from Stalled Replisomes Promotes Maintenance of
            Genome Integrity
  JOURNAL   Mol Cell 69 (1), 24-35 (2018)
   PUBMED   29290612
REFERENCE   6  (bases 1 to 2557)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam S,
            MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2557)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   8  (bases 1 to 2557)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction Assessment
            with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   9  (bases 1 to 2557)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10  (bases 1 to 2557)
  AUTHORS   Puente XS and Lopez-Otin C.
  TITLE     A genomic analysis of rat proteases and protease inhibitors
  JOURNAL   Genome Res 14 (4), 609-622 (2004)
   PUBMED   15060002
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AK093336.1, BC022017.2 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000302259.5/ ENSP00000302805.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK093336.1, AF429971.1, AP003043.2 and DB513526.1.
            On May 17, 2019 this sequence version replaced NM_001001711.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2557
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.3"
     gene            1..2557
                     /gene="DDI1"
                     /note="DNA damage inducible 1 homolog 1"
                     /db_xref="GeneID:414301"
                     /db_xref="HGNC:HGNC:18961"
     misc_feature    91..93
                     /gene="DDI1"
                     /note="upstream in-frame stop codon"
     CDS             184..1374
                     /gene="DDI1"
                     /note="DNA-damage inducible protein 1; DDI1, DNA-damage
                     inducible 1, homolog 1"
                     /codon_start=1
                     /product="protein DDI1 homolog 1"
                     /protein_id="NP_001001711.1"
                     /db_xref="CCDS:CCDS31660.1"
                     /db_xref="GeneID:414301"
                     /db_xref="HGNC:HGNC:18961"
                     /translation="MLITVYCVRRDLSEVTFSLQVSPDFELRNFKVLCEAESRVPVEEI
                     QIIHMERLLIEDHCSLGSYGLKDGDIVVLLQKDNVGPRAPGRAPNQPRVDFSGIAVPGT
                     SSSRPQHPGQQQQRTPAAQRSQGLASGEKVAGLQGLGSPALIRSMLLSNPHDLSLLKER
                     NPPLAEALLSGSLETFSQVLMEQQREKALREQERLRLYTADPLDREAQAKIEEEIRQQN
                     IEENMNIAIEEAPESFGQVTMLYINCKVNGHPLKAFVDSGAQMTIMSQACAERCNIMRL
                     VDRRWAGVAKGVGTQRIIGRVHLAQIQIEGDFLQCSFSILEDQPMDMLLGLDMLRRHQC
                     SIDLKKNVLVIGTTGTQTYFLPEGELPLCSRMVSGQDESSDKEITHSVMDSGRKEH"
     misc_feature    427..573
                     /gene="DDI1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WTU0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1303..1371
                     /gene="DDI1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WTU0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1458..1463
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDI1"
                     /note="hexamer: ATTAAA"
     polyA_site      1483
                     /gene="DDI1"
                     /note="major polyA site"
     regulatory      2100..2105
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDI1"
                     /note="hexamer: AATAAA"
     polyA_site      2126
                     /gene="DDI1"
     regulatory      2533..2538
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDI1"
                     /note="hexamer: ATTAAA"
     polyA_site      2557
                     /gene="DDI1"
ORIGIN
        1 actgaggctg ggagacagcc cccagacaga tgagtgtccg cgcctctctg agaggtgaat
       61 gagcccggac ggtccctacc taccaagtcc tgaggagcag cggcaccaac gacgcaggcc
      121 cgccccagcc cgccagtgag ccgcccatgc cctctgctag cccggcccgc ccgggccccc
      181 gccatgctga tcaccgtgta ctgcgtgcgg agggacctct ccgaggtcac cttctctctc
      241 caggtcagcc ccgactttga gctccgaaac ttcaaggtcc tctgcgaagc ggagtccaga
      301 gtccccgtcg aagagatcca gatcatccac atggagcgac tcctcatcga ggaccactgt
      361 tccctgggct cctacggcct caaagatggc gatatcgtgg ttttactgca gaaggacaat
      421 gtgggacctc gggctccagg gcgtgccccg aaccagcctc gtgtagactt cagtggcatt
      481 gcggtgcctg ggacgtccag ctcccgtcca cagcaccctg gacagcagca gcagcgcaca
      541 cccgctgccc agcggtcaca gggcttggcg tcaggagaga aggtggccgg cctgcaaggt
      601 ctgggcagcc ccgccctgat ccgcagcatg ctgctctcca acccccacga tctgtccctg
      661 ctcaaggaac gcaaccctcc cttggcggaa gccctgctca gcggaagcct tgagaccttt
      721 tctcaggtgc tgatggagca gcaaagggaa aaggccttga gagagcaaga gaggcttcgt
      781 ctctacacag ccgacccact ggatcgggaa gctcaggcca aaatagaaga ggaaatccgg
      841 cagcaaaaca ttgaagaaaa catgaatata gcgatagaag aggcccccga gagttttgga
      901 caagtgacga tgctctacat taactgcaaa gtgaatgggc atcctttgaa ggcttttgtt
      961 gactcgggcg cccagatgac cattatgagc caggcttgtg ccgagcgatg taacatcatg
     1021 aggctggtgg accgacggtg ggctggggtt gctaaaggag tgggcacaca gagaattatt
     1081 ggccgtgttc atctagctca gattcaaatt gaaggtgatt tcttacagtg ctctttctcc
     1141 atacttgagg atcaacccat ggatatgctt ctaggcctag atatgctccg gagacatcaa
     1201 tgttccatcg atttgaagaa aaatgtgctg gtcatcggca ccactggcac gcagacttat
     1261 tttcttcctg agggagagtt gcccttatgc tctaggatgg taagtgggca agatgagtct
     1321 tcggacaagg aaattacaca ttcagtcatg gattcaggac gaaaagagca ttaaagcacg
     1381 ttataaatat gttaccacct tgagggagcc tcaggtcccc ggcaattata agttaagagc
     1441 ttactggcaa tgtaatcatt aaaaaacatc agtaacaact aaacctggcc ttgggactac
     1501 gttctcagat gggtaactaa cgtcaatcct gattccttgg tcttggtccc tcttccattt
     1561 cccttgtcca gagatcactg aaaggcatcc tgggaaggct ctggaggctc cagctgattt
     1621 ccagataatc catgaaaaag aaaaccagct tcttccttta gagacactat cctatcagat
     1681 tacaggtggc ttatccaaat cattgctatt ttgcagaatt ccctggaaaa atgctatggc
     1741 tgcagacctt acaaggcatc cacataaaac tatttcacat cagcactaat aattctttct
     1801 actgagagaa atatgcccat tttcacaggt tttgttttct ttgggaaggg tattagaaat
     1861 ggtaggtcag ttacactatg atgttaacta atacttatac atgtctgttt ggggcagcat
     1921 aaagaccaat ttcctcatat ttacaccttc ccttcccctg gatcccctgc agtcaccctg
     1981 caatccacag ctaaagacta tttttgccat atttgagaaa gtggatttat ctccaaggat
     2041 gctacattaa ttttctattt ctcctgcatt caaagaaact ctggctataa aacaaaggca
     2101 ataaattaga ttttttaaaa aagaaattat ggtacttctt gggagtcaag ttgtacagtg
     2161 gtgggaatga gaggtgggga caggcagtgg tccaggttct ctaatagtca ttgcaactag
     2221 atcatctctc tctctttttc aaagtaaaaa tctgctttat acattaagct gctgctacat
     2281 cagtattgtt tgaacaaagg ttttcactgt taaaataaca tttgaaaact tttgaatgag
     2341 aagatctcta aggcctcatt cagaattatc cattctgaca atgttagtgt ttattacaac
     2401 tgacagtggg taatggaaga tcctagactt aattacaacc catggctaaa gcacctgaga
     2461 gaaaagtttc agcttcctga ggccatcaga tgcaggggaa atgtttcagg acaataattt
     2521 atcaaaacta gtattaaaac agcggattca aaatcaa
//
LOCUS       NM_001001712            1995 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens lipocalin 10 (LCN10), transcript variant 1, mRNA.
ACCESSION   NM_001001712
VERSION     NM_001001712.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1995)
  AUTHORS   Zhao H, Wang P, Wang X, Du W, Yang HH, Liu Y, Cui SN, Huang W, Peng
            T, Chen J, Gao C, Wang Y, Sadayappan S, Ma C, Fan Y, Wang C and Fan
            GC.
  TITLE     Lipocalin 10 is essential for protection against
            inflammation-triggered vascular leakage by activating LDL
            receptor-related protein 2-slingshot homologue 1 signalling pathway
  JOURNAL   Cardiovasc Res 119 (10), 1981-1996 (2023)
   PUBMED   37392461
  REMARK    GeneRIF: Lipocalin 10 is essential for protection against
            inflammation-triggered vascular leakage by activating LDL
            receptor-related protein 2-slingshot homologue 1 signalling pathway.
REFERENCE   2  (bases 1 to 1995)
  AUTHORS   Li Q, Li Y, Huang W, Wang X, Liu Z, Chen J, Fan Y, Peng T,
            Sadayappan S, Wang Y and Fan GC.
  TITLE     Loss of Lipocalin 10 Exacerbates Diabetes-Induced Cardiomyopathy via
            Disruption of Nr4a1-Mediated Anti-Inflammatory Response in
            Macrophages
  JOURNAL   Front Immunol 13, 930397 (2022)
   PUBMED   35757735
  REMARK    GeneRIF: Loss of Lipocalin 10 Exacerbates Diabetes-Induced
            Cardiomyopathy via Disruption of Nr4a1-Mediated Anti-Inflammatory
            Response in Macrophages. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1995)
  AUTHORS   Wang L, Xie W, Li G, Hu B, Wu W, Zhan L and Zou H.
  TITLE     Lipocalin 10 as a New Prognostic Biomarker in Sepsis-Induced
            Myocardial Dysfunction and Mortality: A Pilot Study
  JOURNAL   Mediators Inflamm 2021, 6616270 (2021)
   PUBMED   34121925
  REMARK    GeneRIF: Lipocalin 10 as a New Prognostic Biomarker in
            Sepsis-Induced Myocardial Dysfunction and Mortality: A Pilot Study.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1995)
  AUTHORS   Suzuki K, Lareyre JJ, Sanchez D, Gutierrez G, Araki Y, Matusik RJ
            and Orgebin-Crist MC.
  TITLE     Molecular evolution of epididymal lipocalin genes localized on mouse
            chromosome 2
  JOURNAL   Gene 339, 49-59 (2004)
   PUBMED   15363845
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC133045.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2158188
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000497771.6/ ENSP00000418491.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355987.31.
            On Jan 11, 2019 this sequence version replaced NM_001001712.2.
            Summary: Members of the lipocalin family, such as LCN10, have a
            common structure consisting of an 8-stranded antiparallel
            beta-barrel that forms a cup-shaped ligand-binding pocket or calyx.
            Lipocalins generally bind small hydrophobic ligands and transport
            them to specific cells (Suzuki et al., 2004 [PubMed
            15363845]).[supplied by OMIM, Aug 2009].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1995
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..1995
                     /gene="LCN10"
                     /note="lipocalin 10"
                     /db_xref="GeneID:414332"
                     /db_xref="HGNC:HGNC:20892"
                     /db_xref="MIM:612904"
     misc_feature    20..22
                     /gene="LCN10"
                     /note="upstream in-frame stop codon"
     CDS             38..640
                     /gene="LCN10"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; epididymal-specific lipocalin-10"
                     /codon_start=1
                     /product="epididymal-specific lipocalin-10 isoform 1
                     precursor"
                     /protein_id="NP_001001712.2"
                     /db_xref="CCDS:CCDS35182.2"
                     /db_xref="GeneID:414332"
                     /db_xref="HGNC:HGNC:20892"
                     /db_xref="MIM:612904"
                     /translation="MRQGLLVLALVLVLVLVLAAGSQVQEWYPRESHALNWNKFSGFWY
                     ILATATDAQGFLPARDKRKLGASVVKVNKVGQLRVLLAFRRLKGCQSQEVILRKDGKKP
                     VFGNACAYAAGPREGQEGVKGVKAFHVLSTDYSYGLVYLRLGRATQNYKNLLLFHRQNV
                     SSFQSLKEFMDACDILGLSKAAVILPKDASRTHTILP"
     sig_peptide     38..94
                     /gene="LCN10"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      1970..1975
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LCN10"
                     /note="hexamer: AATAAA"
     polyA_site      1995
                     /gene="LCN10"
                     /note="major polyA site"
ORIGIN
        1 aaacactggc cttggcggct gagggaggag ggtgaagatg aggcaggggc tgctggtgct
       61 ggcgctggtg ctggtgctgg tgctagtgct ggctgcaggg tcccaggtgc aggagtggta
      121 ccccagggag tcccacgccc tcaactggaa caagttttca gggttctggt acattctggc
      181 cactgccact gatgcccagg gattcttgcc ggccagggac aagaggaagc tgggggcgtc
      241 cgtggtaaag gtgaacaaag tgggccagct ccgcgtgctc ctcgccttca gacggttgaa
      301 ggggtgccag tcccaggagg tgatcctgag gaaagacggg aagaagccgg tgtttgggaa
      361 cgcctgtgca tacgcggcgg gcccgaggga aggacaggag ggagtgaaag gggtgaaggc
      421 cttccacgtg ctgtccactg actacagcta cggcttggtc tacctccgcc tggggcgtgc
      481 aacccaaaac tacaagaacc tgctgctctt ccataggcag aatgtttcga gcttccagag
      541 tctgaaggaa ttcatggacg cttgtgacat tctggggctc tccaaggccg ccgtcatcct
      601 cccgaaagac gcgtcccgta cacacaccat cctgccatga gagccagcgt cctctgctct
      661 tccctttcga cgcgtggtcc tcccagaccc gaggagcgtt gttccagatg tcaagtggag
      721 accacggctt gttgagaggt gtttggtgac tctaggtcat tgacagtgtg aaaatcaagt
      781 ggctcaaggg atcctttatg atcacagaaa gatgggggaa ggaggataca ggctgaccgg
      841 gtggcgagat gtcagccagg ccccttcccc actgtcttct ggagcacact gcaggctgct
      901 gctattccct gtctgctgtg aaacagacca caggccggcc caacgcagtc ctcgccgtgt
      961 gccttgcctc tgccctccac gccgccgcca ccctccgcgt tcctttacat cctgcacttt
     1021 ctcaggaagc cgttcgcata tccacccaac atggaggagc ccccatgacg tgccaggcag
     1081 cgtgctggcc cctgcggctg cgttagggaa cagaatcggc aaacgcagtc ccagagttga
     1141 tgcctgatca ggagaagcca acttcagcag tgtggtcacc tggatactcg agtatagacc
     1201 ctagatcacc tggatactcg agtatagacc ctagaagtgt atctaggcgc ggccagggcc
     1261 ccacaacagc aggtctgact cattccatcc agggcagcat cagggagagc ttcctggggg
     1321 aagtggcatt tgggctgacc tgggaagggt ggtgggtgtt aagtcagttt gggtggggct
     1381 ggaggagcag gggtgcatcc ccagaacagg atgtgacttc tgaaaagaca tcagagtaga
     1441 gaaaatggtt tctcaaggag attggggacg ccagtatcag aatggcggcg gggagagcca
     1501 cagaggagca ggagggggcc caccagacca cggcacctcg aaggctgcgg tgaaggctta
     1561 ggtctcactc aaggggtgat gacgggaggt tgtctgagat gaacccccca actgaatgaa
     1621 tggaccttct tctggccaag gggatcccaa agaaaccctg aacccgagtc ctcagccatg
     1681 acggggtaag gggtcagccc ctccttctgg cccgagaaga gatcagagat tggttctggg
     1741 cagtccatgg agaatttgct cagctggacc agtacacgct tctcctttca tgaatattca
     1801 tgactcctcc tgaagcttat tgaacatctc tatttggcca tctccttcag cgtaaattcc
     1861 tgtcccctct gtccctcccc tccaagtgtc tgttccaggc ttctggcctg aggctacgct
     1921 tcctagcctg tcagaagggc tgccctgctg gctgcaatct cttatgagaa ataaagctct
     1981 cctgtgtgca aaaaa
//
LOCUS       NM_001001722            1961 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens chromodomain Y-linked 2B (CDY2B), mRNA.
ACCESSION   NM_001001722
VERSION     NM_001001722.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1961)
  AUTHORS   Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
            Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A,
            Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R,
            Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R,
            McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S,
            Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP,
            Waterston RH, Wilson RK, Rozen S and Page DC.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
REFERENCE   2  (bases 1 to 1961)
  AUTHORS   Lahn BT, Tang ZL, Zhou J, Barndt RJ, Parvinen M, Allis CD and Page
            DC.
  TITLE     Previously uncharacterized histone acetyltransferases implicated in
            mammalian spermatogenesis
  JOURNAL   Proc Natl Acad Sci U S A 99 (13), 8707-8712 (2002)
   PUBMED   12072557
REFERENCE   3  (bases 1 to 1961)
  AUTHORS   Rottger S, Yen PH and Schempp W.
  TITLE     A fiber-FISH contig spanning the non-recombining region of the human
            Y chromosome
  JOURNAL   Chromosome Res 10 (8), 621-635 (2002)
   PUBMED   12575791
REFERENCE   4  (bases 1 to 1961)
  AUTHORS   Wimmer R, Kuhl H, Rottger S and Schempp W.
  TITLE     Comparative mapping of CDY and DAZ in higher primates
  JOURNAL   Cytogenet Genome Res 96 (1-4), 287-289 (2002)
   PUBMED   12438810
REFERENCE   5  (bases 1 to 1961)
  AUTHORS   Jones DO, Cowell IG and Singh PB.
  TITLE     Mammalian chromodomain proteins: their role in genome organisation
            and expression
  JOURNAL   Bioessays 22 (2), 124-137 (2000)
   PUBMED   10655032
  REMARK    Review article
REFERENCE   6  (bases 1 to 1961)
  AUTHORS   Lahn BT and Page DC.
  TITLE     Retroposition of autosomal mRNA yielded testis-specific gene family
            on human Y chromosome
  JOURNAL   Nat Genet 21 (4), 429-433 (1999)
   PUBMED   10192397
  REMARK    Erratum:[Nat Genet 1999 Jun;22(2):209]
REFERENCE   7  (bases 1 to 1961)
  AUTHORS   Yen PH.
  TITLE     A long-range restriction map of deletion interval 6 of the human Y
            chromosome: a region frequently deleted in azoospermic males
  JOURNAL   Genomics 54 (1), 5-12 (1998)
   PUBMED   9806824
REFERENCE   8  (bases 1 to 1961)
  AUTHORS   Lahn BT and Page DC.
  TITLE     Functional coherence of the human Y chromosome
  JOURNAL   Science 278 (5338), 675-680 (1997)
   PUBMED   9381176
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC069087.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000382867.4/ ENSP00000372319.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009976.4 and BC069087.1.
            On Aug 13, 2020 this sequence version replaced NM_001001722.1.
            Summary: This intronless gene encodes a protein containing a
            chromodomain and a histone acetyltransferase catalytic domain.
            Chromodomain proteins are components of heterochromatin-like
            complexes and can act as gene repressors. This protein is localized
            to the nucleus of late spermatids where histone hyperacetylation
            takes place. Histone hyperacetylation is thought to facilitate the
            transition in which protamines replace histones as the major
            DNA-packaging protein. Two nearly identical copies of this gene are
            found in a palindromic region on chromosome Y; this record
            represents the centromeric copy. Chromosome Y also contains a pair
            of closely related genes in another more telomeric palindrome as
            well as several related pseudogenes. [provided by RefSeq, Jul
            2008].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1961
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.222"
     gene            1..1961
                     /gene="CDY2B"
                     /gene_synonym="CDY"
                     /note="chromodomain Y-linked 2B"
                     /db_xref="GeneID:203611"
                     /db_xref="HGNC:HGNC:23921"
     misc_feature    80..82
                     /gene="CDY2B"
                     /gene_synonym="CDY"
                     /note="upstream in-frame stop codon"
     CDS             329..1954
                     /gene="CDY2B"
                     /gene_synonym="CDY"
                     /EC_number="2.3.1.48"
                     /note="chromodomain protein, Y chromosome, 2 related;
                     testis-specific chromodomain protein Y protein 2 related; Y
                     chromosome chromodomain protein 2B; chromodomain protein,
                     Y-linked, 2B"
                     /codon_start=1
                     /product="testis-specific chromodomain protein Y 2"
                     /protein_id="NP_001001722.1"
                     /db_xref="CCDS:CCDS35473.1"
                     /db_xref="GeneID:203611"
                     /db_xref="HGNC:HGNC:23921"
                     /translation="MASQEFEVEAIVDKRQDKNGNTQYLVRWKGYDKQDDTWEPEQHLM
                     NCEKCVHDFNRRQTEKQKKLTWTTTSRIFSNNARRRTSRSTKANYSKNSPKTPVTDKHH
                     RSKNCKLFAASKNVRRKAASTLSDTKNMEIINSTIETLAPDSPFDHKKTVSGFQKLEKL
                     DPIAADQQDTVVFKVTEGKLLRDPLSHPGAEQTGIQNKTQMHPLMSQMSGSVTASMATG
                     SATRKGIVVLIDPLAANGTTDMHTSVPRVKGGQRNITDDSRGQPFIKKMHFTIRLTESA
                     ITYRDIVVKKEDGFTQIVLSTRSTEKNALNTEVIKEMVNALNSAAADDSKLVLFSAAGS
                     VFCCGLDFGYFVRHLRNDRNTASLEMVDTIKNFVNTFIQFKKPIVVSVNGPAIGLGASI
                     LPLCDLVWANEKAWFQTPYTTFGQSPDGCSSITFPKMMGKASANEMLIAGRKLTAREAC
                     AKGLVSQVFLTGTFTQEVMIQIKELASYNAIVLEECKALVRCNIKLELEQANERECEVL
                     RKIWSSAQGIESMLKYVENKIDEF"
     misc_feature    542..640
                     /gene="CDY2B"
                     /gene_synonym="CDY"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6F7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 gtaacaggca ggaagaaagc tttctgtact acaccagagg gttggggctg tggatttagc
       61 tactctcacc tgaggctact gagcaagctg tcatgcacca cgagacaaag cccaagctgt
      121 cccaccaggc agtaagtgtg gagaggttca ggcacatggc atagctgcta tttcgcacaa
      181 ttttcactac accagtggtg accaaataga agaggttcat ccatacacag aacctggtga
      241 agagctggag gcagaaagaa gtgtctatgt ggagacgcaa ctgaaacaaa ggtggcacag
      301 caactgttcc aatcccgtgt ctttcctcat ggcttcccag gagtttgagg ttgaagctat
      361 tgttgacaaa agacaggata aaaatgggaa tacacagtat ttggttcggt ggaaaggtta
      421 tgacaaacag gatgacactt gggaaccaga gcagcacctc atgaactgtg aaaaatgtgt
      481 acatgatttt aatagacgac agactgaaaa acagaaaaaa ctgacatgga ctacaaccag
      541 tagaattttt tcaaacaatg ccagaagaag aacttccaga tctacaaaag caaactattc
      601 taagaactct cctaaaactc cagtgactga taaacaccac aggtccaaaa actgcaagtt
      661 atttgctgcc agcaagaacg ttaggagaaa ggcagcttca actctctccg acacaaagaa
      721 tatggagata ataaattcaa ctattgagac ccttgcacct gacagcccct ttgaccacaa
      781 gaaaactgtg agtggctttc agaaacttga gaaactggac cctattgcag cagatcagca
      841 ggacacggtg gtcttcaagg tgacagaagg gaaactcctc cgggaccctt tgtcacatcc
      901 tggtgcagaa cagactggaa tacagaacaa gactcagatg cacccactaa tgtcgcagat
      961 gtctggctca gttactgctt ctatggccac aggttcagct acccgaaagg gtatagtggt
     1021 attaatagac ccattagcag ccaatgggac aacagacatg catacctcag ttccaagagt
     1081 gaaaggtggg caaagaaata ttactgatga cagcagaggc cagcctttta tcaagaagat
     1141 gcacttcacc ataaggctaa cagaaagtgc catcacatac agagacattg tagtgaagaa
     1201 agaggatgga ttcacccaga tagtgctatc aactagatcg acagaaaaaa atgcactgaa
     1261 tacagaagta attaaagaaa tggttaatgc tctgaatagc gctgctgcag atgacagcaa
     1321 gctcgtgctg ttcagtgcag ctggaagtgt cttttgctgc ggtcttgatt ttgggtactt
     1381 tgtgaggcac ttaaggaatg acagaaacac agcaagcctt gaaatggtgg acaccatcaa
     1441 gaactttgtg aatactttta ttcaatttaa aaagcctatt gttgtatcag tcaatggccc
     1501 tgccattgga ctaggtgcat ccatcctgcc tctttgtgat ctcgtgtggg ctaatgaaaa
     1561 ggcttggttc caaacccctt atacgacctt tggacagagt ccagatggct gttcttctat
     1621 tacattcccc aaaatgatgg gtaaagcatc tgccaatgaa atgttaattg ctgggcgaaa
     1681 gctgacagca cgggaggcat gcgccaaagg cctggtctct caggtatttt tgactggaac
     1741 tttcacccaa gaggttatga ttcaaattaa ggagcttgcc tcatacaatg caattgtact
     1801 ggaagaatgt aaggccctcg ttcgctgtaa tattaagttg gagttggaac aggccaatga
     1861 gagagagtgt gaggtgctga ggaagatctg gagctcagcc caagggatag aatccatgtt
     1921 aaagtatgtt gaaaataaaa ttgatgagtt ttaattgtca g
//
LOCUS       NM_001001786             876 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens BH3-like motif containing, cell death inducer (BLID),
            mRNA.
ACCESSION   NM_001001786
VERSION     NM_001001786.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 876)
  AUTHORS   Liu X, Lu Y, Xu Y, Hou S, Huang J, Wang B, Zhao J, Xia S, Fan S, Yu
            X, Du Y, Hou L, Li Z, Ding Z, An S, Huang B, Li L, Tang J, Ju J,
            Guan H and Song B.
  TITLE     Exosomal transfer of miR-501 confers doxorubicin resistance and
            tumorigenesis via targeting of BLID in gastric cancer
  JOURNAL   Cancer Lett 459, 122-134 (2019)
   PUBMED   31173853
  REMARK    GeneRIF: MiR-501 knockdown or BH3-like motif-containing protein,
            cell death inducer (BLID) overexpression could reverse the effects
            of ADR Exo on recipient cells. Erratum:[Cancer Lett. 2022 Jul
            28;539:215695. PMID: 35501203]
REFERENCE   2  (bases 1 to 876)
  AUTHORS   Li X, Su P, Liu X, Kong X, Zhang X, Zhang H and Yang Q.
  TITLE     Aberrant BLID expression is associated with breast cancer
            progression
  JOURNAL   Tumour Biol 35 (6), 5449-5452 (2014)
   PUBMED   24532431
  REMARK    GeneRIF: loss of BLID may contribute to the progression of
            intraductal proliferation lesions to breast cancer.
REFERENCE   3  (bases 1 to 876)
  AUTHORS   Yu X and Li Z.
  TITLE     BLID: A Novel Tumor-Suppressor Gene
  JOURNAL   Oncol Res 22 (5-6), 333-338 (2014)
   PUBMED   26629946
  REMARK    Review article
REFERENCE   4  (bases 1 to 876)
  AUTHORS   Li X, Kong X, Wang Y and Yang Q.
  TITLE     BRCC2 inhibits breast cancer cell growth and metastasis in vitro and
            in vivo via downregulating AKT pathway
  JOURNAL   Cell Death Dis 4 (8), e757 (2013)
   PUBMED   23928696
  REMARK    GeneRIF: BRCC2 functions as a novel tumor suppressor in breast
            cancer and may be a potential therapeutic target for breast cancer
            management. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 876)
  AUTHORS   Cavalli LR, Noone AM, Makambi KH, Rone JD, Kasid UN and Haddad BR.
  TITLE     Frequent loss of the BLID gene in early-onset breast cancer
  JOURNAL   Cytogenet Genome Res 135 (1), 19-24 (2011)
   PUBMED   21846966
  REMARK    GeneRIF: Frequent loss of the BLID gene is observed in early-onset
            breast cancer.
REFERENCE   6  (bases 1 to 876)
  AUTHORS   Tassano E, Acquila M, Tavella E, Micalizzi C, Panarello C and
            Morerio C.
  TITLE     MicroRNA-125b-1 and BLID upregulation resulting from a novel IGH
            translocation in childhood B-Cell precursor acute lymphoblastic
            leukemia
  JOURNAL   Genes Chromosomes Cancer 49 (8), 682-687 (2010)
   PUBMED   20544842
  REMARK    GeneRIF: BLID upregulation resulting from a novel IGH translocation
            is associated with childhood B-Cell precursor acute lymphoblastic
            leukemia.
REFERENCE   7  (bases 1 to 876)
  AUTHORS   Broustas CG, Ross JS, Yang Q, Sheehan CE, Riggins R, Noone AM,
            Haddad BR, Seillier-Moiseiwitsch F, Kallakury BV, Haffty BG, Clarke
            R and Kasid UN.
  TITLE     The proapoptotic molecule BLID interacts with Bcl-XL and its
            downregulation in breast cancer correlates with poor disease-free
            and overall survival
  JOURNAL   Clin Cancer Res 16 (11), 2939-2948 (2010)
   PUBMED   20400521
  REMARK    GeneRIF: BLID is a new binding partner of Bcl-X(L) and a significant
            prognostic factor in breast cancer
REFERENCE   8  (bases 1 to 876)
  AUTHORS   Nakanishi H, Yamada R, Gotoh N, Hayashi H, Yamashiro K, Shimada N,
            Ohno-Matsui K, Mochizuki M, Saito M, Iida T, Matsuo K, Tajima K,
            Yoshimura N and Matsuda F.
  TITLE     A genome-wide association analysis identified a novel susceptible
            locus for pathological myopia at 11q24.1
  JOURNAL   PLoS Genet 5 (9), e1000660 (2009)
   PUBMED   19779542
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   9  (bases 1 to 876)
  AUTHORS   Cavalli,L.R., Santos,S.C., Broustas,C.G., Rone,J.D., Kasid,U.N. and
            Haddad,B.R.
  TITLE     Assignment of the BLID gene to 11q24.1 by fluorescence in situ
            hybridization
  JOURNAL   Cancer Genet Cytogenet 186 (2), 120-121 (2008)
   PUBMED   18940476
  REMARK    GeneRIF: BLID gene is assigned to 11p24.1.
REFERENCE   10  (bases 1 to 876)
  AUTHORS   Broustas CG, Gokhale PC, Rahman A, Dritschilo A, Ahmad I and Kasid
            U.
  TITLE     BRCC2, a novel BH3-like domain-containing protein, induces apoptosis
            in a caspase-dependent manner
  JOURNAL   J Biol Chem 279 (25), 26780-26788 (2004)
   PUBMED   15069058
  REMARK    GeneRIF: BRCC2 is a novel BH3-like domain-containing protein which
            induces apoptosis in a caspase-dependent manner
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AF303179.1, BC130361.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 15069058
            MANE Ensembl match :: ENST00000560104.2/ ENSP00000453153.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF303179.1, BC130363.1 and
            AP001924.5.
            On May 17, 2019 this sequence version replaced NM_001001786.2.
            Summary: This gene encodes a BH3-like motif containing protein
            involved in cell death. The encoded protein may induce apoptosis in
            a caspase-dependent manner. The protein is localized in both the
            cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..876
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.1"
     gene            1..876
                     /gene="BLID"
                     /gene_synonym="BRCC2"
                     /note="BH3-like motif containing, cell death inducer"
                     /db_xref="GeneID:414899"
                     /db_xref="HGNC:HGNC:33495"
                     /db_xref="MIM:608853"
     misc_feature    282..284
                     /gene="BLID"
                     /gene_synonym="BRCC2"
                     /note="upstream in-frame stop codon"
     CDS             294..620
                     /gene="BLID"
                     /gene_synonym="BRCC2"
                     /note="breast cancer cell 2; breast cancer cell protein 2"
                     /codon_start=1
                     /product="BH3-like motif-containing cell death inducer"
                     /protein_id="NP_001001786.2"
                     /db_xref="CCDS:CCDS31693.1"
                     /db_xref="GeneID:414899"
                     /db_xref="HGNC:HGNC:33495"
                     /db_xref="MIM:608853"
                     /translation="MVTLLPIEGQEIHFFEILESECVLYTGWIERASGSSIYPEAKARL
                     PLEALLGSNKEPMLPKETVLSLKRYNLGSSAMKRNVPGHVLQRPSYLTRIQVTLLCNSS
                     AEAL"
     misc_feature    306..329
                     /gene="BLID"
                     /gene_synonym="BRCC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZY5.2);
                     Region: BH3-like"
     regulatory      793..798
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLID"
                     /gene_synonym="BRCC2"
                     /note="hexamer: AATAAA"
     polyA_site      812
                     /gene="BLID"
                     /gene_synonym="BRCC2"
                     /note="major polyA site"
ORIGIN
        1 atgatgttgt gtttggagaa aagagagaag agaattgaat aagtacatga ccccttggaa
       61 gctgttttca gttgaggatt ttggtgagta gccacttgaa atcaagggaa attccatgaa
      121 tagcaggagc tgggaagaaa ggaagaggag gaaggatccc accacttttt tcttcccatc
      181 taacaccgtg cttatgcaaa gcatagtcca tatgagatct gccttataaa aacttgctga
      241 ataaagcgaa tggaagttaa attttggact ttcttccata atagcttcaa attatggtga
      301 ctttgttgcc tatagagggc caggaaatac atttctttga gatcctagaa tctgagtgtg
      361 tgctctacac aggatggata gagcgagcct ctggcagttc catttatcca gaggcaaaag
      421 cacgcctgcc actggaggcg ctcttgggtt ccaacaaaga acctatgttg cctaaggaaa
      481 cagtgctttc tcttaaaagg tacaatcttg gctcctctgc catgaagcgg aatgttcctg
      541 gacatgtgct tcagagacct tcctatttaa ccaggataca agttacattg ttatgcaatt
      601 cctctgctga ggccctgtaa aaggagtgag ttaggacaga tgcagcaaga tattaggaca
      661 gatttcgccc attattcagg ctgcacaaca cagaaggaaa cttgatttca ataagaccca
      721 attcttaaca gtcttttcta cccactttta cccataactt ttccaaattt ggttcaaatt
      781 gtgcagagaa acaataaaat ttttaaaaag gataaactgg ctagttaaaa gtaaatggca
      841 tttaattaaa acaaatcttg caaattcatg aaaaaa
//
LOCUS       NM_001001788            1150 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens retinoic acid early transcript 1G (RAET1G), transcript
            variant 1, mRNA.
ACCESSION   NM_001001788
VERSION     NM_001001788.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1150)
  AUTHORS   Lanier LL.
  TITLE     NKG2D Receptor and Its Ligands in Host Defense
  JOURNAL   Cancer Immunol Res 3 (6), 575-582 (2015)
   PUBMED   26041808
  REMARK    Review article
REFERENCE   2  (bases 1 to 1150)
  AUTHORS   Fujita H, Hatanaka Y, Sutoh Y, Suzuki Y, Oba K, Hatanaka KC,
            Mitsuhashi T, Otsuka N, Fugo K, Kasahara M and Matsuno Y.
  TITLE     Immunohistochemical validation and expression profiling of NKG2D
            ligands in a wide spectrum of human epithelial neoplasms
  JOURNAL   J Histochem Cytochem 63 (3), 217-227 (2015)
   PUBMED   25473094
REFERENCE   3  (bases 1 to 1150)
  AUTHORS   Cho H, Chung JY, Kim S, Braunschweig T, Kang TH, Kim J, Chung EJ,
            Hewitt SM and Kim JH.
  TITLE     MICA/B and ULBP1 NKG2D ligands are independent predictors of good
            prognosis in cervical cancer
  JOURNAL   BMC Cancer 14, 957 (2014)
   PUBMED   25510288
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1150)
  AUTHORS   Wennerberg E, Pfefferle A, Ekblad L, Yoshimoto Y, Kremer V,
            Kaminskyy VO, Juhlin CC, Hoog A, Bodin I, Svjatoha V, Larsson C,
            Zedenius J, Wennerberg J and Lundqvist A.
  TITLE     Human anaplastic thyroid carcinoma cells are sensitive to NK
            cell-mediated lysis via ULBP2/5/6 and chemoattract NK cells
  JOURNAL   Clin Cancer Res 20 (22), 5733-5744 (2014)
   PUBMED   25212604
  REMARK    GeneRIF: Human anaplastic thyroid carcinoma cells are sensitive to
            NK cell-mediated lysis via ULBP2/5/6 and chemoattract NK cells.
REFERENCE   5  (bases 1 to 1150)
  AUTHORS   Raulet DH, Gasser S, Gowen BG, Deng W and Jung H.
  TITLE     Regulation of ligands for the NKG2D activating receptor
  JOURNAL   Annu Rev Immunol 31, 413-441 (2013)
   PUBMED   23298206
  REMARK    Review article
REFERENCE   6  (bases 1 to 1150)
  AUTHORS   Rareongjai S, Romphruk A, Romphruk AV, Sakuntabhai A and Leelayuwat
            C.
  TITLE     Linkage disequilibrium of polymorphic RAET1 genes in Thais
  JOURNAL   Tissue Antigens 76 (3), 230-235 (2010)
   PUBMED   20522206
REFERENCE   7  (bases 1 to 1150)
  AUTHORS   Cao W, Xi X, Wang Z, Dong L, Hao Z, Cui L, Ma C and He W.
  TITLE     Four novel ULBP splice variants are ligands for human NKG2D
  JOURNAL   Int Immunol 20 (8), 981-991 (2008)
   PUBMED   18544572
REFERENCE   8  (bases 1 to 1150)
  AUTHORS   Ebihara T, Masuda H, Akazawa T, Shingai M, Kikuta H, Ariga T,
            Matsumoto M and Seya T.
  TITLE     Induction of NKG2D ligands on human dendritic cells by TLR ligand
            stimulation and RNA virus infection
  JOURNAL   Int Immunol 19 (10), 1145-1155 (2007)
   PUBMED   17878262
REFERENCE   9  (bases 1 to 1150)
  AUTHORS   Bacon L, Eagle RA, Meyer M, Easom N, Young NT and Trowsdale J.
  TITLE     Two human ULBP/RAET1 molecules with transmembrane regions are
            ligands for NKG2D
  JOURNAL   J Immunol 173 (2), 1078-1084 (2004)
   PUBMED   15240696
  REMARK    GeneRIF: Binds the activating receptor NKG2D and the the human
            cytomegalovirus protein UL16.
REFERENCE   10  (bases 1 to 1150)
  AUTHORS   Radosavljevic M, Cuillerier B, Wilson MJ, Clement O, Wicker S,
            Gilfillan S, Beck S, Trowsdale J and Bahram S.
  TITLE     A cluster of ten novel MHC class I related genes on human chromosome
            6q24.2-q25.3
  JOURNAL   Genomics 79 (1), 114-123 (2002)
   PUBMED   11827464
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY172579.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144335
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367360.7/ ENSP00000356329.2
            RefSeq Select criteria      :: based on expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY165961.1, AY172579.1 and
            AY172580.1.
            On Nov 23, 2018 this sequence version replaced NM_001001788.3.
            Summary: This gene encodes a member of the major histocompatibility
            complex (MHC) class I family of proteins. Although the encoded
            protein includes C-terminal transmembrane and cytoplasmic domains,
            proteolytic processing results in the removal of these domains and
            subsequent tethering to the plasma membrane by a
            glycosylphosphatidylinositol (GPI)-anchor. The encoded protein is
            one of several related ligands of the natural killer group 2,
            member D (NKG2D) receptor, which functions as an activating
            receptor in innate and adaptive immunity. This gene is present in a
            gene cluster on chromosome 6. [provided by RefSeq, Jul 2015].
            Transcript Variant: This variant (1, also known as RAET1G1)
            represents the longer transcript and encodes the protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1150
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1"
     gene            1..1150
                     /gene="RAET1G"
                     /gene_synonym="ULBP5"
                     /note="retinoic acid early transcript 1G"
                     /db_xref="GeneID:353091"
                     /db_xref="HGNC:HGNC:16795"
                     /db_xref="MIM:609244"
     misc_feature    10..12
                     /gene="RAET1G"
                     /gene_synonym="ULBP5"
                     /note="upstream in-frame stop codon"
     CDS             112..1116
                     /gene="RAET1G"
                     /gene_synonym="ULBP5"
                     /note="UL-16 binding protein 5; retinoic acid early
                     transcript 1G protein"
                     /codon_start=1
                     /product="UL-16 binding protein 5 preproprotein"
                     /protein_id="NP_001001788.2"
                     /db_xref="CCDS:CCDS43514.1"
                     /db_xref="GeneID:353091"
                     /db_xref="HGNC:HGNC:16795"
                     /db_xref="MIM:609244"
                     /translation="MAAAASPAFLLRLPLLLLLSSWCRTGLADPHSLCYDITVIPKFRP
                     GPRWCAVQGQVDEKTFLHYDCGSKTVTPVSPLGKKLNVTTAWKAQNPVLREVVDILTEQ
                     LLDIQLENYIPKEPLTLQARMSCEQKAEGHGSGSWQLSFDGQIFLLFDSENRMWTTVHP
                     GARKMKEKWENDKDMTMSFHYISMGDCTGWLEDFLMGMDSTLEPSAGAPPTMSSGTAQP
                     RATATTLILCCLLIMCLLICSRHSLTQSHGHHPQSLQPPPHPPLLHPTWLLRRVLWSDS
                     YQIAKRPLSGGHVTRVTLPIIGDDSHSLPCPLALYTINNGAARYSEPLQVSIS"
     sig_peptide     112..195
                     /gene="RAET1G"
                     /gene_synonym="ULBP5"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     187..765
                     /gene="RAET1G"
                     /gene_synonym="ULBP5"
                     /product="UL-16 binding protein 5. /id=PRO_0000019022"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6H3X3.1)"
     misc_feature    196..462
                     /gene="RAET1G"
                     /gene_synonym="ULBP5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6H3X3.1);
                     Region: MHC class I alpha-1 like"
     misc_feature    355..357
                     /gene="RAET1G"
                     /gene_synonym="ULBP5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (Q6H3X3.1); glycosylation site"
     misc_feature    463..741
                     /gene="RAET1G"
                     /gene_synonym="ULBP5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6H3X3.1);
                     Region: MHC class I alpha-2 like"
     misc_feature    781..840
                     /gene="RAET1G"
                     /gene_synonym="ULBP5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6H3X3.1);
                     transmembrane region"
     polyA_site      1150
                     /gene="RAET1G"
                     /gene_synonym="ULBP5"
                     /note="major polyA site"
ORIGIN
        1 actggagttt agggctgcat tcagacgggc tgcattcaga cagcctgcga gccgccaggt
       61 gatccacggg ctgggcttcg cttctgctgt cccctgcgat ccaactcccc aatggcagcg
      121 gccgccagcc ccgcgttcct tctacgcctc ccgcttctgc tcctgctgtc cagctggtgc
      181 aggaccgggc tggccgaccc tcactctctt tgctatgaca tcaccgtcat ccctaagttc
      241 agacctggac cacggtggtg tgcggttcaa ggccaggtgg atgaaaagac ttttcttcac
      301 tatgactgtg gcagcaagac agtcacaccc gtcagtcccc tggggaagaa actaaatgtc
      361 acaacggcct ggaaagcaca gaacccagta ctgagagagg tggtggacat acttacagag
      421 caactgcttg acattcagct ggagaattac atacccaagg aacccctcac cctgcaggcc
      481 aggatgtctt gtgagcagaa agccgaagga cacggcagtg gatcttggca gctcagtttc
      541 gatggacaga tcttcctcct ctttgactca gaaaacagaa tgtggacaac ggttcatcct
      601 ggagccagaa agatgaaaga aaagtgggag aatgacaagg atatgaccat gtccttccat
      661 tacatctcaa tgggagactg cacaggatgg cttgaggact tcttgatggg catggacagc
      721 accctggagc caagtgcagg agcaccaccc accatgtcct caggcacagc ccaacccagg
      781 gccacggcca ccaccctcat cctttgctgc ctcctcatca tgtgtctcct catatgctcc
      841 aggcacagtc tgacccaaag ccatggccac caccctcagt ccctgcagcc tcctcctcat
      901 cctcccctgc ttcatcctac ctggctgctg aggagagtcc tttggagtga cagctaccaa
      961 atagcgaagc gccccttgtc tggtggacac gtgactcgcg tgactttacc tatcattgga
     1021 gacgactcac actccttacc ctgccctctt gccttgtata caataaataa cggcgcagcc
     1081 aggtattcgg agccactaca ggtctccata tcttgatggt tccctgggcc cagctgtctt
     1141 ttcttccgtc
//
LOCUS       NM_001001790             706 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens translocase of outer mitochondrial membrane 5 (TOMM5),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001001790
VERSION     NM_001001790.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 706)
  AUTHORS   Kato H and Mihara K.
  TITLE     Identification of Tom5 and Tom6 in the preprotein translocase
            complex of human mitochondrial outer membrane
  JOURNAL   Biochem Biophys Res Commun 369 (3), 958-963 (2008)
   PUBMED   18331822
  REMARK    GeneRIF: The human counterparts of Tom5 and Tom6, together with the
            other components including Tom7, were identified in the preprotein
            translocase complex.
REFERENCE   2  (bases 1 to 706)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279834.3473.1, SRR1163655.670005.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000321301.7/ ENSP00000313584.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB451927.1, BC034247.1 and BC029423.1.
            On Nov 22, 2018 this sequence version replaced NM_001001790.2.
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the shortest isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..706
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.2"
     gene            1..706
                     /gene="TOMM5"
                     /gene_synonym="bA613M10.3; C9orf105; Tom5"
                     /note="translocase of outer mitochondrial membrane 5"
                     /db_xref="GeneID:401505"
                     /db_xref="HGNC:HGNC:31369"
                     /db_xref="MIM:616169"
     misc_feature    51..53
                     /gene="TOMM5"
                     /gene_synonym="bA613M10.3; C9orf105; Tom5"
                     /note="upstream in-frame stop codon"
     CDS             66..221
                     /gene="TOMM5"
                     /gene_synonym="bA613M10.3; C9orf105; Tom5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mitochondrial import receptor subunit TOM5 homolog;
                     mitochondrial outer membrane protein TOM5; translocase of
                     outer mitochondrial membrane 5 homolog"
                     /codon_start=1
                     /product="mitochondrial import receptor subunit TOM5
                     homolog isoform 1"
                     /protein_id="NP_001001790.1"
                     /db_xref="CCDS:CCDS43803.1"
                     /db_xref="GeneID:401505"
                     /db_xref="HGNC:HGNC:31369"
                     /db_xref="MIM:616169"
                     /translation="MFRIEGLAPKLDPEEMKRKMREDVISSIRNFLIYVALLRVTPFIL
                     KKLDSI"
     misc_feature    66..68
                     /gene="TOMM5"
                     /gene_synonym="bA613M10.3; C9orf105; Tom5"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (Q8N4H5.1); acetylation site"
     misc_feature    144..200
                     /gene="TOMM5"
                     /gene_synonym="bA613M10.3; C9orf105; Tom5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4H5.1);
                     transmembrane region"
     regulatory      390..395
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOMM5"
                     /gene_synonym="bA613M10.3; C9orf105; Tom5"
                     /note="hexamer: TATAAA"
     polyA_site      415
                     /gene="TOMM5"
                     /gene_synonym="bA613M10.3; C9orf105; Tom5"
                     /note="major polyA site"
     regulatory      684..689
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOMM5"
                     /gene_synonym="bA613M10.3; C9orf105; Tom5"
                     /note="hexamer: AATAAA"
     polyA_site      706
                     /gene="TOMM5"
                     /gene_synonym="bA613M10.3; C9orf105; Tom5"
                     /note="major polyA site"
ORIGIN
        1 gggcgcgagg cggccaccgt ggagagcaga gcgcggcggc tggaagctgc taagtcagag
       61 ccgcgatgtt ccggattgag ggcctcgcgc cgaagctgga cccggaggag atgaaacgga
      121 agatgcgcga ggatgtgatc tcctccatac ggaactttct catctacgtg gccctcctgc
      181 gagtcactcc atttatctta aagaaattgg acagcatatg aagacaggac atcacatatg
      241 aatgcacgat atgaagagcc tggttacagt ttcgactcct ctctgcaagt gaataggccc
      301 agaaaggtgt aagagactct ttgaatggac ataaaattct gcttgttaag aacaagtttg
      361 gctctggtaa ctgaccttca aagctaaaat ataaaactat ttgggaagta tgaaacgatg
      421 tctcgtgatc tggtgtaccc ttatccctgt gacgtttggc ctctgacaat actggtataa
      481 ttgtaaataa tgtcaaactc cgttttctag caagtattaa gggagctgtg tctgaaatgg
      541 cactgtcttg tcagtcattt ctgtttacct ttttcttctg cccagagtgt atttgtgaag
      601 agtctcttat attatgtttt gtggaaatca gcacacaacc acaatgacat ttaagcacag
      661 gatcattatt agtctatgtt tttaataaac atatcaatta agaaaa
//
LOCUS       NM_001001794            4891 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens DENN domain containing 6B (DENND6B), mRNA.
ACCESSION   NM_001001794
VERSION     NM_001001794.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4891)
  AUTHORS   Navarini AA, Simpson MA, Weale M, Knight J, Carlavan I, Reiniche P,
            Burden DA, Layton A, Bataille V, Allen M, Pleass R, Pink A, Creamer
            D, English J, Munn S, Walton S, Willis C, Deret S, Voegel JJ,
            Spector T, Smith CH, Trembath RC and Barker JN.
  CONSRTM   Acne Genetic Study Group
  TITLE     Genome-wide association study identifies three novel susceptibility
            loci for severe Acne vulgaris
  JOURNAL   Nat Commun 5, 4020 (2014)
   PUBMED   24927181
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4891)
  AUTHORS   Linford A, Yoshimura S, Nunes Bastos R, Langemeyer L, Gerondopoulos
            A, Rigden DJ and Barr FA.
  TITLE     Rab14 and its exchange factor FAM116 link endocytic recycling and
            adherens junction stability in migrating cells
  JOURNAL   Dev Cell 22 (5), 952-966 (2012)
   PUBMED   22595670
REFERENCE   3  (bases 1 to 4891)
  AUTHORS   Marat AL, Dokainish H and McPherson PS.
  TITLE     DENN domain proteins: regulators of Rab GTPases
  JOURNAL   J Biol Chem 286 (16), 13791-13800 (2011)
   PUBMED   21330364
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.133591.1, BC031069.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000413817.8/ ENSP00000391524.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC031069.1, AA864612.1 and CR932344.3.
            On Nov 23, 2018 this sequence version replaced NM_001001794.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4891
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     gene            1..4891
                     /gene="DENND6B"
                     /gene_synonym="AFI1B; FAM116B"
                     /note="DENN domain containing 6B"
                     /db_xref="GeneID:414918"
                     /db_xref="HGNC:HGNC:32690"
     CDS             25..1782
                     /gene="DENND6B"
                     /gene_synonym="AFI1B; FAM116B"
                     /note="protein FAM116B; family with sequence similarity
                     116, member B; DENN domain-containing protein 6B; DENN/MADD
                     domain containing 6B"
                     /codon_start=1
                     /product="protein DENND6B"
                     /protein_id="NP_001001794.3"
                     /db_xref="CCDS:CCDS46732.1"
                     /db_xref="GeneID:414918"
                     /db_xref="HGNC:HGNC:32690"
                     /translation="MDALLGTGPRRARGCLGAAGPTSSGRAARTPAAPWARFSAWLECV
                     CVVTFDLELGQALELVYPNDFRLTDKEKSSICYLSFPDSHSGCLGDTQFSFRMRQCGGQ
                     RSPWHADDRHYNSRAPVALQREPAHYFGYVYFRQVKDSSVKRGYFQKSLVLVSRLPFVR
                     LFQALLSLIAPEYFDKLAPCLEAVCSEIDQWPAPAPGQTLNLPVMGVVVQVRIPSRVDK
                     SESSPPKQFDQENLLPAPVVLASVHELDLFRCFRPVLTHMQTLWELMLLGEPLLVLAPS
                     PDVSSEMVLALTSCLQPLRFCCDFRPYFTIHDSEFKEFTTRTQAPPNVVLGVTNPFFIK
                     TLQHWPHILRVGEPKMSGDLPKQVKLKKPSRLKTLDTKPGLYTAYTAHLHRDKALLKRL
                     LKGVQKKRPSDVQSALLRRHLLELTQSFIIPLEHYMASLMPLQKSITPWKTPPQIQPFS
                     QDDFLRSLEHAGPQLTCILKGDWLGLYRRFFKSPHFDGWYRQRHKEMALKLEALHLEAI
                     CEANIETWMKDKSEVEVVDLVLKLREKLVRAQGHQLPVKEATLQRAQLYIETVIGSLPK
                     DLQAVLCPP"
     regulatory      1934..1939
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DENND6B"
                     /gene_synonym="AFI1B; FAM116B"
                     /note="hexamer: AGTAAA"
     polyA_site      1958
                     /gene="DENND6B"
                     /gene_synonym="AFI1B; FAM116B"
                     /note="major polyA site"
     regulatory      4867..4872
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DENND6B"
                     /gene_synonym="AFI1B; FAM116B"
                     /note="hexamer: ATTAAA"
     polyA_site      4891
                     /gene="DENND6B"
                     /gene_synonym="AFI1B; FAM116B"
ORIGIN
        1 ccccggcaac ccgcggccgc cgccatggac gcgctgttgg gcacagggcc tcgccgggct
       61 cgcggctgcc tgggcgcggc tggacccacg tcttcaggtc gcgcggcgcg gaccccggcg
      121 gcgccctggg cgcgcttctc cgcctggctg gagtgtgtgt gcgtggtcac cttcgacctg
      181 gagctgggcc aggcgctgga gctggtgtat ccgaacgact tccggctcac agacaaggag
      241 aaaagcagca tctgctacct gtcttttccc gactcgcact caggctgcct tggagacact
      301 cagttcagct tccgcatgcg ccagtgtgga gggcagagga gcccctggca tgccgacgac
      361 aggcactaca acagcagggc ccctgtggca ctgcagaggg agccggcaca ctacttcggc
      421 tacgtgtact tcaggcaggt gaaggacagc tctgtgaaga ggggctactt ccagaagtct
      481 ttggtgctgg tgtcccgctt gccctttgtc cggctgttcc aagcgctgct aagcctcatc
      541 gcccccgagt actttgacaa gctggcgccc tgcctggaag cagtgtgcag tgagatcgac
      601 cagtggccgg cgcctgcacc tgggcagacc ctgaacctac ctgtcatggg cgttgttgtc
      661 caggtgcgca tcccatccag ggtggacaag tccgagtcca gtcctccgaa gcagtttgac
      721 caagagaacc tgctgccagc cccagtggtt cttgctagcg tccacgagct ggacctgttc
      781 aggtgcttcc ggcctgtgct gactcatatg cagacactgt gggagctcat gctcctcggg
      841 gagcccctgc tagtcctggc accctcgccc gacgtgtcct cggagatggt gctggccttg
      901 accagctgcc tgcagcccct caggttctgc tgcgacttcc gtccctactt caccatccat
      961 gacagcgagt tcaaggagtt caccacacgc acgcaggccc caccaaacgt ggtcctggga
     1021 gtcacaaacc ctttctttat caaaacactc cagcactggc cccacatcct ccgagtcggg
     1081 gagcccaaga tgtcaggaga cctgcctaag caagtcaagc tgaaaaagcc ttcaaggttg
     1141 aagaccctgg acaccaagcc aggcctctac accgcttaca cggcccacct ccaccgcgac
     1201 aaggcgctgc tcaaacggct gctcaagggc gtgcagaaga agcggccgtc agatgtgcag
     1261 agcgccctgc tgcggcggca cctcctggag ctcacccaga gcttcatcat ccccctggag
     1321 cactacatgg ccagcctcat gcccctgcag aagagcatca cgccctggaa gactcccccc
     1381 cagatccagc ccttcagcca ggatgacttc ctgcgtagcc tggagcatgc tgggccccag
     1441 ctcacctgca tcctcaaggg cgactggctg ggtctctaca ggcggttttt caagtccccc
     1501 cattttgatg gctggtaccg gcagcggcac aaggagatgg ccctgaagct ggaggccctg
     1561 cacctggagg ctatctgtga ggcgaacatc gagacctgga tgaaagacaa gtccgaggtg
     1621 gaggtcgtgg acctggtcct gaaacttcgt gagaagctgg tgcgggctca gggccaccag
     1681 ctccctgtga aggaggctac gctgcagcgg gcacagctgt acatcgagac ggtcatcggc
     1741 tccctgccca aagacctgca ggctgtcttg tgccctccct agaacaaagc caagggccac
     1801 ggtcccaggg ccctaggtct gcctgagcct cccactcccc agtggtggcg gcactgggcc
     1861 aagcacacgc tccccttcct tggccccccg cccagactgc aggctcccct tcctgcacca
     1921 ccattgtctc agcagtaaag gcgacatttg gaaccacagc atggccttga ccataggggt
     1981 tcctcgcagg cagagccttg cctcctcctg ggtcccacct ggcctctgca gaccttaggc
     2041 tgggacgggg gcggggacag gctgggagcc cttgctgatg tgggtgcgtc taccgtctgc
     2101 ccctcccggt gcccatctgt tggcccccga cccccctgcg ctgtgtgtga tgcttccctc
     2161 agcccaacag gctgcccagg acaggaggga ccctctcctg acacagcccc cgtcttgtct
     2221 ggggatggga ggctattttg catatagtca tcaacttgag aaagggagag accactttgc
     2281 agtgtgaaga gctctgctca ccacccctgg tgctcctctg gacacccacc tgcttggggc
     2341 tgtggtttgt tgggaggtag gggttgggca gggggctgtg tgcagcccag cacctctgct
     2401 aggagagctg gctcagcctg gctctcggag agccacagca ccttcctggc tcccagtcct
     2461 ggagccccca ccaggcacca gctccgtgcg tcccttctgg gaggtggaca gggctcctgt
     2521 tgtccaagtg tgtccgtcca tcccccacat gcagcccaag gggctctgga cttcggcctg
     2581 accctgcctc tggctggagc ctgcatgtct ccctttcctt ggtaaggggt gaacgtccct
     2641 aagagccacc tctgggttgt atgctccccc cgtgacacct gcaggcactg aggccggtga
     2701 ggtacggtgt tgaccctgca cagcacacag tgacggtact gtcagggctc cggacagcca
     2761 agccctgctc agcatcacgc actgtgtgcc cgggagcagg tcccctgacc actcagaccc
     2821 tcagactcct catctgagcg agccagccat gcagatgccc gacagggtgc tgggagggcc
     2881 actcatggag actgggcttt gtaccctgtg aggccgggcg ggtgctggcc aggggacaca
     2941 gggctggggg agggactttt tctttttttt tctttttgaa atggagtctc gctctgttgc
     3001 ccaggctgga gtgcagtggc atgatctcgg ctcactgcaa gctctgcctc ccgggttcac
     3061 gccattctcc tgcctcagcc tcccgagtag ctgggactac aggcacccac cactgcgctt
     3121 ggttaatttt ttgtatttgt agtagagaca gggtttcacc atgttagcca ggatggtctc
     3181 gatctcctga cctcgtaatc cgcccgcctc ggcctcccaa cgtgctagga ttacaggcat
     3241 gagccaccgc gcccggccgg gacttttctt tttcttctga ggcccccatt cagtccgagg
     3301 aatgtagcct tcattcagcg caacgtactg tttgtgttct cattggtgct ctcagacctc
     3361 cagccaggtg gtggagagcg agcactgcca gccacttcag tgcaggatgt gactgagcca
     3421 caaggacagc ggggtcaggt gtccgggcgc caggtagttc tcagaacttg gtacatgtca
     3481 acttgtccag cccaactgca gcccaggaca gcctgtccct gttcccattc tacagacaag
     3541 acgcggaggc agccgggagg gtgaccaagg ggagctgtta agccccagat gtctggtgca
     3601 gggtccaagg atgtgaccac atgaaacaga acacatagag gccgaggtgg caaacctgtt
     3661 ctgtggcagg gacaagccgg ggacccgagg gtgagaaagg tcctggcccc aaatgcagct
     3721 tgggcctcct gactgtagca cagggggacc agcctcccca ctgagggctt ggtctctaga
     3781 gggtctgcag agatgctggc acctcttgtg tgggcagctt gaatgctgac ctccataaga
     3841 tggggcctgg ggggccagta caggccctgc catcagctgc cctccaccag ggccctctgc
     3901 aaaagcctta tgctggtgac cagccccctg aggaccacca cttcaaggtg tcggggcagc
     3961 ttgggaagac aacccacctc tctcacaact gtgaccccac tttggggagc gcaccccaag
     4021 gaccgtggca gcatgtgctt ccccacagca cagtctcgcc tcacttggct ttctgagggc
     4081 tgccgcacag cacagagggc tgcagaccca catggctgca ggggaggggc ttcaggctgg
     4141 tctctgagga gcccccaggg accctggcca ctgtgtatcc agaaatgcac aagcagattt
     4201 ccctggaggg ctctggtgag gccacatagt ggcgtgtgaa gggggaactt gaggggggaa
     4261 ccgggctggg tggccagcat tgccctgggc agaagctaag gctaaggtgg ggggtagtgt
     4321 cccagcccct cttcctcagg gcctgtcccc acctgtgcag aagaggcctg gggtggaatg
     4381 tggcctgggg tggatgggtg ggggctgggc gtggagacct gccagctcca tctgtccgga
     4441 tgcctcttgt ggccccccca gtgtcagggc cgctctgagt tggctgagcc tctgtccagg
     4501 gctaggccat ggccctcccc gccccacgca ctccaggcca ggggcagtca gtgaagaggc
     4561 aggaaggtcc agacagctct acccctggcc agagtgccag cccccgcagg caagagggct
     4621 tgctgggcag aacttagttg gcgagggtga ggactgctgt ggtcacaggc ctcccgaagg
     4681 acagggacca cagaacctag agggtgggaa gggctgggag caggtctgga gtggggctcg
     4741 gggctgaggg tgcacacagg gggcctgctc agggacagga aggacagctg ctcaccctca
     4801 agcttcctgc tggctattta aagactccct tttagtctag aacagtggcc ttcccacagt
     4861 tttggtatta aaatgtcctt ttgtgactgg a
//
LOCUS       NM_001001795            2455 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens chromosome 8 open reading frame 82 (C8orf82), mRNA.
ACCESSION   NM_001001795
VERSION     NM_001001795.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2455)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz
            TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha
            SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA,
            McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley
            KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM,
            Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan
            A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko
            Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC,
            Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS,
            Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones
            SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC064373.1, SRR1163658.389667.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA2142348
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000524821.6/ ENSP00000436621.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC084125.9 and BC064373.1.
            On May 17, 2019 this sequence version replaced NM_001001795.1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2455
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..2455
                     /gene="C8orf82"
                     /note="chromosome 8 open reading frame 82"
                     /db_xref="GeneID:414919"
                     /db_xref="HGNC:HGNC:33826"
     misc_feature    163..165
                     /gene="C8orf82"
                     /note="upstream in-frame stop codon"
     CDS             196..846
                     /gene="C8orf82"
                     /codon_start=1
                     /product="UPF0598 protein C8orf82"
                     /protein_id="NP_001001795.1"
                     /db_xref="CCDS:CCDS34970.1"
                     /db_xref="GeneID:414919"
                     /db_xref="HGNC:HGNC:33826"
                     /translation="MWPPCGTLRTLALARSRGARACSGDGGVSYTQGQSPEPRTREYFY
                     YVDHQGQLFLDDSKMKNFITCFKDPQFLVTFFSRLRPNRSGRYEAAFPFLSPCGRERNF
                     LRCEDRPVVFTHLLTADHGPPRLSYCGGGEALAVPFEPARLLPLAANGRLYHPAPERAG
                     GVGLVRSALAFELSACFEYGPGAPALPSHVRWQGRRLALTMDLAPLLLAARSP"
     regulatory      1946..1951
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8orf82"
                     /note="hexamer: ATTAAA"
     polyA_site      1969
                     /gene="C8orf82"
                     /note="major polyA site"
ORIGIN
        1 gtcaccggca cacgcctctc ggaaggccag ggcgggcgag cccccgaggc ccgagggaga
       61 gggaagagcg ccgggcccgg gtcgcggagg cgggcgccgc cggaacgcga agcgcggggc
      121 tactgcgggc aggcgcgagt tcgcgcagca ccgcccccgg cgtgacctgc tggtcgcttc
      181 cggcgcggga ggagaatgtg gccgccttgc gggacgctcc ggaccctggc cttggcgcgg
      241 tcgcggggag cccgggcctg cagcggggat gggggcgttt cctacacgca gggccagagt
      301 ccggagccgc ggacccgcga gtatttctac tacgtggacc accagggcca gcttttcctg
      361 gatgattcca aaatgaagaa tttcatcacc tgcttcaaag acccgcagtt cctggtcacc
      421 ttcttctccc gcctgagacc caaccgcagc gggcgctacg aggccgcttt ccccttcctc
      481 tcgccctgcg gcagagagcg caacttcctg cgctgcgagg accggccggt ggtcttcacg
      541 cacctgctga ccgcggacca cgggcctccg cgcctctcct actgcggcgg tggcgaggcc
      601 ctggccgtgc ccttcgagcc ggcgcgcctg ctgcccctgg ccgccaacgg gcgcctgtac
      661 cacccggcgc cggagcgtgc gggcggcgtg ggcctggtgc gctccgccct ggccttcgag
      721 ctcagcgcct gcttcgagta cgggcccggc gcgcctgcgc tgccctcgca cgtgcgctgg
      781 cagggccgcc gcctcgccct caccatggac ctggccccgc tgctgctcgc ggctcggtcg
      841 ccctgagcgg ggccaaggga aaggcgggag gccgcgggcg cctctcgccc cgctcccccg
      901 ggactccacg ccccggaaag cccgcgccac ccgcgctcgc ggcagcctag tgcgcctgcg
      961 cgctcggccc cgcccccacc cggcgctgtc cttggtgctg ccgcggcccg gccctcccgg
     1021 acaccccgct ccccacggcg cgcgcccccc gcgcacccga ctccggcgcc ctccggattg
     1081 gcctgcgctc gagacgtcag gcactggcgg cgggcgcggg gctctggtgc gcgtgcgcga
     1141 gcgtcccccg ccccctccca gcccggcgac tgctcgggcc cggccgccac ctgcacggcg
     1201 ggggagccgc tcgccgcggg agcgtcaggt gaggggacgc ccgacccaag gtcaccaggc
     1261 gtgggggcgc tgggggatcg gggaccatcc cggctctgac cctggtgcgc tccgagaagg
     1321 gcgtgggtcc tggaggggga tggggaacgc ggaggccacg ccctccctga gcccggccga
     1381 aaatcaaccg gctctcgtgg gtagcagagg aggccgtggg ggatacaggc accaggtcgc
     1441 agcgctgcag aggtgcgcaa gggccgccca aagaccagct tgggcctcgc actgcgcccg
     1501 aggcagacac agggcgttcc atcctcttcc ctccccgctc ccgcacagag gggcgcccag
     1561 gaggcagtga cagtcgtcgc ggaatcctgc gtgtgacacc ccgcccctgc ccagcggatt
     1621 agggagttgt cctctggtaa aaggatttct gggctgcttc cagcttgggg ccctcatccc
     1681 tgccctggca ggcctttcta caccgatctg catctagtgg ggggtcagcg tgagcagcag
     1741 cgccgtgagt tctgaggcca agaaccttct ccacttgaga agccttcctg ggggaggctg
     1801 agtgggccag gcctggagcc acgtaccaac actttatacc caggggaatg gatcccaagg
     1861 gcccagataa cgcccccaac ttcttggggt tcacacgcgt cctgagacat ctgggaactg
     1921 cctctgcctg ggccaaagct attccattaa aactttattg ctgtgcttac ttatttctag
     1981 tgactttaaa taatcatgtg agttacaatt tagggcaaga tttaaacacc aaggccactt
     2041 ggtcctgtcc ctttccacat gactcgaaag gaggaagagc tgatggacag gcaaatgttt
     2101 ggggaggccg gccagatgag gctgggagac aggacacctg cagccctgtt ttccctggct
     2161 tcgggtgggc tggctggctt agcccagatc cctactttta aaactgggct ccttgttcct
     2221 gaaaccagac cccagccttc ccatttcttt acgacaagta catgtatatg gtcccccagc
     2281 aaactccctg ctccttgctg atctcagagg tcacactgct cccagagccc acttgggaag
     2341 ccacaccaga aacccagttg gtggcccaag gcgtcccctg tcccacccca gctttcccag
     2401 ggccccatct atccccaaag acaggacacc tttctgggga ccggcatggg aagca
//
LOCUS       NM_001001802            4946 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily A member 42
            (OR2A42), mRNA.
ACCESSION   NM_001001802
VERSION     NM_001001802.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4946)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 4946)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641810.1/ ENSP00000493333.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004889.1.
            On Aug 11, 2020 this sequence version replaced NM_001001802.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on partial alignments and paralogous comparisons.
FEATURES             Location/Qualifiers
     source          1..4946
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q35"
     gene            1..4946
                     /gene="OR2A42"
                     /note="olfactory receptor family 2 subfamily A member 42"
                     /db_xref="GeneID:402317"
                     /db_xref="HGNC:HGNC:31230"
     misc_feature    299..301
                     /gene="OR2A42"
                     /note="upstream in-frame stop codon"
     CDS             347..1279
                     /gene="OR2A42"
                     /note="olfactory receptor OR7-16; olfactory receptor
                     OR7-19; olfactory receptor, family 2, subfamily A, member
                     1"
                     /codon_start=1
                     /product="olfactory receptor 2A1/2A42"
                     /protein_id="NP_001001802.2"
                     /db_xref="CCDS:CCDS56515.1"
                     /db_xref="GeneID:402317"
                     /db_xref="HGNC:HGNC:31230"
                     /translation="MGENQTMVTEFLLLGFLLGPRIQMLLFGLFSLFYIFTLLGNGAIL
                     GLISLDSRLHTPMYFFLSHLAVVDIAYTRNTVPQMLANLLHPAKPISFAGCMTQTFLCL
                     SFGHSECLLLVLMSYDRYVAICHPLRYSVIMTWRVCITLAVTSWTCGSLLALAHVVLIL
                     RLPFSGPHEINHFFCEILSVLRLACADTWLNQVVIFAACVFFLVGPPSLVLVSYSHILA
                     AILRIQSGEGRRKAFSTCSSHLCVVGLFFGSAIIMYMAPKSRHPEEQQKVFFLFYSFFN
                     PTLNPLIYSLRNGEVKGALRRALGKESHS"
     misc_feature    356..358
                     /gene="OR2A42"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGT9.2); glycosylation site"
     misc_feature    419..490
                     /gene="OR2A42"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT9.2);
                     transmembrane region"
     misc_feature    515..580
                     /gene="OR2A42"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT9.2);
                     transmembrane region"
     misc_feature    644..703
                     /gene="OR2A42"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT9.2);
                     transmembrane region"
     misc_feature    761..817
                     /gene="OR2A42"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT9.2);
                     transmembrane region"
     misc_feature    932..1000
                     /gene="OR2A42"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT9.2);
                     transmembrane region"
     misc_feature    1052..1120
                     /gene="OR2A42"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT9.2);
                     transmembrane region"
     misc_feature    1160..1219
                     /gene="OR2A42"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT9.2);
                     transmembrane region"
ORIGIN
        1 tcactgtgga catatacagc tggaacacag gagatgagca tgcaggaggt ttcatggccc
       61 agctcctcca gtgatccctc agctgtcaac caggctgagc acatcagaga ataacacctc
      121 cttttctgag gattctgata cattttcaat cagaaacaga agcaaagatt ctgcagctcc
      181 cacagaaact cccagaaacc ttcaggtgct tcactcttct gagatccttg agtccaaatg
      241 tgggagctaa ccaggttgcc tctttttact ttaccatgaa ttcctcctag acatgttgta
      301 gctcctggtc ttggttaact ttcacatcca ctacaaacat tgggaaatgg gggaaaatca
      361 gacaatggtc acagagttcc tcctactggg atttctcctg ggcccaagga ttcagatgct
      421 cctctttggg ctcttctccc tgttctatat cttcaccctg ctggggaacg gggccatcct
      481 ggggctcatc tcactggact ccagactcca cacccccatg tacttcttcc tctcacacct
      541 ggctgtcgtc gacatcgcct acacccgcaa cacggtgccc cagatgctgg cgaacctcct
      601 gcatccagcc aagcccatct cctttgctgg ttgcatgacg cagacctttc tctgtttgag
      661 ttttggacac agcgaatgtc tcctgctggt gctgatgtcc tacgatcgtt acgtggccat
      721 ctgccaccct ctccgatact ccgtcatcat gacctggaga gtctgcatca ccctggccgt
      781 cacttcctgg acgtgtggct ccctcctggc tctggcccat gtggttctca tcctaagact
      841 gcccttctct gggcctcatg aaatcaacca cttcttctgt gaaatcctgt ctgtcctcag
      901 gctggcctgt gctgacacct ggctcaacca ggtggtcatc tttgcagcct gcgtgttctt
      961 cctggtgggg ccacccagcc tggtgcttgt ctcctactcg cacatcctgg cggccatcct
     1021 gaggatccag tctggggagg gccgcagaaa ggccttctcc acctgctcct cccacctctg
     1081 cgtggtggga ctcttctttg gcagtgccat catcatgtac atggccccca agtcccgcca
     1141 tcctgaggag cagcaaaagg tcttttttct attttacagt tttttcaacc caacacttaa
     1201 ccccctgatt tacagcctga ggaacggaga ggtcaagggt gccctgagga gagcactggg
     1261 caaggaaagt cattcctaac tggtgtgaca tttgactctc cctcctcagt catctcctgg
     1321 aatcttggta ccaaatacca cctaagttca ctactctctt tatatctgag actgaatgaa
     1381 ccaagagact ctgcaaagca ttcctttttc ctgcctggga agtatttagt ttttgatgca
     1441 tttgttatac ttaacatttt ttaatttaag cacttattga gttgagaatg ttggggaaag
     1501 atttattttg tacactgcta tgagtccaga agtttaaaac agacactcca cctgtgactt
     1561 agtcaggtat gctcagtagt agaggaatag cagttattac cagataaagt catatctata
     1621 aaaagttttt aaaaatacag ccacaggcag agactccaga acccattgat acctctgtcc
     1681 attttcatcc tcatttggat gtttcccctc aattgtactt cctttcttat aagcagtaaa
     1741 tgtacctaag tgcctacttc agcttggagg gaaattgatt tttataaaat cctacaaact
     1801 gacaatttct gttgtcagag agagtgaatc cataaacatt cagctggcaa tctgaagcaa
     1861 ttacacaaca aaatccactt tccaacctgc cctgagactg tgatggtcac ttgtttctac
     1921 tcttctcacc tcctccaggg gactgtctat gattgtctct aaataagcac atgctcttca
     1981 cttagaggaa gttagtacca ccacacaact tttcactgct ggggacgaat ggaaagcccc
     2041 acacagagac aattcaatgg aaaaaagcgt tttaataata atgttaatag ttagcattat
     2101 tataaattac tctgcaccat ccactgcaca ttgataggta ctttatagag ataacctcag
     2161 tttatcatta tagccaattc atttcccatt attatcccat tttatagatg tgaacttcaa
     2221 gcagatggta aatgttagac tcatacccaa acaatctggc tcccaagcct tctttactta
     2281 accaggacaa tgtgggactt tattagcaac atttcaaatt aagaataagt ctaaccaatc
     2341 ctaacgtagg atatgttaag tgaatgtggg tttcttcccc atctagaatg tgccatgatg
     2401 aggccaggag agtcagagat tatttatgga aggcttctta tcctgtttga cgagtcctgt
     2461 gggcatggct gcaaaggagg ttaagagatt cagaggaaca cagaacacag acagggtggg
     2521 agtagaggct gttctcaatg agattagaga gtaagtttag aactatactt ggttctgggt
     2581 ggtaagatcc agaacaaaga catctctagt tcacgtacaa cactcacatg ctcacgtaca
     2641 tgcgtgcgcg cacacacaca cacacacata tacgcacagt gcttagtgaa gcactattcc
     2701 aagaacctta caagtaagag ctctttaagt cctcataaaa accctatgag gtagagacta
     2761 ttactactat ttttaggcga gaaaacagaa ctatagagag attatataat ttaaccaatg
     2821 ctcccagcta ataagtacct agtccagaat caaacttagg caatatgact gctgaaccca
     2881 taatcgtaac cattatataa aaatcaaaga gatcatgaaa tttccaaaga tgaagaggag
     2941 gagagatgaa aagcaatttt caatctctag ccaaagatag gcattgggct ccagacagaa
     3001 aagtacttaa agctggggga aaaacaaaca aacaaacaaa caaacaaaca aaaaacagct
     3061 ttttttatac tggtgcgtga aatgagatga ggtggtagca agaaggaact gtgactccaa
     3121 gggtcagaga cggaggagga gcctcttgac gggcaggatg gtgaaaccaa aaacaatgga
     3181 taaaactttt aagttgatgg ttcatcaatt gaagaacatt agaaagtgtt tttgtaaatt
     3241 atctagccgg gcatggcaac gtgtgcctac atccccagct attcgggagg ctgaggcaag
     3301 aggatcactt gagccaggga ttttgaggct gcagtgagcc atgatcgcac cactgcattc
     3361 cagcctgggt gacagagtga gaccttgtct ccaacaataa taacaatgaa ataatttatt
     3421 aaatttttta aaattaccca aactggatat acaatttgta attccattgc tgccgaacag
     3481 tttttaaacg gttgtttagt ttcacggcag atgctgcata ctgcattgca actaacactg
     3541 ggaagggata cattcaagtg gcaggacaaa ggtgaggagc tctaatacca ggggtaggtt
     3601 tcaagggatg aatactcccc tggtaccaga ggagcagcag gaaatcatgg tgtgcagaaa
     3661 ccatgctcag gcggttgcct gtgtggaccc taaattctgt gtgtgcagtc ctctcttagg
     3721 attggcccag gcatccagga agcccacgat gctgcctacc ccttaaatac acaaggtgcg
     3781 taccggaggc cctggttcta gttccagatg taccatttgc tagctgtgtt ttttgcagag
     3841 aagtccctta aactgcttaa gcttcagtcc ttcatctgaa aattatgcat atggaagctg
     3901 tttaggacac cacagagtgc cactgaaaac ccaaagcaag atgcaaatgg acacattttt
     3961 tttctgaaga cttaaaagtg ctatgtgaac ataagataaa ctgttatgat taccctgctg
     4021 tcagaagtta ttttaaacct gtcagggttg ctaaactttc tgatctggaa ccaaaattgc
     4081 tctttaaaca ggaagagcat tggtgctggt aggtcaccta cgcctttgcc ctcatggctt
     4141 ccccatgtcc cccctagagg cacaggaggc cactcactct tggagggcat agctggacca
     4201 ggagcatgag ctgtggccca gactcaggga acctctgtga gtcagctggc aaaggctccc
     4261 ggggagcctg tctctgaatc tggtcctagc ccgttcactt ggaaaaaaca ggagacttct
     4321 cccaaggtca aggaattcag attttggttt tggtttccaa ctttttgtaa tcctcaacct
     4381 gggatttaca gtgcatgtct caattatgtt tcattcattg cttcacaaag ggaaggacaa
     4441 gcactggttc atctctttac acctatacat tcctagcaca gagtgagtac tcacaaaaaa
     4501 catacggaat acatagagga cactttatct gttgacccca tttccaaatt ttcagtgttg
     4561 agccatcttc tgatttctaa acttctttaa atccctctaa ttttaggtca tactacagta
     4621 gaaatttaat tgtagctgat aattattgag cacttactat gtggttggca ctgcataaaa
     4681 tgctttagaa aaattcttac atcaaatatg tggagtaggt actaatacta tcctaacatt
     4741 aaaggggggg gggaaataaa gtttagtgta attaattaat ttattcaagg tcgccaaatc
     4801 attcagtggt agaaacatga atcaagacca ggcagtctga ctgtaaataa attctgagcc
     4861 actctcttgc agaggacctc ctgatattca tctcctgaat ggttggcaac aggcctgttc
     4921 atagtagaca ctcaataaac tttgac
//
LOCUS       NM_001001821             957 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily T member 34
            (OR2T34), mRNA.
ACCESSION   NM_001001821
VERSION     NM_001001821.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 957)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136926.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000328782.3/ ENSP00000330904.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC098483.2.
            On Aug 30, 2004 this sequence version replaced XM_060309.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..957
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..957
                     /gene="OR2T34"
                     /note="olfactory receptor family 2 subfamily T member 34"
                     /db_xref="GeneID:127068"
                     /db_xref="HGNC:HGNC:31256"
     CDS             1..957
                     /gene="OR2T34"
                     /note="olfactory receptor OR1-63"
                     /codon_start=1
                     /product="olfactory receptor 2T34"
                     /protein_id="NP_001001821.1"
                     /db_xref="CCDS:CCDS31120.1"
                     /db_xref="GeneID:127068"
                     /db_xref="HGNC:HGNC:31256"
                     /translation="MCSGNQTSQNQTASTDFTLTGLFAESKHAALLYTVTFLLFLMALT
                     GNALLILLIHSEPRLHTPMYFFISQLALMDLMYLCVTVPKMLVGQVTGDDTISPSGCGI
                     QMFFHLTLAGAEVFLLAAMAYDRYAAVCRPLHYPLLMNQRVCQLLVSACWVLGMVDGLL
                     LTPITMSFPFCQSRKILSFFCETPALLKLSCSDVSLYKMLTYLCCILMLLTPIMVISSS
                     YTLILHLIHRMNSAAGRRKALATCSSHMIIVLLLFGASFYTYMLRSSYHTAEQDMMVSA
                     FYTIFTPVLNPLIYSLRNKDVTRALRSMMQSRMNQEK"
     misc_feature    13..15
                     /gene="OR2T34"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGX1.1); glycosylation site"
     misc_feature    28..30
                     /gene="OR2T34"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGX1.1); glycosylation site"
     misc_feature    91..162
                     /gene="OR2T34"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX1.1);
                     transmembrane region"
     misc_feature    187..252
                     /gene="OR2T34"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX1.1);
                     transmembrane region"
     misc_feature    316..375
                     /gene="OR2T34"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX1.1);
                     transmembrane region"
     misc_feature    433..489
                     /gene="OR2T34"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX1.1);
                     transmembrane region"
     misc_feature    601..672
                     /gene="OR2T34"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX1.1);
                     transmembrane region"
     misc_feature    724..792
                     /gene="OR2T34"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX1.1);
                     transmembrane region"
     misc_feature    832..891
                     /gene="OR2T34"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX1.1);
                     transmembrane region"
ORIGIN
        1 atgtgctcag ggaatcagac ttctcagaat caaacagcaa gcactgattt caccctcacg
       61 ggactctttg ctgagagcaa gcatgctgcc ctcctctaca ccgtgacctt ccttcttttc
      121 ttgatggccc tcactgggaa tgccctcctc atcctcctca tccactcaga gccccgcctc
      181 cacaccccca tgtacttctt catcagccag ctcgcgctca tggatctcat gtacctatgc
      241 gtgactgtgc ccaagatgct tgtgggccag gtcactggag atgataccat ttccccgtca
      301 ggctgtggga tccagatgtt cttccacctg accctggctg gagctgaggt tttcctcctg
      361 gctgccatgg cctatgaccg atatgctgct gtttgcagac ctctccatta cccactgctg
      421 atgaaccaga gggtgtgcca gctcctggtg tcagcctgct gggttttggg aatggttgat
      481 ggtttgttgc tcacccccat taccatgagc ttcccctttt gccagtctag gaaaatcctg
      541 agttttttct gtgagactcc tgccctgctg aagctctcct gctctgacgt ctccctctat
      601 aagatgctca cgtacctgtg ctgcatcctc atgcttctca cccccatcat ggtcatctcc
      661 agctcataca ccctcatcct gcatctcatc cacaggatga attctgccgc cggccgcagg
      721 aaggccttgg ccacctgctc ctcccacatg atcatagtgc tgctgctctt cggtgcttcc
      781 ttctacacct acatgctccg gagttcctac cacacagctg agcaggacat gatggtgtct
      841 gccttttaca ccatcttcac tcctgtgctg aaccccctca tttacagtct ccgcaacaaa
      901 gatgtcacca gggctctgag gagcatgatg cagtcaagaa tgaaccaaga aaagtag
//
LOCUS       NM_001001824            1136 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily T member 27
            (OR2T27), transcript variant 2, mRNA.
ACCESSION   NM_001001824
VERSION     NM_001001824.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1136)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1136)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: lack of evidence for use of
            upstream AUG
            MANE Ensembl match :: ENST00000460972.4/ ENSP00000493412.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC098483.2.
            On Aug 5, 2020 this sequence version replaced NM_001001824.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1136
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..1136
                     /gene="OR2T27"
                     /note="olfactory receptor family 2 subfamily T member 27"
                     /db_xref="GeneID:403239"
                     /db_xref="HGNC:HGNC:31252"
     misc_feature    12..14
                     /gene="OR2T27"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MYYLSSVRFLSKYSDHRVWGRYCVRA"
     CDS             90..1043
                     /gene="OR2T27"
                     /note="olfactory receptor OR1-67"
                     /codon_start=1
                     /product="olfactory receptor 2T27"
                     /protein_id="NP_001001824.1"
                     /db_xref="CCDS:CCDS31124.1"
                     /db_xref="GeneID:403239"
                     /db_xref="HGNC:HGNC:31252"
                     /translation="MEQSNYSVYADFILLGLFSNARFPWLLFALILLVFLTSIASNVVK
                     IILIHIDSRLHTPMYFLLSQLSLRDILYISTIVPKMLVDQVMSQRAISFAGCTAQHFLY
                     LTLAGAEFFLLGLMSYDRYVAICNPLHYPVLMSRKICWLIVAAAWLGGSIDGFLLTPVT
                     MQFPFCASREINHFFCEVPALLKLSCTDTSAYETAMYVCCIMMLLIPFSVISGSYTRIL
                     ITVYRMSEAEGRGKAVATCSSHMVVVSLFYGAAMYTYVLPHSYHTPEQDKAVSAFYTIL
                     TPMLNPLIYSLRNKDVTGALQKVVGRCVSSGKVTTF"
     misc_feature    102..104
                     /gene="OR2T27"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH04.1); glycosylation site"
     misc_feature    156..218
                     /gene="OR2T27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH04.1);
                     transmembrane region"
     misc_feature    270..338
                     /gene="OR2T27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH04.1);
                     transmembrane region"
     misc_feature    381..443
                     /gene="OR2T27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH04.1);
                     transmembrane region"
     misc_feature    507..569
                     /gene="OR2T27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH04.1);
                     transmembrane region"
     misc_feature    681..743
                     /gene="OR2T27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH04.1);
                     transmembrane region"
     misc_feature    822..884
                     /gene="OR2T27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH04.1);
                     transmembrane region"
     misc_feature    903..965
                     /gene="OR2T27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH04.1);
                     transmembrane region"
ORIGIN
        1 tgaacaattg catgtactac cttagttctg taaggtttct ctctaaatat tcagatcatc
       61 gtgtttgggg aagatactgt gtaagagcta tggagcagag caattattcc gtgtatgccg
      121 actttatcct tctgggtttg ttcagcaacg cccgtttccc ctggcttctc tttgccctca
      181 ttctcctggt ctttttgacc tccatagcca gcaacgtggt caagatcatt ctcatccaca
      241 tagactcccg cctccacacc cccatgtact tcctgctcag ccagctctcc ctcagggaca
      301 tcctgtatat ttccaccatt gtgcccaaaa tgctggtcga ccaggtgatg agccagagag
      361 ccatttcctt tgctggatgc actgcccaac acttcctcta cttgacctta gcaggggctg
      421 agttcttcct cctaggactc atgtcctatg atcgctacgt agccatctgc aaccctctgc
      481 actatcctgt cctcatgagc cgcaagatct gctggttgat tgtggcggca gcctggctgg
      541 gagggtctat cgatggtttc ttgctcaccc ccgtcaccat gcagttcccc ttctgtgcct
      601 ctcgggagat caaccacttc ttctgcgagg tgcctgccct tctgaagctc tcctgcacgg
      661 acacatcagc ctacgagaca gccatgtatg tctgctgtat tatgatgctc ctcatccctt
      721 tctctgtcat ctcgggctct tacacaagaa ttctcattac tgtttatagg atgagcgagg
      781 cagaggggag gggaaaggct gtggccacct gctcctcaca catggtggtt gtcagcctct
      841 tctatggggc tgccatgtac acatacgtgc tgcctcattc ttaccacacc cctgagcagg
      901 acaaagctgt atctgccttc tacaccatcc ttactcccat gctcaatcca ctcatttaca
      961 gccttaggaa caaggatgtc acaggggccc tacagaaggt tgtggggagg tgtgtgtcct
     1021 caggaaaggt aaccactttc taaagaaatt tcatatgctg ctagagactt gaaatgaagg
     1081 atacaagact ttatcattgc ccttgaattt aaatattctc tgcctggaaa caagtg
//
LOCUS       NM_001001827            2957 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily T member 35
            (OR2T35), mRNA.
ACCESSION   NM_001001827
VERSION     NM_001001827.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2957)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2957)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641268.1/ ENSP00000492995.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC098483.2.
            On Aug 4, 2020 this sequence version replaced NM_001001827.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2957
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..2957
                     /gene="OR2T35"
                     /note="olfactory receptor family 2 subfamily T member 35"
                     /db_xref="GeneID:403244"
                     /db_xref="HGNC:HGNC:31257"
     misc_feature    25..27
                     /gene="OR2T35"
                     /note="upstream in-frame stop codon"
     CDS             55..1026
                     /gene="OR2T35"
                     /note="olfactory receptor OR1-66"
                     /codon_start=1
                     /product="olfactory receptor 2T35"
                     /protein_id="NP_001001827.1"
                     /db_xref="CCDS:CCDS31123.1"
                     /db_xref="GeneID:403244"
                     /db_xref="HGNC:HGNC:31257"
                     /translation="MGMEGLLQNSTNFVLTGLITHPAFPGLLFAVVFSIFVVAITANLV
                     MILLIHMDSRLHTPMYFLLSQLSIMDTIYICITVPKMLQDLLSKDKTISFLGCAVQIFY
                     LTLIGGEFFLLGLMAYDRYVAVCNPLRYPLLMNRRVCLFMVVGSWVGGSLDGFMLTPVT
                     MSFPFCRSREINHFFCEIPAVLKLSCTDTSLYETLMYACCVLMLLIPLSVISVSYTHIL
                     LTVHRMNSAEGRRKAFATCSSHIMVVSVFYGAAFYTNVLPHSYHTPEKDKVVSAFYTIL
                     TPMLNPLIYSLRNKDVAAALRKVLGRCGSSQSIRVATVIRKG"
     misc_feature    79..81
                     /gene="OR2T35"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGX2.1); glycosylation site"
     misc_feature    133..204
                     /gene="OR2T35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX2.1);
                     transmembrane region"
     misc_feature    229..294
                     /gene="OR2T35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX2.1);
                     transmembrane region"
     misc_feature    358..414
                     /gene="OR2T35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX2.1);
                     transmembrane region"
     misc_feature    472..528
                     /gene="OR2T35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX2.1);
                     transmembrane region"
     misc_feature    640..711
                     /gene="OR2T35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX2.1);
                     transmembrane region"
     misc_feature    763..831
                     /gene="OR2T35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX2.1);
                     transmembrane region"
     misc_feature    871..930
                     /gene="OR2T35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX2.1);
                     transmembrane region"
ORIGIN
        1 ccattggtga tatccttgac aatgtagttt agcccaagga gcttgtcatg gaccatgggc
       61 atggagggtc ttctccagaa ctccactaac ttcgtcctca caggcctcat cacccatcct
      121 gccttccccg ggcttctctt tgcagtagtc ttctccatct ttgtggtggc tataacagcc
      181 aacttggtca tgattctgct catccacatg gactcccgcc tccacacacc catgtacttc
      241 ttgctcagcc agctctccat catggatacc atctacatct gtatcactgt ccccaagatg
      301 ctccaggacc tcctgtccaa ggacaagacc atttccttcc tgggctgtgc agttcaaatc
      361 ttctacctga ccctgattgg aggggaattc ttcctgctgg gtctcatggc ctatgaccgc
      421 tatgtggctg tgtgcaaccc tctacggtac cctctcctca tgaaccgcag ggtttgctta
      481 ttcatggtgg tcggctcctg ggttggtggt tccttggatg ggttcatgct gactcctgtc
      541 actatgagtt tccccttctg tagatcccga gagatcaatc actttttctg tgagatccca
      601 gccgtgctga agttgtcttg cacagacacg tcactctatg agaccctgat gtatgcctgc
      661 tgcgtgctga tgctgcttat ccctctatct gtcatctctg tgtcctacac gcacatcctc
      721 ctgactgtcc acaggatgaa ctctgctgag ggccggcgca aagcctttgc tacgtgttcc
      781 tcccacatta tggtggtgag cgttttctac ggggcagcct tctacaccaa cgtgctgccc
      841 cactcctacc acactccaga gaaagataaa gtggtgtctg ccttctacac catcctcacc
      901 cccatgctca acccactcat ctacagcttg aggaataaag atgtggctgc agctctgagg
      961 aaagtactag ggagatgtgg ttcctcccag agcatcaggg tggcgactgt gatcaggaag
     1021 ggctagcagg gactcccaga gtatcagagt ggtgactgtg atcgggaagg attagcgggg
     1081 actcccagag catcaggggt ggtgactgat caggaaggac tagcagggac tagtgcaaac
     1141 atctgcggtg ctgcggccaa taacgcagct attacagaaa atatggtatt ggttctgaag
     1201 aatgttcagt gtcactttca gcaattcaaa attaacaggc aaaatcatcc tgttgcaagg
     1261 attacttagg aacagtagcg aagttggtga gcatctccgc attagtcaac tttgttcaac
     1321 tggattcaca aacatttcca gagggcattc tcagtcaagt agccctacaa accattcatg
     1381 gcacgccaag cagctcttgg aagtgcccat gttaacatgt gaccatgagt ccttcctgtc
     1441 tgtattgcta acgtgtgatc atgagtcctg cctgcctgta ttgctgacgt gtgatcatga
     1501 gtcctgcctg tctgtattgc taacgtgtga tgagtccttc tgtgtctgta ttgctaacgt
     1561 gtgatcgtga gtccttcctg tctatattgc taatgtgtga ccatgagtcc tgcctgtctg
     1621 tattgctaac gtgtgaccat gagtcctgcc tgtctgtatt gctaacgtgt gatcatgggt
     1681 cctgcctgtc tgtattgcta acgtgtgatc atgggtcctg cctgtctgta ttgctaacac
     1741 gtgattgagt cctgcctgtc tctattgtta acctgtgatc atgagtcctg cctgtctgtc
     1801 tgtattgctg accaactttt gaatggaaat tggaaggagc atttgccacc tccttgatga
     1861 cttaatttca aacattcaat acaagtaaaa tattttctag tgctaaatgt gtagcaattt
     1921 tattagaaaa catttaggaa ggtgatacta tttttggttc catgttctta gttacatttt
     1981 atgaatgtta tcacttacct ctgaaattaa atacttgccc tgcctttatt cacatggagt
     2041 ccaatatatt cctggaaata ttgattcatt gattgaaaat tgactctgcc attaagattg
     2101 ttacatggcc aaaaacctac aaaactgcca tttatgctca aattgttaat agataaatgt
     2161 agaatgaata aaccaagaca ttttattagc taacttagtt cccgtggaat aagttgctca
     2221 attttcttat tctcaacatc ttcattgata tgctgaagac aagtattttt gtaattagtt
     2281 ggagttaggt gtggtgcttt gatagatgtg taactttggt ggaatattaa ctaagcaaag
     2341 actacactga ccccacgatt catgtaactt tagtttctcc tgtgtgtaag gtcctgaaat
     2401 atgagacata aaaaatattg acggacctgg tgtttatttt ctttgttgat acgaggctta
     2461 gaaaacattg gacagagcgg ttacatagtt gacaaagact aagcaaaggt tactcagcct
     2521 tatgttgttc tagtgtcaac acagatagaa ggaaaaatgt ttcctccatt gttgctgacg
     2581 tagataaaga atattccctt caatatgcta acccctaggt ggcttttcat tcagaaggtt
     2641 cctaataatt tgatctttac cctgaaatca aacacatgga aaagagatgg aagaatgtcc
     2701 tggagggatt aagtgaagaa acagaccagg attcatttat gaaatatcct cggtgttatt
     2761 tcaattcagc tccattcaca ttttattctt ttgtgtctct gcactaatgc cctccatatt
     2821 ctccattctc ctgccttagc tagcaccttc tcgatcttcc ctctacaaaa ctccttcagt
     2881 tcacattgca tttgtgctct atcctgggat atgtgttttc tttcccattt cctcagttgc
     2941 tatgtattaa aaattag
//
LOCUS       NM_001001850            1149 bp    mRNA    linear   PRI 06-JUL-2023
DEFINITION  Homo sapiens syntaxin 19 (STX19), mRNA.
ACCESSION   NM_001001850
VERSION     NM_001001850.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1149)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1149)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1149)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam S,
            MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1149)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human genetic
            disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   5  (bases 1 to 1149)
  AUTHORS   Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M,
            Rodriguez M, Tam S, Wanamaker SA, Fan C, Yi S, Tasan M, Lemmens I,
            Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA,
            Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat
            J, Hill DE, Hao T, Vidal M and Iakoucheva LM.
  TITLE     Protein interaction network of alternatively spliced isoforms from
            brain links genetic risk factors for autism
  JOURNAL   Nat Commun 5, 3650 (2014)
   PUBMED   24722188
  REMARK    Erratum:[Nat Commun. 2023 Feb 2;14(1):569. PMID: 36732511]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1149)
  AUTHORS   Weimann M, Grossmann A, Woodsmith J, Ozkan Z, Birth P, Meierhofer D,
            Benlasfer N, Valovka T, Timmermann B, Wanker EE, Sauer S and Stelzl
            U.
  TITLE     A Y2H-seq approach defines the human protein methyltransferase
            interactome
  JOURNAL   Nat Methods 10 (4), 339-342 (2013)
   PUBMED   23455924
REFERENCE   7  (bases 1 to 1149)
  AUTHORS   Gordon DE, Bond LM, Sahlender DA and Peden AA.
  TITLE     A targeted siRNA screen to identify SNAREs required for constitutive
            secretion in mammalian cells
  JOURNAL   Traffic 11 (9), 1191-1204 (2010)
   PUBMED   20545907
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC034696.1, BG674749.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000315099.3/ ENSP00000320679.2
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC034696.1, AF461456.1 and AC117474.7.
            On Nov 23, 2018 this sequence version replaced NM_001001850.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1149
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     gene            1..1149
                     /gene="STX19"
                     /note="syntaxin 19"
                     /db_xref="GeneID:415117"
                     /db_xref="HGNC:HGNC:19300"
     misc_feature    155..157
                     /gene="STX19"
                     /note="upstream in-frame stop codon"
     CDS             245..1129
                     /gene="STX19"
                     /codon_start=1
                     /product="syntaxin-19"
                     /protein_id="NP_001001850.1"
                     /db_xref="CCDS:CCDS33793.1"
                     /db_xref="GeneID:415117"
                     /db_xref="HGNC:HGNC:19300"
                     /translation="MKDRLQELKQRTKEIELSRDSHVSTTETEEQGVFLQQAVIYEREP
                     VAERHLHEIQKLQESINNLADNVQKFGQQQKSLVASMRRFSLLKRESTITKEIKIQAEY
                     INRSLNDLVKEVKKSEVENGPSSVVTRILKSQHAAMFRHFQQIMFIYNDTIAAKQEKCK
                     TFILRQLEVAGKEMSEEDVNDMLHQGKWEVFNESLLTEINITKAQLSEIEQRHKELVNL
                     ENQIKDLRDLFIQISLLVEEQGESINNIEMTVNSTKEYVNNTKEKFGLAVKYKKRNPCR
                     VLCCWCCPCCSSK"
     regulatory      1125..1130
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STX19"
                     /note="hexamer: AATAAA"
     polyA_site      1149
                     /gene="STX19"
                     /note="major polyA site"
ORIGIN
        1 aatctatttt cacttgctat taacagcaaa cgtacaactt tatctcttat ttgacttcat
       61 tatttggctt tcaaattaac aacatgaaaa ctatacagaa attagtctgt gccctataag
      121 acagagattt agataatttg ttcaaaacat gagatgatat tcagatattc tctcaaaggc
      181 aggactccaa caccgcaggt ggaaaaccaa caaaaggaag aaaacagaaa ggaggaaagg
      241 gaagatgaaa gaccgacttc aagaactaaa gcagagaaca aaggaaattg aactctctag
      301 agacagtcat gtatcaacta cagaaacaga ggaacaaggg gtgtttctac agcaagctgt
      361 tatttatgaa agagagcctg tagctgagag acacctacat gaaatccaaa aactacagga
      421 aagtattaac aatttggcag ataatgttca aaaatttggg cagcaacaga aaagtctggt
      481 ggcttcaatg agaaggttta gtctacttaa gagagagtct accattacaa aggagataaa
      541 aattcaggca gaatacatca acagaagttt gaatgattta gttaaagaag ttaaaaagtc
      601 agaggttgaa aatggtccat cttcagtggt cacaaggata cttaaatctc agcatgctgc
      661 aatgttccgc cattttcagc aaatcatgtt tatatacaat gacacaatag cagcaaagca
      721 agagaagtgc aagacattta ttttacgtca gcttgaagtt gctggaaaag agatgtctga
      781 agaagatgta aatgatatgc ttcatcaagg aaaatgggaa gtttttaatg aaagcttact
      841 tacagaaatc aatatcacta aagcacaact ttcagagatt gaacagagac acaaggaact
      901 tgttaatttg gagaaccaaa taaaggattt aagggatctt ttcattcaga tatctctttt
      961 agtagaggaa caaggagaga gcatcaacaa tattgaaatg acagtgaata gtacaaaaga
     1021 gtatgttaac aatactaaag agaaatttgg actagctgta aaatacaaaa aaagaaatcc
     1081 ttgcagagta ctgtgttgtt ggtgctgtcc atgctgtagc tcaaaataaa gaagctattt
     1141 taaaacttt
//
LOCUS       NM_001001852            2102 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens Pim-3 proto-oncogene, serine/threonine kinase (PIM3),
            mRNA.
ACCESSION   NM_001001852
VERSION     NM_001001852.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2102)
  AUTHORS   Marayati R, Stafman LL, Williams AP, Bownes LV, Quinn CH, Markert
            HR, Easlick JL, Stewart JE, Crossman DK, Mroczek-Musulman E and
            Beierle EA.
  TITLE     CRISPR/Cas9-mediated knockout of PIM3 suppresses tumorigenesis and
            cancer cell stemness in human hepatoblastoma cells
  JOURNAL   Cancer Gene Ther 29 (5), 558-572 (2022)
   PUBMED   33864024
  REMARK    GeneRIF: CRISPR/Cas9-mediated knockout of PIM3 suppresses
            tumorigenesis and cancer cell stemness in human hepatoblastoma
            cells.
REFERENCE   2  (bases 1 to 2102)
  AUTHORS   Zhou Y, Zhou YN, Liu SX, Wang J, Ji R and Yan X.
  TITLE     Effects of PIM3 in prognosis of colon cancer
  JOURNAL   Clin Transl Oncol 23 (10), 2163-2170 (2021)
   PUBMED   33928496
  REMARK    GeneRIF: Effects of PIM3 in prognosis of colon cancer.
REFERENCE   3  (bases 1 to 2102)
  AUTHORS   Sugai A, Sato H, Yoneda M and Kai C.
  TITLE     PIM 3 kinase, a proto-oncogene product, regulates phosphorylation of
            the measles virus nucleoprotein tail domain at Ser 479 and Ser 510
  JOURNAL   Biochem Biophys Res Commun 531 (3), 267-274 (2020)
   PUBMED   32800554
  REMARK    GeneRIF: PIM 3 kinase, a proto-oncogene product, regulates
            phosphorylation of the measles virus nucleoprotein tail domain at
            Ser 479 and Ser 510.
REFERENCE   4  (bases 1 to 2102)
  AUTHORS   Motylewska E, Braun M and Stepien H.
  TITLE     High Expression of NEK2 and PIM1, but Not PIM3, Is Linked to an
            Aggressive Phenotype of Bronchopulmonary Neuroendocrine Neoplasms
  JOURNAL   Endocr Pathol 31 (3), 264-273 (2020)
   PUBMED   32504181
  REMARK    GeneRIF: High Expression of NEK2 and PIM1, but Not PIM3, Is Linked
            to an Aggressive Phenotype of Bronchopulmonary Neuroendocrine
            Neoplasms.
REFERENCE   5  (bases 1 to 2102)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
  REMARK    GeneRIF: Kinase Interaction Network Expands Functional and Disease
            Roles of Human Kinases.
REFERENCE   6  (bases 1 to 2102)
  AUTHORS   Fujii C, Nakamoto Y, Lu P, Tsuneyama K, Popivanova BK, Kaneko S and
            Mukaida N.
  TITLE     Aberrant expression of serine/threonine kinase Pim-3 in
            hepatocellular carcinoma development and its role in the
            proliferation of human hepatoma cell lines
  JOURNAL   Int J Cancer 114 (2), 209-218 (2005)
   PUBMED   15540201
  REMARK    GeneRIF: Aberrnntly expressed Pim-3 can cause autonomous cell
            proliferation or prevent apoptosis in hepatoma cell lines.
REFERENCE   7  (bases 1 to 2102)
  AUTHORS   Mikkers H, Nawijn M, Allen J, Brouwers C, Verhoeven E, Jonkers J and
            Berns A.
  TITLE     Mice deficient for all PIM kinases display reduced body size and
            impaired responses to hematopoietic growth factors
  JOURNAL   Mol Cell Biol 24 (13), 6104-6115 (2004)
   PUBMED   15199164
REFERENCE   8  (bases 1 to 2102)
  AUTHORS   Deneen B, Welford SM, Ho T, Hernandez F, Kurland I and Denny CT.
  TITLE     PIM3 proto-oncogene kinase is a common transcriptional target of
            divergent EWS/ETS oncoproteins
  JOURNAL   Mol Cell Biol 23 (11), 3897-3908 (2003)
   PUBMED   12748291
REFERENCE   9  (bases 1 to 2102)
  AUTHORS   Chichester C, Nikitin F, Ravarini JC and Lisacek F.
  TITLE     Consistency checks for characterizing protein forms
  JOURNAL   Comput Biol Chem 27 (1), 29-35 (2003)
   PUBMED   12798037
REFERENCE   10  (bases 1 to 2102)
  AUTHORS   Eichmann A, Yuan L, Breant C, Alitalo K and Koskinen PJ.
  TITLE     Developmental expression of pim kinases suggests functions also
            outside of the hematopoietic system
  JOURNAL   Oncogene 19 (9), 1215-1224 (2000)
   PUBMED   10713710
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB114795.1, SRR1163655.75044.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000360612.5/ ENSP00000353824.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB482257.1, AB114795.1, CT000425.1 and CR536608.3.
            On Nov 22, 2018 this sequence version replaced NM_001001852.3.
            Summary: The protein encoded by this gene belongs to the Ser/Thr
            protein kinase family, and PIM subfamily. This gene is
            overexpressed in hematological and epithelial tumors and is
            associated with MYC coexpression. It plays a role in the regulation
            of signal transduction cascades, contributing to both cell
            proliferation and survival, and provides a selective advantage in
            tumorigenesis. [provided by RefSeq, Jun 2012].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2102
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     gene            1..2102
                     /gene="PIM3"
                     /gene_synonym="pim-3"
                     /note="Pim-3 proto-oncogene, serine/threonine kinase"
                     /db_xref="GeneID:415116"
                     /db_xref="HGNC:HGNC:19310"
                     /db_xref="MIM:610580"
     CDS             177..1157
                     /gene="PIM3"
                     /gene_synonym="pim-3"
                     /EC_number="2.7.11.1"
                     /note="serine/threonine kinase Pim-3; pim-3 oncogene"
                     /codon_start=1
                     /product="serine/threonine-protein kinase pim-3"
                     /protein_id="NP_001001852.2"
                     /db_xref="CCDS:CCDS33678.1"
                     /db_xref="GeneID:415116"
                     /db_xref="HGNC:HGNC:19310"
                     /db_xref="MIM:610580"
                     /translation="MLLSKFGSLAHLCGPGGVDHLPVKILQPAKADKESFEKAYQVGAV
                     LGSGGFGTVYAGSRIADGLPVAVKHVVKERVTEWGSLGGATVPLEVVLLRKVGAAGGAR
                     GVIRLLDWFERPDGFLLVLERPEPAQDLFDFITERGALDEPLARRFFAQVLAAVRHCHS
                     CGVVHRDIKDENLLVDLRSGELKLIDFGSGALLKDTVYTDFDGTRVYSPPEWIRYHRYH
                     GRSATVWSLGVLLYDMVCGDIPFEQDEEILRGRLLFRRRVSPECQQLIRWCLSLRPSER
                     PSLDQIAAHPWMLGADGGVPESCDLRLCTLDPDDVASTTSSSESL"
     regulatory      2082..2087
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIM3"
                     /gene_synonym="pim-3"
                     /note="hexamer: ATTAAA"
     polyA_site      2102
                     /gene="PIM3"
                     /gene_synonym="pim-3"
                     /note="major polyA site"
ORIGIN
        1 gggtgaggcg ctccgcctgc tgcgcgtcta cgcggtcccc gcgggccttc cgggcccact
       61 gcgccgcgcg gaccgcctcg ggctcggacg gccggtgtcc ccggcgcgcc gctcgcccgg
      121 atcggccgcg gcttcggcgc ctggggctcg gggctccggg gaggccgtcg cccgcgatgc
      181 tgctctccaa gttcggctcc ctggcgcacc tctgcgggcc cggcggcgtg gaccacctcc
      241 cggtgaagat cctgcagcca gccaaggcgg acaaggagag cttcgagaag gcgtaccagg
      301 tgggcgccgt gctgggtagc ggcggcttcg gcacggtcta cgcgggtagc cgcatcgccg
      361 acgggctccc ggtggctgtg aagcacgtgg tgaaggagcg ggtgaccgag tggggcagcc
      421 tgggcggcgc gaccgtgccc ctggaggtgg tgctgctgcg caaggtgggc gcggcgggcg
      481 gcgcgcgcgg cgtcatccgc ctgctggact ggttcgagcg gcccgacggc ttcctgctgg
      541 tgctggagcg gcccgagccg gcgcaggacc tcttcgactt tatcacggag cgcggcgccc
      601 tggacgagcc gctggcgcgc cgcttcttcg cgcaggtgct ggccgccgtg cgccactgcc
      661 acagctgcgg ggtcgtgcac cgcgacatta aggacgaaaa tctgcttgtg gacctgcgct
      721 ccggagagct caagctcatc gacttcggtt cgggtgcgct gctcaaggac acggtctaca
      781 ccgacttcga cggcacccga gtgtacagcc ccccggagtg gatccgctac caccgctacc
      841 acgggcgctc ggccaccgtg tggtcgctgg gcgtgcttct ctacgatatg gtgtgtgggg
      901 acatcccctt cgagcaggac gaggagatcc tccgaggccg cctgctcttc cggaggaggg
      961 tctctccaga gtgccagcag ctgatccggt ggtgcctgtc cctgcggccc tcagagcggc
     1021 cgtcgctgga tcagattgcg gcccatccct ggatgctggg ggctgacggg ggcgtcccgg
     1081 agagctgtga cctgcggctg tgcaccctcg accctgatga cgtggccagc accacgtcca
     1141 gcagcgagag cttgtgagga gctgcacctg actgggagct aggggaccac ctgccttggc
     1201 cagacctggg acgcccccag accctgactt tctcctgcgt gggccgtctc ctcctgcgga
     1261 agcagtgacc tctgacccct ggtgaccttc gctttgagtg ccttttgaac gctggtcccg
     1321 cgggacttgg ttttctcaag ctctgtctgt ccaaagacgc tccggtcgag gtcccgcctg
     1381 ccctgggtgg atacttgaac cccagacgcc cctctgtgct gctgtgtccg gaggcggcct
     1441 tcccatctgc ctgcccaccc ggagctcttt ccgccggcgc agggtcccaa gcccacctcc
     1501 cgccctcagt cctgcggtgt gcgtctgggc acgtcctgca cacacaatgc aagtcctggc
     1561 ctccgcgccc gcccgcccac gcgagccgta cccgccgcca actctgttat ttatggtgtg
     1621 accccctgga ggtgccctcg gcccaccggg gctatttatt gtttaattta tttgttgagg
     1681 ttatttcctc tgagcagtct gcctctccca agccccaggg gacagtgggg aggcagggga
     1741 gggggtggct gtggtccagg gaccccaggc cctgattcct gtgcctggcg tctgtcccgg
     1801 ccccgcctgt cagaagatga acatgtatag tggctaactt aaggggagtg ggtgaccctg
     1861 acacttccag gcactgtgcc cagggtttgg gttttaaatt attgactttg tacagtctgc
     1921 ttgtgggctc tgaaagctgg ggtggggcca gagcctgagc gtttaattta ttcagtacct
     1981 gtgtttgtgt gaatgcggtg tgtgcaggca tcgcagatgg gggttctttc agttcaaaag
     2041 tgagatgtct ggagatcata tttttttata caggtatttc aattaaaatg tttttgtaca
     2101 ta
//
LOCUS       NM_001001872            6495 bp    mRNA    linear   PRI 17-SEP-2023
DEFINITION  Homo sapiens armadillo like helical domain containing 4 (ARMH4),
            transcript variant 1, mRNA.
ACCESSION   NM_001001872
VERSION     NM_001001872.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6495)
  AUTHORS   De Luca F, Kha M, Sward K and Johansson ME.
  TITLE     Identification of ARMH4 and WIPF3 as human podocyte proteins with
            potential roles in immunomodulation and cytoskeletal dynamics
  JOURNAL   PLoS One 18 (1), e0280270 (2023)
   PUBMED   36649229
  REMARK    GeneRIF: Identification of ARMH4 and WIPF3 as human podocyte
            proteins with potential roles in immunomodulation and cytoskeletal
            dynamics. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6495)
  AUTHORS   Lee,D., Wang,Y.H., Kalaitzidis,D., Ramachandran,J., Eda,H.,
            Sykes,D.B., Raje,N. and Scadden,D.T.
  TITLE     Endogenous transmembrane protein UT2 inhibits pSTAT3 and suppresses
            hematological malignancy
  JOURNAL   J Clin Invest 126 (4), 1300-1310 (2016)
   PUBMED   26927669
REFERENCE   3  (bases 1 to 6495)
  AUTHORS   Chung SA, Brown EE, Williams AH, Ramos PS, Berthier CC, Bhangale T,
            Alarcon-Riquelme ME, Behrens TW, Criswell LA, Graham DC, Demirci FY,
            Edberg JC, Gaffney PM, Harley JB, Jacob CO, Kamboh MI, Kelly JA,
            Manzi S, Moser-Sivils KL, Russell LP, Petri M, Tsao BP, Vyse TJ,
            Zidovetzki R, Kretzler M, Kimberly RP, Freedman BI, Graham RR and
            Langefeld CD.
  CONSRTM   International Consortium for Systemic Lupus Erythematosus Genetics
  TITLE     Lupus nephritis susceptibility loci in women with systemic lupus
            erythematosus
  JOURNAL   J Am Soc Nephrol 25 (12), 2859-2870 (2014)
   PUBMED   24925725
REFERENCE   4  (bases 1 to 6495)
  AUTHORS   Lee D, Sykes SM, Kalaitzidis D, Lane AA, Kfoury Y, Raaijmakers MH,
            Wang YH, Armstrong SA and Scadden DT.
  TITLE     Transmembrane Inhibitor of RICTOR/mTORC2 in Hematopoietic
            Progenitors
  JOURNAL   Stem Cell Reports 3 (5), 832-840 (2014)
   PUBMED   25418727
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.218271.1,
            SRR1803611.97866.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000267485.7/ ENSP00000267485.7
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK292513.1, BC013707.1, BC146861.1, BX161411.1 and AL049838.3.
            On May 17, 2019 this sequence version replaced NM_001001872.3.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
FEATURES             Location/Qualifiers
     source          1..6495
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.1"
     gene            1..6495
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="armadillo like helical domain containing 4"
                     /db_xref="GeneID:145407"
                     /db_xref="HGNC:HGNC:19846"
     misc_feature    127..129
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="upstream in-frame stop codon"
     CDS             196..2520
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; uncharacterized protein C14orf37; upstream of mTORC2;
                     upstream of mTORC2 protein; armadillo-like helical
                     domain-containing protein 4"
                     /codon_start=1
                     /product="armadillo-like helical domain-containing protein
                     4 isoform 1 precursor"
                     /protein_id="NP_001001872.2"
                     /db_xref="CCDS:CCDS32089.1"
                     /db_xref="GeneID:145407"
                     /db_xref="HGNC:HGNC:19846"
                     /translation="MRGPIVLHICLAFCSLLLFSVATQCLAFPKIERRREIAHVHAEKG
                     QSDKMNTDDLENSSVTSKQTPQLVVSEDPMMMSAVPSATSLNKAFSINKETQPGQAGLM
                     QTERPGVSTPTESGVPSAEEVFGSSQPERISPESGLAKAMLTIAITATPSLTVDEKEEL
                     LTSTNFQPIVEEITETTKGFLKYMDNQSFATESQEGVGLGHSPSSYVNTKEMLTTNPKT
                     EKFEADTDHRTTSFPGAESTAGSEPGSLTPDKEKPSQMTADNTQAAATKQPLETSEYTL
                     SVEPETDSLLGAPEVTVSVSTAVPAASALSDEWDDTKLESVSRIRTPKLGDNEETQVRT
                     EMSQTAQVSHEGMEGGQPWTEAAQVALGLPEGETHTGTALLIAHGNERSPAFTDQSSFT
                     PTSLMEDMKVSIVNLLQSTGDFTESTKENDALFFLETTVSVSVYESEADQLLGNTMKDI
                     ITQEMTTAVQEPDATLSMVTQEQVATLELIRDSGKTEEEKEDPSPVSDVPGVTQLSRRW
                     EPLATTISTTVVPLSFEVTPTVEEQMDTVTGPNEEFTPVLGSPVTPPGIMVGEPSISPA
                     LPALEASSERRTVVPSITRVNTAASYGLDQLESEEGQEDEDEEDEEDEDEEEEDEEEDE
                     EDKDADSLDEGLDGDTELPGFTLPGITSQEPGLEEGNMDLLEGATYQVPDALEWEQQNQ
                     GLVRSWMEKLKDKAGYMSGMLVPVGVGIAGALFILGALYSIKVMNRRRRNGFKRHKRKQ
                     REFNSMQDRVMLLADSSEDEF"
     sig_peptide     196..276
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    316..384
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TY3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    364..366
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q86TY3.1); glycosylation site"
     misc_feature    484..600
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TY3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    760..762
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q86TY3.1); glycosylation site"
     misc_feature    856..1020
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TY3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1993..2202
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TY3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2338..2400
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TY3.1);
                     transmembrane region"
     misc_feature    2500..2502
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q86TY3.1); phosphorylation site"
     misc_feature    2503..2505
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q86TY3.1); phosphorylation site"
     regulatory      3180..3185
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="hexamer: ATTAAA"
     polyA_site      3202
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="major polyA site"
     regulatory      3754..3759
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="hexamer: AATAAA"
     polyA_site      3783
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
     regulatory      4261..4266
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="hexamer: AATAAA"
     polyA_site      4292
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
     regulatory      6123..6128
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
                     /note="hexamer: AATAAA"
     polyA_site      6147
                     /gene="ARMH4"
                     /gene_synonym="C14orf37; c14_5376; UT2"
ORIGIN
        1 ctccccctag cgtcccagac agcggaggga gtcgccgccg ctaccgccgc cgccgccgca
       61 gggcccgccg ctgggatgcc gagcgcccgc gccgccgctg cctctgtcct ccgcgcgctg
      121 ctcagctgaa ggcgcacagg attcaattac tggacttgtc aactctgcca gtgtacgtgc
      181 catttctctt ccactatgag aggaccgatt gtattgcaca tttgtctggc tttctgtagc
      241 cttctgcttt tcagcgttgc cacacaatgt ctggccttcc ccaaaataga aaggaggagg
      301 gagatagcac atgttcatgc ggaaaaaggg cagtccgata agatgaacac cgatgaccta
      361 gaaaatagct ctgttacctc aaagcagact ccccaactgg tggtctctga agatccaatg
      421 atgatgtcag cagtaccatc ggcaacatca ttaaataaag cattctcgat taacaaagaa
      481 acccagcctg gacaagctgg gctcatgcaa acagaacgcc ctggtgtttc cacacctact
      541 gagtcaggtg tcccctcagc tgaagaagta tttggttcca gccagccaga gagaatatct
      601 cctgaaagtg gacttgccaa ggccatgtta accattgcta tcactgcgac tccttctctg
      661 actgttgatg aaaaggagga actccttaca agcactaact ttcagcccat tgtagaagag
      721 atcacagaaa ccacaaaagg ttttctgaag tatatggata atcaatcatt tgcaactgaa
      781 agtcaggaag gagttggttt gggacattca ccttcatcct atgtgaatac taaggaaatg
      841 ctaaccacca atccaaagac tgagaaattt gaagcagaca cagaccacag gacaacttct
      901 tttcctggtg ctgagtccac agcaggcagt gagcctggaa gcctcacccc tgataaggag
      961 aagccttcgc agatgacagc tgataacacc caggctgctg ccaccaagca accactcgaa
     1021 acttccgagt acaccctgag tgttgagcca gaaactgata gtctgctggg agccccagaa
     1081 gtcacagtga gtgtcagcac agctgttcca gctgcctctg ccttaagtga tgagtgggat
     1141 gacaccaaat tagagagtgt aagccggata aggaccccca agcttggaga caatgaagag
     1201 actcaggtga gaacggagat gtctcagaca gcacaagtaa gccatgaggg tatggaagga
     1261 ggccagcctt ggacagaggc tgcacaggtg gctctggggc tgcctgaagg ggaaacacac
     1321 acgggcacag ccctgctaat agcgcatggg aatgagagat cacctgcttt cactgatcaa
     1381 agttccttta cccccacaag tctgatggaa gacatgaaag tttccattgt gaacttgctc
     1441 caaagtacgg gagacttcac ggaatccacc aaggaaaacg atgccctgtt tttcttagaa
     1501 accactgttt ctgtctctgt atatgagtct gaggcagacc aactgttggg aaatacaatg
     1561 aaagacatca tcactcaaga gatgacaaca gctgttcaag agccagatgc cactttatcc
     1621 atggtgacac aagagcaggt tgctaccctc gagcttatca gagacagtgg caagactgag
     1681 gaagaaaagg aggacccctc tcctgtgtct gacgttcctg gtgttactca gctgtcaaga
     1741 agatgggagc ctctggccac tacaatttca actacagtcg tccctttgtc ttttgaagtt
     1801 actcccactg tggaagaaca aatggacaca gtcacagggc caaatgagga gttcacacca
     1861 gttctgggat ctccagtgac acctcctgga ataatggtgg gggaacccag catttcccct
     1921 gcacttcctg ctttggaggc atcctctgag agaagaactg ttgttccatc tattactcgt
     1981 gttaatacag ctgcctcata tggcctggac caacttgaat ctgaagaggg acaagaagat
     2041 gaggatgaag aggatgaaga agatgaagat gaagaagagg aagatgagga agaagatgag
     2101 gaagataaag atgcagactc gctggatgag ggcttggatg gtgacactga gctgccaggt
     2161 tttaccctcc ctggtatcac atcccaggaa ccaggcttag aggagggaaa catggacctg
     2221 ttggagggag ctacctacca ggtgccagat gccctcgagt gggaacagca gaatcaaggc
     2281 ctggtgagaa gctggatgga aaaattaaaa gacaaggctg gttacatgtc tgggatgctg
     2341 gtgcctgtag gggttgggat agctggagcc ttgttcatct tgggagccct ctacagcatt
     2401 aaggttatga atcgccgaag gagaaatggc ttcaaaaggc ataaaagaaa gcagagagaa
     2461 ttcaacagca tgcaagatcg agtaatgctc ttagccgaca gctctgaaga tgaattttga
     2521 attggactgg gttttaattg ggatattcaa cgatgctact attctaattt ttattttgga
     2581 gcagaaaaaa aaaaagaaca acctgccaca ttgctgctat caggccgtta gtcctagtgt
     2641 ctgctgggtg ctgggtagta gatttttctt gtactgagca gaaatggcat gttgtatact
     2701 aaacgtatca tgcagtattt ggttttattc tgtagtgaat tttccacaac cgtgggctac
     2761 aactcataaa tatgcaacat atatgttttt cagtaggagt tgctacatta ggcagagtaa
     2821 atattttgta gttttccaca gtgtcttttc cttggtttga attacctgca ttgagaataa
     2881 tgattgttgc caccaaggca tgcttgactc tgagatataa atcttaacaa agaataactt
     2941 ctcaagatat actctaccta cttgaaacca cagggttgtg ggccatggta catactgcat
     3001 ttgcatcaaa ctagcagtaa ctcagaatga aatcattttc attaagaagc tctctcagca
     3061 tattaggatt atatgtagat ttgtatgtat tttgcattat gtacttcagt ctcctagttt
     3121 tattattctc accttccgtt ttattcttgg cgaggaaaaa aatgcactag aaataataca
     3181 ttaaactgac tcttagtctt aatgtacgtt tgctgtctta aatagtgtga ttgagtccaa
     3241 cagactcaat catacatgtc atacatgttt atgattaaga gatattcttt ttgtgtgcta
     3301 gttgattttg ccgagaaaaa atgaagaaga attcaagaat gagatgaggg taggtaagct
     3361 ctcagagcat ttctgtctgc catttggttc tatgcttatg tggctgctaa tgtgactaat
     3421 tcagagtgtt gtatttccac atctgtggac tccaccatgg aaaaggtggg ctaccattgg
     3481 tccttatatg gctttattag aaaaatagac attctatcgt ttgtctgccc agtggccaga
     3541 gtcctggtga acaacagagc tcatgggaaa ccagcctctc tcagggcacc ccgctatgag
     3601 gatattgaaa tatgttcaat catttctcat ctcccttgga atgtaattcc ctgccctata
     3661 caaaatagga tattccaatg cgctatttga atctagggat tgaggatttg tagttgagtt
     3721 ttggggtaaa ggcttggctc attgccatgg aagaataaaa gttatttatt aatagtgctg
     3781 tcactgtgga gtacttgttg gtgtttatta gaagttgtct actatgttca agaaaagttg
     3841 cacagttatt cctcagagct actatgtgag gtaggacata tgtttttatt ctcccatttg
     3901 actgaagatg gaactgaagc agagaagtga aatgattttc caaagttgta cccagagaga
     3961 atcagcgtga gaacccactt ggacccagcc atgcaccctt atcttcagtt cagtaacctt
     4021 ttcatagact ttggtggaag cagtgacatt tcagggtcct tctttaaaac aaaggttcta
     4081 agggaatagc agggaatagc tgcctggtca aggaacgttt gatgtgaatt tccatctttg
     4141 ttaaatgaat gatgcctttc taatttctct cttactcaca cacaagttct ttccttcccc
     4201 atctcagtta tcagttattt cctttacagt catacatttg agtatcacct ctatggaact
     4261 aataaacctt cctagaatcc gtttttgaat aatgtctggc tcacaagaac attttcatca
     4321 aataatttta actctttttg ccaagagatg taagcaaata tgtgaaactg atcaagagaa
     4381 gtgaaaagct ctgtacagtc aaatagaagt tagcaactgg caaattagct caaggtcaga
     4441 ttttaaaaat agaattcaga atcatgacac tcagaagtga tttgtaattt cacgagtaga
     4501 gacatcctga tattgcataa gggatgtttt ccttttctaa gagcagccct ttgctgtaag
     4561 tgtttctaag gttgggagta agtgagcatg gtgtggcatt actgtctttg tattcttgac
     4621 aaactatttg ttgagaatac gtcgtaggcc acttaactga gtagcacatg ggtgatacta
     4681 gtggccatta ttgccttggg ctactcaatc tatagtctta actaaaccat ggctaatagg
     4741 ttgaatcttc aaactgtagt gtaataaatt cccaaataac agacccatat tttcatttct
     4801 cagaggtccg tgaggatgac atgtatgtga attttggctt aacacagtat ctctgtggtc
     4861 ctttttggga cacatgattt cttaaaggaa aagattatac ttagagtaca tttctgtaca
     4921 aacccattta aacatctgga ttgagtggaa ggtcggtgga tggtacaaat gacatgttta
     4981 ttttggccat tttccttgct gctggtggct gtggaataat gattttcagt ggttggctta
     5041 gattattaag aggatcagaa aaggttgtca tattttaaac aaaacctggg attagagatg
     5101 ctgctacgag atggaagtgc tggccagtgg ttatatagtg gtccagttga gaagtagtaa
     5161 atcaggcact tgtaggttta cccaaaataa gtgacaagta tgcttatatt tgcacaatta
     5221 aaatagaaag tcaacttttt attcaaacaa ctaggcttaa aacatttaac agtgaaacaa
     5281 ataaagctgt ctggaaagga gggctgattc ctgcagcttc agttgtgaac accatcccca
     5341 ctggactgag tttacccagc cagaactgcc agcatcccac cgcaggggca ggaactaggt
     5401 cttcttctcg gagggagagg cagtgtttcc agaatttgca ggctcataaa aatcacctgg
     5461 gacacttgtg aaacatacag atctcaaggc cttgccccag acctgatgag ttagaatctc
     5521 cagggaagga gcttggggta ttcatgcccc agcaagcttg ggaacacagc taggagggat
     5581 ctatctagag aaccacttcc ttatgataga gacaaggtca tttaaagtca caatgagata
     5641 ccacctcaca cctattggga tggctattat tcaataaaac aaaatataac aattgtttct
     5701 gaggatgtgg agaaattgga atccttgtat actgtgggtg ggaatgtaaa atggatagcc
     5761 actgtggaaa acagtatgaa gattcctcaa aaaattaaga tagaactact atataatcca
     5821 actatcccac ttctgggcat atatccaaaa gaatagaaat caggatcttg aagaagtatc
     5881 tgtacgcctg tgttcattgc ttatgcttat aagcatatta ttcacaataa gcttataagt
     5941 attattcaca atagccaaga tatggaaatt gcattgatag atatgcaaat atctatcaat
     6001 agatgaatgg ataaagaaaa tgtggtatat acatacagta gaatattatt cagccatagg
     6061 aaataaggaa attctgtcat tgtgacaata tggatataca tggagaacat tatgctaagt
     6121 gaaataaact agtgacagaa ggacaaatgc atgattgcac ttctttgagg tatccaaaat
     6181 aatcaaactc ataagggcag aggcaaaatg gtgcttgcca cgggctgggc aaagttaaag
     6241 gtggggagat gttgattaat tatgtttcag ttatgcaaga tgaataagtt ctagagctct
     6301 gctgtataac atagtgccta tagttaacaa tatcgtactg tgcagttaaa aatttgttaa
     6361 gagggccggg tgtggtggct cacgcctgta atcccagcac tttgggaggc caaggtgggc
     6421 agatcatgag gtcaggagat agaaaccatc ctggctaaca tggtgaaacc ccatctctac
     6481 taaaaataca aaaaa
//
LOCUS       NM_001001874            1504 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens TPD52 like 3 (TPD52L3), transcript variant 2, mRNA.
ACCESSION   NM_001001874
VERSION     NM_001001874.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1504)
  AUTHORS   Divaris K, Monda KL, North KE, Olshan AF, Lange EM, Moss K, Barros
            SP, Beck JD and Offenbacher S.
  TITLE     Genome-wide association study of periodontal pathogen colonization
  JOURNAL   J Dent Res 91 (7 Suppl), 21S-28S (2012)
   PUBMED   22699663
REFERENCE   2  (bases 1 to 1504)
  AUTHORS   Cao Q, Chen J, Zhu L, Liu Y, Zhou Z, Sha J, Wang S and Li J.
  TITLE     A testis-specific and testis developmentally regulated tumor protein
            D52 (TPD52)-like protein TPD52L3/hD55 interacts with TPD52 family
            proteins
  JOURNAL   Biochem Biophys Res Commun 344 (3), 798-806 (2006)
   PUBMED   16631610
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HM005710.1, SRR5189667.178235.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000314556.4/ ENSP00000318665.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133480.9.
            On Jun 2, 2019 this sequence version replaced NM_001001874.2.
            Summary: This gene encodes a member of the tumor protein D52-like
            family of proteins. These proteins are characterized by an
            N-terminal coiled-coil motif that is used to form homo- and
            heteromeric complexes with other tumor protein D52-like proteins.
            The encoded protein may play a role in spermatogenesis. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Oct 2009].
            Transcript Variant: This variant (2) has an alternate 3' coding
            region and 3' UTR, compared to variant 1. It encodes isoform 2
            which has a shorter and distinct C-terminus, compared to isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1504
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.1"
     gene            1..1504
                     /gene="TPD52L3"
                     /gene_synonym="D55; hD55; NYDSP25; TPD55"
                     /note="TPD52 like 3"
                     /db_xref="GeneID:89882"
                     /db_xref="HGNC:HGNC:23382"
                     /db_xref="MIM:617567"
     misc_feature    156..158
                     /gene="TPD52L3"
                     /gene_synonym="D55; hD55; NYDSP25; TPD55"
                     /note="upstream in-frame stop codon"
     CDS             222..632
                     /gene="TPD52L3"
                     /gene_synonym="D55; hD55; NYDSP25; TPD55"
                     /note="isoform 2 is encoded by transcript variant 2; tumor
                     protein D55; testis development protein NYD-SP25; protein
                     kinase NYD-SP25; testis tissue sperm-binding protein Li
                     87P; tumor protein D52 like 3"
                     /codon_start=1
                     /product="tumor protein D55 isoform 2"
                     /protein_id="NP_001001874.2"
                     /db_xref="CCDS:CCDS34984.1"
                     /db_xref="GeneID:89882"
                     /db_xref="HGNC:HGNC:23382"
                     /db_xref="MIM:617567"
                     /translation="MPHARTETSVGTYESHSTSELEDLTEPEQRELKTKLTKLEAEIVT
                     LRHVLAAKERRCGELKRKLGLTALVGLRQNLSKSWLDVQVSNTYVKQKTSAALSTMGTL
                     ICRKLGGVKKSATFRSFEGLIFNKYTLNQGRN"
     misc_feature    222..305
                     /gene="TPD52L3"
                     /gene_synonym="D55; hD55; NYDSP25; TPD55"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96J77.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1478..1483
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPD52L3"
                     /gene_synonym="D55; hD55; NYDSP25; TPD55"
                     /note="hexamer: AATAAA"
     polyA_site      1504
                     /gene="TPD52L3"
                     /gene_synonym="D55; hD55; NYDSP25; TPD55"
                     /note="major polyA site"
ORIGIN
        1 acaggccagg tcgtcaactc aactgtcaag gtgtccattg taccagctgg gccatggatc
       61 cctcccgcct gaaatctgac tccacctgcc aagagtctga gcctgcaggc ctagatttcg
      121 actctgctgg ccaagattat ttctctgcag cccaataatt cgactctttc taccaagaat
      181 tggacctgga ctctcttaac gaagatcttc tttcccagtc catgccacat gccaggacag
      241 agacctctgt gggcacatat gaatcccact cgacttctga actggaggat ctgacagagc
      301 ccgagcaaag agagctcaaa accaaactca ctaaattgga ggctgaaatt gtaaccctac
      361 gccacgtact agcagccaaa gagagacgct gtggggaact caagaggaag ttaggcctca
      421 ccgccttggt agggctgaga cagaatctgt ccaagagctg gcttgatgtt caggtctcca
      481 acacctatgt gaaacagaag acatcagctg ctctgtccac catgggcact ctcatctgca
      541 ggaagcttgg aggcgtgaag aagtcggcca cattcagatc ttttgaagga ttgatcttca
      601 ataaatacac gttaaatcaa ggaaggaatt aacatcatat acttcagaca tcaaatatgg
      661 aatccaagag actatcaaca acatgaactt gttcacaagt tccttctgct tttaaacaaa
      721 aatatcgtgt ttattcaaag ccaatctgag accctactct gtatcaagaa ctgtcccagg
      781 ttctgaaagc atagaattag acatcgtatg tgccctctag aaacacttag actttcaaat
      841 cattataatt caatgagtcc taaaatagag ctgtgtgcca gagataaaag aagtcctgag
      901 gaaggggtgt tcaactctgt cttggtaggt cagtaaagac tttagagaga cagaaagtct
      961 tagaggacta ggagaagttt gccagacaga caagaataga acattccaga caacatgcag
     1021 aggaactgag tcacaaagga atgtataaga atggcatatt ctaggaacta acactgtggc
     1081 tagagaggaa ggggaaatgg tgttacatga gtgagggagg ggaaatggtg ttacgtgagt
     1141 aagaaaaaat aagcaggggg caaaatcata agtagtctta catactacat tagatatcaa
     1201 tatttaagcc tgtaggaaat gggaggcatt gaagcactta agtaaaaaag taactatcaa
     1261 atttttgttt tagattactc tggtcatcag agaaatagat taagtattta agaggtagaa
     1321 tctctcagac ttaggaacca actgcatgag gcggggcttg gggggataaa tttgcaagat
     1381 aataaggatg tagaattgaa aaggcctgat attattgaag ctggagttgc acattcattt
     1441 tgctttggct tttttgtatc agtggtcatg ggcaccaaat aaaatgcttc catgaacatt
     1501 tgga
//
LOCUS       NM_001001888            1175 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens variable charge X-linked 3B (VCX3B), mRNA.
ACCESSION   NM_001001888
VERSION     NM_001001888.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1175)
  AUTHORS   Need AC, Attix DK, McEvoy JM, Cirulli ET, Linney KL, Hunt P, Ge D,
            Heinzen EL, Maia JM, Shianna KV, Weale ME, Cherkas LF, Clement G,
            Spector TD, Gibson G and Goldstein DB.
  TITLE     A genome-wide study of common SNPs and CNVs in cognitive performance
            in the CANTAB
  JOURNAL   Hum Mol Genet 18 (23), 4650-4661 (2009)
   PUBMED   19734545
REFERENCE   2  (bases 1 to 1175)
  AUTHORS   Jiao X, Chen H, Chen J, Herrup K, Firestein BL and Kiledjian M.
  TITLE     Modulation of neuritogenesis by a protein implicated in X-linked
            mental retardation
  JOURNAL   J Neurosci 29 (40), 12419-12427 (2009)
   PUBMED   19812318
REFERENCE   3  (bases 1 to 1175)
  AUTHORS   Cuevas-Covarrubias SA and Gonzalez-Huerta LM.
  TITLE     Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene
            deletion is not sufficient to result in mental retardation in
            X-linked ichthyosis
  JOURNAL   Br J Dermatol 158 (3), 483-486 (2008)
   PUBMED   18076704
REFERENCE   4  (bases 1 to 1175)
  AUTHORS   Hansen MA, Nielsen JE, Retelska D, Larsen N and Leffers H.
  TITLE     A shared promoter region suggests a common ancestor for the human
            VCX/Y, SPANX, and CSAG gene families and the murine CYPT family
  JOURNAL   Mol Reprod Dev 75 (2), 219-229 (2008)
   PUBMED   17342728
REFERENCE   5  (bases 1 to 1175)
  AUTHORS   Chocholska S, Rossier E, Barbi G and Kehrer-Sawatzki H.
  TITLE     Molecular cytogenetic analysis of a familial interstitial deletion
            Xp22.2-22.3 with a highly variable phenotype in female carriers
  JOURNAL   Am J Med Genet A 140 (6), 604-610 (2006)
   PUBMED   16470742
REFERENCE   6  (bases 1 to 1175)
  AUTHORS   Van Esch H, Hollanders K, Badisco L, Melotte C, Van Hummelen P,
            Vermeesch JR, Devriendt K, Fryns JP, Marynen P and Froyen G.
  TITLE     Deletion of VCX-A due to NAHR plays a major role in the occurrence
            of mental retardation in patients with X-linked ichthyosis
  JOURNAL   Hum Mol Genet 14 (13), 1795-1803 (2005)
   PUBMED   15888481
REFERENCE   7  (bases 1 to 1175)
  AUTHORS   Zou SW, Zhang JC, Zhang XD, Miao SY, Zong SD, Sheng Q and Wang LF.
  TITLE     Expression and localization of VCX/Y proteins and their possible
            involvement in regulation of ribosome assembly during
            spermatogenesis
  JOURNAL   Cell Res 13 (3), 171-177 (2003)
   PUBMED   12862317
REFERENCE   8  (bases 1 to 1175)
  AUTHORS   Balaresque P, Toupance B, Heyer E and Crouau-Roy B.
  TITLE     Evolutionary dynamics of duplicated microsatellites shared by sex
            chromosomes
  JOURNAL   J Mol Evol 57 Suppl 1, S128-S137 (2003)
   PUBMED   15008409
REFERENCE   9  (bases 1 to 1175)
  AUTHORS   Fukami M, Kirsch S, Schiller S, Richter A, Benes V, Franco B, Muroya
            K, Rao E, Merker S, Niesler B, Ballabio A, Ansorge W, Ogata T and
            Rappold GA.
  TITLE     A member of a gene family on Xp22.3, VCX-A, is deleted in patients
            with X-linked nonspecific mental retardation
  JOURNAL   Am J Hum Genet 67 (3), 563-573 (2000)
   PUBMED   10903929
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: ERR279864.2365.1, HY028987.1 [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA2159080,
            SAMEA2161674 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381032.6/ ENSP00000370420.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF167080.2, BC098143.1,
            AC006062.5 and AA883225.1.
            On May 17, 2019 this sequence version replaced NM_001001888.3.
            Summary: This gene belongs to the VCX/Y gene family, which has
            multiple members on both X and Y chromosomes, and all are expressed
            exclusively in male germ cells. The X-linked members are clustered
            on chromosome Xp22, and the Y-linked members are two identical
            copies of the gene within a palindromic region on chromosome Yq11.
            The family members share a high degree of sequence identity, with
            the exception that a 30-nt unit is tandemly repeated in X-linked
            members but occurs only once in Y-linked members. The VCX gene
            cluster is polymorphic in terms of copy number; different
            individuals may have a different number of VCX genes. This family
            member, as represented by the reference genome allele, contains 14
            copies of the 30-nt repeat unit. VCX/Y genes encode small and
            highly charged proteins containing putative bipartite nuclear
            localization signals. Although the exact function of this family
            member has yet to be determined, a role in mRNA stability
            regulation can be inferred from the ability of the highly similar
            family member, VCX-A, to inhibit mRNA decapping. A possible role in
            the regulation of ribosome assembly during spermatogenesis has also
            been suggested. [provided by RefSeq, Aug 2010].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1175
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.31"
     gene            1..1175
                     /gene="VCX3B"
                     /gene_synonym="VCX-C; VCXC"
                     /note="variable charge X-linked 3B"
                     /db_xref="GeneID:425054"
                     /db_xref="HGNC:HGNC:31838"
                     /db_xref="MIM:300981"
     misc_feature    179..181
                     /gene="VCX3B"
                     /gene_synonym="VCX-C; VCXC"
                     /note="upstream in-frame stop codon"
     CDS             308..1048
                     /gene="VCX3B"
                     /gene_synonym="VCX-C; VCXC"
                     /note="variably charged protein X-C"
                     /codon_start=1
                     /product="variable charge X-linked protein 3B"
                     /protein_id="NP_001001888.3"
                     /db_xref="CCDS:CCDS48077.2"
                     /db_xref="GeneID:425054"
                     /db_xref="HGNC:HGNC:31838"
                     /db_xref="MIM:300981"
                     /translation="MSPKPRASGPPAKAKEAGKRKSSSQPSPSDPKKKTTKVAKKGKAV
                     RRGRRGKKGAATKMAAVTAPEAESGPAAPGPSDQPSQELPQHELPPEEPVSEGTQHDPL
                     SQESELEEPLSQESEVEEPLSQESQVEEPLSQESEVEEPLSQESQVEEPLSQESEVEEP
                     LSQESEVEEPLSQESQVEEPLSQESEVEEPLSQESQVEEPLSQESEMEEPLSQESQVEE
                     PLSQESEMEEPLSQESEMEELPSV"
     misc_feature    308..1045
                     /gene="VCX3B"
                     /gene_synonym="VCX-C; VCXC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H321.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    617..1036
                     /gene="VCX3B"
                     /gene_synonym="VCX-C; VCXC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H321.4);
                     Region: 14 X 10 AA tandem repeats of
                     L-S-Q-E-S-[EQ]-V-E-E-P"
     regulatory      1155..1160
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VCX3B"
                     /gene_synonym="VCX-C; VCXC"
                     /note="hexamer: AATGAA"
     polyA_site      1175
                     /gene="VCX3B"
                     /gene_synonym="VCX-C; VCXC"
                     /note="major polyA site"
ORIGIN
        1 atgtggatgc tgggagaagt atgtgagatg gaaaagttgt ttcatggcat ccaagaagtg
       61 aatgatcctc aaggtgtagc agaggaattt gtaggagaga gggatgattg acatcttcgt
      121 gtagccctcc atccatccca gttagcatgg agggatttta gggctaccat tggctgggta
      181 gtggagtgtt gaccaatcac agctcagggg cgtgattgtc tcgtcctggg atcgcgagag
      241 gtgtatatac agggaggcca ggcagcctgg agttagtcga ccgttgcgag acgttgagct
      301 gcggaagatg agtccaaagc cgagagcctc gggacctccg gccaaggcca aggaggcagg
      361 aaagaggaag tcctcctctc agccgagccc cagtgacccg aagaagaaga ctaccaaggt
      421 ggccaagaag ggaaaagcag ttcgtagagg gagacgcggg aagaaagggg ctgcgacaaa
      481 gatggcggcc gtgacggcac ctgaggcgga gagcgggcca gcggcacccg gccccagcga
      541 ccagcccagc caggagctcc ctcagcacga gctgccgccg gaggagccag tgagcgaggg
      601 gacccagcac gaccccctga gtcaggagag cgagctggag gaaccactga gtcaggagag
      661 cgaggtggaa gaaccactga gtcaggagag ccaggtggag gaaccactga gtcaggagag
      721 cgaggtggaa gaaccactga gtcaggagag ccaggtggag gaaccactga gtcaggagag
      781 cgaggtggag gaaccactga gtcaggagag cgaggtggaa gaaccactga gtcaggagag
      841 ccaggtggag gaaccactga gtcaggagag cgaggtggaa gaaccactga gtcaggagag
      901 ccaggtggag gaaccactga gtcaggagag cgagatggaa gaaccactga gtcaggagag
      961 ccaggtggag gaaccactga gtcaggagag cgagatggaa gaaccactga gtcaggagag
     1021 cgagatggaa gaactaccga gtgtgtagac ggccaagtac tcccctatct ccgagagcag
     1081 cgactaagtt caggcccagc cgccagacct cagagatctc accagcgggg tgcttgccat
     1141 tctgatgata ataaaatgaa tgtgttgcaa attga
//
LOCUS       NM_001001912            2855 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily E member 2
            (OR4E2), mRNA.
ACCESSION   NM_001001912
VERSION     NM_001001912.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2855)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 2855)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
REFERENCE   3  (bases 1 to 2855)
  AUTHORS   Boysen C, Simon MI and Hood L.
  TITLE     Analysis of the 1.1-Mb human alpha/delta T-cell receptor locus with
            bacterial artificial chromosome clones
  JOURNAL   Genome Res 7 (4), 330-338 (1997)
   PUBMED   9110172
REFERENCE   4  (bases 1 to 2855)
  AUTHORS   Koop BF, Rowen L, Wang K, Kuo CL, Seto D, Lenstra JA, Howard S, Shan
            W, Deshpande P and Hood L.
  TITLE     The human T-cell receptor TCRAC/TCRDC (C alpha/C delta) region:
            organization, sequence, and evolution of 97.6 kb of DNA
  JOURNAL   Genomics 19 (3), 478-493 (1994)
   PUBMED   8188290
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641524.1/ ENSP00000493386.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC243972.3.
            On Aug 4, 2020 this sequence version replaced NM_001001912.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2855
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..2855
                     /gene="OR4E2"
                     /gene_synonym="OR14-42"
                     /note="olfactory receptor family 4 subfamily E member 2"
                     /db_xref="GeneID:26686"
                     /db_xref="HGNC:HGNC:8297"
     misc_feature    293..295
                     /gene="OR4E2"
                     /gene_synonym="OR14-42"
                     /note="upstream in-frame stop codon"
     CDS             296..1237
                     /gene="OR4E2"
                     /gene_synonym="OR14-42"
                     /note="olfactory receptor OR14-42"
                     /codon_start=1
                     /product="olfactory receptor 4E2"
                     /protein_id="NP_001001912.2"
                     /db_xref="CCDS:CCDS41916.1"
                     /db_xref="GeneID:26686"
                     /db_xref="HGNC:HGNC:8297"
                     /translation="MDSLNQTRVTEFVFLGLTDNRVLEMLFFMAFSAIYMLTLSGNILI
                     IIATVFTPSLHTPMYFFLSNLSFIDICHSSVTVPKMLEGLLLERKTISFDNCITQLFFL
                     HLFACAEIFLLIIMAYDRYVAICTPLHYPNVMNMRVCIQLVFALWLGGTVHSLGQTFLT
                     IRLPYCGPNIIDSYFCDVPLVIKLACTDTYLTGILIVTNSGTISLSCFLAVVTSYMVIL
                     VSLRKHSAEGRRKALSTCSAHFMVVALFFGPCIFIYTRPDTSFSIDKVVSVFYTVVTPL
                     LNPFIYTLRNEEVKSAMKQLRQRQVFFTKSYT"
     misc_feature    308..310
                     /gene="OR4E2"
                     /gene_synonym="OR14-42"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGC2.1); glycosylation site"
     misc_feature    371..442
                     /gene="OR4E2"
                     /gene_synonym="OR14-42"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC2.1);
                     transmembrane region"
     misc_feature    467..532
                     /gene="OR4E2"
                     /gene_synonym="OR14-42"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC2.1);
                     transmembrane region"
     misc_feature    596..655
                     /gene="OR4E2"
                     /gene_synonym="OR14-42"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC2.1);
                     transmembrane region"
     misc_feature    713..769
                     /gene="OR4E2"
                     /gene_synonym="OR14-42"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC2.1);
                     transmembrane region"
     misc_feature    881..952
                     /gene="OR4E2"
                     /gene_synonym="OR14-42"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC2.1);
                     transmembrane region"
     misc_feature    1001..1069
                     /gene="OR4E2"
                     /gene_synonym="OR14-42"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC2.1);
                     transmembrane region"
     misc_feature    1103..1162
                     /gene="OR4E2"
                     /gene_synonym="OR14-42"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC2.1);
                     transmembrane region"
ORIGIN
        1 aatttaccct gtgcagaatt ttgagtttca tgattttata tcctaggctt ctataatagg
       61 gtatcagagg cgaatggaat cattagagga gatacagagt agatgaaaca attatgagaa
      121 aagtgaatga aataacatta tagtaacttt ataacaatta gctaaagcat ccctgcacaa
      181 ctggagaaaa ctgatggcat ctcgctgtgc tgcctaggca gaccttgaac ttctggactt
      241 aagcgataga tcctccacct cagcctcttg agtatttggg actacagctc attgaatgga
      301 cagtctaaac caaacaagag tgactgaatt tgtcttcttg ggactcactg ataaccgggt
      361 gctggaaatg ctgtttttca tggcattctc agccatttat atgctaacgc tttcggggaa
      421 cattctcatc atcattgcca cagtctttac tccaagtctc cataccccca tgtatttctt
      481 cctgagcaat ctgtccttta ttgacatctg ccactcatct gtcactgtgc ctaagatgtt
      541 ggagggtttg cttttagaaa gaaagaccat ttcctttgac aactgcatca cacagctctt
      601 cttcctacat ctctttgcct gtgccgagat ctttctgctg atcattatgg cgtatgatcg
      661 ttacgtggct atctgcactc cactccacta ccccaatgtg atgaacatga gagtctgtat
      721 acagcttgtc tttgctctct ggttgggggg tactgttcac tcactagggc agaccttctt
      781 gactattcgt ctaccttact gtggccccaa cattattgac agctacttct gtgatgtgcc
      841 tcttgttatc aagctggcct gcacagatac atacctcaca ggaatactga ttgtgaccaa
      901 tagtggaacc atctccctct cctgtttctt ggccgtggtc acctcctata tggtcatcct
      961 ggtttctctt cgaaaacact cagctgaagg gcgccggaaa gccctgtcta cctgctcggc
     1021 ccacttcatg gtggttgccc tcttctttgg gccatgtatc ttcatctata ctcggccaga
     1081 caccagcttc tccattgaca aggtggtgtc tgtcttctac acagtggtca cccctttgct
     1141 gaatcccttc atttacacct tgaggaatga ggaggtaaaa agtgccatga agcagctcag
     1201 gcagagacaa gtttttttca cgaaatcata tacataatgg gcactgggat tgcagacata
     1261 attgcagcca catccttaat gaaagagcaa aagtaaagag tcaaaatcaa cttatataac
     1321 ttggtaaatt aggtaaaatg gcatagagca ggtcagattt ctgctcatta aagataagaa
     1381 cttattctgt tcattaaaga taagaactta ttaactatta tttaaataaa gcaaaagatc
     1441 atagtggaag ttataaggaa aaataacgtg ggaaagttta aagacagctt ttgatttcat
     1501 cagtaaaaga atacaatttg gggaactcag ttcagtctca gtttcaggag caggtagagt
     1561 gagaattgac tctcttgatt tatactgttc tgtgggctat tgcctctggg aagctataca
     1621 tcactcctgt gatttataca ttatagtagt ttcaatcttg ttttccaata tattttcaag
     1681 tgtataaata agcctttact tatttatatt gaattaaact tttgttgctt ttgaatgtaa
     1741 ttctctcatg tctagatcta ttttgtactt tttttttgag acaggaattt tttgtactat
     1801 tcctgcaact tcctgtaagt ctgaaattat tgtcaaaata aaaagttaaa acaaaacaaa
     1861 actatacacc cacaagaata gtaaaaatta aaaaggtaga aaataccaag tggttttttt
     1921 tttttttttc ctaattactc tgtcgcccag gctggagtgc agtggcgcca tcttagctca
     1981 ctgcaacttc cacctccagg tttaagtgat tctcctgcct cagcctcctg aatagctggg
     2041 actataggtg catgccatca tgcctggcta atttttatat gtttagtaga gatgaggttt
     2101 taccacgttg gccaggctgg tctcaaaact cctgagttca agccacctgc ccctctcagc
     2161 taatcattaa ctactatcac tcattgggct gaagtatatc agtttattgt ggaatgggca
     2221 agtccatatg aagagggatc catgacaaat ttcttaggta atgatgatga tattctgtga
     2281 ctgaaataag taggattagc tgtaaatgaa gatcctatag atggtcagag agctaccata
     2341 caatatcaac tttaatggag ctgatggaat gaaatgaaat atggttaata ataaaaatat
     2401 taagtataaa tatgtttctt tgcttattct gaaaaaaatt tataattgat tggggtcttt
     2461 gtcactattt tccacatggt ctgtcaactt atagaaataa tacttgagta ttctggagaa
     2521 ctggagagca gacaacatag ccatccacac attacagaca tacacaatac agagtgagtg
     2581 acccactaac tctaactaaa gagtaataca tgattacctt ttagtaatca aaaggacaaa
     2641 gaatcagaag cagtctattc attaaactga gagatgctca tgaaaatatc taaatatcat
     2701 tacttcaagt tgacaaacaa gggtagaaaa tggtcagtcc cctataattc tcatataaaa
     2761 cttgagtcat agtaagagtt ttagatatct atgatgaaat gaagtccaga tatcactact
     2821 atgtacatgt taaaaactta gaaaaatgat ctaat
//
LOCUS       NM_001001913            2545 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily N member 1
            (OR52N1), mRNA.
ACCESSION   NM_001001913
VERSION     NM_001001913.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2545)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641645.1/ ENSP00000493272.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131574.4.
            On Aug 6, 2020 this sequence version replaced NM_001001913.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2545
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..2545
                     /gene="OR52N1"
                     /gene_synonym="OR11-61"
                     /note="olfactory receptor family 52 subfamily N member 1"
                     /db_xref="GeneID:79473"
                     /db_xref="HGNC:HGNC:14853"
     misc_feature    167..169
                     /gene="OR52N1"
                     /gene_synonym="OR11-61"
                     /note="upstream in-frame stop codon"
     CDS             200..1162
                     /gene="OR52N1"
                     /gene_synonym="OR11-61"
                     /note="olfactory receptor OR11-61"
                     /codon_start=1
                     /product="olfactory receptor 52N1"
                     /protein_id="NP_001001913.1"
                     /db_xref="CCDS:CCDS31398.1"
                     /db_xref="GeneID:79473"
                     /db_xref="HGNC:HGNC:14853"
                     /translation="MSFLNGTSLTPASFILNGIPGLEDVHLWISFPLCTMYSIAITGNF
                     GLMYLIYCDEALHRPMYVFLALLSFTDVLMCTSTLPNTLFILWFNLKEIDFKACLAQMF
                     FVHTFTGMESGVLMLMALDHCVAICFPLRYATILTNSVIAKAGFLTFLRGVMLVIPSTF
                     LTKRLPYCKGNVIPHTYCDHMSVAKISCGNVRVNAIYGLIVALLIGGFDILCITISYTM
                     ILQAVVSLSSADARQKAFSTCTAHFCAIVLTYVPAFFTFFTHHFGGHTIPLHIHIIMAN
                     LYLLMPPTMNPIVYGVKTRQVRESVIRFFLKGKDNSHNF"
     misc_feature    212..214
                     /gene="OR52N1"
                     /gene_synonym="OR11-61"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH53.1); glycosylation site"
     misc_feature    281..343
                     /gene="OR52N1"
                     /gene_synonym="OR11-61"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH53.1);
                     transmembrane region"
     misc_feature    368..430
                     /gene="OR52N1"
                     /gene_synonym="OR11-61"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH53.1);
                     transmembrane region"
     misc_feature    503..565
                     /gene="OR52N1"
                     /gene_synonym="OR11-61"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH53.1);
                     transmembrane region"
     misc_feature    623..685
                     /gene="OR52N1"
                     /gene_synonym="OR11-61"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH53.1);
                     transmembrane region"
     misc_feature    794..856
                     /gene="OR52N1"
                     /gene_synonym="OR11-61"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH53.1);
                     transmembrane region"
     misc_feature    917..979
                     /gene="OR52N1"
                     /gene_synonym="OR11-61"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH53.1);
                     transmembrane region"
     misc_feature    1028..1090
                     /gene="OR52N1"
                     /gene_synonym="OR11-61"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH53.1);
                     transmembrane region"
ORIGIN
        1 agataataga aatgttccct cctccacttg cctcccaagg tctcaatgta ggtattatat
       61 ttctccttca ggaccaagag gatcatatag acataaatat gacttgatcc atggataggt
      121 cttcagtttc ttgaggaact ccggtagttt tcaggaggca atgctataac tgctatacaa
      181 tgaacttcca acagtcatta tgtcatttct aaatggcacc agcctaactc cagcttcatt
      241 catcctaaat ggcatccctg gtttggaaga tgtgcatttg tggatctcct tcccactgtg
      301 taccatgtac agcattgcta ttacagggaa cttcggcctt atgtacctca tctactgtga
      361 tgaggcctta cacagaccta tgtatgtctt ccttgccctt ctttccttca cagatgtgct
      421 catgtgcacc agcacccttc ccaacactct cttcatattg tggtttaatc tcaaggagat
      481 tgattttaaa gcctgcctcg cccagatgtt ctttgtgcac accttcacag ggatggagtc
      541 tggggtgctc atgctcatgg ccctggacca ctgtgtggcc atctgcttcc ctctgcgtta
      601 tgccaccatc ctcactaatt cagtcattgc taaagctggg ttcctcactt ttcttagggg
      661 tgtgatgctt gttatccctt ccactttcct caccaagcgc cttccatact gcaagggcaa
      721 cgtcataccc cacacctact gtgaccacat gtctgtggcc aagatatctt gtggtaatgt
      781 cagggttaac gccatctatg gtttgatagt tgccctgctg attgggggct ttgatatcct
      841 gtgcattaca atctcctaca ctatgattct tcaagcagtt gtgagtctat catcagcaga
      901 tgctcgacag aaggccttca gcacctgcac tgcccacttc tgtgccatag tcctcaccta
      961 tgttccagcc ttctttacct tctttacaca ccattttggg ggacacacca ttcctctaca
     1021 catacatatt attatggcta atctctacct actaatgcct cccacaatga accctattgt
     1081 gtatggggtg aaaaccaggc aggtacgaga aagtgtcatt aggttctttc ttaagggaaa
     1141 ggacaattct cataactttt aaagtcttct gagatgttag aattttctta gccaggttga
     1201 gatcaccaag tcaataggga gctctttaaa tgacaccaga aatctggcca caggaatatt
     1261 tttatgatac tcggattact ctacatcttt ggaaagggta ccatcatgtt caaataggta
     1321 aataccctct cttatgttat tccatgttct ttaaagcctt tttactatag aggacttcga
     1381 agttcactgc atttaatctt cacagacatc atcttctctc ctaaatgaca gtctacacaa
     1441 atttgcagca cagtggttgg atcactaaca ctggagtgaa actttttaaa aaatttaaat
     1501 ctctggcaaa acatgagccg tgttcattta tgtctgtcct aacttactta gctcatcatt
     1561 ttcctgccaa aatcacttag agtttattct gcttctatcc caagtttgcc agctgtatat
     1621 ctatccagta gcaacccata catatgttaa ccagaaaact tctaaagttg taaattgaag
     1681 catgcctgta atacccagaa gctggcaatc acaccaatgt ccatcaacat tagacaacat
     1741 aaataaataa ttgtggtcta ttcaaatata gtattaggtg aaagagataa aaacacatat
     1801 tatatattgt cattgatgta cagttcagaa gtaggccaaa ctaactgaga taatgtttaa
     1861 ctttgagaat gagaaaccag gtaatgaggg ggatgcttct gaggtaccac cgttgattag
     1921 ttcttgacct ggatggtagt tgcagggtgt atcaacttag tgatatttca tgagcctatt
     1981 atttgtaata tctgctcttt ttgcctgtgt actatgcttc aacattttta tttaaaataa
     2041 tatgtcttga gcacatactc tcacctccct aagctgtgag acatttcttt cttgcttcct
     2101 atgaaaactg tctatagttt acaaagtata tatactttct tttctttcag aagtatgtta
     2161 actttagcat aaataatatg tgcatattta tacaaatcat aataaaacaa caaagacaac
     2221 atcatcataa aaaaattaaa ctttcctttt gaaaatgtcc tccatctagt ccctttttag
     2281 tgatggcctc ttaaaaatat tgtttgtgta gcaaagactt ggaaccaacc caaatgttca
     2341 acaatgatag actggataaa gaaaatgtgg cacatataca ccatggaata ctatgcagcc
     2401 ataaaaaagg atgagctcat gtcctttgta gggacatgga tgaagctgga aaccatcatt
     2461 ctcagcaaac tatcgcaagg acaaaaaacc aaacactgca tgttctcact cataggtggg
     2521 aattgaacaa tgagaacact tggac
//
LOCUS       NM_001001914             930 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily G member 3
            (OR2G3), mRNA.
ACCESSION   NM_001001914
VERSION     NM_001001914.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 930)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136712.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000320002.3/ ENSP00000326301.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL606804.11.
            On Aug 30, 2004 this sequence version replaced XM_377633.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..930
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..930
                     /gene="OR2G3"
                     /gene_synonym="OR1-33"
                     /note="olfactory receptor family 2 subfamily G member 3"
                     /db_xref="GeneID:81469"
                     /db_xref="HGNC:HGNC:15008"
     CDS             1..930
                     /gene="OR2G3"
                     /gene_synonym="OR1-33"
                     /note="olfactory receptor OR1-33"
                     /codon_start=1
                     /product="olfactory receptor 2G3"
                     /protein_id="NP_001001914.1"
                     /db_xref="CCDS:CCDS31093.1"
                     /db_xref="GeneID:81469"
                     /db_xref="HGNC:HGNC:15008"
                     /translation="MGLGNESSLMDFILLGFSDHPRLEAVLFVFVLFFYLLTLVGNFTI
                     IIISYLDPPLHTPMYFFLSNLSLLDICFTTSLAPQTLVNLQRPKKTITYGGCVAQLYIS
                     LALGSTECILLADMALDRYIAVCKPLHYVVIMNPRLCQQLASISWLSGLASSLIHATFT
                     LQLPLCGNHRLDHFICEVPALLKLACVDTTVNELVLFVVSVLFVVIPPALISISYGFIT
                     QAVLRIKSVEARHKAFSTCSSHLTVVIIFYGTIIYVYLQPSDSYAQDQGKFISLFYTMV
                     TPTLNPIIYTLRNKDMKEALRKLLSGKL"
     misc_feature    13..15
                     /gene="OR2G3"
                     /gene_synonym="OR1-33"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGZ4.1); glycosylation site"
     misc_feature    76..147
                     /gene="OR2G3"
                     /gene_synonym="OR1-33"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ4.1);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR2G3"
                     /gene_synonym="OR1-33"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ4.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR2G3"
                     /gene_synonym="OR1-33"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ4.1);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR2G3"
                     /gene_synonym="OR1-33"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ4.1);
                     transmembrane region"
     misc_feature    586..657
                     /gene="OR2G3"
                     /gene_synonym="OR1-33"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ4.1);
                     transmembrane region"
     misc_feature    709..777
                     /gene="OR2G3"
                     /gene_synonym="OR1-33"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ4.1);
                     transmembrane region"
     misc_feature    817..876
                     /gene="OR2G3"
                     /gene_synonym="OR1-33"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ4.1);
                     transmembrane region"
ORIGIN
        1 atgggattgg gcaatgagag ttccctaatg gatttcatcc ttctaggctt ctcagaccac
       61 cctcgtctgg aggctgttct ctttgtattt gtccttttct tctacctcct gacccttgtg
      121 ggaaacttca ccataatcat catctcatat ctggatcccc ctcttcatac cccaatgtac
      181 ttttttctca gcaacctctc tttactggac atctgcttca ctactagcct tgctcctcag
      241 accttagtta acttgcaaag accaaagaag acgatcactt acggtggttg tgtggcgcaa
      301 ctctatattt ctctggcact gggctccact gaatgtatcc tcttggctga catggccttg
      361 gatcggtaca ttgctgtctg caaacccctc cactatgtag tcatcatgaa cccacggctt
      421 tgccaacagc tggcatctat ctcctggctc agtggtttgg ctagttccct aatccatgca
      481 acttttacct tgcaattgcc tctctgtggc aaccataggc tggaccattt tatttgcgaa
      541 gtaccagctc ttctcaagtt ggcttgtgtg gacaccactg tcaatgaatt ggtgcttttt
      601 gttgttagtg ttctgtttgt tgtcattcca ccagcactca tctccatctc ctatggcttc
      661 ataactcaag ctgtgctgag gatcaaatca gtagaggcaa ggcacaaagc cttcagcacc
      721 tgctcctccc accttacagt ggtgattata ttctatggca ccataatcta cgtgtacctg
      781 caacctagtg acagctatgc ccaggaccaa gggaagttta tctccctctt ctacaccatg
      841 gtgaccccca ctttaaatcc tatcatctat actttaagga acaaggatat gaaagaggct
      901 ctgaggaaac ttctctcggg aaaattgtga
//
LOCUS       NM_001001915             954 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily G member 2
            (OR2G2), mRNA.
ACCESSION   NM_001001915
VERSION     NM_001001915.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 954)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320065.1/ ENSP00000326349.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL606804.11.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..954
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..954
                     /gene="OR2G2"
                     /gene_synonym="OR1-32"
                     /note="olfactory receptor family 2 subfamily G member 2"
                     /db_xref="GeneID:81470"
                     /db_xref="HGNC:HGNC:15007"
     CDS             1..954
                     /gene="OR2G2"
                     /gene_synonym="OR1-32"
                     /note="olfactory receptor, family 2, subfamily G, member 2
                     pseudogene; olfactory receptor OR1-32"
                     /codon_start=1
                     /product="olfactory receptor 2G2"
                     /protein_id="NP_001001915.1"
                     /db_xref="CCDS:CCDS31092.1"
                     /db_xref="GeneID:81470"
                     /db_xref="HGNC:HGNC:15007"
                     /translation="MGMVRHTNESNLAGFILLGFSDYPQLQKVLFVLILILYLLTILGN
                     TTIILVSRLEPKLHMPMYFFLSHLSFLYRCFTSSVIPQLLVNLWEPMKTIAYGGCLVHL
                     YNSHALGSTECVLPAVMSCDRYVAVCRPLHYTVLMHIHLCMALASMAWLSGIATTLVQS
                     TLTLQLPFCGHRQVDHFICEVPVLIKLACVGTTFNEAELFVASILFLIVPVSFILVSSG
                     YIAHAVLRIKSATRRQKAFGTCFSHLTVVTIFYGTIIFMYLQPAKSRSRDQGKFVSLFY
                     TVVTRMLNPLIYTLRIKEVKGALKKVLAKALGVNIL"
     misc_feature    22..24
                     /gene="OR2G2"
                     /gene_synonym="OR1-32"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGZ5.1); glycosylation site"
     misc_feature    85..156
                     /gene="OR2G2"
                     /gene_synonym="OR1-32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ5.1);
                     transmembrane region"
     misc_feature    181..246
                     /gene="OR2G2"
                     /gene_synonym="OR1-32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ5.1);
                     transmembrane region"
     misc_feature    310..369
                     /gene="OR2G2"
                     /gene_synonym="OR1-32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ5.1);
                     transmembrane region"
     misc_feature    427..483
                     /gene="OR2G2"
                     /gene_synonym="OR1-32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ5.1);
                     transmembrane region"
     misc_feature    595..666
                     /gene="OR2G2"
                     /gene_synonym="OR1-32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ5.1);
                     transmembrane region"
     misc_feature    718..786
                     /gene="OR2G2"
                     /gene_synonym="OR1-32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ5.1);
                     transmembrane region"
     misc_feature    826..885
                     /gene="OR2G2"
                     /gene_synonym="OR1-32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ5.1);
                     transmembrane region"
ORIGIN
        1 atggggatgg tgagacatac caatgagagc aacctagcag gtttcatcct tttagggttt
       61 tctgattatc ctcagttaca gaaggttcta tttgtgctca tattgattct gtatttacta
      121 actattttgg ggaataccac catcattctg gtttctcgtc tggaacccaa gcttcatatg
      181 ccgatgtatt tcttcctttc tcatctctcc ttcctgtacc gctgcttcac cagcagtgtt
      241 attccccagc tcctggtaaa cctgtgggaa cccatgaaaa ctatcgccta tggtggctgt
      301 ttggttcacc tttacaactc ccatgccctg ggatccactg agtgcgtcct cccggctgtg
      361 atgtcctgtg accgctatgt ggctgtctgc cgtcctctcc attacactgt cttaatgcat
      421 atccatctct gcatggcctt ggcatctatg gcatggctca gtggaatagc caccaccctg
      481 gtacagtcca ccctcaccct gcagctgccc ttctgtgggc atcgccaagt ggatcatttc
      541 atctgcgagg tccctgtgct catcaagctg gcttgtgtgg gcaccacgtt taacgaggct
      601 gagctttttg tggctagtat ccttttcctt atagtgcctg tctcattcat cctggtctcc
      661 tctggctaca ttgcccacgc agtgttgagg attaagtcag ctaccaggag acagaaagca
      721 ttcgggacct gcttctccca cctgacagtg gtcaccatct tttatggaac catcatcttc
      781 atgtatctgc agccagccaa gagtagatcc agggaccagg gcaagtttgt ttctctcttc
      841 tacactgtgg taacccgcat gcttaaccct cttatttata ccttgaggat caaggaggtg
      901 aaaggggcat taaagaaagt tctagcaaag gctctgggag taaatatttt atga
//
LOCUS       NM_001001916             936 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily J member 3
            (OR52J3), mRNA.
ACCESSION   NM_001001916
VERSION     NM_001001916.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 936)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380370.1/ ENSP00000369728.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC113331.6.
            On Sep 7, 2007 this sequence version replaced NM_001001916.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from genomic sequence
            data because no single transcript was available for the full length
            of the gene. The extent of this transcript is supported by
            orthologous data.
FEATURES             Location/Qualifiers
     source          1..936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..936
                     /gene="OR52J3"
                     /gene_synonym="OR11-32"
                     /note="olfactory receptor family 52 subfamily J member 3"
                     /db_xref="GeneID:119679"
                     /db_xref="HGNC:HGNC:14799"
     CDS             1..936
                     /gene="OR52J3"
                     /gene_synonym="OR11-32"
                     /note="olfactory receptor OR11-32"
                     /codon_start=1
                     /product="olfactory receptor 52J3"
                     /protein_id="NP_001001916.2"
                     /db_xref="CCDS:CCDS31370.1"
                     /db_xref="GeneID:119679"
                     /db_xref="HGNC:HGNC:14799"
                     /translation="MFYHNKSIFHPVTFFLIGIPGLEDFHMWISGPFCSVYLVALLGNA
                     TILLVIKVEQTLREPMFYFLAILSTIDLALSTTSVPRMLGIFWFDAHEINYGACVAQMF
                     LIHAFTGMEAEVLLAMAFDRYVAVCAPLHYATILTSQVLVGISMCIVIRPVLLTLPMVY
                     LIYRLPFCQAHIIAHSYCEHMGIAKLSCGNIRINGIYGLFVVSFFVLNLVLIGISYVYI
                     LRAVFRLPSHDAQLKALSTCGAHVGVICVFYIPSVFSFLTHRFGHQIPGYIHILVANLY
                     LIIPPSLNPIIYGVRTKQIRERVLYVFTKK"
     misc_feature    13..15
                     /gene="OR52J3"
                     /gene_synonym="OR11-32"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH60.2); glycosylation site"
     misc_feature    82..144
                     /gene="OR52J3"
                     /gene_synonym="OR11-32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH60.2);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR52J3"
                     /gene_synonym="OR11-32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH60.2);
                     transmembrane region"
     misc_feature    304..366
                     /gene="OR52J3"
                     /gene_synonym="OR11-32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH60.2);
                     transmembrane region"
     misc_feature    424..486
                     /gene="OR52J3"
                     /gene_synonym="OR11-32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH60.2);
                     transmembrane region"
     misc_feature    595..654
                     /gene="OR52J3"
                     /gene_synonym="OR11-32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH60.2);
                     transmembrane region"
     misc_feature    715..777
                     /gene="OR52J3"
                     /gene_synonym="OR11-32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH60.2);
                     transmembrane region"
     misc_feature    823..885
                     /gene="OR52J3"
                     /gene_synonym="OR11-32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH60.2);
                     transmembrane region"
ORIGIN
        1 atgttttatc acaacaagag catatttcac ccagtcacat ttttcctcat tggaatccca
       61 ggtctggaag acttccacat gtggatctcc gggcctttct gctctgttta ccttgtggct
      121 ttgctgggca atgccaccat tctgctagtc atcaaggtag aacagactct ccgggagccc
      181 atgttctact tcctggccat tctttccact attgatttgg ccctttctac aacctctgtg
      241 cctcgcatgc tgggtatctt ctggtttgat gctcacgaga ttaactatgg agcttgtgtg
      301 gcccagatgt ttctgatcca tgccttcact ggcatggagg ctgaggtctt actggctatg
      361 gcttttgacc gttatgtggc cgtctgtgct ccactacatt acgcaaccat cttgacatcc
      421 caagtgttgg tgggcattag catgtgcatt gtaattcgtc ccgttttact tacacttccc
      481 atggtctatc ttatctaccg cctacccttt tgtcaggctc acataatagc ccattcctac
      541 tgtgagcaca tgggcattgc aaaattgtcc tgtggaaaca ttcgtatcaa tggtatctat
      601 gggctttttg tagtttcttt ctttgttctg aacctggtgc tcattggcat ctcgtatgtt
      661 tacattctcc gtgctgtctt ccgcctccca tcacatgatg ctcagctaaa agccctaagc
      721 acgtgtggcg ctcatgttgg agtcatctgt gttttctata tcccttcagt cttctctttc
      781 cttactcatc gatttggaca ccaaatacca ggttacattc acattcttgt tgccaatctc
      841 tatttgatta tcccaccctc tctcaacccc atcatttatg gggtgaggac caaacagatt
      901 cgagaacgag tgctctatgt ttttactaaa aaataa
//
LOCUS       NM_001001918             939 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 14 subfamily C member 36
            (OR14C36), mRNA.
ACCESSION   NM_001001918
VERSION     NM_001001918.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000317861.1/ ENSP00000324534.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL450303.10.
            On Aug 30, 2004 this sequence version replaced XM_060307.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..939
                     /gene="OR14C36"
                     /gene_synonym="OR5BF1"
                     /note="olfactory receptor family 14 subfamily C member 36"
                     /db_xref="GeneID:127066"
                     /db_xref="HGNC:HGNC:15026"
     CDS             1..939
                     /gene="OR14C36"
                     /gene_synonym="OR5BF1"
                     /note="olfactory receptor, family 5, subfamily BF, member
                     1; olfactory receptor OR1-59; olfactory receptor 5BF1"
                     /codon_start=1
                     /product="olfactory receptor 14C36"
                     /protein_id="NP_001001918.1"
                     /db_xref="CCDS:CCDS31112.1"
                     /db_xref="GeneID:127066"
                     /db_xref="HGNC:HGNC:15026"
                     /translation="MPNSTTVMEFLLMRFSDVWTLQILHSASFFMLYLVTLMGNILIVT
                     VTTCDSSLHMPMYFFLRNLSILDACYISVTVPTSCVNSLLDSTTISKAGCVAQVFLVVF
                     FVYVELLFLTIMAHDRYVAVCQPLHYPVIVNSRICIQMTLASLLSGLVYAGMHTGSTFQ
                     LPFCRSNVIHQFFCDIPSLLKLSCSDTFSNEVMIVVSALGVGGGCFIFIIRSYIHIFST
                     VLGFPRGADRTKAFSTCIPHILVVSVFLSSCSSVYLRPPAIPAATQDLILSGFYSIMPP
                     LFNPIIYSLRNKQIKVAIKKIMKRIFYSENV"
     misc_feature    7..9
                     /gene="OR14C36"
                     /gene_synonym="OR5BF1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NHC7.1); glycosylation site"
     misc_feature    70..132
                     /gene="OR14C36"
                     /gene_synonym="OR5BF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC7.1);
                     transmembrane region"
     misc_feature    157..219
                     /gene="OR14C36"
                     /gene_synonym="OR5BF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC7.1);
                     transmembrane region"
     misc_feature    292..354
                     /gene="OR14C36"
                     /gene_synonym="OR5BF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC7.1);
                     transmembrane region"
     misc_feature    412..474
                     /gene="OR14C36"
                     /gene_synonym="OR5BF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC7.1);
                     transmembrane region"
     misc_feature    583..645
                     /gene="OR14C36"
                     /gene_synonym="OR5BF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC7.1);
                     transmembrane region"
     misc_feature    706..768
                     /gene="OR14C36"
                     /gene_synonym="OR5BF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC7.1);
                     transmembrane region"
     misc_feature    808..870
                     /gene="OR14C36"
                     /gene_synonym="OR5BF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC7.1);
                     transmembrane region"
ORIGIN
        1 atgcccaatt caaccaccgt gatggaattt ctcctcatga ggttttctga tgtgtggaca
       61 ctacagattt tacattctgc atccttcttt atgttgtatt tggtaactct aatgggaaac
      121 atcctcattg tgaccgtcac cacctgtgac agcagccttc acatgcccat gtacttcttc
      181 ctcaggaatc tgtctatctt ggatgcctgc tacatttctg ttacagtccc tacctcatgt
      241 gtcaattccc tactggacag caccaccatt tctaaggcgg gatgtgtagc tcaggtcttc
      301 ctcgtggttt tttttgtata tgtggagctt ctgtttctca ccattatggc tcatgaccgc
      361 tatgtggctg tctgccagcc acttcactac cctgtgatcg tgaactctcg aatctgcatc
      421 cagatgacac tggcctccct actcagtggt cttgtctatg caggcatgca cactggcagc
      481 acattccagc tgcccttctg tcggtccaac gttattcatc aattcttctg tgacatcccc
      541 tctctgctga agctctcttg ctctgacacc ttcagcaatg aggtcatgat tgttgtctct
      601 gctctggggg taggtggcgg ctgtttcatc tttatcatca ggtcttacat tcacatcttt
      661 tcgaccgtgc tcgggtttcc aagaggagca gacagaacaa aggccttttc cacctgcatc
      721 cctcacatcc tggtggtgtc agtcttcctc agttcatgct cttctgtgta cctcaggcca
      781 cctgcgatac ctgcagccac ccaggatctg atcctttctg gtttttattc cataatgcct
      841 cccctcttta accctattat ttacagtctt agaaataagc aaataaaggt ggccatcaag
      901 aaaatcatga agagaatttt ttattcagaa aatgtgtaa
//
LOCUS       NM_001001919             957 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 13 subfamily C member 4
            (OR13C4), mRNA.
ACCESSION   NM_001001919
VERSION     NM_001001919.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 957)
  AUTHORS   Hasson SA, Kane LA, Yamano K, Huang CH, Sliter DA, Buehler E, Wang
            C, Heman-Ackah SM, Hessa T, Guha R, Martin SE and Youle RJ.
  TITLE     High-content genome-wide RNAi screens identify regulators of parkin
            upstream of mitophagy
  JOURNAL   Nature 504 (7479), 291-295 (2013)
   PUBMED   24270810
REFERENCE   2  (bases 1 to 957)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   3  (bases 1 to 957)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   4  (bases 1 to 957)
  AUTHORS   Hoppe R, Breer H and Strotmann J.
  TITLE     Organization and evolutionary relatedness of OR37 olfactory receptor
            genes in mouse and human
  JOURNAL   Genomics 82 (3), 355-364 (2003)
   PUBMED   12906860
REFERENCE   5  (bases 1 to 957)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
REFERENCE   6  (bases 1 to 957)
  AUTHORS   Parmentier M, Libert F, Schurmans S, Schiffmann S, Lefort A,
            Eggerickx D, Ledent C, Mollereau C, Gerard C, Perret J et al.
  TITLE     Expression of members of the putative olfactory receptor gene family
            in mammalian germ cells
  JOURNAL   Nature 355 (6359), 453-455 (1992)
   PUBMED   1370859
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000277216.3/ ENSP00000277216.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL450426.7.
            On Oct 7, 2004 this sequence version replaced XM_071098.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..957
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..957
                     /gene="OR13C4"
                     /gene_synonym="HSHTPCRX17; HTPCRX17; OR2K1; OR37F; OR9-7"
                     /note="olfactory receptor family 13 subfamily C member 4"
                     /db_xref="GeneID:138804"
                     /db_xref="HGNC:HGNC:14722"
     CDS             1..957
                     /gene="OR13C4"
                     /gene_synonym="HSHTPCRX17; HTPCRX17; OR2K1; OR37F; OR9-7"
                     /note="olfactory receptor, family 2, subfamily K, member 1;
                     olfactory receptor OR9-7"
                     /codon_start=1
                     /product="olfactory receptor 13C4"
                     /protein_id="NP_001001919.1"
                     /db_xref="CCDS:CCDS35088.1"
                     /db_xref="GeneID:138804"
                     /db_xref="HGNC:HGNC:14722"
                     /translation="MDKINQTFVREFILLGLSGYPKLEIIFFALILVMYVVILIGNGVL
                     IIASILDSRLHMPMYFFLGNLSFLDICYTTSSIPSTLVSLISKKRNISFSGCAVQMFFG
                     FAMGSTECFLLGMMAFDRYVAICNPLRYPIIMNKVVYVLLTSVSWLSGGINSTVQTSLA
                     MRWPFCGNNIINHFLCEILAVLKLACSDISVNIVTLAVSNIAFLVLPLLVIFFSYMFIL
                     YTILRTNSATGRHKAFSTCSAHLTVVIIFYGTIFFMYAKPKSQDLLGKDNLQATEGLVS
                     MFYGVVTPMLNPIIYSLRNKDVKAAIKYLLSRKAINQ"
     misc_feature    13..15
                     /gene="OR13C4"
                     /gene_synonym="HSHTPCRX17; HTPCRX17; OR2K1; OR37F; OR9-7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGS5.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR13C4"
                     /gene_synonym="HSHTPCRX17; HTPCRX17; OR2K1; OR37F; OR9-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS5.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR13C4"
                     /gene_synonym="HSHTPCRX17; HTPCRX17; OR2K1; OR37F; OR9-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS5.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR13C4"
                     /gene_synonym="HSHTPCRX17; HTPCRX17; OR2K1; OR37F; OR9-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS5.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR13C4"
                     /gene_synonym="HSHTPCRX17; HTPCRX17; OR2K1; OR37F; OR9-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS5.1);
                     transmembrane region"
     misc_feature    592..651
                     /gene="OR13C4"
                     /gene_synonym="HSHTPCRX17; HTPCRX17; OR2K1; OR37F; OR9-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS5.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR13C4"
                     /gene_synonym="HSHTPCRX17; HTPCRX17; OR2K1; OR37F; OR9-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS5.1);
                     transmembrane region"
     misc_feature    832..894
                     /gene="OR13C4"
                     /gene_synonym="HSHTPCRX17; HTPCRX17; OR2K1; OR37F; OR9-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS5.1);
                     transmembrane region"
ORIGIN
        1 atggacaaga taaaccagac atttgtgaga gaattcattc ttctgggact ctctggttac
       61 cccaaacttg agatcatttt ctttgctctg attctagtta tgtacgtagt gattctaatt
      121 ggcaatggtg ttctgatcat agcaagcatc ttggattctc gtcttcacat gcccatgtac
      181 ttcttcctgg gcaacctctc tttcctggat atctgctata caacctcctc cattccctca
      241 acactggtga gcttaatctc aaagaaaaga aacatttcct tctctggatg tgcagtgcag
      301 atgttctttg ggtttgcaat ggggtcaaca gaatgtttcc tccttggcat gatggcattt
      361 gatcgttatg tggccatctg taaccctctg agatacccca tcatcatgaa caaggtggtg
      421 tatgtactgc tgacttctgt atcatggctt tctggtggaa tcaattcaac tgtgcaaaca
      481 tcacttgcca tgcgatggcc tttctgtggg aacaatatta ttaatcattt cttatgcgag
      541 atcttagctg tcctaaaatt agcttgttct gatatatctg tcaatattgt taccctagca
      601 gtgtcaaata ttgctttcct agttcttcct ctgctcgtga tttttttctc ctatatgttc
      661 atcctctaca ccatcttgcg aacgaactcg gccacaggaa gacacaaggc attttctaca
      721 tgctcagctc acctgactgt ggtgatcata ttttatggta ccatcttctt tatgtatgca
      781 aaacctaagt cccaggacct ccttgggaaa gacaacttgc aagctacaga ggggcttgtt
      841 tccatgtttt atggggttgt gacccccatg ttaaacccca taatctatag cttgagaaat
      901 aaagatgtaa aagctgctat aaaatatttg ctgagcagga aagctattaa ccagtaa
//
LOCUS       NM_001001920             951 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily C member 15
            (OR4C15), mRNA.
ACCESSION   NM_001001920
VERSION     NM_001001920.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 951)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642128.1/ ENSP00000493126.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001998.4.
            On Nov 19, 2020 this sequence version replaced NM_001001920.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..951
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q11"
     gene            1..951
                     /gene="OR4C15"
                     /gene_synonym="OR11-127; OR11-134"
                     /note="olfactory receptor family 4 subfamily C member 15"
                     /db_xref="GeneID:81309"
                     /db_xref="HGNC:HGNC:15171"
     CDS             1..951
                     /gene="OR4C15"
                     /gene_synonym="OR11-127; OR11-134"
                     /note="olfactory receptor OR11-134; olfactory receptor
                     OR11-127"
                     /codon_start=1
                     /product="olfactory receptor 4C15"
                     /protein_id="NP_001001920.2"
                     /db_xref="CCDS:CCDS31501.2"
                     /db_xref="GeneID:81309"
                     /db_xref="HGNC:HGNC:15171"
                     /translation="MQNQSFVTEFVLLGLSQNPNVQEIVFVVFLFVYIATVGGNMLIVV
                     TILSSPALLVSPMYFFLGFLSFLDACFSSVITPKMIVDSLYVTKTISFEGCMMQLFAEH
                     FFAGVEVIVLTAMAYDRYVAICKPLHYSSIMNRRLCGILMGVAWTGGLLHSMIQILFTF
                     QLPFCGPNVINHFMCDLYPLLELACTDTHIFGLMVVINSGFICIINFSLLLVSYAVILL
                     SLRTHSSEGRWKALSTCGSHIAVVILFFVPCIFVYTRPPSAFSLDKMAAIFYIILNPLL
                     NPLIYTFRNKEVKQAMRRIWNRLMVVSDEKENIKL"
     misc_feature    7..9
                     /gene="OR4C15"
                     /gene_synonym="OR11-127; OR11-134"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGM1.1); glycosylation site"
     misc_feature    70..141
                     /gene="OR4C15"
                     /gene_synonym="OR11-127; OR11-134"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM1.1);
                     transmembrane region"
     misc_feature    169..234
                     /gene="OR4C15"
                     /gene_synonym="OR11-127; OR11-134"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM1.1);
                     transmembrane region"
     misc_feature    298..357
                     /gene="OR4C15"
                     /gene_synonym="OR11-127; OR11-134"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM1.1);
                     transmembrane region"
     misc_feature    415..471
                     /gene="OR4C15"
                     /gene_synonym="OR11-127; OR11-134"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM1.1);
                     transmembrane region"
     misc_feature    583..651
                     /gene="OR4C15"
                     /gene_synonym="OR11-127; OR11-134"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM1.1);
                     transmembrane region"
     misc_feature    703..771
                     /gene="OR4C15"
                     /gene_synonym="OR11-127; OR11-134"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM1.1);
                     transmembrane region"
     misc_feature    805..864
                     /gene="OR4C15"
                     /gene_synonym="OR11-127; OR11-134"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM1.1);
                     transmembrane region"
ORIGIN
        1 atgcaaaacc aaagctttgt aactgagttt gtcctcctgg gactttcaca gaatccaaat
       61 gttcaggaaa tagtatttgt tgtatttttg tttgtctaca ttgcaactgt tgggggcaac
      121 atgctaattg tagtaaccat tctcagcagc cctgctcttc tggtgtctcc tatgtacttc
      181 ttcttgggct tcctgtcctt cctggatgcg tgcttctcat ctgtcatcac cccaaagatg
      241 attgtagact ccctctatgt gacaaaaacc atctcttttg aaggctgcat gatgcagctc
      301 tttgctgaac acttctttgc tggggtggag gtgattgtcc tcacagccat ggcctatgat
      361 cgttatgtgg ccatttgcaa gcccttgcat tactcttcta tcatgaacag gaggctctgt
      421 ggcattctga tgggggtagc ctggacaggg ggcctcttgc attccatgat acaaattctt
      481 tttactttcc agcttccctt ttgtggcccc aatgtcatca atcactttat gtgtgacttg
      541 tacccgttac tggagcttgc ctgcactgat actcacatct ttggcctcat ggtggtcatc
      601 aacagtgggt ttatctgcat cataaacttc tccttgttgc ttgtctccta tgctgtcatc
      661 ttgctctctc tgagaacaca cagttctgaa gggcgctgga aagctctctc cacctgtgga
      721 tctcacattg ctgttgtgat tttgttcttt gtcccatgca tatttgtata tacacgacct
      781 ccatctgctt tttcccttga caaaatggcg gcaatatttt atatcatctt aaatcccttg
      841 ctcaatcctt tgatttacac tttcaggaat aaggaagtaa aacaggccat gaggagaata
      901 tggaacagac tgatggtggt ttctgatgag aaagaaaata ttaaacttta a
//
LOCUS       NM_001001921            7860 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily AS member 1
            (OR5AS1), mRNA.
ACCESSION   NM_001001921
VERSION     NM_001001921.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7860)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 7860)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000641320.1/ ENSP00000493325.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC068339.6.
            On Aug 21, 2020 this sequence version replaced NM_001001921.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..7860
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..7860
                     /gene="OR5AS1"
                     /gene_synonym="OR11-168"
                     /note="olfactory receptor family 5 subfamily AS member 1"
                     /db_xref="GeneID:219447"
                     /db_xref="HGNC:HGNC:15261"
     misc_feature    31..33
                     /gene="OR5AS1"
                     /gene_synonym="OR11-168"
                     /note="upstream in-frame stop codon"
     misc_feature    49..51
                     /gene="OR5AS1"
                     /gene_synonym="OR11-168"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MVLRSSGKNKKTK"
     CDS             88..1062
                     /gene="OR5AS1"
                     /gene_synonym="OR11-168"
                     /note="olfactory receptor OR11-168"
                     /codon_start=1
                     /product="olfactory receptor 5AS1"
                     /protein_id="NP_001001921.1"
                     /db_xref="CCDS:CCDS31516.1"
                     /db_xref="GeneID:219447"
                     /db_xref="HGNC:HGNC:15261"
                     /translation="MLESNYTMPTEFLFVGFTDYLPLRVTLFLVFLLVYTLTMVGNILL
                     IILVNINSSLQIPMYYFLSNLSFLDISCSTAITPKMLANFLASRKSISPYGCALQMFFF
                     ASFADAECLILAAMAYDRYAAICNPLLYTTLMSRRVCVCFIVLAYFSGSTTSLVHVCLT
                     FRLSFCGSNIVNHFFCDIPPLLALSCTDTQINQLLLFALCSFIQTSTFVVIFISYFCIL
                     ITVLSIKSSGGRSKTFSTCASHLIAVTLFYGALLFMYLQPTTSYSLDTDKVVAVFYTVV
                     FPMFNPIIYSFRNKDVKNALKKLLERIGYSNEWYLNRLRIVNI"
     misc_feature    100..102
                     /gene="OR5AS1"
                     /gene_synonym="OR11-168"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N127.1); glycosylation site"
     misc_feature    163..225
                     /gene="OR5AS1"
                     /gene_synonym="OR11-168"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N127.1);
                     transmembrane region"
     misc_feature    250..312
                     /gene="OR5AS1"
                     /gene_synonym="OR11-168"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N127.1);
                     transmembrane region"
     misc_feature    385..447
                     /gene="OR5AS1"
                     /gene_synonym="OR11-168"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N127.1);
                     transmembrane region"
     misc_feature    487..549
                     /gene="OR5AS1"
                     /gene_synonym="OR11-168"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N127.1);
                     transmembrane region"
     misc_feature    676..738
                     /gene="OR5AS1"
                     /gene_synonym="OR11-168"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N127.1);
                     transmembrane region"
     misc_feature    799..861
                     /gene="OR5AS1"
                     /gene_synonym="OR11-168"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N127.1);
                     transmembrane region"
     misc_feature    901..963
                     /gene="OR5AS1"
                     /gene_synonym="OR11-168"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N127.1);
                     transmembrane region"
ORIGIN
        1 tgttgatagc ccattgtgca aaataagtga taaaattcaa agttcttgat ggtgctgagg
       61 tccagtggga aaaacaagaa aactaagatg ttggagagta attacaccat gccaactgag
      121 ttcctatttg ttggattcac agattatcta cctctcagag tcacactgtt cttggtattc
      181 cttctggtat atacattaac tatggtcgga aatatactct taataattct agttaatatt
      241 aattcaagcc ttcaaattcc catgtattat tttcttagca acttatcttt cttagacatc
      301 agctgttcta cagcaatcac tcctaaaatg ctggcaaact tcttggcatc caggaaaagc
      361 atctctcctt atgggtgtgc actacaaatg tttttcttcg cttcttttgc tgatgctgag
      421 tgccttatcc tggcagcaat ggcttatgac cgctatgcag ccatctgcaa cccactgctc
      481 tatactacac tgatgtctag gagagtctgt gtctgcttca ttgtgttggc atatttcagt
      541 ggaagtacaa catcactggt ccatgtgtgc ctcacattca ggctgtcatt ttgtggctcc
      601 aatatcgtca atcatttttt ctgtgatatc ccacctcttc tggctttatc atgtacagac
      661 actcagatca accagcttct gctctttgct ttgtgcagct tcatccagac cagcactttt
      721 gtggtaatat ttatttctta cttctgcatc ctcatcactg tgttgagcat caagtcctca
      781 ggtggcagaa gcaaaacatt ctccacttgt gcttcccacc tcatagcagt caccttattc
      841 tatggagcgc tcctgtttat gtacttacag cccaccacta gctattccct agacactgat
      901 aaggtggtgg cagtgtttta tactgttgta tttcccatgt ttaatccaat aatttatagt
      961 ttcagaaaca aggatgtgaa aaatgctctc aaaaagctat tagaaagaat tggatattca
     1021 aatgaatggt atttaaatcg tttaagaata gtcaatatct aacttaccct tccaatctca
     1081 taaacagcaa ttatgccatg aacatcttat gtgttaacta ttttaaattt atcacatttt
     1141 cagaaataaa gataacttgt tatactcagt gcattaaaat gcttcatcct ctcttccaaa
     1201 aatgttctct ccacaattct actctataaa acattaccta attaaacata gtcattattt
     1261 atatccaatt agtgtttcta aaatgctttg tacattgatt ctgttcttta cgatgttgta
     1321 ttgaaggtaa atattgactt ttcagtcaat caatcggtat tagaagctac ttggcagcag
     1381 agcatgtgta tattggcttg ttttttccac cacctgtttg gcacctggta tactgcatgt
     1441 cttccttatc tgtgtgttta ggccatttat gcatagagtt ccattattgg aacactaagc
     1501 atcctactgc tcaaggtcat cgccaaggtc tgatttcaaa aattcaaaat attgtaacct
     1561 cagacataaa tttaagtatg gatggaggga tggatagatg gatagataga tgaatgactg
     1621 ggaaaataca gccttatttt atttggacag tgagtctata tttgtactca caaagcattt
     1681 gtcaatagag atattttata ataccaataa tctgttaggg atactgatgg tggtttcact
     1741 ggttctcaag aaattagaag acatgtagca atagtctcat tattattaag tcagaatgaa
     1801 gatacatcac attgtctttg ggctaagttg attactgcaa gaaattccct actttttcat
     1861 tcagagtggg taattgtgaa aaacaagttt gtgaatacta tcaagattat aaactgtaga
     1921 atttcctaat tatttatatt catgttgcta acatagtctt tgaggctcta tcttcaagaa
     1981 gaggtgaaaa ttacactgat cttttattct gtaaatttac aatgcaaggc aattaaagta
     2041 taaacaattt ttactctgta atcgattttg ataattaaat tatcagattt tttgtggttt
     2101 attctgatct ttcagtctga agtctctatt tactttttgt cttattttga caaagttaaa
     2161 gtgatacacc atgtacatgt gaaataaaaa agtgtgcatt ttgtaataat tatgaaaata
     2221 taaatggttg gattagttat attgaattta accttggaca tggagacaat aagatagcac
     2281 ctaatgaaat ggattgtttt gagtattaag taaagttata tatgtaaaat tactggtata
     2341 tgtatatgat ttgaaaatta aataatctaa tatttataga cataccatga agatactgtg
     2401 ggttctcttc tagatcacta caataaagca actgacgcag taaagtgtca cacaaatttt
     2461 tagatttctc agtgcatatc atagttatgt ttggtggctg gcaagatggt caaataggag
     2521 atgctccagt ctgctgctcc cagcaagatc aacagagaag gtgggtgatt tctgcatttc
     2581 caactgaggt acctggctca tctcattggg actggttaga cagtgggtgc agcccatggt
     2641 gggtgagcag aagcagggtg gggtgttgct tcacccggga agcacaaagg gttggcaaac
     2701 tccctccact agccaaggga agccatgaag gactgtgcca tgaggaacgg gtgcactctg
     2761 gcccagatac tatgcttttc ccatcgtctt cacaacacac ggaccaggag attcccttgg
     2821 gtgcctacat caccagctcc ctgggattga agcacaaaac tcggtggctg tttgggcagg
     2881 cactgagcta gctgcaggag ttttcttcat accccagtgg cacctggaat gccagcgaga
     2941 cagaaccatt cactcccctg gaaagggggc tgaagccagg gagccaagtg gtctagctca
     3001 gcagatccca cccccatgga gcccagcaag ctaagatcca ctggcttgaa attcttcctg
     3061 caagcatagc agtctgaagt tgacctggga tgctcgagct tggttggagg aggagagtcc
     3121 gccattgctg aggcttcagt aggcagtttt cccctcatag tgtaaacaaa gctgccagga
     3181 agtttgaact gggtggagcc caccgcagca ctgcaaaacc tctgtagcca gactgcctct
     3241 ctagattcct cctctctggg caggggatct ctaaaaaaaa ggcagcagcc ccagttaggg
     3301 gcctagagat aaaaccccca tccccctgag acagagcacc ttaaggaagg gatggctgtg
     3361 ggtgcagctt cagcagattt aaatgtccct gcctgctggc tctaaggaga gcagcatacc
     3421 tcccagcaca tcgttcaagc tctcctaaga gatagactcc tgcatcaagt gggtccttga
     3481 ccccgtgact cttgactggg agacaccttc cagtaggggt tgacagatac ctcataggag
     3541 agagctccag ctggcatctc acaggtgtgc ctctaggatg aagcttccaa aggaaggaac
     3601 gggcagcaat ctttactgtt ctgcagcctt cgcaggcaaa cagggtctgg agtggatctc
     3661 cagcaaactc cagcagacct gcagcagagg ggcctgacaa ttaaaaggaa aactaaggaa
     3721 tagcatcaat atcaacaaaa aggacgtcca ctcagaaact ccaccaccaa catcaaagac
     3781 caaaggtaga taaatgcatg atggtgagga aaaaccaatg caaaaaggct gaaaatttct
     3841 aaaaccagac atctcttctc ccacaaagga tcacaattcc acgccagcaa ggaaacaaaa
     3901 ctggacagag aatgagtttg atgaattgat ggaagtaatt gggtaataac aaatagaaga
     3961 attgggtaat atcaaactcc tctgagctaa aggagcatgt cctaactcaa tgcaaagaag
     4021 ctaagaacct cgaaaaatgg ttagaggaat tgctaattag aataactggt ttgaagagaa
     4081 cataaataac ctgatggagc tgaaaaacac agcacgagaa cttcatgaag catacacaag
     4141 catcaatagc caaatcgatc aaacagaagg aaggatatca gagattgaag atcaacttaa
     4201 tgaaataaag cttgaagaca agattagaga aaaaagaatg caaagaaatg aacaaagccc
     4261 ccagggatta tgggactatg tgaaaagagc aaacatatat ttgattggtg tacctgaaag
     4321 tgagggggag aatggaacca acttggaaaa cactcttcag gatatcatcc aggagaaact
     4381 ccccaaccta acaagacagg ccaacattca aattcaggaa atacatgtaa caccacaaag
     4441 atacacctca agaagagcaa cccccagaca cataatcatc agattcacca aggtggaaat
     4501 gaaggaaaaa atgttaaggt gttaaggaca gccagagaga aagctcacat tacccacaaa
     4561 gggaagccca tcagactaac agcggctgtc tcagcagaaa ccctataagc cagaagtgag
     4621 tgggggccaa tatccaacag tcttaaagaa aagaatttta aatgcagagt ttcatattca
     4681 gccaaactaa gcttcatgag tggagggaaa taaaatcctt tacagaaaag caaatgctga
     4741 gagattttgt caccaccagg cctgctttac aagagctcct gaaggaagca ctaaacatgg
     4801 aaaggtacaa ctggtaacag ccactgcaaa aaaaacaaat tttaaagaac attgacacta
     4861 cgaagaaacc acatcagcta atgggcaaaa taaccagcta gcatcataat gacaggatca
     4921 aattcacaca taacaatatt aaccttaaat gtaaatgggc tgaaagcccc agttaaaagc
     4981 cacagactgg caaattggat agagtcaaga ccgattggtg tgctgtattc aggagaccga
     5041 tctcatgtgc aaagcataca taggctcaaa ataacgggat ggaggaatat ttaccaagca
     5101 aatggatagc aaataaagaa aaaagaaaaa aaaaacaaca aagcacaggg gttgtaatcc
     5161 tagtctctga taaaacagac tataaccaaa aaagatcaaa agagataaag aaggcaatac
     5221 ataatggtaa aaggatcaat gcaacaagaa gagctaacta tactaaatat atatgtaccc
     5281 aatacaagag cacccaaatt cataaagcca gttcttagag atctatgaag agacttagac
     5341 taacacacaa aaatagtggg agactttaac accccacagt caacattaga cagaccaaga
     5401 cagaaaatta acaaggatat tcaggacttg aactcagctc tggaccaagc agacctaata
     5461 gacctctaca gaactctaca ccccaaatca atagaatata cattattctc agcaccacat
     5521 tgcatttatt ctaaaattga ccacaatatt gcaagtaaaa tactcctcag caaatgcaaa
     5581 acaatggaaa tcataacagt ctctcagacc acagtgcaat caaattagaa ctcaggatta
     5641 agaaactcac tcaaaaccac acatctacat ggaaactgaa caacctgctc atgaatgact
     5701 actgggtaaa taatgaaaat aaagcagaaa taaataagtt atttgaaacc aatgagaaca
     5761 aagacacaag gtatcagaat ctctgggaca tagctaaagc agtgtttaga ggaaaattca
     5821 cagtactaaa ggcccacaag agaaagcagg aaagatctaa aatcaacacc ctaacatcac
     5881 aattaaaaga actagataaa caagaacaaa caaattcaaa agcctcagaa gacaagaaat
     5941 aactaagatc agagcagaac tgaaggagat agagacatga aaaacccttc aaaaaatcaa
     6001 tgaatccagg agttggtttt tggaaaagat caacaaaata gaaagaacac tagccagact
     6061 aataaagaag aaaagagaga agaatcaaat agacacaata aaaaattata aaggggatat
     6121 caccactgtt cccacagaaa tacaaactac catcagagaa tactataaac acctccacac
     6181 aaataaacta gaaaacctgg aagaaatggt taaattcctg gaaacacaca ccctcccaag
     6241 tctaatccag gaagaagtca aatccatgaa tagaccaaaa acaagtccca aaattgaggc
     6301 agtaattaat agcctaccaa caaaaaatag tccaggacca gccaaattct accagacata
     6361 caaagaggag ctggtactat tccttctgaa actattccaa gcaatagaaa acgagaggct
     6421 cctccctaac tcattttatg cggccagcat catcctgata tgaaaacctg gcagagacac
     6481 agcaaaaaaa gaacatgcca ggccaatatc cctgatgaac atgatgcaaa aatcctcaaa
     6541 aaatactggc aaactgaatt cagcggcaca tcaaaaagct tatccaccaa tcaaattggc
     6601 tttatccctg ggatgcaagg ctggcttaac atacgcaaat caataaacgt aacccatctc
     6661 ataaacagaa ccaatgacaa aagcacatgt ttatctcaac agatgccgaa aaggcctttg
     6721 ataaaattca acacccttcg tgctaaaaac tctcaataaa ctaggtattg acaaacatat
     6781 ctccaaataa taagagctat tatgacaaac ccacagccaa tatcatactg aatgggcaaa
     6841 aactggacgc attccctttg aaaaccggca caaaacaatg atgccctctc tcaccactcc
     6901 tattcaacat agtattgaaa gtgctggcca gggcaatcag gcaagataaa gaaataaagg
     6961 atattcaaat aggaaaagag gaagtcaaat cgtctctgtt tgcagatgac atgattgtat
     7021 atttagaaaa ccccatcgtc tcaggccaaa atctccttaa gctgataagc aacttcagca
     7081 aaatgtcagg atacaaaatc aatgtgcaaa aatcacaagc attcctatac accaataaca
     7141 gacaaacaga gccaaatcga atgaactgcc attcacaatt gctacaaaag agtgtaaaat
     7201 acctagaaat acaacttacg agggatatga atgacctctt caaggagaac tacaaattag
     7261 tgctcaagga aataagagag gacacaaaca aatggaaaaa cattccatgc tcatggatat
     7321 gaagaatcaa tatcatgaaa atggccatct actgccctaa gtaattttta gattcaatac
     7381 tatccccgtc aagctatcat tgaatttctt cacagaatta gaaaaaaaaa aaaactactt
     7441 taaatttcat gtggaaccag aaaacagccc atgtagccca ggcaatccta agcaaaaaga
     7501 acaaagctgg aggcatcatg ctacctggct tcaaactata ctacaaggct acagtaataa
     7561 aaacagtatg gtcctggtac caaagcagat atatagacca atggaacaga atagaggcct
     7621 cacaaataac accacacatc tacaaccatc tgatctttga caaacctgac aaaaacaagc
     7681 aatgaggaaa ggattcccta tttaataaat ggtgttggga aaactggcta gccatatgca
     7741 gaaagcagaa actggacccc ttccttatat cttatacaaa aattaactca agatggatta
     7801 aagacttaaa cataaaacca tcaacacgct gaaccatgca cttgccttgc tattgatggc
//
LOCUS       NM_001001923             963 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily C member 1
            (OR5C1), mRNA.
ACCESSION   NM_001001923
VERSION     NM_001001923.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 963)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373680.3/ ENSP00000362784.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065725.1.
            On Oct 7, 2004 this sequence version replaced XM_373316.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..963
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     gene            1..963
                     /gene="OR5C1"
                     /gene_synonym="OR5C2P; OR9-31; OR9-F"
                     /note="olfactory receptor family 5 subfamily C member 1"
                     /db_xref="GeneID:392391"
                     /db_xref="HGNC:HGNC:8331"
     CDS             1..963
                     /gene="OR5C1"
                     /gene_synonym="OR5C2P; OR9-31; OR9-F"
                     /note="hRPK-465_F_21; olfactory receptor, family 5,
                     subfamily C, member 2 pseudogene; olfactory receptor 5C2;
                     olfactory receptor 9-F"
                     /codon_start=1
                     /product="olfactory receptor 5C1"
                     /protein_id="NP_001001923.1"
                     /db_xref="CCDS:CCDS35131.1"
                     /db_xref="GeneID:392391"
                     /db_xref="HGNC:HGNC:8331"
                     /translation="MNSENLTRAAVAPAEFVLLGITNRWDLRVALFLTCLPVYLVSLLG
                     NMGMALLIRMDARLHTPMYFFLANLSLLDACYSSAIGPKMLVDLLLPRATIPYTACALQ
                     MFVFAGLADTECCLLAAMAYDRYVAIRNPLLYTTAMSQRLCLALLGASGLGGAVSAFVH
                     TTLTFRLSFCRSRKINSFFCDIPPLLAISCSDTSLNELLLFAICGFIQTATVLAITVSY
                     GFIAGAVIHMRSVEGSRRAASTGGSHLTAVAMMYGTLIFMYLRPSSSYALDTDKMASVF
                     YTLVIPSLNPLIYSLRNKEVKEALRQTWSRFHCPGQGSQ"
     misc_feature    13..15
                     /gene="OR5C1"
                     /gene_synonym="OR5C2P; OR9-31; OR9-F"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGR4.1); glycosylation site"
     misc_feature    88..150
                     /gene="OR5C1"
                     /gene_synonym="OR5C2P; OR9-31; OR9-F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR4.1);
                     transmembrane region"
     misc_feature    175..237
                     /gene="OR5C1"
                     /gene_synonym="OR5C2P; OR9-31; OR9-F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR4.1);
                     transmembrane region"
     misc_feature    310..372
                     /gene="OR5C1"
                     /gene_synonym="OR5C2P; OR9-31; OR9-F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR4.1);
                     transmembrane region"
     misc_feature    430..492
                     /gene="OR5C1"
                     /gene_synonym="OR5C2P; OR9-31; OR9-F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR4.1);
                     transmembrane region"
     misc_feature    601..663
                     /gene="OR5C1"
                     /gene_synonym="OR5C2P; OR9-31; OR9-F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR4.1);
                     transmembrane region"
     misc_feature    724..786
                     /gene="OR5C1"
                     /gene_synonym="OR5C2P; OR9-31; OR9-F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR4.1);
                     transmembrane region"
     misc_feature    826..888
                     /gene="OR5C1"
                     /gene_synonym="OR5C2P; OR9-31; OR9-F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR4.1);
                     transmembrane region"
ORIGIN
        1 atgaactcag agaacctcac ccgggccgcg gttgcccctg ctgaattcgt cctcctgggc
       61 atcacaaatc gctgggacct gcgtgtggcc ctcttcctga cctgcctgcc tgtctacctg
      121 gtgagcctgc tgggaaacat gggcatggcg ctgctgatcc gcatggatgc ccggctccac
      181 acacctatgt acttcttcct ggccaacctc tccctgctgg atgcctgcta ttcctccgcc
      241 atcggcccca agatgctagt ggacctgctg ctgccccgag ccaccatccc ttacacagcc
      301 tgtgccctcc agatgtttgt ctttgcaggt ctggctgata ctgagtgttg cttgctggca
      361 gccatggcct atgaccgcta cgtggccatc agaaacccac ttctctatac aacagctatg
      421 tcgcagcgtc tatgcctggc cttgctggga gcatcaggcc tgggtggggc agtgagtgcc
      481 tttgttcaca caaccctcac cttccgcctg agcttctgcc gctcccggaa gatcaatagc
      541 ttcttctgcg atatccctcc actgctggcc atctcgtgca gtgacaccag tctcaatgaa
      601 ctccttctct tcgccatctg tggcttcatc cagacagcca cggtgttagc tatcacggtg
      661 tcttatggct tcatcgctgg ggctgtgatc cacatgcgct cggtcgaggg cagtcggcga
      721 gcagcctcca ccggtggttc ccacctcaca gccgtggcca tgatgtacgg gacactcatt
      781 ttcatgtacc tgcgccccag ctccagctat gccctggaca ctgacaagat ggcctctgtg
      841 ttctataccc tggtcatccc gtctctcaac ccactcatct acagcctccg caataaggag
      901 gtcaaggagg ccctcaggca gacctggagc cgattccact gtccagggca ggggtcccag
      961 tga
//
LOCUS       NM_001001936            3722 bp    mRNA    linear   PRI 26-FEB-2023
DEFINITION  Homo sapiens actin filament associated protein 1 like 2 (AFAP1L2),
            transcript variant 1, mRNA.
ACCESSION   NM_001001936
VERSION     NM_001001936.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3722)
  AUTHORS   Yang S, Wang B, Liao J, Hong Z, Zhong X, Chen S, Wu Z, Zhang X and
            Zuo Q.
  TITLE     Molecular mechanism of XB130 adaptor protein mediates trastuzumab
            resistance in gastric cancer
  JOURNAL   Clin Transl Oncol 25 (3), 685-695 (2023)
   PUBMED   36284062
  REMARK    GeneRIF: Molecular mechanism of XB130 adaptor protein mediates
            trastuzumab resistance in gastric cancer.
REFERENCE   2  (bases 1 to 3722)
  AUTHORS   Poosekeaw P, Pairojkul C, Sripa B, Sa Ngiamwibool P, Iamsaard S,
            Sakonsinsiri C, Thanan R and Ungarreevittaya P.
  TITLE     Adaptor protein XB130 regulates the aggressiveness of
            cholangiocarcinoma
  JOURNAL   PLoS One 16 (11), e0259075 (2021)
   PUBMED   34780466
  REMARK    GeneRIF: Adaptor protein XB130 regulates the aggressiveness of
            cholangiocarcinoma. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3722)
  AUTHORS   Wang Q, Yang G, Jiang Y, Luo M, Li C, Zhao Y, Xie Y, Song K and Zhou
            J.
  TITLE     XB130, regulated by miR-203, miR-219, and miR-4782-3p, mediates the
            proliferation and metastasis of non-small-cell lung cancer cells
  JOURNAL   Mol Carcinog 59 (5), 557-568 (2020)
   PUBMED   32159887
  REMARK    GeneRIF: High XB130 expression is associated with proliferation and
            metastasis of non-small-cell lung cancer.
REFERENCE   4  (bases 1 to 3722)
  AUTHORS   Xie T, Jiang C, Dai T, Xu R, Zhou X, Su X and Zhao X.
  TITLE     Knockdown of XB130 restrains cancer stem cell-like phenotype through
            inhibition of Wnt/beta-Catenin signaling in breast cancer
  JOURNAL   Mol Carcinog 58 (10), 1832-1845 (2019)
   PUBMED   31219645
  REMARK    GeneRIF: This study indicates that XB130 plays an important role in
            maintaining the epithelial-mesenchymal transition (EMT) and stem
            cell-like characteristics of breast cancer cells, supporting the
            significance of XB130 as a new potential therapeutic target for
            early diagnosis and prognosis of breast cancer.
REFERENCE   5  (bases 1 to 3722)
  AUTHORS   Shen J, Jin C, Liu Y, Rao H, Liu J and Li J.
  TITLE     XB130 enhances invasion and migration of human colorectal cancer
            cells by promoting epithelial-mesenchymal transition
  JOURNAL   Mol Med Rep 16 (4), 5592-5598 (2017)
   PUBMED   28849225
  REMARK    GeneRIF: present study demonstrated that the expression of XB130 is
            elevated in CRC cells. Loss of XB130 was associated with decreased
            invasion and migration of CRC cells, possibly as a result of EMT
            inhibition.
REFERENCE   6  (bases 1 to 3722)
  AUTHORS   Cirulli ET, Kasperaviciute D, Attix DK, Need AC, Ge D, Gibson G and
            Goldstein DB.
  TITLE     Common genetic variation and performance on standardized cognitive
            tests
  JOURNAL   Eur J Hum Genet 18 (7), 815-820 (2010)
   PUBMED   20125193
  REMARK    Erratum:[Eur J Hum Genet. 2010 Jul;18(7):820]
REFERENCE   7  (bases 1 to 3722)
  AUTHORS   Xu J, Bai XH, Lodyga M, Han B, Xiao H, Keshavjee S, Hu J, Zhang H,
            Yang BB and Liu M.
  TITLE     XB130, a novel adaptor protein for signal transduction
  JOURNAL   J Biol Chem 282 (22), 16401-16412 (2007)
   PUBMED   17412687
REFERENCE   8  (bases 1 to 3722)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS,
            Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer
            N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White
            TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC,
            Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 3722)
  AUTHORS   Zhang Y, Wolf-Yadlin A, Ross PL, Pappin DJ, Rush J, Lauffenburger DA
            and White FM.
  TITLE     Time-resolved mass spectrometry of tyrosine phosphorylation sites in
            the epidermal growth factor receptor signaling network reveals
            dynamic modules
  JOURNAL   Mol Cell Proteomics 4 (9), 1240-1250 (2005)
   PUBMED   15951569
REFERENCE   10  (bases 1 to 3722)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage
            AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G,
            Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T,
            Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S,
            Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T,
            Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N,
            Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall
            M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL,
            Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm
            L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF474151.1, SRR1803617.110518.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000304129.9/ ENSP00000303042.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC024314.1, BC033212.1, AC005383.2, AK123108.1, BC035713.1 and
            AB067501.1.
            On Nov 23, 2018 this sequence version replaced NM_001001936.2.
            Transcript Variant: This variant (1) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 3. It encodes
            isoform 1, which is shorter than isoform 3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3722
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.3"
     gene            1..3722
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /note="actin filament associated protein 1 like 2"
                     /db_xref="GeneID:84632"
                     /db_xref="HGNC:HGNC:25901"
                     /db_xref="MIM:612420"
     CDS             48..2504
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /note="isoform 1 is encoded by transcript variant 1;
                     AFAP1-like protein 2; CTB-1144G6.6"
                     /codon_start=1
                     /product="actin filament-associated protein 1-like 2
                     isoform 1"
                     /protein_id="NP_001001936.1"
                     /db_xref="CCDS:CCDS31286.1"
                     /db_xref="GeneID:84632"
                     /db_xref="HGNC:HGNC:25901"
                     /db_xref="MIM:612420"
                     /translation="MERYKALEQLLTELDDFLKILDQENLSSTALVKKSCLAELLRLYT
                     KSSSSDEEYIYMNKVTINKQQNAESQGKAPEEQGLLPNGEPSQHSSAPQKSLPDLPPPK
                     MIPERKQLAIPKTESPEGYYEEAEPYDTSLNEDGEAVSSSYESYDEEDGSKGKSAPYQW
                     PSPEAGIELMRDARICAFLWRKKWLGQWAKQLCVIKDNRLLCYKSSKDHSPQLDVNLLG
                     SSVIHKEKQVRKKEHKLKITPMNADVIVLGLQSKDQAEQWLRVIQEVSGLPSEGASEGN
                     QYTPDAQRFNCQKPDIAEKYLSASEYGSSVDGHPEVPETKDVKKKCSAGLKLSNLMNLG
                     RKKSTSLEPVERSLETSSYLNVLVNSQWKSRWCSVRDNHLHFYQDRNRSKVAQQPLSLV
                     GCEVVPDPSPDHLYSFRILHKGEELAKLEAKSSEEMGHWLGLLLSESGSKTDPEEFTYD
                     YVDADRVSCIVSAAKNSLLLMQRKFSEPNTYIDGLPSQDRQEELYDDVDLSELTAAVEP
                     TEEATPVADDPNERESDRVYLDLTPVKSFLHGPSSAQAQASSPTLSCLDNATEALPADS
                     GPGPTPDEPCIKCPENLGEQQLESLEPEDPSLRITTVKIQTEQQRISFPPSCPDAVVAT
                     PPGASPPVKDRLRVTSAEIKLGKNRTEAEVKRYTEEKERLEKKKEEIRGHLAQLRKEKR
                     ELKETLLKCTDKEVLASLEQKLKEIDEECRGEESRRVDLELSIMEVKDNLKKAEAGPVT
                     LGTTVDTTHLENVSPRPKAVTPASAPDCTPVNSATTLKNRPLSVVVTGKGTVLQKAKEW
                     EKKGAS"
     misc_feature    213..215
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q5DTU0; propagated from
                     UniProtKB/Swiss-Prot (Q8N4X5.1); phosphorylation site"
     misc_feature    243..536
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4X5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1269..1271
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5DTU0; propagated from
                     UniProtKB/Swiss-Prot (Q8N4X5.1); phosphorylation site"
     misc_feature    1284..1286
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q5DTU0; propagated from
                     UniProtKB/Swiss-Prot (Q8N4X5.1); phosphorylation site"
     misc_feature    1497..1499
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5DTU0; propagated from
                     UniProtKB/Swiss-Prot (Q8N4X5.1); phosphorylation site"
     misc_feature    1584..1643
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4X5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2340..2408
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4X5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3275..3280
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /note="hexamer: ATTAAA"
     polyA_site      3305
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /note="major polyA site"
     regulatory      3368..3373
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /note="hexamer: TATAAA"
     polyA_site      3389
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
     regulatory      3699..3704
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /note="hexamer: AATAAA"
     polyA_site      3722
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
ORIGIN
        1 agagcagcgc agaagccgag ccgcgaggag cgcactccgt ggccccgatg gagcggtaca
       61 aagccctgga acagctgctg acagagttgg atgacttcct caagattctt gaccaggaga
      121 acctgagcag cacagcactg gtgaagaaga gctgcctggc ggagctcctc cggctttaca
      181 ccaaaagcag cagctctgat gaggagtaca tttatatgaa caaagtgacc atcaacaagc
      241 aacagaatgc agagtctcaa ggcaaagcgc ctgaggagca gggcctgcta cccaatgggg
      301 agcccagcca gcactcctcg gcccctcaga agagccttcc agacctcccg ccacccaaga
      361 tgattccaga acggaaacag cttgccatcc caaagacgga gtctccagag ggctactatg
      421 aagaggctga gccatatgac acatccctca atgaggacgg agaggctgtg agcagctcct
      481 acgagtccta cgatgaagag gacggcagca agggcaagtc ggccccttac cagtggccct
      541 cgccggaggc cggcatcgag ctgatgcgtg acgcccgcat ctgcgccttc ctgtggcgca
      601 agaagtggct gggacagtgg gccaagcagc tctgtgtcat caaggacaac aggcttctgt
      661 gctacaaatc ctccaaggac cacagccctc agctggacgt gaacctactg ggcagcagcg
      721 tcattcacaa ggagaagcaa gtgcggaaga aggagcacaa gctgaagatc acgccgatga
      781 atgccgatgt gattgtgctg ggcctgcaga gcaaggacca ggctgagcag tggctcaggg
      841 tcatccagga agtgagcggc ctgccttccg aaggagcatc tgaaggaaac cagtacaccc
      901 cggatgccca gcgctttaac tgccagaaac cagatatagc tgagaagtac ctgtcggctt
      961 cagagtatgg gagctccgtg gatggccacc ctgaggtccc agaaaccaaa gacgtcaaga
     1021 agaaatgttc tgctggcctc aaactgagca acctaatgaa tctgggcagg aagaaatcca
     1081 cctcactgga gcctgtggag aggtccctcg agacatccag ttacctgaac gtgctggtga
     1141 acagccagtg gaagtctcgc tggtgctctg tcagggacaa tcacctgcac ttctaccagg
     1201 accggaaccg gagcaaggtg gcccagcaac ccctcagcct ggtgggctgc gaggtggtcc
     1261 cagaccccag ccccgaccac ctctactcct tccgcatcct ccacaagggc gaggagctgg
     1321 ccaagcttga ggccaagtct tccgaggaaa tgggccactg gctgggtctc ctgctctctg
     1381 agtcaggctc caagacagac ccagaagagt tcacctacga ctatgtggat gccgataggg
     1441 tctcctgtat tgtgagtgcg gccaaaaact ctctcttact gatgcagaga aagttctcag
     1501 agcccaacac ttacatcgat ggcctgccta gccaggaccg ccaggaggag ctgtatgacg
     1561 acgtggacct gtcagagctc acagctgcgg tggagcctac cgaggaagcc acccctgttg
     1621 cagatgaccc aaatgagaga gaatctgacc gagtgtacct ggacctcaca cctgtcaagt
     1681 cctttctgca tggccccagc agtgcacagg cccaggcctc ctccccgacg ttgtcctgcc
     1741 tggacaatgc aactgaggcc ctcccggcag actcaggccc aggtcccacc ccagatgagc
     1801 cctgcataaa gtgtccagag aacctgggag aacagcagct ggagagtttg gagccagagg
     1861 atccttccct gagaatcacc accgtcaaaa tccagacgga acagcagaga atctccttcc
     1921 caccgagctg cccggatgcc gtggtggcca ccccacctgg tgccagccca cctgtgaagg
     1981 acaggttgcg cgtgaccagt gcagagatca agcttggcaa gaatcggaca gaagctgagg
     2041 tgaagcggta cacagaggag aaggagaggc ttgaaaagaa gaaggaagaa atccgggggc
     2101 acctggctca gctccggaaa gagaaacggg agctaaagga aaccctactg aaatgcacag
     2161 acaaggaagt cctggcgagc ctggagcaga agctgaagga aattgacgag gagtgccggg
     2221 gcgaggagag caggcgcgtg gacctggagc tcagcatcat ggaggtgaag gacaacctga
     2281 agaaggctga ggcagggcct gtgacgttag gcaccaccgt ggacaccacc cacctggaga
     2341 atgtgagccc ccgccccaaa gctgtcacac ctgcctctgc cccagactgt accccagtca
     2401 actctgcaac cacactcaag aacaggcctc tctcggtcgt ggtcacaggc aaaggcactg
     2461 tactccagaa agccaaggaa tgggagaaga aaggagcaag ttagaaaaca agcttcatct
     2521 aaagactctc atgtcaatgt ggaccttggt gacaatcctg ctttgttaaa gcaaaaacta
     2581 tgcgaaaggg tgagtctgtt tagaagaaaa agcaaagact gaggtactgt gaatggagag
     2641 cttcagctaa gaggaggctc tgtccctttt cagagccaaa ggaaataata caacaaaaag
     2701 gaggcttctt tggagaccta agtctattgg atgtaaacaa gacgttgtat ttagggatgt
     2761 tctgtgtttc tttctttttt gaagttgtca tcaattgctt tactaagatt tttaaatagt
     2821 gaaaacctcc tgtttagact ttggtggaag atgaatcaag gaagcagggc cctgtcttat
     2881 gggtcacgtg tctttggtga gtgagaagac ctaaactcct ggccatcatc tcttatccaa
     2941 tacttagcag ttggggatta aaccatcctt gccttcagtt ctctccaata ttaccaggcc
     3001 caactcagtc ttcagtgatt ttaaacagca ttgacatcat ctgtaaaacc atcatctgta
     3061 aaaccatcta tgacatgagt tttgagaaac aataatgggg aaaatatttg ggaccaagct
     3121 gaagcactaa tcccactaag ttaaagactt ctttccagtc caaggcaggc ctgaatcaac
     3181 tgtctttaaa taaaatttta agtgatgctg tattatatat aggaaaaaat gcttaaaatc
     3241 ctgtcattta gaacagtgaa aagtatcttt tgagattaaa gtgactcttt actgtaggaa
     3301 aaatattact ctgtgtttac agattcattg ctgtggtcag gccattttta agggaagagt
     3361 tatttaatat aaatagtctc tgattttaag ttctgtttaa tgttcattct ccttccaaga
     3421 acaaagtggt gatttttggt tagggtgatc gccctcttaa aattggcagt gctgttcctt
     3481 gtgctgcccc tgtcttttcc tctgatggca tttttttttt ttttttttta acacaggttg
     3541 aaacatttca tctattatct ctgcctcatt tctggagggt tgtgtatcag ttctctaaca
     3601 cttgttcctg agaactaaat gtctttttta ttcttatttc ctctctcata aacatttggt
     3661 gaccttttac caagtggtga gttagttagg ttttttaaaa taaaatgttc attgtatttg
     3721 aa
//
LOCUS       NM_001001952             942 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily D member 18
            (OR5D18), mRNA.
ACCESSION   NM_001001952
VERSION     NM_001001952.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 942)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 942)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136925.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000333976.7/ ENSP00000335025.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065781.1.
            On Oct 7, 2004 this sequence version replaced XM_166879.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..942
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..942
                     /gene="OR5D18"
                     /gene_synonym="OR11-143"
                     /note="olfactory receptor family 5 subfamily D member 18"
                     /db_xref="GeneID:219438"
                     /db_xref="HGNC:HGNC:15285"
     CDS             1..942
                     /gene="OR5D18"
                     /gene_synonym="OR11-143"
                     /note="olfactory receptor OR11-143; olfactory receptor
                     OR11-152"
                     /codon_start=1
                     /product="olfactory receptor 5D18"
                     /protein_id="NP_001001952.1"
                     /db_xref="CCDS:CCDS31510.1"
                     /db_xref="GeneID:219438"
                     /db_xref="HGNC:HGNC:15285"
                     /translation="MLLTDRNTSGTTFTLLGFSDYPELQVPLFLVFLAIYNVTVLGNIG
                     LIVIIKINPKLHTPMYFFLSQLSFVDFCYSSIIAPKMLVNLVVKDRTISFLGCVVQFFF
                     FCTFVVTESFLLAVMAYDRFVAICNPLLYTVNMSQKLCVLLVVGSYAWGVSCSLELTCS
                     ALKLCFHGFNTINHFFCEFSSLLSLSCSDTYINQWLLFFLATFNEISTLLIVLTSYAFI
                     VVTILKMRSVSGRRKAFSTCASHLTAITIFHGTILFLYCVPNSKNSRHTVKVASVFYTV
                     VIPMLNPLIYSLRNKDVKDTVTEILDTKVFSY"
     misc_feature    19..21
                     /gene="OR5D18"
                     /gene_synonym="OR11-143"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGL1.1); glycosylation site"
     misc_feature    79..141
                     /gene="OR5D18"
                     /gene_synonym="OR11-143"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL1.1);
                     transmembrane region"
     misc_feature    166..228
                     /gene="OR5D18"
                     /gene_synonym="OR11-143"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL1.1);
                     transmembrane region"
     misc_feature    301..363
                     /gene="OR5D18"
                     /gene_synonym="OR11-143"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL1.1);
                     transmembrane region"
     misc_feature    421..483
                     /gene="OR5D18"
                     /gene_synonym="OR11-143"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL1.1);
                     transmembrane region"
     misc_feature    592..654
                     /gene="OR5D18"
                     /gene_synonym="OR11-143"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL1.1);
                     transmembrane region"
     misc_feature    715..777
                     /gene="OR5D18"
                     /gene_synonym="OR11-143"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL1.1);
                     transmembrane region"
     misc_feature    817..879
                     /gene="OR5D18"
                     /gene_synonym="OR11-143"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL1.1);
                     transmembrane region"
ORIGIN
        1 atgctgctga ctgatagaaa tacaagtggg accacgttca ccctcttggg cttctcagat
       61 tacccagaac tgcaagtccc actcttcctg gtttttctgg ccatctacaa tgtcactgtg
      121 ctagggaata ttgggttgat tgtgatcatc aaaatcaacc ccaaactgca tacccccatg
      181 tactttttcc tcagccaact ctcctttgtg gatttctgct attcctccat cattgctccc
      241 aagatgttgg tgaaccttgt tgtcaaagac agaaccattt catttttagg atgcgtagta
      301 caattctttt tcttctgtac ctttgtggtc actgaatcct ttttattagc tgtgatggcc
      361 tatgaccgct tcgtggccat ttgcaaccct ctgctctaca cagttaacat gtcccagaaa
      421 ctctgcgtgc tgctggttgt gggatcctat gcctggggag tctcatgttc cttggaactg
      481 acgtgctctg ctttaaagtt atgttttcat ggtttcaaca caatcaatca cttcttctgt
      541 gagttctcct cactactctc cctttcttgc tctgatactt acatcaacca gtggctgcta
      601 ttctttcttg ccacctttaa tgaaatcagc acactactca tcgttctcac atcttatgcg
      661 ttcattgttg taaccatcct caagatgcgt tcagtcagtg ggcgccgcaa agccttctcc
      721 acctgtgcct cccacctgac tgccatcacc atcttccatg gcaccatcct cttcctttac
      781 tgtgtgccca actccaaaaa ctccaggcac acagtcaaag tggcctctgt gttttacacc
      841 gtggtgatcc ccatgttgaa tcccctgatc tacagtctga gaaataaaga tgtcaaggat
      901 acagtcaccg agatactgga caccaaagtc ttctcttact ga
//
LOCUS       NM_001001953             936 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily G member 9
            (OR10G9), mRNA.
ACCESSION   NM_001001953
VERSION     NM_001001953.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 936)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375024.1/ ENSP00000364164.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AP001884.4.
            On Aug 30, 2004 this sequence version replaced XM_166777.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..936
                     /gene="OR10G9"
                     /gene_synonym="OR10G10P"
                     /note="olfactory receptor family 10 subfamily G member 9"
                     /db_xref="GeneID:219870"
                     /db_xref="HGNC:HGNC:15129"
     CDS             1..936
                     /gene="OR10G9"
                     /gene_synonym="OR10G10P"
                     /note="olfactory receptor OR11-272; olfactory receptor
                     10G10"
                     /codon_start=1
                     /product="olfactory receptor 10G9"
                     /protein_id="NP_001001953.1"
                     /db_xref="CCDS:CCDS31703.1"
                     /db_xref="GeneID:219870"
                     /db_xref="HGNC:HGNC:15129"
                     /translation="MSKTSLVTAFILTGLPHAPGLDAPLFGIFLVVYVLTVLGNLLILL
                     VIRVDSHLHTPMYYFLTNLSFIDMWFSTVTVPKMLMTLVSPSGRAISFHSCVAQLYFFH
                     FLGSTECFLYTVMSYDRYLAISYPLRYTSMMSGSRCALLATSTWLSGSLHSAVQTILTF
                     HLPYCGPNQIQHYLCDAPPILKLACADTSANEMVIFVDIGLVASGCFLLIVLSYVSIVC
                     SILRIHTSEGRHRAFQTCASHCIVVLCFFVPCVFIYLRPGSRDVVDGVVAIFYTVLTPL
                     LNPVVYTLRNKEVKKAVLKLRDKVAHSQGE"
     misc_feature    70..132
                     /gene="OR10G9"
                     /gene_synonym="OR10G10P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN4.1);
                     transmembrane region"
     misc_feature    157..219
                     /gene="OR10G9"
                     /gene_synonym="OR10G10P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN4.1);
                     transmembrane region"
     misc_feature    295..357
                     /gene="OR10G9"
                     /gene_synonym="OR10G10P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN4.1);
                     transmembrane region"
     misc_feature    415..477
                     /gene="OR10G9"
                     /gene_synonym="OR10G10P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN4.1);
                     transmembrane region"
     misc_feature    589..648
                     /gene="OR10G9"
                     /gene_synonym="OR10G10P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN4.1);
                     transmembrane region"
     misc_feature    709..771
                     /gene="OR10G9"
                     /gene_synonym="OR10G10P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN4.1);
                     transmembrane region"
     misc_feature    805..867
                     /gene="OR10G9"
                     /gene_synonym="OR10G10P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN4.1);
                     transmembrane region"
ORIGIN
        1 atgtccaaga ccagcctcgt gacagcgttc atcctcacgg gccttcccca tgccccaggg
       61 ctggacgccc cactctttgg aatcttcctg gtggtttacg tgctcactgt gctggggaac
      121 ctcctcatcc tgctggtgat cagggtggat tctcacctcc acacccccat gtactacttc
      181 ctcaccaacc tgtccttcat tgacatgtgg ttctccactg tcacggtgcc caaaatgctg
      241 atgaccttgg tgtccccaag cggcagggct atctccttcc acagctgcgt ggctcagctc
      301 tattttttcc acttcctggg gagcaccgag tgtttcctct acacagtcat gtcctatgat
      361 cgctacttgg ccatcagtta cccgctcagg tacaccagca tgatgagtgg gagcagatgt
      421 gccctcctgg ccaccagcac ttggctcagt ggctctctgc actctgctgt ccagaccata
      481 ttgactttcc atttgcccta ctgtggaccc aaccagatcc agcactattt gtgtgatgca
      541 ccgcccatcc tgaaactggc ctgtgcagac acctcagcca acgagatggt catctttgtg
      601 gacattgggc tagtggcctc gggctgcttt ctcctgatag tgctgtctta tgtgtccatc
      661 gtctgttcca tcctgcggat ccacacctca gaggggaggc acagagcctt tcagacctgt
      721 gcctcccact gcatcgtggt cctttgcttt tttgttccct gtgttttcat ttacctgaga
      781 ccaggctcca gggacgtcgt ggatggagtt gtggccattt tctacactgt gctgacaccc
      841 cttctcaacc ctgttgtgta caccctgaga aacaaggagg tgaagaaagc tgtgttgaaa
      901 ctgagagaca aagtagcaca ttctcaggga gaataa
//
LOCUS       NM_001001954            6319 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily A member 2
            (OR5A2), mRNA.
ACCESSION   NM_001001954
VERSION     NM_001001954.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6319)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 6319)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302040.6/ ENSP00000303834.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003778.3.
            On Aug 5, 2020 this sequence version replaced NM_001001954.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..6319
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..6319
                     /gene="OR5A2"
                     /note="olfactory receptor family 5 subfamily A member 2"
                     /db_xref="GeneID:219981"
                     /db_xref="HGNC:HGNC:15249"
     misc_feature    308..310
                     /gene="OR5A2"
                     /note="upstream in-frame stop codon"
     CDS             335..1309
                     /gene="OR5A2"
                     /note="olfactory receptor OR11-248"
                     /codon_start=1
                     /product="olfactory receptor 5A2"
                     /protein_id="NP_001001954.1"
                     /db_xref="CCDS:CCDS31560.1"
                     /db_xref="GeneID:219981"
                     /db_xref="HGNC:HGNC:15249"
                     /translation="MAVGRNNTIVTKFILLGLSDHPQMKIFLFMLFLGLYLLTLAWNLS
                     LIALIKMDSHLHMPMYFFLSNLSFLDICYVSSTAPKMLSDIITEQKTISFVGCATQYFV
                     FCGMGLTECFLLAAMAYDRYAAICNPLLYTVLISHTLCLKMVVGAYVGGFLSSFIETYS
                     VYQHDFCGPYMINHFFCDLPPVLALSCSDTFTSEVVTFIVSVVVGIVSVLVVLISYGYI
                     VAAVVKISSATGRTKAFSTCASHLTAVTLFYGSGFFMYMRPSSSYSLNRDKVVSIFYAL
                     VIPVVNPIIYSFRNKEIKNAMRKAMERDPGISHGGPFIFMTLG"
     misc_feature    350..352
                     /gene="OR5A2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGI9.1); glycosylation site"
     misc_feature    413..475
                     /gene="OR5A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI9.1);
                     transmembrane region"
     misc_feature    500..562
                     /gene="OR5A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI9.1);
                     transmembrane region"
     misc_feature    635..697
                     /gene="OR5A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI9.1);
                     transmembrane region"
     misc_feature    737..799
                     /gene="OR5A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI9.1);
                     transmembrane region"
     misc_feature    926..988
                     /gene="OR5A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI9.1);
                     transmembrane region"
     misc_feature    1049..1111
                     /gene="OR5A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI9.1);
                     transmembrane region"
     misc_feature    1151..1213
                     /gene="OR5A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI9.1);
                     transmembrane region"
ORIGIN
        1 ataatgaact cccacagccc atttatttgg aagacttgtt aacaaaggag cggagattcc
       61 agaagcatgg tttactattt acatgaggcc aaagcataag aaattgatgg aacgagaaac
      121 cagccatgga gcagtgggaa atgcagatga tctggtttgc aaaagatgtt atggcaacaa
      181 agcaatcaat atttcttctc ttgtagcaca agattgcagg acccttctgc ccaatgcaat
      241 ccagaaatac ccactcttac aataacaaac aaaatctagc tgaccacagg attcttaaag
      301 aagaaagtaa agactttatg caggaagcag gcctatggct gtaggaagga acaacacaat
      361 tgtgacaaaa ttcattctcc tgggactttc agaccatcct caaatgaaga ttttcctttt
      421 catgttattt ctggggctct acctcctgac gttggcctgg aacttaagcc tcattgccct
      481 cattaagatg gactctcacc tgcacatgcc catgtacttc ttcctcagta acctgtcctt
      541 cctggacatc tgctatgtgt cctccaccgc ccctaagatg ctgtctgaca tcatcacaga
      601 gcagaaaacc atttcctttg ttggctgtgc cactcagtac tttgtcttct gtgggatggg
      661 gctgactgaa tgctttctcc tggcagctat ggcctatgac cggtatgctg caatctgcaa
      721 ccccttgctt tacacagtcc tcatatccca tacactttgt ttaaagatgg tggttggcgc
      781 ctatgtgggt ggattcctta gttctttcat tgaaacatac tctgtctatc agcatgattt
      841 ctgtgggccc tatatgatca accacttttt ctgtgacctc cctccagtcc tggctctgtc
      901 ctgctctgat accttcacca gcgaggtggt gaccttcata gtcagtgttg tcgttggaat
      961 agtgtctgtg ctagtggtcc tcatctctta tggttacatt gttgctgctg ttgtgaagat
     1021 cagctcagct acaggtagga caaaggcctt cagcacttgt gcctctcacc tgactgctgt
     1081 gaccctcttc tatggttctg gattcttcat gtacatgcga cccagttcca gctactccct
     1141 aaacagggac aaggtggtgt ccatattcta tgccttggtg atccccgtgg tgaatcccat
     1201 catctacagt tttaggaata aggagattaa aaatgccatg aggaaagcca tggaaaggga
     1261 ccccgggatt tctcacggtg gaccattcat ttttatgacc ttgggctaat gtttacaatg
     1321 aagctgtgag ctaggtgaat tgtgcagaca tttacataat tttaaactag ttgatctata
     1381 gaatgaattg tgggaatcag gcttttttcc ctcctgctta agatttcact aatagtttgc
     1441 ctgttggcta ttagaaaaca ttttggccat tgttgcttgt aaaatgaata gcattgtata
     1501 gtttgagatt ttaaatgctc tgcctagcag aaaacttcat catgacaaaa aacatcctgg
     1561 aatgttaaaa cagagtttgt atgtatagga ggaaagtcat cgaaaaaatg ttagtccagc
     1621 atttagtgtg gtgatattta aggtacaaca tggtataatg acctgaagag gatgatgttt
     1681 tttctaaaca cagttgcctt tccctcttct gagattctca aatggtttcc ttagagctca
     1741 tgaaaaccac agggcagata ccttcccatg tttcagaatc atggccatag gagcccctgt
     1801 gactgatggg agagttttca tactctttag aggcattaag gcaataattc tgatttgggc
     1861 cttgatagaa tttggatatt tgtccccatt cacatctcat gtttaattgc aatctccagt
     1921 gctggaggtg gggcctggtg ggaggtgttt gaatctatgg gggtggatct ctcatgggtt
     1981 ggtgttgtat tcatgatagt gagttcttgt gagatctggt catttaaaag tgtgtagcac
     2041 tcccaccaat cccctgccac tttctctctc ctctcactct gcctctctct cttgctcctg
     2101 cttttgtcat gtgatgtacc tgctccccct ttgccttctg ccatgattgt aagtttcctg
     2161 aggcctccct agaagctaag ctgatgccag caccatgctt cctgtaaagc ctgaagaact
     2221 gtgagccaat taaatctctt tatgaattac ctagcctaag gaatattttt atagcagtgc
     2281 aagaacagta ggccttaatg actgaacaaa aaacctctcg gccaattcaa tcaactacaa
     2341 aaagaggcca ctaaaacaat ttgaataaaa ccaaggaatt attgcttaag cccaaagtga
     2401 cagctttcta actgacaatt aaagtttctt aggaatctaa agagaagcat acgctcattt
     2461 gggatgaaaa gttctctatt tttaccaggg ctgtgattaa ttctggaaga gaacttagcc
     2521 aaagaattga agaaaatgat ttttctcctc tacattttct tagaacttgt tatgtatcct
     2581 tgaactggca ttaaagaact agaataaatt cattcagctg tggcctttct tgggtaggct
     2641 ataaataagt gagtaaataa tatctgcctg tgtgtcttta ggcaagttgc ttggactcta
     2701 ggtgcctcag atcctaacca taaaatggaa attataatag taattttatc ctaggactat
     2761 tgtgaagaat taaatgagtc agtacatgta aatacttaga atactgcatt gtgaatagaa
     2821 aatgtcccag aggtgctatt actattatta ttattatata atgcttaatc attatccaaa
     2881 tagaagaaat agaagagatt tccttagttt ggtaggaaat gtaatttttg caatggcttt
     2941 attgcattag aaagaggata tggagggact tttgcaaaga gggttaagaa tattcacttt
     3001 taagtcattg gatctgagat tattaatttc atctctgcca ttttgtaggt acatagcctg
     3061 atccaagtta tttagaaact ctgttttcct catctgtagc tacctgagga ctaagctctg
     3121 atttttttta tcttgcccaa attcctttct aaggggtctg gggagtcatg ccctgcaaac
     3181 cataaattct cattagatgg gttttattta acaccatata cagtgactta ctttacaatc
     3241 tgactgtagc ataacaagga agaaaatcaa aatgttttac acaaaaatat atttccttga
     3301 cataccttga aattgccttg caaagtctct tgtgggaaaa atccacattc tatagagaat
     3361 cccctctcca ctttgttttc cttccttcct tccctgatct aggagataat caactaagag
     3421 ccaggcaccc ttttaagtct gataagaaac aatttacaac ctgctctctc tgaagtctgc
     3481 tgtctgagag cttcttctgc acaataaaac ttggtctcca caatccttta ccttaacctg
     3541 aacatttctt tccattaatc ccaggtcttc agacgaactc aaccaattgt ctgccagaaa
     3601 atgtttaaat ttacccatag cctggaagtc tccaatttga gttgtcccgc ctttctgaac
     3661 gaaaccaatg tatttcttaa atgtatttga ttgatgtatc atgcttccct aaaatatata
     3721 aaaccaagct gtaccccgac caccttgggc gaatattctc aggaccttct gacggctgtg
     3781 ttgcgggcca tggttactca tatttggctc agaataaatc tcttcaaata ttttacagag
     3841 tttgactctt tttgtcaaca taccccataa aattgataca acaattaagt gagaatatgc
     3901 ataaagaggg cttagcccag tgcctggcat atggtaatac ttagtacagg ttagcttaca
     3961 ttattagtca atatttttac tcagttttat ataagtcaag gaaaatccgg gtaatgtgtt
     4021 aaaaagagac caaagaaata agtttagggt atccactcca attgagacat atcagtctca
     4081 gccaacaggt gcacccatat tactatctct atgatttctc ttgcatatca gaagcagttc
     4141 ttagggaact agagcgggct caggttcaca gctgtggcca ttttgccaac tctatcagct
     4201 acctggatgc ctctccccct tttccttata gctatttttt ttcctccacc attcttgacc
     4261 tgtactctaa ctcaccaagc tcctatcctt cagtttatca attttcaaaa tggtagtcat
     4321 tgaagcgaca caattaacta atgaaaatgt ctcatgcttt ggatttacat ggagctatta
     4381 tcaatcttta ccatctctaa acttttttga tgaacagaga ttctgaataa aaagtcttca
     4441 taaaaatttt tcttgttcaa tcacatatat atctacgagt aatggtaaat ttctcattgc
     4501 actgagaaga tataaggtat ttttgcagtt tgcccaacta ccaagaagaa tgtaagtctt
     4561 attaatagaa ttaatatgca ttaattgtaa tacataagat ggagattggt tgtaagactt
     4621 gaatgtttgg gggtatacag taagccacat gttaaatatt tcctaaacaa gtgtatttat
     4681 tatggggcat ataatcagac acacattaaa cagaatattt tgggccctta aggaatcagg
     4741 cattttatag ccatttgaag gaggaggagg tgaaactctt tcctgggagg gctagctagc
     4801 tggagataga attcacttta gtaaaattac catcatctag ggtgtggcac tcatgtttgc
     4861 aacttccaaa aatcttttcc agatggactg aagttaacca agctcagaat agctatctgc
     4921 ataagccaga atgacagatt taattttcag tgaagaacaa agctgccaag cttgaactta
     4981 cgccagtggc acaattatcc atctgtcagg aagccatata gaaagacaaa ttacaatgaa
     5041 aagtctattt ggagagaaag ggatcacagc aaagctgata aagtggatca gttcctgata
     5101 cacccagcta gagggtccag atcggctgag gccctgggca agggcactac caatttttct
     5161 ccccaagcat tccttttcct ttcttccaag atgactgtcc tcccttctaa tcaatattta
     5221 tagattgatg aacttacagc ttttcctact tttggtctaa gaaatatata tttttttctc
     5281 taaaatgctt ctgtgacaca atttacacac agagagtgcg tagtgaaacc acgggctgat
     5341 tttatggttt aagtgttaga gttttgtaga caccttgttg ttgtcctatg caccatcaac
     5401 attcacttac tttttttctt tgtaggtaca tgtaattatg cacactcatg aattaatgag
     5461 tgatgcatta aaggagctct gatgagatgc ttaacatttt tctaaagatg aatagtctta
     5521 tgtttctagt cttaaacctt cacaaaccta gagcttgcct actctgtgat catccacaga
     5581 aatgaggaat catttgtatt tcacttgctt gtgtctagat aatgaatctg gatctccctg
     5641 acataaaagc aagcaggggc aacctgacta tcttgcatgt aaggtgatac gccatgtatg
     5701 ccagcacgtt cttccatcag cttgatccgt gactacctcc ctgatttcct ggtgacttgt
     5761 cctcatgtct ataacatttt caaaccccct ggggatgata agccaggtgt ttatattgac
     5821 ctttgctgcc tttattctac cctctctctt cttgtgtttc tctctcccct tatgctggtt
     5881 aagacctcct atatgtaata ctgcttgtgg gcctggccag ggataagagt tcactctttt
     5941 gtacaggcaa ataaatagcc acaccggtct cttgcattca tggcttggaa cttttacaaa
     6001 ctagatatag cagcatctct cttcagaatt gccagaccaa atggctggca gtatctagtt
     6061 gaagagacta accgcacact ttgggtggga ccacattcta taaataaacc ggcagctggg
     6121 acccggggag acctcataga aaaacagaga attcatcttg tgttcaaagc cacgttcttc
     6181 tgagatggaa ctatgatgtc aaactagact taaatgtcag catgcataga aaaattggca
     6241 tgcataaagt atcactttga tattgtatgg tatattcttg tttgttctaa taaaacatct
     6301 ttcttatgca aaaagaggc
//
LOCUS       NM_001001955            1029 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily C member 13
            (OR4C13), mRNA.
ACCESSION   NM_001001955
VERSION     NM_001001955.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1029)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 1029)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC137005.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000555099.1/ ENSP00000452277.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP006587.1.
            On Jan 21, 2010 this sequence version replaced NM_001001955.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1029
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.12"
     gene            1..1029
                     /gene="OR4C13"
                     /note="olfactory receptor family 4 subfamily C member 13"
                     /db_xref="GeneID:283092"
                     /db_xref="HGNC:HGNC:15169"
     CDS             33..962
                     /gene="OR4C13"
                     /note="olfactory receptor OR11-260"
                     /codon_start=1
                     /product="olfactory receptor 4C13"
                     /protein_id="NP_001001955.2"
                     /db_xref="CCDS:CCDS31495.1"
                     /db_xref="GeneID:283092"
                     /db_xref="HGNC:HGNC:15169"
                     /translation="MANRNNVTEFILLGLTENPKMQKIIFVVFSVIYINAMIGNVLIVV
                     TITASPSLRSPMYFFLAYLSFIDACYSSVNTPKLITDSLYENKTILFNGCMTQVFGEHF
                     FRGVEVILLTVMAYDHYVAICKPLHYTTVMKQHVCSLLVGVSWVGGFLHATIQILFICQ
                     LPFCGPNVIDHFMCDLYTLINLACTNTHTLGLFIAANSGFICLLNCLLLLVSCVVILYS
                     LKTHSLEARHEALSTCVSHITVVILSFIPCIFVYMRPPATLPIDKAVAVFYTMITSMLN
                     PLIYTLRNAQMKNAIRKLCSRKAISSVK"
     misc_feature    48..50
                     /gene="OR4C13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGP0.2); glycosylation site"
     misc_feature    102..173
                     /gene="OR4C13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP0.2);
                     transmembrane region"
     misc_feature    198..263
                     /gene="OR4C13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP0.2);
                     transmembrane region"
     misc_feature    291..293
                     /gene="OR4C13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGP0.2); glycosylation site"
     misc_feature    327..386
                     /gene="OR4C13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP0.2);
                     transmembrane region"
     misc_feature    444..500
                     /gene="OR4C13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP0.2);
                     transmembrane region"
     misc_feature    612..683
                     /gene="OR4C13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP0.2);
                     transmembrane region"
     misc_feature    732..800
                     /gene="OR4C13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP0.2);
                     transmembrane region"
     misc_feature    834..893
                     /gene="OR4C13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP0.2);
                     transmembrane region"
ORIGIN
        1 caggtaatgt aattaaccat catttgaaat acatggcgaa tagaaacaat gtgacagagt
       61 ttattctatt ggggcttaca gagaatccaa aaatgcagaa aatcatattt gttgtgtttt
      121 ctgtcatcta catcaacgcc atgataggaa atgtgctcat tgtggtcacc atcactgcca
      181 gcccatcact gagatccccc atgtactttt tcctggccta tctctccttt attgatgcct
      241 gctattcctc tgtcaatacc cctaagctga tcacagattc actctatgaa aacaagacta
      301 tcttattcaa tggatgtatg actcaagtct ttggagaaca ttttttcaga ggtgttgagg
      361 tcatcctact tactgtaatg gcctatgacc actatgtggc catctgcaag cccttgcact
      421 ataccaccgt catgaagcag catgtttgta gcctgctagt gggagtgtca tgggtaggag
      481 gctttcttca tgcaaccata cagatcctct tcatctgtca attacctttc tgtggtccta
      541 atgtcataga tcactttatg tgtgatctct acactttgat caatcttgcc tgcactaata
      601 cccacactct aggactcttc attgctgcca acagtgggtt catatgcctg ttaaactgtc
      661 tcttgctcct ggtctcctgc gtggtcatac tgtactcctt aaagacccac agcttagagg
      721 caaggcacga agccctctct acctgtgtct cccacatcac agttgtcatc ttatccttta
      781 taccctgcat atttgtgtac atgagacctc cagctacttt acccattgat aaagcagttg
      841 ctgtattcta cactatgata acttctatgt taaacccctt aatctacacc ttgaggaatg
      901 ctcaaatgaa aaatgccatt aggaaattgt gtagtaggaa agctatttca agtgtcaaat
      961 aaatgtgact ggagcccaac atgattcagc tgaggcaagg gtcaaaagga cattttgggt
     1021 aatgccagc
//
LOCUS       NM_001001956             957 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 13 subfamily C member 9
            (OR13C9), mRNA.
ACCESSION   NM_001001956
VERSION     NM_001001956.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 957)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 957)
  AUTHORS   Hoppe R, Breer H and Strotmann J.
  TITLE     Organization and evolutionary relatedness of OR37 olfactory receptor
            genes in mouse and human
  JOURNAL   Genomics 82 (3), 355-364 (2003)
   PUBMED   12906860
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259362.1/ ENSP00000259362.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL359846.11.
            On Aug 30, 2004 this sequence version replaced XM_210752.4.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..957
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..957
                     /gene="OR13C9"
                     /gene_synonym="OR37L; OR9-13"
                     /note="olfactory receptor family 13 subfamily C member 9"
                     /db_xref="GeneID:286362"
                     /db_xref="HGNC:HGNC:15104"
     CDS             1..957
                     /gene="OR13C9"
                     /gene_synonym="OR37L; OR9-13"
                     /note="olfactory receptor OR9-13"
                     /codon_start=1
                     /product="olfactory receptor 13C9"
                     /protein_id="NP_001001956.1"
                     /db_xref="CCDS:CCDS35093.1"
                     /db_xref="GeneID:286362"
                     /db_xref="HGNC:HGNC:15104"
                     /translation="MEWENQTILVEFFLKGHSVHPRLELLFFVLIFIMYVVILLGNGTL
                     ILISILDPHLHTPMYFFLGNLSFLDICYTTTSIPSTLVSFLSERKTISFSGCAVQMFLG
                     LAMGTTECVLLGMMAFDRYVAICNPLRYPIIMSKNAYVPMAVGSWFAGIVNSAVQTTFV
                     VQLPFCRKNVINHFSCEILAVMKLACADISGNEFLMLVATILFTLMPLLLIVISYSLII
                     SSILKIHSSEGRSKAFSTCSAHLTVVIIFYGTILFMYMKPKSKETLNSDDLDATDKIIS
                     MFYGVMTPMMNPLIYSLRNKDVKEAVKHLPNRRFFSK"
     misc_feature    13..15
                     /gene="OR13C9"
                     /gene_synonym="OR37L; OR9-13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGT0.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR13C9"
                     /gene_synonym="OR37L; OR9-13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT0.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR13C9"
                     /gene_synonym="OR37L; OR9-13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT0.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR13C9"
                     /gene_synonym="OR37L; OR9-13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT0.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR13C9"
                     /gene_synonym="OR37L; OR9-13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT0.1);
                     transmembrane region"
     misc_feature    592..651
                     /gene="OR13C9"
                     /gene_synonym="OR37L; OR9-13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT0.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR13C9"
                     /gene_synonym="OR37L; OR9-13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT0.1);
                     transmembrane region"
     misc_feature    832..894
                     /gene="OR13C9"
                     /gene_synonym="OR37L; OR9-13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT0.1);
                     transmembrane region"
ORIGIN
        1 atggaatggg aaaaccaaac cattctggtg gaattttttc tgaagggaca ttctgttcac
       61 ccaaggcttg agttactctt ttttgtgcta atcttcataa tgtatgtggt catccttctg
      121 gggaatggta ctctcatttt aatcagcatc ttggaccctc accttcacac ccctatgtac
      181 ttctttctgg ggaacctctc cttcttggac atctgctaca ccaccacctc tattccctcc
      241 acactagtga gcttcctttc agaaagaaag accatttcct tttctggctg tgcagtgcag
      301 atgttccttg gcttggccat ggggacaaca gagtgtgtgc ttctgggcat gatggccttt
      361 gaccgctatg tggctatctg caaccctctg agatatccca tcatcatgag caagaatgcc
      421 tatgtaccca tggctgttgg gtcctggttt gcagggattg tcaactctgc agtacaaact
      481 acatttgtag tacaattgcc tttctgcagg aagaatgtca tcaatcattt ctcatgtgaa
      541 attctagctg tcatgaagtt ggcctgtgct gacatctcag gcaatgagtt cctcatgctt
      601 gtggccacaa tattgttcac attgatgcca ctgctcttga tagttatctc ttactcatta
      661 atcatttcca gcatcctcaa gattcactcc tctgagggga gaagcaaagc tttctctacc
      721 tgctcagccc atctgactgt ggtcataata ttctatggga ccatcctctt catgtatatg
      781 aagcccaagt ctaaagagac acttaattca gatgacttgg atgctaccga caaaattata
      841 tccatgttct atggggtgat gactcccatg atgaatcctt taatctacag tcttagaaac
      901 aaggatgtga aagaggcagt aaaacaccta ccgaacagaa ggttctttag caagtga
//
LOCUS       NM_001001957             945 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily W member 3
            (OR2W3), mRNA.
ACCESSION   NM_001001957
VERSION     NM_001001957.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 945)
  AUTHORS   Huang J, Lam H, Koziol-White C, Limjunyawong N, Kim D, Kim N,
            Karmacharya N, Rajkumar P, Firer D, Dalesio NM, Jude J, Kurten RC,
            Pluznick JL, Deshpande DA, Penn RB, Liggett SB, Panettieri RA Jr,
            Dong X and An SS.
  TITLE     The odorant receptor OR2W3 on airway smooth muscle evokes
            bronchodilation via a cooperative chemosensory tradeoff between
            TMEM16A and CFTR
  JOURNAL   Proc Natl Acad Sci U S A 117 (45), 28485-28495 (2020)
   PUBMED   33097666
  REMARK    GeneRIF: The odorant receptor OR2W3 on airway smooth muscle evokes
            bronchodilation via a cooperative chemosensory tradeoff between
            TMEM16A and CFTR.
REFERENCE   2  (bases 1 to 945)
  AUTHORS   Melroy-Greif WE, Wilhelmsen KC, Yehuda R and Ehlers CL.
  TITLE     Genome-Wide Association Study of Post-Traumatic Stress Disorder in
            Two High-Risk Populations
  JOURNAL   Twin Res Hum Genet 20 (3), 197-207 (2017)
   PUBMED   28262088
  REMARK    GeneRIF: A signal in a nearby olfactory receptor on chromosome 1,
            olfactory receptor family 2 subfamily L member 13 (OR2L13), tagged
            by rs151319968, was nominally associated with PTSD in the AI sample.
            Although no variants were significantly associated after correction
            for multiple testing in a meta-analysis of the two cohorts, pathway
            analysis of the top hits showed an enrichment cluster of terms
            related to sensory transduction.
REFERENCE   3  (bases 1 to 945)
  AUTHORS   Noe F, Polster J, Geithe C, Kotthoff M, Schieberle P and Krautwurst
            D.
  TITLE     OR2M3: A Highly Specific and Narrowly Tuned Human Odorant Receptor
            for the Sensitive Detection of Onion Key Food Odorant
            3-Mercapto-2-methylpentan-1-ol
  JOURNAL   Chem Senses 42 (3), 195-210 (2017)
   PUBMED   27916748
  REMARK    GeneRIF: This outstanding specificity of extremely narrowly tuned
            human OR2M3 can explain both odor qualities and odor threshold trend
            within a homologous series of 3-mercapto-2-methylalkan-1-ols and
            suggests a modern human-specific, food-related function of OR2M3 in
            detecting a single onion key food odorant.
REFERENCE   4  (bases 1 to 945)
  AUTHORS   Sharon D, Kimchi A and Rivolta C.
  TITLE     OR2W3 sequence variants are unlikely to cause inherited retinal
            diseases
  JOURNAL   Ophthalmic Genet 37 (4), 366-368 (2016)
   PUBMED   26891008
  REMARK    GeneRIF: We therefore conclude that this sequence variant, and hence
            the OR2W3 gene, do not cause RP. Prompted by these findings and
            based on simple principles of population genetics, we suggest that
            WES studies should consider DNA variants as the possible cause of
            dominant RP only if they are present in less than 1:100,000
            individuals from the general population. Review article
REFERENCE   5  (bases 1 to 945)
  AUTHORS   Chihara M, Yoshihara K, Ishiguro T, Yokota Y, Adachi S, Okada H,
            Kashima K, Sato T, Tanaka A, Tanaka K and Enomoto T.
  TITLE     Susceptibility to male infertility: replication study in Japanese
            men looking for an association with four GWAS-derived loci
            identified in European men
  JOURNAL   J Assist Reprod Genet 32 (6), 903-908 (2015)
   PUBMED   25847845
  REMARK    GeneRIF: OR2W3 is associated with genetic susceptibility to Japanese
            male infertility.
REFERENCE   6  (bases 1 to 945)
  AUTHORS   Ma X, Guan L, Wu W, Zhang Y, Zheng W, Gao YT, Long J, Wu N, Wu L,
            Xiang Y, Xu B, Shen M, Chen Y, Wang Y, Yin Y, Li Y, Xu H, Xu X and
            Li Y.
  TITLE     Whole-exome sequencing identifies OR2W3 mutation as a cause of
            autosomal dominant retinitis pigmentosa
  JOURNAL   Sci Rep 5, 9236 (2015)
   PUBMED   25783483
  REMARK    GeneRIF: A novel missense mutation, c. 424 C > T transition
            (p.R142W) in OR2W3 gene, was identified as a potentially causative
            mutation for autosomal dominant Retinitis pigmentosa. Publication
            Status: Online-Only
REFERENCE   7  (bases 1 to 945)
  AUTHORS   Zhang Y, He XJ, Song B, Ye L, Xie XS, Ruan J, Zhou FS, Zuo XB, Cao
            YX and Du WD.
  TITLE     Association of single nucleotide polymorphisms in the USF1, GTF2A1L
            and OR2W3 genes with non-obstructive azoospermia in the Chinese
            population
  JOURNAL   J Assist Reprod Genet 32 (1), 95-101 (2015)
   PUBMED   25374392
  REMARK    GeneRIF: Our results provided a new insight into susceptibility of
            USF1 variant with male infertility. rs11204546 of OR2W3 and
            rs11677854 of GTF2A1L might be additional valuable molecular
            predictive markers
REFERENCE   8  (bases 1 to 945)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   9  (bases 1 to 945)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC146848.1, SRR1803615.412140.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000360358.3/ ENSP00000353516.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099571.3.
            On Jul 2, 2005 this sequence version replaced NM_001001957.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..945
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..945
                     /gene="OR2W3"
                     /gene_synonym="OR2W3P; OR2W8P; OST718"
                     /note="olfactory receptor family 2 subfamily W member 3"
                     /db_xref="GeneID:343171"
                     /db_xref="HGNC:HGNC:15021"
                     /db_xref="MIM:616729"
     CDS             1..945
                     /gene="OR2W3"
                     /gene_synonym="OR2W3P; OR2W8P; OST718"
                     /note="olfactory receptor, family 2, subfamily W, member 8
                     pseudogene; olfactory receptor, family 2, subfamily W,
                     member 3 pseudogene; olfactory receptor OR1-49; olfactory
                     receptor 2W8"
                     /codon_start=1
                     /product="olfactory receptor 2W3"
                     /protein_id="NP_001001957.2"
                     /db_xref="CCDS:CCDS31099.1"
                     /db_xref="GeneID:343171"
                     /db_xref="HGNC:HGNC:15021"
                     /db_xref="MIM:616729"
                     /translation="MDGTNGSTQTHFILLGFSDRPHLERILFVVILIAYLLTLVGNTTI
                     ILVSRLDPHLHTPMYFFLAHLSFLDLSFTTSSIPQLLYNLNGCDKTISYMGCAIQLFLF
                     LGLGGVECLLLAVMAYDRCVAICKPLHYMVIMNPRLCRGLVSVTWGCGVANSLAMSPVT
                     LRLPRCGHHEVDHFLREMPALIRMACVSTVAIEGTVFVLAVGVVLSPLVFILLSYSYIV
                     RAVLQIRSASGRQKAFGTCGSHLTVVSLFYGNIIYMYMQPGASSSQDQGMFLMLFYNIV
                     TPLLNPLIYTLRNREVKGALGRLLLGKRELGKE"
     misc_feature    13..15
                     /gene="OR2W3"
                     /gene_synonym="OR2W3P; OR2W8P; OST718"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q7Z3T1.2); glycosylation site"
     misc_feature    76..147
                     /gene="OR2W3"
                     /gene_synonym="OR2W3P; OR2W8P; OST718"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3T1.2);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR2W3"
                     /gene_synonym="OR2W3P; OR2W8P; OST718"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3T1.2);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR2W3"
                     /gene_synonym="OR2W3P; OR2W8P; OST718"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3T1.2);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR2W3"
                     /gene_synonym="OR2W3P; OR2W8P; OST718"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3T1.2);
                     transmembrane region"
     misc_feature    586..657
                     /gene="OR2W3"
                     /gene_synonym="OR2W3P; OR2W8P; OST718"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3T1.2);
                     transmembrane region"
     misc_feature    709..777
                     /gene="OR2W3"
                     /gene_synonym="OR2W3P; OR2W8P; OST718"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3T1.2);
                     transmembrane region"
     misc_feature    817..876
                     /gene="OR2W3"
                     /gene_synonym="OR2W3P; OR2W8P; OST718"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3T1.2);
                     transmembrane region"
ORIGIN
        1 atggatggaa ccaatggcag cacccaaacc catttcatcc tactgggatt ctctgaccga
       61 ccccatctgg agaggatcct ctttgtggtc atcctgatcg cgtacctcct gaccctcgta
      121 ggcaacacca ccatcatcct ggtgtcccgg ctggaccccc acctccacac ccccatgtac
      181 ttcttcctcg cccacctttc cttcctggac ctcagtttca ccaccagctc catcccccag
      241 ctgctctaca accttaatgg atgtgacaag accatcagct acatgggctg tgccatccag
      301 ctcttcctgt tcctgggtct gggtggtgtg gagtgcctgc ttctggctgt catggcctat
      361 gaccggtgtg tggctatctg caagcccctg cactacatgg tgatcatgaa ccccaggctc
      421 tgccggggct tggtgtcagt gacctggggc tgtggggtgg ccaactcctt ggccatgtct
      481 cctgtgaccc tgcgcttacc ccgctgtggg caccacgagg tggaccactt cctgcgtgag
      541 atgcccgccc tgatccggat ggcctgcgtc agcactgtgg ccatcgaagg caccgtcttt
      601 gtcctggcgg tgggtgttgt gctgtccccc ttggtgttta tcctgctctc ttacagctac
      661 attgtgaggg ctgtgttaca aattcggtca gcatcaggaa ggcagaaggc cttcggcacc
      721 tgcggctccc atctcactgt ggtctccctt ttctatggaa acatcatcta catgtacatg
      781 cagccaggag ccagttcttc ccaggaccag ggcatgttcc tcatgctctt ctacaacatt
      841 gtcacccccc tcctcaatcc tctcatctac accctcagaa acagagaggt gaagggggca
      901 ctgggaaggt tgcttctggg gaagagagag ctaggaaagg agtaa
//
LOCUS       NM_001001958             939 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 7 subfamily G member 3
            (OR7G3), mRNA.
ACCESSION   NM_001001958
VERSION     NM_001001958.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Choquette AC, Bouchard L, Drapeau V, Lemieux S, Tremblay A, Bouchard
            C, Vohl MC and Perusse L.
  TITLE     Association between olfactory receptor genes, eating behavior traits
            and adiposity: results from the Quebec Family Study
  JOURNAL   Physiol Behav 105 (3), 772-776 (2012)
   PUBMED   22044667
  REMARK    GeneRIF: The SNP in the OR7G3 gene (rs10414255) was found to be
            associated with adiposity and eating behaviors.
REFERENCE   2  (bases 1 to 939)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 939)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305444.2/ ENSP00000302867.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC011464.5.
            On Aug 30, 2004 this sequence version replaced XM_372709.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..939
                     /gene="OR7G3"
                     /gene_synonym="OST085"
                     /note="olfactory receptor family 7 subfamily G member 3"
                     /db_xref="GeneID:390883"
                     /db_xref="HGNC:HGNC:8467"
     CDS             1..939
                     /gene="OR7G3"
                     /gene_synonym="OST085"
                     /note="olfactory receptor OR19-9"
                     /codon_start=1
                     /product="olfactory receptor 7G3"
                     /protein_id="NP_001001958.1"
                     /db_xref="CCDS:CCDS32899.1"
                     /db_xref="GeneID:390883"
                     /db_xref="HGNC:HGNC:8467"
                     /translation="MKAGNFSDTPEFFLLGLSGDPELQPILFMLFLSMYLATMLGNLLI
                     ILAVNSDSHLHTPMYFLLSILSLVDICFTSTTMPKMLVNIQAQAQSINYTGCLTQICFV
                     LVFVGLENGILVMMAYDRFVAICHPLRYNVIMNPKLCGLLLLLSFIVSVLDALLHTLMV
                     LQLTFCIDLEIPHFFCELAHILKLACSDVLINNILVYLVTSLLGVVPLSGIIFSYTRIV
                     SSVMKIPSAGGKYKAFSICGSHLIVVSLFYGTGFGVYLSSGATHSSRKGAIASVMYTVV
                     TPMLNPLIYSLRNKDMLKALRKLISRIPSFH"
     misc_feature    13..15
                     /gene="OR7G3"
                     /gene_synonym="OST085"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NG95.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR7G3"
                     /gene_synonym="OST085"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG95.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR7G3"
                     /gene_synonym="OST085"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG95.1);
                     transmembrane region"
     misc_feature    277..279
                     /gene="OR7G3"
                     /gene_synonym="OST085"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NG95.1); glycosylation site"
     misc_feature    298..360
                     /gene="OR7G3"
                     /gene_synonym="OST085"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG95.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR7G3"
                     /gene_synonym="OST085"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG95.1);
                     transmembrane region"
     misc_feature    592..651
                     /gene="OR7G3"
                     /gene_synonym="OST085"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG95.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR7G3"
                     /gene_synonym="OST085"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG95.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR7G3"
                     /gene_synonym="OST085"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG95.1);
                     transmembrane region"
ORIGIN
        1 atgaaagcag gaaacttctc agacactcca gaattctttc tcttgggatt gtcaggggat
       61 ccggagctgc agcccatcct cttcatgctg ttcctgtcca tgtacctggc cacaatgctg
      121 gggaacctgc tcatcatcct ggccgtcaac tctgactccc acctccacac ccccatgtac
      181 ttcctcctct ctatcctgtc cttggtcgac atctgtttca cctccaccac gatgcccaag
      241 atgctggtga acatccaggc acaggctcaa tccatcaatt acacaggctg cctcacccaa
      301 atctgctttg tcctggtttt tgttggattg gaaaatggaa ttctggtcat gatggcctat
      361 gatcgatttg tggccatctg tcacccactg aggtacaatg tcatcatgaa ccccaaactc
      421 tgtgggctgc tgcttctgct gtccttcatc gttagtgtcc tggatgctct gctgcacacg
      481 ttgatggtgc tacagctgac cttctgcata gacctggaaa ttccccactt tttctgtgaa
      541 ctagctcata ttctcaagct cgcctgttct gatgtcctca tcaataacat cctggtgtat
      601 ttggtgacca gcctgttagg tgttgttcct ctctctggga tcattttctc ttacacacga
      661 attgtctcct ctgtcatgaa aattccatca gctggtggaa agtataaagc tttttccatc
      721 tgcgggtcac atttaatcgt tgtttccttg ttttatggaa cagggtttgg ggtgtacctt
      781 agttctgggg ctacccactc ctccaggaag ggtgcaatag catcagtgat gtataccgtg
      841 gtcaccccca tgctgaaccc actcatttac agcctgagaa acaaggacat gttgaaggct
      901 ttgaggaaac taatatctag gataccatct ttccattga
//
LOCUS       NM_001001959             969 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 11 subfamily L member 1
            (OR11L1), mRNA.
ACCESSION   NM_001001959
VERSION     NM_001001959.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 969)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   2  (bases 1 to 969)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC140753.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000355784.3/ ENSP00000348033.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC099571.3.
            On Aug 30, 2004 this sequence version replaced XM_372820.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..969
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..969
                     /gene="OR11L1"
                     /note="olfactory receptor family 11 subfamily L member 1"
                     /db_xref="GeneID:391189"
                     /db_xref="HGNC:HGNC:14998"
     CDS             1..969
                     /gene="OR11L1"
                     /note="olfactory receptor OR1-50"
                     /codon_start=1
                     /product="olfactory receptor 11L1"
                     /protein_id="NP_001001959.1"
                     /db_xref="CCDS:CCDS31098.1"
                     /db_xref="GeneID:391189"
                     /db_xref="HGNC:HGNC:14998"
                     /translation="MEPQNTSTVTNFQLLGFQNLLEWQALLFVIFLLIYCLTIIGNVVI
                     ITVVSQGLRLHSPMYMFLQHLSFLEVWYTSTTVPLLLANLLSWGQAISFSACMAQLYFF
                     VFLGATECFLLAFMAYDRYLAICSPLRYPFLMHRGLCARLVVVSWCTGVSTGFLPSLMI
                     SRLDFCGRNQINHFFCDLPPLMQLSCSRVYITEVTIFILSIAVLCICFFLTLGPYVFIV
                     SSILRIPSTSGRRKTFSTCGSHLAVVTLYYGTMISMYVCPSPHLLPEINKIISVFYTVV
                     TPLLNPVIYSLRNKDFKEAVRKVMRRKCGILWSTSKRKFLY"
     misc_feature    13..15
                     /gene="OR11L1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGX0.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR11L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX0.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR11L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX0.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR11L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX0.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR11L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX0.1);
                     transmembrane region"
     misc_feature    592..651
                     /gene="OR11L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX0.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR11L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX0.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR11L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX0.1);
                     transmembrane region"
ORIGIN
        1 atggagcccc aaaatacctc cactgtgact aactttcagc tgttaggatt ccagaacctt
       61 cttgaatggc aggccctgct ctttgtcatt ttcctgctca tctactgcct gaccattata
      121 gggaatgttg tcatcatcac cgtggtgagc cagggcctgc gactgcactc ccctatgtac
      181 atgttcctcc agcatctctc ctttctggag gtctggtaca cgtccaccac tgtgcccctt
      241 ctcctagcca acctgctgtc ctggggccaa gccatctcct tctctgcctg catggcacag
      301 ctctacttct tcgtattcct cggcgccacc gagtgctttc tcctggcctt catggcctat
      361 gaccgttacc tggccatctg cagcccactc cgctacccct tcctcatgca tcgtgggctc
      421 tgtgccaggt tggtggtggt ctcctggtgc acaggggtca gcacaggctt tctgccttcc
      481 ctgatgattt ccaggttgga cttctgtggg cgcaatcaga ttaaccattt cttctgcgac
      541 ctcccgccac tcatgcagct ctcctgttcc agagtttata tcaccgaggt gaccatcttc
      601 atcctgtcaa ttgccgtgct gtgcatttgt ttttttctga cactggggcc ctatgttttc
      661 attgtgtcct ccatattgag aatcccttcc acctctggcc ggagaaagac cttttccaca
      721 tgtggctccc acctggctgt tgtcactctc tactacggga ccatgatctc catgtatgtg
      781 tgtcccagtc cccacctgtt gcctgaaatc aacaagatca tttctgtctt ctacactgtg
      841 gtcacaccac tgctgaaccc agttatctac agcttgagga acaaagactt caaagaagct
      901 gttagaaagg tcatgagaag gaaatgtggt attctatgga gtacaagtaa aaggaagttc
      961 ctttattag
//
LOCUS       NM_001001960             933 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily W member 2
            (OR5W2), mRNA.
ACCESSION   NM_001001960
VERSION     NM_001001960.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 933)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 933)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000344514.1/ ENSP00000342448.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BK004398.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..933
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..933
                     /gene="OR5W2"
                     /gene_synonym="OR5W2P; OR5W3P"
                     /note="olfactory receptor family 5 subfamily W member 2"
                     /db_xref="GeneID:390148"
                     /db_xref="HGNC:HGNC:15299"
     CDS             1..933
                     /gene="OR5W2"
                     /gene_synonym="OR5W2P; OR5W3P"
                     /note="olfactory receptor, family 5, subfamily W, member 3
                     pseudogene; olfactory receptor OR11-155; olfactory receptor
                     5W3"
                     /codon_start=1
                     /product="olfactory receptor 5W2"
                     /protein_id="NP_001001960.1"
                     /db_xref="CCDS:CCDS31513.1"
                     /db_xref="GeneID:390148"
                     /db_xref="HGNC:HGNC:15299"
                     /translation="MDWENCSSLTDFFLLGITNNPEMKVTLFAVFLAVYIINFSANLGM
                     IVLIRMDYQLHTPMYFFLSHLSFCDLCYSTATGPKMLVDLLAKNKSIPFYGCALQFLVF
                     CIFADSECLLLSVMAFDRYKAIINPLLYTVNMSSRVCYLLLTGVYLVGIADALIHMTLA
                     FRLCFCGSNEINHFFCDIPPLLLLSRSDTQVNELVLFTVFGFIELSTISGVFISYCYII
                     LSVLEIHSAEGRFKALSTCTSHLSAVAIFQGTLLFMYFRPSSSYSLDQDKMTSLFYTLV
                     VPMLNPLIYSLRNKDVKEALKKLKNKILF"
     misc_feature    13..15
                     /gene="OR5W2"
                     /gene_synonym="OR5W2P; OR5W3P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH69.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR5W2"
                     /gene_synonym="OR5W2P; OR5W3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH69.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR5W2"
                     /gene_synonym="OR5W2P; OR5W3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH69.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR5W2"
                     /gene_synonym="OR5W2P; OR5W3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH69.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR5W2"
                     /gene_synonym="OR5W2P; OR5W3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH69.1);
                     transmembrane region"
     misc_feature    589..651
                     /gene="OR5W2"
                     /gene_synonym="OR5W2P; OR5W3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH69.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR5W2"
                     /gene_synonym="OR5W2P; OR5W3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH69.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR5W2"
                     /gene_synonym="OR5W2P; OR5W3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH69.1);
                     transmembrane region"
ORIGIN
        1 atggactggg aaaattgctc ctcattaact gatttttttc tcttgggaat taccaataac
       61 ccagagatga aagtgaccct atttgctgta ttcttggctg tttatatcat taatttctca
      121 gcaaatcttg gaatgatagt tttaatcaga atggattacc aacttcacac accaatgtat
      181 ttcttcctca gtcatctgtc tttctgtgat ctctgctatt ctactgcaac tgggcccaag
      241 atgctggtag atctacttgc caagaacaag tcaataccct tctatggctg tgctctgcaa
      301 ttcttggtct tctgtatctt tgcagattct gagtgtctac tgctgtcagt gatggccttt
      361 gatcggtaca aggccatcat caaccccctg ctctatacag tcaacatgtc tagcagagtg
      421 tgctatctac tcttgactgg ggtttatctg gtgggaatag cagatgcttt gatacatatg
      481 acactggcct tccgcctatg cttctgtggg tctaatgaga ttaatcattt cttctgtgat
      541 atccctcctc tcttattact ctctcgctca gatacacagg tcaatgagtt agtgttattc
      601 accgtctttg gttttattga actgagtacc atttcaggag ttttcatttc ttattgttat
      661 atcatcctat cagtcttgga gatacactct gctgagggga ggttcaaagc tctctctaca
      721 tgcacttccc acttatctgc ggttgcaatt ttccagggaa ctctgctctt tatgtatttc
      781 cggccaagtt cttcctattc tctagatcaa gataaaatga cctcattgtt ttacaccctt
      841 gtggttccca tgttgaaccc cctgatttat agcctgagga acaaggatgt gaaagaggcc
      901 ctgaaaaaac tgaaaaataa aattttattt taa
//
LOCUS       NM_001001961            1108 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 13 subfamily C member 3
            (OR13C3), mRNA.
ACCESSION   NM_001001961
VERSION     NM_001001961.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1108)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   2  (bases 1 to 1108)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 1108)
  AUTHORS   Hoppe R, Breer H and Strotmann J.
  TITLE     Organization and evolutionary relatedness of OR37 olfactory receptor
            genes in mouse and human
  JOURNAL   Genomics 82 (3), 355-364 (2003)
   PUBMED   12906860
COMMENT     ##Evidence-Data-START##
            Transcript is intronless         :: BC136949.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000641090.1/ ENSP00000493076.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL450426.7.
            On Jun 8, 2021 this sequence version replaced NM_001001961.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1108
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..1108
                     /gene="OR13C3"
                     /gene_synonym="OR37G; OR9-8"
                     /note="olfactory receptor family 13 subfamily C member 3"
                     /db_xref="GeneID:138803"
                     /db_xref="HGNC:HGNC:14704"
     misc_feature    44..46
                     /gene="OR13C3"
                     /gene_synonym="OR37G; OR9-8"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MIVQLICTVCFLAVNTFHVRSSFDFLKADD"
     CDS             134..1087
                     /gene="OR13C3"
                     /gene_synonym="OR37G; OR9-8"
                     /note="olfactory receptor OR9-8"
                     /codon_start=1
                     /product="olfactory receptor 13C3"
                     /protein_id="NP_001001961.2"
                     /db_xref="CCDS:CCDS35089.2"
                     /db_xref="GeneID:138803"
                     /db_xref="HGNC:HGNC:14704"
                     /translation="MGEINQTLVSEFLLLGLSGYPKIEIVYFALILVMYLVILIGNGVL
                     IIASIFDSHFHTPMYFFLGNLSFLDICYTSSSVPSTLVSLISKKRNISFSGCAVQMFFG
                     FAMGSTECLLLGMMAFDRYVAICNPLRYPIILSKVAYVLMASVSWLSGGINSAVQTLLA
                     MRLPFCGNNIINHFACEILAVLKLACADISLNIITMVISNMAFLVLPLMVIFFSYMFIL
                     YTILQMNSATGRRKAFSTCSAHLTVVIIFYGTIFFMYAKPKSQDLIGEEKLQALDKLIS
                     LFYGVVTPMLNPILYSLRNKDVKAAVKYLLNKKPIH"
ORIGIN
        1 tcagaacttc aagcaagcac tccttctaat atgtgtcaaa agaatgattg ttcagttaat
       61 ttgtactgtt tgtttcttgg cagtaaatac atttcatgtt agatcttctt ttgatttcct
      121 gaaagcagat gacatgggtg agattaacca gacacttgtg tcagaatttc ttcttctggg
      181 tctttctgga tacccaaaga ttgagattgt ttactttgct ctcattctag ttatgtacct
      241 agtgattcta attggcaatg gtgttctaat catagccagc atctttgatt ctcattttca
      301 cacaccaatg tacttcttcc tgggcaacct ctctttcctg gatatctgct atacatcctc
      361 ctctgttccc tcaacattgg tgagcttaat ctcaaagaaa agaaacattt ccttctctgg
      421 atgtgcagtg cagatgttct ttgggtttgc aatggggtca acagaatgtc tgcttcttgg
      481 catgatggca tttgatcgtt atgtggccat ctgcaaccca ctgagatacc ccatcatcct
      541 gagcaaggtg gcgtatgtat tgatggcttc tgtgtcctgg ctgtccggtg gaataaattc
      601 agctgtgcaa acattacttg ccatgagact gcctttctgt gggaataata ttatcaatca
      661 tttcgcatgt gaaatattag ctgtcctcaa gctggcctgt gctgatatat ccctcaatat
      721 tatcaccatg gtgatatcaa atatggcctt cctggttctt ccactgatgg tcattttttt
      781 ctcctatatg ttcatcctct acaccatctt gcaaatgaat tcagccacag gaagacgcaa
      841 ggcattttcc acgtgctcag ctcacctgac tgtggtgatc atattttacg gtaccatctt
      901 ctttatgtat gcgaaaccga agtctcaaga cctgattggg gaagaaaaat tgcaagcatt
      961 agacaagctc atttctctgt tttatggggt agtgacaccc atgctgaatc ctatactcta
     1021 tagcttgaga aataaggatg taaaagctgc tgtaaaatat ttgctgaaca aaaaaccaat
     1081 tcactaatga aaccaggaca tgtaggtc
//
LOCUS       NM_001001963             939 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily L member 8
            (OR2L8), mRNA.
ACCESSION   NM_001001963
VERSION     NM_001001963.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 939)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 939)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000623922.1/ ENSP00000485287.1
            polymorphic pseudogene :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BK004459.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be non-functional as an olfactory receptor
            according to the Classifier for Olfactory Receptor Pseudogenes.
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..939
                     /gene="OR2L8"
                     /note="olfactory receptor family 2 subfamily L member 8"
                     /db_xref="GeneID:391190"
                     /db_xref="HGNC:HGNC:15014"
     CDS             1..939
                     /gene="OR2L8"
                     /note="olfactory receptor OR1-46"
                     /codon_start=1
                     /product="olfactory receptor 2L8"
                     /protein_id="NP_001001963.1"
                     /db_xref="GeneID:391190"
                     /db_xref="HGNC:HGNC:15014"
                     /translation="MENYNQTSTDFILLGLFPPSRIDLFFFILIVFIFLMALIGNLSMI
                     LLIFLDTHLHTPMYFLLSQLSLIDLNYISTIVPKMASDFLHGNKSISFTGCGIQSFFFL
                     ALGGAEALLLASMAYDRYIAICFPLHYLIRMSKRVCVLMITGSWIIGSINACAHTVYVL
                     HIPYCRSRAINHFFCDVPAMVTLACMDTWVYEGTVFLSATIFLVFPFIGISCSYGQVLF
                     AVYHMKSAEGRKKAYLTCSTHLTVVTFYYAPFVYTYLRPRSLRSPTEDKVLAVFYTILT
                     PMLNPIIYSLRNKEVMGALTRVSQRICSVKM"
     misc_feature    13..15
                     /gene="OR2L8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGY9.1); glycosylation site"
     misc_feature    73..144
                     /gene="OR2L8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY9.1);
                     transmembrane region"
     misc_feature    169..234
                     /gene="OR2L8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY9.1);
                     transmembrane region"
     misc_feature    262..264
                     /gene="OR2L8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGY9.1); glycosylation site"
     misc_feature    298..357
                     /gene="OR2L8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY9.1);
                     transmembrane region"
     misc_feature    415..471
                     /gene="OR2L8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY9.1);
                     transmembrane region"
     misc_feature    583..654
                     /gene="OR2L8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY9.1);
                     transmembrane region"
     misc_feature    706..774
                     /gene="OR2L8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY9.1);
                     transmembrane region"
     misc_feature    814..873
                     /gene="OR2L8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY9.1);
                     transmembrane region"
ORIGIN
        1 atggaaaatt acaatcaaac atcaactgat ttcatcttat tggggctgtt tccaccatca
       61 agaattgacc ttttcttctt cattctcatt gttttcattt tcctgatggc tctaattgga
      121 aacctgtcca tgattcttct catcttcttg gacacccatc tccacacacc catgtatttc
      181 ctactgagtc agctctccct cattgaccta aattacatct ccaccattgt tcctaagatg
      241 gcatctgatt ttctgcatgg aaacaagtct atctccttca ctgggtgtgg gattcagagt
      301 ttcttcttct tggcattagg aggtgcagaa gcactacttt tggcatctat ggcctatgat
      361 cgttacattg ctatttgctt tcctctccac tatctcatcc gcatgagcaa aagagtgtgt
      421 gtgctgatga taacagggtc ttggatcata ggctcgatca atgcttgtgc tcacactgta
      481 tatgtactcc atattcctta ttgccgatcc agggccatca atcatttctt ctgtgatgtc
      541 ccagcaatgg tgactctggc ctgcatggac acctgggtct atgagggcac agtgtttttg
      601 agtgccacca tctttctcgt gtttcccttc attggtattt catgttccta tggccaggtt
      661 ctctttgctg tctaccacat gaaatctgca gaagggagga agaaagccta tttgacctgc
      721 agcacccacc tcactgtagt aactttctac tatgcacctt ttgtctacac ttatctacgt
      781 ccaagatccc tgcgatctcc aacagaggac aaggttctgg ctgtcttcta caccatcctc
      841 accccaatgc tcaaccccat catctatagc ctgaggaaca aggaggtgat gggggccctg
      901 acacgagtga gtcagagaat ctgctctgtg aaaatgtag
//
LOCUS       NM_001001964            3770 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily T member 11
            (OR2T11), mRNA.
ACCESSION   NM_001001964
VERSION     NM_001001964.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3770)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3770)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3770)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3770)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641193.1/ ENSP00000492951.1
            polymorphic pseudogene :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC098483.2.
            On Aug 5, 2020 this sequence version replaced NM_001001964.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be non-functional as an olfactory receptor
            according to the Classifier for Olfactory Receptor Pseudogenes.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3770
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..3770
                     /gene="OR2T11"
                     /gene_synonym="OR2T11Q"
                     /note="olfactory receptor family 2 subfamily T member 11"
                     /db_xref="GeneID:127077"
                     /db_xref="HGNC:HGNC:19574"
     misc_feature    7..9
                     /gene="OR2T11"
                     /gene_synonym="OR2T11Q"
                     /note="upstream in-frame stop codon"
     CDS             199..1149
                     /gene="OR2T11"
                     /gene_synonym="OR2T11Q"
                     /note="olfactory receptor OR1-65"
                     /codon_start=1
                     /product="olfactory receptor 2T11"
                     /protein_id="NP_001001964.1"
                     /db_xref="GeneID:127077"
                     /db_xref="HGNC:HGNC:19574"
                     /translation="MTNTSSSDFTLLGLLVNSEAAGIVFTVILAVFLGAVTANLVMIFL
                     IQVDSRLHTPMYFLLSQLSIMDTLFICTTVPKLLADMVSKEKIISFVACGIQIFLYLTM
                     IGSEFFLLGLMAYDCYVAVCNPLRYPVLMNRKKCLLLAAGAWFGGSLDGFLLTPITMNV
                     PYCGSRSINHFFCEIPAVLKLACADTSLYETLMYICCVLMLLIPISIISTSYSLILLTI
                     HRMPSAEGRKKAFTTCSSHLTVVSIFYGAAFYTYVLPQSFHTPEQDKVVSAFYTIVTPM
                     LNPLIYSLRNKDVIGAFKKVFACCSSAQKVATSDA"
     misc_feature    205..207
                     /gene="OR2T11"
                     /gene_synonym="OR2T11Q"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH01.1); glycosylation site"
     misc_feature    265..336
                     /gene="OR2T11"
                     /gene_synonym="OR2T11Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH01.1);
                     transmembrane region"
     misc_feature    361..426
                     /gene="OR2T11"
                     /gene_synonym="OR2T11Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH01.1);
                     transmembrane region"
     misc_feature    490..549
                     /gene="OR2T11"
                     /gene_synonym="OR2T11Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH01.1);
                     transmembrane region"
     misc_feature    607..663
                     /gene="OR2T11"
                     /gene_synonym="OR2T11Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH01.1);
                     transmembrane region"
     misc_feature    775..846
                     /gene="OR2T11"
                     /gene_synonym="OR2T11Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH01.1);
                     transmembrane region"
     misc_feature    898..966
                     /gene="OR2T11"
                     /gene_synonym="OR2T11Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH01.1);
                     transmembrane region"
     misc_feature    1006..1065
                     /gene="OR2T11"
                     /gene_synonym="OR2T11Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH01.1);
                     transmembrane region"
ORIGIN
        1 acctgatgac ccacattgag gggtaatcag attccctgtg gggtctttct gcagcctcta
       61 gcctggaagc ttcatcctga cggtaccctc agaagtgtca cctctactgc agacctttcc
      121 catcttgacc gtgttctctt gcctccttcc tggtccttgt gtcttcccgt tgccctggga
      181 cgctcgtggg ccatatcaat gacgaacaca tcatcctctg acttcaccct cctggggctt
      241 ctggtgaaca gtgaggctgc cgggattgta tttacagtga tccttgctgt tttcttgggg
      301 gccgtgactg caaatttggt catgatattc ttgattcagg tggactctcg cctccacacc
      361 cccatgtact ttctgctcag tcagctgtcc atcatggaca cccttttcat ctgtaccact
      421 gtcccaaaac tcctggcaga catggtttct aaagagaaga tcatttcctt tgtggcctgt
      481 ggcatccaga tcttcctcta cctgaccatg attggttctg agttcttcct cctgggcctc
      541 atggcctatg actgctacgt ggctgtctgt aaccctctga gatacccagt cctgatgaac
      601 cgcaagaagt gtcttttgct ggctgctggt gcctggtttg ggggctccct cgatggcttt
      661 ctgctcactc ccatcaccat gaatgtccct tactgtggct cccgaagtat caaccatttt
      721 ttctgtgaga tcccagcagt tctgaaactg gcctgtgcag acacgtcctt gtatgaaact
      781 ctgatgtaca tctgctgtgt cctcatgttg ctcatcccca tctctatcat ctccacttcc
      841 tactccctca tcttgttaac catccaccgc atgccctctg ctgaaggtcg caaaaaggcc
      901 ttcaccactt gttcctccca cttgactgta gttagcatct tctatggggc tgccttctac
      961 acatacgtgc tgccccagtc cttccacacc cccgagcagg acaaagtagt gtcagccttc
     1021 tataccattg tcacgcccat gcttaatcct ctcatctaca gcctcagaaa caaggacgtc
     1081 ataggggcat ttaaaaaggt atttgcatgt tgctcatctg ctcagaaagt agcaacaagt
     1141 gatgcttaga gagtcactgc ccagaggata aggcttccta aggacttcct ccatttgccc
     1201 tgtttccctg gagatgatct gctcagctat caacctacac ttactactgg cagttaagat
     1261 gattcaccct gtctggattc ttgctcctcg ggagcaaggg aaagatgttt tactgttatg
     1321 cagagatctt tcagtgaagt atcaaaaatg gtttattatg aagttaaata atttatctag
     1381 tctttttatt tagggaagaa aaaccccaaa tattagagtt cacagcaacc tttcactctg
     1441 aactagatct ccttcacaac atttgttcat gtttaaacaa cacaatgaaa gaaacctgca
     1501 aaagctatca aatgtttaca gtcaaattct gtgattagca gcaatagagt aaaagaatgc
     1561 caatacacaa gtggcaaaga agataaaagc acacacttta gtcgtgtttt ttattttagt
     1621 attaacccca agtaactata agctctaata ttatcgttga atctctgacc ctcttgagta
     1681 cagacagcag ctatcaaata ctaggccaca ataaatggtg gtgaattgaa cagaactgag
     1741 tatgaatggg tggaggttca gcatgacaca gctactcaca gggaatagac tctaacactt
     1801 agcatcaaag aacatgactg ccactttcct tgaggatgta ttaacaggat accaggttcg
     1861 ttaacatcca tggccagaaa cttccctttt ccaagttctg tgattcaaca gcaacactta
     1921 aggcactttg agactgactg agtggggtgg gaagtccctg gagttttcca tgcgggtgtt
     1981 acatgataac agacacgttt ttaaagcatc actatgccta cagtgtagga aaatagaaca
     2041 aagggcaaac atggatacag gaagacaatt gaggtttcag agatgagaaa caaggatggc
     2101 ttgtgtaggg tgtggacaca aaggatttgg ctcatggatt tggcgtgtgt tagcaacagg
     2161 tgtagagtga aggataactt attggtttgg gcccaagtga ataaaaaaat ggaatattga
     2221 tatttggaaa acttgtcggt agcagaagtc aagaattcac ttaagataat ttggaaatat
     2281 ctattaggta tttaagctag gccgggtgca gtagctcata cctgtactcc cagcacttta
     2341 gtggagacca aggagggtgg attgcttgag ctcaggagtt tgagaccagc ctgccaacat
     2401 agcaaaaccc catctaccaa aaacacaaat atcagttgga tgtggtggca catgcctgta
     2461 gtcccagcta cttgggaggc tgaggtggga ggatcacggg aggctgagaa gttgaggctg
     2521 cagtgagccg tgatggcacc actgtgctcc agcctgactg gcagagaggc cttgtctcaa
     2581 gataaataca taaatacaga aagatattga agctatatgt aaagtcaatt gtacttcaga
     2641 ttagagttct gaacataaag catacattta ataatcagag tacgaagagc atttaaaaac
     2701 aggttttttg agagttttct taagagaaag cttgagactg agatctgagg cagctggcgt
     2761 cacatgaaaa attagaaaga tagggtttta tgaggttaga agaaatctaa gacaaagtgt
     2821 ttaaagaaag taaaagcaac tgcaacaagt gcagtctatg gttgaaataa gtgagatttg
     2881 gttactgtat ttagcaacat gaaaggttac ttgtaacctt agtgaccatt tttaatggag
     2941 atatgcttag agatgattca gggtaaaatc aagggggagg aagtggataa ggtaagttga
     3001 gtatgaattt ttagattttt ttgtaaagga aatggagtat aactagaaaa acgtgatacc
     3061 aatgtgtttg atgttaatgg tgctgtcatg tgatattgag tatgaagttc aaaggaataa
     3121 ttcagtacaa aaagaaaatc gatatatgag aaatggagga aagtttcaga aagatggcct
     3181 ttgagagtgg ccgaaagcac agaaaccagt ttagaagtgg agagtttgaa cttttgtaag
     3241 agcatggcca actcagtgac aatagcagga ggtcaggcag agcgtgtgtt ataactaaga
     3301 tcccttccga tggtttgtat cttctcggtg cagttagaat caatgagagc gtctatgagt
     3361 aaagatcagg gtggtcccgt caaaagtttg agaggagaag agaatcatct tggagaagag
     3421 gtaagttaat aagctagtag agacatctgg gttgtaggac aaccttcgga ctccccctcc
     3481 tttgcattga atttatgaat ttagcacagc acatttgtca gacgattcat gatgtgtgtt
     3541 cgggatggtg gccagaaaat agtaggcact caatatgtta actagaatta tgttaaaaac
     3601 aaggacaaaa taacagcagc aactgctgtt actactacaa acttattcct ttgtgaataa
     3661 agtgtgtcat atttatgctt ttccaaggca tataatttgc agtatgtaat agatgttcag
     3721 tagctgttta tttcaataaa tttgtctctt tgggcaatta aaagttgtat
//
LOCUS       NM_001001965             957 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily D member 5
            (OR4D5), mRNA.
ACCESSION   NM_001001965
VERSION     NM_001001965.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 957)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307033.3/ ENSP00000305970.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BK004316.1.
            On Aug 30, 2004 this sequence version replaced XM_166782.4.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..957
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.1"
     gene            1..957
                     /gene="OR4D5"
                     /gene_synonym="OR11-276"
                     /note="olfactory receptor family 4 subfamily D member 5"
                     /db_xref="GeneID:219875"
                     /db_xref="HGNC:HGNC:14852"
     CDS             1..957
                     /gene="OR4D5"
                     /gene_synonym="OR11-276"
                     /note="olfactory receptor OR11-276"
                     /codon_start=1
                     /product="olfactory receptor 4D5"
                     /protein_id="NP_001001965.1"
                     /db_xref="CCDS:CCDS31699.1"
                     /db_xref="GeneID:219875"
                     /db_xref="HGNC:HGNC:14852"
                     /translation="MNPANHSQVAGFVLLGLSQVWELRFVFFTVFSAVYFMTVVGNLLI
                     VVIVTSDPHLHTTMYFLLGNLSFLDFCYSSITAPRMLVDLLSGNPTISFGGCLTQLFFF
                     HFIGGIKIFLLTVMAYDRYIAISQPLHYTLIMNQTVCALLMAASWVGGFIHSIVQIALT
                     IQLPFCGPDKLDNFYCDVPQLIKLACTDTFVLELLMVSNNGLVTLMCFLVLLGSYTALL
                     VMLRSHSREGRSKALSTCASHIAVVTLIFVPCIYVYTRPFRTFPMDKAVSVLYTIVTPM
                     LNPAIYTLRNKEVIMAMKKLWRRKKDPIGPLEHRPLH"
     misc_feature    13..15
                     /gene="OR4D5"
                     /gene_synonym="OR11-276"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGN0.1); glycosylation site"
     misc_feature    76..147
                     /gene="OR4D5"
                     /gene_synonym="OR11-276"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN0.1);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR4D5"
                     /gene_synonym="OR11-276"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN0.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR4D5"
                     /gene_synonym="OR11-276"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN0.1);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR4D5"
                     /gene_synonym="OR11-276"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN0.1);
                     transmembrane region"
     misc_feature    586..657
                     /gene="OR4D5"
                     /gene_synonym="OR11-276"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN0.1);
                     transmembrane region"
     misc_feature    706..774
                     /gene="OR4D5"
                     /gene_synonym="OR11-276"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN0.1);
                     transmembrane region"
     misc_feature    808..867
                     /gene="OR4D5"
                     /gene_synonym="OR11-276"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN0.1);
                     transmembrane region"
ORIGIN
        1 atgaatccag caaatcattc ccaggtggca ggatttgttc tactggggct ctctcaggtt
       61 tgggagcttc ggtttgtttt cttcactgtt ttctctgctg tgtattttat gactgtagtg
      121 ggaaaccttc ttattgtggt catagtgacc tccgacccac acctgcacac aaccatgtat
      181 tttctcttgg gcaatctttc tttcctggac ttttgctact cttccatcac agcacctagg
      241 atgctggttg acttgctctc aggcaaccct accatttcct ttggtggatg cctgactcaa
      301 ctcttcttct tccacttcat tggaggcatc aagatcttcc tgctgactgt catggcgtat
      361 gaccgctaca ttgccatttc ccagcccctg cactacacgc tcattatgaa tcagactgtc
      421 tgtgcactcc ttatggcagc ctcctgggtg gggggcttca tccactccat agtacagatt
      481 gcattgacta tccagctgcc attctgtggg cctgacaagc tggacaactt ttattgtgat
      541 gtgcctcagc tgatcaaatt ggcctgcaca gatacctttg tcttagagct tttaatggtg
      601 tctaacaatg gcctggtgac cctgatgtgt tttctggtgc ttctgggatc gtacacagca
      661 ctgctagtca tgctccgaag ccactcacgg gagggccgca gcaaggccct gtctacctgt
      721 gcctctcaca ttgctgtggt gaccttaatc tttgtgcctt gcatctacgt ctatacaagg
      781 ccttttcgga cattccccat ggacaaggcc gtctctgtgc tatacacaat tgtcaccccc
      841 atgctgaatc ctgccatcta taccctgaga aacaaggaag tgatcatggc catgaagaag
      901 ctgtggagga ggaaaaagga ccctattggt cccctggagc acagaccctt acattag
//
LOCUS       NM_001001966            1367 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 14 subfamily A member 16
            (OR14A16), mRNA.
ACCESSION   NM_001001966
VERSION     NM_001001966.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1367)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1367)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641093.1/ ENSP00000493024.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099571.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 4, 2020 this sequence version replaced NM_001001966.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1367
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..1367
                     /gene="OR14A16"
                     /gene_synonym="OR5AT1"
                     /note="olfactory receptor family 14 subfamily A member 16"
                     /db_xref="GeneID:284532"
                     /db_xref="HGNC:HGNC:15022"
     misc_feature    226..228
                     /gene="OR14A16"
                     /gene_synonym="OR5AT1"
                     /note="upstream in-frame stop codon"
     CDS             298..1227
                     /gene="OR14A16"
                     /gene_synonym="OR5AT1"
                     /note="olfactory receptor, family 5, subfamily AT, member
                     1; olfactory receptor OR1-45; olfactory receptor 5AT1"
                     /codon_start=1
                     /product="olfactory receptor 14A16"
                     /protein_id="NP_001001966.1"
                     /db_xref="CCDS:CCDS31097.1"
                     /db_xref="GeneID:284532"
                     /db_xref="HGNC:HGNC:15022"
                     /translation="MANLTIVTEFILMGFSTNKNMCILHSILFLLIYLCALMGNVLIIM
                     ITTLDHHLHTPVYFFLKNLSFLDLCLISVTAPKSIANSLIHNNSISFLGCVSQVFLLLS
                     SASAELLLLTVMSFDRYTAICHPLHYDVIMDRSTCVQRATVSWLYGGLIAVMHTAGTFS
                     LSYCGSNMVHQFFCDIPQLLAISCSENLIREIALILINVVLDFCCFIVIIITYVHVFST
                     VKKIPSTEGQSKAYSICLPHLLVVLFLSTGFIAYLKPASESPSILDAVISVFYTMLPPT
                     FNPIIYSLRNKAIKVALGMLIKGKLTKK"
     misc_feature    304..306
                     /gene="OR14A16"
                     /gene_synonym="OR5AT1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NHC5.1); glycosylation site"
     misc_feature    367..429
                     /gene="OR14A16"
                     /gene_synonym="OR5AT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC5.1);
                     transmembrane region"
     misc_feature    454..516
                     /gene="OR14A16"
                     /gene_synonym="OR5AT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC5.1);
                     transmembrane region"
     misc_feature    556..558
                     /gene="OR14A16"
                     /gene_synonym="OR5AT1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NHC5.1); glycosylation site"
     misc_feature    589..651
                     /gene="OR14A16"
                     /gene_synonym="OR5AT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC5.1);
                     transmembrane region"
     misc_feature    691..753
                     /gene="OR14A16"
                     /gene_synonym="OR5AT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC5.1);
                     transmembrane region"
     misc_feature    880..942
                     /gene="OR14A16"
                     /gene_synonym="OR5AT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC5.1);
                     transmembrane region"
     misc_feature    1003..1062
                     /gene="OR14A16"
                     /gene_synonym="OR5AT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC5.1);
                     transmembrane region"
     misc_feature    1102..1164
                     /gene="OR14A16"
                     /gene_synonym="OR5AT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC5.1);
                     transmembrane region"
ORIGIN
        1 ggccctgttt cttactagag agagctctat tttcttttct ctttcctttg cctattaaac
       61 ctctgctcct gaactcctgg tgtgtgtccg tgtcctaaat cttctttgtg ggagacagtg
      121 aatcctggat atttacccca gacagtgaca ccacttcaat tgtaaagttt gccaacagaa
      181 agatctggcc tttagtaagc actctataaa tgaataaaga agcattgaaa acaagcctca
      241 gaagacatct ggaatcttcg tgcgccagat tggaggtata gaattactcc tgcaataatg
      301 gcaaatctca caatcgtgac tgaatttatc cttatggggt tttctaccaa taaaaatatg
      361 tgcattttgc attcgattct cttcttgttg atttatttgt gtgccctgat ggggaatgtc
      421 ctcattatca tgatcacaac tttggaccat catctccaca cccccgtgta tttcttcttg
      481 aagaatctat ctttcttgga tctctgcctt atttcagtca cggctcccaa atctatcgcc
      541 aattctttga tacacaacaa ctccatttca ttccttggct gtgtttccca ggtctttttg
      601 ttgctttctt cagcatctgc agagctgctc ctcctcacgg tgatgtcctt tgaccgctat
      661 actgctatat gtcaccctct gcactatgat gtcatcatgg acaggagcac ctgtgtccaa
      721 agagccactg tgtcttggct gtatgggggt ctgattgctg tgatgcacac agctggcacc
      781 ttctccttat cctactgtgg gtccaacatg gtccatcagt tcttctgtga cattccccag
      841 ttattagcta tttcttgctc agaaaattta ataagagaaa ttgcactcat ccttattaat
      901 gtagttttgg atttctgctg ttttattgtc atcatcatta cctatgtcca cgtcttctct
      961 acagtcaaga agatcccttc cacagaaggc cagtcaaaag cctactctat ttgccttcca
     1021 cacttgctgg ttgtgttatt tctttccact ggattcattg cttatctgaa gccagcttca
     1081 gagtctcctt ctattttgga tgctgtaatt tctgtgttct acactatgct gcccccaacc
     1141 tttaatccca ttatatacag tttgagaaac aaggccataa aggtggctct ggggatgttg
     1201 ataaagggaa agctcaccaa aaagtaaaag ctgttgcttt tcttctttca ataatagata
     1261 ccatttataa tgtacacaca ttaattcttc atttttatct ctaattctta aaagtaaaaa
     1321 tttaaaaaga caaatgaaag caattatttt attagaaaat ttccttg
//
LOCUS       NM_001001967             945 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily D member 13
            (OR5D13), mRNA.
ACCESSION   NM_001001967
VERSION     NM_001001967.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 945)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 945)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 945)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000623930.1/ ENSP00000485428.1
            polymorphic pseudogene :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BK004394.1.
            On Aug 30, 2004 this sequence version replaced XM_372386.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be non-functional as an olfactory receptor
            according to the Classifier for Olfactory Receptor Pseudogenes.
FEATURES             Location/Qualifiers
     source          1..945
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q11"
     gene            1..945
                     /gene="OR5D13"
                     /note="olfactory receptor family 5 subfamily D member 13"
                     /db_xref="GeneID:390142"
                     /db_xref="HGNC:HGNC:15280"
     CDS             1..945
                     /gene="OR5D13"
                     /note="olfactory receptor OR11-148; olfactory receptor
                     OR11-142"
                     /codon_start=1
                     /product="olfactory receptor 5D13"
                     /protein_id="NP_001001967.1"
                     /db_xref="GeneID:390142"
                     /db_xref="HGNC:HGNC:15280"
                     /translation="MMASERNQSSTPTFILLGFSEYPEIQVPLFLVFLFVYTVTVVGNL
                     GMIIIIRLNSKLHTIMCFFLSHLSLTDFCFSTVVTPKLLENLVVEYRTISFSGCIMQFC
                     FACIFGVTETFMLAAMAYDRFVAVCKPLLYTTIMSQKLCALLVAGSYTWGIVCSLILTY
                     FLLDLSFCESTFINNFICDHSVIVSASYSDPYISQRLCFIIAIFNEVSSLIIILTSYML
                     IFTTIMKMRSASGRQKTFSTCASHLTAITIFHGTILFLYCVPNPKTSSLIVTVASVFYT
                     VAIPMLNPLIYSLRNKDINNMFEKLVVTKLIYH"
     misc_feature    19..21
                     /gene="OR5D13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGL4.2); glycosylation site"
     misc_feature    82..144
                     /gene="OR5D13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL4.2);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR5D13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL4.2);
                     transmembrane region"
     misc_feature    304..366
                     /gene="OR5D13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL4.2);
                     transmembrane region"
     misc_feature    424..486
                     /gene="OR5D13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL4.2);
                     transmembrane region"
     misc_feature    595..657
                     /gene="OR5D13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL4.2);
                     transmembrane region"
     misc_feature    718..780
                     /gene="OR5D13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL4.2);
                     transmembrane region"
     misc_feature    820..882
                     /gene="OR5D13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL4.2);
                     transmembrane region"
ORIGIN
        1 atgatggcat ctgaaagaaa tcaaagcagc acacccactt ttattctctt gggtttttca
       61 gaatacccag aaatccaggt tccactcttt ctggttttct tgttcgtcta cacagtcact
      121 gtagtgggga acttgggcat gataataatc atcagactca attcaaaact ccatacaatc
      181 atgtgctttt tccttagtca cttgtccttg acagacttct gtttttccac tgtagttaca
      241 cctaaactgt tggagaactt ggttgtggaa tacagaacca tctctttctc tggttgcatc
      301 atgcaatttt gttttgcttg catttttgga gtgacagaaa ctttcatgtt agcagcgatg
      361 gcttatgacc gttttgtggc agtttgtaaa cccttgctgt ataccactat tatgtctcag
      421 aagctctgtg ctcttctggt ggctgggtcc tatacatggg ggatagtgtg ctccctgata
      481 ctcacatatt ttcttcttga cttatcgttt tgtgaatcta ccttcataaa taattttatc
      541 tgtgaccact ctgtaattgt ttctgcctcc tactcagacc cctatatcag ccagaggcta
      601 tgctttatta ttgccatatt caatgaggtg agcagcctaa ttatcattct gacatcatat
      661 atgcttattt tcactaccat tatgaagatg cgatctgcaa gtgggcgcca gaaaactttc
      721 tccacctgtg cctcccacct gacagccatc actatcttcc atggaactat ccttttcctt
      781 tactgtgttc ctaatcctaa aacttctagc ctcatagtta cagtggcttc tgtgttttac
      841 acagtggcga ttccaatgct gaacccattg atctacagcc ttaggaacaa agatatcaat
      901 aacatgtttg aaaaattagt tgtcaccaaa ttgatttacc actga
//
LOCUS       NM_001001968             996 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily S member 1
            (OR6S1), mRNA.
ACCESSION   NM_001001968
VERSION     NM_001001968.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 996)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320704.3/ ENSP00000313110.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BK004263.1.
            On Aug 30, 2004 this sequence version replaced XM_292227.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..996
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..996
                     /gene="OR6S1"
                     /gene_synonym="OR14-37; OR6S1Q"
                     /note="olfactory receptor family 6 subfamily S member 1"
                     /db_xref="GeneID:341799"
                     /db_xref="HGNC:HGNC:15363"
     CDS             1..996
                     /gene="OR6S1"
                     /gene_synonym="OR14-37; OR6S1Q"
                     /note="olfactory receptor OR14-37"
                     /codon_start=1
                     /product="olfactory receptor 6S1"
                     /protein_id="NP_001001968.1"
                     /db_xref="CCDS:CCDS32038.1"
                     /db_xref="GeneID:341799"
                     /db_xref="HGNC:HGNC:15363"
                     /translation="MSPDGNHSSDPTEFVLAGLPNLNSARVELFSVFLLVYLLNLTGNV
                     LIVGVVRADTRLQTPMYFFLGNLSCLEILLTSVIIPKMLSNFLSRQHTISFAACITQFY
                     FYFFLGASEFLLLAVMSADRYLAICHPLRYPLLMSGAVCFRVALACWVGGLVPVLGPTV
                     AVALLPFCKQGAVVQHFFCDSGPLLRLACTNTKKLEETDFVLASLVIVSSLLITAVSYG
                     LIVLAVLSIPSASGRQKAFSTCTSHLIVVTLFYGSAIFLYVRPSQSGSVDTNWAVTVIT
                     TFVTPLLNPFIYALRNEQVKEALKDMFRKVVAGVLGNLLLDKCLSEKAVK"
     misc_feature    16..18
                     /gene="OR6S1"
                     /gene_synonym="OR14-37; OR6S1Q"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH40.2); glycosylation site"
     misc_feature    88..150
                     /gene="OR6S1"
                     /gene_synonym="OR14-37; OR6S1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH40.2);
                     transmembrane region"
     misc_feature    178..240
                     /gene="OR6S1"
                     /gene_synonym="OR14-37; OR6S1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH40.2);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR6S1"
                     /gene_synonym="OR14-37; OR6S1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH40.2);
                     transmembrane region"
     misc_feature    442..504
                     /gene="OR6S1"
                     /gene_synonym="OR14-37; OR6S1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH40.2);
                     transmembrane region"
     misc_feature    622..684
                     /gene="OR6S1"
                     /gene_synonym="OR14-37; OR6S1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH40.2);
                     transmembrane region"
     misc_feature    727..789
                     /gene="OR6S1"
                     /gene_synonym="OR14-37; OR6S1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH40.2);
                     transmembrane region"
     misc_feature    823..885
                     /gene="OR6S1"
                     /gene_synonym="OR14-37; OR6S1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH40.2);
                     transmembrane region"
ORIGIN
        1 atgagtcctg atgggaacca cagtagtgat ccaacagagt tcgtcctggc agggctccca
       61 aatctcaaca gcgcaagagt ggaattattt tctgtgtttc ttcttgtcta tctcctgaat
      121 ctgacaggca atgtgttgat tgtgggggtg gtaagggctg atactcgact acagacccct
      181 atgtacttct ttctgggtaa cctgtcctgc ctagagatac tgctcacttc tgtcatcatt
      241 ccaaagatgc tgagcaattt cctctcaagg caacacacta tttcctttgc tgcatgtatc
      301 acccaattct atttctactt ctttctcggg gcctccgagt tcttactgtt ggctgtcatg
      361 tctgcggatc gctacctggc catctgtcat cctctgcgct accccttgct catgagtggg
      421 gctgtgtgct ttcgtgtggc cttggcctgc tgggtggggg gactcgtccc tgtgcttggt
      481 cccacagtgg ctgtggcctt gcttcctttc tgtaagcagg gtgctgtggt acagcacttc
      541 ttctgcgaca gtggcccact gctccgcctg gcttgcacca acaccaagaa gctggaggag
      601 actgactttg tcctggcctc cctcgtcatt gtatcttcct tgctgatcac tgctgtgtcc
      661 tacggcctca ttgtgctggc agtcctgagc atcccctctg cttcaggccg tcagaaggcc
      721 ttctctacct gtacctccca cttgatagtg gtgaccctct tctatggaag tgccattttt
      781 ctctatgtgc ggccatcgca gagtggttct gtggacacta actgggcagt gacagtaata
      841 acgacatttg tgacaccact gttgaatcca ttcatctatg ccttacgtaa tgagcaagtc
      901 aaggaagctt tgaaggacat gtttaggaag gtagtggcag gcgttttagg gaatctttta
      961 cttgataaat gtctcagtga gaaagcagta aagtaa
//
LOCUS       NM_001001973            1101 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens ATP synthase F1 subunit gamma (ATP5F1C), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001001973
VERSION     NM_001001973.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1101)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1101)
  AUTHORS   Pecina P, Nuskova H, Karbanova V, Kaplanova V, Mracek T and Houstek
            J.
  TITLE     Role of the mitochondrial ATP synthase central stalk subunits gamma
            and delta in the activity and assembly of the mammalian enzyme
  JOURNAL   Biochim Biophys Acta Bioenerg 1859 (5), 374-381 (2018)
   PUBMED   29499186
  REMARK    GeneRIF: Both gamma and delta subunits silenced cells displayed
            decreased ATP synthase function - lowered rate of ADP-stimulated
            respiration, a two-fold increased sensitivity of respiration to
            inhibitor oligomycin, and impaired utilization of mitochondrial
            membrane potential for ADP phosphorylation.
REFERENCE   3  (bases 1 to 1101)
  AUTHORS   Fujikawa M, Sugawara K, Tanabe T and Yoshida M.
  TITLE     Assembly of human mitochondrial ATP synthase through two separate
            intermediates, F1-c-ring and b-e-g complex
  JOURNAL   FEBS Lett 589 (19 Pt B), 2707-2712 (2015)
   PUBMED   26297831
REFERENCE   4  (bases 1 to 1101)
  AUTHORS   Watanabe R and Noji H.
  TITLE     Chemomechanical coupling mechanism of F(1)-ATPase: catalysis and
            torque generation
  JOURNAL   FEBS Lett 587 (8), 1030-1035 (2013)
   PUBMED   23395605
  REMARK    GeneRIF: Studies indicate that F1-ATPase (F1) is a rotary motor
            protein driven by ATP hydrolysis and the minimum complex of F1 for
            function as a rotary motor is the alpha3beta3gamma subcomplex.
            Review article
REFERENCE   5  (bases 1 to 1101)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein C,
            Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   6  (bases 1 to 1101)
  AUTHORS   Elston T, Wang H and Oster G.
  TITLE     Energy transduction in ATP synthase
  JOURNAL   Nature 391 (6666), 510-513 (1998)
   PUBMED   9461222
REFERENCE   7  (bases 1 to 1101)
  AUTHORS   Abrahams JP, Leslie AG, Lutter R and Walker JE.
  TITLE     Structure at 2.8 A resolution of F1-ATPase from bovine heart
            mitochondria
  JOURNAL   Nature 370 (6491), 621-628 (1994)
   PUBMED   8065448
REFERENCE   8  (bases 1 to 1101)
  AUTHORS   Jabs EW, Thomas PJ, Bernstein M, Coss C, Ferreira GC and Pedersen
            PL.
  TITLE     Chromosomal localization of genes required for the terminal steps of
            oxidative metabolism: alpha and gamma subunits of ATP synthase and
            the phosphate carrier
  JOURNAL   Hum Genet 93 (5), 600-602 (1994)
   PUBMED   8168843
REFERENCE   9  (bases 1 to 1101)
  AUTHORS   Matsuda C, Endo H, Ohta S and Kagawa Y.
  TITLE     Gene structure of human mitochondrial ATP synthase gamma-subunit.
            Tissue specificity produced by alternative RNA splicing
  JOURNAL   J Biol Chem 268 (33), 24950-24958 (1993)
   PUBMED   8227057
REFERENCE   10  (bases 1 to 1101)
  AUTHORS   Boyer,P.D., Cross,R.L. and Momsen,W.
  TITLE     A new concept for energy coupling in oxidative phosphorylation based
            on a molecular explanation of the oxygen exchange reactions
  JOURNAL   Proc Natl Acad Sci U S A 70 (10), 2837-2839 (1973)
   PUBMED   4517936
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.220866.1, D16562.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000356708.12/ ENSP00000349142.7
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ893894.1, D16562.1 and
            BC026049.1.
            On Nov 23, 2018 this sequence version replaced NM_001001973.2.
            Summary: This gene encodes a subunit of mitochondrial ATP synthase.
            Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an
            electrochemical gradient of protons across the inner membrane
            during oxidative phosphorylation. ATP synthase is composed of two
            linked multi-subunit complexes: the soluble catalytic core, F1, and
            the membrane-spanning component, Fo, comprising the proton channel.
            The catalytic portion of mitochondrial ATP synthase consists of 5
            different subunits (alpha, beta, gamma, delta, and epsilon)
            assembled with a stoichiometry of 3 alpha, 3 beta, and a single
            representative of the other 3. The proton channel consists of three
            main subunits (a, b, c). This gene encodes the gamma subunit of the
            catalytic core. Alternatively spliced transcript variants encoding
            different isoforms have been identified. This gene also has a
            pseudogene on chromosome 14. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript, and encodes the longest isoform (L), also known as a
            liver type isoform.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1101
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p14"
     gene            1..1101
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /note="ATP synthase F1 subunit gamma"
                     /db_xref="GeneID:509"
                     /db_xref="HGNC:HGNC:833"
                     /db_xref="MIM:108729"
     misc_feature    2..4
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /note="upstream in-frame stop codon"
     CDS             32..928
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /EC_number="3.6.1.14"
                     /note="isoform L (liver) precursor is encoded by transcript
                     variant 1; mitochondrial ATP synthase, gamma subunit 1; ATP
                     synthase gamma chain, mitochondrial; ATP synthase subunit
                     gamma, mitochondrial; F-ATPase gamma subunit; ATP synthase,
                     H+ transporting, mitochondrial F1 complex, gamma
                     polypeptide 1"
                     /codon_start=1
                     /product="ATP synthase subunit gamma, mitochondrial isoform
                     L (liver) precursor"
                     /protein_id="NP_001001973.1"
                     /db_xref="CCDS:CCDS31142.1"
                     /db_xref="GeneID:509"
                     /db_xref="HGNC:HGNC:833"
                     /db_xref="MIM:108729"
                     /translation="MFSRAGVAGLSAWTLQPQWIQVRNMATLKDITRRLKSIKNIQKIT
                     KSMKMVAAAKYARAERELKPARIYGLGSLALYEKADIKGPEDKKKHLLIGVSSDRGLCG
                     AIHSSIAKQMKSEVATLTAAGKEVMLVGIGDKIRGILYRTHSDQFLVAFKEVGRKPPTF
                     GDASVIALELLNSGYEFDEGSIIFNKFRSVISYKTEEKPIFSLNTVASADSMSIYDDID
                     ADVLQNYQEYNLANIIYYSLKESTTSEQSARMTAMDNASKNASEMIDKLTLTFNRTRQA
                     VITKELIEIISGAAALD"
     transit_peptide 32..106
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /note="Mitochondrion; propagated from UniProtKB/Swiss-Prot
                     (P36542.1)"
     mat_peptide     107..925
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /product="ATP synthase subunit gamma, mitochondrial.
                     /id=PRO_0000002685"
                     /note="propagated from UniProtKB/Swiss-Prot (P36542.1)"
     misc_feature    146..148
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q91VR2; propagated from
                     UniProtKB/Swiss-Prot (P36542.1); acetylation site"
     misc_feature    194..196
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P36542.1); acetylation site"
     misc_feature    374..376
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q91VR2; propagated from
                     UniProtKB/Swiss-Prot (P36542.1); acetylation site"
     misc_feature    467..469
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P36542.1); phosphorylation site"
     misc_feature    491..493
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P36542.1); acetylation site"
     misc_feature    620..622
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P36542.1); acetylation site"
     regulatory      1081..1086
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /note="hexamer: AATAAA"
     polyA_site      1101
                     /gene="ATP5F1C"
                     /gene_synonym="ATP5C; ATP5C1; ATP5CL1"
                     /note="major polyA site"
ORIGIN
        1 ctgaccgacc ttcagcaggg ctgtggctac catgttctct cgcgcgggtg tcgctgggct
       61 gtcggcctgg accttgcagc cgcaatggat tcaagttcga aatatggcaa ctttgaaaga
      121 tatcaccagg agactaaagt ccatcaaaaa catccagaaa attaccaagt ctatgaaaat
      181 ggtagcggca gcaaaatatg cccgagctga gagagagctg aaaccagctc gaatatatgg
      241 attgggatct ttagctctgt atgaaaaagc tgatatcaag gggcctgaag acaagaagaa
      301 acacctcctt attggtgtgt cctcagatcg aggactgtgt ggtgctattc attcctccat
      361 tgctaaacag atgaaaagcg aggttgctac actaacagca gctgggaaag aagttatgct
      421 tgttggaatt ggtgacaaaa tcagaggcat actttatagg actcattctg accagtttct
      481 ggtggcattc aaagaagtgg gaagaaagcc ccccactttt ggagatgcgt cagtcattgc
      541 ccttgaatta ctaaattctg gatatgaatt tgatgaaggc tccatcatct ttaataaatt
      601 caggtctgtc atctcctata agacagaaga aaagcccatc ttttccctta ataccgttgc
      661 aagtgctgac agcatgagta tctatgacga tattgatgct gacgtgctgc aaaattacca
      721 agaatacaat ctggccaaca tcatctacta ctctctgaag gagtccacca ctagtgagca
      781 gagtgccagg atgacagcca tggacaatgc cagcaagaat gcttctgaga tgattgacaa
      841 attgacattg acattcaacc gtacccgcca agctgtcatc acaaaagagt tgattgaaat
      901 tatctctggt gctgcagctc tggattaatg aaaatcaagt tccatcctca gacaagaggt
      961 aaagaaggaa aattcagcca gttgattttg tttttagctt actgctgcct ttgtccgaag
     1021 aaactgttcc tccattattt gaattactga agacagcaag atatttgtaa attatcttaa
     1081 aataaacaac ttaaaataaa a
//
LOCUS       NM_001001974            3741 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens pleckstrin homology domain containing A1 (PLEKHA1),
            transcript variant 2, mRNA.
ACCESSION   NM_001001974
VERSION     NM_001001974.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3741)
  AUTHORS   Huang Q and Xiang Y.
  TITLE     Polymorphisms in Selected Genes and Their Association with
            Age-Related Macular Degeneration in a Chinese Population
  JOURNAL   Med Sci Monit 24, 1693-1700 (2018)
   PUBMED   29565837
  REMARK    GeneRIF: investigated the association of PLEKHA1 958A/G,
            polymorphisms with Age-Related Macular Degeneration (AMD) risk.
            PLEKHA1 958A/G polymorphism was associated with a decreased AMD risk
            (additive model: aOR=0.722, 95% CI=0.450-0.979, P=0.019; allele
            model: aOR=0.883, 95% CI=0.736-0.992, P=0.014) Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 3741)
  AUTHORS   Kortvely E and Ueffing M.
  TITLE     Gene Structure of the 10q26 Locus: A Clue to Cracking the
            ARMS2/HTRA1 Riddle?
  JOURNAL   Adv Exp Med Biol 854, 23-29 (2016)
   PUBMED   26427389
  REMARK    GeneRIF: Studies indicate that the high-risk allele of the 10q26
            locus encompasses three genes, PLEKHA1, ARMS2, and HTRA1 with high
            linkage disequilibrium.
REFERENCE   3  (bases 1 to 3741)
  AUTHORS   Gupta D, Gupta V, Singh V, Chawla S, Parveen F, Agrawal S and Phadke
            SR.
  TITLE     Study of Polymorphisms in CX3CR1, PLEKHA1 and VEGF genes as risk
            factors for age-related macular degeneration in Indian patients
  JOURNAL   Arch Med Res 45 (6), 489-494 (2014)
   PUBMED   25050486
  REMARK    GeneRIF: CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms
            were not found to be associated with age-related macular
            degeneration in an Indian population.
REFERENCE   4  (bases 1 to 3741)
  AUTHORS   Mahajan A, Go MJ, Zhang W, Below JE, Gaulton KJ, Ferreira T,
            Horikoshi M, Johnson AD, Ng MC, Prokopenko I, Saleheen D, Wang X,
            Zeggini E, Abecasis GR, Adair LS, Almgren P, Atalay M, Aung T,
            Baldassarre D, Balkau B, Bao Y, Barnett AH, Barroso I, Basit A, Been
            LF, Beilby J, Bell GI, Benediktsson R, Bergman RN, Boehm BO,
            Boerwinkle E, Bonnycastle LL, Burtt N, Cai Q, Campbell H, Carey J,
            Cauchi S, Caulfield M, Chan JC, Chang LC, Chang TJ, Chang YC,
            Charpentier G, Chen CH, Chen H, Chen YT, Chia KS, Chidambaram M,
            Chines PS, Cho NH, Cho YM, Chuang LM, Collins FS, Cornelis MC,
            Couper DJ, Crenshaw AT, van Dam RM, Danesh J, Das D, de Faire U,
            Dedoussis G, Deloukas P, Dimas AS, Dina C, Doney AS, Donnelly PJ,
            Dorkhan M, van Duijn C, Dupuis J, Edkins S, Elliott P, Emilsson V,
            Erbel R, Eriksson JG, Escobedo J, Esko T, Eury E, Florez JC,
            Fontanillas P, Forouhi NG, Forsen T, Fox C, Fraser RM, Frayling TM,
            Froguel P, Frossard P, Gao Y, Gertow K, Gieger C, Gigante B,
            Grallert H, Grant GB, Grrop LC, Groves CJ, Grundberg E, Guiducci C,
            Hamsten A, Han BG, Hara K, Hassanali N, Hattersley AT, Hayward C,
            Hedman AK, Herder C, Hofman A, Holmen OL, Hovingh K, Hreidarsson AB,
            Hu C, Hu FB, Hui J, Humphries SE, Hunt SE, Hunter DJ, Hveem K,
            Hydrie ZI, Ikegami H, Illig T, Ingelsson E, Islam M, Isomaa B,
            Jackson AU, Jafar T, James A, Jia W, Jockel KH, Jonsson A, Jowett
            JB, Kadowaki T, Kang HM, Kanoni S, Kao WH, Kathiresan S, Kato N,
            Katulanda P, Keinanen-Kiukaanniemi KM, Kelly AM, Khan H, Khaw KT,
            Khor CC, Kim HL, Kim S, Kim YJ, Kinnunen L, Klopp N, Kong A,
            Korpi-Hyovalti E, Kowlessur S, Kraft P, Kravic J, Kristensen MM,
            Krithika S, Kumar A, Kumate J, Kuusisto J, Kwak SH, Laakso M, Lagou
            V, Lakka TA, Langenberg C, Langford C, Lawrence R, Leander K, Lee
            JM, Lee NR, Li M, Li X, Li Y, Liang J, Liju S, Lim WY, Lind L,
            Lindgren CM, Lindholm E, Liu CT, Liu JJ, Lobbens S, Long J, Loos RJ,
            Lu W, Luan J, Lyssenko V, Ma RC, Maeda S, Magi R, Mannisto S,
            Matthews DR, Meigs JB, Melander O, Metspalu A, Meyer J, Mirza G,
            Mihailov E, Moebus S, Mohan V, Mohlke KL, Morris AD, Muhleisen TW,
            Muller-Nurasyid M, Musk B, Nakamura J, Nakashima E, Navarro P, Ng
            PK, Nica AC, Nilsson PM, Njolstad I, Nothen MM, Ohnaka K, Ong TH,
            Owen KR, Palmer CN, Pankow JS, Park KS, Parkin M, Pechlivanis S,
            Pedersen NL, Peltonen L, Perry JR, Peters A, Pinidiyapathirage JM,
            Platou CG, Potter S, Price JF, Qi L, Radha V, Rallidis L, Rasheed A,
            Rathman W, Rauramaa R, Raychaudhuri S, Rayner NW, Rees SD, Rehnberg
            E, Ripatti S, Robertson N, Roden M, Rossin EJ, Rudan I, Rybin D,
            Saaristo TE, Salomaa V, Saltevo J, Samuel M, Sanghera DK, Saramies
            J, Scott J, Scott LJ, Scott RA, Segre AV, Sehmi J, Sennblad B, Shah
            N, Shah S, Shera AS, Shu XO, Shuldiner AR, Sigurdsson G, Sijbrands
            E, Silveira A, Sim X, Sivapalaratnam S, Small KS, So WY, Stancakova
            A, Stefansson K, Steinbach G, Steinthorsdottir V, Stirrups K,
            Strawbridge RJ, Stringham HM, Sun Q, Suo C, Syvanen AC, Takayanagi
            R, Takeuchi F, Tay WT, Teslovich TM, Thorand B, Thorleifsson G,
            Thorsteinsdottir U, Tikkanen E, Trakalo J, Tremoli E, Trip MD, Tsai
            FJ, Tuomi T, Tuomilehto J, Uitterlinden AG, Valladares-Salgado A,
            Vedantam S, Veglia F, Voight BF, Wang C, Wareham NJ, Wennauer R,
            Wickremasinghe AR, Wilsgaard T, Wilson JF, Wiltshire S, Winckler W,
            Wong TY, Wood AR, Wu JY, Wu Y, Yamamoto K, Yamauchi T, Yang M, Yengo
            L, Yokota M, Young R, Zabaneh D, Zhang F, Zhang R, Zheng W, Zimmet
            PZ, Altshuler D, Bowden DW, Cho YS, Cox NJ, Cruz M, Hanis CL, Kooner
            J, Lee JY, Seielstad M, Teo YY, Boehnke M, Parra EJ, Chambers JC,
            Tai ES, McCarthy MI and Morris AP.
  CONSRTM   DIAbetes Genetics Replication And Meta-analysis (DIAGRAM)
            Consortium; Asian Genetic Epidemiology Network Type 2 Diabetes
            (AGEN-T2D) Consortium; South Asian Type 2 Diabetes (SAT2D)
            Consortium; Mexican American Type 2 Diabetes (MAT2D) Consortium;
            Type 2 Diabetes Genetic Exploration by Nex-generation sequencing in
            muylti-Ethnic Samples (T2D-GENES) Consortium
  TITLE     Genome-wide trans-ancestry meta-analysis provides insight into the
            genetic architecture of type 2 diabetes susceptibility
  JOURNAL   Nat Genet 46 (3), 234-244 (2014)
   PUBMED   24509480
REFERENCE   5  (bases 1 to 3741)
  AUTHORS   Hogan A, Yakubchyk Y, Chabot J, Obagi C, Daher E, Maekawa K and Gee
            SH.
  TITLE     The phosphoinositol 3,4-bisphosphate-binding protein TAPP1 interacts
            with syntrophins and regulates actin cytoskeletal organization
  JOURNAL   J Biol Chem 279 (51), 53717-53724 (2004)
   PUBMED   15485858
  REMARK    GeneRIF: syntrophins regulate the localization of TAPP1, which may
            be important for remodeling the actin cytoskeleton in response to
            growth factor stimulation
REFERENCE   6  (bases 1 to 3741)
  AUTHORS   Kimber WA, Deak M, Prescott AR and Alessi DR.
  TITLE     Interaction of the protein tyrosine phosphatase PTPL1 with the
            PtdIns(3,4)P2-binding adaptor protein TAPP1
  JOURNAL   Biochem J 376 (Pt 2), 525-535 (2003)
   PUBMED   14516276
  REMARK    GeneRIF: TAPP1 binds to protein tyrosine phosphatase PTPL1.
REFERENCE   7  (bases 1 to 3741)
  AUTHORS   Marshall AJ, Krahn AK, Ma K, Duronio V and Hou S.
  TITLE     TAPP1 and TAPP2 are targets of phosphatidylinositol 3-kinase
            signaling in B cells: sustained plasma membrane recruitment
            triggered by the B-cell antigen receptor
  JOURNAL   Mol Cell Biol 22 (15), 5479-5491 (2002)
   PUBMED   12101241
REFERENCE   8  (bases 1 to 3741)
  AUTHORS   Kimber WA, Trinkle-Mulcahy L, Cheung PC, Deak M, Marsden LJ, Kieloch
            A, Watt S, Javier RT, Gray A, Downes CP, Lucocq JM and Alessi DR.
  TITLE     Evidence that the tandem-pleckstrin-homology-domain-containing
            protein TAPP1 interacts with Ptd(3,4)P2 and the
            multi-PDZ-domain-containing protein MUPP1 in vivo
  JOURNAL   Biochem J 361 (Pt 3), 525-536 (2002)
   PUBMED   11802782
REFERENCE   9  (bases 1 to 3741)
  AUTHORS   Thomas CC, Dowler S, Deak M, Alessi DR and van Aalten DM.
  TITLE     Crystal structure of the phosphatidylinositol
            3,4-bisphosphate-binding pleckstrin homology (PH) domain of tandem
            PH-domain-containing protein 1 (TAPP1): molecular basis of lipid
            specificity
  JOURNAL   Biochem J 358 (Pt 2), 287-294 (2001)
   PUBMED   11513726
REFERENCE   10  (bases 1 to 3741)
  AUTHORS   Dowler S, Currie RA, Campbell DG, Deak M, Kular G, Downes CP and
            Alessi DR.
  TITLE     Identification of pleckstrin-homology-domain-containing proteins
            with novel phosphoinositide-binding specificities
  JOURNAL   Biochem J 351 (Pt 1), 19-31 (2000)
   PUBMED   11001876
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.4551.1,
            SRR11853558.3473.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368990.8/ ENSP00000357986.3
            RefSeq Select criteria      :: based on manual assertion
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC001136.2, BC042458.1 and
            AL133603.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 26, 2021 this sequence version replaced NM_001001974.3.
            Summary: This gene encodes a pleckstrin homology domain-containing
            adapter protein. The encoded protein is localized to the plasma
            membrane where it specifically binds phosphatidylinositol
            3,4-bisphosphate. This protein may be involved in the formation of
            signaling complexes in the plasma membrane. Polymorphisms in this
            gene are associated with age-related macular degeneration.
            Alternate splicing results in multiple transcript variants. A
            pseudogene of this gene is found on chromosome 5.[provided by
            RefSeq, Sep 2010].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, and 5-9 all encode the same isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3741
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.13"
     gene            1..3741
                     /gene="PLEKHA1"
                     /gene_synonym="TAPP1"
                     /note="pleckstrin homology domain containing A1"
                     /db_xref="GeneID:59338"
                     /db_xref="HGNC:HGNC:14335"
                     /db_xref="MIM:607772"
     misc_feature    102..104
                     /gene="PLEKHA1"
                     /gene_synonym="TAPP1"
                     /note="upstream in-frame stop codon"
     CDS             120..1334
                     /gene="PLEKHA1"
                     /gene_synonym="TAPP1"
                     /note="isoform 1 is encoded by transcript variant 2; tandem
                     PH domain-containing protein 1; pleckstrin homology domain
                     containing, family A (phosphoinositide binding specific)
                     member 1"
                     /codon_start=1
                     /product="pleckstrin homology domain-containing family A
                     member 1 isoform 1"
                     /protein_id="NP_001001974.1"
                     /db_xref="CCDS:CCDS7629.1"
                     /db_xref="GeneID:59338"
                     /db_xref="HGNC:HGNC:14335"
                     /db_xref="MIM:607772"
                     /translation="MPYVDRQNRICGFLDIEENENSGKFLRRYFILDTREDSFVWYMDN
                     PQNLPSGSSRVGAIKLTYISKVSDATKLRPKAEFCFVMNAGMRKYFLQANDQQDLVEWV
                     NVLNKAIKITVPKQSDSQPNSDNLSRHGECGKKQVSYRTDIVGGVPIITPTQKEEVNEC
                     GESIDRNNLKRSQSHLPYFTPKPPQDSAVIKAGYCVKQGAVMKNWKRRYFQLDENTIGY
                     FKSELEKEPLRVIPLKEVHKVQECKQSDIMMRDNLFEIVTTSRTFYVQADSPEEMHSWI
                     KAVSGAIVAQRGPGRSASSEHPPGPSESKHAFRPTNAATATSHSTASRSNSLVSTFTME
                     KRGFYESLAKVKPGNFKVQTVSPREPASKVTEQALLRPQSKNGPQEKDCDLVDLDDASL
                     PVSDV"
     misc_feature    990..1115
                     /gene="PLEKHA1"
                     /gene_synonym="TAPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HB21.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1113..1115
                     /gene="PLEKHA1"
                     /gene_synonym="TAPP1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9HB21.2); phosphorylation site"
     misc_feature    1182..1331
                     /gene="PLEKHA1"
                     /gene_synonym="TAPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HB21.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1203..1205
                     /gene="PLEKHA1"
                     /gene_synonym="TAPP1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9HB21.2); phosphorylation site"
     regulatory      3722..3727
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLEKHA1"
                     /gene_synonym="TAPP1"
                     /note="hexamer: AATAAA"
     polyA_site      3741
                     /gene="PLEKHA1"
                     /gene_synonym="TAPP1"
                     /note="major polyA site"
ORIGIN
        1 gcagtgcgcg ggctggccgt cgcggacgcc gctccgggca gccgagcctc tgtgggagcc
       61 ggggccgcgg cggcgcgggt gctccgggcc gaggccgcgt gtaatgttca agctcagaaa
      121 tgccttatgt ggatcgtcag aatcgcattt gtggttttct agacattgaa gaaaatgaaa
      181 acagtgggaa atttcttcga aggtacttca tactggatac cagagaagat agtttcgtgt
      241 ggtacatgga taatccacag aacctacctt ctggatcatc acgtgttgga gccattaagc
      301 ttacctacat ttcaaaggtt agcgatgcta ctaagctaag gccaaaggcg gagttctgtt
      361 ttgttatgaa tgcaggaatg aggaagtact tcctacaagc caatgatcag caggacctag
      421 tggaatgggt aaatgtgtta aacaaagcta taaaaattac agtaccaaag cagtcagact
      481 cacagcctaa ttctgataac ctaagtcgcc atggtgaatg tgggaaaaag caagtgtctt
      541 acagaactga tattgttggt ggcgtaccca tcattactcc cactcagaaa gaagaagtaa
      601 atgaatgtgg tgaaagtatt gacagaaata atctgaaacg gtcacaaagc catcttcctt
      661 actttactcc taaaccacct caagatagtg cggttatcaa agctggatat tgtgtaaaac
      721 aaggagcagt gatgaaaaac tggaagagaa gatattttca attggatgaa aacacaatag
      781 gctacttcaa atctgaactg gaaaaggaac ctcttcgtgt aataccactt aaagaggttc
      841 ataaagtcca ggaatgtaag caaagcgaca taatgatgag ggacaacctc tttgaaattg
      901 taacaacgtc tcgaactttc tatgtgcagg ctgatagccc tgaagagatg cacagttgga
      961 ttaaagcagt ctctggcgcc attgtagcac agcggggtcc cggcagatct gcgtcttctg
     1021 agcatccccc cggtccttca gaatccaaac acgctttccg tcctaccaac gcagccaccg
     1081 ccacctcaca ttccacagcc tctcgcagca actctttggt ctcaaccttt accatggaga
     1141 agcgaggatt ttacgagtct cttgccaagg tcaagccagg gaacttcaag gtccagactg
     1201 tctctccaag agaaccagct tccaaagtga ctgaacaagc tctgttaaga cctcaaagta
     1261 aaaatggccc tcaggaaaaa gattgtgacc tagtagactt ggacgatgcg agccttccgg
     1321 tcagtgacgt gtgaggcaga agcgcacgga gcctgcctgc ctctgccgtc ctcagtttcc
     1381 tttcatgagg cttctagcca aagatgataa agggggaaat ggtttttagt gcgtatatta
     1441 tactgcctct taggtgtact ctttataagc tggtaaacca agaatctagg gagtggccaa
     1501 actaaatata atttctttaa aaaagaaaga aaaaggaaaa atccaaaata tctcagtatc
     1561 atctgtctga agcattgtgt gttctcattc gggtggtaac aatgtatgtg taatattttt
     1621 ttcttagtga ttttgacagt ttaaatgttt aacaacttaa agcattaaaa atgcttatta
     1681 ataactttgg tcatttaaaa aatgctacaa tgacttccta ttaaaggttc aatatttaca
     1741 cattcttatt ggttgatatt accacatgaa atattgccag accaagatac ctaaactcat
     1801 gatgtctgtg gtgctgtaaa atttatacta aaatgtggac tattttgaaa ttataaccat
     1861 ttttgatgcc ctgaatcttg aggtgactta ttttgcatag aggatatgga tagaccaaca
     1921 gtaagggttg tgggttatac cggcatagag aaaagaagaa aactagaatt gaaacaactg
     1981 tgtcttagac atttgtttga aaaagcttca tcaggccttg gagcagtcac tgctttattc
     2041 cgcaaaaatt atttggtagg aaatttttgg gagatctgat tttcttatcc aagttttgta
     2101 aatagttgtt atttctatat ttggattggt gaaagacctc aagtttatat gtaaagacat
     2161 aactgccctt agtcatgaaa ttgttgtgac ctctactttt tgtcactaat agcctacatt
     2221 caagtgcctg tgttttttca tcttgtttag gaatgttttg agattaatgt gcttaaaagt
     2281 cctacgtgac tgattttaaa cattgtgata aaattaattt tcagtagaat agttgaatgt
     2341 gttaagatag gattttatgt tagagatacc agaatgctgg tattctacta cttgtgcaat
     2401 atatatgttt taaaaaacaa atttgagaat acatttaatc atagggatat agatataagc
     2461 acctctctaa agaatcttta gtttccgacg ttgaattata gaccagtttg agtaagtact
     2521 gctttttttt tttggagacg ggctctcgct ctgttgctca ggctggagtg cagtggcgtg
     2581 atctcagctc actacagcct ccacctcgtg ggttcaaaca gttgtgctgc ctcagcttcc
     2641 cgagtagcta ggattacagg tgcatgccac cacacctggc taatttttgt attttagtag
     2701 agatggggtt tcaccatgtt ggccaggctc gtctcgaact cctgacttca ggtgatccac
     2761 ccatctcagc ctcccaaagt gctgggatta caggcgtgag ccaccatgcc cggcccataa
     2821 gtaccgtttt tgaggttcag tcttaaacat ttgctttaag aaaacagtct tgaatttcac
     2881 atgctgctat ttttatattt tgccatttta cagtactgtt ttgttttgaa ttcatgcata
     2941 tcattgaaaa tttctcgttt tcattttctt agatgacttc ttgtctgaga cagaaaaatt
     3001 tcctactaca gcagtgcagt ccagaggtta agatgtatta gaattataca atatcagttt
     3061 aaaaatctgt atgcataaag aatgcaccac tcaacttttt tattcataag ctaatatttt
     3121 tttaaagtta cattaagatt ttttctcttt tgcagctaca tttgaaagtg atagaataaa
     3181 gagattttaa tgagttatca ctttttcagc tgatatattc attttaatgg cttttttgaa
     3241 agttcctttt tcatgaacac acccgagaaa tcttaaatag acactttgca atatttaaga
     3301 acctaatgct gtttaatttt ggtacagctt ccacattgca tgttcacttt agtatttgca
     3361 atttgatata tttcatggtg gcaaaatatt agctctgttt tgggacattt taaaatagaa
     3421 ctatccttgt tcgatagcat aggaaaatgt tctggtgatt gtcagggtct cctaatattt
     3481 atctcaattc ttttataagt ctatggaaat tatttaatta ttttaaaacg tacacacttt
     3541 tcttgtaaat atgtcacatc tgagttcaaa aaaattactt tgaatacctt aatatttgct
     3601 gcattttttt ccgtatatat aacatgtctt ctttcagaat gggaatatat gtgtgcctcc
     3661 caacatttac tgttaaagtg tgttatcttt atatgtcaaa ctggttgaac actgtaatga
     3721 gaataaactg cacagagttt a
//
LOCUS       NM_001001976            4895 bp    mRNA    linear   PRI 19-MAR-2023
DEFINITION  Homo sapiens arginyltransferase 1 (ATE1), transcript variant 1,
            mRNA.
ACCESSION   NM_001001976
VERSION     NM_001001976.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4895)
  AUTHORS   Drazic A, Timmerman E, Kajan U, Marie M, Varland S, Impens F,
            Gevaert K and Arnesen T.
  TITLE     The Final Maturation State of beta-actin Involves N-terminal
            Acetylation by NAA80, not N-terminal Arginylation by ATE1
  JOURNAL   J Mol Biol 434 (2), 167397 (2022)
   PUBMED   34896361
  REMARK    GeneRIF: The Final Maturation State of beta-actin Involves
            N-terminal Acetylation by NAA80, not N-terminal Arginylation by
            ATE1.
REFERENCE   2  (bases 1 to 4895)
  AUTHORS   Kishimoto N, Okano R, Akita A, Miura S, Irie A, Takamune N and
            Misumi S.
  TITLE     Arginyl-tRNA-protein transferase 1 contributes to governing optimal
            stability of the human immunodeficiency virus type 1 core
  JOURNAL   Retrovirology 18 (1), 30 (2021)
   PUBMED   34565409
  REMARK    GeneRIF: Arginyl-tRNA-protein transferase 1 contributes to governing
            optimal stability of the human immunodeficiency virus type 1 core.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4895)
  AUTHORS   Xu C, Li YM, Sun B, Zhong FJ and Yang LY.
  TITLE     ATE1 Inhibits Liver Cancer Progression through RGS5-Mediated
            Suppression of Wnt/beta-Catenin Signaling
  JOURNAL   Mol Cancer Res 19 (9), 1441-1453 (2021)
   PUBMED   34158395
  REMARK    GeneRIF: ATE1 Inhibits Liver Cancer Progression through
            RGS5-Mediated Suppression of Wnt/beta-Catenin Signaling.
REFERENCE   4  (bases 1 to 4895)
  AUTHORS   Kalinina M, Skvortsov D, Kalmykova S, Ivanov T, Dontsova O and
            Pervouchine DD.
  TITLE     Multiple competing RNA structures dynamically control alternative
            splicing in the human ATE1 gene
  JOURNAL   Nucleic Acids Res 49 (1), 479-490 (2021)
   PUBMED   33330934
  REMARK    GeneRIF: Multiple competing RNA structures dynamically control
            alternative splicing in the human ATE1 gene.
REFERENCE   5  (bases 1 to 4895)
  AUTHORS   Birnbaum MD, Zhao N, Moorthy BT, Patel DM, Kryvenko ON, Heidman L,
            Kumar A, Morgan WM, Ban Y, Reis IM, Chen X, Gonzalgo ML, Jorda M,
            Burnstein KL and Zhang F.
  TITLE     Reduced Arginyltransferase 1 is a driver and a potential prognostic
            indicator of prostate cancer metastasis
  JOURNAL   Oncogene 38 (6), 838-851 (2019)
   PUBMED   30177837
  REMARK    GeneRIF: study revealed a novel role of Ate1 in suppressing prostate
            cancer metastasis, which has a profound significance for
            establishing metastatic indicators for prostate cancer, and for
            finding potential treatments to prevent its metastasis.
REFERENCE   6  (bases 1 to 4895)
  AUTHORS   Fletcher O, Johnson N, Orr N, Hosking FJ, Gibson LJ, Walker K,
            Zelenika D, Gut I, Heath S, Palles C, Coupland B, Broderick P,
            Schoemaker M, Jones M, Williamson J, Chilcott-Burns S, Tomczyk K,
            Simpson G, Jacobs KB, Chanock SJ, Hunter DJ, Tomlinson IP, Swerdlow
            A, Ashworth A, Ross G, dos Santos Silva I, Lathrop M, Houlston RS
            and Peto J.
  TITLE     Novel breast cancer susceptibility locus at 9q31.2: results of a
            genome-wide association study
  JOURNAL   J Natl Cancer Inst 103 (5), 425-435 (2011)
   PUBMED   21263130
REFERENCE   7  (bases 1 to 4895)
  AUTHORS   Hu RG, Brower CS, Wang H, Davydov IV, Sheng J, Zhou J, Kwon YT and
            Varshavsky A.
  TITLE     Arginyltransferase, its specificity, putative substrates,
            bidirectional promoter, and splicing-derived isoforms
  JOURNAL   J Biol Chem 281 (43), 32559-32573 (2006)
   PUBMED   16943202
REFERENCE   8  (bases 1 to 4895)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS,
            Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer
            N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White
            TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC,
            Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 4895)
  AUTHORS   Rai R and Kashina A.
  TITLE     Identification of mammalian arginyltransferases that modify a
            specific subset of protein substrates
  JOURNAL   Proc Natl Acad Sci U S A 102 (29), 10123-10128 (2005)
   PUBMED   16002466
REFERENCE   10  (bases 1 to 4895)
  AUTHORS   Kwon YT, Kashina AS and Varshavsky A.
  TITLE     Alternative splicing results in differential expression, activity,
            and localization of the two forms of arginyl-tRNA-protein
            transferase, a component of the N-end rule pathway
  JOURNAL   Mol Cell Biol 19 (1), 182-193 (1999)
   PUBMED   9858543
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853559.5079.1,
            SRR11853563.4531.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000224652.12/ ENSP00000224652.6
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL731566.7, AL731542.6 and
            AC025947.9.
            On Aug 14, 2020 this sequence version replaced NM_001001976.2.
            Summary: This gene encodes an arginyltransferase, an enzyme that is
            involved in posttranslational conjugation of arginine to N-terminal
            aspartate or glutamate residues. Conjugation of arginine to the
            N-terminal aspartate or glutamate targets proteins for
            ubiquitin-dependent degradation. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Dec 2013].
            Transcript Variant: This variant (1) encodes isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4895
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.13"
     gene            1..4895
                     /gene="ATE1"
                     /note="arginyltransferase 1"
                     /db_xref="GeneID:11101"
                     /db_xref="HGNC:HGNC:782"
                     /db_xref="MIM:607103"
     misc_feature    38..40
                     /gene="ATE1"
                     /note="upstream in-frame stop codon"
     CDS             83..1639
                     /gene="ATE1"
                     /EC_number="2.3.2.8"
                     /note="isoform 1 is encoded by transcript variant 1;
                     arginyl-tRNA-protein transferase; R-transferase 1;
                     arginine-tRNA--protein transferase 1"
                     /codon_start=1
                     /product="arginyl-tRNA--protein transferase 1 isoform 1"
                     /protein_id="NP_001001976.1"
                     /db_xref="CCDS:CCDS31300.1"
                     /db_xref="GeneID:11101"
                     /db_xref="HGNC:HGNC:782"
                     /db_xref="MIM:607103"
                     /translation="MAFWAGGSPSVVDYFPSEDFYRCGYCKNESGSRSNGMWAHSMTVQ
                     DYQDLIDRGWRRSGKYVYKPVMNQTCCPQYTIRCRPLQFQPSKSHKKVLKKMLKFLAKG
                     EVPKGSCEDEPMDSTMDDAVAGDFALINKLDIQCDLKTLSDDIKESLESEGKNSKKEEP
                     QELLQSQDFVGEKLGSGEPSHSVKVHTVPKPGKGADLSKPPCRKAKEIRKERKRLKLMQ
                     QNPAGELEGFQAQGHPPSLFPPKAKSNQPKSLEDLIFESLPENASHKLEVRVVRSSPPS
                     SQFKATLLESYQVYKRYQMVIHKNPPDTPTESQFTRFLCSSPLEAETPPNGPDCGYGSF
                     HQQYWLDGKIIAVGVIDILPNCVSSVYLYYDPDYSFLSLGVYSALREIAFTRQLHEKTS
                     QLSYYYMGFYIHSCPKMKYKGQYRPSDLLCPETYVWVPIEQCLPSLENSKYCRFNQDPE
                     AVDEDRSTEPDRLQVFHKRAIMPYGVYKKQQKDPSEEAAVLQYASLVGQKCSERMLLFR
                     N"
     misc_feature    587..589
                     /gene="ATE1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95260.2); phosphorylation site"
     misc_feature    605..691
                     /gene="ATE1"
                     /note="propagated from UniProtKB/Swiss-Prot (O95260.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4874..4879
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATE1"
                     /note="hexamer: AATAAA"
     polyA_site      4895
                     /gene="ATE1"
                     /note="major polyA site"
ORIGIN
        1 ggcgcgctgc attgtggggt ggcggcggcg gccgcgctag cgacgcgggg ccgggcggct
       61 gagcgttcgc ggggccgagg ccatggcttt ctgggcgggg ggttcgccca gcgtcgtgga
      121 ctatttccct agcgaggact tctaccgctg cggctactgc aagaacgagt cgggcagccg
      181 ctccaatggc atgtgggcac attccatgac agtacaggat tatcaggatc tcatagaccg
      241 aggatggcga agaagtggaa aatatgtgta caaacctgtc atgaatcaaa catgttgtcc
      301 tcagtacaca ataaggtgcc gacctttaca atttcagcct tcaaaatctc acaagaaggt
      361 tttgaaaaaa atgttgaaat ttctagctaa aggggaggtt cccaaaggaa gttgtgagga
      421 tgagcccatg gattccacaa tggatgatgc tgttgcgggt gactttgcat tgataaataa
      481 actggatata cagtgtgatc ttaaaacact cagtgatgac atcaaagaga gtttagagag
      541 tgaaggaaaa aattcaaaga aagaagaacc tcaggaatta cttcagtcac aagatttcgt
      601 aggagagaag ttgggctctg gtgaaccgtc acattcagtt aaagttcaca cagttcctaa
      661 gccaggcaaa ggggctgatt tgagtaagcc tccatgtcga aaagcaaagg aaatccggaa
      721 agaaaggaaa aggttaaaac taatgcagca gaacccagct ggagaacttg agggtttcca
      781 ggctcaaggt cacccaccat ctttgtttcc accaaaggct aaatccaacc agccaaaatc
      841 actcgaagat ttaatttttg agtctttacc agagaatgca tcacacaagt tagaggtgag
      901 ggtggtgaga tcatctccac caagttcgca gttcaaagcc acacttctgg agtcttacca
      961 ggtctataaa cgttaccaga tggttattca caagaaccca cctgatacgc caaccgaaag
     1021 ccagttcaca agattccttt gcagttcacc cttggaggca gagactcccc ctaatgggcc
     1081 agattgtggc tatggctcct ttcaccagca gtactggctt gacggaaaga tcattgctgt
     1141 gggggtgatt gacatcctcc caaactgtgt atcatctgtg tatttgtact acgatcctga
     1201 ttattcgttt ttgtctttgg gcgtctactc tgcactacga gaaattgctt ttactaggca
     1261 gcttcatgag aaaacttctc aactcagcta ttattatatg ggtttctaca ttcattcatg
     1321 tcccaagatg aaatataagg gtcagtatag accttctgat ttgctgtgcc ctgagacata
     1381 tgtttgggta cccattgagc aatgcctgcc ttcacttgaa aactccaagt actgccgttt
     1441 caaccaggac ccagaagcag tggatgagga tcgcagtacg gaacctgacc gattgcaggt
     1501 gtttcacaag agagccatca tgccttacgg tgtttataag aaacagcaga aagacccaag
     1561 tgaggaggct gctgttctgc agtacgccag cctggtgggg cagaagtgct ccgagcggat
     1621 gctgctgttc agaaactgac ctgttcacct ctgccgggaa gttcctgtgt tgtgctgatg
     1681 atttgtgcca ggatacatat tcagtacctg tggggaaata actgtcacca cccacaaatt
     1741 agacattttt tattttgact atctatggct tttaaaaaat attttgtggc aatgtatctg
     1801 tgagaatctc atagttaata taaagatttt aaaactgcat tatgacctag cccccataat
     1861 tgggatttat cattttggag gattctttct agagcaagat acgctcaaat tctcctgttt
     1921 gtattttgta aaatgaagaa gtgaatctaa gtaacttaat cacagttgtg catttttttt
     1981 ggttctgtta gagaaattaa aacagactgt ttcctcaggc ccattttaaa ctgaacttat
     2041 gctaggaaac cttaagtatg gggaaggtag aaagttcatt tcatcactta gaaaatatgt
     2101 cttctcaaga acaaaactgt gctgttacaa ctcagtgttc aatgtgaaat tgctgccaaa
     2161 tgttatgtag tttaatagag aacttgaaaa aataaaacat taaaatggag cttgtgttag
     2221 catcaggtat ccatttgttc aggacagtcc tgttcatgtc tgttgtcttg gcatagtttt
     2281 ttcccctaga atatagtact cccttttact ctaaaaaata tcccagtttg gacaataaaa
     2341 tacataatta ctctagttat attatttgct ttacttctaa aaatgtaaga aattgaattt
     2401 ttttaaagaa aaatgttggt tcctgccttg atctaagtct catccaaagg aaataaatag
     2461 tcactagttt tttatcttac aactcaggac atttgtcttt ggttattaat ggaaattagt
     2521 atgtgattac tttcatagtt atgccacaaa tcacattgaa gaaggaatca ttccgacctc
     2581 tgttccagga caagagctag aacaatccat ttcttgtcct ttgatttgag agtcacagtc
     2641 agggtggctt ctgccaccct tagtaactca gagcagaggc cagccccctc cttccctcac
     2701 tttcttttgc tgagtccttt gcccacctgt caaggtggca ggcactgtgc tgggtacagg
     2761 aggacagtca gacatgtccc ttcttagcta tagtcgagct gtctgggaaa caggatgaaa
     2821 aacaggaggg ttattttctt gtgccctctt tgtcagctga tcccctcttc tgctaccagc
     2881 tatttggcca gcaagccgtt tttagtcccc actttgccca tttttctgtt ttggttcatc
     2941 gtttcttaaa agccatgtta taaaacatgg tagtttgaat cctgttgcta attttaaact
     3001 ttcctctaaa atgtactgaa ttttgacaaa aatttgaaaa tatcctcagc taactagaat
     3061 aaaaaggatc ataaaacaat gattttaaaa ctgaaatctc tagaaactca acatccaagt
     3121 cagccgcatt tcttcattca gagtgtgtgt gtcacacctg ccaaggtgct gcgtactctg
     3181 ctaaccgagc tagagtagtg agcaaagcca ttttctctga tcacaagatt ttacattttt
     3241 ctgggatttt gacctgcaaa gtagtctcgt aagagcattt gagagactta cttggaactg
     3301 ccttcagaat ctatagagcc ttttttctct ttttcctcta aaatgaaaag agcttcattt
     3361 tatgattata acaaaagtga cactgtaagc agttagaaca ttaagaagta taaataaaaa
     3421 gtaaaaatca tctacaaccc taccatactc agaaggagaa aagaactgtc atgtatgtat
     3481 acacacatac ctatgtaatt ttaatataaa tagaattatg ttctacatgc tgttttattt
     3541 cctcaacagt aaattatgga catgtctgaa atgtgaaata aatttcaaaa taaggcttca
     3601 gaaagtgtag taagtaatct ctgcattatt aaaaataagc agggtagggc tggtacttgg
     3661 ctcgcttagc atttgaatgt ccaacttggt gttatcactg tatcttccct ccatttgtct
     3721 ttgtgattag catgtaaaat ggtattcata aagatcacaa cccttgaata tcagatgaag
     3781 agaaaacttg actccaacat cttaccacaa ctctggtttc ttcctgcaga attcattttc
     3841 agaggaaaat gatgaatcat ccctgtctgt gaaccactgt gctttccttg agggtggcat
     3901 tgtaggttga caccagcaaa gactcagagt gacttgagca ttggagatcc ttctacttgg
     3961 ctgctgtatt catgcattat gttggtttga gaatagctag tgtattgatc caagtagtca
     4021 aagtgtctta aaaggacacc tatttgtcct tttgagcccc agctgagtga atactgatag
     4081 tggactagaa aagcatagtc aagaaaagtg acccaccttg ttacttgacc agcagtctag
     4141 ctgagagatc tgattttatg ttcgtaactt tctgtaaaga aagacacaag gacttttcaa
     4201 agacagttta tatctttcca aggcaggaag ctttgcattt gcaatcttag tgttgtgtcc
     4261 ctttctgatt ttcaaataca tcacacctgc cttcctgttt tgggagcaaa gatgtaattt
     4321 caattcccct tgctaccgtc cttatttaaa ttatttccat tctaagagat ttttgttatt
     4381 tttttaaatg taatctgagc acttttttgt attctaaaag atagatgata tcagataaat
     4441 atgttgtaca tttgattaaa attatttaga taaatattac tatgttgact tttaaatagc
     4501 tttatcctat ttttcattca ttttgcaaat atttgttgtg tgtagtttct taacgtgtca
     4561 gaatctatta tgtaaaagaa cctttccaga tttctgaaca gtatatgctt tgattttata
     4621 ggctttatat tatttcagta tgaataaaga taaggaatat gaaacagtta actaaaatgt
     4681 atctgtcgtt gctaacttga aaaatgaagt agaaacagtt ggaaaatgtt tgaattagaa
     4741 gttattcaag tgcacactct tttctaaaag aaagccaatg actataaggc aaaagaagtt
     4801 tgactgcatg tggtattttt tgctcttgta tatgcttttt gaacaagcta tttgataaag
     4861 cctgaatgga aaaaataaag ctgtttctat ctgca
//
LOCUS       NM_001001991            2723 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens peptidase domain containing associated with muscle
            regeneration 1 (PAMR1), transcript variant 2, mRNA.
ACCESSION   NM_001001991
VERSION     NM_001001991.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2723)
  AUTHORS   Lo PH, Tanikawa C, Katagiri T, Nakamura Y and Matsuda K.
  TITLE     Identification of novel epigenetically inactivated gene PAMR1 in
            breast carcinoma
  JOURNAL   Oncol Rep 33 (1), 267-273 (2015)
   PUBMED   25370079
  REMARK    GeneRIF: PAMR1 is a putative tumor suppressor which is frequently
            inactivated by promoter hypermethylation in breast cancer tissues.
REFERENCE   2  (bases 1 to 2723)
  AUTHORS   Wang H, St Julien KR, Stevenson DK, Hoffmann TJ, Witte JS, Lazzeroni
            LC, Krasnow MA, Quaintance CC, Oehlert JW, Jelliffe-Pawlowski LL,
            Gould JB, Shaw GM and O'Brodovich HM.
  TITLE     A genome-wide association study (GWAS) for bronchopulmonary
            dysplasia
  JOURNAL   Pediatrics 132 (2), 290-297 (2013)
   PUBMED   23897914
REFERENCE   3  (bases 1 to 2723)
  AUTHORS   Brandler WM, Morris AP, Evans DM, Scerri TS, Kemp JP, Timpson NJ, St
            Pourcain B, Smith GD, Ring SM, Stein J, Monaco AP, Talcott JB,
            Fisher SE, Webber C and Paracchini S.
  TITLE     Common variants in left/right asymmetry genes and pathways are
            associated with relative hand skill
  JOURNAL   PLoS Genet 9 (9), e1003751 (2013)
   PUBMED   24068947
REFERENCE   4  (bases 1 to 2723)
  AUTHORS   Nakayama Y, Nara N, Kawakita Y, Takeshima Y, Arakawa M, Katoh M,
            Morita S, Iwatsuki K, Tanaka K, Okamoto S, Kitamura T, Seki N,
            Matsuda R, Matsuo M, Saito K and Hara T.
  TITLE     Cloning of cDNA encoding a regeneration-associated muscle protease
            whose expression is attenuated in cell lines derived from Duchenne
            muscular dystrophy patients
  JOURNAL   Am J Pathol 164 (5), 1773-1782 (2004)
   PUBMED   15111323
  REMARK    GeneRIF: RAMP may play a role in the regeneration of skeletal
            muscle, and its down-regulation could be involved in the progression
            of Duchenne muscular dystrophy
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY358346.1, BX640676.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000619888.5/ ENSP00000483703.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX640676.1, BC089434.1 and AY358346.1.
            On Jun 2, 2019 this sequence version replaced NM_001001991.2.
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the central coding region, compared to variant 1, resulting
            in an isoform (b) that is shorter than isoform a.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2723
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..2723
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /note="peptidase domain containing associated with muscle
                     regeneration 1"
                     /db_xref="GeneID:25891"
                     /db_xref="HGNC:HGNC:24554"
     CDS             32..2194
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /note="isoform b precursor is encoded by transcript variant
                     2; regeneration associated muscle protease; inactive serine
                     protease PAMR1; regeneration-associated muscle protease
                     homolog; peptidase domain-containing protein associated
                     with muscle regeneration 1"
                     /codon_start=1
                     /product="inactive serine protease PAMR1 isoform b
                     precursor"
                     /protein_id="NP_001001991.1"
                     /db_xref="CCDS:CCDS31460.1"
                     /db_xref="GeneID:25891"
                     /db_xref="HGNC:HGNC:24554"
                     /translation="MELGCWTQLGLTFLQLLLISSLPREYTVINEACPGAEWNIMCREC
                     CEYDQIECVCPGKREVVGYTIPCCRNEENECDSCLIHPGCTIFENCKSCRNGSWGGTLD
                     DFYVKGFYCAECRAGWYGGDCMRCGQVLRAPKGQILLESYPLNAHCEWTIHAKPGFVIQ
                     LRFVMLSLEFDYMCQYDYVEVRDGDNRDGQIIKRVCGNERPAPIQSIGSSLHVLFHSDG
                     SKNFDGFHAIYEEITACSSSPCFHDGTCVLDKAGSYKCACLAGYTGQRCENLLEERNCS
                     DPGGPVNGYQKITGGPGLINGRHAKIGTVVSFFCNNSYVLSGNEKRTCQQNGEWSGKQP
                     ICIKACREPKISDLVRRRVLPMQVQSRETPLHQLYSAAFSKQKLQSAPTKKPALPFGDL
                     PMGYQHLHTQLQYECISPFYRRLGSSRRTCLRTGKWSGRAPSCIPICGKIENITAPKTQ
                     GLRWPWQAAIYRRTSGVHDGSLHKGAWFLVCSGALVNERTVVVAAHCVTDLGKVTMIKT
                     ADLKVVLGKFYRDDDRDEKTIQSLQISAIILHPNYDPILLDADIAILKLLDKARISTRV
                     QPICLAASRDLSTSFQESHITVAGWNVLADVRSPGFKNDTLRSGVVSVVDSLLCEEQHE
                     DHGIPVSVTDNMFCASWEPTAPSDICTAETGGIAAVSFPGRASPEPRWHLMGLVSWSYD
                     KTCSHRLSTAFTKVLPFKDWIERNMK"
     sig_peptide     32..94
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    1871..1873
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (Q6UXH9.1); glycosylation site"
     regulatory      2696..2701
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /note="hexamer: AATAAG"
     polyA_site      2723
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /note="major polyA site"
ORIGIN
        1 agtagacgct cgggcaccag ccgcggcaag gatggagctg ggttgctgga cgcagttggg
       61 gctcactttt cttcagctcc ttctcatctc gtccttgcca agagagtaca cagtcattaa
      121 tgaagcctgc cctggagcag agtggaatat catgtgtcgg gagtgctgtg aatatgatca
      181 gattgagtgc gtctgccccg gaaagaggga agtcgtgggt tataccatcc cttgctgcag
      241 gaatgaggag aatgagtgtg actcctgcct gatccaccca ggttgtacca tctttgaaaa
      301 ctgcaagagc tgccgaaatg gctcatgggg gggtaccttg gatgacttct atgtgaaggg
      361 gttctactgt gcagagtgcc gagcaggctg gtacggagga gactgcatgc gatgtggcca
      421 ggttctgcga gccccaaagg gtcagatttt gttggaaagc tatcccctaa atgctcactg
      481 tgaatggacc attcatgcta aacctgggtt tgtcatccaa ctaagatttg tcatgttgag
      541 cctggagttt gactacatgt gccagtatga ctatgttgag gttcgtgatg gagacaaccg
      601 cgatggccag atcatcaagc gtgtctgtgg caacgagcgg ccagctccta tccagagcat
      661 aggatcctca ctccacgtcc tcttccactc cgatggctcc aagaattttg acggtttcca
      721 tgccatttat gaggagatca cagcatgctc ctcatcccct tgtttccatg acggcacgtg
      781 cgtccttgac aaggctggat cttacaagtg tgcctgcttg gcaggctata ctgggcagcg
      841 ctgtgaaaat ctccttgaag aaagaaactg ctcagaccct gggggcccag tcaatgggta
      901 ccagaaaata acagggggcc ctgggcttat caacggacgc catgctaaaa ttggcaccgt
      961 ggtgtctttc ttttgtaaca actcctatgt tcttagtggc aatgagaaaa gaacttgcca
     1021 gcagaatgga gagtggtcag ggaaacagcc catctgcata aaagcctgcc gagaaccaaa
     1081 gatttcagac ctggtgagaa ggagagttct tccgatgcag gttcagtcaa gggagacacc
     1141 attacaccag ctatactcag cggccttcag caagcagaaa ctgcagagtg cccctaccaa
     1201 gaagccagcc cttccctttg gagatctgcc catgggatac caacatctgc atacccagct
     1261 ccagtatgag tgcatctcac ccttctaccg ccgcctgggc agcagcagga ggacatgtct
     1321 gaggactggg aagtggagtg ggcgggcacc atcctgcatc cctatctgcg ggaaaattga
     1381 gaacatcact gctccaaaga cccaagggtt gcgctggccg tggcaggcag ccatctacag
     1441 gaggaccagc ggggtgcatg acggcagcct acacaaggga gcgtggttcc tagtctgcag
     1501 cggtgccctg gtgaatgagc gcactgtggt ggtggctgcc cactgtgtta ctgacctggg
     1561 gaaggtcacc atgatcaaga cagcagacct gaaagttgtt ttggggaaat tctaccggga
     1621 tgatgaccgg gatgagaaga ccatccagag cctacagatt tctgctatca ttctgcatcc
     1681 caactatgac cccatcctgc ttgatgctga catcgccatc ctgaagctcc tagacaaggc
     1741 ccgtatcagc acccgagtcc agcccatctg cctcgctgcc agtcgggatc tcagcacttc
     1801 cttccaggag tcccacatca ctgtggctgg ctggaatgtc ctggcagacg tgaggagccc
     1861 tggcttcaag aacgacacac tgcgctctgg ggtggtcagt gtggtggact cgctgctgtg
     1921 tgaggagcag catgaggacc atggcatccc agtgagtgtc actgataaca tgttctgtgc
     1981 cagctgggaa cccactgccc cttctgatat ctgcactgca gagacaggag gcatcgcggc
     2041 tgtgtccttc ccgggacgag catctcctga gccacgctgg catctgatgg gactggtcag
     2101 ctggagctat gataaaacat gcagccacag gctctccact gccttcacca aggtgctgcc
     2161 ttttaaagac tggattgaaa gaaatatgaa atgaaccatg ctcatgcact ccttgagaag
     2221 tgtttctgta tatccgtctg tacgtgtgtc attgcgtgaa gcagtgtggg cctgaagtgt
     2281 gatttggcct gtgaacttgg ctgtgccagg gcttctgact tcagggacaa aactcagtga
     2341 agggtgagta gacctccatt gctggtaggc tgatgccgcg tccactacta ggacagccaa
     2401 ttggaagatg ccagggcttg caagaagtaa gtttcttcaa agaagaccat atacaaaacc
     2461 tctccactcc actgacctgg tggtcttccc caactttcag ttatacgaat gccatcagct
     2521 tgaccaggga agatctgggc ttcatgaggc cccttttgag gctctcaagt tctagagagc
     2581 tgcctgtggg acagcccagg gcagcagagc tgggatgtgg tgcatgcctt tgtgtacatg
     2641 gccacagtac agtctggtcc ttttccttcc ccatctcttg tacacatttt aataaaataa
     2701 gggttggctt ctgaactaca aaa
//
LOCUS       NM_001001995            3118 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens glycoprotein M6B (GPM6B), transcript variant 1, mRNA.
ACCESSION   NM_001001995
VERSION     NM_001001995.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3118)
  AUTHORS   He S, Huang Z, Li X, Ding Y, Sheng H, Liu B and Jia Z.
  TITLE     GPM6B Inhibit PCa Proliferation by Blocking Prostate Cancer Cell
            Serotonin Absorptive Capacity
  JOURNAL   Dis Markers 2020, 8810756 (2020)
   PUBMED   33294057
  REMARK    GeneRIF: GPM6B Inhibit PCa Proliferation by Blocking Prostate Cancer
            Cell Serotonin Absorptive Capacity. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3118)
  AUTHORS   Zhang X, Xie H, Chang P, Zhao H, Xia Y, Zhang L, Guo X, Huang C, Yan
            F, Hu L, Lin C, Li Y, Xiong Z, Wang X, Li G, Deng L, Wang S and Tao
            L.
  TITLE     Glycoprotein M6B Interacts with TbetaRI to Activate TGF-beta-Smad2/3
            Signaling and Promote Smooth Muscle Cell Differentiation
  JOURNAL   Stem Cells 37 (2), 190-201 (2019)
   PUBMED   30372567
  REMARK    GeneRIF: Findings demonstrate that GPM6B plays a crucial role in SMC
            differentiation and regulates SMC differentiation through the
            activation of TGF-beta-Smad2/3 signaling via direct interactions
            with TbetaRI.
REFERENCE   3  (bases 1 to 3118)
  AUTHORS   Urban P, Rabajdova MB, Varga J, Kruzliak P, Fialkovicova V,
            Durovcova E and Marekova M.
  TITLE     Vascular marker expression during the development of various types
            of gynaecological malignancy
  JOURNAL   Tumour Biol 35 (11), 11229-11235 (2014)
   PUBMED   25113253
  REMARK    GeneRIF: Increase in the expression levels of mRNA and protein for
            the Gpm6B is associated with various types of gynaecological
            malignancy.
REFERENCE   4  (bases 1 to 3118)
  AUTHORS   Charfi C, Edouard E and Rassart E.
  TITLE     Identification of GPM6A and GPM6B as potential new human lymphoid
            leukemia-associated oncogenes
  JOURNAL   Cell Oncol (Dordr) 37 (3), 179-191 (2014)
   PUBMED   24916915
  REMARK    GeneRIF: Data indicate that neuronal membrane glycoproteins GPM6A
            and GPM6B may act as novel oncogenes in the development of lymphoid
            leukemia.
REFERENCE   5  (bases 1 to 3118)
  AUTHORS   Henneke M, Wehner LE, Hennies HC, Preuss N and Gartner J.
  TITLE     Mutation analysis of the M6b gene in patients with
            Pelizaeus-Merzbacher-like syndrome
  JOURNAL   Am J Med Genet A 128A (2), 156-158 (2004)
   PUBMED   15214007
  REMARK    GeneRIF: it is unlikely that mutations in M6B have a role in
            Pelizaeus-Merzbacher-like syndrome, as examined in eight patients
REFERENCE   6  (bases 1 to 3118)
  AUTHORS   Werner H, Dimou L, Klugmann M, Pfeiffer S and Nave KA.
  TITLE     Multiple splice isoforms of proteolipid M6B in neurons and
            oligodendrocytes
  JOURNAL   Mol Cell Neurosci 18 (6), 593-605 (2001)
   PUBMED   11749036
REFERENCE   7  (bases 1 to 3118)
  AUTHORS   Yoshida M, Shan WS and Colman DR.
  TITLE     Conserved and divergent expression patterns of the proteolipid
            protein gene family in the amphibian central nervous system
  JOURNAL   J Neurosci Res 57 (1), 13-22 (1999)
   PUBMED   10397631
REFERENCE   8  (bases 1 to 3118)
  AUTHORS   Narayanan V, Olinsky S, Dahle E, Naidu S and Zoghbi HY.
  TITLE     Mutation analysis of the M6b gene in patients with Rett syndrome
  JOURNAL   Am J Med Genet 78 (2), 165-168 (1998)
   PUBMED   9674909
REFERENCE   9  (bases 1 to 3118)
  AUTHORS   Olinsky S, Loop BT, DeKosky A, Ripepi B, Weng W, Cummins J, Wenger
            SL, Yan Y, Lagenaur C and Narayanan V.
  TITLE     Chromosomal mapping of the human M6 genes
  JOURNAL   Genomics 33 (3), 532-536 (1996)
   PUBMED   8661015
REFERENCE   10  (bases 1 to 3118)
  AUTHORS   Yan Y, Lagenaur C and Narayanan V.
  TITLE     Molecular cloning of M6: identification of a PLP/DM20 gene family
  JOURNAL   Neuron 11 (3), 423-431 (1993)
   PUBMED   8398137
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.34840.1,
            SRR1660807.75799.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000316715.9/ ENSP00000316861.4
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA191910.1, BC047295.1,
            BG532134.1, AK095657.1, AL119977.1, AA991690.1, BI669888.1 and
            AC003037.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001001995.2.
            Summary: This gene encodes a membrane glycoprotein that belongs to
            the proteolipid protein family. Proteolipid protein family members
            are expressed in most brain regions and are thought to be involved
            in cellular housekeeping functions such as membrane trafficking and
            cell-to-cell communication. This protein may also be involved in
            osteoblast differentiation. Alternate splicing results in multiple
            transcript variants. Pseudogenes of this gene are located on
            chromosomes Y and 22. [provided by RefSeq, Jan 2016].
            Transcript Variant: This variant (1) encodes the longest protein
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3118
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..3118
                     /gene="GPM6B"
                     /gene_synonym="M6B"
                     /note="glycoprotein M6B"
                     /db_xref="GeneID:2824"
                     /db_xref="HGNC:HGNC:4461"
                     /db_xref="MIM:300051"
     misc_feature    61..63
                     /gene="GPM6B"
                     /gene_synonym="M6B"
                     /note="upstream in-frame stop codon"
     CDS             190..1176
                     /gene="GPM6B"
                     /gene_synonym="M6B"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protolipid M6B; neuronal membrane glycoprotein M6-b"
                     /codon_start=1
                     /product="neuronal membrane glycoprotein M6-b isoform 1"
                     /protein_id="NP_001001995.1"
                     /db_xref="CCDS:CCDS35206.1"
                     /db_xref="GeneID:2824"
                     /db_xref="HGNC:HGNC:4461"
                     /db_xref="MIM:300051"
                     /translation="MKPAMETAAEENTEQSQERKVNSRAEMEIGRYHWMYPGSKNHQYH
                     PVPTLGDRASPLSSPGCFECCIKCLGGVPYASLVATILCFSGVALFCGCGHVALAGTVA
                     ILEQHFSTNASDHALLSEVIQLMQYVIYGIASFFFLYGIILLAEGFYTTSAVKELHGEF
                     KTTACGRCISGMFVFLTYVLGVAWLGVFGFSAVPVFMFYNIWSTCEVIKSPQTNGTTGV
                     EQICVDIRQYGIIPWNAFPGKICGSALENICNTNEFYMSYHLFIVACAGAGATVIALIH
                     FLMILSSNWAYLKDASKMQAYQDIKAKEEQELQDIQSRSKEQLNSYT"
     regulatory      2578..2583
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPM6B"
                     /gene_synonym="M6B"
                     /note="hexamer: ATTAAA"
     polyA_site      2601
                     /gene="GPM6B"
                     /gene_synonym="M6B"
     regulatory      3003..3008
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPM6B"
                     /gene_synonym="M6B"
                     /note="hexamer: AATAAA"
     polyA_site      3028
                     /gene="GPM6B"
                     /gene_synonym="M6B"
                     /note="major polyA site"
     regulatory      3097..3102
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPM6B"
                     /gene_synonym="M6B"
                     /note="hexamer: AATAAA"
     polyA_site      3118
                     /gene="GPM6B"
                     /gene_synonym="M6B"
ORIGIN
        1 agagcgaaat tgacgctgac aagacttttg catcttggaa gggactgtaa tctactgtag
       61 tgaagaacag agcctctcaa tcagacgggt gtaaataaga gacggagggg agtccaaaag
      121 aaaaggaaga ggaggaaaaa caagtgtgtg ttggggggaa cagggggaaa agcatttttg
      181 gtggatggta tgaagccagc catggaaact gcagccgagg aaaatactga acaaagccaa
      241 gagagaaaag tgaacagcag agctgaaatg gaaattggca ggtaccactg gatgtaccca
      301 ggctcaaaga accaccagta ccatcccgtg ccaaccctgg gggacagggc tagccccttg
      361 agcagtccag gctgctttga atgctgcatc aagtgtctgg gaggagtccc ctacgcctcc
      421 ctggtggcca ccatcctctg cttctccggg gtggccttat tctgcggctg tgggcatgtg
      481 gctctcgcag gcaccgtggc gattcttgag caacacttct ccaccaacgc cagtgaccat
      541 gccttgctga gcgaggtgat acaactgatg cagtatgtca tctatggaat tgcgtccttt
      601 ttcttcttgt atgggatcat tctgttggca gaaggctttt acaccacaag tgcagtgaaa
      661 gaactgcacg gtgagtttaa aacaaccgct tgtggccgat gcatcagtgg aatgttcgtt
      721 ttcctcacct atgtgcttgg agtggcctgg ctgggtgtgt ttggtttctc agcggtgccc
      781 gtgtttatgt tctacaacat atggtcaact tgtgaagtca tcaagtcacc gcagaccaac
      841 gggaccacgg gtgtggagca gatctgtgtg gatatccgac aatacggtat cattccttgg
      901 aatgctttcc ccggaaaaat atgtggctct gccctggaga acatctgcaa cacaaacgag
      961 ttctacatgt cctatcacct gttcattgtg gcctgtgcag gagctggtgc caccgtcatt
     1021 gccctgatcc acttcctcat gatactgtct tctaactggg cttacttaaa ggatgcgagc
     1081 aaaatgcagg cttaccagga tatcaaagca aaggaagaac aggaactgca agatatccag
     1141 tctcggtcaa aagaacaact caattcttac acataaatgt ttgccagagt gtttcggccg
     1201 acgtatttac agctctgaca aatcatcaga cagctgctct gcagtacaga tgtgtatccc
     1261 accaaactaa tgtagatgta caaacacttc actgtctgtc tcaagctgct gggatgtatc
     1321 tctaggaaaa ccttccagtg ggtaaatctt tttctttaga acaaatattg gaggtttcat
     1381 gttagccatt ttaaaaggca acactttgac aaaatgatcg ttcatacttt gggaatttgt
     1441 ggcatgttca catttattgc tagggcaatt ctaccaagac actcaatgga atatgtcaca
     1501 ctccttaata gggacctgtg actccttaat aaggacctgt gacatgccca gcatcaaggg
     1561 ataagaccgt aaattcacat atatgccatc tgtcctcaag tgttatctac ataggaaata
     1621 aaatggaatt gatgtaaagt tccatttctg acagctgaca tttattaaac tttggatcaa
     1681 agataatgtg attcttatga ttgatttctc aaactagctt ttccctccca agtccaggac
     1741 ccattaattt cctgagccaa tcagaaatat atttttcaat aatgctaaaa ttagctacaa
     1801 ttctgctgac cctactatta aagaatctgg atgctggact cactgacaag ctttccagaa
     1861 gcaattttat aacagatttc attttaacaa aatactgatc caattttcat tattcttgag
     1921 aaatgtcagc tttgccttaa tgagtatttg ctttaaattt ctaagaattt atatcataac
     1981 tagagaccca aatatctttc acagaatttt gttccataaa tgtttttctt aattattaag
     2041 aagtgttacc ttattaaaat gaccaccatt ctaaaccatt tttcagtggt ctggatacga
     2101 agtttacagt ttcataccaa ctatctaaaa cctaattgca aattgaccac agacctctaa
     2161 cctcctactt ttatagactt gaatacttaa gtaatttaaa ttagggttgg tatttcattt
     2221 ttttcttatc taaatcttag tttcctggaa taataaagtt tgatgttcag caagagaact
     2281 gcttgagttt aagccatttt caaaagaaac ttgcctttta cattattgtg ttccagaaca
     2341 ttaagtgact gtaggtactg ggtattagtg atggtaaact ttgtgttgct ctttatgaaa
     2401 tgatccatat aactgttggg tgcatcagtg cttttcaaag gggctgctta ctatagggtt
     2461 aactatgtat attcattgtt aagagttaac ttgtggtttg gctgtttcct ggattttata
     2521 acatacatgt gcagaaatgt attcaaatga aaggaagcat acctttatca agatgctatt
     2581 aaaattgaac atcaagtata atatttcatt tggattctct tttttggtta atgcctaaaa
     2641 atgcctattt gggatttttt ttttttttta aattaagaga agctctcttc tgtgtagaac
     2701 agttgttcca aaatagctta gtgttttgtt ttcctgttgc atgacagatt taactattct
     2761 ttccagcagt ggaggtgctg tcagagtcca gtgttctaga agaggcagtg tctaaagcct
     2821 aattttactt ttctaattct ggtagctatt accaggaatt tttgaaagtt ttgtttaagt
     2881 agtctaatat tttttatgta aagagcatta aattttgcta tgtataaatt tttgtaacct
     2941 aacagtgaat caatattttc tatcagtgcc aagggcttcc tgtagttcta ttcaagtgtt
     3001 acaataaata tttgtagata atagtcaata cttgtgtatg cttattttaa agatctattt
     3061 aggtggaaat agttgtggat gtactaagag taatgaaata aaattatagc ttcattca
//
LOCUS       NM_001001998            2796 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens exosome component 10 (EXOSC10), transcript variant 1,
            mRNA.
ACCESSION   NM_001001998
VERSION     NM_001001998.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2796)
  AUTHORS   Meng ZY, Fan YC, Zhang CS, Zhang LL, Wu T, Nong MY, Wang T, Chen C
            and Jiang LH.
  TITLE     EXOSC10 is a novel hepatocellular carcinoma prognostic biomarker: a
            comprehensive bioinformatics analysis and experiment verification
  JOURNAL   PeerJ 11, e15860 (2023)
   PUBMED   37701829
  REMARK    GeneRIF: EXOSC10 is a novel hepatocellular carcinoma prognostic
            biomarker: a comprehensive bioinformatics analysis and experiment
            verification. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2796)
  AUTHORS   Chen Y, Li Y, Dai RS, Savage JC, Shinde U, Klimek J, David LL, Young
            EA, Hafner M, Sears RC, Sun XX and Dai MS.
  TITLE     The ubiquitin-specific protease USP36 SUMOylates EXOSC10 and
            promotes the nucleolar RNA exosome function in rRNA processing
  JOURNAL   Nucleic Acids Res 51 (8), 3934-3949 (2023)
   PUBMED   36912080
  REMARK    GeneRIF: The ubiquitin-specific protease USP36 SUMOylates EXOSC10
            and promotes the nucleolar RNA exosome function in rRNA processing.
REFERENCE   3  (bases 1 to 2796)
  AUTHORS   Fujiwara N, Shigemoto M, Hirayama M, Fujita KI, Seno S, Matsuda H,
            Nagahama M and Masuda S.
  TITLE     MPP6 stimulates both RRP6 and DIS3 to degrade a specified subset of
            MTR4-sensitive substrates in the human nucleus
  JOURNAL   Nucleic Acids Res 50 (15), 8779-8806 (2022)
   PUBMED   35902094
  REMARK    GeneRIF: MPP6 stimulates both RRP6 and DIS3 to degrade a specified
            subset of MTR4-sensitive substrates in the human nucleus.
REFERENCE   4  (bases 1 to 2796)
  AUTHORS   Mehta C, Fraga de Andrade I, Matson DR, Dewey CN and Bresnick EH.
  TITLE     RNA-regulatory exosome complex confers cellular survival to promote
            erythropoiesis
  JOURNAL   Nucleic Acids Res 49 (16), 9007-9025 (2021)
   PUBMED   34059908
  REMARK    GeneRIF: RNA-regulatory exosome complex confers cellular survival to
            promote erythropoiesis.
REFERENCE   5  (bases 1 to 2796)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   6  (bases 1 to 2796)
  AUTHORS   Stover C, Endo Y, Takahashi M, Lynch NJ, Constantinescu C,
            Vorup-Jensen T, Thiel S, Friedl H, Hankeln T, Hall R, Gregory S,
            Fujita T and Schwaeble W.
  TITLE     The human gene for mannan-binding lectin-associated serine
            protease-2 (MASP-2), the effector component of the lectin route of
            complement activation, is part of a tightly linked gene cluster on
            chromosome 1p36.2-3
  JOURNAL   Genes Immun 2 (3), 119-127 (2001)
   PUBMED   11426320
REFERENCE   7  (bases 1 to 2796)
  AUTHORS   Brouwer R, Allmang C, Raijmakers R, van Aarssen Y, Egberts WV,
            Petfalski E, van Venrooij WJ, Tollervey D and Pruijn GJ.
  TITLE     Three novel components of the human exosome
  JOURNAL   J Biol Chem 276 (9), 6177-6184 (2001)
   PUBMED   11110791
REFERENCE   8  (bases 1 to 2796)
  AUTHORS   Allmang C, Petfalski E, Podtelejnikov A, Mann M, Tollervey D and
            Mitchell P.
  TITLE     The yeast exosome and human PM-Scl are related complexes of 3' -->
            5' exonucleases
  JOURNAL   Genes Dev 13 (16), 2148-2158 (1999)
   PUBMED   10465791
REFERENCE   9  (bases 1 to 2796)
  AUTHORS   Bluthner M and Bautz FA.
  TITLE     Cloning and characterization of the cDNA coding for a
            polymyositis-scleroderma overlap syndrome-related nucleolar 100-kD
            protein
  JOURNAL   J Exp Med 176 (4), 973-980 (1992)
   PUBMED   1383382
REFERENCE   10  (bases 1 to 2796)
  AUTHORS   Ge Q, Frank MB, O'Brien C and Targoff IN.
  TITLE     Cloning of a complementary DNA coding for the 100-kD antigenic
            protein of the PM-Scl autoantigen
  JOURNAL   J Clin Invest 90 (2), 559-570 (1992)
   PUBMED   1644924
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC028687.1, BC073788.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000376936.9/ ENSP00000366135.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC073788.1, BC028687.1 and CA307576.1.
            On Nov 24, 2018 this sequence version replaced NM_001001998.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2796
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     gene            1..2796
                     /gene="EXOSC10"
                     /gene_synonym="p2; p3; p4; PM-Scl; PM/Scl-100; PMSCL;
                     PMSCL2; RRP6; Rrp6p"
                     /note="exosome component 10"
                     /db_xref="GeneID:5394"
                     /db_xref="HGNC:HGNC:9138"
                     /db_xref="MIM:605960"
     CDS             39..2696
                     /gene="EXOSC10"
                     /gene_synonym="p2; p3; p4; PM-Scl; PM/Scl-100; PMSCL;
                     PMSCL2; RRP6; Rrp6p"
                     /note="isoform 1 is encoded by transcript variant 1;
                     autoantigen PM-SCL; polymyositis/scleroderma autoantigen
                     100 kDa; P100 polymyositis-scleroderma overlap
                     syndrome-associated autoantigen; polymyositis/scleroderma
                     autoantigen 2"
                     /codon_start=1
                     /product="exosome component 10 isoform 1"
                     /protein_id="NP_001001998.1"
                     /db_xref="CCDS:CCDS30584.1"
                     /db_xref="GeneID:5394"
                     /db_xref="HGNC:HGNC:9138"
                     /db_xref="MIM:605960"
                     /translation="MAPPSTREPRVLSATSATKSDGEMVLPGFPDADSFVKFALGSVVA
                     VTKASGGLPQFGDEYDFYRSFPGFQAFCETQGDRLLQCMSRVMQYHGCRSNIKDRSKVT
                     ELEDKFDLLVDANDVILERVGILLDEASGVNKNQQPVLPAGLQVPKTVVSSWNRKAAEY
                     GKKAKSETFRLLHAKNIIRPQLKFREKIDNSNTPFLPKIFIKPNAQKPLPQALSKERRE
                     RPQDRPEDLDVPPALADFIHQQRTQQVEQDMFAHPYQYELNHFTPADAVLQKPQPQLYR
                     PIEETPCHFISSLDELVELNEKLLNCQEFAVDLEHHSYRSFLGLTCLMQISTRTEDFII
                     DTLELRSDMYILNESLTDPAIVKVFHGADSDIEWLQKDFGLYVVNMFDTHQAARLLNLG
                     RHSLDHLLKLYCNVDSNKQYQLADWRIRPLPEEMLSYARDDTHYLLYIYDKMRLEMWER
                     GNGQPVQLQVVWQRSRDICLKKFIKPIFTDESYLELYRKQKKHLNTQQLTAFQLLFAWR
                     DKTARREDESYGYVLPNHMMLKIAEELPKEPQGIIACCNPVPPLVRQQINEMHLLIQQA
                     REMPLLKSEVAAGVKKSGPLPSAERLENVLFGPHDCSHAPPDGYPIIPTSGSVPVQKQA
                     SLFPDEKEDNLLGTTCLIATAVITLFNEPSAEDSKKGPLTVAQKKAQNIMESFENPFRM
                     FLPSLGHRAPVSQAAKFDPSTKIYEISNRWKLAQVQVQKDSKEAVKKKAAEQTAAREQA
                     KEACKAAAEQAISVRQQVVLENAAKKRERATSDPRTTEQKQEKKRLKISKKPKDPEPPE
                     KEFTPYDYSQSDFKAFAGNSKSKVSSQFDPNKQTPSGKKCIAAKKIKQSVGNKSMSFPT
                     GKSDRGFRYNWPQR"
     misc_feature    2364..2693
                     /gene="EXOSC10"
                     /gene_synonym="p2; p3; p4; PM-Scl; PM/Scl-100; PMSCL;
                     PMSCL2; RRP6; Rrp6p"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01780.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2499..2501
                     /gene="EXOSC10"
                     /gene_synonym="p2; p3; p4; PM-Scl; PM/Scl-100; PMSCL;
                     PMSCL2; RRP6; Rrp6p"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q01780.2); phosphorylation site"
     regulatory      2775..2780
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOSC10"
                     /gene_synonym="p2; p3; p4; PM-Scl; PM/Scl-100; PMSCL;
                     PMSCL2; RRP6; Rrp6p"
                     /note="hexamer: ATTAAA"
     polyA_site      2796
                     /gene="EXOSC10"
                     /gene_synonym="p2; p3; p4; PM-Scl; PM/Scl-100; PMSCL;
                     PMSCL2; RRP6; Rrp6p"
                     /note="major polyA site"
ORIGIN
        1 gacaagctct cgcgagacga gccgtgcagg ctgaaaaaat ggcgccaccc agtacccggg
       61 agcccagggt cctgtcggcg accagcgcaa ccaaatccga cggagagatg gtgctgccag
      121 gcttcccgga cgccgacagc tttgtgaagt ttgctcttgg gtccgtggtg gcagtcacca
      181 aggcatctgg gggcctacca cagtttggcg atgagtatga tttttaccga agttttcctg
      241 gcttccaagc attttgcgaa acacagggag acaggttgct tcagtgcatg agcagagtaa
      301 tgcagtacca tgggtgtcgc agcaacatta aggatcgaag taaagtgact gagctggaag
      361 acaagtttga tttactagtt gatgccaatg atgtaattct ggagagagtg ggtattttac
      421 tggatgaagc ctcaggtgta aacaagaatc aacagcctgt cctccctgcc ggcttgcagg
      481 tccccaaaac ggtagtgtcc agctggaacc gtaaggcagc agaatatggc aaaaaagcaa
      541 aatctgaaac tttccggctg cttcatgcaa aaaatatcat ccgacctcag ctcaagtttc
      601 gagagaagat tgacaattcc aacacaccat ttcttcctaa aatcttcatc aaacccaatg
      661 ctcagaaacc tctccctcaa gctctctcta aggaaaggcg ggaacgccca caggatcgtc
      721 ctgaggactt ggacgtcccc cctgcactgg ctgatttcat ccatcagcag agaacccagc
      781 aggttgagca agacatgttt gcacatcctt atcaatatga actaaatcac tttaccccag
      841 cagatgcagt gcttcaaaag ccacaacccc agttatacag acctatagaa gagacaccat
      901 gccatttcat atcctccctg gatgaactcg tggaactcaa cgaaaagctc ttgaattgtc
      961 aggaatttgc agttgacttg gagcaccact cttacaggag cttcctggga ctgacctgcc
     1021 tgatgcaaat ttctactcgg acggaagact tcatcattga caccctcgag cttcgaagtg
     1081 acatgtacat tctcaatgag agcctcacag acccagccat cgttaaggtc tttcatggtg
     1141 ctgattcaga catagaatgg ctacagaaag actttgggtt gtatgtagta aacatgtttg
     1201 atactcatca ggcagcacgc cttcttaacc tgggcaggca ctcactcgat catctcctga
     1261 aactctactg caacgtggac tcaaacaagc aatatcagct ggctgattgg agaatacgcc
     1321 ctctgcccga ggagatgctc agctacgccc gggatgacac ccattacctg ctatatatct
     1381 atgacaaaat gaggctggag atgtgggagc gcggcaacgg gcagccggtg cagctgcagg
     1441 tggtgtggca acggagcagg gacatctgcc tcaagaaatt catcaaacct atcttcacgg
     1501 atgagtccta ccttgaactc tataggaagc agaagaagca ccttaacaca cagcagttga
     1561 cagcctttca gctgctgttt gcctggaggg ataaaacagc tcgcagggaa gatgaaagtt
     1621 acggatatgt actgccaaac cacatgatgc tgaaaatagc tgaagaactg cctaaggaac
     1681 ctcagggcat catagcttgc tgcaacccag taccgcccct tgtgcggcag cagatcaacg
     1741 aaatgcacct tttaatccag caggcccgag agatgcccct gctcaagtct gaagttgcag
     1801 ccggagtgaa gaagagcgga ccgctgccca gtgctgagag attggagaat gttctctttg
     1861 gacctcacga ctgctcccat gcccctccgg atggctatcc aatcatccca accagtggat
     1921 ctgtgccagt tcagaagcag gcgagcctct tccctgatga aaaagaagat aacttgctgg
     1981 gtaccacatg cctgattgcc acagctgtca tcacgttatt taatgaacct agtgctgaag
     2041 acagtaaaaa gggtccattg acagttgcac agaaaaaagc ccagaacatc atggagtcct
     2101 ttgaaaatcc atttaggatg tttctgccct cactgggaca ccgtgctccc gtctctcagg
     2161 cagcgaagtt cgatccatca accaaaatct atgaaatcag caaccgctgg aagctggccc
     2221 aggtacaagt acaaaaagac tctaaagaag ctgtcaagaa gaaggcagct gagcaaacag
     2281 ctgcccggga acaggcaaag gaggcgtgca aagctgcagc agaacaggcc atctccgtcc
     2341 gacagcaggt cgtgctagaa aatgctgcaa agaagagaga gcgagcaaca agcgacccaa
     2401 ggaccacaga acagaaacaa gagaagaaac gactcaaaat ttccaagaag ccaaaggacc
     2461 cagagccacc agaaaaagag tttacgcctt acgactacag ccagtcagac ttcaaggctt
     2521 ttgctggaaa cagcaaatcc aaagtttctt ctcagtttga tccaaataaa cagaccccgt
     2581 ctggcaagaa atgcattgca gccaaaaaaa ttaaacagtc ggtgggaaac aaaagcatgt
     2641 cctttccaac tggaaagtca gacagaggct tcaggtacaa ctggccacag agatagtcct
     2701 ggaagacacg tggcgcctgt ggaccggaag caccaaatgc tggtgctgct tttgtacata
     2761 catattttta aaccattaaa attcttcctg aagaaa
//
LOCUS       NM_001002               1105 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein lateral stalk subunit P0 (RPLP0),
            transcript variant 1, mRNA.
ACCESSION   NM_001002
VERSION     NM_001002.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1105)
  AUTHORS   Wang YL, Zhao WW, Bai SM, Ma Y, Yin XK, Feng LL, Zeng GD, Wang F,
            Feng WX, Zheng J, Wang YN, Zeng B, Liu Q, Hung MC and Wan XB.
  TITLE     DNA damage-induced paraspeckle formation enhances DNA repair and
            tumor radioresistance by recruiting ribosomal protein P0
  JOURNAL   Cell Death Dis 13 (8), 709 (2022)
   PUBMED   35974014
  REMARK    GeneRIF: DNA damage-induced paraspeckle formation enhances DNA
            repair and tumor radioresistance by recruiting ribosomal protein P0.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1105)
  AUTHORS   Borrello MT, Santofimia-Castano P, Bocchio M, Listi A, Fraunhoffer
            N, Soubeyran P, Chevet E, Pin C and Iovanna J.
  TITLE     NUPR1 interacts with eIF2alpha and is required for resolution of the
            ER stress response in pancreatic tissue
  JOURNAL   FEBS J 288 (13), 4081-4097 (2021)
   PUBMED   33403797
REFERENCE   3  (bases 1 to 1105)
  AUTHORS   Filipek K, Michalec-Wawiorka B, Boguszewska A, Kmiecik S and
            Tchorzewski M.
  TITLE     Phosphorylation of the N-terminal domain of ribosomal P-stalk
            protein uL10 governs its association with the ribosome
  JOURNAL   FEBS Lett 594 (18), 3002-3019 (2020)
   PUBMED   32668052
  REMARK    GeneRIF: Phosphorylation of the N-terminal domain of ribosomal
            P-stalk protein uL10 governs its association with the ribosome.
REFERENCE   4  (bases 1 to 1105)
  AUTHORS   Derylo K, Michalec-Wawiorka B, Krokowski D, Wawiorka L, Hatzoglou M
            and Tchorzewski M.
  TITLE     The uL10 protein, a component of the ribosomal P-stalk, is released
            from the ribosome in nucleolar stress
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1865 (1), 34-47 (2018)
   PUBMED   28986221
  REMARK    GeneRIF: The presence of uL10 on the ribosomes is affected in
            stressed cells, thus it might be considered as a regulatory element
            responding to environmental fluctuations.
REFERENCE   5  (bases 1 to 1105)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 1105)
  AUTHORS   Gress TM, Muller-Pillasch F, Geng M, Zimmerhackl F, Zehetner G,
            Friess H, Buchler M, Adler G and Lehrach H.
  TITLE     A pancreatic cancer-specific expression profile
  JOURNAL   Oncogene 13 (8), 1819-1830 (1996)
   PUBMED   8895530
REFERENCE   7  (bases 1 to 1105)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   8  (bases 1 to 1105)
  AUTHORS   Dawson SJ and White LA.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   9  (bases 1 to 1105)
  AUTHORS   Rich BE and Steitz JA.
  TITLE     Human acidic ribosomal phosphoproteins P0, P1, and P2: analysis of
            cDNA clones, in vitro synthesis, and assembly
  JOURNAL   Mol Cell Biol 7 (11), 4065-4074 (1987)
   PUBMED   3323886
REFERENCE   10  (bases 1 to 1105)
  AUTHORS   Towbin,H., Ramjoue,H.P., Kuster,H., Liverani,D. and Gordon,J.
  TITLE     Monoclonal antibodies against eucaryotic ribosomes. Use to
            characterize a ribosomal protein not previously identified and
            antigenically related to the acidic phosphoproteins P1/P2
  JOURNAL   J Biol Chem 257 (21), 12709-12715 (1982)
   PUBMED   6182142
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189661.187834.1,
            SRR5189664.41454.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2150385 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000392514.9/ ENSP00000376299.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BF131912.1, BC000087.2, BC019014.2 and AC004263.1.
            On Nov 23, 2018 this sequence version replaced NM_001002.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein, which
            is the functional equivalent of the E. coli L10 ribosomal protein,
            belongs to the L10P family of ribosomal proteins. It is a neutral
            phosphoprotein with a C-terminal end that is nearly identical to
            the C-terminal ends of the acidic ribosomal phosphoproteins P1 and
            P2. The P0 protein can interact with P1 and P2 to form a pentameric
            complex consisting of P1 and P2 dimers, and a P0 monomer. The
            protein is located in the cytoplasm. Transcript variants derived
            from alternative splicing exist; they encode the same protein. As
            is typical for genes encoding ribosomal proteins, there are
            multiple processed pseudogenes of this gene dispersed through the
            genome. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) is the predominant transcript.
            It has a different 5' UTR than variant 2. They encode the same
            protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1105
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.23"
     gene            1..1105
                     /gene="RPLP0"
                     /gene_synonym="L10E; LP0; P0; PRLP0; RPP0; uL10"
                     /note="ribosomal protein lateral stalk subunit P0"
                     /db_xref="GeneID:6175"
                     /db_xref="HGNC:HGNC:10371"
                     /db_xref="MIM:180510"
     misc_feature    5
                     /gene="RPLP0"
                     /gene_synonym="L10E; LP0; P0; PRLP0; RPP0; uL10"
                     /note="predominant transcription initiation site"
     misc_feature    63..65
                     /gene="RPLP0"
                     /gene_synonym="L10E; LP0; P0; PRLP0; RPP0; uL10"
                     /note="upstream in-frame stop codon"
     CDS             78..1031
                     /gene="RPLP0"
                     /gene_synonym="L10E; LP0; P0; PRLP0; RPP0; uL10"
                     /note="acidic ribosomal phosphoprotein P0; 60S acidic
                     ribosomal protein P0; 60S ribosomal protein L10E; ribosomal
                     protein, large, P0; neutral ribosomal phosphoprotein P0"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL10"
                     /protein_id="NP_000993.1"
                     /db_xref="CCDS:CCDS9193.1"
                     /db_xref="GeneID:6175"
                     /db_xref="HGNC:HGNC:10371"
                     /db_xref="MIM:180510"
                     /translation="MPREDRATWKSNYFLKIIQLLDDYPKCFIVGADNVGSKQMQQIRM
                     SLRGKAVVLMGKNTMMRKAIRGHLENNPALEKLLPHIRGNVGFVFTKEDLTEIRDMLLA
                     NKVPAAARAGAIAPCEVTVPAQNTGLGPEKTSFFQALGITTKISRGTIEILSDVQLIKT
                     GDKVGASEATLLNMLNISPFSFGLVIQQVFDNGSIYNPEVLDITEETLHSRFLEGVRNV
                     ASVCLQIGYPTVASVPHSIINGYKRVLALSVETDYTFPLAEKVKAFLADPSAFVAAAPV
                     AAATTAAPAAAAAPAKVEAKEESEESDEDMGFGLFD"
     misc_feature    147..149
                     /gene="RPLP0"
                     /gene_synonym="L10E; LP0; P0; PRLP0; RPP0; uL10"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P14869; propagated from
                     UniProtKB/Swiss-Prot (P05388.1); phosphorylation site"
     misc_feature    252..254
                     /gene="RPLP0"
                     /gene_synonym="L10E; LP0; P0; PRLP0; RPP0; uL10"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05388.1); phosphorylation site"
     misc_feature    957..1028
                     /gene="RPLP0"
                     /gene_synonym="L10E; LP0; P0; PRLP0; RPP0; uL10"
                     /note="propagated from UniProtKB/Swiss-Prot (P05388.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    987..989
                     /gene="RPLP0"
                     /gene_synonym="L10E; LP0; P0; PRLP0; RPP0; uL10"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P05388.1); phosphorylation site"
     misc_feature    996..998
                     /gene="RPLP0"
                     /gene_synonym="L10E; LP0; P0; PRLP0; RPP0; uL10"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (P05388.1); phosphorylation site"
     regulatory      1079..1084
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPLP0"
                     /gene_synonym="L10E; LP0; P0; PRLP0; RPP0; uL10"
                     /note="hexamer: AATAAA"
     polyA_site      1105
                     /gene="RPLP0"
                     /gene_synonym="L10E; LP0; P0; PRLP0; RPP0; uL10"
                     /note="major polyA site"
ORIGIN
        1 ccttctctcg ccaggcgtcc tcgtggaagt gacatcgtct ttaaaccctg cgtggcaatc
       61 cctgacgcac cgccgtgatg cccagggaag acagggcgac ctggaagtcc aactacttcc
      121 ttaagatcat ccaactattg gatgattatc cgaaatgttt cattgtggga gcagacaatg
      181 tgggctccaa gcagatgcag cagatccgca tgtcccttcg cgggaaggct gtggtgctga
      241 tgggcaagaa caccatgatg cgcaaggcca tccgagggca cctggaaaac aacccagctc
      301 tggagaaact gctgcctcat atccggggga atgtgggctt tgtgttcacc aaggaggacc
      361 tcactgagat cagggacatg ttgctggcca ataaggtgcc agctgctgcc cgtgctggtg
      421 ccattgcccc atgtgaagtc actgtgccag cccagaacac tggtctcggg cccgagaaga
      481 cctccttttt ccaggcttta ggtatcacca ctaaaatctc caggggcacc attgaaatcc
      541 tgagtgatgt gcagctgatc aagactggag acaaagtggg agccagcgaa gccacgctgc
      601 tgaacatgct caacatctcc cccttctcct ttgggctggt catccagcag gtgttcgaca
      661 atggcagcat ctacaaccct gaagtgcttg atatcacaga ggaaactctg cattctcgct
      721 tcctggaggg tgtccgcaat gttgccagtg tctgtctgca gattggctac ccaactgttg
      781 catcagtacc ccattctatc atcaacgggt acaaacgagt cctggccttg tctgtggaga
      841 cggattacac cttcccactt gctgaaaagg tcaaggcctt cttggctgat ccatctgcct
      901 ttgtggctgc tgcccctgtg gctgctgcca ccacagctgc tcctgctgct gctgcagccc
      961 cagctaaggt tgaagccaag gaagagtcgg aggagtcgga cgaggatatg ggatttggtc
     1021 tctttgacta atcaccaaaa agcaaccaac ttagccagtt ttatttgcaa aacaaggaaa
     1081 taaaggctta cttctttaaa aagtc
//
LOCUS       NM_001002002            1595 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens guanosine monophosphate reductase 2 (GMPR2), transcript
            variant 4, mRNA.
ACCESSION   NM_001002002
VERSION     NM_001002002.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1595)
  AUTHORS   Baker BG, Ball GR, Rakha EA, Nolan CC, Caldas C, Ellis IO and Green
            AR.
  TITLE     Lack of expression of the proteins GMPR2 and PPARalpha are
            associated with the basal phenotype and patient outcome in breast
            cancer
  JOURNAL   Breast Cancer Res Treat 137 (1), 127-137 (2013)
   PUBMED   23208589
  REMARK    GeneRIF: Loss of expression of GMPR2 and PPARalpha is associated
            with breast cancer basal phenotype; indicating that they may play a
            role in carcinogenesis.
REFERENCE   2  (bases 1 to 1595)
  AUTHORS   Patton GC, Stenmark P, Gollapalli DR, Sevastik R, Kursula P, Flodin
            S, Schuler H, Swales CT, Eklund H, Himo F, Nordlund P and Hedstrom
            L.
  TITLE     Cofactor mobility determines reaction outcome in the IMPDH and GMPR
            (beta-alpha)8 barrel enzymes
  JOURNAL   Nat Chem Biol 7 (12), 950-958 (2011)
   PUBMED   22037469
  REMARK    GeneRIF: A single crystal structure of human GMPR type 2 with IMP
            and NADPH fortuitously captures three different states, each of
            which mimics a distinct step in the catalytic cycle of guanosine
            monophosphate reductase(GMPR). Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1595)
  AUTHORS   Zhang J, Zhang W, Zou D, Chen G, Wan T, Zhang M and Cao X.
  TITLE     Cloning and functional characterization of GMPR2, a novel human
            guanosine monophosphate reductase, which promotes the monocytic
            differentiation of HL-60 leukemia cells
  JOURNAL   J Cancer Res Clin Oncol 129 (2), 76-83 (2003)
   PUBMED   12669231
  REMARK    GeneRIF: GMPR2 is a novel human GMP reductase, and overexpression of
            GMPR2 can promote the monocytic differentiation of HL-60 leukemia
            cells.
REFERENCE   4  (bases 1 to 1595)
  AUTHORS   Deng Y, Wang Z, Ying K, Gu S, Ji C, Huang Y, Gu X, Wang Y, Xu Y, Li
            Y, Xie Y and Mao Y.
  TITLE     NADPH-dependent GMP reductase isoenzyme of human (GMPR2).
            Expression, purification, and kinetic properties
  JOURNAL   Int J Biochem Cell Biol 34 (9), 1035-1050 (2002)
   PUBMED   12009299
  REMARK    GeneRIF: Data suggest the existence of two distinct types of human
            GMP reductase molecular species, which can be used to explain the
            bimodal saturation curve noted with purified human erythrocyte GMP
            reductase.
REFERENCE   5  (bases 1 to 1595)
  AUTHORS   Spector,T., Jones,T.E. and Miller,R.L.
  TITLE     Reaction mechanism and specificity of human GMP reductase.
            Substrates, inhibitors, activators, and inactivators
  JOURNAL   J Biol Chem 254 (7), 2308-2315 (1979)
   PUBMED   218932
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC009832.2, SRR5189655.115351.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000399440.7/ ENSP00000382369.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP347823.1 and BC009832.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001002002.2.
            Summary: This gene encodes an enzyme that catalyzes the
            irreversible and NADPH-dependent reductive deamination of guanosine
            monophosphate (GMP) to inosine monophosphate (IMP). The protein
            also functions in the re-utilization of free intracellular bases
            and purine nucleosides. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Apr 2017].
            Transcript Variant: This variant (4) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream in-frame start codon, compared to variant 1. The encoded
            isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 3,
            and 4 encode the same isoform (2).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1595
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     gene            1..1595
                     /gene="GMPR2"
                     /gene_synonym="GMPR 2"
                     /note="guanosine monophosphate reductase 2"
                     /db_xref="GeneID:51292"
                     /db_xref="HGNC:HGNC:4377"
                     /db_xref="MIM:610781"
     misc_feature    43..45
                     /gene="GMPR2"
                     /gene_synonym="GMPR 2"
                     /note="upstream in-frame stop codon"
     CDS             85..1131
                     /gene="GMPR2"
                     /gene_synonym="GMPR 2"
                     /EC_number="1.7.1.7"
                     /note="isoform 2 is encoded by transcript variant 4;
                     guanosine monophosphate reductase isolog; GMP reductase 2;
                     guanosine 5'-monophosphate oxidoreductase 2"
                     /codon_start=1
                     /product="GMP reductase 2 isoform 2"
                     /protein_id="NP_001002002.1"
                     /db_xref="CCDS:CCDS41935.1"
                     /db_xref="GeneID:51292"
                     /db_xref="HGNC:HGNC:4377"
                     /db_xref="MIM:610781"
                     /translation="MPHIDNDVKLDFKDVLLRPKRSTLKSRSEVDLTRSFSFRNSKQTY
                     SGVPIIAANMDTVGTFEMAKVLCKFSLFTAVHKHYSLVQWQEFAGQNPDCLEHLAASSG
                     TGSSDFEQLEQILEAIPQVKYICLDVANGYSEHFVEFVKDVRKRFPQHTIMAGNVVTGE
                     MVEELILSGADIIKVGIGPGSVCTTRKKTGVGYPQLSAVMECADAAHGLKGHIISDGGC
                     SCPGDVAKAFGAGADFVMLGGMLAGHSESGGELIERDGKKYKLFYGMSSEMAMKKYAGG
                     VAEYRASEGKTVEVPFKGDVEHTIRDILGGIRSTCTYVGAAKLKELSRRTTFIRVTQQV
                     NPIFSEAC"
     misc_feature    955..957
                     /gene="GMPR2"
                     /gene_synonym="GMPR 2"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9P2T1.1); acetylation site"
     regulatory      1568..1573
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GMPR2"
                     /gene_synonym="GMPR 2"
                     /note="hexamer: AATAAA"
     polyA_site      1595
                     /gene="GMPR2"
                     /gene_synonym="GMPR 2"
                     /note="major polyA site"
ORIGIN
        1 ctcttgcccc attgctcttt gcaggggtag aagaaggaag tgtagcgggc cctcagattc
       61 atcgctaccc cgaggctaag cgccatgcct catattgaca acgatgtgaa actggacttc
      121 aaggatgtcc ttttgaggcc caaacgcagt acccttaagt ctcgaagtga ggtggatctc
      181 acaagatcct tttcatttcg gaactcaaag cagacatact ctggggttcc catcattgct
      241 gccaatatgg atactgtggg cacctttgag atggccaagg ttctctgtaa gttctctctc
      301 ttcactgctg tccataagca ctatagcctc gttcagtggc aagagtttgc tggccagaat
      361 cctgactgtc ttgagcatct ggctgccagc tcaggcacag gctcttctga ctttgagcag
      421 ctggaacaga tcctggaagc tattccccag gtgaagtata tatgcctgga tgtggcaaat
      481 ggctactctg aacactttgt tgaatttgta aaagatgtac ggaagcgctt cccccagcac
      541 accatcatgg cagggaatgt ggtaacagga gagatggtag aagagctcat cctttctggg
      601 gctgacatca tcaaagtggg aattgggcca ggctctgtgt gtactactcg gaagaaaact
      661 ggagtggggt atccacagct cagcgcagtg atggagtgtg cagatgctgc tcatggcctc
      721 aaaggccaca tcatttcaga tggaggttgc agctgtcctg gggatgtggc caaggctttt
      781 ggggcaggag ctgacttcgt gatgctgggt ggcatgctgg ctgggcacag tgagtcaggt
      841 ggtgagctca tcgagaggga tggcaagaag tacaagctct tctatggaat gagttctgaa
      901 atggccatga agaagtatgc tgggggcgtg gctgagtaca gagcctcaga gggaaagaca
      961 gtggaagttc cttttaaagg agatgtggaa cataccatcc gagacatcct aggagggatc
     1021 cgctctacgt gtacctatgt gggagcagct aagctcaaag agttgagcag gagaactacc
     1081 ttcatccgag tcacccagca ggtgaatcca atcttcagtg aggcgtgcta gacctgagca
     1141 gttctaccct cccaaggcac cagtactcta ccatggggca tcccaagtgg ggtcctcacc
     1201 catcccagct actgcagctc tgtattactt tgtcatttcc tgttgtctca ctcctgaggg
     1261 ctcctgcagt aactctgtac ttctctatct gcacacacaa aatgcccaag gcactcactg
     1321 gggaggaagc aaggaagcaa acagtctgag aaaatgatgc aagaaaatca aatgggaatc
     1381 tggggaccca acacaacatc ctgaagatta ttaaaaggaa aagatgctga ttggtacata
     1441 aatcttttac atggccttgg tctagaggag gcaggctttt agaatcatgt tttgttaatc
     1501 cgcttcacta aattggacct tcacatatct aaaaagctct gaagtgtttg tatatttgaa
     1561 atacctcaat aaagagagag ctcattgact gtaaa
//
LOCUS       NM_001002010            1667 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens 5'-nucleotidase, cytosolic IIIA (NT5C3A), transcript
            variant 1, mRNA.
ACCESSION   NM_001002010
VERSION     NM_001002010.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1667)
  AUTHORS   Li Y, Zhao X, Hu XR, Li JP, Xiong YZ, Sun XX, Ye L, Yang Y, Li Y,
            Yang WR, Peng GX, Fan HH, Zhou K, Jing LP, Zhang FK and Zhang L.
  TITLE     [Two novel mutations (c.830A>G, c.252+1G>A) in NT5C3A associated
            with hereditary pyrimidine 5'-nucleotidase deficiency: two cases
            report and literature review]
  JOURNAL   Zhonghua Xue Ye Xue Za Zhi 42 (8), 680-682 (2021)
   PUBMED   34547876
  REMARK    GeneRIF: [Two novel mutations (c.830A>G, c.252+1G>A) in NT5C3A
            associated with hereditary pyrimidine 5'-nucleotidase deficiency:
            two cases report and literature review]. Review article
REFERENCE   2  (bases 1 to 1667)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1667)
  AUTHORS   Koker SA, Oymak Y, Bianchi P, Fermo E, Karapinar TH, Gozmen S, Ay Y
            and Vergin RC.
  TITLE     A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the
            NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase Deficiency: A
            Case Report
  JOURNAL   J Pediatr Hematol Oncol 41 (8), e484-e486 (2019)
   PUBMED   30951028
  REMARK    GeneRIF: A New Homozygous Mutation (c.393-394del TA/c.393-394del TA)
            in the NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase
            Deficiency.
REFERENCE   4  (bases 1 to 1667)
  AUTHORS   Aksoy P, Zhu MJ, Kalari KR, Moon I, Pelleymounter LL, Eckloff BW,
            Wieben ED, Yee VC, Weinshilboum RM and Wang L.
  TITLE     Cytosolic 5'-nucleotidase III (NT5C3): gene sequence variation and
            functional genomics
  JOURNAL   Pharmacogenet Genomics 19 (8), 567-576 (2009)
   PUBMED   19623099
  REMARK    GeneRIF: genetic variation in NT5C3 might affect protein function
            and potentially influence drug response
REFERENCE   5  (bases 1 to 1667)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   6  (bases 1 to 1667)
  AUTHORS   Marinaki AM, Escuredo E, Duley JA, Simmonds HA, Amici A, Naponelli
            V, Magni G, Seip M, Ben-Bassat I, Harley EH, Thein SL and Rees DC.
  TITLE     Genetic basis of hemolytic anemia caused by pyrimidine 5'
            nucleotidase deficiency
  JOURNAL   Blood 97 (11), 3327-3332 (2001)
   PUBMED   11369620
REFERENCE   7  (bases 1 to 1667)
  AUTHORS   Amici A, Emanuelli M, Raffaelli N, Ruggieri S, Saccucci F and Magni
            G.
  TITLE     Human erythrocyte pyrimidine 5-nucleotidase, PN-I, is identical to
            p36, a protein associated to lupus inclusion formation in response
            to alpha-interferon
  JOURNAL   Blood 96 (4), 1596-1598 (2000)
   PUBMED   10942414
REFERENCE   8  (bases 1 to 1667)
  AUTHORS   Amici A, Emanuelli M, Magni G, Raffaelli N and Ruggieri S.
  TITLE     Pyrimidine nucleotidases from human erythrocyte possess
            phosphotransferase activities specific for pyrimidine nucleotides
  JOURNAL   FEBS Lett 419 (2-3), 263-267 (1997)
   PUBMED   9428647
REFERENCE   9  (bases 1 to 1667)
  AUTHORS   Rich SA, Bose M, Tempst P and Rudofsky UH.
  TITLE     Purification, microsequencing, and immunolocalization of p36, a new
            interferon-alpha-induced protein that is associated with human lupus
            inclusions
  JOURNAL   J Biol Chem 271 (2), 1118-1126 (1996)
   PUBMED   8557639
REFERENCE   10  (bases 1 to 1667)
  AUTHORS   Amici A, Emanuelli M, Ferretti E, Raffaelli N, Ruggieri S and Magni
            G.
  TITLE     Homogeneous pyrimidine nucleotidase from human erythrocytes: enzymic
            and molecular properties
  JOURNAL   Biochem J 304 (Pt 3) (Pt 3), 987-992 (1994)
   PUBMED   7818506
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF151067.1, AK290118.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000610140.7/ ENSP00000476480.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY012697.1, AK290118.1,
            AF151067.1 and AA482595.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 30, 2019 this sequence version replaced NM_001002010.4.
            Summary: This gene encodes a member of the 5'-nucleotidase family
            of enzymes that catalyze the dephosphorylation of nucleoside
            5'-monophosphates. The encoded protein is the type 1 isozyme of
            pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of
            pyrimidine 5' monophosphates. Mutations in this gene are a cause of
            hemolytic anemia due to uridine 5-prime monophosphate hydrolase
            deficiency. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene, and pseudogenes
            of this gene are located on the long arm of chromosomes 3 and 4.
            [provided by RefSeq, Mar 2012].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1667
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..1667
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; hUMP1; NT5C3; p36; P5'N-1; P5N-1;
                     PN-I; POMP; PSN1; UMPH; UMPH1"
                     /note="5'-nucleotidase, cytosolic IIIA"
                     /db_xref="GeneID:51251"
                     /db_xref="HGNC:HGNC:17820"
                     /db_xref="MIM:606224"
     misc_feature    57..59
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; hUMP1; NT5C3; p36; P5'N-1; P5N-1;
                     PN-I; POMP; PSN1; UMPH; UMPH1"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MRAPS"
     CDS             72..1067
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; hUMP1; NT5C3; p36; P5'N-1; P5N-1;
                     PN-I; POMP; PSN1; UMPH; UMPH1"
                     /EC_number="3.1.3.5"
                     /EC_number="3.1.3.91"
                     /note="isoform 1 is encoded by transcript variant 1;
                     pyrimidine 5'-nucleotidase 1; cytosolic 5'-nucleotidase 3;
                     uridine 5'-monophosphate hydrolase 1; lupin;
                     5'-nucleotidase, cytosolic III; cytosolic 5'-nucleotidase
                     3A; 7-methylguanosine phosphate-specific 5'-nucleotidase"
                     /codon_start=1
                     /product="cytosolic 5'-nucleotidase 3A isoform 1"
                     /protein_id="NP_001002010.2"
                     /db_xref="CCDS:CCDS34616.2"
                     /db_xref="GeneID:51251"
                     /db_xref="HGNC:HGNC:17820"
                     /db_xref="MIM:606224"
                     /translation="MDRAAVARVGAVASASVCALVAGVVLAQYIFTLKRKTGRKTKIIE
                     MMPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRCPTCHNI
                     IDNCKLVTDECRKKLLQLKEKYYAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQALPKA
                     KLKEIVAESDVMLKEGYENFFDKLQQHSIPVFIFSAGIGDVLEEVIRQAGVYHPNVKVV
                     SNFMDFDETGVLKGFKGELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQGDLRMAD
                     GVANVEHILKIGYLNDRVDELLEKYMDSYDIVLVQDESLEVANSILQKIL"
     regulatory      1639..1644
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; hUMP1; NT5C3; p36; P5'N-1; P5N-1;
                     PN-I; POMP; PSN1; UMPH; UMPH1"
                     /note="hexamer: AATAAA"
     polyA_site      1667
                     /gene="NT5C3A"
                     /gene_synonym="cN-III; hUMP1; NT5C3; p36; P5'N-1; P5N-1;
                     PN-I; POMP; PSN1; UMPH; UMPH1"
                     /note="major polyA site"
ORIGIN
        1 gcttccgaga ctcgcagtct acgcgagctg cctgtttttt tcctgcttgg acgcgcatga
       61 gggccccgtc catggaccgc gcggccgtgg cgagggtggg cgcggtagcg agcgccagcg
      121 tgtgcgccct ggtggcgggg gtggtgctgg ctcagtacat attcaccttg aagaggaaga
      181 cggggcggaa gaccaagatc atcgagatga tgccagaatt ccagaaaagt tcagttcgaa
      241 tcaagaaccc tacaagagta gaagaaatta tctgtggtct tatcaaagga ggagctgcca
      301 aacttcagat aataacggac tttgatatga cactcagtag attttcatat aaagggaaaa
      361 gatgcccaac atgtcataat atcattgaca actgtaagct ggttacagat gaatgtagaa
      421 aaaagttatt gcaactaaag gaaaaatatt acgctattga agttgatcct gttcttactg
      481 tagaagagaa gtacccttat atggtggaat ggtatactaa atcacatggt ttgcttgttc
      541 agcaagcttt accaaaagct aaacttaaag aaattgtggc agaatctgac gttatgctca
      601 aagaaggata tgagaatttc tttgataagc tccaacaaca tagcatcccc gtgttcatat
      661 tttcggctgg aatcggcgat gtactagagg aagttattcg tcaagctggt gtttatcatc
      721 ccaatgtcaa agttgtgtcc aattttatgg attttgatga aactggggtg ctcaaaggat
      781 ttaaaggaga actaattcat gtatttaaca aacatgatgg tgccttgagg aatacagaat
      841 atttcaatca actaaaagac aatagtaaca taattcttct gggagactcc caaggagact
      901 taagaatggc agatggagtg gccaatgttg agcacattct gaaaattgga tatctaaatg
      961 atagagtgga tgagctttta gaaaagtaca tggactctta tgatattgtt ttagtacaag
     1021 atgaatcatt agaagtagcc aactctattt tacagaagat tctataaaca agcattctcc
     1081 aagaagacct ctctcctgtg ggtgcaattg aactgttcat ccgttcatct tgctgagaga
     1141 cttatttata atatatcctt actctcgaag tgttcccttt gtataactga agtattttca
     1201 gatatggtga atgcattgac tggaagctcc ttttctccac ctctctcaac acactcctca
     1261 ccgtatcttt taacccattt aaaaaaaaaa aaaagctaaa attagaaaaa taactcccta
     1321 cttttccaaa gtgaattttg tagtttaatg ttatcatgca gcttttgagg agtcttttac
     1381 actgggaaag tttgtagaaa ttttaaaata agttttatga aatggtgaaa taatatgcat
     1441 gattttaagt attgccattt ttgtaatttg ggttattatg ctgatggtat caccatctct
     1501 tgaaattgtg ttaggtttgg ttattttgtc tggggaaaaa atatttactg gaaaagacta
     1561 gcagttagtg ttggaaaaac ctggtggtgt ttacaatgtt gctaatcatt acaaaacatt
     1621 ctatattgaa gcactgataa taaatatgaa atgcaaaacc tttttaa
//
LOCUS       NM_001002029            5427 bp    mRNA    linear   PRI 26-JUN-2023
DEFINITION  Homo sapiens complement C4B (Chido blood group) (C4B), mRNA.
ACCESSION   NM_001002029
VERSION     NM_001002029.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5427)
  AUTHORS   Li S, Qiu Y, Yu J, Shao M, Li Y, Cao W and Sun X.
  TITLE     Serum complement component 3, complement component 4 and complement
            component 1q levels predict progressive visual field loss in older
            women with primary angle closure glaucoma
  JOURNAL   Br J Ophthalmol 107 (6), 828-835 (2023)
   PUBMED   35017157
  REMARK    GeneRIF: Serum complement component 3, complement component 4 and
            complement component 1q levels predict progressive visual field loss
            in older women with primary angle closure glaucoma.
REFERENCE   2  (bases 1 to 5427)
  AUTHORS   Sulzen H, Began J, Dhillon A, Kereiche S, Pompach P, Votrubova J,
            Zahedifard F, Subrtova A, Safner M, Hubalek M, Thompson M, Zoltner M
            and Zoll S.
  TITLE     Cryo-EM structures of Trypanosoma brucei gambiense ISG65 with human
            complement C3 and C3b and their roles in alternative pathway
            restriction
  JOURNAL   Nat Commun 14 (1), 2403 (2023)
   PUBMED   37105991
  REMARK    GeneRIF: Cryo-EM structures of Trypanosoma brucei gambiense ISG65
            with human complement C3 and C3b and their roles in alternative
            pathway restriction. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5427)
  AUTHORS   Lin L, Wu Y, Hang H, Lu J and Ding Y.
  TITLE     Plasma Complement 3 and Complement 4 Are Promising Biomarkers for
            Distinguishing NMOSD From MOGAD and Are Associated With the
            Blood-Brain-Barrier Disruption in NMOSD
  JOURNAL   Front Immunol 13, 853891 (2022)
   PUBMED   35898513
  REMARK    GeneRIF: Plasma Complement 3 and Complement 4 Are Promising
            Biomarkers for Distinguishing NMOSD From MOGAD and Are Associated
            With the Blood-Brain-Barrier Disruption in NMOSD. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 5427)
  AUTHORS   Yang Z, Mendoza AR, Welch TR, Zipf WB and Yu CY.
  TITLE     Modular variations of the human major histocompatibility complex
            class III genes for serine/threonine kinase RP, complement component
            C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX
            module). A mechanism for gene deletions and disease associations
  JOURNAL   J Biol Chem 274 (17), 12147-12156 (1999)
   PUBMED   10207042
REFERENCE   5  (bases 1 to 5427)
  AUTHORS   Yu CY.
  TITLE     The complete exon-intron structure of a human complement component
            C4A gene. DNA sequences, polymorphism, and linkage to the
            21-hydroxylase gene
  JOURNAL   J Immunol 146 (3), 1057-1066 (1991)
   PUBMED   1988494
REFERENCE   6  (bases 1 to 5427)
  AUTHORS   Hessing M, van 't Veer C, Hackeng TM, Bouma BN and Iwanaga S.
  TITLE     Importance of the alpha 3-fragment of complement C4 for the binding
            with C4b-binding protein
  JOURNAL   FEBS Lett 271 (1-2), 131-136 (1990)
   PUBMED   1699796
REFERENCE   7  (bases 1 to 5427)
  AUTHORS   Palsdottir,A., Fossdal,R., Arnason,A., Edwards,J.H. and Jensson,O.
  TITLE     Heterogeneity of human C4 gene size. A large intron (6.5 kb) is
            present in all C4A genes and some C4B genes
  JOURNAL   Immunogenetics 25 (5), 299-304 (1987)
   PUBMED   2883116
REFERENCE   8  (bases 1 to 5427)
  AUTHORS   Yu,C.Y., Belt,K.T., Giles,C.M., Campbell,R.D. and Porter,R.R.
  TITLE     Structural basis of the polymorphism of human complement components
            C4A and C4B: gene size, reactivity and antigenicity
  JOURNAL   EMBO J 5 (11), 2873-2881 (1986)
   PUBMED   2431902
REFERENCE   9  (bases 1 to 5427)
  AUTHORS   Belt,K.T., Carroll,M.C. and Porter,R.R.
  TITLE     The structural basis of the multiple forms of human complement
            component C4
  JOURNAL   Cell 36 (4), 907-914 (1984)
   PUBMED   6546707
REFERENCE   10  (bases 1 to 5427)
  AUTHORS   Teisberg,P., Akesson,I., Olaisen,B., Gedde-Dahl,T. Jr. and
            Thorsby,E.
  TITLE     Genetic polymorphism of C4 in man and localisation of a structural
            C4 locus to the HLA gene complex of chromosome 6
  JOURNAL   Nature 264 (5583), 253-254 (1976)
   PUBMED   1088823
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.327879.1,
            SRR14038195.1663018.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000435363.7/ ENSP00000415941.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL645922.12.
            On Dec 4, 2019 this sequence version replaced NM_001002029.3.
            Summary: This gene encodes the basic form of complement factor 4,
            and together with the C4A gene, is part of the classical activation
            pathway. The protein is expressed as a single chain precursor which
            is proteolytically cleaved into a trimer of alpha, beta, and gamma
            chains prior to secretion. The trimer provides a surface for
            interaction between the antigen-antibody complex and other
            complement components. The alpha chain may be cleaved to release C4
            anaphylatoxin, a mediator of local inflammation. Deficiency of this
            protein is associated with systemic lupus erythematosus. This gene
            localizes to the major histocompatibility complex (MHC) class III
            region on chromosome 6. Varying haplotypes of this gene cluster
            exist, such that individuals may have 1, 2, or 3 copies of this
            gene. In addition, this gene exists as a long form and a short form
            due to the presence or absence of a 6.4 kb endogenous HERV-K
            retrovirus in intron 9. [provided by RefSeq, May 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5427
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..5427
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /note="complement C4B (Chido blood group)"
                     /db_xref="GeneID:721"
                     /db_xref="HGNC:HGNC:1324"
                     /db_xref="MIM:120820"
     misc_feature    28..30
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /note="upstream in-frame stop codon"
     CDS             52..5286
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /note="Chido form of C4; complement C4-B; complement C4B1a;
                     basic complement C4; C3 and PZP-like alpha-2-macroglobulin
                     domain-containing protein 3; complement component 4B (Chido
                     blood group)"
                     /codon_start=1
                     /product="complement C4-B preproprotein"
                     /protein_id="NP_001002029.3"
                     /db_xref="CCDS:CCDS47405.1"
                     /db_xref="GeneID:721"
                     /db_xref="HGNC:HGNC:1324"
                     /db_xref="MIM:120820"
                     /translation="MRLLWGLIWASSFFTLSLQKPRLLLFSPSVVHLGVPLSVGVQLQD
                     VPRGQVVKGSVFLRNPSRNNVPCSPKVDFTLSSERDFALLSLQVPLKDAKSCGLHQLLR
                     GPEVQLVAHSPWLKDSLSRTTNIQGINLLFSSRRGHLFLQTDQPIYNPGQRVRYRVFAL
                     DQKMRPSTDTITVMVENSHGLRVRKKEVYMPSSIFQDDFVIPDISEPGTWKISARFSDG
                     LESNSSTQFEVKKYVLPNFEVKITPGKPYILTVPGHLDEMQLDIQARYIYGKPVQGVAY
                     VRFGLLDEDGKKTFFRGLESQTKLVNGQSHISLSKAEFQDALEKLNMGITDLQGLRLYV
                     AAAIIESPGGEMEEAELTSWYFVSSPFSLDLSKTKRHLVPGAPFLLQALVREMSGSPAS
                     GIPVKVSATVSSPGSVPEVQDIQQNTDGSGQVSIPIIIPQTISELQLSVSAGSPHPAIA
                     RLTVAAPPSGGPGFLSIERPDSRPPRVGDTLNLNLRAVGSGATFSHYYYMILSRGQIVF
                     MNREPKRTLTSVSVFVDHHLAPSFYFVAFYYHGDHPVANSLRVDVQAGACEGKLELSVD
                     GAKQYRNGESVKLHLETDSLALVALGALDTALYAAGSKSHKPLNMGKVFEAMNSYDLGC
                     GPGGGDSALQVFQAAGLAFSDGDQWTLSRKRLSCPKEKTTRKKRNVNFQKAINEKLGQY
                     ASPTAKRCCQDGVTRLPMMRSCEQRAARVQQPDCREPFLSCCQFAESLRKKSRDKGQAG
                     LQRALEILQEEDLIDEDDIPVRSFFPENWLWRVETVDRFQILTLWLPDSLTTWEIHGLS
                     LSKTKGLCVATPVQLRVFREFHLHLRLPMSVRRFEQLELRPVLYNYLDKNLTVSVHVSP
                     VEGLCLAGGGGLAQQVLVPAGSARPVAFSVVPTAATAVSLKVVARGSFEFPVGDAVSKV
                     LQIEKEGAIHREELVYELNPLDHRGRTLEIPGNSDPNMIPDGDFNSYVRVTASDPLDTL
                     GSEGALSPGGVASLLRLPRGCGEQTMIYLAPTLAASRYLDKTEQWSTLPPETKDHAVDL
                     IQKGYMRIQQFRKADGSYAAWLSRGSSTWLTAFVLKVLSLAQEQVGGSPEKLQETSNWL
                     LSQQQADGSFQDLSPVIHRSMQGGLVGNDETVALTAFVTIALHHGLAVFQDEGAEPLKQ
                     RVEASISKASSFLGEKASAGLLGAHAAAITAYALTLTKAPADLRGVAHNNLMAMAQETG
                     DNLYWGSVTGSQSNAVSPTPAPRNPSDPMPQAPALWIETTAYALLHLLLHEGKAEMADQ
                     AAAWLTRQGSFQGGFRSTQDTVIALDALSAYWIASHTTEERGLNVTLSSTGRNGFKSHA
                     LQLNNRQIRGLEEELQFSLGSKINVKVGGNSKGTLKVLRTYNVLDMKNTTCQDLQIEVT
                     VKGHVEYTMEANEDYEDYEYDELPAKDDPDAPLQPVTPLQLFEGRRNRRRREAPKVVEE
                     QESRVHYTVCIWRNGKVGLSGMAIADVTLLSGFHALRADLEKLTSLSDRYVSHFETEGP
                     HVLLYFDSVPTSRECVGFEAVQEVPVGLVQPASATLYDYYNPERRCSVFYGAPSKSRLL
                     ATLCSAEVCQCAEGKCPRQRRALERGLQDEDGYRMKFACYYPRVEYGFQVKVLREDSRA
                     AFRLFETKITQVLHFTKDVKAAANQMRNFLVRASCRLRLEPGKEYLIMGLDGATYDLEG
                     HPQYLLDSNSWIEEMPSERLCRSTRQRAACAQLNDFLQEYGTQGCQV"
     sig_peptide     52..108
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     109..2076
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /product="Complement C4 beta chain. /id=PRO_0000042699"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C0L5.2)"
     misc_feature    727..729
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12754519; propagated from
                     UniProtKB/Swiss-Prot (P0C0L5.2); glycosylation site"
     mat_peptide     2089..4389
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /product="Complement C4-B alpha chain. /id=PRO_0000042701"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C0L5.2)"
     mat_peptide     2089..2319
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /product="C4a anaphylatoxin. /id=PRO_0000042702"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C0L5.2)"
     mat_peptide     2320..4389
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /product="C4b-B. /id=PRO_0000042703"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C0L5.2)"
     misc_feature    2635..2637
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P0C0L5.2); glycosylation site"
     misc_feature    2803..2805
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P0C0L4; propagated from
                     UniProtKB/Swiss-Prot (P0C0L5.2); phosphorylation site"
     mat_peptide     2920..4059
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /product="C4d-B. /id=PRO_0000042704"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C0L5.2)"
     misc_feature    4033..4035
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16740002; propagated from
                     UniProtKB/Swiss-Prot (P0C0L5.2); glycosylation site"
     misc_feature    4222..4224
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718; propagated from
                     UniProtKB/Swiss-Prot (P0C0L5.2); glycosylation site"
     misc_feature    4300..4302
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /note="Sulfotyrosine. /evidence=ECO:0000269|PubMed:3944109;
                     propagated from UniProtKB/Swiss-Prot (P0C0L5.2);
                     sulfatation site"
     misc_feature    4309..4311
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /note="Sulfotyrosine. /evidence=ECO:0000269|PubMed:3944109;
                     propagated from UniProtKB/Swiss-Prot (P0C0L5.2);
                     sulfatation site"
     misc_feature    4315..4317
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /note="Sulfotyrosine. /evidence=ECO:0000269|PubMed:3944109;
                     propagated from UniProtKB/Swiss-Prot (P0C0L5.2);
                     sulfatation site"
     mat_peptide     4411..5283
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /product="Complement C4 gamma chain. /id=PRO_0000042706"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C0L5.2)"
     regulatory      5391..5396
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /note="hexamer: ATTAAA"
     polyA_site      5412
                     /gene="C4B"
                     /gene_synonym="C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2;
                     C4F; CH; CO4; CPAMD3"
                     /note="major polyA site"
ORIGIN
        1 agaaggtagc agacagacag acggatctaa cctctcttgg atcctccagc catgaggctg
       61 ctctgggggc tgatctgggc atccagcttc ttcaccttat ctctgcagaa gcccaggttg
      121 ctcttgttct ctccttctgt ggttcatctg ggggtccccc tatcggtggg ggtgcagctc
      181 caggatgtgc cccgaggaca ggtagtgaaa ggatcagtgt tcctgagaaa cccatctcgt
      241 aataatgtcc cctgctcccc aaaggtggac ttcaccctta gctcagaaag agacttcgca
      301 ctcctcagtc tccaggtgcc cttgaaagat gcgaagagct gtggcctcca tcaactcctc
      361 agaggccctg aggtccagct ggtggcccat tcgccatggc taaaggactc tctgtccaga
      421 acgacaaaca tccagggtat caacctgctc ttctcctctc gccgggggca cctctttttg
      481 cagacggacc agcccattta caaccctggc cagcgggttc ggtaccgggt ctttgctctg
      541 gatcagaaga tgcgcccgag cactgacacc atcacagtca tggtggagaa ctctcacggc
      601 ctccgcgtgc ggaagaagga ggtgtacatg ccctcgtcca tcttccagga tgactttgtg
      661 atcccagaca tctcagagcc agggacctgg aagatctcag cccgattctc agatggcctg
      721 gaatccaaca gcagcaccca gtttgaggtg aagaaatatg tccttcccaa ctttgaggtg
      781 aagatcaccc ctggaaagcc ctacatcctg acggtgccag gccatcttga tgaaatgcag
      841 ttagacatcc aggccaggta catctatggg aagccagtgc agggggtggc atatgtgcgc
      901 tttgggctcc tagatgagga tggtaagaag actttctttc gggggctgga gagtcagacc
      961 aagctggtga atggacagag ccacatttcc ctctcaaagg cagagttcca ggacgccctg
     1021 gagaagctga atatgggcat tactgacctc caggggctgc gcctctacgt tgctgcagcc
     1081 atcattgagt ctccaggtgg ggagatggag gaggcagagc tcacatcctg gtattttgtg
     1141 tcatctccct tctccttgga tcttagcaag accaagcgac accttgtgcc tggggccccc
     1201 ttcctgctgc aggccttggt ccgtgagatg tcaggctccc cagcttctgg cattcctgtc
     1261 aaagtttctg ccacggtgtc ttctcctggg tctgttcctg aagtccagga cattcagcaa
     1321 aacacagacg ggagcggcca agtcagcatt ccaataatta tccctcagac catctcagag
     1381 ctgcagctct cagtatctgc aggctcccca catccagcga tagccaggct cactgtggca
     1441 gccccacctt caggaggccc cgggtttctg tctattgagc ggccggattc tcgacctcct
     1501 cgtgttgggg acactctgaa cctgaacttg cgagccgtgg gcagtggggc caccttttct
     1561 cattactact acatgatcct atcccgaggg cagatcgtgt tcatgaatcg agagcccaag
     1621 aggaccctga cctcggtctc ggtgtttgtg gaccatcacc tggcaccctc cttctacttt
     1681 gtggccttct actaccatgg agaccaccca gtggccaact ccctgcgagt ggatgtccag
     1741 gctggggcct gcgagggcaa gctggagctc agcgtggacg gtgccaagca gtaccggaac
     1801 ggggagtccg tgaagctcca cttagaaacc gactccctag ccctggtggc gctgggagcc
     1861 ttggacacag ctctgtatgc tgcaggcagc aagtcccaca agcccctcaa catgggcaag
     1921 gtctttgaag ctatgaacag ctatgacctc ggctgtggtc ctgggggtgg ggacagtgcc
     1981 cttcaggtgt tccaggcagc gggcctggcc ttttctgatg gagaccagtg gaccttatcc
     2041 agaaagagac taagctgtcc caaggagaag acaacccgga aaaagagaaa cgtgaacttc
     2101 caaaaggcga ttaatgagaa attgggtcag tatgcttccc cgacagccaa gcgctgctgc
     2161 caggatgggg tgacacgtct gcccatgatg cgttcctgcg agcagcgggc agcccgcgtg
     2221 cagcagccgg actgccggga gcccttcctg tcctgctgcc aatttgctga gagtctgcgc
     2281 aagaagagca gggacaaggg ccaggcgggc ctccaacgag ccctggagat cctgcaggag
     2341 gaggacctga ttgatgagga tgacattccc gtgcgcagct tcttcccaga gaactggctc
     2401 tggagagtgg aaacagtgga ccgctttcaa atattgacac tgtggctccc cgactctctg
     2461 accacgtggg agatccatgg cctgagcctg tccaaaacca aaggcctatg tgtggccacc
     2521 ccagtccagc tccgggtgtt ccgcgagttc cacctgcacc tccgcctgcc catgtctgtc
     2581 cgccgctttg agcagctgga gctgcggcct gtcctctata actacctgga taaaaacctg
     2641 actgtgagcg tccacgtgtc cccagtggag gggctgtgcc tggctggggg cggagggctg
     2701 gcccagcagg tgctggtgcc tgcgggctct gcccggcctg ttgccttctc tgtggtgccc
     2761 acggcagcca ccgctgtgtc tctgaaggtg gtggctcgag ggtccttcga attccctgtg
     2821 ggagatgcgg tgtccaaggt tctgcagatt gagaaggaag gggccatcca tagagaggag
     2881 ctggtctatg aactcaaccc cttggaccac cgaggccgga ccttggaaat acctggcaac
     2941 tctgatccca atatgatccc tgatggggac tttaacagct acgtcagggt tacagcctca
     3001 gatccattgg acactttagg ctctgagggg gccttgtcac caggaggcgt ggcctccctc
     3061 ttgaggcttc ctcgaggctg tggggagcaa accatgatct acttggctcc gacactggct
     3121 gcttcccgct acctggacaa gacagagcag tggagcacac tgcctcccga gaccaaggac
     3181 cacgccgtgg atctgatcca gaaaggctac atgcggatcc agcagtttcg gaaggcggat
     3241 ggttcctatg cggcttggtt gtcacggggc agcagcacct ggctcacagc ctttgtgttg
     3301 aaggtcctga gtttggccca ggagcaggta ggaggctcgc ctgagaaact gcaggagaca
     3361 tctaactggc ttctgtccca gcagcaggct gacggctcgt tccaggacct ctctccagtg
     3421 atacatagga gcatgcaggg gggtttggtg ggcaatgatg agactgtggc actcacagcc
     3481 tttgtgacca tcgcccttca tcatgggctg gccgtcttcc aggatgaggg tgcagagcca
     3541 ttgaagcaga gagtggaagc ctccatctca aaggcaagct catttttggg ggagaaagca
     3601 agtgctgggc tcctgggtgc ccacgcagct gccatcacgg cctatgccct gacactgacc
     3661 aaggcccctg cggacctgcg gggtgttgcc cacaacaacc tcatggcaat ggcccaggag
     3721 actggagata acctgtactg gggctcagtc actggttctc agagcaatgc cgtgtcgccc
     3781 accccggctc ctcgcaaccc atccgacccc atgccccagg ccccagccct gtggattgaa
     3841 accacagcct acgccctgct gcacctcctg cttcacgagg gcaaagcaga gatggcagac
     3901 caggctgcgg cctggctcac ccgtcagggc agcttccaag ggggattccg cagtacccaa
     3961 gacacggtga ttgccctgga tgccctgtct gcctactgga ttgcctccca caccactgag
     4021 gagaggggtc tcaatgtgac tctcagctcc acaggccgga atgggttcaa gtcccacgcg
     4081 ctgcagctga acaaccgcca gattcgcggc ctggaggagg agctgcagtt ttccttgggc
     4141 agcaagatca atgtgaaggt gggaggaaac agcaaaggaa ccctgaaggt ccttcgtacc
     4201 tacaatgtcc tggacatgaa gaacacgacc tgccaggacc tacagataga agtgacagtc
     4261 aaaggccacg tcgagtacac gatggaagca aacgaggact atgaggacta tgagtacgat
     4321 gagcttccag ccaaggatga cccagatgcc cctctgcagc ccgtgacacc cctgcagctg
     4381 tttgagggtc ggaggaaccg ccgcaggagg gaggcgccca aggtggtgga ggagcaggag
     4441 tccagggtgc actacaccgt gtgcatctgg cggaacggca aggtggggct gtctggcatg
     4501 gccatcgcgg acgtcaccct cctgagtgga ttccacgccc tgcgtgctga cctggagaag
     4561 ctgacctccc tctctgaccg ttacgtgagt cactttgaga ccgaggggcc ccacgtcctg
     4621 ctgtattttg actcggtccc cacctcccgg gagtgcgtgg gctttgaggc tgtgcaggaa
     4681 gtgccggtgg ggctggtgca gccggccagc gcaaccctgt acgactacta caaccccgag
     4741 cgcagatgtt ctgtgtttta cggggcacca agtaagagca gactcttggc caccttgtgt
     4801 tctgctgaag tctgccagtg tgctgagggg aagtgccctc gccagcgtcg cgccctggag
     4861 cggggtctgc aggacgagga tggctacagg atgaagtttg cctgctacta cccccgtgtg
     4921 gagtacggct tccaggttaa ggttctccga gaagacagca gagctgcttt ccgcctcttt
     4981 gagaccaaga tcacccaagt cctgcacttc accaaggatg tcaaggccgc tgctaatcag
     5041 atgcgcaact tcctggttcg agcctcctgc cgccttcgct tggaacctgg gaaagaatat
     5101 ttgatcatgg gtctggatgg ggccacctat gacctcgagg gacaccccca gtacctgctg
     5161 gactcgaata gctggatcga ggagatgccc tctgaacgcc tgtgccggag cacccgccag
     5221 cgggcagcct gtgcccagct caacgacttc ctccaggagt atggcactca ggggtgccag
     5281 gtgtgagggc tgccctccca cctccgctgg gaggaacctg aacctgggaa ccatgaagct
     5341 ggaagcactg ctgtgtccgc tttcatgaac acagcctggg accagggcat attaaaggct
     5401 tttggcagca aagtgtcagt gttggca
//
LOCUS       NM_001002030            2339 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens ethylmalonyl-CoA decarboxylase 1 (ECHDC1), transcript
            variant 1, mRNA.
ACCESSION   NM_001002030
VERSION     NM_001002030.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2339)
  AUTHORS   Fogh S, Dipace G, Bie A, Veiga-da-Cunha M, Hansen J, Kjeldsen M,
            Mosegaard S, Ribes A, Gregersen N, Aagaard L, Van Schaftingen E and
            Olsen RKJ.
  TITLE     Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a
            novel player in ethylmalonic aciduria?
  JOURNAL   J Inherit Metab Dis 44 (5), 1215-1225 (2021)
   PUBMED   33973257
  REMARK    GeneRIF: Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1)
            gene: a novel player in ethylmalonic aciduria?
REFERENCE   2  (bases 1 to 2339)
  AUTHORS   Jaiswal A, Gautam P, Pietila EA, Timonen S, Nordstrom N, Akimov Y,
            Sipari N, Tanoli Z, Fleischer T, Lehti K, Wennerberg K and
            Aittokallio T.
  TITLE     Multi-modal meta-analysis of cancer cell line omics profiles
            identifies ECHDC1 as a novel breast tumor suppressor
  JOURNAL   Mol Syst Biol 17 (3), e9526 (2021)
   PUBMED   33750001
  REMARK    GeneRIF: Multi-modal meta-analysis of cancer cell line omics
            profiles identifies ECHDC1 as a novel breast tumor suppressor.
REFERENCE   3  (bases 1 to 2339)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2339)
  AUTHORS   Linster CL, Noel G, Stroobant V, Vertommen D, Vincent MF, Bommer GT,
            Veiga-da-Cunha M and Van Schaftingen E.
  TITLE     Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite
            proofreading
  JOURNAL   J Biol Chem 286 (50), 42992-43003 (2011)
   PUBMED   22016388
REFERENCE   5  (bases 1 to 2339)
  AUTHORS   Enciso-Mora V, Hosking FJ and Houlston RS.
  TITLE     Risk of breast and prostate cancer is not associated with increased
            homozygosity in outbred populations
  JOURNAL   Eur J Hum Genet 18 (8), 909-914 (2010)
   PUBMED   20407466
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   6  (bases 1 to 2339)
  AUTHORS   Zheng W, Cai Q, Signorello LB, Long J, Hargreaves MK, Deming SL, Li
            G, Li C, Cui Y and Blot WJ.
  TITLE     Evaluation of 11 breast cancer susceptibility loci in
            African-American women
  JOURNAL   Cancer Epidemiol Biomarkers Prev 18 (10), 2761-2764 (2009)
   PUBMED   19789366
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   7  (bases 1 to 2339)
  AUTHORS   Menachem TD, Laitman Y, Kaufman B and Friedman E.
  TITLE     The RNF146 and ECHDC1 genes as candidates for inherited breast and
            ovarian cancer in Jewish Ashkenazi women
  JOURNAL   Fam Cancer 8 (4), 399-402 (2009)
   PUBMED   19517271
  REMARK    GeneRIF: Mutations in the coding regions of the RNF146 and ECHDC1
            genes do not contribute to the burden of inherited predisposition of
            breast cancer in Ashkenazi high risk women. GeneRIF: Observational
            study of gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 2339)
  AUTHORS   Gold B, Kirchhoff T, Stefanov S, Lautenberger J, Viale A, Garber J,
            Friedman E, Narod S, Olshen AB, Gregersen P, Kosarin K, Olsh A,
            Bergeron J, Ellis NA, Klein RJ, Clark AG, Norton L, Dean M, Boyd J
            and Offit K.
  TITLE     Genome-wide association study provides evidence for a breast cancer
            risk locus at 6q22.33
  JOURNAL   Proc Natl Acad Sci U S A 105 (11), 4340-4345 (2008)
   PUBMED   18326623
  REMARK    GeneRIF: Genome-wide association study of gene-disease association.
            (HuGE Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AL834469.1, SRR3476690.70508.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2163623
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000454859.8/ ENSP00000401751.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC297239.1 and AL834469.1.
            On Nov 23, 2018 this sequence version replaced NM_001002030.1.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform 1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2339
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.33"
     gene            1..2339
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /note="ethylmalonyl-CoA decarboxylase 1"
                     /db_xref="GeneID:55862"
                     /db_xref="HGNC:HGNC:21489"
                     /db_xref="MIM:612136"
     misc_feature    85..87
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /note="upstream in-frame stop codon"
     CDS             277..1182
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /EC_number="4.1.1.94"
                     /note="isoform 1 is encoded by transcript variant 1; enoyl
                     Coenzyme A hydratase domain containing 1; enoyl-CoA
                     hydratase domain-containing protein 1; methylmalonyl-CoA
                     decarboxylase; epididymis secretory protein Li 76; enoyl
                     CoA hydratase domain containing 1"
                     /codon_start=1
                     /product="ethylmalonyl-CoA decarboxylase isoform 1"
                     /protein_id="NP_001002030.1"
                     /db_xref="CCDS:CCDS43504.1"
                     /db_xref="GeneID:55862"
                     /db_xref="HGNC:HGNC:21489"
                     /db_xref="MIM:612136"
                     /translation="MAKSLLKTASLSGRTKLLHQTGLSLYSTSHGFYEEEVKKTLQQFP
                     GGSIDLQKEDNGIGILTLNNPSRMNAFSGVMMLQLLEKVIELENWTEGKGLIVRGAKNT
                     FSSGSDLNAVKSLGTPEDGMAVCMFMQNTLTRFMRLPLISVALVQGWALGGGAEFTTAC
                     DFRLMTPESKIRFVHKEMGIIPSWGGTTRLVEIIGSRQALKVLSGALKLDSKNALNIGM
                     VEEVLQSSDETKSLEEAQEWLKQFIQGPPEVIRALKKSVCSGRELYLEEALQNERDLLG
                     TVWGGPANLEAIAKKGKFNK"
     regulatory      1250..1255
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /note="hexamer: ATTAAA"
     polyA_site      1272
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /note="major polyA site"
     regulatory      2313..2318
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /note="hexamer: AATAAA"
     polyA_site      2339
                     /gene="ECHDC1"
                     /gene_synonym="dJ351K20.2; HEL-S-76; MMCD"
                     /note="major polyA site"
ORIGIN
        1 gtgacacgag ggagcgcgaa gcggagggcg cctcgcggca ggagcgggat ttccggggtc
       61 acgggaaccg gcaggggaac gggataaagt tcccggagaa aggaaaggag agcgtgggat
      121 agtaaaagag aagacgcgga gaagaggaga ggacctacaa gaacggagga caggggcgca
      181 cgatggtccc ggggggagcg gaaacaaagg cacgcaaaac ggaaaagcgt gtgtagggga
      241 gcggaaaagg aagtcaccac cgtggcctgc gacgaaatgg cgaaaagtct tttgaagaca
      301 gcctctctgt ctggaaggac aaaattgcta catcaaacag gattgtcact ttatagtaca
      361 tcccatggat tttatgagga agaagtgaaa aaaacacttc agcagtttcc tggtggatcc
      421 attgaccttc agaaggaaga caatggcatt ggcattctta ctctgaacaa tccaagtaga
      481 atgaatgcct tttcaggtgt tatgatgcta caacttctgg aaaaagtaat tgaattggaa
      541 aattggacag aggggaaagg cctcattgtc cgtggggcaa aaaatacttt ctcttcagga
      601 tctgatctga atgctgtgaa atcactagga actccagagg atggaatggc cgtatgcatg
      661 ttcatgcaaa acaccttaac aagatttatg agacttcctt taataagtgt tgcgctggtt
      721 caaggttggg cattgggtgg aggagcagaa tttactacag catgtgattt caggttaatg
      781 actccagaga gtaagatcag attcgtccac aaagagatgg gcataatacc aagctggggt
      841 ggcaccaccc ggctagttga aataatcgga agtagacaag ctctcaaagt gttgagtggg
      901 gcccttaaac tggattcaaa aaatgctcta aacataggaa tggttgaaga ggtcttgcag
      961 tcttcagatg aaactaaatc tctagaagag gcacaagaat ggctaaagca attcatccaa
     1021 gggccaccgg aagtaattag agctttgaaa aaatctgttt gttcaggcag agagctatat
     1081 ttggaggaag cattacagaa cgaaagagat cttttaggaa cagtttgggg tgggcctgca
     1141 aatttagagg ctattgctaa gaaaggaaaa tttaataaat aattggtttt tcgtgtggat
     1201 gtactccaag taaagctcca gtgactaata tgtataaatg ttaaatgata ttaaatatga
     1261 acatcagaat tactttgaag gctactatta atatgcagac ttacttttaa tcatttgaat
     1321 atctgaactc atttacctca tttcttgcca attactcact tgggtattta ctgcgtaatc
     1381 tggaacattt agctaaaata tacacttttg gcttaaaaat tattgctgtc aattccaata
     1441 ataattctta gcttataacc aaagagcagt gtttaaaagg agagcttcta tacaaaacct
     1501 attcctggcg ttacttttca tacaattttt gttctgtttt acctggaaat aatttaccaa
     1561 aataactgag tgttgctgct aaagaacaaa agtggggagg tatcagggaa caagaaaaca
     1621 agaaagggta tgatcaatca ttttcttctg ctccaaacag ctggagtaaa attcatggga
     1681 aatggccctt catttaaaaa aagatgtacc tcactaccca ctacaaattt ggaactttgt
     1741 tcttttcaat aattagtttt ctattgtaaa ttacctacta aacagtggta gccatgacat
     1801 ggaaagtcaa ctgattctac aattggacat tcatttgtgt gccctggaat ttccaactag
     1861 taataaacaa ctactgttga tgtagtttta aaccacttga agggactcat gaagcatcct
     1921 gcaacataaa tttgcatttt tacatcagat ttcttttttt tcctgaaaaa caactaacct
     1981 tctaacaact atctttcaaa agtaaatgta ataaaaatgc acaacataaa atgtttatga
     2041 tcccagcaat acacttttta aaaaatgtga aagtcaaaga attaagttct agttctgact
     2101 catcacaaga ggtcaaaagt atttgctact gtaacattca attcacattt gagaatcatg
     2161 gtaaaaataa cttgcatttg ccttaccatc atgatcctac tgttgagtta ggaaaatatg
     2221 gttagacaga ctcacattac tttttttcag aggtaaactc tagattactg tgtcaaccca
     2281 atactatttg gccatagatg taaaaactac caaataaaag tggattttgt ggtctacaa
//
LOCUS       NM_001002034            2335 bp    mRNA    linear   PRI 24-MAR-2023
DEFINITION  Homo sapiens PH domain containing endocytic trafficking adaptor 2
            (PHETA2), mRNA.
ACCESSION   NM_001002034
VERSION     NM_001002034.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2335)
  AUTHORS   Ates KM, Wang T, Moreland T, Veeranan-Karmegam R, Ma M, Jeter C,
            Anand P, Wenzel W, Kim HG, Wolfe LA, Stephen J, Adams DR, Markello
            T, Tifft CJ, Settlage R, Gahl WA, Gonsalvez GB, Malicdan MC,
            Flanagan-Steet H and Pan YA.
  TITLE     Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal
            and craniofacial development
  JOURNAL   Dis Model Mech 13 (5) (2020)
   PUBMED   32152089
  REMARK    GeneRIF: Deficiency in the endocytic adaptor proteins PHETA1/2
            impairs renal and craniofacial development. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2335)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2335)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 2335)
  AUTHORS   Yachie N, Petsalaki E, Mellor JC, Weile J, Jacob Y, Verby M, Ozturk
            SB, Li S, Cote AG, Mosca R, Knapp JJ, Ko M, Yu A, Gebbia M, Sahni N,
            Yi S, Tyagi T, Sheykhkarimli D, Roth JF, Wong C, Musa L, Snider J,
            Liu YC, Yu H, Braun P, Stagljar I, Hao T, Calderwood MA, Pelletier
            L, Aloy P, Hill DE, Vidal M and Roth FP.
  TITLE     Pooled-matrix protein interaction screens using Barcode Fusion
            Genetics
  JOURNAL   Mol Syst Biol 12 (4), 863 (2016)
   PUBMED   27107012
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2335)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   6  (bases 1 to 2335)
  AUTHORS   Noakes CJ, Lee G and Lowe M.
  TITLE     The PH domain proteins IPIP27A and B link OCRL1 to receptor
            recycling in the endocytic pathway
  JOURNAL   Mol Biol Cell 22 (5), 606-623 (2011)
   PUBMED   21233288
  REMARK    GeneRIF: Two novel OCRL1-binding proteins, termed inositol
            polyphosphate phosphatase interacting protein of 27 kDa (IPIP27)A
            and B (also known as Ses1 and 2), that also bind the related
            5-phosphatase Inpp5b, were identified.
REFERENCE   7  (bases 1 to 2335)
  AUTHORS   Swan LE, Tomasini L, Pirruccello M, Lunardi J and De Camilli P.
  TITLE     Two closely related endocytic proteins that share a common
            OCRL-binding motif with APPL1
  JOURNAL   Proc Natl Acad Sci U S A 107 (8), 3511-3516 (2010)
   PUBMED   20133602
  REMARK    GeneRIF: Two closely related endocytic proteins, Ses1 and Ses2,
            which interact with OCRL, were identified. The interaction is
            mediated by a short amino acid motif similar to that used by the
            rab-5 effector APPL1.
REFERENCE   8  (bases 1 to 2335)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   9  (bases 1 to 2335)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP,
            Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird
            CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien
            KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX648402.1, SRR1660807.30377.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000321753.8/ ENSP00000312753.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Z99716.4, BX648402.1 and Z82192.1.
            On Nov 22, 2018 this sequence version replaced NM_001002034.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2335
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..2335
                     /gene="PHETA2"
                     /gene_synonym="FAM109B; IPIP27B; Ses2"
                     /note="PH domain containing endocytic trafficking adaptor
                     2"
                     /db_xref="GeneID:150368"
                     /db_xref="HGNC:HGNC:27161"
                     /db_xref="MIM:614240"
     CDS             191..970
                     /gene="PHETA2"
                     /gene_synonym="FAM109B; IPIP27B; Ses2"
                     /note="27 kDa inositol polyphosphate phosphatase
                     interacting protein B; inositol polyphosphate
                     phosphatase-interacting protein B; family with sequence
                     similarity 109 member B"
                     /codon_start=1
                     /product="sesquipedalian-2"
                     /protein_id="NP_001002034.2"
                     /db_xref="CCDS:CCDS33655.1"
                     /db_xref="GeneID:150368"
                     /db_xref="HGNC:HGNC:27161"
                     /db_xref="MIM:614240"
                     /translation="MKLNERSVAHYALSDSPADHMGFLRTWGGPGTPPTPSGTGRRCWF
                     VLKGNLLFSFESREGRAPLSLVVLEGCTVELAEAPVPEEFAFAICFDAPGVRPHLLAAE
                     GPAAQEAWVKVLSRASFGYMRLVVRELESQLQDARQSLALQRRSSWKSVASRCKPQAPN
                     HRAAGLENGHCLSKDSSPVGLVEEAGSRSAGWGLAEWELQGPASLLLGKGQSPVSPETS
                     CFSTLHDWYGQEIVELRQCWQKRAQGSHSKCEEQDRP"
     misc_feature    857..895
                     /gene="PHETA2"
                     /gene_synonym="FAM109B; IPIP27B; Ses2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ICB4.1);
                     Region: F&H"
     regulatory      2315..2320
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHETA2"
                     /gene_synonym="FAM109B; IPIP27B; Ses2"
                     /note="hexamer: AGTAAA"
     polyA_site      2335
                     /gene="PHETA2"
                     /gene_synonym="FAM109B; IPIP27B; Ses2"
                     /note="major polyA site"
ORIGIN
        1 cccggctccc gcggccacgt tgcagcccag gcggaggcgc gggatctcga gctgggatcg
       61 ccctcttggg cttcggtgcg atcggcggcg ggaggttccc tgggaaccag gtggtcgaag
      121 ggctgagctg tgtggccaga caagaggtcc ctgccctccc ccagtgagcc ctgctgttcc
      181 cgtgggagcc atgaagctga acgagaggag tgtagcccac tatgcactca gcgactcccc
      241 agcggaccac atgggcttcc tgcgcacctg ggggggccca gggaccccac cgacccccag
      301 tggcactggc cgaagatgct ggtttgtcct caagggcaac ctgctattct cctttgagag
      361 tcgcgagggc cgggccccac tgagcctggt ggtgctggaa ggctgcacag tggaactggc
      421 cgaggctccc gtgcccgagg agtttgcctt tgccatctgc tttgatgccc ctggagtgcg
      481 cccacacctg ctggccgcag aagggccggc ggcccaggag gcctgggtga aggtgctgtc
      541 ccgggcaagc tttggctaca tgcgcctggt ggtacgcgag ttggagagcc agttgcagga
      601 cgcacgccag agcctggctt tgcaacgccg ctcatcctgg aagtctgttg ccagccgctg
      661 taagccccag gctcctaacc accgagctgc gggcctggag aatggccact gcctctccaa
      721 ggacagcagc cctgtgggct tggttgaaga agcgggcagc aggtctgcag ggtgggggtt
      781 ggctgagtgg gagctgcagg gccctgccag cctcctccta ggcaaggggc agagccctgt
      841 gtcccctgag acctcctgct tctctaccct gcatgactgg tatggccagg agatcgtgga
      901 gctgcggcag tgttggcaga agagggccca ggggagccac tcaaaatgtg aggaacagga
      961 taggccctaa gtctgggccc tttgagtcag gaaaccaggg ccagttcttt ttcaggagtt
     1021 aaatgtttac ccatttccaa ggttgcgttt tgggagggga catgggttct ctccttcctg
     1081 ctatttaggc attctccagg ttcgagatcc acccgtgtgt ctggaaggga ctgcgggacc
     1141 attccttcca tcctctttat ttcctgaggt ccagagaagg aaggagactt agcagccaca
     1201 gagcaagacc ccaatctcct gactgcactg gcctgactgc cccctcccag gggatgttaa
     1261 tgaaatgaag gaagtgggga atgtcacccg agactgtcac aggcttgcca tacctttggc
     1321 ctacacaccg ggctctagag ccataatttc caacctgggg agtctcctgt gcacttaaat
     1381 ccgaggtagg ctgcagtatc ggcttgaagc tctgacactg tcagagaaag tggatttatt
     1441 gtgtcatagg agtttctggg acccagctct tcctgagagg ggtgggaaga ttggggatgg
     1501 gatcctcact cagcagtctg ggtagggccc tttgaggcag agggtcttcg gccagtgaag
     1561 agagatttat tctgctcaga gtgctggggt cccatccttt ctccctggct gccctgttaa
     1621 cagatggtgc tggaccttgc cccggaaggg gcttgtagct tttttacgtc aacgaaatgc
     1681 cctcctgtac tctgtcttca gcagccaact cctggagctg ccaagtgagg ggttaaagaa
     1741 gaggtgggga ggcagtgtgg ctccctggga aaagtctgtt gctttggttc tcagtcctgg
     1801 gtattctagg agcttggaca cgggattgcg tttcctgtgc taaaattctc tctcctggct
     1861 gggctccggt aaactgaagc tgctcgagaa atcacctggg aactctcata gccgtttgtc
     1921 acccagggtg tacttgccag gacctctcct tgctactctt cccaaagtcg ggaggcaaag
     1981 cggctgggtc accagagcct gaccatactg acgctccagg gggaagacgc agaggccggg
     2041 aagagacacc ccctcccaaa cacataaaac ttgccccttc ctagcctcgg ctcccctcac
     2101 tggggccttg ggcaggaccg acccgcatcc aactaggcct aaggggtagg ctctgagcct
     2161 cttaccccta agaggcggag atgcgcccaa ggcgggcgcc cggcctgttc cccagccctg
     2221 cctggaagcc ccgcagccac tgcattttgt ttaaacacag atagcacggg cctttctctt
     2281 attgctacag tgttttgtac acggttaaaa cactagtaaa gctttttcgt tatta
//
LOCUS       NM_001002035             370 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens defensin beta 108B (DEFB108B), mRNA.
ACCESSION   NM_001002035
VERSION     NM_001002035.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 370)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 370)
  AUTHORS   Milanese M, Segat L, Arraes LC, Garzino-Demo A and Crovella S.
  TITLE     Copy number variation of defensin genes and HIV infection in
            Brazilian children
  JOURNAL   J Acquir Immune Defic Syndr 50 (3), 331-333 (2009)
   PUBMED   19194307
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 370)
  AUTHORS   Kao CY, Chen Y, Zhao YH and Wu R.
  TITLE     ORFeome-based search of airway epithelial cell-specific novel human
            [beta]-defensin genes
  JOURNAL   Am J Respir Cell Mol Biol 29 (1), 71-80 (2003)
   PUBMED   12600824
  REMARK    GeneRIF: The encoded protein is thought to have antimicrobial
            activity.
REFERENCE   4  (bases 1 to 370)
  AUTHORS   Semple CA, Rolfe M and Dorin JR.
  TITLE     Duplication and selection in the evolution of primate beta-defensin
            genes
  JOURNAL   Genome Biol 4 (5), R31 (2003)
   PUBMED   12734011
REFERENCE   5  (bases 1 to 370)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination        :: AF529416.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000328698.2/ ENSP00000333234.1
            Protein has antimicrobial activity :: PMID: 12600824
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP002495.3.
            On Sep 2, 2019 this sequence version replaced NM_001002035.1.
            Summary: Defensins form a family of antimicrobial and cytotoxic
            peptides made by neutrophils. Defensins are short, processed
            peptide molecules that are classified by structure into three
            groups: alpha-defensins, beta-defensins and theta-defensins. All
            beta-defensin genes are densely clustered in four to five syntenic
            chromosomal regions. A pseudogene of this gene has been found on
            chromosome 8. [provided by RefSeq, Oct 2014].
FEATURES             Location/Qualifiers
     source          1..370
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..370
                     /gene="DEFB108B"
                     /gene_synonym="DEFB-8; hBD-8"
                     /note="defensin beta 108B"
                     /db_xref="GeneID:245911"
                     /db_xref="HGNC:HGNC:29966"
     CDS             1..222
                     /gene="DEFB108B"
                     /gene_synonym="DEFB-8; hBD-8"
                     /note="defensin, beta 8; beta-defensin 8; beta-defensin
                     108B"
                     /codon_start=1
                     /product="beta-defensin 108B precursor"
                     /protein_id="NP_001002035.1"
                     /db_xref="CCDS:CCDS31631.1"
                     /db_xref="GeneID:245911"
                     /db_xref="HGNC:HGNC:29966"
                     /translation="MRIAVLLFAIFFFMSQVLPARGKFKEICERPNGSCRDFCLETEIH
                     VGRCLNSQPCCLPLGHQPRIESTTPKKD"
     sig_peptide     1..57
                     /gene="DEFB108B"
                     /gene_synonym="DEFB-8; hBD-8"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
ORIGIN
        1 atgaggattg ctgtcctcct cttcgccatt ttcttcttta tgagccaagt tctaccagcc
       61 aggggcaaat tcaaggagat ctgtgaacgt ccaaatggct cctgtcggga cttttgcctt
      121 gaaacagaaa tccatgttgg gagatgttta aatagccaac cctgctgcct gcctctgggg
      181 catcaaccaa gaattgagag cactacaccc aaaaaggact gaagcctgtt gttttctgga
      241 ggttttatgt tctctttttt ctctctccct ctctctgtct ccctgtctcc ctttccctct
      301 ctccattttt ctcacaggga tttttattga atcctcaaaa aagaataaac caaaaccaac
      361 cagcacaaaa
//
LOCUS       NM_001002036            2394 bp    mRNA    linear   PRI 13-APR-2023
DEFINITION  Homo sapiens astacin like metalloendopeptidase (ASTL), mRNA.
ACCESSION   NM_001002036
VERSION     NM_001002036.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2394)
  AUTHORS   Maddirevula S, Coskun S, Al-Qahtani M, Aboyousef O, Alhassan S,
            Aldeery M and Alkuraya FS.
  TITLE     ASTL is mutated in female infertility
  JOURNAL   Hum Genet 141 (1), 49-54 (2022)
   PUBMED   34704130
  REMARK    GeneRIF: ASTL is mutated in female infertility.
REFERENCE   2  (bases 1 to 2394)
  AUTHORS   Yang HX, Yang Y, Li XD, Miao XM, Yang C, Zhi DF, Su H, Yang G, Gao
            J, Du CG, Li HJ, Song YL and Cao GF.
  TITLE     The detection of SAS1B in serum provides clues for early diagnosis
            of thyroid cancer
  JOURNAL   Eur Rev Med Pharmacol Sci 25 (3), 1410-1424 (2021)
   PUBMED   33629311
  REMARK    GeneRIF: The detection of SAS1B in serum provides clues for early
            diagnosis of thyroid cancer.
REFERENCE   3  (bases 1 to 2394)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2394)
  AUTHORS   Pires ES, D'Souza RS, Needham MA, Herr AK, Jazaeri AA, Li H, Stoler
            MH, Anderson-Knapp KL, Thomas T, Mandal A, Gougeon A, Flickinger CJ,
            Bruns DE, Pollok BA and Herr JC.
  TITLE     Membrane associated cancer-oocyte neoantigen SAS1B/ovastacin is a
            candidate immunotherapeutic target for uterine tumors
  JOURNAL   Oncotarget 6 (30), 30194-30211 (2015)
   PUBMED   26327203
  REMARK    GeneRIF: The SAS1B metalloproteinase is proposed as a prototype
            cancer-oocyte tumor surface neoantigen for development of targeted
            immunotherapeutics with limited on-target/off tumor effects
            predicted to be restricted to the population of growing oocytes.
            Erratum:[Oncotarget. 2017 Feb 28;8(9):16099. PMID: 28403580]
REFERENCE   5  (bases 1 to 2394)
  AUTHORS   Pires ES, Hlavin C, Macnamara E, Ishola-Gbenla K, Doerwaldt C,
            Chamberlain C, Klotz K, Herr AK, Khole A, Chertihin O, Curnow E,
            Feldman SH, Mandal A, Shetty J, Flickinger C and Herr JC.
  TITLE     SAS1B protein [ovastacin] shows temporal and spatial restriction to
            oocytes in several eutherian orders and initiates translation at the
            primary to secondary follicle transition
  JOURNAL   Dev Dyn 242 (12), 1405-1426 (2013)
   PUBMED   24038607
  REMARK    GeneRIF: SAS1B protein [ovastacin] shows temporal and spatial
            restriction to oocytes in several eutherian orders and initiates
            translation at the primary to secondary follicle transition.
REFERENCE   6  (bases 1 to 2394)
  AUTHORS   Burkart AD, Xiong B, Baibakov B, Jimenez-Movilla M and Dean J.
  TITLE     Ovastacin, a cortical granule protease, cleaves ZP2 in the zona
            pellucida to prevent polyspermy
  JOURNAL   J Cell Biol 197 (1), 37-44 (2012)
   PUBMED   22472438
REFERENCE   7  (bases 1 to 2394)
  AUTHORS   Sachdev M, Mandal A, Mulders S, Digilio LC, Panneerdoss S,
            Suryavathi V, Pires E, Klotz KL, Hermens L, Herrero MB, Flickinger
            CJ, van Duin M and Herr JC.
  TITLE     Oocyte specific oolemmal SAS1B involved in sperm binding through
            intra-acrosomal SLLP1 during fertilization
  JOURNAL   Dev Biol 363 (1), 40-51 (2012)
   PUBMED   22206759
REFERENCE   8  (bases 1 to 2394)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction Assessment
            with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   9  (bases 1 to 2394)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC107126.1, AJ537600.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN02400289
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000342380.3/ ENSP00000343674.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012307.8.
            On Sep 4, 2020 this sequence version replaced NM_001002036.3.
FEATURES             Location/Qualifiers
     source          1..2394
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..2394
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /note="astacin like metalloendopeptidase"
                     /db_xref="GeneID:431705"
                     /db_xref="HGNC:HGNC:31704"
                     /db_xref="MIM:608860"
     CDS             67..1362
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /EC_number="3.4.24.21"
                     /note="astacin-like metalloendopeptidase (M12 family);
                     ovastacin; oocyte astacin; astacin-like
                     metallo-endopeptidase (M12 family); sperm acrosomal SLLP1
                     binding; ZP2-proteinase"
                     /codon_start=1
                     /product="astacin-like metalloendopeptidase precursor"
                     /protein_id="NP_001002036.3"
                     /db_xref="CCDS:CCDS33249.1"
                     /db_xref="GeneID:431705"
                     /db_xref="HGNC:HGNC:31704"
                     /db_xref="MIM:608860"
                     /translation="MEGVGGLWPWVLGLLSLPGVILGAPLASSCAGACGTSFPDGLTPE
                     GTQASGDKDIPAINQGLILEETPESSFLIEGDIIRPSPFRLLSATSNKWPMGGSGVVEV
                     PFLLSSKYDEPSRQVILEALAEFERSTCIRFVTYQDQRDFISIIPMYGCFSSVGRSGGM
                     QVVSLAPTCLQKGRGIVLHELMHVLGFWHEHTRADRDRYIRVNWNEILPGFEINFIKSQ
                     SSNMLTPYDYSSVMHYGRLAFSRRGLPTITPLWAPSVHIGQRWNLSASDITRVLKLYGC
                     SPSGPRPRGRGSHAHSTGRSPAPASLSLQRLLEALSAESRSPDPSGSSAGGQPVPAGPG
                     ESPHGWESPALKKLSAEASARQPQTLASSPRSRPGAGAPGVAQEQSWLAGVSTKPTVPS
                     SEAGIQPVPVQGSPALPGGCVPRNHFKGMSED"
     sig_peptide     67..135
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    913..978
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6HA08.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1015..1359
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6HA08.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2370..2375
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /note="hexamer: AATAAA"
     polyA_site      2394
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /note="major polyA site"
ORIGIN
        1 gcaattaggt tactgtgtct tgctggggct tggtcttgtt tgctgaaggg gcagcagggc
       61 tctaccatgg agggtgtagg gggtctctgg ccttgggtgc tgggtctgct ctccttgcca
      121 ggtgtgatcc taggagcgcc cctggcctcc agctgcgcag gagcctgtgg taccagcttc
      181 ccagatggcc tcacccctga gggaacccag gcctccgggg acaaggacat tcctgcaatt
      241 aaccaagggc tcatcctgga agaaacccca gagagcagct tcctcatcga gggggacatc
      301 atccggccga gtcccttccg actgctgtca gcaaccagca acaaatggcc catgggtggt
      361 agtggtgtcg tggaggtccc cttcctgctc tccagcaagt acgatgagcc cagccgccag
      421 gtcatcctgg aggctcttgc ggagtttgaa cgttccacgt gcatcaggtt tgtcacctat
      481 caggaccaga gagacttcat ttccatcatc cccatgtatg ggtgcttctc gagtgtgggg
      541 cgcagtggag ggatgcaggt ggtctccctg gcgcccacgt gtctccagaa gggccggggc
      601 attgtccttc atgagctcat gcatgtgctg ggcttctggc acgagcacac gcgggccgac
      661 cgggaccgct atatccgtgt caactggaac gagatcctgc caggctttga aatcaacttc
      721 atcaagtctc agagcagcaa catgctgacg ccctatgact actcctctgt gatgcactat
      781 gggaggctcg ccttcagccg gcgtgggctg cccaccatca caccactttg ggcccccagt
      841 gtccacatcg gccagcgatg gaacctgagt gcctcggaca tcacccgggt cctcaaactc
      901 tacggctgca gcccaagtgg ccccaggccc cgtgggagag ggtcccatgc ccacagcact
      961 ggtaggagcc ccgctccggc ctccctatct ctgcagcggc ttttggaggc actgtcggcg
     1021 gaatccagga gccccgaccc cagtggttcc agtgcgggag gccagcccgt tcctgcaggg
     1081 cctggggaga gcccacatgg gtgggagtcc cctgccctga aaaagctcag tgcagaggcc
     1141 tcggcaaggc agcctcagac cctagcttcc tccccaagat caaggcctgg agcaggtgcc
     1201 cccggtgttg ctcaggagca gtcctggctg gccggagtgt ccaccaagcc cacagtccca
     1261 tcttcagaag caggaatcca gccagtccct gtccagggaa gcccagctct gccagggggc
     1321 tgtgtaccta gaaatcattt caaggggatg tccgaagatt aagcctgtgg cttctgtccc
     1381 caagtaggga gggcatcctc tgcccagtgg agctgggtcg tctacctctt ggctcctttg
     1441 ggccacacca ctgtcttcca gccccaacct accaccccat ctcagagggc caggactctt
     1501 cccctgtctc tcttcactgt gttcccctaa gggctcctag ggccaggggt tcttctagct
     1561 ctgccacagg ggaaggcagg cctggctgtg cctgctcttg acttttgccc agccctggtg
     1621 gatgctggga atgggaggtg acattctcca gggacaggtc ctggaagggg tggggaagag
     1681 gtaggttcca gccccgcaga accctggaat ccctcctgtg cctgaggccc tgccccccag
     1741 catggactaa tggtgtccct acctctccct cagggcagcc ctgtggctgg gaccctggga
     1801 acagcctccc atcccaccca acatgcccaa gtgtggggga atgttctaca gcagtgtagc
     1861 ctccagccct tctctccagg aggctttgag agcccaactt actcccctgc agagcaggaa
     1921 ggtggtaggt caagtgtggc caccattggg gagacgagaa agaagtgggg ccccaccaga
     1981 ttgcacaatg ggaacctcag ctggcccctg aacagaggac tcagttgtct ccaccctaca
     2041 ccgctattcc ctggagctca gccaggcgca gccttggaag gagaaagggc tggggttacc
     2101 tggcttgtcc tcctccagga aagccccctt cctcctctgc cccagctccc agcctggcct
     2161 cctccaggca ggccctactc ctctgcccca gctccggctt tccccatgag gtttgtccca
     2221 ggcatgaaga aagcatccag ggtgccaatg agtgggccta ggccagaggc ccctcagtcc
     2281 ccaagggtac tgttttggtg gcctttcaga gggtcaagga agccctgctt ggggtagaag
     2341 gggcaggagc cccacatgtt gggggaggaa ataaagtgga gtgtgctgtg ctga
//
LOCUS       NM_001002248             638 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens anaphase promoting complex subunit 11 (ANAPC11),
            transcript variant 6, mRNA.
ACCESSION   NM_001002248
VERSION     NM_001002248.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 638)
  AUTHORS   Yan D, He Q, Pei L, Yang M, Huang L, Kong J, He W, Liu H, Xu S, Qin
            H, Lin T and Huang J.
  TITLE     The APC/C E3 ligase subunit ANAPC11 mediates FOXO3 protein
            degradation to promote cell proliferation and lymph node metastasis
            in urothelial bladder cancer
  JOURNAL   Cell Death Dis 14 (8), 516 (2023)
   PUBMED   37573356
  REMARK    GeneRIF: The APC/C E3 ligase subunit ANAPC11 mediates FOXO3 protein
            degradation to promote cell proliferation and lymph node metastasis
            in urothelial bladder cancer. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 638)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 638)
  AUTHORS   Drouet Y, Treilleux I, Viari A, Leon S, Devouassoux-Shisheboran M,
            Voirin N, de la Fouchardiere C, Manship B, Puisieux A, Lasset C and
            Moyret-Lalle C.
  TITLE     Integrated analysis highlights APC11 protein expression as a likely
            new independent predictive marker for colorectal cancer
  JOURNAL   Sci Rep 8 (1), 7386 (2018)
   PUBMED   29743633
  REMARK    GeneRIF: Overexpression of APC11 is correlated with chromosomal
            instability in colorectal cancer. An association is observed between
            APC11 expression and lymphovascular invasion and residual tumor.
            High levels of APC11 protein in primary colorectal tumors is
            specifically correlated with metastasis at diagnosis. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 638)
  AUTHORS   Zhang S, Chang L, Alfieri C, Zhang Z, Yang J, Maslen S, Skehel M and
            Barford D.
  TITLE     Molecular mechanism of APC/C activation by mitotic phosphorylation
  JOURNAL   Nature 533 (7602), 260-264 (2016)
   PUBMED   27120157
REFERENCE   5  (bases 1 to 638)
  AUTHORS   Brown NG, VanderLinden R, Watson ER, Qiao R, Grace CR, Yamaguchi M,
            Weissmann F, Frye JJ, Dube P, Ei Cho S, Actis ML, Rodrigues P, Fujii
            N, Peters JM, Stark H and Schulman BA.
  TITLE     RING E3 mechanism for ubiquitin ligation to a disordered substrate
            visualized for human anaphase-promoting complex
  JOURNAL   Proc Natl Acad Sci U S A 112 (17), 5272-5279 (2015)
   PUBMED   25825779
REFERENCE   6  (bases 1 to 638)
  AUTHORS   Gmachl M, Gieffers C, Podtelejnikov AV, Mann M and Peters JM.
  TITLE     The RING-H2 finger protein APC11 and the E2 enzyme UBC4 are
            sufficient to ubiquitinate substrates of the anaphase-promoting
            complex
  JOURNAL   Proc Natl Acad Sci U S A 97 (16), 8973-8978 (2000)
   PUBMED   10922056
REFERENCE   7  (bases 1 to 638)
  AUTHORS   Kramer ER, Scheuringer N, Podtelejnikov AV, Mann M and Peters JM.
  TITLE     Mitotic regulation of the APC activator proteins CDC20 and CDH1
  JOURNAL   Mol Biol Cell 11 (5), 1555-1569 (2000)
   PUBMED   10793135
REFERENCE   8  (bases 1 to 638)
  AUTHORS   Lukas C, Sorensen CS, Kramer E, Santoni-Rugiu E, Lindeneg C, Peters
            JM, Bartek J and Lukas J.
  TITLE     Accumulation of cyclin B1 requires E2F and cyclin-A-dependent
            rearrangement of the anaphase-promoting complex
  JOURNAL   Nature 401 (6755), 815-818 (1999)
   PUBMED   10548110
REFERENCE   9  (bases 1 to 638)
  AUTHORS   Ohta T, Michel JJ, Schottelius AJ and Xiong Y.
  TITLE     ROC1, a homolog of APC11, represents a family of cullin partners
            with an associated ubiquitin ligase activity
  JOURNAL   Mol Cell 3 (4), 535-541 (1999)
   PUBMED   10230407
REFERENCE   10  (bases 1 to 638)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH,
            Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BM549143.1, BC095454.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000344877.10/ ENSP00000339695.5
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY067392.1, BC000607.1, AF151048.1 and AK308091.1.
            On May 21, 2020 this sequence version replaced NM_001002248.2.
            Transcript Variant: This variant (6) uses an alternate splice site
            and contains an alternate exon in the 5' UTR and lacks an exon in
            the 3' coding region, which results in a frameshift, compared to
            variant 1. The encoded isoform (2) has a distinct C-terminus and is
            shorter than isoform 1. Variants 2, 3, 4, 5, 6, 7, 8, 9, 10, and 11
            encode the isoform 2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..638
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..638
                     /gene="ANAPC11"
                     /gene_synonym="APC11; Apc11p; HSPC214"
                     /note="anaphase promoting complex subunit 11"
                     /db_xref="GeneID:51529"
                     /db_xref="HGNC:HGNC:14452"
                     /db_xref="MIM:614534"
     misc_feature    179..181
                     /gene="ANAPC11"
                     /gene_synonym="APC11; Apc11p; HSPC214"
                     /note="upstream in-frame stop codon"
     CDS             194..448
                     /gene="ANAPC11"
                     /gene_synonym="APC11; Apc11p; HSPC214"
                     /note="isoform 2 is encoded by transcript variant 6;
                     anaphase promoting complex subunit 11 (yeast APC11
                     homolog); cyclosome subunit 11; hepatocellular
                     carcinoma-associated RING finger protein; APC11 anaphase
                     promoting complex subunit 11 homolog"
                     /codon_start=1
                     /product="anaphase-promoting complex subunit 11 isoform 2"
                     /protein_id="NP_001002248.1"
                     /db_xref="CCDS:CCDS11789.1"
                     /db_xref="GeneID:51529"
                     /db_xref="HGNC:HGNC:14452"
                     /db_xref="MIM:614534"
                     /translation="MKVKIKCWNGVATWLWVANDENCGICRMAFNGCCPDCKVPGDDCP
                     LVWGQCSHCFHMHCILKWLHAQQVQQHCPMCRQEWKFKE"
     regulatory      619..624
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANAPC11"
                     /gene_synonym="APC11; Apc11p; HSPC214"
                     /note="hexamer: ATTAAA"
     polyA_site      638
                     /gene="ANAPC11"
                     /gene_synonym="APC11; Apc11p; HSPC214"
                     /note="major polyA site"
ORIGIN
        1 gtgcgcactg gcgtgcgaga ctcggcgggc gctgttgagg gagtcgggcc gcgactgtgg
       61 tcgtttttat accttcccgc gcggacgccg gcgctgccaa cggaagggcg ggtagggcga
      121 gacggagttt cgtcatgttg gccaggccca tttgagatct ttgaagatat cctcaacgtg
      181 aggctctgct gccatgaagg tgaagattaa gtgctggaac ggcgtggcca cttggctctg
      241 ggtggccaac gatgagaact gtggcatctg caggatggca tttaacggat gctgccctga
      301 ctgcaaggtg cccggcgacg actgcccgct ggtgtggggc cagtgctccc actgcttcca
      361 catgcattgc atcctcaagt ggctgcacgc acagcaggtg cagcagcact gccccatgtg
      421 ccgccaggaa tggaagttca aggagtgagg cccgacctgg ctctcgctgg aggggcatcc
      481 tgagactcct tcctcatgct ggcgccgatg gctgctgggg acagcgcccc tgagctgcaa
      541 caaggtggaa acaagggctg gagctgcgtt tgttttgcca tcactatgtt gacactttta
      601 tccaataagt gaaaactcat taaactactc aaatcttg
//
LOCUS       NM_001002254            2124 bp    mRNA    linear   PRI 17-SEP-2023
DEFINITION  Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.
ACCESSION   NM_001002254
VERSION     NM_001002254.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2124)
  AUTHORS   Rho CR, Kim SW, Lane S, Gao F, Kim J, Xie Y, Brown DJ,
            Skowronska-Krawczyk D and Jester JV.
  TITLE     Expression of Acyl-CoA wax-alcohol acyltransferase 2 (AWAT2) by
            human and rabbit meibomian glands and meibocytes
  JOURNAL   Ocul Surf 23, 60-70 (2022)
   PUBMED   34838721
  REMARK    GeneRIF: Expression of Acyl-CoA wax-alcohol acyltransferase 2
            (AWAT2) by human and rabbit meibomian glands and meibocytes.
REFERENCE   2  (bases 1 to 2124)
  AUTHORS   Ma Z, Onorato JM, Chen L, Nelson DW, Yen CE and Cheng D.
  TITLE     Synthesis of neutral ether lipid monoalkyl-diacylglycerol by lipid
            acyltransferases
  JOURNAL   J Lipid Res 58 (6), 1091-1099 (2017)
   PUBMED   28420705
REFERENCE   3  (bases 1 to 2124)
  AUTHORS   Arne JM, Widjaja-Adhi MAK, Hughes T, Huynh KW, Silvaroli JA,
            Chelstowska S, Moiseenkova-Bell VY and Golczak M.
  TITLE     Allosteric modulation of the substrate specificity of acyl-CoA wax
            alcohol acyltransferase 2
  JOURNAL   J Lipid Res 58 (4), 719-730 (2017)
   PUBMED   28096191
REFERENCE   4  (bases 1 to 2124)
  AUTHORS   Kaylor JJ, Cook JD, Makshanoff J, Bischoff N, Yong J and Travis GH.
  TITLE     Identification of the 11-cis-specific retinyl-ester synthase in
            retinal Muller cells as multifunctional O-acyltransferase (MFAT)
  JOURNAL   Proc Natl Acad Sci U S A 111 (20), 7302-7307 (2014)
   PUBMED   24799687
REFERENCE   5  (bases 1 to 2124)
  AUTHORS   Holmes RS.
  TITLE     Comparative genomics and proteomics of vertebrate diacylglycerol
            acyltransferase (DGAT), acyl CoA wax alcohol acyltransferase (AWAT)
            and monoacylglycerol acyltransferase (MGAT)
  JOURNAL   Comp Biochem Physiol Part D Genomics Proteomics 5 (1), 45-54 (2010)
   PUBMED   20374941
REFERENCE   6  (bases 1 to 2124)
  AUTHORS   Yen CL, Brown CH 4th, Monetti M and Farese RV Jr.
  TITLE     A human skin multifunctional O-acyltransferase that catalyzes the
            synthesis of acylglycerols, waxes, and retinyl esters
  JOURNAL   J Lipid Res 46 (11), 2388-2397 (2005)
   PUBMED   16106050
  REMARK    GeneRIF: MFAT is a multifunctional acyltransferase that likely plays
            an important role in lipid metabolism in human skin.
REFERENCE   7  (bases 1 to 2124)
  AUTHORS   Turkish AR, Henneberry AL, Cromley D, Padamsee M, Oelkers P, Bazzi
            H, Christiano AM, Billheimer JT and Sturley SL.
  TITLE     Identification of two novel human acyl-CoA wax alcohol
            acyltransferases: members of the diacylglycerol acyltransferase 2
            (DGAT2) gene superfamily
  JOURNAL   J Biol Chem 280 (15), 14755-14764 (2005)
   PUBMED   15671038
  REMARK    GeneRIF: analysis of AWAT1 and AWAT2 substrate specificity and
            differentiation-specific expression pattern
REFERENCE   8  (bases 1 to 2124)
  AUTHORS   Cheng JB and Russell DW.
  TITLE     Mammalian wax biosynthesis. II. Expression cloning of wax synthase
            cDNAs encoding a member of the acyltransferase enzyme family
  JOURNAL   J Biol Chem 279 (36), 37798-37807 (2004)
   PUBMED   15220349
REFERENCE   9  (bases 1 to 2124)
  AUTHORS   Winter A, van Eckeveld M, Bininda-Emonds OR, Habermann FA and Fries
            R.
  TITLE     Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos
            taurus) and other mammals
  JOURNAL   Cytogenet Genome Res 102 (1-4), 42-47 (2003)
   PUBMED   14970677
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: AY605053.1 [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA2163623
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000276101.7/ ENSP00000421172.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY605053.1 and BC063698.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 30, 2004 this sequence version replaced XM_088683.3.
            Summary: This gene encodes an enzyme belonging to the
            diacylglycerol acyltransferase family. This enzyme produces wax
            esters by the esterification of long chain (or wax) alcohols with
            acyl-CoA-derived fatty acids. It functions in lipid metabolism in
            the skin, mostly in undifferentiated peripheral sebocytes. This
            enzyme may also have acyl-CoA:retinol acyltransferase activities,
            where it catalyzes the synthesis of diacylglycerols and retinyl
            esters. [provided by RefSeq, May 2010].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2124
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..2124
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /note="acyl-CoA wax alcohol acyltransferase 2"
                     /db_xref="GeneID:158835"
                     /db_xref="HGNC:HGNC:23251"
                     /db_xref="MIM:300925"
     CDS             7..1008
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /EC_number="2.3.1.75"
                     /EC_number="2.3.1.76"
                     /note="multifunctional O-acyltransferase; diacylglycerol
                     O-acyltransferase candidate 4; long-chain-alcohol
                     O-fatty-acyltransferase 2; diacylglycerol O-acyltransferase
                     2-like protein 4; retinol O-fatty-acyltransferase; acyl-CoA
                     retinol O-fatty-acyltransferase; 11-cis-RE-synthase;
                     11-cis-specific retinyl-ester synthase"
                     /codon_start=1
                     /product="acyl-CoA wax alcohol acyltransferase 2"
                     /protein_id="NP_001002254.1"
                     /db_xref="CCDS:CCDS35320.1"
                     /db_xref="GeneID:158835"
                     /db_xref="HGNC:HGNC:23251"
                     /db_xref="MIM:300925"
                     /translation="MLLPSKKDLKTALDVFAVFQWSFSALLITTTVIAVNLYLVVFTPY
                     WPVTVLILTWLAFDWKTPQRGGRRFTCVRHWRLWKHYSDYFPLKLLKTHDICPSRNYIL
                     VCHPHGLFAHGWFGHFATEASGFSKIFPGITPYILTLGAFFWMPFLREYVMSTGACSVS
                     RSSIDFLLTHKGTGNMVIVVIGGLAECRYSLPGSSTLVLKNRSGFVRMALQHGVPLIPA
                     YAFGETDLYDQHIFTPGGFVNRFQKWFQSMVHIYPCAFYGRGFTKNSWGLLPYSRPVTT
                     IVGEPLPMPKIENPSQEIVAKYHTLYIDALRKLFDQHKTKFGISETQELEII"
     misc_feature    49..111
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6E213.1);
                     transmembrane region"
     misc_feature    118..180
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6E213.1);
                     transmembrane region"
     misc_feature    394..456
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6E213.1);
                     transmembrane region"
     regulatory      1163..1168
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /note="hexamer: AATAAA"
     polyA_site      1186
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /note="major polyA site"
     regulatory      2103..2108
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /note="hexamer: CATAAA"
     polyA_site      2124
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /note="major polyA site"
ORIGIN
        1 ggcacaatgc tcttgccctc taagaaggac ctcaagactg ccctggatgt ctttgctgtt
       61 ttccagtggt ccttcagtgc cttgcttatc acaaccactg tgattgctgt caacctctac
      121 ctggtggtgt tcacaccata ctggcctgtc actgtgctta ttcttacctg gctggctttt
      181 gactggaaga cccctcagcg aggcggccgc cggtttacct gtgtgaggca ctggcgcctg
      241 tggaaacact acagcgatta tttccctctc aagcttctga agactcatga catctgcccc
      301 agccgcaact acatcctcgt ctgccaccct catgggctct ttgcccatgg atggtttggc
      361 cactttgcca cagaggcctc aggcttctcc aagatatttc ctggcatcac cccttacata
      421 ctcacactgg gagccttttt ctggatgcct ttcctcagag aatatgtaat gtctacaggg
      481 gcctgctctg tgagtcgatc ctccattgac tttctgctga ctcataaagg cacaggcaac
      541 atggtcattg tggtgattgg tggactggct gagtgcagat acagcctgcc aggttcttct
      601 accctggtgt tgaagaaccg gtctggcttt gtgcgcatgg cccttcagca tggggtgcct
      661 ctaatacctg cctatgcctt tggggagacg gacctctatg atcagcacat tttcactcct
      721 ggtggctttg tcaaccgctt ccagaagtgg ttccagagca tggtacacat ctacccttgt
      781 gctttctatg gacgtggctt caccaagaac tcctggggcc ttctgcccta tagtcggcct
      841 gtaaccacca tcgtcgggga gcctctacca atgcccaaga ttgagaatcc aagccaggag
      901 atcgtggcta aatatcacac actctatatt gatgccctac gtaaactgtt tgaccagcat
      961 aagaccaagt ttggtatctc agagacccag gagctggaga taatttgaca gacatcccca
     1021 gtagccttca ccctggctgg aagctctttt ctgccctttc tttgcagcta ctggtgagat
     1081 agtcccaaga aacagggaag agcctagggg agaggtgccc tgacggcact ttggtgccag
     1141 cattgaggaa aacaatggac aaaataaaaa gcccatcttc tgataactgc gtgtgcacca
     1201 actactctgt tttgaaggct ctgggatgca tgtctctcct tctctagctg tcaaacagcc
     1261 ccatctcccg gcattgagcc ccatcttctg gcattgagtc ctgcttccta caggagtagg
     1321 actggggcct tgagagccag tgggctttga gtttaagctc caccaacttc aagccatgtg
     1381 actttggggc aatcagtcac ctctgagcct cctttcttct tctataaaat gagactaaca
     1441 atctgtctct tgcttacctc aaaggccgtt gggaagatca aacaatattg gatgtgattg
     1501 aactttataa actggagagc tacaccattt tcttctccaa ccattttacc catttcctgt
     1561 ccctgagcaa acaacgcccg aaataccctc tgctacccac tagccctcac tcagtttctg
     1621 cctcacaaag ctgtaacaga atgggttggg ctcaggccta attttctctg tcattccctc
     1681 agcaacttgc ctatacttgt gtggccctat aattctggcc tttgtttgag agtcagccag
     1741 cctgctcagg atgaaaatga ggcgcctggc ttttagcagc cataaagaac tctccttctg
     1801 aatggcaagt ctctcagact cttggtctaa tggctgttgc aatgacaggc tacaaaattt
     1861 ggctcacatc cctctcattc catccctctt gggtgggtgc catttggtcc agtgatttac
     1921 ctgcattacg ttggtcaatt tggtctacaa catcctgcgt gtttactgca gtgtgagctg
     1981 ctgcctctat cctgggtgcc tgcctcatgt gatgatttgt atacagtggc caaagacatg
     2041 cttctgcttt tctgctgtct ttgttacttc ttgtgccaga gattacgttt tccctgagct
     2101 tccataaagt gtttttaaac agtc
//
LOCUS       NM_001002255            1017 bp    mRNA    linear   PRI 18-JUL-2023
DEFINITION  Homo sapiens small ubiquitin like modifier 4 (SUMO4), mRNA.
ACCESSION   NM_001002255
VERSION     NM_001002255.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1017)
  AUTHORS   Li H, Ning M, Li Q, Wang T, Li W, Xiao J, Wang L, Wang K, Zou R, Hao
            F, Yu M, Shi Y, Lei C, Wang Z, Yang Z, Xu H and Gong B.
  TITLE     The association of five polymorphisms with diabetic retinopathy in a
            Chinese population
  JOURNAL   Ophthalmic Genet 44 (4), 346-351 (2023)
   PUBMED   37066695
  REMARK    GeneRIF: The association of five polymorphisms with diabetic
            retinopathy in a Chinese population.
REFERENCE   2  (bases 1 to 1017)
  AUTHORS   Osmanovic A, Forster A, Widjaja M, Auber B, Das AM, Christians A,
            Brand F, Petri S and Weber RG.
  TITLE     A SUMO4 initiator codon variant in amyotrophic lateral sclerosis
            reduces SUMO4 expression and alters stress granule dynamics
  JOURNAL   J Neurol 269 (9), 4863-4871 (2022)
   PUBMED   35503374
  REMARK    GeneRIF: A SUMO4 initiator codon variant in amyotrophic lateral
            sclerosis reduces SUMO4 expression and alters stress granule
            dynamics.
REFERENCE   3  (bases 1 to 1017)
  AUTHORS   Kucukali CI, Salman B, Yuceer H, Ulusoy C, Abaci N, Ekmekci SS,
            Tuzun E, Bilgic B and Hanagasi HA.
  TITLE     Small ubiquitin-related modifier (SUMO) 3 and SUMO4 gene
            polymorphisms in Parkinson's disease
  JOURNAL   Neurol Res 42 (6), 451-457 (2020)
   PUBMED   32237992
  REMARK    GeneRIF: Small ubiquitin-related modifier (SUMO) 3 and SUMO4 gene
            polymorphisms in Parkinson's disease.
REFERENCE   4  (bases 1 to 1017)
  AUTHORS   Zhang T, Liu Y, Zeng R, Ling Q, Wen P, Fan J and Peng Z.
  TITLE     Association of donor small ubiquitin-like modifier 4 rs237025
            genetic variant with tacrolimus elimination in the early period
            after liver transplantation
  JOURNAL   Liver Int 38 (4), 724-732 (2018)
   PUBMED   28941036
  REMARK    GeneRIF: Donor SUMO4 rs237025 genetic variant was associated with
            higher tacrolimus C/D ratios in the early period after liver
            transplantation, which might be related to the down-regulation of
            CYP3A5 enzyme through the NF-kB signalling pathway.
REFERENCE   5  (bases 1 to 1017)
  AUTHORS   Zhang T, Liu Y, Hu Y, Zhang X, Zhong L, Fan J and Peng Z.
  TITLE     Association of donor and recipient SUMO4 rs237025 genetic variant
            with new-onset diabetes mellitus after liver transplantation in a
            Chinese population
  JOURNAL   Gene 627, 428-433 (2017)
   PUBMED   28689037
  REMARK    GeneRIF: Both donor and recipient SUMO4 rs237025 polymorphisms
            contribute to the development of new-onset diabetes mellitus after
            liver transplantation.
REFERENCE   6  (bases 1 to 1017)
  AUTHORS   Bohren KM, Nadkarni V, Song JH, Gabbay KH and Owerbach D.
  TITLE     A M55V polymorphism in a novel SUMO gene (SUMO-4) differentially
            activates heat shock transcription factors and is associated with
            susceptibility to type I diabetes mellitus
  JOURNAL   J Biol Chem 279 (26), 27233-27238 (2004)
   PUBMED   15123604
REFERENCE   7  (bases 1 to 1017)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   8  (bases 1 to 1017)
  AUTHORS   Zhoucun A, Zhang S and Xiao C.
  TITLE     Preliminary studies on associations of IDDM3, IDDM4, IDDM5 and IDDM8
            with IDDM in Chengdu population
  JOURNAL   Chin Med Sci J 16 (2), 120-122 (2001)
   PUBMED   12901503
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1017)
  AUTHORS   Luo DF, Buzzetti R, Rotter JI, Maclaren NK, Raffel LJ, Nistico L,
            Giovannini C, Pozzilli P, Thomson G and She JX.
  TITLE     Confirmation of three susceptibility genes to insulin-dependent
            diabetes mellitus: IDDM4, IDDM5 and IDDM8
  JOURNAL   Hum Mol Genet 5 (5), 693-698 (1996)
   PUBMED   8733139
REFERENCE   10  (bases 1 to 1017)
  AUTHORS   Davies JL, Kawaguchi Y, Bennett ST, Copeman JB, Cordell HJ,
            Pritchard LE, Reed PW, Gough SC, Jenkins SC, Palmer SM et al.
  TITLE     A genome-wide search for human type 1 diabetes susceptibility genes
  JOURNAL   Nature 371 (6493), 130-136 (1994)
   PUBMED   8072542
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: SRR7346977.1902974.1,
            SRR7346977.815715.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000326669.6/ ENSP00000318635.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031133.1 and AY340238.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001002255.1.
            Summary: This gene is a member of the SUMO gene family. This family
            of genes encode small ubiquitin-related modifiers that are attached
            to proteins and control the target proteins' subcellular
            localization, stability, or activity. The protein described in this
            record is located in the cytoplasm and specifically modifies IKBA,
            leading to negative regulation of NF-kappa-B-dependent
            transcription of the IL12B gene. A specific polymorphism in this
            SUMO gene, which leads to the M55V substitution, has been
            associated with type I diabetes. The RefSeq contains this
            polymorphism. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1017
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1"
     gene            1..1017
                     /gene="SUMO4"
                     /gene_synonym="dJ281H8.4; IDDM5; SMT3H4; SUMO-4"
                     /note="small ubiquitin like modifier 4"
                     /db_xref="GeneID:387082"
                     /db_xref="HGNC:HGNC:21181"
                     /db_xref="MIM:608829"
     misc_feature    71..73
                     /gene="SUMO4"
                     /gene_synonym="dJ281H8.4; IDDM5; SMT3H4; SUMO-4"
                     /note="upstream in-frame stop codon"
     CDS             131..418
                     /gene="SUMO4"
                     /gene_synonym="dJ281H8.4; IDDM5; SMT3H4; SUMO-4"
                     /note="small ubiquitin-like modifier 4 protein; SMT3
                     suppressor of mif two 3 homolog 2; SMT3 suppressor of mif
                     two 3 homolog 4; insulin-dependent diabetes mellitus 5"
                     /codon_start=1
                     /product="small ubiquitin-related modifier 4"
                     /protein_id="NP_001002255.1"
                     /db_xref="CCDS:CCDS34549.1"
                     /db_xref="GeneID:387082"
                     /db_xref="HGNC:HGNC:21181"
                     /db_xref="MIM:608829"
                     /translation="MANEKPTEEVKTENNNHINLKVAGQDGSVVQFKIKRQTPLSKLMK
                     AYCEPRGLSVKQIRFRFGGQPISGTDKPAQLEMEDEDTIDVFQQPTGGVY"
ORIGIN
        1 tgtgcacgca ccctctccct catccaccgc tgtcacctcc tgctgctctt cctgctgctc
       61 gtgtactcgt taggtgcgga cccgccacct cttttgtgaa gcagcagctg aggagactcc
      121 ggtgttcacc atggccaacg aaaagcccac agaagaagtc aagactgaga acaacaatca
      181 tattaatttg aaggtggcgg gacaggatgg ttctgtggtg cagtttaaga ttaagaggca
      241 gacaccactt agtaaactaa tgaaagccta ttgtgaacca cggggattgt cagtgaagca
      301 gatcagattc cgatttggtg ggcaaccaat cagtggaaca gacaaacctg cacagttgga
      361 aatggaagat gaagatacaa ttgatgtgtt tcaacagcct acgggaggtg tctactgaaa
      421 agggaacctg cttctttact ccagaacgct gttctttaaa gaccaagatt actgcattct
      481 caattagaaa actgcaattt ggttccacca cattctgact actacagtat agttttctct
      541 attcttttgt ttcccccttc cacattcttt tattatacat gaagtaactg gtatgtgtac
      601 acaagcatat tgcttttttc ttcaaaccaa acagccaatg gtatgttttg attgacatca
      661 agtggagaca ggatgggaaa aaatactgat tctgtgaaaa tacccccttt atccattagt
      721 ggcatgttca ttcaggtctt atctttatat tctagtaagt tattttgctc tcactgtttt
      781 aacaacaaca aaaaaaaatt ctcacatacc ttgttcaatt ggaggatttt catgtttttc
      841 atttatcatt gtaaaaccaa ggacaatttt ataacttttg tgtacatagc tgttacatgt
      901 agggcaatct gtctttaagt agggataaat tactctaaaa aaaaaagaaa gaatcctaga
      961 aagtttttcc ttcaagtcag gcttcttatt taaataaact ttttgtttaa aatgaaa
//
LOCUS       NM_001002257            4879 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens lysocardiolipin acyltransferase 1 (LCLAT1), transcript
            variant 2, mRNA.
ACCESSION   NM_001002257
VERSION     NM_001002257.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4879)
  AUTHORS   Huang LS, Kotha SR, Avasarala S, VanScoyk M, Winn RA, Pennathur A,
            Yashaswini PS, Bandela M, Salgia R, Tyurina YY, Kagan VE, Zhu X,
            Reddy SP, Sudhadevi T, Punathil-Kannan PK, Harijith A, Ramchandran
            R, Bikkavilli RK and Natarajan V.
  TITLE     Lysocardiolipin acyltransferase regulates NSCLC cell proliferation
            and migration by modulating mitochondrial dynamics
  JOURNAL   J Biol Chem 295 (38), 13393-13406 (2020)
   PUBMED   32732285
  REMARK    GeneRIF: Lysocardiolipin acyltransferase regulates NSCLC cell
            proliferation and migration by modulating mitochondrial dynamics.
REFERENCE   2  (bases 1 to 4879)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 4879)
  AUTHORS   Huang LS, Jiang P, Feghali-Bostwick C, Reddy SP, Garcia JGN and
            Natarajan V.
  TITLE     Lysocardiolipin acyltransferase regulates TGF-beta mediated lung
            fibroblast differentiation
  JOURNAL   Free Radic Biol Med 112, 162-173 (2017)
   PUBMED   28751023
  REMARK    GeneRIF: LYCAT regulates TGF-beta mediated lung fibroblast
            differentiation in pulmonary fibrosis.
REFERENCE   4  (bases 1 to 4879)
  AUTHORS   Huang LS, Mathew B, Li H, Zhao Y, Ma SF, Noth I, Reddy SP, Harijith
            A, Usatyuk PV, Berdyshev EV, Kaminski N, Zhou T, Zhang W, Zhang Y,
            Rehman J, Kotha SR, Gurney TO, Parinandi NL, Lussier YA, Garcia JG
            and Natarajan V.
  TITLE     The mitochondrial cardiolipin remodeling enzyme lysocardiolipin
            acyltransferase is a novel target in pulmonary fibrosis
  JOURNAL   Am J Respir Crit Care Med 189 (11), 1402-1415 (2014)
   PUBMED   24779708
  REMARK    GeneRIF: LYCAT expression was significantly altered in PBMCs and
            lung tissues from patients with idiopathic pulmonary fibrosis.
REFERENCE   5  (bases 1 to 4879)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   6  (bases 1 to 4879)
  AUTHORS   Wang C, Faloon PW, Tan Z, Lv Y, Zhang P, Ge Y, Deng H and Xiong JW.
  TITLE     Mouse lysocardiolipin acyltransferase controls the development of
            hematopoietic and endothelial lineages during in vitro embryonic
            stem-cell differentiation
  JOURNAL   Blood 110 (10), 3601-3609 (2007)
   PUBMED   17675553
REFERENCE   7  (bases 1 to 4879)
  AUTHORS   Tsuritani K, Irie T, Yamashita R, Sakakibara Y, Wakaguri H, Kanai A,
            Mizushima-Sugano J, Sugano S, Nakai K and Suzuki Y.
  TITLE     Distinct class of putative 'non-conserved' promoters in humans:
            comparative studies of alternative promoters of human and mouse
            genes
  JOURNAL   Genome Res 17 (7), 1005-1014 (2007)
   PUBMED   17567985
REFERENCE   8  (bases 1 to 4879)
  AUTHORS   Agarwal AK, Barnes RI and Garg A.
  TITLE     Functional characterization of human 1-acylglycerol-3-phosphate
            acyltransferase isoform 8: cloning, tissue distribution, gene
            structure, and enzymatic activity
  JOURNAL   Arch Biochem Biophys 449 (1-2), 64-76 (2006)
   PUBMED   16620771
REFERENCE   9  (bases 1 to 4879)
  AUTHORS   Cao J, Liu Y, Lockwood J, Burn P and Shi Y.
  TITLE     A novel cardiolipin-remodeling pathway revealed by a gene encoding
            an endoplasmic reticulum-associated acyl-CoA:lysocardiolipin
            acyltransferase (ALCAT1) in mouse
  JOURNAL   J Biol Chem 279 (30), 31727-31734 (2004)
   PUBMED   15152008
REFERENCE   10  (bases 1 to 4879)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX647953.1, SRR1803611.258104.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379509.8/ ENSP00000368823.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC146817.1, AC132154.3 and BX537607.1.
            On Jun 2, 2019 this sequence version replaced NM_001002257.2.
            Transcript Variant: This variant (2) differs in the 5' structure,
            and uses a downstream start codon, compared to variant 1. The
            encoded isoform (2) has a shorter N-terminus compared to isoform 1.
            Variants 2 and 4 encode the same isoform.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4879
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.1"
     gene            1..4879
                     /gene="LCLAT1"
                     /gene_synonym="1AGPAT8; AGPAT8; ALCAT1; HSRG1849; LPLAT6;
                     LYCAT; UNQ1849"
                     /note="lysocardiolipin acyltransferase 1"
                     /db_xref="GeneID:253558"
                     /db_xref="HGNC:HGNC:26756"
                     /db_xref="MIM:614241"
     misc_feature    68..70
                     /gene="LCLAT1"
                     /gene_synonym="1AGPAT8; AGPAT8; ALCAT1; HSRG1849; LPLAT6;
                     LYCAT; UNQ1849"
                     /note="upstream in-frame stop codon"
     CDS             143..1273
                     /gene="LCLAT1"
                     /gene_synonym="1AGPAT8; AGPAT8; ALCAT1; HSRG1849; LPLAT6;
                     LYCAT; UNQ1849"
                     /EC_number="2.3.1.51"
                     /note="isoform 2 is encoded by transcript variant 2;
                     acyl-CoA:lysocardiolipin acyltransferase 1;
                     1-acylglycerol-3-phosphate O-acyltransferase 8; 1-AGP
                     acyltransferase 8; 1-AGPAT 8; 1ysophospholipid
                     acyltransferase 6"
                     /codon_start=1
                     /product="lysocardiolipin acyltransferase 1 isoform 2"
                     /protein_id="NP_001002257.1"
                     /db_xref="CCDS:CCDS42670.1"
                     /db_xref="GeneID:253558"
                     /db_xref="HGNC:HGNC:26756"
                     /db_xref="MIM:614241"
                     /translation="MVSWKGIYFILTLFWGSFFGSIFMLSPFLPLMFVNPSWYRWINNR
                     LVATWLTLPVALLETMFGVKVIITGDAFVPGERSVIIMNHRTRMDWMFLWNCLMRYSYL
                     RLEKICLKASLKGVPGFGWAMQAAAYIFIHRKWKDDKSHFEDMIDYFCDIHEPLQLLIF
                     PEGTDLTENSKSRSNAFAEKNGLQKYEYVLHPRTTGFTFVVDRLREGKNLDAVHDITVA
                     YPHNIPQSEKHLLQGDFPREIHFHVHRYPIDTLPTSKEDLQLWCHKRWEEKEERLRSFY
                     QGEKNFYFTGQSVIPPCKSELRVLVVKLLSILYWTLFSPAMCLLIYLYSLVKWYFIITI
                     VIFVLQERIFGGLEIIELACYRLLHKQPHLNSKKNE"
     regulatory      4854..4859
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LCLAT1"
                     /gene_synonym="1AGPAT8; AGPAT8; ALCAT1; HSRG1849; LPLAT6;
                     LYCAT; UNQ1849"
                     /note="hexamer: AATAAA"
     polyA_site      4879
                     /gene="LCLAT1"
                     /gene_synonym="1AGPAT8; AGPAT8; ALCAT1; HSRG1849; LPLAT6;
                     LYCAT; UNQ1849"
                     /note="major polyA site"
ORIGIN
        1 actagggcga cggccggacg cctccgcgtt acgggatgaa ttaacggcgg gttccgcacg
       61 gaggttgtga cccctacgga gccccagctt gcccacgcac cccactcggc gtcgcgcggc
      121 gtgccctgct tgtcacagaa tcatggtgtc atggaaaggg atttacttta tactgactct
      181 gttttgggga agcttttttg gaagcatttt catgctgagt ccctttttac ctttgatgtt
      241 tgtaaaccca tcttggtatc gctggatcaa caaccgcctt gtggcaacat ggctcaccct
      301 acctgtggca ttattggaga ccatgtttgg tgtaaaagtg attataactg gggatgcatt
      361 tgttcctgga gaaagaagtg tcattatcat gaaccatcgg acaagaatgg actggatgtt
      421 cctgtggaat tgcctgatgc gatatagcta cctcagattg gagaaaattt gcctcaaagc
      481 gagtctcaaa ggtgttcctg gatttggttg ggccatgcag gctgctgcct atatcttcat
      541 tcataggaaa tggaaggatg acaagagcca tttcgaagac atgattgatt acttttgtga
      601 tattcacgaa ccacttcaac tcctcatatt cccagaaggg actgatctca cagaaaacag
      661 caagtctcga agtaatgcat ttgctgaaaa aaatggactt cagaaatatg aatatgtttt
      721 acatccaaga actacaggct ttacttttgt ggtagaccgt ctaagagaag gtaagaacct
      781 tgatgctgtc catgatatca ctgtggcgta tcctcacaac attcctcaat cagagaagca
      841 cctcctccaa ggagactttc ccagggaaat ccactttcac gtccaccggt atccaataga
      901 caccctcccc acatccaagg aggaccttca actctggtgc cacaaacggt gggaagagaa
      961 agaagagagg ctgcgttcct tctatcaagg ggagaagaat ttttatttta ccggacagag
     1021 tgtcattcca ccttgcaagt ctgaactcag ggtccttgtg gtcaaattgc tctctatact
     1081 gtattggacc ctgttcagcc ctgcaatgtg cctactcata tatttgtaca gtcttgttaa
     1141 gtggtatttt ataatcacca ttgtaatctt tgtgctgcaa gagagaatat ttggtggact
     1201 ggagatcata gaacttgcat gttaccgact tttacacaaa cagccacatt taaattcaaa
     1261 gaaaaatgag taagattata aggtttgcca tgtgaaaacc tagagcatat tttggaaatg
     1321 ttctaaacct ttctaagctc agatgcattt ttgcatgact atgtcgaata tttcttactg
     1381 ccatcattat ttgttaaaga tattttgcac ttaattttgt gggaaaaata ttgctacaat
     1441 tttttttaat ctctgaatgt aatttcgata ctgtgtacat agcagggagt gatcggggtg
     1501 aaataacttg ggccagaata ttattaaaca atcatcaggc ttttagcgac aaggaacaca
     1561 cacatttttc ttaaaggccc aatcctaaca gactccccgt accagaggca gatctggaac
     1621 tcgtcaacaa cagcccggat cacatgctgt tactggactg cccaggtcac ctcattgagg
     1681 tgagcgctgt ccctccaggt actcaggcag gtggtgccca ggctccctcc cttggcgtcc
     1741 ttcttcctgc gccaaaccca tctcatcctt aagatcagaa aatggaaccc cctttgtcgt
     1801 gaaaccgatc aagcattttg acaggaagcc cttcattatt cataacattg tatgctgacc
     1861 aagacgtcag aagaccacct gtgccctttt ctctcgtgga agataaaacc tggactcagg
     1921 gagcaaccac aggctctcca ctttgaaact ttagtttgaa ttttaaaaga taggaagtaa
     1981 tacagtttaa gttcctttct cacactcagt attgcatgct tagtgctggt tttcttacaa
     2041 cattttggca ggtgtagctt tttctgttaa aaatggtata catgaagtca catacttttt
     2101 taaaggaaca ctcagaacat tctgtcattc cagtcagaaa ctgtcttttg aaatatttct
     2161 ttacaaccta ccaaaaaagg aaggttgttt tttctacatg tgcttgggta tctaacatct
     2221 accattaaaa caacaaatgg cttgcagaca gggcagtaat ggtttatcct aaattactca
     2281 accccttgta gccttgacaa attttacctt aaaaccaaaa tgaaacacaa aaattaatcc
     2341 ttaataatga tagcaagtga tctttctttt tagttttagc cttccttttt caatagtaat
     2401 atttaaaccc acttttgacc aattgtttgc ccaaatattc ttgtcatttg gagtcagtgg
     2461 aaaatccagc acaccaagca ccagtcttct tctgaggcaa aagaaaagtg ttgtcatttt
     2521 cactctgttg gagctgcaca cttttttttc tttttttttt tctttttttt tttgtcgtgt
     2581 aagaaggatg ctggtcagag ctgcagaaaa tatgaggcaa ttaaaagtct ttagctgtta
     2641 gcaaacctgt tagttttact tctgcattga accagcctca gaagctactt actgctttat
     2701 gtactctttg ggcattaatg ccttctctgt aattatatct cgtttttgct tgacagtgac
     2761 ctacccaata attgcatcgt gcattgccat gaaaggtaaa cacattgtga actgaactta
     2821 ccaagcagat tctgtgagaa agcactggtt gaggctgaac actgttgaca catcattttt
     2881 attggaagag tattaactgg tgcctcttct gaaacacacc aacccatatt cctctgctcc
     2941 cccaaagctg tttctgatcc tgctgggagc aactaactag ttattatgca catctgctcc
     3001 agacccagct ctttaacttc atggttttac agcttgtttt ttctttttct tttctttttt
     3061 tttttttttt tttaaaaaag cacctttttt tgttgtttcc ccttaataaa agaggtttct
     3121 aatttatgtt tctctaagat ttcctttggt tgtatttaga aacacaaata gttttataat
     3181 caggattgca tttgtgctgg gtaaaagagg agagctgtgc tttctacccc aaagttgttg
     3241 gtaatggagc cggtctgccc ttcctacaaa ctcaagaggc tcattgttca aggtgtaaca
     3301 acatttaatt gcatgtcctc taacgctttg aaacctttag agggaagatc ctcatttttt
     3361 acaattttgt tccttttcat catagaaaac atgtttaaga taaaatacaa actttaccta
     3421 ccccaaattc ataaagtaca tttagtgctg tatagcacta aaacttagag atacagacac
     3481 tgtacttact ttttaagaat tagagacagt aactccaaaa ataattgtcc ttttttcttt
     3541 ctttcttttt ttacaataag gctcttgaaa attgtcatta cttgtgtttt cctatacatt
     3601 catctgtgtg aaagcctttt tcttctttga tttaaaaaaa ttaactatac agttaatggt
     3661 ttagaactta gaactactta gaattaatgc taaagtgtca ggaagaaatt aatttagctt
     3721 caataattgt gactggcctc aggaattctc ccttccacac ctgcccacct cacctcactg
     3781 caccgcaccg caccagagcc agagcagctg cttgtctgca gcaggacaca gttcctacat
     3841 acgtttcagt tctttcatgg taagctcaat ggactttgaa ttgtttacag tgctgtatgt
     3901 ccaattgtta aatgtaccat tctgaacgat gttaaagcaa gtgtggttta tttatggcat
     3961 gaaccatgta acttgaaata tgaacttaca aggaggggca ctcattaggt aacaagttct
     4021 tacaccaaac ttccttgatg aaataagcca aaataatcct aaaattcatt agaagaactt
     4081 gataaaagac tcaaataaat gttagaaaga gcccgtaatt ttaggactcc tataaaattc
     4141 ttccttgttt gttaatgcta ttaaaactca gattcaaggg aaataccagc ttccacttga
     4201 gtcactttga aatagttaat tcaacagcac catgttagaa atatattggc agccaagact
     4261 ctgaactctg cagaaacatt tgtttcaccc agacttcaaa ctctagccct gactatgatg
     4321 cccctgtgtg catttacaat aaagactcca acggagggag cctgttggtg ttaaattgtt
     4381 tacatttctt tatacaaata atgtgctttc agtgccttag ttacagctcc ctttctgttt
     4441 cttgttccaa ggattctgta gtatgtagtg tgtttcttag gtaaagtctc tttttgctac
     4501 tgaaagggaa atggtctcta aacactggtc actgtagcag gtaaacacta ctctaacgtg
     4561 gagaaatgag cttcatgctg aggtagtggt tgccttagag ctgttattta tgctgtagaa
     4621 aacgaaaatg gttttgctac ctgataagct tcagattaga tatagcccta aagttatcct
     4681 gtacctgcat taaattttca ttttagaaga gaatcttggt tttggtaatt catttttttt
     4741 taagatcatt atgtgcaaaa caccaagttt taaaaataac tcacagaatg gccttagttt
     4801 tcaatgtctg atggtatatt tgtgagttgt gttatctgta atatacatcc cagaataaag
     4861 gagtgaatta aatagttta
//
LOCUS       NM_001002294            2059 bp    mRNA    linear   PRI 19-JUN-2023
DEFINITION  Homo sapiens flavin containing dimethylaniline monoxygenase 3
            (FMO3), transcript variant 2, mRNA.
ACCESSION   NM_001002294
VERSION     NM_001002294.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2059)
  AUTHORS   Cleary Y, Kletzl H, Grimsey P, Heinig K, Ogungbenro K, Silber
            Baumann HE, Frey N, Aarons L, Galetin A and Gertz M.
  TITLE     Estimation of FMO3 Ontogeny by Mechanistic Population
            Pharmacokinetic Modelling of Risdiplam and Its Impact on Drug-Drug
            Interactions in Children
  JOURNAL   Clin Pharmacokinet 62 (6), 891-904 (2023)
   PUBMED   37148485
  REMARK    GeneRIF: Estimation of FMO3 Ontogeny by Mechanistic Population
            Pharmacokinetic Modelling of Risdiplam and Its Impact on Drug-Drug
            Interactions in Children.
REFERENCE   2  (bases 1 to 2059)
  AUTHORS   Shimizu M, Yamamoto A, Makiguchi M, Shimamura E, Yokota Y, Harano M
            and Yamazaki H.
  TITLE     A family study of compound variants of flavin-containing
            monooxygenase 3 (FMO3) in Japanese subjects found by urinary
            phenotyping for trimethylaminuria
  JOURNAL   Drug Metab Pharmacokinet 50, 100490 (2023)
   PUBMED   36889044
  REMARK    GeneRIF: A family study of compound variants of flavin-containing
            monooxygenase 3 (FMO3) in Japanese subjects found by urinary
            phenotyping for trimethylaminuria.
REFERENCE   3  (bases 1 to 2059)
  AUTHORS   Moradzad M, Abdi M, Sheikh Esmaeili F, Ghaderi D, Rahmani K, Moloudi
            MR and Vahabzadeh Z.
  TITLE     Possible correlation between high circulatory levels of
            trimethylamine-N-oxide and 2177G>C polymorphisms of hepatic flavin
            containing monooxygenase 3 in Kurdish Population with non-alcoholic
            fatty liver disease
  JOURNAL   Mol Biol Rep 49 (7), 5927-5937 (2022)
   PUBMED   35348964
  REMARK    GeneRIF: Possible correlation between high circulatory levels of
            trimethylamine-N-oxide and 2177G>C polymorphisms of hepatic flavin
            containing monooxygenase 3 in Kurdish Population with non-alcoholic
            fatty liver disease.
REFERENCE   4  (bases 1 to 2059)
  AUTHORS   Alibrandi S, Nicita F, Donato L, Scimone C, Rinaldi C, D'Angelo R
            and Sidoti A.
  TITLE     Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored
            Scenarios Linking Variant Haplotypes to TMAU Phenotypes
  JOURNAL   Molecules 26 (22), 7045 (2021)
   PUBMED   34834137
  REMARK    GeneRIF: Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil
            Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2059)
  AUTHORS   Cheropkina H, Catucci G, Marucco A, Fenoglio I, Gilardi G and
            Sadeghi SJ.
  TITLE     Human flavin-containing monooxygenase 1 and its long-sought
            hydroperoxyflavin intermediate
  JOURNAL   Biochem Pharmacol 193, 114763 (2021)
   PUBMED   34509493
  REMARK    GeneRIF: Human flavin-containing monooxygenase 1 and its long-sought
            hydroperoxyflavin intermediate.
REFERENCE   6  (bases 1 to 2059)
  AUTHORS   Phillips,I.R. and Shephard,E.A.
  TITLE     Primary Trimethylaminuria
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301282
REFERENCE   7  (bases 1 to 2059)
  AUTHORS   Lomri N, Gu Q and Cashman JR.
  TITLE     Molecular cloning of the flavin-containing monooxygenase (form II)
            cDNA from adult human liver
  JOURNAL   Proc Natl Acad Sci U S A 89 (5), 1685-1689 (1992)
   PUBMED   1542660
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 1995 Oct 10;92(21):9910. PMID:
            7568243]
REFERENCE   8  (bases 1 to 2059)
  AUTHORS   Ziegler DM.
  TITLE     Flavin-containing monooxygenases: enzymes adapted for multisubstrate
            specificity
  JOURNAL   Trends Pharmacol Sci 11 (8), 321-324 (1990)
   PUBMED   2203193
  REMARK    Review article
REFERENCE   9  (bases 1 to 2059)
  AUTHORS   Higgins,T., Chaykin,S., Hammond,K.B. and Humbert,J.R.
  TITLE     Trimethylamine N-oxide synthesis: a human variant
  JOURNAL   Biochem Med 6 (4), 392-396 (1972)
   PUBMED   5048998
REFERENCE   10  (bases 1 to 2059)
  AUTHORS   Humbert,J.A., Hammond,K.B. and Hathaway,W.E.
  TITLE     Trimethylaminuria: the fish-odour syndrome
  JOURNAL   Lancet 2 (7676), 770-771 (1970)
   PUBMED   4195988
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK223166.1, SRR1803615.156246.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367755.9/ ENSP00000356729.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313197.1, BC032016.1 and
            AK223166.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001002294.2.
            Summary: Flavin-containing monooxygenases (FMO) are an important
            class of drug-metabolizing enzymes that catalyze the
            NADPH-dependent oxygenation of various nitrogen-,sulfur-, and
            phosphorous-containing xenobiotics such as therapeutic drugs,
            dietary compounds, pesticides, and other foreign compounds. The
            human FMO gene family is composed of 5 genes and multiple
            pseudogenes. FMO members have distinct developmental- and
            tissue-specific expression patterns. The expression of this FMO3
            gene, the major FMO expressed in adult liver, can vary up to
            20-fold between individuals. This inter-individual variation in
            FMO3 expression levels is likely to have significant effects on the
            rate at which xenobiotics are metabolised and, therefore, is of
            considerable interest to the pharmaceutical industry. This
            transmembrane protein localizes to the endoplasmic reticulum of
            many tissues. Alternative splicing of this gene results in multiple
            transcript variants encoding different isoforms. Mutations in this
            gene cause the disorder trimethylaminuria (TMAu) which is
            characterized by the accumulation and excretion of unmetabolized
            trimethylamine and a distinctive body odor. In healthy individuals,
            trimethylamine is primarily converted to the non odorous
            trimethylamine N-oxide.[provided by RefSeq, Jan 2016].
            Transcript Variant: This variant (2) encodes the longest isoform
            (a). Variants 1 and 2 both encode the same isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2059
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.3"
     gene            1..2059
                     /gene="FMO3"
                     /gene_synonym="dJ127D3.1; FMOII; TMAU"
                     /note="flavin containing dimethylaniline monoxygenase 3"
                     /db_xref="GeneID:2328"
                     /db_xref="HGNC:HGNC:3771"
                     /db_xref="MIM:136132"
     CDS             84..1682
                     /gene="FMO3"
                     /gene_synonym="dJ127D3.1; FMOII; TMAU"
                     /EC_number="1.14.13.8"
                     /EC_number="1.14.13.148"
                     /EC_number="1.14.13.32"
                     /note="isoform a is encoded by transcript variant 2;
                     dimethylaniline oxidase 3; dimethylaniline monooxygenase
                     [N-oxide-forming] 3; hepatic flavin-containing
                     monooxygenase-3; FMO form 2; flavin containing
                     monooxygenase 3; trimethylamine monooxygenase"
                     /codon_start=1
                     /product="flavin-containing monooxygenase 3 isoform a"
                     /protein_id="NP_001002294.1"
                     /db_xref="CCDS:CCDS1292.1"
                     /db_xref="GeneID:2328"
                     /db_xref="HGNC:HGNC:3771"
                     /db_xref="MIM:136132"
                     /translation="MGKKVAIIGAGVSGLASIRSCLEEGLEPTCFEKSNDIGGLWKFSD
                     HAEEGRASIYKSVFSNSSKEMMCFPDFPFPDDFPNFMHNSKIQEYIIAFAKEKNLLKYI
                     QFKTFVSSVNKHPDFATTGQWDVTTERDGKKESAVFDAVMVCSGHHVYPNLPKESFPGL
                     NHFKGKCFHSRDYKEPGVFNGKRVLVVGLGNSGCDIATELSRTAEQVMISSRSGSWVMS
                     RVWDNGYPWDMLLVTRFGTFLKNNLPTAISDWLYVKQMNARFKHENYGLMPLNGVLRKE
                     PVFNDELPASILCGIVSVKPNVKEFTETSAIFEDGTIFEGIDCVIFATGYSFAYPFLDE
                     SIIKSRNNEIILFKGVFPPLLEKSTIAVIGFVQSLGAAIPTVDLQSRWAAQVIKGTCTL
                     PSMEDMMNDINEKMEKKRKWFGKSETIQTDYIVYMDELSSFIGAKPNIPWLFLTDPKLA
                     MEVYFGPCSPYQFRLVGPGQWPGARNAILTQWDRSLKPMQTRVVGRLQKPCFFFHWLKL
                     FAIPILLIAVFLVLT"
     misc_feature    1284..1286
                     /gene="FMO3"
                     /gene_synonym="dJ127D3.1; FMOII; TMAU"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97501; propagated from
                     UniProtKB/Swiss-Prot (P31513.5); phosphorylation site"
     misc_feature    1611..1673
                     /gene="FMO3"
                     /gene_synonym="dJ127D3.1; FMOII; TMAU"
                     /note="propagated from UniProtKB/Swiss-Prot (P31513.5);
                     transmembrane region"
     regulatory      1750..1755
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FMO3"
                     /gene_synonym="dJ127D3.1; FMOII; TMAU"
                     /note="hexamer: ATTAAA"
     polyA_site      1767
                     /gene="FMO3"
                     /gene_synonym="dJ127D3.1; FMOII; TMAU"
                     /note="major polyA site"
     regulatory      2028..2033
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FMO3"
                     /gene_synonym="dJ127D3.1; FMOII; TMAU"
                     /note="hexamer: AATAAA"
     polyA_site      2059
                     /gene="FMO3"
                     /gene_synonym="dJ127D3.1; FMOII; TMAU"
                     /note="major polyA site"
ORIGIN
        1 aaactgccca gacggttgga caggacgtag acacacagaa gaaaagaaga caaagaacgg
       61 gtaggaaaat taaaaaggtt accatgggga agaaagtggc catcattgga gctggtgtga
      121 gtggcttggc ctccatcagg agctgtctgg aagaggggct ggagcccacc tgctttgaga
      181 agagcaatga cattgggggc ctgtggaaat tttcagacca tgcagaggag ggcagggcta
      241 gcatttacaa atcagtcttt tccaactctt ccaaagagat gatgtgtttc ccagacttcc
      301 catttcccga tgacttcccc aactttatgc acaacagcaa gatccaggaa tatatcattg
      361 catttgccaa agaaaagaac ctcctgaagt acatacaatt taagacattt gtatccagtg
      421 taaataaaca tcctgatttt gcaactactg gccagtggga tgttaccact gaaagggatg
      481 gtaaaaaaga atcggctgtc tttgatgctg taatggtttg ttccggacat catgtgtatc
      541 ccaacctacc aaaagagtcc tttccaggac taaaccactt taaaggcaaa tgcttccaca
      601 gcagggacta taaagaacca ggtgtattca atggaaagcg tgtcctggtg gttggcctgg
      661 ggaattcggg ctgtgatatt gccacagaac tcagccgcac agcagaacag gtcatgatca
      721 gttccagaag tggctcctgg gtgatgagcc gggtctggga caatggttat ccttgggaca
      781 tgctgctcgt cactcgattt ggaaccttcc tcaagaacaa tttaccgaca gccatctctg
      841 actggttgta cgtgaagcag atgaatgcaa gattcaagca tgaaaactat ggcttgatgc
      901 ctttaaatgg agtcctgagg aaagagcctg tatttaacga tgagctccca gcaagcattc
      961 tgtgtggcat tgtgtccgta aagcctaacg tgaaggaatt cacagagacc tcggccattt
     1021 ttgaggatgg gaccatattt gagggcattg actgtgtaat ctttgcaaca gggtatagtt
     1081 ttgcctaccc cttccttgat gagtctatca tcaaaagcag aaacaatgag atcattttat
     1141 ttaaaggagt atttcctcct ctacttgaga agtcaaccat agcagtgatt ggctttgtcc
     1201 agtcccttgg ggctgccatt cccacagttg acctccagtc ccgctgggca gcacaagtaa
     1261 taaagggaac ttgtactttg ccttctatgg aagacatgat gaatgatatt aatgagaaaa
     1321 tggagaaaaa gcgcaaatgg tttggcaaaa gcgagaccat acagacagat tacattgttt
     1381 atatggatga actctcctcc ttcattgggg caaagcccaa catcccatgg ctgtttctca
     1441 cagatcccaa attggccatg gaagtttatt ttggcccttg tagtccctac cagtttaggc
     1501 tggtgggccc agggcagtgg ccaggagcca gaaatgccat actgacccag tgggaccggt
     1561 cgttgaaacc catgcagaca cgagtggtcg ggagacttca gaagccttgc ttctttttcc
     1621 attggctgaa gctctttgca attcctattc tgttaatcgc tgttttcctt gtgttgacct
     1681 aatcatcatt ttctctagga tttctgaaag ttactgacaa tacccagaca ggggctttgc
     1741 tatttaaaaa ttaaaatttt cacaccacct gcttttctat tcagcatctt ttgcagtact
     1801 ctgtagacat tagtcagtaa tacagtgtta tttctaggct ctgaaatagc cactttaaga
     1861 atcatgtcat gatcttaaga gagcactaat catttctgtt tgagttccac taacacttca
     1921 aaatcagaac tatgttcttt atatctaact taaatcattt cctgaaacat tttgacatga
     1981 ttcctttttc cttttaaaca atgtatgaaa gatgtatttt aaatctaaat aaagagcaaa
     2041 ttaagcagaa taattataa
//
LOCUS       NM_001002295            3083 bp    mRNA    linear   PRI 13-JUL-2023
DEFINITION  Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1,
            mRNA.
ACCESSION   NM_001002295
VERSION     NM_001002295.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3083)
  AUTHORS   Liu S, Cao X, Li J and Liu J.
  TITLE     ZNF503 combined with GATA3 is a prognostic factor in triple-negative
            breast cancer
  JOURNAL   Biomarkers 28 (5), 437-447 (2023)
   PUBMED   37036735
  REMARK    GeneRIF: ZNF503 combined with GATA3 is a prognostic factor in
            triple-negative breast cancer.
REFERENCE   2  (bases 1 to 3083)
  AUTHORS   Baban F, Koepplin JW, Ahmad M, Clarke-Brodber AL, Bois MC, Hartley
            CP and Sturgis CD.
  TITLE     TRPS1 outperforms GATA3 in pleural effusions with metastatic breast
            carcinoma versus mesothelioma
  JOURNAL   Diagn Cytopathol 51 (8), 488-492 (2023)
   PUBMED   37096814
  REMARK    GeneRIF: TRPS1 outperforms GATA3 in pleural effusions with
            metastatic breast carcinoma versus mesothelioma.
REFERENCE   3  (bases 1 to 3083)
  AUTHORS   Zhu Z, Shen H, Xu J, Fang Z, Wo G, Ma Y, Yang K, Wang Y, Yu Q and
            Tang JH.
  TITLE     GATA3 mediates doxorubicin resistance by inhibiting CYB5R2-catalyzed
            iron reduction in breast cancer cells
  JOURNAL   Drug Resist Updat 69, 100974 (2023)
   PUBMED   37230023
  REMARK    GeneRIF: GATA3 mediates doxorubicin resistance by inhibiting
            CYB5R2-catalyzed iron reduction in breast cancer cells.
REFERENCE   4  (bases 1 to 3083)
  AUTHORS   Liu X, Bai F, Wang Y, Wang C, Chan HL, Zheng C, Fang J, Zhu WG and
            Pei XH.
  TITLE     Loss of function of GATA3 regulates FRA1 and c-FOS to activate EMT
            and promote mammary tumorigenesis and metastasis
  JOURNAL   Cell Death Dis 14 (6), 370 (2023)
   PUBMED   37353480
  REMARK    GeneRIF: Loss of function of GATA3 regulates FRA1 and c-FOS to
            activate EMT and promote mammary tumorigenesis and metastasis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3083)
  AUTHORS   Chen HV, Lorenzini MH, Lavalle SN, Sajeev K, Fonseca A, Fiaux PC,
            Sen A, Luthra I, Ho AJ, Chen AR, Guruvayurappan K, O'Connor C and
            McVicker G.
  TITLE     Deletion mapping of regulatory elements for GATA3 in T cells reveals
            a distal enhancer involved in allergic diseases
  JOURNAL   Am J Hum Genet 110 (4), 703-714 (2023)
   PUBMED   36990085
  REMARK    GeneRIF: Deletion mapping of regulatory elements for GATA3 in T
            cells reveals a distal enhancer involved in allergic diseases.
REFERENCE   6  (bases 1 to 3083)
  AUTHORS   Siegel MD, Zhang DH, Ray P and Ray A.
  TITLE     Activation of the interleukin-5 promoter by cAMP in murine EL-4
            cells requires the GATA-3 and CLE0 elements
  JOURNAL   J Biol Chem 270 (41), 24548-24555 (1995)
   PUBMED   7592673
REFERENCE   7  (bases 1 to 3083)
  AUTHORS   Marine J and Winoto A.
  TITLE     The human enhancer-binding protein Gata3 binds to several T-cell
            receptor regulatory elements
  JOURNAL   Proc Natl Acad Sci U S A 88 (16), 7284-7288 (1991)
   PUBMED   1871134
REFERENCE   8  (bases 1 to 3083)
  AUTHORS   Joulin V, Bories D, Eleouet JF, Labastie MC, Chretien S, Mattei MG
            and Romeo PH.
  TITLE     A T-cell specific TCR delta DNA binding protein is a member of the
            human GATA family
  JOURNAL   EMBO J 10 (7), 1809-1816 (1991)
   PUBMED   2050118
REFERENCE   9  (bases 1 to 3083)
  AUTHORS   Ko LJ, Yamamoto M, Leonard MW, George KM, Ting P and Engel JD.
  TITLE     Murine and human T-lymphocyte GATA-3 factors mediate transcription
            through a cis-regulatory element within the human T-cell receptor
            delta gene enhancer
  JOURNAL   Mol Cell Biol 11 (5), 2778-2784 (1991)
   PUBMED   2017177
REFERENCE   10  (bases 1 to 3083)
  AUTHORS   Ho IC, Vorhees P, Marin N, Oakley BK, Tsai SF, Orkin SH and Leiden
            JM.
  TITLE     Human GATA-3: a lineage-restricted transcription factor that
            regulates the expression of the T cell receptor alpha gene
  JOURNAL   EMBO J 10 (5), 1187-1192 (1991)
   PUBMED   1827068
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC006793.1, SRR1163657.278544.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379328.9/ ENSP00000368632.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL390294.19, BC006793.1,
            BM152193.1, BC003070.2, BC006839.1, AI024501.1 and AI686327.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001002295.1.
            Summary: This gene encodes a protein which belongs to the GATA
            family of transcription factors. The protein contains two GATA-type
            zinc fingers and is an important regulator of T-cell development
            and plays an important role in endothelial cell biology. Defects in
            this gene are the cause of hypoparathyroidism with sensorineural
            deafness and renal dysplasia. [provided by RefSeq, Nov 2009].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3083
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p14"
     gene            1..3083
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="GATA binding protein 3"
                     /db_xref="GeneID:2625"
                     /db_xref="HGNC:HGNC:4172"
                     /db_xref="MIM:131320"
     misc_feature    391..393
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="upstream in-frame stop codon"
     CDS             574..1908
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="isoform 1 is encoded by transcript variant 1;
                     trans-acting T-cell-specific transcription factor GATA-3;
                     GATA-binding factor 3"
                     /codon_start=1
                     /product="trans-acting T-cell-specific transcription factor
                     GATA-3 isoform 1"
                     /protein_id="NP_001002295.1"
                     /db_xref="CCDS:CCDS31143.1"
                     /db_xref="GeneID:2625"
                     /db_xref="HGNC:HGNC:4172"
                     /db_xref="MIM:131320"
                     /translation="MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPE
                     EVDVLFNIDGQGNHVPPYYGNSVRATVQRYPPTHHGSQVCRPPLLHGSLPWLDGGKALG
                     SHHTASPWNLSPFSKTSIHHGSPGPLSVYPPASSSSLSGGHASPHLFTFPPTPPKDVSP
                     DPSLSTPGSAGSARQDEKECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTY
                     PPYVPEYSSGLFPPSSLLGGSPTGFGCKSRPKARSSTEGRECVNCGATSTPLWRRDGTG
                     HYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCANCQTTTTTLWRRNANGDPVCN
                     ACGLYYKLHNINRPLTMKKEGIQTRNRKMSSKSKKCKKVHDSLEDFPKNSSFNPAALSR
                     HMSSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG"
     misc_feature    574..1347
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P23771.1);
                     Region: Interaction with TBX21.
                     /evidence=ECO:0000250|UniProtKB:P23772"
     misc_feature    574..660
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P23771.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    916..918
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P23771.1); phosphorylation site"
     misc_feature    955..1113
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P23771.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1057..1059
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P23771.1); phosphorylation site"
     misc_feature    1153..1221
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P23771.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1438..1524
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P23771.1);
                     Region: Flexible linker"
     misc_feature    1606..1635
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P23771.1);
                     Region: YxKxHxxxRP. /evidence=ECO:0000250"
     misc_feature    1657..1743
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P23771.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1816..1905
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="propagated from UniProtKB/Swiss-Prot (P23771.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2750..2755
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="hexamer: AATAAA"
     regulatory      2760..2765
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="hexamer: ATTACA"
     polyA_site      2769
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="major polyA site"
     polyA_site      2779
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="major polyA site"
     regulatory      3058..3063
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
                     /note="hexamer: AATAAA"
     polyA_site      3083
                     /gene="GATA3"
                     /gene_synonym="HDR; HDRS"
ORIGIN
        1 gaacactgag ctgcctggcg ccgtcttgat actttcagaa agaatgcatt ccctgtaaaa
       61 aaaaaaaaaa aatactgaga gagggagaga gagagagaag aagagagaga gacggaggga
      121 gagcgagaca gagcgagcaa cgcaatctga ccgagcaggt cgtacgccgc cgcctcctcc
      181 tcctctctgc tcttcgctac ccaggtgacc cgaggaggga ctccgcctcc gagcggctga
      241 ggaccccggt gcagaggagc ctggctcgca gaattgcaga gtcgtcgccc ctttttacaa
      301 cctggtcccg ttttattctg ccgtacccag tttttggatt tttgtcttcc ccttcttctc
      361 tttgctaaac gacccctcca agataatttt taaaaaacct tctcctttgc tcacctttgc
      421 ttcccagcct tcccatcccc ccaccgaaag caaatcattc aacgaccccc gaccctccga
      481 cggcaggagc cccccgacct cccaggcgga ccgccctccc tccccgcgcg cgggttccgg
      541 gcccggcgag agggcgcgag cacagccgag gccatggagg tgacggcgga ccagccgcgc
      601 tgggtgagcc accaccaccc cgccgtgctc aacgggcagc acccggacac gcaccacccg
      661 ggcctcagcc actcctacat ggacgcggcg cagtacccgc tgccggagga ggtggatgtg
      721 ctttttaaca tcgacggtca aggcaaccac gtcccgccct actacggaaa ctcggtcagg
      781 gccacggtgc agaggtaccc tccgacccac cacgggagcc aggtgtgccg cccgcctctg
      841 cttcatggat ccctaccctg gctggacggc ggcaaagccc tgggcagcca ccacaccgcc
      901 tccccctgga atctcagccc cttctccaag acgtccatcc accacggctc cccggggccc
      961 ctctccgtct accccccggc ctcgtcctcc tccttgtcgg ggggccacgc cagcccgcac
     1021 ctcttcacct tcccgcccac cccgccgaag gacgtctccc cggacccatc gctgtccacc
     1081 ccaggctcgg ccggctcggc ccggcaggac gagaaagagt gcctcaagta ccaggtgccc
     1141 ctgcccgaca gcatgaagct ggagtcgtcc cactcccgtg gcagcatgac cgccctgggt
     1201 ggagcctcct cgtcgaccca ccaccccatc accacctacc cgccctacgt gcccgagtac
     1261 agctccggac tcttcccccc cagcagcctg ctgggcggct cccccaccgg cttcggatgc
     1321 aagtccaggc ccaaggcccg gtccagcaca gaaggcaggg agtgtgtgaa ctgtggggca
     1381 acctcgaccc cactgtggcg gcgagatggc acgggacact acctgtgcaa cgcctgcggg
     1441 ctctatcaca aaatgaacgg acagaaccgg cccctcatta agcccaagcg aaggctgtct
     1501 gcagccagga gagcagggac gtcctgtgcg aactgtcaga ccaccacaac cacactctgg
     1561 aggaggaatg ccaatgggga ccctgtctgc aatgcctgtg ggctctacta caagcttcac
     1621 aatattaaca gacccctgac tatgaagaag gaaggcatcc agaccagaaa ccgaaaaatg
     1681 tctagcaaat ccaaaaagtg caaaaaagtg catgactcac tggaggactt ccccaagaac
     1741 agctcgttta acccggccgc cctctccaga cacatgtcct ccctgagcca catctcgccc
     1801 ttcagccact ccagccacat gctgaccacg cccacgccga tgcacccgcc atccagcctg
     1861 tcctttggac cacaccaccc ctccagcatg gtcaccgcca tgggttagag ccctgctcga
     1921 tgctcacagg gcccccagcg agagtccctg cagtcccttt cgacttgcat ttttgcagga
     1981 gcagtatcat gaagcctaaa cgcgatggat atatgttttt gaaggcagaa agcaaaatta
     2041 tgtttgccac tttgcaaagg agctcactgt ggtgtctgtg ttccaaccac tgaatctgga
     2101 ccccatctgt gaataagcca ttctgactca tatcccctat ttaacagggt ctctagtgct
     2161 gtgaaaaaaa aaatgctgaa cattgcatat aacttatatt gtaagaaata ctgtacaatg
     2221 actttattgc atctgggtag ctgtaaggca tgaaggatgc caagaagttt aaggaatatg
     2281 ggagaaatag tgtggaaatt aagaagaaac taggtctgat attcaaatgg acaaactgcc
     2341 agttttgttt cctttcactg gccacagttg tttgatgcat taaaagaaaa taaaaaaaag
     2401 aaaaaagaga aaagaaaaaa aaagaaaaaa gttgtaggcg aatcatttgt tcaaagctgt
     2461 tggcctctgc aaaggaaata ccagttctgg gcaatcagtg ttaccgttca ccagttgccg
     2521 ttgagggttt cagagagcct ttttctaggc ctacatgctt tgtgaacaag tccctgtaat
     2581 tgttgtttgt atgtataatt caaagcacca aaataagaaa agatgtagat ttatttcatc
     2641 atattataca gaccgaactg ttgtataaat ttatttactg ctagtcttaa gaactgcttt
     2701 ctttcgtttg tttgtttcaa tattttcctt ctctctcaat ttttggttga ataaactaga
     2761 ttacattcag ttggcctaag gtggttgtgc tcggagggtt tcttgtttct tttccatttt
     2821 gtttttggat gatatttatt aaatagcttc taagagtccg gcggcatctg tcttgtccct
     2881 attcctgcag cctgtgctga gggtagcagt gtatgagcta ccagcgtgca tgtcagcgac
     2941 cctggcccga caggccacgt cctgcaatcg gcccggctgc ctcttcgccc tgtcgtgttc
     3001 tgtgttagtg atcactgcct ttaatacagt ctgttggaat aatattataa gcataataat
     3061 aaagtgaaaa tattttaaaa cta
//
LOCUS       NM_001002296            2099 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens golgin A7 (GOLGA7), transcript variant 2, mRNA.
ACCESSION   NM_001002296
VERSION     NM_001002296.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2099)
  AUTHORS   Zeng XT, Yu XX and Cheng W.
  TITLE     The interactions of ZDHHC5/GOLGA7 with SARS-CoV-2 spike (S) protein
            and their effects on S protein's subcellular localization,
            palmitoylation and pseudovirus entry
  JOURNAL   Virol J 18 (1), 257 (2021)
   PUBMED   34961524
  REMARK    GeneRIF: The interactions of ZDHHC5/GOLGA7 with SARS-CoV-2 spike (S)
            protein and their effects on S protein's subcellular localization,
            palmitoylation and pseudovirus entry. Erratum:[Virol J. 2022 Feb
            3;19(1):25. PMID: 35115020] Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2099)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2099)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2099)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human genetic
            disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   5  (bases 1 to 2099)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction Assessment
            with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   6  (bases 1 to 2099)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2099)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   8  (bases 1 to 2099)
  AUTHORS   Swarthout JT, Lobo S, Farh L, Croke MR, Greentree WK, Deschenes RJ
            and Linder ME.
  TITLE     DHHC9 and GCP16 constitute a human protein fatty acyltransferase
            with specificity for H- and N-Ras
  JOURNAL   J Biol Chem 280 (35), 31141-31148 (2005)
   PUBMED   16000296
  REMARK    GeneRIF: Data show that H- and N-Ras are palmitoylated by a human
            protein palmitoyltransferase encoded by the ZDHHC9 and GCP16 genes.
REFERENCE   9  (bases 1 to 2099)
  AUTHORS   Ohta E, Misumi Y, Sohda M, Fujiwara T, Yano A and Ikehara Y.
  TITLE     Identification and characterization of GCP16, a novel acylated Golgi
            protein that interacts with GCP170
  JOURNAL   J Biol Chem 278 (51), 51957-51967 (2003)
   PUBMED   14522980
  REMARK    GeneRIF: results indicate that GCP16 is the acylated membrane
            protein, associated with GCP170, and possibly involved in vesicular
            transport from the Golgi to the cell surface
REFERENCE   10  (bases 1 to 2099)
  AUTHORS   Jia L, Young MF, Powell J, Yang L, Ho NC, Hotchkiss R, Robey PG and
            Francomano CA.
  TITLE     Gene expression profile of human bone marrow stromal cells:
            high-throughput expressed sequence tag sequencing analysis
  JOURNAL   Genomics 79 (1), 7-17 (2002)
   PUBMED   11827452
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1134319.1,
            SRR3476690.394859.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000357743.9/ ENSP00000350378.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009630.14, BC012032.1, BC001227.2, AF068291.1, AV650886.1,
            AF125102.1 and BG939345.1.
            On May 17, 2019 this sequence version replaced NM_001002296.1.
            Transcript Variant: This variant (2) represents the longest
            transcript and encodes the longer isoform (a). Variants 1, 2, 4 and
            5 encode the same isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2099
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.21"
     gene            1..2099
                     /gene="GOLGA7"
                     /gene_synonym="GCP16; GOLGA3AP1; GOLGA7A; HSPC041"
                     /note="golgin A7"
                     /db_xref="GeneID:51125"
                     /db_xref="HGNC:HGNC:24876"
                     /db_xref="MIM:609453"
     CDS             274..687
                     /gene="GOLGA7"
                     /gene_synonym="GCP16; GOLGA3AP1; GOLGA7A; HSPC041"
                     /note="isoform a is encoded by transcript variant 2; Golgi
                     complex-associated protein of 16kDa; golgi autoantigen,
                     golgin subfamily a, 7; golgin subfamily A member 7; golgi
                     complex-associated protein of 16 kDa"
                     /codon_start=1
                     /product="golgin subfamily A member 7 isoform a"
                     /protein_id="NP_001002296.1"
                     /db_xref="CCDS:CCDS34887.1"
                     /db_xref="GeneID:51125"
                     /db_xref="HGNC:HGNC:24876"
                     /db_xref="MIM:609453"
                     /translation="MRPQQAPVSGKVFIQRDYSSGTRCQFQTKFPAELENRIDRQQFEE
                     TVRTLNNLYAEAEKLGGQSYLEGCLACLTAYTIFLCMETHYEKVLKKVSKYIQEQNEKI
                     YAPQGLLLTDPIERGLRVIEITIYEDRGMSSGR"
     regulatory      2079..2084
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GOLGA7"
                     /gene_synonym="GCP16; GOLGA3AP1; GOLGA7A; HSPC041"
                     /note="hexamer: AATAAA"
     polyA_site      2099
                     /gene="GOLGA7"
                     /gene_synonym="GCP16; GOLGA3AP1; GOLGA7A; HSPC041"
                     /note="major polyA site"
ORIGIN
        1 ggcggtgcga cagcagctgg agggcagagg aggcgggttt gtgtttcccg ggccgaaccg
       61 ggttgtgggg ggcgcggggc ctgggccagg cggcagctaa ggcccgcggt gacagcatgg
      121 gtgaagggga gcggggcaga ggaggccttg ggctgttttc ggcggcgggt gggggcgagg
      181 ggctggcggg tcagagtccc gggtccaggc cggggctctg actcgcggtt ggtgttcccc
      241 cgaccccgca gcgcggggtg tcctgtcctc gccatgaggc cgcagcaggc gccggtgtcc
      301 ggaaaggtgt tcattcagcg agactacagc agtggcacac gctgccagtt ccagaccaag
      361 ttccctgcgg agctggagaa ccggattgat aggcagcagt ttgaagaaac agttcgaact
      421 ctaaataacc tttatgcaga agcagagaag ctcggcggcc agtcatatct cgaaggttgt
      481 ttggcttgtt taacagcata taccatcttc ctatgcatgg aaactcatta tgagaaggtt
      541 ctgaagaaag tctccaaata cattcaagag cagaatgaga agatctatgc tccacaaggc
      601 ctcctcctga cagaccctat tgagcgagga ctgcgagtta ttgaaattac catttatgaa
      661 gacagaggca tgagcagtgg aagataaacc gaagaattaa agatcccact tccagccggg
      721 cccctcatgt atccactggc cgaccgcaga gtgtccctac ctcctctcca gagcatcatt
      781 cctttctatc tgctgccaga gccacggtgc catttactcc aaggactcac tttctaaaat
      841 tccacacctg gagtgacctc tagtcgctca gcatccactt tgtgtctcca aattgtgtag
      901 gactctgtaa tcttttgatt agtttctgag aaaacacaat gaagcacttc actttttttt
      961 attcaaagcc atttaataaa acacagttgg tcagcccagt gcaaagcttg ttatctgcca
     1021 ccagtacata ccattggttc tcttcattcc ttgggccagc ttctcaggtg gctttagacc
     1081 tcaacaagcc gtatcttcac cagtgttcta tcttgttccc ctaaattaat aaaatgtttt
     1141 tctccaggat tttggtgagg gttggctgtg gctgtcgttt tgcacctccc agatttcaaa
     1201 gaattactgg ttttaccatg actcaaatct taagatctgt ttctactatt cagttcctca
     1261 aactgaagct tattgaaaaa aaaatgtata atgttatttg ttttattata gcaattatgc
     1321 ctaattaaag cagtatttaa tgcaatttcc agttatttct ttggagaatt ttatgtcatt
     1381 gttccattac cttgaatgtt ggaaagatat gatacgtgct gcttgttcat cacaaaaatc
     1441 agtaagcaca ataaagtgga tgccaaacca tcagacacat aaatgttccc gctgtgtccc
     1501 tggatatgga ataagcaggt ataaaaaata ttttaattat agttttgtta taaatataac
     1561 ttatgagaaa aaaatttgat aggaataata ctgtatatta ctaattttta actatcccta
     1621 aggcaaacct tatgacccac agaattttct catatacagt attcagtgca cagaaatctt
     1681 atgattggct caagtacagt aagttacttc tcagtaaaac tctcaagtct gagtccatat
     1741 ttgtagctct gcttttggct gtacgttcct aggatcgggg ctgcttatgc ctttcgttta
     1801 tccttggggt ttgagagcgc tgtatttggg agagagttta aaaatacatt aggagagaga
     1861 aaccattaaa agtttcactg tcagatatat tgtaggtgct aatactggat ttcgtctcag
     1921 atttaatttc ttttatgggt ctgttagtca ttcaacaaat cccataagta tgtgttaata
     1981 ttttaattgt gtaaaactca tttgttactt tacagcctgt aatagtgtgt ctgcattttc
     2041 aacctgttgc aataactttg ctgaaatatt aacacattaa taaaactttt cttaaacaa
//
LOCUS       NM_001002755             898 bp    mRNA    linear   PRI 20-SEP-2023
DEFINITION  Homo sapiens NFU1 iron-sulfur cluster scaffold (NFU1), transcript
            variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001002755
VERSION     NM_001002755.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 898)
  AUTHORS   Da Vela S, Saudino G, Lucarelli F, Banci L, Svergun DI and
            Ciofi-Baffoni S.
  TITLE     Structural Plasticity of NFU1 Upon Interaction with Binding
            Partners: Insights into the Mitochondrial [4Fe-4S] Cluster Pathway
  JOURNAL   J Mol Biol 435 (15), 168154 (2023)
   PUBMED   37211204
  REMARK    GeneRIF: Structural Plasticity of NFU1 Upon Interaction with Binding
            Partners: Insights into the Mitochondrial [4Fe-4S] Cluster Pathway.
REFERENCE   2  (bases 1 to 898)
  AUTHORS   Kropp PA, Rogers P, Kelly SE, McWhirter R, Goff WD, Levitan IM,
            Miller DM and Golden A.
  TITLE     Patient-specific variants of NFU1/NFU-1 disrupt cholinergic
            signaling in a model of multiple mitochondrial dysfunctions syndrome
            1
  JOURNAL   Dis Model Mech 16 (2) (2023)
   PUBMED   36645076
  REMARK    GeneRIF: Patient-specific variants of NFU1/NFU-1 disrupt cholinergic
            signaling in a model of multiple mitochondrial dysfunctions syndrome
            1.
REFERENCE   3  (bases 1 to 898)
  AUTHORS   Kaiyrzhanov R, Zaki MS, Lau T, Sen S, Azizimalamiri R, Zamani M,
            Sayin GY, Hilander T, Efthymiou S, Chelban V, Brown R, Thompson K,
            Scarano MI, Ganesh J, Koneev K, Gulacar IM, Person R, Sadykova D,
            Maidyrov Y, Seifi T, Zadagali A, Bernard G, Allis K, Elloumi HZ,
            Lindy A, Taghiabadi E, Verma S, Logan R, Kirmse B, Bai R, Khalaf SM,
            Abdel-Hamid MS, Sedaghat A, Shariati G, Issa M, Zeighami J,
            Elbendary HM, Brown G, Taylor RW, Galehdari H, Gleeson JJ, Carroll
            CJ, Cowan JA, Moreno-De-Luca A, Houlden H and Maroofian R.
  TITLE     Phenotypic continuum of NFU1-related disorders
  JOURNAL   Ann Clin Transl Neurol 9 (12), 2025-2035 (2022)
   PUBMED   36256512
  REMARK    GeneRIF: Phenotypic continuum of NFU1-related disorders.
REFERENCE   4  (bases 1 to 898)
  AUTHORS   Suraci D, Saudino G, Nasta V, Ciofi-Baffoni S and Banci L.
  TITLE     ISCA1 Orchestrates ISCA2 and NFU1 in the Maturation of Human
            Mitochondrial [4Fe-4S] Proteins
  JOURNAL   J Mol Biol 433 (10), 166924 (2021)
   PUBMED   33711344
  REMARK    GeneRIF: ISCA1 Orchestrates ISCA2 and NFU1 in the Maturation of
            Human Mitochondrial [4Fe-4S] Proteins.
REFERENCE   5  (bases 1 to 898)
  AUTHORS   Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del
            Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B,
            Ugarte M, Gutierrez-Solana LG, Campistol J, Garcia-Cazorla A,
            Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A and Lill R.
  TITLE     A fatal mitochondrial disease is associated with defective NFU1
            function in the maturation of a subset of mitochondrial Fe-S
            proteins
  JOURNAL   Am J Hum Genet 89 (5), 656-667 (2011)
   PUBMED   22077971
  REMARK    GeneRIF: A fatal mitochondrial disease is associated with defective
            NFU1 function in the maturation of a subset of mitochondrial Fe-S
            proteins
REFERENCE   6  (bases 1 to 898)
  AUTHORS   Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH,
            Ogilvie I, Shoubridge EA and Robinson BH.
  TITLE     Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause
            a fatal deficiency of multiple respiratory chain and 2-oxoacid
            dehydrogenase enzymes
  JOURNAL   Am J Hum Genet 89 (4), 486-495 (2011)
   PUBMED   21944046
  REMARK    GeneRIF: Mutations in iron-sulfur cluster scaffold genes NFU1 and
            BOLA3 cause a fatal deficiency of multiple respiratory chain and
            2-oxoacid dehydrogenase enzymes [case report]
REFERENCE   7  (bases 1 to 898)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   8  (bases 1 to 898)
  AUTHORS   Ganesh S, Tsurutani N, Suzuki T, Ueda K, Agarwala KL, Osada H,
            Delgado-Escueta AV and Yamakawa K.
  TITLE     The Lafora disease gene product laforin interacts with HIRIP5, a
            phylogenetically conserved protein containing a NifU-like domain
  JOURNAL   Hum Mol Genet 12 (18), 2359-2368 (2003)
   PUBMED   12915448
  REMARK    GeneRIF: Laforin interacts with HIRIP5.
REFERENCE   9  (bases 1 to 898)
  AUTHORS   Tong WH, Jameson GN, Huynh BH and Rouault TA.
  TITLE     Subcellular compartmentalization of human Nfu, an iron-sulfur
            cluster scaffold protein, and its ability to assemble a [4Fe-4S]
            cluster
  JOURNAL   Proc Natl Acad Sci U S A 100 (17), 9762-9767 (2003)
   PUBMED   12886008
  REMARK    GeneRIF: Analyses of genomic DNA, transcripts, and translation
            products indicate that alternative splicing of a common pre-mRNA
            results in synthesis of two Nfu isoforms with distinct subcellular
            localizations.
REFERENCE   10  (bases 1 to 898)
  AUTHORS   Lorain S, Lecluse Y, Scamps C, Mattei MG and Lipinski M.
  TITLE     Identification of human and mouse HIRA-interacting protein-5
            (HIRIP5), two mammalian representatives in a family of
            phylogenetically conserved proteins with a role in the biogenesis of
            Fe/S proteins
  JOURNAL   Biochim Biophys Acta 1517 (3), 376-383 (2001)
   PUBMED   11342215
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX441422.2, AK300700.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2145544 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000410022.7/ ENSP00000387219.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC113692.1 and AI129426.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 18, 2019 this sequence version replaced NM_001002755.3.
            Summary: This gene encodes a protein that is localized to
            mitochondria and plays a critical role in iron-sulfur cluster
            biogenesis. The encoded protein assembles and transfers 4Fe-4S
            clusters to target apoproteins including succinate dehydrogenase
            and lipoic acid synthase. Mutations in this gene are a cause of
            multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of
            this gene are located on the short arms of chromosomes 1 and 3.
            Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, Dec
            2011].
            Transcript Variant: This variant (2) differs in the 5' UTR and uses
            an upstream, in-frame start codon, compared to variant 1. The
            encoded isoform (2) has a longer N-terminus, compared to isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..898
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     gene            1..898
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC"
                     /note="NFU1 iron-sulfur cluster scaffold"
                     /db_xref="GeneID:27247"
                     /db_xref="HGNC:HGNC:16287"
                     /db_xref="MIM:608100"
     CDS             14..778
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC"
                     /note="isoform 2 is encoded by transcript variant 2;
                     HIRA-interacting protein 5; NifU-like C-terminal domain
                     containing; NFU1 iron-sulfur cluster scaffold homolog,
                     mitochondrial; iron-sulfur cluster scaffold protein"
                     /codon_start=1
                     /product="NFU1 iron-sulfur cluster scaffold homolog,
                     mitochondrial isoform 2"
                     /protein_id="NP_001002755.1"
                     /db_xref="CCDS:CCDS33217.1"
                     /db_xref="GeneID:27247"
                     /db_xref="HGNC:HGNC:16287"
                     /db_xref="MIM:608100"
                     /translation="MAATARRGWGAAAVAAGLRRRFCHMLKNPYTIKKQPLHQFVQRPL
                     FPLPAAFYHPVRYMFIQTQDTPNPNSLKFIPGKPVLETRTMDFPTPAAAFRSPLARQLF
                     RIEGVKSVFFGPDFITVTKENEELDWNLLKPDIYATIMDFFASGLPLVTEETPSGEAGS
                     EEDDEVVAMIKELLDTRIRPTVQEDGGDVIYKGFEDGIVQLKLQGSCTSCPSSIITLKN
                     GIQNMLQFYIPEVEGVEQVMDDESDEKEANSP"
     transit_peptide 14..40
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC"
                     /note="Mitochondrion. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (Q9UMS0.2)"
     mat_peptide     41..775
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC"
                     /product="NFU1 iron-sulfur cluster scaffold homolog,
                     mitochondrial. /id=PRO_0000166191"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMS0.2)"
     misc_feature    530..736
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMS0.2);
                     Region: NifU"
     regulatory      871..876
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC"
                     /note="hexamer: AATAAA"
     polyA_site      898
                     /gene="NFU1"
                     /gene_synonym="CGI-33; HIRIP; HIRIP5; MMDFS; MMDS1; Nfu;
                     NifU; NIFUC"
                     /note="major polyA site"
ORIGIN
        1 actccggact aagatggcgg cgacggccag gcggggctgg ggagctgcgg ctgttgccgc
       61 cgggctgcgc aggcggttct gtcatatgtt gaagaatcca tacaccatta agaaacagcc
      121 tctgcatcag tttgtacaaa gaccactttt cccactacct gcagcctttt atcacccagt
      181 gagatacatg tttattcaaa cacaagatac cccaaatcca aacagcttaa agtttatacc
      241 aggaaaacca gttcttgaga caaggaccat ggattttccc accccagctg cagcatttcg
      301 ctcccctctg gctaggcagt tatttaggat tgaaggagta aaaagtgtct tctttggacc
      361 agatttcatc actgtcacaa aggaaaatga agaattagac tggaatttac tgaaaccaga
      421 tatttatgca acaatcatgg acttctttgc atctggctta cccctggtta ctgaggaaac
      481 accttcagga gaagcaggat ctgaagaaga tgatgaagtt gtggcaatga ttaaggaatt
      541 gttagatact agaatacggc caactgtgca ggaagatgga ggggatgtaa tctacaaagg
      601 ctttgaagat ggcattgtac agctgaaact ccagggttct tgtaccagct gccctagttc
      661 aatcattact ctgaaaaatg gaattcagaa catgctgcag ttttatattc cggaggtaga
      721 aggcgtagaa caggttatgg atgatgaatc agatgaaaaa gaagcaaact caccttaaaa
      781 taatctggat tttctttggg cataacagtc agacttgttg ataatatata tcaagttttt
      841 attattaata tgctgaggaa cttgaagatt aataaaatat gctcttcaga gaatgata
//
LOCUS       NM_001002758            1238 bp    mRNA    linear   PRI 13-FEB-2021
DEFINITION  Homo sapiens PTPN13 like Y-linked 2 (PRY2), mRNA.
ACCESSION   NM_001002758
VERSION     NM_001002758.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1238)
  AUTHORS   Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD,
            Gianotten J, Oates RD, Silber S, van der Veen F, Page DC and Rozen
            S.
  TITLE     A family of human Y chromosomes has dispersed throughout northern
            Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region
  JOURNAL   Genomics 83 (6), 1046-1052 (2004)
   PUBMED   15177557
REFERENCE   2  (bases 1 to 1238)
  AUTHORS   Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
            Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A,
            Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R,
            Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R,
            McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S,
            Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP,
            Waterston RH, Wilson RK, Rozen S and Page DC.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
REFERENCE   3  (bases 1 to 1238)
  AUTHORS   Lahn BT and Page DC.
  TITLE     Functional coherence of the human Y chromosome
  JOURNAL   Science 278 (5338), 675-680 (1997)
   PUBMED   9381176
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2148874,
            SAMEA2158188 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000303804.5/ ENSP00000303300.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007359.3.
            This sequence is a reference standard in the RefSeqGene project.
            Summary: This gene is located in the nonrecombining portion of the
            Y chromosome, and expressed specifically in testis. It encodes a
            protein which has a low degree of similarity to protein tyrosine
            phosphatase, non-receptor type 13. Two nearly identical copies of
            this gene exist within a palindromic region. This record represents
            the more centromeric copy. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1238
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.223"
     gene            1..1238
                     /gene="PRY2"
                     /gene_synonym="PTPN13LY2"
                     /note="PTPN13 like Y-linked 2"
                     /db_xref="GeneID:442862"
                     /db_xref="HGNC:HGNC:21504"
                     /db_xref="MIM:400041"
     misc_feature    183..185
                     /gene="PRY2"
                     /gene_synonym="PTPN13LY2"
                     /note="upstream in-frame stop codon"
     CDS             228..671
                     /gene="PRY2"
                     /gene_synonym="PTPN13LY2"
                     /note="PTPN13-like, Y-linked, centromeric; testis-specific
                     PTP-BL-related protein on Y; testis-specific PTP-BL-related
                     Y protein"
                     /codon_start=1
                     /product="PTPN13-like protein, Y-linked"
                     /protein_id="NP_001002758.1"
                     /db_xref="CCDS:CCDS35482.1"
                     /db_xref="GeneID:442862"
                     /db_xref="HGNC:HGNC:21504"
                     /db_xref="MIM:400041"
                     /translation="MGATGLGFLLSWRQDNLNGTDCQGCNILYFSETTGSMCSELSLNR
                     GLEARRKKDLKDSFLWRYGKVGCISLPLREMTAWINPPQISEIFQGYHQRVHGADALSL
                     QTNSLRSRLSSQCLGQSFLLRTLERGRGFRALGDICGHVHEED"
ORIGIN
        1 aagaagagga gcacaccaca ccagaaacag acatcttgca gtgtttcact gtctcaacct
       61 tatctgcaca gtccgaggtc agtctgagag agcttctgag agacccagga tgaagggatg
      121 cagtgaggtc aagagcccaa ccttctttca ctgacaccca cctctaagga ctcagagaga
      181 catgaataaa atgggcctca acaatcccaa gagaccactc aaggacaatg ggagccactg
      241 ggcttggctt tctactttcc tggagacaag acaatttgaa tggcactgac tgccagggat
      301 gcaatatttt atacttctct gagactacgg ggagcatgtg ttctgaactt tccttgaaca
      361 gaggtcttga ggccagaagg aagaaggatc ttaaagactc atttctctgg agatatggga
      421 aggttggctg tatctcactt ccacttcgtg agatgaccgc ctggattaac ccaccccaaa
      481 tttcagagat tttccaaggc taccaccaga gggtgcacgg agctgatgca ctgagcctgc
      541 aaaccaactc tctgagaagc aggttatctt cacagtgcct cggacagagc ttccttctca
      601 ggacactcga gagaggccgt ggtttcaggg cacttgggga catctgtggc cacgttcatg
      661 aagaagacta agcctacttc atctcaggac ccgcccaaga gtggccgcgg ctttgggaca
      721 cctggggtcg ggtccaccat gaggataaaa cctccttctc ttctggacat gtccaggagt
      781 ggccgttgct acaagtcacc tggtgctacg accagggtga gaataaagac gtctcctcag
      841 gaccctccca ggagagtaca tggcattgag acatctggcg gccaagtgag gaaaagacac
      901 cctgtctgca gcacccagaa ctgaggaggg gcactgccct gggccttact tcccagccct
      961 ggcctccaat tctgacctta caaaagtgtc ccttgagtga ggcagtgacc acgcattgtc
     1021 acagctacca aagtgtggtt tgcagatgat ctgggcttgt ttctggcaga gattctggta
     1081 cagagaaagg agaggcgctg agtggaacca cgatgggctg aggccagggg agacatcgca
     1141 acctccaaca acactttttt tcatgcttta ataactcatt tttcttagag aactaaagta
     1201 gttgaaacaa tatagaaaca ttttttaagt aggcatat
//
LOCUS       NM_001002759            1430 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens SWI5 dependent homologous recombination repair protein
            1 (SFR1), transcript variant 1, mRNA.
ACCESSION   NM_001002759
VERSION     NM_001002759.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1430)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1430)
  AUTHORS   Feng Y, Singleton D, Guo C, Gardner A, Pakala S, Kumar R, Jensen E,
            Zhang J and Khan S.
  TITLE     DNA homologous recombination factor SFR1 physically and functionally
            interacts with estrogen receptor alpha
  JOURNAL   PLoS One 8 (7), e68075 (2013)
   PUBMED   23874500
  REMARK    GeneRIF: SFR1 is a novel transcriptional modulator for ERalpha and a
            potential target in breast cancer therapy. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1430)
  AUTHORS   Zhao L, Bracken MB and DeWan AT.
  TITLE     Genome-wide association study of pre-eclampsia detects novel
            maternal single nucleotide polymorphisms and copy-number variants in
            subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO)
            study cohort
  JOURNAL   Ann Hum Genet 77 (4), 277-287 (2013)
   PUBMED   23551011
REFERENCE   4  (bases 1 to 1430)
  AUTHORS   Qing Y, Yamazoe M, Hirota K, Dejsuphong D, Sakai W, Yamamoto KN,
            Bishop DK, Wu X and Takeda S.
  TITLE     The epistatic relationship between BRCA2 and the other RAD51
            mediators in homologous recombination
  JOURNAL   PLoS Genet 7 (7), e1002148 (2011)
   PUBMED   21779174
REFERENCE   5  (bases 1 to 1430)
  AUTHORS   Yuan J and Chen J.
  TITLE     The role of the human SWI5-MEI5 complex in homologous recombination
            repair
  JOURNAL   J Biol Chem 286 (11), 9888-9893 (2011)
   PUBMED   21252223
  REMARK    GeneRIF: that human SWI5-MEI5 has an evolutionarily conserved
            function in homologous recombination repair.
REFERENCE   6  (bases 1 to 1430)
  AUTHORS   Akamatsu Y and Jasin M.
  TITLE     Role for the mammalian Swi5-Sfr1 complex in DNA strand break repair
            through homologous recombination
  JOURNAL   PLoS Genet 6 (10), e1001160 (2010)
   PUBMED   20976249
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1430)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS,
            Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer
            N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White
            TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC,
            Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1430)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage
            AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G,
            Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T,
            Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S,
            Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T,
            Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N,
            Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall
            M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL,
            Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm
            L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   9  (bases 1 to 1430)
  AUTHORS   Gubin AN, Njoroge JM, Bouffard GG and Miller JL.
  TITLE     Gene expression in proliferating human erythroid cells
  JOURNAL   Genomics 59 (2), 168-177 (1999)
   PUBMED   10409428
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.233097.1, BG428883.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369727.4/ ENSP00000358742.3
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL357336.11.
            On Jun 26, 2020 this sequence version replaced NM_001002759.1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1430
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.1"
     gene            1..1430
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /note="SWI5 dependent homologous recombination repair
                     protein 1"
                     /db_xref="GeneID:119392"
                     /db_xref="HGNC:HGNC:29574"
                     /db_xref="MIM:616527"
     CDS             14..751
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /note="isoform a is encoded by transcript variant 1;
                     swi5-dependent recombination DNA repair protein 1 homolog;
                     meiosis protein 5 homolog; SWI5-dependent recombination
                     repair protein 1; MEI5 recombination repair protein
                     homolog; SWI5-dependent recombination repair 1"
                     /codon_start=1
                     /product="swi5-dependent recombination DNA repair protein 1
                     homolog isoform a"
                     /protein_id="NP_001002759.1"
                     /db_xref="CCDS:CCDS31279.1"
                     /db_xref="GeneID:119392"
                     /db_xref="HGNC:HGNC:29574"
                     /db_xref="MIM:616527"
                     /translation="MAEGEKNQDFTFKMESPSDSAVVLPSTPQASANPSSPYTNSSRKQ
                     PMSATLRERLRKTRFSFNSSYNVVKRLKVESEENDQTFSEKPASSTEENCLEFQESFKH
                     IDSEFEENTNLKNTLKNLNVCESQSLDSGSCSALQNEFVSEKLPKQRLNAEKAKLVKQV
                     QEKEDLLRRLKLVKMYRSKNDLSQLQLLIKKWRSCSQLLLYELQSAVSEENKKLSLTQL
                     IDHYGLDDKLLHYNRSEEEFIDV"
     misc_feature    14..175
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86XK3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    14..16
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q86XK3.2); acetylation site"
     misc_feature    194..196
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86XK3.2); phosphorylation site"
     misc_feature    203..205
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BP27; propagated from
                     UniProtKB/Swiss-Prot (Q86XK3.2); phosphorylation site"
     regulatory      1407..1412
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /note="hexamer: ATTAAA"
     polyA_site      1430
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /note="major polyA site"
ORIGIN
        1 gctctcgctg ggaatggcgg agggagagaa aaaccaagat ttcactttca agatggaaag
       61 tccgtcagac tcagctgtgg ttttacctag cactcctcag gcctctgcga atccatcatc
      121 tccctataca aatagttccc gaaaacaacc tatgagtgca acacttagag aaagattaag
      181 gaaaacaaga ttttcattta attcctctta caatgtggtg aaacgtctta aagtagagag
      241 tgaagaaaat gatcagacct tttcagagaa accagcatct tccacagagg aaaactgttt
      301 ggaatttcaa gaaagtttta aacatataga cagtgaattt gaagaaaata caaatttgaa
      361 aaatactttg aagaatctca atgtctgtga atctcagtca cttgattctg gatcatgcag
      421 tgctctccaa aatgagtttg tgagtgagaa gcttcctaaa caaagattaa acgctgaaaa
      481 agccaaattg gtgaagcagg ttcaggagaa agaagacctt cttcggaggc taaaactagt
      541 caaaatgtat agatcaaaga atgatctgtc tcagttacag ttgttaataa agaagtggag
      601 aagctgtagc cagctcttgc tttatgagtt gcagtcagct gtgtctgaag agaacaagaa
      661 actaagcctt actcaattga tagaccacta tgggttagat gataaattac tacactataa
      721 cagaagtgaa gaagaattta tagatgttta attcctgatt tttgctccag aatatctttg
      781 agaatgacaa cttaattaaa agatacttag gcactttttt tttttttttg agactgagtt
      841 tcgctcttgt catcctggct ggagtgtgat ggtgcgatct tgactcactg caacctctgc
      901 ctctcgggtt ccagcaattc tcctgcctca gcctcccgag tagctgagat tacaggcgcc
      961 cgccaccatg cccggctaat ttttgcattt ttagtagaga ctgggtttca ccacgttggc
     1021 caggctggtc tcgaactcct gacctcaggt gatccaccgc ctaggcctcc caaaaccatt
     1081 agggctcaga ggaaggtatc ccaatgaata tcaattaagg gcactttaat atataaatta
     1141 taaactaagt tctaaaagga aaattagtat tttggataga tttgtcaaaa cgacatttaa
     1201 gtcatgttta aaaagtcatt tgggcagttc tggaaactag ttttaataca tttgtttttt
     1261 atgacaaaaa gttttatttt aaatgttaaa aattgtccaa tctggtgaat gtctaaccct
     1321 aaagtttaaa aatttctgcc tcctaagttt atgtaccttg tttccatcca tttaccacat
     1381 atttccatct gatagtctag caggtaatta aacttatatg tccaaaacca
//
LOCUS       NM_001002760            1206 bp    mRNA    linear   PRI 27-JUL-2023
DEFINITION  Homo sapiens basic charge Y-linked 2B (BPY2B), mRNA.
ACCESSION   NM_001002760
VERSION     NM_001002760.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1206)
  AUTHORS   Chen S, Zhang Q, Chu L, Chang C, Chen Y, Bao Z, Peng W, Zhang L, Li
            S, Liu C, Zhu H, Yu F, Chen X, Jiang L, Lu D, Jiang Z, Jin L and Xu
            C.
  TITLE     Comprehensive copy number analysis of Y chromosome-linked loci for
            detection of structural variations and diagnosis of male infertility
  JOURNAL   J Hum Genet 67 (2), 107-114 (2022)
   PUBMED   34462535
REFERENCE   2  (bases 1 to 1206)
  AUTHORS   Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD,
            Gianotten J, Oates RD, Silber S, van der Veen F, Page DC and Rozen
            S.
  TITLE     A family of human Y chromosomes has dispersed throughout northern
            Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region
  JOURNAL   Genomics 83 (6), 1046-1052 (2004)
   PUBMED   15177557
REFERENCE   3  (bases 1 to 1206)
  AUTHORS   Wong EY, Tse JY, Yao KM, Lui VC, Tam PC and Yeung WS.
  TITLE     Identification and characterization of human VCY2-interacting
            protein: VCY2IP-1, a microtubule-associated protein-like protein
  JOURNAL   Biol Reprod 70 (3), 775-784 (2004)
   PUBMED   14627543
REFERENCE   4  (bases 1 to 1206)
  AUTHORS   Tse JY, Wong EY, Cheung AN, O WS, Tam PC and Yeung WS.
  TITLE     Specific expression of VCY2 in human male germ cells and its
            involvement in the pathogenesis of male infertility
  JOURNAL   Biol Reprod 69 (3), 746-751 (2003)
   PUBMED   12724276
  REMARK    GeneRIF: VCY2 was weakly expressed at the spermatogonia and
            immunonegative in spermatocytes and round spermatids in testicular
            biopsy specimens with maturation arrest or hypospermatogenesis.
REFERENCE   5  (bases 1 to 1206)
  AUTHORS   Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
            Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A,
            Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R,
            Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R,
            McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S,
            Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP,
            Waterston RH, Wilson RK, Rozen S and Page DC.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
REFERENCE   6  (bases 1 to 1206)
  AUTHORS   Wong EY, Tse JY, Yao KM, Tam PC and Yeung WS.
  TITLE     VCY2 protein interacts with the HECT domain of ubiquitin-protein
            ligase E3A
  JOURNAL   Biochem Biophys Res Commun 296 (5), 1104-1111 (2002)
   PUBMED   12207887
  REMARK    GeneRIF: VCY2 protein interacts with the HECT domain of
            ubiquitin-protein ligase E3A
REFERENCE   7  (bases 1 to 1206)
  AUTHORS   Lahn BT and Page DC.
  TITLE     Functional coherence of the human Y chromosome
  JOURNAL   Science 278 (5338), 675-680 (1997)
   PUBMED   9381176
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382392.5/ ENSP00000371829.1
            NMD candidate          :: translation inferred from conservation
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010153.3.
            Summary: This gene is located in the nonrecombining portion of the
            Y chromosome, and expressed specifically in testis. The encoded
            protein interacts with ubiquitin protein ligase E3A and may be
            involved in male germ cell development and male infertility. Three
            nearly identical copies of this gene exist on chromosome Y; two
            copies are part of a palindromic region. This record represents the
            more centromeric copy within the palindrome. [provided by RefSeq,
            Jul 2008].
            CCDS Note: This CCDS ID represents the protein described in PMIDs:
            12724276 and 12207887. It should be noted this transcript is
            predicted to undergo nonsense-mediated mRNA decay (NMD). However,
            the protein is represented because it was detected endogenously in
            PMID: 12724276. Three nearly identical copies of this gene exist on
            chromosome Y; two copies are part of a palindromic region. This
            record represents the more centromeric copy within the palindrome.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1206
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.23"
     gene            1..1206
                     /gene="BPY2B"
                     /gene_synonym="VCY2B"
                     /note="basic charge Y-linked 2B"
                     /db_xref="GeneID:442867"
                     /db_xref="HGNC:HGNC:25449"
     misc_feature    312..314
                     /gene="BPY2B"
                     /gene_synonym="VCY2B"
                     /note="upstream in-frame stop codon"
     CDS             333..653
                     /gene="BPY2B"
                     /gene_synonym="VCY2B"
                     /note="basic protein on Y chromosome 2; variable charge,
                     Y-linked, 2; basic charge, Y-linked 2; variably charged
                     protein Y 2"
                     /codon_start=1
                     /product="testis-specific basic protein Y 2"
                     /protein_id="NP_001002760.1"
                     /db_xref="CCDS:CCDS44029.1"
                     /db_xref="GeneID:442867"
                     /db_xref="HGNC:HGNC:25449"
                     /translation="MMTLVPRARTRAGQDHYSHPCPRFSQVLLTEGIMTYCLTKNLSDV
                     NILHRLLKNGNVRNTLLQSKVGLLTYYVKLYPGEVTLLTRPSIQMRLCCITGSVSRPRS
                     QK"
     regulatory      1182..1187
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BPY2B"
                     /gene_synonym="VCY2B"
     polyA_site      1206
                     /gene="BPY2B"
                     /gene_synonym="VCY2B"
ORIGIN
        1 aatatctcag gacccaggac catgtgatat gggcccaaca cctggatgat gttactcttc
       61 tgcctaggtc atgcgtaaag agggaattag ggcatattgc ttggcccagt cccgtaatga
      121 tatgactctc ctgcttgtgc cagagccaca gaagtgtgct tggtgacata atctttgagg
      181 ctgtcacatc accaagatta tattgtatca ctggaccagc ataaagctga cacttctgac
      241 tatgcccagc cttcaaataa tactacactg tataattggc tcaacaccca ggtgatattg
      301 ttccatttac ctgagaccag ataaaaagcc taatgatgac gcttgtcccc agagccagga
      361 cacgtgcagg acaggatcat tactctcatc cctgccccag attttcacag gtgctgctta
      421 cagagggcat catgacatat tgcttgacaa agaacctaag tgatgttaat attctgcata
      481 ggttgctaaa aaatgggaat gtgagaaata ccttgcttca gtccaaagtg ggcttgctga
      541 catattatgt gaaactgtac ccgggtgaag tgactcttct gactaggccc agcatacaaa
      601 tgagattatg ctgtatcact ggctcagtgt cgaggcccag atcacagaag taattgtgcc
      661 atatgtggaa caagcagcta agcaatagat aacatccatc gtggctctgc cttcaaaggg
      721 aaattttaca tatgtcactg ggaccatcac ccagatgatg tcctgcccac taaaagaatt
      781 gtgacataac gctgactgca aaaactgggt aatgcaactc tcctctttat tctggagtct
      841 gccaaaacaa gggattatca catattgcgg agtccagcac ccaggtaaaa ttttgtcata
      901 tacccagctt cagataccat gcaataatac aactatcata cctggaccca aagaggagag
      961 atattttgat tctcattgcc attcttatgg ccacaagcaa agtaatggtt ctcatagtgg
     1021 tataaagttc acacagtatt atgacactcc cagcgtatca tagaaaatgt gagtagtaca
     1081 atgagtgtta taacagggaa cagcaaacca atgctattgt gattattgga ttcacaccca
     1141 gctgacgcga ctatcattct ctcacaagaa cagaacctgc aaataaagta ctaaatctca
     1201 ccaaaa
//
LOCUS       NM_001002761            1206 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens basic charge Y-linked 2C (BPY2C), mRNA.
ACCESSION   NM_001002761
VERSION     NM_001002761.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1206)
  AUTHORS   Chen FR, Wang Y, Cheng Y, Shi HT, Li H, Jia M, Sha SM and Dong L.
  TITLE     The AC006262.5-miR-7855-5p-BPY2C axis facilitates hepatocellular
            carcinoma proliferation and migration
  JOURNAL   Biochem Cell Biol 99 (3), 348-355 (2021)
   PUBMED   32956593
  REMARK    GeneRIF: The AC006262.5-miR-7855-5p-BPY2C axis facilitates
            hepatocellular carcinoma proliferation and migration.
REFERENCE   2  (bases 1 to 1206)
  AUTHORS   Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD,
            Gianotten J, Oates RD, Silber S, van der Veen F, Page DC and Rozen
            S.
  TITLE     A family of human Y chromosomes has dispersed throughout northern
            Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region
  JOURNAL   Genomics 83 (6), 1046-1052 (2004)
   PUBMED   15177557
REFERENCE   3  (bases 1 to 1206)
  AUTHORS   Wong EY, Tse JY, Yao KM, Lui VC, Tam PC and Yeung WS.
  TITLE     Identification and characterization of human VCY2-interacting
            protein: VCY2IP-1, a microtubule-associated protein-like protein
  JOURNAL   Biol Reprod 70 (3), 775-784 (2004)
   PUBMED   14627543
REFERENCE   4  (bases 1 to 1206)
  AUTHORS   Tse JY, Wong EY, Cheung AN, O WS, Tam PC and Yeung WS.
  TITLE     Specific expression of VCY2 in human male germ cells and its
            involvement in the pathogenesis of male infertility
  JOURNAL   Biol Reprod 69 (3), 746-751 (2003)
   PUBMED   12724276
  REMARK    GeneRIF: VCY2 was weakly expressed at the spermatogonia and
            immunonegative in spermatocytes and round spermatids in testicular
            biopsy specimens with maturation arrest or hypospermatogenesis.
REFERENCE   5  (bases 1 to 1206)
  AUTHORS   Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
            Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A,
            Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R,
            Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R,
            McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S,
            Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP,
            Waterston RH, Wilson RK, Rozen S and Page DC.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
REFERENCE   6  (bases 1 to 1206)
  AUTHORS   Wong EY, Tse JY, Yao KM, Tam PC and Yeung WS.
  TITLE     VCY2 protein interacts with the HECT domain of ubiquitin-protein
            ligase E3A
  JOURNAL   Biochem Biophys Res Commun 296 (5), 1104-1111 (2002)
   PUBMED   12207887
  REMARK    GeneRIF: VCY2 protein interacts with the HECT domain of
            ubiquitin-protein ligase E3A
REFERENCE   7  (bases 1 to 1206)
  AUTHORS   Lahn BT and Page DC.
  TITLE     Functional coherence of the human Y chromosome
  JOURNAL   Science 278 (5338), 675-680 (1997)
   PUBMED   9381176
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382287.5/ ENSP00000371724.1
            NMD candidate          :: translation inferred from conservation
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016728.4.
            Summary: This gene is located in the nonrecombining portion of the
            Y chromosome, and expressed specifically in testis. The encoded
            protein interacts with ubiquitin protein ligase E3A and may be
            involved in male germ cell development and male infertility. Three
            nearly identical copies of this gene exist on chromosome Y; two
            copies are part of a palindromic region. This record represents the
            more telomeric copy within the palindrome. [provided by RefSeq, Jul
            2008].
            CCDS Note: This CCDS ID represents the protein described in PMIDs:
            12724276 and 12207887. It should be noted this transcript is
            predicted to undergo nonsense-mediated mRNA decay (NMD). However,
            the protein is represented because it was detected endogenously in
            PMID: 12724276. Three identical copies of this gene exist on
            chromosome Y; two copies are part of a palindromic region. This
            record represents the more telomeric copy within the palindrome.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1206
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.23"
     gene            1..1206
                     /gene="BPY2C"
                     /gene_synonym="VCY2C"
                     /note="basic charge Y-linked 2C"
                     /db_xref="GeneID:442868"
                     /db_xref="HGNC:HGNC:18225"
     misc_feature    312..314
                     /gene="BPY2C"
                     /gene_synonym="VCY2C"
                     /note="upstream in-frame stop codon"
     CDS             333..653
                     /gene="BPY2C"
                     /gene_synonym="VCY2C"
                     /note="basic protein on Y chromosome 2; variable charge,
                     Y-linked, 2; basic charge, Y-linked 2; variably charged
                     protein Y 2"
                     /codon_start=1
                     /product="testis-specific basic protein Y 2"
                     /protein_id="NP_001002761.1"
                     /db_xref="CCDS:CCDS44030.1"
                     /db_xref="GeneID:442868"
                     /db_xref="HGNC:HGNC:18225"
                     /translation="MMTLVPRARTRAGQDHYSHPCPRFSQVLLTEGIMTYCLTKNLSDV
                     NILHRLLKNGNVRNTLLQSKVGLLTYYVKLYPGEVTLLTRPSIQMRLCCITGSVSRPRS
                     QK"
     regulatory      1182..1187
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BPY2C"
                     /gene_synonym="VCY2C"
     polyA_site      1206
                     /gene="BPY2C"
                     /gene_synonym="VCY2C"
ORIGIN
        1 aatatctcag gacccaggac catgtgatat gggcccaaca cctggatgat gttactcttc
       61 tgcctaggtc atgcgtaaag agggaattag ggcatattgc ttggcccagt cccgtaatga
      121 tatgactctc ctgcttgtgc cagagccaca gaagtgtgct tggtgacata atctttgagg
      181 ctgtcacatc accaagatta tattgtatca ctggaccagc ataaagctga cacttctgac
      241 tatgcccagc cttcaaataa tactacactg tataattggc tcaacaccca ggtgatattg
      301 ttccatttac ctgagaccag ataaaaagcc taatgatgac gcttgtcccc agagccagga
      361 cacgtgcagg acaggatcat tactctcatc cctgccccag attttcacag gtgctgctta
      421 cagagggcat catgacatat tgcttgacaa agaacctaag tgatgttaat attctgcata
      481 ggttgctaaa aaatgggaat gtgagaaata ccttgcttca gtccaaagtg ggcttgctga
      541 catattatgt gaaactgtac ccgggtgaag tgactcttct gactaggccc agcatacaaa
      601 tgagattatg ctgtatcact ggctcagtgt cgaggcccag atcacagaag taattgtgcc
      661 atatgtggaa caagcagcta agcaatagat aacatccatc gtggctctgc cttcaaaggg
      721 aaattttaca tatgtcactg ggaccatcac ccagatgatg tcctgcccac taaaagaatt
      781 gtgacataac gctgactgca aaaactgggt aatgcaactc tcctctttat tctggagtct
      841 gccaaaacaa gggattatca catattgcgg agtccagcac ccaggtaaaa ttttgtcata
      901 tacccagctt cagataccat gcaataatac aactatcata cctggaccca aagaggagag
      961 atattttgat tctcattgcc attcttatgg ccacaagcaa agtaatggtt ctcatagtgg
     1021 tataaagttc acacagtatt atgacactcc cagcgtatca tagaaaatgt gagtagtaca
     1081 atgagtgtta taacagggaa cagcaaacca atgctattgt gattattgga ttcacaccca
     1141 gctgacgcga ctatcattct ctcacaagaa cagaacctgc aaataaagta ctaaatctca
     1201 ccaaaa
//
LOCUS       NM_001002800            5116 bp    mRNA    linear   PRI 26-MAR-2023
DEFINITION  Homo sapiens structural maintenance of chromosomes 4 (SMC4),
            transcript variant 2, mRNA.
ACCESSION   NM_001002800
VERSION     NM_001002800.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5116)
  AUTHORS   Yang Z, Pan X, Wu X, Lin Q, Chen Y, Cai S, Zhang Y, Mai Z, Ahmad N,
            Ma D and Deng L.
  TITLE     TREM-1 induces pyroptosis in cardiomyocytes by activating NLRP3
            inflammasome through the SMC4/NEMO pathway
  JOURNAL   FEBS J 290 (6), 1549-1562 (2023)
   PUBMED   36181338
  REMARK    GeneRIF: TREM-1 induces pyroptosis in cardiomyocytes by activating
            NLRP3 inflammasome through the SMC4/NEMO pathway.
REFERENCE   2  (bases 1 to 5116)
  AUTHORS   Yan Y, Liu C, Zhang J, Li W, Yin X, Dong L, Pang S and Li X.
  TITLE     SMC4 knockdown inhibits malignant biological behaviors of
            endometrial cancer cells by regulation of FoxO1 activity
  JOURNAL   Arch Biochem Biophys 712, 109026 (2021)
   PUBMED   34506757
  REMARK    GeneRIF: SMC4 knockdown inhibits malignant biological behaviors of
            endometrial cancer cells by regulation of FoxO1 activity.
REFERENCE   3  (bases 1 to 5116)
  AUTHORS   You A, Rao G, Wang J, Li J, Zhang Y, Gu J, Ge X, Zhang K, Gao X, Wu
            X, Cheng L, Zhu M and Wang D.
  TITLE     MiR-433-3p restrains the proliferation, migration and invasion of
            glioma cells via targeting SMC4
  JOURNAL   Brain Res 1767, 147563 (2021)
   PUBMED   34147470
  REMARK    GeneRIF: MiR-433-3p restrains the proliferation, migration and
            invasion of glioma cells via targeting SMC4.
REFERENCE   4  (bases 1 to 5116)
  AUTHORS   Ma RM, Yang F, Huang DP, Zheng M and Wang YL.
  TITLE     The Prognostic Value of the Expression of SMC4 mRNA in Breast Cancer
  JOURNAL   Dis Markers 2019, 2183057 (2019)
   PUBMED   31871499
  REMARK    GeneRIF: Study found that mRNA expression of SMC4 was upregulated in
            invasive breast cancer cells. Patients with high mRNA level of SMC4
            suffered different survival with triple negative breast cancer
            (TNBC) and non-TNBC. These results suggest that SMC4 could be a good
            biomarker for predicting the prognosis. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 5116)
  AUTHORS   Chen Y, Huang F, Deng L, Yuan X, Tao Q, Wang T, Li D, Fan Y, Peng Q
            and Tang D.
  TITLE     HIF-1-miR-219-SMC4 Regulatory Pathway Promoting Proliferation and
            Migration of HCC under Hypoxic Condition
  JOURNAL   Biomed Res Int 2019, 8983704 (2019)
   PUBMED   31828143
  REMARK    GeneRIF: study demonstrated a novel HIF-1-miR-219-SMC4 regulatory
            pathway under hypoxic condition in hepatocellular carcinoma cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5116)
  AUTHORS   Kimura K, Cuvier O and Hirano T.
  TITLE     Chromosome condensation by a human condensin complex in Xenopus egg
            extracts
  JOURNAL   J Biol Chem 276 (8), 5417-5420 (2001)
   PUBMED   11136719
REFERENCE   7  (bases 1 to 5116)
  AUTHORS   Ball AR Jr and Yokomori K.
  TITLE     The structural maintenance of chromosomes (SMC) family of proteins
            in mammals
  JOURNAL   Chromosome Res 9 (2), 85-96 (2001)
   PUBMED   11321372
  REMARK    Review article
REFERENCE   8  (bases 1 to 5116)
  AUTHORS   Schmiesing JA, Gregson HC, Zhou S and Yokomori K.
  TITLE     A human condensin complex containing hCAP-C-hCAP-E and CNAP1, a
            homolog of Xenopus XCAP-D2, colocalizes with phosphorylated histone
            H3 during the early stage of mitotic chromosome condensation
  JOURNAL   Mol Cell Biol 20 (18), 6996-7006 (2000)
   PUBMED   10958694
REFERENCE   9  (bases 1 to 5116)
  AUTHORS   Nishiwaki T, Daigo Y, Kawasoe T, Nagasawa Y, Ishiguro H, Fujita M,
            Furukawa Y and Nakamura Y.
  TITLE     Isolation and characterization of a human cDNA homologous to the
            Xenopus laevis XCAP-C gene belonging to the structural maintenance
            of chromosomes (SMC) family
  JOURNAL   J Hum Genet 44 (3), 197-202 (1999)
   PUBMED   10319587
REFERENCE   10  (bases 1 to 5116)
  AUTHORS   Schmiesing JA, Ball AR Jr, Gregson HC, Alderton JM, Zhou S and
            Yokomori K.
  TITLE     Identification of two distinct human SMC protein complexes involved
            in mitotic chromosome dynamics
  JOURNAL   Proc Natl Acad Sci U S A 95 (22), 12906-12911 (1998)
   PUBMED   9789013
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK315070.1, SRR1803615.24208.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000357388.8/ ENSP00000349961.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC106033.1, AB019987.1 and
            AL136877.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001002800.2.
            Summary: This gene belongs to the 'structural maintenance of
            chromosomes' (SMC) gene family. Members of this gene family play a
            role in two changes in chromosome structure during mitotic
            segregation of chromosomes- chromosome condensation and sister
            chromatid cohesion. The protein encoded by this gene is likely a
            subunit of the 13S condensin complex, which is involved in
            chromosome condensation. A pseudogene related to this gene is
            located on chromosome 2. [provided by RefSeq, Jun 2016].
            Transcript Variant: This variant (2) is the longest transcript and
            encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5116
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.33"
     gene            1..5116
                     /gene="SMC4"
                     /gene_synonym="CAP-C; CAPC; SMC-4; SMC4L1"
                     /note="structural maintenance of chromosomes 4"
                     /db_xref="GeneID:10051"
                     /db_xref="HGNC:HGNC:14013"
                     /db_xref="MIM:605575"
     misc_feature    82..84
                     /gene="SMC4"
                     /gene_synonym="CAP-C; CAPC; SMC-4; SMC4L1"
                     /note="upstream in-frame stop codon"
     CDS             106..3972
                     /gene="SMC4"
                     /gene_synonym="CAP-C; CAPC; SMC-4; SMC4L1"
                     /note="isoform 1 is encoded by transcript variant 2;
                     chromosome-associated polypeptide C; SMC protein 4; SMC4
                     structural maintenance of chromosomes 4-like 1"
                     /codon_start=1
                     /product="structural maintenance of chromosomes protein 4
                     isoform 1"
                     /protein_id="NP_001002800.1"
                     /db_xref="CCDS:CCDS3189.1"
                     /db_xref="GeneID:10051"
                     /db_xref="HGNC:HGNC:14013"
                     /db_xref="MIM:605575"
                     /translation="MPRKGTQPSTARRREEGPPPPSPDGASSDAEPEPPSGRTESPATA
                     AETASEELDNRSLEEILNSIPPPPPPAMTNEAGAPRLMITHIVNQNFKSYAGEKILGPF
                     HKRFSCIIGPNGSGKSNVIDSMLFVFGYRAQKIRSKKLSVLIHNSDEHKDIQSCTVEVH
                     FQKIIDKEGDDYEVIPNSNFYVSRTACRDNTSVYHISGKKKTFKDVGNLLRSHGIDLDH
                     NRFLILQGEVEQIAMMKPKGQTEHDEGMLEYLEDIIGCGRLNEPIKVLCRRVEILNEHR
                     GEKLNRVKMVEKEKDALEGEKNIAIEFLTLENEIFRKKNHVCQYYIYELQKRIAEMETQ
                     KEKIHEDTKEINEKSNILSNEMKAKNKDVKDTEKKLNKITKFIEENKEKFTQLDLEDVQ
                     VREKLKHATSKAKKLEKQLQKDKEKVEEFKSIPAKSNNIINETTTRNNALEKEKEKEEK
                     KLKEVMDSLKQETQGLQKEKESREKELMGFSKSVNEARSKMDVAQSELDIYLSRHNTAV
                     SQLTKAKEALIAASETLKERKAAIRDIEGKLPQTEQELKEKEKELQKLTQEETNFKSLV
                     HDLFQKVEEAKSSLAMNRSRGKVLDAIIQEKKSGRIPGIYGRLGDLGAIDEKYDVAISS
                     CCHALDYIVVDSIDIAQECVNFLKRQNIGVATFIGLDKMAVWAKKMTEIQTPENTPRLF
                     DLVKVKDEKIRQAFYFALRDTLVADNLDQATRVAYQKDRRWRVVTLQGQIIEQSGTMTG
                     GGSKVMKGRMGSSLVIEISEEEVNKMESQLQNDSKKAMQIQEQKVQLEERVVKLRHSER
                     EMRNTLEKFTASIQRLIEQEEYLNVQVKELEANVLATAPDKKKQKLLEENVSAFKTEYD
                     AVAEKAGKVEAEVKRLHNTIVEINNHKLKAQQDKLDKINKQLDECASAITKAQVAIKTA
                     DRNLQKAQDSVLRTEKEIKDTEKEVDDLTAELKSLEDKAAEVVKNTNAAEESLPEIQKE
                     HRNLLQELKVIQENEHALQKDALSIKLKLEQIDGHIAEHNSKIKYWHKEISKISLHPIE
                     DNPIEEISVLSPEDLEAIKNPDSITNQIALLEARCHEMKPNLGAIAEYKKKEELYLQRV
                     AELDKITYERDSFRQAYEDLRKQRLNEFMAGFYIITNKLKENYQMLTLGGDAELELVDS
                     LDPFSEGIMFSVRPPKKSWKKIFNLSGGEKTLSSLALVFALHHYKPTPLYFMDEIDAAL
                     DFKNVSIVAFYIYEQTKNAQFIIISLRNNMFEISDRLIGIYKTYNITKSVAVNPKEIAS
                     KGLC"
     misc_feature    106..270
                     /gene="SMC4"
                     /gene_synonym="CAP-C; CAPC; SMC-4; SMC4L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NTJ3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    169..171
                     /gene="SMC4"
                     /gene_synonym="CAP-C; CAPC; SMC-4; SMC4L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NTJ3.2); phosphorylation site"
     misc_feature    187..189
                     /gene="SMC4"
                     /gene_synonym="CAP-C; CAPC; SMC-4; SMC4L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NTJ3.2); phosphorylation site"
     misc_feature    220..222
                     /gene="SMC4"
                     /gene_synonym="CAP-C; CAPC; SMC-4; SMC4L1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NTJ3.2); phosphorylation site"
     misc_feature    226..228
                     /gene="SMC4"
                     /gene_synonym="CAP-C; CAPC; SMC-4; SMC4L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9NTJ3.2);
                     phosphorylation site"
     misc_feature    253..255
                     /gene="SMC4"
                     /gene_synonym="CAP-C; CAPC; SMC-4; SMC4L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NTJ3.2); phosphorylation site"
     misc_feature    532..534
                     /gene="SMC4"
                     /gene_synonym="CAP-C; CAPC; SMC-4; SMC4L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NTJ3.2); phosphorylation site"
     misc_feature    1246..1248
                     /gene="SMC4"
                     /gene_synonym="CAP-C; CAPC; SMC-4; SMC4L1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8CG47; propagated from
                     UniProtKB/Swiss-Prot (Q9NTJ3.2); acetylation site"
     misc_feature    2140..2142
                     /gene="SMC4"
                     /gene_synonym="CAP-C; CAPC; SMC-4; SMC4L1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9NTJ3.2); acetylation site"
     misc_feature    3049..3051
                     /gene="SMC4"
                     /gene_synonym="CAP-C; CAPC; SMC-4; SMC4L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NTJ3.2); phosphorylation site"
     misc_feature    3271..3273
                     /gene="SMC4"
                     /gene_synonym="CAP-C; CAPC; SMC-4; SMC4L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9NTJ3.2); phosphorylation site"
     regulatory      5095..5100
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMC4"
                     /gene_synonym="CAP-C; CAPC; SMC-4; SMC4L1"
                     /note="hexamer: AATAAA"
     polyA_site      5116
                     /gene="SMC4"
                     /gene_synonym="CAP-C; CAPC; SMC-4; SMC4L1"
                     /note="major polyA site"
ORIGIN
        1 attttcgagt gaaggacccg gagccgaaac accggtagga gcggggaggt gggtactaca
       61 caaccgtctc cagccttggt ctgagtggac tgtcctgcag cgaccatgcc ccgtaaaggc
      121 acccagccct ccactgcccg gcgcagagag gaagggccgc cgccgccgtc ccctgacggc
      181 gccagcagcg acgcggagcc tgagccgccg tccggccgca cggagagccc agccaccgcc
      241 gcagagactg caagtgagga acttgataat agaagtttag aagagatttt gaacagcatt
      301 cctcctcccc cgcctccagc aatgaccaat gaagctggag ctcctcggct tatgataact
      361 catattgtaa accagaactt caaatcctat gctggggaga aaattctggg acctttccat
      421 aagcgctttt cctgtattat cgggccaaat ggcagtggca aatccaatgt tattgattct
      481 atgctttttg tgtttggcta tcgagcacaa aaaataagat ctaaaaaact ctcagtatta
      541 atacataatt ctgatgaaca caaggacatt cagagttgta cagtagaagt tcattttcaa
      601 aagataattg ataaggaagg ggatgattat gaagtcattc ctaacagtaa tttctatgta
      661 tccagaacgg cctgcagaga taatacttct gtctatcaca taagtggaaa gaaaaagaca
      721 tttaaggatg ttggaaatct tcttcgaagc catggaattg acttggacca taatagattt
      781 ttaattttac agggtgaagt tgaacaaatt gctatgatga aaccaaaagg ccagactgaa
      841 cacgatgagg gtatgcttga atatttagaa gatataattg gttgtggacg gctaaatgaa
      901 cctattaaag tcttgtgtcg gagagttgaa atattaaatg aacacagagg agagaagtta
      961 aacagggtaa agatggtgga aaaggaaaag gatgccttag aaggagagaa aaacatagct
     1021 atcgaatttc ttaccttgga aaatgaaata tttagaaaaa agaatcatgt ttgtcaatat
     1081 tatatttatg agttgcagaa acgaattgct gaaatggaaa ctcaaaagga aaaaattcat
     1141 gaagatacca aagaaattaa tgagaagagc aatatactat caaatgaaat gaaagctaag
     1201 aataaagatg taaaagatac agaaaagaaa ctgaataaaa ttacaaaatt tattgaggag
     1261 aataaagaaa aatttacaca gctagatttg gaagatgttc aagttagaga aaagttaaaa
     1321 catgccacga gtaaagccaa aaaactggag aaacaacttc aaaaagataa agaaaaggtt
     1381 gaagaattta aaagtatacc tgccaagagt aacaatatca ttaatgaaac aacaaccaga
     1441 aacaatgccc tcgagaagga aaaagagaaa gaagaaaaaa aattaaagga agttatggat
     1501 agccttaaac aggaaacaca agggcttcag aaagaaaaag aaagtcgaga gaaagaactt
     1561 atgggtttca gcaaatcggt aaatgaagca cgttcaaaga tggatgtagc ccagtcagaa
     1621 cttgatatct atctcagtcg tcataatact gcagtgtctc aattaactaa ggctaaggaa
     1681 gctctaattg cagcttctga gactctcaaa gaaaggaaag ctgcaatcag agatatagaa
     1741 ggaaaactcc ctcaaactga acaagaatta aaggagaaag aaaaagaact tcaaaaactt
     1801 acacaagaag aaacaaactt taaaagtttg gttcatgatc tctttcaaaa agttgaagaa
     1861 gcaaagagct cattagcaat gaatcgaagt agggggaaag tccttgatgc aataattcaa
     1921 gaaaaaaaat ctggcaggat tccaggaata tatggaagat tgggggactt aggagccatt
     1981 gatgaaaaat acgacgtggc tatatcatcc tgttgtcatg cactggacta cattgttgtt
     2041 gattctattg atatagccca agaatgtgta aacttcctta aaagacaaaa tattggagtt
     2101 gcaaccttta taggtttaga taagatggct gtatgggcga aaaagatgac cgaaattcaa
     2161 actcctgaaa atactcctcg tttatttgat ttagtaaaag taaaagatga gaaaattcgc
     2221 caagcttttt attttgcttt acgagatacc ttagtagctg acaacttgga tcaagccaca
     2281 agagtagcat atcaaaaaga tagaagatgg agagtggtaa ctttacaggg acaaatcata
     2341 gaacagtcag gtacaatgac tggtggtgga agcaaagtaa tgaaaggaag aatgggttcc
     2401 tcacttgtta ttgaaatctc tgaagaagag gtaaacaaaa tggaatcaca gttgcaaaac
     2461 gactctaaaa aagcaatgca aatccaagaa cagaaagtac aacttgaaga aagagtagtt
     2521 aagttacggc atagtgaacg agaaatgagg aacacactag aaaaatttac tgcaagcatc
     2581 cagcgtttaa tagagcaaga agaatatttg aatgtccaag ttaaggaact tgaagctaat
     2641 gtacttgcta cagcccctga caaaaaaaag cagaaattgc tagaagaaaa cgttagtgct
     2701 ttcaaaacag aatatgatgc tgtggctgag aaagctggta aagtagaagc tgaggttaaa
     2761 cgcttacaca ataccatcgt agaaatcaat aatcataaac tcaaggccca acaagacaaa
     2821 cttgataaaa taaataagca attagatgaa tgtgcttctg ctattactaa agcccaagta
     2881 gcaatcaaga ctgctgacag aaaccttcaa aaggcacaag actctgtctt gcgtacagag
     2941 aaagaaataa aagatactga gaaagaggtg gatgacctaa cagcagagct gaaaagtctt
     3001 gaggacaaag cagcagaggt cgtaaagaat acaaatgctg cagaggaatc cttaccagag
     3061 atccagaaag aacatcgcaa tctgcttcaa gaattaaaag ttattcaaga aaatgaacat
     3121 gctcttcaaa aagatgcact tagtattaag ttgaaacttg aacaaataga tggtcacatt
     3181 gctgaacata attctaaaat aaaatattgg cacaaagaga tttcaaaaat atcactgcat
     3241 cctatagaag ataatcctat tgaagagatt tcggttctaa gcccagagga tcttgaagcg
     3301 atcaagaatc cagattctat aacaaatcaa attgcacttt tggaagcccg gtgtcatgaa
     3361 atgaaaccaa acctcggtgc catcgcagag tataaaaaga aggaagaatt gtatttgcaa
     3421 cgggtagcag aattggacaa aattacttat gaaagagaca gttttagaca ggcatatgaa
     3481 gatcttcgga aacaaaggct taatgaattt atggcaggtt tttatataat aacaaataaa
     3541 ttaaaggaaa attaccaaat gcttactttg ggaggggacg ccgaactcga gcttgtagac
     3601 agcttggatc ctttctctga aggaatcatg ttcagtgttc gaccacctaa gaaaagttgg
     3661 aaaaagatct tcaacctttc gggaggagag aaaacactta gttcattggc tttagtattt
     3721 gctcttcacc actacaagcc cactcccctt tacttcatgg atgagattga tgcagccctt
     3781 gattttaaaa atgtgtccat tgttgcattt tatatatatg aacaaacaaa aaatgcacag
     3841 ttcataataa tttctcttcg aaataatatg tttgagattt cggatagact tattggaatt
     3901 tacaagacat acaacataac aaaaagtgtt gctgtaaatc caaaagaaat tgcatctaag
     3961 ggactttgtt gaactttatg ctgaagattc ttcaagttga ttcagtgtat tactgatttt
     4021 tttctatttg taaaggatta tgagttgtat aaaatacata ctccctaaac tagatcatga
     4081 aactggtttc tgttttatgc agttgtcatt tgtaaagtct aataaaatat tctctataat
     4141 tgcttctaga ttacaaaaat atgacaatct tgtaagtagc agactatgga gaaaaatgag
     4201 ttacctggag ggtcaggtaa cttgccaaac taaaaagtat gttagttgag gcaaagtcct
     4261 aagcaaggtt gtgctatcaa ggctcagcat accttcgtgg gcctttgatt taccaacact
     4321 ggaaatgcct gccaactaat cttggataga ttctttaagg cattccactt agcttgccag
     4381 ttgagacaat caccacagtt attacccaaa tactatgaac atatttttgt aaaccagtca
     4441 ttctgaatta tagtgatgag aatttaaata tatgcttttc tagaatttga tgtttgacca
     4501 tttatgactt aattaccaga gagccagtaa attaggacag tgtttcaaca agcctaggct
     4561 atctcgtaag ttgaaaaata tcccactata gttgcttcat gagtatgaag taagatggcc
     4621 tctgatttac actggttcaa tttacaaatt ttcaacttta tgataggttt atccgggtac
     4681 taaatgcatt tcaacttgat agtttcaact tatgataggt ttaccaggat gtagtcccac
     4741 tgttgaggag catctattta ggggttaatt actttagtaa taagtggaaa gtaagatacc
     4801 ttgagtaatg tttgcctata aaattgtcag cgtattttta cactattggc tcaagaatgt
     4861 tataatgcta agggacataa gttggcaacc acttggtttt tggaaggact ttcggtattg
     4921 tattagaagt ctgccctagc tgttaaattt ctgggtattt atcctaagga attaattaaa
     4981 gagttaattg ttcctttctt cagtgggcca ttgttttaga tatttaaaaa atccaacagt
     5041 ttctatcata atgtaactgt aaaaatgtaa acacattatt agcatggact tttaaataaa
     5101 gatttaaaga aagcaa
//
LOCUS       NM_001002814            8185 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens RAB11 family interacting protein 1 (RAB11FIP1),
            transcript variant 3, mRNA.
ACCESSION   NM_001002814
VERSION     NM_001002814.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8185)
  AUTHORS   Fernandez-de Cespedes MV, Hoffman HK, Carter H, Simons LM, Naing L,
            Ablan SD, Scheiblin DA, Hultquist JF, van Engelenburg SB and Freed
            EO.
  TITLE     Rab11-FIP1C Is Dispensable for HIV-1 Replication in Primary CD4+ T
            Cells, but Its Role Is Cell Type Dependent in Immortalized Human
            T-Cell Lines
  JOURNAL   J Virol 96 (23), e0087622 (2022)
   PUBMED   36354340
  REMARK    GeneRIF: Rab11-FIP1C Is Dispensable for HIV-1 Replication in Primary
            CD4[+] T Cells, but Its Role Is Cell Type Dependent in Immortalized
            Human T-Cell Lines.
REFERENCE   2  (bases 1 to 8185)
  AUTHORS   Fan X, Zhou D, Zhao B, Sha H, Li M, Li X, Yang J and Yan H.
  TITLE     Rab11-FIP1 and Rab11-FIP5 Regulate pIgR/pIgA Transcytosis through
            TRIM21-Mediated Polyubiquitination
  JOURNAL   Int J Mol Sci 22 (19), 10466 (2021)
   PUBMED   34638806
  REMARK    GeneRIF: Rab11-FIP1 and Rab11-FIP5 Regulate pIgR/pIgA Transcytosis
            through TRIM21-Mediated Polyubiquitination. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 8185)
  AUTHORS   Iannantuono NVG and Emery G.
  TITLE     Rab11FIP1 maintains Rab35 at the intercellular bridge to promote
            actin removal and abscission
  JOURNAL   J Cell Sci 134 (12) (2021)
   PUBMED   34152390
  REMARK    GeneRIF: Rab11FIP1 maintains Rab35 at the intercellular bridge to
            promote actin removal and abscission.
REFERENCE   4  (bases 1 to 8185)
  AUTHORS   Alvarez-Arce A, Lee-Rivera I, Lopez E and Lopez-Colome AM.
  TITLE     Thrombin-activated PAR1 membrane expression is regulated by
            Rab11a-RCP complex dissociation
  JOURNAL   Cell Signal 75, 109748 (2020)
   PUBMED   32860953
  REMARK    GeneRIF: Thrombin-activated PAR1 membrane expression is regulated by
            Rab11a-RCP complex dissociation.
REFERENCE   5  (bases 1 to 8185)
  AUTHORS   Kim JY, Cho KH, Jeong BY, Park CG and Lee HY.
  TITLE     Zeb1 for RCP-induced oral cancer cell invasion and its suppression
            by resveratrol
  JOURNAL   Exp Mol Med 52 (7), 1152-1163 (2020)
   PUBMED   32728068
  REMARK    GeneRIF: Zeb1 for RCP-induced oral cancer cell invasion and its
            suppression by resveratrol.
REFERENCE   6  (bases 1 to 8185)
  AUTHORS   Peden AA, Schonteich E, Chun J, Junutula JR, Scheller RH and
            Prekeris R.
  TITLE     The RCP-Rab11 complex regulates endocytic protein sorting
  JOURNAL   Mol Biol Cell 15 (8), 3530-3541 (2004)
   PUBMED   15181150
  REMARK    GeneRIF: RCP functions primarily as a Rab11 binding protein that
            regulates protein sorting in tubular endosomes.
REFERENCE   7  (bases 1 to 8185)
  AUTHORS   Theriault C, Rochdi MD and Parent JL.
  TITLE     Role of the Rab11-associated intracellular pool of receptors formed
            by constitutive endocytosis of the beta isoform of the thromboxane
            A2 receptor (TP beta)
  JOURNAL   Biochemistry 43 (19), 5600-5607 (2004)
   PUBMED   15134434
  REMARK    GeneRIF: Receptor cell surface expression and endocytosis
            experiments reveal that the small GTPase Rab11 protein is a
            determinant factor in controlling thromboxane A2 receptor beta
            isoform recycling back to the cell surface.
REFERENCE   8  (bases 1 to 8185)
  AUTHORS   Wallace DM, Lindsay AJ, Hendrick AG and McCaffrey MW.
  TITLE     The novel Rab11-FIP/Rip/RCP family of proteins displays extensive
            homo- and hetero-interacting abilities
  JOURNAL   Biochem Biophys Res Commun 292 (4), 909-915 (2002)
   PUBMED   11944901
REFERENCE   9  (bases 1 to 8185)
  AUTHORS   Lindsay AJ, Hendrick AG, Cantalupo G, Senic-Matuglia F, Goud B,
            Bucci C and McCaffrey MW.
  TITLE     Rab coupling protein (RCP), a novel Rab4 and Rab11 effector protein
  JOURNAL   J Biol Chem 277 (14), 12190-12199 (2002)
   PUBMED   11786538
  REMARK    GeneRIF: Rab coupling protein (RCP), a novel Rab4 and Rab11 effector
            protein
REFERENCE   10  (bases 1 to 8185)
  AUTHORS   Hales CM, Griner R, Hobdy-Henderson KC, Dorn MC, Hardy D, Kumar R,
            Navarre J, Chan EK, Lapierre LA and Goldenring JR.
  TITLE     Identification and characterization of a family of Rab11-interacting
            proteins
  JOURNAL   J Biol Chem 276 (42), 39067-39075 (2001)
   PUBMED   11495908
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK226111.1, SRR7346977.2954641.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000330843.9/ ENSP00000331342.4
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK026275.1, AY280968.1, AC130304.12 and BC077720.1.
            On May 17, 2019 this sequence version replaced NM_001002814.2.
            Summary: This gene encodes one of the Rab11-family interacting
            proteins (Rab11-FIPs), which play a role in the Rab-11 mediated
            recycling of vesicles. The encoded protein may be involved in
            endocytic sorting, trafficking of proteins including integrin
            subunits and epidermal growth factor receptor (EGFR), and transport
            between the recycling endosome and the trans-Golgi network.
            Alternative splicing results in multiple transcript variants. A
            pseudogene is described on the X chromosome. [provided by RefSeq,
            Dec 2013].
            Transcript Variant: This variant (3) represents the longer
            transcript and encodes the longer isoform (3).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..8185
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.23"
     gene            1..8185
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="RAB11 family interacting protein 1"
                     /db_xref="GeneID:80223"
                     /db_xref="HGNC:HGNC:30265"
                     /db_xref="MIM:608737"
     CDS             57..3908
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="isoform 3 is encoded by transcript variant 3;
                     Rab-interacting recycling protein; Rab effector protein;
                     RAB11 coupling protein; RAB11 family interacting protein 1
                     (class I)"
                     /codon_start=1
                     /product="rab11 family-interacting protein 1 isoform 3"
                     /protein_id="NP_001002814.2"
                     /db_xref="CCDS:CCDS34882.1"
                     /db_xref="GeneID:80223"
                     /db_xref="HGNC:HGNC:30265"
                     /db_xref="MIM:608737"
                     /translation="MSLMVSAGRGLGAVWSPTHVQVTVLQARGLRAKGPGGTSDAYAVI
                     QVGKEKYATSVSERSLGAPVWREEATFELPSLLSSGPAAAATLQLTVLHRALLGLDKFL
                     GRAEVDLRDLHRDQGRRKTQWYKLKSKPGKKDKERGEIEVDIQFMRNNMTASMFDLSMK
                     DKSRNPFGKLKDKIKGKNKDSGSDTASAIIPSTTPSVDSDDESVVKDKKKKSKIKTLLS
                     KSNLQKTPLSQSMSVLPTSKPEKVLLRPGDFQSQWDEDDNEDESSSASDVMSHKRTAST
                     DLKQLNQVNFTLPKKEGLSFLGGLRSKNDVLSRSNVCINGNHVYLEQPEAKGEIKDSSP
                     SSSPSPKGFRKKHLFSSTENLAAGSWKEPAEGGGLSSDRQLSESSTKDSLKSMTLPSYR
                     PAPLVSGDLRENMAPANSEATKEAKESKKPESRRSSLLSLMTGKKDVAKGSEGENPLTV
                     PGREKEGMLMGVKPGEDASGPAEDLVRRSEKDTAAVVSRQGSSLNLFEDVQITEPEAEP
                     ESKSEPRPPISSPRAPQTRAVKPRLEVSPEAQPTARLPSPTDSPSSLPPLPSSSGQASV
                     PSELGHGADTQSSESPSVFSSLSSPIAAPISTSTPIESWPLVDRGQAKSEGPPLLPKAE
                     LQTESLTPVPNSGSSALGSLFKQPSFPANKGTEDSLMGRTRETGTEKNTSSLELEESLP
                     EQPETGRQEEELPRFPCKKQDYSPSSGEAQEVPFALSLSSDGAVSPVGELAAGGDRDLE
                     SQAGSLVESKARDAAEEVAPPLPMGASVPSIDSMMRKLEEMGLNLRKDQKKTKKRVSFS
                     EQLFTEEAVAGAALLVEGHSSCPQELNPAWSVAGNASDGEPPESPHAEDSERESVTTPG
                     PATCGAPASPADHLLLPSQEESFSEVPMSEASSAKDTPLFRMEGEDALVTQYQSKASDH
                     EGLLSDPLSDLQLVSDFKSPIMADLNLSLPSIPEVASDDERIDQVEDDGDQVEDDGETA
                     KSSTLDIGALSLGLVVPCPERGKGPSGEADRLVLGEGLCDFRLQAPQASVTAPSEQTTE
                     FGIHKPHLGKSSSLDKQLPGPSGGEEEKPMGNGSPSPPPGTSLDNPVPSPSPSEIFPVT
                     HSFPSSAHSDTHHTSTAESQKKATAEGSAGRVENFGKRKPLLQAWVSPSETHPVSAQPG
                     AGTGSAKHRLHPVKPMNAMATKVANCSLGTATIISENLNNEVMMKKYSPSDPAFAYAQL
                     THDELIQLVLKQKETISKKEFQVRELEDYIDNLLVRVMEETPNILRIPTQVGKKAGKM"
     misc_feature    537..899
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6WKZ4.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    606..608
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D620; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    660..662
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    672..674
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    756..758
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    954..956
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q6WKZ4.3);
                     phosphorylation site"
     misc_feature    999..1001
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    1044..2237
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6WKZ4.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1071..1073
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    1077..1079
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D620; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    1083..1085
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    1089..1091
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    1122..1124
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    1125..1127
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    1200..1202
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D620; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    1359..1361
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    1485..1487
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    1641..1643
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    1689..1691
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q6WKZ4.3);
                     phosphorylation site"
     misc_feature    2277..2402
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6WKZ4.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2328..2330
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    2559..2795
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6WKZ4.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2961..3035
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6WKZ4.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3165..3479
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6WKZ4.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3459..3461
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q6WKZ4.3); phosphorylation site"
     misc_feature    3711..3905
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6WKZ4.3);
                     Region: Necessary for interaction with RAB4A and RAB11A,
                     subcellular location and endosomal recycling"
     regulatory      7830..7835
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="hexamer: AATAAA"
     polyA_site      7854
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="major polyA site"
     regulatory      7884..7889
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
                     /note="hexamer: AATAAA"
     polyA_site      7913
                     /gene="RAB11FIP1"
                     /gene_synonym="NOEL1A; rab11-FIP1; RCP"
ORIGIN
        1 gtggaggccg ccagtcgcgg cgatcttctc ctcgcttctg gagtgttatc gtcaccatgt
       61 ccctaatggt ctcggctggc cggggcctgg gggccgtgtg gtccccaacc cacgtgcagg
      121 tgacggtgct gcaggcgcgg ggcctgcggg ccaagggccc cgggggcacg agcgacgcgt
      181 acgcggtgat ccaggtgggc aaggagaagt acgccacctc cgtgtcggag cgcagcctgg
      241 gcgcgcccgt gtggcgcgag gaggccacct tcgagctgcc atcgctgctg tcctccggac
      301 ccgcggccgc cgccaccctg cagctcaccg tgctgcaccg cgcgctgctc ggcctcgaca
      361 agttcctggg ccgcgccgag gtggacctgc gggatctgca ccgcgaccag ggccgcagga
      421 agacgcagtg gtataagttg aaatccaaac caggaaagaa ggacaaggag cgaggagaaa
      481 ttgaggttga catccagttt atgagaaaca acatgactgc cagcatgttt gacctttcta
      541 tgaaagacaa gtctcggaat ccatttggaa agctgaagga caagatcaag gggaagaata
      601 aggacagtgg gtcagacacc gcctccgcca tcatccctag cacgacacct tcggtcgaca
      661 gtgatgatga gtctgtggtt aaagacaaga aaaagaaatc aaagatcaag accttacttt
      721 ccaagtcaaa tttgcagaag acgcctcttt cccagtccat gtctgtcctg ccgacttcaa
      781 agccagaaaa agtgctgctt cgtcccggag actttcagtc ccagtgggat gaagatgaca
      841 atgaggatga gtcctcctcg gcctcggatg tcatgtctca caagagaaca gcgagtacgg
      901 atcttaagca actgaaccag gtcaacttta cccttcccaa gaaggaagga ctttcctttc
      961 ttggtggcct tcggtctaag aatgatgtcc tttcccgctc taatgtctgc atcaatggga
     1021 accatgttta cctggagcag ccagaagcca agggtgagat caaggatagc agcccgtcct
     1081 cctccccatc ccccaagggc ttcagaaaga agcatttgtt ctcttctaca gagaacctgg
     1141 cggctgggtc ttggaaggag cctgctgaag gaggtgggct gtcttctgac aggcagctct
     1201 ccgaatcttc caccaaggac tccttgaagt ctatgaccct gccgtcctac cgacctgccc
     1261 cactggtcag tggggacctc agggaaaaca tggcccccgc aaactcagag gccacaaaag
     1321 aagctaagga gagcaagaag ccagagagca ggaggtcctc tttgctgtct ctgatgacgg
     1381 ggaagaagga tgtggctaag ggcagtgaag gtgaaaaccc tctcacggtc ccagggaggg
     1441 agaaggaagg catgctgatg ggggttaagc cgggggagga cgcatcgggg cctgctgaag
     1501 accttgtgag aagatctgag aaagatactg cagctgttgt ctccagacag ggcagctccc
     1561 tgaacctctt tgaagatgtg cagatcacag aaccagaagc tgagccagag tccaagtctg
     1621 aaccgagacc tccaatttcc tctccgaggg ctccccagac cagagctgtc aagccccgac
     1681 tggaagtgtc tccagaggcg caacccacag ccaggcttcc ttcccctact gactcccctt
     1741 cctctcttcc tcctcttcct tctagctctg gccaggcatc tgtcccctct gaattgggac
     1801 atggtgcaga cacacagtcc tctgagagtc cttctgtctt ctcctctctc tcatctccca
     1861 tagcagctcc catttccaca tccactccaa ttgaaagctg gcctctcgta gacaggggcc
     1921 aggccaagtc tgaaggacca cccttgctcc ctaaggcaga gttgcaaact gagagtttaa
     1981 caccggttcc aaattctggt tcttctgccc tgggatcact tttcaaacag ccatcctttc
     2041 cagcaaataa agggacagaa gattctctga tgggcaggac ccgtgagaca ggcacagaga
     2101 agaacaccag cagccttgag ttggaggagt ctctcccaga gcagcctgaa acagggcgac
     2161 aagaggaaga acttccgaga ttcccctgca aaaaacaaga ctacagccca tcatctggag
     2221 aagcccagga agtaccgttt gccctttcac tcagcagtga tggagctgtg agccctgttg
     2281 gggagcttgc agcaggagga gacagagact tggagagtca ggctgggtct cttgtggaga
     2341 gcaaagccag ggatgcagct gaagaagtgg cgccccctct tcccatggga gcatcagtcc
     2401 cttccattga ttccatgatg cggaagctgg aagagatggg tctgaacctc cgcaaggacc
     2461 agaagaaaac caagaagcgt gtgtcatttt ctgagcagct cttcacggaa gaggcagtgg
     2521 cgggggctgc cttgctggtg gaaggacaca gcagttgtcc ccaggagctg aaccctgcat
     2581 ggtctgttgc tggaaacgcg tctgacggag agcctcctga gtctccccac gcagaggact
     2641 cagaaaggga atcggtgacc acacctgggc cagcgacgtg tggtgcgcca gcctccccag
     2701 cggatcacct cctcctcccc tcccaggagg agagtttctc cgaagtcccc atgagtgaag
     2761 caagctcagc gaaagacact ccactcttta ggatggaggg agaggatgcc cttgtgactc
     2821 agtatcagag caaagccagt gaccacgaag gtttattgtc tgaccccttg agtgaccttc
     2881 agttggtctc agattttaaa tctccaatca tggccgatct gaacttaagc cttccttcca
     2941 ttcctgaagt cgcatcggat gatgaaagaa tagatcaggt tgaagatgac ggagatcagg
     3001 ttgaagatga tggagagaca gcaaagtcgt caactctgga cataggagct ttgtccttgg
     3061 gcttggtagt cccctgtcct gagaggggaa aggggcccag tggcgaggca gataggttgg
     3121 tactggggga gggcctgtgt gatttcaggc tgcaagcacc ccaggcatct gtgacagctc
     3181 cttcagagca gaccacagag ttcggaattc acaaaccaca tcttggcaag agctcaagct
     3241 tggataaaca gctgccaggc cccagtggtg gtgaggaaga aaaaccgatg ggaaatggga
     3301 gtccaagccc gcctcctggc acatccctgg acaatcctgt acccagcccc tccccttctg
     3361 agatctttcc tgtcacacac tctttcccca gctctgcaca ttctgacact caccacacca
     3421 gcacagcaga atctcaaaaa aaagccacag cagagggctc cgctggtaga gttgaaaatt
     3481 ttggcaagag gaagccactc ctccaggcct gggtctcacc ctcggagaca catccagtct
     3541 cagctcagcc aggcgctgga actgggtcag ccaagcacag acttcatcct gtgaagccaa
     3601 tgaatgcaat ggccaccaag gttgctaact gcagcttggg aactgccacc atcatcagtg
     3661 agaacttgaa caatgaggtc atgatgaaga aatacagccc ctcggaccct gcatttgcat
     3721 atgcgcagct gacccacgat gagctgattc agctggtcct caaacagaag gaaacgataa
     3781 gcaagaagga gttccaggtc cgcgagctgg aagactacat tgacaacctg cttgtcaggg
     3841 tcatggaaga aacccccaat atcctccgca tcccgactca ggttggcaaa aaagcaggaa
     3901 agatgtaaat cagcagaaaa aaaacaccga gacgtttctg tgacttcact ttcacctgct
     3961 ccaggggtca aggacttgcc ttgcctgata accagccagc aggctccgaa tcaccatctc
     4021 cctcacatgt tatccggcaa gagtgaattc taccaatgga agccaggtta atgattacaa
     4081 ttaatctttt actgtacatt cccaaggctt tagttttaaa tgccactgtg cctttaacaa
     4141 ggttgtaaat attttatgcc caccagagat gtggtcataa gatctgatcc tgagccagag
     4201 attcagatgg cacaggaagt attcatgtat tttaacactg gggttttctt tctttcatac
     4261 tgagattttt tttcagtatg tatcctccag ctcttaaagc ttacctgaga aagctttaaa
     4321 tgagaaaagg accatgcgat tggtgctgtg ttacatacac atactttctt ggcttctgag
     4381 tagctcaggt gtggcttttg gctgcagatg ttaaattttg ataccatgta aacctaccca
     4441 gcttctcaga cttgggtctt gttttttgat gggaacagag gtgtttagag aaagcctctg
     4501 agtatgcctt tcagattttg aacaagcggc cttttctaaa catcgacttc tactactctc
     4561 tagccttaaa ataccttctg cttagatcca gggcccttct actggagata ggaaaagtag
     4621 aattcaggaa ttaaaagaat tactctttat tcaatttgag gaacttggtg aaagcccctc
     4681 ctcttatgac agccaggttc ctgctggcta gaccagccta ttcagcgctt tgctagggga
     4741 ttgggtggtc cacgcactcg ctaatacagt tctccaggtg tggaatgatg tcaatacgat
     4801 tgcttggcct tttccccctg tgcctttgct cggtgctctg gtttcctcag caacactcct
     4861 tgtaaggggc agagacaggg tccaccaact ccccaagatg aagaagcccc ttcaggccag
     4921 tcgtggtggc tcatgcctgt aatcccagca ctttgcaagg ccgaggaggg tggatcactt
     4981 gaggtcagga gttcgagacc agcctgacca acatggcgaa accccatctc tactaaaaat
     5041 acaaaaatta gcttggcatg gtggtgcgtg cctgtaatcc cagctactcg ggaggctggg
     5101 gcaggagaat tgcttgaact tgggagatgg aggctgcagc gagccaagat cgtgccactg
     5161 cactccagcc tgggcaagag tttttttaag actcttaaaa aaagagcctg ggcaattttt
     5221 ttaagactct gtcttaaaaa aaactaaaaa gaaaaaaaga agccccttca ctctacaggg
     5281 gacaggagac catggattgg accccaaagg gattgaactg catctgcatg tctgtccttt
     5341 gaacactttc tctccctgcc caaaaggaaa cccaaattat ttgtgggata ctggggaaat
     5401 tgtagtgaag ggcttaatgt agttaataaa agttaaaagt cagtagaaaa caggtgcctc
     5461 agccttcaaa tggttgcttt ttttccattt tccctcatga atagactcac cagcatttta
     5521 cccccttgtt ataaaactgt gcagagcaag aagatgatac ttatttttga atttgtattt
     5581 ttaaaactag atttatagac tttttttttt tttaactagg gcacttgctt ccttcttagc
     5641 taaaagcacc agctgagatt tttcaggtaa ttttgttgtt actcacttaa gactggaatt
     5701 agaatgtttc tggtatttct catttttttc cctggctatg atagaatctc atctaatctt
     5761 gacatctctc ctaggggaag aatatcacag gctaatagcg tggttggggg tgaagatgat
     5821 agcagttatt aaatcaggaa tctcttttat gtgtgtcctt gttacattga ggttaagaga
     5881 caaaatcatt ggcagtgcaa tctctttcca ggatttcgtt tgctgtggca ttggttatat
     5941 cagagcactt taatctgaag gatgatactg taacttgatt tatctaatta gcttttaatt
     6001 atctacagct attttatttt atttaattct ctcctacagt actgggacca ctgtaaactt
     6061 ctcagatgac ttgtattttt gtagtgctat gaaatttatt tacatactta taaagaaaac
     6121 tgtatgttca cttgaactct gaaaatgtac atgtatggct ggacgcggtg gctcacgcct
     6181 gtaatcccag cactttggga ggctgaggcg ggtgaatcac ttgattgagg tcaggagttc
     6241 gagaccagcc tggccaacat ggcaaaaccc cgtctctact aaaaaataca gaaattagct
     6301 gggtgtggtg gcagacagct gtaatctcag ctgctcggga ggctgaggca caagaatcgc
     6361 ttgagccagg gaggtggagg ttgcagtgag ctgagatcac atcattgcac tccagcctgg
     6421 gcaacgggcg agactctgtc tcaaaaaaaa gaaagaaaga aaaggtacat gtatatattt
     6481 gtcctgcatt atgtttttta cttgatataa atgtattttt actgtgatag tccaagtgcc
     6541 ctggggggca ggtgtgctct atgtggttct tcttccattg gagagctggc gtagagatct
     6601 gcagtgttca caaggatgtt ggtttggaga tgtctgctgc taggacctgg ggtgtgtgac
     6661 tcagtccata tgagagggac atctgggtgg aggagtaaat tcctgtgctc tgaaatgcca
     6721 cttggtagct ctggacaatg aaggacaatt gactcaaggg tgcctggctt ctgctgctgc
     6781 tgggaaaaaa ttcagtttat agcattcctg cacctcccaa agtagataac ctggaggtca
     6841 ttcagttaac aactgtccct gaggactcag ttttggggga ggggttatct gggagaagct
     6901 ttagcctgtt ctgagccatt aggagacatt agtgaattgg agcactggag aatcctacaa
     6961 atggcctatg tctcagaaga gctgggacct ccttccagct gctgcagatg ctgacaggcc
     7021 ctgggaggct gctgtgctct ggagaagctg gagcagctca tttcttggcc tagcctggct
     7081 gcctcagaaa gagcagtcag gacttgaggg aagcatcaaa ttctataccc ataaactgca
     7141 gttggaagtc agctttttga aatgtccagc ctttgcccaa ttgtttcaga tcatctcatg
     7201 cctcaggctt tggcaggtat cctgccctcc atcttattcc agtgtgttca cctcatcaag
     7261 gcagcagagt ggatgaagga gtaagtctgc cctttgccat actgaacagc tgtggacccc
     7321 gattggtgag ggctctgcat atgcctgtat gaaggagata caggtgtgtg tgcacatgcc
     7381 ggtatgaaga agacacaggc atgtgcttct cagttttgct aacagtggga gctcaacggg
     7441 gcagagggag gaaggtccat gatgctcagc cacatactgt agagagaggc aatttaatgt
     7501 taaatgacgc accatcctcc ctcccaccct tctcccagtc aacttttttt ctttttctag
     7561 aactactaat tatctctcaa ggctgaaaaa ttaattgcct taggtggaga acttaattcc
     7621 tagtatccac caaacttaac tccgtatctc catatggtgt ctccatatct actgtgtgag
     7681 ctacttaact gacgccctct tcctccaact gaaggatcgc ccaacgtttt tggattatag
     7741 aattattatt tcctgctttc tttctttggg acttttgaat ttctttggtt tcgtttttaa
     7801 gaagtaaccc aacatttcct acaacactaa ataaaatggt acttaccttt caaagatttg
     7861 tgtctgtagt ttggtatggg tgcaataaaa atttattttg tcttcctgga aaacctctct
     7921 tggtgggggt ggggggatga ccagtgtttc tcatcccatg agggtctctc actgggattt
     7981 ctgttgctgc catcttgcct ggttcccagg agtcccaagg ccctttttct caaagaggac
     8041 ggacatgtct ggtcccttcg gatgcaccct tcatcttggc ctgagggacc atggcactgg
     8101 ccagagaaac tgagttggaa cgtgctgccc ccttttcctt tgcagccggt acccttggct
     8161 gagcatttgg acagggtctt tcctc
//
LOCUS       NM_001002836            1940 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 787 (ZNF787), transcript variant 1,
            mRNA.
ACCESSION   NM_001002836
VERSION     NM_001002836.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1940)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S, Das
            PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A, Ginno
            PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of human
            transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC077728.1, SRR1163655.155293.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142680,
            SAMEA2152474 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000610935.2/ ENSP00000478557.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC024580.6, BC077728.1, KF573663.1 and AI037960.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001002836.3.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1940
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     gene            1..1940
                     /gene="ZNF787"
                     /gene_synonym="TIP20"
                     /note="zinc finger protein 787"
                     /db_xref="GeneID:126208"
                     /db_xref="HGNC:HGNC:26998"
     misc_feature    27..29
                     /gene="ZNF787"
                     /gene_synonym="TIP20"
                     /note="upstream in-frame stop codon"
     CDS             135..1283
                     /gene="ZNF787"
                     /gene_synonym="TIP20"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transcription termination factor I interacting peptide 20;
                     TTF-I-interacting peptide 20"
                     /codon_start=1
                     /product="zinc finger protein 787 isoform 1"
                     /protein_id="NP_001002836.2"
                     /db_xref="CCDS:CCDS42634.1"
                     /db_xref="GeneID:126208"
                     /db_xref="HGNC:HGNC:26998"
                     /translation="MELREEAWSPGPLDSEDQQMASHENPVDILIMDDDDVPSWPPTKL
                     SPPQSAPPAGPPPRPRPPAPYICNECGKSFSHWSKLTRHQRTHTGERPNACADCGKTFS
                     QSSHLVQHRRIHTGEKPYACLECGKRFSWSSNLMQHQRIHTGEKPYTCPDCGRSFTQSK
                     SLAKHRRSHSGLKPFVCPRCGRGFSQPKSLARHLRLHPELSGPGVAAKVLAASVRRAKG
                     PEEAVAADGEIAIPVGDGEGIIVVGAPGEGAAAAAAMAGAGAKAAGPRSRRAPAPKPYV
                     CLECGKGFGHGAGLLAHQRAQHGDGLGAAGGEEPAHICVECGEGFVQGAALRRHKKIHA
                     VGAPSVCSSCGQSYYRAGGEEEDDDDEAAGGRCPECRGGEGR"
     misc_feature    135..329
                     /gene="ZNF787"
                     /gene_synonym="TIP20"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6DD87.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    483..485
                     /gene="ZNF787"
                     /gene_synonym="TIP20"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q6DD87.4); phosphorylation site"
     misc_feature    498..500
                     /gene="ZNF787"
                     /gene_synonym="TIP20"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455; propagated from
                     UniProtKB/Swiss-Prot (Q6DD87.4); phosphorylation site"
     misc_feature    528..530
                     /gene="ZNF787"
                     /gene_synonym="TIP20"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q6DD87.4); phosphorylation site"
     misc_feature    1203..1280
                     /gene="ZNF787"
                     /gene_synonym="TIP20"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6DD87.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1917..1922
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF787"
                     /gene_synonym="TIP20"
                     /note="hexamer: AATAAA"
     polyA_site      1940
                     /gene="ZNF787"
                     /gene_synonym="TIP20"
                     /note="major polyA site"
ORIGIN
        1 acttccggcc tgggcgcccg tccccctgac cccagggtct gagtcgccgc tgccgccgct
       61 gccaccatcc gcgaggcagg agagaggagg aggagtgcgg cgcggcggcc ccgggaccaa
      121 ggagggaccc agacatggag ctgcgggaag aagcctggtc tccggggccg ctggattctg
      181 aggaccagca gatggccagt cacgagaacc cagtggacat cctcatcatg gatgatgacg
      241 acgtccccag ctggcctccc accaagctgt ccccgcccca gtctgcgccc ccagccggcc
      301 cgcctccccg gccgcggccg cccgccccct acatctgcaa cgagtgtggc aagagcttta
      361 gccactggtc caagctgacg cggcaccagc gcacgcacac cggcgagcgg cccaacgcct
      421 gcgccgactg cggcaagacc ttctcgcaga gctcgcacct ggtgcagcac cggcgcatcc
      481 acacgggcga gaagccctac gcctgcttgg agtgcggcaa gcgcttcagc tggagctcca
      541 acctcatgca gcaccagcgc atccacacgg gcgagaagcc ctacacctgc cccgactgcg
      601 gccgcagctt cactcagagc aagagcctgg ccaagcaccg gcgctcgcac agcggcctca
      661 agcccttcgt gtgcccgcgc tgcggccgcg gcttcagcca gcccaagagc ctcgcgcgtc
      721 acctgcggct gcacccggag ctgtcggggc ctggcgtggc ggccaaggtg ctggcggcta
      781 gcgtccggcg ggccaagggg cccgaagagg cggtggcggc ggacggcgag atcgccatcc
      841 ccgtgggcga tggcgagggc atcatcgtgg tgggcgcgcc gggcgagggg gccgcggccg
      901 cggcagccat ggcgggcgcg ggggcaaagg ccgcggggcc ccggtcgcgg cgcgccccgg
      961 cccccaagcc gtacgtgtgt ctggagtgcg ggaagggctt cgggcacggg gccgggctcc
     1021 tggcgcacca gcgggcccag cacggggacg ggctcggggc ggcggggggc gaggagccgg
     1081 cccacatctg cgtggagtgc ggggagggct tcgtgcaggg cgccgcgctc cggagacaca
     1141 agaagatcca cgcggtgggc gcgccctcgg tctgcagcag ctgcggacag agctactacc
     1201 gcgcgggcgg ggaggaggag gacgacgacg acgaggccgc gggcgggcgg tgccccgagt
     1261 gccgcggtgg ggagggccgg taggggaggg gcccgggggg gggggcgggc agggcccctc
     1321 gggcttggcg ggagcgacga cgtgcaagac caagagaccc agggagaagc ggacggggtg
     1381 cgatggaccc cgcggcatcc ccggctcccc gccctcctct gtccctgcgc cgtccgtggg
     1441 ggggcactgg ggcgtattag ggcccgttca cttctccgcc tcgagactct gccccctcag
     1501 cctggcccgc ccttcctaag ttatcggcct gcgagccgga gagacaatgg agagaactgc
     1561 agaggccgag tggcgaccag gccccaagcg gaaggccatt ttccctgctc ttcctcagtt
     1621 gtccggggcg ggggtggggg gtgctgcgag gaatggagaa accaggccct ttagaggatc
     1681 ccagagaggg aagagaacca ggggcccttt tctcttttag aattttcttt taatcagccc
     1741 accttttgac tccccgcccg ccccaatcca ttattttttt ctgccttccg ggtcccatcc
     1801 ttagagctcg agtcgttcct tcccctcctg gattccgggt agcagaggca gcgccgcagg
     1861 aggcgggtgc ccgtttgtcc caggcctggg cgtggtggag gaaggggtgc tggaacaata
     1921 aacggcacta tccaaatgtc
//
LOCUS       NM_001002847            2803 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens DERPC proline and glycine rich nuclear protein (DERPC),
            transcript variant 4, mRNA.
ACCESSION   NM_001002847
VERSION     NM_001002847.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2803)
  AUTHORS   Bigaud E and Corrales FJ.
  TITLE     Methylthioadenosine (MTA) Regulates Liver Cells Proteome and
            Methylproteome: Implications in Liver Biology and Disease
  JOURNAL   Mol Cell Proteomics 15 (5), 1498-1510 (2016)
   PUBMED   26819315
REFERENCE   2  (bases 1 to 2803)
  AUTHORS   Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ and
            Mohammed S.
  TITLE     Toward a comprehensive characterization of a human cancer cell
            phosphoproteome
  JOURNAL   J Proteome Res 12 (1), 260-271 (2013)
   PUBMED   23186163
REFERENCE   3  (bases 1 to 2803)
  AUTHORS   Murakami T, Takano R, Takeo S, Taniguchi R, Ogawa K, Ohashi E and
            Tsurimoto T.
  TITLE     Stable interaction between the human proliferating cell nuclear
            antigen loader complex Ctf18-replication factor C (RFC) and DNA
            polymerase {epsilon} is mediated by the cohesion-specific subunits,
            Ctf18, Dcc1, and Ctf8
  JOURNAL   J Biol Chem 285 (45), 34608-34615 (2010)
   PUBMED   20826785
REFERENCE   4  (bases 1 to 2803)
  AUTHORS   Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V
            and Han DK.
  TITLE     Quantitative phosphoproteomic analysis of T cell receptor signaling
            reveals system-wide modulation of protein-protein interactions
  JOURNAL   Sci Signal 2 (84), ra46 (2009)
   PUBMED   19690332
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2803)
  AUTHORS   Green AR, Krivinskas S, Young P, Rakha EA, Paish EC, Powe DG and
            Ellis IO.
  TITLE     Loss of expression of chromosome 16q genes DPEP1 and CTCF in lobular
            carcinoma in situ of the breast
  JOURNAL   Breast Cancer Res Treat 113 (1), 59-66 (2009)
   PUBMED   18213475
REFERENCE   6  (bases 1 to 2803)
  AUTHORS   Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G,
            Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E,
            Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM,
            Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C,
            Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M,
            Clark LM, Cohn JD, Denys M, Detter JC, Dickson M,
            Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos
            D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady
            DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand
            CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H,
            Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y,
            Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ,
            Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S,
            Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer
            J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH, Scott
            D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R, Tesmer
            JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M, Tsai M,
            Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL, Wills PL,
            Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA, Deaven L,
            Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler EE, Gilna
            P, Lucas SM, Myers RM, Rubin EM and Pennacchio LA.
  TITLE     The sequence and analysis of duplication-rich human chromosome 16
  JOURNAL   Nature 432 (7020), 988-994 (2004)
   PUBMED   15616553
REFERENCE   7  (bases 1 to 2803)
  AUTHORS   Bermudez VP, Maniwa Y, Tappin I, Ozato K, Yokomori K and Hurwitz J.
  TITLE     The alternative Ctf18-Dcc1-Ctf8-replication factor C complex
            required for sister chromatid cohesion loads proliferating cell
            nuclear antigen onto DNA
  JOURNAL   Proc Natl Acad Sci U S A 100 (18), 10237-10242 (2003)
   PUBMED   12930902
REFERENCE   8  (bases 1 to 2803)
  AUTHORS   Merkle CJ, Karnitz LM, Henry-Sanchez JT and Chen J.
  TITLE     Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human
            homologs of a Saccharomyces cerevisiae complex involved in sister
            chromatid cohesion establishment
  JOURNAL   J Biol Chem 278 (32), 30051-30056 (2003)
   PUBMED   12766176
REFERENCE   9  (bases 1 to 2803)
  AUTHORS   Sun M, Ma L, Xu L, Li J, Zhang W, Petrovics G, Makarem M, Sesterhenn
            I, Zhang M, Blanchette-Mackie EJ, Moul J, Srivastava S and Zou Z.
  TITLE     A human novel gene DERPC on 16q22.1 inhibits prostate tumor cell
            growth and its expression is decreased in prostate and renal tumors
  JOURNAL   Mol Med 8 (10), 655-663 (2002)
   PUBMED   12477976
  REMARK    GeneRIF: decreased expression of DERPC may be implicated in
            tumorigenesis of prostate and renal tumors
REFERENCE   10  (bases 1 to 2803)
  AUTHORS   Mayer ML, Gygi SP, Aebersold R and Hieter P.
  TITLE     Identification of RFC(Ctf18p, Ctf8p, Dcc1p): an alternative RFC
            complex required for sister chromatid cohesion in S. cerevisiae
  JOURNAL   Mol Cell 7 (5), 959-970 (2001)
   PUBMED   11389843
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853564.11022.1,
            SRR18074969.1682743.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2155770,
            SAMEA2156266 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000519520.7/ ENSP00000427718.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009027.10.
            On Aug 14, 2020 this sequence version replaced NM_001002847.3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..2803
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..2803
                     /gene="DERPC"
                     /note="DERPC proline and glycine rich nuclear protein"
                     /db_xref="GeneID:113455421"
                     /db_xref="HGNC:HGNC:54084"
     misc_feature    274..276
                     /gene="DERPC"
                     /note="upstream in-frame stop codon"
     CDS             385..1959
                     /gene="DERPC"
                     /note="isoform 1 is encoded by transcript variant 4;
                     decreased expression in renal and prostate cancer protein;
                     Protein DERPC; chromosome transmission fidelity protein 8
                     homolog"
                     /codon_start=1
                     /product="decreased expression in renal and prostate cancer
                     protein isoform 1"
                     /protein_id="NP_001002847.1"
                     /db_xref="CCDS:CCDS92188.1"
                     /db_xref="GeneID:113455421"
                     /db_xref="HGNC:HGNC:54084"
                     /translation="MKEPRIFPRERPTPWTRAPLPPRGRLDGSLGPQGGPVLNTGHPLG
                     VNSDPFLMAAGSLGGNLTPFPRNPSPFPASSGSLASNPAPFPAGARDPSMASFPRGMNP
                     TGTGAVSFPRPGGLLGPGPGPGPTLNPRTGALPGPGPLSNPRLGGLPGPGPMSNPRAGG
                     LLGAGPDPRGGGPMGPGSGPNLRAGVLLTSGNGPPNPRPVGLGPGPNPNLRSGFLGTNP
                     APRSGVFPGPGLGPNPRPSGLGPGPNLDARAGGLLGTGSGLNLRMAGPQGLDLAPILRA
                     AGLLGANSASFSQASGNMGTSPSSMARVPGPMGPNSGPSSRGIGLPGPNPSPMSRAPGP
                     IGPNSAHFSRPVGPMGVNANPFPRGAGSSAFSQSSGTLASNPATFQRSAGLQGSNPTIF
                     PRASGPLGPNPANFPRATGLQGPSPTTFPRSTGPLGPGQVTFPRPAAGHLGPSPAGPVG
                     INPAPFTRPTGTLGLNPASFPRMNGPAGKSFVPFPRVGSLPGTNPAAFPRPGGPMAAMY
                     PNGMLPP"
     misc_feature    385..513
                     /gene="DERPC"
                     /note="propagated from UniProtKB/Swiss-Prot (P0CG12.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    574..1140
                     /gene="DERPC"
                     /note="propagated from UniProtKB/Swiss-Prot (P0CG12.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1288..1290
                     /gene="DERPC"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P0CG12.1); phosphorylation site"
     misc_feature    1318..1380
                     /gene="DERPC"
                     /note="propagated from UniProtKB/Swiss-Prot (P0CG12.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1474..1476
                     /gene="DERPC"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:P0CG14; propagated from
                     UniProtKB/Swiss-Prot (P0CG12.1); methylation site"
     misc_feature    1543..1545
                     /gene="DERPC"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P0CG14; propagated from
                     UniProtKB/Swiss-Prot (P0CG12.1); methylation site"
     misc_feature    1651..1653
                     /gene="DERPC"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P0CG12.1); phosphorylation site"
     regulatory      2784..2789
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DERPC"
                     /note="hexamer: AATAAA"
     polyA_site      2803
                     /gene="DERPC"
                     /note="major polyA site"
ORIGIN
        1 agtcggaagt gcgcaggcag tgctcgcggc ggcggcgacg gcggcgggag gttcggttgt
       61 cgcccgttgg ccgcgcggcg ccgcgctcgg cggccgccat tgcagcttgt tttcacttgc
      121 tttttaaaga cagaaagctc atggtgcaaa ttgttatttc cagggaatcc ctgtgctgat
      181 cgtggggcat catatcctgt atgggaaaat catccacctg gagaaacctt ttgcagtcct
      241 tgtcaaacac actcctgggg atcaggactg tgatgagctt ggccgcgaga ctggcacccg
      301 gtacctggtg acagcactca tcaaagacaa gatccttttc aaaacccgcc ccaagcccat
      361 tatcaccagc gtccccaaga aagtatgaaa gaacctcgga ttttccctag agagcggcca
      421 actccttgga ctcgtgctcc gctgccacct cgaggacggc tcgacggttc cctgggacca
      481 caggggggtc ctgttctgaa cacaggccac ccactgggtg tgaactcgga tcccttcctt
      541 atggcggccg gttctcttgg tggaaatctg accccatttc caaggaaccc atctcctttt
      601 ccagcttcat caggctcatt ggcttcaaat ccagcacctt tcccggctgg tgctcgtgac
      661 ccaagtatgg cttcttttcc aagagggatg aatcccactg gcacaggtgc agtttctttc
      721 ccaaggcctg gtggcctctt ggggccaggc ccaggcccag gccccaccct aaaccctagg
      781 acaggggctc tgccaggccc agggcctctg tctaacccca ggttaggggg tctcccagga
      841 ccaggtccta tgtccaaccc aagggcaggt ggtctcctgg gagcaggtcc tgaccccaga
      901 ggtggtggtc ccatgggccc tggatctgga cctaacctga gagccggtgt tctgttaacc
      961 tctgggaatg gtcctcccaa tcctaggcca gttggcctgg gcccaggacc aaaccccaat
     1021 ctgagatcag gctttttagg gacaaaccct gcccccaggt caggtgtgtt tccaggccca
     1081 ggccttgggc ccaacccaag accaagtggc ctgggcccag gccctaatct agatgccaga
     1141 gcaggtggcc tcttgggcac aggatctggt cttaacttaa gaatggctgg acctcaaggc
     1201 ctcgatcttg cccccattct aagagcagca ggtcttttag gagcaaattc agcttctttc
     1261 tcacaggctt ctggaaacat gggcacaagc ccatcctcca tggcaagagt acctggcccc
     1321 atgggcccaa actcgggtcc tagctctcgg ggaattggcc ttccagggcc aaatccatct
     1381 cccatgtcaa gggctcctgg ccccataggc cctaattcag ctcatttctc aaggccagtt
     1441 ggccccatgg gggtaaatgc caatcccttt cccaggggag caggttcatc tgccttttct
     1501 cagtcttctg gcacattggc atcaaaccca gctaccttcc aaaggtccgc tggcctccag
     1561 ggctcaaatc caaccatttt cccaagagcc tctgggccac ttggccccaa cccagctaac
     1621 ttcccaaggg ccactggcct gcagggtcca agtccaacta ccttcccaag gtctactggc
     1681 ccattaggcc ctggtcaagt tactttcccc aggccagctg ccgggcatct gggcccttct
     1741 ccagctggcc ctgtgggtat caacccagct cctttcacaa ggccaactgg gaccctgggt
     1801 ctcaacccag cttcctttcc aaggatgaat ggccctgcag gcaagagttt cgtcccattt
     1861 cctagagtgg ggagcctccc tggcacaaac ccagctgctt tccccagacc agggggtcca
     1921 atggctgcaa tgtacccaaa tggaatgttg cccccttaaa caccattttc cctccaggac
     1981 caccttggtt tctaggcact gtggttcttg gcaggggctg tcttaggtaa aagggtagtt
     2041 gtggagctac agtctgaaga acatagcttg ggctcaagtt caaatgagcc atctttttcc
     2101 tttgcgtttt tcttgactga aggtgagatg ttatttgtgg catgtgaact gtggcaggtg
     2161 ggaataatcc tgcccttgag agaaaggatc tccagcctcc cagaagcctg ctgtgctttc
     2221 gtcccacagc tttctgccca ttgtttctta ctagtttctt gaattgttct tgtggacttt
     2281 tcctcaggga tacattggcc tgcaggtccc agttcacatg tagtcccctg ctcaccattg
     2341 gagaatcagc tcactgctct ctagaaacgt ggcgttggtg aacggaccat gcttccgtag
     2401 ctctgacctg ggcagcttgg acctggtcat cctctactgc catacctttc cctgggggct
     2461 tgaacacaga acagggagat ggacaaccac ttcaaagaaa gacccaccga atgcagtttc
     2521 tgcttgactg actgggcctg cagctccctt ctcctgggac ttagaggtgg ccagatttaa
     2581 ggcccctcta ctcatccaac tccctcttca ctggtactcc caatcaatca aagaacctca
     2641 aaatttaaac tgatgtggat gggaatatgg gaattagggt gggggtgggg gatgaaggga
     2701 agaaatcact gtgctttgtt cggcctggtg tgcaaggatg gttggtggtt ttcctgcatt
     2761 gtatcttttc ttactgtttc tttaataaat gggatgagag ggc
//
LOCUS       NM_001002860            8445 bp    mRNA    linear   PRI 20-APR-2023
DEFINITION  Homo sapiens BTB domain containing 7 (BTBD7), transcript variant 1,
            mRNA.
ACCESSION   NM_001002860
VERSION     NM_001002860.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8445)
  AUTHORS   Liu Y, Song J, Gu J, Xu S, Wang X and Liu Y.
  TITLE     The Role of BTBD7 in Normal Development and Tumor Progression
  JOURNAL   Technol Cancer Res Treat 22, 15330338231167732 (2023)
   PUBMED   37050886
  REMARK    GeneRIF: The Role of BTBD7 in Normal Development and Tumor
            Progression. Review article
REFERENCE   2  (bases 1 to 8445)
  AUTHORS   Wang B, Wang Y, Wang X, Gu J, Wu W, Wu H, Wang Q and Zhou D.
  TITLE     Extracellular Vesicles Carrying miR-887-3p Promote Breast Cancer
            Cell Drug Resistance by Targeting BTBD7 and Activating the
            Notch1/Hes1 Signaling Pathway
  JOURNAL   Dis Markers 2022, 5762686 (2022)
   PUBMED   35655918
  REMARK    GeneRIF: Extracellular Vesicles Carrying miR-887-3p Promote Breast
            Cancer Cell Drug Resistance by Targeting BTBD7 and Activating the
            Notch1/Hes1 Signaling Pathway. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 8445)
  AUTHORS   Chen J, Lai YH, Ooi S, Song Y, Li L and Liu TY.
  TITLE     BTB domain-containing 7 predicts low recurrence and suppresses tumor
            progression by deactivating Notch1 signaling in breast cancer
  JOURNAL   Breast Cancer Res Treat 184 (2), 287-300 (2020)
   PUBMED   32772271
  REMARK    GeneRIF: BTB domain-containing 7 predicts low recurrence and
            suppresses tumor progression by deactivating Notch1 signaling in
            breast cancer.
REFERENCE   4  (bases 1 to 8445)
  AUTHORS   Shu J, Wang L, Han F, Chen Y, Wang S and Luo F.
  TITLE     BTBD7 Downregulates E-Cadherin and Promotes Epithelial-Mesenchymal
            Transition in Lung Cancer
  JOURNAL   Biomed Res Int 2019, 5937635 (2019)
   PUBMED   31886230
  REMARK    GeneRIF: Studied the role of BTB domain containing 7 (BTBD7) in
            regulation of E-Cadherin in the development of lung cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 8445)
  AUTHORS   Grisard E, Coan M, Cesaratto L, Rigo I, Zandona L, Paulitti A,
            Andreuzzi E, Rampioni Vinciguerra GL, Poletto E, Del Ben F, Brisotto
            G, Biscontin E, Turetta M, Dassi E, Mirnezami A, Canzonieri V,
            Vecchione A, Baldassarre G, Mongiat M, Spizzo R and Nicoloso MS.
  TITLE     Sleeping beauty genetic screen identifies miR-23b::BTBD7 gene
            interaction as crucial for colorectal cancer metastasis
  JOURNAL   EBioMedicine 46, 79-93 (2019)
   PUBMED   31303496
  REMARK    GeneRIF: our data indicate that detection of high miR-23b and Btbd7
            levels in the primary tumor of CRC patients can be correlated with
            the development of cancer metastasis and thus patients with these
            biological features should be treated more aggressively and have
            closer follow-ups.
REFERENCE   6  (bases 1 to 8445)
  AUTHORS   Fang,L.Z., Zhang,J.Q., Liu,L., Fu,W.P., Shu,J.K., Feng,J.G. and
            Liang,X.
  TITLE     Silencing of Btbd7 Inhibited Epithelial-Mesenchymal Transition and
            Chemoresistance in CD133+ Lung Carcinoma A549 Cells
  JOURNAL   Oncol Res 25 (5), 819-829 (2017)
   PUBMED   27983936
  REMARK    GeneRIF: Silencing of Btbd7 significantly inhibited the self-renewal
            and EMT process in CD133+ cells. we found that downregulation of
            Btbd7 promoted cell apoptosis and increased the sensitivity to
            paclitaxel in CD133+ and parental cells.
REFERENCE   7  (bases 1 to 8445)
  AUTHORS   Yang L, Wang T, Zhang J, Liu Z and Wang X.
  TITLE     Expression of BTBD7 in primary salivary adenoid cystic carcinoma and
            correlation with Slug and prognosis
  JOURNAL   Cancer Biomark 17 (2), 179-185 (2016)
   PUBMED   27540976
  REMARK    GeneRIF: BTBD7 expression was significantly correlated with Slug
            expression in SACC (P< 0.05). Increased BTBD7 expression was
            significantly associated with the TNM stage, tissue typing, distant
            metastasis and patients' poor clinical outcome.
REFERENCE   8  (bases 1 to 8445)
  AUTHORS   Fan C, Miao Y, Zhang X, Liu D, Jiang G, Lin X, Han Q, Luan L, Xu Z
            and Wang E.
  TITLE     Btbd7 contributes to reduced E-cadherin expression and predicts poor
            prognosis in non-small cell lung cancer
  JOURNAL   BMC Cancer 14, 704 (2014)
   PUBMED   25253020
  REMARK    GeneRIF: Btbd7 contributes to reduced expression of E-cadherin and
            may be a promising cancer marker in non-small cell lung cancer.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 8445)
  AUTHORS   Tao YM, Huang JL, Zeng S, Zhang S, Fan XG, Wang ZM, Yang HX, Yuan
            XH, Wang P, Wu F, Luo J, Zeng DY and Shen H.
  TITLE     BTB/POZ domain-containing protein 7: epithelial-mesenchymal
            transition promoter and prognostic biomarker of hepatocellular
            carcinoma
  JOURNAL   Hepatology 57 (6), 2326-2337 (2013)
   PUBMED   23325674
  REMARK    GeneRIF: Cox regression analysis revealed that high BTBD7 expression
            integrated with high microvessel density was a powerful independent
            predictive factor of hepatocellular carcinoma clinical outcome.
REFERENCE   10  (bases 1 to 8445)
  AUTHORS   Pan W, Zhang Q, Xi QS, Gan RB and Li TP.
  TITLE     FUP1, a gene associated with hepatocellular carcinoma, stimulates
            NIH3T3 cell proliferation and tumor formation in nude mice
  JOURNAL   Biochem Biophys Res Commun 286 (5), 1033-1038 (2001)
   PUBMED   11527404
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB040958.2 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000334746.10/ ENSP00000335615.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC047071.1, AB040958.2, AK074354.1 and AL132838.4.
            On Nov 23, 2018 this sequence version replaced NM_001002860.3.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8445
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12"
     gene            1..8445
                     /gene="BTBD7"
                     /gene_synonym="FUP1"
                     /note="BTB domain containing 7"
                     /db_xref="GeneID:55727"
                     /db_xref="HGNC:HGNC:18269"
                     /db_xref="MIM:610386"
     misc_feature    312..314
                     /gene="BTBD7"
                     /gene_synonym="FUP1"
                     /note="upstream in-frame stop codon"
     CDS             324..3722
                     /gene="BTBD7"
                     /gene_synonym="FUP1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     BTB/POZ domain-containing protein 7; BTB (POZ) domain
                     containing 7"
                     /codon_start=1
                     /product="BTB/POZ domain-containing protein 7 isoform 1"
                     /protein_id="NP_001002860.2"
                     /db_xref="CCDS:CCDS32146.1"
                     /db_xref="GeneID:55727"
                     /db_xref="HGNC:HGNC:18269"
                     /db_xref="MIM:610386"
                     /translation="MGANASNYPHSCSPRVGGNSQAQQTFIGTSSYSQQGYGCESKLYS
                     LDHGHEKPQDKKKRTSGLATLKKKFIKRRKSNRSADHAKQMRELLSGWDVRDVNALVEE
                     YEGTSALKELSLQASLARPEARTLQKDMADLYEYKYCTDVDLIFQETCFPVHRAILAAR
                     CPFFKTLLSSSPEYGAEIIMDINTAGIDMPMFSALLHYLYTGEFGMEDSRFQNVDILVQ
                     LSEEFGTPNSLDVDMRGLFDYMCYYDVVLSFSSDSELVEAFGGNQNCLDEELKAHKAVI
                     SARSPFFRNLLQRRIRTGEEITDRTLRTPTRIILDESIIPKKYATVILHCMYTDVVDLS
                     VLHCSPSVGSLSEVQALVAGKPNMTRAEEAMELYHIALFLEFNMLAQGCEDIIAESISL
                     DTLIAILKWSSHPYGSKWVHRQALHFLCEEFSQVMTSDVFYELSKDHLLTAIQSDYLQA
                     SEQDILKYLIKWGEHQLMKRIADREPNLLSGTAHSVNKRGVKRRDLDMEELREILSSLL
                     PFVRIEHILPINSEVLSDAMKRGLISTPPSDMLPTTEGGKSNAWLRQKNAGIYVRPRLF
                     SPYVEEAKSVLDEMMVEQTDLVRLRMVRMSNVPDTLYMVNNAVPQCCHMISHQQISSNQ
                     SSPPSVVANEIPVPRLLIMKDMVRRLQELRHTEQVQRAYALNCGEGATVSYEIQIRVLR
                     EFGLADAAAELLQNPHKFFPDERFGDESPLLTMRQPGRCRVNSTPPAETMFTDLDSFVA
                     FHPPLPPPPPPYHPPATPIHNQLKAGWKQRPPSQHPSRSFSYPCNHSLFHSRTAPKAGP
                     PPVYLPSVKAAPPDCTSTAGLGRQTVAAAAATTTSTATAAAAAASEKQVRTQPVLNDLM
                     PDIAVGVSTLSLKDRRLPELAVDTELSQSVSEAGPGPPQHLSCIPQRHTHTSRKKHTLE
                     QKTDTRENPQEYPDFYDFSNAACRPSTPALSRRTPSPSQGGYFGPDLYSHNKASPSGLK
                     SAYLPGQTSPKKQEEARREYPLSPDGHLHRQKNEPIHLDVVEQPPQRSDFPLAAPENAS
                     TGPAHVRGRTAVETDLTFGLTPNRPSLSACSSEAPEERSGRRLADSESLGHGAQRNTDL
                     EREDSISRGRRSPSKPDFLYKKSAL"
     misc_feature    324..395
                     /gene="BTBD7"
                     /gene_synonym="FUP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P203.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2487..2489
                     /gene="BTBD7"
                     /gene_synonym="FUP1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P203.3); phosphorylation site"
     misc_feature    3012..3380
                     /gene="BTBD7"
                     /gene_synonym="FUP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P203.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3357..3359
                     /gene="BTBD7"
                     /gene_synonym="FUP1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P203.3); phosphorylation site"
     misc_feature    3426..3719
                     /gene="BTBD7"
                     /gene_synonym="FUP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P203.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      8426..8431
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTBD7"
                     /gene_synonym="FUP1"
                     /note="hexamer: AATAAA"
     polyA_site      8445
                     /gene="BTBD7"
                     /gene_synonym="FUP1"
                     /note="major polyA site"
ORIGIN
        1 ctgctccgtc taggagtcaa aatggcggcg aggggaacct ggagcagtcc cggagcctga
       61 gccactgaca ggagaggaga gggcggcggc ggcggcggtg ggaggaggat ggccgggggt
      121 gctggcgccg gtgcggacgg cggtgctggt ggcggcggcg gcggaggcga cggcagcggt
      181 cccagcggca gcagcagcgg cgggaggagc ctccgggaaa tggatgaaaa gaggctgctg
      241 gatccagggt tgaaggttca taaaggcctc tgggattata ctctgaagaa cccgcagacg
      301 gaatgcctga gtgactgaag aaaatgggtg ctaatgcatc taattatcct cattcatgtt
      361 ccccgagggt agggggaaat tcacaggccc aacagacttt tatagggacc tcatcctatt
      421 ctcagcaagg ctatggttgc gaatcaaagt tgtatagcct tgaccatggc catgagaaac
      481 cacaagacaa aaaaaagaga acctctggtc ttgccaccct caaaaagaag tttattaagc
      541 gtcggaaatc taataggtct gccgatcatg ccaagcagat gcgagaactc ctctctgggt
      601 gggatgttag agatgtcaat gcattagtgg aggaatatga gggaacatca gcattaaagg
      661 agctttctct acaagccagt ttggctagac cagaagcccg gacattgcag aaagatatgg
      721 ctgatcttta tgagtacaag tattgtactg atgtagactt aatatttcaa gaaacttgtt
      781 ttcctgttca tcgtgccatt ttggcagcaa ggtgtccatt ttttaaaaca ctgctttctt
      841 cctcaccaga gtatggggca gagataataa tggacatcaa tacagctggt attgatatgc
      901 ccatgttttc tgctttgtta cactaccttt atacaggaga gtttggaatg gaggactcaa
      961 ggtttcaaaa tgtcgatatc cttgttcagc ttagtgaaga atttggaaca ccaaattccc
     1021 ttgatgtaga tatgcgtgga ctctttgatt acatgtgtta ttatgatgtc gtccttagtt
     1081 tttcttcaga ctctgaactg gttgaagctt ttggtggaaa tcagaactgt ttagatgaag
     1141 agctcaaagc ccacaaggct gttatttctg cacggtcccc attttttcga aatttattac
     1201 aaaggaggat acgaactggt gaagaaatca cagaccgaac tttgaggact cccacaagaa
     1261 ttatattaga tgagtccatt ataccaaaaa aatatgcaac agtgatatta cactgtatgt
     1321 ataccgacgt ggtggacctc tctgttttgc actgtagccc ctctgtgggg agtctcagtg
     1381 aagttcaggc tctcgtcgca gggaagccaa acatgaccag ggcagaagaa gccatggaac
     1441 tttaccacat agcactgttc ttggaattta acatgcttgc acaaggctgt gaggatatca
     1501 ttgctgagag catctcatta gataccttaa ttgccatcct caagtggagt tctcatccat
     1561 atggctctaa atgggtgcac cgacaagctt tacatttcct ctgtgaggaa ttttcccagg
     1621 tcatgacttc ggatgttttt tatgaactca gcaaagacca tctgcttact gctatccagt
     1681 ctgactacct acaggcaagt gaacaagata tccttaaata tctgattaaa tggggagagc
     1741 atcagttgat gaaaagaata gcagatagag agccaaactt actgagtggc actgcccata
     1801 gtgtgaacaa aagaggtgta aaaagacggg acctggacat ggaagagctc agagagatcc
     1861 tttcttctct cttacctttt gtgcgaattg aacacatctt acctataaac agtgaagtct
     1921 taagtgatgc aatgaaaaga ggcttgatta gtactcctcc atcagatatg cttcctacaa
     1981 cagaaggtgg gaagtcaaat gcctggttac ggcaaaaaaa tgctggcatc tatgttcgtc
     2041 ctcgactctt ctctccctat gtggaagaag caaagtcagt gctagatgag atgatggtgg
     2101 aacaaacgga tcttgtgcgc ttgcgaatgg ttagaatgtc caatgtgcca gacacgctct
     2161 acatggtcaa taatgccgtg ccacagtgtt gtcacatgat cagccaccag cagatcagca
     2221 gcaaccagtc aagccctcct tcagttgtag ccaacgaaat tccagttcct cgtctcctca
     2281 ttatgaaaga catggtcaga cgactgcagg aactgcggca cacggagcag gtgcagaggg
     2341 cctatgccct gaactgcggg gaaggcgcca ctgtcagcta tgaaattcag attcgagtgc
     2401 taagagagtt tggtcttgca gatgctgctg cagagctgtt gcagaatcct cacaaattct
     2461 ttcctgatga acgttttggg gatgaaagtc cactcttgac aatgagacag cctgggagat
     2521 gtcgcgtaaa cagtacacct cctgcagaaa ccatgtttac agatctggac tcttttgtgg
     2581 ccttccatcc acccttgccc cctccaccac ctccctacca ccccccagct accccaatcc
     2641 ataaccaact caaagcaggc tggaagcaaa gacctcccag tcagcaccct tcacgttcat
     2701 tttcttatcc ctgtaatcat tcgctgttcc actccagaac agctcctaaa gctggccctc
     2761 ccccagtcta cttgccgagt gtgaaagctg caccgcctga ttgtaccagc actgcaggac
     2821 tgggcagaca gacggtggct gctgctgccg ccaccaccac ctcaacagca acagcagcag
     2881 cagcagcagc atctgagaag caagtgcgaa cacaacctgt gctgaatgat ctgatgccag
     2941 acatcgcggt gggtgtgtcc acactgtcac tcaaggacag gaggcttcca gagcttgctg
     3001 tagacacaga attaagccag tcagtttctg aagcaggacc agggcctccc cagcatctgt
     3061 cgtgtattcc acagagacat acacacactt ctcggaaaaa acacacacta gagcaaaaaa
     3121 cagacaccag agaaaatcca caggaatatc cggatttcta tgacttctca aatgctgctt
     3181 gcagaccttc tactcctgct ctcagcagac gcaccccttc cccttcgcaa ggtggatatt
     3241 ttggtcccga tctgtacagc cacaataagg catcaccaag tggcttaaag tcagcctacc
     3301 tacctggtca gacgtctcct aaaaaacagg aagaagctag gagagaatat ccactttccc
     3361 ctgacgggca tctacacaga caaaagaatg agccgataca cctggatgtc gttgagcaac
     3421 ctccccagcg gtcagacttt cctttggcag ccccagaaaa tgctagtacc ggtccagccc
     3481 atgtcagggg acgaactgca gtagaaactg acttgacttt tgggctgact cctaacagac
     3541 cttcactttc tgcatgtagc tctgaagctc ccgaagagag atccggtaga agactggcag
     3601 acagtgagtc cctgggccat ggagctcaga gaaatacaga tttggaaagg gaagattcaa
     3661 taagcagagg aaggaggtca ccaagcaagc cggacttcct ctacaaaaag tctgccctct
     3721 gagagcaacc tccaagtcgt ctgtgcctga gatgtgaaac atcccatttt atgatgtaac
     3781 ccaacaactt acagaccagt tcatcaatgc cagctgataa ctcggtttca catgattttg
     3841 ttctagtttt tgtgtatata tgtgtttatt agacatggca tgctaagaag gttttgtttt
     3901 ttttttttaa tgttgcatct gtctaatttg tctttgaaca attatgtcgg gaggcatttt
     3961 taagaacaag caggctggca ctttttattt ctctttacaa atgatggaat ttttttgcac
     4021 ttgtacattt attttctctg tattgatttt atatcagtat gttaaacttt attgccacat
     4081 ttaaaggact gtattttcat acttttttgc attttacctt tcatctacca atccatgtgc
     4141 attggattgc acactaagat gtattttctt acgaaatagt tctgtgttta ttttttaatt
     4201 atagaaattc caaagaacag cacatcagaa tgctcctctc ttttcagtaa ttgttttagt
     4261 tcagagatct tcccgctcag cctccataaa tctaatgtca tttttttttt aataagtcct
     4321 aggagctggg cttcattcct ccagcgggag tccagtcagg gtcctgaagt ttgctggttc
     4381 aggaaagaac aggaaagaga aaagccttct gtgcccaggc taaagctgtt acatttccac
     4441 agtgtggatg cagtcagaat ccctgcacat tctggtcata aggattagag tcaccagatg
     4501 aggctctaaa cagatcgcat cccttggaat tagaaagcag tggagaccgg gcgcagtgac
     4561 tcacacctgt gatcggcact tcggaaggcc gaggcgggca gatcactgaa gctcaggagt
     4621 tcaagaccag cctgggcaac atggcgaaac tccatttcta taaaaaatac aaaaaaaaaa
     4681 aaatctagcc aggcgtggtg gtgcgtgcct gtagtcccag ctacttgggg ggctgaggtg
     4741 gcaggatcgc ttgagcctgg gaggttgaga ctgcagtgag ccaagattgc accactgtgc
     4801 tcccacctgg gcaacagtga gaccctgtct caaaaaaaaa aaaaaaggca gtggaaatag
     4861 agaagtaact taaaggtcac actgacagaa tttctggttc tgagcgtcaa ctctccagct
     4921 gtgatggcgg aactgactgc ttgctgcctt taattgtctt gctctctatg ggaaaaaaac
     4981 aaaagggctt cagtctcatg gatgttattt ggtgtttgta aagatacgtt ttcttttaaa
     5041 cgattttcaa aatatgtcta aattttggtg ttgtgtaatg cataatgctt tctcaccaac
     5101 agaaaaaagg aaaaaaattg ttttcagtta aacactacat gtcctacttg aactccactg
     5161 ggacgctggt ttggcattta ctaaaccact gagcacatgg ggtctttcag gatcctctcc
     5221 cttggaaggg caatgtgtga gctaaggact gttttttttc ttactctcca atgtaaatat
     5281 atgagtattt gagtttttaa atcacttcaa cattatttga gcatttactt tgtattttta
     5341 caaacacata aacacacagc cgtagcactt agaagaaaag aggctttcta agcattcctt
     5401 cctctgcagg atatttggga tcctcttttc tatgtatgta tatatataaa aaactatgaa
     5461 tcactcacac tcactcgaaa actatgcagg gctagggagc gtttatgagc taccgggtaa
     5521 atgaattaca tgcactttga agtaaatagg ttttctattg ggtgtcaaca acgctgattt
     5581 ctcccaaaac tatagtttct cttacggtct tttcctcctt taccctgtgg atatacactc
     5641 aggaataatc tgacatttta gaaaagccga acagtagata gtctccaaga tgggaaacat
     5701 gtcgtgtgtc tgcacgcccc ggcaaactgc cgccactcgt tctgctgcct gactggttag
     5761 ctgctgtgcg ggtgcgctcg gtgacactgg tggtggtgca cgctcccgag ctcccagagt
     5821 taacactaat ctgcaggtcg gctgtgcatc gcattcgagg ctcctttttt aaagagaaaa
     5881 gcataggcct ctgttctcat ttgtaagaag tttgactcat aatagaagac ggtgtctttt
     5941 gaagcccagt ctctgtctgt cttcagaaac aaaagtgaat gccgtcatgt tccttgatgt
     6001 gtgtttctgc cacatatgta tgttgacatg ttcatgtact gcgccggtac tgcaagtaag
     6061 actcaacaga cctaatttgg atggggagaa aaactctcat ccctgaccct tccccccccg
     6121 caaatgttag accagagctg ttgatcccac acattcattt ttctgaaaat tcatgaacta
     6181 ttctctcata tccctgaaat ataaaagtaa gtggccacta ttcctaagat tatttagttt
     6241 ataaagtttg cttttaatca tacaatagct tacctggcta aaactttgcg tataaaggga
     6301 aaacttgctt taatctgtgg gattgcggac cgatgcgact tgcagaaggt aaacaggcgt
     6361 gggttttgtg tgcgttaggt taggtgttag tggactttta atgtatcttg tgaagtatgg
     6421 ttactagggt aggttcaaga gctacatgcc tctggctttt gaacccatct attaaatctt
     6481 ttttaatgct gtactaagat aaatgtgaag tctgagtaag gttgctctca gaaaaaaaaa
     6541 aaaagcatat atatatataa aataaaattt aggccatggg aactggcatt ttacttggta
     6601 taggaattta atgagaacca aatcacaaaa ataccagatc tccttttgag atcgtggaca
     6661 atcaggcctt tggacaatca ccgcttccag tgcccgctgt gcgttgaggt tagagaccta
     6721 ccgtttacac gctagagccg agaggacgtt caagtttctt aaagatgctg ttggtctttt
     6781 ttcttatgtt attgttttag ttttgtgatt ttgatgaata attgaagttc agagtcaccc
     6841 gtggctccta aggaaaaaac agcatcatga aaggcaaaaa gtatttgaaa cgtaattgtt
     6901 tcaattttcc acgcccgttc tcacatgccc cctttagctt tatttctggg aacatgtcac
     6961 tagacctcag ctagcctgac accgcaataa cccgttaggc tttgaggctt ttcagtgaat
     7021 tcttgacatt taaatcttct tatagaattc tttatgaagc cttaactaat tcttgttttt
     7081 gcttcctcag aaacttttta ttgcatctgc catccttcat tggatttttg ttttggtttg
     7141 ttgttgccat tctagcaatg agcttagtcc ttgtacatct gcattaaggt gccgatgcag
     7201 aaggcaaatt ggaaacacgc gccagcggca gtggggctca aagccgacct ccatgcatca
     7261 ttctctagag ttgaaaggat tgacatttct cagtaactac ccggcaaaat atatattttc
     7321 ataatgttga atttgccttt taggaaaaca atgtttcatg aaacacttgt aagatactta
     7381 ttttgaaatt aattataagg cattcatatt tttaggactg aattcaaagg gaaatgcttc
     7441 tttgactttt tttcattgtt cggttgactt tcagctttct ggagtgacaa agcagcagtg
     7501 atgggtgcta ttcctggttc tgtggtggtt tactttgtct actaagtgat ttactttcaa
     7561 acctcattac agataatctt actaaaagac ttaacatgca cactgctaaa aggtgtttta
     7621 ctgttttcca ttaacgctgt tgtatgaaca atatttggtg acatgttgtc tttttgtcct
     7681 gtagattgtc atatctgtta tgtagttatc cttttggcaa gtcctttgat ttttttttcc
     7741 tctagaaaat cctcagactg tcaatcttcc atattttgaa tattataatg ctgtggccat
     7801 ttctatagaa agattacttg caagtgtgtg tcttgaaaat aacctcttgt atttgtgtgt
     7861 ttatgtgagt tctgtctaag agatcagata agctctggaa gcttcatcat ctgtacctac
     7921 atgtaactgt atctgggtta catgggcagg cggtaccaag tcctgctctt cgatggggtg
     7981 gctgagagat aaaggttcct gaactctcct tgctgtgtat gcaccacatc tgtacttcag
     8041 agaggtggaa aatcatctac aacactgcgt ttcttgtggt tgtgctgtta ctggtataaa
     8101 gtcaagtgcc ttcaatgcta aaggctcaga aatttttctt aaactgattt catgtcctat
     8161 gcaagtgttt tctacaacct gcataaccag tactttgtaa aacttgttta cgcttcaatt
     8221 gtacatagtg atttttaaag aaatatatag tatttttatt taggtacctc caaacttgaa
     8281 ttcgtctgtg tgaagcattg taaaacgata catttctctt ttgagtacca ttacagttgt
     8341 acagaggttt tcactgcttc tatttttcta ctgttactga taagcatgta acactgactt
     8401 tatcctacat atagttggca tttcaaataa atggcttgta tagaa
//
LOCUS       NM_001002862            3093 bp    mRNA    linear   PRI 08-JAN-2023
DEFINITION  Homo sapiens derlin 3 (DERL3), transcript variant 2, mRNA.
ACCESSION   NM_001002862
VERSION     NM_001002862.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3093)
  AUTHORS   Kondo S, Okabe A, Nakagawa T, Matsusaka K, Fukuyo M, Rahmutulla B,
            Dochi H, Mizokami H, Kitagawa Y, Kurokawa T, Mima M, Endo K,
            Sugimoto H, Wakisaka N, Misawa K, Yoshizaki T and Kaneda A.
  TITLE     Repression of DERL3 via DNA methylation by Epstein-Barr virus latent
            membrane protein 1 in nasopharyngeal carcinoma
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1869 (2), 166598 (2023)
   PUBMED   36372158
  REMARK    GeneRIF: Repression of DERL3 via DNA methylation by Epstein-Barr
            virus latent membrane protein 1 in nasopharyngeal carcinoma.
REFERENCE   2  (bases 1 to 3093)
  AUTHORS   Geng M, Xu K, Meng L, Xu J, Jiang C, Guo Y, Ren X, Li X, Peng Y,
            Wang S, Huang F, Zhang J, Wang X, Zhu W and Lu S.
  TITLE     Up-regulated DERL3 in fibroblast-like synoviocytes exacerbates
            inflammation of rheumatoid arthritis
  JOURNAL   Clin Immunol 220, 108579 (2020)
   PUBMED   32866644
  REMARK    GeneRIF: Up-regulated DERL3 in fibroblast-like synoviocytes
            exacerbates inflammation of rheumatoid arthritis.
REFERENCE   3  (bases 1 to 3093)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3093)
  AUTHORS   Li Y, Liu H, Chen H, Shao J, Su F, Zhang S, Cai X and He X.
  TITLE     DERL3 functions as a tumor suppressor in gastric cancer
  JOURNAL   Comput Biol Chem 84, 107172 (2020)
   PUBMED   31862624
  REMARK    GeneRIF: DERL3 is both a tumor suppressor of and a methylation
            biomarker for gastric cancer.
REFERENCE   5  (bases 1 to 3093)
  AUTHORS   Shibata M, Kanda M, Tanaka H, Umeda S, Miwa T, Shimizu D, Hayashi M,
            Inaishi T, Miyajima N, Adachi Y, Takano Y, Nakanishi K, Takeuchi D,
            Noda S, Kodera Y and Kikumori T.
  TITLE     Overexpression of Derlin 3 is associated with malignant phenotype of
            breast cancer cells
  JOURNAL   Oncol Rep 38 (3), 1760-1766 (2017)
   PUBMED   28713959
  REMARK    GeneRIF: DERL3 promotes malignant phenotype in BC cells.
REFERENCE   6  (bases 1 to 3093)
  AUTHORS   Oda Y, Okada T, Yoshida H, Kaufman RJ, Nagata K and Mori K.
  TITLE     Derlin-2 and Derlin-3 are regulated by the mammalian unfolded
            protein response and are required for ER-associated degradation
  JOURNAL   J Cell Biol 172 (3), 383-393 (2006)
   PUBMED   16449189
  REMARK    GeneRIF: Findings indicate that Derlin-3 provides the missing link
            between EDEM and p97 in the process of degrading misfolded
            glycoproteins.
REFERENCE   7  (bases 1 to 3093)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   8  (bases 1 to 3093)
  AUTHORS   Lilley BN and Ploegh HL.
  TITLE     A membrane protein required for dislocation of misfolded proteins
            from the ER
  JOURNAL   Nature 429 (6994), 834-840 (2004)
   PUBMED   15215855
REFERENCE   9  (bases 1 to 3093)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   10  (bases 1 to 3093)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP,
            Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird
            CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien
            KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CB996137.1, CB960259.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000318109.12/ ENSP00000315303.8
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL389876.1, BC057830.1,
            AK092582.1, AP000350.1 and CA313370.1.
            On Jun 2, 2019 this sequence version replaced NM_001002862.2.
            Summary: The protein encoded by this gene belongs to the derlin
            family, and resides in the endoplasmic reticulum (ER). Proteins
            that are unfolded or misfolded in the ER must be refolded or
            degraded to maintain the homeostasis of the ER. This protein
            appears to be involved in the degradation of misfolded
            glycoproteins in the ER. Several alternatively spliced transcript
            variants encoding different isoforms have been identified for this
            gene. [provided by RefSeq, Oct 2008].
            Transcript Variant: This variant (2) is alternatively spliced at
            the 3' end compared to transcript variant 1, resulting in a
            slightly shorter isoform (2) with a distinct C-terminus compared to
            isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no quality transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3093
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     gene            1..3093
                     /gene="DERL3"
                     /gene_synonym="C22orf14; derlin-3; IZP6; LLN2"
                     /note="derlin 3"
                     /db_xref="GeneID:91319"
                     /db_xref="HGNC:HGNC:14236"
                     /db_xref="MIM:610305"
     misc_feature    8..10
                     /gene="DERL3"
                     /gene_synonym="C22orf14; derlin-3; IZP6; LLN2"
                     /note="upstream in-frame stop codon"
     CDS             20..727
                     /gene="DERL3"
                     /gene_synonym="C22orf14; derlin-3; IZP6; LLN2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     DERtrin 3; der1-like protein 3; degradation in endoplasmic
                     reticulum protein 3; Der1-like domain family, member 3"
                     /codon_start=1
                     /product="derlin-3 isoform 2"
                     /protein_id="NP_001002862.1"
                     /db_xref="CCDS:CCDS33615.1"
                     /db_xref="GeneID:91319"
                     /db_xref="HGNC:HGNC:14236"
                     /db_xref="MIM:610305"
                     /translation="MAWQGLAAEFLQVPAVTRAYTAACVLTTAAVQLELLSPFQLYFNP
                     HLVFRKFQVWRLVTNFLFFGPLGFSFFFNMLFVFRYCRMLEEGSFRGRTADFVFMFLFG
                     GVLMTLLGLLGSLFFLGQALMAMLVYVWSRRSPRVRVNFFGLLTFQAPFLPWALMGFSL
                     LLGNSILVDLLGIAVGHIYYFLEDVFPNQPGGKRLLQTPGFLKLLLDAPAEDPNYLPLP
                     EEQPGPHLPPPQQ"
     misc_feature    86..148
                     /gene="DERL3"
                     /gene_synonym="C22orf14; derlin-3; IZP6; LLN2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q80.2);
                     transmembrane region"
     misc_feature    194..256
                     /gene="DERL3"
                     /gene_synonym="C22orf14; derlin-3; IZP6; LLN2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q80.2);
                     transmembrane region"
     misc_feature    314..376
                     /gene="DERL3"
                     /gene_synonym="C22orf14; derlin-3; IZP6; LLN2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q80.2);
                     transmembrane region"
     misc_feature    491..553
                     /gene="DERL3"
                     /gene_synonym="C22orf14; derlin-3; IZP6; LLN2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q80.2);
                     transmembrane region"
     misc_feature    665..724
                     /gene="DERL3"
                     /gene_synonym="C22orf14; derlin-3; IZP6; LLN2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q80.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      843..848
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DERL3"
                     /gene_synonym="C22orf14; derlin-3; IZP6; LLN2"
                     /note="hexamer: AATAAA"
     polyA_site      862
                     /gene="DERL3"
                     /gene_synonym="C22orf14; derlin-3; IZP6; LLN2"
                     /note="major polyA site"
     regulatory      3060..3065
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DERL3"
                     /gene_synonym="C22orf14; derlin-3; IZP6; LLN2"
                     /note="hexamer: AAGAAA"
     polyA_site      3093
                     /gene="DERL3"
                     /gene_synonym="C22orf14; derlin-3; IZP6; LLN2"
                     /note="major polyA site"
ORIGIN
        1 gcgtgcttga gaaggttcaa tggcgtggca gggactagcg gccgagttcc tgcaggtgcc
       61 ggcggtgacg cgggcttaca ccgcagcctg tgtcctcacc accgccgcgg tgcagctgga
      121 gctcctcagc ccctttcaac tctacttcaa cccgcacctt gtgttccgga agttccaggt
      181 ctggaggctc gtcaccaact tcctcttctt cgggcccctg ggattcagct tcttcttcaa
      241 catgctcttc gtgttccgct actgccgcat gctggaagag ggctccttcc gcggccgcac
      301 ggccgacttc gtcttcatgt ttctcttcgg gggcgtcctt atgaccctgc tgggactcct
      361 gggcagcctg ttcttcctgg gccaggccct catggccatg ctggtgtacg tgtggagccg
      421 ccgcagccct cgggtgaggg tcaacttctt cggcctgctc actttccagg caccgttcct
      481 gccttgggcg ctcatgggct tctcgctgct gctgggcaac tccatcctcg tggacctgct
      541 ggggattgcg gtgggccata tctactactt cctggaggac gtcttcccca accagcctgg
      601 aggcaagagg ctcctgcaga cccctggctt cctaaagctg ctcctggatg cccctgcaga
      661 agaccccaat tacctgcccc tccctgagga acagccagga ccccatctgc cacccccgca
      721 gcagtgaccc ccacccaggg ccaggcctaa gaggcttctg gcagcttcca tcctacccat
      781 gacccctact tggggcagaa aaaacccatc ctaaaggctg ggcccatgca agggcccacc
      841 tgaataaaca gaatgagctg cagtctcttg gcccacagca ctggcttccc catctcacct
      901 ggccacatcc ttctatgcct gccccgtcct cactcagtgt ggcctctcag cccaactgca
      961 ggtggtagga taggggtgcc cacagagggc aaagaaactg cccatggttg cctggcagag
     1021 ctttgagctc acaggttgcc aggcagagct tttgagctca caggtgacag gctcagggtt
     1081 ctcatcctgg ccccaccagg gccttgggca agtcctgccc accataggcc tctgctacct
     1141 gccagtcagc ggggaagttc accagatttc ggctgctggg gccaggacag gcgtctccta
     1201 ggttgtgcca aaccagccta cagatgttcc tgccagtggt gccttcaggc tgatgccaat
     1261 ctagcctctc ctgtctctca tcagccaccc tgacaggtgg gcgtatgcct catttttcat
     1321 ctggtgatgc caaagcccca tggattcagg tgcagaagag ggccaggact aggtcttctg
     1381 ccctttctat gacctcagag cctaagtttt caccttagca gagttctgag actgggtgag
     1441 gcagggactt ctggaaggtt ctgttcctgc cctttttagc tgaggacgtg tgtgagcctt
     1501 atccgacccc tgtggctcat ttttctcttc tgacctggca gctttccttg ttgttctaag
     1561 cctgtccatg ttgtggttta tttctggatg ctcagtggca cggggcctcc tccaaagaca
     1621 ggttgtcatt ttcatggtaa caacactgtt ctctgttgag tctgccctcc gtgttgtagc
     1681 cagaccttgt ggagatggct ttgcggcggt gtgagctggc ggtcaggagt gagggcccag
     1741 ccttcccggc acctcccagc caggtggccc tgcccgacct gtggggtgag gcagccaagg
     1801 ttccttccat ccccccagtt gtggagacac agggctgcct caccctttca ttgccgaggt
     1861 tcctacctca tggacagaac aaacacctca gcaatgaaac ctgttcatgt ctaagagcag
     1921 ctgggctggg aatcttcccc tttgttcaag gccttccagt aaggcccagc tgtccccttg
     1981 ctgtgcatgg ggctctgggg agttccactc tttgatggag ggcagaggcc ctgagtgcaa
     2041 actccctggg aagagtccca tgctaacatg tgctcaaagg agccctcctc tcacatctca
     2101 gcgaccaaga accccaatcc ctaatcagag ctctgcctct gccccacatg gggccctacc
     2161 ccacttccag ggagcacagc agcctctgac cctagccctg ccctggcagc atgggacctg
     2221 ccaacagctg agggtggcag cagtctgtgc tgggatctgt gcccggatct gtgcccattc
     2281 tcttcagtaa ggctggagct gcgagccagt ttgctgccct cccagatcct gtgtccattc
     2341 tgaagaatgg ggacacctcc ctattacaga tgagaacaga ggggacatga actccttgga
     2401 ggcagggctg ggaagggacc ctgggctgtg tctcctccct gtaccgtgtc aactccaaga
     2461 gctggcacca ggccgggagg gctattccca tattcctcac agctggcttg taaggcagga
     2521 gctggcccag gccacagcac ctgctggggt gggaaagggc cccagctgac ctggctatgg
     2581 gtgccactgg agctagaaca gccctcctgc acccaggctg gcgacagccc agcagtgccc
     2641 acacaggact gggccctccg caggggactt cagagcagca aggccccagc tggcagtagc
     2701 ctgaccatct ggacacagca gagccagggc ggcccaggga cggcaggaga gctcgcggca
     2761 ccttcctgag gccaagcaag gggagcaggg ttagggctgt tcctgaaagg cagagagcct
     2821 cttgccctga gcctcacagc tactcttctc agctctctgg gtctggaagg agaacaggct
     2881 gaggggagct gagaggagct gaggtgctac ccggagcccc attcaccccc acctgcccac
     2941 ttgggaatct gaggcagagg agggtgaggc ctgtgtgcca accttgttca cataccacct
     3001 tcgtcccccc aggccccggc cccactcctg gctctcatta tttttatgtt aaaactttga
     3061 agaaattgaa catgacctgt tgaagaaatt gaa
//
LOCUS       NM_001002901            1996 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens Fc receptor like B (FCRLB), transcript variant 1, mRNA.
ACCESSION   NM_001002901
VERSION     NM_001002901.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1996)
  AUTHORS   Zhou XJ, Cheng FJ, Qi YY, Zhao YF, Hou P, Zhu L, Lv JC and Zhang H.
  TITLE     FCGR2B and FCRLB gene polymorphisms associated with IgA nephropathy
  JOURNAL   PLoS One 8 (4), e61208 (2013)
   PUBMED   23593433
  REMARK    GeneRIF: The aim of the study was to associate multiple
            polymorphisms within FCGR gene locus with IgA nephropathy in a large
            Chinese cohort. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1996)
  AUTHORS   Luke MM, O'Meara ES, Rowland CM, Shiffman D, Bare LA, Arellano AR,
            Longstreth WT Jr, Lumley T, Rice K, Tracy RP, Devlin JJ and Psaty
            BM.
  TITLE     Gene variants associated with ischemic stroke: the cardiovascular
            health study
  JOURNAL   Stroke 40 (2), 363-368 (2009)
   PUBMED   19023099
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 1996)
  AUTHORS   Shiffman D, O'Meara ES, Bare LA, Rowland CM, Louie JZ, Arellano AR,
            Lumley T, Rice K, Iakoubova O, Luke MM, Young BA, Malloy MJ, Kane
            JP, Ellis SG, Tracy RP, Devlin JJ and Psaty BM.
  TITLE     Association of gene variants with incident myocardial infarction in
            the Cardiovascular Health Study
  JOURNAL   Arterioscler Thromb Vasc Biol 28 (1), 173-179 (2008)
   PUBMED   17975119
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 1996)
  AUTHORS   Taylor AI, Gould HJ, Sutton BJ and Calvert RA.
  TITLE     The first avian Ig-like Fc receptor family member combines features
            of mammalian FcR and FCRL
  JOURNAL   Immunogenetics 59 (4), 323-328 (2007)
   PUBMED   17273841
REFERENCE   5  (bases 1 to 1996)
  AUTHORS   Masuda K, Davis RS, Maruyama T, Zhang J, He T, Cooper MD, O-Wang J
            and Burrows PD.
  TITLE     FcRY, an Fc receptor related gene differentially expressed during B
            lymphocyte development and activation
  JOURNAL   Gene 363, 32-40 (2005)
   PUBMED   16263223
  REMARK    GeneRIF: Fcry is upregulated by short-term treatment with BAFF/BLyS,
            which promotes B cell survival rather than proliferation
REFERENCE   6  (bases 1 to 1996)
  AUTHORS   Wilson TJ and Colonna M.
  TITLE     A new Fc receptor homolog, FREB2, found in germinal center B cells
  JOURNAL   Genes Immun 6 (4), 341-346 (2005)
   PUBMED   15815692
REFERENCE   7  (bases 1 to 1996)
  AUTHORS   Chikaev NA, Bykova EA, Najakshin AM, Mechetina LV, Volkova OY, Peklo
            MM, Shevelev AY, Vlasik TN, Roesch A, Vogt T and Taranin AV.
  TITLE     Cloning and characterization of the human FCRL2 gene
  JOURNAL   Genomics 85 (2), 264-272 (2005)
   PUBMED   15676285
  REMARK    GeneRIF: Expression analysis revealed FCRL2 mRNA only in
            placenta.FCRL2 is differentially expressed by transformed B cell
            lines.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ021957.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367948.7/ ENSP00000356925.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL359541.11.
            On Jun 29, 2021 this sequence version replaced NM_001002901.3.
            Summary: FCRL2 belongs to the Fc receptor family. Fc receptors are
            involved in phagocytosis, antibody-dependent cell cytotoxicity,
            immediate hypersensitivity, and transcytosis of immunoglobulins via
            their ability to bind immunoglobulin (Ig) constant regions (Chikaev
            et al., 2005 [PubMed 15676285]).[supplied by OMIM, Mar 2008].
FEATURES             Location/Qualifiers
     source          1..1996
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..1996
                     /gene="FCRLB"
                     /gene_synonym="FCRL2; FCRLM2; FCRLY; FcRY; FREB-2; FREB2"
                     /note="Fc receptor like B"
                     /db_xref="GeneID:127943"
                     /db_xref="HGNC:HGNC:26431"
                     /db_xref="MIM:609251"
     misc_feature    151..153
                     /gene="FCRLB"
                     /gene_synonym="FCRL2; FCRLM2; FCRLY; FcRY; FREB-2; FREB2"
                     /note="upstream in-frame stop codon"
     CDS             235..1515
                     /gene="FCRLB"
                     /gene_synonym="FCRL2; FCRLM2; FCRLY; FcRY; FREB-2; FREB2"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; fc receptor-like protein 2; fc receptor-related protein
                     Y; fc receptor-like and mucin-like protein 2; fc receptor
                     homolog expressed in B cells protein 2"
                     /codon_start=1
                     /product="Fc receptor-like B isoform 1 precursor"
                     /protein_id="NP_001002901.1"
                     /db_xref="CCDS:CCDS30927.1"
                     /db_xref="GeneID:127943"
                     /db_xref="HGNC:HGNC:26431"
                     /db_xref="MIM:609251"
                     /translation="MWPLTALLLLVPSSGQAATLEKPILSLHPPWTTIFKGERVTLKCD
                     GYHPLLLELQPISTLWYLGHLLLPSHKKSIEVQTPGVYRCQTRGAPVSDPIHLSVSNDW
                     LILQVPYAPVFEGEPLVLRCRGWYDKVVYKLHYYHDGQAVRYFHSSANYTVLQARASDS
                     GRYQCSGTMRIPVESAPMFSAKVAVTVQELFRAPVLRVMGPREARGAALGGVVLRCDTR
                     LHPQKRDTPLQFAFYKYSRAVRRFDWGAEYTVPEPEVEELESYWCEAATATRSVRKRSP
                     WLQLPGPGSPLDPASTTAPAPWAAALAPGNRPLSFRKPPVSRSVPLVTSVRNTTSTGLQ
                     FPASGAPTAGPPACAPPTPLEQSAGALKPDVDLLLREMQLLKGLLSRVVLELKEPQALR
                     ELRGTPETPTSHFAVSPGTPETTPVES"
     sig_peptide     235..285
                     /gene="FCRLB"
                     /gene_synonym="FCRL2; FCRLM2; FCRLY; FcRY; FREB-2; FREB2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    688..690
                     /gene="FCRLB"
                     /gene_synonym="FCRL2; FCRLM2; FCRLY; FcRY; FREB-2; FREB2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6BAA4.1); glycosylation site"
     misc_feature    1432..1512
                     /gene="FCRLB"
                     /gene_synonym="FCRL2; FCRLM2; FCRLY; FcRY; FREB-2; FREB2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6BAA4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1975..1980
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FCRLB"
                     /gene_synonym="FCRL2; FCRLM2; FCRLY; FcRY; FREB-2; FREB2"
                     /note="hexamer: AATAAA"
     polyA_site      1996
                     /gene="FCRLB"
                     /gene_synonym="FCRL2; FCRLM2; FCRLY; FcRY; FREB-2; FREB2"
                     /note="major polyA site"
ORIGIN
        1 caggcatcag caagagggga agatactatc ttcctgggag ttgacagtac ctgataattg
       61 atctccttcc catcagattt ccaagggatc aaggtgcccc ggttctaaac aaccacaggt
      121 acggtcacat ggctcagaaa gcacaagaag tagagccccg aggtcagatc tgagaggctt
      181 ctgaggggcc gatgcagtga cttctctgct gcagctgctg cagtcagatc catcatgtgg
      241 ccactgacag cccttctgct cctggttcca agcagtgggc aagctgctac tctggagaag
      301 cccatattgt ctctacatcc accttggacc accatcttca aaggggagcg ggtaactttg
      361 aagtgtgatg gataccaccc actgctcctg gagctccagc ccatcagcac tctctggtat
      421 ttgggccacc tacttctgcc ctctcacaag aagagcattg aggtgcagac accaggggtg
      481 tatcgatgcc agacacgggg agcacccgtc agtgacccca tccacctctc tgtatccaat
      541 gattggctga ttctgcaagt gccctatgcg ccagtgttcg agggtgagcc gctagtcctg
      601 cgctgccgcg gctggtacga caaggtggtc tacaagcttc actactacca cgacggccag
      661 gccgtgcgct acttccactc cagcgccaac tacactgtgt tacaggcgcg tgccagcgac
      721 agcgggcgct accagtgctc gggcaccatg cgcatcccgg tggagagcgc gcccatgttc
      781 tccgctaagg tggctgtgac agtgcaagag ctgttccggg cgccggtgct gagggtgatg
      841 ggtccgcggg aggcccgcgg cgcggcgctg ggtggggtgg tgctgcgctg cgacacgcgc
      901 ctgcacccgc agaagcgcga cacgccgctg cagttcgcgt tttacaagta cagccgcgcg
      961 gtgcgccgct tcgactgggg cgccgagtac acagtcccgg agcccgaggt cgaggagctc
     1021 gaatcgtact ggtgcgaggc ggctaccgcc acccgcagtg tccggaaacg cagtccgtgg
     1081 ctgcagctcc cggggccggg ttctcccctg gacccggcct ccaccaccgc cccagctcca
     1141 tgggccgcag ccttggctcc tggtaatagg ccgctttcct tcagaaagcc cccggtgtcc
     1201 agatcggtcc cgttggtcac ctccgtccgg aacaccacct ccaccgggct gcagttcccg
     1261 gcgagcggcg ccccgactgc ggggccaccc gcctgcgctc cgccgacgcc cttggaacaa
     1321 tcggctggag ccctgaaacc cgacgtggac cttctgctcc gagaaatgca gctgctcaaa
     1381 ggccttctga gccgggtggt cctggaatta aaggagccac aggccctccg ggagctcagg
     1441 ggaacgcccg agacccccac ctctcacttt gctgtgagcc cgggaacccc agagaccact
     1501 cctgtggaga gctgaggggg cggctaccgt cccctctgca ggctcattcc tccttggtct
     1561 cctgcttccc ctcacgcgaa tttctttcaa agccatctgt ttgcatcctt gtgttttgct
     1621 gtggttttta aaggagcgcc cacgaagtgt agtggctgac gatttcaacc tcacacagca
     1681 gtttgtaacc gcaagcattc tctttgaatt ctcacagaat tcagcaagaa gtagaaacct
     1741 gttatttact acattgtgat ttaactttgg atgtgaattt agtcaccctt agcccttcag
     1801 ataagcctag ccagtacata tttcagcaca ggcagttttt ttggtattta agtacattga
     1861 ggtaactgag cacttgagaa tattttaggg tcaaagtgta attattcata atgaatttac
     1921 tctgttgata ttaaaaagac gttcagtcct attactgatg agtttacatc ttcaaataaa
     1981 tcctgggttc tattta
//
LOCUS       NM_001002905            5055 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily G member 1
            (OR8G1), transcript variant 1, coding, mRNA.
ACCESSION   NM_001002905
VERSION     NM_001002905.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5055)
  AUTHORS   Young JM, Endicott RM, Parghi SS, Walker M, Kidd JM and Trask BJ.
  TITLE     Extensive copy-number variation of the human olfactory receptor gene
            family
  JOURNAL   Am J Hum Genet 83 (2), 228-242 (2008)
   PUBMED   18674749
REFERENCE   2  (bases 1 to 5055)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 5055)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
REFERENCE   4  (bases 1 to 5055)
  AUTHORS   Vanderhaeghen P, Schurmans S, Vassart G and Parmentier M.
  TITLE     Specific repertoire of olfactory receptor genes in the male germ
            cells of several mammalian species
  JOURNAL   Genomics 39 (3), 239-246 (1997)
   PUBMED   9119360
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA1968968, SAMEA2148093
            [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641972.1/ ENSP00000493289.1
            polymorphic pseudogene :: PMID: 18674749
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            FO680687.2 and AP002965.3.
            On Oct 10, 2020 this sequence version replaced NM_001002905.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This family member represents a
            polymorphic pseudogene, whereby some individuals have a functional
            allele that encodes a full-length protein, while others have a
            non-functional allele due to the presence of an early stop codon
            and a 3' end deletion. [provided by RefSeq, Feb 2014].
            Transcript Variant: This variant (1, coding) represents the longer
            transcript and encodes the supported protein. It represents the
            functional allele, as described in PMID: 18674749 and found in the
            GRCh38 reference genome assembly.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence because no single transcript was available for the
            full length of the gene. This RefSeq is supported by partial
            transcript and paralogous alignments.
FEATURES             Location/Qualifiers
     source          1..5055
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..5055
                     /gene="OR8G1"
                     /gene_synonym="HSTPCR25; OR8G1P; TPCR25"
                     /note="olfactory receptor family 8 subfamily G member 1"
                     /db_xref="GeneID:26494"
                     /db_xref="HGNC:HGNC:8484"
     misc_feature    355..357
                     /gene="OR8G1"
                     /gene_synonym="HSTPCR25; OR8G1P; TPCR25"
                     /note="upstream in-frame stop codon"
     CDS             367..1302
                     /gene="OR8G1"
                     /gene_synonym="HSTPCR25; OR8G1P; TPCR25"
                     /note="olfactory receptor, family 8, subfamily G, member 1
                     pseudogene; olfactory receptor TPCR25; olfactory receptor
                     OR11-281"
                     /codon_start=1
                     /product="olfactory receptor 8G1"
                     /protein_id="NP_001002905.1"
                     /db_xref="CCDS:CCDS73407.1"
                     /db_xref="GeneID:26494"
                     /db_xref="HGNC:HGNC:8484"
                     /translation="MSGENNSSVTEFILAGLSEQPELQLPLFLLFLGIYVVTVVGNLGM
                     TTLIWLSSHLHTPMYYFLSSLSFIDFCHSTVITPKMLVNFVTEKNIISYPECMTQLYFF
                     LVFAIAECHMLAAMAYDRYMAICSPLLYSVIISNKACFSLILGVYIIGLVCASVHTGCM
                     FRVQFCKFDLINHYFCDLLPLLKLSCSSIYVNKLLILCVGAFNILVPSLTILCSYIFII
                     ASILHIRSTEGRSKAFSTCSSHMLAVVIFFGSAAFMYLQPSSISSMDQGKVSSVFYTII
                     VPMLNPLIYSLRNKDVHVSLKKMLQRRTLL"
     misc_feature    379..381
                     /gene="OR8G1"
                     /gene_synonym="HSTPCR25; OR8G1P; TPCR25"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q15617.2); glycosylation site"
     misc_feature    382..384
                     /gene="OR8G1"
                     /gene_synonym="HSTPCR25; OR8G1P; TPCR25"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q15617.2); glycosylation site"
     misc_feature    442..504
                     /gene="OR8G1"
                     /gene_synonym="HSTPCR25; OR8G1P; TPCR25"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15617.2);
                     transmembrane region"
     misc_feature    529..591
                     /gene="OR8G1"
                     /gene_synonym="HSTPCR25; OR8G1P; TPCR25"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15617.2);
                     transmembrane region"
     misc_feature    664..726
                     /gene="OR8G1"
                     /gene_synonym="HSTPCR25; OR8G1P; TPCR25"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15617.2);
                     transmembrane region"
     misc_feature    784..846
                     /gene="OR8G1"
                     /gene_synonym="HSTPCR25; OR8G1P; TPCR25"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15617.2);
                     transmembrane region"
     misc_feature    958..1017
                     /gene="OR8G1"
                     /gene_synonym="HSTPCR25; OR8G1P; TPCR25"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15617.2);
                     transmembrane region"
     misc_feature    1078..1140
                     /gene="OR8G1"
                     /gene_synonym="HSTPCR25; OR8G1P; TPCR25"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15617.2);
                     transmembrane region"
     misc_feature    1180..1242
                     /gene="OR8G1"
                     /gene_synonym="HSTPCR25; OR8G1P; TPCR25"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15617.2);
                     transmembrane region"
     regulatory      2280..2285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR8G1"
                     /gene_synonym="HSTPCR25; OR8G1P; TPCR25"
                     /note="hexamer: ATTAAA"
     polyA_site      2301
                     /gene="OR8G1"
                     /gene_synonym="HSTPCR25; OR8G1P; TPCR25"
                     /note="major polyA site"
ORIGIN
        1 ttgccaccct gaagctggag aaacaaaaac tgcaaagtca taattagaaa tactgacctg
       61 tgatgcagac cagcttcaaa gtgactctga gactgagggc tgggccctgc cctctcaaca
      121 ctaaagattc cagaatgctg ggtgtctatg actctcaaca ccaacattaa tgccatgtca
      181 ggaagagaac attccaagcc aacattctcc atgtcaggaa gaggaaattg caagtaaaat
      241 caagcattga agtttttagg cagtggaaag tttggggctc ttatgaataa ggctgtcatg
      301 aacatttttg tataaatctt catgtagaca aacgtttaca tttttcttgg aaactgactg
      361 gaggagatgt caggagaaaa taattcctca gtgactgagt tcattctggc tgggctctca
      421 gaacagccag agctccagct gcccctcttc ctcctgttct taggaatcta tgtggtcaca
      481 gtggtgggca acctgggcat gaccacactg atttggctca gttctcacct gcacacccct
      541 atgtactatt tcctcagcag tctgtccttc attgacttct gccattccac tgtcattacc
      601 cctaagatgc tggtgaactt tgtgacagag aagaacatca tctcctaccc tgaatgcatg
      661 actcagctct acttcttcct cgtttttgct attgcagagt gtcacatgtt ggctgcaatg
      721 gcgtatgacc gttacatggc catctgtagc cccttgctgt acagtgtcat catatccaat
      781 aaggcttgct tttctctgat tttaggggtg tatataatag gcctggtttg tgcatcagtt
      841 catacaggct gtatgtttag ggttcaattc tgcaaatttg atttgattaa ccattatttc
      901 tgtgatcttc ttcccctcct aaagctctct tgctctagta tctatgtcaa caaactactt
      961 attctatgtg ttggtgcatt taacatcctt gtccccagcc tgaccatcct ttgctcttac
     1021 atctttatta ttgccagcat cctccacatt cgctccactg agggcaggtc caaagccttc
     1081 agcacttgta gctcccacat gttggcggtt gtaatctttt ttggatctgc agcattcatg
     1141 tacttgcagc catcttcaat cagctccatg gaccagggga aagtatcctc tgtgttttat
     1201 actattattg tgcccatgtt gaaccctctg atttatagcc tgaggaataa agatgtccat
     1261 gtttccctga agaaaatgct acagagaaga acattattgt aaacagtaat aataagaaga
     1321 tgatatatta atcctaagta gtggactgtt acattgtatg aatggatgtc tttcacttta
     1381 atgcatctgt caataatttt taccatttgg tgagattata ttaccattat tttttcattt
     1441 catgaccctt tgatgtcatt tcccatgtgg ggttttaact catatgtatc aatgagacac
     1501 aaattaatat aaatactaaa atcgacatga gtacatagac tcattaatgc cagccccatg
     1561 ttcttacctc ttttctttta cacaattgat aaaattcagc tcagttctca accataatga
     1621 aaataccatc ttccaaaagt gataccaatc tcccttattc tgtcttttca ataacaacat
     1681 aaattattgc aatatgatag ctgtaatttt agcctgcagc aatctctttt ctgccttatt
     1741 catctattta cctcatttgt ctgctgtatt tcttctttag caacataatc aaaatttcag
     1801 aatataagtt acatatccgt gtatgtgtta taattgtgca atccaatata tcatctgctt
     1861 tgcattttcc tattctagtt tgtacttgcc ttcaacctac actggacttc agtcttcatg
     1921 aagattcccc cgtacatgtg gtttattgcc acgtctccag cgtctatcat agttcttgcc
     1981 accttaggtc cttgaaagct tttttattat ttcctcattt aagctaagta taggaaagcc
     2041 atatgtatgt catacttact ttatctattt atctctcgaa gagctacata tgtttttaaa
     2101 tctaatctaa tttaatttat atttcaagtt gattaaaatt tactttagaa ggttcttcaa
     2161 gaatctataa tataactggt aacattctga cctattctat gctaagatgt atgtgtattt
     2221 gttctgtgaa aaatcccaat gcagatatga taacttgtta acacctgatt ttttaagtca
     2281 ttaaaccctc tcaacaacca aggagtccct aaagcaatac ttattttttc tttcttttca
     2341 aacatgtggc acaggaaggt taaaaaatat gtttgatgcc tgatgggtaa acatagcaaa
     2401 tctggtgata gagttggaac ctgaatagca tggtctaaac tacccttaat tctctatgcc
     2461 tagagcagaa cataatttta cctgtgctgg taatgagaaa attccttgct atgtagatat
     2521 ttagtgaatt ttatgatata taaaatatac ttcaataaaa ttgctttaaa atgaaagtga
     2581 gggtgctacg tgatcaaata caataagcta tgtttctata accagaagaa atatttcact
     2641 tgtctatatt tggatggggc tggttaagtt gctttgatca gattccaggt aatgcagctt
     2701 actctgttta tatatattta atcacaggct cctggatatc gaaactatag tttgtccatc
     2761 cttttagttg aagggagtgt aggtgaatga gccataggtt aataggacta tttcccggga
     2821 actctaaaaa catggcatgt ataaaattga gcataccaag tagatttgga tcttcttgcc
     2881 tgagaaaatt ctcaatcaat catggactct attaacctga gtctgggaag attcaactgt
     2941 taatctattt cttccatgtg gagccaagtt aaatgatttc tttaagctta tttacttatt
     3001 acttatttgc tattactagt gtatctaagt ataactagtg aaaaaattgc caggatccga
     3061 cttagaaaaa aatatatttc taaaagctaa ggggacttaa agttatttcc tcagaaaact
     3121 catctctgaa actcaatctg cattactttt ccatatcatc cttatgttct ctttcagaaa
     3181 aactatctct ttttcttctt agcttgcatt gcttgtggta attttatgat catttgaacg
     3241 tctactctgt acatttccct tgcttcaatg gactataagc tcgagtagag aatacacact
     3301 caaatattta ttaatgatta taccaaacac ccttggtttc tcatgccaca ttctttcaga
     3361 ctacctcctg tttctcattt cagcagactt gaggcacatt tattagctgt gtgcaagctg
     3421 agagttaact tgcattgaag gtgttacact tcaaatttcc agcaagtgct ttgcactttc
     3481 actctggaaa cttctccaca atttcagatg ctcatttggc ttatgtacag tcagctcaaa
     3541 gaattcttgc tcttggggtc acctttaccc agtaacagtg aaaattgtgt gtaatgccac
     3601 atcatcctgt cacacaggac agccatcttg ggaaacatca tatgcacttc tgaggaagtg
     3661 ctggtaaaat tgaaccacca ttgctcatac cagcttttca ataacatact ccaatattag
     3721 cttttccttc ttcgcatttt gactcaaatt tgtaaacatt actaaaaaat taacagctta
     3781 aatgaagata aaacaataat ttaaagtccg ttagaaaact atttatgttt gctgagtgca
     3841 gtggctcatg cctgtagtcc cagcactttg gggagctgag gtgggtgaat cacttctgtt
     3901 caggagtttg agaccagcct gggcaacaag gagaaacctc atttctgcag aaaatacaaa
     3961 aattagctgg gcatggtggt gtgtgcctga agttccagct acttgggagg ctgaggcagg
     4021 agtattgctt gggtccagga agttggggct gcagtgagcc ttgattgtgc cactgtacgt
     4081 cagcctgggc gacagagaga gattgtcccc caaactacca ccaccaccaa tgaacaaaca
     4141 aacaaaaact ttgacaactt ttaatggtca aaaaatattg tatatattat tgtgtacaag
     4201 ttattttgaa tgtgtgtgtg tgtgtatagc gaaatgccta aattgagcta gttaacatat
     4261 atattaccta acatatttat ttgtgtgtgt gtggtgagaa cactaatcca atagattttt
     4321 attactatag ttaccattta tacaatagtt tttaacttat tccttctatc taattaaaat
     4381 attatatcct ttgaccaaca tctcctccca cacgcccagc tgcagataaa cacaattcta
     4441 ctgtctacct ctgtgagttc agcattttta gattccacat gtatgtgaga tcatgtagta
     4501 tttgtctttc tgtgcctggc ttatttcatg taatataatg tcctacaggt tcatctgtat
     4561 tgttgcaaat ttttaaatct aaatattatt ccattgtgca catataccac attttgttta
     4621 tccattcttc ctaagcgatg gacacctagg ttaatctata tcttggctat tgtgaataat
     4681 gctacaataa acatgggagt gcagatattt ctttgacgtg ctgattgtat tttttgaata
     4741 tatacccgat agtggtattg ctaggtcata tggtagttca atttttaatt ttttgaggaa
     4801 gctttatgct gttttccata atgactgtac taatttacat tcccataaac agcatgtaat
     4861 ggttcacttt cctccacatc ctctccaaca gttatccgtt ctctttttga tagtaactat
     4921 cctaacaagt atgaggtgat atctcactgt agtttctctg caatttgatg atttgtaatt
     4981 ttgaacactt tttcatatac ctgttgacca tttttatgtc ttcttttgag aaatgtctat
     5041 ttagatgctt tgcct
//
LOCUS       NM_001002907             960 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily K member 1
            (OR8K1), mRNA.
ACCESSION   NM_001002907
VERSION     NM_001002907.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 960)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 960)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000279783.5/ ENSP00000279783.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065835.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..960
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..960
                     /gene="OR8K1"
                     /gene_synonym="OR11-182; OR8N1P"
                     /note="olfactory receptor family 8 subfamily K member 1"
                     /db_xref="GeneID:390157"
                     /db_xref="HGNC:HGNC:14831"
     CDS             1..960
                     /gene="OR8K1"
                     /gene_synonym="OR11-182; OR8N1P"
                     /note="olfactory receptor, family 8, subfamily N, member 1
                     pseudogene; olfactory receptor OR11-182"
                     /codon_start=1
                     /product="olfactory receptor 8K1"
                     /protein_id="NP_001002907.1"
                     /db_xref="CCDS:CCDS31528.1"
                     /db_xref="GeneID:390157"
                     /db_xref="HGNC:HGNC:14831"
                     /translation="MNHVVKHNHTAVTKVTEFILMGITDNPGLQAPLFGLFLIIYLVTV
                     IGNLGMVILTYLDSKLHTPMYFFLRHLSITDLGYSTVIAPKMLVNFIVHKNTISYNWYA
                     TQLAFFEIFIISELFILSAMAYDRYVAICKPLLYVIIMAEKVLWVLVIVPYLYSTFVSL
                     FLTIKLFKLSFCGSNIISYFYCDCIPLMSILCSDTNELELIILIFSGCNLLFSLSIVLI
                     SYMFILVAILRMNSRKGRYKAFSTCSSHLTVVIMFYGTLLFIYLQPKSSHTLAIDKMAS
                     VFYTLLIPMLNPLIYSLRNKEVKDALKRTLTNRFKIPI"
     misc_feature    22..24
                     /gene="OR8K1"
                     /gene_synonym="OR11-182; OR8N1P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGG5.1); glycosylation site"
     misc_feature    94..156
                     /gene="OR8K1"
                     /gene_synonym="OR11-182; OR8N1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG5.1);
                     transmembrane region"
     misc_feature    181..243
                     /gene="OR8K1"
                     /gene_synonym="OR11-182; OR8N1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG5.1);
                     transmembrane region"
     misc_feature    316..378
                     /gene="OR8K1"
                     /gene_synonym="OR11-182; OR8N1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG5.1);
                     transmembrane region"
     misc_feature    436..498
                     /gene="OR8K1"
                     /gene_synonym="OR11-182; OR8N1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG5.1);
                     transmembrane region"
     misc_feature    610..669
                     /gene="OR8K1"
                     /gene_synonym="OR11-182; OR8N1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG5.1);
                     transmembrane region"
     misc_feature    730..792
                     /gene="OR8K1"
                     /gene_synonym="OR11-182; OR8N1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG5.1);
                     transmembrane region"
     misc_feature    832..894
                     /gene="OR8K1"
                     /gene_synonym="OR11-182; OR8N1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG5.1);
                     transmembrane region"
ORIGIN
        1 atgaatcatg tggtaaaaca caatcacacg gcagtgacca aggtgactga atttattctc
       61 atggggatta cagacaaccc tgggctgcag gctccactgt ttggactctt cctcatcata
      121 tatctggtca cagtgatagg caatctgggc atggttatct tgacctactt ggactccaag
      181 ctacacaccc ccatgtactt tttccttaga catttgtcaa tcactgatct tggttactcc
      241 actgtcattg ccccgaagat gttagtaaac ttcatagtgc acaaaaacac aatttcttac
      301 aattggtatg ccactcagct agcattcttt gagattttca tcatctctga gctctttatt
      361 ctatcagcaa tggcctatga tcgctacgta gccatctgta aacctcttct gtacgtgatc
      421 atcatggcag agaaagtact ttgggtgctg gtaattgttc cctatctcta tagcacgttt
      481 gtgtcactat ttctcacaat taagttattt aaactgtcct tctgtggctc aaacataatc
      541 agctattttt actgtgactg tatccctctg atgtccatac tctgttctga cacaaatgaa
      601 ttagaattaa taattttgat cttctcaggc tgtaatttgc tcttctccct ctcaattgtt
      661 ctcatatcct acatgtttat tctagtggcc attctcagaa tgaactcaag gaaagggagg
      721 tacaaagcct tctccacctg tagctctcat ctgacagtgg tgatcatgtt ctatgggaca
      781 ttgttattta tttacttgca acccaagtcc agtcatactt tggctattga taaaatggcc
      841 tcagtgtttt ataccctgtt gattcctatg ctgaatccgt tgatctacag cctaaggaac
      901 aaagaagtaa aagatgctct aaagagaact ttaaccaatc gattcaaaat tcccatttaa
//
LOCUS       NM_001002909            6832 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens G-patch domain containing 8 (GPATCH8), transcript
            variant 1, mRNA.
ACCESSION   NM_001002909
VERSION     NM_001002909.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6832)
  AUTHORS   Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA,
            Weisswange I, Mansfeld J, Buchholz F, Hyman AA and Mann M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   2  (bases 1 to 6832)
  AUTHORS   Kaneko H, Kitoh H, Matsuura T, Masuda A, Ito M, Mottes M, Rauch F,
            Ishiguro N and Ohno K.
  TITLE     Hyperuricemia cosegregating with osteogenesis imperfecta is
            associated with a mutation in GPATCH8
  JOURNAL   Hum Genet 130 (5), 671-683 (2011)
   PUBMED   21594610
  REMARK    GeneRIF: Two missense single-nucleotide variants in ZPBP2 and
            GPATCH8 on chromosome 17 were identified that cosegregated with
            hyperuricemia in the Japanese family.
REFERENCE   3  (bases 1 to 6832)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction Assessment
            with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (bases 1 to 6832)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 6832)
  AUTHORS   Nousiainen M, Sillje HH, Sauer G, Nigg EA and Korner R.
  TITLE     Phosphoproteome analysis of the human mitotic spindle
  JOURNAL   Proc Natl Acad Sci U S A 103 (14), 5391-5396 (2006)
   PUBMED   16565220
REFERENCE   6  (bases 1 to 6832)
  AUTHORS   Thornton MA, Poncz M, Korostishevsky M, Yakobson E, Usher S,
            Seligsohn U and Peretz H.
  TITLE     The human platelet alphaIIb gene is not closely linked to its
            integrin partner beta3
  JOURNAL   Blood 94 (6), 2039-2047 (1999)
   PUBMED   10477733
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.12881.1,
            SRR1660805.222318.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467148
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000591680.6/ ENSP00000467556.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY048299.1, AK025600.1,
            BC136629.1 and BC024147.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001002909.3.
            Summary: The protein encoded by this gene contains an
            RNA-processing domain, a zinc finger domain, a lysine-rich region
            and a serine-rich region. A mutation in the serine-rich region of
            the protein is thought to be associated with hyperuricemia (PMID:
            21594610). Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Feb
            2015].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6832
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..6832
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="G-patch domain containing 8"
                     /db_xref="GeneID:23131"
                     /db_xref="HGNC:HGNC:29066"
                     /db_xref="MIM:614396"
     CDS             37..4545
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="isoform 1 is encoded by transcript variant 1; g
                     patch domain-containing protein 8"
                     /codon_start=1
                     /product="G patch domain-containing protein 8 isoform 1"
                     /protein_id="NP_001002909.1"
                     /db_xref="CCDS:CCDS32666.1"
                     /db_xref="GeneID:23131"
                     /db_xref="HGNC:HGNC:29066"
                     /db_xref="MIM:614396"
                     /translation="MADRFSRFNEDRDFQGNHFDQYEEGHLEIEQASLDKPIESDNIGH
                     RLLQKHGWKLGQGLGKSLQGRTDPIPIVVKYDVMGMGRMEMELDYAEDATERRRVLEVE
                     KEDTEELRQKYKDYVDKEKAIAKALEDLRANFYCELCDKQYQKHQEFDNHINSYDHAHK
                     QRLKDLKQREFARNVSSRSRKDEKKQEKALRRLHELAEQRKQAECAPGSGPMFKPTTVA
                     VDEEGGEDDKDESATNSGTGATASCGLGSEFSTDKGGPFTAVQITNTTGLAQAPGLASQ
                     GISFGIKNNLGTPLQKLGVSFSFAKKAPVKLESIASVFKDHAEEGTSEDGTKPDEKSSD
                     QGLQKVGDSDGSSNLDGKKEDEDPQDGGSLASTLSKLKRMKREEGAGATEPEYYHYIPP
                     AHCKVKPNFPFLLFMRASEQMDGDNTTHPKNAPESKKGSSPKPKSCIKAAASQGAEKTV
                     SEVSEQPKETSMTEPSEPGSKAEAKKALGGDVSDQSLESHSQKVSETQMCESNSSKETS
                     LATPAGKESQEGPKHPTGPFFPVLSKDESTALQWPSELLIFTKAEPSISYSCNPLYFDF
                     KLSRNKDARTKGTEKPKDIGSSSKDHLQGLDPGEPNKSKEVGGEKIVRSSGGRMDAPAS
                     GSACSGLNKQEPGGSHGSETEDTGRSLPSKKERSGKSHRHKKKKKHKKSSKHKRKHKAD
                     TEEKSSKAESGEKSKKRKKRKRKKNKSSAPADSERGPKPEPPGSGSPAPPRRRRRAQDD
                     SQRRSLPAEEGSSGKKDEGGGGSSSQDHGGRKHKGELPPSSCQRRAGTKRSSRSSHRSQ
                     PSSGDEDSDDASSHRLHQKSPSQYSEEEEEEDSGSEHSRSRSRSGRRHSSHRSSRRSYS
                     SSSDASSDQSCYSRQRSYSDDSYSDYSDRSRRHSKRSHDSDDSDYASSKHRSKRHKYSS
                     SDDDYSLSCSQSRSRSRSHTRERSRSRGRSRSSSCSRSRSKRRSRSTTAHSWQRSRSYS
                     RDRSRSTRSPSQRSGSRKRSWGHESPEERHSGRRDFIRSKIYRSQSPHYFRSGRGEGPG
                     KKDDGRGDDSKATGPPSQNSNIGTGRGSEGDCSPEDKNSVTAKLLLEKIQSRKVERKPS
                     VSEEVQATPNKAGPKLKDPPQGYFGPKLPPSLGNKPVLPLIGKLPATRKPNKKCEESGL
                     ERGEEQEQSETEEGPPGSSDALFGHQFPSEETTGPLLDPPPEESKSGEATADHPVAPLG
                     TPAHSDCYPGDPTISHNYLPDPSDGDTLESLDSSSQPGPVESSLLPIAPDLEHFPSYAP
                     PSGDPSIESTDGAEDASLAPLESQPITFTPEEMEKYSKLQQAAQQHIQQQLLAKQVKAF
                     PASAALAPATPALQPIHIQQPATASATSITTVQHAILQHHAAAAAAAIGIHPHPHPQPL
                     AQVHHIPQPHLTPISLSHLTHSIIPGHPATFLASHPIHIIPASAIHPGPFTFHPVPHAA
                     LYPTLLAPRPAAAAATALHLHPLLHPIFSGQDLQHPPSHGT"
     misc_feature    550..789
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKJ3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1003..1209
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKJ3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1291..1659
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKJ3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1471..1473
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:A2A6A1; propagated from
                     UniProtKB/Swiss-Prot (Q9UKJ3.2); acetylation site"
     misc_feature    1507..1509
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKJ3.2); phosphorylation site"
     misc_feature    1771..3939
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKJ3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1993..1995
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKJ3.2); phosphorylation site"
     misc_feature    2248..2250
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKJ3.2); phosphorylation site"
     misc_feature    2254..2256
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9UKJ3.2);
                     phosphorylation site"
     misc_feature    2308..2310
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9UKJ3.2); phosphorylation site"
     misc_feature    2767..2769
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A2A6A1; propagated from
                     UniProtKB/Swiss-Prot (Q9UKJ3.2); phosphorylation site"
     misc_feature    2776..2778
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A2A6A1; propagated from
                     UniProtKB/Swiss-Prot (Q9UKJ3.2); phosphorylation site"
     misc_feature    2977..2979
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9UKJ3.2); phosphorylation site"
     misc_feature    3061..3063
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKJ3.2); phosphorylation site"
     misc_feature    3076..3078
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKJ3.2); phosphorylation site"
     misc_feature    3133..3135
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UKJ3.2); phosphorylation site"
     misc_feature    3139..3141
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9UKJ3.2);
                     phosphorylation site"
     misc_feature    3277..3279
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9UKJ3.2); phosphorylation site"
     misc_feature    3355..3357
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9UKJ3.2);
                     phosphorylation site"
     misc_feature    3559..3561
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A2A6A1; propagated from
                     UniProtKB/Swiss-Prot (Q9UKJ3.2); phosphorylation site"
     regulatory      6810..6815
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="hexamer: AATAAA"
     polyA_site      6832
                     /gene="GPATCH8"
                     /gene_synonym="GPATC8; KIAA0553"
                     /note="major polyA site"
ORIGIN
        1 ggagagcgtc gtcctgagag gagtgaaggc ggcaaaatgg cggaccgctt ctcccgcttc
       61 aacgaagacc gagactttca gggtaatcac tttgatcagt atgaggaagg acacttggaa
      121 attgaacaag cgtcacttga caagcctata gaatcggata atattggaca ccgcttactc
      181 cagaaacatg ggtggaagct gggccaggga ttgggaaaat ctcttcaggg gagaacagat
      241 cccattccaa tcgttgtcaa gtatgatgtc atgggcatgg gtcgcatgga aatggagctt
      301 gattatgctg aagatgctac cgaacggcgc cgtgtcctag aagtagaaaa agaagacaca
      361 gaagagctga gacaaaagta caaggattat gttgacaaag agaaggcaat tgccaaagcc
      421 ttggaagacc tcagagccaa cttttattgt gaactgtgtg ataagcaata tcagaaacat
      481 caggaatttg ataaccatat caactcctat gatcatgcac acaagcagag attaaaagat
      541 ctgaagcaga gagagtttgc tcgaaatgtc tcttcaagat cccgcaagga tgagaaaaaa
      601 caggaaaaag cccttcggcg gctccatgag ttggcagagc aaagaaaaca agctgaatgt
      661 gcacctggaa gtggtcccat gttcaaacca accacagtgg ctgtagatga agaaggtgga
      721 gaagatgata aagatgaatc agctacaaat agtggcacag gtgccactgc ttcttgtggc
      781 ctgggatctg aattctccac agataaagga ggccctttca ctgcagtaca aatcactaat
      841 accactggac tggcccaggc tcctgggtta gcctcccaag gcatcagctt tggcattaag
      901 aataatctgg ggaccccatt gcaaaaattg ggagtgtcat tttcttttgc caaaaaggct
      961 cctgtcaaac tcgaatcaat agcatcagtt ttcaaggacc atgcggagga agggacctct
     1021 gaagatggaa caaaacccga tgagaagagt tctgaccaag gactgcagaa ggtaggagac
     1081 tctgatggga gcagtaatct tgatggtaaa aaagaggatg aagaccctca ggatggaggg
     1141 tcccttgcct caacattatc caaattaaaa aggatgaaac gagaagaagg agctggggct
     1201 acagagcctg agtattacca ctacatcccc ccagcacact gcaaagtaaa acctaatttt
     1261 ccctttctac tttttatgag agccagtgaa caaatggatg gtgataatac tacacaccca
     1321 aagaatgccc cagagagtaa aaaaggcagt tctcccaagc ctaaaagctg catcaaggcg
     1381 gcagcaagcc aaggagcaga aaagacagtt agtgaagtct ctgagcagcc gaaggaaacc
     1441 agcatgaccg agccctcaga accaggaagc aaagctgagg caaagaaggc cttaggaggg
     1501 gatgtaagtg atcagagttt agaaagtcat agtcagaagg tttcagagac ccaaatgtgt
     1561 gagtccaact cttctaaaga aacctctctg gccaccccag cagggaaaga aagccaagaa
     1621 ggacccaaac atcctactgg tcccttcttc ccagttttga gcaaagatga aagcactgcc
     1681 ctccagtggc catcagaact attaattttc accaaggcag aaccctccat ttcatacagt
     1741 tgtaaccctt tatattttga ctttaaactt tcaaggaaca aagatgccag aactaaagga
     1801 acagaaaaac caaaggatat aggaagctcc tcaaaggacc atctccaagg cctagatcct
     1861 ggtgagccaa ataaaagcaa ggaagtgggc ggagagaaaa tagtacgttc ctcaggaggc
     1921 agaatggacg cacctgcttc agggtctgcc tgtagcggcc tgaacaagca ggagcctggg
     1981 ggtagccatg ggtctgagac agaagacaca gggagaagcc ttcccagcaa gaaagaacga
     2041 tctgggaagt cccaccggca caaaaagaaa aagaagcaca aaaaatccag caaacacaaa
     2101 cgtaaacaca aggctgacac agaagagaaa agctctaagg cagagtcagg ggagaaatct
     2161 aagaagcgca agaaacgaaa acgaaagaag aataagtcat cagccccagc agattctgaa
     2221 cgaggaccca aaccagaacc ccctgggagt ggcagtcccg caccaccaag aagaaggcgg
     2281 agagctcaag atgactccca gcggagatcc ctcccagctg aagaggggag cagtggcaaa
     2341 aaggatgaag gtgggggtgg tagcagctcc caagaccatg gtgggaggaa acacaaaggt
     2401 gaacttccac cttcatcctg ccagcgaaga gcaggcacca aacggagcag ccggtctagc
     2461 catcggagcc aacccagtag tggagatgag gatagtgatg atgcttcctc acaccggctg
     2521 caccagaagt ctccatccca gtacagtgag gaagaagaag aggaagattc aggcagtgag
     2581 cattcccgca gccgctcaag gtctggccgg cgccattcct cgcatcgttc ctcccggcgt
     2641 tcttactcaa gtagctcaga tgcctcttca gaccagagct gctatagtag acagcgcagt
     2701 tactctgatg acagctacag tgactacagt gacagatcac gaaggcactc caagcgctcc
     2761 catgactcag atgactcaga ctatgccagc tccaaacacc gatcaaaacg gcacaaatat
     2821 tcatcttctg atgatgacta tagcctcagt tgcagccagt cccgaagccg atctcggagt
     2881 cataccagag agcgctcaag atcccggggc cgcagccgca gcagcagttg tagtcgtagt
     2941 cgaagcaagc ggagaagccg tagcaccaca gcccacagct ggcaacggag ccggagctat
     3001 agccgggacc gcagccgcag caccaggagc ccttcccaga gatcaggctc caggaagaga
     3061 tcatggggtc acgagagccc tgaggagagg cattctgggc gtcgggactt cattcgttct
     3121 aagatctacc gctcccagtc cccccactat ttccgatcag gccggggaga aggtcctggg
     3181 aagaaagatg atggcagagg agatgacagt aaagcaacag gtccaccttc ccagaacagc
     3241 aacattggca caggaagagg gtcagaaggt gactgcagtc ctgaagacaa gaactctgtc
     3301 actgccaaac tgctactgga gaagatccag tcaaggaaag tggagaggaa acctagtgtg
     3361 agtgaggagg tgcaggccac ccctaataaa gctgggccca agctcaagga ccccccacaa
     3421 ggttactttg ggcccaagct ccccccatct cttggcaata agcctgtcct tccactgata
     3481 gggaagctcc cagctacccg aaagcccaat aagaagtgtg aagagtctgg cttggaaagg
     3541 ggggaagagc aagaacagtc agagacagaa gaggggcccc cagggagtag tgatgcccta
     3601 tttgggcatc agttcccttc agaggaaaca actggcccct tattagaccc acccccagaa
     3661 gagtcaaagt ctggagaagc tactgctgat caccctgtgg ctccactagg caccccagca
     3721 cattctgact gctaccctgg ggacccaacc atctcccata actacctccc cgaccccagt
     3781 gatggggaca ccctggagtc cctggatagc agcagtcagc caggccctgt ggagtccagc
     3841 ttgctgccta tagcaccaga ccttgagcat ttccccagtt atgcacctcc cagtggggat
     3901 cctagtattg agtcaacaga tggggctgag gatgcttcac tggcccccct ggaaagccag
     3961 cccatcacct tcacccctga ggagatggag aagtacagca agctccagca ggctgctcag
     4021 caacacatcc agcagcagct tctggccaag caagtaaagg cctttccagc ctcagctgcc
     4081 ctggccccag ccacaccagc cctgcaaccc atccacattc agcagccagc tacagcctct
     4141 gccacctcca tcacaactgt tcagcatgcc atcctacaac atcatgctgc cgcagctgct
     4201 gccgccatcg gcattcaccc tcacccccat ccccaaccac ttgcccaggt gcatcatatt
     4261 ccccagcccc atctgacccc catttctttg tcccacctca ctcactcaat catccctggc
     4321 caccctgcca cctttctcgc tagccatccc atccacatca ttcccgcctc agccatccat
     4381 cctgggccct tcacctttca ccctgtccca catgctgccc tctaccccac cctacttgct
     4441 ccacggcctg ctgcagcagc tgccactgca cttcaccttc acccactact tcaccccatc
     4501 ttctcaggtc aggacctgca acatcccccc agccatggca cgtgagttgg gggatgggat
     4561 cctaggtagg gccaggggag gagacccata aatgttccct tgggggtgtt gagccattaa
     4621 taccagcaag tagaagctgg gatgggcagt gtctgacagc caaagaattg agttttggct
     4681 tgcaggggtg ggtttagatt tgaagtttgc tttcagttta ctatcaggga tttctttttc
     4741 ctgtcctcct ctcaatttgt ccctccctct tctgtgtttc taagctaggg aacaccagta
     4801 agtgctaccc acccctctgc agcaacatct ccaaactgtc aagtttagat aatcccctcc
     4861 tccctctgct tttttcctct gctcttccct tctgtaaatt ttaaaacatt ttcctcccct
     4921 ctggccagtg ggttgtcacc agagcacttg ctgtgggccc atctggtctt gccttctcag
     4981 cgccacaggg aaggccaagc tgttctagtg gtggaagtgc caccattttg gggtagtatc
     5041 tttgaccatc tttggtgacg ttacgttatc ccaggtgagg tggaaagcgt ctcacctgga
     5101 acctgatata actcaggctg caattccatc cagttcccac atcaacggag ccacacattt
     5161 ggcactgtta tcttggtatc cctcatccca gaagaggcat ctccatatcc cagaaaagaa
     5221 gatcctatca tgaataaaag ctgtatggcc cagagaggag ctcatgtgtc taaagtgaag
     5281 ggtatatttt cttctgttgt gttgatgttt ccttcttaat ttataggatt tttttaatgt
     5341 aaaaaattgc actgaactct ataaacgtaa atgctgcttt ttgtagctca tataaaaaag
     5401 gttccatatt tgtagtatac tgcaataata ttttttacat ccagctcttt aagtgatcct
     5461 cgttctggtg gctttgtgta aatatgtttg ccctagttga attaagaaac tctaaaggtt
     5521 ataaaatgaa aacaaaaaat aaaatatttg ttttctgcta gatgcaaaac tgactaagca
     5581 tgtatatttt accaaactta tgtatttttt gaagttatga actataaaat gttaaaacat
     5641 tttttgctgg gacaaaatgt taagtaattt gcagtatgta gtgcccccag tattgggatt
     5701 tttgagctaa tgggcagcag tcagctgggg gcttctgagg gatgctcatc tttaacagtc
     5761 tccctcatgt acttttgctg ttttacacag agaaacaggt agaccccaca gaggagaagg
     5821 aggggattca acagctttat tgtctggaag cagtgagatt tggtgattgt ctggggggat
     5881 tcctgggttt ccctgggtac cttgttccag gcagtcagtc catttgcctt cctagtactt
     5941 agccccctct gacaattttt tttttaatgt gccttttggg ttggtagaaa cggaagtaga
     6001 agtaggctgg aggatgagtt gggacagtct tccttttgtt gggaggtgag cacatttaca
     6061 gatattttgc ttcatagttt ccatgccctc tgcccagctc agtttagaca gtaaacgttc
     6121 cttgtttctt ttctcccatg acactgacaa gaggaattac cacctcagcc tcttttgccc
     6181 ctcttcttgc ctttcaccca ggctctcagc cctaattaac acactgaccc aaaggtgctt
     6241 gtgttgcagg tcccatctcc tttgatgagg ttaacaattc ccactttggc attttcctaa
     6301 ctattcgtgt ggctagaatt ggttggttgg tcacttgaca agaaaaacca tacttacctg
     6361 ggccaaggct ctgttcctgc cttcgcaaat tctcaaaaga gtaaagttta tgaaaagaaa
     6421 gtggcaggca aacacaactc ttgactgccc tcccaccctc ctacctgttc agtactcatc
     6481 tgattcagaa gcatcacttc ttggataact agcactggaa aaatgaaatc atctgtgtaa
     6541 gtgaagggac tcatttttct ttgctttcag cccatgtaaa taaataatac agtattaaca
     6601 ttttcgtgct gcttcccatt agcttgtaga ttgagccata ctctggctgc ctctttgcct
     6661 tcctaggggc attttcttta acttccagaa tagtgatttt aaaagtaaaa ataaaaataa
     6721 accttactta caagcataac agattgtatt taactttatc acatatgata gagatatata
     6781 tgctgtaaaa tgagggaaag gaactttcta ataaaccaat gatttgtgga aa
//
LOCUS       NM_001002911            4832 bp    mRNA    linear   PRI 18-MAR-2023
DEFINITION  Homo sapiens G protein-coupled receptor 139 (GPR139), transcript
            variant 1, mRNA.
ACCESSION   NM_001002911
VERSION     NM_001002911.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4832)
  AUTHORS   Pallareti L, Rath TF, Trapkov B, Tsonkov T, Nielsen AT, Harpsoe K,
            Gentry PR, Brauner-Osborne H, Gloriam DE and Foster SR.
  TITLE     Pharmacological characterization of novel small molecule agonists
            and antagonists for the orphan receptor GPR139
  JOURNAL   Eur J Pharmacol 943, 175553 (2023)
   PUBMED   36736525
REFERENCE   2  (bases 1 to 4832)
  AUTHORS   Liu C, Bonaventure P, Lee G, Nepomuceno D, Kuei C, Wu J, Li Q,
            Joseph V, Sutton SW, Eckert W, Yao X, Yieh L, Dvorak C, Carruthers
            N, Coate H, Yun S, Dugovic C, Harrington A and Lovenberg TW.
  TITLE     GPR139, an Orphan Receptor Highly Enriched in the Habenula and
            Septum, Is Activated by the Essential Amino Acids L-Tryptophan and
            L-Phenylalanine
  JOURNAL   Mol Pharmacol 88 (5), 911-925 (2015)
   PUBMED   26349500
REFERENCE   3  (bases 1 to 4832)
  AUTHORS   Dvorak CA, Coate H, Nepomuceno D, Wennerholm M, Kuei C, Lord B,
            Woody D, Bonaventure P, Liu C, Lovenberg T and Carruthers NI.
  TITLE     Identification and SAR of Glycine Benzamides as Potent Agonists for
            the GPR139 Receptor
  JOURNAL   ACS Med Chem Lett 6 (9), 1015-1018 (2015)
   PUBMED   26396690
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4832)
  AUTHORS   Isberg V, Andersen KB, Bisig C, Dietz GP, Brauner-Osborne H and
            Gloriam DE.
  TITLE     Computer-aided discovery of aromatic l-alpha-amino acids as agonists
            of the orphan G protein-coupled receptor GPR139
  JOURNAL   J Chem Inf Model 54 (6), 1553-1557 (2014)
   PUBMED   24826842
REFERENCE   5  (bases 1 to 4832)
  AUTHORS   Castellani CA, Awamleh Z, Melka MG, O'Reilly RL and Singh SM.
  TITLE     Copy number variation distribution in six monozygotic twin pairs
            discordant for schizophrenia
  JOURNAL   Twin Res Hum Genet 17 (2), 108-120 (2014)
   PUBMED   24556202
REFERENCE   6  (bases 1 to 4832)
  AUTHORS   Matsuo A, Matsumoto S, Nagano M, Masumoto KH, Takasaki J, Matsumoto
            M, Kobori M, Katoh M and Shigeyoshi Y.
  TITLE     Molecular cloning and characterization of a novel Gq-coupled orphan
            receptor GPRg1 exclusively expressed in the central nervous system
  JOURNAL   Biochem Biophys Res Commun 331 (1), 363-369 (2005)
   PUBMED   15845401
  REMARK    GeneRIF: Molecular cloning of GPRg1, a Gq-coupled orphan receptor
            that is expressed in the brain.
REFERENCE   7  (bases 1 to 4832)
  AUTHORS   Gloriam DE, Schioth HB and Fredriksson R.
  TITLE     Nine new human Rhodopsin family G-protein coupled receptors:
            identification, sequence characterisation and evolutionary
            relationship
  JOURNAL   Biochim Biophys Acta 1722 (3), 235-246 (2005)
   PUBMED   15777626
REFERENCE   8  (bases 1 to 4832)
  AUTHORS   Vassilatis DK, Hohmann JG, Zeng H, Li F, Ranchalis JE, Mortrud MT,
            Brown A, Rodriguez SS, Weller JR, Wright AC, Bergmann JE and
            Gaitanaris GA.
  TITLE     The G protein-coupled receptor repertoires of human and mouse
  JOURNAL   Proc Natl Acad Sci U S A 100 (8), 4903-4908 (2003)
   PUBMED   12679517
REFERENCE   9  (bases 1 to 4832)
  AUTHORS   Takeda S, Kadowaki S, Haga T, Takaesu H and Mitaku S.
  TITLE     Identification of G protein-coupled receptor genes from the human
            genome sequence
  JOURNAL   FEBS Lett 520 (1-3), 97-101 (2002)
   PUBMED   12044878
  REMARK    Erratum:[FEBS Lett 2002 Jul 17;523(1-3):257]
REFERENCE   10  (bases 1 to 4832)
  AUTHORS   Ottolenghi C, Fellous M, Barbieri M and McElreavey K.
  TITLE     Novel paralogy relations among human chromosomes support a link
            between the phylogeny of doublesex-related genes and the evolution
            of sex determination
  JOURNAL   Genomics 79 (3), 333-343 (2002)
   PUBMED   11863363
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK291384.1, SRR14038193.2314684.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2156099,
            SAMN03267763 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000570682.2/ ENSP00000458791.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291384.1, BC137237.1 and
            AC021089.8.
            On Nov 27, 2019 this sequence version replaced NM_001002911.3.
            Summary: This gene encodes a member of the rhodopsin family of
            G-protein-coupled receptors. The encoded protein is almost
            exclusively expressed in the central nervous system. L-tryptophan
            and L-phenylalanine may act as the physiologic ligands of the
            encoded protein. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jan 2016].
            Sequence Note: The RefSeq transcript was derived from the reference
            genome assembly. The genomic coordinates were determined from
            alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..4832
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.3"
     gene            1..4832
                     /gene="GPR139"
                     /gene_synonym="GPRg1; PGR3"
                     /note="G protein-coupled receptor 139"
                     /db_xref="GeneID:124274"
                     /db_xref="HGNC:HGNC:19995"
                     /db_xref="MIM:618448"
     misc_feature    80..82
                     /gene="GPR139"
                     /gene_synonym="GPRg1; PGR3"
                     /note="upstream in-frame stop codon"
     CDS             275..1336
                     /gene="GPR139"
                     /gene_synonym="GPRg1; PGR3"
                     /note="isoform 1 is encoded by transcript variant 1; G
                     protein-coupled receptor PGR3; probable G-protein coupled
                     receptor 139; g(q)-coupled orphan receptor GPRg1"
                     /codon_start=1
                     /product="probable G-protein coupled receptor 139 isoform
                     1"
                     /protein_id="NP_001002911.1"
                     /db_xref="CCDS:CCDS32398.1"
                     /db_xref="GeneID:124274"
                     /db_xref="HGNC:HGNC:19995"
                     /db_xref="MIM:618448"
                     /translation="MEHTHAHLAANSSLSWWSPGSACGLGFVPVVYYSLLLCLGLPANI
                     LTVIILSQLVARRQKSSYNYLLALAAADILVLFFIVFVDFLLEDFILNMQMPQVPDKII
                     EVLEFSSIHTSIWITVPLTIDRYIAVCHPLKYHTVSYPARTRKVIVSVYITCFLTSIPY
                     YWWPNIWTEDYISTSVHHVLIWIHCFTVYLVPCSIFFILNSIIVYKLRRKSNFRLRGYS
                     TGKTTAILFTITSIFATLWAPRIIMILYHLYGAPIQNRWLVHIMSDIANMLALLNTAIN
                     FFLYCFISKRFRTMAAATLKAFFKCQKQPVQFYTNHNFSITSSPWISPANSHCIKMLVY
                     QYDKNGKPIKVSP"
     misc_feature    305..307
                     /gene="GPR139"
                     /gene_synonym="GPRg1; PGR3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6DWJ6.1); glycosylation site"
     misc_feature    362..424
                     /gene="GPR139"
                     /gene_synonym="GPRg1; PGR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6DWJ6.1);
                     transmembrane region"
     misc_feature    470..532
                     /gene="GPR139"
                     /gene_synonym="GPRg1; PGR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6DWJ6.1);
                     transmembrane region"
     misc_feature    581..643
                     /gene="GPR139"
                     /gene_synonym="GPRg1; PGR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6DWJ6.1);
                     transmembrane region"
     misc_feature    719..781
                     /gene="GPR139"
                     /gene_synonym="GPRg1; PGR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6DWJ6.1);
                     transmembrane region"
     misc_feature    818..880
                     /gene="GPR139"
                     /gene_synonym="GPRg1; PGR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6DWJ6.1);
                     transmembrane region"
     misc_feature    959..1021
                     /gene="GPR139"
                     /gene_synonym="GPRg1; PGR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6DWJ6.1);
                     transmembrane region"
     misc_feature    1079..1141
                     /gene="GPR139"
                     /gene_synonym="GPRg1; PGR3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6DWJ6.1);
                     transmembrane region"
     regulatory      4643..4648
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPR139"
                     /gene_synonym="GPRg1; PGR3"
                     /note="hexamer: AATAAA"
     polyA_site      4665
                     /gene="GPR139"
                     /gene_synonym="GPRg1; PGR3"
                     /note="major polyA site"
     regulatory      4809..4814
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPR139"
                     /gene_synonym="GPRg1; PGR3"
                     /note="hexamer: ATTAAA"
     polyA_site      4832
                     /gene="GPR139"
                     /gene_synonym="GPRg1; PGR3"
                     /note="major polyA site"
ORIGIN
        1 acagacgggc tccgggagcc cctcccgagg ccccgcgcag cgcgccccgc accctgcgcc
       61 ccgcgccctg cgggagggct gagccaagac tccaggcggg caggtgcgga gcgagcagag
      121 gggatcacgg ccaagggtag gagccagtcc tgcggggaga gaggcgctgc tgctccagct
      181 gccgctgcct ccgccgccgc caccaccgag ccggcgacca gagtcgggct ggcaggccgg
      241 gcgcgaagcg gcaaggggag cgaggggcgc gctcatggag cacacgcacg cccacctcgc
      301 agccaacagc tcgctgtctt ggtggtcccc cggctcggcc tgcggcttgg gtttcgtgcc
      361 cgtggtctac tacagcctct tgctgtgcct cggtttacca gcaaatatct tgacagtgat
      421 catcctctcc cagctggtgg caagaagaca gaagtcctcc tacaactatc tcttggcact
      481 cgctgctgcc gacatcttgg tcctcttttt catagtgttt gtggacttcc tgttggaaga
      541 tttcatcttg aacatgcaga tgcctcaggt ccccgacaag atcatagaag tgctggaatt
      601 ctcatccatc cacacctcca tatggattac tgtaccgtta accattgaca ggtatatcgc
      661 tgtctgccac ccgctcaagt accacacggt ctcataccca gcccgcaccc ggaaagtcat
      721 tgtaagtgtt tacatcacct gcttcctgac cagcatcccc tattactggt ggcccaacat
      781 ctggactgaa gactacatca gcacctctgt gcatcacgtc ctcatctgga tccactgctt
      841 caccgtctac ctggtgccct gctccatctt cttcatcttg aactcaatca ttgtgtacaa
      901 gctcaggagg aagagcaatt ttcgtctccg tggctactcc acggggaaga ccaccgccat
      961 cttgttcacc attacctcca tctttgccac actttgggcc ccccgcatca tcatgattct
     1021 ttaccacctc tatggggcgc ccatccagaa ccgctggctg gtacacatca tgtccgacat
     1081 tgccaacatg ctagcccttc tgaacacagc catcaacttc ttcctctact gcttcatcag
     1141 caagcggttc cgcaccatgg cagccgccac gctcaaggct ttcttcaagt gccagaagca
     1201 acctgtacag ttctacacca atcataactt ttccataaca agtagcccct ggatctcgcc
     1261 ggcaaactca cactgcatca agatgctggt gtaccagtat gacaaaaatg gaaaacctat
     1321 aaaagtatcc ccgtgattcc ataggtgtgg caactactgc ctctgtctaa tccatttcca
     1381 gatgggaagg tgtcccatcc tatggctgag cagctctcct taagagtgct aatccgattt
     1441 cctgtctccc gcagactggg caattctcag actggtagat gagaagagat ggaagagaag
     1501 aaaggagagc atgaagcttg tttttactta tgcatttatt tccacagagt cgtaatgaca
     1561 gcaaaagctc ctaccagttt gaagatgcca ttggagcttg tgtcatcatc ctgtgaccag
     1621 ttaggacaca aagtagagaa gtagtctgtg atttcgccct ggtaccatcc acagtcactg
     1681 ggaacccttc atttatggga cttaccaagc cccagtagca catagctgag cctgcactct
     1741 tcttccgaga gctgaggtca ttcatcactt ccctctgctg ttcccaggag ctaacaataa
     1801 tgactatttc aggatttttt tcaaggtgcc ctttgtccta gagagggttg tggtcttgaa
     1861 ttggctctgg cactcctagc ttcagaatga cactgtggga atagaagagt attggatccc
     1921 atccaaactg tggccagagc ttcttcagga aatctccaaa cccgcatagc tgtgacctca
     1981 aacctggggt ctaaaaggca gttttctatt tatcattatg tatagatttt ctctatctcc
     2041 tccaaaacaa agaccctgcc tggtgcgcag ggggaaagga ggaattctcg agcccagaaa
     2101 aacaaaaaaa taagcccaca cttgccattg tttcaaccca tccctgtgtc agctgcatac
     2161 gatcccgtta ctcaaaattg cttcttgtta tggtatcact ccagcttcct agagaagcct
     2221 ttttacgtgt caagttgcca accctgcctc cttgcttgct gaggccctca ccaaattgtt
     2281 ttatttgaag tgacttccga actgaattta atattcaagg gtcaggaact gcagctctgc
     2341 gggtatgaga ggaggtgttc tcagctctgt ctcacagccc agctggcgct gccatttcgc
     2401 cacaaacgca gacacaaaag gtgcccatgc tgacgcctcg tctgcccttt gacgcacatg
     2461 gctcaaaagg gggtgccagt tcttggtaaa gctatttaac ccagatcctt tgtaaaatga
     2521 taaaatataa gtgtgtttat ttattctacc cttgcctgtc caaggcaaga acatttctag
     2581 gatgtaatga ataggggcat ccctggaaat tgctacttat gtgtgcagca cacacacaca
     2641 catgattata ttcgtcttat ttagtgtttc ttttttcttc tttttttttt aacttctccc
     2701 tcagattccc agtattcgaa ttcatccctg ttttggaata aatttgccaa actgactttg
     2761 aaattgcatg acatttttgg tgaccaaaaa acggcagaca gtccacctgg aatatttagt
     2821 tcctcaggct ggatttttac tgcattttgt ccctaagttg gaagacatgt ctatcttttt
     2881 taagggaatt tgcaataaat gaatgggata agaaaaggcc ccatggcaac acaaacccta
     2941 aacttcagcc aatgctctca atactaactc aatacaaact taggtcatat tagtcctgat
     3001 gatcctaatt cttacccctt ttaaaggatc gcaatagaat ctcatcagag ccaaggatta
     3061 gattctaaag tcagtgcaaa agataaaacc ttacagagcc aaagttacct ttgcaaaaga
     3121 tcctcaaaaa agagccatgt tggagattat attccattgc tttcaaaacc taacacagct
     3181 aagtttttct ctagcattgg aacaagttgc tgtttctctg gttgatgaca agacagaatt
     3241 ggctctcatt tagggaccat attgtgtgat tctaatgtat ctgagaacat taggaccacc
     3301 ctggtgcatc aagatgcttc cactcaaaga agttcatgga agtcgtctga ctgagggaca
     3361 gatctcccat ctcccacgct ccccagggcg tatgctcatt gagtggaatg gtaagcagat
     3421 tccctcacct cccttaaatt gcatttctct ctgtctcttt tttgccaagc acgtgtaatt
     3481 gaacatgtgt tcattaaatg tgtgtgtgat gcaacgccac tacaccccct tatgaatgga
     3541 cattgaccaa aggctaccta tactgaatat atatatatat atatatttat ttatttattt
     3601 tttaaacatg tagctctgaa aaatgctagt ttgagctaca catgaatgag tcaaagtgca
     3661 atatctacaa aggttaagca attccttttt gagaatgtat ataagatgga aaatatgtat
     3721 gtgactctcc atgctctctg ctccatattt ttaattgtgt gtaacaatta attgttgatg
     3781 tttaaaaact gggtgtgcat tgggaacatt ttcctcagac actttaattt attacttctc
     3841 gatgatagag gctctaccac gtggtattgt gatctctttt cctccgaata tattttatat
     3901 tttgctacat gatatttaaa agaggtccaa ttcttgaagg cactgtagtg aattgctgtc
     3961 ttctgcttaa aatgcaaatg aatgcccatt gggttaggtt gattcatatc tcttaaaatt
     4021 tatttcaaac tatctaagga cttttattat tatttatagt aataattatg gacatcatga
     4081 aatgggtttt ttttaacttt aaaactttaa aaacttgtaa gccttttctt tcaggccagt
     4141 tttgacaata aagccttgaa ctttgaagcc tgtcatgtaa atggctgctg ctggtggcac
     4201 taaagcaatt gccttatcgt gggtttttgt ggtgcctctt tcaaagacag ttaactagct
     4261 tctctcttgc tatatgattt gtgtccttgg ttggacattg caatgatgat acgcaccacc
     4321 atgctgtgtc tttttattga acaacttgac ggctgaaatg tctcatgggg aaggaaatga
     4381 ggggaatgac agacaaacca taaaagacag accggagtgg gcacgaactt gtgtgttgca
     4441 aacaccctgc tattggaaaa gatcactttg cacatttggt acctcctggt tcaacatggg
     4501 gagcctaccc gaagtgaata aaagactcta atgttggcta ttccagttca gagaatggaa
     4561 tagaaagtta ccatagaaaa aaagcaaatg ttcatatttt cttaattaga ttatatattg
     4621 tgtttggact tgtttgtatt ataataaatt ctaatatggt gcacacttgg tgtttggtat
     4681 ttgcatctat gttcaagcaa ttgcagtatg ctgattttta ttactattat ttttaattga
     4741 taaatcataa ttgtatacat ttatgggata caatgtgatg ttttgatata tgtatacaat
     4801 gtggaataat taaatcaagc taaattaaca ca
//
LOCUS       NM_001002912            7201 bp    mRNA    linear   PRI 13-JUL-2023
DEFINITION  Homo sapiens glutamate rich 3 (ERICH3), mRNA.
ACCESSION   NM_001002912
VERSION     NM_001002912.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7201)
  AUTHORS   Chappell K, Colle R, Ait Tayeb AEK, Bouligand J, El-Asmar K,
            Deflesselle E, Feve B, Becquemont L, Corruble E and Verstuyft C.
  TITLE     The ERICH3 rs11580409 polymorphism is associated with 6-month
            antidepressant response in depressed patients
  JOURNAL   Prog Neuropsychopharmacol Biol Psychiatry 119, 110608 (2022)
   PUBMED   35878676
  REMARK    GeneRIF: The ERICH3 rs11580409 polymorphism is associated with
            6-month antidepressant response in depressed patients.
REFERENCE   2  (bases 1 to 7201)
  AUTHORS   Zhu D, Liu G, Song Y, Li S, Yang S, Hu D and Li P.
  TITLE     Enterovirus 71 VP1 promotes 5-HT release by upregulating the
            expression of ERICH3 and methyltransferase ZC3H13
  JOURNAL   Virus Res 318, 198843 (2022)
   PUBMED   35660571
  REMARK    GeneRIF: Enterovirus 71 VP1 promotes 5-HT release by upregulating
            the expression of ERICH3 and methyltransferase ZC3H13.
REFERENCE   3  (bases 1 to 7201)
  AUTHORS   Alsolami M, Kuhns S, Alsulami M and Blacque OE.
  TITLE     ERICH3 in Primary Cilia Regulates Cilium Formation and the
            Localisations of Ciliary Transport and Sonic Hedgehog Signaling
            Proteins
  JOURNAL   Sci Rep 9 (1), 16519 (2019)
   PUBMED   31712586
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.97580.1,
            SRR1660807.163174.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000326665.10/ ENSP00000322609.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC096950.2, AK127470.1, BI832067.1, BX470253.2 and AL834414.1.
            On Nov 23, 2018 this sequence version replaced NM_001002912.4.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7201
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     gene            1..7201
                     /gene="ERICH3"
                     /gene_synonym="C1orf173"
                     /note="glutamate rich 3"
                     /db_xref="GeneID:127254"
                     /db_xref="HGNC:HGNC:25346"
     CDS             274..4866
                     /gene="ERICH3"
                     /gene_synonym="C1orf173"
                     /note="RP11-653A5.1"
                     /codon_start=1
                     /product="glutamate-rich protein 3"
                     /protein_id="NP_001002912.4"
                     /db_xref="CCDS:CCDS30755.1"
                     /db_xref="GeneID:127254"
                     /db_xref="HGNC:HGNC:25346"
                     /translation="MSHSHPAGLLAAYNSLMDKHLAGYFNNTRIRRHLLRSGLITRSGR
                     ILSEKEYKLNMMKRDHQKYIRECLAQAIFHKVLDMERYHQLEIKKKLETLARKERIQRF
                     KGEHTRRSVENNMPILSPHPPVGPKSNRGHSVLVDEGHSSPLALTAPRPYTAPGNMQPP
                     IRLQPLPSNPAVETVPKVTSRSRSKTSLLENEALFPIGGKKAVMKFRNSIGNSQRMNSY
                     QLPNINSYMMPIPPPLPPTGKITRENRSETWRRRRFRPTTAPNGLEPLLTKDSRRIHKT
                     SLHSNAAITMIYLGKNVHLSSDNPDFRDEIKVYQQHCGGENLCVYKGKLLEKETFQFIS
                     KRHHGFPFSLTFFLNGMQVNRLSSCCEYKHRKGSRLGGKRGYFGFVCVERSSPCYKCII
                     AMGLDKKPSLPKSRKEKSTEKGEELKKAEGKVRKEREYVIPKRNEIKENKTSVSAKFSA
                     QEIKTGLKEVVTAVEEMTSKGKPGQEVLEDDQENTLKYEYEEDFEVDEEKQGEKSNEEG
                     QADVQMNGIPQSPLDDKKDNLDPEKESETSSQKAPDARDNVKDENDGCSESELEEDKQD
                     MKTASSTSSRSHPYSSDSEDESAVGDREAHTDSSTDESARRSSSQELSENDKPRKSHLP
                     IEESLEIEIEDQEITKADVETKPMPIDESFENVLKEGTEKGTQEIAEGLSEKSGKHVSA
                     EEKEKDKSKLWEESTAQVKDKKAGLPGLEEGGKDSLPLAYVLALGAPTMNFMVDETAAI
                     NSNKESQQLVQKTYTLEKKEAMEEDEAPQHRDADIVQGKGEAALWGEAGAVHEAPLRAW
                     KPTAEQPELAEEFTEKREIPPGIERGAEGAAEAEGVRRLGEGGSDPIGQAAAKDAVGLS
                     KDEAPEKQALMLTVLETDKAASEGEQGLEKAVLANEAAALNLEHLHEVAALREAATSEE
                     GEAEGGVAVSDVGESEEEASIDLEDTGPMEDTASKREDGSEEAILGGEEPAKERKEVMR
                     TETRLSPFTGEAEASRMQVSEGSPEEGSLAKEAFLCKEDVEGEEMVTEAEANREDDRKE
                     ILPKELDLARERRKAERPKTSLRKTDSEREEVTRANALKDEDAFKEEQKLKAEEGETET
                     EVRAEEETKAPPNEMGSDAENEAPVEASELSDNPGLLGEDSLKETVVPIFEATPGFEKS
                     LENITALRKEGGGERLSEARDTEHKDREELSSRENRALKEGHRQDGEGALAAPEAEPAG
                     KVQAPEGLIPATGQAEELAAKDHDSCAGLEGRAEGQGGVDVVLRTQEAVAEEDPIMAEK
                     FREEAVDEDPEEEEDKECTLETEAMQDRNSEGDGDMEGEGNTQKNEGMGGGRVVAVEVL
                     HGGGETAETAAEEREVLAGSETAEEKTIANKASSFSDVAEEETWHQQDELVGKTAAAGK
                     VVVEELARSGEEVPAAEEMTVTYTTEAGVGTPGALERKTSGLGQEQEEGSEGQEAATGS
                     GDGRQETGAAEKFRLGLSREGERELSPESLQAMATLPVKPDFTETREKQQHMVQGESET
                     ADVSPNNVQV"
     misc_feature    766..834
                     /gene="ERICH3"
                     /gene_synonym="C1orf173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5RHP9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1495..1560
                     /gene="ERICH3"
                     /gene_synonym="C1orf173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5RHP9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1696..2256
                     /gene="ERICH3"
                     /gene_synonym="C1orf173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5RHP9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2290..2445
                     /gene="ERICH3"
                     /gene_synonym="C1orf173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5RHP9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2590..2883
                     /gene="ERICH3"
                     /gene_synonym="C1orf173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5RHP9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3040..3711
                     /gene="ERICH3"
                     /gene_synonym="C1orf173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5RHP9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3772..4275
                     /gene="ERICH3"
                     /gene_synonym="C1orf173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5RHP9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4351..4422
                     /gene="ERICH3"
                     /gene_synonym="C1orf173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5RHP9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4546..4863
                     /gene="ERICH3"
                     /gene_synonym="C1orf173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5RHP9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      7127..7132
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERICH3"
                     /gene_synonym="C1orf173"
                     /note="hexamer: GATAAA"
     polyA_site      7155
                     /gene="ERICH3"
                     /gene_synonym="C1orf173"
     regulatory      7180..7185
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERICH3"
                     /gene_synonym="C1orf173"
                     /note="hexamer: ATTAAA"
     polyA_site      7201
                     /gene="ERICH3"
                     /gene_synonym="C1orf173"
                     /note="major polyA site"
ORIGIN
        1 agtagcgcct ccgcttctcc agaccctggg cgcttgcctc tctcctccct tagcaacagg
       61 gaagctgtgg ataccaacgg agggtgggag cccgggaggc tgcgggtagc ccgggcgccc
      121 aggggcggcg gcggcccagc ccaggtgccc gcgcacaggg gacctcggtg cggagccacc
      181 cctcgagcgc gactgtcgca gcgccagcgc gcacggggcc ccacgcaccc accctccgca
      241 cctgccgcgg ggtccaaaag ggatcctgca aaaatgagcc attctcaccc cgctgggtta
      301 cttgctgcat ataatagcct tatggataaa cacctggctg ggtattttaa caatacaagg
      361 ataaggcgtc atctcttaag atcaggactg atcacaagaa gtggaagaat actttctgaa
      421 aaagaatata aactaaatat gatgaagcgg gatcatcaaa aatatatccg ggaatgctta
      481 gcccaggcaa tttttcataa agttcttgat atggagcgtt accatcagct tgaaataaaa
      541 aagaaattgg agaccttagc taggaaggag cgaatccaga ggtttaaggg agagcacaca
      601 agaaggtctg ttgaaaataa catgccaatc ctgtctcccc acccaccagt tggcccaaag
      661 agtaatcgtg gccatagtgt tctggttgat gaaggacatt ccagtccgtt agcactgaca
      721 gcccctcgac catatactgc tccaggaaat atgcagcctc caattcgatt acagcctctt
      781 cccagtaatc ctgcagtaga aactgttcca aaggtaactt caaggtccag atcaaaaacc
      841 tcattgctgg aaaatgaagc tctgtttccc attgggggca agaaggcagt gatgaagttc
      901 aggaactcca taggcaattc acagagaatg aattcatatc aacttccaaa cattaacagt
      961 tacatgatgc ctattcctcc tccacttccc ccaactggga aaatcacaag agaaaataga
     1021 tctgaaacat ggagaaggag aagatttcgt ccaaccactg ctccaaatgg cttagaacct
     1081 cttttgacaa aggattcaag aaggattcat aaaacatcct tacatagtaa tgcagctatt
     1141 acaatgatct atttggggaa aaatgtgcac ctatcttctg ataatcctga cttccgggat
     1201 gaaattaaag tttatcagca gcactgtggt ggggaaaacc tttgtgtcta caaaggcaaa
     1261 ctacttgaaa aagagacctt tcagtttatt tccaaaaggc atcatggttt ccccttcagt
     1321 ctcacctttt tcctgaatgg gatgcaggtg aacaggttaa gctcctgttg tgaatacaag
     1381 catcggaaag gttccaggct tggaggcaaa cgaggctact ttgggtttgt gtgtgttgag
     1441 agatcatctc cttgctacaa gtgcattatt gcaatgggcc ttgacaaaaa accgtctttg
     1501 ccgaaatcta ggaaagaaaa gagcactgag aaaggagagg aactgaagaa ggctgagggg
     1561 aaagtgagga aagagagaga gtatgtgata ccaaaaagaa atgagatcaa ggagaacaaa
     1621 acctctgttt cagccaaatt ttcagctcaa gaaataaaaa cagggctcaa agaagtggta
     1681 actgctgtgg aggaaatgac aagtaaagga aaaccaggac aagaagtctt ggaagacgac
     1741 caggaaaata ctttaaaata tgagtatgaa gaagactttg aagtagatga ggagaaacaa
     1801 ggtgaaaaat ctaatgaaga aggacaggct gatgttcaaa tgaatggaat accgcagtca
     1861 cctttggatg ataaaaaaga taatttagac cctgaaaaag agagtgaaac ctcatcacag
     1921 aaggcaccag atgcccgtga caatgtgaaa gatgagaatg atggatgctc tgagagtgaa
     1981 ctggaagagg ataaacaaga tatgaaaact gcttcatcaa cctcatccag aagtcaccct
     2041 tattctagtg acagtgagga tgaatctgca gtgggggaca gggaagccca cactgacagc
     2101 agcacagatg aaagtgccag aaggtcatct tctcaggaac tgagtgaaaa tgataagcca
     2161 agaaagtctc accttccaat tgaggaatcc ttagaaattg aaattgaaga ccaagaaata
     2221 acaaaagcag atgtggagac caagccgatg ccaatagacg aaagctttga gaatgttctt
     2281 aaagaaggaa cggagaaagg aacccaagag attgcagagg gtttatctga gaagtccggg
     2341 aaacatgttt ctgcagaaga aaaggaaaag gataagagta agctttggga agaaagcact
     2401 gctcaggtga aggacaaaaa ggcaggtctc cctgggttgg aggaaggtgg aaaggattca
     2461 ttgccattag cctatgtcct ggctcttggt gcaccaacaa tgaatttcat ggtggatgaa
     2521 acagcagcaa tcaactcaaa caaggaatcc cagcaattgg tgcaaaaaac gtatacactg
     2581 gagaagaaag aagcaatgga ggaagatgaa gcgccccagc acagagatgc tgacatagta
     2641 cagggaaaag gggaggcagc actgtgggga gaagcaggag ctgttcatga ggctcccttg
     2701 agggcgtgga agccaacagc agagcagcca gaattggcag aagagtttac agaaaaaagg
     2761 gagatccctc caggcataga aaggggggca gagggagcag cagaagcaga aggggtcaga
     2821 aggctgggtg aaggggggtc agaccccata ggacaagcag cagcaaaaga tgctgtgggt
     2881 ctgagtaaag atgaggctcc tgaaaagcaa gccttgatgc tcacagtgct tgagacagac
     2941 aaagcagctt ctgaagggga acagggttta gagaaggcag tgcttgcaaa tgaagcagca
     3001 gccctgaact tggagcatct tcatgaagta gcagccctga gagaggcagc gacatcggag
     3061 gagggagagg ctgagggtgg ggtggctgtg agtgatgtcg gagaaagtga agaggaagca
     3121 tccatagacc tagaggacac aggacccatg gaggacacag catcaaagag agaggacggt
     3181 tctgaagagg caattcttgg gggagaggaa ccagccaaag agagaaaaga ggttatgaga
     3241 acagaaacac gcttgagccc cttcacagga gaggcagagg caagccggat gcaggtttcg
     3301 gagggcagcc ctgaggaagg aagccttgca aaggaagcct tcctttgcaa ggaagatgtg
     3361 gaaggggaag agatggtgac tgaggcagaa gctaataggg aagatgatag gaaagaaatt
     3421 ttacccaagg aattagattt agcaagagag cgaaggaaag ctgagaggcc aaaaacatct
     3481 ctgaggaaaa ctgactctga gagagaagag gtgacaaggg caaatgcact caaggatgaa
     3541 gatgctttta aagaagagca aaaacttaaa gcggaagaag gggaaacaga gacagaagta
     3601 agagctgagg aagagacaaa agctccccca aatgaaatgg gatctgatgc tgagaacgaa
     3661 gcacctgtgg aggcttctga gttgtctgac aatccagggc ttctaggaga agattcacta
     3721 aaagagacag tggttcccat atttgaagca acgcctggat ttgaaaagtc gctggaaaac
     3781 ataacagctc tgaggaaaga aggaggaggg gaaagactga gtgaagccag agacacagag
     3841 cacaaagaca gagaagagct gtccagcagg gagaataggg ccctgaagga agggcaccgc
     3901 caagatggag agggggcctt agcagctcct gaagctgagc cagcaggaaa ggtgcaggcc
     3961 cctgaggggc tgatcccagc cacaggccag gcagaggagc tagcagccaa agatcacgac
     4021 tcctgcgcag gactggaggg gagagctgaa gggcaaggag gagtggatgt cgtgctaagg
     4081 acccaggaag ctgttgctga ggaagatccc ataatggcag aaaagttcag ggaggaagcg
     4141 gtggatgagg acccagagga ggaagaggac aaagagtgca ctctggagac agaagcgatg
     4201 caggacagga actcggaagg ggacggggac atggaaggag aaggaaacac acaaaagaat
     4261 gagggcatgg gaggaggaag ggttgtggct gtggaagttc tacacggagg tggtgaaacg
     4321 gcagaaacag ccgcagagga gagggaggtg ttggcaggtt cggagacagc cgaggagaaa
     4381 acaatagcaa ataaagcctc ctccttttca gatgttgctg aggaagaaac ctggcaccaa
     4441 caggatgagt tagtaggaaa aacagcagct gcagggaagg tggtggtaga ggaattagca
     4501 cggagtgggg aggaagtgcc agcagcagag gagatgacag tgacatatac aacagaggct
     4561 ggggtgggca ctccaggagc cctggagcgg aagacctcag ggctaggaca ggagcaagag
     4621 gaagggtcag agggccagga ggcagccact gggagtggcg atgggaggca ggagacagga
     4681 gcagctgaaa aattccgatt aggattatca cgggagggag agagggaatt gagtccggag
     4741 agtctacagg cgatggcaac acttccagtg aagcctgatt tcactgaaac ccgagagaag
     4801 caacagcata tggtgcaagg agaaagcgag actgcagatg tttcccccaa caacgtgcag
     4861 gtctaggaga cttgctggca gacagataat ttaaagatgt cttctgaaga tgtaaagagt
     4921 ggagaaagat tcacgcaagc atctcaccag gattcttgat tttctctctc tcctctttag
     4981 ttgctggttg cgcttgtctg agatgattcc caatctgtca gccctggtca gtagctcagt
     5041 aagcaccttg agaatagctc aagtagatct gtaggaccct tcttagaagc agtggttcct
     5101 catggagaaa cttgtgaggc tgttacacat tctacacacc taacattatt ttcaaacaaa
     5161 aatgataatt ttcagatgct tgacttttac caaagatcac tggaaggccc agtcctaatg
     5221 ttaggggttt gtttaaagtc ctttttattt tacaatacag agccccagtc aattccacaa
     5281 tctcaatttc atacatggga attttattta aaaatctgtg gtttggggct ttaatgaatt
     5341 ggcctgtgaa aatgagctct aaatttcctc ccacgtacac tcaaaactca agattgctcc
     5401 aaatctctaa gttcttccag caaaagattt cttggcatgt atattcactt atacttagaa
     5461 atattcattc ttttaattta tgccagaata acaaagtgga aatcttattt caaaatgctc
     5521 tttgtttttt tgtgtgtgtt tctgtagttc tgctttctgg ggtagactag taaaatggta
     5581 gcttccagca ttttgtccct ggggccttct ttatagggcc actcaaattt aaataaaagt
     5641 agtaaataat ttagctaagt ggaataagta taataattat agtggtaagc atagcacatc
     5701 agcattatgc caacattcta gactctttag ttgatgtcat taaatggaaa agaaacttgg
     5761 attaaatgag tgtgctgctc accttcccaa gttctgttat ttcaaacctg tgaactaacc
     5821 ttgcagttca ttataaatca acagtaacaa ctgcattcta aattactccc tgatattatt
     5881 ttctagttgt gtatcagcct gtctcctagg ggttttcatt tccctgaaga catacaagtg
     5941 ccccagagcg catgtatatg tctaccattt ctctatatga gaaggtaaaa aaaatttcct
     6001 taagcagtga ttttccagcc agaatataca ttagattttc atgggacgct tttataaatg
     6061 actcaaccct tttccccacc ccagagattc agacttaatt cgttttagat ggatctacac
     6121 atcagtatat atatattttt aacttttcac ttgattcttc tctgtagcca aggttgagaa
     6181 ccgctgttct aaatcatcat ataatccatg ctggccacat tacactcaag gtccctaggg
     6241 accaggcata ttatcatagt aggtattttc cattttaatg tgtaatggag ccattcaatg
     6301 atcaaaaata cactggacca gatagtagac tggtcccttg atcagaagca tcagcacatc
     6361 agcatcacct ggaaattgtt cccagccttt gtctcctacc tactaaatta gaaactcttg
     6421 gtgggttcca gtaatccata gcttaacaag ccctgcagtt aatactgatg tacactgatg
     6481 tccaaaaact gctgtcatgg actattgatt gtattgagga ttagtctcag ttggaaagcc
     6541 aactacagag gcattttgaa ctttctttct ttgcctctct atgtctctct gtcttttcct
     6601 gtcttctgat ttatctgtct ttctttctct agtaaatggc actcaatata aaagtggtgg
     6661 agtcaatctt aaacttattt ttattatgat tgtattgata catgcacgaa gtccctctgc
     6721 cctactccct attcaaggat attactcact gcacatcata aatctccatc atctgtctta
     6781 aagttttatg agtagatttc atctacatta tattcaagtt catttattac tgagctgtat
     6841 tactgtggag ctctaacagt atttgtttcc tgatttcaaa ctcaatgcta cagagcactt
     6901 tgaatacatc acaccttata ggaaagatag taaatgtatt aatcccattg aaaaattagt
     6961 tttgtacaat gtgctaaata gtattgcatt ggattacttt tatatttaac acactccatc
     7021 aaaacatccc ataacataat tttacaatct gcatgtgaat ttaactgtga aattcagtat
     7081 tgtgatattt tgaataagtg aattctttct ctgcaaatac tatgttgata aaattacttg
     7141 tatgttcccc tgaaatggtt tgtttcctgt ttcttcatta ttaaaacata aatcaatcat
     7201 a
//
LOCUS       NM_001002913             962 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens peptidyl-tRNA hydrolase 1 homolog (PTRH1), transcript
            variant 1, mRNA.
ACCESSION   NM_001002913
VERSION     NM_001002913.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 962)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 962)
  AUTHORS   Kuroha K, Zinoviev A, Hellen CUT and Pestova TV.
  TITLE     Release of Ubiquitinated and Non-ubiquitinated Nascent Chains from
            Stalled Mammalian Ribosomal Complexes by ANKZF1 and Ptrh1
  JOURNAL   Mol Cell 72 (2), 286-302 (2018)
   PUBMED   30244831
REFERENCE   3  (bases 1 to 962)
  AUTHORS   De Pereda JM, Waas WF, Jan Y, Ruoslahti E, Schimmel P and Pascual J.
  TITLE     Crystal structure of a human peptidyl-tRNA hydrolase reveals a new
            fold and suggests basis for a bifunctional activity
  JOURNAL   J Biol Chem 279 (9), 8111-8115 (2004)
   PUBMED   14660562
  REMARK    GeneRIF: arrangement of secondary structure elements generates a
            fold not previously reported for peptidyl-trna hydrolase and
            intermolecular contacts in the crystal asymmetric unit cell suggest
            a likely surface for protein-protein interactions
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC047012.1, BX399486.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000543175.5/ ENSP00000439469.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB141384.1, BC047012.1 and BQ045289.1.
            On Jul 10, 2019 this sequence version replaced NM_001002913.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..962
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..962
                     /gene="PTRH1"
                     /gene_synonym="C9orf115; PTH1"
                     /note="peptidyl-tRNA hydrolase 1 homolog"
                     /db_xref="GeneID:138428"
                     /db_xref="HGNC:HGNC:27039"
     CDS             25..669
                     /gene="PTRH1"
                     /gene_synonym="C9orf115; PTH1"
                     /EC_number="3.1.1.29"
                     /note="isoform 1 is encoded by transcript variant 1;
                     probable peptidyl-tRNA hydrolase; PTH"
                     /codon_start=1
                     /product="peptidyl-tRNA hydrolase isoform 1"
                     /protein_id="NP_001002913.1"
                     /db_xref="CCDS:CCDS35147.1"
                     /db_xref="GeneID:138428"
                     /db_xref="HGNC:HGNC:27039"
                     /translation="MRPGGFLGAGQRLSRAMSRCVLEPRPPGKRWMVAGLGNPGLPGTR
                     HSVGMAVLGQLARRLGVAESWTRDRHCAADLALAPLGDAQLVLLRPRRLMNANGRSVAR
                     AAELFGLTAEEVYLVHDELDKPLGRLALKLGGSARGHNGVRSCISCLNSNAMPRLRVGI
                     GRPAHPEAVQAHVLGCFSPAEQELLPLLLDRATDLILDHIRERSQGPSLGP"
     regulatory      800..805
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTRH1"
                     /gene_synonym="C9orf115; PTH1"
                     /note="hexamer: ATTAAA"
     polyA_site      821
                     /gene="PTRH1"
                     /gene_synonym="C9orf115; PTH1"
                     /note="major polyA site"
     regulatory      943..948
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTRH1"
                     /gene_synonym="C9orf115; PTH1"
                     /note="hexamer: ATTAAA"
     polyA_site      962
                     /gene="PTRH1"
                     /gene_synonym="C9orf115; PTH1"
ORIGIN
        1 ggtgtcggag tgaatggggg cagcatgagg ccgggcggct ttttgggcgc cggacagcgg
       61 ctgagtagag ccatgagccg atgtgttttg gagcctcgcc ccccggggaa gcggtggatg
      121 gtggctggcc tggggaatcc cggactgccc ggcacgcgac acagcgtggg catggcggtg
      181 ctggggcagc tggcgcggcg gctgggtgtg gcggagagtt ggacgcgcga ccggcactgt
      241 gccgccgacc tcgccctggc cccgctgggg gatgcccaac tggtcctgct ccggccacgg
      301 cggcttatga acgccaacgg gcgcagcgtg gcccgggctg cggagctgtt tgggctgact
      361 gccgaggaag tctacctggt gcatgatgag ctggacaagc ccctggggag actggctctg
      421 aagctggggg gcagtgccag gggccacaat ggagtccgtt cctgcattag ctgcctcaac
      481 tccaatgcaa tgccaaggct gcgggtgggt atcgggcgcc cggcgcaccc tgaggcggtt
      541 caggcccatg tgctgggctg cttctcccct gctgagcagg agctgctgcc tctgttgctg
      601 gatcgagcca ccgacctgat cttggaccac atccgtgagc gaagccaggg gccctcactg
      661 gggccgtgac actagtggcc atggctgcct gcctgactgt agtgcccacc aacccagcca
      721 ctgccacaga gctgccacgc cagccttggt atctactttt tatacaaatc tcctctagac
      781 tgttccaggc tgcctgcgga ttaaagtggg ggtgactgtg actggaccag tccatttctg
      841 gagtaggttc ttctctctgt gtcctacttg ggacgtaggg gaacttcagg aagactaaac
      901 ttttcaagcc tttttagaga accaggggca cgcatctgta agattaaaga tgctggcttg
      961 ga
//
LOCUS       NM_001002916             915 bp    mRNA    linear   PRI 14-DEC-2022
DEFINITION  Homo sapiens H2B.W histone 1 (H2BW1), mRNA.
ACCESSION   NM_001002916
VERSION     NM_001002916.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 915)
  AUTHORS   Amor H, Jankowski PM, Dahadhah FW, Al Zoubi MS and Hammadeh ME.
  TITLE     Impact of tobacco smoking in association with H2BFWT, PRM1 and PRM2
            genes variants on male infertility
  JOURNAL   Andrologia 54 (11), e14611 (2022)
   PUBMED   36217675
  REMARK    GeneRIF: Impact of tobacco smoking in association with H2BFWT, PRM1
            and PRM2 genes variants on male infertility.
REFERENCE   2  (bases 1 to 915)
  AUTHORS   Amor H, Zeyad A and Hammadeh ME.
  TITLE     Tobacco smoking and its impact on the expression level of sperm
            nuclear protein genes: H2BFWT, TNP1, TNP2, PRM1 and PRM2
  JOURNAL   Andrologia 53 (3), e13964 (2021)
   PUBMED   33440036
  REMARK    GeneRIF: Tobacco smoking and its impact on the expression level of
            sperm nuclear protein genes: H2BFWT, TNP1, TNP2, PRM1 and PRM2.
REFERENCE   3  (bases 1 to 915)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 915)
  AUTHORS   Teimouri M, Najaran H, Hosseinzadeh A and Mazoochi T.
  TITLE     Association between two common transitions of H2BFWT gene and male
            infertility: a case-control, meta, and structural analysis
  JOURNAL   Andrology 6 (2), 306-316 (2018)
   PUBMED   29453813
  REMARK    GeneRIF: the association of -9C>T and 368A>G polymorphisms in H2BFWT
            gene with male infertility risk was assessed through a case-control
            and meta-analysis
REFERENCE   5  (bases 1 to 915)
  AUTHORS   Rafatmanesh A, Nikzad H, Ebrahimi A, Karimian M and Zamani T.
  TITLE     Association of the c.-9C>T and c.368A>G transitions in H2BFWT gene
            with male infertility in an Iranian population
  JOURNAL   Andrologia 50 (1) (2018)
   PUBMED   28370107
  REMARK    GeneRIF: It is concluded that H2BFWT gene c.-9C>T and c.368A>G
            polymorphisms might be genetic risk factors for idiopathic male
            infertility.
REFERENCE   6  (bases 1 to 915)
  AUTHORS   Shaytan AK, Landsman D and Panchenko AR.
  TITLE     Nucleosome adaptability conferred by sequence and structural
            variations in histone H2A-H2B dimers
  JOURNAL   Curr Opin Struct Biol 32, 48-57 (2015)
   PUBMED   25731851
  REMARK    Review article
REFERENCE   7  (bases 1 to 915)
  AUTHORS   Lee J, Park HS, Kim HH, Yun YJ, Lee DR and Lee S.
  TITLE     Functional polymorphism in H2BFWT-5'UTR is associated with
            susceptibility to male infertility
  JOURNAL   J Cell Mol Med 13 (8B), 1942-1951 (2009)
   PUBMED   19583817
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 915)
  AUTHORS   Boulard M, Gautier T, Mbele GO, Gerson V, Hamiche A, Angelov D,
            Bouvet P and Dimitrov S.
  TITLE     The NH2 tail of the novel histone variant H2BFWT exhibits properties
            distinct from conventional H2B with respect to the assembly of
            mitotic chromosomes
  JOURNAL   Mol Cell Biol 26 (4), 1518-1526 (2006)
   PUBMED   16449661
REFERENCE   9  (bases 1 to 915)
  AUTHORS   Churikov D, Siino J, Svetlova M, Zhang K, Gineitis A, Morton
            Bradbury E and Zalensky A.
  TITLE     Novel human testis-specific histone H2B encoded by the interrupted
            gene on the X chromosome
  JOURNAL   Genomics 84 (4), 745-756 (2004)
   PUBMED   15475252
REFERENCE   10  (bases 1 to 915)
  AUTHORS   Churikov D, Zalenskaya IA and Zalensky AO.
  TITLE     Male germline-specific histones in mouse and man
  JOURNAL   Cytogenet Genome Res 105 (2-4), 203-214 (2004)
   PUBMED   15237208
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC038109.2, BI459475.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000217926.7/ ENSP00000354723.5
            RefSeq Select criteria :: based on single protein-coding transcript
            replication-independent histone  :: PMID: 25731851
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC234782.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 4, 2020 this sequence version replaced NM_001002916.4.
            Summary: Histones are basic nuclear proteins that are responsible
            for the nucleosome structure of the chromosomal fiber in
            eukaryotes. Two molecules of each of the four core histones (H2A,
            H2B, H3, and H4) form an octamer, around which approximately 146 bp
            of DNA is wrapped in repeating units, called nucleosomes. The
            linker histone, H1, interacts with linker DNA between nucleosomes
            and functions in the compaction of chromatin into higher order
            structures. This gene encodes a replication-independent histone
            that is a member of the H2B histone family that is specifically
            expressed in sperm nuclei. A polymorphism in the 5' UTR of this
            gene is associated with male infertility.[provided by RefSeq, Oct
            2015].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..915
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.2"
     gene            1..915
                     /gene="H2BW1"
                     /gene_synonym="H2BFWT; TH2B-175"
                     /note="H2B.W histone 1"
                     /db_xref="GeneID:158983"
                     /db_xref="HGNC:HGNC:27252"
                     /db_xref="MIM:300507"
     misc_feature    49..51
                     /gene="H2BW1"
                     /gene_synonym="H2BFWT; TH2B-175"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MLRTEVPRLPRSTTAIVWSCHLMATASA"
     misc_feature    115..117
                     /gene="H2BW1"
                     /gene_synonym="H2BFWT; TH2B-175"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MATASA"
     CDS             133..576
                     /gene="H2BW1"
                     /gene_synonym="H2BFWT; TH2B-175"
                     /note="H2B histone family member W, testis specific"
                     /codon_start=1
                     /product="histone H2B type W-T"
                     /protein_id="NP_001002916.4"
                     /db_xref="CCDS:CCDS35362.2"
                     /db_xref="GeneID:158983"
                     /db_xref="HGNC:HGNC:27252"
                     /db_xref="MIM:300507"
                     /translation="MAGPSSETTSEEQLITQEPKEANSTTSQKQSKQRKRGRHGPRRCH
                     SNCRGDSFATYFRRVLKQVHQGLSLSREAVSVMDSLVHDILDRIATEAGHLARSTKRQT
                     ITAWETRMAVRLLLPGQMGKLAESEGTKAVLRTSLYAIQQQRK"
     regulatory      898..903
                     /regulatory_class="polyA_signal_sequence"
                     /gene="H2BW1"
                     /gene_synonym="H2BFWT; TH2B-175"
                     /note="hexamer: AATAAA"
     polyA_site      915
                     /gene="H2BW1"
                     /gene_synonym="H2BFWT; TH2B-175"
                     /note="major polyA site"
ORIGIN
        1 gtgacacttc atccaatcag acgtgaagct ggcccgagac gtggagccat gctgcgtacc
       61 gaagtgcccc ggcttccccg gtccacaacc gccattgtct ggtcgtgcca tctaatggcc
      121 actgcctccg ccatggctgg accttcctct gagacgacct ctgaggaaca gctgatcacc
      181 caggagccca aagaggccaa ctccactacg tcccagaagc agagcaagca gaggaagcga
      241 gggcgccatg ggccccgcag gtgccactcc aactgccgcg gggacagctt cgccacctat
      301 ttccgccggg tgctgaagca ggttcaccag ggcctcagcc tttcccggga ggccgtgagt
      361 gtcatggatt ctttggttca tgacatattg gaccgcatcg ccaccgaggc tggtcacctg
      421 gcccgctcca ccaagcgcca gaccatcact gcctgggaga cccggatggc tgtgcgcctg
      481 ctgctgccgg ggcagatggg caagctcgcc gagtccgaag gcacgaaggc tgtcctcaga
      541 acttcactgt atgccataca gcaacagaga aagtgaatac gctgatacaa gaagcaagaa
      601 tattagaaaa atgtcatgaa aatagttgaa gagaaatgct cactgcacaa ggagaccaag
      661 aaaaaccccc cacgaaatca gccacaacta aatcgctctg gacggtgccg ccaggtgacc
      721 ctacatgtcc ggagcaacac tttgaaaacc aaagacgctt ggcagaaccc tgttcctttc
      781 cagagacaga gctgtgtacc ttgtctaaaa caccgcatct cactcagtga cttatttctc
      841 attatgctaa ttgttttcgc tttaaagcgc cagtctttct gtcaaatggg acatacaaat
      901 aaatttctaa aatta
//
LOCUS       NM_001002917            8286 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily D member 1
            (OR8D1), mRNA.
ACCESSION   NM_001002917
VERSION     NM_001002917.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8286)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 8286)
  AUTHORS   Gaudin JC, Breuils L and Haertle T.
  TITLE     New GPCRs from a human lingual cDNA library
  JOURNAL   Chem Senses 26 (9), 1157-1166 (2001)
   PUBMED   11705801
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641015.1/ ENSP00000493365.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001804.5 and AP002965.3.
            On Jul 28, 2020 this sequence version replaced NM_001002917.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..8286
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..8286
                     /gene="OR8D1"
                     /gene_synonym="JCG9; OR8D3; OST004; PDJ9J14"
                     /note="olfactory receptor family 8 subfamily D member 1"
                     /db_xref="GeneID:283159"
                     /db_xref="HGNC:HGNC:8481"
     misc_feature    342..344
                     /gene="OR8D1"
                     /gene_synonym="JCG9; OR8D3; OST004; PDJ9J14"
                     /note="upstream in-frame stop codon"
     CDS             351..1277
                     /gene="OR8D1"
                     /gene_synonym="JCG9; OR8D3; OST004; PDJ9J14"
                     /note="olfactory receptor, family 8, subfamily D, member 3;
                     olfactory-like receptor JCG9; olfactory receptor OR11-301;
                     olfactory receptor 8D3; olfactory receptor-like protein
                     JCG9"
                     /codon_start=1
                     /product="olfactory receptor 8D1"
                     /protein_id="NP_001002917.1"
                     /db_xref="CCDS:CCDS31706.1"
                     /db_xref="GeneID:283159"
                     /db_xref="HGNC:HGNC:8481"
                     /translation="MTMENYSMAAQFVLDGLTQQAELQLPLFLLFLGIYVVTVVGNLGM
                     ILLIAVSPLLHTPMYYFLSSLSFVDFCYSSVITPKMLVNFLGKKNTILYSECMVQLFFF
                     VVFVVAEGYLLTAMAYDRYVAICSPLLYNAIMSSWVCSLLVLAAFFLGFLSALTHTSAM
                     MKLSFCKSHIINHYFCDVLPLLNLSCSNTHLNELLLFIIAGFNTLVPTLAVAVSYAFIL
                     YSILHIRSSEGRSKAFGTCSSHLMAVVIFFGSITFMYFKPPSSNSLDQEKVSSVFYTTV
                     IPMLNPLIYSLRNKDVKKALRKVLVGK"
     misc_feature    363..365
                     /gene="OR8D1"
                     /gene_synonym="JCG9; OR8D3; OST004; PDJ9J14"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8WZ84.1); glycosylation site"
     misc_feature    426..488
                     /gene="OR8D1"
                     /gene_synonym="JCG9; OR8D3; OST004; PDJ9J14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ84.1);
                     transmembrane region"
     misc_feature    513..575
                     /gene="OR8D1"
                     /gene_synonym="JCG9; OR8D3; OST004; PDJ9J14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ84.1);
                     transmembrane region"
     misc_feature    648..710
                     /gene="OR8D1"
                     /gene_synonym="JCG9; OR8D3; OST004; PDJ9J14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ84.1);
                     transmembrane region"
     misc_feature    768..830
                     /gene="OR8D1"
                     /gene_synonym="JCG9; OR8D3; OST004; PDJ9J14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ84.1);
                     transmembrane region"
     misc_feature    906..908
                     /gene="OR8D1"
                     /gene_synonym="JCG9; OR8D3; OST004; PDJ9J14"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8WZ84.1); glycosylation site"
     misc_feature    942..1001
                     /gene="OR8D1"
                     /gene_synonym="JCG9; OR8D3; OST004; PDJ9J14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ84.1);
                     transmembrane region"
     misc_feature    1062..1124
                     /gene="OR8D1"
                     /gene_synonym="JCG9; OR8D3; OST004; PDJ9J14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ84.1);
                     transmembrane region"
     misc_feature    1164..1226
                     /gene="OR8D1"
                     /gene_synonym="JCG9; OR8D3; OST004; PDJ9J14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ84.1);
                     transmembrane region"
ORIGIN
        1 gattggggga gctggatatc atgatctgct tcaaggtcca agagttgttt gtactattta
       61 ataaattttg atgttttact tttagccaac caaataattc agcccttggc atataaatgt
      121 gtgtataagg tagtgggaaa gactttgttc tttgttggct attacaggga tctgcgacct
      181 gagcaaagtg aacaattcct aagaaattct gtttctgtgc aggaccaagg gcccaaacca
      241 ccaagggtac cacgctttgg aaagttcaag atttacaccc atagcaacat tcttctcaga
      301 caccttcaga agcacctttt cctgccaccg taagaaatgc ctaaagaaga atgaccatgg
      361 aaaattattc tatggcagct cagtttgtct tagatggttt aacacagcaa gcagagctcc
      421 agctgcccct cttcctcctg ttcctgggaa tctatgtggt cacagtagtg ggcaacctgg
      481 gcatgattct cctgattgca gtcagccctc tacttcacac ccccatgtac tatttcctca
      541 gcagcttgtc cttcgtcgat ttctgctatt cctctgtcat tactcccaaa atgctggtga
      601 acttcctagg aaagaagaat acaatccttt actctgagtg catggtccag ctctttttct
      661 ttgtggtctt tgtggtggct gagggttacc tcctgactgc catggcatat gatcgctatg
      721 ttgccatctg tagcccactg ctttataatg cgatcatgtc ctcatgggtc tgctcactgc
      781 tagtgctggc tgccttcttc ttgggctttc tctctgcctt gactcataca agtgccatga
      841 tgaaactgtc cttttgcaaa tcccacatta tcaaccatta cttctgtgat gttcttcccc
      901 tcctcaatct ctcctgctcc aacacacacc tcaatgagct tctacttttt atcattgcgg
      961 ggtttaacac cttggtgccc accctagctg ttgctgtctc ctatgccttc atcctctaca
     1021 gcatccttca catccgctcc tcagagggcc ggtccaaagc ttttggaaca tgcagctctc
     1081 atctcatggc tgtggtgatc ttctttgggt ccattacctt catgtatttc aagccccctt
     1141 caagtaactc cctggaccag gagaaggtgt cctctgtgtt ctacaccacg gtgatcccca
     1201 tgctgaaccc tttaatatac agtctgagga ataaggatgt gaagaaagca ttaaggaagg
     1261 tcttagtagg aaaatgagtc ctgatttggg ggatttatag atgggaaaaa tgaatagttc
     1321 caatgaacat atattccttt tttctatttt catgttcttc tgttgtaaca tacataatat
     1381 ctagatttta aaaatacttt cccatctatg attgattcaa ctttctcaac aaaataaaag
     1441 aattgtgtaa agcaggtatt aacattctta tcttttgata ggaaaactaa ggtctaggta
     1501 gttttaattt cttttaccaa ttgtgataga aaagacatga gaattcagat tttctccaat
     1561 gttagtcctc tcttcctaat atcccatgtt tgcttgttga atacttgcta tgtgggaggt
     1621 actgagttgt ccactgatat gaatgctaag aggtatgtta gcctgatccc agatatctat
     1681 taattcttca gggaattaga caaatacaca agggaaaaga acagaaaaga aaagaaaaaa
     1741 gaaaagaaaa ggaaagaata gaaaagaaaa gaaaaagtta agaacaagaa tggcaattct
     1801 agtcagcagg tcttattcga atcgctttta ctattttttt ttctactcag tatattaaaa
     1861 atctctttat tttcatttcc ttgttgttct tcatggatct ggttttgttt tttttgtatt
     1921 tgtatatcta ctttaacacc acagttctac actaagggac ctctgaccat gtgttttcac
     1981 tatctattgc aatggagttg cctaaggttg aaaaaccttc ctcataggga agatataacc
     2041 cccacatttg tttcagttgg agaactgtcc tctgcagatt cctgaactga agctgtggtc
     2101 catgtttttg agcatgtgac cttacagtaa aagtaggtac caagagctct gtatacaatg
     2161 cttttcttgg gttttcacag gtcttaggtc tcatgtaaca tttccttctg tttttgtttt
     2221 tagcttttgt atgttgctgg gtagtaataa gatgcctcta ctgttctgca tccctcagct
     2281 gttttctctt cttcccagga atattccatt gaatttctag cattttaact tccatatcaa
     2341 gttagttttc ttcactctat atcacatatt aaaccattag tgtttgctga aattagttgc
     2401 ctttctccct ttactttttc tttgtttttg ccaaaataat ttttacaacc taatactcta
     2461 gattttagct taaagaatca ttccaagcaa gaaataagaa atcagtaaat tttgtatcta
     2521 ccaaaatcct actgttctaa caaagcttgt ctacctttag ctcctacatt ttgataatct
     2581 cacccagaat acatcttcct atcagtttgt tgaaccaggt cctaaacatt taccgtggcc
     2641 ttgctcacct tccccttaat acatcttctc ttctgtatgc cttgctctaa tattttttaa
     2701 tgttatctta gagtttctca gatacagtgc ctatatcttc tcaagtcctc ccattcctta
     2761 agatcttttt gagggggaca catagtactt actctttttc agcagcttta atagtgcaat
     2821 taacactttt ctgaatccag gatcctgacc ttcaaattat catttggtgc cacatagttt
     2881 tctaacctgt cctcttctct ctcttattcc agtttaatta acttatttta cttttagtct
     2941 catttttctt ctgctcttgt tagggttata aaactgaagc attctttcta aatcacttta
     3001 ttttctaagc agatttgatt cttagaaaca gggtgttcca aacccagatt ttaaaactgt
     3061 attcttagtt gttagctttg caataattca attgaactgt ttctctttct cagtatattt
     3121 agatgcaata ttatttttat gctaagaccc tcttcccccg ttatttttat ttttattttt
     3181 tattttttgg ttcatgagtg aaatctacca cccctttaaa gggaaagctc caatttagaa
     3241 gatgggtatt tgtagccctg ctcagaactt atacatttaa caaatccagg gagagcttga
     3301 gaccatttgg tgagagttaa ccctcaagca tgtggacaag ctggaaaact gtgaaaataa
     3361 ccaattatta tcccatcccc tgtgtctaaa atacctttat atgaaaatat tctcttttcc
     3421 ctataatcat atcatgactt tcttgaaaaa agcttcccct ttgtgttcaa ttttaagctg
     3481 caccaatatt ttctgattct taagtggctt tcgcagttgc taaggttgct caaactatcc
     3541 agcctacaat tacttaggat tataggaccc agggctttgt ggagcctcac tttgctcaca
     3601 tttttcagaa gacagccttt cctgaggcat ttgccttttg cttagggcct agcactagca
     3661 gcatgatctc caggggaatg aatctgtgct cttctaaagt tattcactta tttgtaaaca
     3721 actcttctgt atatgcacca gtggaagtta aaatcttaca ttgtcagagg tcaggaacca
     3781 cagctgcctg ctgggatcac tacagttaaa agttacacat aaactgtaaa ctataaaata
     3841 ttgcaaaata aatgtcactg catgctcctg aggtcaaaat cctctctcct catggaaagt
     3901 cccaaacttg taagtacact tttgtactta aatctacttt tgctgttaag ttcttcataa
     3961 ccctggtcca aaccaccaga tactggttgt ttggcaaggt atattttggg gcaaataaat
     4021 ttcttaatac caagctctag cattagacaa aattgccact tgaaccatag aaaatgctgg
     4081 atccctgtag gtctctatta gtagaggtag aatttcatag gcaaggataa ccaaggatat
     4141 attgtttcta aaatatgcta actctcaaaa agaacaacaa aaaagagaac catttctttt
     4201 tcacaactaa tcatcagaaa agtcatccca ccttcctggg gaaagtgagt aaaggtgtga
     4261 aacagaggcg ggagtattag agtaataggt gttcctcctc agggatggga acatcagaag
     4321 ccaggagagg tgtctcattc ttcctacata taccctagga tttagaaaaa cagattccaa
     4381 tcagttaaga gtaaaaaaaa tggcaaggct attttagaga aaagtagaat caagaaatac
     4441 agaagattca aaattataat tgggaaattc gaagtaactc ttaagaaaag tgacacaaaa
     4501 tcctttttct gctgaaaaaa ccctcatcag cacactatta ggatgttttt gtcttactac
     4561 agaagggaaa ataaggacaa tggagaagag aaaaagaatt ttagctgacc aaaataaaaa
     4621 tacgtaaatg gtgatttgaa gttaatacaa aaaagattaa tatcccatag aaaagtatgc
     4681 agaagtttca ctgtgaatat tatatgaata ttatatatat aatattcatt atatatatat
     4741 agtagctatt aaacttggtc aaccatacta aaaataaaaa ttcaaataaa ataagtcata
     4801 tacttattta cctgtgaaat ggtaaataat attttaataa atcttaaagg tgaggtaaac
     4861 aagaatgata atatatatag ataactgtat taatttctgt aagacaggtt gataatatat
     4921 atcaaataat atacgccaaa taattccaca caattttacc acgttattca atttctaggc
     4981 atgcatactt aagaaataaa agtgacattg tcaaaggcag agctataaat atattgacag
     5041 taacaaaata atgaattgag ttaaatgttc ttcaaagtta taggtttgag taagattcag
     5101 atatccagta gaataaatat ggtatcatta aaataatttt gtgaaatagt actggcaggg
     5161 acaatatgca aagtatatag taagttaaga agacgggcat gataaatgat actgatatgt
     5221 atgacggctt gaatgaaaaa tccgtagtgc tttaacagac attctttctt ttcatattga
     5281 aagaagtgtg tagcataaaa taaatgagga taatgtttta ggggtgtttt aacattattt
     5341 ttgtgtgtct gtgttgaata caggggattc aaagggcttt atcttctact ccaatcagtt
     5401 tttaagatat tcctccactg cattttaatg aattttatat atgtatacac agaaaatgca
     5461 ccaagagtat agctctttaa attgctaatg atgtttatat ctatttagtg actctccagg
     5521 taaagatata gaatattagc atcactcctg gaggccccct tttgcttttc ccgagtcaat
     5581 acccatcttc aagaagtacc cactatattg acttgtacaa ttggtcattt tctttttttt
     5641 ttgaactgta tacaaacttt tctcatactc cattataatc cttccctcaa cctttttcca
     5701 ccctttccta ggcaatcatg aatccacttt tgtcattgta gattattagc atttccaaga
     5761 attttgtgtt tataaggcca tacagtatat actctttact tgatgtcttt tattcggcat
     5821 aattactttc agattcacca tgatttgcat gcatcatagc actatcaact tgccttgaca
     5881 ttttcctttg ttaagatcaa ctgaccatct atatagggac ctactttgta ccctatattc
     5941 tattgtctat ctttattatt ttcaggcata cgcactgatg gaaatcaatg aggaaaagaa
     6001 aatctgttca acagattgtt ctgattgact agatgtctgt atccaaaagc tgaacctgat
     6061 tcaatgcctg acaccataca cacacactaa ctagagattg attacagaag ggagcataag
     6121 agctatcttt gtgactggga ggtagtcaaa catttcttac atagaatacc aagaaaaatg
     6181 ataaatgtga ctccatcaaa atttaaaatt ttttattatt aaaagacact attttagaat
     6241 aaaaaaagtg cacacacagg ctggaaaaat aatgtacaca cacacatata caaacacaaa
     6301 acaaatgtgt ccaacaaatg acttatatcc aacttttata aataattcct acaaccaatt
     6361 attaaaaaaa tgagtaaaag aaactttata tgaactgtat actagggctt acaaatacat
     6421 taggccattt caatattaat agtcatcagg aaaattcaaa ttaaaaccat gaagagatac
     6481 cattacacac ccactagaag ggttaaaatt taaaagatta aaatatccag tattggagag
     6541 gattcagaga aatggcatct ctcaaatttt acatgttgta gtgtaaaatg ttaaacagtg
     6601 cagaaataaa aatatactag aatgtctatt aaatctttat tcataatagc aaaaaaatca
     6661 agaaatgtcc gtcatctgat aaatggagaa ggaaattatg gaatatatgt ataatggaac
     6721 accacttagt aataaaaagg gacaatctat cgaggcatgc aaccaaacag atgaatatca
     6781 tttaataata tgtctaggcc aagaaaccac aaacacaaga gtacacacag tataaatcaa
     6841 tttatttcaa gtgcaagaat aggcaatata aacctgtgaa gataaaattc ataatgatga
     6901 ttgtttcttt ggaagaagta aatactcata ctggatataa acacaaaaaa actttctcag
     6961 gtgatagcaa tggcctacat tagagactga catgttttct ctaaaaaacc agataacaaa
     7021 tagtttagag ttcacagacc ataaggattc cattgtaact actgaactat tatattgtaa
     7081 tgaatgaatg tggtcttgta caatacaatt ttatttataa acactaaaat ttaaatttta
     7141 tgtaatttta ttttgatttt tttcaaccat ttaaaaatgt aaaaagtgat attagctcat
     7201 aaacaatact aaactctggg ctggatttgc cccataaccc atattttgca ccactactct
     7261 ttatcttgat aggtgtgcta gttatttgaa tgaatgtatt tatcaaaact cattgaatta
     7321 tatacttaat acctgttcat tttgctatat gtaattattt tgaaatgatt ataatataaa
     7381 aataagaaaa cagaggactt tatgacttca agtgagcata atttttaaag aaaatgaatc
     7441 ataaatacag ccacattaaa aaactttaca ataaaaggca tcatacataa agctaaaggc
     7501 aagctacaaa tcagaaaagg ataactgaaa cacaaaataa ttgatatcta taattttaaa
     7561 agccccacaa attaataagc aaaggacaaa aagcctaata gaaaaccagg caaaagatat
     7621 aagcagcaat ttacattgaa aacagaacgt ccagtagcca ataaacaaat ggaacaatgt
     7681 ttaacttcac agaatcagcc aaatacgacc gtttactata ctacatgtca aggactcata
     7741 tggtttagcc ctgtgtccac atccacgtgt cgacagaggg acctgtaatc cccgtgtgtc
     7801 aagagaggga ggtggttgga ttatgggggc agtttcctcc atgctgttct tgtaatagtg
     7861 agtgaattct cacaagatct gatggtttta taaatggtag tttttcctgc tctgtctcac
     7921 acctcccgcc atgtgagatg tgcctgcgtt cccttctgct atgattgtaa gtttcctgag
     7981 gcttccccag ccatgtagaa ctgtgagtca attaaacctc tcttctttat gaataaccta
     8041 gtctccagca gttccttata gcaatgtgaa aacggattaa tacagactca tttctgaact
     8101 gtctgtagtt ttggtctcct tattccttcc tagtaaggag ttcatgagta aatcaggaga
     8161 caggaagccc tggctccaga ttcacttgtg aaactgcatt cctgcatata ctcatttgta
     8221 aagaaatcac actactccaa ttcttccttt cttataaaac cgttatgaga gtaagataag
     8281 ttaaat
//
LOCUS       NM_001002918             936 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily D member 2
            (OR8D2), mRNA.
ACCESSION   NM_001002918
VERSION     NM_001002918.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 936)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 936)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 936)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   4  (bases 1 to 936)
  AUTHORS   Gaudin JC, Breuils L and Haertle T.
  TITLE     New GPCRs from a human lingual cDNA library
  JOURNAL   Chem Senses 26 (9), 1157-1166 (2001)
   PUBMED   11705801
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AF162668.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000624618.2/ ENSP00000485661.1
            polymorphic pseudogene   :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF162668.1.
            On Aug 30, 2004 this sequence version replaced XM_208541.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be non-functional as an olfactory receptor
            according to the Classifier for Olfactory Receptor Pseudogenes.
FEATURES             Location/Qualifiers
     source          1..936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..936
                     /gene="OR8D2"
                     /gene_synonym="JCG2"
                     /note="olfactory receptor family 8 subfamily D member 2"
                     /db_xref="GeneID:283160"
                     /db_xref="HGNC:HGNC:8482"
     CDS             1..936
                     /gene="OR8D2"
                     /gene_synonym="JCG2"
                     /note="olfactory receptor-like protein JCG2; olfactory
                     receptor OR11-303"
                     /codon_start=1
                     /product="olfactory receptor 8D2"
                     /protein_id="NP_001002918.1"
                     /db_xref="GeneID:283160"
                     /db_xref="HGNC:HGNC:8482"
                     /translation="MATSNHSSGAEFILAGLTQRPELQLPLFLLFLGIYVVTVVGNLGM
                     IFLIALSSQLYPPVYYFLSHLSFIDLCYSSVITPKMLVNFVPEENIISFLECITQLYFF
                     LIFVIAEGYLLTAMEYDRYVAICRPLLYNIVMSHRVCSIMMAVVYSLGFLWATVHTTRM
                     SVLSFCRSHTVSHYFCDILPLLTLSCSSTHINEILLFIIGGVNTLATTLAVLISYAFIF
                     SSILGIHSTEGQSKAFGTCSSHLLAVGIFFGSITFMYFKPPSSTTMEKEKVSSVFYITI
                     IPMLNPLIYSLRNKDVKNALKKMTRGRQSS"
     misc_feature    13..15
                     /gene="OR8D2"
                     /gene_synonym="JCG2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9GZM6.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR8D2"
                     /gene_synonym="JCG2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZM6.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR8D2"
                     /gene_synonym="JCG2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZM6.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR8D2"
                     /gene_synonym="JCG2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZM6.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR8D2"
                     /gene_synonym="JCG2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZM6.1);
                     transmembrane region"
     misc_feature    592..651
                     /gene="OR8D2"
                     /gene_synonym="JCG2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZM6.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR8D2"
                     /gene_synonym="JCG2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZM6.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR8D2"
                     /gene_synonym="JCG2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9GZM6.1);
                     transmembrane region"
ORIGIN
        1 atggctactt caaaccattc ttcaggggct gagtttatcc tggcaggctt gacacaacgc
       61 ccagaacttc aactgccact cttcctcctg ttccttggaa tatatgtggt cacagtggtg
      121 gggaacctgg gcatgatctt cttaattgct ctcagttctc aactttaccc tccagtgtat
      181 tattttctca gtcatttgtc tttcattgat ctctgctact cctctgtcat tacccctaag
      241 atgctggtga actttgttcc agaggagaac attatctcct ttctggaatg cattactcaa
      301 ctttatttct tccttatttt tgtaattgca gaaggctacc ttctgacagc catggaatat
      361 gaccgttatg ttgctatctg tcgcccactg ctttacaata ttgtcatgtc ccacagggtc
      421 tgttccataa tgatggctgt ggtatactca ctgggttttc tgtgggccac agtccatact
      481 acccgcatgt cagtgttgtc attctgtagg tctcatacgg tcagtcatta tttttgtgat
      541 attctcccct tattgactct gtcttgctcc agcacccaca tcaatgagat tctgctgttc
      601 attattggag gagttaatac cttagcaact acactggcgg tccttatctc ttatgctttc
      661 attttctcta gtatccttgg tattcattcc actgaggggc aatccaaagc ctttggcact
      721 tgtagctccc atctcttggc tgtgggcatc ttttttgggt ctataacatt catgtatttc
      781 aagccccctt ccagcactac tatggaaaaa gagaaggtgt cttctgtgtt ctacatcaca
      841 ataatcccca tgctgaatcc tctaatctat agcctgagga acaaggatgt gaaaaatgca
      901 ctgaagaaga tgactagggg aaggcagtca tcctga
//
LOCUS       NM_001002919            1184 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens ALK and LTK ligand 2 (ALKAL2), mRNA.
ACCESSION   NM_001002919
VERSION     NM_001002919.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1184)
  AUTHORS   Mazzeschi M, Sgarzi M, Romaniello D, Gelfo V, Cavallo C, Ambrosi F,
            Morselli A, Miano C, Laprovitera N, Girone C, Ferracin M, Santi S,
            Rihawi K, Ardizzoni A, Fiorentino M, D'Uva G, Gyorffy B, Palmer R
            and Lauriola M.
  TITLE     The autocrine loop of ALK receptor and ALKAL2 ligand is an
            actionable target in consensus molecular subtype 1 colon cancer
  JOURNAL   J Exp Clin Cancer Res 41 (1), 113 (2022)
   PUBMED   35351152
  REMARK    GeneRIF: The autocrine loop of ALK receptor and ALKAL2 ligand is an
            actionable target in consensus molecular subtype 1 colon cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1184)
  AUTHORS   Reshetnyak AV, Rossi P, Myasnikov AG, Sowaileh M, Mohanty J, Nourse
            A, Miller DJ, Lax I, Schlessinger J and Kalodimos CG.
  TITLE     Mechanism for the activation of the anaplastic lymphoma kinase
            receptor
  JOURNAL   Nature 600 (7887), 153-157 (2021)
   PUBMED   34819673
REFERENCE   3  (bases 1 to 1184)
  AUTHORS   De Munck S, Provost M, Kurikawa M, Omori I, Mukohyama J, Felix J,
            Bloch Y, Abdel-Wahab O, Bazan JF, Yoshimi A and Savvides SN.
  TITLE     Structural basis of cytokine-mediated activation of ALK family
            receptors
  JOURNAL   Nature 600 (7887), 143-147 (2021)
   PUBMED   34646012
REFERENCE   4  (bases 1 to 1184)
  AUTHORS   Borenas M, Umapathy G, Lai WY, Lind DE, Witek B, Guan J,
            Mendoza-Garcia P, Masudi T, Claeys A, Chuang TP, El Wakil A, Arefin
            B, Fransson S, Koster J, Johansson M, Gaarder J, Van den Eynden J,
            Hallberg B and Palmer RH.
  TITLE     ALK ligand ALKAL2 potentiates MYCN-driven neuroblastoma in the
            absence of ALK mutation
  JOURNAL   EMBO J 40 (3), e105784 (2021)
   PUBMED   33411331
  REMARK    GeneRIF: ALK ligand ALKAL2 potentiates MYCN-driven neuroblastoma in
            the absence of ALK mutation.
REFERENCE   5  (bases 1 to 1184)
  AUTHORS   Reshetnyak AV, Mohanty J, Tome F, Puleo DE, Plotnikov AN, Ahmed M,
            Kaur N, Poliakov A, Cinnaiyan AM, Lax I and Schlessinger J.
  TITLE     Identification of a biologically active fragment of ALK and
            LTK-Ligand 2 (augmentor-alpha)
  JOURNAL   Proc Natl Acad Sci U S A 115 (33), 8340-8345 (2018)
   PUBMED   30061385
REFERENCE   6  (bases 1 to 1184)
  AUTHORS   Fadeev A, Mendoza-Garcia P, Irion U, Guan J, Pfeifer K, Wiessner S,
            Serluca F, Singh AP, Nusslein-Volhard C and Palmer RH.
  TITLE     ALKALs are in vivo ligands for ALK family receptor tyrosine kinases
            in the neural crest and derived cells
  JOURNAL   Proc Natl Acad Sci U S A 115 (4), E630-E638 (2018)
   PUBMED   29317532
  REMARK    GeneRIF: activation of ALK/LTK family receptors by small ALKAL
            proteins (FAM150, AUG) conserved in vertebrates
REFERENCE   7  (bases 1 to 1184)
  AUTHORS   Reshetnyak AV, Murray PB, Shi X, Mo ES, Mohanty J, Tome F, Bai H,
            Gunel M, Lax I and Schlessinger J.
  TITLE     Augmentor alpha and beta (FAM150) are ligands of the receptor
            tyrosine kinases ALK and LTK: Hierarchy and specificity of
            ligand-receptor interactions
  JOURNAL   Proc Natl Acad Sci U S A 112 (52), 15862-15867 (2015)
   PUBMED   26630010
  REMARK    GeneRIF: Data show FAM150B, which was named as augmentor-alpha
            (AUG-alpha), binds and activtes both anaplastic lymphoma kinase
            (ALK) and tyrosine kinase (LTK).
REFERENCE   8  (bases 1 to 1184)
  AUTHORS   Guan J, Umapathy G, Yamazaki Y, Wolfstetter G, Mendoza P, Pfeifer K,
            Mohammed A, Hugosson F, Zhang H, Hsu AW, Halenbeck R, Hallberg B and
            Palmer RH.
  TITLE     FAM150A and FAM150B are activating ligands for anaplastic lymphoma
            kinase
  JOURNAL   Elife 4, e09811 (2015)
   PUBMED   26418745
  REMARK    GeneRIF: In conclusion, these data show that ALK is robustly
            activated by the FAM150A/B ligands. Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1184)
  AUTHORS   Zhang H, Pao LI, Zhou A, Brace AD, Halenbeck R, Hsu AW, Bray TL,
            Hestir K, Bosch E, Lee E, Wang G, Liu H, Wong BR, Kavanaugh WM and
            Williams LT.
  TITLE     Deorphanization of the human leukocyte tyrosine kinase (LTK)
            receptor by a signaling screen of the extracellular proteome
  JOURNAL   Proc Natl Acad Sci U S A 111 (44), 15741-15745 (2014)
   PUBMED   25331893
  REMARK    GeneRIF: Only two related secreted factors, FAM150A and FAM150B
            (family with sequence similarity 150 member A and member B),
            stimulated LTK phosphorylation.
REFERENCE   10  (bases 1 to 1184)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC033490.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000403610.9/ ENSP00000384604.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC033490.1, AI300876.1 and AC079779.7.
            On Nov 22, 2018 this sequence version replaced NM_001002919.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1184
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.3"
     gene            1..1184
                     /gene="ALKAL2"
                     /gene_synonym="AUGA; FAM150B; PRO1097; RGPG542"
                     /note="ALK and LTK ligand 2"
                     /db_xref="GeneID:285016"
                     /db_xref="HGNC:HGNC:27683"
                     /db_xref="MIM:619671"
     misc_feature    20..22
                     /gene="ALKAL2"
                     /gene_synonym="AUGA; FAM150B; PRO1097; RGPG542"
                     /note="upstream in-frame stop codon"
     CDS             137..595
                     /gene="ALKAL2"
                     /gene_synonym="AUGA; FAM150B; PRO1097; RGPG542"
                     /note="protein FAM150B; AUG-alpha; family with sequence
                     similarity 150 member B; augmentor alpha; augmentor-beta"
                     /codon_start=1
                     /product="ALK and LTK ligand 2 precursor"
                     /protein_id="NP_001002919.2"
                     /db_xref="CCDS:CCDS46218.1"
                     /db_xref="GeneID:285016"
                     /db_xref="HGNC:HGNC:27683"
                     /db_xref="MIM:619671"
                     /translation="MRGPGHPLLLGLLLVLGAAGRGRGGAEPREPADGQALLRLVVELV
                     QELRKHHSAEHKGLQLLGRDCALGRAEAAGLGPSPEQRVEIVPRDLRMKDKFLKHLTGP
                     LYFSPKCSKHFHRLYHNTRDCTIPAYYKRCARLLTRLAVSPVCMEDKQ"
     sig_peptide     137..208
                     /gene="ALKAL2"
                     /gene_synonym="AUGA; FAM150B; PRO1097; RGPG542"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      1146..1151
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALKAL2"
                     /gene_synonym="AUGA; FAM150B; PRO1097; RGPG542"
                     /note="hexamer: AATAAA"
     regulatory      1163..1168
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALKAL2"
                     /gene_synonym="AUGA; FAM150B; PRO1097; RGPG542"
                     /note="hexamer: AATGAA"
     polyA_site      1168
                     /gene="ALKAL2"
                     /gene_synonym="AUGA; FAM150B; PRO1097; RGPG542"
                     /note="major polyA site"
     polyA_site      1184
                     /gene="ALKAL2"
                     /gene_synonym="AUGA; FAM150B; PRO1097; RGPG542"
ORIGIN
        1 gtgggcggga cctcgggcgt gatcgtcgag gagaccgcgg ctccctcacc tgccggcttg
       61 ttcctcgggg tccgcggagc gagcccagct ctcggcgcgt gtcggagtct cccagccccg
      121 cggccccgag cgcacgatgc gcggacccgg gcaccccctc ctcctggggc tgctgctggt
      181 gctgggggcg gcggggcgcg gccggggggg cgcggagccc cgggagccgg cggacggaca
      241 ggcgctgctg cggctggtgg tggaactcgt ccaggagctg cggaagcacc actcggcgga
      301 gcacaagggc ctgcagctcc tcgggcggga ctgcgccctg ggccgcgcgg aggcggcggg
      361 gctggggcct tcgccggagc agcgagtgga aattgttcct cgagatctga ggatgaagga
      421 caagtttcta aaacacctta caggccctct ttattttagt ccaaagtgca gcaaacactt
      481 ccatagactt tatcacaaca ccagagactg caccattcct gcatactata aaagatgcgc
      541 caggcttctt acccggctgg ctgtcagtcc agtgtgcatg gaggataagc agtgagcaga
      601 ccgtacagga gcagcacacc aggagccatg agaagtgcct tggaaaccaa cagggaaaca
      661 gaactatctt tatacacatc ccctcatgga caagagattt atttttgcag acagactctt
      721 ccataagtcc tttgagtttt gtatgttgtt gacagtttgc agatatatat tcgataaatc
      781 agtgtacttg acagtgttat ctgtcactta tttaaaaaaa aaacacaaaa ggaatgctcc
      841 acatttgacg tgtagtgcta taaaacacag aatatttcat tgtcttcatt aggtgaaatc
      901 gcaaaaaata tttctttaga aacataagca gaatcttaaa gtatattttc atataacata
      961 atttgatatt ctgtattact ttcactgtta aattctcaga gtattatttg gaacggcatg
     1021 aaaaattaaa atttcggtca tgttttagag acagtggagt gtaaatctgt ggctaattct
     1081 gttggtcgtt tgtattataa atgtaaaata gtattccagc tattgtgcaa tatgtaaata
     1141 gtgtaaataa acacaagtaa taaatgaagt gtttgttata atga
//
LOCUS       NM_001002923            1125 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens IGF like family member 4 (IGFL4), transcript variant 1,
            mRNA.
ACCESSION   NM_001002923
VERSION     NM_001002923.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1125)
  AUTHORS   Emtage P, Vatta P, Arterburn M, Muller MW, Park E, Boyle B, Hazell
            S, Polizotto R, Funk WD and Tang YT.
  TITLE     IGFL: A secreted family with conserved cysteine residues and
            similarities to the IGF superfamily
  JOURNAL   Genomics 88 (4), 513-520 (2006)
   PUBMED   16890402
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY672114.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA1968832
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000377697.2/ ENSP00000366926.1
            RefSeq Select criteria :: based on manual assertion, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007785.1.
            On Jul 28, 2020 this sequence version replaced NM_001002923.2.
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1125
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..1125
                     /gene="IGFL4"
                     /note="IGF like family member 4"
                     /db_xref="GeneID:444882"
                     /db_xref="HGNC:HGNC:32931"
                     /db_xref="MIM:610547"
     misc_feature    35..37
                     /gene="IGFL4"
                     /note="upstream in-frame stop codon"
     CDS             41..415
                     /gene="IGFL4"
                     /note="insulin growth factor-like family member 4"
                     /codon_start=1
                     /product="insulin growth factor-like family member 4
                     precursor"
                     /protein_id="NP_001002923.1"
                     /db_xref="CCDS:CCDS33057.1"
                     /db_xref="GeneID:444882"
                     /db_xref="HGNC:HGNC:32931"
                     /db_xref="MIM:610547"
                     /translation="MVPRISAAIFIFELLGSNSEGVTDLRLWLCQPAPRCGEWTYNPLE
                     QCCDDGVILDLNQTRLCGSSCTFWPCFQHCCLESLGSQNQTVVRFKVPGMKPDCKSSPI
                     TRICAQEYHPKSPVSRSDLI"
     sig_peptide     41..97
                     /gene="IGFL4"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q6B9Z1.1)"
     mat_peptide     98..412
                     /gene="IGFL4"
                     /product="Insulin growth factor-like family member 4.
                     /id=PRO_0000045062"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6B9Z1.1)"
     misc_feature    209..211
                     /gene="IGFL4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6B9Z1.1); glycosylation site"
     misc_feature    290..292
                     /gene="IGFL4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6B9Z1.1); glycosylation site"
ORIGIN
        1 ccactgctgc tccctcgtcc gctgctctga agcctaaccc atggtgccca gaatttctgc
       61 tgccatcttc atttttgaac ttttgggttc aaactcagaa ggagtcacag atcttagact
      121 gtggctatgc cagccagcgc ccaggtgcgg ggagtggacc tacaacccct tggagcagtg
      181 ctgtgatgac ggtgtcatcc tagacttgaa ccagacccgg ctctgcggct ccagctgcac
      241 cttctggccc tgcttccagc actgctgcct ggagtctttg ggctctcaga accagacagt
      301 tgtgaggttc aaggtcccag gcatgaagcc agattgcaag tcctccccta tcaccaggat
      361 ctgtgcccag gaataccacc caaaaagccc tgtgtcaaga tctgacctca tctagactgt
      421 tctggggtag cagagtcaca gatcactcta gaatctaata cttggtaatt atactgcatt
      481 gattttgttg ttgttgtgac agagtttcac tctgtccccc aggctggagt gcaaataagc
      541 aacttcagca aagtctcagg atacaaaatc aatgtacaaa aatcacaagc attcttatac
      601 accaacaaca gacaaacaga gagccaaatc atgagtgaac tcccattcac aattgcttca
      661 cagagaataa aatacctagg aatccaactt acaagggatg tgaaggacct cttcaaggag
      721 aactacaaac cactgctcaa ggaaataaaa gaggatacaa acaaatggaa gaacattcca
      781 tgctcatggg taggaagaat caatatcgtg aaaatggcca tactgcccaa ggtaatttac
      841 agattcaatg ccatccccat caagctacca atgactttct tcacagaatt ggaaaaaact
      901 actttaaagt tcatatggaa ccaaaaaaga gccctcatcg ccaagtcaat cctaagccaa
      961 aagaacaaag ctggaggcat cacactacct gacttcaaac tatactataa ggctacagta
     1021 accaaaacag catggtactg gtaccaaaac agagatatag atcaatggaa cagaacagag
     1081 ccctcagaaa taacgccgca tatctacaac tatctgatct ttgac
//
LOCUS       NM_001002925             951 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily AP member 2
            (OR5AP2), mRNA.
ACCESSION   NM_001002925
VERSION     NM_001002925.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 951)
  AUTHORS   Yang Q, Kathiresan S, Lin JP, Tofler GH and O'Donnell CJ.
  TITLE     Genome-wide association and linkage analyses of hemostatic factors
            and hematological phenotypes in the Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S12 (2007)
   PUBMED   17903294
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136989.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000544374.3/ ENSP00000442701.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065854.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..951
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..951
                     /gene="OR5AP2"
                     /gene_synonym="OR9J1"
                     /note="olfactory receptor family 5 subfamily AP member 2"
                     /db_xref="GeneID:338675"
                     /db_xref="HGNC:HGNC:15258"
     CDS             1..951
                     /gene="OR5AP2"
                     /gene_synonym="OR9J1"
                     /note="olfactory receptor, family 9, subfamily J, member 1"
                     /codon_start=1
                     /product="olfactory receptor 5AP2"
                     /protein_id="NP_001002925.1"
                     /db_xref="CCDS:CCDS31534.1"
                     /db_xref="GeneID:338675"
                     /db_xref="HGNC:HGNC:15258"
                     /translation="MRLMKEVRGRNQTEVTEFLLLGLSDNPDLQGVLFALFLLIYMANM
                     VGNLGMIVLIKIDLCLHTPMYFFLSSLSFVDASYSSSVTPKMLVNLMAENKAISFHGCA
                     AQFYFFGSFLGTECFLLAMMAYDRYAAIWNPLLYPVLVSGRICFLLIATSFLAGCGNAA
                     IHTGMTFRLSFCGSNRINHFYCDTPPLLKLSCSDTHFNGIVIMAFSSFIVISCVMIVLI
                     SYLCIFIAVLKMPSLEGRHKAFSTCASYLMAVTIFFGTILFMYLRPTSSYSMEQDKVVS
                     VFYTVIIPVLNPLIYSLKNKDVKKALKKILWKHIL"
     misc_feature    31..33
                     /gene="OR5AP2"
                     /gene_synonym="OR9J1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGF4.1); glycosylation site"
     misc_feature    103..165
                     /gene="OR5AP2"
                     /gene_synonym="OR9J1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF4.1);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR5AP2"
                     /gene_synonym="OR9J1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF4.1);
                     transmembrane region"
     misc_feature    313..375
                     /gene="OR5AP2"
                     /gene_synonym="OR9J1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF4.1);
                     transmembrane region"
     misc_feature    406..468
                     /gene="OR5AP2"
                     /gene_synonym="OR9J1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF4.1);
                     transmembrane region"
     misc_feature    631..693
                     /gene="OR5AP2"
                     /gene_synonym="OR9J1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF4.1);
                     transmembrane region"
     misc_feature    736..798
                     /gene="OR5AP2"
                     /gene_synonym="OR9J1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF4.1);
                     transmembrane region"
     misc_feature    835..897
                     /gene="OR5AP2"
                     /gene_synonym="OR9J1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF4.1);
                     transmembrane region"
ORIGIN
        1 atgagactta tgaaagaggt tcgaggcaga aatcaaacag aagtaacaga atttctcctc
       61 ttaggacttt ccgacaatcc agatctacaa ggagtcctct ttgcattgtt tctgttgatc
      121 tatatggcaa acatggtggg caatttgggg atgattgtat tgattaagat tgatctctgt
      181 ctccacaccc ccatgtattt ctttctcagt agcctctctt ttgtagatgc ctcttactct
      241 tcttccgtca ctcccaagat gctggtgaac ctcatggctg agaataaggc catttctttt
      301 catggatgtg ctgcccagtt ctacttcttt ggctccttcc tggggactga gtgcttcctg
      361 ttggccatga tggcatatga ccgctatgca gccatttgga accccctgct ctacccagtt
      421 ctcgtgtctg ggagaatttg ctttttgcta atagctacct ccttcttagc aggttgtgga
      481 aatgcagcca tacatacagg gatgactttt aggttgtcct tttgtggttc taataggatc
      541 aaccatttct actgtgacac cccgccactg ctcaaactct cttgctctga tacccacttc
      601 aatggcattg tgatcatggc attctcaagt tttattgtca tcagctgtgt tatgattgtc
      661 ctcatttcct acctgtgtat cttcattgcc gtcttgaaga tgccttcgtt agagggcagg
      721 cacaaagcct tctccacctg tgcctcttac ctcatggctg tcaccatatt ctttggaaca
      781 atcctcttca tgtacttgcg ccctacatct agctactcaa tggagcaaga caaggttgtc
      841 tctgtctttt atacagtaat aatccctgtg ctaaatcccc tcatctatag tttaaaaaat
      901 aaggatgtaa aaaaggccct aaagaagatc ttatggaaac acatcttgta g
//
LOCUS       NM_001002926            3893 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens RNA polymerase I subunit F (POLR1F), mRNA.
ACCESSION   NM_001002926
VERSION     NM_001002926.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3893)
  AUTHORS   He M, Xu M, Zhang B, Liang J, Chen P, Lee JY, Johnson TA, Li H, Yang
            X, Dai J, Liang L, Gui L, Qi Q, Huang J, Li Y, Adair LS, Aung T, Cai
            Q, Cheng CY, Cho MC, Cho YS, Chu M, Cui B, Gao YT, Go MJ, Gu D, Gu
            W, Guo H, Hao Y, Hong J, Hu Z, Hu Y, Huang J, Hwang JY, Ikram MK,
            Jin G, Kang DH, Khor CC, Kim BJ, Kim HT, Kubo M, Lee J, Lee J, Lee
            NR, Li R, Li J, Liu J, Longe J, Lu W, Lu X, Miao X, Okada Y, Ong RT,
            Qiu G, Seielstad M, Sim X, Song H, Takeuchi F, Tanaka T, Taylor PR,
            Wang L, Wang W, Wang Y, Wu C, Wu Y, Xiang YB, Yamamoto K, Yang H,
            Liao M, Yokota M, Young T, Zhang X, Kato N, Wang QK, Zheng W, Hu FB,
            Lin D, Shen H, Teo YY, Mo Z, Wong TY, Lin X, Mohlke KL, Ning G,
            Tsunoda T, Han BG, Shu XO, Tai ES, Wu T and Qi L.
  TITLE     Meta-analysis of genome-wide association studies of adult height in
            East Asians identifies 17 novel loci
  JOURNAL   Hum Mol Genet 24 (6), 1791-1800 (2015)
   PUBMED   25429064
REFERENCE   2  (bases 1 to 3893)
  AUTHORS   Foroud T, Lai D, Koller D, Van't Hof F, Kurki MI, Anderson CS, Brown
            RD Jr, Connolly ES, Eriksson JG, Flaherty M, Fornage M, von Und Zu
            Fraunberg M, Gaal EI, Laakso A, Hernesniemi J, Huston J,
            Jaaskelainen JE, Kiemeney LA, Kivisaari R, Kleindorfer D, Ko N,
            Lehto H, Mackey J, Meissner I, Moomaw CJ, Mosley TH, Moskala M,
            Niemela M, Palotie A, Pera J, Rinkel G, Ripke S, Rouleau G, Ruigrok
            Y, Sauerbeck L, Slowik A, Vermeulen SH, Woo D, Worrall BB and
            Broderick J.
  CONSRTM   Familial Intracranial Aneurysm Study Investigators
  TITLE     Genome-wide association study of intracranial aneurysm identifies a
            new association on chromosome 7
  JOURNAL   Stroke 45 (11), 3194-3199 (2014)
   PUBMED   25256182
REFERENCE   3  (bases 1 to 3893)
  AUTHORS   Goodfellow SJ and Zomerdijk JC.
  TITLE     Basic mechanisms in RNA polymerase I transcription of the ribosomal
            RNA genes
  JOURNAL   Subcell Biochem 61, 211-236 (2013)
   PUBMED   23150253
  REMARK    Review article
REFERENCE   4  (bases 1 to 3893)
  AUTHORS   Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN,
            Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S,
            Ferreira T, Wood AR, Weyant RJ, Segre AV, Speliotes EK, Wheeler E,
            Soranzo N, Park JH, Yang J, Gudbjartsson D, Heard-Costa NL, Randall
            JC, Qi L, Vernon Smith A, Magi R, Pastinen T, Liang L, Heid IM, Luan
            J, Thorleifsson G, Winkler TW, Goddard ME, Sin Lo K, Palmer C,
            Workalemahu T, Aulchenko YS, Johansson A, Zillikens MC, Feitosa MF,
            Esko T, Johnson T, Ketkar S, Kraft P, Mangino M, Prokopenko I,
            Absher D, Albrecht E, Ernst F, Glazer NL, Hayward C, Hottenga JJ,
            Jacobs KB, Knowles JW, Kutalik Z, Monda KL, Polasek O, Preuss M,
            Rayner NW, Robertson NR, Steinthorsdottir V, Tyrer JP, Voight BF,
            Wiklund F, Xu J, Zhao JH, Nyholt DR, Pellikka N, Perola M, Perry JR,
            Surakka I, Tammesoo ML, Altmaier EL, Amin N, Aspelund T, Bhangale T,
            Boucher G, Chasman DI, Chen C, Coin L, Cooper MN, Dixon AL, Gibson
            Q, Grundberg E, Hao K, Juhani Junttila M, Kaplan LM, Kettunen J,
            Konig IR, Kwan T, Lawrence RW, Levinson DF, Lorentzon M, McKnight B,
            Morris AP, Muller M, Suh Ngwa J, Purcell S, Rafelt S, Salem RM,
            Salvi E, Sanna S, Shi J, Sovio U, Thompson JR, Turchin MC, Vandenput
            L, Verlaan DJ, Vitart V, White CC, Ziegler A, Almgren P, Balmforth
            AJ, Campbell H, Citterio L, De Grandi A, Dominiczak A, Duan J,
            Elliott P, Elosua R, Eriksson JG, Freimer NB, Geus EJ, Glorioso N,
            Haiqing S, Hartikainen AL, Havulinna AS, Hicks AA, Hui J, Igl W,
            Illig T, Jula A, Kajantie E, Kilpelainen TO, Koiranen M, Kolcic I,
            Koskinen S, Kovacs P, Laitinen J, Liu J, Lokki ML, Marusic A,
            Maschio A, Meitinger T, Mulas A, Pare G, Parker AN, Peden JF,
            Petersmann A, Pichler I, Pietilainen KH, Pouta A, Ridderstrale M,
            Rotter JI, Sambrook JG, Sanders AR, Schmidt CO, Sinisalo J, Smit JH,
            Stringham HM, Bragi Walters G, Widen E, Wild SH, Willemsen G, Zagato
            L, Zgaga L, Zitting P, Alavere H, Farrall M, McArdle WL, Nelis M,
            Peters MJ, Ripatti S, van Meurs JB, Aben KK, Ardlie KG, Beckmann JS,
            Beilby JP, Bergman RN, Bergmann S, Collins FS, Cusi D, den Heijer M,
            Eiriksdottir G, Gejman PV, Hall AS, Hamsten A, Huikuri HV, Iribarren
            C, Kahonen M, Kaprio J, Kathiresan S, Kiemeney L, Kocher T, Launer
            LJ, Lehtimaki T, Melander O, Mosley TH Jr, Musk AW, Nieminen MS,
            O'Donnell CJ, Ohlsson C, Oostra B, Palmer LJ, Raitakari O, Ridker
            PM, Rioux JD, Rissanen A, Rivolta C, Schunkert H, Shuldiner AR,
            Siscovick DS, Stumvoll M, Tonjes A, Tuomilehto J, van Ommen GJ,
            Viikari J, Heath AC, Martin NG, Montgomery GW, Province MA, Kayser
            M, Arnold AM, Atwood LD, Boerwinkle E, Chanock SJ, Deloukas P,
            Gieger C, Gronberg H, Hall P, Hattersley AT, Hengstenberg C, Hoffman
            W, Lathrop GM, Salomaa V, Schreiber S, Uda M, Waterworth D, Wright
            AF, Assimes TL, Barroso I, Hofman A, Mohlke KL, Boomsma DI,
            Caulfield MJ, Cupples LA, Erdmann J, Fox CS, Gudnason V, Gyllensten
            U, Harris TB, Hayes RB, Jarvelin MR, Mooser V, Munroe PB, Ouwehand
            WH, Penninx BW, Pramstaller PP, Quertermous T, Rudan I, Samani NJ,
            Spector TD, Volzke H, Watkins H, Wilson JF, Groop LC, Haritunians T,
            Hu FB, Kaplan RC, Metspalu A, North KE, Schlessinger D, Wareham NJ,
            Hunter DJ, O'Connell JR, Strachan DP, Wichmann HE, Borecki IB, van
            Duijn CM, Schadt EE, Thorsteinsdottir U, Peltonen L, Uitterlinden
            AG, Visscher PM, Chatterjee N, Loos RJ, Boehnke M, McCarthy MI,
            Ingelsson E, Lindgren CM, Abecasis GR, Stefansson K, Frayling TM and
            Hirschhorn JN.
  TITLE     Hundreds of variants clustered in genomic loci and biological
            pathways affect human height
  JOURNAL   Nature 467 (7317), 832-838 (2010)
   PUBMED   20881960
REFERENCE   5  (bases 1 to 3893)
  AUTHORS   Yuan X, Zhao J, Zentgraf H, Hoffmann-Rohrer U and Grummt I.
  TITLE     Multiple interactions between RNA polymerase I, TIF-IA and TAF(I)
            subunits regulate preinitiation complex assembly at the ribosomal
            gene promoter
  JOURNAL   EMBO Rep 3 (11), 1082-1087 (2002)
   PUBMED   12393749
REFERENCE   6  (bases 1 to 3893)
  AUTHORS   Kosan C and Kunz J.
  TITLE     Identification and characterisation of the gene TWIST NEIGHBOR
            (TWISTNB) located in the microdeletion syndrome 7p21 region
  JOURNAL   Cytogenet Genome Res 97 (3-4), 167-170 (2002)
   PUBMED   12438708
  REMARK    GeneRIF: describe the localisation and characterisation of the TWIST
            NEIGHBOR (TWISTNB) gene
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.167769.1,
            SRR1660805.17726.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2159607
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000222567.6/ ENSP00000222567.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC056267.1, AK090846.1 and AC004940.1.
            On Nov 22, 2018 this sequence version replaced NM_001002926.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3893
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.1"
     gene            1..3893
                     /gene="POLR1F"
                     /gene_synonym="A43; RPA43; TWISTNB"
                     /note="RNA polymerase I subunit F"
                     /db_xref="GeneID:221830"
                     /db_xref="HGNC:HGNC:18027"
                     /db_xref="MIM:608312"
     CDS             22..1038
                     /gene="POLR1F"
                     /gene_synonym="A43; RPA43; TWISTNB"
                     /note="twist neighbor protein; DNA-directed RNA polymerase
                     I subunit F"
                     /codon_start=1
                     /product="DNA-directed RNA polymerase I subunit RPA43"
                     /protein_id="NP_001002926.1"
                     /db_xref="CCDS:CCDS34606.1"
                     /db_xref="GeneID:221830"
                     /db_xref="HGNC:HGNC:18027"
                     /db_xref="MIM:608312"
                     /translation="MAAGCSEAPRPAAASDGSLVGQAGVLPCLELPTYAAACALVNSRY
                     SCLVAGPHQRHIALSPRYLNRKRTGIREQLDAELLRYSESLLGVPIAYDNIKVVGELGD
                     IYDDQGHIHLNIEADFVIFCPEPGQKLMGIVNKVSSSHIGCLVHGCFNASIPKPEQLSA
                     EQWQTMEINMGDELEFEVFRLDSDAAGVFCIRGKLNITSLQFKRSEVSEEVTENGTEEA
                     AKKPKKKKKKKDPETYEVDSGTTKLADDADDTPMEESALQNTNNANGIWEEEPKKKKKK
                     KKHQEVQDQDPVFQGSDSSGYQSDHKKKKKKRKHSEEAEFTPPLKCSPKRKGKSNFL"
     misc_feature    646..1035
                     /gene="POLR1F"
                     /gene_synonym="A43; RPA43; TWISTNB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3B726.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    745..747
                     /gene="POLR1F"
                     /gene_synonym="A43; RPA43; TWISTNB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q3B726.1); phosphorylation site"
     misc_feature    931..933
                     /gene="POLR1F"
                     /gene_synonym="A43; RPA43; TWISTNB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q3B726.1); phosphorylation site"
     misc_feature    967..969
                     /gene="POLR1F"
                     /gene_synonym="A43; RPA43; TWISTNB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q3B726.1);
                     phosphorylation site"
     misc_feature    985..987
                     /gene="POLR1F"
                     /gene_synonym="A43; RPA43; TWISTNB"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q3B726.1); phosphorylation site"
     misc_feature    1003..1005
                     /gene="POLR1F"
                     /gene_synonym="A43; RPA43; TWISTNB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q3B726.1);
                     phosphorylation site"
     regulatory      2603..2608
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLR1F"
                     /gene_synonym="A43; RPA43; TWISTNB"
                     /note="hexamer: AATAAA"
     polyA_site      2622
                     /gene="POLR1F"
                     /gene_synonym="A43; RPA43; TWISTNB"
     regulatory      3868..3873
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLR1F"
                     /gene_synonym="A43; RPA43; TWISTNB"
                     /note="hexamer: AATAAA"
     polyA_site      3893
                     /gene="POLR1F"
                     /gene_synonym="A43; RPA43; TWISTNB"
                     /note="major polyA site"
ORIGIN
        1 gtgggaacct tgacaagcag catggctgca ggttgctcag aggcgccgcg gccagcggcg
       61 gcttctgatg ggtctctggt agggcaggct ggcgtcctgc cttgcctaga gttgccgact
      121 tatgccgctg cttgtgcgct ggtgaacagt cgctactcat gcctggtggc cgggccgcac
      181 caaaggcaca tcgcgctgtc gccccgctac cttaacagga aacgcaccgg cattcgagaa
      241 cagcttgatg cggagctcct tcgctattct gagagccttt taggtgtccc tattgcatat
      301 gataacatca aagttgtggg agagcttgga gatatttatg atgatcaagg acacattcat
      361 cttaacattg aagccgattt tgttattttc tgccctgaac cagggcagaa gcttatgggt
      421 atagttaata aagtgtcttc tagccacatt ggctgtttag tacatgggtg tttcaatgcc
      481 tccattccta aacctgagca gttgtcagct gagcagtggc aaaccatgga gataaacatg
      541 ggtgatgaac tagaatttga agtatttcgt ttagactcag atgctgctgg agtattctgc
      601 attcggggaa aactaaatat cacaagttta caattcaagc gctctgaagt ttctgaagaa
      661 gttacagaaa atggcactga ggaagctgct aaaaaaccta aaaagaagaa aaagaagaaa
      721 gacccagaga catatgaagt ggacagtggt accacaaagc tagcagatga tgcagatgac
      781 actccaatgg aagagtcagc cctgcagaat actaataatg cgaatggcat ctgggaggag
      841 gagccaaaga aaaagaagaa gaagaaaaag caccaggaag ttcaggacca ggaccctgtt
      901 ttccaaggca gtgactccag tggttaccaa agtgaccata aaaagaaaaa aaagaaaaga
      961 aaacacagtg aagaggccga atttacccca cctttgaaat gctcaccaaa aagaaaaggg
     1021 aaaagtaatt ttctttagtg tattttaaac acgattcagt ttttaaaaga tcgatctaca
     1081 tacaatagat gaataaatgt tttcagtgat atgaaaaggt taagtatgcc agtagtttac
     1141 aaaacagaaa atacttaact aggagtagga ggctttatat gctaaaaatg ataaaactga
     1201 ctgtaaatta atttggggaa agccagtatt gttaaaatac cattttatac aaaataaaaa
     1261 gctgctctca ctgtcagctc tcatattctt ccaggttttg cactctacat aaaattattt
     1321 ctacaatgtc aagactagcc aaaggacttt ataatacaat attatattac taaagaatga
     1381 gttaagtttg agattttgat gatttgattt tgtgtgtgtt taataggctt caccttatta
     1441 catgctattt tattttgctt ttttaaaaac tcaggacatt aactaatttt aggttttcct
     1501 ttatcatggc tttctacagt atttctattg tttaacataa aatagtttgc caaagaagtt
     1561 tctgaagtct tcacagctct taaaagccag gccagtactg actgtgtggt ggtaaatgct
     1621 attcattatt ttcttttctt tcttccaagt gcatgtgtgt ccttgtcttc ttaagtctga
     1681 gaggttgctg gaaaggactg ttttcttgta cttgttcatt tgtgcctcag ccattctagt
     1741 tttgttgtgt gttggaggac agtctaatga agacaggata aatgtgattc tgactagtgg
     1801 gaaatttcag attacttttt aatgattgga atgggctata agatattgtg ctgaagagaa
     1861 aacagttgtt ctgttcactg ctttcattga gaaaatgtgg aatgtctctt gactaattga
     1921 caaagtgtaa tgaaatgaca agctggttga agctggtaat caatgcatgg ccatatttat
     1981 tcattttcca cacacttgac catctacttt gtataacaca ttctgctaag gcccagggat
     2041 acaatggcaa acaagataga tgtagttcct tcccttgtgg catgtcataa gagaaacaga
     2101 tgtgcatata cacacaataa ataagaaaat taataattgt attaagtggt atgaaaaaaa
     2161 gggggaggat tgttcactca ctgttacctg tgttagtatc tgcaaatgca tgaatggttg
     2221 aactcccatg tcagcatttt tgttgccatt tatttagtac cagacatagt gctggtctca
     2281 cagcttaata tttggtaatg aataaattct gctagtggta tatgttgatc tgaacttaca
     2341 atgatgggat atagaattgg cagagtggca gatgttcaca attgtctaca agtagatgtg
     2401 ctagacaatg gaaggatgca ggccaacctc tttgattaca attgagattc atgtgactat
     2461 tgagccctgg aaatgtagct tgtccaaatt gagatgtgct gtcagtataa aatacatacc
     2521 agattttaaa gatgtaccaa aaaatgtaaa ctatctcaat ttttatattg gtgaaatcaa
     2581 tatgtcttgg tatagtggct taaataaaac aattttagcc tttctcagtt tatttttctg
     2641 caaaaagatt aaaaattgta catgaagctc atgttaactt tcttttggtc agtgctattt
     2701 taaaggaagt atgagttgaa aaaaaattga aataaactat atcatattac taggacttaa
     2761 tatagtggca tacccaggaa atgcttagta agtgttccct tcacatttta aaatttgagt
     2821 atacaatcat gtttgacaat atagaaattt aatttttagt gaaacaattc taaacccctt
     2881 ttccatagac acaagaaaga tggcaaattt atgctattcc tggaaaaata cattgtggct
     2941 tagcaaataa gcaagttccc acgttacttt tgttttgctt caagtaatac ttctgccagt
     3001 tgtgttttat gaattaaaca gggaacggca tgctgaactt gaaactagat ttgttcctgc
     3061 ttttttcaca atgtgagtag ttttgaaaag tcagatctgg ccatttgtct ttcctagaat
     3121 agcataactt tgttcattgt tttttttgtt tgtctttctg acacagaaag actgatgatg
     3181 gtgtccacta tgtattcttc aaaacatttg gcacatgctg cactaaccta gtctatcttt
     3241 tctatcttgg aatttgctca tacaaaccct atagcctaga ctagatccct taccctctct
     3301 ccagttccta tcattcaccc atttcactgt gcaagacacc tcactagtca ccagtgatac
     3361 agaaatgact tttaagcagt ttctgctctt aagggcttac cgttttgtct ataagataca
     3421 caagtataaa tgacaagtac aaataacaat gaatgtttaa tgctttacgt ttagtgttta
     3481 agcttgttgt tggaagagca gcattttgac ccttggagaa gaaaaactag ctgtggcatt
     3541 ccaggtggag aacctgacag aggactaaga agttatctaa tgtaaaagac ctcaggcacc
     3601 accttcgcat aaactttttc cagacaaggc taaatgtgca tgcttcataa ccataattct
     3661 tatttttctt taataaatat ttttctactt gtaacactgt gcattatttc aaactgttta
     3721 cctgtttgta aagcttgtct cttaatcaaa tttgtcttga ccaaataagt ttcctgaggg
     3781 ctggaattat gccttaacta tatctatagt atttaacagt gaatcctttg tataatgaaa
     3841 gcatcaacag ataattttaa attgataaat aaaaagcaca gtttcaaatg gta
//
LOCUS       NM_001003               1174 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein lateral stalk subunit P1 (RPLP1),
            transcript variant 1, mRNA.
ACCESSION   NM_001003
VERSION     NM_001003.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1174)
  AUTHORS   Peterson R, Minchella P, Cui W, Graham A and Nothnick WB.
  TITLE     RPLP1 Is Up-Regulated in Human Adenomyosis and Endometrial
            Adenocarcinoma Epithelial Cells and Is Essential for Cell Survival
            and Migration In Vitro
  JOURNAL   Int J Mol Sci 24 (3), 2690 (2023)
   PUBMED   36769010
  REMARK    GeneRIF: RPLP1 Is Up-Regulated in Human Adenomyosis and Endometrial
            Adenocarcinoma Epithelial Cells and Is Essential for Cell Survival
            and Migration In Vitro. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1174)
  AUTHORS   Horbowicz-Drozdzal P, Kamel K, Kmiecik S, Borkiewicz L, Tumer NE,
            Shaw PC, Tchorzewski M and Grela P.
  TITLE     Phosphorylation of the conserved C-terminal domain of ribosomal
            P-proteins impairs the mode of interaction with plant toxins
  JOURNAL   FEBS Lett 595 (17), 2221-2236 (2021)
   PUBMED   34328639
  REMARK    GeneRIF: Phosphorylation of the conserved C-terminal domain of
            ribosomal P-proteins impairs the mode of interaction with plant
            toxins.
REFERENCE   3  (bases 1 to 1174)
  AUTHORS   Campos RK, Wijeratne HRS, Shah P, Garcia-Blanco MA and Bradrick SS.
  TITLE     Ribosomal stalk proteins RPLP1 and RPLP2 promote biogenesis of
            flaviviral and cellular multi-pass transmembrane proteins
  JOURNAL   Nucleic Acids Res 48 (17), 9872-9885 (2020)
   PUBMED   32890404
  REMARK    GeneRIF: Ribosomal stalk proteins RPLP1 and RPLP2 promote biogenesis
            of flaviviral and cellular multi-pass transmembrane proteins.
REFERENCE   4  (bases 1 to 1174)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1174)
  AUTHORS   Xia L, Yue Y, Li M, Zhang YN, Zhao L, Lu W, Wang X and Xie X.
  TITLE     CNN3 acts as a potential oncogene in cervical cancer by affecting
            RPLP1 mRNA expression
  JOURNAL   Sci Rep 10 (1), 2427 (2020)
   PUBMED   32051425
  REMARK    GeneRIF: CNN3 acts as a potential oncogene in cervical cancer by
            affecting RPLP1 mRNA expression. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1174)
  AUTHORS   Chan SH, Hung FS, Chan DS and Shaw PC.
  TITLE     Trichosanthin interacts with acidic ribosomal proteins P0 and P1 and
            mitotic checkpoint protein MAD2B
  JOURNAL   Eur J Biochem 268 (7), 2107-2112 (2001)
   PUBMED   11277934
REFERENCE   7  (bases 1 to 1174)
  AUTHORS   Uechi T, Tanaka T and Kenmochi N.
  TITLE     A complete map of the human ribosomal protein genes: assignment of
            80 genes to the cytogenetic map and implications for human disorders
  JOURNAL   Genomics 72 (3), 223-230 (2001)
   PUBMED   11401437
REFERENCE   8  (bases 1 to 1174)
  AUTHORS   Tchorzewski M, Boldyreff B, Issinger OG and Grankowski N.
  TITLE     Analysis of the protein-protein interactions between the human
            acidic ribosomal P-proteins: evaluation by the two hybrid system
  JOURNAL   Int J Biochem Cell Biol 32 (7), 737-746 (2000)
   PUBMED   10856704
REFERENCE   9  (bases 1 to 1174)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   10  (bases 1 to 1174)
  AUTHORS   Rich BE and Steitz JA.
  TITLE     Human acidic ribosomal phosphoproteins P0, P1, and P2: analysis of
            cDNA clones, in vitro synthesis, and assembly
  JOURNAL   Mol Cell Biol 7 (11), 4065-4074 (1987)
   PUBMED   3323886
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BP367167.1, SRR5189652.227177.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000260379.11/ ENSP00000346037.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AC027237.8.
            On Nov 25, 2018 this sequence version replaced NM_001003.2.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            phosphoprotein that is a component of the 60S subunit. The protein,
            which is a functional equivalent of the E. coli L7/L12 ribosomal
            protein, belongs to the L12P family of ribosomal proteins. It plays
            an important role in the elongation step of protein synthesis.
            Unlike most ribosomal proteins, which are basic, the encoded
            protein is acidic. Its C-terminal end is nearly identical to the
            C-terminal ends of the ribosomal phosphoproteins P0 and P2. The P1
            protein can interact with P0 and P2 to form a pentameric complex
            consisting of P1 and P2 dimers, and a P0 monomer. The protein is
            located in the cytoplasm. Two alternatively spliced transcript
            variants that encode different proteins have been observed. As is
            typical for genes encoding ribosomal proteins, there are multiple
            processed pseudogenes of this gene dispersed through the genome.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This predominant variant (1) is the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1174
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q23"
     gene            1..1174
                     /gene="RPLP1"
                     /gene_synonym="LP1; P1; RPP1"
                     /note="ribosomal protein lateral stalk subunit P1"
                     /db_xref="GeneID:6176"
                     /db_xref="HGNC:HGNC:10372"
                     /db_xref="MIM:180520"
     misc_feature    3
                     /gene="RPLP1"
                     /gene_synonym="LP1; P1; RPP1"
                     /note="predominant transcription initiation site"
     misc_feature    48..50
                     /gene="RPLP1"
                     /gene_synonym="LP1; P1; RPP1"
                     /note="upstream in-frame stop codon"
     CDS             132..476
                     /gene="RPLP1"
                     /gene_synonym="LP1; P1; RPP1"
                     /note="isoform 1 is encoded by transcript variant 1; 60S
                     acidic ribosomal protein P1; acidic ribosomal
                     phosphoprotein P1; ribosomal protein, large, P1; large
                     ribosomal subunit protein P1"
                     /codon_start=1
                     /product="large ribosomal subunit protein P1 isoform 1"
                     /protein_id="NP_000994.1"
                     /db_xref="CCDS:CCDS10233.1"
                     /db_xref="GeneID:6176"
                     /db_xref="HGNC:HGNC:10372"
                     /db_xref="MIM:180520"
                     /translation="MASVSELACIYSALILHDDEVTVTEDKINALIKAAGVNVEPFWPG
                     LFAKALANVNIGSLICNVGAGGPAPAAGAAPAGGPAPSTAAAPAEEKKVEAKKEESEES
                     DDDMGFGLFD"
     misc_feature    135..137
                     /gene="RPLP1"
                     /gene_synonym="LP1; P1; RPP1"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:25944712;
                     propagated from UniProtKB/Swiss-Prot (P05386.1);
                     acetylation site"
     misc_feature    336..473
                     /gene="RPLP1"
                     /gene_synonym="LP1; P1; RPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P05386.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    432..434
                     /gene="RPLP1"
                     /gene_synonym="LP1; P1; RPP1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14997482,
                     ECO:0007744|PubMed:16807684; propagated from
                     UniProtKB/Swiss-Prot (P05386.1); phosphorylation site"
     regulatory      497..502
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPLP1"
                     /gene_synonym="LP1; P1; RPP1"
                     /note="hexamer: AATAAA"
     polyA_site      515
                     /gene="RPLP1"
                     /gene_synonym="LP1; P1; RPP1"
                     /note="major polyA site"
     polyA_site      545
                     /gene="RPLP1"
                     /gene_synonym="LP1; P1; RPP1"
     regulatory      1139..1144
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPLP1"
                     /gene_synonym="LP1; P1; RPP1"
                     /note="hexamer: AATAAA"
     polyA_site      1174
                     /gene="RPLP1"
                     /gene_synonym="LP1; P1; RPP1"
ORIGIN
        1 cccctttcct cagctgccgc caaggtgctc ggtccttccg aggaagctaa ggctgcgttg
       61 gggtgaggcc ctcacttcat ccggcgacta gcaccgcgtc cggcagcgcc agccctacac
      121 tcgcccgcgc catggcctct gtctccgagc tcgcctgcat ctactcggcc ctcattctgc
      181 acgacgatga ggtgacagtc acggaggata agatcaatgc cctcattaaa gcagccggtg
      241 taaatgttga gcctttttgg cctggcttgt ttgcaaaggc cctggccaac gtcaacattg
      301 ggagcctcat ctgcaatgta ggggccggtg gacctgctcc agcagctggt gctgcaccag
      361 caggaggtcc tgccccctcc actgctgctg ctccagctga ggagaagaaa gtggaagcaa
      421 agaaagaaga atccgaggag tctgatgatg acatgggctt tggtcttttt gactaaacct
      481 cttttataac atgttcaata aaaagctgaa ctttactgct gttggtcttg tccatagttt
      541 tggaatgtgc tctgcaaaaa tggtctgttt tgtaatgttg gctttcagcc tattctgcca
      601 tgacacaggc tggattttcc ctgccaccat tgccggatgt gagatttaga caatcctgat
      661 gctaacaaga aggcacctca tggtacagtg ttgaaaactg cactggggtg gcaggaggaa
      721 ggatcagagc agatgctttg tccaggttac ctgtgtaaac ttgatgatta taaggtgtgt
      781 cccctacact gggggtggag ggtaatacag accagcttta gaaagcctcc tgggtattta
      841 ccctatacaa ccctgcctaa gaacgaactt tgacgtatgc tgaatgttga ctgctacatc
      901 ccaaggttgt aaaaaaacaa gacttagcta tgtaatgtct caccaaatgt ttgggagttt
      961 tatggtaaca ctgaaggagt gcagaaagtt tacttaatag tttattaagg tctccagtta
     1021 cacaaagtgg aaaaaaaaaa agattcaaac ctgtgttcca aaaactaaga gctttttttg
     1081 tttgccaatt aataatacca tgaatggaat tttcaacttt tcaggcttgg atttatataa
     1141 taaaccgtgg gtattgtgtg ttcagagcag ctaa
//
LOCUS       NM_001003443            4438 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 56 subfamily A member 3
            (OR56A3), mRNA.
ACCESSION   NM_001003443
VERSION     NM_001003443.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4438)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641160.1/ ENSP00000493059.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC025016.8.
            On Aug 5, 2020 this sequence version replaced NM_001003443.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..4438
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..4438
                     /gene="OR56A3"
                     /gene_synonym="OR56A2P; OR56A3P; OR56A6"
                     /note="olfactory receptor family 56 subfamily A member 3"
                     /db_xref="GeneID:390083"
                     /db_xref="HGNC:HGNC:14786"
     misc_feature    420..422
                     /gene="OR56A3"
                     /gene_synonym="OR56A2P; OR56A3P; OR56A6"
                     /note="upstream in-frame stop codon"
     CDS             438..1385
                     /gene="OR56A3"
                     /gene_synonym="OR56A2P; OR56A3P; OR56A6"
                     /note="olfactory receptor, family 56, subfamily A, member 3
                     pseudogene; olfactory receptor, family 56, subfamily A,
                     member 6; olfactory receptor, family 56, subfamily A,
                     member 2 pseudogene; olfactory receptor OR11-51; olfactory
                     receptor 56A6"
                     /codon_start=1
                     /product="olfactory receptor 56A3"
                     /protein_id="NP_001003443.2"
                     /db_xref="CCDS:CCDS41614.1"
                     /db_xref="GeneID:390083"
                     /db_xref="HGNC:HGNC:14786"
                     /translation="MTTHRNDTLSTEASDFLLNCFVRSPSWQHWLSLPLSLLFLLAVGA
                     NTTLLMTIWLEASLHQPLYYLLSLLSLLDIVLCLTVIPKVLTIFWFDLRPISFPACFLQ
                     MYIMNCFLAMESCTFMVMAYDRYVAICHPLRYPSIITDHFVVKAAMFILTRNVLMTLPI
                     PILSAQLRYCGRNVIENCICANMSVSRLSCDDVTINHLYQFAGGWTLLGSDLILIFLSY
                     TFILRAVLRLKAEGAVAKALSTCGSHFMLILFFSTILLVFVLTHVAKKKVSPDVPVLLN
                     VLHHVIPAALNPIIYGVRTQEIKQGMQRLLKKGC"
     misc_feature    453..455
                     /gene="OR56A3"
                     /gene_synonym="OR56A2P; OR56A3P; OR56A6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH54.2); glycosylation site"
     misc_feature    525..587
                     /gene="OR56A3"
                     /gene_synonym="OR56A2P; OR56A3P; OR56A6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH54.2);
                     transmembrane region"
     misc_feature    612..674
                     /gene="OR56A3"
                     /gene_synonym="OR56A2P; OR56A3P; OR56A6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH54.2);
                     transmembrane region"
     misc_feature    747..809
                     /gene="OR56A3"
                     /gene_synonym="OR56A2P; OR56A3P; OR56A6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH54.2);
                     transmembrane region"
     misc_feature    867..929
                     /gene="OR56A3"
                     /gene_synonym="OR56A2P; OR56A3P; OR56A6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH54.2);
                     transmembrane region"
     misc_feature    990..992
                     /gene="OR56A3"
                     /gene_synonym="OR56A2P; OR56A3P; OR56A6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH54.2); glycosylation site"
     misc_feature    1038..1100
                     /gene="OR56A3"
                     /gene_synonym="OR56A2P; OR56A3P; OR56A6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH54.2);
                     transmembrane region"
     misc_feature    1161..1223
                     /gene="OR56A3"
                     /gene_synonym="OR56A2P; OR56A3P; OR56A6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH54.2);
                     transmembrane region"
     misc_feature    1269..1331
                     /gene="OR56A3"
                     /gene_synonym="OR56A2P; OR56A3P; OR56A6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH54.2);
                     transmembrane region"
ORIGIN
        1 agattagcca gaagactaga gagatctctg tcttcagtcc ctatctgtgc tcttttccat
       61 tcctgcgtca atactgctga agtagtctga gaaggaaata aataaagact gcaccctgtc
      121 tcaggagaaa agaattggga gaatatctaa atctcttcta tatatgaggt gaagggccat
      181 gcctggcaga ctacatgggg aatcagagga tcaagaggag tgaagagagg atccctggag
      241 gaatgcccgt cctccctcca ctgacagcag ccacagttac taacagggtc tttctgatga
      301 ggagaatctg acaggaccca gttgagcaag gactggaact gcttttgggg aataggaaag
      361 acaactgaaa acaaaaagcc tacctgaacc tcttccaaaa aatcactgaa agaaagcagt
      421 aaaatatatg ggaaaatatg acaacacacc gaaatgacac cctctccact gaagcttcag
      481 acttcctctt gaattgtttt gtcagatccc ccagctggca gcactggctg tccctgcccc
      541 tcagcctcct tttcctcttg gccgtagggg ccaacaccac cctcctgatg accatctggc
      601 tggaggcctc tctgcaccag cccctgtact acctgctcag cctcctctcc ctgctggaca
      661 tcgtgctctg cctcactgtc atccccaagg tcctgaccat cttctggttt gacctcaggc
      721 ccatcagctt ccctgcctgc ttcctccaga tgtacatcat gaattgtttc ctagccatgg
      781 agtcttgcac attcatggtc atggcctatg atcgttatgt agccatctgc cacccactga
      841 gatatccatc aatcatcact gatcactttg tagtcaaggc tgccatgttt attttgacca
      901 gaaatgtgct tatgactctg cccatcccca tcctttcagc acaactccgt tattgtggaa
      961 gaaatgtcat tgagaactgc atctgtgcca atatgtctgt ttccagactc tcctgcgatg
     1021 atgtcaccat caatcacctt taccaatttg ctggaggctg gactctgcta ggatctgacc
     1081 tcatccttat cttcctctcc tacaccttca ttctgcgagc tgtgctgaga ctcaaggcag
     1141 agggtgccgt ggcaaaggcc ctaagcacat gtggctccca cttcatgctc atcctcttct
     1201 tcagcaccat ccttctggtt tttgtcctca cacatgtggc taagaagaaa gtctcccctg
     1261 atgtgccagt cttgctcaat gttctccacc atgtcattcc tgcagccctt aaccccatca
     1321 tttacggggt gagaacccaa gaaattaagc agggaatgca gaggttgttg aagaaagggt
     1381 gctaacaagg accactggat ctctgaatat ctaaaataag ataatttatt aatcacttaa
     1441 tgagtgagtg ggctgaaatt catatctgtg acttataacc tcaaactggg tacactagat
     1501 attgtgtgtg cttttcaaaa acatcggttt taatttaagt ctatcttcct tttcaccctt
     1561 ttctcagaaa tattcttggc cctctctcgt tttattccat gcttataatc atattttgtc
     1621 caaaacactg acattcctta aagcagattt taaagtgaaa aatgtatgtt tctgaacaca
     1681 caactcaata tgtcatgaat tttgtatcat taaaaataca actgcggtta ttttgttgtg
     1741 tctgttatgt gtaatgtcct tttattctta ttttcagaaa agggaataca ttggagaaaa
     1801 aaacacagta gttgaaattt cagtcctcag tggtggaaag ttgctactgg tctgtaagta
     1861 ggtctttttc tctcaccctt caaccacatc attgcctttc tctagttctc tttctcccct
     1921 cacctcctct ctctccctct ccttctcttt ctctggaaga caagtaaatt tttgtaatgt
     1981 gcattgcaag agggcaaggg ttttgccttg attcctcatg agtaacaatt atcaatgagt
     2041 tttactggat atatgagatt cttgaatcct cttccccaat gtgtctgtgc ttagaacatt
     2101 tatctttcag atccaatata tcacaggttt tgatatgcaa acaaatcttt attaatgagt
     2161 caaaagattg ctggtattag agcatacaat ctagcaataa tattgacacc taaaatactt
     2221 ttcctgaaca ttattttctc attaattgga cagcttctaa gcacacatgg tgtcctgtga
     2281 attatgttag ctattaagaa acaaaaataa aaagaatatt gttgttgatt tgaggacctc
     2341 aaagtttggg taggaaaaat acaaatatgc actccagaac acattcttct aaactgtaga
     2401 gcagtgagga atgggataaa agatatgtat gggcagtaag atacttggtc ctgtaaggaa
     2461 acattagata aagagaaggt ctgggcagta ggccttgcac agccacacac ccacatgcac
     2521 acacatacat acccacagca taaaagttgt gtcccgcctg ggaagaaatc aaataagaga
     2581 attcactgtg tttcccatta ttcatccaat acctgataat agtgagcgat ttgttttaga
     2641 atattcttct aaatacaaga ttctgtgctt cagtaacaac ttacaagtat gtgttacttt
     2701 gttttgacca tacaaggaaa atttctcaag tatcaaatac caagactgtc ccaaatgtcc
     2761 gaatgtttta aatttaactg aaagcatctg agattaagcc ctgtcctact caagcagaat
     2821 tccgcagagc tctctccgtt catttctctt ctccatcttg caaaaaaaat gataaattag
     2881 tatttaattc ctggatatcc tggaattgaa acctactgat tgaaaaataa gcatgtacca
     2941 catataagaa gcaatagtta aaagcatata atcaataatt taattagaaa tttctcaaaa
     3001 gtgaaaagcc atctgttaag atccgagtag atacaccttt ttctttatta ctcaaagaag
     3061 aaggactctc taaaatctca ttctctcata catttcaaca taagaaaaat ggcttgactt
     3121 gaaatgtgaa taaccgtata ccatggaaga atcttacaat tataaagata taacatgctt
     3181 gtaaggtaaa tttaagccac cacctcttag gaaatattaa aaatctgaaa gttttaacaa
     3241 tatgctatat taacatatac ttatcaaaac accaaaactt tgaggactag ttattttcaa
     3301 gatcacatcg tttgtatgac aaatccagat gtctacagta agctgttaga agataacctt
     3361 gggtgccagg aaaaggacat attgagggat ttagagtaca tacctccctg agattaagaa
     3421 aattttccat aagtcttgtc ttcccaaaga acatggtaaa aagttcatat tttaaaagta
     3481 tttgcctgaa aaatctgttt tgcttcactt atatgtaatt tttagacatt tataaacaat
     3541 gtcaaaacaa tatcggcata tatttatttg aaaaacaagg tgaacaagtt aactatggtt
     3601 ttatctcacc aaaataggta atattagtga ggatttcctc tagaactgtg ctgtgcaata
     3661 tgaaccacat acttaatttt aaacttttta gtacacatgt tgaaaaagta gaaacagaca
     3721 aaattagttc taataagata ttttatttag tccaacatat ccaaaatatt atcatttcaa
     3781 cacataacaa atacaagata atcattaatg tgatattgca cattcctttt ctgtactaag
     3841 tctttgaaac accctgagta ttttacactt aacatacatt ttaattcaga ctacccagat
     3901 tccaagcatt caatagccac gtgaggctag tgactatggt attaatcagt actactctag
     3961 aaattttgct ttgaaagtca gatatggata gaaaataaag ttaattagaa aatatgtatt
     4021 cttcttgaaa tacatcttat aatacagtta tatttatatt attttgtttt ggctataatt
     4081 tttctttttt atatgttttg ccaaggaagt cagggtttta gaggagagta aagttttttt
     4141 tgttaatgct gcaataacat gagtgctaaa tcttggaaac caaggtgaga agatttattt
     4201 ttaaaagaag ttttagttac tgggttttta agacatatgg tcctgaaatc ccacagtgac
     4261 agacttgaag aagagttaaa cttaagatcc taaggaagaa tgtaaatggg tatttactca
     4321 taacaagtaa ggaatattag cattagagta atcgacagac attaatacgt taaaggttta
     4381 tcagaaggta aatgataaac attatttgta attcattaaa tttttcttta catcattt
//
LOCUS       NM_001003665            7757 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens stum, mechanosensory transduction mediator homolog
            (STUM), transcript variant 1, mRNA.
ACCESSION   NM_001003665
VERSION     NM_001003665.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7757)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 7757)
  AUTHORS   Desai BS, Chadha A and Cook B.
  TITLE     The stum gene is essential for mechanical sensing in proprioceptive
            neurons
  JOURNAL   Science 343 (6176), 1256-1259 (2014)
   PUBMED   24626929
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AL137507.1, DY655815.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000366788.8/ ENSP00000355752.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL359704.9, AL137507.1, AL357122.13, AL365444.11 and AL134612.1.
            On Nov 23, 2018 this sequence version replaced NM_001003665.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7757
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.12"
     gene            1..7757
                     /gene="STUM"
                     /gene_synonym="C1orf95"
                     /note="stum, mechanosensory transduction mediator homolog"
                     /db_xref="GeneID:375057"
                     /db_xref="HGNC:HGNC:30491"
     CDS             142..567
                     /gene="STUM"
                     /gene_synonym="C1orf95"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein stum homolog; stumble homolog"
                     /codon_start=1
                     /product="protein stum homolog isoform 1"
                     /protein_id="NP_001003665.1"
                     /db_xref="CCDS:CCDS31044.1"
                     /db_xref="GeneID:375057"
                     /db_xref="HGNC:HGNC:30491"
                     /translation="MEPSHKDAETAAAAAAVAAADPRGASSSSGVVVQVREKKGPLRAA
                     IPYMPFPVAVICLFLNTFVPGLGTFVSAFTVLCGARTDLPDRHVCCVFWLNIAAALIQI
                     LTAIVMVGWIMSIFWGMDMVILAISQGYKEQGIPQQL"
     misc_feature    217..219
                     /gene="STUM"
                     /gene_synonym="C1orf95"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q0VBF8; propagated from
                     UniProtKB/Swiss-Prot (Q69YW2.1); phosphorylation site"
     misc_feature    292..354
                     /gene="STUM"
                     /gene_synonym="C1orf95"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YW2.1);
                     transmembrane region"
     misc_feature    400..462
                     /gene="STUM"
                     /gene_synonym="C1orf95"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YW2.1);
                     transmembrane region"
     regulatory      7611..7616
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STUM"
                     /gene_synonym="C1orf95"
                     /note="hexamer: AATATA"
     polyA_site      7632
                     /gene="STUM"
                     /gene_synonym="C1orf95"
     regulatory      7720..7725
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STUM"
                     /gene_synonym="C1orf95"
                     /note="hexamer: AATAAA"
     polyA_site      7757
                     /gene="STUM"
                     /gene_synonym="C1orf95"
                     /note="major polyA site"
ORIGIN
        1 gcgagccgcg cggcgcacgg agcacggcgg ccgcctgagc tcggcgcgga gcccggagcc
       61 cgcagccgac agtctcctgc tcccgtacgc tgggcgccag ctccggccgt gctgcccggc
      121 tgcctgagag cgcgcccggc catggagccc tcgcacaaag acgccgagac ggcggcggcg
      181 gcggcggcgg tggcggcggc ggacccccgg ggggcgtcct cgtccagcgg ggtggtggtg
      241 caggtccgcg agaagaaggg ccccctgcgc gccgccatcc cctacatgcc cttccccgtg
      301 gccgtcatct gcctcttcct caacactttc gtgccgggac tggggacatt cgtctcggcc
      361 ttcactgtgc tgtgcggggc ccgcaccgac ctcccggaca ggcatgtgtg ctgcgtcttc
      421 tggctgaaca ttgcagcagc cctcatccaa atcctcactg ccatcgtcat ggtgggctgg
      481 atcatgagca tcttctgggg catggacatg gtcatccttg ccatttccca aggctacaag
      541 gagcagggca tcccacagca gctgtgagcc cacgggagcc gctggggaga tccagggggg
      601 ccctgtgagg gctgcaccag gcagctttgg gcacaaggac ctttacatgt tcttttctgc
      661 cattttctgg actgggggtg gaaagggggt atttttaaaa atattattta ttttgaaaac
      721 gcatctgctt ttctcagcag gttgtgaggg ctgccagccc ctcctgctct ggaaagcact
      781 gtgggcgcag gcaccagagc atcagagagt ggggtggaga tgagaacgcc cacagagagg
      841 ctgggatgct ccggcaggct ccaactggcc ttgctgtacc cactgcccac cgcaaaggca
      901 cgccacgtct gctgggccgg gccacaccgg gccctgtctg ggtgagcagg ggctcaccaa
      961 ggggacagga ctgtggtaga cccgtcctgt gggaccccac ctgcctcaaa atctggtgcc
     1021 ccgagtgttt actgtgtggt ctcctggggg cagcaccagg gtgtgggtga ggatggccag
     1081 gctccaccct agcgtggaaa ggcccactgt gcccacagct ggcctgaggc ctcggggaga
     1141 agaccagtcc cacaggcgtc tcctgggcct gcctccctga ccgcaccccc cgcctcctcg
     1201 cagctgaaat ctgagggctg ggtgtgtcgt gacctgtgtt ttcctgggaa ggagaggagt
     1261 agctccttcc ctggggtgaa actgccagat gtttatacac aaagttatta gactgaagca
     1321 ggagtgggca gactagcagg ctttcaccca atacttaaca gcatttctgg cccacattcc
     1381 tttttctgaa gtcattgggg ccagatgtgt ctccgaattg agaaatttta gatttgagaa
     1441 agacaatgcg atccatttat cgtacacttt ctaacttccc ggcagagtgt ggaacatctc
     1501 gcctaccatc aggcacgtga atatttctgc agagaaacat gtgactagtc ccattaactg
     1561 ggagctatac aaactgtaaa tagcctcacc tcagttcagt ctaattttgc cactaagtaa
     1621 cttagggaaa aacttaccat ttgagagctt ttagggtttc agaattgcaa gaacaattgt
     1681 atggggttgt ggaccttgat ctgaaaatcc tgcttgcaaa cagatgtgtt agagggtgaa
     1741 attgtcggca ttacacaagg actccttcag ttgccaaaag accatgggcc tctttaagga
     1801 gcccctctgt aagtgattgg gacagggcta gatccctaat gggggctagg ggtggggaga
     1861 atctagcaga agttgtccag gatactgtgg atcaagtatc aatctgaaat taagagaaat
     1921 tagatactaa gaggatggac atttacatgt ctgtttcctt tcctttcatt ttcattctaa
     1981 cataggaaat gctaacagat ggggctggcc caaagtcaag cttctgactc cacttgacac
     2041 agtgccattg ggcatgtccc tctctgaagg gcttgtttgt ctatcagaga ctgtcagaac
     2101 tccatgaggg caggagaagg gattttgcag gatgaaagtg cttgggaagt agtggccacc
     2161 gttctggggg tttcagccca cctaccccat ccaccgggct ttctaatcac agtcctgcct
     2221 gagaagcggg ccctgctgcc caccccttat catggatccc ttagctactg tccgtcttcc
     2281 attgctgcct ggggctgggc tgccgttttt gaacacctgg cagtgtcttt gtcgcgtcct
     2341 gtcctctctt cttacagacc ccaacccagg cctttgcctt cttctctcct gtttggaagc
     2401 ctctgtatct tcaaggtgtg ggaacagatt tggttttctc taaaaagcta gaaccttctg
     2461 ctgtgtgcag caggcatcct ccaggctggt gctggctgct ctcgaggaag ctgcgtcaga
     2521 gtggagctgc ccctctactc agataaaata gcttcagctg caggaagccg ccccctccca
     2581 tgcccaccag cccacagccc ttcaccccac acagccccca gagtttgccc gacaccccct
     2641 gagtgatgac aggtctcagg agggggccgc ccccacaaat gggaggcgga agcttatttt
     2701 ccccgcttgg gctgggggcg gctgctgagg gggtgaagaa gagatagcaa tttatgtcgc
     2761 atgtttagtg acacaatcca gatgcaggtg ggactttctt gagtggcagg tgtcaccctg
     2821 ggtcccgtgt gggatggttt aatacagggg tttgtgtgtt tgtgtgtgtg gagggccact
     2881 gcgcccccag atcctcctct cccccgaggg ctgcgtctct aaacctggga aaacatcagc
     2941 ctcaggagga ggcccctttc cgggtaactg atgtgtggga gaagccaaga ggcccctgcc
     3001 tgtctcctga atgaggctgt gagggttgcc atgtgggcgg gaccggttca aaatagcgcc
     3061 cccgcccctc taaattagac cgtggtctca gcatgatcat cttcagtaga taagggacag
     3121 tggctgattt actccaaata gttccagctg gccactcaga ccagggccag agttaacttc
     3181 tcaaacacca gccagctgaa aattagggtt ctcgtgcagg caagtgcatg gttgacacac
     3241 agccctttgg tgacaaagct gggctttgcc tgcatagtgc agacaaggct gttggttcag
     3301 aggctgcagg gcacattcca ggttggggcc ttttgtcggt cggaattcaa taggacattc
     3361 cctggctgtg ggtgtttagg gcaggaatta caggcttgca gagaaagtca gaggcaatga
     3421 gatgctccca gtaccaaact gtgacactgg gatcagggtg gtcattccct tgggtcagag
     3481 tgggacccta gagccagagt gagctgtggg tggcctgggt gtgtcctgtg gacggcggag
     3541 actgttgatt tggatgttga gctctgagtc agtttcagaa ccaaggatct caggctgaga
     3601 aggccaggtc cccatgggag cggcaggagt ctgatggctc tgctgccaga gcctacccca
     3661 gcctgccacg ccgctgacct tcccatggta aggaaggggc aggcagcatg gttcccaccc
     3721 tcagctgccc cagacccaca catccagccc caagagcagc ctcacccagg cacagtgcag
     3781 ggcattttag ctcctgggag gggagatgcc tttgtgagtt tcagatgtca gaggagaagc
     3841 tccgagagag taagtcatgt gcccccaaac actcagctcc taagtggcag gacaggcaag
     3901 tggccaggtt gggccgcccc cacagcctgt gccgtccaca cactcactac agcactccca
     3961 gaagaaggag cagaatcgca tgcagcccag agcaggtcct gtggaggggt cctcacccct
     4021 caggagtaat agggtgatta tgtcacatgt ttagtgatac aatcccacct gtgtctggat
     4081 tgtgtcacta aacatgcaac ataaattacc atctcttctc catcccctca gcagccgccc
     4141 ccaccccaag ctgggaaaat aagcttctcc ctcccatatg tgggggcggc cccctcctga
     4201 gacctgtcat cacttagggg gagttgggca aaacctccta ggaaggtcct ggacgcctcc
     4261 accctgcccc acaaggctcc gtactcccac ctgcctgggc agccctcaca cccatgctcc
     4321 ctcctttagg caggcccaga aaggtgcccc ttcctgaggg tgttggggga tggcggcaga
     4381 gagacagctg gtattaggag cttccccatc ctaatgtgca ggaccaagtt gcccgctctg
     4441 ccagccaggg gctccagcca tgctggcaca ggcatctcag aggtgtgaga tgaactccgc
     4501 ctcatgcagg atgcccaggg ctcggaagca gtaaggagga tgctacagaa aggaactgca
     4561 gaaagaaaaa aagccacatg gttaactttt cccctggagg gcaaaggggt ccggctctca
     4621 aaaagaaaag ccaggcacag atcccaacac caagtgtaag gcagcacaaa gtgggtctga
     4681 aaccccagga ccgggtcaaa ggccttccga aggcccgagg ttcttgagga ggggaagctg
     4741 atagggccct ggtctttctg caccagcgtg gctctttaaa atacaaaaca cccacaaagc
     4801 caaaaaccct gaaacatgtt ctttagctaa ccccttccct gcccagatgc ctgcaattct
     4861 gagaattcac ttcagttttg ccagatccaa cccctaggct tgagggtgga gagccaggcc
     4921 tcctcagggt cccttctagg ctcccaggcc caccttaggc tttaattgca ttggctgttt
     4981 cttatggtgt tagtgaattt tgcaaagaaa gccctgagca ttgcataaat gcttgggggc
     5041 gtgtcattta aatggaagtt ctccaatagt ggctgaaggc agagtttact gttatccctc
     5101 cctcttgctg gctttgctgg agggctttta tcagagagat tggaggtggg agagcacttt
     5161 taaagcacac cccaccccct gcacccgagc ggcacctaag cttcccagag accatgacct
     5221 tgtatgtggc tggaggcctc aggcttaggg agcagcctga agcctttgct gtcaaccctc
     5281 ccaggaaaga agccgggcct caggctgagg aaaaacagag tttcctctcc agagggctca
     5341 atgagcagcc aggtagtggc ctcgggcagt cctcaccagg gggacacctc cctgctttgc
     5401 attaactcat cagcaagctc atcgagagct aacgtgggcc cagcagtcct gtgcttggaa
     5461 atgatgccgt cacctccaca ctcctgctgt tccagcctct gcaggtgaag ctgcaaggtg
     5521 agcagaggca ggcgtgggga cacactcttc aaggactgca ctgccccttc tccctcctga
     5581 gagctctgtg cactgggttt ggggatgagg cgccagcctg gtcaggggag gtgactgtgg
     5641 tccttctgac cagcttggat ctttaaaata atcacaaaaa agctcagcct gagcaggtgg
     5701 gtgcaaggct caggggcctg tgtttttcat caatcagttt tcttcctgca agattcttag
     5761 agctggatgt tcacgggatc atggggcatg gaggtggtca cgctcagaca gtcatgcacc
     5821 accctcaatc ccaggccctg cagagatagg aagaatccca accagaggga ttcttcccca
     5881 aacgttccct tgtggcccaa gagtgagttc cggcctgagt gctgttatga ctgccggcgt
     5941 ctctccgact gcctctcgcc tcagtttaac catctatagg ttaggaacaa agaagggctt
     6001 aggcagccat cgtttcccca tttctgtcag agccaagggc ttggaggccc agccccatcc
     6061 gggcaagggc tgtccgctcc tgcccaggcc tcacctcctc gctgcagctg gcaagattct
     6121 ttctagcaga acagaaacac tggcccccaa ttccactctc ccctcctgat gctaccgcag
     6181 agggcagaaa ggtgccctgt agcgtccacc atgtgtgtgt cctgagtttc cagtgcaagt
     6241 catctggatt tgcatttagc tagggaaact cggccctcaa accctctccc tctctgcctg
     6301 aatttgccaa aatgccaacc atccgggcag gtgtggatgc cacagtccat ccccattgca
     6361 tttcaccccc acatggacag aggcacacac tcgcacacat tcccagcacc tttgactgct
     6421 gggggatgca ggccagggtc tgcctggagc ctcagggttg ggacttatct ccaaaggagc
     6481 ccacaccccc tcttccagga tgggcactgg ctggcagcac ttttttccct catcacatcc
     6541 ctgacccctg cccagcccac atgcacatgc tgtttcctgt ctccagggcc ctagcctgtg
     6601 gatctcttcc tcccatgcac tcctagggtg aatgggctca gcaccaaacc tggctgtgcc
     6661 cattccccac aaccccagct tggcctcctg tgggaaggag aaggcagacc tgcccagagg
     6721 agaggggcag tgttcccacc cacctgctcc agcacaggaa ccagggagga aagaagggag
     6781 agggaggttc cattcaccgt tttctgggtt agcgcttgat tggatgtttc aagcaaggga
     6841 caaggtgatg gtggctgtaa taggctcctc gtgggcaccg tcaccccaga aggcctgggc
     6901 acccatgaga acctgtggcc agcccttttc attggctgag ttccctgctg ttgtgcgtgg
     6961 tgccattttt tttttaaaca acatatataa aaacaaaaca actggttctg tgtgtatcaa
     7021 cttaatttgc atatgaatga gtgttgtgtt gtgatttgca gtgttttgac accgtgattg
     7081 gctttgtttg ggtctctctt ctttctgtga aattaactgc tgtgcgtttt cactgttctt
     7141 agagaagacc ctgagctcct ggggttttct tgtctcactt ctaccctgac ctgctgggag
     7201 cccaccccac cccagtccag ccatgagggt atttccagcc tattccaatg actgaaaccc
     7261 ttcttggaag aaaacgtcta atgtcgggga cgtagggacg cttccagact tgccctggcc
     7321 ggaaccctgc agcctggggc cccagcccgc ctgcagctca gctttcccca acaccctcag
     7381 gacccagccc cagccccggc agaccttccc tgggagctgc ttaggtggtc tccacagcgc
     7441 cctctagggg ccaagcaggg ttccagattc tccagccttc tgccagcttt aaaacccttc
     7501 actcaagcag cattactgta catgcaatga aaaatactat atatgacagt caaaacctgt
     7561 gtacatattt ccatgtacat atttatacat acacacacct tcctattata aatatataaa
     7621 gcatgacatc tctttggcat tccaagtttg tgttttttta aatccttgga aatacggctt
     7681 tggaaacctt tttcttcctt tccctctttt ctatgttgta ataaacattc atgtgacctt
     7741 tctggtagtt tctcaaa
//
LOCUS       NM_001003681            4095 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens HMG-box containing 4 (HMGXB4), transcript variant 1,
            mRNA.
ACCESSION   NM_001003681
VERSION     NM_001003681.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4095)
  AUTHORS   Frankel BM, Cachia D, Patel SJ and Das A.
  TITLE     Analysis of the P53N a Novel Protein Encoded on Chromosome
            22q12.1-12.3 in Glioblastomas and Ependymomas Specimens
  JOURNAL   J Mol Neurosci 71 (8), 1714-1722 (2021)
   PUBMED   33595778
  REMARK    GeneRIF: Analysis of the P(53N) a Novel Protein Encoded on
            Chromosome 22q12.1-12.3 in Glioblastomas and Ependymomas Specimens.
REFERENCE   2  (bases 1 to 4095)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 4095)
  AUTHORS   Salati S, Zini R, Nuzzo S, Guglielmelli P, Pennucci V, Prudente Z,
            Ruberti S, Rontauroli S, Norfo R, Bianchi E, Bogani C, Rotunno G,
            Fanelli T, Mannarelli C, Rosti V, Salmoiraghi S, Pietra D, Ferrari
            S, Barosi G, Rambaldi A, Cazzola M, Bicciato S, Tagliafico E,
            Vannucchi AM and Manfredini R.
  CONSRTM   AGIMM (AIRC Gruppo Italiano Malattie Mieloproliferative)
            investigators
  TITLE     Integrative analysis of copy number and gene expression data
            suggests novel pathogenetic mechanisms in primary myelofibrosis
  JOURNAL   Int J Cancer 138 (7), 1657-1669 (2016)
   PUBMED   26547506
  REMARK    GeneRIF: These results highlight a previously un-reported role of
            HMGXB4 in the hematopoietic system and transcriptional imbalances of
            HMGXB4 could contribute to the aberrant expansion of the
            megakaryocytic lineage in primary myelofibrosis patients
REFERENCE   4  (bases 1 to 4095)
  AUTHORS   Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanche H, Schreiber
            S and Nebel A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat Res 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 4095)
  AUTHORS   Vermeulen M, Eberl HC, Matarese F, Marks H, Denissov S, Butter F,
            Lee KK, Olsen JV, Hyman AA, Stunnenberg HG and Mann M.
  TITLE     Quantitative interaction proteomics and genome-wide profiling of
            epigenetic histone marks and their readers
  JOURNAL   Cell 142 (6), 967-980 (2010)
   PUBMED   20850016
REFERENCE   6  (bases 1 to 4095)
  AUTHORS   Potash JB, Buervenich S, Cox NJ, Zandi PP, Akula N, Steele J, Rathe
            JA, Avramopoulos D, Detera-Wadleigh SD, Gershon ES, DePaulo JR Jr,
            Feinberg AP and McMahon FJ.
  CONSRTM   NIMH Genetics Initiative Bipolar Disorder Consortium
  TITLE     Gene-based SNP mapping of a psychotic bipolar affective disorder
            linkage region on 22q12.3: association with HMG2L1 and TOM1
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 147B (1), 59-67 (2008)
   PUBMED   17671966
  REMARK    GeneRIF: high-mobility group protein 2-like 1 and SNP mapping of a
            psychotic bipolar affective disorder linkage region on 22q12.3
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 4095)
  AUTHORS   Nery FC, Rui E, Kuniyoshi TM and Kobarg J.
  TITLE     Evidence for the interaction of the regulatory protein Ki-1/57 with
            p53 and its interacting proteins
  JOURNAL   Biochem Biophys Res Commun 341 (3), 847-855 (2006)
   PUBMED   16455055
REFERENCE   8  (bases 1 to 4095)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   9  (bases 1 to 4095)
  AUTHORS   Collins JE, Goward ME, Cole CG, Smink LJ, Huckle EJ, Knowles S, Bye
            JM, Beare DM and Dunham I.
  TITLE     Reevaluating human gene annotation: a second-generation analysis of
            chromosome 22
  JOURNAL   Genome Res 13 (1), 27-36 (2003)
   PUBMED   12529303
REFERENCE   10  (bases 1 to 4095)
  AUTHORS   Seroussi E, Kedra D, Kost-Alimova M, Sandberg-Nordqvist AC, Fransson
            I, Jacobs JF, Fu Y, Pan HQ, Roe BA, Imreh S and Dumanski JP.
  TITLE     TOM1 genes map to human chromosome 22q13.1 and mouse chromosome 8C1
            and encode proteins similar to the endosomal proteins HGS and STAM
  JOURNAL   Genomics 57 (3), 380-388 (1999)
   PUBMED   10329004
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.238083.1,
            SRR1803614.81990.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000216106.6/ ENSP00000216106.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DW452042.1, BC052624.1,
            BC040447.1 and AI471703.1.
            On Nov 22, 2018 this sequence version replaced NM_001003681.2.
            Summary: High mobility group (HMG) proteins are nonhistone
            chromosomal proteins. See HMG2 (MIM 163906) for additional
            information on HMG proteins.[supplied by OMIM, Nov 2010].
            Transcript Variant: This variant (1) encodes the longer protein
            (isoform 1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4095
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.3"
     gene            1..4095
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /note="HMG-box containing 4"
                     /db_xref="GeneID:10042"
                     /db_xref="HGNC:HGNC:5003"
                     /db_xref="MIM:604702"
     misc_feature    77..79
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /note="upstream in-frame stop codon"
     CDS             134..1939
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /note="isoform 1 is encoded by transcript variant 1; HMG
                     domain-containing protein 4; HMG box-containing protein 4;
                     high mobility group protein 2-like 1; HMG box domain
                     containing 4"
                     /codon_start=1
                     /product="HMG domain-containing protein 4 isoform 1"
                     /protein_id="NP_001003681.1"
                     /db_xref="CCDS:CCDS33641.1"
                     /db_xref="GeneID:10042"
                     /db_xref="HGNC:HGNC:5003"
                     /db_xref="MIM:604702"
                     /translation="MAYDDSVKKEDCFDGDHTFEDIGLAAGRSQREKKRSYKDFLREEE
                     EIAAQVRNSSKKKLKDSELYFLGTDTHKKKRKHSSDDYYYGDISSLESSQKKKKKSSPQ
                     STDTAMDLLKAITSPLAAGSKPSKKTGEKSSGSSSHSESKKEHHRKKVSGSSGELPLED
                     GGSHKSKKMKPLYVNTETLTLREPDGLKMKLILSPKEKGSSSVDEESFQYPSQQATVKK
                     SSKKSARDEQGALLLGHELQSFLKTARKKHKSSSDAHSSPGPEGCGSDASQFAESHSAN
                     LDLSGLEPILVESDSSSGGELEAGELVIDDSYREIKKKKKSKKSKKKKDKEKHKEKRHS
                     KSKRSLGLSAVPVGEVTVTSGPPPSIPYAGAAAPPLPLPGLHTDGHSEKKKKKEEKDKE
                     RERGEKPKKKNMSAYQVFCKEYRVTIVADHPGIDFGELSKKLAEVWKQLPEKDKLIWKQ
                     KAQYLQHKQNKAEATTVKRKASSSEGSMKVKASSVGVLSPQKKSPPTTMLLPASPAKAP
                     ETEPIDVAAHLQLLGESLSLIGHRLQETEGMVAVSGSLSVLLDSIICALGPLACLTTQL
                     PELNGCPKQVLSNTLDNIAYIMPGL"
     misc_feature    284..1363
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UGU5.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    437..439
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UGU5.2); phosphorylation site"
     misc_feature    722..724
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9UGU5.2); phosphorylation site"
     misc_feature    1550..1675
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UGU5.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1622..1624
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UGU5.2); phosphorylation site"
     misc_feature    1637..1639
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9UGU5.2);
                     phosphorylation site"
     misc_feature    1667..1669
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9UGU5.2);
                     phosphorylation site"
     regulatory      4068..4073
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /note="hexamer: ATTAAA"
     polyA_site      4095
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /note="major polyA site"
ORIGIN
        1 ctctccttct ccaagatggc ggcgatcggc ggcgttgagg cgggatccgg gcgagccgag
       61 tgaagacctg gtcctgtaga cgggaaggag cctggacaca gtgacacatt ctcaaaggcc
      121 ctgcaggacc accatggctt atgatgactc cgtgaagaaa gaagattgtt ttgatggtga
      181 tcataccttt gaggacatag gacttgcagc tggccgaagc caacgagaga aaaaacgttc
      241 ttacaaagat tttttaaggg aagaggaaga aattgctgct caggtcagga attcttccaa
      301 gaagaagttg aaggatagtg aactttactt cttggggacg gacacacaca agaagaagag
      361 gaagcactcc tctgatgatt actactatgg agatatttcg tctttggaat cgtcacagaa
      421 gaaaaagaaa aagtccagcc cacagtctac tgatacagct atggacctgt tgaaagctat
      481 cacttcccca ctggcagcag gctccaagcc ctccaaaaag actggggaga aatcctctgg
      541 ctcttcaagc cattcggaga gtaaaaagga gcaccacagg aagaaagtca gtggaagcag
      601 tggggaacta cccctagagg atggtggctc ccacaaatcg aaaaaaatga aacctctcta
      661 tgtgaacaca gagacactga cccttcggga gcctgatggt ttaaaaatga aacttattct
      721 gtcaccaaag gagaagggaa gcagctctgt tgatgaggag tcttttcaat atccctccca
      781 acaagcgact gtgaaaaaat cctcaaagaa atcagctcgg gatgagcagg gtgctttact
      841 cctaggacat gagttacaga gctttctgaa aacagcccgg aaaaagcaca agtcatcctc
      901 agacgcacat tcatctcctg gccctgaagg ctgtgggtct gacgcctccc agttcgcaga
      961 gtcccacagt gctaaccttg atctttcagg gcttgaacct attctggtag aatcagactc
     1021 atcctctggt ggggaactag aggctgggga gttagtgata gatgattctt accgagaaat
     1081 caagaagaaa aagaagtcaa agaagagcaa aaagaagaaa gacaaggaga agcataaaga
     1141 gaagcgacac tccaagtcca agagaagttt aggactttct gccgtgccag tgggagaggt
     1201 cacagtgaca tctggccctc ctcccagcat cccatacgct ggagcagcag cacctcccct
     1261 gccacttcct ggcctccaca cagatgggca tagtgaaaaa aaaaagaaaa aagaagagaa
     1321 ggacaaagag agagagagag gagaaaagcc aaaaaagaag aacatgtcgg cctaccaggt
     1381 gttctgtaaa gagtatcgcg tgaccattgt ggctgaccat ccaggtatag attttgggga
     1441 acttagtaaa aaactggctg aggtgtggaa gcaattacca gaaaaagaca aactgatttg
     1501 gaagcaaaaa gctcagtatc tgcagcacaa acagaacaaa gcagaagcca caactgtgaa
     1561 aaggaaagca tccagctcag aaggttccat gaaagtcaaa gcctcttctg taggagtact
     1621 gtcaccccag aagaagtccc cacccaccac catgctgtta ccagcctcac cagccaaagc
     1681 ccctgagaca gagcccattg atgttgctgc tcatcttcag ctgttgggag agtccctaag
     1741 cctcattgga caccgtctgc aggaaactga gggtatggtg gctgtgtctg gcagtttgtc
     1801 agtgcttctg gattccatta tctgtgccct tggccccttg gcatgtctca ccacacaact
     1861 acctgaattg aatggctgtc ccaaacaggt cttgtcaaac acattagaca acattgctta
     1921 catcatgccg ggactgtgac agcaaagaat cctgggacag aaaccttatc ctacaccatt
     1981 gctggtttgt gtatatatga ctgttgcaga ttccttcagt ggcctctggc tgtaggtttt
     2041 aaatttttat atctatacat acatatatac atatatatat aatgtacaat atatacatag
     2101 actgtaacta ctttgctttt aataatttta tgaaatggca aaggtttagc caagaggaaa
     2161 ttttggcatg aatacaggct tgggattctt ttttctcctg tggtggataa atctgcctta
     2221 aaaatcaatg taacttgggg gctgggggct tgttctgggt gccaagcgca tctctttatg
     2281 gacagctaaa atgtgattat tttccaagct cagttggacc tccagaccca tcactgacca
     2341 tttgccttac ctgtcttagt ctgaaatgta ataggaaaga taacgggaag atgccagttg
     2401 actgaaaatt caaagccttt caatttgaag tgacctaggt gggaggtgat aaaatttgtt
     2461 ccctttatag ttatggaagt ggcttaggtg aattgagtag agggttcatt ccaattccta
     2521 ctgtataggt gtctgtgtct caaaatttat tgtaatcatt ggtaccattg gtggcctcaa
     2581 cagaggccaa ggagttctgt gagccctggc agcaaaaaac accttggggg gtgaagctgt
     2641 caatgccacc agttggacct ccatacattc tgagctaacc cagaatcttt agtcggcaga
     2701 attaagtgct ggtgtctttc actggcagca tgaagttagc caccaagtcc tcacaagccg
     2761 tgctgcttag ttgctcggtg gttatggata aactttgccc agcatgattt ttgggttcat
     2821 cttatcagtt cccctggtgg gcagatacac agtgttctgc attccacatg taagtgaatt
     2881 gcaaaaacaa aacaaaactc actctcttgt aggtttattt atgtgtgtgt gaatgtgtat
     2941 tttaattatg tgtatttaac tctttaaaat ctcttagatt ttaatttatc ctgtaaattt
     3001 ctgtatatat aatttaataa cagaagcctc caccagcaac agcatgtgga agatacagat
     3061 ttgtcatttc tcccttccgc cctcccttct ttccttcctt ccttccctgt ttccttccct
     3121 ctttccttcc ttcctcctgg tctgttccaa aaactctgaa tcatctacat tttaaggtat
     3181 tttacctcaa aaatgaatca ttgtgttagg attctaattc tttataaaga acttcatggg
     3241 cttcaataat gtctagaaag taaaataaag aggaatgtta ccatccccag ctgcccttat
     3301 ttccagagaa ccagacgttt gtttcccagt tggaaagaag acagttgagc acttcaggat
     3361 ggtttttaaa tttggtatga gattctctgc caacaccaag ctctgagtta actgtgcttt
     3421 cttctcctgg ccctgacaga gcactacagc atcaaagtaa atctttgggg acagtgtagc
     3481 ccatctgcat cctatttaat ttcttccctt ctccccacca gtgttgtcac agggctatgt
     3541 tgcttaaagg tagtctggct gctgaatccc tttctcagct cagagcagtt ttaagattta
     3601 attgggaata cagagaaaca ggattgtttg agaaccaaaa tcaagaggaa cagaaatctt
     3661 aacttgattt catgtgttag aacattgtac catgcctctt ctgtatctgt ggaagtttcc
     3721 tgtttgacac agggtatcta ggaggggcgg ggaagacatg gatagtatag gaagacatta
     3781 atcctagcat tgtcatttat atacattaat gaaatcctga tgaggacctg ctttttgttt
     3841 gttttccttt gaaacccagc cctattgtat ttgtatttaa aatttgtaca catttgtata
     3901 ataatctgta ccttgtggta tttggtacta ttagaggaaa aactttggat tcagaccttc
     3961 ttgcagtttt tatatcattg ttttattttg ttttttaaat aaattctagt ggtttgatcc
     4021 aaatcccatt acagttgtat aaagaaataa aattttgtac ttatattatt aaaaatcaca
     4081 tttttaatat ttgta
//
LOCUS       NM_001003682            2468 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens transmembrane protein 200B (TMEM200B), transcript
            variant 2, mRNA.
ACCESSION   NM_001003682
VERSION     NM_001003682.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2468)
  AUTHORS   Pickard BS, Malloy MP, Clark L, Lehellard S, Ewald HL, Mors O,
            Porteous DJ, Blackwood DH and Muir WJ.
  TITLE     Candidate psychiatric illness genes identified in patients with
            pericentric inversions of chromosome 18
  JOURNAL   Psychiatr Genet 15 (1), 37-44 (2005)
   PUBMED   15722956
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC082989.1, SRR14038197.2690691.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000521452.2/ ENSP00000428459.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC082989.1, BC064375.1, BC110336.1 and AI367819.1.
            On Nov 22, 2018 this sequence version replaced NM_001003682.3.
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2468
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.3"
     gene            1..2468
                     /gene="TMEM200B"
                     /gene_synonym="TTMB"
                     /note="transmembrane protein 200B"
                     /db_xref="GeneID:399474"
                     /db_xref="HGNC:HGNC:33785"
     CDS             69..992
                     /gene="TMEM200B"
                     /gene_synonym="TTMB"
                     /note="two transmembrane B; transmembrane protein TTMA; two
                     transmembrane domain-containing family member B"
                     /codon_start=1
                     /product="transmembrane protein 200B"
                     /protein_id="NP_001003682.1"
                     /db_xref="CCDS:CCDS30658.1"
                     /db_xref="GeneID:399474"
                     /db_xref="HGNC:HGNC:33785"
                     /translation="MTAGSPEECGEVRRSPEGRVSRLGRRLGRRRRPRSPPEPLRVRAR
                     LRLRSPSGAFAALGALVVLVGMGIAVAGYWPHRAGAPGSRAANASSPQMSELRREGRGG
                     GRAHGPHERLRLLGPVIMGVGLFVFICANTLLYENRDLETRRLRQGVLRAQALRPPDGP
                     GWDCALLPSPGPRSPRAVGCAEPEIWDPSPRRGTSPVPSVRSLRSEPANPRLGLPALLN
                     SYPLKGPGLPPPWGPRTQTGHVIITVQPSGSCIEHSKSLDLGLGELLLGAPAARDCAHR
                     SWPRLDRLSLGGYAKLGGGGDLGARV"
     misc_feature    69..182
                     /gene="TMEM200B"
                     /gene_synonym="TTMB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YZ2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    225..287
                     /gene="TMEM200B"
                     /gene_synonym="TTMB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YZ2.1);
                     transmembrane region"
     misc_feature    309..401
                     /gene="TMEM200B"
                     /gene_synonym="TTMB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YZ2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    330..332
                     /gene="TMEM200B"
                     /gene_synonym="TTMB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q69YZ2.1); glycosylation site"
     misc_feature    414..476
                     /gene="TMEM200B"
                     /gene_synonym="TTMB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YZ2.1);
                     transmembrane region"
     misc_feature    606..701
                     /gene="TMEM200B"
                     /gene_synonym="TTMB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YZ2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2448..2453
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM200B"
                     /gene_synonym="TTMB"
                     /note="hexamer: AATAAA"
     polyA_site      2468
                     /gene="TMEM200B"
                     /gene_synonym="TTMB"
                     /note="major polyA site"
ORIGIN
        1 ctccgcgcgc ggactgggac ccggacccgc gcggcgctgc ggcgccagag cgcccagacg
       61 acggcgagat gacggccggg agccccgaag aatgcgggga ggtgcggagg agccccgagg
      121 gccgcgtctc tcgcttgggc cgccgcctgg gccgccgccg gcgcccgcgc tccccgcccg
      181 agcctctgcg ggtgcgggcg cggctgcggc tgcgctcgcc gtcgggggcg ttcgcggcgc
      241 tgggggcgct cgtggtactg gtgggtatgg gcattgcagt ggccggctac tggccgcacc
      301 gggccggggc cccagggtcc cgggccgcca atgccagctc gccccagatg agcgagctgc
      361 gacgcgaggg tcgcggcggg ggccgggctc acggcccgca cgagcggctg cggctcctcg
      421 ggccggtgat catgggcgtc ggcctgttcg tgttcatctg cgccaacaca ctgctgtatg
      481 agaaccgaga cttggagacg cgacggctcc gccagggggt gctgcgggcc caggcgctcc
      541 ggccccccga cggcccgggc tgggactgcg ccctccttcc cagccccggc cctaggagtc
      601 cccgagccgt aggctgcgca gagccagaaa tctgggaccc gtccccgcgt cggggtactt
      661 cacccgtccc gtcagtgcgg agtctgcgtt cagagcccgc taatcctcgc ttggggttac
      721 ctgccttgct caacagctac ccgctgaagg gccccgggct gcccccaccc tggggtccac
      781 ggacgcagac tggccatgtg atcatcaccg tgcagccgtc tggctcctgc attgaacatt
      841 ccaagtctct ggatctgggc cttggggagc tcctccttgg ggccccagca gctcgggact
      901 gtgctcaccg aagctggcca cggctggacc gcctcagtct tgggggctat gccaaattgg
      961 gaggaggagg ggacttgggg gcccgggtct gaagagaggg gagacagcct gctctgaggc
     1021 tgcagcatgg accatgctaa taggaccaaa ggaccaggag tcccaacgtc taatagatgt
     1081 ttcagtcaca tcccaggctg gggatggatg ctctgaccac agcagctgtg aagggcatcc
     1141 tgacctgcat gcgggcagag aaatgccagc tgcaccaggg ctcagtgagc tggagagggt
     1201 gcgtttcact gtggggtgtg gaggactcgc ctcaggaatt tcttcagcct ctgtaagtgg
     1261 ccttagccct aacagggctg gaggtccagg ccagggtgac tgggagatgt acccagtgtc
     1321 ttggcaaacc caagaaagtg gtgggcaagg gcccctaaga ctgggaggta ggttgggatg
     1381 ttacaggctg gggcaggctc cctccaaggc ggcactggtg atggagtgtg gggcctctgg
     1441 gaagatggac cacgggatga gactctccac tgccatctgg gacggggact gagccttgaa
     1501 ctcctaccac ctcaatccct ttcttccctc agccatctgg ggtatatccc tctagagcta
     1561 cactactgcc aatgccttca tactgagttc tgggcccttc tgcaaataag tctgagaagc
     1621 cccttctctc cttcctttat cgtggcctat gctgcagaat ctcactgcag ctggcaaaag
     1681 gcattggcca gctctcagaa atccctttac tcaacgttga agctgcattt tggtcaatgt
     1741 gggtaactta ctttagaaaa tgacttgagt ttaggtctcc cccacccata tttaattttt
     1801 cccaagttgc tggtagaaga gaaatttaaa agtggatcaa tcctcacaga gagagttctt
     1861 tttgttgttg tttattgaaa aaaatgcaat acaagaagca agaccaaaca gatatctaaa
     1921 cactacaacc acttctacta cgaaaggcca aaacagcaga cttgattatt gcctgtgtag
     1981 tctaaagatt ctgccaatct gattctgctg cccgagttcc tattttttca agaaatgtaa
     2041 acaactactt gatatgattc ataattttaa aaaaaattta caaagctcct tcatttttgt
     2101 caccaaaata atacatttga gagagatttg tagaaacaac cagcctgggg ctgagatcct
     2161 gggcagaaat ttcccgtgag catcaaaagg cgtcagtcag gccgcagctc tggctccagt
     2221 tcccgaggtt tgttgtctcc tcacccccag ctgccaagca tccccccaac acacactgat
     2281 gggcccagcg gtggaggggg gggtggggac ggggatgggt cacggggccc tgacgggtcc
     2341 cgcagttagg ctccctgagc cctcggctta taaatacagg tcttgctttg tgggtgggtg
     2401 ccagagtcct catgtggctt ggaggaaatc tttatttctc aaattaaaat aaaattgcag
     2461 cgagagtt
//
LOCUS       NM_001003692             945 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger matrin-type 5 (ZMAT5), transcript variant
            2, mRNA.
ACCESSION   NM_001003692
VERSION     NM_001003692.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 945)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 945)
  AUTHORS   Wang VW, Laborde RR, Asmann YW, Li Y, Ma J, Eckloff BW, Tombers NM,
            Olsen SM, Moore EJ, Olsen KD and Smith DI.
  TITLE     Search for chromosome rearrangements: new approaches toward
            discovery of novel translocations in head and neck squamous cell
            carcinoma
  JOURNAL   Head Neck 35 (6), 831-835 (2013)
   PUBMED   22807096
REFERENCE   3  (bases 1 to 945)
  AUTHORS   Kim JM, Lee KH, Jeon YJ, Oh JH, Jeong SY, Song IS, Kim JM, Lee DS
            and Kim NS.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
REFERENCE   4  (bases 1 to 945)
  AUTHORS   Will CL, Schneider C, Hossbach M, Urlaub H, Rauhut R, Elbashir S,
            Tuschl T and Luhrmann R.
  TITLE     The human 18S U11/U12 snRNP contains a set of novel proteins not
            found in the U2-dependent spliceosome
  JOURNAL   RNA 10 (6), 929-941 (2004)
   PUBMED   15146077
REFERENCE   5  (bases 1 to 945)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   6  (bases 1 to 945)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH,
            Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC009717.1, SRR1163655.154251.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000344318.4/ ENSP00000344241.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004882.3, BU598307.1 and BC009717.1.
            On May 17, 2019 this sequence version replaced NM_001003692.1.
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same protein.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..945
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..945
                     /gene="ZMAT5"
                     /gene_synonym="SNRNP20; U11/U12-20K; ZC3H19"
                     /note="zinc finger matrin-type 5"
                     /db_xref="GeneID:55954"
                     /db_xref="HGNC:HGNC:28046"
                     /db_xref="MIM:619741"
     misc_feature    155..157
                     /gene="ZMAT5"
                     /gene_synonym="SNRNP20; U11/U12-20K; ZC3H19"
                     /note="upstream in-frame stop codon"
     CDS             164..676
                     /gene="ZMAT5"
                     /gene_synonym="SNRNP20; U11/U12-20K; ZC3H19"
                     /note="U11/U12 snRNP 20K; U11/U12 snRNP 20 kDa protein;
                     U11/U12 small nuclear ribonucleoprotein 20 kDa protein;
                     zinc finger CCCH-type containing 19"
                     /codon_start=1
                     /product="zinc finger matrin-type protein 5"
                     /protein_id="NP_001003692.1"
                     /db_xref="CCDS:CCDS13868.1"
                     /db_xref="GeneID:55954"
                     /db_xref="HGNC:HGNC:28046"
                     /db_xref="MIM:619741"
                     /translation="MGKRYFCDYCDRSFQDNLHNRKKHLNGLQHLKAKKVWYDMFRDAA
                     AILLDEQNKRPCRKFLLTGQCDFGSNCRFSHMSERDLQELSIQVEEERRAREWLLDAPE
                     LPEGHLEDWLEKRAKRLSSAPSSRAEPIRTTVFQYPVGWPPVQELPPSLRAPPPGGWPL
                     QPRVQWG"
     misc_feature    611..673
                     /gene="ZMAT5"
                     /gene_synonym="SNRNP20; U11/U12-20K; ZC3H19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UDW3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      927..932
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZMAT5"
                     /gene_synonym="SNRNP20; U11/U12-20K; ZC3H19"
                     /note="hexamer: AAGAAA"
     polyA_site      945
                     /gene="ZMAT5"
                     /gene_synonym="SNRNP20; U11/U12-20K; ZC3H19"
                     /note="major polyA site"
ORIGIN
        1 agtacgcgac gcgaggacgc aggaggagga gcccggagct gcagccaccg gggagccagg
       61 taccttccgc gagacgtcga ggggcgagtc ctagtctctt ttctccgcac tggaagactt
      121 gaacacttcc ttctctgcag caaagcacct gctctgagtg gccatgggga agcgatactt
      181 ctgtgactac tgcgaccgct ccttccagga caacctccac aaccgcaaga agcacctgaa
      241 cgggctgcag cacctcaagg ccaagaaggt ctggtacgac atgttccgag atgcagctgc
      301 catcttgctg gatgagcaga acaagcggcc ctgcaggaag tttctactga caggccagtg
      361 cgactttggc tccaactgca gattttccca catgtcagag cgagacctgc aggagctgag
      421 catccaggtg gaggaggaga ggcgagccag ggagtggcta ctagatgctc ctgagctccc
      481 cgagggccat ctggaggact ggctggagaa gagagccaag cggctgagct cagccccaag
      541 tagcagggct gaacccatca gaaccactgt cttccagtac cccgtgggct ggccaccagt
      601 tcaggagctg cctccatccc tgcgggcacc cccacctggg gggtggcctc tgcagcccag
      661 agtccagtgg ggctgagccc cttgcccccg actgaccccc acgtggtcac ttttctcatc
      721 agtcacaata ggaagccaag cccggttcct gctacgcccc atggaggctc cgagaccatc
      781 tgcccagcct cactgaggct caggacacgg ccacaccaag tgcagccctc gtcctgggtc
      841 tgcaccgggc agctctcccc tcactctcct ccacctgccc ccctgcttct taagaagatg
      901 ggggagaaaa cttccaaatg tttataaaga aagtctgtca ccaca
//
LOCUS       NM_001003693            1023 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens lymphocyte antigen 6 family member G6F (LY6G6F), mRNA.
ACCESSION   NM_001003693
VERSION     NM_001003693.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1023)
  AUTHORS   Ucisik-Akkaya E, Davis CF, Do TN, Morrison BA, Stemmer SM, Amadio WJ
            and Dorak MT.
  TITLE     Examination of genetic polymorphisms in newborns for signatures of
            sex-specific prenatal selection
  JOURNAL   Mol Hum Reprod 16 (10), 770-777 (2010)
   PUBMED   20587610
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 1023)
  AUTHORS   Barcellos LF, May SL, Ramsay PP, Quach HL, Lane JA, Nititham J,
            Noble JA, Taylor KE, Quach DL, Chung SA, Kelly JA, Moser KL, Behrens
            TW, Seldin MF, Thomson G, Harley JB, Gaffney PM and Criswell LA.
  TITLE     High-density SNP screening of the major histocompatibility complex
            in systemic lupus erythematosus demonstrates strong evidence for
            independent susceptibility regions
  JOURNAL   PLoS Genet 5 (10), e1000696 (2009)
   PUBMED   19851445
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 1023)
  AUTHORS   Macaulay IC, Tijssen MR, Thijssen-Timmer DC, Gusnanto A, Steward M,
            Burns P, Langford CF, Ellis PD, Dudbridge F, Zwaginga JJ, Watkins
            NA, van der Schoot CE and Ouwehand WH.
  TITLE     Comparative gene expression profiling of in vitro differentiated
            megakaryocytes and erythroblasts identifies novel activatory and
            inhibitory platelet membrane proteins
  JOURNAL   Blood 109 (8), 3260-3269 (2007)
   PUBMED   17192395
REFERENCE   4  (bases 1 to 1023)
  AUTHORS   De Vet EC, Aguado B and Campbell RD.
  TITLE     Adaptor signalling proteins Grb2 and Grb7 are recruited by human
            G6f, a novel member of the immunoglobulin superfamily encoded in the
            MHC
  JOURNAL   Biochem J 375 (Pt 1), 207-213 (2003)
   PUBMED   12852788
  REMARK    GeneRIF: G6f recruits adaptor signalling proteins Grb2 and Grb7.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC137212.1, KU253635.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144333,
            SAMEA2149004 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375832.5/ ENSP00000364992.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC137212.1 and AJ496460.1.
            On Jun 2, 2019 this sequence version replaced NM_001003693.2.
            Summary: The human G6f protein is a type I transmembrane protein
            belonging to the immunoglobin (Ig) superfamily, which is comprised
            of cell-surface proteins involved in the immune system and cellular
            recognition (de Vet et al., 2003 [PubMed 12852788]).[supplied by
            OMIM, Mar 2008].
FEATURES             Location/Qualifiers
     source          1..1023
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..1023
                     /gene="LY6G6F"
                     /gene_synonym="C6orf21; G6f; LY6G6; LY6G6D; NG32"
                     /note="lymphocyte antigen 6 family member G6F"
                     /db_xref="GeneID:259215"
                     /db_xref="HGNC:HGNC:13933"
                     /db_xref="MIM:611404"
     CDS             42..935
                     /gene="LY6G6F"
                     /gene_synonym="C6orf21; G6f; LY6G6; LY6G6D; NG32"
                     /note="lymphocyte antigen 6 complex locus protein G6f;
                     lymphocyte antigen 6 complex, locus G6D; lymphocyte antigen
                     6 complex, locus G6F"
                     /codon_start=1
                     /product="lymphocyte antigen 6 complex locus protein G6f
                     precursor"
                     /protein_id="NP_001003693.1"
                     /db_xref="CCDS:CCDS34403.1"
                     /db_xref="GeneID:259215"
                     /db_xref="HGNC:HGNC:13933"
                     /db_xref="MIM:611404"
                     /translation="MAVLFLLLFLCGTPQAADNMQAIYVALGEAVELPCPSPPTLHGDE
                     HLSWFCSPAAGSFTTLVAQVQVGRPAPDPGKPGRESRLRLLGNYSLWLEGSKEEDAGRY
                     WCAVLGQHHNYQNWRVYDVLVLKGSQLSARAADGSPCNVLLCSVVPSRRMDSVTWQEGK
                     GPVRGRVQSFWGSEAALLLVCPGEGLSEPRSRRPRIIRCLMTHNKGVSFSLAASIDASP
                     ALCAPSTGWDMPWILMLLLTMGQGVVILALSIVLWRQRVRGAPGRDASIPQFKPEIQVY
                     ENIHLARLGPPAHKPR"
     sig_peptide     42..89
                     /gene="LY6G6F"
                     /gene_synonym="C6orf21; G6f; LY6G6; LY6G6D; NG32"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    303..305
                     /gene="LY6G6F"
                     /gene_synonym="C6orf21; G6f; LY6G6; LY6G6D; NG32"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16263699; propagated from
                     UniProtKB/Swiss-Prot (Q5SQ64.2); glycosylation site"
     misc_feature    747..809
                     /gene="LY6G6F"
                     /gene_synonym="C6orf21; G6f; LY6G6; LY6G6D; NG32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SQ64.2);
                     transmembrane region"
     misc_feature    882..884
                     /gene="LY6G6F"
                     /gene_synonym="C6orf21; G6f; LY6G6; LY6G6D; NG32"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:12852788; propagated from
                     UniProtKB/Swiss-Prot (Q5SQ64.2); phosphorylation site"
ORIGIN
        1 acaccaggtc ttggagcaag agaacttggc aggctctccc catggcagtc ttattcctcc
       61 tcctgttcct atgtggaact ccccaggctg cagacaacat gcaggccatc tatgtggcct
      121 tgggggaggc agtagagctg ccatgtccct caccacctac tctacatggg gacgaacacc
      181 tgtcatggtt ctgcagccct gcagcaggct ccttcaccac cctggtagcc caagtccaag
      241 tgggcaggcc agccccagac cctggaaaac caggaaggga atccaggctc agactgctgg
      301 ggaactattc tttgtggttg gagggatcca aagaggaaga tgccgggcgg tactggtgcg
      361 ctgtgctagg tcagcaccac aactaccaga actggagggt gtacgacgtc ttggtgctca
      421 aaggatccca gttatctgca agggctgcag atggatcccc ctgcaatgtc ctcctgtgct
      481 ctgtggtccc cagcagacgc atggactctg tgacctggca ggaagggaag ggtcccgtga
      541 ggggccgtgt tcagtccttc tggggcagtg aggctgccct gctcttggtg tgtcctgggg
      601 aggggctttc tgagcccagg agccgaagac caagaatcat ccgctgcctc atgactcaca
      661 acaaaggggt cagctttagc ctggcagcct ccatcgatgc ttctcctgcc ctctgtgccc
      721 cttccacggg ctgggacatg ccttggattc tgatgctgct gctcacaatg ggccagggag
      781 ttgtcatcct ggccctcagc atcgtgctct ggaggcagag ggtccgtggg gctccaggca
      841 gagatgcctc gattcctcag ttcaaacccg aaatccaggt ctatgagaac atccatttgg
      901 cccgtcttgg cccacctgcc cacaagccca ggtgattttg gtgacatctg ctgggaagtg
      961 tgacctgctg tctcgctggc catctggcac ctggaagatt cctcgacaac cttagcaagg
     1021 ggg
//
LOCUS       NM_001003694            4743 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens bromodomain and PHD finger containing 1 (BRPF1),
            transcript variant 1, mRNA.
ACCESSION   NM_001003694
VERSION     NM_001003694.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4743)
  AUTHORS   Ling J, Tang Z, Yang W, Li Y and Dong X.
  TITLE     Pygo2 activates BRPF1 via Pygo2-H3K4me2/3 interaction to maintain
            malignant progression in colon cancer
  JOURNAL   Exp Cell Res 431 (1), 113696 (2023)
   PUBMED   37423512
  REMARK    GeneRIF: Pygo2 activates BRPF1 via Pygo2-H3K4me2/3 interaction to
            maintain malignant progression in colon cancer.
REFERENCE   2  (bases 1 to 4743)
  AUTHORS   Kose CC, Kaya D, Akcan MB and Silan F.
  TITLE     Anemia and thrombocytopenia due to a novel BRPF1 variant in a family
            from Canakkale with intellectual disability and dysmorphic facies:
            Case report and review of the literature
  JOURNAL   Am J Med Genet A 191 (8), 2209-2214 (2023)
   PUBMED   37190896
  REMARK    GeneRIF: Anemia and thrombocytopenia due to a novel BRPF1 variant in
            a family from Canakkale with intellectual disability and dysmorphic
            facies: Case report and review of the literature. Review article
REFERENCE   3  (bases 1 to 4743)
  AUTHORS   Cheng CL, Tsang FH, Wei L, Chen M, Chin DW, Shen J, Law CT, Lee D,
            Wong CC, Ng IO and Wong CM.
  TITLE     Bromodomain-containing protein BRPF1 is a therapeutic target for
            liver cancer
  JOURNAL   Commun Biol 4 (1), 888 (2021)
   PUBMED   34285329
  REMARK    GeneRIF: Bromodomain-containing protein BRPF1 is a therapeutic
            target for liver cancer. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4743)
  AUTHORS   Aiello G, Ballabio C, Ruggeri R, Fagnocchi L, Anderle M, Morassut I,
            Caron D, Garilli F, Gianno F, Giangaspero F, Piazza S, Romanel A,
            Zippo A and Tiberi L.
  TITLE     Truncated BRPF1 Cooperates with Smoothened to Promote Adult Shh
            Medulloblastoma
  JOURNAL   Cell Rep 29 (12), 4036-4052 (2019)
   PUBMED   31851932
  REMARK    GeneRIF: Truncated BRPF1 Cooperates with Smoothened to Promote Adult
            Shh Medulloblastoma.
REFERENCE   5  (bases 1 to 4743)
  AUTHORS   Lalonde ME, Avvakumov N, Glass KC, Joncas FH, Saksouk N, Holliday M,
            Paquet E, Yan K, Tong Q, Klein BJ, Tan S, Yang XJ, Kutateladze TG
            and Cote J.
  TITLE     Exchange of associated factors directs a switch in HBO1
            acetyltransferase histone tail specificity
  JOURNAL   Genes Dev 27 (18), 2009-2024 (2013)
   PUBMED   24065767
REFERENCE   6  (bases 1 to 4743)
  AUTHORS   Vezzoli A, Bonadies N, Allen MD, Freund SM, Santiveri CM, Kvinlaug
            BT, Huntly BJ, Gottgens B and Bycroft M.
  TITLE     Molecular basis of histone H3K36me3 recognition by the PWWP domain
            of Brpf1
  JOURNAL   Nat Struct Mol Biol 17 (5), 617-619 (2010)
   PUBMED   20400950
  REMARK    GeneRIF: Identified is the PWWP domain of bromo and plant
            homeodomain (PHD) finger-containing protein 1 (BRPF1) as a histone
            H3 (H3K36me3) binding module; determined is the structure of this
            domain in complex with an H3K36me3-derived peptide.
REFERENCE   7  (bases 1 to 4743)
  AUTHORS   Ullah M, Pelletier N, Xiao L, Zhao SP, Wang K, Degerny C, Tahmasebi
            S, Cayrou C, Doyon Y, Goh SL, Champagne N, Cote J and Yang XJ.
  TITLE     Molecular architecture of quartet MOZ/MORF histone acetyltransferase
            complexes
  JOURNAL   Mol Cell Biol 28 (22), 6828-6843 (2008)
   PUBMED   18794358
  REMARK    Erratum:[Mol Cell Biol. 2009 Feb;29(3):942]
REFERENCE   8  (bases 1 to 4743)
  AUTHORS   Doyon Y, Cayrou C, Ullah M, Landry AJ, Cote V, Selleck W, Lane WS,
            Tan S, Yang XJ and Cote J.
  TITLE     ING tumor suppressor proteins are critical regulators of chromatin
            acetylation required for genome expression and perpetuation
  JOURNAL   Mol Cell 21 (1), 51-64 (2006)
   PUBMED   16387653
REFERENCE   9  (bases 1 to 4743)
  AUTHORS   Gregorini A, Sahin FI, Lillington DM, Meerabux J, Saha V, McCullagh
            P, Bocci M, Menevse S, Papa S and Young BD.
  TITLE     Gene BR140, which is related to AF10 and AF17, maps to chromosome
            band 3p25
  JOURNAL   Genes Chromosomes Cancer 17 (4), 269-272 (1996)
   PUBMED   8946209
REFERENCE   10  (bases 1 to 4743)
  AUTHORS   Thompson KA, Wang B, Argraves WS, Giancotti FG, Schranck DP and
            Ruoslahti E.
  TITLE     BR140, a novel zinc-finger protein with homology to the TAF250
            subunit of TFIID
  JOURNAL   Biochem Biophys Res Commun 198 (3), 1143-1152 (1994)
   PUBMED   7906940
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC053851.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000383829.7/ ENSP00000373340.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK293865.1, BC053851.1 and
            AI356310.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 23, 2019 this sequence version replaced NM_001003694.1.
            Summary: This gene encodes a bromodomain, PHD finger and
            chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing
            protein. The encoded protein is a component of the MOZ/MORF histone
            acetyltransferase complexes which function as a transcriptional
            regulators. This protein binds to the catalytic MYST domains of the
            MOZ and MORF proteins and may play a role in stimulating
            acetyltransferase and transcriptional activity of the complex.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2016].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4743
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..4743
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="bromodomain and PHD finger containing 1"
                     /db_xref="GeneID:7862"
                     /db_xref="HGNC:HGNC:14255"
                     /db_xref="MIM:602410"
     misc_feature    382..384
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="upstream in-frame stop codon"
     CDS             415..4077
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="isoform 1 is encoded by transcript variant 1;
                     peregrin; bromodomain-containing protein, 140kD"
                     /codon_start=1
                     /product="peregrin isoform 1"
                     /protein_id="NP_001003694.1"
                     /db_xref="CCDS:CCDS33692.1"
                     /db_xref="GeneID:7862"
                     /db_xref="HGNC:HGNC:14255"
                     /db_xref="MIM:602410"
                     /translation="MGVDFDVKTFCHNLRATKPPYECPVETCRKVYKSYSGIEYHLYHY
                     DHDNPPPPQQTPLRKHKKKGRQSRPANKQSPSPSEVSQSPGREVMSYAQAQRMVEVDLH
                     GRVHRISIFDNLDVVSEDEEAPEEAPENGSNKENTETPAATPKSGKHKNKEKRKDSNHH
                     HHHNVSASTTPKLPEVVYRELEQDTPDAPPRPTSYYRYIEKSAEELDEEVEYDMDEEDY
                     IWLDIMNERRKTEGVSPIPQEIFEYLMDRLEKESYFESHNKGDPNALVDEDAVCCICND
                     GECQNSNVILFCDMCNLAVHQECYGVPYIPEGQWLCRRCLQSPSRAVDCALCPNKGGAF
                     KQTDDGRWAHVVCALWIPEVCFANTVFLEPIDSIEHIPPARWKLTCYICKQRGSGACIQ
                     CHKANCYTAFHVTCAQQAGLYMKMEPVRETGANGTSFSVRKTAYCDIHTPPGSARRLPA
                     LSHSEGEEDEDEEEDEGKGWSSEKVKKAKAKSRIKMKKARKILAEKRAAAPVVSVPCIP
                     PHRLSKITNRLTIQRKSQFMQRLHSYWTLKRQSRNGVPLLRRLQTHLQSQRNCDQVGRD
                     SEDKNWALKEQLKSWQRLRHDLERARLLVELIRKREKLKRETIKVQQIAMEMQLTPFLI
                     LLRKTLEQLQEKDTGNIFSEPVPLSEVTELDEVPDYLDHIKKPMDFFTMKQNLEAYRYL
                     NFDDFEEDFNLIVSNCLKYNAKDTIFYRAAVRLREQGGAVLRQARRQAEKMGIDFETGM
                     HIPHSLAGDEATHHTEDAAEEERLVLLENQKHLPVEEQLKLLLERLDEVNASKQSVGRS
                     RRAKMIKKEMTALRRKLAHQRETGRDGPERHGPSSRGSLTPHPAACDKDGQTDSAAEES
                     SSQETSKGLGPNMSSTPAHEVGRRTSVLFSKKNPKTAGPPKRPGRPPKNRESQMTPSHG
                     GSPVGPPQLPIMSSLRQRKRGRSPRPSSSSDSDSDKSTEDPPMDLPANGFSGGNQPVKK
                     SFLVYRNDCSLPRSSSDSESSSSSSSSAASDRTSTTPSKQGRGKPSFSRGTFPEDSSED
                     TSGTENEAYSVGTGRGVGHSMVRKSLGRGAGWLSEDEDSPLDALDLVWAKCRGYPSYPA
                     LIIDPKMPREGMFHHGVPIPVPPLEVLKLGEQMTQEAREHLYLVLFFDNKRTWQWLPRT
                     KLVPLGVNQDLDKEKMLEGRKSNIRKSVQIAYHRALQHRSKVQGEQSSETSDSD"
     misc_feature    541..675
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="propagated from UniProtKB/Swiss-Prot (P55201.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    589..1080
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="propagated from UniProtKB/Swiss-Prot (P55201.2);
                     Region: Interaction with KAT6A and KAT6B.
                     /evidence=ECO:0000269|PubMed:18794358"
     misc_feature    766..945
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="propagated from UniProtKB/Swiss-Prot (P55201.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    772..774
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P55201.2); phosphorylation site"
     misc_feature    853..855
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:B2RRD7; propagated from
                     UniProtKB/Swiss-Prot (P55201.2); acetylation site"
     misc_feature    1126..1128
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P55201.2); phosphorylation site"
     misc_feature    1756..1881
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="propagated from UniProtKB/Swiss-Prot (P55201.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1792..1794
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P55201.2); phosphorylation site"
     misc_feature    1798..1800
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P55201.2); phosphorylation site"
     misc_feature    2152..2154
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:B2RRD7; propagated from
                     UniProtKB/Swiss-Prot (P55201.2); acetylation site"
     misc_feature    2887..3618
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="propagated from UniProtKB/Swiss-Prot (P55201.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3004..3006
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:B2RRD7; propagated from
                     UniProtKB/Swiss-Prot (P55201.2); phosphorylation site"
     misc_feature    3010..3012
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P55201.2); phosphorylation site"
     misc_feature    3181..3183
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B2RRD7; propagated from
                     UniProtKB/Swiss-Prot (P55201.2); phosphorylation site"
     misc_feature    3196..3198
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B2RRD7; propagated from
                     UniProtKB/Swiss-Prot (P55201.2); phosphorylation site"
     misc_feature    3208..3210
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B2RRD7; propagated from
                     UniProtKB/Swiss-Prot (P55201.2); phosphorylation site"
     misc_feature    3658..3660
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P55201.2);
                     phosphorylation site"
     misc_feature    3991..3993
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P55201.2); phosphorylation site"
     regulatory      4724..4729
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="hexamer: AATAAA"
     polyA_site      4729
                     /gene="BRPF1"
                     /gene_synonym="BR140; IDDDFP"
                     /note="major polyA site"
ORIGIN
        1 accctgcgca gacgccgtcg ccgccgctgc tgccgccgcc gctgccacag cctttgccgc
       61 cacggtctcc gccgccgctg tcctcgcgct gcctctggga gcctccattg ttccagcagc
      121 gcccggtccc gagaccgggc atcttggggg ctcgcgaaac gggcggcggc cgacggagtt
      181 gagaccccag ggcgccggcg ggaccaggag cggcaggggt cagctcagga atcccgggga
      241 gccgggacca aagcgtgggg cggcaggggg ccggggtggc gaggtctacg gtctccggag
      301 ttggggctcc cccttcccgg cccgactttc cccgccgacc tccccaagtg gggtcggagc
      361 cccggcgggc gcccccggcg atgagcccgg actcgaggtg gccgatgtga cagcatgggg
      421 gtggactttg atgtgaagac tttctgccac aacttgcggg cgactaagcc accatacgag
      481 tgcccggtgg agacctgccg aaaggtctac aagagttaca gtggtattga gtaccacctg
      541 taccactatg accacgacaa cccaccaccc ccacaacaaa ctccactccg caagcacaag
      601 aaaaaggggc gccagtcacg cccagccaac aagcagtcac ccagcccctc agaggtctca
      661 cagtcaccag gccgtgaggt gatgagctat gcacaggccc agcgcatggt ggaggtggac
      721 ttgcatggcc gcgtccaccg catcagcatc tttgacaacc tggatgtggt gtcagaggat
      781 gaggaagccc ccgaggaggc ccctgagaat ggcagcaaca aggagaacac tgagacacca
      841 gctgctactc ccaagtcagg caaacataag aacaaggaga agcgcaagga ctccaaccat
      901 caccaccacc acaatgtttc tgcgagcacc actcccaagc tgccagaggt ggtctatcgg
      961 gagctggaac aggacacccc tgatgcccca ccccggccaa cttcctatta ccggtacatc
     1021 gagaagtctg cagaggagct ggacgaggaa gtagagtatg acatggacga ggaggactac
     1081 atctggctgg atatcatgaa tgagcgtcgg aagacagagg gtgtaagtcc catcccgcag
     1141 gagatctttg agtacctaat ggaccgactg gagaaggagt cgtactttga gagtcataat
     1201 aaaggcgacc ctaatgcgct agtggacgag gatgctgttt gctgtatctg caatgatggt
     1261 gagtgccaga acagcaatgt catcctcttc tgtgacatgt gcaacctggc cgtgcaccag
     1321 gagtgctacg gtgtccccta tatccctgag ggccagtggc tgtgccgccg ttgcctgcag
     1381 tcaccctctc gtgctgtgga ttgtgccctg tgccccaaca agggcggtgc cttcaagcag
     1441 acagatgacg ggcgctgggc ccatgtggtg tgtgccttgt ggatccctga ggtctgcttc
     1501 gccaacacgg tcttcctaga gcctattgac agcattgagc acatcccacc agctcgctgg
     1561 aagctcacct gctacatttg caaacaacgg ggctcagggg cctgcatcca gtgccacaag
     1621 gccaactgtt acacagcttt ccatgtgaca tgcgcccagc aggctggcct ttacatgaag
     1681 atggagcctg tgcgggagac aggcgccaac ggcacctctt tcagtgtccg caagacagcc
     1741 tactgcgaca tccacacgcc tccaggttca gcacgccgac tgcctgccct gtcccacagc
     1801 gagggtgagg aggatgaaga tgaggaggag gatgagggta agggctggag ctcagagaaa
     1861 gtcaagaagg ccaaggccaa gtcccggatc aaaatgaaga aggcacggaa gatcctggca
     1921 gagaagcggg cagcagcacc tgtggtgtca gtgccctgca tcccaccaca caggcttagt
     1981 aaaatcacca accgcctgac catccaaagg aagagccagt tcatgcagag gctgcacagc
     2041 tactggacac tgaagcggca gtcacggaat ggggtcccat tgctacgtcg cctgcagaca
     2101 cacctgcaat ctcagaggaa ctgtgaccaa gttgggagag attctgagga taagaactgg
     2161 gcccttaaag aacagctcaa gtcctggcag cggctccggc atgacttgga gcgagctcgg
     2221 ctgctcgtgg aattgatccg caagcgggaa aaactcaaaa gggagacgat caaggttcag
     2281 cagattgcca tggagatgca gctgactcct ttcctcatcc tccttcgcaa aaccttggag
     2341 cagctccaag agaaggacac aggcaacatc ttcagcgagc cggtccctct gtctgaggta
     2401 accgaattgg acgaagtacc tgactaccta gaccacatca aaaagcccat ggactttttc
     2461 accatgaagc agaacttgga ggcttaccgc tacctgaatt ttgatgattt tgaggaggac
     2521 ttcaacctca tcgtcagcaa ctgcctcaag tataacgcca aggacaccat cttctaccgg
     2581 gcagcagtgc ggcttcgtga gcagggtggt gctgtgctcc gccaggcccg gcgccaggca
     2641 gaaaaaatgg gcattgactt tgagacgggc atgcatatcc cccacagcct ggctggagat
     2701 gaggccacac accacactga agatgcagcc gaggaagagc ggctggtctt gctggagaac
     2761 cagaagcacc tgccagtgga agaacagcta aagctgcttc tggagcggct ggacgaagtg
     2821 aatgccagca agcagagtgt gggccgctca cggcgtgcaa agatgatcaa gaaagagatg
     2881 acggcactgc ggcggaagct tgcccatcag cgagagacgg gacgtgatgg ccctgagcgg
     2941 catggcccct cgagccgggg tagtctgaca ccccacccgg cagcctgtga caaggatggg
     3001 cagacagata gtgcggcaga ggagagcagc agccaggaga caagcaaagg cctgggtccc
     3061 aacatgtcct caacccccgc acatgaggtg ggcaggagaa cctcagttct gttctccaaa
     3121 aagaacccga agacagctgg accgcccaag aggccgggcc ggccccccaa aaaccgggag
     3181 agccagatga cccccagcca cggaggcagt cctgtggggc ccccccagct ccccatcatg
     3241 agttccctgc gtcagcgcaa gcggggtagg agcccccggc ccagttcgag ctcagacagc
     3301 gacagtgata agtccacaga agacccccca atggacttac cagccaatgg cttcagcggt
     3361 ggaaaccaac cagtgaagaa gagtttcttg gtataccgta atgactgcag ccttccccgg
     3421 agcagctcag actctgagtc cagcagcagt agcagtagca gcgctgcttc agaccggacc
     3481 agcacaacgc cctcaaaaca aggccggggc aaaccctcct tctctcgggg cactttccca
     3541 gaggacagca gtgaggatac ctcaggcact gagaatgagg cctactccgt gggcactggc
     3601 cgcggcgtgg gccacagcat ggtaaggaag agtctgggcc ggggagctgg ctggctgtca
     3661 gaggatgagg actccccgct ggatgctctg gacctcgtgt gggccaaatg ccgaggctat
     3721 ccatcatacc cagctctgat cattgatcca aagatgcccc gagaaggtat gttccaccat
     3781 ggggttccca tccctgtgcc cccactggag gtgctgaaac ttggggagca gatgacccag
     3841 gaagcccgag agcatctcta cctcgtcctc ttctttgaca acaaacgaac ctggcagtgg
     3901 ctgcccagga ccaagctggt tcctctgggt gtgaaccagg acctagacaa ggagaagatg
     3961 ctggagggcc gcaagtccaa catccgcaag tcagtacaga tcgcctacca cagggctctg
     4021 cagcaccgca gcaaggtgca aggcgagcag agcagtgaga ccagcgatag tgattgatac
     4081 tgctcaacac agcccaacct atagtgccct gtgacttctc tcctcccctt tgctcactgt
     4141 cctggagtgg caccggcctc tgcactgact catttctggt cttggggcca gtctcagggg
     4201 aagctgggtg ggggaggtcc ctcctgccct aagtgcagct ggactgtaca gaacactcca
     4261 agggccaatg gcagttcagc gcaaggagag ggagggccca caggtcagaa aaagctccag
     4321 agacctcaca gcattgtagg gcggggtggt gggccaaagt taggacactg cgtaaaacag
     4381 gccatcccac cacctctacc tgctcatgcc aggagaatcc ataactgcct agaggcctgg
     4441 ggcccctacc ggtcgtgagg tgagtgggca tctgtccagc ctggaagagg ggcactaggt
     4501 gactccctcc cctgctgttg taaatactgt aattatcgga gaatttaaat tattctcatt
     4561 tgtaactgcg tttccgggtc gcgccagagt catttggtac taaaaaaaaa aaaaaaaaag
     4621 actgggggct gtccccattt cccttctctt tcccatagat tcccccacct ttcaaactgg
     4681 tttgtattta tttcaaagga agaaaatata ttgattctta gaaaataaac tgtcaattta
     4741 gaa
//
LOCUS       NM_001003699            8625 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens ras responsive element binding protein 1 (RREB1),
            transcript variant 1, mRNA.
ACCESSION   NM_001003699
VERSION     NM_001003699.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8625)
  AUTHORS   Dong Q, Qiu H, Piao C, Li Z and Cui X.
  TITLE     LncRNA SNHG4 promotes prostate cancer cell survival and resistance
            to enzalutamide through a let-7a/RREB1 positive feedback loop and a
            ceRNA network
  JOURNAL   J Exp Clin Cancer Res 42 (1), 209 (2023)
   PUBMED   37596700
  REMARK    GeneRIF: LncRNA SNHG4 promotes prostate cancer cell survival and
            resistance to enzalutamide through a let-7a/RREB1 positive feedback
            loop and a ceRNA network. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 8625)
  AUTHORS   Mattis KK, Krentz NAJ, Metzendorf C, Abaitua F, Spigelman AF, Sun H,
            Ikle JM, Thaman S, Rottner AK, Bautista A, Mazzaferro E,
            Perez-Alcantara M, Manning Fox JE, Torres JM, Wesolowska-Andersen A,
            Yu GZ, Mahajan A, Larsson A, MacDonald PE, Davies B, den Hoed M and
            Gloyn AL.
  TITLE     Loss of RREB1 in pancreatic beta cells reduces cellular insulin
            content and affects endocrine cell gene expression
  JOURNAL   Diabetologia 66 (4), 674-694 (2023)
   PUBMED   36633628
  REMARK    GeneRIF: Loss of RREB1 in pancreatic beta cells reduces cellular
            insulin content and affects endocrine cell gene expression.
REFERENCE   3  (bases 1 to 8625)
  AUTHORS   Li H, Jiang Y, Hu J, Xu J, Chen L, Zhang G, Zhao J, Zong S, Guo Z,
            Li X, Zhao X and Jing Z.
  TITLE     The U2AF65/circNCAPG/RREB1 feedback loop promotes malignant
            phenotypes of glioma stem cells through activating the TGF-beta
            pathway
  JOURNAL   Cell Death Dis 14 (1), 23 (2023)
   PUBMED   36635261
  REMARK    GeneRIF: The U2AF65/circNCAPG/RREB1 feedback loop promotes malignant
            phenotypes of glioma stem cells through activating the TGF-beta
            pathway. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 8625)
  AUTHORS   Ma S, Wang H, Li W, Yan Z, Luo X and Lu P.
  TITLE     RREB1 promotes the development of parafollicular carcinogenesis
            through the Ras-Raf-1-ELK3 signaling pathway
  JOURNAL   Nucleosides Nucleotides Nucleic Acids 41 (10), 972-981 (2022)
   PUBMED   35737446
  REMARK    GeneRIF: RREB1 promotes the development of parafollicular
            carcinogenesis through the Ras-Raf-1-ELK3 signaling pathway.
REFERENCE   5  (bases 1 to 8625)
  AUTHORS   Gao Q, Wu Y, Lu C, Kai W, Xie W, Wang Q, Wang L, Liu S and Pan Y.
  TITLE     Knockdown of RREB1 inhibits cell proliferation via enhanced p16
            expression in gastric cancer
  JOURNAL   Cell Cycle 20 (23), 2465-2475 (2021)
   PUBMED   34666611
  REMARK    GeneRIF: Knockdown of RREB1 inhibits cell proliferation via enhanced
            p16 expression in gastric cancer.
REFERENCE   6  (bases 1 to 8625)
  AUTHORS   Ray SK, Nishitani J, Petry MW, Fessing MY and Leiter AB.
  TITLE     Novel transcriptional potentiation of BETA2/NeuroD on the secretin
            gene promoter by the DNA-binding protein Finb/RREB-1
  JOURNAL   Mol Cell Biol 23 (1), 259-271 (2003)
   PUBMED   12482979
REFERENCE   7  (bases 1 to 8625)
  AUTHORS   Zhang L, Zhao J and Edenberg HJ.
  TITLE     A human Raf-responsive zinc-finger protein that binds to divergent
            sequences
  JOURNAL   Nucleic Acids Res 27 (14), 2947-2956 (1999)
   PUBMED   10390538
REFERENCE   8  (bases 1 to 8625)
  AUTHORS   Thiagalingam A, Lengauer C, Baylin SB and Nelkin BD.
  TITLE     RREB1, a ras responsive element binding protein, maps to human
            chromosome 6p25
  JOURNAL   Genomics 45 (3), 630-632 (1997)
   PUBMED   9367691
REFERENCE   9  (bases 1 to 8625)
  AUTHORS   Fujimoto-Nishiyama A, Ishii S, Matsuda S, Inoue J and Yamamoto T.
  TITLE     A novel zinc finger protein, Finb, is a transcriptional activator
            and localized in nuclear bodies
  JOURNAL   Gene 195 (2), 267-275 (1997)
   PUBMED   9305772
REFERENCE   10  (bases 1 to 8625)
  AUTHORS   Thiagalingam A, De Bustros A, Borges M, Jasti R, Compton D, Diamond
            L, Mabry M, Ball DW, Baylin SB and Nelkin BD.
  TITLE     RREB-1, a novel zinc finger protein, is involved in the
            differentiation response to Ras in human medullary thyroid
            carcinomas
  JOURNAL   Mol Cell Biol 16 (10), 5335-5345 (1996)
   PUBMED   8816445
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB019254.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379938.7/ ENSP00000369270.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI818966.1, AB019254.1,
            AL355336.15, AL589644.6 and AL139095.15.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001003699.3.
            Summary: The protein encoded by this gene is a zinc finger
            transcription factor that binds to RAS-responsive elements (RREs)
            of gene promoters. It has been shown that the calcitonin gene
            promoter contains an RRE and that the encoded protein binds there
            and increases expression of calcitonin, which may be involved in
            Ras/Raf-mediated cell differentiation. Multiple transcript variants
            encoding several different isoforms have been found for this gene.
            [provided by RefSeq, Dec 2009].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8625
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.3"
     gene            1..8625
                     /gene="RREB1"
                     /gene_synonym="FINB; HNT; LZ321; RREB-1; Zep-1"
                     /note="ras responsive element binding protein 1"
                     /db_xref="GeneID:6239"
                     /db_xref="HGNC:HGNC:10449"
                     /db_xref="MIM:602209"
     misc_feature    370..372
                     /gene="RREB1"
                     /gene_synonym="FINB; HNT; LZ321; RREB-1; Zep-1"
                     /note="upstream in-frame stop codon"
     CDS             385..5613
                     /gene="RREB1"
                     /gene_synonym="FINB; HNT; LZ321; RREB-1; Zep-1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hindsight homolog; finger protein in nuclear bodies;
                     DNA-binding protein; raf-responsive zinc finger protein
                     LZ321; zinc finger motif enhancer-binding protein 1"
                     /codon_start=1
                     /product="ras-responsive element-binding protein 1 isoform
                     1"
                     /protein_id="NP_001003699.1"
                     /db_xref="CCDS:CCDS34335.1"
                     /db_xref="GeneID:6239"
                     /db_xref="HGNC:HGNC:10449"
                     /db_xref="MIM:602209"
                     /translation="MTSSSPAGLEGSDLSSINTMMSAVMSVGKVTENGGSPQGIKSPSK
                     PPGPNRIGRRNQETKEEKSSYNCPLCEKICTTQHQLTMHIRQHNTDTGGADHSCSICGK
                     SLSSASSLDRHMLVHSGERPYKCTVCGQSFTTNGNMHRHMKIHEKDPNSATATAPPSPL
                     KRRRLSSKRKLSHDAESEREDPAPAKKMVEDGQSGDLEKKADEVFHCPVCFKEFVCKYG
                     LETHMETHSDNPLRCDICCVTFRTHRGLLRHNALVHKQLPRDAMGRPFIQNNPSIPAGF
                     HDLGFTDFSCRKFPRISQAWCETNLRRCISEQHRFVCDTCDKAFPMLCSLALHKQTHVA
                     ADQGQEKPQATPLPGDALDQKGFLALLGLQHTKDVRPAPAEEPLPDDNQAIQLQTLKCQ
                     LPQDPGCTNLLSLSPFEAASLGGSLTVLPATKDSIKHLSLQPFQKGFIIQPDSSIVVKP
                     ISGESAIELADIQQILKMAASAPPQISLPPFSKAPAAPLQAIFKHMPPLKPKPLVTPRT
                     VVATSTPPPLINAQQASPGCISPSLPPPPLKLLKGSVEAASNAHLLQSKSGTQPHAATR
                     LSLQQPRAELPGQPEMKTQLEQDSIIEALLPLSMEAKIKQEITEGELKAFMTAPGGKKT
                     PAMRKVLYPCRFCNQVFAFSGVLRAHVRSHLGISPYQCNICDYIAADKAALIRHLRTHS
                     GERPYICKICHYPFTVKANCERHLRKKHLKATRKDIEKNIEYVSSSAAELVDAFCAPDT
                     VCRLCGEDLKHYRALRIHMRTHCGRGLGGGHKGRKPFECKECSAAFAAKRNCIHHILKQ
                     HLHVPEQDIESYVLAADGLGPAEAPAAEASGRGEDSGCAALGDCKPLTAFLEPQNGFLH
                     RGPTQPPPPHVSIKLEPASSFAVDFNEPLDFSQKGLALVQVKQENISFLSPSSLVPYDC
                     SMEPIDLSIPKNFRKGDKDLATPSEAKKPEEEAGSSEQPSPCPAPGPSLPVTLGPSGIL
                     ESPMAPAPAATPEPPAQPLQGPVQLAVPIYSSALVSSPPLVGSSALLSGTALLRPLRPK
                     PPLLLPKPPVTEELPPLASIAQIISSVSSAPTLLKTKVADPGPASTGSNTTASDSLGGS
                     VPKAATTATPAATTSPKESSEPPAPASSPEAASPTEQGPAGTSKKRGRKRGMRSRPRAN
                     SGGVDLDSSGEFASIEKMLATTDTNKFSPFLQTAEDNTQDEVAGAPADHHGPSDEEQGS
                     PPEDKLLRAKRNSYTNCLQKITCPHCPRVFPWASSLQRHMLTHTGQKPFPCQKCDAFFS
                     TKSNCERHQLRKHGVTTCSLRRNGLIPQSKESDVGSHDSTDSQSDAETAAAAGEVLDLT
                     SRDREQPSEGATELRQVAGDAPVEQATAETASPVHREEHGRGESHEPEEEHGTEESTGD
                     ADGAEEDASSNQSLDLDFATKLMDFKLAEGDGEAGAGGAASQEQKLACDTCGKSFKFLG
                     TLSRHRKAHGRQEPKDEKGDGASTAEEGPQPAPEQEEKPPETPAEVVESAPGAGEAPAE
                     KLAEETEGPSDGESAAEKRSSEKSDDDKKPKTDSPKSVASKADKRKKVCSVCNKRFWSL
                     QDLTRHMRSHTGERPYKCQTCERTFTLKHSLVRHQRIHQKARHAKHHGKDSDKEERGEE
                     DSENESTHSGNNAVSENEAELAPNASNHMAVTRSRKEGLASATKDCSHREEKVTAGWPS
                     EPGQGDLNPESPAALGQDLLEPRSKRPAHPILATADGASQLVGME"
     regulatory      5904..5909
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RREB1"
                     /gene_synonym="FINB; HNT; LZ321; RREB-1; Zep-1"
                     /note="hexamer: AACAAA"
     polyA_site      5921
                     /gene="RREB1"
                     /gene_synonym="FINB; HNT; LZ321; RREB-1; Zep-1"
     regulatory      8599..8604
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RREB1"
                     /gene_synonym="FINB; HNT; LZ321; RREB-1; Zep-1"
                     /note="hexamer: AATAAA"
     polyA_site      8625
                     /gene="RREB1"
                     /gene_synonym="FINB; HNT; LZ321; RREB-1; Zep-1"
                     /note="major polyA site"
ORIGIN
        1 attccttttc cggaacaagt ttgcatctct cctcggtctc tccctgaagc ccaccggtcc
       61 ccaacgcatc atgccaggga gccaagcgtc ctgcccggcc gttgctccga ctgtgtgttc
      121 caggagtggt ggctctgagg tgtgaccctg cccacgtttg ggcccagcca ggttcagccc
      181 cccaataagg agggcagctt gataacacaa agaaaacagt gtcaacgagt actaccaaga
      241 gaagaagaca agaggtcaac acagactcat tttctactcc gtgtgaatga tagctacagc
      301 aggggaaagt ttcatagtct atcagtgggt cagaaaatgg agttttatag cagaggcttc
      361 ttagaagctt aaacccctgt cccaatgacg tcaagttcgc ccgctggctt ggaaggttca
      421 gacctatctt ccatcaacac catgatgtcg gcggtcatga gtgtagggaa ggtcacagag
      481 aatggcggga gcccccaggg gatcaagtcc ccctcgaagc ctccaggacc aaatcggatt
      541 ggcagaagga accaggaaac gaaagaggag aagtcttcct ataactgccc cctgtgtgag
      601 aagatttgca ctacccagca ccagctgacc atgcacattc gccagcacaa cacagacact
      661 ggaggagccg accactcatg cagcatctgc ggaaagtcac tgagctcggc cagctccctc
      721 gatcgccaca tgctggtgca ctctggcgag aggccttaca agtgcactgt gtgtggccag
      781 tcatttacca ccaatgggaa catgcacaga catatgaaga tccatgagaa ggaccctaac
      841 agtgccacag ccacagcccc tccatctcct ctgaaacgta ggcgattgtc ctccaagagg
      901 aaactgagtc acgatgccga gtcagagaga gaagacccag caccagctaa aaagatggta
      961 gaagacgggc agtcaggtga cttggagaag aaagctgatg aagtctttca ctgcccagta
     1021 tgtttcaagg agtttgtttg caagtatgga ctggagaccc acatggagac ccattcagat
     1081 aacccactaa gatgtgacat ttgttgtgtc acctttcgaa cacatcgagg actgctgcgt
     1141 cacaacgcgc ttgtccacaa acaacttccc agggatgcaa tgggcagacc tttcatacag
     1201 aacaaccctt caattcctgc tggcttccac gacttaggat tcacggactt ctcctgtagg
     1261 aagtttcctc gcatttctca ggcctggtgc gaaacaaacc tgcggaggtg catcagcgag
     1321 caacaccgtt ttgtctgcga cacctgtgac aaggcgttcc ccatgctctg ctcactggct
     1381 ctgcacaagc agacccatgt ggcggcagac cagggtcaag aaaagccgca ggccacgccc
     1441 ctgcctggtg acgccctgga ccagaagggc ttcctggcct tgcttggcct gcagcacacc
     1501 aaagacgtca ggcctgcccc cgccgaggag cccctgccgg atgacaacca ggcaattcag
     1561 ctccagacac tcaagtgtca gctacctcag gaccccggct gcaccaacct gctgagcctg
     1621 tcacctttcg aagctgcttc cctaggcggt tctctcacag ttctccccgc gaccaaggac
     1681 agcataaagc acctgtccct gcagcccttc cagaagggct tcatcatcca gcctgacagc
     1741 agcattgtgg tcaagcccat ctctggcgag tcggccatcg agctggcaga catccagcaa
     1801 attctgaaga tggcagcctc ggctccccct cagatcagtc ttccgccctt ctccaaggcc
     1861 cctgccgccc cactgcaggc gatcttcaag cacatgcccc ctctgaagcc aaagcccctg
     1921 gtcacaccac ggacggtggt ggccacctcc acgcccccgc ctctcatcaa cgcccagcag
     1981 gcttccccgg gctgtatcag ccccagcctg ccgccaccgc ccctgaagct cctcaaaggc
     2041 tcagtggagg cggcctccaa cgcccacctg ctgcagtcca agtccgggac ccagccccac
     2101 gcggccacgc ggctctccct gcagcagccg cgggcggagc tgccgggcca gcctgagatg
     2161 aagacgcagc tggagcagga cagcatcatc gaggccctgc tgccgctgag catggaggcc
     2221 aagatcaagc aggagatcac agagggggaa ctcaaggcct tcatgacagc gcccggcggc
     2281 aagaagacgc ccgccatgcg caaggtgctc tacccctgcc gcttctgcaa ccaggtgttt
     2341 gccttctcgg gggtcttgcg tgcccacgtg cgctcccacc tgggcatctc gccataccag
     2401 tgcaacatct gcgactacat cgccgccgac aaggccgcgc tcatccgcca cctgcgcacg
     2461 cacagtgggg agcggcccta catttgcaag atctgccact accccttcac tgtcaaagcc
     2521 aactgcgagc ggcacctgcg caagaagcac ctcaaggcca cccgcaagga tatcgagaag
     2581 aacatcgagt atgtgagtag cagcgcggcc gagctggtgg acgccttctg cgccccggac
     2641 accgtgtgcc ggctgtgcgg cgaggacctc aagcactatc gtgccctgcg catccacatg
     2701 cgcacgcact gcggccgcgg cctgggcggg ggccacaagg gccgcaagcc cttcgagtgc
     2761 aaggagtgca gcgccgcgtt cgcggccaag cgcaactgca tccaccacat cctcaagcag
     2821 cacctgcacg tgcccgagca ggacatcgag agctacgtgc tggccgccga cggcctgggc
     2881 cccgcagagg cgccggccgc tgaggcgtcg gggcgcgggg aggacagtgg ctgcgctgcc
     2941 cttggtgact gcaagcccct cactgccttc ctggaacccc agaacggctt tcttcacagg
     3001 ggccccaccc agcctccacc tccccatgtc tcgatcaagt tggagcccgc cagtagcttt
     3061 gcggtggact tcaatgagcc cctggacttc tcgcagaagg gcctggccct ggtccaagtg
     3121 aagcaggaaa acatctcctt tctgagccct tcttccctgg tcccctatga ctgctccatg
     3181 gagcccatcg acctgtccat ccccaagaac ttcaggaaag gggacaagga tttggccact
     3241 cccagcgaag ccaagaagcc tgaggaggag gcggggagca gcgagcagcc ctctccctgc
     3301 ccagcacccg gcccttctct tcctgtaact ttggggccca gcggaatcct ggaaagcccc
     3361 atggcccctg ctccggcggc caccccggaa cccccagcac agcccctgca gggccctgtt
     3421 cagctggcgg tcccaatcta ctcctcagcc ctggtcagca gccctccact cgtgggcagc
     3481 tcagccctcc tgagtggcac agccttgctg cgtccactgc ggcccaagcc cccgctgctt
     3541 ttgccaaagc cccccgtgac agaagagctg cccccgctgg cctccattgc ccagatcatc
     3601 tcatctgtat cctcggcccc caccctgctg aaaaccaagg tggcggaccc agggcccgca
     3661 agcactggca gtaacaccac ggcttcagac agcttaggag gttctgtccc caaagccgcc
     3721 accaccgcca cccccgctgc caccaccagc ccaaaagagt ctagtgagcc tcccgctcca
     3781 gccagcagcc cagaggctgc ctctcccacc gagcagggcc cagcgggcac gtcgaagaag
     3841 aggggccgga aaagggggat gaggagccga ccccgcgcca acagcggcgg ggtggacctg
     3901 gactccagcg gggagtttgc cagcatcgag aagatgctgg ccaccacaga caccaacaag
     3961 ttcagtccgt ttctgcagac agcggaggac aacactcagg atgaggtggc cggagcccct
     4021 gccgaccacc atgggcccag tgatgaagag cagggcagtc ccccagaaga caagctgctg
     4081 agggccaagc ggaactcgta caccaactgc ctgcagaaga tcacctgtcc ccactgtccc
     4141 cgggttttcc cttgggccag ctccctacag aggcacatgc tcacacacac tggtcagaaa
     4201 cccttccctt gtcaaaaatg cgatgccttc ttttctacca aatctaactg tgaacgccac
     4261 cagttgcgca aacacggagt taccacctgt tccctgagaa gaaacgggct tatcccccag
     4321 tcaaaagaga gtgatgttgg atcccatgat agcacagaca gtcagtcgga tgcggagact
     4381 gcagccgccg cgggcgaagt gctagacctc acctcacggg acagagagca gccgtcggag
     4441 ggcgccactg agctccgcca ggtcgcaggg gatgcgcctg tggagcaggc cacggcggaa
     4501 acggcctcgc cggtgcaccg ggaagagcac gggcgtgggg agagccatga gccggaggag
     4561 gagcatggca ctgaggagag cactggggac gccgacggcg cggaagagga cgcgtcgagc
     4621 aaccagagcc tggacctgga cttcgccacc aagctcatgg acttcaagct ggcggagggc
     4681 gacggcgagg caggcgccgg gggcgcggcc tcgcaggagc agaagctcgc ctgcgacacc
     4741 tgtgggaaga gcttcaagtt cctgggcacc ctgagccgcc accggaaggc gcacggccgc
     4801 caggagccca aggacgagaa gggagatggc gccagcactg cagaggaggg gccccagccc
     4861 gcccctgaac aggaggagaa gccccccgag accccggcag aggtggtgga gtcggccccg
     4921 ggtgccgggg aggccccggc ggaaaagctc gcggaggaga cggagggccc ctccgacggg
     4981 gagagcgcgg ccgagaaaag gtcctcagag aagagcgacg atgacaagaa accaaagaca
     5041 gactccccca aaagcgtggc cagcaaggca gacaagagga agaaggtctg cagcgtgtgc
     5101 aacaagcggt tctggtcgct gcaggacctg acccggcaca tgcgctccca cacaggggaa
     5161 aggccataca aatgtcagac ctgcgagcga accttcacct tgaagcacag cctggttcgc
     5221 caccagcgga tccaccagaa agccaggcat gccaaacacc acgggaagga cagcgacaag
     5281 gaagagcggg gtgaggagga cagcgagaat gagtccaccc acagcggcaa caacgccgtc
     5341 tcagagaacg aggctgagct ggctcccaat gccagcaacc acatggctgt cacccggagc
     5401 cggaaggagg gcttggccag tgccaccaag gactgcagcc acagggagga gaaggtcacg
     5461 gcagggtggc cgtctgagcc tggccagggt gaccttaacc cagagagccc ggcggccctg
     5521 gggcaggacc tgctggagcc gcgcagcaag aggcctgccc acccaatcct ggccacagct
     5581 gatggcgcct cccagctcgt ggggatggag tgacagcctc agtccccctc agcacagaca
     5641 aaagccagca gagcaaagcg tctatacttc atggggtttc ctcagtgccc tttggctgtt
     5701 gaggagtgag agagagagag agagagagag agagagagag agagagagac aagcaggagc
     5761 gtggctgctc gctcagtgcc atagccttac cgcagcctgc gcgggaggcc acagcccgtg
     5821 ccgattccag tgccttaact acttaccgga tccctccata ttatcatggg tgttgtattt
     5881 ttccaaaatg acttcttaaa caaaacaaat attataatga attgtctgga gaggacctct
     5941 tcatttgagc attagcgtta ttttgtattg gtgtgtgtga gcttgttctt gtgaatctgt
     6001 gatagcaccg tttgttctgt gagctggaaa cagaaggaaa aaacataccc ttgggtaccc
     6061 atagccaata actggaagaa aatgatgtga atttcatgta aatgaccaga ggaaagatgg
     6121 ataagatgat aatttcttaa atagacattt tccttttttc tttgtgcttc atggtggagc
     6181 tgtcatctgg tccttggtat tacaggatgt ggttgatgaa ggtttccaat atggtttcag
     6241 gccaaaacca gggaagattc tagcttcagc ctcatgtcca tttccagtct gtcagcatta
     6301 gacatggtca ctgttcaagt ttcaagacat ccattcttaa ctatagagaa gagttactcc
     6361 cctggcgtct taacctatgg aaaacatgca cggataggat atatttgatt gcctcctctt
     6421 ccctttcagt atatgtatta ttaatattat tattattatt attattatta gttcatcagt
     6481 ttgctgttct ctgcagtgag cagaatcaaa tgggcaatat ttgtcctggg agacctgtgc
     6541 cgcacccagg tccccgtgtt aacgtgtgcc tgcggttgtg gttggcaccc tcgggtggta
     6601 gctcttctac tgtaatgaga caagcctttc ttctgtcact gcagaattta gaaggggccg
     6661 tgagcagtct tcccaagcat ggtccaggag cagctcagag agggtggagt gaggatgcat
     6721 gcatccaggg aacaggcatc aagaagccag ggccgtgcct ggagcactgc agagatgact
     6781 ttggagaaag caaagcagtg acccagtgac caggcacatt actcgtgagc gaggtattcc
     6841 cagtcttcct gctaagccta atccaagcct tacccagctg tgctactgtc atttgcaaag
     6901 caaggaaata ctactactgg taataaaact acacatgcaa gatgtcagat aagaaatagg
     6961 tttatattta ccttcctgcg atgtggggtt ggtgcttgaa gataaatgtg ctgtttctag
     7021 tttcttaaat agcccacacc cctggatgca aaaaggcagg gttattttta cccatgagca
     7081 tcctgtgcag gcaatagact tccctcactg tctccgcctg cagggaggag aatgtacccc
     7141 actgcacctg agctcctggt ccctcagcca agacctcagg ggtccccagc cagcctgctg
     7201 ctggggaccc ctgtgcttgc tgcagtgtat ggagcctctt gccttcccct ggggaggcac
     7261 ccctgtaccc cagcttcctt cccctggcct tttctggccc cagtgctcct cctttacata
     7321 gacttgttca cacagaaacg tgcacgcccc cttttctccg ccacttcacc agtttctgaa
     7381 atccaacctc ccagacttca caggaagata gatattcttg agataatgaa aagtgatatc
     7441 ttcgcatacg aaaggaaaaa aggttgaggt atatatgatt tttaactgta ttaggggtgt
     7501 atgaaccagt ttaaaaacga ggttttattt actgtagaga tgaatgcaaa tcagaaccaa
     7561 tgatcccttg gcctacttag ttaaaaccag ttcatacatc ccttagggtt tttattatta
     7621 ttattattat tattacagtt gttattgttg tttttgttgt tattattatt tggggtttct
     7681 tgtgtttttt ctttgcgact ctccacacta aacttgcaat attgtgggga gaagctgtga
     7741 ctaaactcta cgctgcggtg agatgtagca gtaatcagct cccagcgacg tgtgtagctg
     7801 gggctgccgc tcgcaataat cactattgat ttaaagcttt acttagcctt gatctgtacc
     7861 ctcgtagtca ataaggtctt gccacatttt attagtgagg tggagaaacg tattatttgt
     7921 ttgttgtttt tgcccttccc ccacccccca atattaaact gtgaaatttg tgatttgttt
     7981 aaactctggg tgaatcatag cttagtttgc atgtccagct aatttgtttc tatacatttt
     8041 gtttgattct ctttctcctt ctctcagggc ttttacaaaa aaatatatat atatggatct
     8101 tctgaaaagt tttttgaggt gcaagttttt tctctttttt tttttttttt ttttttctca
     8161 ttgattaatg gacatgatgc tgagattcaa tcactacatg aaacacctgg ctgtgaaaac
     8221 aaaacaaccc agagggctgt gttccaagca gcgctgggga agctacgtaa cagtcggatg
     8281 ccagttttgg aagattcacc atgcgttctg accctctgtt cgtctctttc ctctcctctt
     8341 tcttcaagaa ggaaattgat cctagtgatt tcagcccatg cattaaacag gaaacaataa
     8401 taaatttgta gaattcatat ttttctaaag ggaacttaaa aactgctgct acatgttatg
     8461 tacaaaactg gtttatgcca catgaacaga gaatcacaag tttggttttg gtactttttg
     8521 ttcctctttg tattcagttg tatagaactt ccaaattcag aatgagaaga aagctgttct
     8581 gtatcaaacc atttaagcaa taaatgttat attttaaaag ctgca
//
LOCUS       NM_001003702            2609 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens Rho guanine nucleotide exchange factor 35 (ARHGEF35),
            transcript variant 1, mRNA.
ACCESSION   NM_001003702
VERSION     NM_001003702.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2609)
  AUTHORS   Dougherty ML, Underwood JG, Nelson BJ, Tseng E, Munson KM, Penn O,
            Nowakowski TJ, Pollen AA and Eichler EE.
  TITLE     Transcriptional fates of human-specific segmental duplications in
            brain
  JOURNAL   Genome Res 28 (10), 1566-1576 (2018)
   PUBMED   30228200
REFERENCE   2  (bases 1 to 2609)
  AUTHORS   Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L, Brenton
            M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard A, Glueck
            D, McGavran L, Berry R, Pollack J and Sikela JM.
  TITLE     Lineage-specific gene duplication and loss in human and great ape
            evolution
  JOURNAL   PLoS Biol 2 (7), E207 (2004)
   PUBMED   15252450
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK125680.1, BC136878.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378115.3/ ENSP00000367355.3
            RefSeq Select criteria      :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004889.1.
            On Nov 22, 2019 this sequence version replaced NM_001003702.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2609
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q35"
     gene            1..2609
                     /gene="ARHGEF35"
                     /gene_synonym="ARHGEF5L"
                     /note="Rho guanine nucleotide exchange factor 35"
                     /db_xref="GeneID:445328"
                     /db_xref="HGNC:HGNC:33846"
     misc_feature    144..146
                     /gene="ARHGEF35"
                     /gene_synonym="ARHGEF5L"
                     /note="upstream in-frame stop codon"
     CDS             309..1763
                     /gene="ARHGEF35"
                     /gene_synonym="ARHGEF5L"
                     /note="rho guanine nucleotide exchange factor 5-like
                     protein; Rho guanine nucleotide exchange factor (GEF) 35"
                     /codon_start=1
                     /product="rho guanine nucleotide exchange factor 35"
                     /protein_id="NP_001003702.2"
                     /db_xref="CCDS:CCDS34770.1"
                     /db_xref="GeneID:445328"
                     /db_xref="HGNC:HGNC:33846"
                     /translation="MEAEEAQHGASPPISAIEEFSIIPEAPMRSSQVSALGLEAQEDED
                     PSYKWREEHRLSATQQSELRDVCDYAIETMPSFPKEGSADVEPNQESLVAEACDTPEHW
                     EAVPQSLAGRQARTLAPPELWACPIQSEHLDMAPFSSDLGSEEEEVEFWPGLTSLTLGS
                     GQAEEEEETSSDNSGQTRYYSPCEEHPAETNQNEGAESGTIRQGEELPSEELQESQGLL
                     HPQEVQVLEEQGQQEAGFRGEGTLREDVCADGLLGEEQMIEQVNDEKGEQKQKQEQVQD
                     VMLGRQGERMGLTGEPEGLNDGEWEQEDMERKAQGQGGPEQGEERKRELQVPEENRADS
                     QDEKSQTFLGKSEEVTGKQEDHGIKEKGVPVSGQEAKEPESWDGGRLGAVGRARSREEE
                     NEHHGPSMPALIAPEDSPHCDLFPGASYLVTQIPGTQTESRAEELSPAALSPLLEPIRC
                     SHQPISLLGSFLTEESPDKEKLLSVL"
     misc_feature    723..1562
                     /gene="ARHGEF35"
                     /gene_synonym="ARHGEF5L"
                     /note="propagated from UniProtKB/Swiss-Prot (A5YM69.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    858..860
                     /gene="ARHGEF35"
                     /gene_synonym="ARHGEF5L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (A5YM69.1); phosphorylation site"
     regulatory      2583..2588
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGEF35"
                     /gene_synonym="ARHGEF5L"
                     /note="hexamer: AATAAA"
     polyA_site      2609
                     /gene="ARHGEF35"
                     /gene_synonym="ARHGEF5L"
                     /note="major polyA site"
ORIGIN
        1 tgcgcccggg ctcccctctc cgccggcccg gcacttccca gctctgacgc gggagcttct
       61 ttcacaccaa tggggctcgc gcgcggaggg gccctgcccc tcctccggga aggtgtgtcc
      121 ctgtttcctc acctgaaact tcctaggaga acccgatccc tccctcccgt cgggcggcca
      181 ggggcgggcc gcgggtgggg cggccgggcc tgcgctgggg acggctctgg ggactgcggc
      241 cggcgccggg acctggaggg gacgctgggg ccgaagcagc atgtgacacc gaccaggatt
      301 cagccctgat ggaggctgag gaggcccagc atggagcctc tcctcccatc tctgccatag
      361 aggaattcag cattatccct gaggctccca tgaggagcag ccaggtctct gccttggggc
      421 ttgaagctca agaagatgag gacccatcct ataagtggag agaggaacac agactctcag
      481 caactcagca gagtgagtta agggatgtgt gtgactatgc gattgagacg atgccctctt
      541 ttcccaagga aggttctgca gatgtggagc ccaatcagga aagccttgtg gctgaggcct
      601 gtgacactcc ggaacactgg gaggcagtac cccagagcct agcaggccga caagcaagga
      661 ctctagctcc cccagagctc tgggcctgcc ccattcagag tgagcatcta gacatggccc
      721 cattttccag tgacctggga agcgaagaag aggaggtgga attttggcca ggacttactt
      781 ctttgacatt gggatctgga caggcagaag aagaagagga aacctcttca gataactctg
      841 gtcagaccag atattattct ccctgcgaag agcatcctgc agagaccaac cagaatgaag
      901 gcgctgaaag tgggactatc aggcaggggg aagagctgcc atctgaggag ctgcaggaaa
      961 gtcaagggct cttgcatccc caggaggtcc aagttctgga ggagcaggga cagcaggaag
     1021 caggatttcg gggggaagga actctgaggg aggatgtttg tgccgatggg ctattagggg
     1081 aggaacagat gatagagcag gttaatgatg aaaagggaga acagaagcaa aaacaggaac
     1141 aggtacaaga tgtgatgctt gggagacaag gagaaagaat ggggctcact ggggagccag
     1201 agggtctgaa tgacggtgag tgggagcagg aggatatgga gaggaaggct cagggtcagg
     1261 gaggtccaga acagggagaa gagaggaaga gggagctgca ggtgccagaa gagaacaggg
     1321 cggactctca ggacgaaaag agtcaaacct ttttgggaaa atcagaggaa gtaactggaa
     1381 agcaagaaga tcatggtata aaggagaaag gggtcccagt cagcgggcag gaggcgaaag
     1441 agccagagag ttgggatggg ggcaggctgg gggcagtggg aagagcgagg agcagggaag
     1501 aggagaatga gcatcatggg ccttcaatgc ccgctctgat agcccctgag gactctcctc
     1561 actgtgacct gtttccaggt gcctcatatc tcgtgactca gattcccggg actcagacag
     1621 agtccagggc tgaggaactg tcccccgcag ctctgtctcc cttgctagag cccatcagat
     1681 gctctcacca gcccatttct ctactgggct cctttttgac tgaggagtca cctgacaagg
     1741 aaaaacttct atcagtactt tgatatgtca cagtttcatg tttatccagt tcaatgtatt
     1801 tttaaatttt tccttgagac ttctttgact gatagattat tgtgaagtgt gtttttaaat
     1861 ttccaaatgt ttagggattt tcatatcttt cttatgctga tttccaattg gattccctac
     1921 aatgatttct ggttttcatc tgctctggat gattactatc tcttttaaat ttgttgtggc
     1981 gagttttagg gcctaggaca gctctatctt gccatgtgtt tcgtcagcac tcaaaaaaaa
     2041 tatgtgtatt ctgctgttac tgtgtggaat attctgtaaa tgccaaatag attcttttgg
     2101 ttaatggcat tttgagttgt tttatattct tgttgatttt cttttttttc ctctttttaa
     2161 aaacatgaaa tgcttcacaa aattttgtgt aatctatatt caagaaccat tttaatcttg
     2221 ttggcatcat tctgatttta gaaagtgctg ccaaagccaa cactccttgc tgattttctg
     2281 tctagttcta tcaattattg aaaaaggcat gaggaaattt ctaactataa ttgtggattc
     2341 atctatatct cctttcagtt ttcttttttt aaaaaaaatc aatgaaaatt tattaaatta
     2401 agcataaagt tactttcaca tttatctaca accacagtga atacagttct tggcatgaag
     2461 acaccacaac ctttagaatt taaagcctcc tcacctgcaa gattacatat ataaaactcc
     2521 cactattgtt tctctaagag tggattagtt caccaagtta aaagttatat gatctagaat
     2581 ataataaaat ggaaatgatt tactcataa
//
LOCUS       NM_001003703             526 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens ATP synthase peripheral stalk subunit F6 (ATP5PF),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001003703
VERSION     NM_001003703.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 526)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 526)
  AUTHORS   Fasci D, van Ingen H, Scheltema RA and Heck AJR.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   3  (bases 1 to 526)
  AUTHORS   Bai B, Xie B, Pan Z, Shan L, Zhao J and Zhu H.
  TITLE     Identification of candidate genes and long non-coding RNAs
            associated with the effect of ATP5J in colorectal cancer
  JOURNAL   Int J Oncol 52 (4), 1129-1138 (2018)
   PUBMED   29484395
  REMARK    GeneRIF: AKT2 and XIST expression was identified as a potential
            biomarker participating in the effect of ATP5J in colorectal cancer
REFERENCE   4  (bases 1 to 526)
  AUTHORS   Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET,
            Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK, Ulbrich
            A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS, Rensvold
            JW, Taylor RW, Prokisch H, Kim JP, Coon JJ and Pagliarini DJ.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   5  (bases 1 to 526)
  AUTHORS   Kawai M, Osanai T, Tanaka M, Magota K, Tomita H and Okumura K.
  TITLE     Mitochondrial Inhibitory Factor Protein 1 Functions as an Endogenous
            Inhibitor for Coupling Factor 6
  JOURNAL   J Cell Biochem 117 (7), 1680-1687 (2016)
   PUBMED   26659871
  REMARK    GeneRIF: CF6-induced increase in apoptotic cells was blocked by
            immature or mature IF1, being accompanied by protein kinase B (PKB)
            phosphorylation. IF1 antagonizes the pro-apoptotic action of CF6 by
            relief of intracellular acidification and resultant phosphorylation
            of PKB.
REFERENCE   6  (bases 1 to 526)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH,
            Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   7  (bases 1 to 526)
  AUTHORS   Hochstrasser DF, Frutiger S, Paquet N, Bairoch A, Ravier F, Pasquali
            C, Sanchez JC, Tissot JD, Bjellqvist B, Vargas R et al.
  TITLE     Human liver protein map: a reference database established by
            microsequencing and gel comparison
  JOURNAL   Electrophoresis 13 (12), 992-1001 (1992)
   PUBMED   1286669
REFERENCE   8  (bases 1 to 526)
  AUTHORS   Higuti T, Tsurumi C, Kawamura Y, Tsujita H, Osaka F, Yoshihara Y,
            Tani I, Tanaka K and Ichihara A.
  TITLE     Molecular cloning of cDNA for the import precursor of human coupling
            factor 6 of H(+)-ATP synthase in mitochondria
  JOURNAL   Biochem Biophys Res Commun 178 (2), 793-799 (1991)
   PUBMED   1830479
REFERENCE   9  (bases 1 to 526)
  AUTHORS   Javed AA, Ogata K and Sanadi DR.
  TITLE     Human mitochondrial ATP synthase: cloning cDNA for the
            nuclear-encoded precursor of coupling factor 6
  JOURNAL   Gene 97 (2), 307-310 (1991)
   PUBMED   1825642
REFERENCE   10  (bases 1 to 526)
  AUTHORS   Boyer,P.D., Cross,R.L. and Momsen,W.
  TITLE     A new concept for energy coupling in oxidative phosphorylation based
            on a molecular explanation of the oxygen exchange reactions
  JOURNAL   Proc Natl Acad Sci U S A 70 (10), 2837-2839 (1973)
   PUBMED   4517936
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BM772791.1, DA684306.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148093,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000284971.8/ ENSP00000284971.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ268216.1, BC001178.1,
            BC066310.1 and AI085837.1.
            On Aug 11, 2020 this sequence version replaced NM_001003703.1.
            Summary: Mitochondrial ATP synthase catalyzes ATP synthesis,
            utilizing an electrochemical gradient of protons across the inner
            membrane during oxidative phosphorylation. It is composed of two
            linked multi-subunit complexes: the soluble catalytic core, F1, and
            the membrane-spanning component, Fo, which comprises the proton
            channel. The F1 complex consists of 5 different subunits (alpha,
            beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3
            beta, and a single representative of the other 3. The Fo complex
            has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene
            encodes the F6 subunit of the Fo complex. The F6 subunit is
            required for F1 and Fo interactions. Alternatively spliced
            transcript variants encoding different isoforms have been
            identified for this gene. This gene has 1 or more pseudogenes.
            [provided by RefSeq, Feb 2016].
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2, 3, 4, 6 and 7 encode the same isoform
            (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..526
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q21.3"
     gene            1..526
                     /gene="ATP5PF"
                     /gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
                     /note="ATP synthase peripheral stalk subunit F6"
                     /db_xref="GeneID:522"
                     /db_xref="HGNC:HGNC:847"
                     /db_xref="MIM:603152"
     CDS             60..386
                     /gene="ATP5PF"
                     /gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
                     /EC_number="3.6.1.14"
                     /note="isoform a precursor is encoded by transcript variant
                     1; ATP synthase, H+ transporting, mitochondrial F0 complex,
                     subunit F6; coupling factor 6; mitochondrial ATP synthase,
                     subunit F6; mitochondrial ATPase coupling factor 6;
                     mitochondrial ATP synthase, coupling factor 6; ATP
                     synthase-coupling factor 6, mitochondrial;
                     proliferation-inducing protein 36; ATPase subunit F6; ATP
                     synthase, H+ transporting, mitochondrial Fo complex subunit
                     F6; ATP synthase subunit h"
                     /codon_start=1
                     /product="ATP synthase-coupling factor 6, mitochondrial
                     isoform a precursor"
                     /protein_id="NP_001003703.1"
                     /db_xref="CCDS:CCDS13574.1"
                     /db_xref="GeneID:522"
                     /db_xref="HGNC:HGNC:847"
                     /db_xref="MIM:603152"
                     /translation="MILQRLFRFSSVIRSAVSVHLRRNIGVTAVAFNKELDPIQKLFVD
                     KIREYKSKRQTSGGPVDASSEYQQELERELFKLKQMFGNADMNTFPTFKFEDPKFEVIE
                     KPQA"
     transit_peptide 60..155
                     /gene="ATP5PF"
                     /gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
     mat_peptide     156..383
                     /gene="ATP5PF"
                     /gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
                     /product="ATP synthase-coupling factor 6, mitochondrial
                     isoform a"
     misc_feature    180..182
                     /gene="ATP5PF"
                     /gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P18859.1); acetylation site"
     misc_feature    195..197
                     /gene="ATP5PF"
                     /gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P18859.1); acetylation site"
     misc_feature    252..254
                     /gene="ATP5PF"
                     /gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P18859.1); phosphorylation site"
     misc_feature    294..296
                     /gene="ATP5PF"
                     /gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P97450; propagated from
                     UniProtKB/Swiss-Prot (P18859.1); acetylation site"
     misc_feature    339..341
                     /gene="ATP5PF"
                     /gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P97450; propagated from
                     UniProtKB/Swiss-Prot (P18859.1); acetylation site"
     misc_feature    354..356
                     /gene="ATP5PF"
                     /gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P18859.1); acetylation site"
     misc_feature    372..374
                     /gene="ATP5PF"
                     /gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P18859.1); acetylation site"
     regulatory      454..459
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP5PF"
                     /gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
                     /note="hexamer: AATAAA"
     polyA_site      481
                     /gene="ATP5PF"
                     /gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
                     /note="major polyA site"
     regulatory      504..509
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP5PF"
                     /gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
                     /note="hexamer: AATAAA"
     polyA_site      526
                     /gene="ATP5PF"
                     /gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
                     /note="major polyA site"
ORIGIN
        1 agagcggagg tggtggcggc ggaggctttg gcagctcggg actgagtgca agaatcagca
       61 tgattcttca gaggctcttc aggttctcct ctgtcattcg gtcagccgtc tcagtccatt
      121 tgcggaggaa cattggtgtt acagcagtgg catttaataa ggaacttgat cctatacaga
      181 aactctttgt ggacaagatt agagaataca aatctaagcg acagacatct ggaggacctg
      241 ttgatgctag ttcagagtat cagcaagagc tggagaggga gctttttaag ctcaagcaaa
      301 tgtttggtaa tgcagacatg aatacatttc ccaccttcaa atttgaagat cccaaatttg
      361 aagtcatcga aaaaccccag gcctgaagaa ataaagtaaa attaatctgg taatttgtca
      421 cggattagtt gtacaactag ttagaagttt cagaataaac atgcatttca taactgtcaa
      481 atgttctttt aattctgagt ccaaataaat tatttggtga tgttga
//
LOCUS       NM_001003722            3302 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens GLE1 RNA export mediator (GLE1), transcript variant 1,
            mRNA.
ACCESSION   NM_001003722
VERSION     NM_001003722.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3302)
  AUTHORS   Mason AC and Wente SR.
  TITLE     Functions of Gle1 are governed by two distinct modes of
            self-association
  JOURNAL   J Biol Chem 295 (49), 16813-16825 (2020)
   PUBMED   32981894
  REMARK    GeneRIF: Functions of Gle1 are governed by two distinct modes of
            self-association.
REFERENCE   2  (bases 1 to 3302)
  AUTHORS   Yates TM, Campeau PM, Ghoumid J, Kibaek M, Larsen MJ, Smol T, Albaba
            S, Hertz JM and Balasubramanian M.
  TITLE     Biallelic variants in GLE1 with survival beyond neonatal period
  JOURNAL   Clin Genet 98 (6), 622-625 (2020)
   PUBMED   32954510
  REMARK    GeneRIF: Biallelic variants in GLE1 with survival beyond neonatal
            period.
REFERENCE   3  (bases 1 to 3302)
  AUTHORS   Sharma M and Wente SR.
  TITLE     Nucleocytoplasmic shuttling of Gle1 impacts DDX1 at transcription
            termination sites
  JOURNAL   Mol Biol Cell 31 (21), 2398-2408 (2020)
   PUBMED   32755435
  REMARK    GeneRIF: Nucleocytoplasmic shuttling of Gle1 impacts DDX1 at
            transcription termination sites.
REFERENCE   4  (bases 1 to 3302)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 3302)
  AUTHORS   Cerino M, Di Meglio C, Albertini F, Audic F, Riccardi F, Boulay C,
            Philip N, Bartoli M, Levy N, Krahn M and Chabrol B.
  TITLE     Extension of the phenotypic spectrum of GLE1-related disorders to a
            mild congenital form resembling congenital myopathy
  JOURNAL   Mol Genet Genomic Med 8 (8), e1277 (2020)
   PUBMED   32537934
  REMARK    GeneRIF: Extension of the phenotypic spectrum of GLE1-related
            disorders to a mild congenital form resembling congenital myopathy.
REFERENCE   6  (bases 1 to 3302)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   7  (bases 1 to 3302)
  AUTHORS   Rayala HJ, Kendirgi F, Barry DM, Majerus PW and Wente SR.
  TITLE     The mRNA export factor human Gle1 interacts with the nuclear pore
            complex protein Nup155
  JOURNAL   Mol Cell Proteomics 3 (2), 145-155 (2004)
   PUBMED   14645504
REFERENCE   8  (bases 1 to 3302)
  AUTHORS   Kendirgi F, Barry DM, Griffis ER, Powers MA and Wente SR.
  TITLE     An essential role for hGle1 nucleocytoplasmic shuttling in mRNA
            export
  JOURNAL   J Cell Biol 160 (7), 1029-1040 (2003)
   PUBMED   12668658
REFERENCE   9  (bases 1 to 3302)
  AUTHORS   Makela-Bengs P, Jarvinen N, Vuopala K, Suomalainen A, Ignatius J,
            Sipila M, Herva R, Palotie A and Peltonen L.
  TITLE     Assignment of the disease locus for lethal congenital contracture
            syndrome to a restricted region of chromosome 9q34, by genome scan
            using five affected individuals
  JOURNAL   Am J Hum Genet 63 (2), 506-516 (1998)
   PUBMED   9683599
REFERENCE   10  (bases 1 to 3302)
  AUTHORS   Watkins JL, Murphy R, Emtage JL and Wente SR.
  TITLE     The human homologue of Saccharomyces cerevisiae Gle1p is required
            for poly(A)+ RNA export
  JOURNAL   Proc Natl Acad Sci U S A 95 (12), 6779-6784 (1998)
   PUBMED   9618489
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK222854.1, BC030012.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000309971.9/ ENSP00000308622.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM786801.1, AF058922.1,
            AL117584.1 and AA806769.1.
            On Dec 4, 2019 this sequence version replaced NM_001003722.1.
            Summary: This gene encodes a predicted 75-kDa polypeptide with high
            sequence and structure homology to yeast Gle1p, which is nuclear
            protein with a leucine-rich nuclear export sequence essential for
            poly(A)+RNA export. Inhibition of human GLE1L by microinjection of
            antibodies against GLE1L in HeLa cells resulted in inhibition of
            poly(A)+RNA export. Immunoflourescence studies show that GLE1L is
            localized at the nuclear pore complexes. This localization suggests
            that GLE1L may act at a terminal step in the export of mature RNA
            messages to the cytoplasm. Two alternatively spliced transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3302
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..3302
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="GLE1 RNA export mediator"
                     /db_xref="GeneID:2733"
                     /db_xref="HGNC:HGNC:4315"
                     /db_xref="MIM:603371"
     misc_feature    79..81
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="upstream in-frame stop codon"
     CDS             88..2184
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     GLE1-like, RNA export mediator; nucleoporin GLE1; GLE1-like
                     protein; GLE1 RNA export mediator homolog; mRNA export
                     factor GLE1"
                     /codon_start=1
                     /product="mRNA export factor GLE1 isoform 1"
                     /protein_id="NP_001003722.1"
                     /db_xref="CCDS:CCDS35154.1"
                     /db_xref="GeneID:2733"
                     /db_xref="HGNC:HGNC:4315"
                     /db_xref="MIM:603371"
                     /translation="MPSEGRCWETLKALRSSDKGRLCYYRDWLLRREDVLEECMSLPKL
                     SSYSGWVVEHVLPHMQENQPLSETSPSSTSASALDQPSFVPKSPDASSAFSPASPATPN
                     GTKGKDESQHTESMVLQSSRGIKVEGCVRMYELVHRMKGTEGLRLWQEEQERKVQALSE
                     MASEQLKRFDEWKELKQHKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLRE
                     AEQQRVKQAEQERLRKEEGQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQT
                     RGNQLCSLISGIIRASSESSYPTAESQAEAERALREMRDLLMNLGQEITRACEDKRRQD
                     EEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDASMQ
                     CVLTFEGLTNSKDSQAKKIKMDLQKAATIPVSQISTIAGSKLKEIFDKIHSLLSGKPVQ
                     SGGRSVSVTLNPQGLDFVQYKLAEKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVG
                     DLILAHLHKKCPYSVPFYPTFKEGMALEDYQRMLGYQVKDSKVEQQDNFLKRMSGMIRL
                     YAAIIQLRWPYGNRQEIHPHGLNHGWRWLAQILNMEPLSDVTATLLFDFLEVCGNALMK
                     QYQVQFWKMLILIKEDYFPRIEAITSSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSS
                     FWRS"
     misc_feature    88..174
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53GS7.2);
                     Region: Interaction with NUP155"
     misc_feature    208..210
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q53GS7.2); phosphorylation site"
     misc_feature    274..450
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53GS7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    349..351
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q53GS7.2);
                     phosphorylation site"
     misc_feature    382..384
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q53GS7.2); phosphorylation site"
     misc_feature    1081..1212
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53GS7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1417..1536
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53GS7.2);
                     Region: Mediates the shuttling between the nucleus and the
                     cytoplasm"
     misc_feature    2053..2181
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53GS7.2);
                     Region: Interaction with NUP42.
                     /evidence=ECO:0000269|PubMed:16000379"
     regulatory      3279..3284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="hexamer: AATAAA"
     polyA_site      3302
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="major polyA site"
ORIGIN
        1 agaagcctgt gtggccttcc cggcggctga ttcgagggct tgtttggtca gaaggggggc
       61 gtcagagaag ctgcccctta gccaaccatg ccgtctgagg gtcgctgctg ggagaccttg
      121 aaggccctac gcagttccga caaaggtcgc ctttgctact accgcgactg gctgctgcgg
      181 cgcgaggatg ttttagaaga atgtatgtct cttcccaagc tatcttctta ttctggatgg
      241 gtggtagagc acgtcctacc ccatatgcag gagaaccaac ctctgtctga gacttcgcca
      301 tcctctacgt cagcttcagc cctagatcaa ccctcatttg ttcccaaatc tcctgacgca
      361 agctctgcct tttccccagc ctcccctgca acaccaaatg gaaccaaggg caaagatgag
      421 tcccagcaca cagaatctat ggtacttcag tcctcacggg ggatcaaagt ggaaggctgc
      481 gtccgaatgt acgaactggt acacagaatg aaaggaacag agggcctgag gctatggcag
      541 gaggagcagg agaggaaggt gcaagccctc tcggagatgg catctgaaca actgaagcgg
      601 tttgatgaat ggaaggaact gaagcagcat aaagaattcc aggacttgcg ggaagtaatg
      661 gagaagagct ccagagaagc cttgggacac caagagaagc taaaagctga gcaccgtcac
      721 agagcaaaga ttctcaacct gaagctgcgg gaagcagagc agcagcgcgt gaagcaagca
      781 gaacaggagc ggcttcggaa ggaagaaggc cagatccgcc tgcgggccct ctatgctctg
      841 caggaggaga tgctgcagct cagccagcag ctggatgcct ctgagcagca caaagccctg
      901 cttaaggtcg acctggctgc cttccagacc cgaggcaacc agctgtgcag cctcatctca
      961 gggatcatcc gggcctcttc agagagcagc tatcccacag cagagagtca agctgaggct
     1021 gagcgagctc tgcgggaaat gcgggacctc ctgatgaact tggggcagga gatcaccaga
     1081 gcctgcgaag acaagaggag gcaggatgaa gaagaggccc aggtaaagct gcaagaggca
     1141 cagatgcagc agggaccaga ggcccacaaa gagcccccag ctcccagcca gggcccagga
     1201 gggaaacaga atgaagacct ccaggtgaag gtacaagaca ttacaatgca gtggtaccag
     1261 cagctgcagg atgcttccat gcagtgtgtg ttgacctttg agggcctgac caacagcaag
     1321 gacagtcagg ccaaaaagat aaagatggac ctccagaagg ctgctaccat cccagtgagc
     1381 caaatctcta ccattgcagg ctcaaaactg aaggagatct ttgacaagat ccacagcctg
     1441 ctctctggaa aacctgttca atctggtggg cgctctgtgt ctgtcacact taacccacag
     1501 gggctggact ttgttcaata caaactggca gagaaatttg tgaaacaagg cgaggaggaa
     1561 gtggcctctc accatgaagc agcattcccc attgcagttg tggcatccgg gatctgggag
     1621 ctccacccca gagtggggga cctcattctt gctcatctac ataagaagtg tccttactct
     1681 gttcctttct atcccacttt caaggaggga atggctttgg aagactatca gaggatgctt
     1741 ggttaccaag taaaggattc caaagtggag cagcaagaca actttctaaa acgcatgtca
     1801 gggatgatcc gtctctacgc tgctatcatc cagctccggt ggccatatgg aaaccgacag
     1861 gagattcacc ctcatggctt aaatcatgga tggcgctggt tggcacagat cttaaacatg
     1921 gagcccttgt cagatgtgac agccaccctc ctctttgact tcctggaggt gtgtgggaat
     1981 gccctcatga agcaatacca ggttcagttc tggaagatgc taattctcat caaagaggac
     2041 tactttccca gaattgaagc tatcacaagc tcaggacaga tgggctcctt catacgcctc
     2101 aagcagttct tggagaaatg tttgcaacac aaggacattc ctgtccccaa gggctttctg
     2161 acttcctcct tctggcgctc ctgatgtcac tccatcaccc accatcaccg ctgctgcaaa
     2221 gaggcaataa taaaggaact gaagacagct gtatttggga gaagtcatgt cagattcaga
     2281 aatttgccat tatgtatttt tatgtattta tgccttgtga ctaggagagg agattttcat
     2341 gggtcacaaa attcttggag gtcccttagt agatttggta gttccttaag agatccacgt
     2401 gataaaataa atggagttgg cctttcttgt tttttgcaaa agtgataaaa ggtctttagc
     2461 acttggtctc ctcccttgtc tctagtgtct ttcagaaagt tggcaatacc ttaacaaatg
     2521 cactctgagc tggagggagc ccaccatttg cacccaccta cccaccctca cccctgttca
     2581 gatgaatttc cagaaagagc taaggctcat aaggttccct tttaagtatt atttaatagt
     2641 tgaggccaga tacttacatg caagtctggg ttatggttgt tttgcctttc tcagcttgtg
     2701 aagtcattct aaagctagag gaagtatgtg atatacacat ggactaaggc tcaggtgaca
     2761 ctatggctag attaacatct gggattagga ctggaaacac atgtcatttt gaactaaggg
     2821 aaactctttg tcatcctaat ttggaatttg gtccctggat ggctagggat ccatgaacca
     2881 ggcaggtacc ttttttgttt ttgttttgtt ttgtttcttt tctgtttgaa ttaagatggg
     2941 ctaagatggg gcttgcaaca ttaaacatga gctgagcatc cataagcatt gaattgggat
     3001 taaataaaga tgttgggcag gaactgaaca ctgctaatat gatgataaat atgcctgact
     3061 aaagccacta cagaaatcca gagattggct gttaaaattt gttttgtgga aagactaatt
     3121 ctctttgata ctgcagaggc agtggccatg gatctgttcc tctgtgctaa atgtcttgtg
     3181 gcagggtgtg tttgtggggg agtgttcact ggtactcttg agtggcctga agtgacccat
     3241 tctatgaatt gttaattaag gtgccaaaaa aaattaataa taaagcttgg ttttttgaaa
     3301 aa
//
LOCUS       NM_001003745            2650 bp    mRNA    linear   PRI 22-JAN-2023
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily A member 3
            (OR10A3), mRNA.
ACCESSION   NM_001003745
VERSION     NM_001003745.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2650)
  AUTHORS   Kang W, Choi D, Son B, Park S and Park T.
  TITLE     Activation of OR10A3 by Suberic Acid Promotes Collagen Synthesis in
            UVB-Irradiated Dermal Fibroblasts via the cAMP-Akt Pathway
  JOURNAL   Cells 11 (24), 3961 (2022)
   PUBMED   36552724
  REMARK    GeneRIF: Activation of OR10A3 by Suberic Acid Promotes Collagen
            Synthesis in UVB-Irradiated Dermal Fibroblasts via the cAMP-Akt
            Pathway. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2650)
  AUTHORS   Hirota T, Takahashi A, Kubo M, Tsunoda T, Tomita K, Sakashita M,
            Yamada T, Fujieda S, Tanaka S, Doi S, Miyatake A, Enomoto T,
            Nishiyama C, Nakano N, Maeda K, Okumura K, Ogawa H, Ikeda S, Noguchi
            E, Sakamoto T, Hizawa N, Ebe K, Saeki H, Sasaki T, Ebihara T, Amagai
            M, Takeuchi S, Furue M, Nakamura Y and Tamari M.
  TITLE     Genome-wide association study identifies eight new susceptibility
            loci for atopic dermatitis in the Japanese population
  JOURNAL   Nat Genet 44 (11), 1222-1226 (2012)
   PUBMED   23042114
REFERENCE   3  (bases 1 to 2650)
  AUTHORS   Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd
            C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E,
            Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K,
            Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC,
            Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES and
            Sakaki Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
REFERENCE   4  (bases 1 to 2650)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   5  (bases 1 to 2650)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
REFERENCE   6  (bases 1 to 2650)
  AUTHORS   Parmentier M, Libert F, Schurmans S, Schiffmann S, Lefort A,
            Eggerickx D, Ledent C, Mollereau C, Gerard C, Perret J et al.
  TITLE     Expression of members of the putative olfactory receptor gene family
            in mammalian germ cells
  JOURNAL   Nature 355 (6359), 453-455 (1992)
   PUBMED   1370859
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642047.1/ ENSP00000493303.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC044810.7.
            On Aug 5, 2020 this sequence version replaced NM_001003745.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2650
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..2650
                     /gene="OR10A3"
                     /gene_synonym="HSHTPCRX12; HTPCRX12"
                     /note="olfactory receptor family 10 subfamily A member 3"
                     /db_xref="GeneID:26496"
                     /db_xref="HGNC:HGNC:8162"
     misc_feature    283..285
                     /gene="OR10A3"
                     /gene_synonym="HSHTPCRX12; HTPCRX12"
                     /note="upstream in-frame stop codon"
     CDS             301..1245
                     /gene="OR10A3"
                     /gene_synonym="HSHTPCRX12; HTPCRX12"
                     /note="olfactory receptor OR11-97"
                     /codon_start=1
                     /product="olfactory receptor 10A3"
                     /protein_id="NP_001003745.1"
                     /db_xref="CCDS:CCDS31421.1"
                     /db_xref="GeneID:26496"
                     /db_xref="HGNC:HGNC:8162"
                     /translation="MKRQNQSCVVEFILLGFSNFPELQVQLFGVFLVIYVVTLMGNAII
                     TVIISLNQSLHVPMYLFLLNLSVVEVSFSAVITPEMLVVLSTEKTMISFVGCFAQMYFI
                     LLFGGTECFLLGAMAYDRFAAICHPLNYPVIMNRGVFMKLVIFSWISGIMVATVQTTWV
                     FSFPFCGPNEINHLFCETPPVLELVCADTFLFEIYAFTGTILIVMVPFLLILLSYIRVL
                     FAILKMPSTTGRQKAFSTCASHLTSVTLFYGTANMTYLQPKSGYSPETKKLISLAYTLL
                     TPLLNPLIYSLRNSEMKRTLIKLWRRKVILHTF"
     misc_feature    313..315
                     /gene="OR10A3"
                     /gene_synonym="HSHTPCRX12; HTPCRX12"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P58181.1); glycosylation site"
     misc_feature    376..438
                     /gene="OR10A3"
                     /gene_synonym="HSHTPCRX12; HTPCRX12"
                     /note="propagated from UniProtKB/Swiss-Prot (P58181.1);
                     transmembrane region"
     misc_feature    463..525
                     /gene="OR10A3"
                     /gene_synonym="HSHTPCRX12; HTPCRX12"
                     /note="propagated from UniProtKB/Swiss-Prot (P58181.1);
                     transmembrane region"
     misc_feature    598..660
                     /gene="OR10A3"
                     /gene_synonym="HSHTPCRX12; HTPCRX12"
                     /note="propagated from UniProtKB/Swiss-Prot (P58181.1);
                     transmembrane region"
     misc_feature    718..780
                     /gene="OR10A3"
                     /gene_synonym="HSHTPCRX12; HTPCRX12"
                     /note="propagated from UniProtKB/Swiss-Prot (P58181.1);
                     transmembrane region"
     misc_feature    892..951
                     /gene="OR10A3"
                     /gene_synonym="HSHTPCRX12; HTPCRX12"
                     /note="propagated from UniProtKB/Swiss-Prot (P58181.1);
                     transmembrane region"
     misc_feature    1012..1074
                     /gene="OR10A3"
                     /gene_synonym="HSHTPCRX12; HTPCRX12"
                     /note="propagated from UniProtKB/Swiss-Prot (P58181.1);
                     transmembrane region"
     misc_feature    1114..1176
                     /gene="OR10A3"
                     /gene_synonym="HSHTPCRX12; HTPCRX12"
                     /note="propagated from UniProtKB/Swiss-Prot (P58181.1);
                     transmembrane region"
ORIGIN
        1 cagggacagt gaatagataa ggatctgaag attctgcttt ggtacttgtt ggtgggtttg
       61 ccttctgtag ttatcctcac tgataattgg agatacttat caagtgataa ctcaatgctc
      121 agattcacta ttacaagtca ttggccattc ttcaaaagtg ccaacctgaa gttctgtcaa
      181 aatgagcttg tcattacatc tgctgtcaag aattccagac ttgaactcac agctatggga
      241 ttacgacttc atactcgata taccaggtcc ataaaaacaa tataagtttc aactactgaa
      301 atgaaaagac aaaatcaaag ctgtgtggtt gaattcatcc tcctgggctt ttctaacttt
      361 cctgagctcc aggtgcagct ctttggggtt ttcctagtta tttatgtggt gaccctgatg
      421 ggaaatgcca tcattacagt catcatctcc ttaaaccaga gcctccacgt tcccatgtac
      481 ctgttcctcc tgaacctatc tgtggtggag gtgagtttca gtgcagtcat tacgcctgaa
      541 atgctggtgg tgctctctac tgagaaaact atgatttctt ttgtgggctg ttttgcacag
      601 atgtatttca tccttctttt tggtgggact gaatgttttc tcctgggagc gatggcttat
      661 gaccgatttg ctgcaatttg ccatcctctg aactacccag tgattatgaa cagaggggtt
      721 tttatgaaat tagtaatatt ctcatggatc tcagggatca tggtggctac tgtgcagacc
      781 acttgggtat ttagttttcc attttgtggc cccaatgaaa ttaatcatct cttctgtgag
      841 actcccccgg tactagagct tgtgtgtgca gacaccttct tatttgaaat ctatgccttc
      901 acaggcacca ttttgattgt tatggttcct ttcttgttga tcctcttgtc ttacattcga
      961 gttctgtttg ccatcctgaa gatgccatca actactggga gacaaaaggc cttttccacc
     1021 tgtgcctctc acctcacatc tgtgaccctg ttctatggca cagccaatat gacttattta
     1081 caacccaaat ctggctactc acccgaaacc aagaaactga tctcattggc ttacacgttg
     1141 cttacccctc tgctcaatcc gctcatctat agcttacgaa acagtgagat gaagaggact
     1201 ttgataaaac tatggcgaag aaaagtgatt ttacacacat tctgattgtg ttgagaagct
     1261 gagtaagatt tggccactgc ctgagtgaac tctatttaaa tttaataaag ggtgaaaaca
     1321 gactgcattt tttgtatgac tatgtaagtt tgttgagttt ttttattgga aaacgtatct
     1381 caataaagaa ctgctgtcac ttgtttttag tagatacata tgttctcata acatgacaca
     1441 acagtttatt catccatttc tctattatga acatccaagt agctactgga ttactgtcat
     1501 tttttttttt tttttttttg agatggagtt tcgctccagc ccaggctgga gtgcaatggc
     1561 acgatctggg ctcactgcaa cctccacctc ctgggttcta gcaattctcc tgcctcagcc
     1621 tcccgagtag ttgggattac aggcatgcgc caccacaccc agctaatttt tgtattttta
     1681 gtagagacgg ggtttcacca tgctggtcag gctggtctca aactcccaac cttagatgat
     1741 ccgcccacct cggcctccca aagcgctgtg attacaggtg tgagccacca cgcctggcct
     1801 ggattactgt cattaagaca gtgcttcaat aaatgccttg ttccatatgc tcatatgtac
     1861 tgatgtcatt atacctgtgt gatagatttg ctacagtgcg gctgatagga tgaggagtat
     1921 ctgtgtttac aaattttatt agctattgca gaattacttt tcaaaatgat tatagttctt
     1981 cagactggcc tgaaggctca ctgtgctttg gtaacagggt agagcttcaa gagaccaaca
     2041 aataaggtga tgatgtttct atttttggat tgaaaatttg ttccacggat gagtaaaaaa
     2101 aaagtgcatc tattttgggg ggccaaaaat ggttctactt catgacctta cacaaattat
     2161 aatcccaaac tggatttctc ttggtatctt tccaaatatt tatccaatgt tggtgaccag
     2221 agagctacat gggaagtttc tcaaattctc atttgataat atcagtatct ttttcattta
     2281 cagaccactg atttagaaac ttttatgaag tttccttttg tagtctgtga caggaaagta
     2341 aaatcttgga accccaaact cactatgcca aaagaaaagt taagcttgga aactggctca
     2401 ggcaaaaaaa ttgcctttcc ttttgttcct aaatagatag ctacaagata tccggtcacc
     2461 tatcttccca ggttacctcc ctcaattgtt cttaaaaata attggaataa aactgatact
     2521 gtgatgttaa gattagatat acatattctg ctaaatgaag gggtgtcatt ataatttgtg
     2581 tatattattt gggaataggc aatacatata tatatctgtg tgtctattta aactggtttt
     2641 aggtttataa
//
LOCUS       NM_001003750             933 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily I member 2
            (OR8I2), mRNA.
ACCESSION   NM_001003750
VERSION     NM_001003750.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 933)
  AUTHORS   Demirkan A, van Duijn CM, Ugocsai P, Isaacs A, Pramstaller PP,
            Liebisch G, Wilson JF, Johansson A, Rudan I, Aulchenko YS,
            Kirichenko AV, Janssens AC, Jansen RC, Gnewuch C, Domingues FS,
            Pattaro C, Wild SH, Jonasson I, Polasek O, Zorkoltseva IV, Hofman A,
            Karssen LC, Struchalin M, Floyd J, Igl W, Biloglav Z, Broer L,
            Pfeufer A, Pichler I, Campbell S, Zaboli G, Kolcic I, Rivadeneira F,
            Huffman J, Hastie ND, Uitterlinden A, Franke L, Franklin CS, Vitart
            V, Nelson CP, Preuss M, Bis JC, O'Donnell CJ, Franceschini N,
            Witteman JC, Axenovich T, Oostra BA, Meitinger T, Hicks AA, Hayward
            C, Wright AF, Gyllensten U, Campbell H and Schmitz G.
  CONSRTM   DIAGRAM Consortium; CARDIoGRAM Consortium; CHARGE Consortium;
            EUROSPAN consortium
  TITLE     Genome-wide association study identifies novel loci associated with
            circulating phospho- and sphingolipid concentrations
  JOURNAL   PLoS Genet 8 (2), e1002490 (2012)
   PUBMED   22359512
REFERENCE   2  (bases 1 to 933)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 933)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC137007.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000302124.8/ ENSP00000303864.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065656.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..933
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..933
                     /gene="OR8I2"
                     /gene_synonym="OR11-170"
                     /note="olfactory receptor family 8 subfamily I member 2"
                     /db_xref="GeneID:120586"
                     /db_xref="HGNC:HGNC:15310"
     CDS             1..933
                     /gene="OR8I2"
                     /gene_synonym="OR11-170"
                     /note="olfactory receptor OR11-170"
                     /codon_start=1
                     /product="olfactory receptor 8I2"
                     /protein_id="NP_001003750.1"
                     /db_xref="CCDS:CCDS31517.1"
                     /db_xref="GeneID:120586"
                     /db_xref="HGNC:HGNC:15310"
                     /translation="MAGNNFTEVTVFILSGFANHPELQVSLFLMFLFIYLFTVLGNLGL
                     ITLIRMDSQLHTPMYFFLSNLAFIDIFYSSTVTPKALVNFQSNRRSISFVGCFVQMYFF
                     VGLVCCECFLLGSMAYNRYIAICNPLLYSVVMSQKVSNWLGVMPYVIGFTSSLISVWVI
                     SSLAFCDSSINHFFCDTTALLALSCVDTFGTEMVSFVLAGFTLLSSLLIITVTYIIIIS
                     AILRIQSAAGRQKAFSTCASHLMAVTIFYGSLIFTYLQPDNTSSLTQAQVASVFYTIVI
                     PMLNPLIYSLRNKDVKNALLRVIHRKLFP"
     misc_feature    13..15
                     /gene="OR8I2"
                     /gene_synonym="OR11-170"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N0Y5.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR8I2"
                     /gene_synonym="OR11-170"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Y5.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR8I2"
                     /gene_synonym="OR11-170"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Y5.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR8I2"
                     /gene_synonym="OR11-170"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Y5.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR8I2"
                     /gene_synonym="OR11-170"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Y5.1);
                     transmembrane region"
     misc_feature    589..648
                     /gene="OR8I2"
                     /gene_synonym="OR11-170"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Y5.1);
                     transmembrane region"
     misc_feature    709..771
                     /gene="OR8I2"
                     /gene_synonym="OR11-170"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Y5.1);
                     transmembrane region"
     misc_feature    811..873
                     /gene="OR8I2"
                     /gene_synonym="OR11-170"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Y5.1);
                     transmembrane region"
ORIGIN
        1 atggctggca acaatttcac tgaggttacc gtcttcatcc tctctggatt tgcaaatcac
       61 cctgaattac aagtcagtct tttcttgatg tttctcttca tttatctatt cactgttttg
      121 ggaaacctgg gactgatcac gttaatcaga atggattctc agcttcacac ccctatgtac
      181 tttttcctga gcaatttagc atttattgac atattttact cctctactgt aacacctaag
      241 gcattggtga atttccaatc caatcggaga tccatctcct ttgttggctg ctttgttcaa
      301 atgtactttt ttgttggatt ggtgtgttgt gagtgtttcc ttctgggatc aatggcctac
      361 aatcgctaca tagcaatctg caatccctta ctgtattcag tagtcatgtc ccaaaaagtg
      421 tccaactggc tgggagtaat gccatatgtg ataggcttca caagctcgct gatatctgtc
      481 tgggtgataa gcagtttggc gttctgtgat tccagcatca atcatttttt ttgtgacacc
      541 acagctcttt tagcactctc ctgtgtagat acattcggca cagaaatggt gagctttgtc
      601 ttagctggat tcactcttct tagctctctc cttatcatca cagtcactta tatcatcatc
      661 atctcagcca tcctgaggat ccagtcagca gcaggcaggc agaaggcctt ctccacctgc
      721 gcatcccacc tcatggctgt aactatcttt tatgggtctc tgattttcac ctatttgcaa
      781 cctgataaca catcatcgct gacccaggcg caggtggcat ctgtattcta tacgattgtc
      841 attcccatgc tgaatccact catctacagt ctgaggaaca aagatgtgaa aaatgctctt
      901 ctgagagtca tacatagaaa actttttcca tga
//
LOCUS       NM_001003760            5776 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens kelch like family member 31 (KLHL31), mRNA.
ACCESSION   NM_001003760
VERSION     NM_001003760.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5776)
  AUTHORS   Dhanoa BS, Cogliati T, Satish AG, Bruford EA and Friedman JS.
  TITLE     Update on the Kelch-like (KLHL) gene family
  JOURNAL   Hum Genomics 7 (1), 13 (2013)
   PUBMED   23676014
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5776)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   3  (bases 1 to 5776)
  AUTHORS   Yu W, Li Y, Zhou X, Deng Y, Wang Z, Yuan W, Li D, Zhu C, Zhao X, Mo
            X, Huang W, Luo N, Yan Y, Ocorr K, Bodmer R, Wang Y and Wu X.
  TITLE     A novel human BTB-kelch protein KLHL31, strongly expressed in muscle
            and heart, inhibits transcriptional activities of TRE and SRE
  JOURNAL   Mol Cells 26 (5), 443-453 (2008)
   PUBMED   18719355
  REMARK    GeneRIF: These results suggest that KLHL31 protein may act as a new
            transcriptional repressor in MAPK/JNK signaling pathway to regulate
            cellular functions.
REFERENCE   4  (bases 1 to 5776)
  AUTHORS   Wu YL and Gong Z.
  TITLE     A novel zebrafish kelchlike gene klhl and its human ortholog KLHL
            display conserved expression patterns in skeletal and cardiac
            muscles
  JOURNAL   Gene 338 (1), 75-83 (2004)
   PUBMED   15302408
REFERENCE   5  (bases 1 to 5776)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: EF633513.1, DRR138518.242042.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMN03267751, SAMN03267764
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370905.4/ ENSP00000359942.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL157773.13 and EF633513.1.
            On Nov 23, 2018 this sequence version replaced NM_001003760.4.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5776
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.1"
     gene            1..5776
                     /gene="KLHL31"
                     /gene_synonym="bA345L23.2; BKLHD6; KBTBD1; KLHL"
                     /note="kelch like family member 31"
                     /db_xref="GeneID:401265"
                     /db_xref="HGNC:HGNC:21353"
                     /db_xref="MIM:610749"
     CDS             190..2094
                     /gene="KLHL31"
                     /gene_synonym="bA345L23.2; BKLHD6; KBTBD1; KLHL"
                     /note="kelch repeat and BTB (POZ) domain containing 1;
                     kelch-like protein KLHL; BTB and kelch domain-containing
                     protein 6; kelch repeat and BTB domain-containing protein
                     1"
                     /codon_start=1
                     /product="kelch-like protein 31"
                     /protein_id="NP_001003760.2"
                     /db_xref="CCDS:CCDS34478.1"
                     /db_xref="GeneID:401265"
                     /db_xref="HGNC:HGNC:21353"
                     /db_xref="MIM:610749"
                     /translation="MAPKKKIVKKNKGDINEMTIIVEDSPLNKLNALNGLLEGGNGLSC
                     ISSELTDASYGPNLLEGLSKMRQENFLCDLVIGTKTKSFDVHKSVMASCSEYFYNILKK
                     DPSIQRVDLNDISPLGLATVIAYAYTGKLTLSLYTIGSIISAAVYLQIHTLVKMCSDFL
                     IREMSVENCMYVVNIAETYSLKNAKAAAQKFIRDNFLEFAESDQFMKLTFEQINELLID
                     DDLQLPSEIVAFQIAMKWLEFDQKRVKYAADLLSNIRFGTISAQDLVNYVQSVPRMMQD
                     ADCHRLLVDAMNYHLLPYHQNTLQSRRTRIRGGCRVLVTVGGRPGLTEKSLSRDILYRD
                     PENGWSKLTEMPAKSFNQCVAVMDGFLYVAGGEDQNDARNQAKHAVSNFCRYDPRFNTW
                     IHLASMNQKRTHFSLSVFNGLVYAAGGRNAEGSLASLECYVPSTNQWQPKTPLEVARCC
                     HASAVADGRVLVTGGYIANAYSRSVCAYDPASDSWQELPNLSTPRGWHCAVTLSDRVYV
                     MGGSQLGPRGERVDVLTVECYSPATGQWSYAAPLQVGVSTAGVSALHGRAYLVGGWNEG
                     EKKYKKCIQCFSPELNEWTEDDELPEATVGVSCCTLSMPNNVTRESRASSVSSVPVSI"
     misc_feature    193..195
                     /gene="KLHL31"
                     /gene_synonym="bA345L23.2; BKLHD6; KBTBD1; KLHL"
                     /note="N,N,N-trimethylalanine.
                     /evidence=ECO:0000250|UniProtKB:Q8BWA5; propagated from
                     UniProtKB/Swiss-Prot (Q9H511.1); methylation site"
     misc_feature    1138..1284
                     /gene="KLHL31"
                     /gene_synonym="bA345L23.2; BKLHD6; KBTBD1; KLHL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H511.1);
                     Region: Kelch 1"
     misc_feature    1285..1446
                     /gene="KLHL31"
                     /gene_synonym="bA345L23.2; BKLHD6; KBTBD1; KLHL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H511.1);
                     Region: Kelch 2"
     misc_feature    1447..1587
                     /gene="KLHL31"
                     /gene_synonym="bA345L23.2; BKLHD6; KBTBD1; KLHL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H511.1);
                     Region: Kelch 3"
     misc_feature    1591..1728
                     /gene="KLHL31"
                     /gene_synonym="bA345L23.2; BKLHD6; KBTBD1; KLHL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H511.1);
                     Region: Kelch 4"
     misc_feature    1732..1884
                     /gene="KLHL31"
                     /gene_synonym="bA345L23.2; BKLHD6; KBTBD1; KLHL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H511.1);
                     Region: Kelch 5"
     misc_feature    1888..2031
                     /gene="KLHL31"
                     /gene_synonym="bA345L23.2; BKLHD6; KBTBD1; KLHL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H511.1);
                     Region: Kelch 6"
     regulatory      5750..5755
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL31"
                     /gene_synonym="bA345L23.2; BKLHD6; KBTBD1; KLHL"
                     /note="hexamer: AATAAA"
     polyA_site      5776
                     /gene="KLHL31"
                     /gene_synonym="bA345L23.2; BKLHD6; KBTBD1; KLHL"
                     /note="major polyA site"
ORIGIN
        1 aaaaattgct gcagccgggt cttgtcaggt ggctgctggt ggctccccac cggattttcc
       61 ttctccctct ctctatctcc acagatccct tcccaagagg agtctcctgc taaaacttca
      121 tcatctcaag ttgacctgcc acttcaccca aggaggcaag ctcttgcctg taacagtgta
      181 tttgccaaca tggcacccaa aaagaagatt gtcaaaaaga acaaaggaga tatcaatgag
      241 atgactataa tcgtagaaga tagcccccta aacaaactga atgctttgaa tgggctccta
      301 gagggaggca atggccttag ctgcatttct tctgaactaa cagatgcttc ttatggcccc
      361 aacctcttgg aaggtttaag taaaatgcgg caggagaact tcctatgtga cttagtcatt
      421 ggtaccaaaa ccaaatcctt tgatgttcat aagtcagtca tggcttcatg cagtgagtat
      481 ttttacaaca tcctaaaaaa agacccgtca attcagaggg tggatctcaa tgatatctca
      541 ccactaggcc tggccactgt cattgcatat gcctacactg gaaagctcac tctctccttg
      601 tatacaatag gaagcattat ttctgctgct gtttatcttc agatccatac tcttgtaaag
      661 atgtgcagtg attttctgat acgggagatg agtgttgaga attgcatgta tgttgttaat
      721 attgctgaaa catactccct aaaaaatgca aaagcagcag cccagaaatt tattcgggat
      781 aacttccttg aatttgcaga atcggatcag tttatgaaac ttacatttga acaaattaat
      841 gaacttctta tagatgatga cttacagttg ccttctgaga tagtagcatt ccagattgca
      901 atgaaatggt tagaatttga ccaaaagaga gtaaaatacg ctgcagatct tttgagcaat
      961 attcgctttg gtaccatctc tgcacaagac ctggtcaatt atgttcaatc cgtaccaaga
     1021 atgatgcaag atgctgattg tcacagactt ctcgtagatg ctatgaacta ccacttgctt
     1081 ccatatcatc aaaacacatt gcaatctagg cgaacaagaa tccgaggtgg ctgccgagtc
     1141 ctcgtcactg ttgggggacg cccaggcctt actgagaagt cccttagcag agacatcttg
     1201 tatagagacc ctgaaaatgg atggagcaag cttacggaaa tgccagccaa aagttttaat
     1261 cagtgtgtgg ctgtgatgga tggatttctt tatgtagccg gtggtgaaga ccagaatgat
     1321 gcaagaaatc aagccaagca tgcagtcagc aatttctgca gatacgatcc ccgcttcaac
     1381 acctggatac acctggccag catgaaccag aagcgcacgc acttcagcct gagcgtgttc
     1441 aacgggctcg tgtacgccgc gggcggccgc aacgcagaag gaagcctggc ctcgctggag
     1501 tgctacgtgc cctccaccaa tcagtggcag ccgaagacgc ccctggaggt ggcgcgctgc
     1561 tgccacgcta gcgcggtcgc cgacggccgc gtgctggtga ccggaggcta catagccaac
     1621 gcctactcgc gctctgtgtg cgcctacgac ccggccagcg actcgtggca ggagctgccg
     1681 aacctcagca caccccgggg ctggcactgc gcggtcacgc tgagcgacag agtgtacgtg
     1741 atgggcggca gccagctggg gccgcgcggg gagcgcgtgg acgtgctcac cgtggagtgc
     1801 tacagccccg cgaccggcca gtggagctac gcggcgccgc tgcaggtggg agtgagcact
     1861 gcgggcgtct cggcgctgca tggccgcgcc tacctggtgg ggggctggaa cgagggcgag
     1921 aagaagtaca agaagtgcat ccagtgcttc agccccgagc tcaacgagtg gacggaggac
     1981 gacgagctac ccgaggccac tgtcggcgtg tcctgctgca ccctctcgat gcccaacaac
     2041 gtgactcggg aatcccgggc cagttcggta tcttctgtgc cagtcagtat ctgagcccag
     2101 gtagatgcag ggacgcagga agaacacgtt atttattcgt agagccacgt ggttaacctc
     2161 tgagttcgcg aaaaggaaaa tatttaacat ttactacact gattgtattg taaaatatgt
     2221 cgaggcacat gtcctgatgg ctttaaattc ctggtatggc ataatctacc tctttttttt
     2281 tttttttttt ttagcaaaat acagggcaat ggccaacaaa agaaacaatt tatttcagcg
     2341 gccactgggt ggcagacgga attcgttata ggcactctcc caaggcggca tgtttcctaa
     2401 atgtatagcg gttacaccca catttgagat tttttcctct acacgttagt acacttgagg
     2461 tttatgtaag tgatttcatg ttcaaaagtt tattttcctc tctctctttt ttctttagga
     2521 agttgaagat attcatatag attttattta tttaaaaatg gaaattgtcg atctccataa
     2581 agacttaaga tttaattctg tatttcaacg caattttccc cccatatgtg attgagtaaa
     2641 ggattttgaa agatatccca tgacaacgta ataaagctta aaacaagatc tgaccgaaaa
     2701 ggaataggga ttccacccag ggaccctaaa tttgataacc tttgtgttag cggacattcc
     2761 tcttcctcca tgcctcaggc cccagtttat tttctaccat aaaatcatgc tctcaatgaa
     2821 gtaattgata tgaatcattt aatttatagc ataaatttaa gtcatttggt tgtttcaact
     2881 agaaggattt gcattttatc ccttgtcctc tattaaagaa gaatttcaca taccctggga
     2941 gccttaccct caccctaaaa actacaccaa cctggttaaa ggcaaccttg gccctaatgt
     3001 acaccccgcg aagatcacca aataaaacta tgtccctaag gaccattagc cttaagctta
     3061 gagagcttga agtttacaca accaataaca ataattttat ttgccccaat cttttatatg
     3121 ataagaatga tagaaacatt tggaatttgt agatttggta gtaactggat gaatgggttc
     3181 tcctgttgat aaatgccatt gtttcccatt taatatggat cctcctgatt tcttaagtaa
     3241 aaatcaagca ctcatctcac gtatataaaa atatatactc attctgtcct atttttatta
     3301 atctcatctg ctccaaatga gctttggatt tataatcaaa gtgtacccac ttgatagcac
     3361 ttttcctata tgtttgccaa gttttgggga aagggaatga ctgtagtaaa tgatacatat
     3421 tttccttttt tataatttat cactttattc tttgacagtt tatttgtttt ggagaggaag
     3481 tggcctatca attatgggtt atgtgcaatt ggattttgaa aaataaaaca agctatttag
     3541 gaattgaaca tgagatatat ggaaatataa tttggttttt gttaatctca tcctctccac
     3601 cttgtgtaga taggttattg ctagttatga tatttatttc taaaatatgt tatttgaact
     3661 gtgaaaagtg gttcatatag tacactttgt ggaacaattt tatatcatta ccccgatgaa
     3721 aagttcaatc tctggatatt taatgataac actcaggtaa gggctacaaa cgctgtaaat
     3781 taagaacaag atattattaa tgtaaaagcg ctgggctgtt tccttatccc acacaaagaa
     3841 tcttttacct tggtatatgt ggatatggta tattaccttg gtgtatgtat atgtgtgtat
     3901 acgcacacac tcatacaact gagaagccta tagtatatgg ttaatttttg gagaaaaggg
     3961 tgttttattg tgggttacag atcataagtg agtgaataga tgtaattcct tgatgcacac
     4021 caatagatgt gttcccattg acatcttaga agtattgtat gaagaggagg acctagggct
     4081 tgaaatgaaa tgagaatcaa tcaattgcaa cattacatga tggaataatg agaagagata
     4141 ctgaaactag aggatttttc atctatcaaa gcttgataaa ttaggttgtg caaaaacttg
     4201 gcagtggctt tctagagatg aaactggaga catgttagtg ctggataaat catttaaaat
     4261 taccatttaa tttattttct acattgttta tctgaagact cagaaaatcc acatatttga
     4321 gcttaccaga ctcttgggtg cattgctgtt ctatcttctg cttcaacagt taggaaaata
     4381 aagaccaata tgaatttgga atgtcagaat ttctgacata acacattggc gaggagtatg
     4441 gaatgtaagg gtcggtgaaa gtttcatatc ctggaacatc ttgcattgcc aattgaaaga
     4501 cataaaagta tgcagaatca aaataatatg tgtccacttt catgtgtaag tgaaacatat
     4561 tctttacacc aactattgaa gcagttgctc ctagaaacct agtttctcca gatttcccaa
     4621 gtggaaaata tttagtatgt tttaagctta cattcaatta ctccagagtc ttaggaccca
     4681 accatatact tccttttatt ttttattaaa gaaaatgact tgttattttt gtaacggctg
     4741 agtcctgtga tcaaataaaa gcatcagttc aatatatcag ggaaattgca tgttacccag
     4801 caactgaaat aataaaattc aagctctctt tttctaaatg ggccagagac ctgatgagaa
     4861 agtctccagg aagccaaact ttaacatact ttgtccattt ttagttaggt tcttggtgcc
     4921 aagttgtcat ccctgatgca ttagttgctt tcagtgcatt gaatgaattt tatttttact
     4981 tcctatgttg taagaatggt tttgaataga aggtcagtga tggtacagat tcgtataatt
     5041 ttaaaacatg attagatggt agtgaagtgt tatgagtgag gaggtataat tgatgtcatg
     5101 aggaagtgag tactgaatgg ttctatgatt taaggtaaag cagcagttgt agtaagtgta
     5161 ttttacaaat acacatgtaa atagaggttt acctggaaat atgtacgttc taaaaggtca
     5221 attttttaat tttatttttt tgctggttat cctggccaag tgtcttcaga actcatccaa
     5281 gttacgagac gaaataaact aaaatcacct cattaatttt tttcccttag ttacaaccaa
     5341 atgaatttat gtaatctctg aatgaactac atccctattc cagccgctga tgaatatgtt
     5401 ctccagcaca aggcagcatt aaaaggaaat acttttcagt atttcttttc atgccaaaaa
     5461 acctacagaa taattttcca aacagtcctt tattcgtaat tataagaatt aaacaatcta
     5521 aaatattaaa gatttaccct ccagcacatt cactgggtaa agaccattta atttgccctc
     5581 tcagggaatt tgaaataaat tatttgtcct ggatattctt taaaaacttt ttatttattc
     5641 agcaaatttt ggcaaaaaaa tttctttctt tgcttaaaac attctggtac tatataagga
     5701 acaacaaact aaaatgtatg tagtgttatt ttgtaatctc atcactatca ataaagctgc
     5761 attcaataag acctta
//
LOCUS       NM_001003787            2166 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens STE20 related adaptor alpha (STRADA), transcript
            variant 1, mRNA.
ACCESSION   NM_001003787
VERSION     NM_001003787.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2166)
  AUTHORS   Kim M, Park J, Bouhaddou M, Kim K, Rojc A, Modak M, Soucheray M,
            McGregor MJ, O'Leary P, Wolf D, Stevenson E, Foo TK, Mitchell D,
            Herrington KA, Munoz DP, Tutuncuoglu B, Chen KH, Zheng F, Kreisberg
            JF, Diolaiti ME, Gordan JD, Coppe JP, Swaney DL, Xia B, van 't Veer
            L, Ashworth A, Ideker T and Krogan NJ.
  TITLE     A protein interaction landscape of breast cancer
  JOURNAL   Science 374 (6563), eabf3066 (2021)
   PUBMED   34591612
REFERENCE   2  (bases 1 to 2166)
  AUTHORS   Smith RHB, Khan ZM, Ung PM, Scopton AP, Silber L, Mack SM, Real AM,
            Schlessinger A and Dar AC.
  TITLE     Type II Binders Targeting the 'GLR-Out' Conformation of the
            Pseudokinase STRADalpha
  JOURNAL   Biochemistry 60 (4), 289-302 (2021)
   PUBMED   33440120
  REMARK    GeneRIF: Type II Binders Targeting the ''GLR-Out'' Conformation of
            the Pseudokinase STRADalpha.
REFERENCE   3  (bases 1 to 2166)
  AUTHORS   Alsaif HS, Khashab HYEL and Alkuraya FS.
  TITLE     Two further cases of polyhydramnios, megalencephaly, and symptomatic
            epilepsy syndrome, caused by a truncating variant in STRADA
  JOURNAL   Am J Med Genet A 185 (2), 604-607 (2021)
   PUBMED   33247513
  REMARK    GeneRIF: Two further cases of polyhydramnios, megalencephaly, and
            symptomatic epilepsy syndrome, caused by a truncating variant in
            STRADA.
REFERENCE   4  (bases 1 to 2166)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   5  (bases 1 to 2166)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 2166)
  AUTHORS   Brajenovic M, Joberty G, Kuster B, Bouwmeester T and Drewes G.
  TITLE     Comprehensive proteomic analysis of human Par protein complexes
            reveals an interconnected protein network
  JOURNAL   J Biol Chem 279 (13), 12804-12811 (2004)
   PUBMED   14676191
REFERENCE   7  (bases 1 to 2166)
  AUTHORS   Milburn CC, Boudeau J, Deak M, Alessi DR and van Aalten DM.
  TITLE     Crystal structure of MO25 alpha in complex with the C terminus of
            the pseudo kinase STE20-related adaptor
  JOURNAL   Nat Struct Mol Biol 11 (2), 193-200 (2004)
   PUBMED   14730349
REFERENCE   8  (bases 1 to 2166)
  AUTHORS   Boudeau J, Baas AF, Deak M, Morrice NA, Kieloch A, Schutkowski M,
            Prescott AR, Clevers HC and Alessi DR.
  TITLE     MO25alpha/beta interact with STRADalpha/beta enhancing their ability
            to bind, activate and localize LKB1 in the cytoplasm
  JOURNAL   EMBO J 22 (19), 5102-5114 (2003)
   PUBMED   14517248
REFERENCE   9  (bases 1 to 2166)
  AUTHORS   Baas AF, Boudeau J, Sapkota GP, Smit L, Medema R, Morrice NA, Alessi
            DR and Clevers HC.
  TITLE     Activation of the tumour suppressor kinase LKB1 by the STE20-like
            pseudokinase STRAD
  JOURNAL   EMBO J 22 (12), 3062-3072 (2003)
   PUBMED   12805220
  REMARK    GeneRIF: Identification and characterization of an LKB1-specific
            adaptor protein and substrate, STRAD. Results imply that STRAD plays
            a key role in regulating the tumor suppressor activities of LKB1.
REFERENCE   10  (bases 1 to 2166)
  AUTHORS   Scanlan MJ, Gout I, Gordon CM, Williamson B, Stockert E, Gure AO,
            Jager D, Chen YT, Mackay A, O'Hare MJ and Old LJ.
  TITLE     Humoral immunity to human breast cancer: antigen definition and
            quantitative analysis of mRNA expression
  JOURNAL   Cancer Immun 1, 4 (2001)
   PUBMED   12747765
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.671002.1,
            SRR3476690.1104067.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000336174.12/ ENSP00000336655.6
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY290821.2, BK001542.1,
            AL832407.1 and BQ682133.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001003787.3.
            Summary: The protein encoded by this gene contains a STE20-like
            kinase domain, but lacks several residues that are critical for
            catalytic activity, so it is termed a 'pseudokinase'. The protein
            forms a heterotrimeric complex with serine/threonine kinase 11
            (STK11, also known as LKB1) and the scaffolding protein calcium
            binding protein 39 (CAB39, also known as MO25). The protein
            activates STK11 leading to the phosphorylation of both proteins and
            excluding STK11 from the nucleus. The protein is necessary for
            STK11-induced G1 cell cycle arrest. A mutation in this gene has
            been shown to result in polyhydramnios, megalencephaly, and
            symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            Additional transcript variants have been described but their
            full-length nature is not known. [provided by RefSeq, Sep 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2166
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     gene            1..2166
                     /gene="STRADA"
                     /gene_synonym="LYK5; NY-BR-96; PMSE; Stlk; STRAD; STRAD
                     alpha"
                     /note="STE20 related adaptor alpha"
                     /db_xref="GeneID:92335"
                     /db_xref="HGNC:HGNC:30172"
                     /db_xref="MIM:608626"
     misc_feature    95..97
                     /gene="STRADA"
                     /gene_synonym="LYK5; NY-BR-96; PMSE; Stlk; STRAD; STRAD
                     alpha"
                     /note="upstream in-frame stop codon"
     CDS             104..1399
                     /gene="STRADA"
                     /gene_synonym="LYK5; NY-BR-96; PMSE; Stlk; STRAD; STRAD
                     alpha"
                     /note="isoform 1 is encoded by transcript variant 1;
                     STE20-like pseudokinase; STE20-related kinase adapter
                     protein alpha; protein kinase LYK5; serologically defined
                     breast cancer antigen NY-BR-96; STE20-related kinase
                     adaptor alpha"
                     /codon_start=1
                     /product="STE20-related kinase adapter protein alpha
                     isoform 1"
                     /protein_id="NP_001003787.1"
                     /db_xref="CCDS:CCDS32703.1"
                     /db_xref="GeneID:92335"
                     /db_xref="HGNC:HGNC:30172"
                     /db_xref="MIM:608626"
                     /translation="MSFLVSKPERIRRWVSEKFIVEGLRDLELFGEQPPGDTRRKTNDA
                     SSESIASFSKQEVMSSFLPEGGCYELLTVIGKGFEDLMTVNLARYKPTGEYVTVRRINL
                     EACSNEMVTFLQGELHVSKLFNHPNIVPYRATFIADNELWVVTSFMAYGSAKDLICTHF
                     MDGMNELAIAYILQGVLKALDYIHHMGYVHRSVKASHILISVDGKVYLSGLRSNLSMIS
                     HGQRQRVVHDFPKYSVKVLPWLSPEVLQQNLQGYDAKSDIYSVGITACELANGHVPFKD
                     MPATQMLLEKLNGTVPCLLDTSTIPAEELTMSPSRSVANSGLSDSLTTSTPRPSNGDSP
                     SHPYHRTFSPHFHHFVEQCLQRNPDARPSASTLLNHSFFKQIKRRASEALPELLRPVTP
                     ITNFEGSQSQDHSGIFGLVTNLEELEVDDWEF"
     misc_feature    107..109
                     /gene="STRADA"
                     /gene_synonym="LYK5; NY-BR-96; PMSE; Stlk; STRAD; STRAD
                     alpha"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7RTN6.1); phosphorylation site"
     misc_feature    239..241
                     /gene="STRADA"
                     /gene_synonym="LYK5; NY-BR-96; PMSE; Stlk; STRAD; STRAD
                     alpha"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7RTN6.1); phosphorylation site"
     misc_feature    1031..1144
                     /gene="STRADA"
                     /gene_synonym="LYK5; NY-BR-96; PMSE; Stlk; STRAD; STRAD
                     alpha"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7RTN6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1088..1090
                     /gene="STRADA"
                     /gene_synonym="LYK5; NY-BR-96; PMSE; Stlk; STRAD; STRAD
                     alpha"
                     /note="Phosphothreonine, by LKB1.
                     /evidence=ECO:0000269|PubMed:12805220; propagated from
                     UniProtKB/Swiss-Prot (Q7RTN6.1); phosphorylation site"
     misc_feature    1358..1360
                     /gene="STRADA"
                     /gene_synonym="LYK5; NY-BR-96; PMSE; Stlk; STRAD; STRAD
                     alpha"
                     /note="Phosphothreonine, by LKB1.
                     /evidence=ECO:0000269|PubMed:12805220; propagated from
                     UniProtKB/Swiss-Prot (Q7RTN6.1); phosphorylation site"
     regulatory      2137..2142
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STRADA"
                     /gene_synonym="LYK5; NY-BR-96; PMSE; Stlk; STRAD; STRAD
                     alpha"
                     /note="hexamer: ATTAAA"
     polyA_site      2163
                     /gene="STRADA"
                     /gene_synonym="LYK5; NY-BR-96; PMSE; Stlk; STRAD; STRAD
                     alpha"
                     /note="major polyA site"
ORIGIN
        1 agtaaaactg aggaggcgga gccaagacgg tcggggctgc ttgctaactc caggaacagg
       61 tttaagtttt tgaaactgaa gtaggcctac acagtaggaa ctcatgtcat ttcttgtaag
      121 taaaccagag cgaatcaggc ggtgggtctc ggaaaagttc attgttgagg gcttaagaga
      181 tttggaacta tttggagagc agcctccggg tgacactcgg agaaaaacca atgatgcgag
      241 ctcagagtca atagcatcct tctctaaaca ggaggtcatg agtagctttc tgccagaggg
      301 agggtgttac gagctgctca ctgtgatagg caaaggattt gaggacctga tgactgtgaa
      361 tctagcaagg tacaaaccaa caggagagta cgtgactgta cggaggatta acctagaagc
      421 ttgttccaat gagatggtaa cattcttgca gggcgagctg catgtctcca aactcttcaa
      481 ccatcccaat atcgtgccat atcgagccac ttttattgca gacaatgagc tgtgggttgt
      541 cacatcattc atggcatacg gttctgcaaa agatctcatc tgtacacact tcatggatgg
      601 catgaatgag ctggcgattg cttacatcct gcagggggtg ctgaaggccc tcgactacat
      661 ccaccacatg ggatatgtac acaggagtgt caaagccagc cacatcctga tctctgtgga
      721 tgggaaggtc tacctgtctg gtttgcgcag caacctcagc atgataagcc atgggcagcg
      781 gcagcgagtg gtccacgatt ttcccaagta cagtgtcaag gttctgccgt ggctcagccc
      841 cgaggtcctc cagcagaatc tccagggtta tgatgccaag tctgacatct acagtgtggg
      901 aatcacagcc tgtgaactgg ccaacggcca tgtccccttt aaggatatgc ctgccaccca
      961 gatgctgcta gagaaactga acggcacagt gccctgcctg ttggatacca gcaccatccc
     1021 cgctgaggag ctgaccatga gcccttcgcg ctcagtggcc aactctggcc tgagtgacag
     1081 cctgaccacc agcacccccc ggccctccaa cggtgactcg ccctcccacc cctaccaccg
     1141 aaccttctcc ccccacttcc accactttgt ggagcagtgc cttcagcgca acccggatgc
     1201 caggcccagt gccagcaccc tcctgaacca ctctttcttc aagcagatca agcgacgtgc
     1261 ctcagaggct ttgcccgaat tgcttcgtcc tgtcaccccc atcaccaatt ttgagggcag
     1321 ccagtctcag gaccacagtg gaatctttgg cctggtaaca aacctggaag agctggaggt
     1381 ggacgattgg gagttctgag cctctgcaaa ctgtgcgcat tctccagcca gggatgcaga
     1441 ggccacccag aggcccttcc tgagggccgg ccacattccc gccctcctgg gcagattggg
     1501 tagaaaggac attcttccag gaaagttgac tgctgactga ttgggaaaga aaatcctgga
     1561 gagacacttc actgctccaa ggcttttgag acacaaggga atctcaacaa ccagggatca
     1621 ggagggtcca aagccgacat tcccagtcct gtgagctcag gtgacctcct ccgcagaaga
     1681 gagatgctgc tctggccctg ggagctgaat tccaagccca gggtttggct ccttaaaccc
     1741 gaggaccgcc acctcttccc agtgcttgcg accagcctca ttctatttaa ctttgctctc
     1801 agatgcctca gatgctatag gtcagtgaaa gggcaagtag taagctgcct gcctcccttc
     1861 cctcagacct ctccctcata attccagaga agggcatttc tgtcttttta agcacagact
     1921 aaggctggaa cagtccatcc ttatccctct tctggcttgg gccctgacac ctaagtcttt
     1981 cccacggttt atgtgtgtgc ctcattcctt tcccaccaag aatccatctt agcgcctcct
     2041 gccagctgcc ctggtgcttt ctccaagggc catcagtgtc ttgcctagct tgagggctta
     2101 agtccttatg ctgtgttagt ttcgttgtca gaacaaatta aaattttcag agacgctgct
     2161 ggagaa
//
LOCUS       NM_001003793            8449 bp    mRNA    linear   PRI 19-FEB-2023
DEFINITION  Homo sapiens RNA binding motif single stranded interacting protein 3
            (RBMS3), transcript variant 1, mRNA.
ACCESSION   NM_001003793
VERSION     NM_001003793.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8449)
  AUTHORS   Gornicki T, Lambrinow J, Mrozowska M, Romanowicz H, Smolarz B,
            Piotrowska A, Gomulkiewicz A, Podhorska-Okolow M, Dziegiel P and
            Grzegrzolka J.
  TITLE     Expression of RBMS3 in Breast Cancer Progression
  JOURNAL   Int J Mol Sci 24 (3), 2866 (2023)
   PUBMED   36769184
  REMARK    GeneRIF: Expression of RBMS3 in Breast Cancer Progression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 8449)
  AUTHORS   Zhou Y, Liang Z, Xia Y, Li S, Liang J, Hu Z, Tang C, Zhao Q, Gong Q
            and Ouyang Y.
  TITLE     Disruption of RBMS3 suppresses PD-L1 and enhances antitumor immune
            activities and therapeutic effects of auranofin against
            triple-negative breast cancer
  JOURNAL   Chem Biol Interact 369, 110260 (2023)
   PUBMED   36414028
  REMARK    GeneRIF: Disruption of RBMS3 suppresses PD-L1 and enhances antitumor
            immune activities and therapeutic effects of auranofin against
            triple-negative breast cancer.
REFERENCE   3  (bases 1 to 8449)
  AUTHORS   Wang M, Fu X, Wang W, Zhang Y, Jiang Z, Gu Y, Chu M, Shao Y and Li
            S.
  TITLE     Comprehensive bioinformatics analysis confirms RBMS3 as the central
            candidate biological target for ovarian cancer
  JOURNAL   Med Eng Phys 110, 103883 (2022)
   PUBMED   36075788
  REMARK    GeneRIF: Comprehensive bioinformatics analysis confirms RBMS3 as the
            central candidate biological target for ovarian cancer.
REFERENCE   4  (bases 1 to 8449)
  AUTHORS   Block CJ, Mitchell AV, Wu L, Glassbrook J, Craig D, Chen W, Dyson G,
            DeGracia D, Polin L, Ratnam M, Gibson H and Wu G.
  TITLE     RNA binding protein RBMS3 is a common EMT effector that modulates
            triple-negative breast cancer progression via stabilizing PRRX1 mRNA
  JOURNAL   Oncogene 40 (46), 6430-6442 (2021)
   PUBMED   34608266
  REMARK    GeneRIF: RNA binding protein RBMS3 is a common EMT effector that
            modulates triple-negative breast cancer progression via stabilizing
            PRRX1 mRNA.
REFERENCE   5  (bases 1 to 8449)
  AUTHORS   Wang C, Wu Y, Liu Y, Pan F, Zeng H, Li X and Yu L.
  TITLE     Tumor Suppressor Effect of RBMS3 in Breast Cancer
  JOURNAL   Technol Cancer Res Treat 20, 15330338211004921 (2021)
   PUBMED   33910421
  REMARK    GeneRIF: Tumor Suppressor Effect of RBMS3 in Breast Cancer.
REFERENCE   6  (bases 1 to 8449)
  AUTHORS   Broderick P, Wang Y, Vijayakrishnan J, Matakidou A, Spitz MR, Eisen
            T, Amos CI and Houlston RS.
  TITLE     Deciphering the impact of common genetic variation on lung cancer
            risk: a genome-wide association study
  JOURNAL   Cancer Res 69 (16), 6633-6641 (2009)
   PUBMED   19654303
REFERENCE   7  (bases 1 to 8449)
  AUTHORS   Meigs JB, Manning AK, Fox CS, Florez JC, Liu C, Cupples LA and
            Dupuis J.
  TITLE     Genome-wide association with diabetes-related traits in the
            Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S16 (2007)
   PUBMED   17903298
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 8449)
  AUTHORS   Kiel DP, Demissie S, Dupuis J, Lunetta KL, Murabito JM and Karasik
            D.
  TITLE     Genome-wide association with bone mass and geometry in the
            Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S14 (2007)
   PUBMED   17903296
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 8449)
  AUTHORS   Fritz D and Stefanovic B.
  TITLE     RNA-binding protein RBMS3 is expressed in activated hepatic stellate
            cells and liver fibrosis and increases expression of transcription
            factor Prx1
  JOURNAL   J Mol Biol 371 (3), 585-595 (2007)
   PUBMED   17586524
  REMARK    GeneRIF: These results suggest that RBMS3, by binding Prx1 mRNA in a
            sequence-specific manner, controls Prx1 expression and indirectly
            collagen synthesis.
REFERENCE   10  (bases 1 to 8449)
  AUTHORS   Penkov D, Ni R, Else C, Pinol-Roma S, Ramirez F and Tanaka S.
  TITLE     Cloning of a human gene closely related to the genes coding for the
            c-myc single-strand binding proteins
  JOURNAL   Gene 243 (1-2), 27-36 (2000)
   PUBMED   10675610
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.90682.1,
            SRR1803617.233707.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000383767.7/ ENSP00000373277.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012262.15, AY236871.1,
            AK097311.1, AC097633.2 and CA448021.1.
            On May 17, 2019 this sequence version replaced NM_001003793.2.
            Summary: This gene encodes an RNA-binding protein that belongs to
            the c-myc gene single-strand binding protein family. These proteins
            are characterized by the presence of two sets of ribonucleoprotein
            consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and
            RNP2, originally described in RNA binding proteins, and required
            for DNA binding. These proteins have been implicated in such
            diverse functions as DNA replication, gene transcription, cell
            cycle progression and apoptosis. The encoded protein was isolated
            by virtue of its binding to an upstream element of the alpha2(I)
            collagen promoter. The observation that this protein localizes
            mostly in the cytoplasm suggests that it may be involved in a
            cytoplasmic function such as controlling RNA metabolism, rather
            than transcription. Multiple alternatively spliced transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Apr 2010].
            Transcript Variant: This variant (1), also known as DD23-L, encodes
            the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..8449
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.1"
     gene            1..8449
                     /gene="RBMS3"
                     /note="RNA binding motif single stranded interacting
                     protein 3"
                     /db_xref="GeneID:27303"
                     /db_xref="HGNC:HGNC:13427"
                     /db_xref="MIM:605786"
     misc_feature    228..230
                     /gene="RBMS3"
                     /note="upstream in-frame stop codon"
     CDS             612..1925
                     /gene="RBMS3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     RNA-binding protein; RNA binding motif, single stranded
                     interacting protein"
                     /codon_start=1
                     /product="RNA-binding motif, single-stranded-interacting
                     protein 3 isoform 1"
                     /protein_id="NP_001003793.1"
                     /db_xref="CCDS:CCDS33724.1"
                     /db_xref="GeneID:27303"
                     /db_xref="HGNC:HGNC:13427"
                     /db_xref="MIM:605786"
                     /translation="MGKRLDQPQMYPQYTYYYPHYLQTKQSYAPAPHPMAPPSPSTNSS
                     SNNSSNNSSGEQLSKTNLYIRGLPPGTTDQDLIKLCQPYGKIVSTKAILDKNTNQCKGY
                     GFVDFDSPAAAQKAVASLKANGVQAQMAKQQEQDPTNLYISNLPISMDEQELENMLKPF
                     GHVISTRILRDANGVSRGVGFARMESTEKCEVVIQHFNGKYLKTPPGIPAPSEPLLCKF
                     ADGGQKKRQNQSKYTQNGRPWPREGEAGMALTYDPTAAIQNGFYSSPYSIATNRMIPQT
                     SITPFIAASPVSTYQVQSTSWMPHPPYVMQPTGAVITPTMDHPMSMQPANMMGPLTQQM
                     NHLSLGTTGTIQSQDRIMILHQLLCQYMTAAAPMQGTYIPQYTPVPPTAVSIEGVVADT
                     SPQTVAPSSQDTSGQQQQIAVDTSNEHAPAYSYQQSKP"
     misc_feature    693..782
                     /gene="RBMS3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6XE24.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1806..1922
                     /gene="RBMS3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6XE24.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      6521..6526
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBMS3"
                     /note="hexamer: AATAAA"
     polyA_site      6545
                     /gene="RBMS3"
     regulatory      8433..8438
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBMS3"
                     /note="hexamer: AATGAA"
     polyA_site      8449
                     /gene="RBMS3"
                     /note="major polyA site"
ORIGIN
        1 atgtcactct gggagggaga cagcagcaac taagctgtac aaggtttttt tttttttttt
       61 ttcttccttt ttttcttttt ttttttcttt ttcccctttc tttttctttc tttctttctt
      121 tttctttctt tctttctctt tctctctctc ttttttcttt ttctttaagg tggggaaaga
      181 gacaaccaag agacaggaag ctgatctgca aggattcgga gttgtgctaa aaggactttg
      241 atttttttcc ccctttacga acgctggcaa ttgacatcac tacagacagc ctggttagag
      301 aacaaactgc ctcatcccaa gtggaccccg gcagctgggg gaagccaggc aagatctggg
      361 aaggctgtgt gtgggtgttt tttctacaga tctcactcct cgcccttttt ttttttcctt
      421 tggtgtgtgt tttttgtttt gttttgtttt ttaaaaaaat tcttgctgtg ttggaactag
      481 cgagtggtgg agtctctgaa gcctcatcag tcaccgggac tgtcaggaat agtggtttaa
      541 gaggaagctc ggcctggggc actataccct gtcatccagt tccctgcctc ggagataaag
      601 attccagcta catgggcaaa cgcctggatc agccacaaat gtacccccag tacacttact
      661 actatcctca ttatctccaa accaagcagt cctatgcacc agctccccac cccatggctc
      721 ctcccagccc cagcacaaac agcagcagca acaacagcag caacaacagc agcggggaac
      781 agttgagtaa aaccaacctg tacattcgag gcctcccacc aggcaccact gaccaggacc
      841 taatcaagct gtgccaaccg tatggaaaaa ttgtatctac aaaggcaatt cttgacaaaa
      901 acacaaatca gtgcaaaggt tatggttttg tagattttga cagtcctgca gccgcacaga
      961 aagcggtagc atctctcaag gcaaatggcg tgcaggcaca gatggctaag caacaagagc
     1021 aagacccaac aaacctatac atctcaaatc tccccatttc tatggatgag caggagcttg
     1081 agaatatgct gaaacccttt ggacatgtca tttccacaag aatactaaga gacgctaatg
     1141 gagtcagcag aggtgttggc tttgccagaa tggagtctac tgaaaaatgt gaagtggtaa
     1201 ttcaacattt taatggaaaa tatctgaaaa caccaccagg catcccagcc cccagtgagc
     1261 ctttgctgtg caaattcgct gatggaggac aaaagaagcg acagaatcaa agcaaatata
     1321 cccagaatgg gaggccttgg cccagggaag gagaggctgg catggctttg acctatgacc
     1381 ccacagctgc catacagaat ggattttatt cttcaccgta cagtattgca accaaccgca
     1441 tgattccaca gacatctatc acgccattca ttgctgcttc ccctgtctcc acataccagg
     1501 tccagagtac ttcatggatg cctcatccgc catacgttat gcaaccaaca ggtgctgtga
     1561 ttacaccaac catggaccat cccatgtcaa tgcagccagc caacatgatg ggcccactga
     1621 cacagcagat gaatcacctt tcgttgggca caacaggaac gattcaatcc caagacagga
     1681 ttatgatact ccaccagctg ttgtgtcagt atatgactgc tgctgctcct atgcaaggga
     1741 cctacattcc tcagtacacg cctgtgcctc cgacagctgt ttctattgaa ggtgttgttg
     1801 ctgatacctc tccccagaca gtggcacctt catcccagga caccagtggt cagcagcaac
     1861 agatagcagt ggacacatcc aacgaacatg cacctgcata ttcttaccaa cagtctaaac
     1921 cataaacagg actgaagaat gtctgtctga atctttgcct tgaatgaaga aacttcattg
     1981 aacaagaagt tggcttccag tttgcacaga cgtcaatgga atgcattttt ttgttgttgt
     2041 tgttgttttt tttttagtgt tataccttac ccaatgaaag caaagttttt atgtgctgtg
     2101 caaatggtct tcatgtggtc tgacaattta tttttgccat cattttttta attaaagaaa
     2161 aaatttccag aagaggaaaa aaaaactaca aaaaacaaaa cattgaaggt tgatatttta
     2221 tgtggaagaa catttgaatt gaattcagaa tttttctgaa ggtgtagata cttttttttt
     2281 ttttttaaca gaaaacctga tgtcaagagg tgggcaatag aaatggaaac aaattgtctt
     2341 cctcaataat taagctactt tctctttttc ccttcttgtt ttaatctagt gggtttttta
     2401 ttttattttt tcttagaaat atgtaggtaa ggtttatctt gaatcttaat tgccttaatt
     2461 ttaaggacgt caaaggctct cgaggcaagc tgtcaacgtc ttgttgaaaa caaaaatcaa
     2521 gaaagaattg aaatactgtg ccggctttca ctggcacaga agtttaagac tatgagtttt
     2581 tagggtgaag aaaaaactgt acagtttaaa tgaaaatgtt tttcttcatt tgaagaaaat
     2641 ttgttgataa accatggcaa ctgcaagaat tggaaaaatg ctgggacttt tcatgaactt
     2701 tgtcttaagt gttgacatga atcattctaa aaggctaaaa cattttacag taaagttatt
     2761 aaggttggtt taaaaacaac tgcattagaa ataatgcgtg tttggggggc agaatgcaga
     2821 tttttttaat ttacaaagcg tgatcgctag caaaagcatt agtgcttttt atctgcagtc
     2881 ttttttatga gctttacaaa gtttttagtc agctttgctt gtcacattgc aaaacctagc
     2941 ttaagagcat taaaaaaaaa aacttaagta gataggagct tatggtcaaa aagtgcaaaa
     3001 aaaaaaacaa aaaaaaagca atagatagag aaattgttga caatttctgt agtctttcct
     3061 agttgtgatc aaattcagcc tatggatggc ctattttata ccaaagatga agtgacaccc
     3121 tattacagtc cagaagatag aggttgtttt cgtttctttt ctttttaaaa aaaaaaaaat
     3181 ttatttgacc gacatggccg gaccagttct ttctttgttg tttgtttaaa ctaccttcca
     3241 ctggtgtttt acatagtgca aaaaaaaaaa gagggtgggg ggagttgtct ctcttttctt
     3301 taaatgtgta ttcattgata gcagaagctt gtacctgctg tgtttagcag tttcagcatg
     3361 aagagttctg gatatgaact gattcataga gccaagtggc tttaaattct gtgagctttt
     3421 ctggtttctc actagctgtc ttgaatagtg aaacctgtat tgatggccac tagtaaacca
     3481 agatgcttat ttaacaggtg gaatattctt tatatgaaat ttcagctaaa gacactttct
     3541 ggacctggtc tgaaaggtca tttgtcaaaa aagcttaggg atattctgtg aaatggtgag
     3601 tggtctcctg gaaaggtctc attgtatttg aacaatagtc ttccctctaa attacaacac
     3661 ctctgggttt tgtctttaca cctctgtctt tgtcatcacc taccatgaat agtcaccttg
     3721 gttttgcaaa tggggagggg gtatcatctt tttgcctgtt ttcactgtat ttttgtatat
     3781 tggtgttgcc gaaagaactt tttctttcag tttaattctt tgaggcatgt aggaccaata
     3841 agattgagaa ttctattggt ggaatttagg gaagtcctta aaatgctagt tgacaatcaa
     3901 ggaacagtat gatttatatc aataagaacc aaaagaatta ggtttgatca atcatttaag
     3961 ccaaggagga atacttgcat ttagaacaat gcaaaacttt gtctaaaatg aattaaattg
     4021 acccacctgt aaaatatatc tacattttta attcatgaga tgatatgtgt tcaaccttta
     4081 cagttttacc tgaaattaag gacaatggaa tagaatttgt taagtgaacc attcactaga
     4141 ttgctttctg aatgaatcct ttgaatcaaa taggtgaaac tcttttcaaa aactaagtca
     4201 gtcacaggag cctgtcttag tccaaaagaa gcagggaaat gtatttaagt gtactataaa
     4261 acagggtagg ctttttaaaa actaaaaagt tttaaaggta aatcatattc ccattaggtc
     4321 aacatgagta ataaggttga ctcatgtgaa attgtcaata ttctactatt tctgtaaact
     4381 ctggttctct tatttgcaac cccatgcact ggaagcccaa atcagagaat gactccatat
     4441 atttatggtc acattggaga caaaagtgta tccaagaaaa tgtagtgtgc gttatagaga
     4501 aattccaact ggtcacactc accattatgg tttttcatgc tttagagaaa atgctagatt
     4561 tatactgtct tttgttccat ccttcagctt cccatgcatt ataaaggtgg cacttaagtt
     4621 tttatctttg aaaagtgggc cccaaagttt tttggggtac aaaaagacat gtatgagaac
     4681 catattttct gtttctcttt ttcactctct aaactctttt tgtataaata aggattatcc
     4741 tgggcataat tcatttgaat atgaaaccaa catactttct ttcatttttg tgaaaaaata
     4801 accaaaaaca tgtattaatg tgatacaaag aaagtctcat tcacacaatc aacaatgagg
     4861 ctaagaggta gctaccatgt ggctaatgaa tgtgcctagg taacttcctg tttctattca
     4921 aaactgctgc tttatttgta cattcagaaa tatttttttc aactatgaaa tttcaatatc
     4981 aattttttaa gccagtttct gcaaaaggaa atgacctgtc atttgatgtg ttcatgtgtg
     5041 ttttgtgttt ggatagttta tatcatgcca ttctataaaa tgtatgtttt caaaccaaaa
     5101 agaaaaaaaa tagaaggaaa acaacggcac atactcaaat ttgccctgct ttgtctgttg
     5161 tcttacctaa gacttgtttt gaagagccaa gtctgggaga gaaaaaaaag catcaacagg
     5221 taagcagcat tacattgtgt ggtaataaac caaaataagt tttcaatata tacagacaac
     5281 agaattcaaa tttaatcaac aaaatatatt gtagtgattt gtttgtttgt ttgtttgaga
     5341 cggagtctcg ctctgtcgcc catcctaact aggactataa tctttttttt tttctttaag
     5401 ttgaagttaa ttttctgtgc attctggtcc accagatttt caagcattta tttggatgtt
     5461 tccatttttc cttttgactt taatagccaa gacttagctt aaacatcagg aaacaaacta
     5521 aagccacaat ccaaatgaga gaaacactgt ctcgtctaaa ctctagtttc atggtcagtg
     5581 caacagtgag ttttctttta ataatggtat ggtattgtca agggaggcaa agtgttcatg
     5641 gtaacttgga gctccccaat acatggccat gtcttctaaa gacaacgtaa tgagcccaag
     5701 tgaactgaag gtcatactgg caggtgctga tgacagtttg tccttgaatg ctgacatgtc
     5761 ttgaatattg caaatgtcat aatactcttt taaaacagtc ctctacctga ctctagtttt
     5821 gcgaggatta gtttgtttcc ttggtagatt tcaacatttc agaatgttac ctccaaattt
     5881 cacttgaatt acttcctcct gtgaccttag cagatctgtc acatttgaaa gcatatgact
     5941 cacttccacc cccttctaat gaaaaactgc atggtgttaa aagcactctc attagaaata
     6001 taaggctgag aactgaagaa ggctgtttaa agcaggaatt tcactttatt ttactatgcc
     6061 taaaaataca tctttggacc ccttgcaaag tgctttaaaa gtactttcaa tttatgcatg
     6121 actccaaaaa agtaattttt ttttcccaaa aaaacctctt tatttaaata attgggatat
     6181 ttgctaaata cctatttttt tttacagtgg cctaaaaccc ctattaatga aaagtgaaat
     6241 ttgatttaat taggactctt gcagtcatct tcacgactga ggagaagttt caataggctg
     6301 tctagacatt atgatgttaa taggagatta aaatacattt ggcaattcat tttcattctt
     6361 aatttgagtg catgaaccac tgcagatgag ctgataagca gaaattctca agtgggtttc
     6421 actaataaat gtttttttat atgatttgaa atcaagtaaa gggacaatgt ttatgtacgt
     6481 gtataacaac attcagcaca tttgaggaat cacacactat aataaagctt aaacctgtca
     6541 tagaaccttg atctatatta ctttgtcttc agtaaaaagt gaaggatgag attttgtctt
     6601 tcatgttatt gtagctggca tgcttcaaaa ttttgagctt actgggactg acagcctctc
     6661 acttcaatct gagggattga cagaatttaa acaggctcat tgattctgta cactctaccc
     6721 ttcctgtggc aagtgataat gggatttcat taatgaatca atttgtttta caaatgacat
     6781 ccactgtggc attggaagac agttgggtct gactcaagtt taacatttct taccaaacat
     6841 tcttaagtat gaaattggtc ctttaatcca aatgctcttg gtcatggctg tcctttgcgg
     6901 attacatagc attcaggaaa gtacaaaaac taaacactaa atccccaact ggccccaaag
     6961 accttttatg atgtgagaga caagagttca ccccagatta atttctttta tcattggctt
     7021 tatactctaa catatagata ctctctatag caaaaaaggg atgaatggct ttcaatattc
     7081 atttctgttt atttttgtga gggaaaataa tatatcaaga aaattttctt ccacttagaa
     7141 agctttaaag ctgaagtaga ggtgcagtca agcttggatc tgcaggaaga accactaggc
     7201 cactgagtca tacttgagct tttcttacta ctgccccaat ttctaaattg tgcataaata
     7261 caatcactct caatttttga agggctaatt atctactttg tgggtgtgtt ttgttttttc
     7321 ttttcagcgt gtagggcttg ggctctgttt ccttttatta gcatgtcacc tgagggtgga
     7381 acaaacaatt ggaaataaaa tttgattatt ttatttctta taaagtatta atttcttaag
     7441 ggggtttgaa atcattggta aaattaatat cagtacatta tatgtcataa attttgatta
     7501 tctataatgt cttttcttat ctaccacaaa taattgagag ttggctaaat tcttgcagaa
     7561 tatatgggaa aaaaatcata gcaaagaatt cagcttccct caaaagaaag ctatttttgt
     7621 ttccttcact ccactaaatt tgaaccagta gcacggatca acacgacttc tgcaatgaga
     7681 gtataacggt agctcttggt acagtcatat tcatattttt aaatctttct ttgaccaaaa
     7741 ctattgcatt gttttcatta cattttgact gcgttactta ttaaggccga atgactttga
     7801 cacccccgtg gattattttt atgatcacat caaatttaaa caatgtccaa agtgtaactt
     7861 taatgttata ttttgtttca aaccctctgg tctaagatta ttgagaaaga tgttttttcc
     7921 tcctccctca aatatgttat ctcttcatat ataaaaaaat aagttattcc atgcttttca
     7981 ggaactgtaa aaattatttc aaaaagatat ttgaaaaagt tttctctatt ctggacacaa
     8041 atgcttccat ttatttcaaa agaagaagaa gaaaaatgga atcttaattt aaaaaaatat
     8101 atgtagtagt atctgctatg agatattcag tctctataaa aaaaaaaagg gacacagctt
     8161 cttttaaaac ccttgtttca gtccatattc aacttcatgg aacttctgaa acatcattca
     8221 attttgaact ttatttaaga gcatttttgt actgctgtct ctgactgtca tggaaagttc
     8281 tgtaattcta aggtgtttct ggttttattt ttaatttctt catctgtacc acagtcaaat
     8341 tagcaaccat ctcccccatc ccttgggctt tctgtagatc agtggatgtt aggtttaaac
     8401 ttctgttttc tttgatgaag ctttcaataa aaaatgaaaa taaaatcaa
//
LOCUS       NM_001003795            3551 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens GTF2I repeat domain containing 2B (GTF2IRD2B),
            transcript variant 1, mRNA.
ACCESSION   NM_001003795
VERSION     NM_001003795.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3551)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3551)
  AUTHORS   Dougherty ML, Underwood JG, Nelson BJ, Tseng E, Munson KM, Penn O,
            Nowakowski TJ, Pollen AA and Eichler EE.
  TITLE     Transcriptional fates of human-specific segmental duplications in
            brain
  JOURNAL   Genome Res 28 (10), 1566-1576 (2018)
   PUBMED   30228200
REFERENCE   3  (bases 1 to 3551)
  AUTHORS   Gunbin KV and Ruvinsky A.
  TITLE     Evolution of general transcription factors
  JOURNAL   J Mol Evol 76 (1-2), 28-47 (2013)
   PUBMED   23229069
REFERENCE   4  (bases 1 to 3551)
  AUTHORS   Hinsley TA, Cunliffe P, Tipney HJ, Brass A and Tassabehji M.
  TITLE     Comparison of TFII-I gene family members deleted in Williams-Beuren
            syndrome
  JOURNAL   Protein Sci 13 (10), 2588-2599 (2004)
   PUBMED   15388857
REFERENCE   5  (bases 1 to 3551)
  AUTHORS   Tipney HJ, Hinsley TA, Brass A, Metcalfe K, Donnai D and Tassabehji
            M.
  TITLE     Isolation and characterisation of GTF2IRD2, a novel fusion gene and
            member of the TFII-I family of transcription factors, deleted in
            Williams-Beuren syndrome
  JOURNAL   Eur J Hum Genet 12 (7), 551-560 (2004)
   PUBMED   15100712
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY312850.1, BC136849.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000472837.7/ ENSP00000480524.1
            RefSeq Select criteria      :: based on expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY312850.1 and BX647624.1.
            On May 17, 2019 this sequence version replaced NM_001003795.2.
            Summary: This gene encodes a glycosylated phosphoprotein with a
            leucine zipper motif, two helix-loop-helix motifs (I repeats) that
            are similar to domains found in the TFII-I family of transcription
            factors, one CHARLIE8 transposable element-like sequence, and a BED
            zinc finger. This gene lies within a region that is deleted in
            Williams-Beuren syndrome. Alternatively spliced variants which
            encode different protein isoforms have been described; however, not
            all variants have been fully characterized. [provided by RefSeq,
            Jul 2008].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3551
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..3551
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /note="GTF2I repeat domain containing 2B"
                     /db_xref="GeneID:389524"
                     /db_xref="HGNC:HGNC:33125"
                     /db_xref="MIM:608900"
     CDS             182..3031
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     general transcription factor II-I repeat domain-containing
                     protein 2B; general transcription factor 2 I repeat
                     domain-containing 2 beta; GTF2IRD2 beta; transcription
                     factor GTF2IRD2-beta; GTF2I repeat domain-containing
                     protein 2B; General transcription factor II-I repeat
                     domain-containing protein 2A; GTF2I repeat
                     domain-containing protein 2A; Transcription factor
                     GTF2IRD2-alpha"
                     /codon_start=1
                     /product="general transcription factor II-I repeat
                     domain-containing protein 2B isoform 1"
                     /protein_id="NP_001003795.1"
                     /db_xref="CCDS:CCDS34659.1"
                     /db_xref="GeneID:389524"
                     /db_xref="HGNC:HGNC:33125"
                     /db_xref="MIM:608900"
                     /translation="MAQVAVSTLPVEEESSSETRMVVTFLVSALESMCKELAKSKAEVA
                     CIAVYETDVFVVGTERGCAFVNARTDFQKDFAKYCVAEGLCEVKPPCPVNGMQVHSGET
                     EILRKAVEDYFCFCYGKALGTTVMVPVPYEKMLRDQSAVVVQGLPEGVAFQHPENYDLA
                     TLKWILENKAGISFIINRPFLGPESQLGGPGMVTDAERSIVSPSESCGPINVKTEPMED
                     SGISLKAEAVSVKKESEDPNYYQYNMQGSHPSSTSNEVIEMELPMEDSTPLVPSEEPNE
                     DPEAEVKIEGNTNSSSVTNSAAGVEDLNIVQVTVPDNEKERLSSIEKIKQLREQVNDLF
                     SRKFGEAIGVDFPVKVPYRKITFNPGCVVIDGMPPGVVFKAPGYLEISSMRRILEAAEF
                     IKFTVIRPLPGLELSNVGKRKIDQEGRVFQEKWERAYFFVEVQNIPTCLICKQSMSVSK
                     EYNLRRHYQTNHSKHYDQYTERMRDEKLHELKKGLRKYLLGSSDTECPEQKQVFANPSP
                     TQKSPVQPVEDLAGNLWEKLREKIRSFVAYSIAIDEITDINNTTQLAIFIRGVDENFDV
                     SEELLDTVPMTGTKSGNEIFLRVEKSLKKFCINWSRLVSVASTGTPAMVDANNGLVTKL
                     KSRVATFCKGAELKSICCIIHPESLCAQKLKMDHVMDVVVKSVNWICSRGLNHSEFTTL
                     LYELDSQYGSLLYYTEIKWLSRGLVLKRFFESLEEIDSFMSSRGKPLPQLSSIDWIRDL
                     AFLVDMTMHLNALNISLQGHSQIVTQMYDLIRAFLAKLCLWETHLTRNNLAHFPTLKLV
                     SRNESDGLNYIPKIAELKTEFQKRLSDFKLYESELTLFSSPFSTKIDSVHEELQMEVID
                     LQCNTVLKTKYDKVGIPEFYKYLWGSYPKYKHHCAKILSMFGSTYICEQLFSIMKLSKT
                     KYCSQLKDSQWDSVLHIAT"
     misc_feature    473..757
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6EKJ0.1);
                     Region: GTF2I-like 1"
     misc_feature    1148..1432
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6EKJ0.1);
                     Region: GTF2I-like 2"
     regulatory      3535..3540
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /note="hexamer: AAGAAA"
     polyA_site      3551
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /note="major polyA site"
ORIGIN
        1 agaaagagaa aaaggagggc gagtggcgag caggggcctc ggccgccacc cacacgcccc
       61 gaagcgtgct cgtcccccgc gcggggctcc cggccgccgc cctcggccat cggctgctcc
      121 ccggtggccc aggcctcgga ctccgcggcc ggcccggcgc ggcccagcgc cctcagggat
      181 catggcccag gtagcagtgt ccaccctgcc tgttgaagaa gagtcctcct cagagaccag
      241 gatggtggtg acattcctcg tgtctgccct cgaatccatg tgtaaagaac tggccaagtc
      301 caaggcagaa gtggcctgca tcgcagtgta cgaaacagac gtgtttgtcg tcggaaccga
      361 gagaggatgc gcttttgtta atgccaggac ggattttcag aaagattttg caaaatactg
      421 cgttgcagag ggactgtgtg aggtgaaacc tccctgccct gtgaacggga tgcaggtcca
      481 ctcgggcgaa acggaaatac tcaggaaggc agtggaggac tatttctgct tttgttatgg
      541 taaagcctta gggacaacag tgatggtgcc tgttccctat gagaagatgc tgcgagacca
      601 gtcggctgtg gtagtgcagg ggcttccgga aggcgttgcc tttcaacacc ctgagaatta
      661 cgaccttgca accctgaaat ggattttgga gaacaaagca gggatttcat tcatcataaa
      721 tagacccttc ctaggaccag agagtcagct gggtggccct gggatggtaa cagatgcgga
      781 gagatccata gtatcaccaa gtgaaagctg cggccccatc aatgtgaaaa ctgaacccat
      841 ggaagattct ggcatttcac tgaaagcaga agctgtctca gtcaagaaag aatcagaaga
      901 tcctaattac tatcaatata atatgcaagg aagccaccct tcttccacaa gcaatgaagt
      961 aatagaaatg gaattaccaa tggaagattc cactccgctg gtcccttcag aagaaccaaa
     1021 tgaggaccct gaagccgagg tgaaaatcga aggaaacaca aattcatcca gtgttacaaa
     1081 ttctgcagca ggtgttgaag atcttaacat cgttcaagtg actgttccag ataatgagaa
     1141 ggaaagatta tcaagcattg aaaagattaa acagctaaga gaacaagtta atgacctctt
     1201 tagccgaaaa tttggtgaag caattggcgt ggatttccct gtgaaagttc cctacaggaa
     1261 gatcacattc aaccctggct gtgtggtgat tgatggcatg cccccggggg tggtattcaa
     1321 ggcccccggc tatctggaaa tcagttccat gaggaggatc ttggaggcag ctgagtttat
     1381 caaattcaca gtcatcaggc cgcttccagg gcttgagctc agtaatgtgg gaaaacgcaa
     1441 gatagaccag gagggccgtg tgtttcaaga aaagtgggag agagcgtatt tcttcgtgga
     1501 agtacagaat attccaacat gtctcatatg caaacaaagc atgtctgtgt ccaaagaata
     1561 taacctaaga cgccactatc aaaccaatca cagcaagcat tatgaccagt atacggaaag
     1621 aatgcgtgac gagaagcttc acgagctgaa aaaagggctc aggaagtatc tcttaggctc
     1681 gtcagacacc gagtgtcccg agcaaaaaca agtgtttgca aacccaagtc caacccagaa
     1741 atcccccgtg cagcctgtag aggacctagc tgggaactta tgggagaagt tacgtgaaaa
     1801 aatcaggtct tttgtggcat attctatcgc aatcgatgag atcacggata taaataatac
     1861 cacccagttg gccatattca tccgtggtgt cgatgagaat ttcgatgtgt ccgaagaact
     1921 tctggacacg gtgcccatga cgggtacaaa atctggcaac gagatctttt tgcgtgttga
     1981 gaagagcctg aaaaagttct gtatcaactg gtcgagatta gtaagcgtgg cctccactgg
     2041 caccccagcg atggtggatg ccaataacgg gcttgtcaca aaactgaagt ccagggtggc
     2101 gacgttctgc aagggtgcgg aactgaagtc catctgttgt ataattcatc cggaatcact
     2161 ctgtgctcag aagttgaaga tggaccacgt catggacgtg gtagtgaagt ccgtgaactg
     2221 gatatgctcc cggggactga accacagcga gttcacaacc ttgctctatg agctggacag
     2281 ccagtatggt agcctcctgt actacacgga gattaagtgg ctcagtcgcg ggctcgtgct
     2341 aaagagattt ttcgaatcct tggaagaaat cgactccttc atgtcatcca gagggaaacc
     2401 cctgcctcaa ctgagctcca tagattggat ccgagacctg gccttcttgg ttgacatgac
     2461 gatgcatctg aacgctttga acatctctct ccaaggacac tcccaaatcg tcacgcagat
     2521 gtatgacctg atccgggcgt tcctagcaaa actgtgcctc tgggagactc atttgacgag
     2581 gaataatctg gcccactttc ccaccctgaa attggtttcc agaaatgaaa gcgatggcct
     2641 gaactacatt cccaaaatcg cggaactcaa gaccgaattc cagaaaaggc tgtctgattt
     2701 caaactctac gaaagcgaac tgactctgtt cagctccccg ttctccacga agatcgacag
     2761 tgtgcacgag gagctccaga tggaggttat cgacctgcaa tgcaacacgg tcctgaagac
     2821 gaaatacgac aaggtgggaa taccagaatt ctacaagtac ctctggggta gctacccgaa
     2881 atacaagcac cattgcgcaa agattctttc catgttcggg agcacctaca tctgcgaaca
     2941 gctgttctcc attatgaaac tgagcaaaac aaaatactgc tcccagttaa aggattccca
     3001 gtgggattct gtactccaca tcgcaacgtg atggagagaa aactcctggc agggccctat
     3061 ggtgggaaag gctggagtct tctagtccca agggattggg agatgacaaa atgaattttt
     3121 tttttctttt ttgagatgga gtcttgctct gtcgcccagg ttggagtgca gtggcgtgat
     3181 ctcggcttac tgcaacttcc agctcctggg ttcgaacgat tctcctgcct cagcctcccg
     3241 agcagctggg actacaggca tgcgccacca tgcccggcta atttttgtat tagtagagat
     3301 gaggtttcac catgttggcc aggctggtct ccaactcctg acctcaggtg atccacctgc
     3361 ctcgacctca caaagtgctg ggattacagg catgaaccac tgtgcccagc tgacaaaatg
     3421 agttcttaaa cttttttttt ttttcagttt tttttccact ttgaatcaga aatataatct
     3481 gcagtatcat acttgtttat attacattgt atgcctcact attcattaaa aatcaagaaa
     3541 gttttattgt a
//
LOCUS       NM_001003796            1458 bp    mRNA    linear   PRI 05-APR-2023
DEFINITION  Homo sapiens small nuclear ribonucleoprotein 13 (SNU13), transcript
            variant 2, mRNA.
ACCESSION   NM_001003796
VERSION     NM_001003796.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1458)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   2  (bases 1 to 1458)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1458)
  AUTHORS   Charenton C, Wilkinson ME and Nagai K.
  TITLE     Mechanism of 5' splice site transfer for human spliceosome
            activation
  JOURNAL   Science 364 (6438), 362-367 (2019)
   PUBMED   30975767
REFERENCE   4  (bases 1 to 1458)
  AUTHORS   Bertram K, Agafonov DE, Dybkov O, Haselbach D, Leelaram MN, Will CL,
            Urlaub H, Kastner B, Luhrmann R and Stark H.
  TITLE     Cryo-EM Structure of a Pre-catalytic Human Spliceosome Primed for
            Activation
  JOURNAL   Cell 170 (4), 701-713 (2017)
   PUBMED   28781166
REFERENCE   5  (bases 1 to 1458)
  AUTHORS   Quinternet M, Chagot ME, Rothe B, Tiotiu D, Charpentier B and
            Manival X.
  TITLE     Structural Features of the Box C/D snoRNP Pre-assembly Process Are
            Conserved through Species
  JOURNAL   Structure 24 (10), 1693-1706 (2016)
   PUBMED   27594683
  REMARK    GeneRIF: Results solve the structure of a complex resulting from
            interaction between protein fragments of human NUFIP1 and its
            cofactor ZNHIT3, and emphasize their imbrication. Also, it seems
            that the complexes involving NUFIP1, ZNHIT3, and SNU13 share strong
            structural similarities between human and yeast, suggesting that the
            initial steps of the box C/D snoRNP assembly process are conserved
            among species.
REFERENCE   6  (bases 1 to 1458)
  AUTHORS   Chang MS, Sasaki H, Campbell MS, Kraeft SK, Sutherland R, Yang CY,
            Liu Y, Auclair D, Hao L, Sonoda H, Ferland LH and Chen LB.
  TITLE     HRad17 colocalizes with NHP2L1 in the nucleolus and redistributes
            after UV irradiation
  JOURNAL   J Biol Chem 274 (51), 36544-36549 (1999)
   PUBMED   10593953
REFERENCE   7  (bases 1 to 1458)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP,
            Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird
            CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien
            KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   8  (bases 1 to 1458)
  AUTHORS   Nottrott S, Hartmuth K, Fabrizio P, Urlaub H, Vidovic I, Ficner R
            and Luhrmann R.
  TITLE     Functional interaction of a novel 15.5kD [U4/U6.U5] tri-snRNP
            protein with the 5' stem-loop of U4 snRNA
  JOURNAL   EMBO J 18 (21), 6119-6133 (1999)
   PUBMED   10545122
REFERENCE   9  (bases 1 to 1458)
  AUTHORS   Zhu X and Naz RK.
  TITLE     Fertilization antigen-1: cDNA cloning, testis-specific expression,
            and immunocontraceptive effects
  JOURNAL   Proc Natl Acad Sci U S A 94 (9), 4704-4709 (1997)
   PUBMED   9114055
REFERENCE   10  (bases 1 to 1458)
  AUTHORS   Saito H, Fujiwara T, Shin S, Okui K and Nakamura Y.
  TITLE     Cloning and mapping of a human novel cDNA (NHP2L1) that encodes a
            protein highly homologous to yeast nuclear protein NHP2
  JOURNAL   Cytogenet Cell Genet 72 (2-3), 191-193 (1996)
   PUBMED   8978773
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.67582.1,
            SRR5189661.62648.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000401959.6/ ENSP00000383949.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CF552526.1, D50420.1 and
            BI770951.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001003796.1.
            Summary: Originally named because of its sequence similarity to the
            Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein
            appears to be a highly conserved nuclear protein that is a
            component of the [U4/U6.U5] tri-snRNP. It binds to the 5' stem-loop
            of U4 snRNA. Two transcript variants encoding the same protein have
            been found for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 use different start codons but
            encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1458
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..1458
                     /gene="SNU13"
                     /gene_synonym="15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27;
                     SNRNP15-5; SPAG12; SSFA1"
                     /note="small nuclear ribonucleoprotein 13"
                     /db_xref="GeneID:4809"
                     /db_xref="HGNC:HGNC:7819"
                     /db_xref="MIM:601304"
     misc_feature    51..53
                     /gene="SNU13"
                     /gene_synonym="15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27;
                     SNRNP15-5; SPAG12; SSFA1"
                     /note="upstream in-frame stop codon"
     CDS             72..458
                     /gene="SNU13"
                     /gene_synonym="15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27;
                     SNRNP15-5; SPAG12; SSFA1"
                     /note="non-histone chromosome protein 2-like 1; sperm
                     specific antigen 1; SNU13 homolog, small nuclear
                     ribonucleoprotein (U4/U6.U5); high mobility group-like
                     nuclear protein 2 homolog 1; NHP2 non-histone chromosome
                     protein 2-like 1; [U4/U6.U5] tri-snRNP 15.5 kD RNA binding
                     protein; U4/U6.U5 tri-snRNP 15.5 kDa protein"
                     /codon_start=1
                     /product="NHP2-like protein 1"
                     /protein_id="NP_001003796.1"
                     /db_xref="CCDS:CCDS33653.1"
                     /db_xref="GeneID:4809"
                     /db_xref="HGNC:HGNC:7819"
                     /db_xref="MIM:601304"
                     /translation="MTEADVNPKAYPLADAHLTKKLLDLVQQSCNYKQLRKGANEATKT
                     LNRGISEFIVMAADAEPLEIILHLPLLCEDKNVPYVFVRSKQALGRACGVSRPVIACSV
                     TIKEGSQLKQQIQSIQQSIERLLV"
     misc_feature    72..74
                     /gene="SNU13"
                     /gene_synonym="15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27;
                     SNRNP15-5; SPAG12; SSFA1"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P55769.3); acetylation site"
     misc_feature    75..77
                     /gene="SNU13"
                     /gene_synonym="15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27;
                     SNRNP15-5; SPAG12; SSFA1"
                     /note="N-acetylthreonine, in NHP2-like protein 1,
                     N-terminally processed. /evidence=ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:25944712;
                     propagated from UniProtKB/Swiss-Prot (P55769.3);
                     acetylation site"
     misc_feature    132..134
                     /gene="SNU13"
                     /gene_synonym="15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27;
                     SNRNP15-5; SPAG12; SSFA1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9D0T1; propagated from
                     UniProtKB/Swiss-Prot (P55769.3); acetylation site"
     misc_feature    177..215
                     /gene="SNU13"
                     /gene_synonym="15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27;
                     SNRNP15-5; SPAG12; SSFA1"
                     /note="propagated from UniProtKB/Swiss-Prot (P55769.3);
                     Region: Interaction with U4 snRNA and U4atac snRNA.
                     /evidence=ECO:0000269|PubMed:17412961,
                     ECO:0000269|PubMed:21784869"
     misc_feature    252..254
                     /gene="SNU13"
                     /gene_synonym="15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27;
                     SNRNP15-5; SPAG12; SSFA1"
                     /note="Interaction with U4 snRNA and U4atac snRNA.
                     /evidence=ECO:0000269|PubMed:17412961,
                     ECO:0000269|PubMed:21784869; propagated from
                     UniProtKB/Swiss-Prot (P55769.3); other site"
     misc_feature    327..329
                     /gene="SNU13"
                     /gene_synonym="15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27;
                     SNRNP15-5; SPAG12; SSFA1"
                     /note="Interaction with U4 snRNA and U4atac snRNA.
                     /evidence=ECO:0000269|PubMed:17412961,
                     ECO:0000269|PubMed:21784869; propagated from
                     UniProtKB/Swiss-Prot (P55769.3); other site"
     misc_feature    357..455
                     /gene="SNU13"
                     /gene_synonym="15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27;
                     SNRNP15-5; SPAG12; SSFA1"
                     /note="propagated from UniProtKB/Swiss-Prot (P55769.3);
                     Region: Important for U4 snRNA-binding.
                     /evidence=ECO:0000269|PubMed:10545122"
     misc_feature    435..437
                     /gene="SNU13"
                     /gene_synonym="15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27;
                     SNRNP15-5; SPAG12; SSFA1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P55769.3); phosphorylation site"
     regulatory      560..565
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNU13"
                     /gene_synonym="15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27;
                     SNRNP15-5; SPAG12; SSFA1"
                     /note="hexamer: TATAAA"
     polyA_site      583
                     /gene="SNU13"
                     /gene_synonym="15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27;
                     SNRNP15-5; SPAG12; SSFA1"
                     /note="major polyA site"
     regulatory      1433..1438
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNU13"
                     /gene_synonym="15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27;
                     SNRNP15-5; SPAG12; SSFA1"
                     /note="hexamer: AATAAA"
     polyA_site      1458
                     /gene="SNU13"
                     /gene_synonym="15.5K; FA-1; FA1; NHP2L1; NHPX; OTK27;
                     SNRNP15-5; SPAG12; SSFA1"
                     /note="major polyA site"
ORIGIN
        1 cggtgcacgc gagtgcttct gaaacgtcag ctgcgctccc ctaggagtgc tgagcccgcg
       61 gaaccgcagc catgactgag gctgatgtga atccaaaggc ctatcccctt gccgatgccc
      121 acctcaccaa gaagctactg gacctcgttc agcagtcatg taactataag cagcttcgga
      181 aaggagccaa tgaggccacc aaaaccctca acaggggcat ctctgagttc atcgtgatgg
      241 ctgcagacgc cgagccactg gagatcattc tgcacctgcc gctgctgtgt gaagacaaga
      301 atgtgcccta cgtgtttgtg cgctccaagc aggccctggg gagagcctgt ggggtctcca
      361 ggcctgtcat cgcctgttct gtcaccatca aagaaggctc gcagctgaaa cagcagatcc
      421 aatccattca gcagtccatt gaaaggctct tagtctaaac ctgtggcctc tgccacgtgc
      481 tccctgccag cttcccccct gaggttgtgt atcatattat ctgtgttagc atgtagtatt
      541 ttcagctact ctctattgtt ataaaatgta gtactaaatc tggtttctgg atttttgtgt
      601 tgtttttgtt ctgttttaca gggttgctat cccccttcct ttcctccctc cctctgccat
      661 ccttcatcct tttatcctcc ctttttggaa caagtgttca gagcagacag aagcagggtg
      721 gtggcaccgt tgaaaggcag aaagagccag gagaaagctg atggagccag gacagagatc
      781 tggttccagc tttcagccac tagcttcctg ttgtgtgcgg ggtgtggtgg aattaaacag
      841 cattcattgt gtgtccctgt gcctggcaca cagaatcatt catacgtgtt caagtgatca
      901 aggggtttca tttgctcttg ggggattagg tatcatttgg ggaggaagca tgtgttctgt
      961 gaggttgttc ggctatgtcc aagtgtcgtt tactaatgta cccctgctgt ttgcttttgg
     1021 taatgtgatg ttgatgttct ccccctaccc acaaccatgc ccttgagggt agcagggcag
     1081 cagcatacca aagagatgtg ctgcaggact ccggaggcag cctgggtggg tgagccatgg
     1141 ggcagttgac ctgggtcttg aaagagtcgg gagtgacaag ctcagagagc atgaactgat
     1201 gctggcatga aggattccag gaagatcatg gagacctggc tggtagctgt aacagagatg
     1261 gtggagtcca aggaaacagc ctgtctctgg tgaatgggac tttctttggt ggacacttgg
     1321 caccagctct gagagccctt cccctgtgtc ctgccaccat gtgggtcaga tgtactctct
     1381 gtcacatgag gagagtgcta gttcatgtgt tctccattct tgtgagcatc ctaataaatc
     1441 tgttccattt tgatgaca
//
LOCUS       NM_001003799            1016 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens TCR gamma alternate reading frame protein (TARP),
            transcript variant 1, mRNA.
ACCESSION   NM_001003799
VERSION     NM_001003799.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1016)
  AUTHORS   Shi Y, He Z, Bei L, Tao H, Ding B, Tao S, Wang C and Yu L.
  TITLE     High expression of TARP correlates with inferior FLT3 mutations in
            non-adolescents and young adults with acute myeloid leukaemia
  JOURNAL   Hematology 26 (1), 380-387 (2021)
   PUBMED   33971801
  REMARK    GeneRIF: High expression of TARP correlates with inferior FLT3
            mutations in non-adolescents and young adults with acute myeloid
            leukaemia.
REFERENCE   2  (bases 1 to 1016)
  AUTHORS   Zhao LJ, Li XP, Qi WJ, Wang JL and Wei LH.
  TITLE     Value of T cell receptor gamma alternate reading frame protein and
            keratin 5 in endometrial carcinoma
  JOURNAL   Chin Med J (Engl) 126 (22), 4260-4264 (2013)
   PUBMED   24238509
  REMARK    GeneRIF: The expression of TARP and KRT5 was correlated with the
            progress of endometrial cancer
REFERENCE   3  (bases 1 to 1016)
  AUTHORS   Drummond JB, Tucholski J, Haroutunian V and Meador-Woodruff JH.
  TITLE     Transmembrane AMPA receptor regulatory protein (TARP) dysregulation
            in anterior cingulate cortex in schizophrenia
  JOURNAL   Schizophr Res 147 (1), 32-38 (2013)
   PUBMED   23566497
  REMARK    GeneRIF: The results of this study found decreased transcript
            expression of TARP gamma-8 in schizophrenia.
REFERENCE   4  (bases 1 to 1016)
  AUTHORS   Hillerdal V, Nilsson B, Carlsson B, Eriksson F and Essand M.
  TITLE     T cells engineered with a T cell receptor against the prostate
            antigen TARP specifically kill HLA-A2+ prostate and breast cancer
            cells
  JOURNAL   Proc Natl Acad Sci U S A 109 (39), 15877-15881 (2012)
   PUBMED   23019373
  REMARK    GeneRIF: T cells engineered with a T cell receptor against the
            prostate antigen TARP specifically kill HLA-A2+ prostate and breast
            cancer cells.
REFERENCE   5  (bases 1 to 1016)
  AUTHORS   Maeda H, Nagata S, Wolfgang CD, Bratthauer GL, Bera TK and Pastan I.
  TITLE     The T cell receptor gamma chain alternate reading frame protein
            (TARP), a prostate-specific protein localized in mitochondria
  JOURNAL   J Biol Chem 279 (23), 24561-24568 (2004)
   PUBMED   15150260
REFERENCE   6  (bases 1 to 1016)
  AUTHORS   Wolfgang CD, Essand M, Vincent JJ, Lee B and Pastan I.
  TITLE     TARP: a nuclear protein expressed in prostate and breast cancer
            cells derived from an alternate reading frame of the T cell receptor
            gamma chain locus
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9437-9442 (2000)
   PUBMED   10931945
REFERENCE   7  (bases 1 to 1016)
  AUTHORS   Mami-Chouaib F, Del Porto P, Delorme D and Hercend T.
  TITLE     Further evidence for a gamma/delta T cell receptor-mediated
            TCT.1/CD48 recognition
  JOURNAL   J Immunol 147 (9), 2864-2867 (1991)
   PUBMED   1655899
REFERENCE   8  (bases 1 to 1016)
  AUTHORS   Tighe L, Forster A, Clark DM, Boylston AW, Lavenir I and Rabbitts
            TH.
  TITLE     Unusual forms of T cell gamma mRNA in a human T cell leukemia cell
            line: implications for gamma gene expression
  JOURNAL   Eur J Immunol 17 (12), 1729-1736 (1987)
   PUBMED   2961573
REFERENCE   9  (bases 1 to 1016)
  AUTHORS   Krangel,M.S., Band,H., Hata,S., McLean,J. and Brenner,M.B.
  TITLE     Structurally divergent human T cell receptor gamma proteins encoded
            by distinct C gamma genes
  JOURNAL   Science 237 (4810), 64-67 (1987)
   PUBMED   2955517
REFERENCE   10  (bases 1 to 1016)
  AUTHORS   Yoshikai,Y., Toyonaga,B., Koga,Y., Kimura,N., Griesser,H. and
            Mak,T.W.
  TITLE     Repertoire of the human T cell gamma genes: high frequency of
            nonfunctional transcripts in thymus and mature T cells
  JOURNAL   Eur J Immunol 17 (1), 119-126 (1987)
   PUBMED   2949984
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF151103.1, BF679123.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2153427
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000698248.1/ ENSP00000513628.1
            NMD candidate                      :: PMID: 10931945, 15150260
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF151103.1 and BF674593.1.
            On Aug 13, 2020 this sequence version replaced NM_001003799.1.
            Summary: In some non-lymphoid tissues, the unrearranged T cell
            receptor gamma (TRG@) locus is expressed. The resulting transcript
            contains a subset of the TRG@ gene segments and is shorter than
            TRG@ transcripts expressed in lymphoid tissues. This RefSeq record
            represents the unrearranged TRG@ locus transcript; the complete
            TRG@ locus is represented by the genomic RefSeq NG_001336. The
            transcript represented by this RefSeq has two open reading frames
            (ORFs) that encode different proteins. The downstream ORF is in the
            same frame as TRG@ and its protein product is similar to TRG@
            proteins. The upstream ORF uses a different reading frame and
            encodes a novel protein. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) uses the upstream ORF. The
            resulting protein (isoform 1) localizes to the outer mitochondrial
            membrane.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1016
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.1"
     gene            1..1016
                     /gene="TARP"
                     /gene_synonym="CD3G; TCRG; TCRGC1; TCRGC2; TCRGV"
                     /note="TCR gamma alternate reading frame protein"
                     /db_xref="GeneID:445347"
                     /db_xref="MIM:609642"
     C_region        51..571
                     /gene="TARP"
                     /gene_synonym="CD3G; TCRG; TCRGC1; TCRGC2; TCRGV"
                     /note="C region TRGC1"
     CDS             63..239
                     /gene="TARP"
                     /gene_synonym="CD3G; TCRG; TCRGC1; TCRGC2; TCRGV"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Vgamma9ChainTCRMOP; TCR- gamma V-IV; T-cell receptor
                     gamma-chain constant region; T cell receptor gamma chain
                     variable; TCR V3-JP2-Cgamma2; antigen, T-cell receptor"
                     /codon_start=1
                     /product="TCR gamma alternate reading frame protein isoform
                     1"
                     /protein_id="NP_001003799.1"
                     /db_xref="CCDS:CCDS94087.1"
                     /db_xref="GeneID:445347"
                     /db_xref="MIM:609642"
                     /translation="MQMFPPSPLFFFLQLLKQSSRRLEHTFVFLRNFSLMLLRYIGKKR
                     RATRFWDPRRGTP"
     regulatory      332..337
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TARP"
                     /gene_synonym="CD3G; TCRG; TCRGC1; TCRGC2; TCRGV"
                     /note="hexamer: AATAAA"
     polyA_site      356
                     /gene="TARP"
                     /gene_synonym="CD3G; TCRG; TCRGC1; TCRGC2; TCRGV"
                     /note="major polyA site"
ORIGIN
        1 gggcaaaaaa atcaaggtat ttggtcccgg aacaaagctt atcattacag ataaacaact
       61 tgatgcagat gtttccccca agcccactat ttttcttcct tcaattgctg aaacaaagct
      121 ccagaaggct ggaacatacc tttgtcttct tgagaaattt ttccctgatg ttattaagat
      181 acattggcaa gaaaagaaga gcaacacgat tctgggatcc caggagggga acaccatgaa
      241 gactaacgac acatacatga aatttagctg gttaacggtg ccagaaaagt cactggacaa
      301 agaacacaga tgtatcgtca gacatgagaa taataaaaac ggagttgatc aagaaattat
      361 ctttcctcca ataaagacag atgtcatcac aatggatccc aaagacaatt gttcaaaaga
      421 tgcaaatgat acactactgc tgcagctcac aaacacctct gcatattaca tgtacctcct
      481 cctgctcctc aagagtgtgg tctattttgc catcatcacc tgctgtctgc ttagaagaac
      541 ggctttctgc tgcaatggag agaaatcata acagacggtg gcacaaggag gccatctttt
      601 cctcatcggt tattgtccct agaagcgtct tctgaggatc tagttgggct ttctttctgg
      661 gtttgggcca tttcagttct catgtgtgta ctattctatc attattgtat aacggttttc
      721 aaaccagtgg gcacacagag aacctcactc tgtaataaca atgaggaata gccacggcga
      781 tctccagcac caatctctcc atgttttcca cagctcctcc agccaaccca aatagcgcct
      841 gctatagtgt agacatcctg cggcttctag ccttgtccct ctcttagtgt tctttaatca
      901 gataactgcc tggaagcctt tcattttaca cgccctgaag cagtcttctt tgctagttga
      961 attatgtggt gtgtttttcc gtaataagca aaataaattt aaaaaaatga aaagtt
//
LOCUS       NM_001003800            6448 bp    mRNA    linear   PRI 20-APR-2023
DEFINITION  Homo sapiens BICD cargo adaptor 2 (BICD2), transcript variant 1,
            mRNA.
ACCESSION   NM_001003800
VERSION     NM_001003800.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6448)
  AUTHORS   Unger A, Roos A, Gangfuss A, Hentschel A, Glaser D, Krause K,
            Doering K, Schara-Schmidt U, Hoffjan S, Vorgerd M and Guttsches AK.
  TITLE     Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle
            Pathology toward the Evaluation of Novel Variants
  JOURNAL   Int J Mol Sci 24 (7), 6808 (2023)
   PUBMED   37047781
  REMARK    GeneRIF: Microscopic and Biochemical Hallmarks of BICD2-Associated
            Muscle Pathology toward the Evaluation of Novel Variants.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6448)
  AUTHORS   Yi J, Zhao X, Noell CR, Helmer P, Solmaz SR and Vallee RB.
  TITLE     Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental
            disorders
  JOURNAL   PLoS Genet 19 (3), e1010642 (2023)
   PUBMED   36930595
  REMARK    GeneRIF: Role of Nesprin-2 and RanBP2 in BICD2-associated brain
            developmental disorders. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6448)
  AUTHORS   Fagiewicz R, Crucifix C, Klos T, Deville C, Kieffer B, Nomine Y,
            Busselez J, Rossolillo P and Schmidt H.
  TITLE     In vitro characterization of the full-length human dynein-1 cargo
            adaptor BicD2
  JOURNAL   Structure 30 (11), 1470-1478 (2022)
   PUBMED   36150379
  REMARK    GeneRIF: In vitro characterization of the full-length human dynein-1
            cargo adaptor BicD2.
REFERENCE   4  (bases 1 to 6448)
  AUTHORS   Luo K, Zheng C, Luo R, Cao X, Sun H, Ma H, Huang J, Yang X, Wu X and
            Li X.
  TITLE     Identification and functional characterization of BICD2 as a
            candidate disease gene in an consanguineous family with dilated
            cardiomyopathy
  JOURNAL   BMC Med Genomics 15 (1), 189 (2022)
   PUBMED   36068540
  REMARK    GeneRIF: Identification and functional characterization of BICD2 as
            a candidate disease gene in an consanguineous family with dilated
            cardiomyopathy. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6448)
  AUTHORS   Xiu J, Li J, Liu Z, Wei H, Zhu C, Han R, Liu Z, Zhu W, Shen Y and Xu
            Q.
  TITLE     Elevated BICD2 DNA methylation in blood of major depressive disorder
            patients and reduction of depressive-like behaviors in hippocampal
            Bicd2-knockdown mice
  JOURNAL   Proc Natl Acad Sci U S A 119 (30), e2201967119 (2022)
   PUBMED   35858435
  REMARK    GeneRIF: Elevated BICD2 DNA methylation in blood of major depressive
            disorder patients and reduction of depressive-like behaviors in
            hippocampal Bicd2-knockdown mice.
REFERENCE   6  (bases 1 to 6448)
  AUTHORS   Matanis T, Akhmanova A, Wulf P, Del Nery E, Weide T, Stepanova T,
            Galjart N, Grosveld F, Goud B, De Zeeuw CI, Barnekow A and
            Hoogenraad CC.
  TITLE     Bicaudal-D regulates COPI-independent Golgi-ER transport by
            recruiting the dynein-dynactin motor complex
  JOURNAL   Nat Cell Biol 4 (12), 986-992 (2002)
   PUBMED   12447383
  REMARK    Erratum:[Nat Cell Biol. 2003 Jan;5(1):84.]
REFERENCE   7  (bases 1 to 6448)
  AUTHORS   Short B, Preisinger C, Schaletzky J, Kopajtich R and Barr FA.
  TITLE     The Rab6 GTPase regulates recruitment of the dynactin complex to
            Golgi membranes
  JOURNAL   Curr Biol 12 (20), 1792-1795 (2002)
   PUBMED   12401177
REFERENCE   8  (bases 1 to 6448)
  AUTHORS   Holland PM, Milne A, Garka K, Johnson RS, Willis C, Sims JE, Rauch
            CT, Bird TA and Virca GD.
  TITLE     Purification, cloning, and characterization of Nek8, a novel
            NIMA-related kinase, and its candidate substrate Bicd2
  JOURNAL   J Biol Chem 277 (18), 16229-16240 (2002)
   PUBMED   11864968
  REMARK    GeneRIF: isolation, cloning, and characterization of human Nek8, a
            new mammalian NIMA-related kinase, and its candidate substrate Bicd2
REFERENCE   9  (bases 1 to 6448)
  AUTHORS   Hoogenraad CC, Akhmanova A, Howell SA, Dortland BR, De Zeeuw CI,
            Willemsen R, Visser P, Grosveld F and Galjart N.
  TITLE     Mammalian Golgi-associated Bicaudal-D2 functions in the
            dynein-dynactin pathway by interacting with these complexes
  JOURNAL   EMBO J 20 (15), 4041-4054 (2001)
   PUBMED   11483508
REFERENCE   10  (bases 1 to 6448)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301682
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC073970.1, SRR1803612.239662.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000356884.11/ ENSP00000349351.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136981.22, BC073970.1,
            BC010428.1 and BC004296.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001003800.1.
            Summary: This gene is one of two human homologs of Drosophila
            bicaudal-D and a member of the Bicoid family. It has been
            implicated in dynein-mediated, minus end-directed motility along
            microtubules. It has also been reported to be a phosphorylation
            target of NIMA related kinase 8. Two alternative splice variants
            have been described. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6448
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.31"
     gene            1..6448
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="BICD cargo adaptor 2"
                     /db_xref="GeneID:23299"
                     /db_xref="HGNC:HGNC:17208"
                     /db_xref="MIM:609797"
     misc_feature    33..35
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="upstream in-frame stop codon"
     CDS             90..2657
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="isoform 1 is encoded by transcript variant 1;
                     homolog of Drosophila bicaudal D; cytoskeleton-like
                     bicaudal D protein homolog 2; bicaudal D homolog 2; protein
                     bicaudal D homolog 2; coiled-coil protein BICD2; bic-D 2"
                     /codon_start=1
                     /product="protein bicaudal D homolog 2 isoform 1"
                     /protein_id="NP_001003800.1"
                     /db_xref="CCDS:CCDS35064.1"
                     /db_xref="GeneID:23299"
                     /db_xref="HGNC:HGNC:17208"
                     /db_xref="MIM:609797"
                     /translation="MSAPSEEEEYARLVMEAQPEWLRAEVKRLSHELAETTREKIQAAE
                     YGLAVLEEKHQLKLQFEELEVDYEAIRSEMEQLKEAFGQAHTNHKKVAADGESREESLI
                     QESASKEQYYVRKVLELQTELKQLRNVLTNTQSENERLASVAQELKEINQNVEIQRGRL
                     RDDIKEYKFREARLLQDYSELEEENISLQKQVSVLRQNQVEFEGLKHEIKRLEEETEYL
                     NSQLEDAIRLKEISERQLEEALETLKTEREQKNSLRKELSHYMSINDSFYTSHLHVSLD
                     GLKFSDDAAEPNNDAEALVNGFEHGGLAKLPLDNKTSTPKKEGLAPPSPSLVSDLLSEL
                     NISEIQKLKQQLMQMEREKAGLLATLQDTQKQLEHTRGSLSEQQEKVTRLTENLSALRR
                     LQASKERQTALDNEKDRDSHEDGDYYEVDINGPEILACKYHVAVAEAGELREQLKALRS
                     THEAREAQHAEEKGRYEAEGQALTEKVSLLEKASRQDRELLARLEKELKKVSDVAGETQ
                     GSLSVAQDELVTFSEELANLYHHVCMCNNETPNRVMLDYYREGQGGAGRTSPGGRTSPE
                     ARGRRSPILLPKGLLAPEAGRADGGTGDSSPSPGSSLPSPLSDPRREPMNIYNLIAIIR
                     DQIKHLQAAVDRTTELSRQRIASQELGPAVDKDKEALMEEILKLKSLLSTKREQITTLR
                     TVLKANKQTAEVALANLKSKYENEKAMVTETMMKLRNELKALKEDAATFSSLRAMFATR
                     CDEYITQLDEMQRQLAAAEDEKKTLNSLLRMAIQQKLALTQRLELLELDHEQTRRGRAK
                     AAPKTKPATPSVSHTCACASDRAEGTGLANQVFCSEKHSIYCD"
     misc_feature    93..95
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8TD16.1); acetylation site"
     misc_feature    162..1283
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD16.1);
                     Region: Interacts with DYNLL1, DYNC1H1, DYNC1I2, DCTN1 and
                     DCTN2. /evidence=ECO:0000250|UniProtKB:Q921C5"
     misc_feature    657..659
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q8TD16.1); phosphorylation site"
     misc_feature    759..761
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TD16.1); phosphorylation site"
     misc_feature    1020..1079
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD16.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1041..1043
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TD16.1); phosphorylation site"
     misc_feature    1044..1046
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TD16.1); phosphorylation site"
     misc_feature    1089..1886
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD16.1);
                     Region: Interaction with KIF5A.
                     /evidence=ECO:0000250|UniProtKB:Q921C5"
     misc_feature    1116..1118
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q8TD16.1); phosphorylation site"
     misc_feature    1272..1274
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q8TD16.1); phosphorylation site"
     misc_feature    1281..1364
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD16.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1764..1955
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD16.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1791..1793
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TD16.1); phosphorylation site"
     misc_feature    1809..1811
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TD16.1); phosphorylation site"
     misc_feature    1833..1835
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:15144186,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8TD16.1);
                     phosphorylation site"
     misc_feature    1857..2561
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD16.1);
                     Region: Interaction with RANBP2.
                     /evidence=ECO:0000250|UniProtKB:Q921C5"
     misc_feature    1893..1895
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TD16.1); phosphorylation site"
     misc_feature    2085..2531
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD16.1);
                     Region: Interacts with RAB6A.
                     /evidence=ECO:0000250|UniProtKB:Q921C5"
     misc_feature    2499..2561
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TD16.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2550..2552
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8TD16.1); phosphorylation site"
     misc_feature    2556..2558
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8TD16.1); phosphorylation site"
     regulatory      6430..6435
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="hexamer: AATAAA"
     polyA_site      6448
                     /gene="BICD2"
                     /gene_synonym="bA526D8.1; SMALED2; SMALED2A; SMALED2B"
                     /note="major polyA site"
ORIGIN
        1 agggcggcgg cggcggcggc agcggcggcg gctgaggagg gcccggcctg cgagagcctc
       61 agtgggagcc ggctcagccc tcggccacca tgtcggcgcc gtcggaggag gaggagtacg
      121 cgcggctggt gatggaggcg cagccggagt ggctgcgcgc cgaggtgaag cggctgtccc
      181 acgagctggc cgagaccacg cgtgagaaga tccaggcggc cgagtacggg ctggcggtgc
      241 tcgaggagaa gcaccagctc aagctgcagt tcgaggagct cgaggtggac tatgaggcta
      301 tccgcagcga gatggagcag ctcaaggagg cctttggaca agcacacaca aaccacaaga
      361 aggtggctgc tgacggagag agccgggagg agagcctgat ccaggagtcg gcctccaagg
      421 agcagtacta cgtgcggaag gtgctagagc tgcagacgga gctgaagcag ttgcgcaatg
      481 tcctcaccaa cacgcagtcg gagaatgagc gcctggcctc tgtggcccag gagctgaagg
      541 agatcaacca gaatgtggag atccagcgtg gccgcctgcg ggatgacatc aaggagtaca
      601 aattccggga agctcgtctg ctgcaggact actcggaact ggaggaggag aacatcagcc
      661 tgcagaagca agtgtctgtg ctcagacaga accaggtgga gtttgagggc ctcaagcatg
      721 agatcaagcg tctggaggag gagaccgagt acctcaacag ccagctggag gatgccatcc
      781 gcctcaagga gatctcagag cggcagctgg aggaggcgct ggagaccctg aagacggagc
      841 gcgaacagaa gaacagcctg cgcaaggagc tgtcacacta catgagcatc aatgactcct
      901 tctacaccag ccacctgcat gtctcgctgg atggcctcaa gttcagtgac gatgctgccg
      961 agcccaacaa cgatgccgag gccctggtca atggctttga gcacggcggc ctggccaagc
     1021 tgccactgga caacaagacc tccacgccca agaaggaggg cctcgcaccg ccctccccca
     1081 gcctcgtctc cgacctactc agtgagctca acatctctga gatccagaag ctgaagcagc
     1141 agctgatgca gatggagcgg gaaaaggcgg gcctgctggc aacgctgcag gacacacaga
     1201 agcagctgga gcacacgcgg ggctccctgt cagaacagca ggagaaggtg acccgcctca
     1261 cagagaatct gagtgccctg cggcgcctgc aggccagcaa ggagcggcag acagccctgg
     1321 acaacgagaa ggaccgtgac agccatgagg atggggacta ctacgaggtg gacatcaacg
     1381 ggcctgagat cttggcctgc aagtaccatg tggctgtggc tgaggctggc gagctccgcg
     1441 agcagctcaa ggcactgcgc agcacgcacg aggctcgtga ggcccagcac gccgaggaga
     1501 agggccgcta tgaggctgag ggccaggcac tcacggagaa ggtctccctg ctagagaagg
     1561 ccagccgcca ggaccgcgag ctgctggccc ggctggagaa ggagctaaag aaggtgagcg
     1621 acgtcgccgg cgagacacag ggcagcctga gtgtggccca ggatgagctg gtgaccttca
     1681 gtgaggagct ggccaatctc taccaccacg tgtgcatgtg caacaatgag acacccaacc
     1741 gtgtcatgct ggactactac cgcgagggcc agggcggggc cggccgcacc agtcccgggg
     1801 gccgcaccag ccccgaggcg cgtggccggc gctcacccat cctcctaccc aaggggctgc
     1861 tggctcctga ggcgggccga gcagatggtg ggacggggga cagcagcccc tcgcctggct
     1921 cctcactgcc atcacccctg agtgacccac gccgggagcc catgaacatc tacaacctga
     1981 tcgctatcat ccgtgaccag atcaagcacc tgcaggcagc cgtggaccgc accacggagc
     2041 tgtcacgcca gcgcattgcc tctcaggagc tgggccccgc cgtggacaag gacaaggaag
     2101 cgcttatgga ggagatcctc aagctgaagt cgctgctcag caccaagcgg gagcagatca
     2161 ccacgctgcg cactgtgctc aaggccaaca agcagacggc cgaggtggcc cttgccaacc
     2221 tgaagagcaa gtatgagaat gagaaggcca tggttaccga gaccatgatg aagctgcgca
     2281 atgagctcaa ggccctcaag gaggacgcag ccaccttctc ctcgctgcgt gctatgtttg
     2341 ccaccaggtg tgacgagtac attacacagc tggatgagat gcagcggcag ctggcggctg
     2401 ctgaggacga gaagaagacg ctgaactcgc tgctgcgcat ggccatccag cagaagctgg
     2461 cgctgaccca gcggctggag ctgctcgagc tggaccatga gcagacccgg cgtggccgtg
     2521 ccaaagccgc cccgaagacc aagccagcca caccgagcgt aagtcacacc tgtgcctgtg
     2581 ccagcgacag ggccgagggc accgggctgg ccaaccaggt gttctgcagc gagaagcaca
     2641 gcatttactg tgattagggg ctgtggggcg ccgcacgctg cagctaacat ctgcttcacc
     2701 tcaactaacc cagcagcagc gggacggcgg tgctaggtca atcttaacgt gactaatgca
     2761 cagagggtag gagtctagcc gaggcgccat ggggcgttgc atcagcagga cacttgtgag
     2821 agctttgtgt cgcttctcac tcctcaaagc cccctcagga gcacccagtc ctcagctgct
     2881 ctcttaggtg ggggtcagag gtggggatag agctgcacat tcttgcagca gatgtgtgat
     2941 gaaagcatct tctaagccct gcgcacccgt ggggaaaccc aagggaggag tcctggtcct
     3001 gctccctcag cacccaaaag gggcagaacc tgagttgaga cttgcatgtt cctcgcatgt
     3061 gtctaatgtc agcactagaa agcagtttta ggaggttcca gcctgcagca taggtacgac
     3121 ctcagaggat ggctttgcac ttggcatagt ttcatggaaa ggagtacgtt gtagtttatg
     3181 cagtatctga ctgcaaatca tattcaggaa agaagtgcag aatttcttcc ccaagcccag
     3241 agaagagcag ccctgagccc ctgtattctg ctggccagac acacatggca cagacacagc
     3301 tgaccataac ccaggaatcc agagctcggt ttctcatttc tgagatcagg atgcttgtat
     3361 agtggcctgt gaggtgacag attggcaggg cccaaggccc caggttttca tttttcatga
     3421 gaaaagcttt ccaagtgcct ggccagacct tggtccttag tgcagagccc gtccttttgt
     3481 acttggggtg accccagcag ccaattatcc ggccttccat agggggttca gtcccaaaga
     3541 catggggctt tgaaaaccct agcctgaagt ctgagccacc aagggcttgg ctgggttgga
     3601 cacccacagg tgtatccaga gcccagcccg gtgctgggaa agctttgcat agggccaggg
     3661 ccacttgtca ggattcacag gtaggagatg tttaggtctc tttatttagt gcaatctggg
     3721 ggatggcaac agagaaagag gaaaggtagc tgtagggttc tcccatttcc agaggctcca
     3781 tccacacctg ccttcccaca ttctgagcag aacttttctc agtacttttt tcccgatcac
     3841 cctgtgggac cagctggacc tgaggctgca gtcttctctc ctgcaggctg cttgccttgt
     3901 ctctcatgcg gaagaggcat tcgagttacc tggtgagaga ccgtgttgcc ccctcccaca
     3961 gctctctgcc ctgcgcgttc ttccctttgg tgccgagtat gtttcggtcc cctccagact
     4021 ccaggacacg cccatgtatg tcccctgcgt gttcatcctg ggcccagatc cccctgcccc
     4081 agcaagactc gcagtgggat ggctgctggc atgcccaccc tgcatgcgct ttgccctctc
     4141 cttgcaagcc tggcacatag cttctctcca tactcctaag ggactttgca gacacccaag
     4201 ccactgggac ccctgctaac acatgcaggt cttctcttct gccaactaac gtgctcgcgc
     4261 cctcccagca cgtggagagc ttcaattgtc agataaacag gaagcgacag atgaccgctt
     4321 tctaacgctc tcttttctcc cgttttcagc tgtagagtag ctgccaggag gacttggcca
     4381 cccggccctg tcacactgca gccccttccc cttccctctc gtggcccaca aggaggaagg
     4441 aagggcaacc taaaagccca cttagaaact ttttggatat gccactgcaa ttcttttcaa
     4501 aatagcattc cccaggtttt taatgggagg aaaaaaagct ttaatgttga gcatgctgcg
     4561 agctgctgcg tggaaaggcc tctgtatggg ccgaagaccc ttcttccctg gctgccaggc
     4621 tcgccaggag cccactggaa acgcccacca cgggggctcc ttgttacaca tgttcttttt
     4681 ttatccgatc aacctgtgca cttttgatat tttgatatta tatttgcttc cttaattcct
     4741 cgcgtagaga cggtctcagg tgccgtggtc tatgctcgtg gtcctgtagc tgtccgcctc
     4801 agctcccacc gtgtttgtct ggtgtcagca cgaggcagag ctgtgtgctc catagcgtgt
     4861 agctttagac tcggagatga gtgctttgac ccagcgagga gctcagctaa gtgtatccac
     4921 gctgtggttc agcagccttt agatcatacg gcattgtggt tcatgtttga aattacagat
     4981 tttaaatgcc atgttcatta agaaatccag ggtattcaga ttctggggtt tttcatattg
     5041 tattattatt attcttagga atagttcaat gtaacaagaa gaaaacttga cctttgctct
     5101 ggttaaaaca gtaataggca cttgaaaaaa aaagataaat tattgaatga gtagtattac
     5161 ctacaaattc cagaattttc tgggttttag gacgttgtga agcatgactg attaacagaa
     5221 ttttatacaa ctgtaccaat aaaattccaa attggaattg ttttgttact ctggttgttg
     5281 tgccaaattg tggtacactt agaaaattct acagtcgtcg atttttaggg tgttctcttt
     5341 caacaccttt ttgttagtaa tcattgccag tagtgccttc atcagttaag ggaggtgtcc
     5401 cagcacagat cattctcaaa agcgagcagg gaagagctag tgggcatgct gaaggccagc
     5461 gtggacagca ggtgaggcag gtgctcctca cacccagacc tgggcatctt cattgaggga
     5521 aagaaaacag tcattgtgca aaattctgtt agtcagtgat tctttacttg caaattcagg
     5581 ggcttagaaa atgaaagcaa acacaaaacc ttgagtgtgc tttgggaacc aaatggacct
     5641 tctgggacaa gctgagcaag ctgtatgaac gccacgtttg tgaagagctg agggtatcag
     5701 gagggccgac gctgtgttgg catgcgcagt aggggatgag ggttagccat agtattcttt
     5761 gcaaatgtga aagcgagaca ttatatcttc tcttgcttgg tgtaactaat cactgttaat
     5821 ttcaggaaac agaactcatt aaaactcctt agcaaaccag gtctacatcc tgttttgttt
     5881 gctgagtgag gttagtggga gtggtcaaat tggtactctt ggaggaagaa aaactgtcct
     5941 tccttctcca aaaaaggaaa aattataata atataaatga caaaaataaa agaattctgt
     6001 ttcctggaat aagcatttct tattcctagt tgtagggact cctattttta ccttccgtta
     6061 cagtgttgat tcataagaaa tattgttaca tttgagataa cttcatctgt atggggtatt
     6121 tatttgcaat gatgtctgag tactgtattt tttctgtgca ttaccttagt gtcagaatgt
     6181 tggtctttat tttaaagtca tatgcatgtt ctcctgccaa ggaaccttta cacagaccca
     6241 aacaaaaaaa taataatcaa atgccttcaa tttctgagaa aatgaggcag agcatggaaa
     6301 aggaatagga aggagaaatt aattgagatt ttcaggacac agacatatga tgtgaatgcc
     6361 tacaaagcca gtgcgcatag gaacagtggg cctgggtaaa gagtcacatt ggtaggacca
     6421 ataaagaata ataaaaagac aaagcaca
//
LOCUS       NM_001003801            1907 bp    mRNA    linear   PRI 20-JUN-2023
DEFINITION  Homo sapiens SWI/SNF related, matrix associated, actin dependent
            regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript
            variant 3, mRNA.
ACCESSION   NM_001003801
VERSION     NM_001003801.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1907)
  AUTHORS   Xu J, Li X, Chen W, Zhang Z, Zhou Y, Gou Y, Lv CA, Jin L, Qiu X, Ma
            S, Wu QQ, Liu T, Mi L, Yang Z, Yu T, Pan X, Feng Y, Shan P and Meng
            ZX.
  TITLE     Myofiber Baf60c controls muscle regeneration by modulating
            Dkk3-mediated paracrine signaling
  JOURNAL   J Exp Med 220 (9) (2023)
   PUBMED   37284884
  REMARK    GeneRIF: Myofiber Baf60c controls muscle regeneration by modulating
            Dkk3-mediated paracrine signaling.
REFERENCE   2  (bases 1 to 1907)
  AUTHORS   Ferguson LP, Gatchalian J, McDermott ML, Nakamura M, Chambers K,
            Rajbhandari N, Lytle NK, Rosenthal SB, Hamilton M, Albini S,
            Wartenberg M, Zlobec I, Galvan JA, Karamitopoulou E, Vavinskaya V,
            Wascher A, Lowy AM, Schurch CM, Puri PL, Bruneau BG, Hargreaves DC
            and Reya T.
  TITLE     Smarcd3 is an epigenetic modulator of the metabolic landscape in
            pancreatic ductal adenocarcinoma
  JOURNAL   Nat Commun 14 (1), 292 (2023)
   PUBMED   36653361
  REMARK    GeneRIF: Smarcd3 is an epigenetic modulator of the metabolic
            landscape in pancreatic ductal adenocarcinoma. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1907)
  AUTHORS   Zhao G, Zhao Y, Lu H, Chang Z, Liu H, Wang H, Liang W, Liu Y, Zhu T,
            Rom O, Guo Y, Chang L, Yang B, Garcia-Barrio MT, Lin JD, Chen YE and
            Zhang J.
  TITLE     BAF60c prevents abdominal aortic aneurysm formation through
            epigenetic control of vascular smooth muscle cell homeostasis
  JOURNAL   J Clin Invest 132 (21), e158309 (2022)
   PUBMED   36066968
  REMARK    GeneRIF: BAF60c prevents abdominal aortic aneurysm formation through
            epigenetic control of vascular smooth muscle cell homeostasis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1907)
  AUTHORS   Jiang M, Wang H, Chen H and Han Y.
  TITLE     SMARCD3 is a potential prognostic marker and therapeutic target in
            CAFs
  JOURNAL   Aging (Albany NY) 12 (20), 20835-20861 (2020)
   PUBMED   33125346
  REMARK    GeneRIF: SMARCD3 is a potential prognostic marker and therapeutic
            target in CAFs.
REFERENCE   5  (bases 1 to 1907)
  AUTHORS   Alpsoy A and Dykhuizen EC.
  TITLE     Glioma tumor suppressor candidate region gene 1 (GLTSCR1) and its
            paralog GLTSCR1-like form SWI/SNF chromatin remodeling subcomplexes
  JOURNAL   J Biol Chem 293 (11), 3892-3903 (2018)
   PUBMED   29374058
REFERENCE   6  (bases 1 to 1907)
  AUTHORS   Phelan ML, Sif S, Narlikar GJ and Kingston RE.
  TITLE     Reconstitution of a core chromatin remodeling complex from SWI/SNF
            subunits
  JOURNAL   Mol Cell 3 (2), 247-253 (1999)
   PUBMED   10078207
REFERENCE   7  (bases 1 to 1907)
  AUTHORS   Shanahan F, Seghezzi W, Parry D, Mahony D and Lees E.
  TITLE     Cyclin E associates with BAF155 and BRG1, components of the
            mammalian SWI-SNF complex, and alters the ability of BRG1 to induce
            growth arrest
  JOURNAL   Mol Cell Biol 19 (2), 1460-1469 (1999)
   PUBMED   9891079
REFERENCE   8  (bases 1 to 1907)
  AUTHORS   Ring HZ, Vameghi-Meyers V, Wang W, Crabtree GR and Francke U.
  TITLE     Five SWI/SNF-related, matrix-associated, actin-dependent regulator
            of chromatin (SMARC) genes are dispersed in the human genome
  JOURNAL   Genomics 51 (1), 140-143 (1998)
   PUBMED   9693044
REFERENCE   9  (bases 1 to 1907)
  AUTHORS   Wang W, Cote J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C,
            Kalpana GV, Goff SP, Yaniv M, Workman JL and Crabtree GR.
  TITLE     Purification and biochemical heterogeneity of the mammalian SWI-SNF
            complex
  JOURNAL   EMBO J 15 (19), 5370-5382 (1996)
   PUBMED   8895581
REFERENCE   10  (bases 1 to 1907)
  AUTHORS   Wang W, Xue Y, Zhou S, Kuo A, Cairns BR and Crabtree GR.
  TITLE     Diversity and specialization of mammalian SWI/SNF complexes
  JOURNAL   Genes Dev 10 (17), 2117-2130 (1996)
   PUBMED   8804307
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY450430.1, SRR14038192.3740555.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000262188.13/ ENSP00000262188.8
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005486.2, AY450430.1 and
            AC021097.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001003801.1.
            Summary: The protein encoded by this gene is a member of the
            SWI/SNF family of proteins, whose members display helicase and
            ATPase activities and which are thought to regulate transcription
            of certain genes by altering the chromatin structure around those
            genes. The encoded protein is part of the large ATP-dependent
            chromatin remodeling complex SNF/SWI and has sequence similarity to
            the yeast Swp73 protein. Multiple alternatively spliced transcript
            variants have been found for this gene, but the biological validity
            of some variants has not been determined. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (3), also known as hBAF60c2, has
            an alternate 5' sequence, as compared to variant 1. The encoded
            isoform 2 has a longer and distinct N-terminus, as compared to
            isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1907
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..1907
                     /gene="SMARCD3"
                     /gene_synonym="BAF60C; CRACD3; Rsc6p"
                     /note="SWI/SNF related, matrix associated, actin dependent
                     regulator of chromatin, subfamily d, member 3"
                     /db_xref="GeneID:6604"
                     /db_xref="HGNC:HGNC:11108"
                     /db_xref="MIM:601737"
     misc_feature    13..15
                     /gene="SMARCD3"
                     /gene_synonym="BAF60C; CRACD3; Rsc6p"
                     /note="upstream in-frame stop codon"
     CDS             133..1584
                     /gene="SMARCD3"
                     /gene_synonym="BAF60C; CRACD3; Rsc6p"
                     /note="isoform 2 is encoded by transcript variant 3;
                     mammalian chromatin remodeling complex BRG1-associated
                     factor 60C; Swp73-like protein; chromatin remodeling
                     complex BAF60C subunit; SWI/SNF complex 60 kDa subunit C;
                     60 kDa BRG-1/Brm-associated factor subunit C"
                     /codon_start=1
                     /product="SWI/SNF-related matrix-associated actin-dependent
                     regulator of chromatin subfamily D member 3 isoform 2"
                     /protein_id="NP_001003801.1"
                     /db_xref="CCDS:CCDS34780.1"
                     /db_xref="GeneID:6604"
                     /db_xref="HGNC:HGNC:11108"
                     /db_xref="MIM:601737"
                     /translation="MAADEVAGGARKATKSKLFEFLVHGVRPGMPSGARMPHQGAPMGP
                     PGSPYMGSPAVRPGLAPAGMEPARKRAAPPPGQSQAQSQGQPVPTAPARSRSAKRRKMA
                     DKILPQRIRELVPESQAYMDLLAFERKLDQTIMRKRVDIQEALKRPMKQKRKLRLYISN
                     TFNPAKPDAEDSDGSIASWELRVEGKLLDDPSKQKRKFSSFFKSLVIELDKDLYGPDNH
                     LVEWHRTPTTQETDGFQVKRPGDLSVRCTLLLMLDYQPPQFKLDPRLARLLGLHTQSRS
                     AIVQALWQYVKTNRLQDSHDKEYINGDKYFQQIFDCPRLKFSEIPQRLTALLLPPDPIV
                     INHVISVDPSDQKKTACYDIDVEVEEPLKGQMSSFLLSTANQQEISALDSKIHETIESI
                     NQLKIQRDFMLSFSRDPKGYVQDLLRSQSRDLKVMTDVAGNPEEERRAEFYHQPWSQEA
                     VSRYFYCKIQQRRQELEQSLVVRNT"
     misc_feature    136..138
                     /gene="SMARCD3"
                     /gene_synonym="BAF60C; CRACD3; Rsc6p"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q6STE5.1); acetylation site"
     misc_feature    208..438
                     /gene="SMARCD3"
                     /gene_synonym="BAF60C; CRACD3; Rsc6p"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6STE5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    664..666
                     /gene="SMARCD3"
                     /gene_synonym="BAF60C; CRACD3; Rsc6p"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q6STE5.1); phosphorylation site"
     regulatory      1693..1698
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMARCD3"
                     /gene_synonym="BAF60C; CRACD3; Rsc6p"
                     /note="hexamer: ATTAAA"
     polyA_site      1714
                     /gene="SMARCD3"
                     /gene_synonym="BAF60C; CRACD3; Rsc6p"
                     /note="major polyA site"
     polyA_site      1907
                     /gene="SMARCD3"
                     /gene_synonym="BAF60C; CRACD3; Rsc6p"
ORIGIN
        1 actccgctcg agtagaagtg tgagagagcc cagcaggact cagaggggag agttggagga
       61 aaaaaaaagg cagaaaaggg aaagaaagag gaagagagag agagagtgag aggagccgct
      121 gagcccaccc cgatggccgc ggacgaagtt gccggagggg cgcgcaaagc cacgaaaagc
      181 aaactttttg agtttctggt ccatggggtg cgccccggga tgccgtctgg agcccggatg
      241 ccccaccagg gggcgcccat gggccccccg ggctccccgt acatgggcag ccccgccgtg
      301 cgacccggcc tggcccccgc gggcatggag cccgcccgca agcgagcagc gcccccgccc
      361 gggcagagcc aggcacagag ccagggccag ccggtgccca ccgcccccgc gcggagccgc
      421 agtgccaaga ggaggaagat ggctgacaaa atcctccctc aaaggattcg ggagctggtc
      481 cccgagtccc aggcttacat ggacctcttg gcatttgaga ggaaactgga tcaaaccatc
      541 atgcggaagc gggtggacat ccaggaggct ctgaagaggc ccatgaagca aaagcggaag
      601 ctgcgactct atatctccaa cacttttaac cctgcgaagc ctgatgctga ggattccgac
      661 ggcagcattg cctcctggga gctacgggtg gaggggaagc tcctggatga tcccagcaaa
      721 cagaagcgga agttctcttc tttcttcaag agtttggtca tcgagctgga caaagatctt
      781 tatggccctg acaaccacct cgttgagtgg catcggacac ccacgaccca ggagacggac
      841 ggcttccagg tgaaacggcc tggggacctg agtgtgcgct gcacgctgct cctcatgctg
      901 gactaccagc ctccccagtt caaactggat ccccgcctag cccggctgct ggggctgcac
      961 acacagagcc gctcagccat tgtccaggcc ctgtggcagt atgtgaagac caacaggctg
     1021 caggactccc atgacaagga atacatcaat ggggacaagt atttccagca gatttttgat
     1081 tgtccccggc tgaagttttc tgagattccc cagcgcctca cagccctgct attgccccct
     1141 gacccaattg tcatcaacca tgtcatcagc gtggaccctt cagaccagaa gaagacggcg
     1201 tgctatgaca ttgacgtgga ggtggaggag ccattaaagg ggcagatgag cagcttcctc
     1261 ctatccacgg ccaaccagca ggagatcagt gctctggaca gtaagatcca tgagacgatt
     1321 gagtccataa accagctcaa gatccagagg gacttcatgc taagcttctc cagagacccc
     1381 aaaggctatg tccaagacct gctccgctcc cagagccggg acctcaaggt gatgacagat
     1441 gtagccggca accctgaaga ggagcgccgg gctgagttct accaccagcc ctggtcccag
     1501 gaggccgtca gtcgctactt ctactgcaag atccagcagc gcaggcagga gctggagcag
     1561 tcgctggttg tgcgcaacac ctaggagccc aaaaataagc agcacgacgg aactttcagc
     1621 cgtgtcccgg gccccagcat tttgccccgg gctccagcat cactcctctg ccaccttggg
     1681 gtgtggggct ggattaaaag tcattcatct gacagcagcc gtgtggtcat tggaaactgg
     1741 ggaggggagg gggagagaag gggaagggaa gaaggtgggg aggcagtggg tccctcggga
     1801 cgactcccca ttcccttccc ttggattctt ctccttactc aattttccct agacctaaaa
     1861 acagtttggc agaagacatg tttaataaca ttttcatatt taaaaaa
//
LOCUS       NM_001003818            3422 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens tripartite motif containing 6 (TRIM6), transcript
            variant 1, mRNA.
ACCESSION   NM_001003818
VERSION     NM_001003818.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3422)
  AUTHORS   Liu X, Zhao J, Dong P, Du X, Lu W, Feng Y and Wang L.
  TITLE     TRIM6 silencing for inhibiting growth and angiogenesis of gliomas by
            regulating VEGFA
  JOURNAL   J Chem Neuroanat 132, 102291 (2023)
   PUBMED   37236551
  REMARK    GeneRIF: TRIM6 silencing for inhibiting growth and angiogenesis of
            gliomas by regulating VEGFA.
REFERENCE   2  (bases 1 to 3422)
  AUTHORS   Zhang Y, Dong P, Liu N, Yang JY, Wang HM and Geng Q.
  TITLE     TRIM6 Reduces Ferroptosis and Chemosensitivity by Targeting SLC1A5
            in Lung Cancer
  JOURNAL   Oxid Med Cell Longev 2023, 9808100 (2023)
   PUBMED   36654781
  REMARK    GeneRIF: TRIM6 Reduces Ferroptosis and Chemosensitivity by Targeting
            SLC1A5 in Lung Cancer. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3422)
  AUTHORS   Hage A, Bharaj P, van Tol S, Giraldo MI, Gonzalez-Orozco M, Valerdi
            KM, Warren AN, Aguilera-Aguirre L, Xie X, Widen SG, Moulton HM, Lee
            B, Johnson JR, Krogan NJ, Garcia-Sastre A, Shi PY, Freiberg AN and
            Rajsbaum R.
  TITLE     The RNA helicase DHX16 recognizes specific viral RNA to trigger
            RIG-I-dependent innate antiviral immunity
  JOURNAL   Cell Rep 38 (10), 110434 (2022)
   PUBMED   35263596
REFERENCE   4  (bases 1 to 3422)
  AUTHORS   Wei C, Wu J, Liu W, Lu J, Li H and Hai B.
  TITLE     Tripartite motif-containing protein 6 facilitates growth and
            migration of breast cancer through degradation of STUB1
  JOURNAL   Eur J Histochem 65 (1), 3214 (2021)
   PUBMED   33728863
  REMARK    GeneRIF: Tripartite motif-containing protein 6 facilitates growth
            and migration of breast cancer through degradation of STUB1.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3422)
  AUTHORS   Zheng S, Zhou C, Wang Y, Li H, Sun Y and Shen Z.
  TITLE     TRIM6 promotes colorectal cancer cells proliferation and response to
            thiostrepton by TIS21/FoxM1
  JOURNAL   J Exp Clin Cancer Res 39 (1), 23 (2020)
   PUBMED   31992359
  REMARK    GeneRIF: TRIM6 promotes colorectal cancer cells proliferation and
            response to thiostrepton by TIS21/FoxM1. Erratum:[J Exp Clin Cancer
            Res. 2022 Jul 13;41(1):221. PMID: 35831892] Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 3422)
  AUTHORS   Li X, Gold B, O'hUigin C, Diaz-Griffero F, Song B, Si Z, Li Y, Yuan
            W, Stremlau M, Mische C, Javanbakht H, Scally M, Winkler C, Dean M
            and Sodroski J.
  TITLE     Unique features of TRIM5alpha among closely related human TRIM
            family members
  JOURNAL   Virology 360 (2), 419-433 (2007)
   PUBMED   17156811
REFERENCE   7  (bases 1 to 3422)
  AUTHORS   Li X, Li Y, Stremlau M, Yuan W, Song B, Perron M and Sodroski J.
  TITLE     Functional replacement of the RING, B-box 2, and coiled-coil domains
            of tripartite motif 5alpha (TRIM5alpha) by heterologous TRIM domains
  JOURNAL   J Virol 80 (13), 6198-6206 (2006)
   PUBMED   16775307
  REMARK    GeneRIF: heterologous RING, B-box 2, and CC domains from related
            TRIM proteins can functionally substitute for TRIM5alpha(rh)
            domains.
REFERENCE   8  (bases 1 to 3422)
  AUTHORS   Woo JS, Imm JH, Min CK, Kim KJ, Cha SS and Oh BH.
  TITLE     Structural and functional insights into the B30.2/SPRY domain
  JOURNAL   EMBO J 25 (6), 1353-1363 (2006)
   PUBMED   16498413
REFERENCE   9  (bases 1 to 3422)
  AUTHORS   Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, Riganelli
            D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci S, Pelicci
            PG and Ballabio A.
  TITLE     The tripartite motif family identifies cell compartments
  JOURNAL   EMBO J 20 (9), 2140-2151 (2001)
   PUBMED   11331580
REFERENCE   10  (bases 1 to 3422)
  AUTHORS   Orimo A, Tominaga N, Yoshimura K, Yamauchi Y, Nomura M, Sato M, Nogi
            Y, Suzuki M, Suzuki H, Ikeda K, Inoue S and Muramatsu M.
  TITLE     Molecular cloning of ring finger protein 21
            (RNF21)/interferon-responsive finger protein (ifp1), which possesses
            two RING-B box-coiled coil domains in tandem
  JOURNAL   Genomics 69 (1), 143-149 (2000)
   PUBMED   11013086
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC047564.1, SRR1803611.47676.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380097.8/ ENSP00000369440.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290172.1, BC047564.1,
            AK316178.1 and AF220030.1.
            On Nov 22, 2018 this sequence version replaced NM_001003818.2.
            Summary: The protein encoded by this gene is a member of the
            tripartite motif (TRIM) family. The TRIM motif includes three
            zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain,
            and a coiled-coil region. The protein localizes to the nucleus, but
            its specific function has not been identified. This gene is mapped
            to chromosome 11p15, where it resides within a TRIM gene cluster.
            Alternative splicing results in multiple transcript variants. A
            read-through transcript from this gene into the downstream TRIM34
            gene has also been observed, which results in a fusion product from
            these neighboring family members. [provided by RefSeq, Oct 2010].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3422
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..3422
                     /gene="TRIM6"
                     /gene_synonym="RNF89"
                     /note="tripartite motif containing 6"
                     /db_xref="GeneID:117854"
                     /db_xref="HGNC:HGNC:16277"
                     /db_xref="MIM:607564"
     misc_feature    175..177
                     /gene="TRIM6"
                     /gene_synonym="RNF89"
                     /note="upstream in-frame stop codon"
     CDS             262..1812
                     /gene="TRIM6"
                     /gene_synonym="RNF89"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 1; RING
                     finger protein 89; RING-type E3 ubiquitin transferase
                     TRIM6"
                     /codon_start=1
                     /product="tripartite motif-containing protein 6 isoform 1"
                     /protein_id="NP_001003818.1"
                     /db_xref="CCDS:CCDS31389.1"
                     /db_xref="GeneID:117854"
                     /db_xref="HGNC:HGNC:16277"
                     /db_xref="MIM:607564"
                     /translation="MCGSERILQAGNILEIRVGQAGARRVATMTSPVLVDIREEVTCPI
                     CLELLTEPLSIDCGHSFCQACITPNGRESVIGQEGERSCPVCQTSYQPGNLRPNRHLAN
                     IVRRLREVVLGPGKQLKAVLCADHGEKLQLFCQEDGKVICWLCERSQEHRGHHTFLVEE
                     VAQEYQEKFQESLKKLKNEEQEAEKLTAFIREKKTSWKNQMEPERCRIQTEFNQLRNIL
                     DRVEQRELKKLEQEEKKGLRIIEEAENDLVHQTQSLRELISDLERRCQGSTMELLQDVS
                     DVTERSEFWTLRKPEALPTKLRSMFRAPDLKRMLRVCRELTDVQSYWVDVTLNPHTANL
                     NLVLAKNRRQVRFVGAKVSGPSCLEKHYDCSVLGSQHFSSGKHYWEVDVAKKTAWILGV
                     CSNSLGPTFSFNHFAQNHSAYSRYQPQSGYWVIGLQHNHEYRAYEDSSPSLLLSMTVPP
                     RRVGVFLDYEAGTVSFYNVTNHGFPIYTFSKYYFPTTLCPYFNPCNCVIPMTLRRPSS"
     regulatory      3400..3405
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRIM6"
                     /gene_synonym="RNF89"
                     /note="hexamer: AATAAA"
     polyA_site      3422
                     /gene="TRIM6"
                     /gene_synonym="RNF89"
                     /note="major polyA site"
ORIGIN
        1 agaaggagtt gggagatgag ccttccgcaa actcctgacc tgtgggtccg tccgttcaac
       61 ggccaaaggc tggcggagga gggatcccct gcctttctcg gaacggaacg gagcagagtc
      121 gtgcgtggtt gagtttagat aaaagccgag tgagcgcgct ctgttcctta agattagttt
      181 aaggtgcctt ggattgctct gaagagcttt gaccacctga tattgcttac atctggaact
      241 tcttggcttc tcattcccca gatgtgcggg tcagagagga ttctacaggc aggaaacatc
      301 ttagaaatca gggttgggca ggcaggagcc aggagagtag ctacaatgac ttcaccagta
      361 ctggtggaca tacgagaaga ggtgacctgc cctatctgcc tggagctcct aacagaaccc
      421 ctgagcatag actgtggcca cagcttctgc caagcctgca tcacaccaaa tggcagggaa
      481 tcagtgattg gtcaagaagg ggaaagaagc tgccctgtgt gccagaccag ctaccagcca
      541 gggaacctgc ggcctaatcg gcatctggcc aacatagtga ggcggctcag agaggtagtg
      601 ttgggccctg ggaagcagct gaaagcagtt ctttgtgcag accatggaga aaaactgcag
      661 ctcttctgtc aggaggatgg gaaggtcatt tgctggcttt gtgagcggtc tcaggagcac
      721 cgtggtcacc acacgttcct cgtggaggag gttgcccagg agtaccagga gaagtttcag
      781 gagtctctaa agaagctgaa gaacgaggag caggaagctg agaagctaac agcttttatc
      841 agagagaaga aaacatcctg gaagaatcag atggagcctg agagatgcag gatccagaca
      901 gagtttaatc agctgcgaaa tatcctagac agagtggagc aacgggagct gaaaaagctg
      961 gaacaggaag agaagaaggg gctacgaatt atagaagagg ctgagaatga tctggtccac
     1021 cagacccagt cgctgcgaga gctcatctcg gatctggagc gtcgatgtca ggggtcaaca
     1081 atggagctgc tgcaggatgt gagtgatgtc acagaaagga gtgagttctg gaccctgagg
     1141 aagccagaag ctctccctac aaagctgaga agtatgttcc gagccccaga tctgaaaagg
     1201 atgctgcgag tgtgtagaga gctgacagat gtccaaagct actgggttga cgtgaccctg
     1261 aatccacaca cagctaattt aaatcttgtc ctggctaaaa accggagaca agtgaggttt
     1321 gtgggagcta aagtatctgg accttcctgt ctggaaaagc attatgactg tagtgtcctg
     1381 ggctcccagc acttctcctc tggtaagcat tactgggagg tagatgtggc caagaagact
     1441 gcctggatcc tgggggtatg cagcaattca ctgggaccta cattctcttt caaccatttt
     1501 gctcaaaatc acagtgctta ctccaggtat cagcctcaga gtggatactg ggtgattggg
     1561 ttacagcata accatgaata tagggcctat gaggattctt ccccttccct gcttctctcc
     1621 atgacagtgc cccctcgccg tgttggggtt ttcttagatt atgaggctgg tactgtctcc
     1681 ttttataatg tcacaaacca tggcttcccc atctacactt tctctaaata ttactttccc
     1741 actactcttt gtccatattt taatccttgc aactgtgtaa ttcctatgac cctgcgtcgt
     1801 ccaagctctt gaatattctt ctgttcccac ccacttctga taagtaccct gaggcttatc
     1861 agcatgtgat tctcccttct gatcttctgt ttttctgtgt tctcaattct tttgttgttt
     1921 tttggttttt gaatcttttt tgagatggaa tctcgctctg tcgcccaggc tggagtgcac
     1981 tggcgcaatc tcggctcact gcaacctctg cctcctgggt tcaagcgaac ctcctgcctc
     2041 agcatcccaa gtagctggga ttacaggcac ccaccaccat gcccaactaa tttttgtatt
     2101 tttatagaga tagggtttca ccgtgttggc caggctgatc tcgaactcct gaccgcaagt
     2161 gatccacccg cctcggtctc ccaaagtgct gggattacag atgtgagccg ccgcgcccag
     2221 acagttcttt cgttttaaac agttactcag tactaggatg cacccagtgg tgagagtaag
     2281 catctttgac tgatgacagg tcttgaggtg gatagggggc gctttcagta ttttgccatt
     2341 aagcatagta tttgatgcag gttttttttg attgatgcag gggatcaaat ttaggaagtt
     2401 ctgatctgtt aatttactac aagtttttgt ataaaatgaa aactcgtatt ctacctatgt
     2461 cttttctgta aattattgag acaattgtgt atcatttttg ttctgttaat gtggcttagt
     2521 acattgattt acttcaattt gttaccacaa cttgctgaaa tacaccatta ttatttgttg
     2581 tatgcaatac tggatttatt ttgataacgt attgtttaga ttttgttctc atctatgtta
     2641 atgaaagaaa ttggcctgta tttttacatt cttgtaatat ctttgccagg ttctataaaa
     2701 tgcaataata agcaaataaa ttactttgtt tttgtataag tatgtatagg attgagctct
     2761 aaaaccaaac cattataatg ataatttggg tagcttcaaa ctcaaattga agagagtctt
     2821 cactacaatc ttcactacaa cctttggcct tcctctctac atttaagagt agcaatagaa
     2881 caataaaaaa aaatacgtct ttcaaattaa ttgcagtaaa aacaaaagag tagtggggag
     2941 agaaaaacaa tccaatacat atttttctct cagaatagaa agaaaacaca aagagaaaat
     3001 atgaacaata taaagcactt aaaggaagag gatgatttct tccagctttt ccacactctc
     3061 tttatgcgca ggaacaaaca gctgttgagt gagctgctat gactttggta gagaggtgca
     3121 atatgttttt tgaaccagct ataaaagaaa ttaagaggta catgtgaggg tagaaacaaa
     3181 tatcaaggat gagaatggca ctggctgtcc catatggtat ccaggagcca ccaatgtctg
     3241 ttgagtactt catacatgcc tagtctgaat tgagatgtgc tcaatgtata aaatatatac
     3301 cagatttcaa atacctactt caaaaaataa tgtaaaatat ctcactaata acttttcctt
     3361 tgtgtattgc aatgataata tgttggctct attggattaa ataaagtatg ttattcattt
     3421 ta
//
LOCUS       NM_001003841            5168 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens solute carrier family 6 member 19 (SLC6A19), mRNA.
ACCESSION   NM_001003841
VERSION     NM_001003841.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5168)
  AUTHORS   Zhang Q, Gefter J, Sneddon WB, Mamonova T and Friedman PA.
  TITLE     ACE2 interaction with cytoplasmic PDZ protein enhances SARS-CoV-2
            invasion
  JOURNAL   iScience 24 (7), 102770 (2021)
   PUBMED   34189428
REFERENCE   2  (bases 1 to 5168)
  AUTHORS   Yan R, Zhang Y, Li Y, Ye F, Guo Y, Xia L, Zhong X, Chi X and Zhou Q.
  TITLE     Structural basis for the different states of the spike protein of
            SARS-CoV-2 in complex with ACE2
  JOURNAL   Cell Res 31 (6), 717-719 (2021)
   PUBMED   33737693
REFERENCE   3  (bases 1 to 5168)
  AUTHORS   Ferreira-Duarte M, Estevinho MM, Duarte-Araujo M, Magro F and Morato
            M.
  TITLE     Unraveling the Role of ACE2, the Binding Receptor for SARS-CoV-2, in
            Inflammatory Bowel Disease
  JOURNAL   Inflamm Bowel Dis 26 (12), 1787-1795 (2020)
   PUBMED   33064147
  REMARK    GeneRIF: Unraveling the Role of ACE2, the Binding Receptor for
            SARS-CoV-2, in Inflammatory Bowel Disease. Review article
REFERENCE   4  (bases 1 to 5168)
  AUTHORS   Yan R, Zhang Y, Li Y, Xia L, Guo Y and Zhou Q.
  TITLE     Structural basis for the recognition of SARS-CoV-2 by full-length
            human ACE2
  JOURNAL   Science 367 (6485), 1444-1448 (2020)
   PUBMED   32132184
  REMARK    GeneRIF: The ACE2-B0AT1 complex exists as a dimer of heterodimers.
            Structural alignment of the RBD-ACE2-B0AT1 ternary complex with the
            S protein of SARS-CoV-2 suggests that two S protein trimers can
            simultaneously bind to an ACE2 homodimer.
REFERENCE   5  (bases 1 to 5168)
  AUTHORS   Cai K, Wang J, Eissman J, Wang J, Nwosu G, Shen W, Liang HC, Li XJ,
            Zhu HX, Yi YH, Song J, Xu D, Delpire E, Liao WP, Shi YW and Kang JQ.
  TITLE     A missense mutation in SLC6A1 associated with Lennox-Gastaut
            syndrome impairs GABA transporter 1 protein trafficking and function
  JOURNAL   Exp Neurol 320, 112973 (2019)
   PUBMED   31176687
  REMARK    GeneRIF: discovered a heterozygous missense mutation (c700G to A
            [pG234S) in the SLC6A1 encoding GABA transporter 1
REFERENCE   6  (bases 1 to 5168)
  AUTHORS   Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave
            MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A,
            Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P,
            Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai
            Y, Verrey F, Gahl WA and Koizumi A.
  TITLE     Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder
  JOURNAL   Nat Genet 36 (9), 999-1002 (2004)
   PUBMED   15286787
REFERENCE   7  (bases 1 to 5168)
  AUTHORS   Broer A, Klingel K, Kowalczuk S, Rasko JE, Cavanaugh J and Broer S.
  TITLE     Molecular cloning of mouse amino acid transport system B0, a neutral
            amino acid transporter related to Hartnup disorder
  JOURNAL   J Biol Chem 279 (23), 24467-24476 (2004)
   PUBMED   15044460
REFERENCE   8  (bases 1 to 5168)
  AUTHORS   Nozaki J, Dakeishi M, Ohura T, Inoue K, Manabe M, Wada Y and Koizumi
            A.
  TITLE     Homozygosity mapping to chromosome 5p15 of a gene responsible for
            Hartnup disorder
  JOURNAL   Biochem Biophys Res Commun 284 (2), 255-260 (2001)
   PUBMED   11394870
REFERENCE   9  (bases 1 to 5168)
  AUTHORS   Pan M and Stevens BR.
  TITLE     Differentiation- and protein kinase C-dependent regulation of
            alanine transport via system B
  JOURNAL   J Biol Chem 270 (8), 3582-3587 (1995)
   PUBMED   7876094
  REMARK    GeneRIF: Functional characterization of sodium-coupled neutral
            'amino acid transport system B' in apical brush border membrane of
            an intact intestinal cell.
REFERENCE   10  (bases 1 to 5168)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK290811.1, AY591756.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related         :: involved in SARS-CoV-2 infection
            MANE Ensembl match :: ENST00000304460.11/ ENSP00000305302.10
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290811.1, AY596807.1,
            AC114291.2 and AI015994.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001003841.2.
            Summary: This gene encodes a system B(0) transmembrane protein that
            actively transports most neutral amino acids across the apical
            membrane of epithelial cells. Mutations in this gene may result in
            Hartnup disorder, an inherited disease with symptoms such as
            pellagra, cerebellar ataxia, and psychosis. The expression and
            function of B0AT1 (SLC6A19) in intestinal cells depends on the
            presence of the accessory protein angiotensin-converting enzyme 2
            (ACE2) which, among other functions, acts as a chaperone for
            membrane trafficking of B0AT1. The ACE2 is also the cellular
            receptor for severe acute respiratory syndrome-coronavirus
            (SARS-CoV) and for SARS-CoV-2 that is causing the coronavirus 2019
            (COVID-19) pandemic [provided by RefSeq, Jul 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5168
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     gene            1..5168
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="solute carrier family 6 member 19"
                     /db_xref="GeneID:340024"
                     /db_xref="HGNC:HGNC:27960"
                     /db_xref="MIM:608893"
     CDS             57..1961
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="solute carrier family 6 (neurotransmitter
                     transporter), member 19; sodium-dependent amino acid
                     transporter system B0; solute carrier family 6 (neutral
                     amino acid transporter), member 19; system B0 neutral amino
                     acid transporter; system B(0) neutral amino acid
                     transporter AT1; broad neutral amino acid transporter 1"
                     /codon_start=1
                     /product="sodium-dependent neutral amino acid transporter
                     B(0)AT1"
                     /protein_id="NP_001003841.1"
                     /db_xref="CCDS:CCDS34130.1"
                     /db_xref="GeneID:340024"
                     /db_xref="HGNC:HGNC:27960"
                     /db_xref="MIM:608893"
                     /translation="MVRLVLPNPGLDARIPSLAELETIEQEEASSRPKWDNKAQYMLTC
                     LGFCVGLGNVWRFPYLCQSHGGGAFMIPFLILLVLEGIPLLYLEFAIGQRLRRGSLGVW
                     SSIHPALKGLGLASMLTSFMVGLYYNTIISWIMWYLFNSFQEPLPWSDCPLNENQTGYV
                     DECARSSPVDYFWYRETLNISTSISDSGSIQWWMLLCLACAWSVLYMCTIRGIETTGKA
                     VYITSTLPYVVLTIFLIRGLTLKGATNGIVFLFTPNVTELAQPDTWLDAGAQVFFSFSL
                     AFGGLISFSSYNSVHNNCEKDSVIVSIINGFTSVYVAIVVYSVIGFRATQRYDDCFSTN
                     ILTLINGFDLPEGNVTQENFVDMQQRCNASDPAAYAQLVFQTCDINAFLSEAVEGTGLA
                     FIVFTEAITKMPLSPLWSVLFFIMLFCLGLSSMFGNMEGVVVPLQDLRVIPPKWPKEVL
                     TGLICLGTFLIGFIFTLNSGQYWLSLLDSYAGSIPLLIIAFCEMFSVVYVYGVDRFNKD
                     IEFMIGHKPNIFWQVTWRVVSPLLMLIIFLFFFVVEVSQELTYSIWDPGYEEFPKSQKI
                     SYPNWVYVVVVIVAGVPSLTIPGYAIYKLIRNHCQKPGDHQGLVSTLSTASMNGDLKY"
     misc_feature    105..107
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D687; propagated from
                     UniProtKB/Swiss-Prot (Q695T7.1); phosphorylation site"
     misc_feature    180..242
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="propagated from UniProtKB/Swiss-Prot (Q695T7.1);
                     transmembrane region"
     misc_feature    258..320
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="propagated from UniProtKB/Swiss-Prot (Q695T7.1);
                     transmembrane region"
     misc_feature    417..479
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="propagated from UniProtKB/Swiss-Prot (Q695T7.1);
                     transmembrane region"
     misc_feature    528..530
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q695T7.1); glycosylation site"
     misc_feature    600..602
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q695T7.1); glycosylation site"
     misc_feature    633..695
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="propagated from UniProtKB/Swiss-Prot (Q695T7.1);
                     transmembrane region"
     misc_feature    720..782
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="propagated from UniProtKB/Swiss-Prot (Q695T7.1);
                     transmembrane region"
     misc_feature    828..830
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q695T7.1); glycosylation site"
     misc_feature    861..923
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="propagated from UniProtKB/Swiss-Prot (Q695T7.1);
                     transmembrane region"
     misc_feature    969..1031
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="propagated from UniProtKB/Swiss-Prot (Q695T7.1);
                     transmembrane region"
     misc_feature    1116..1118
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q695T7.1); glycosylation site"
     misc_feature    1158..1160
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q695T7.1); glycosylation site"
     misc_feature    1296..1358
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="propagated from UniProtKB/Swiss-Prot (Q695T7.1);
                     transmembrane region"
     misc_feature    1425..1487
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="propagated from UniProtKB/Swiss-Prot (Q695T7.1);
                     transmembrane region"
     misc_feature    1527..1589
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="propagated from UniProtKB/Swiss-Prot (Q695T7.1);
                     transmembrane region"
     misc_feature    1650..1712
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="propagated from UniProtKB/Swiss-Prot (Q695T7.1);
                     transmembrane region"
     misc_feature    1800..1862
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="propagated from UniProtKB/Swiss-Prot (Q695T7.1);
                     transmembrane region"
     misc_feature    1935..1937
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D687; propagated from
                     UniProtKB/Swiss-Prot (Q695T7.1); phosphorylation site"
     regulatory      4415..4420
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="hexamer: AATAAA"
     polyA_site      4442
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
     regulatory      5143..5148
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="hexamer: AATAAA"
     polyA_site      5168
                     /gene="SLC6A19"
                     /gene_synonym="B0AT1; HND"
                     /note="major polyA site"
ORIGIN
        1 actcgccctc cagcttctgc cctgcctgct gtgtgcggag ccgtccagcg accaccatgg
       61 tgaggctcgt gctgcccaac cccggcctag acgcccggat cccgtccctg gctgagctgg
      121 agaccatcga gcaggaggag gccagctccc ggccgaagtg ggacaacaag gcgcagtaca
      181 tgctcacctg cctgggcttc tgcgtgggcc tcggcaacgt gtggcgcttc ccctacctgt
      241 gtcagagcca cggaggagga gccttcatga tcccgttcct catcctgctg gtcctggagg
      301 gcatccccct gctgtacctg gagttcgcca tcgggcagcg gctgcggcgg ggcagcctgg
      361 gtgtgtggag ctccatccac ccggccctga agggcctagg cctggcctcc atgctcacgt
      421 ccttcatggt gggactgtat tacaacacca tcatctcctg gatcatgtgg tacttattca
      481 actccttcca ggagcctctg ccctggagcg actgcccgct caacgagaac cagacagggt
      541 atgtggacga gtgcgccagg agctcccctg tggactactt ctggtaccga gagacgctca
      601 acatctccac gtccatcagc gactcgggct ccatccagtg gtggatgctg ctgtgcctgg
      661 cctgcgcatg gagcgtcctg tacatgtgca ccatccgcgg catcgagacc accgggaagg
      721 ccgtgtacat cacctccacg ctgccctatg tcgtcctgac catcttcctc atccgaggcc
      781 tgacgctgaa gggcgccacc aatggcatcg tcttcctctt cacgcccaac gtcacggagc
      841 tggcccagcc ggacacctgg ctggacgcgg gcgcacaggt cttcttctcc ttctccctgg
      901 ccttcggggg cctcatctcc ttctccagct acaactctgt gcacaacaac tgcgagaagg
      961 actcggtgat tgtgtccatc atcaacggct tcacatcggt gtatgtggcc atcgtggtct
     1021 actccgtcat tgggttccgc gccacacagc gctacgacga ctgcttcagc acgaacatcc
     1081 tgaccctcat caacgggttc gacctgcctg aaggcaacgt gacccaggag aactttgtgg
     1141 acatgcagca gcggtgcaac gcctccgacc ccgcggccta cgcgcagctg gtgttccaga
     1201 cctgcgacat caacgccttc ctctcagagg ccgtggaggg cacaggcctg gccttcatcg
     1261 tcttcaccga ggccatcacc aagatgccgt tgtccccact gtggtctgtg ctcttcttca
     1321 ttatgctctt ctgcctgggg ctgtcatcta tgtttgggaa catggagggc gtcgttgtgc
     1381 ccctgcagga cctcagagtc atccccccga agtggcccaa ggaggtgctc acaggcctca
     1441 tctgcctggg gacattcctc attggcttca tcttcacgct gaactccggc cagtactggc
     1501 tctccctgct ggacagctat gccggctcca ttcccctgct catcatcgcc ttctgcgaga
     1561 tgttctctgt ggtctacgtg tacggtgtgg acaggttcaa taaggacatc gagttcatga
     1621 tcggccacaa gcccaacatc ttctggcaag tcacgtggcg cgtggtcagc cccctgctca
     1681 tgctgatcat cttcctcttc ttcttcgtgg tagaggtcag tcaggagctg acctacagca
     1741 tctgggaccc tggctacgag gaatttccca aatcccagaa gatctcctac ccgaactggg
     1801 tgtatgtggt ggtggtgatt gtggctggag tgccctccct caccatccct ggctatgcca
     1861 tctacaagct catcaggaac cactgccaga agccagggga ccatcagggg ctggtgagca
     1921 cactgtccac agcctccatg aacggggacc tgaagtactg agaaggccca tcccacggcg
     1981 tgccatacac tggtgtcagg gaaggaggaa ccagcaagac ctgtggggtg ggggccgggc
     2041 tgcacctgca tgtgtgtaag cgtgagtgta tgctcgtgtg tgagtgtgtg tattgtacac
     2101 gcatgtgcca tgtgtgcaga tatgtatcgt gtgtgcatgt acatgcatgg gcactgtgtg
     2161 agtgtgcacg tgtatgcaca catatacatg tgtgtgggtg tgtgtattgt atgtgcatgt
     2221 gccatgtgtg cagatgtgtc atgttgtgtg tgtgcatgta catgtatgga cattgtgtga
     2281 gtgtgcaagt gtgcatgcat atacatgtgt gcgatatttg ctgcccgtgt gtgtgcatgt
     2341 atatatagac atacatgcct atgttgtgtg tggtgtgcat atgtgtgaac acacacgtgt
     2401 atacatgcat gcacatgtgc tcgtacaatg ggtgtccaca tgcacgtgta tatgtatatc
     2461 tgtgagtgta tatacatgca tgcaattgtg tgtatgtgtg ttctgtgtgt gcgtttgcaa
     2521 gtatatatgc acatgtgtat atgtacatgt atgcctgtgt gacgtgtgta tatgtgagca
     2581 tgtgtacgtg tgtgtatacg tgtgttgtgt atatgtgtgt gtctgtacct gtttgtgtat
     2641 atgtgtgtga tgtgtgctcg tgtgtgtgca tattcaggca ggtgtgcatt tgtgcatgcc
     2701 agtgtgtatg tatgtgcgca tatggacacg catggacacg catatggaca catatggaca
     2761 cacatatgga cacgtgtgga tatgtgtgcg tacacgtcgc tgggacacat gcctgccact
     2821 cggggcccag ctgccctctg tgtttgtcct tgccacagtc acggggtgca tgtgcagagg
     2881 ggagcagacc actggggacg tgctgtgccc tgcacgtgcc cgggggaagc ggaagctgca
     2941 gctggggtgg gggcagcacc tctatgcttc atctctgtgg gtggcaggag acaaaagcac
     3001 agggtactat cttggctcct gggagcgact cttgctaccc acccccaccc atccccttcc
     3061 ccttggtgtt gacctttgac ctgggggttc ccagagccct gtagccctcg acccggagca
     3121 gcctctcgga agccggagtg ggcagttgct ggcgattctg agaaaacttg gccgcatcca
     3181 ccggggccct gcctccagtc ggccgctgcc gagtctctgc gttctggccg cttcccggct
     3241 taatgaatgc cagccattta atcattgctc ctgccaccac aaatagatga gcagttaaat
     3301 aaaactcaac ttggcataat tcaaggcaaa taccactctg tgcattttct taagaggaca
     3361 tgagctgtgt gaatttttag ccagcctttg gaaaagatgg gttacagggt aactcaaccc
     3421 tggctgccat ccttgggcac tgtgtgtgtc cagggcacct tggaggaccg tgcagccccc
     3481 agaagcttcc agctcccgca ccactcagtg aagcccagcc tggcgcctgc cctgcccccg
     3541 tcacgggatg ggcccccatt ggggttcaac attccatcgc agccaaaggc agtcggcact
     3601 tgggacatct gcttccacgg acaggtcacc tccgctttgc acggaagaat ctggatgctt
     3661 acattaaact ggtgttctga gagttcctac ggacaggtca cctccgcttt gcatggaaga
     3721 atctggatgc ttacattaaa ctggtgttct gagagttcct acggacaggt cacctctgct
     3781 ttccatagaa gaatctggac gcttacatta aactgatgtt ctgagaattc ctacaggcag
     3841 gactgaaagc ctggtgtgtg ccagtatgat gttccaccca cagaaacctg gtcacaatcg
     3901 tcccttccag caccccatcc agcagtgact gcacacactg agtcccctac cagccccttt
     3961 caccctgctg actgtcactg ggccctggga tgcgcaagac tccacagcag cagaggtggg
     4021 gggacatatc acagcctctg cccccggctg tgatgccacc gaggggctcg cctgctgatg
     4081 gcttcaacag ggtctcacct catcttttcc tgctctttgg ccctggatcg agaaaatttc
     4141 catcagtgcc ccattaatat gctgccctgt ggcatctgcc caggaggccc tgccaggcgt
     4201 gcacaggtgt gcattggtgt accctggcat gcacaggtgt gcactgatgt gccctggcat
     4261 ccattggtgt accctggtgt gcctgccata ggaccctggg cgggagctcc catctcatct
     4321 acatctcctg attcatgcgt tgtttcatag gtttcaatgt ctctgtaaat gtggtagaaa
     4381 tgcaggcttt atgggcataa agtgtacatt tctaaataaa tcccttctat tgagtatgct
     4441 caccctagaa gttactgttg tccagacgta gagggatgag tgagccagtg acctcagacg
     4501 ggatggtggg gacggcaggt ccagctcctg cctcctcctg gggggtctgg ctttgggggc
     4561 ttgctccgaa gaggccatgg cccaggcctg tggcctcaca atggggacca accagctctt
     4621 ctcatcttct tccctcacac ttcctctcac tcaaataaga accttccaaa aatgtgtcca
     4681 cctgggcccc tgccctggga ctcatggatt tggagttgtg gccacacggt tgaggggtgc
     4741 agtgtccagt ggaatggggc aattgcgggc ctgggggccc ttggcctgtc cgtggcggga
     4801 gcatctgcaa ggaggagccc cagagtccag ggagcactgt ggggagctcc ttagagctga
     4861 actcacccgg cgtcaactca tcaaccctcc acccatggac aggggtgccc ccagcacagg
     4921 agaggactca gccctctgcc cccacgcacg gtgggtgcct gtcaccctgt cctgcccagc
     4981 ggcccgaggg cagcagtggg tgtgagggca gcccccggcc tcccaagagc agctgagagg
     5041 atccctgcgg gaatccgggc ttcgggtgca tgcgatctga tctgagttgt ttctgacagt
     5101 gacagagtga caatctataa gtatctcaag atcaaatggt taaataaaac ataagaaatt
     5161 taaaacga
//
LOCUS       NM_001003845            2047 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens Sp5 transcription factor (SP5), mRNA.
ACCESSION   NM_001003845
VERSION     NM_001003845.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2047)
  AUTHORS   Zhi Y, Gao Q, Wang Z, Dong Y, Guan Y, Yuan J and Zhang Z.
  TITLE     Circular RNA circSP5 promotes liver metastasis of colorectal cancer
            via SP5-mediated BAMBI transcription
  JOURNAL   Funct Integr Genomics 23 (3), 275 (2023)
   PUBMED   37596430
  REMARK    GeneRIF: Circular RNA circSP5 promotes liver metastasis of
            colorectal cancer via SP5-mediated BAMBI transcription. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 2047)
  AUTHORS   Huggins IJ, Bos T, Gaylord O, Jessen C, Lonquich B, Puranen A,
            Richter J, Rossdam C, Brafman D, Gaasterland T and Willert K.
  TITLE     The WNT target SP5 negatively regulates WNT transcriptional programs
            in human pluripotent stem cells
  JOURNAL   Nat Commun 8 (1), 1034 (2017)
   PUBMED   29044119
  REMARK    GeneRIF: SP5 negatively regulates WNT3a transcriptional programs in
            human pluripotent stem cells. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2047)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   4  (bases 1 to 2047)
  AUTHORS   Chen Y, Guo Y, Ge X, Itoh H, Watanabe A, Fujiwara T, Kodama T and
            Aburatani H.
  TITLE     Elevated expression and potential roles of human Sp5, a member of Sp
            transcription factor family, in human cancers
  JOURNAL   Biochem Biophys Res Commun 340 (3), 758-766 (2006)
   PUBMED   16380080
  REMARK    GeneRIF: human Sp5 is a member of Sp transcription factor family
            with a role in human cancers
REFERENCE   5  (bases 1 to 2047)
  AUTHORS   Suske G, Bruford E and Philipsen S.
  TITLE     Mammalian SP/KLF transcription factors: bring in the family
  JOURNAL   Genomics 85 (5), 551-556 (2005)
   PUBMED   15820306
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB096175.1, DRR138524.1160346.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375281.4/ ENSP00000364430.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007405.6, CN275885.1, AB096175.1, BQ064677.1 and AW450640.1.
            On May 17, 2019 this sequence version replaced NM_001003845.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2047
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..2047
                     /gene="SP5"
                     /note="Sp5 transcription factor"
                     /db_xref="GeneID:389058"
                     /db_xref="HGNC:HGNC:14529"
                     /db_xref="MIM:609391"
     CDS             177..1373
                     /gene="SP5"
                     /codon_start=1
                     /product="transcription factor Sp5"
                     /protein_id="NP_001003845.1"
                     /db_xref="CCDS:CCDS33322.1"
                     /db_xref="GeneID:389058"
                     /db_xref="HGNC:HGNC:14529"
                     /db_xref="MIM:609391"
                     /translation="MAAVAVLRNDSLQAFLQDRTPSASPDLGKHSPLALLAATCSRIGQ
                     PGAAAPPDFLQVPYDPALGSPSRLFHPWTADMPAHSPGALPPPHPSLGLTPQKTHLQPS
                     FGAAHELPLTPPADPSYPYEFSPVKMLPSSMAALPASCAPAYVPYAAQAALPPGYSNLL
                     PPPPPPPPPPTCRQLSPNPAPDDLPWWSIPQAGAGPGASGVPGSGLSGACAGAPHAPRF
                     PASAAAAAAAAAALQRGLVLGPSDFAQYQSQIAALLQTKAPLAATARRCRRCRCPNCQA
                     AGGAPEAEPGKKKQHVCHVPGCGKVYGKTSHLKAHLRWHTGERPFVCNWLFCGKSFTRS
                     DELQRHLRTHTGEKRFACPECGKRFMRSDHLAKHVKTHQNKKLKVAEAGVKREDARDL"
     misc_feature    654..788
                     /gene="SP5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6BEB4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    735..761
                     /gene="SP5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6BEB4.1);
                     Region: 9aaTAD. /evidence=ECO:0000269|PubMed:31375868"
     regulatory      1827..1832
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SP5"
                     /note="hexamer: AATAAA"
     polyA_site      1857
                     /gene="SP5"
     regulatory      1913..1918
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SP5"
                     /note="hexamer: AATAAA"
     polyA_site      1957
                     /gene="SP5"
                     /note="major polyA site"
ORIGIN
        1 agaccgcgcg cggggcgagc gagcggggcg cggcgagggg caagggcggg gagggccccg
       61 gcgctcagag caggcgccag ggaggcaggc tgggcggccc ttcgtcctcg ccttcgggtg
      121 tccatgcctc ggcggcggcg tcccgctccg cagccagggg cctgcaagcc gtagccatgg
      181 ccgcggtggc cgtcctccgg aacgactcgc tgcaggcctt tctccaggac cgcaccccca
      241 gcgcctcccc ggacctgggc aagcactcgc ccctggcatt gctggccgcc acctgtagcc
      301 gcatcggcca gccgggcgcg gcggcgcccc cggacttcct gcaggtgccc tacgaccccg
      361 cgctgggctc accctccagg ctcttccacc cgtggaccgc cgacatgccg gcgcactcgc
      421 caggcgcact gccgcccccg catcccagct tggggctgac gccgcagaag acgcacctgc
      481 agccgtcctt cggggctgcg cacgagcttc cccttacacc ccccgccgac ccctcgtacc
      541 cctacgagtt ctcgccggtc aagatgctgc cctcgagcat ggcggctctg cccgccagct
      601 gcgcgcccgc ctacgtgccc tacgcggcgc aggccgcgct gccgccaggc tactccaacc
      661 tgctgcctcc gccgccgcca ccgcccccgc cgcccacctg ccgccagttg tcacccaacc
      721 cggcccccga cgacctcccg tggtggagca tcccgcaggc gggcgccggg ccgggggcct
      781 ccggggttcc gggaagcggc ctctccggcg cctgtgccgg ggccccccac gcgccccgct
      841 tccccgcctc tgcggccgct gctgctgcgg ccgccgccgc cctacaaaga ggcctggtgt
      901 tgggcccgtc ggactttgcg cagtaccaga gccagatcgc cgcgctgctg cagaccaagg
      961 cccccctggc ggccacggcc aggaggtgcc gccgctgccg ctgtcccaac tgccaggcgg
     1021 cgggcggcgc ccccgaggcg gagccgggga agaagaagca gcacgtgtgc cacgtgccgg
     1081 gctgcggcaa ggtgtacggg aagacgtcgc acctgaaggc gcacctgcgc tggcacacgg
     1141 gcgagcgacc cttcgtgtgc aactggctct tctgcgggaa gagcttcacg cgctcggacg
     1201 agctgcagcg gcacctgcgg actcacacgg gcgagaagcg ctttgcctgt cccgagtgcg
     1261 gcaagcgctt catgcgcagc gaccacctcg cgaagcacgt caagactcac cagaataaga
     1321 agctcaaagt cgctgaggcc ggggttaagc gggaggacgc gcgggacctg tgagccctcc
     1381 cggaggtgga cccccttccc agcacctctg cgagagatcc ggggacctgt gggcagctgg
     1441 cggaggggag actcagcaga cggaccctct ccgttgcctg cctcccaaaa tggagccagg
     1501 cttccaactt ccgctgcctt cggacatagg gacccagttc ccaggagcgg ggaggtaggg
     1561 ttggggctgg ggcatttgga ttgtaattgg gagctctgcc gtacgccagg gcggttccaa
     1621 actctaaacc gttcccaccg tcagggagac ctacagtttc gggggaccac cctggtctgg
     1681 ccttgtatat aggaaatgct gctgaactga atagaaagga acttgggaga tttgaaacag
     1741 tgctcgggtt ttcgctagga ccggtttggg ctttgtacag gttatttaat agctttgtta
     1801 aagataatta taataattat aacattaata aaaatgttgc ttttgtcttc agctccatgc
     1861 agagctacag catgatatgt ctctgtaaag tgatcagcag ttgcagcgtg aaaataaata
     1921 ctttaactca ggggtcacta caggaagacc ccgttgagcc ggtctcattt gatcttttct
     1981 tcttctgggt ggctgtacta agcggtcggg tttccccggg aatttgatgg ttcctatagt
     2041 ctgcctg
//
LOCUS       NM_001003891            3351 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens mediator complex subunit 15 (MED15), transcript variant
            1, mRNA.
ACCESSION   NM_001003891
VERSION     NM_001003891.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3351)
  AUTHORS   Doytcheva K, Gallan AJ, Wang P, Wanjari P, Segal J and Antic T.
  TITLE     Cystic MED15::TFE3 translocation renal cell carcinoma: histologic
            mimicker of multilocular cystic renal neoplasm of low malignant
            potential with review of the literature
  JOURNAL   Hum Pathol 136, 25-33 (2023)
   PUBMED   36997032
  REMARK    GeneRIF: Cystic MED15::TFE3 translocation renal cell carcinoma:
            histologic mimicker of multilocular cystic renal neoplasm of low
            malignant potential with review of the literature. Review article
REFERENCE   2  (bases 1 to 3351)
  AUTHORS   Sanborn AL, Yeh BT, Feigerle JT, Hao CV, Townshend RJ, Lieberman
            Aiden E, Dror RO and Kornberg RD.
  TITLE     Simple biochemical features underlie transcriptional activation
            domain diversity and dynamic, fuzzy binding to Mediator
  JOURNAL   Elife 10, e68068 (2021)
   PUBMED   33904398
  REMARK    GeneRIF: Simple biochemical features underlie transcriptional
            activation domain diversity and dynamic, fuzzy binding to Mediator.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3351)
  AUTHORS   Batlle C, Calvo I, Iglesias V, J Lynch C, Gil-Garcia M, Serrano M
            and Ventura S.
  TITLE     MED15 prion-like domain forms a coiled-coil responsible for its
            amyloid conversion and propagation
  JOURNAL   Commun Biol 4 (1), 414 (2021)
   PUBMED   33772081
  REMARK    GeneRIF: MED15 prion-like domain forms a coiled-coil responsible for
            its amyloid conversion and propagation. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3351)
  AUTHORS   Elahi M and Rakhshan V.
  TITLE     MED15, transforming growth factor beta 1 (TGF-beta1), FcgammaRIII
            (CD16), and HNK-1 (CD57) are prognostic biomarkers of oral squamous
            cell carcinoma
  JOURNAL   Sci Rep 10 (1), 8475 (2020)
   PUBMED   32439976
  REMARK    GeneRIF: MED15, transforming growth factor beta 1 (TGF-beta1),
            FcgammaRIII (CD16), and HNK-1 (CD57) are prognostic biomarkers of
            oral squamous cell carcinoma. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3351)
  AUTHORS   Ye H, Qin S, Li N, Lin M, Xu Y and Li X.
  TITLE     A Rare Partner of TFE3 in the Xp11 Translocation Renal Cell
            Carcinoma: Clinicopathological Analyses and Detection of MED15-TFE3
            Fusion
  JOURNAL   Biomed Res Int 2019, 5974089 (2019)
   PUBMED   31828108
  REMARK    GeneRIF: In this article, we described MED15-TFE3 renal cell
            carcinoma (RCC), a rare gene subtype of Xp11 translocation RCCs,
            that was confirmed by FISH and RNA sequencing. The tumor
            demonstrated different morphological features and immunophenotypic
            characteristics with the cases reported in literatures, expanding
            our understanding on heterogeneity of MED15-TFE3 RCC. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 3351)
  AUTHORS   Mittler G, Kremmer E, Timmers HT and Meisterernst M.
  TITLE     Novel critical role of a human Mediator complex for basal RNA
            polymerase II transcription
  JOURNAL   EMBO Rep 2 (9), 808-813 (2001)
   PUBMED   11559591
REFERENCE   7  (bases 1 to 3351)
  AUTHORS   Berti L, Mittler G, Przemeck GK, Stelzer G, Gunzler B, Amati F,
            Conti E, Dallapiccola B, Hrabe de Angelis M, Novelli G and
            Meisterernst M.
  TITLE     Isolation and characterization of a novel gene from the DiGeorge
            chromosomal region that encodes for a mediator subunit
  JOURNAL   Genomics 74 (3), 320-332 (2001)
   PUBMED   11414760
REFERENCE   8  (bases 1 to 3351)
  AUTHORS   Abraham S and Solomon WB.
  TITLE     A novel glutamine-rich putative transcriptional adaptor protein
            (TIG-1), preferentially expressed in placental and bone-marrow
            tissues
  JOURNAL   Gene 255 (2), 389-400 (2000)
   PUBMED   11024300
REFERENCE   9  (bases 1 to 3351)
  AUTHORS   Naar AM, Beaurang PA, Zhou S, Abraham S, Solomon W and Tjian R.
  TITLE     Composite co-activator ARC mediates chromatin-directed
            transcriptional activation
  JOURNAL   Nature 398 (6730), 828-832 (1999)
   PUBMED   10235267
  REMARK    GeneRIF: The protein encoded by this gene was identified as ARC105,
            a 105kDa component of the Activator-Recruited Cofactor (ARC) that is
            involved in mediating gene activation by several classes of
            transcriptional regulators.
REFERENCE   10  (bases 1 to 3351)
  AUTHORS   Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel TS,
            Stine OC, Callahan C, McInnis MG and Ross CA.
  TITLE     cDNAs with long CAG trinucleotide repeats from human brain
  JOURNAL   Hum Genet 100 (1), 114-122 (1997)
   PUBMED   9225980
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK090465.1, SRR11853563.21350.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000263205.11/ ENSP00000263205.7
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK090465.1, BC003078.1 and
            BC005027.1.
            On Nov 22, 2018 this sequence version replaced NM_001003891.2.
            Summary: The protein encoded by this gene is a subunit of the
            multiprotein complexes PC2 and ARC/DRIP and may function as a
            transcriptional coactivator in RNA polymerase II transcription.
            This gene contains stretches of trinucleotide repeats and is
            located in the chromosome 22 region which is deleted in DiGeorge
            syndrome. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jun 2014].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3351
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..3351
                     /gene="MED15"
                     /gene_synonym="ARC105; CAG7A; CTG7A; PCQAP; TIG-1; TIG1;
                     TNRC7"
                     /note="mediator complex subunit 15"
                     /db_xref="GeneID:51586"
                     /db_xref="HGNC:HGNC:14248"
                     /db_xref="MIM:607372"
     CDS             70..2436
                     /gene="MED15"
                     /gene_synonym="ARC105; CAG7A; CTG7A; PCQAP; TIG-1; TIG1;
                     TNRC7"
                     /note="isoform a is encoded by transcript variant 1;
                     PC2-glutamine-rich-associated protein; trinucleotide repeat
                     containing 7; TPA inducible gene-1; PC2 (positive cofactor
                     2, multiprotein complex) glutamine/Q-rich-associated
                     protein; TPA inducible protein; activator-recruited
                     cofactor, 105-kD; CTG repeat protein 7a; mediator of RNA
                     polymerase II transcription subunit 15; positive cofactor
                     2, glutamine/Q-rich-associated protein; TPA-inducible gene
                     1 protein; PC2 glutamine/Q-rich-associated protein;
                     activator-recruited cofactor 105 kDa component;
                     trinucleotide repeat-containing gene 7 protein"
                     /codon_start=1
                     /product="mediator of RNA polymerase II transcription
                     subunit 15 isoform a"
                     /protein_id="NP_001003891.1"
                     /db_xref="CCDS:CCDS33602.1"
                     /db_xref="GeneID:51586"
                     /db_xref="HGNC:HGNC:14248"
                     /db_xref="MIM:607372"
                     /translation="MDVSGQETDWRSTAFRQKLVSQIEDAMRKAGVAHSKSSKDMESHV
                     FLKAKTRDEYLSLVARLIIHFRDIHNKKSQASVSDPMNALQSLTGGPAAGAAGIGMPPR
                     GPGQSLGGMGSLGAMGQPMSLSGQPPPGTSGMAPHSMAVVSTATPQTQLQLQQVALQQQ
                     QQQQQFQQQQQAALQQQQQQQQQQQFQAQQSAMQQQFQAVVQQQQQLQQQQQQQQHLIK
                     LHHQNQQQIQQQQQQLQRIAQLQLQQQQQQQQQQQQQQQQALQAQPPIQQPPMQQPQPP
                     PSQALPQQLQQMHHTQHHQPPPQPQQPPVAQNQPSQLPPQSQTQPLVSQAQALPGQMLY
                     TQPPLKFVRAPMVVQQPPVQPQVQQQQTAVQTAQAAQMVAPGVQMITEALAQGGMHIRA
                     RFPPTTAVSAIPSSSIPLGRQPMAQVSQSSLPMLSSPSPGQQVQTPQSMPPPPQPSPQP
                     GQPSSQPNSNVSSGPAPSPSSFLPSPSPQPSQSPVTARTPQNFSVPSPGPLNTPVNPSS
                     VMSPAGSSQAEEQQYLDKLKQLSKYIEPLRRMINKIDKNEDRKKDLSKMKSLLDILTDP
                     SKRCPLKTLQKCEIALEKLKNDMAVPTPPPPPVPPTKQQYLCQPLLDAVLANIRSPVFN
                     HSLYRTFVPAMTAIHGPPITAPVVCTRKRRLEDDERQSIPSVLQGEVARLDPKFLVNLD
                     PSHCSNNGTVHLICKLDDKDLPSVPPLELSVPADYPAQSPLWIDRQWQYDANPFLQSVH
                     RCMTSRLLQLPDKHSVTALLNTWAQSVHQACLSAA"
     misc_feature    94..288
                     /gene="MED15"
                     /gene_synonym="ARC105; CAG7A; CTG7A; PCQAP; TIG-1; TIG1;
                     TNRC7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RN5.2);
                     Region: Interaction with SREBF1.
                     /evidence=ECO:0000269|PubMed:16799563"
     misc_feature    352..486
                     /gene="MED15"
                     /gene_synonym="ARC105; CAG7A; CTG7A; PCQAP; TIG-1; TIG1;
                     TNRC7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RN5.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    847..1056
                     /gene="MED15"
                     /gene_synonym="ARC105; CAG7A; CTG7A; PCQAP; TIG-1; TIG1;
                     TNRC7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RN5.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1114..1116
                     /gene="MED15"
                     /gene_synonym="ARC105; CAG7A; CTG7A; PCQAP; TIG-1; TIG1;
                     TNRC7"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q924H2; propagated from
                     UniProtKB/Swiss-Prot (Q96RN5.2); methylation site"
     misc_feature    1303..1659
                     /gene="MED15"
                     /gene_synonym="ARC105; CAG7A; CTG7A; PCQAP; TIG-1; TIG1;
                     TNRC7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RN5.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1708..1761
                     /gene="MED15"
                     /gene_synonym="ARC105; CAG7A; CTG7A; PCQAP; TIG-1; TIG1;
                     TNRC7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RN5.2);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     misc_feature    1876..1878
                     /gene="MED15"
                     /gene_synonym="ARC105; CAG7A; CTG7A; PCQAP; TIG-1; TIG1;
                     TNRC7"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q96RN5.2);
                     phosphorylation site"
     regulatory      3329..3334
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MED15"
                     /gene_synonym="ARC105; CAG7A; CTG7A; PCQAP; TIG-1; TIG1;
                     TNRC7"
                     /note="hexamer: AATAAA"
     polyA_site      3351
                     /gene="MED15"
                     /gene_synonym="ARC105; CAG7A; CTG7A; PCQAP; TIG-1; TIG1;
                     TNRC7"
                     /note="major polyA site"
ORIGIN
        1 ggctctgtga ctgaggcggc ggcggtggcg gccaagcggg atacgggcgg cgggagctgg
       61 ggaacaggca tggacgtttc cgggcaagag accgactggc ggagcaccgc cttccggcag
      121 aagctggtca gtcaaatcga ggatgccatg aggaaagctg gtgtggcaca cagtaaatcc
      181 agcaaggata tggagagcca tgttttcctg aaggccaaga cccgggacga atacctttct
      241 ctcgtggcca ggctcattat ccattttcga gacattcata acaagaaatc tcaagcttcc
      301 gtcagtgatc ctatgaatgc actccagagc ctgactggcg gacctgctgc gggagccgct
      361 ggaattggca tgcctcctcg gggcccggga cagtctctgg gcgggatggg tagccttggt
      421 gccatgggac agccaatgtc tctctcaggg cagccgcctc ctgggacctc ggggatggcc
      481 cctcacagca tggctgtcgt gtctacggca actccacaga cccagctgca gctccagcag
      541 gtggcgctgc agcagcagca gcaacagcag cagttccagc agcagcagca ggcggcgcta
      601 cagcagcagc agcagcagca gcaacagcag cagttccagg ctcagcagag tgccatgcag
      661 cagcagttcc aagcagtagt gcagcagcag cagcagctcc agcagcagca gcagcagcag
      721 cagcatctaa ttaaattgca tcatcaaaat cagcaacaga tacagcagca gcaacagcag
      781 ctgcagcgaa tagcacagct gcagctccaa caacagcaac agcagcagca gcagcagcag
      841 cagcagcagc agcaggcttt gcaggcccag ccaccaattc agcagccacc gatgcagcag
      901 ccacagcctc cgccctccca ggctctgccc cagcagctgc agcagatgca tcacacacag
      961 caccaccagc cgccaccaca gccccagcag cctccagttg ctcagaacca accatcacaa
     1021 ctcccgccac agtcgcagac ccagcctttg gtgtcacagg cgcaagctct ccctggacaa
     1081 atgttgtata cccaaccacc actgaaattt gtccgagctc cgatggtggt gcagcagccc
     1141 ccagtgcagc cccaggtgca gcagcagcag acagcagtac agacagctca ggctgcccag
     1201 atggtggctc ccggagtcca gatgatcacg gaagccttgg cccaaggtgg gatgcacata
     1261 agagcccggt tcccgcctac caccgctgtg tccgccatcc cgtcaagctc catccctttg
     1321 ggcagacagc ccatggcaca ggtcagccag agcagcctcc ccatgctgtc ctcgccgtca
     1381 ccgggccagc aggtgcagac cccgcagtcg atgccccctc ccccccagcc gtccccgcag
     1441 cccggccagc ccagctcaca gcccaactcc aacgtcagct ctggccctgc cccatctccc
     1501 agtagcttcc tgcccagccc ctcaccgcag ccctcccaga gcccagtgac ggcgcggacc
     1561 ccacagaact tcagtgtccc ctcacctgga cctttaaaca cacctgtgaa ccccagctct
     1621 gtcatgagcc cagctggctc cagccaggct gaggagcagc agtacctgga caagctgaag
     1681 cagctgtcga agtacatcga gcccctgcgc cgcatgatca acaagatcga caagaacgaa
     1741 gacagaaaaa aggacctgag taagatgaag agccttctgg acattctgac agacccctcg
     1801 aagcggtgtc ccctgaagac cttgcaaaag tgtgagatcg ccctggagaa actcaagaat
     1861 gacatggcgg tgcccactcc cccaccgccc ccggtgccac cgaccaaaca gcagtaccta
     1921 tgccagccgc tcctggatgc cgtcctggcc aacatccgct cacctgtctt caaccattcc
     1981 ctgtaccgca cattcgttcc agccatgacc gccattcacg gcccacccat cacggcccca
     2041 gtggtgtgca cccggaagcg caggcttgag gatgatgagc ggcagagcat ccccagtgtg
     2101 ctccagggtg aggtggccag gctggacccc aagttcctgg taaacctgga cccttctcac
     2161 tgcagcaaca atggcactgt ccacctgatc tgcaagctgg atgacaagga cctcccaagt
     2221 gtgccaccac tggagctcag tgtgcccgct gactatcctg cccaaagccc gctgtggata
     2281 gaccggcagt ggcagtacga cgccaacccc ttcctccagt cggtgcaccg ctgcatgacc
     2341 tccaggctgc tgcagctccc ggacaagcac tcggtcaccg ccttgctcaa cacctgggcc
     2401 cagagcgtcc accaggcctg cctctcagcc gcctagccaa gactgcaggg atggcccgca
     2461 gcctcatcgg ggccaaggac acacgcctcc tgtcagacac ttctaggtgt tggcttcctt
     2521 agagagcctg gggttaggtt agctttcctg cttttatctt ctgccttggg gacctgccaa
     2581 acgaaatccc acacctgtac agaactggga taggcgcagt ggagcgggtt gcttgggggg
     2641 cgttggccga cttcttagag aaggccctcc atgtgacttc ctcccaggag ccagatgcga
     2701 tcctcaggct gctctcaccg tggcctgtcc acggtccagg tccatctcag cagcgtgagg
     2761 gtgcactcag ggtgttgtta gagcgtctcg tgtgtgctag acgcacccct actcgttcct
     2821 atagaacaca gaggacatag gaaaccctta aaacacacat gggattctct ggtcacagtt
     2881 ttgggttcag gctatgctgc tttgggcagg tggagcaccc cccgaggaag cctgcaagtc
     2941 cagggcacag gctgcctttt ggagggaggg ctggcccata ggtgctgctg gctccccgcc
     3001 accagctggg cctcagccct cacggcattc ctgctgagca ccgtggggca cccagggagc
     3061 aggggcgtca gggatcctgc tgccggcacc cctgtgccgc tggcatgagg gccgtgtccc
     3121 cactgtgaag gatgaagagc aaggccctca ggacccgtgt cctcagagca ccacacactg
     3181 agcacccaga gacagcgggc ctggcagcgg gccgggccat gcagggagcg cctccctatg
     3241 ttgcctgcca ctctgggcac cggccagcac cctctggtga gaagaggtcc ccccttttta
     3301 tgtgcactac cccaccatct gtgattataa taaatttatt attcctgtgt t
//
LOCUS       NM_001003892            1135 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens dual specificity phosphatase 29 (DUSP29), transcript
            variant 1, mRNA.
ACCESSION   NM_001003892
VERSION     NM_001003892.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1135)
  AUTHORS   Cooper LM, West RC, Hayes CS and Waddell DS.
  TITLE     Dual-specificity phosphatase 29 is induced during neurogenic
            skeletal muscle atrophy and attenuates glucocorticoid receptor
            activity in muscle cell culture
  JOURNAL   Am J Physiol Cell Physiol 319 (2), C441-C454 (2020)
   PUBMED   32639872
  REMARK    GeneRIF: Dual-specificity phosphatase 29 is induced during
            neurogenic skeletal muscle atrophy and attenuates glucocorticoid
            receptor activity in muscle cell culture.
REFERENCE   2  (bases 1 to 1135)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1135)
  AUTHORS   Lei,T.Y., Wang,H.T., Li,F., Cui,Y.Q., Fu,F., Li,R. and Liao,C.
  TITLE     De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With
            Developmental Delay, Speech Delay, Congenital Cleft Palate, and
            Bilateral Hearing Impairment
  JOURNAL   Cleft Palate Craniofac J 54 (3), 343-350 (2017)
   PUBMED   27031267
REFERENCE   4  (bases 1 to 1135)
  AUTHORS   Zhao BM, Keasey SL, Tropea JE, Lountos GT, Dyas BK, Cherry S,
            Raran-Kurussi S, Waugh DS and Ulrich RG.
  TITLE     Phosphotyrosine Substrate Sequence Motifs for Dual Specificity
            Phosphatases
  JOURNAL   PLoS One 10 (8), e0134984 (2015)
   PUBMED   26302245
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1135)
  AUTHORS   Lountos GT, Tropea JE and Waugh DS.
  TITLE     Structure of human dual-specificity phosphatase 27 at 2.38 A
            resolution
  JOURNAL   Acta Crystallogr D Biol Crystallogr 67 (Pt 5), 471-479 (2011)
   PUBMED   21543850
  REMARK    GeneRIF: Here, the overexpression, purification and structure
            determination of DUPD1 (also known as DUSP27) at 2.38 A resolution
            are presented.
REFERENCE   6  (bases 1 to 1135)
  AUTHORS   Friedberg I, Nika K, Tautz L, Saito K, Cerignoli F, Friedberg I,
            Godzik A and Mustelin T.
  TITLE     Identification and characterization of DUSP27, a novel dual-specific
            protein phosphatase
  JOURNAL   FEBS Lett 581 (13), 2527-2533 (2007)
   PUBMED   17498703
  REMARK    GeneRIF: a cytosolic enzyme, expressed in skeletal muscle, liver and
            adipose tissue, suggesting its possible role in energy metabolism
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DRR138525.473341.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142853,
            SAMEA2158800 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000338487.6/ ENSP00000340609.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL392111.12 and AC018511.5.
            On Jul 1, 2020 this sequence version replaced NM_001003892.2.
FEATURES             Location/Qualifiers
     source          1..1135
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.2"
     gene            1..1135
                     /gene="DUSP29"
                     /gene_synonym="DUPD1; DUSP27; FMDSP"
                     /note="dual specificity phosphatase 29"
                     /db_xref="GeneID:338599"
                     /db_xref="HGNC:HGNC:23481"
                     /db_xref="MIM:618574"
     CDS             109..771
                     /gene="DUSP29"
                     /gene_synonym="DUPD1; DUSP27; FMDSP"
                     /EC_number="3.1.3.16"
                     /EC_number="3.1.3.48"
                     /note="dual specificity phosphatase DUPD1; atypical
                     dual-specific protein phosphatase; dual specificity
                     phosphatase 27; dual specificity phosphatase and pro
                     isomerase domain containing 1"
                     /codon_start=1
                     /product="dual specificity phosphatase 29"
                     /protein_id="NP_001003892.1"
                     /db_xref="CCDS:CCDS31223.1"
                     /db_xref="GeneID:338599"
                     /db_xref="HGNC:HGNC:23481"
                     /db_xref="MIM:618574"
                     /translation="MTSGEVKTSLKNAYSSAKRLSPKMEEEGEEEDYCTPGAFELERLF
                     WKGSPQYTHVNEVWPKLYIGDEATALDRYRLQKAGFTHVLNAAHGRWNVDTGPDYYRDM
                     DIQYHGVEADDLPTFDLSVFFYPAAAFIDRALSDDHSKILVHCVMGRSRSATLVLAYLM
                     IHKDMTLVDAIQQVAKNRCVLPNRGFLKQLRELDKQLVQQRRRSQRQDGEEEDGREL"
     misc_feature    109..195
                     /gene="DUSP29"
                     /gene_synonym="DUPD1; DUSP27; FMDSP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68J44.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1111..1116
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DUSP29"
                     /gene_synonym="DUPD1; DUSP27; FMDSP"
                     /note="hexamer: ATTAAA"
     polyA_site      1135
                     /gene="DUSP29"
                     /gene_synonym="DUPD1; DUSP27; FMDSP"
                     /note="major polyA site"
ORIGIN
        1 gtggctgggc gtgcggctgc tacatgcccc acggaccaga acctcccgac gcggccaggc
       61 cccggcacac ccagctgcag aaaggagaga aaatcccttg gctctaaaat gacatctgga
      121 gaagtgaaga caagcctcaa gaatgcctac tcatctgcca agaggctgtc gccgaagatg
      181 gaggaggaag gggaggagga ggactactgc acccctggag cctttgagct ggagcggctc
      241 ttctggaagg gcagtcccca gtacacccac gtcaacgagg tctggcccaa gctctacatt
      301 ggcgatgagg cgacggcgct ggaccgctat aggctgcaga aggcggggtt cacgcacgtg
      361 ctgaacgcgg cccacggccg ctggaacgtg gacactgggc ccgactacta ccgcgacatg
      421 gacatccagt accacggcgt ggaggccgac gacctgccca ccttcgacct cagtgtcttc
      481 ttctacccgg cggcagcctt catcgacaga gcgctaagcg acgaccacag taagatcctg
      541 gttcactgcg tcatgggccg cagccggtca gccaccctgg tcctggccta cctgatgatc
      601 cacaaggaca tgaccctggt ggacgccatc cagcaagtgg ccaagaaccg ctgcgtcctc
      661 ccgaaccggg gctttttgaa gcagctccgg gagctggaca agcagctggt gcagcagagg
      721 cgacggtccc agcgccagga cggtgaggag gaggatggca gggagctgta ggcccgactc
      781 acagggccag cagaggcact tggggacaga ggggagaggc agaacatagc cctggcctag
      841 gactccagag aagggatggt gaaaccgaag ctcgactctt ccaaaccatc ttgttcaact
      901 tccccatgtg tgctggggac agggaggacc cagagctgcc cccgggcaga gctgagcgct
      961 cagcctctca gcaaaatggg agggacgggc tccccggctc tgggtcacag aggagcatgc
     1021 cacgctgcac caagtctcct gctttggttt tgtttttttg gtgagaagga agagggaaaa
     1081 gattttaaaa tgtgtaggca gtatgttgtg attaaacgtt tggctttgtc tgaaa
//
LOCUS       NM_001003894            2227 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens chromodomain Y-linked 1B (CDY1B), transcript variant 1,
            mRNA.
ACCESSION   NM_001003894
VERSION     NM_001003894.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2227)
  AUTHORS   Ghorbel M, Baklouti-Gargouri S, Keskes R, Chakroun N, Sellami A,
            Fakhfakh F and Ammar-Keskes L.
  TITLE     gr/gr-DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male
            infertility in Tunisian population
  JOURNAL   Gene 592 (1), 29-35 (2016)
   PUBMED   27457284
  REMARK    GeneRIF: study reported a new type of AZFc deletion
            (gr/gr-DAZ2-DAZ4-CDY1b) and hypothesis that this new deletion is the
            result of 2 successive events favored by the unstable structure of
            AZFc region; also demonstrated that this deletion constitutes a
            relative high-risk factor for male infertility in Tunisian
            population
REFERENCE   2  (bases 1 to 2227)
  AUTHORS   Fischle W, Franz H, Jacobs SA, Allis CD and Khorasanizadeh S.
  TITLE     Specificity of the chromodomain Y chromosome family of chromodomains
            for lysine-methylated ARK(S/T) motifs
  JOURNAL   J Biol Chem 283 (28), 19626-19635 (2008)
   PUBMED   18450745
REFERENCE   3  (bases 1 to 2227)
  AUTHORS   Kleiman SE, Yogev L, Hauser R, Botchan A, Bar-Shira Maymon B,
            Schreiber L, Paz G and Yavetz H.
  TITLE     Members of the CDY family have different expression patterns: CDY1
            transcripts have the best correlation with complete spermatogenesis
  JOURNAL   Hum Genet 113 (6), 486-492 (2003)
   PUBMED   14569460
  REMARK    Erratum:[Hum Genet. 2004 Feb;114(3):322]
REFERENCE   4  (bases 1 to 2227)
  AUTHORS   Dorus S, Gilbert SL, Forster ML, Barndt RJ and Lahn BT.
  TITLE     The CDY-related gene family: coordinated evolution in copy number,
            expression profile and protein sequence
  JOURNAL   Hum Mol Genet 12 (14), 1643-1650 (2003)
   PUBMED   12837688
REFERENCE   5  (bases 1 to 2227)
  AUTHORS   Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
            Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A,
            Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R,
            Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R,
            McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S,
            Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP,
            Waterston RH, Wilson RK, Rozen S and Page DC.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
REFERENCE   6  (bases 1 to 2227)
  AUTHORS   Saut N, Terriou P, Navarro A, Levy N and Mitchell MJ.
  TITLE     The human Y chromosome genes BPY2, CDY1 and DAZ are not essential
            for sustained fertility
  JOURNAL   Mol Hum Reprod 6 (9), 789-793 (2000)
   PUBMED   10956550
REFERENCE   7  (bases 1 to 2227)
  AUTHORS   Jones DO, Cowell IG and Singh PB.
  TITLE     Mammalian chromodomain proteins: their role in genome organisation
            and expression
  JOURNAL   Bioessays 22 (2), 124-137 (2000)
   PUBMED   10655032
  REMARK    Review article
REFERENCE   8  (bases 1 to 2227)
  AUTHORS   Lahn BT and Page DC.
  TITLE     Retroposition of autosomal mRNA yielded testis-specific gene family
            on human Y chromosome
  JOURNAL   Nat Genet 21 (4), 429-433 (1999)
   PUBMED   10192397
  REMARK    Erratum:[Nat Genet 1999 Jun;22(2):209]
REFERENCE   9  (bases 1 to 2227)
  AUTHORS   Yen PH.
  TITLE     A long-range restriction map of deletion interval 6 of the human Y
            chromosome: a region frequently deleted in azoospermic males
  JOURNAL   Genomics 54 (1), 5-12 (1998)
   PUBMED   9806824
REFERENCE   10  (bases 1 to 2227)
  AUTHORS   Lahn BT and Page DC.
  TITLE     Functional coherence of the human Y chromosome
  JOURNAL   Science 278 (5338), 675-680 (1997)
   PUBMED   9381176
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC033041.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000382407.1/ ENSP00000371844.1
            RefSeq Select criteria   :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC068601.8.
            On Aug 13, 2020 this sequence version replaced NM_001003894.1.
            Summary: This gene encodes a protein containing a chromodomain and
            a histone acetyltransferase catalytic domain. Chromodomain proteins
            are components of heterochromatin-like complexes and can act as
            gene repressors. This protein is localized to the nucleus of late
            spermatids where histone hyperacetylation takes place. Histone
            hyperacetylation is thought to facilitate the transition in which
            protamines replace histones as the major DNA-packaging protein. The
            human chromosome Y has two identical copies of this gene within a
            palindromic region; this record represents the more centromeric
            copy. Chromosome Y also contains a pair of closely related genes in
            another more telomeric palindrome as well as several related
            pseudogenes. Two protein isoforms are encoded by transcript
            variants of this gene. Additional transcript variants have been
            described, but their full-length nature has not been determined.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1), also called the major
            transcript, is unspliced. It encodes isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2227
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.23"
     gene            1..2227
                     /gene="CDY1B"
                     /gene_synonym="CDY"
                     /note="chromodomain Y-linked 1B"
                     /db_xref="GeneID:253175"
                     /db_xref="HGNC:HGNC:23920"
     misc_feature    104..106
                     /gene="CDY1B"
                     /gene_synonym="CDY"
                     /note="upstream in-frame stop codon"
     CDS             332..1954
                     /gene="CDY1B"
                     /gene_synonym="CDY"
                     /EC_number="2.3.1.48"
                     /note="isoform a is encoded by transcript variant 1;
                     chromodomain protein, Y chromosome, 1, centromeric;
                     testis-specific chromodomain protein on Y, centromeric;
                     testis-specific chromodomain protein Y 1; chromodomain
                     protein, Y-linked, 1B"
                     /codon_start=1
                     /product="testis-specific chromodomain protein Y 1 isoform
                     a"
                     /protein_id="NP_001003894.1"
                     /db_xref="CCDS:CCDS35487.1"
                     /db_xref="GeneID:253175"
                     /db_xref="HGNC:HGNC:23920"
                     /translation="MASQEFEVEAIVDKRQDKNGNTQYLVRWKGYDKQDDTWEPEQHLM
                     NCEKCVHDFNRRQTEKQKKLTWTTTSRIFSNNARRRTSRSTKANYSKNSPKTPVTDKHH
                     RSKNRKLFAASKNVRRKAASILSDTKNMEIINSTIETLAPDSPFDHKTVSGFQKLEKLD
                     PIAADQQDTVVFKVTEGKLLRDPLSRPGAEQTGIQNKTQIHPLMSQMSGSVTASMATGS
                     ATRKGIVVLIDPLAANGTTDMHTSVPRVKGGQRNITDDSRDQPFIKKMHFTIRLTESAS
                     TYRDIVVKKEDGFTQIVLSTRSTEKNALNTEVIKEIVNALNSAAADDSKLVLFSAAGSV
                     FCCGLDFGYFVKHLRNNRNTASLEMVDTIKNFVNTFIQFKKPIVVSVNGPAIGLGASIL
                     PLCDLVWANEKAWFQTPYTTFGQSPDGCSSITFPKMMGKASANEMLIAGRKLTAREACA
                     KGLVSQVFLTGTFTQEVMIQIKELASYNPIVLEECKALVRCNIKLELEQANERECEVLR
                     KIWSSAQGIESMLKYVENKIDEF"
     misc_feature    557..649
                     /gene="CDY1B"
                     /gene_synonym="CDY"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6F8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 agagtaacag gcaggaagaa agctttctgt actacaccag agggttgggg ctgtggattt
       61 agctactctc acctgaggct actgagcaag ttgtcatgca ccatgagaca aagcccaagc
      121 tgtcccacca ggcagtaagt atggagaggt tcaggcacat ggcatagctg ctatttcgca
      181 caattttcac tacaccagtg gtgacaaaat agaagaggtt catccataca cagaacctgg
      241 tgaagagctg gaggcagaaa gaagtgtcta tgtggagacg caactgaaac aaaggtggca
      301 cagcaactgt tccaatcccg tgtctttcct catggcttcc caggagtttg aggttgaagc
      361 tattgttgac aaaagacagg ataaaaatgg gaatacacag tatttggttc ggtggaaagg
      421 ttatgacaaa caggatgaca cttgggaacc agagcagcac ctcatgaact gtgaaaaatg
      481 tgtacatgat tttaatagac gacagactga aaaacagaaa aaactgacat ggactacaac
      541 cagtagaatt ttttcaaaca atgccagaag aagaacttcc agatctacaa aagcaaacta
      601 ttctaagaac tctcctaaaa cgccagtgac tgataaacac cacaggtcca aaaaccgcaa
      661 gttatttgct gccagcaaga acgttaggag aaaggcagct tcaattctct ccgacacaaa
      721 gaatatggag ataataaatt caactattga gacccttgca cctgacagcc cctttgacca
      781 caaaactgtg agtggctttc agaaacttga gaaactggac cctattgcag cagatcagca
      841 ggacacggtg gtcttcaagg tgacagaagg gaaactcctc cgggaccctt tgtcacgtcc
      901 tggtgcagaa cagactggaa tacagaacaa gactcagata cacccactaa tgtcgcagat
      961 gtctggctca gttactgctt ctatggccac aggttcagct acccgaaagg gtatagtggt
     1021 attaatagac ccattagcag ccaatgggac aacagacatg catacctcag ttccaagagt
     1081 gaaaggtggg caaagaaata ttactgatga cagcagagac cagcctttta tcaagaagat
     1141 gcacttcacc ataaggctaa cagaaagtgc cagcacatac agagacattg tagtgaagaa
     1201 agaggatgga ttcacccaga tagtgctatc aactagatcg acagaaaaaa atgcactgaa
     1261 tacagaagta attaaagaaa tagttaatgc tctgaatagc gctgctgcag atgacagcaa
     1321 gctcgtgctg ttcagtgcag ctggaagtgt cttttgctgc ggtcttgatt ttgggtactt
     1381 tgtgaagcac ttaaggaata acagaaacac agcaagcctt gaaatggtgg acaccatcaa
     1441 gaactttgtg aatactttta ttcaatttaa aaagcctatt gttgtatcag tcaatggccc
     1501 tgcgattgga ctaggtgcat ccatcctgcc tctttgtgat ctcgtgtggg ctaatgaaaa
     1561 ggcttggttc caaacccctt atacgacctt tggacagagt ccagatggct gttcttctat
     1621 tacattcccc aaaatgatgg gtaaagcatc tgccaatgaa atgttaattg ctgggcgaaa
     1681 gctgacagca agggaggcat gcgccaaagg cctggtctct caggtatttt tgactggaac
     1741 tttcacccaa gaggttatga ttcaaattaa ggagcttgcc tcatacaatc caattgtact
     1801 ggaagaatgt aaggccctcg ttcgctgtaa tattaagttg gagttggaac aggccaatga
     1861 gagagagtgt gaggtgctga ggaagatctg gagctcagcc caagggatag aatccatgtt
     1921 aaagtatgtt gaaaataaaa ttgatgagtt ttaattgtca gtctgtctgc tcaggacaca
     1981 agaactaagg ggcaacaaat gcatcatgag ttgcaagatg ccctaatcca tcttcatagc
     2041 ccaaaacaat ttcacccata gctaaggctt ggaaacagaa ctggaaatgt ccaagctatg
     2101 tatttaaatt atcacatcat ttttaagcac tgtagcttta caaggagtaa caaaacagcc
     2161 tctttgccca aatgtgatta ttttatgcac acctaagccc aaatataaaa acagactctt
     2221 cttgcaa
//
LOCUS       NM_001003897            1191 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens mannosidase beta like (MANBAL), transcript variant 2,
            mRNA.
ACCESSION   NM_001003897
VERSION     NM_001003897.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1191)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1191)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN,
            Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden
            JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM,
            Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor
            S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh
            VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry
            D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R,
            Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay
            H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce
            CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore
            N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC,
            Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL,
            Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM,
            Bentley DR, Beck S and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.150239.1,
            SRR5189655.128956.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000373606.8/ ENSP00000362708.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL034422.24.
            On Apr 17, 2019 this sequence version replaced NM_001003897.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1191
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.23"
     gene            1..1191
                     /gene="MANBAL"
                     /note="mannosidase beta like"
                     /db_xref="GeneID:63905"
                     /db_xref="HGNC:HGNC:15799"
     misc_feature    50..52
                     /gene="MANBAL"
                     /note="upstream in-frame stop codon"
     CDS             89..346
                     /gene="MANBAL"
                     /note="isoform a is encoded by transcript variant 2;
                     protein MANBAL; mannosidase, beta A, lysosomal-like;
                     mannosidase beta A like"
                     /codon_start=1
                     /product="protein MANBAL isoform a"
                     /protein_id="NP_001003897.1"
                     /db_xref="CCDS:CCDS13293.1"
                     /db_xref="GeneID:63905"
                     /db_xref="HGNC:HGNC:15799"
                     /translation="MASDLDFSPPEVPEPTFLENLLRYGLFLGAIFQLICVLAIIVPIP
                     KSHEAEAEPSEPRSAEVTRKPKAAVPSVNKRPKKETKKKR"
     misc_feature    158..220
                     /gene="MANBAL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQG1.1);
                     transmembrane region"
     misc_feature    230..343
                     /gene="MANBAL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQG1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1166..1171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MANBAL"
                     /note="hexamer: AATAAA"
     polyA_site      1191
                     /gene="MANBAL"
                     /note="major polyA site"
ORIGIN
        1 acttccgggg gagcggcgcg gcggcgcggg agttggttct aaagagtggt gagtcagaag
       61 agacgtcagg cagcaagcga cttgggccat ggcctctgac ctagacttct cacctccgga
      121 ggtgcccgag cccactttcc tggagaacct gctacggtac ggactcttcc tgggagccat
      181 cttccagctc atctgtgtgc tggccatcat cgtacccatt cccaagtccc acgaggcgga
      241 ggctgaaccg tctgagccca gaagtgctga ggtgacgagg aagcccaagg ctgctgttcc
      301 ttctgtgaac aagaggccca agaaagagac taagaagaag cggtagaaga ggaggcctga
      361 ggagctgggc gggcagggag agggtcttgg ggacagccct cctgggaatc tacattgtgt
      421 tcccccgcat tccaggctca gggtctgagg aggctgtgac gccctatgac cgcagagatc
      481 tagacagtcg taacagtccc caggctccag ctgggcaatc caccacttcc tcttccttct
      541 gcttctgtga cggtttagag tcaagggggc tgaaacacac tgtgagcata gactgtatta
      601 ggtttgttca gaagccgggt cagctcacag agtcacattt tcttgcttag tcatgtgtcc
      661 ctccttgagt tgccccctcc ttgtgggttt acactacatt tgggagtcat tgtctaatgc
      721 tgacaagcac accctctccc attatttgtg cactacagat ctcctcctga tcagtcacct
      781 ttgttgctgc tgtgtagaca gagccaggcc tcacctgttt gtttaggcca agatgccatg
      841 gacatgcagc gttagtgatc ccactagctg tgacagccag gcccagaaaa tgcctggcgt
      901 gagagccagc agacagccag gccagggtag gcagtgcctg cttctgctcc atcaggtgca
      961 ggggatttgg ctgaaggcgt gcatatttcc tgggcacaaa cttcctgagc ctctgaaatg
     1021 ggaggctcgt caatttcaga ccaacctctt ttcaacccat catagcacgt tcaaggtgtg
     1081 ccttttactt ctacctgtac atcccccatc ccttcaattc tttcattccc tgaccagtga
     1141 gagggttcct gggggaagta tggtgaataa actgacatgc atgcttcaga a
//
LOCUS       NM_001003931            2337 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens poly(ADP-ribose) polymerase family member 3 (PARP3),
            transcript variant 1, mRNA.
ACCESSION   NM_001003931
VERSION     NM_001003931.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2337)
  AUTHORS   van Beek L, McClay E, Patel S, Schimpl M, Spagnolo L and Maia de
            Oliveira T.
  TITLE     PARP Power: A Structural Perspective on PARP1, PARP2, and PARP3 in
            DNA Damage Repair and Nucleosome Remodelling
  JOURNAL   Int J Mol Sci 22 (10), 5112 (2021)
   PUBMED   34066057
  REMARK    GeneRIF: PARP Power: A Structural Perspective on PARP1, PARP2, and
            PARP3 in DNA Damage Repair and Nucleosome Remodelling. Review
            article Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2337)
  AUTHORS   Suskiewicz MJ, Palazzo L, Hughes R and Ahel I.
  TITLE     Progress and outlook in studying the substrate specificities of
            PARPs and related enzymes
  JOURNAL   FEBS J 288 (7), 2131-2142 (2021)
   PUBMED   32785980
  REMARK    GeneRIF: Progress and outlook in studying the substrate
            specificities of PARPs and related enzymes.
REFERENCE   3  (bases 1 to 2337)
  AUTHORS   Sharif-Askari B, Amrein L, Aloyz R and Panasci L.
  TITLE     PARP3 inhibitors ME0328 and olaparib potentiate vinorelbine
            sensitization in breast cancer cell lines
  JOURNAL   Breast Cancer Res Treat 172 (1), 23-32 (2018)
   PUBMED   30039287
  REMARK    GeneRIF: Our results indicated this approach with PARP3 inhibitors
            and vinorelbine is unique and promising for breast cancer patients
            with metastases. This combination could significantly increase the
            survival of breast cancer patients with metastases
REFERENCE   4  (bases 1 to 2337)
  AUTHORS   Ji M, Wang L, Xue N, Lai F, Zhang S, Jin J and Chen X.
  TITLE     The Development of a Biotinylated NAD+-Applied Human
            Poly(ADP-Ribose) Polymerase 3 (PARP3) Enzymatic Assay
  JOURNAL   SLAS Discov 23 (6), 545-553 (2018)
   PUBMED   29676938
  REMARK    GeneRIF: The integral roles of PARP3 in DNA damage repair.
REFERENCE   5  (bases 1 to 2337)
  AUTHORS   Belousova EA, Ishchenko capital A, CyrillicA and Lavrik OI.
  TITLE     Dna is a New Target of Parp3
  JOURNAL   Sci Rep 8 (1), 4176 (2018)
   PUBMED   29520010
  REMARK    GeneRIF: gapped DNA that was ADP-ribosylated by PARP3 could be
            ligated to double-stranded DNA by DNA ligases. Moreover, this
            ADP-ribosylated DNA could serve as a primed DNA substrate for PAR
            chain elongation by the purified proteins PARP1 and PARP2 as well as
            by cell-free extracts. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2337)
  AUTHORS   Figueroa JD, Malats N, Real FX, Silverman D, Kogevinas M, Chanock S,
            Welch R, Dosemeci M, Tardon A, Serra C, Carrato A, Garcia-Closas R,
            Castano-Vinyals G, Rothman N and Garcia-Closas M.
  TITLE     Genetic variation in the base excision repair pathway and bladder
            cancer risk
  JOURNAL   Hum Genet 121 (2), 233-242 (2007)
   PUBMED   17203305
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2337)
  AUTHORS   Rouleau M, McDonald D, Gagne P, Ouellet ME, Droit A, Hunter JM,
            Dutertre S, Prigent C, Hendzel MJ and Poirier GG.
  TITLE     PARP-3 associates with polycomb group bodies and with components of
            the DNA damage repair machinery
  JOURNAL   J Cell Biochem 100 (2), 385-401 (2007)
   PUBMED   16924674
  REMARK    GeneRIF: PARP-3 is a nuclear protein involved in transcriptional
            silencing and in the cellular response to DNA damage
REFERENCE   8  (bases 1 to 2337)
  AUTHORS   Augustin A, Spenlehauer C, Dumond H, Menissier-De Murcia J, Piel M,
            Schmit AC, Apiou F, Vonesch JL, Kock M, Bornens M and De Murcia G.
  TITLE     PARP-3 localizes preferentially to the daughter centriole and
            interferes with the G1/S cell cycle progression
  JOURNAL   J Cell Sci 116 (Pt 8), 1551-1562 (2003)
   PUBMED   12640039
REFERENCE   9  (bases 1 to 2337)
  AUTHORS   Johansson M.
  TITLE     A human poly(ADP-ribose) polymerase gene family (ADPRTL): cDNA
            cloning of two novel poly(ADP-ribose) polymerase homologues
  JOURNAL   Genomics 57 (3), 442-445 (1999)
   PUBMED   10329013
REFERENCE   10  (bases 1 to 2337)
  AUTHORS   Bashford,C.L., Chance,B., Lloyd,D. and Poole,R.K.
  TITLE     Oscillations of redox states in synchronously dividing cultures of
            Acanthamoeba castellanii and Schizosaccharomyces pombe
  JOURNAL   Biophys J 29 (1), 1-11 (1980)
   PUBMED   7260241
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: Y16836.1, AY126341.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000398755.8/ ENSP00000381740.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CA394313.1, Y16836.1 and
            CA309713.1.
            On Jul 20, 2020 this sequence version replaced NM_001003931.3.
            Summary: The protein encoded by this gene belongs to the PARP
            family. These enzymes modify nuclear proteins by
            poly-ADP-ribosylation, which is required for DNA repair, regulation
            of apoptosis, and maintenance of genomic stability. This gene
            encodes the poly(ADP-ribosyl)transferase 3, which is preferentially
            localized to the daughter centriole throughout the cell cycle.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes isoform b.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2337
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.2"
     gene            1..2337
                     /gene="PARP3"
                     /gene_synonym="ADPRT3; ADPRTL2; ADPRTL3; ARTD3; IRT1;
                     PADPRT-3"
                     /note="poly(ADP-ribose) polymerase family member 3"
                     /db_xref="GeneID:10039"
                     /db_xref="HGNC:HGNC:273"
                     /db_xref="MIM:607726"
     misc_feature    265..267
                     /gene="PARP3"
                     /gene_synonym="ADPRT3; ADPRTL2; ADPRTL3; ARTD3; IRT1;
                     PADPRT-3"
                     /note="upstream in-frame stop codon"
     misc_feature    328..330
                     /gene="PARP3"
                     /gene_synonym="ADPRT3; ADPRTL2; ADPRTL3; ARTD3; IRT1;
                     PADPRT-3"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MSLLFLA"
     CDS             349..1950
                     /gene="PARP3"
                     /gene_synonym="ADPRT3; ADPRTL2; ADPRTL3; ARTD3; IRT1;
                     PADPRT-3"
                     /EC_number="2.4.2.30"
                     /note="isoform a is encoded by transcript variant 1;
                     ADP-ribosyltransferase (NAD+; poly (ADP-ribose)
                     polymerase)-like 2; ADP-ribosyltransferase (NAD+; poly
                     (ADP-ribose) polymerase)-like 3; NAD+
                     ADP-ribosyltransferase 3; poly(ADP-ribose) synthetase-3;
                     poly [ADP-ribose] polymerase 3; ADPRT-3; poly[ADP-ribose]
                     synthetase 3; NAD(+) ADP-ribosyltransferase 3;
                     poly[ADP-ribose] synthase 3; ADP-ribosyltransferase
                     diphtheria toxin-like 3; DNA ADP-ribosyltransferase PARP3;
                     protein mono-ADP-ribosyltransferase PARP3"
                     /codon_start=1
                     /product="protein mono-ADP-ribosyltransferase PARP3 isoform
                     a"
                     /protein_id="NP_001003931.4"
                     /db_xref="CCDS:CCDS43097.1"
                     /db_xref="GeneID:10039"
                     /db_xref="HGNC:HGNC:273"
                     /db_xref="MIM:607726"
                     /translation="MAPKPKPWVQTEGPEKKKGRQAGREEDPFRSTAEALKAIPAEKRI
                     IRVDPTCPLSSNPGTQVYEDYNCTLNQTNIENNNNKFYIIQLLQDSNRFFTCWNRWGRV
                     GEVGQSKINHFTRLEDAKKDFEKKFREKTKNNWAERDHFVSHPGKYTLIEVQAEDEAQE
                     AVVKVDRGPVRTVTKRVQPCSLDPATQKLITNIFSKEMFKNTMALMDLDVKKMPLGKLS
                     KQQIARGFEALEALEEALKGPTDGGQSLEELSSHFYTVIPHNFGHSQPPPINSPELLQA
                     KKDMLLVLADIELAQALQAVSEQEKTVEEVPHPLDRDYQLLKCQLQLLDSGAPEYKVIQ
                     TYLEQTGSNHRCPTLQHIWKVNQEGEEDRFQAHSKLGNRKLLWHGTNMAVVAAILTSGL
                     RIMPHSGGRVGKGIYFASENSKSAGYVIGMKCGAHHVGYMFLGEVALGREHHINTDNPS
                     LKSPPPGFDSVIARGHTEPDPTQDTELELDGQQVVVPQGQPVPCPEFSSSTFSQSEYLI
                     YQESQCRLRYLLEVHL"
     misc_feature    349..438
                     /gene="PARP3"
                     /gene_synonym="ADPRT3; ADPRTL2; ADPRTL3; ARTD3; IRT1;
                     PADPRT-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6F1.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    388..408
                     /gene="PARP3"
                     /gene_synonym="ADPRT3; ADPRTL2; ADPRTL3; ARTD3; IRT1;
                     PADPRT-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6F1.4);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     misc_feature    1708..1794
                     /gene="PARP3"
                     /gene_synonym="ADPRT3; ADPRTL2; ADPRTL3; ARTD3; IRT1;
                     PADPRT-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6F1.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2308..2313
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PARP3"
                     /gene_synonym="ADPRT3; ADPRTL2; ADPRTL3; ARTD3; IRT1;
                     PADPRT-3"
                     /note="hexamer: CATAAA"
     polyA_site      2337
                     /gene="PARP3"
                     /gene_synonym="ADPRT3; ADPRTL2; ADPRTL3; ARTD3; IRT1;
                     PADPRT-3"
                     /note="major polyA site"
ORIGIN
        1 accgcgcgac cggcagatgc gtgctgcagg ccccggccac atgagcagcg ctacggacgc
       61 gactgccccg gccttggata tgccagatcg agtgtccacc cgtccgtggg actggtcgcc
      121 tgactcggcc tgccccagcc tctgcttcac cccactggtg gccaaatagc cgatgtctaa
      181 tcccccacac aagctcatcc ccggcctctg gcgattgttg ggaattctct ccctaattca
      241 cgcctgaggc tcatggagag ttgctagacc tgggactgcc ctgggaggcg cacacaacca
      301 ggccgggtgg cagccaggac ctctcccatg tccctgcttt tcttggccat ggctccaaag
      361 ccgaagccct gggtacagac tgagggccct gagaagaaga agggccggca ggcaggaagg
      421 gaggaggacc ccttccgctc caccgctgag gccctcaagg ccatacccgc agagaagcgc
      481 ataatccgcg tggatccaac atgtccactc agcagcaacc ccgggaccca ggtgtatgag
      541 gactacaact gcaccctgaa ccagaccaac atcgagaaca acaacaacaa gttctacatc
      601 atccagctgc tccaagacag caaccgcttc ttcacctgct ggaaccgctg gggccgtgtg
      661 ggagaggtcg gccagtcaaa gatcaaccac ttcacaaggc tagaagatgc aaagaaggac
      721 tttgagaaga aatttcggga aaagaccaag aacaactggg cagagcggga ccactttgtg
      781 tctcacccgg gcaagtacac acttatcgaa gtacaggcag aggatgaggc ccaggaagct
      841 gtggtgaagg tggacagagg cccagtgagg actgtgacta agcgggtgca gccctgctcc
      901 ctggacccag ccacgcagaa gctcatcact aacatcttca gcaaggagat gttcaagaac
      961 accatggccc tcatggacct ggatgtgaag aagatgcccc tgggaaagct gagcaagcaa
     1021 cagattgcac ggggtttcga ggccttggag gcgctggagg aggccctgaa aggccccacg
     1081 gatggtggcc aaagcctgga ggagctgtcc tcacactttt acaccgtcat cccgcacaac
     1141 ttcggccaca gccagccccc gcccatcaat tcccctgagc ttctgcaggc caagaaggac
     1201 atgctgctgg tgctggcgga catcgagctg gcccaggccc tgcaggcagt ctctgagcag
     1261 gagaagacgg tggaggaggt gccacacccc ctggaccgag actaccagct tctcaagtgc
     1321 cagctgcagc tgctagactc tggagcacct gagtacaagg tgatacagac ctacttagaa
     1381 cagactggca gcaaccacag gtgccctaca cttcaacaca tctggaaagt aaaccaagaa
     1441 ggggaggaag acagattcca ggcccactcc aaactgggta atcggaagct gctgtggcat
     1501 ggcaccaaca tggccgtggt ggccgccatc ctcactagtg ggctccgcat catgccacat
     1561 tctggtgggc gtgttggcaa gggcatctac tttgcctcag agaacagcaa gtcagctgga
     1621 tatgttattg gcatgaagtg tggggcccac catgtcggct acatgttcct gggtgaggtg
     1681 gccctgggca gagagcacca tatcaacacg gacaacccca gcttgaagag cccacctcct
     1741 ggcttcgaca gtgtcattgc ccgaggccac accgagcctg atccgaccca ggacactgag
     1801 ttggagctgg atggccagca agtggtggtg ccccagggcc agcctgtgcc ctgcccagag
     1861 ttcagcagct ccacattctc ccagagcgag tacctcatct accaggagag ccagtgtcgc
     1921 ctgcgctacc tgctggaggt ccacctctga gtgcccgccc tgtcccccgg ggtcctgcaa
     1981 ggctggactg tgatcttcaa tcatcctgcc catctctggt acccctatat cactcctttt
     2041 tttcaagaat acaatacgtt gttgttaact atagtcacca tgctgtacaa gatccctgaa
     2101 cttatgcctc ctaactgaaa ttttgtattc tttgacacat ctgcccagtc cctctcctcc
     2161 cagcccatgg taaccagcat ttgactcttt acttgtataa gggcagcttt tataggttcc
     2221 acatgtaagt gagatcatgc agtgtttgtc tttctgtgcc tggcttattt cactcagcat
     2281 aatgtgcacc gggttcaccc atgttttcat aaatgacaag atttcctcct tttttaa
//
LOCUS       NM_001003937            3052 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens TSPY like 6 (TSPYL6), mRNA.
ACCESSION   NM_001003937
VERSION     NM_001003937.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3052)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3052)
  AUTHORS   Liang Y, Zhang R, Zhang S, Ji G, Shi P, Yang T, Liu F, Feng J, Li C,
            Guo D and Chen M.
  TITLE     Association of ACYP2 and TSPYL6 Genetic Polymorphisms with Risk of
            Ischemic Stroke in Han Chinese Population
  JOURNAL   Mol Neurobiol 54 (8), 5988-5995 (2017)
   PUBMED   27686078
  REMARK    GeneRIF: genetic polymorphisms of ACYP2 and TSPYL6 are associated
            with increased risk of developing ischemic stroke
REFERENCE   3  (bases 1 to 3052)
  AUTHORS   Liu M, Li B, Guo W, Zhang X, Chen Z, Li J, Yan M, Chen C and Jin T.
  TITLE     Association between single nucleotide polymorphisms in the TSPYL6
            gene and breast cancer susceptibility in the Han Chinese population
  JOURNAL   Oncotarget 7 (34), 54771-54781 (2016)
   PUBMED   27458158
  REMARK    GeneRIF: Findings indicate a significant association between single
            nucleotide polymorphisms (SNPs) in the testis-specific
            Y-encoded-like protein 6 (TSPYL6) gene and breast cancer (BC) risk
            in a Han Chinese population.
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AK097417.1, BC068576.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000317802.9/ ENSP00000417919.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB073493.1, AK097417.1 and BC068576.1.
            On Nov 23, 2018 this sequence version replaced NM_001003937.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3052
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.2"
     gene            1..3052
                     /gene="TSPYL6"
                     /note="TSPY like 6"
                     /db_xref="GeneID:388951"
                     /db_xref="HGNC:HGNC:14521"
     misc_feature    22..24
                     /gene="TSPYL6"
                     /note="upstream in-frame stop codon"
     CDS             79..1311
                     /gene="TSPYL6"
                     /note="TSPY-like protein 6; testicular tissue protein Li
                     211"
                     /codon_start=1
                     /product="testis-specific Y-encoded-like protein 6"
                     /protein_id="NP_001003937.2"
                     /db_xref="CCDS:CCDS42682.1"
                     /db_xref="GeneID:388951"
                     /db_xref="HGNC:HGNC:14521"
                     /translation="MSLPESPHSPATLDYALEDPHQGQRSREKSKATEVMADMFDGRLE
                     PIVFPPPRLPEEGVAPQDPADGGHTFHILVDAGRSHGAIKAGQEVTPPPAEGLEAASAS
                     LTTDGSLKNGFPGEETHGLGGEKALETCGAGRSESEVIAEGKAEDVKPEECAMFSAPVD
                     EKPGGEEMDVAEENRAIDEVNREAGPGPGPGPLNVGLHLNPLESIQLELDSVNAEADRA
                     LLQVERRFGQIHEYYLEQRNDIIRNIPGFWVTAFRHHPQLSAMIRGQDAEMLSYLTNLE
                     VKELRHPRTGCKFKFFFQRNPYFRNKLIVKVYEVRSFGQVVSFSTLIMWRRGHGPQSFI
                     HRNRHVICSFFTWFSDHSLPESDRIAQIIKEDLWSNPLQYYLLGEDAHRARRRLVREPV
                     EIPRPFGFQCG"
     misc_feature    79..171
                     /gene="TSPYL6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N831.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    103..105
                     /gene="TSPYL6"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N831.1); phosphorylation site"
     misc_feature    214..285
                     /gene="TSPYL6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N831.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3029..3034
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSPYL6"
                     /note="hexamer: AATAAA"
     polyA_site      3052
                     /gene="TSPYL6"
                     /note="major polyA site"
ORIGIN
        1 gccattttgt gtgaggaacg ttgacgctac ctacctctgg cctggcctct acccactgct
       61 gccctggccg ctaccaacat gagcctcccg gagagtcctc acagccccgc tactctcgac
      121 tatgctctgg aagacccgca ccagggccag aggtcccgag aaaagagcaa ggcgacagag
      181 gtaatggcag atatgtttga tggccgcttg gagccaatcg tgttcccacc gccccggctt
      241 ccagaggagg gggtcgcgcc ccaggatccc gcagatggtg gccatacttt ccacatcttg
      301 gtcgatgcgg gtcgcagtca tggagccatc aaagcggggc aggaagtgac tccaccaccc
      361 gcggagggcc tagaagcggc ctctgcctcg ctgacaactg acggcagcct caaaaatggc
      421 tttccgggtg aagagacgca cggcctaggt ggggagaagg ctctagaaac ctgtggggca
      481 gggaggtcgg agtctgaagt gattgcagag gggaaggccg aggacgtgaa gcctgaggag
      541 tgtgccatgt tctcagcccc agtggatgag aagccaggag gcgaagaaat ggacgtggcg
      601 gaagaaaaca gagcaataga tgaggtaaac agggaggcag ggcctgggcc cgggcccggg
      661 cccctgaacg tgggtctcca cctgaacccc ctggagtcca tccagctgga actggactcc
      721 gtgaatgcag aggctgacag ggcgctcctg caggtggagc gcaggtttgg gcagattcat
      781 gaatactacc tggagcagag gaatgacatc attcgcaata tcccgggctt ctgggtcact
      841 gctttccgcc accacccaca gctgtctgcc atgattagag gccaagatgc cgagatgtta
      901 agctacttaa ccaatttgga agtgaaggag ctcagacacc ctaggacagg ctgcaagttt
      961 aagttcttct ttcaaagaaa cccttacttc agaaacaagc tgattgtaaa ggtgtatgag
     1021 gtcagatcct tcggccaagt ggtgtctttt tccactctaa tcatgtggcg ccggggccat
     1081 ggaccccagt ccttcattca taggaaccga catgtcatct gcagcttctt cacctggttt
     1141 tcagaccaca gccttccaga gtccgacagg attgctcaga ttattaaaga ggacctctgg
     1201 tcaaatccac tgcagtacta cctgttgggt gaagacgccc atagagctag acgtcgcctg
     1261 gtaagggagc cagtggagat ccccaggccc tttgggttcc agtgtggtta acctttgcct
     1321 ttggaattac tcctgcagaa ggttgcctgc caccaccagc tggacctgag cttgggcaac
     1381 agcattaggt atgcccttta ctttttttgt tctgactttc ctgtaccctc tgtttaaact
     1441 ttccgttctc tcaacctgaa gattgagacc ttggtggctg tgctgctccc ctttcacctg
     1501 gtcgtcttgc tattctgcat taacatcaca tgctcccagc cgatgggtca catccttcta
     1561 agcgaagcga atgatgctgt aggttacact gtatttacct ttgtttggac tcggtttgtt
     1621 cccaggacct ctggtctggc tcctcctact tggatttcta gctgtgtcta agaacctatt
     1681 cagctcaccc tgctctgcat ctgacagtac aggtgcatgg cctgtggaca attgctgggc
     1741 attaatgaag tcaagggaga acagcagggg gcaagttggt ctgtgtgaat tatgggaccc
     1801 cattactttt cctgagactg gtcacctatt gctgcctgct actggctatt cccaagtact
     1861 gctacttggg cagctccctg ctgagtgaac atatcccaga ccattgccag ctccactctc
     1921 tggtttctaa taaacaggga tctccagaac actggtggtg gacacagctt tcctgtcagc
     1981 acacaaaaga cctgttcctc ttccaaaaga cctctcttta ccaccaccac cctcatcact
     2041 cagaaaccct actgtttgtt agacaggtgg ttgaggggac atgtcagacc ctatcctcat
     2101 ggcaaggtta atatgttggt gttcttgaca agtaccaggc tttctcagcc acaaccagtg
     2161 gattcattca aaatctaggt acctttattt gcctcccttc ctgaacctaa tgaagtgcca
     2221 gagtgagtgt acactttctt ttctctcatc tctcataaat ctcttctgtc ttcctttaaa
     2281 aaaaacaaaa gtagtagttc agaaacatcc gcagaagcag gctttttagt ttcttggctc
     2341 tctttgtcat gtccagaggc aggctgttct gtaaaataga ctgccagacc tcttattgcc
     2401 cattctcctt tcttctcagc ccctcacccc tctttagcaa ttcctagagg gtttaaagga
     2461 ctacagagct gtatggaatg aaaggtgatt tctagttcag agtggataga agaactaaag
     2521 agattgtgat gggtgctcta ggcagggaaa actgaacaaa aaggcagaaa tgattcaggg
     2581 gaaaatcggg cctagaattt acactgggtt gactagttat gatgggaaga gaagtacttt
     2641 tttttagtat gcacgtagaa gaatagaaga tggttggagt gttaaatatg ttccctagag
     2701 aagggttctt tgaagaaaca ctgcaatttt gggtgttctc tttcttgttt gcatatggcc
     2761 ttacttatgt ggaagattaa tactgtgtta taatattttc tctttctgtt tactgggaag
     2821 attcagctgt acagattttc ttttactttc aaatagaaat atttggaata atatcagtct
     2881 ttcttttttg tacattatgt ggatatggat attcatggca gttttcagcc tgttcttgtt
     2941 tctgttaaaa ccgtatcttt aacattttaa tttgaataac ttggtcttat ctgatgcgga
     3001 agactggaaa ctattgtgtt catgggtaaa taaactacaa aatatttatg gc
//
LOCUS       NM_001003938             502 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens hemoglobin subunit mu (HBM), mRNA.
ACCESSION   NM_001003938
VERSION     NM_001003938.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 502)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 502)
  AUTHORS   Hutten M, Kohne E, Yagmur E, Schaible T, Wenzl T, Wagner N and
            Heimann K.
  TITLE     Persistent cyanosis in a 4 month old infant with severe pneumonia
            and haemoglobin M
  JOURNAL   Klin Padiatr 221 (5), 305-307 (2009)
   PUBMED   19199228
  REMARK    GeneRIF: HbM Saskatoon is normally a harmless variant. However, in
            conjunction with severe pneumonia, we assume that it did not only
            affect clinical evaluation, but also exacerbated pneumonia by
            reducing the oxygen binding capacity.
REFERENCE   3  (bases 1 to 502)
  AUTHORS   Cooper SJ, Wheeler D, De Leo A, Cheng JF, Holland RA, Marshall
            Graves JA and Hope RM.
  TITLE     The mammalian alphaD-globin gene lineage and a new model for the
            molecular evolution of alpha-globin gene clusters at the stem of the
            mammalian radiation
  JOURNAL   Mol Phylogenet Evol 38 (2), 439-448 (2006)
   PUBMED   16024261
REFERENCE   4  (bases 1 to 502)
  AUTHORS   Goh SH, Lee YT, Bhanu NV, Cam MC, Desper R, Martin BM, Moharram R,
            Gherman RB and Miller JL.
  TITLE     A newly discovered human alpha-globin gene
  JOURNAL   Blood 106 (4), 1466-1472 (2005)
   PUBMED   15855277
  REMARK    GeneRIF: results suggest the human genome encodes a previously
            unrecognized globin member of the avian alpha-D family that is
            transcribed in a highly regulated pattern in erythroid cells
REFERENCE   5  (bases 1 to 502)
  AUTHORS   Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP and
            Weatherall DJ.
  TITLE     A review of the molecular genetics of the human alpha-globin gene
            cluster
  JOURNAL   Blood 73 (5), 1081-1104 (1989)
   PUBMED   2649166
  REMARK    Review article
REFERENCE   6  (bases 1 to 502)
  AUTHORS   Fischel-Ghodsian N, Nicholls RD and Higgs DR.
  TITLE     Unusual features of CpG-rich (HTF) islands in the human alpha globin
            complex: association with non-functional pseudogenes and presence
            within the 3' portion of the zeta gene
  JOURNAL   Nucleic Acids Res 15 (22), 9215-9225 (1987)
   PUBMED   2825132
REFERENCE   7  (bases 1 to 502)
  AUTHORS   Hardison,R.C., Sawada,I., Cheng,J.F., Shen,C.K. and Schmid,C.W.
  TITLE     A previously undetected pseudogene in the human alpha globin gene
            cluster
  JOURNAL   Nucleic Acids Res 14 (4), 1903-1911 (1986)
   PUBMED   3952001
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC067870.1, AY698022.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142853,
            SAMEA2149004 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000356815.4/ ENSP00000349270.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY698022.2 and BC035682.1.
            On Nov 23, 2018 this sequence version replaced NM_001003938.3.
            Summary: The human alpha globin gene cluster located on chromosome
            16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta
            - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. This gene
            has an ORF encoding a 141 aa polypeptide which is similar to the
            delta globins found in reptiles and birds. This locus was
            originally described as a pseudogene; however, it is currently
            thought to be a protein-coding gene. [provided by RefSeq, Jul
            2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..502
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..502
                     /gene="HBM"
                     /gene_synonym="HBAP2; HBK"
                     /note="hemoglobin subunit mu"
                     /db_xref="GeneID:3042"
                     /db_xref="HGNC:HGNC:4826"
                     /db_xref="MIM:609639"
     CDS             21..446
                     /gene="HBM"
                     /gene_synonym="HBAP2; HBK"
                     /note="hemoglobin, alpha pseudogene 2; alpha globin
                     pseudogene 2; hemoglobin mu chain; mu-globin; hemoglobin,
                     mu"
                     /codon_start=1
                     /product="hemoglobin subunit mu"
                     /protein_id="NP_001003938.1"
                     /db_xref="CCDS:CCDS32347.1"
                     /db_xref="GeneID:3042"
                     /db_xref="HGNC:HGNC:4826"
                     /db_xref="MIM:609639"
                     /translation="MLSAQERAQIAQVWDLIAGHEAQFGAELLLRLFTVYPSTKVYFPH
                     LSACQDATQLLSHGQRMLAAVGAAVQHVDNLRAALSPLADLHALVLRVDPANFPLLIQC
                     FHVVLASHLQDEFTVQMQAAWDKFLTGVAVVLTEKYR"
     regulatory      482..487
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBM"
                     /gene_synonym="HBAP2; HBK"
                     /note="hexamer: AATAAA"
     polyA_site      502
                     /gene="HBM"
                     /gene_synonym="HBAP2; HBK"
                     /note="major polyA site"
ORIGIN
        1 agagcacgtc aggcggcgcc atgctcagcg cccaggagcg cgcccaaatc gcgcaggtct
       61 gggacctgat tgcgggccac gaggcgcaat tcggggcgga gctgctgctc aggctcttca
      121 cggtgtaccc cagcaccaag gtctacttcc cgcacctgag cgcctgccag gacgcgacgc
      181 agctgctgag ccacgggcag cgcatgctgg cggctgtggg cgcggcggtg cagcacgtgg
      241 acaacctgcg cgccgcgctg agcccgctgg cggacctgca cgcgctcgtg ctgcgcgtgg
      301 acccagccaa ctttccgctg ctaatccagt gtttccacgt cgtgctggcc tcccacctgc
      361 aggacgagtt caccgtgcaa atgcaagcgg cgtgggacaa gttcctgact ggtgtggccg
      421 tggtgctgac cgaaaaatac cgctgagccc tgtgctgcgc aggccttggt ctgtgcctgt
      481 caataaacag aggcccgaac ca
//
LOCUS       NM_001003940            4692 bp    mRNA    linear   PRI 24-MAR-2023
DEFINITION  Homo sapiens Bcl2 modifying factor (BMF), transcript variant 1,
            mRNA.
ACCESSION   NM_001003940
VERSION     NM_001003940.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4692)
  AUTHORS   Fedele PL, Liao Y, Gong JN, Yao Y, van Delft MF, Low MSY, Tai L,
            Herold MJ, Jackson JT, Teh CE, Tan T, O'Reilly LA, Tellier J,
            Grigoriadis G, Huang DCS, Shi W, Nutt SL and Willis SN.
  TITLE     The transcription factor IRF4 represses proapoptotic BMF and BIM to
            licence multiple myeloma survival
  JOURNAL   Leukemia 35 (7), 2114-2118 (2021)
   PUBMED   33149265
  REMARK    GeneRIF: The transcription factor IRF4 represses proapoptotic BMF
            and BIM to licence multiple myeloma survival.
REFERENCE   2  (bases 1 to 4692)
  AUTHORS   Xu F, Li J, Ni M, Cheng J, Zhao H, Wang S, Zhou X and Wu X.
  TITLE     FBW7 suppresses ovarian cancer development by targeting the
            N6-methyladenosine binding protein YTHDF2
  JOURNAL   Mol Cancer 20 (1), 45 (2021)
   PUBMED   33658012
  REMARK    GeneRIF: FBW7 suppresses ovarian cancer development by targeting the
            N(6)-methyladenosine binding protein YTHDF2. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 4692)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 4692)
  AUTHORS   Ye K, Meng WX, Sun H, Wu B, Chen M, Pang YP, Gao J, Wang H, Wang J,
            Kaufmann SH and Dai H.
  TITLE     Characterization of an alternative BAK-binding site for BH3 peptides
  JOURNAL   Nat Commun 11 (1), 3301 (2020)
   PUBMED   32620849
  REMARK    GeneRIF: Characterization of an alternative BAK-binding site for BH3
            peptides. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4692)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 4692)
  AUTHORS   Day CL, Puthalakath H, Skea G, Strasser A, Barsukov I, Lian LY,
            Huang DC and Hinds MG.
  TITLE     Localization of dynein light chains 1 and 2 and their pro-apoptotic
            ligands
  JOURNAL   Biochem J 377 (Pt 3), 597-605 (2004)
   PUBMED   14561217
REFERENCE   7  (bases 1 to 4692)
  AUTHORS   Morales AA, Olsson A, Celsing F, Osterborg A, Jondal M and Osorio
            LM.
  TITLE     Expression and transcriptional regulation of functionally distinct
            Bmf isoforms in B-chronic lymphocytic leukemia cells
  JOURNAL   Leukemia 18 (1), 41-47 (2004)
   PUBMED   14574334
  REMARK    GeneRIF: Up or downregulation of Bmf isoforms may have a role in
            regulating growth and survival in B cells and leukemic B-CLL cells
REFERENCE   8  (bases 1 to 4692)
  AUTHORS   Lei K and Davis RJ.
  TITLE     JNK phosphorylation of Bim-related members of the Bcl2 family
            induces Bax-dependent apoptosis
  JOURNAL   Proc Natl Acad Sci U S A 100 (5), 2432-2437 (2003)
   PUBMED   12591950
REFERENCE   9  (bases 1 to 4692)
  AUTHORS   Puthalakath H, Villunger A, O'Reilly LA, Beaumont JG, Coultas L,
            Cheney RE, Huang DC and Strasser A.
  TITLE     Bmf: a proapoptotic BH3-only protein regulated by interaction with
            the myosin V actin motor complex, activated by anoikis
  JOURNAL   Science 293 (5536), 1829-1832 (2001)
   PUBMED   11546872
  REMARK    Erratum:[Science 2002 Aug 16;297(5584):1122]
REFERENCE   10  (bases 1 to 4692)
  AUTHORS   Hattori A, Okumura K, Nagase T, Kikuno R, Hirosawa M and Ohara O.
  TITLE     Characterization of long cDNA clones from human adult spleen
  JOURNAL   DNA Res 7 (6), 357-366 (2000)
   PUBMED   11214971
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC070043.1, SRR1163655.633331.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000354670.9/ ENSP00000346697.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021755.9.
            On Nov 22, 2018 this sequence version replaced NM_001003940.1.
            Summary: The protein encoded by this gene belongs to the BCL2
            protein family. BCL2 family members form hetero- or homodimers and
            act as anti- or pro-apoptotic regulators that are involved in a
            wide variety of cellular activities. This protein contains a single
            BCL2 homology domain 3 (BH3), and has been shown to bind BCL2
            proteins and function as an apoptotic activator. This protein is
            found to be sequestered to myosin V motors by its association with
            dynein light chain 2, which may be important for sensing
            intracellular damage and triggering apoptosis. Alternatively
            spliced transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript. Transcript variants 1 and 2 encode the longest isoform
            (bmf-1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4692
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     gene            1..4692
                     /gene="BMF"
                     /note="Bcl2 modifying factor"
                     /db_xref="GeneID:90427"
                     /db_xref="HGNC:HGNC:24132"
                     /db_xref="MIM:606266"
     CDS             241..795
                     /gene="BMF"
                     /note="isoform bmf-1 is encoded by transcript variant 1;
                     bcl-2-modifying factor"
                     /codon_start=1
                     /product="bcl-2-modifying factor isoform bmf-1"
                     /protein_id="NP_001003940.1"
                     /db_xref="CCDS:CCDS10052.1"
                     /db_xref="GeneID:90427"
                     /db_xref="HGNC:HGNC:24132"
                     /db_xref="MIM:606266"
                     /translation="MEPSQCVEELEDDVFQPEDGEPVTQPGSLLSADLFAQSLLDCPLS
                     RLQLFPLTHCCGPGLRPTSQEDKATQTLSPASPSQGVMLPCGVTEEPQRLFYGNAGYRL
                     PLPASFPAVLPIGEQPPEGQWQHQAEVQIARKLQCIADQFHRLHVQQHQQNQNRVWWQI
                     LLFLHNLALNGEENRNGAGPR"
     misc_feature    439..465
                     /gene="BMF"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LC9.1);
                     Region: Interaction with DLC2. /evidence=ECO:0000250"
     misc_feature    637..681
                     /gene="BMF"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LC9.1);
                     Region: BH3"
     regulatory      4672..4677
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BMF"
                     /note="hexamer: AATAAA"
     polyA_site      4692
                     /gene="BMF"
                     /note="major polyA site"
ORIGIN
        1 attttggaaa caataccgca ccgtgcggag tggcctcctc ccgccccggc ctgtgcccgc
       61 cgccgccgcc gcccctgcct gcgcctcccg cctcctgccg cagcccgctg ggctttttcc
      121 ctccttccca atcgagtctg ggcgtccagc ccccgagtgc tcgtcacgct ggaccctggc
      181 gcggagccct ggcatcacga ctcggaggcc gagactctct cctggagtca cccaggagag
      241 atggagccat ctcagtgtgt ggaggagctg gaggatgatg tgttccaacc agaggatggg
      301 gagccggtga cccaacccgg gagcttgctc tctgctgacc tgtttgccca gagcctactg
      361 gactgccccc tcagccgact tcagctcttc cctctcaccc actgctgtgg ccctggcctt
      421 cgacccacca gccaggaaga caaagctacc cagactctca gcccagcctc ccccagccaa
      481 ggtgtcatgc tgccttgtgg ggtgactgag gaaccccagc gactctttta tggcaatgct
      541 ggctatcggc ttcctctccc tgccagtttc ccagcagtct tgcccattgg ggagcagccc
      601 cccgaagggc agtggcaaca tcaagcagag gtacagattg cccgaaagct tcagtgcatt
      661 gcagaccagt tccaccggct tcatgtgcag caacaccagc agaaccaaaa tcgtgtgtgg
      721 tggcagatcc tcctcttcct gcacaacctt gctttgaatg gagaagagaa caggaacggg
      781 gcaggcccta ggtgagggtg ggctgccctc ttcacatggg gcaccaggaa caccgtctgg
      841 aacaggaagg acatcgggca ggactgacac tgtgtcttgt gaaattgttt ttttgttgtt
      901 attttgtgtt ttaatttttt ttaatttctc tctgagtgta catacaacat actcaagcgg
      961 gaccttcttt ctctgtcagg cccttgacct ggaatggggg cctttgtcaa acactgttga
     1021 aggagaggct gatgtgtctg tgatggtgag aattcccaag ggctctgaca agtagattct
     1081 tcgactgagg aatctaccag ttgtcgaaga tgatccgtta gtgatgttct ctgggaagtg
     1141 gactgtggtt tttccagagg aactcagtta agaaatcgag agtggattag actcccagtt
     1201 ccaccaaacc tatgagcctt ccactgtgga tgggggccgt gatcctgatg gtcacattgc
     1261 tttaacccag cagggcttcg gccaggggct ttccacttga ggatagcagc ttcactaggc
     1321 tggccggcca gctccacatc tgactgggtt cttacttctc agccagtacc tgccccatgg
     1381 gctcaaggat tcctggccag ctcctgccac ctccagcaga cctcagggag ggttgagttt
     1441 ctctaaggac ccctcaaaca tgtcgcaaaa tgaaccaaac ttctggctag gcctcaaaac
     1501 tgacttggtc ccacttggag gccccaggat tggtcctgag gtacagagcc actgccacca
     1561 ctggcggcct gggaccagct gggtgtcagc cacggatgag ccgaatagcc agtcagcatg
     1621 ttgctgctgg cagcctgtgc ctttgtcagc tcttctttca aaagacccca ccgacagacc
     1681 gcattccacc cccaacatcg gcactgaggg acatcggggg caagtttgca gtggggccgg
     1741 aaaatatggt ggccacccta ccatgagagt cagccgtagg ggaccccaga ccccttggtt
     1801 tccttggaaa caacatacct cttccccctt atccccagtc ctttttcata cctagtggga
     1861 tacagaagaa gccaggacag tggctttgcc agctaagtga cttttagagt aacagataac
     1921 gattagagtg gggaaccgtc aaagctgggt acacatttcc tatcttcctc cagcttccag
     1981 ctaggccaga agggcatgct ctggaaccca gcaggatcac agctgcctgt gcacgtcttc
     2041 ccttctctcc ctgctgcggc acttatggag aggatctaaa gcagccggtg tggcagctcc
     2101 gatagcaggc acagggaatc tgttaaccag acgctagaaa ctaaattata acttttgcat
     2161 atgtgagaaa agacaacatt ggtgctaaca gtgaagtaag gcccaaagga aagacggctt
     2221 ccctggacaa agaagacctc agggctaccc aaggaaatag gaggagtcta gagtagactc
     2281 acaaatctga acaagcccaa gtcttccagt tctgaggaga ggaggtcttc agtactattg
     2341 aaggagacat tgatcttctg gatgtacagt tgtgcaggtt gttcactgca caagggcacc
     2401 tgcagctaat ggaggctgga attcagcttg tgttctgctc actaagctgt gtgcgtgccc
     2461 tggtgtgggg ctacttctcc caagaagaag gggtgccttt cctaatttgc aaaggtgcca
     2521 tatgggctca cagcaccctg gaggagaagg gcctcaaact gtgcatgtaa gcctttgttt
     2581 tgttctgctc agatattctg gatattacct cttcttggtc agaattctat tctcagggtg
     2641 tgtaccatga tttgtctgct aagaagacgg gttcctgctt tgcagagaag gagccgggga
     2701 ccagcttgaa gactggctct gggacacact gaccattgtg aaattcagcc ttccctgtgg
     2761 gtctccatac cattttatga tgtgtatggg acatacgttg ttctcccctc tctggatcaa
     2821 ggtggtgaca ggcagcctgc tgccgtatgc ttcagtggca cacaccaaaa aaccgggatt
     2881 atttacagca gccactattc accccttttg gcagactctc cacctgagtt cagtgagaga
     2941 gaaaatgatt tagatcttgg tgctggggca aggccatcag cttcagagac cttgccaggc
     3001 ccaggctggg tgccctgtgg cctgagaact gagcccagac tttgacaaac ccacctcaac
     3061 atcaagcctg gggcaggtgg aaggtggtct gactgcactg tctccatctt atgcaaagcc
     3121 aggaactcac tcactgtctt aagtgagcca gggcaaaatt tacacccctc acgtttccct
     3181 ctcccttctt ccccaccaac aaaacccagg aggtagctgg cagagtagct gtcaggaagg
     3241 agaaaggttc tttctggctg gttgttttta attggcttag tgatctaaac tggccccttc
     3301 ctcctctgcc tggtgagttg gcctaaacat tcctcaagtc tagcctcagg agacctgccc
     3361 ctcccccccg acctccaccc cctcagactc catcccccac ccccaggagc ctggctgtct
     3421 ctagcgaggg gtggagaatc agatttagag ggagggagag tctgacctgg atcctgacct
     3481 gtaaccagct gaagacggtg gaggctttgt ggcttgctga gggtgggggt tgggagaggg
     3541 actggaaacc ttcctcctcg ggaaagaaat gcctgggagg aagggaagcc tgatattcag
     3601 ggtcaaaaca gcccttctaa ttcacaaccc caaagcaggg gtttctagaa gttggtcaac
     3661 agatctggtg agggaagtcc ccaggccaga cgctggactc ctgcaatgag ggtggaggac
     3721 tcagcctggc ctctgcctgg cctgtttcaa agtctgggcc actggcagcc ttctcttgct
     3781 caatccgagg tggaaaaaga tcacctccca gtgacctccc tcagccccca ggggagtagg
     3841 tctgtgtcca aagctatgtg gcaggcttgt ttgaaggacc cagaggggcc cagctgacct
     3901 gtctcactgc tcctggcagc ccagccccat cggcaggtgg cccctgcctg ggggttattc
     3961 gggatggttc agccagggcc tcccaggaag agtgctgtgg agccacggtg actgtcctgg
     4021 acagcaagga gcatgctacc ccagtgagca cttctttttg agggacttga tggggaggtg
     4081 gggtaggcag aagggacgtg gcagaagcgg gaagactttg gtcaccatgg ctctgcaggc
     4141 cttctgcaaa tcagtgctgg cctgggctgg aaacagctct gtgtgtgaag gtgaggactc
     4201 ttggaagcag gccatcctgg ccagacaccc tagcaggaag gggctcacct gtcaccctta
     4261 ggcagcctga gggctggtgg ggacttttga gtcttgaggg gatagcggaa aaagctgagc
     4321 tcataggtgc ccagccagcc tcccagctaa aggtgctcag agccccactg ccccctctct
     4381 ctgtgcaggt ggccagtgcc cctccctgct ctgggagcat tgctagcctt ctaccccatc
     4441 cctggatcca caggggctat cgaggagacc cagtgagaat gtagcatttt gttcatcccc
     4501 agggtagctg ccctggggtc tgggcactct gcctctggga gagaggaaga agaaaggggc
     4561 cccatttttt aaaaaactgt acagagcctt tggctttatg tgtttatgtt cttcacatgc
     4621 atatgtgtgt atgtgtgtat atctttcccc ccatcaattg gtacaatttt taataaaatc
     4681 atttaaagca aa
//
LOCUS       NM_001004                462 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein lateral stalk subunit P2 (RPLP2),
            mRNA.
ACCESSION   NM_001004
VERSION     NM_001004.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 462)
  AUTHORS   Horbowicz-Drozdzal P, Kamel K, Kmiecik S, Borkiewicz L, Tumer NE,
            Shaw PC, Tchorzewski M and Grela P.
  TITLE     Phosphorylation of the conserved C-terminal domain of ribosomal
            P-proteins impairs the mode of interaction with plant toxins
  JOURNAL   FEBS Lett 595 (17), 2221-2236 (2021)
   PUBMED   34328639
  REMARK    GeneRIF: Phosphorylation of the conserved C-terminal domain of
            ribosomal P-proteins impairs the mode of interaction with plant
            toxins.
REFERENCE   2  (bases 1 to 462)
  AUTHORS   Cai Z, Wu Y, Zhang F and Wu H.
  TITLE     A three-gene signature and clinical outcome in pediatric acute
            myeloid leukemia
  JOURNAL   Clin Transl Oncol 23 (4), 866-873 (2021)
   PUBMED   32862280
  REMARK    GeneRIF: A three-gene signature and clinical outcome in pediatric
            acute myeloid leukemia.
REFERENCE   3  (bases 1 to 462)
  AUTHORS   Campos RK, Wijeratne HRS, Shah P, Garcia-Blanco MA and Bradrick SS.
  TITLE     Ribosomal stalk proteins RPLP1 and RPLP2 promote biogenesis of
            flaviviral and cellular multi-pass transmembrane proteins
  JOURNAL   Nucleic Acids Res 48 (17), 9872-9885 (2020)
   PUBMED   32890404
  REMARK    GeneRIF: Ribosomal stalk proteins RPLP1 and RPLP2 promote biogenesis
            of flaviviral and cellular multi-pass transmembrane proteins.
REFERENCE   4  (bases 1 to 462)
  AUTHORS   Jiang D, Izumi K, Ueda T, Oshima K, Nakashima T and Kimura M.
  TITLE     Functional characterization of archaeal homologs of human nuclear
            RNase P proteins Rpp21 and Rpp29 provides insights into the
            molecular basis of their cooperativity in catalysis
  JOURNAL   Biochem Biophys Res Commun 482 (1), 68-74 (2017)
   PUBMED   27810361
  REMARK    GeneRIF: Collectively, the present results suggest that PhoRpp21
            binds the loop between P11 and P12 helices through overall
            positively charged clusters on the surface of the complex and serves
            as a scaffold for PhoRpp29 to optimize structural conformation of
            its N-terminal helix (alpha2) in PhoRpp21, as well as C-terminal
            residues in PhoRpp29, for RNase P activity.
REFERENCE   5  (bases 1 to 462)
  AUTHORS   Artero-Castro A, Perez-Alea M, Feliciano A, Leal JA, Genestar M,
            Castellvi J, Peg V, Ramon Y Cajal S and Lleonart ME.
  TITLE     Disruption of the ribosomal P complex leads to stress-induced
            autophagy
  JOURNAL   Autophagy 11 (9), 1499-1519 (2015)
   PUBMED   26176264
  REMARK    GeneRIF: absence of RPLP0, RPLP1, or RPLP2 resulted in reactive
            oxygen species (ROS) accumulation and MAPK1/ERK2 signaling pathway
            activation.
REFERENCE   6  (bases 1 to 462)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   7  (bases 1 to 462)
  AUTHORS   Matoba R, Okubo K, Hori N, Fukushima A and Matsubara K.
  TITLE     The addition of 5'-coding information to a 3'-directed cDNA library
            improves analysis of gene expression
  JOURNAL   Gene 146 (2), 199-207 (1994)
   PUBMED   8076819
REFERENCE   8  (bases 1 to 462)
  AUTHORS   Hochstrasser DF, Frutiger S, Paquet N, Bairoch A, Ravier F, Pasquali
            C, Sanchez JC, Tissot JD, Bjellqvist B, Vargas R et al.
  TITLE     Human liver protein map: a reference database established by
            microsequencing and gel comparison
  JOURNAL   Electrophoresis 13 (12), 992-1001 (1992)
   PUBMED   1286669
REFERENCE   9  (bases 1 to 462)
  AUTHORS   Sharp MG, Adams SM, Elvin P, Walker RA, Brammar WJ and Varley JM.
  TITLE     A sequence previously identified as metastasis-related encodes an
            acidic ribosomal phosphoprotein, P2
  JOURNAL   Br J Cancer 61 (1), 83-88 (1990)
   PUBMED   2153399
REFERENCE   10  (bases 1 to 462)
  AUTHORS   Rich BE and Steitz JA.
  TITLE     Human acidic ribosomal phosphoproteins P0, P1, and P2: analysis of
            cDNA clones, in vitro synthesis, and assembly
  JOURNAL   Mol Cell Biol 7 (11), 4065-4074 (1987)
   PUBMED   3323886
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CB152601.1, DB577310.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000321153.9/ ENSP00000322419.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BC005354.1 and BC007573.1.
            On Nov 22, 2018 this sequence version replaced NM_001004.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            phosphoprotein that is a component of the 60S subunit. The protein,
            which is a functional equivalent of the E. coli L7/L12 ribosomal
            protein, belongs to the L12P family of ribosomal proteins. It plays
            an important role in the elongation step of protein synthesis.
            Unlike most ribosomal proteins, which are basic, the encoded
            protein is acidic. Its C-terminal end is nearly identical to the
            C-terminal ends of the ribosomal phosphoproteins P0 and P1. The P2
            protein can interact with P0 and P1 to form a pentameric complex
            consisting of P1 and P2 dimers, and a P0 monomer. The protein is
            located in the cytoplasm. As is typical for genes encoding
            ribosomal proteins, there are multiple processed pseudogenes of
            this gene dispersed through the genome. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..462
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..462
                     /gene="RPLP2"
                     /gene_synonym="D11S2243E; LP2; P2; RPP2"
                     /note="ribosomal protein lateral stalk subunit P2"
                     /db_xref="GeneID:6181"
                     /db_xref="HGNC:HGNC:10377"
                     /db_xref="MIM:180530"
     misc_feature    2
                     /gene="RPLP2"
                     /gene_synonym="D11S2243E; LP2; P2; RPP2"
                     /note="predominant transcription initiation site"
     misc_feature    36..38
                     /gene="RPLP2"
                     /gene_synonym="D11S2243E; LP2; P2; RPP2"
                     /note="upstream in-frame stop codon"
     CDS             75..422
                     /gene="RPLP2"
                     /gene_synonym="D11S2243E; LP2; P2; RPP2"
                     /note="60S acidic ribosomal protein P2; acidic ribosomal
                     phosphoprotein P2; renal carcinoma antigen NY-REN-44;
                     ribosomal protein, large, P2"
                     /codon_start=1
                     /product="large ribosomal subunit protein P2"
                     /protein_id="NP_000995.1"
                     /db_xref="CCDS:CCDS7717.1"
                     /db_xref="GeneID:6181"
                     /db_xref="HGNC:HGNC:10377"
                     /db_xref="MIM:180530"
                     /translation="MRYVASYLLAALGGNSSPSAKDIKKILDSVGIEADDDRLNKVISE
                     LNGKNIEDVIAQGIGKLASVPAGGAVAVSAAPGSAAPAAGSAPAAAEEKKDEKKEESEE
                     SDDDMGFGLFD"
     misc_feature    75..77
                     /gene="RPLP2"
                     /gene_synonym="D11S2243E; LP2; P2; RPP2"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P05387.1); acetylation site"
     misc_feature    123..125
                     /gene="RPLP2"
                     /gene_synonym="D11S2243E; LP2; P2; RPP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05387.1); phosphorylation site"
     misc_feature    129..131
                     /gene="RPLP2"
                     /gene_synonym="D11S2243E; LP2; P2; RPP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P05387.1); phosphorylation site"
     misc_feature    135..137
                     /gene="RPLP2"
                     /gene_synonym="D11S2243E; LP2; P2; RPP2"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P05387.1); acetylation site"
     misc_feature    306..419
                     /gene="RPLP2"
                     /gene_synonym="D11S2243E; LP2; P2; RPP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P05387.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    309..311
                     /gene="RPLP2"
                     /gene_synonym="D11S2243E; LP2; P2; RPP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P05387.1);
                     phosphorylation site"
     misc_feature    330..332
                     /gene="RPLP2"
                     /gene_synonym="D11S2243E; LP2; P2; RPP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P05387.1);
                     phosphorylation site"
     misc_feature    378..380
                     /gene="RPLP2"
                     /gene_synonym="D11S2243E; LP2; P2; RPP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14997482; propagated from
                     UniProtKB/Swiss-Prot (P05387.1); phosphorylation site"
     misc_feature    387..389
                     /gene="RPLP2"
                     /gene_synonym="D11S2243E; LP2; P2; RPP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P99027; propagated from
                     UniProtKB/Swiss-Prot (P05387.1); phosphorylation site"
     regulatory      440..445
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPLP2"
                     /gene_synonym="D11S2243E; LP2; P2; RPP2"
                     /note="hexamer: AATAAA"
     polyA_site      462
                     /gene="RPLP2"
                     /gene_synonym="D11S2243E; LP2; P2; RPP2"
                     /note="major polyA site"
ORIGIN
        1 ccttttcctc cctgtcgcca ccgaggtcgc acgcgtgaga cttctccgcc gcctccgccg
       61 cagacgccgc cgcgatgcgc tacgtcgcct cctacctgct ggctgcccta gggggcaact
      121 cctcccccag cgccaaggac atcaagaaga tcttggacag cgtgggtatc gaggcggacg
      181 acgaccggct caacaaggtt atcagtgagc tgaatggaaa aaacattgaa gacgtcattg
      241 cccagggtat tggcaagctt gccagtgtac ctgctggtgg ggctgtagcc gtctctgctg
      301 ccccaggctc tgcagcccct gctgctggtt ctgcccctgc tgcagcagag gagaagaaag
      361 atgagaagaa ggaggagtct gaagagtcag atgatgacat gggatttggc ctttttgatt
      421 aaattcctgc tcccctgcaa ataaagcctt tttacacatc tc
//
LOCUS       NM_001004019            4306 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens fibulin 2 (FBLN2), transcript variant 1, mRNA.
ACCESSION   NM_001004019
VERSION     NM_001004019.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4306)
  AUTHORS   Liu J, He S, Ma B, Li X, Wang Y and Xiong J.
  TITLE     TMT-based quantitative proteomic analysis revealed that FBLN2 and
            NPR3 are involved in the early osteogenic differentiation of
            mesenchymal stem cells (MSCs)
  JOURNAL   Aging (Albany NY) 15 (15), 7637-7654 (2023)
   PUBMED   37543430
  REMARK    GeneRIF: TMT-based quantitative proteomic analysis revealed that
            FBLN2 and NPR3 are involved in the early osteogenic differentiation
            of mesenchymal stem cells (MSCs).
REFERENCE   2  (bases 1 to 4306)
  AUTHORS   Hu X, Liu T, Li L, Gan H, Wang T, Pang P and Mao J.
  TITLE     Fibulin-2 Facilitates Malignant Progression of Hepatocellular
            Carcinoma
  JOURNAL   Turk J Gastroenterol 34 (6), 635-644 (2023)
   PUBMED   37162505
  REMARK    GeneRIF: Fibulin-2 Facilitates Malignant Progression of
            Hepatocellular Carcinoma.
REFERENCE   3  (bases 1 to 4306)
  AUTHORS   Zhang Y, Zhang W, Zhang R and Xia Y.
  TITLE     Knockdown of FBLN2 suppresses TGF-beta1-induced MRC-5 cell migration
            and fibrosis by downregulating VTN
  JOURNAL   Tissue Cell 81, 102005 (2023)
   PUBMED   36608640
  REMARK    GeneRIF: Knockdown of FBLN2 suppresses TGF-beta1-induced MRC-5 cell
            migration and fibrosis by downregulating VTN.
REFERENCE   4  (bases 1 to 4306)
  AUTHORS   Vaes N, Schonkeren SL, Rademakers G, Holland AM, Koch A, Gijbels MJ,
            Keulers TG, de Wit M, Moonen L, Van der Meer JRM, van den Boezem E,
            Wolfs TGAM, Threadgill DW, Demmers J, Fijneman RJA, Jimenez CR,
            Vanden Berghe P, Smits KM, Rouschop KMA, Boesmans W, Hofstra RMW and
            Melotte V.
  TITLE     Loss of enteric neuronal Ndrg4 promotes colorectal cancer via
            increased release of Nid1 and Fbln2
  JOURNAL   EMBO Rep 22 (6), e51913 (2021)
   PUBMED   33890711
  REMARK    GeneRIF: Loss of enteric neuronal Ndrg4 promotes colorectal cancer
            via increased release of Nid1 and Fbln2.
REFERENCE   5  (bases 1 to 4306)
  AUTHORS   Zhu N, Swietlik EM, Welch CL, Pauciulo MW, Hagen JJ, Zhou X, Guo Y,
            Karten J, Pandya D, Tilly T, Lutz KA, Martin JM, Treacy CM,
            Rosenzweig EB, Krishnan U, Coleman AW, Gonzaga-Jauregui C, Lawrie A,
            Trembath RC, Wilkins MR, Morrell NW, Shen Y, Graf S, Nichols WC and
            Chung WK.
  CONSRTM   Regeneron Genetics Center; PAH Biobank Enrolling Centers'
            Investigators; NIHR BioResource for Translational Research - Rare
            Diseases; National Cohort Study of Idiopathic and Heritable PAH
  TITLE     Rare variant analysis of 4241 pulmonary arterial hypertension cases
            from an international consortium implicates FBLN2, PDGFD, and rare
            de novo variants in PAH
  JOURNAL   Genome Med 13 (1), 80 (2021)
   PUBMED   33971972
  REMARK    GeneRIF: Rare variant analysis of 4241 pulmonary arterial
            hypertension cases from an international consortium implicates
            FBLN2, PDGFD, and rare de novo variants in PAH. Erratum:[Genome Med.
            2021 Jun 22;13(1):106. PMID: 34158098] Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 4306)
  AUTHORS   Reinhardt DP, Sasaki T, Dzamba BJ, Keene DR, Chu ML, Gohring W,
            Timpl R and Sakai LY.
  TITLE     Fibrillin-1 and fibulin-2 interact and are colocalized in some
            tissues
  JOURNAL   J Biol Chem 271 (32), 19489-19496 (1996)
   PUBMED   8702639
REFERENCE   7  (bases 1 to 4306)
  AUTHORS   Miosge N, Gotz W, Sasaki T, Chu ML, Timpl R and Herken R.
  TITLE     The extracellular matrix proteins fibulin-1 and fibulin-2 in the
            early human embryo
  JOURNAL   Histochem J 28 (2), 109-116 (1996)
   PUBMED   8737292
REFERENCE   8  (bases 1 to 4306)
  AUTHORS   Sasaki T, Gohring W, Pan TC, Chu ML and Timpl R.
  TITLE     Binding of mouse and human fibulin-2 to extracellular matrix ligands
  JOURNAL   J Mol Biol 254 (5), 892-899 (1995)
   PUBMED   7500359
REFERENCE   9  (bases 1 to 4306)
  AUTHORS   Zhang RZ, Pan TC, Zhang ZY, Mattei MG, Timpl R and Chu ML.
  TITLE     Fibulin-2 (FBLN2): human cDNA sequence, mRNA expression, and mapping
            of the gene on human and mouse chromosomes
  JOURNAL   Genomics 22 (2), 425-430 (1994)
   PUBMED   7806230
REFERENCE   10  (bases 1 to 4306)
  AUTHORS   Pan TC, Sasaki T, Zhang RZ, Fassler R, Timpl R and Chu ML.
  TITLE     Structure and expression of fibulin-2, a novel extracellular matrix
            protein with multiple EGF-like repeats and consensus motifs for
            calcium binding
  JOURNAL   J Cell Biol 123 (5), 1269-1277 (1993)
   PUBMED   8245130
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1519035.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000404922.8/ ENSP00000384169.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB959783.1, BC051690.1,
            AY130459.1 and AL050095.1.
            On Nov 22, 2018 this sequence version replaced NM_001004019.1.
            Summary: This gene encodes an extracellular matrix protein, which
            belongs to the fibulin family. This protein binds various
            extracellular ligands and calcium. It may play a role during organ
            development, in particular, during the differentiation of heart,
            skeletal and neuronal structures. Alternatively spliced transcript
            variants encoding different isoforms have been identified.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents use of an alternate
            promoter and 5' UTR, compared to variant 3, and encodes the longer
            isoform (a). Both variants 1 and 3 encode the same isoform.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4306
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.1"
     gene            1..4306
                     /gene="FBLN2"
                     /note="fibulin 2"
                     /db_xref="GeneID:2199"
                     /db_xref="HGNC:HGNC:3601"
                     /db_xref="MIM:135821"
     CDS             126..3821
                     /gene="FBLN2"
                     /note="isoform a precursor is encoded by transcript variant
                     1; FIBL-2"
                     /codon_start=1
                     /product="fibulin-2 isoform a precursor"
                     /protein_id="NP_001004019.1"
                     /db_xref="CCDS:CCDS46761.1"
                     /db_xref="GeneID:2199"
                     /db_xref="HGNC:HGNC:3601"
                     /db_xref="MIM:135821"
                     /translation="MVLLWEPAGAWLALGLALALGPSVAAAAPRQDCTGVECPPLENCI
                     EEALEPGACCATCVQQGCACEGYQYYDCLQGGFVRGRVPAGQSYFVDFGSTECSCPPGG
                     GKISCQFMLCPELPPNCIEAVVVADSCPQCGQVGCVHAGHKYAAGHTVHLPPCRACHCP
                     DAGGELICYQLPGCHGNFSDAEEGDPERHYEDPYSYDQEVAEVEAATALGGEVQAGAVQ
                     AGAGGPPAALGGGSQPLSTIQAPPWPAVLPRPTAAAALGPPAPVQAKARRVTEDSEEEE
                     EEEEEREEMAVTEQLAAGGHRGLDGLPTTAPAGPSLPIQEERAEAGARAEAGARPEENL
                     ILDAQATSRSTGPEGVTHAPSLGKAALVPTQAVPGSPRDPVKPSPHNILSTSLPDAAWI
                     PPTREVPRKPQVLPHSHVEEDTDPNSVHSIPRSSPEGSTKDLIETCCAAGQQWAIDNDE
                     CLEIPESGTEDNVCRTAQRHCCVSYLQEKSCMAGVLGAKEGETCGAEDNDSCGISLYKQ
                     CCDCCGLGLRVRAEGQSCESNPNLGYPCNHVMLSCCEGEEPLIVPEVRRPPEPAAAPRR
                     VSEAEMAGREALSLGTEAELPNSLPGDDQDECLLLPGELCQHLCINTVGSYHCACFPGF
                     SLQDDGRTCRPEGHPPQPEAPQEPALKSEFSQVASNTIPLPLPQPNTCKDNGPCKQVCS
                     TVGGSAICSCFPGYAIMADGVSCEDQDECLMGAHDCSRRQFCVNTLGSFYCVNHTVLCA
                     DGYILNAHRKCVDINECVTDLHTCSRGEHCVNTLGSFHCYKALTCEPGYALKDGECEDV
                     DECAMGTHTCQPGFLCQNTKGSFYCQARQRCMDGFLQDPEGNCVDINECTSLSEPCRPG
                     FSCINTVGSYTCQRNPLICARGYHASDDGTKCVDVNECETGVHRCGEGQVCHNLPGSYR
                     CDCKAGFQRDAFGRGCIDVNECWASPGRLCQHTCENTLGSYRCSCASGFLLAADGKRCE
                     DVNECEAQRCSQECANIYGSYQCYCRQGYQLAEDGHTCTDIDECAQGAGILCTFRCLNV
                     PGSYQCACPEQGYTMTANGRSCKDVDECALGTHNCSEAETCHNIQGSFRCLRFECPPNY
                     VQVSKTKCERTTCHDFLECQNSPARITHYQLNFQTGLLVPAHIFRIGPAPAFTGDTIAL
                     NIIKGNEEGYFGTRRLNAYTGVVYLQRAVLEPRDFALDVEMKLWRQGSVTTFLAKMHIF
                     FTTFAL"
     sig_peptide     126..206
                     /gene="FBLN2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     207..3818
                     /gene="FBLN2"
                     /product="fibulin-2 isoform a"
     regulatory      4287..4292
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBLN2"
                     /note="hexamer: TATAAA"
     polyA_site      4306
                     /gene="FBLN2"
                     /note="major polyA site"
ORIGIN
        1 gcacacagcc aggggccgcc cgggctctcg acgcgccgac ggccgggcgg acggacggac
       61 ggacgccgag cgcagtgccc cgcgggtctt acaggagagg ggaccgtcct gggctggcct
      121 ggaccatggt gctgctctgg gagcctgcag gagcctggct tgctctgggc ctggccctgg
      181 ccctgggccc cagcgtggcc gcagctgccc ctcggcagga ctgcacgggc gtggagtgcc
      241 cgccgctgga gaactgcatt gaggaggcgc tggagccggg tgcctgctgt gccacgtgtg
      301 tgcagcaggg ctgcgcctgc gagggctacc agtactatga ctgcctacag ggtggcttcg
      361 tgcgcggccg cgtgcccgcc ggtcagtcct attttgtgga cttcgggagc actgagtgct
      421 cctgcccacc aggcggcggc aagatcagct gccagttcat gctgtgcccg gagctgccgc
      481 ccaactgcat cgaggctgta gtggtggctg acagctgccc acagtgcggc caggtgggct
      541 gcgtccacgc gggccacaag tacgccgctg gccacactgt tcacctgccg ccctgccggg
      601 cctgccactg ccctgacgcc ggtggagagc tcatctgcta ccagctcccc ggttgccacg
      661 ggaacttctc agatgccgag gagggtgacc ccgagcgaca ctacgaagac ccctacagct
      721 atgaccagga ggtggccgag gtggaagcag caacagccct ggggggtgag gtccaggcgg
      781 gtgcagtcca ggcaggcgca gggggccccc cagctgctct gggaggtggg agtcagccac
      841 tgtccaccat ccaggcaccc ccctggccag ctgtcctccc caggcccaca gcggctgctg
      901 ccctgggtcc cccagcccca gtgcaggcca aagctaggag agtgaccgag gacagtgagg
      961 aggaagaaga ggaggaggag gagagagagg aaatggctgt cactgagcag ctggcagcag
     1021 gtggccacag ggggctggat gggctgccca ctacagcccc agctggaccc agtcttccta
     1081 tccaggagga gagggcagaa gctggggcaa gggcagaagc tggggcaagg cctgaagaga
     1141 acctcatcct ggatgcccaa gccacgtccc gcagcactgg gccggagggc gtgacgcatg
     1201 caccgagcct gggcaaggct gctctcgtcc caactcaggc cgtgcctggc tctcccaggg
     1261 acccagtcaa gcccagcccc cacaacatcc tgtccacatc actgcctgat gcagcctgga
     1321 tcccacccac ccgagaagtg cccaggaagc cgcaagttct gccccattcc cacgtggagg
     1381 aggacacaga ccccaactct gtccattcta tccccagaag tagccctgaa ggctccacca
     1441 aggacctgat cgagacttgc tgcgcagccg gacagcagtg ggccattgac aatgacgagt
     1501 gcctggagat ccctgagagt ggcactgagg acaacgtctg caggacagcc cagaggcact
     1561 gctgtgtctc ctacttgcag gagaagagct gcatggccgg cgtcctggga gccaaggagg
     1621 gtgagacctg tggggctgag gacaacgaca gctgcggcat ctccctgtac aagcaatgct
     1681 gtgactgctg tggcctgggc ctccgcgtgc gggccgaggg ccagtcgtgt gagtccaatc
     1741 ctaacctggg ctatccctgc aatcatgtca tgctctcctg ctgtgagggt gaagagcctc
     1801 tcatagtacc tgaggttcgc cgacctccag agcccgcagc tgcaccacgg agagtttcag
     1861 aggcagagat ggcgggccga gaggccctgt cactgggcac agaggccgag ctgccgaaca
     1921 gcctgccggg cgatgaccag gatgagtgcc ttctcctccc gggagagctg tgccagcacc
     1981 tttgcatcaa tactgtgggt tcttaccact gtgcctgctt tcctggcttc tcactgcagg
     2041 acgatggccg cacttgccgc ccagagggtc accctccaca gccggaagcc ccacaggagc
     2101 ctgcactgaa gtcagaattt tcccaggtgg cctctaacac catcccgctg ccactgccgc
     2161 agcccaatac ctgcaaagac aatggaccct gcaagcaggt gtgcagcact gttgggggct
     2221 cagccatatg ctcctgtttt cccggctatg ccatcatggc ggatggcgtg tcctgtgaag
     2281 accaagacga gtgcctgatg ggtgctcacg attgtagccg gcgacagttc tgtgtgaaca
     2341 ccctgggatc cttctactgt gtcaaccaca cagtgctctg tgccgatggc tatatcctca
     2401 atgcgcacag gaagtgcgtg gacatcaacg agtgtgtgac ggacctgcac acgtgcagcc
     2461 ggggcgagca ctgtgtgaac acactgggct ccttccactg ctacaaggca ctcacctgtg
     2521 agccaggcta tgccctcaag gatggcgagt gcgaagacgt ggatgagtgt gcgatgggca
     2581 cgcacacctg ccagccgggc ttcttgtgcc agaacaccaa gggctccttc tactgccagg
     2641 ccaggcagcg ctgcatggat ggcttcctgc aggatcctga aggcaactgt gtggacatca
     2701 acgagtgcac gtcactgtcc gagccatgtc ggccaggctt cagctgcatc aacacggtgg
     2761 gctcctacac atgccagagg aacccgctga tctgcgcgcg cggctaccac gccagcgatg
     2821 atgggaccaa gtgtgtggac gtgaatgagt gtgagacagg tgtgcaccgc tgcggtgagg
     2881 gccaagtgtg ccacaacctc cctggctcct accgctgtga ctgcaaagcc ggctttcagc
     2941 gggatgcctt tggccggggc tgcatcgacg tgaatgagtg ctgggcctcg ccaggccgcc
     3001 tgtgccagca cacgtgtgag aacacactcg gctcctaccg ctgttcctgc gcctccgggt
     3061 tcctgctagc agcggacggc aagcgctgtg aagacgtgaa tgagtgtgag gcccagcgct
     3121 gcagccagga gtgtgccaac atctatggct cctaccagtg ctactgccgc cagggctacc
     3181 agctggctga ggatgggcac acctgcacag acatcgacga gtgtgctcaa ggcgccggca
     3241 tcctctgcac cttccgctgt ctcaacgtgc cagggagcta ccagtgtgca tgccctgagc
     3301 agggctacac catgacggcc aacgggaggt cctgcaagga cgtggatgag tgtgcactgg
     3361 gtacccacaa ctgttccgag gctgagacct gccacaacat ccagggtagc ttccgctgcc
     3421 tgcgcttcga gtgtcctccc aactatgtcc aagtctccaa aacgaagtgc gagcgcacca
     3481 cgtgccatga cttcctggag tgccagaact cgccagcgcg catcacgcac taccagctca
     3541 acttccagac gggcctcctg gtgcctgcgc atatcttccg cattggcccc gcgccagcct
     3601 tcacggggga caccatcgcc ctgaacatca tcaagggcaa tgaggagggc tactttggca
     3661 cgcgcaggct caatgcctac acgggtgtgg tctacctgca gcgggccgtg ctggagcccc
     3721 gggactttgc cctggacgtg gagatgaagc tctggaggca gggctccgtc accaccttcc
     3781 tggccaagat gcacatcttc ttcaccacct ttgccctgtg aggtgccagc acgggccacc
     3841 tgcgggtgtg gcgcagccca gggctcacac tgcgtgggag ggactgggtc actattgtgg
     3901 tttttactat aactttgtaa attaacttaa ttttgctgac ttgactcctg tggcttctgg
     3961 acccctcctc tgccccgcag gaggaagttc cacggcaggt ggtgcgttcc cacgcaggca
     4021 ccaagtggaa gcttgcacgg tgggccacgg ccgtggcggg tgccctgtgg gtgaggctgg
     4081 gtgatgacct gaggaccaga gacacgcgac catgttgggg ctcttggact cctctggatg
     4141 acccgtcccc aaagttgaca ttccatttca tgttccactg tgattaattc ttttcttttt
     4201 taaaaaatca ttttaaagtt ttttgtttaa ctataaagta gtacatgtac attatataaa
     4261 aaaaagttca actagtatga aagggttata aagtaacaga ggaaaa
//
LOCUS       NM_001004051            3536 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens G protein-coupled receptor associated sorting protein 2
            (GPRASP2), transcript variant 1, mRNA.
ACCESSION   NM_001004051
VERSION     NM_001004051.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3536)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 3536)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3536)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3536)
  AUTHORS   Liu C, Lin C, Yao J, Wei Q, Xing G and Cao X.
  TITLE     Dynamic expression analysis of armc10, the homologous gene of human
            GPRASP2, in zebrafish embryos
  JOURNAL   Mol Med Rep 16 (5), 5931-5937 (2017)
   PUBMED   28849214
  REMARK    GeneRIF: Dynamic expression analysis of armc10, the homologous gene
            of human GPRASP2, in zebrafish embryos, has been reported.
REFERENCE   5  (bases 1 to 3536)
  AUTHORS   Wang J, Huo K, Ma L, Tang L, Li D, Huang X, Yuan Y, Li C, Wang W,
            Guan W, Chen H, Jin C, Wei J, Zhang W, Yang Y, Liu Q, Zhou Y, Zhang
            C, Wu Z, Xu W, Zhang Y, Liu T, Yu D, Zhang Y, Chen L, Zhu D, Zhong
            X, Kang L, Gan X, Yu X, Ma Q, Yan J, Zhou L, Liu Z, Zhu Y, Zhou T,
            He F and Yang X.
  TITLE     Toward an understanding of the protein interaction network of the
            human liver
  JOURNAL   Mol Syst Biol 7, 536 (2011)
   PUBMED   21988832
  REMARK    Erratum:[Mol Syst Biol. 2017 Dec 18;13(12 ):965. PMID: 29254952]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3536)
  AUTHORS   Piton A, Gauthier J, Hamdan FF, Lafreniere RG, Yang Y, Henrion E,
            Laurent S, Noreau A, Thibodeau P, Karemera L, Spiegelman D, Kuku F,
            Duguay J, Destroismaisons L, Jolivet P, Cote M, Lachapelle K, Diallo
            O, Raymond A, Marineau C, Champagne N, Xiong L, Gaspar C, Riviere
            JB, Tarabeux J, Cossette P, Krebs MO, Rapoport JL, Addington A,
            Delisi LE, Mottron L, Joober R, Fombonne E, Drapeau P and Rouleau
            GA.
  TITLE     Systematic resequencing of X-chromosome synaptic genes in autism
            spectrum disorder and schizophrenia
  JOURNAL   Mol Psychiatry 16 (8), 867-880 (2011)
   PUBMED   20479760
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3536)
  AUTHORS   Horn SC, Lalowski M, Goehler H, Droge A, Wanker EE and Stelzl U.
  TITLE     Huntingtin interacts with the receptor sorting family protein GASP2
  JOURNAL   J Neural Transm (Vienna) 113 (8), 1081-1090 (2006)
   PUBMED   16835690
  REMARK    GeneRIF: that huntingtin protein and GASP2 form a complex in
            cotransfected mammalian cells
REFERENCE   8  (bases 1 to 3536)
  AUTHORS   Winter EE and Ponting CP.
  TITLE     Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism
            sustained by gene conversion events
  JOURNAL   BMC Evol Biol 5, 54 (2005)
   PUBMED   16221301
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 3536)
  AUTHORS   Goehler H, Lalowski M, Stelzl U, Waelter S, Stroedicke M, Worm U,
            Droege A, Lindenberg KS, Knoblich M, Haenig C, Herbst M, Suopanki J,
            Scherzinger E, Abraham C, Bauer B, Hasenbank R, Fritzsche A, Ludewig
            AH, Bussow K, Coleman SH, Gutekunst CA, Landwehrmeyer BG, Lehrach H
            and Wanker EE.
  TITLE     A protein interaction network links GIT1, an enhancer of huntingtin
            aggregation, to Huntington's disease
  JOURNAL   Mol Cell 15 (6), 853-865 (2004)
   PUBMED   15383276
  REMARK    Erratum:[Mol Cell. 2005 Jul 22;19(2):287. Buessow, Konrad [corrected
            to Bussow, Konrad]]
REFERENCE   10  (bases 1 to 3536)
  AUTHORS   Simonin F, Karcher P, Boeuf JJ, Matifas A and Kieffer BL.
  TITLE     Identification of a novel family of G protein-coupled receptor
            associated sorting proteins
  JOURNAL   J Neurochem 89 (3), 766-775 (2004)
   PUBMED   15086532
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.107159.1,
            SRR1660809.197059.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000483720.7/ ENSP00000507692.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK123832.1, AL522674.3 and
            BC051707.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001004051.3.
            Summary: The protein encoded by this gene is a member of a family
            that regulates the activity of G protein-coupled receptors (GPCRs).
            The encoded protein has been shown to be capable of interacting
            with several GPCRs, including the M1 muscarinic acetylcholine
            receptor and the calcitonin receptor. Several transcript variants
            encoding the same protein have been found for this gene. [provided
            by RefSeq, May 2010].
            Transcript Variant: This variant (1) differs in the 5' UTR compared
            to variant 3. All five variants encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3536
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     gene            1..3536
                     /gene="GPRASP2"
                     /gene_synonym="DFNX7; GASP2"
                     /note="G protein-coupled receptor associated sorting
                     protein 2"
                     /db_xref="GeneID:114928"
                     /db_xref="HGNC:HGNC:25169"
                     /db_xref="MIM:300969"
     misc_feature    625..627
                     /gene="GPRASP2"
                     /gene_synonym="DFNX7; GASP2"
                     /note="upstream in-frame stop codon"
     CDS             673..3189
                     /gene="GPRASP2"
                     /gene_synonym="DFNX7; GASP2"
                     /codon_start=1
                     /product="G-protein coupled receptor-associated sorting
                     protein 2"
                     /protein_id="NP_001004051.1"
                     /db_xref="GeneID:114928"
                     /db_xref="HGNC:HGNC:25169"
                     /db_xref="MIM:300969"
                     /translation="MTGAEIEPSAQAKPEKKAGEEVIAGPERENDVPLVVRPKVRTQAT
                     TGARPKTETKSVPAARPKTEAQAMSGARPKTEVQVMGGARPKTEAQGITGARPKTDARA
                     VGGARSKTDAKAIPGARPKDEAQAWAQSEFGTEAVSQAEGVSQTNAVAWPLATAESGSV
                     TKSKGLSMDRELVNVDAETFPGTQGQKGIQPWFGPGEETNMGSWCYSRPRAREEASNES
                     GFWSADETSTASSFWTGEETSVRSWPREESNTRSRHRAKHQTNPRSRPRSKQEAYVDSW
                     SGSEDEASNPFSFWVGENTNNLFRPRVREEANIRSKLRTNREDCFESESEDEFYKQSWV
                     LPGEEANSRFRHRDKEDPNTALKLRAQKDVDSDRVKQEPRFEEEVIIGSWFWAEKEASL
                     EGGASAICESEPGTEEGAIGGSAYWAEEKSSLGAVAREEAKPESEEEAIFGSWFWDRDE
                     ACFDLNPCPVYKVSDRFRDAAEELNASSRPQTWDEVTVEFKPGLFHGVGFRSTSPFGIP
                     EEASEMLEAKPKNLELSPEGEEQESLLQPDQPSPEFTFQYDPSYRSVREIREHLRARES
                     AESESWSCSCIQCELKIGSEEFEEFLLLMDKIRDPFIHEISKIAMGMRSASQFTRDFIR
                     DSGVVSLIETLLNYPSSRVRTSFLENMIHMAPPYPNLNMIETFICQVCEETLAHSVDSL
                     EQLTGIRMLRHLTMTIDYHTLIANYMSGFLSLLTTANARTKFHVLKMLLNLSENPAVAK
                     KLFSAKALSIFVGLFNIEETNDNIQIVIKMFQNISNIIKSGKMSLIDDDFSLEPLISAF
                     REFEELAKQLQAQIDNQNDPEVGQQS"
     misc_feature    673..1038
                     /gene="GPRASP2"
                     /gene_synonym="DFNX7; GASP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96D09.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1324..1548
                     /gene="GPRASP2"
                     /gene_synonym="DFNX7; GASP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96D09.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1516..1518
                     /gene="GPRASP2"
                     /gene_synonym="DFNX7; GASP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BUY8; propagated from
                     UniProtKB/Swiss-Prot (Q96D09.1); phosphorylation site"
     misc_feature    1522..1524
                     /gene="GPRASP2"
                     /gene_synonym="DFNX7; GASP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BUY8; propagated from
                     UniProtKB/Swiss-Prot (Q96D09.1); phosphorylation site"
     misc_feature    1717..1776
                     /gene="GPRASP2"
                     /gene_synonym="DFNX7; GASP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96D09.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2263..2328
                     /gene="GPRASP2"
                     /gene_synonym="DFNX7; GASP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96D09.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3511..3516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPRASP2"
                     /gene_synonym="DFNX7; GASP2"
                     /note="hexamer: AATAAA"
     polyA_site      3536
                     /gene="GPRASP2"
                     /gene_synonym="DFNX7; GASP2"
                     /note="major polyA site"
ORIGIN
        1 gtctttcccg ttcggatcgc ggggaaagca gtggctccaa gtgagccaga ggagagctga
       61 ggagaggagg gggaggccga cgacctgggc cctgggcctc tgaaggtctg gcgtattctg
      121 acaggacaca gtgagcgtct gtagaggaga ggcttgaaat aaaggagcac gaatattgcc
      181 tggatttctg gaggcctact ttaaggctgg ccaattctgc aagaaaggca aggaggagga
      241 gactggctca cagctctgga ggaccccctt ctgtcagctg tggggcttga caccacttga
      301 acaagaaaag gagggggaaa ctgcaccaca tcagtgaaga tccacctcca gtggctgctc
      361 tgctggtggt ggagttgctg ctgacaacca ccctcaacgg gtctgcaccc atccaggaaa
      421 tatctgtctt cctttagctt ggttgtacct gttctcactc tatctgtatt attgaattat
      481 tgactgagac tgtgtttggg aaggaggctg agtgactact ggactggata ttgactctaa
      541 ctcttattcc caagcttata tccttaatca cctaaagatc agagtgtgaa gaaacaaacc
      601 tgtgacagat ctgtggttga ggtttagact acgggaggag tatattacct gactttcttt
      661 gtaacttgta ccatgactgg ggcagagatt gagcctagtg cccaggccaa gcctgaaaag
      721 aaggctgggg aagaggttat cgctgggcct gagagagaga atgatgtccc tctggtggtc
      781 agacccaagg ttaggaccca ggcaactact ggggcaaggc ccaaaactga gaccaagtct
      841 gtgcctgcgg caaggcccaa aactgaggcc caagcaatgt ctggggcaag gcccaaaact
      901 gaggtccaag taatgggtgg tgcaagaccc aaaacggagg ctcaaggaat cacaggggcc
      961 aggcccaaaa ccgatgccag ggcagtaggt ggcgctcgtt ctaaaactga tgccaaggca
     1021 atccctggag caaggcccaa ggatgaggcc caggcatggg cccagagtga atttgggact
     1081 gaagcagtgt cacaggcaga aggagtgtcc cagactaatg ccgttgcttg gccactggcc
     1141 actgctgagt ctggatcagt tactaaatct aagggcctgt ctatggatag agaactagtc
     1201 aatgtggatg ctgaaacctt tcctggcacc cagggtcaga aaggaatcca gccctggttt
     1261 ggaccagggg aggagactaa tatggggtct tggtgctatt ccaggcccag ggccagagag
     1321 gaggcctcta atgagtctgg gttctggtca gcagatgaga cctctacagc gtcttctttc
     1381 tggactggag aagagacaag tgtcagatca tggcccaggg aagagtccaa taccaggtcc
     1441 aggcacaggg ctaaacatca gactaatccc aggtccaggc ccagatccaa gcaagaagcc
     1501 tatgttgatt cctggtctgg atctgaggat gaggccagca acccattctc cttctgggtt
     1561 ggagaaaata ccaataactt gttcaggccc agagtcaggg aggaggcaaa tatcaggtcc
     1621 aagctcagga caaatagaga agattgtttt gaatctgagt ctgaagatga gttctataag
     1681 cagtcctggg ttttgcctgg agaagaggcc aatagtagat tcaggcacag agacaaagaa
     1741 gatcctaata ctgccttgaa actcagggcc cagaaagatg ttgacagtga tagggtcaaa
     1801 caagaaccca ggtttgagga ggaagtcatt attgggtcct ggttctgggc agaaaaagag
     1861 gccagtttgg agggtggagc ttcagcaatc tgtgaatctg agccaggaac tgaggagggg
     1921 gccattggcg gatccgcgta ctgggctgag gaaaagtcca gtttgggggc tgtggccaga
     1981 gaagaggcca agccggagtc tgaagaagag gccatatttg ggtcctggtt ctgggacaga
     2041 gatgaggcct gctttgacct aaatccctgt cctgtgtaca aggtcagtga taggttcaga
     2101 gatgcagctg aggagcttaa tgcatcctcc aggccccaaa cctgggacga ggtcactgtt
     2161 gaattcaaac ctggtctttt tcatggggtt ggcttccgat ccacaagccc ctttggaatt
     2221 cccgaagagg cttctgaaat gcttgaggca aagcccaaga acctggaact tagcccagaa
     2281 ggagaagagc aggaatcttt gcttcagcct gatcagccta gtcctgagtt cacatttcag
     2341 tatgatcctt cctaccggtc agtccgggaa attcgagagc atcttagggc cagggagagt
     2401 gcagagtctg agagttggtc ctgcagctgc atacaatgtg agctgaaaat tggttctgaa
     2461 gagtttgaag aattcctttt attaatggac aaaattcggg atccttttat tcatgaaata
     2521 tctaaaattg caatgggtat gagaagtgct tctcaattta cccgagattt cattcgagat
     2581 tcaggtgttg tctcacttat tgaaaccttg cttaattatc catcctctag agttaggaca
     2641 agttttttgg aaaatatgat tcacatggct ccaccttatc caaatctaaa catgattgag
     2701 acattcatat gtcaagtgtg tgaggaaacc cttgcacata gtgtggattc ccttgagcag
     2761 ctgactggaa taaggatgct tagacacctc actatgacta ttgactatca cacactgatt
     2821 gccaactata tgtccgggtt tctctcctta ttaaccacag ccaatgcgag aacgaagttt
     2881 cacgttctga aaatgctatt gaatttgtct gaaaatcctg ctgtggcaaa aaaactattc
     2941 agtgccaaag ctctttcaat atttgtgggt ctctttaaca tagaagagac aaatgataat
     3001 attcaaattg ttattaaaat gtttcagaat atcagtaaca ttataaaaag tggaaagatg
     3061 tccttaattg atgatgattt cagtcttgag ccgcttattt ctgcatttcg tgaatttgag
     3121 gagttagcta agcaactaca agcccaaata gacaaccaaa atgatcctga ggtgggacaa
     3181 caaagttaat atgattaacc acctgccgct gatcagcctt atgttcccaa agagccctga
     3241 gtagtgcttt ggtgttcaca gtctgttttt ttgttgtaac ttatattttt taatgctgat
     3301 gttaactttg tcaaactctt gttttgagct ggatcatttt gtggatgcca aatgaatatc
     3361 aaaactgaaa acacatttgt tgatatttgt cttgctgtcc agattgcggt atttttcagt
     3421 attaagtttt caatgaactg tgtcacctaa gtaagctacc ctgctattcg ttgtttaaat
     3481 atatggttct ctatttgagt ctgtgttttc aataaagttc tatgttaaaa ttggca
//
LOCUS       NM_001004052             972 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily B member 2
            (OR52B2), mRNA.
ACCESSION   NM_001004052
VERSION     NM_001004052.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 972)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 972)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000530810.2/ ENSP00000432011.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065763.1.
            On Oct 7, 2004 this sequence version replaced XM_171528.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..972
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..972
                     /gene="OR52B2"
                     /gene_synonym="OR11-70"
                     /note="olfactory receptor family 52 subfamily B member 2"
                     /db_xref="GeneID:255725"
                     /db_xref="HGNC:HGNC:15207"
     CDS             1..972
                     /gene="OR52B2"
                     /gene_synonym="OR11-70"
                     /note="olfactory receptor OR11-70"
                     /codon_start=1
                     /product="olfactory receptor 52B2"
                     /protein_id="NP_001004052.1"
                     /db_xref="CCDS:CCDS53598.1"
                     /db_xref="GeneID:255725"
                     /db_xref="HGNC:HGNC:15207"
                     /translation="MSHTNVTIFHPAVFVLPGIPGLEAYHIWLSIPLCLIYITAVLGNS
                     ILIVVIVMERNLHVPMYFFLSMLAVMDILLSTTTVPKALAIFWLQAHNIAFDACVTQGF
                     FVHMMFVGESAILLAMAFDRFVAICAPLRYTTVLTWPVVGRIALAVITRSFCIIFPVIF
                     LLKRLPFCLTNIVPHSYCEHIGVARLACADITVNIWYGFSVPIVMVILDVILIAVSYSL
                     ILRAVFRLPSQDARHKALSTCGSHLCVILMFYVPSFFTLLTHHFGRNIPQHVHILLANL
                     YVAVPPMLNPIVYGVKTKQIREGVAHRFFDIKTWCCTSPLGS"
     misc_feature    13..15
                     /gene="OR52B2"
                     /gene_synonym="OR11-70"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96RD2.3); glycosylation site"
     misc_feature    82..144
                     /gene="OR52B2"
                     /gene_synonym="OR11-70"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD2.3);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR52B2"
                     /gene_synonym="OR11-70"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD2.3);
                     transmembrane region"
     misc_feature    304..366
                     /gene="OR52B2"
                     /gene_synonym="OR11-70"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD2.3);
                     transmembrane region"
     misc_feature    424..486
                     /gene="OR52B2"
                     /gene_synonym="OR11-70"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD2.3);
                     transmembrane region"
     misc_feature    595..657
                     /gene="OR52B2"
                     /gene_synonym="OR11-70"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD2.3);
                     transmembrane region"
     misc_feature    718..780
                     /gene="OR52B2"
                     /gene_synonym="OR11-70"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD2.3);
                     transmembrane region"
     misc_feature    826..888
                     /gene="OR52B2"
                     /gene_synonym="OR11-70"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD2.3);
                     transmembrane region"
ORIGIN
        1 atgagtcaca ccaatgttac catcttccat cctgcagttt ttgtccttcc tggcatccct
       61 gggttggagg cttatcacat ttggctgtca atacctcttt gcctcattta catcactgca
      121 gtcctgggaa acagcatcct gatagtggtt attgtcatgg aacgtaacct tcatgtgccc
      181 atgtatttct tcctctcaat gctggccgtc atggacatcc tgctgtctac caccactgtg
      241 cccaaggccc tagccatctt ttggcttcaa gcacataaca ttgcttttga tgcctgtgtc
      301 acccaaggct tctttgtcca tatgatgttt gtgggggagt cagctatcct gttagccatg
      361 gcctttgatc gctttgtggc catttgtgcc ccactgagat atacaacagt gctaacatgg
      421 cctgttgtgg ggaggattgc tctggccgtc atcacccgaa gcttctgcat catcttccca
      481 gtcatattct tgctgaagcg gctgcccttc tgcctaacca acattgttcc tcactcctac
      541 tgtgagcata ttggagtggc tcgtttagcc tgtgctgaca tcactgttaa catttggtat
      601 ggcttctcag tgcccattgt catggtcatc ttggatgtta tcctcatcgc tgtgtcttac
      661 tcactgatcc tccgagcagt gtttcgtttg ccctcccagg atgctcggca caaggccctc
      721 agcacttgtg gctcccacct ctgtgtcatc cttatgtttt atgttccatc cttctttacc
      781 ttattgaccc atcattttgg gcgtaatatt cctcaacatg tccatatctt gctggccaat
      841 ctttatgtgg cagtgccacc aatgctgaac cccattgtct atggtgtgaa gactaagcag
      901 atacgtgagg gtgtagccca ccggttcttt gacatcaaga cttggtgctg tacctcccct
      961 ctgggctcat ga
//
LOCUS       NM_001004058             924 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily K member 5
            (OR8K5), mRNA.
ACCESSION   NM_001004058
VERSION     NM_001004058.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 924)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313447.1/ ENSP00000323853.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003034.2.
            On Apr 14, 2007 this sequence version replaced NM_001004058.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on transcript alignments.
FEATURES             Location/Qualifiers
     source          1..924
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..924
                     /gene="OR8K5"
                     /gene_synonym="OR11-174"
                     /note="olfactory receptor family 8 subfamily K member 5"
                     /db_xref="GeneID:219453"
                     /db_xref="HGNC:HGNC:15315"
     CDS             1..924
                     /gene="OR8K5"
                     /gene_synonym="OR11-174"
                     /note="olfactory receptor OR11-174"
                     /codon_start=1
                     /product="olfactory receptor 8K5"
                     /protein_id="NP_001004058.2"
                     /db_xref="CCDS:CCDS31521.1"
                     /db_xref="GeneID:219453"
                     /db_xref="HGNC:HGNC:15315"
                     /translation="MGQHNLTVLTEFILMELTRRPELQIPLFGVFLVIYLITVVGNLTM
                     IILTKLDSHLHTPMYFSIRHLAFVDLGNSTVICPKVLANFVVDRNTISYYACAAQLAFF
                     LMFIISEFFILSAMAYDRYVAICNPLLYYVIMSQRLCHVLVGIQYLYSTFQALMFTIKI
                     FTLTFCGSNVISHFYCDDVPLLPMLCSNAQEIELLSILFSVFNLISSFLIVLVSYMLIL
                     LAICQMHSAEGRKKAFSTCGSHLTVVVVFYGSLLFMYMQPNSTHFFDTDKMASVFYTLV
                     IPMLNPLIYSLRNEEVKNAFYKLFEN"
     misc_feature    13..15
                     /gene="OR8K5"
                     /gene_synonym="OR11-174"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH50.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR8K5"
                     /gene_synonym="OR11-174"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH50.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR8K5"
                     /gene_synonym="OR11-174"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH50.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR8K5"
                     /gene_synonym="OR11-174"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH50.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR8K5"
                     /gene_synonym="OR11-174"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH50.1);
                     transmembrane region"
     misc_feature    592..651
                     /gene="OR8K5"
                     /gene_synonym="OR11-174"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH50.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR8K5"
                     /gene_synonym="OR11-174"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH50.1);
                     transmembrane region"
     misc_feature    787..789
                     /gene="OR8K5"
                     /gene_synonym="OR11-174"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH50.1); glycosylation site"
     misc_feature    814..876
                     /gene="OR8K5"
                     /gene_synonym="OR11-174"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH50.1);
                     transmembrane region"
ORIGIN
        1 atgggccaac acaatctaac agtgctaact gaattcattc tgatggaact cacaaggcgg
       61 cctgagctgc agattcccct ttttggagtc ttcctcgtca tctacctaat cacagtggtg
      121 ggcaacctaa ctatgatcat tttgaccaaa ctggactccc acttacatac acctatgtac
      181 ttttctatca gacatttggc ttttgttgat cttggtaatt ctactgtcat ttgtcccaag
      241 gtgctggcaa attttgttgt ggatcgaaat actatttcct attatgcatg tgctgcacag
      301 ctggcattct tccttatgtt cattatcagt gaatttttca tcctgtcagc catggcctat
      361 gaccgctatg tggccatttg taaccctctg ctctattatg ttattatgtc tcagcgactg
      421 tgtcatgtac tggtgggcat tcaatatctc tacagcacat ttcaggctct gatgttcact
      481 attaagattt ttacattgac cttctgtggc tctaatgtca tcagtcattt ttactgtgat
      541 gatgttcctt tgctacctat gctttgctca aatgcacagg aaatagaatt gttgagcata
      601 ctattttctg tatttaattt gatctcctcc tttctgatag tcttagtgtc ctacatgttg
      661 attttgttag ctatatgtca aatgcattct gcagagggca ggaaaaaggc tttctccaca
      721 tgtggttccc atttgacagt ggtggttgtg ttctatgggt ctctactctt catgtacatg
      781 cagcccaatt ccactcactt ctttgatact gataaaatgg cttctgtgtt ttacacttta
      841 gtaatcccca tgcttaaccc tttgatttac agcttaagaa acgaagaggt gaaaaatgcc
      901 ttctataagc tctttgagaa ttga
//
LOCUS       NM_001004059            2211 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily S member 2
            (OR4S2), mRNA.
ACCESSION   NM_001004059
VERSION     NM_001004059.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2211)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 2211)
  AUTHORS   Gilad Y and Lancet D.
  TITLE     Population differences in the human functional olfactory repertoire
  JOURNAL   Mol Biol Evol 20 (3), 307-314 (2003)
   PUBMED   12644552
REFERENCE   3  (bases 1 to 2211)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641692.1/ ENSP00000493389.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP006437.2.
            On Aug 5, 2020 this sequence version replaced NM_001004059.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2211
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q11"
     gene            1..2211
                     /gene="OR4S2"
                     /gene_synonym="OR11-137; OR4S2P; OST725"
                     /note="olfactory receptor family 4 subfamily S member 2"
                     /db_xref="GeneID:219431"
                     /db_xref="HGNC:HGNC:15183"
     misc_feature    231..233
                     /gene="OR4S2"
                     /gene_synonym="OR11-137; OR4S2P; OST725"
                     /note="upstream in-frame stop codon"
     CDS             261..1196
                     /gene="OR4S2"
                     /gene_synonym="OR11-137; OR4S2P; OST725"
                     /note="olfactory receptor OR11-137; olfactory receptor,
                     family 4, subfamily S, member 2 pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 4S2"
                     /protein_id="NP_001004059.2"
                     /db_xref="CCDS:CCDS31505.1"
                     /db_xref="GeneID:219431"
                     /db_xref="HGNC:HGNC:15183"
                     /translation="MEKINNVTEFIFWGLSQSPEIEKVCFVVFSFFYIIILLGNLLIML
                     TVCLSNLFKSPMYFFLSFLSFVDICYSSVTAPKMIVDLLAKDKTISYVGCMLQLFGVHF
                     FGCTEIFILTVMAYDRYVAICKPLHYMTIMNRETCNKMLLGTWVGGFLHSIIQVALVVQ
                     LPFCGPNEIDHYFCDVHPVLKLACTETYIVGVVVTANSGTIALGSFVILLISYSIILVS
                     LRKQSAEGRRKALSTCGSHIAMVVIFFGPCTFMYMRPDTTFSEDKMVAVFYTIITPMLN
                     PLIYTLRNAEVKNAMKKLWGRNVFLEAKGK"
     misc_feature    276..278
                     /gene="OR4S2"
                     /gene_synonym="OR11-137; OR4S2P; OST725"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH73.2); glycosylation site"
     misc_feature    330..401
                     /gene="OR4S2"
                     /gene_synonym="OR11-137; OR4S2P; OST725"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH73.2);
                     transmembrane region"
     misc_feature    426..491
                     /gene="OR4S2"
                     /gene_synonym="OR11-137; OR4S2P; OST725"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH73.2);
                     transmembrane region"
     misc_feature    555..614
                     /gene="OR4S2"
                     /gene_synonym="OR11-137; OR4S2P; OST725"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH73.2);
                     transmembrane region"
     misc_feature    672..728
                     /gene="OR4S2"
                     /gene_synonym="OR11-137; OR4S2P; OST725"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH73.2);
                     transmembrane region"
     misc_feature    840..911
                     /gene="OR4S2"
                     /gene_synonym="OR11-137; OR4S2P; OST725"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH73.2);
                     transmembrane region"
     misc_feature    960..1028
                     /gene="OR4S2"
                     /gene_synonym="OR11-137; OR4S2P; OST725"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH73.2);
                     transmembrane region"
     misc_feature    1062..1121
                     /gene="OR4S2"
                     /gene_synonym="OR11-137; OR4S2P; OST725"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH73.2);
                     transmembrane region"
ORIGIN
        1 caaagaccct gtgaaatggc aggtatcatt aggtgagaaa accaggaaca acaaagactc
       61 atttctacca gcctttcagt ttggggggtc aggtattttc cggtactaat tattcacaaa
      121 ggaattccct aggcatcact gttactttac cttgggaagc tgcacccaaa ttaactcaag
      181 aagagataga aacataaagt gaactcaagc tctggaaaat actggtaatt taattgtctc
      241 ctaagaactt gacccattcc atggaaaaaa taaacaacgt aactgaattc attttctggg
      301 gtctttctca gagcccagag attgagaaag tttgttttgt ggtgttttct ttcttctaca
      361 taatcattct tctgggaaat ctcctcatca tgctgacagt ttgcctgagc aacctgttta
      421 agtcacccat gtatttcttt ctcagcttct tgtcttttgt ggacatttgt tactcttcag
      481 tcacagctcc caagatgatt gttgacctgt tagcaaagga caaaaccatc tcctatgtgg
      541 ggtgcatgtt gcaactgttt ggagtacatt tctttggttg cactgagatc ttcatcctta
      601 ctgtaatggc ctatgatcgt tatgtggcta tctgtaaacc cctacattat atgaccatca
      661 tgaaccggga gacatgcaat aaaatgttat tagggacgtg ggtaggtggg ttcttacact
      721 ccattatcca agtggctctg gtagtccaac tacccttttg tggacccaat gagatagatc
      781 actacttttg tgatgttcac cctgtgttga aacttgcctg cacagaaaca tacattgttg
      841 gtgttgttgt gacagccaac agtggtacca ttgctctggg gagttttgtt atcttgctaa
      901 tctcctacag catcatccta gtttccctga gaaagcagtc agcagaaggc aggcgcaaag
      961 ccctctccac ctgtggctcc cacattgcca tggtcgttat ctttttcggc ccctgtactt
     1021 ttatgtacat gcgccctgat acgacctttt cagaggataa gatggtggct gtattttaca
     1081 ccattatcac tcccatgtta aatcctctga tttatacact gagaaatgca gaagtaaaga
     1141 atgcaatgaa gaaactgtgg ggcagaaatg ttttcttgga ggctaaaggg aaatagttgg
     1201 acttaataat ttaagctaga tgaccttaaa atttctcagc cttggttaac tcatctgtgc
     1261 aatcaagaca ataacaacct catgggattt ggagtggaaa aatgagacaa taacacattc
     1321 aaaagagtaa ggtattattt ttcattatta tagcattttt atactatttc ataattagat
     1381 aacttcctga aatatctatg acacagaaat attattaaac ttagaatcac aaaagtgcag
     1441 aagagcaatt cctcttggct ttcctttgag gacagatttc tattacccta ccttgctatt
     1501 cactggtttt atcatcatcc ctgaaagcag aaactcacca tatgtataaa gtggaggaaa
     1561 taaattttaa aaaatttaga atttccaaaa gtgtgggaag tgttttcata tttttgggct
     1621 taaattgtga ggtttcgggc agtacagtat cactcatata tttccttcta aataaacaat
     1681 cctctaccct gctgcctagg ctatgtatag agtagtgggg aattgataag gttgtaatgt
     1741 gtgctgactg ctgacatctg gggagcagca agaggaaagg gcctcatagt tcacactgta
     1801 gatttcactt atccttgtgc atgcgtgttt catcactgtc ctccacatta atactgggaa
     1861 ttatttagct cagtctttca aaagaataaa cctccaatct tttgtgaagt aatatagagg
     1921 aattcttacc tgtctgtgta gaaaatggcc tgtggaaata aaataatttt catgtaatac
     1981 aatgtatgtt tcactcctac attctgtaga atcgtatgct acaagcattt agcatctcag
     2041 gagttttgca agtgaactaa cttgctagtt ttctctgtcc ttgctcagat ggctataact
     2101 tcccccacaa tgctaagtta actacttagt aacactgttc tctatttctc aaaaaatgtg
     2161 tgaaaatctt tcaccagctg gtatttcctg tttgcttttt tgtcattgtg g
//
LOCUS       NM_001004063            1339 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily K member 1
            (OR4K1), mRNA.
ACCESSION   NM_001004063
VERSION     NM_001004063.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1339)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 1339)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641172.1/ ENSP00000493193.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL391156.3 and AL359218.4.
            On Aug 3, 2020 this sequence version replaced NM_001004063.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on transcript alignments.
FEATURES             Location/Qualifiers
     source          1..1339
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1339
                     /gene="OR4K1"
                     /gene_synonym="OR14-19"
                     /note="olfactory receptor family 4 subfamily K member 1"
                     /db_xref="GeneID:79544"
                     /db_xref="HGNC:HGNC:14726"
     misc_feature    231..233
                     /gene="OR4K1"
                     /gene_synonym="OR14-19"
                     /note="upstream in-frame stop codon"
     CDS             249..1184
                     /gene="OR4K1"
                     /gene_synonym="OR14-19"
                     /note="olfactory receptor OR14-19"
                     /codon_start=1
                     /product="olfactory receptor 4K1"
                     /protein_id="NP_001004063.2"
                     /db_xref="CCDS:CCDS32025.1"
                     /db_xref="GeneID:79544"
                     /db_xref="HGNC:HGNC:14726"
                     /translation="MAHTNESMVSEFVLLGLSNSWGLQLFFFAIFSIVYVTSVLGNVLI
                     IVIISFDSHLNSPMYFLLSNLSFIDICQSNFATPKMLVDFFIERKTISFEGCMAQIFVL
                     HSFVGSEMMLLVAMAYDRFIAICKPLHYSTIMNRRLCVIFVSISWAVGVLHSVSHLAFT
                     VDLPFCGPNEVDSFFCDLPLVIELACMDTYEMEIMTLTNSGLISLSCFLALIISYTIIL
                     IGVRCRSSSGSSKALSTLTAHITVVILFFGPCIYFYIWPFSRLPVDKFLSVFYTVCTPL
                     LNPIIYSLRNEDVKAAMWKLRNRHVNSWKN"
     misc_feature    261..263
                     /gene="OR4K1"
                     /gene_synonym="OR14-19"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGD4.1); glycosylation site"
     misc_feature    324..395
                     /gene="OR4K1"
                     /gene_synonym="OR14-19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD4.1);
                     transmembrane region"
     misc_feature    420..485
                     /gene="OR4K1"
                     /gene_synonym="OR14-19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD4.1);
                     transmembrane region"
     misc_feature    549..608
                     /gene="OR4K1"
                     /gene_synonym="OR14-19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD4.1);
                     transmembrane region"
     misc_feature    666..722
                     /gene="OR4K1"
                     /gene_synonym="OR14-19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD4.1);
                     transmembrane region"
     misc_feature    834..905
                     /gene="OR4K1"
                     /gene_synonym="OR14-19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD4.1);
                     transmembrane region"
     misc_feature    954..1022
                     /gene="OR4K1"
                     /gene_synonym="OR14-19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD4.1);
                     transmembrane region"
     misc_feature    1056..1115
                     /gene="OR4K1"
                     /gene_synonym="OR14-19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD4.1);
                     transmembrane region"
ORIGIN
        1 aggtgatcag agccctcact acatcaggac aggacctgag gacctgagag gcttccttcc
       61 atacggcata gtgtagggaa ccaagttaaa atgcatcaag ttaagattat attacaaata
      121 ttttcagtat gaagactcat agcagaaagt gggaaatgga aacaaaccag aggacaccaa
      181 actgggaaaa taaggaagaa gtgaaagact tggacaactt tttcaaagtg taactgaata
      241 ttggatacat ggctcacaca aatgaatcga tggtgtctga gtttgtactt ttgggactct
      301 ctaattcctg gggacttcaa cttttctttt ttgccatctt ctctatagtc tatgtgacat
      361 cagtgctagg caatgtctta attattgtca ttatttcttt tgactcccat ttgaactctc
      421 ctatgtactt cttgctcagt aatctttctt tcattgatat ctgtcagtct aactttgcca
      481 cccccaagat gcttgtagac ttttttattg agcgcaagac tatctccttt gagggttgca
      541 tggcccagat attcgttctt cacagttttg ttgggagtga gatgatgttg cttgtagcta
      601 tggcatatga cagatttata gccatatgta agcctctgca ctacagtaca attatgaacc
      661 ggaggctctg tgtaattttt gtgtctattt cctgggcggt gggcgttctt cattctgtga
      721 gccacttggc ttttacagtg gacctgccat tctgtggtcc caatgaggtg gatagcttct
      781 tttgtgacct tcccttggtg atagagctgg cttgcatgga tacatatgaa atggaaatta
      841 tgaccctaac gaacagtggc ctgatatcat tgagctgttt cctggcttta attatttcct
      901 acaccatcat tttgatcggt gtccgatgca ggtcctccag tgggtcatct aaggctcttt
      961 ctacattaac tgcccacatc acagtggtca ttcttttctt cgggccttgc atttatttct
     1021 atatatggcc ttttagcaga cttcctgtgg acaaatttct ttctgtgttc tacactgttt
     1081 gtactccctt gttgaacccc atcatctact ctctgaggaa tgaagatgtt aaagcagcca
     1141 tgtggaagct gagaaaccgt catgtgaact cctggaaaaa ctagggatca ttacgaagga
     1201 gcataatcct gaattagaat gaagaccctc cagtgtatca tagtgtcatg ccaaccatct
     1261 ttgccagaca tatgggttat tgagttacag aattggcttt ttgttttaag tgcaagggaa
     1321 ttgcatcaag tcagtctct
//
LOCUS       NM_001004064            3806 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily J member 3
            (OR8J3), mRNA.
ACCESSION   NM_001004064
VERSION     NM_001004064.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3806)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 3806)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642058.1/ ENSP00000493166.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003034.2 and AC068339.6.
            On Aug 5, 2020 this sequence version replaced NM_001004064.1.
FEATURES             Location/Qualifiers
     source          1..3806
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..3806
                     /gene="OR8J3"
                     /gene_synonym="OR11-173"
                     /note="olfactory receptor family 8 subfamily J member 3"
                     /db_xref="GeneID:81168"
                     /db_xref="HGNC:HGNC:15312"
     misc_feature    671..673
                     /gene="OR8J3"
                     /gene_synonym="OR11-173"
                     /note="upstream in-frame stop codon"
     CDS             809..1756
                     /gene="OR8J3"
                     /gene_synonym="OR11-173"
                     /note="olfactory receptor OR11-173"
                     /codon_start=1
                     /product="olfactory receptor 8J3"
                     /protein_id="NP_001004064.1"
                     /db_xref="CCDS:CCDS31520.1"
                     /db_xref="GeneID:81168"
                     /db_xref="HGNC:HGNC:15312"
                     /translation="MAPENFTRVTEFILTGVSSCPELQIPLFLVFLVLYVLTMAGNLGI
                     ITLTSVDSRLQNPMYFFLRHLAIINLGNSTVIAPKMLMNFLVKKKTTSFYECATQLGGF
                     LFFIVSEVMMLAVMAYDRYVAICNPLLYMVVVSRRLCLLLVSLTYLYGFSTAIVVSPCI
                     FSVSYCSSNIINHFYCDIAPLLALSCSDTYIPETIVFISAATNLVFSMITVLVSYFNIV
                     LSILRIRSPEGRKKAFSTCASHMIAVTVFYGTMLFMYLQPQTNHSLDTDKMASVFYTLV
                     IPMLNPLIYSLRNNDVNVALKKFMENPCYSFKSM"
     misc_feature    821..823
                     /gene="OR8J3"
                     /gene_synonym="OR11-173"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGG0.1); glycosylation site"
     misc_feature    884..946
                     /gene="OR8J3"
                     /gene_synonym="OR11-173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG0.1);
                     transmembrane region"
     misc_feature    971..1033
                     /gene="OR8J3"
                     /gene_synonym="OR11-173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG0.1);
                     transmembrane region"
     misc_feature    1106..1168
                     /gene="OR8J3"
                     /gene_synonym="OR11-173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG0.1);
                     transmembrane region"
     misc_feature    1226..1288
                     /gene="OR8J3"
                     /gene_synonym="OR11-173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG0.1);
                     transmembrane region"
     misc_feature    1400..1459
                     /gene="OR8J3"
                     /gene_synonym="OR11-173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG0.1);
                     transmembrane region"
     misc_feature    1520..1582
                     /gene="OR8J3"
                     /gene_synonym="OR11-173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG0.1);
                     transmembrane region"
     misc_feature    1601..1603
                     /gene="OR8J3"
                     /gene_synonym="OR11-173"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGG0.1); glycosylation site"
     misc_feature    1622..1684
                     /gene="OR8J3"
                     /gene_synonym="OR11-173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG0.1);
                     transmembrane region"
ORIGIN
        1 gtagaaagca aagcagattc tctgttgaaa aaggggtttc actgtgttag ccagggtggt
       61 ctccatctcc tgacctcatg atctgcccgc ctcggcctcc caaagtgctg ggattaccgg
      121 tttgagccac cacgcctgca caaaatttta ctgatattat ttatggaaac ctaagaagag
      181 aaacagctac ctgaaaaata gatctgaaga gatttatcca tgtatttttg tttgagttaa
      241 taaaatggaa agagaaaaag tagtaaacaa acatgcatgt tgtaatttgc aagctcaata
      301 tagatctaat acatgttata aaaggatata attcttaaaa tgaagagtat agtacctagt
      361 cttgaggcaa aggaagaatt atcagattag gaaattgcaa gtagccattg gattatttgg
      421 cgatatacaa tttcttaagc ctttctcatg atcagtgcaa aaatcatcag atacatccca
      481 gcttcaaatg tttgtaagct aagaacatat tcttaattca attacactgc aaggcagtaa
      541 accctcaaag tgttgcagga tgctgaaaca actatttact ttgccatact aaatttacca
      601 tacttgcttt actctctccc aagtgattgc aaagctgatt tattagactg agaatactga
      661 gtttaataac tgaattagat taatacatga caagaagatc acacccagga attgtccttg
      721 ccatctagtg gaaatcctag aaaatgattc cttaacgtct ataaccactt attttcttcc
      781 tcaaacagat gaatttccaa actctgacat ggctcctgaa aatttcacca gggtcactga
      841 gtttattctc acaggtgtct ctagctgtcc agagctccag attcccctct tcctggtctt
      901 cctagtgctc tatgtgctga ccatggcagg gaacctgggc atcatcaccc tcaccagtgt
      961 tgactctcga cttcaaaacc ccatgtactt tttcctgaga catctagcta tcatcaatct
     1021 tggcaactct actgtcattg cccctaaaat gctgatgaac tttttagtaa agaagaaaac
     1081 tacctcattc tatgaatgtg ccacccaact gggagggttc ttgttcttta ttgtatcgga
     1141 ggtaatgatg ctggctgtga tggcctatga ccgctatgtg gccatttgta accctctgct
     1201 ctacatggtg gtggtgtctc ggcggctctg cctcctgctg gtgtccctca catacctcta
     1261 tggcttttct acagctattg tggtttcacc ttgtatattc tctgtgtctt attgctcttc
     1321 taatataatc aatcattttt actgtgatat tgcacctctg ttagcattat cttgctctga
     1381 tacttacata ccagaaacaa tagtctttat atctgcagca acaaatttgg ttttttccat
     1441 gattacagtt ctagtatctt atttcaatat tgttttgtcc attctaagga tacgttcacc
     1501 agaaggaagg aaaaaagcct tttccacctg cgcttcgcat atgatagcag tcacggtttt
     1561 ctatgggaca atgctattta tgtatttgca gccccaaacc aaccactcac tggatactga
     1621 taagatggct tctgtgtttt acacattggt gattcctatg ctgaatccct tgatctacag
     1681 cctgaggaat aatgatgtaa atgttgcctt aaagaaattc atggaaaatc catgttactc
     1741 ctttaaatca atgtaatttt agagctctat aaataaatga agagatagtt catgtaacct
     1801 gccattatgt aagagaaata aaagtaagtt tacaagcaat cctaagaatt accaagaggt
     1861 aagatttaaa gatcattgaa ttaaaaaaaa tacatggaaa cattttgagt tatgagagta
     1921 atacaaaaca aaaatattat ttattaactt tgcccagaaa taatcaggta accagtttga
     1981 ataaaatatt ttcaggagta aggagcatat cagtttttaa aaggttaagt tttaacagag
     2041 caacaaaata ggaacaagag aattaaagtg aatatttttc attctgtgga ctcctttttt
     2101 tctttctggg tatgattggt agagtggatg cctgcatctt gaaaaactgt aactacagat
     2161 gactaaaatc atttttacaa caaagttaac aaatttgaac tgacaataat atttaaaata
     2221 aagctcttta actcttaata ttgtttgaat atacaataaa gacatactat caattaatac
     2281 atattttaaa tcctcattat ataattgaaa atattttatt ccaactaata tattttctgc
     2341 aatttttaaa taaaatgctc agactactat cactgaatat gcttttatac tgggtttgct
     2401 ttgtaaacat cagattttat aaaaatttcc ttttctcctt cctctaaata tcattcatcc
     2461 ttcataggta aaacaaatgt tctatttttg tatattaata aactttaaaa aaacttgttc
     2521 atgggagttt cttacatcat cagaaatatt ttttgaattt ttgttctttt tttctgatag
     2581 tttttgatca gtaagtgtac acttacacct attgtacaac ttataatata taggagtaat
     2641 cagacttata ggatatatcc cagacttatc aaataaaaat cataaggcaa aagtcaaaaa
     2701 actcatatta aaagtgccaa tggggattct ggcattgaaa cttaggaata tatcctacaa
     2761 ataaagaact agactgaaag atacatatgg aagattatgt tgacattctg tgtgtgtgtt
     2821 cagtttactt gtaagtaggt tcttgtgtta aagagttcct tcaggactaa aggaccaaag
     2881 aaactaaatc ttcagtcatg aataattatg aataattatg atatggtatg aataattatg
     2941 atatgaataa ttatgaatga tatgaataat tataatatta aaaaggaaac aaaacacaac
     3001 tctacagtac aaaattagac tcaagtaact ggaaaagtag tgattggata tcttttaatt
     3061 tgccttggtg ttgagatatt cagtctactt ttcacgccaa tctttcttcc acttagtgaa
     3121 agaatgaaaa ggcaggaaaa agctatcttg tttgcataag atgagatttt tgaggtaaca
     3181 taatcacttt tccacagtcc caaattcatt cccattttta ctgtgcatta catttccatc
     3241 ataatttttt tttttataaa aggtcatctt tggattccac tgaatacgtt ttctagttag
     3301 gccttctatt gaacaatgga ataatataac cacatgttta ataacaaaat ttgttccacc
     3361 aaactcagtt tttataaact attaacaagg tcctcaaatg acaattttta gatttaggaa
     3421 gaaatgctag aagaccataa aattgtttgt agccaaatat gacaaatgaa atataatgaa
     3481 ttttaccaga tctatatata ttgatgtcgg gtttttaatt aaattttcaa ccctaaatat
     3541 tataatgcaa tgaaagttta tcagttgaaa aatcattggt ttacctagtg cgataataaa
     3601 tgaatggagt actatttatg tgtatgcatg taataatctg ggaattccta atgaagaaga
     3661 attatccttc ttcgaaatta atttgccaga aatgtttggg catctatact agcctggtat
     3721 tgtgaagagt attccagaaa atatgacttt attttgatgc taaagtaggg aaaaatatta
     3781 aaacactgag cgcttaatga taaagt
//
LOCUS       NM_001004067            4320 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens NODAL modulator 3 (NOMO3), mRNA.
ACCESSION   NM_001004067
VERSION     NM_001004067.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4320)
  AUTHORS   Sundaram A, Yamsek M, Zhong F, Hooda Y, Hegde RS and Keenan RJ.
  TITLE     Substrate-driven assembly of a translocon for multipass membrane
            proteins
  JOURNAL   Nature 611 (7934), 167-172 (2022)
   PUBMED   36261522
REFERENCE   2  (bases 1 to 4320)
  AUTHORS   McGilvray PT, Anghel SA, Sundaram A, Zhong F, Trnka MJ, Fuller JR,
            Hu H, Burlingame AL and Keenan RJ.
  TITLE     An ER translocon for multi-pass membrane protein biogenesis
  JOURNAL   Elife 9, e56889 (2020)
   PUBMED   32820719
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4320)
  AUTHORS   Pfefferle S, Schopf J, Kogl M, Friedel CC, Muller MA, Carbajo-Lozoya
            J, Stellberger T, von Dall'Armi E, Herzog P, Kallies S, Niemeyer D,
            Ditt V, Kuri T, Zust R, Pumpor K, Hilgenfeld R, Schwarz F, Zimmer R,
            Steffen I, Weber F, Thiel V, Herrler G, Thiel HJ, Schwegmann-Wessels
            C, Pohlmann S, Haas J, Drosten C and von Brunn A.
  TITLE     The SARS-coronavirus-host interactome: identification of
            cyclophilins as target for pan-coronavirus inhibitors
  JOURNAL   PLoS Pathog 7 (10), e1002331 (2011)
   PUBMED   22046132
REFERENCE   4  (bases 1 to 4320)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   5  (bases 1 to 4320)
  AUTHORS   Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G,
            Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E,
            Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM,
            Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C,
            Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M,
            Clark LM, Cohn JD, Denys M, Detter JC, Dickson M,
            Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos
            D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady
            DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand
            CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H,
            Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y,
            Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ,
            Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S,
            Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer
            J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH, Scott
            D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R, Tesmer
            JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M, Tsai M,
            Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL, Wills PL,
            Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA, Deaven L,
            Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler EE, Gilna
            P, Lucas SM, Myers RM, Rubin EM and Pennacchio LA.
  TITLE     The sequence and analysis of duplication-rich human chromosome 16
  JOURNAL   Nature 432 (7020), 988-994 (2004)
   PUBMED   15616553
REFERENCE   6  (bases 1 to 4320)
  AUTHORS   Haffner C, Frauli M, Topp S, Irmler M, Hofmann K, Regula JT,
            Bally-Cuif L and Haass C.
  TITLE     Nicalin and its binding partner Nomo are novel Nodal signaling
            antagonists
  JOURNAL   EMBO J 23 (15), 3041-3050 (2004)
   PUBMED   15257293
REFERENCE   7  (bases 1 to 4320)
  AUTHORS   Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J,
            Mason T, Crosby ML, Barnstead M, Cronin L, Deslattes Mays A, Cao Y,
            Xu RX, Kang HL, Mitchell S, Eichler EE, Harris PC, Venter JC and
            Adams MD.
  TITLE     Genome duplications and other features in 12 Mb of DNA sequence from
            human chromosome 16p and 16q
  JOURNAL   Genomics 60 (3), 295-308 (1999)
   PUBMED   10493829
REFERENCE   8  (bases 1 to 4320)
  AUTHORS   van Soest,S., Swart,J., Tijmes,N., Sandkuijl,L.A., Rommers,J. and
            Bergen,A.A.
  TITLE     A locus for autosomal recessive pseudoxanthoma elasticum, with
            penetrance of vascular symptoms in carriers, maps to chromosome
            16p13.1
  JOURNAL   Genome Res 7 (8), 830-834 (1997)
   PUBMED   9267806
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000399336.9/ ENSP00000382274.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC136624.3, DB461977.1,
            DR760717.1, CD653707.1, BC006531.2 and BQ948282.1.
            On Nov 22, 2018 this sequence version replaced NM_001004067.3.
            Summary: This gene encodes a protein originally thought to be
            related to the collagenase gene family. This gene is one of three
            highly similar genes in a duplicated region on the short arm of
            chromosome 16. These three genes encode closely related proteins
            that may have the same function. The protein encoded by one of
            these genes has been identified as part of a protein complex that
            participates in the Nodal signaling pathway during vertebrate
            development. Mutations in ABCC6, which is located nearby, rather
            than mutations in this gene are associated with pseudoxanthoma
            elasticum. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4320
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.11"
     gene            1..4320
                     /gene="NOMO3"
                     /gene_synonym="Nomo"
                     /note="NODAL modulator 3"
                     /db_xref="GeneID:408050"
                     /db_xref="HGNC:HGNC:25242"
                     /db_xref="MIM:609159"
     CDS             140..3808
                     /gene="NOMO3"
                     /gene_synonym="Nomo"
                     /note="pM5 protein, middle copy; pM5 protein 3; BOS complex
                     subunit NOMO3"
                     /codon_start=1
                     /product="BOS complex subunit NOMO3 precursor"
                     /protein_id="NP_001004067.1"
                     /db_xref="CCDS:CCDS42123.1"
                     /db_xref="GeneID:408050"
                     /db_xref="HGNC:HGNC:25242"
                     /db_xref="MIM:609159"
                     /translation="MLVGQGAGPLGPAVVTAAVVLLLSGVGPAHGSEDIVVGCGGFVKS
                     DVEINYSLIEIKLYTKHGTLKYQTDCAPNNGYFMIPLYDKGDFILKIEPPLGWSFEPTT
                     VELHVDGVSDICTKGGDINFVFTGFSVNGKVLSKGQPLGPAGVQVSLRNTGTEAKIQST
                     VTQPGGKFAFFKVLPGDYEILATHPTWALKEASTTVRVTNSNANAASPLIVAGYNVSGS
                     VRSDGEPMKGVKFLLFSSLVTKEDVLGCNVSPVPGFQPQDESLVYLCYTVSREDGSFSF
                     YSLPSGGYTVIPFYRGERITFDVAPSRLDFTVEHDSLKIEPVFHVMGFSVTGRVLNGPE
                     GDGVPEAVVTLNNQIKVKTKADGSFRLENITTGTYTIHAQKEHLYFETVTIKIAPNTPQ
                     LADIVATGFSVCGQISIIRFPDTVKQMNKYKVVLSSQDKDKSLVTVETDAHGSFCFKAN
                     PGTYKVQVMVPEAETRAGLTLKPQTFPLTVTDRPVMDVAFVQFLASVSGKVSCLDTCGD
                     LLVTLQSLSRQGEKRSLQLSGKVNAMTFTFDNVLPGKYKISIMHEDWCWKNKSLEVEVL
                     EDDVSAVEFRQTGYMLRCSLSHAITLEFYQDGNGRENVGIYNLSKGVNRFCLSKPGVYK
                     VTPRSCHRFEQAFYTYDTSSPSILTLTAIRHHVLGTITTDKMMDVTVTIKSSIDSEPAL
                     VLGPLKSVQELRREQQLAEIEARRQEREKNGNEEGEERMTKPPVQEMVDELQGPFSYDF
                     SYWARSGEKITVTPSSKELLFYPPSMEAVVSGESCPGKLIEIHGKAGLFLEGQIHPELE
                     GVEIVISEKGASSPLITVFTDDKGAYSVGPLHSDLEYTVTSQKEGYVLTAVEGTIGDFK
                     AYALAGVSFEIKAEDDQPLPGVLLSLSGGLFRSNLLTQDNGILTFSNLSPGQYYFKPMM
                     KEFRFEPSSQMIEVQEGQNLKITITGYRTAYSCYGTVSSLNGEPEQGVAMEAVGQNDCS
                     IYGEDTVTDEEGKFRLRGLLPGCVYHVQLKAEGNDHIERALPHHRVIEVGNNDIDDVNI
                     IVFRQINQFDLSGNVITSSEYLPTLWVKLYKSENLDNPIQTVSLGQSLFFHFPPLLRDG
                     ENYVVLLDSTLPRSQYDYILPQVSFTAVGYHKHITLIFNPTRKLPEQDIAQGSYIALPL
                     TLLVLLAGYNHDKLIPLLLQLTSRLQGVGALGQAASDNSGPEDAKRQAKKQKTRRT"
     sig_peptide     140..232
                     /gene="NOMO3"
                     /gene_synonym="Nomo"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     233..3805
                     /gene="NOMO3"
                     /gene_synonym="Nomo"
                     /product="BOS complex subunit NOMO3. /id=PRO_0000021821"
                     /note="propagated from UniProtKB/Swiss-Prot (P69849.2)"
     misc_feature    287..289
                     /gene="NOMO3"
                     /gene_synonym="Nomo"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P69849.2); glycosylation site"
     misc_feature    791..793
                     /gene="NOMO3"
                     /gene_synonym="Nomo"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P69849.2); glycosylation site"
     misc_feature    1991..1993
                     /gene="NOMO3"
                     /gene_synonym="Nomo"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P69849.2); glycosylation site"
     misc_feature    3605..3667
                     /gene="NOMO3"
                     /gene_synonym="Nomo"
                     /note="propagated from UniProtKB/Swiss-Prot (P69849.2);
                     transmembrane region"
     misc_feature    3731..3805
                     /gene="NOMO3"
                     /gene_synonym="Nomo"
                     /note="propagated from UniProtKB/Swiss-Prot (P69849.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4287..4292
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NOMO3"
                     /gene_synonym="Nomo"
                     /note="hexamer: AATAAA"
     polyA_site      4320
                     /gene="NOMO3"
                     /gene_synonym="Nomo"
                     /note="major polyA site"
ORIGIN
        1 gcgcggcggc ggctggcggc ggcggtgggg cggggcctgg gctgtcagcc ggcctaggag
       61 gaggaaggag cctgcggcgt gcagtgtgag gggcgggacc cggctgccgg cggtgggtct
      121 agctggggga ggtcgggcca tgctggtggg ccagggcgcg gggccgctgg ggcccgcggt
      181 ggtcaccgcc gcggtggtgc tgctgctgag cggcgtgggg ccggcgcacg gctcggagga
      241 catcgtggtg ggctgcggtg gcttcgtcaa gtcggacgtg gagatcaact actctctcat
      301 cgagataaag ctgtacacca agcatgggac tttgaaatac cagacagact gtgcccctaa
      361 taatggttac tttatgatcc ctttgtatga taagggggat ttcattctga agattgagcc
      421 tcccctaggg tggagttttg agccgacgac cgtggagctc catgtggatg gagtcagtga
      481 catctgcaca aagggtgggg acatcaactt tgtcttcact gggttctctg tgaatggcaa
      541 ggtcctcagc aaagggcagc ccctgggtcc tgcgggagtt caggtgtctc tgagaaacac
      601 tgggaccgaa gcaaagatcc agtccacagt tacacagcct ggcggaaagt ttgcattttt
      661 taaagttctg cctggagatt atgaaatcct cgcaactcat ccaacctggg cgttgaaaga
      721 ggcaagcacc acagtgcgtg taaccaactc caatgccaat gcggccagtc ccctcatagt
      781 tgctggctac aatgtgtctg gctctgtccg aagtgatggg gagcccatga aaggcgtgaa
      841 gtttcttctc ttttcttctt tagtaactaa agaggatgtc ctgggctgca atgtctcacc
      901 agtgcctggg ttccagcccc aagacgagag tctggtgtat ttgtgctaca cggtctccag
      961 agaagatggc tcgttctctt tctattcctt gccaagtggg ggctacactg tgattccgtt
     1021 ctatcgaggg gagaggatta cctttgatgt ggcgccttcc agacttgact tcacagtgga
     1081 gcatgacagc ttgaaaatcg agcccgtgtt ccacgtcatg ggattctccg tcaccgggag
     1141 ggtcttgaac ggacccgaag gagatggtgt tccagaagca gtagtcaccc tgaataacca
     1201 aatcaaagtt aaaacaaaag ctgatggctc attccgcctt gagaacataa ccacagggac
     1261 atacaccatc catgctcaga aagagcacct ctactttgaa acggtcacca tcaaaattgc
     1321 accaaacaca cctcagctgg ctgacattgt tgcaacaggg ttcagtgtct gtggtcagat
     1381 atcaatcatt cgcttccccg acaccgtcaa gcagatgaat aaatacaaag ttgtcctgtc
     1441 atctcaagac aaggacaagt ctttggtcac cgtggagaca gatgctcatg gatcattttg
     1501 ttttaaagca aacccaggga cttacaaagt gcaggtgatg gttcctgagg cagaaaccag
     1561 agcagggctg acgttgaaac cccagacatt tcctcttact gtgaccgaca ggcctgtgat
     1621 ggatgtggcc tttgtacagt tcttggcatc agtttctggg aaagtctctt gtttggacac
     1681 ctgtggtgac ttgctggtga ctctacagtc cctgagccgc cagggtgaga agcggagcct
     1741 ccagctctcc ggcaaggtca acgccatgac tttcaccttt gacaacgtgc tccctggaaa
     1801 atacaaaata agcatcatgc atgaggattg gtgctggaag aacaagagcc tggaggtgga
     1861 agtgctggag gatgacgtgt ctgcagttga gttcaggcag acgggctaca tgctgagatg
     1921 ttccctgtct cacgccatca ctctggaatt ttatcaggat ggaaatgggc gtgagaatgt
     1981 ggggatttat aacctctcca aaggagtcaa ccgattctgc ctgtccaagc ctggtgtgta
     2041 caaagtgacc cctcgctcct gccaccggtt tgagcaagcg ttctacacct atgacacgtc
     2101 ttcacctagt atcttgacat tgacagccat tcgccaccat gtccttggaa ctatcaccac
     2161 cgacaaaatg atggatgtca ctgtgactat caagtcttcc atcgacagtg aacccgcctt
     2221 ggtcttaggc cctctgaagt ctgtgcagga gctgcggagg gagcagcagc tggctgagat
     2281 cgaggcccgc aggcaggaga gggagaaaaa cggcaatgag gaaggtgaag aaagaatgac
     2341 caagcctcct gtgcaggaga tggtagatga gttacaaggc cccttctcgt atgatttctc
     2401 ttactgggcg cggtctggag agaaaatcac tgttacaccg tcatctaaag agctgctctt
     2461 ttatccccct tcaatggaag ccgttgtcag tggagaaagc tgcccaggga agctgatcga
     2521 gatccacggg aaggcaggcc tgtttttaga aggccagatc caccccgagt tggaaggagt
     2581 cgagattgtc atcagtgaaa agggggcaag ttcaccgctg atcacagtct ttactgatga
     2641 caaaggtgcc tacagtgttg gccccctgca cagtgacctg gagtacacgg tgacctcaca
     2701 gaaggagggc tatgttctga ctgcagtgga aggaaccatc ggagacttca aggcctatgc
     2761 cctggcaggc gtaagctttg agataaaagc tgaggatgac cagcccctcc cgggagtcct
     2821 cttatccctg agtggtggcc tgtttcgttc caacctcttg acccaggaca acggcattct
     2881 gacattctca aacctgagcc ctggccagta ttacttcaaa cccatgatga aggagttccg
     2941 gtttgagcca tcctcacaga tgatcgaggt gcaggaaggc cagaacctga agatcaccat
     3001 cacggggtac cgaaccgctt acagttgcta tggcacagtg tcttccttaa acggagagcc
     3061 cgaacaaggg gttgccatgg aagcggtggg ccagaacgac tgcagcattt acggagaaga
     3121 caccgtgaca gacgaagagg gcaagttcag attacgtgga ttgctgccgg gatgtgtgta
     3181 ccacgttcag ctcaaggcag aaggcaacga ccacattgag cgggcgctcc cccaccatag
     3241 ggtgattgag gttgggaata atgacatcga tgatgtaaac atcatagttt tccggcagat
     3301 taatcaattt gatttaagtg gaaatgtgat cacttcctct gaataccttc ctacgttatg
     3361 ggtcaagctt tacaaaagcg aaaacctcga caatccaatc cagacagttt cccttggcca
     3421 gtccctgttc ttccatttcc ccccactgct cagagatggc gagaactatg ttgtgcttct
     3481 ggactccaca ctccccagat cccagtatga ctacatcttg cctcaagttt ctttcaccgc
     3541 agtgggctac cataaacaca tcaccttgat ttttaatccc acgaggaagc tgcctgaaca
     3601 ggacatcgca caaggatcct acattgccct gccattgacg ctgctggttc tgctggccgg
     3661 ttacaaccat gacaagctca ttcctttgct gctgcagttg acaagccggc tacagggagt
     3721 cggcgcgctc ggccaggcag cctctgacaa tagcggccca gaagatgcaa agagacaagc
     3781 caagaaacag aagacaaggc ggacgtgagg aggaagggga cagttgcagt ctcacttggg
     3841 acaggccaca gccaggggtc cggccactac ccgcccgtgg gataaaagcc aaaagcatgc
     3901 gtcagctaac ttcagcctgt gctgctgggc ccgcacccca tgtcccttgt cactgtggca
     3961 tcctgcaccc atcctcaccc ctccgtagag cccctcgtgc aatgcaatga atggaccctc
     4021 ctgtcactct gctgaacaga atttattttc tgagtcaaat ataatttatt attatttttg
     4081 tcaaagaagt atttaagctg tgctgtggtg tgagaatgtc attcttgatc ttcagccttc
     4141 gtttgcaaga agagttccag ttgatgtggt gtttggttcc atggcggggt accctaggga
     4201 ttcatctgtt ttcttcactt ccctttgcat ctgagatcct gctggaaacc acggcaacct
     4261 gtatccacta ttaggaggta aaaatcaata aaatggccca ttcatttgtg ttgtagctca
//
LOCUS       NM_001004106            3002 bp    mRNA    linear   PRI 22-JAN-2023
DEFINITION  Homo sapiens G protein-coupled receptor kinase 6 (GRK6), transcript
            variant 1, mRNA.
ACCESSION   NM_001004106
VERSION     NM_001004106.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3002)
  AUTHORS   Stegen M and Frey UH.
  TITLE     The Role of G Protein-Coupled Receptor Kinase 6 Regulation in
            Inflammation and Pain
  JOURNAL   Int J Mol Sci 23 (24), 15880 (2022)
   PUBMED   36555521
  REMARK    GeneRIF: The Role of G Protein-Coupled Receptor Kinase 6 Regulation
            in Inflammation and Pain. Review article Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 3002)
  AUTHORS   Song S, Zhao Y, Wang X, Tong X, Chen X and Xiong Q.
  TITLE     M2 macrophages-derived exosomal miR-3917 promotes the progression of
            lung cancer via targeting GRK6
  JOURNAL   Biol Chem 404 (1), 41-57 (2022)
   PUBMED   36261031
  REMARK    GeneRIF: M2 macrophages-derived exosomal miR-3917 promotes the
            progression of lung cancer via targeting GRK6. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 3002)
  AUTHORS   Stegen M, Engler A, Ochsenfarth C, Manthey I, Peters J, Siffert W
            and Frey UH.
  TITLE     Characterization of the G protein-coupled receptor kinase 6 promoter
            reveals a functional CREB binding site
  JOURNAL   PLoS One 16 (2), e0247087 (2021)
   PUBMED   33600497
  REMARK    GeneRIF: Characterization of the G protein-coupled receptor kinase 6
            promoter reveals a functional CREB binding site. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3002)
  AUTHORS   Vistrup-Parry M, Sneddon WB, Bach S, Stromgaard K, Friedman PA and
            Mamonova T.
  TITLE     Multisite NHERF1 phosphorylation controls GRK6A regulation of
            hormone-sensitive phosphate transport
  JOURNAL   J Biol Chem 296, 100473 (2021)
   PUBMED   33639163
  REMARK    GeneRIF: Multisite NHERF1 phosphorylation controls GRK6A regulation
            of hormone-sensitive phosphate transport.
REFERENCE   5  (bases 1 to 3002)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 3002)
  AUTHORS   Bullrich F, Druck T, Kunapuli P, Gomez J, Gripp KW, Schlegelberger
            B, Lasota J, Aronson M, Cannizzaro LA, Huebner K et al.
  TITLE     Chromosomal mapping of the genes GPRK5 and GPRK6 encoding G
            protein-coupled receptor kinases GRK5 and GRK6
  JOURNAL   Cytogenet Cell Genet 70 (3-4), 250-254 (1995)
   PUBMED   7789183
REFERENCE   7  (bases 1 to 3002)
  AUTHORS   Stoffel RH, Randall RR, Premont RT, Lefkowitz RJ and Inglese J.
  TITLE     Palmitoylation of G protein-coupled receptor kinase, GRK6. Lipid
            modification diversity in the GRK family
  JOURNAL   J Biol Chem 269 (45), 27791-27794 (1994)
   PUBMED   7961702
REFERENCE   8  (bases 1 to 3002)
  AUTHORS   Loudon RP and Benovic JL.
  TITLE     Expression, purification, and characterization of the G
            protein-coupled receptor kinase GRK6
  JOURNAL   J Biol Chem 269 (36), 22691-22697 (1994)
   PUBMED   8077221
REFERENCE   9  (bases 1 to 3002)
  AUTHORS   Haribabu B and Snyderman R.
  TITLE     Identification of additional members of human G-protein-coupled
            receptor kinase multigene family
  JOURNAL   Proc Natl Acad Sci U S A 90 (20), 9398-9402 (1993)
   PUBMED   8415712
REFERENCE   10  (bases 1 to 3002)
  AUTHORS   Benovic JL and Gomez J.
  TITLE     Molecular cloning and expression of GRK6. A new member of the G
            protein-coupled receptor kinase family
  JOURNAL   J Biol Chem 268 (26), 19521-19527 (1993)
   PUBMED   8366096
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L16862.1, SRR1163658.111172.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000355472.10/ ENSP00000347655.5
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC145098.2, BI258860.1 and
            BC009277.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001004106.2.
            Summary: This gene encodes a member of the guanine
            nucleotide-binding protein (G protein)-coupled receptor kinase
            subfamily of the Ser/Thr protein kinase family. The protein
            phosphorylates the activated forms of G protein-coupled receptors
            thus initiating their deactivation. Several transcript variants
            encoding different isoforms have been described for this gene.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) uses an alternate acceptor
            splice site in the last exon, compared to variant 2, resulting in a
            shorter isoform (A) compared to isoform B.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3002
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     gene            1..3002
                     /gene="GRK6"
                     /gene_synonym="GPRK6"
                     /note="G protein-coupled receptor kinase 6"
                     /db_xref="GeneID:2870"
                     /db_xref="HGNC:HGNC:4545"
                     /db_xref="MIM:600869"
     CDS             171..1901
                     /gene="GRK6"
                     /gene_synonym="GPRK6"
                     /EC_number="2.7.11.16"
                     /note="isoform A is encoded by transcript variant 1"
                     /codon_start=1
                     /product="G protein-coupled receptor kinase 6 isoform A"
                     /protein_id="NP_001004106.1"
                     /db_xref="CCDS:CCDS34303.1"
                     /db_xref="GeneID:2870"
                     /db_xref="HGNC:HGNC:4545"
                     /db_xref="MIM:600869"
                     /translation="MELENIVANTVLLKAREGGGGNRKGKSKKWRQMLQFPHISQCEEL
                     RLSLERDYHSLCERQPIGRLLFREFCATRPELSRCVAFLDGVAEYEVTPDDKRKACGRQ
                     LTQNFLSHTGPDLIPEVPRQLVTNCTQRLEQGPCKDLFQELTRLTHEYLSVAPFADYLD
                     SIYFNRFLQWKWLERQPVTKNTFRQYRVLGKGGFGEVCACQVRATGKMYACKKLEKKRI
                     KKRKGEAMALNEKQILEKVNSRFVVSLAYAYETKDALCLVLTLMNGGDLKFHIYHMGQA
                     GFPEARAVFYAAEICCGLEDLHRERIVYRDLKPENILLDDHGHIRISDLGLAVHVPEGQ
                     TIKGRVGTVGYMAPEVVKNERYTFSPDWWALGCLLYEMIAGQSPFQQRKKKIKREEVER
                     LVKEVPEEYSERFSPQARSLCSQLLCKDPAERLGCRGGSAREVKEHPLFKKLNFKRLGA
                     GMLEPPFKPDPQAIYCKDVLDIEQFSTVKGVELEPTDQDFYQKFATGSVPIPWQNEMVE
                     TECFQELNVFGLDGSVPPDLDWKGQPPAPPKKGLLQRLFSRQDCCGNCSDSEEELPTRL
                     "
     misc_feature    171..725
                     /gene="GRK6"
                     /gene_synonym="GPRK6"
                     /note="propagated from UniProtKB/Swiss-Prot (P43250.2);
                     Region: N-terminal"
     misc_feature    1620..1622
                     /gene="GRK6"
                     /gene_synonym="GPRK6"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P43250.2); phosphorylation site"
     misc_feature    1623..1625
                     /gene="GRK6"
                     /gene_synonym="GPRK6"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P43250.2); phosphorylation site"
     misc_feature    1866..1868
                     /gene="GRK6"
                     /gene_synonym="GPRK6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O70293; propagated from
                     UniProtKB/Swiss-Prot (P43250.2); phosphorylation site"
     misc_feature    1872..1874
                     /gene="GRK6"
                     /gene_synonym="GPRK6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O70293; propagated from
                     UniProtKB/Swiss-Prot (P43250.2); phosphorylation site"
     polyA_site      2168
                     /gene="GRK6"
                     /gene_synonym="GPRK6"
     regulatory      2712..2717
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRK6"
                     /gene_synonym="GPRK6"
                     /note="hexamer: AATAGA"
     polyA_site      2733
                     /gene="GRK6"
                     /gene_synonym="GPRK6"
                     /note="major polyA site"
     regulatory      2897..2902
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRK6"
                     /gene_synonym="GPRK6"
                     /note="hexamer: ATTACA"
     polyA_site      2941
                     /gene="GRK6"
                     /gene_synonym="GPRK6"
     polyA_site      2955
                     /gene="GRK6"
                     /gene_synonym="GPRK6"
     polyA_site      2960
                     /gene="GRK6"
                     /gene_synonym="GPRK6"
     polyA_site      3002
                     /gene="GRK6"
                     /gene_synonym="GPRK6"
ORIGIN
        1 ggagagtgcg cggctggctg cggcggccgg ggaggccggg gaggccgcgg cgcggtcact
       61 gcgagccgag ccgagccgcg ccgagccgcg ccgatcgcca tccggcctcg gcactcgcgc
      121 gcgatcccgg ccggcggcgc ggcccggcgg gccaggcggc gccacagccc atggagctcg
      181 agaacatcgt agcgaacacg gtgctactca aggcccggga aggtggcggt ggaaatcgca
      241 aaggcaaaag caagaaatgg cggcagatgc tccagttccc tcacatcagc cagtgcgaag
      301 agctgcggct cagcctcgag cgtgactatc acagcctgtg cgagcggcag cccattgggc
      361 gcctgctgtt ccgagagttc tgtgccacga ggccggagct gagccgctgc gtcgccttcc
      421 tggatggggt ggccgagtat gaagtgaccc cggatgacaa gcggaaggca tgtgggcggc
      481 agctaacgca gaattttctg agccacacgg gtcctgacct catccctgag gtcccccggc
      541 agctggtgac gaactgcacc cagcggctgg agcagggtcc ctgcaaagac cttttccagg
      601 aactcacccg gctgacccac gagtacctga gcgtggcccc ttttgccgac tacctcgaca
      661 gcatctactt caaccgtttc ctgcagtgga agtggctgga aaggcagcca gtgaccaaaa
      721 acaccttcag gcaataccga gtcctgggca aaggtggctt tggggaggtg tgcgcctgcc
      781 aggtgcgggc cacaggtaag atgtatgcct gcaagaagct agagaaaaag cggatcaaga
      841 agcggaaagg ggaggccatg gcgctgaacg agaagcagat cctggagaaa gtgaacagta
      901 ggtttgtagt gagcttggcc tacgcctatg agaccaagga cgcgctgtgc ctggtgctga
      961 cactgatgaa cgggggcgac ctcaagttcc acatctacca catgggccag gctggcttcc
     1021 ccgaagcgcg ggccgtcttc tacgccgccg agatctgctg tggcctggag gacctgcacc
     1081 gggagcgcat cgtgtacagg gacctgaagc ccgagaacat cttgctggat gaccacggcc
     1141 acatccgcat ctctgacctg ggactagctg tgcatgtgcc cgagggccag accatcaaag
     1201 ggcgtgtggg caccgtgggt tacatggctc cggaggtggt gaagaatgaa cggtacacgt
     1261 tcagccctga ctggtgggcg ctcggctgcc tcctgtacga gatgatcgca ggccagtcgc
     1321 ccttccagca gaggaagaag aagatcaagc gggaggaggt ggagcggctg gtgaaggagg
     1381 tccccgagga gtattccgag cgcttttccc cgcaggcccg ctcactttgc tcacagctcc
     1441 tctgcaagga ccctgccgaa cgcctggggt gtcgtggggg cagtgcccgc gaggtgaagg
     1501 agcaccccct ctttaagaag ctgaacttca agcggctggg agctggcatg ctggagccgc
     1561 cgttcaagcc tgacccccag gccatttact gcaaggatgt tctggacatt gaacagttct
     1621 ctacggtcaa gggcgtggag ctggagccta ccgaccagga cttctaccag aagtttgcca
     1681 caggcagtgt gcccatcccc tggcagaacg agatggtgga gaccgagtgc ttccaagagc
     1741 tgaatgtctt tgggctggat ggctcagttc ccccagacct ggactggaag ggccagccac
     1801 ctgcacctcc taaaaaggga ctgctgcaga gactcttcag tcgccaagat tgctgtggaa
     1861 actgcagcga cagcgaggaa gagctcccca cccgcctcta gcccccagcc cgaggccccc
     1921 accagcagtt ggcggtagca gctactccga gcgccgttta cagttttgca cagtgatctt
     1981 ccccattgtc cactcaagtc gtggcctggg gaacacagac ggagctgtcc ccagtgtcct
     2041 ccgtccctca gcccctggcc tggctgagtt tggcagggcc tgggccatcc ctgggacaaa
     2101 ggtgcgtccc ttcagctctt ctccgtggag ctcggggctt tctgtattta tgtatttgta
     2161 cgaatgtata tagcgaccag agcattctta attcccgccg cagacctggc gcccccgcct
     2221 tggctcctgg gggcagccag ccctggctgg gagagcggga gctggcagag gagccactgc
     2281 caaactcaag gctcctctgg cccagcttgg atggctgagg gtggtcacac ccctgagcct
     2341 tcagcactgt gctggccacc ccggcctctg agtaagactc gtgcctcccc ctgctgccct
     2401 gggctcaggc tgctaccctc tggggcccaa agctgtccct tctcagtgct tgtcagcgct
     2461 gggtctgggg cctctgtatg ccctaggcct gtgccaaagt ggccagagat tgggctgcct
     2521 gtgataccca tcagcccact gccccggccg gcccagatag gtctgcctct gccttccagc
     2581 tcccacagcc tggtccctga tactgggctc tgtcctgcag acacctcttt cagaaacgcc
     2641 caagcccagc ccctaggagg gggtggggca tccctggtca accctcaaac attccggact
     2701 cccctcataa caatagacac atgtgcccag caataatccg ccccttcctg tgtgcgcctg
     2761 tggggtgcgt gcgcgcgcgt gtgtacctgt gtgggtgaag gggatagggc gaggctgtgc
     2821 ctgtgcccca ggtcccagcc ctggcccttc ccagactgtg atggccatcc tggtcccagt
     2881 gttagggtag catgggatta cagggccctg ttttttccat atttaaagcc aatttttatt
     2941 actcgttttg tccaacgtaa gctgccacat gtctctgtgt gaatagtccg agcacaaacc
     3001 tg
//
LOCUS       NM_001004125            1476 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens tumor suppressor candidate 1 (TUSC1), mRNA.
ACCESSION   NM_001004125
VERSION     NM_001004125.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1476)
  AUTHORS   Yan D, Liu W, Liu Y and Zhu X.
  TITLE     Circular RNA circ_0065378 upregulates tumor suppressor candidate 1
            by competitively binding with miR-4701-5p to alleviate colorectal
            cancer progression
  JOURNAL   J Gastroenterol Hepatol 37 (6), 1107-1118 (2022)
   PUBMED   35434854
  REMARK    GeneRIF: Circular RNA circ_0065378 upregulates tumor suppressor
            candidate 1 by competitively binding with miR-4701-5p to alleviate
            colorectal cancer progression.
REFERENCE   2  (bases 1 to 1476)
  AUTHORS   Zouboulis CC, Nogueira da Costa A, Fimmel S and Zouboulis KC.
  TITLE     Apocrine glands are bystanders in hidradenitis suppurativa and their
            involvement is gender specific
  JOURNAL   J Eur Acad Dermatol Venereol 34 (7), 1555-1563 (2020)
   PUBMED   32031713
REFERENCE   3  (bases 1 to 1476)
  AUTHORS   Sato Y, Hasegawa C, Tajima A, Nozawa S, Yoshiike M, Koh E, Kanaya J,
            Namiki M, Matsumiya K, Tsujimura A, Komatsu K, Itoh N, Eguchi J,
            Yamauchi A and Iwamoto T.
  TITLE     Association of TUSC1 and DPF3 gene polymorphisms with male
            infertility
  JOURNAL   J Assist Reprod Genet 35 (2), 257-263 (2018)
   PUBMED   28975488
  REMARK    GeneRIF: TUSC1 single nucleotide polymorphisms were significantly
            correlated with azoospermia and/or oligozoospermia in a Japanese
            population.
REFERENCE   4  (bases 1 to 1476)
  AUTHORS   Zhang R, Yu W, Liang G, Jia Z, Chen Z, Zhao L, Yuan Y, Zhou X, Li D,
            Shen S, Liu N, Zhang A, Wang H and Wang G.
  TITLE     Tumor Suppressor Candidate 1 Suppresses Cell Growth and Predicts
            Better Survival in Glioblastoma
  JOURNAL   Cell Mol Neurobiol 37 (1), 37-42 (2017)
   PUBMED   26897357
  REMARK    GeneRIF: The expression of TUSC1 is significantly decreased in
            glioblastoma brain tumor tissues.
REFERENCE   5  (bases 1 to 1476)
  AUTHORS   Bunyavanich,S., Schadt,E.E., Himes,B.E., Lasky-Su,J., Qiu,W.,
            Lazarus,R., Ziniti,J.P., Cohain,A., Linderman,M., Torgerson,D.G.,
            Eng,C.S., Pino-Yanes,M., Padhukasahasram,B., Yang,J.J.,
            Mathias,R.A., Beaty,T.H., Li,X., Graves,P., Romieu,I., Navarro
            Bdel,R., Salam,M.T., Vora,H., Nicolae,D.L., Ober,C., Martinez,F.D.,
            Bleecker,E.R., Meyers,D.A., Gauderman,W.J., Gilliland,F.,
            Burchard,E.G., Barnes,K.C., Williams,L.K., London,S.J., Zhang,B.,
            Raby,B.A. and Weiss,S.T.
  TITLE     Integrated genome-wide association, coexpression network, and
            expression single nucleotide polymorphism analysis identifies novel
            pathway in allergic rhinitis
  JOURNAL   BMC Med Genomics 7, 48 (2014)
   PUBMED   25085501
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1476)
  AUTHORS   Kosova G, Scott NM, Niederberger C, Prins GS and Ober C.
  TITLE     Genome-wide association study identifies candidate genes for male
            fertility traits in humans
  JOURNAL   Am J Hum Genet 90 (6), 950-961 (2012)
   PUBMED   22633400
REFERENCE   7  (bases 1 to 1476)
  AUTHORS   Fox CS, Liu Y, White CC, Feitosa M, Smith AV, Heard-Costa N, Lohman
            K, Johnson AD, Foster MC, Greenawalt DM, Griffin P, Ding J, Newman
            AB, Tylavsky F, Miljkovic I, Kritchevsky SB, Launer L, Garcia M,
            Eiriksdottir G, Carr JJ, Gudnason V, Harris TB, Cupples LA and
            Borecki IB.
  CONSRTM   GIANT Consortium; MAGIC Consortium; GLGC Consortium
  TITLE     Genome-wide association for abdominal subcutaneous and visceral
            adipose reveals a novel locus for visceral fat in women
  JOURNAL   PLoS Genet 8 (5), e1002695 (2012)
   PUBMED   22589738
REFERENCE   8  (bases 1 to 1476)
  AUTHORS   Furney SJ, Simmons A, Breen G, Pedroso I, Lunnon K, Proitsi P,
            Hodges A, Powell J, Wahlund LO, Kloszewska I, Mecocci P, Soininen H,
            Tsolaki M, Vellas B, Spenger C, Lathrop M, Shen L, Kim S, Saykin AJ,
            Weiner MW and Lovestone S.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative; AddNeuroMed Consortium
  TITLE     Genome-wide association with MRI atrophy measures as a quantitative
            trait locus for Alzheimer's disease
  JOURNAL   Mol Psychiatry 16 (11), 1130-1138 (2011)
   PUBMED   21116278
REFERENCE   9  (bases 1 to 1476)
  AUTHORS   Yang XR, Liang X, Pfeiffer RM, Wheeler W, Maeder D, Burdette L,
            Yeager M, Chanock S, Tucker MA and Goldstein AM.
  TITLE     Associations of 9p21 variants with cutaneous malignant melanoma,
            nevi, and pigmentation phenotypes in melanoma-prone families with
            and without CDKN2A mutations
  JOURNAL   Fam Cancer 9 (4), 625-633 (2010)
   PUBMED   20574843
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10  (bases 1 to 1476)
  AUTHORS   Shan Z, Parker T and Wiest JS.
  TITLE     Identifying novel homozygous deletions by microsatellite analysis
            and characterization of tumor suppressor candidate 1 gene, TUSC1, on
            chromosome 9p in human lung cancer
  JOURNAL   Oncogene 23 (39), 6612-6620 (2004)
   PUBMED   15208665
  REMARK    GeneRIF: TUSC1 may play a role in lung tumorigenesis
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC110824.1, AY168647.2 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000358022.6/ ENSP00000350716.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590322.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 11, 2020 this sequence version replaced NM_001004125.2.
            Summary: This gene is located within the region of chromosome 9p
            that harbors tumor suppressor genes critical in carcinogenesis. It
            is an intronless gene which is downregulated in non-small-cell lung
            cancer and small-cell lung cancer cell lines, suggesting that it
            may play a role in lung tumorigenesis. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1476
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.2"
     gene            1..1476
                     /gene="TUSC1"
                     /gene_synonym="CCDC89B; TSG-9; TSG9"
                     /note="tumor suppressor candidate 1"
                     /db_xref="GeneID:286319"
                     /db_xref="HGNC:HGNC:31010"
                     /db_xref="MIM:610529"
     misc_feature    124..126
                     /gene="TUSC1"
                     /gene_synonym="CCDC89B; TSG-9; TSG9"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MGP"
     CDS             133..762
                     /gene="TUSC1"
                     /gene_synonym="CCDC89B; TSG-9; TSG9"
                     /codon_start=1
                     /product="tumor suppressor candidate gene 1 protein"
                     /protein_id="NP_001004125.2"
                     /db_xref="CCDS:CCDS34999.2"
                     /db_xref="GeneID:286319"
                     /db_xref="HGNC:HGNC:31010"
                     /db_xref="MIM:610529"
                     /translation="MWRMRGGATRRGSCCGGDGAADGRGPGRSGRARGGGSPSGGGGGV
                     GWRGRADGARQQLEERFADLAASHLEAIRARDEWDRQNARLRQENARLRLENRRLKREN
                     RSLFRQALRLPGEGGNGTPAEARRVPEEASTNRRARDSGREDEPGSPRALRARLEKLEA
                     MYRRALLQLHLEQRGPRPSGDKEEQPLQEPDSGLRSRDSEPSGPWL"
     regulatory      1452..1457
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUSC1"
                     /gene_synonym="CCDC89B; TSG-9; TSG9"
                     /note="hexamer: AATAAA"
     polyA_site      1476
                     /gene="TUSC1"
                     /gene_synonym="CCDC89B; TSG-9; TSG9"
                     /note="major polyA site"
ORIGIN
        1 agcagccgcc gcccgcgacc tcctctcctc ctccgtcgtc accccggccg ccctgccagc
       61 cccgaacttg cccgcgcctg gccgcgcggc ccctcagccc acggggctgg cggcgcggtt
      121 gggatgggac cgatgtggcg catgcgtggt ggcgccacta ggcgcgggag ttgctgcggc
      181 ggggacggtg ctgcggacgg ccgagggcca ggccgctccg gccgggctcg tggtgggggc
      241 agccccagcg gcggcggcgg cggcgtgggc tggcgaggcc gcgcggacgg cgcccgacag
      301 cagctggagg agcggtttgc cgacctggcg gcgagccact tggaggccat ccgtgcgcgg
      361 gacgagtggg accggcagaa cgcgcggctg cgtcaggaga acgcccggct gcggctcgag
      421 aaccggcggc tgaagcgcga gaaccgcagc ctcttccgtc aggctttgcg gctccccggc
      481 gaaggcggca acgggacgcc cgcggaggca cgccgggtcc ctgaagaggc cagcacgaac
      541 cggagggcta gagacagcgg ccgagaggac gagccgggca gccccagggc cctgagggcc
      601 cgacttgaga agctggaagc catgtaccgc cgggccctgc tgcagctgca cctcgagcag
      661 cggggaccac gtccgagcgg ggacaaggag gagcagcctc tacaggaacc cgactccggc
      721 ctccgctccc gggactcgga gccctctggg ccctggctgt agccgaggcc gcagccggtg
      781 agaggcggag cctcgagcgg gcccctcctc ctccgttccc agctaccccc gacctcgcgc
      841 acgccctggc ccgctccctg cccgcggata ccttggacta cggtgccttc ccgcccccac
      901 cagtggacac ttccgggtgg cgcttggcca tccgcttggt ggaggtcgag tgggtgcaag
      961 ggccctcagg acctcccaca tgtacagttc ccctgcctct tgccccggct agtttccctg
     1021 gagagaggcc tagccaacaa cgaagggacg gattttaaaa cagcgagaac tgggtgccaa
     1081 gaaacacttc atattccctg aacttttctg gatgttgtgc gaacctgttg tatttttttt
     1141 tttcctgtat tttggttctg agggatgagt aatgtgtttt tagttggttg agtttatcca
     1201 ttcttcaatc ccctaaagcc ttcagctatt ctttcatatg tggccaacat tttaagtaca
     1261 gtgtttgctt ttataagtcg gtgttacttg gatgtcctat aaaataccca ctttttataa
     1321 agatgatatt tataacctag gaactcatgc ctgtcttggc tgcagtccct gtacatctaa
     1381 tatatactga tttgtttgcc cccagagaat ttttaaggta tctgcctata tcgtgatctt
     1441 ttgaaatggt aaataaatct ggtgcattaa aaatta
//
LOCUS       NM_001004127            6510 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens ALG11 alpha-1,2-mannosyltransferase (ALG11), transcript
            variant A, mRNA.
ACCESSION   NM_001004127
VERSION     NM_001004127.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6510)
  AUTHORS   Nishimura Y, Shimono N, Yoshimoto T, Kamiguchi H and Nishikawa Y.
  TITLE     Cloning and transcriptional expression of mouse mannosyltransferase
            IV/V cDNA, which is involved in the synthesis of lipid-linked
            oligosaccharides
  JOURNAL   Biosci Biotechnol Biochem 78 (3), 400-409 (2014)
   PUBMED   25036826
  REMARK    GeneRIF: Hence, we concluded that there is different transcriptional
            control mechanism between mALG11 and hALG11
REFERENCE   2  (bases 1 to 6510)
  AUTHORS   Thiel C, Rind N, Popovici D, Hoffmann GF, Hanson K, Conway RL,
            Adamski CR, Butler E, Scanlon R, Lambert M, Apeshiotis N, Thiels C,
            Matthijs G and Korner C.
  TITLE     Improved diagnostics lead to identification of three new patients
            with congenital disorder of glycosylation-Ip
  JOURNAL   Hum Mutat 33 (3), 485-487 (2012)
   PUBMED   22213132
  REMARK    GeneRIF: After identifying the congenital disorders of
            glycosylation-Ip index patient, study describe three more cases
            suffering from an ALG11 deficiency.
REFERENCE   3  (bases 1 to 6510)
  AUTHORS   Rind N, Schmeiser V, Thiel C, Absmanner B, Lubbehusen J, Hocks J,
            Apeshiotis N, Wilichowski E, Lehle L and Korner C.
  TITLE     A severe human metabolic disease caused by deficiency of the
            endoplasmatic mannosyltransferase hALG11 leads to congenital
            disorder of glycosylation-Ip
  JOURNAL   Hum Mol Genet 19 (8), 1413-1424 (2010)
   PUBMED   20080937
  REMARK    GeneRIF: Deficiency of the endoplasmatic mannosyltransferase hALG11
            leads to congenital disorder of glycosylation.
REFERENCE   4  (bases 1 to 6510)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   5  (bases 1 to 6510)
  AUTHORS   Rohozinski J, Lamb DJ and Bishop CE.
  TITLE     UTP14c is a recently acquired retrogene associated with
            spermatogenesis and fertility in man
  JOURNAL   Biol Reprod 74 (4), 644-651 (2006)
   PUBMED   16354793
REFERENCE   6  (bases 1 to 6510)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301507
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.25155.1,
            SRR1803611.170960.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000521508.2/ ENSP00000430236.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC142998.1, AL139082.18 and
            AK025456.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001004127.2.
            Summary: This gene encodes a
            GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which
            is localized to the cytosolic side of the endoplasmic reticulum
            (ER) and catalyzes the transfer of the fourth and fifth mannose
            residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and
            Man4GlcNAc2-PP-dolichol resulting in the production of
            Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with
            congenital disorder of glycosylation type Ip (CDGIP). This gene
            overlaps but is distinct from the UTP14, U3 small nucleolar
            ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the
            GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has
            been identified on chromosome 19. [provided by RefSeq, Aug 2010].
            Transcript Variant: This variant (A) represents the longer
            transcript and encodes the functional protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6510
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.3"
     gene            1..6510
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /note="ALG11 alpha-1,2-mannosyltransferase"
                     /db_xref="GeneID:440138"
                     /db_xref="HGNC:HGNC:32456"
                     /db_xref="MIM:613666"
     CDS             22..1500
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /EC_number="2.4.1.131"
                     /note="asparagine-linked glycosylation protein 11 homolog;
                     glycolipid 2-alpha-mannosyltransferase; asparagine-linked
                     glycosylation 11, alpha-1,2-mannosyltransferase homolog;
                     GDP-Man:Man(3)GlcNAc(2)-PP-dolichol
                     alpha-1,2-mannosyltransferase"
                     /codon_start=1
                     /product="GDP-Man:Man(3)GlcNAc(2)-PP-Dol
                     alpha-1,2-mannosyltransferase"
                     /protein_id="NP_001004127.2"
                     /db_xref="CCDS:CCDS31977.1"
                     /db_xref="GeneID:440138"
                     /db_xref="HGNC:HGNC:32456"
                     /db_xref="MIM:613666"
                     /translation="MAAGERSWCLCKLLRFFYSLFFPGLIVCGTLCVCLVIVLWGIRLL
                     LQRKKKLVSTSKNGKNQMVIAFFHPYCNAGGGGERVLWCALRALQKKYPEAVYVVYTGD
                     VNVNGQQILEGAFRRFNIRLIHPVQFVFLRKRYLVEDSLYPHFTLLGQSLGSIFLGWEA
                     LMQCVPDVYIDSMGYAFTLPLFKYIGGCQVGSYVHYPTISTDMLSVVKNQNIGFNNAAF
                     ITRNPFLSKVKLIYYYLFAFIYGLVGSCSDVVMVNSSWTLNHILSLWKVGNCTNIVYPP
                     CDVQTFLDIPLHEKKMTPGHLLVSVGQFRPEKNHPLQIRAFAKLLNKKMVESPPSLKLV
                     LIGGCRNKDDELRVNQLRRLSEDLGVQEYVEFKINIPFDELKNYLSEATIGLHTMWNEH
                     FGIGVVECMAAGTIILAHNSGGPKLDIVVPHEGDITGFLAESEEDYAETIAHILSMSAE
                     KRLQIRKSARASVSRFSDQEFEVTFLSSVEKLFK"
     misc_feature    79..141
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2TAA5.2);
                     transmembrane region"
     misc_feature    721..783
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2TAA5.2);
                     transmembrane region"
     misc_feature    790..792
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q2TAA5.2); glycosylation site"
     misc_feature    838..840
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q2TAA5.2); glycosylation site"
     regulatory      6469..6474
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /note="hexamer: AAGAAA"
     regulatory      6479..6484
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /note="hexamer: AATAAA"
     polyA_site      6485
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /note="major polyA site"
     polyA_site      6510
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /note="major polyA site"
ORIGIN
        1 gagttcgggg gtcggcggaa gatggcggcc ggcgaaagga gctggtgcct gtgcaagttg
       61 ttgaggtttt tttattcatt attcttccct gggctcattg tatgtggaac tttatgtgtg
      121 tgtttggtca ttgtcctttg gggaatcaga ctgctgctac agagaaagaa aaaattagtg
      181 tcaactagca aaaatgggaa aaatcaaatg gtgattgcat tttttcatcc atactgcaat
      241 gctggtggag gaggagaaag agttttatgg tgtgctttaa gagccctgca gaaaaagtat
      301 cctgaagcag tttatgttgt ttataccggc gatgttaatg tcaacggtca acagatacta
      361 gaaggtgctt tcagaagatt taacatcaga ttaattcacc cagtgcagtt tgttttttta
      421 aggaaacgct atcttgtgga agattcactg tatcctcact tcacactgct gggccaaagt
      481 ctaggatcca tttttcttgg ctgggaagct ctaatgcagt gtgttcctga tgtttacatt
      541 gattcaatgg gatacgcttt tacgcttcct ctgtttaagt atataggggg ttgccaagtt
      601 ggaagctatg ttcattatcc tactatcagc accgacatgc tctctgtagt gaagaatcaa
      661 aatattggat ttaataatgc agccttcatt accaggaatc cttttctcag caaagtaaag
      721 ctcatctact actatttatt tgcttttatt tatggacttg ttggttcttg cagtgatgta
      781 gtcatggtca attcttcttg gacactaaac catattctct cactatggaa agttgggaat
      841 tgcactaaca ttgtttatcc accttgtgat gtgcagacat ttctggacat tcccttacat
      901 gagaaaaaga tgaccccagg acatttgctg gtttctgttg gccagtttag gccggaaaag
      961 aatcatccat tgcagatcag agcctttgct aaattgctga ataagaagat ggttgagtca
     1021 cctccttcgc ttaaacttgt cctcattgga ggttgtcgta acaaagatga tgaacttagg
     1081 gtaaaccaac tgagaaggct gtctgaggat ttaggagttc aagaatatgt ggaatttaaa
     1141 ataaacattc catttgatga attaaagaat tatttgtctg aagcaacaat tggtctgcat
     1201 accatgtgga acgagcattt tgggattgga gttgtggagt gtatggcagc tggcacaatt
     1261 atccttgcac acaattcggg gggcccaaag cttgacattg tggttcctca cgaaggagat
     1321 ataactggct ttctggctga gagtgaagaa gactatgctg aaactatcgc tcacattctt
     1381 tccatgtctg cagaaaagag actccaaatc agaaaaagtg ctcgtgcatc tgtaagcaga
     1441 ttctctgatc aggaatttga agtgacattc ctatcatctg tggaaaagtt atttaagtaa
     1501 tgccatatct gtaaaattaa agatatttta tataaactgg ttaaacacct tcatatgtaa
     1561 atatttttct aaattcaatc tcatttgtca aatcatttta ctttagaaaa cagacaaaat
     1621 ttccttttag aataaaagga agtgttgaaa agaaaatgga tgactagcct tcggcttcca
     1681 ttcttggtat acatgagaga ggctggctgc tgagatgaat gtgaaccagg ttgcagagaa
     1741 tctggctttg agccaccagg aagaactagt ggatttgcca aaaaactacc ccttgagtga
     1801 aaatgaagat gagggggaca gtgatggaga gagaaagcat caaaagcttc tggaagcaat
     1861 catttccctt gatggaaaga ataggcggaa attggctgag aggtctgagg ctagtctgaa
     1921 agtgtcagag ttcagtgtca gttctgaagg atcaggagaa aagctgggcc ttgcagatct
     1981 gcttgagccc gttaaaactt catcttcttt ggccactgta aaaaagcaac tgaatagagt
     2041 caaatcaaag aaggtggtgg agttacctct taacaaagaa aaaattgaac agatccacag
     2101 agaagtagca ttcagtaaaa cctcacaggt cctctccaaa tgggacccta tcatcctgaa
     2161 gaaccagcag gcagagcagc tggtttttcc cctggggaag gagcagccag ccattgctcc
     2221 cattgaacat gcgctcagtg gctggaaggc aagaactccc ctggagcagg aaatttttaa
     2281 cctcctccat aagaacaagc agccagtgac agatccttta ctgactccca tggaaaaggc
     2341 ctctctccaa gccatgagcc tggaagaggc aaagatgcac cgagcagagc ttcagagggc
     2401 tcgggctctg cagtcctact atgaggccaa ggctcgaaaa gagaagaaaa tcaaaagtaa
     2461 aaagtatcac aaagtcgtga agaaaggaaa ggccaagaaa gccttaaaag agtttgagca
     2521 gctacagaag gttaatccaa ctgtggcact ggaagaaatg gaaaaaattg aaaatgccag
     2581 aatgatggaa agaatgagcc ttaagcacca aaacagtggg aaatgggcca agtcaaaggc
     2641 aattatggcc aaatatgacc tggaggctcg ccaagctatg caggaacagt tggccaagaa
     2701 caaagaactg acacagaaac tccaggtagc ctctgagagt gaggaagagg agggaggcac
     2761 agaagtggaa gaactccttg tccctcatgt agcgaatgaa gtgcagatga atgtggacgg
     2821 accgaatccc tggatgttca ggagctgcac cagtgacacc aaagaggctg caacacagga
     2881 ggaccctgag caagtgccag agcttgcagc tcatgaggtt tctgcaagtg aggcagaaga
     2941 aagaccagtg gcagaggaag aaattttgtt gagagaattt gaggaaaggc aatcccttag
     3001 aaaaagatct gagctcaacc aggatgctga gccagcaagc agtcaagaaa caaaagattc
     3061 tagcagccag gaggtgctgt ccgaattgag ggcactatct cagaaattga aggaaaaaca
     3121 tcagtccagg aagcaaaaag caagttcaga ggggactgtt ccccaggtcc agagagagga
     3181 acctgcccca gaagaagcgg aacccctatt gctacagagg tcagagagag tacaaactct
     3241 ggaagagcta gaagagctgg gaaaagaaga ttgttttcaa aataaggagc ttcccagacc
     3301 tgtgttagaa ggacagcagt cagagaggac cccaaataat cggcctgatg cccctaagga
     3361 gaagaaagag aaggagcaac tgatcaacct acagaacttc ctgaccacac agtctccttc
     3421 cgtgaggtct ttggcagttc ccacaataat agaggagctg gaagatgaag aggagagaga
     3481 ccaaaggcag atgataaagg aagcttttgc tggggatgat gtcatcagag atttcttgaa
     3541 agagaagagg gaagctgtgg aggcgagtaa gccaaaggac gtggacctga cactacctgg
     3601 ctggggcgag tggggtggtg tgggcctaaa gcccagtgcc aagaaaagac gccagtttct
     3661 cattaaagcc cctgagggtc ctccaagaaa agataagaat ttgccaaatg tgattatcag
     3721 tgagaagcgc aacatccacg cagcagctca tcaggtacaa gtgcttccat atccatttac
     3781 ccaccatcgg caatttgaaa ggaccatcca gacccctata ggatccacat ggaacaccca
     3841 gagggctttc caaaagctga ctactcccaa ggtcgtcacc aagccaggcc atatcattaa
     3901 gcccataaaa gcagaggatg tgggctacca gtcttcctca aggtcagacc tgcctgtcat
     3961 acagaggaat ccaaaacgaa tcaccacacg tcacaataaa gaagaaaaac tgtaggttgt
     4021 gtagctggag aagtgacagt caggggccct gattccactt cctttggtcc agttttactc
     4081 tgctacaggg tggattccaa aactggctca gcacattgca tgtagttgag ccacattttt
     4141 taaaaaaaga aaatggatga ccattaattg actagcattt tagaattgat cagacattag
     4201 aacacagaaa aattctagta catttaaatt ctaaacaata cagtggatga cccttttgaa
     4261 tatacctaat gatttcctta aaaaagaaat tttaaacaga cttgtttaat cgtgttctca
     4321 aagcatacag tcaagaggtg ggactgactg atgctttata ggtgtgtgta gggtggtaga
     4381 ggccaaggtg ctgccagcaa tcctttccat actaggtact ggtgaaaatt gtttttgttt
     4441 atgctgtcag cacatttgtg tgggtctctc attgtccctt aacagtgccg catctcagcc
     4501 tggaagtcag ctttaagtca ttcaagagaa cctcaggctg tttttctgac agtgatgata
     4561 tgatatacag atacatccac agggtatcta ttaccagcat aatgcattgt aagatggcaa
     4621 ggtggcattt tgaaagagcg ctgggcaagc agttagcaca tctgggccta ccttcagctt
     4681 cttcatttac aaacttctga ccttttgaca ctaaagctgc tcctttatct ttctgagtct
     4741 cagattcttc atctgtaatc tggagttgtt aattccagtc cttactacct tttagagttg
     4801 gaatgagatg gaaagtagat gaaactactt tgaaaattac gacagttaag ggctgggtgc
     4861 ggtgtctcac acctgtaatc ccagcacttt gggaggccga gatgggtgga tcatgaggtc
     4921 agcagttgag accagcctga acaacatggt gaaaccctgt ctgtactaaa aatacaaaaa
     4981 aattagctgg gcctggtggc aggcacctgt aatcccagct acttgggaga ctgaggcagg
     5041 agaattgctt gaaactggaa ggcagaggtt gcagtgagcc aagattgtgc cactgcactc
     5101 tagcctgggc aataagcaaa actccatctc aaaaaagaaa aaaaggaaaa agaaaattat
     5161 gagagttact taaaggtaac atcacatact aaatgtcttc tataatccta tatttattaa
     5221 tgcattacaa ctctgtagat tgttagttac taggccagta gctaggaatt ggtataaatt
     5281 taatgcacct tctatcctga ataactagca tggaaaagtg aatatatgtg tgagcagata
     5341 tggctataaa gacctatagc ttttgcactt tatgcatata taatcaatcc tttctagttc
     5401 agtgaattga ccccatccac aggctgattc atctttgtgt taaggggcaa atgaaacggt
     5461 atattatttc tttgcagtct cctctcagtc attcatcaat gtggccagct tatctactcc
     5521 caattatgtt gttgatacat ctccaagcca tctgtcatca gatcaaaaag cagcaaacag
     5581 agggtcagtc acaggatgtt ctgacacacc attgtaactt tttgttagag atgatcccat
     5641 ttagaaaaag actggtagaa attggagtga aaggaaccct acagattagc ccagttctct
     5701 cttattttca gctttacaga caagaacaat ttaaatctaa agaatttagt agattccttc
     5761 agtgtcacaa agctgtttca tgaaagaatc aagattataa cctggatatt ctgactcctg
     5821 gcccagtgct ttttcttact ttgtagctac actttgaagt aagattcaaa ctgttatcca
     5881 ctcaattgcc ttattcctga ggatgtagtg aaggaagaaa aagttttctg gaattccgta
     5941 aattatattt taagcttatt tcttcaaaat tattttcata tatcacagat atatcattgg
     6001 aagatataat ttgcatatat gttcattatc agtgttccta atttggtatt acatgtattc
     6061 tatttttttc tgaatgatag catgaaaagt gtcaaagtgg tttgtccgct agcgtctgtc
     6121 tgcagaactt tcaggatgac tattaattcc tctcagatgt catttttgag tggtccaagc
     6181 ctgctgtttt gaacccacag cagtggagat ttgtattctt atttacagtt gtgtactata
     6241 aagtgtgtgt tacataggtt ttgtgtaata attatttgta aatattattt agatttgtat
     6301 ttagacatga tttatatcta atatagatac aaagtctgtg tctaaatatt atttaaagaa
     6361 gtgatttttc attctcttgg attctttcca gtgtggtgcc ttttatatgc ctcacatagt
     6421 ctccttgttc tcctactaat attcccaagc tccatatgcc aattaaagaa gaaacaaaaa
     6481 taaaagtttg tcttgcttgt gaaacattaa
//
LOCUS       NM_001004134             954 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily AD member 1
            (OR10AD1), mRNA.
ACCESSION   NM_001004134
VERSION     NM_001004134.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 954)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 954)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310248.4/ ENSP00000308689.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AB065872.1.
            On Sep 9, 2004 this sequence version replaced XM_062553.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..954
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.11"
     gene            1..954
                     /gene="OR10AD1"
                     /gene_synonym="OR10AD1P; OR12-1"
                     /note="olfactory receptor family 10 subfamily AD member 1"
                     /db_xref="GeneID:121275"
                     /db_xref="HGNC:HGNC:14819"
     CDS             1..954
                     /gene="OR10AD1"
                     /gene_synonym="OR10AD1P; OR12-1"
                     /note="olfactory receptor, family 10, subfamily AD, member
                     1 pseudogene; olfactory receptor OR12-1"
                     /codon_start=1
                     /product="olfactory receptor 10AD1"
                     /protein_id="NP_001004134.1"
                     /db_xref="CCDS:CCDS31787.1"
                     /db_xref="GeneID:121275"
                     /db_xref="HGNC:HGNC:14819"
                     /translation="MLRNGSIVTEFILVGFQQSSTSTRALLFALFLALYSLTMAMNGLI
                     IFITSWTDPKLNSPMYFFLGHLSLLDVCFITTTIPQMLIHLVVRDHIVSFVCCMTQMYF
                     VFCVGVAECILLAFMAYDRYVAICYPLNYVPIISQKVCVRLVGTAWFFGLINGIFLEYI
                     SFREPFRRDNHIESFFCEAPIVIGLSCGDPQFSLWAIFADAIVVILSPMVLTVTSYVHI
                     LATILSKASSSGRGKTFSTCASHLTVVIFLYTSAMFSYMNPHSTHGPDKDKPFSLLYTI
                     ITPMCNPIIYSFRNKEIKEAMVRALGRTRLAQPQSV"
     misc_feature    10..12
                     /gene="OR10AD1"
                     /gene_synonym="OR10AD1P; OR12-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGE0.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR10AD1"
                     /gene_synonym="OR10AD1P; OR12-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE0.1);
                     transmembrane region"
     misc_feature    166..228
                     /gene="OR10AD1"
                     /gene_synonym="OR10AD1P; OR12-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE0.1);
                     transmembrane region"
     misc_feature    301..363
                     /gene="OR10AD1"
                     /gene_synonym="OR10AD1P; OR12-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE0.1);
                     transmembrane region"
     misc_feature    421..483
                     /gene="OR10AD1"
                     /gene_synonym="OR10AD1P; OR12-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE0.1);
                     transmembrane region"
     misc_feature    595..654
                     /gene="OR10AD1"
                     /gene_synonym="OR10AD1P; OR12-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE0.1);
                     transmembrane region"
     misc_feature    715..777
                     /gene="OR10AD1"
                     /gene_synonym="OR10AD1P; OR12-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE0.1);
                     transmembrane region"
     misc_feature    817..879
                     /gene="OR10AD1"
                     /gene_synonym="OR10AD1P; OR12-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE0.1);
                     transmembrane region"
ORIGIN
        1 atgctaagga atggcagcat agtgacggaa tttatcctcg tgggctttca gcagagctcc
       61 acttccacac gagcattgct ctttgccctc ttcttggccc tctacagcct caccatggcc
      121 atgaatggcc tcatcatctt tatcacctcc tggacagacc ccaagctcaa cagccccatg
      181 tacttcttcc tcggccatct gtctctcctg gatgtctgct tcatcaccac taccatccca
      241 cagatgttga tccacctcgt ggtcagggac cacattgtct cctttgtatg ttgcatgacc
      301 cagatgtact ttgtcttctg tgttggtgtg gccgagtgca tcctcttggc tttcatggcc
      361 tatgaccgtt atgttgctat ctgctaccca cttaactatg tcccgatcat aagccagaag
      421 gtctgtgtca ggcttgtggg aactgcctgg ttctttgggc tgatcaatgg catctttctc
      481 gagtatattt cattccgaga gcccttccgc agagacaacc acatagaaag cttcttctgt
      541 gaggccccca tagtgattgg cctctcttgt ggggaccctc agtttagtct gtgggcaatc
      601 tttgccgatg ccatcgtggt aattctcagc cccatggtgc tcactgtcac ttcctatgtg
      661 cacatcctgg ccaccatcct cagcaaagcc tcctcctcag gtcgggggaa gactttctct
      721 acttgtgcct ctcacctgac tgtggtcatc tttctctaca cttcagctat gttctcttac
      781 atgaaccccc acagcacaca tgggcctgac aaagacaaac ctttctccct cctgtacacc
      841 atcattaccc ccatgtgcaa ccccatcatt tatagtttcc gcaacaagga aattaaggag
      901 gccatggtga gggcacttgg aagaaccagg ctggcccagc cacagtctgt ctag
//
LOCUS       NM_001004135            4163 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily A member 12
            (OR2A12), mRNA.
ACCESSION   NM_001004135
VERSION     NM_001004135.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4163)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 4163)
  AUTHORS   Gilad Y and Lancet D.
  TITLE     Population differences in the human functional olfactory repertoire
  JOURNAL   Mol Biol Evol 20 (3), 307-314 (2003)
   PUBMED   12644552
REFERENCE   3  (bases 1 to 4163)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641592.1/ ENSP00000493157.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC091768.4.
            On Jul 22, 2020 this sequence version replaced NM_001004135.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..4163
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q35"
     gene            1..4163
                     /gene="OR2A12"
                     /gene_synonym="OR2A12P; OR2A16P"
                     /note="olfactory receptor family 2 subfamily A member 12"
                     /db_xref="GeneID:346525"
                     /db_xref="HGNC:HGNC:15082"
     misc_feature    270..272
                     /gene="OR2A12"
                     /gene_synonym="OR2A12P; OR2A16P"
                     /note="upstream in-frame stop codon"
     CDS             318..1250
                     /gene="OR2A12"
                     /gene_synonym="OR2A12P; OR2A16P"
                     /note="olfactory receptor, family 2, subfamily A, member 12
                     pseudogene; olfactory receptor, family 2, subfamily A,
                     member 16 pseudogene; olfactory receptor OR7-10"
                     /codon_start=1
                     /product="olfactory receptor 2A12"
                     /protein_id="NP_001004135.1"
                     /db_xref="CCDS:CCDS43670.1"
                     /db_xref="GeneID:346525"
                     /db_xref="HGNC:HGNC:15082"
                     /translation="MESNQTWITEVILLGFQVDPALELFLFGFFLLFYSLTLMGNGIIL
                     GLIYLDSRLHTPMYVFLSHLAIVDMSYASSTVPKMLANLVMHKKVISFAPCILQTFLYL
                     AFAITECLILVMMCYDRYVAICHPLQYTLIMNWRVCTVLASTCWIFSFLLALVHITLIL
                     RLPFCGPQKINHFFCQIMSVFKLACADTRLNQVVLFAGSAFILVGPLCLVLVSYLHILV
                     AILRIQSGEGRRKAFSTCSSHLCVVGLFFGSAIVMYMAPKSSHSQERRKILSLFYSLFN
                     PILNPLIYSLRNAEVKGALKRVLWKQRSM"
     misc_feature    327..329
                     /gene="OR2A12"
                     /gene_synonym="OR2A12P; OR2A16P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGT7.1); glycosylation site"
     misc_feature    390..461
                     /gene="OR2A12"
                     /gene_synonym="OR2A12P; OR2A16P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT7.1);
                     transmembrane region"
     misc_feature    486..551
                     /gene="OR2A12"
                     /gene_synonym="OR2A12P; OR2A16P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT7.1);
                     transmembrane region"
     misc_feature    615..674
                     /gene="OR2A12"
                     /gene_synonym="OR2A12P; OR2A16P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT7.1);
                     transmembrane region"
     misc_feature    732..788
                     /gene="OR2A12"
                     /gene_synonym="OR2A12P; OR2A16P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT7.1);
                     transmembrane region"
     misc_feature    900..971
                     /gene="OR2A12"
                     /gene_synonym="OR2A12P; OR2A16P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT7.1);
                     transmembrane region"
     misc_feature    1023..1091
                     /gene="OR2A12"
                     /gene_synonym="OR2A12P; OR2A16P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT7.1);
                     transmembrane region"
     misc_feature    1131..1190
                     /gene="OR2A12"
                     /gene_synonym="OR2A12P; OR2A16P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT7.1);
                     transmembrane region"
ORIGIN
        1 gcatgccaag attctcctgg gtaggaacaa ccttgccatt cttcctgagt tctcacttct
       61 ttgcataagc aggaacacaa gtgcacatgc gtgcacacac acacaaacag aggcatacac
      121 acctgcccca cacctacaca cgctgacact catacgaata acaaagctgg aggatagaga
      181 ggagagggga aggtgttaca ctgctcagta gggaagacat aggatggtgg gaagacgctt
      241 catatgttgt tctctggact ccacagctgt gaaatttctg tcttaagtac atcacaagat
      301 ttttctgtca cgagaacatg gaaagcaatc agacctggat cacagaagtc atcctgttgg
      361 gattccaggt ggacccagct ctggagttgt tcctctttgg gtttttcttg ctattctaca
      421 gcttaaccct gatgggaaat gggattatcc tggggctcat ctacttggac tctagactgc
      481 acacacccat gtatgtcttc ctgtcacacc tggccattgt ggacatgtcc tatgcctcga
      541 gtactgtccc taagatgcta gcaaatcttg tgatgcacaa aaaagtcatc tcctttgctc
      601 cttgcatact tcagactttt ttgtatttgg cgtttgctat tacagagtgt ctgattttgg
      661 tgatgatgtg ctatgatcgg tatgtggcaa tctgtcaccc cttgcaatac accctcatta
      721 tgaactggag agtgtgcact gtcctggcct caacttgctg gatatttagc tttctcttgg
      781 ctctggtcca tattactctt attctgaggc tgcctttttg tggcccacaa aagatcaacc
      841 actttttctg tcaaatcatg tccgtattca aattggcctg tgctgacact aggctcaacc
      901 aggtggtcct atttgcgggt tctgcgttca tcttagtggg gccgctctgc ctggtgctgg
      961 tctcctactt gcacatcctg gtggccatct tgaggatcca gtctggggag ggccgcagaa
     1021 aggccttctc tacctgctcc tcccacctct gcgtggtggg gcttttcttt ggcagcgcca
     1081 ttgtcatgta catggccccc aagtcaagcc attctcaaga acggaggaag atcctttccc
     1141 tgttttacag ccttttcaac ccgatcctga accccctcat ctacagcctt aggaatgcag
     1201 aggtgaaagg ggctctaaag agagtccttt ggaaacagag atcaatgtga agaatcattt
     1261 gagatatcct gagtgtgtaa gcatggttct catgaccctg ggtcctgaaa tttccttttt
     1321 aattctttaa tttaccacac ccaatactgt ttatctttag acttcttata aaaagagaaa
     1381 ctggcctggc gtggtggctg aagcctgtaa tcccaacact ttgggaggct gacctgggcg
     1441 gattacctga ggtcaggagt tcgagaccag cctaaccaac atggcgaaac actgtctcta
     1501 ttaaaaatac aaaaattagc cgggcgtgct ggtgggcgcc tgtaatccca gctctacttg
     1561 ggaggctgag gcaggagaat cgtttgaacc caggaggcgg aggttgcact gagccgagat
     1621 tgtaccactg cactccagcc tgggcgacag agcaagactc cctctcaaaa ataaataaat
     1681 aaataaataa agagagagaa actaattact tttactattt aaggcattga taccaaacct
     1741 gagataaact tatgaaacag aaaatcacaa tctaatccta ctcatgaaca tagatgcaaa
     1801 cctcttaaag aaaatattaa tgaaacaagt ccatcagaat gaagtaagga tgtattataa
     1861 tgaaactatg tataccctta aaatgcagca ataatttaac attaaaacaa acaacaaaaa
     1921 taacttcccc acattaacaa attaaagaat acatttcata tgaacatctc agtagatcca
     1981 agaaagtgtt tgacaagatt taagatcaat tctttataag ctaatatcgc agtaagactt
     2041 tctaaacaga atctaccaaa aacaaaacaa aaataaaaac aaagcagacg tcatggttaa
     2101 tggtgaaatg ttagcatctg tccttttcgg gtaaagaatc agacacaaaa aaaatcactt
     2161 gtttttcttg atttcacttt ttactagaga tcctaaccaa tacagttaga caaaaagaac
     2221 aaatacaccc atgcatgcgc acacacgcac acacgcacac acacacacac tcacacgtgc
     2281 acacacattt gagaaagaag aaacaaactg taattacata caaatgacat tactgtatat
     2341 gtaggaaatt caaaagaatt ataagaaatt ttaaagtagc ttgatacaaa atcaatataa
     2401 aaatatatta tatttttaaa gcagtaacaa acaattaaaa tgaaacttga aaaaacgcta
     2461 ccatacacaa caggatttaa ttctcaaatg cttaggaata attataacaa agattataca
     2521 aaagctctaa agagacaatt aaaaatttat tgagagacta tggtaaataa atagatacac
     2581 aatgtgtggt atgccaagtt cttggactga aaaacataat attacaaaga ttcaatctcc
     2641 ttaaattgat tattagattt aatacaatcc caatcaatat cgcagcaggg tgtgtggatg
     2701 tgtgcagaac tcaacaaact aatcttaaaa ttcaagggac caaggctagc tcaaactcta
     2761 ttaaaagaga aagagtacaa cgtgggagga tttgatcctt cagatatcaa aacacactat
     2821 atagtgctaa taaacagaac agtgtggtat ttatacacag atagaccaaa aaacaaacag
     2881 aatagaaaga aaattagtgt atatttgctt ttattagcac ttgctatatt agaggtgtgg
     2941 catggcatat cactggggaa tgaaaaagct ttgaagtaaa tggtgttggg acaaccaagt
     3001 ctttataaag atattcaaat catgcagaaa attcaacttc tggtgtattc aagatttaag
     3061 tgtcaaaggc agaactctaa agcttttaga agatatacaa gagaaggatt ttttaaacaa
     3121 tacacataat tgctattgtg aaataatatc tgatattata aaatctttaa gctgcattaa
     3181 ataaaaatat tagtgtatgt gactgggttg aaattaagaa cttatgttaa tcaaaacagg
     3241 gcataaaaag tgaaaggaca agccacaaaa tcttctggaa gactttctga tttatcagct
     3301 ctcaagcagt acatccccaa agaccagcat atttcagagt ctcatgcatt gtcttgacta
     3361 ggtgactttc aatcatatct cttcagtctg tctttttatg gcattattaa gtacttgaag
     3421 tttttccctt tatatatttt tttcacatgt gtgttgtcag tttacaatca gtaatataca
     3481 agatcgtcgt acacatcaat tttgtcttgt catagctgtg tctctagtat ctagagcaga
     3541 gctaggtaca gagaagattc tcaacaatta tctgttgaca gacgaccaat aggtatcccc
     3601 aggaaagtgt aagcctatcc acattcttcc tgaaaccaag aagcaaccaa gttaggggga
     3661 gagagatgca tttttatgtt ctatttatta ataatttcta ttttgcacat gagaagatcg
     3721 aggaacacag aggttgagta acttaccctg agtcattgag ttagcataat caatggaaaa
     3781 tatagagttt aaaaaaatag gttctctggc tccagagctg gtattctttt attgttaaac
     3841 aatagaaatt tatgtccaag atcaggtgcc aagcatcgtc gagctctagt ggggactttc
     3901 ttctggcttt cagagagtgt cttcccactg tgtctacaca tggcagagag agagagagcc
     3961 catattctca atacaatact aactctatgt acaactgtag cttacaccaa tgacccattg
     4021 attcaagaca aaagataaac atatctccct tctaccacca ggaaggaaag ttatcaggat
     4081 cattgaagga ggactttctt tctctctttc ttcctttctt tcttctttct ttccttcctt
     4141 ccttcctttc tctttctctt cct
//
LOCUS       NM_001004136            3405 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily T member 2
            (OR2T2), mRNA.
ACCESSION   NM_001004136
VERSION     NM_001004136.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3405)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3405)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 3405)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000641925.2/ ENSP00000492947.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC138089.2.
            On Aug 4, 2020 this sequence version replaced NM_001004136.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3405
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..3405
                     /gene="OR2T2"
                     /gene_synonym="OR1-43; OR2T2P"
                     /note="olfactory receptor family 2 subfamily T member 2"
                     /db_xref="GeneID:401992"
                     /db_xref="HGNC:HGNC:14725"
     misc_feature    241..243
                     /gene="OR2T2"
                     /gene_synonym="OR1-43; OR2T2P"
                     /note="upstream in-frame stop codon"
     misc_feature    385..387
                     /gene="OR2T2"
                     /gene_synonym="OR1-43; OR2T2P"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MNCSKLFSLVEEPVTSLGDLFNFRPRSLSWT"
     CDS             478..1452
                     /gene="OR2T2"
                     /gene_synonym="OR1-43; OR2T2P"
                     /note="olfactory receptor, family 2, subfamily T, member 2
                     pseudogene; olfactory receptor OR1-43"
                     /codon_start=1
                     /product="olfactory receptor 2T2"
                     /protein_id="NP_001004136.1"
                     /db_xref="CCDS:CCDS31116.1"
                     /db_xref="GeneID:401992"
                     /db_xref="HGNC:HGNC:14725"
                     /translation="MGMEGLLQNSTNFVLTGLITHPAFPGLLFAIVFSIFVVAITANLV
                     MILLIHMDSRLHTPMYFLLSQLSIMDTIYICITVPKMLQDLLSKDKTISFLGCAVQIFL
                     YLTLIGGEFFLLGLMAYDRYVAVCNPLRYPLLMNRRVCLFMVVGSWVGGSLDGFMLTPV
                     TMSFPFCRSREINHFFCEIPAVLKLSCTDTSLYETLMYACCVLMLLIPLSVISVSYTHI
                     LLTVHRMNSAEGRRKAFATCSSHIMVVSVFYGAAFYTNVLPHSYHTPEKDKVVSAFYTI
                     LTPMLNPLIYSLRNKDVAAALRKVLGRCGSSQSIRVATVIRKG"
     misc_feature    502..504
                     /gene="OR2T2"
                     /gene_synonym="OR1-43; OR2T2P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6IF00.1); glycosylation site"
     misc_feature    556..627
                     /gene="OR2T2"
                     /gene_synonym="OR1-43; OR2T2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF00.1);
                     transmembrane region"
     misc_feature    652..717
                     /gene="OR2T2"
                     /gene_synonym="OR1-43; OR2T2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF00.1);
                     transmembrane region"
     misc_feature    781..840
                     /gene="OR2T2"
                     /gene_synonym="OR1-43; OR2T2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF00.1);
                     transmembrane region"
     misc_feature    898..954
                     /gene="OR2T2"
                     /gene_synonym="OR1-43; OR2T2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF00.1);
                     transmembrane region"
     misc_feature    1066..1137
                     /gene="OR2T2"
                     /gene_synonym="OR1-43; OR2T2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF00.1);
                     transmembrane region"
     misc_feature    1189..1257
                     /gene="OR2T2"
                     /gene_synonym="OR1-43; OR2T2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF00.1);
                     transmembrane region"
     misc_feature    1297..1356
                     /gene="OR2T2"
                     /gene_synonym="OR1-43; OR2T2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF00.1);
                     transmembrane region"
ORIGIN
        1 gctttagaaa gacttggacc cagcttctct gagcgttagc agggtggact ggatgggcca
       61 tatgccagat cctttgattt ctatttgcca ccacacgaac tgacactgct gcccagaagc
      121 attcccctgc acatccacat cacagccctc ctgctggcag cttggaattt agacctttta
      181 ctctcaatgc tccaggaaac cagatgtact tctttctttc ttgtccattg gtgatatcct
      241 tgacaatgta gtttagcttt acaggtacgt tgtgtcaagt ggagaagatc agttctggtt
      301 agcagcttta ttgccacaga aaggacactg gcagatactt ctcatagctc tagtcatgct
      361 gaattcccgg aaaggggtgt cagaatgaat tgctctaagc tcttctccct ggtagaagaa
      421 cctgtgactt ctcttggaga tctcttcaat tttcgcccaa ggagcttgtc atggaccatg
      481 ggcatggagg gtcttctcca gaactccact aacttcgtcc tcacaggcct catcacccat
      541 cctgccttcc ccgggcttct ctttgcaata gtcttctcca tctttgtggt ggctataaca
      601 gccaacttgg tcatgattct gctcatccac atggactccc gcctccacac acccatgtac
      661 ttcttgctca gccagctctc catcatggat accatctaca tctgtatcac tgtccccaag
      721 atgctccagg acctcctgtc caaggacaag accatttcct tcctgggctg tgcagttcag
      781 atcttcctct acctgaccct gattggaggg gaattcttcc tgctgggtct catggcctat
      841 gaccgctatg tggctgtgtg caaccctcta cggtaccctc tcctcatgaa ccgcagggtt
      901 tgcttattca tggtggtcgg ctcctgggtt ggtggttcct tggatgggtt catgctgact
      961 cctgtcacta tgagtttccc cttctgtaga tcccgagaga tcaatcactt tttctgtgag
     1021 atcccagccg tgctgaagtt gtcttgcaca gacacgtcac tctatgagac cctgatgtat
     1081 gcctgctgcg tgctgatgct gcttatccct ctatctgtca tctctgtctc ctacacgcac
     1141 atcctcctga ctgtccacag gatgaactct gctgagggcc ggcgcaaagc ctttgctacg
     1201 tgttcctccc acattatggt ggtgagcgtt ttctacgggg cagccttcta caccaacgtg
     1261 ctgccccact cctaccacac tccagagaaa gataaagtgg tgtctgcctt ctacaccatc
     1321 ctcaccccca tgctcaaccc actcatctac agcttgagga ataaagatgt ggctgcagct
     1381 ctgaggaaag tactagggag atgtggttcc tcccagagca tcagggtggc gactgtgatc
     1441 aggaagggct agcagggact cccacagcat cagagtggtg actgtgatcg ggaaggatta
     1501 gcggggactc ccagagcatc aggggtggtg actgatcagg aaggactagc aaggactagc
     1561 gcaaacatct gcggtgctgc ggccaataac gcagctatta cagaaaatat ggtattggtt
     1621 ctgaagaatg ttcagtgtca ctttcagcaa ttcaaaatta acaggcaaaa tcatcctgtt
     1681 gcaaggatta cttaggaaca gtagcgaagt tggtgagcat ctccgcatta gtcaactttg
     1741 ttcaactgga ttcacaaaca tttccagagg gcattctcag tcaagtagcc ctacaaacca
     1801 ttcatggcac gccaagcagc tcttggaagt gcccatgtta acatgtgacc atgagtcctt
     1861 cctgtctgta ttgctaacgt gtgatcatga gtcctgcctg cctgtattgc tgacgtgtga
     1921 tcatgagtcc tgcctgtctg tattgctaac gtgtgatgag tccttctgtg tctgtattgc
     1981 taacgtgtga tcgtgagtcc ttcctgtcta tattgctaat gtgtgaccat gagtcctgcc
     2041 tgtctgtatt gctaacgtgt gaccatgagt cctgcctgtc tgtattgcta acgtgtgatc
     2101 atgggtcctg cctgtctgta ttgctaacgt gtgatcatgg gtcctgcctg tctgtattgc
     2161 taacacgtga ttgagtcctg cctgtctcta ttgttaacct gtgatcatga gtcctgcctg
     2221 tctgtctgta ttgctgacca acttttgaat ggaaattgga aggagcattt gccacctcct
     2281 tgatgactta atttcaaaca ttcaatacaa gtaaaatatt ttctagtgct aaatgtgtag
     2341 caattttatt agaaaacatt taggaaggtg atactatttt tggttccatg ttcttagtta
     2401 cattttatga atgttatcac ttacctctga aattaaatac ttgccctgcc tttattcaca
     2461 tggagtccaa tatattcctg gaaatattga ttcattgatt gaaaattgac tctgccatta
     2521 agattgttac atggccaaaa acctacaaaa ctgccattta tgctcaaatt gttaatagat
     2581 aaatgtagaa tgaataaacc aagacatttt attagctaac ttagttcccg tggaataagt
     2641 tgctcaattt tcttattctc aacatcttca ttgatatgct gaagacaagt atttttgtaa
     2701 ttagttggag ttaggtgtgg tgctttgata gatgtgtaac tttggtggaa tactaactaa
     2761 gcaaagacta cactgacccc accattcatg taactttagt ttctcctgtg tgtaaggtcc
     2821 tgaaatatga gacataaaaa atattgacgg acctggtgtt tattttcttt gttgatacga
     2881 ggcttagaaa acattggaca gagcggttac atagttgaca aagactaagc aaaggttact
     2941 cagccttatg ttgttctagt gtcaacacag atagaaggaa aaatgtttcc tccattgttg
     3001 ctgacgtaga taaagaatat tcccttcaat atgctaaccc ctaggtggct tttcattcag
     3061 aaggttccta ataatttgat ctttaccctg aaatcaaaca catggaaaag agatggaaga
     3121 atgtcctgga gggattaagt gaagaaacag accaggattc atttatgaaa tatcctcggt
     3181 gttatttcaa ttcagctcca ttcacatttt attcttttgt gtctctgcac taatgccctc
     3241 catattctcc attctcctgc cttagctagc accttctcga tcttccctct acaaaactcc
     3301 ttcagttcac attgcatttg tgctctatcc tgggatatgt gttttctttc ccatttcctc
     3361 agttgctatg tattaaaaat taggactttt attcttatgt ttcca
//
LOCUS       NM_001004137             954 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily M member 1
            (OR52M1), mRNA.
ACCESSION   NM_001004137
VERSION     NM_001004137.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 954)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   2  (bases 1 to 954)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 954)
  AUTHORS   Vanti WB, Nguyen T, Cheng R, Lynch KR, George SR and O'Dowd BF.
  TITLE     Novel human G-protein-coupled receptors
  JOURNAL   Biochem Biophys Res Commun 305 (1), 67-71 (2003)
   PUBMED   12732197
  REMARK    GeneRIF: This publication uses 'GPR135' as a name for this gene.
REFERENCE   4  (bases 1 to 954)
  AUTHORS   Gilad Y and Lancet D.
  TITLE     Population differences in the human functional olfactory repertoire
  JOURNAL   Mol Biol Evol 20 (3), 307-314 (2003)
   PUBMED   12644552
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360213.1/ ENSP00000353343.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090719.8.
            On Sep 9, 2004 this sequence version replaced XM_061674.6.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..954
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..954
                     /gene="OR52M1"
                     /gene_synonym="OR11-11; OR52M1P; OR52M3P"
                     /note="olfactory receptor family 52 subfamily M member 1"
                     /db_xref="GeneID:119772"
                     /db_xref="HGNC:HGNC:15225"
     CDS             1..954
                     /gene="OR52M1"
                     /gene_synonym="OR11-11; OR52M1P; OR52M3P"
                     /note="olfactory receptor, family 52, subfamily M, member 1
                     pseudogene; olfactory receptor, family 52, subfamily M,
                     member 3 pseudogene; olfactory receptor OR11-11"
                     /codon_start=1
                     /product="olfactory receptor 52M1"
                     /protein_id="NP_001004137.1"
                     /db_xref="CCDS:CCDS31353.1"
                     /db_xref="GeneID:119772"
                     /db_xref="HGNC:HGNC:15225"
                     /translation="MLTFHNVCSVPSSFWLTGIPGLESLHVWLSIPFGSMYLVAVVGNV
                     TILAVVKIERSLHQPMYFFLCMLAAIDLVLSTSTIPKLLGIFWFGACDIGLDACLGQMF
                     LIHCFATVESGIFLAMAFDRYVAICNPLRHSMVLTYTVVGRLGLVSLLRGVLYIGPLPL
                     MIRLRLPLYKTHVISHSYCEHMAVVALTCGDSRVNNVYGLSIGFLVLILDSVAIAASYV
                     MIFRAVMGLATPEARLKTLGTCASHLCAILIFYVPIAVSSLIHRFGQCVPPPVHTLLAN
                     FYLLIPPILNPIVYAVRTKQIRESLLQIPRIEMKIR"
     misc_feature    82..144
                     /gene="OR52M1"
                     /gene_synonym="OR11-11; OR52M1P; OR52M3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK5.1);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR52M1"
                     /gene_synonym="OR11-11; OR52M1P; OR52M3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK5.1);
                     transmembrane region"
     misc_feature    304..366
                     /gene="OR52M1"
                     /gene_synonym="OR11-11; OR52M1P; OR52M3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK5.1);
                     transmembrane region"
     misc_feature    424..486
                     /gene="OR52M1"
                     /gene_synonym="OR11-11; OR52M1P; OR52M3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK5.1);
                     transmembrane region"
     misc_feature    598..660
                     /gene="OR52M1"
                     /gene_synonym="OR11-11; OR52M1P; OR52M3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK5.1);
                     transmembrane region"
     misc_feature    721..783
                     /gene="OR52M1"
                     /gene_synonym="OR11-11; OR52M1P; OR52M3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK5.1);
                     transmembrane region"
     misc_feature    829..891
                     /gene="OR52M1"
                     /gene_synonym="OR11-11; OR52M1P; OR52M3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK5.1);
                     transmembrane region"
ORIGIN
        1 atgctcactt ttcataatgt ctgctcagta cccagctcct tctggctcac tggcatccca
       61 gggctggagt ccctacacgt ctggctctcc atcccctttg gctccatgta cctggtggct
      121 gtggtgggga atgtgaccat cctggctgtg gtaaagatag aacgcagcct gcaccagccc
      181 atgtactttt tcttgtgcat gttggctgcc attgacctgg ttctgtctac ttccactata
      241 cccaaacttc tgggaatctt ctggttcggt gcttgtgaca ttggcctgga cgcctgcttg
      301 ggccaaatgt tccttatcca ctgctttgcc actgttgagt caggcatctt ccttgccatg
      361 gcttttgatc gctacgtggc catctgcaac ccactacgtc atagcatggt gctcacttat
      421 acagtggtgg gtcgtttggg gcttgtttct ctcctccggg gtgttctcta cattggacct
      481 ctgcctctga tgatccgcct gcggctgccc ctttataaaa cccatgttat ctcccactcc
      541 tactgtgagc acatggctgt agttgccttg acatgtggcg acagcagggt caataatgtc
      601 tatgggctga gcatcggctt tctggtgttg atcctggact cagtggctat tgctgcatcc
      661 tatgtgatga ttttcagggc cgtgatgggg ttagccactc ctgaggctag gcttaaaacc
      721 ctggggacat gcgcttctca cctctgtgcc atcctgatct tttatgttcc cattgctgtt
      781 tcttccctga ttcaccgatt tggtcagtgt gtgcctcctc cagtccacac tctgctggcc
      841 aacttctatc tcctcattcc tccaatcctc aatcccattg tctatgctgt tcgcaccaag
      901 cagatccgag agagccttct ccaaatacca aggatagaaa tgaagattag atga
//
LOCUS       NM_001004297            2082 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 13 subfamily A member 1
            (OR13A1), mRNA.
ACCESSION   NM_001004297
VERSION     NM_001004297.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2082)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage
            AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G,
            Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T,
            Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S,
            Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T,
            Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N,
            Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall
            M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL,
            Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm
            L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   2  (bases 1 to 2082)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK131555.1, DB053156.1 [ECO:0000332]
            RNAseq introns :: partial sample support SAMEA2155751 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000553795.6/ ENSP00000451950.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK131555.1 and AL512324.14.
            On May 17, 2019 this sequence version replaced NM_001004297.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..2082
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.21"
     gene            1..2082
                     /gene="OR13A1"
                     /note="olfactory receptor family 13 subfamily A member 1"
                     /db_xref="GeneID:79290"
                     /db_xref="HGNC:HGNC:14772"
     misc_feature    301..303
                     /gene="OR13A1"
                     /note="upstream in-frame stop codon"
     CDS             310..1296
                     /gene="OR13A1"
                     /note="seven transmembrane helix receptor; olfactory
                     receptor OR10-3"
                     /codon_start=1
                     /product="olfactory receptor 13A1"
                     /protein_id="NP_001004297.2"
                     /db_xref="CCDS:CCDS31188.1"
                     /db_xref="GeneID:79290"
                     /db_xref="HGNC:HGNC:14772"
                     /translation="MKLWMESHLIVPETRPSPRMMSNQTLVTEFILQGFSEHPEYRVFL
                     FSCFLFLYSGALTGNVLITLAITFNPGLHAPMYFFLLNLATMDIICTSSIMPKALASLV
                     SEESSISYGGCMAQLYFLTWAASSELLLLTVMAYDRYAAICHPLHYSSMMSKVFCSGLA
                     TAVWLLCAVNTAIHTGLMLRLDFCGPNVIIHFFCEVPPLLLLSCSSTYVNGVMIVLADA
                     FYGIVNFLMTIASYGFIVSSILKVKTAWGRQKAFSTCSSHLTVVCMYYTAVFYAYISPV
                     SGYSAGKSKLAGLLYTVLSPTLNPLIYTLRNKEVKAALRKLFPFFRN"
     misc_feature    376..378
                     /gene="OR13A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGR1.2); glycosylation site"
     misc_feature    439..501
                     /gene="OR13A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR1.2);
                     transmembrane region"
     misc_feature    526..588
                     /gene="OR13A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR1.2);
                     transmembrane region"
     misc_feature    661..723
                     /gene="OR13A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR1.2);
                     transmembrane region"
     misc_feature    781..843
                     /gene="OR13A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR1.2);
                     transmembrane region"
     misc_feature    955..1014
                     /gene="OR13A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR1.2);
                     transmembrane region"
     misc_feature    1075..1137
                     /gene="OR13A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR1.2);
                     transmembrane region"
     misc_feature    1177..1239
                     /gene="OR13A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR1.2);
                     transmembrane region"
     regulatory      2040..2045
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR13A1"
                     /note="hexamer: AATAAA"
     polyA_site      2082
                     /gene="OR13A1"
                     /note="major polyA site"
ORIGIN
        1 actatattga atagaagcga agagacagag tatacttgtc ttgttcctaa tccagaagaa
       61 aagtttgaat cttttaccat tgagtaagct tgagtgccca agggtttgat aaatgtggaa
      121 aataaccgct gttcgaatat cctgttggcc tgctgaagaa atgactggct gaggctgtaa
      181 agaaatcttg tggtcattct catggaaaga ggattggagc cccgattctt tgatctcatt
      241 attgaccagt tgattgagaa gactgtcctc ctgtccccac ccaatcacaa taagtggctc
      301 tgaaatcaca tgaagctgtg gatggagagt cacctgatag tcccagaaac ccgtcccagc
      361 ccaaggatga tgagtaacca gacgttggta accgagttca tcctgcaggg cttttcggag
      421 cacccagaat accgggtgtt cttattcagc tgtttcctct tcctctactc tggggccctc
      481 acaggtaatg tcctcatcac cttggccatc acgttcaacc ctgggctcca cgctcctatg
      541 tactttttct tactcaactt ggctactatg gacattatct gcacctcttc catcatgccc
      601 aaggcgctgg ccagtctggt gtcggaagag agctccatct cctacggggg ctgcatggcc
      661 cagctctatt tcctcacgtg ggctgcatcc tcagagctgc tgctcctcac ggtcatggcc
      721 tatgaccggt acgcagccat ctgccacccg ctgcattaca gcagcatgat gagcaaggtg
      781 ttctgcagcg ggctggccac agccgtgtgg ctgctctgcg ccgtcaacac ggccatccac
      841 acggggctga tgctgcgctt ggatttctgt ggccccaatg tcattatcca tttcttctgc
      901 gaggtccctc ccctgctgct tctctcctgc agctccacct acgtcaacgg tgtcatgatt
      961 gtcctggcgg atgctttcta cggcatagtg aacttcctga tgaccatcgc gtcctatggc
     1021 ttcatcgtct ccagcatcct gaaggtgaag actgcctggg ggaggcagaa agccttctcc
     1081 acctgctctt cccacctcac cgtggtgtgc atgtattaca ccgctgtctt ctacgcctac
     1141 ataagcccgg tctctggcta cagcgcaggg aagagcaagt tggctggcct gctgtacact
     1201 gtgctgagtc ctaccctcaa ccccctcatc tatactttga gaaacaagga ggtcaaagca
     1261 gccctcagga agcttttccc tttcttcaga aattaacttg tgtcttctga agtttttgtc
     1321 cttggagact gcagttttag tggagtctga tgagcaagtt tctggactgg gaggtaaata
     1381 gacttgtttt ttctaaccca gcagaacctg tgcatggatg agctgggagt gctggttccc
     1441 tgagacttgg tgatgggggg attgcggtag gtgtgaccca ccagcctctg agacaccaga
     1501 tctcttggtc tgactccaag gtggtgtcag tgctgagttg gcagagaaac acagggccta
     1561 ggaggagaaa agtgttcctt gtgttttcaa ctcatagcca catcaaacat tttccttttg
     1621 tatgtacaac actcagggtg taaattctaa aatcacacct agaattcagc tgtgtgggtc
     1681 taaaaagtta ggcagaattg tggaccccac agcccctgaa gggttgtcag actgaagctt
     1741 tgttttaagg tgaccactgg cctctaggaa accttctacc cccattatct tacctcaact
     1801 gtttcctctg gagccacttg gacttcaaaa atagtttgat tttaatgcaa actgttgttt
     1861 ctgcttttgt cttttcttct tactaacact tcagattctg agtatctgac ctacctaatt
     1921 ggcctggagc gaggacagct gccatgagtc agctctaata agttaaacgg cattgtagta
     1981 aggcattgct atccttccat tgtttcagat aaaactgggt gaacgaatcc tctgtgtcta
     2041 ataaagacag gtcttgtgct tgtgctccat gctattacaa aa
//
LOCUS       NM_001004301            6153 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 813 (ZNF813), mRNA.
ACCESSION   NM_001004301
VERSION     NM_001004301.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6153)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1512369.1,
            SRR1803613.239872.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396403.9/ ENSP00000379684.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022137.6, DB066632.1, DB235327.1 and AK131422.1.
            On May 17, 2019 this sequence version replaced NM_001004301.3.
FEATURES             Location/Qualifiers
     source          1..6153
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..6153
                     /gene="ZNF813"
                     /note="zinc finger protein 813"
                     /db_xref="GeneID:126017"
                     /db_xref="HGNC:HGNC:33257"
     misc_feature    68..70
                     /gene="ZNF813"
                     /note="upstream in-frame stop codon"
     CDS             131..1984
                     /gene="ZNF813"
                     /codon_start=1
                     /product="zinc finger protein 813"
                     /protein_id="NP_001004301.2"
                     /db_xref="CCDS:CCDS46172.1"
                     /db_xref="GeneID:126017"
                     /db_xref="HGNC:HGNC:33257"
                     /translation="MALPQGLLTFRDVAIEFSQEEWKCLDPAQRTLYRDVMLENYRNLV
                     SLDISSKCMMKEFSSTAQGNREVIHTGTLQRHESHHTGDFRFQEIDKDIHNLEFQWQED
                     ERNSHEAPMTEIKKLTGSADRYDQRHAGNKPIKDQLGSSFHSHLPELHMFQTQGKIGNQ
                     VEKSINDASSISTSQRISCRPKTHISNNYGNNFRNSSLLTQKQEVHMREKSFQCNESGK
                     AFNYSSLLRKHQIIHLGEKQYKCDVCGKVFNRKRNLVCHRRCHTGEKPYRCNECGKTFS
                     QTYSLTCHRRLHTGEKPYKCEECDKAFSFKSNLKRHRRIHAGEKPYKCNECGKTFSQTS
                     SLTCHRRLHTGEKPFKCNECGKTFSRKSSLTCHHRLHTGEKPYKCNECGKTFSQELTLK
                     CHRRLHTGEKPYKCNECGKVFNKKANLARHHRLHSGEKPYKCTECVKTFSRNSALVIHK
                     AIHIGEKRYKCNECGKTFSRISALVIHTAIHTGEKPYKCNECGKGFNRKTHLACHHRLH
                     TGEKPYKCNECGKVFNRKTHLAHHHRLHTGDKPYKCNECGKVFNQKAHLARHHRLHTGE
                     KPYKCNECGKVFNQKANLARHHRLHTGEKPYKFNECGKAFN"
     regulatory      6131..6136
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF813"
                     /note="hexamer: AATAAA"
     polyA_site      6153
                     /gene="ZNF813"
                     /note="major polyA site"
ORIGIN
        1 gcagattcgc gaaaacccgg aagcggatcg cgtggagtga cggtcccacg gcagcgcgat
       61 tgacttctaa agactcttgg tatgtgagga agaaacctgg aagaggaaga ggaaagcaaa
      121 ggagtcaggg atggctcttc ctcagggtct attgacattc agggatgtgg ccatagaatt
      181 ctctcaggag gagtggaaat gcctggaccc tgctcagagg actctataca gggacgtgat
      241 gctggagaat tataggaacc tggtctccct ggatatctct tccaaatgca tgatgaagga
      301 gttctcatca acagcacaag gcaatagaga agtgatccac acagggacat tgcaaagaca
      361 tgaaagtcat cacactggag actttcgctt tcaggaaatt gataaagata ttcataactt
      421 agagtttcag tggcaagaag atgaaagaaa tagccatgaa gcacccatga cagaaatcaa
      481 aaagttgact ggtagtgcag accgatatga tcaaaggcat gctggaaaca agcctattaa
      541 agatcagctt ggatcaagct ttcattcgca tctgcctgaa ctccacatgt ttcagaccca
      601 agggaaaatt ggtaatcaag tggagaagtc tatcaacgat gcttcctcaa tttcaacatc
      661 ccaaagaatt tcttgtaggc ccaaaaccca tatttctaat aactatggga ataatttccg
      721 gaattcttcg ttactcacac aaaaacagga ggtacacatg agagaaaagt ctttccaatg
      781 taatgagagt ggcaaagcct ttaattatag ctcactctta aggaaacatc aaataatcca
      841 tttaggagag aaacaatata aatgtgatgt atgtggcaag gtctttaatc ggaagcgaaa
      901 cctagtgtgc catcgtagat gtcacactgg ggagaaacct tacaggtgta atgagtgtgg
      961 caagactttc agtcagacgt attcccttac atgccatcgt agacttcata ctggagagaa
     1021 accttacaaa tgtgaagaat gtgacaaagc tttcagtttc aaatcaaacc ttaaaagaca
     1081 taggagaatt catgctggag aaaaaccata caagtgtaat gaatgtggca agacctttag
     1141 tcagacgtca tcccttacat gccatcgtag acttcatact ggagagaaac ctttcaagtg
     1201 taatgagtgt ggcaagacct ttagtcggaa gtcatccctt acatgccatc atagacttca
     1261 tacgggagag aaaccttata agtgtaatga atgtggcaag accttcagtc aggagttaac
     1321 ccttaaatgc catcgtagac ttcataccgg agagaagcct tacaagtgta atgaatgtgg
     1381 caaggttttt aataaaaagg caaaccttgc acgtcatcat agacttcata gtggagagaa
     1441 accctacaag tgtactgagt gtgtcaagac gttcagtcga aattcagccc ttgtaattca
     1501 taaggctatt catattggag agaaacgtta caagtgtaat gagtgtggca agacgttcag
     1561 tcgaatttca gccctcgtaa ttcatacggc aattcatact ggagagaaac cttacaagtg
     1621 taatgaatgt ggcaagggtt ttaatcggaa aacacacctt gcatgtcatc atagacttca
     1681 tactggagag aaaccttaca agtgtaatga atgtggcaag gtttttaatc gaaaaacaca
     1741 ccttgcacat catcatagac ttcatactgg agataaacct tacaagtgta atgaatgtgg
     1801 caaggttttt aatcaaaaag cacaccttgc acgtcaccat agacttcata ctggagagaa
     1861 accttacaag tgtaatgaat gtggcaaggt ttttaatcaa aaagcaaacc ttgcacgtca
     1921 tcatagactt catactggag agaaacctta caagtttaat gagtgtggca aagcttttaa
     1981 ttgaaaagca aagcttgcac atcatcatac aattcatact ggaaagaaac aagtgcaatg
     2041 agtgtggcaa gaccttctgt cacaattcag tccttgtaat tcataagaat tcatactgga
     2101 gagaaacaag tgtaatgaac gttgcaaaat ttttaatcaa caagcacacc ttccacgtca
     2161 tcatagactt catagtggag agaaacctta gaaatgtgaa gcatgtgaca aagtttacag
     2221 tggcaaatcg agcctcaaaa gacaggagaa ttcatactgg agagaaagct tacaaaggtg
     2281 aagaatatca cagagttttc agtcacaagt caaaccttga aagacataaa ataaatcata
     2341 ctgcagagaa accataaaat tgtaagagtt cgtgacaagg ctttcgggca tgactcacac
     2401 ctggcacaac atcctagaat ttatactgga gagaaacctt acaagtgtaa tgagtctggc
     2461 aaagccttaa tgagcagtca acacttactc accatcaggc aatccatggt gaaggaaact
     2521 tgactaatgt aatgattgtc accaagtctt cagtaacgct acaaccattg caaatcattg
     2581 gagaacccat aaggaagaga gatcatacaa gtgtaataat cggcaaattt ttcagacatc
     2641 gtccatacct tgcagttcat tggcgaactc atactggaga caaaccttat aaatgtcatg
     2701 attgaggcaa ggtcttcagt caagcttcat cctatgcaaa acataggaga attcatacag
     2761 gagagaaacc tcacgtgtga tgattgtggc aaagccttta cttcacgttc acacctcctt
     2821 agacatcaga gaatgcacac tggacggaaa tcttacaaat gtcatcagtg tggcaaggtt
     2881 ttcagtctga cttcactcct tgcagaatat cagaaaattc attttgagat aattgttcca
     2941 aatgcaatga gtagagcaaa ccatcaagca gtaattgaca ttaaagtgtt tatgttaaga
     3001 ggattgggcc aggtacagtg tctcacacct gtaatcccag cactttggga ggccaaggcg
     3061 ggtagatcac ttgaggtcag gagtttcaga tcagtctggc caacaaacat gagccacttt
     3121 tcccagtttg ctttttgttc tttaacaaaa actgataggg atttttatgg gtaccgtgtt
     3181 gaatctaaat cacattgggt tatataatca tttaacaata ttaatttttc caatccatca
     3241 atatgggtta tatgtctgta tatgttttta atcatattga tgtatatttg tagatttcaa
     3301 ggtacaaact tctcaccttt ttacttttat ttctatttct ttaagttctc tagcaaatgg
     3361 aagtgttttt aaattttctt ttaaaattgt ttattgttac aaacttctca tctttttgct
     3421 tttattccta agtatttctt actttaagtt ctctagcaaa tggaagtgtt tttaaatttt
     3481 cttttaaaat tgtttattgt taatgtatgg aaattcagct aatttttggt gctgatattg
     3541 tactgtgcag atacactgaa tctgtttatt acttccagta gtattttggt tgagtctttg
     3601 tgattttcta cacagaagat catgtcatct acaaacacat ataattttac ttctttcttt
     3661 ctgatttgga tgggtttgat ttcttttgct atttcattgc tctggctagg acagccagta
     3721 tttattgaat agaaggggtg agagcattct tccatcatgt gagatcctac aggaaaatca
     3781 ttccatgttc cctgcttcgt tatctactcg ttggtcattt catggatggc ctttctattg
     3841 ttgaggtaaa tttccttttc tgtctatttt gttcagaatt tctatgatga gtggattttg
     3901 aattttgtga aatacttttt ctccatctat tgagatgatg tggttttcat ctttcattct
     3961 gttcaagtgg catatcacat tgatttgctt gactatgttg aaccatcctt gcatcccaga
     4021 aataagtggc acttgagtat ctacagtcct ttttacatcc tcttgaatac agctttttag
     4081 tacaaggggt cttcaagaag ttcatggaaa aatacatatt ttgcatatta tgagaaaatt
     4141 gtgtatgaat ttcccagttt ttgcaccaaa ataaactggt acgaatctgt tatgtctgaa
     4201 caggtcctag tttgaggcac ccagaaggat aagacatgag ttttaaaaga gactttctct
     4261 gccgggcgca gtggctcatg cctgtaatcc caacactttg ggaggccaag gtgggtggat
     4321 cacctgagat ccagagttcg agaccagcct caccaacatg gagaaacagc atctctacta
     4381 aaaatacaaa attagccagg catggtggca aatgcctgta atcccagata ctctggaggc
     4441 tgaggcagga gaatggcttg aacccgggag gcagagattg ctgtgagccg agattgcacc
     4501 attgcactcc agcctggtca acaagagcga aactctgtct caaaaaaaaa aaaaagaaaa
     4561 gaaaagaaaa gagactctat caaagcaata taaatcctgc taaaattgaa acaaaaagga
     4621 gcatcaaatt tacagtgaga ccagatgcag tggctcaggc ctgtaatccc agcactttca
     4681 gaggccaaga caggtgggtc atgtaagccc aggtattcaa gacaagcctg ggcaacatgg
     4741 tgaaaccccc ttgtctacaa aaaatacaaa aattagctgg gcacggtagc acatgcatgc
     4801 agggccagct gctgtggagt ctgtggtagg aggatagctc gagcctggga ggttgaggct
     4861 gcagtgagct atgatcatgc cactgcattc cagcatgggt gatggagcga gatactggct
     4921 caaaaaaaaa aatacttctt gtaaagtttg ggtagaggaa taatgaaatc attgatgctt
     4981 tatgaaaaga ttatggagat gatgcccaga agaaataaac agtttgtaaa tggataactt
     5041 agtttgagtt gggacaagac aatgttgaag gtgatgcatg gagtggcagg cacaccatcc
     5101 acatcagttt ttttgtttgt ttttgttgtt gttgtttttt tgagatggtg tctcgctctg
     5161 tctcccaggc tggaatgcag tggtgcaatc tcggctcact gcaacctctg cctcccgggt
     5221 tcaagtgatt ctcctgtctc tgcctcctta gtagctggga ctacaggcgc gtgccaccac
     5281 atcagctaat ttttgtattt ttagtaagac ggggtttcac catgttggca aggctggtct
     5341 tgaactcctg acctcacgat ctgcccacct cagcctccca aagtgtggag attacaggca
     5401 tgagccacca tgccccttgc acatcagttt tacaaaaaaa tttatcttgt ttgtgccaca
     5461 atgaagagga ctgacaggta acagcagaaa caatagtcag gagtttgaga acaggctgat
     5521 taacatggtg aaaccccgtc tctactaaaa atacaaaaat tagctgggtg tggtggcggg
     5581 tgcttgtaat cccagttact caggaggctg aggctgcatt atcgctttaa cctggggggc
     5641 ggaggttgca gtgagccaag atgggggcaa taagagcaaa actttgtctc aaaaaaaaat
     5701 aaataaataa aaaataaaat atgtcaagcc ccttctcttc ctgtctcctc tcgtggtgtg
     5761 tacttgactc cccttctcgc cagatctcac aggactttca gatttaagca atacctggcc
     5821 aagaaacaaa agcaaaatca ttccattccc ccagtggatt cagatcaaaa ctggtaataa
     5881 aatcaggtac gactccaaaa ggagacattg gagaagaacg aagcggggtc tataaggaat
     5941 tgcacgtgag atggcacaca tatttatgct gtgtgagcat tacaatcgcg ttaccatatc
     6001 aagctgaaaa tgtcaccact atctggagtg ttggaaatgt tttattggga atatgttttt
     6061 tctctgaatc tgctatgaac acgtcagttg ggtgggttca gtaataaata tgtgagactt
     6121 ttcatttcaa aataaaaaag gcaaatgatg taa
//
LOCUS       NM_001004303            3183 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens FYN binding protein 2 (FYB2), mRNA.
ACCESSION   NM_001004303
VERSION     NM_001004303.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3183)
  AUTHORS   Jung SH, Yoo EH, Yu MJ, Song HM, Kang HY, Cho JY and Lee JR.
  TITLE     ARAP, a Novel Adaptor Protein, Is Required for TCR Signaling and
            Integrin-Mediated Adhesion
  JOURNAL   J Immunol 197 (3), 942-952 (2016)
   PUBMED   27335501
  REMARK    GeneRIF: results of this study indicate that a novel T cell adaptor
            protein, activation-dependent, raft-recruited ADAP-like
            phosphoprotein (ARAP), plays a unique role in T cells as a part of
            both the proximal activation signaling and inside-out signaling
            pathways that result in integrin activation and T cell adhesion
REFERENCE   2  (bases 1 to 3183)
  AUTHORS   Qi Q, Menzaghi C, Smith S, Liang L, de Rekeneire N, Garcia ME,
            Lohman KK, Miljkovic I, Strotmeyer ES, Cummings SR, Kanaya AM,
            Tylavsky FA, Satterfield S, Ding J, Rimm EB, Trischitta V, Hu FB,
            Liu Y and Qi L.
  TITLE     Genome-wide association analysis identifies TYW3/CRYZ and NDST4 loci
            associated with circulating resistin levels
  JOURNAL   Hum Mol Genet 21 (21), 4774-4780 (2012)
   PUBMED   22843503
REFERENCE   3  (bases 1 to 3183)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX648439.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000343433.7/ ENSP00000345972.6
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA523424.1, DB193989.1, BX648439.1, BU686304.1, AK093468.1 and
            AL035705.22.
            On Nov 23, 2018 this sequence version replaced NM_001004303.4.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3183
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.2"
     gene            1..3183
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
                     /note="FYN binding protein 2"
                     /db_xref="GeneID:199920"
                     /db_xref="HGNC:HGNC:27295"
                     /db_xref="MIM:618478"
     misc_feature    70..72
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
                     /note="upstream in-frame stop codon"
     CDS             115..2301
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
                     /note="uncharacterized protein C1orf168; RP4-758N20.2;
                     activation-dependent, raft-recruited ADAP-like
                     phosphoprotein"
                     /codon_start=1
                     /product="FYN-binding protein 2"
                     /protein_id="NP_001004303.3"
                     /db_xref="CCDS:CCDS30729.1"
                     /db_xref="GeneID:199920"
                     /db_xref="HGNC:HGNC:27295"
                     /db_xref="MIM:618478"
                     /translation="MEGEGVRNFKELRAKFQNLDAPPLPGPIKFPAGVSPKGDIGGTQS
                     TQILANGKPLSSNHKQRTPYCSSSESQPLQPQKIKLAQKSEIPKCSNSPGPLGKSTVCS
                     ATSSQKASLLLEVTQSNVEIITKEKVMVANSFRNKLWNWEKVSSQKSEMSSALLLANYG
                     SKAIHLEGQKGMGLTPEEPRKKLETKGAQTLPSQKHVVAPKILHNVSEDPSFVISQHIR
                     KSWENPPPERSPASSPCQPIYECELASQAPEKQPDVRHHHLPKTKPLPSIDSLGPPPPK
                     PSRPPIVNLQAFQRQPAAVPKTQGEVTVEEGSLSPERLFNAEFEEPHNYEATISYLRHS
                     GNSINLCTAKEIADPTYEVGIEELQKPGKNFPYPEPSAKHEDKKMKEKQPCELKPKNTE
                     KEPYSNHVFKVDACEGTPEKIQMTNVHTGRRNMLAGKQEAMIDIIQTNPCPEGPKLARH
                     SQGHCGHLEVLESTKETPDLGVSKTSSISEEIYDDVEYSRKEVPKLNYSSSLASSSEEN
                     RELYEDVYKTKNNYPKIDLDGKEALKRLQQFFKKEKDRFKIKKTKSKENLSAFSILLPD
                     LELKSQEVIIYDDVDLSEKESKDEDKLKMWKPKFLTPKEKKEKNGAEESESFSPRNFFK
                     TKKQNLEKNRMKREEKLFRERFKYDKEIIVINTAVACSNNSRNGIFDLPISPGEELEVI
                     DTTEQNLVICRNSKGKYGYVLIEHLDFKHQSWSP"
     misc_feature    163..342
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWT5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    862..975
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWT5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1213..1284
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWT5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1585..1587
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:27335501; propagated from
                     UniProtKB/Swiss-Prot (Q5VWT5.1); phosphorylation site"
     misc_feature    1675..1686
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWT5.1);
                     Region: SH2-binding, to LCP2.
                     /evidence=ECO:0000269|PubMed:27335501"
     misc_feature    1873..1875
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:27335501; propagated from
                     UniProtKB/Swiss-Prot (Q5VWT5.1); phosphorylation site"
     regulatory      2448..2453
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
                     /note="hexamer: AATAAA"
     polyA_site      2468
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
     regulatory      3083..3088
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
                     /note="hexamer: AATAAA"
     polyA_site      3102
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
                     /note="major polyA site"
     regulatory      3150..3155
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
                     /note="hexamer: AATAAA"
     polyA_site      3183
                     /gene="FYB2"
                     /gene_synonym="ARAP; C1orf168"
ORIGIN
        1 gtgggaagtg attgctccct ggctagcaga gacagaggaa agcggattgt tggccccagg
       61 acccagctct gagaggctgg gcttgtttcc ctgactctgc cttggaggaa agcaatggaa
      121 ggggaagggg taagaaactt caaggaactt cgagccaaat ttcaaaatct tgatgctcca
      181 cctcttccag gacctattaa attcccagca ggtgtttctc caaagggtga cattggaggc
      241 acacagtcaa ctcaaatttt ggccaatggg aaacccctct catccaacca caagcagcgc
      301 acaccatact gttccagtag tgagtcccag cctcttcaac ctcagaaaat aaagttggct
      361 cagaagagtg aaattccaaa atgttctaac tccccagggc ctctgggaaa gtctactgta
      421 tgttctgcaa caagttcaca gaaggcttct ctgctgttag aggtgactca atcaaatgtt
      481 gagataatca ctaaggaaaa agtaatggtg gccaatagct tcagaaacaa actctggaac
      541 tgggagaagg tttcatctca gaaaagtgaa atgtcttcag cccttctcct tgccaactat
      601 ggaagtaagg ccatccatct ggaagggcaa aaaggcatgg ggcttactcc agaggaaccc
      661 aggaaaaagc tggaaacaaa aggagcccag actcttcctt cccagaagca cgtggtggcc
      721 cccaaaatat tacataacgt ctctgaagat ccctcttttg taatttctca acatatcaga
      781 aaaagctggg aaaacccacc tcctgagagg agcccggcaa gcagcccctg ccagcccatc
      841 tatgagtgtg agcttgccag tcaggcccca gaaaaacagc cagatgtcag gcatcaccac
      901 cttcccaaaa caaagccatt gccctccatc gactccctgg gtcctcctcc cccaaagcct
      961 tcaagacctc ccatcgtgaa cctccaggcc tttcagaggc agccagctgc tgttcccaag
     1021 actcaggggg aagtgactgt ggaagagggc tccctgtctc cagagaggct tttcaatgca
     1081 gaatttgaag aaccacataa ttacgaggca acaatttcat atctgagaca ctctggcaac
     1141 tccattaacc tgtgcactgc aaaagaaatt gctgatccaa cttatgaagt tggaattgaa
     1201 gaactccaaa agcctgggaa gaattttccc tatccagaac ctagtgctaa acatgaagat
     1261 aaaaaaatga aggaaaaaca accatgtgaa ttgaaaccta aaaacacaga aaaggaacca
     1321 tattcaaacc atgttttcaa ggtagatgcc tgtgaaggga cacctgaaaa aattcagatg
     1381 accaacgtcc acacaggtag aaggaacatg ttggctggaa agcaagaggc catgattgac
     1441 atcatccaga caaatccctg ccctgagggc ccaaagctgg ccaggcactc ccaaggccac
     1501 tgtgggcatc tggaggtttt ggagtcaact aaagaaactc cagacctagg ggtctctaag
     1561 acaagttcca tctcggagga gatatatgat gatgtcgagt actccaggaa agaggtaccg
     1621 aagctgaact actctagctc acttgcctca agtagtgaag aaaatagaga actgtatgaa
     1681 gatgtctaca aaacaaagaa caactaccca aagatagatt tagatggaaa agaagcactc
     1741 aaaagactgc agcaattctt caagaaagaa aaggatagat ttaaaataaa gaaaaccaag
     1801 tcgaaagaaa acttaagtgc attttccatt ttgctgcctg atttagaact taagtctcag
     1861 gaagttatta tttatgatga tgtagacctg agtgaaaaag agtcaaaaga tgaagataaa
     1921 ctgaaaatgt ggaagcccaa gtttctgaca ccaaaggaaa aaaaagagaa aaacggtgct
     1981 gaagaatcag aaagtttctc tcctagaaat ttcttcaaaa ccaagaagca aaacttagaa
     2041 aagaacagaa tgaaaagaga agaaaaacta tttagagaaa ggtttaagta cgacaaagag
     2101 attattgtca tcaatacagc agtggcctgt tccaataatt caagaaatgg aatatttgat
     2161 ttgccaataa gtcctggaga agaattggaa gtcattgata ccaccgaaca aaatctagtg
     2221 atatgtcgta attctaaagg caaatatgga tatgtgctca ttgaacatct agatttcaag
     2281 catcaaagtt ggtcacctta gaaaaatcaa gatcaaatgc tatggactgc acaaaggaga
     2341 actagtccta agatcctagt cctgcgttac atcagtttca gtttacatgt caaaattttg
     2401 agatggtgga atctgtggaa actttcgttc tgaacttaaa agagaaaaat aaaaacaaat
     2461 cctcaacatt tagatgttgg ttttactcct aaaaggttat ctttcaatgt ctatttcagt
     2521 atctacttca ctgtcagttc aagagaatgt gaaacagtat gtgttagcat ttgagcactt
     2581 atttaatgag ccatatccaa agttagaaat catgccttat ggcacctagt cagttgtgca
     2641 gatggttagt ttgcttctaa tattagtata tgagcatttg taatttctag atgttgtgca
     2701 ctcaaacttg gtataattta attctgaaca gtaaacagtg taaccaaggt cttttaaata
     2761 ctcaagttta aggtataatc ttaattatgg ctcagtcttt aaaaaagtat aaatgtcctt
     2821 ttactttatc acaaaaataa actcatatga atactgttcc acatttgttt cttttgggaa
     2881 tagtttgcag aaaaataatt tattcctaaa ttcacccatc attttaagaa gtgcccaaat
     2941 gtatttaaca aaataatata tatgctgtat tactttaaaa catctttttg tccaaaataa
     3001 gaacaattgt cattattttg tctatgccca aataactatt caaataatag cattcatatg
     3061 tactttcatt tatatggaat taaataaaaa tttaaaagct gacatctatt ctgtttttta
     3121 aatgaggtgc actgcatgtc aataagagaa ataaattcta catatgcatt taacagttta
     3181 aaa
//
LOCUS       NM_001004304            8557 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 740 (ZNF740), mRNA.
ACCESSION   NM_001004304
VERSION     NM_001004304.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8557)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 8557)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S, Das
            PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A, Ginno
            PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of human
            transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   3  (bases 1 to 8557)
  AUTHORS   Satoh J, Obayashi S, Misawa T, Sumiyoshi K, Oosumi K and Tabunoki H.
  TITLE     Protein microarray analysis identifies human cellular prion protein
            interactors
  JOURNAL   Neuropathol Appl Neurobiol 35 (1), 16-35 (2009)
   PUBMED   18482256
REFERENCE   4  (bases 1 to 8557)
  AUTHORS   Beausoleil SA, Villen J, Gerber SA, Rush J and Gygi SP.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.250393.1,
            SRR1803611.223829.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000416904.5/ ENSP00000409463.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073573.27, BC053557.1 and AK091946.1.
            On Nov 22, 2018 this sequence version replaced NM_001004304.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8557
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..8557
                     /gene="ZNF740"
                     /gene_synonym="Zfp740"
                     /note="zinc finger protein 740"
                     /db_xref="GeneID:283337"
                     /db_xref="HGNC:HGNC:27465"
     misc_feature    412..414
                     /gene="ZNF740"
                     /gene_synonym="Zfp740"
                     /note="upstream in-frame stop codon"
     CDS             424..1005
                     /gene="ZNF740"
                     /gene_synonym="Zfp740"
                     /note="oriLyt TD-element-binding protein 7"
                     /codon_start=1
                     /product="zinc finger protein 740"
                     /protein_id="NP_001004304.1"
                     /db_xref="CCDS:CCDS44896.1"
                     /db_xref="GeneID:283337"
                     /db_xref="HGNC:HGNC:27465"
                     /translation="MAQASLLACEGLAGVSLVPTAASKKMMLSQIASKQAENGERAGSP
                     DVLRCSSQGHRKDSDKSRSRKDDDSLSEASHSKKTVKKVVVVEQNGSFQVKIPKNFVCE
                     HCFGAFRSSYHLKRHILIHTGEKPFECDICDMRFIQKYHLERHKRVHSGEKPYQCERCH
                     QCFSRTDRLLRHKRMCQGCQSKTSDGQFSL"
     misc_feature    520..648
                     /gene="ZNF740"
                     /gene_synonym="Zfp740"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NDX6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    553..555
                     /gene="ZNF740"
                     /gene_synonym="Zfp740"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8NDX6.1);
                     phosphorylation site"
     regulatory      4185..4190
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF740"
                     /gene_synonym="Zfp740"
                     /note="hexamer: TATAAA"
     regulatory      4207..4212
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF740"
                     /gene_synonym="Zfp740"
                     /note="hexamer: ATTAAA"
     polyA_site      4212
                     /gene="ZNF740"
                     /gene_synonym="Zfp740"
                     /note="major polyA site"
     polyA_site      4227
                     /gene="ZNF740"
                     /gene_synonym="Zfp740"
     regulatory      4253..4258
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF740"
                     /gene_synonym="Zfp740"
                     /note="hexamer: AATAAA"
     polyA_site      4278
                     /gene="ZNF740"
                     /gene_synonym="Zfp740"
     polyA_site      4310
                     /gene="ZNF740"
                     /gene_synonym="Zfp740"
     regulatory      8108..8113
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF740"
                     /gene_synonym="Zfp740"
                     /note="hexamer: ATTACA"
     polyA_site      8135
                     /gene="ZNF740"
                     /gene_synonym="Zfp740"
     regulatory      8531..8536
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF740"
                     /gene_synonym="Zfp740"
                     /note="hexamer: AATAAA"
     polyA_site      8557
                     /gene="ZNF740"
                     /gene_synonym="Zfp740"
ORIGIN
        1 gtaaacttgc ctcggtcccg gtgggggcag ccgcggcggt ggggttggca gggtgtgctg
       61 gggcctggag gaggcgccgc gcggccaggg agccagcggg aggccgcgcc tggcaggttt
      121 ctgaaacaga tcgtgagctt catcaagaga attcaactgg aaaaccaaga ctggtagact
      181 ctctttttct tcagacaata ggcaggagcc aggcagagtc cagggattct tggaacacct
      241 atcttttctt cggaggacac taagttctat ttgaagacaa agttcaatat ggcaacagga
      301 ctgatgggac acgaaggagt cgctaccgtg atttggtgac agttcttcaa aacgacagtg
      361 tctcaaggaa aggtggacct aggaactcct gaacttttgg gttgccttaa gtgagaaatc
      421 agcatggctc aggcaagtct cctggcttgt gaaggcctag caggtgtgag tttggttccc
      481 actgcagcca gcaagaagat gatgctgagc cagattgcca gcaagcaggc cgagaatggc
      541 gagcgggcag gtagccctga tgtgctgagg tgctcgagtc agggtcaccg aaaagacagt
      601 gataagtccc ggagccgcaa agatgatgac agcttgtctg aggcctctca ttcaaaaaag
      661 actgttaaaa aggtggtggt agtggaacaa aatggttctt ttcaagtaaa gattcccaaa
      721 aattttgttt gtgaacactg ctttggagcc tttcggagca gttaccacct aaagaggcac
      781 atccttattc acactggtga gaagccattt gaatgcgata tatgtgatat gcgtttcatc
      841 cagaagtacc acctggaacg ccacaagcgt gtgcacagtg gtgaaaagcc ttaccagtgt
      901 gaacggtgtc atcagtgttt ttctcggaca gatcgattac tcagacacaa acggatgtgc
      961 caagggtgcc agtccaagac ttccgacggg cagttttctc tataggcgca aggggccccg
     1021 ggtggtggga gtgatcagaa gaacctgccg aagagcacac cccctctggt ctgatggtcc
     1081 caccaccgcc ccatgtgaac ctgtcccact cctggaggag tggacccagg agaccagaag
     1141 agtgcatcag gggacagtgg ccccagaacc tcagctctgt aaataatctg agactatgag
     1201 tatctcgggg aagttcttac agcattcctg ggtaggggag ctagtccctg gacccttggc
     1261 tgaggtcata ggtggggact caaggtacag gaccaagact gaagtgtggc tcccacaacc
     1321 ttggactcca gctggcagct gaaatggaaa agattgggga aggggatttg tttgttctgt
     1381 tcttgttttt gtttatccaa aagcaacttc agcgggtaaa ctgtggatac aggtaatcca
     1441 gaggcataag agtcctggtc caaagtaggg actatagctg gtccagctct ccccaaaaat
     1501 tgggttttta gttgcagtag ctcctcagtg tttcacaatc ctgcacttcg cctccttttt
     1561 gaggaagaat aaggtcagga atggcagctg agcttacttt ggcttcctta tacactgtag
     1621 ggacaaaagg aaaaacgggg tggagcagac aagggctgga tccaaaaagt ggatggcacc
     1681 tcttccttcc tcaagggaaa aggaagagtt gtgccagtgg gtgttgtcat ggcccatgtc
     1741 acattggcac ctgatggcat cagctcaaat gcctttagga ggaaacttgg gtgagagtgg
     1801 cccatgaagc ccttttcttc tttttttggg gagtcggtct tggagatggt atgtggctac
     1861 ctcgctgcca ttgactccta aagtgagaca gatgtgttga gcaaggagtc atggaagtca
     1921 aagtgggttc tctctccttg tgccctctta ggaacaaccc aagactggtc ccaagttggc
     1981 taacagctgc tcaagaaaca aaggaatctg gggtcttctg acatgcctgt tgagcagtag
     2041 gagctgttct ccctccccaa gtcctatcac tgtattcagg tagaggaggt agggaggggt
     2101 ctgtcctttg gtcccaaaaa acaagatctc ggcttgcttc ctgatggcca tccctaccca
     2161 acagagtgtg ggggatgggg gtgggggtgc tgcagagaaa agactaaaga agaaacctaa
     2221 tgtaggttcc attcttaacc atattctttg ctcctctctg ctccaatacc accaccttgt
     2281 ccactcccaa aaaagtaatc gggtgtgtgt gtgtgtgtga gagagagtgt gtgtgagata
     2341 tgaatgcatg tatttgtatg cttgcaggag atggcatatt attgagccaa acccttctct
     2401 ggccctcacc ttcagggagg atgagtggaa aatagcctcc tcttgcccaa acatgaaggg
     2461 tgcttgaggt ctcagcagga gctgaagaac acaatttggg gaacagaagg gcttttgttt
     2521 tggagggttt ttttttttaa gatgaattca acagcctggt ggttaggatg tttctaaccc
     2581 aagccagggc ttgtgaacat gaattttcta aggtgaaata aaccttttct ttctgctaaa
     2641 gaaagaatcc ttatgggaag ttttggggtt tggttgaccc ccactgtaac ctgacctgac
     2701 ctgtggcggg tacgggaact gtcttagtaa tcatggagac tggctgaacc tgagtgccaa
     2761 gctgtcagta gggtctgaga tgggaaactc ctgaaagtat gatttcattt cccagaaaat
     2821 gtaaagaatg gataccagca atgattcctg gctgttacct attctggagg ggtggggttg
     2881 gggagggggt tgtccatacc tctgtggtat gagtatttca gggaaaaaga aagcaggcat
     2941 ggcacccatt cgattttccc tgacagcatc tgagatcctt ttggggagac gctgaggagt
     3001 gtttgctgcc atgtactctt acagctctat gctgacactc ccatttgatg tggtccagaa
     3061 cttagacctc agtccttgga tcagccctgt ggtccctgca agcaggggca tctttctgca
     3121 tgtgagccag cccccttcct gttcaagggt tctgctggat ctgggctttt cctgtccttc
     3181 acttctggga tgattcaccc cacatcttcc agtaccctgt aaaccatttt aaaatattta
     3241 gaaaactatc ctcccaaaaa tgcttttgaa aatgagagcc ctctgtccct gccacttaca
     3301 gctagtctct ttgggatagg ggtgtatgtg gagagattca tgtaagtctc acatgagtga
     3361 cctgtgcccc tatgtgtact aatgtgtgta ctgggtcaga aggtgccctg ggttcccaca
     3421 gaccttggtt tcctgcctgg gtgggtggga gggagggaac ttcagagagt atgtgcgaac
     3481 agccatagca gagccacccc tgccaaggac ccagtgaggg aaactcagga gcaggtggtt
     3541 ggttcagttc ccgcgctgat gtctggggca gtgcatgtgt gagaagagag gcgcaaagca
     3601 gtgaaaggag tgatttggca tccagagggc ccgggagccc cacggatacc ccagggaagc
     3661 cactgactca caccgctgca gaggctcctg ggcccaatgc ccgacccctg ctggccagca
     3721 tggggcctag cactggaaga tgcctcaggt gtgtttggag tgggggaaac ggaagtaggg
     3781 cacgctctca gagaccagga tagagagtca gggaacctgg gaaagagtag tgccagttcc
     3841 gggtaggctg ctgcaccagg ccctaccagc tcaggctata aacagtctgc tttgccccaa
     3901 gtcttttccg tccaccccca acagccttgt catcacttag ctactgatca cgcccatggc
     3961 ttgacattgg agggttacat tagtggagtc cgccacagct tcgaaccctc tccccagatg
     4021 ccctttgcct ctgctgtggc cctggggttt tatcaactgt ccccttccta tcctcctctc
     4081 caccctgttt tttgtttttt ttttttttaa ataatatttt gctatggggg aggggaatat
     4141 caaatggaca agatcacttt taaatggtag tttttataag atgttataaa cttgtatctt
     4201 tttaccatta aagtgcagtg tatgttcctt cgtgatatat ttaggatatt taaataaaag
     4261 gaaaatgggg cttttctaca tactatctcc tctttgggga agctttttca tactggtttt
     4321 agttgttttc cttttttctc cctacataat caccccacaa cttccagcac cctataagcc
     4381 attttaaaac cccttctcca cagaggaaca agcaagtagg agcaaaaaca gggcatcagt
     4441 tctgagcaag acgaaaaagc acacgcagca ggacggaagg aggctagaca ccaacagatg
     4501 cagtgtctct gacctgggac ccccctgcat ccgcagcact tgagaattca taggcccttt
     4561 ccagacctgg cttcctgggt cccagggtgc accccgggag tttcctgcac attcgcgctt
     4621 gggcacctct ccctgccctc aggtggcaag aggaggatgg acaagagctt tcccgaggcc
     4681 caggctataa acagtctgct ttggccttga tgaggtaaag caaagtgaca gctgtggtct
     4741 gaggtaagac tttattgtat acttgggtgg ggtagcccag atggatgcaa ggttgcaggc
     4801 atgggaagca gccctcttgg gtgtcactct gaaaatgaag tagggtggtg gccgcacctc
     4861 gccagtgaat tagtccccta ccaaggtctt acagacccac ccttcctctc accctccagt
     4921 tcccactgtc ctccaaggag aagagccttg ggtaagtgtc cctccctcct tcagagagtg
     4981 ggactgtctg cctcttgaaa gcgaggattg atggtggtcg tgatggcact tttgtagaga
     5041 ggattactgt cctggagaaa gatgttgcag attataagca aaaatcccag gattcctcgt
     5101 cccctttcta gacctaagag gccagccttg agccgaatcc taggagctga tggaagttag
     5161 cagaggggtt ggttacatgt gccaggggct gggggaaccc agtgggagga atcagggctg
     5221 gtcttgtggt gggggaacag ctaaaaaggg gcctaaccag gaagtctcct cacctgcttc
     5281 cagttgagtt gttgctgctc cttctcaaag cgactgtatt cccggcggtc atagatttcc
     5341 accgagagcc ggtaagccag gaccagcccc agccccactg ccacgatgcc ccctacgcag
     5401 cccagcacaa tggcctgcgt gtggtctgct ccctctgtga acaagaaacc agacacactt
     5461 gtgggagctg gagcataggg acagatcatc agttgctcac agtgtgtcca gcctgtccaa
     5521 ccctgtctgt cactgaaagc aaagggaacc cagggaggtc caaggttatc ctcaccgccc
     5581 agggccttag cctcgtccac ttgctcaatt gcctctgcct ttgtcctgga ttcacagttc
     5641 tgcttcagcc cccagcctgt ttcccattat cttcactctg catccccaga gttgagaccc
     5701 tgcccatcaa acttccaggg tttgtggcat ccctgcccac ttactttctt ggggtctcac
     5761 tctgagcacg accgtgcctc tggcgtcatc ctccaccaag aagaagaaca gctggttgtc
     5821 cagggtccgc tctttgcacc agccatcatc caagataggg gccaaggcca gggtcacatt
     5881 ggtatgggca caagctgtac tgcagttggt ggccagtggg ccagtcctga aggccccaca
     5941 ctctgcacag tccctgtgta gtagatgcca ataggttacc agctgggcag ttgtcaccca
     6001 atgccccttg cccaactaca agcaggacgg agagtaggca gatgggagta gctcaacaag
     6061 ccccactgtg cccctgctcc caagatgcaa gacctgaggc ctcaccggtg tctctcgcat
     6121 ggtgtcttgc agcctgggca ttggtcgcat agagcaccat agtagccgtc caagcactgg
     6181 cagcggttgc atttgcagcg tccatgccca ctgcagagcc ctccctcggg actgatgcaa
     6241 ctgtccatgt ccccactgca ttcgcatgct ctgcccgtgc ggttggcatg acagtgacat
     6301 actccacatt ggcagcgacc aaagcctggg gtagagccat gcagagggtg acaaccatac
     6361 tccacacaca cagttggcca tcatgtggca cgacaagccc acgcatccaa tctttttgaa
     6421 gtatgccaac cacaccctct aacccataca ccggaatctt ttgatatttg ccttccatgc
     6481 caggagattc ccagagccta agtgccttgg gaaggcctct cagaccccgc ccttctcccc
     6541 aaggctccag gtacctccgc agaggatgcc ctcatgtcgc tcacagctgg catcgtcaca
     6601 ctcgcacaga tgcccagagc tctgtccact gcagctgcag cgtccacatt gacagtgacc
     6661 ctttccactg cacaggggcc ctgtgccatt gggagcccgg cacccagatt ccaggtctgg
     6721 ggaggacagc tctgccacag agcactcaca gagccgacct aggcggccag gggcacagct
     6781 ggaaggggaa ggcaaaggag agaagtaggt cagagggttt gatcacccct gacttgtctc
     6841 tcccaggaac ctctaaaccc aagttctcaa aagagttgga gacagacaaa cagctgaaag
     6901 gatgttaagt atagtgaaac actgaggggt gagagagtgg agggagcccc agtcaggggg
     6961 agggcctgga catacatggg aagcttcaag ggatgaaact gagtggggag tcgggatgtc
     7021 gaggagactc ctgtgggggg gatggaaagc agcggaggaa tacgggccag ggttggttgg
     7081 ttgttgggag ccaggtggtt gaagggaaga ggaggccctc acctgcatac accacattgt
     7141 aggtgtccct ggccatcact gcagtgggga gcctggggct gggtgtcact gcaattacag
     7201 tcacacagcg tgtgcaactc cacaatcagc tcctctgaga agccaagggc ccggagcctc
     7261 aggagatggg gctctgggag gcagtgggtg gcttggagag aaacccagaa agtcacctga
     7321 gaagaggcag gaatcaggcc atggttatac acatgcacac acacataccc caaactcacc
     7381 aatcatccag aacctcaccc cttagtaaat gaagggatgg ggtcatgtta acacccaact
     7441 cctagaaaca tgcctgagga agccactcag actgctccag gaaggatgga tggaggacta
     7501 cctcaggctc tcatgtcact ccctgtacct gccacccatc ttttcctgcc tgcttaattt
     7561 cccactccca cctccccctg cccgccttct gcctgtgctt gctggctctc accgtctggt
     7621 tgattcggac gtggttgcac tgtcctcgat cctcagcctt accctccctc ttctcaggac
     7681 cctcacactg ggattcgtaa gaaatgtgga ccccaggagg gagtgaagag tgttcaaggg
     7741 tcacggtgga agacaggctc tatgggaaga gagcgagtgg ataaccacgt gaaggcagaa
     7801 aaggactcca accccacctt atgtcctctc caggtgttcc caattctgcc agcaccctgc
     7861 cctctgccac ctggggctcc ttccattctg cccagtcgag gcatttctgg agggaggacc
     7921 cgtgagaacc ttgcatagaa catacaggat ccagaggcct ctaatacagc atttcagtgc
     7981 agctgccagc aagggccact gagggtcaca ggctggccag gtgctgtaaa tgtacagaga
     8041 ccatgtttgt gaagccccac atcaggacac ataacctggg tgcatgccag gtctaaaggg
     8101 cagattcatt acagagttta tcttgggaaa tttgatactg tctcagattt tcttgccata
     8161 ggtttaggag atgctccctg ttatcaagaa gcctacagcc tagttgcaga ggtaagacct
     8221 aaaccactaa gaatttttat ggttccttct acctgtaaaa ttctatggtt cttgtgaaga
     8281 atagctctga attatttata aacttagtga aagcaggctc cagatctcac attgtttatg
     8341 tacagactga ctggggacaa atgccagccc ttctgtttgt tatctttgtg accttggaca
     8401 agtcacttag cctccttgtg tgggtttcct catctgtaaa atagggatgg taacagttat
     8461 gaagcaaggc ttttggcagg gttaaatgaa gtagcaaaca gtatgtacac ctaggatggt
     8521 gggcgcatga aataaaagct cagtgattga aactttc
//
LOCUS       NM_001004309            3163 bp    mRNA    linear   PRI 24-MAR-2023
DEFINITION  Homo sapiens zinc finger protein 774 (ZNF774), mRNA.
ACCESSION   NM_001004309
VERSION     NM_001004309.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3163)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 3163)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3163)
  AUTHORS   Guan C, He L, Chang Z, Gu X, Liang J and Liu R.
  TITLE     ZNF774 is a potent suppressor of hepatocarcinogenesis through
            dampening the NOTCH2 signaling
  JOURNAL   Oncogene 39 (8), 1665-1680 (2020)
   PUBMED   31659254
  REMARK    GeneRIF: ZNF774 is a potent suppressor of hepatocarcinogenesis
            through dampening the NOTCH2 signaling. Erratum:[Oncogene. 2020 Feb
            3;:. PMID: 32015484]
REFERENCE   4  (bases 1 to 3163)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3163)
  AUTHORS   Okada Y, Terao C, Ikari K, Kochi Y, Ohmura K, Suzuki A, Kawaguchi T,
            Stahl EA, Kurreeman FA, Nishida N, Ohmiya H, Myouzen K, Takahashi M,
            Sawada T, Nishioka Y, Yukioka M, Matsubara T, Wakitani S, Teshima R,
            Tohma S, Takasugi K, Shimada K, Murasawa A, Honjo S, Matsuo K,
            Tanaka H, Tajima K, Suzuki T, Iwamoto T, Kawamura Y, Tanii H,
            Okazaki Y, Sasaki T, Gregersen PK, Padyukov L, Worthington J,
            Siminovitch KA, Lathrop M, Taniguchi A, Takahashi A, Tokunaga K,
            Kubo M, Nakamura Y, Kamatani N, Mimori T, Plenge RM, Yamanaka H,
            Momohara S, Yamada R, Matsuda F and Yamamoto K.
  TITLE     Meta-analysis identifies nine new loci associated with rheumatoid
            arthritis in the Japanese population
  JOURNAL   Nat Genet 44 (5), 511-516 (2012)
   PUBMED   22446963
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.139194.1,
            SRR3476690.634412.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000354377.8/ ENSP00000346348.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA017564.1, BC067279.1 and AC018946.12.
            On May 17, 2019 this sequence version replaced NM_001004309.2.
FEATURES             Location/Qualifiers
     source          1..3163
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     gene            1..3163
                     /gene="ZNF774"
                     /note="zinc finger protein 774"
                     /db_xref="GeneID:342132"
                     /db_xref="HGNC:HGNC:33108"
     misc_feature    136..138
                     /gene="ZNF774"
                     /note="upstream in-frame stop codon"
     CDS             148..1599
                     /gene="ZNF774"
                     /codon_start=1
                     /product="zinc finger protein 774"
                     /protein_id="NP_001004309.2"
                     /db_xref="CCDS:CCDS32330.1"
                     /db_xref="GeneID:342132"
                     /db_xref="HGNC:HGNC:33108"
                     /translation="MWLGTSGKSGLPGHCLENPLQECHPAQLEEWALKGISRPSVISQP
                     EQKEEPWVLPLQNFEARKIPRESHTDCEHQVAKLNQDNSETAEQCGTSSERTNKDLSHT
                     LSWGGNWEQGLELEGQHGTLPGEGQLESFSQERDLNKLLDGYVGEKPMCAECGKSFNQS
                     SYLIRHLRTHTGERPYTCIECGKGFKQSSDLVTHRRTHTGEKPYQCKGCEKKFSDSSTL
                     IKHQRTHTGERPYECPECGKTFGRKPHLIMHQRTHTGEKPYACLECHKSFSRSSNFITH
                     QRTHTGVKPYRCNDCGESFSQSSDLIKHQRTHTGERPFKCPECGKGFRDSSHFVAHMST
                     HSGERPFSCPDCHKSFSQSSHLVTHQRTHTGERPFKCENCGKGFADSSALIKHQRIHTG
                     ERPYKCGECGKSFNQSSHFITHQRIHLGDRPYRCPECGKTFNQRSHFLTHQRTHTGEKP
                     FHCSKCNKSFRQKAHLLCHQNTHLI"
     misc_feature    388..450
                     /gene="ZNF774"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NX45.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1748..1753
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF774"
                     /note="hexamer: GATAAA"
     polyA_site      1787
                     /gene="ZNF774"
     regulatory      3116..3121
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF774"
                     /note="hexamer: TATAAA"
     polyA_site      3142
                     /gene="ZNF774"
                     /note="major polyA site"
ORIGIN
        1 gtgtccccac agccctgtca cgaatcccgg tcgggttctg ggaggcacag cctcggggtt
       61 gcgggccggg tgcggctcgg cggtggagga ctcacttcct gctccatccc cggctgggcc
      121 ctggggcgga actgatgacg cttgataatg tggctgggga cttcagggaa gagtgggtta
      181 cctggacact gcttagagaa tcctctccag gaatgccacc cagcacagtt agaagaatgg
      241 gctctcaaag gaatttccag gcctagtgta atctcccagc cggagcagaa agaagagcca
      301 tgggtcctac cactccaaaa ctttgaggcg aggaagatcc cgagggaaag ccacacagac
      361 tgtgagcatc aggtggcaaa gctcaatcag gacaattctg aaacagcaga acaatgtgga
      421 acatcctcag aaaggaccaa taaagatctt tctcatactc ttagttgggg aggaaactgg
      481 gagcaaggcc tagaattaga agggcaacat ggaacccttc caggagaggg ccagctggag
      541 tccttttcac aggagaggga tttaaacaag ctcctggatg gatatgtagg agagaagcct
      601 atgtgtgcag aatgcgggaa aagctttaac cagagttcct atctcataag acacctaaga
      661 acccacactg gcgagaggcc ctatacgtgc attgagtgtg ggaaaggctt caaacagagc
      721 tcagaccttg tcacccatcg cagaacacac acaggagaga agccctacca atgcaagggg
      781 tgtgagaaga aattcagcga cagctcaaca ctcatcaaac atcagagaac ccacacaggg
      841 gagagaccct atgagtgccc agagtgtgga aagacttttg ggcggaagcc acacctcata
      901 atgcaccaaa gaacccacac aggcgagaag ccctacgcgt gcctggaatg tcacaaaagc
      961 ttcagtcgaa gctcaaattt catcactcac cagaggaccc acacaggggt gaagccttac
     1021 aggtgtaatg actgtgggga gagttttagc cagagctcgg atttgattaa gcaccaacga
     1081 acccacacgg gagaacggcc cttcaaatgc ccggagtgcg ggaagggctt cagagatagt
     1141 tctcattttg tagctcacat gagcactcat tcaggagaga ggcctttcag ttgtcctgac
     1201 tgccacaaaa gcttcagtca gagctcacat ttggtcacgc accaaagaac acacacaggt
     1261 gagagacctt ttaagtgcga aaactgtggg aaaggattcg ccgacagctc cgccctcatt
     1321 aagcaccaac gaatccacac cggagaaaga ccctacaaat gtggagagtg tgggaagagc
     1381 ttcaatcaga gctcccactt tattacccat cagcgaatcc acttaggaga caggccctat
     1441 cgatgtcctg agtgtggcaa gaccttcaat cagcgttccc atttcctcac acaccagaga
     1501 acgcatacag gagaaaaacc tttccactgt agtaaatgta acaagagctt ccgtcagaaa
     1561 gcgcatcttt tatgccatca aaacacccat ttgatttagg aagtagtctt tggtgttcag
     1621 ctgctccctt gcacattttc attgctactg tcttcaagca ccccaaatag agaaaacctg
     1681 ggcgtcagtg gctcaatttg ggccctgatc tattctccct ctttcttgtc tatgttataa
     1741 cagagaggat aaacttaaag ggtccaaata acggtccgaa tacaaaaggc attccttcag
     1801 tgtgtgactg actcttaggg aaatgtgagt ttaatagttg atgcccgcca ggcgtggtgg
     1861 ctcacccctg taatcccagc acttttggga ggccaaggtg ggtggatcac ttgaggtcag
     1921 gagttgagac cagcctggtg agcatggtga aacctcatct ctactaaaaa tgcaaaaatt
     1981 agctgggcat ggtggcacgt gcctgtagtc ccagctactc gggaggccga ggcagaagaa
     2041 tcatttgaac tcagaaggtg caggttgcag tgagttgaga tcatgccact gcactccagc
     2101 ctgggcaaca gagagagact ctgtctccaa aaaaattaaa aagttgatgc ctagttacta
     2161 aatgagaagt gagaaaaatg tggcctagag atcacatgtt caccacctag tacagtgcct
     2221 ggcacaacat agatgctcaa taactaaatg gtcccatcat tattaatgat taatagttga
     2281 ggtcttatat aaaggcttta atgcagtacc tggcccttaa aagacactca gtacaagatt
     2341 ggtggctttt atcagtctta ttactcaatt agaaatttat tagtgtagtc cccccgcccc
     2401 aaactcagaa cgtgaaagaa attagattgg aactagaagg tttggggttg gaatacacaa
     2461 attgaataaa atggaaatgc actgccagtt cagtgctgtg caggcattag tcaccagagg
     2521 tctcactgcc atgacaaggc caaattatcg tagaggatgt ttgcggtctt gtgacttgga
     2581 ggctgaaaga atttcagaag ctcttttaaa tggcagtgta tggcagtgta tctaccagag
     2641 gtttgctgtc atctgacaca gagaaaatat cctacaatga acaagccaga gggacctggt
     2701 agaggactat aaaattgtgg aagcaaaatt gctgagaatg tcaaatgata ttacagggat
     2761 cctccctggc atttagctga aggaagcaac tcttgttttc taatttgctg ggtcattggc
     2821 catttagttt taggttaata taattctctg atccttttag ggccatccag gttatgcact
     2881 agtacattcc tacattcaat tgaaataaat tgagggacgg caagtgtgtt ggaaagaaca
     2941 ccgacttcat tgagaaggta aagtatttga gtcctggccc tgacgcttaa tttggccaga
     3001 ctttcatctt ctcccagcct caagttttac ctacctcaca aggttgttgt gaggatctaa
     3061 aaatacacac acacacacac acacacacac acacacacac actttgttgg ttaactataa
     3121 atgtaatatc tctatgttat aattctgttg ctaatgtctt ttt
//
LOCUS       NM_001004310            1966 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens Fc receptor like 6 (FCRL6), transcript variant 1, mRNA.
ACCESSION   NM_001004310
VERSION     NM_001004310.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1966)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1966)
  AUTHORS   Reiner AP, Beleza S, Franceschini N, Auer PL, Robinson JG,
            Kooperberg C, Peters U and Tang H.
  TITLE     Genome-wide association and population genetic analysis of
            C-reactive protein in African American and Hispanic American women
  JOURNAL   Am J Hum Genet 91 (3), 502-512 (2012)
   PUBMED   22939635
REFERENCE   3  (bases 1 to 1966)
  AUTHORS   Kulemzin SV, Zamoshnikova AY, Yurchenko MY, Vitak NY, Najakshin AM,
            Fayngerts SA, Chikaev NA, Reshetnikova ES, Kashirina NM, Peclo MM,
            Rutkevich PN, Shevelev AY, Yanushevskaya EV, Baranov KO, Mamonkin M,
            Vlasik TN, Sidorenko SP, Taranin AV and Mechetina LV.
  TITLE     FCRL6 receptor: expression and associated proteins
  JOURNAL   Immunol Lett 134 (2), 174-182 (2011)
   PUBMED   20933011
REFERENCE   4  (bases 1 to 1966)
  AUTHORS   Schreeder DM, Cannon JP, Wu J, Li R, Shakhmatov MA and Davis RS.
  TITLE     Cutting edge: FcR-like 6 is an MHC class II receptor
  JOURNAL   J Immunol 185 (1), 23-27 (2010)
   PUBMED   20519654
  REMARK    GeneRIF: Human FCRL6 receptor, selectively expressed by cytotoxic T
            and natural killer (NK) cells, directly binds the major
            histocompatibility complex (MHC) class II molecule HLA-DR.
REFERENCE   5  (bases 1 to 1966)
  AUTHORS   Schreeder DM, Pan J, Li FJ, Vivier E and Davis RS.
  TITLE     FCRL6 distinguishes mature cytotoxic lymphocytes and is upregulated
            in patients with B-cell chronic lymphocytic leukemia
  JOURNAL   Eur J Immunol 38 (11), 3159-3166 (2008)
   PUBMED   18991291
  REMARK    GeneRIF: FCRL6 is a distinct indicator of cytotoxic effector
            lymphocytes that is upregulated in diseases characterized by chronic
            immune stimulation.
REFERENCE   6  (bases 1 to 1966)
  AUTHORS   Wilson TJ, Presti RM, Tassi I, Overton ET, Cella M and Colonna M.
  TITLE     FcRL6, a new ITIM-bearing receptor on cytolytic cells, is broadly
            expressed by lymphocytes following HIV-1 infection
  JOURNAL   Blood 109 (9), 3786-3793 (2007)
   PUBMED   17213291
REFERENCE   7  (bases 1 to 1966)
  AUTHORS   Taylor AI, Gould HJ, Sutton BJ and Calvert RA.
  TITLE     The first avian Ig-like Fc receptor family member combines features
            of mammalian FcR and FCRL
  JOURNAL   Immunogenetics 59 (4), 323-328 (2007)
   PUBMED   17273841
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY654628.1, AY513661.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368106.4/ ENSP00000357086.3
            RefSeq Select criteria      :: based on computational evidence
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590560.9, DA959587.1, AY513661.1, AK131201.1 and AI631310.1.
            On Nov 22, 2018 this sequence version replaced NM_001004310.2.
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer protein (isoform 1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1966
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.2"
     gene            1..1966
                     /gene="FCRL6"
                     /gene_synonym="FcRH6"
                     /note="Fc receptor like 6"
                     /db_xref="GeneID:343413"
                     /db_xref="HGNC:HGNC:31910"
                     /db_xref="MIM:613562"
     misc_feature    18..20
                     /gene="FCRL6"
                     /gene_synonym="FcRH6"
                     /note="upstream in-frame stop codon"
     CDS             66..1370
                     /gene="FCRL6"
                     /gene_synonym="FcRH6"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; IFGP6; fc receptor-like protein 6; IgSF type I
                     transmembrane receptor; leukocyte receptor; Fc
                     receptor-like protein 7; fcR-like protein 6; fc receptor
                     homolog 6"
                     /codon_start=1
                     /product="Fc receptor-like protein 6 isoform 1 precursor"
                     /protein_id="NP_001004310.2"
                     /db_xref="CCDS:CCDS30912.1"
                     /db_xref="GeneID:343413"
                     /db_xref="HGNC:HGNC:31910"
                     /db_xref="MIM:613562"
                     /translation="MLLWTAVLLFVPCVGKTVWLYLQAWPNPVFEGDALTLRCQGWKNT
                     PLSQVKFYRDGKFLHFSKENQTLSMGAATVQSRGQYSCSGQVMYIPQTFTQTSETAMVQ
                     VQELFPPPVLSAIPSPEPREGSLVTLRCQTKLHPLRSALRLLFSFHKDGHTLQDRGPHP
                     ELCIPGAKEGDSGLYWCEVAPEGGQVQKQSPQLEVRVQAPVSRPVLTLHHGPADPAVGD
                     MVQLLCEAQRGSPPILYSFYLDEKIVGNHSAPCGGTTSLLFPVKSEQDAGNYSCEAENS
                     VSRERSEPKKLSLKGSQVLFTPASNWLVPWLPASLLGLMVIAAALLVYVRSWRKAGPLP
                     SQIPPTAPGGEQCPLYANVHHQKGKDEGVVYSVVHRTSKRSEARSAEFTVGRKDSSIIC
                     AEVRCLQPSEVSSTEVNMRSRTLQEPLSDCEEVLC"
     sig_peptide     66..122
                     /gene="FCRL6"
                     /gene_synonym="FcRH6"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q6DN72.2)"
     misc_feature    258..260
                     /gene="FCRL6"
                     /gene_synonym="FcRH6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6DN72.2); glycosylation site"
     misc_feature    882..884
                     /gene="FCRL6"
                     /gene_synonym="FcRH6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6DN72.2); glycosylation site"
     misc_feature    987..1049
                     /gene="FCRL6"
                     /gene_synonym="FcRH6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6DN72.2);
                     transmembrane region"
     misc_feature    1170..1187
                     /gene="FCRL6"
                     /gene_synonym="FcRH6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6DN72.2);
                     Region: ITIM motif"
     misc_feature    1176..1178
                     /gene="FCRL6"
                     /gene_synonym="FcRH6"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:17213291; propagated from
                     UniProtKB/Swiss-Prot (Q6DN72.2); phosphorylation site"
     regulatory      1938..1943
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FCRL6"
                     /gene_synonym="FcRH6"
                     /note="hexamer: AATAAA"
     polyA_site      1966
                     /gene="FCRL6"
                     /gene_synonym="FcRH6"
                     /note="major polyA site"
ORIGIN
        1 ctctgccggc ttcgccctga cctgtttctg acctgtgttc cctccgctgt gccagaacag
       61 gccccatgct gctctggacg gctgtgctgc tctttgttcc ctgtgttggg aaaactgtct
      121 ggctgtacct ccaagcctgg ccaaaccctg tgtttgaagg agatgccctg actctgcgat
      181 gtcagggatg gaagaataca ccactgtctc aggtgaagtt ctacagagat ggaaaattcc
      241 ttcatttctc taaggaaaac cagactctgt ccatgggagc agcaacagtg cagagccgtg
      301 gccagtacag ctgctctggg caggtgatgt atattccaca gacattcaca caaacttcag
      361 agactgccat ggttcaagtc caagagctgt ttccacctcc tgtgctgagt gccatcccct
      421 ctcctgagcc ccgagagggt agcctggtga ccctgagatg tcagacaaag ctgcaccccc
      481 tgaggtcagc cttgaggctc cttttctcct tccacaagga cggccacacc ttgcaggaca
      541 ggggccctca cccagaactc tgcatcccgg gagccaagga gggagactct gggctttact
      601 ggtgtgaggt ggcccctgag ggtggccagg tccagaagca gagcccccag ctggaggtca
      661 gagtgcaggc tcctgtatcc cgtcctgtgc tcactctgca ccacgggcct gctgaccctg
      721 ctgtggggga catggtgcag ctcctctgtg aggcacagag gggctcccct ccgatcctgt
      781 attccttcta ccttgatgag aagattgtgg ggaaccactc agctccctgt ggtggaacca
      841 cctccctcct cttcccagtg aagtcagaac aggatgctgg gaactactcc tgcgaggctg
      901 agaacagtgt ctccagagag aggagtgagc ccaagaagct gtctctgaag ggttctcaag
      961 tcttgttcac tcccgccagc aactggctgg ttccttggct tcctgcgagc ctgcttggcc
     1021 tgatggttat tgctgctgca cttctggttt atgtgagatc ctggagaaaa gctgggcccc
     1081 ttccatccca gataccaccc acagctccag gtggagagca gtgcccacta tatgccaacg
     1141 tgcatcacca gaaagggaaa gatgaaggtg ttgtctactc tgtggtgcat agaacctcaa
     1201 agaggagtga agccaggtct gctgagttca ccgtggggag aaaggacagt tctatcatct
     1261 gtgcggaggt gagatgcctg cagcccagtg aggtttcatc cacggaggtg aatatgagaa
     1321 gcaggactct ccaagaaccc cttagcgact gtgaggaggt tctctgctag tgatggtgtt
     1381 ctcctatcaa cacacgccca cccccagtct ccagtgctcc tcaggaagac agtggggtcc
     1441 tcaactcttt ctgtgggtcc ttcagttccc aagcccagca tcacagagcc ccctgagccc
     1501 ttgtcctggt caggagcacc tgaaccctgg gttcttttct tagcagaaga ccaaccaatg
     1561 gaatgggaag ggagatgctc ccaccaacac acacacttag gttcaatcag tgacactgga
     1621 cacataagcc acagatgtct tctttccata caagcatgtt agttcgcccc aatatacata
     1681 tatatatgaa atagtcatgt gccgcataac aacatttcag tcagtgatag actgcataca
     1741 caacagtggt cccataagac tgtaatggag tttaaaaatt cctactgcct agtgatatca
     1801 tagttgcctt aacatcataa cacaacacat ttctcacgcg tttgtggtga tgctggtaca
     1861 aacaagctac agcgccgcta gtcatataca aatatagcac atacaattat gtacagtaca
     1921 ctatacttga taatgataat aaacaactat gttactggtt tatgta
//
LOCUS       NM_001004311             722 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens folliculogenesis specific bHLH transcription factor
            (FIGLA), mRNA.
ACCESSION   NM_001004311
VERSION     NM_001004311.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 722)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 722)
  AUTHORS   Yuan P, He Z, Sun S, Li Y, Wang W, Liang X, Xie X, Jiang Y and Yang
            D.
  TITLE     Bi-allelic recessive loss-of-function mutations in FIGLA cause
            premature ovarian insufficiency with short stature
  JOURNAL   Clin Genet 95 (3), 409-414 (2019)
   PUBMED   30474133
  REMARK    GeneRIF: Our results support the notion that bi-allelic recessive
            loss-of-function effects of FIGLA contribute to POI patients with
            short stature and expand the FIGLA-related phenotypic spectrum.
REFERENCE   3  (bases 1 to 722)
  AUTHORS   Chen B, Li L, Wang J, Li T, Pan H, Liu B, Zhou Y, Cao Y and Wang B.
  TITLE     Consanguineous familial study revealed biallelic FIGLA mutation
            associated with premature ovarian insufficiency
  JOURNAL   J Ovarian Res 11 (1), 48 (2018)
   PUBMED   29914564
  REMARK    GeneRIF: Biallelic mutations in FIGLA may be the cause of premature
            ovarian insufficiency (POI) . This study will aid researchers and
            clinicians in genetic counseling of POI and provides new insights
            into understanding the mode of genetic inheritance of FIGLA
            mutations in POI pathology. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 722)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S, Das
            PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A, Ginno
            PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of human
            transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   5  (bases 1 to 722)
  AUTHORS   Tosh D, Rani HS, Murty US, Deenadayal A and Grover P.
  TITLE     Mutational analysis of the FIGLA gene in women with idiopathic
            premature ovarian failure
  JOURNAL   Menopause 22 (5), 520-526 (2015)
   PUBMED   25314148
  REMARK    GeneRIF: study identified an association between FIGLA gene variants
            and the occurrence of premature ovarian failure(POF) in the Indian
            population; findings suggest that the c.427G->C and c.557C->T
            alleles lead to an increased risk of POF in Indian women
REFERENCE   6  (bases 1 to 722)
  AUTHORS   Suzumori N, Pangas SA and Rajkovic A.
  TITLE     Candidate genes for premature ovarian failure
  JOURNAL   Curr Med Chem 14 (3), 353-357 (2007)
   PUBMED   17305537
  REMARK    Review article
REFERENCE   7  (bases 1 to 722)
  AUTHORS   Pangas SA and Rajkovic A.
  TITLE     Transcriptional regulation of early oogenesis: in search of masters
  JOURNAL   Hum Reprod Update 12 (1), 65-76 (2006)
   PUBMED   16143663
  REMARK    Review article
REFERENCE   8  (bases 1 to 722)
  AUTHORS   Bayne RA, Martins da Silva SJ and Anderson RA.
  TITLE     Increased expression of the FIGLA transcription factor is associated
            with primordial follicle formation in the human fetal ovary
  JOURNAL   Mol Hum Reprod 10 (6), 373-381 (2004)
   PUBMED   15044608
  REMARK    GeneRIF: These results suggest that FIGLA is involved in continued
            oocyte survival as primordial follicles form in the human as in the
            rodent ovary.
REFERENCE   9  (bases 1 to 722)
  AUTHORS   Huntriss J, Gosden R, Hinkins M, Oliver B, Miller D, Rutherford AJ
            and Picton HM.
  TITLE     Isolation, characterization and expression of the human Factor In
            the Germline alpha (FIGLA) gene in ovarian follicles and oocytes
  JOURNAL   Mol Hum Reprod 8 (12), 1087-1095 (2002)
   PUBMED   12468641
  REMARK    GeneRIF: Expression of mRNA observed in ovarian follicles, mature
            oocytes, and less frequently in preimplantation embryos.
REFERENCE   10  (bases 1 to 722)
  AUTHORS   Miyamoto T, Sengoku K, Takuma N, Hasuike S, Hayashi H, Yamauchi T,
            Yamashita T and Ishikawa M.
  TITLE     Isolation and expression analysis of the testis-specific gene,
            STRA8, stimulated by retinoic acid gene 8
  JOURNAL   J Assist Reprod Genet 19 (11), 531-535 (2002)
   PUBMED   12489526
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY541030.1, BC039536.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2158188 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000332372.6/ ENSP00000333097.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY541030.1 and AC007395.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 11, 2009 this sequence version replaced NM_001004311.2.
            Summary: This gene encodes a protein that functions in postnatal
            oocyte-specific gene expression. The protein is a basic
            helix-loop-helix transcription factor that regulates multiple
            oocyte-specific genes, including genes involved in folliculogenesis
            and those that encode the zona pellucida. Mutations in this gene
            cause premature ovarian failure type 6. [provided by RefSeq, Sep
            2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..722
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     gene            1..722
                     /gene="FIGLA"
                     /gene_synonym="BHLHC8; FIGALPHA; POF6"
                     /note="folliculogenesis specific bHLH transcription factor"
                     /db_xref="GeneID:344018"
                     /db_xref="HGNC:HGNC:24669"
                     /db_xref="MIM:608697"
     CDS             6..665
                     /gene="FIGLA"
                     /gene_synonym="BHLHC8; FIGALPHA; POF6"
                     /note="transcription factor FIGa; class C basic
                     helix-loop-helix protein 8; folliculogenesis-specific basic
                     helix-loop-helix protein"
                     /codon_start=1
                     /product="factor in the germline alpha"
                     /protein_id="NP_001004311.2"
                     /db_xref="CCDS:CCDS46320.1"
                     /db_xref="GeneID:344018"
                     /db_xref="HGNC:HGNC:24669"
                     /db_xref="MIM:608697"
                     /translation="MDPAPGVLDPRAAPPALLGTPQAEVLEDVLREQFGPLPQLAAVCR
                     LKRLPSGGYSSTENLQLVLERRRVANAKERERIKNLNRGFARLKALVPFLPQSRKPSKV
                     DILKGATEYIQVLSDLLEGAKDSKKQDPDEQSYSNNSSESHTSSARQLSRNITQHISCA
                     FGLKNEEEGPWADGGSGEPAHACRHSVMSTTEIISPTRSLDRFPEVELLSHRLPQV"
     misc_feature    375..458
                     /gene="FIGLA"
                     /gene_synonym="BHLHC8; FIGALPHA; POF6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6QHK4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      701..706
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FIGLA"
                     /gene_synonym="BHLHC8; FIGALPHA; POF6"
                     /note="hexamer: AATAAA"
     polyA_site      722
                     /gene="FIGLA"
                     /gene_synonym="BHLHC8; FIGALPHA; POF6"
                     /note="major polyA site"
ORIGIN
        1 ctgccatgga ccccgcgccc ggcgtcctag atccccgcgc cgcgccgccc gcgctcctgg
       61 gcaccccgca agccgaggtg ctggaggacg tgttgcggga gcagttcggg ccgctgcccc
      121 agctggccgc tgtctgccgg ctcaagcggc tgccctcggg cggctactcg tccactgaaa
      181 acctccagtt ggtgctggag cggcggcgtg tggccaacgc caaggagcgt gagcggataa
      241 aaaatctcaa ccgtggtttt gccagattga aggcacttgt gccatttctt ccccaaagca
      301 ggaagcccag caaagttgat atccttaaag gtgcgactga atatatacag gttctcagtg
      361 atcttttgga aggagccaaa gactcaaaga aacaagaccc agatgagcag agctatagta
      421 acaacagttc tgaatcacat acatcctcgg caagacagct gtcaagaaac atcacccaac
      481 atatcagctg tgctttcggc ttgaagaatg aagaggaagg gccttgggca gatggtggca
      541 gtggtgagcc agcacacgct tgtcgccaca gtgtgatgtc tacgactgaa attatctccc
      601 caaccagaag tctggataga ttcccagaag tagaactgct gagtcacaga cttccacaag
      661 tatgaaaaat gaaaaggccc agggttacct tctagagaca aataaatgca gtcttgaaag
      721 tt
//
LOCUS       NM_001004312            1346 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens receptor transporter protein 2 (RTP2), mRNA.
ACCESSION   NM_001004312
VERSION     NM_001004312.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1346)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1346)
  AUTHORS   Yu T, Su X, Pan Y and Zhuang H.
  TITLE     Receptor-transporting protein (RTP) family members play divergent
            roles in the functional expression of odorant receptors
  JOURNAL   PLoS One 12 (6), e0179067 (2017)
   PUBMED   28586385
  REMARK    GeneRIF: further cell-surface and permeabilized immunocytochemical
            studies revealed that odorant receptors (ORs) and the co-expressed
            RTP1S proteins were retained in the Golgi when co-transfected with
            RTP2, indicating that RTP1S and RTP2 could play different roles in
            the OR trafficking process. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1346)
  AUTHORS   Hancock DB, Soler Artigas M, Gharib SA, Henry A, Manichaikul A,
            Ramasamy A, Loth DW, Imboden M, Koch B, McArdle WL, Smith AV,
            Smolonska J, Sood A, Tang W, Wilk JB, Zhai G, Zhao JH, Aschard H,
            Burkart KM, Curjuric I, Eijgelsheim M, Elliott P, Gu X, Harris TB,
            Janson C, Homuth G, Hysi PG, Liu JZ, Loehr LR, Lohman K, Loos RJ,
            Manning AK, Marciante KD, Obeidat M, Postma DS, Aldrich MC,
            Brusselle GG, Chen TH, Eiriksdottir G, Franceschini N, Heinrich J,
            Rotter JI, Wijmenga C, Williams OD, Bentley AR, Hofman A, Laurie CC,
            Lumley T, Morrison AC, Joubert BR, Rivadeneira F, Couper DJ,
            Kritchevsky SB, Liu Y, Wjst M, Wain LV, Vonk JM, Uitterlinden AG,
            Rochat T, Rich SS, Psaty BM, O'Connor GT, North KE, Mirel DB,
            Meibohm B, Launer LJ, Khaw KT, Hartikainen AL, Hammond CJ, Glaser S,
            Marchini J, Kraft P, Wareham NJ, Volzke H, Stricker BH, Spector TD,
            Probst-Hensch NM, Jarvis D, Jarvelin MR, Heckbert SR, Gudnason V,
            Boezen HM, Barr RG, Cassano PA, Strachan DP, Fornage M, Hall IP,
            Dupuis J, Tobin MD and London SJ.
  TITLE     Genome-wide joint meta-analysis of SNP and SNP-by-smoking
            interaction identifies novel loci for pulmonary function
  JOURNAL   PLoS Genet 8 (12), e1003098 (2012)
   PUBMED   23284291
REFERENCE   4  (bases 1 to 1346)
  AUTHORS   Behrens M, Bartelt J, Reichling C, Winnig M, Kuhn C and Meyerhof W.
  TITLE     Members of RTP and REEP gene families influence functional bitter
            taste receptor expression
  JOURNAL   J Biol Chem 281 (29), 20650-20659 (2006)
   PUBMED   16720576
REFERENCE   5  (bases 1 to 1346)
  AUTHORS   Clark AJ, Metherell LA, Cheetham ME and Huebner A.
  TITLE     Inherited ACTH insensitivity illuminates the mechanisms of ACTH
            action
  JOURNAL   Trends Endocrinol Metab 16 (10), 451-457 (2005)
   PUBMED   16271481
  REMARK    Review article
REFERENCE   6  (bases 1 to 1346)
  AUTHORS   Saito H, Kubota M, Roberts RW, Chi Q and Matsunami H.
  TITLE     RTP family members induce functional expression of mammalian odorant
            receptors
  JOURNAL   Cell 119 (5), 679-691 (2004)
   PUBMED   15550249
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC068081.1, BQ671345.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2146411 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000358241.1/ ENSP00000350976.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC068081.1, AY562236.1 and AC072022.19.
            On Sep 15, 2009 this sequence version replaced NM_001004312.1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
FEATURES             Location/Qualifiers
     source          1..1346
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.3"
     gene            1..1346
                     /gene="RTP2"
                     /gene_synonym="Z3CXXC2"
                     /note="receptor transporter protein 2"
                     /db_xref="GeneID:344892"
                     /db_xref="HGNC:HGNC:32486"
                     /db_xref="MIM:609138"
     misc_feature    397..399
                     /gene="RTP2"
                     /gene_synonym="Z3CXXC2"
                     /note="upstream in-frame stop codon"
     CDS             430..1107
                     /gene="RTP2"
                     /gene_synonym="Z3CXXC2"
                     /note="zinc finger, 3CxxC-type 2; 3CxxC-type zinc finger
                     protein 2; receptor (chemosensory) transporter protein 2"
                     /codon_start=1
                     /product="receptor-transporting protein 2"
                     /protein_id="NP_001004312.2"
                     /db_xref="CCDS:CCDS33911.1"
                     /db_xref="GeneID:344892"
                     /db_xref="HGNC:HGNC:32486"
                     /db_xref="MIM:609138"
                     /translation="MCTSLTTCEWKKVFYEKMEVAKPADSWELIIDPNLKPSELAPGWK
                     QYLEQHASGRFHCSWCWHTWQSAHVVILFHMFLDRAQRAGSVRMRVFKQLCYECGTARL
                     DESSMLEENIEGLVDNLITSLREQCYEEDGGQYRIHVASRPDSGPHRAEFCEACQEGIV
                     HWKPSEKLLEEEVTTYTSEASKPRAQAGSGYNFLSLRWCLFWASLCLLVVYLQFSFLSP
                     AFF"
     misc_feature    1018..1086
                     /gene="RTP2"
                     /gene_synonym="Z3CXXC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QGT7.1);
                     transmembrane region"
ORIGIN
        1 ctagggtgtc gtacttacca tagcacatga tgtggagaat gctagaagag cagttgggtg
       61 aagcagggcc accaaatagt ccttgcctcc tggagacctc tggaaatcca gatgagtgtg
      121 gtctgaggtt gggcctccca ctgtgcttgc tcctctcagg cctacccagc gctgcctctg
      181 aagcctaact cagggccctg aaactccccc ttggggcttc ccttctcccc agccctcact
      241 cttggtgccc tgcctggcta ccatggtaac aggttccagg gtaacagagg agggagctgg
      301 gtcctgttta ctcccagtcc tgccgatgag gattctgacc gtagacactg aattgtcccg
      361 tacctatccg tgctctttct gtgttctcac cagggctgag ctcgaactgc cacctctgcc
      421 agcaggacca tgtgtaccag cttgaccact tgtgagtgga agaaagtctt ctatgagaag
      481 atggaggtgg caaagccagc ggacagctgg gagctcatca tagaccccaa cctcaagccc
      541 agtgagctgg cccctggctg gaagcagtac ctggagcagc acgcctcagg caggttccac
      601 tgctcctggt gctggcacac ctggcagtct gcccatgtgg tcatcctctt ccacatgttc
      661 ctggaccgcg cccagcgggc gggctcggtg cgcatgcgcg tcttcaagca gctgtgctat
      721 gagtgcggca cggcgcggct ggacgagtcc agcatgctgg aggagaacat cgagggcctg
      781 gtggacaacc tcatcaccag cctgcgcgag cagtgctacg aggaggatgg tggccagtac
      841 cgcatccacg tggccagccg cccggacagc gggccgcatc gtgcagagtt ctgtgaggcc
      901 tgccaggagg gcatcgttca ctggaagccc agcgagaagc tgctggagga ggaggtgacc
      961 acctacacct ctgaagcctc caagccgagg gcccaggcgg gatccggcta caacttcttg
     1021 tctcttcgct ggtgcctctt ctgggcctct ctctgcctgc tcgttgttta cctgcagttc
     1081 tccttcctca gtcctgcctt cttttagtgg agctggttaa gggtgggaga gggcacatgg
     1141 gcttgagagt ggggaggaca cagtctggac ttgatcctgc tacagattca acatatgact
     1201 ggacaatccg gtcacctctc tgggcctcag ttaatgcatc tgcggaatga gaggattgca
     1261 ttagaagata ggcaatgatt ctttcactgg atgtgacaat aattggggga aggggaaaag
     1321 ggtgtaataa aggttttaga gcttgc
//
LOCUS       NM_001004313            2813 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens transmembrane protein 220 (TMEM220), transcript variant
            1, mRNA.
ACCESSION   NM_001004313
VERSION     NM_001004313.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2813)
  AUTHORS   Li T, Guan L, Tang G, He B, Huang L, Wang J, Li M, Bai Y, Li X and
            Zhang H.
  TITLE     Downregulation of TMEM220 promotes tumor progression in
            Hepatocellular Carcinoma
  JOURNAL   Cancer Gene Ther 29 (6), 835-844 (2022)
   PUBMED   34321624
  REMARK    GeneRIF: Downregulation of TMEM220 promotes tumor progression in
            Hepatocellular Carcinoma.
REFERENCE   2  (bases 1 to 2813)
  AUTHORS   Rong H, Li Y, Hu S, Gao L, Yi T, Xie Y, Cai P, Li J, Dai X, Ye M and
            Liao Q.
  TITLE     Prognostic signatures and potential pathogenesis of eRNAs-related
            genes in colon adenocarcinoma
  JOURNAL   Mol Carcinog 61 (1), 59-72 (2022)
   PUBMED   34622496
  REMARK    GeneRIF: Prognostic signatures and potential pathogenesis of
            eRNAs-related genes in colon adenocarcinoma.
REFERENCE   3  (bases 1 to 2813)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2813)
  AUTHORS   Choi B, Han TS, Min J, Hur K, Lee SM, Lee HJ, Kim YJ and Yang HK.
  TITLE     MAL and TMEM220 are novel DNA methylation markers in human gastric
            cancer
  JOURNAL   Biomarkers 22 (1), 35-44 (2017)
   PUBMED   27329150
  REMARK    GeneRIF: MAL and TMEM220 were specifically methylated and were
            down-regulated in human gastric cancer
REFERENCE   5  (bases 1 to 2813)
  AUTHORS   Brandler WM, Morris AP, Evans DM, Scerri TS, Kemp JP, Timpson NJ, St
            Pourcain B, Smith GD, Ring SM, Stein J, Monaco AP, Talcott JB,
            Fisher SE, Webber C and Paracchini S.
  TITLE     Common variants in left/right asymmetry genes and pathways are
            associated with relative hand skill
  JOURNAL   PLoS Genet 9 (9), e1003751 (2013)
   PUBMED   24068947
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY550194.1, AK289624.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000341871.8/ ENSP00000339830.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC002347.3.
            On Aug 31, 2019 this sequence version replaced NM_001004313.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2813
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..2813
                     /gene="TMEM220"
                     /note="transmembrane protein 220"
                     /db_xref="GeneID:388335"
                     /db_xref="HGNC:HGNC:33757"
     CDS             173..655
                     /gene="TMEM220"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1"
                     /codon_start=1
                     /product="transmembrane protein 220 isoform 1 precursor"
                     /protein_id="NP_001004313.1"
                     /db_xref="CCDS:CCDS32567.1"
                     /db_xref="GeneID:388335"
                     /db_xref="HGNC:HGNC:33757"
                     /translation="MAPALWRACNGLMAAFFALAALVQVNDPDAEVWVVVYTIPAVLTL
                     LVGLNPEVTGNVIWKSISAIHILFCTVWAVGLASYLLHRTQQNILHEEEGRELSGLVII
                     TAWIILCHSSSKNPVGGRIQLAIAIVITLFPFISWVYIYINKEMRSSWPTHCKTVI"
     sig_peptide     173..232
                     /gene="TMEM220"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    179..241
                     /gene="TMEM220"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6QAJ8.1);
                     transmembrane region"
     misc_feature    260..322
                     /gene="TMEM220"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6QAJ8.1);
                     transmembrane region"
     misc_feature    356..418
                     /gene="TMEM220"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6QAJ8.1);
                     transmembrane region"
     misc_feature    470..532
                     /gene="TMEM220"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6QAJ8.1);
                     transmembrane region"
     misc_feature    545..607
                     /gene="TMEM220"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6QAJ8.1);
                     transmembrane region"
     regulatory      655..660
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM220"
                     /note="hexamer: AATAAA"
     polyA_site      682
                     /gene="TMEM220"
                     /note="major polyA site"
     regulatory      2002..2007
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM220"
                     /note="hexamer: ATTAAA"
     polyA_site      2021
                     /gene="TMEM220"
     regulatory      2279..2284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM220"
                     /note="hexamer: TATAAA"
     polyA_site      2298
                     /gene="TMEM220"
ORIGIN
        1 cttcgctccc cgcccccggg cggagcgacg gccacggcag tgtccccaag gcaccgaaac
       61 cgaggcgggg gtctcggtcc ctccgcgcaa ggaggaaggc ggaccgtacg tggcaggact
      121 caccgccccg cacgtggcag gactcaccgc cccgcgccgt gttctccgag ccatggcgcc
      181 agcgctgtgg cgggcctgca acggactcat ggccgccttc ttcgcgctgg cggccttggt
      241 gcaggtaaat gacccagatg cagaggtgtg ggtggtggtg tacacaatcc ctgcagtact
      301 gaccctgctt gttggactta accctgaagt cacaggtaat gttatttgga aaagtatctc
      361 tgcaatacac atactctttt gtacggtgtg ggctgttggc ttggcgtcct acctcttgca
      421 tcgtacacaa cagaacatct tacatgagga agaaggcagg gagctgtctg gtctggtgat
      481 tattacagca tggattatcc tgtgccacag ttcctcaaag aatccagttg gtggaagaat
      541 tcaattggct attgccattg taatcacact tttcccattt atctcatggg tctacatata
      601 tattaacaag gaaatgcggt cctcttggcc aactcactgc aagacagtaa tttaaataaa
      661 ttcaagaact tcgtttttaa aatgaatatt ttcaatcaat tttttataaa cattagggga
      721 acaagccagg agtttatttc aggtaatttg ggctaatagt tttaaaactc caaataactt
      781 tttaagggtg catataattc gatgtaagat tggatgggac aagtaagaga tggtctgata
      841 ttttccagac gactttctgc agggtcttgt gtcataatgt agtggaaaag gctagagaat
      901 agaagtttaa aaatacgagt tctaacttaa ctttgtaact atgtaatttg ggcaaatata
      961 taaacctcct ggtggatatt tatctataaa ataggattaa tgccagatct acttacttac
     1021 acagtaacaa ggatcaatct agataatgta agaacactct gaagatataa agtgtttgga
     1081 aagattacgg agggctgccc atgattaaaa tagaggggag cagggattgg gtaatatact
     1141 gaaatagaca ttcaagagag ggctataccc cgatcttttt ttttttttaa gacagtccca
     1201 ctctattgcc caggctggag tgcagtggca tgatcatggc tcactgcagt cctgacctcc
     1261 cggggctcag gtgatcctcc tacctcagcc tcccaagaag ctacgactac aagtgtgcac
     1321 caccatgccc ggctaaattt ttttaaattt tttgtagagg cagggtttca ccgtgttgtc
     1381 caggctggtc ttgaattcct gagttcaagc gatctgtcca ccttggcctc ccaaagtgct
     1441 gggattacag gtgtgagcca ccatgcccag tccagcccta aactaatctt atccagagct
     1501 ggcatagtgc agtgaactaa aggagaactc tagatgaatc aaatgagcag gcatgtcttg
     1561 gaaagaaagg gaagctggat agaataaagg aattagggac caaacaagaa ggcaataggg
     1621 actataacta cattctaaat gagaaataag gtcaaaatct atatacattc tttataaatg
     1681 gatgtccaaa gtaatcctag ggaggagagc tttttttttt ttcatttcca ttttcattta
     1741 aaaatggata cttgattatt ggaaaactta caattgtgtt tggaacaact tgggtatttg
     1801 aatctaattt tccaattgca aattttatga tacctaaata cagataaagt atttccaatg
     1861 aaaatttagt gtccaaatga gtggggctat aaatgtaaaa tacactggat tttaaagaca
     1921 tggtagaaaa agaacagaaa atattttttg tattgattac atgttgaaac aatattttgg
     1981 ctataatggg ttaaatatac tattaaagtt gattttatct gtttctgttt acttttattt
     2041 acgtggctta cattgcattt ctgttggaca gtcctgtatt taagtatcta gatggcaaca
     2101 ttttacatac acaagcatca aactctgtgg tcagatactg ttttttctga tctaggaaag
     2161 agatctggga aatacttcac tcaaaaagaa cgagtagtgc cttccacagg ttaggagagt
     2221 gtaaatgagt ctggtagttt gtctattttt attgtcttta ttactatagt aaatattcta
     2281 taaatatttg ttaaaggagg tatgtgtatt ttgtttttgt tattggcaca gtggccactg
     2341 aatggtgaga aattatctaa gattaagact tgaatgagta aaaaggggga aaacaaatct
     2401 agttgatatt aaaacagtca aagtgaaact taagggtcag taaaatacac ataaaggatt
     2461 tgagttttcc agtgtatatt ttgcttacat atttgtggct tttataactc ctttagtatt
     2521 aataaactac tgaagtcaca tgcaaaaaaa aaacagactc atttgcaaat tccctgtggg
     2581 ctctatccat tgaccaagtc atgtttactt ctgtgcttaa agacagtaat gttcaagatg
     2641 tgctttcatc atgtatgcct ctcccatatc agactacgaa attatgtgac tattcatagt
     2701 ctctttcgca tcttcagtta agcatataaa aggcactttt ggtggaatag tcttttgaag
     2761 agtattaatg aaattgaatt taagtattat tattaaattt aatatttcta tta
//
LOCUS       NM_001004316            2526 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1),
            transcript variant 1, mRNA.
ACCESSION   NM_001004316
VERSION     NM_001004316.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2526)
  AUTHORS   Lin X, Wang J, Yun L, Jiang S, Li L, Chen X, Li Z, Lu Q, Zhang Y and
            Ma X.
  TITLE     Association between LEKR1-CCNL1 and IGSF21-KLHDC7A gene
            polymorphisms and diabetic retinopathy of type 2 diabetes mellitus
            in the Chinese Han population
  JOURNAL   J Gene Med 18 (10), 282-287 (2016)
   PUBMED   27607899
  REMARK    GeneRIF: Results suggest that LEKR1-CCNL1 and IGSF21-KLHDC7A gene
            polymorphisms influence the development of diabetic retinopathy
            (DR).
REFERENCE   2  (bases 1 to 2526)
  AUTHORS   Dong C, Della-Morte D, Beecham A, Wang L, Cabral D, Blanton SH,
            Sacco RL and Rundek T.
  TITLE     Genetic variants in LEKR1 and GALNT10 modulate sex-difference in
            carotid intima-media thickness: a genome-wide interaction study
  JOURNAL   Atherosclerosis 240 (2), 462-467 (2015)
   PUBMED   25898001
  REMARK    GeneRIF: SNPs in LEKR1 and GALNT10 modulate sex-difference in
            carotid intima-media thickness.
REFERENCE   3  (bases 1 to 2526)
  AUTHORS   Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C,
            Chasman DI, Esko T, Thorleifsson G, Albrecht E, Ang WQ, Corre T,
            Cousminer DL, Feenstra B, Franceschini N, Ganna A, Johnson AD,
            Kjellqvist S, Lunetta KL, McMahon G, Nolte IM, Paternoster L, Porcu
            E, Smith AV, Stolk L, Teumer A, Tsernikova N, Tikkanen E, Ulivi S,
            Wagner EK, Amin N, Bierut LJ, Byrne EM, Hottenga JJ, Koller DL,
            Mangino M, Pers TH, Yerges-Armstrong LM, Zhao JH, Andrulis IL,
            Anton-Culver H, Atsma F, Bandinelli S, Beckmann MW, Benitez J,
            Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H,
            Buring JE, Chang-Claude J, Chanock S, Chen J, Chenevix-Trench G,
            Collee JM, Couch FJ, Couper D, Coveillo AD, Cox A, Czene K, D'adamo
            AP, Smith GD, De Vivo I, Demerath EW, Dennis J, Devilee P,
            Dieffenbach AK, Dunning AM, Eiriksdottir G, Eriksson JG, Fasching
            PA, Ferrucci L, Flesch-Janys D, Flyger H, Foroud T, Franke L, Garcia
            ME, Garcia-Closas M, Geller F, de Geus EE, Giles GG, Gudbjartsson
            DF, Gudnason V, Guenel P, Guo S, Hall P, Hamann U, Haring R, Hartman
            CA, Heath AC, Hofman A, Hooning MJ, Hopper JL, Hu FB, Hunter DJ,
            Karasik D, Kiel DP, Knight JA, Kosma VM, Kutalik Z, Lai S,
            Lambrechts D, Lindblom A, Magi R, Magnusson PK, Mannermaa A, Martin
            NG, Masson G, McArdle PF, McArdle WL, Melbye M, Michailidou K,
            Mihailov E, Milani L, Milne RL, Nevanlinna H, Neven P, Nohr EA,
            Oldehinkel AJ, Oostra BA, Palotie A, Peacock M, Pedersen NL,
            Peterlongo P, Peto J, Pharoah PD, Postma DS, Pouta A, Pylkas K,
            Radice P, Ring S, Rivadeneira F, Robino A, Rose LM, Rudolph A,
            Salomaa V, Sanna S, Schlessinger D, Schmidt MK, Southey MC, Sovio U,
            Stampfer MJ, Stockl D, Storniolo AM, Timpson NJ, Tyrer J, Visser JA,
            Vollenweider P, Volzke H, Waeber G, Waldenberger M, Wallaschofski H,
            Wang Q, Willemsen G, Winqvist R, Wolffenbuttel BH, Wright MJ,
            Boomsma DI, Econs MJ, Khaw KT, Loos RJ, McCarthy MI, Montgomery GW,
            Rice JP, Streeten EA, Thorsteinsdottir U, van Duijn CM, Alizadeh BZ,
            Bergmann S, Boerwinkle E, Boyd HA, Crisponi L, Gasparini P, Gieger
            C, Harris TB, Ingelsson E, Jarvelin MR, Kraft P, Lawlor D, Metspalu
            A, Pennell CE, Ridker PM, Snieder H, Sorensen TI, Spector TD,
            Strachan DP, Uitterlinden AG, Wareham NJ, Widen E, Zygmunt M, Murray
            A, Easton DF, Stefansson K, Murabito JM and Ong KK.
  CONSRTM   Australian Ovarian Cancer Study; GENICA Network; kConFab; LifeLines
            Cohort Study; InterAct Consortium; Early Growth Genetics (EGG)
            Consortium
  TITLE     Parent-of-origin-specific allelic associations among 106 genomic
            loci for age at menarche
  JOURNAL   Nature 514 (7520), 92-97 (2014)
   PUBMED   25231870
REFERENCE   4  (bases 1 to 2526)
  AUTHORS   Urbanek M, Hayes MG, Armstrong LL, Morrison J, Lowe LP, Badon SE,
            Scheftner D, Pluzhnikov A, Levine D, Laurie CC, McHugh C, Ackerman
            CM, Mirel DB, Doheny KF, Guo C, Scholtens DM, Dyer AR, Metzger BE,
            Reddy TE, Cox NJ and Lowe WL Jr.
  CONSRTM   HAPO Study Cooperative Research Group
  TITLE     The chromosome 3q25 genomic region is associated with measures of
            adiposity in newborns in a multi-ethnic genome-wide association
            study
  JOURNAL   Hum Mol Genet 22 (17), 3583-3596 (2013)
   PUBMED   23575227
REFERENCE   5  (bases 1 to 2526)
  AUTHORS   Boraska V, Davis OS, Cherkas LF, Helder SG, Harris J, Krug I, Liao
            TP, Treasure J, Ntalla I, Karhunen L, Keski-Rahkonen A,
            Christakopoulou D, Raevuori A, Shin SY, Dedoussis GV, Kaprio J,
            Soranzo N, Spector TD, Collier DA and Zeggini E.
  TITLE     Genome-wide association analysis of eating disorder-related
            symptoms, behaviors, and personality traits
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 159B (7), 803-811 (2012)
   PUBMED   22911880
REFERENCE   6  (bases 1 to 2526)
  AUTHORS   Estrada K, Styrkarsdottir U, Evangelou E, Hsu YH, Duncan EL, Ntzani
            EE, Oei L, Albagha OM, Amin N, Kemp JP, Koller DL, Li G, Liu CT,
            Minster RL, Moayyeri A, Vandenput L, Willner D, Xiao SM,
            Yerges-Armstrong LM, Zheng HF, Alonso N, Eriksson J, Kammerer CM,
            Kaptoge SK, Leo PJ, Thorleifsson G, Wilson SG, Wilson JF, Aalto V,
            Alen M, Aragaki AK, Aspelund T, Center JR, Dailiana Z, Duggan DJ,
            Garcia M, Garcia-Giralt N, Giroux S, Hallmans G, Hocking LJ, Husted
            LB, Jameson KA, Khusainova R, Kim GS, Kooperberg C, Koromila T, Kruk
            M, Laaksonen M, Lacroix AZ, Lee SH, Leung PC, Lewis JR, Masi L,
            Mencej-Bedrac S, Nguyen TV, Nogues X, Patel MS, Prezelj J, Rose LM,
            Scollen S, Siggeirsdottir K, Smith AV, Svensson O, Trompet S,
            Trummer O, van Schoor NM, Woo J, Zhu K, Balcells S, Brandi ML,
            Buckley BM, Cheng S, Christiansen C, Cooper C, Dedoussis G, Ford I,
            Frost M, Goltzman D, Gonzalez-Macias J, Kahonen M, Karlsson M,
            Khusnutdinova E, Koh JM, Kollia P, Langdahl BL, Leslie WD, Lips P,
            Ljunggren O, Lorenc RS, Marc J, Mellstrom D, Obermayer-Pietsch B,
            Olmos JM, Pettersson-Kymmer U, Reid DM, Riancho JA, Ridker PM,
            Rousseau F, Slagboom PE, Tang NL, Urreizti R, Van Hul W, Viikari J,
            Zarrabeitia MT, Aulchenko YS, Castano-Betancourt M, Grundberg E,
            Herrera L, Ingvarsson T, Johannsdottir H, Kwan T, Li R, Luben R,
            Medina-Gomez C, Palsson ST, Reppe S, Rotter JI, Sigurdsson G, van
            Meurs JB, Verlaan D, Williams FM, Wood AR, Zhou Y, Gautvik KM,
            Pastinen T, Raychaudhuri S, Cauley JA, Chasman DI, Clark GR,
            Cummings SR, Danoy P, Dennison EM, Eastell R, Eisman JA, Gudnason V,
            Hofman A, Jackson RD, Jones G, Jukema JW, Khaw KT, Lehtimaki T, Liu
            Y, Lorentzon M, McCloskey E, Mitchell BD, Nandakumar K, Nicholson
            GC, Oostra BA, Peacock M, Pols HA, Prince RL, Raitakari O, Reid IR,
            Robbins J, Sambrook PN, Sham PC, Shuldiner AR, Tylavsky FA, van
            Duijn CM, Wareham NJ, Cupples LA, Econs MJ, Evans DM, Harris TB,
            Kung AW, Psaty BM, Reeve J, Spector TD, Streeten EA, Zillikens MC,
            Thorsteinsdottir U, Ohlsson C, Karasik D, Richards JB, Brown MA,
            Stefansson K, Uitterlinden AG, Ralston SH, Ioannidis JP, Kiel DP and
            Rivadeneira F.
  TITLE     Genome-wide meta-analysis identifies 56 bone mineral density loci
            and reveals 14 loci associated with risk of fracture
  JOURNAL   Nat Genet 44 (5), 491-501 (2012)
   PUBMED   22504420
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2526)
  AUTHORS   Grassi MA, Tikhomirov A, Ramalingam S, Below JE, Cox NJ and Nicolae
            DL.
  TITLE     Genome-wide meta-analysis for severe diabetic retinopathy
  JOURNAL   Hum Mol Genet 20 (12), 2472-2481 (2011)
   PUBMED   21441570
REFERENCE   8  (bases 1 to 2526)
  AUTHORS   Andersson EA, Harder MN, Pilgaard K, Pisinger C, Stancakova A,
            Kuusisto J, Grarup N, Faerch K, Poulsen P, Witte DR, Jorgensen T,
            Vaag A, Laakso M, Pedersen O and Hansen T.
  TITLE     The birth weight lowering C-allele of rs900400 near LEKR1 and CCNL1
            associates with elevated insulin release following an oral glucose
            challenge
  JOURNAL   PLoS One 6 (11), e27096 (2011)
   PUBMED   22073261
  REMARK    GeneRIF: birth weight lowering effect of the C-allele of rs900400
            located near LEKR1 and CCNL1 was replicated in the Danish
            population. Furthermore the C-allele was associated with increased
            insulin response following oral glucose stimulation
REFERENCE   9  (bases 1 to 2526)
  AUTHORS   Freathy RM, Mook-Kanamori DO, Sovio U, Prokopenko I, Timpson NJ,
            Berry DJ, Warrington NM, Widen E, Hottenga JJ, Kaakinen M, Lange LA,
            Bradfield JP, Kerkhof M, Marsh JA, Magi R, Chen CM, Lyon HN, Kirin
            M, Adair LS, Aulchenko YS, Bennett AJ, Borja JB, Bouatia-Naji N,
            Charoen P, Coin LJ, Cousminer DL, de Geus EJ, Deloukas P, Elliott P,
            Evans DM, Froguel P, Glaser B, Groves CJ, Hartikainen AL, Hassanali
            N, Hirschhorn JN, Hofman A, Holly JM, Hypponen E, Kanoni S, Knight
            BA, Laitinen J, Lindgren CM, McArdle WL, O'Reilly PF, Pennell CE,
            Postma DS, Pouta A, Ramasamy A, Rayner NW, Ring SM, Rivadeneira F,
            Shields BM, Strachan DP, Surakka I, Taanila A, Tiesler C,
            Uitterlinden AG, van Duijn CM, Wijga AH, Willemsen G, Zhang H, Zhao
            J, Wilson JF, Steegers EA, Hattersley AT, Eriksson JG, Peltonen L,
            Mohlke KL, Grant SF, Hakonarson H, Koppelman GH, Dedoussis GV,
            Heinrich J, Gillman MW, Palmer LJ, Frayling TM, Boomsma DI, Davey
            Smith G, Power C, Jaddoe VW, Jarvelin MR and McCarthy MI.
  CONSRTM   Genetic Investigation of ANthropometric Traits (GIANT) Consortium;
            Meta-Analyses of Glucose and Insulin-related traits Consortium;
            Wellcome Trust Case Control Consortium; Early Growth Genetics (EGG)
            Consortium
  TITLE     Variants in ADCY5 and near CCNL1 are associated with fetal growth
            and birth weight
  JOURNAL   Nat Genet 42 (5), 430-435 (2010)
   PUBMED   20372150
REFERENCE   10  (bases 1 to 2526)
  AUTHORS   Baranzini SE, Wang J, Gibson RA, Galwey N, Naegelin Y, Barkhof F,
            Radue EW, Lindberg RL, Uitdehaag BM, Johnson MR, Angelakopoulou A,
            Hall L, Richardson JC, Prinjha RK, Gass A, Geurts JJ, Kragt J,
            Sombekke M, Vrenken H, Qualley P, Lincoln RR, Gomez R, Caillier SJ,
            George MF, Mousavi H, Guerrero R, Okuda DT, Cree BA, Green AJ,
            Waubant E, Goodin DS, Pelletier D, Matthews PM, Hauser SL, Kappos L,
            Polman CH and Oksenberg JR.
  TITLE     Genome-wide association analysis of susceptibility and clinical
            phenotype in multiple sclerosis
  JOURNAL   Hum Mol Genet 18 (4), 767-778 (2009)
   PUBMED   19010793
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356539.9/ ENSP00000348936.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC106708.7, AC092993.3 and AC117392.4.
            On Sep 25, 2020 this sequence version replaced NM_001004316.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1). It should be noted
            that this exon combination lacks full-length transcript support; it
            is predicted based on partial human and orthologous transcript
            alignments.
            Sequence Note: The RefSeq transcript and protein were assembled by
            in silico methods based on transcript alignments and orthologous
            data.
FEATURES             Location/Qualifiers
     source          1..2526
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.31"
     gene            1..2526
                     /gene="LEKR1"
                     /note="leucine, glutamate and lysine rich 1"
                     /db_xref="GeneID:389170"
                     /db_xref="HGNC:HGNC:33765"
                     /db_xref="MIM:613536"
     CDS             69..2147
                     /gene="LEKR1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     leucine-, glutamate- and lysine-rich protein 1; protein
                     LEKR1"
                     /codon_start=1
                     /product="protein LEKR1 isoform 1"
                     /protein_id="NP_001004316.2"
                     /db_xref="GeneID:389170"
                     /db_xref="HGNC:HGNC:33765"
                     /db_xref="MIM:613536"
                     /translation="MDHHIPMHALPEEIQKMLPEEKVCKYCGVSYLILHEFKAMEEKVK
                     AMEKEMKFYQGSVDREKRLQEKLHSLSQELEQYKIDNKSKTERIYDVGMQLKSQQNEFQ
                     KVKKQLSHLQDELKIKYRQSYIFSQRLSEYKYFWNKTLSLLTFTKRELTSIKNEVYDNY
                     QNWTSLKGAVFLQIKSISETALTEIDILNKSLTVSQRNKVCLEKEMKNLKLLSDAAILR
                     SQQIRTSRQQEVNLQTRCYDLQKEVLDLQCLVEALGLKLQKAVTEMDNYKEMLMNKSNE
                     ADDCQRELKKLKFESIISESQHTMLLKEKEDSLMTCQQIYKALQEELTVKEKQEEDIKR
                     RINLAENELEITKTLLNQTREEVLTLKNERELMLISHQKSIEQLQETLRQKLLSDDNWK
                     EKIEAELAKERAQHLVEFEEQALLFKEETKLQLDIEKEKHQDVIQKYKKEQEELQMKIS
                     DLITGATRDLRQEVTTLKEKLHKSHIRYTEESNSKEKEIENLKNLVAEFESRLKKEIDS
                     NDSVSENLRKEMEQKSDELKRVMLAQTQLIEQFNQSQEENTFLQETVRRECEERFELTE
                     ALSQAREQLLELSKLRGSLPFSPCSLSKGSLTSPAAAVSNHGERSLARLNSEKGIQIPN
                     LRGVSKPTTFPTSDKPKRVRSGVPILPQPHPPRGGASSANETRQRLAAILRRRRSQQ"
ORIGIN
        1 acacccgtcc tagtcgaagt cgagatttcc tttggcttca aagctctctc accatatttt
       61 gggaagttat ggatcatcac attcccatgc atgcgttgcc tgaagaaatc caaaagatgt
      121 tgcctgaaga aaaagtttgt aagtactgtg gagtcagcta tctaattctt catgaattta
      181 aggctatgga agaaaaagtg aaagcaatgg aaaaagagat gaaattttat caaggaagtg
      241 tagatcgtga aaagagactt caagaaaagc tgcattctct tagccaagaa cttgaacagt
      301 acaaaattga caacaaatcc aaaacagaaa gaatttacga tgtaggcatg cagttaaaaa
      361 gtcaacaaaa tgaatttcag aaagtaaaga aacaactgag tcatttgcaa gatgagctaa
      421 aaattaaata tagacaatca tacatcttca gtcaaagatt gtcagagtac aaatatttct
      481 ggaataagac tctttcatta cttactttta ctaaaaggga actaaccagt attaaaaatg
      541 aagtatatga taattaccaa aactggactt cattgaaagg agcagttttt ctacaaatta
      601 aatctataag tgaaacagcc ttgacagaaa tagacatact gaataaaagt ttgacagtat
      661 cccagagaaa taaagtatgc cttgaaaagg aaatgaaaaa tctgaaattg ttgtcagatg
      721 cagccatatt gagatctcag cagattcgga catctagaca acaggaagta aacttgcaaa
      781 ccagatgcta tgatttgcaa aaagaagtac tagatttaca atgtctagta gaggcacttg
      841 gattaaaact tcagaaggcg gtgacagaga tggacaacta taaagaaatg cttatgaata
      901 aatctaatga agctgatgac tgtcaaagag aacttaaaaa actgaagttt gaatccatta
      961 tttctgagtc acagcatact atgctgctta aggaaaaaga agactcttta atgacttgtc
     1021 aacagatata taaagcatta caggaagagc tgactgtgaa agaaaagcaa gaagaagaca
     1081 taaagagaag aattaacctt gcagaaaatg aactggagat aaccaaaact cttctgaatc
     1141 agacaaggga agaggtttta acactgaaaa atgaaaggga attgatgctg atttcacatc
     1201 agaaaagcat cgagcagctg caagaaaccc ttagacagaa gctgctgagt gatgataact
     1261 ggaaggagaa gattgaagca gaacttgcca aggaaagggc ccaacacttg gttgaatttg
     1321 aagagcaagc tcttctcttt aaggaagaaa caaaattgca acttgatatt gaaaaagaaa
     1381 aacaccaaga tgtaatccaa aagtataaga aagaacaaga ggaactacaa atgaagatat
     1441 ctgacttaat cacaggcgct acaagagatc taaggcagga agtgaccact cttaaagaaa
     1501 aacttcacaa atcccatatt cggtacactg aagaatctaa ttcaaaggaa aaagaaattg
     1561 aaaatcttaa aaatttggtt gcagaatttg aatctcgctt gaagaaggaa attgacagta
     1621 atgattcagt ttcagaaaac ttgaggaagg aaatggaaca gaagtcggat gaactgaaaa
     1681 gagtaatgct ggctcaaaca caactgatag agcaatttaa ccagtcccag gaagagaata
     1741 cttttcttca ggagacagtg cgtagagaat gtgaagaacg ctttgaactg acagaggctt
     1801 tgagtcaagc cagagaacag ctcctggagc tcagtaagct tcgtggaagt ttaccattct
     1861 caccgtgttc cctcagcaag ggcagcctaa cctcccctgc tgcagcagtc agtaatcatg
     1921 gagagagaag ccttgcaaga ctgaactctg aaaaaggaat ccaaattccc aacctgcgcg
     1981 gggtgtcaaa acccaccact ttcccaacct cagataagcc gaagagggtt agatcaggcg
     2041 tgcccattct cccccagcca catcctccca ggggtggagc atcttcagca aatgagacta
     2101 gacagagact ggctgccatt cttaggagaa ggcggagtca gcaatgatcc aaaatgagga
     2161 gcaggaagct ccctacagcg tgcacgctct ttcagagagt gccaggaatt cactgtaact
     2221 gagaatgaca atgataaaat tattttcaca gatcaggaag gcatacctat agatgtattt
     2281 aacaaaagac tgtaaaaagc tggaaaattg tgaagcctta tttttcaaga gggttttgat
     2341 agagtaacag atcattaagt tgttggtatt ccagaggtcc gatttctatg tttatgttgg
     2401 aatgtgctct atgaatatag ccttttagag atcacaggta aaatttttca cccataacat
     2461 cttttcaatt tcttgcgcca ctacaagcag atatatttcc acaaaaaaat agattgtttg
     2521 agattt
//
LOCUS       NM_001004317            5446 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens lin-28 homolog B (LIN28B), transcript variant 1, mRNA.
ACCESSION   NM_001004317
VERSION     NM_001004317.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5446)
  AUTHORS   Ma B, Wei X, Zhou S and Yang M.
  TITLE     MCTS1 enhances the proliferation of laryngeal squamous cell
            carcinoma via promoting OTUD6B-1 mediated LIN28B deubiquitination
  JOURNAL   Biochem Biophys Res Commun 678, 128-134 (2023)
   PUBMED   37634410
  REMARK    GeneRIF: MCTS1 enhances the proliferation of laryngeal squamous cell
            carcinoma via promoting OTUD6B-1 mediated LIN28B deubiquitination.
REFERENCE   2  (bases 1 to 5446)
  AUTHORS   Lynch-Sutherland CF, McDougall LI, Stockwell PA, Almomani SN, Weeks
            RJ, Ludgate JL, Gamage TKJB, Chatterjee A, James JL, Eccles MR and
            Macaulay EC.
  TITLE     The transposable element-derived transcript of LIN28B has a
            placental origin and is not specific to tumours
  JOURNAL   Mol Genet Genomics 298 (5), 1045-1058 (2023)
   PUBMED   37269361
  REMARK    GeneRIF: The transposable element-derived transcript of LIN28B has a
            placental origin and is not specific to tumours.
REFERENCE   3  (bases 1 to 5446)
  AUTHORS   Sugiura K, Masuike Y, Suzuki K, Shin AE, Sakai N, Matsubara H,
            Otsuka M, Sims PA, Lengner CJ and Rustgi AK.
  TITLE     LIN28B promotes cell invasion and colorectal cancer metastasis via
            CLDN1 and NOTCH3
  JOURNAL   JCI Insight 8 (14), e167310 (2023)
   PUBMED   37318881
  REMARK    GeneRIF: LIN28B promotes cell invasion and colorectal cancer
            metastasis via CLDN1 and NOTCH3. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5446)
  AUTHORS   Guan R, Lian T, Zhou BR, Wheeler D and Bai Y.
  TITLE     Structural mechanism of LIN28B nucleosome targeting by OCT4
  JOURNAL   Mol Cell 83 (12), 1970-1982 (2023)
   PUBMED   37327775
  REMARK    GeneRIF: Structural mechanism of LIN28B nucleosome targeting by
            OCT4.
REFERENCE   5  (bases 1 to 5446)
  AUTHORS   Gewalt T, Noh KW and Meder L.
  TITLE     The role of LIN28B in tumor progression and metastasis in solid
            tumor entities
  JOURNAL   Oncol Res 31 (2), 101-115 (2023)
   PUBMED   37304235
  REMARK    GeneRIF: The role of LIN28B in tumor progression and metastasis in
            solid tumor entities. Review article Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5446)
  AUTHORS   Chang TC, Zeitels LR, Hwang HW, Chivukula RR, Wentzel EA, Dews M,
            Jung J, Gao P, Dang CV, Beer MA, Thomas-Tikhonenko A and Mendell JT.
  TITLE     Lin-28B transactivation is necessary for Myc-mediated let-7
            repression and proliferation
  JOURNAL   Proc Natl Acad Sci U S A 106 (9), 3384-3389 (2009)
   PUBMED   19211792
  REMARK    GeneRIF: highlight an important role for Lin-28B in Myc-driven
            cellular phenotypes
REFERENCE   7  (bases 1 to 5446)
  AUTHORS   Heo I, Joo C, Cho J, Ha M, Han J and Kim VN.
  TITLE     Lin28 mediates the terminal uridylation of let-7 precursor MicroRNA
  JOURNAL   Mol Cell 32 (2), 276-284 (2008)
   PUBMED   18951094
REFERENCE   8  (bases 1 to 5446)
  AUTHORS   Gudbjartsson DF, Walters GB, Thorleifsson G, Stefansson H,
            Halldorsson BV, Zusmanovich P, Sulem P, Thorlacius S, Gylfason A,
            Steinberg S, Helgadottir A, Ingason A, Steinthorsdottir V,
            Olafsdottir EJ, Olafsdottir GH, Jonsson T, Borch-Johnsen K, Hansen
            T, Andersen G, Jorgensen T, Pedersen O, Aben KK, Witjes JA, Swinkels
            DW, den Heijer M, Franke B, Verbeek AL, Becker DM, Yanek LR, Becker
            LC, Tryggvadottir L, Rafnar T, Gulcher J, Kiemeney LA, Kong A,
            Thorsteinsdottir U and Stefansson K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat Genet 40 (5), 609-615 (2008)
   PUBMED   18391951
REFERENCE   9  (bases 1 to 5446)
  AUTHORS   Lettre G, Jackson AU, Gieger C, Schumacher FR, Berndt SI, Sanna S,
            Eyheramendy S, Voight BF, Butler JL, Guiducci C, Illig T, Hackett R,
            Heid IM, Jacobs KB, Lyssenko V, Uda M, Boehnke M, Chanock SJ, Groop
            LC, Hu FB, Isomaa B, Kraft P, Peltonen L, Salomaa V, Schlessinger D,
            Hunter DJ, Hayes RB, Abecasis GR, Wichmann HE, Mohlke KL and
            Hirschhorn JN.
  CONSRTM   Diabetes Genetics Initiative; FUSION; KORA; Prostate, Lung
            Colorectal and Ovarian Cancer Screening Trial; Nurses' Health Study;
            SardiNIA
  TITLE     Identification of ten loci associated with height highlights new
            biological pathways in human growth
  JOURNAL   Nat Genet 40 (5), 584-591 (2008)
   PUBMED   18391950
REFERENCE   10  (bases 1 to 5446)
  AUTHORS   Guo Y, Chen Y, Ito H, Watanabe A, Ge X, Kodama T and Aburatani H.
  TITLE     Identification and characterization of lin-28 homolog B (LIN28B) in
            human hepatocellular carcinoma
  JOURNAL   Gene 384, 51-61 (2006)
   PUBMED   16971064
  REMARK    GeneRIF: These findings strongly implicate a critical role of LIN28B
            during development and tumorigenesis and suggest a possible novel
            mechanism.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ127228.1, BC137526.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2142853 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000345080.5/ ENSP00000344401.4
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DQ127228.1 and AW674597.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001004317.3.
            Summary: The protein encoded by this gene belongs to the lin-28
            family, which is characterized by the presence of a cold-shock
            domain and a pair of CCHC zinc finger domains. This gene is highly
            expressed in testis, fetal liver, placenta, and in primary human
            tumors and cancer cell lines. It is negatively regulated by
            microRNAs that target sites in the 3' UTR, and overexpression of
            this gene in primary tumors is linked to the repression of let-7
            family of microRNAs and derepression of let-7 targets, which
            facilitates cellular transformation. [provided by RefSeq, Jun
            2012].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5446
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q16.3-q21"
     gene            1..5446
                     /gene="LIN28B"
                     /gene_synonym="CSDD2"
                     /note="lin-28 homolog B"
                     /db_xref="GeneID:389421"
                     /db_xref="HGNC:HGNC:32207"
                     /db_xref="MIM:611044"
     misc_feature    64..66
                     /gene="LIN28B"
                     /gene_synonym="CSDD2"
                     /note="upstream in-frame stop codon"
     CDS             145..897
                     /gene="LIN28B"
                     /gene_synonym="CSDD2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein lin-28 homolog B; Lin-28.2; lin-28B"
                     /codon_start=1
                     /product="protein lin-28 homolog B isoform 1"
                     /protein_id="NP_001004317.1"
                     /db_xref="CCDS:CCDS34504.1"
                     /db_xref="GeneID:389421"
                     /db_xref="HGNC:HGNC:32207"
                     /db_xref="MIM:611044"
                     /translation="MAEGGASKGGGEEPGKLPEPAEEESQVLRGTGHCKWFNVRMGFGF
                     ISMINREGSPLDIPVDVFVHQSKLFMEGFRSLKEGEPVEFTFKKSSKGLESIRVTGPGG
                     SPCLGSERRPKGKTLQKRKPKGDRCYNCGGLDHHAKECSLPPQPKKCHYCQSIMHMVAN
                     CPHKNVAQPPASSQGRQEAESQPCTSTLPREVGGGHGCTSPPFPQEARAEISERSGRSP
                     QEASSTKSSIAPEEQSKKGPSVQKRKKT"
     misc_feature    145..222
                     /gene="LIN28B"
                     /gene_synonym="CSDD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZN17.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    304..306
                     /gene="LIN28B"
                     /gene_synonym="CSDD2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6ZN17.1); phosphorylation site"
     misc_feature    430..432
                     /gene="LIN28B"
                     /gene_synonym="CSDD2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6ZN17.1); phosphorylation site"
     misc_feature    436..522
                     /gene="LIN28B"
                     /gene_synonym="CSDD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZN17.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    457..459
                     /gene="LIN28B"
                     /gene_synonym="CSDD2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6ZN17.1); phosphorylation site"
     misc_feature    472..474
                     /gene="LIN28B"
                     /gene_synonym="CSDD2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6ZN17.1); phosphorylation site"
     misc_feature    478..519
                     /gene="LIN28B"
                     /gene_synonym="CSDD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZN17.1);
                     Region: Bipartite nuclear localization signal.
                     /evidence=ECO:0000269|PubMed:22118463"
     misc_feature    649..894
                     /gene="LIN28B"
                     /gene_synonym="CSDD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZN17.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    751..753
                     /gene="LIN28B"
                     /gene_synonym="CSDD2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6ZN17.1); phosphorylation site"
     misc_feature    859..894
                     /gene="LIN28B"
                     /gene_synonym="CSDD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZN17.1);
                     Region: Nucleolar localization signal.
                     /evidence=ECO:0000269|PubMed:22118463"
     regulatory      5421..5426
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIN28B"
                     /gene_synonym="CSDD2"
                     /note="hexamer: AATAAA"
     polyA_site      5446
                     /gene="LIN28B"
                     /gene_synonym="CSDD2"
                     /note="major polyA site"
ORIGIN
        1 caaaagaagg aaagcacatt agaccatgcg agctaaattt gtgatcgcac aaaatcaaga
       61 tgttagattg atgcagaaga tcactccgtt ccaaagggaa agttttcatc tcacgagttt
      121 ggagctgagg gcccgtgggg caacatggcc gaaggcgggg ctagcaaagg tggtggagaa
      181 gagcccggga agctgccgga gccggcagag gaggaatccc aggttttgcg cggaactggc
      241 cactgtaagt ggttcaatgt gcgcatggga tttggattca tctccatgat aaaccgagag
      301 ggaagcccct tggatattcc agtcgatgta tttgtacacc aaagcaaact attcatggaa
      361 ggatttagaa gcctaaaaga aggagaacca gtggaattca catttaaaaa atcttccaaa
      421 ggccttgagt caatacgggt aacaggacct ggtgggagcc cctgtttagg aagtgaaaga
      481 agacccaaag ggaagacact acagaaaaga aaaccaaagg gagatagatg ctacaactgt
      541 ggtggccttg atcatcatgc taaggaatgt agtctacctc ctcagccaaa gaagtgccat
      601 tactgtcaga gcatcatgca catggtggca aactgcccac ataaaaatgt tgcacagcca
      661 cccgcgagtt ctcagggaag acaggaagca gaatcccagc catgcacttc aactctccct
      721 cgagaagtgg gaggcgggca tggctgtaca tcaccaccgt ttcctcagga ggctagggca
      781 gagatctcag aacggtcagg caggtcacct caagaagctt cctccacgaa gtcatctata
      841 gcaccagaag agcaaagcaa aaaggggcct tcagttcaaa aaaggaaaaa gacataacag
      901 gtcttcttca tatgttcttt cctttacccg gttgcaaagt ctacctcatg caagtatagg
      961 ggaacagtat ttcacaagca gtagctgacc tgggatttta actactattg gggaactgtg
     1021 aattttttaa acagacaaat cactctaagc aaattacatt tgagcagggt gtcatgtttt
     1081 atgttaattc agagaataag atactatgtc tgtcaatatg tgcatgtgtg agagggagag
     1141 agcctgagtc tgtgtgtgta catgaggatt tttatatagg aatgtagaca catatataaa
     1201 gaggctttgt ctttatatat ttgtgtatag atcaaagcac acaccctctc tcatataatt
     1261 ggatatttcc aagaattgaa aacccatgtg aagcattata gatagtttta aatttaaccc
     1321 actggagttt tcttgaaata ccacttcttt tatattatat aaaactaaaa acacgactgt
     1381 taccttttgt gtgaaccaaa ggatacttca gatctcagag ctgccaatta tggggtacta
     1441 aaggttttta agacatccag ttctcccgaa tttgggattg cctctttttc ttgaaatctc
     1501 tggagtagta atttttttcc cccttttttg aaggcagtac cttaacttca tatgcctctg
     1561 actgccataa gcttttttga ttctgggata acataactcc agaaaagaca atgaatgtgt
     1621 aatttgggcc gatatttcac tgttttaaat tctgtgttta attgtaaaat tagatgccta
     1681 ttaagagaaa tgaaggggag gatcatctta gtggcttgtt ttcagtagta ttttaatatc
     1741 agcttcttgt aaccttttcc atgttgtgag ggttgtaagg gattgtgtgg caacagcagc
     1801 ttcccttggc taactcaatc ttctacccat tgcttagagc agggagccct ccttatttac
     1861 tactgaagac cttagagaac tccaattgtt tggcatatat ttttggtggt ggtttttatt
     1921 cctcctggag agttatctaa tttgtttcta aaacaaacaa gcagcaaaga aatgaattaa
     1981 atactggggt tgagaattaa aattaagtgg atgttcacag ttgcccaata tatatgacct
     2041 gcaaatgata cgaaaaagtg cagcatttag tggcagttaa caagagtgac aagcctgggg
     2101 cagaggtacc aaacctctcc caccagagag ctagaagtat tttatacagt aactttgatc
     2161 ttatggaagt gaccttcaat gcttattctg aagtaaccta tatggtggat acaggatgaa
     2221 cattcagtgc cagggagaat cttctcaggt tggttctcgt tagagtgata aactggctag
     2281 gggccatagt attggtcctg ttaggtttcg gtcatggaaa aaaaaattat tttggggtca
     2341 tcctggctct agatgttatg ggcaaatttc tgaaacatct gcaagaaggt accagttaat
     2401 tatagtgctt aatattggga ataagattaa gcattataat tataatgtat gggcctgttg
     2461 gtgtaagctc agataattaa ataaaaatag catgactcaa atgagacata ttctgctgaa
     2521 cagtttctac ttcctctccc gcctgtcctg tcatgggaga cgtgtatagt tgctgctgtt
     2581 tcagcaaacc accataagac gaaaatgcct caggttgggt tgccagtcct ttacaactca
     2641 gcttgaattt cacaacagtg attgtgagaa tctgcgtggt atacactgaa atatcggtgt
     2701 gctgtgatgc aaagcttacc tttgacgata ttgaatgtga tatagctgta gagaagtact
     2761 tccttgcctt atgtgaggat ttcaaactta tttaaattat gtagacaaat caaagtggca
     2821 ttgcttaatt tttagcaggc ataataagca agttaacagt aaaatgcaaa acatgataag
     2881 cgttgctcaa tttttagcag gtataataag caggttaaca gtaaaaatgc aaaacatgat
     2941 agataagtca ctttgaaaat tcaaaccaaa gttccttcac cttatggaaa taggaaatta
     3001 tggacttcaa aattggacac ttcctgttta caaaaagaaa ttcagagcta aaatcatggt
     3061 aaaaaaaaat agaaacactt gagaactatg gtctttatgg gtgcaatttg aaatcctttt
     3121 catcatctta ccagactaaa ctaagagcac ataccaaacc tatcttatgg ttgaaagttg
     3181 gggtttattt tttatatgag aatattatca ctattacata acatactcag gacaaagaac
     3241 tttgctcagg gaacatacca tgtaatattt ttgttgtttc tttacagact agtctacagt
     3301 cctgcttact caaaacaaac caaataactt atacctttat ataagtatta tgtactgatg
     3361 atagtaacta cctctgagtt tgacacagat caaaattttt gaatatcaga tatcagttat
     3421 cctattttta tttcatgtga aaactcctct aaagcagatt ccctcaactc tgtgcatatg
     3481 tgaatatcac tgatgtgaac acattgttca tttacatagg taaaatatta ctctgtttac
     3541 agcaaaaggc tacctcatag ttgatacata gcacacctgt atgtatgctg ttccagcctt
     3601 acaggtggct gataattctc tggtacagaa cctttttatc tgtattataa atagcaattc
     3661 acaactgcat gtttctgaca aacacttgtg aataatgaag catctcgttt tagttagcaa
     3721 agtctccaaa catttcctta aaataatcat gtatttagtt taaagaatta tgggcactgt
     3781 tcaacttaag caaaacagaa cacggaagca gtcttagaag caccactttg cccagaggtg
     3841 gaggttggaa ggggtagcag ggagaggggt tggtgtatgc aggtattcat gctaggcaaa
     3901 gagtttaaaa gacgccaatg tccttcattt actgtctgtg ctgccctgaa gccaagcgta
     3961 ttgcagcatt atagccccag gcacataact aactagcact ggcttgccaa ggaatgaaca
     4021 tgcaatgcca ttactagcta ttgagggaaa agggtctgtg tgaagcatca ctttgcaggg
     4081 attactaatg gtggggcagc aggtctgtga attaagttat ctcttgacct caccctcatg
     4141 tcaacacaaa tgtaattcct aaacaagatg cattgccagt ctcttagccc tgtaagctga
     4201 tcttttgcta catggcagac tataatgaaa acatttttat acttgggttt ctagtcttca
     4261 ctagaaggcc ttggatgtat ttttgcagtt gaaagattta gaaagatttt tacctgctta
     4321 taacttggaa gtttagagtg caatgtaaga aaaaagatca agaaatgtca tgttattagc
     4381 atcagtccac ctccaatatt gccgatactt tttttattct ggctcagttt tattttgcac
     4441 cagtgcggcc ccaagttact gctggttgta tttagtttgt gaataggagc ccataagtgt
     4501 taatagactt tgtaacattc actataagat gaattataca ggacatggga aatctcatta
     4561 agtcttaaag ttaatttaaa ttaatttatc tgttttctct aagaaatgtt tatcataaaa
     4621 tatatatgtg tatttcccct ttggttataa aatttgggaa agtatgtaca agtgcagctg
     4681 cactgacttt aattttctag atgtcttaat gagatttatt tgttttagag aagaacatct
     4741 tgttaaaagc atcaaactct gtcttacata gctgtcaaca gcctctttaa gatgtggtgg
     4801 ttgtatgatc tgtgtcttaa ttgttcagtt agagtgagaa gttgacctat gattcatttt
     4861 taaattttat atttggaaca aagctgcaag ttatggtaaa gtactgtact gtgagaagta
     4921 ttatgatatt taatgcatct gtggcttaac acttgtgaga gttaccagct tgaaaatgat
     4981 ggtgttgact acctcttgaa tcacatctat caaccactgg cacctaccac caagctggct
     5041 tcaattagta tgtgttgctt tttggtatta acaactaacc gtactagaga ccaaagtgaa
     5101 ccctgatttt tatatgtctt taataatggt gttttatcta gtgtttttaa attatcctgt
     5161 gtagtattta gattacctca ttgtccattt tgactcatgt tgtttacaag tgaaaataaa
     5221 aacacttgaa ctgtatgttt ttaaaagaca aaaaaggggt agatgtttgg aatgcgtttc
     5281 actcgcatgc agtcatctgg agggactgaa gcactgtttg cctttctgta cactctgggt
     5341 tttatattct catttcatgc ctaatgtctt attctgtcaa ttatggatat gttgaggttt
     5401 aaaaaaatta cttgattaaa aataaaacat ataacgttgg cattta
//
LOCUS       NM_001004318            2903 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens acid phosphatase 7, tartrate resistant (putative)
            (ACP7), transcript variant 1, mRNA.
ACCESSION   NM_001004318
VERSION     NM_001004318.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2903)
  AUTHORS   Ma,N., Zhang,X., Yu,F., Gao,P., Fan,Q., Liu,L. and Liu,D.
  TITLE     Role of IFN-ks, IFN-ks related genes and the DEPDC5 gene in
            Hepatitis B virus-related liver disease
  JOURNAL   J Viral Hepat 21 (7), e29-e38 (2014)
   PUBMED   25032264
  REMARK    GeneRIF: PAPL, IL10RB and DEPDC5 polymorphisms have an impact on
            progression of hepatitis B virus-related liver disease.
REFERENCE   2  (bases 1 to 2903)
  AUTHORS   Sim X, Ong RT, Suo C, Tay WT, Liu J, Ng DP, Boehnke M, Chia KS, Wong
            TY, Seielstad M, Teo YY and Tai ES.
  TITLE     Transferability of type 2 diabetes implicated loci in multi-ethnic
            cohorts from Southeast Asia
  JOURNAL   PLoS Genet 7 (4), e1001363 (2011)
   PUBMED   21490949
REFERENCE   3  (bases 1 to 2903)
  AUTHORS   Flanagan JU, Cassady AI, Schenk G, Guddat LW and Hume DA.
  TITLE     Identification and molecular modeling of a novel, plant-like, human
            purple acid phosphatase
  JOURNAL   Gene 377, 12-20 (2006)
   PUBMED   16793224
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.257723.1,
            SRR1803613.221760.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2145893 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000331256.10/ ENSP00000327557.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK131245.1, AC011443.6 and BC142613.1.
            On May 17, 2019 this sequence version replaced NM_001004318.2.
            Summary: Purple acid phosphatases (PAPs), including PAPL, are a
            family of binuclear metallohydrolases that have been identified in
            plants, animals, and fungi (Flanagan et al., 2006 [PubMed
            16793224]).[supplied by OMIM, Mar 2008].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2903
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..2903
                     /gene="ACP7"
                     /gene_synonym="PAPL; PAPL1"
                     /note="acid phosphatase 7, tartrate resistant (putative)"
                     /db_xref="GeneID:390928"
                     /db_xref="HGNC:HGNC:33781"
                     /db_xref="MIM:610490"
     misc_feature    158..160
                     /gene="ACP7"
                     /gene_synonym="PAPL; PAPL1"
                     /note="upstream in-frame stop codon"
     CDS             212..1528
                     /gene="ACP7"
                     /gene_synonym="PAPL; PAPL1"
                     /EC_number="3.1.3.2"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; iron/zinc purple acid phosphatase-like protein; acid
                     phosphatase type 7; purple acid phosphatase long form 1"
                     /codon_start=1
                     /product="acid phosphatase type 7 isoform 1 precursor"
                     /protein_id="NP_001004318.2"
                     /db_xref="CCDS:CCDS33018.1"
                     /db_xref="GeneID:390928"
                     /db_xref="HGNC:HGNC:33781"
                     /db_xref="MIM:610490"
                     /translation="MHPLPGYWSCYCLLLLFSLGVQGSLGAPSAAPEQVHLSYPGEPGS
                     MTVTWTTWVPTRSEVQFGLQPSGPLPLRAQGTFVPFVDGGILRRKLYIHRVTLRKLLPG
                     VQYVYRCGSAQGWSRRFRFRALKNGAHWSPRLAVFGDLGADNPKAVPRLRRDTQQGMYD
                     AVLHVGDFAYNLDQDNARVGDRFMRLIEPVAASLPYMTCPGNHEERYNFSNYKARFSMP
                     GDNEGLWYSWDLGPAHIISFSTEVYFFLHYGRHLVQRQFRWLESDLQKANKNRAARPWI
                     ITMGHRPMYCSNADLDDCTRHESKVRKGLQGKLYGLEDLFYKYGVDLQLWAHEHSYERL
                     WPIYNYQVFNGSREMPYTNPRGPVHIITGSAGCEERLTPFAVFPRPWSAVRVKEYGYTR
                     LHILNGTHIHIQQVSDDQDGKIVDDVWVVRPLFGRRMYL"
     sig_peptide     212..289
                     /gene="ACP7"
                     /gene_synonym="PAPL; PAPL1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    842..844
                     /gene="ACP7"
                     /gene_synonym="PAPL; PAPL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6ZNF0.2); glycosylation site"
     misc_feature    1259..1261
                     /gene="ACP7"
                     /gene_synonym="PAPL; PAPL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6ZNF0.2); glycosylation site"
     misc_feature    1421..1423
                     /gene="ACP7"
                     /gene_synonym="PAPL; PAPL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6ZNF0.2); glycosylation site"
     regulatory      2865..2870
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACP7"
                     /gene_synonym="PAPL; PAPL1"
                     /note="hexamer: AATAAA"
     polyA_site      2903
                     /gene="ACP7"
                     /gene_synonym="PAPL; PAPL1"
                     /note="major polyA site"
ORIGIN
        1 agaggcgcgt gcgggcagcc ggcgcccccg aggcacctgg ataaccaccc atcttgaagg
       61 agacctccct gccctgcctc tgttgtcccc cagagcactg cctgatcatc ctctgttccc
      121 catcctccca gcccttcctg ctgtacctgt ggggagctga tctcctcagt ccccctgctt
      181 ttccccggtc tgccatcacc accccaccac catgcacccc cttcctggct actggtcctg
      241 ttactgtcta ctcctgctat tctccttggg agtccagggg tccctggggg ctcccagcgc
      301 tgccccagag caagtccatc tgtcttaccc aggtgagcca ggctccatga ctgtaacttg
      361 gaccacatgg gtcccaaccc gctctgaagt gcaattcggg ttgcagccgt cggggcccct
      421 gcccctccgc gcccagggca ccttcgtccc ctttgtggac gggggcattc tccggcggaa
      481 gctctacata caccgagtca cgcttcgcaa gctgctgcca ggggttcagt atgtttatcg
      541 ctgtggcagt gcgcagggct ggagccgtcg gttccgcttc agggccctca agaatggggc
      601 ccactggagt ccccgtctgg ctgtgtttgg agacctgggg gctgacaacc cgaaggccgt
      661 cccccggctg cgcagggaca cccagcaggg catgtatgac gccgttctcc atgtgggaga
      721 ctttgcctac aacctggatc aggacaacgc ccgtgttggg gataggttca tgcggctcat
      781 tgaacccgtg gctgccagcc tgccgtacat gacatgccct gggaatcatg aagaacgcta
      841 caacttctct aactacaagg ctcgcttcag catgccgggg gataatgagg gcctgtggta
      901 cagctgggat ctgggtcccg cccacatcat ctccttctcc accgaggtct atttctttct
      961 ccattatggc cgccacttgg tacagaggca gtttcgctgg ctggagagcg acctccagaa
     1021 agccaataag aaccgggcag cccggccgtg gatcatcact atggggcacc ggcccatgta
     1081 ctgctccaac gcagatctgg acgactgcac acgacatgaa agcaaggtcc gcaaaggcct
     1141 ccaaggcaag ctgtacgggt tggaggatct tttctacaaa tatggagtgg atctgcagct
     1201 gtgggctcat gagcactcgt atgaacgact gtggccaatt tacaactacc aggtatttaa
     1261 cggcagccga gagatgccct acaccaaccc gcgagggcct gtccacatca tcacaggatc
     1321 tgctggctgt gaggagcggc tgacgccctt tgctgtcttc ccgaggccct ggagtgccgt
     1381 gcgtgtgaag gagtacgggt atacgcggct gcacatcctc aacgggaccc acatccacat
     1441 ccagcaggtg tcggacgacc aggatgggaa gatcgtagat gatgtctggg tggtgagacc
     1501 cctgtttggc cggaggatgt acctctaggg atggcggcag ctctcctcca gaagcctagg
     1561 ttttgccgcc ttggctgctg tgaccagaaa ctgcccaggc ctgggtgggg agttgggtgg
     1621 gccctgactc ccctgccctc cagaggcccc atgtagggta catgcagccc tatggagctg
     1681 gggcagctgt tccctcctgg agaggtggga gtcctggctg gctgtggagg gagggcaggt
     1741 gtgcgggcac agagtgacac acggcaggtt tctgctggca gggccccacc ctcctgcata
     1801 gctctgatcg ggcgaggtgc ccacggggct tcaggaatga agaggcttaa gctctggctc
     1861 catggattct gcacatctgc gggggatgcc gctgggcttc ctcctctcct gcccacctgg
     1921 caagggcatc gccaggtggg cacaaccgtc atgacactac tcaccagcag gtggcgtcag
     1981 gggctttttc ttctgagccc ggcactgaga gttggtctga agcctggctc cttcttcact
     2041 gctccaggac tgctatgaag agtcccttca tgcctcagtt tcccagcctg gcaccatctt
     2101 attcgggaag aggagacgtg ttaacactct tgcctcctag ctaggacaga tgacaaaccg
     2161 caagagccac agacttgcca gttccttccc tctttccttc ctttctttcc cttcttttat
     2221 ttattgaatc ataatttatt gagcatctac catgtgccag gctctgttct cagtgctgga
     2281 gagacagctg tgaatgagac agagatctcg gccctcacag agctgacatc ctaaccagag
     2341 agttggacaa aaatcacgat aaatgagttg gttaaatagc gatttgtgag tagaaaacgc
     2401 agggacggtg agagagcagt ttcaattttc agggggatct cactgagagg gcaacatttg
     2461 atctgaagga ggtggggaag gagccaagtg ggcagacatc tgggggaaga gcattccagg
     2521 cagaggaaca gccagtgcaa aggccctgag acagaaatgt gcctggccgg ctgggtacag
     2581 taactcacat ctgtagtccc agcactttgg gaggccgagg cgggcagatc acttgagccc
     2641 aggagtttga gaccagcctg ggcaacacag cgaaaccctt tctctaccaa aaatatgaaa
     2701 tttagctggg catggtggtg tgtgcctgta gtcccagctg ctcaggaggc tgaggcggga
     2761 ggatggcttg agcccaggag gttgaggctg cagtgagcca tgattgcgcc actgcacccc
     2821 agcctgggca acagagcaag accctgtctc aaaaaatata tataaataaa aaagttttaa
     2881 aaagagaaaa ataaacaaag aaa
//
LOCUS       NM_001004319             684 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens VHL like (VHLL), mRNA.
ACCESSION   NM_001004319
VERSION     NM_001004319.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 684)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 684)
  AUTHORS   Minervini G, Quaglia F, Tabaro F and Tosatto SCE.
  TITLE     Insights into the molecular features of the von Hippel-Lindau-like
            protein
  JOURNAL   Amino Acids 51 (10-12), 1461-1474 (2019)
   PUBMED   31485743
  REMARK    GeneRIF: von Hippel-Lindau-like protein (VLP) is conserved in upper
            mammals and specifically expressed in brain and testis. Structural
            analysis and molecular dynamics simulations show VLP to be similar
            to von Hippel-Lindau tumor suppressor protein (pVHL)
            three-dimensional organization and binding dynamics. Conservation of
            elements at the protein interfaces suggests VLP to be a functional
            pVHL homolog possessing multiple functions.
REFERENCE   3  (bases 1 to 684)
  AUTHORS   Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura
            Y and Kamatani N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   4  (bases 1 to 684)
  AUTHORS   Qi H, Gervais ML, Li W, DeCaprio JA, Challis JR and Ohh M.
  TITLE     Molecular cloning and characterization of the von Hippel-Lindau-like
            protein
  JOURNAL   Mol Cancer Res 2 (1), 43-52 (2004)
   PUBMED   14757845
REFERENCE   5  (bases 1 to 684)
  AUTHORS   Bradley JF and Rothberg PG.
  TITLE     Processed pseudogene from the von Hippel-Lindau disease gene is
            located on human chromosome 1
  JOURNAL   Diagn Mol Pathol 8 (2), 101-106 (1999)
   PUBMED   10475385
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AY494836.1, BC130596.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000339922.5/ ENSP00000464258.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL589685.17.
            On Nov 27, 2019 this sequence version replaced NM_001004319.2.
            Summary: Von Hippel-Lindau (VHL) tumor suppressor protein is a
            component of an E3 ubiquitin ligase complex that selectively
            ubiquitinates the alpha subunit of the hypoxia-inducible factor
            (HIF) transcription factor for proteasome-mediated degradation.
            Inactivation of VHL causes VHL disease and sporadic kidney cancer.
            This gene encodes a VHL homolog that lacks one of two key domains
            necessary for VHL function. This gene may contribute to the
            regulation of oxygen homeostasis and neovascularization during
            placenta development. This gene is intronless, and can also be
            interpreted as a retrotransposed pseudogene of the VHL locus
            located on chromosome 3. However, the protein is represented in
            this RefSeq due to evidence in PMID:14757845 that strongly suggests
            it is translated. The same publication also indicates that this
            protein binds HIF alpha but fails to recruit the E3 ubiquitin
            ligase complex, and it therefore functions as a dominant-negative
            VHL protein and a protector of HIF alpha. [provided by RefSeq, Jan
            2010].
FEATURES             Location/Qualifiers
     source          1..684
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..684
                     /gene="VHLL"
                     /gene_synonym="VHLP; VLP"
                     /note="VHL like"
                     /db_xref="GeneID:391104"
                     /db_xref="HGNC:HGNC:30666"
                     /db_xref="MIM:619650"
     CDS             119..538
                     /gene="VHLL"
                     /gene_synonym="VHLP; VLP"
                     /note="VHL pseudogene; VHL-like protein; von Hippel-Lindau
                     tumor suppressor like"
                     /codon_start=1
                     /product="von Hippel-Lindau-like protein"
                     /protein_id="NP_001004319.1"
                     /db_xref="GeneID:391104"
                     /db_xref="HGNC:HGNC:30666"
                     /db_xref="MIM:619650"
                     /translation="MPWRAGNGVGLEAQAGTQEAGPEEYCQEELGAEEEMAARAAWPVL
                     RSVNSRELSRIIICNHSPRIVLPVWLNYYGKLLPYLTLLPGRDFRIHNFRSHPWLFRDA
                     RTHDKLLVNQTELFVPSSNVNGQPVFANITLQCIP"
     misc_feature    119..184
                     /gene="VHLL"
                     /gene_synonym="VHLP; VLP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RSH7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    278..523
                     /gene="VHLL"
                     /gene_synonym="VHLP; VLP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6RSH7.1);
                     Region: Beta-domain"
ORIGIN
        1 gttatatact cccagccttt ctgattccat tgtaactctt gccgaaatcc gggtgaacgg
       61 aagtagtctc tttaagaact ggtatgggca ggcccaagtt gtcaaggctt cggaggtaat
      121 gccctggaga gcggggaacg gggtgggttt agaggcccag gcgggcaccc aggaggcagg
      181 cccagaagag tactgccagg aagagttggg cgccgaggag gagatggcag ccagagcagc
      241 atggcctgtg ctgcgctctg tgaactcacg cgagctctcc cggatcatca tctgcaatca
      301 cagcccacga atcgtgctgc ctgtgtggct caactactat ggcaagctgc tgccctacct
      361 gacgctgctg cccggcaggg acttccgcat ccacaacttc cgaagccacc cttggctctt
      421 cagagatgca aggacacatg ataagcttct ggttaaccaa actgaattgt ttgtgccatc
      481 ttccaatgtt aatggacagc ctgtttttgc caacatcaca ctgcagtgta taccctgaaa
      541 gagcaatgcc tccaggttgt cggaagccta gtcaagccca agaattacag gagactggac
      601 atcgtcagat cactctatga cgatctggaa gatcatccaa atgtgattga aagacctgga
      661 gcggctgacg caggagcaca gtga
//
LOCUS       NM_001004320            2476 bp    mRNA    linear   PRI 05-JUL-2023
DEFINITION  Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.
ACCESSION   NM_001004320
VERSION     NM_001004320.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2476)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2476)
  AUTHORS   Okur V, Watschinger K, Niyazov D, McCarrier J, Basel D, Hermann M,
            Werner ER and Chung WK.
  TITLE     Biallelic variants in AGMO with diminished enzyme activity are
            associated with a neurodevelopmental disorder
  JOURNAL   Hum Genet 138 (11-12), 1259-1266 (2019)
   PUBMED   31555905
  REMARK    GeneRIF: Biallelic variants in AGMO with diminished enzyme activity
            are associated with a neurodevelopmental disorder.
REFERENCE   3  (bases 1 to 2476)
  AUTHORS   Marquet S, Bucheton B, Reymond C, Argiro L, El-Safi SH, Kheir MM,
            Desvignes JP, Beroud C, Mergani A, Hammad A and Dessein AJ.
  TITLE     Exome Sequencing Identifies Two Variants of the Alkylglycerol
            Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis
            in Children, in Sudan
  JOURNAL   J Infect Dis 216 (1), 22-28 (2017)
   PUBMED   28586473
  REMARK    GeneRIF: We identified homozygous and heterozygous mutations of the
            alkylglycerol monooxygenase (AGMO) gene (MIM 613738) as the likely
            cause of visceral leishmaniasis relapse in 3 families.
REFERENCE   4  (bases 1 to 2476)
  AUTHORS   Alrayes N, Mohamoud HS, Ahmed S, Almramhi MM, Shuaib TM, Wang J,
            Al-Aama JY, Everett K, Nasir J and Jelani M.
  TITLE     The alkylglycerol monooxygenase (AGMO) gene previously involved in
            autism also causes a novel syndromic form of primary microcephaly in
            a consanguineous Saudi family
  JOURNAL   J Neurol Sci 363, 240-244 (2016)
   PUBMED   27000257
  REMARK    GeneRIF: An AGMO mutation was found in a Saudi family underlying
            primary microcephaly and intellectual disability.
REFERENCE   5  (bases 1 to 2476)
  AUTHORS   Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M,
            Rodriguez M, Tam S, Wanamaker SA, Fan C, Yi S, Tasan M, Lemmens I,
            Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA,
            Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat
            J, Hill DE, Hao T, Vidal M and Iakoucheva LM.
  TITLE     Protein interaction network of alternatively spliced isoforms from
            brain links genetic risk factors for autism
  JOURNAL   Nat Commun 5, 3650 (2014)
   PUBMED   24722188
  REMARK    Erratum:[Nat Commun. 2023 Feb 2;14(1):569. PMID: 36732511]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2476)
  AUTHORS   Watschinger K, Fuchs JE, Yarov-Yarovoy V, Keller MA, Golderer G,
            Hermetter A, Werner-Felmayer G, Hulo N and Werner ER.
  TITLE     Catalytic residues and a predicted structure of
            tetrahydrobiopterin-dependent alkylglycerol mono-oxygenase
  JOURNAL   Biochem J 443 (1), 279-286 (2012)
   PUBMED   22220568
  REMARK    GeneRIF: Among all of the acidic residues within the eight-histidine
            motif, only mutation of Glu137 to alanine led to an 18-fold increase
            in the Michaelis-Menten constant for tetrahydrobiopterin, suggesting
            a role in tetrahydrobiopterin interaction
REFERENCE   7  (bases 1 to 2476)
  AUTHORS   Akiyama K, Narita A, Nakaoka H, Cui T, Takahashi T, Yasuno K, Tajima
            A, Krischek B, Yamamoto K, Kasuya H, Hata A and Inoue I.
  TITLE     Genome-wide association study to identify genetic variants present
            in Japanese patients harboring intracranial aneurysms
  JOURNAL   J Hum Genet 55 (10), 656-661 (2010)
   PUBMED   20613766
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 2476)
  AUTHORS   Watschinger K, Keller MA, Golderer G, Hermann M, Maglione M, Sarg B,
            Lindner HH, Hermetter A, Werner-Felmayer G, Konrat R, Hulo N and
            Werner ER.
  TITLE     Identification of the gene encoding alkylglycerol monooxygenase
            defines a third class of tetrahydrobiopterin-dependent enzymes
  JOURNAL   Proc Natl Acad Sci U S A 107 (31), 13672-13677 (2010)
   PUBMED   20643956
  REMARK    GeneRIF: Transmembrane protein 195 has tetrahydrobiopterin-dependent
            alkylglycerol monooxygenase activity (also known as glyceryl-ether
            monooxygenase activity, E.C. 1.14.16.5).
REFERENCE   9  (bases 1 to 2476)
  AUTHORS   Boesgaard TW, Grarup N, Jorgensen T, Borch-Johnsen K, Hansen T and
            Pedersen O.
  CONSRTM   Meta-Analysis of Glucose and Insulin-Related Trait Consortium
            (MAGIC)
  TITLE     Variants at DGKB/TMEM195, ADRA2A, GLIS3 and C2CD4B loci are
            associated with reduced glucose-stimulated beta cell function in
            middle-aged Danish people
  JOURNAL   Diabetologia 53 (8), 1647-1655 (2010)
   PUBMED   20419449
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10  (bases 1 to 2476)
  AUTHORS   Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson
            AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM,
            Magi R, Morris AP, Randall J, Johnson T, Elliott P, Rybin D,
            Thorleifsson G, Steinthorsdottir V, Henneman P, Grallert H, Dehghan
            A, Hottenga JJ, Franklin CS, Navarro P, Song K, Goel A, Perry JR,
            Egan JM, Lajunen T, Grarup N, Sparso T, Doney A, Voight BF,
            Stringham HM, Li M, Kanoni S, Shrader P, Cavalcanti-Proenca C,
            Kumari M, Qi L, Timpson NJ, Gieger C, Zabena C, Rocheleau G,
            Ingelsson E, An P, O'Connell J, Luan J, Elliott A, McCarroll SA,
            Payne F, Roccasecca RM, Pattou F, Sethupathy P, Ardlie K, Ariyurek
            Y, Balkau B, Barter P, Beilby JP, Ben-Shlomo Y, Benediktsson R,
            Bennett AJ, Bergmann S, Bochud M, Boerwinkle E, Bonnefond A,
            Bonnycastle LL, Borch-Johnsen K, Bottcher Y, Brunner E, Bumpstead
            SJ, Charpentier G, Chen YD, Chines P, Clarke R, Coin LJ, Cooper MN,
            Cornelis M, Crawford G, Crisponi L, Day IN, de Geus EJ, Delplanque
            J, Dina C, Erdos MR, Fedson AC, Fischer-Rosinsky A, Forouhi NG, Fox
            CS, Frants R, Franzosi MG, Galan P, Goodarzi MO, Graessler J, Groves
            CJ, Grundy S, Gwilliam R, Gyllensten U, Hadjadj S, Hallmans G,
            Hammond N, Han X, Hartikainen AL, Hassanali N, Hayward C, Heath SC,
            Hercberg S, Herder C, Hicks AA, Hillman DR, Hingorani AD, Hofman A,
            Hui J, Hung J, Isomaa B, Johnson PR, Jorgensen T, Jula A, Kaakinen
            M, Kaprio J, Kesaniemi YA, Kivimaki M, Knight B, Koskinen S, Kovacs
            P, Kyvik KO, Lathrop GM, Lawlor DA, Le Bacquer O, Lecoeur C, Li Y,
            Lyssenko V, Mahley R, Mangino M, Manning AK, Martinez-Larrad MT,
            McAteer JB, McCulloch LJ, McPherson R, Meisinger C, Melzer D, Meyre
            D, Mitchell BD, Morken MA, Mukherjee S, Naitza S, Narisu N, Neville
            MJ, Oostra BA, Orru M, Pakyz R, Palmer CN, Paolisso G, Pattaro C,
            Pearson D, Peden JF, Pedersen NL, Perola M, Pfeiffer AF, Pichler I,
            Polasek O, Posthuma D, Potter SC, Pouta A, Province MA, Psaty BM,
            Rathmann W, Rayner NW, Rice K, Ripatti S, Rivadeneira F, Roden M,
            Rolandsson O, Sandbaek A, Sandhu M, Sanna S, Sayer AA, Scheet P,
            Scott LJ, Seedorf U, Sharp SJ, Shields B, Sigurethsson G, Sijbrands
            EJ, Silveira A, Simpson L, Singleton A, Smith NL, Sovio U, Swift A,
            Syddall H, Syvanen AC, Tanaka T, Thorand B, Tichet J, Tonjes A,
            Tuomi T, Uitterlinden AG, van Dijk KW, van Hoek M, Varma D,
            Visvikis-Siest S, Vitart V, Vogelzangs N, Waeber G, Wagner PJ,
            Walley A, Walters GB, Ward KL, Watkins H, Weedon MN, Wild SH,
            Willemsen G, Witteman JC, Yarnell JW, Zeggini E, Zelenika D,
            Zethelius B, Zhai G, Zhao JH, Zillikens MC, Borecki IB, Loos RJ,
            Meneton P, Magnusson PK, Nathan DM, Williams GH, Hattersley AT,
            Silander K, Salomaa V, Smith GD, Bornstein SR, Schwarz P, Spranger
            J, Karpe F, Shuldiner AR, Cooper C, Dedoussis GV, Serrano-Rios M,
            Morris AD, Lind L, Palmer LJ, Hu FB, Franks PW, Ebrahim S, Marmot M,
            Kao WH, Pankow JS, Sampson MJ, Kuusisto J, Laakso M, Hansen T,
            Pedersen O, Pramstaller PP, Wichmann HE, Illig T, Rudan I, Wright
            AF, Stumvoll M, Campbell H, Wilson JF, Bergman RN, Buchanan TA,
            Collins FS, Mohlke KL, Tuomilehto J, Valle TT, Altshuler D, Rotter
            JI, Siscovick DS, Penninx BW, Boomsma DI, Deloukas P, Spector TD,
            Frayling TM, Ferrucci L, Kong A, Thorsteinsdottir U, Stefansson K,
            van Duijn CM, Aulchenko YS, Cao A, Scuteri A, Schlessinger D, Uda M,
            Ruokonen A, Jarvelin MR, Waterworth DM, Vollenweider P, Peltonen L,
            Mooser V, Abecasis GR, Wareham NJ, Sladek R, Froguel P, Watanabe RM,
            Meigs JB, Groop L, Boehnke M, McCarthy MI, Florez JC and Barroso I.
  CONSRTM   DIAGRAM Consortium; GIANT Consortium; Global BPgen Consortium;
            Anders Hamsten on behalf of Procardis Consortium; MAGIC
            investigators
  TITLE     New genetic loci implicated in fasting glucose homeostasis and their
            impact on type 2 diabetes risk
  JOURNAL   Nat Genet 42 (2), 105-116 (2010)
   PUBMED   20081858
  REMARK    GeneRIF: Meta-analysis and genome-wide association study of
            gene-disease association. (HuGE Navigator) Erratum:[Nat Genet.2010
            May;42(5):464]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK131284.1, SRR1660809.224668.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000342526.8/ ENSP00000341662.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK131284.1 and AC091789.5.
            On Nov 23, 2018 this sequence version replaced NM_001004320.1.
            Summary: The protein encoded by this gene is a tetrahydrobiopterin-
            and iron-dependent enzyme that cleaves the ether bond of
            alkylglycerols. Sequence comparisons distinguish this protein as
            forming a third, distinct class of tetrahydrobiopterin-dependent
            enzymes. Variations in this gene have been associated with
            decreased glucose-stimulated insulin response, type 2 diabetes, and
            susceptibility to intracranial aneurysms. [provided by RefSeq, Aug
            2012].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2476
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.2"
     gene            1..2476
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
                     /note="alkylglycerol monooxygenase"
                     /db_xref="GeneID:392636"
                     /db_xref="HGNC:HGNC:33784"
                     /db_xref="MIM:613738"
     misc_feature    63..65
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
                     /note="upstream in-frame stop codon"
     CDS             171..1508
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
                     /EC_number="1.14.16.5"
                     /note="transmembrane protein 195; glyceryl-ether
                     monooxygenase"
                     /codon_start=1
                     /product="alkylglycerol monooxygenase"
                     /protein_id="NP_001004320.1"
                     /db_xref="CCDS:CCDS34604.1"
                     /db_xref="GeneID:392636"
                     /db_xref="HGNC:HGNC:33784"
                     /db_xref="MIM:613738"
                     /translation="MKNPEAQQDVSVSQGFRMLFYTMKPSETSFQTLEEVPDYVKKATP
                     FFISLMLLELVVSWILKGKPPGRLDDALTSISAGVLSRLPSLFFRSIELTSYIYIWENY
                     RLFNLPWDSPWTWYSAFLGVDFGYYWFHRMAHEVNIMWAGHQTHHSSEDYNLSTALRQS
                     VLQIYTSWIFYSPLALFIPPSVYAVHLQFNLLYQFWIHTEVINNLGPLELILNTPSHHR
                     VHHGRNRYCIDKNYAGVLIIWDKIFGTFEAENEKVVYGLTHPINTFEPIKVQFHHLFSI
                     WTTFWATPGFFNKFSVIFKGPGWGPGKPRLGLSEEIPEVTGKEVPFSSSSSQLLKIYTV
                     VQFALMLAFYEETFADTAALSQVTLLLRVCFIILTLTSIGFLLDQRPKAAIMETLRCLM
                     FLMLYRFGHLKPLVPSLSSAFEIVFSICIAFWGVRSMKQLTSHPWK"
     misc_feature    297..359
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNB7.1);
                     transmembrane region"
     misc_feature    501..563
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNB7.1);
                     transmembrane region"
     misc_feature    564..578
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNB7.1);
                     Region: Histidine box-1"
     misc_feature    603..617
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNB7.1);
                     Region: Histidine box-2"
     misc_feature    831..845
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNB7.1);
                     Region: Histidine box-3"
     misc_feature    1170..1232
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNB7.1);
                     transmembrane region"
     misc_feature    1257..1319
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNB7.1);
                     transmembrane region"
     misc_feature    1407..1469
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNB7.1);
                     transmembrane region"
     regulatory      1625..1630
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
                     /note="hexamer: AGTAAA"
     polyA_site      1645
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
                     /note="major polyA site"
     regulatory      1675..1680
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
                     /note="hexamer: ATTAAA"
     polyA_site      1692
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
     regulatory      2458..2463
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
                     /note="hexamer: AATAAA"
     polyA_site      2476
                     /gene="AGMO"
                     /gene_synonym="TMEM195"
ORIGIN
        1 ctctctacac agaatcggct gttgagtgtg ctctcagtgg agctttggtt ttagctgttc
       61 tctgacaaag agcttgttct gagctgcaca tctcgtcctc tttgttcagc ctcaggcttc
      121 aagcattgaa tcctaaatat tctccagctg ggaatcagac aagggcagaa atgaagaacc
      181 cagaagccca gcaggatgtt tcagtttccc agggatttcg catgttgttt tacacgatga
      241 aacccagtga aacttcattc caaacattag aagaggtgcc tgattatgta aaaaaggcaa
      301 ctccattttt catttctttg atgctgcttg aacttgttgt cagctggatt ctcaaaggaa
      361 agccaccagg tcgcctggat gatgctttaa cgtcaatctc agctggtgtt ctgtctcgac
      421 ttccaagtct atttttcagg agcattgaac tgaccagtta tatttatatc tgggagaact
      481 acaggctgtt caatttgcct tgggattctc catggacttg gtattcagcc ttcttaggag
      541 ttgactttgg ctactactgg ttccatcgta tggctcatga agttaatatt atgtgggccg
      601 gacaccaaac acatcatagt tctgaagact ataacttatc cacagcactg agacagtctg
      661 tcctccagat atatacttcc tggattttct actctcccct ggccctcttc ataccccctt
      721 cagtatatgc tgttcatctt caattcaatc ttctttacca attttggatc catacagagg
      781 tcatcaataa ccttggtcct ttggaactga ttcttaatac tcctagccat catagggttc
      841 atcatggcag aaatcgttat tgcatagaca aaaattatgc tggtgttctt attatttggg
      901 ataaaatttt tgggacattt gaagcagaaa atgaaaaagt tgtatatggc ttaacacatc
      961 ccattaatac atttgaacca atcaaagtgc agttccatca cttattttcc atatggacta
     1021 cattctgggc cacacctgga ttcttcaata agttttctgt catatttaag ggaccgggat
     1081 ggggtccagg taaaccaaga cttggtctca gtgaagaaat tccagaggtc accggcaaag
     1141 aagttccctt ctcatcatct tcatctcagc tattaaagat atatacagtt gtacagtttg
     1201 ctctgatgtt ggcattttat gaagagacct ttgcagatac agctgcactg tcgcaagtta
     1261 ctctccttct gagggtttgc ttcattatcc tgaccttgac ttccattgga tttcttctgg
     1321 atcaaagacc caaggcagct attatggaaa ctctccgttg cttgatgttc ttaatgctgt
     1381 accgatttgg tcacctgaag cctcttgtcc cttcattgtc atctgctttt gagattgttt
     1441 tttccatttg cattgctttc tggggagtta gaagcatgaa acaactcacc tctcaccctt
     1501 ggaaataacc tgaatttgta cataattctc ttcttttaat gagttgtcca cacgcatatt
     1561 atgactgcat attaaaatgt aattatttta tgtaatgctt atatgaacta tttcttcaat
     1621 gaaaagtaaa attacttatt tactattgtt tgcctttcac atttgttatt ttctattaaa
     1681 aattaaagtc agttttggtt acttcccccc tttactacaa ttaaaaaaag atttcaaata
     1741 taatgatgtt atattaactg atagccttat atgacaagta taaaaagaag ggatgaaact
     1801 taaaaacagt aaaaacaaga aggaatattg cctttacatc aatttgaaaa caatgtttcc
     1861 tttgatgttt gctaaaatta tgcatagata catgtttgta gtcataaaaa tgtattacat
     1921 tggttgtctt cctaaggcca cagttacctt tgcaatccat ataacctaag aagctgcatt
     1981 ccagaaaaag acatcactga ggccaggcgc ggtggctcac ccctgtaatc ccagcacttt
     2041 gtggggctga ggtgggcgga tcatgaggtc cagagataga gaccatcctg gccaacatgg
     2101 tgaagtcctg tctctactaa aaatataaaa atttagctgg acatggtggt gtgcgcctgt
     2161 agtcccagct actctggagg ctgaggcagg agaatcgctt gaacctggga ggcagaagtt
     2221 ggagtgagtg gagattgcac cactgcactc cagcctgggc gacagagcga gactccgtct
     2281 caaagaaaaa agacatcact gaaagaaaaa tgaacagaat ttgtcagaat tagttttttc
     2341 aacaggttac tttgtcatac atttctctaa tatgcttggt caatttgttt tggcagactg
     2401 ggcagcatgc agcaattctg cattatttaa agttatcaga acaatgttaa ttctctaaat
     2461 aaaattaccc aaggtg
//
LOCUS       NM_001004323             988 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens sperm acrosome developmental regulator (SPACDR), mRNA.
ACCESSION   NM_001004323
VERSION     NM_001004323.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 988)
  AUTHORS   Celse T, Cazin C, Mietton F, Martinez G, Martinez D, Thierry-Mieg N,
            Septier A, Guillemain C, Beurois J, Clergeau A, Mustapha SFB,
            Kharouf M, Zoghmar A, Chargui A, Papaxanthos A, Dorphin B, Foliguet
            B, Triki C, Sifer C, Lauton D, Tachdjian G, Schuler G, Lejeune H,
            Puechberty J, Bessonnat J, Pasquier L, Mery L, Poulain M, Chaabouni
            M, Sermondade N, Cabry R, Benbouhadja S, Veau S, Frapsauce C,
            Mitchell V, Achard V, Satre V, Hennebicq S, Zouari R, Arnoult C,
            Kherraf ZE, Coutton C and Ray PF.
  TITLE     Genetic analyses of a large cohort of infertile patients with
            globozoospermia, DPY19L2 still the main actor, GGN confirmed as a
            guest player
  JOURNAL   Hum Genet 140 (1), 43-57 (2021)
   PUBMED   33108537
REFERENCE   2  (bases 1 to 988)
  AUTHORS   Zhang X, Koga N, Suzuki H and Kato M.
  TITLE     Promotion of cellular senescence by THG-1/TSC22D4 knockout through
            activation of JUNB
  JOURNAL   Biochem Biophys Res Commun 522 (4), 897-902 (2020)
   PUBMED   31806366
REFERENCE   3  (bases 1 to 988)
  AUTHORS   Oud MS, Okutman O, Hendricks LAJ, de Vries PF, Houston BJ, Vissers
            LELM, O'Bryan MK, Ramos L, Chemes HE, Viville S and Veltman JA.
  TITLE     Exome sequencing reveals novel causes as well as new candidate genes
            for human globozoospermia
  JOURNAL   Hum Reprod 35 (1), 240-252 (2020)
   PUBMED   31985809
REFERENCE   4  (bases 1 to 988)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC031966.1, SRR5189667.51628.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000332375.4/ ENSP00000327732.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC031966.1.
            On Nov 24, 2018 this sequence version replaced NM_001004323.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..988
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..988
                     /gene="SPACDR"
                     /gene_synonym="C7orf61"
                     /note="sperm acrosome developmental regulator"
                     /db_xref="GeneID:402573"
                     /db_xref="HGNC:HGNC:22135"
                     /db_xref="MIM:619782"
     CDS             236..856
                     /gene="SPACDR"
                     /gene_synonym="C7orf61"
                     /note="uncharacterized protein C7orf61"
                     /codon_start=1
                     /product="sperm acrosome developmental regulator"
                     /protein_id="NP_001004323.1"
                     /db_xref="CCDS:CCDS47661.1"
                     /db_xref="GeneID:402573"
                     /db_xref="HGNC:HGNC:22135"
                     /db_xref="MIM:619782"
                     /translation="MVVVMKFFRWVRRAWQRIISWVFFWRQKIKPTISGHPDSKKHSLK
                     KMEKTLQVVETLRLVELPKEAKPKLGESPELADPCVLAKTTEETEVELGQQGQSLLQLP
                     RTAVKSVSTLMVSALQSGWQMCSWKSSVSSASVSSQVRTQSPLKTPEAELLWEVYLVLW
                     AVRKHLRRLYRRQERHRRHHVRCHAAPRPNPAQSLKLDAQSPL"
     misc_feature    773..853
                     /gene="SPACDR"
                     /gene_synonym="C7orf61"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZ16.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      967..972
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPACDR"
                     /gene_synonym="C7orf61"
                     /note="hexamer: AATAAA"
     polyA_site      988
                     /gene="SPACDR"
                     /gene_synonym="C7orf61"
                     /note="major polyA site"
ORIGIN
        1 cctacttcga ctcctctccc tgtcccaggg aggggagaaa aggtctggga ttcattgcca
       61 ggaggggctt cccccaggat ttcctacttc tttctttact gctgtgcttg aagctcacag
      121 gagacccctc aagaggtggt caccggccca cagcccaccc catcccccac ccgccacccc
      181 caccgtacca aatgctagct ctgccctttc ttctgtgttt ttcccatcaa gagagatggt
      241 tgtggtcatg aagttcttcc gatgggttag acgggcttgg caaaggatta tttcctgggt
      301 tttcttctgg aggcaaaaaa ttaaaccaac catctcagga caccctgact ccaagaaaca
      361 ctcattgaag aagatggaga agactctcca ggtggttgag actttgaggt tggtcgagct
      421 cccaaaagag gctaagccca agttgggtga gtcccccgag ctggcagatc cctgcgtgtt
      481 ggccaagact acagaggaga ccgaggtgga gctgggccaa cagggccaat ccctactgca
      541 gctgccgagg acggccgtca agtctgtctc cacgctcatg gtctctgccc tgcagagcgg
      601 ctggcagatg tgcagctgga agtcatcagt gagttctgcc tcagtcagct cccaagtgag
      661 gacgcagtca cctttgaaga ctccggaggc tgagttgctg tgggaggtgt acctggtgct
      721 gtgggccgtt cggaaacacc tgcgccggct gtaccgcagg caggagaggc acagacggca
      781 ccacgtccga tgccatgctg ccccccgacc caacccggct cagtccctga aactggatgc
      841 ccaaagtccc ctctaggggg aaccccagac ccttagagag tcctgacctc actcttacct
      901 ggggtcccat atcagcccct tcattccatg tattccagtt gtaaaacaag tatcaaaata
      961 ttgggaaata aatatcagat agttctga
//
LOCUS       NM_001004325            1118 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens keratin associated protein 5-2 (KRTAP5-2), mRNA.
ACCESSION   NM_001004325
VERSION     NM_001004325.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1118)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1118)
  AUTHORS   Clarke LE, Conway AB, Warner NM, Barnwell PN, Sceppa J and Helm KF.
  TITLE     Expression of CK7, Cam 5.2 and Ber-Ep4 in cutaneous squamous cell
            carcinoma
  JOURNAL   J Cutan Pathol 40 (7), 646-650 (2013)
   PUBMED   23590728
  REMARK    GeneRIF: CK7 and Cam 5.2 expression may occur in SCC. A panel
            including Ber-Ep4 is advisable for immunohistochemical
            differentiation of EPD from SCC.
REFERENCE   3  (bases 1 to 1118)
  AUTHORS   Yahagi S, Shibuya K, Obayashi I, Masaki H, Kurata Y, Kudoh J and
            Shimizu N.
  TITLE     Identification of two novel clusters of ultrahigh-sulfur
            keratin-associated protein genes on human chromosome 11
  JOURNAL   Biochem Biophys Res Commun 318 (3), 655-664 (2004)
   PUBMED   15144888
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AJ628245.1, BC132908.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000412090.2/ ENSP00000400041.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AJ628245.1.
            On May 17, 2019 this sequence version replaced NM_001004325.1.
FEATURES             Location/Qualifiers
     source          1..1118
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..1118
                     /gene="KRTAP5-2"
                     /gene_synonym="KRTAP5-8; KRTAP5.2"
                     /note="keratin associated protein 5-2"
                     /db_xref="GeneID:440021"
                     /db_xref="HGNC:HGNC:23597"
     CDS             45..578
                     /gene="KRTAP5-2"
                     /gene_synonym="KRTAP5-8; KRTAP5.2"
                     /note="keratin-associated protein 5-8; keratin-associated
                     protein 5.2; keratin-associated protein 5.8; ultrahigh
                     sulfur keratin-associated protein 5.2"
                     /codon_start=1
                     /product="keratin-associated protein 5-2"
                     /protein_id="NP_001004325.1"
                     /db_xref="CCDS:CCDS31331.1"
                     /db_xref="GeneID:440021"
                     /db_xref="HGNC:HGNC:23597"
                     /translation="MGCCGCSRGCGSGCGGCGSSCGGCGSGCGGCGSGRGGCGSGCGGC
                     SSSCGGCGSRCYVPVCCCKPVCSWVPACSCTSCGSCGGSKGGCGSCGGSKGGCGSCGGS
                     KGGCGSCGCSQSSCCKPCCCSSGCGSSCCQSSCCKPCCCQSSCCVPVCCQSSCCKPCCC
                     QSNCCVPVCCQCKI"
     misc_feature    228..554
                     /gene="KRTAP5-2"
                     /gene_synonym="KRTAP5-8; KRTAP5.2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q701N4.1);
                     Region: 6 X 4 AA repeats of C-C-X-P"
ORIGIN
        1 ctcacctgct cctctacctg ctccaccctc aatccaccag aaccatgggc tgctgtggct
       61 gctccagagg ctgtggctcc ggctgtgggg gctgtggctc cagctgtggg ggttgtggct
      121 ctggctgtgg gggctgtggc tccggccgtg ggggctgtgg ctctggctgt gggggctgca
      181 gctccagctg tgggggatgt ggctccagat gttatgtgcc tgtctgctgc tgcaagcccg
      241 tgtgctcctg ggtgccagcc tgttcctgca ccagctgtgg ctcctgtggg ggctccaagg
      301 ggggctgtgg ctcctgtggg ggctccaagg ggggctgtgg ctcctgtggg ggttccaagg
      361 ggggctgtgg ttcttgtggc tgctcccagt ccagctgttg taagccctgt tgctgctcct
      421 caggctgtgg atcatcctgc tgccagtcca gctgctgcaa gccctgctgc tgccagtcca
      481 gctgctgtgt ccccgtgtgc tgccagtcca gctgctgcaa gccctgttgc tgccagtcca
      541 actgttgtgt ccctgtgtgc tgccagtgta agatctgagg ctctggaccc agaccttcag
      601 gtttctcctg tttggtgaaa gcatttctta tggttccctg agtcagttcg tcccacacat
      661 cctccctgag gcacctgcac ctgctctagc tcaccatcca tgcacacacc tccttccatg
      721 gctcagctct cctctgggcc ctgccttcag cctcctcact ccagaaacgt gtgtttccct
      781 gatgcgggag gtgtcctcgc ctggacgcag gcacccagcc gactgccacg atgttccctg
      841 cacttgggtg tggaccatct tcttcttctc cctgggctga ctgagatgca aggtctgacc
      901 ccacaaggcc aggccgacgt ttctgagtga tcactaagaa ccagcttctc aaccaccatc
      961 aggaccctgg atcctcctgg gccgctgcct gttctcctgt ggcccaagtg tgaccaggaa
     1021 ggtctctttc cttcctgttg tctccatctg tttaaaaaaa aataacaaaa taatgaatga
     1081 atttccttgc aataaagcct ctcatgtctg taaatcaa
//
LOCUS       NM_001004328            3515 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 705A (ZNF705A), mRNA.
ACCESSION   NM_001004328
VERSION     NM_001004328.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3515)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BG203970.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148874,
            SAMEA2151119 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396570.8/ ENSP00000379816.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092111.9.
            On or before Sep 21, 2020 this sequence version replaced
            XM_024448981.1, NM_001004328.2.
FEATURES             Location/Qualifiers
     source          1..3515
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..3515
                     /gene="ZNF705A"
                     /note="zinc finger protein 705A"
                     /db_xref="GeneID:440077"
                     /db_xref="HGNC:HGNC:32281"
     misc_feature    93..95
                     /gene="ZNF705A"
                     /note="upstream in-frame stop codon"
     CDS             150..1052
                     /gene="ZNF705A"
                     /codon_start=1
                     /product="zinc finger protein 705A"
                     /protein_id="NP_001004328.1"
                     /db_xref="CCDS:CCDS31737.1"
                     /db_xref="GeneID:440077"
                     /db_xref="HGNC:HGNC:32281"
                     /translation="MHSLKKVTFEDVAIDFTQEEWAMMDTSKRKLYRDVMLENISHLVS
                     LGYQISKSYIILQLEQGKELWREGREFLQDQNPDRESALKKKHMISMHPITRKDASTSM
                     TMENSLILEDPFECNDSGEDCTHSSTITQRLLTHSGKKPYVSKQCGKSLRNLFSPKPHK
                     QIHTKGKSYQCNLCEKAYTNCFRLRRHKMTHTGERPYACHLCGKAFTQCSHLRRHEKTH
                     TGERPYKCHQCGKAFIQSFNLRRHERTHLGKKCYECDKSGKAFSQSSGFRGNKIIHTGE
                     KPHACLLCGKAFSLSSDLR"
ORIGIN
        1 gactcgtcaa aaatctgcat aatggaaaat tgcaaggggt ttttcctgat ctactttgaa
       61 atgcaattcc gcttaaagct tttcttagtg cctaaagtgt ctgcacatgg aaatccagag
      121 gtagacagag agaaactgag ttccggacaa tgcattcact aaagaaagtg acttttgaag
      181 atgtagctat tgacttcacc caggaagagt gggccatgat ggacacatcc aagagaaagc
      241 tgtacagaga tgtgatgctg gaaaatatca gtcacctggt gtccctcggg taccagataa
      301 gcaaatccta tataattttg cagctggagc aaggaaaaga gctgtggcgg gaaggaagag
      361 aatttcttca agaccagaat ccagacaggg aaagtgccct taagaaaaaa cacatgatat
      421 ccatgcatcc tatcaccaga aaagacgcat ccaccagtat gacaatggag aactctctca
      481 ttctggagga tccttttgaa tgtaatgatt cgggagaaga ttgcactcac agttccacaa
      541 taactcagcg tttgttaact cacagtggaa agaaacccta tgtcagcaaa cagtgtggaa
      601 aatctcttcg taatcttttc tcccctaaac cacataaaca aattcatact aaaggtaaat
      661 catatcaatg taatctatgt gaaaaggcct atactaattg ctttcgcctt agacggcaca
      721 agatgactca cactggagag aggccatatg catgtcatct atgtggaaaa gccttcactc
      781 agtgttctca ccttagaaga catgagaaaa ctcacacggg agagagacca tataagtgtc
      841 atcaatgtgg gaaagccttt attcaatcct ttaaccttcg aagacatgag agaactcacc
      901 ttggaaaaaa gtgttatgaa tgtgataaaa gtgggaaagc ctttagtcaa agctctggct
      961 ttagaggaaa caaaataatt cacactggag agaaaccaca tgcttgtctt ctatgtggga
     1021 aggccttcag tctgtcttcc gaccttagat gacatgagag aacatgcact ggagaaaagc
     1081 catatgaatg ccatttatgt gggaaagcct tcagtcaatg tactagtctt aaatagcatc
     1141 agaaaattca cgctggagag aaaattataa acttcttcag aacatattct gactttagat
     1201 gacactgtgt taggaatgac gaaggtaagg aatgtggaag agacttcagc tgtagttgta
     1261 gcatctaaac atgccaaagg actcatattt tgaagaaata ctggaatcaa catggaagat
     1321 acttcagtta cctttattct tcagtccaca tcaataaatt catatggaag agaaattgta
     1381 tgacatgtat gtaccaaaga cttgttagtg atctgagcat aaatgacatg agagagctga
     1441 aactgtcaac atagtcaact aaaagtcttc agcaacagct ttaacttaaa acatgtggga
     1501 ctttcaggta gagaatctct aactctgcat tcagtgtgaa aatattttta tttgcaattt
     1561 attgtcaaat aacatgagaa aactttactt ggatgaaccc tttatttgta ttttctgtga
     1621 ataaacattc agccaagcac caggcttgat gttcacaaga aaacagagtg ataaaatgct
     1681 gctaaaatgg aaaataagag aggaaagcct tcataagcta aataagaagg gaaagtcttt
     1741 ccaagggcaa tgaattctct tggaatacca aatacttctt actggagaag ttatgcaatg
     1801 aaaaatcatg agaaatcctt tcttcataga gcaacacttg tggcacatgt gagatttcac
     1861 actggacaaa acatggttag catcctgaaa ggagaaaatt ctttagtggt aattcatttc
     1921 ttagttgaca ttaagtttct cacattgagg agctatcaaa cttgaaaatc actgtggaga
     1981 aacctgatag atttctcatc agaaaagtga gtcaagaagg tggacctcta gaaaaaactc
     2041 ttaacacata ctttagcaaa ataattcaga aatttgagaa aatatctatt cataaaaatg
     2101 tggcatataa atgcataata gtaaagtgac cagggaataa attgaatgca gaattatata
     2161 agaaatctca ttaaactttt ccaaaagatc aatacttaca aatattgaaa gaatacaatc
     2221 tgttgttgaa aaaacttagt atgttggcga agcccttgtt tcatttatgc agccctaaca
     2281 aatcgatttg catctgcact ccttgggtga gattcttggt cgagattcta ccccaacttc
     2341 tgagtctccc cagtctttaa cagctctttc ctcacagctc acctcccttt acttcaacgt
     2401 ccactaaaac cacttgtttc catccaaccc tcgagttgac acaccaggga tcttcagccc
     2461 cacttgctag atttctcagt gtgtcattgc atagatttag cagggaaatg gaggctgtat
     2521 caaagacccc tagtatatgc atttgggtgt ccgcagccct tgcctctgtc tctgagcagt
     2581 tacctgggat cagagaataa ggcagctctt ctcttctatc cctcagaagg ctcttgaaat
     2641 tttgtccctg gagcctctct aactggaagt agcagttcat ctcatgacac cccacatttt
     2701 attcaggtga gtcctgagtt attacacaga gacagacaca gctgtgctcc ttttactgca
     2761 gtccagaaga taaaacacca gcatgataaa acagccgaac ctgtcagcca ccttgcaagc
     2821 ctttcctata ttcgattcaa tgtacttttc ccgaagcaaa atgaaagttc tcacagaggg
     2881 gccctcctct gccttgtcct cagaattgga aaatgtattg tccgtgaagg agcctcagta
     2941 ctgaacctaa aactcaagag aaaatgtttc ctgaatatca agtgggatga cttgaaattt
     3001 tgccaaacag gcacaatctt aatacgatcg gccttactaa ggctaaatgg ccttatccgt
     3061 ggttgaagtt gacaaatcaa tatattaaaa aatctccaca agtgattgat tttactctgc
     3121 agccagggtt tatgtcaagt gtgaggataa tgagcaagaa attcaagccc ttggcaaact
     3181 ggttggagag gcaaggactg tgtccaggca gagctcatat cattatttat tgtttaatct
     3241 atttaattaa atatgtaatt tacccacaaa ctgtggctga cattatatgt actcctgagc
     3301 cacattgaga tgtactattt gtgctatgaa attctatggg atttgacaaa tgcatggtgg
     3361 cagatctcca gccattatta aagcgtaaca cagaatgctt ctcttattca agctcatctt
     3421 ccctccacat agagggaatc aatcgacttt tgtatactga tttttgaatt tgcttcttta
     3481 tttccatctt cttcaattaa agcacaagat atcgt
//
LOCUS       NM_001004329            2806 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens developing brain homeobox 2 (DBX2), mRNA.
ACCESSION   NM_001004329
VERSION     NM_001004329.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2806)
  AUTHORS   Hu YT, Li BF, Zhang PJ, Wu D, Li YY, Li ZW, Shen L, Dong B, Gao J
            and Zhu X.
  TITLE     Dbx2 exhibits a tumor-promoting function in hepatocellular carcinoma
            cell lines via regulating Shh-Gli1 signaling
  JOURNAL   World J Gastroenterol 25 (8), 923-940 (2019)
   PUBMED   30833799
  REMARK    GeneRIF: DBX2 is obviously upregulated in hepatocellular carcinoma
            (HCC) tissues and strongly correlated with tumor size. Subsequently,
            both gain and loss of function assays indicated that DBX2 promoted
            HCC migration, invasion, and proliferation by facilitating the
            transition from G1 to S phase and attenuating apoptosis in vitro and
            in vivo.
REFERENCE   2  (bases 1 to 2806)
  AUTHORS   Kim J, Choi TI, Park S, Kim MH, Kim CH and Lee S.
  TITLE     Rnf220 cooperates with Zc4h2 to specify spinal progenitor domains
  JOURNAL   Development 145 (17) (2018)
   PUBMED   30177510
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2806)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   4  (bases 1 to 2806)
  AUTHORS   Pierani A, Moran-Rivard L, Sunshine MJ, Littman DR, Goulding M and
            Jessell TM.
  TITLE     Control of interneuron fate in the developing spinal cord by the
            progenitor homeodomain protein Dbx1
  JOURNAL   Neuron 29 (2), 367-384 (2001)
   PUBMED   11239429
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK131230.1, SRR1803616.119814.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2142680 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000332700.6/ ENSP00000331470.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK131230.1, AC089986.25 and AC079033.12.
            On May 17, 2019 this sequence version replaced NM_001004329.2.
FEATURES             Location/Qualifiers
     source          1..2806
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q12"
     gene            1..2806
                     /gene="DBX2"
                     /note="developing brain homeobox 2"
                     /db_xref="GeneID:440097"
                     /db_xref="HGNC:HGNC:33186"
     CDS             173..1192
                     /gene="DBX2"
                     /note="developing brain homeobox protein 2"
                     /codon_start=1
                     /product="homeobox protein DBX2"
                     /protein_id="NP_001004329.2"
                     /db_xref="CCDS:CCDS31781.1"
                     /db_xref="GeneID:440097"
                     /db_xref="HGNC:HGNC:33186"
                     /translation="MLPSAVAAHAGAYWDVVASSALLNLPAAPGFGNLGKSFLIENLLR
                     VGGAPTPRLQPPAPHDPATALATAGAQLRPLPASPVPLKLCPAAEQVSPAGAPYGTRWA
                     FQVLSPSADSARLPGRAPGDRDCTFQPSAPAPSKPFLLSTPPFYSACCGGSCRRPASST
                     AFPREESMLPLLTQDSNSKARRGILRRAVFSEDQRKALEKMFQKQKYISKTDRKKLAIN
                     LGLKESQVKIWFQNRRMKWRNSKEKEVLSNRCIQEVGLQEDPLSRSALGFPSPCPSIWD
                     VPQQHSSPRWRENSPEPSERLIQESSGAPPPEANSLQGALYLCSEEEAGSKGVLTGAV"
     misc_feature    1016..1126
                     /gene="DBX2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNG2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1508..1513
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DBX2"
                     /note="hexamer: ATTAAA"
     polyA_site      1531
                     /gene="DBX2"
                     /note="major polyA site"
     polyA_site      2724
                     /gene="DBX2"
                     /note="major polyA site"
ORIGIN
        1 atcgttccaa gtccgccgcc gtcccgggtg gcctttcctc cctgcctggc tccgcgcgct
       61 ccagccctgc gggaggcggc ggcgagaagc tgcggctctg ggtgcggtgc ggggcgcccg
      121 ggcgacaggc gggcgcaagg cgggcgcgca gcagaccggt tggcgccgca ctatgctccc
      181 cagcgcggtc gcagcccacg ccggtgcgta ctgggacgtt gtggcttcct ccgcgctcct
      241 caacctcccc gctgcgcccg gctttggcaa cctgggcaag agtttcctga tcgagaattt
      301 gctgcgggtc gggggcgccc caacgcccag gctgcagccg cccgcgcccc acgacccggc
      361 gaccgccctg gccaccgcgg gcgcgcagct ccggcccctg cctgctagcc cagttcccct
      421 aaagctgtgc cccgcagccg aacaagttag ccccgccggg gcgccctacg gaacgcggtg
      481 ggcttttcaa gtgctcagtc cctctgcgga cagtgcgagg ctgccgggcc gggctccggg
      541 ggaccgagac tgtaccttcc agccttcagc gccagcacct tccaaacctt tccttctgag
      601 caccccgcca ttctactcgg cgtgctgcgg tgggtcctgt cggcgccctg catcctccac
      661 tgcttttcca agagaagaga gcatgctgcc tctcctgaca caggactcta attccaaagc
      721 tcggaggggc attttaagaa gagctgtctt ttctgaggac cagagaaagg ctctggagaa
      781 aatgtttcag aaacagaaat atatcagcaa aacagaccga aagaaacttg ccatcaactt
      841 gggactaaag gaatcacagg tgaaaatttg gtttcagaac aggaggatga aatggcggaa
      901 ttccaaagaa aaggaagtgc tttccaacag gtgtatccaa gaagtaggtc ttcaagagga
      961 tcccctctca cggtctgctc tgggtttccc ttctccatgt ccttcaatat gggacgtccc
     1021 ccaacagcac tcaagtccaa gatggaggga gaattctcca gaaccttcag aaagactaat
     1081 ccaggagagt tcaggggcac cacccccaga agcaaattca ctgcaaggtg ccttatattt
     1141 atgttctgaa gaagaagctg gaagcaaggg tgtacttact ggggctgtct gaatggaagc
     1201 attcctccgt gttcatttaa aagaacgctt aatagtaaca tctggactct aatgccagct
     1261 agcttgtacc tcatcagtgc ttagagccta acaactttgg agcgatgtat gaactaatgc
     1321 tttaggaaac ccactctagt gttctcttgt ttggccctag actcaggctt aatttgtaag
     1381 tggaatagaa tctcccagca agtatgacag aactgaaaag aaggagagca acagctggct
     1441 cggtccctgc tctgagtatg tgtatatatg tgtttgtctc tatgtgtgtg tatatacata
     1501 aatatccatt aaaatgtatt agtagaaact agtttctctt taactattgc attgagtaaa
     1561 ttcacttcct tttatgtgaa gaaaactacc attgacagaa tgttattaac tttttgaaaa
     1621 taatgtaaaa tttggacttt agtgcaaact ttcatacccc aaaaacatgt ttttaaaaat
     1681 tctctatttt ctgacttctt ttggtatcca gctgtaagtg aattttaaca ccttagctca
     1741 gcagtcctca acaaatgagc cactgctaga tacatacact gagaatatat atttaaaatg
     1801 aacctaacaa gcaaattaga agaatttctg tatataacta ttagtatcct taatctccaa
     1861 gtctctggac catcgggcca tcatgaggga gagacccatt taactaataa ttattttttg
     1921 atctcttctc tgtaaagatg ggcctagacc agggtttgca aaataaaatg cctttaagag
     1981 cctgtcaggt aaatagaggg tatggcccac ccagagatat ttgagtcaag taatttttca
     2041 aatactgtat tggccaaaca aaatgtctat gccaagaagt ttgtgacctc tggctaagac
     2101 taaagaaagc cgtggtgtca cagttcttaa aatttttcta actggactta aaaccacaat
     2161 actaacagaa tcaatgatga tttctgtttg cgcttctagt tagggactca attttccact
     2221 taggtggcat acactttata tatcaggtta tttttatgta ttaacaaaca ccacacagat
     2281 gttttgtgtt ttttgactac cctgaaattg tatctttcta aaattgcatt tctggtaacg
     2341 atttgctgag ttaatccaga agtttttact ccaggaccaa gaagaaatta tgtttcactt
     2401 tgaaggaaat gaaacaaaaa taggaaatga tgtggttttg cattaaactc ttatcaatct
     2461 gtggacaaga aacactatca gaagttcatt aagtggcatt ttgttagtga gtaagctgca
     2521 taatgatggt ggcttctaat ttgctgaact ccactagagt ctgagaagtt aacgtctttt
     2581 gagggtttag tgtttagaaa agatatttca ggagataacg gttttaatca acagcaggaa
     2641 attattttgt acgaatagaa ttggacttgg tatgtcaacc tgtgtcttta ccacatgatc
     2701 ttttacttaa aagtcatttt agaagtgtgt ctcagtgcct cattgtgggg aatgggagca
     2761 gggatctgct gacaaaagtt aaaatttaaa acctgtctta aaatga
//
LOCUS       NM_001004333             603 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens ribonuclease K (RNASEK), transcript variant 1, mRNA.
ACCESSION   NM_001004333
VERSION     NM_001004333.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 603)
  AUTHORS   Wang L, Wu D, Robinson CV, Wu H and Fu TM.
  TITLE     Structures of a Complete Human V-ATPase Reveal Mechanisms of Its
            Assembly
  JOURNAL   Mol Cell 80 (3), 501-511 (2020)
   PUBMED   33065002
REFERENCE   2  (bases 1 to 603)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 603)
  AUTHORS   Vasanthakumar T and Rubinstein JL.
  TITLE     Structure and Roles of V-type ATPases
  JOURNAL   Trends Biochem Sci 45 (4), 295-307 (2020)
   PUBMED   32001091
  REMARK    Review article
REFERENCE   4  (bases 1 to 603)
  AUTHORS   Adamopoulos PG, Kontos CK, Scorilas A and Sideris DC.
  TITLE     Identification of novel alternative transcripts of the human
            Ribonuclease kappa (RNASEK) gene using 3' RACE and high-throughput
            sequencing approaches
  JOURNAL   Genomics 112 (1), 943-951 (2020)
   PUBMED   31200028
  REMARK    GeneRIF: Identification of novel alternative transcripts of the
            human Ribonuclease kappa (RNASEK) gene using 3' RACE and
            high-throughput sequencing approaches.
REFERENCE   5  (bases 1 to 603)
  AUTHORS   Kladi-Skandali A, Mavridis K, Scorilas A and Sideris DC.
  TITLE     Expressional profiling and clinical relevance of RNase kappa in
            prostate cancer: a novel indicator of favorable progression-free
            survival
  JOURNAL   J Cancer Res Clin Oncol 144 (10), 2049-2057 (2018)
   PUBMED   30054827
  REMARK    GeneRIF: Low Rnase K expression is associated with prostate cancer.
REFERENCE   6  (bases 1 to 603)
  AUTHORS   Shin SY, Fauman EB, Petersen AK, Krumsiek J, Santos R, Huang J,
            Arnold M, Erte I, Forgetta V, Yang TP, Walter K, Menni C, Chen L,
            Vasquez L, Valdes AM, Hyde CL, Wang V, Ziemek D, Roberts P, Xi L,
            Grundberg E, Waldenberger M, Richards JB, Mohney RP, Milburn MV,
            John SL, Trimmer J, Theis FJ, Overington JP, Suhre K, Brosnan MJ,
            Gieger C, Kastenmuller G, Spector TD and Soranzo N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   7  (bases 1 to 603)
  AUTHORS   Karousis ED and Sideris DC.
  TITLE     A subtle alternative splicing event gives rise to a widely expressed
            human RNase k isoform
  JOURNAL   PLoS One 9 (5), e96557 (2014)
   PUBMED   24797913
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 603)
  AUTHORS   Kiritsi MN, Fragoulis EG and Sideris DC.
  TITLE     Essential cysteine residues for human RNase kappa catalytic activity
  JOURNAL   FEBS J 279 (7), 1318-1326 (2012)
   PUBMED   22324914
  REMARK    GeneRIF: Data suggest that the Cys6-Cys69 disulfide bond is likely
            to exist in all RNase kappa family members, including human.
REFERENCE   9  (bases 1 to 603)
  AUTHORS   Economopoulou MA, Fragoulis EG and Sideris DC.
  TITLE     Molecular cloning and characterization of the human RNase kappa, an
            ortholog of Cc RNase
  JOURNAL   Nucleic Acids Res 35 (19), 6389-6398 (2007)
   PUBMED   17881363
  REMARK    GeneRIF: Based on sequence alignment and substrate specificity data,
            as well as the resistance of the protein to the placental
            ribonuclease inhibitor, the human RNase kappa may be a novel
            endoribonuclease distinct from other known ribonucleases.
REFERENCE   10  (bases 1 to 603)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CB125076.1, CD176959.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000593646.6/ ENSP00000468923.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC040977.10.
            On May 21, 2020 this sequence version replaced NM_001004333.4.
            Transcript Variant: This variant (1) encodes the supported protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..603
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..603
                     /gene="RNASEK"
                     /note="ribonuclease K"
                     /db_xref="GeneID:440400"
                     /db_xref="HGNC:HGNC:33911"
                     /db_xref="MIM:617098"
     CDS             61..357
                     /gene="RNASEK"
                     /EC_number="3.1.-.-"
                     /note="RNase kappa; ribonuclease, RNase K; V-ATPase subunit
                     f; V-type proton ATPase subunit f"
                     /codon_start=1
                     /product="ribonuclease kappa"
                     /protein_id="NP_001004333.3"
                     /db_xref="CCDS:CCDS45594.3"
                     /db_xref="GeneID:440400"
                     /db_xref="HGNC:HGNC:33911"
                     /db_xref="MIM:617098"
                     /translation="MASLLCCGPKLAACGIVLSAWGVIMLIMLGIFFNVHSAVLIEDVP
                     FTEKDFENGPQNIYNLYEQVSYNCFIAAGLYLLLGGFSFCQVRLNKRKEYMVR"
     regulatory      580..585
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNASEK"
                     /note="hexamer: AATAAA"
     polyA_site      603
                     /gene="RNASEK"
                     /note="major polyA site"
ORIGIN
        1 gctttctccc accgctttcc gagcccgctt gcacctcggc gatccccgac tcccttcttt
       61 atggcgtcgc tcctgtgctg tgggccgaag ctggccgcct gcggcatcgt cctcagcgcc
      121 tggggagtga tcatgttgat aatgctcgga atatttttca atgtccattc cgctgtgttg
      181 attgaggacg ttcccttcac ggagaaagat tttgagaatg gcccccagaa catatacaac
      241 ctttacgagc aagtcagcta caactgtttc atcgctgcag gcctttacct cctcctcgga
      301 ggcttctctt tctgccaagt tcggctcaat aagcgcaagg aatacatggt gcgctagggc
      361 cccggcgcgt ttccccgctc cagcccctcc tctatttaaa gactccctgc accgtgtcac
      421 ccaggtcgcg tcccaccctt gccggcgccc tctgcgggac tgggtttccc gggcgagaga
      481 ctgaatccct tctcccatct ctggcatccg gcccccgtgg agagggctga ggctgggggg
      541 ctgttccgtt tctccaccct tcgctgtgtc ccgtatctca ataaagagaa tctgctctct
      601 tca
//
LOCUS       NM_001004334            9165 bp    mRNA    linear   PRI 20-SEP-2023
DEFINITION  Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.
ACCESSION   NM_001004334
VERSION     NM_001004334.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9165)
  AUTHORS   Patil DN, Pantalone S, Cao Y, Laboute T, Novick SJ, Singh S, Savino
            S, Faravelli S, Magnani F, Griffin PR, Singh AK, Forneris F and
            Martemyanov KA.
  TITLE     Structure of the photoreceptor synaptic assembly of the
            extracellular matrix protein pikachurin with the orphan receptor
            GPR179
  JOURNAL   Sci Signal 16 (795), eadd9539 (2023)
   PUBMED   37490546
  REMARK    GeneRIF: Structure of the photoreceptor synaptic assembly of the
            extracellular matrix protein pikachurin with the orphan receptor
            GPR179.
REFERENCE   2  (bases 1 to 9165)
  AUTHORS   Orlandi C, Omori Y, Wang Y, Cao Y, Ueno A, Roux MJ, Condomitti G, de
            Wit J, Kanagawa M, Furukawa T and Martemyanov KA.
  TITLE     Transsynaptic Binding of Orphan Receptor GPR179 to
            Dystroglycan-Pikachurin Complex Is Essential for the Synaptic
            Organization of Photoreceptors
  JOURNAL   Cell Rep 25 (1), 130-145 (2018)
   PUBMED   30282023
  REMARK    GeneRIF: Authors identify that major components of the extracellular
            matrix proteins present in the synaptic cleft-members of the heparan
            sulfate proteoglycan (HSPG) family-associate with the GPR158/179
            group of orphan receptors.
REFERENCE   3  (bases 1 to 9165)
  AUTHORS   Dan H, Song X, Li J, Xing Y and Li T.
  TITLE     Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese
            patients with Schubert-Bornschein congenital stationary night
            blindness
  JOURNAL   Ophthalmic Genet 38 (3), 206-210 (2017)
   PUBMED   27428514
  REMARK    GeneRIF: In this study, a novel compound heterozygous mutation,
            c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3
            gene of a proband. No mutations were identified in the CABP4 or
            GPR179 gene.
REFERENCE   4  (bases 1 to 9165)
  AUTHORS   Klooster J, van Genderen MM, Yu M, Florijn RJ, Riemslag FC, Bergen
            AA, Gregg RG, Peachey NS and Kamermans M.
  TITLE     Ultrastructural localization of GPR179 and the impact of mutant
            forms on retinal function in CSNB1 patients and a mouse model
  JOURNAL   Invest Ophthalmol Vis Sci 54 (10), 6973-6981 (2013)
   PUBMED   24084093
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 9165)
  AUTHORS   Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M,
            Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM and van
            Genderen MM.
  TITLE     Genotype and phenotype of 101 dutch patients with congenital
            stationary night blindness
  JOURNAL   Ophthalmology 120 (10), 2072-2081 (2013)
   PUBMED   23714322
  REMARK    GeneRIF: We found 1 mutation in GPR179 in congenital stationary
            night blindness.
REFERENCE   6  (bases 1 to 9165)
  AUTHORS   Pharoah PD, Tsai YY, Ramus SJ, Phelan CM, Goode EL, Lawrenson K,
            Buckley M, Fridley BL, Tyrer JP, Shen H, Weber R, Karevan R, Larson
            MC, Song H, Tessier DC, Bacot F, Vincent D, Cunningham JM, Dennis J,
            Dicks E, Aben KK, Anton-Culver H, Antonenkova N, Armasu SM,
            Baglietto L, Bandera EV, Beckmann MW, Birrer MJ, Bloom G, Bogdanova
            N, Brenton JD, Brinton LA, Brooks-Wilson A, Brown R, Butzow R,
            Campbell I, Carney ME, Carvalho RS, Chang-Claude J, Chen YA, Chen Z,
            Chow WH, Cicek MS, Coetzee G, Cook LS, Cramer DW, Cybulski C,
            Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dork T, du Bois A,
            Durst M, Eccles D, Edwards R, Ekici AB, Fasching PA, Fenstermacher
            D, Flanagan J, Gao YT, Garcia-Closas M, Gentry-Maharaj A, Giles G,
            Gjyshi A, Gore M, Gronwald J, Guo Q, Halle MK, Harter P, Hein A,
            Heitz F, Hillemanns P, Hoatlin M, Hogdall E, Hogdall CK, Hosono S,
            Jakubowska A, Jensen A, Kalli KR, Karlan BY, Kelemen LE, Kiemeney
            LA, Kjaer SK, Konecny GE, Krakstad C, Kupryjanczyk J, Lambrechts D,
            Lambrechts S, Le ND, Lee N, Lee J, Leminen A, Lim BK, Lissowska J,
            Lubinski J, Lundvall L, Lurie G, Massuger LF, Matsuo K, McGuire V,
            McLaughlin JR, Menon U, Modugno F, Moysich KB, Nakanishi T, Narod
            SA, Ness RB, Nevanlinna H, Nickels S, Noushmehr H, Odunsi K, Olson
            S, Orlow I, Paul J, Pejovic T, Pelttari LM, Permuth-Wey J, Pike MC,
            Poole EM, Qu X, Risch HA, Rodriguez-Rodriguez L, Rossing MA, Rudolph
            A, Runnebaum I, Rzepecka IK, Salvesen HB, Schwaab I, Severi G, Shen
            H, Shridhar V, Shu XO, Sieh W, Southey MC, Spellman P, Tajima K, Teo
            SH, Terry KL, Thompson PJ, Timorek A, Tworoger SS, van Altena AM,
            van den Berg D, Vergote I, Vierkant RA, Vitonis AF, Wang-Gohrke S,
            Wentzensen N, Whittemore AS, Wik E, Winterhoff B, Woo YL, Wu AH,
            Yang HP, Zheng W, Ziogas A, Zulkifli F, Goodman MT, Hall P, Easton
            DF, Pearce CL, Berchuck A, Chenevix-Trench G, Iversen E, Monteiro
            AN, Gayther SA, Schildkraut JM and Sellers TA.
  CONSRTM   Australian Cancer Study; Australian Ovarian Cancer Study Group
  TITLE     GWAS meta-analysis and replication identifies three new
            susceptibility loci for ovarian cancer
  JOURNAL   Nat Genet 45 (4), 362-370 (2013)
   PUBMED   23535730
REFERENCE   7  (bases 1 to 9165)
  AUTHORS   Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T,
            Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone PM,
            Bojang P Jr, Pearring JN, Simonsz HJ, van Genderen M, Birch DG,
            Traboulsi EI, Dorfman A, Lopez I, Ren H, Goldberg AF, Nishina PM,
            Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M and
            Gregg RG.
  TITLE     GPR179 is required for depolarizing bipolar cell function and is
            mutated in autosomal-recessive complete congenital stationary night
            blindness
  JOURNAL   Am J Hum Genet 90 (2), 331-339 (2012)
   PUBMED   22325362
REFERENCE   8  (bases 1 to 9165)
  AUTHORS   Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S,
            Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME,
            Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP,
            Leroy BP, Munier FL, Mohand-Said S, Lorenz B, Friedburg C, Preising
            M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B,
            Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG,
            Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW,
            Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H,
            Poch O, Leveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS
            and Zeitz C.
  TITLE     Whole-exome sequencing identifies mutations in GPR179 leading to
            autosomal-recessive complete congenital stationary night blindness
  JOURNAL   Am J Hum Genet 90 (2), 321-330 (2012)
   PUBMED   22325361
  REMARK    GeneRIF: Additional screening with Sanger sequencing of 40 patients
            identified three other cCSNB patients harboring additional allelic
            mutations in GPR179. Erratum:[Am J Hum Genet. 2012 Jul 13;91(1):209]
REFERENCE   9  (bases 1 to 9165)
  AUTHORS   Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR,
            Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR,
            Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen
            CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K,
            FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham
            DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S,
            Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G,
            Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P,
            Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J,
            Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith
            C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker
            CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J,
            Lander ES and Nusbaum C.
  TITLE     DNA sequence of human chromosome 17 and analysis of rearrangement in
            the human lineage
  JOURNAL   Nature 440 (7087), 1045-1049 (2006)
   PUBMED   16625196
REFERENCE   10  (bases 1 to 9165)
  AUTHORS   Bjarnadottir TK, Fredriksson R and Schioth HB.
  TITLE     The gene repertoire and the common evolutionary history of
            glutamate, pheromone (V2R), taste(1) and other related G
            protein-coupled receptors
  JOURNAL   Gene 362, 70-84 (2005)
   PUBMED   16229975
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY584611.1 [ECO:0000332]
            RNAseq introns :: partial sample support SAMEA1968968, SAMEA2145245
            [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000616987.5/ ENSP00000483469.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC244092.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 5, 2019 this sequence version replaced NM_001004334.3.
            Summary: This gene encodes a member of the glutamate receptor
            subfamily of G protein-coupled receptors. The encoded protein has
            an EGF-like calcium binding domain and a seven transmembrane domain
            in the N-terminal region of the protein. Mutations in this gene are
            associated with congenital stationary night blindness type 1E.
            [provided by RefSeq, Apr 2012].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..9165
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..9165
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="G protein-coupled receptor 179"
                     /db_xref="GeneID:440435"
                     /db_xref="HGNC:HGNC:31371"
                     /db_xref="MIM:614515"
     misc_feature    72..74
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="upstream in-frame stop codon"
     CDS             168..7271
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="probable G-protein coupled receptor 179; GPR158-like
                     1; probable G-protein coupled receptor 158-like 1"
                     /codon_start=1
                     /product="probable G-protein coupled receptor 179
                     precursor"
                     /protein_id="NP_001004334.3"
                     /db_xref="CCDS:CCDS42308.1"
                     /db_xref="GeneID:440435"
                     /db_xref="HGNC:HGNC:31371"
                     /db_xref="MIM:614515"
                     /translation="MGTRGAVMPPPMWGLLGCCFVCAWALGGPRPIRSLPPLSSQVKPG
                     SVPMQVPLEGAEAALAYLYSGDAQQLSQVNCSERYEARGAGAMPGLPPSLQGAAGTLAQ
                     AANFLNMLLQANDIRESSVEEDVEWYQALVRSVAEGDPRVYRALLTFNPPPGASHLQLA
                     LQATRTGEETILQDLSGNWVQEENPPGDLDTPALKKRVLTNDLGSLGSPKWPQADGYVG
                     DTQQVRLSPPFLECQEGRLRPGWLITLSATFYGLKPDLSPEVRGQVQMDVDLQSVDINQ
                     CASGPGWYSNTHLCDLNSTQCVPLESQGFVLGRYLCRCRPGFYGASPSGGLEESDFQTT
                     GQFGFPEGRSGRLLQCLPCPEGCTSCMDATPCLVEEAAVLRAAVLACQACCMLAIFLSM
                     LVSYRCRRNKRIWASGVVLLETVLFGFLLLYFPVFILYFKPSVFRCIALRWVRLLGFAI
                     VYGTIILKLYRVLQLFLSRTAQRSALLSSGRLLRHLGLLLLPVLGFLAVWTVGALERGI
                     QHAPLVIRGHTPSGRHFYLCHHDRWDYIMVVAELLLLCWGSFLCYATRAVLSAFHEPRY
                     MGIALHNELLLSAAFHTARFVLVPSLHPDWTLLLFFFHTHSTVTTTLALIFIPKFWKLG
                     APPREEMVDEVCEDELDLQHSGSYLGSSIASAWSEHSLDPGDIRDELKKLYAQLEVHKT
                     KEMAANNPHLPKKRGSSCQGLGRSFMRYLAEFPEALARQHSRDSGSPGHGSLPGSSRRR
                     LLSSSLQEPEGTPALHKSRSTYDQRREQDPPLLDSLLRRKLAKKASRTESRESVEGPPA
                     LGFRSASAHNLTVGERLPRARPASLQKSLSVASSREKALLMASQAYLEETYRQAKEREE
                     RKKAKAAMASLVRRPSARRLERPRGAPLSAPPSPAKSSSVDSSHTSGRLHEEARRRLPH
                     PPIRHQVSTPILALSGGLGEPRMLSPTSTLAPALLPALAPTPAPALAPVPVSPQSPNLL
                     TYICPWENAELPAKQENVPQEGPSGPERGHHSPAPARARLWRALSVAVEKSRAGENEMD
                     AEDAHHQREANDVDEDRPKIFPKSHSLKAPVQQGSMRSLGLAIKALTRSRSTYREKESV
                     EESPEGQNSGTAGESMGAPSRSPRLGRPKAVSKQAALIPSDDKESLQNQQNAHTSRMLQ
                     VCQREGSREQEDRGRRMTQGLGERKAERAGKTGLAMLRQVSRDKNIKQSKETPVGWQEL
                     PKAGLQSLGSADHRVAEVCPWEVTESETRQPDSGNKAEICPWETSEGAPESRALRQDPG
                     DSQKKRGEARGKSEPIDVVPMMRKKPERLVREQEAVCPWESADRGGLSPGSAPQDPGRI
                     RDKSEAGDSVEARKVEKPGWEAAGPEAHTPDITKAEPCPWEASEGGEDGKPAQEAVKDL
                     PQEKQKTRKATFWKEQKPGGDLESLCPWESTDFRGPSAVSIQAPGSSECSGSLGSGIAE
                     VCLWEAGDAPAIQKAEICPWELDDNVMGQEMLSLGTGRESLQEKEKASRKGSFGEMGEQ
                     TVKAVQKLSQQQESVCPRESTVPGHSSPCLDNSSSKAGSQFLCNGGSRATQVCPQEDLR
                     PEAQEATPAKTEICPWEVNERTREEWTSAQVPRGGESQKDKEKMPGKSEIEDVTAWEKP
                     EGQIQKQEAVGPWESVDPGSFSPQPRPQDTERPQTLLQMSGSVGSKAADICPLDVEENL
                     TAGKAEICPWEVGAGAGEERALGAEAIRKSPNDTGKVSADLGPRERAVTAPEKPQKPTP
                     EWEVACPWGSVGPGACSQHPGTLDADGPKAGFQELDHMGCRPGEVCPWEAQEAATSEKA
                     KICPWEVSEGTTGKGLDQKAGSESAEQREKALEKGRLTSLGEDVSKGMAKLCQQQETIC
                     IWENKDLRESPAQAPKISDLPSSMSSEVAEGHSLEATEKGDLRQDPKTGSFPEHITQEK
                     APAADTEEFTTEDGEKTSHELQSVCPWETTAPADSVSHLDRQRPDQPKASSQRLVSTGG
                     RAADVCPWDVPDAGVYKSDSSAKAETCPWEVTERIPVKGVSRQDGKGDSQEEKGRAPEK
                     SEPKGVPVQKKPEMADFRQQEAVCPWESQDGKGLSPQPAPDASDRSRGSSEAAGSVETR
                     VAEVCLWEVVEAPSAKKAEICPWEAGGGAAEEGEQERESQGQGEMFLQKAGPGGTEEHF
                     SKAAAKPREQEAVCPGEGTGSGGLLPQSGALDPELKVSPKEAGSMGSRMAELCQWEITD
                     PEGNKIKGTMADICPGEETGVPSEESGLLALTATRREFFPTAPEKPLCLLVHGPLDHFF
                     PESKIPCPKVSRPASTFTLEGVRELQGPSGLEPRTSLAPEPSLQEAESQSSSLTEDSGQ
                     VAFEAQYEEFTPPTVYPWDWE"
     sig_peptide     168..242
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     243..7268
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /product="Probable G-protein coupled receptor 179.
                     /id=PRO_0000045397"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2)"
     misc_feature    351..902
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     Region: Cache-like region.
                     /evidence=ECO:0000250|UniProtKB:Q5T848"
     misc_feature    390..392
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6PRD1.2); glycosylation site"
     misc_feature    1059..1061
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6PRD1.2); glycosylation site"
     misc_feature    1311..1373
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     transmembrane region"
     misc_feature    1413..1475
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     transmembrane region"
     misc_feature    1500..1562
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     transmembrane region"
     misc_feature    1647..1709
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     transmembrane region"
     misc_feature    1797..1859
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     transmembrane region"
     misc_feature    1893..1949
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     transmembrane region"
     misc_feature    1989..2051
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     transmembrane region"
     misc_feature    2358..2621
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2772..2963
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3282..3416
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3459..3761
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3906..4460
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4776..4838
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4896..5183
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5334..5438
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5634..5723
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5823..6491
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    6564..6803
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    7089..7268
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      9144..9149
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="hexamer: AATAAA"
     polyA_site      9165
                     /gene="GPR179"
                     /gene_synonym="CSNB1E; GPR158L; GPR158L1"
                     /note="major polyA site"
ORIGIN
        1 gagaagaaaa aagcaggcga gctggcacca gcgtgagagg gagacggaga gaggaagaag
       61 gaacgccagc ataggaggcg tggaggccga cagcccccag actgcagcca gcctctgcct
      121 gggctctcct gagcctggac cccagggtcc tgagagctgc cccaaggatg ggcaccaggg
      181 gagcggtcat gccccctcct atgtgggggc tgctgggctg ctgttttgtc tgtgcctggg
      241 ctctgggggg tccacggccc atccgctctc tgccccctct gtcttcccaa gtcaagccag
      301 gatctgtacc catgcaggtg cccctagagg gggccgaggc cgccctcgct tatctctact
      361 ctggagatgc ccagcagcta tcacaggtga attgcagtga gcgctatgaa gcgcgtgggg
      421 caggagccat gccagggctc cccccaagcc tacagggggc agcgggcacc cttgcccagg
      481 ccgccaattt tctcaacatg ctgctgcaag ccaacgacat ccgtgagtcc agtgtggagg
      541 aggatgtgga atggtaccag gcactggtcc gcagcgtggc cgagggggac ccaagagtgt
      601 acagggcttt gctgaccttt aaccctccac caggggccag ccacctacag ctggccctgc
      661 aggccacccg gactggggag gaaaccatcc tgcaggactt gtctgggaac tgggtgcagg
      721 aggagaaccc tcctggggac ctggacaccc ctgccctgaa gaagcgagtg ttgaccaatg
      781 acctagggag cctcggcagc cccaagtggc cgcaggcaga tggatatgtg ggggacacgc
      841 agcaggtgag gctgtctcct cctttcctgg aatgccagga gggacggctc cgacctggat
      901 ggctgatcac actctctgcc accttctatg gactcaagcc agacctcagc ccagaagtca
      961 gggggcaggt gcagatggac gtagatctcc agagtgtgga catcaatcag tgtgcaagtg
     1021 gcccaggctg gtactctaac acacacctgt gtgatctcaa cagcacccag tgtgtccccc
     1081 tggagagtca gggctttgtt cttggccgct acctctgccg ctgccgacct ggattctacg
     1141 gggcaagccc ctctgggggg ttagaggaga gtgacttcca gactaccggg caattcgggt
     1201 tcccagaagg cagatctggg agactgctgc agtgtctgcc atgtcctgag ggctgcacca
     1261 gctgcatgga tgccacaccg tgcctggtgg aagaggccgc ggtgctgcgg gccgctgtgc
     1321 tggcctgcca ggcctgctgc atgctggcca tcttcctgag catgctggtc tcctaccgct
     1381 gccgccggaa caagaggatc tgggcatctg gagtggtcct gctggaaact gtcctttttg
     1441 gattcctgct gctttacttt cctgtcttca tcctatactt caagcccagt gtattccgct
     1501 gcatcgctct tcgctgggtg cggctgctgg gttttgccat cgtctacggc accatcatac
     1561 tcaagcttta cagagtgctg cagctgtttc tgtctcgaac ggcccagcgg agtgcccttc
     1621 tgagcagcgg gcggctgctg cggcacctgg ggctgctcct gctacctgtg ctgggcttcc
     1681 tggctgtgtg gaccgtgggc gccctggagc gaggcatcca gcacgcacct ctggtgatcc
     1741 gaggccacac tcccagtggc cgccatttct acctctgtca ccacgaccgc tgggactaca
     1801 tcatggttgt ggctgagctg ctgctgctgt gctggggcag cttcctctgc tacgccacac
     1861 gggctgtgct ctcggccttc catgagccac gctacatggg catcgccctg cacaatgagc
     1921 tactgctttc cgctgccttc cacacagcca ggtttgtgct ggttccctct ctgcacccgg
     1981 actggaccct cctcctcttc ttcttccaca cccacagcac agtcaccacc acgctggctc
     2041 tgatcttcat ccctaagttc tggaagctgg gggctcctcc ccgggaggag atggtggatg
     2101 aggtgtgtga ggacgagctg gacctgcagc actcaggctc ctaccttggc agcagcatcg
     2161 cctcagcctg gagtgagcac agcctggacc ctggagacat tcgggacgag ctgaagaagc
     2221 tctatgccca gctagaggtc cacaaaacca aggaaatggc cgcaaacaac ccccacctgc
     2281 ccaagaagcg aggcagctca tgccagggac tgggccgctc cttcatgagg tacctggcgg
     2341 aattccccga ggccctggcc aggcagcact cccgggactc aggatcccca ggccacggca
     2401 gcctgcccgg ctcctcccgc cgccggctcc tcagctccag cctccaggaa cccgagggga
     2461 caccagctct gcacaagtcc cgcagcacct atgaccagcg cagggagcag gacccgcctc
     2521 ttcttgactc actgctgagg aggaagctgg ccaagaaggc ctctcgaaca gagagccggg
     2581 agtcggtgga ggggccccct gccctgggct tcaggtcagc cagcgcccac aacctgacgg
     2641 tgggagagag gctacccaga gcccggcccg cctctctgca gaagtcgctc agtgtggcca
     2701 gctccaggga aaaggccttg ctcatggcca gccaggccta cctggaggag acctaccggc
     2761 aagcaaagga gcgggaggag cggaagaagg ccaaggcagc catggccagc ctggtgcgga
     2821 ggccatcagc caggaggctg gagcggcctc gaggggcccc cctgtcagct ccaccttccc
     2881 ctgccaagag cagcagcgtg gacagctctc acacctctgg gaggcttcat gaggaggcta
     2941 ggagaaggct gcctcatcca cccatcaggc accaggtttc tacccccatc ttggccctgt
     3001 ctgggggcct gggagagcca aggatgctat ctcccacctc caccttggct ccagctctgc
     3061 tgccagctct agctccaacc ccagcccctg ccctggcacc agtcccagta tccccacaaa
     3121 gccccaactt actcacctac atctgcccct gggagaacgc agaactgcca gccaagcaag
     3181 aaaatgtgcc ccaggaaggc ccctcagggc cagagcgagg ccaccactcc cctgccccag
     3241 ctcgagccag gctctggagg gccctctctg ttgcagtaga gaaaagcagg gctggggaga
     3301 atgagatgga cgcagaggat gcacatcacc agagggaagc taatgatgtg gacgaagaca
     3361 ggcccaagat cttccctaaa tcccacagcc tcaaggcccc tgttcagcag ggttccatgc
     3421 gcagcctggg gctggcgatt aaagctctga cccgttctcg gagcacctac agagagaagg
     3481 agagtgtgga ggagagtccc gaggggcaga acagcgggac tgcgggagag agtatggggg
     3541 caccctcccg atcgcccagg ctaggccggc ccaaggcggt gagtaagcag gccgctctta
     3601 tcccctccga tgacaaggag tccctccaga accaacagaa cgctcacacc agcaggatgc
     3661 tccaagtctg tcaacgggag ggcagcaggg aacaagaaga cagaggcagg aggatgaccc
     3721 agggtctagg ggaacggaaa gctgagagag caggtaaaac agggcttgcc atgctgaggc
     3781 aagtttccag ggacaaaaac atcaagcaat caaaagaaac ccctgtcggg tggcaggaac
     3841 tgcccaaagc tggcctccag tccctgggca gcgctgacca cagggtggca gaggtatgcc
     3901 cctgggaggt cactgaatca gaaacgcgtc agccagacag tggcaacaag gccgaaatct
     3961 gcccctggga gacgagtgaa ggagccccag agtcgagggc actaagacaa gacccaggtg
     4021 actcccaaaa aaagagaggg gaggcccggg gaaaatcaga gcccatagat gtggttccca
     4081 tgatgcggaa aaagccagag aggctggtga gggagcagga agcagtgtgt ccctgggaga
     4141 gtgccgatcg aggaggtctg tcccctgggt cagctcctca ggaccctggc agaatcagag
     4201 acaaatctga ggcgggggac agtgtggagg ccaggaaggt ggagaagcct gggtgggaag
     4261 ctgctggccc agaagctcat acccctgaca tcaccaaggc agagccgtgt ccctgggagg
     4321 caagtgaagg aggcgaggat gggaaaccag cccaagaggc agtgaaggat ctccctcagg
     4381 aaaagcagaa aaccaggaaa gcaacctttt ggaaagaaca gaaaccggga ggagacttgg
     4441 agtctctttg tccatgggag agtacagatt tccggggccc ctcagcagtc tcaattcagg
     4501 ccccaggaag ctcagagtgt tcagggagtt tgggcagtgg cattgctgaa gtgtgtctgt
     4561 gggaggcagg agatgctcct gctatccaga aagcagagat ctgtccctgg gagctggatg
     4621 ataacgtgat ggggcaggaa atgctgagtc tggggacagg tagagaatct cttcaagaaa
     4681 aggaaaaagc ctccagaaaa ggaagctttg gagagatggg ggaacaaact gtgaaagcag
     4741 tgcagaaatt aagtcaacag caggagtcag tttgtcccag ggagagcacg gtccctgggc
     4801 actccagccc atgtctagac aattcctcat ccaaagctgg tagccaattc ctatgcaatg
     4861 gaggaagcag agcaacgcag gtgtgtccac aggaagatct caggccggag gcacaggaag
     4921 caacacctgc caaaacagaa atctgtccct gggaggtaaa tgaaagaaca agagaggaat
     4981 ggacatcagc acaggtgcca agaggaggag aatctcaaaa ggacaaggag aaaatgcctg
     5041 gaaaatcgga aatcgaagat gtcacagctt gggaaaagcc tgaggggcag atccaaaagc
     5101 aagaagcggt cggcccctgg gagagtgtgg accctggcag cttctcccca caaccacgtc
     5161 ctcaagacac agagagaccc caaacccttc tccagatgtc aggcagtgtg ggaagcaaag
     5221 ctgccgacat ttgccctttg gatgtggagg aaaacttgac tgctgggaag gcagaaatct
     5281 gtccctggga ggtgggtgct ggagcagggg aggaaagggc tttgggagct gaggccatta
     5341 ggaaatctcc aaatgataca ggcaaggttt ctgcagatct tggacccagg gagagagctg
     5401 ttactgctcc agagaagcca cagaagccaa ccccagagtg ggaggtggct tgtccctggg
     5461 ggagtgtggg tccaggggcc tgttctcagc atccaggtac tctagatgct gatggaccaa
     5521 aagctgggtt ccaggaactg gatcatatgg gctgcaggcc aggtgaagtg tgtccctggg
     5581 aagcacagga agctgctacc agtgaaaaag ccaagatctg tccctgggag gtaagtgaag
     5641 gaactactgg gaagggattg gaccaaaagg cagggagtga atcagcagag cagagggaga
     5701 aagctctaga aaaggggaga ctcacttccc tgggagaaga cgtatcaaaa gggatggcaa
     5761 aactgtgtca acaacaggaa actatttgta tttgggagaa caaggacttg agggaatccc
     5821 ctgctcaggc ccccaagatc tcagacttgc ccagcagcat gagtagtgaa gtggcagagg
     5881 gacattcctt ggaagcaaca gagaaggggg acctgagaca agacccaaag acaggttcct
     5941 tcccagaaca cataacccaa gaaaaagctc cagctgcaga cacagaagaa ttcactactg
     6001 aagatgggga aaaaacaagc catgagctac aatccgtctg tccatgggag accactgccc
     6061 cagcagattc cgtctctcac ctagacagac agcgccctga ccaacctaaa gctagctccc
     6121 agagactggt cagcactggg ggcagggccg ctgacgtgtg cccatgggat gttcctgatg
     6181 caggtgtgta taaatctgac agcagtgcca aggctgagac ctgtccctgg gaagtgactg
     6241 aaagaatccc tgtcaaaggg gtgtcaaggc aggatggaaa aggggactct caagaagaga
     6301 aaggcagagc cccagaaaaa tcagagccaa aaggtgtgcc agttcagaaa aagccagaga
     6361 tggcagactt caggcagcag gaggctgtgt gtccctggga gagtcaagat ggcaagggtc
     6421 tgtccccaca gccagcccca gatgcttctg acagaagcag aggcagttct gaggcagcag
     6481 gcagtgtgga gaccagggta gcggaagtgt gtctgtggga agtggtagag gctccctctg
     6541 ccaagaaagc agagatctgc ccttgggagg cgggtggagg agcagcagag gaaggggaac
     6601 aggaaagaga atcacaaggg caaggagaga tgttccttca gaaggcagga cctggaggga
     6661 cggaagaaca cttctcaaaa gcagcagcaa agcccagaga gcaggaggca gtctgccctg
     6721 gggaaggcac aggctcagga gggctcttgc cccagtcagg tgccctggac ccagaactca
     6781 aagtcagccc caaggaagca ggcagcatgg gaagcaggat ggcagagctg tgccaatggg
     6841 aaatcacaga tccagaagga aataaaataa agggtaccat ggcagacatc tgtcctgggg
     6901 aggaaactgg agtcccatct gaggaatctg gcctcctggc tttaacagca actcggagag
     6961 aatttttccc cacagctcct gaaaaaccac tatgcctttt agtccatggg cctctggatc
     7021 acttctttcc agaaagcaaa atcccctgcc ccaaggtaag caggccagcc agtactttca
     7081 ctctagaagg tgtcagagaa ctacaaggac cttcagggct tgagccaagg accagcttag
     7141 ccccagagcc aagtctccag gaagctgagt ctcagtcttc gtccttaact gaagactcag
     7201 gccaagtggc ttttgaagct cagtatgaag aattcacccc tcccactgtc tatccttggg
     7261 attgggagta acagccttat taggtgaggt caaacacaga gctagctttc aggagccaag
     7321 gccctttcca agtccaggtg ttcccaaaga gctgaatcaa agacagcttg gccacttccc
     7381 ctccttgaga agaccagaag tcaacccatc ccaaagacaa actgcatgaa aagggtacag
     7441 cttagacccc aatgggaagg cccaccctct ctttacttct aacttttctt cctgtttgag
     7501 gaaacaaaga ctggacactc tacttctaag gacgcctccc atccacctac agtactcaca
     7561 acacaaacca cccgagtctg gacactcacc cacaaagcca ctgttaggga tgaaaaaagt
     7621 cagttgtgcc cagcctacct tctctcacag ggggacccaa ttctctgaag tctacgatgg
     7681 agcatttttt gagaagaaac taaaccatac aaagtgttgg caacgtaggg atggtggacc
     7741 acagaaggct ataaaggcca ccatagaaag ctgaagagcc atttaattga agcggaagat
     7801 aaattggggg aaaagctaaa atgactcaaa ataggggcct gaaaatgctt taaggacctt
     7861 gtcattttga ctttgaatct cctgtttctg ctttattgct tctcatacct gccctgcttg
     7921 actgctgaag cagaaacaat caggcacgct gacaccctta tcagcatctg gcatccaaag
     7981 caacatcaga gagagagaac acagaagaaa agcaattgcc ccaggtcctc cccacagtca
     8041 agggagctct tccttccaga catccttgtg tgcctcttgc tagtttttta gggggtctcc
     8101 ccctcttcct gccctagctc tcaccagtct ccagagctcg tctcactggc tcatttcctt
     8161 ccccctagct tttcagcgct gccatcaaca ggacctctct cttttgtcaa ggcaactgga
     8221 gtcaagggga atctctggtt ctgatgcaag acccatccac cctcccccac ccctccccgc
     8281 ccaagaatca cttgctcagt aacaagaggc cacatcaatc tccttccaga ggagctcaag
     8341 aaaggcagtc ctgtacacag ccagcactct acttcttctg ccctctaaaa gaggagtgct
     8401 acagggcaag ttagaagcct gagagctggg aaaagggcac tgtgtgaaga caaagccttc
     8461 tttcttaggg agctctctct ttcttggctc ccttctctcg tcagttcagg ctacacttgc
     8521 ttaagcagta ctagattaca aattgctggg attagatgat aataccagag ggaaaggaag
     8581 aaggagaaaa acatacaaag aagtcccaag attggcaaag ggaggtggga gaggggggaa
     8641 ggggcagcta gagaaggcag agctgcacag gggcactaaa gatggcagta agtcacgccc
     8701 tctaacagta caacagtaca gacattgatg tcattcatgg ggagaaaaag acaaacaggg
     8761 agaccaaata cccaaaggga aaaagagcca ttaacatcta gtctgcatgt aaatatgctg
     8821 ggcggttatg ggacttcaca gagaaagtaa aaaagtactc catttccaaa agggaacaga
     8881 ggaatggagt aacctactct cctttgggga ccagatgtcc tcattctctt acctagggcc
     8941 cttattctgg gcttttggag cagtaattga agtgtgttgt tgttctgggc tctggctagt
     9001 tagccttacg gcttctgagc taaagtggat tttgctgtgc accccaaaac aatcccattg
     9061 ggtctggtct agctggaaac agcaaagttg ccgccaaaca cactcttgtg aaataaacca
     9121 tggggtgggg ggggcggggc ggaaataaag aatgcttttt cttga
//
LOCUS       NM_001004339            4445 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zyg-11 family member A, cell cycle regulator (ZYG11A),
            transcript variant 1, mRNA.
ACCESSION   NM_001004339
VERSION     NM_001004339.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4445)
  AUTHORS   Achlaug L, Somri-Gannam L, Meisel-Sharon S, Sarfstein R, Dixit M,
            Yakar S, Hallak M, Laron Z, Werner H and Bruchim I.
  TITLE     ZYG11A Is Expressed in Epithelial Ovarian Cancer and Correlates With
            Low Grade Disease
  JOURNAL   Front Endocrinol (Lausanne) 12, 688104 (2021)
   PUBMED   34220714
  REMARK    GeneRIF: ZYG11A Is Expressed in Epithelial Ovarian Cancer and
            Correlates With Low Grade Disease. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4445)
  AUTHORS   Charoensuk C, Thamtarana PJ, Chanprasert C, Tangjittipokin W,
            Shirakawa J, Togashi Y, Orime K, Songprakhon P, Chaichana C,
            Abubakar Z, Ouying P, Sujjitjoon J, Doria A, Plengvidhya N and
            Yenchitsomanus PT.
  TITLE     Autosomal dominant diabetes associated with a novel ZYG11A mutation
            resulting in cell cycle arrest in beta-cells
  JOURNAL   Mol Cell Endocrinol 522, 111126 (2021)
   PUBMED   33321115
  REMARK    GeneRIF: Autosomal dominant diabetes associated with a novel ZYG11A
            mutation resulting in cell cycle arrest in beta-cells.
REFERENCE   3  (bases 1 to 4445)
  AUTHORS   Balachandran RS, Heighington CS, Starostina NG, Anderson JW, Owen
            DL, Vasudevan S and Kipreos ET.
  TITLE     The ubiquitin ligase CRL2ZYG11 targets cyclin B1 for degradation in
            a conserved pathway that facilitates mitotic slippage
  JOURNAL   J Cell Biol 215 (2), 151-166 (2016)
   PUBMED   27810909
  REMARK    GeneRIF: the ubiquitin ligase CRL2(ZYG-11) redundantly targets the
            degradation of cyclin B1 in Caenorhabditis elegans and human cells.
REFERENCE   4  (bases 1 to 4445)
  AUTHORS   Wang X, Sun Q, Chen C, Yin R, Huang X, Wang X, Shi R, Xu L and Ren
            B.
  TITLE     ZYG11A serves as an oncogene in non-small cell lung cancer and
            influences CCNE1 expression
  JOURNAL   Oncotarget 7 (7), 8029-8042 (2016)
   PUBMED   26771237
  REMARK    GeneRIF: Over-expression of ZYG11A is associated with non-small cell
            lung cancer.
REFERENCE   5  (bases 1 to 4445)
  AUTHORS   Feral C, Wu YQ, Pawlak A and Guellaen G.
  TITLE     Meiotic human sperm cells express a leucine-rich homologue of
            Caenorhabditis elegans early embryogenesis gene, Zyg-11
  JOURNAL   Mol Hum Reprod 7 (12), 1115-1122 (2001)
   PUBMED   11719588
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371528.2/ ENSP00000360583.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY271826.1, BC119815.1, AC099677.2 and AI638616.1.
            On May 17, 2019 this sequence version replaced NM_001004339.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4445
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     gene            1..4445
                     /gene="ZYG11A"
                     /gene_synonym="ZYG11"
                     /note="zyg-11 family member A, cell cycle regulator"
                     /db_xref="GeneID:440590"
                     /db_xref="HGNC:HGNC:32058"
                     /db_xref="MIM:618675"
     misc_feature    101..103
                     /gene="ZYG11A"
                     /gene_synonym="ZYG11"
                     /note="upstream in-frame stop codon"
     CDS             125..2404
                     /gene="ZYG11A"
                     /gene_synonym="ZYG11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein zyg-11 homolog A; ZYG-11A early embryogenesis
                     protein"
                     /codon_start=1
                     /product="protein zyg-11 homolog A isoform 1"
                     /protein_id="NP_001004339.2"
                     /db_xref="CCDS:CCDS44148.1"
                     /db_xref="GeneID:440590"
                     /db_xref="HGNC:HGNC:32058"
                     /db_xref="MIM:618675"
                     /translation="MVHFLHPGHTPRNIVPPDAQKDALGCCVVQEEASPYTLVNICLNV
                     LIANLEKLCSERPDGTLCLPEHWSFPQEVAERFLRVMTWQGKLTDRTASIFRGNQMKLK
                     LVNIQKAKISTAAFIKAFCRHKLIELNATAVHADLPVPDIISGLCSNRWIQQNLQCLLL
                     DSTSIPQNSRLLFFSQLTGLRILSVFNVCFHTEDLANVSQLPRLESLDISNTLVTDISA
                     LLTCKDRLKSLTMHYLKCLAMTKSQILAVIRELKCLLHLDISDHRQLKSDLAFHLLQQK
                     DILPNVVSLDISGGNCITDEAVELFIRLRPAMQFVGLLATDAGSSDFFTTKQGLRVAGG
                     ASMSQISEALSRYRNRSCFVKEALHRLFTETFSMEVTMPAILKLVAIGMRNHPLDLRVQ
                     FTASACALNLTRQGLAKGMPVRLLSEVTCLLFKALKNFPHYQQLQKNCLLSLTNSRILV
                     DVPFDRFDAAKFVMRWLCKHENPKMQTMAVSVTSILALQLSPEQTAQLEELFMAVKELL
                     AIVKQKTTENLDDVTFLFTLKALWNLTDGSPAACKHFIENQGLQIFIQVLETFSESAIQ
                     SKVLGLLNNIAEVRELSSKLVTEDVLKHINSLLCSREMEVSYFAAGIIAHLTSDRQLWI
                     SRDFQRRTLLQDLHATIQNWPSSSCKMTALVTYRSFKTFFPLLGNFSQPEVQLWALWAM
                     YHVCSKNPSKYCKMLVEEEGLQLLCDIQEHSEATPKAQQIAASILDDFRMHFMNYQRPT
                     LCQMPF"
     misc_feature    734..805
                     /gene="ZYG11A"
                     /gene_synonym="ZYG11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6WRX3.3);
                     Region: LRR 1"
     misc_feature    827..904
                     /gene="ZYG11A"
                     /gene_synonym="ZYG11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6WRX3.3);
                     Region: LRR 2"
     misc_feature    1592..1663
                     /gene="ZYG11A"
                     /gene_synonym="ZYG11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6WRX3.3);
                     Region: LRR 3"
     regulatory      3994..3999
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZYG11A"
                     /gene_synonym="ZYG11"
                     /note="hexamer: AATAAA"
     regulatory      4000..4005
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZYG11A"
                     /gene_synonym="ZYG11"
                     /note="hexamer: AGTAAA"
     polyA_site      4019
                     /gene="ZYG11A"
                     /gene_synonym="ZYG11"
                     /note="major polyA site"
     polyA_site      4030
                     /gene="ZYG11A"
                     /gene_synonym="ZYG11"
ORIGIN
        1 gctagctccg tgtgcctcgc aggcgtggtg ggcgcgtcct ggcagccgcc cgcttggttc
       61 tcgcgggatc cgggctccgg ctcgacgccg gctctctttt tgacgccccg ccgccggggt
      121 tgccatggtt catttcttgc acccgggcca cacgccccgg aacatcgtcc ctcctgacgc
      181 tcagaaggat gccctgggct gctgcgtggt acaggaagag gcatctccct acactttggt
      241 caacatctgc ctgaatgtcc tgattgctaa cctggagaaa ttgtgttctg aaagacctga
      301 tggaacactg tgccttccgg agcattggag tttccctcag gaagtagccg agcgatttct
      361 cagggtgatg acttggcaag gcaagctgac tgacagaaca gccagcattt tccgaggcaa
      421 ccaaatgaaa ctgaagctgg tcaatatcca aaaagctaaa atctctacag ctgcattcat
      481 aaaagccttc tgccgtcata agctcattga actgaatgct actgcagtgc acgctgacct
      541 cccagttcca gacatcataa gtggactctg cagcaatagg tggatccagc aaaacctcca
      601 gtgtctcctg ttagactcga caagcatccc tcaaaattca agattactgt tctttagtca
      661 gctcactggt cttcgcattt taagtgtttt taatgtttgt tttcatactg aagacctggc
      721 taatgtttct cagttaccaa gactggaaag cttagatatc tctaatactc tagtcactga
      781 tatttctgca ctgcttacct gtaaggatcg attgaagtct ctcacaatgc actatctgaa
      841 atgcctggcc atgaccaaat cacaaattct tgcagtcatt agagaactta aatgtctgct
      901 tcaccttgat atttctgatc acaggcaact caaatcagac ctagcttttc atttgctaca
      961 gcagaaggat atcctgccca atgttgtgtc attggatatt tctgggggca attgcatcac
     1021 tgatgaagct gtagaactgt ttatacgact gcggcctgcc atgcaatttg tgggactatt
     1081 ggccacggat gctggctctt ctgacttctt tactacaaag caaggcttga gggttgctgg
     1141 aggagccagt atgagtcaga tttcagaagc actgagccga tacaggaaca gatcatgttt
     1201 tgtgaaggaa gccctccaca ggctgttcac agagacattt tcaatggagg taaccatgcc
     1261 tgctatttta aagcttgtgg ctataggaat gaggaatcac ccattggatt tgcgagtgca
     1321 gttcacagcc agtgcttgcg ctctcaacct aacacgccag ggcctggcca aggggatgcc
     1381 tgttcgcctg ttgtcagagg tcacctgtct acttttcaag gctctgaaaa atttccccca
     1441 ttaccagcag ttacagaaga attgtcttct ctccttaacc aattccagga ttcttgtgga
     1501 tgttccattt gacaggtttg atgctgccaa gtttgtcatg agatggctct gtaagcatga
     1561 aaaccccaag atgcaaacaa tggcagtgag tgtcacctct attctggctc tgcagctctc
     1621 acctgagcaa acggcacagc ttgaagagct tttcatggca gttaaggaac ttctagcaat
     1681 agtaaaacaa aagactactg agaatttaga tgatgtcacc ttcttgttta ctttgaaagc
     1741 actttggaat cttacagatg ggtctccagc tgcctgcaag cacttcattg aaaatcaagg
     1801 attgcaaatc ttcatccaag tcttggagac cttttcagag tcagcaatac aaagcaaagt
     1861 acttggtctt ttgaacaaca tagcagaagt cagagagctc tcttccaagc tggtgaccga
     1921 agatgtgctg aagcatatca acagtttact ctgtagcagg gaaatggaag tcagctattt
     1981 tgctgcaggt atcatagccc acctgacatc tgacagacag ctttggatat cccgtgactt
     2041 ccagaggcgt actcttctcc aagatctgca tgcaaccata cagaattggc caagttcaag
     2101 ttgtaagatg acagcattgg tgacctatag atctttcaag acatttttcc cgctccttgg
     2161 caacttctct caaccagagg ttcagctctg ggcactatgg gctatgtatc atgtctgcag
     2221 taaaaatccc agcaaatact gcaaaatgtt agttgaagaa gaaggattgc agcttttgtg
     2281 tgatatccag gagcacagtg aggcaacccc caaagcacag cagattgcag cctccattct
     2341 ggatgacttc agaatgcatt tcatgaatta tcagaggccc actctgtgtc aaatgccctt
     2401 ctgaacctaa ggaatttcag aggtgtgtgc tcttcctcaa tgtcaggtgt tctgccctgg
     2461 cagtaattgc acatcagttg tcattggagt ttgtgagttg gctgtctcat tggcctttga
     2521 ttgttgattt tatatatgtt acaaaaggtt ggatttgtat gatagctgta atcccaagtc
     2581 aagttggact cattctgcag cctttcagca gcaattttga agactcaaac cgtggactct
     2641 gggaaggcct gggagcttgt gttggaacag ctatgcaagt tacttttctc tagccttgga
     2701 caattttttc cctttgggag cttgtcatgg gagtgggacc tgttcactag aagagaaagg
     2761 aaacctacag ggagactttg atatttatat taaatttcct ttgttgttat cgtcatgtga
     2821 agctatgaga aaagcttggg aagcatatgc ttcaaaatgt agtgtttaga aggcagaacc
     2881 cctgttggag agcggggaaa agaatttatt tatttattta tttatctatg gctgggtatg
     2941 gtggctcacg cctgtaatcc cagcactttg ggaggccaag gcaggtggat tgtctgaact
     3001 caggagttcg agatcagcct tgccaacgtg gtaaaactcc gtctctacca aaaaatacaa
     3061 aaattagctg agcgtggtgg tgtgcacctt tactcctagc tacttggagg ctgaggtggg
     3121 aggaccactt gagcccagga ggcagaggtt gcagtgagct gagattgcac cactgcactc
     3181 cagcctggat gacagagtga gacctcatct caaatgaata gaggggtgga gaaaagagaa
     3241 atatattttt ttaccttttt tttttttttt ttttttgtga cggaatctcg ctctgtcgcc
     3301 caggctggag tgcagtggca caatctcggc tcactgcaac ctctgcctcc caggttccag
     3361 caattctcct gcctcagcct cctgagtagc tgggactaca ggcacatgcc gccacgcccg
     3421 gctaattttt gtatttttta gtagagacag ggtttcacca tattggtcag gctggtctcg
     3481 acctcctgac ctcgtgatcc acccgtctcg gcctcccaaa gtgctgggat tacaggtgtg
     3541 agtcactgca cctggccttt ttacaatttt gggtgtctat ctttggcatg tttcctgtta
     3601 tgtgagcatg acatgctgtg tatgtgagtg agcttgtagg gcgtggtggg acttaggcat
     3661 ttgcagacag tgtttagatg aaagattaca tgtaatgata aatctgaatc cctccatttt
     3721 atttgggtgg aaccatgacc aaaaatggta ggaagacgaa aggccagaaa gagactttgc
     3781 cagagagttc acggagtttt cttaccccgc atgctgacta aagaaaacat gggcttttct
     3841 gaaaccagct tcaactacag tataaactat atcagaagct tacttgataa gccttgcgga
     3901 gctgctctga ggaatagtgt gaattccttc cttgccttat tgttgactgt taatgaacat
     3961 gttttgtcat ttatctgttt aagtttttca gaaaataaaa gtaaatttct gttagcacat
     4021 tttaggatta gatttttgtg cttttggctg gcttggttca gattcttaac tagagtacca
     4081 tgtactgtct ttggaaatca aatgaggaag aagctcattc tcttactcta aaccatgttc
     4141 caaactatta ccagagtcca accagataag cagaatttgt aaccttactt ccttccatag
     4201 tccttaaact gtactgtatt ttttcacact cttgcatgat tccaaaagga tatcttcctg
     4261 acctgggttc tagtacctca gagcattgtt atcagatgct agcttattct aatgtgagga
     4321 tgtgttaggg gaactagtgt gttaagtcca attctgtaca agacatcctt tcaagttctg
     4381 tgtcattcac aacaatcctc acgggtaggt gagttttatt ttcctcactt aacagatgag
     4441 aaaaa
//
LOCUS       NM_001004341            1977 bp    mRNA    linear   PRI 16-DEC-2022
DEFINITION  Homo sapiens ETS variant transcription factor 3 like (ETV3L), mRNA.
ACCESSION   NM_001004341
VERSION     NM_001004341.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1977)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1977)
  AUTHORS   Anney RJ, Lasky-Su J, O'Dushlaine C, Kenny E, Neale BM, Mulligan A,
            Franke B, Zhou K, Chen W, Christiansen H, Arias-Vasquez A,
            Banaschewski T, Buitelaar J, Ebstein R, Miranda A, Mulas F, Oades
            RD, Roeyers H, Rothenberger A, Sergeant J, Sonuga-Barke E,
            Steinhausen H, Asherson P, Faraone SV and Gill M.
  TITLE     Conduct disorder and ADHD: evaluation of conduct problems as a
            categorical and quantitative trait in the international multicentre
            ADHD genetics study
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 147B (8), 1369-1378 (2008)
   PUBMED   18951430
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK131392.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000454449.3/ ENSP00000430271.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK131392.1, AL157713.10 and AA723297.1.
            On Jan 28, 2010 this sequence version replaced NM_001004341.1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1977
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     gene            1..1977
                     /gene="ETV3L"
                     /note="ETS variant transcription factor 3 like"
                     /db_xref="GeneID:440695"
                     /db_xref="HGNC:HGNC:33834"
     CDS             286..1371
                     /gene="ETV3L"
                     /note="ets variant gene 3-like; ets variant 3-like; ETS
                     variant 3 like"
                     /codon_start=1
                     /product="ETS translocation variant 3-like protein"
                     /protein_id="NP_001004341.1"
                     /db_xref="CCDS:CCDS30893.1"
                     /db_xref="GeneID:440695"
                     /db_xref="HGNC:HGNC:33834"
                     /translation="MHCSCLAEGIPANPGNWISGLAFPDWAYKAESSPGSRQIQLWHFI
                     LELLQKEEFRHVIAWQQGEYGEFVIKDPDEVARLWGRRKCKPQMNYDKLSRALRYYYNK
                     RILHKTKGKRFTYKFNFSKLIVVNYPLWEVRAPPSPHLLLGAPALCRPALVPVGVQSEL
                     LHSMLFAHQAMVEQLTGQQTPRGPPETSGDKKGSSSSVYRLGSAPGPCRLGLCCHLGSV
                     QGELPGVASFTPPLPPPLPSNWTCLSGPFLPPLPSEQQLPGAFKPDILLPGPRSLPGAW
                     HFPGLPLLAGLGQGAGERLWLLSLRPEGLEVKPAPMMEAKGGLDPREVFCPETRRLKTG
                     EESLTSPNLENLKAVWPLDPP"
     misc_feature    817..888
                     /gene="ETV3L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZN32.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1954..1959
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETV3L"
                     /note="hexamer: AATAAA"
     polyA_site      1977
                     /gene="ETV3L"
                     /note="major polyA site"
ORIGIN
        1 gtccgagtca gccctgggca gcggggaggt ccccagaggg ggctgggccc tgtctgggta
       61 tggggaagct tgctgcctct ggttcccttt tctccccttc actggcaacc tcttgtccct
      121 tcccttttct ctctttcttt cctgaccctc tcccttcctt ccttctttcc ctccattttt
      181 ccttcctctt tcactgtcct cccctctgcc tccttccttc ccttcctctt aagtggtgac
      241 catttcccca aggcccagac acagcccatc tcgccggagt ggaccatgca ctgcagctgc
      301 ttggctgagg gcatcccagc caaccccggc aactggatct cagggttggc cttccctgat
      361 tgggcctaca aagccgagtc gtccccaggc tcccggcaga tccagctgtg gcacttcatc
      421 ctggagctgc tgcagaagga agagttccgc catgtcatcg cctggcagca gggagagtac
      481 ggggaatttg tcatcaagga tccagatgag gtggcccgcc tctggggccg caggaaatgc
      541 aaaccacaga tgaattatga caagctgagc cgggccctca gatattacta caataagagg
      601 atcctgcata agaccaaagg caaaaggttc acatacaagt tcaacttcag caagctcatc
      661 gtagtcaact atcctttgtg ggaagtgcgg gcgccgccat ccccccactt gctgctgggg
      721 gcccctgccc tgtgtcggcc agcgctggtg cccgtgggtg tgcagagtga gctcctgcac
      781 agcatgctat ttgcccatca ggccatggtg gagcagctga caggacagca gaccccccga
      841 gggccaccag agacctctgg ggataagaag gggagcagca gcagcgtcta ccgacttggc
      901 tctgccccag gcccctgccg gctgggcctt tgctgccatt tggggagcgt ccaaggcgag
      961 ctgcctggtg ttgcctcctt cactcctccc ctcccgcccc ctctgccctc caactggacc
     1021 tgtctctcgg ggcccttctt gcctcctctc ccgtcagagc agcagctccc aggggctttt
     1081 aagccagaca tcctgctccc aggacctagg agcctcccag gggcctggca ttttccaggg
     1141 cttcctctct tggcagggct gggacagggt gcgggtgaga ggctttggct cttgtccctc
     1201 aggcccgagg ggctggaagt aaagcctgct cccatgatgg aggcaaaggg aggcctggat
     1261 cccagggagg tcttctgccc agagacccgc agactcaaaa ctggggagga aagccttact
     1321 tcccccaatc tggagaacct caaagcagtg tggcccttgg atcctcctta actagagagg
     1381 aaggtgggaa gttggggagg agtcctccaa agtccatctc tcctcttgcc caccgcctct
     1441 gggttagccc cttcccctgg ctggacatgg gctgaaattg caggatttga aggggtggag
     1501 ttggacccaa ggtggggagc attgcaggga aggtgtgaat gtggaaatgg gaaaaaccaa
     1561 gacagggtgc ccctcctctt tcaccatatt gctaagcaga ctaaggggac attcctaatc
     1621 tcaacttttc ttcagggaga cgagaataaa gtttctataa tttccatcct gcccacataa
     1681 gggggaaaat taagggtcta gcctggggag aggacagggg tggttgtgtt ccctgagtct
     1741 tgtctggggc ccatctcccc attccaggct aaggtctcca gtccctttct cacccctcca
     1801 tgcaacttct ctcccatccc tctgatttct gagaccctgg aaacccctgt cccatgcagg
     1861 cacttcctcc tctctccatt tccccaggac ccaggcaagt ggggtgggga gacactggcc
     1921 ttctctgctc tgtaatactc cactgtgacc atgaataaaa tgcccttgca aactgtc
//
LOCUS       NM_001004342            9389 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens tripartite motif containing 67 (TRIM67), transcript
            variant 1, mRNA.
ACCESSION   NM_001004342
VERSION     NM_001004342.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9389)
  AUTHORS   Huang C, Wei X, Luo Q, Xia Y, Pan T, He J, Jahangir A, Jia L, Liu W,
            Zou Y, Li L, Guo H, Geng Y and Chen Z.
  TITLE     Loss of TRIM67 Attenuates the Progress of Obesity-Induced
            Non-Alcoholic Fatty Liver Disease
  JOURNAL   Int J Mol Sci 23 (13), 7475 (2022)
   PUBMED   35806477
  REMARK    GeneRIF: Loss of TRIM67 Attenuates the Progress of Obesity-Induced
            Non-Alcoholic Fatty Liver Disease. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 9389)
  AUTHORS   Wang S, Zhang Y, Huang J, Wong CC, Zhai J, Li C, Wei G, Zhao L, Wang
            G, Wei H, Zhao Z and Yu J.
  TITLE     TRIM67 Activates p53 to Suppress Colorectal Cancer Initiation and
            Progression
  JOURNAL   Cancer Res 79 (16), 4086-4098 (2019)
   PUBMED   31239268
  REMARK    GeneRIF: TRIM67 functions as a pivotal tumor suppressor in
            colorectal cancer.Epigenetic silencing of TRIM67 correlates with
            poor survival in patients with colorectal cancer.TRIM67 stabilizes
            p53 and activates p53 signaling pathway.TRIM67 is a direct target
            gene of p53.
REFERENCE   3  (bases 1 to 9389)
  AUTHORS   Short KM and Cox TC.
  TITLE     Subclassification of the RBCC/TRIM superfamily reveals a novel motif
            necessary for microtubule binding
  JOURNAL   J Biol Chem 281 (13), 8970-8980 (2006)
   PUBMED   16434393
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR4352444.148023.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000366653.6/ ENSP00000355613.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL109810.13 and AL137801.11.
            On Oct 21, 2020 this sequence version replaced NM_001004342.4.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..9389
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.2"
     gene            1..9389
                     /gene="TRIM67"
                     /gene_synonym="TNL"
                     /note="tripartite motif containing 67"
                     /db_xref="GeneID:440730"
                     /db_xref="HGNC:HGNC:31859"
                     /db_xref="MIM:610584"
     misc_feature    733..735
                     /gene="TRIM67"
                     /gene_synonym="TNL"
                     /note="upstream in-frame stop codon"
     CDS             913..3264
                     /gene="TRIM67"
                     /gene_synonym="TNL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     TRIM9-like protein TNL; tripartite motif-containing protein
                     67"
                     /codon_start=1
                     /product="tripartite motif-containing protein 67 isoform 1"
                     /protein_id="NP_001004342.3"
                     /db_xref="CCDS:CCDS44333.1"
                     /db_xref="GeneID:440730"
                     /db_xref="HGNC:HGNC:31859"
                     /db_xref="MIM:610584"
                     /translation="MEEELKCPVCGSLFREPIILPCSHNVCLPCARTIAVQTPDGEQHL
                     PQPLLLSRGSGLQAGAAAAASLEHDAAAGPACGGAGGSAAGGLGGGAGGGGDHADKLSL
                     YSETDSGYGSYTPSLKSPNGVRVLPMVPAPPGSSAAAARGAACSSLSSSSSSITCPQCH
                     RSASLDHRGLRGFQRNRLLEAIVQRYQQGRGAVPGTSAAAAVAICQLCDRTPPEPAATL
                     CEQCDVLYCSACQLKCHPSRGPFAKHRLVQPPPPPPPPAEAASGPTGTAQGAPSGGGGC
                     KSPGGAGAGATGGSTARKFPTCPEHEMENYSMYCVSCRTPVCYLCLEEGRHAKHEVKPL
                     GAMWKQHKAQLSQALNGVSDKAKEAKEFLVQLKNILQQIQENGLDYEACLVAQCDALVD
                     ALTRQKAKLLTKVTKEREHKLKMVWDQINHCTLKLRQSTGLMEYCLEVIKENDPSGFLQ
                     ISDALIKRVQVSQEQWVKGALEPKVSAEFDLTLDSEPLLQAIHQLDFIQMKCRVPPVPL
                     LQLEKCCTRNNSVTLAWRMPPFTHSPVDGYILELDDGAGGQFREVYVGKETLCTIDGLH
                     FNSTYNARVKAFNSSGVGPYSKTVVLQTSDVAWFTFDPNSGHRDIILSNDNQTATCSSY
                     DDRVVLGTAAFSKGVHYWELHVDRYDNHPDPAFGVARASVVKDMMLGKDDKAWAMYVDN
                     NRSWFMHCNSHTNRTEGGVCKGATVGVLLDLNKHTLTFFINGQQQGPTAFSHVDGVFMP
                     ALSLNRNVQVTLHTGLEVPTNLGRPKLSGN"
     misc_feature    1651..1797
                     /gene="TRIM67"
                     /gene_synonym="TNL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZTA4.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      9357..9362
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRIM67"
                     /gene_synonym="TNL"
                     /note="hexamer: AATAAA"
     polyA_site      9389
                     /gene="TRIM67"
                     /gene_synonym="TNL"
                     /note="major polyA site"
ORIGIN
        1 acaactcctc ggcgcgccgc gcggggaggc agcggcagcg gcgggaggga ggcggggagg
       61 ggattcccga gccagccgga cgctcgccct ccgcccgccg gctgcagcgt cgcgcggccc
      121 aaggtcagag gcgccgcagg agcagcagct gggaaccagg gaagcgggtc aatcccggcc
      181 gcagggagaa agccccaggg cgcagtcagc cggcgtccac agccgcccag gagtagggtg
      241 agcggctgtc tccgggccgg tcgggtcccg ccgaggtggc cgcggcccca gcgacccggc
      301 gggtggcggc ccaggggtcg gcgagcaggc agctggagcc ccaccttcgg ctcccgggcg
      361 ctgtccgccg cctcgtggtg ctgatcccag ccccacggct gagcggcctt cgcacctgcc
      421 tgtctcacct cgctatcacc ccgataagga gttgggccgg ggcagaaggg gggcctcggg
      481 gtagccgccc accggagcca ggggctgaag cagcgagcgc acagcagccc ggccgctggt
      541 cctggggtgg agaggaggcg cgcgctgcag ccggcggcgg cgctggtgct gattcatcac
      601 ctaaagctcc tcgcaggcca ccgcgagggc agccgaccgg ctccggaatc tggccgcagg
      661 ttgaagccgc tggtgcggga ccctcgggca ggaggtgagg accccctccc ttctctcgcc
      721 cctcaatcat cttagggcgg tggctacagg acagagagag gggcgtgccc ctcggctgtg
      781 aagtgggcat gcccgtgtga tgcccccgcc cgtcgtctca ccggggcgca ccgcgctggt
      841 cctcctccgc cagtctcccg agctccggcc attcatcccc agcgcagagc agcgctggca
      901 gccggcgccg cgatggagga agagctgaag tgtcccgtgt gcggctctct gtttcgggag
      961 cctatcatcc tgccctgttc ccacaatgtc tgcctgcctt gcgctcgcac catcgcggtg
     1021 cagaccccgg acggtgagca gcacctgccc cagccgctcc tgctttcccg gggatcgggg
     1081 ctgcaggcgg gcgccgccgc cgctgcctct ctggagcacg acgctgcggc tggcccggcc
     1141 tgcggcggtg caggcgggag tgcagctggc ggcctcggcg gcggtgcggg aggtggcgga
     1201 gaccacgcgg acaagctcag cttgtacagc gagacagaca gcggctacgg gtcctacacc
     1261 ccgagcctca agtcccccaa cggggttcgc gtgctgccca tggtgcccgc accacccggc
     1321 tcctcggctg cggcggctcg gggtgccgcc tgctcctcgc tgtcctcgtc ttcgagctcc
     1381 atcacgtgcc cgcagtgcca ccgcagcgca tccctggacc accgcggcct gcgcggcttc
     1441 cagcgcaacc ggctgctcga ggccatcgtg cagcggtacc agcagggccg cggggccgtg
     1501 ccggggacgt ctgcagccgc ggcggtggcc atctgccagc tgtgcgaccg caccccgcca
     1561 gagccagcag ccacgctctg cgagcagtgc gacgtcctct actgctctgc ctgccagctc
     1621 aagtgccatc catcccgggg acccttcgcc aagcatcgcc tggtgcagcc gccgccgccg
     1681 ccgccgccgc ccgccgaggc agcctccggg cccactggca ccgcccaggg cgcccccagc
     1741 ggaggcggcg gctgcaagag cccgggaggc gcgggggcgg gggcgactgg gggcagcacg
     1801 gcccgcaagt tccccacgtg tcccgagcat gaaatggaga actacagcat gtactgcgtg
     1861 agctgtcgaa ccccggtgtg ttatctgtgc ctggaggagg gccggcacgc caagcacgag
     1921 gtgaagccgc tgggggccat gtggaagcag cacaaggcac aactatctca ggccttaaat
     1981 ggagtttcag ataaggcaaa ggaagcaaag gagtttctgg ttcagctaaa gaacatattg
     2041 cagcagatcc aggaaaacgg actggactac gaagcctgcc tcgttgctca gtgtgatgcc
     2101 cttgtggatg ctttaactcg tcagaaagcc aagctgctca ccaaggtgac taaagagagg
     2161 gaacacaagt tgaagatggt ttgggaccag atcaatcact gcacattgaa gctgcgtcag
     2221 tccaccggac tgatggagta ctgcctggag gtgatcaagg agaacgaccc ctccgggttc
     2281 ttacagatct cagatgctct gatcaagcgc gtccaggtgt ctcaggagca gtgggtcaaa
     2341 ggcgccctgg agccgaaagt gtctgcggag tttgatctga ctttggacag cgagccgctg
     2401 ctgcaggcca tccaccagct ggacttcatt cagatgaaat gtagggtgcc acccgtcccc
     2461 ctactgcagc tggagaaatg ctgcacccgt aacaacagcg tcacgctggc ctggaggatg
     2521 ccacccttca cccacagccc cgtggacggc tacatcctgg agctggacga cggtgccggg
     2581 ggacagttcc gggaagtgta cgtcggtaag gagactttgt gtaccatcga cggtcttcac
     2641 ttcaacagca cctacaacgc ccgagtcaaa gctttcaact cttctggtgt cgggccttac
     2701 agtaaaactg tcgtcctgca gacatccgat gtggcctggt tcacatttga ccccaactct
     2761 gggcatcggg acatcatttt atccaatgac aaccagacag ccacctgcag cagctatgac
     2821 gaccgggtgg tgctgggcac agctgcgttc tccaagggcg tgcactactg ggagctgcac
     2881 gtggaccggt acgacaacca cccagacccc gccttcgggg tggccagggc cagcgtggtc
     2941 aaggacatga tgctgggcaa ggatgacaag gcctgggcca tgtatgtgga caacaaccgc
     3001 agctggttca tgcactgcaa ctcccacacc aacaggacgg aaggtggcgt gtgcaagggg
     3061 gccaccgtgg gcgtgctgct ggacctgaat aagcacactc tcaccttctt catcaacggg
     3121 cagcagcagg gccccacagc cttcagccac gtggacgggg tcttcatgcc agccctcagc
     3181 ctcaaccgca acgtgcaggt caccctgcac acaggattgg aagtgccgac taacctgggg
     3241 cggccaaagc tgtcaggcaa ttagccccgc tccagctcgg cactgtgcct gtgacagtga
     3301 cattcacagg caaaacgccc accattctca ctaagctcaa ataacccaca aaagcaggat
     3361 atgcaaatca tgggtgcaac ctggcagcgt ggagtgtcat agaaacacat tttcttgggg
     3421 acgcagggaa tgggtccacg ggccatgctc acagctgcca ctgtcagtgg caaaggaagg
     3481 tacgtgtgtc acccttattc cacccagaca ttacgaacac tccccaagaa ggacctttct
     3541 caagggagtc agcattcggg cttcatgtct atgtttcctg ccatctgttt tcaaagcttg
     3601 tctttttttg gagggagagg aaggtagact ttgagactgg cctcctgaga gcggcagtca
     3661 ggagctgcgc tgtaatccca cgccccgggt gttggccctc cgtggggacc ttgcctcctc
     3721 agagtcccga gattgcagat tctcatcatg ctgagaaagt tatcttttag cttcttggtc
     3781 ctagagtctt tagtagcacc tgccacttgc agacccaatg caggattgat agaaagggac
     3841 attaatcatt catgcttgac ttttgcctct ctcactgaag tgttagaacc ttttaaaatg
     3901 gcttccttta ttaatcagcc aattgtgttc tctctctctc ttcctccatc cttcatttct
     3961 tctccctccc tccttctctt tctctcttct tctctctctc cttccttccc tcctttgctc
     4021 tctctttctt cctttcctcc ttctctctta ctttcctcca tccctgcctc tttcttccct
     4081 ctttcgctct ctttccctcc ctccttctct ctctctctca cacacacaca ggcatgacag
     4141 tctcctaaaa ttaattcact cagttcttag ttcttaaatc cacgtgaaaa cacaagaatt
     4201 ttaacaacta tgtcataggt cttcgcctgg tgatggctcc tttctgaaac tggcagccca
     4261 agaagttaac tgaaaatgca tccagattgc tcttctgagc tgaaccactc tcagactcat
     4321 aagcatttaa aatgggagac cctgggaaag cctgttctag tcagtccacc ctattgtcat
     4381 tatgaaagca tcatgaacac aagtggcccc tgtggcaggc cgggacggct ctgccctgat
     4441 gcagtgggcg ggatctctgg ggaaggcagg aaatagaagg gcagtatcag gtaccttgtc
     4501 tcccagcttc ccactgtgag actgggtgtg ccgagtctga cctgccaggg caggactctg
     4561 gaaacaccag gcttctccct tgagatccac attgattcat ccacacctct cagagacagc
     4621 tcatggcagg ggttttgagc ctgccaggct cttgttccca gggaaccctt cctctcctcc
     4681 ctcctctcat cttcccagtc acctgccacc tccagctcca cctggtagta acatttctct
     4741 ctccttttaa aaagaatata ttttgtcaag cattttattt ctgaggctga gaagtgactt
     4801 gtcaatttgc tggactggat ttttataaaa ttcgcccatt caccagcacc aactgtgcgt
     4861 ccttggttct gccttcctgt tcagacaccg cgcctgcttt ctgagtaact gcctgccgga
     4921 gccatgcagg taccccccct ccactcagca ggcccgacaa tcctacctca aagctcatgc
     4981 tcttggtctg caaggctgct tggtccgctg tctctgcaga tgtggccggc aaggccagct
     5041 gccccgtctc caggagctgc tcggtgctgt gttgcagtct ctgctgcgga gcctgggagc
     5101 tatctgcttc atggaagtct aggtcttgcc tcttccttgt catctcacca agcggtttct
     5161 gggtctcctc ctcccatccc agagccctgt ccagagctct tggtggtgac acacaagacc
     5221 tgggaccctg tgtccttgcc cgcacctctg cctctgtctc ccatatccct gcagcttcat
     5281 ccttagccat agctctgggt ggcctttgct tggagcatgg agacgatccc taaagattga
     5341 ggatgaagag gagccaccac tttcctgggg ccaaggaagc catcagcttt gggaagtgtc
     5401 tagctctctt ctgaaaaaaa aacaggccta caccctgccc ccagaatgag agtgggctag
     5461 gcagggctgc ctggtgacag cagcttctca caggggagcc ctggggaagg ctgtggagcc
     5521 tccaccatca ccacagccca ggtcaccagg tggccccagc tctgcagaag aatcgcccat
     5581 cattggagca caagttgcct ggggctaccc tgaacctaac ccctttgagg gagcagcatc
     5641 caggtcagga gagaagtgga aagtgcagga gggtaatgcc ctcaaatccg gtggcctctt
     5701 tcagaaaaaa gttccctgaa gtccagagag gtgcagccag gactccctcc tccccactgc
     5761 caccctgagc ttgggggctg ggattctccc ttttctgact cctccaggag cccagaagca
     5821 atacggccga tgccagggac agcatccagc tctccttcac agacacctct cctgtcttca
     5881 gcacaaaaca ccttcaatgt tctgacttca aagagaacga caggtccgtg ccacacactt
     5941 gtgtttttga gggatcagaa aagtgaagaa ggaacttatc aattcctcat ggccaggaag
     6001 gtcccgggtt tcagagtaga aatgacagac aggtcatgga attctcatcc accatcgaat
     6061 tccataacac gttacatcat ggtggcacat ttgtacatac atataaatga tatcaagatg
     6121 aggcttttgt tgggctggct gaggagtaac ttggtgtaaa tctatcaagc agtttcagtg
     6181 aaaaaggaat tcaaagtagt ttaaaaatgt cgagttccat tgcattgtaa atagtgcctc
     6241 tgtaatgtgg ttctgcagtt gttctttgct agtgagcaag cttggtcaaa gtgtatgcct
     6301 tttcctttta aaattaatct cttccgaaaa tatccactag cacctcactg catacatagc
     6361 atcccagctc ctaattcaaa gcaggggaag gtatttcccc aaagcctgct tttcctctct
     6421 ctgttctcct tgggaaaata atgattccaa ttaaagagga caccagtaat actgacccac
     6481 aaggtaactg acctaaacac tataaaactg tatatatttc caggctgcat cttcagcctg
     6541 atatgtactt tgtagttgca acagcgccct aggtgcccta tggcccacca agtttgagga
     6601 gggtggtgct ttccggattg agcctgggca ggctctgtgg agctcaccaa gagagctggg
     6661 ggcaggccca ccctcctctt tgcgcccttt ctctccctct tggtgcccct gccctccgcc
     6721 ccaccacagc actctcagga aaggatcaga atgcaggatc tttgtgtatt tcttccaggg
     6781 atatttgcat ttaagcctta attctcattg caagcgaaag gcttggtccc cctgggaagg
     6841 cgggtttcgg caccggtggg caggtggttc agtgtcaagg aggctgctgc tggtcccatg
     6901 gccacctgct ggctttgagg tagtgaggga gggtcaatcc ttagggggag tcaacatgtg
     6961 aatgctaaag aacactgctg cacagcccgt ggggtggcgc cagggtttct caacctctac
     7021 tgacattttg cgataggttc tgtatgccgt aggatgttta gcaacatccc tggtctctac
     7081 ccatcatctg ccagtagcaa cccccaagtt aggtgtgaca accaaaagta tctgtcgaca
     7141 ttgctaggta tctcctgggg gcctccacaa gttgagaacc accaggttat gccagtggtt
     7201 tgtcatgcat ggatctgtag agggactgtg gcgctccggc tgctttgttc catagaaagc
     7261 ctgtatgtga caaagctgcc agcctttatc ttgataccca agcccaggat tttccatgtg
     7321 tcttcagggg gcaggtaggg gaaaatgggg tgagccacct ccaacagatg ccaacctgtt
     7381 gggtcttgaa ttttcactca ctgaagatgc cccctgcccg ctccccactt cctagaaagc
     7441 aaaactcgtt acctttgttt tccttggcca cattttactg gaagcaacag gaacttctta
     7501 atgggtttgt ggccctcaat tggtttttaa aaaaatctaa cagatcttat tggcaaatat
     7561 tcaagatggt gatgctggaa aatttcagga cttttctttt gcaagtgagc cggtagctgt
     7621 gtttgttgac cacattcttt ggcagttcct cccagaagat caaaggatcc tgcagcttta
     7681 acctaatatc taggctgtaa aaatatgagg gcaggtttcg ggcaggatgt attgatcaga
     7741 caccaagttc agccctcggt tacttccctc ttttaacctg gctttaatag tgattcatgg
     7801 tatgagtggg ggccaatctc ttatcctttc tgtgcctcag tatccccacc tgaaatgaga
     7861 ctagtcatac taacctacct cctctgatgt attgtgagga ttatacaata acatttttaa
     7921 agaaaaaaag tgcagtcttt catctctggc atctaagcta atgattccca ttcagtgact
     7981 caaacctgtg gggggcgttc cagtgttctc tgaccagtgt cttccatcca agcctccttg
     8041 tgaccagggc aaggagctgc ctggcctcca gtgggtaaaa tagaccttta agacaggttt
     8101 cctatgacca tagaaagtaa caccccatat gtttccattc ccggcgaggc ctgtttgaat
     8161 ggcgctctgt gtgagtgcta tgaacaggct acctgtcagc agtctcactg cgaggcctca
     8221 aggcctctgt gagcagaagc ccctttaaac caaggaagga cactaaccca ggcctctgcc
     8281 ttctttgtta cctaagttct ggtatctaag gggtctctca tctcacagct tgcctccttt
     8341 gtttcgaggg gtctctgcag tgtgaatggg tttgaaatcc agtgtggata gcacgaagag
     8401 atgcaactga gccgaagttt tgaaggctgg ttgggctagt gggtcatcat gtcactttca
     8461 gatgactgat aaccgctggg actgctgggg cttcaccagc acgagctatg caggttgggg
     8521 gaggccctgg ctttttcaat gattgacgtt gacatcagtc aggagctggg agttgagacc
     8581 tccagggaag tctcgtccgg atccatcgct cttctctcaa ggagcacagt cctgggaaag
     8641 gcctagggac ctgtgggccg gtgatgcggg cactgcagac caggccaggc cctcgggtaa
     8701 agctctgagg agaggccaaa accaggcttc aggttcggga aggtgactgc ttgcaactgc
     8761 agtagcagga acatgtcagg tgcttactgg gtgagaccca gccggggaag cctctccaac
     8821 tcctcctagc cctggaaacc agacacccag agccccaggc tttctcggca cccagaagaa
     8881 gtggggagcg ggcaaagcag aaaacattca atgcatgatg taggattgct gcgttggcac
     8941 taagctgttg tattaagcat gagaggtgtt tgtttaacgt tggcaaaggg atttaacaag
     9001 aaacaaaaag cttcgcgtcc ttgttttgac cgtcgacaga agtccaattt tcttgccttt
     9061 ctttatcccc atttctcctc cctccccttc ccccatcaca tccactttcg gtcactcgtt
     9121 gttggtattt ggtggcagct cttggtccta ttgctgtgga tgttccactg aaaacacggg
     9181 gggtagcggg gagtggtaag gaaagcaact tttttctaat ttttgtattg gtatccacaa
     9241 gcgtttgtat tttttgaatt gcaaacactg tgttttctgg tctttggggg ttagttgaac
     9301 tttctgtatt accttttgga aaacctgagt tttaccacag tcttaagcag atttgaaata
     9361 aattcttttg acactgccaa caacagaaa
//
LOCUS       NM_001004343            1207 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens microtubule associated protein 1 light chain 3 gamma
            (MAP1LC3C), mRNA.
ACCESSION   NM_001004343
VERSION     NM_001004343.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1207)
  AUTHORS   Kliche J, Garvanska DH, Simonetti L, Badgujar D, Dobritzsch D,
            Nilsson J, Davey NE and Ivarsson Y.
  TITLE     Large-scale phosphomimetic screening identifies phospho-modulated
            motif-based protein interactions
  JOURNAL   Mol Syst Biol 19 (7), e11164 (2023)
   PUBMED   37219487
REFERENCE   2  (bases 1 to 1207)
  AUTHORS   Judith D, Versapuech M, Bejjani F, Palaric M, Verlhac P, Kuster A,
            Lepont L, Gallois-Montbrun S, Janvier K and Berlioz-Torrent C.
  TITLE     ATG5 selectively engages virus-tethered BST2/tetherin in an
            LC3C-associated pathway
  JOURNAL   Proc Natl Acad Sci U S A 120 (20), e2217451120 (2023)
   PUBMED   37155854
  REMARK    GeneRIF: ATG5 selectively engages virus-tethered BST2/tetherin in an
            LC3C-associated pathway.
REFERENCE   3  (bases 1 to 1207)
  AUTHORS   Verma R, Aggarwal P, Bischoff ME, Reigle J, Secic D, Wetzel C,
            VandenHeuvel K, Biesiada J, Ehmer B, Landero Figueroa JA, Plas DR,
            Medvedovic M, Meller J and Czyzyk-Krzeska MF.
  TITLE     Microtubule-associated protein MAP1LC3C regulates lysosomal
            exocytosis and induces zinc reprogramming in renal cancer cells
  JOURNAL   J Biol Chem 299 (5), 104663 (2023)
   PUBMED   37003503
  REMARK    GeneRIF: Microtubule-associated protein MAP1LC3C regulates lysosomal
            exocytosis and induces zinc reprogramming in renal cancer cells.
REFERENCE   4  (bases 1 to 1207)
  AUTHORS   Qi L, Sun B, Yang B and Lu S.
  TITLE     PGM5P3-AS1 regulates MAP1LC3C to promote cell ferroptosis and thus
            inhibiting the malignant progression of triple-negative breast
            cancer
  JOURNAL   Breast Cancer Res Treat 193 (2), 305-318 (2022)
   PUBMED   35325342
  REMARK    GeneRIF: PGM5P3-AS1 regulates MAP1LC3C to promote cell ferroptosis
            and thus inhibiting the malignant progression of triple-negative
            breast cancer.
REFERENCE   5  (bases 1 to 1207)
  AUTHORS   Kruse T, Benz C, Garvanska DH, Lindqvist R, Mihalic F, Coscia F,
            Inturi R, Sayadi A, Simonetti L, Nilsson E, Ali M, Kliche J, Moliner
            Morro A, Mund A, Andersson E, McInerney G, Mann M, Jemth P, Davey
            NE, Overby AK, Nilsson J and Ivarsson Y.
  TITLE     Large scale discovery of coronavirus-host factor protein interaction
            motifs reveals SARS-CoV-2 specific mechanisms and vulnerabilities
  JOURNAL   Nat Commun 12 (1), 6761 (2021)
   PUBMED   34799561
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1207)
  AUTHORS   Popovic D, Akutsu M, Novak I, Harper JW, Behrends C and Dikic I.
  TITLE     Rab GTPase-activating proteins in autophagy: regulation of endocytic
            and autophagy pathways by direct binding to human ATG8 modifiers
  JOURNAL   Mol Cell Biol 32 (9), 1733-1744 (2012)
   PUBMED   22354992
REFERENCE   7  (bases 1 to 1207)
  AUTHORS   Behrends C, Sowa ME, Gygi SP and Harper JW.
  TITLE     Network organization of the human autophagy system
  JOURNAL   Nature 466 (7302), 68-76 (2010)
   PUBMED   20562859
REFERENCE   8  (bases 1 to 1207)
  AUTHORS   Kirkin V, Lamark T, Sou YS, Bjorkoy G, Nunn JL, Bruun JA, Shvets E,
            McEwan DG, Clausen TH, Wild P, Bilusic I, Theurillat JP, Overvatn A,
            Ishii T, Elazar Z, Komatsu M, Dikic I and Johansen T.
  TITLE     A role for NBR1 in autophagosomal degradation of ubiquitinated
            substrates
  JOURNAL   Mol Cell 33 (4), 505-516 (2009)
   PUBMED   19250911
REFERENCE   9  (bases 1 to 1207)
  AUTHORS   Tanida I, Sou YS, Ezaki J, Minematsu-Ikeguchi N, Ueno T and Kominami
            E.
  TITLE     HsAtg4B/HsApg4B/autophagin-1 cleaves the carboxyl termini of three
            human Atg8 homologues and delipidates microtubule-associated protein
            light chain 3- and GABAA receptor-associated protein-phospholipid
            conjugates
  JOURNAL   J Biol Chem 279 (35), 36268-36276 (2004)
   PUBMED   15187094
REFERENCE   10  (bases 1 to 1207)
  AUTHORS   He H, Dang Y, Dai F, Guo Z, Wu J, She X, Pei Y, Chen Y, Ling W, Wu
            C, Zhao S, Liu JO and Yu L.
  TITLE     Post-translational modifications of three members of the human
            MAP1LC3 family and detection of a novel type of modification for
            MAP1LC3B
  JOURNAL   J Biol Chem 278 (31), 29278-29287 (2003)
   PUBMED   12740394
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF276659.1, BC132988.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000357246.4/ ENSP00000349785.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX571673.8, CN260933.1, BC127722.1 and AF276659.1.
            On May 17, 2019 this sequence version replaced NM_001004343.2.
            Summary: Autophagy is a highly regulated bulk degradation process
            that plays an important role in cellular maintenance and
            development. MAP1LC3C is an ortholog of the yeast autophagosome
            protein Atg8 (He et al., 2003 [PubMed 12740394]).[supplied by OMIM,
            Nov 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1207
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q43"
     gene            1..1207
                     /gene="MAP1LC3C"
                     /gene_synonym="ATG8J; LC3C"
                     /note="microtubule associated protein 1 light chain 3
                     gamma"
                     /db_xref="GeneID:440738"
                     /db_xref="HGNC:HGNC:13353"
                     /db_xref="MIM:609605"
     misc_feature    28..30
                     /gene="MAP1LC3C"
                     /gene_synonym="ATG8J; LC3C"
                     /note="upstream in-frame stop codon"
     CDS             91..534
                     /gene="MAP1LC3C"
                     /gene_synonym="ATG8J; LC3C"
                     /note="MAP1 light chain 3-like protein 2; LC3-like protein
                     2; MAP1A/MAP1B LC3 C; MAP1A/MAP1B light chain 3 C;
                     autophagy-related protein LC3 C; MAP1 light chain 3-like
                     protein 3; autophagy-related ubiquitin-like modifier LC3 C"
                     /codon_start=1
                     /product="microtubule-associated proteins 1A/1B light chain
                     3C"
                     /protein_id="NP_001004343.1"
                     /db_xref="CCDS:CCDS31074.1"
                     /db_xref="GeneID:440738"
                     /db_xref="HGNC:HGNC:13353"
                     /db_xref="MIM:609605"
                     /translation="MPPPQKIPSVRPFKQRKSLAIRQEEVAGIRAKFPNKIPVVVERYP
                     RETFLPPLDKTKFLVPQELTMTQFLSIIRSRMVLRATEAFYLLVNNKSLVSMSATMAEI
                     YRDYKDEDGFVYMTYASQETFGCLESAAPRDGSSLEDRPCNPL"
     misc_feature    367..369
                     /gene="MAP1LC3C"
                     /gene_synonym="ATG8J; LC3C"
                     /note="Phosphoserine, by TBK1.
                     /evidence=ECO:0000269|PubMed:31709703; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW4.1); phosphorylation site"
     misc_feature    376..378
                     /gene="MAP1LC3C"
                     /gene_synonym="ATG8J; LC3C"
                     /note="Phosphoserine, by TBK1.
                     /evidence=ECO:0000269|PubMed:31709703; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW4.1); phosphorylation site"
     misc_feature    466..471
                     /gene="MAP1LC3C"
                     /gene_synonym="ATG8J; LC3C"
                     /note="Cleavage, by ATG4B.
                     /evidence=ECO:0000305|PubMed:15187094; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW4.1); cleavage site"
ORIGIN
        1 agtttggaag cagctggagg aatgagttag gttcccggtt gcgggacagt ttttttttct
       61 tttttaaaac agacacagct actgagtgca atgccgcctc cacagaaaat cccaagcgtc
      121 agacccttca agcagaggaa aagcttggca atcagacaag aggaagttgc tggaatccgg
      181 gcaaagttcc ccaacaaaat cccggtggta gtggagcgct accccaggga gacgttcctg
      241 cccccgctgg acaaaaccaa gttcctggtc ccgcaggagc tgaccatgac ccagttcctc
      301 agcatcatcc ggagccgcat ggtcctgaga gccacggaag ccttttactt gctggtgaac
      361 aacaagagcc tggtcagcat gagcgcaacc atggcagaga tctacagaga ctacaaggat
      421 gaggatggct tcgtgtacat gacctacgcc tcccaggaga catttggctg cctggagtca
      481 gcagccccca gggatgggag cagccttgag gacagaccct gcaatcctct ctagcccatg
      541 tcgggaagga tgtgtgctct gacagacgtg tcagatgctg gcagaaggga ttggttttct
      601 cctgtgtata cagtggagga gtctgagaag cagggatgcc tggggtgatc agctccaacc
      661 agtggcagca gagtggtggc tcttcctagt ttagtttttg tgctccgtgt tcttgtgtcc
      721 ttctaagaaa aatgtgggct gctcttgaaa gttatataat tatcattttt ttttttttga
      781 aacagggtct tgctctattg cctaggctgg agcacagtgg catgatcttg gctcactgca
      841 acctccgcct cctgggttca agtgattctt ctgcctccac cccccgagtg gctggtatta
      901 caagcacatg ccaccacacc aggctaattt ttgtattttt agtagagacg gggtttcacc
      961 atgttggcca ggctggtctc gaactcctga cctcaggtga tccacccacc tcggcctccc
     1021 aaagtgctgg gattacaggc gtgagccact gcatccagcc atataaccgt attctaaata
     1081 agaaatggtt ggcttgtgtg atggttttgt gtaatgagct agagataata ttttaagtgt
     1141 cttctgtggt atatgtggga gggccattaa ggagtgggtt tcactccctg catgtgggca
     1201 ggtgtcc
//
LOCUS       NM_001004351            3185 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens speedy/RINGO cell cycle regulator family member E3
            (SPDYE3), mRNA.
ACCESSION   NM_001004351
VERSION     NM_001004351.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3185)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC056606.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000332397.6/ ENSP00000329565.6
            RefSeq Select criteria      :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC056606.1 and BC100972.2.
            On Jun 2, 2019 this sequence version replaced NM_001004351.4.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3185
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..3185
                     /gene="SPDYE3"
                     /gene_synonym="SPDYB2"
                     /note="speedy/RINGO cell cycle regulator family member E3"
                     /db_xref="GeneID:441272"
                     /db_xref="HGNC:HGNC:35462"
                     /db_xref="MIM:617625"
     misc_feature    89..91
                     /gene="SPDYE3"
                     /gene_synonym="SPDYB2"
                     /note="upstream in-frame stop codon"
     CDS             185..1834
                     /gene="SPDYE3"
                     /gene_synonym="SPDYB2"
                     /note="putative Speedy protein E3; Putative WBSCR19-like
                     protein 7; speedy homolog E3"
                     /codon_start=1
                     /product="speedy protein E3"
                     /protein_id="NP_001004351.3"
                     /db_xref="CCDS:CCDS47658.2"
                     /db_xref="GeneID:441272"
                     /db_xref="HGNC:HGNC:35462"
                     /db_xref="MIM:617625"
                     /translation="MTSHQPQPQEEQSPQRSTSGYPLQEVVDDEVSGPSAPGVDPSPPR
                     RSLGCKRKRECLDESDDEPEKELAPEPEETWVAETLCGLKMKAKRRRVSLVLPEYYEAF
                     NRLLAPGVDPSPPRRSLGCKRKRECLDESDDEPEKELAPEPEETWVAETLCGLKMKAKR
                     RRVSLVLPEYYEAFNRLLAPGVDPSPPRRSLGCKRKRECLDESDDEPEKELAPEPEETW
                     VAETLCGLKMKAKRRRVSLVLPEYYEAFNRLLAPGVDPSPPRRSLGCKRKRECLDESDD
                     EPEKELAPEPEETWVAETLCGLKMKAKRRRVSLVLPEYYEAFNRLLAPGVDPSPPRRSL
                     GCKRKRECLDESDDEPEKELAPEPEETWVAETLCGLKMKAKRRRVSLVLPEYYEAFNRL
                     LEDPVIKRFLAWDKDLRVSDKYLLAMVIAYFSRAGLPSWQYQRIHFFLALYLANDMEED
                     DEAPKQKIFYFLYGKTHSHIPLRPKHWFQLCRPMNPRARKNCSQIALFQKRRFQFFCSM
                     RCRAWVSPEELEEIQAYDPEHWVWARDRAHLS"
     misc_feature    185..406
                     /gene="SPDYE3"
                     /gene_synonym="SPDYB2"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKU9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    560..619
                     /gene="SPDYE3"
                     /gene_synonym="SPDYB2"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKU9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    746..838
                     /gene="SPDYE3"
                     /gene_synonym="SPDYB2"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKU9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    965..1057
                     /gene="SPDYE3"
                     /gene_synonym="SPDYB2"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKU9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1184..1276
                     /gene="SPDYE3"
                     /gene_synonym="SPDYB2"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKU9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 ctctgtcggc gcctggcagt tcaggtgaac aacagtaact tctcagagct gttctccact
       61 cctgacttct cccagcctcg agaattgata acacactctt ctggatccca gcagtgtcca
      121 gaagaagacc aaggacagaa cagagactag cttcggtgag attggacaga ttttgggaaa
      181 gatcatgacg agccatcaac cgcagcccca ggaagagcag agcccccagc ggagcacctc
      241 agggtacccc ctccaggagg tggtggatga tgaagtgtcg ggaccatcag cccctggggt
      301 agatcccagc cccccacgta ggtcccttgg ctgcaaaagg aagagggagt gtttggatga
      361 atctgatgat gagccagaga aggagctcgc ccctgagcct gaggagacct gggtggcgga
      421 gacgctgtgt ggcctcaaga tgaaggcgaa gcgacggcga gtgtcgctcg tgctccctga
      481 gtactacgag gccttcaaca ggctgcttgc ccctggggta gatcccagcc ccccacgtag
      541 gtcccttggc tgcaaaagga agagggagtg tttggatgaa tctgatgatg agccagagaa
      601 ggagctcgcc cctgagcctg aggagacctg ggtggcggag acgctgtgtg gcctcaagat
      661 gaaggcgaag cgacggcgag tgtcgctcgt gctccctgag tactacgagg ccttcaacag
      721 gctgcttgcc cctggggtag atcccagccc cccacgtagg tcccttggct gcaaaaggaa
      781 gagggagtgt ttggatgaat ctgatgatga gccagagaag gagctcgccc ctgagcctga
      841 ggagacctgg gtggcagaga cgctgtgtgg cctcaagatg aaggcgaagc gacggcgagt
      901 gtcgctcgtg ctccctgagt actacgaggc cttcaacagg ctgcttgccc ctggggtaga
      961 tcccagcccc ccacgtaggt cccttggctg caaaaggaag agggagtgtt tggatgaatc
     1021 tgatgatgag ccagagaagg agctcgcccc tgagcctgag gagacctggg tggcggagac
     1081 gctgtgtggc ctcaagatga aggcgaagcg acggcgagtg tcgctcgtgc tccctgagta
     1141 ctacgaggcc ttcaacaggc tgcttgcccc tggggtagat cccagccccc cgcgtaggtc
     1201 ccttggctgc aaaaggaaga gggagtgttt ggatgaatct gatgatgagc cagagaagga
     1261 gctcgcccct gagcctgagg agacctgggt ggcggagacg ctgtgtggcc tcaagatgaa
     1321 ggcgaagcga cggcgagtgt cgctcgtgct ccctgagtac tacgaggcct tcaacaggct
     1381 gcttgaggat cctgtcatta aaagattcct ggcctgggac aaagatctga gggtgtcaga
     1441 caagtatctc ctggctatgg tcatagcgta tttcagccgg gccggcctcc cctcctggca
     1501 ataccaacgc attcatttct tcctggctct ctatctggcc aatgacatgg aggaggacga
     1561 cgaggccccc aaacaaaaga tcttctactt cctgtacggg aagacccact ctcacatacc
     1621 cttgcgccct aagcattggt tccagttatg ccgtcccatg aacccgaggg ccaggaagaa
     1681 ctgctctcag atagccttgt tccagaagcg tcggttccag ttcttctgtt ccatgcgctg
     1741 cagggcttgg gtttccccgg aggagttgga ggagatccag gcttatgacc cagagcactg
     1801 ggtgtgggcg cgagatcgcg cccacctttc ctagagctcc agggaccgtg gaggcctgag
     1861 gtcatcggcc tgagagaaga acaccggacc caggggagat gtggattttc agcaggaact
     1921 ttattccagt gctaatggca gacatcagga aggaggagag gagccatttg tgcagatcat
     1981 ctagaagaac ctggaccatt cttgacagag ctgaatacag tgatcacgtt gtcctccaag
     2041 gagcaggggt ggggtggggt acttctagga gtccttggag aaaagtaaga aaccaggagt
     2101 gtttccagtt ccaccctttc ctgcggcacc acctcccttt ttatattgct gaatgccaac
     2161 ctccctgggg cggaacctgg aggtcctgtt tcttacggac ttggttgcca cagtccagga
     2221 gcatttgaag gcacagtgca ggggctcaga ttggcacaga attctttgtg aaatatgagt
     2281 gccacagact gtaacagata gcttcatgca cactatgcat tttattggtt tgtttggaaa
     2341 atgttggcca ttgaatcatt aataggttta tttcaaatag tttggaaatt gttgtacttt
     2401 tgaaaacatg ctgttcctgt agagtttttt gatgagagtt atagttgtta tatatacata
     2461 aagataattt tcttttcatt tttaagtgag aattcttttt atcctaaatc ttttattatc
     2521 tttaaatttt tctctgtatt attatatgtg ctcctgaagc gagcactctt tttatctatg
     2581 atacttccat aataatctct tctatttata gctattggta gttcccccaa attctggtca
     2641 tagaaatttt tatttgctgt ttaggtttgt gactgaattg tgagaattca gttgtgattt
     2701 ttaacatgtc ttagatatat atactaacat gtctaatata tactatctat tttattgatt
     2761 tatttcgaaa aagatgggca aagaattatt taaatattat tttatttatt taaatattta
     2821 ttaaatatat ttatttattt aaatatttat taaatatatt tatttattta aatgttatta
     2881 ctttaaatat tattttaaat attttggaaa tactggtatt tttgaataga tgctgtttct
     2941 ataaagctgt gtgatgggta ttataactgt tatatacaca taaatataat tttgttttcc
     3001 tttttaagag aggattcttt ttatcctaaa tcttttacct ttcaatcttt gtatctatta
     3061 ctacatatgc tgctgaaggg agcagacttt ttatctatga tacttagtta atgtatatat
     3121 tacatttata gctatgtggt agttccccta aattcttgta aaaataaatt tttatttgat
     3181 attta
//
LOCUS       NM_001004353            1166 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens sperm-tail PG-rich repeat containing 3 (STPG3),
            transcript variant 3, mRNA.
ACCESSION   NM_001004353
VERSION     NM_001004353.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1166)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (bases 1 to 1166)
  AUTHORS   Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R,
            Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine
            M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J,
            Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K,
            Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T,
            Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi
            T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato
            K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H,
            Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S,
            Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta
            T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO,
            Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N,
            Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y,
            Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H,
            Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A,
            Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T,
            Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai
            A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H,
            Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M,
            Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y,
            Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K,
            Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M,
            Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano
            J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T,
            Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T,
            Nakamura Y, Ohara O, Isogai T and Sugano S.
  TITLE     Complete sequencing and characterization of 21,243 full-length human
            cDNAs
  JOURNAL   Nat Genet 36 (1), 40-45 (2004)
   PUBMED   14702039
REFERENCE   3  (bases 1 to 1166)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz
            TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha
            SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA,
            McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley
            KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM,
            Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan
            A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko
            Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC,
            Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS,
            Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones
            SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC144308.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000412566.6/ ENSP00000391218.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX255925.17.
            On Apr 21, 2021 this sequence version replaced NM_001004353.3.
            Transcript Variant: This variant (3) uses an alternate splice site
            in the 3' coding region, which results in a frameshift, compared to
            variant 1. It encodes isoform c, which has a shorter and distinct
            C-terminus, compared to isoform a.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1166
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..1166
                     /gene="STPG3"
                     /gene_synonym="C9orf173"
                     /note="sperm-tail PG-rich repeat containing 3"
                     /db_xref="GeneID:441476"
                     /db_xref="HGNC:HGNC:37285"
     CDS             2..928
                     /gene="STPG3"
                     /gene_synonym="C9orf173"
                     /note="isoform c is encoded by transcript variant 3;
                     sperm-tail PG-rich repeat-containing protein 3; protein
                     STPG3"
                     /codon_start=1
                     /product="protein STPG3 isoform c"
                     /protein_id="NP_001004353.2"
                     /db_xref="CCDS:CCDS48065.1"
                     /db_xref="GeneID:441476"
                     /db_xref="HGNC:HGNC:37285"
                     /translation="MMNSDQKAVKFLANFYINGGKHWTHGHLRQTQPEPTQPKASVLLL
                     GPEPGMAWDETQPPKMKEIPVGLRLQTGTPQESLPTYTQTLRELLLEQRPLITADLEVP
                     SPTRYQVPSPSVRESSPHPHYSIGCKHQGREGGGRRAWQTLWFQSESPFTQKADFDQEQ
                     KWPSPAHYQLLSRPAFPAFSFRGCHSASKTPEGHTHLGLPGARGLGLRVQPQSLLQASL
                     QAPGKRCPGPNTYNILPGSRLQSPRSPAFSMSRSPAFTSWLSTSRTPGPAAYHVEDCNS
                     RFPSAPGVVIQGVRRPKRHDTGPFCTL"
     misc_feature    314..409
                     /gene="STPG3"
                     /gene_synonym="C9orf173"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7X2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     polyA_site      1166
                     /gene="STPG3"
                     /gene_synonym="C9orf173"
                     /note="major polyA site"
ORIGIN
        1 gatgatgaat tctgaccaga aggcagtgaa attcctggca aatttttaca tcaatggagg
       61 caaacactgg acccatggtc acctgaggca gacacaacca gagcccaccc agcccaaggc
      121 atctgtgctg ttgttgggcc cggagccggg gatggcctgg gatgagacac agcccccaaa
      181 gatgaaggag atcccagttg gcctcaggtt acagacgggc accccccagg agtccctgcc
      241 cacctacacc cagaccctga gggaactatt gctggagcaa cgccccctga tcacagctga
      301 cctggaagtc cccagcccca ccaggtacca ggtgccgagc ccgtccgtac gagagtcctc
      361 cccacacccc cactacagca tcggctgcaa gcaccagggc cgagagggcg gtggccgcag
      421 ggcatggcag actttgtggt tccagagcga aagccccttc acgcagaaag ctgacttcga
      481 ccaagagcaa aagtggccct cgccagccca ctaccagctg ctcagccggc ccgccttccc
      541 cgccttcagc ttcagaggct gccactccgc ttccaagaca cctgaaggcc acacccacct
      601 agggctgcct ggggctaggg ggctgggcct cagggtgcag ccccagtccc tgcttcaggc
      661 ctctttgcag gcacctggca agagatgccc tggccccaac acctacaata tccttcctgg
      721 gagccgcctg cagagccccc gctcgccggc cttctcgatg agccgctccc ctgcgttcac
      781 ctcctggctc agcacctccc gaacccctgg cccagccgcc taccacgtgg aggactgcaa
      841 ctcacgcttc ccttcggcgc ctggcgtggt catccagggt gtacgcagac ccaagcgcca
      901 cgacacaggc cccttctgca cgctctagag ccagctgggc acaacctgct tggcccggcc
      961 accgagtgga accatggcct cccccggggc tttcccaggc ctcccctggg acttggggcc
     1021 ccagcctggc cttctgaccc tctgggcacc ccgatgcacc cttctggctg gccaaccctt
     1081 ctatgggctg tggacaaggc tggcccagcc tggatccccc atctgcccat ctccccgcta
     1141 cactgagatg ctgttggttt tcccga
//
LOCUS       NM_001004354            2641 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens NOTCH regulated ankyrin repeat protein (NRARP), mRNA.
ACCESSION   NM_001004354
VERSION     NM_001004354.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2641)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2641)
  AUTHORS   Pinto I, Duque M, Goncalves J, Akkapeddi P, Oliveira ML, Cabrita R,
            Yunes JA, Durum SK, Barata JT and Fragoso R.
  TITLE     NRARP displays either pro- or anti-tumoral roles in T-cell acute
            lymphoblastic leukemia depending on Notch and Wnt signaling
  JOURNAL   Oncogene 39 (5), 975-986 (2020)
   PUBMED   31586130
  REMARK    GeneRIF: NRARP displays either pro- or anti-tumoral roles in T-cell
            acute lymphoblastic leukemia depending on Notch and Wnt signaling.
REFERENCE   3  (bases 1 to 2641)
  AUTHORS   Jarrett SM, Seegar TCM, Andrews M, Adelmant G, Marto JA, Aster JC
            and Blacklow SC.
  TITLE     Extension of the Notch intracellular domain ankyrin repeat stack by
            NRARP promotes feedback inhibition of Notch signaling
  JOURNAL   Sci Signal 12 (606) (2019)
   PUBMED   31690634
  REMARK    GeneRIF: Extension of the Notch intracellular domain ankyrin repeat
            stack by NRARP promotes feedback inhibition of Notch signaling.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2641)
  AUTHORS   Zhang M, Qin Y, Zuo B, Gong W, Zhang S, Gong Y, Quan Z and Chu B.
  TITLE     Overexpression of NOTCH-regulated Ankyrin Repeat Protein is
            associated with papillary thyroid carcinoma progression
  JOURNAL   PLoS One 12 (2), e0167782 (2017)
   PUBMED   28207739
  REMARK    GeneRIF: High NRARP expression is associated with papillary thyroid
            carcinoma progression. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2641)
  AUTHORS   Chu BF, Qin YY, Zhang SL, Quan ZW, Zhang MD and Bi JW.
  TITLE     Downregulation of Notch-regulated Ankyrin Repeat Protein Exerts
            Antitumor Activities against Growth of Thyroid Cancer
  JOURNAL   Chin Med J (Engl) 129 (13), 1544-1552 (2016)
   PUBMED   27364790
  REMARK    GeneRIF: Downregulation of NRARP expression exerts significant
            antitumor activities against cell growth and invasion of thyroid
            cancer, that suggests a potential role of NRARP in thyroid cancer
            targeted therapy.
REFERENCE   6  (bases 1 to 2641)
  AUTHORS   Imaoka T, Okutani T, Daino K, Iizuka D, Nishimura M and Shimada Y.
  TITLE     Overexpression of NOTCH-regulated ankyrin repeat protein is
            associated with breast cancer cell proliferation
  JOURNAL   Anticancer Res 34 (5), 2165-2171 (2014)
   PUBMED   24778018
  REMARK    GeneRIF: NRARP may stimulate cell proliferation in human breast
            cancer.
REFERENCE   7  (bases 1 to 2641)
  AUTHORS   Krebs LT, Bradley CK, Norton CR, Xu J, Oram KF, Starling C, Deftos
            ML, Bevan MJ and Gridley T.
  TITLE     The Notch-regulated ankyrin repeat protein is required for proper
            anterior-posterior somite patterning in mice
  JOURNAL   Genesis 50 (4), 366-374 (2012)
   PUBMED   21998026
REFERENCE   8  (bases 1 to 2641)
  AUTHORS   Phng LK, Potente M, Leslie JD, Babbage J, Nyqvist D, Lobov I, Ondr
            JK, Rao S, Lang RA, Thurston G and Gerhardt H.
  TITLE     Nrarp coordinates endothelial Notch and Wnt signaling to control
            vessel density in angiogenesis
  JOURNAL   Dev Cell 16 (1), 70-82 (2009)
   PUBMED   19154719
REFERENCE   9  (bases 1 to 2641)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   10  (bases 1 to 2641)
  AUTHORS   Lamar E, Deblandre G, Wettstein D, Gawantka V, Pollet N, Niehrs C
            and Kintner C.
  TITLE     Nrarp is a novel intracellular component of the Notch signaling
            pathway
  JOURNAL   Genes Dev 15 (15), 1885-1899 (2001)
   PUBMED   11485984
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC053618.1, SRR1163657.23525.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000356628.4/ ENSP00000349041.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX255925.17, BC053618.1, CB066921.1, CB132749.1 and CK819901.1.
            On Nov 22, 2018 this sequence version replaced NM_001004354.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2641
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..2641
                     /gene="NRARP"
                     /note="NOTCH regulated ankyrin repeat protein"
                     /db_xref="GeneID:441478"
                     /db_xref="HGNC:HGNC:33843"
                     /db_xref="MIM:619987"
     CDS             344..688
                     /gene="NRARP"
                     /codon_start=1
                     /product="notch-regulated ankyrin repeat-containing
                     protein"
                     /protein_id="NP_001004354.1"
                     /db_xref="CCDS:CCDS35188.1"
                     /db_xref="GeneID:441478"
                     /db_xref="HGNC:HGNC:33843"
                     /db_xref="MIM:619987"
                     /translation="MSQAELSTCSAPQTQRIFQEAVRKGNTQELQSLLQNMTNCEFNVN
                     SFGPEGQTALHQSVIDGNLELVKLLVKFGADIRLANRDGWSALHIAAFGGHQDIVLYLI
                     TKAKYAASGR"
     misc_feature    491..580
                     /gene="NRARP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6K4.1);
                     Region: ANK 1"
     misc_feature    590..679
                     /gene="NRARP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6K4.1);
                     Region: ANK 2"
     regulatory      1774..1779
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NRARP"
                     /note="hexamer: TATAAA"
     polyA_site      1796
                     /gene="NRARP"
     regulatory      1902..1907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NRARP"
                     /note="hexamer: TATAAA"
     polyA_site      1926
                     /gene="NRARP"
                     /note="major polyA site"
     regulatory      2162..2167
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NRARP"
                     /note="hexamer: AATAAA"
     polyA_site      2194
                     /gene="NRARP"
     regulatory      2526..2531
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NRARP"
                     /note="hexamer: GATAAA"
     polyA_site      2545
                     /gene="NRARP"
     regulatory      2620..2625
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NRARP"
                     /note="hexamer: ATTAAA"
     polyA_site      2641
                     /gene="NRARP"
ORIGIN
        1 agtgctgcgg cgcgtgggga ggcgccttgg gaccgcgtgg gagccgcagc cgaaccgagt
       61 agggaccggg accgcgcggc gccgccgtcc ccggccgggc ccggcccccg cgagccgagc
      121 gcgcgccccc gtcgcccacc cgggcgcggc tggatgcggc ggggtccccg cggcggcgac
      181 ccccggcccc gagcgcccgg agcgcccaga ggcggcgtgc ggggcccggg gacgccgcgc
      241 cctccatgcg ccgaggcgcg ccccgagaca gccgggggcc cgcgccgcag ccgccgcccg
      301 cgctgagccc cggcccggcc cgcggcccgc gcccggcggc agcatgagcc aggccgagct
      361 gtccacctgc tccgcgccgc agacgcagcg catcttccag gaggctgtgc gcaagggcaa
      421 cacgcaggag ctgcagtcgc tgctgcagaa catgaccaac tgcgagttca acgtgaactc
      481 gttcgggccc gagggccaga cggcgctgca ccagtcggtc atcgacggca acctggagct
      541 cgtgaagctg ctggtcaagt tcggcgccga catccgcctg gccaaccgcg acggctggag
      601 cgcgctgcac atcgccgcgt tcggtggcca ccaggacatc gtgctctatc tcatcaccaa
      661 ggcgaagtac gcggccagcg gccggtgatg cccgccggga ccccggaccc cggccctgcg
      721 cccgcgtcgt ctctgctgta ccttcccgcc aactacctcg gtgcgcgccc ggctcgcagg
      781 ccccgccaga aggcccgtgg ccacggcgaa tacggcgcgt gcgtcccggc cccagggtcc
      841 ggcagccccg ccggccgagc gcctccctgc ggcctagccg ggcccggccg ggccggagca
      901 gcttcccacg gcccccaccc gctcgcctgc ccgccgcctc gcgggtgggg gcggggcgcg
      961 ggctccagcc ccttttgaaa tttgagtctc gcaaccagca agttcggaat cccgagatac
     1021 cggatcctct gcgcaaaatg ttttctcccg aaggtgaaag gcgggcggcg ggagccgaag
     1081 gcggactcgg agcgctccgc cgccgccttc aggacccgcc cgcaggcccg ggacgcgccg
     1141 atgccggctg cagccgagga gcagccccga ggtccgaggt ccgcgccgct ggcgcgcggc
     1201 cgaggagacg ctcggctgtt cgctgttgct ggtgttctaa actatttatc ttgtgtgtgt
     1261 acatttgtgg gtggagtttg tgcgcctggt ttttttgttt ggaaaacact gcgtggtcaa
     1321 tgtggttatg ggggggagtg atgcattttt ttctagtctt aaaactaaaa acttgagtct
     1381 accatttctt ggttgcactg aaaataccgc ccagcctgat ggtgttcccg tgctgtccct
     1441 cccccttccc ttctccccgc gtctacctcc ccaccccgtt ctgttccccc tccctccttc
     1501 tccctctccc tcaaatccgt gagttttgga agccccaggg cctctctccc ccgcccctcc
     1561 tggatgaggc caccatcccc caaaccggct tgttttgcag tttccccagg atcctggaag
     1621 ctcgctggcg ctcgagggtg gcggggacac gggggggtgg gtgaaggttc gttacctttt
     1681 ctagtgcgtt ctatcatagt taacggttgc acactttttt aaaaaaagta aatggatttg
     1741 ccacaattaa atgtcataac atttatgaca gaatataaaa tattaacata ttttaagcca
     1801 agttttaggt gtattttttg aatcttggtt ataaacccaa ttttaaaggg cgatgtatcc
     1861 agcgttgtga aggcaacaga gtgtacccat atttatattt ttataaaata cctataagac
     1921 tgtgaatctc ttgtgctaat ggctgagtta attgaaggat cgttttgccc ctttttagcc
     1981 tcccagagct tcgaggactc aattcgaacc cgaaatcctg ccgtggggga ggggttgcgt
     2041 cgagacctgg gcccggggag gttctcctgc gtcactttct gtcctgaaag gcgcccttcc
     2101 tggtttctgt ggctccaatt ttctatgcag ccccacaccc cttgttgttt tgatcctgag
     2161 aaataaaagg gaggctgaat tattcaaatt taaatgaggt ttccccttca tggaagtgct
     2221 gctgaccctt cgtgcagaaa tggggagcac ttgaggacac aggtgggtgg aggccctttg
     2281 tgcgtggctg gtcgtattcg ggcagccctc cgtcgctttt tataaaactt tgtgtgagaa
     2341 gaatatattg ataatgtcag tgaaacaagc agacattgaa atggaggcac agattactcc
     2401 acaaggagtt cttctgtata ttttttctag atgcaaatac ctttttaatt atgttaatta
     2461 atgttaagac tttctaggct tatatcgaag ctgtgtgtgg gtcacggggt gatcactgct
     2521 aactggataa agtttgtgca gcacattcct gagtgtacga tattgacctg tagcccagcg
     2581 tgaaaaattt ataaataaat ttttcattga tctttttata ttaaaaaaaa gtttcttggt
     2641 c
//
LOCUS       NM_001004356            3411 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens fibroblast growth factor receptor like 1 (FGFRL1),
            transcript variant 1, mRNA.
ACCESSION   NM_001004356
VERSION     NM_001004356.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3411)
  AUTHORS   Sharma P, Kaushik V, Saraya A and Sharma R.
  TITLE     Aberrant Expression of FGFRL1 in Esophageal Cancer and Its
            Regulation by miR-107
  JOURNAL   Asian Pac J Cancer Prev 24 (4), 1331-1341 (2023)
   PUBMED   37116156
  REMARK    GeneRIF: Aberrant Expression of FGFRL1 in Esophageal Cancer and Its
            Regulation by miR-107. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3411)
  AUTHORS   Cho HW, Jin HS and Eom YB.
  TITLE     FGFRL1 and FGF genes are associated with height, hypertension, and
            osteoporosis
  JOURNAL   PLoS One 17 (8), e0273237 (2022)
   PUBMED   35980984
  REMARK    GeneRIF: FGFRL1 and FGF genes are associated with height,
            hypertension, and osteoporosis. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3411)
  AUTHORS   Gofin Y, Mackay LP, Machol K, Keswani S, Potocki L, Di Gregorio E,
            Naretto VG, Brusco A, Hernandez-Garcia A and Scott DA.
  TITLE     Evidence that FGFRL1 contributes to congenital diaphragmatic hernia
            development in humans
  JOURNAL   Am J Med Genet A 185 (3), 836-840 (2021)
   PUBMED   33443296
  REMARK    GeneRIF: Evidence that FGFRL1 contributes to congenital
            diaphragmatic hernia development in humans.
REFERENCE   4  (bases 1 to 3411)
  AUTHORS   Zheng C, Shi CJ, Du LJ, Jiang YH and Su JM.
  TITLE     [Expression of fibroblast growth factor receptor like 1 protein in
            oral squamous cell carcinoma and its influence on tumor cell
            proliferation and migration]
  JOURNAL   Hua Xi Kou Qiang Yi Xue Za Zhi 38 (5), 558-565 (2020)
   PUBMED   33085242
  REMARK    GeneRIF: [Expression of fibroblast growth factor receptor like 1
            protein in oral squamous cell carcinoma and its influence on tumor
            cell proliferation and migration].
REFERENCE   5  (bases 1 to 3411)
  AUTHORS   Zhuang L, Vogel M, Villiger PM and Trueb B.
  TITLE     Dissecting the Interaction of FGF8 with Receptor FGFRL1
  JOURNAL   Biomolecules 10 (10), 1399 (2020)
   PUBMED   33019532
  REMARK    GeneRIF: Dissecting the Interaction of FGF8 with Receptor FGFRL1.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3411)
  AUTHORS   Zhang Z and Henzel WJ.
  TITLE     Signal peptide prediction based on analysis of experimentally
            verified cleavage sites
  JOURNAL   Protein Sci 13 (10), 2819-2824 (2004)
   PUBMED   15340161
REFERENCE   7  (bases 1 to 3411)
  AUTHORS   Trueb B, Zhuang L, Taeschler S and Wiedemann M.
  TITLE     Characterization of FGFRL1, a novel fibroblast growth factor (FGF)
            receptor preferentially expressed in skeletal tissues
  JOURNAL   J Biol Chem 278 (36), 33857-33865 (2003)
   PUBMED   12813049
REFERENCE   8  (bases 1 to 3411)
  AUTHORS   Sleeman M, Fraser J, McDonald M, Yuan S, White D, Grandison P,
            Kumble K, Watson JD and Murison JG.
  TITLE     Identification of a new fibroblast growth factor receptor, FGFR5
  JOURNAL   Gene 271 (2), 171-182 (2001)
   PUBMED   11418238
REFERENCE   9  (bases 1 to 3411)
  AUTHORS   Kim I, Moon S, Yu K, Kim U and Koh GY.
  TITLE     A novel fibroblast growth factor receptor-5 preferentially expressed
            in the pancreas(1)
  JOURNAL   Biochim Biophys Acta 1518 (1-2), 152-156 (2001)
   PUBMED   11267671
REFERENCE   10  (bases 1 to 3411)
  AUTHORS   Wiedemann M and Trueb B.
  TITLE     Characterization of a novel protein (FGFRL1) from human cartilage
            related to FGF receptors
  JOURNAL   Genomics 69 (2), 275-279 (2000)
   PUBMED   11031111
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY358303.1, AF312678.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000510644.6/ ENSP00000425025.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC019103.8, AY358303.1,
            BQ689625.1 and BC015228.1.
            On Nov 23, 2018 this sequence version replaced NM_001004356.2.
            Summary: The protein encoded by this gene is a member of the
            fibroblast growth factor receptor (FGFR) family, where amino acid
            sequence is highly conserved between members and throughout
            evolution. FGFR family members differ from one another in their
            ligand affinities and tissue distribution. A full-length
            representative protein would consist of an extracellular region,
            composed of three immunoglobulin-like domains, a single hydrophobic
            membrane-spanning segment and a cytoplasmic tyrosine kinase domain.
            The extracellular portion of the protein interacts with fibroblast
            growth factors, setting in motion a cascade of downstream signals,
            ultimately influencing mitogenesis and differentiation. A marked
            difference between this gene product and the other family members
            is its lack of a cytoplasmic tyrosine kinase domain. The result is
            a transmembrane receptor that could interact with other family
            members and potentially inhibit signaling. Multiple alternatively
            spliced transcript variants encoding the same isoform have been
            found for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3411
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..3411
                     /gene="FGFRL1"
                     /gene_synonym="FGFR-5; FGFR5; FHFR"
                     /note="fibroblast growth factor receptor like 1"
                     /db_xref="GeneID:53834"
                     /db_xref="HGNC:HGNC:3693"
                     /db_xref="MIM:605830"
     misc_feature    262..264
                     /gene="FGFRL1"
                     /gene_synonym="FGFR-5; FGFR5; FHFR"
                     /note="upstream in-frame stop codon"
     CDS             346..1860
                     /gene="FGFRL1"
                     /gene_synonym="FGFR-5; FGFR5; FHFR"
                     /EC_number="3.2.1.76"
                     /note="fibroblast growth factor receptor 5; FGF homologous
                     factor receptor; FGFR-like protein; FGF receptor-like
                     protein 1"
                     /codon_start=1
                     /product="fibroblast growth factor receptor-like 1
                     precursor"
                     /protein_id="NP_001004356.1"
                     /db_xref="CCDS:CCDS3344.1"
                     /db_xref="GeneID:53834"
                     /db_xref="HGNC:HGNC:3693"
                     /db_xref="MIM:605830"
                     /translation="MTPSPLLLLLLPPLLLGAFPPAAAARGPPKMADKVVPRQVARLGR
                     TVRLQCPVEGDPPPLTMWTKDGRTIHSGWSRFRVLPQGLKVKQVEREDAGVYVCKATNG
                     FGSLSVNYTLVVLDDISPGKESLGPDSSSGGQEDPASQQWARPRFTQPSKMRRRVIARP
                     VGSSVRLKCVASGHPRPDITWMKDDQALTRPEAAEPRKKKWTLSLKNLRPEDSGKYTCR
                     VSNRAGAINATYKVDVIQRTRSKPVLTGTHPVNTTVDFGGTTSFQCKVRSDVKPVIQWL
                     KRVEYGAEGRHNSTIDVGGQKFVVLPTGDVWSRPDGSYLNKLLITRARQDDAGMYICLG
                     ANTMGYSFRSAFLTVLPDPKPPGPPVASSSSATSLPWPVVIGIPAGAVFILGTLLLWLC
                     QAQKKPCTPAPAPPLPGHRPPGTARDRSGDKDLPSLAALSAGPGVGLCEEHGSPAAPQH
                     LLGPGPVAGPKLYPKLYTDIHTHTHTHSHTHSHVEGKVHQHIHYQC"
     sig_peptide     346..417
                     /gene="FGFRL1"
                     /gene_synonym="FGFR-5; FGFR5; FHFR"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     418..1857
                     /gene="FGFRL1"
                     /gene_synonym="FGFR-5; FGFR5; FHFR"
                     /product="fibroblast growth factor receptor-like 1"
     misc_feature    676..678
                     /gene="FGFRL1"
                     /gene_synonym="FGFR-5; FGFR5; FHFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N441.1); glycosylation site"
     misc_feature    712..810
                     /gene="FGFRL1"
                     /gene_synonym="FGFR-5; FGFR5; FHFR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N441.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1036..1038
                     /gene="FGFRL1"
                     /gene_synonym="FGFR-5; FGFR5; FHFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N441.1); glycosylation site"
     misc_feature    1108..1110
                     /gene="FGFRL1"
                     /gene_synonym="FGFR-5; FGFR5; FHFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N441.1); glycosylation site"
     misc_feature    1222..1224
                     /gene="FGFRL1"
                     /gene_synonym="FGFR-5; FGFR5; FHFR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N441.1); glycosylation site"
     misc_feature    1480..1542
                     /gene="FGFRL1"
                     /gene_synonym="FGFR-5; FGFR5; FHFR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N441.1);
                     transmembrane region"
     misc_feature    1564..1650
                     /gene="FGFRL1"
                     /gene_synonym="FGFR-5; FGFR5; FHFR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N441.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     polyA_site      3411
                     /gene="FGFRL1"
                     /gene_synonym="FGFR-5; FGFR5; FHFR"
                     /note="major polyA site"
ORIGIN
        1 agagttgaca aagccccgca gggaaggacg cctcgcggcg cggcgccccg ggcccctcgc
       61 cccgccgccc cgggatcccg gccccggccc ccggccccgc ggactcgccc ccgccgcctg
      121 cccggtccgg gaccccgcgc cccgagcgcc cgagcccgga ccccgacccg gcccgagccg
      181 cccgcgccca ggtagcgccg ccccgccccg agaccgggcc cgggggcgcg gggcggcggg
      241 atgcggcgcc cggggcggcg atgaccgcgg agcgcacgcc gcgggcccgg ccctgacccc
      301 gccgcccgcc cgctgagccc cccgccgagg tccggacagg ccgagatgac gccgagcccc
      361 ctgttgctgc tcctgctgcc gccgctgctg ctgggggcct tcccgccggc cgccgccgcc
      421 cgaggccccc caaagatggc ggacaaggtg gtcccacggc aggtggcccg gctgggccgc
      481 actgtgcggc tgcagtgccc agtggagggg gacccgccgc cgctgaccat gtggaccaag
      541 gatggccgca ccatccacag cggctggagc cgcttccgcg tgctgccgca ggggctgaag
      601 gtgaagcagg tggagcggga ggatgccggc gtgtacgtgt gcaaggccac caacggcttc
      661 ggcagcctga gcgtcaacta caccctcgtc gtgctggatg acattagccc agggaaggag
      721 agcctggggc ccgacagctc ctctgggggt caagaggacc ccgccagcca gcagtgggca
      781 cgaccgcgct tcacacagcc ctccaagatg aggcgccggg tgatcgcacg gcccgtgggt
      841 agctccgtgc ggctcaagtg cgtggccagc gggcaccctc ggcccgacat cacgtggatg
      901 aaggacgacc aggccttgac gcgcccagag gccgctgagc ccaggaagaa gaagtggaca
      961 ctgagcctga agaacctgcg gccggaggac agcggcaaat acacctgccg cgtgtcgaac
     1021 cgcgcgggcg ccatcaacgc cacctacaag gtggatgtga tccagcggac ccgttccaag
     1081 cccgtgctca caggcacgca ccccgtgaac acgacggtgg acttcggggg gaccacgtcc
     1141 ttccagtgca aggtgcgcag cgacgtgaag ccggtgatcc agtggctgaa gcgcgtggag
     1201 tacggcgccg agggccgcca caactccacc atcgatgtgg gcggccagaa gtttgtggtg
     1261 ctgcccacgg gtgacgtgtg gtcgcggccc gacggctcct acctcaataa gctgctcatc
     1321 acccgtgccc gccaggacga tgcgggcatg tacatctgcc ttggcgccaa caccatgggc
     1381 tacagcttcc gcagcgcctt cctcaccgtg ctgccagacc caaaaccgcc agggccacct
     1441 gtggcctcct cgtcctcggc cactagcctg ccgtggcccg tggtcatcgg catcccagcc
     1501 ggcgctgtct tcatcctggg caccctgctc ctgtggcttt gccaggccca gaagaagccg
     1561 tgcacccccg cgcctgcccc tcccctgcct gggcaccgcc cgccggggac ggcccgcgac
     1621 cgcagcggag acaaggacct tccctcgttg gccgccctca gcgctggccc tggtgtgggg
     1681 ctgtgtgagg agcatgggtc tccggcagcc ccccagcact tactgggccc aggcccagtt
     1741 gctggcccta agttgtaccc caaactctac acagacatcc acacacacac acacacacac
     1801 tctcacacac actcacacgt ggagggcaag gtccaccagc acatccacta tcagtgctag
     1861 acggcaccgt atctgcagtg ggcacggggg ggccggccag acaggcagac tgggaggatg
     1921 gaggacggag ctgcagacga aggcagggga cccatggcga ggaggaatgg ccagcacccc
     1981 aggcagtctg tgtgtgaggc atagcccctg gacacacaca cacagacaca cacactgcct
     2041 ggatgcatgt atgcacacac atgcgcgcac acgtgctccc tgaaggcaca cgtacgcaca
     2101 cacgcacatg cacagatatg ccgcctgggc acacagataa gctgcccaaa tgcacgcaca
     2161 cgcacagaga catgccagaa catacaagga catgctgcct gaacatacac acgcacaccc
     2221 atgcgcagat gtgctgcctg gacacacaca cacacacgga tatgctgtct ggacgcacac
     2281 acgtgcagat atggtatccg gacacacacg tgcacagata tgctgcctgg acacacagat
     2341 aatgctgcct tgacacacac atgcacggat attgcctgga cacacacaca cacacgtgtg
     2401 cacagatatg ctgtctggac acgcacacac atgcagatat gctgcctgga cacacacttc
     2461 cagacacacg tgcacaggcg cagatatgct gcctggacac acgcagatat gctgtctagt
     2521 cacacacaca cgcagacatg ctgtccggac acacacacgc atgcacagat atgctgtccg
     2581 gacacacaca cgcacgcaga tatgctgcct ggacacacac acagataatg ctgcctcaac
     2641 actcacacac gtgcagatat tgcctggaca cacacatgtg cacagatatg ctgtctggac
     2701 atgcacacac gtgcagatat gctgtccgga tacacacgca cgcacacatg cagatatgct
     2761 gcctgggcac acacttccgg acacacatgc acacacaggt gcagatatgc tgcctggaca
     2821 cacgcagact gacgtgcttt tgggagggtg tgccgtgaag cctgcagtac gtgtgccgtg
     2881 aggctcatag ttgatgaggg actttccctg ctccaccgtc actcccccaa ctctgcccgc
     2941 ctctgtcccc gcctcagtcc ccgcctccat ccccgcctct gtcccctggc cttggcggct
     3001 atttttgcca cctgccttgg gtgcccagga gtcccctact gctgtgggct ggggttgggg
     3061 gcacagcagc cccaagcctg agaggctgga gcccatggct agtggctcat ccccactgca
     3121 ttctccccct gacacagaga aggggccttg gtatttatat ttaagaaatg aagataatat
     3181 taataatgat ggaaggaaga ctgggttgca gggactgtgg tctctcctgg ggcccgggac
     3241 ccgcctggtc tttcagccat gctgatgacc acaccccgtc caggccagac accacccccc
     3301 accccactgt cgtggtggcc ccagatctct gtaattttat gtagagtttg agctgaagcc
     3361 ccgtatattt aatttatttt gttaaacatg aaagtgcatc ctttccctcc a
//
LOCUS       NM_001004416            4879 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens uromodulin like 1 (UMODL1), transcript variant 1, mRNA.
ACCESSION   NM_001004416
VERSION     NM_001004416.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4879)
  AUTHORS   Zhu MM, Yap MK, Ho DW, Fung WY, Ng PW, Gu YS and Yip SP.
  TITLE     Investigating the relationship between UMODL1 gene polymorphisms and
            high myopia: a case-control study in Chinese
  JOURNAL   BMC Med Genet 13, 64 (2012)
   PUBMED   22857148
  REMARK    GeneRIF: It was shown that common UMODL1 polymorphisms are unlikely
            to be important in the genetic susceptibility to high myopia in Han
            Chinese. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4879)
  AUTHORS   Nishizaki R, Ota M, Inoko H, Meguro A, Shiota T, Okada E, Mok J, Oka
            A, Ohno S and Mizuki N.
  TITLE     New susceptibility locus for high myopia is linked to the
            uromodulin-like 1 (UMODL1) gene region on chromosome 21q22.3
  JOURNAL   Eye (Lond) 23 (1), 222-229 (2009)
   PUBMED   18535602
  REMARK    GeneRIF: result suggests that rs283971 is located in the frequent
            recombinant region on the UMODL1, and that this region might play a
            critical role in disease susceptibility to high myopia. GeneRIF:
            Observational study of gene-disease association. (HuGE Navigator)
REFERENCE   3  (bases 1 to 4879)
  AUTHORS   Di Schiavi E, Riano E, Heye B, Bazzicalupo P and Rugarli EI.
  TITLE     UMODL1/Olfactorin is an extracellular membrane-bound molecule with a
            restricted spatial expression in olfactory and vomeronasal neurons
  JOURNAL   Eur J Neurosci 21 (12), 3291-3300 (2005)
   PUBMED   16026467
REFERENCE   4  (bases 1 to 4879)
  AUTHORS   Shibuya K, Nagamine K, Okui M, Ohsawa Y, Asakawa S, Minoshima S,
            Hase T, Kudoh J and Shimizu N.
  TITLE     Initial characterization of an uromodulin-like 1 gene on human
            chromosome 21q22.3
  JOURNAL   Biochem Biophys Res Commun 319 (4), 1181-1189 (2004)
   PUBMED   15194491
  REMARK    GeneRIF: Data report the isolation of a novel gene, designated
            UMODL1, similar to uromodulin (UMOD)/Tamm-Horsfall glycoprotein, on
            human chromosome 21q22.3.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY771620.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000408910.7/ ENSP00000386147.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001620.1, AP001621.1 and AP001622.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 18, 2020 this sequence version replaced NM_001004416.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4879
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..4879
                     /gene="UMODL1"
                     /note="uromodulin like 1"
                     /db_xref="GeneID:89766"
                     /db_xref="HGNC:HGNC:12560"
                     /db_xref="MIM:613859"
     CDS             1..3957
                     /gene="UMODL1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; olfactorin"
                     /codon_start=1
                     /product="uromodulin-like 1 isoform 1 precursor"
                     /protein_id="NP_001004416.3"
                     /db_xref="CCDS:CCDS42936.1"
                     /db_xref="GeneID:89766"
                     /db_xref="HGNC:HGNC:12560"
                     /db_xref="MIM:613859"
                     /translation="MLRTSGLALLALVSAVGPSQASGFTEKGLSLLGYQLCSHRVTHTV
                     QKVEAVQTSYTSYVSCGGWIPWRRCPKMVYRTQYLVVEVPESRNVTDCCEGYEQLGLYC
                     VLPLNQSGQFTSRPGACPAEGPEPSTSPCSLDIDCPGLEKCCPWSGGRYCMAPAPQAPE
                     RDPVGSWYNVTILVKMDFKELQQVDPRLLNHMRLLHSLVTSALQPMASTVHHLHSAPGN
                     ASTTVSRLLLGLPRPLPVADVSTLLGDIAKRVYEVISVQVQDVNECFYEELNACSGREL
                     CANLEGSYWCVCHQEAPATSPRKLNLEWEDCPPVSDYVVLNVTSDSFQVSWRLNSTQNH
                     TFHVRVYRGMELLRSARTQSQALAVAGLEAGVLYRVKTSYQGCGADVSTTLTIKTNAQV
                     FEVTIKIVNHNLTEKLLNRSSVEYQDFSRQLLHEVESSFPPVVSDLYRSGKLRMQIVSL
                     QAGSVVVRLKLTVQDPGFPMGISTLAPILQPLLASTVFQIDRQGTRVQDWDECVDSAEH
                     DCSPAAWCINLEGSYTCQCRTTRDATPSRAGRACEGDLVSPMGGGLSAATGVTVPGLGT
                     GTAALGLENFTLSPSPGYPQGTPAAGQAWTPEPSPRRGGSNVVGYDRNNTGKGVEQELQ
                     GNSIMEPPSWPSPTEDPTGHFLWHATRSTRETLLNPTWLRNEDSGPSGSVDLPLTSTLT
                     ALKTPACVPVSIGRIMVSNVTSTGFHLAWEADLAMDSTFQLTLTSMWSPAVVLETWNTS
                     VTLSGLEPGVLHLVEIMAKACGKEGARAHLKVRTAARKLIGKVRIKNVRYSESFRNASS
                     QEYRDFLELFFRMVRGSLPATMCQHMDAGGVRMEVVSVTNGSIVVEFHLLIIADVDVQE
                     VSAAFLTAFQTVPLLEVIRGDTFIQDYDECERKEDDCVPGTSCRNTLGSFTCSCEGGAP
                     DFPVEYSERPCEGDSPGNETWATSPERPLTTAGTKAAFVQGTSPTPQGLPQRLNLTGAV
                     RVLCEIEKVVVAIQKRFLQQESIPESSLYLSHPSCNVSHSNGTHVLLEAGWSECGTLMQ
                     SNMTNTVVRTTLRNDLSQEGIIHHLKILSPIYCAFQNDLLTSSGFTLEWGVYTIIEDLH
                     GAGNFVTEMQLFIGDSPIPQNYSVSASDDVRIEVGLYRQKSNLKVVLTECWATPSSNAR
                     DPITFSFINNSCPVPNTYTNVIENGNSNKAQFKLRIFSFINDSIVYLHCKLRVCMESPG
                     ATCKINCNNFRLLQNSETSATHQMSWGPLIRSEGEPPHAEAGLGAGYVVLIVVAIFVLV
                     AGTATLLIVRYQRMNGRYNFKIQSNNFSYQVFYE"
     sig_peptide     1..63
                     /gene="UMODL1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     64..3954
                     /gene="UMODL1"
                     /product="Uromodulin-like 1. /id=PRO_0000228127"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5DID0.2)"
     misc_feature    265..267
                     /gene="UMODL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5DID0.2); glycosylation site"
     misc_feature    325..327
                     /gene="UMODL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5DID0.2); glycosylation site"
     misc_feature    514..516
                     /gene="UMODL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5DID0.2); glycosylation site"
     misc_feature    964..966
                     /gene="UMODL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5DID0.2); glycosylation site"
     misc_feature    1003..1005
                     /gene="UMODL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5DID0.2); glycosylation site"
     misc_feature    1249..1251
                     /gene="UMODL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5DID0.2); glycosylation site"
     misc_feature    1753..1755
                     /gene="UMODL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5DID0.2); glycosylation site"
     misc_feature    1777..1965
                     /gene="UMODL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5DID0.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2137..2139
                     /gene="UMODL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5DID0.2); glycosylation site"
     misc_feature    2812..2871
                     /gene="UMODL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5DID0.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2950..2952
                     /gene="UMODL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5DID0.2); glycosylation site"
     misc_feature    3148..3150
                     /gene="UMODL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5DID0.2); glycosylation site"
     misc_feature    3817..3879
                     /gene="UMODL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5DID0.2);
                     transmembrane region"
     regulatory      4390..4395
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UMODL1"
                     /note="hexamer: AATATA"
     polyA_site      4413
                     /gene="UMODL1"
     regulatory      4851..4856
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UMODL1"
                     /note="hexamer: AATAAA"
     polyA_site      4879
                     /gene="UMODL1"
                     /note="major polyA site"
ORIGIN
        1 atgctcagga cctcggggct ggcactgctg gctctggtca gtgctgtggg cccaagccag
       61 gccagcggct tcacagaaaa aggcctctcc ctgttgggct accagctatg cagccaccgt
      121 gtgacccaca ctgtacagaa ggtggaggcc gtgcagacgt cctacacgtc ctatgtgtcc
      181 tgcggcggct ggatcccctg gaggcggtgc cctaagatgg tttaccggac acagtacctg
      241 gtagtggagg tccccgagtc caggaacgtg actgactgct gtgagggcta tgaacagctc
      301 ggcctctact gtgtcttgcc cctgaatcag tccgggcagt tcacgtcaag acctggggcc
      361 tgccccgcag aggggcctga accatccacc tccccctgca gcttggacat cgactgtcct
      421 ggacttgaga agtgctgccc ctggtcaggg gggcgctact gcatggcccc tgcaccccaa
      481 gctccagaga gggaccctgt gggctcctgg tacaacgtca ccatactggt gaaaatggac
      541 ttcaaggaac tccagcaagt ggaccccagg ctcctgaacc acatgcgcct tctgcattcc
      601 ttggtcacca gcgccctgca accaatggcc tccaccgtcc accacctgca ctcagcccct
      661 gggaacgcct ccaccacagt gtcgcggctg ctactgggcc tgccacggcc actgcctgtg
      721 gctgacgtct ccaccctgct gggtgacatt gcgaagcgtg tctatgaagt gatcagcgtc
      781 caggtgcaag atgtcaatga gtgtttctat gaggagctca atgcctgctc tggaagggaa
      841 ctgtgcgcaa acctggaggg ctcgtactgg tgcgtctgtc accaggaagc tccagccacg
      901 tctccacgga agctgaacct ggagtgggaa gattgtcctc cagtcagtga ctacgtggtc
      961 ctcaacgtca ccagtgacag ttttcaagta tcctggcgtt taaattctac acagaaccac
     1021 actttccatg tccgggttta ccggggtatg gagttgctca ggagcgccag gacacagagc
     1081 caggcactgg cagtggctgg gctggaggct ggagtgctgt acagggtgaa gaccagctac
     1141 caggggtgcg gggccgacgt ctccaccacg ctgaccatca aaaccaatgc ccaggtattt
     1201 gaagtcacaa taaagattgt aaaccacaac ctgacggaga agttactcaa ccgcagcagt
     1261 gtggagtacc aggacttttc tagacaactg cttcacgagg tcgagagctc cttcccacca
     1321 gtggtgtctg acttgtaccg aagtgggaag ctgagaatgc agatcgtgtc tctccaggcg
     1381 ggaagtgtgg tcgtgaggct caagctcacc gtgcaggacc ccgggtttcc catgggcatc
     1441 tccacgctgg cccccatact ccagcccctg ttggcaagca cagtgttcca gattgaccgg
     1501 caggggacac gcgtgcaaga ctgggacgag tgtgtggaca gcgcggaaca cgactgctca
     1561 ccggctgcct ggtgcatcaa cctggagggc tcctacacct gccagtgccg taccaccagg
     1621 gacgccaccc cctcccgcgc aggccgggcc tgtgagggtg acctggtgag ccccatgggc
     1681 ggtggactgt ctgcggcaac aggggtaacg gtcccaggtc ttggcacggg aacagcagcc
     1741 ctcggcctag agaacttcac cttgtcaccc agtcctgggt accctcaggg caccccggca
     1801 gcaggccagg cctggacccc agagccctca cccagaagag ggggcagcaa tgtggtcggg
     1861 tatgacagga acaacacagg aaaaggcgtg gagcaggagc tacagggaaa ctccatcatg
     1921 gagccaccct cctggccttc ccctactgag gaccccaccg gccacttcct gtggcatgcc
     1981 acccgttcca cccgggaaac acttctgaat cccacgtggc tgcgaaatga ggacagtgga
     2041 ccctccggtt ctgtagacct gccattgacc tccaccctca cagctctgaa gacccccgcc
     2101 tgtgttcctg tctccattgg gaggatcatg gtctccaatg tgaccagcac cggcttccac
     2161 ctggcatggg aggcggatct tgctatggac tccaccttcc agctcactct gacttccatg
     2221 tggagccctg ctgtggtcct agagacctgg aacacgagtg tgacactgtc ggggctggag
     2281 cctggggtct tgcacctggt tgagatcatg gccaaagcat gtgggaaaga aggtgccaga
     2341 gctcatctga aagtgaggac agcagcccgg aagctcattg gaaaggtcag aatcaaaaat
     2401 gtcaggtact cagaatcctt tcgcaacgca agcagccagg agtatcgaga tttcctagaa
     2461 ctattcttca ggatggtgcg gggctccctg ccagccacca tgtgtcagca catggacgct
     2521 ggtggggtca ggatggaagt cgtcagcgtc accaacggca gcatcgtggt ggagtttcac
     2581 ttgctgataa tcgcagatgt ggatgtccag gaggtgtcag ctgcatttct caccgccttc
     2641 cagaccgtgc ctctgctgga ggtgatcaga ggcgacacct tcatacagga ttacgatgag
     2701 tgtgaaagga aggaggacga ctgtgtgccg gggacatcct gtcgaaacac cctcgggtct
     2761 ttcacttgta gctgcgaggg aggagccccc gacttccctg tggaatattc tgagagaccc
     2821 tgtgaaggtg actctcctgg caatgaaacc tgggccacca gcccagagag gcctctcacc
     2881 acagcaggga ccaaggctgc ctttgtgcaa ggcaccagcc ccacccccca aggcctgccc
     2941 cagcggctga acctgaccgg agcagtcagg gtgctctgtg agatcgagaa ggtggttgtc
     3001 gccatccaga agcgcttcct gcagcaggaa tccatccccg agtcctcgtt gtacctcagc
     3061 cacccctcct gcaacgtgag ccacagcaat ggcacacacg tgctcctgga ggccggctgg
     3121 agcgagtgtg ggaccctcat gcagagcaac atgacgaaca ccgtggtgag gaccacgctg
     3181 aggaacgacc tgtcccagga gggcatcatc caccacctga agatcctgag ccccatctac
     3241 tgcgccttcc agaatgacct gctgacatcc tccggcttca ccctggagtg gggggtttac
     3301 accatcatcg aggacctcca cggcgctggg aattttgtta ccgaaatgca gttgtttatc
     3361 ggagactctc ccatacctca gaattatagc gtgtctgcca gtgacgatgt caggatcgaa
     3421 gtggggctct acaggcagaa aagcaacctc aaggtggtcc tgacggagtg ctgggcaacc
     3481 ccgtctagca acgcccggga ccccatcacc ttcagcttca ttaacaacag ctgccctgtg
     3541 cccaacacat acaccaacgt gattgagaac ggcaactcca ataaggccca gttcaagctg
     3601 aggatctttt cctttatcaa cgactccatc gtctacctgc actgcaaact ccgcgtctgc
     3661 atggaatccc ccggagccac gtgcaaaatc aattgcaata actttcggtt gctgcaaaat
     3721 agtgaaacct ctgccacaca ccagatgtcc tggggacccc tcatccggtc tgaaggtgag
     3781 cctcctcatg cagaagcagg cctgggtgcc ggttatgtgg tccttattgt ggtggccatc
     3841 ttcgtgctgg tggcgggaac agccaccctt ctgatcgtgc gctaccagag aatgaatggg
     3901 agatacaact ttaaaatcca gtccaacaac ttcagctacc aggtgttcta cgaataggag
     3961 gcgcaggctg acaggaaggt cgccgtgagt caagctgcct ccagaacctc agagcttccc
     4021 tggtgggctc ccccgggatc cccagtgtct ctctgcacct ccacccatcc ctcggttctt
     4081 aactcttcaa gccttaacgg aggtctgctc tgacgggtgg gctctgccag agcccgggtg
     4141 agcccagaaa ggaagacagc agccaccgtc tgtcccgaag aggcaggccg tcctgtaggt
     4201 cctagaggag ccacagccca ggggcagatg aaggggctgc ggaagacggg ggcagtcctg
     4261 ggggtgctgc ggctacacca ccacccgcgc ggcccccgca gcctagacct cccaggcctg
     4321 tgaccctcca caccagccct cagaaccctc ctgggcttgc cctcccttgg cgtccgtcac
     4381 cctttggcaa atatagaata tttcacattc tcagagagac ccgaccgcgc tcttgatgct
     4441 ctttcgaaaa taggtcagtc ttagaaatac actgctaatg ttatttttag tggatgttta
     4501 tgctgtttga cttttctcct gtgtaccaag gtattgcttt tatttacacg acagcgactc
     4561 aaaaggcact cgattaatgt gacaaccttt tcaataagca gaaataacgt aggtacacat
     4621 cactctttac atttttctaa gcattttcac agccgtttct tcatataatc cgaccacagt
     4681 gggaggtgtg atttacccat tacacaatga gaaaccagag gagccgatga gttacttaat
     4741 tgaggtcaca gaatgaatta gcaagaaaat ggttctaaaa tctaagtatt ttagtctaga
     4801 attttctcca ttacatcatc ctaagagata atgctctgta cttcatttga aataaactgg
     4861 aattgtatta gatagctca
//
LOCUS       NM_001004431            1690 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens meteorin like, glial cell differentiation regulator
            (METRNL), transcript variant 1, mRNA.
ACCESSION   NM_001004431
VERSION     NM_001004431.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1690)
  AUTHORS   Zhou Y, Liu L, Jin B, Wu Y, Xu L, Chang X, Hu L, Wang G, Huang Y,
            Song L, Zhang T, Wang Y, Xiao Y, Zhang F, Shi M, Liu L, Wang T, Yan
            R and Guo B.
  TITLE     Metrnl Alleviates Lipid Accumulation by Modulating Mitochondrial
            Homeostasis in Diabetic Nephropathy
  JOURNAL   Diabetes 72 (5), 611-626 (2023)
   PUBMED   36812572
  REMARK    GeneRIF: Metrnl Alleviates Lipid Accumulation by Modulating
            Mitochondrial Homeostasis in Diabetic Nephropathy.
REFERENCE   2  (bases 1 to 1690)
  AUTHORS   Yavuz A, Aydin MA, Ugur K, Aydin S, Senol A, Baykus Y, Deniz R,
            Sahin I, Yalcin MH, Gencer BT, Deniz YK, Ustebay S, Karagoz ZK, Emre
            E and Aydin S.
  TITLE     Betatrophin, elabela, asprosin, glucagon and subfatin peptides in
            breast tissue, blood and milk in gestational diabetes
  JOURNAL   Biotech Histochem 98 (4), 243-254 (2023)
   PUBMED   36825397
  REMARK    GeneRIF: Betatrophin, elabela, asprosin, glucagon and subfatin
            peptides in breast tissue, blood and milk in gestational diabetes.
REFERENCE   3  (bases 1 to 1690)
  AUTHORS   Zhang S, Lei Y, Sun T, Gao Z, Li Z and Shen H.
  TITLE     Elevated levels of Metrnl in rheumatoid arthritis: Association with
            disease activity
  JOURNAL   Cytokine 159, 156026 (2022)
   PUBMED   36084603
  REMARK    GeneRIF: Elevated levels of Metrnl in rheumatoid arthritis:
            Association with disease activity.
REFERENCE   4  (bases 1 to 1690)
  AUTHORS   Gong L, Huang G, Weng L, Xu J, Li Y, Cui W and Li M.
  TITLE     Decreased serum interleukin-41/Metrnl levels in patients with
            Graves' disease
  JOURNAL   J Clin Lab Anal 36 (10), e24676 (2022)
   PUBMED   36036749
  REMARK    GeneRIF: Decreased serum interleukin-41/Metrnl levels in patients
            with Graves' disease.
REFERENCE   5  (bases 1 to 1690)
  AUTHORS   Reboll MR, Klede S, Taft MH, Cai CL, Field LJ, Lavine KJ, Koenig AL,
            Fleischauer J, Meyer J, Schambach A, Niessen HW, Kosanke M, van den
            Heuvel J, Pich A, Bauersachs J, Wu X, Zheng L, Wang Y,
            Korf-Klingebiel M, Polten F and Wollert KC.
  TITLE     Meteorin-like promotes heart repair through endothelial KIT receptor
            tyrosine kinase
  JOURNAL   Science 376 (6599), 1343-1347 (2022)
   PUBMED   35709278
  REMARK    GeneRIF: Meteorin-like promotes heart repair through endothelial KIT
            receptor tyrosine kinase.
REFERENCE   6  (bases 1 to 1690)
  AUTHORS   Dadmanesh M, Aghajani H, Fadaei R and Ghorban K.
  TITLE     Lower serum levels of Meteorin-like/Subfatin in patients with
            coronary artery disease and type 2 diabetes mellitus are negatively
            associated with insulin resistance and inflammatory cytokines
  JOURNAL   PLoS One 13 (9), e0204180 (2018)
   PUBMED   30212581
  REMARK    GeneRIF: Lower serum levels of Metrnl in patients with coronary
            artery disease and type 2 diabetes mellitus are negatively
            associated with insulin resistance and inflammatory cytokines.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1690)
  AUTHORS   Loffler D, Landgraf K, Rockstroh D, Schwartze JT, Dunzendorfer H,
            Kiess W and Korner A.
  TITLE     METRNL decreases during adipogenesis and inhibits adipocyte
            differentiation leading to adipocyte hypertrophy in humans
  JOURNAL   Int J Obes (Lond) 41 (1), 112-119 (2017)
   PUBMED   27748745
  REMARK    GeneRIF: downregulation of METRNL during adipogenesis and functional
            induction of increased proliferation in stromal vascular fraction
            cells with concomitant inhibition of adipocyte differentiation may
            result in hypertrophic AT accumulation
REFERENCE   8  (bases 1 to 1690)
  AUTHORS   Gong W, Liu Y, Wu Z, Wang S, Qiu G and Lin S.
  TITLE     Meteorin-Like Shows Unique Expression Pattern in Bone and Its
            Overexpression Inhibits Osteoblast Differentiation
  JOURNAL   PLoS One 11 (10), e0164446 (2016)
   PUBMED   27716826
  REMARK    GeneRIF: Overexpression of METRNL inhibited mineralized nodule
            formation. Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1690)
  AUTHORS   Li ZY, Song J, Zheng SL, Fan MB, Guan YF, Qu Y, Xu J, Wang P and
            Miao CY.
  TITLE     Adipocyte Metrnl Antagonizes Insulin Resistance Through PPARgamma
            Signaling
  JOURNAL   Diabetes 64 (12), 4011-4022 (2015)
   PUBMED   26307585
  REMARK    GeneRIF: Data suggest that there is no correlation between serum
            Metrnl levels and BMI (body mass index) in humans.
REFERENCE   10  (bases 1 to 1690)
  AUTHORS   Li ZY, Zheng SL, Wang P, Xu TY, Guan YF, Zhang YJ and Miao CY.
  TITLE     Subfatin is a novel adipokine and unlike Meteorin in adipose and
            brain expression
  JOURNAL   CNS Neurosci Ther 20 (4), 344-354 (2014)
   PUBMED   24393292
  REMARK    GeneRIF: Results show that Subfatin is a novel adipokine regulated
            by adipogenesis and obesity, with tissue distribution different from
            its homologue Meteorin
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.261913.1, BC082252.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000320095.12/ ENSP00000315731.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC130371.4, BC082252.1, DR760693.1 and CF264755.1.
            On Nov 22, 2018 this sequence version replaced NM_001004431.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1690
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..1690
                     /gene="METRNL"
                     /note="meteorin like, glial cell differentiation regulator"
                     /db_xref="GeneID:284207"
                     /db_xref="HGNC:HGNC:27584"
                     /db_xref="MIM:616241"
     misc_feature    100..102
                     /gene="METRNL"
                     /note="upstream in-frame stop codon"
     CDS             208..1143
                     /gene="METRNL"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; meteorin-like protein; subfatin; meteorin, glial cell
                     differentiation regulator-like; cometin"
                     /codon_start=1
                     /product="meteorin-like protein isoform 1 precursor"
                     /protein_id="NP_001004431.1"
                     /db_xref="CCDS:CCDS32779.1"
                     /db_xref="GeneID:284207"
                     /db_xref="HGNC:HGNC:27584"
                     /db_xref="MIM:616241"
                     /translation="MRGAARAAWGRAGQPWPRPPAPGPPPPPLPLLLLLLAGLLGGAGA
                     QYSSDRCSWKGSGLTHEAHRKEVEQVYLRCAAGAVEWMYPTGALIVNLRPNTFSPARHL
                     TVCIRSFTDSSGANIYLEKTGELRLLVPDGDGRPGRVQCFGLEQGGLFVEATPQQDIGR
                     RTTGFQYELVRRHRASDLHELSAPCRPCSDTEVLLAVCTSDFAVRGSIQQVTHEPERQD
                     SAIHLRVSRLYRQKSRVFEPVPEGDGHWQGRVRTLLECGVRPGHGDFLFTGHMHFGEAR
                     LGCAPRFKDFQRMYRDAQERGLNPCEVGTD"
     sig_peptide     208..342
                     /gene="METRNL"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    208..279
                     /gene="METRNL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1393..1398
                     /regulatory_class="polyA_signal_sequence"
                     /gene="METRNL"
                     /note="hexamer: AAGAAA"
     polyA_site      1415
                     /gene="METRNL"
     regulatory      1669..1674
                     /regulatory_class="polyA_signal_sequence"
                     /gene="METRNL"
                     /note="hexamer: AATAAA"
     polyA_site      1690
                     /gene="METRNL"
                     /note="major polyA site"
ORIGIN
        1 agaggctcgg cggcggcggc gggcgcggag ctctgcgcgc ggctccagcg ggccgggatg
       61 ggcgggcggc cgcgcggagg acgcgggggg cgcgcgacgt gaccacccgg actcgaagcc
      121 cgccccgccc ccgcccggct cgccggctcc ggggtctgct ccgggggtcg cggacgcggg
      181 gccgggcggc ggagccggcg ccagagcatg cggggcgcgg cgcgggcggc ctgggggcgc
      241 gcggggcagc cgtggccgcg accccccgcc ccgggcccgc ccccgccgcc gctcccgctg
      301 ctgctcctgc tcctggccgg gctgctgggc ggcgcgggcg cgcagtactc cagcgaccgg
      361 tgcagctgga aggggagcgg gctgacgcac gaggcacaca ggaaggaggt ggagcaggtg
      421 tatctgcgct gtgcggcggg tgccgtggag tggatgtacc caacaggtgc tctcatcgtt
      481 aacctgcggc ccaacacctt ctcgcctgcc cggcacctga ccgtgtgcat caggtccttc
      541 acggactcct cgggggccaa tatttatttg gaaaaaactg gagaactgag actgctggta
      601 ccagacgggg acggcaggcc cggccgggtg cagtgttttg gcctggagca gggcggcctg
      661 ttcgtggagg ccacgccgca gcaggatatc ggccggagga ccacaggctt ccagtacgag
      721 ctggttagga ggcacagggc gtcggacctg cacgagctgt ctgcgccgtg ccgtccctgc
      781 agtgacaccg aggtgctcct agccgtctgc accagcgact tcgccgttcg aggctccatc
      841 cagcaagtta cccacgagcc tgagcggcag gactcagcca tccacctgcg cgtgagcaga
      901 ctctatcggc agaaaagcag ggtcttcgag ccggtgcccg agggtgacgg ccactggcag
      961 gggcgcgtca ggacgctgct ggagtgtggc gtgcggccgg ggcatggcga cttcctcttc
     1021 actggccaca tgcacttcgg ggaggcgcgg ctcggctgtg ccccacgctt caaggacttc
     1081 cagaggatgt acagggatgc ccaggagagg gggctgaacc cttgtgaggt tggcacggac
     1141 tgactccgtg ggccgctgcc cttcctctcc tgatgagtca caggctgcgg tgggcgctgc
     1201 ggtcctggtg gggccgtgcg gtgagggccg cgcgctggga gccgcatgcc ctgggcccag
     1261 gcctgaccct ggtaccgaag ctgtggacgt tctcgccaca ctcaacccca tgagcttcca
     1321 gccaaggatg ccctggccga ttggaaatgc tgtaaaatgc aaactaagtt attatatttt
     1381 tttttggtaa aaaagaaatg tccataggaa acaaattccc gtgtcttaaa acgccttggt
     1441 gtgccgtctg atactgttct ctaaagacgt taggagtcac ggcatctggc ctgcggttgg
     1501 gtgaagcact ggccgttggg cacagtggat gtgtgaaaag gtgccattca gagttgttat
     1561 tctcatgacg gaagttttgg agccaaataa tacgtttttt attttcattt tatttttaaa
     1621 ggatgagctt tggtcctttt caggccgccg gttgtttccg ttcccgagaa taaagacgag
     1681 gatccgacca
//
LOCUS       NM_001004432            2644 bp    mRNA    linear   PRI 15-SEP-2020
DEFINITION  Homo sapiens leucine rich repeat and Ig domain containing 4
            (LINGO4), mRNA.
ACCESSION   NM_001004432
VERSION     NM_001004432.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2644)
  AUTHORS   Liang H, Zheng W, Xu H, Lei J, Song Z, Jiang X, Zeng Z and Deng H.
  TITLE     No evidence of association between the LINGO4 gene and essential
            tremor in Chinese Han patients
  JOURNAL   Parkinsonism Relat. Disord. 18 (3), 303-305 (2012)
   PUBMED   22104011
  REMARK    GeneRIF: variants in coding region of the LINGO4 gene may play
            little or no role in the risk of Essential tremor susceptibility
REFERENCE   2  (bases 1 to 2644)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res. 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.25781.1,
            SRR1803615.246381.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368820.4/ ENSP00000357810.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL589765.19.
            On Aug 5, 2019 this sequence version replaced NM_001004432.3.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2644
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..2644
                     /gene="LINGO4"
                     /gene_synonym="DAAT9248; LRRN6D; PRO34002"
                     /note="leucine rich repeat and Ig domain containing 4"
                     /db_xref="GeneID:339398"
                     /db_xref="HGNC:HGNC:31814"
                     /db_xref="MIM:609794"
     misc_feature    81..83
                     /gene="LINGO4"
                     /gene_synonym="DAAT9248; LRRN6D; PRO34002"
                     /note="upstream in-frame stop codon"
     CDS             204..1985
                     /gene="LINGO4"
                     /gene_synonym="DAAT9248; LRRN6D; PRO34002"
                     /note="leucine-rich repeat neuronal protein 6D;
                     leucine-rich repeat and immunoglobulin-like
                     domain-containing nogo receptor-interacting protein 4"
                     /codon_start=1
                     /product="leucine-rich repeat and immunoglobulin-like
                     domain-containing nogo receptor-interacting protein 4
                     precursor"
                     /protein_id="NP_001004432.1"
                     /db_xref="CCDS:CCDS30855.1"
                     /db_xref="GeneID:339398"
                     /db_xref="HGNC:HGNC:31814"
                     /db_xref="MIM:609794"
                     /translation="MDAATAPKQAWPPWPPLLFLLLLPGGSGGSCPAVCDCTSQPQAVL
                     CGHRQLEAVPGGLPLDTELLDLSGNRLWGLQQGMLSRLSLLQELDLSYNQLSTLEPGAF
                     HGLQSLLTLRLQGNRLRIMGPGVFSGLSALTLLDLRLNQIVLFLDGAFGELGSLQKLEV
                     GDNHLVFVAPGAFAGLAKLSTLTLERCNLSTVPGLALARLPALVALRLRELDIGRLPAG
                     ALRGLGQLKELEIHLWPSLEALDPGSLVGLNLSSLAITRCNLSSVPFQALYHLSFLRVL
                     DLSQNPISAIPARRLSPLVRLQELRLSGACLTSIAAHAFHGLTAFHLLDVADNALQTLE
                     ETAFPSPDKLVTLRLSGNPLTCDCRLLWLLRLRRHLDFGMSPPACAGPHHVQGKSLKEF
                     SDILPPGHFTCKPALIRKSGPRWVIAEEGGHAVFSCSGDGDPAPTVSWMRPHGAWLGRA
                     GRVRVLEDGTLEIRSVQLRDRGAYVCVVSNVAGNDSLRTWLEVIQVEPPNGTLSDPNIT
                     VPGIPGPFFLDSRGVAMVLAVGFLPFLTSVTLCFGLIALWSKGKGRVKHHMTFDFVAPR
                     PSGDKNSGGNRVTAKLF"
     sig_peptide     204..290
                     /gene="LINGO4"
                     /gene_synonym="DAAT9248; LRRN6D; PRO34002"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     polyA_site      2644
                     /gene="LINGO4"
                     /gene_synonym="DAAT9248; LRRN6D; PRO34002"
                     /note="major polyA site"
ORIGIN
        1 agtcttggca gcagcggccg cagcagcaac agcagcagca gcagcggcag gcagcagccg
       61 ggcagccagg cagcgggggt tgaggcacac agggaaggtg caggggcctg aggtgcagct
      121 cgaatgggac agggccccca gcgctggaca gatgcagtgc caaacttgat gccaccttcc
      181 agcttctccg gactgaagag ggaatggatg cagccacagc tccaaagcaa gcctggcccc
      241 catggccccc gctccttttc ctcctcctcc tacctggagg gagcggtggc agctgccctg
      301 ctgtgtgtga ctgcacctcc cagccccagg ctgtgctctg tggccacagg caactggagg
      361 ctgtacctgg aggactccca ctggacactg agctcctgga cctgagtggg aaccgcctgt
      421 gggggctcca gcagggaatg ctctcccgcc tgagcctgct ccaggaattg gacctcagct
      481 acaaccagct ctcaaccctt gagcctgggg ccttccatgg cctacaaagc ctactcaccc
      541 tgaggctgca gggcaatcgg ctcagaatca tggggcctgg ggtcttctca ggcctctctg
      601 ctctgaccct gctggacctc cgcctcaacc agattgttct cttcctagat ggagcttttg
      661 gggagctagg cagcctccag aagctggagg ttggggacaa ccacctggta tttgtggctc
      721 cgggggcctt tgcagggcta gccaagttga gcaccctcac cctggagcgc tgcaacctca
      781 gcacagtgcc tggcctagcc cttgcccgtc tcccggcact agtggcccta aggcttagag
      841 aactggatat tgggaggctg ccagctgggg ccctgcgggg gctggggcag ctcaaggagc
      901 tggagatcca cctctggcca tctctggagg ctctggaccc tgggagcctg gttgggctca
      961 atctcagcag cctggccatc actcgctgca atctgagctc ggtgcccttc caagcactgt
     1021 accacctcag cttcctcagg gtcctggatc tgtcccagaa tcccatctca gccatcccag
     1081 cccgaaggct cagccccctg gtgcggctcc aggagctacg cctgtcaggg gcatgcctca
     1141 cctccattgc tgcccatgcc ttccatggct tgactgcctt ccacctcctg gatgtggcag
     1201 ataacgccct tcagacacta gaggaaacag ctttcccttc tccagacaaa ctggtcacct
     1261 tgaggctgtc tggcaacccc ctaacctgtg actgccgcct cctctggctg ctccggctcc
     1321 gccgccacct ggactttggc atgtcccccc ctgcctgtgc tggcccccat catgtccagg
     1381 ggaagagcct gaaggagttt tcagacatcc tgcctccagg gcacttcacc tgcaaaccag
     1441 ccctgatccg aaagtcgggg cctcgatggg tcattgcaga ggagggcggg catgcggttt
     1501 tctcctgctc tggagatgga gacccagccc ccactgtctc ctggatgagg cctcatgggg
     1561 cttggctggg cagggctggg agagtaaggg tcctagagga tgggacactg gagatccgct
     1621 cagtgcagct acgggacaga ggggcctatg tctgtgtggt tagcaatgtc gctgggaatg
     1681 actccctgag gacctggctg gaagtcatcc aggtggaacc accaaacggc acactttctg
     1741 accccaacat caccgtgcca gggatcccag ggcctttttt tctggatagc agaggtgtgg
     1801 ccatggtgct ggcagtcggc ttcctcccct tcctcacctc agtgaccctc tgctttggcc
     1861 tgattgccct ttggagcaag ggcaaaggtc gggtcaaaca tcacatgacc tttgactttg
     1921 tggcacctcg gccctctggg gataaaaact ctgggggtaa ccgggtcact gccaagctct
     1981 tctgaccttt ccttccccag tggggaaccc accaagtccg cttcagatac caaaggggaa
     2041 gacagaacca aggctgcttg aaccagaacc tagtcccgag cagcaccgct ctcctgcacc
     2101 tcccgcctgc gttgtgcctc ctgccggaga gtctgcttcc tgagcttttc cggtctgagg
     2161 atagcattgt catttcttct ctgagggtcc cagggagctg cagatgcaga ccccgtcgtt
     2221 agtccagccc ctgcttcacc ccctccacac acaaaacagg aaacataatc aaagcgctag
     2281 tcagctagtc taaccactag gctttcttca cacatgctta tatcctttaa taaccaattg
     2341 ccaaccacgg ctataagatt atttcagagg tggggctggg aagtgccact tgctccttag
     2401 agtctgtttg tcaaccaggc agagtccctt tcttttctgc tccccacccc aaccctgccc
     2461 ctatgtacag gaataagagc aaaggaccca caggctacag agaagaggat ggggacagag
     2521 tgtgggatgg agaggacaga ccatatactg cactgtgttt gcatgagcct ctaccacctt
     2581 cctctatcta ccagatcatt aaacctgctg tcaaagggcc acaacagtag cagccaaaac
     2641 taaa
//
LOCUS       NM_001004434            3249 bp    mRNA    linear   PRI 16-JUN-2023
DEFINITION  Homo sapiens solute carrier family 30 member 2 (SLC30A2), transcript
            variant 1, mRNA.
ACCESSION   NM_001004434
VERSION     NM_001004434.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3249)
  AUTHORS   Escobar A, Styrpejko DJ, Ali S and Cuajungco MP.
  TITLE     Transmembrane 163 (TMEM163) protein interacts with specific
            mammalian SLC30 zinc efflux transporter family members
  JOURNAL   Biochem Biophys Rep 32, 101362 (2022)
   PUBMED   36204728
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3249)
  AUTHORS   Kelleher SL, Alam S, Rivera OC, Barber-Zucker S, Zarivach R,
            Wagatsuma T, Kambe T, Soybel DI, Wright J and Lamendella R.
  TITLE     Loss-of-function SLC30A2 mutants are associated with gut dysbiosis
            and alterations in intestinal gene expression in preterm infants
  JOURNAL   Gut Microbes 14 (1), 2014739 (2022)
   PUBMED   34965180
  REMARK    GeneRIF: Loss-of-function SLC30A2 mutants are associated with gut
            dysbiosis and alterations in intestinal gene expression in preterm
            infants.
REFERENCE   3  (bases 1 to 3249)
  AUTHORS   Rivera OC, Geddes DT, Barber-Zucker S, Zarivach R, Gagnon A, Soybel
            DI and Kelleher SL.
  TITLE     A common genetic variant in zinc transporter ZnT2 (Thr288Ser) is
            present in women with low milk volume and alters lysosome function
            and cell energetics
  JOURNAL   Am J Physiol Cell Physiol 318 (6), C1166-C1177 (2020)
   PUBMED   32320289
  REMARK    GeneRIF: Thr288Ser mutation in SLC30A2/ZnT2 impairs critical
            functions of mammary epithelial cells, resulting in milk volume and
            altering lysosome function and cell energetics.
REFERENCE   4  (bases 1 to 3249)
  AUTHORS   Li Z, Wang J, Yang Y and Wang S.
  TITLE     A novel homozygous mutation p.E88K in maternal SLC30A2 gene as a
            cause of transient neonatal zinc deficiency
  JOURNAL   Exp Dermatol 29 (6), 556-561 (2020)
   PUBMED   32278324
  REMARK    GeneRIF: A novel homozygous mutation p.E88K in maternal SLC30A2 gene
            as a cause of transient neonatal zinc deficiency.
REFERENCE   5  (bases 1 to 3249)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 3249)
  AUTHORS   Overbeck S, Uciechowski P, Ackland ML, Ford D and Rink L.
  TITLE     Intracellular zinc homeostasis in leukocyte subsets is regulated by
            different expression of zinc exporters ZnT-1 to ZnT-9
  JOURNAL   J Leukoc Biol 83 (2), 368-380 (2008)
   PUBMED   17971500
  REMARK    GeneRIF: hZnT-2 was not detectable in leukocytes.
REFERENCE   7  (bases 1 to 3249)
  AUTHORS   Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H,
            Elsasser HP, Mann M and Hasilik A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
REFERENCE   8  (bases 1 to 3249)
  AUTHORS   Falcon-Perez JM and Dell'Angelica EC.
  TITLE     Zinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect
            of adaptor protein 3-depleted fibroblasts by promoting zinc
            accumulation in lysosomes
  JOURNAL   Exp Cell Res 313 (7), 1473-1483 (2007)
   PUBMED   17349999
  REMARK    GeneRIF: ZnT2 can facilitate vesicular zinc accumulation
            independently of AP-3 function, and validate the M1 fibroblastoid
            line as a human cell culture system amenable to the study of
            vesicular zinc regulation.
REFERENCE   9  (bases 1 to 3249)
  AUTHORS   Chowanadisai W, Lonnerdal B and Kelleher SL.
  TITLE     Identification of a mutation in SLC30A2 (ZnT-2) in women with low
            milk zinc concentration that results in transient neonatal zinc
            deficiency
  JOURNAL   J Biol Chem 281 (51), 39699-39707 (2006)
   PUBMED   17065149
  REMARK    GeneRIF: a mutation in SLC30A2 (ZnT-2) may have a role in transient
            neonatal zinc deficiency
REFERENCE   10  (bases 1 to 3249)
  AUTHORS   Palmiter RD, Cole TB and Findley SD.
  TITLE     ZnT-2, a mammalian protein that confers resistance to zinc by
            facilitating vesicular sequestration
  JOURNAL   EMBO J 15 (8), 1784-1791 (1996)
   PUBMED   8617223
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF370409.1, ERR279833.8297.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968189, SAMEA1968540
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374276.4/ ENSP00000363394.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DR004258.1, AF370409.1,
            AL391650.18 and AI161067.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001004434.2.
            Summary: The protein encoded by this gene is a zinc transporter
            that acts as a homodimer. The encoded protein plays a role in
            secreting zinc into breast milk. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Aug 2015].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3249
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..3249
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="solute carrier family 30 member 2"
                     /db_xref="GeneID:7780"
                     /db_xref="HGNC:HGNC:11013"
                     /db_xref="MIM:609617"
     misc_feature    136..138
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="upstream in-frame stop codon"
     CDS             223..1341
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="isoform 1 is encoded by transcript variant 1; zinc
                     transporter 2; solute carrier family 30 (zinc transporter),
                     member 2; proton-coupled zinc antiporter SLC30A2"
                     /codon_start=1
                     /product="proton-coupled zinc antiporter SLC30A2 isoform 1"
                     /protein_id="NP_001004434.1"
                     /db_xref="CCDS:CCDS30644.1"
                     /db_xref="GeneID:7780"
                     /db_xref="HGNC:HGNC:11013"
                     /db_xref="MIM:609617"
                     /translation="MEAKEKQHLLDARPAIRSYTGSLWQEGAGWIPLPRPGLDLQAIEL
                     AAQSNHHCHAQKGPDSHCDPKKGKAQRQLYVASAICLLFMIGEVVGGYLAHSLAVMTDA
                     AHLLTDFASMLISLFSLWMSSRPATKTMNFGWQRAEILGALVSVLSIWVVTGVLVYLAV
                     ERLISGDYEIDGGTMLITSGCAVAVNIIMGLTLHQSGHGHSHGTTNQQEENPSVRAAFI
                     HVIGDFMQSMGVLVAAYILYFKPEYKYVDPICTFVFSILVLGTTLTILRDVILVLMEGT
                     PKGVDFTAVRDLLLSVEGVEALHSLHIWALTVAQPVLSVHIAIAQNTDAQAVLKTASSR
                     LQGKFHFHTVTIQIEDYSEDMKDCQACQGPSD"
     misc_feature    373..384
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BRI3.2);
                     Region: Mitochondrial localization signal.
                     /evidence=ECO:0000269|PubMed:21289295"
     misc_feature    643..705
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BRI3.2);
                     transmembrane region"
     misc_feature    748..810
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BRI3.2);
                     transmembrane region"
     misc_feature    883..945
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BRI3.2);
                     transmembrane region"
     misc_feature    970..1032
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BRI3.2);
                     transmembrane region"
     misc_feature    1102..1107
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BRI3.2);
                     Region: Lysosomal targeting motif.
                     /evidence=ECO:0000303|PubMed:25808614"
     misc_feature    1108..1110
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:25808614; propagated from
                     UniProtKB/Swiss-Prot (Q9BRI3.2); phosphorylation site"
     misc_feature    1135..1197
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BRI3.2);
                     transmembrane region"
     regulatory      2457..2462
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="hexamer: AACAAG"
     polyA_site      2479
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
                     /note="major polyA site"
     polyA_site      2678
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
     polyA_site      2708
                     /gene="SLC30A2"
                     /gene_synonym="PP12488; TNZD; ZnT-2; ZNT2"
ORIGIN
        1 gacccgagac acgggagcgc ttggcacgcg gagccagagc cggagctgca gccgcagcgg
       61 gagccggggg agctcagggg ccgcaggagc cgggccggag tgagcgcacc tcgcggggcc
      121 ctcggggcag gtgggtgagc gccacccgga gtcccgcgcg caactttcag ggcgcactcg
      181 gcggggcggc tgcgcggctg ccgggactcg gcgcgggact gcatggaggc caaggagaag
      241 cagcatctgt tggacgccag gccggcaatc cggtcataca cgggatctct gtggcaggaa
      301 ggggctggct ggattcctct gccccgacct ggcctggact tgcaggccat tgagctggct
      361 gcccagagca accatcactg ccatgctcag aagggtcctg acagtcactg tgaccccaag
      421 aaggggaagg cccagcgcca gctgtatgta gcctctgcca tctgcctgtt gttcatgatc
      481 ggagaagtcg ttggtgggta cctggcacac agcttggctg tcatgactga cgcagcacac
      541 ctgctcactg actttgccag catgctcatc agcctcttct ccctctggat gtcctcccgg
      601 ccagccacca agaccatgaa ctttggctgg cagagagctg agatcttggg agccctggtc
      661 tctgtactgt ccatctgggt cgtgacgggg gtactggtgt acctggctgt ggagcggctg
      721 atctctgggg actatgaaat tgacgggggg accatgctga tcacgtcggg ctgcgctgtg
      781 gctgtgaaca tcataatggg gttgaccctt caccagtctg gccatgggca cagccacggc
      841 accaccaacc agcaggagga gaaccccagc gtccgagctg ccttcatcca tgtgatcggc
      901 gactttatgc agagcatggg tgtcctagtg gcagcctata ttttatactt caagccagaa
      961 tacaagtatg tagaccccat ctgcaccttc gtcttctcca tcctggtcct ggggacaacc
     1021 ttgaccatcc tgagagatgt gatcctggtg ttgatggaag ggacccccaa gggcgttgac
     1081 ttcacagctg ttcgtgatct gctgctgtcg gtggaggggg tagaagccct gcacagcctg
     1141 catatctggg cactgacggt ggcccagcct gttctgtctg tccacatcgc cattgctcag
     1201 aatacagacg cccaggctgt gctgaagaca gccagcagcc gcctccaagg gaagttccac
     1261 ttccacaccg tgaccatcca gatcgaggac tactcggagg acatgaagga ctgtcaggca
     1321 tgccagggcc cctcagactg actgctcagc caggcaccaa ctggggcatg aacaggacct
     1381 gcaggtggct ggactgagtg tcccccaggc ccagccagga ctttgcctac cccagctgtg
     1441 ttgtaaacca ggtccccctc ctgacctctg ccccactcca ggaatggagc tcttcccagc
     1501 ctcccatctg actacagcca gggtggggac tcagcgggta taaagctagt gtgaccctgc
     1561 tcttccagct cctgggccag ctctggaagg gctgtatttg ggcctaatcc tcagcaaatg
     1621 ttctaccact cgcaggggca aaggtggtga gccacgggac gtccaagggg aggctggccc
     1681 cagcgcgccc atactgcctg cctcatgccc cattctcagc ctggctggcc tttgccttta
     1741 tgaatctgag cccctccatc tgcctatagc aataggcacg ggggtgagga ccctcacact
     1801 ctcatttgag cctccctgag gcagggagcc aggaggcacc tgaggcctat ctgtgcctta
     1861 gtcacttcag ctatgagcca aatgttccct ttcctggagg ggagaggctt cttactaggt
     1921 aagagacagg tttcctcttt ccttatttcc tcagctgtgc caacacaaaa aacaactttg
     1981 gcacaggtgg tgggcagggg gtagagagat ttcagcttgg gttctgcact aacagcctcc
     2041 aagccccctg gcacttctgt tgccctgaga gtgtcccagg ggattcagag tctccagaaa
     2101 gatatggctg ggccaactct gttgcctacc tggcctgacc cagtcggagc ctgacatggt
     2161 ggagggaaag ggagacaagt ggggctgcac tcggtccaga ggccagctag gagggaaacc
     2221 gcagcttcct ggggcttgtg tgtgaagatt cctgacttag gggtggcttt tgtttacaag
     2281 atgcaagagg ggaaacctgt ccccgactca tcgagacaac atgcccagtt atcagggagt
     2341 cctgtgtcac aaggtctgtc tctgccattg taagcaagtg ccttgggcga gctggcctct
     2401 gccccacagt ctcatctgta caccgacagg gttgatgcct ccctcacagg gttgagaaca
     2461 agagccagtt ggccaagtac ctgtggttgt tgaagattgg ttacttttac catcctgggg
     2521 acagggaact ctgtggcccg aggctgcctc actgaggagt caggtgggct tcccagcctc
     2581 cccaggggca gtgctgagtt tgtcttgact gttctggccc aaggtgggag gaggtgggtt
     2641 tggtcacttg cctcccactt taaatctctg tctttccatc tgtgaaatga cctctttgtg
     2701 ccttcccagc actgtcatcc tgatcgcctg tgttctaggt aggtgggtcc ttcagcccct
     2761 ccaggtctgt gaaaagtctg tggaaagcac tggcctggag aggggtgggg ggttgctggt
     2821 gggtgctcca ttccaccaca atctcagggg actcaacctc ccctacccaa ctccccaccc
     2881 ccacccaagc catggcaggc cccaggaact tgatcctggg ctttgccgta tgccaagtcc
     2941 ttacacccct ctcaagagac agtcattggc tgggcacggt ggctcatgcc tgcaatccca
     3001 gcaccttggg aggctgaggc aggcagatga cttgaggcca ggagttcgag accagcctgg
     3061 ccaatatggc gaaacctcat ttctactaaa aatacaaaaa ctagccaggc gtggtggctt
     3121 gtgcctgtaa tcccagctac tcgggaggct gaggcaggag aatcgcttga accggggagg
     3181 cagaggttgc agtgagctga gatcacacca ctgcactcca gcctgggtga cagagcgaga
     3241 ctccagctt
//
LOCUS       NM_001004439           10191 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens integrin subunit alpha 11 (ITGA11), mRNA.
ACCESSION   NM_001004439
VERSION     NM_001004439.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10191)
  AUTHORS   Ainiwaer J, Zhang L, Niyazi M, Awut E, Zheng S, Sheyhidin I and Dai
            J.
  TITLE     Alpha Protein Kinase 2 Promotes Esophageal Cancer via Integrin Alpha
            11
  JOURNAL   Biomed Res Int 2022, 7676582 (2022)
   PUBMED   35813220
  REMARK    GeneRIF: Alpha Protein Kinase 2 Promotes Esophageal Cancer via
            Integrin Alpha 11. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 10191)
  AUTHORS   Zhang H, Zhang L and Lu M.
  TITLE     Inhibition of integrin subunit alpha 11 restrains gastric cancer
            progression through phosphatidylinositol 3-kinase/Akt pathway
  JOURNAL   Bioengineered 12 (2), 11909-11921 (2021)
   PUBMED   34802381
  REMARK    GeneRIF: Inhibition of integrin subunit alpha 11 restrains gastric
            cancer progression through phosphatidylinositol 3-kinase/Akt
            pathway.
REFERENCE   3  (bases 1 to 10191)
  AUTHORS   Iwai M, Tulafu M, Togo S, Kawaji H, Kadoya K, Namba Y, Jin J,
            Watanabe J, Okabe T, Hidayat M, Sumiyoshi I, Itoh M, Koyama Y, Ito
            Y, Orimo A, Takamochi K, Oh S, Suzuki K, Hayashizaki Y, Yoshida K
            and Takahashi K.
  TITLE     Cancer-associated fibroblast migration in non-small cell lung
            cancers is modulated by increased integrin alpha11 expression
  JOURNAL   Mol Oncol 15 (5), 1507-1527 (2021)
   PUBMED   33682233
  REMARK    GeneRIF: Cancer-associated fibroblast migration in non-small cell
            lung cancers is modulated by increased integrin alpha11 expression.
REFERENCE   4  (bases 1 to 10191)
  AUTHORS   Song H, Li H, Ding X, Li M, Shen H, Li Y, Zhang X and Xing L.
  TITLE     Long non-coding RNA FEZF1-AS1 facilitates non-small cell lung cancer
            progression via the ITGA11/miR-516b-5p axis
  JOURNAL   Int J Oncol 57 (6), 1333-1347 (2020)
   PUBMED   33174014
  REMARK    GeneRIF: Long noncoding RNA FEZF1AS1 facilitates nonsmall cell lung
            cancer progression via the ITGA11/miR516b5p axis.
REFERENCE   5  (bases 1 to 10191)
  AUTHORS   Li J, Zhao M, Wang Y, Shen M, Wang S, Tang M, Li M, Luo Y, Yang K
            and Wen X.
  TITLE     p75NTR optimizes the osteogenic potential of human periodontal
            ligament stem cells by up-regulating alpha1 integrin expression
  JOURNAL   J Cell Mol Med 24 (13), 7563-7575 (2020)
   PUBMED   32424966
  REMARK    GeneRIF: p75NTR optimizes the osteogenic potential of human
            periodontal ligament stem cells by up-regulating alpha1 integrin
            expression.
REFERENCE   6  (bases 1 to 10191)
  AUTHORS   Zhang WM, Popova SN, Bergman C, Velling T, Gullberg MK and Gullberg
            D.
  TITLE     Analysis of the human integrin alpha11 gene (ITGA11) and its
            promoter
  JOURNAL   Matrix Biol 21 (6), 513-523 (2002)
   PUBMED   12392762
  REMARK    GeneRIF: Major transcription start site mapped. A core promoter [nt
            (-)127-(+)25], a potential silencer region [nt (-)400-(-)127] and a
            potential enhancer region [nt (-)1519-(-)400] identified as
            important for alpha11 transcription in mesenchymal cells.
REFERENCE   7  (bases 1 to 10191)
  AUTHORS   Tiger CF, Fougerousse F, Grundstrom G, Velling T and Gullberg D.
  TITLE     alpha11beta1 integrin is a receptor for interstitial collagens
            involved in cell migration and collagen reorganization on
            mesenchymal nonmuscle cells
  JOURNAL   Dev Biol 237 (1), 116-129 (2001)
   PUBMED   11518510
REFERENCE   8  (bases 1 to 10191)
  AUTHORS   Velling T, Kusche-Gullberg M, Sejersen T and Gullberg D.
  TITLE     cDNA cloning and chromosomal localization of human alpha(11)
            integrin. A collagen-binding, I domain-containing,
            beta(1)-associated integrin alpha-chain present in muscle tissues
  JOURNAL   J Biol Chem 274 (36), 25735-25742 (1999)
   PUBMED   10464311
REFERENCE   9  (bases 1 to 10191)
  AUTHORS   Lehnert K, Ni J, Leung E, Gough SM, Weaver A, Yao WP, Liu D, Wang
            SX, Morris CM and Krissansen GW.
  TITLE     Cloning, sequence analysis, and chromosomal localization of the
            novel human integrin alpha11 subunit (ITGA11)
  JOURNAL   Genomics 60 (2), 179-187 (1999)
   PUBMED   10486209
REFERENCE   10  (bases 1 to 10191)
  AUTHORS   Genini M, Schwalbe P, Scholl FA and Schafer BW.
  TITLE     Isolation of genes differentially expressed in human primary
            myoblasts and embryonal rhabdomyosarcoma
  JOURNAL   Int J Cancer 66 (4), 571-577 (1996)
   PUBMED   8635876
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2578651.1, AK292445.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000315757.9/ ENSP00000327290.7
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC100825.2, AF137378.2,
            AK095863.1, AF109681.1, BX496541.1, CN358985.1, AL359064.1 and
            AC021553.14.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001004439.1.
            Summary: This gene encodes an alpha integrin. Integrins are
            heterodimeric integral membrane proteins composed of an alpha chain
            and a beta chain. This protein contains an I domain, is expressed
            in muscle tissue, dimerizes with beta 1 integrin in vitro, and
            appears to bind collagen in this form. Therefore, the protein may
            be involved in attaching muscle tissue to the extracellular matrix.
            Alternative transcriptional splice variants have been found for
            this gene, but their biological validity is not determined.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..10191
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q23"
     gene            1..10191
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="integrin subunit alpha 11"
                     /db_xref="GeneID:22801"
                     /db_xref="HGNC:HGNC:6136"
                     /db_xref="MIM:604789"
     CDS             98..3664
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="integrin alpha-11"
                     /codon_start=1
                     /product="integrin alpha-11 precursor"
                     /protein_id="NP_001004439.1"
                     /db_xref="CCDS:CCDS45291.1"
                     /db_xref="GeneID:22801"
                     /db_xref="HGNC:HGNC:6136"
                     /db_xref="MIM:604789"
                     /translation="MDLPRGLVVAWALSLWPGFTDTFNMDTRKPRVIPGSRTAFFGYTV
                     QQHDISGNKWLVVGAPLETNGYQKTGDVYKCPVIHGNCTKLNLGRVTLSNVSERKDNMR
                     LGLSLATNPKDNSFLACSPLWSHECGSSYYTTGMCSRVNSNFRFSKTVAPALQRCQTYM
                     DIVIVLDGSNSIYPWVEVQHFLINILKKFYIGPGQIQVGVVQYGEDVVHEFHLNDYRSV
                     KDVVEAASHIEQRGGTETRTAFGIEFARSEAFQKGGRKGAKKVMIVITDGESHDSPDLE
                     KVIQQSERDNVTRYAVAVLGYYNRRGINPETFLNEIKYIASDPDDKHFFNVTDEAALKD
                     IVDALGDRIFSLEGTNKNETSFGLEMSQTGFSSHVVEDGVLLGAVGAYDWNGAVLKETS
                     AGKVIPLRESYLKEFPEELKNHGAYLGYTVTSVVSSRQGRVYVAGAPRFNHTGKVILFT
                     MHNNRSLTIHQAMRGQQIGSYFGSEITSVDIDGDGVTDVLLVGAPMYFNEGRERGKVYV
                     YELRQNLFVYNGTLKDSHSYQNARFGSSIASVRDLNQDSYNDVVVGAPLEDNHAGAIYI
                     FHGFRGSILKTPKQRITASELATGLQYFGCSIHGQLDLNEDGLIDLAVGALGNAVILWS
                     RPVVQINASLHFEPSKINIFHRDCKRSGRDATCLAAFLCFTPIFLAPHFQTTTVGIRYN
                     ATMDERRYTPRAHLDEGGDRFTNRAVLLSSGQELCERINFHVLDTADYVKPVTFSVEYS
                     LEDPDHGPMLDDGWPTTLRVSVPFWNGCNEDEHCVPDLVLDARSDLPTAMEYCQRVLRK
                     PAQDCSAYTLSFDTTVFIIESTRQRVAVEATLENRGENAYSTVLNISQSANLQFASLIQ
                     KEDSDGSIECVNEERRLQKQVCNVSYPFFRAKAKVAFRLDFEFSKSIFLHHLEIELAAG
                     SDSNERDSTKEDNVAPLRFHLKYEADVLFTRSSSLSHYEVKPNSSLERYDGIGPPFSCI
                     FRIQNLGLFPIHGMMMKITIPIATRSGNRLLKLRDFLTDEANTSCNIWGNSTEYRPTPV
                     EEDLRRAPQLNHSNSDVVSINCNIRLVPNQEINFHLLGNLWLRSLKALKYKSMKIMVNA
                     ALQRQFHSPFIFREEDPSRQIVFEISKQEDWQVPIWIIVGSTLGGLLLLALLVLALWKL
                     GFFRSARRRREPGLDPTPKVLE"
     sig_peptide     98..163
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     164..3661
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /product="integrin alpha-11"
     misc_feature    167..352
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKX5.2);
                     Region: FG-GAP 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    341..343
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UKX5.2); glycosylation site"
     misc_feature    368..550
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKX5.2);
                     Region: FG-GAP 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    380..382
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UKX5.2); glycosylation site"
     misc_feature    968..970
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UKX5.2); glycosylation site"
     misc_feature    1088..1090
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q9UKX5.2); glycosylation site"
     misc_feature    1160..1315
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKX5.2);
                     Region: FG-GAP 3.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1169..1171
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UKX5.2); glycosylation site"
     misc_feature    1328..1480
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKX5.2);
                     Region: FG-GAP 4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1442..1444
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UKX5.2); glycosylation site"
     misc_feature    1481..1678
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKX5.2);
                     Region: FG-GAP 5.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1481..1483
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UKX5.2); glycosylation site"
     misc_feature    1679..1855
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKX5.2);
                     Region: FG-GAP 6.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    1679..1681
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UKX5.2); glycosylation site"
     misc_feature    1865..2047
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKX5.2);
                     Region: FG-GAP 7.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00803"
     misc_feature    2021..2023
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UKX5.2); glycosylation site"
     misc_feature    2177..2179
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UKX5.2); glycosylation site"
     misc_feature    2666..2668
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UKX5.2); glycosylation site"
     misc_feature    2777..2779
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UKX5.2); glycosylation site"
     misc_feature    3014..3016
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UKX5.2); glycosylation site"
     misc_feature    3188..3190
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UKX5.2); glycosylation site"
     misc_feature    3212..3214
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UKX5.2); glycosylation site"
     misc_feature    3272..3274
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UKX5.2); glycosylation site"
     misc_feature    3521..3589
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UKX5.2);
                     transmembrane region"
     regulatory      4753..4758
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="hexamer: AATAAA"
     polyA_site      4779
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="major polyA site"
     regulatory      5000..5005
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="hexamer: AATACA"
     polyA_site      5019
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="major polyA site"
     polyA_site      5458
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="major polyA site"
     regulatory      5627..5632
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="hexamer: ACTAAA"
     polyA_site      5647
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
     regulatory      6580..6585
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="hexamer: ATTAAA"
     polyA_site      6600
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
     regulatory      7909..7914
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="hexamer: ATTAAA"
     polyA_site      7929
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
     regulatory      10168..10173
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
                     /note="hexamer: AATAAA"
     polyA_site      10191
                     /gene="ITGA11"
                     /gene_synonym="HsT18964"
ORIGIN
        1 agtgcaggct gcaggcgccg cgccgaggag gctgccgctc tggcttgccg ccccccgccg
       61 ccgctgcaca ccggacccag ccgccgtgcc gcgggccatg gacctgccca ggggcctggt
      121 ggtggcctgg gcgctcagcc tgtggccagg gttcacggac accttcaaca tggacaccag
      181 gaagccccgg gtcatccctg gctccaggac cgccttcttt ggctacacag tgcagcagca
      241 cgacatcagt ggcaataagt ggctggtcgt gggcgcccca ctggaaacca atggctacca
      301 gaagacggga gacgtgtaca agtgtccagt gatccacggg aactgcacca aactcaacct
      361 gggaagggtc accctgtcca acgtgtccga gcggaaagac aacatgcgcc tcggccttag
      421 tctcgccacc aaccccaagg acaacagctt cctggcctgc agccccctct ggtctcatga
      481 gtgtgggagc tcctactaca ccacagggat gtgttcaaga gtcaactcca acttcaggtt
      541 ctccaagacc gtggccccag ctctccaaag gtgccagacc tacatggaca tcgtcattgt
      601 cctggatggc tccaacagca tctacccctg ggtggaggtt cagcacttcc tcatcaacat
      661 cctgaaaaag ttttacattg gcccagggca gatccaggtt ggagttgtgc agtatggcga
      721 agatgtggtg catgagtttc acctcaacga ctacaggtct gtaaaagatg tggtggaagc
      781 tgccagccac attgagcaga gaggaggaac agagacccgg acggcatttg gcattgaatt
      841 tgcacgctca gaggctttcc agaagggtgg aaggaaagga gccaagaagg tgatgattgt
      901 catcacagat ggggagtccc acgacagccc agacctggag aaggtgatcc agcaaagcga
      961 aagagacaac gtaacaagat atgcggtggc cgtcctgggc tactacaacc gcagggggat
     1021 caatccagaa acttttctaa atgaaatcaa atacatcgcc agtgaccctg atgacaagca
     1081 cttcttcaat gtcactgatg aggctgcctt gaaggacatt gtcgatgccc tgggggacag
     1141 aatcttcagc ctggaaggca ccaacaagaa cgagacctcc tttgggctgg agatgtcaca
     1201 gacgggcttt tcctcgcacg tggtggagga tggggttctg ctgggagccg tcggtgccta
     1261 tgactggaat ggagctgtgc taaaggagac gagtgccggg aaggtcattc ctctccgcga
     1321 gtcctacctg aaagagttcc ccgaggagct caagaaccat ggtgcatacc tggggtacac
     1381 agtcacatcg gtcgtgtcct ccaggcaggg gcgggtgtac gtggccggag ccccccggtt
     1441 caaccacacg ggcaaggtca tcctgttcac catgcacaac aaccggagcc tcaccatcca
     1501 ccaggctatg cggggccagc agataggctc ttactttggg agtgaaatca cctcggtgga
     1561 catcgacggc gacggcgtga ctgatgtcct gctggtgggc gcacccatgt acttcaacga
     1621 gggccgtgag cgaggcaagg tgtacgtcta tgagctgaga cagaacctgt ttgtttataa
     1681 cggaacgcta aaggattcac acagttacca gaatgcccga tttgggtcct ccattgcctc
     1741 agttcgagac ctcaaccagg attcctacaa tgacgtggtg gtgggagccc ccctggagga
     1801 caaccacgca ggagccatct acatcttcca cggcttccga ggcagcatcc tgaagacacc
     1861 taagcagaga atcacagcct cagagctggc taccggcctc cagtattttg gctgcagcat
     1921 ccacgggcaa ttggacctca atgaggatgg gctcatcgac ctggcagtgg gagcccttgg
     1981 caacgctgtg attctgtggt cccgcccagt ggttcagatc aatgccagcc tccactttga
     2041 gccatccaag atcaacatct tccacagaga ctgcaagcgc agtggcaggg atgccacctg
     2101 cctggccgcc ttcctctgct tcacgcccat cttcctggca ccccatttcc aaacaacaac
     2161 tgttggcatc agatacaacg ccaccatgga tgagaggcgg tatacaccga gggcccacct
     2221 ggacgagggc ggggaccgat tcaccaacag agccgtactg ctctcctccg gccaggagct
     2281 ctgtgagcgg atcaacttcc atgtcctgga cactgctgac tacgtgaagc cagtgacctt
     2341 ctcagtcgag tattccctgg aggaccctga ccatggcccc atgctggacg acggctggcc
     2401 caccactctc agagtctcgg tgcccttctg gaacggctgc aatgaggatg agcactgtgt
     2461 ccctgacctt gtgttggatg cccggagtga cctgcccacg gccatggagt actgccagag
     2521 ggtgctgagg aagcctgcgc aggactgctc cgcatacacg ctgtccttcg acaccacagt
     2581 cttcatcata gagagcacac gccagcgagt ggcggtggag gccacactgg agaacagggg
     2641 cgagaacgcc tacagcacgg tcctaaatat ctcgcagtca gcaaacctgc agtttgccag
     2701 cttgatccag aaggaggact cagacggtag cattgagtgt gtgaacgagg agaggaggct
     2761 ccagaagcaa gtctgcaacg tcagctatcc cttcttccgg gccaaggcca aggtggcttt
     2821 ccgtcttgat tttgagttca gcaaatccat cttcctacac cacctggaga tcgagctcgc
     2881 tgcaggcagt gacagtaatg agcgggacag caccaaggaa gacaacgtgg cccccttacg
     2941 cttccacctc aaatacgagg ctgacgtcct cttcaccagg agcagcagcc tgagccacta
     3001 cgaggtcaag cccaacagct cgctggagag atacgatggt atcgggcctc ccttcagctg
     3061 catcttcagg atccagaact tgggcttgtt ccccatccac gggatgatga tgaagatcac
     3121 cattcccatc gccaccagga gcggcaaccg cctactgaag ctgagggact tcctcacgga
     3181 cgaggcgaac acgtcctgta acatctgggg caatagcact gagtaccggc ccaccccagt
     3241 ggaggaagac ttgcgtcgtg ctccacagct gaatcacagc aactctgatg tcgtctccat
     3301 caactgcaat atacggctgg tccccaacca ggaaatcaat ttccatctac tggggaacct
     3361 gtggttgagg tccctaaaag cactcaagta caaatccatg aaaatcatgg tcaacgcagc
     3421 cttgcagagg cagttccaca gccccttcat cttccgtgag gaggatccca gccgccagat
     3481 cgtgtttgag atctccaagc aagaggactg gcaggtcccc atctggatca ttgtaggcag
     3541 caccctgggg ggcctcctac tgctggccct gctggtcctg gcactgtgga agctcggctt
     3601 ctttagaagt gccaggcgca ggagggagcc tggtctggac cccaccccca aagtgctgga
     3661 gtgaggctcc agaggagact ttgagttgat gggggccagg acaccagtcc aggtagtgtt
     3721 gagacccagg cctgtggccc caccgagctg gagcggagag gaagccagct ggctttgcac
     3781 ttgacctcat ctcccgagca atggcgcctg ctccctccag aatggaactc aagctggttt
     3841 taagtggaac tgccctactg ggagactggg acacctttaa cacagacccc tagggattta
     3901 aagggacacc cctacacaca cccaggccca tgccaaggcc tccctcaggc tctgtggagg
     3961 gcatttgctg ccccagctac taaggtgcta ggaattcgta atcatcccca tcctccagag
     4021 aaacccaggg aggaagactg taaatacgaa cccaatctgc acactccagg cctctagttc
     4081 cagaaggatc caagacaaaa cagatctgaa ttctgccctt ttctctcacc catcccaccc
     4141 ctccattggc tcccaagtca cacccactcc cttccccata gataggcccc tggggctccc
     4201 gaagaatgaa cccaagagca agggcttgat ggtgacagct gcaagccagg gatgaagaaa
     4261 gactctgaga tgtggagact gatggccagg caagtgggac caggatactg gacgctgtcc
     4321 tgagatgaga ggtagccggg ctctgcaccc acgtgcattc acattgaccg caactcacac
     4381 attcccccac cagctgcagc cccttgctct cagctgccaa ccctcccggg tcacttttgt
     4441 tcccaggtac ctcatgggaa gcatgtggat gacacaatcc ctggggctgt gcattcccac
     4501 gtcttcttgc tgcagcctgc ccctagacat ggacgcaccg gcctggctgc agctgggcag
     4561 caggggtagg ggtagggagc ctcccctccc tgtatcaccc cctccctaca cacacacaca
     4621 cacacacaca cacacacaca cacacacaca cacacacaca cacacactgc ctcccatcct
     4681 tccctcatgc ccgccagtgc acagggaagg gcttggccag cgctgttgag gggtcccctc
     4741 tggaatgcac tgaataaagc acgtgcaagg actcccggag cctgtgcagc cttggtggca
     4801 aatatctcat ctgccggccc ccaggacaag tggtatgacc agtgataatg ccccaaggac
     4861 aaggggcgtg cctggcgccc agtggagtaa tttatgcctt agtcttgttt tgaggtagaa
     4921 atgcaagggg gacacatgaa aggcatcagt ccccctgtgc atagtacgac ctttactgtc
     4981 gtatttttga aaaattaaaa atacagtgtt taaaaacaac caagcactga catcccattc
     5041 tgtgggcaga gcatatcaca gtgagccata ctcccctttg aaggagagga agtagaatga
     5101 gggagttcct tgcttcctcc cccctacctc tacatgtcag aagggactca tccaccattt
     5161 gctgcccaca acatgccctc ctagtggctg cctggcctcc gtgtgacgtc tccagtggtg
     5221 gagcgctccc tctcccaaga tcacccttcc atctatggcc agtgtggacg gttaggacct
     5281 aaatgtttca ctgtagcttc tgcccttggt tccagctctt ccctctcacg cctcccagac
     5341 ttctccaggc cggtttcatt gttaaccgtc ttacactctg acatcagcca aggcgtctcc
     5401 attctgttct tgtgccattc atgtcttgga ttcccagtaa gtagaacctt ggaaataatt
     5461 tgatcttgtt tttgcataaa tgaggacact cagaaccagg aagagcccta ggctcccaca
     5521 gcaaaaccaa aactaaaccc aggactgcta tttcccaagc cagattctgt tattcgagcc
     5581 cagccttaga agggcttgat gtggagcaaa aggtgaaaat ggtgaaacta aaatttgagt
     5641 atcaaaaccc attgccttct aatagaatca gaaggaaatg ttgctaaatc atattccatt
     5701 tccgtcatca ctcttatgaa tggggtaacc tggctaaatg agaattaatg aacccacact
     5761 cataagtttt cattgactta gcaccaagtc gtccatcaaa tatcatcaga tctgagaatg
     5821 ctcttatgga tatctgattt ttagaggctg gcattcatat ttttaaaaac tgccacctgt
     5881 gaccacactg caggccaaac agaatgtacc tgctggtcag atgcagccca gaggtcactg
     5941 aattgcaacc tctggactct cggtcagagg caagcagccc ttattccaga actccacagt
     6001 ccttcacacc cttccccaga cctacaccaa gaccaactaa gtggtcaaaa ggtggacaaa
     6061 ctgagagttg tatcaaggcc cttagcctct caatttgtta tcaagtttcc ctttctgaat
     6121 ctatttaccc tgaagtataa atacccaaga tgagccttaa gagtgcctgg tagagcaaac
     6181 aaagatgcat cttataggga gcaaagtcta tgctaacgca gtgtttctca atcctggctg
     6241 cacctttgaa ccacgggagc tttaaaagtg accactgcaa gggccctacc cactatggat
     6301 cccaatttca ttggttggga gaggggccaa gtttgtttcc aacttcccca gatgactcta
     6361 atggctgaga gttgcaatca acaggtaagt gaatatccag gctgtaagat gaagaaagag
     6421 ggggttgtgc ccaagcccac tgtgcctcat aaagcagatg atctctgcag cgctgcgctt
     6481 ctcaaagagt ggtcccagga ctgcctcagt cagaccacag actcctaagt tcctcctcag
     6541 acttcatgga tccaagctct gtgaggtaat tctaagcaca ttaaacttgt agaacagcca
     6601 tctggattta atattacata atagctataa tattctgcta ttctctaatc ttcaatgtca
     6661 gtttcttaaa ctgtcaggcc tgtctttaga tgcccttcaa ctgtgctggg gactatcttg
     6721 atggcagcca gcaaagaaaa tcagcaaaaa ccccagtgga gtttctgggt tttacttttg
     6781 ttaaggaagg tgatggtttc ttgacatgac aggtatctag gtggaaaggg caaagtgcta
     6841 atgcaaacac aatggagaca ctatggaata gctctgccta gggacatgtg gaagagcttc
     6901 taggagacag tgtggacctt tccatcccta gaggtcttca caagataaat tcctacctcc
     6961 gtcagtattc aaaaggtttt agcatcaata ctgtctgaga ataagacatt agacttgagt
     7021 cagtcccctg gcttcaatcc caggatgcca agcagcctct aatggagacc gctggcttaa
     7081 tcgtgctcct ttcctggcat aacaactcac tgcacccatg cctcaccacc acgaagcagt
     7141 ctcctcacca cccaaatgtg ccttgggtga cttaaataca gccattagta tgaatggtcc
     7201 cctgttttta ttcaacacca caccagtctt tgcttttacc ttcggctaat gtggttccag
     7261 ccttttatcc tgcactcctt cttataattt aaaaaaaaaa aaaactcccc tactatcttt
     7321 atgttaatat taacatcaac taggttcttc tcaaaggaca gccaggccta actggccacg
     7381 ttaaaatctg cacagtgctt ttgtgtcact gtctattcta ttagtttcaa catcatgcta
     7441 aaataggaca gcatgttcca aaactgaaac tgaaacagga acggagcctt gctgatttag
     7501 catgaggagg gaattgtaag ccttgcacct ggacactaaa acttttcaat aagatgtatg
     7561 ctaagccgta cctagcaaac ttaccaggtc caaagtagag tacaagcaga aagttatttt
     7621 taaaggatgg gcactatcct tgagggactt accctttcta atcagctttg catggtttgt
     7681 tttgagacag tgtctcactc tgttgcccag gctagagtgc agcggcacca tcacagctca
     7741 cggcagcctc tgcctcccgg gctcaagcaa tcccacctca gtttcccaag tagctgggac
     7801 tacaggcaca caccacactc agctaatttt agtatttttt gtagagacag ggtctcgcca
     7861 tgttgcccag gctggtctca aactcctgga ttatctccct ggccctgcat taaaaaagat
     7921 gtgcaacaac ttagtgatgt gtctgaaatg ttttcagaag gtggcccaag tcagagtcaa
     7981 aaaatttttt tatttggaaa attagaggaa atacagaaaa tcaaatttca aatagatgca
     8041 tctaaatgga gaacaagctt atcaaggaca gagtccatct ttcttatttt tatttttgag
     8101 acagggtctt gctctgtcac ccaggctaga gtgcagcggc acaatcacag ctccctgcag
     8161 cctcgacctc ctggacttca gtgatcctcc cacctcagcc tcttgagtag ctgggactac
     8221 agacatgcac caccatgccc agctaatttt ttttttaatt ttgtgcagag agggggtctc
     8281 actttgttgc ccacactggt ctctcttatt tttgtatgca tatctgtggt gcagtgcctg
     8341 aaatacagta ggtgttcaat aagcgccaac atgcaagagt atcttgccat tgattaaggc
     8401 aaaagcaaaa ccccagtccg cccctctgat ggactgagca caccaaattt ctaaagcaca
     8461 ggcaaattag aaaatataat tttgtctaaa cttgccaaca agctaaggtt ttgtgaacca
     8521 cctaaaattt gcctctctca tactgaaatt ttctaggtca agtatctgaa ggaatacact
     8581 actgccagta ttttctttgg tgatctgtca tatacagcag acattacttg aaacaaagaa
     8641 aaaaatgttt taaaacctgt ctggatgatt tccgcagtct cactaggtta ttgcagccag
     8701 ggagtgacct agcagagatc tgaaggtgag cttccctagt actggcatct cacagtgaaa
     8761 gagcactgtt cagtgggtca agagacccag agcctactct cagttacgac acacatagtc
     8821 cttgtgtggc ctttctgggc ttgtgtcctg aactataaaa tgagagggtg gcactaaatg
     8881 tttttttcag atctctatag aggctggaat ggccacagag aatctaaatt tgaaaacaaa
     8941 catgtcctga gggtgtgctc caataccacc ctttaatact ctcctgagat gtgaaggctg
     9001 gaaatgagaa tgccatatta ttgttacttg caaacgatta gtgtatctgg gacatccaaa
     9061 agaagtaact gaaaatttat ttctttaaaa acaaaaaaaa ccattacagt gcttttgtaa
     9121 aaacattaat atttagaagt acgtagtggt aataaaagga aaatagttgt aagaccttca
     9181 ttaaaaagaa aaacctaaaa aaaaaaacaa aacaaaactc tggatacagg tgtatgattt
     9241 acctaaccag acatagcttt cttttggata aaaaaaaaaa aaaaaaaaaa gctcagaagt
     9301 gcagaactgt acagatgtcc ctaaatctat taattcaatg ctaaacgaaa taatctctta
     9361 acatgataaa attacaccaa acttcatctg gaaaaataaa cacgtaataa tgaaaaaagt
     9421 tagccactcc cacctcccca cttaaaaaag acaaatgaag aaatactagt ccaaggccag
     9481 gtgtggtggc tcacatctgt aatcccaaca ctttgagagg ctgaggtggg aggactgctt
     9541 gaacccagga gttcaagacc agcctaggca tcatggcaaa accccatctc tacaaaaaat
     9601 accaaaataa aaagaattag ctgggcatgg tggcacatac ctgtagtccc agctacttgg
     9661 gaggctgagg tgagaggatc acttgagccc ggaagatcaa ggcgacagta agccatgatg
     9721 gcaccactgc actccagcct gggtgacaga atgaaaccct gtctcaaaaa acaaacaaac
     9781 aaaaaccaaa caaattatag gaaaatcaac attttaaacc aaagaagaga aggagaaaga
     9841 agggaaggga agccataaaa gtgtcttttt caaatagatc atgggggaaa aaaaaaaaaa
     9901 gtatgacttg gaatagagac agccttacaa gcaggatcta aaactcagaa tccatttttt
     9961 taaattgtga taaatttgac tatagaaaaa tgtaaacttt ggatacaaaa gtaccatatt
    10021 taaagtaaat aagctacaac tattacatga cagagaaaat gtcctcaaac ttctaaggaa
    10081 cttctaacaa gtagaaaaaa aacacacaca accccaaagc aaacaccaat agtcaataaa
    10141 tatatgaaag tgttcaatgt tactcataat aaaggcatac aaatcaaacc a
//
LOCUS       NM_001004441            3730 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.
ACCESSION   NM_001004441
VERSION     NM_001004441.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3730)
  AUTHORS   Serth J, Peters I, Hill B, Hubscher T, Hennenlotter J, Klintschar M
            and Kuczyk MA.
  TITLE     Age-Related DNA Methylation in Normal Kidney Tissue Identifies
            Epigenetic Cancer Risk Susceptibility Loci in the ANKRD34B and ZIC1
            Genes
  JOURNAL   Int J Mol Sci 23 (10), 5327 (2022)
   PUBMED   35628134
  REMARK    GeneRIF: Age-Related DNA Methylation in Normal Kidney Tissue
            Identifies Epigenetic Cancer Risk Susceptibility Loci in the
            ANKRD34B and ZIC1 Genes. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3730)
  AUTHORS   Al-Shaibi N and Ghosh SK.
  TITLE     A novel phosphoprotein is induced during bone marrow commitment to
            dendritic cells
  JOURNAL   Biochem Biophys Res Commun 321 (1), 26-30 (2004)
   PUBMED   15358210
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CR749535.1, BC137441.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000338682.8/ ENSP00000339802.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008434.5, BC137441.1 and CR749535.1.
            On Nov 22, 2018 this sequence version replaced NM_001004441.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3730
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     gene            1..3730
                     /gene="ANKRD34B"
                     /gene_synonym="DP58"
                     /note="ankyrin repeat domain 34B"
                     /db_xref="GeneID:340120"
                     /db_xref="HGNC:HGNC:33736"
                     /db_xref="MIM:618581"
     misc_feature    454..456
                     /gene="ANKRD34B"
                     /gene_synonym="DP58"
                     /note="upstream in-frame stop codon"
     CDS             466..2010
                     /gene="ANKRD34B"
                     /gene_synonym="DP58"
                     /note="dendritic phosphoprotein 58 kDa; cytosolic
                     phosphoprotein DP58"
                     /codon_start=1
                     /product="ankyrin repeat domain-containing protein 34B"
                     /protein_id="NP_001004441.2"
                     /db_xref="CCDS:CCDS34194.1"
                     /db_xref="GeneID:340120"
                     /db_xref="HGNC:HGNC:33736"
                     /db_xref="MIM:618581"
                     /translation="MDEGMEISSEGNSLIKAVHQSRLRLTRLLLEGGAYINESNDRGET
                     PLMIACKTKHVDHQSVSKAKMVKYLLENNADPNIQDKSGKTALMHACLEKAGPEVVSLL
                     LKSGADLSLQDHSSYSALVYAINSEDTETLKVLLSACKAKGKEVIIITTAKLPCGKHTT
                     KQYLNMPPVDIDGCHSPATCTTPSEIDIKTASSPLSHSSETELTLFGFKDLELAGSNDD
                     TWDPGSPVRKPALAPKGPKLPHAPPWVKSPPLLMHQNRVASLQEELQDITPEEELSYKT
                     NGLALSKRFITRHQSIDVKDTAHLLRAFDQASSRKMSYDEINCQSYLSEGNQQCIEVPV
                     DQDPDSNQTIFASTLRSIVQKRNLGANHYSSDSQLSAGLTPPTSEDGKALIGKKKILSP
                     SPSQLSESKELLENIPPGPLSRRNHAVLERRGSGAFPLDHSVTQTRQGFLPPLNVNSHP
                     PISDINVNNKICSLLSCGQKVLMPTVPIFPKEFKSKKMLLRRQSLQTEQIKQLVNF"
     misc_feature    490..579
                     /gene="ANKRD34B"
                     /gene_synonym="DP58"
                     /note="propagated from UniProtKB/Swiss-Prot (A5PLL1.3);
                     Region: ANK 1"
     misc_feature    589..702
                     /gene="ANKRD34B"
                     /gene_synonym="DP58"
                     /note="propagated from UniProtKB/Swiss-Prot (A5PLL1.3);
                     Region: ANK 2"
     misc_feature    712..804
                     /gene="ANKRD34B"
                     /gene_synonym="DP58"
                     /note="propagated from UniProtKB/Swiss-Prot (A5PLL1.3);
                     Region: ANK 3"
     misc_feature    814..903
                     /gene="ANKRD34B"
                     /gene_synonym="DP58"
                     /note="propagated from UniProtKB/Swiss-Prot (A5PLL1.3);
                     Region: ANK 4"
     misc_feature    1123..1212
                     /gene="ANKRD34B"
                     /gene_synonym="DP58"
                     /note="propagated from UniProtKB/Swiss-Prot (A5PLL1.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1252..1254
                     /gene="ANKRD34B"
                     /gene_synonym="DP58"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UUF8; propagated from
                     UniProtKB/Swiss-Prot (A5PLL1.3); phosphorylation site"
     misc_feature    1279..1281
                     /gene="ANKRD34B"
                     /gene_synonym="DP58"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q3UUF8; propagated from
                     UniProtKB/Swiss-Prot (A5PLL1.3); phosphorylation site"
     misc_feature    1351..1353
                     /gene="ANKRD34B"
                     /gene_synonym="DP58"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UUF8; propagated from
                     UniProtKB/Swiss-Prot (A5PLL1.3); phosphorylation site"
     regulatory      3711..3716
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKRD34B"
                     /gene_synonym="DP58"
                     /note="hexamer: AATAAA"
     polyA_site      3730
                     /gene="ANKRD34B"
                     /gene_synonym="DP58"
                     /note="major polyA site"
ORIGIN
        1 gattcgaggc gccgaggagc cgaagaccac agctcagctc agacggcgcc ctagggccgc
       61 acagagggtc gggcagtgcc ggagagaggt ttgaaagcgc cgccgccaac tcgacagcgc
      121 gtcccagcgc cttgagctcg cttcctcctg ctctcaggaa aaactgagga aacgcgcctg
      181 gttccagggg tcggcgggga ccgtggagac gctgccagca tcctcaacag cttggaaatc
      241 ccatcacctt ggttccctga gacttggagg actagtagga actgacagct ggctgacaga
      301 aaacttatcc agggagagaa gagacaaaag tgaagtgtga aattttgaat aatgttttca
      361 gatgctttgc attcagaata gacctctgag ttgggaccca agctgtcaac tgatcccaaa
      421 ttcctaagtt cctgacttgc aggtattgag ttctaacctc cgaagatgga tgaaggtatg
      481 gaaatttcaa gtgaaggaaa ttccttgatc aaagcagtcc atcagagccg gcttcgcctc
      541 acaagacttt tgctagaagg cggtgcctac attaatgaga gcaacgaccg tggggaaacc
      601 cctttaatga tcgcttgtaa gaccaaacat gtcgatcacc agagtgtcag taaagccaaa
      661 atggtgaaat acctgttaga gaacaatgcc gatcccaaca tacaggacaa atctgggaaa
      721 acggctctga tgcatgcttg cttagaaaaa gctggccctg aagttgtttc cttgctcctc
      781 aagagtgggg ctgacctcag cttgcaagac cattctagtt actcagctct tgtttatgct
      841 ataaattcag aagatacaga gaccctgaaa gttcttctta gtgcttgcaa ggcaaaaggg
      901 aaagaggtca tcatcatcac aacagcaaag ttgccctgtg ggaagcatac tactaaacaa
      961 tacttaaata tgcctcctgt ggatatagat gggtgtcatt ccccagctac ctgcaccact
     1021 ccttcagaaa tagacatcaa aactgcctca tcgccacttt cacattcttc tgaaacggaa
     1081 ctgacgcttt ttggctttaa agatcttgag cttgctggaa gcaatgatga tacctgggac
     1141 ccaggttccc ctgtgaggaa acctgcattg gcccctaagg ggcccaagct cccccacgct
     1201 ccaccctggg tcaagagtcc cccattatta atgcaccaga acagagtggc ttcattgcaa
     1261 gaggagctcc aggatattac accagaggaa gaactatcct ataaaaccaa tgggctggca
     1321 ctttccaagc ggttcatcac taggcaccaa agcattgatg taaaagacac tgcacatttg
     1381 ctaagagcct ttgatcaggc cagctcaagg aagatgtcat atgatgaaat aaattgtcaa
     1441 tcttatcttt cagaaggaaa tcagcaatgc attgaagtcc ctgttgacca ggacccagat
     1501 tctaaccaga caatatttgc ttccacctta agaagtatag ttcaaaaaag aaacttgggg
     1561 gcaaatcact acagctctga ttcccagctc tcagctggcc ttacccctcc aacttcagaa
     1621 gacggcaaag cacttatagg aaagaaaaag atcctctcac catctccttc ccaattgtca
     1681 gagtccaaag aattgttgga gaatatcccc ccaggtcccc tgagcaggag aaatcatgca
     1741 gttttagaaa ggcgaggttc aggagctttc cctttagatc acagtgttac ccaaaccaga
     1801 caagggtttc tcccaccctt aaatgtaaat tctcaccctc ccatctcaga tatcaatgtc
     1861 aacaacaaga tttgcagcct tctttcttgt ggtcaaaaag tgcttatgcc aacagttccg
     1921 attttcccta aagaattcaa aagtaagaaa atgttgttaa ggagacaatc attgcaaact
     1981 gaacaaatta agcaattagt aaacttctag gagatgggta taaaacacat cttcttcaaa
     2041 tgtttatatc agagaaacaa agaactagag aagaaatctt aaatgttcat tcttttaaat
     2101 ctcgtgattg gttagtccat aatggctaga tggattaaaa tgtaatgtga tttgtactag
     2161 gcgtcatgag cataaaaaat aatacatagt ttctgttaag ggaattctct caaacaaaag
     2221 gaaagcgatt tttctcaatg cttctaatat ttaacaatct ccatgtagtc caaatttgtc
     2281 attaaaaaaa aatcaaagaa agaaggccac gtatgttggg gtaattttta aaaattttca
     2341 gattggctaa atattttatt aggaaacagt tttcaagtca ataatttttt taacatttca
     2401 tgttaataaa tgagattgaa attttttatg atctctaaac cataaaagaa aacaccgaca
     2461 gctgtaaaat gttctaagat aaaaaaactc gagctacaaa gaaagaatga actaattctt
     2521 tacaaatgtt gactgaagat agataaaact ctaattaaaa atttaaaagg ttaaacactg
     2581 tattagaatg ggcaactaaa atattcgtgg tgtcagttta attagtgtca aactggcaag
     2641 tcagagtttt acaacctact agtaatctat gccgggtctt gttgtttgtg cactgtgttt
     2701 tgctttgctt tgttttggtt tttaaacaga cttacctgta aagttatctt acggaattat
     2761 tctttctcca tatcttttaa ggaattattc tttctccata tcatctttta attcctgtta
     2821 ttagttttgg aagcttatcc ataagtttcc aaagacaaga tgatataaaa gttaaaaagc
     2881 attcctcttt acttatatca aattattctt gtctttcaaa aagaaccaaa aaaaaaaaat
     2941 tcatcatgga taaaaactaa gcgcttgcct tcttttaaaa agaaaaactg atgattagat
     3001 taggttagct aaaattaata gaggcagtag aaacttaatc acaaaatgta ctaaatattt
     3061 ggcaatatta aacaatgcct ttttatttct gatatgtagt tattagacat ttatatatta
     3121 aggataactt ccttagtgtg acattccaat catttagtat tttaggacct gtgaataact
     3181 tccaacaaaa ttaatgaata ccatattagt attataaaat attataaagt aataattata
     3241 tcatctatat aacttcaaag tatgatgttt atacaaagaa tccttatttc agtctagcag
     3301 cttaacaaca aaggataaat cagactatac aaaacctaag tgtattaatt tgatgattgt
     3361 cacgtacaac tttctttgcc ttccaagtag aggtgatcct aacaattggc atgatgcttt
     3421 tcttggtaat ttgatataag caagttgtaa tgtacatagt aattatttaa ttactgtggc
     3481 ttttatttta aaaagtaatt agaggttttt ccatttcatg tcttgaacaa cattaatatt
     3541 aattacacta gaaatatttt ttgattcaga acttagaatt gtacctgata tttataggta
     3601 tttaaatgct ttctgcaagt taaatatcga gaaaagtact tgacttcaag ttgtaaggat
     3661 acaatttgga agggtatgta aatagattag ttcataaaca aaatggtatc aataaagatt
     3721 ttaaatatca
//
LOCUS       NM_001004450            1941 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens olfactory receptor family 1 subfamily B member 1
            (OR1B1), transcript variant 1, coding, mRNA.
ACCESSION   NM_001004450
VERSION     NM_001004450.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1941)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1941)
  AUTHORS   Koyano S, Emi M, Saito T, Makino N, Toriyama S, Ishii M, Kubota I,
            Kato T and Kawata S.
  TITLE     Common null variant, Arg192Stop, in a G-protein coupled receptor,
            olfactory receptor 1B1, associated with decreased serum
            cholinesterase activity
  JOURNAL   Hepatol Res 38 (7), 696-703 (2008)
   PUBMED   18328065
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 1941)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1941)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   5  (bases 1 to 1941)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000623530.2/ ENSP00000485577.2
            polymorphic pseudogene           :: based on alignments, homology
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL162254.17.
            On Jul 21, 2022 this sequence version replaced NM_001004450.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Transcript Variant: This variant (1, coding) represents the
            protein-coding allele encoded by the GRCh38 reference genome.
FEATURES             Location/Qualifiers
     source          1..1941
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     gene            1..1941
                     /gene="OR1B1"
                     /gene_synonym="OR9-26; OR9-B"
                     /note="olfactory receptor family 1 subfamily B member 1"
                     /db_xref="GeneID:347169"
                     /db_xref="HGNC:HGNC:8181"
     misc_feature    519..521
                     /gene="OR1B1"
                     /gene_synonym="OR9-26; OR9-B"
                     /note="upstream in-frame stop codon"
     misc_feature    531..533
                     /gene="OR1B1"
                     /gene_synonym="OR9-26; OR9-B"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     M"
     CDS             534..1487
                     /gene="OR1B1"
                     /gene_synonym="OR9-26; OR9-B"
                     /note="olfactory receptor OR9-26; olfactory receptor 9-B"
                     /codon_start=1
                     /product="olfactory receptor 1B1"
                     /protein_id="NP_001004450.2"
                     /db_xref="GeneID:347169"
                     /db_xref="HGNC:HGNC:8181"
                     /translation="MSFAPNASHSPVFLLLGFSRANISYTLLFFLFLAIYLTTILGNVT
                     LVLLISWDSRLHSPMYYLLRGLSVIDMGLSTVTLPQLLAHLVSHYPTIPAARCLAQFFF
                     FYAFGVTDTLVIAVMALDRYVAICDPLHYALVMNHQRCACLLALSWVVSILHTMLRVGL
                     VLPLCWTGDAGGNVNLPHFFCDHRPLLRASCSDIHSNELAIFFEGGFLMLGPCALIVLS
                     YVRIGAAILRLPSAAGRRRAVSTCGSHLTMVGFLYGTIICVYFQPPFQNSQYQDMVASV
                     MYTAITPLANPFVYSLHNKDVKGALCRLLEWVKVDP"
ORIGIN
        1 aggtctggag gtttgctatg tttttgtgtt ccgtgagtgc aaatatcaat ctgatctcaa
       61 gactactatt gctggtaaag cagaatggac attgcagttc agagagaaga catcatgagg
      121 attgcagttg ggtgaggtgt gaatggaagg taaggaactg gagacagtga atatagataa
      181 ttctttcatg aagtcggcca ctggaaaaag ataagaaata gttggatgaa aagacaagaa
      241 tgaatgaaga gtttttcact gtgggaggga ctttagtagg gcttgtgaat tagatggaac
      301 aagtcactag ggtgggtgaa aaggaagaaa taaaggagaa aataaataca tattaaggaa
      361 gcgaaatcct agaccttagg gagggagagt agatggtcaa gttcgaatct aggtctttaa
      421 cgatctttag taacgtaata taattaacta gaaatgctat gatccctaac atcagaccca
      481 tgactttctt tttgacttaa actgtctttc aggcaggctg actgtcactc atgatgagct
      541 ttgcccctaa tgcttcacac tctccggttt ttttgctcct tgggttctcg agagctaaca
      601 tctcctacac tctcctcttc ttcctgttcc tggctattta cctgaccacc atactgggga
      661 atgtgacact ggtgctgctc atctcctggg actccagact gcactcaccc atgtattatc
      721 tgcttcgtgg cctctctgtg atagacatgg ggctatccac agttacactg ccccagttgc
      781 tggcccattt ggtctctcat tacccaacca ttcctgctgc ccgctgcttg gctcagttct
      841 ttttcttcta tgcatttggg gttacagata cacttgtcat tgctgtcatg gctctggatc
      901 gctatgtggc catctgtgac cccctgcact atgctttggt aatgaatcac caacggtgtg
      961 cctgcttact agccttgagc tgggtggtgt ccatactgca caccatgttg cgtgtgggac
     1021 tcgtcctgcc tctttgctgg actggggatg ctgggggcaa cgttaacctt cctcacttct
     1081 tttgtgacca ccggccactt ctgcgagcct cttgttctga catacattct aatgagctgg
     1141 ccatattctt tgagggtggc ttccttatgc tgggcccctg tgccctcatt gtactctctt
     1201 atgtccgaat tggggccgct attctacgtt tgccttcagc tgctggtcgc cgccgagcag
     1261 tctccacctg tggatcccac ctcaccatgg ttggtttcct ctacggcacc atcatttgtg
     1321 tctacttcca gcctcccttc cagaactctc agtatcagga catggtggct tcagtaatgt
     1381 atactgccat tacacctttg gccaacccat ttgtgtatag cctccacaat aaggatgtca
     1441 agggtgcact ctgcaggctg cttgaatggg tgaaggtaga cccctgatta gcctgctgtg
     1501 ggccatattg aataggtgag aaaagtcatg ggcatattct gagcagagtt ggttttgggg
     1561 agatcagagg ggtggagggc ctagataact taaggaactc cagatttggc tcttgtcaat
     1621 gttgtgcttt gatggagcca tgaacattcc acattcatag acacataaga tcagggctcc
     1681 cttatcagca tacctctggg caccctccat caggcctttt attttatcaa agtggatgaa
     1741 aaagaattac caagtctggg tagttttaat tttagagttc tgagggaata tgaggatagg
     1801 attgtgaaac tatgaactaa acgaagagca gtagagttaa tcatcatcat cacatttagg
     1861 ttggtgtgtg ttcttgtggg agtgtgtttg tgtatatcag aaagtaaggg aagatgacag
     1921 tttagacaaa tagggctaag t
//
LOCUS       NM_001004451             969 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 1 subfamily J member 1
            (OR1J1), mRNA.
ACCESSION   NM_001004451
VERSION     NM_001004451.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 969)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   2  (bases 1 to 969)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 969)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136938.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000259357.3/ ENSP00000259357.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL359636.17.
            On Sep 19, 2004 this sequence version replaced XM_294531.4.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..969
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     gene            1..969
                     /gene="OR1J1"
                     /gene_synonym="hg32; OR9-18"
                     /note="olfactory receptor family 1 subfamily J member 1"
                     /db_xref="GeneID:347168"
                     /db_xref="HGNC:HGNC:8208"
     CDS             1..969
                     /gene="OR1J1"
                     /gene_synonym="hg32; OR9-18"
                     /note="olfactory receptor OR9-18"
                     /codon_start=1
                     /product="olfactory receptor 1J1"
                     /protein_id="NP_001004451.1"
                     /db_xref="CCDS:CCDS35120.1"
                     /db_xref="GeneID:347168"
                     /db_xref="HGNC:HGNC:8208"
                     /translation="MSPENQSSVSEFLLLGLPIRPEQQAVFFALFLGMYLTTVLGNLLI
                     MLLIQLDSHLHTPMYFFLSHLALTDISFSSVTVPKMLMNMQTQHLAVFYKGCISQTYFF
                     IFFADLDSFLITSMAYDRYVAICHPLHYATIMTQSQCVMLVAGSWVIACACALLHTLLL
                     AQLSFCADHIIPHYFCDLGALLKLSCSDTSLNQLAIFTAALTAIMLPFLCILVSYGHIG
                     VTILQIPSTKGICKALSTCGSHLSVVTIYYRTIIGLYFLPPSSNTNDKNIIASVIYTAV
                     TPMLNPFIYSLRNKDIKGALRKLLSRSGAVAHACNLNTLGG"
     misc_feature    13..15
                     /gene="OR1J1"
                     /gene_synonym="hg32; OR9-18"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGS3.1); glycosylation site"
     misc_feature    76..147
                     /gene="OR1J1"
                     /gene_synonym="hg32; OR9-18"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS3.1);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR1J1"
                     /gene_synonym="hg32; OR9-18"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS3.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR1J1"
                     /gene_synonym="hg32; OR9-18"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS3.1);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR1J1"
                     /gene_synonym="hg32; OR9-18"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS3.1);
                     transmembrane region"
     misc_feature    589..657
                     /gene="OR1J1"
                     /gene_synonym="hg32; OR9-18"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS3.1);
                     transmembrane region"
     misc_feature    709..777
                     /gene="OR1J1"
                     /gene_synonym="hg32; OR9-18"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS3.1);
                     transmembrane region"
     misc_feature    817..876
                     /gene="OR1J1"
                     /gene_synonym="hg32; OR9-18"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS3.1);
                     transmembrane region"
ORIGIN
        1 atgagccctg agaaccagag cagcgtgtcc gagttcctcc tcctgggcct ccccatccgg
       61 ccagagcagc aggccgtgtt cttcgccctg ttcctgggca tgtacctgac cacggtgctg
      121 gggaacctgc tcatcatgct gctcatccag ctagactctc accttcacac ccccatgtac
      181 ttcttcctta gccacttggc cctcactgac atctcctttt catctgtcac tgtccctaag
      241 atgctgatga acatgcagac tcagcaccta gccgtctttt acaagggatg catttcacag
      301 acatattttt tcatattttt tgctgactta gacagtttcc ttatcacttc aatggcatat
      361 gacaggtatg tggccatctg tcatcctcta cattatgcca ccatcatgac tcagagccag
      421 tgtgtcatgc tggtggctgg gtcctgggtc atcgcttgtg cgtgtgctct tttgcatacc
      481 ctcctcctgg cccagctttc cttctgtgct gaccacatca tccctcacta cttctgtgac
      541 cttggtgccc tgctcaagtt gtcctgctca gacacctccc tcaatcagtt agcaatcttt
      601 acagcagcat tgacagccat tatgcttcca ttcctgtgca tcctggtttc ttatggtcac
      661 attggggtca ccatcctcca gattccctct accaagggca tatgcaaagc cttgtccact
      721 tgtggatccc acctctcagt ggtgactatc tattatcgga caattattgg tctctatttt
      781 cttcccccat ccagcaacac caatgacaag aacataattg cttcagtgat atacacagca
      841 gtcactccca tgttgaaccc attcatttac agtctgagaa ataaagacat taagggagcc
      901 ctaagaaaac tcttgagtag gtcaggcgca gtggctcatg cctgtaatct caacactttg
      961 ggaggctga
//
LOCUS       NM_001004452             942 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 1 subfamily J member 4
            (OR1J4), mRNA.
ACCESSION   NM_001004452
VERSION     NM_001004452.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 942)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 942)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
REFERENCE   3  (bases 1 to 942)
  AUTHORS   Parmentier M, Libert F, Schurmans S, Schiffmann S, Lefort A,
            Eggerickx D, Ledent C, Mollereau C, Gerard C, Perret J et al.
  TITLE     Expression of members of the putative olfactory receptor gene family
            in mammalian germ cells
  JOURNAL   Nature 355 (6359), 453-455 (1992)
   PUBMED   1370859
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC131606.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000340750.1/ ENSP00000343521.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL359636.17.
            On Sep 18, 2004 this sequence version replaced XM_294533.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..942
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     gene            1..942
                     /gene="OR1J4"
                     /gene_synonym="HSHTPCRX01; HTPCRX01; OR9-21"
                     /note="olfactory receptor family 1 subfamily J member 4"
                     /db_xref="GeneID:26219"
                     /db_xref="HGNC:HGNC:8211"
     CDS             1..942
                     /gene="OR1J4"
                     /gene_synonym="HSHTPCRX01; HTPCRX01; OR9-21"
                     /note="olfactory receptor OR9-21"
                     /codon_start=1
                     /product="olfactory receptor 1J4"
                     /protein_id="NP_001004452.1"
                     /db_xref="CCDS:CCDS35122.1"
                     /db_xref="GeneID:26219"
                     /db_xref="HGNC:HGNC:8211"
                     /translation="MKRENQSSVSEFLLLDLPIWPEQQAVFFTLFLGMYLITVLGNLLI
                     ILLIRLDSHLHTPMFFFLSHLALTDISLSSVTVPKMLLSMQTQDQSILYAGCVTQMYFF
                     IFFTDLDNFLLTSMAYDRYVAICHPLRYTTIMKEGLCNLLVTVSWILSCTNALSHTLLL
                     AQLSFCADNTIPHFFCDLVALLKLSCSDISLNELVIFTVGQAVITLPLICILISYGHIG
                     VTILKAPSTKGIFKALSTCGSHLSVVSLYYGTIIGLYFLPSSSASSDKDVIASVMYTVI
                     TPLLNPFIYSLRNRDIKGALERLFNRATVLSQ"
     misc_feature    13..15
                     /gene="OR1J4"
                     /gene_synonym="HSHTPCRX01; HTPCRX01; OR9-21"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGS1.1); glycosylation site"
     misc_feature    76..147
                     /gene="OR1J4"
                     /gene_synonym="HSHTPCRX01; HTPCRX01; OR9-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS1.1);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR1J4"
                     /gene_synonym="HSHTPCRX01; HTPCRX01; OR9-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS1.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR1J4"
                     /gene_synonym="HSHTPCRX01; HTPCRX01; OR9-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS1.1);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR1J4"
                     /gene_synonym="HSHTPCRX01; HTPCRX01; OR9-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS1.1);
                     transmembrane region"
     misc_feature    586..657
                     /gene="OR1J4"
                     /gene_synonym="HSHTPCRX01; HTPCRX01; OR9-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS1.1);
                     transmembrane region"
     misc_feature    709..777
                     /gene="OR1J4"
                     /gene_synonym="HSHTPCRX01; HTPCRX01; OR9-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS1.1);
                     transmembrane region"
     misc_feature    817..876
                     /gene="OR1J4"
                     /gene_synonym="HSHTPCRX01; HTPCRX01; OR9-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS1.1);
                     transmembrane region"
ORIGIN
        1 atgaagaggg agaatcagag cagtgtgtct gagttcctcc tcctggacct ccccatctgg
       61 ccagagcagc aggctgtgtt cttcaccctg ttcttgggca tgtacctgat cacggtgctg
      121 gggaacctgc tcatcatcct gctcatccgg ctggactctc accttcacac ccccatgttc
      181 ttcttcctca gccacttggc tctcactgac atctcccttt catctgtcac tgtcccaaag
      241 atgttattaa gcatgcaaac tcaggatcaa tccattcttt atgcagggtg tgtaactcag
      301 atgtattttt tcatattttt cactgatcta gacaatttcc ttctcacttc aatggcatac
      361 gatcggtatg tggccatctg tcaccccctc cgctacacca ctatcatgaa agagggactg
      421 tgtaacttac tagtcactgt gtcctggatc ctctcctgta ccaatgccct gtctcacact
      481 ctcctcctgg cccagctgtc cttttgtgct gacaacacca tcccccattt cttctgtgat
      541 cttgttgccc tactcaagct ctcatgctca gacatctccc tcaatgagct ggtcattttc
      601 acagtgggac aggcagtcat tactctacca ctaatatgca tcttgatctc ttatggccac
      661 attggggtca ccatcctcaa ggctccatct actaagggca tcttcaaagc tttgtccacc
      721 tgtggctctc acctctctgt ggtgtctctg tattatggca caattattgg actgtatttt
      781 ctcccctcat ccagtgcctc cagtgacaag gacgtaattg cctctgtgat gtacacggtg
      841 atcaccccat tgctgaatcc cttcatttat agcctaagga acagggacat aaagggagcc
      901 ctggagagac tcttcaacag ggcaacagtc ttatctcaat ga
//
LOCUS       NM_001004453            1020 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 1 subfamily L member 6
            (OR1L6), mRNA.
ACCESSION   NM_001004453
VERSION     NM_001004453.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1020)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 1020)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304720.3/ ENSP00000304235.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006313.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 22, 2020 this sequence version replaced NM_001004453.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1020
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     gene            1..1020
                     /gene="OR1L6"
                     /gene_synonym="HG16; OR1K1; OR1L7; OR9-30"
                     /note="olfactory receptor family 1 subfamily L member 6"
                     /db_xref="GeneID:392390"
                     /db_xref="HGNC:HGNC:8218"
     misc_feature    10..12
                     /gene="OR1L6"
                     /gene_synonym="HG16; OR1K1; OR1L7; OR9-30"
                     /note="upstream in-frame stop codon"
     CDS             85..1020
                     /gene="OR1L6"
                     /gene_synonym="HG16; OR1K1; OR1L7; OR9-30"
                     /note="olfactory receptor, family 1, subfamily L, member 7;
                     olfactory receptor OR9-30; olfactory receptor 1L7"
                     /codon_start=1
                     /product="olfactory receptor 1L6"
                     /protein_id="NP_001004453.2"
                     /db_xref="CCDS:CCDS35130.2"
                     /db_xref="GeneID:392390"
                     /db_xref="HGNC:HGNC:8218"
                     /translation="MEIKNYSSSTSGFILLGLSSNPQLQKPLFAIFLIMYLLAAVGNVL
                     IIPAIYSDPRLHTPMYFFLSNLSFMDICFTTVIVPKMLVNFLSETKVISYVGCLAQMYF
                     FMAFGNTDSYLLASMAIDRLVAICNPLHYDVVMKPRHCLLMLLGSCSISHLHSLFRVLL
                     MSRLSFCASHIIKHFFCDTQPVLKLSCSDTSSSQMVVMTETLAVIVTPFLCIIFSYLRI
                     MVTVLRIPSAAGKWKAFSTCGSHLTAVALFYGSIIYVYFRPLSMYSVVRDRVATVMYTV
                     VTPMLNPFIYSLRNKDMKRGLKKLQDRIYR"
ORIGIN
        1 gcctgatctt aaccccatgg cagatcccga agtcttttta ggcccctgaa tctcctttgt
       61 caagcccaca ggaagtccag agacatggag ataaagaact acagcagcag cacctcaggc
      121 ttcatcctcc tgggcctctc ttccaaccct cagctgcaga aacctctctt tgccatcttc
      181 ctcatcatgt acctgctcgc tgcggtgggg aatgtgctca tcatcccggc catctactct
      241 gaccccaggc tccacacccc tatgtacttt tttctcagca acttgtcttt catggatatc
      301 tgcttcacaa cagtcatagt gcctaagatg ctggtgaatt ttctatcaga gacaaaggtt
      361 atctcctatg tgggctgcct ggcccagatg tacttcttta tggcatttgg gaacactgac
      421 agctacctgc tggcctctat ggccatcgac cggctggtgg ccatctgcaa ccccttacac
      481 tatgatgtgg ttatgaaacc acggcattgc ctgctcatgc tattgggttc ttgcagcatc
      541 tcccacctac attccctgtt ccgcgtgcta cttatgtctc gcttgtcttt ctgtgcctct
      601 cacatcatta agcacttttt ctgtgacacc cagcctgtgc taaagctctc ctgctctgac
      661 acatcctcca gccagatggt ggtgatgact gagaccttag ctgtcattgt gacccccttc
      721 ctgtgtatca tcttctccta cctgcgaatc atggtcactg tgctcagaat cccctctgca
      781 gccgggaagt ggaaggcctt ctctacctgt ggctcccacc tcactgcagt agcccttttc
      841 tatgggagta ttatttatgt ctattttagg cccctgtcca tgtactcagt ggttagggac
      901 cgggtagcca cagttatgta cacagtagtg acacccatgc tgaacccttt catctacagc
      961 ctgaggaaca aagatatgaa gaggggtttg aagaaattac aggacagaat ttaccggtaa
//
LOCUS       NM_001004454            2024 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 1 subfamily L member 8
            (OR1L8), mRNA.
ACCESSION   NM_001004454
VERSION     NM_001004454.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2024)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 2024)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: SRR1803614.467560.1 [ECO:0000331]
            RNAseq introns :: mixed sample support SAMEA2145245, SAMEA2145743
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641027.1/ ENSP00000493411.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL162254.17 and AL359636.17.
            On Jan 7, 2021 this sequence version replaced NM_001004454.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..2024
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     gene            1..2024
                     /gene="OR1L8"
                     /gene_synonym="OR9-24"
                     /note="olfactory receptor family 1 subfamily L member 8"
                     /db_xref="GeneID:138881"
                     /db_xref="HGNC:HGNC:15110"
     misc_feature    628..630
                     /gene="OR1L8"
                     /gene_synonym="OR9-24"
                     /note="upstream in-frame stop codon"
     CDS             664..1593
                     /gene="OR1L8"
                     /gene_synonym="OR9-24"
                     /note="olfactory receptor OR9-24"
                     /codon_start=1
                     /product="olfactory receptor 1L8"
                     /protein_id="NP_001004454.1"
                     /db_xref="CCDS:CCDS35124.1"
                     /db_xref="GeneID:138881"
                     /db_xref="HGNC:HGNC:15110"
                     /translation="MERINHTSSVSEFILLGLSSRPEDQKTLFVLFLIVYLVTITGNLL
                     IILAIRFNPHLQTPMYFFLSFLSLTDICFTTSVVPKMLMNFLSEKKTISYAGCLTQMYF
                     LYALGNSDSCLLAVMAFDRYVAVCDPFHYVTTMSHHHCVLLVAFSCSFPHLHSLLHTLL
                     LNRLTFCDSNVIHHFLCDLSPVLKLSCSSIFVNEIVQMTEAPIVLVTRFLCIAFSYIRI
                     LTTVLKIPSTSGKRKAFSTCGFYLTVVTLFYGSIFCVYLQPPSTYAVKDHVATIVYTVL
                     SSMLNPFIYSLRNKDLKQGLRKLMSKRS"
     misc_feature    676..678
                     /gene="OR1L8"
                     /gene_synonym="OR9-24"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGR8.1); glycosylation site"
     misc_feature    742..813
                     /gene="OR1L8"
                     /gene_synonym="OR9-24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR8.1);
                     transmembrane region"
     misc_feature    838..903
                     /gene="OR1L8"
                     /gene_synonym="OR9-24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR8.1);
                     transmembrane region"
     misc_feature    967..1026
                     /gene="OR1L8"
                     /gene_synonym="OR9-24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR8.1);
                     transmembrane region"
     misc_feature    1084..1140
                     /gene="OR1L8"
                     /gene_synonym="OR9-24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR8.1);
                     transmembrane region"
     misc_feature    1255..1323
                     /gene="OR1L8"
                     /gene_synonym="OR9-24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR8.1);
                     transmembrane region"
     misc_feature    1375..1443
                     /gene="OR1L8"
                     /gene_synonym="OR9-24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR8.1);
                     transmembrane region"
     misc_feature    1480..1539
                     /gene="OR1L8"
                     /gene_synonym="OR9-24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR8.1);
                     transmembrane region"
ORIGIN
        1 caggatccca tcgaggatat tatattatat tcagtcatcc tgtctccttc ggcttctctt
       61 gactatggag tcttgcactg tcgcccaggc tggagtgccg tggcatgatc tcaactcact
      121 gcaatctccg cctcccaggt tcaagctatt ctcctgcctc agcctcccga gtatctggga
      181 ttacagatcc atcagagaag tgaggtcaca cggcaaccca ctgcccccca aattggagag
      241 acagacaaca aaaatacaaa gaatcacagc ttactggagc agaaacccac aaacagaagc
      301 ctctgcagga atcagtgcta agtccagaag ttcagaggag aaacatgagg aagctgagct
      361 ttggctaaga agcagagttg gaaatcacag atgtgcagaa gatccacttc ttgagacaca
      421 tggaagcaaa ggaaaaacgc tggatacaga gatttcaata taatgccctt atggagccca
      481 tagatttggg aagggaggac cccatcaagg accatgaggt gaacaagcca tcccacaatt
      541 agcacagtag ctaattgtga ccaaacagaa gaaacaaaga cttgctaggt tctcatgatt
      601 ggtgttatga aatcagagca tgttaaatga caaaacttct tgtttataac tgagcccaag
      661 tcaatggaaa gaatcaacca caccagcagt gtctccgagt ttatcctcct gggactctcc
      721 tcccggcctg aggaccaaaa gacactcttt gttctcttcc tcatcgtgta cctggtcacc
      781 ataacaggga acctgctcat catcctggcc attcgcttca acccccatct tcagacccct
      841 atgtatttct tcttgagttt tctgtctctc actgatattt gctttacaac aagcgttgtc
      901 cccaagatgc tgatgaactt cctgtcagaa aagaagacca tctcctatgc tgggtgtctg
      961 acacagatgt attttctcta tgccttgggc aacagtgaca gctgccttct ggcagtcatg
     1021 gcctttgacc gctatgtggc cgtctgtgac cctttccact atgtcaccac catgagccac
     1081 caccactgtg tcctgctggt ggccttctcc tgctcatttc ctcacctcca ctcactcctg
     1141 cacacacttc tgctgaatcg tctcaccttc tgtgactcca atgttatcca ccactttctc
     1201 tgtgacctca gccctgtgct gaaattgtcc tgctcttcca tatttgtcaa tgaaattgtg
     1261 cagatgacag aagcacctat tgttttggtg actcgttttc tctgcattgc tttctcttat
     1321 atacgaatcc tcactacagt tctcaagatt ccctctactt ctgggaaacg caaagccttc
     1381 tccacctgtg gtttttacct caccgtggtg acgctctttt atggaagcat cttctgtgtc
     1441 tatttacagc ccccatccac ctacgctgtc aaggaccacg tggcaacaat tgtttacaca
     1501 gttttgtcat ccatgctcaa tccttttatc tacagcctga gaaacaaaga cctgaaacag
     1561 ggcctgagga agcttatgag caagagatcc taggaagcac cctcttgaaa aactcgtaag
     1621 tggaatctgc tcaacttgga cgtgttttct actggtttct ggtgaacagt caaagctgtt
     1681 ggaagctagc acttctgacc catgtgagac aaggctattg tgggcactta catccattga
     1741 tgatgaccca acaattcggc ctgtatctct taaatcacaa tcgtttcctg tctgtgtctc
     1801 ctctttcttg gaaagattta ttttttccac tttctcattt tccaaaaact gctttaatct
     1861 aatcctttcc ccatgaatat ttcctaaaca aatttctctc cttttattaa ggcagatcct
     1921 ccaaaattct tcacatttca atatattgct gaaaaatgtg taatttgtag ccattgaatg
     1981 tttttgcaaa aaaattgaaa agagaaagaa tgaaggaaga ggag
//
LOCUS       NM_001004456            2535 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 1 subfamily M member 1
            (OR1M1), mRNA.
ACCESSION   NM_001004456
VERSION     NM_001004456.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2535)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 2535)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000641627.1/ ENSP00000493107.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011464.5.
            On Aug 7, 2020 this sequence version replaced NM_001004456.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..2535
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..2535
                     /gene="OR1M1"
                     /gene_synonym="OR19-5; OR19-6"
                     /note="olfactory receptor family 1 subfamily M member 1"
                     /db_xref="GeneID:125963"
                     /db_xref="HGNC:HGNC:8220"
     misc_feature    42..44
                     /gene="OR1M1"
                     /gene_synonym="OR19-5; OR19-6"
                     /note="upstream in-frame stop codon"
     misc_feature    69..71
                     /gene="OR1M1"
                     /gene_synonym="OR19-5; OR19-6"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MVSRRGKIAQGITP"
     CDS             111..1052
                     /gene="OR1M1"
                     /gene_synonym="OR19-5; OR19-6"
                     /note="olfactory receptor OR19-5; olfactory receptor 19-6"
                     /codon_start=1
                     /product="olfactory receptor 1M1"
                     /protein_id="NP_001004456.1"
                     /db_xref="CCDS:CCDS32896.1"
                     /db_xref="GeneID:125963"
                     /db_xref="HGNC:HGNC:8220"
                     /translation="MEPRNQTSASQFILLGLSEKPEQETLLFSLFFCMYLVMVVGNLLI
                     ILAISIDSHLHTPMYFFLANLSLVDFCLATNTIPKMLVSLQTGSKAISYPCCLIQMYFF
                     HFFGIVDSVIIAMMAYDRFVAICHPLHYAKIMSLRLCRLLVGALWAFSCFISLTHILLM
                     ARLVFCGSHEVPHYFCDLTPILRLSCTDTSVNRIFILIVAGMVIATPFVCILASYARIL
                     VAIMKVPSAGGRKKAFSTCSSHLSVVALFYGTTIGVYLCPSSVLTTVKEKASAVMYTAV
                     TPMLNPFIYSLRNRDLKGALRKLVNRKITSSS"
     misc_feature    123..125
                     /gene="OR1M1"
                     /gene_synonym="OR19-5; OR19-6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGA1.1); glycosylation site"
     misc_feature    186..257
                     /gene="OR1M1"
                     /gene_synonym="OR19-5; OR19-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA1.1);
                     transmembrane region"
     misc_feature    282..347
                     /gene="OR1M1"
                     /gene_synonym="OR19-5; OR19-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA1.1);
                     transmembrane region"
     misc_feature    411..470
                     /gene="OR1M1"
                     /gene_synonym="OR19-5; OR19-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA1.1);
                     transmembrane region"
     misc_feature    528..584
                     /gene="OR1M1"
                     /gene_synonym="OR19-5; OR19-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA1.1);
                     transmembrane region"
     misc_feature    699..767
                     /gene="OR1M1"
                     /gene_synonym="OR19-5; OR19-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA1.1);
                     transmembrane region"
     misc_feature    819..887
                     /gene="OR1M1"
                     /gene_synonym="OR19-5; OR19-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA1.1);
                     transmembrane region"
     misc_feature    927..986
                     /gene="OR1M1"
                     /gene_synonym="OR19-5; OR19-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA1.1);
                     transmembrane region"
ORIGIN
        1 aaacatctaa cttcatcatc tagtacctgc tgggaggaca ctgagccagt ttaactcatg
       61 cctgggtgat ggtgtcaaga agaggaaaga tagcccaagg aatcacaccc atggaaccaa
      121 gaaaccaaac cagtgcatct caattcatcc tcctgggact ctcagaaaag ccagagcagg
      181 agacgcttct cttttccctg ttcttctgca tgtacctggt catggtcgtg gggaacctgc
      241 tcatcatcct ggccatcagc atagactccc acctccacac ccccatgtac ttcttcctgg
      301 ccaacctgtc cctggttgat ttctgtctgg ccaccaacac catccctaag atgctggtga
      361 gccttcaaac cgggagcaag gccatctctt atccctgctg cctgatccag atgtacttct
      421 tccatttctt tggcatcgtg gacagcgtca taatcgccat gatggcttat gaccggttcg
      481 tggccatctg ccacccattg cactacgcca agatcatgag cctacgcctc tgtcgcctgc
      541 tggtcggcgc cctctgggcg ttttcctgct tcatctcact cactcacatc ctcctgatgg
      601 cccgtctcgt tttctgcggc agccatgagg tgcctcacta cttctgcgac ctcactccca
      661 tcctccgact ttcgtgcacg gacacctctg tgaataggat cttcatcctc attgtggcag
      721 ggatggtgat agccacgccc tttgtctgca tcctggcctc ctatgctcgc atccttgtgg
      781 ccatcatgaa ggtcccctct gcaggcggca ggaagaaagc cttctccacc tgcagctccc
      841 acctgtctgt ggttgctctc ttctatggga ccaccattgg cgtctatctg tgtccctcct
      901 cggtcctcac cactgtgaag gagaaagctt ctgcggtgat gtacacagca gtcaccccca
      961 tgctgaatcc cttcatctac agcttgagga acagagacct gaaaggggct ctcaggaagc
     1021 tggtcaacag aaagatcacc tcatcttcct gaccaccagg actcaggaac ttctgggggg
     1081 tagaatatat acatctggga gtcttgggct aacatctgga attgcatgag ttgaagagta
     1141 ggcactttga attttattat tattattatt atttagagat ggggtctcac tatgttgccc
     1201 gtgctggagt gcagtggcgt gatcatagat cactgcagct tcaaacttct ctctctgtgt
     1261 gcattgtttt actagagaca gggtctcact aatttggcca ggctggtctg gaactcctgg
     1321 gctcaagcag tacttccccc tcagcctcct aacatcctag gattacaggt gtgagctacc
     1381 acgccgagcc tcactttgaa ttttttgttt gtttttgttt tttgagacag agtctcgttc
     1441 tgttgcccag gctggagtgc agtggcatga tcacggctca ttgcagcctt gacctccctg
     1501 gctgaagcaa tcctcccacc tcagccttcc gagtagctag gaccataggc acataccacc
     1561 atgctcagct aatttttgta tcttttgtac agacagggtt ttgccatact acccagccgc
     1621 agaagtttca cgggaagtct caggatggtc tggtaactgt ttttcttttt gttttctttt
     1681 ttgtttttga gacagagtct cattctgtca cccaggctgg agtgcaatgg catgatctct
     1741 gctcactgca acctccgcct ctgggttcaa gtgatcctcc tgcctcaccc tccagactag
     1801 ctggaactac aggcacccat caccataccc ggctaatttt tgtatttttg gtggagacag
     1861 ggttttacca tgtgggccag gctgttctcg acctcctgac ctcaaatgat ccacccacct
     1921 tggcctccca aagtgctggg attacaggcg tgagccacca agcctggctg gaaaggccat
     1981 ttgaggacac agcgaaaggg ggtctatctg ccacggaaga aagacttcac caaaaaccaa
     2041 tcccaacggc acgtcgatct tgggcttctg accctcagaa ccatgagaca atccacttca
     2101 cttatttagc cacgcagtct gcggtgtttt gttataacca gccctggccg aataacacag
     2161 tgactgtgag gggaggagtc ttaggaagat gtcaacacgt gaaggagtga aatgccgcca
     2221 tgtggttctg tggctggacc gactctgtct ccaaactccg ttaggaaaga taatcattct
     2281 ggggctctgt tgcccaggct ggagtgcagc ggcatgatta tagctcactg cagtcttgac
     2341 ctcctgggct caagcagtcc tcccacctca gcctcccaag tagttgggac cagaggcatg
     2401 cagcaccatg cccggctaat ttatttttat ttgtatatat ttttttggta gagatggggt
     2461 ctcactatgt tgtccaggct gctctcaaac tcctgagctc aagccatcct cccatctcag
     2521 cctctcaaaa tgctg
//
LOCUS       NM_001004457            1103 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 1 subfamily N member 2
            (OR1N2), mRNA.
ACCESSION   NM_001004457
VERSION     NM_001004457.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1103)
  AUTHORS   Letra A, Menezes R, Govil M, Fonseca RF, McHenry T, Granjeiro JM,
            Castilla EE, Orioli IM, Marazita ML and Vieira AR.
  TITLE     Follow-up association studies of chromosome region 9q and
            nonsyndromic cleft lip/palate
  JOURNAL   Am J Med Genet A 152A (7), 1701-1710 (2010)
   PUBMED   20583170
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 1103)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 1103)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript is intronless         :: BC137182.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000373688.3/ ENSP00000362792.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL359636.17.
            On Nov 7, 2018 this sequence version replaced NM_001004457.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1103
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     gene            1..1103
                     /gene="OR1N2"
                     /gene_synonym="OR9-23"
                     /note="olfactory receptor family 1 subfamily N member 2"
                     /db_xref="GeneID:138882"
                     /db_xref="HGNC:HGNC:15111"
     misc_feature    53..55
                     /gene="OR1N2"
                     /gene_synonym="OR9-23"
                     /note="upstream in-frame stop codon"
     misc_feature    59..61
                     /gene="OR1N2"
                     /gene_synonym="OR9-23"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MEGFYLRRSHELQG"
     CDS             101..1051
                     /gene="OR1N2"
                     /gene_synonym="OR9-23"
                     /note="olfactory receptor OR9-23"
                     /codon_start=1
                     /product="olfactory receptor 1N2"
                     /protein_id="NP_001004457.2"
                     /db_xref="CCDS:CCDS35123.2"
                     /db_xref="GeneID:138882"
                     /db_xref="HGNC:HGNC:15111"
                     /translation="MGKPGRVNQTTVSDFLLLGLSEWPEEQPLLFGIFLGMYLVTMVGN
                     LLIILAISSDPHLHTPMYFFLANLSLTDACFTSASIPKMLANIHTQSQIISYSGCLAQL
                     YFLLMFGGLDNCLLAVMAYDRYVAICQPLHYSTSMSPQLCALMLGVCWVLTNCPALMHT
                     LLLTRVAFCAQKAIPHFYCDPSALLKLACSDTHVNELMIITMGLLFLTVPLLLIVFSYV
                     RIFWAVFVISSPGGRWKAFSTCGSHLTVVLLFYGSLMGVYLLPPSTYSTERESRAAVLY
                     MVIIPTLNPFIYSLRNRDMKEALGKLFVSGKTFFL"
ORIGIN
        1 cagttctggc cacacagatg catatctgta aattgatcta ataaataaat actgacacat
       61 ggaaggtttt tatctgcgca gatcacacga actacaaggg atgggaaaac caggcagagt
      121 gaaccaaacc actgtttcag acttcctcct tctaggactc tctgagtggc cagaggagca
      181 gcctcttctg tttggcatct tccttggcat gtacctggtc accatggtgg ggaacctgct
      241 cattatcctg gccatcagct ctgacccaca cctccatact cccatgtact tctttctggc
      301 caacctgtca ttaactgatg cctgtttcac ttctgcctcc atccccaaaa tgctggccaa
      361 cattcatacc cagagtcaga tcatctcgta ttctgggtgt cttgcacagc tatatttcct
      421 ccttatgttt ggtggccttg acaactgcct gctggctgtg atggcatatg accgctatgt
      481 ggccatctgc caaccactcc attacagcac atctatgagt ccccagctct gtgcactaat
      541 gctgggtgtg tgctgggtgc taaccaactg tcctgccctg atgcacacac tgttgctgac
      601 ccgcgtggct ttctgtgccc agaaagccat ccctcatttc tattgtgatc ctagtgctct
      661 cctgaagctt gcctgctcag atacccatgt aaacgagctg atgatcatca ccatgggctt
      721 gctgttcctc actgttcccc tcctgctgat cgtcttctcc tatgtccgca ttttctgggc
      781 tgtgtttgtc atctcatctc ctggagggag atggaaggcc ttctctacct gtggttctca
      841 tctcacggtg gttctgctct tctatgggtc tcttatgggt gtgtatttac ttcctccatc
      901 aacttactct acagagaggg aaagtagggc tgctgttctc tatatggtga ttattcccac
      961 gctaaaccca ttcatttata gcttgaggaa cagagacatg aaggaggctt tgggtaaact
     1021 ttttgtcagt ggaaaaacat tctttttatg attagacatc tagacggtga tgtctaatct
     1081 tgatcaaccc ctccctgtct tcc
//
LOCUS       NM_001004458            1474 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens olfactory receptor family 1 subfamily S member 1
            (OR1S1), mRNA.
ACCESSION   NM_001004458
VERSION     NM_001004458.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1474)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1474)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1474)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000641544.1/ ENSP00000493053.1
            polymorphic pseudogene           :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP004247.2.
            On Jul 15, 2022 this sequence version replaced NM_001004458.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be non-functional as an olfactory receptor
            according to the Classifier for Olfactory Receptor Pseudogenes.
            This RefSeq was derived from genomic sequence to make the sequence
            consistent with the reference genome assembly. The genomic
            coordinates used for the transcript record were based on
            alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1474
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..1474
                     /gene="OR1S1"
                     /gene_synonym="OR11-232; OST034"
                     /note="olfactory receptor family 1 subfamily S member 1"
                     /db_xref="GeneID:219959"
                     /db_xref="HGNC:HGNC:8227"
     misc_feature    36..38
                     /gene="OR1S1"
                     /gene_synonym="OR11-232; OST034"
                     /note="upstream in-frame stop codon"
     misc_feature    135..137
                     /gene="OR1S1"
                     /gene_synonym="OR11-232; OST034"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MKTFSSFLQIGRN"
     CDS             174..1112
                     /gene="OR1S1"
                     /gene_synonym="OR11-232; OST034"
                     /note="olfactory receptor OR11-232"
                     /codon_start=1
                     /product="olfactory receptor 1S1"
                     /protein_id="NP_001004458.2"
                     /db_xref="GeneID:219959"
                     /db_xref="HGNC:HGNC:8227"
                     /translation="MHQGNQTTITEFILLGFFKQDEHQNLLFVLFLGMYLVTVIGNGLI
                     IVAISLDTYLHTPMYLFLANLSFADISSISNSVPKMLVNIQTKSQSISYESCITQMYFS
                     IVFVVIDNLLLGTMAYDHFVAICHPLNYTILMRPRFGILLTVISWFLSNIIALTHTLLL
                     IQLLFCNHNTLPHFFCDLAPLLKLSCSDTLINELVLFIVGLSVIIFPFTLSFFSYVCII
                     RAVLRVSSTQGKWKAFSTCGSHLTVVLLFYGTIVGVYFFPSSTHPEDTDKIGAVLFTVV
                     TPMINPFIYSLRNKDMKGALRKLINRKISSL"
ORIGIN
        1 agtaactttc tgagattttt accatcattc agaggtgaat ctcttcagaa tccagcattg
       61 gtcttgacca gctagacagt caccttaaga attcagaaca atttgtgcag gactactggt
      121 tttcttgtag gaatatgaag acttttagtt cctttcttca gatcggcaga aatatgcatc
      181 aaggaaacca aaccaccatc actgaattca ttctcctggg atttttcaag caggatgagc
      241 atcaaaacct cctctttgtg cttttcttgg gtatgtacct ggtcactgtg attgggaacg
      301 ggctcatcat tgtggctatc agcttggata cgtaccttca tacccccatg tatctcttcc
      361 ttgccaatct atcctttgct gatatttcct ccatttccaa ctcagtcccc aaaatgctgg
      421 tgaatattca aaccaagagt caatccatct cttatgagag ctgcatcaca cagatgtact
      481 tttctattgt gtttgtcgtc attgacaatt tgctcttggg gaccatggcc tatgaccact
      541 ttgtggcgat ctgccaccct ctgaattata caattctcat gcggcccagg ttcggcattt
      601 tgctcacagt catctcatgg ttcctcagta atattattgc tctgacacac acccttctgc
      661 tcattcaatt gctcttctgt aaccacaaca ctctcccaca cttcttctgt gacttggccc
      721 ctctgctcaa actgtcctgt tcagatacat tgatcaatga gcttgtgttg tttattgtgg
      781 gtttatcagt tatcatcttc ccctttacac tcagcttctt ttcctatgtc tgcatcatca
      841 gagctgtcct gagagtatct tccacacagg gaaagtggaa agccttctcc acttgtggct
      901 ctcacctgac agttgtatta ctgttctacg gaaccattgt aggcgtgtac tttttcccct
      961 cctccactca ccctgaggac actgataaga ttggtgctgt cctattcact gtggtgacac
     1021 ccatgataaa ccccttcatc tacagcttga ggaataagga tatgaaaggt gccctgagaa
     1081 agctcatcaa tagaaaaatt tcttcccttt gatgccctgg acctctacat tcttttagtc
     1141 cacataatca gataaatgat tcagcccaga gcgtatggca cagttgtgat ggttcaactt
     1201 ttgatgaact tgcaggtatc tgtctcctat tccaacctct gaaggggttg gagcttttcc
     1261 acttagctct tgtcttggaa acaaaacctg taactgccat ggtaagtcac aagaataaca
     1321 cgcatcctta gagagtagat tggtggttac cagggcccag gggtgggaag atggaatgga
     1381 ggtgatgagt tgttgattaa tgggtacaac aatacagtta gatagaagaa ataagaccta
     1441 ttgtttgata aatcattagg gggactatag taaa
//
LOCUS       NM_001004459             939 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 1 subfamily S member 2
            (OR1S2), mRNA.
ACCESSION   NM_001004459
VERSION     NM_001004459.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 939)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641683.2/ ENSP00000493223.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP004247.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 15, 2021 this sequence version replaced NM_001004459.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..939
                     /gene="OR1S2"
                     /gene_synonym="OR11-231"
                     /note="olfactory receptor family 1 subfamily S member 2"
                     /db_xref="GeneID:219958"
                     /db_xref="HGNC:HGNC:15141"
     CDS             1..939
                     /gene="OR1S2"
                     /gene_synonym="OR11-231"
                     /note="olfactory receptor OR11-231"
                     /codon_start=1
                     /product="olfactory receptor 1S2"
                     /protein_id="NP_001004459.2"
                     /db_xref="CCDS:CCDS31545.2"
                     /db_xref="GeneID:219958"
                     /db_xref="HGNC:HGNC:15141"
                     /translation="MHQENQTTITEFILLGLSNQAEHQNLLFVLFLSMYVVTVVGNGLI
                     IVAISLDIYLHTPMYLFLAYLSFADISSISNSVPKMLVNIQTNSQSISYESCITQMYFS
                     IVFVVTDNLLLGTMAFDHFVAICHPLNYTTFMRARFGTLLTVISWFLSNIIALTHTLLL
                     IQLLFCDHNTLPHFFCDLAPLLKLSCSDTMINELVLFIVGLSVIIFPFVLIFFSYVCII
                     RAVLGVSSTQGKWKAFSTCGSHLTIALLFYGTTVGVYFFPSSTHPEDTDKIGAVLFTVV
                     TPMMNPFIYSLRNKDMKGALRKLINRKISSL"
ORIGIN
        1 atgcatcaag aaaaccaaac caccatcact gaattcattc tcctgggact ctccaaccag
       61 gctgaacatc aaaacctcct ctttgtgctt ttcctgagta tgtatgtggt cactgtggtt
      121 gggaacgggc tcatcattgt ggctatcagc ttggatatat accttcacac ccccatgtat
      181 ctcttccttg cctacctatc ctttgctgat atttcctcca tttccaactc agtccccaaa
      241 atgctggtga atattcaaac caacagccaa tccatctctt atgagagctg catcacacag
      301 atgtactttt ctattgtgtt tgtcgtcact gacaatttgc ttttggggac catggccttc
      361 gaccactttg tggcgatctg ccaccctctg aactatacaa ctttcatgcg ggccaggttc
      421 ggcactttgc tcacagtcat ctcgtggttc ctcagtaata ttattgctct tacacacacc
      481 cttctgctca ttcaattgct cttctgtgac cacaacactc tcccacactt cttctgtgac
      541 ttggcccctc tgctcaaact gtcctgttca gatacaatga tcaatgagct tgtgttgttt
      601 attgtgggtt tatcagttat catcttcccc tttgtactca tcttcttctc ctatgtctgc
      661 atcatcagag ctgtcctggg agtatcatcc acacagggaa agtggaaagc cttctccact
      721 tgtggctctc acctgacaat tgcattactg ttctacggaa ccactgtagg cgtgtacttt
      781 ttcccctcct ccactcaccc tgaggacact gataagattg gtgctgtcct attcactgtg
      841 gtgacaccca tgatgaaccc cttcatctac agcttgagga ataaggatat gaaaggtgcc
      901 ctgagaaagc tcatcaatag aaaaatttct tccctttga
//
LOCUS       NM_001004460            5390 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily A member 2
            (OR10A2), mRNA.
ACCESSION   NM_001004460
VERSION     NM_001004460.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5390)
  AUTHORS   Bernstein JA, Zhang G, Jin L, Abbott C and Nebert DW.
  TITLE     Olfactory receptor gene polymorphisms and nonallergic vasomotor
            rhinitis
  JOURNAL   J Asthma 45 (4), 287-292 (2008)
   PUBMED   18446592
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 5390)
  AUTHORS   Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd
            C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E,
            Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K,
            Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC,
            Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES and
            Sakaki Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
REFERENCE   3  (bases 1 to 5390)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   4  (bases 1 to 5390)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
REFERENCE   5  (bases 1 to 5390)
  AUTHORS   Lane RP, Cutforth T, Young J, Athanasiou M, Friedman C, Rowen L,
            Evans G, Axel R, Hood L and Trask BJ.
  TITLE     Genomic analysis of orthologous mouse and human olfactory receptor
            loci
  JOURNAL   Proc Natl Acad Sci U S A 98 (13), 7390-7395 (2001)
   PUBMED   11416212
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641461.1/ ENSP00000493131.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC087280.11.
            On Aug 6, 2020 this sequence version replaced NM_001004460.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..5390
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..5390
                     /gene="OR10A2"
                     /gene_synonym="OR10A2P; OR11-82; OR11-86; OST363"
                     /note="olfactory receptor family 10 subfamily A member 2"
                     /db_xref="GeneID:341276"
                     /db_xref="HGNC:HGNC:8161"
     misc_feature    320..322
                     /gene="OR10A2"
                     /gene_synonym="OR10A2P; OR11-82; OR11-86; OST363"
                     /note="upstream in-frame stop codon"
     CDS             428..1339
                     /gene="OR10A2"
                     /gene_synonym="OR10A2P; OR11-82; OR11-86; OST363"
                     /note="olfactory receptor, family 10, subfamily A, member 2
                     pseudogene; olfactory receptor OR11-86; olfactory receptor
                     OR11-82 pseudogene; hP4 olfactory receptor"
                     /codon_start=1
                     /product="olfactory receptor 10A2"
                     /protein_id="NP_001004460.1"
                     /db_xref="CCDS:CCDS31415.1"
                     /db_xref="GeneID:341276"
                     /db_xref="HGNC:HGNC:8161"
                     /translation="MSFSSLPTEIQSLLFLTFLTIYLVTLMGNCLIILVTLADPMLHSP
                     MYFFLRNLSFLEIGFNLVIVPKMLGTLLAQDTTISFLGCATQMYFFFFFGVAECFLLAT
                     MAYDRYVAICSPLHYPVIMNQRTRAKLAAASWFPGFPVATVQTTWLFSFPFCGTNKVNH
                     FFCDSPPVLRLVCADTALFEIYAIVGTILVVMIPCLLILCSYTHIAAAILKIPSAKGKN
                     KAFSTCSSHLLVVSLFYISLSLTYFRPKSNNSPEGKKLLSLSYTVMTPMLNPIIYSLRN
                     NEVKNALSRTVSKALALRNCIP"
     misc_feature    464..526
                     /gene="OR10A2"
                     /gene_synonym="OR10A2P; OR11-82; OR11-86; OST363"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H208.2);
                     transmembrane region"
     misc_feature    551..613
                     /gene="OR10A2"
                     /gene_synonym="OR10A2P; OR11-82; OR11-86; OST363"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H208.2);
                     transmembrane region"
     misc_feature    686..748
                     /gene="OR10A2"
                     /gene_synonym="OR10A2P; OR11-82; OR11-86; OST363"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H208.2);
                     transmembrane region"
     misc_feature    806..868
                     /gene="OR10A2"
                     /gene_synonym="OR10A2P; OR11-82; OR11-86; OST363"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H208.2);
                     transmembrane region"
     misc_feature    980..1039
                     /gene="OR10A2"
                     /gene_synonym="OR10A2P; OR11-82; OR11-86; OST363"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H208.2);
                     transmembrane region"
     misc_feature    1100..1162
                     /gene="OR10A2"
                     /gene_synonym="OR10A2P; OR11-82; OR11-86; OST363"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H208.2);
                     transmembrane region"
     misc_feature    1202..1264
                     /gene="OR10A2"
                     /gene_synonym="OR10A2P; OR11-82; OR11-86; OST363"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H208.2);
                     transmembrane region"
ORIGIN
        1 actagcccca agaacaaaag aggcacaggt gggaacaact ctcccaaaac caggactggg
       61 agcatggcca aacttcatag tgagcttact tgcctctgac acacaaggca gcagtgagct
      121 ggctacagct ccagccatta atagctcagc caggacaggg aataagactt ccctggttct
      181 tcttttggct ttgctgaaac agaaatagag ctgttatatt acatgcatga aggacatgca
      241 tgaagcatgg atgtcagcca gagttgaaca aggcagatgt tcctgttgga cacagtaaga
      301 acgagtctga aaaacaaatt gagaatctga cttccaatca ataatctttc tccatgacca
      361 cagttgggga cttctgccca cacttatagc tacaggaaac tggacaagaa taagtgagtt
      421 tatcctcatg agcttctctt ccctgcctac tgaaatacag tcattactct ttctgacatt
      481 tctaaccatc tacctggtca ccctgatggg aaactgcctc atcattctgg ttaccctagc
      541 tgaccccatg ctacacagcc ccatgtactt cttcctcaga aacttatctt tcctggagat
      601 tggcttcaac ctagtcattg tgcccaaaat gctggggacc ctgcttgccc aggacacaac
      661 catctccttc cttggctgtg ccactcagat gtatttcttc ttcttctttg gagtggctga
      721 atgcttcctc ctggctacca tggcatatga ccgctatgtg gccatctgca gtcccttgca
      781 ctacccagtc atcatgaacc aaaggactcg tgccaaactg gctgctgcct cctggttccc
      841 aggctttcct gtagctactg tgcagaccac atggctcttc agttttccat tctgtggcac
      901 caacaaggtg aaccacttct tctgtgacag cccacctgtg ctgaggctgg tctgtgcaga
      961 cacagcactc tttgagatct acgccatcgt cggaaccatt ctggtggtca tgatcccctg
     1021 cttgctgatc ttgtgttcct atactcacat tgctgctgcc atcctcaaga tcccatcagc
     1081 taaagggaag aataaagcct tttctacatg ttcctcacac ctccttgttg tctctctttt
     1141 ctatatatca ttaagcctca cctacttccg gcctaaatca aataattcac ctgagggcaa
     1201 gaagctgcta tcattgtcct acactgttat gactcccatg ttgaacccca ttatctacag
     1261 cctgagaaat aacgaggtga agaatgccct cagcaggacg gtctctaagg ccctagccct
     1321 cagaaactgt atcccataga ccttaggaag taaggctaca ttttactgga tgagaaacaa
     1381 tcagtcccag atttgagatt cctctctgca tctttccaca tctccaataa gatgaagtcc
     1441 tgttgctgaa atggcttttg gaaagctgag tggagagaaa ggagcagaga agtagtttcg
     1501 acctagcacc accaactatg aaaactcctc tgcctgccca ttgtagactt acattgtttt
     1561 ccttgtttca actggtatga cagcacttct gtggccaact atttccaggt gttatatttc
     1621 tttttttttt tttttttgag acggagtctc gctctgtccc ccaggctgga gtgcagtggc
     1681 gcatctctgc tcactgcaag ctccgcctcc tgggttcacg ctgttctcct gcctcagcct
     1741 cccaagtagc tgggactaca ggtgcccgcc accatgcccg gctaattttt tgtatttttt
     1801 tagtagagac agggtttcac cgtgttagcc aggatggtct cgatctcctg acctcgtgat
     1861 ccacccgcct cggcctccca aagtgctggg attacaggcg tgagccaccg cgcctggccg
     1921 gtgtttatat ttctgtgtga cgtgcattgt gcacaatatg aaactgctag tcattataac
     1981 atgggggcac acatagtaac agagggtaaa acccaataaa aatcatcttg tcacttttcc
     2041 tcttctgggc agatctgact ctacattcat gacagaaaat ctcatgatct ttcccaacac
     2101 ataactctcc tcaccatctt acttcattct catgccctta agcagtgtta gttcttttaa
     2161 gcttactggt atgcagtatg catgtatgag agtagatcaa aagttcacat gcatatgcct
     2221 ttataacccc aataattatt tccttcacac tagattcttc ccaagaaaaa caacctgagc
     2281 ttccctaaga tctctattcc atattcaggt tcttatgttt tgttgaagta atatcgtaaa
     2341 tttcagtcat agctttgctt tgatgagaac aaagctccag aataagtctt ctttaaccac
     2401 aagatttctc cttcttataa tctggtagta ctctatttgt agatgtgccc taatttattt
     2461 agccagtctt ttactactac aaatcatgct gtaaataatg gacttatcca tatatctgtt
     2521 tttatatttt tgctagtgta cctgacaaat agaaatctag aaattgagtt tcttgggcaa
     2581 aagttaaata catacataat gttgctatat atattgattg tctatctagc tcccctctga
     2641 acttattgca ccattttatg ctcccaccag caatttatga ggtgtttgtt tccccacaac
     2701 tcaacaataa catttctcat gaaatattta gaatttcgat tatttaatat tttataaaaa
     2761 ctcaatgaaa ttttaatttg aatgaaataa attttgaaga ataagaaaga aacagatgat
     2821 caaatcagag gaaaggtgtg catttcattg aaacttgagt tatagattag acgattagca
     2881 attggtgatg tcttggtgtt ttattttctc ttcttgaaag gttgtttttc acttttattt
     2941 tagccaaatc tatcccatct ctcaagaccc cactgtgatt cctcaagaag cagaaatcac
     3001 tctttctgta tgcacccatt tcaagtttat taataaatac attaaatttt gtatatacta
     3061 catgtagaaa ctgtacatgt acttattttt acatgtttgt cttcctccaa cttttctgta
     3121 actcttcaaa aataagaatt gttcaagtgt ttctggtgtt ttgttttgtg tttgagacag
     3181 ggtctctctc tctgtcaccc aggctggact gcggtagcag aattatggct cactgtagcc
     3241 tcaaacacct gggctcaggc catcttcctg cctcagtctc cctagtggct gggactatag
     3301 gcgtacatca ccatgcctgg ccatttaaaa attttttttt agtagagacg aggtcttgct
     3361 atgctaccca gtctggtatc gaacttctga gttcaagcaa tccttctgcc tgaacctctc
     3421 aaagtgctgg gattataagt gtgagccatt gcatgcaaca caagtgtttc tcttttcttt
     3481 tctttctttc tttttttttt tttttttgag acaaaggtct gctctattac tcaggctgct
     3541 ggggtgcaat ggcacaatct tggctcactg caacttctgc cttctgggtt caatcaattc
     3601 tcatgcctca gcctcttgag tagctgggat tacaggcgtg ccaagccatg cccaactaat
     3661 tttttttttg tattttttag tagagatgca gttttaccat gttggagctc ctggcctcaa
     3721 gtgatctgcc tgcctcagcc tcccaagggc tgggattaca gacgtgggcc accatgccag
     3781 gccaagtatt tcccttttaa tatgacgtag gcattcctga aaagcttatg taatgcaaac
     3841 ctttacatta aaaatattat ggggaagtag ggctagggtt agggctagac tcaaaataca
     3901 tgcaacttta aagacaaggc attagtagaa acaacatttg gttcccagag agacaatgta
     3961 gactgcccag gcaggcagct cattgaggct ggaggttgcc acagtagata tttaaaatat
     4021 acaacaacag tagaatgaaa ataccaacaa tgcttggatt agaacaatga tgcttgatgc
     4081 tgagacaatt tgtactgggg tagggggtag tccttagtat gggtaaagaa tttgaagtaa
     4141 agcaaacaag aataacccaa aacctaaaga aaaagttgta catagtttca gggaaaggat
     4201 tccaacagaa gagtgccaca tgcacaaaca caggagtgct gagagactat gatgtgtgta
     4261 aggaacacaa agcatttttg tgtcactgaa aaatcagcta cactggggat ttgaaactgg
     4321 aaaaataagc agagatcaca ggaaaagacc ttgttaaagg atttacttta tcccaggggc
     4381 catacggagt aattgaaaga cattaagcag gtaagtgact taaccagagt tgctggttaa
     4441 gacagcaact ggtaagacag ttgctgataa gacagatcac atacaaacca aggatggttt
     4501 gaagagaatg aaccagaagc aggttcctac catactctag gccagagaaa ataaatccag
     4561 aacctaaagg cagtggtggt agagctggag aaggtgacac tgaattagtg tttaggagta
     4621 aaaataatca aatttggggc acaaattaaa ggattatatc ccagttcctg gcttgtactt
     4681 tggggtggtg ccatttactg aaatggggta tctacaaaga ggaggtttga ggtggaggaa
     4741 gcagacaagc acatttatat ctcttatcat tgtttcagtc cgtgtgaatt gtatgatgct
     4801 atattatatt cttttgtgcc tttgtctaaa ttccttatga atggggctca ctgtacctac
     4861 tttgtgtctg tgtagatgtt tccctgatta tttaccacat tttcttcatt atctattaaa
     4921 ttattcaata acaatttact gggcatctac ctttctaggc attggggtaa aaaaatgaat
     4981 aacacaattt ctatttcaag gagcatgtca tctactgtat gagacaaata catacaataa
     5041 tgattattct aaaataagaa ctatgaaagt ggtattccag ttctccaatg ttactaatat
     5101 attgaaattt tctgcccatc tttagaaatt gtgttgcttt gttcttacta ccaccctgta
     5161 ctggatactg gcttgtcctc acctgtgggc tcagatttat tcccattctg aaaaaatgag
     5221 tgcaagtgtc acttgtcggc caaatccctg acttggactc agccacccag gattccaaca
     5281 cttgctgaaa aaactactca acttatctgt gtctcagatt ccttgactgt aaaatgggta
     5341 taatactatc tgtatcttca ggtgttgtga gaatcaaata agataataca
//
LOCUS       NM_001004461            6052 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily A member 6
            (gene/pseudogene) (OR10A6), transcript variant 1, mRNA.
ACCESSION   NM_001004461
VERSION     NM_001004461.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6052)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6052)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6052)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641238.1/ ENSP00000493068.1
            polymorphic pseudogene :: PMID: 22908908
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC044810.7.
            On Jan 5, 2021 this sequence version replaced NM_001004461.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be non-functional as an olfactory receptor
            according to the Classifier for Olfactory Receptor Pseudogenes.
FEATURES             Location/Qualifiers
     source          1..6052
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..6052
                     /gene="OR10A6"
                     /gene_synonym="OR11-96"
                     /note="olfactory receptor family 10 subfamily A member 6
                     (gene/pseudogene)"
                     /db_xref="GeneID:390093"
                     /db_xref="HGNC:HGNC:15132"
     misc_feature    1952..1954
                     /gene="OR10A6"
                     /gene_synonym="OR11-96"
                     /note="upstream in-frame stop codon"
     CDS             1982..2926
                     /gene="OR10A6"
                     /gene_synonym="OR11-96"
                     /note="isoform 1 is encoded by transcript variant 1;
                     olfactory receptor 10A6; olfactory receptor OR11-96;
                     olfactory receptor, family 10, subfamily A, member 6"
                     /codon_start=1
                     /product="olfactory receptor 10A6 isoform 1"
                     /protein_id="NP_001004461.1"
                     /db_xref="GeneID:390093"
                     /db_xref="HGNC:HGNC:15132"
                     /translation="MERQNQSCVVEFILLGFSNYPELQGQLFVAFLVIYLVTLIGNAII
                     IVIVSLDQSLHVPMYLFLLNLSVVDLSFSAVIMPEMLVVLSTEKTTISFGGCFAQMYFI
                     LLFGGAECFLLGAMAYDRFAAICHPLNYQMIMNKGVFMKLIIFSWALGFMLGTVQTSWV
                     SSFPFCGLNEINHISCETPAVLELACADTFLFEIYAFTGTFLIILVPFLLILLSYIRVL
                     FAILKMPSTTGRQKAFSTCAAHLTSVTLFYGTASMTYLQPKSGYSPETKKVMSLSYSLL
                     TPLLNLLIYSLRNSEMKRALMKLWRRRVVLHTI"
     misc_feature    1994..1996
                     /gene="OR10A6"
                     /gene_synonym="OR11-96"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH74.1); glycosylation site"
     misc_feature    2057..2119
                     /gene="OR10A6"
                     /gene_synonym="OR11-96"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH74.1);
                     transmembrane region"
     misc_feature    2144..2206
                     /gene="OR10A6"
                     /gene_synonym="OR11-96"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH74.1);
                     transmembrane region"
     misc_feature    2279..2341
                     /gene="OR10A6"
                     /gene_synonym="OR11-96"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH74.1);
                     transmembrane region"
     misc_feature    2399..2461
                     /gene="OR10A6"
                     /gene_synonym="OR11-96"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH74.1);
                     transmembrane region"
     misc_feature    2573..2632
                     /gene="OR10A6"
                     /gene_synonym="OR11-96"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH74.1);
                     transmembrane region"
     misc_feature    2693..2755
                     /gene="OR10A6"
                     /gene_synonym="OR11-96"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH74.1);
                     transmembrane region"
     misc_feature    2795..2857
                     /gene="OR10A6"
                     /gene_synonym="OR11-96"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH74.1);
                     transmembrane region"
ORIGIN
        1 aataggtggc ttttgactac aggtgaatct tctgataaag tagtatgaaa attaaagaga
       61 cagagtcaac agagaaaggt tcgggcaata agtagaagtg ctgaagcctt ggggaggaag
      121 tgatctgcgt ctgcactcaa gacagcactg tatgccttca acttgctgtg tccatctgtc
      181 ttcctggctt cctcatctct cacagtgaat ttcttttggt tttcaaaaca tcacacaaaa
      241 ggcagtaggc ttccattcta gttttatggt gtcaccaagt gcctcctgac ttgagcaagt
      301 cagttttcct cctcctgcca tcctcctccg acctaatggc cttccattca tgacatcctg
      361 tgattgtgtt tgttcatcct ccaccccctt caaatgtcat cattccctta cttaaatttc
      421 tacagcacgt gttattaatt tccaattgtg ttgtgtgctg acttctctta ggcactctat
      481 tccttaaaaa tagagtctag gtttttctta ttttaaaatt catttattca aaaatgttgg
      541 tttaaaacct attatgagcc agggagggtt gtagtgtagg cagtgtgtgt agagcaaaga
      601 agcaaacaaa atctttgccc tctgggagct aagctctagt gagggatttt atatatatat
      661 atatatatat atatatacat acacatacac ataccttact agagcttata tatatataat
      721 atatataaaa tattaatctg tttatattta tataaatatt taaaatatat tttacacata
      781 tttcttaaaa aaaggataga ggatatatta tattctatgc catataatgt tataaaatca
      841 atgaactgaa tcactcagtt gtgtatatat atgtgtgcat gtgtgtgtat atatatatat
      901 atatatatat atatatatat gtacacatag aaagagagag agaaagaaag agaaagtcct
      961 ggggtatgcg gtacggggag gtactagttt atgcagcata ctggttaagg ggttagaagc
     1021 tattttatgt agtgtgctta gctctctgtt gagctctgga ttcatgtgta ttcctaaggg
     1081 tgcagagcct agaaaatggt agctggttaa tcagtgcttg ttgaataatt aatgattaaa
     1141 tgaatttttt gatgacgagt atagtgggaa gagagaagag agaaaaggag agagagagtg
     1201 aaatctttta aattacacaa tgatccccca aatggttttt ttcttaagtc atcatggtca
     1261 gaaggataga ccttggagat ctggccccaa aaacttcaca tccaggtaaa tcccaatata
     1321 attggccaga tccaggatgg gcagaaatct gcaagcttga agccaattca catagtctat
     1381 aggtcaccta atatggttgt gttgaaaatt caaatcccct ctatgtttct acagaatgtt
     1441 gttttctttc tccaagtcat atataggtac tttgaatcta attaatattt taaataagtt
     1501 tatatcaaat atgctgtaac attggattat taggctatta tcacatttgt tgagatatct
     1561 ttttcaatct atctgctttt ttatatttta ttttttgtag tcttaagttt tgcatttatg
     1621 taaaattcag ttaaataaag aacacttgca ccaatgttat gggattggaa cctaaggtat
     1681 aaagtattta tatttccatt aaggctatgt ttaattttca aataatatca aataaatttt
     1741 gatattattt gacaagatct ctgagccaga attcttcatt tctatttttt atatttggaa
     1801 tataatccaa gtatttggtc attgtctaaa attgccaaag aaaatttctg tcaggatagg
     1861 ctcctcatct tctgccagaa tttctggggt gaatgcagac tggaactctt agctaatgga
     1921 ctgtggcttt attctgtata tactatgtcc ataaaatcaa tgcacgactt cattactgaa
     1981 aatggaaaga caaaatcaaa gctgtgtggt tgaattcatc ctcttgggct tttctaacta
     2041 tcctgagctc caggggcagc tctttgtggc tttcctggtt atttatctgg tgaccctgat
     2101 aggaaatgcc attattatag tcatcgtctc cctagaccag agcctccacg ttcccatgta
     2161 cctgtttctc ctgaacttat ctgtggtgga cctgagtttc agtgcagtta ttatgcctga
     2221 aatgctggtg gtcctctcta ctgaaaaaac tacaatttct tttgggggct gttttgcaca
     2281 gatgtatttc atccttcttt ttggtggggc tgaatgtttt cttctgggag caatggctta
     2341 tgaccgattt gctgcaattt gccatcctct caactaccaa atgattatga ataaaggagt
     2401 ttttatgaaa ttaattatat tttcatgggc cttaggtttt atgttaggta ctgttcaaac
     2461 atcatgggta tctagttttc ccttttgtgg ccttaatgaa attaaccata tatcttgtga
     2521 aaccccagca gtgttagaac ttgcatgtgc agacacgttt ttgtttgaaa tctatgcatt
     2581 cacaggcacc tttttgatta ttttggttcc tttcttgttg atactcttgt cttacattcg
     2641 agttctgttt gccatcctga agatgccatc aaccactggg agacaaaagg ccttttccac
     2701 ctgtgccgct cacctcacat ctgtgaccct attctatggc acagccagta tgacttattt
     2761 acaacccaaa tctggctact caccggaaac caagaaagtg atgtcattgt cttactcact
     2821 tctgacacca ctgctgaatc tgcttatcta cagtttgcga aatagtgaga tgaagagggc
     2881 tttgatgaaa ttatggcgaa ggcgagtggt tttacacaca atctgactgt gttgagaagc
     2941 catgtaagat ttagtcactg catgactgta ttcaatctaa atttaataaa tttagattca
     3001 ttaagtttgc attttttggc atgagtatga ctaatttatt gtgttctcca agtttgattg
     3061 tatatcagga gcatctttat atgttaatgt ttttagtttt ttcaccagtg cataatattc
     3121 cttaatattg aatataacac aatttcaaca atttgtttag tagtagccct actgatggtt
     3181 atttttttgt cacaatagat aatactaaaa caaccagttt ttatatattc ataaattctg
     3241 gtgctttaat ttttacagaa tagctttcac aaagtaggtt tgaagggtca aaacaaatgt
     3301 gagtttgcaa gttttcatag atattactga gttacttttt taaatgattt taacaacttc
     3361 agactgacct gagcacccat cctatccctc tactatgttg tatgccaaga agcctacaat
     3421 aacgagatga gattttctgc ttctgtagtg aaaatctgtt ccatacataa gtaggaaaga
     3481 acagttattt attgagagga acacaatgtc tctactcagg gacccagaga gtctataatt
     3541 caaaactaga tatcttctgg ttattttaga atatatattc ctccagtgtt ttgagtagag
     3601 aacatcatgt gatcattttt gaaggtcatt taaagtacgg ctgtcctttc cacttataaa
     3661 ctatattttt tgaaacttgg tcaaatttct ttcataaggc aaaaatgcac ctcatacagg
     3721 ccaaacaatg tatgattgtg tttttttgtt gtgggacata aatatgatta cctcattgtg
     3781 cctattttct attatccttg ggtcatatca atatttatgt gcatctttcc aacataaaat
     3841 aatcacataa tagtctttct agttatatat aaagatgaat aattagacac attgcaacat
     3901 tgaaatataa catttcattc ttgcttccta ttttaatatt gctataataa atagaaaggg
     3961 ttcttctcat taaatctata tcaaaggagt tgacaacacc cttcatttct gctctggggg
     4021 tggaggtggg gtaataaagc ggttagaaca cttctacaaa acaatcattc attggatgga
     4081 aaacccttct tttcttcact actccttctg ccaaaaataa aggtgaagtt gcaaatctat
     4141 ttgaatttca aaaaaagaga gaaatttcat gagaagaagg ctggaacctt gtgggtaatg
     4201 atgcaggact tttcttctca gtcactttgg aagctgggga cccctgaccg gcaacagccc
     4261 acctggcatg ccccagctca cctctgttat agcttgtacc tgcattcagc agttcccaag
     4321 cttttgtacc acacccaaga agaatgagga tatgctgggc attgaagggt aaggatggtg
     4381 gagaagaatt ttactgaagg acagaacaac tgtcagcaga gaggggatat ggggggtggt
     4441 tcccctactg gaaggcagga aagccccacc atggtggctg ggtccaggac cttttaggga
     4501 ctcaaaatgg gaagtacatg ctggtttgtg aggtatgcaa aaaggttaaa gtgaagacac
     4561 cactcaaagg tgggcatgac agtgtagaaa aaccaattag gaaagggtag gtatatgtaa
     4621 aataggtgaa gagcggggaa caatcagagg aaagtatgtg aaatgggaag ataagttctc
     4681 aatccggtcc cagagtttaa cttgcagttt ggctttcagg ctttaaactg tcttttgttt
     4741 agaggtgggg tttcaccagg aacccacccc atctgcctag gcatttggct gcctcctgtc
     4801 gctatcagtg atatctgaat gttgtataat actgttttca tttgggcacc aaacagccct
     4861 cagcaaaagc ctttgattgg atcccatctc ttgatatcct gaaatttcct tctgatagct
     4921 tttaaaagaa ccaattaagt aagacttatg taaaacgaac aaatcagcaa agaaacaaac
     4981 aaaggaagct aaatacagaa agtcttttta gccattcttt agttcatttt gttcattgat
     5041 tctgtaaacc aatttttttc ttaaaaaaaa ttctttataa aaatgtctta agagagctaa
     5101 atctaatgaa atagtctctg ctcttgaagg atttacagtg tactggtcat tagatgctgg
     5161 aaggttacta tatttgacgc tttcctcttt cattgccttt gtgataaata aagcctggat
     5221 tggcaagatg ttcatgaaat tacaataaga aattaggtca ctctaattct aaatttgtat
     5281 gtgtgtgtgt atatgcgtgt gtgaatccaa gtatgtgctg ggaatttata catttgtgat
     5341 gttatgtgag gagatagaaa taatcgctag taaatttagt catagtttaa aatttttatg
     5401 ttattctgat gaatagaaat tgttagtatg cttcacacat aatagcctaa tcatatcatt
     5461 tctgcatact attcttcatg gtgattttta gttatagtca ccgtggctgc tactgctgct
     5521 agttttctag tttatgccca ttctcctttt tctttaatag agaaaacccc atttttgttc
     5581 tttaagtaga aaaaaaaaac aagtttctta agggcagtaa tgtatccagt taataaccaa
     5641 tttcccagtt tctcttttga acaagggtgg tttgtgacac agttctgact agtgatatat
     5701 aggtggacat ccttgagtag ggtgtctatg aaaactcttt aaaaatgtga cttagttaat
     5761 aaggactttt tgctcttcaa cctcctcctt ccttctacct gaaacaagcc atgaggctag
     5821 agatagtgca gctatcttgc aatgagagtt aaagcatgac tagaaaagcc aggccctaca
     5881 gaggccaagt ggaaagctag agggcccctg ggtctgtgac ggcattgcgt agtgacctta
     5941 tcattcctct cctgcctatt tgtttactga ctgttacttc agagaaataa accttgtctt
     6001 tgtttaatcc agtatttgct aggttttctg ttacagcata acccaatcca ga
//
LOCUS       NM_001004462            3301 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily G member 4
            (OR10G4), mRNA.
ACCESSION   NM_001004462
VERSION     NM_001004462.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3301)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3301)
  AUTHORS   Mainland JD, Keller A, Li YR, Zhou T, Trimmer C, Snyder LL, Moberly
            AH, Adipietro KA, Liu WL, Zhuang H, Zhan S, Lee SS, Lin A and
            Matsunami H.
  TITLE     The missense of smell: functional variability in the human odorant
            receptor repertoire
  JOURNAL   Nat Neurosci 17 (1), 114-120 (2014)
   PUBMED   24316890
  REMARK    GeneRIF: This study verified that variations in OR10G4 genotype
            explain over 15% of the observed variation in perceived intensity
            and over 10% of the observed variation in perceived valence for the
            high-affinity in vitro agonist guaiacol.
REFERENCE   3  (bases 1 to 3301)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2163459
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641722.1/ ENSP00000493036.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001884.4.
            On Jul 28, 2020 this sequence version replaced NM_001004462.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..3301
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..3301
                     /gene="OR10G4"
                     /gene_synonym="OR11-278"
                     /note="olfactory receptor family 10 subfamily G member 4"
                     /db_xref="GeneID:390264"
                     /db_xref="HGNC:HGNC:14809"
     misc_feature    135..137
                     /gene="OR10G4"
                     /gene_synonym="OR11-278"
                     /note="upstream in-frame stop codon"
     CDS             144..1079
                     /gene="OR10G4"
                     /gene_synonym="OR11-278"
                     /note="olfactory receptor OR11-278"
                     /codon_start=1
                     /product="olfactory receptor 10G4"
                     /protein_id="NP_001004462.1"
                     /db_xref="CCDS:CCDS31702.1"
                     /db_xref="GeneID:390264"
                     /db_xref="HGNC:HGNC:14809"
                     /translation="MSNASLVTAFILTGLPHAPGLDALLFGIFLVVYVLTVLGNLLILL
                     VIRVDSHLHTPMYYFLTNLSFIDMWFSTVTVPKMLMTLVSPSGRAISFHSCVAQLYFFH
                     FLGSTECFLYTVMSYDRYLAISYPLRYTSMMSGSRCALLATGTWLSGSLHSAVQTILTF
                     HLPYCGPNQIQHYFCDAPPILKLACADTSANVMVIFVDIGIVASGCFVLIVLSYVSIVC
                     SILRIRTSDGRRRAFQTCASHCIVVLCFFVPCVVIYLRPGSMDAMDGVVAIFYTVLTPL
                     LNPVVYTLRNKEVKKAVLKLRDKVAHPQRK"
     misc_feature    150..152
                     /gene="OR10G4"
                     /gene_synonym="OR11-278"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGN3.1); glycosylation site"
     misc_feature    213..275
                     /gene="OR10G4"
                     /gene_synonym="OR11-278"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN3.1);
                     transmembrane region"
     misc_feature    300..362
                     /gene="OR10G4"
                     /gene_synonym="OR11-278"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN3.1);
                     transmembrane region"
     misc_feature    438..500
                     /gene="OR10G4"
                     /gene_synonym="OR11-278"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN3.1);
                     transmembrane region"
     misc_feature    558..620
                     /gene="OR10G4"
                     /gene_synonym="OR11-278"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN3.1);
                     transmembrane region"
     misc_feature    732..791
                     /gene="OR10G4"
                     /gene_synonym="OR11-278"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN3.1);
                     transmembrane region"
     misc_feature    852..914
                     /gene="OR10G4"
                     /gene_synonym="OR11-278"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN3.1);
                     transmembrane region"
     misc_feature    948..1010
                     /gene="OR10G4"
                     /gene_synonym="OR11-278"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN3.1);
                     transmembrane region"
ORIGIN
        1 ccggttgttt gagtgatatc ttgcaaacta gtgcctatac gtagtgggta gaaagtgaaa
       61 aattggggga aaaagttaga tgagttttac tactgagaag aatcacatac tgcaagaggg
      121 agagagacca agggtgagaa gaaatgtcca acgccagcct cgtgacagca ttcatcctca
      181 caggccttcc ccatgcccca gggctggacg ccctcctctt tggaatcttc ctggtggttt
      241 acgtgctcac tgtgctgggg aacctcctca tcctgctggt gatcagggtg gattctcacc
      301 tccacacccc catgtactac ttcctcacca acctgtcctt cattgacatg tggttctcca
      361 ctgtcacggt gcccaaaatg ctgatgacct tggtgtcccc aagcggcagg gctatctcct
      421 tccacagctg cgtggctcag ctctattttt tccacttcct ggggagcacc gagtgtttcc
      481 tctacacagt catgtcctat gatcgctact tggccatcag ttacccgctc aggtacacca
      541 gcatgatgag tgggagcagg tgtgccctcc tggccaccgg cacttggctc agtggctctc
      601 tgcactctgc tgtccagacc atattgactt tccatttgcc ctactgtgga cccaaccaga
      661 tccagcacta cttctgtgac gcaccgccca tcctgaaact ggcctgtgca gacacctcag
      721 ccaacgtgat ggtcatcttt gtggacattg ggatagtggc ctcaggctgc tttgtcctga
      781 tagtgctgtc ctatgtgtcc atcgtctgtt ccatcctgcg gatccgcacc tcagatggga
      841 ggcgcagagc ctttcagacc tgtgcctccc actgtattgt ggtcctttgc ttctttgttc
      901 cctgtgttgt catttatctg aggccaggct ccatggatgc catggatgga gttgtggcca
      961 ttttctacac tgtgctgacg ccccttctca accctgttgt gtacaccctg agaaacaagg
     1021 aggtgaagaa agctgtgttg aaacttagag acaaagtagc acatcctcag aggaaataaa
     1081 tactaggaag taaatacact agtttgttta aaaatagtaa tctaatttag ttattcatgt
     1141 gaaattgatt atatgtatag ttctcagtgt taaactttat tccaaaacac ctgcacagtt
     1201 ataattcttc cacagattgt ctaagacagt tttaacctca cagctagact tatatttatg
     1261 atgaacatga ttatattctg aattattgac tcatttctca tcaataggtt tatattaagt
     1321 ttaaaacata ttttaatcaa atctcaggga tagatgatta attcatgttt ataaattgat
     1381 aaacggtttt tgtgttttgt ttgatttcat atacacataa acttaagaat ttaccatcat
     1441 ggagacatag ttcaaaacca gcaacaaata ttattcaaaa ccagcaaaaa atatcatttt
     1501 tctaattgtg gctgttcaaa tttgtttttg gttttaacgt atctatatat ttgtatgtgt
     1561 atatactatt ccaaacatgt atacaaaaga aagtacatga catttagcat atttaacata
     1621 taggttttca tatatttatg tatgtgtatg tatttgccta tttacatata tatctgaaaa
     1681 catttctaga aacactattt taattggcaa gaatagctag ctattaatat ttaaaatatt
     1741 accaatgaat caattagaaa ttgtatactc acagaataga ttactatcca gcaatgataa
     1801 cgaatgatct aacaactaca tatataattg tttacgcact ttatacattt gcacccattt
     1861 ttaatgtttg ttaagatcca atataaaaaa ttaaatctct taaatatcta gattacttgg
     1921 ggctgttttg tctcctagtt cacttggcaa tgtctggaaa tattcttgct tgtcacaggc
     1981 actggcgtct attggctata ggtcaggagt gttaaacatt ccacaatgca caggagagac
     2041 cctcacaaca aaacttacca tggccaaatg ccgatagtgc tgaggatgag aacccggagc
     2101 tgaatttaat tttaagcgac atgtgtaaga ccacgacaat agaaataaaa tattttcaga
     2161 taaatataaa atttgctgaa tgaatctagg attataaagt gcacatggag actcatattt
     2221 ttaaaatgcc aattccattc aaattgatct atagatttga tgctattcca agtaaaatcc
     2281 cagcgtttga ttttgcagct atggacatgt ggatcttaaa gtgcggattg aaatggaatg
     2341 agtcccaaaa tggtcaagaa tctcttgaag aaataaagga taactgaaag attgacaaca
     2401 ctagttatca caacttatgg caaagctcta gtaactcaga gagtgttgca tttgtatgag
     2461 actagacaaa tagaaaaacg gaactgaata cagagtaaag aaatagactg atacatattc
     2521 gtatgacaaa gatgacactg caaagcaata aagcatgatt gctttcttga ataaattatt
     2581 ttggggtatc tgggtattca gaataaaaaa aattagtctc gatcctattt catactatac
     2641 acataaaaaa ctcaattata gtagataaga gatataaatg tggtggactg tatgacactt
     2701 ctttaggtaa gacacttttt agtgatgcaa aaccttcttg gaaaaaaatt aattaaaata
     2761 cttttttaaa tttatttttt attattatac tttaagttct ggcatacatg tgcacaacgt
     2821 gcaggtttgt tatgtagcaa tacatgtgcc atgttggttt gctgcaccca tcaactcatc
     2881 ggttacatta ggtatttccc ctaatgctat ccctccccca gccccccacc ccccaaaagg
     2941 cccccttgtg tgatgttccc ctccctgtgt ccatgtgttc tcattgttca actcccactt
     3001 atgagtgaga acatgtggtg ttggttttct cttcttgtgt tactttgctg gaagatatta
     3061 gtttccagtt tcatcaatgt ccctacaaag aacatgaact catcctttct tatggctgca
     3121 tagtattcca tggtgtatat gtgccacatt ttctttatcc agtctatcat tgatggacat
     3181 ttgggtgggt tccaagtctt tgctattgtg aacaatgctg caataaacat acatgtgcat
     3241 gtgtctttat agtagcatga tttataatcc tttgggtata tacccagtaa cgggattgct
     3301 g
//
LOCUS       NM_001004463            3449 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily G member 7
            (OR10G7), mRNA.
ACCESSION   NM_001004463
VERSION     NM_001004463.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3449)
  AUTHORS   Tham EH, Dyjack N, Kim BE, Rios C, Seibold MA, Leung DYM and Goleva
            E.
  TITLE     Expression and function of the ectopic olfactory receptor OR10G7 in
            patients with atopic dermatitis
  JOURNAL   J Allergy Clin Immunol 143 (5), 1838-1848 (2019)
   PUBMED   30445058
  REMARK    GeneRIF: OR10G7 is expressed at significantly greater levels in
            undifferentiated keratinocytes from patients with atopic dermatitis
            compared with healthy control subjects
REFERENCE   2  (bases 1 to 3449)
  AUTHORS   Kosova G, Scott NM, Niederberger C, Prins GS and Ober C.
  TITLE     Genome-wide association study identifies candidate genes for male
            fertility traits in humans
  JOURNAL   Am J Hum Genet 90 (6), 950-961 (2012)
   PUBMED   22633400
REFERENCE   3  (bases 1 to 3449)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641585.1/ ENSP00000492905.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001884.4.
            On Aug 5, 2020 this sequence version replaced NM_001004463.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..3449
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..3449
                     /gene="OR10G7"
                     /gene_synonym="OR11-283"
                     /note="olfactory receptor family 10 subfamily G member 7"
                     /db_xref="GeneID:390265"
                     /db_xref="HGNC:HGNC:14842"
     misc_feature    452..454
                     /gene="OR10G7"
                     /gene_synonym="OR11-283"
                     /note="upstream in-frame stop codon"
     CDS             461..1396
                     /gene="OR10G7"
                     /gene_synonym="OR11-283"
                     /note="olfactory receptor OR11-283"
                     /codon_start=1
                     /product="olfactory receptor 10G7"
                     /protein_id="NP_001004463.1"
                     /db_xref="CCDS:CCDS31705.1"
                     /db_xref="GeneID:390265"
                     /db_xref="HGNC:HGNC:14842"
                     /translation="MSNATLLTAFILTGLPHAPGLDAPLFGIFLVVYVLTVLGNLLILL
                     VIRVDSHLHTPMYYFLTNLSFIDMWFSTVTVPKMLMTLVSPSGRTISFHSCVAQLYFFH
                     FLGSTECFLYTVMSYDRYLAISYPLRYTNMMTGRSCALLATGTWLSGSLHSAVQTILTF
                     HLPYCGPNQIQHYFCDAPPILKLACADTSANEMVIFVNIGLVASGCFVLIVLSYVSIVC
                     SILRIRTSEGRHRAFQTCASHCIVVLCFFGPGLFIYLRPGSRDALHGVVAVFYTTLTPL
                     FNPVVYTLRNKEVKKALLKLKNGSVFAQGE"
     misc_feature    467..469
                     /gene="OR10G7"
                     /gene_synonym="OR11-283"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGN6.1); glycosylation site"
     misc_feature    530..592
                     /gene="OR10G7"
                     /gene_synonym="OR11-283"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN6.1);
                     transmembrane region"
     misc_feature    617..679
                     /gene="OR10G7"
                     /gene_synonym="OR11-283"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN6.1);
                     transmembrane region"
     misc_feature    755..817
                     /gene="OR10G7"
                     /gene_synonym="OR11-283"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN6.1);
                     transmembrane region"
     misc_feature    875..937
                     /gene="OR10G7"
                     /gene_synonym="OR11-283"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN6.1);
                     transmembrane region"
     misc_feature    1049..1108
                     /gene="OR10G7"
                     /gene_synonym="OR11-283"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN6.1);
                     transmembrane region"
     misc_feature    1169..1231
                     /gene="OR10G7"
                     /gene_synonym="OR11-283"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN6.1);
                     transmembrane region"
     misc_feature    1265..1327
                     /gene="OR10G7"
                     /gene_synonym="OR11-283"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN6.1);
                     transmembrane region"
ORIGIN
        1 agataattag ctcctttata actaaaaccc atatttacta ttattaaatt taaaaaagaa
       61 ataggaaaaa aatcattccc tgcacaagga gttttcagat ccagagtgtc atagttattc
      121 attttggaag ttgatttttg gctaaataaa aaggtttatg gaatgatggc catccaatgc
      181 agaatcaact ttagcagatg catttggaaa aaattccaag tgtttatcat gatgtcaaca
      241 cattatcttc actcataagg actgtagagc taacggagtg tctcctaaga catcaaattc
      301 atattaagtt ctatttaaaa agagtttctt ctgtggtttc atctttgcaa gaaaagaaaa
      361 attataccac ttatcaagaa ctgacatttt ctttcaatat tgaattttgc ttcatgatcc
      421 aaaacctagt tgtaaaattg agccccatat atgagaagaa atgtccaacg ccaccctact
      481 gacagcgttc atcctcacgg gccttcccca tgccccaggg ctggacgccc ccctctttgg
      541 aatcttcctg gtggtttacg tgctcactgt gctggggaac ctcctcatcc tgctggtgat
      601 cagggtggat tctcacctcc acacccccat gtactacttc ctcaccaacc tgtccttcat
      661 tgacatgtgg ttctccactg tcacggtgcc caaaatgctg atgaccttgg tgtccccaag
      721 cggcaggact atctccttcc acagctgcgt ggctcagctc tattttttcc acttcctggg
      781 gagcaccgag tgtttcctct acacagtcat gtcctatgat cgctacctgg ccatcagtta
      841 cccgctcagg tacaccaaca tgatgactgg gcgctcgtgt gccctcctgg ccaccggcac
      901 ttggctcagt ggctctctgc actctgctgt ccagaccata ttgactttcc atttgcccta
      961 ctgtggaccc aaccagatcc agcactactt ctgtgacgca ccgcccatcc tgaaactggc
     1021 ctgtgcagac acctcagcca acgagatggt catctttgtg aatattgggc tagtggcctc
     1081 gggctgcttt gtcctgatag tgctgtccta tgtgtccatc gtctgttcca tcctgcggat
     1141 ccgcacctca gaggggaggc acagagcctt tcagacctgt gcctcccact gtatcgtggt
     1201 cctttgcttc tttggccctg gtcttttcat ttacctgagg ccaggctcca gggacgcctt
     1261 gcatggggtt gtggccgttt tctacaccac gctgactcct cttttcaacc ctgttgtgta
     1321 caccctgaga aacaaggagg taaagaaagc tctgttgaag ctgaaaaatg ggtcagtatt
     1381 tgctcagggt gaatagttaa gaaaggccat atatggctaa cttttctttt tttatttgta
     1441 attaaattaa accttcaaca taagcattat acttgaatgg agcatttcaa ttattcagtc
     1501 ttaattttta attggacagt taattaattt ttcatttttt tctgcagagt gtttgttaga
     1561 atcctagtta aagcagccat ttcacggtga taatctaaga gaaaggataa tagtctattc
     1621 ttttcacgtt ccattaagta atcagaaaag taatttattt tcttatataa atattttcca
     1681 gaattgttat tcagtataat gttcttacag tttattttgt gtcatttaag tcaaagcctt
     1741 ataaaaatct tttcatgttt taaactttct atattgaaaa attcattata gcattcataa
     1801 ataactacat aatttaatat ccataagata aaatttttac tttagaaaat actagacaaa
     1861 aaggcttggt tctcaagaag aatggcttta ttcacattca tgggccaata aaaaccatat
     1921 aactctttaa tatttttttc ttactttggc ctgaaagatt tctgagagta aatatttgtc
     1981 catttatgca ctgtatacac tgtacacatt gtattggtct ctgatgacaa ctatctagac
     2041 tttccttcca tatttgtgga gctgccaatc tcttatcctc aatggcaagt ttccattttc
     2101 agcaatttta aaattatttt tataagtacc agaggataaa taataaatat acaaaaatga
     2161 tcaaataatc ttagagacaa aaatatgcag tcaaaaactg ttaagagtat cccttaattt
     2221 agaataaagt actagataat atttcccatg taattagact atgtctgcaa gtcacattcg
     2281 tttgtttgac ttaaagtata tgaaatggac tctgtacact ctctgggtag gtaaggctca
     2341 gaccatgaac cttataatct gtcatccaaa taaatacata tatttaaagt gtaaataaat
     2401 ttttctcaaa ataaatgttt aatttaaata ccacaggtat cctggtcatg ccaactctgc
     2461 ctagcatagc atgaagagta aaagaaaact agaaggcagc tgctagaact gaaaagcatt
     2521 tctcaaactc ctcagatttg cagcagctgc atttcaaaga tgctttagca agaatgctcc
     2581 tttgtgccaa ctttccatat cttgctccaa gtaaactgtg cggtgatatt gagaagaaaa
     2641 acatactaac ttggtaagca tgagctacat aaaccatgac acagtacatg aagcatgaac
     2701 tacataaacc atgatcagta taagaggtaa atttttggtt ttcacaccaa gaaaccagat
     2761 tgctatggac caattatata attcagctca tttctcaaag gaaaaaactg aggtagacat
     2821 aaaccaaaat tacttagtca ttggattcac ttggattctt acacttctct gtaacatcac
     2881 gctgttatat ctaacttacc attacctaaa atgttatggg atatttattg ggtgttaagt
     2941 cacatgctaa acagtagata cgcaaaaaca atagacaagg tctctgcatt caccaaagtc
     3001 attgtctggc aagggggaaa aatatgttgc attgtccagg ttacattgtt gtaagtgcaa
     3061 tggatgccca aggagagatt cattattagt tttgacttgg aaagatgcta aaggattcaa
     3121 aatactatgg caatatgtat cacacacaac cattttgaaa gtaaattatt gataaacata
     3181 tataagaaga atgtcagtct ttatttaatt gaaaatgttg ttgaaataat tttagaatcg
     3241 catgaagttg taagaaataa cacagtgata gttcttgtta taccttgccc agtttccccc
     3301 aatggtaaca gttagcaaaa ttgtagtgca atatcacaac tgggatattg acattattat
     3361 aatccacaaa tcttattcag atttttctag ttttactcac gtgtatgtgt gtgtatttgt
     3421 taaatactat acagttttaa caccagtgt
//
LOCUS       NM_001004464            1109 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily G member 8
            (OR10G8), mRNA.
ACCESSION   NM_001004464
VERSION     NM_001004464.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1109)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641224.2/ ENSP00000493087.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001884.4.
            On Jul 22, 2020 this sequence version replaced NM_001004464.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1109
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..1109
                     /gene="OR10G8"
                     /gene_synonym="OR11-274; OR11-282"
                     /note="olfactory receptor family 10 subfamily G member 8"
                     /db_xref="GeneID:219869"
                     /db_xref="HGNC:HGNC:14845"
     misc_feature    89..91
                     /gene="OR10G8"
                     /gene_synonym="OR11-274; OR11-282"
                     /note="upstream in-frame stop codon"
     CDS             98..1033
                     /gene="OR10G8"
                     /gene_synonym="OR11-274; OR11-282"
                     /note="olfactory receptor OR11-282; olfactory receptor
                     OR11-274 pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 10G8"
                     /protein_id="NP_001004464.1"
                     /db_xref="CCDS:CCDS31704.1"
                     /db_xref="GeneID:219869"
                     /db_xref="HGNC:HGNC:14845"
                     /translation="MSNASLLTAFILMGLPHAPALDAPLFGVFLVVYVLTVLGNLLILL
                     VIRVDSHLHTTMYYFLTNLSFIDMWFSTVTVPKLLMTLVFPSGRAISFHSCMAQLYFFH
                     FLGGTECFLYRVMSCDRYLAISYPLRYTSMMTGRSCTLLATSTWLSGSLHSAVQAILTF
                     HLPYCGPNWIQHYLCDAPPILKLACADTSAIETVIFVTVGIVASGCFVLIVLSYVSIVC
                     SILRIRTSEGKHRAFQTCASHCIVVLCFFGPGLFIYLRPGSRKAVDGVVAVFYTVLTPL
                     LNPVVYTLRNKEVKKALLKLKDKVAHSQSK"
     misc_feature    104..106
                     /gene="OR10G8"
                     /gene_synonym="OR11-274; OR11-282"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGN5.1); glycosylation site"
     misc_feature    167..229
                     /gene="OR10G8"
                     /gene_synonym="OR11-274; OR11-282"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN5.1);
                     transmembrane region"
     misc_feature    254..316
                     /gene="OR10G8"
                     /gene_synonym="OR11-274; OR11-282"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN5.1);
                     transmembrane region"
     misc_feature    392..454
                     /gene="OR10G8"
                     /gene_synonym="OR11-274; OR11-282"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN5.1);
                     transmembrane region"
     misc_feature    512..574
                     /gene="OR10G8"
                     /gene_synonym="OR11-274; OR11-282"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN5.1);
                     transmembrane region"
     misc_feature    686..745
                     /gene="OR10G8"
                     /gene_synonym="OR11-274; OR11-282"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN5.1);
                     transmembrane region"
     misc_feature    806..868
                     /gene="OR10G8"
                     /gene_synonym="OR11-274; OR11-282"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN5.1);
                     transmembrane region"
     misc_feature    902..964
                     /gene="OR10G8"
                     /gene_synonym="OR11-274; OR11-282"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN5.1);
                     transmembrane region"
ORIGIN
        1 ggattatgga aaattttaag ttgagagcaa gcagttgtga gtgtctctca gccactggtg
       61 agagaaaagg agggagagag accaagggtg agaagaaatg tccaacgcca gcctactgac
      121 agcgttcatc ctcatgggcc ttccccatgc cccagcgctg gacgcccccc tctttggagt
      181 cttcctggtg gtttacgtgc tcactgtgct ggggaacctc ctcatcctgc tggtgatcag
      241 ggtggattct cacctccaca ccaccatgta ctacttcctc accaacctgt cgttcattga
      301 catgtggttc tccactgtca cggtgcccaa attgctgatg actttggtgt tcccaagtgg
      361 cagggctatc tccttccaca gctgcatggc tcagctctat ttctttcact tcctaggggg
      421 caccgagtgt ttcctctaca gggtcatgtc ctgtgatcgc tacctggcca tcagttaccc
      481 gctcaggtac accagcatga tgactgggcg ctcgtgtact cttctggcca ccagcacttg
      541 gctcagtggc tctctgcact ctgctgtcca ggccatattg actttccatt tgccctactg
      601 tggacccaac tggatccagc actatttgtg tgatgcaccg cccatcctga aactggcctg
      661 tgcagacacc tcagccatag agactgtcat ttttgtgact gttggaatag tggcctcggg
      721 ctgctttgtc ctgatagtgc tgtcctatgt gtccatcgtc tgttccatcc tgcggatccg
      781 cacctcagag gggaagcaca gagcctttca gacctgtgcc tcccactgta tcgtggtcct
      841 ttgcttcttt ggccctggtc ttttcattta cctgaggcca ggctccagga aagctgtgga
      901 tggagttgtg gccgttttct acactgtgct gacgcccctt ctcaaccctg ttgtgtacac
      961 cctgaggaac aaggaggtga agaaagctct gttgaagctg aaagacaaag tagcacattc
     1021 tcagagcaaa tagacactag ggaagattac atatcttagc tcttgtgaat agtgctgtga
     1081 aaaacataca ggggcaggta tcttttgga
//
LOCUS       NM_001004465             951 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily H member 4
            (OR10H4), mRNA.
ACCESSION   NM_001004465
VERSION     NM_001004465.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 951)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 951)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000322107.1/ ENSP00000318834.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011517.7.
            On Sep 18, 2004 this sequence version replaced XM_065153.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..951
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.12"
     gene            1..951
                     /gene="OR10H4"
                     /gene_synonym="OR19-28"
                     /note="olfactory receptor family 10 subfamily H member 4"
                     /db_xref="GeneID:126541"
                     /db_xref="HGNC:HGNC:15388"
     CDS             1..951
                     /gene="OR10H4"
                     /gene_synonym="OR19-28"
                     /note="olfactory receptor OR19-28"
                     /codon_start=1
                     /product="olfactory receptor 10H4"
                     /protein_id="NP_001004465.1"
                     /db_xref="CCDS:CCDS32941.1"
                     /db_xref="GeneID:126541"
                     /db_xref="HGNC:HGNC:15388"
                     /translation="MPSQNYSIISEFNLFGFSAFPQHLLPILFLLYLLMFLFTLLGNLL
                     IMATIWIEHRLHTPMYLFLCTLSVSEILFTVAITPRMLADLLSTHHSITFVACANQMFF
                     SFMFGFTHSFLLLVMGYDRYVAICHPLRYNVLMSPRDCAHLVACTWAGGSVMGMMVTTI
                     VFHLTFCGSNVIHHFFCHVLSLLKLACENKTSSVIMGVMLVCVTALIGCLFLIILSYVF
                     IVAAILRIPSAEGRHKTFSTCVSHLTVVVTHYSFASFIYLKPKGLHSMYSDALMATTYT
                     VFTPFLSPIIFSLRNKELKNAINKNFYRKFCPPSS"
     misc_feature    13..15
                     /gene="OR10H4"
                     /gene_synonym="OR19-28"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGA5.1); glycosylation site"
     misc_feature    79..141
                     /gene="OR10H4"
                     /gene_synonym="OR19-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA5.1);
                     transmembrane region"
     misc_feature    166..228
                     /gene="OR10H4"
                     /gene_synonym="OR19-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA5.1);
                     transmembrane region"
     misc_feature    301..363
                     /gene="OR10H4"
                     /gene_synonym="OR19-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA5.1);
                     transmembrane region"
     misc_feature    421..483
                     /gene="OR10H4"
                     /gene_synonym="OR19-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA5.1);
                     transmembrane region"
     misc_feature    595..657
                     /gene="OR10H4"
                     /gene_synonym="OR19-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA5.1);
                     transmembrane region"
     misc_feature    718..780
                     /gene="OR10H4"
                     /gene_synonym="OR19-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA5.1);
                     transmembrane region"
     misc_feature    820..882
                     /gene="OR10H4"
                     /gene_synonym="OR19-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA5.1);
                     transmembrane region"
ORIGIN
        1 atgcctagtc agaactatag catcatatct gaatttaacc tctttggctt ctcagccttc
       61 ccccagcacc tcctgcccat cttgttcctg ctgtacctcc tgatgttcct gttcacattg
      121 ctgggcaacc ttctcatcat ggccacaatc tggattgaac acagactcca cacacccatg
      181 tacctcttct tgtgcaccct ctccgtctct gagattctgt tcactgttgc catcacccct
      241 cgcatgctgg ctgatctgct ttccacccat cattccatca cctttgtggc ttgtgccaac
      301 cagatgttct tctccttcat gtttggcttc actcactcct tccttctcct ggtcatgggc
      361 tatgatcgct atgtggccat ctgccaccca ctgcgttaca atgtgctcat gagcccccgt
      421 gactgtgccc atcttgtggc ctgtacctgg gctggtggct cagtcatggg gatgatggtg
      481 acaacgatag ttttccacct cactttctgt gggtctaatg tgatccacca ttttttctgt
      541 catgtgcttt ccctcttgaa gttggcctgt gaaaacaaga catcatctgt catcatgggt
      601 gtgatgctgg tgtgtgtcac agccctgata ggctgtttat tcctcatcat cctctcctat
      661 gtcttcattg tggctgccat cttgaggatt ccctctgccg aaggccggca caagacattt
      721 tctacgtgtg tatcccacct cactgtggtg gtcacgcact atagttttgc ctcctttatc
      781 tacctcaagc ccaagggcct ccattctatg tacagtgacg ccttgatggc caccacctat
      841 actgtcttca cccccttcct tagcccaatc attttcagcc taaggaacaa ggagctgaag
      901 aatgccataa ataaaaactt ttacagaaaa ttctgtcctc caagttcctg a
//
LOCUS       NM_001004466            6376 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily H member 5
            (OR10H5), mRNA.
ACCESSION   NM_001004466
VERSION     NM_001004466.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6376)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 6376)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642092.2/ ENSP00000493242.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011537.8.
            On Aug 6, 2020 this sequence version replaced NM_001004466.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..6376
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.12"
     gene            1..6376
                     /gene="OR10H5"
                     /gene_synonym="OR19-25; OR19-26"
                     /note="olfactory receptor family 10 subfamily H member 5"
                     /db_xref="GeneID:284433"
                     /db_xref="HGNC:HGNC:15389"
     CDS             68..1015
                     /gene="OR10H5"
                     /gene_synonym="OR19-25; OR19-26"
                     /note="olfactory receptor OR19-26; olfactory receptor
                     OR19-25"
                     /codon_start=1
                     /product="olfactory receptor 10H5"
                     /protein_id="NP_001004466.1"
                     /db_xref="CCDS:CCDS32940.1"
                     /db_xref="GeneID:284433"
                     /db_xref="HGNC:HGNC:15389"
                     /translation="MQGLNHTSVSEFILVGFSAFPHLQLMLFLLFLLMYLFTLLGNLLI
                     MATVWSERSLHMPMYLFLCALSITEILYTVAIIPRMLADLLSTQRSIAFLACASQMFFS
                     FSFGFTHSFLLTVMGYDRYVAICHPLRYNVLMSLRGCTCRVGCSWAGGLVMGMVVTSAI
                     FHLAFCGHKEIHHFFCHVPPLLKLACGDDVLVVAKGVGLVCITALLGCFLLILLSYAFI
                     VAAILKIPSAEGRNKAFSTCASHLTVVVVHYGFASVIYLKPKGPQSPEGDTLMGITYTV
                     LTPFLSPIIFSLRNKELKVAMKKTCFTKLFPQNC"
     misc_feature    80..82
                     /gene="OR10H5"
                     /gene_synonym="OR19-25; OR19-26"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGA6.1); glycosylation site"
     misc_feature    143..205
                     /gene="OR10H5"
                     /gene_synonym="OR19-25; OR19-26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA6.1);
                     transmembrane region"
     misc_feature    230..292
                     /gene="OR10H5"
                     /gene_synonym="OR19-25; OR19-26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA6.1);
                     transmembrane region"
     misc_feature    365..427
                     /gene="OR10H5"
                     /gene_synonym="OR19-25; OR19-26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA6.1);
                     transmembrane region"
     misc_feature    485..547
                     /gene="OR10H5"
                     /gene_synonym="OR19-25; OR19-26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA6.1);
                     transmembrane region"
     misc_feature    659..721
                     /gene="OR10H5"
                     /gene_synonym="OR19-25; OR19-26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA6.1);
                     transmembrane region"
     misc_feature    782..844
                     /gene="OR10H5"
                     /gene_synonym="OR19-25; OR19-26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA6.1);
                     transmembrane region"
     misc_feature    884..946
                     /gene="OR10H5"
                     /gene_synonym="OR19-25; OR19-26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA6.1);
                     transmembrane region"
     regulatory      6356..6361
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR10H5"
                     /gene_synonym="OR19-25; OR19-26"
                     /note="hexamer: AATAAA"
     polyA_site      6376
                     /gene="OR10H5"
                     /gene_synonym="OR19-25; OR19-26"
                     /note="major polyA site"
ORIGIN
        1 tgcccagggc cattacaggc ctggctgcaa ggcgtcccta aaggtctctg atgaaggggt
       61 ggccgccatg caggggctaa accacacctc cgtgtctgaa ttcatcctcg ttggcttctc
      121 tgccttcccc cacctccagc tgatgctctt cctgctgttc ctgctgatgt acctgttcac
      181 gctgctgggc aacctgctca tcatggccac tgtctggagc gagcgcagcc tccacatgcc
      241 catgtacctc ttcctgtgtg ccctctccat caccgagatc ctctacaccg tggccatcat
      301 cccgcgcatg ctggccgacc tgctgtccac ccagcgctcc atcgccttcc tggcctgtgc
      361 cagtcagatg ttcttctcct tcagcttcgg cttcacccac tccttcctgc tcactgtcat
      421 gggctacgac cgctacgtgg ccatctgcca ccccctgcgt tacaacgtgc tcatgagcct
      481 gcggggctgc acctgccggg tgggctgctc ctgggctggt ggcttggtca tggggatggt
      541 ggtgacctcg gccattttcc acctcgcctt ctgtggacac aaggagatcc accatttctt
      601 ctgccacgtg ccacctctgt tgaagttggc ctgtggagat gatgtgctgg tggtggccaa
      661 aggcgtgggc ttggtgtgta tcacggccct gctgggctgt tttctcctca tcctcctctc
      721 ctatgccttc atcgtggccg ccatcttgaa gatcccttct gctgaaggtc ggaacaaggc
      781 cttctccacc tgtgcctctc acctcactgt ggtggtcgtg cactatggct ttgcctccgt
      841 catttacctg aagcccaaag gtccccagtc tccggaagga gacaccttga tgggcatcac
      901 ctacacggtc ctcacaccct tcctcagccc catcatcttc agcctcagga acaaggagct
      961 gaaggtcgcc atgaagaaga cttgcttcac caaactcttt ccacagaact gctgaaatgg
     1021 ctgactttct ctcaagagat gtagcgaatg ggaacacttt agtcttcctc ctttatttct
     1081 tttcctttcc tccctccctc ctttcctccc tccctccctt ccttccttct ttccttcctc
     1141 cctccctcct ttcctccctc cttctctgac ctacagtcca ccctccctcc cccctcctcc
     1201 ttgccttcct tccatccttc ctccctccct ccctccccct tccttcttct ctgcctactt
     1261 ccctctttcc cttctctctg tctctttctg tttctatacc tctctgtctc tgtcactctc
     1321 tttctccctc cttgttcttt tgtttttgtt tttgtttttg ttttgactga gtctcgttct
     1381 gtcacccagg ttggagtgcg ttggcacaat ctcggctcac tgcaacctcc acctcctggg
     1441 ttcaagcgat tctcctgcct cagcctcccg actagctggg attacaggca cacaccacca
     1501 tgcctggcta atttttgtat ttgtagtaga gacggggttt caccatgttg gccaggctgg
     1561 tctcgaactc ctgacctcag gcattatgcc cacctcagcc tcccaaagtg ctgggatcac
     1621 aggcgtgagt caccacaccc agccctgact tttttactgt agacatccca gtggtttctt
     1681 attggggttt tgatttgcat ttccccaatg actaatgaca ggctttaggt gcttaacaca
     1741 tgtgagttat tttacttcac agggaagata ggattactaa ctccattttg tttgttcgtt
     1801 agttggttgg ttttatacac ggtcttgctc tgttgcccag gctggagtgc agtagtccaa
     1861 tcatggctaa gtgcagcgtc aacttctggg ctcaagcaat tctcccacct cagcctccag
     1921 agaagctagc actgcagatg catgccacca caagggtaac tttgtatttt ttgtagcgac
     1981 aggatctcac gatgttgccc aggctagtct tgaactcctg gcctcaagca atcctgccat
     2041 ctcggcctcc ccaaatgctg ggattacagg catgagccgt gacaccggcc aagttctatt
     2101 ctgaagatga ggaagctaag ttatgaagag attaagttaa ttagccaaag gtcttgtcac
     2161 tgacatggaa aagctagaat tgaacctatt ctttaaatta gagctgggga taagaagtac
     2221 acatttctca gggcctgtga agaggggaag tcagtctgtt ccagaaaggg aggaagagct
     2281 ggattgaaaa caagagacac attctagcta gcaccaatgg agtgagccca gaactagaaa
     2341 tatgctgtct ctatgggttt aggaggaatc acccagtgtc agagaattag ggatacacct
     2401 tatgagtttg gccaaactgg ctgtagtatt tctgtgtttt ttagtagacg tgttaatacg
     2461 aaagagtgtg tcacattcaa atattaaatt gggccaggca cagtgcctca cacctgtaat
     2521 tccaaaattt ggggaggccg tgacaggagg atcactggag tccaggagtt caagaccagc
     2581 ctgggcaaca aagtgaaacc ttatctctac aaaaaaatta aaaaattagc tagacatggc
     2641 tgcatgtgcc tgtagtacca gctactcaag aggctgaggt gggaggatca cttgagccca
     2701 ggaggttgag gctgcagtga gcagtaattg tgccactgcc ctccagcctg agtgacagag
     2761 tgagaccttg tcccaaaaaa ttaaattaaa ttaaattaaa cgctttgcaa aaaaaaaaaa
     2821 ctacccatta aatccgggtt cctgggttat attagaagtt ccggccgggt gcagtggctc
     2881 atgcctataa tcccagcact ttgggaggct gaggtgggtg gatcacgagg tcaggagttt
     2941 gagaccagcc tgaccaacat agtgaaaccc cgtctctact aaaaatacaa aaaattaccc
     3001 gggcgtggtg gcacatgcct gtaatcccag ctactcagga ggctgaggca ggagaattgc
     3061 ttgaatccag gaggcgaagg ttgcagtgag ccgagattgg gccatggcac tctagcctgg
     3121 gtgacagagc gagactctgt ctcaaaaaaa caataaaaaa aagaagaaga agttctaggg
     3181 cacttaacta ctaatatctg ggggggcatt ctttgcctcc cctataaaat gtaaagggat
     3241 cccaaatgtt aaacttccac ccccatcacc tcgagttgtc atggaaaaga gaatgttata
     3301 ccctgtttat accccacgtg tcctggggtg tagctagtgc tttctagctg atcatgattc
     3361 tgaagatacc ttggaatagg ctgggaaaca ggtaaaaatc agactgtgtg agtttgaaag
     3421 agtgcaggaa aggtggcttc tgggttatat ccaagatgtg tcattgtggt tccccgtggt
     3481 gatcagaaaa gcgagccagc ttgctgtagt ttggttgacc aatgtccatg cattctgaaa
     3541 ttaaaataag ctttgtgatt actccttcac tttatttagt agtagtcatt gtgtaaattt
     3601 gaaacaaccg gagaagttgg gcttagtgtt gtttttatac atggcatatt ctagaccctg
     3661 agggccaggt cagggtgagg tgagggagac acctcacctc ctttaaacat tatttaaaat
     3721 gttgacattt tgttcaccgt ggattttttt tgcattcatt ttggtttttt aaaatattgc
     3781 attaggccgg gtgtggtggc tcactcctgt aatcccagca ctttgggaag ccgaggcagg
     3841 tggatcattt gaagtcagga gttcgacacc agcctggcca acatggtgaa accctgtgtc
     3901 tactaaaaat acaaaaatta gctgggtgtg gtgtgcgtgt gtggtcccag ctactcgaga
     3961 ggctgaggca ggataattgc tttaaccggg gagacagatg ttgcagtgag tcaagatcgt
     4021 gccactgcac tccagcctgg gcgacaagag tgacactcca tctaaaaaaa aaaaaaaaaa
     4081 aaaaaaagca taaacgtaat ttatcttgat tgctgaattt tttgatggcc ccttacattg
     4141 ggtgctcaaa gtgactgcct tatctcccca caaaggaaaa acaaaacgct tgcatttttc
     4201 cctcaaaaga ctaaaaaata gaagccatca ttaatttaaa ataggattaa gtgccaaaag
     4261 ttcagtgaga acacagcagg tctgggggtg tcaactctcc atgccccagg tgtggaaaca
     4321 gtccccctct gcctgctagc tttggccagc cccctccccc gggaccctgt cctcatctcc
     4381 ccccattaat cagccttcac tttctgaagt ctcacacctc ctgcattcct cactgtttgc
     4441 caagccttga taatggtccc ctctgtgatt ggtatcccca aggcaggacc agagcccaga
     4501 gaggtgatta aggggcagga gatcccaggc ttcagggacc tgctccctga gttccttgga
     4561 gcccagtgtt gtagtcctaa ttgctagaga ccaaggccag cttgaaagat gtgatctgtg
     4621 tccttcactt cttttgttct tttcttcccc ggtgctggcc taacctcctt gcatgtggat
     4681 aaaaattcaa tcccctcctc atggaggttg tccctcttgt ttcaccccca aaatcctcca
     4741 gtttctgtct gccaagcagc tagaaggagc tttttttttt tttttttttt tttgagatgg
     4801 aatctagctc tgtctcccag cctggagtgc agtggtgcta tctcggctca ctgcagcctc
     4861 tgcctcccgg gttcaagcga tttttctgcc tcagcttccc aagtagctgg gattgcaggc
     4921 acatgccacc acacccaact attttttgta tttttagtag agacggggtt tcgccatgtt
     4981 agccagactg gtctcggact cctgatttca ggtgatacta ccacctcggc ctcccaaggt
     5041 gccgggatta caggtgtgag ccaccacatc cagccagaag gatctttcta aagggaaact
     5101 ctgaaaaatc atccctctac ttaaaccttc tgtttctctt aggatacagt atagactcta
     5161 gtgtgatcat cagggctgcg tggccaggtc tatacttcat ccccaaattc attctttgac
     5221 cctatagccc aatgggctcc ctgctgtccc ggcagtaaac caagcacacc cggaccccag
     5281 gaaccttgca tctactcttt tttttttctt cagagattgg ggcatgaaat cttccattcc
     5341 tctttgcatt gctggtttgc attattgggg gtattagaag acactggctt ttggcaagag
     5401 gagtctagat tccaggtttg gtgctaactg acaaagtatc ttgcggcagg tagaaataat
     5461 cagttttctt gcattttttc cctcgaaaga ctaaaaaatg gaagccatca ttaatttaaa
     5521 acaggattaa gtgccaaaag ttcagtgaaa acacagccac atctgtgttt tctctgtgtt
     5581 agtatctcac acacaattcc actccaaata catccctgat gctgatgaaa cgttatgtat
     5641 ataattgtat gttgtctaca aggtaaacct taaaagtatg acaaatagag gttactatat
     5701 gttcattgaa tgtctttttt tttttttgag agagagagag agagagaaat aagatctcac
     5761 tctgtcaccc atgctggagt gcagtggcat gatctcagct cactgcaacc ttcacctccc
     5821 aggttcaaac aattctcctg tgtcagactc cctggaatta caggcgtgcc accatgcctg
     5881 gctaaatttt ttttgtgttt ttagtacaga cagggtttcg ccatgttgcc caggatggtt
     5941 tcaaactcct ggcctcaagt gacctgccca ccttggcctc ccaaagttct ggggttacag
     6001 gcatgagcca ccacgcctgg ccccttgcat ctactcttgc ttttgcctgt aatacccttc
     6061 ccccacctgc tcgcacactc ccttcggtct tcctgagggt cacctcctca gaaagctctt
     6121 tcctgacttc tccacactcg gtcaccaccc ctattacaag ccctcatagc aactcactta
     6181 ggtccctcag agcttttatc acaagttccc atatatatta attggtgcaa ttatttgttt
     6241 atttatgtct tcctctttct agggcagaca ttgagatcgg gatgtcttat ctaattggtt
     6301 caaccctgtc ttcccagtgg tgcctagaaa aatgcctggt acacagtagg tgctcaataa
     6361 atgctttttg agtgaa
//
LOCUS       NM_001004469             930 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily J member 5
            (OR10J5), mRNA.
ACCESSION   NM_001004469
VERSION     NM_001004469.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 930)
  AUTHORS   Tong T, Ryu SE, Min Y, de March CA, Bushdid C, Golebiowski J, Moon C
            and Park T.
  TITLE     Olfactory receptor 10J5 responding to alpha-cedrene regulates
            hepatic steatosis via the cAMP-PKA pathway
  JOURNAL   Sci Rep 7 (1), 9471 (2017)
   PUBMED   28842679
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 930)
  AUTHORS   Kim SH, Yoon YC, Lee AS, Kang N, Koo J, Rhyu MR and Park JH.
  TITLE     Expression of human olfactory receptor 10J5 in heart aorta, coronary
            artery, and endothelial cells and its functional role in
            angiogenesis
  JOURNAL   Biochem Biophys Res Commun 460 (2), 404-408 (2015)
   PUBMED   25791473
  REMARK    GeneRIF: data demonstrate the physiological role of OR10J5 in
            angiogenesis and represent roles of ORs in HUVEC cells
REFERENCE   3  (bases 1 to 930)
  AUTHORS   Reiner AP, Beleza S, Franceschini N, Auer PL, Robinson JG,
            Kooperberg C, Peters U and Tang H.
  TITLE     Genome-wide association and population genetic analysis of
            C-reactive protein in African American and Hispanic American women
  JOURNAL   Am J Hum Genet 91 (3), 502-512 (2012)
   PUBMED   22939635
REFERENCE   4  (bases 1 to 930)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   5  (bases 1 to 930)
  AUTHORS   Yang Q, Kathiresan S, Lin JP, Tofler GH and O'Donnell CJ.
  TITLE     Genome-wide association and linkage analyses of hemostatic factors
            and hematological phenotypes in the Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S12 (2007)
   PUBMED   17903294
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 930)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   7  (bases 1 to 930)
  AUTHORS   Gilad Y, Bustamante CD, Lancet D and Paabo S.
  TITLE     Natural selection on the olfactory receptor gene family in humans
            and chimpanzees
  JOURNAL   Am J Hum Genet 73 (3), 489-501 (2003)
   PUBMED   12908129
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC137026.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000334857.3/ ENSP00000334441.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL606752.11.
            On Sep 18, 2004 this sequence version replaced XM_060458.4.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..930
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.2"
     gene            1..930
                     /gene="OR10J5"
                     /gene_synonym="MOR23; OLFR16; OR1-28"
                     /note="olfactory receptor family 10 subfamily J member 5"
                     /db_xref="GeneID:127385"
                     /db_xref="HGNC:HGNC:14993"
                     /db_xref="MIM:619546"
     CDS             1..930
                     /gene="OR10J5"
                     /gene_synonym="MOR23; OLFR16; OR1-28"
                     /note="olfactory receptor OR1-28"
                     /codon_start=1
                     /product="olfactory receptor 10J5"
                     /protein_id="NP_001004469.1"
                     /db_xref="CCDS:CCDS30910.1"
                     /db_xref="GeneID:127385"
                     /db_xref="HGNC:HGNC:14993"
                     /db_xref="MIM:619546"
                     /translation="MKRKNFTEVSEFIFLGFSSFGKHQITLFVVFLTVYILTLVANIII
                     VTIICIDHHLHTPMYFFLSMLASSETVYTLVIVPRMLLSLIFHNQPISLAGCATQMFFF
                     VILATNNCFLLTAMGYDRYVAICRPLRYTVIMSKGLCAQLVCGSFGIGLTMAVLHVTAM
                     FNLPFCGTVVDHFFCDIYPVMKLSCIDTTINEIINYGVSSFVIFVPIGLIFISYVLVIS
                     SILQIASAEGRKKTFATCVSHLTVVIVHCGCASIAYLKPKSESSIEKDLVLSVTYTIIT
                     PLLNPVVYSLRNKEVKDALCRVVGRNIS"
     misc_feature    13..15
                     /gene="OR10J5"
                     /gene_synonym="MOR23; OLFR16; OR1-28"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NHC4.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR10J5"
                     /gene_synonym="MOR23; OLFR16; OR1-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC4.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR10J5"
                     /gene_synonym="MOR23; OLFR16; OR1-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC4.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR10J5"
                     /gene_synonym="MOR23; OLFR16; OR1-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC4.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR10J5"
                     /gene_synonym="MOR23; OLFR16; OR1-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC4.1);
                     transmembrane region"
     misc_feature    589..648
                     /gene="OR10J5"
                     /gene_synonym="MOR23; OLFR16; OR1-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC4.1);
                     transmembrane region"
     misc_feature    709..771
                     /gene="OR10J5"
                     /gene_synonym="MOR23; OLFR16; OR1-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC4.1);
                     transmembrane region"
     misc_feature    811..873
                     /gene="OR10J5"
                     /gene_synonym="MOR23; OLFR16; OR1-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC4.1);
                     transmembrane region"
ORIGIN
        1 atgaagagaa agaacttcac agaagtgtca gaattcattt tcttgggatt ttctagcttt
       61 ggaaagcatc agataaccct ctttgtggtt ttcctaactg tctacatttt aactctggtt
      121 gctaacatca tcattgtgac tatcatctgc attgaccatc atctccacac tcccatgtat
      181 ttcttcctaa gcatgctggc tagttcagag acggtgtaca cactggtcat tgtgccacga
      241 atgcttttga gcctcatttt tcataaccaa cctatctcct tggcaggctg tgctacacaa
      301 atgttctttt ttgttatctt ggccactaat aattgcttcc tgcttactgc aatggggtat
      361 gaccgctatg tggccatctg cagacccctg agatacactg tcatcatgag caagggacta
      421 tgtgcccagc tggtgtgtgg gtcctttggc attggtctga ctatggcagt tctccatgtg
      481 acagccatgt tcaatttgcc gttctgtggc acagtggtag accacttctt ttgtgacatt
      541 tacccagtca tgaaactttc ttgcattgat accactatca atgagataat aaattatggt
      601 gtaagttcat ttgtgatttt tgtgcccata ggcctgatat ttatctccta tgtccttgtc
      661 atctcttcca tccttcaaat tgcctcagct gagggccgga agaagacctt tgccacctgt
      721 gtctcccacc tcactgtggt tattgtccac tgtggctgtg cctccattgc ctacctcaag
      781 ccgaagtcag aaagttcaat agaaaaagac cttgttctct cagtgacgta caccatcatc
      841 actcccttgc tgaaccctgt tgtttacagt ctgagaaaca aggaggtaaa ggatgcccta
      901 tgcagagttg tgggcagaaa tatttcttaa
//
LOCUS       NM_001004470            6994 bp    mRNA    linear   PRI 22-JAN-2023
DEFINITION  Homo sapiens ST8 alpha-N-acetyl-neuraminide
            alpha-2,8-sialyltransferase 6 (ST8SIA6), transcript variant 1, mRNA.
ACCESSION   NM_001004470
VERSION     NM_001004470.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6994)
  AUTHORS   Feng T, Yao Y, Luo L, Zou H, Xiang G, Wei L, Yang Q, Shi Y, Huang X
            and Lai C.
  TITLE     ST8SIA6-AS1 contributes to hepatocellular carcinoma progression by
            targeting miR-142-3p/HMGA1 axis
  JOURNAL   Sci Rep 13 (1), 650 (2023)
   PUBMED   36635290
  REMARK    GeneRIF: ST8SIA6-AS1 contributes to hepatocellular carcinoma
            progression by targeting miR-142-3p/HMGA1 axis. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 6994)
  AUTHORS   Hatanaka R, Araki E, Hane M, Go S, Wu D, Kitajima K and Sato C.
  TITLE     The alpha2,8-sialyltransferase 6 (St8sia6) localizes in the ER and
            enhances the anchorage-independent cell growth in cancer
  JOURNAL   Biochem Biophys Res Commun 608, 52-58 (2022)
   PUBMED   35390672
  REMARK    GeneRIF: The alpha2,8-sialyltransferase 6 (St8sia6) localizes in the
            ER and enhances the anchorage-independent cell growth in cancer.
REFERENCE   3  (bases 1 to 6994)
  AUTHORS   Kuai J, Zheng L, Yi X, Liu Z, Qiu B, Lu Z and Jiang Y.
  TITLE     ST8SIA6-AS1 promotes the development of hepatocellular carcinoma
            cells through miR-338-3p/NONO Axis
  JOURNAL   Dig Liver Dis 53 (9), 1192-1200 (2021)
   PUBMED   33722502
  REMARK    GeneRIF: ST8SIA6-AS1 promotes the development of hepatocellular
            carcinoma cells through miR-338-3p/NONO Axis.
REFERENCE   4  (bases 1 to 6994)
  AUTHORS   Chen Z, Huang J, Feng Y, Li Z and Jiang Y.
  TITLE     Profiling of specific long non-coding RNA signatures identifies
            ST8SIA6-AS1 AS a novel target for breast cancer
  JOURNAL   J Gene Med 23 (2), e3286 (2021)
   PUBMED   33037712
  REMARK    GeneRIF: Profiling of specific long non-coding RNA signatures
            identifies ST8SIA6-AS1 AS a novel target for breast cancer.
REFERENCE   5  (bases 1 to 6994)
  AUTHORS   Qin,S.J., Zhou,H.Z., Xu,N.S., Yang,H.C. and Chen,P.X.
  TITLE     The Diagnostic Value of Serum ST8SIA6-AS1 as Biomarker in
            Hepatocellular Carcinoma
  JOURNAL   Clin Lab 66 (12) (2020)
   PUBMED   33337846
  REMARK    GeneRIF: The Diagnostic Value of Serum ST8SIA6-AS1 as Biomarker in
            Hepatocellular Carcinoma.
REFERENCE   6  (bases 1 to 6994)
  AUTHORS   Zhang X, Dong W, Zhou H, Li H, Wang N, Miao X and Jia L.
  TITLE     alpha-2,8-Sialyltransferase Is Involved in the Development of
            Multidrug Resistance via PI3K/Akt Pathway in Human Chronic Myeloid
            Leukemia
  JOURNAL   IUBMB Life 67 (2), 77-87 (2015)
   PUBMED   25855199
  REMARK    GeneRIF: ST8SIA6 gene is involved in the development of multidrug
            resistance via PI3K/Akt pathway in chronic myeloid leukemia.
REFERENCE   7  (bases 1 to 6994)
  AUTHORS   Yang JJ, Cheng C, Yang W, Pei D, Cao X, Fan Y, Pounds SB, Neale G,
            Trevino LR, French D, Campana D, Downing JR, Evans WE, Pui CH,
            Devidas M, Bowman WP, Camitta BM, Willman CL, Davies SM, Borowitz
            MJ, Carroll WL, Hunger SP and Relling MV.
  TITLE     Genome-wide interrogation of germline genetic variation associated
            with treatment response in childhood acute lymphoblastic leukemia
  JOURNAL   JAMA 301 (4), 393-403 (2009)
   PUBMED   19176441
REFERENCE   8  (bases 1 to 6994)
  AUTHORS   Avril T, North SJ, Haslam SM, Willison HJ and Crocker PR.
  TITLE     Probing the cis interactions of the inhibitory receptor Siglec-7
            with alpha2,8-disialylated ligands on natural killer cells and other
            leukocytes using glycan-specific antibodies and by analysis of
            alpha2,8-sialyltransferase gene expression
  JOURNAL   J Leukoc Biol 80 (4), 787-796 (2006)
   PUBMED   16857734
  REMARK    GeneRIF: NK cells consistently expressed mRNA encoding ST8Sia VI,
            which creates alpha2,8-linked disialic acids on O-linked glycans of
            glycoproteins and NK cells variably expressed high levels of ST8Sia
            V mRNA required for GT3 expression.
REFERENCE   9  (bases 1 to 6994)
  AUTHORS   Harduin-Lepers A, Mollicone R, Delannoy P and Oriol R.
  TITLE     The animal sialyltransferases and sialyltransferase-related genes: a
            phylogenetic approach
  JOURNAL   Glycobiology 15 (8), 805-817 (2005)
   PUBMED   15843597
  REMARK    Erratum:[Glycobiology. 2005 Sep;15(9):21G]
REFERENCE   10  (bases 1 to 6994)
  AUTHORS   Takashima S, Ishida HK, Inazu T, Ando T, Ishida H, Kiso M, Tsuji S
            and Tsujimoto M.
  TITLE     Molecular cloning and expression of a sixth type of alpha
            2,8-sialyltransferase (ST8Sia VI) that sialylates O-glycans
  JOURNAL   J Biol Chem 277 (27), 24030-24038 (2002)
   PUBMED   11980897
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC137102.1, AJ621583.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968189, SAMEA1968540
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000377602.5/ ENSP00000366827.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL160289.14, BC137103.1 and
            AL158164.15.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001004470.2.
            Summary: This gene encodes a member of the glycosyltransferase 29
            protein family. Members of this protein family synthesize
            sialylglycoconjugates. Sialylation may contribute to multidrug
            resistance in cancer cells. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Sep 2016].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6994
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.33"
     gene            1..6994
                     /gene="ST8SIA6"
                     /gene_synonym="SIA8F; SIAT8-F; SIAT8F; ST8SIA-VI; ST8SiaVI"
                     /note="ST8 alpha-N-acetyl-neuraminide
                     alpha-2,8-sialyltransferase 6"
                     /db_xref="GeneID:338596"
                     /db_xref="HGNC:HGNC:23317"
                     /db_xref="MIM:610139"
     misc_feature    212..214
                     /gene="ST8SIA6"
                     /gene_synonym="SIA8F; SIAT8-F; SIAT8F; ST8SIA-VI; ST8SiaVI"
                     /note="upstream in-frame stop codon"
     CDS             341..1537
                     /gene="ST8SIA6"
                     /gene_synonym="SIA8F; SIAT8-F; SIAT8F; ST8SIA-VI; ST8SiaVI"
                     /EC_number="2.4.99.-"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; sialyltransferase 8F (alpha-2, 8-sialyltransferase);
                     sialyltransferase St8Sia VI; ST8 alpha-N-acetylneuraminate
                     alpha-2,8-sialyltransferase 6; alpha-2,8-sialyltransferase
                     8F"
                     /codon_start=1
                     /product="alpha-2,8-sialyltransferase 8F isoform 1
                     precursor"
                     /protein_id="NP_001004470.1"
                     /db_xref="CCDS:CCDS31158.1"
                     /db_xref="GeneID:338596"
                     /db_xref="HGNC:HGNC:23317"
                     /db_xref="MIM:610139"
                     /translation="MRPGGALLALLASLLLLLLLRLLWCPADAPGRARILVEESREATH
                     GTPAALRTLRSPATAVPRATNSTYLNEKSLQLTEKCKNLQYGIESFSNKTKGYSENDYL
                     QIITDIQSCPWKRQAEEYANFRAKLASCCDAVQNFVVSQNNTPVGTNMSYEVESKKEIP
                     IKKNIFHMFPVSQPFVDYPYNQCAVVGNGGILNKSLCGTEIDKSDFVFRCNLPPTTGDV
                     SKDVGSKTNLVTINPSIITLKYGNLKEKKALFLEDIATYGDAFFLLPAFSFRANTGTSF
                     KVYYTLEESKARQKVLFFHPKYLKDLALFWRTKGVTAYRLSTGLMITSVAVELCKNVKL
                     YGFWPFSKTVEDIPVSHHYYDNKLPKHGFHQMPKEYSQILQLHMKGILKLQFSKCEVA"
     sig_peptide     341..427
                     /gene="ST8SIA6"
                     /gene_synonym="SIA8F; SIAT8-F; SIAT8F; ST8SIA-VI; ST8SiaVI"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    350..412
                     /gene="ST8SIA6"
                     /gene_synonym="SIA8F; SIAT8-F; SIAT8F; ST8SIA-VI; ST8SiaVI"
                     /note="propagated from UniProtKB/Swiss-Prot (P61647.1);
                     transmembrane region"
     misc_feature    536..538
                     /gene="ST8SIA6"
                     /gene_synonym="SIA8F; SIAT8-F; SIAT8F; ST8SIA-VI; ST8SiaVI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P61647.1); glycosylation site"
     misc_feature    617..619
                     /gene="ST8SIA6"
                     /gene_synonym="SIA8F; SIAT8-F; SIAT8F; ST8SIA-VI; ST8SiaVI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P61647.1); glycosylation site"
     misc_feature    791..793
                     /gene="ST8SIA6"
                     /gene_synonym="SIA8F; SIAT8-F; SIAT8F; ST8SIA-VI; ST8SiaVI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P61647.1); glycosylation site"
     misc_feature    926..928
                     /gene="ST8SIA6"
                     /gene_synonym="SIA8F; SIAT8-F; SIAT8F; ST8SIA-VI; ST8SiaVI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P61647.1); glycosylation site"
     regulatory      6972..6977
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ST8SIA6"
                     /gene_synonym="SIA8F; SIAT8-F; SIAT8F; ST8SIA-VI; ST8SiaVI"
                     /note="hexamer: AATAAA"
     polyA_site      6994
                     /gene="ST8SIA6"
                     /gene_synonym="SIA8F; SIAT8-F; SIAT8F; ST8SIA-VI; ST8SiaVI"
                     /note="major polyA site"
ORIGIN
        1 agcagcagtg gcagcggcga ccggagcccg cagcagctcc gagcgcctcc gggaggacag
       61 gcggcgagct cggcgaatcg tcatctgcca gccgatcgcg gcgctccgcg ggccggggcc
      121 gggagcccgg ggcgagcccg aacgcggctt cttctccgcc cgccgcggag actctgccgg
      181 gtgggctgcg ggcgcccctc gctgccgcct gtgaacgctg tgggtgcgcg gggctgcggc
      241 cacggcggcg gtggcggcgg cggcgggagc cgcgagtcgg ggccgcccgg gctgtgcttc
      301 gccccggcag cagcggtggc ggcggcgcct gtggctcagg atgcggccgg ggggcgcact
      361 gctcgccctg ctcgccagcc tgctgctgct gctgctgctg cgcctgctct ggtgcccggc
      421 agacgcgccc ggccgcgcca ggattctggt ggaggaaagc agggaggcca cccacggcac
      481 ccccgcagcg ctgaggacgc tccggagccc ggcgaccgcg gtaccgcgcg ccactaacag
      541 cacatatctg aatgagaagt cgctccaact gacggagaaa tgcaaaaatc tgcaatatgg
      601 cattgagtct ttctctaaca aaacgaaagg gtattcagag aacgactacc ttcagattat
      661 cacagatata cagagttgtc catggaaacg gcaagcagaa gaatatgcaa attttagagc
      721 caaacttgct tcctgctgtg atgctgttca aaactttgtt gtttctcaga ataacactcc
      781 agttgggact aatatgagtt acgaggtgga aagcaaaaaa gaaatcccaa ttaagaagaa
      841 catttttcat atgtttccag tgtcccagcc ttttgtggac tacccttata atcagtgtgc
      901 agtggtcgga aatgggggaa ttctgaataa gtctctctgt ggaactgaaa tagataaatc
      961 cgacttcgtt tttaggtgta acctaccccc aaccacagga gatgttagta aagatgttgg
     1021 cagtaaaaca aatcttgtga ctataaatcc aagcatcata actctgaaat atgggaactt
     1081 aaaggaaaaa aaagccctat ttctggagga cattgcaacc tatggagatg cattttttct
     1141 tctgccagca ttttccttca gggccaacac gggtacctct ttcaaagtat actacacgct
     1201 cgaagagtct aaagcaagac aaaaggttct atttttccat cccaagtacc tgaaagatct
     1261 ggcccttttc tggagaacta aaggtgtgac tgcataccgc ttgtccaccg gcttgatgat
     1321 cacaagtgtt gcagtggaac tgtgtaaaaa tgtgaagctg tatggattct ggcccttctc
     1381 taaaactgta gaagacatac ctgtcagcca tcactattat gacaacaagc tacctaaaca
     1441 tggtttccat cagatgccca aagaatacag ccagatcctc caacttcaca tgaaaggaat
     1501 cctcaaactg caatttagca aatgtgaagt cgcctaaaca aagtatctta aaatgggaat
     1561 aattttaata taatgcagta ggtgattaac aatgtctcca aacaccaaag gaggtggcta
     1621 aagagtattt tgagatgagc cccaaaattt ggtttgacca aagcttcccc actcattttg
     1681 caatgatggc aagtcattca atccttctca tcttcatttt ttctccttat aacatggaca
     1741 ccatatctga ctcatacaaa tttttataat ttatgaaaat tattggcatg gcctttggtg
     1801 tgaggtaggg actcaaagaa tatttctttc ttactattta taccagccat ctccaccttc
     1861 accagaccga taataaaagc atgctttctt ggagatctct tctaaagaga atagctgcat
     1921 taccagtatc cattggattt ctttctgtgg caggtctcta tcaataatat ccttcccatt
     1981 tttctgtctc aaagactgca tgcaagaaaa ttatatactt aagcaaaaag ttcttgatca
     2041 ttcgggaatg aaattcttct ctgagtatgg cagtatgcct gcttctgatt aaattcactt
     2101 ttaatagtag ctgtgatgat attttggttg aatttaagcc atttattttc ctcttatgtc
     2161 tacatttctt catcacttaa taattttatt ttaacttcct gcctcattct tacacttttt
     2221 tctctctcac ttatacgata tacttcaagg acgtgaacag ttacaatacc cagtctttct
     2281 tacctgttgt cttgcctgtg gggtcactca ctcaatttta ttttaaaatt actgaataac
     2341 tacttcatgc caggccctgc accaggctct gtgagaggac aagaaggatt attgcctctt
     2401 gtaggagaaa acagatgtgc atatcattaa ttatgatggg gtatgataag tattacaatg
     2461 acaaaagcta tgaataaagt gctacaagga acagaagcag ggataattaa atccatttca
     2521 gtggaatcta tttcaatgta caatagtctc ccctaatctg cagatatggg aagaccccct
     2581 gtggatgcct gaaaccattg atgatattag aaatatgtaa ttgattagta aaagtaacaa
     2641 aatatactga aataattaaa tatacaatgt ggggacttta tatgctattt taataaaact
     2701 tacatatagt taggacattt agagcttact tttttttccc atataatatc ctatcttaaa
     2761 aatttttctt tagaacatca aaacagaatc tctagtatca ctgatatgga tttcagaaat
     2821 attccaaatg gtgtgagatc aaacagcata gtgataccca tgttccagta aaagcttagg
     2881 agaaaaagaa tgtttgcggg ttttcttttg tggagaaaat tgtagacatt tccaagttaa
     2941 cacatctgaa gtttctggtt cgacatctgt gttgccatcc taaaagcacg tgtgaaattt
     3001 tacaacaatc ctacctagat tcacgttagc caaaaatctt tggctaaaca gacaccccga
     3061 gatttcataa agtgtgttat agtcagaatt ggtggtaatt aatctacaaa tctgcaaaat
     3121 agtgttcata gtttttcttt ttattttgat cttggtgaaa aacttgcagt aactcaccat
     3181 tacagagcga caagaactgt gacgcatgtt ttatgattta catagctgat gtggtgtatt
     3241 atcgatatcc ataatctgtc atatttagac acattcattg tgacacatat aacatgtgca
     3301 ttctttttat ctttttctca agtgggtcta tagttgtgat ttcacagcag attggggttg
     3361 ttggccattg tttgaagctc tcctactctc tttctagcat agtcagtgtg ttgcagagaa
     3421 ctaaagggag taaaagacac agtgcctcat tgaatcctaa cattttcttc ctggtagggc
     3481 atatatccca ccttccatat atcctgctgt gaggtgccaa taatgttctt ttgttccaaa
     3541 acagaacatt acttagaact ttctaaaata tgatagaaca tgaatgttta caatacagca
     3601 tgtcagctat gtaaactgta aaacgtaagt cacagttctt tttgttctgt attggtgaat
     3661 cattgcaaat ttttcaccaa gtgcaaaaca aaaagaaaaa ctataaactc catcttgtag
     3721 atttgtagat tcgccacaac caagtctgac tgtgacactc ccaagaaatc tgtatgtaat
     3781 cagcattgct taaatattgt tagatctaat gtgatcttct gctcttaaaa ctcaagtaca
     3841 tctaagggca ttgagaatgg aaagtctgag ttctggtact agacaagagc agccctttag
     3901 gccaggcgca atggctcaca cctgtaatcc cagcactttg ggaggccaag gtgggtgggt
     3961 cacttgaggc caggagtttg agactagcct gggcaacata gtgagtaccc ttctctacaa
     4021 aaaacaaaaa aattagctga gcatagtggc gtgcacctgt ggtcccagct acttgggagg
     4081 ctaaggaggg aggttcactg gagcccagga ggtagaggct gcagtgagct gtgatcttac
     4141 cactgcattc tagcctgtgt gacagagtga gaccctgtct caaaaaagaa aaaaaaaaag
     4201 tagcccttta gttaggattc tagctcataa cgctgcatac taccagtttc taagagaaat
     4261 actagcttgc tggattctat tttccacttg ttgttcagcc tcattgagca atgaaacaga
     4321 ataacaagat tccaatataa ttttcagcca aatccaaagg caaggcagaa atattcattt
     4381 aagtatatag tccatagtac tctgtggtcc ctgcaaaggg cttcatgatc aattgcatag
     4441 tgttaatttt tgcgcagtgt aataatcctc gaacatcctt gaagtctctg gtgcttttcc
     4501 cttggaacaa aaggcaatga caaatagatc atggctttca ctaaaggata tttccttctt
     4561 catgtaagtc ctaacccagt aactgcgtgg gctctcagcc aggtaatcag tcaaaaagtc
     4621 tttttttgag gactctctgt agaatacaga attaagcagc aaatcagacc tgtgtttgcc
     4681 taaatttttc cttgcttata aaaaatttac cagctaagta ttatgtaatg tcaagtaccg
     4741 taaatcactc catgaattag gaagctttgg gaaaagtgga aaattttgtg gaaaacaggt
     4801 ccactaacat cctaaacagc tactgcagaa gtatagttaa gatgtgatat ataatatatt
     4861 gtgatcttca agacatttta tttatctaac atgacatgga aacacattat tatgccatta
     4921 aaaattgaag gcattgtagg aattcatctg atatatctga tgcacttgat ctgataaatc
     4981 cacttgaggc tgctaggagt gttgaagatt tcctatttac atgtggcttc agaaggctga
     5041 tcccatagcg aggaacagtg tcaccagtac cctcctgaga gtggaaaggc aagaatattt
     5101 ctcatggtct ttcttatttt gggtcatcac tcttccagaa gcattcttct ttttataaaa
     5161 aaaatgtggg tgatatatga taaagatgcg ctacttatgt aatggagaca gggcaaactc
     5221 tttagcagat aatattgaaa cattggctca ctctatggag aaaaataaat gcctacattg
     5281 caccatataa aaagttgggc tccagaggga tgaaaacgat ggattaaaaa gaaaacttta
     5341 aagctcatag aagaaaatgt aggagaatta tgtttgagat acaggtgagg aactgtactt
     5401 cttcaacatg acccaaaaat atctttttaa atagttgggt taagaaagga tggctatgac
     5461 tgtattaaaa tgaaagagtt ctagtcagtg aatgacacct taaagttaat aggctgggga
     5521 cagactgaaa tagcttttag taatgcataa aattaatgac attaatagag agacattcca
     5581 aggaattgta aatcaacaag taaaagacag gaaactcaat ataaaaatga acaaaagata
     5641 agaatgtgat ttacaaaggg gaaagctgag tagctaataa gaataggaag tgatactcaa
     5701 atttaccagt aacctgagaa atgcaaatga aagtgagata ctacatccat tgcattggta
     5761 aaaatgagta aggtcattaa cttcaagtgt ggaagtataa gctgattgaa tcattttgga
     5821 aagcaaccta ggagtactga gttagtaaaa ttcatcatat gtctgtccta tagtccagta
     5881 attgcacttt tgcatataca gccaagagga cctgttctga tccacacaaa aaaacaagta
     5941 ttaaggtatt tattccatta tggtttgcgg tagtaagtag acaaattgga ctcacagata
     6001 tctgtctctt cggaagtcag tgaactaact tgactggatc catagtgtgg aatatgatac
     6061 agcagttaga agcaacttac tggacatata tacagaaata agggtatgtc ctttaaattt
     6121 agcataaagg gaaaacaaaa gctttagcac aatgccattt aattacttta aagcgtatgc
     6181 atgcatacat acaaacatat tcaaggctac gtgtcaaata caagaagggt acccattaag
     6241 aagagggtaa tcggagtggg tttagggata aagaagaaaa atatacatgt tattatattt
     6301 aatacagcaa gcctttgaca tatatattct tatactcaca tatgatattc ttactactac
     6361 ataaataaat atagaagctg actcaaaatt gtaagtaact tatataaggt tgcattatat
     6421 ataagagcag agctagtatt caactcatat gtctgactct aaagccaata ttatttccat
     6481 tatgcaatta taaaatgaaa agaaaaatca gtattatccc atgtcattga catgtaataa
     6541 atggcacata tttatgtaca tgcatatacc catgaaaccg tctctccaat taagacaatg
     6601 tatatattca ttaccccaaa atgttttctt gtgctacttt gtaatccctc cctcttcttc
     6661 ctccctgtcc atcccaccct cgtccccaga aaattcctaa tctgtttttc tatagacatt
     6721 tacattttta cactatagac tgtttacatt ttttagaatt ttatataaat ggaatcttac
     6781 tgtctgtact catttcttgt cttgcacttt tgctcgacat aataatatta aaactcattc
     6841 atgttgattg tgtatctgta gtttatgcct ttatttactg agtagaatta tgttatatgg
     6901 atggaccaca gttggcttat ctgctcattt gttgatgaac attttactat ctcctggttt
     6961 tggctattac aaataaaggt atcatgaaca ttaa
//
LOCUS       NM_001004471            1037 bp    mRNA    linear   PRI 17-APR-2023
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily Q member 1
            (OR10Q1), mRNA.
ACCESSION   NM_001004471
VERSION     NM_001004471.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1037)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC140731.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000316770.2/ ENSP00000314324.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP004247.2.
            On Jan 22, 2010 this sequence version replaced NM_001004471.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1037
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..1037
                     /gene="OR10Q1"
                     /gene_synonym="OR11-233"
                     /note="olfactory receptor family 10 subfamily Q member 1"
                     /db_xref="GeneID:219960"
                     /db_xref="HGNC:HGNC:15134"
     misc_feature    38..40
                     /gene="OR10Q1"
                     /gene_synonym="OR11-233"
                     /note="upstream in-frame stop codon"
     CDS             44..1003
                     /gene="OR10Q1"
                     /gene_synonym="OR11-233"
                     /note="olfactory receptor OR11-233"
                     /codon_start=1
                     /product="olfactory receptor 10Q1"
                     /protein_id="NP_001004471.1"
                     /db_xref="CCDS:CCDS31547.1"
                     /db_xref="GeneID:219960"
                     /db_xref="HGNC:HGNC:15134"
                     /translation="MPVGKLVFNQSEPTEFVFRAFTTATEFQVLLFLLFLLLYLMILCG
                     NTAIIWVVCTHSTLRTPMYFFLSNLSFLELCYTTVVVPLMLSNILGAQKPISLAGCGAQ
                     MFFFVTLGSTDCFLLAIMAYDRYVAICHPLHYTLIMTRELCTQMLGGALGLALFPSLQL
                     TALIFTLPFCGHHQEINHFLCDVPPVLRLACADIRVHQAVLYVVSILVLTIPFLLICVS
                     YVFITCAILSIRSAEGRRRAFSTCSFHLTVVLLQYGCCSLVYLRPRSSTSEDEDSQIAL
                     VYTFVTPLLNPLLYSLRNKDVKGALRSAIIRKAASDAN"
     misc_feature    68..70
                     /gene="OR10Q1"
                     /gene_synonym="OR11-233"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGQ4.1); glycosylation site"
     misc_feature    131..193
                     /gene="OR10Q1"
                     /gene_synonym="OR11-233"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ4.1);
                     transmembrane region"
     misc_feature    218..280
                     /gene="OR10Q1"
                     /gene_synonym="OR11-233"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ4.1);
                     transmembrane region"
     misc_feature    353..415
                     /gene="OR10Q1"
                     /gene_synonym="OR11-233"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ4.1);
                     transmembrane region"
     misc_feature    473..535
                     /gene="OR10Q1"
                     /gene_synonym="OR11-233"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ4.1);
                     transmembrane region"
     misc_feature    650..709
                     /gene="OR10Q1"
                     /gene_synonym="OR11-233"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ4.1);
                     transmembrane region"
     misc_feature    770..832
                     /gene="OR10Q1"
                     /gene_synonym="OR11-233"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ4.1);
                     transmembrane region"
     misc_feature    872..934
                     /gene="OR10Q1"
                     /gene_synonym="OR11-233"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ4.1);
                     transmembrane region"
ORIGIN
        1 cagccaagaa gagctcagcg cgtcctattc ttttgcataa gacatgcctg tggggaaact
       61 tgtcttcaac cagtctgagc ccactgagtt tgtgttccgt gcgttcacca cagccactga
      121 attccaggtt cttctcttcc ttctcttcct cctcctctac ttgatgatcc tctgtggcaa
      181 cacagccatc atctgggtgg tgtgcacaca cagcaccctc cgcaccccga tgtatttctt
      241 cctgtccaac ctgtctttcc tggaactctg ctacaccacc gtggtagtac ccttgatgct
      301 ttccaacatt ttgggggccc agaagcccat ttcgttggct ggatgtgggg cccaaatgtt
      361 cttctttgtc accctcggca gcacggactg tttcctcttg gcgatcatgg cctatgaccg
      421 ctatgtggct atctgccacc cgctgcacta caccctcatc atgacccgcg agctgtgcac
      481 gcagatgctg ggtggggccc tgggcctggc cctcttcccc tccctgcagc tcaccgcctt
      541 aatcttcacc ctgccctttt gcggccacca ccaggaaatc aaccacttcc tctgcgatgt
      601 gcctcccgtc ctgcgcctgg cctgcgctga catccgcgtg caccaggctg tcctctatgt
      661 cgtgagcatc ctcgtgctga ccatcccctt cctgctcatc tgcgtctcct acgtgttcat
      721 cacctgtgcc atcctgagca tccgttctgc cgagggccgc cgccgggcct tctccacctg
      781 ctccttccac ctcaccgtgg tcctgctgca gtatggctgc tgcagcctcg tgtacctgcg
      841 tcctcggtcc agcacctcag aggatgagga cagccaaatc gcgttggtct acacctttgt
      901 caccccctta ctcaaccctt tgctttacag ccttaggaac aaggatgtca aaggtgctct
      961 gaggagtgcc attatccgta aagcagcctc tgacgccaac tgaaggctta ggggcactgg
     1021 gctgggtgtc tgtctgt
//
LOCUS       NM_001004473            2124 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily K member 1
            (OR10K1), mRNA.
ACCESSION   NM_001004473
VERSION     NM_001004473.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2124)
  AUTHORS   Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M and
            Tokunaga K.
  TITLE     An approach based on a genome-wide association study reveals
            candidate loci for narcolepsy
  JOURNAL   Hum Genet 128 (4), 433-441 (2010)
   PUBMED   20677014
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 2124)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641535.1/ ENSP00000493025.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL365440.13.
            On Jul 28, 2020 this sequence version replaced NM_001004473.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..2124
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     gene            1..2124
                     /gene="OR10K1"
                     /gene_synonym="OR1-6"
                     /note="olfactory receptor family 10 subfamily K member 1"
                     /db_xref="GeneID:391109"
                     /db_xref="HGNC:HGNC:14693"
     misc_feature    201..203
                     /gene="OR10K1"
                     /gene_synonym="OR1-6"
                     /note="upstream in-frame stop codon"
     CDS             228..1169
                     /gene="OR10K1"
                     /gene_synonym="OR1-6"
                     /note="olfactory receptor OR1-6"
                     /codon_start=1
                     /product="olfactory receptor 10K1"
                     /protein_id="NP_001004473.1"
                     /db_xref="CCDS:CCDS30897.1"
                     /db_xref="GeneID:391109"
                     /db_xref="HGNC:HGNC:14693"
                     /translation="MEQVNKTVVREFVVLGFSSLARLQQLLFVIFLLLYLFTLGTNAII
                     ISTIVLDRALHTPMYFFLAILSCSEICYTFVIVPKMLVDLLSQKKTISFLGCAIQMFSF
                     LFFGSSHSFLLAAMGYDRYMAICNPLRYSVLMGHGVCMGLMAAACACGFTVSLVTTSLV
                     FHLPFHSSNQLHHFFCDISPVLKLASQHSGFSQLVIFMLGVFALVIPLLLILVSYIRII
                     SAILKIPSSVGRYKTFSTCASHLIVVTVHYSCASFIYLRPKTNYTSSQDTLISVSYTIL
                     TPLFNPMIYSLRNKEFKSALRRTIGQTFYPLS"
     misc_feature    240..242
                     /gene="OR10K1"
                     /gene_synonym="OR1-6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGX5.1); glycosylation site"
     misc_feature    303..365
                     /gene="OR10K1"
                     /gene_synonym="OR1-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX5.1);
                     transmembrane region"
     misc_feature    390..452
                     /gene="OR10K1"
                     /gene_synonym="OR1-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX5.1);
                     transmembrane region"
     misc_feature    525..587
                     /gene="OR10K1"
                     /gene_synonym="OR1-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX5.1);
                     transmembrane region"
     misc_feature    645..707
                     /gene="OR10K1"
                     /gene_synonym="OR1-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX5.1);
                     transmembrane region"
     misc_feature    819..878
                     /gene="OR10K1"
                     /gene_synonym="OR1-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX5.1);
                     transmembrane region"
     misc_feature    939..1001
                     /gene="OR10K1"
                     /gene_synonym="OR1-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX5.1);
                     transmembrane region"
     misc_feature    1020..1022
                     /gene="OR10K1"
                     /gene_synonym="OR1-6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGX5.1); glycosylation site"
     misc_feature    1041..1103
                     /gene="OR10K1"
                     /gene_synonym="OR1-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX5.1);
                     transmembrane region"
ORIGIN
        1 cttgaatgat gggtagtgtt tgagaaagcc tctttctgtg cctcccatgg agatcagtga
       61 tggcatttct gcaggcattt taatggggga atgaagaatt ccatcaaata tctggaaatg
      121 cctgccacct gcaaactttg tgtgaaattt cccgtacatt tccactctcc tttctggatc
      181 ctggtttcta cctctgtccc tgactctcct ttatagaagt gctctccatg gagcaagtca
      241 ataagactgt ggtgagagag ttcgtcgtcc tcggcttctc atccctggcc aggctgcagc
      301 agctgctctt tgttatcttc ctgctcctct acctgttcac tctgggcacc aatgcaatca
      361 tcatttccac cattgtgctg gacagagccc ttcatactcc catgtacttc ttccttgcca
      421 tcctttcttg ctctgagatt tgctatacct ttgtcattgt acccaagatg ctggttgacc
      481 tgctgtccca gaagaagacc atttctttcc tgggctgtgc catccaaatg ttttccttcc
      541 tcttctttgg ctcctctcac tccttcctgc tggcagccat gggctatgat cgctatatgg
      601 ccatctgtaa cccactgcgc tactcagtgc tcatgggaca tggggtgtgt atgggactaa
      661 tggctgctgc ctgtgcctgt ggcttcactg tctccctggt caccacctcc ctagtatttc
      721 atctgccctt ccactcctcc aaccagctcc atcacttctt ctgtgacatc tcccctgtcc
      781 ttaaactggc atctcagcac tccggcttca gtcagctggt catattcatg cttggtgtat
      841 ttgccttggt cattcctctg ctacttatcc tagtctccta catccgcatc atctctgcca
      901 ttctaaaaat cccttcctcc gttggaagat acaagacctt ctccacctgt gcctcccatc
      961 tcattgtggt aactgttcac tacagttgtg cctctttcat ctacttaagg cccaagacta
     1021 attacacttc aagccaagac accctaatat ctgtgtcata caccatcctt accccattgt
     1081 tcaatccaat gatttatagt ctgagaaata aggaattcaa atcagcccta cgaagaacaa
     1141 tcggccaaac tttctatcct cttagttaaa gagctatttt ttaaactact aatgcctagt
     1201 acatgccagg cagaacgtgt gttttataca ttttttttca tttaattgtc cagctccact
     1261 gtaacataag aacattttac atatgagaag aatgaggctc acagaagtta agacagtctg
     1321 gctttctact ctccatgata ctttaacaag actaatcaga tatgggaaca gagcacacag
     1381 ttccataaca aatttaatta tattttactg ctttaaatat tgctaattta aaaactaata
     1441 tgagagcaaa gatgcatcta aactgatgag agctgtgtct tgaagtagag agcttggata
     1501 catcaggaaa gaaaagatgt atccaaaaaa aaaaaaagaa agaaaaaaga aaaaaaaaag
     1561 gaaaacagca ggaaatccat ctatccgtac ttttcttttc ctaaagacaa cagaaaactt
     1621 tggtcccaca cattctgcta caaatcttgg tggtcctttt tgtccccaat tcatttcctt
     1681 aacctacata ttgaaatatc ttggccttta cttggggttg ttttgttctt cctttgtttg
     1741 aggtggaacc actttatggt tctcttcctg atgcacatgt atgtccttca catactagtg
     1801 tgtcttagcc cccacatttg ttcctgagac accatactaa tttgctctct tcaaggaagc
     1861 tactagcatt gcctacttgc tgaaatatct caagtaattc caagcaaagg gcttgagtta
     1921 atattaatag aaggctagat tcctagaatg accagaaaac tcatggaaaa ccctccagtg
     1981 actccctttg ccctacaaga taatgccaag ggtccttcat tgtcatgaat ctatcatcta
     2041 gtttccacct acctcttcag tattatcatt tctaattttg ttattctcca ttttctatat
     2101 gccttttgta cactctgaag ctaa
//
LOCUS       NM_001004474            1121 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily S member 1
            (OR10S1), mRNA.
ACCESSION   NM_001004474
VERSION     NM_001004474.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1121)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 1121)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript is intronless         :: BC137037.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000641123.1/ ENSP00000493143.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001884.4.
            On Jun 22, 2021 this sequence version replaced NM_001004474.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1121
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.1"
     gene            1..1121
                     /gene="OR10S1"
                     /gene_synonym="OR11-279"
                     /note="olfactory receptor family 10 subfamily S member 1"
                     /db_xref="GeneID:219873"
                     /db_xref="HGNC:HGNC:14807"
     misc_feature    19..21
                     /gene="OR10S1"
                     /gene_synonym="OR11-279"
                     /note="upstream in-frame stop codon"
     misc_feature    28..30
                     /gene="OR10S1"
                     /gene_synonym="OR11-279"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MTSQERDTAIYSINVSFVAKGMTSRSVCEK"
     misc_feature    91..93
                     /gene="OR10S1"
                     /gene_synonym="OR11-279"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MTSRSVCEK"
     CDS             118..1086
                     /gene="OR10S1"
                     /gene_synonym="OR11-279"
                     /note="olfactory receptor OR11-279"
                     /codon_start=1
                     /product="olfactory receptor 10S1"
                     /protein_id="NP_001004474.2"
                     /db_xref="CCDS:CCDS31701.2"
                     /db_xref="GeneID:219873"
                     /db_xref="HGNC:HGNC:14807"
                     /translation="MTMTTENPNQTVVSHFFLEGLRYTAKHSSLFFLLFLLIYSITVAG
                     NLLILLTVGSDSHLSLPMYHFLGHLSFLDACLSTVTVPKVMAGLLTLDGKVISFEGCAV
                     QLYCFHFLASTECFLYTVMAYDRYLAICQPLHYPVAMNRRMCAEMAGITWAIGATHAAI
                     HTSLTFRLLYCGPCHIAYFFCDIPPVLKLACTDTTINELVMLASIGIVAAGCLILIVIS
                     YIFIVAAVLRIRTAQGRQRAFSPCTAQLTGVLLYYVPPVCIYLQPRSSEAGAGAPAVFY
                     TIVTPMLNPFIYTLRNKEVKHALQRLLCSSFRESTAGSPPP"
ORIGIN
        1 gaccaaggtg gtgtggcttg atggataatg acatctcagg aaagggatac agctatttat
       61 tccattaatg tcagttttgt tgcaaagggg atgactagcc gctctgtgtg tgagaagatg
      121 accatgacaa cggagaaccc caaccagact gtggtgagcc acttcttcct ggagggtttg
      181 aggtacaccg ctaaacattc tagcctcttc ttcctcctct tcctcctcat ctacagcatc
      241 actgtggctg ggaatctcct catcctccta actgtgggct ctgactctca cctcagctta
      301 cccatgtacc acttcctggg gcacctctcc ttcctggatg cctgtttgtc tacagtgaca
      361 gtgcccaagg tcatggcagg cctgctgact ctggatggga aggtgatctc ctttgagggc
      421 tgtgccgtac agctttattg cttccacttt ctggccagca ctgagtgctt cctgtacaca
      481 gtcatggcct atgaccgcta tctggctatc tgtcaacccc tgcactaccc agtggccatg
      541 aacagaagga tgtgtgcaga aatggctgga atcacctggg ccataggtgc cacgcacgct
      601 gcaatccaca cctccctcac cttccgcctg ctctactgtg ggccttgcca cattgcctac
      661 ttcttctgcg acataccccc tgtcctaaag ctcgcctgta cagacaccac cattaatgag
      721 ctagtcatgc ttgccagcat tggcatcgtg gctgcaggct gcctcatcct catcgttatt
      781 tcctacatct tcatcgtggc agctgtgttg cgcatccgca cagcccaggg ccggcagcgg
      841 gccttctccc cctgcactgc ccagctcact ggggtgctcc tgtactacgt gccacctgtc
      901 tgtatctacc tgcagcctcg ctccagtgag gcaggagctg gggcccctgc tgtcttctac
      961 acaatcgtaa ctccaatgct caacccattc atttacactt tgcggaacaa ggaggtgaag
     1021 catgctctgc aaaggctttt gtgcagcagc ttccgagagt ctacagcagg cagcccaccc
     1081 ccatagtctg tgctatcaaa actcacaatt tgcctgccag g
//
LOCUS       NM_001004475             945 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily T member 2
            (OR10T2), mRNA.
ACCESSION   NM_001004475
VERSION     NM_001004475.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 945)
  AUTHORS   Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M and
            Tokunaga K.
  TITLE     An approach based on a genome-wide association study reveals
            candidate loci for narcolepsy
  JOURNAL   Hum Genet 128 (4), 433-441 (2010)
   PUBMED   20677014
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 945)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334438.1/ ENSP00000334115.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL121986.12.
            On Sep 18, 2004 this sequence version replaced XM_060945.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..945
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     gene            1..945
                     /gene="OR10T2"
                     /gene_synonym="OR1-3"
                     /note="olfactory receptor family 10 subfamily T member 2"
                     /db_xref="GeneID:128360"
                     /db_xref="HGNC:HGNC:14816"
     CDS             1..945
                     /gene="OR10T2"
                     /gene_synonym="OR1-3"
                     /note="olfactory receptor OR1-3"
                     /codon_start=1
                     /product="olfactory receptor 10T2"
                     /protein_id="NP_001004475.1"
                     /db_xref="CCDS:CCDS30895.1"
                     /db_xref="GeneID:128360"
                     /db_xref="HGNC:HGNC:14816"
                     /translation="MRGFNKTTVVTQFILVGFSSLGELQLLLFVIFLLLYLTILVANVT
                     IMAVIRFSWTLHTPMYGFLFILSFSESCYTFVIIPQLLVHLLSDTKTISFMACATQLFF
                     FLGFACTNCLLIAVMGYDRYVAICHPLRYTLIINKRLGLELISLSGATGFFIALVATNL
                     ICDMRFCGPNRVNHYFCDMAPVIKLACTDTHVKELALFSLSILVIMVPFLLILISYGFI
                     VNTILKIPSAEGKKAFVTCASHLTVVFVHYGCASIIYLRPKSKSASDKDQLVAVTYTVV
                     TPLLNPLVYSLRNKEVKTALKRVLGMPVATKMS"
     misc_feature    13..15
                     /gene="OR10T2"
                     /gene_synonym="OR1-3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGX3.1); glycosylation site"
     misc_feature    79..141
                     /gene="OR10T2"
                     /gene_synonym="OR1-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX3.1);
                     transmembrane region"
     misc_feature    166..228
                     /gene="OR10T2"
                     /gene_synonym="OR1-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX3.1);
                     transmembrane region"
     misc_feature    301..363
                     /gene="OR10T2"
                     /gene_synonym="OR1-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX3.1);
                     transmembrane region"
     misc_feature    421..483
                     /gene="OR10T2"
                     /gene_synonym="OR1-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX3.1);
                     transmembrane region"
     misc_feature    595..654
                     /gene="OR10T2"
                     /gene_synonym="OR1-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX3.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR10T2"
                     /gene_synonym="OR1-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX3.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR10T2"
                     /gene_synonym="OR1-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX3.1);
                     transmembrane region"
ORIGIN
        1 atgcgaggtt tcaacaaaac cactgtggtt acacagttca tcctggtggg tttctccagc
       61 ctgggggagc tccagctgct gctttttgtc atctttcttc tcctatactt gacaatcctg
      121 gtggccaatg tgaccatcat ggccgttatt cgcttcagct ggactctcca cactcccatg
      181 tatggctttc tattcatcct ttcattttct gagtcctgct acacttttgt catcatccct
      241 cagctgctgg tccacctgct ctcagacacc aagaccatct ccttcatggc ctgtgccacc
      301 cagctgttct ttttccttgg ctttgcttgc accaactgcc tcctcattgc tgtgatggga
      361 tatgatcgct atgtagcaat ttgtcaccct ctgaggtaca cactcatcat aaacaaaagg
      421 ctggggttgg agttgatttc tctctcagga gccacaggtt tctttattgc tttggtggcc
      481 accaacctca tttgtgacat gcgtttttgt ggccccaaca gggttaacca ctatttctgt
      541 gacatggcac ctgttatcaa gttagcctgc actgacaccc atgtgaaaga gctggcttta
      601 tttagcctca gcatcctggt aattatggtg ccttttctgt taattctcat atcctatggc
      661 ttcatagtta acaccatcct gaagatcccc tcagctgagg gcaagaaggc ctttgtcacc
      721 tgtgcctcac atctcactgt ggtctttgtc cactatggct gtgcctctat catctatctg
      781 cggcccaagt ccaagtctgc ctcagacaag gatcagttgg tggcagtgac ctacacagtg
      841 gttactccct tacttaatcc tcttgtctac agtctgagga acaaagaggt aaaaactgca
      901 ttgaaaagag ttcttggaat gcctgtggca accaagatga gctaa
//
LOCUS       NM_001004476            3023 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily K member 2
            (OR10K2), mRNA.
ACCESSION   NM_001004476
VERSION     NM_001004476.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3023)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641042.1/ ENSP00000493297.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL365440.13 and AL121986.12.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 4, 2020 this sequence version replaced NM_001004476.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..3023
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     gene            1..3023
                     /gene="OR10K2"
                     /gene_synonym="OR1-4"
                     /note="olfactory receptor family 10 subfamily K member 2"
                     /db_xref="GeneID:391107"
                     /db_xref="HGNC:HGNC:14826"
     misc_feature    340..342
                     /gene="OR10K2"
                     /gene_synonym="OR1-4"
                     /note="upstream in-frame stop codon"
     CDS             367..1305
                     /gene="OR10K2"
                     /gene_synonym="OR1-4"
                     /note="olfactory receptor OR1-4"
                     /codon_start=1
                     /product="olfactory receptor 10K2"
                     /protein_id="NP_001004476.1"
                     /db_xref="CCDS:CCDS30896.1"
                     /db_xref="GeneID:391107"
                     /db_xref="HGNC:HGNC:14826"
                     /translation="MERVNETVVREVIFLGFSSLARLQQLLFVIFLLLYLFTLGTNAII
                     ISTIVLDRALHIPMYFFLAILSCSEICYTFIIVPKMLVDLLSQKKTISFLGCAIQMFSF
                     LFLGCSHSFLLAVMGYDRYIAICNPLRYSVLMGHGVCMGLVAAACACGFTVAQIITSLV
                     FHLPFYSSNQLHHFFCDIAPVLKLASHHNHFSQIVIFMLCTLVLAIPLLLILVSYVHIL
                     SAILQFPSTLGRCKAFSTCVSHLIIVTVHYGCASFIYLRPQSNYSSSQDALISVSYTII
                     TPLFNPMIYSLRNKEFKSALCKIVRRTISLL"
     misc_feature    379..381
                     /gene="OR10K2"
                     /gene_synonym="OR1-4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6IF99.1); glycosylation site"
     misc_feature    442..504
                     /gene="OR10K2"
                     /gene_synonym="OR1-4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF99.1);
                     transmembrane region"
     misc_feature    529..591
                     /gene="OR10K2"
                     /gene_synonym="OR1-4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF99.1);
                     transmembrane region"
     misc_feature    664..726
                     /gene="OR10K2"
                     /gene_synonym="OR1-4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF99.1);
                     transmembrane region"
     misc_feature    784..846
                     /gene="OR10K2"
                     /gene_synonym="OR1-4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF99.1);
                     transmembrane region"
     misc_feature    958..1017
                     /gene="OR10K2"
                     /gene_synonym="OR1-4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF99.1);
                     transmembrane region"
     misc_feature    1078..1140
                     /gene="OR10K2"
                     /gene_synonym="OR1-4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF99.1);
                     transmembrane region"
     misc_feature    1159..1161
                     /gene="OR10K2"
                     /gene_synonym="OR1-4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6IF99.1); glycosylation site"
     misc_feature    1180..1242
                     /gene="OR10K2"
                     /gene_synonym="OR1-4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF99.1);
                     transmembrane region"
ORIGIN
        1 tttgactttg gtctgggtct aagaccatag accatcatca catctctacc tctgagtaaa
       61 tatcagtagc ctgtgaccca ttttgacctt tttccattct acacgtcaac ttgaattctg
      121 tctcttgtag cctctatgtc cctggcttct cttagggaga ggcagagaaa aatggaagca
      181 ctccatgaat aacagacatc catcttgctt ggactaagca tctacaacct tgagaaactg
      241 ggcaatggac aggaaatgaa aataaacatc tatcctctgg caggacttat gttttcacat
      301 ttcagggatt tcttttggtg ctgactcctc ttctctccct aattgtctcc tgatgatgta
      361 tgctccatgg agcgggtcaa tgagactgtg gtgagagagg tcatcttcct cggcttctca
      421 tccctggcca ggctgcagca gctgctcttt gttatcttcc tgctcctcta cctgttcact
      481 ctgggcacca atgcaatcat catttccacc attgtcctgg acagggccct tcatatcccc
      541 atgtacttct tccttgccat cctctcttgc tctgagattt gctacacctt catcattgta
      601 cccaagatgc tggttgacct gctgtcccag aagaagacca tttctttcct gggctgtgcc
      661 atccaaatgt tttccttcct cttccttggc tgctctcact cctttctgct ggcagtcatg
      721 ggttatgatc gttacatagc catctgtaac ccactgcgct actcagtgct aatgggacat
      781 ggggtgtgta tgggactagt ggctgctgcc tgtgcctgtg gcttcactgt tgcacagatc
      841 atcacatcct tggtatttca cctgcctttt tattcctcca atcaactaca tcacttcttc
      901 tgtgacattg ctcctgtcct caagctggca tctcaccata accactttag tcagattgtc
      961 atcttcatgc tctgtacatt ggtcctggct atccccttat tgttgatctt ggtgtcctat
     1021 gttcacatcc tctctgccat acttcagttt ccttccacac tgggtaggtg caaagctttt
     1081 tctacctgtg tatctcacct cattattgtc actgtccact atggctgtgc ctcctttatc
     1141 tacttaaggc ctcagtccaa ctactcctca agccaggatg ctctaatatc agtatcctac
     1201 actattataa ctccattgtt caacccaatg atttatagct tgagaaataa agagttcaaa
     1261 tcagctcttt gtaaaattgt gagaagaaca atttccctgt tgtaaaatta atcttgattc
     1321 tggccaggtg cagtttctca cgactgtaat cccagcattt tggaaggctg agacaggtgg
     1381 atcacctgag gtcaggactt caagaccagc ctggccaaca tagtgaaatc ctatctctac
     1441 caaaaaatat acaaattaac cggatgctgt ggtgggctcc tgtaatctca gctactcagg
     1501 agcctgagac aggagaatca cttgaaccca ggaggcagaa ggttgcagtg agattgtgtc
     1561 actgcactcc agcctgggcg acagagtaag actctgtctc aaaaaaaaaa aaaaaaaaaa
     1621 atcttgattc tgctctttcc aaaccgtaaa ccacaagtta tacaggaaaa aattcccaga
     1681 acacaaatga tcaagcaatt gagcattatg ttcaggaaca tagatcattt cccgtcatct
     1741 ccaaatataa aatttagaaa aacacaactg cttgccacac tcacatgaat tattgcctat
     1801 tgaaggtttt ttttcaattg attaaaaaat aacagatggc tattatgggg aagcatatgt
     1861 atgttcagaa ttttaggctg tagtaaatac tgtcacccaa tctcagccag gctgaaaact
     1921 aaccctgcaa aatgtggcac aaccctaact ctctgttcta gggactcagg aagcttctat
     1981 ctctaggatt tttctagatg ttttctggac ctcagtcttc caaaatcatc agatcacaat
     2041 tgttaaatga gatacttgtt aagcgtcatt acaatgtttg atgcataaga tatatccaaa
     2101 taatgttcaa gttagaaaat tatgaaaagt tatccatttc catgcttcta gtgtattaat
     2161 gaaatacgat catttctaat tttgtatgca gaggcataca tctaaatttg gtcagcatac
     2221 cctgaagata ttcacagggg aatggattaa tgacaagacc taaaatcacc ctaaatgacc
     2281 aggcaaggca agctaaagat taagtcaatt tcactaaata ttcaccaagt ggaaagcttt
     2341 gcatatggaa caatcaatct gttctccatg caactcaaga gtttgcatgt acatttgaga
     2401 ccagaacttg aatttgatgt tttcattctc tgtcctttct gcaggagtga tagcaaaaag
     2461 gaagtttcac aatagtgatg atttctcaca ttataactct tttcaagatc cacctgtcaa
     2521 taaaagtctc ctgattgatt aattttgttt ctaagttttt tccttttctt ccaccagtct
     2581 gttcatcaat gacatatacc ttttaggggt tgaagcggga gggaaggaag tggaatgttt
     2641 tgttcacagg ccctgtttat tgtaggacat ctgccaagaa tgtaagtcaa ttgcatttct
     2701 tccatttctt tgaagcttga aacttgctgc tgatgggggt tgaaaatcag agattgatgc
     2761 aaaattaatt tcagtggccc ccaagttgtc ttttccttgg ccatattgcc caccccaggc
     2821 ctctagcata tcaagttgat tcatgaaaag taaatgagct aagtttaatg tgttaattat
     2881 ttatagctgc attgtgtgct acagtttaac aatgttactt catctaaact ttagagcaca
     2941 ctgggaagta tatattataa tcgacatttt gtagatgaga aaaatgacac tcagacaaat
     3001 aaaatgactt gcctactaat gag
//
LOCUS       NM_001004477             981 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily X member 1
            (OR10X1), mRNA.
ACCESSION   NM_001004477
VERSION     NM_001004477.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 981)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 981)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 981)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   4  (bases 1 to 981)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000623167.1/ ENSP00000485609.1
            polymorphic pseudogene :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BK004194.1.
            On Sep 19, 2004 this sequence version replaced XM_060952.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be non-functional as an olfactory receptor
            according to the Classifier for Olfactory Receptor Pseudogenes.
FEATURES             Location/Qualifiers
     source          1..981
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     gene            1..981
                     /gene="OR10X1"
                     /gene_synonym="OR1-13; OR1-14; OR10X1P"
                     /note="olfactory receptor family 10 subfamily X member 1"
                     /db_xref="GeneID:128367"
                     /db_xref="HGNC:HGNC:14995"
     CDS             1..981
                     /gene="OR10X1"
                     /gene_synonym="OR1-13; OR1-14; OR10X1P"
                     /note="olfactory receptor, family 10, subfamily X, member 1
                     pseudogene; olfactory receptor OR1-14; olfactory receptor
                     OR1-13 pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 10X1"
                     /protein_id="NP_001004477.1"
                     /db_xref="GeneID:128367"
                     /db_xref="HGNC:HGNC:14995"
                     /translation="MVLNVYCCFFQISDIQTMKINQTILKEFILVGFSVYPHVQTFLFV
                     VFFCLYLLTLAGNLIIMGLTWVDRSLHTPMYLFLSALSFSETCYTLTIVPKMLEDLLAK
                     DRSISVTGCSLQMCFFLGLGGTNCIILTLMGYDRFLAICNPLRYPLLMTNIVCGQLVAS
                     ACTAGFFISLTETALIFRDSFCRPNLVKHFFCHMLAVIRLSCIDSNHTEFIITLISVSG
                     LLGTLLLIILTDVFIISTVLRIPSAEGKQKAFTTCASHLTVVIIHFGFASIVYLKPEAS
                     GDDTLIAVPYTVITPFLSPIIFSLRNKDMKNAFRRMMGNTVALKK"
     misc_feature    61..63
                     /gene="OR10X1"
                     /gene_synonym="OR1-13; OR1-14; OR10X1P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGY0.2); glycosylation site"
     misc_feature    124..186
                     /gene="OR10X1"
                     /gene_synonym="OR1-13; OR1-14; OR10X1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY0.2);
                     transmembrane region"
     misc_feature    211..273
                     /gene="OR10X1"
                     /gene_synonym="OR1-13; OR1-14; OR10X1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY0.2);
                     transmembrane region"
     misc_feature    346..408
                     /gene="OR10X1"
                     /gene_synonym="OR1-13; OR1-14; OR10X1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY0.2);
                     transmembrane region"
     misc_feature    466..528
                     /gene="OR10X1"
                     /gene_synonym="OR1-13; OR1-14; OR10X1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY0.2);
                     transmembrane region"
     misc_feature    625..627
                     /gene="OR10X1"
                     /gene_synonym="OR1-13; OR1-14; OR10X1P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGY0.2); glycosylation site"
     misc_feature    640..699
                     /gene="OR10X1"
                     /gene_synonym="OR1-13; OR1-14; OR10X1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY0.2);
                     transmembrane region"
     misc_feature    760..822
                     /gene="OR10X1"
                     /gene_synonym="OR1-13; OR1-14; OR10X1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY0.2);
                     transmembrane region"
     misc_feature    853..915
                     /gene="OR10X1"
                     /gene_synonym="OR1-13; OR1-14; OR10X1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY0.2);
                     transmembrane region"
ORIGIN
        1 atggtgttga atgtttattg ttgtttcttt caaatttcag acattcaaac gatgaagatc
       61 aaccagacaa tcctgaagga attcattctt gttggctttt ctgtgtaccc acatgtacag
      121 acatttcttt ttgtggtctt cttttgtctc taccttctca cccttgcagg taatctgatc
      181 atcatgggtc taacttgggt ggacaggtcc ctccacaccc ctatgtatct cttccttagt
      241 gcactctcct tctctgagac ctgctatacg ctgaccatcg tccccaagat gctggaagat
      301 ctactggcca aggacagaag catttcagtc acaggttgta gcttacagat gtgcttcttc
      361 ttgggacttg gtggcacaaa ctgtatcatt ctcactttga tgggatatga ccgcttcctg
      421 gccatctgta accctctaag atatccactg cttatgacca acattgtatg tggacaactt
      481 gtggcctctg cttgcactgc aggcttcttt atctctctta cagagactgc actgatattc
      541 agggactctt tctgcagacc caaccttgtc aaacacttct tctgccatat gctggcagtt
      601 attaggctgt cttgtataga cagtaaccac acagaattca ttataacact gatctcagtg
      661 tctggtttgc tgggtaccct tctgctcatc atcctgactg atgtcttcat tatttctact
      721 gtcctcagga tcccttcagc tgagggcaag cagaaggcct tcaccacctg tgcctcccac
      781 ctcaccgtgg ttataatcca ctttggtttt gcatctattg tttatttgaa gccagaagcc
      841 tcaggagatg acacactcat agcagtccct tatactgtca ttaccccctt cctcagcccc
      901 atcatattca gcctgaggaa taaggacatg aaaaatgctt ttagaagaat gatgggaaac
      961 acagttgcct tgaaaaaata a
//
LOCUS       NM_001004478            6323 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily Z member 1
            (OR10Z1), mRNA.
ACCESSION   NM_001004478
VERSION     NM_001004478.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6323)
  AUTHORS   van der Harst P, Zhang W, Mateo Leach I, Rendon A, Verweij N, Sehmi
            J, Paul DS, Elling U, Allayee H, Li X, Radhakrishnan A, Tan ST, Voss
            K, Weichenberger CX, Albers CA, Al-Hussani A, Asselbergs FW, Ciullo
            M, Danjou F, Dina C, Esko T, Evans DM, Franke L, Gogele M, Hartiala
            J, Hersch M, Holm H, Hottenga JJ, Kanoni S, Kleber ME, Lagou V,
            Langenberg C, Lopez LM, Lyytikainen LP, Melander O, Murgia F, Nolte
            IM, O'Reilly PF, Padmanabhan S, Parsa A, Pirastu N, Porcu E, Portas
            L, Prokopenko I, Ried JS, Shin SY, Tang CS, Teumer A, Traglia M,
            Ulivi S, Westra HJ, Yang J, Zhao JH, Anni F, Abdellaoui A, Attwood
            A, Balkau B, Bandinelli S, Bastardot F, Benyamin B, Boehm BO,
            Cookson WO, Das D, de Bakker PI, de Boer RA, de Geus EJ, de Moor MH,
            Dimitriou M, Domingues FS, Doring A, Engstrom G, Eyjolfsson GI,
            Ferrucci L, Fischer K, Galanello R, Garner SF, Genser B, Gibson QD,
            Girotto G, Gudbjartsson DF, Harris SE, Hartikainen AL, Hastie CE,
            Hedblad B, Illig T, Jolley J, Kahonen M, Kema IP, Kemp JP, Liang L,
            Lloyd-Jones H, Loos RJ, Meacham S, Medland SE, Meisinger C, Memari
            Y, Mihailov E, Miller K, Moffatt MF, Nauck M, Novatchkova M, Nutile
            T, Olafsson I, Onundarson PT, Parracciani D, Penninx BW, Perseu L,
            Piga A, Pistis G, Pouta A, Puc U, Raitakari O, Ring SM, Robino A,
            Ruggiero D, Ruokonen A, Saint-Pierre A, Sala C, Salumets A, Sambrook
            J, Schepers H, Schmidt CO, Sillje HH, Sladek R, Smit JH, Starr JM,
            Stephens J, Sulem P, Tanaka T, Thorsteinsdottir U, Tragante V, van
            Gilst WH, van Pelt LJ, van Veldhuisen DJ, Volker U, Whitfield JB,
            Willemsen G, Winkelmann BR, Wirnsberger G, Algra A, Cucca F, d'Adamo
            AP, Danesh J, Deary IJ, Dominiczak AF, Elliott P, Fortina P, Froguel
            P, Gasparini P, Greinacher A, Hazen SL, Jarvelin MR, Khaw KT,
            Lehtimaki T, Maerz W, Martin NG, Metspalu A, Mitchell BD, Montgomery
            GW, Moore C, Navis G, Pirastu M, Pramstaller PP, Ramirez-Solis R,
            Schadt E, Scott J, Shuldiner AR, Smith GD, Smith JG, Snieder H,
            Sorice R, Spector TD, Stefansson K, Stumvoll M, Tang WH, Toniolo D,
            Tonjes A, Visscher PM, Vollenweider P, Wareham NJ, Wolffenbuttel BH,
            Boomsma DI, Beckmann JS, Dedoussis GV, Deloukas P, Ferreira MA,
            Sanna S, Uda M, Hicks AA, Penninger JM, Gieger C, Kooner JS,
            Ouwehand WH, Soranzo N and Chambers JC.
  TITLE     Seventy-five genetic loci influencing the human red blood cell
  JOURNAL   Nature 492 (7429), 369-375 (2012)
   PUBMED   23222517
REFERENCE   2  (bases 1 to 6323)
  AUTHORS   Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M and
            Tokunaga K.
  TITLE     An approach based on a genome-wide association study reveals
            candidate loci for narcolepsy
  JOURNAL   Hum Genet 128 (4), 433-441 (2010)
   PUBMED   20677014
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 6323)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641002.1/ ENSP00000493003.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL353894.14.
            On Jul 30, 2020 this sequence version replaced NM_001004478.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..6323
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     gene            1..6323
                     /gene="OR10Z1"
                     /gene_synonym="OR1-15"
                     /note="olfactory receptor family 10 subfamily Z member 1"
                     /db_xref="GeneID:128368"
                     /db_xref="HGNC:HGNC:14996"
     misc_feature    188..190
                     /gene="OR10Z1"
                     /gene_synonym="OR1-15"
                     /note="upstream in-frame stop codon"
     CDS             248..1189
                     /gene="OR10Z1"
                     /gene_synonym="OR1-15"
                     /note="olfactory receptor OR1-15"
                     /codon_start=1
                     /product="olfactory receptor 10Z1"
                     /protein_id="NP_001004478.1"
                     /db_xref="CCDS:CCDS30901.1"
                     /db_xref="GeneID:128368"
                     /db_xref="HGNC:HGNC:14996"
                     /translation="MGQTNVTSWRDFVFLGFSSSGELQLLLFALFLSLYLVTLTSNVFI
                     IIAIRLDSHLHTPMYLFLSFLSFSETCYTLGIIPRMLSGLAGGDQAISYVGCAAQMFFS
                     ASWACTNCFLLAAMGFDRYVAICAPLHYASHMNPTLCAQLVITSFLTGYLFGLGMTLVI
                     FHLSFCSSHEIQHFFCDTPPVLSLACGDTGPSELRIFILSLLVLLVSFFFITISYAYIL
                     AAILRIPSAEGQKKAFSTCASHLTVVIIHYGCASFVYLRPKASYSLERDQLIAMTYTVV
                     TPLLNPIVYSLRNRAIQTALRNAFRGRLLGKG"
     misc_feature    260..262
                     /gene="OR10Z1"
                     /gene_synonym="OR1-15"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGY1.1); glycosylation site"
     misc_feature    323..385
                     /gene="OR10Z1"
                     /gene_synonym="OR1-15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY1.1);
                     transmembrane region"
     misc_feature    410..472
                     /gene="OR10Z1"
                     /gene_synonym="OR1-15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY1.1);
                     transmembrane region"
     misc_feature    545..607
                     /gene="OR10Z1"
                     /gene_synonym="OR1-15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY1.1);
                     transmembrane region"
     misc_feature    665..727
                     /gene="OR10Z1"
                     /gene_synonym="OR1-15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY1.1);
                     transmembrane region"
     misc_feature    839..898
                     /gene="OR10Z1"
                     /gene_synonym="OR1-15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY1.1);
                     transmembrane region"
     misc_feature    959..1021
                     /gene="OR10Z1"
                     /gene_synonym="OR1-15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY1.1);
                     transmembrane region"
     misc_feature    1061..1123
                     /gene="OR10Z1"
                     /gene_synonym="OR1-15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY1.1);
                     transmembrane region"
ORIGIN
        1 agagtaggag atttcaagat gcatctcaag tctttctcct gtggtctatc ctgctgggag
       61 gcagtctagt gcatgggagc taaaaggcag gacttgcttt gtgagcctct tcaggtcagc
      121 gtgagtctgt tcagttgcaa caggaacaag agaaaaagaa tccatatcat ccacctttta
      181 aagaagttag gcatctactg gcaaggtgga agaaatcaac aaatctatca gggatatacc
      241 tctcagaatg gggcagacca acgtaacctc ctggagggat tttgtcttcc tgggcttctc
      301 cagttctggg gagttgcagc tccttctctt tgccttgttc ctctctctgt atctagtcac
      361 tctgaccagc aatgtcttca ttatcatagc catcaggctg gatagccatc tgcacacccc
      421 catgtacctc ttcctttcct tcctatcctt ctctgagacc tgctacactt tgggcatcat
      481 ccctagaatg ctctctggcc tggctggggg ggaccaggct atctcctatg tgggctgtgc
      541 tgcccagatg ttcttttctg cctcatgggc ctgtactaac tgcttccttc tggctgccat
      601 gggctttgac agatatgtgg ccatctgtgc tccactccac tatgccagcc acatgaatcc
      661 taccctctgt gcccagctgg tcattacttc cttcctgact ggatacctct ttggactggg
      721 aatgacacta gttattttcc acctctcatt ctgcagctcc catgaaatcc agcacttttt
      781 ttgtgacacg ccacctgtgc tgagcctagc ctgtggagat acaggcccga gtgagctgag
      841 gatctttatc ctcagtcttt tggtcctctt ggtctccttc ttcttcatca ccatctccta
      901 cgcctacatc ttggcagcaa tactgaggat cccctctgct gaggggcaga agaaggcctt
      961 ctccacttgt gcctcgcacc ttacagtggt cattattcat tatggctgtg cttccttcgt
     1021 gtacctgagg cccaaagcca gctactctct tgagagagat cagcttattg ccatgaccta
     1081 tactgtagtg acccccctcc ttaatcccat tgtttatagt ctaaggaata gggctataca
     1141 gacagctctg aggaatgctt tcagagggag attgctgggt aaaggatgaa ggttacccca
     1201 ataggacact ttcttctgtg taggctgggc atagaccaag aacccaagcc aaagggccag
     1261 gtattcaagg cctcaggcca aagctgtcct acccccaatc ttctgggaaa gccttatcct
     1321 gcctcttgcc cttccccctg actgcttgga atgcagaggc ggggcttcct gctctgctca
     1381 ctgtgcacaa ctcaaaatga gcccaaaatc tgaattttaa ctttcagcct cctagatgcc
     1441 acccctagtt actgaaaccc attgagaatt aaaaatttaa ttaagataat caagaatttt
     1501 ttaattgagc tgaacaaaat gagggaagtt tggagtgttc aagttcaagg cagggctggc
     1561 tggagcccat cagggatact gtagagattt ctaaaatcat tacataatta gactatttga
     1621 cctgtaatgt tcttccaaga tttgaaacct ggggaatatc agcttgacag gttagtttaa
     1681 agctttgtta aatgaacagg tgggtcattt ttactcccac tgggtgtctt tcatcttttt
     1741 atgtttttat tttttttaat ttcaactatt atttcatata cagtggggca catgtgctta
     1801 tacattcctc attgtgctat tgacagtagc aaaaacatgg aatcatcttt ttatatagtt
     1861 gtcctcacta tctctgactc tgttactttg ccctttttgt tttgattgat tttccaagct
     1921 gggtgcactc tatttcagaa aatatattta cttcctattt ttttttataa ctgttaatgt
     1981 tccctggtag cttcagaatc ttgagtgtca aagacctttc tcatttgggt cgcttatcaa
     2041 attggatact gttcttttga atctattgca gaactatcta ttctgcctat tccactttcc
     2101 acatataatg tggttatata tagcggcgga cattattaga gaaagtgtaa tgaactcaca
     2161 agaccgtcag gcaggagttt gaatccaaac tcttcaactt actagctgtg tgactctagg
     2221 taagttattt aacatttttt tcagcttccg agtcttatct ttacaatggt tggtgactaa
     2281 acaggatcat gcatacaaag aatttagcac aacccttgga tcatagcgat cgtccaataa
     2341 attccagttg ctactattaa aatgtgtgaa ggaaaaagat attggctttt agtttaggta
     2401 gagtttactc taggtggagg atcagagaag acttcatgtc ttaaatagta tctgaacttg
     2461 ttcctaaagg atgggtgagc tttgaatgca ctgactgggg agaaagtaca ttctcagaag
     2521 agagaatgta atagccaaag gcttgatggt aagacaatat aagcctagtt taatgtgtgt
     2581 gagttattca gaggggctgg aaacaactca caaatgatgc tgagaagtta gtttgagtca
     2641 tgacttactt gttgaaataa tttgaatacc ttgcttcaga catggtcctt ttgtctatag
     2701 gagataaggc acagtaaaac gttgaacaga gagaggcatc tgggaaggga ttcaggaaga
     2761 ttaatccagc agcaaagggg atgatagatt tcagtagaga gaaaccagag gcaaggagat
     2821 cagcaagaaa cccatggata tcagcttaaa aaaaggcaaa gaggcttgaa tatggatagt
     2881 gacattcaga gactgaagga aatcacaaac atgagatttt gagaaggtag aattcacagg
     2941 atttggcagt gagatagaag tggggcatgg cttgagagac aaggaaagac cttaggccga
     3001 gaagatattt ttcagacaga aatccatatt ttttcatgct ttcaggaaag aaatacatcc
     3061 tctaattgga atttgatgaa aacaatttga gaggaaggaa gctagagctc agagaagaga
     3121 acaggatgaa gacaagtaga tgagttagtc agatagccaa aagggcctca tcaggggaga
     3181 aaggccatct actctgaagt tctcaatatt ggaagaagta atgcctcatt gcactgaggc
     3241 catgtgagca aattcatttc accagttcat tcagtctgcc cagcataaca ttgactaaat
     3301 gcacagtgac gaatggttag taaggatgtt tcaagtattg ctaagtaata cttagaggtc
     3361 taacttccac atgtagtagt cttaagtatg gaagggtata aaatcacttg gagggatttt
     3421 tccaaatagg tgtttttgga atctatctaa tttgtttcta ccttgaaaca attgatttgg
     3481 gatagggaca acataatagt cttcaaaatc tcgtttggtg attcaaattt cctctcttga
     3541 ttaagtatgt gactacgcgc ttagaaaggg caaactcttc ttccaggtac acacatttga
     3601 cccactaaat gactaataat ttgatttagg ccttgaaaat ttttggcagg gttagcattg
     3661 ggggaatgga atcacatcca cctttgcttg tgattatttt cagcacaaat agttttagac
     3721 tatccatatg tggtaagtgt gatattaaac aatgctaatt ttcgatggcc tatatctttt
     3781 ctaactgtac tatttttggt aacttataat caggcaattt agacatttgt gaacattaat
     3841 tttgaaaata ctttctgctt gttatattcc atagtatttg actatttaag aaaagaatca
     3901 ctaaaatacc tgtatgttgt tagtatcaat gataactttt tagctttaac caactttttg
     3961 tttaaaaaag gctcctatga caggatttgt cctgcacaga ttcatttcta tgcagaggaa
     4021 gggactgaga cttaagatgg taatcaagtg gcaacatgaa tggattggta agtggggact
     4081 atttgtgcag aacgctagca gttttataca cagcaattaa gatatctaag aattctcacc
     4141 agcaaatgac accattacct tttatagatc aaatcagaat gtcggcatat aaacctgttc
     4201 agaataaacc tggcctgaaa atttttgaag atagcatcac ctcttctttt tttaaaatta
     4261 attcttaatt ttataaataa ttctattaac tgttacttta acaggatatt gaagtattat
     4321 ttttattaca ttaaaactta agagaaaata cgggagcttg gaggacaaga gaaagccctg
     4381 ctatgctgga attttgtctt tctgagagta ataacatcta caataatttt gaagtatgga
     4441 aaaaaaacaa gaagaaaaca ggtgttatgc tgatctgtgt gttgtttcat tgtacaaact
     4501 aaaatattca tgttccccag aaaatcaaat atctttattt tcaaatttaa atttaaacac
     4561 attccaaagt ttaaaaaaat tgtttgaaaa ttgccttgga ttttatttat ctactatacc
     4621 atggcccttc tttacagtaa aattagctgc ccactcttat atgagtacag ttcccagaaa
     4681 tatagaagct caacatttta cttaactttg ccccaaaaaa tatttttaaa aagaattact
     4741 ttattctata atcggaataa agcaaaatga taaagacgtg caaaacagaa caaataaaaa
     4801 tagaaacttt gacacccctc agcagtgact agttgcatac aaaatagctt ccactcctcc
     4861 aactctatta acctttctat ctcccaccct tgagattttt taagatccta caataaatgt
     4921 aatatgcaca caaacacaag cacacacaca cacacacaca cacacacaca cacacgaggc
     4981 catctttatc ttccacattt gcctgtactc tttgcccccc agtaaatttc ccacgacact
     5041 aagattttct acgatccacg aggagctgct tattagttgc caaagtagga attggtgaag
     5101 ccaacgtagt catagccaga gagatggctt cgaccccgtg ggtccatata ttgctgcata
     5161 tgtgtggcac agaatgacac ttgctctggg gtaagggcct gaaaagtata aaaagagaaa
     5221 aatacagtta tagggattca aaatagctgg ttccttgggg cttcccatat tacgccataa
     5281 atgcaggaga tggagagtct ctggaagacg caagccctat ttctattaca cacaattttt
     5341 atctcataaa tttataattt ctaatgagta acttaacttt taatctcagc cctttcttga
     5401 aaaagagagc ttactcactt tgattattct gtaaatctca ttccctaaag ttgttttatt
     5461 aaatagaagg aattatatgc ctaacaacat ttgttgacca cttgatctat ttcatcttcc
     5521 tggctgcttt gagatgtggg gactagcatg ttttatgagt aaggtaaaat actcaagaag
     5581 gtagaataac tcaccagtgg ttacactgcc agaaagtggt agagctggga cttgaaccta
     5641 tgatcctctt atgccaaaga gttcctctat tcactgtgct gtttgattac caagtggatc
     5701 cctaaagact ccaataagtt agcgtgtggg tgggtggctc cagatagtgt ctggaagacc
     5761 acatcatttt ctttttgtaa cagctttgtc gaggtatgat tgataaagaa ttgcaccttt
     5821 aatgtgtaca gtttgatgag tttagacaat tggatgagtt tgtgcaaaac gataccatca
     5881 tgtatgtgac cctttgtaat ctggtttctg cttaattgtt ttccctttca ctttctgtta
     5941 ctatcttctt accttatgct ttaggtatta ggaaaatctg ttttctcaag ttcctttgca
     6001 cacacacttg cctttgcctg aaacacttag gctttccttt gatgacttga tgagttcctg
     6061 cacgtccttc aacactcacc ctgtgttaat catagatgat actttccctg atgcaagtat
     6121 tttaaggaga ggaatgaaga aagctcttgg aatcagagag aagagagatt acttctggtt
     6181 gtaataaaat tccccacatc tttgttccca tgacagatgt gtttgcttct gttacagtgt
     6241 ttttaacttg taaagttctg tcttccccac tacacctgaa tttagggact gtgtcttact
     6301 aaagtttgca ctcctcatgc ctg
//
LOCUS       NM_001004479            1585 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 11 subfamily H member 4
            (OR11H4), mRNA.
ACCESSION   NM_001004479
VERSION     NM_001004479.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1585)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1585)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641082.1/ ENSP00000493183.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356019.5.
            On Aug 7, 2020 this sequence version replaced NM_001004479.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1585
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1585
                     /gene="OR11H4"
                     /gene_synonym="OR14-36"
                     /note="olfactory receptor family 11 subfamily H member 4"
                     /db_xref="GeneID:390442"
                     /db_xref="HGNC:HGNC:15347"
     CDS             58..1002
                     /gene="OR11H4"
                     /gene_synonym="OR14-36"
                     /note="olfactory receptor OR14-36"
                     /codon_start=1
                     /product="olfactory receptor 11H4"
                     /protein_id="NP_001004479.2"
                     /db_xref="CCDS:CCDS32034.2"
                     /db_xref="GeneID:390442"
                     /db_xref="HGNC:HGNC:15347"
                     /translation="MNRSATHIVTEFILLGFPGCWKIQIFLFSLFLVIYVLTLLGNGAI
                     IYAVRCNPLLHTPMYFLLGNFAFLEIWYVSSTIPNMLVNILSKTKAISFSGCFLQFYFF
                     FSLGTTECLFLAVMAYDRYLAICHPLQYPAIMTVRFCGKLVSFCWLIGFLGYPIPIFYI
                     SQLPFCGPNIIDHFLCDMDPLMALSCAPAPITECIFYTQSSLVLFFTSMYILRSYILLL
                     TAVFQVPSAAGRRKAFSTCGSHLVVVSLFYGTVMVMYVSPTYGIPTLLQKILTLVYSVT
                     TPLFNPLIYTLRNKDMKLALRNVLFGMRIRQNS"
ORIGIN
        1 aggggcattc aacagaaggc tattaaatca agctatcaca cttatgactt aagacccatg
       61 aacaggtcag caacacacat cgtgacagag tttattctcc tgggattccc tggttgctgg
      121 aagattcaga ttttcctctt ctcattgttt ttggtgattt atgtcttgac cttgctggga
      181 aatggagcca tcatctatgc agtgagatgc aacccactac tacacacccc catgtacttt
      241 ctgctgggaa attttgcctt ccttgagatc tggtatgtgt cctccactat tcctaacatg
      301 ctagtcaaca ttctctccaa gaccaaggcc atctcatttt ctgggtgctt cctccagttc
      361 tatttcttct tttcactggg aacaactgaa tgtctctttc tggcagtaat ggcttatgat
      421 cgatacctgg ccatctgcca cccactgcag taccctgcca tcatgactgt aaggttctgt
      481 ggtaagctgg tgtctttctg ttggcttatt ggattccttg gatacccaat tcccattttc
      541 tacatctccc aactcccctt ctgtggtcct aatatcattg atcacttcct gtgtgacatg
      601 gacccattga tggctctatc ctgtgcccca gctcccataa ctgaatgtat tttctatact
      661 cagagctccc ttgtcctctt tttcactagt atgtacattc ttcgatccta tatcctgtta
      721 ctaacagctg tttttcaggt cccttctgca gctggtcgga gaaaagcctt ctctacctgt
      781 ggttctcatt tggttgtggt atctcttttc tatgggacag tcatggtaat gtatgtaagt
      841 cctacatatg ggatcccaac tttattgcag aagatcctca cactggtata ttcagtaacg
      901 actcctcttt ttaatcctct gatctatact cttcgtaata aggacatgaa actcgctctg
      961 agaaatgtcc tgtttggaat gagaattcgt caaaattcgt gagccaaaga tgtgccatac
     1021 ttacaagttc taacgaagaa caaggtcgag atgttgtcag ttctttagca gtctttcagt
     1081 cctcagtctg agtagttaga ggttgtatat tttacctgga agtgtgccca gcttaaatat
     1141 gtttccagca ctgactcttt aaaccttaat taactggtct tcaacatcca cttaaaagtt
     1201 ttcaaagcct gtctttatta gaatgataaa atggaatttc tacatgagat gccctcctgc
     1261 tgacatgccc catggttcat cattgtatat cttcttcctc attgcaacaa gacaataaac
     1321 ccaactttgt tcaactacag gtatgctcct aggagtcttt gtctgatggg aatcaatagt
     1381 ggcacaatac ccagcaaacg gtaaggcctc agacatgttt tttaaatatc tctatctcaa
     1441 ttttttttac ttacaacaat aatatgtgat tgttgtaata aattcaagca attcagaaga
     1501 atgtccatct tcactcccat attcaccaat tttcctatct gctcctcaga gtcaatacat
     1561 ctaaatccct ctgtctggca ctcga
//
LOCUS       NM_001004480             993 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 11 subfamily H member 6
            (OR11H6), mRNA.
ACCESSION   NM_001004480
VERSION     NM_001004480.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 993)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000315519.3/ ENSP00000319071.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL356019.5.
            On Sep 18, 2004 this sequence version replaced XM_063315.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..993
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..993
                     /gene="OR11H6"
                     /note="olfactory receptor family 11 subfamily H member 6"
                     /db_xref="GeneID:122748"
                     /db_xref="HGNC:HGNC:15349"
     CDS             1..993
                     /gene="OR11H6"
                     /note="olfactory receptor OR14-35"
                     /codon_start=1
                     /product="olfactory receptor 11H6"
                     /protein_id="NP_001004480.1"
                     /db_xref="CCDS:CCDS32033.1"
                     /db_xref="GeneID:122748"
                     /db_xref="HGNC:HGNC:15349"
                     /translation="MFFIIHSLVTSVFLTALGPQNRTMHFVTEFVLLGFHGQREMQSCF
                     FSFILVLYLLTLLGNGAIVCAVKLDRRLHTPMYILLGNFAFLEIWYISSTVPNMLVNIL
                     SEIKTISFSGCFLQFYFFFSLGTTECFFLSVMAYDRYLAICRPLHYPSIMTGKFCIILV
                     CVCWVGGFLCYPVPIVLISQLPFCGPNIIDHLVCDPGPLFALACISAPSTELICYTFNS
                     MIIFGPFLSILGSYTLVIRAVLCIPSGAGRTKAFSTCGSHLMVVSLFYGTLMVMYVSPT
                     SGNPAGMQKIITLVYTAMTPFLNPLIYSLRNKDMKDALKRVLGLTVSQN"
     misc_feature    61..63
                     /gene="OR11H6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGC7.1); glycosylation site"
     misc_feature    130..192
                     /gene="OR11H6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1);
                     transmembrane region"
     misc_feature    217..279
                     /gene="OR11H6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1);
                     transmembrane region"
     misc_feature    352..414
                     /gene="OR11H6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1);
                     transmembrane region"
     misc_feature    472..534
                     /gene="OR11H6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1);
                     transmembrane region"
     misc_feature    646..705
                     /gene="OR11H6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1);
                     transmembrane region"
     misc_feature    766..828
                     /gene="OR11H6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1);
                     transmembrane region"
     misc_feature    868..930
                     /gene="OR11H6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1);
                     transmembrane region"
ORIGIN
        1 atgttcttta ttattcattc tttggttact tctgtttttc taacagcttt gggaccccag
       61 aacagaacaa tgcattttgt gactgagttt gtcctcctgg gtttccatgg tcaaagggag
      121 atgcagagct gcttcttctc attcatcctg gttctctatc tcctgacact gctagggaat
      181 ggagctattg tctgtgcagt gaaattggac aggcggctcc acacacccat gtacatcctt
      241 ctgggaaact ttgcctttct agagatctgg tacatttcct ccactgtccc aaacatgcta
      301 gtcaatatcc tctctgagat taaaaccatc tccttctctg gttgcttcct gcaattctat
      361 ttcttttttt cactgggtac aacagagtgt ttctttttat cagttatggc ttatgatcgg
      421 tacctggcca tctgtcgtcc attacactac ccctccatca tgactgggaa gttctgtata
      481 attctggtct gtgtatgctg ggtaggcgga tttctctgct atccagtccc tattgttctt
      541 atctcccaac ttcccttctg tgggcccaac atcattgacc acttggtgtg tgacccaggc
      601 ccattgtttg cactggcctg catctctgct ccttccactg agcttatctg ttacaccttc
      661 aactcgatga ttatctttgg gcccttcctc tccatcttgg gatcttacac tctggtcatc
      721 agagctgtgc tttgtattcc ctctggtgct ggtcgaacta aagctttctc cacatgtggg
      781 tcccacctaa tggtggtgtc tctattctat ggaaccctta tggtgatgta tgtgagccca
      841 acatcaggga acccagcagg aatgcagaag atcatcactc tggtatacac agcaatgact
      901 ccattcttaa atccccttat ctatagtctt cgaaacaaag acatgaaaga tgctctaaag
      961 agagtcctgg ggttaacagt tagccaaaac tga
//
LOCUS       NM_001004481             957 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 13 subfamily C member 2
            (OR13C2), mRNA.
ACCESSION   NM_001004481
VERSION     NM_001004481.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 957)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   2  (bases 1 to 957)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 957)
  AUTHORS   Hoppe R, Breer H and Strotmann J.
  TITLE     Organization and evolutionary relatedness of OR37 olfactory receptor
            genes in mouse and human
  JOURNAL   Genomics 82 (3), 355-364 (2003)
   PUBMED   12906860
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136824.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000542196.2/ ENSP00000438815.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL359846.11.
            On Sep 19, 2004 this sequence version replaced XM_373308.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..957
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..957
                     /gene="OR13C2"
                     /gene_synonym="OR37K"
                     /note="olfactory receptor family 13 subfamily C member 2"
                     /db_xref="GeneID:392376"
                     /db_xref="HGNC:HGNC:14701"
     CDS             1..957
                     /gene="OR13C2"
                     /gene_synonym="OR37K"
                     /note="olfactory receptor OR9-12"
                     /codon_start=1
                     /product="olfactory receptor 13C2"
                     /protein_id="NP_001004481.1"
                     /db_xref="CCDS:CCDS35092.1"
                     /db_xref="GeneID:392376"
                     /db_xref="HGNC:HGNC:14701"
                     /translation="MEWENHTILVEFFLKGLSGHPRLELLFFVLIFIMYVVILLGNGTL
                     ILISILDPHLHTPMYFFLGNLSFLDICYTTTSIPSTLVSFLSERKTISLSGCAVQMFLG
                     LAMGTTECVLLGMMAFDRYVAICNPLRYPIIMSKDAYVPMAAGSWIIGAVNSAVQSVFV
                     VQLPFCRNNIINHFTCEILAVMKLACADISDNEFIMLVATTLFILTPLLLIIVSYTLII
                     VSIFKISSSEGRSKASSTCSAHLTVVIIFYGTILFMYMKPKSKETLNSDDLDATDKIIS
                     MFYGVMTPMMNPLIYSLRNKDVKEAVKHLLNRRFFSK"
     misc_feature    13..15
                     /gene="OR13C2"
                     /gene_synonym="OR37K"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGS9.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR13C2"
                     /gene_synonym="OR37K"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS9.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR13C2"
                     /gene_synonym="OR37K"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS9.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR13C2"
                     /gene_synonym="OR37K"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS9.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR13C2"
                     /gene_synonym="OR37K"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS9.1);
                     transmembrane region"
     misc_feature    592..651
                     /gene="OR13C2"
                     /gene_synonym="OR37K"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS9.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR13C2"
                     /gene_synonym="OR37K"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS9.1);
                     transmembrane region"
     misc_feature    832..894
                     /gene="OR13C2"
                     /gene_synonym="OR37K"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS9.1);
                     transmembrane region"
ORIGIN
        1 atggaatggg aaaaccacac cattctggtg gaattttttc tgaagggact ttctggtcac
       61 ccaagacttg agttactctt ttttgtgctc atcttcataa tgtatgtggt catccttctg
      121 gggaatggta ctctcatttt aatcagcatc ttggaccctc accttcacac ccctatgtac
      181 ttctttctgg ggaacctctc cttcttggac atctgctaca ccaccacctc tattccctcc
      241 acgctagtga gcttcctttc agaaagaaag accatttccc tttctggctg tgcagtgcag
      301 atgttcctcg gcttggccat ggggacaaca gagtgtgtgc ttctgggcat gatggccttt
      361 gaccgctatg tggctatctg caaccctctg agatatccca tcatcatgag taaggatgcc
      421 tatgtaccca tggcagctgg gtcctggatc ataggagctg tcaattctgc agtacaatca
      481 gtgtttgtgg tacaattgcc tttctgcagg aataacatca tcaatcattt cacctgtgaa
      541 attctggctg tcatgaaact ggcctgtgct gacatctcag acaatgagtt catcatgctt
      601 gtggccacaa cattgttcat attgacacct ttgttattaa tcattgtctc ttacacgtta
      661 atcattgtga gcatcttcaa aattagctct tccgagggga gaagcaaagc ttcctctacc
      721 tgttcagccc atctgactgt ggtcataata ttctatggga ccatcctctt catgtacatg
      781 aagcccaagt ctaaagagac acttaattcg gatgacttgg atgctaccga caaaattata
      841 tccatgttct atggggtgat gactcccatg atgaatcctt taatctacag tcttagaaac
      901 aaggatgtga aagaggcagt aaaacaccta ctgaacagaa ggttctttag caagtga
//
LOCUS       NM_001004482             957 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 13 subfamily C member 5
            (OR13C5), mRNA.
ACCESSION   NM_001004482
VERSION     NM_001004482.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 957)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   2  (bases 1 to 957)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 957)
  AUTHORS   Hoppe R, Breer H and Strotmann J.
  TITLE     Organization and evolutionary relatedness of OR37 olfactory receptor
            genes in mouse and human
  JOURNAL   Genomics 82 (3), 355-364 (2003)
   PUBMED   12906860
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136842.1, SRR1660803.6279.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000374779.3/ ENSP00000363911.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL450426.7.
            On Sep 18, 2004 this sequence version replaced XM_071093.7.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..957
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..957
                     /gene="OR13C5"
                     /gene_synonym="OR9-11"
                     /note="olfactory receptor family 13 subfamily C member 5"
                     /db_xref="GeneID:138799"
                     /db_xref="HGNC:HGNC:15100"
     CDS             1..957
                     /gene="OR13C5"
                     /gene_synonym="OR9-11"
                     /note="olfactory receptor OR9-11"
                     /codon_start=1
                     /product="olfactory receptor 13C5"
                     /protein_id="NP_001004482.1"
                     /db_xref="CCDS:CCDS35091.1"
                     /db_xref="GeneID:138799"
                     /db_xref="HGNC:HGNC:15100"
                     /translation="MEWENHTILVEFFLKGLSGHPRLELLFFVLIFIMYVVILLGNGTL
                     ILISILDPHLHTPMYFFLGNLSFLDICYTTTSIPSTLVSFLSERKTISLSGCAVQMFLS
                     LAMGTTECVLLGVMAFDRYVAICNPLRYPIIMSKDAYVPMAAGSWIIGAVNSAVQTVFV
                     VQLPFCRNNIINHFTCEILAVMKLACADISGNEFILLVTTTLFLLTPLLLIIVSYTLII
                     LSIFKISSSEGRSKPSSTCSARLTVVITFCGTIFLMYMKPKSQETLNSDDLDATDKLIF
                     IFYRVMTPMMNPLIYSLRNKDVKEAVKHLLRRKNFNK"
     misc_feature    13..15
                     /gene="OR13C5"
                     /gene_synonym="OR9-11"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGS8.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR13C5"
                     /gene_synonym="OR9-11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS8.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR13C5"
                     /gene_synonym="OR9-11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS8.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR13C5"
                     /gene_synonym="OR9-11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS8.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR13C5"
                     /gene_synonym="OR9-11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS8.1);
                     transmembrane region"
     misc_feature    592..651
                     /gene="OR13C5"
                     /gene_synonym="OR9-11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS8.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR13C5"
                     /gene_synonym="OR9-11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS8.1);
                     transmembrane region"
     misc_feature    832..894
                     /gene="OR13C5"
                     /gene_synonym="OR9-11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS8.1);
                     transmembrane region"
ORIGIN
        1 atggaatggg aaaaccacac cattctggtg gaattttttc tgaagggact ttctggtcac
       61 ccaagacttg agttactctt ttttgtgctc atcttcataa tgtatgtggt catccttctg
      121 gggaatggta ctctcatttt aatcagcatc ttggaccctc accttcacac ccctatgtac
      181 ttctttctgg ggaacctctc cttcttggac atctgctaca ccaccacctc tattccctcc
      241 acgctagtga gcttcctttc agaaagaaag accatttccc tttctggctg tgcagtgcag
      301 atgttcctca gcttggccat ggggacaaca gagtgtgtgc ttctgggcgt gatggccttt
      361 gaccgctatg tggctatctg caaccctctg agatatccca tcatcatgag taaggatgcc
      421 tatgtaccca tggcagctgg gtcctggatc ataggagctg tcaattctgc agtacaaaca
      481 gtgtttgtgg tacaattgcc tttctgcagg aataacatca tcaatcattt cacctgtgaa
      541 attctagctg tcatgaaact ggcctgtgct gacatctcag gcaatgagtt catcctgctt
      601 gtgaccacaa cattgttcct attgacacct ttgttattaa ttattgtctc ttacacgtta
      661 atcattttga gcatcttcaa aattagctct tcggagggga gaagcaaacc ttcctctacc
      721 tgctcagctc gtctgactgt ggtgataaca ttctgtggga ccatcttcct catgtacatg
      781 aagcccaagt ctcaagagac acttaattca gatgacttgg atgccactga caaacttata
      841 ttcatattct acagggtgat gactcccatg atgaatcctt taatctacag tcttagaaac
      901 aaggatgtga aggaggcagt aaaacaccta ctgagaagaa aaaattttaa caagtaa
//
LOCUS       NM_001004483             963 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 13 subfamily C member 8
            (OR13C8), mRNA.
ACCESSION   NM_001004483
VERSION     NM_001004483.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 963)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   2  (bases 1 to 963)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 963)
  AUTHORS   Hoppe R, Breer H and Strotmann J.
  TITLE     Organization and evolutionary relatedness of OR37 olfactory receptor
            genes in mouse and human
  JOURNAL   Genomics 82 (3), 355-364 (2003)
   PUBMED   12906860
REFERENCE   4  (bases 1 to 963)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335040.1/ ENSP00000334068.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL450426.7.
            On Sep 18, 2004 this sequence version replaced XM_071096.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..963
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..963
                     /gene="OR13C8"
                     /gene_synonym="OR37H; OR9-10"
                     /note="olfactory receptor family 13 subfamily C member 8"
                     /db_xref="GeneID:138802"
                     /db_xref="HGNC:HGNC:15103"
     CDS             1..963
                     /gene="OR13C8"
                     /gene_synonym="OR37H; OR9-10"
                     /note="olfactory receptor OR9-10 pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 13C8"
                     /protein_id="NP_001004483.1"
                     /db_xref="CCDS:CCDS35090.1"
                     /db_xref="GeneID:138802"
                     /db_xref="HGNC:HGNC:15103"
                     /translation="MERTNDSTSTEFFLVGLSAHPKLQTVFFVLILWMYLMILLGNGVL
                     ISVIIFDSHLHTPMYFFLCNLSFLDVCYTSSSVPLILASFLAVKKKVSFSGCMVQMFIS
                     FAMGATECMILGTMALDRYVAICYPLRYPVIMSKGAYVAMAAGSWVTGLVDSVVQTAFA
                     MQLPFCANNVIKHFVCEILAILKLACADISINVISMTGSNLIVLVIPLLVISISYIFIV
                     ATILRIPSTEGKHKAFSTCSAHLTVVIIFYGTIFFMYAKPESKASVDSGNEDIIEALIS
                     LFYGVMTPMLNPLIYSLRNKDVKAAVKNILCRKNFSDGK"
     misc_feature    13..15
                     /gene="OR13C8"
                     /gene_synonym="OR37H; OR9-10"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGS7.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR13C8"
                     /gene_synonym="OR37H; OR9-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS7.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR13C8"
                     /gene_synonym="OR37H; OR9-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS7.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR13C8"
                     /gene_synonym="OR37H; OR9-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS7.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR13C8"
                     /gene_synonym="OR37H; OR9-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS7.1);
                     transmembrane region"
     misc_feature    592..651
                     /gene="OR13C8"
                     /gene_synonym="OR37H; OR9-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS7.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR13C8"
                     /gene_synonym="OR37H; OR9-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS7.1);
                     transmembrane region"
     misc_feature    832..894
                     /gene="OR13C8"
                     /gene_synonym="OR37H; OR9-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS7.1);
                     transmembrane region"
ORIGIN
        1 atggaaagga ccaacgattc cacgtcgaca gaatttttcc tggtagggct ttctgcccac
       61 ccaaagctcc agacagtttt cttcgttcta attttgtgga tgtacctgat gatcctgctt
      121 ggaaatggag tccttatctc agttatcatc tttgattctc acctgcacac ccccatgtat
      181 ttcttcctct gtaatctttc cttcctcgac gtttgctaca caagttcctc tgtcccacta
      241 attcttgcca gctttctggc agtaaagaaa aaggtttcct tctctgggtg tatggtgcaa
      301 atgtttattt cttttgccat gggggccacg gagtgcatga tcttaggcac gatggcactg
      361 gaccgctatg tggccatctg ctacccactg agataccctg tcatcatgag caagggtgcc
      421 tatgtggcca tggcagctgg gtcctgggtc actgggcttg tggactcagt agtgcagaca
      481 gcttttgcaa tgcagttacc attctgtgct aataatgtca ttaaacattt tgtctgtgaa
      541 attctggcta tcttgaaact ggcctgtgct gatatttcaa tcaatgtgat tagtatgaca
      601 gggtcgaatc tgattgttct ggttattcca ttgttagtaa tttccatctc ttacatattt
      661 attgttgcca ctattctgag gattccttcc actgaaggaa aacataaggc cttctccacc
      721 tgctcagccc acctgacagt ggtgattata ttctatggaa ccatcttctt catgtacgca
      781 aagcctgagt ctaaagcctc tgttgattca ggtaatgaag acatcattga ggccctcatc
      841 tcccttttct atggagtgat gactcccatg cttaatcctc tcatctatag tctgcgaaac
      901 aaggatgtaa aggctgctgt caaaaacata ctgtgtagga aaaacttttc tgatggaaaa
      961 tga
//
LOCUS       NM_001004484             945 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 13 subfamily D member 1
            (OR13D1), mRNA.
ACCESSION   NM_001004484
VERSION     NM_001004484.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 945)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC140916.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000641530.1/ ENSP00000493337.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL359846.11.
            On Nov 18, 2020 this sequence version replaced NM_001004484.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..945
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..945
                     /gene="OR13D1"
                     /gene_synonym="OR9-15"
                     /note="olfactory receptor family 13 subfamily D member 1"
                     /db_xref="GeneID:286365"
                     /db_xref="HGNC:HGNC:14695"
     CDS             1..945
                     /gene="OR13D1"
                     /gene_synonym="OR9-15"
                     /note="olfactory receptor OR9-15"
                     /codon_start=1
                     /product="olfactory receptor 13D1"
                     /protein_id="NP_001004484.2"
                     /db_xref="CCDS:CCDS35094.2"
                     /db_xref="GeneID:286365"
                     /db_xref="HGNC:HGNC:14695"
                     /translation="METRNYSAMTEFFLVGLSQYPELQLFLFLLCLIMYMIILLGNSLL
                     IIITILDSRLHTPMYFFLGNLSFLDICYTSSSIPPMLIIFMSERKSISFIGCALQMVVS
                     LGLGSTECVLLAVMAYDHYVAICNPLRYSIIMNGVLYVQMAAWSWIIGCLTSLLQTVLT
                     MMLPFCGNNVIDHITCEILALLKLVCSDITINVLIMTVTNIVSLVILLLLIFISYVFIL
                     SSILRINCAEGRKKAFSTCSAHSIVVILFYGSALFMYMKPKSKNTNTSDEIIGLSYGVV
                     SPMLNPIIYSLRNKEVKEAVKKVLSRHLHLLKM"
ORIGIN
        1 atggagacaa gaaattactc tgccatgact gaattctttc tggtggggct ttcccaatat
       61 ccagagctcc agctttttct gttcctgctc tgcctcatca tgtacatgat aatcctcctg
      121 ggaaatagcc tcctcattat catcaccatc ttggattctc gcctccatac tcccatgtat
      181 ttctttcttg gaaacctctc attcttggac atctgttaca catcctcatc cattcctcca
      241 atgcttatta tatttatgtc tgagagaaaa tccatctcct tcattggctg tgctctgcag
      301 atggttgtgt cccttggctt gggctccact gagtgtgtcc tcctggctgt gatggcctat
      361 gaccactatg tggccatctg caacccactg aggtactcca tcatcatgaa cggagtgctg
      421 tatgtgcaaa tggctgcatg gtcctggatc ataggctgtc tgacctccct attgcaaaca
      481 gttctgacaa tgatgttgcc tttctgtggg aataatgtca ttgatcatat tacctgtgaa
      541 attttggccc ttctaaaact tgtttgttca gatatcacca tcaatgtgct tatcatgaca
      601 gtgacaaata ttgtttcact ggtgattctt ctactgttaa ttttcatctc ctatgtgttt
      661 attctctctt ccatcctgag aattaattgt gctgagggaa gaaagaaagc cttctctacc
      721 tgttcagcgc actcgattgt ggtcatctta ttctacggtt cagccctttt tatgtacatg
      781 aaacccaagt caaagaacac taatacatct gatgagatta ttgggctgtc ttatggagtg
      841 gtaagcccaa tgttaaatcc catcatctat agcctcagga ataaagaggt caaagaggct
      901 gtaaagaaag tcctgagcag acatctgcat ttattgaaaa tgtga
//
LOCUS       NM_001004485             960 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 13 subfamily F member 1
            (OR13F1), mRNA.
ACCESSION   NM_001004485
VERSION     NM_001004485.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 960)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   2  (bases 1 to 960)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC140739.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000334726.3/ ENSP00000334452.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL450426.7.
            On Sep 18, 2004 this sequence version replaced XM_071099.6.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..960
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..960
                     /gene="OR13F1"
                     /gene_synonym="OR9-6"
                     /note="olfactory receptor family 13 subfamily F member 1"
                     /db_xref="GeneID:138805"
                     /db_xref="HGNC:HGNC:14723"
     CDS             1..960
                     /gene="OR13F1"
                     /gene_synonym="OR9-6"
                     /note="olfactory receptor OR9-6"
                     /codon_start=1
                     /product="olfactory receptor 13F1"
                     /protein_id="NP_001004485.1"
                     /db_xref="CCDS:CCDS35087.1"
                     /db_xref="GeneID:138805"
                     /db_xref="HGNC:HGNC:14723"
                     /translation="MFPANWTSVKVFFFLGFFHYPKVQVIIFAVCLLMYLITLLGNIFL
                     ISITILDSHLHTPMYLFLSNLSFLDIWYSSSALSPMLANFVSGRNTISFSGCATQMYLS
                     LAMGSTECVLLPMMAYDRYVAICNPLRYPVIMNRRTCVQIAAGSWMTGCLTAMVEMMSV
                     LPLSLCGNSIINHFTCEILAILKLVCVDTSLVQLIMLVISVLLLPMPMLLICISYAFIL
                     ASILRISSVEGRSKAFSTCTAHLMVVVLFYGTALSMHLKPSAVDSQEIDKFMALVYAGQ
                     TPMLNPIIYSLRNKEVKVALKKLLIRNHFNTAFISILK"
     misc_feature    13..15
                     /gene="OR13F1"
                     /gene_synonym="OR9-6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGS4.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR13F1"
                     /gene_synonym="OR9-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS4.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR13F1"
                     /gene_synonym="OR9-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS4.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR13F1"
                     /gene_synonym="OR9-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS4.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR13F1"
                     /gene_synonym="OR9-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS4.1);
                     transmembrane region"
     misc_feature    592..651
                     /gene="OR13F1"
                     /gene_synonym="OR9-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS4.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR13F1"
                     /gene_synonym="OR9-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS4.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR13F1"
                     /gene_synonym="OR9-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGS4.1);
                     transmembrane region"
ORIGIN
        1 atgttcccgg caaattggac atctgtaaaa gtatttttct tcctgggatt ttttcactac
       61 cccaaagttc aggtcatcat atttgcggtg tgcttgctga tgtacctgat caccttgctg
      121 ggcaacattt ttctgatctc catcaccatt ctagattccc acctgcacac ccctatgtac
      181 ctcttcctca gcaatctctc ctttctggac atctggtact cctcttctgc cctctctcca
      241 atgctggcaa actttgtttc agggagaaac actatttcat tctcagggtg cgccactcag
      301 atgtacctct cccttgccat gggctccact gagtgtgtgc tcctgcccat gatggcatat
      361 gaccggtatg tggccatctg caaccccctg agataccctg tcatcatgaa taggagaacc
      421 tgtgtgcaga ttgcagctgg ctcctggatg acaggctgtc tcactgccat ggtggaaatg
      481 atgtctgtgc tgccactgtc tctctgtggt aatagcatca tcaatcattt cacttgtgaa
      541 attctggcca tcttgaaatt ggtttgtgtg gacacctccc tggtgcagtt aatcatgctg
      601 gtgatcagtg tacttcttct ccccatgcca atgctactca tttgtatctc ttatgcattt
      661 atcctcgcca gtatcctgag aatcagctca gtggaaggtc gaagtaaagc cttttcaacg
      721 tgcacagccc acctgatggt ggtagttttg ttctatggga cggctctctc catgcacctg
      781 aagccctccg ctgtagattc acaggaaata gacaaattta tggctttggt gtatgccgga
      841 caaaccccca tgttgaatcc tatcatctat agtctacgga acaaagaggt gaaagtggcc
      901 ttgaaaaaat tgctgattag aaatcatttt aatactgcct tcatttccat cctcaaataa
//
LOCUS       NM_001004486             927 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 13 subfamily H member 1
            (OR13H1), mRNA.
ACCESSION   NM_001004486
VERSION     NM_001004486.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 927)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer
            M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL,
            Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME,
            Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R,
            Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson
            A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler
            DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S,
            Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker
            GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O,
            Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman
            AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P,
            Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel
            L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z,
            Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S,
            Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS,
            Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O,
            Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H,
            Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T,
            Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis
            F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner
            G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R,
            Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S,
            Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume
            J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de
            Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis
            P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK,
            Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM,
            Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J,
            Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl
            P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S,
            Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN,
            Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S,
            Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey
            Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG,
            Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD,
            Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann
            RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K,
            Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M,
            Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry
            GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey
            DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L,
            Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S,
            Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A,
            Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM,
            Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R,
            Hubbard T, Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   2  (bases 1 to 927)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 927)
  AUTHORS   Gilad Y, Bustamante CD, Lancet D and Paabo S.
  TITLE     Natural selection on the olfactory receptor gene family in humans
            and chimpanzees
  JOURNAL   Am J Hum Genet 73 (3), 489-501 (2003)
   PUBMED   12908129
REFERENCE   4  (bases 1 to 927)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
REFERENCE   5  (bases 1 to 927)
  AUTHORS   Vanderhaeghen P, Schurmans S, Vassart G and Parmentier M.
  TITLE     Molecular cloning and chromosomal mapping of olfactory receptor
            genes expressed in the male germ line: evidence for their wide
            distribution in the human genome
  JOURNAL   Biochem Biophys Res Commun 237 (2), 283-287 (1997)
   PUBMED   9268701
REFERENCE   6  (bases 1 to 927)
  AUTHORS   Parmentier M, Libert F, Schurmans S, Schiffmann S, Lefort A,
            Eggerickx D, Ledent C, Mollereau C, Gerard C, Perret J et al.
  TITLE     Expression of members of the putative olfactory receptor gene family
            in mammalian germ cells
  JOURNAL   Nature 355 (6359), 453-455 (1992)
   PUBMED   1370859
REFERENCE   7  (bases 1 to 927)
  AUTHORS   Buck L and Axel R.
  TITLE     A novel multigene family may encode odorant receptors: a molecular
            basis for odor recognition
  JOURNAL   Cell 65 (1), 175-187 (1991)
   PUBMED   1840504
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338616.6/ ENSP00000340748.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065938.1.
            On Sep 18, 2004 this sequence version replaced XM_293366.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..927
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.2"
     gene            1..927
                     /gene="OR13H1"
                     /gene_synonym="ORX1"
                     /note="olfactory receptor family 13 subfamily H member 1"
                     /db_xref="GeneID:347468"
                     /db_xref="HGNC:HGNC:14755"
     CDS             1..927
                     /gene="OR13H1"
                     /gene_synonym="ORX1"
                     /note="olfactory receptor ORX1; olfactory receptor ORX-1"
                     /codon_start=1
                     /product="olfactory receptor 13H1"
                     /protein_id="NP_001004486.1"
                     /db_xref="CCDS:CCDS35396.1"
                     /db_xref="GeneID:347468"
                     /db_xref="HGNC:HGNC:14755"
                     /translation="MAMDNVTAVFQFLLIGISNYPQWRDTFFTLVLIIYLSTLLGNGFM
                     IFLIHFDPNLHTPIYFFLSNLSFLDLCYGTASMPQALVHCFSTHPYLSYPRCLAQTSVS
                     LALATAECLLLAAMAYDRVVAISNPLRYSVVMNGPVCVCLVATSWGTSLVLTAMLILSL
                     RLHFCGANVINHFACEILSLIKLTCSDTSLNEFMILITSIFTLLLPFGFVLLSYIRIAM
                     AIIRIRSLQGRLKAFTTCGSHLTVVTIFYGSAISMYMKTQSKSYPDQDKFISVFYGALT
                     PMLNPLIYSLRKKDVKRAIRKVMLKRT"
     misc_feature    13..15
                     /gene="OR13H1"
                     /gene_synonym="ORX1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NG92.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR13H1"
                     /gene_synonym="ORX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG92.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR13H1"
                     /gene_synonym="ORX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG92.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR13H1"
                     /gene_synonym="ORX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG92.1);
                     transmembrane region"
     misc_feature    418..477
                     /gene="OR13H1"
                     /gene_synonym="ORX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG92.1);
                     transmembrane region"
     misc_feature    589..648
                     /gene="OR13H1"
                     /gene_synonym="ORX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG92.1);
                     transmembrane region"
     misc_feature    709..771
                     /gene="OR13H1"
                     /gene_synonym="ORX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG92.1);
                     transmembrane region"
     misc_feature    811..873
                     /gene="OR13H1"
                     /gene_synonym="ORX1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG92.1);
                     transmembrane region"
ORIGIN
        1 atggccatgg acaatgtcac agcagtgttt cagtttctcc ttattggcat ttctaactat
       61 cctcaatgga gagacacgtt tttcacatta gtgctgataa tttacctcag cacattgttg
      121 gggaatggat ttatgatctt tcttattcac tttgacccca acctccacac tccaatctac
      181 ttcttcctta gtaacctgtc tttcttagac ctttgttatg gaacagcttc catgccccag
      241 gctttggtgc attgtttctc tacccatccc tacctctctt atccccgatg tttggctcaa
      301 acgagtgtct ccttggcttt ggccacagca gagtgcctcc tactggctgc catggcctat
      361 gaccgtgtgg ttgctatcag caatcccctg cgttattcag tggttatgaa tggcccagta
      421 tgtgtctgct tggttgctac ctcatggggg acatcacttg tgctcactgc catgctcatc
      481 ctatccctga ggcttcactt ctgtggggct aatgtcatca accattttgc ctgtgagatt
      541 ctctccctca ttaagctgac ctgttctgat accagcctca atgaatttat gatcctcatc
      601 accagtatct tcaccctgct gctaccattt gggtttgttc tcctctccta catacgaatt
      661 gctatggcta tcataaggat tcgctcactc cagggcaggc tcaaggcctt taccacatgt
      721 ggctctcacc tgaccgtggt gacaatcttc tatgggtcag ccatctccat gtatatgaaa
      781 actcagtcca agtcctaccc tgaccaggac aagtttatct cagtgtttta tggagctttg
      841 acacccatgt tgaaccccct gatatatagc ctgagaaaaa aagatgttaa acgggcaata
      901 aggaaagtta tgttgaaaag gacatga
//
LOCUS       NM_001004487             939 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 13 subfamily J member 1
            (OR13J1), mRNA.
ACCESSION   NM_001004487
VERSION     NM_001004487.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   2  (bases 1 to 939)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 939)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377981.4/ ENSP00000367219.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065705.1.
            On Sep 18, 2004 this sequence version replaced XM_373289.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..939
                     /gene="OR13J1"
                     /gene_synonym="OR9-2"
                     /note="olfactory receptor family 13 subfamily J member 1"
                     /db_xref="GeneID:392309"
                     /db_xref="HGNC:HGNC:15108"
     CDS             1..939
                     /gene="OR13J1"
                     /gene_synonym="OR9-2"
                     /note="olfactory receptor OR9-2"
                     /codon_start=1
                     /product="olfactory receptor 13J1"
                     /protein_id="NP_001004487.1"
                     /db_xref="CCDS:CCDS35011.1"
                     /db_xref="GeneID:392309"
                     /db_xref="HGNC:HGNC:15108"
                     /translation="MEPLNRTEVSEFFLKGFSGYPALEHLLFPLCSAMYLVTLLGNTAI
                     MAVSVLDIHLHTPVYFFLGNLSTLDICYTPTFVPLMLVHLLSSRKTISFAVCAIQMCLS
                     LSTGSTECLLLAITAYDRYLAICQPLRYHVLMSHRLCVLLMGAAWVLCLLKSVTEMVIS
                     MRLPFCGHHVVSHFTCKILAVLKLACGNTSVSEDFLLAGSILLLPVPLAFICLSYLLIL
                     ATILRVPSAARCCKAFSTCLAHLAVVLLFYGTIIFMYLKPKSKEAHISDEVFTVLYAMV
                     TTMLNPTIYSLRNKEVKEAARKVWGRSRASR"
     misc_feature    13..15
                     /gene="OR13J1"
                     /gene_synonym="OR9-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGT2.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR13J1"
                     /gene_synonym="OR9-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT2.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR13J1"
                     /gene_synonym="OR9-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT2.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR13J1"
                     /gene_synonym="OR9-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT2.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR13J1"
                     /gene_synonym="OR9-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT2.1);
                     transmembrane region"
     misc_feature    571..573
                     /gene="OR13J1"
                     /gene_synonym="OR9-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGT2.1); glycosylation site"
     misc_feature    592..651
                     /gene="OR13J1"
                     /gene_synonym="OR9-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT2.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR13J1"
                     /gene_synonym="OR9-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT2.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR13J1"
                     /gene_synonym="OR9-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT2.1);
                     transmembrane region"
ORIGIN
        1 atggagccgc tcaacagaac agaggtgtcc gagttctttc tgaaaggatt ttctggctac
       61 ccagccctgg agcatctgct cttccctctg tgctcagcca tgtacctggt gaccctcctg
      121 gggaacacag ccatcatggc ggtgagcgtg ctagatatcc acctgcacac gcccgtgtac
      181 ttcttcctgg gcaacctctc taccctggac atctgctaca cgcccacctt tgtgcctctg
      241 atgctggtcc acctcctgtc atcccggaag accatctcct ttgctgtctg tgccatccag
      301 atgtgtctga gcctgtccac gggctccacg gagtgcctgc tactggccat cacggcctat
      361 gaccgctacc tggccatctg ccagccactc aggtaccacg tgctcatgag ccaccggctc
      421 tgcgtgctgc tgatgggagc tgcctgggtc ctctgcctcc tcaagtcggt gactgagatg
      481 gtcatctcca tgaggctgcc cttctgtggc caccacgtgg tcagtcactt cacctgcaag
      541 atcctggcag tgctgaagct ggcatgcggc aacacgtcgg tcagcgaaga cttcctgctg
      601 gcgggctcca tcctgctgct gcctgtaccc ctggcattca tctgcctgtc ctacttgctc
      661 atcctggcca ccatcctgag ggtgccctcg gccgccaggt gctgcaaagc cttctccacc
      721 tgcttggcac acctggctgt agtgctgctt ttctacggca ccatcatctt catgtacttg
      781 aagcccaaga gtaaggaagc ccacatctct gatgaggtct tcacagtcct ctatgccatg
      841 gtcacgacca tgctgaaccc caccatctac agcctgagga acaaggaggt gaaggaggcc
      901 gccaggaagg tgtggggcag gagtcgggcc tccaggtga
//
LOCUS       NM_001004489            6993 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily AG member 1
            (OR2AG1), mRNA.
ACCESSION   NM_001004489
VERSION     NM_001004489.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6993)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6993)
  AUTHORS   Dooley R, Baumgart S, Rasche S, Hatt H and Neuhaus EM.
  TITLE     Olfactory receptor signaling is regulated by the post-synaptic
            density 95, Drosophila discs large, zona-occludens 1 (PDZ) scaffold
            multi-PDZ domain protein 1
  JOURNAL   FEBS J 276 (24), 7279-7290 (2009)
   PUBMED   19909339
REFERENCE   3  (bases 1 to 6993)
  AUTHORS   Mashukova A, Spehr M, Hatt H and Neuhaus EM.
  TITLE     Beta-arrestin2-mediated internalization of mammalian odorant
            receptors
  JOURNAL   J Neurosci 26 (39), 9902-9912 (2006)
   PUBMED   17005854
  REMARK    GeneRIF: OR2AG1 binds beta-arrestin2 with high affinity and is
            internalized via a clathrin-dependent mechanism.
REFERENCE   4  (bases 1 to 6993)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6993)
  AUTHORS   Neuhaus EM, Mashukova A, Zhang W, Barbour J and Hatt H.
  TITLE     A specific heat shock protein enhances the expression of mammalian
            olfactory receptor proteins
  JOURNAL   Chem Senses 31 (5), 445-452 (2006)
   PUBMED   16565291
  REMARK    GeneRIF: The Hsc70t helps expression of OR2AG1 in heterologous cell
            systems and helped the characterization of an 'orphan' human
            olfactory receptor.
REFERENCE   6  (bases 1 to 6993)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   7  (bases 1 to 6993)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
REFERENCE   8  (bases 1 to 6993)
  AUTHORS   Lane RP, Cutforth T, Young J, Athanasiou M, Friedman C, Rowen L,
            Evans G, Axel R, Hood L and Trask BJ.
  TITLE     Genomic analysis of orthologous mouse and human olfactory receptor
            loci
  JOURNAL   Proc Natl Acad Sci U S A 98 (13), 7390-7395 (2001)
   PUBMED   11416212
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2467148
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641258.1/ ENSP00000493074.1
            polymorphic pseudogene :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC087280.11.
            On Aug 21, 2020 this sequence version replaced NM_001004489.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jul 2015].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            CCDS Note: This olfactory receptor gene is a segregating pseudogene
            (PMID:22908908), where some individuals have an allele that encodes
            a functional olfactory receptor, while other individuals have an
            allele that is predicted to be non-functional. This CCDS is being
            retained because the Classifier for Olfactory Receptor Pseudogenes
            (CORP) predicts the reference genome allele to be functional.
FEATURES             Location/Qualifiers
     source          1..6993
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..6993
                     /gene="OR2AG1"
                     /gene_synonym="OR11-79; OR2AG3"
                     /note="olfactory receptor family 2 subfamily AG member 1"
                     /db_xref="GeneID:144125"
                     /db_xref="HGNC:HGNC:15142"
     misc_feature    449..451
                     /gene="OR2AG1"
                     /gene_synonym="OR11-79; OR2AG3"
                     /note="upstream in-frame stop codon"
     CDS             473..1423
                     /gene="OR2AG1"
                     /gene_synonym="OR11-79; OR2AG3"
                     /note="olfactory receptor, family 2, subfamily AG, member
                     3; olfactory receptor OR11-79; hT3 olfactory receptor;
                     olfactory receptor 2AG3"
                     /codon_start=1
                     /product="olfactory receptor 2AG1"
                     /protein_id="NP_001004489.1"
                     /db_xref="CCDS:CCDS31414.1"
                     /db_xref="GeneID:144125"
                     /db_xref="HGNC:HGNC:15142"
                     /translation="MELWNFTLGSGFILVGILNDSGSPELLCATITILYLLALISNGLL
                     LLAITMEARLHMPMYLLLGQLSLMDLLFTSVVTPKALADFLRRENTISFGGCALQMFLA
                     LTMGGAEDLLLAFMAYDRYVAICHPLTYMTLMSSRACWLMVATSWILASLSALIYTVYT
                     MHYPFCRAQEIRHLLCEIPHLLKVACADTSRYELMVYVMGVTFLIPSLAAILASYTQIL
                     LTVLHMPSNEGRKKALVTCSSHLTVVGMFYGAATFMYVLPSSFHSTRQDNIISVFYTIV
                     TPALNPLIYSLRNKEVMRALRRVLGKYMLPAHSTL"
     misc_feature    485..487
                     /gene="OR2AG1"
                     /gene_synonym="OR11-79; OR2AG3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9H205.2); glycosylation site"
     misc_feature    527..529
                     /gene="OR2AG1"
                     /gene_synonym="OR11-79; OR2AG3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9H205.2); glycosylation site"
     misc_feature    548..619
                     /gene="OR2AG1"
                     /gene_synonym="OR11-79; OR2AG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H205.2);
                     transmembrane region"
     misc_feature    644..709
                     /gene="OR2AG1"
                     /gene_synonym="OR11-79; OR2AG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H205.2);
                     transmembrane region"
     misc_feature    773..832
                     /gene="OR2AG1"
                     /gene_synonym="OR11-79; OR2AG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H205.2);
                     transmembrane region"
     misc_feature    890..946
                     /gene="OR2AG1"
                     /gene_synonym="OR11-79; OR2AG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H205.2);
                     transmembrane region"
     misc_feature    1058..1129
                     /gene="OR2AG1"
                     /gene_synonym="OR11-79; OR2AG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H205.2);
                     transmembrane region"
     misc_feature    1181..1249
                     /gene="OR2AG1"
                     /gene_synonym="OR11-79; OR2AG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H205.2);
                     transmembrane region"
     misc_feature    1289..1348
                     /gene="OR2AG1"
                     /gene_synonym="OR11-79; OR2AG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H205.2);
                     transmembrane region"
ORIGIN
        1 tatctttgct ccctgacccc agcaagaatg aaggaaagtc tgagtatctg aacccaagaa
       61 ctcagtctgg taactgctct agggctagag gggctctctc cctggcaacc tgtatgaaag
      121 tagttgctac tagttcttca caggcgtgag aacaagaaag taatcttctt cctatatagg
      181 aaactaccca aattctgtat tagctgtctg cctgcatcca ctgctatctc tagggtagac
      241 ctgcagataa gtggaaggaa tagaagggcc ctgacatctg atctcactag tacttttcag
      301 acacttaacc caacttggca atattaaacc aactgaacac tgctgaagaa agccacgtcc
      361 tttcttccca tttcgactgg aacatccttg aacttcaaac aatccctagg aaagtctgag
      421 tggtcggaca gctaagcttc tcacaacctg aggtgatgaa agaaaccaca gcatggagct
      481 ctggaacttc accttgggaa gtggcttcat tttggtgggg attctgaatg acagtgggtc
      541 tcctgaactg ctctgtgcta caattacaat cctatacttg ttggccctga tcagcaatgg
      601 cctactgctc ctggctatca ccatggaagc ccggctccac atgcccatgt acctcctgct
      661 tgggcagctc tctctcatgg acctcctgtt cacatctgtt gtcactccca aggcccttgc
      721 ggactttctg cgcagagaaa acaccatctc ctttggaggc tgtgcccttc agatgttcct
      781 ggcactgaca atgggtggtg ctgaggacct cctactggcc ttcatggcct atgacaggta
      841 tgtggccatt tgtcatcctc tgacatacat gaccctcatg agctcaagag cctgctggct
      901 catggtggcc acgtcctgga tcctggcatc cctaagtgcc ctaatatata ccgtgtatac
      961 catgcactat cccttctgca gggcccagga gatcaggcat cttctctgtg agatcccaca
     1021 cttgctgaag gtggcctgtg ctgatacctc cagatatgag ctcatggtat atgtgatggg
     1081 tgtgaccttc ctgattccct ctcttgctgc tatactggcc tcctatacac aaattctact
     1141 cactgtgctc catatgccat caaatgaggg gaggaagaaa gcccttgtca cctgctcttc
     1201 ccacctgact gtggttggga tgttctatgg agctgccaca ttcatgtatg tcttgcccag
     1261 ttccttccac agcaccagac aagacaacat catctctgtt ttctacacaa ttgtcactcc
     1321 agccctgaat ccactcatct acagcctgag gaataaggag gtcatgcggg ccttgaggag
     1381 ggtcctggga aaatacatgc tgccagcaca ctccacgctc tagggaagga tcatggctag
     1441 cttccagaat tccttctcct gagagtcaaa agattcatgt tatgaatcaa atactaatgg
     1501 taaaaccaat acagtgcaga gtatagcatt taatagaaaa gtgaaggaat gtaactggat
     1561 ttgtcaaatg ctctttaaat cttctctcca tgaagtaatt tatagggcat gatttacact
     1621 atctaaaatt actcttcact ctatttaaaa tttaatcttt attttcccag gaaggtattt
     1681 agttaaatgg gttcccacct tgggacatga cccctaacct tcgaagttta tattggatca
     1741 gggaaaggaa aagaaccaga gaaaggaaag tttcaagtgg gtggtgtaag taaaacccag
     1801 acatcaaagg gggagatgtc ttgagatttg cacaaattta gaccaactga ccttattaaa
     1861 aggttatata gacttcttgt ctaatgcccc aactggtagt agtttgcttg tatttgcatt
     1921 gtacttgctc ttttttttct ttctaaacat cagccatatg aaacactcta acaagtgtct
     1981 ttgcttgttt gtttttgttt gttggttttt gacatggaga tactttatag ttcctaaaat
     2041 gcaattatta ataaaatgaa gaaaatagga ggtgaaggta gtccataagc aaggttcatg
     2101 ataaacaact ttgcttattt cttgctaata caaaaacaaa caagcaaaat agtgattttc
     2161 cattatccaa ggctatcttg taacattcca accattgcag tgttcacatg catggtgggt
     2221 gtggatattt aagtcagtgt gtctgtgtgt ttgtgctaaa gatggagagg acaacataat
     2281 gcattttctc accagcttaa ttatgctgca ctactattag tttgtctata agtctgagaa
     2341 tattgaaaac aaaagatgtg aacaaaagct gtgagttgca ttttgaagat taaaaataat
     2401 ataaaatgat atggctaatt acatgacact cttttggggg atattgctgt ttgaagattc
     2461 gctaacgctt tttaaatcaa ttcctatagt aatttaaaac agtaactgag actaggttca
     2521 gaaagtatag tagtagtata tcatgtttgg aaggcaaggc tgagtagaga taattcctac
     2581 acgtatttat atgaatttcc ttccatttta atacaggcat gcattttact gagttgatgt
     2641 gtgtgtgtaa aacagatttt tttaacctac aagcatatag ttatttttcc tatattatat
     2701 agtggcagta tacagcactg caaagagtct agggtcagct atcagcgtac agaagttaga
     2761 attgaataca ccccacttat ttctataact tttagcatat tacttaacct gtttgtgccc
     2821 aagtctgcaa gtttgcaaag tgtaagttga cattaacaat aagacctact ttgtagtgtt
     2881 gtgaggatga aacaagttag taaatataaa tataaagaca tctttatact tgtaatcagc
     2941 atgtgtcgta taataagtat ttaataaatt taacacctac agaataaatg gccctgaaaa
     3001 tactgttgag tgatggtata atgttacatc atatgggtgt tttgtaacat tattagctat
     3061 tttatcattg ttttaccttt aacattgtcg tgtgtgtgtg tgtgtgtgtg tgtgtgtgta
     3121 tgtctctgtg tgtgtgtgta tgtgtgtgtg aaatcaataa tgtcaatctc ttggatgtgt
     3181 gacttttttt ctatagaaaa ttcctatgag tgaaattact cgaaccaagg ttaaaaatct
     3241 gtttaatact cttcatatga aaagacaaat tgttttctta aaatgttaaa tattttgcat
     3301 tcttaccagc aacatataag tgtacttagc ccactacata ttttttcatg ttaaatttta
     3361 catataagta gtcttcacta attgataagg tataaaattt gcctatttta atttgcttaa
     3421 gtaacttgtc cacagttttc ttattgattt gttgaagttt ttttacaggt taggaacacg
     3481 gagactttgt tatatttgtg gtaataactt cttttcaatt tgttatttgg cttctaatat
     3541 ctgcatggca gagattttta gaaagagaaa tatttaaaat atttgtatag tgaaggatat
     3601 cttttatttt tttttccagt gatttttact gttaggatat aattttctat tctcattgac
     3661 gtctttgctg tgcatcatac agttcaattt aggtaacaat ttatatattt tatgtgtttt
     3721 gtcactctat atgtttaact ttaacaataa atgtcaaact tatctttaca tgtgaaaatg
     3781 atgatatttc aacttttgtc aaaggtacca tttttctagc aatattttaa agtaatcctt
     3841 tcattttcta ttattttact accttcatca gacatgttct agtaagctat attttggcta
     3901 actcttcagt tctagcttct ttctcctctt tactcttttg gaagacattt gattctatca
     3961 ttcacatctt aatagctcac ttgtaatttg attgtgaata tatttaactg ataaattaat
     4021 ttgtaatttg agcatttttt acaatactca gccttgcctt cctgaacatg gtgcatgact
     4081 atacttctgg aacctagtct cagtcagttt taaaatgaac attccacacc atcattctaa
     4141 gctgatgcct tgcctcacac ttcactagaa cagaagcagt tggctacaaa gccctcttca
     4201 aatcctccac atatctgtgc ctgcgtgtac acttcctgtt ttccctcatt ataactgctt
     4261 gaacccggga ggcagagact gcagtgagcc gagattgcac cactgcactc cagcctgggc
     4321 aacagagtga gattctgtca caaaataaat aaataaataa ataaataaat aaataaataa
     4381 ataaataaag taagaagtct ttgcatgact ccaatccccc tcagtaactg tagcattatt
     4441 ttcagcttct cttcacagga aaaaaaaaaa atacaaaggg aacacttatg cccattttct
     4501 cctctgctga tcttctattc gcatcttaac acactttcaa tcaagctctg gtctctttct
     4561 atggacctgt tctttgtgaa aattatcatt aatgtgctaa ataaaatgtc tacctccata
     4621 ttctccttca tcaacctttc agcaacattg atataattga cctcaccctt ctgttgggaa
     4681 atttttcttc ttttggcttc cagacaccac acaactctgg cttgcttctt taatccctaa
     4741 ccttttttgc cttattggat tcgtttttct ttctgaatgt ttccacattc agatgataca
     4801 aacatggact tccctgtctt ctcaatcaag aatctcttcc tgagtaattt catccactta
     4861 catagattta agttctgtcc atatgctttt gagtcccaaa gacctcacta cttgtataat
     4921 ccacagactc aaaaaattag ccgggtgtga tggtggatgc ctgtaattcc agctacacag
     4981 gaggctgagg caggagaatc gcttgaacct gggaggagga ggttgcagtg aggcaagatc
     5041 gcgccattgc actccagctt gggcaacaag agcgaaaccc catctcagaa aacaaacaaa
     5101 caaacaaaca aaaaaacaaa aaacaacgag atatcacgtc ttgcctgtta gtattatttt
     5161 tgaaaaccaa aaaagtcaaa gcaaaacaag tgttggtagg tatggggaga aaatggaacc
     5221 tgtgtacaca attcatggga atgtaaaatg gtacagccat tatggaaaac agtatggagg
     5281 tctaaagatt caaactatta ctactgtatg atccaagatt cccacttctg actatatatc
     5341 caaaggtaat taaatcgctg tttccaagac atatttgcac tccatgttta ttgcagcatg
     5401 attcacaata gacaaaatat tggaaacaac ctaagagtct atcaacagac caatggataa
     5461 agaaaatgtg gtctatttat acaatagaat attatttacc cttaaaaggg aaggacactc
     5521 tgtcatttgc aatgaaatag accaacctgg aggacattat gctatgtgga ataagcccaa
     5581 cacagaaata caaatgctgt ctaattttgc ttaatgcgga agctagaaaa gagtctaact
     5641 cagtaataga gagtacagtg gtgtttgcca agggtttggg gtgactgtgg gaggaaatga
     5701 aaaatattag tcaacagata caaactttta tttttaagat gaataatttc tgaggttcca
     5761 acatatagca tggtgactga agttaataaa aatgtgtact tgaaatttgc tgcagaagta
     5821 gatgtcacgt gttctcacaa cacacacgca cagagggtaa gtatgtaagg tgattgatat
     5881 gttgctctgt taattagctt gcatgtggtc atcatttcac agggtatacg tatatcaaat
     5941 catcacactg tataccttaa atacattcta gtcatatttg tcaaccatat ctcaataaag
     6001 ttggaaaaaa aagaaaacta tgggcaaatt atacataata ataaacataa aaaatcattt
     6061 gaaaacattt ctaaagctgc tttgtcttca ttataggaat gtaaaatatt acctctgctg
     6121 gaatatgaac tacacccagg atttgaatag tacaaattag atgagacgac ttgcagtgta
     6181 gagccctcta ggctttcagc ctagaacagg aaggaacgca gagtaatgac agcaaacagt
     6241 gaagctatag gataataatt cctcctcagt gacaagaggc cccaccactg ctttggactc
     6301 caggaagcac tcagacatta acatctgtga agtgtgccct gcatgctaag aaaagggtga
     6361 actgacagac ccttctgtcc atcaagtcat ccacagccta gttatttctg tctctgctgc
     6421 taattgtgcc aaaagtaacc ataaaatctg gagtcaactg ctagaagttt tgcaagaaca
     6481 aaggccaagg agatgcactt gtgtcttggt gagtagccaa agttagctgc agggagctga
     6541 agcaagggac tgaaaaaatg agaagtctta gaaaatgttc tccagtcctt gaggatctga
     6601 aggcctatgt gtgactgata tttggtggag aagaacggac ctagctcttt ccccactcca
     6661 accaaccaaa atctttgttg aaaggcatat tgtgtattgt cactaattct gggaaggcgg
     6721 gggccattgg ttttcatgaa gtgtgactat gaaacatgaa aatcacacaa ggcaatcttg
     6781 atctgaggaa tgcttctaag agaaaatgaa tacacctgcc ctataggccc gcttctctac
     6841 caagcacacg gagatgtcca cttattcttg ctggcaccaa atggtgatat tcaaaagagc
     6901 tggcataatt ttttagagtt gctaagtata taaagcacta actttatcaa ttttgttaat
     6961 tatacttcac ttcatctctg tcttatcaat tag
//
LOCUS       NM_001004490            4224 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily AG member 2
            (OR2AG2), transcript variant 1, mRNA.
ACCESSION   NM_001004490
VERSION     NM_001004490.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4224)
  AUTHORS   Chakraborty S, Dakle P, Sinha A, Vishweswaraiah S, Nagori A,
            Salimath S, Prakash YS, Lodha R, Kabra SK, Ghosh B, Faruq M, Mahesh
            PA and Agrawal A.
  TITLE     Genetic variations in olfactory receptor gene OR2AG2 in a large
            multigenerational family with asthma
  JOURNAL   Sci Rep 9 (1), 19029 (2019)
   PUBMED   31836740
  REMARK    GeneRIF: Genetic variations in olfactory receptor gene OR2AG2 in a
            large multigenerational family with asthma. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 4224)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 4224)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000641124.1/ ENSP00000493362.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC087280.11 and AC091564.12.
            On Aug 5, 2020 this sequence version replaced NM_001004490.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..4224
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..4224
                     /gene="OR2AG2"
                     /gene_synonym="OR11-76; OR2AG2P"
                     /note="olfactory receptor family 2 subfamily AG member 2"
                     /db_xref="GeneID:338755"
                     /db_xref="HGNC:HGNC:15143"
     misc_feature    722..724
                     /gene="OR2AG2"
                     /gene_synonym="OR11-76; OR2AG2P"
                     /note="upstream in-frame stop codon"
     misc_feature    794..796
                     /gene="OR2AG2"
                     /gene_synonym="OR11-76; OR2AG2P"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MHSDLEQSKARVNTFRKASTDNIFGSRQLKKHI"
     CDS             893..1843
                     /gene="OR2AG2"
                     /gene_synonym="OR11-76; OR2AG2P"
                     /note="olfactory receptor, family 2, subfamily AG, member 2
                     pseudogene; olfactory receptor OR11-76 pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 2AG2"
                     /protein_id="NP_001004490.1"
                     /db_xref="CCDS:CCDS31413.1"
                     /db_xref="GeneID:338755"
                     /db_xref="HGNC:HGNC:15143"
                     /translation="MELRNSTLGSGFILVGILNDSGSPELLYATFTILYMLALTSNGLL
                     LLAITIEARLHMPMYLLLGQLSLMDLLFTSVVTPKALADFLRRENTISFGGCALQMFLA
                     LTMGSAEDLLLAFMAYDRYVAICHPLKYMTLMSPRVCWIMVATSWILASLIAIGHTMYT
                     MHLPFCVSWEIRHLLCEIPPLLKLACADTSRYELIIYVTGVTFLLLPISAIVASYTLVL
                     FTVLRMPSNEGRKKALVTCSSHLIVVGMFYGAATFMYVLPSSFHSPKQDNIISVFYTIV
                     TPALNPLIYSLRNKEVMRALRRVLGKYILLAHSTL"
     misc_feature    905..907
                     /gene="OR2AG2"
                     /gene_synonym="OR11-76; OR2AG2P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NM03.1); glycosylation site"
     misc_feature    947..949
                     /gene="OR2AG2"
                     /gene_synonym="OR11-76; OR2AG2P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NM03.1); glycosylation site"
     misc_feature    983..1045
                     /gene="OR2AG2"
                     /gene_synonym="OR11-76; OR2AG2P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM03.1);
                     transmembrane region"
     misc_feature    1061..1123
                     /gene="OR2AG2"
                     /gene_synonym="OR11-76; OR2AG2P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM03.1);
                     transmembrane region"
     misc_feature    1184..1246
                     /gene="OR2AG2"
                     /gene_synonym="OR11-76; OR2AG2P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM03.1);
                     transmembrane region"
     misc_feature    1310..1372
                     /gene="OR2AG2"
                     /gene_synonym="OR11-76; OR2AG2P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM03.1);
                     transmembrane region"
     misc_feature    1508..1570
                     /gene="OR2AG2"
                     /gene_synonym="OR11-76; OR2AG2P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM03.1);
                     transmembrane region"
     misc_feature    1625..1687
                     /gene="OR2AG2"
                     /gene_synonym="OR11-76; OR2AG2P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM03.1);
                     transmembrane region"
     misc_feature    1706..1768
                     /gene="OR2AG2"
                     /gene_synonym="OR11-76; OR2AG2P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM03.1);
                     transmembrane region"
     regulatory      4079..4084
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR2AG2"
                     /gene_synonym="OR11-76; OR2AG2P"
                     /note="hexamer: AATAAA"
     polyA_site      4097
                     /gene="OR2AG2"
                     /gene_synonym="OR11-76; OR2AG2P"
                     /note="major polyA site"
ORIGIN
        1 atgaaacaca gcatgagggg aatatatgaa atctgaggac ctggacttaa gaactcagct
       61 agaaccattc caaagcagta aggactttct cgcaaggaca gtgaatgaga gaactttgga
      121 agagattcag ctcctcactt ctgcaggatc ctgccctagg ttctcagctg cctgtctgca
      181 tctatctcta cttccagaga ggacttgcag tgccagtgac tggaggagcc tttgatctct
      241 gatcctagag acagccatac acacacctac attcatcctg gccagaagaa gcaacttttc
      301 tttctttggc ttcttgaacc tctttacctg gaagctatgc cccttcccat atgagcagag
      361 cagcacttga agagtccagg tgatcaagca gcccaagaac ccagagattc tcctactgag
      421 gaaagtaatc aacaacaatg agactggttt aagggagaag acagcaaaga ggttttttat
      481 aaataaaatt ttaaaaactg aattggaatt ccaactacat tttaagcaga aaaatagcta
      541 gatcttaaac caatccccag tatatttgtt cattgtgaag aaagagatgc tttcatctat
      601 ctacaaagat gtttgcttgg gcttattctt caggatacct tatttgaagg gatttctaaa
      661 tgattactat taacaacatg tcaaaatacc tgataccagt ttagctgatg gtttatttca
      721 ataaaagcat tcagaaatca gaggcatact aagaaatgga aaatatatca tattatggga
      781 ttcctattgg ccaatgcaca gtgacctaga acaatccaaa gctagagtga acacctttag
      841 aaaagcttcc actgataata tatttggttc taggcaacta aaaaaacaca tcatggagct
      901 ccggaactcc accttgggaa gcggcttcat cttggtgggg attctgaatg acagtgggtc
      961 tcctgaactg ctctatgcta catttacaat cctatacatg ttggcactga ccagcaatgg
     1021 tctgctgctc ctggccatca ccatagaagc ccggctccac atgcccatgt acctcctgct
     1081 tgggcagctc tctctcatgg acctcctgtt cacatctgtt gtcactccca aggcccttgc
     1141 ggactttctg cgcagagaaa acactatctc ctttggaggc tgtgcacttc agatgttcct
     1201 ggcactgaca atgggtagcg ctgaggacct cctactggcc ttcatggcct atgacaggta
     1261 tgtggccatt tgtcatcctc tgaaatacat gaccctcatg agcccaagag tctgctggat
     1321 catggtggcc acatcctgga tcctggcatc cctgattgct ataggacata ccatgtacac
     1381 tatgcacctc cctttctgtg tgtcctggga aatcaggcat ctgctctgtg agatcccacc
     1441 cttgctgaag ttggcctgtg ctgatacctc caggtatgag cttataatat acgtgacagg
     1501 tgtgactttc ctcttgctcc ccatttctgc cattgtggcc tcctacacac tagtcctatt
     1561 cactgtgctt cgtatgccat caaatgaggg gaggaagaaa gcccttgtca cctgctcttc
     1621 ccacctgatt gtggtcggga tgttctatgg agctgccaca ttcatgtatg tcttgcccag
     1681 ttccttccac agccccaaac aagacaacat catctctgtt ttctacacaa ttgtcactcc
     1741 agccctgaat ccactcatct acagcctgag gaataaggag gtcatgcggg ccttgaggag
     1801 ggtcctggga aaatacatac tgctggcaca ttccacgctc tagggaagga tcatggcttg
     1861 cctctcacca ttcctcctcc agataaaatt ctctactcac tcattcctgc tccaaataaa
     1921 attctctact cactcattct tcaatactgt actctgagat gatagataca ttttttaaat
     1981 tttactttta ttttcaactg tgaatctggt gtgtacaatg atcttgagtt aaactcattt
     2041 ggcacacatc atcctgactt tggaaaccca tgttataaaa ataaccagat gggggaaaag
     2101 ccttgaatgg gtgttgtaga ctcactctgt ggtaggcatc gtcctgacac attaccaagt
     2161 agacatggta ggggattagc tttccatttt aacatcacat agcagtgaga agcagcagta
     2221 gttttggact gaccaaattc caatagcctc tcagcatcag aggaggacta ctccctttga
     2281 agcagattct taaactacta atagagggaa gaattttcag aagatatatt agacttcctg
     2341 tttattaagt agatgattat ttgagcagtt agtggaaatg aataagagtt atgtgactgc
     2401 atttgtactc tagacctaag ggaccttcac attggttact tgagtaatga taaataatta
     2461 cattgaaaga gtgtggccag gcgcagtagc tcacgcctgt aatccaagca ctttgggagg
     2521 ctgaggtggg cagatcacct gaggtaagga gttcaagacc agcctggcca acgtgtggaa
     2581 cccgggtctc tactaaaaat acaaaaatga gcggggcata gttgtgggtg cctgtaatcc
     2641 cagctactcg ggaggctgag gcaggagaat tgcttgaccc tgggaggcgg aggtcgcagt
     2701 gagctgagat cgcgccactg cactccagcc tgagcaacag agagagactc cgtttcaata
     2761 aataaataaa taaatagaaa gaaagaatgg aaaaggataa agaaagatat ttctacttgg
     2821 aaattttgac agtctttttg aaaatgggca tttttacatt gcctaaaatt aaaactaaaa
     2881 taaagaatga ataaaataga attgaaagta ccagttttaa agtgagtaca ataacaatga
     2941 gagaaatttg ttgggaatat tgtctaagtt ttttaaaatg tggacttgca gatatgtgaa
     3001 tgtgttttta aacattaaaa caattgaaag aggttatatt cttgaggtga gtgtatgtac
     3061 atgtgtgttt ccatagaaaa ggaagtataa aatttataat ttgctttcta gctagcctaa
     3121 ataagcctta ttttttttat tctactcatc agtgtgggaa gatttatagc aaaatttggg
     3181 aacttaaatt tgttgaatgc agaattccca aaatatcttg gcttacatag gtgttattat
     3241 tcttgagaat agtgctttgt caaaacacaa taattcttgt tttctttata gaaataatat
     3301 tacattattt aatctataaa gctaaaccat aaaaaataaa agataaagct aatctataaa
     3361 attaatccaa ctttgttata aaaactgaga aaattaaaaa aattagaata aatcaaaaat
     3421 cacttataaa tttttctttt ttgttgcaca tatatgcatt ttactgaatt taaatgtcca
     3481 tgatgatgaa ggtcctgtgt tttttccatt tgaaatttgg tgaatcttct tccttgctat
     3541 gagggaatat tttagagtag tgatgagaaa gcagaccaga gtgcccgcat ttgaatccct
     3601 ctcttccttt ggtcatctat gcatctttga acgctaaatt aaactctttg taccttagtc
     3661 tgctgatgtt aaaagtggtg atatttactg gcctgctctt gtgatattgt tgggtagatt
     3721 aaataagata attaatatca ggtactgaga ccacagctta gtaaactgtg cttaaaacat
     3781 tttggctgct atatggataa atagtaaaaa gcctttttaa aaaatcttat tttattattt
     3841 ccttttagaa atgaaacatt tgtttattat ttttattgac aaaatatgta tgtcttaatg
     3901 tagtaaaaca tgatgttttg aaatatgtat actttatgga attgctaaat caagccaact
     3961 aacatatgct ttactccaca tacttatctt ttttgcatta ggaaaagtta aaatctactt
     4021 tctcagcaat tttcaagcac acaatataat ctgattaact ataattgcca tgatctacaa
     4081 taaatctctt gaacttattc ctcctgtcta actgaagttt tgtgtccttt caccagcatc
     4141 tcccaaatcc ccctacctca acatttggta accaccattt tactctctgt ttctgtaaat
     4201 tcagcttaca ggttctgcat ataa
//
LOCUS       NM_001004491            1154 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily AK member 2
            (OR2AK2), mRNA.
ACCESSION   NM_001004491
VERSION     NM_001004491.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1154)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless         :: BC136816.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000366480.5/ ENSP00000355436.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC099570.2.
            On Jun 16, 2021 this sequence version replaced NM_001004491.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1154
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..1154
                     /gene="OR2AK2"
                     /gene_synonym="OR1-47; OR2AK1P"
                     /note="olfactory receptor family 2 subfamily AK member 2"
                     /db_xref="GeneID:391191"
                     /db_xref="HGNC:HGNC:19569"
     misc_feature    37..39
                     /gene="OR2AK2"
                     /gene_synonym="OR1-47; OR2AK1P"
                     /note="upstream in-frame stop codon"
     misc_feature    100..102
                     /gene="OR2AK2"
                     /gene_synonym="OR1-47; OR2AK1P"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MNISDVISFDILVSA"
     CDS             145..1107
                     /gene="OR2AK2"
                     /gene_synonym="OR1-47; OR2AK1P"
                     /note="olfactory receptor, family 2, subfamily AK, member 1
                     pseudogene; olfactory receptor OR1-47; olfactory receptor
                     2AK1"
                     /codon_start=1
                     /product="olfactory receptor 2AK2"
                     /protein_id="NP_001004491.2"
                     /db_xref="CCDS:CCDS31102.2"
                     /db_xref="GeneID:391191"
                     /db_xref="HGNC:HGNC:19569"
                     /translation="MKTGNQSFGTDFLLVGLFQYGWINSLLFVVIATLFTVALTGNIML
                     IHLIRLNTRLHTPMYFLLSQLSIVDLMYISTTVPKMAVSFLSQSKTIRFLGCEIQTYVF
                     LALGGTEALLLGFMSYDRYVAICHPLHYPMLMSKKICCLMVACAWASGSINAFIHTLYV
                     FQLPFCRSRLINHFFCEVPALLSLVCQDTSQYEYTVLLSGLIILLLPFLAILASYARVL
                     IVVFQMSSGKGQAKAVSTCSSHLIVASLFYATTLFTYTRPHSLRSPSRDKAVAVFYTIV
                     TPLLNPFIYSLRNKEVTGAVRRLLGYWICCRKYDFRSLY"
ORIGIN
        1 tgctctaaac atgtagatag ttgccaaaca tgtaagtgaa tatttatttc tgaatgccat
       61 gtcattttac tttctcttaa gggaagtcaa cattattaca tgaacatttc agatgtcatc
      121 tcctttgata ttttggtttc agccatgaaa acaggaaatc aaagttttgg gacagatttt
      181 ctacttgttg gtcttttcca atatggctgg ataaactctc ttctctttgt cgtcattgcc
      241 accctcttta cagttgctct gacaggaaat atcatgctga tccacctcat tcgactgaac
      301 accagactcc acactccaat gtactttctg ctcagtcagc tctccatcgt tgacctcatg
      361 tacatctcca ccacagtgcc caagatggca gtcagcttcc tctcacagag taagaccatt
      421 agatttttgg gctgtgagat tcaaacgtat gtgttcttgg cccttggtgg aactgaagcc
      481 cttctccttg gttttatgtc ttatgatcgc tatgtagcta tctgtcaccc tttacattat
      541 cctatgctta tgagcaagaa gatctgctgc ctcatggttg catgtgcatg ggccagtggt
      601 tctatcaatg ctttcataca tacattgtat gtgtttcagc ttccattctg taggtctcgg
      661 ctcattaacc actttttctg tgaagttcca gctctactat cattggtgtg tcaggacacc
      721 tcccagtatg agtatacagt cctcctgagt ggacttatta tcttgctact accattccta
      781 gccattctgg cttcctatgc tcgtgtgctt attgtggtat tccagatgag ctcaggaaaa
      841 ggacaggcaa aagctgtttc cacttgttcc tcccacctga ttgtggcaag cctgttctat
      901 gcaaccactc tctttaccta cacaaggcca cactccttgc gttccccttc acgggataag
      961 gcggtggcag tattttacac cattgtcaca cctctactga acccatttat ctacagcctg
     1021 agaaataagg aagtgacggg ggcagtgagg agactgttgg gatattggat atgctgtaga
     1081 aaatatgact tcagatctct gtattgattg agcattaaca acataaaaag ctgttcctga
     1141 aaactatctg gaaa
//
LOCUS       NM_001004492            6349 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily B member 11
            (OR2B11), transcript variant 1, mRNA.
ACCESSION   NM_001004492
VERSION     NM_001004492.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6349)
  AUTHORS   Guan W, Steffen BT, Lemaitre RN, Wu JHY, Tanaka T, Manichaikul A,
            Foy M, Rich SS, Wang L, Nettleton JA, Tang W, Gu X, Bandinelli S,
            King IB, McKnight B, Psaty BM, Siscovick D, Djousse L, Chen YI,
            Ferrucci L, Fornage M, Mozafarrian D, Tsai MY and Steffen LM.
  TITLE     Genome-wide association study of plasma N6 polyunsaturated fatty
            acids within the cohorts for heart and aging research in genomic
            epidemiology consortium
  JOURNAL   Circ Cardiovasc Genet 7 (3), 321-331 (2014)
   PUBMED   24823311
REFERENCE   2  (bases 1 to 6349)
  AUTHORS   Villani AC, Lemire M, Fortin G, Louis E, Silverberg MS, Collette C,
            Baba N, Libioulle C, Belaiche J, Bitton A, Gaudet D, Cohen A,
            Langelier D, Fortin PR, Wither JE, Sarfati M, Rutgeerts P, Rioux JD,
            Vermeire S, Hudson TJ and Franchimont D.
  TITLE     Common variants in the NLRP3 region contribute to Crohn's disease
            susceptibility
  JOURNAL   Nat Genet 41 (1), 71-76 (2009)
   PUBMED   19098911
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641149.2/ ENSP00000492892.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL606804.11.
            On Jan 8, 2021 this sequence version replaced NM_001004492.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
FEATURES             Location/Qualifiers
     source          1..6349
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..6349
                     /gene="OR2B11"
                     /note="olfactory receptor family 2 subfamily B member 11"
                     /db_xref="GeneID:127623"
                     /db_xref="HGNC:HGNC:31249"
     misc_feature    3474..3476
                     /gene="OR2B11"
                     /note="upstream in-frame stop codon"
     CDS             3549..4502
                     /gene="OR2B11"
                     /note="novel 7 transmembrane receptor (rhodopsin family)
                     protein"
                     /codon_start=1
                     /product="olfactory receptor 2B11"
                     /protein_id="NP_001004492.1"
                     /db_xref="CCDS:CCDS31090.1"
                     /db_xref="GeneID:127623"
                     /db_xref="HGNC:HGNC:31249"
                     /translation="MKSDNHSFLGDSPKAFILLGVSDRPWLELPLFVVLLLSYVLAMLG
                     NVAIILASRVDPQLHSPMYIFLSHLSFLDLCYTTTTVPQMLVNMGSSQKTISYGGCTVQ
                     YAVFHWLGCTECIVLAAMALDRYVAICKPLHYAVLMHRALCQQLVALAWLSGFGNSFVQ
                     VVLTVQLPFCGRQVLNNFFCEVPAVIKLSCADTAVNDTILAVLVAFFVLVPLALILLSY
                     GFIARAVLRIQSSKGRHKAFGTCSSHLMIVSLFYLPAIYMYLQPPSSYSQEQGKFISLF
                     YSIITPTLNPFTYTLRNKDMKGALRRLLARIWRLCG"
     misc_feature    3561..3563
                     /gene="OR2B11"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5JQS5.1); glycosylation site"
     misc_feature    3636..3707
                     /gene="OR2B11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQS5.1);
                     transmembrane region"
     misc_feature    3732..3797
                     /gene="OR2B11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQS5.1);
                     transmembrane region"
     misc_feature    3861..3920
                     /gene="OR2B11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQS5.1);
                     transmembrane region"
     misc_feature    3978..4034
                     /gene="OR2B11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQS5.1);
                     transmembrane region"
     misc_feature    4143..4145
                     /gene="OR2B11"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5JQS5.1); glycosylation site"
     misc_feature    4146..4217
                     /gene="OR2B11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQS5.1);
                     transmembrane region"
     misc_feature    4269..4337
                     /gene="OR2B11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQS5.1);
                     transmembrane region"
     misc_feature    4377..4436
                     /gene="OR2B11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQS5.1);
                     transmembrane region"
ORIGIN
        1 gagaatgagg tcaagttaaa tctgagggat aattttgaaa tgaacagaga gcgtgacacg
       61 ggcaaggtgt gttgcctgaa agccttatcc tcggaagtaa cctccaccat gtcaaggtac
      121 ctataggcac tctgggggac taaggttaag gcagttccac cgacctcacg tactgccaag
      181 ggagagtccg ggaaaccctg agtctcccca gcaagcctgt tgcaacggac agcagactcc
      241 ttctagactg agaataatct ctcagacttg ctcagagggt tgggttccag taaatggtaa
      301 ggtcccagca gcccatcaga ggaaatgtgc tgtgtgttcc tggaatatga agagcatttc
      361 tagtaagtcc atccttaaat gtccctccgc gactaaggcc aacacagact gcaatatagc
      421 cttcagtcct aaagcaagtc ttctgtagga gccaggaacc ctggagggaa tgatatatat
      481 ctaagggtgt atcacagcct gcgtgttcac agcctagcct gccagcagcc cccagaagaa
      541 actgcgggaa ttcagcgtga acatgataca atcagcaggt aactcttgag cgacgggttc
      601 ttacgttttt ggtaattgaa acacctaaag atatctttgc cttaaggcct gagtctcaga
      661 aagatgactt cgtgtgaggg tgagtgaggg gttgaaactg cctgcagaga ggcaggtagc
      721 aagttccaag aggggtcctg gtgggcgttt ctgcccagga cggcagtggt gaggatacag
      781 acagtgcgtg cctgcaacga tgcaacattg tggtgggatc acagcattgt gtgggtgttg
      841 aattctttaa cttcggtgct gaactagagt gaatgaggag tagaacatga atagaaagaa
      901 cctcagtact tggcatcacg gtgactgaag ggaactcagc cagaattaag atgaaggaga
      961 tggtttgagt ctggggggat ggctgccagg tgaaatttgg gatgcctcag ttcacaatgt
     1021 caaaaagggg gttagaggtc agtgaggaac tgacaactgt agatacagcc tgagggattc
     1081 cgtctgaatg cgatggcgat gtttgtggga actactgtgt ccatccaggg aagcaaggct
     1141 gtgccttgag ggggcacctg tacttgggta gtgggaagat gaaagaaggt caaggagtgc
     1201 agaggctaga cacctacgaa agctccgtgt ggaaacacct gaacagaagg gcatcagatc
     1261 cagggcatga ggggcagggc tgggcagtgt ccagctttgc cattgagaaa ccgtgtgtgt
     1321 gtgcgtgtgt gtgtgtgtgt gtgtgtgtgc gtgtgcacgt gcatgcatgt gtgtgcacgt
     1381 gtgtacgtaa gtgtgcacat gtacagtgga ctataattac aagaaaacca ctcctctcta
     1441 atccctgccc ctttctatcc tgtgaccttc ctctccctca tctccccttc ccaggaactt
     1501 cttttgtctc agtcgtttac gcgactgccc ttgctgctcc ccatgtcacc agctgctctt
     1561 tttttaaagc aaagttctgg agagaatagt agtgaagagc aggagtttgg ctttcagtcc
     1621 tggctttacc atttgctgcc gtgtaactaa ggtagaccag ctgtcctccc gagtcgctca
     1681 gtcaattagg ggtgaaaaca tggaccttgc tgagatatta aggcaacatc aagttattat
     1741 tacagtacct ggctcacagt gagtggtaaa taacttgtct ttattataaa ttgccgcata
     1801 catttacccc tctatctttc ttgcttcctt cattctctca tttctttctt cactatccct
     1861 acaacttctc ccttttctcc cagtttaggc tctgaaaaga aactctggaa tcagaaatct
     1921 cagaaagaga aatgtcataa ttcctttact tcttaataat tagacttaaa aatgtgctag
     1981 cttgactttg ctcggccaca gctcactgtt ttgacaggca tcttgagctc gttagagata
     2041 agatcacatt ctgtgaagtt tatttcataa gtattgttga tagaatctgg gaggagatac
     2101 gataattgaa tgtttcacaa gaatattggc aactttctga caaaacgtgt gtggttttga
     2161 aactagagaa gcaggaggga aaaactgaac ttattcctcc attgaaaccc tggagtttga
     2221 gttgttttcc agtaacagta gagttcttca gaacatcaac tggggcagca gggaacacct
     2281 gttgcaacat gtaagctgag cagatctccg ttagttttac agtctatgca taaggtacca
     2341 aatcaagaat aaaaatcctt cataaattat ctgcttacag gatttattat gaataatgat
     2401 taattaatta ttgtttatta ataatatttt tcaatcctat catggagcat aacatcccca
     2461 tcaggaactg gaaggtgtgc aatgcttgag cgattgtagg aggtgagaag ccaatggtgc
     2521 agtcgaaagg acccacgaat cagcaggtgg caacccagtt gcttcctaac agcaatggtt
     2581 tcagaaatca aattggctgt tttctatcac tgagaggtga cagctgctcg gcaaagaaat
     2641 tgtgcaggaa attggaatgt cactcaagcc atcagataaa acctagccct agagggcagt
     2701 ctgatctttc cgtagacaat tccaggggct acctttctca cgccaatcaa gagctttctc
     2761 cctgtgctca aaattccatg gtctggggtc tcattaacta ccatgaccta ttcaggggct
     2821 gaagtaacgt ataccttggc tcttccactc cagagactca caggacctag aattgtgctg
     2881 cttttactgc cagtgtgagt gacagggctg cctgtgcgtg tgtggtcatg acagcggaga
     2941 tcagcatgaa tccgggagct ggatgcaagc gtgagccagt gacggggggt ggtcctatca
     3001 atacagcccc cagctgctca caaagccctt ctgcttgctt tatgtcaccg cctgcctccc
     3061 tcctaccact acctcccaaa atgggaaagc ctaagaaggt ggacaattcc ttgtcgatgt
     3121 ggatgtagag agaaatcaaa cactctgacg gtgatgggag ctgcagcacg cttcgctcta
     3181 cctggaacat aattgtcatt cgtgaggtat tcttctcaca tacttaatgt ctctatcgtc
     3241 cccaagtctt ggcaattgaa ggaggtattt ctccccattt tacagatgca gaagttcagg
     3301 aatattaaat ggtttagttg cggccactga gtaggaagga gagcaaagac acagaggctg
     3361 ctactggggc tcctggttct gacccttccg catcccagcg tctccacaga ggtaaggaga
     3421 atcaaacagg ctatcacctg ggaaaggaag agtggatgca agagggagga aagtgatcaa
     3481 ttcctcttct caggtattat tcattccaat tttctcaatt tgccacaagt gccagaaaat
     3541 gccgcaacat gaaaagtgac aaccatagct tcttagggga ctcccctaaa gccttcatcc
     3601 ttctgggtgt gtctgacagg ccgtggctgg aactccctct ctttgtggtc ctcctgctgt
     3661 cctatgtgct ggccatgttg gggaacgtcg ccatcatcct ggcatcccgg gtggatcctc
     3721 aactccacag ccccatgtac atcttcctca gtcacctgtc cttcctggac ctctgctaca
     3781 ccaccacgac agtccctcag atgctggtca acatgggcag ttcccagaag accatcagct
     3841 atggaggctg cactgtgcaa tatgcagtct tccactggct gggatgcacg gagtgcatcg
     3901 tcctggccgc catggccctg gaccgctacg tggccatctg caagcccctg cactatgccg
     3961 ttctcatgca ccgtgctctc tgtcagcagc tcgtggctct ggcctggctc agtggcttcg
     4021 gcaactcctt cgtgcaggtg gtcctgacgg tgcaattgcc attctgcggg cggcaggtgc
     4081 tgaacaactt tttctgtgag gtgccggccg tgatcaagct gtcgtgtgct gacaccgctg
     4141 tgaatgacac catactggct gtgctggtgg ccttcttcgt gttggtgccc ctggctctca
     4201 tccttctctc ctatggcttt attgcccggg cagtgctcag gatccagtcc tccaagggac
     4261 gacacaaggc ctttgggacg tgttcctccc acctgatgat cgtctccctc ttctacctac
     4321 ctgcgattta catgtatctg cagccccctt ccagctactc ccaagagcag ggcaaattta
     4381 tttctctctt ctattccata atcaccccca ctctcaatcc cttcacctac accctgagaa
     4441 ataaagatat gaagggggct ctgaggagac ttctggccag gatctggagg ctctgtggat
     4501 gatgaggaca tgagatgtag catctccatc aattaaagaa cacagcacaa gtctattgtg
     4561 cactcagagc atctttcact taaggagtta atacccagag agctcaaaaa ccctgtcttc
     4621 aaacatctca cttcctgtta taatgcccca aatcccatag cgacaaagtt cattttaaac
     4681 gtataattct aagaggccat atatttttaa gcattgttta aatagacttc aataagtatg
     4741 tgtggaatta tttcacttcc aatttcctga ttcttttctc ttttcctctt cctatatttc
     4801 ttttattctc tccccatttg tctcttttct attactccta agtatacaca agatgaagct
     4861 gaaatacaat cttattttac ttacaatgaa taagtgtttt tctccatata cttaaatctc
     4921 cacaaatttt acacgacttt ttcagacaat tccaggaatg aagtagattg ctatcttctt
     4981 cctgtgattt tgattttttt ttctctgtag ttcacatttt cttctataga aagtttttcc
     5041 atgaaatgta aactagtaca aacactagta caaccacgat ggaaaacatt gtggatcctt
     5101 aaagaacaaa aagtagatct accatttgat ccagcaatcc cactacgggg catctaccca
     5161 gaggaaaata agtcattata cgaaaaagat acttgctcat gcgtgtttat agcagcacaa
     5221 tttgcaattg gaaaaatatg gaaccatctg ggcgcagtgg ctcatgcctg taatcccagc
     5281 actttgggag gccgaggcgg gtgaatcaca aggtcaggag ttcaagacca gcctggccaa
     5341 gatggtgaaa ccccatctct actaaaaata caaaaattag ctgggcatgg tggcacacgc
     5401 ctgtaatccc agctactcag gaggctgagg cagagaattg cttgaacccg ggaggcggag
     5461 gttgcagtga gccgagatcg cgcctctgca ctccagactg ggcgacagag caagactcca
     5521 tctcaaaaaa aaaagaaaaa gaaaatgtga gatatatacc atggaaaaat actattcagc
     5581 cataaaaagg aatgaaataa tggcattctc agcaacctgg ccagttttaa tgtcctaatg
     5641 cccaaaggtt ctctttctct ctttcaagct cagctatgtg tttctgatta cattatttat
     5701 ataggttatc aaagtgtttg tagcaggaag gcagtcggta atagttcacc aagatgcaga
     5761 aacccagtct ccagttggtg ctgctcagaa gtgctaacaa gacagagttt gcaacagaat
     5821 gtaaatctca tactgtttcc cttataaaaa tagtcttcag ggtttttttt aaatgtcagc
     5881 tcatctaaaa ggtatgttta ataatgtgat tgttttacat tcttatacaa gctccttata
     5941 tcgacagttc atagactaca ctttgagtag caaagtgtgg ctactttgat ggctaattgt
     6001 acagaggaaa tagtatttcc atcctgagca attccatgcg gtttaagagt tgtccatgtg
     6061 tagagaagca attagtaaat atttccttat aacttaatgc tctgtgaagt ataatagatg
     6121 aactgttcct cggatgggat aaatccaaaa taagctgtta tcaactgaaa gcaagatgca
     6181 tcttctacat aatacttcta gttaggagcg caggctctga tactctcaaa cctttccctc
     6241 cacgattttc aatctcctat cctatcaaag atgaaattcc actcattaca gttagagtga
     6301 ggtaacgttt taaaaattat ctacaatgga atcatttgcc aaagtgact
//
LOCUS       NM_001004684             993 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily D member 3
            (OR2D3), mRNA.
ACCESSION   NM_001004684
VERSION     NM_001004684.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 993)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 993)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC137208.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000317834.5/ ENSP00000320560.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BK004294.1.
            On Sep 19, 2004 this sequence version replaced XM_062285.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..993
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..993
                     /gene="OR2D3"
                     /gene_synonym="OR11-89"
                     /note="olfactory receptor family 2 subfamily D member 3"
                     /db_xref="GeneID:120775"
                     /db_xref="HGNC:HGNC:15146"
     CDS             1..993
                     /gene="OR2D3"
                     /gene_synonym="OR11-89"
                     /note="olfactory receptor OR11-89"
                     /codon_start=1
                     /product="olfactory receptor 2D3"
                     /protein_id="NP_001004684.1"
                     /db_xref="CCDS:CCDS31417.1"
                     /db_xref="GeneID:120775"
                     /db_xref="HGNC:HGNC:15146"
                     /translation="MCSFFLCQTGKQAKISMGEENQTFVSKFIFLGLSQDLQTQILLFI
                     LFLIIYLLTVLGNQLIIILIFLDSRLHTPMYFFLRNLSFADLCFSTSIVPQVLVHFLVK
                     RKTISFYGCMTQIIVFLLVGCTECALLAVMSYDRYVAVCKPLYYSTIMTQRVCLWLSFR
                     SWASGALVSLVDTSFTFHLPYWGQNIINHYFCEPPALLKLASIDTYSTEMAIFSMGVVI
                     LLAPVSLILGSYWNIISTVIQMQSGEGRLKAFSTCGSHLIVVVLFYGSGIFTYMRPNSK
                     TTKELDKMISVFYTAVTPMLNPIIYSLRNKDVKGALRKLVGRKCFSHRQ"
     misc_feature    61..63
                     /gene="OR2D3"
                     /gene_synonym="OR11-89"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGH3.2); glycosylation site"
     misc_feature    124..195
                     /gene="OR2D3"
                     /gene_synonym="OR11-89"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH3.2);
                     transmembrane region"
     misc_feature    220..285
                     /gene="OR2D3"
                     /gene_synonym="OR11-89"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH3.2);
                     transmembrane region"
     misc_feature    349..408
                     /gene="OR2D3"
                     /gene_synonym="OR11-89"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH3.2);
                     transmembrane region"
     misc_feature    466..522
                     /gene="OR2D3"
                     /gene_synonym="OR11-89"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH3.2);
                     transmembrane region"
     misc_feature    634..705
                     /gene="OR2D3"
                     /gene_synonym="OR11-89"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH3.2);
                     transmembrane region"
     misc_feature    757..825
                     /gene="OR2D3"
                     /gene_synonym="OR11-89"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH3.2);
                     transmembrane region"
     misc_feature    865..924
                     /gene="OR2D3"
                     /gene_synonym="OR11-89"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH3.2);
                     transmembrane region"
ORIGIN
        1 atgtgttctt ttttcttgtg ccaaacaggt aaacaggcaa aaatatcaat gggagaagaa
       61 aaccaaacct ttgtgtccaa gtttatcttc ctgggtcttt cacaggactt gcagacccag
      121 atcctgctat ttatcctttt cctcatcatt tatctgctga ccgtgcttgg aaaccagctc
      181 atcatcattc tcatcttcct ggattctcgc cttcacactc ccatgtattt ttttcttaga
      241 aatctctcct ttgcagatct ctgtttctct actagcattg tccctcaagt gttggttcac
      301 ttcttggtaa agaggaaaac catttctttt tatgggtgta tgacacagat aattgtcttt
      361 cttctggttg ggtgtacaga gtgtgcgctg ctggcagtga tgtcctatga ccggtatgtg
      421 gctgtctgca agcccctgta ctactctacc atcatgacac aacgggtgtg tctctggctg
      481 tccttcaggt cctgggccag tggggcacta gtgtctttag tagataccag ctttactttc
      541 catcttccct actggggaca gaatataatc aatcactact tttgtgaacc tcctgccctc
      601 ctgaagctgg cttccataga cacttacagc acagaaatgg ccatcttttc aatgggcgtg
      661 gtaatcctcc tggcccctgt ctccctgatt cttggttctt attggaatat tatctccact
      721 gttatccaga tgcagtctgg ggaagggaga ctcaaggctt tttccacctg tggctcccat
      781 cttattgttg ttgtcctctt ctatgggtca ggaatattca cctacatgcg accaaactcc
      841 aagactacaa aagaactgga taaaatgata tctgtgttct atacagcggt gactccaatg
      901 ttgaacccca taatttatag cttgaggaac aaagatgtca aaggggctct caggaaacta
      961 gttgggagaa agtgcttctc tcataggcag tga
//
LOCUS       NM_001004685             954 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily F member 2
            (OR2F2), mRNA.
ACCESSION   NM_001004685
VERSION     NM_001004685.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 954)
  AUTHORS   Peloso GM, Demissie S, Collins D, Mirel DB, Gabriel SB, Cupples LA,
            Robins SJ, Schaefer EJ and Brousseau ME.
  TITLE     Common genetic variation in multiple metabolic pathways influences
            susceptibility to low HDL-cholesterol and coronary heart disease
  JOURNAL   J Lipid Res 51 (12), 3524-3532 (2010)
   PUBMED   20855565
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 954)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000408955.3/ ENSP00000386222.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004853.1.
            On Sep 19, 2004 this sequence version replaced XM_069623.4.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..954
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q35"
     gene            1..954
                     /gene="OR2F2"
                     /gene_synonym="OR7-1"
                     /note="olfactory receptor family 2 subfamily F member 2"
                     /db_xref="GeneID:135948"
                     /db_xref="HGNC:HGNC:8247"
     CDS             1..954
                     /gene="OR2F2"
                     /gene_synonym="OR7-1"
                     /note="olfactory receptor OR7-6; olfactory receptor 7-1"
                     /codon_start=1
                     /product="olfactory receptor 2F2"
                     /protein_id="NP_001004685.1"
                     /db_xref="CCDS:CCDS43666.1"
                     /db_xref="GeneID:135948"
                     /db_xref="HGNC:HGNC:8247"
                     /translation="MEIDNQTWVREFILLGLSSDWCTQISLFSLFLVTYLMTVLGNCLI
                     VLLIRLDSRLHTPMYFFLTNLSLVDVSYATSVVPQLLAHFLAEHKAIPFQSCAAQLFFS
                     LALGGIEFVLLAVMAYDRHVAVSDRLRYSAIMHGGLCARLAITSWVSGSINSLVQTAIT
                     FQLPMCTNKFIDHISCELLAVVRLACVDTSSNEAAIMVSSIVLLMTPFCLVLLSYIRII
                     STILKIQSREGRKKAFHTCASHLTVVALCYGTTIFTYIQPHSGPSVLQEKLISVFYAIV
                     MPLLNPVIYSLRNKEVKGAWHKLLEKFSGLTSKLGT"
     misc_feature    13..15
                     /gene="OR2F2"
                     /gene_synonym="OR7-1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O95006.1); glycosylation site"
     misc_feature    76..147
                     /gene="OR2F2"
                     /gene_synonym="OR7-1"
                     /note="propagated from UniProtKB/Swiss-Prot (O95006.1);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR2F2"
                     /gene_synonym="OR7-1"
                     /note="propagated from UniProtKB/Swiss-Prot (O95006.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR2F2"
                     /gene_synonym="OR7-1"
                     /note="propagated from UniProtKB/Swiss-Prot (O95006.1);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR2F2"
                     /gene_synonym="OR7-1"
                     /note="propagated from UniProtKB/Swiss-Prot (O95006.1);
                     transmembrane region"
     misc_feature    586..657
                     /gene="OR2F2"
                     /gene_synonym="OR7-1"
                     /note="propagated from UniProtKB/Swiss-Prot (O95006.1);
                     transmembrane region"
     misc_feature    709..777
                     /gene="OR2F2"
                     /gene_synonym="OR7-1"
                     /note="propagated from UniProtKB/Swiss-Prot (O95006.1);
                     transmembrane region"
     misc_feature    817..876
                     /gene="OR2F2"
                     /gene_synonym="OR7-1"
                     /note="propagated from UniProtKB/Swiss-Prot (O95006.1);
                     transmembrane region"
ORIGIN
        1 atggaaatag ataaccagac gtgggtgaga gaatttattc tccttggctt atccagtgac
       61 tggtgcactc agatatccct gttttccctg ttcttggtca catacctcat gacagtgctg
      121 gggaactgtc tcattgtcct tctgatcaga ctggacagcc gactccacac tcccatgtat
      181 ttctttctca ccaacctctc ccttgtcgat gtctcctatg ccacaagcgt agtcccccag
      241 ctgctggcac attttcttgc agaacataaa gccatcccat tccagagctg tgcagcccag
      301 ttatttttct ccctggcctt gggtgggatt gagtttgttc tcctggcagt gatggcctat
      361 gaccgccatg tggctgtgtc tgaccgcctg cgatactcgg ccatcatgca tggagggctg
      421 tgtgctaggt tggccatcac atcctgggtc agtggctcca tcaactctct tgtgcagact
      481 gctatcacct ttcagctgcc catgtgcact aacaagttta ttgatcacat atcctgtgaa
      541 ctcctagctg tggtcaggct ggcttgtgtg gacacctcct ccaatgaggc tgccatcatg
      601 gtgtctagca ttgttcttct gatgacacct ttctgcctgg ttctgttgtc ctacatccgg
      661 atcatctcca ccatcctaaa gatccagtcc agagaaggaa gaaagaaagc cttccacacg
      721 tgtgcctctc acctcacggt ggttgccctg tgctacggca caacgatttt cacttacatc
      781 cagccccact ctggtccctc agtccttcaa gagaagctga tctctgtctt ctatgccatt
      841 gttatgcctc tgctgaaccc tgtgatttat agtctaagga ataaagaggt gaagggggcc
      901 tggcataaac tattagagaa attctctggg ttaacatcca agctgggaac ttga
//
LOCUS       NM_001004687            2792 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily L member 3
            (OR2L3), mRNA.
ACCESSION   NM_001004687
VERSION     NM_001004687.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2792)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359959.4/ ENSP00000353044.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC099570.2.
            On Jul 31, 2020 this sequence version replaced NM_001004687.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..2792
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..2792
                     /gene="OR2L3"
                     /note="olfactory receptor family 2 subfamily L member 3"
                     /db_xref="GeneID:391192"
                     /db_xref="HGNC:HGNC:15009"
     misc_feature    16..18
                     /gene="OR2L3"
                     /note="upstream in-frame stop codon"
     CDS             67..1005
                     /gene="OR2L3"
                     /codon_start=1
                     /product="olfactory receptor 2L3"
                     /protein_id="NP_001004687.1"
                     /db_xref="CCDS:CCDS31104.1"
                     /db_xref="GeneID:391192"
                     /db_xref="HGNC:HGNC:15009"
                     /translation="MENYNQTSTDFILLGFFPPSRIGLFLFILIVFIFLMALIGNLSMI
                     LLIFLDTHLHTPMYFLLSQLSLIDLNYISTIVPKMASDFLSGNKSISFTGCGIQSFFFS
                     ALGGAEALLLASMAYDRYIAICFPLHYPIRMSKRMCVLMITGSWIIGSINACAHTVYVL
                     HIPYCQSRAINHFFCDVPAMVTLACMDTWVYEGTVFLSTTIFLVFPFIAISCSYGRVLL
                     AVYHMKSAEGRKKAYLTCSTHLTVVTFYYAPFVYTYLRPRSLRSPTEDKVLAVFYTTLT
                     PMLNPIIYSLRNKEVMGALTRVSQRICSGKM"
     misc_feature    79..81
                     /gene="OR2L3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NG85.1); glycosylation site"
     misc_feature    139..210
                     /gene="OR2L3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG85.1);
                     transmembrane region"
     misc_feature    235..300
                     /gene="OR2L3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG85.1);
                     transmembrane region"
     misc_feature    328..330
                     /gene="OR2L3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NG85.1); glycosylation site"
     misc_feature    364..423
                     /gene="OR2L3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG85.1);
                     transmembrane region"
     misc_feature    481..537
                     /gene="OR2L3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG85.1);
                     transmembrane region"
     misc_feature    649..720
                     /gene="OR2L3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG85.1);
                     transmembrane region"
     misc_feature    772..840
                     /gene="OR2L3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG85.1);
                     transmembrane region"
     misc_feature    880..939
                     /gene="OR2L3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG85.1);
                     transmembrane region"
ORIGIN
        1 gctaagcaaa ggcagtgagt gtttggaaat gaggaaataa taaaggaaag agcacacgaa
       61 tgccccatgg aaaattacaa tcaaacatca actgatttca tcttattagg attcttccca
      121 ccatcaagaa ttggcctttt cctcttcatc ctcattgttt tcattttcct aatggctcta
      181 attggaaacc tatccatgat tcttctcatc ttcttggaca cccatctcca cacacccatg
      241 tatttcctac ttagtcagct ctccctcatt gacctaaatt acatctccac cattgttcct
      301 aagatggcat ctgattttct gtctggtaac aagtctatct ccttcactgg gtgtgggatt
      361 cagagtttct tcttctcggc attaggaggt gcagaagcac tacttttggc atctatggcc
      421 tatgatcgtt acattgctat ttgctttcct cttcactatc ccatccgcat gagcaaaaga
      481 atgtgtgtgc tgatgataac agggtcttgg atcataggct cgatcaatgc ttgtgctcac
      541 actgtatatg tactccatat tccttattgc caatccaggg ccatcaatca tttcttctgt
      601 gatgtcccag caatggtgac tctggcctgc atggacacct gggtctatga gggcacagtg
      661 tttttgagca ccaccatctt tctcgtgttt cccttcattg ctatttcatg ttcctatggc
      721 cgggttctcc ttgctgtcta ccacatgaaa tctgcagaag ggaggaagaa agcctacctg
      781 acctgcagca cccacctcac tgtagtaact ttctactatg caccttttgt ctacacttat
      841 ctacgtccaa gatccctgcg atctccaaca gaggacaagg ttctggctgt cttctacacc
      901 accctcactc caatgctcaa ccccatcatc tatagcctga ggaacaagga ggtgatgggg
      961 gccctgacac gagtgagtca gagaatctgc tctgggaaaa tgtagaaaca ttttctacct
     1021 aaggtctcag gactcagata cacatccatc cagcagtgta tagtaattaa aatattattt
     1081 caatcctaga gttcaggagc taaaagtaat caaggtaaga gaaaaaaatc actgatttct
     1141 ggacaaaatt gttttacata tatatgtata tataactcca aacaaccttt tttcttcatg
     1201 gcattgtttc cataaatttt gaaagcacct acttttacta atatgttgtc aatgagaatt
     1261 tttgtttttg gtcatgcaga aatagaaatg aaattggtct aactgaagtt ggcactcagc
     1321 ataacaattt ccttatggtc agtttatttt ccagtaattt taaatttact tttttgttta
     1381 tgtctaaaac aaaacaaaaa ataagtctct tgacttggtg tatctagttg aaagctgtaa
     1441 gatgttttgt ctttcttatc ttagacactt aacgtaccaa ttactcattc tttcaattta
     1501 gggaactcat tacacagttt agcagagagc tcatcaggga ttcttaagtc ctgataccac
     1561 tctggatggc ctatgacaag attatgttct ttatagggga atgaatccca ggaaatgatt
     1621 taacattagg tatattttag atcaacaaaa ggactggaac atgccagcag taataaaaat
     1681 gattacattt aggtctttaa cctgttttga gttgatttgg atatagtgta atgactggga
     1741 gtttattttc atttttctgc ttaaaaatat ccagttttgc cagcacctta tattgaagac
     1801 actgtctttt tcccaatgaa cagtcttggg tctgttgtca aaaatcagtt gcacagaaag
     1861 gttttgcttg ttctcactcc tatgcgagag ctagaatttt taaaaactga actagtggaa
     1921 atagagaaga gactgatggt caccagaggg tgggaagggt acaggggagg gacgataaag
     1981 tggggatggc taatagttgc aaaaatataa ttagatagaa tgaataagag tatttgatag
     2041 cacaatagag taactatagt aaacaataat ttattgtaga atttattgta tgtattaaag
     2101 aataactgaa agagtggaat tggaatgttc ccaacacaaa gaaataacca tatttgaggt
     2161 gatggttacc ccgattaacc cgatttgatc attatgcatt gtatgccttt atcaaagcat
     2221 cacatacact ccgcaattat atattactat tatgtatcca tagtaattaa aataaaagaa
     2281 ccagttcact gtagatatat ggatttattt ctgggttctc tgttctgttt cactgttcta
     2341 tgtgtctgtt tttatgccag taccattctg ttttggttat tccatgtttg tagtatagtt
     2401 tgaagtttgg tactcatgcc tccagttttt tctttttatt ctacagtgct ttgactattt
     2461 gggttcttta atagttccat acaaatctta aataatggtt tttactattt atgtgcagaa
     2521 tgtcattggt attttgatag acattgcatt gaatctgtag tttggttatt taaataatat
     2581 taattcttcc aatccatgag cattggattt ctttccattc atttgtattc ctcttcattt
     2641 tctttcacca gtgatttgta caaatacatt ctagtgttct cttccatgac taccgttaac
     2701 ggtaaagtat tacatagtgc aatgctcttt aaatgtcatt tctatttcta agcctgtgga
     2761 tatttgtttt accatattgt agcagttaaa ac
//
LOCUS       NM_001004688            1151 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily M member 2
            (OR2M2), mRNA.
ACCESSION   NM_001004688
VERSION     NM_001004688.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1151)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641836.1/ ENSP00000493201.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL592313.7.
            On Jul 31, 2020 this sequence version replaced NM_001004688.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1151
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..1151
                     /gene="OR2M2"
                     /gene_synonym="OR2M2Q; OST423"
                     /note="olfactory receptor family 2 subfamily M member 2"
                     /db_xref="GeneID:391194"
                     /db_xref="HGNC:HGNC:8268"
     misc_feature    46..48
                     /gene="OR2M2"
                     /gene_synonym="OR2M2Q; OST423"
                     /note="upstream in-frame stop codon"
     CDS             70..1113
                     /gene="OR2M2"
                     /gene_synonym="OR2M2Q; OST423"
                     /codon_start=1
                     /product="olfactory receptor 2M2"
                     /protein_id="NP_001004688.1"
                     /db_xref="CCDS:CCDS31106.1"
                     /db_xref="GeneID:391194"
                     /db_xref="HGNC:HGNC:8268"
                     /translation="MAWENQTFNSDFILLGIFNHSPPHTFLFFLVLGIFLVAFMGNSVM
                     VLLIYLDTQLHTPMYFLLSQLSLMDLMLICTTVPKMAFNYLSGSKSISMAGCVTQIFFY
                     ISLSGSECFLLAVMAYDRYIAICHPLRYTNLMNPKICGLMATFSWILGSTDGIIDAVAT
                     FSFSFCGSREIAHFFCEFPSLLILSCNDTSIFEEVIFICCIVMLVFPVAIIIASYARVI
                     LAVIHMGSGEGRCKAFTTCSSHLMVVGMYYGAALFMYIRPTSDHSPTQDKMVSVFYTIL
                     TPMLNPLIYSLRNKEVTRAFMKILGKGKSESELPHKLYVLLFAKFFFLISIFFYDVKIL
                     ALIMYIA"
     misc_feature    82..84
                     /gene="OR2M2"
                     /gene_synonym="OR2M2Q; OST423"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96R28.2); glycosylation site"
     misc_feature    145..216
                     /gene="OR2M2"
                     /gene_synonym="OR2M2Q; OST423"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R28.2);
                     transmembrane region"
     misc_feature    241..306
                     /gene="OR2M2"
                     /gene_synonym="OR2M2Q; OST423"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R28.2);
                     transmembrane region"
     misc_feature    370..429
                     /gene="OR2M2"
                     /gene_synonym="OR2M2Q; OST423"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R28.2);
                     transmembrane region"
     misc_feature    487..543
                     /gene="OR2M2"
                     /gene_synonym="OR2M2Q; OST423"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R28.2);
                     transmembrane region"
     misc_feature    637..639
                     /gene="OR2M2"
                     /gene_synonym="OR2M2Q; OST423"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96R28.2); glycosylation site"
     misc_feature    655..726
                     /gene="OR2M2"
                     /gene_synonym="OR2M2Q; OST423"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R28.2);
                     transmembrane region"
     misc_feature    778..846
                     /gene="OR2M2"
                     /gene_synonym="OR2M2Q; OST423"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R28.2);
                     transmembrane region"
     misc_feature    886..945
                     /gene="OR2M2"
                     /gene_synonym="OR2M2Q; OST423"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R28.2);
                     transmembrane region"
ORIGIN
        1 ggaacctaaa atcacattga aaatacacac tattcagatc agtactaaga ggtaaaaagc
       61 acattcatca tggcatggga gaatcagacc ttcaactccg acttcatcct ccttggaatc
      121 ttcaatcaca gcccaccaca cacgttcctc ttctttctgg tcctgggcat ctttttagtg
      181 gccttcatgg gaaactctgt catggttctc ctcatctacc tggacaccca gctccacacc
      241 cccatgtact tcctcctcag ccaactgtcc ctcatggacc tcatgctcat ctgcaccacc
      301 gtacccaaga tggccttcaa ctacctgtct ggcagcaagt ccatttctat ggctggttgt
      361 gtcacacaaa ttttcttcta tatatcactg tctggctctg aatgttttct tttggctgtt
      421 atggcttatg accgctatat tgctatttgc caccctctaa gatataccaa tctcatgaat
      481 cctaaaattt gtggacttat ggctaccttc tcctggatcc tgggctctac agatggaatc
      541 attgatgctg tagccacatt ttccttctcc ttttgtgggt ctcgggaaat agcccacttc
      601 ttctgtgaat tcccttccct actaatcctc tcatgcaatg acacatcaat atttgaagag
      661 gttattttca tctgctgtat agtaatgctt gttttccctg ttgcaatcat cattgcttcc
      721 tatgctcgag ttattctggc tgtcattcac atgggatctg gagagggtcg ttgcaaagct
      781 ttcacgacct gttcctctca cctcatggtg gtgggaatgt actatggagc agctttgttc
      841 atgtacatac ggcccacatc tgatcactcc ccaacgcagg acaagatggt gtctgtattc
      901 tacaccatcc tcactcccat gctgaatccc ctcatctaca gcctccgcaa caaggaggtg
      961 actagagcat tcatgaagat cttaggaaag ggcaagtctg agagtgagtt acctcataaa
     1021 ctttatgttt tgctgtttgc taaattcttc tttctaatat ccatcttttt ctatgatgtc
     1081 aaaatactag cattgattat gtacattgcc taacatattt atgggcacct atacaattta
     1141 tttcaggtaa a
//
LOCUS       NM_001004689            9913 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily M member 3
            (OR2M3), mRNA.
ACCESSION   NM_001004689
VERSION     NM_001004689.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9913)
  AUTHORS   Haag F, Ahmed L, Reiss K, Block E, Batista VS and Krautwurst D.
  TITLE     Copper-mediated thiol potentiation and mutagenesis-guided modeling
            suggest a highly conserved copper-binding motif in human OR2M3
  JOURNAL   Cell Mol Life Sci 77 (11), 2157-2179 (2020)
   PUBMED   31435697
  REMARK    GeneRIF: This work shows that the specific thiol function of human
            OR2M3 is modulated by copper ions. The homology modeling/docking
            studies together with receptor functional expression studies suggest
            that this copper sensitivity is mediated by two copper-binding sites
            within narrowly tuned OR2M3.
REFERENCE   2  (bases 1 to 9913)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 9913)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   4  (bases 1 to 9913)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641626.1/ ENSP00000492981.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL450303.10.
            On Aug 3, 2020 this sequence version replaced NM_001004689.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..9913
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..9913
                     /gene="OR2M3"
                     /gene_synonym="OR1-54; OR2M3P; OR2M6; OST003"
                     /note="olfactory receptor family 2 subfamily M member 3"
                     /db_xref="GeneID:127062"
                     /db_xref="HGNC:HGNC:8269"
     CDS             56..994
                     /gene="OR2M3"
                     /gene_synonym="OR1-54; OR2M3P; OR2M6; OST003"
                     /note="olfactory receptor, family 2, subfamily M, member 6;
                     olfactory receptor, family 2, subfamily M, member 3
                     pseudogene; olfactory receptor OR1-54; novel 7
                     transmembrane receptor (rhodopsin family) protein;
                     olfactory receptor 2M6"
                     /codon_start=1
                     /product="olfactory receptor 2M3"
                     /protein_id="NP_001004689.1"
                     /db_xref="CCDS:CCDS31107.1"
                     /db_xref="GeneID:127062"
                     /db_xref="HGNC:HGNC:8269"
                     /translation="MARENSTFNSDFILLGIFNHSPTHTFLFFLVLAIFSVAFMGNSVM
                     VLLIYLDTQLHTPMYLLLSQLSLMDLMLICTTVPKMAFNYLSGSKSISMAGCATQIFFY
                     TSLLGSECFLLAVMAYDRYTAICHPLRYTNLMSPKICGLMTAFSWILGSTDGIIDVVAT
                     FSFSYCGSREIAHFFCDFPSLLILSCSDTSIFEKILFICCIVMIVFPVAIIIASYARVI
                     LAVIHMGSGEGRRKAFTTCSSHLLVVGMYYGAALFMYIRPTSDRSPTQDKMVSVFYTIL
                     TPMLNPLIYSLRNKEVTRAFMKILGKGKSGE"
     misc_feature    68..70
                     /gene="OR2M3"
                     /gene_synonym="OR1-54; OR2M3P; OR2M6; OST003"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NG83.1); glycosylation site"
     misc_feature    131..202
                     /gene="OR2M3"
                     /gene_synonym="OR1-54; OR2M3P; OR2M6; OST003"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG83.1);
                     transmembrane region"
     misc_feature    227..292
                     /gene="OR2M3"
                     /gene_synonym="OR1-54; OR2M3P; OR2M6; OST003"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG83.1);
                     transmembrane region"
     misc_feature    356..415
                     /gene="OR2M3"
                     /gene_synonym="OR1-54; OR2M3P; OR2M6; OST003"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG83.1);
                     transmembrane region"
     misc_feature    473..529
                     /gene="OR2M3"
                     /gene_synonym="OR1-54; OR2M3P; OR2M6; OST003"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG83.1);
                     transmembrane region"
     misc_feature    641..712
                     /gene="OR2M3"
                     /gene_synonym="OR1-54; OR2M3P; OR2M6; OST003"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG83.1);
                     transmembrane region"
     misc_feature    764..832
                     /gene="OR2M3"
                     /gene_synonym="OR1-54; OR2M3P; OR2M6; OST003"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG83.1);
                     transmembrane region"
     misc_feature    872..931
                     /gene="OR2M3"
                     /gene_synonym="OR1-54; OR2M3P; OR2M6; OST003"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG83.1);
                     transmembrane region"
     regulatory      7855..7860
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR2M3"
                     /gene_synonym="OR1-54; OR2M3P; OR2M6; OST003"
                     /note="hexamer: AATAAA"
     polyA_site      7877
                     /gene="OR2M3"
                     /gene_synonym="OR1-54; OR2M3P; OR2M6; OST003"
                     /note="major polyA site"
     regulatory      9678..9683
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR2M3"
                     /gene_synonym="OR1-54; OR2M3P; OR2M6; OST003"
                     /note="hexamer: AATAAA"
     polyA_site      9701
                     /gene="OR2M3"
                     /gene_synonym="OR1-54; OR2M3P; OR2M6; OST003"
                     /note="major polyA site"
ORIGIN
        1 ggaaaccaca atctcactga aaatatacac tattcaggta aaaagcatac acatcatggc
       61 aagggagaat tcgaccttca actccgactt catcctcctg ggaatcttca atcacagccc
      121 cacccacacc ttcctcttct ttctggtcct ggccatcttt tcagtggcct tcatgggaaa
      181 ctctgtcatg gttctcctca tctacctgga cacccagctc cacaccccca tgtacctcct
      241 cctcagccaa ctgtccctca tggacctcat gctcatctgc accaccgtac ccaagatggc
      301 cttcaactac ctgtctggca gcaagtccat ttctatggct ggttgtgcca cacaaatttt
      361 cttctataca tcactgcttg gctctgagtg ctttcttttg gctgttatgg cttatgaccg
      421 ctacactgcc atttgccacc ctctaagata caccaatctc atgagcccta aaatttgtgg
      481 acttatgact gccttttcct ggatcctggg ctctacggat ggaattattg atgttgtagc
      541 aacattttcc ttctcctact gtgggtctcg ggaaatagcc cacttcttct gtgacttccc
      601 ctccctacta atcctctcat gcagtgacac atcaatattt gaaaagattc ttttcatctg
      661 ctgtatagta atgattgttt tccctgttgc aatcatcatt gcttcctatg ctcgagttat
      721 cctggctgtc attcacatgg gatctggaga gggtcgtcgc aaagctttta ctacttgttc
      781 ctctcacctc ttggtggtgg gaatgtacta tggagcagct ttgttcatgt acatacggcc
      841 cacatctgat cgctccccaa cacaggacaa gatggtgtct gtattctaca ccatcctcac
      901 tcccatgttg aatcccctca tctacagcct ccgcaacaag gaggtgacca gagcattcat
      961 gaagatctta ggaaagggca agtctggaga gtgagttacc taataaactt catgttttgc
     1021 tgtgtgctaa atcctttttt taaatggtcc tatttttcca ttaagccttg aaaatgggat
     1081 tcattgtgta cataaatctg caatgacata tttatgtgca cctatataat ttatttcaga
     1141 taaactatta taactattta ttattttata ttcatttctg ctatgaccac aatgtaagtc
     1201 atttccaata agaatattaa agttttaaaa attattttta atttccatag gtttttggag
     1261 aacaggtagt gtttggtttt atgaataagt tctttagtga tgatttctga gattttggtg
     1321 cacccatcac ccaagcagta ttcactgtac ccaatgtgta gtcttttatc acttgtcatt
     1381 ccccgtattt ccctcatgtc cccaaagtcc agtgtatcat tcttatgact ttttgtctca
     1441 tagtttagtt tcaacatatg aatgtgaacg tatgatgttt ggtttttcat tcctgagtta
     1501 ctttacttag aataatagtc tctaattcca tcccagttgc tgtgaatgcc attattttgt
     1561 attttttatg actgagtagt attccatggt atgtgtgtat atagatatat atatatatac
     1621 gtatatatat acacacacac atatatatat ataacctttt ctttatccac tcgttgattg
     1681 atgggcattt ggactggttc catatttttg caattgcaaa ttgtgctgct ttatacatgc
     1741 atgtgcaggt atcttttttg tataataact tcttttcctc tgtgtagtta gtagtggtat
     1801 tgctagatca aaaggtagat ccacttttag ttctttaagg aatgttcaca ctgtttttta
     1861 cagtggttga actagtttgc attcccacca gcagtgtaaa agttcccttt tgaccgcatc
     1921 cacaccagca tctattattg tttgattgat tatggccatt cttgcagaag tgaggtggta
     1981 ttgcattgtg gttttgattt gcatttccct gataattagt gatgtcaagc atttttctag
     2041 atgcttgttg gctatttata tatatttata tatctccttt tgagaattgt ctattcatgt
     2101 cctaggccca ctttttgatg ggatcatttg ttttcttctt gctgatttgt ttgagttctt
     2161 tgtagattct ggaaattaat cccttctcag atgtataaat tgtgaagatt ttctcccact
     2221 ctatgggttg tctatttact ctgctgaccg ttccttttgc agtgcaaaag gtctttagtt
     2281 taattagttc ccagctattt atctttgttt ttattgcatt agtttttggg ttcttgctca
     2341 tgaaaccctt gcctaagcca atgtctacaa ggatttctct gatgttatct tctggaatct
     2401 ttatgttttc agtacttaga tttaaggttt ttatccatct tgagttgatt tttgtataag
     2461 gtgagcgatg aggatccagt ttcattcttc tacatgtggc ctgtcagtta gcccagcacc
     2521 atttgttgaa tatggtgttc tttcccccac ttcatgtttt tgtttgtgtt gttgaagatc
     2581 agatggctgt aagtattttg gtttatttct gggttctcta ttctgttttg tctgtctatg
     2641 tctctatttt tatccagtac catgctgttt tggtgactat ggctttatag tataatttga
     2701 agttgggtat gtggtgcctc cagatttgtt ctttttgctt attcttgcta tggctatgca
     2761 ggactttttt attccatatg aattttagga ttgttctttc tagttctgtt aagaaggatg
     2821 gtgatatttt agtgggaatt gcattgaatt tgtaaattgc ttttggcagc atggtcattt
     2881 ttacaatatt gtttctaccc atccatgagt atgggatgta tttccattta tttgtgttgt
     2941 caatgatttt tttcagcagt gttttgtatt tttccttgta gaagtctttc acatccttgg
     3001 ttaggtatac tccttaatat tttgtgttgt tgttgttata ttatttgctt ctgtcatgaa
     3061 agggttgagt tcttgatttg attctcagct ggttgccatt agtatatagc agagctactg
     3121 atttgtgtac attaattgtg tgtcctgaaa ctgttgaatt tatttaccag ttctaggagc
     3181 tttttagatg agccgttagg gttttctatg tattccatcg tatcatcagc aaacagcgac
     3241 agttttcctt tctctttacc attttggatg tcctttattt ctttctcttg tctgattgct
     3301 ctagctagga ctttcagtat tatcttgaac agacatggtg aaagtggaca tccttgtctt
     3361 gttccagttc tcagggggaa tgctttccaa ttttcccctt tcagtataat gtttgctgtg
     3421 gatttctcat agaaggcttt gattacctta acgtcacctc tatgtccctt cgtgttgatt
     3481 ttgcttagaa ttttaattgt aaagggatgt gggatttcat caaatgcttt ttctctgtct
     3541 attgagatga tcatgtgatt tttgttttta attctgttta tgtggtgtat catatttatt
     3601 gacttatgta tcttaaacca tccctacatc cctggtatga aactcactta attatgggtg
     3661 gattagcttt tcgatatgct gtgggattca gttctctagt attatgttga ggatttttgc
     3721 atctatgttc atcagggata ttggtctgta gtctgtagtt ttcttttttt gttatgtctt
     3781 tcactggttt tggtattagg gtgacagtgg ctccacagaa tgatttacaa aggattccct
     3841 ctttatcctt tggaatagtg tcaataggat tggtattaat tcttctttga atgtctgata
     3901 gaattcagct gtgaatctgt ctggtcctgg actttttttt ggcaattttt ttcattacaa
     3961 tttcagtcat gctgcttgtt actggtctga tcagagattc tatatcttcc ttttttaatc
     4021 caggagggtt gtatagttcc aggaatttgg ttatctcttc caggtttttt agtttatctg
     4081 cacaaaggtg ttcatagtag ccttgattaa tcatttgtat ttctatggaa tcaattgtaa
     4141 tatctccctt ttcatttcta attgtgttta tttgcatctt ctctattctt ttttggttaa
     4201 tcttgctaat ggtctatcaa ctttattcgt ctttttaaag aactagcttt ttgtttcatt
     4261 tatcttttgt attttttttg tttcaatttc atttagttct gctctgatct tcattatttc
     4321 ttttcttctt ctgggtttgg gtttggattg ttcttgtttc tcctgttctg tgaggtgcga
     4381 cctaagatta tctctttgtg ctgtctcaga ctttttgatg taggcatcta atggaatgaa
     4441 ctttcctctt agcactgctt ttgctgtatc ccagaagttt tgctaggttt tgtcactatt
     4501 atcatccagt tcaaagaatt tttaaatttc cctcttgatt gcaatgttgt cccaataatc
     4561 atccaggagc aggttattta atttccatgt atttgcaagg ttttgagggt tccttttgga
     4621 gttgattttc aattttattc tactgtggtc tgagacagta cttgatataa ttttgatttt
     4681 cttaaattca ctgagacttg ttttttggcc tatcatatgg tctatcttgg agaatgttct
     4741 gtgtactgat gaatagaata tatactctgc agttgcttag tagaatgttc tgtaaatatc
     4801 tgttaatccc atttcttgta gcatatagtt taagtgcatt gtttcttttt ttactttctg
     4861 tcttaaagac ctgtctagtg ctctcagtgg agtattgaag tcccccacta ttattgcatt
     4921 gtcatctatc tcctttctta ggtctagtag taattgtttt ataaatttga gagttccact
     4981 gttatgtgca aatatatttt ggattgtaat attttcctgt tagactagcc cttttatcat
     5041 tacaaaatgt ccctctttgt ctttttttaa ctgctcttgc tttaaagttt gtttttttct
     5101 aatataagaa tatctattcc tgcttgcttt tggtgtcaat ttgcatggaa tatgttcttt
     5161 caccccttta acttaagttt atgtgagtcc ttatgtgttt ggtgagtttc ctgaagatgc
     5221 acaaacttgg ttggtgaatt cttatccatt ctgccattct gtatttttta agtggaacat
     5281 ttaggccact aacatcaatg tcggaattga gatgtgaggt actattctat acatcgtgct
     5341 atttgttacc tgaatatctg aagttttttt gtttgttttc attatgttat tgttatatag
     5401 gtcctgtaat atttatgctt taaggaggct ctatttggtg tattccaaga atttgtttca
     5461 aggtttagag ctcctttcag cagttcttgt tgtgcaggct tgatagtgtt gaattctctc
     5521 agcatttgtt tgtctgaaaa agatggtgcc tttccttcat ttctgaagca tagcttcgct
     5581 ggatacaaaa ttcttagcta ataattattt tatttaagga ggctgatgat agggcgccaa
     5641 tcccttctag cttgtagggc ttctgctaat aaatctgcta ataaatctgc tatcaatgtg
     5701 ataggttttt ctttacaggt tacctgatgc ttttctctca cggctgacat tttttccttt
     5761 gccttgactt tagataactt gttatgtacc tagggaatga tctttttgtc atgaatttcc
     5821 caggtgttct ttgagcttct tgagtttgga tgtttagatc cagcaaggct ggtagtaatt
     5881 ttcctctatt attccttcaa atatattttc cagactttta gatttctctt cttcctcaag
     5941 aacaccaatt attcttaggt ccggacattt gacatagtat caaacttctt ggaggctttg
     6001 tttttaggtt ttttttcttg tcttgaatga actgggttaa tttgaaagcc ttgtcttcaa
     6061 gctccgaggt tctttcttct gctcgttgga ttttattggt gagaatttcc agtgcatttc
     6121 acatttctct aagtgtgtcc ttgattttta gaagttgtga gtgtttttat ttatgctgtt
     6181 tatttcactg aagaattttt cttttatttt ctgtatcatg atttttattt ctttacatta
     6241 gacttcactt ttctttggtg cctctttgat tagcttaata attggcaata ctttttctgg
     6301 caattcagag atttcctctt cgtttggatc cattggtggt gaactggtgt gatcttttgg
     6361 gggtattaca gaaccttgtt ttatcatatt acagaatttt tttttctggt tccttcttat
     6421 ttgggtagac tatgtcagag ggaagacctg ggattcaagt tctgctgttc agtgtctttt
     6481 gtcccactga gtgctccctc gatgtggtgt tctcattccc ctaggaatga ggcttcctga
     6541 gagccaaact gtagtggctg tctagccaca cagtggagct accaggttcc atactggtac
     6601 ttgggagtgt ctgcaaagat cctgtaatat gatctgtctt caggtcttgc agccatggat
     6661 accagttcct gctccagtcg atgtagcagg ggagtgaaag gaactctgct agggtctttg
     6721 gttgtgtttt tgtttattgt gctgcttgtt ttgttggcct tcagccagga ggtagtgctt
     6781 tccagagtgc atcagcggcc cttagggagg atgcaaactt gccctaggga cacctggtca
     6841 agtattcagg tttctcaggt gatgggtgag gccatagagg taacaagaga ttatgacgtt
     6901 tgtcttcagc taccaaggtg gatagagaaa gaccaccagg tcagggtagg gatggctgtg
     6961 tctgagttca gcctcttctt gggtggggct tgctgctgct gctgctgtgg cagatggggg
     7021 tgtggtttcc agtccattgg agttatattc ctagggagat tatggctgcc tctgctgcaa
     7081 cacataggtc accagaaaag tgggagaaag ccggcagtca ccagcttcac tcagcatcca
     7141 cacagcccac agtcctaaag gccagtcgtg ctcccaccgt gcccacacaa cagcaccaag
     7201 tctatttcca ggcagctggt gaccagggct gagaatttgc cccagaccat gagcctctct
     7261 gttgagaaag caaacagact cacaggtttt cattgtctca gggagcctgc agtggtgatc
     7321 cagttccttc aaaggatctg tggattctct cagctttcct ggtatgttac tgcagtagtt
     7381 cttggcacaa aatttcacaa tgtgagtttc catacggtat tctgtgtcag gcctctgagc
     7441 ccaagttaag ccatcatatc ccttgtgacc tgcacgtata catccagatg gcctgaagca
     7501 actgaagatc cacaaaagaa gtgaaaatag ccttaactga tgacattcca ccattgtgat
     7561 ttgtttctgc cccaccctaa ctgatcagtg tactttgtaa tgtcccccac ccttaagaag
     7621 gttctttgta atctccccca cccttaagaa ggttctttgt aatctcccca actcttaaga
     7681 aggttctttg taattctccc cacccttgag agtgtacttt gtgagatcca ccacctgccc
     7741 ccaaaacatt gctcctaact ccactgccta tcccaaaacc tgtaagaact aatgataatc
     7801 ccaccacact ttgctgattc tcttttcgga ctcagcccac ctgcacccag gtgaaataaa
     7861 cagccttgtt gctcacacaa agcctgtttg gtggtctctt cacatggaca cttgagacac
     7921 tctgtccatc tgagtgggag ctgcaagcta gtcctgcctc ctatccacca tcttaatcct
     7981 agtcaggaca ttaaagtttt ctgtttattc agtatcataa atgttgaagt atgcaccaag
     8041 gtagcaaaca aatcttcttt tcccagggta taaactcaaa attttattga gactcttgaa
     8101 actcactttg gagtaaaagt taatacactg gacttttaca tttttagtct gtattttata
     8161 gtcattttta ttttgggggg actcttggag atgctgctgt gacttcaacc caggtgacat
     8221 cttaacattt gatctctaat tacttccatc acaaaaagtt aacttttatt atgggatccc
     8281 agatccaaat ttctttcaag ttgttaaaat tcatctaagc ttcacacact gatccaacag
     8341 agaaattgtt tcattattta aattctcagt ggatagataa tttacatgtg cccctaaact
     8401 gcacaatgat acttaaacat tttattaata attacaggac ttatattgaa atttagaata
     8461 taagtaaatg tttctgaatt ttcaaatgta agtatatttt tacataatag taattttttt
     8521 ttttttttaa ttacagagtc tcgctctggg gcccaggctg gagtgcggtg gtgcgatctt
     8581 ggctcactgc aacctcctcc ttccgggttc aagcaattct ccctgcctca gcctcccaag
     8641 tagctgagac tacaggggcc tgctaatctc tcagggccca tgcgaaatct atctcaatca
     8701 aaagtgcatt attcttagaa gcagatatta caaaatttaa tttcctaatt tggccaagtg
     8761 gcatgggctg agctaatttt tgtatttttc agtagagatg gggttttgcc ataaaataaa
     8821 attgtaataa ctctattgct gtcacattcc ctataaggaa aatcatttaa tcttagttgc
     8881 acaggcttta tttatattat tgattcacaa gagaatcaaa tttttctaaa attggtcaat
     8941 tgttttagca tttctgctct ttgaatagga ttagagttta tggaacaatg taaaatccta
     9001 taatatattt ccagtctttg aagtcctttt aaagaaaatc atgtccagca tatagattaa
     9061 gtggtcaaat agatatttcc acagtggctc aaagtaatac ataaagagaa taacatttag
     9121 actttattac atgactacag tacatgtgcc ttaccttgaa ataaatagtg aaactgtaca
     9181 tgaaacaaga agtatactaa tagccatcaa atattttaaa tattaattca taatgctata
     9241 cattaatgac tctagaatat gcatcacaac catttatata ttaggtagaa agaaagaaag
     9301 aaaatattca ataatcctta tctttttaac aattaagcaa aatgcataat taattatagt
     9361 tatcttaaat cacttggcca aataaggaaa ataaattttg taaaacctgc ttctaaatat
     9421 aatgtacttt ttattaagat agattcattt atatccacag atctatggtt atactgaagt
     9481 atagataatt taattcaggc caaaaactga tttttaaaaa ctcatatggt ttctaaatta
     9541 tccaaattat tttctaactt agtttttttt tctttttctt ggtctggtat taaagaagca
     9601 ttttccaaaa gttattgttt tataatttta aacataattt ttttctaagt taattgaaat
     9661 tactgataag gaaaatgaat aaagacacta tttaaattta tgctggctat gaaaaacaga
     9721 aaccaggctc ctgtctttgt ttccagtctc acctactttc agcagacagg acaatattta
     9781 ttctacagag tgttgtttta caacatccta tgtgaactca tttctctttt gaactcactg
     9841 ttactaataa tttaacatgt ttttacatca ttttgtttta ttcatattat aaaggattat
     9901 atatctgttg tgg
//
LOCUS       NM_001004690             939 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily M member 5
            (OR2M5), mRNA.
ACCESSION   NM_001004690
VERSION     NM_001004690.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366476.1/ ENSP00000355432.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL592313.7.
            On Sep 19, 2004 this sequence version replaced XM_060301.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..939
                     /gene="OR2M5"
                     /gene_synonym="OR2M5P"
                     /note="olfactory receptor family 2 subfamily M member 5"
                     /db_xref="GeneID:127059"
                     /db_xref="HGNC:HGNC:19576"
     CDS             1..939
                     /gene="OR2M5"
                     /gene_synonym="OR2M5P"
                     /note="olfactory receptor, family 2, subfamily M, member 5
                     pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 2M5"
                     /protein_id="NP_001004690.1"
                     /db_xref="CCDS:CCDS31105.1"
                     /db_xref="GeneID:127059"
                     /db_xref="HGNC:HGNC:19576"
                     /translation="MAWENQTFNSDFILLGIFNHSPTHTFLFFLVLAIFSVAFMGNSVM
                     VLLIYLDTQLHTPMYFLLSQLFLMDLMLICSTVPKMAFNYLSGSKSISMAGCATQIFFY
                     VSLLGSECFLLAVMSYDRYIAICHPLRYTNLMRPKICGLMTAFSWILGSMDAIIDAVAT
                     FSFSYCGSREIAHFFCDFPSLLILSCNDTSIFEKVLFICCIVMIVFPVAIIIASYARVI
                     LAVIHMGSGEGRRKAFTTCSSHLMVVGMYYGAGLFMYIRPTSDRSPMQDKLVSVFYTIL
                     TPMLNPLIYSLRNKEVTRALRKVLGKGKCGE"
     misc_feature    13..15
                     /gene="OR2M5"
                     /gene_synonym="OR2M5P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A3KFT3.1); glycosylation site"
     misc_feature    76..147
                     /gene="OR2M5"
                     /gene_synonym="OR2M5P"
                     /note="propagated from UniProtKB/Swiss-Prot (A3KFT3.1);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR2M5"
                     /gene_synonym="OR2M5P"
                     /note="propagated from UniProtKB/Swiss-Prot (A3KFT3.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR2M5"
                     /gene_synonym="OR2M5P"
                     /note="propagated from UniProtKB/Swiss-Prot (A3KFT3.1);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR2M5"
                     /gene_synonym="OR2M5P"
                     /note="propagated from UniProtKB/Swiss-Prot (A3KFT3.1);
                     transmembrane region"
     misc_feature    586..657
                     /gene="OR2M5"
                     /gene_synonym="OR2M5P"
                     /note="propagated from UniProtKB/Swiss-Prot (A3KFT3.1);
                     transmembrane region"
     misc_feature    709..777
                     /gene="OR2M5"
                     /gene_synonym="OR2M5P"
                     /note="propagated from UniProtKB/Swiss-Prot (A3KFT3.1);
                     transmembrane region"
     misc_feature    817..876
                     /gene="OR2M5"
                     /gene_synonym="OR2M5P"
                     /note="propagated from UniProtKB/Swiss-Prot (A3KFT3.1);
                     transmembrane region"
ORIGIN
        1 atggcatggg agaatcagac cttcaactct gacttcatcc tcctgggaat cttcaatcac
       61 agccccaccc acaccttcct cttctttctg gtcctggcca tcttttcagt ggccttcatg
      121 ggaaactctg tcatggttct cctcatctac ctggacaccc agctccacac ccccatgtac
      181 ttcctcctca gtcaactgtt cctcatggac ctcatgctca tctgctctac cgtacccaag
      241 atggccttca actacttgtc tggcagcaag tccatttcta tggctggttg tgccacacaa
      301 attttcttct atgtatcact gcttggctcc gaatgctttc tgttggctgt tatgtcttat
      361 gaccgctata ttgccatttg ccaccctcta agatacacca atctcatgag acccaaaatt
      421 tgtggactta tgactgcctt ctcctggatc ctgggctcta tggatgcaat cattgatgct
      481 gtagcgacat tttccttctc ctactgtggg tctcgggaaa tagcccactt cttctgtgac
      541 ttcccttccc tactaatcct ctcatgcaat gacacatcaa tatttgaaaa ggttcttttc
      601 atctgctgta tagtaatgat tgtttttcct gttgcaatca tcatcgcttc ctatgctcga
      661 gttattctgg ctgtcattca catgggatct ggagagggtc gtcgcaaagc ttttactacc
      721 tgttcctctc acctcatggt ggtgggaatg tactatggag caggtttgtt catgtacata
      781 cggcccacat ctgatcgctc ccctatgcag gacaagctgg tgtctgtatt ctacaccatc
      841 ctcactccca tgctgaatcc cctcatctac agcctccgca acaaggaggt gaccagagca
      901 ctcaggaaag tgttaggaaa gggcaagtgt ggagagtga
//
LOCUS       NM_001004691             939 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily M member 7
            (OR2M7), mRNA.
ACCESSION   NM_001004691
VERSION     NM_001004691.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Eriksson N, Macpherson JM, Tung JY, Hon LS, Naughton B, Saxonov S,
            Avey L, Wojcicki A, Pe'er I and Mountain J.
  TITLE     Web-based, participant-driven studies yield novel genetic
            associations for common traits
  JOURNAL   PLoS Genet 6 (6), e1000993 (2010)
   PUBMED   20585627
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
REFERENCE   2  (bases 1 to 939)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136944.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000317965.3/ ENSP00000324557.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL450303.10.
            On Sep 19, 2004 this sequence version replaced XM_372827.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..939
                     /gene="OR2M7"
                     /gene_synonym="OR1-58"
                     /note="olfactory receptor family 2 subfamily M member 7"
                     /db_xref="GeneID:391196"
                     /db_xref="HGNC:HGNC:19594"
                     /db_xref="MIM:618509"
     CDS             1..939
                     /gene="OR2M7"
                     /gene_synonym="OR1-58"
                     /note="olfactory receptor OR1-58; OR2M7 N; OR2M7 O; OR2M7
                     D"
                     /codon_start=1
                     /product="olfactory receptor 2M7"
                     /protein_id="NP_001004691.1"
                     /db_xref="CCDS:CCDS31111.1"
                     /db_xref="GeneID:391196"
                     /db_xref="HGNC:HGNC:19594"
                     /db_xref="MIM:618509"
                     /translation="MAWENQTFNSDFLLLGIFNHSPTHTFLFFLVLAIFSVAFMGNSIM
                     VLLIYLDTQLHTPMYFLLSQLSLMDLMLICTTVPKMAFNYLSGSKSISMAGCATQIFFY
                     ISLLGSECFLLAVMSYDRYTAICHPLRYTNLMRPKICGLMTAFSWILGSTDGIIDAVAT
                     FSFSYCGSREIAHFCCDFPSLLILSCNDTSIFEEVIFICCIVMLVFPVAIIITSYARVI
                     LAVIHMGSGEGRRKAFTTCSSHLMVVGMYYGAGLFMCIQPTSHHSPMQDKMVSVFYTIV
                     TPMLNPLIYSLRNKEVTRALMKILGKGKSGD"
     misc_feature    13..15
                     /gene="OR2M7"
                     /gene_synonym="OR1-58"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NG81.1); glycosylation site"
     misc_feature    76..147
                     /gene="OR2M7"
                     /gene_synonym="OR1-58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG81.1);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR2M7"
                     /gene_synonym="OR1-58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG81.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR2M7"
                     /gene_synonym="OR1-58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG81.1);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR2M7"
                     /gene_synonym="OR1-58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG81.1);
                     transmembrane region"
     misc_feature    586..657
                     /gene="OR2M7"
                     /gene_synonym="OR1-58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG81.1);
                     transmembrane region"
     misc_feature    709..777
                     /gene="OR2M7"
                     /gene_synonym="OR1-58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG81.1);
                     transmembrane region"
     misc_feature    817..876
                     /gene="OR2M7"
                     /gene_synonym="OR1-58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG81.1);
                     transmembrane region"
ORIGIN
        1 atggcatggg agaatcagac cttcaactct gacttcctcc tcctgggaat cttcaatcat
       61 agccccaccc acaccttcct cttctttctg gtcctggcca tcttttcagt ggccttcatg
      121 ggaaactcca tcatggttct cctcatctac ctggataccc agctccacac ccccatgtac
      181 ttcctcctca gccaactgtc cctcatggac ctcatgctca tctgcaccac tgtacccaag
      241 atggccttca actacttgtc tggcagcaag tccatttcta tggctggctg tgccacacaa
      301 attttcttct atatatcatt gcttggctcc gaatgctttc tgttggctgt tatgtcttat
      361 gaccgctaca ctgccatttg ccaccctcta agatacacca atctcatgag acccaaaatt
      421 tgtggactta tgactgcctt ctcctggatc ctgggctcta cagatggaat cattgatgct
      481 gtagcgacat tttccttctc ctactgtggg tctcgggaaa tagcccactt ctgctgtgac
      541 ttcccttccc tactaatcct ctcatgcaat gacacatcaa tatttgaaga ggttattttc
      601 atctgctgta tagtaatgct tgttttccct gttgcaatca tcatcacttc ctatgctcga
      661 gttattctgg ctgtcattca catgggatct ggagagggac gtcgcaaagc ttttactact
      721 tgttcctctc acctcatggt ggtgggaatg tactatggag caggtttgtt catgtgcatt
      781 cagcccacat ctcatcattc tcctatgcag gacaagatgg tgtctgtatt ctacaccatc
      841 gtcactccca tgctgaatcc tctcatttat agcctccgca acaaggaagt gaccagagca
      901 ttaatgaaaa tcttaggaaa gggcaagtct ggagattga
//
LOCUS       NM_001004692            5708 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily T member 12
            (OR2T12), transcript variant 1, mRNA.
ACCESSION   NM_001004692
VERSION     NM_001004692.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5708)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5708)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641276.1/ ENSP00000493000.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL450303.10.
            On Aug 5, 2020 this sequence version replaced NM_001004692.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the allele encoded
            by the GRCh38 reference genome and encodes the longer isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5708
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..5708
                     /gene="OR2T12"
                     /gene_synonym="OR1-57"
                     /note="olfactory receptor family 2 subfamily T member 12"
                     /db_xref="GeneID:127064"
                     /db_xref="HGNC:HGNC:19592"
     misc_feature    221..223
                     /gene="OR2T12"
                     /gene_synonym="OR1-57"
                     /note="upstream in-frame stop codon"
     CDS             269..1231
                     /gene="OR2T12"
                     /gene_synonym="OR1-57"
                     /note="isoform 1 is encoded by transcript variant 1;
                     olfactory receptor 2T12; olfactory receptor OR1-57; novel 7
                     transmembrane receptor (rhodopsin family) protein"
                     /codon_start=1
                     /product="olfactory receptor 2T12 isoform 1"
                     /protein_id="NP_001004692.1"
                     /db_xref="CCDS:CCDS31110.1"
                     /db_xref="GeneID:127064"
                     /db_xref="HGNC:HGNC:19592"
                     /translation="MEMRNTTPDFILLGLFNHTRAHQVLFMMLLATVLTSLFSNALMIL
                     LIHWDHRLHRPMYFLLSQLSLMDMMLVSTTVPKMAADYLTGNKAISRAGCGVQIFFLPT
                     LGGGECFLLAAMAYDRYAAVCHPLRYPTLMSWQLCLRMTMSSWLLGAADGLLQAVATLS
                     FPYCGAHEIDHFFCEAPVLVRLACADTSVFENAMYICCVLMLLVPFSLILSSYGLILAA
                     VLLMRSTEARKKAFATCSSHVAVVGLFYGAGIFTYMRPKSHRSTNHDKVVSAFYTMFTP
                     LLNPLIYSVRNSEVKEALKRWLGTCVNLKHQQNEAHRSR"
     misc_feature    317..319
                     /gene="OR2T12"
                     /gene_synonym="OR1-57"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NG77.1); glycosylation site"
     misc_feature    338..409
                     /gene="OR2T12"
                     /gene_synonym="OR1-57"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG77.1);
                     transmembrane region"
     misc_feature    434..499
                     /gene="OR2T12"
                     /gene_synonym="OR1-57"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG77.1);
                     transmembrane region"
     misc_feature    563..622
                     /gene="OR2T12"
                     /gene_synonym="OR1-57"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG77.1);
                     transmembrane region"
     misc_feature    680..736
                     /gene="OR2T12"
                     /gene_synonym="OR1-57"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG77.1);
                     transmembrane region"
     misc_feature    848..919
                     /gene="OR2T12"
                     /gene_synonym="OR1-57"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG77.1);
                     transmembrane region"
     misc_feature    971..1039
                     /gene="OR2T12"
                     /gene_synonym="OR1-57"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG77.1);
                     transmembrane region"
     misc_feature    1079..1138
                     /gene="OR2T12"
                     /gene_synonym="OR1-57"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG77.1);
                     transmembrane region"
ORIGIN
        1 aagatattta tatgtttttg cctttttagg aaactacaat ctcattgaaa atatacacta
       61 ttcagatcag tactaagagt gaagagtcct ggataacttg gagttgcaat gatatttcac
      121 cacagatcca tttttatagg aatatataca aatacctctt ggaatcccaa tgttatcttc
      181 actgcatttt cagattgttt atatcctgga taacttacac tgagcttcag gattgggtct
      241 catattcctg gtgcctaaag gggaaattat ggagatgaga aatactaccc cagattttat
      301 tctcctagga ctctttaacc acaccagagc ccaccaagtc ctcttcatga tgcttctggc
      361 caccgttttg acctccctgt ttagcaatgc cctcatgatt ctcctgattc actgggacca
      421 ccggctccac aggcccatgt acttcctcct gagccaactt tccctcatgg acatgatgct
      481 ggtttccacc actgtgccca aaatggcggc tgactacttg accggaaata aggccatctc
      541 ccgcgctggc tgtggtgtgc agatcttctt cctccccaca ctgggtggtg gagagtgctt
      601 cctcttagca gccatggcct atgaccgcta tgcggctgtc tgccacccac tccgatatcc
      661 cactctcatg agctggcagc tgtgcctgag gatgaccatg tcgtcctggc tcctgggtgc
      721 agctgacggc ctcctgcagg ctgttgctac cctgagcttc ccatattgcg gtgcacacga
      781 gatcgatcac ttcttctgcg aggcccccgt gttggtgcgt ttggcttgtg ctgacacttc
      841 agtcttcgaa aacgccatgt acatctgctg tgtgttaatg ctcctggtcc ccttttccct
      901 catcctgtcc tcctatggtc tcatcctcgc tgctgttctg ctcatgcgct ctacagaagc
      961 ccgcaagaag gcctttgcca cctgctcttc acatgtggct gtggtgggac tcttttatgg
     1021 agctggcatt tttacctata tgagacccaa atcccacagg tccactaacc acgataaggt
     1081 tgtgtcagcc ttctatacta tgttcacccc tttactaaat cccctcatct acagtgtgag
     1141 gaacagtgag gtcaaggaag ccctgaaacg gtggctgggg acgtgtgtaa acctaaaaca
     1201 ccagcaaaat gaggcccaca ggtcaagatg atctagtgtc agatgagtct aagttcctga
     1261 atttattaac attttaacac tatgtaattc tctcccttta gtaattcatg aagagaaaat
     1321 taagtttgtg tattgatata ataagatatt tttaagaatg aagtgagcca attgtattga
     1381 cagataccat ttttgagcat ttatgtactt ttcttcaagt gaagtaatac ctatagatta
     1441 ctttgtatcc tacaacaacc ccatgatata agttttcttt ttttcttttg caaactccaa
     1501 atctttaaaa ggtgtcccaa atttttcatc aaaaatatct ctacttacct atgccttggg
     1561 agaagtaagg taacccaata atgtataagg ttgttgagtg ttactcaatt tcctactatc
     1621 tgaaaaaaga aattaacaca tggaaagtta aatatggttc ctaatttcac atagaacaga
     1681 aatattaaaa agtgactcca aagcttgtac cctaacctgg aagagtttat ttctgttcaa
     1741 taatgtattt tgagtgttat ttcccatgtg tatgctctac aattaaaaac taaatatgag
     1801 gactccacca aagacaaata acattatttt taagttatat tttaaaatat agatgcatga
     1861 caaaagggga agtacacaac tcaaatgtaa ctgctatatt gtcacaatct ttttttattt
     1921 tttccagtct ctttttattt ggtgttttaa ggcaaacttt tttaaattca tgtaattttt
     1981 tatataagta atatttatct tttccaagag cgtcattgta attgcattgg aaaattgttt
     2041 taaactacaa ataagttctc ttttctacac gtgctttaag gttaccttga cttattgaca
     2101 tacctccatc gatatgaact ctgaattgca tgatcatgct gaatcttgac agttactaac
     2161 aatgagttat caaagctgag taagactcaa caaccttata cattattggg ttaccttact
     2221 tctcccaagg cataggtaag tagagatatt tctgatgaaa aatttgggac acattttaaa
     2281 gatttggagt ttgcagaaga ataaaagaag actatactat tattaaagac acaagataga
     2341 tagtgatgga ggaaagcagt ggttatcaaa gccaaattgt aatcagagac tggatatcaa
     2401 attgtcttag agagttttat gataaaggct atatttccca tatgtaaaac acacttaaga
     2461 aataatataa gtttttaaca cgaaggagga aataactaag agcttccagg gacaatgtat
     2521 cttcaatata agtgtctgaa agttaacccg ccatttcaga ccaacctgaa tttcaaaagg
     2581 taactgttct agaacaagtg aaaggagttt cctgcttcat ctagatcttc aggttccaaa
     2641 gcagtaatat agttaagata gtaccttaac cactgcatgc agatcctgag cccatgtctt
     2701 aagagaaggc tattcagtaa actcttgtct ccttggaaga cttgaggatg acaggagaga
     2761 gtgtcatctg tttaagacta agagtttcct actcttgtta attaatctcc ttacccagtg
     2821 ttagagtgag aaaggaacag aactgcacaa attctgtcat tataccatct aaaaaatctt
     2881 ctcttagaat gggtgaaaat tacacaagta catgtagtcg tggaaatttc attactcata
     2941 ccaggttcat gcaccatcag agaaattatt ttagaacacg ttgagttaca aatggtaaac
     3001 taagccttta aaattttgta aggataaaat attctaacca gaaaattaag cctaatgttc
     3061 aggagaaaac taaaacaaca acaacaacaa aaccacggaa tgaacattat ctccaagcaa
     3121 acgtaagaca ttaataaaaa cacaaaatat gtataaaaat agacatgttt caaagaagtg
     3181 gtatttcaga ctagttatct gatcacaatg aaaataaata tgaaataaaa attttaaata
     3241 cttttagaaa ttatatgttc atttcttatt gcttttgtaa cttgcagatg tttctactct
     3301 tattttctta ataaaggttt gcatagaaaa tcttcaaaat cttcaaaatg acaggttaac
     3361 tttcagacac ttatattgaa gatacattgt ctctggaagc ttttagttat ttcccattgt
     3421 gtgtttgaaa atgagaagat atggttctta tgaatctcta aagttaaaga aggagtacct
     3481 gatagagaca gagtatacaa gagcatgaat ggtagaaaca aaattttgaa tgaggagtta
     3541 cttcgaacat atgaagctct agcacccagt aacacagaat caagatgagg ctttgaacta
     3601 atcttggata ttacctgcta tcttcaatca ttctggctct ttcctttaca ctgcctatat
     3661 attctcttta atgtgtaatt tttaagtcat taagaaacat aatgttgtgg ctccgactag
     3721 aatttattca tcttctgctg tgcagaagct atttagttta attatatccc atttgtcaat
     3781 tttggctttt gttgccattg ctttggtgtt ttagtcatga agtctttgcc catgcctatg
     3841 tcctgaatgg tactgcctag gttttcttct agggttttta tggttttatg ttttatgttt
     3901 aagtcttcat cttgagtgat tttttgtata aagttgaagg aaggggtcca gtttcagttt
     3961 tctccatatg gctagccagt tttcccaaca tcatttatta aatagggaat cctttcccca
     4021 ttgcttgttt ttgtcaggtt tgtcaaagaa gagatggttg tatggcatga attctgaggc
     4081 ctctgttctg tttattggtc tatatatctg ttttggtacc agtaccatgc tgttttggtt
     4141 actgtagcct tgtagtaaag tttgaagtaa ggtagcatga tgccaccagc tttgttcttt
     4201 ttgcttagga ttgtcttggc taaatgggct ctttattgat tccatatgaa atttaaagta
     4261 tttttttcta attctgtgaa gaaagtctat ggtagcttga tggggatagc actgaatgta
     4321 ttaattactt tgggcactat ggtttttttc atggtattga ttcttcctat ccatgagcat
     4381 ggaatatttt ttcatttgtt tgtgtcctct cttatttcct tgagcagtgg tttgtagttc
     4441 tccttgaaga ggtccttcat atcctttata agttgtattc ctaggtgttt tattcccttt
     4501 gtagcaattc tgaatgggaa ttcactcatg atttggctct ctgtctatta ttggtgtatg
     4561 ggaaagcttg tgatttttac acattgatat tgtatcctga gactttgctg aagttgctta
     4621 tcagcttaag gagattttga gctgagatga tggggtgttc taaatatgca atcatgtaat
     4681 ctgcaaacag aggcagtttg acttcctctc ttcctttgga ttcatcagag taaacaggca
     4741 acttagagaa tgggagaaaa tttttgcaat ctatccatct gacaaatggc taatatcaag
     4801 aatctacaag gaacttaaac atatttataa gaaaaaaaaa acaaccccat caaaaagtgg
     4861 gcaaagtata tgaacagaca tttctcaaac gaagacattt atgtggccaa gaaatatatg
     4921 aaaaaaagct catcatcact ggtccttata gaaatgcaaa tcgaaaccac agtgagatac
     4981 catgtcacat cagttagaat ggcaattatt aaaaagtcac caacatggca catgtataca
     5041 tatgtaacaa acctgcacat tgtgcacatg taccctaaaa cttaaagtat aataaaataa
     5101 agtaaaaaaa gtcaggaaac aacagacgct ggcacgtatg cggagaaata gcaacgcttt
     5161 taccatgttg ttttgggagt gtaaattagt tcaaccattg tggaagacag tgtggtgatt
     5221 cctcaaggat ctagaactag aaatgccatt tgacccagaa atcccatttc tgggtatata
     5281 cccaaaggat tttaaatcat tccactaaaa agacacatgc acacatatgt ttattgcagt
     5341 tattcccaat agtaaatatg tgaatccaac ccaaaagccc atcaatgata gactggctaa
     5401 agtagctgtg gcacatatac accacaaata ctatacagcc attggaaagg atgagtttat
     5461 gtcctttgca gggacatgga tgaaactgga gaccatcatt cccaggaaac taacacagga
     5521 acagaaaacc aaacaccgca tgttctcatt cataagtgga attaaatagg gaatcctttc
     5581 cccattgctt gtttttgtca gggttgtcaa agaacagatg gttgtatggc attaattctg
     5641 aggcctcttt tctgtttatg aggcctctgt tcatgaacaa tgagaataca tggacacagg
     5701 gagggaaa
//
LOCUS       NM_001004693            3519 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily T member 10
            (OR2T10), mRNA.
ACCESSION   NM_001004693
VERSION     NM_001004693.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3519)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642090.1/ ENSP00000493236.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC098483.2.
            On Aug 14, 2020 this sequence version replaced NM_001004693.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..3519
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..3519
                     /gene="OR2T10"
                     /gene_synonym="OR1-64"
                     /note="olfactory receptor family 2 subfamily T member 10"
                     /db_xref="GeneID:127069"
                     /db_xref="HGNC:HGNC:19573"
     misc_feature    211..213
                     /gene="OR2T10"
                     /gene_synonym="OR1-64"
                     /note="upstream in-frame stop codon"
     CDS             238..1176
                     /gene="OR2T10"
                     /gene_synonym="OR1-64"
                     /note="olfactory receptor OR1-64"
                     /codon_start=1
                     /product="olfactory receptor 2T10"
                     /protein_id="NP_001004693.1"
                     /db_xref="CCDS:CCDS31121.1"
                     /db_xref="GeneID:127069"
                     /db_xref="HGNC:HGNC:19573"
                     /translation="MRLANQTLGGDFFLLGIFSQISHPGRLCLLIFSIFLMAVSWNITL
                     ILLIHIDSSLHTPMYFFINQLSLIDLTYISVTVPKMLVNQLAKDKTISVLGCGTQMYFY
                     LQLGGAECCLLAAMAYDRYVAICHPLRYSVLMSHRVCLLLASGCWFVGSVDGFMLTPIA
                     MSFPFCRSHEIQHFFCEVPAVLKLSCSDTSLYKIFMYLCCVIMLLIPVTVISVSYYYII
                     LTIHKMNSVEGRKKAFTTCSSHITVVSLFYGAAIYNYMLPSSYQTPEKDMMSSFFYTIL
                     TPVLNPIIYSFRNKDVTRALKKMLSVQKPPY"
     misc_feature    250..252
                     /gene="OR2T10"
                     /gene_synonym="OR1-64"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGZ9.1); glycosylation site"
     misc_feature    313..384
                     /gene="OR2T10"
                     /gene_synonym="OR1-64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ9.1);
                     transmembrane region"
     misc_feature    409..474
                     /gene="OR2T10"
                     /gene_synonym="OR1-64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ9.1);
                     transmembrane region"
     misc_feature    538..597
                     /gene="OR2T10"
                     /gene_synonym="OR1-64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ9.1);
                     transmembrane region"
     misc_feature    655..711
                     /gene="OR2T10"
                     /gene_synonym="OR1-64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ9.1);
                     transmembrane region"
     misc_feature    823..894
                     /gene="OR2T10"
                     /gene_synonym="OR1-64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ9.1);
                     transmembrane region"
     misc_feature    946..1014
                     /gene="OR2T10"
                     /gene_synonym="OR1-64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ9.1);
                     transmembrane region"
     misc_feature    1054..1113
                     /gene="OR2T10"
                     /gene_synonym="OR1-64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ9.1);
                     transmembrane region"
ORIGIN
        1 tcagctgctc ttcagggaga gtcatcaagt tcataagtgt ttcatcatct gaaacccttt
       61 cgcagaaaag caggctggtg tttcactgat cacagagcag attgatcaca acgaaaatga
      121 caaggctgtc attcatcggg acgactatac tggaagtatc ttattggaaa taaaattcct
      181 cagggtatta catttcttcc tttgttccag taaagccact tcagccgatc atacagcatg
      241 cggctggcca accagaccct gggtggtgac tttttcctgt tgggaatctt cagccagatc
      301 tcacaccctg gccgcctctg cttgcttatc ttcagtatat ttttgatggc tgtgtcttgg
      361 aatattacat tgatacttct gatccacatt gactcctctc tgcatactcc catgtacttc
      421 tttataaacc agctctcact catagacttg acatatattt ctgtcactgt ccccaaaatg
      481 ctggtgaacc agctggccaa agacaagacc atctcggtcc ttgggtgtgg cacccagatg
      541 tacttctacc tgcagttggg aggtgcagag tgctgccttc tagccgccat ggcctatgac
      601 cgctatgtgg ctatctgcca tcctctccgt tactctgtgc tcatgagcca tagggtatgt
      661 ctcctcctgg catcaggctg ctggtttgtg ggctcagtgg atggcttcat gctcactccc
      721 atcgccatga gcttcccctt ctgcagatcc catgagattc agcacttctt ctgtgaggtc
      781 cctgctgttt tgaagctctc ttgctcagac acctcacttt acaagatttt catgtacttg
      841 tgctgtgtca tcatgctcct gatacctgtg acggtcattt cagtgtctta ctactatatc
      901 atcctcacca tccataagat gaactcagtt gagggtcgga aaaaggcctt caccacctgc
      961 tcctcccaca ttacagtggt cagcctcttc tatggagctg ctatttacaa ctacatgctc
     1021 cccagctcct accaaactcc tgagaaagat atgatgtcat cctttttcta cactatcctt
     1081 acacctgtct tgaatcctat catttacagt ttcaggaata aggatgtcac aagggctttg
     1141 aaaaaaatgc tgagcgtgca gaaacctcca tattaaagtg tgaaagaact taagttggtc
     1201 ctctcttctt agagtctctc ttcactttag gtgtccttcc accaaacaat cagcatattg
     1261 tggtagtgtc tgactccctg agttgtcctt cagggggatt cagcccagtg ttcttccctc
     1321 ctataatcac acttgagatg atgttcactt atccccccct tccctcgtag cattgatctc
     1381 tagtccagtc cttcggggcc aatggtcctt tttttagatt acagtggaga aatatgaaaa
     1441 taaatgtgtt tatgaccctt gagcaccttc caccacagag aaaatttgtt ttgctatcat
     1501 gggcccattg atgagtatga aataacacca tattcagagt gttcctcagc atccactctg
     1561 tgctaaacgc ttttcgttca ccacctcatt cgaccttcac cctctgtggc tgaggctaag
     1621 gtcacccaca tttcacaaat gacaaaacag cctttgaggc ttcccctgac ttgccccaag
     1681 caggggatcc tcagggacaa gggggttcat tcatccatag gcatttggag ataaacacat
     1741 tcaagacctc agagatgcta aatgtacagt tgagattttt cttccatcag aatttctaga
     1801 atgtgttctc aatcaaattc ttattttctg tgagcatata agaagtcaaa cctcccaaaa
     1861 ttagagcaga gacatgggct atccagtaga catgggctac aacatgtttg gagtataatt
     1921 ggtttattca tagacttaac cagagaaata tggaagtttc gcacacttct ccctgttcaa
     1981 gccaatggtg acacatactt agaatataat ttcaaatcac agttttacgt atgtgcatgg
     2041 ttgtatttgt atttaacaaa taacataata attataacgt cttgtgtgat tattatgatc
     2101 tggcaccatt tttagtgcgt gacatgtatg gaacactttt attttcacag cctattatta
     2161 gccttattct acagttgatt taactgaaac ccatgggttt gagtaacatg aacaaaaggg
     2221 tgtgcagctt ataaagtgct caacagggat ttaagcccag gcaggcaggc cggagtccct
     2281 gcccctgacc actgcatgtg ccacgtcttg tggagtctgt ggccttttcc acactgcatt
     2341 gcctctccct ctgggagggc catactccaa ccttggaaac actatagttc tttccatacc
     2401 caatgttttc acgtggcttt ccctctcttc ggaatgtttt tttatctgta agtacaagga
     2461 tacgaagata actttccatg actacataat cttcctttag gccccaagtc attcattcat
     2521 tcaacaaata actactgagc ccctatagtt tgccaggccc cgttctacaa actgaggata
     2581 catcagtgag caaaacaaat aaaaatcttc atctttttta gcacttaaag ggtgtataca
     2641 gaaaataaat ttggtaattg agaagaagac atggagtatt atcagaagaa aagtgttgga
     2701 aaatcttgag caggagaggg gtcttggagt gtgtaggggt cacgttttat gtagggattt
     2761 aggctaatcc tcactggtta tagttgagca aagatgtgga gtttacaagt taatgagcca
     2821 cattgatatt gggagaaatg ctttcaagac agagcatagg gacatctacc agcctgtcaa
     2881 tcaagagtcc agtaggacca tgtctcagta atagggatga actagatgta gattgagtct
     2941 aactccaatt ataaaaaatg atagtaaaat aaatttttcc aacaaacaaa agtggataaa
     3001 attcttcagc catagaaaaa ttatctcaaa agtaaactca gaaatataag caaaaatgac
     3061 aaacatcaac cccaaagagt aatatgtaaa tgagtcataa tcaatattga cttagcaata
     3121 attttaatgt aatatacagt ttagatttgt gcaaaactta aatgtatgaa aaatcatgtt
     3181 gaagatatat caatattgat gtagtagagg tagtaatttg tgttaaactt tagtaaatca
     3241 agagtacatg ctgtaatgtt tatagtaaac gccaaaacaa gtttataaaa tgaaaaaatg
     3301 atagattttt atatttctaa aagaagcaac gaaagaatga aaaagagacg tgaaacagat
     3361 gggccaaata gaatatggtt agaagttata gctcacatag aaccccaatt atatcagtaa
     3421 ttattacaca ttgcatgcat gtatcaaaat atcacatgtg ccccataagt atgtagaaat
     3481 attatgtatc aataaaatat gtaatatact aaatgttcc
//
LOCUS       NM_001004694            2637 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily T member 29
            (OR2T29), mRNA.
ACCESSION   NM_001004694
VERSION     NM_001004694.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2637)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641069.1/ ENSP00000492895.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC098483.2.
            On Jul 29, 2020 this sequence version replaced NM_001004694.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on homologous alignments.
FEATURES             Location/Qualifiers
     source          1..2637
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..2637
                     /gene="OR2T29"
                     /note="olfactory receptor family 2 subfamily T member 29"
                     /db_xref="GeneID:343563"
                     /db_xref="HGNC:HGNC:31253"
     misc_feature    49..51
                     /gene="OR2T29"
                     /note="upstream in-frame stop codon"
     CDS             58..1005
                     /gene="OR2T29"
                     /codon_start=1
                     /product="olfactory receptor 2T29"
                     /protein_id="NP_001004694.2"
                     /db_xref="CCDS:CCDS55695.1"
                     /db_xref="GeneID:343563"
                     /db_xref="HGNC:HGNC:31253"
                     /translation="MANITRMANHTGRLDFILMGLFRQSKHPALLSVVIFVVFLKALSG
                     NAVLILLIHCDAHLHSPMYFFISQLSLMDMAYISVTVPKMLLDQVMGVNKVSAPECGMQ
                     MFLYLTLAGSEFFLLATMAYDRYVAICHPLRYPVLMNHRVCLFLASGCWFLGSVDGFML
                     TPITMSFPFCRSWEIHHFFCEVPAVTILSCSDTSLYETLMYLCCVLMLLIPVTIISSSY
                     LLILLTVHRMNSAEGRKKAFATCSSHLTVVILFYGAAVYTYMLPSSYHTPEKDMMVSVF
                     YTILTPVLNPLIYSLRNKDVMGALKKMLTVRFVL"
     misc_feature    64..66
                     /gene="OR2T29"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH02.2); glycosylation site"
     misc_feature    82..84
                     /gene="OR2T29"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH02.2); glycosylation site"
     misc_feature    145..216
                     /gene="OR2T29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH02.2);
                     transmembrane region"
     misc_feature    241..306
                     /gene="OR2T29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH02.2);
                     transmembrane region"
     misc_feature    370..429
                     /gene="OR2T29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH02.2);
                     transmembrane region"
     misc_feature    487..543
                     /gene="OR2T29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH02.2);
                     transmembrane region"
     misc_feature    655..726
                     /gene="OR2T29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH02.2);
                     transmembrane region"
     misc_feature    778..846
                     /gene="OR2T29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH02.2);
                     transmembrane region"
     misc_feature    886..945
                     /gene="OR2T29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH02.2);
                     transmembrane region"
ORIGIN
        1 cacacaccac cagcccatct aggtgaggtt caagacatca tctgatggtg aaacctcatg
       61 gccaacatca ccaggatggc caaccacact ggaaggttgg atttcatcct catgggactc
      121 ttcagacaat ccaaacatcc agctctactt agtgtggtca tctttgtggt tttcctgaag
      181 gcgttgtctg gaaatgctgt cctgatcctt ctgatacact gtgacgccca cctccacagc
      241 cccatgtact ttttcatcag tcaattgtct ctcatggaca tggcgtacat ttctgtcact
      301 gtgcccaaga tgctcctgga ccaggtcatg ggtgtgaata aggtctcagc ccctgagtgt
      361 gggatgcaga tgttcctcta tctgacacta gcaggttcgg aatttttcct tctagccacc
      421 atggcctatg accgctacgt ggccatctgc catcctctcc gttaccctgt cctcatgaac
      481 catagggtct gtcttttcct ggcatcgggc tgctggttcc tgggctcagt ggatggcttc
      541 atgctcactc ccatcaccat gagcttcccc ttctgcagat cctgggagat tcatcatttc
      601 ttctgtgaag tccctgctgt aacgatcctg tcctgctcag acacctcact ctatgagacc
      661 ctcatgtacc tatgctgtgt cctcatgctc ctcatccctg tgacgatcat ttcaagctcc
      721 tatttactca tcctcctcac cgtccacagg atgaactcag cagagggccg gaaaaaggcc
      781 tttgccacct gctcctccca cctgactgtg gtcatcctct tctatggggc tgccgtctac
      841 acctacatgc tccccagctc ctaccacacc cctgagaagg acatgatggt atctgtcttc
      901 tataccatcc tcactccggt gctgaaccct ttaatctata gtcttaggaa taaggatgtc
      961 atgggggctc tgaagaaaat gttaactgtg agattcgtcc tttaggaaat tataaagtag
     1021 gaaatttgga tataaagatt tattttcctt ttctctaccc atcagatact taggatttta
     1081 tccctgttat tccttagact ctcatacaat gatgcctcat ctcatattca tctcattttg
     1141 aggaattctt tcactgtgtg gaaactctat tttatagtct ttgtccatcc aaaattcttt
     1201 tacaattgtg ttatactaat gtaacatttt tggaagttga taactgttct ctaattttgt
     1261 gaaaaaatat tcttaacctc aggaaatact taatatttag agacaaaaag gtcatgaggt
     1321 gttcaaatga tgagagggaa agagggaggg agatagagag gggcaatgaa acaaactgag
     1381 ttcaatgttg ctgccacaca tgagtatggg taaagggtat ataggtatta attgtactat
     1441 tgttttttaa tgatttttgt gaagttgaaa tcatttacaa ataattaaat accaggcttt
     1501 tctccctttt tgaaaatatt ctcctttctg cttggtggca gtgtgacatc ttagaaatca
     1561 tgctcatttc attatatcta atcattaccg agaaaatcca gtcatcgccc cttctttatt
     1621 gagggctaca tttttctgca tggtccaatt ctgatggcgt ctagtggatt tatctctccg
     1681 aaataattac tgccatgtgg tgtattgagg atgtaggacc acataagtga ctgcagaaaa
     1741 aatatgacac ctgagtggaa ggagttttaa ggaaggttac ctgcccaggg tgattcctga
     1801 gctgagattt caaacatgta acttgttata caaacaagca gagggatggc atcaacattc
     1861 aatccttcat ttatttaaca agcattttgt actattttat aattaaaaat agttaaataa
     1921 gattaaattt tgaatagcac atggctttta ccaaggagtt tgaaaaatac atgtagttgt
     1981 ttatgcaaac aaatgtaaga aaataaataa gctgttttga tactcgtgtg aagggtgcag
     2041 ctcataagga cacactaatt ctatctgtga catctgagtt caaacaagga gctgagagga
     2101 gactccgggg ctcagtgctg aatagtgacg aaaagttacc ctcagatgag tgtgtgatgt
     2161 tggagccagg ggaacttgct gagacacgct gcaagggaaa aggcacagca tgagcaaaga
     2221 cagggctgag caagcgagag agatcaatgc ccagtagatc tttcttattt catgttaggc
     2281 ttatttcttg cccttgtgtg gcccagggtt ttacaaacaa tagtgaaatg atcagatttg
     2341 tattttagaa atgttatttg tgtggtgatc aattggagat gtgcaagacc aaaaacatag
     2401 agaccaggta catgagaatg gtgatctaaa tgatgttgat ctaagtggag tcgaccatgc
     2461 ctttacccga gaataggctg ataggagggc atttgaggtg gggcctgctg aacctgttac
     2521 ctaaaagcat acatgtggta gctgcatgct ataacttcct aattggctat gtacaacttg
     2581 cgaataatca ggtgttttca acagtacaca ttcttctttt ctctcaccac actcaat
//
LOCUS       NM_001004695            4118 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily T member 33
            (OR2T33), mRNA.
ACCESSION   NM_001004695
VERSION     NM_001004695.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4118)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641220.1/ ENSP00000493437.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL450303.10.
            On Jul 30, 2020 this sequence version replaced NM_001004695.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..4118
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..4118
                     /gene="OR2T33"
                     /gene_synonym="OR1-56; OR2T32"
                     /note="olfactory receptor family 2 subfamily T member 33"
                     /db_xref="GeneID:391195"
                     /db_xref="HGNC:HGNC:31255"
     misc_feature    131..133
                     /gene="OR2T33"
                     /gene_synonym="OR1-56; OR2T32"
                     /note="upstream in-frame stop codon"
     CDS             221..1183
                     /gene="OR2T33"
                     /gene_synonym="OR1-56; OR2T32"
                     /note="olfactory receptor OR1-56; novel 7 transmembrane
                     receptor (rhodopsin family) protein"
                     /codon_start=1
                     /product="olfactory receptor 2T33"
                     /protein_id="NP_001004695.1"
                     /db_xref="CCDS:CCDS31109.1"
                     /db_xref="GeneID:391195"
                     /db_xref="HGNC:HGNC:31255"
                     /translation="MEMRNTTPDFILLGLFNHTRAHQVLFMMVLSIVLTSLFGNSLMIL
                     LIHWDHRLHTPMYFLLSQLSLMDMMLVSTTVPKMAADYLTGSKAISRAGCGVQIFFLPT
                     LGGGECFLLAAMAYDRYAAVCHPLRYPTLMSWQLCLRMTMSCWLLGAADGLLQAVVTLS
                     FPYCGAHEIDHFFCETPVLVRLACADTSVFENAMYICCVLMLLVPFSLILSSYGLILAA
                     VLHMRSTEARKKAFATCSSHVAVVGLFYGAAIFTYMRPKSHRSTNHDKVVSAFYTMFTP
                     LLNPLIYSVKNSEVKGALKRWLGTCVNIKHQQNEAHRSR"
     misc_feature    269..271
                     /gene="OR2T33"
                     /gene_synonym="OR1-56; OR2T32"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NG76.1); glycosylation site"
     misc_feature    290..361
                     /gene="OR2T33"
                     /gene_synonym="OR1-56; OR2T32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG76.1);
                     transmembrane region"
     misc_feature    386..451
                     /gene="OR2T33"
                     /gene_synonym="OR1-56; OR2T32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG76.1);
                     transmembrane region"
     misc_feature    515..574
                     /gene="OR2T33"
                     /gene_synonym="OR1-56; OR2T32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG76.1);
                     transmembrane region"
     misc_feature    632..688
                     /gene="OR2T33"
                     /gene_synonym="OR1-56; OR2T32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG76.1);
                     transmembrane region"
     misc_feature    800..871
                     /gene="OR2T33"
                     /gene_synonym="OR1-56; OR2T32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG76.1);
                     transmembrane region"
     misc_feature    923..991
                     /gene="OR2T33"
                     /gene_synonym="OR1-56; OR2T32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG76.1);
                     transmembrane region"
     misc_feature    1031..1090
                     /gene="OR2T33"
                     /gene_synonym="OR1-56; OR2T32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG76.1);
                     transmembrane region"
ORIGIN
        1 tttacctttc caagtggcat agctccaggg aagatatttg gttgttggaa actttcagtg
       61 accacatagg atttttaact aaatagagca tgagaccaga ggcacaaagc agtatccaca
      121 acactaagat taagcaaaca tttgtactca aaccatcaga aagattcagt cccatatata
      181 tgtcacactg gctgtgattc tccactacaa aggggaaatt atggagatga gaaatactac
      241 cccagatttt attctcctag gactctttaa ccacaccaga gcccaccaag tcctcttcat
      301 gatggttctg agtatcgttt tgacctccct gtttggcaat tccctcatga ttctcctgat
      361 tcactgggac caccggctcc acacgcccat gtacttcctc ctgagccaac tttccctcat
      421 ggacatgatg ctggtttcca ccactgtgcc caaaatggcg gctgactact tgaccggaag
      481 taaggccatc tcccgcgctg gctgtggtgt gcagatcttc ttcctcccca cactgggtgg
      541 tggagagtgc ttcctcttag cagccatggc ctatgaccgc tatgcggctg tctgccaccc
      601 actccgatat cccactctca tgagctggca gctgtgcctg aggatgacca tgtcgtgttg
      661 gctcctgggt gcagctgacg ggctcctgca ggctgttgtt accctgagct tcccatattg
      721 tggtgcacac gagatcgatc acttcttctg cgagaccccc gtgctggtgc gtttggcttg
      781 tgctgacact tcagtcttcg aaaacgccat gtacatctgc tgtgtgttaa tgctcctggt
      841 ccccttttcc ctcatcctgt cctcctatgg tctcatcctc gctgctgttc tgcacatgcg
      901 ctctacagaa gcccgcaaga aggcctttgc cacctgctct tcacatgtgg ctgtggtggg
      961 actcttttat ggagctgcca tttttaccta tatgagaccc aaatcccata ggtccactaa
     1021 ccatgacaag gttgtgtcag ccttctatac tatgttcacc cctttactaa accccctcat
     1081 ctacagtgtg aagaacagtg aggtgaaggg agccctgaaa cggtggctgg ggacgtgtgt
     1141 aaacataaaa caccagcaaa atgaggccca caggtcaaga tgatctaatg tcaaatgagt
     1201 ctaagttcct gaatttatta atattttaac acattgttat tctctccctt tagcaattca
     1261 tgcagagaaa attaagtttt tgcattgata taataggata tttttaagaa ttaagtgagc
     1321 taattgtatt gagagatacc atttttagca tttatgtact tttcttcaag tgaagtagta
     1381 tctatggatt actttgtatc ctacaacaac cccatgatat aagtactgtt gacaatatct
     1441 cctactttct aaaaaaagaa attaatgcat ggaaaggtaa atattgttcc caatttcaca
     1501 cagcacggaa ataataagaa gtgactccag agcttgttcc ttaacctgga atagtttatt
     1561 tctgttcaat aatgtatttt gagtgttatt tcataggtgt atgctctaca attaaaaact
     1621 aaatatgagg actccaccaa agaaaaatat tatttttatg ttatatttta aaatatagat
     1681 gcatgacaaa agggaaagtc cacaactcaa atgtaactgc tatattgcca caattttttt
     1741 gtattttttc aacagtctat ttggtgttta aacgtaagcc ttttttaatt tatgtaacct
     1801 ttcatttaag tatttttttt tccagggcct cattgtaatt gaattggaaa attgttttaa
     1861 actacaacta agttctgttt tctacacctg ctttaaggtt accttgactt attgacatac
     1921 ctccatcgat atgaactctg aattgcataa tcatgctgaa tcttgacagt tactaacaat
     1981 gaattatcaa aactgagtaa cactcaacaa ccttatacat tattgtgtca ccaccttact
     2041 tctgccaaga cataggtaat tagaggtatt tctgttgaaa aatttgggac accttctaaa
     2101 gatctggggt ttgcaaaaca aaaaaaaaga agactattct attaataaag acacaagcta
     2161 gatagtgatg gcagaaagct gtggttatca aagccaaatt gtaaccagag actggatatc
     2221 aaatcgtctt agagagtttt atgataaagg ctatatttcc tgtatgtaaa acacacttaa
     2281 gaaataatat aagttttaaa cacacagtgg gacataacta agagcttcca gggacagtgt
     2341 atcttcaata taagtgtctg aaagttaacc tgccatttct ggccatcctg aatttcaaaa
     2401 gggacttgtt ttagaacaaa tgaaaggagt tttctgcttc atctagagct tcaggttcca
     2461 aagcagtaat atatttaaga tagtacctta accagtgcat gcagatcctg agcctatgtc
     2521 tcaagagaag gttattcagt aactcttttc tccttggaag acttgaggat gaaaggagag
     2581 agtgtcatct gtttgatact tttgtttgct actcttgtta attttatctc cttacccagt
     2641 gttagggtga gaaaggagca gaactgcaca aattctgtca tttataccat ctaaaaaaat
     2701 cttctcttag aatgggtgaa atttacacaa gtaaatgtag tcatggaaat ttcattactc
     2761 ataccaggtt cattcaccat cagagaaatt attttagaac atgttgagct aaaaatggta
     2821 aactaagcct ataaaatttt gtaaggataa aatattctaa ccagaaaatt aagcctaata
     2881 tacaggagaa aactaaaaca actagcattt ggcatttgaa tatttttaat tttaaccctt
     2941 ctagtggtgg tatctttatg tcattttaaa atatgccatt acctagagaa taatgaagtt
     3001 cagtgccttc ttagatgctg accagtcatt gatatatgta attttaagaa gagtatcttt
     3061 atatctttgg ccaaaatgtt tttgttttta tttattttac tcagttttaa attttttatt
     3121 tattctggac aaaagtattt tgtcaaacat ctgtactata aatatttttt cctgcttttt
     3181 ggctagcctg tttgttattt taatggtata tttttcagag cagagatttt gatttttgta
     3241 aagtccaata tataattttg ttttctacga ttagtgggtg tttcttatgt attatctcta
     3301 taaaaattat atacttcaag aatgaaagga tggcatctat ttttttaaca tgaaattagc
     3361 attttaatgt gaacaactca gtggcattta ctacattcgc aatgttgtac gaccatcatc
     3421 actaactcca aaacacttcc atcactccaa agtaaaaccc ctcatccatt aagcagtttt
     3481 tctccccatt tcagccccta gcaactgcca atctgcattt ggtctctctg gatttatcta
     3541 ctgtagatat tttatgtaaa cggaatcata aaagatatga gcttttatgt ctggcttctt
     3601 tcactttttc tttaaaatta ttctttaagt tctagggtac atgtgcacaa cgtgcaggtt
     3661 tgttacatat gcatacatgt gtcatgttgg tgtgctgcac tcattaactc atcatttaca
     3721 ttaggtatat ctcctagtgc tatccctccc cgcttccccc accccacaac aggccccggt
     3781 gtgtgatgtt cccctttctg tgtccaagtg ttctcattgt tcaattccca cctatgagtg
     3841 agaacatgct gtgtttggtt ttttgtcctt gcgatagttt gctgagaatg atggtttcca
     3901 gcttcatccg tgtccctaca aaggacgtga actcatcctt ttttatggct gcatagtatt
     3961 ccatggtata tatgtgccac attatcttaa tccagtccat cattgctgga aatttgtgtt
     4021 ggttccaagt ctttgctgtt gtgaatactg cctcaataaa catatgtgtg catgtgtctt
     4081 tatagcagca tgatttataa tccttgggta tataggtg
//
LOCUS       NM_001004696             963 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily T member 4
            (OR2T4), transcript variant 1, coding, mRNA.
ACCESSION   NM_001004696
VERSION     NM_001004696.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 963)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366473.4/ ENSP00000355429.3
            polymorphic pseudogene :: based on alignments, homology
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC138089.2.
            On Nov 17, 2020 this sequence version replaced NM_001004696.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1, coding) represents the
            protein-coding allele encoded by the GRCh38 reference genome.
            Sequence Note: The genomic coordinates were based on alignments.
FEATURES             Location/Qualifiers
     source          1..963
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..963
                     /gene="OR2T4"
                     /gene_synonym="OR1-60; OR2T4Q"
                     /note="olfactory receptor family 2 subfamily T member 4"
                     /db_xref="GeneID:127074"
                     /db_xref="HGNC:HGNC:15016"
     CDS             1..963
                     /gene="OR2T4"
                     /gene_synonym="OR1-60; OR2T4Q"
                     /note="olfactory receptor OR1-60"
                     /codon_start=1
                     /product="olfactory receptor 2T4"
                     /protein_id="NP_001004696.2"
                     /db_xref="CCDS:CCDS31113.2"
                     /db_xref="GeneID:127074"
                     /db_xref="HGNC:HGNC:15016"
                     /translation="MANITWMANHTGWSDFILLGLFRQSKHPALLCVVIFVVFLMALSG
                     NAVLILLIHCDAHLHTPMYFFISQLSLMDMAYISVTVPKMLLDQVMGVNKISAPECGMQ
                     MFFYVTLAGSEFFLLATMAYDRYVAICHPLRYPVLMNHRVCLFLSSGCWFLGSVDGFTF
                     TPITMTFPFRGSREIHHFFCEVPAVLNLSCSDTSLYEIFMYLCCVLMLLIPVVIISSSY
                     LLILLTIHGMNSAEGRKKAFATCSSHLTVVILFYGAAIYTYMLPSSYHTPEKDMMVSVF
                     YTILTPVVNPLIYSLRNKDVMGALKKMLTVEPAFQKAME"
ORIGIN
        1 atggccaata tcacctggat ggccaaccac actggatggt cggatttcat cctgttggga
       61 ctcttcagac aatccaaaca tccagcacta ctttgtgtgg tcatttttgt ggttttcctg
      121 atggcgttgt ctggaaatgc tgtcctgatc cttctgatac actgtgacgc ccacctccac
      181 acccccatgt actttttcat cagtcaattg tctctcatgg acatggcgta catttctgtc
      241 actgtgccca agatgctcct ggaccaggtc atgggtgtga ataagatctc agcccctgag
      301 tgtgggatgc agatgttctt ctacgtgaca ctagcaggtt cagaattttt ccttctagcc
      361 accatggcct atgaccgcta cgtggccatc tgccatcctc tccgttaccc tgtcctcatg
      421 aaccataggg tgtgtctctt cctgtcatca ggctgctggt tcctgggctc agtggatggc
      481 ttcacattca ctcccatcac catgaccttc cccttccgtg gatcccggga gattcatcat
      541 ttcttctgtg aagttcctgc tgtattgaat ctctcctgct cagacacctc actctatgag
      601 attttcatgt acttgtgctg tgtcctcatg ctcctcatcc ctgtggtgat catttcaagc
      661 tcctatttac tcatcctcct caccatccac gggatgaact cagcagaggg ccggaaaaag
      721 gcctttgcca cctgctcctc ccacctgact gtggtcatcc tcttctatgg ggctgccatc
      781 tacacctaca tgctccccag ctcctaccac acccctgaga aggacatgat ggtatctgtc
      841 ttctatacca tcctcactcc agtggtgaac cctttaatct atagtcttag gaataaggat
      901 gtcatggggg ctctgaagaa aatgttaaca gtggaacctg cctttcaaaa agctatggag
      961 tag
//
LOCUS       NM_001004697            2525 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily T member 5
            (OR2T5), mRNA.
ACCESSION   NM_001004697
VERSION     NM_001004697.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2525)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC140915.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000641363.1/ ENSP00000493066.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC138089.2.
            On May 17, 2019 this sequence version replaced NM_001004697.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2525
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..2525
                     /gene="OR2T5"
                     /gene_synonym="OR1-62; OR2T29"
                     /note="olfactory receptor family 2 subfamily T member 5"
                     /db_xref="GeneID:401993"
                     /db_xref="HGNC:HGNC:15017"
     CDS             1..948
                     /gene="OR2T5"
                     /gene_synonym="OR1-62; OR2T29"
                     /note="olfactory receptor OR1-62"
                     /codon_start=1
                     /product="olfactory receptor 2T5"
                     /protein_id="NP_001004697.1"
                     /db_xref="CCDS:CCDS31118.1"
                     /db_xref="GeneID:401993"
                     /db_xref="HGNC:HGNC:15017"
                     /translation="MANITRMANHTGKLDFILMGLFRRSKHPALLSVVIFVVFLKALSG
                     NAVLILLIHCDAHLHSPMYFFISQLSLMDMAYISVTVPKMLLDQVMGVNKVSAPECGMQ
                     MFLYLTLAGSEFFLLATMAYDRYVAICHPLRYPVLMNHRVCLFLASGCWFLGSVDGFML
                     TPITMSFPFCRSWEIHHFFCEVPAVTILSCSDTSLYETLMYLCCVLMLLIPVTIISSSY
                     LLILLTVHRMNSAEGRKKAFATCSSHLTVVILFYGAAVYTYMLPSSYHTPEKDMMVSVF
                     YTILTPVLNPLIYSLRNKDVMGALKKMLTVRFVL"
     misc_feature    7..9
                     /gene="OR2T5"
                     /gene_synonym="OR1-62; OR2T29"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6IEZ7.1); glycosylation site"
     misc_feature    25..27
                     /gene="OR2T5"
                     /gene_synonym="OR1-62; OR2T29"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6IEZ7.1); glycosylation site"
     misc_feature    88..159
                     /gene="OR2T5"
                     /gene_synonym="OR1-62; OR2T29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEZ7.1);
                     transmembrane region"
     misc_feature    184..249
                     /gene="OR2T5"
                     /gene_synonym="OR1-62; OR2T29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEZ7.1);
                     transmembrane region"
     misc_feature    313..372
                     /gene="OR2T5"
                     /gene_synonym="OR1-62; OR2T29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEZ7.1);
                     transmembrane region"
     misc_feature    430..486
                     /gene="OR2T5"
                     /gene_synonym="OR1-62; OR2T29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEZ7.1);
                     transmembrane region"
     misc_feature    598..669
                     /gene="OR2T5"
                     /gene_synonym="OR1-62; OR2T29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEZ7.1);
                     transmembrane region"
     misc_feature    721..789
                     /gene="OR2T5"
                     /gene_synonym="OR1-62; OR2T29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEZ7.1);
                     transmembrane region"
     misc_feature    829..888
                     /gene="OR2T5"
                     /gene_synonym="OR1-62; OR2T29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEZ7.1);
                     transmembrane region"
ORIGIN
        1 atggccaaca tcaccaggat ggccaaccac actggaaagt tggatttcat cctcatggga
       61 ctcttcagac gatccaaaca tccagctcta cttagtgtgg tcatctttgt ggttttcctg
      121 aaggcgttgt ctggaaatgc tgtcctgatc cttctgatac actgtgacgc ccacctccac
      181 agccccatgt actttttcat cagtcaattg tctctcatgg acatggcgta catttctgtc
      241 actgtgccca agatgctcct ggaccaggtc atgggtgtga ataaggtctc agcccctgag
      301 tgtgggatgc agatgttcct ctatctgaca ctagcaggtt cggaattttt ccttctagcc
      361 accatggcct atgaccgcta cgtggccatc tgccatcctc tccgttaccc tgtcctcatg
      421 aaccataggg tctgtctttt cctggcatcg ggctgctggt tcctgggctc agtggatggc
      481 ttcatgctca ctcccatcac catgagcttc cccttctgca gatcctggga gattcatcat
      541 ttcttctgtg aagtccctgc tgtaacgatc ctgtcctgct cagacacctc actctatgag
      601 accctcatgt acctatgctg tgtcctcatg ctcctcatcc ctgtgacgat catttcaagc
      661 tcctatttac tcatcctcct caccgtccac aggatgaact cagcagaggg ccggaaaaag
      721 gcctttgcca cctgctcctc ccacctgact gtggtcatcc tcttctatgg ggctgccgtc
      781 tacacctaca tgctccccag ctcctaccac acccctgaga aggacatgat ggtatctgtc
      841 ttctatacca tcctcactcc ggtgctgaac cctttaatct atagtcttag gaataaggat
      901 gtcatggggg ctctgaagaa aatgttaact gtgagattcg tcctttagga aattataaag
      961 taggaaattt ggatataaag atttattttc cttttctcta cccatcagat acttaggatt
     1021 ttatccctgt tattccttag actctcatac aatgatgcct catctcatat tcatctcatt
     1081 ttgaggaatt ctttcactgt gtggaaactc tattttatag tctttgtcca tccaaaattc
     1141 ttttacaatt gtgttatact aatgtaacat ttttggaagt tgataactgt tctctaattt
     1201 tgtgaaaaaa tattcttaac ctcaggaaat acttaatatt tagagacaaa aaggtcatga
     1261 ggtgttcaaa tgatgagagg gaaagaggga gggagataga gaggggcaat gaaacaaact
     1321 gagttcaatg ttgctgccac acatgagtat gggtaaaggg tatataggta ttaattgtac
     1381 tattgttttt taatgatttt tgtgaagttg aaatcattta caaataatta aataccaggc
     1441 ttttctccct ttttgaaaat attctccttt ctgcttggtg gcagtgtgac atcttagaaa
     1501 tcatgctcat ttcattatat ctaatcatta ccaagaaaat ccagtcatcg ccccttcttt
     1561 attgagggct acatttttct gcatggtcca attctgatgg cgtctagtgg atttatctct
     1621 ccgaaataat tactgccatg tggtgtattg aggatgtagg accacataag tgactgcaga
     1681 aaaaatatga cacctgagtg gaaggagttt taaggaaggt tacctgccca gggtgattcc
     1741 tgagctgaga tttcaaacat gtaacttgtt atacaaacaa gcagagggat ggcatcaaca
     1801 ttcaatcctt catttattta acaagcattt tgtactattt tataattaaa aatagttaaa
     1861 taagattaaa ttttgaatag cacatggctt ttaccaagga gtttgaaaaa tacatgtagt
     1921 tgtttatgca aacaaatgta agaaaataaa taagctgttt tgatactcgt gtgaagggtg
     1981 cagctcataa ggacacacta attctatctg tgacatctga gttcaaacaa ggagctgaga
     2041 ggagactccg gggctcagtg ctgaatagtg acgaaaagtt accctcagat gagtgtgtga
     2101 tgttggagcc aggggaactt gctgagacac gctgcaaggg aaaaggcaca gcatgagcaa
     2161 agacagggct gagcaagcga gagagatcaa tgcccagtag atctttctta tttcatgtta
     2221 ggcttatttc ttgcccttgt gtggcccagg gttttacaaa caatagtgaa atgatcagat
     2281 ttgtatttta gaaatgttat ttgtgtggtg atcaattgga gatgtgcaag accaaaaaca
     2341 tagagaccag gtacatgaga atggtaatct aaatgatgtt gatctaagtg gagtcgacca
     2401 tgcctttacc cgagaatagg ctgataggag ggcatttgag gtggggcctg ctgaacctgt
     2461 tacctaaaag catacatgtg gtagctgcat gctataactt cctaattggc tatgtacaac
     2521 ttgcg
//
LOCUS       NM_001004699            1755 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily Z member 1
            (OR2Z1), mRNA.
ACCESSION   NM_001004699
VERSION     NM_001004699.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1755)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 1755)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641125.1/ ENSP00000493322.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC243312.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 8, 2021 this sequence version replaced NM_001004699.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1755
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..1755
                     /gene="OR2Z1"
                     /gene_synonym="OR19-4; OR2Z2"
                     /note="olfactory receptor family 2 subfamily Z member 1"
                     /db_xref="GeneID:284383"
                     /db_xref="HGNC:HGNC:15391"
     misc_feature    618..620
                     /gene="OR2Z1"
                     /gene_synonym="OR19-4; OR2Z2"
                     /note="upstream in-frame stop codon"
     CDS             624..1568
                     /gene="OR2Z1"
                     /gene_synonym="OR19-4; OR2Z2"
                     /note="olfactory receptor, family 2, subfamily Z, member 2;
                     olfactory receptor OR19-4; olfactory receptor 2Z2"
                     /codon_start=1
                     /product="olfactory receptor 2Z1"
                     /protein_id="NP_001004699.1"
                     /db_xref="CCDS:CCDS32895.1"
                     /db_xref="GeneID:284383"
                     /db_xref="HGNC:HGNC:15391"
                     /translation="MGDVNQSVASDFILVGLFSHSGSRQLLFSLVAVMFVIGLLGNTVL
                     LFLIRVDSRLHTPMYFLLSQLSLFDIGCPMVTIPKMASDFLRGEGATSYGGGAAQIFFL
                     TLMGVAEGVLLVLMSYDRYVAVCQPLQYPVLMRRQVCLLMMGSSWVVGVLNASIQTSIT
                     LHFPYCASRIVDHFFCEVPALLKLSCADTCAYEMALSTSGVLILMLPLSLIATSYGHVL
                     QAVLSMRSEEARHKAVTTCSSHITVVGLFYGAAVFMYMVPCAYHSPQQDNVVSLFYSLV
                     TPTLNPLIYSLRNPEVWMALVKVLSRAGLRQMC"
     misc_feature    636..638
                     /gene="OR2Z1"
                     /gene_synonym="OR19-4; OR2Z2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NG97.1); glycosylation site"
     misc_feature    699..770
                     /gene="OR2Z1"
                     /gene_synonym="OR19-4; OR2Z2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG97.1);
                     transmembrane region"
     misc_feature    795..860
                     /gene="OR2Z1"
                     /gene_synonym="OR19-4; OR2Z2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG97.1);
                     transmembrane region"
     misc_feature    924..983
                     /gene="OR2Z1"
                     /gene_synonym="OR19-4; OR2Z2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG97.1);
                     transmembrane region"
     misc_feature    1041..1097
                     /gene="OR2Z1"
                     /gene_synonym="OR19-4; OR2Z2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG97.1);
                     transmembrane region"
     misc_feature    1209..1280
                     /gene="OR2Z1"
                     /gene_synonym="OR19-4; OR2Z2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG97.1);
                     transmembrane region"
     misc_feature    1332..1400
                     /gene="OR2Z1"
                     /gene_synonym="OR19-4; OR2Z2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG97.1);
                     transmembrane region"
     misc_feature    1440..1499
                     /gene="OR2Z1"
                     /gene_synonym="OR19-4; OR2Z2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG97.1);
                     transmembrane region"
ORIGIN
        1 tgccaacctg cacgctggat gcatcttacc ttgtctgtta ttgctgctgt gaatccaagc
       61 aggctggacc tctagatagc agaaggtcac ccatgttgac gttcattcca aaccttccat
      121 aaaatgtgct ggaagcagca aggggtgggc acctcacctt ggccatgggg ccgggactag
      181 aacaacccat ctggcatggg ctggaagcac cttcagctca ctttctggag actgtgacca
      241 tcctacaaca gtgatgctct ggaggaattc tcagctcaga attccaggga agatgagttg
      301 agtgttaagt ccaagaaaga gacagtgtcc agaatagaga cagctcagga tctgaaatca
      361 aactgggttc aaatcccagt ctaccctctt cttagctgtg tgactttaga tgcatcaaag
      421 acagtgggac cacctgggca ccctgaaagg aaagcctact gattctagct gcagcctcat
      481 tactcttctc aagacaccat cccaggaagc cactaccaat caatgatgat tggcatgtga
      541 gatgaaaatt atttgccacc ccatgcaggc ttcttgccat agttcagctg ttcttcctgc
      601 agctaaagtg cattgtgtaa aacatggggg atgtgaatca gtcggtggcc tcagacttca
      661 ttctggtggg cctcttcagt cactcaggat cacgccagct cctcttctcc ctggtggctg
      721 tcatgtttgt cataggcctt ctgggcaaca ccgttcttct cttcttgatc cgtgtggact
      781 cccggctcca cacacccatg tacttcctgc tcagccagct ctccctgttt gacattggct
      841 gtcccatggt caccatcccc aagatggcat cagactttct gcggggagaa ggtgccacct
      901 cctatggagg tggtgcagct caaatattct tcctcacact gatgggtgtg gctgagggcg
      961 tcctgttggt cctcatgtct tatgaccgtt atgttgctgt gtgccagccc ctgcagtatc
     1021 ctgtacttat gagacgccag gtatgtctgc tgatgatggg ctcctcctgg gtggtaggtg
     1081 tgctcaacgc ctccatccag acctccatca ccctgcattt tccctactgt gcctcccgta
     1141 ttgtggatca cttcttctgt gaggtgccag ccctactgaa gctctcctgt gcagatacct
     1201 gtgcctacga gatggcgctg tccacctcag gggtgctgat cctaatgctc cctctttccc
     1261 tcatcgccac ctcctacggc cacgtgttgc aggctgttct aagcatgcgc tcagaggagg
     1321 ccagacacaa ggctgtcacc acctgctcct cgcacatcac ggtagtgggg ctcttttatg
     1381 gtgccgccgt gttcatgtac atggtgcctt gcgcctacca cagtccacag caggataacg
     1441 tggtttccct cttctatagc cttgtcaccc ctacactcaa cccccttatc tacagtctga
     1501 ggaatccgga ggtgtggatg gctttggtca aagtgcttag cagagctgga ctcaggcaaa
     1561 tgtgctgact acatagaaac tgctggtgag attccagcgg tcctcgatcc cacccacctt
     1621 cccaaagtat gcatttggca ttcaattgcc aatttgtgca actggccaaa tatccagcca
     1681 ttgcccaagg tgcaactttt tgagaaaatg tctgcctttt aaattgaggt agaatacacg
     1741 taacataaaa tgagc
//
LOCUS       NM_001004700            2737 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily C member 11
            (OR4C11), mRNA.
ACCESSION   NM_001004700
VERSION     NM_001004700.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2737)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641580.1/ ENSP00000492971.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP006437.2.
            On Aug 21, 2020 this sequence version replaced NM_001004700.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2737
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q11"
     gene            1..2737
                     /gene="OR4C11"
                     /gene_synonym="OR11-136; OR4C11P"
                     /note="olfactory receptor family 4 subfamily C member 11"
                     /db_xref="GeneID:219429"
                     /db_xref="HGNC:HGNC:15167"
     misc_feature    682..684
                     /gene="OR4C11"
                     /gene_synonym="OR11-136; OR4C11P"
                     /note="upstream in-frame stop codon"
     CDS             724..1656
                     /gene="OR4C11"
                     /gene_synonym="OR11-136; OR4C11P"
                     /note="olfactory receptor, family 4, subfamily C, member 11
                     pseudogene; olfactory receptor OR11-136"
                     /codon_start=1
                     /product="olfactory receptor 4C11"
                     /protein_id="NP_001004700.2"
                     /db_xref="CCDS:CCDS31503.1"
                     /db_xref="GeneID:219429"
                     /db_xref="HGNC:HGNC:15167"
                     /translation="MQQNNSVPEFILLGLTQDPLRQKIVFVIFLIFYMGTVVGNMLIIV
                     TIKSSRTLGSPMYFFLFYLSFADSCFSTSTAPRLIVDALSEKKIITYNECMTQVFALHL
                     FGCMEIFVLILMAVDRYVAICKPLRYPTIMSQQVCIILIVLAWIGSLIHSTAQIILALR
                     LPFCGPYLIDHYCCDLQPLLKLACMDTYMINLLLVSNSGAICSSSFMILIISYIVILHS
                     LRNHSAKGKKKALSACTSHIIVVILFFGPCIFIYTRPPTTFPMDKMVAVFYTIGTPFLN
                     PLIYTLRNAEVKNAMRKLWHGKIISENKG"
     misc_feature    733..735
                     /gene="OR4C11"
                     /gene_synonym="OR11-136; OR4C11P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6IEV9.1); glycosylation site"
     misc_feature    793..864
                     /gene="OR4C11"
                     /gene_synonym="OR11-136; OR4C11P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEV9.1);
                     transmembrane region"
     misc_feature    889..954
                     /gene="OR4C11"
                     /gene_synonym="OR11-136; OR4C11P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEV9.1);
                     transmembrane region"
     misc_feature    1018..1077
                     /gene="OR4C11"
                     /gene_synonym="OR11-136; OR4C11P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEV9.1);
                     transmembrane region"
     misc_feature    1135..1191
                     /gene="OR4C11"
                     /gene_synonym="OR11-136; OR4C11P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEV9.1);
                     transmembrane region"
     misc_feature    1303..1374
                     /gene="OR4C11"
                     /gene_synonym="OR11-136; OR4C11P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEV9.1);
                     transmembrane region"
     misc_feature    1423..1491
                     /gene="OR4C11"
                     /gene_synonym="OR11-136; OR4C11P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEV9.1);
                     transmembrane region"
     misc_feature    1525..1584
                     /gene="OR4C11"
                     /gene_synonym="OR11-136; OR4C11P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEV9.1);
                     transmembrane region"
ORIGIN
        1 accaaagaga gcctcgtatc agaatagtta tatattaatt tataagcact tttaaaattc
       61 tcatttgaat aagtagcctc caaattatat tgggaagaaa agagggcaat tgaacatcct
      121 aatatagcat actctcttat caaagctggt aaggtctgta taggagaata acttagtcgt
      181 atctaacatt cagagaaggt ggatctgatc aatacaacag ccaggaacta acatatacaa
      241 gacactggtg ggaggtgggg aaattcaagg acttttctag aagtgcttta caatctaaag
      301 tgaaaagatg gaaataaaaa tcatgcacag aatttcttga tggaaatggg cactaccaga
      361 gccctgagtt tcaacactac tgctatatct gacttactca aatttgtgag gcttaatgta
      421 gccctaagaa taccactaga attcctgtct acaacaagac agttgtgatg gctcagggat
      481 atgccatcac aaggtgaata acaacccatc tcccaagcct cagtgtctac ttgtctctta
      541 agaaaacttt atgaagaacc cagaaaaata aggaaagatg gacgaattta actttggaca
      601 acacagtata acaaagcagt acaaagttga ataataaagg atgaatttgg aactgaaaat
      661 aattagaaaa ttttcagaga ttaactagtt ctaatctgtg gtttcttcac atcaactgaa
      721 acaatgcagc aaaataacag tgtgcctgaa ttcatactgt taggattaac acaggatccc
      781 ttgaggcaga aaatagtgtt tgtaatcttc ttaattttct atatgggaac tgtggtgggg
      841 aatatgctca ttattgtgac catcaagtcc agccggacac taggaagccc catgtacttc
      901 tttctatttt atttgtcctt tgcagattct tgcttttcaa cttccacagc ccctagatta
      961 attgtggatg ctctctctga aaagaaaatt ataacctaca atgagtgcat gacacaagtc
     1021 tttgcactac atttatttgg ctgcatggag atctttgtcc tcattctcat ggctgttgat
     1081 cgctatgtgg ccatctgtaa gcccttgcgt tacccaacca tcatgagcca gcaggtctgc
     1141 atcatcctga ttgttcttgc ctggataggg tctttaatac actctacagc tcagattatc
     1201 ctggccttaa gattgccttt ctgtggaccc tatttgattg atcattattg ctgtgatttg
     1261 cagcccttgt tgaaacttgc ctgcatggac acttacatga tcaacctgct gttggtgtct
     1321 aacagtgggg caatttgctc aagtagtttc atgattttga taatttcata tattgtcatc
     1381 ttgcattcac tgagaaacca cagtgccaaa gggaagaaaa aggctctctc cgcttgcacg
     1441 tctcacataa ttgtagtcat cttattcttt ggcccatgta tattcatata tacacgcccc
     1501 ccgaccactt tccccatgga caagatggtg gcagtatttt atactattgg aacacccttt
     1561 ctcaatccac tcatctacac actgaggaat gcagaagtga aaaatgccat gagaaagtta
     1621 tggcatggca aaattatttc agaaaacaaa ggataaattg agggcctgac ctgattactt
     1681 tttcagtcaa atcatgattt aacagagtaa gtatagacag caaataggaa agtacctgaa
     1741 tgctgtggga ataatatatc atcgtatcta agtttgtggg ttcctatgtt ttctagttaa
     1801 caggagttgt gactaccaag acattgtctt ttgtgccaga actaggtaga atatagatta
     1861 attcaggtga ttacctacca gtagtctttt cttttcagat tatcttcctt tccagccatg
     1921 cattttctaa agtgtaagcc tgactatctc tatgcactct aatctaatgc atctgatttt
     1981 cttacttctt tcctgtgctt ttgaccacag actgataaac tccctgaaat cttcaatttg
     2041 gctcttcctt ttcctaagag cccaattctg ccattgctgg ttgtgaacta cacatcacaa
     2101 ctctgtctac actctggttt aataaaaaga aagacattta tacaatcaca agtgttcaaa
     2161 tttgtgagca ccaacaaaga aatgtcaaat tccttcccta atgcatttgc aataaggtat
     2221 caagcttcct cctgaacact tctagggaaa aggaactaac tcagtatatc aagatgccca
     2281 tttacatttt atcactactt tgtatttaaa aagttctgta tttttgagtc agaggctaat
     2341 atactggaga tacaacatat ttcctgagcc tgaagtgcag aagggtagaa catggttgaa
     2401 accaaaaatg gtatgatcta ttgtgtttaa agttgggtga tgtcaatgaa ataaataaaa
     2461 ttatcacagg aattcagaaa acactcagga cacttgtctc tagtgggttc tccctaaaca
     2521 gggaacccac tactgctata ggaagttaca tctctattta ttctgtccta ataattgggg
     2581 ctgcatagaa tcacaagtta gaattggcaa tggaattttc atgcccagag tgaggacagc
     2641 agataaaaag cggcacttta gatattcata ttatggactt ttaatattca tctgtttcag
     2701 tgtaataagt gtaccacatc tttaataact gttgaca
//
LOCUS       NM_001004701             933 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily C member 16
            (OR4C16), mRNA.
ACCESSION   NM_001004701
VERSION     NM_001004701.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 933)
  AUTHORS   Ryu CS, Sakong JH, Ahn EH, Kim JO, Ko D, Kim JH, Lee WS and Kim NK.
  TITLE     Association study of the three functional polymorphisms (TAS2R46G>A,
            OR4C16G>A, and OR4X1A>T) with recurrent pregnancy loss
  JOURNAL   Genes Genomics 41 (1), 61-70 (2019)
   PUBMED   30203366
  REMARK    GeneRIF: OR4C16G>A polymorphism was associated with idiopathic
            recurrent pregnancy loss in Korean women.
REFERENCE   2  (bases 1 to 933)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 933)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 933)
  AUTHORS   Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd
            C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E,
            Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K,
            Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC,
            Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES and
            Sakaki Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
REFERENCE   5  (bases 1 to 933)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000623907.1/ ENSP00000485295.1
            polymorphic pseudogene :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001998.4.
            On Oct 24, 2006 this sequence version replaced NM_001004701.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be non-functional as an olfactory receptor
            according to the Classifier for Olfactory Receptor Pseudogenes.
FEATURES             Location/Qualifiers
     source          1..933
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q11"
     gene            1..933
                     /gene="OR4C16"
                     /gene_synonym="OR11-135"
                     /note="olfactory receptor family 4 subfamily C member 16"
                     /db_xref="GeneID:219428"
                     /db_xref="HGNC:HGNC:15172"
     CDS             1..933
                     /gene="OR4C16"
                     /gene_synonym="OR11-135"
                     /note="olfactory receptor OR11-135"
                     /codon_start=1
                     /product="olfactory receptor 4C16"
                     /protein_id="NP_001004701.2"
                     /db_xref="GeneID:219428"
                     /db_xref="HGNC:HGNC:15172"
                     /translation="MQLNNNVTEFILLGLTQDPFWKKIVFVIFLRLYLGTLLGNLLIII
                     SVKTSQALKNPMFFFLFYLSLSDTCLSTSITPRMIVDALLKKTTISFSECMIQVFSSHV
                     FGCLEIFILILTAVDRYVDICKPLHYMTIISQWVCGVLMAVAWVGSCVHSLVQIFLALS
                     LPFCGPNVINHCFCDLQPLLKQACSETYVVNLLLVSNSGAICAVSYVMLIFSYVIFLHS
                     LRNHSAEVIKKALSTCVSHIIVVILFFGPCIFMYTCLATVFPMDKMIAVFYTVGTSFLN
                     PVIYTLKNTEVKSAMRKLWSKKLITDDKR"
     misc_feature    16..18
                     /gene="OR4C16"
                     /gene_synonym="OR11-135"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGL9.2); glycosylation site"
     misc_feature    70..141
                     /gene="OR4C16"
                     /gene_synonym="OR11-135"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL9.2);
                     transmembrane region"
     misc_feature    166..231
                     /gene="OR4C16"
                     /gene_synonym="OR11-135"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL9.2);
                     transmembrane region"
     misc_feature    295..354
                     /gene="OR4C16"
                     /gene_synonym="OR11-135"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL9.2);
                     transmembrane region"
     misc_feature    412..468
                     /gene="OR4C16"
                     /gene_synonym="OR11-135"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL9.2);
                     transmembrane region"
     misc_feature    580..651
                     /gene="OR4C16"
                     /gene_synonym="OR11-135"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL9.2);
                     transmembrane region"
     misc_feature    700..768
                     /gene="OR4C16"
                     /gene_synonym="OR11-135"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL9.2);
                     transmembrane region"
     misc_feature    802..861
                     /gene="OR4C16"
                     /gene_synonym="OR11-135"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL9.2);
                     transmembrane region"
ORIGIN
        1 atgcaactga ataataatgt gactgagttc attctgcttg gattgacaca ggatcctttt
       61 tggaagaaaa tagtgtttgt tatttttttg cgtctctact tgggaacact gttgggtaat
      121 ttgctaatca ttattagtgt caagaccagc caggcactta agaacccaat gttcttcttc
      181 cttttctact tatccttatc tgatacttgc ctctctactt ccataacccc tagaatgatt
      241 gtggatgccc ttttgaagaa gacaactatc tccttcagcg agtgcatgat ccaagtcttt
      301 tcatcccatg tctttggctg cctggagatc ttcatcctca tcctcacggc tgttgaccgc
      361 tatgtggaca tctgtaagcc cctgcactac atgaccatca taagccagtg ggtctgtggt
      421 gttttgatgg ctgtggcctg ggtgggatcc tgtgtgcatt ctttagttca gatttttctt
      481 gccctgagtt tgccattctg tggccccaat gtgatcaatc actgtttctg tgacttgcag
      541 cccttgttga aacaagcctg ttcagaaacc tatgtggtta acctactcct ggtttccaat
      601 agtggggcca tttgtgcagt gagttatgtc atgctaatat tctcctatgt catcttcttg
      661 cattctctga gaaaccacag tgctgaagtg ataaagaaag cactttccac atgtgtctcc
      721 cacatcattg tggtcatctt gttctttgga ccttgcatat ttatgtacac atgccttgca
      781 accgtattcc ccatggataa gatgatagct gtattttata cagttggaac atcttttctc
      841 aaccctgtga tttacacgct gaagaataca gaagtgaaaa gtgccatgag gaagctttgg
      901 agcaagaaat tgatcacaga tgacaaaaga taa
//
LOCUS       NM_001004702            1036 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily C member 3
            (OR4C3), mRNA.
ACCESSION   NM_001004702
VERSION     NM_001004702.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1036)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless         :: BC136854.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000319856.5/ ENSP00000321419.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC136853.1.
            On Nov 7, 2018 this sequence version replaced NM_001004702.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1036
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..1036
                     /gene="OR4C3"
                     /gene_synonym="OR11-98"
                     /note="olfactory receptor family 4 subfamily C member 3"
                     /db_xref="GeneID:256144"
                     /db_xref="HGNC:HGNC:14697"
     misc_feature    22..24
                     /gene="OR4C3"
                     /gene_synonym="OR11-98"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MQLVLLLMFLLVFIGNTAPAFSVTLES"
     misc_feature    43..45
                     /gene="OR4C3"
                     /gene_synonym="OR11-98"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MFLLVFIGNTAPAFSVTLES"
     CDS             103..1011
                     /gene="OR4C3"
                     /gene_synonym="OR11-98"
                     /note="olfactory receptor OR11-98"
                     /codon_start=1
                     /product="olfactory receptor 4C3"
                     /protein_id="NP_001004702.2"
                     /db_xref="CCDS:CCDS31489.2"
                     /db_xref="GeneID:256144"
                     /db_xref="HGNC:HGNC:14697"
                     /translation="MDIPQNITEFFMLGLSQNSEVQRVLFVVFLLIYVVTVCGNMLIVV
                     TITSSPTLASPVYFFLANLSFIDTFYSSSMAPKLIADSLYEGRTISYECCMAQLFGAHF
                     LGGVEIILLTVMAYDRYVAICKPLHNTTIMTRHLCAMLVGVAWLGGFLHSLVQLLLVLW
                     LPFCGPNVINHFACDLYPLLEVACTNTYVIGLLVVANSGLICLLNFLMLAASYIVILYS
                     LRSHSADGRCKALSTCGAHFIVVALFFVPCIFTYVHPFSTLPIDKNMALFYGILTPMLN
                     PLIYTLRNEEVKNAMRKLFTW"
     misc_feature    118..120
                     /gene="OR4C3"
                     /gene_synonym="OR11-98"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH37.2); glycosylation site"
     misc_feature    172..243
                     /gene="OR4C3"
                     /gene_synonym="OR11-98"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH37.2);
                     transmembrane region"
     misc_feature    268..333
                     /gene="OR4C3"
                     /gene_synonym="OR11-98"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH37.2);
                     transmembrane region"
     misc_feature    397..456
                     /gene="OR4C3"
                     /gene_synonym="OR11-98"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH37.2);
                     transmembrane region"
     misc_feature    514..570
                     /gene="OR4C3"
                     /gene_synonym="OR11-98"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH37.2);
                     transmembrane region"
     misc_feature    682..753
                     /gene="OR4C3"
                     /gene_synonym="OR11-98"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH37.2);
                     transmembrane region"
     misc_feature    802..870
                     /gene="OR4C3"
                     /gene_synonym="OR11-98"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH37.2);
                     transmembrane region"
     misc_feature    904..963
                     /gene="OR4C3"
                     /gene_synonym="OR11-98"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH37.2);
                     transmembrane region"
ORIGIN
        1 aacttgcaat gtttttcccc catgcaatta gttctattac ttatgtttct ccttgtcttt
       61 ataggcaata ctgcacctgc attctcagtg accttggaat ctatggacat accacaaaat
      121 atcacagaat ttttcatgct ggggctctca cagaactcag aggtacagag agttctcttt
      181 gtggtctttt tgctgatcta tgtggtcacg gtttgtggca acatgctcat tgtggtcact
      241 atcacctcca gccccacgct ggcttcccct gtgtattttt tcctggccaa cctatccttt
      301 attgacacct tttattcttc ttctatggct cctaaactca ttgctgactc attgtatgag
      361 gggagaacca tctcttatga gtgctgcatg gctcagctct ttggagctca ttttttggga
      421 ggtgttgaga tcattctgct cacagtgatg gcttatgacc gctatgtggc catctgtaag
      481 cccctgcaca atactaccat catgaccagg catctctgtg ccatgcttgt aggggtggct
      541 tggcttgggg gcttcctgca ttcattggtt cagctcctcc tggtcctttg gttgcccttc
      601 tgtgggccca atgtgatcaa tcactttgcc tgtgacttgt accctttgct ggaagttgcc
      661 tgcaccaata cgtatgtcat tggtctgctg gtggttgcca acagtggttt aatctgcctg
      721 ttgaacttcc tcatgctggc tgcctcctac attgtcatcc tgtactcctt gaggtcccac
      781 agtgcagatg ggagatgcaa agccctctcc acctgtggag cccacttcat tgttgttgcc
      841 ttgttctttg tgccctgtat atttacttat gtgcatccat tttctacttt acctatagac
      901 aaaaatatgg cattatttta tggtattctg acacctatgt tgaatccact catttatacc
      961 ctgagaaatg aagaggtaaa aaatgccatg agaaagctct ttacatggta agaaattgca
     1021 ggtggaaaat gagtgg
//
LOCUS       NM_001004703             930 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily C member 46
            (OR4C46), mRNA.
ACCESSION   NM_001004703
VERSION     NM_001004703.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 930)
  AUTHORS   Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni
            S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS,
            Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R,
            Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K,
            Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkila K,
            Hypponen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen
            M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikainen LP, Magnusson
            PKE, Mangino M, Mihailov E, Montasser ME, Muller-Nurasyid M, Nolte
            IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena
            R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ,
            Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik EG,
            Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher D,
            Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL, Brambilla P,
            Burnett MS, Cesana G, Dimitriou M, Doney ASF, Doring A, Elliott P,
            Epstein SE, Ingi Eyjolfsson G, Gigante B, Goodarzi MO, Grallert H,
            Gravito ML, Groves CJ, Hallmans G, Hartikainen AL, Hayward C,
            Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones MR, Kaleebu
            P, Kastelein JJP, Khaw KT, Kim E, Klopp N, Komulainen P, Kumari M,
            Langenberg C, Lehtimaki T, Lin SY, Lindstrom J, Loos RJF, Mach F,
            McArdle WL, Meisinger C, Mitchell BD, Muller G, Nagaraja R, Narisu
            N, Nieminen TVM, Nsubuga RN, Olafsson I, Ong KK, Palotie A,
            Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP, Ridker PM,
            Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl H, Seeley J,
            Silander K, Stancakova A, Stirrups K, Swift AJ, Tiret L,
            Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga C,
            Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH,
            Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud M,
            Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier M,
            Campbell H, Chakravarti A, Chambers JC, Chen YI, Collins FS, Cooper
            RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrieres J,
            Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V, Gyllensten
            U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN, Hofman A,
            Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K, Iribarren C,
            Jarvelin MR, Jula A, Kahonen M, Kaprio J, Kesaniemi A, Kivimaki M,
            Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J, Kyvik KO,
            Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, Marz W, McCarthy
            MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L, Morris AD,
            Munroe PB, Njolstad I, Pedersen NL, Power C, Pramstaller PP, Price
            JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D, Salomaa V,
            Sanghera DK, Saramies J, Schwarz PEH, Sheu WH, Shuldiner AR,
            Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO, Tremoli
            E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P, Wallentin
            L, Wareham NJ, Whitfield JB, Wolffenbuttel BHR, Ordovas JM,
            Boerwinkle E, Palmer CNA, Thorsteinsdottir U, Chasman DI, Rotter JI,
            Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS, Boehnke M,
            Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E and Abecasis GR.
  CONSRTM   Global Lipids Genetics Consortium
  TITLE     Discovery and refinement of loci associated with lipid levels
  JOURNAL   Nat Genet 45 (11), 1274-1283 (2013)
   PUBMED   24097068
REFERENCE   2  (bases 1 to 930)
  AUTHORS   Xu B, Roos JL, Dexheimer P, Boone B, Plummer B, Levy S, Gogos JA and
            Karayiorgou M.
  TITLE     Exome sequencing supports a de novo mutational paradigm for
            schizophrenia
  JOURNAL   Nat Genet 43 (9), 864-868 (2011)
   PUBMED   21822266
  REMARK    Publication Status: Online-Only
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328188.1/ ENSP00000329056.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC126345.11.
            On Sep 22, 2004 this sequence version replaced XM_061656.8.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..930
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q11"
     gene            1..930
                     /gene="OR4C46"
                     /note="olfactory receptor family 4 subfamily C member 46"
                     /db_xref="GeneID:119749"
                     /db_xref="HGNC:HGNC:31271"
                     /db_xref="MIM:614273"
     CDS             1..930
                     /gene="OR4C46"
                     /codon_start=1
                     /product="olfactory receptor 4C46"
                     /protein_id="NP_001004703.1"
                     /db_xref="CCDS:CCDS73288.1"
                     /db_xref="GeneID:119749"
                     /db_xref="HGNC:HGNC:31271"
                     /db_xref="MIM:614273"
                     /translation="MENRNNMTEFVLLGLTENPKMQKIIFVVFFVIYIITVVGYVLIVV
                     TITASPSLGSPMYLSLAYLSFIDACYSSVNTPNLITHSLYGKKAILFNGCMTQVFGEHF
                     FGGAEGILLTVMAYDHYVAICKPLHYMTIMNQCVCALLMGVVWMGGFLHATIQILFIFQ
                     LPFCGPNVIDHFMCDLNPLLNLACTDTHMLELFIAANSGFICLLNFALLLVSYVVILCS
                     LRTHSLEARHKALSTCVSHITVVILFFVPCIFVYMRPAATLPIDKAVAIFYTMITPMLN
                     PLIYTLKNAQMKNAIRKLCSRKDISGDK"
     misc_feature    16..18
                     /gene="OR4C46"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NHA9.1); glycosylation site"
     misc_feature    70..132
                     /gene="OR4C46"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NHA9.1);
                     transmembrane region"
     misc_feature    139..201
                     /gene="OR4C46"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NHA9.1);
                     transmembrane region"
     misc_feature    310..372
                     /gene="OR4C46"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NHA9.1);
                     transmembrane region"
     misc_feature    424..486
                     /gene="OR4C46"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NHA9.1);
                     transmembrane region"
     misc_feature    607..669
                     /gene="OR4C46"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NHA9.1);
                     transmembrane region"
     misc_feature    709..771
                     /gene="OR4C46"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NHA9.1);
                     transmembrane region"
     misc_feature    799..861
                     /gene="OR4C46"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NHA9.1);
                     transmembrane region"
ORIGIN
        1 atggagaata ggaataacat gacagagttt gttttgctgg ggcttacaga gaatccaaag
       61 atgcagaaaa tcatatttgt tgtgtttttt gtcatctata tcatcactgt ggtgggatat
      121 gtgctcattg tggtcaccat cactgccagc ccatcactgg ggtcccccat gtacctttcc
      181 ctggcctatc tctcctttat tgatgcctgc tattcctctg tcaatacccc taacctgatc
      241 acacattcac tctatggaaa gaaggccatc ctattcaatg gatgcatgac tcaagtcttt
      301 ggagaacatt tcttcggagg tgcagagggc atcctactta ctgtgatggc ctatgaccac
      361 tatgtggcca tctgcaagcc cttgcactat atgactatca tgaaccagtg tgtgtgtgcc
      421 ctgctaatgg gagtggtgtg gatgggaggc tttcttcatg caaccataca gatcctcttc
      481 atcttccaat tacctttctg tggtcctaat gtcatagatc actttatgtg tgatctgaac
      541 cctttgctca acctcgcctg cactgacacc catatgctgg aactcttcat tgctgccaac
      601 agtggattca tctgcttgtt aaactttgcc ctcctgctgg tctcctatgt ggtcatcttg
      661 tgctccctaa ggactcatag cttggaggca aggcacaaag ccctctccac ctgtgtctcc
      721 cacatcacgg ttgtcatctt attctttgtg ccctgcatat ttgtgtacat gagacctgca
      781 gctactttac ctattgataa agcagttgct atattctaca ctatgataac tcctatgtta
      841 aaccccttaa tctatacctt gaagaatgcc cagatgaaaa atgccatcag gaaattgtgt
      901 agtagaaagg acatttcagg tgacaaataa
//
LOCUS       NM_001004704            1020 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily C member 6
            (OR4C6), mRNA.
ACCESSION   NM_001004704
VERSION     NM_001004704.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1020)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.339616.1,
            SRR18074968.1133625.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148874,
            SAMEA2155628 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000314259.5/ ENSP00000324769.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP006437.2.
            On Aug 5, 2020 this sequence version replaced NM_001004704.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1020
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q11"
     gene            1..1020
                     /gene="OR4C6"
                     /gene_synonym="OR11-138"
                     /note="olfactory receptor family 4 subfamily C member 6"
                     /db_xref="GeneID:219432"
                     /db_xref="HGNC:HGNC:14743"
     misc_feature    85..87
                     /gene="OR4C6"
                     /gene_synonym="OR11-138"
                     /note="upstream in-frame stop codon"
     CDS             91..1020
                     /gene="OR4C6"
                     /gene_synonym="OR11-138"
                     /note="olfactory receptor OR11-138"
                     /codon_start=1
                     /product="olfactory receptor 4C6"
                     /protein_id="NP_001004704.1"
                     /db_xref="CCDS:CCDS31506.1"
                     /db_xref="GeneID:219432"
                     /db_xref="HGNC:HGNC:14743"
                     /translation="MENQNNVTEFILLGLTENLELWKIFSAVFLVMYVATVLENLLIVV
                     TIITSQSLRSPMYFFLTFLSLLDVMFSSVVAPKVIVDTLSKSTTISLKGCLTQLFVEHF
                     FGGVGIILLTVMAYDRYVAICKPLHYTIIMSPRVCCLMVGGAWVGGFMHAMIQLLFMYQ
                     IPFCGPNIIDHFICDLFQLLTLACTDTHILGLLVTLNSGMMCVAIFLILIASYTVILCS
                     LKSYSSKGRHKALSTCSSHLTVVVLFFVPCIFLYMRPVVTHPIDKAMAVSDSIITPMLN
                     PLIYTLRNAEVKSAMKKLWMKWEALAGK"
     misc_feature    106..108
                     /gene="OR4C6"
                     /gene_synonym="OR11-138"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH72.1); glycosylation site"
     misc_feature    160..231
                     /gene="OR4C6"
                     /gene_synonym="OR11-138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH72.1);
                     transmembrane region"
     misc_feature    256..321
                     /gene="OR4C6"
                     /gene_synonym="OR11-138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH72.1);
                     transmembrane region"
     misc_feature    385..444
                     /gene="OR4C6"
                     /gene_synonym="OR11-138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH72.1);
                     transmembrane region"
     misc_feature    502..558
                     /gene="OR4C6"
                     /gene_synonym="OR11-138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH72.1);
                     transmembrane region"
     misc_feature    670..741
                     /gene="OR4C6"
                     /gene_synonym="OR11-138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH72.1);
                     transmembrane region"
     misc_feature    790..858
                     /gene="OR4C6"
                     /gene_synonym="OR11-138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH72.1);
                     transmembrane region"
     misc_feature    892..951
                     /gene="OR4C6"
                     /gene_synonym="OR11-138"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH72.1);
                     transmembrane region"
ORIGIN
        1 catgaaggtg gctgatggtg tgattcaaga ttgaactgga agttcaagga ttctcaactc
       61 tcagctggaa ctcatatcaa cacctgagaa atggaaaatc aaaacaatgt gactgaattc
      121 attcttctgg gtctcacaga gaacctggag ctgtggaaaa tattttctgc tgtgtttctt
      181 gtcatgtatg tagccacagt gctggaaaat ctacttattg tggtaactat tatcacaagt
      241 cagagtctga ggtcacctat gtattttttt cttaccttct tgtccctttt ggatgtcatg
      301 ttctcatctg tcgttgcccc caaggtgatt gtagacaccc tctccaagag cactaccatc
      361 tctctcaaag gctgcctcac ccagctgttt gtggagcatt tctttggtgg tgtggggatc
      421 atcctcctca ctgtgatggc ctatgaccgc tacgtggcca tctgtaagcc cctgcactac
      481 acgatcatca tgagtccacg ggtgtgctgc ctaatggtag gaggggcttg ggtgggggga
      541 tttatgcacg caatgataca acttctcttc atgtatcaaa tacccttctg tggtcctaat
      601 atcatagatc actttatatg tgatttgttt cagttgttga cacttgcctg cacggacacc
      661 cacatcctgg gcctcttagt taccctcaac agtgggatga tgtgtgtggc catctttctt
      721 atcttaattg cgtcctacac ggtcatccta tgctccctga agtcttacag ctctaaaggg
      781 cggcacaaag ccctctctac ctgcagctcc cacctcacgg tggttgtatt gttctttgtc
      841 ccctgtattt tcttgtacat gaggcctgtg gtcactcacc ccatagacaa ggcaatggct
      901 gtgtcagact caatcatcac acccatgtta aatcccttga tctatacact gaggaatgca
      961 gaggtgaaaa gtgccatgaa gaaactctgg atgaaatggg aggctttggc tgggaaataa
//
LOCUS       NM_001004705            2482 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily D member 10
            (OR4D10), mRNA.
ACCESSION   NM_001004705
VERSION     NM_001004705.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2482)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 2482)
  AUTHORS   Gilad Y and Lancet D.
  TITLE     Population differences in the human functional olfactory repertoire
  JOURNAL   Mol Biol Evol 20 (3), 307-314 (2003)
   PUBMED   12644552
REFERENCE   3  (bases 1 to 2482)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2155371
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000530162.2/ ENSP00000436424.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003778.3.
            On Aug 6, 2020 this sequence version replaced NM_001004705.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2482
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..2482
                     /gene="OR4D10"
                     /gene_synonym="OR11-251; OR4D10P; OST711"
                     /note="olfactory receptor family 4 subfamily D member 10"
                     /db_xref="GeneID:390197"
                     /db_xref="HGNC:HGNC:15173"
     misc_feature    548..550
                     /gene="OR4D10"
                     /gene_synonym="OR11-251; OR4D10P; OST711"
                     /note="upstream in-frame stop codon"
     CDS             551..1486
                     /gene="OR4D10"
                     /gene_synonym="OR11-251; OR4D10P; OST711"
                     /note="olfactory receptor, family 4, subfamily D, member 10
                     pseudogene; olfactory receptor OR11-251; seven
                     transmembrane helix receptor"
                     /codon_start=1
                     /product="olfactory receptor 4D10"
                     /protein_id="NP_001004705.1"
                     /db_xref="CCDS:CCDS53636.1"
                     /db_xref="GeneID:390197"
                     /db_xref="HGNC:HGNC:15173"
                     /translation="MEMENCTRVKEFIFLGLTQNREVSLVLFLFLLLVYVTTLLGNLLI
                     MVTVTCESRLHTPMYFLLHNLSIADICFSSITVPKVLVDLLSERKTISFNHCFTQMFLF
                     HLIGGVDVFSLSVMALDRYVAISKPLHYATIMSRDHCIGLTVAAWLGGFVHSIVQISLL
                     LPLPFCGPNVLDTFYCDVHRVLKLAHTDIFILELLMISNNGLLTTLWFFLLLVSYIVIL
                     SLPKSQAGEGRRKAISTCTSHITVVTLHFVPCIYVYARPFTALPMDKAISVTFTVISPL
                     LNPLIYTLRNHEMKSAMRRLKRRLVPSDRK"
     misc_feature    563..565
                     /gene="OR4D10"
                     /gene_synonym="OR11-251; OR4D10P; OST711"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGI6.1); glycosylation site"
     misc_feature    626..697
                     /gene="OR4D10"
                     /gene_synonym="OR11-251; OR4D10P; OST711"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI6.1);
                     transmembrane region"
     misc_feature    722..787
                     /gene="OR4D10"
                     /gene_synonym="OR11-251; OR4D10P; OST711"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI6.1);
                     transmembrane region"
     misc_feature    851..910
                     /gene="OR4D10"
                     /gene_synonym="OR11-251; OR4D10P; OST711"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI6.1);
                     transmembrane region"
     misc_feature    968..1024
                     /gene="OR4D10"
                     /gene_synonym="OR11-251; OR4D10P; OST711"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI6.1);
                     transmembrane region"
     misc_feature    1136..1207
                     /gene="OR4D10"
                     /gene_synonym="OR11-251; OR4D10P; OST711"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI6.1);
                     transmembrane region"
     misc_feature    1256..1324
                     /gene="OR4D10"
                     /gene_synonym="OR11-251; OR4D10P; OST711"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI6.1);
                     transmembrane region"
     misc_feature    1358..1417
                     /gene="OR4D10"
                     /gene_synonym="OR11-251; OR4D10P; OST711"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI6.1);
                     transmembrane region"
ORIGIN
        1 cccattgaaa ctcccttacc aacagcaaaa tcagccactt gacttctctg ttgtccaata
       61 acattctctt tccaattcat aaattaagca tgagcctcag aggtttgaac ataagtcaag
      121 gacacaatgg aaaaacttta aaagatatga ttctttgaat ctgacttttc tctccaaaag
      181 cagagcaaag acactgcgat atttagcata gcaaagggct taacttttaa acaagatttt
      241 caagaattaa tgccagtagt cttctgttat gcactatatc taatagcatc aaatttgtag
      301 ttggagtttt gggatcaaag gaactaggta tatcaaatgc ttcagagtta aaataatcat
      361 ctcaatgaca gaaacaacaa agactaactg aaatctgaaa aacgtgaaca atgcaacaaa
      421 ctgcaaaaac tacaaccgca tgggaagttt ctgcactgca ttctaggtgt ttaggaagac
      481 aacaaaataa atatcccagt gctttcacat gacatggttt aaaaccaaag agaataaaga
      541 ggatgattga atggagatgg aaaactgcac cagggtaaaa gaatttattt tccttggcct
      601 gacccagaat cgggaagtga gcttagtctt atttcttttc ctactcttgg tgtatgtgac
      661 aactttgctg ggaaacctcc tcatcatggt cactgttacc tgtgaatctc gccttcacac
      721 gcccatgtat tttttgctcc ataatttatc tattgccgat atctgcttct cttccatcac
      781 agtgcccaag gttctggtgg accttctgtc tgaaagaaag accatctcct tcaatcattg
      841 cttcactcag atgtttctat tccaccttat tggaggggtg gatgtatttt ctctttcggt
      901 gatggcattg gatcgatatg tggccatctc caagcccctg cactatgcga ctatcatgag
      961 tagagaccat tgcattgggc tcacagtggc tgcctggttg gggggctttg tccactccat
     1021 cgtgcagatt tccctgttgc tcccactccc tttctgcgga cccaatgttc ttgacacttt
     1081 ctactgtgat gtccaccggg tcctcaaact ggcccataca gacattttca tacttgaact
     1141 actaatgatt tccaacaatg gactgctcac cacactgtgg tttttcctgc tcctggtgtc
     1201 ctacatagtc atattatcat tacccaagtc tcaggcagga gagggcagga ggaaagccat
     1261 ctccacctgc acctcccaca tcactgtggt gaccctgcat ttcgtgccct gcatctatgt
     1321 ctatgcccgg cccttcactg ccctccccat ggataaggcc atctctgtca ccttcactgt
     1381 catctcccct ctgctcaacc ccttgatcta cactctgagg aaccatgaga tgaagtcagc
     1441 catgaggaga ctgaagagaa gacttgtgcc ttctgataga aaatagaaaa aaaaatcctc
     1501 agctcttcat caccaaagat atcttatatt tattattttt cccatgaagt catattcata
     1561 tattcaaata tattgtcaaa ccaactacac ttagtaataa ttaatttttc tatttatgtt
     1621 agtaagtaac tgataagctt ctggtcaggg agagattcac accttctaat tgaaaataaa
     1681 ccagagctcc ctcctcttta ccaccaagat tttgtttcat gatttttctt ccatggactc
     1741 caagttctga aagtgttgcc tgctgaattg aatatattta tttagtgatt gctaagtatt
     1801 tgttttattt tcataagtaa tacataaaat tatatatata cctagcaaat gcatattata
     1861 tatagtaaat cttcttatct gcatttagtt gacataaata ttaataattt aaacagagcc
     1921 tttgtgattc agaaaagaga gggaaaattg ttagcaaatg tgtatatgat tttgcagtcc
     1981 aattttaaag aaaaattaag ccaaatgcac gcagacatta tcattacctt tctgctccta
     2041 ttacagtaaa tgaaggtgtg gggtgtatct gaaacacaat ggagtttggg gattgacttt
     2101 ctgtataatt ttcataaggt aaacgtatcc tacatgatcc ttatgatggg caaggtcatt
     2161 accttgccct ttcttgaacc ccaagctcac tggccaccct accgcatttc cttggcactc
     2221 tgtgcttagg gttagcattg cactcaggac tctattttga aatttcctat tttcttgtct
     2281 ctttctctta ctgggcagtg acttccccag gagcagggat tatgttttat ttactgtcac
     2341 agcagctaaa acatactaag acttcaacaa tatgttgctg aataaatagc tcaatgattg
     2401 aatgttttca cttacttgat atactctgtg gcctgtgagt ttctacaaat gacaaaaaca
     2461 cattaagcta ctttaagcta tg
//
LOCUS       NM_001004706             936 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily D member 11
            (OR4D11), mRNA.
ACCESSION   NM_001004706
VERSION     NM_001004706.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 936)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 936)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313253.1/ ENSP00000320077.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003778.3.
            On Sep 19, 2004 this sequence version replaced XM_166903.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..936
                     /gene="OR4D11"
                     /gene_synonym="OR4D11P"
                     /note="olfactory receptor family 4 subfamily D member 11"
                     /db_xref="GeneID:219986"
                     /db_xref="HGNC:HGNC:15174"
     CDS             1..936
                     /gene="OR4D11"
                     /gene_synonym="OR4D11P"
                     /note="olfactory receptor, family 4, subfamily D, member 11
                     pseudogene; olfactory receptor OR11-252 pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 4D11"
                     /protein_id="NP_001004706.1"
                     /db_xref="CCDS:CCDS31563.1"
                     /db_xref="GeneID:219986"
                     /db_xref="HGNC:HGNC:15174"
                     /translation="MELGNVTRVKEFIFLGLTQSQDQSLVLFLFLCLVYMTTLLGNLLI
                     MVTVTCESRLHTPMYFLLRNLAILDICFSSTTAPKVLLDLLSKKKTISYTSCMTQIFLF
                     HLLGGADIFSLSVMAFDCYMAISKPLHYVTIMSRGQCTALISASWMGGFVHSIVQISLL
                     LPLPFCGPNVLDTFYCDVPQVLKLTCTDTFALEFLMISNNGLVTTLWFIFLLVSYTVIL
                     MTLRSQAGGGRRKAISTCTSHITVVTLHFVPCIYVYARPFTALPTEKAISVTFTVISPL
                     LNPLIYTLRNQEMKSAMRRLKRRLVPSERE"
     misc_feature    13..15
                     /gene="OR4D11"
                     /gene_synonym="OR4D11P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGI4.1); glycosylation site"
     misc_feature    76..147
                     /gene="OR4D11"
                     /gene_synonym="OR4D11P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI4.1);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR4D11"
                     /gene_synonym="OR4D11P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI4.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR4D11"
                     /gene_synonym="OR4D11P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI4.1);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR4D11"
                     /gene_synonym="OR4D11P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI4.1);
                     transmembrane region"
     misc_feature    586..657
                     /gene="OR4D11"
                     /gene_synonym="OR4D11P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI4.1);
                     transmembrane region"
     misc_feature    706..774
                     /gene="OR4D11"
                     /gene_synonym="OR4D11P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI4.1);
                     transmembrane region"
     misc_feature    808..867
                     /gene="OR4D11"
                     /gene_synonym="OR4D11P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI4.1);
                     transmembrane region"
ORIGIN
        1 atggagttgg gaaatgtcac cagagtaaaa gaatttatat ttctgggact tactcaatcc
       61 caagaccaga gtttggtctt gtttcttttt ttatgtcttg tgtacatgac gactctgctg
      121 ggaaacctcc tcatcatggt caccgtgacc tgtgagtctc gccttcacac ccccatgtac
      181 ttcctgctcc gcaatctagc catccttgac atctgcttct cctccacaac tgctcctaaa
      241 gtcttgctgg accttctgtc aaagaaaaag accatatcct atacaagctg catgacacag
      301 atatttctct tccacctcct tggtggggca gacatttttt ctctctctgt gatggcgttt
      361 gactgctaca tggccatctc caagcccctg cactatgtga ccatcatgag tagagggcaa
      421 tgcactgccc tcatctctgc ctcttggatg gggggctttg tccactccat cgtgcagatc
      481 tccctgttgc tgcctctccc tttctgtgga cccaatgttc ttgacacttt ctactgcgat
      541 gtcccccagg tcctcaaact cacttgcact gacacttttg ctcttgagtt cttgatgatt
      601 tccaacaatg gcctggtcac taccctgtgg tttatcttcc tgcttgtgtc ctacacagtc
      661 atcctaatga cgctgaggtc tcaggcagga gggggcagga ggaaagccat ctccacttgc
      721 acctcccaca tcactgtggt gaccctgcat tttgtgccct gcatctatgt ctatgcccgg
      781 cccttcactg ccctccccac agaaaaggcc atctctgtca ccttcactgt catctcccct
      841 ctgctgaacc ctttgatcta cactctgagg aaccaggaaa tgaagtcagc catgagaaga
      901 ctgaagagaa gactcgtgcc ttctgaaagg gaatag
//
LOCUS       NM_001004707            1551 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily D member 2
            (OR4D2), mRNA.
ACCESSION   NM_001004707
VERSION     NM_001004707.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1551)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1551)
  AUTHORS   Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR,
            Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR,
            Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen
            CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K,
            FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham
            DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S,
            Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G,
            Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P,
            Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J,
            Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith
            C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker
            CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J,
            Lander ES and Nusbaum C.
  TITLE     DNA sequence of human chromosome 17 and analysis of rearrangement in
            the human lineage
  JOURNAL   Nature 440 (7087), 1045-1049 (2006)
   PUBMED   16625196
REFERENCE   3  (bases 1 to 1551)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   4  (bases 1 to 1551)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000545221.2/ ENSP00000441354.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005962.1.
            On Aug 6, 2020 this sequence version replaced NM_001004707.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1551
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q22"
     gene            1..1551
                     /gene="OR4D2"
                     /gene_synonym="BC2009; OR17-24"
                     /note="olfactory receptor family 4 subfamily D member 2"
                     /db_xref="GeneID:124538"
                     /db_xref="HGNC:HGNC:8294"
     misc_feature    31..33
                     /gene="OR4D2"
                     /gene_synonym="BC2009; OR17-24"
                     /note="upstream in-frame stop codon"
     CDS             91..1014
                     /gene="OR4D2"
                     /gene_synonym="BC2009; OR17-24"
                     /note="olfactory receptor OR17-24; G-protein coupled
                     membrane protein; B-lymphocyte membrane protein BC2009"
                     /codon_start=1
                     /product="olfactory receptor 4D2"
                     /protein_id="NP_001004707.1"
                     /db_xref="CCDS:CCDS32688.1"
                     /db_xref="GeneID:124538"
                     /db_xref="HGNC:HGNC:8294"
                     /translation="METGNLTWVSDFVFLGLSQTRELQRFLFLMFLFVYITTVMGNILI
                     IITVTSDSQLHTPMYFLLRNLAVLDLCFSSVTAPKMLVDLLSEKKTISYQGCMGQIFFF
                     HFLGGAMVFFLSVMAFDRLIAISRPLRYVTVMNTQLWVGLVVATWVGGFVHSIVQLALM
                     LPLPFCGPNILDNFYCDVPQVLRLACTDTSLLEFLKISNSGLLDVVWFFLLLMSYLFIL
                     VMLRSHPGEARRKAASTCTTHIIVVSMIFVPSIYLYARPFTPFPMDKLVSIGHTVMTPM
                     LNPMIYTLRNQDMQAAVRRLGRHRLV"
     misc_feature    103..105
                     /gene="OR4D2"
                     /gene_synonym="BC2009; OR17-24"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P58180.1); glycosylation site"
     misc_feature    166..237
                     /gene="OR4D2"
                     /gene_synonym="BC2009; OR17-24"
                     /note="propagated from UniProtKB/Swiss-Prot (P58180.1);
                     transmembrane region"
     misc_feature    262..327
                     /gene="OR4D2"
                     /gene_synonym="BC2009; OR17-24"
                     /note="propagated from UniProtKB/Swiss-Prot (P58180.1);
                     transmembrane region"
     misc_feature    391..450
                     /gene="OR4D2"
                     /gene_synonym="BC2009; OR17-24"
                     /note="propagated from UniProtKB/Swiss-Prot (P58180.1);
                     transmembrane region"
     misc_feature    508..564
                     /gene="OR4D2"
                     /gene_synonym="BC2009; OR17-24"
                     /note="propagated from UniProtKB/Swiss-Prot (P58180.1);
                     transmembrane region"
     misc_feature    676..747
                     /gene="OR4D2"
                     /gene_synonym="BC2009; OR17-24"
                     /note="propagated from UniProtKB/Swiss-Prot (P58180.1);
                     transmembrane region"
     misc_feature    796..864
                     /gene="OR4D2"
                     /gene_synonym="BC2009; OR17-24"
                     /note="propagated from UniProtKB/Swiss-Prot (P58180.1);
                     transmembrane region"
     misc_feature    898..957
                     /gene="OR4D2"
                     /gene_synonym="BC2009; OR17-24"
                     /note="propagated from UniProtKB/Swiss-Prot (P58180.1);
                     transmembrane region"
ORIGIN
        1 ggaaaacaac aaagcacaga attcgcccta tgagacttag agggaggatg ctcacagcaa
       61 aggacatcaa cggtgtatgg agaaaacacc atggaaacag ggaacctcac gtgggtatca
      121 gactttgtct tcctggggct ctcgcagact cgggagctcc agcgtttcct gtttctaatg
      181 ttcctgtttg tctacatcac cactgttatg ggaaacatcc ttatcatcat cacagtgacc
      241 tctgattccc agctccacac acccatgtac tttctgctcc gaaacctggc tgtcctagac
      301 ctctgtttct cttcagtcac tgctcccaaa atgctagtgg acctcctctc tgagaagaaa
      361 accatctctt accagggctg catgggtcag atcttcttct tccacttttt gggaggtgcc
      421 atggtcttct tcctctcagt gatggccttt gaccgcctca ttgccatctc ccggcccctc
      481 cgctatgtca ccgtcatgaa cactcagctc tgggtggggc tggtggtagc cacctgggtg
      541 ggaggctttg tccactctat tgtccagctg gctctgatgc tcccactgcc cttctgtggc
      601 cccaacattt tggataactt ctactgtgat gttccccaag tactgagact tgcctgcact
      661 gacacctcac tgctggagtt cctcaagatc tccaacagtg ggctgctgga tgtcgtctgg
      721 ttcttcctcc tcctgatgtc ctacttattc atcctggtga tgctgaggtc acatccaggg
      781 gaggcaagaa ggaaggcagc ttccacctgc accacccaca tcatcgtggt ttccatgatc
      841 ttcgttccaa gcatttacct ctatgcccgg cccttcactc cattccctat ggacaagctt
      901 gtgtccatcg gccacacagt catgaccccc atgctcaacc ccatgatcta taccctgagg
      961 aaccaggaca tgcaggcagc agtgagaaga ttagggagac accggctggt ttgagagtga
     1021 caatggtagg tttcttctct ttggctttgt tttccctttg tgaagtggag agggagctac
     1081 tacctttgct ctcttcatag tgtgttgagg ttcatcatag cagggaatga attttgaaac
     1141 taagcaactt cgtgttttag gaaaaaagaa agtatcctct ttggtggtta aggtttgtga
     1201 taaagagttt taacacactc gcaacaatga gaattgttca catggcccct gaaaaccaca
     1261 ccttcctttt caccttcttg gtggacagtt tcctgttgac agcatttccc ctgtgcgaac
     1321 atttctattt tccgtatttt gagctctctt cccaatattt ccttttggtg tgagtctggg
     1381 ttgttgggaa cagcacagaa tttggagtct taagctctaa attagaggcc ctgacccatc
     1441 attgaccaaa ctgatgactt cgagtaagcc acccagcttt tcttggcctc atgatttctc
     1501 cctcaccaat ttgcttaaat tagtatgtgc ccctaaaata ttctatgttt g
//
LOCUS       NM_001004708             945 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily D member 6
            (OR4D6), mRNA.
ACCESSION   NM_001004708
VERSION     NM_001004708.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 945)
  AUTHORS   Li B, Kamarck ML, Peng Q, Lim FL, Keller A, Smeets MAM, Mainland JD
            and Wang S.
  TITLE     From musk to body odor: Decoding olfaction through genetic variation
  JOURNAL   PLoS Genet 18 (2), e1009564 (2022)
   PUBMED   35113854
  REMARK    GeneRIF: From musk to body odor: Decoding olfaction through genetic
            variation. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 945)
  AUTHORS   McRae JF, Jaeger SR, Bava CM, Beresford MK, Hunter D, Jia Y, Chheang
            SL, Jin D, Peng M, Gamble JC, Atkinson KR, Axten LG, Paisley AG,
            Williams L, Tooman L, Pineau B, Rouse SA and Newcomb RD.
  TITLE     Identification of regions associated with variation in sensitivity
            to food-related odors in the human genome
  JOURNAL   Curr Biol 23 (16), 1596-1600 (2013)
   PUBMED   23910658
  REMARK    Erratum:[Curr Biol. 2013 Sep 9;23(17):1718]
REFERENCE   3  (bases 1 to 945)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   4  (bases 1 to 945)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000300127.3/ ENSP00000300127.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065803.1.
            On Sep 19, 2004 this sequence version replaced XM_166900.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..945
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..945
                     /gene="OR4D6"
                     /gene_synonym="OR11-250"
                     /note="olfactory receptor family 4 subfamily D member 6"
                     /db_xref="GeneID:219983"
                     /db_xref="HGNC:HGNC:15175"
     CDS             1..945
                     /gene="OR4D6"
                     /gene_synonym="OR11-250"
                     /note="olfactory receptor OR11-250"
                     /codon_start=1
                     /product="olfactory receptor 4D6"
                     /protein_id="NP_001004708.1"
                     /db_xref="CCDS:CCDS31562.1"
                     /db_xref="GeneID:219983"
                     /db_xref="HGNC:HGNC:15175"
                     /translation="MDQINHTNVKEFFFLELTRSRELEFFLFVVFFAVYVATVLGNALI
                     VVTITCESRLHTPMYFLLRNKSVLDIVFSSITVPKFLVDLLSDRKTISYNDCMAQIFFF
                     HFAGGADIFFLSVMAYDRYLAIAKPLHYVTMMRKEVWVALVVASWVSGGLHSIIQVILM
                     LPFPFCGPNTLDAFYCYVLQVVKLACTDTFALELFMISNNGLVTLLWFLLLLGSYTVIL
                     VMLRSHSGEGRNKALSTCTSHMLVVTLHFVPCVYIYCRPFMTLPMDTTISINNTVITPM
                     LNPIIYSLRNQEMKSAMQRLQRRLGPSESRKWG"
     misc_feature    13..15
                     /gene="OR4D6"
                     /gene_synonym="OR11-250"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGJ1.1); glycosylation site"
     misc_feature    76..147
                     /gene="OR4D6"
                     /gene_synonym="OR11-250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ1.1);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR4D6"
                     /gene_synonym="OR11-250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ1.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR4D6"
                     /gene_synonym="OR11-250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ1.1);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR4D6"
                     /gene_synonym="OR11-250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ1.1);
                     transmembrane region"
     misc_feature    586..657
                     /gene="OR4D6"
                     /gene_synonym="OR11-250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ1.1);
                     transmembrane region"
     misc_feature    706..774
                     /gene="OR4D6"
                     /gene_synonym="OR11-250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ1.1);
                     transmembrane region"
     misc_feature    808..867
                     /gene="OR4D6"
                     /gene_synonym="OR11-250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ1.1);
                     transmembrane region"
ORIGIN
        1 atggaccaga tcaaccacac taatgtgaag gagtttttct tcctggaact tacacgttcc
       61 cgagagctgg agtttttctt gtttgtggtc ttctttgctg tgtatgtagc aacagtcctg
      121 ggaaatgcac tcattgtggt cactattacc tgtgagtccc gcctacacac tcctatgtac
      181 tttctcctgc ggaacaaatc agtcctggac atcgtttttt catctatcac cgtccccaag
      241 ttcctggtgg atcttttatc agacaggaaa accatctcct acaatgactg catggcacag
      301 atctttttct tccactttgc tggtggggca gatatttttt tcctctctgt gatggcctat
      361 gacagatacc ttgcaatcgc caagcccctg cactatgtga ccatgatgag gaaagaggtg
      421 tgggtggcct tggtggtggc ttcttgggtg agtggtggtt tgcattcaat catccaggta
      481 attctgatgc ttccattccc cttctgtggc cccaacacac tggatgcctt ctactgttat
      541 gtgctccagg tggtaaaact ggcctgcact gacacctttg ctttggagct tttcatgatc
      601 tctaacaacg gactggtgac cctgctctgg ttcctcctgc tcctgggctc ctacactgtc
      661 attctggtga tgctgagatc ccactctggg gaggggcgga acaaggccct ctccacgtgc
      721 acgtcccaca tgctggtggt gactcttcac ttcgtgcctt gtgtttacat ctactgccgg
      781 cccttcatga cgctgcccat ggacacaacc atatccatta ataacacggt cattaccccc
      841 atgctgaacc ccatcatcta ttccctgaga aatcaagaga tgaagtcagc catgcagagg
      901 ctgcagagga gacttgggcc ttccgagagc agaaaatggg ggtga
//
LOCUS       NM_001004711            6123 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily D member 9
            (OR4D9), mRNA.
ACCESSION   NM_001004711
VERSION     NM_001004711.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6123)
  AUTHORS   Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd
            C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E,
            Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K,
            Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC,
            Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES and
            Sakaki Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
REFERENCE   2  (bases 1 to 6123)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641962.1/ ENSP00000493010.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003778.3.
            On Aug 10, 2020 this sequence version replaced NM_001004711.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..6123
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..6123
                     /gene="OR4D9"
                     /gene_synonym="OR11-253"
                     /note="olfactory receptor family 4 subfamily D member 9"
                     /db_xref="GeneID:390199"
                     /db_xref="HGNC:HGNC:15178"
     misc_feature    315..317
                     /gene="OR4D9"
                     /gene_synonym="OR11-253"
                     /note="upstream in-frame stop codon"
     CDS             333..1277
                     /gene="OR4D9"
                     /gene_synonym="OR11-253"
                     /note="olfactory receptor, family 4, subfamily D, member 9
                     pseudogene; olfactory receptor OR11-253"
                     /codon_start=1
                     /product="olfactory receptor 4D9"
                     /protein_id="NP_001004711.1"
                     /db_xref="CCDS:CCDS31564.1"
                     /db_xref="GeneID:390199"
                     /db_xref="HGNC:HGNC:15178"
                     /translation="MDQRNYTRVKEFTFLGITQSRELSQVLFTFLFLVYMTTLMGNFLI
                     MVTVTCESHLHTPMYFLLRNLSILDICFSSITAPKVLIDLLSETKTISFSGCVTQMFFF
                     HLLGGADVFSLSVMAFDRYIAISKPLHYMTIMSRGRCTGLIVASWVGGFVHSIAQISLL
                     LPLPFCGPNVLDTFYCDVPQVLKLACTDTFTLELLMISNNGLVSWFVFFFLLISYTVIL
                     MMLRSHTGEGRRKAISTCTSHITVVTLHFVPCIYVYARPFTALPTDTAISVTFTVISPL
                     LNPIIYTLRNQEMKLAMRKLKRRLGQSERILIQ"
     misc_feature    345..347
                     /gene="OR4D9"
                     /gene_synonym="OR11-253"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGE8.3); glycosylation site"
     misc_feature    408..479
                     /gene="OR4D9"
                     /gene_synonym="OR11-253"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE8.3);
                     transmembrane region"
     misc_feature    504..569
                     /gene="OR4D9"
                     /gene_synonym="OR11-253"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE8.3);
                     transmembrane region"
     misc_feature    633..692
                     /gene="OR4D9"
                     /gene_synonym="OR11-253"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE8.3);
                     transmembrane region"
     misc_feature    750..806
                     /gene="OR4D9"
                     /gene_synonym="OR11-253"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE8.3);
                     transmembrane region"
     misc_feature    918..989
                     /gene="OR4D9"
                     /gene_synonym="OR11-253"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE8.3);
                     transmembrane region"
     misc_feature    1038..1106
                     /gene="OR4D9"
                     /gene_synonym="OR11-253"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE8.3);
                     transmembrane region"
     misc_feature    1140..1199
                     /gene="OR4D9"
                     /gene_synonym="OR11-253"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE8.3);
                     transmembrane region"
ORIGIN
        1 agaatttccc cagtacctac ttcttctaaa atgcagctga ggcatcataa gaggatcaat
       61 ttcccactta aagattaaac cagcagttag tattagtgcc tatgaacttc tgaaactgaa
      121 aagctgtttg tgctgaattt tgagaaatgc tgcaaatgtg tagaatgttc ctatggaagt
      181 caagactctt aagaagcaaa gaaaagagca gcagcagtga gagaactttg tctcctggga
      241 tgactgaatc aaaaacctgg gtaatctttc atccagtggt ggcatactga cttgcagaca
      301 caagatgaac ctgataaagg atctgtgatt caatggatca gagaaattac accagagtga
      361 aagaatttac cttcctggga attactcagt cccgagaact gagccaggtc ttatttacct
      421 tcctgttttt ggtgtacatg acaactctaa tgggaaactt cctcatcatg gttacagtta
      481 cctgtgaatc tcaccttcat acgcccatgt acttcctgct ccgcaacctg tctattcttg
      541 acatctgctt ttcctccatc acagctccta aggtcctgat agatcttcta tcagagacaa
      601 aaaccatctc cttcagtggc tgtgtcactc aaatgttctt cttccacctt ctggggggag
      661 cagacgtttt ttctctctct gtgatggcgt ttgaccgcta tatagccatc tccaagcccc
      721 tgcactatat gaccatcatg agtagggggc gatgcacagg cctcatcgtg gcttcctggg
      781 tggggggctt tgtccactcc atagcgcaga tttctctatt gctcccactc cctttctgtg
      841 gacccaatgt tcttgacact ttctactgcg atgtccccca ggtcctcaaa cttgcctgca
      901 ctgacacctt cactctggag ctcctgatga tttcaaataa tgggttagtc agttggtttg
      961 tattcttctt tctcctcata tcttacacgg tcatcttgat gatgctgagg tctcacactg
     1021 gggaaggcag gaggaaagcc atctccacct gcacctccca catcaccgtg gtgaccctgc
     1081 atttcgtgcc ctgcatctat gtctatgccc ggcccttcac tgccctcccc acagacactg
     1141 ccatctctgt caccttcact gtcatctccc ctttgctcaa tcctataatt tacacgctga
     1201 ggaatcagga aatgaagttg gccatgagga aactgaagag acggctagga caatcagaaa
     1261 ggattttaat tcaataaggg taagatagta cccatattta aagatagaca ttaaatttca
     1321 ctttctcaaa atgggaaagg agcttgttca tgcccaaaac aaagagatac ctatggccac
     1381 catcgagtcc taaaagaagt tattccatca tatatgttgg ggaccacgtg gatgatactg
     1441 ctctaagaca aaatccactc aagtctttcc ctactcactt tcaattattc attccacaaa
     1501 tttttataga gcatacacta tatgtctgaa agtactggga ttcagattgc tgcaaaaaga
     1561 ttaaatgtag tcaccttcct ggaggcataa cccaaaatac ttattaaaaa atataaacag
     1621 gccaggcgtg gtggctcaca cctgtaatcc cagcactttg ggaggccaag gcaggcagat
     1681 gacctgaggt cgggagttca agaccagcct gaccaacatg gagaaactca gtctctacta
     1741 aaaatacaaa gaaaaatagg ccaggcatgg tggcgcatgc ctgtaatccc agctactcgg
     1801 aaggctgagg caggagaatc acttgaaccc gggaggcaga ggttgcagta agctgagatc
     1861 acaccatcac actccagcct gggcaacaag agcgaaactc catctcaaaa aaataaaaaa
     1921 aataaaaaat aaataaacaa agtgctaggg gaactgtagc cacaatatta cttgagagtt
     1981 tccaaagaca tttaacagcc agtagacatt ttcaagggga aaaagatcag aaaagaacaa
     2041 tccaagcaag gaaaacaaca tgtacttgtc cacatgaggt gtcttatgcc tgtaatctta
     2101 gcactttggg aggctgaggt ggagggatca cttgagccca agagttcaag accagcctgg
     2161 gcaacttagt gaaacctcat ctctacaaaa aatcatgata ataggccggg cgcggtggct
     2221 tatgcctgta atcccagcac tttgggaggc caaggcgggt ggatcacaag gtcaggagat
     2281 cgagaccatc ccggctaaca tggtgaaagc ccatctctac taaaaataca aaaacaaaat
     2341 tagccaggct tggtggtggg tgcctgtagt cccagctact ggggaggctg aggcgggaga
     2401 atggcatgaa cccgggaagc agagcttgca gtgagccgag atcacaccac tgtactccag
     2461 cctgggcaac agagcaagac tctgtccaaa aataataata ataattaata aataaataaa
     2521 aattaaccag acatgatgat gcacacctgt agtcccagct acttgagaga ctgaggcagg
     2581 agaggttgag gctgcagtga gccatgttca cttcactgca ctccagcctg agcaacagat
     2641 caagacactt gtcaaaaaaa aaaaagaaaa gaaaagacaa aaagaaacca gcatgcgcaa
     2701 agaaagaaaa tgaggtgaga ttgtgccaca tttgtgtaac agtgaactca gtgcagccat
     2761 ggcgtaatac actcttgggg tgaatactgg tactggacct ttaaaagaaa agttgggaag
     2821 aataactcca tttatgacca cctgaacaat gcaagcccat gatttctgtt gaggagagag
     2881 gatccccaat tcacttcaag gacataattt cctcctagga gaaggaaata atgctgttag
     2941 tgagagtgtt cataaagaag aatcactgtt gccgggcgca gtggctcacg cctgtaatcc
     3001 cagcactttg ggaggctgag gcgggtggat cacgaggtta ggagatcgag gccagcttga
     3061 ccaacatggt gaaaccccat ttctactaaa aatacaaaaa ttaagccggg tgtggtggta
     3121 agcgcctgta atcccagcta ctcaggaggc taaggcagga gaattgcttg aacctgggag
     3181 gcggaggttg cagtgagcca agattgtgcc actgcactcc agcctgggcg acagagcgag
     3241 actccaactc aaaaaaaaaa aaggagaaga atcactgttg aggctgtgga cagctccttt
     3301 gattttgaga aaaaaatgag caaaggcaga tgccaagctc tcaaatggga agcaactgac
     3361 tcccccttat atagcaggat tagccagatc caaatttcct gttgtttcta tacacagtga
     3421 tctcaccact cctttacctg tgccactcaa tctattagaa ggtaaagaaa gggtataaaa
     3481 agcatgatag tttaattagt gaacctgaga atttgccagt ctctgttgtg aaagagacag
     3541 ggatagtgct aggagaagat ttatctgaca atccagctga tactctgcta agatctattg
     3601 acttcaccat actgtgttcc ccactatgat aaagctcaag ccatagcagc tggcacacat
     3661 ttatcaatca gagtaggcca accactgcaa caaaaatgtc cacggtctaa gtagttagcc
     3721 acaacaaaag tttacttctt gctcatgtca caggccaatg ctggtctgca gaaagagggc
     3781 acagtgccac actgtcattc agaaatgcag gcttctcccg tcttgggctc cacattctct
     3841 agatcctcag aatcctgtcc atgatccagc agatggagaa agggagagag aattaagaat
     3901 aagtgattct cctgcctcag cctcttgagt agctgggact acagacatgc accactatat
     3961 ctggctaatt ttgtatattt ttattttcat agagatgagg tctcactaag ttgcccaggc
     4021 tggttgaaat tcttggactc aaatgatccc tccacttcag cctcccaaaa tgctagaatt
     4081 acaggcatga gacacctcac ctgaacatgc tcatgctgtc ttatgctcca cagtctctag
     4141 atcctcataa tcctgttcat gcatccagca gatagagaaa gggagagaaa ttaagaatta
     4201 tggggaaggg aggggtgtgt ctttatggga cagtcctgga agtggtgtga actacttatg
     4261 accactttca ttggccagcc cttggtcaca tagcctcacc tgacagcaag ggagcctgga
     4321 gaatgaaatc aaactctgct ctcagaaaga agaaaatatg aagaatgaac tctagtgatc
     4381 tcttccacat gtaagattca ctgctaagaa atcacagttg ggttacatta caaagattaa
     4441 gactttgtct ataaaaggat tctcttaata cataaaaatg tttgctacag ggctggctgc
     4501 ggtggctcat gcctgtaatc tcagcacctt gggaggccag ggagggtgga ttgcttgagc
     4561 tcaggagttt cagaacagcc tgggcaacat ggcaaaaccc catctctaca aaaaatataa
     4621 aaattagcag agcatggtgg cacacgcctg tagtcctagc tactcaggag actgagctgg
     4681 gaggatcact tgagcctggg gaagtcaagg gtgcagcgag ccatgaatgc cccaccgtac
     4741 tcccacctgg gcaaaagagt gagaccctgt ctcaaaaaaa aaaaaagaaa aagtttgctg
     4801 gaaaggcaac tagaccctta gaacacacag agagccaaac cgaaatgaag gagatggggg
     4861 aaaatttttc ttaacttaaa ggaagaggga aatgatcaag gtaaaccctg ggattaggat
     4921 gacagtagac tagaagggca gggttccatg agatagaaca ttagggtaga gtgccccaag
     4981 aagataggcc aagaagacaa tcctcataga aagcaactct cacttattcc caaacttttc
     5041 atgggcttgt tgtaaacaag ttcgattaat gcagaagctc ctttagcaat gaatgttctc
     5101 caaaactacc atttgacgca gcaatcccat tgctgggtat atacccaaaa gaaaataaat
     5161 tattctacca aaaagacaca tgcacctgta tgttcacagt agcaaagaca aggaatcagc
     5221 ctaggtgccc atcaatggtg gactagatga agaaaatgtg atacattata caccatgggg
     5281 tactatgcag acatttttaa aaatgaattc atgtgcttta cagtaacatg gatgcagctg
     5341 gaggccgtga tcctaagcaa attaatgcag gaacaaaaaa tcgaatacca catgttctca
     5401 cttatgggtg agagctaacc atcgatttac acatggacac aaagatggga acaaaagaca
     5461 ctgaggccta cttgagggga ggagggtggg aagagtgtga ggtcagaaaa ctacctatta
     5521 ggtactatgc tcactaccaa gattgtcttc ttggccaatc ttctttgggc actctaccct
     5581 aatgttctat ctcatggaac cctgcccttc tagtcactac ctgggtgaca aaatcatttg
     5641 tacaccaaac cccagcaaca cacaatttac tcatgtaaca agcctacaca tgcacccgtt
     5701 gaacctaaaa taaaagttaa acaaaaatga aatcaatgtt atcttctttg ctgattgaca
     5761 tttcctgtgt tctatttcta ccactcaaaa atgttctgaa tttctcactc atagatggga
     5821 attgaacaat gagaacacat ggacacagga aggggaacat cacactctag ggactgttgt
     5881 ggggtggggg gaggggggag ggatagcatt aggagatata cctaatgcta aatgacgagt
     5941 taatgggcac agcacaccag catggcacat gtatatgtat gtaactaacc tgcacattgt
     6001 gcacatgtac cctaaaactt aaagtataat aataacaaaa aaaagaaaag ataaatgaag
     6061 tcaattgagg agataatagg gttttatttt ttcttttcct tgcaatgatt gttacaatgt
     6121 gct
//
LOCUS       NM_001004712            1245 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily K member 14
            (OR4K14), mRNA.
ACCESSION   NM_001004712
VERSION     NM_001004712.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1245)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 1245)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641793.1/ ENSP00000493106.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL359218.4.
            On Aug 3, 2020 this sequence version replaced NM_001004712.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1245
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1245
                     /gene="OR4K14"
                     /gene_synonym="OR14-18; OR14-22"
                     /note="olfactory receptor family 4 subfamily K member 14"
                     /db_xref="GeneID:122740"
                     /db_xref="HGNC:HGNC:15352"
     misc_feature    129..131
                     /gene="OR4K14"
                     /gene_synonym="OR14-18; OR14-22"
                     /note="upstream in-frame stop codon"
     CDS             195..1127
                     /gene="OR4K14"
                     /gene_synonym="OR14-18; OR14-22"
                     /note="olfactory receptor OR14-22; olfactory receptor
                     OR14-18 pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 4K14"
                     /protein_id="NP_001004712.1"
                     /db_xref="CCDS:CCDS32027.1"
                     /db_xref="GeneID:122740"
                     /db_xref="HGNC:HGNC:15352"
                     /translation="MDPQNYSLVSEFVLHGLCTSRHLQNFFFIFFFGVYVAIMLGNLLI
                     LVTVISDPCLHSSPMYFLLGNLAFLDMWLASFATPKMIRDFLSDQKLISFGGCMAQIFF
                     LHFTGGAEMVLLVSMAYDRYVAICKPLHYMTLMSWQTCIRLVLASWVVGFVHSISQVAF
                     TVNLPYCGPNEVDSFFCDLPLVIKLACMDTYVLGIIMISDSGLLSLSCFLLLLISYTVI
                     LLAIRQRAAGSTSKALSTCSAHIMVVTLFFGPCIFVYVRPFSRFSVDKLLSVFYTIFTP
                     LLNPIIYTLRNEEMKAAMKKLQNRRVTFQ"
     misc_feature    207..209
                     /gene="OR4K14"
                     /gene_synonym="OR14-18; OR14-22"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGD5.1); glycosylation site"
     misc_feature    270..341
                     /gene="OR4K14"
                     /gene_synonym="OR14-18; OR14-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD5.1);
                     transmembrane region"
     misc_feature    369..434
                     /gene="OR4K14"
                     /gene_synonym="OR14-18; OR14-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD5.1);
                     transmembrane region"
     misc_feature    498..557
                     /gene="OR4K14"
                     /gene_synonym="OR14-18; OR14-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD5.1);
                     transmembrane region"
     misc_feature    615..671
                     /gene="OR4K14"
                     /gene_synonym="OR14-18; OR14-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD5.1);
                     transmembrane region"
     misc_feature    783..854
                     /gene="OR4K14"
                     /gene_synonym="OR14-18; OR14-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD5.1);
                     transmembrane region"
     misc_feature    903..971
                     /gene="OR4K14"
                     /gene_synonym="OR14-18; OR14-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD5.1);
                     transmembrane region"
     misc_feature    1005..1064
                     /gene="OR4K14"
                     /gene_synonym="OR14-18; OR14-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD5.1);
                     transmembrane region"
ORIGIN
        1 actttaaaat aatgcttttc ctgaattgtt tttaagatgc agaagaagat gattaaatca
       61 tctctgggat aaaatatgtg ttttcaatag ctccattcaa gtataataga tgtaaaatat
      121 aaattgggtg agctgcagta tcagcactga gcatcttaac tccagattac aaacaaagtc
      181 tgaaacctga ggcaatggac ccacagaact attccttggt gtcagaattt gtgttgcatg
      241 gactctgcac ttcacgacat cttcaaaatt ttttctttat atttttcttt ggggtctatg
      301 tggccattat gctgggtaac cttctcattt tggtcactgt aatttctgat ccctgcctgc
      361 actcctcccc tatgtacttc ctgctgggga acctagcttt cctggacatg tggctggcct
      421 catttgccac tcccaagatg atcagggatt tccttagtga tcaaaaactc atctcctttg
      481 gaggatgtat ggctcaaatc ttcttcttgc actttactgg tggggctgag atggtgctcc
      541 tggtttccat ggcctatgac agatatgtgg ccatatgcaa acccttgcat tacatgactt
      601 tgatgagttg gcagacttgc atcaggctgg tgctggcttc atgggtcgtt ggatttgtgc
      661 actccatcag tcaagtggct ttcactgtaa atttgcctta ctgtggcccc aatgaggtag
      721 acagcttctt ctgtgacctc cctctggtga tcaaacttgc ctgcatggac acctatgtct
      781 tgggtataat tatgatctca gacagtgggt tgctttcctt gagctgtttt ctgctcctcc
      841 tgatctccta caccgtgatc ctcctcgcta tcagacagcg tgctgccggt agcacatcca
      901 aagcactctc cacttgctct gcacatatca tggtagtgac gctgttcttt ggcccttgca
      961 tttttgttta tgtgcggcct ttcagtaggt tctctgtgga caagctgctg tctgtgtttt
     1021 ataccatttt tactccactc ctgaacccca ttatctacac attgagaaat gaggagatga
     1081 aagcagctat gaagaaactg caaaaccgac gggtgacttt tcaatgaaat ccagccttcc
     1141 atagtgttag atgtttctat tcattcagca gatataattt ctttaatata attctgctca
     1201 aagatttcat tctgacacta cattgatata atttgtaatg tgtta
//
LOCUS       NM_001004713            5984 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 1 subfamily I member 1
            (OR1I1), mRNA.
ACCESSION   NM_001004713
VERSION     NM_001004713.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5984)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5984)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr
            M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano
            A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin
            E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D,
            Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M,
            Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J,
            Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou
            Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J,
            Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP,
            Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers
            S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V,
            Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J,
            Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M,
            Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar
            DS, Myers RM, Rubin EM and Lucas SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
REFERENCE   3  (bases 1 to 5984)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000641398.1/ ENSP00000493393.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004699.1 and AC004794.1.
            On Aug 7, 2020 this sequence version replaced NM_001004713.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5984
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.12"
     gene            1..5984
                     /gene="OR1I1"
                     /gene_synonym="OR19-20; OR1I1P; OR1I1Q"
                     /note="olfactory receptor family 1 subfamily I member 1"
                     /db_xref="GeneID:126370"
                     /db_xref="HGNC:HGNC:8207"
     misc_feature    23..25
                     /gene="OR1I1"
                     /gene_synonym="OR19-20; OR1I1P; OR1I1Q"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MNPSHRHQANPSDHSHRPY"
     CDS             80..1147
                     /gene="OR1I1"
                     /gene_synonym="OR19-20; OR1I1P; OR1I1Q"
                     /note="olfactory receptor 19-20"
                     /codon_start=1
                     /product="olfactory receptor 1I1"
                     /protein_id="NP_001004713.1"
                     /db_xref="CCDS:CCDS32937.1"
                     /db_xref="GeneID:126370"
                     /db_xref="HGNC:HGNC:8207"
                     /translation="MEPEKQTEISEFFLQGLSEKPEHQTLLFTMFLSTYLVTIIGNALI
                     ILAIITDSHLHTPMYFFLFNLSLVDTLLSSTTVPKMLANIQAQSRAIPFVGCLTQMYAF
                     HLFGTMDSFLLAVMAIDRFVAIVHPQRYLVLMCSPVCGLLLGASWMITNLQSLIHTCLM
                     AQLTFCAGSEISHFFCDLMPLLKLSGSDTHTNELVIFAFGIVVGTSPFSCILLSYIRIF
                     WTVFKIPSTRGKWKAFSTCGLHLTVVSLSYGTIFAVYLQPTSPSSSQKDKAAALMCGVF
                     IPMLNPFIYSIRNKDMKAALGKLIGKVAVPCPRPEQLLDVYHVPGSLLAARDTEMHPIP
                     YPGGVQSLAGNRDME"
     misc_feature    155..226
                     /gene="OR1I1"
                     /gene_synonym="OR19-20; OR1I1P; OR1I1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (O60431.1);
                     transmembrane region"
     misc_feature    251..316
                     /gene="OR1I1"
                     /gene_synonym="OR19-20; OR1I1P; OR1I1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (O60431.1);
                     transmembrane region"
     misc_feature    380..439
                     /gene="OR1I1"
                     /gene_synonym="OR19-20; OR1I1P; OR1I1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (O60431.1);
                     transmembrane region"
     misc_feature    497..553
                     /gene="OR1I1"
                     /gene_synonym="OR19-20; OR1I1P; OR1I1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (O60431.1);
                     transmembrane region"
     misc_feature    665..736
                     /gene="OR1I1"
                     /gene_synonym="OR19-20; OR1I1P; OR1I1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (O60431.1);
                     transmembrane region"
     misc_feature    788..856
                     /gene="OR1I1"
                     /gene_synonym="OR19-20; OR1I1P; OR1I1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (O60431.1);
                     transmembrane region"
     misc_feature    896..955
                     /gene="OR1I1"
                     /gene_synonym="OR19-20; OR1I1P; OR1I1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (O60431.1);
                     transmembrane region"
ORIGIN
        1 ctgggggcgg gggggtacac atatgaatcc ttcccataga catcaggcta accccagcga
       61 tcacagtcac agaccataca tggaaccaga aaagcaaacc gaaatctcag aattcttcct
      121 ccagggactc tcagaaaagc cagagcatca gaccctcctc ttcacaatgt tcctctccac
      181 atacctggtc accatcattg gaaatgccct cattatcctg gccatcatca cggactctca
      241 cctccacaca cccatgtact tctttctctt caacctctca ctcgttgaca ccctattatc
      301 ctccaccacc gtccccaaga tgctagcgaa catccaggct cagagcagag ccatcccctt
      361 tgtgggctgc ctcacccaga tgtatgcctt ccacctgttc gggaccatgg acagctttct
      421 cctggcagta atggccatcg accgcttcgt ggccattgtc cacccacagc gttacttggt
      481 tctcatgtgc tcccctgtct gtgggctgct gctgggagca tcatggatga tcaccaacct
      541 ccagtctctc atacacacct gcctcatggc tcaactgacc ttctgcgccg gctctgaaat
      601 ctcccacttc ttctgtgacc tcatgcccct gctgaagctc tccggctcag acacgcacac
      661 caacgagctg gtgatctttg cttttggcat tgtcgtgggc accagcccat tctcctgcat
      721 ccttctctcg tacatccgca ttttctggac agtctttaag atcccttcta ctcggggcaa
      781 gtggaaagcc ttctccacct gtggcttaca cctcactgtg gtgtcactgt cctatgggac
      841 catctttgct gtgtacttac agcccacatc ccccagctcc tcccagaagg acaaggcagc
      901 cgccctaatg tgtggggtgt tcatccccat gctcaacccc tttatctaca gcatacggaa
      961 caaggatatg aaggcagccc tggggaagct catcggcaaa gtggccgtcc cctgtcctag
     1021 gccagaacag ttattggatg tttatcatgt tccaggatca ctgttggctg ctagggacac
     1081 agagatgcat cccatcccct accctggagg agttcagagt ctagctggga acagagacat
     1141 ggaataaatc cttccagtac aacgtgataa atgtgtcata aagagatgaa caaagtgtat
     1201 gagcacccaa aggaaaggtg tgcattttcc ccaggattta tcttccccaa aaagatcaga
     1261 atagcaagga tcaaactggc ctgaaattag ccctcctgga ggatcagcct tttaggattg
     1321 ctatgtgaat aagagtagtt gaaaacaaga gacgtagcta cactcatttt agtattgaca
     1381 aaggccaggt gtggaagctc aagcctgtga tcccagcatt ttgggaggcc aaggtggaag
     1441 gatcacttga ggccaggagt ttgagaccag cctgggcaac atacagagac cctatctcca
     1501 cacacacaca caaaatcact ttagcaagac atggtggtat acgcctgtag tctcagctaa
     1561 tcaggaggct gaggcaggca gatcatttga gcccaggagt tcaaggttgc agtgagctat
     1621 gactgcacca ctgcacttca gcagtttggg aaactgagca agatctgtca ctcataggta
     1681 gatagataga tagatagata gatagataga tagatagata gatagacaga cagatagata
     1741 gagaggataa gataagatag gtagataggg tggatagata agatatgtag atagatagat
     1801 agatagatag atagatagat agatagatag atagatatac agatagatac atagatagat
     1861 aggatagata ggtaggtagg taggtaggtc aaccgatcga tagatctatc tattgacaga
     1921 cagatagatg attgattgat agatagatca tataagtaga tagatgatag atagatagat
     1981 agatagatag atagatgaga taggtaggta ggtcagtcga tcgattgatc aatcgatcaa
     2041 cagatagatg atagatagat ggatggatag atagagatag aggaggtagg tagatagata
     2101 gatagataga taggtagata cagacagccc atgtattagc cagtgtttcc taagtgttgt
     2161 ggaagaactt tgaaaatatt tgcaagtgag attagctcac gtgctgttcg cttagtcagc
     2221 cagcaagcct cagcctcctg gggggtcttg agacctccac ttgtaactat gactgtggtt
     2281 ggggcttact ttctcaattc ccaacaggct tcctgtctcc ccacaacccc cagtcaaggg
     2341 gactctgatg cagacggtcc atcaatcgta gtttgggaac acagacccta gcctagctcc
     2401 aaaatctatg tgtttcctgt gacattcatc gcctgactct gaacccagta tgattctaca
     2461 cgcagggtca gccacagcag atcaggtggc ccggggcact taaaaagtta gtgttatggg
     2521 ttgaactgtg gctcccaaaa aaagatacgt gggaggccag gcgcagtggc tcacacctgt
     2581 aaactctggc actttgggag gttgagtagg gagaatcatt tgaagctagg agttcaggac
     2641 cagcctgaac aacatagtga gatctcatcc ctacaaaaaa taaaaatgaa aaaagaaaaa
     2701 attacctggg tgtggtggtg tgcacctgtc atcttagtta ctcgggaggc tgagacagga
     2761 ggacctcttg agccaaggag gtcgaggctg catgagctat gttcctgcca ctgcactcca
     2821 gcctgggaaa cagagcaagg ccctgtctgc aaaagtaata ataataaaat aaaaaagata
     2881 tgttgaagtc ctaaccccaa ggacctcaga atgtgaccat atttgaagat agggtgttta
     2941 cagaggtcat tagattacag taaggtcatt aggttggtcc ctaatctgat acgactggcg
     3001 tccttatgaa aaggggagat ttggacacag gcacccacac acatggagac cgccacatga
     3061 agatggaggc agagattggg gtgatgctcc tacaagccaa ggaatgccag ggactgcctg
     3121 cagaccacca gaagccagga gaggcgtgga acaggctatc cctctcagcc ctcagaagga
     3181 accaaggaat caaagctgct gacaactgat cttttttttt tttttttttt tttgagacgg
     3241 agtcttgctc tgtcatcccg gctggatgca gtggcatgat tttggctcac tgcaacctcc
     3301 acctcccagg ttcaagcaat tctcctgcct cagcctccca agtagctggg attacaggca
     3361 cccaccacca cgcccagcta attttgtgtt tttagtagag atgggatttc actatgttgg
     3421 ccagactggt ctcaaactcc tggcctccag tgatctgccc acctcagcct cccaaagtgc
     3481 tgggattaca agcgtgggcc actgcacctg gcccaacacc ttgatctcgg actcttaacc
     3541 tccagaactg taagacaaca aatttctatt gtttaagtca cctagttcat ggtaattttt
     3601 aaattttttt ttcttttaga gacagacagg atctactgtg tcacccaggc tggagtacag
     3661 tggtgcaatc atagctaaag tgcaacctca cctcaaactc ctgggctcaa gcaatcctcc
     3721 tgcctcagcc tcctgagtag ttgggactac aggcctatgc cactgcaatc agctatatat
     3781 atttgtagag acagggtctc actatgttgc ccaggctggt ctcaaactcc cggcctcaag
     3841 agatctgccc tcctcggctt cacaaagtgc tgggattgca ggtgtaaacc accacactcg
     3901 gcctgatttg tggtactttg ttgcaacatt gctagaaaac aaatgcagtt agtttaagaa
     3961 atgtcagcaa cctacaaaac ctacaaagtg tcccagtaca tcctctcaag tttacaattg
     4021 accatgtgtt ctggccaagg gaccctgggc tagaactgga gaaaaggatg aaggatttag
     4081 attgcatgga ttcacttact gggtatcagc atgatgacaa taatgatgat gacaaccgag
     4141 atttattatc tgaacaatgc taactccttt atatgcacaa tctcaataag tgttaagcaa
     4201 cacccctaca aggtaggtgc agaagtaatt gtggttttgc cactgaaagt aacagcaggc
     4261 tgcgcatggt ggctcacacc tgtattccca gcactttggg aggccgaggc gggcagatca
     4321 caaggtcagt agatcgagac catcctgacc aacatggtga aaccccctct ctactaaaaa
     4381 tacgaaaatt aggccgggca cagtggctca tgcctgtaat cccagaactt tgggaggctg
     4441 aggtgggcgg atcatgaggt caggagatca agaccatcct ggctaacatg gtgaaacccc
     4501 atctctacta aaaatacaaa aaattagccg gacatgttgg cgggcacctg tagtcccagc
     4561 tactcgggag gctgaggcag gagaatggcc tgaacccggg aggcggagct tgcagtgagc
     4621 caaggccacg ccactgcacc ccagcctggg tgacagagcg agactcctcc tcaatttaaa
     4681 aaaaaataca aaacttagcc aggcgtggtg gcccacacct gtagtcccag ctacttggga
     4741 ggctgaggca ggagaatggc gtcaacccgg gaggcggagt ttgcgtgagc cgagatcgcc
     4801 ccactgcact ccagcctggg tgacagagcg agactctgtc tcaaaaaaaa aaaaaaaaaa
     4861 aaaaaaaagt ttgtaattta aaagtttgag catcactggg ctagatgggg gtcctgtaga
     4921 taaccgggac ccaaataggc tttaggtaca gagatacagg agaaccagat ttggggtgcc
     4981 gctctagcca ctgtgtccag gagggaacct tcccaaccgc cctaaaagct ctgaaaacta
     5041 cagttagaga agtggccact aggtggcaat aatgtcattt cacaaattgg atttaaaacg
     5101 cttttttttt tttttttttt ttttggtttt tggttgtttt ttttttttcc ccggaaactt
     5161 gtattctagc tgtgaactgg cccaggtcca tggcccttag gtgtaatctc cccctggaag
     5221 ggcacaacag gtgcaaagtt tccatgatga gaaggagcct gtgttgttta aagaaatcac
     5281 ggagactggt gtggcctgag cccagagtga cagggaagct gggtttgcag ggggcccgtg
     5341 gagggcactg ggagtaacac ggtgtgtgga ccacggggag tgggaccatg acaaggttta
     5401 aggaggatag ggggtggggc tgtgcttcag aacgaacctg ccagttatcc atgccataga
     5461 tctggagtca gcaaactttt tctgtcaagg tccaggtcgt caatattgtc agctttaggg
     5521 accttaccat ctccgttgca atgactgaac tctgctgctg tctggcgaaa gcagccatag
     5581 atgagacatc aacgaatggg cttggctgtg ttccactaaa actttgttta taaacacaga
     5641 agcttccatt tcatatcata gtacatgtca taccttgtag cctttgggtt tgttttcaac
     5701 cacttttaaa atgttaaaac tactctaggc caggtgcatt cactcatgcc tgtaatccca
     5761 gcactttgag aggccaaggg aggaggattg cttgaagcca ggagttcgag actggagtgg
     5821 gcaacatagt gagacctccc ccatctctac aaaaattttt taattagctg ggcatggtgg
     5881 tgcatgcctg tagtctcagc tactcaggag gctgaggaag gaggatcact taagcccagg
     5941 aggtcaaggc tgcagtgagc tatgattgca ccaccgcact ccag
//
LOCUS       NM_001004714            5684 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily K member 13
            (OR4K13), transcript variant 1, mRNA.
ACCESSION   NM_001004714
VERSION     NM_001004714.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5684)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641904.1/ ENSP00000492930.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL359218.4.
            On Aug 4, 2020 this sequence version replaced NM_001004714.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..5684
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..5684
                     /gene="OR4K13"
                     /gene_synonym="OR14-27"
                     /note="olfactory receptor family 4 subfamily K member 13"
                     /db_xref="GeneID:390433"
                     /db_xref="HGNC:HGNC:15351"
     misc_feature    298..300
                     /gene="OR4K13"
                     /gene_synonym="OR14-27"
                     /note="upstream in-frame stop codon"
     CDS             325..1239
                     /gene="OR4K13"
                     /gene_synonym="OR14-27"
                     /note="olfactory receptor OR14-27"
                     /codon_start=1
                     /product="olfactory receptor 4K13"
                     /protein_id="NP_001004714.1"
                     /db_xref="CCDS:CCDS32028.1"
                     /db_xref="GeneID:390433"
                     /db_xref="HGNC:HGNC:15351"
                     /translation="MERANHSVVSEFILLGLSKSQNLQILFFLGFSVVFVGIVLGNLLI
                     LVTVTFDSLLHTPMYFLLSNLSCIDMILASFATPKMIVDFLRERKTISWWGCYSQMFFM
                     HLLGGSEMMLLVAMAIDRYVAICKPLHYMTIMSPRVLTGLLLSSYAVGFVHSSSQMAFM
                     LTLPFCGPNVIDSFFCDLPLVIKLACKDTYILQLLVIADSGLLSLVCFLLLLVSYGVII
                     FSVRYRAASRSSKAFSTLSAHITVVTLFFAPCVFIYVWPFSRYSVDKILSVFYTIFTPL
                     LNPIIYTLRNQEVKAAIKKRLCI"
     misc_feature    337..339
                     /gene="OR4K13"
                     /gene_synonym="OR14-27"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH42.1); glycosylation site"
     misc_feature    400..471
                     /gene="OR4K13"
                     /gene_synonym="OR14-27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH42.1);
                     transmembrane region"
     misc_feature    496..561
                     /gene="OR4K13"
                     /gene_synonym="OR14-27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH42.1);
                     transmembrane region"
     misc_feature    625..684
                     /gene="OR4K13"
                     /gene_synonym="OR14-27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH42.1);
                     transmembrane region"
     misc_feature    742..798
                     /gene="OR4K13"
                     /gene_synonym="OR14-27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH42.1);
                     transmembrane region"
     misc_feature    910..981
                     /gene="OR4K13"
                     /gene_synonym="OR14-27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH42.1);
                     transmembrane region"
     misc_feature    1030..1098
                     /gene="OR4K13"
                     /gene_synonym="OR14-27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH42.1);
                     transmembrane region"
     misc_feature    1132..1191
                     /gene="OR4K13"
                     /gene_synonym="OR14-27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH42.1);
                     transmembrane region"
ORIGIN
        1 gtaaattgca gataactgat ggggatacag gaaaaggaga taaaaggcca ttcctgggat
       61 tcacgtacga cgccatcacg aaagtttttt tcccctgtct taaacttata ttctgaattc
      121 tactgactat ttgggatact tctctgggcc attagtaaaa tcactgactg acaaaattcc
      181 acaaaagtaa gggtccttgt aagttcaagt gccttgactg agtaccaaat gtggacatca
      241 acatgaacat ttctttccaa tatgcatcat ttccctaccc cttattctca cttattttga
      301 tcattatggg ataaagttga cgatatggaa agagcaaacc attcagtggt atcggaattt
      361 attttgttgg gactttccaa atctcaaaat cttcagattt tattcttctt gggattctct
      421 gtggtcttcg tggggattgt gttaggaaac ctgctcatct tggtgactgt gacctttgat
      481 tcgctccttc acacaccaat gtattttctg cttagcaacc tctcctgcat tgatatgatc
      541 ctggcttctt ttgctacccc taagatgatt gtagatttcc tccgagaacg taagaccatc
      601 tcatggtggg gatgttattc ccagatgttc tttatgcacc tcctgggtgg gagtgagatg
      661 atgttgcttg tagccatggc aatagacagg tatgttgcca tatgcaaacc cctccattac
      721 atgaccatca tgagcccacg ggtgctcact gggctactgt tatcctccta tgcagttgga
      781 tttgtgcact catctagtca aatggctttc atgttgactt tgcccttctg tggtcccaat
      841 gttatagaca gctttttctg tgaccttccc cttgtgatta aacttgcctg caaggacacc
      901 tacatcctac agctcctggt cattgctgac agtgggctcc tgtcactggt ctgcttcctc
      961 ctcttgcttg tctcctatgg agtcataata ttctcagtta ggtaccgtgc tgctagtcga
     1021 tcctctaagg ctttctccac tctctcagct cacatcacag ttgtgactct gttctttgct
     1081 ccgtgtgtct ttatctacgt ctggcccttc agcagatact cggtagataa aattctttct
     1141 gtgttttaca caattttcac acctctctta aatcctatta tttatacatt aagaaatcaa
     1201 gaggtaaaag cagccattaa aaaaagactc tgcatataaa tttaaagcat actttttaga
     1261 tgagactttt gaagagacac tctcttgttt gtttgaacat ttaagaaact cgtttttaat
     1321 gtatcaggtt cgtgcaaaag tcattgcggt ttttgccatt aaagtaaatg acaaaattaa
     1381 agtaatggca aaaaccacta taacttgtgt accagctaac agttcaagtt ccatatgagg
     1441 aaatagtaga tgtaattgtt aaaaagcaaa cacctttttg tgatctttta tggtcaaaca
     1501 cataatatct acagtttggc ttgtatacat ttaaatccca cctttatcag tttctctggt
     1561 gcaaatttga agaaaataaa taagttccct gtgatttagt tttttcgtct atacaacctt
     1621 gtttatatgc atctttcatt attattttag catgctctta aacctcagaa aacacattat
     1681 tattgttagg ttttttgttg ttgttattgg taatctatgt ttagagaaag cacacagatg
     1741 acatctcatc acggttattt atccaagtgc cttacaggct agaaaactgc atgttctggg
     1801 taatccctga ttagtgtgta ttaaattata ctaagttgtt ttccataaac acagtgtgtt
     1861 caccattctt cacatatttt gtgagcctac agaatgccag aagatatagc caggccttca
     1921 aggaacttac agcctatgga tagatcgagc aaactaaatt ggcagttgtt ccatggcacg
     1981 aacagcactg ttacatgatg gacagggtgc tttgagagtg caggaatggc atctcaatca
     2041 gggcagggca ggaaggtttc cacttatagt tagcatcagc tagatggaaa agaaagacat
     2101 tccacgagaa agaaatagta tgttgagaat gcatagaagc atgacacagt ggagaaccta
     2161 tacataattt cattgagctg ggtcatgggc tatgatgttg agagatgaga tagagaggta
     2221 ggtcaaatgt agtctgatca tataatagaa aatataggac actctttgga attcaaaact
     2281 gtgtcatgct gaaatttaaa agagagacag gaaggaaaaa aagtaagcat agaccattcc
     2341 tgtcccaact tgtacattgt actgcttcta ttccaagttt atctccccct tcttagctct
     2401 gttcatattt ctctttgcaa tctaggcaac taggcctgta actgacttga aggctaaagc
     2461 aaatttaagg caactgggta tgggagaaga tgtctactgt ctttcaactt cagcataaat
     2521 ccaaaaagaa ctttatgcct tttattggat atattatacc tagtatccag aaaagccatt
     2581 ccagagacag aagataaaac attgagtact aggtctctaa catgttattt tttagatcat
     2641 ttgttacata aagggcacag tcacatcagc cttagttgtt tcatactgag caaccaattt
     2701 tatggagaaa acattttgtg tacaagttga attattgtga ccaaggatcc cagcctcaaa
     2761 atgcattttc aaactttttt tttctttctt tctgaatctc agaatgtagc cttgtgttgt
     2821 aagactttgt ctccctttcc caccaggtac attcatacac agtgtttctt atctaattaa
     2881 ggacttgctt agaaatccta ggggccgatt ttgaaacaaa caaggcaggg aaacctggct
     2941 gcagaatcct cccttgagag gggaattact tacagttaac ccaccactac caggccaaag
     3001 tcaggaaaag gcaaatcagg cctcaggaca gaccatcact caagataacc ttcagaacaa
     3061 aacacgcaga cctgcacgtt cctgcactat tcccacatat ttcccatatc ttttccgtct
     3121 taaactcctt tacttagccc ccaaacgggg aatggtctgt taaaggcatg agcctggcca
     3181 tcccccacct gcttgcattt gaataaaatt gctttccttt taccacacct tgctgcactt
     3241 gttttcagcc tctgagcggg gaggtgggca tgggtgggtg tgttgggggc tcggggtggg
     3301 gggaggcggg ggagacttca gctggttata ttttaagctg gttatattat atctaactag
     3361 aaatagctct tttctgaaca catactatga aaatacccat aggtttaata taatctagag
     3421 ttttgttttt aaaaggctat tattgattgg ttgatgtgac tgacaatttg ttgagcaaat
     3481 tgtcacgaat ttgtgatata aattatttgt aagttattta tgtatttctt atgtcaagaa
     3541 aaaagctacc aactactatt atgtatttct tatgccagag aaagctacta actactcaat
     3601 atttttccca aataatttag ctaattttca aaacagtatt atttgaaaaa taatctaccc
     3661 tgtccccttg ttatgtgaaa tttgtgaact gtctttatta gaaggagtta ttttttccct
     3721 ctcccaacat gctagctact atcaagcata taatacagaa accctcaccc tgacagccag
     3781 tagaggcacc gccctccttc tgcctgccat tcacttgctc tccttctaag cacgtgatgt
     3841 gatttataga tgactgaaat ttggaaacga gactgagcat gaggttctcg gcgttttaca
     3901 gtattgctgt ttcagaggag ccgaggcaca cagttctaaa ccccagttaa ggggtagcac
     3961 ctgttttcca tgggcaaatt tgttaacacc tcaaactgtc ttcctgtcag ggtcctctgc
     4021 tcttggagga atgtgtaatt tattttattt atttatttat ttgagacgga gtatcactct
     4081 gttgcccagg ctggagtgca gtggcgcaat ctctgctcac cgcaacctcc gcctcccgag
     4141 ttcaagtgat tctcctctct cagccccctg agtagctggg attacaggcg cccaccactg
     4201 cgcctggctc atttttgtat ttttagtaga gacagggttt gggcatgttg gccagggtag
     4261 tctcgaactc ctgacattag gtaatccact cacgttggcc tcccaaagtg ctgggattac
     4321 aggcgtgagc cactgtgcct agccagaatg tgcactttag aattatcctt gtctctgccc
     4381 agctaaatgt ttgttctgca aactctctat ttaaggggat cccagggtta aaattaaggg
     4441 aaagtagtag gaagactctt ggggttttaa gtccagtgca actttaccag taataatact
     4501 gatatttgtc tcttcctatt cacaattcta cctatgaatt tgttcaggac tcacaaggga
     4561 gaagggaaga ttgacacttc agagaaccct acaatcaatt catagtacaa atattaagct
     4621 ttttgtttca tttttcaagt acagtttaca tatagaaaaa atgactcttt agtgtatggt
     4681 tttgtgagct tttatagcaa tttatttttt attattttaa ttttttaaaa tttattttta
     4741 attattatga atatataata gttgcacata tttatgaggt actggagatg ttttgatgca
     4801 agcaaagaat gtataatgaa caattcaggg taattggctg gattgttgac aaatgcccat
     4861 agttatataa ttatcaaatc tcagagatag aacagtttca tcaacccaaa aatgctcctg
     4921 tcccccacag tagtcacctc ctccttccca tttcctgtcc ttgacagtag ccatctgact
     4981 gtgctcttag agtttgcttt ttcaagattg tcatataggt agaatcatac agcaaatagc
     5041 ctgttgaggg tggctttttt cacttggcgc aatgtcttct gagattagtt cagtagcaag
     5101 ctgatttaat taatgtaaat ctatattaca ttttattatt ttattttatt tgtttttttg
     5161 agatggagtc ttgccctgtc acccaggctg tagtgcagtg gctcaatttt ggctcactgc
     5221 aacctccacc tccccagttc aagcaattct cctgcctcag cctcccaagt agctgggatt
     5281 gcaggtgtgt gccaccattc ctggctaatt tttgtatttt tggtagagac aaagttttgt
     5341 catattggcc aggctggtct cgaactcctg acctcaagtg gtccacccac ctcaggctcc
     5401 caaaatgctg ggattacagg cactgtgagc cactgtgcct ggcctatatt acattttaat
     5461 atctacccat ataagtactc ccgttactat tcttcctcaa actatcttcg tttgtgtcat
     5521 tcgattcttc atttacgtta actagtgtga ttttaccaaa taatatgaac actatatctt
     5581 tataactgca ttaaccaaaa cattgtttca gggataaata tatattggta ttgaccacat
     5641 ttgactttcc tatcctagaa cgtggtttaa tttttaactt attt
//
LOCUS       NM_001004715            4886 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily K member 17
            (OR4K17), mRNA.
ACCESSION   NM_001004715
VERSION     NM_001004715.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4886)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000641386.2/ ENSP00000493449.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL163152.4.
            On Feb 25, 2021 this sequence version replaced NM_001004715.4.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..4886
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..4886
                     /gene="OR4K17"
                     /gene_synonym="OR14-29"
                     /note="olfactory receptor family 4 subfamily K member 17"
                     /db_xref="GeneID:390436"
                     /db_xref="HGNC:HGNC:15355"
     misc_feature    148..150
                     /gene="OR4K17"
                     /gene_synonym="OR14-29"
                     /note="upstream in-frame stop codon"
     misc_feature    178..180
                     /gene="OR4K17"
                     /gene_synonym="OR14-29"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MEA"
     CDS             187..1125
                     /gene="OR4K17"
                     /gene_synonym="OR14-29"
                     /note="olfactory receptor OR14-29"
                     /codon_start=1
                     /product="olfactory receptor 4K17"
                     /protein_id="NP_001004715.3"
                     /db_xref="CCDS:CCDS32030.2"
                     /db_xref="GeneID:390436"
                     /db_xref="HGNC:HGNC:15355"
                     /translation="MKLLNQSQVSEFILLGLTSSQDVEFLLFALFSVIYVVTVLGNLLI
                     IVTVFNTPNLNTPMYFLLGNLSFVDMTLASFATPKVILNLLKKQKVISFAGCFTQIFLL
                     HLLGGVEMVLLVSMAFDRYVAICKPLHYMTIMNKKVCVLLVVTSWLLGLLHSGFQIPFA
                     VNLPFCGPNVVDSIFCDLPLVTKLACIDIYFVQVVIVANSGIISLSCFIILLISYSLIL
                     ITIKNHSPTGQSKARSTLTAHITVVILFFGPCIFIYIWPFGNHSVDKFLAVFYTIITPI
                     LNPIIYTLRNKEMKISMKKLWRAFVNSREDT"
ORIGIN
        1 cctaattcta agagagacgg tattaggaac tcccctgatt ggagtctaga tactttagtg
       61 acttgtttct tctatggaac tataagttga gaaggtgcat gcccttctcg atattgtccc
      121 ctctgaaccc atggccctga cttcttctga actggtcatc caagagcgag ctgtaggatg
      181 gaggccatga aactattaaa tcaatctcaa gtgtcagaat tcattttgct gggactgacc
      241 agctcccagg atgtagagtt tcttctcttt gccctcttct cggttatcta tgtggtcaca
      301 gttttgggta accttcttat tatagtcaca gtgtttaaca cccctaacct gaatactccc
      361 atgtattttc tccttggtaa tctctctttt gtagatatga cccttgcttc ttttgccacc
      421 cctaaggtga ttctgaactt gttaaaaaag cagaaggtaa tttcttttgc tgggtgcttc
      481 actcagatat ttctccttca cttactgggt ggggttgaaa tggtactgtt ggtctccatg
      541 gcttttgaca gatatgtggc catttgtaag cccctacact acatgaccat catgaacaag
      601 aaggtatgtg ttttgcttgt agtgacctca tggctcttgg gtctccttca ctcagggttt
      661 cagataccat ttgctgtgaa cttgcccttt tgtggtccca atgtggtaga cagcattttt
      721 tgtgacctcc ctttggttac taagcttgcc tgtatagaca tatattttgt acaggtagtc
      781 attgttgcca acagtggcat aatctccctg agctgtttca ttattttgct tatctcctac
      841 agtctgatcc tcataaccat taagaaccac tctcctactg ggcaatctaa agcccgttcc
      901 actttgactg ctcacatcac agtggtgatt ctcttctttg gcccatgcat ctttatctac
      961 atttggccct tcggcaacca ctctgtagat aagttccttg ctgtgtttta taccatcatc
     1021 actcctatct tgaatccaat tatctatact ctgagaaaca aagaaatgaa gatatccatg
     1081 aaaaaactct ggagagcttt tgtgaattct agagaagata cttagattaa aaatataatg
     1141 gtagaggccg ggcatggtgg ctgatgcctg taatccccac actttgggag gaatatcagg
     1201 ggaaccagcc cccaatattt caacataggt tcttttctat tttccctaag tgttgactgg
     1261 tctgagaaat aaagggaaag aatacaaaag agagaaattt taaagctggg tgtccagggg
     1321 agacatcaca tgtcagcggg ttccgtgatg ccccccaagc tgcaaaacca gcaagttttt
     1381 attatggatt tcaaaaggga ggcagtgtac gaatagggtg tgggtcacag agatcacatg
     1441 catcacaagg caataaaata tcacaaggca aatggggaca gagcaagatc acaggaccag
     1501 ggtgaaatta acattgctaa tgaagtttta tgccccactg ggcactcatt gccattgata
     1561 acatcttatc aggagacagg gtttgagagc ggacaaccgg tctgactaaa atttactagg
     1621 caggaatttc ctcaccctaa taggcctggg gacactacag gagactgggg cttatttcat
     1681 cccttatcta cagccgtgta agacagacat tgccagagcg gccattttag agacctcccc
     1741 ctaggaatgc attctccttc tcagggttat tccttgctga gaaaaagaat tcagcgatat
     1801 ttctcctatt cacttttgta agaagagaaa tatgactctg ttccacccag ctcccaggca
     1861 gtcagaccta atggttatct ctcttgttcc ctgaacatcg ctgttatcct gttctttttt
     1921 caaagtgccc agatttcata ttgtttaaac acacatgctt tatgaacaat ttgtgccatt
     1981 aacataatca tcacagggtc ctgaggcaac atacatcctc agcttaagaa gatgatggga
     2041 ttaagagatt aaagtaaaga caggcatagg aaatcacaag agtattgatt ggggaagtga
     2101 taaatgtcca tgaaattttc acaatttatg ttcagagatt gtagtaaaga caggcatgag
     2161 aaattataca aatattaatt tggggaacta ataaatgtcc atgaaatctt caaaatttat
     2221 gttcttctgt cacggcttca gcaggtccct ctgttcgggg tccctgactt cccgcaacag
     2281 agccaaggca ggttgccttg gctgacttga ggtcaggagt ttgagaccag cctggccaac
     2341 atggcgaaac cctgcctcta ccaaaaatac aaaaattagc caggcgtggt ggtgcatccc
     2401 tgcaatccca gctattcagg aggctgaggc aggagaattg cttgaaccca ggaggcagag
     2461 gcttcagtga gctgagtttg tgtcactgcc ctccagcctg ggtgacagag tgagagtcca
     2521 tcttaaaata ataataataa tagtagcaga gaaacaataa ttttttatat ttttaaaggt
     2581 ttctcttaag tatagagtta ttagctacac tgagatgaag gcaagtaaaa tgcagtaaga
     2641 ttacagtagt cagtcaagat tatttttaat gcagcaccaa aaataataaa ttattgattt
     2701 ttaaaatgtt gactgagtta taaaaggtgt cagagactca cttgtccttc agaggagctt
     2761 gatagatatg tactttgttt agttgttaca atggcttttg atgtaaatga aataaagtga
     2821 atcctcaaaa tgtctgtcac atttttactg tataattgag ttaaatgatt tggcactcac
     2881 tgtgagatca tgtttggttc tctgtcttct ttacaatatt aatgtctaag tcagcactca
     2941 tatgcagtgt ctcctaagaa accagtaatt cagactttcc atatctacct acactcattt
     3001 ttcttgtagc ttccaaaata agaattcatg aagatacctt tatggttgtt aatattataa
     3061 aatctcactt tcacctcctt gtccccatgt atttcaattc aaaaaaactg tgtgtctgac
     3121 tccaaaaaga aaattataca ttctaggtaa atgaactcta gtcctagaac caagatggtt
     3181 ttcttgtgtg actgtgtgct gagcaccggc tcagccacca tagagaatta gtttctacct
     3241 caaactcaga gccactgcaa ctctgcactt acccatactt ccgtcacaag gtccccagct
     3301 atttcaaaag cacctgcacc ttgcatacca ttatagtttg ggcagtggaa ttcctgggcc
     3361 cagatactgc tgccattact atcccaaacc acagatctat agtacctcca ttcatacctg
     3421 cgcttatggc tccagatcca tggcttcccc tagggtaccc ctcgtcagac atttatgcca
     3481 aaaccaccac aagcagtttc tcaagctgga cccagtgcca agagggattc ctccagccac
     3541 aacatcccca gtgggagaaa aagagataga aaggacttta gcagccctag ccaccaaaga
     3601 ccacaacaat ttttgtcacc acttcaaaca tctacatcat tggctgctga agttccctac
     3661 aatcttcatc aatgccaacc tcagctggag gagctacaca aacacgacac tgctgcacct
     3721 tcacaatagt cagagcagtt gtgttttact caaccaatcc cctcacacct ccatacaggg
     3781 gaagttcttt ctgtactgaa accagcctgt gaagtctgga agagatgact gctccaacaa
     3841 atgcacagaa atctgcttaa gacaacaaga aacaccaaaa accaaaaggg agtatcacca
     3901 tgaaaggaac acaataattt tccagtatct gtctccaaag aaacagagac ctatgaactc
     3961 ccagacaaag acttcacaat aattgtctta aggaagtgca gtaaagtcca agaacataca
     4021 gggaaataat tcaacaaaat caagcaaaca acaaacaaaa aaatggggaa atttgatgaa
     4081 gagattgaaa tagtttttaa aattccagaa atttgtttaa aaataaataa cataaaaata
     4141 tgtaaattgt gacagtaaaa acataaaatg tgtgggggag gtagaataaa agtgtagact
     4201 ttttaaatgc aatcaaagtt aggtatttat tcacttaaaa tagtctatga taaccataag
     4261 atgtgttatg taagccttat ggtaactaca aatgaaaaac ctatagagca tttacaaaaa
     4321 caaaaaaaat aaaaaatcaa agcatatgct ggagaaaata aactatgaat aaatgaagac
     4381 gaaagagaaa gatgaagcaa aagaaaagga agggaacaaa gagtgtaaaa aataaccaga
     4441 aaacaattaa taaaatggag gtactaagca cagtcagttt tctggcatat ccataggttt
     4501 tacattcaca gactcaatca accacagatc aaaactatca aaaataaata aataaataac
     4561 agcacaacaa taaaaataat acaaaatttt aaaacaagta taacaactat ttacatttta
     4621 tttgatatta taagttatct agagttggta taaatcatac aacagaatgc atgtaagttt
     4681 tatgcaaata ctgtgacatt ttgtataagg gacttaagca tctatagatt ttgataatca
     4741 cagggaggtc ttggagtctg ttgcctaaag tcactgaggg atgactctac ttacctacca
     4801 acaattatct ggaatgtgaa tgaattaaat tatctgaaca aaagacacag agtggctaaa
     4861 tgaataaaaa gataaaaccc aactac
//
LOCUS       NM_001004717             939 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily L member 1
            (OR4L1), mRNA.
ACCESSION   NM_001004717
VERSION     NM_001004717.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000315683.1/ ENSP00000319217.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AL359218.4.
            On Sep 19, 2004 this sequence version replaced XM_063310.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..939
                     /gene="OR4L1"
                     /gene_synonym="OR14-28; OR4L2P"
                     /note="olfactory receptor family 4 subfamily L member 1"
                     /db_xref="GeneID:122742"
                     /db_xref="HGNC:HGNC:15356"
     CDS             1..939
                     /gene="OR4L1"
                     /gene_synonym="OR14-28; OR4L2P"
                     /note="olfactory receptor, family 4, subfamily L, member 2
                     pseudogene; olfactory receptor OR14-28; olfactory receptor
                     4L2"
                     /codon_start=1
                     /product="olfactory receptor 4L1"
                     /protein_id="NP_001004717.1"
                     /db_xref="CCDS:CCDS32029.1"
                     /db_xref="GeneID:122742"
                     /db_xref="HGNC:HGNC:15356"
                     /translation="MDLKNGSLVTEFILLGFFGRWELQIFFFVTFSLIYGATVMGNILI
                     MVTVTCRSTLHSPLYFLLGNLSFLDMCLSTATTPKMIIDLLTDHKTISVWGCVTQMFFM
                     HFFGGAEMTLLIIMAFDRYVAICKPLHYRTIMSHKLLKGFAILSWIIGFLHSISQIVLT
                     MNLPFCGHNVINNIFCDLPLVIKLACIETYTLELFVIADSGLLSFTCFILLLVSYIVIL
                     VSVPKKSSHGLSKALSTLSAHIIVVTLFFGPCIFIYVWPFSSLASNKTLAVFYTVITPL
                     LNPSIYTLRNKKMQEAIRKLRFQYVSSAQNF"
     misc_feature    13..15
                     /gene="OR4L1"
                     /gene_synonym="OR14-28; OR4L2P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH43.1); glycosylation site"
     misc_feature    76..147
                     /gene="OR4L1"
                     /gene_synonym="OR14-28; OR4L2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH43.1);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR4L1"
                     /gene_synonym="OR14-28; OR4L2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH43.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR4L1"
                     /gene_synonym="OR14-28; OR4L2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH43.1);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR4L1"
                     /gene_synonym="OR14-28; OR4L2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH43.1);
                     transmembrane region"
     misc_feature    586..657
                     /gene="OR4L1"
                     /gene_synonym="OR14-28; OR4L2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH43.1);
                     transmembrane region"
     misc_feature    706..774
                     /gene="OR4L1"
                     /gene_synonym="OR14-28; OR4L2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH43.1);
                     transmembrane region"
     misc_feature    802..804
                     /gene="OR4L1"
                     /gene_synonym="OR14-28; OR4L2P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH43.1); glycosylation site"
     misc_feature    808..867
                     /gene="OR4L1"
                     /gene_synonym="OR14-28; OR4L2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH43.1);
                     transmembrane region"
ORIGIN
        1 atggatctta aaaatggatc tctagtgacc gagtttattt tactaggatt ttttggacga
       61 tgggaacttc aaattttctt ctttgtgaca ttttccctga tctacggtgc tactgtgatg
      121 ggaaacattc tcattatggt cacagtgaca tgtaggtcaa cccttcattc tcccttgtac
      181 tttctccttg gaaatctctc ttttttggac atgtgtctct ccactgccac aacacccaag
      241 atgatcatag atttgctcac tgaccacaag accatctctg tgtggggctg cgtgacccag
      301 atgttcttca tgcacttctt tgggggtgct gagatgactc ttctgataat catggccttt
      361 gacaggtatg tagccatatg taaacccctg cactatagga caatcatgag ccacaagctg
      421 ctaaaggggt ttgcgatact ttcatggata attggttttt tacactccat aagccagata
      481 gttttaacaa tgaacttgcc tttctgtggc cacaatgtca taaacaacat attttgtgat
      541 cttccccttg tgatcaagct tgcttgcatt gaaacataca ccctggaatt atttgtcatt
      601 gctgacagcg ggctgctctc tttcacctgt ttcatcctct tgcttgtttc ttacattgtc
      661 atcctggtca gtgtaccaaa aaaatcatca catgggctct ccaaggcgct gtccacattg
      721 tctgcccaca tcattgtggt cactctgttc tttggacctt gtatttttat ctatgtttgg
      781 ccattcagta gtttggcaag caataaaact cttgccgtat tttatacagt tatcacaccc
      841 ttactgaatc cgagtattta taccctgaga aataagaaaa tgcaagaggc cataagaaaa
      901 ttacggttcc aatatgttag ttctgcacag aatttctag
//
LOCUS       NM_001004719            1084 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily M member 2
            (OR4M2), mRNA.
ACCESSION   NM_001004719
VERSION     NM_001004719.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1084)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136985.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000614722.3/ ENSP00000483239.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC136985.1 and AC134980.3.
            On Jan 16, 2010 this sequence version replaced NM_001004719.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1084
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q11.2"
     gene            1..1084
                     /gene="OR4M2"
                     /gene_synonym="OR15-3"
                     /note="olfactory receptor family 4 subfamily M member 2"
                     /db_xref="GeneID:390538"
                     /db_xref="HGNC:HGNC:15373"
     misc_feature    87..89
                     /gene="OR4M2"
                     /gene_synonym="OR15-3"
                     /note="upstream in-frame stop codon"
     CDS             99..1040
                     /gene="OR4M2"
                     /gene_synonym="OR15-3"
                     /note="olfactory receptor OR15-3"
                     /codon_start=1
                     /product="olfactory receptor 4M2"
                     /protein_id="NP_001004719.2"
                     /db_xref="CCDS:CCDS32172.1"
                     /db_xref="GeneID:390538"
                     /db_xref="HGNC:HGNC:15373"
                     /translation="METANYTKVTEFVLTGLSQTPEVQLVLFVIFLSFYLFILPGNILI
                     ICTISLDPHLTSPMYFLLANLAFLDIWYSSITAPEMLIDFFVERKIISFDGCIAQLFFL
                     HFAGASEMFLLTVMAFDLYTAICRPLHYATIMNQRLCCILVALSWRGGFIHSIIQVALI
                     VRLPFCGPNELDSYFCDITQVVRIACANTFPEELVMICSSGLISVVCLIALLMSYAFLL
                     ALFKKLSGSGENTNRAMSTCYSHITIVVLMFGPSIYIYARPFDSFSLDKVVSVFNTLIF
                     PLRNPIIYTLRNKEVKAAMRKLVTKYILCKEK"
     misc_feature    111..113
                     /gene="OR4M2"
                     /gene_synonym="OR15-3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGB6.2); glycosylation site"
     misc_feature    174..245
                     /gene="OR4M2"
                     /gene_synonym="OR15-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB6.2);
                     transmembrane region"
     misc_feature    270..335
                     /gene="OR4M2"
                     /gene_synonym="OR15-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB6.2);
                     transmembrane region"
     misc_feature    399..458
                     /gene="OR4M2"
                     /gene_synonym="OR15-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB6.2);
                     transmembrane region"
     misc_feature    516..572
                     /gene="OR4M2"
                     /gene_synonym="OR15-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB6.2);
                     transmembrane region"
     misc_feature    684..755
                     /gene="OR4M2"
                     /gene_synonym="OR15-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB6.2);
                     transmembrane region"
     misc_feature    810..878
                     /gene="OR4M2"
                     /gene_synonym="OR15-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB6.2);
                     transmembrane region"
     misc_feature    912..971
                     /gene="OR4M2"
                     /gene_synonym="OR15-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB6.2);
                     transmembrane region"
ORIGIN
        1 ttttgaaagc agtgatataa ctctaggtaa atgctatgtc tactaattat agtttcttaa
       61 ttttcatagc tatattatga aaagagtaaa ttgaagaaat ggaaactgca aattacacca
      121 aggtgacaga atttgttctc actggcctat cccagactcc agaggtccaa ctagtcctat
      181 ttgttatatt tctatccttc tatttgttca tcctaccagg aaatatcctt atcatttgca
      241 ccatcagtct agaccctcat ctgacctctc ctatgtattt cctgttggct aatctggcct
      301 tccttgatat ttggtactct tccattacag cccctgaaat gctcatagac ttctttgtgg
      361 agaggaagat aatttctttt gatggatgca ttgcacagct cttcttctta cactttgctg
      421 gggcttcgga gatgttcttg ctcacagtga tggcctttga cctctacact gctatctgcc
      481 gacccctcca ctatgctacc atcatgaatc aacgtctctg ctgtatcctg gtggctctct
      541 cctggagggg gggcttcatt cattctatca tacaggtggc tctcattgtt cgacttcctt
      601 tctgtgggcc caatgagtta gacagttact tctgtgacat cacacaggtt gtccggattg
      661 cctgtgccaa caccttccca gaggagttag tgatgatctg tagtagtggt ctgatctctg
      721 tggtgtgttt gattgctctg ttaatgtcct atgccttcct tctggccttg ttcaagaaac
      781 tttcaggctc aggtgagaat accaacaggg ccatgtccac ctgctattcc cacattacca
      841 ttgtggtgct aatgtttggg ccatccatct acatttatgc tcgcccattt gactcgtttt
      901 ccctagataa agtggtgtct gtgttcaata ctttaatatt ccctttacgt aatcccatta
      961 tttacacatt gagaaacaag gaagtaaagg cagccatgag gaagttggtc accaaatata
     1021 ttttgtgtaa agagaagtga aagataaatt atacatttta tagttcccct gaggatcatt
     1081 gtcc
//
LOCUS       NM_001004723            2889 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily N member 2
            (OR4N2), mRNA.
ACCESSION   NM_001004723
VERSION     NM_001004723.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2889)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BM696516.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2147920
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000557677.3/ ENSP00000452022.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL391156.3.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001004723.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a seven-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Mar 2014].
            Sequence Note: The RefSeq transcript was derived from the reference
            genome assembly. The genomic coordinates were determined from
            alignments.
FEATURES             Location/Qualifiers
     source          1..2889
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..2889
                     /gene="OR4N2"
                     /gene_synonym="OR14-13; OR14-8"
                     /note="olfactory receptor family 4 subfamily N member 2"
                     /db_xref="GeneID:390429"
                     /db_xref="HGNC:HGNC:14742"
     misc_feature    34..36
                     /gene="OR4N2"
                     /gene_synonym="OR14-13; OR14-8"
                     /note="upstream in-frame stop codon"
     CDS             85..1008
                     /gene="OR4N2"
                     /gene_synonym="OR14-13; OR14-8"
                     /note="olfactory receptor OR14-13; olfactory receptor
                     OR14-8"
                     /codon_start=1
                     /product="olfactory receptor 4N2"
                     /protein_id="NP_001004723.1"
                     /db_xref="CCDS:CCDS32022.1"
                     /db_xref="GeneID:390429"
                     /db_xref="HGNC:HGNC:14742"
                     /translation="MESENRTVIREFILLGLTQSQDIQLLVFVLVLIFYFIILPGNFLI
                     IFTIKSDPGLTAPLYFFLGNLAFLDASYSFIVAPRMLVDFLSAKKIISYRGCITQLFFL
                     HFLGGGEGLLLVVMAFDRYIAICRPLHYPTVMNPRTCYAMMLALWLGGFVHSIIQVVLI
                     LRLPFCGPNQLDNFFCDVPQVIKLACTDTFVVELLMVFNSGLMTLLCFLGLLASYAVIL
                     CRIRGSSSEAKNKAMSTCITHIIVIFFMFGPGIFIYTRPFRAFPADKVVSLFHTVIFPL
                     LNPVIYTLRNQEVKASMKKVFNKHIA"
     misc_feature    97..99
                     /gene="OR4N2"
                     /gene_synonym="OR14-13; OR14-8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGD1.1); glycosylation site"
     misc_feature    160..231
                     /gene="OR4N2"
                     /gene_synonym="OR14-13; OR14-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD1.1);
                     transmembrane region"
     misc_feature    256..321
                     /gene="OR4N2"
                     /gene_synonym="OR14-13; OR14-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD1.1);
                     transmembrane region"
     misc_feature    385..444
                     /gene="OR4N2"
                     /gene_synonym="OR14-13; OR14-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD1.1);
                     transmembrane region"
     misc_feature    502..558
                     /gene="OR4N2"
                     /gene_synonym="OR14-13; OR14-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD1.1);
                     transmembrane region"
     misc_feature    670..741
                     /gene="OR4N2"
                     /gene_synonym="OR14-13; OR14-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD1.1);
                     transmembrane region"
     misc_feature    790..858
                     /gene="OR4N2"
                     /gene_synonym="OR14-13; OR14-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD1.1);
                     transmembrane region"
     misc_feature    892..951
                     /gene="OR4N2"
                     /gene_synonym="OR14-13; OR14-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD1.1);
                     transmembrane region"
ORIGIN
        1 aggaaaggta ctagctcttc tttatgcatc tggtagaact cagctgtgaa ttcctgtgat
       61 cctgggcttt ttctggccag ggaaatggaa agcgagaaca gaacagtgat aagagaattc
      121 atcctccttg gtctgaccca gtctcaagat attcagctcc tggtctttgt gctagtttta
      181 atattctact tcatcatcct ccctggaaat tttctcatta ttttcaccat aaagtcagac
      241 cctgggctca cagcccccct ctatttcttt ctgggcaact tggccttcct ggatgcatcc
      301 tactccttca ttgtggctcc ccggatgttg gtggacttcc tctctgcgaa gaagataatc
      361 tcctacagag gctgcatcac tcagctcttt ttcttgcact tccttggagg aggggaggga
      421 ttactccttg ttgtgatggc ctttgaccgc tacatcgcca tctgccggcc tctgcactat
      481 cctactgtca tgaaccctag aacctgctat gcaatgatgt tggctctgtg gcttgggggt
      541 tttgtccact ccattatcca ggtggtcctc atcctccgct tgcctttttg tggcccaaac
      601 cagctggaca acttcttctg tgatgtccca caggtcatca agctggcctg caccgacaca
      661 tttgtggtgg agcttctgat ggtcttcaac agtggcctga tgacactcct gtgctttctg
      721 gggcttctgg cctcctatgc agtcattctt tgtcgcatac gagggtcttc ttctgaggca
      781 aaaaacaagg ccatgtccac gtgcatcacc catatcattg ttatattctt catgtttgga
      841 cctggcatct tcatctacac gcgccccttc agggctttcc cagctgacaa ggtggtttct
      901 ctcttccaca cagtgatttt tcctttgttg aatcctgtca tttataccct tcgcaaccag
      961 gaagtgaaag cttccatgaa aaaggtgttt aataagcaca tagcctgaaa aagggcgcaa
     1021 aaaaaaaaag aataaaaata gactgtagaa ttttatctga aattgatttg tttatttcca
     1081 agtactgcaa tcactgagta cctcccattt gtcaggacta ttctgggaac tgaaaaaaga
     1141 aattactgag gcagataagg tccatctgct ctccaagaga tacaacctag taaaaataga
     1201 ccaccattaa ggtagaaaat aaacagcata gtttcaggaa gagatactgc tctgtaaaaa
     1261 ctaaaaagaa aagtgaaatg ataaattgtg actctggatt gggagtaacc aatttgtgtt
     1321 taataatcaa aaaagacctt gaagagctga cgttttggat gatatctgga taaactgaag
     1381 aaggcaaaca tgcaaacatt tgtggttata gtaatctaga cggagggcac aggtagtgca
     1441 aaaactcaaa gatgatgatg aacttggtat atttgaagaa tacaataaag tccatgttac
     1501 ccggaatata gtaatttaat atgaaaatga ttaaagttgg agatactggt agtgtcaaaa
     1561 acatacggtc tacatagtaa atatgagttt tcattttatt acaattacaa taagaagcca
     1621 ttctgtggct ttaagcaaaa gagtgattcc tctactgaag ggtcataaac aacttagcac
     1681 tgtaaactca agattctatg cggatatcaa agacttgaaa aatatcatta agaggaaaat
     1741 attatatttg taagtgcact ttgaaagata ttaaactacc aatttttctt acataaataa
     1801 gcagagagtg gcaaaagaaa gctggttact tttactgaaa aagatcacaa aaacatttta
     1861 cttttttttt ctagagcttc atgattactc ctagcaaatt tttatgactt ttagctgtat
     1921 gtttgacctt attgccaatt gatttcactc taagtttaat aacaacagtc ttttggtaga
     1981 gcaatcagga ttttgtgtca gagacaagaa accattctag ctattttaaa caaaacatca
     2041 tttaatatcg agagttaggt gttcacaaaa tcactggaaa gtctaaaaga gaagactata
     2101 ggctggacgt ccagagatgc cttacagact aacacaggtg accaatgttg tcagggaagt
     2161 tgttcttgct acaatcttag ccatctgttt gtctgaaaaa cactacaatt ttagccatgt
     2221 gcctgggatc aagttgatga tctggaatca ctttggacct aacaaatcgc ccctagtata
     2281 acagaagcct ctcctactgc atccctttaa ctagctgact atatattcaa atctcaaatg
     2341 agtacattaa atgggcagca tccaaaacat ctggaacccc aaatgcaagg gggtcaaaaa
     2401 ttgagtttta aaatatttta tttttgataa tcgccaaagt ttatacttag gaatataaat
     2461 tttgtacatg gtaaaaatat tcagactata gaaaaagtgg tctgaatctt caaataatcc
     2521 ttctctattc tcactctgtt tattgcgttg cttcctgttt tagtgagaaa ggtagcaggt
     2581 gagaattcct taatctccca tcactaccac tatacaacct gcatctgtga ttaagtttcc
     2641 tttaacttct cctgagactg agtgacctga tcctgctcct acagaagtaa acccttccac
     2701 ctgtgcacca gattccatcc ccctcctctc tactaaaggc aattactctg gtaactctcc
     2761 tttccctcac ctataacatg aactttgtcc tccctattgg gtgtaacctt tagcgtgtaa
     2821 ccacatttct tccctcctaa ataaaacctt cttgccacct tttcccctgt ccatgtcact
     2881 tcatgagtc
//
LOCUS       NM_001004724            2187 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily N member 5
            (OR4N5), mRNA.
ACCESSION   NM_001004724
VERSION     NM_001004724.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2187)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641086.1/ ENSP00000493307.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL163152.4.
            On Aug 4, 2020 this sequence version replaced NM_001004724.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2187
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..2187
                     /gene="OR4N5"
                     /note="olfactory receptor family 4 subfamily N member 5"
                     /db_xref="GeneID:390437"
                     /db_xref="HGNC:HGNC:15358"
     misc_feature    443..445
                     /gene="OR4N5"
                     /note="upstream in-frame stop codon"
     CDS             452..1378
                     /gene="OR4N5"
                     /note="olfactory receptor OR14-33"
                     /codon_start=1
                     /product="olfactory receptor 4N5"
                     /protein_id="NP_001004724.1"
                     /db_xref="CCDS:CCDS32031.1"
                     /db_xref="GeneID:390437"
                     /db_xref="HGNC:HGNC:15358"
                     /translation="METQNLTVVTEFILLGLTQSQDAQLLVFVLVLIFYLIILPGNFLI
                     IFTIKSDPGLTAPLYFFLGNLALLDASYSFIVVPRMLVDFLSEKKVISYRSCITQLFFL
                     HFLGAGEMFLLVVMAFDRYIAICRPLHYSTIMNPRACYALSLVLWLGGFIHSIVQVALI
                     LHLPFCGPNQLDNFFCDVPQVIKLACTNTFVVELLMVSNSGLLSLLCFLGLLASYAVIL
                     CRIREHSSEGKSKAISTCTTHIIIIFLMFGPAIFIYTCPFQAFPADKVVSLFHTVIFPL
                     MNPVIYTLRNQEVKASMRKLLSQHMFC"
     misc_feature    464..466
                     /gene="OR4N5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8IXE1.1); glycosylation site"
     misc_feature    527..598
                     /gene="OR4N5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXE1.1);
                     transmembrane region"
     misc_feature    623..688
                     /gene="OR4N5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXE1.1);
                     transmembrane region"
     misc_feature    752..811
                     /gene="OR4N5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXE1.1);
                     transmembrane region"
     misc_feature    869..925
                     /gene="OR4N5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXE1.1);
                     transmembrane region"
     misc_feature    1037..1108
                     /gene="OR4N5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXE1.1);
                     transmembrane region"
     misc_feature    1157..1225
                     /gene="OR4N5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXE1.1);
                     transmembrane region"
     misc_feature    1259..1318
                     /gene="OR4N5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXE1.1);
                     transmembrane region"
ORIGIN
        1 agctaatctc ccttttatca gacagaaaag aatagccact tgtttgagag tagcatttgg
       61 ctcccggcaa gaacaagaag tttgcccctg tgagatccat tgtttggtgc tttttttttt
      121 tcgggaactc attttgtaca gaggaatgcc catctaatgc atatgtgtcc tccatctctg
      181 tgacaaatac aatttgagaa tcaacagaac aaaaggtaca taaatgagga caaaggaaag
      241 aagaaaagtg gattaaagat gttgagtaac atggaatttc atctgttagt taacagaaaa
      301 tagacggaaa tagtagaaaa taaaagcaaa ggaagagtga gagaggctga aactctcagg
      361 tgctccctgt gtcttggaat cctcaacctg gagaagcatg agataactaa ctataattga
      421 acatctggaa tgaataaaag agtgagaaat tatggaaaca cagaacctca cagtggtgac
      481 agaattcatt cttcttggtc tgacccagtc tcaagatgct caacttctgg tctttgtgct
      541 agtcttaatt ttctacctta tcatcctccc tggaaatttc ctcatcattt tcaccataaa
      601 gtcagaccct gggctcacag cccccctcta tttctttctg ggcaacttgg ccttactgga
      661 tgcatcctac tccttcattg tggttcccag gatgttggtg gacttcctct ctgagaagaa
      721 ggtaatctcc tatagaagct gcatcactca gctctttttc ttgcattttc ttggagcggg
      781 agagatgttc ctcctcgttg tgatggcctt tgaccgctac atcgccatct gccggccttt
      841 acactattca accatcatga accctagagc ctgctatgca ttatcgttgg ttctgtggct
      901 tgggggcttt atccattcca ttgtacaagt agcccttatc ctgcacttgc ctttctgtgg
      961 cccaaaccag ctcgataact tcttctgtga tgttccacag gtcatcaagc tggcctgcac
     1021 caataccttt gtggtggagc ttctgatggt ctccaacagt ggcctgctca gcctcctgtg
     1081 cttcctgggc cttctggcct cctatgcagt catcctctgt cgtataaggg agcactcctc
     1141 tgaaggaaag agcaaggcta tttccacatg caccacccat attatcatta tatttctcat
     1201 gtttggacct gctattttca tctacacttg ccccttccag gctttcccag ctgacaaggt
     1261 agtttctctt ttccatactg tcatctttcc tttgatgaac cctgttattt atacgcttcg
     1321 caaccaggag gtgaaagctt ccatgaggaa gttgttaagt caacatatgt tttgctgaat
     1381 agaagaaaga gaaaagcaag aacggagaaa gtccagttga atttagctaa atcatttcct
     1441 cattcatgca ttgaatcagt cagtcattta gcaagtatta taattattaa gtacttccca
     1501 ttttcaggca ctattccagg catatgaatg agacaggtaa gattccaggt ctcctagatt
     1561 tatattcaag gggataaata caggttatta gatttattca aggggataaa tacagtttat
     1621 taaatttgaa aaacaactat agtttcagaa agaaacagtg ttctgtagca agcagaaagt
     1681 ggtattatgc tagagattag ctggggaggt ggtaattacc ttacttttgg ttgttaagtg
     1741 aggcctcaag tggtgtttag ctgaaaccaa tatgattcga aagaaacaac catgcaaata
     1801 tctggggaca gaaattctag gcaaaaaggc tgactagtac aagaatccaa agatcttatg
     1861 agcttgttat atttgatgac cataaaaagg aagagaacag ctgtactata tttagtgaat
     1921 gtgaaaatgg caaaaattga agtcaaagaa tttggtaggg gcaaaattat gtagagcatt
     1981 ttagtcaata agaagttcaa tttattcaga tttcaaaagg agattcttga aagacaataa
     2041 gcaggagagt aactctttaa tgtttcctat ttgacttaag ggaagatcct caagattctg
     2101 attacagaac tatgagtagt aaaatatcat taagtggaaa gtgcgtgctg ctaagtattt
     2161 tttatttatg tcaacactta aaaggtc
//
LOCUS       NM_001004725             930 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily S member 1
            (OR4S1), mRNA.
ACCESSION   NM_001004725
VERSION     NM_001004725.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 930)
  AUTHORS   Manning AK, Hivert MF, Scott RA, Grimsby JL, Bouatia-Naji N, Chen H,
            Rybin D, Liu CT, Bielak LF, Prokopenko I, Amin N, Barnes D, Cadby G,
            Hottenga JJ, Ingelsson E, Jackson AU, Johnson T, Kanoni S, Ladenvall
            C, Lagou V, Lahti J, Lecoeur C, Liu Y, Martinez-Larrad MT, Montasser
            ME, Navarro P, Perry JR, Rasmussen-Torvik LJ, Salo P, Sattar N,
            Shungin D, Strawbridge RJ, Tanaka T, van Duijn CM, An P, de Andrade
            M, Andrews JS, Aspelund T, Atalay M, Aulchenko Y, Balkau B,
            Bandinelli S, Beckmann JS, Beilby JP, Bellis C, Bergman RN, Blangero
            J, Boban M, Boehnke M, Boerwinkle E, Bonnycastle LL, Boomsma DI,
            Borecki IB, Bottcher Y, Bouchard C, Brunner E, Budimir D, Campbell
            H, Carlson O, Chines PS, Clarke R, Collins FS, Corbaton-Anchuelo A,
            Couper D, de Faire U, Dedoussis GV, Deloukas P, Dimitriou M, Egan
            JM, Eiriksdottir G, Erdos MR, Eriksson JG, Eury E, Ferrucci L, Ford
            I, Forouhi NG, Fox CS, Franzosi MG, Franks PW, Frayling TM, Froguel
            P, Galan P, de Geus E, Gigante B, Glazer NL, Goel A, Groop L,
            Gudnason V, Hallmans G, Hamsten A, Hansson O, Harris TB, Hayward C,
            Heath S, Hercberg S, Hicks AA, Hingorani A, Hofman A, Hui J, Hung J,
            Jarvelin MR, Jhun MA, Johnson PC, Jukema JW, Jula A, Kao WH, Kaprio
            J, Kardia SL, Keinanen-Kiukaanniemi S, Kivimaki M, Kolcic I, Kovacs
            P, Kumari M, Kuusisto J, Kyvik KO, Laakso M, Lakka T, Lannfelt L,
            Lathrop GM, Launer LJ, Leander K, Li G, Lind L, Lindstrom J, Lobbens
            S, Loos RJ, Luan J, Lyssenko V, Magi R, Magnusson PK, Marmot M,
            Meneton P, Mohlke KL, Mooser V, Morken MA, Miljkovic I, Narisu N,
            O'Connell J, Ong KK, Oostra BA, Palmer LJ, Palotie A, Pankow JS,
            Peden JF, Pedersen NL, Pehlic M, Peltonen L, Penninx B, Pericic M,
            Perola M, Perusse L, Peyser PA, Polasek O, Pramstaller PP, Province
            MA, Raikkonen K, Rauramaa R, Rehnberg E, Rice K, Rotter JI, Rudan I,
            Ruokonen A, Saaristo T, Sabater-Lleal M, Salomaa V, Savage DB,
            Saxena R, Schwarz P, Seedorf U, Sennblad B, Serrano-Rios M,
            Shuldiner AR, Sijbrands EJ, Siscovick DS, Smit JH, Small KS, Smith
            NL, Smith AV, Stancakova A, Stirrups K, Stumvoll M, Sun YV, Swift
            AJ, Tonjes A, Tuomilehto J, Trompet S, Uitterlinden AG, Uusitupa M,
            Vikstrom M, Vitart V, Vohl MC, Voight BF, Vollenweider P, Waeber G,
            Waterworth DM, Watkins H, Wheeler E, Widen E, Wild SH, Willems SM,
            Willemsen G, Wilson JF, Witteman JC, Wright AF, Yaghootkar H,
            Zelenika D, Zemunik T, Zgaga L, Wareham NJ, McCarthy MI, Barroso I,
            Watanabe RM, Florez JC, Dupuis J, Meigs JB and Langenberg C.
  CONSRTM   DIAbetes Genetics Replication And Meta-analysis (DIAGRAM)
            Consortium; Multiple Tissue Human Expression Resource (MUTHER)
            Consortium
  TITLE     A genome-wide approach accounting for body mass index identifies
            genetic variants influencing fasting glycemic traits and insulin
            resistance
  JOURNAL   Nat Genet 44 (6), 659-669 (2012)
   PUBMED   22581228
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 930)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000319988.1/ ENSP00000321447.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC023080.6.
            On Sep 19, 2004 this sequence version replaced XM_171490.4.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..930
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..930
                     /gene="OR4S1"
                     /gene_synonym="OR11-100"
                     /note="olfactory receptor family 4 subfamily S member 1"
                     /db_xref="GeneID:256148"
                     /db_xref="HGNC:HGNC:14705"
     CDS             1..930
                     /gene="OR4S1"
                     /gene_synonym="OR11-100"
                     /note="olfactory receptor OR11-100"
                     /codon_start=1
                     /product="olfactory receptor 4S1"
                     /protein_id="NP_001004725.1"
                     /db_xref="CCDS:CCDS31488.1"
                     /db_xref="GeneID:256148"
                     /db_xref="HGNC:HGNC:14705"
                     /translation="MGAKNNVTEFVLFGLFESREMQHTCFVVFFLFHVLTVLGNLLVII
                     TINARKTLKSPMYFFLSQLSFADICYPSTTIPKMIADTFVEHKIISFNGCMTQLFSAHF
                     FGGTEIFLLTAMAYDRYVAICRPLHYTAIMDCRKCGLLAGASWLAGFLHSILQTLLTVQ
                     LPFCGPNEIDNFFCDVHPLLKLACADTYMVGLIVVANSGMISLASFFILIISYVIILLN
                     LRSQSSEDRRKAVSTCGSHVITVLLVLMPPMFMYIRPSTTLAADKLIILFNIVMPPLLN
                     PLIYTLRNNDVKNAMRKLFRVKRSLGEK"
     misc_feature    16..18
                     /gene="OR4S1"
                     /gene_synonym="OR11-100"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGB4.1); glycosylation site"
     misc_feature    70..141
                     /gene="OR4S1"
                     /gene_synonym="OR11-100"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB4.1);
                     transmembrane region"
     misc_feature    166..231
                     /gene="OR4S1"
                     /gene_synonym="OR11-100"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB4.1);
                     transmembrane region"
     misc_feature    295..354
                     /gene="OR4S1"
                     /gene_synonym="OR11-100"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB4.1);
                     transmembrane region"
     misc_feature    412..468
                     /gene="OR4S1"
                     /gene_synonym="OR11-100"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB4.1);
                     transmembrane region"
     misc_feature    580..651
                     /gene="OR4S1"
                     /gene_synonym="OR11-100"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB4.1);
                     transmembrane region"
     misc_feature    700..768
                     /gene="OR4S1"
                     /gene_synonym="OR11-100"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB4.1);
                     transmembrane region"
     misc_feature    802..861
                     /gene="OR4S1"
                     /gene_synonym="OR11-100"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB4.1);
                     transmembrane region"
ORIGIN
        1 atgggtgcca agaacaatgt gactgagttt gttttatttg gcctttttga gagcagagag
       61 atgcagcata catgctttgt ggtattcttc ctctttcatg tgctcactgt cctggggaac
      121 cttctggtca tcatcaccat caatgctaga aagaccctga agtctcccat gtatttcttc
      181 ctgagccagt tgtcttttgc tgacatatgt tatccatcca ctaccatacc caagatgatt
      241 gctgacactt ttgtggagca taagatcatc tccttcaatg gctgcatgac ccagctcttt
      301 tctgcccact tctttggtgg cactgagatc ttcctcctta cagccatggc ctatgaccgc
      361 tatgtggcca tctgtaggcc cctgcactac acagccatca tggattgccg gaagtgtggc
      421 ctgctagcgg gggcctcctg gttagctggc ttcctgcatt ccatcctgca gaccctcctc
      481 acggttcagc tgcctttttg tgggcccaat gagatagaca acttcttctg tgatgttcat
      541 cccctgctca agttggcctg tgcagacacc tacatggtag gtctcatcgt ggtggccaac
      601 agcggtatga tttctttagc atcctttttt atccttatca tttcctatgt tatcatctta
      661 ctgaacctaa gaagccagtc atctgaggac cggcgtaagg ctgtctccac atgtggctca
      721 cacgtaatca ctgtcctttt ggttctcatg ccccccatgt tcatgtacat tcgtccctcc
      781 accaccctgg ctgctgacaa acttatcatc ctctttaaca ttgtgatgcc acctttgctg
      841 aaccctttga tctatacact aaggaacaac gatgtgaaaa atgccatgag gaagctgttt
      901 agggtcaaga ggagcttagg ggagaagtga
//
LOCUS       NM_001004726             918 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily X member 1
            (OR4X1), mRNA.
ACCESSION   NM_001004726
VERSION     NM_001004726.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 918)
  AUTHORS   Ryu CS, Sakong JH, Ahn EH, Kim JO, Ko D, Kim JH, Lee WS and Kim NK.
  TITLE     Association study of the three functional polymorphisms (TAS2R46G>A,
            OR4C16G>A, and OR4X1A>T) with recurrent pregnancy loss
  JOURNAL   Genes Genomics 41 (1), 61-70 (2019)
   PUBMED   30203366
  REMARK    GeneRIF: OR4X1A>T (rs10838851) is not associated with recurrent
            pregnancy loss in Korean women.
REFERENCE   2  (bases 1 to 918)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 918)
  AUTHORS   Takabatake N, Toriyama S, Takeishi Y, Shibata Y, Konta T, Inoue S,
            Abe S, Igarashi A, Tokairin Y, Ishii M, Koyano S, Emi M, Kato T,
            Kawata S and Kubota I.
  TITLE     A nonfunctioning single nucleotide polymorphism in olfactory
            receptor gene family is associated with the forced expiratory volume
            in the first second/the forced vital capacity values of pulmonary
            function test in a Japanese population
  JOURNAL   Biochem Biophys Res Commun 364 (3), 662-667 (2007)
   PUBMED   17964544
  REMARK    GeneRIF: study identified novel nSNP in OR4X1 gene (rs10838851,
            Tyr273Ter*), which is significantly associated with FEV1.0/FVC value
            in pulmonary function test in a Japanese population GeneRIF:
            Observational study of gene-disease association. (HuGE Navigator)
REFERENCE   4  (bases 1 to 918)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 918)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320048.1/ ENSP00000321506.1
            polymorphic pseudogene :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC026975.5.
            On Sep 19, 2004 this sequence version replaced XM_372376.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jul 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be functional according to the Classifier for
            Olfactory Receptor Pseudogenes.
            CCDS Note: This olfactory receptor gene is a segregating pseudogene
            (PMID:22908908), where some individuals have an allele that encodes
            a functional olfactory receptor, while other individuals have an
            allele that is predicted to be non-functional. This CCDS is being
            retained because the Classifier for Olfactory Receptor Pseudogenes
            (CORP) predicts the reference genome allele to be functional.
FEATURES             Location/Qualifiers
     source          1..918
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..918
                     /gene="OR4X1"
                     /gene_synonym="OR11-104"
                     /note="olfactory receptor family 4 subfamily X member 1"
                     /db_xref="GeneID:390113"
                     /db_xref="HGNC:HGNC:14854"
     CDS             1..918
                     /gene="OR4X1"
                     /gene_synonym="OR11-104"
                     /note="olfactory receptor OR11-104"
                     /codon_start=1
                     /product="olfactory receptor 4X1"
                     /protein_id="NP_001004726.1"
                     /db_xref="CCDS:CCDS31487.1"
                     /db_xref="GeneID:390113"
                     /db_xref="HGNC:HGNC:14854"
                     /translation="MVATNNVTEIIFVGFSQNWSEQRVISVMFLLMYTAVVLGNGLIVV
                     TILASKVLTSPMYFFLSYLSFVEICYCSVMAPKLIFDSFIKRKVISLKGCLTQMFSLHF
                     FGGTEAFLLMVMAYDRYVAICKPLHYMAIMNQRMCGLLVRIAWGGGLLHSVGQTFLIFQ
                     LPFCGPNIMDHYFCDVHPVLELACADTFFISLLIITNGGSISVVSFFVLMASYLIILHF
                     LRSHNLEGQHKALSTCASHVTVVDLFFIPCSLVYIRPCVTLPADKIVAVFYTVVTPLLN
                     PVIYSFRNAEVKNAMRRFIGGKVI"
     misc_feature    16..18
                     /gene="OR4X1"
                     /gene_synonym="OR11-104"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH49.1); glycosylation site"
     misc_feature    52..54
                     /gene="OR4X1"
                     /gene_synonym="OR11-104"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH49.1); glycosylation site"
     misc_feature    70..141
                     /gene="OR4X1"
                     /gene_synonym="OR11-104"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH49.1);
                     transmembrane region"
     misc_feature    166..231
                     /gene="OR4X1"
                     /gene_synonym="OR11-104"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH49.1);
                     transmembrane region"
     misc_feature    295..354
                     /gene="OR4X1"
                     /gene_synonym="OR11-104"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH49.1);
                     transmembrane region"
     misc_feature    412..468
                     /gene="OR4X1"
                     /gene_synonym="OR11-104"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH49.1);
                     transmembrane region"
     misc_feature    580..651
                     /gene="OR4X1"
                     /gene_synonym="OR11-104"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH49.1);
                     transmembrane region"
     misc_feature    700..768
                     /gene="OR4X1"
                     /gene_synonym="OR11-104"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH49.1);
                     transmembrane region"
     misc_feature    802..861
                     /gene="OR4X1"
                     /gene_synonym="OR11-104"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH49.1);
                     transmembrane region"
ORIGIN
        1 atggttgcta caaacaatgt gactgaaata attttcgtgg gattttccca gaattggagt
       61 gagcagaggg tcatttctgt gatgtttctc ctcatgtaca cagctgttgt gctgggcaat
      121 ggcctcattg tggtgaccat cctggccagc aaagtgctca cctcccccat gtatttcttt
      181 ctcagctact tatcctttgt ggagatctgc tactgttctg tcatggcccc caagcttatc
      241 tttgactcct ttatcaagag gaaagtcatt tctctcaagg gctgcctcac acagatgttt
      301 tccctccatt tctttggtgg cactgaggcc tttctcctga tggtgatggc ctatgaccgc
      361 tatgtggcca tctgcaagcc cttgcactac atggccatca tgaaccagcg aatgtgtggt
      421 ctcctcgtga ggatagcatg gggcgggggc ctgctgcatt ctgttgggca aaccttcctg
      481 attttccagc tcccgttctg tggccccaac atcatggacc actacttctg tgatgtccac
      541 ccagtgctgg agctggcctg cgcagacacc ttcttcatta gcctgctgat catcaccaat
      601 ggcggctcca tctccgtagt cagtttcttc gtgctgatgg cttcctacct gatcatcctg
      661 cacttcctga gaagccacaa cttggagggg cagcacaagg ccctctccac ctgtgcctct
      721 catgtcacag ttgtcgacct gttcttcata ccttgctcct tggtctatat taggccctgt
      781 gtcaccctcc ctgcagacaa gatagttgct gtattttata cagtggtcac acctctctta
      841 aaccctgtga tttactcctt caggaatgct gaagtgaaaa atgccatgag gagatttatt
      901 gggggaaaag taatttga
//
LOCUS       NM_001004727             912 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily X member 2
            (OR4X2), mRNA.
ACCESSION   NM_001004727
VERSION     NM_001004727.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 912)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 912)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 912)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   4  (bases 1 to 912)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000624868.2/ ENSP00000485431.1
            polymorphic pseudogene :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065847.1.
            On Sep 19, 2004 this sequence version replaced XM_061666.4.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be non-functional as an olfactory receptor
            according to the Classifier for Olfactory Receptor Pseudogenes.
FEATURES             Location/Qualifiers
     source          1..912
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..912
                     /gene="OR4X2"
                     /gene_synonym="OR11-105"
                     /note="olfactory receptor family 4 subfamily X member 2"
                     /db_xref="GeneID:119764"
                     /db_xref="HGNC:HGNC:15184"
     CDS             1..912
                     /gene="OR4X2"
                     /gene_synonym="OR11-105"
                     /note="olfactory receptor OR11-105"
                     /codon_start=1
                     /product="olfactory receptor 4X2"
                     /protein_id="NP_001004727.1"
                     /db_xref="GeneID:119764"
                     /db_xref="HGNC:HGNC:15184"
                     /translation="MTEFIFLVLSPNQEVQRVCFVIFLFLYTAIVLGNFLIVLTVMTSR
                     SLGSPMYFFLSYLSFMEICYSSATAPKLISDLLAERKVISWWGCMAQLFFLHFFGGTEI
                     FLLTVMAYDHYVAICKPLSYTTIMNWQVCTVLVGIAWVGGFMHSFAQILLIFHLLFCGP
                     NVINHYFCDLVPLLKLACSDTFLIGLLIVANGGTLSVISFGVLLASYMVILLHLRTWSS
                     EGWCKALSTCGSHFAVVILFFGPCVFNSLRPSTTLPIDKMVAVFYTVITAILNPVIYSL
                     RNAEMRKAMKRLWIRTLRLNEK"
     misc_feature    52..123
                     /gene="OR4X2"
                     /gene_synonym="OR11-105"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF9.1);
                     transmembrane region"
     misc_feature    148..213
                     /gene="OR4X2"
                     /gene_synonym="OR11-105"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF9.1);
                     transmembrane region"
     misc_feature    277..336
                     /gene="OR4X2"
                     /gene_synonym="OR11-105"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF9.1);
                     transmembrane region"
     misc_feature    394..450
                     /gene="OR4X2"
                     /gene_synonym="OR11-105"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF9.1);
                     transmembrane region"
     misc_feature    562..633
                     /gene="OR4X2"
                     /gene_synonym="OR11-105"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF9.1);
                     transmembrane region"
     misc_feature    682..750
                     /gene="OR4X2"
                     /gene_synonym="OR11-105"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF9.1);
                     transmembrane region"
     misc_feature    784..843
                     /gene="OR4X2"
                     /gene_synonym="OR11-105"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF9.1);
                     transmembrane region"
ORIGIN
        1 atgactgaat tcatttttct ggtactttct cccaaccagg aggtgcagag ggtttgcttt
       61 gtgatatttc tgttcttgta cacagcaatt gtgctgggga atttcctcat tgtgctcact
      121 gtcatgacca gcagaagcct tggttccccc atgtacttct tcctcagcta cctctccttc
      181 atggagatct gctactcctc cgctacagcc cccaaactca tctcagatct gctggctgaa
      241 aggaaagtca tatcttggtg gggctgcatg gcacagcttt tcttcttgca cttctttggt
      301 ggcactgaga ttttcctgct cactgtgatg gcctatgacc actatgtggc catctgcaag
      361 cccctcagct acaccaccat catgaactgg caggtgtgta ctgtccttgt aggaatagca
      421 tgggtgggag gcttcatgca ttcctttgca caaatccttc tcatcttcca cctgctcttc
      481 tgtggcccca atgtgatcaa tcactatttc tgtgacctag ttccccttct caaacttgcc
      541 tgctctgaca ccttcctcat tggtctgctg attgttgcca atggaggcac cctgtctgtg
      601 atcagttttg gggtcctctt agcatcctat atggtcatct tgctccatct gagaacctgg
      661 agctctgaag ggtggtgcaa agccctctcc acctgtgggt cccatttcgc tgtggttatc
      721 ttgttctttg ggccctgcgt cttcaactct ctgaggcctt ctaccactct gcccatagac
      781 aagatggtgg ctgtgttcta cacagtgata accgcgatcc tgaaccctgt catctactct
      841 ctgagaaatg ctgaaatgag gaaggccatg aagaggctgt ggattaggac attgagacta
      901 aatgagaaat ag
//
LOCUS       NM_001004728            8612 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily A member 1
            (OR5A1), mRNA.
ACCESSION   NM_001004728
VERSION     NM_001004728.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8612)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 8612)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641045.1/ ENSP00000493195.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003778.3.
            On Jul 27, 2020 this sequence version replaced NM_001004728.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..8612
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..8612
                     /gene="OR5A1"
                     /gene_synonym="OR11-249; OR5A1P; OST181"
                     /note="olfactory receptor family 5 subfamily A member 1"
                     /db_xref="GeneID:219982"
                     /db_xref="HGNC:HGNC:8319"
     misc_feature    269..271
                     /gene="OR5A1"
                     /gene_synonym="OR11-249; OR5A1P; OST181"
                     /note="upstream in-frame stop codon"
     CDS             401..1348
                     /gene="OR5A1"
                     /gene_synonym="OR11-249; OR5A1P; OST181"
                     /note="olfactory receptor, family 5, subfamily A, member 1
                     pseudogene; olfactory receptor OR11-249"
                     /codon_start=1
                     /product="olfactory receptor 5A1"
                     /protein_id="NP_001004728.1"
                     /db_xref="CCDS:CCDS31561.1"
                     /db_xref="GeneID:219982"
                     /db_xref="HGNC:HGNC:8319"
                     /translation="MSITKAWNSSSVTMFILLGFTDHPELQALLFVTFLGIYLTTLAWN
                     LALIFLIRGDTHLHTPMYFFLSNLSFIDICYSSAVAPNMLTDFFWEQKTISFVGCAAQF
                     FFFVGMGLSECLLLTAMAYDRYAAISSPLLYPTIMTQGLCTRMVVGAYVGGFLSSLIQA
                     SSIFRLHFCGPNIINHFFCDLPPVLALSCSDTFLSQVVNFLVVVTVGGTSFLQLLISYG
                     YIVSAVLKIPSAEGRWKACNTCASHLMVVTLLFGTALFVYLRPSSSYLLGRDKVVSVFY
                     SLVIPMLNPLIYSLRNKEIKDALWKVLERKKVFS"
     misc_feature    422..424
                     /gene="OR5A1"
                     /gene_synonym="OR11-249; OR5A1P; OST181"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGJ0.1); glycosylation site"
     misc_feature    485..556
                     /gene="OR5A1"
                     /gene_synonym="OR11-249; OR5A1P; OST181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ0.1);
                     transmembrane region"
     misc_feature    581..646
                     /gene="OR5A1"
                     /gene_synonym="OR11-249; OR5A1P; OST181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ0.1);
                     transmembrane region"
     misc_feature    710..769
                     /gene="OR5A1"
                     /gene_synonym="OR11-249; OR5A1P; OST181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ0.1);
                     transmembrane region"
     misc_feature    827..883
                     /gene="OR5A1"
                     /gene_synonym="OR11-249; OR5A1P; OST181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ0.1);
                     transmembrane region"
     misc_feature    995..1066
                     /gene="OR5A1"
                     /gene_synonym="OR11-249; OR5A1P; OST181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ0.1);
                     transmembrane region"
     misc_feature    1118..1186
                     /gene="OR5A1"
                     /gene_synonym="OR11-249; OR5A1P; OST181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ0.1);
                     transmembrane region"
     misc_feature    1226..1285
                     /gene="OR5A1"
                     /gene_synonym="OR11-249; OR5A1P; OST181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ0.1);
                     transmembrane region"
ORIGIN
        1 atgaaacatc tccaaggaca gaagaaaaaa acctctcccc aatttacccc caaccccagc
       61 tttgaacatt ttctcaaaat gaccctaaat gcagatatta gctgatgcca gaagagcttc
      121 ttaaagatta caacctccat cctttcttta tatatctttt tcttccttta ctctgcccca
      181 aagcacacct tctatgcacc aagaggatat tttgatcctt gatgaaaaaa ccagccgcaa
      241 gctctctcca aactcattag cactttggta attggaagca gccactgaaa cccaattaaa
      301 ctccttccaa agcagaacaa ctcaaaacag gtatcagcta aagggcagac agagcaggag
      361 caacagggtc tgcatcttgt ccttgtggtc cacgggaagc atgtccataa ccaaagcctg
      421 gaacagctca tcagtgacca tgttcatcct cctgggattc acagaccatc cagaactcca
      481 ggccctcctc tttgtgacct tcctgggcat ctatcttacc accctggcct ggaacctggc
      541 cctcattttt ctgatcagag gtgacaccca tctgcacaca cccatgtact tcttcctaag
      601 caacttatct ttcattgaca tctgctactc ttctgctgtg gctcccaata tgctcactga
      661 cttcttctgg gagcagaaga ccatatcatt tgtgggctgt gctgctcagt tttttttctt
      721 tgtcggcatg ggtctgtctg agtgcctcct cctgactgct atggcatacg accgatatgc
      781 agccatctcc agcccccttc tctaccccac tatcatgacc cagggcctct gtacacgcat
      841 ggtggttggg gcatatgttg gtggcttcct gagctccctg atccaggcca gctccatatt
      901 taggcttcac ttttgcggac ccaacatcat caaccacttc ttctgcgacc tcccaccagt
      961 cctggctctg tcttgctctg acaccttcct cagtcaagtg gtgaatttcc tcgtggtggt
     1021 cactgtcgga ggaacatcgt tcctccaact ccttatctcc tatggttaca tagtgtctgc
     1081 ggtcctgaag atcccttcag cagagggccg atggaaagcc tgcaacacgt gtgcctcgca
     1141 tctgatggtg gtgactctgc tgtttgggac agcccttttc gtgtacttgc gacccagctc
     1201 cagctacttg ctaggcaggg acaaggtggt gtctgttttc tattcattgg tgatccccat
     1261 gctgaaccct ctcatttaca gtttgaggaa caaagagatc aaggatgccc tgtggaaggt
     1321 gttggaaagg aagaaagtgt tttcttaggt catgcgtaga aacttattta tccaaactgc
     1381 tggagaatta aacaatccaa gccttcacct ccacctctgc ctcaggcaag ggagatattt
     1441 ggtgctctca tttgtggaga ctcttccctc cagattcctc tcacccttcc tcatggtcac
     1501 ttgtctactg actgtgccat agatagccaa aaagggaagg aatttcttca gaaaaaaaaa
     1561 aaaaaaaaaa agaacctccc caggataacc tattttcaca ataatcacaa taactagcct
     1621 ttattgggcc cttagtatgt accaggcaca aaagttattt aattaaatac tcattgcagt
     1681 actaaaatac acaatgaact atctgtatgt tacaaaataa ggaaacagtg tgtcagcaag
     1741 gaaaattaac ttgctcaggg tcaccaagga agaggcagaa ctctcattca caccaaggtc
     1801 ttcctgactc cagagcccac gttctgccca aacgctgcac tccacattca acaaaaaaat
     1861 agcccaaaag tagtacgagt atataactct tgttactggc atatggcaga atctgaaaag
     1921 atacactatg tgtagttaag gtaaattaga aaaacaagat gcctacctca tcaaatgccc
     1981 tctctaggat ctccctgttg aattccaatt atggctactg agtaatttgc taagcaaatg
     2041 ctgaaggaca ttccccttgg ctgccatttc tctctttctc agctatgtaa gggctgggaa
     2101 atttgagtcc aatggtgtca taccaatact cttcttttct cagtctcagt cccctaaact
     2161 gcctatcagt cagtacctcc ttgatttttc tttaatattt cactaaatgt tgtatttttt
     2221 ttcttttaat ttaatttaat tttattttat tttaagttcc gggatacata tgcaggatgt
     2281 gcaggtttgt tacataggta aacatatgtc atggtgattt gctgcaccta tccacccatc
     2341 acctaggtat taagccccac atccgttagc tatttatccc gatgctctcc ctcctccctg
     2401 cctcctgaca ggccccaatg tgcattgttc ccctctctgt gtccatgtgt tctcattgtt
     2461 tagctcttac ttacaagtga gaacattgga tatttggtta tctgttcttg ggttagtttg
     2521 ctgaggataa tggcttccag ctctatccat gtccctgcaa agaacactaa ttccttcctt
     2581 ttatggctgc atagtattcc atggtatgta tgtaccatat tttctttatc cagtctctca
     2641 ttgatgggaa tttgggttga ttccatgtct ttgctattgt gaatagtgct gcaatgaaca
     2701 tacacatgca tgtatattta taatagaatt atttatattc ctttggatat atacccagta
     2761 ataagattgc tgggtcaaat gatatttcca tttctaggtc tttgaggact cgccacactg
     2821 tcttccacaa tggttgaact aatttacatt cccaccaaca gtataaaagt gttcctattt
     2881 ctccacagcc tcgccagcat ctgttgtttc ttgacttttt aataattgcc attctgacta
     2941 gcatgagatg gtatctcatt gtgatttttt atttgcattt ctctaataat tagtgatgtt
     3001 gagctttttt tcatatgttt gttggccata caaatgtctt cttttgagaa gtgtctgttc
     3061 atgtcatttg cccactttta gatagggttg tttgtttttt tcttgtaaat ttgtttaagt
     3121 tacctttgtc agatagatag attgcaaaaa ttttctccca ttctgtaggt tgtctgttca
     3181 ttctaatgat agcttctttt gcagaatctc tttagtttaa ttagatccca tttgccaatg
     3241 tttgcttttg ttgcaattgc ttttgacgtt ttcatcatga aatctttgcc agtgcctatg
     3301 tcctaaatgg cattgcctag attttcttct aggattttta tagtttgggg ctttacattt
     3361 aaatctttaa tccatcttga gttaattttt gtataaagtt taaggaactg gtccattttc
     3421 aattttctgt atatggctag ccagttttcc cagcaccatt tattagatag ggaatccttt
     3481 ccccattgct tgtctttatc aggtttgtca aagattcaat ggttgtagat gtgcagtctt
     3541 atttctgaga tctctattgt gttctattgg tctacgtgtc tgtttttgta caagtaccat
     3601 gttgttttgg ttaccataga cttgtagtat agtttgaagt cagggagtgt aatgcctccg
     3661 gctttgttct ttttgcttag gattgtcttg actatactag ctccttgatt ttaaccatgc
     3721 cattccttta ccagttcagg acctgcctcc atttcacagt ttggtgtcct ttttgatcac
     3781 cacaccctga attccccttg ctatcttcta tctgaaccca ttgctcctat aaaattcctg
     3841 tttctcctct tgaataaatt aaaccttgca gcccacattg ggtgtaattt atttgccatc
     3901 atctcaggga agtatatccc aggttcccac ctccagataa ttaccctttc atttcaggca
     3961 ctcacagtgg aattgtccca cacaactatt tctgctggta aatctctctc tctggctact
     4021 tgtaacgcat tcacttttcc attgatgtag gtcaattgga taagtagata tttgatttga
     4081 ttgttcatat aacagaatta attatttcct ccatatctgg aagaacataa acaatgcata
     4141 ggaaagcaga gatcccttct caggtttcct gggttcttca tcctctaaat tcattcccat
     4201 ccacggccaa taaaacgtag aatgactcct acaaatcgta tatacaggta ctcagagaga
     4261 gagagttgaa atttgctgag tgcttactaa atttcaagtt ctattctgaa catttcatac
     4321 atgttaagcc attgaatccc tattgacaca gccattgagt ggaagctgac tcagcatggc
     4381 tcctgagact aaactcataa acactttgtg acatttcccc caagtgggcc cctgattagg
     4441 ttgaagtggg gaggttttat agtggcagcc aaatatacca cccagggaaa atactagaga
     4501 aactcaacat atgcctccca tttctgtcta ctggaagtat cccatgcctc catttttcta
     4561 ttgcacatct tccaaaatgt aggcccagaa gcagaggcca cagctatgcc tagaactaca
     4621 gaacaactgc cactggggtc aggctagtgt atgaaactgc aacaattagg ccagtaaaat
     4681 tttaggaatg aaaagttgac actatatctg tatattaagg gatacttgct ttacagaaat
     4741 atcagcaaat gaatcaaaaa tttacaggca ttttaccatt acaagggaaa ttcaagaaag
     4801 aatatgagaa ggagagattg tctgatcctc acccctattt ggttgcagtt acatcattag
     4861 cttcttcagg cattattggg tagtagagaa cagcaggaag cagggagaca aaaatcaaaa
     4921 tatcagttta ataatgttaa atcgacagat aatgttctgt tggaggacat ggctttgatc
     4981 tggtcctgtg gctgccccac agtgtacacc agaattagac aggctaaccc aggagaagca
     5041 ggcttgccct gttgcactaa ttgcgtagat gagagaaaat cagactacat gctccctgca
     5101 gggagacaga tcccaaagaa agagaaggaa gatcagaagg ccaagttctc ctgcctaatt
     5161 tttttcccag attcaccact cctttaaatc aggggtgtcc aatcttttgg cttccctggg
     5221 caacattgga agaatttgtc ttgggccaca caaaaaaaca cactaatgat agctgatgag
     5281 ctttaaaaaa atcacaaaaa aactcttaat gtgttaagga agtttacaaa tttgtattgg
     5341 tccacattca aagccgtcct gggccgcatg aagcccacgg gctgtgggtt gtgcaagctt
     5401 gctttacatc actcctacct tcctagaaag gactgagtga aggaggaggc acaaaacctg
     5461 catgccattt cagcgtaagt ccctctccag gaaaacagga ggaaaaggga aggaactccc
     5521 catacacata ctaagatctt taaggttact tcactctgat cctctaagaa gtcctaaact
     5581 gaagttccat ccacgactat gaggggccac tagaccagga gcctcatcta gtggaatcca
     5641 atttgtcagt atctccaggt ctcagtcaag gcctctttat gatgacgttg gtctcatcca
     5701 atgcttggat cttacaggat tattatgagc ccaaaaaaag aaaattgatt tttagaaatc
     5761 tcttagaaaa aatttaaaac attatataaa taccagggat tcctgttatt atcaaatgcc
     5821 acttccccca aggaagcatt cccagactcc ctggacctca ctaaatccct gggccaatct
     5881 cgccccattc ttgccctttg gtgtgaatca tcacagttgt aagttcatgc ttgagggtgg
     5941 ggtcacatct gtctcttcac aaatatattc tcagcatcta gaactgcctg atatacaaaa
     6001 cgcaataaat atgcattttt ggtcaattat tataattgat ctgttggaaa aaaatcaatt
     6061 atgtgaccca aattgtgacc attgtcacat gaaattgact cttgaactat aatattgttg
     6121 atgaaatttc tgtaatcgtt atcatacaag gactttgcat caaatttgat gttgatataa
     6181 tttagagaag gagcctttgg agattcctca gacttccctg tacacagttt catcacctcc
     6241 ttattagatg tgctatcata atgggtgtgt gtgtgtgtgt gtgaaaagga gagaaaaaac
     6301 atgcacacgt gttgcttagt aactttttaa taactcccat tgcatctgca actgccaact
     6361 tctccactga aaatatattt cctacaaata tccaatatta ctccctatgc taatcattat
     6421 agtagacttc ttattcagca tcagttagga acagtgtaaa ctgttcatgt gtttgggtga
     6481 agaagggcag agcagtgatg atggggaagt tgtcaggctc actttaccaa tgcaaaggta
     6541 ggtgagggcg tcctgaaaat tttgcacacc tacaaactta tgatttcaat agtgtctctg
     6601 aaaggcaaaa tgtccatttg caattctgga agtatatgtc atcttgaact agaagcttca
     6661 ggctgattaa gatctcctac ttctaaccta aaatactggg cttcctaaga cacattcaaa
     6721 taaggtaatt tttcaaaaat taaaactcat tccataaaca ttactaagcc cctaccatgt
     6781 gtaaaaaaat aataactagc atgatctctt tcttaaaagg tgattaaaag ttagatggca
     6841 gcaaaaagac aactatataa tgatattagg attatgataa tattaatacc ctacatttgt
     6901 ataatgcttt gaagtttgca gtattctctc atatgcatta agccatttaa ttgacttata
     6961 cagcaacata agtgaatagg ggatgtaaga tgaggctgaa aatggcgtaa aggaaaacaa
     7021 atacttgttg gggaactact gcacatcagg agttgcaaat ggacacccct ttgttcattc
     7081 atcttcaaaa agaattattg aataactgct atgttccagg taggagctgg ggatacaata
     7141 gtgacaaaag aaatccttgc cttcagggag tttacattgg gaggaaaagg cagacacaca
     7201 tagacccata aaggcaagga gtaaaaagtg ctagattatc acaagcaagc ctcactatgc
     7261 aaagtaaggt gtatgttccc catttcatgg aataaggtcc tggggttcat aaaggttaac
     7321 ttgctccggg tcacaagagg cacagtttaa aatactggaa cctgacttcg aaggctgtgc
     7381 tcttttgaac aagctaattc tatgttcaat catgcaaccc tgaggttaca aaatagaaag
     7441 gctatcgttt gatcctgacc tcacattgag cctgatagtc cagaaccttc taaggtgatt
     7501 gaccagaaga gtaggtggaa taatgttaat ctgaaagaga agtcaacagt aagtagattt
     7561 gacctcagtt cccagagacc tgagttggct gattccaggt tctcctctgg gtgcctccag
     7621 ccaatgcctc atggagccat aacacaccaa aagaaaaatt agagctgtct ttcccacaca
     7681 cccttttcca taataagtca gcttcttaga acaattttaa aaacaaaaaa cagaaaaata
     7741 caagatacat aatatcagag ctcaaattaa tggagaactt tttacttcaa attgtaaata
     7801 ggtataatac tttttctgat tttcataatc agaagccatt taaaatcatt tttttaatta
     7861 gacacaacag aacgtctttt taaaataaaa atgccaaaat ccaattacca acagataatg
     7921 gctactactg ttgtgatata ttaatacatc ttttcagact tctagccatg tagatatttt
     7981 tcccaaaaat aacatcatgt gacatattca gtgttttaat ctgtcactaa aaagaaatct
     8041 ttccatgttt aaaagtacaa ttctacgtta tcactttgaa tgtctgcaaa tacttaattg
     8101 tactattgtg ccatatttat tgaacaaatt ttctatatca gacgctaact taaattctaa
     8161 tttctactat ttgaaacagc aatgtgatga gctttgttta tatttaggac attaaacatt
     8221 tggtttatta actctttagc ataaattcct aaagtagaaa ttttgagtca cggggtttgt
     8281 acatattaca ttttgacaca tatttccaga atgaccccag aaatgctgcc tatgtgtgca
     8341 ctcctattaa tcatatgaaa gtgtcacttt ccccacatct atgccaacag tggacttttc
     8401 aacattggtt aatcttctag atgagaaatg atacctcatt gtaatttaat ttgtatttcc
     8461 ttttttcttt ctttctttcc cttttttaat agagacagga tcttcctatg ttgcccaggc
     8521 tggtctcaaa ctcatgagct caagagatcc tccctccttg gcctcctaat atatttatct
     8581 gatcaatagt tgattgactg tcttttcaca tg
//
LOCUS       NM_001004729            7647 bp    mRNA    linear   PRI 07-FEB-2023
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily AN member 1
            (OR5AN1), mRNA.
ACCESSION   NM_001004729
VERSION     NM_001004729.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7647)
  AUTHORS   Sato-Akuhara N, Trimmer C, Keller A, Niimura Y, Shirasu M, Mainland
            JD and Touhara K.
  TITLE     Genetic variation in the human olfactory receptor OR5AN1 associates
            with the perception of musks
  JOURNAL   Chem Senses 48 (2023)
   PUBMED   36625229
  REMARK    GeneRIF: Genetic variation in the human olfactory receptor OR5AN1
            associates with the perception of musks.
REFERENCE   2  (bases 1 to 7647)
  AUTHORS   Ben Khemis I, Sagaama A, Issaoui N and Ben Lamine A.
  TITLE     Steric and energetic characterizations of mouse and human musk
            receptors activated by nitro musk smelling compounds at molecular
            level: Statistical physics treatment and molecular docking analysis
  JOURNAL   Int J Biol Macromol 188, 333-342 (2021)
   PUBMED   34389381
  REMARK    GeneRIF: Steric and energetic characterizations of mouse and human
            musk receptors activated by nitro musk smelling compounds at
            molecular level: Statistical physics treatment and molecular docking
            analysis.
REFERENCE   3  (bases 1 to 7647)
  AUTHORS   Ahmed L, Zhang Y, Block E, Buehl M, Corr MJ, Cormanich RA, Gundala
            S, Matsunami H, O'Hagan D, Ozbil M, Pan Y, Sekharan S, Ten N, Wang
            M, Yang M, Zhang Q, Zhang R, Batista VS and Zhuang H.
  TITLE     Molecular mechanism of activation of human musk receptors OR5AN1 and
            OR1A1 by (R)-muscone and diverse other musk-smelling compounds
  JOURNAL   Proc Natl Acad Sci U S A 115 (17), E3950-E3958 (2018)
   PUBMED   29632183
  REMARK    GeneRIF: Molecular mechanism of activation of human musk receptors
            OR5AN1 and OR1A1 by (R)-muscone and diverse other musk-smelling
            compounds.
REFERENCE   4  (bases 1 to 7647)
  AUTHORS   Block E, Jang S, Matsunami H, Sekharan S, Dethier B, Ertem MZ,
            Gundala S, Pan Y, Li S, Li Z, Lodge SN, Ozbil M, Jiang H, Penalba
            SF, Batista VS and Zhuang H.
  TITLE     Implausibility of the vibrational theory of olfaction
  JOURNAL   Proc Natl Acad Sci U S A 112 (21), E2766-E2774 (2015)
   PUBMED   25901328
REFERENCE   5  (bases 1 to 7647)
  AUTHORS   McClintock TS, Adipietro K, Titlow WB, Breheny P, Walz A, Mombaerts
            P and Matsunami H.
  TITLE     In vivo identification of eugenol-responsive and muscone-responsive
            mouse odorant receptors
  JOURNAL   J Neurosci 34 (47), 15669-15678 (2014)
   PUBMED   25411495
  REMARK    GeneRIF: OR5AN1 is an odorant receptor that responds to macrocyclic
            ketone and lactone musk odor molecules such as exaltone and muscone,
            and is the ortholog of mouse odorant receptors responsive to
            muscone.
REFERENCE   6  (bases 1 to 7647)
  AUTHORS   Shirasu M, Yoshikawa K, Takai Y, Nakashima A, Takeuchi H, Sakano H
            and Touhara K.
  TITLE     Olfactory receptor and neural pathway responsible for highly
            selective sensing of musk odors
  JOURNAL   Neuron 81 (1), 165-178 (2014)
   PUBMED   24361078
  REMARK    GeneRIF: This study identifed that OR5AN1 was a specific muscone
            receptor expressed by neurons innervating the muscone-responsive
            anteromedial glomeruli.
REFERENCE   7  (bases 1 to 7647)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641998.1/ ENSP00000493250.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP002780.3.
            On Jul 22, 2020 this sequence version replaced NM_001004729.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..7647
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..7647
                     /gene="OR5AN1"
                     /gene_synonym="OR11-244"
                     /note="olfactory receptor family 5 subfamily AN member 1"
                     /db_xref="GeneID:390195"
                     /db_xref="HGNC:HGNC:15255"
                     /db_xref="MIM:615702"
     misc_feature    368..370
                     /gene="OR5AN1"
                     /gene_synonym="OR11-244"
                     /note="upstream in-frame stop codon"
     CDS             392..1327
                     /gene="OR5AN1"
                     /gene_synonym="OR11-244"
                     /note="olfactory receptor OR11-244; muscone receptor"
                     /codon_start=1
                     /product="olfactory receptor 5AN1"
                     /protein_id="NP_001004729.1"
                     /db_xref="CCDS:CCDS31559.1"
                     /db_xref="GeneID:390195"
                     /db_xref="HGNC:HGNC:15255"
                     /db_xref="MIM:615702"
                     /translation="MTGGGNITEITYFILLGFSDFPRIIKVLFTIFLVIYITSLAWNLS
                     LIVLIRMDSHLHTPMYFFLSNLSFIDVCYISSTVPKMLSNLLQEQQTITFVGCIIQYFI
                     FSTMGLSESCLMTAMAYDRYAAICNPLLYSSIMSPTLCVWMVLGAYMTGLTASLFQIGA
                     LLQLHFCGSNVIRHFFCDMPQLLILSCTDTFFVQVMTAILTMFFGIASALVIMISYGYI
                     GISIMKITSAKGRSKAFNTCASHLTAVSLFYTSGIFVYLSSSSGGSSSFDRFASVFYTV
                     VIPMLNPLIYSLRNKEIKDALKRLQKRKCC"
     misc_feature    407..409
                     /gene="OR5AN1"
                     /gene_synonym="OR11-244"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGI8.1); glycosylation site"
     misc_feature    470..532
                     /gene="OR5AN1"
                     /gene_synonym="OR11-244"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI8.1);
                     transmembrane region"
     misc_feature    557..619
                     /gene="OR5AN1"
                     /gene_synonym="OR11-244"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI8.1);
                     transmembrane region"
     misc_feature    692..754
                     /gene="OR5AN1"
                     /gene_synonym="OR11-244"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI8.1);
                     transmembrane region"
     misc_feature    794..856
                     /gene="OR5AN1"
                     /gene_synonym="OR11-244"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI8.1);
                     transmembrane region"
     misc_feature    983..1045
                     /gene="OR5AN1"
                     /gene_synonym="OR11-244"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI8.1);
                     transmembrane region"
     misc_feature    1106..1168
                     /gene="OR5AN1"
                     /gene_synonym="OR11-244"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI8.1);
                     transmembrane region"
     misc_feature    1208..1270
                     /gene="OR5AN1"
                     /gene_synonym="OR11-244"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI8.1);
                     transmembrane region"
ORIGIN
        1 atctctcttg ctgtgagtgg acagccaatt ttgtggtcaa acatgcccat cttggagtgt
       61 gatacgccca cctgaaaaat tccattggaa aagaaataag caatttcaac ctttggcaag
      121 aaccctgtct tcttggagga cctgggtaaa ggtcacagga caagacttag aacagtggat
      181 tctgtaccgt ctcaatatcc atgtaattct tccagtaagg atacacatgg aacagagttt
      241 atggtcctca gtctctctca ttcttcaact cttcccactt cctcacttcc acattctgta
      301 cctaaagctc ttcgttggat tctcttactc cttactcaac cttctgtaaa aagaaaaacc
      361 tcaaacataa aatttcagga gcactgagcc aatgactggg ggaggaaata ttacagaaat
      421 cacctatttc atcctgctgg gattctcaga ttttcccagg atcataaaag tgctcttcac
      481 tatattcctg gtgatctaca ttacatctct ggcctggaac ctctccctca ttgttttaat
      541 aaggatggat tcccacctcc atacacccat gtatttcttc ctcagtaacc tgtccttcat
      601 agatgtctgc tatatcagct ccacagtccc caagatgctc tccaacctct tacaggaaca
      661 gcaaactatc acttttgttg gttgtattat tcagtacttt atcttttcaa cgatgggact
      721 gagtgagtct tgtctcatga cagccatggc ttatgatcgt tatgctgcca tttgtaaccc
      781 cctgctctat tcatccatca tgtcacccac cctctgtgtt tggatggtac tgggagccta
      841 catgactggc ctcactgctt ctttattcca aattggtgct ttgcttcaac tccacttctg
      901 tgggtctaat gtcatcagac atttcttctg tgacatgccc caactgttaa tcttgtcctg
      961 tactgacact ttctttgtac aggtcatgac tgctatatta accatgttct ttgggatagc
     1021 aagtgcccta gttatcatga tatcctatgg ctatattggc atctccatca tgaagatcac
     1081 ttcagctaaa ggcaggtcca aggcattcaa cacctgtgct tctcatctaa cagctgtttc
     1141 cctcttctat acatcaggaa tctttgtcta tttgagttcc agctctggag gttcttcaag
     1201 ctttgacaga tttgcatctg ttttctacac tgtggtcatt cccatgttaa atcccttgat
     1261 ttacagtttg aggaacaaag aaattaaaga tgccttaaag aggttgcaaa agagaaagtg
     1321 ctgctgagtt tacagattct gagatttctg ccagatatgg cccatcagaa tctccctaac
     1381 ccacaaaata tgataatgaa tggactataa caaaattcat gctgcctact gcctttggac
     1441 aaagaaggct tgatttgatg cacaaaatat gccaatatgg accaacagat gactcaatgc
     1501 cacagacatc aggatcttta ggtcctggag gttcattatt tttatcctac atcaggataa
     1561 ataatgtggc ctcatcattt atgaatttgt ccaaaattat ttgtgaaaca acaagattta
     1621 gaaatctttt gtttcctgtg gcttctcaga tcaaagatgg ctcaatgtta ggactttgcc
     1681 actacagaaa tgaggcctgg cacagacccc caggagttca gaaacatcat ctcccatata
     1741 tgctgataca gcataataaa gacatggtgg taaccattgt ttattctgtg tttctggatg
     1801 ggaaagaata aacagacaga ggggttctgc cattggaaag ggaaaaaaaa gcaatatatt
     1861 ggcctggttg tgtctttaag aaagagcaac atgagatagc tgcagtttgc ctaagacctc
     1921 tctcagctaa tcatctaata catttttggc aatttccttg cctacaccag ctgtagcata
     1981 agaaagaagg aggtgatttt aatcatgaag tgggatagaa acaaggatat ggttcctgca
     2041 atcatattta cttatgagtc tgatgatttg atttcttgta tctagagtct agtgggaaat
     2101 tataatggag atgatattca aagttcacag ccaatagcaa catctgatac tgtgggactc
     2161 aaactttctt tttctccccc attaaattta gaaaatttac tcttgtttga ctgggtaact
     2221 attgaatcca ggagaggatg aaagaaacat gggtcaaata tatttcagtc aagctcaacc
     2281 tagacaagct aacctgcagt catgttcaga gaagtcatgc atttaagcct actctacatc
     2341 agccagtccc agctgatctc cagatgatct gaggatatgt gagtgataat aaatgaatgt
     2401 tgcagtcagc actggatttt gcagtttgtt atacagcagt agttaaccaa tatacttcat
     2461 aatttaaaat taaaaatttt ctccttgtcc aaactgcctg gcgtaaaatt caggctctgc
     2521 cacccccaag gtgtgtgatg ctgggcaagc cacacaatct tttgtgcctc agttttctca
     2581 tttgtaaaat tgagatatta tatatctatt ttggagttgt ttaggattat tgagctgata
     2641 cttattcaaa actcagaata gggaccccag catataataa acgctatacg tgaatcatgt
     2701 attattattt attaagtgct ttctatgttc aaagaattta aatggtttca gttgagctaa
     2761 gttttactgt tataccaact tcacagatga ataaacttag gccagagaaa ttcagaaaca
     2821 cagctagtaa gtgaaggggt gggaatccaa actaacattg cagatatcaa agcctcctcc
     2881 cttcttcaat accccttaat gtataaggtg ccaaattgct tattaatata caaggtacat
     2941 atgaataaaa taaagcaata tttatgagat gtagccaaag ctaaaatcag aagtaacaat
     3001 cttttgaaaa gaaatacaat aaagtaacaa agctgtgaat cagaaaaaaa ttgaaaaaag
     3061 aatgccaatt caaaccttaa gaaaactaga ggagaagtgg aggagtgggc aagatggctg
     3121 accagaagca gctagtgtgt gtggctgtca tggaaaggaa cagaaggggt gagcattagg
     3181 tctttgcaac cctcaagtca ggagatctcc ttgtgaaccc actccaccag ggctttcagt
     3241 cttcagtcta atacacagag ctatgtggag tcttggcaga gcagccactc aggccagcat
     3301 ggagtcctcg aaggcttaga tacttgggtt ttctggtaaa agtagctgca gccccagcaa
     3361 agttggaggt tagactcctg tatataaccc taggaaagag gctgaatcca ggggtgttaa
     3421 cagcaacaac ccacaggccc cacttccatg ccacctcaca agataagatc cactggcttg
     3481 gaattccaga cagctaccag tagtggcatt gtacctccct aagaaggagc tcaaagggaa
     3541 gagctgggct gtcatctttg ctgttcagat gccttagctg ttccggcctt tgggctttga
     3601 agaatctgag ctgacccagg gtggaagaga acccccagcc tagcacaaca cagctgctct
     3661 acccaaacat agccagacta tgctttaggt gggtgtccaa tcccattcct cttcactggg
     3721 caggacctcc caactggggc ctgcagccac ccccaccaag ctctccaggt gacaaagatt
     3781 tgaattatcc ctgagatggc actcacagag ggagaagtgg gttaccatct ttgctgtttt
     3841 aatgacttag caactccagc ctttgggctt tgaagtatct gagacgactg aggactgaag
     3901 tagaccccca acacagcaca gctgttctac caaaacgtgg ccagactgct ttttcaagtg
     3961 gttcctaatc ctgttcctcc tcactgggtg gaacctctca actaggctct ccagccactt
     4021 cctacagctg ctttgggcca ccaaaactgc atacctccct gggacaaagc tctcagagga
     4081 agggacaagc cactgtcttt gctgtttcac agccttcact ggtgacacct ccaggttctg
     4141 ggaaatctga ggtgaccagg tactggagca gcccccaagc ataaaacagc agccctatgg
     4201 aaaagtggcc agagtgtttc gtgggtttcc attcccatat cttctcacca ggaagatctt
     4261 caggcctggg cttccagcca ccaccagcca gaactatcaa gccagtatca aatcaccaac
     4321 tccctagaca gagcttccga ggtcaacaga aagtttctat gccactgcct ctgcagtgga
     4381 actgcccttg acacgctcca actaatgaat gagcaaagac actaagtgct ttatccacac
     4441 ctctaataat ctgtagtcaa cccaaggaga agaggctggt ctgtctccca cgggtcccac
     4501 acacccccca ccactcatca ccagacaaag aacccctggc ttgggcccac aacacatacc
     4561 ctctatcttg ggctggctgc actgagcgat tgctgacctg catctctctg gggtggagcc
     4621 cccaggagtc aaacaaatga cccttagcca caaccattac gaagatctct tccactgctg
     4681 tctctaagct ggggaaggaa cgtaaacaca aagatctccc cagagctgca gcaggcagcc
     4741 caggagtgct gaatcaggaa ctacaggcag cactcagggg gagaggaaac cacacgttct
     4801 gagcactgag agggaacaca gctgcaaatg tgaggaaaca taggggagcc acacaacaga
     4861 acaagagtct tccagctgtc ctgtaagcct aggtatcacc tactgaatca cacctcaaaa
     4921 cttcaacacc aaaaatatct cactaatata tccccctctg aaacaagaga taagaagtga
     4981 gcatcaaaca cagaccctac acaaagcctt ggcccagtga aaacatccag aaaataagtt
     5041 gattgactat actcaaacta ctctgcagtt aaagaaacac ccacatgcag agatgagaaa
     5101 aaaaaaacaa tgtaagaact ctggtaactc aaatggccaa aatatcatat gtcctccaaa
     5161 tgatcacacc agttctccag caaaggtcct taaccaggcc aaactggcta gaatgacaga
     5221 aatagaattc agaatatgga tagaaaaaaa aagatcatgg aaattcagga ggatggcaaa
     5281 atccaatcca agaaaaataa gaatcacaat aaagtgacac agaagctgaa agaaaaatag
     5341 ccagtataaa aaagcactta gtgggtctga cagagctgaa tagcgcaata caagaattcc
     5401 acaatgcaat caaaagtatt aagagcagaa taaaccaagc tgaggaaaca atctcagaac
     5461 ttgatgctgg ttctctgaaa taagacagtc agacacaaat aaagaaaaaa aaagaaataa
     5521 acaaagcctc caagaagtat gggttatgta aacaggccaa atctacaagt aattgacatc
     5581 actgaaaggg aggggaagga agaaaacaac ttggaaaata tatttcagaa tattgtccat
     5641 gaaaatatcc ccaaccttgc tagagaggac aacagtcaaa ttcagtaaat acagagaagt
     5701 ccttcaagat tctacacaag aagataatca ccaagacaca taatcattat gttttccaag
     5761 gtcaaaataa aagaatgtta aaggcagcta taaggaaagg gtgagtcatc tacaaaggga
     5821 tccccgtcag gctaacagca gacctctcca ctggtaccct acaagccaga agagtttggg
     5881 gttttgtctt ccacatcctt aaagaaaata gtcttcaacc aagaatttca tatctagcca
     5941 aactaagctc ctaagtgaag gaataataca atccttctca gataagcaaa tgttgaggga
     6001 cttcattacc accagacctg ccttacaaga gatcttgaaa ggagcagtaa atatagaaag
     6061 gaaaaactgc taccagctaa tacaaaaaca cagttaaaca cagaaaccaa tgtcactatg
     6121 aagcaaccac acaaacaagt aaacataata accagctgac agcacaatga cagaatcaaa
     6181 tgcacacata tcagtattaa ccttgaatgt aaatgggcta aatgccccac taaaaaggca
     6241 cagagtggca agcaggataa aaaaggaaga cccaatggta tgctgtcttc aagagacccg
     6301 tctcacatgt aagacacaca caggctcaaa ataaagggaa ggagaaactt ccatggctga
     6361 tttgttactg ttgctgccaa atgtcacaga ctgaaagaat caaaattgta aaaatttcta
     6421 ttctaaccaa ttaatgtatg aattatgtga aataccaatc aaaatcacaa catgcttgtg
     6481 gaaactaaaa gttgattatg aaattaatac agaaaagagc aaagtatatc caagatattc
     6541 ttgcccttac aaatatcaat gtattcagaa gctatataag tgacataagc aagatgggga
     6601 gtcagggatc tcagccctca tcacccacag aaaacaactg gacagctatc tgtgcatgaa
     6661 aattgctata ggaaggctct gcagtccagt taaggagctg cagcaacaca gtgaagacaa
     6721 gtgaatgaac gtgttagtca gagttctcca gagagacaaa accaatagga tacatcagag
     6781 gagttcctga actccttaaa attgttggaa aaatattctg tatatataca tcttttttga
     6841 tcaaagcttt acatcatttg gattcacaag aaggaccatg agataacctc tgtgatagct
     6901 ctaggctgtt atcttgtagg ctttttcttt tcacatgtcc atgtgttatc tacacacaat
     6961 tgggttcttt tgctttaata tttgtgtgta tgtggagtat tcctttttct tttaaacaaa
     7021 ggtaagacta gactttctct gaatatgcta tttggcaact tggttttttt ttttccacta
     7081 aagatagcct tccaggtcag cacataaaga taaacatttt taatgtttgc atagtgtccc
     7141 tgcttaatat tacatagagt agctgggtca taattattta atcagtactc aaaaacatag
     7201 tatgagtgca aaaatgttca ctgatttgga gagaaagatt gtgttatggc aagttagaag
     7261 aaacagaata tgtgaaggtg aggaattcag aggaacctct ataggtcacc accttaggga
     7321 aaaaaaaaga caaaataagg attggaaaac tgcagaatgt ttaaatttgt taccaccaaa
     7381 gctgaaagca caatttgtgc agaaggagtt acggtacagc taaggctaac ctgcatctat
     7441 gctccagctt ccaggactcc tccctatgcc agagacatta taataacaga gaaaacaaca
     7501 acaacaacaa cttacaaata aaggatgtaa aatgaattat aatacaaggc aaggccacat
     7561 gtagtctagc taagcccatc ttgagggaag gtccagggac aaatttggaa aaaattatag
     7621 gataggcaac agataaaggt atgaagt
//
LOCUS       NM_001004730             933 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily AR member 1
            (OR5AR1), mRNA.
ACCESSION   NM_001004730
VERSION     NM_001004730.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 933)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 933)
  AUTHORS   Yang Q, Kathiresan S, Lin JP, Tofler GH and O'Donnell CJ.
  TITLE     Genome-wide association and linkage analyses of hemostatic factors
            and hematological phenotypes in the Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S12 (2007)
   PUBMED   17903294
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 933)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 933)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC140745.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000624596.2/ ENSP00000485240.1
            polymorphic pseudogene   :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065740.1.
            On Sep 19, 2004 this sequence version replaced XM_166845.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be non-functional as an olfactory receptor
            according to the Classifier for Olfactory Receptor Pseudogenes.
FEATURES             Location/Qualifiers
     source          1..933
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..933
                     /gene="OR5AR1"
                     /gene_synonym="OR11-209"
                     /note="olfactory receptor family 5 subfamily AR member 1"
                     /db_xref="GeneID:219493"
                     /db_xref="HGNC:HGNC:15260"
     CDS             1..933
                     /gene="OR5AR1"
                     /gene_synonym="OR11-209"
                     /note="olfactory receptor OR11-209"
                     /codon_start=1
                     /product="olfactory receptor 5AR1"
                     /protein_id="NP_001004730.1"
                     /db_xref="GeneID:219493"
                     /db_xref="HGNC:HGNC:15260"
                     /translation="MDKENSSMVTEFIFMGITQDPQMEIIFFVVFLIVYLVNVVGNIGM
                     IILITTDTQLHTPMYFFLCNLSFVDLGYSSAIAPRMLADFLTNHKVISFSSCATQFAFF
                     VGFVDAECYVLAAMAYGRFVAICRPLHYSTFMSKQVCLALMLGSYLAGLVSLVAHTTLT
                     FSLSYCGSNIINHFFCEIPPLLALSCSDTYISEILLFSLCGFIEFSTILIIFISYTFIL
                     VAIIRMRSAEGRLKAFSTCGSHLTGITLFYGTVMFMYLRPTSSYSLDQDKWASVFYTVI
                     IPMLNPLIYSLRNKDVKAAFKKLIGKKSQ"
     misc_feature    13..15
                     /gene="OR5AR1"
                     /gene_synonym="OR11-209"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGP9.1); glycosylation site"
     misc_feature    85..147
                     /gene="OR5AR1"
                     /gene_synonym="OR11-209"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP9.1);
                     transmembrane region"
     misc_feature    175..237
                     /gene="OR5AR1"
                     /gene_synonym="OR11-209"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP9.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR5AR1"
                     /gene_synonym="OR11-209"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP9.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR5AR1"
                     /gene_synonym="OR11-209"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP9.1);
                     transmembrane region"
     misc_feature    616..678
                     /gene="OR5AR1"
                     /gene_synonym="OR11-209"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP9.1);
                     transmembrane region"
     misc_feature    718..780
                     /gene="OR5AR1"
                     /gene_synonym="OR11-209"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP9.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR5AR1"
                     /gene_synonym="OR11-209"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP9.1);
                     transmembrane region"
ORIGIN
        1 atggataaag aaaacagctc aatggtgact gagtttatct tcatgggcat cacccaggac
       61 cctcagatgg agatcatctt cttcgtggtc ttcctcatag tttacctggt taatgtagtg
      121 gggaatattg gtatgattat cctgattaca acagacactc agcttcacac acccatgtat
      181 tttttcctct gcaacctctc ctttgttgac ctgggctact cctcagccat tgcccccagg
      241 atgctggctg acttcctaac aaatcacaaa gttatctcct tctccagctg tgccacccag
      301 tttgcttttt ttgtaggttt tgtggatgct gagtgctatg tcctggcagc catggcctat
      361 ggtcgttttg tggccatttg tcgacccctc cactatagca ccttcatgtc caagcaggtc
      421 tgcttggctc tcatgctggg ctcttacctg gctggtctag tgagtttagt agcccacact
      481 accctcacct tcagcctgag ttactgtggt tccaatatca tcaatcattt cttctgcgaa
      541 atcccaccac tcttggccct ctcttgctca gacacctaca tcagtgagat cttgctcttc
      601 agtctgtgtg gcttcattga attcagcacc atcctcatca tcttcatctc ctataccttt
      661 atccttgttg caatcatcag aatgcgttca gctgaaggcc gccttaaggc tttctccacc
      721 tgcgggtctc accttactgg catcaccctc ttctatggca cagtcatgtt tatgtacctg
      781 aggccaacat ccagctactc cctggaccaa gacaagtggg cctctgtgtt ctacacggtt
      841 atcatcccca tgttaaatcc cttgatctac agtttgcgga acaaggatgt gaaagctgct
      901 ttcaaaaagc taattggaaa aaaatctcaa taa
//
LOCUS       NM_001004731            1199 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily AU member 1
            (OR5AU1), mRNA.
ACCESSION   NM_001004731
VERSION     NM_001004731.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1199)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 1199)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript is intronless         :: BC137305.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000304418.5/ ENSP00000302057.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL157687.6.
            On May 17, 2019 this sequence version replaced NM_001004731.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1199
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1199
                     /gene="OR5AU1"
                     /gene_synonym="OR14-38"
                     /note="olfactory receptor family 5 subfamily AU member 1"
                     /db_xref="GeneID:390445"
                     /db_xref="HGNC:HGNC:15362"
     misc_feature    6..8
                     /gene="OR5AU1"
                     /gene_synonym="OR14-38"
                     /note="upstream in-frame stop codon"
     misc_feature    39..41
                     /gene="OR5AU1"
                     /gene_synonym="OR14-38"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MTEFHLQSQMPSIRLIFRRLSLGRIKPSQSPRCSTSFMVVPSFSIAEHWRR"
     misc_feature    66..68
                     /gene="OR5AU1"
                     /gene_synonym="OR14-38"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MPSIRLIFRRLSLGRIKPSQSPRCSTSFMVVPSFSIAEHWRR"
     misc_feature    150..152
                     /gene="OR5AU1"
                     /gene_synonym="OR14-38"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MVVPSFSIAEHWRR"
     CDS             192..1127
                     /gene="OR5AU1"
                     /gene_synonym="OR14-38"
                     /note="olfactory receptor OR14-38"
                     /codon_start=1
                     /product="olfactory receptor 5AU1"
                     /protein_id="NP_001004731.2"
                     /db_xref="CCDS:CCDS32042.2"
                     /db_xref="GeneID:390445"
                     /db_xref="HGNC:HGNC:15362"
                     /translation="MKGANLSQGMEFELLGLTTDPQLQRLLFVVFLGMYTATLLGNLVM
                     FLLIHVSATLHTPMYSLLKSLSFLDFCYSSTVVPQTLVNFLAKRKVISYFGCMTQMFFY
                     AGFATSECYLIAAMAYDRYAAICNPLLYSTIMSPEVCASLIVGSYSAGFLNSLIHTGCI
                     FSLKFCGAHVVTHFFCDGPPILSLSCVDTSLCEILLFIFAGFNLLSCTLTILISYFLIL
                     NTILKMSSAQGRFKAFSTCASHLTAICLFFGTTLFMYLRPRSSYSLTQDRTVAVIYTVV
                     IPVLNPLMYSLRNKDVKKALIKVWGRKTME"
ORIGIN
        1 ccaactaacc aaccaaccaa ggagaaaaga tcctctctat gacagagttt catctgcaaa
       61 gccaaatgcc ctcaataaga ctcatcttca gaaggctgtc cttaggcaga attaaaccca
      121 gtcagagccc caggtgttca acctcattta tggtggtgcc ttctttctcc atcgcagagc
      181 actggagaag gatgaaaggg gcaaacctga gccaagggat ggagtttgag ctcttgggcc
      241 tcaccactga cccccagctc cagaggctgc tcttcgtggt gttcctgggc atgtacacag
      301 ccactctgct ggggaacctg gtcatgttcc tcctgatcca tgtgagtgcc accctgcaca
      361 cacccatgta ctccctcctg aagagcctct ccttcttgga tttctgctac tcctccacgg
      421 ttgtgcccca gaccctggtg aacttcttgg ccaagaggaa agtgatctct tattttggct
      481 gcatgactca gatgttcttc tatgcgggtt ttgccaccag tgagtgctat ctcatcgctg
      541 ccatggccta tgaccgctat gccgctattt gtaaccccct gctctactca accatcatgt
      601 ctcctgaggt ctgtgcctcg ctgattgtgg gctcctacag tgcaggattc ctcaattctc
      661 ttatccacac tggctgtatc tttagtctga aattctgcgg tgctcatgtc gtcactcact
      721 tcttctgtga tgggccaccc atcctgtcct tgtcttgtgt agacacctca ctgtgtgaga
      781 tcctgctctt catttttgct ggtttcaacc ttttgagctg caccctcacc atcttgatct
      841 cctacttctt aattctcaac accatcctga aaatgagctc ggcccagggc aggtttaagg
      901 cattttccac ctgtgcatcc cacctcactg ccatctgcct cttctttggc acaacacttt
      961 ttatgtacct gcgccccagg tccagctact ccttgaccca ggaccgcaca gttgctgtca
     1021 tctacacagt ggtgatccca gtgctgaacc ccctcatgta ctctttgaga aacaaggatg
     1081 tgaagaaagc tttaataaag gtttggggta ggaaaacaat ggaatgattt ctcaatgcat
     1141 taccacatat ctttagaaag tcaagggaac ttttacctta ggtggtgtca ccctgagca
//
LOCUS       NM_001004732             945 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 14 subfamily K member 1
            (OR14K1), mRNA.
ACCESSION   NM_001004732
VERSION     NM_001004732.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 945)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 945)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 945)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
REFERENCE   4  (bases 1 to 945)
  AUTHORS   Glusman G, Yanai I, Rubin I and Lancet D.
  TITLE     The complete human olfactory subgenome
  JOURNAL   Genome Res 11 (5), 685-702 (2001)
   PUBMED   11337468
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000283225.2/ ENSP00000283225.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC118470.2.
            On Dec 6, 2006 this sequence version replaced NM_001004732.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..945
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..945
                     /gene="OR14K1"
                     /gene_synonym="OR1-39; OR1.5.9; OR5AY1"
                     /note="olfactory receptor family 14 subfamily K member 1"
                     /db_xref="GeneID:343170"
                     /db_xref="HGNC:HGNC:15025"
     CDS             1..945
                     /gene="OR14K1"
                     /gene_synonym="OR1-39; OR1.5.9; OR5AY1"
                     /note="olfactory receptor, family 5, subfamily AY, member
                     1; olfactory receptor OR1-39; olfactory receptor 5AY1"
                     /codon_start=1
                     /product="olfactory receptor 14K1"
                     /protein_id="NP_001004732.2"
                     /db_xref="CCDS:CCDS86064.1"
                     /db_xref="GeneID:343170"
                     /db_xref="HGNC:HGNC:15025"
                     /translation="MTNQTQMMEFLLVRFTENWVLLRLHALLFSLIYLTAVLMNLVIIL
                     LMILDHRLHMAMYFFLRHLSFLDLCLISATVPKSILNSVASTDSISFLGCVLQLFLVVL
                     LAGSEIGILTAMSYDRYAAICCPLHCEAVMSRGLCVQLMALSWLNRGALGLLYTAGTFS
                     LNFYGSDELHQFFCDVPALLKLTCSKEHAIISVSVAIGVCYAFSCLVCIVVSYVYIFSA
                     VLRISQRQRQSKAFSNCVPHLIVVTVFLVTGAVAYLKPGSDAPSILDLLVSVFYSVAPP
                     TLNPVIYCLKNKDIKSALSKVLWNVRSSGVMKR"
     misc_feature    7..9
                     /gene="OR14K1"
                     /gene_synonym="OR1-39; OR1.5.9; OR5AY1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGZ2.2); glycosylation site"
     misc_feature    70..132
                     /gene="OR14K1"
                     /gene_synonym="OR1-39; OR1.5.9; OR5AY1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ2.2);
                     transmembrane region"
     misc_feature    157..219
                     /gene="OR14K1"
                     /gene_synonym="OR1-39; OR1.5.9; OR5AY1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ2.2);
                     transmembrane region"
     misc_feature    292..354
                     /gene="OR14K1"
                     /gene_synonym="OR1-39; OR1.5.9; OR5AY1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ2.2);
                     transmembrane region"
     misc_feature    394..456
                     /gene="OR14K1"
                     /gene_synonym="OR1-39; OR1.5.9; OR5AY1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ2.2);
                     transmembrane region"
     misc_feature    583..645
                     /gene="OR14K1"
                     /gene_synonym="OR1-39; OR1.5.9; OR5AY1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ2.2);
                     transmembrane region"
     misc_feature    706..768
                     /gene="OR14K1"
                     /gene_synonym="OR1-39; OR1.5.9; OR5AY1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ2.2);
                     transmembrane region"
     misc_feature    808..870
                     /gene="OR14K1"
                     /gene_synonym="OR1-39; OR1.5.9; OR5AY1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ2.2);
                     transmembrane region"
ORIGIN
        1 atgaccaatc agacacagat gatggaattc ttgcttgtga gatttactga gaattgggtg
       61 ctcctgaggc tgcatgcttt gctcttctca ctgatctacc tcacggctgt gctgatgaat
      121 ttagtcatca ttctcctcat gattctggac catcgtctcc acatggcaat gtactttttc
      181 ctccgacatt tgtccttctt agacctgtgt ctcatttctg ccacagtccc caaatccatc
      241 ctcaactctg tcgcctccac tgactccatc tccttcctgg ggtgtgtgtt gcagctcttc
      301 ttggtggtac tgctggctgg atcagagatt ggcatcctta ctgccatgtc ctatgaccgc
      361 tatgctgcca tctgctgccc cctacactgt gaggctgtca tgagcagagg gctctgtgtc
      421 cagttgatgg ctctgtcctg gctcaacaga ggggccttgg gactcttgta cacagctgga
      481 acattctctc tgaattttta tggctctgat gagctacatc agttcttctg cgatgtccct
      541 gccctactaa agctcacttg ttctaaagaa catgccatca ttagtgtcag tgtggccatt
      601 ggggtctgtt atgcattttc atgtttagtt tgcattgtag tttcctatgt gtacattttc
      661 tctgctgtgt taaggatatc acagagacag agacaatcca aagccttttc caactgtgtg
      721 cctcacctca ttgttgtcac tgtgtttctt gtaacaggtg ctgttgctta tttaaagcca
      781 gggtctgatg caccttctat tctagacttg ctggtgtctg tgttctattc tgtcgcacct
      841 ccaaccttga accctgttat ctactgtctg aagaacaagg acattaaatc cgctctgagt
      901 aaagtcctgt ggaatgttag aagcagtggg gtaatgaaaa gatga
//
LOCUS       NM_001004733            1368 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily B member 12
            (OR5B12), mRNA.
ACCESSION   NM_001004733
VERSION     NM_001004733.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1368)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 1368)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641921.2/ ENSP00000493263.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP002345.4.
            On Jul 27, 2020 this sequence version replaced NM_001004733.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1368
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..1368
                     /gene="OR5B12"
                     /gene_synonym="OR11-241; OR5B12P; OR5B16; OST743"
                     /note="olfactory receptor family 5 subfamily B member 12"
                     /db_xref="GeneID:390191"
                     /db_xref="HGNC:HGNC:15432"
     misc_feature    202..204
                     /gene="OR5B12"
                     /gene_synonym="OR11-241; OR5B12P; OR5B16; OST743"
                     /note="upstream in-frame stop codon"
     CDS             211..1155
                     /gene="OR5B12"
                     /gene_synonym="OR11-241; OR5B12P; OR5B16; OST743"
                     /note="olfactory receptor, family 5, subfamily B, member 12
                     pseudogene; olfactory receptor, family 5, subfamily B,
                     member 16; olfactory receptor OR11-241; olfactory receptor
                     5B16"
                     /codon_start=1
                     /product="olfactory receptor 5B12"
                     /protein_id="NP_001004733.1"
                     /db_xref="CCDS:CCDS31551.1"
                     /db_xref="GeneID:390191"
                     /db_xref="HGNC:HGNC:15432"
                     /translation="MENNTEVTEFILVGLTDDPELQIPLFIVFLFIYLITLVGNLGMIE
                     LILLDSCLHTPMYFFLSNLSLVDFGYSSAVTPKVMVGFLTGDKFILYNACATQFFFFVA
                     FITAESFLLASMAYDRYAALCKPLHYTTTMTTNVCACLAIGSYICGFLNASIHTGNTFR
                     LSFCRSNVVEHFFCDAPPLLTLSCSDNYISEMVIFFVVGFNDLFSILVILISYLFIFIT
                     IMKMRSPEGRQKAFSTCASHLTAVSIFYGTGIFMYLRPNSSHFMGTDKMASVFYAIVIP
                     MLNPLVYSLRNKEVKSAFKKTVGKAKASIGFIF"
     misc_feature    217..219
                     /gene="OR5B12"
                     /gene_synonym="OR11-241; OR5B12P; OR5B16; OST743"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96R08.2); glycosylation site"
     misc_feature    280..342
                     /gene="OR5B12"
                     /gene_synonym="OR11-241; OR5B12P; OR5B16; OST743"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R08.2);
                     transmembrane region"
     misc_feature    367..429
                     /gene="OR5B12"
                     /gene_synonym="OR11-241; OR5B12P; OR5B16; OST743"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R08.2);
                     transmembrane region"
     misc_feature    502..564
                     /gene="OR5B12"
                     /gene_synonym="OR11-241; OR5B12P; OR5B16; OST743"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R08.2);
                     transmembrane region"
     misc_feature    622..684
                     /gene="OR5B12"
                     /gene_synonym="OR11-241; OR5B12P; OR5B16; OST743"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R08.2);
                     transmembrane region"
     misc_feature    793..855
                     /gene="OR5B12"
                     /gene_synonym="OR11-241; OR5B12P; OR5B16; OST743"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R08.2);
                     transmembrane region"
     misc_feature    916..978
                     /gene="OR5B12"
                     /gene_synonym="OR11-241; OR5B12P; OR5B16; OST743"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R08.2);
                     transmembrane region"
     misc_feature    991..993
                     /gene="OR5B12"
                     /gene_synonym="OR11-241; OR5B12P; OR5B16; OST743"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96R08.2); glycosylation site"
     misc_feature    1018..1080
                     /gene="OR5B12"
                     /gene_synonym="OR11-241; OR5B12P; OR5B16; OST743"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R08.2);
                     transmembrane region"
     regulatory      1341..1346
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR5B12"
                     /gene_synonym="OR11-241; OR5B12P; OR5B16; OST743"
                     /note="hexamer: AATAAA"
     polyA_site      1368
                     /gene="OR5B12"
                     /gene_synonym="OR11-241; OR5B12P; OR5B16; OST743"
                     /note="major polyA site"
ORIGIN
        1 tgattccaaa gccaatagca tttttctttc aatttccccc tgcctctaaa gaactttaag
       61 ccttttggcc aaacgctaaa gaacagtctc caaaaagttg ttttccttct ttaaaggact
      121 taatttctga tgtgacattc acttatatat gaaagtgctg gacctgaatt ttgtatttct
      181 cagggagaaa gggcagctac ataattccca atggagaaca acacagaggt gactgaattc
      241 atccttgtgg ggttaactga tgacccagaa ctgcagatcc cactcttcat agtcttcctt
      301 ttcatctacc tcatcactct ggttgggaac ctggggatga ttgaattgat tctactggac
      361 tcctgtctcc acacccccat gtacttcttc ctcagtaacc tctccctggt ggactttggt
      421 tattcctcag ctgtcactcc caaggtgatg gtggggtttc tcacaggaga caaattcata
      481 ttatataatg cttgtgccac acaattcttc ttctttgtag cctttatcac tgcagaaagt
      541 ttcctcctgg catcaatggc ctatgaccgc tatgcagcat tgtgtaaacc cctgcattac
      601 accaccacca tgacaacaaa tgtatgtgct tgcctggcca taggctccta catctgtggt
      661 ttcctgaatg catccattca tactgggaac actttcaggc tctccttctg tagatccaat
      721 gtagttgaac actttttctg tgatgctcct cctctcttga ctctctcatg ttcagacaac
      781 tacatcagtg agatggttat tttttttgtg gtgggattca atgacctctt ttctatcctg
      841 gtaatcttga tctcctactt atttatattt atcaccatca tgaagatgcg ctcacctgaa
      901 ggacgccaga aggccttttc tacttgtgct tcccacctta ctgcagtttc catcttttat
      961 gggacaggaa tctttatgta cttacgacct aactccagcc atttcatggg cacagacaaa
     1021 atggcatctg tgttctatgc catagtcatt cccatgttga atccactggt ctacagcctg
     1081 aggaacaaag aggttaagag tgcctttaaa aagactgtag ggaaggcaaa ggcctctata
     1141 ggattcatat tttaattata aagaattcac aataagataa ttttttccac ctcatattaa
     1201 tctttgtcta ccaagcccaa tatttgggct tcctcatgga cagtttctat tgactgtttt
     1261 cttaaacata tgaattggcc atactttctt cattctttaa gtgacacttt ttttgttgtt
     1321 aaaatctgga cattttaaat aataaaaaat agcatattct aaaaatca
//
LOCUS       NM_001004734            4520 bp    mRNA    linear   PRI 17-AUG-2023
DEFINITION  Homo sapiens olfactory receptor family 14 subfamily I member 1
            (OR14I1), mRNA.
ACCESSION   NM_001004734
VERSION     NM_001004734.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4520)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 4520)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.438533.1 [ECO:0000332]
            RNAseq introns :: partial sample support SAMEA2157437 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CR589904.4, AL672295.15 and AC098483.2.
            On Aug 2, 2023 this sequence version replaced NM_001004734.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4520
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..4520
                     /gene="OR14I1"
                     /gene_synonym="OR5BU1; OR5BU1P"
                     /note="olfactory receptor family 14 subfamily I member 1"
                     /db_xref="GeneID:401994"
                     /db_xref="HGNC:HGNC:19575"
                     /db_xref="MIM:618516"
     misc_feature    318..320
                     /gene="OR14I1"
                     /gene_synonym="OR5BU1; OR5BU1P"
                     /note="upstream in-frame stop codon"
     CDS             354..1289
                     /gene="OR14I1"
                     /gene_synonym="OR5BU1; OR5BU1P"
                     /note="olfactory receptor, family 5, subfamily BU, member 1
                     pseudogene; olfactory receptor 5BU1"
                     /codon_start=1
                     /product="olfactory receptor 14I1"
                     /protein_id="NP_001004734.1"
                     /db_xref="CCDS:CCDS31125.1"
                     /db_xref="GeneID:401994"
                     /db_xref="HGNC:HGNC:19575"
                     /db_xref="MIM:618516"
                     /translation="MDNLTKVTEFLLMEFSGIWELQVLHAGLFLLIYLAVLVGNLLIIA
                     VITLDQHLHTPMYFFLKNLSVLDLCYISVTVPKSIRNSLTRRSSISYLGCVAQVYFFSA
                     FASAELAFLTVMSYDRYVAICHPLQYRAVMTSGGCYQMAVTTWLSCFSYAAVHTGNMFR
                     EHVCRSSVIHQFFRDIPHVLALVSCEVFFVEFLTLALSSCLVLGCFILMMISYFQIFST
                     VLRIPSGQSRAKAFSTCSPQLIVIMLFLTTGLFAALGPIAKALSIQDLVIALTYTVLPP
                     FLNPIIYSLRNKEIKTAMWRLFVKIYFLQK"
     misc_feature    360..362
                     /gene="OR14I1"
                     /gene_synonym="OR5BU1; OR5BU1P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6ND48.1); glycosylation site"
     misc_feature    432..494
                     /gene="OR14I1"
                     /gene_synonym="OR5BU1; OR5BU1P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6ND48.1);
                     transmembrane region"
     misc_feature    519..581
                     /gene="OR14I1"
                     /gene_synonym="OR5BU1; OR5BU1P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6ND48.1);
                     transmembrane region"
     misc_feature    630..692
                     /gene="OR14I1"
                     /gene_synonym="OR5BU1; OR5BU1P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6ND48.1);
                     transmembrane region"
     misc_feature    777..839
                     /gene="OR14I1"
                     /gene_synonym="OR5BU1; OR5BU1P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6ND48.1);
                     transmembrane region"
     misc_feature    921..983
                     /gene="OR14I1"
                     /gene_synonym="OR5BU1; OR5BU1P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6ND48.1);
                     transmembrane region"
     misc_feature    1077..1139
                     /gene="OR14I1"
                     /gene_synonym="OR5BU1; OR5BU1P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6ND48.1);
                     transmembrane region"
     misc_feature    1161..1223
                     /gene="OR14I1"
                     /gene_synonym="OR5BU1; OR5BU1P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6ND48.1);
                     transmembrane region"
     regulatory      4501..4506
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR14I1"
                     /gene_synonym="OR5BU1; OR5BU1P"
                     /note="hexamer: AATAAA"
     polyA_site      4520
                     /gene="OR14I1"
                     /gene_synonym="OR5BU1; OR5BU1P"
                     /note="major polyA site"
ORIGIN
        1 cagcagagca ctaggagaac agcaggccca catcattctg gctttggcat ttgctctgag
       61 tgagccatga aagacatgcc tgcttcccct tcaccttcca ccgtgattgt aagtttcctg
      121 aggcccccca gccatgcttc ctgtacagcc tgcagaaccg tctgcttgtg tgcatctctt
      181 catttcaatg gctacgtcac gaatacctgc aagaaactat aatacattac aaggaattgg
      241 ccacgtggca gttttgtaga attttacatc taccgatagc aagctaaccc gggagatagt
      301 atactcctgt acactgctga ttctgctgga aggatcacag atttccctgc caaatggaca
      361 atctcacaaa agtgacagaa ttcctgctga tggagttttc tggtatctgg gagctgcagg
      421 tgctgcacgc cgggctgttt ctgctgattt atctggcagt gctggtgggg aacctgctca
      481 tcattgcagt catcactctc gatcagcatc ttcacacacc catgtacttc ttcctgaaga
      541 acctctccgt tttggatctg tgctacatct cagtcactgt gcctaaatcc atccgtaact
      601 ccctgactcg cagaagctcc atctcttatc ttggctgtgt ggctcaagtc tattttttct
      661 ctgcctttgc atctgctgag ctggccttcc ttactgtcat gtcttatgac cgctatgttg
      721 ccatttgcca ccccctccaa tacagagccg tgatgacatc aggagggtgc tatcagatgg
      781 cagtcaccac ctggctaagc tgcttttcct acgcagccgt ccacactggc aacatgtttc
      841 gggagcacgt ttgcagatcc agtgtgatcc accagttctt ccgtgacatc cctcatgtgt
      901 tggccctggt ttcctgtgag gttttctttg tagagttttt gaccctggcc ctgagctcat
      961 gcttggttct gggatgcttt attctcatga tgatctccta tttccaaatc ttctcaacgg
     1021 tgctcagaat cccttcagga cagagtcgag caaaagcctt ctccacctgc tccccccagc
     1081 tcattgtcat catgctcttt cttaccacag ggctctttgc tgccttagga ccaattgcaa
     1141 aagctctgtc cattcaggat ttagtgattg ctctgacata cacagttttg cctcccttcc
     1201 tcaatcccat catatatagt cttaggaata aggagattaa aacagccatg tggagactct
     1261 ttgtgaagat atattttctg caaaagtaga acatcctggt ctttactata gaagatctgc
     1321 aacaaaaccc caaaaaagca taaatacttt atgacaaaaa aagatgaaaa aattgttgat
     1381 gaaatgatga aaaatcctga aaaaaaaaac ctgttgaatg ggagaaagac aatatttgca
     1441 ctactatatg tagatagaaa tgcaaatgtt tcttcaaaaa ctaaaagtat aaaagtataa
     1501 aagtaccttc ataaaatatt tcaaggttgt gtaactgcag cttgttgtgg tgatttattc
     1561 cttcccattc cacacatgtt cgaactgctt taattacctc atcttgaacc tgtagccttg
     1621 cactcctgtt agtatgaatt ttttggaaga ggacacacac atacacacac acacacacac
     1681 acacacacac gcacacagtt ttagtacctg atttagccag tcaacaaaaa agaacataaa
     1741 acaagcagaa gggttattag aacaggaacg tatgttttag attttgccaa atattttaag
     1801 gatatttctc tttcacttag ttatttttag aaatctgtca ggaaattaac acaatttcca
     1861 tcaatgcatc tactgagatt gtcactgagt gcctcagttt ctgcatttgt gttagtattc
     1921 aatgtgttga tagaaacgga tctctttcct gggttttagt gcctcagttt ctacacctgt
     1981 gttaatattc aatgtgttaa tacatacaga gctctttcct gggtctgagt tcttggtcac
     2041 tgctggtgat tatcatcatc gccattgtca ttattttgtc agaacacctg agcgtgagtc
     2101 ccttggcaca tgggctgtct gccattctca ggtgactggg ctcgtgaaat gtacactggc
     2161 tattcctgat tttcacttga tgggatggga agaggattcg tggaaacact gatattctta
     2221 gttggttcag gataagagtc ttgatgtgtg aactgtcatt agcccatcgc agttgtgtgt
     2281 gaggctgacc tctccattag gcactggact ttacatccca aatctcactt ttactttcca
     2341 gagagattgc aaacaattgg gaaaatacaa taaaacataa aattctgtaa atataattct
     2401 tcgatatgct gccaaataaa aatttgtaaa attatttttt ctcattttta actatgcttt
     2461 tgtagttatc aatgtaatag atgtttattg ctttaaatgt ctttcttaaa aactgtcctg
     2521 ctttaatttt ataaaacaag gaaaaaagtt actcaaagtg ctacaacaca ggagaaagaa
     2581 ttctttgctt agacctatct atttgcaact attttatata aaattttact tgaatgctta
     2641 atatgtgttt tttcctgttc ttgaaagtac atttaaaaca ttaaatattg tttataattc
     2701 taaatgaatg taaatgtttt attgcataat aaaacctttg ttattaagct atcactgttt
     2761 ttctctcata agatgaacat ctgaaactat aagataattt gccatggatt aatattttta
     2821 cttaaataca gtcctagata agcaagtact ttcaccctca gtcttatgac cctgatgtca
     2881 gagaagccaa tggcccagga tggggaaaat gtgctagctt tcttcagctt ctagacctga
     2941 aatttatgga ggtggactca ggaccagcta tacctgataa ggctcaaatg acacctgtcc
     3001 caccagagca ggtgtgagtg ttcctgagtg actactcagg gttcttgagg tcaaggacta
     3061 ttttaaggga attttaggga gcaagttgac tcatcactta atgaaagagg caacagggct
     3121 tctaagaaag acaagcacat tataaatggt ttttaatccc ttttaatatt aagtagtata
     3181 ataaagcaca tagtataata tagcatatag ctatattaca tatattagta ctaaacatac
     3241 taatatatat tacaatatat attatattag tactaaacat caagcgacag aacatcacca
     3301 tcacggaagc cctcttgcca ctcctcccaa tcagcacaca ctccccacca aaaatattaa
     3361 cattattcta attttttaat gcttacgttg aactttaagt attcagaaaa gctgcaaaat
     3421 ttgtacagag tttttatgta gtgctcaccc agcttctcct aattttatac agagtttcac
     3481 ttatgtactt gtgtcattca tatttttctt gatccagagc ccctggcatt caacatttcc
     3541 attaagtaaa tttctagggt tgtaccattt ggggcaggag tagctgctca cctacatgaa
     3601 gtagttacaa ggatcaggat ctaacagctt tttatacaaa ttttagacaa gcctcctatt
     3661 tgaactgttt agaggtactt gattacttca acttcaagct tttggaggga ttcttctagt
     3721 ataattctgc aagcttctga gctgcttcta tgaccacatt aatattcagc ttttttagat
     3781 ctaagaagtc caattctaat tatttttttt tcagcctcca aaaatttctt gctgttatct
     3841 tctttcccaa actgttggcc tttgtgtatt tatgctttaa atataatagt tccttcagac
     3901 aatggtaaaa actcttgtct aaaaaaagaa atctgaaaat ttcttgtgtt ctctgccttt
     3961 atttttgaat gatactttag ctggatttag aattaaggct ttgtaggtaa cctgaaatta
     4021 tttcatagca catacaacaa ctataattaa tgaaatatgc gtgtaattta aaaatagaat
     4081 taaaacttca taaatttctt aacattttcc tttgagactt cctgtttgtc ctgtggatta
     4141 tttagaaaca tattgtttaa tttccaagta gttacagatt tttccagttg ttttcgtgta
     4201 attgacttcc aatttgattc agtgttgcca gagaaaacat tgcacatgat ttagaatctt
     4261 ttaaatttgt taaggtttat ttaatgatct gtgaaatggt ctatcttgct gactattcat
     4321 gagtctttga aataaaagta tattctgatg ttgaatggaa tgtcctcaaa gacattaaat
     4381 ctgttatcac aacatcccct gtggacaccc tcatgactac attagatacc ttagcttatt
     4441 tatatgttcc tgccttattg tcctttttgt cattatgtag tagctctata aaatatttgg
     4501 aataaaatat tgaatgcaaa
//
LOCUS       NM_001004735             945 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily D member 14
            (OR5D14), mRNA.
ACCESSION   NM_001004735
VERSION     NM_001004735.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 945)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 945)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335605.1/ ENSP00000334456.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC036111.7.
            On Sep 19, 2004 this sequence version replaced XM_166877.6.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..945
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q11"
     gene            1..945
                     /gene="OR5D14"
                     /gene_synonym="OR11-141; OR11-150"
                     /note="olfactory receptor family 5 subfamily D member 14"
                     /db_xref="GeneID:219436"
                     /db_xref="HGNC:HGNC:15281"
     CDS             1..945
                     /gene="OR5D14"
                     /gene_synonym="OR11-141; OR11-150"
                     /note="olfactory receptor OR11-141; olfactory receptor
                     OR11-150"
                     /codon_start=1
                     /product="olfactory receptor 5D14"
                     /protein_id="NP_001004735.1"
                     /db_xref="CCDS:CCDS31508.1"
                     /db_xref="GeneID:219436"
                     /db_xref="HGNC:HGNC:15281"
                     /translation="MMMVLRNLSMEPTFALLGFTDYPKLQIPLFLVFLLMYVITVVGNL
                     GMIIIIKINPKFHTPMYFFLSHLSFVDFCYSSIVTPKLLENLVMADKSIFYFSCMMQYF
                     LSCTAVVTESFLLAVMAYDRFVAICNPLLYTVAMSQRLCALLVAGSYLWGMFGPLVLLC
                     YALRLNFSGPNVINHFFCEYTALISVSGSDILIPHLLLFSFATFNEMCTLLIILTSYVF
                     IFVTVLKIRSVSGRHKAFSTWASHLTSITIFHGTILFLYCVPNSKNSRQTVKVASVFYT
                     VVNPMLNPLIYSLRNKDVKDAFWKLIHTQVPFH"
     misc_feature    19..21
                     /gene="OR5D14"
                     /gene_synonym="OR11-141; OR11-150"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGL3.1); glycosylation site"
     misc_feature    82..144
                     /gene="OR5D14"
                     /gene_synonym="OR11-141; OR11-150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL3.1);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR5D14"
                     /gene_synonym="OR11-141; OR11-150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL3.1);
                     transmembrane region"
     misc_feature    304..366
                     /gene="OR5D14"
                     /gene_synonym="OR11-141; OR11-150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL3.1);
                     transmembrane region"
     misc_feature    424..486
                     /gene="OR5D14"
                     /gene_synonym="OR11-141; OR11-150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL3.1);
                     transmembrane region"
     misc_feature    505..507
                     /gene="OR5D14"
                     /gene_synonym="OR11-141; OR11-150"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGL3.1); glycosylation site"
     misc_feature    595..657
                     /gene="OR5D14"
                     /gene_synonym="OR11-141; OR11-150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL3.1);
                     transmembrane region"
     misc_feature    718..780
                     /gene="OR5D14"
                     /gene_synonym="OR11-141; OR11-150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL3.1);
                     transmembrane region"
     misc_feature    820..882
                     /gene="OR5D14"
                     /gene_synonym="OR11-141; OR11-150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL3.1);
                     transmembrane region"
ORIGIN
        1 atgatgatgg ttttaaggaa tctgagcatg gagcccacct ttgccctttt aggtttcaca
       61 gattacccaa agcttcagat tcctctcttc cttgtgtttc tgctcatgta tgttatcaca
      121 gtggtaggaa accttgggat gatcataata atcaagatta accccaaatt tcacactcct
      181 atgtactttt tccttagtca cctctctttt gttgattttt gttactcttc cattgtcact
      241 cccaagctgc ttgagaactt ggtaatggca gataaaagca tcttctactt tagctgcatg
      301 atgcagtact tcctgtcctg cactgctgtg gtgacagagt ctttcttgct ggcagtgatg
      361 gcctatgacc gctttgtggc catctgcaat cctctgcttt atacagtggc catgtcacag
      421 aggctctgtg ccctgctggt ggctgggtca tatctctggg gcatgtttgg ccccttggta
      481 ctcctttgtt atgctctccg gttaaacttc tctggaccta atgtaatcaa ccacttcttt
      541 tgtgagtata ctgctctcat ctctgtgtct ggctctgata tactcatccc ccacctgctg
      601 cttttcagct tcgccacctt caatgagatg tgtacactac tgatcatcct cacttcctat
      661 gttttcattt ttgtgactgt actaaaaatc cgttctgtta gtgggcgcca caaagccttc
      721 tccacctggg cctcccacct gacttctatc accatcttcc atgggaccat ccttttcctt
      781 tactgtgtac ccaactccaa aaactctcgg caaacagtca aagtggcctc tgtattttac
      841 acagttgtca accccatgct gaaccctctg atctacagcc taaggaataa agacgtgaag
      901 gatgctttct ggaagttaat acatacacaa gttccatttc actga
//
LOCUS       NM_001004736            3466 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily K member 1
            (OR5K1), mRNA.
ACCESSION   NM_001004736
VERSION     NM_001004736.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3466)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3466)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 3466)
  AUTHORS   Parmentier M, Libert F, Schurmans S, Schiffmann S, Lefort A,
            Eggerickx D, Ledent C, Mollereau C, Gerard C, Perret J et al.
  TITLE     Expression of members of the putative olfactory receptor gene family
            in mammalian germ cells
  JOURNAL   Nature 355 (6359), 453-455 (1992)
   PUBMED   1370859
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642057.1/ ENSP00000493267.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC074274.15.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 6, 2020 this sequence version replaced NM_001004736.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3466
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     gene            1..3466
                     /gene="OR5K1"
                     /gene_synonym="HSHTPCRX10; HTPCRX10; OR3-8"
                     /note="olfactory receptor family 5 subfamily K member 1"
                     /db_xref="GeneID:26339"
                     /db_xref="HGNC:HGNC:8349"
     misc_feature    23..25
                     /gene="OR5K1"
                     /gene_synonym="HSHTPCRX10; HTPCRX10; OR3-8"
                     /note="upstream in-frame stop codon"
     CDS             119..1045
                     /gene="OR5K1"
                     /gene_synonym="HSHTPCRX10; HTPCRX10; OR3-8"
                     /note="olfactory receptor OR3-8"
                     /codon_start=1
                     /product="olfactory receptor 5K1"
                     /protein_id="NP_001004736.2"
                     /db_xref="CCDS:CCDS43115.1"
                     /db_xref="GeneID:26339"
                     /db_xref="HGNC:HGNC:8349"
                     /translation="MAEENHTMKNEFILTGFTDHPELKTLLFVVFFAIYLITVVGNISL
                     VALIFTHRRLHTPMYIFLGNLALVDSCCACAITPKMLENFFSENKRISLYECAVQFYFL
                     CTVETADCFLLAAMAYDRYVAICNPLQYHIMMSKKLCIQMTTGAFIAGNLHSMIHVGLV
                     FRLVFCGSNHINHFYCDILPLYRLSCVDPYINELVLFIFSGSVQVFTIGSVLISYLYIL
                     LTIFKMKSKEGRAKAFSTCASHFLSVSLFYGSLFFMYVRPNLLEEGDKDIPAAILFTIV
                     VPLLNPFIYSLRNREVISVLRKILMKK"
     misc_feature    131..133
                     /gene="OR5K1"
                     /gene_synonym="HSHTPCRX10; HTPCRX10; OR3-8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NHB7.2); glycosylation site"
     misc_feature    194..256
                     /gene="OR5K1"
                     /gene_synonym="HSHTPCRX10; HTPCRX10; OR3-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHB7.2);
                     transmembrane region"
     misc_feature    281..343
                     /gene="OR5K1"
                     /gene_synonym="HSHTPCRX10; HTPCRX10; OR3-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHB7.2);
                     transmembrane region"
     misc_feature    416..478
                     /gene="OR5K1"
                     /gene_synonym="HSHTPCRX10; HTPCRX10; OR3-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHB7.2);
                     transmembrane region"
     misc_feature    536..598
                     /gene="OR5K1"
                     /gene_synonym="HSHTPCRX10; HTPCRX10; OR3-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHB7.2);
                     transmembrane region"
     misc_feature    707..769
                     /gene="OR5K1"
                     /gene_synonym="HSHTPCRX10; HTPCRX10; OR3-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHB7.2);
                     transmembrane region"
     misc_feature    830..892
                     /gene="OR5K1"
                     /gene_synonym="HSHTPCRX10; HTPCRX10; OR3-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHB7.2);
                     transmembrane region"
     misc_feature    932..994
                     /gene="OR5K1"
                     /gene_synonym="HSHTPCRX10; HTPCRX10; OR3-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHB7.2);
                     transmembrane region"
ORIGIN
        1 ttctcctaaa tgatcaagaa gatagagctt aattgtgaga tctactttaa aaactgttat
       61 caggcaacct actggcccct ttaaaactct taccagggaa aattcagaca agtcaggaat
      121 ggctgaagaa aatcatacca tgaaaaatga gtttatcctc acaggattta cagatcaccc
      181 tgagctgaag actctgctgt ttgtggtgtt ctttgccatc tatctgatca ccgtggtggg
      241 gaatattagt ttggtggcac tgatatttac acaccgtcgg cttcacacac caatgtacat
      301 ctttctggga aatctggctc ttgtggattc ttgctgtgcc tgtgctatta cccccaaaat
      361 gttagagaac ttcttttctg agaacaaaag gatttccctc tatgaatgtg cagtacagtt
      421 ttattttctt tgcactgtgg aaactgcaga ctgctttctt ctggcagcaa tggcctatga
      481 ccgctatgtg gccatatgca acccactgca gtaccacatc atgatgtcca agaaactctg
      541 cattcagatg accacagggg ccttcatagc tggaaacctg cattccatga ttcatgtagg
      601 gcttgtattt aggttagttt tctgtggatc gaatcacatc aaccactttt actgtgatat
      661 tcttcccttg tatagactct cttgtgttga tccttatatc aatgaactgg ttctattcat
      721 cttctcaggt tcagttcaag tctttaccat aggtagtgtc ttaatatctt atctctatat
      781 tcttcttact attttcaaaa tgaaatccaa agagggaagg gccaaagctt tttctacctg
      841 tgcatcccac tttttgtcag tttcattatt ctatggatct cttttcttca tgtacgttag
      901 accaaatttg cttgaagaag gggataaaga tataccagct gcaattttat ttacaatagt
      961 agttccctta ctaaatcctt tcatttatag cctgagaaat agggaagtaa taagtgtctt
     1021 aagaaaaatt ctgatgaaga aataatctca agaaagatgg aaacaagtga catctactat
     1081 agcttaatga tttaaatgca gcaaaaactt ccatgtgaaa ttacacaggg gaaatgcata
     1141 aattataagt aaaattttaa tatataagaa tacattcaaa ttaagtggca agaggtaagg
     1201 gtagaatata caaaaaagag taaactgtgg taaatcttaa ttcaaaataa caaaaatgaa
     1261 attctaattt tgaactcatt caagtaacaa tgtagtatgt tgtcaagctc ttggtctgtg
     1321 ttggcatcag ggatgataag catccaaaag aacacagcaa aactggaagt tacaagttca
     1381 aaggaccatt ccattaagca ttgataacca gataagttat tttaatagct tagagcatga
     1441 gcattatggt taaactgaaa gagtttaaga tcatatgatg gtcaaccagt aaaatcactt
     1501 acatccatga gcaacaaaat tgtgacaagc gaattttgag aaatcaattt taatagcatt
     1561 atggggacat tactgtagtt agaaaggaag tattaggaaa acgaaggtgt caaataatag
     1621 tgaatatcag atttccaaat ttaaattatt actgagttaa atattaaaca cagaatgtca
     1681 attttcaagt caagctacat taagagagtt ttatctactc ccatatctac ctgcataaat
     1741 ataccataac acaaacttcc agaaaagcag ttcaaacctc atgtaggatt tgaagagctt
     1801 ctttgttagt gagttaggtg caatgtctct gtgctcctac ttgagaggtg aggaaaggtt
     1861 tcaacaatag agaccactac cctgggtata ttatatatag aaatgtaaaa catagtgttg
     1921 ttaaactgta ggtagagttt atctaatttt tttttctttt cactattgca aaacctgaag
     1981 ttggtattgt gggtagagta atgatcttaa tgtgatatca ttttaaaaat tactttccaa
     2041 ttattcactc aacatatatt tattgaaatc ctgctatagg taggcattgt tctgggtgtt
     2101 gggccatatc agttacaaaa aatgccagtt tttccatctt ctcgaagaat agaatattgc
     2161 cacaattttt attactaact tctggattaa gaaggaccta tgtcacataa tagaaaaaca
     2221 tctcccttcc acctcttgct ctgaggacct gtctaaattc ccagaaagca attgtcaagt
     2281 gctccaggtt agccagccac cagaggctgg catcacagga aaaatcaata tgctgagtct
     2341 gtacagaaaa agtaatagga gagcagatga atttccaatt ccctaactca tcaatgcaaa
     2401 aatataacca cctagttttt ctttgtaacc tccaagaaaa tctaacctag ttcattccaa
     2461 ttatacttgg acatgtgaag atcttgtttg tttcaaatta aattccatca atttaggatt
     2521 tacccaacac tacctacatc cttccttcat cacatatagg tccttgcctg gtatcatggc
     2581 actgagcaca ggtgccagat tatatatgag ctctgtccaa gctatgattc tgtgagatgt
     2641 ttgagcctat ttgacccgtt ggttatttct tcatgccacc atcacttcag gtatctacgt
     2701 ccatgtctac tcctcaggct gcattgattt tcagctaaaa tgtctattta tccaacccac
     2761 aaggctttgg gttggctggc tctctctctc ttactcttca tctgctaatt tctgagtaaa
     2821 ttctcttgac ctcttcccag tgggtccagg aaatgttgaa atgcatcatt tttgcacttc
     2881 cgatgctaca caataccagt acaatgtagg attttgaaag cttacatggg tcccttttga
     2941 aggtcccttt tgcacatagg tcaccaaacc tccctgagca attgtcaccc cactcccatg
     3001 ccaggacacc ccctgggaat tgaaaccaca gaaccttttc caggcaacac gaactcttcc
     3061 cttcttgatg ttgctttttt tcccaactga ctgaatcctt aattctagga tgatacttag
     3121 ttttcacatc attacaaatg tttcccaaat gtacttttat ggagtaaaat tggactcaaa
     3181 aatgagactc tgtcttagtc tattctctct gtctggaata tcaaaggtat gctcagaaat
     3241 aaaaaaaaag tgagggataa cactgttgta tggctctggc ctccttttct tatatcaaaa
     3301 aatgtgaact gccctggtta ctgtctgaaa cggcaggcat agttattggg taagacagaa
     3361 ttacaggcag gctttatctg agaattactg gttatgggag aaaaatatct gataaaatga
     3421 atatttttaa aatctcgact cattttatgg tatgcagagg aaaaca
//
LOCUS       NM_001004737             951 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily K member 2
            (OR5K2), mRNA.
ACCESSION   NM_001004737
VERSION     NM_001004737.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 951)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 951)
  AUTHORS   Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ,
            Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris
            RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM,
            Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A,
            Miner GR, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ,
            Steffen D, Wei S, Wheeler DA, Wright MW, Worley KC, Yuan Y, Zhang Z,
            Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z,
            Clendenning J, Clerc-Blankenburg KP, Chen R, Chen Z, Davis C,
            Delgado O, Dinh HH, Dong W, Draper H, Ernst S, Fu G, Gonzalez-Garay
            ML, Garcia DK, Gillett W, Gu J, Hao B, Haugen E, Havlak P, He X,
            Hennig S, Hu S, Huang W, Jackson LR, Jacob LS, Kelly SH, Kube M,
            Levy R, Li Z, Liu B, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV,
            Okwuonu GO, Palmeiri A, Pasternak S, Perez LM, Phelps KA, Plopper
            FJ, Qiang B, Raymond C, Rodriguez R, Saenphimmachak C, Santibanez J,
            Shen H, Shen Y, Subramanian S, Tabor PE, Verduzco D, Waldron L, Wang
            J, Wang J, Wang Q, Williams GA, Wong GK, Yao Z, Zhang J, Zhang X,
            Zhao G, Zhou J, Zhou Y, Nelson D, Lehrach H, Reinhardt R, Naylor SL,
            Yang H, Olson M, Weinstock G and Gibbs RA.
  TITLE     The DNA sequence, annotation and analysis of human chromosome 3
  JOURNAL   Nature 440 (7088), 1194-1198 (2006)
   PUBMED   16641997
REFERENCE   3  (bases 1 to 951)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000427338.3/ ENSP00000393889.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065457.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..951
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     gene            1..951
                     /gene="OR5K2"
                     /gene_synonym="OR3-9"
                     /note="olfactory receptor family 5 subfamily K member 2"
                     /db_xref="GeneID:402135"
                     /db_xref="HGNC:HGNC:14774"
     CDS             1..951
                     /gene="OR5K2"
                     /gene_synonym="OR3-9"
                     /note="olfactory receptor OR3-9"
                     /codon_start=1
                     /product="olfactory receptor 5K2"
                     /protein_id="NP_001004737.1"
                     /db_xref="CCDS:CCDS33804.1"
                     /db_xref="GeneID:402135"
                     /db_xref="HGNC:HGNC:14774"
                     /translation="MVEENHTMKNEFILTGFTDHPELKTLLFVVFFAIYLITVVGNISL
                     VALIFTHCRLHTPMYIFLGNLALVDSCCACAITPKMLENFFSEGKRISLYECAVQFYFL
                     CTVETADCFLLAAVAYDRYVAICNPLQYHIMMSKKLCIQMTTGAFIAGNLHSMIHVGLV
                     FRLVFCGLNHINHFYCDTLPLYRLSCVDPFINELVLFIFSGSVQVFTIGSVLISYLYIL
                     LTIFRMKSKEGRAKAFSTCASHFSSVSLFYGSIFFLYIRPNLLEEGGNDIPAAILFTIV
                     VPLLNPFIYSLRNKEVISVLRKILLKIKSQGSVNK"
     misc_feature    13..15
                     /gene="OR5K2"
                     /gene_synonym="OR3-9"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NHB8.3); glycosylation site"
     misc_feature    76..138
                     /gene="OR5K2"
                     /gene_synonym="OR3-9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHB8.3);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR5K2"
                     /gene_synonym="OR3-9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHB8.3);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR5K2"
                     /gene_synonym="OR3-9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHB8.3);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR5K2"
                     /gene_synonym="OR3-9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHB8.3);
                     transmembrane region"
     misc_feature    589..651
                     /gene="OR5K2"
                     /gene_synonym="OR3-9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHB8.3);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR5K2"
                     /gene_synonym="OR3-9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHB8.3);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR5K2"
                     /gene_synonym="OR3-9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHB8.3);
                     transmembrane region"
ORIGIN
        1 atggttgaag aaaatcatac catgaaaaat gagtttatcc tcacaggatt tacagatcac
       61 cctgagctga agactctgct gtttgtggtg ttctttgcca tctatctgat caccgtggtg
      121 gggaatatta gtttggtggc actgatattt acacactgtc ggcttcacac accaatgtac
      181 atctttctgg gaaatctggc tcttgtggat tcttgctgtg cctgtgctat tacccccaaa
      241 atgttagaga acttcttttc tgagggcaaa aggatttccc tctatgaatg tgcagtacag
      301 ttttattttc tttgcactgt ggaaactgca gactgctttc ttctggcagc agtggcctat
      361 gaccgctatg tggccatctg caacccactg cagtaccaca tcatgatgtc caagaaactc
      421 tgcattcaga tgaccacagg cgccttcata gctggaaatc tgcattccat gattcatgta
      481 gggcttgtat ttaggttagt tttctgtgga ttgaatcaca tcaaccactt ttactgtgat
      541 actcttccct tgtatagact ctcctgtgtt gaccctttca tcaatgaact ggttctattc
      601 atcttctcag gttcagttca agtctttacc ataggtagtg tcttaatatc ttatctctat
      661 attcttctta ctattttcag aatgaaatcc aaggagggaa gggccaaagc cttttctact
      721 tgtgcatccc acttttcatc agtttcatta ttctatggat ctattttttt cctatacatt
      781 agaccaaatt tgcttgaaga aggaggtaat gatataccag ctgctatttt atttacaata
      841 gtagttccct tactaaatcc tttcatttat agtctgagaa acaaggaagt aataagtgtc
      901 ttaagaaaaa ttctgctgaa aataaaatct caaggaagtg tgaacaaatg a
//
LOCUS       NM_001004738            1110 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily L member 1
            (OR5L1), mRNA.
ACCESSION   NM_001004738
VERSION     NM_001004738.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1110)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1110)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1110)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136939.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000625203.2/ ENSP00000485319.1
            polymorphic pseudogene   :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC136939.1 and AC036111.7.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 20, 2016 this sequence version replaced NM_001004738.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be non-functional as an olfactory receptor
            according to the Classifier for Olfactory Receptor Pseudogenes.
FEATURES             Location/Qualifiers
     source          1..1110
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..1110
                     /gene="OR5L1"
                     /gene_synonym="OR11-151; OST262"
                     /note="olfactory receptor family 5 subfamily L member 1"
                     /db_xref="GeneID:219437"
                     /db_xref="HGNC:HGNC:8350"
     misc_feature    89..91
                     /gene="OR5L1"
                     /gene_synonym="OR11-151; OST262"
                     /note="upstream in-frame stop codon"
     CDS             101..1036
                     /gene="OR5L1"
                     /gene_synonym="OR11-151; OST262"
                     /note="olfactory receptor OR11-151"
                     /codon_start=1
                     /product="olfactory receptor 5L1"
                     /protein_id="NP_001004738.1"
                     /db_xref="GeneID:219437"
                     /db_xref="HGNC:HGNC:8350"
                     /translation="MGKENCTTVAEFILLGLSDVPELRVCLFLLFLLIYGVTLLANLGM
                     IALIQVSSRLHTPMYFFLSHLSSVDFCYSSIIVPKMLANIFNKDKAISFLGCMVQFYLF
                     CTCVVTEVFLLAVMAYDRFVAICNPLLYTVTMSWKVRVELASCCYFCGTVCSLIHLCLA
                     LRIPFYRSNVINHFFCDLPPVLSLACSDITVNETLLFLVATLNESVTIMIILTSYLLIL
                     TTILKMGSAEGRHKAFSTCASHLTAITVFHGTVLSIYCRPSSGNSGDADKVATVFYTVV
                     IPMLNSVIYSLRNKDVKEALRKVMGSKIHS"
     misc_feature    113..115
                     /gene="OR5L1"
                     /gene_synonym="OR11-151; OST262"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGL2.1); glycosylation site"
     misc_feature    176..238
                     /gene="OR5L1"
                     /gene_synonym="OR11-151; OST262"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL2.1);
                     transmembrane region"
     misc_feature    263..325
                     /gene="OR5L1"
                     /gene_synonym="OR11-151; OST262"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL2.1);
                     transmembrane region"
     misc_feature    398..460
                     /gene="OR5L1"
                     /gene_synonym="OR11-151; OST262"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL2.1);
                     transmembrane region"
     misc_feature    518..580
                     /gene="OR5L1"
                     /gene_synonym="OR11-151; OST262"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL2.1);
                     transmembrane region"
     misc_feature    683..685
                     /gene="OR5L1"
                     /gene_synonym="OR11-151; OST262"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGL2.1); glycosylation site"
     misc_feature    689..751
                     /gene="OR5L1"
                     /gene_synonym="OR11-151; OST262"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL2.1);
                     transmembrane region"
     misc_feature    812..874
                     /gene="OR5L1"
                     /gene_synonym="OR11-151; OST262"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL2.1);
                     transmembrane region"
     misc_feature    914..976
                     /gene="OR5L1"
                     /gene_synonym="OR11-151; OST262"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL2.1);
                     transmembrane region"
ORIGIN
        1 ggtgtctttt tacaggatac agccaaaact aaaatttaga ctatataatg gagaataatt
       61 tttaagtttc ttttcctcca atctcatata aattggagac atgggcaagg aaaactgcac
      121 cactgtggct gagttcattc tccttggact atcagatgtc cctgagttga gagtctgcct
      181 cttcctgctg ttccttctca tctatggagt cacgttgtta gccaacctgg gcatgattgc
      241 actgattcag gtcagctctc ggctccacac ccccatgtac tttttcctca gccacttgtc
      301 ctctgtagat ttctgctact cctcaataat tgtgccaaaa atgttggcta atatctttaa
      361 caaggacaaa gccatctcct tcctagggtg catggtgcaa ttctacttgt tttgcacttg
      421 tgtggtcact gaggtcttcc tgctggccgt gatggcctat gaccgctttg tggccatctg
      481 taaccctttg ctatacacag tcaccatgtc ttggaaggtg cgtgtggagc tggcttcttg
      541 ctgctacttc tgtgggacgg tgtgttctct gattcatttg tgcttagctc ttaggatccc
      601 cttctataga tctaatgtga ttaaccactt tttctgtgat ctacctcctg tcttaagtct
      661 tgcttgctct gatatcactg tgaatgagac actgctgttc ctggtggcca ctttgaatga
      721 gagtgttacc atcatgatca tcctcacctc ctacctgcta attctcacca ccatcctgaa
      781 gatgggctct gcagagggca ggcacaaagc cttctccacc tgtgcttccc acctcacagc
      841 tatcactgtc ttccatggaa cagtcctttc catttattgc aggcccagtt caggcaatag
      901 tggagatgct gacaaagtgg ccaccgtgtt ctacacagtc gtgattccta tgctgaactc
      961 tgtgatctac agcctgagaa ataaagatgt gaaagaagct ctcagaaaag tgatgggctc
     1021 caaaattcac tcctagggaa gattttatta gcacaattca ggattcccaa gtagtggcag
     1081 gcgggggttc acgggagagg cacagtgttg
//
LOCUS       NM_001004739             936 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily L member 2
            (OR5L2), mRNA.
ACCESSION   NM_001004739
VERSION     NM_001004739.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 936)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 936)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
REFERENCE   3  (bases 1 to 936)
  AUTHORS   Parmentier M, Libert F, Schurmans S, Schiffmann S, Lefort A,
            Eggerickx D, Ledent C, Mollereau C, Gerard C, Perret J et al.
  TITLE     Expression of members of the putative olfactory receptor gene family
            in mammalian germ cells
  JOURNAL   Nature 355 (6359), 453-455 (1992)
   PUBMED   1370859
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378397.1/ ENSP00000367650.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC036111.7.
            On Sep 19, 2004 this sequence version replaced XM_372387.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..936
                     /gene="OR5L2"
                     /gene_synonym="HSHTPCRX16; HTPCRX16; OR11-153"
                     /note="olfactory receptor family 5 subfamily L member 2"
                     /db_xref="GeneID:26338"
                     /db_xref="HGNC:HGNC:8351"
     CDS             1..936
                     /gene="OR5L2"
                     /gene_synonym="HSHTPCRX16; HTPCRX16; OR11-153"
                     /note="olfactory receptor, family 5, subfamily L, member 1;
                     olfactory receptor OR11-153"
                     /codon_start=1
                     /product="olfactory receptor 5L2"
                     /protein_id="NP_001004739.1"
                     /db_xref="CCDS:CCDS31511.1"
                     /db_xref="GeneID:26338"
                     /db_xref="HGNC:HGNC:8351"
                     /translation="MGKENCTTVAEFILLGLSDVPELRVCLFLLFLLIYGVTLLANLGM
                     TALIQVSSRLHTPVYFFLSHLSFVDFCYSSIIVPKMLANIFNKDKAISFLGCMVQFYLF
                     CTCGVTEVFLLAVMAYDRFVAICNPLLYMVTMSQKLRVELTSCCYFCGTVCSLIHSSLA
                     LRILFYRSNVINHFFCDLPPLLSLACSDVTVNETLLFLVATLNESVTIMIILTSYLLIL
                     TTILKIHSAESRHKAFSTCASHLTAITVSHGTILYIYCRPSSGNSGDVDKVATVFYTVV
                     IPMLNPLIYSLRNKDVNKALRKVMGSKIHS"
     misc_feature    13..15
                     /gene="OR5L2"
                     /gene_synonym="HSHTPCRX16; HTPCRX16; OR11-153"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGL0.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR5L2"
                     /gene_synonym="HSHTPCRX16; HTPCRX16; OR11-153"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL0.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR5L2"
                     /gene_synonym="HSHTPCRX16; HTPCRX16; OR11-153"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL0.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR5L2"
                     /gene_synonym="HSHTPCRX16; HTPCRX16; OR11-153"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL0.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR5L2"
                     /gene_synonym="HSHTPCRX16; HTPCRX16; OR11-153"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL0.1);
                     transmembrane region"
     misc_feature    583..585
                     /gene="OR5L2"
                     /gene_synonym="HSHTPCRX16; HTPCRX16; OR11-153"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGL0.1); glycosylation site"
     misc_feature    589..651
                     /gene="OR5L2"
                     /gene_synonym="HSHTPCRX16; HTPCRX16; OR11-153"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL0.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR5L2"
                     /gene_synonym="HSHTPCRX16; HTPCRX16; OR11-153"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL0.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR5L2"
                     /gene_synonym="HSHTPCRX16; HTPCRX16; OR11-153"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGL0.1);
                     transmembrane region"
ORIGIN
        1 atgggcaagg aaaactgcac cactgtggct gagttcattc tccttggact atcagatgtc
       61 cctgagttga gagtctgcct cttcctgctg ttccttctca tctatggagt cacgttgtta
      121 gccaatctgg gcatgactgc actgattcag gtcagctctc ggctccacac ccccgtgtac
      181 tttttcctca gccacttgtc ctttgtagat ttctgctact cctcaataat tgtgccaaag
      241 atgttggcta atatctttaa caaggacaaa gccatctcct tcctagggtg catggtgcaa
      301 ttctacttgt tttgcacatg tggagtcact gaggtcttcc tgctggccgt gatggcctat
      361 gaccgctttg tggccatctg taaccccctg ctgtacatgg tgaccatgtc tcagaagctg
      421 cgtgtggagc tgacctcttg ctgctacttc tgtgggacgg tgtgttctct gattcactcg
      481 tccttagctc ttaggatcct cttctataga tctaatgtga ttaaccactt cttctgtgat
      541 ctaccccctc tcctaagtct tgcttgctct gatgtcactg tgaatgagac actgctgttc
      601 ctggtggcca ctttgaatga gagtgttacc atcatgatca tcctcacctc ctacctgcta
      661 attctcacca ctatcctgaa gatacactct gcagagagca ggcacaaagc tttctccacc
      721 tgtgcctccc acctcacagc catcactgtc tcccatggaa caatccttta catttattgc
      781 aggccgagtt caggcaacag tggagatgtt gacaaagtgg ccaccgtgtt ctacacagtt
      841 gtgattccca tgctgaaccc cctgatctac agcctgagaa ataaggatgt gaacaaagct
      901 ctcagaaaag tgatgggctc caaaattcac tcctag
//
LOCUS       NM_001004740            4302 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily M member 1
            (OR5M1), mRNA.
ACCESSION   NM_001004740
VERSION     NM_001004740.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4302)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 4302)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641076.1/ ENSP00000493124.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP002517.3.
            On Jul 24, 2020 this sequence version replaced NM_001004740.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..4302
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..4302
                     /gene="OR5M1"
                     /gene_synonym="OR11-208; OST050"
                     /note="olfactory receptor family 5 subfamily M member 1"
                     /db_xref="GeneID:390168"
                     /db_xref="HGNC:HGNC:8352"
     CDS             36..983
                     /gene="OR5M1"
                     /gene_synonym="OR11-208; OST050"
                     /note="olfactory receptor OR11-208; seven transmembrane
                     helix receptor"
                     /codon_start=1
                     /product="olfactory receptor 5M1"
                     /protein_id="NP_001004740.1"
                     /db_xref="CCDS:CCDS53631.1"
                     /db_xref="GeneID:390168"
                     /db_xref="HGNC:HGNC:8352"
                     /translation="MFSPNHTIVTEFILLGLTDDPVLEKILFGVFLAIYLITLAGNLCM
                     ILLIRTNSHLQTPMYFFLGHLSFVDICYSSNVTPNMLHNFLSEQKTISYAGCFTQCLLF
                     IALVITEFYILASMALDRYVAICSPLHYSSRMSKNICVCLVTIPYMYGFLSGFSQSLLT
                     FHLSFCGSLEINHFYCADPPLIMLACSDTRVKKMAMFVVAGFNLSSSLFIILLSYLFIF
                     AAIFRIRSAEGRHKAFSTCASHLTIVTLFYGTLFCMYVRPPSEKSVEESKITAVFYTFL
                     SPMLNPLIYSLRNTDVILAMQQMIRGKSFHKIAV"
     misc_feature    48..50
                     /gene="OR5M1"
                     /gene_synonym="OR11-208; OST050"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGP8.1); glycosylation site"
     misc_feature    111..173
                     /gene="OR5M1"
                     /gene_synonym="OR11-208; OST050"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP8.1);
                     transmembrane region"
     misc_feature    198..260
                     /gene="OR5M1"
                     /gene_synonym="OR11-208; OST050"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP8.1);
                     transmembrane region"
     misc_feature    333..395
                     /gene="OR5M1"
                     /gene_synonym="OR11-208; OST050"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP8.1);
                     transmembrane region"
     misc_feature    453..515
                     /gene="OR5M1"
                     /gene_synonym="OR11-208; OST050"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP8.1);
                     transmembrane region"
     misc_feature    624..686
                     /gene="OR5M1"
                     /gene_synonym="OR11-208; OST050"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP8.1);
                     transmembrane region"
     misc_feature    747..809
                     /gene="OR5M1"
                     /gene_synonym="OR11-208; OST050"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP8.1);
                     transmembrane region"
     misc_feature    849..911
                     /gene="OR5M1"
                     /gene_synonym="OR11-208; OST050"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP8.1);
                     transmembrane region"
ORIGIN
        1 gtccattaac attaacagtt tcaagagata agaagatgtt ctccccaaac cacaccatag
       61 tgacagaatt cattctcttg ggactgacag acgacccagt gctagagaag atcctgtttg
      121 gggtattcct tgcgatctac ctaatcacac tggcaggcaa cctgtgcatg atcctgctga
      181 tcaggaccaa ttcccacctg caaacaccca tgtatttctt ccttggccac ctctcctttg
      241 tagacatttg ctattcttcc aatgttactc caaatatgct gcacaatttc ctctcagaac
      301 agaagaccat ctcctacgct ggatgcttca cacagtgtct tctcttcatc gccctggtga
      361 tcactgagtt ttacatcctt gcttcaatgg cattggatcg ctatgtagcc atttgcagcc
      421 ctttgcatta cagttccagg atgtccaaga acatctgtgt ctgtctggtc actatccctt
      481 acatgtatgg gtttcttagt gggttctctc agtcactgct aacctttcac ttatccttct
      541 gtggctccct tgaaatcaat catttctact gcgctgatcc tcctcttatc atgctggcct
      601 gctctgacac ccgtgtcaaa aagatggcaa tgtttgtagt tgcaggcttt aatctctcaa
      661 gctctctctt catcattctt ctgtcctatc ttttcatttt tgcagcgatc ttcaggatcc
      721 gttctgctga aggcaggcac aaagcctttt ctacgtgtgc ttcccacctg acaatagtca
      781 ctttgtttta tggaaccctc ttctgcatgt acgtaaggcc tccatcagag aagtctgtag
      841 aggagtccaa aataactgca gtcttttata cttttttgag cccaatgctg aacccattga
      901 tctatagcct acggaacaca gatgtaatcc ttgccatgca acaaatgatt aggggaaaat
      961 cctttcataa aattgcagtt taggcttgtg tttatttgca gtcacgaatt gcttgtggag
     1021 taacaaactg gcttttgaaa tggaaaaacc tagtgtagtc gtgatttatt taacatcatg
     1081 gactgtcagt aaccacttta ctttcttatc caaatgaaaa ccttgaagat tgatttctta
     1141 gaaataaaag ccttaatgtt gagaaattta aaatgtttta tttgtcagaa attctatgaa
     1201 aataaatttt ttagtatcta ataattctat atgaaaatac tatgtttact tacttggggg
     1261 gtgggtaaat ttttaactaa cttaggctga gagaaattct gaaaattcat ctcctttgaa
     1321 tatgatggtc cacagagcca taatgaggtt caagataggg tggataattt tacacttttt
     1381 aaaaaatgaa attatttcta cttcaatatg gtgtcttgaa caatagctca gctacctttg
     1441 tgcttattgt aatcaatgtg caaaaaatat aaatatatgg gtcactgata cgttaaattt
     1501 gctgtaagtg ttccccaaac ccatcttgta aatatcttga gaagcttctt ttttgttcat
     1561 atgataatac tggttatcgt ccttgattct gaaaatcaac tctcaacacc tttttatgag
     1621 tttccaagtg tatggatcca attctatcat caaactactt taactgcatt ccagttatgt
     1681 tttccagtgc cgtacctctg acttaggact aattcagtag gagtcaatag ggtctattaa
     1741 ctgccctgtg catacccaca aatgtcttga aacagtatac aaataaatag gggtgtatat
     1801 atgtttctgg aggaaatact cagtgtttat tttgcttcat gaagctttct gtggcccatt
     1861 atttttaaaa taagggtgtt ctagtagttc ttgaagctgc tatagagaaa atcaatctca
     1921 gagaggctac ctaaggagac acattaatcc atgcattatt agtcaaccag atgactgcat
     1981 attgatacat atgtatttag ccctaataaa ttgcctcata tgtttggcat tttaatattt
     2041 tgcactctga tattaactaa caccatacag aatatgctac agaaaatgtc tgtatgatat
     2101 caactactat atctactata aagtgttcaa atggttttcc agaatattaa gcagatgact
     2161 tgcagttttt gtaaaatggg ggcatattct tgagtctcat ttgattaagt ctgtttctag
     2221 ccaaatcctc tttcagaaac agtatctgaa aaagaaggaa ggcaaatttc ggtgacaaga
     2281 atttaacaat tacattttag cactgtttgt ttttgtattt gcttggtttt ggcaatgatg
     2341 gtgggacaac agaggaaggt catctgcaga gacaacaatg aagcagaaaa gctgggaatt
     2401 gagtgacaca gagtcctcac ttcctttttg agggccagca tcatttcatc ggtggggtat
     2461 ttctttattt tatgagaaat ttccatctat taggcaaagc attgtattcc atttctggca
     2521 agcagaatgg tctcatatcc agatttgaaa ccctatttga aaattggatt ttagaatgag
     2581 tgcaaaaaat actctatatt tggcctaaat aactgtacga ttccatttat tttctagtta
     2641 tgagaattgc tctggcttgc agcaaccatt tttaaacttt gacatccttt tagtcaaaat
     2701 gactgacctg tttctaattg atttttaata aaatatttta tttatttcta tttgtgattt
     2761 aattttttcc ttctgcatgt ctttgggtaa aagtcacctc agaaattctt tggagatagg
     2821 atagaacata aatcgacatg aataaaagta attataagag ttgcagtcac agtgtagtgc
     2881 tgattttagg aacactttat tttaatcttc ataaatgaaa taatgagaga attattatct
     2941 ccatttacaa cattggagcc tgaggcacgg agagattaaa tttcttgccc aaagtcattt
     3001 ggccactcag taggacaaaa gcaggtttct tggtttcaaa ttctctctct ttctaattca
     3061 tactgtagtt gttattaaag aaattctcaa aacactgcaa atgcttggtg gaatgttgga
     3121 gattatgaat tgatgagatt attgctatag atgaaatagt ggttattatg tgatagttat
     3181 atgtatccta agaatagcta atgagaattt cccttgaaaa ttccggttaa cataatttat
     3241 aggcattata attaaaattg tcttaacgtc catgtgaagg gagaaaattt tgatatacag
     3301 aagacatata tgctatttag gctgcatttt attaatatat tttcccagtc gcaaaggcat
     3361 acatattcat attaattaat taccaggtac agacaaatat gagggagtaa aatttatgag
     3421 ggatctgtcc tgtgacaaag gatacatttt ctttatattt tgttacattt cttctcaata
     3481 agtttatatg cgtacatgtt actaaaatgc atcaagcaaa tgtgaaatca cttatcatat
     3541 acaaatttga acactgattt tcacttgata taatgtatgc acctttatat agattaaata
     3601 tttctgatga acatcatgtt gaatgtcata taatagttag atcatatgac cttaatacaa
     3661 taataataca tatcaattgt agaaaactga ctgaaccata ttgacataca taagacatag
     3721 aagcaacatt tacttataat cacctacctg aagagagctg aactcagcat tcacttgtgt
     3781 tttattccat ttgattatct tgcaaaccat gattccatca tatcaatgta tcttagtgtt
     3841 tttatgactg atgtatctgt gcatctctaa ttgttccttt tgtgtatgtt cccagaagtg
     3901 gaactgctga attaaatgtt ttcaatgctt ttgaaactcc tgctaaattt ttctatgggt
     3961 aaatttttct ccagaaagct tctagcaact taaacctgta ctagtaatat ttgagaataa
     4021 tcatttcact ataactctat cagtagtagg agctcttgtt tatggttatt tgcttctttg
     4081 atgtctcaag ggaagtctta gaaaataatt ctgttctaat aagcacagaa taaaaattga
     4141 agcatatatt gaacaaatga aggctacaca taaggttgat aatttctctt catgctattg
     4201 ctgataattt cttgcatgaa taatgtttgt atttctattt ggaaaaatgt gaccttttgc
     4261 ttattgctgt tatgtaagtt ttcctcatcc taaaattgaa aa
//
LOCUS       NM_001004741             948 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily M member 10
            (OR5M10), mRNA.
ACCESSION   NM_001004741
VERSION     NM_001004741.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 948)
  AUTHORS   Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd
            C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E,
            Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K,
            Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC,
            Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES and
            Sakaki Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
REFERENCE   2  (bases 1 to 948)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000526538.2/ ENSP00000435416.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BK004515.1.
            On Sep 19, 2004 this sequence version replaced XM_372400.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..948
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..948
                     /gene="OR5M10"
                     /gene_synonym="OR11-207"
                     /note="olfactory receptor family 5 subfamily M member 10"
                     /db_xref="GeneID:390167"
                     /db_xref="HGNC:HGNC:15290"
     CDS             1..948
                     /gene="OR5M10"
                     /gene_synonym="OR11-207"
                     /note="olfactory receptor OR11-207"
                     /codon_start=1
                     /product="olfactory receptor 5M10"
                     /protein_id="NP_001004741.1"
                     /db_xref="CCDS:CCDS53630.1"
                     /db_xref="GeneID:390167"
                     /db_xref="HGNC:HGNC:15290"
                     /translation="MLSPNHTIVTEFILLGLTDDPVLEKILFGVFLAIYLITLAGNLCM
                     ILLIRTNSQLQTPMYFFLGHLSFVDICYSSNVTPNMLHNFLSEQKTISYAGCFTQCLLF
                     IALVITEFYFLASMALDRYVAICSPLHYSSRMSKNICISLVTVPYMYGFLNGLSQTLLT
                     FHLSFCGSLEINHFYCADPPLIMLACSDTRVKKMAMFVVAGFTLSSSLFIILLSYLFIF
                     AAIFRIRSAEGRHKAFSTCASHLTIVTLFYGTLFCMYVRPPSEKSVEESKIIAVFYTFL
                     SPMLNPLIYSLRNRDVILAIQQMIRGKSFCKIAV"
     misc_feature    13..15
                     /gene="OR5M10"
                     /gene_synonym="OR11-207"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6IEU7.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR5M10"
                     /gene_synonym="OR11-207"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEU7.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR5M10"
                     /gene_synonym="OR11-207"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEU7.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR5M10"
                     /gene_synonym="OR11-207"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEU7.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR5M10"
                     /gene_synonym="OR11-207"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEU7.1);
                     transmembrane region"
     misc_feature    589..651
                     /gene="OR5M10"
                     /gene_synonym="OR11-207"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEU7.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR5M10"
                     /gene_synonym="OR11-207"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEU7.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR5M10"
                     /gene_synonym="OR11-207"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEU7.1);
                     transmembrane region"
ORIGIN
        1 atgttgtccc caaaccacac catagtgaca gaattcattc tcttaggact gacagacgac
       61 ccagtgctag agaagatcct gtttggggtg ttcctggcga tctacctaat cacactggca
      121 ggcaacctgt gcatgatcct gctgatcagg accaattccc aactgcaaac acccatgtat
      181 ttcttccttg gtcacctctc ctttgtagac atttgctatt cttccaatgt tactccaaat
      241 atgctgcaca atttcctctc agaacagaag accatctcct acgctggatg cttcacacag
      301 tgtcttctct tcatcgccct agtgatcact gagttttact tccttgcttc aatggcattg
      361 gatcgctatg tagccatttg cagcccttta cattacagtt ccaggatgtc caagaacatt
      421 tgcatctctc tggtcactgt gccttacatg tatggcttcc ttaatgggct ctctcagaca
      481 ctgctgacct ttcacttatc cttctgtggc tcccttgaaa tcaatcattt ctactgcgct
      541 gatcctcctc ttatcatgct ggcctgctct gacacccgtg tcaaaaagat ggcaatgttt
      601 gtagttgcag gctttactct ctcaagctct ctcttcatca ttcttctgtc ctatcttttc
      661 atttttgcag cgatcttcag gatccgttct gctgaaggca ggcacaaagc cttttctacg
      721 tgtgcttccc acctgacaat agtcactttg ttttatggaa ccctcttctg catgtacgta
      781 aggcctccat cagagaagtc tgtagaggag tccaaaataa ttgcagtctt ttatactttt
      841 ttgagcccaa tgctgaaccc attgatctat agcctacgga acagagatgt aatccttgcc
      901 atacaacaaa tgattagggg aaaatccttt tgtaaaattg cagtttag
//
LOCUS       NM_001004742            1400 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily M member 3
            (OR5M3), mRNA.
ACCESSION   NM_001004742
VERSION     NM_001004742.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1400)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 1400)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641993.1/ ENSP00000493070.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP002512.4.
            On Aug 7, 2020 this sequence version replaced NM_001004742.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1400
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..1400
                     /gene="OR5M3"
                     /gene_synonym="OR11-191"
                     /note="olfactory receptor family 5 subfamily M member 3"
                     /db_xref="GeneID:219482"
                     /db_xref="HGNC:HGNC:14806"
     misc_feature    159..161
                     /gene="OR5M3"
                     /gene_synonym="OR11-191"
                     /note="upstream in-frame stop codon"
     CDS             177..1100
                     /gene="OR5M3"
                     /gene_synonym="OR11-191"
                     /note="olfactory receptor OR11-191"
                     /codon_start=1
                     /product="olfactory receptor 5M3"
                     /protein_id="NP_001004742.2"
                     /db_xref="CCDS:CCDS31532.1"
                     /db_xref="GeneID:219482"
                     /db_xref="HGNC:HGNC:14806"
                     /translation="MLNFTDVTEFILLGLTSRREWQVLFFIIFLVVYIITMVGNIGMMV
                     LIKVSPQLNNPMYFFLSHLSFVDVWFSSNVTPKMLENLLSDKKTITYAGCLVQCFFFIA
                     LVHVEIFILAAMAFDRYMAIGNPLLYGSKMSRVVCIRLITFPYIYGFLTSLAATLWTYG
                     LYFCGKIEINHFYCADPPLIKMACAGTFVKEYTMIILAGINFTYSLTVIIISYLFILIA
                     ILRMRSAEGRQKAFSTCGSHLTAVIIFYGTLIFMYLRRPTEESVEQGKMVAVFYTTVIP
                     MLNPMIYSLRNKDVKKAMMKVISRSC"
     misc_feature    183..185
                     /gene="OR5M3"
                     /gene_synonym="OR11-191"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGP4.2); glycosylation site"
     misc_feature    246..308
                     /gene="OR5M3"
                     /gene_synonym="OR11-191"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP4.2);
                     transmembrane region"
     misc_feature    333..395
                     /gene="OR5M3"
                     /gene_synonym="OR11-191"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP4.2);
                     transmembrane region"
     misc_feature    468..530
                     /gene="OR5M3"
                     /gene_synonym="OR11-191"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP4.2);
                     transmembrane region"
     misc_feature    588..650
                     /gene="OR5M3"
                     /gene_synonym="OR11-191"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP4.2);
                     transmembrane region"
     misc_feature    759..821
                     /gene="OR5M3"
                     /gene_synonym="OR11-191"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP4.2);
                     transmembrane region"
     misc_feature    882..944
                     /gene="OR5M3"
                     /gene_synonym="OR11-191"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP4.2);
                     transmembrane region"
     misc_feature    984..1046
                     /gene="OR5M3"
                     /gene_synonym="OR11-191"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP4.2);
                     transmembrane region"
ORIGIN
        1 gttaagggag gcttccactg tggacttttc caagtttccc tttcatcagg ttgaaagtgt
       61 ttaccattcc catatatagc atgcgctttt caactctgca accacattgg gaatatttct
      121 catcattctc agttatcaaa aagttttgta actgatattg acttagaatt cagaaaatgc
      181 tcaatttcac cgatgtgaca gagttcattc ttttggggct aacgagccgt cgagaatggc
      241 aagttctctt cttcatcatc tttcttgtgg tctacatcat caccatggtg ggcaatatcg
      301 gcatgatggt gttaatcaag gtcagtcctc agcttaacaa ccccatgtac tttttcctca
      361 gtcacttgtc atttgttgat gtgtggtttt cttccaatgt cacccctaaa atgttggaaa
      421 acctgttatc agataaaaaa acaattactt atgctggttg tttagtacag tgtttcttct
      481 tcattgctct tgtccatgtg gaaattttta ttcttgctgc gatggccttt gatagataca
      541 tggcaattgg gaatcctctg ctttatggca gtaaaatgtc aagggttgtc tgtattcgac
      601 tgattacttt cccttacatt tatggttttc tgacgagtct ggcagcaaca ttatggactt
      661 acggcttgta cttctgtgga aaaattgaga tcaaccattt ctactgtgca gatccacctc
      721 tcatcaaaat ggcctgtgct gggacctttg taaaagaata tacaatgatc atacttgccg
      781 gcattaactt cacatattcc ctgactgtaa ttatcatctc ttacttattc atcctcattg
      841 ccattctgcg aatgcgctca gcagaaggaa ggcagaaggc cttttccaca tgtgggtccc
      901 atctgacagc tgtcattata ttctatggta ctctgatctt catgtatctc agacgtccca
      961 cagaggagtc tgtggagcag gggaagatgg tggctgtgtt ctataccaca gtgatcccca
     1021 tgttgaatcc catgatctac agtctgagga acaaggatgt gaaaaaggcc atgatgaaag
     1081 tgatcagcag atcatgttaa acaaaataaa atcaaatttg atttaatttt atcttctatt
     1141 atttgtttgg aaaaagttta ttacccagta cctaggaaca ttaagataaa gatattctgt
     1201 gggttgaaaa gaaaaataaa agtggtacaa attgagaaaa tataaggagg aatgattcat
     1261 ttctgttgat gtgagtatgg agattaatta catacaaata agttaattga aactgtgatg
     1321 tgtgccaaag ttcataggtg tactaaggga aattgctcaa atagctgcaa ccaaaagacg
     1381 ttttcttatt gaaaagtgca
//
LOCUS       NM_001004743             933 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily M member 9
            (OR5M9), mRNA.
ACCESSION   NM_001004743
VERSION     NM_001004743.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 933)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 933)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000279791.1/ ENSP00000279791.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AP002512.4.
            On Sep 19, 2004 this sequence version replaced XM_372397.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..933
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..933
                     /gene="OR5M9"
                     /gene_synonym="OR11-190"
                     /note="olfactory receptor family 5 subfamily M member 9"
                     /db_xref="GeneID:390162"
                     /db_xref="HGNC:HGNC:15294"
     CDS             1..933
                     /gene="OR5M9"
                     /gene_synonym="OR11-190"
                     /note="olfactory receptor OR11-190"
                     /codon_start=1
                     /product="olfactory receptor 5M9"
                     /protein_id="NP_001004743.1"
                     /db_xref="CCDS:CCDS31531.1"
                     /db_xref="GeneID:390162"
                     /db_xref="HGNC:HGNC:15294"
                     /translation="MPNFTDVTEFTLLGLTCRQELQVLFFVVFLAVYMITLLGNIGMII
                     LISISPQLQSPMYFFLSHLSFADVCFSSNVTPKMLENLLSETKTISYVGCLVQCYFFIA
                     VVHVEVYILAVMAFDRYMAGCNPLLYGSKMSRTVCVRLISVPYVYGFSVSLICTLWTYG
                     LYFCGNFEINHFYCADPPLIQIACGRVHIKEITMIVIAGINFTYSLSVVLISYTLIVVA
                     VLRMRSADGRRKAFSTCGSHLTAVSMFYGTPIFMYLRRPTEESVEQGKMVAVFYTTVIP
                     MLNPMIYSLRNKDVKEAVNKAITKTYVRQ"
     misc_feature    7..9
                     /gene="OR5M9"
                     /gene_synonym="OR11-190"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGP3.1); glycosylation site"
     misc_feature    70..132
                     /gene="OR5M9"
                     /gene_synonym="OR11-190"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP3.1);
                     transmembrane region"
     misc_feature    157..219
                     /gene="OR5M9"
                     /gene_synonym="OR11-190"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP3.1);
                     transmembrane region"
     misc_feature    292..354
                     /gene="OR5M9"
                     /gene_synonym="OR11-190"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP3.1);
                     transmembrane region"
     misc_feature    412..474
                     /gene="OR5M9"
                     /gene_synonym="OR11-190"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP3.1);
                     transmembrane region"
     misc_feature    583..645
                     /gene="OR5M9"
                     /gene_synonym="OR11-190"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP3.1);
                     transmembrane region"
     misc_feature    706..768
                     /gene="OR5M9"
                     /gene_synonym="OR11-190"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP3.1);
                     transmembrane region"
     misc_feature    808..870
                     /gene="OR5M9"
                     /gene_synonym="OR11-190"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP3.1);
                     transmembrane region"
ORIGIN
        1 atgcctaatt tcacggatgt gacagaattt actctcctgg ggctgacctg tcgtcaggag
       61 ctacaggttc tcttttttgt ggtgttccta gcggtttaca tgatcactct gttgggaaat
      121 attggtatga tcattttgat tagcatcagt cctcagcttc agagtcccat gtactttttc
      181 ctgagtcatc tgtcttttgc ggacgtgtgc ttctcctcca acgttacccc caaaatgctg
      241 gaaaacttat tatcagagac aaaaaccatt tcctatgtgg gatgcttggt gcagtgctac
      301 tttttcattg ccgttgtcca cgtggaggtc tatatcctgg ctgtgatggc ctttgacagg
      361 tacatggccg gctgcaaccc tctgctttat ggcagtaaaa tgtctaggac tgtgtgtgtt
      421 cggctcatct ctgtgcctta tgtctatgga ttctctgtca gcctaatatg cacactatgg
      481 acttatggct tatacttctg tggaaacttt gaaatcaatc acttctattg tgcagatccc
      541 cctctcatcc agattgcctg tgggagagtg cacatcaaag aaatcacaat gattgttatt
      601 gctggaatta acttcacata ttccctctcg gtggtcctca tctcctacac tctcattgta
      661 gtagctgtgc tacgcatgcg ctctgccgat ggcaggagga aggcgttctc cacctgtggg
      721 tcccacttga cggctgtttc tatgttttat gggaccccca tcttcatgta tctcaggaga
      781 cccactgagg aatccgtaga gcagggcaaa atggtggctg tgttttacac cacagtaatt
      841 cctatgttga atcccatgat ctacagtctg agaaataagg atgtaaaaga agcagtcaac
      901 aaagcaatca ccaagacata tgtgaggcag taa
//
LOCUS       NM_001004744             975 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily U member 3
            (OR8U3), mRNA.
ACCESSION   NM_001004744
VERSION     NM_001004744.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 975)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 975)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 975)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000623286.1/ ENSP00000485324.1
            polymorphic pseudogene :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AP002512.4.
            On Sep 19, 2004 this sequence version replaced XM_166831.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be non-functional as an olfactory receptor
            according to the Classifier for Olfactory Receptor Pseudogenes.
FEATURES             Location/Qualifiers
     source          1..975
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..975
                     /gene="OR8U3"
                     /gene_synonym="OR11-185; OR5R1; OR5R1P"
                     /note="olfactory receptor family 8 subfamily U member 3"
                     /db_xref="GeneID:219479"
                     /db_xref="HGNC:HGNC:14841"
     CDS             1..975
                     /gene="OR8U3"
                     /gene_synonym="OR11-185; OR5R1; OR5R1P"
                     /note="olfactory receptor, family 5, subfamily R, member 1
                     pseudogene; olfactory receptor 5R1; olfactory receptor
                     OR11-185; olfactory receptor family 5 subfamily R member 1"
                     /codon_start=1
                     /product="olfactory receptor 8U3"
                     /protein_id="NP_001004744.1"
                     /db_xref="GeneID:219479"
                     /db_xref="HGNC:HGNC:14841"
                     /translation="MAEVNIIYVTVFILKGITNRPELQAPCFGVFLVIYLVTVLGNLGL
                     ITLIKIDTRLHTPMYYFLSHLAFVDLCYSSAITPKMMVNFVVERNTIPFHACATQLGCF
                     LTFMITECFLLASMAYDCYVAICSPLHYSTLMSRRVCIQLVAVPYIYSFLVALFHTVIT
                     FRLTYCGPNLINHFYCDDLPFLALSCSDTHMKEILIFAFAGFDMISSSSIVLTSYIFII
                     AAILRIRSTQGQHKAISTCGSHMVTVTIFYGTLIFMYLQPKSNHSLDTDKMASVFYTVV
                     IPMLNPLIYSLRNKEVKDASKKALDKGCENLQILTFLKIRKLY"
     misc_feature    76..138
                     /gene="OR8U3"
                     /gene_synonym="OR11-185; OR5R1; OR5R1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH85.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR8U3"
                     /gene_synonym="OR11-185; OR5R1; OR5R1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH85.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR8U3"
                     /gene_synonym="OR11-185; OR5R1; OR5R1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH85.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR8U3"
                     /gene_synonym="OR11-185; OR5R1; OR5R1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH85.1);
                     transmembrane region"
     misc_feature    589..651
                     /gene="OR8U3"
                     /gene_synonym="OR11-185; OR5R1; OR5R1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH85.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR8U3"
                     /gene_synonym="OR11-185; OR5R1; OR5R1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH85.1);
                     transmembrane region"
     misc_feature    793..795
                     /gene="OR8U3"
                     /gene_synonym="OR11-185; OR5R1; OR5R1P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH85.1); glycosylation site"
     misc_feature    814..876
                     /gene="OR8U3"
                     /gene_synonym="OR11-185; OR5R1; OR5R1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH85.1);
                     transmembrane region"
ORIGIN
        1 atggctgaag ttaatatcat ttatgtcact gtattcattc tgaaaggaat taccaaccgg
       61 ccagagcttc aggccccgtg ctttggggtg tttttagtta tctatctggt cacagtgctg
      121 ggcaatcttg ggttgattac tttaatcaag attgatactc gactccacac acctatgtac
      181 tatttcctca gccacctggc ctttgttgac ctttgttact cctctgctat tacaccgaag
      241 atgatggtga attttgttgt ggaacgcaac accattcctt tccatgcttg tgcaacccaa
      301 ctgggttgtt ttctcacctt catgatcact gagtgtttcc ttctagcctc catggcctac
      361 gattgctatg tcgccatctg tagtcccctg cattattcaa cactgatgtc aagaagagtc
      421 tgcattcaac tggtggcagt tccatatata tacagcttcc tggttgccct cttccacacc
      481 gttatcactt tccgtctgac ttactgtggc ccaaacttaa ttaaccattt ctattgtgat
      541 gacctcccct tcttagctct gtcctgctca gacacacaca tgaaggaaat tctgatattt
      601 gcctttgctg gctttgatat gatctcttcc tcttccattg tcctcacctc ctacatcttt
      661 attattgccg ctatcctaag gatccgctct actcaggggc aacacaaagc catttccacc
      721 tgtggctccc atatggtgac tgtcactatt ttctatggca cactgatctt tatgtaccta
      781 cagcccaaat caaatcactc cttggacaca gacaagatgg cttctgtatt ttacacagtg
      841 gtgatcccca tgttaaaccc cctaatctat agtctaagga acaaagaagt gaaagatgcc
      901 tcaaagaaag ccttggataa aggttgtgaa aacttacaga tattaacatt tttaaaaata
      961 agaaaacttt attaa
//
LOCUS       NM_001004745            1471 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily T member 1
            (OR5T1), mRNA.
ACCESSION   NM_001004745
VERSION     NM_001004745.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1471)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641665.1/ ENSP00000493364.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022882.5.
            On Jul 24, 2020 this sequence version replaced NM_001004745.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1471
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..1471
                     /gene="OR5T1"
                     /gene_synonym="OR11-179; OR5T1P"
                     /note="olfactory receptor family 5 subfamily T member 1"
                     /db_xref="GeneID:390155"
                     /db_xref="HGNC:HGNC:14821"
     misc_feature    276..278
                     /gene="OR5T1"
                     /gene_synonym="OR11-179; OR5T1P"
                     /note="upstream in-frame stop codon"
     CDS             291..1271
                     /gene="OR5T1"
                     /gene_synonym="OR11-179; OR5T1P"
                     /note="olfactory receptor, family 5, subfamily T, member 1
                     pseudogene; olfactory receptor OR11-179"
                     /codon_start=1
                     /product="olfactory receptor 5T1"
                     /protein_id="NP_001004745.1"
                     /db_xref="CCDS:CCDS31525.1"
                     /db_xref="GeneID:390155"
                     /db_xref="HGNC:HGNC:14821"
                     /translation="MSGLPSDMDLYKLQLNNFTEVTMFILISFTEEFDVQVFLFLLFLA
                     IYLFTLIGNLGLVVPIIGDFWLHSPMYYFLGVLSFLDVCYSTVVTPKMLVNFLAKNKSI
                     SFLGCATQMFLACTFGTTECFLLAAMAYDRYVAIYNPLLYSVSMSPRVYVPLITASYVA
                     SILHATIHTVATFSLSFCGSNEIRHVFCNMPPLLAISCSDTHVIQLLFFYFVGSIEIVT
                     ILIVLISYGFILLAILKMQSAEGRRKVFSTCGAHLTGVTIYHGTILFMYVRPSSSYTSD
                     NDMIVSIFYTIVIPMLNPIIYSLRNKDVKEAIKRLLVRNWFINKL"
     misc_feature    339..341
                     /gene="OR5T1"
                     /gene_synonym="OR11-179; OR5T1P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NG75.1); glycosylation site"
     misc_feature    402..464
                     /gene="OR5T1"
                     /gene_synonym="OR11-179; OR5T1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG75.1);
                     transmembrane region"
     misc_feature    489..551
                     /gene="OR5T1"
                     /gene_synonym="OR11-179; OR5T1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG75.1);
                     transmembrane region"
     misc_feature    591..593
                     /gene="OR5T1"
                     /gene_synonym="OR11-179; OR5T1P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NG75.1); glycosylation site"
     misc_feature    624..686
                     /gene="OR5T1"
                     /gene_synonym="OR11-179; OR5T1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG75.1);
                     transmembrane region"
     misc_feature    744..806
                     /gene="OR5T1"
                     /gene_synonym="OR11-179; OR5T1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG75.1);
                     transmembrane region"
     misc_feature    915..977
                     /gene="OR5T1"
                     /gene_synonym="OR11-179; OR5T1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG75.1);
                     transmembrane region"
     misc_feature    1038..1100
                     /gene="OR5T1"
                     /gene_synonym="OR11-179; OR5T1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG75.1);
                     transmembrane region"
     misc_feature    1140..1202
                     /gene="OR5T1"
                     /gene_synonym="OR11-179; OR5T1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG75.1);
                     transmembrane region"
ORIGIN
        1 gagcagttca tttccaaagg aaagaaaagt gaaacacaaa aggaaaaata aatgaaaaat
       61 gaacaccaaa ttcttttggt ttgcaaacaa ggtgcatcta tctccagaat caaatctctt
      121 gtatccacca ccattcttaa tgtatccact tggacccaat tttatcacca cctgtgcatt
      181 tgctgacaag gatttcatct tgcttttcca agaaacgaac atgaggatat aattggataa
      241 acttaatttt cacaggctgt tgcatttagt acatataaac aatagctaaa atgtcagggt
      301 tgccttcaga tatggatcta tacaagcttc aattaaacaa ttttactgaa gtcaccatgt
      361 ttatattaat aagcttcaca gaagaatttg atgtgcaagt cttcctattt ttattatttt
      421 tagcaatcta tctattcact ctaataggca atttagggct ggttgtaccg atcattgggg
      481 atttctggct tcacagccca atgtactatt ttcttggtgt tttatcattc ttggatgtct
      541 gctattctac agttgtcact ccaaaaatgt tggtcaattt cctggcaaaa aataaatcta
      601 tttcatttct tggatgtgca acacagatgt ttcttgcttg tacttttgga accacagaat
      661 gctttctctt ggctgcaatg gcttatgatc gctatgtagc catctacaac cctctcctgt
      721 attcagtgag catgtcaccc agagtctatg tgccactcat cactgcttcc tatgttgcta
      781 gcattttaca tgctactata catacagtgg ctacatttag cctgtccttc tgtggatcca
      841 atgaaattag gcatgtcttt tgtaatatgc ctcctctgct tgctatttct tgttctgaca
      901 ctcacgtaat ccagcttcta ttcttctact ttgtgggctc tattgagata gtcactatcc
      961 tgattgtcct gatctcctat ggttttattc tgttggccat tctgaagatg cagtctgctg
     1021 aagggaggag aaaagtcttc tctacatgtg gagctcacct aactggagtg acaatttatc
     1081 atgggacaat cctcttcatg tatgtgagac caagttccag ctacacttcg gacaatgaca
     1141 tgatagtgtc aatattttat accattgtga ttcccatgct gaatcccatc atctacagtt
     1201 tgcggaacaa agatgtaaag gaggcaatca aaagattgct tgtgagaaat tggttcataa
     1261 ataagttata gttttaaaat tgagtaaagt tgcaaataat attgggtgtc agtccacatc
     1321 tctatggtca gaaagtagag aagaaaatgt gtttctttta gttaacagtg cttgtaactt
     1381 ctagaatatt ttcaaataaa gcatcaatca gcctactaat tcaccatttt agaaatatca
     1441 atatattgta tcatgtataa aatatggctt g
//
LOCUS       NM_001004746            2062 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily T member 2
            (OR5T2), mRNA.
ACCESSION   NM_001004746
VERSION     NM_001004746.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2062)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (bases 1 to 2062)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000641661.1/ ENSP00000493233.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022882.5.
            On Nov 19, 2020 this sequence version replaced NM_001004746.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..2062
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..2062
                     /gene="OR5T2"
                     /gene_synonym="OR11-177"
                     /note="olfactory receptor family 5 subfamily T member 2"
                     /db_xref="GeneID:219464"
                     /db_xref="HGNC:HGNC:15296"
     misc_feature    123..125
                     /gene="OR5T2"
                     /gene_synonym="OR11-177"
                     /note="upstream in-frame stop codon"
     misc_feature    159..161
                     /gene="OR5T2"
                     /gene_synonym="OR11-177"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MSYSIYKSTVNIPLSHGVVHSFCHNMNCNFMHIFKFVLDFN"
     misc_feature    234..236
                     /gene="OR5T2"
                     /gene_synonym="OR11-177"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MNCNFMHIFKFVLDFN"
     misc_feature    249..251
                     /gene="OR5T2"
                     /gene_synonym="OR11-177"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MHIFKFVLDFN"
     CDS             282..1238
                     /gene="OR5T2"
                     /gene_synonym="OR11-177"
                     /note="olfactory receptor OR11-177"
                     /codon_start=1
                     /product="olfactory receptor 5T2"
                     /protein_id="NP_001004746.2"
                     /db_xref="CCDS:CCDS31523.2"
                     /db_xref="GeneID:219464"
                     /db_xref="HGNC:HGNC:15296"
                     /translation="MKNVTEVTLFVLKGFTDNLELQTIFFFLFLAIYLFTLMGNLGLIL
                     VVIRDSQLHKPMYYFLSMLSSVDACYSSVITPNMLVDFTTKNKVISFLGCVAQVFLACS
                     FGTTECFLLAAMAYDRYVAIYNPLLYSVSMSPRVYMPLINASYVAGILHATIHTVATFS
                     LSFCGANEIRRVFCDIPPLLAISYSDTHTNQLLLFYFVGSIELVTILIVLISYGLILLA
                     ILKMYSAEGRRKVFSTCGAHLTGVSIYYGTILFMYVRPSSSYASDHDMIVSIFYTIVIP
                     LLNPVIYSLRNKDVKDSMKKMFGKNQVINKVYFHTKK"
ORIGIN
        1 gtacaatgag agaaacctgg gattgaatct tggctctgga aattgttagc tatgaaagtt
       61 gctataaagg tgaaataagt gagtggcatg aacacatggc tgaccagttt gtcactgtct
      121 tctgattcac tactagagaa ttatgcactg ctgaatatat gtcgtacagt atatacaaga
      181 gcacagttaa catccccttg agtcatggtg ttgttcattc tttttgtcat aatatgaact
      241 gtaactttat gcatatcttc aagtttgttc tagatttcaa catgaagaat gtcactgaag
      301 ttaccttatt tgtactgaag ggcttcacag acaatcttga actgcagact atcttcttct
      361 tcctgtttct agcaatctac ctcttcactc tcatgggaaa tttaggactg attttagtgg
      421 tcattaggga ttcccagctc cacaaaccca tgtactattt tctgagtatg ttgtcttctg
      481 tggatgcctg ctattcctca gttattaccc caaatatgtt agtagatttt acgacaaaga
      541 ataaagtcat ttcattcctt ggatgtgtag cacaggtgtt tcttgcttgt agttttggaa
      601 ccacagaatg ctttctcttg gctgcaatgg cttatgatcg ctatgtagcc atctacaacc
      661 ctctcctgta ttcagtgagc atgtcaccca gagtctacat gccactcatc aatgcttcct
      721 atgttgctgg cattttacat gctactatac atacagtggc tacatttagc ctatccttct
      781 gtggagccaa tgaaattagg cgtgtctttt gtgatatccc tcctctcctt gctatttctt
      841 attctgacac tcacacaaac cagcttctac tcttctactt tgtgggctct atcgagctgg
      901 tcactatcct gattgttctg atctcctatg gtttgattct gttggccatt ctgaagatgt
      961 attctgctga agggaggaga aaagtcttct ccacatgtgg agctcaccta actggagtgt
     1021 caatttatta tgggacaatc ctcttcatgt atgtgagacc aagttccagc tatgcttcgg
     1081 accatgacat gatagtgtca atattttaca ccattgtgat tcccttgctg aatcccgtca
     1141 tctacagttt gaggaacaaa gatgtaaaag actcaatgaa aaaaatgttt gggaaaaatc
     1201 aggttatcaa taaagtatat tttcatacta aaaaataaat tataaaaggt gagggtgata
     1261 ctctgcacct caataccaag aatgtgtcat tgtggtgtta tgatatatgt tggtttccat
     1321 ccagggttcc tggctcataa ttcccatagc ctttgttaca gtcttttgtt ataatgttgg
     1381 gtgttatacc tcaggggcag gccttttacc ttctcctgcc ctcctttcac ttgcaccaag
     1441 gctgggttcc aatgtctgcc ttactgattg tgaatcttaa gactctccca tgagagagtc
     1501 ccaccctata ccttcgggga gggaatgctg atgccttgaa gcttccatag aacctaggag
     1561 gatagggttc agtgagcttc tggggagcag aacaaatgga agttcctaga gggtggcatg
     1621 gtcagggagg gcatggaaac tctgcacccc tttccttata ctttgcccta cacatccctt
     1681 caccagtgtc ctttgcaata tccttttcaa taagccagta atatgtttcc ctgagttttg
     1741 tgagctgctt cagtaattta atgaaaccca aagagggggt catgggagat ccaacttgaa
     1801 gcaggttggt caaagtttca gagacccgaa tttgtgactg gtgttgtcag ggggcagttt
     1861 tggggactga accctcaacc tatgggatct gacactatct ctgggtagat agtgttgcaa
     1921 ctgaattaga ggatacccag ttggtgatta ccacgtggtg tgggaggaag aaatccctac
     1981 ccatttgatc acagaagtct tctgtgttga tgattgttgt ggtatgacag tagaggaaaa
     2041 acctggttag caagagtttt cc
//
LOCUS       NM_001004747             969 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily T member 3
            (OR5T3), mRNA.
ACCESSION   NM_001004747
VERSION     NM_001004747.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 969)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   2  (bases 1 to 969)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313033.4/ ENSP00000323612.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022882.5.
            On Nov 19, 2020 this sequence version replaced NM_001004747.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..969
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..969
                     /gene="OR5T3"
                     /gene_synonym="OR11-178; OR5T3Q"
                     /note="olfactory receptor family 5 subfamily T member 3"
                     /db_xref="GeneID:390154"
                     /db_xref="HGNC:HGNC:15297"
     CDS             1..969
                     /gene="OR5T3"
                     /gene_synonym="OR11-178; OR5T3Q"
                     /note="olfactory receptor OR11-178"
                     /codon_start=1
                     /product="olfactory receptor 5T3"
                     /protein_id="NP_001004747.2"
                     /db_xref="CCDS:CCDS31524.2"
                     /db_xref="GeneID:390154"
                     /db_xref="HGNC:HGNC:15297"
                     /translation="MDKLSSGLDIYRNPLKNKTEVTMFILTGFTDDFELQVFLFLLFFA
                     IYLFTLIGNLGLVVLVIEDSWLHNPMYYFLSVLSFLDACYSTVVTPKMLVNFLAKNKSI
                     SFIGCATQMLLFVTFGTTECFLLAAMAYDHYVAIYNPLLYSVSMSPRVYVPLITASYVA
                     GILHATIHIVATFSLSFCGSNEIRHVFCDMPPLLAISCSDTHTNQLLLFYFVGSIEIVT
                     ILIVLISCDFILLSILKMHSAKGRQKAFSTCGSHLTGVTIYHGTILVSYMRPSSSYASD
                     HDIIVSIFYTIVIPKLNPIIYSLRNKEVKKAVKKMLKLVYK"
ORIGIN
        1 atggacaagt tgtcatcagg tttggatata tacaggaatc cactgaagaa caagactgaa
       61 gtcaccatgt ttatattgac aggcttcaca gatgattttg agctgcaagt cttcctattt
      121 ttactatttt ttgcaatcta tctctttacc ttgataggca atttagggct ggttgtgttg
      181 gtcattgagg attcctggct ccacaacccc atgtattatt ttcttagtgt tttatcattc
      241 ttggatgctt gctattctac agttgtcact ccaaaaatgt tggtcaattt cctggcaaaa
      301 aataaatcca tttcatttat cggatgtgca acacagatgc ttctttttgt tacttttgga
      361 actacagaat gttttctctt ggctgcaatg gcttatgatc actatgtagc catctacaac
      421 cctctcctgt attcagtgag catgtcaccc agagtctatg tgccactcat cactgcttcc
      481 tacgttgctg gcattttaca tgctactata catatagtgg ctacatttag cctgtccttc
      541 tgtggatcca atgaaattag gcatgtcttt tgtgatatgc ctcctctcct tgctatttct
      601 tgttctgaca ctcacacaaa ccagcttcta ctcttctact ttgtgggttc tattgagata
      661 gtcactatcc tgattgtcct catttcctgt gatttcattc tgttgtccat tctgaagatg
      721 cattctgcta agggaaggca aaaggccttc tctacatgtg gctctcacct aactggagtg
      781 acaatttatc atggaacaat tctcgtcagt tatatgagac caagttccag ctatgcttca
      841 gaccatgaca tcatagtgtc aatattttac acaattgtga ttcccaagtt gaatcccatc
      901 atctatagtt tgaggaacaa agaagtaaaa aaggcagtga agaaaatgtt gaaattggtt
      961 tacaaatga
//
LOCUS       NM_001004748             942 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily A member 2
            (OR51A2), mRNA.
ACCESSION   NM_001004748
VERSION     NM_001004748.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 942)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380371.1/ ENSP00000369729.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC018375.8.
            On Sep 19, 2004 this sequence version replaced XM_377159.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..942
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..942
                     /gene="OR51A2"
                     /note="olfactory receptor family 51 subfamily A member 2"
                     /db_xref="GeneID:401667"
                     /db_xref="HGNC:HGNC:14764"
     CDS             1..942
                     /gene="OR51A2"
                     /codon_start=1
                     /product="olfactory receptor 51A2"
                     /protein_id="NP_001004748.1"
                     /db_xref="CCDS:CCDS31368.1"
                     /db_xref="GeneID:401667"
                     /db_xref="HGNC:HGNC:14764"
                     /translation="MSIINTSYVEITTFFLVGMPGLEYAHIWISIPICSMYLIAILGNG
                     TILFIIKTEPSLHGPMYYFLSMLAMSDLGLSLSSLPTVLSIFLFNAPETSSSACFAQEF
                     FIHGFSVLESSVLLIMSFDRFLAIHNPLRYTSILTTVRVAQIGIVFSFKSMLLVLPFPF
                     TLRSLRYCKKNQLSHSYCLHQDVMKLACSDNRIDVIYGFFGALCLMVDFILIAVSYTLI
                     LKTVPGIASKKEELKALNTCVSHICAVIIFYLPIINLAVVHRFAGHVSPLINVLMANVL
                     LLVPPLMKPIVYCVKTKQIRVRVVAKLCQWKI"
     misc_feature    13..15
                     /gene="OR51A2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGJ7.1); glycosylation site"
     misc_feature    82..144
                     /gene="OR51A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ7.1);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR51A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ7.1);
                     transmembrane region"
     misc_feature    304..366
                     /gene="OR51A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ7.1);
                     transmembrane region"
     misc_feature    424..486
                     /gene="OR51A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ7.1);
                     transmembrane region"
     misc_feature    595..654
                     /gene="OR51A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ7.1);
                     transmembrane region"
     misc_feature    715..777
                     /gene="OR51A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ7.1);
                     transmembrane region"
     misc_feature    823..885
                     /gene="OR51A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ7.1);
                     transmembrane region"
ORIGIN
        1 atgtccatta tcaacacatc atatgttgaa atcaccacct tcttcttggt tgggatgcca
       61 gggctagaat atgcacacat ctggatctct atccccatct gcagcatgta tcttattgct
      121 attctaggaa atggcaccat tctttttatc atcaagacag agccctcctt gcatgggccc
      181 atgtactatt ttctttccat gttggctatg tcagacttgg gtttgtcttt atcatctctg
      241 cccactgtgt taagcatctt cctgttcaat gcccctgaaa cttcttctag tgcctgcttt
      301 gcccaggaat tcttcattca tggattctca gtactggagt cctcagtcct cctgatcatg
      361 tcatttgata gattcctagc catccacaat cctctgagat acacctcaat cctgacaact
      421 gtcagagttg cccaaatagg gatagtattc tcctttaaga gcatgctcct ggttcttccc
      481 ttccctttca ctttaagaag cttgagatat tgcaagaaaa accaattatc ccattcctac
      541 tgtctccacc aggatgtcat gaagttggcc tgttctgaca acagaattga tgttatctat
      601 ggcttttttg gagcactctg ccttatggta gactttattc tcattgctgt gtcttacacc
      661 ctgatcctca agactgtacc gggaattgca tccaaaaagg aggagcttaa ggctctcaat
      721 acttgtgttt cacacatctg tgcagtgatc atcttctacc tgcccatcat caacctggcc
      781 gttgtccacc gctttgccgg gcatgtctct cccctcatta atgttctcat ggcaaatgtt
      841 ctcctacttg tacctccgct gatgaaacca attgtttatt gtgtaaaaac taaacagatt
      901 agagtgagag ttgtagcaaa attgtgtcaa tggaagattt aa
//
LOCUS       NM_001004749            2186 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily A member 7
            (OR51A7), mRNA.
ACCESSION   NM_001004749
VERSION     NM_001004749.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2186)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641490.1/ ENSP00000493162.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018375.8.
            On Aug 5, 2020 this sequence version replaced NM_001004749.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..2186
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..2186
                     /gene="OR51A7"
                     /gene_synonym="OR11-27"
                     /note="olfactory receptor family 51 subfamily A member 7"
                     /db_xref="GeneID:119687"
                     /db_xref="HGNC:HGNC:15188"
     misc_feature    70..72
                     /gene="OR51A7"
                     /gene_synonym="OR11-27"
                     /note="upstream in-frame stop codon"
     CDS             94..1032
                     /gene="OR51A7"
                     /gene_synonym="OR11-27"
                     /note="olfactory receptor OR11-27"
                     /codon_start=1
                     /product="olfactory receptor 51A7"
                     /protein_id="NP_001004749.1"
                     /db_xref="CCDS:CCDS31364.1"
                     /db_xref="GeneID:119687"
                     /db_xref="HGNC:HGNC:15188"
                     /translation="MSVLNNSEVKLFLLIGIPGLEHAHIWFSIPICLMYLLAIMGNCTI
                     LFIIKTEPSLHEPMYYFLAMLAVSDMGLSLSSLPTMLRVFLFNAMGISPNACFAQEFFI
                     HGFTVMESSVLLIMSLDRFLAIHNPLRYSSILTSNRVAKMGLILAIRSILLVIPFPFTL
                     RRLKYCQKNLLSHSYCLHQDTMKLACSDNKTNVIYGFFIALCTMLDLALIVLSYVLILK
                     TILSIASLAERLKALNTCVSHICAVLTFYVPIITLAAMHHFAKHKSPLVVILIADMFLL
                     VPPLMNPIVYCVKTRQIWEKILGKLLNVCGR"
     misc_feature    106..108
                     /gene="OR51A7"
                     /gene_synonym="OR11-27"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH64.1); glycosylation site"
     misc_feature    169..231
                     /gene="OR51A7"
                     /gene_synonym="OR11-27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH64.1);
                     transmembrane region"
     misc_feature    256..318
                     /gene="OR51A7"
                     /gene_synonym="OR11-27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH64.1);
                     transmembrane region"
     misc_feature    391..453
                     /gene="OR51A7"
                     /gene_synonym="OR11-27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH64.1);
                     transmembrane region"
     misc_feature    511..573
                     /gene="OR51A7"
                     /gene_synonym="OR11-27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH64.1);
                     transmembrane region"
     misc_feature    667..669
                     /gene="OR51A7"
                     /gene_synonym="OR11-27"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH64.1); glycosylation site"
     misc_feature    682..741
                     /gene="OR51A7"
                     /gene_synonym="OR11-27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH64.1);
                     transmembrane region"
     misc_feature    802..864
                     /gene="OR51A7"
                     /gene_synonym="OR11-27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH64.1);
                     transmembrane region"
     misc_feature    910..972
                     /gene="OR51A7"
                     /gene_synonym="OR11-27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH64.1);
                     transmembrane region"
ORIGIN
        1 ctgagcatct ggttctggta aggttaagga gctataaatc cttttggaaa cctaaatcta
       61 agatccggct aacgagctca tatctccctc attatgtctg ttctcaataa ctccgaagtc
      121 aagcttttcc ttctgattgg gatcccagga ctggaacatg cccacatttg gttctccatc
      181 cccatttgcc tcatgtacct gcttgccatc atgggcaact gcaccattct ctttattata
      241 aagacagagc cctcgcttca tgagcccatg tattatttcc ttgccatgtt ggctgtctct
      301 gacatgggcc tgtccctctc ctcccttcct accatgttga gggtcttctt gttcaatgcc
      361 atgggaattt cacctaatgc ctgctttgct caagaattct tcattcatgg attcactgtc
      421 atggaatcct cagtacttct aattatgtct ttggaccgct ttcttgccat tcacaatccc
      481 ttaagataca gttctatcct cactagcaac agggttgcta aaatgggact tattttagcc
      541 attaggagca ttctcttagt gattccattt cccttcacct taaggagatt aaaatattgt
      601 caaaagaatc ttctttctca ctcatactgt cttcatcagg ataccatgaa gctggcctgc
      661 tctgacaaca agaccaatgt catctatggc ttcttcattg ctctctgtac tatgctggac
      721 ttggcactga ttgttttgtc ttatgtgctg atcttgaaga ctatactcag cattgcatct
      781 ttggcagaga ggcttaaggc cctaaatacc tgtgtctccc acatctgtgc tgtgctcacc
      841 ttctatgtgc ccatcatcac cctggctgcc atgcatcact ttgccaagca caaaagccct
      901 cttgttgtga tccttattgc agatatgttc ttgttggtgc cgccccttat gaaccccatt
      961 gtgtactgtg taaagactcg acaaatctgg gagaagatct tggggaagtt gcttaatgta
     1021 tgtgggagat aagaacttga acaattaggt aataaattat caaccagtag gcatttactg
     1081 tcatttgcta tgtgcttaat gccatagaag tcactaatga aggactggat gatggaagtg
     1141 aaaagctatg tagtgcagaa tttataataa agttgagaat ataactgaac aggatagaaa
     1201 aaaaagtcaa gagatatata agatatagag gtttaattaa cattttaagg gaagttgaag
     1261 gaaaatactt ctgtgatgga gcagctggat ttgagtcaac ccataaagaa tgaatacaat
     1321 ttgggcagat tgagattacc attcagttag tatctattaa aaatacagat gatatacaaa
     1381 gtctaatctc atactgtcaa ggaaaggtaa aatagctatg aaggatgctg atctgattac
     1441 aatagaaagt gaaatttaac agatagcaag tgatattttg gataaaataa gtgaaccaga
     1501 ttttggagca cctaaaaaaa gctttgaaaa gtctaaattc aggaggtgtt ggaatgccaa
     1561 tttcttctct acatgataaa tttcatttta agaagagcgt gcctgtaaac atggattgaa
     1621 tttgggagag atgaggaagg aagattaaca ggagaaagca caataatcct gctgtgaagt
     1681 gatgactcag aataggcagg gagagaacaa gatcatttag ctgctgttgt tatttttctg
     1741 ttataaaacc aacatgtaaa ttatggaaaa ttcacaaatt taactaagtg actaaaagat
     1801 aattttaaac cccctatggt tttgctgttt agtttttttc tgtgatttag tctttccctg
     1861 cgccttaaaa aaaatcagcc cctctaatat gttcttaaaa attgattcct gcaggacacg
     1921 acatttggta ccacaataat tttcactaaa atttatattt taaacttttt ttctcatgta
     1981 tagaggaaat acatgatgga aaaatcaaaa gagtatacag ttgaaaatac aatttgaagg
     2041 ggggcaaaca agattgatat ggcaatctct ctgggattct aaggtaagag tgttgtaaac
     2101 agaaaagaaa agcttttcaa aggaactggg gacttgaatg atgggtttga attttgtctt
     2161 gaggatttgg cataggtgac tgaata
//
LOCUS       NM_001004750             939 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily B member 6
            (OR51B6), mRNA.
ACCESSION   NM_001004750
VERSION     NM_001004750.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Solovieff N, Milton JN, Hartley SW, Sherva R, Sebastiani P, Dworkis
            DA, Klings ES, Farrer LA, Garrett ME, Ashley-Koch A, Telen MJ,
            Fucharoen S, Ha SY, Li CK, Chui DH, Baldwin CT and Steinberg MH.
  TITLE     Fetal hemoglobin in sickle cell anemia: genome-wide association
            studies suggest a regulatory region in the 5' olfactory receptor
            gene cluster
  JOURNAL   Blood 115 (9), 1815-1822 (2010)
   PUBMED   20018918
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   2  (bases 1 to 939)
  AUTHORS   Bulger M, Bender MA, van Doorninck JH, Wertman B, Farrell CM,
            Felsenfeld G, Groudine M and Hardison R.
  TITLE     Comparative structural and functional analysis of the olfactory
            receptor genes flanking the human and mouse beta-globin gene
            clusters
  JOURNAL   Proc Natl Acad Sci U S A 97 (26), 14560-14565 (2000)
   PUBMED   11121057
REFERENCE   3  (bases 1 to 939)
  AUTHORS   Bulger M, van Doorninck JH, Saitoh N, Telling A, Farrell C, Bender
            MA, Felsenfeld G, Axel R and Groudine M.
  TITLE     Conservation of sequence and structure flanking the mouse and human
            beta-globin loci: the beta-globin genes are embedded within an array
            of odorant receptor genes
  JOURNAL   Proc Natl Acad Sci U S A 96 (9), 5129-5134 (1999)
   PUBMED   10220430
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1999 Jul 6;96(14):8307. von
            Doorninck JH [corrected to van Doorninck JH]]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380219.1/ ENSP00000369568.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC104389.8.
            On Sep 22, 2004 this sequence version replaced XM_372353.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..939
                     /gene="OR51B6"
                     /gene_synonym="HOR5'Beta6"
                     /note="olfactory receptor family 51 subfamily B member 6"
                     /db_xref="GeneID:390058"
                     /db_xref="HGNC:HGNC:19600"
     CDS             1..939
                     /gene="OR51B6"
                     /gene_synonym="HOR5'Beta6"
                     /note="olfactory receptor 51B5; odorant receptor
                     HOR5'beta6"
                     /codon_start=1
                     /product="olfactory receptor 51B6"
                     /protein_id="NP_001004750.1"
                     /db_xref="CCDS:CCDS31379.1"
                     /db_xref="GeneID:390058"
                     /db_xref="HGNC:HGNC:19600"
                     /translation="MGLNKSASTFQLTGFPGMEKAHHWIFIPLLAAYISILLGNGTLLF
                     LIRNDHNLHEPMYYFLAMLAATDLGVTLTTMPTVLGVLWLDHREIGHGACFSQAYFIHT
                     LSVMESGVLLAMAYDCFITIRSPLRYTSILTNTQVMKIGVRVLTRAGLSIMPIVVRLHW
                     FPYCRSHVLSHAFCLHQDVIKLACADITFNRLYPVVVLFAMVLLDFLIIFFSYILILKT
                     VMGIGSGGERAKALNTCVSHICCILVFYVTVVCLTFIHRFGKHVPHVVHITMSYIHFLF
                     PPFMNPFIYSIKTKQIQSGILRLFSLPHSRA"
     misc_feature    10..12
                     /gene="OR51B6"
                     /gene_synonym="HOR5'Beta6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9H340.2); glycosylation site"
     misc_feature    70..132
                     /gene="OR51B6"
                     /gene_synonym="HOR5'Beta6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H340.2);
                     transmembrane region"
     misc_feature    157..219
                     /gene="OR51B6"
                     /gene_synonym="HOR5'Beta6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H340.2);
                     transmembrane region"
     misc_feature    292..354
                     /gene="OR51B6"
                     /gene_synonym="HOR5'Beta6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H340.2);
                     transmembrane region"
     misc_feature    412..474
                     /gene="OR51B6"
                     /gene_synonym="HOR5'Beta6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H340.2);
                     transmembrane region"
     misc_feature    583..645
                     /gene="OR51B6"
                     /gene_synonym="HOR5'Beta6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H340.2);
                     transmembrane region"
     misc_feature    706..768
                     /gene="OR51B6"
                     /gene_synonym="HOR5'Beta6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H340.2);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR51B6"
                     /gene_synonym="HOR5'Beta6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H340.2);
                     transmembrane region"
ORIGIN
        1 atggggctca ataagtctgc ttccaccttc cagcttactg gcttcccagg catggagaag
       61 gcacatcact ggatattcat cccattattg gcagcctaca tctccatact tcttggcaat
      121 ggcactcttc tctttctcat caggaatgat cataacctcc atgagcccat gtactatttc
      181 ttagctatgt tggcagctac agacctcgga gtgacattga ccacaatgcc cacagtgcta
      241 ggtgttctgt ggttagatca cagggagatt ggccatggag cctgcttctc tcaggcctat
      301 tttatccata ctctttctgt catggagtca ggtgtcttgc ttgccatggc ttatgactgt
      361 ttcattacca tccgcagccc cttaagatat acctctatcc tgaccaacac ccaggtaatg
      421 aagattggtg tgcgggtatt gacaagggct ggtctgtcca ttatgccaat agttgttcgc
      481 ctacactggt ttccctactg tcgatcccat gtactctccc atgctttctg tctacaccaa
      541 gatgtcatca agctagcctg tgctgacatc accttcaacc gtctctatcc agttgtagtt
      601 ttatttgcaa tggtcttgtt ggactttctc atcatctttt tctcctacat tttgattctc
      661 aagactgtca tgggcattgg ttctggagga gaaagggcca aggccctcaa cacatgtgtc
      721 tctcatatct gctgcatcct ggtcttctat gtcactgtag tttgtctgac atttattcat
      781 aggtttggaa agcatgttcc tcatgtcgtt cacatcacaa tgagctacat ccacttcctt
      841 ttcccacctt ttatgaaccc atttatctat agcattaaaa ctaagcagat tcagagtggc
      901 atacttcgtt tattctctct gcctcactct agagcatga
//
LOCUS       NM_001004751            3561 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily D member 1
            (OR51D1), mRNA.
ACCESSION   NM_001004751
VERSION     NM_001004751.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3561)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 3561)
  AUTHORS   Vanti WB, Nguyen T, Cheng R, Lynch KR, George SR and O'Dowd BF.
  TITLE     Novel human G-protein-coupled receptors
  JOURNAL   Biochem Biophys Res Commun 305 (1), 67-71 (2003)
   PUBMED   12732197
  REMARK    GeneRIF: This publication uses 'GPR137' as a name for this gene.
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641817.1/ ENSP00000492986.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090719.8.
            On Aug 6, 2020 this sequence version replaced NM_001004751.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..3561
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..3561
                     /gene="OR51D1"
                     /gene_synonym="OR11-14; OR51D1Q"
                     /note="olfactory receptor family 51 subfamily D member 1"
                     /db_xref="GeneID:390038"
                     /db_xref="HGNC:HGNC:15193"
     misc_feature    118..120
                     /gene="OR51D1"
                     /gene_synonym="OR11-14; OR51D1Q"
                     /note="upstream in-frame stop codon"
     CDS             292..1266
                     /gene="OR51D1"
                     /gene_synonym="OR11-14; OR51D1Q"
                     /note="olfactory receptor OR11-14"
                     /codon_start=1
                     /product="olfactory receptor 51D1"
                     /protein_id="NP_001004751.1"
                     /db_xref="CCDS:CCDS31357.1"
                     /db_xref="GeneID:390038"
                     /db_xref="HGNC:HGNC:15193"
                     /translation="MQKPQLLVPIIATSNGNLVHAAYFLLVGIPGLGPTIHFWLAFPLC
                     FMYALATLGNLTIVLIIRVERRLHEPMYLFLAMLSTIDLVLSSITMPKMASLFLMGIQE
                     IEFNICLAQMFLIHALSAVESAVLLAMAFDRFVAICHPLRHASVLTGCTVAKIGLSALT
                     RGFVFFFPLPFILKWLSYCQTHTVTHSFCLHQDIMKLSCTDTRVNVVYGLFIILSVMGV
                     DSLFIGFSYILILWAVLELSSRRAALKAFNTCISHLCAVLVFYVPLIGLSVVHRLGGPT
                     SLLHVVMANTYLLLPPVVNPLVYGAKTKEICSRVLCMFSQGGK"
     misc_feature    406..468
                     /gene="OR51D1"
                     /gene_synonym="OR11-14; OR51D1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF3.1);
                     transmembrane region"
     misc_feature    493..555
                     /gene="OR51D1"
                     /gene_synonym="OR11-14; OR51D1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF3.1);
                     transmembrane region"
     misc_feature    628..690
                     /gene="OR51D1"
                     /gene_synonym="OR11-14; OR51D1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF3.1);
                     transmembrane region"
     misc_feature    748..810
                     /gene="OR51D1"
                     /gene_synonym="OR11-14; OR51D1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF3.1);
                     transmembrane region"
     misc_feature    919..981
                     /gene="OR51D1"
                     /gene_synonym="OR11-14; OR51D1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF3.1);
                     transmembrane region"
     misc_feature    1042..1104
                     /gene="OR51D1"
                     /gene_synonym="OR11-14; OR51D1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF3.1);
                     transmembrane region"
     misc_feature    1147..1209
                     /gene="OR51D1"
                     /gene_synonym="OR11-14; OR51D1Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF3.1);
                     transmembrane region"
ORIGIN
        1 caggctcagc ccagggaggt taggcaacgg gagggtccgc agagacaggc acagaaggct
       61 cattgcataa ggaagccggg acttgatcag tcagcttggc tgcttggaga ggtcttctag
      121 tgtacacctt ttccagatca cagtagcccg gttcctggac cttgttccta cacagaggaa
      181 tttcttcaag cctgtgagac ccgttccaag ctttgcctat cctttgtccc aggacaggac
      241 tcctcagttc ctgcctccta ctcttcactt aagcaagacc ctggattttg tatgcagaag
      301 ccccagctct tggtccctat catagccact tcaaatggaa atctggtcca cgcagcatac
      361 ttccttttgg tgggtatccc tggcctgggg cctaccatac acttttggct ggctttccca
      421 ctgtgtttta tgtatgcctt ggccaccctg ggtaacctga ccattgtcct catcattcgt
      481 gtggagaggc gactgcatga gcccatgtac ctcttcctgg ccatgctttc cactattgac
      541 ctagtcctct cctctatcac catgcccaag atggccagtc ttttcctgat gggcatccag
      601 gagatcgagt tcaacatttg cctggcccag atgttcctta tccatgctct gtcagccgtg
      661 gagtcagctg tcctgctggc catggctttt gaccgctttg tggccatttg ccacccattg
      721 cgccatgctt ctgtgctgac agggtgtact gtggccaaga ttggactatc tgccctgacc
      781 agggggtttg tattcttctt cccactgccc ttcatcctca agtggttgtc ctactgccaa
      841 acacatactg tcacacactc cttctgtctg caccaagata ttatgaagct gtcctgtact
      901 gacaccaggg tcaatgtggt ttatggactc ttcatcatcc tctcagtcat gggtgtggac
      961 tctctcttca ttggcttctc atatatcctc atcctgtggg ctgttttgga gctgtcctct
     1021 cggagggcag cactcaaggc tttcaacacc tgcatctccc acctctgtgc tgttctggtc
     1081 ttctatgtac ccctcattgg gctctcggtg gtgcataggc tgggtggtcc cacctccctc
     1141 ctccatgtgg ttatggctaa tacctacttg ctgctaccac ctgtagtcaa cccccttgtc
     1201 tatggagcca agaccaaaga gatctgttca agggtcctct gtatgttctc acaaggtggc
     1261 aagtgagaca ccttagtgtc tcgcttctac tactactaca gaagatggga atattaggat
     1321 cctattgaat gccttggtga ttaaagtatc aaacctattg tgctgtcttc ttccagcaat
     1381 ttaagtagat catgtattct gtctccagga atgtgtcagt actgaactta tgaccctgtc
     1441 tggacatcct ggagaatgac tgcactagtc cctctgctat ggtggtcttg ccttctcctt
     1501 ctctctcagc tagaaaatac atctagtttt gacatgggga ggctgtaaag atcacacctc
     1561 atggttcatt ccagttttga agtatgattt taatgttctt gcccccatgt gcccatgttg
     1621 gtgaatttgc atggactata aacgttattg caaataccct aaagtggtta cccagccata
     1681 atcaggggtt aatgaaggta tttggggaat agtaactgga gagacagcaa caagacaaga
     1741 ggcagctcac atgcaatgtt gaagtttctg tatgcaagag ggtgtgttgg cagatttgtg
     1801 aaatctgccc atttgcatct gtatggctct atatgactat ttgtccataa gggtgccatg
     1861 tattctggtt gtgggtgtga atgtgtgggt gtgtttatgt ggacacttgc ttttcagtgt
     1921 gcgtatatgt gagagagagg gtgcacacat ggaatacgta ctggttgtgt cctggtgagt
     1981 gtggtagcta tgtcctggca catgtatgtt tcatgagacg tgtctctgat tgcgcatttg
     2041 tatttctgtg gtatctgtta gttggtatat gatatgtgtc tacgtgagaa tgctggtgtc
     2101 tgtatctgca tggtgggcag tacctttatg tgtatctggt aagaatgctg cctctacctt
     2161 ttcttcctat ttgtactatg tgaatgtggt gcatgaatgt gtggaatgtg tggaatgtgt
     2221 agtattggga tgcctgtatc tttcagcgtg tttgggtgta tgtccactgt gcataatatt
     2281 tgagatgtaa aaccattttg tgcggtatat gtgttattag ttgtaagtcg gtgaaatgta
     2341 catctgaatt ctgtgtgcat attgttggta ctgatgctat tttcgtgcat atgtctagtg
     2401 tatatgtttt aaggcaaact ttctttgtgt gttgggtgtg tatgtgacac gaatggggac
     2461 agcatctgta tttctgagca tggattgatg tgtggtgtct gtatgtatct tggaatggag
     2521 gagggagatt gaagaagtct ggctgtgagc agcagaaata atttccaaag ttgagtgaca
     2581 tgactctaag atgcccagtt tctcggcctg gggtcagcct gggtgatagc tcagtctgtc
     2641 agaatgaaag gaaacacggt gcttccttgc tccacctttt cacaggccag accacacctt
     2701 cttcatcctg aacacaagga tttcaagggc ttttgttacc tcttcctacg tttcctgcct
     2761 ctgctatccg aggcactggc ctccctaaac cctgccctcc tgcctcaata gcaagtcatg
     2821 gtatcctcac ctctcccttc cctttttggc ttatctgcca aacatgtata aaagtccttg
     2881 gttccccatc tctactaaaa atacaacaat tagccgggtg tgatggcgcg tgcctgtagt
     2941 cccagctagt tgggaggctg aggcaggaga aacgcttgag cccgcaaggt ggaggttgca
     3001 gtgagccgag atcatgccac tgcactccag cctggtgaca gagcaagact ctgtgtcaaa
     3061 aaaaaaaaaa aaaaaaaagc cttggttgta gggagtttct cctaatccct ctgggaaagc
     3121 aagggtggag gggaagccag tcaatctccc ttctgttgcc gcatggaaac tcccttaagg
     3181 caggaagctg aaaaaactgt agcattcacc tcattattca ccttgtctca tgtctcactg
     3241 tccttccaca tgtctcattg ttactccata ttggatggaa gtagaagtcc ctttggtatt
     3301 ttttaaagtc tttgccatgt ctaagttaat gaggttaatg gaggcagcag agatggctcc
     3361 agggttctga tagcaagtgt caggctgcgt gctctgtagg caccagaaac tgttgtcacc
     3421 agtaattttg atgtggtctg agttagaatg gtctgatttg ccatgatcta tttaacatag
     3481 cttgatttag cgtgtcctgt gttctgaatt taaaactcac agttgtgaaa ctgatcagta
     3541 aaaaataagg ggagaccaac t
//
LOCUS       NM_001004752             960 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily F member 1
            (OR51F1), mRNA.
ACCESSION   NM_001004752
VERSION     NM_001004752.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 960)
  AUTHORS   Band G, Le QS, Jostins L, Pirinen M, Kivinen K, Jallow M, Sisay-Joof
            F, Bojang K, Pinder M, Sirugo G, Conway DJ, Nyirongo V, Kachala D,
            Molyneux M, Taylor T, Ndila C, Peshu N, Marsh K, Williams TN, Alcock
            D, Andrews R, Edkins S, Gray E, Hubbart C, Jeffreys A, Rowlands K,
            Schuldt K, Clark TG, Small KS, Teo YY, Kwiatkowski DP, Rockett KA,
            Barrett JC and Spencer CC.
  CONSRTM   Malaria Genomic Epidemiology Network
  TITLE     Imputation-based meta-analysis of severe malaria in three African
            populations
  JOURNAL   PLoS Genet 9 (5), e1003509 (2013)
   PUBMED   23717212
  REMARK    Erratum:[PLoS Genet. 2013 Jun;9(6).
            doi:10.1371/annotation/adc2beaf-4bee-4e22-925b-6788d62fe029. Malaria
            Genomic Epidemiological Network [corrected to Malaria Genomic
            Epidemiology Network]]
REFERENCE   2  (bases 1 to 960)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 960)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 960)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   5  (bases 1 to 960)
  AUTHORS   Gilad Y and Lancet D.
  TITLE     Population differences in the human functional olfactory repertoire
  JOURNAL   Mol Biol Evol 20 (3), 307-314 (2003)
   PUBMED   12644552
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000624103.2/ ENSP00000485387.2
            polymorphic pseudogene :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC103710.2.
            On Jan 3, 2019 this sequence version replaced NM_001004752.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..960
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..960
                     /gene="OR51F1"
                     /gene_synonym="OR11-21; OR51F1P"
                     /note="olfactory receptor family 51 subfamily F member 1"
                     /db_xref="GeneID:256892"
                     /db_xref="HGNC:HGNC:15196"
     CDS             1..960
                     /gene="OR51F1"
                     /gene_synonym="OR11-21; OR51F1P"
                     /note="olfactory receptor, family 51, subfamily F, member 1
                     pseudogene; olfactory receptor OR11-21 pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 51F1"
                     /protein_id="NP_001004752.2"
                     /db_xref="CCDS:CCDS31359.1"
                     /db_xref="GeneID:256892"
                     /db_xref="HGNC:HGNC:15196"
                     /translation="MLQNQDTMEILSNSTSKFPTFLLTGIPGLESAHVWISIPFCCFYA
                     IALSGNSVILFVIITQQSLHEPMYYFLFRLSATDLGLTVSSLSTTLGILWFEAREISLY
                     SCIVQMFFLHGFTFMESGVLVATAFDRYVAICDPLRYTTILTNSRIIQMGLLMITRAIV
                     LILPLLLLLKPLYFCRMNALSHSYCYHPDVIQLACSDIRANSICGLIDLILTTGIDTPC
                     IVLSYILIIHSVLRIASPEEWHKVFSTCVSHVGAVAFFYIHMLSLSLVYRYGRSAPRVV
                     HSVMANVYLLLPPVLNPIIDSVKTKQIRKAMLSLLLTK"
     misc_feature    112..174
                     /gene="OR51F1"
                     /gene_synonym="OR11-21; OR51F1P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGY5.1);
                     transmembrane region"
     misc_feature    226..288
                     /gene="OR51F1"
                     /gene_synonym="OR11-21; OR51F1P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGY5.1);
                     transmembrane region"
     misc_feature    319..381
                     /gene="OR51F1"
                     /gene_synonym="OR11-21; OR51F1P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGY5.1);
                     transmembrane region"
     misc_feature    448..510
                     /gene="OR51F1"
                     /gene_synonym="OR11-21; OR51F1P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGY5.1);
                     transmembrane region"
     misc_feature    634..696
                     /gene="OR51F1"
                     /gene_synonym="OR11-21; OR51F1P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGY5.1);
                     transmembrane region"
     misc_feature    748..810
                     /gene="OR51F1"
                     /gene_synonym="OR11-21; OR51F1P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGY5.1);
                     transmembrane region"
     misc_feature    838..900
                     /gene="OR51F1"
                     /gene_synonym="OR11-21; OR51F1P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGY5.1);
                     transmembrane region"
ORIGIN
        1 atgctgcaaa accaggacac catggaaatc ctaagcaact caacatctaa atttccaacc
       61 ttcttgttga ccggcattcc tggcctagag tctgcccatg tctggatctc cattcctttc
      121 tgttgttttt atgccattgc cctctctggg aacagcgtga tcctgtttgt catcattacc
      181 cagcagagtc tccatgaacc catgtattat ttcctcttca ggctatcagc cactgatctg
      241 ggcttgactg tttcttcatt gtcaacaaca ttaggtatcc tctggtttga ggcacgtgaa
      301 atcagtctat atagctgcat tgtccagatg ttttttcttc atggattcac ttttatggaa
      361 tctggagtgc tggtggctac agcctttgac cgttatgtgg ccatctgtga ccctctgagg
      421 tacactacca ttctcactaa ttccagaatc attcaaatgg gtcttctgat gattacacgt
      481 gctatagtac taatattgcc actacttttg ctccttaagc ctctctattt ctgtagaatg
      541 aatgcccttt ctcactccta ttgttaccat ccagatgtga ttcaattagc atgttcagac
      601 attcgggcaa atagcatctg tggattaatt gatctcatcc tgaccactgg aatagataca
      661 ccatgcattg tcctgtcata tatcttaatt attcactctg tcctcagaat tgcctcccct
      721 gaagaatggc acaaggtctt cagcacctgt gtctcccatg tgggagcagt tgctttcttc
      781 tacatccaca tgctgagcct gtccttggtg tatcgctatg gtcggtcagc ccccagagta
      841 gtccattcag tgatggctaa tgtatacctg cttttacccc ctgtgctcaa ccccatcatc
      901 gacagtgtaa aaacaaaaca aatccgcaag gctatgctca gtctgctgct tacaaaatga
//
LOCUS       NM_001004753            1136 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily F member 2
            (OR51F2), mRNA.
ACCESSION   NM_001004753
VERSION     NM_001004753.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1136)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless         :: BC136877.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000322110.8/ ENSP00000323952.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC136877.1 and AC103710.2.
            On Nov 7, 2018 this sequence version replaced NM_001004753.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1136
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1136
                     /gene="OR51F2"
                     /gene_synonym="OR11-23"
                     /note="olfactory receptor family 51 subfamily F member 2"
                     /db_xref="GeneID:119694"
                     /db_xref="HGNC:HGNC:15197"
     misc_feature    63..65
                     /gene="OR51F2"
                     /gene_synonym="OR11-23"
                     /note="upstream in-frame stop codon"
     misc_feature    66..68
                     /gene="OR51F2"
                     /gene_synonym="OR11-23"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MTETSLSSQCFP"
     CDS             102..1094
                     /gene="OR51F2"
                     /gene_synonym="OR11-23"
                     /note="olfactory receptor OR11-23"
                     /codon_start=1
                     /product="olfactory receptor 51F2"
                     /protein_id="NP_001004753.2"
                     /db_xref="CCDS:CCDS31361.2"
                     /db_xref="GeneID:119694"
                     /db_xref="HGNC:HGNC:15197"
                     /translation="MSVLNNTIAEPLIFLLMGIPGLKATQYWISIPFCLLYVVAVSGNS
                     MILFVVLCERSLHKPMYYFLSMLSATDLSLSLCTLSTTLGVFWFEAREINLNACIAQMF
                     FLHGFTFMESGVLLAMAFDRFVAICYPLRYTTILTNARIAKIGMSMLIRNVAVMLPVML
                     FVKRLSFCSSMVLSHSYCYHVDLIQLSCTDNRINSILGLFALLSTTGFDCPCILLSYIL
                     IIRSVLSIASSEERRKAFNTCTSHISAVSIFYLPLISLSLVHRYGHSAPPFVHIIMANV
                     FLLIPPVLNPIIYSVKIKQIQKAIIKVLIQKHSKSNHQLFLIRDKAIYE"
ORIGIN
        1 cagtgaatct tgaagtgcca gagagatgtt acaagtgata aactatgtat tatgtgttat
       61 gttaaatgac tgaaacatcc ctgtcttctc agtgcttccc tatgtcggtc ctcaataata
      121 ccattgctga gcctctgatc ttcctcctga tgggcattcc aggcctgaaa gccacccagt
      181 actggatctc catccctttt tgtctcctat atgttgttgc cgtctctgga aatagcatga
      241 tcctgtttgt ggtcctctgt gaacggagcc tccataagcc tatgtactat ttcctctcta
      301 tgctttcagc cacagacctg agcttgtccc tgtgtacact ttctactacc cttggtgtct
      361 tctggtttga agcccgagaa atcaacctaa atgcctgcat tgcccagatg ttctttctac
      421 acggatttac tttcatggag tctggggttc tactggccat ggcctttgat cgttttgtgg
      481 ccatctgtta cccactgaga tacactacca tccttaccaa tgcccgaatt gccaagattg
      541 ggatgagcat gttgataaga aatgttgccg tcatgttgcc agtcatgctc tttgtcaaga
      601 ggttgtcctt ctgcagttct atggtccttt cacattctta ctgctaccat gttgatctca
      661 tccaactctc ctgcacagac aataggatca acagcatcct tggtctgttt gcgcttttgt
      721 ccactacagg gtttgactgc ccttgcatcc tgctctccta tatcctgatc attcgatctg
      781 tcctcagcat tgcttcctca gaagagaggc ggaaagcctt caacacctgc acatcccaca
      841 tcagtgctgt ttccatcttc tacctccctc tcatcagttt gtctcttgtc catcgctatg
      901 gccattcagc acctccattt gtccacatca tcatggccaa tgtctttctg ctaatccctc
      961 ctgtgctcaa ccctattatt tacagtgtaa agattaagca gattcaaaag gccattatca
     1021 aggtcttaat tcagaagcac tccaaatcta atcatcagct atttctgatt agagataaag
     1081 ccatttatga ataagtgctt tgctacaatg gagtaattgt cccaaagtgc ccacac
//
LOCUS       NM_001004754            3302 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily I member 2
            (OR51I2), transcript variant 1, coding, mRNA.
ACCESSION   NM_001004754
VERSION     NM_001004754.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3302)
  AUTHORS   Milton JN, Rooks H, Drasar E, McCabe EL, Baldwin CT, Melista E,
            Gordeuk VR, Nouraie M, Kato GR, Minniti C, Taylor J, Campbell A,
            Luchtman-Jones L, Rana S, Castro O, Zhang Y, Thein SL, Sebastiani P,
            Gladwin MT and Steinberg MH.
  CONSRTM   Walk-PHAAST Investigators
  TITLE     Genetic determinants of haemolysis in sickle cell anaemia
  JOURNAL   Br J Haematol 161 (2), 270-278 (2013)
   PUBMED   23406172
  REMARK    Erratum:[Br J Haematol. 2014 Aug;166(3):468. Kato, Gregory R
            [corrected to Kata, Gregory J]]
REFERENCE   2  (bases 1 to 3302)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 3302)
  AUTHORS   Bulger M, Bender MA, van Doorninck JH, Wertman B, Farrell CM,
            Felsenfeld G, Groudine M and Hardison R.
  TITLE     Comparative structural and functional analysis of the olfactory
            receptor genes flanking the human and mouse beta-globin gene
            clusters
  JOURNAL   Proc Natl Acad Sci U S A 97 (26), 14560-14565 (2000)
   PUBMED   11121057
REFERENCE   4  (bases 1 to 3302)
  AUTHORS   Bulger M, van Doorninck JH, Saitoh N, Telling A, Farrell C, Bender
            MA, Felsenfeld G, Axel R and Groudine M.
  TITLE     Conservation of sequence and structure flanking the mouse and human
            beta-globin loci: the beta-globin genes are embedded within an array
            of odorant receptor genes
  JOURNAL   Proc Natl Acad Sci U S A 96 (9), 5129-5134 (1999)
   PUBMED   10220430
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1999 Jul 6;96(14):8307. von
            Doorninck JH [corrected to van Doorninck JH]]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641930.1/ ENSP00000493016.1
            polymorphic pseudogene :: based on alignments, homology
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC087380.3.
            On Aug 11, 2020 this sequence version replaced NM_001004754.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1, coding) represents the
            protein-coding allele encoded by the GRCh38 reference genome.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..3302
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..3302
                     /gene="OR51I2"
                     /gene_synonym="OR11-38"
                     /note="olfactory receptor family 51 subfamily I member 2"
                     /db_xref="GeneID:390064"
                     /db_xref="HGNC:HGNC:15201"
     misc_feature    258..260
                     /gene="OR51I2"
                     /gene_synonym="OR11-38"
                     /note="upstream in-frame stop codon"
     CDS             273..1211
                     /gene="OR51I2"
                     /gene_synonym="OR11-38"
                     /note="olfactory receptor OR11-38; HOR5'Beta12; odorant
                     receptor HOR5'beta12"
                     /codon_start=1
                     /product="olfactory receptor 51I2"
                     /protein_id="NP_001004754.1"
                     /db_xref="CCDS:CCDS31383.1"
                     /db_xref="GeneID:390064"
                     /db_xref="HGNC:HGNC:15201"
                     /translation="MGLFNVTHPAFFLLTGIPGLESSHSWLSGPLCVMYAVALGGNTVI
                     LQAVRVEPSLHEPMYYFLSMLSFSDVAISMATLPTVLRTFCLNARNITFDACLIQMFLI
                     HFFSMMESGILLAMSFDRYVAICDPLRYATVLTTEVIAAMGLGAAARSFITLFPLPFLI
                     KRLPICRSNVLSHSYCLHPDMMRLACADISINSIYGLFVLVSTFGMDLFFIFLSYVLIL
                     RSVMATASREERLKALNTCVSHILAVLAFYVPMIGVSTVHRFGKHVPCYIHVLMSNVYL
                     FVPPVLNPLIYSAKTKEIRRAIFRMFHHIKI"
     misc_feature    285..287
                     /gene="OR51I2"
                     /gene_synonym="OR11-38"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9H344.1); glycosylation site"
     misc_feature    348..410
                     /gene="OR51I2"
                     /gene_synonym="OR11-38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H344.1);
                     transmembrane region"
     misc_feature    435..497
                     /gene="OR51I2"
                     /gene_synonym="OR11-38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H344.1);
                     transmembrane region"
     misc_feature    570..632
                     /gene="OR51I2"
                     /gene_synonym="OR11-38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H344.1);
                     transmembrane region"
     misc_feature    690..752
                     /gene="OR51I2"
                     /gene_synonym="OR11-38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H344.1);
                     transmembrane region"
     misc_feature    861..923
                     /gene="OR51I2"
                     /gene_synonym="OR11-38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H344.1);
                     transmembrane region"
     misc_feature    984..1046
                     /gene="OR51I2"
                     /gene_synonym="OR11-38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H344.1);
                     transmembrane region"
     misc_feature    1092..1154
                     /gene="OR51I2"
                     /gene_synonym="OR11-38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H344.1);
                     transmembrane region"
ORIGIN
        1 ggaagaactt gttctgtggg tgtctcatca gtctctcttc tgagggaaat attagctcag
       61 cctgcaggct gatcatcata aaatatgaag aaaaggagtt tgcctgcatc atctcaaaag
      121 cagtgatttc atgaatgcgt cagtttccat ttatgtcaac atcatcgctt tgtctcttat
      181 ctcctgattt cttgtcctcc agcaagtgca actgttagaa ttctccaagt cagaagatct
      241 gactctgaaa agtaccctaa gtttgttttg ctatggggtt gttcaatgtc actcaccctg
      301 cattcttcct cctgactggt atccctggtc tggagagctc tcactcctgg ctgtcagggc
      361 ccctctgcgt gatgtatgct gtggcccttg ggggaaatac agtgatcctg caggctgtgc
      421 gagtggagcc cagcctccat gagcccatgt actacttcct gtccatgttg tccttcagtg
      481 atgtggccat atccatggcc acactgccca ctgtactccg aaccttctgc ctcaatgccc
      541 gcaacatcac ttttgatgcc tgtctaattc agatgtttct tattcacttc ttctccatga
      601 tggaatcagg tattctgctg gccatgagtt ttgaccgcta tgtggccatt tgtgacccct
      661 tgcgctatgc aactgtgctc accactgaag tcattgctgc aatgggttta ggtgcagctg
      721 ctcgaagctt catcaccctt ttccctcttc cctttcttat taagaggctg cctatctgca
      781 gatccaatgt tctttctcac tcctactgcc tgcacccaga catgatgagg cttgcctgtg
      841 ctgatatcag tatcaacagc atctatggac tctttgttct tgtatccacc tttggcatgg
      901 acctgttttt tatcttcctc tcctatgtgc tcattctgcg ttctgtcatg gccactgctt
      961 cccgtgagga acgcctcaaa gctctcaaca catgtgtgtc acatatcctg gctgtacttg
     1021 cattttatgt gccaatgatt ggggtctcca cagtgcaccg ctttgggaag catgtcccat
     1081 gctacataca tgtcctcatg tcaaatgtgt acctatttgt gcctcctgtg ctcaaccctc
     1141 tcatttatag cgccaagaca aaggaaatcc gccgagccat tttccgcatg tttcaccaca
     1201 tcaaaatatg actttcacac ttggctttag aatctgttat tttggccata ggctctcatc
     1261 agtagcatcg tcatcatcat catcaaagta taagatagat tgtgtgctgc gggaaaagta
     1321 ggccaggaga tggtgatgca aaacttataa cacaaaacaa ggagttccaa atgaatagta
     1381 cattcactaa ataccaacag tattcttaga aagataaata ttgggggcaa ttgagtaatt
     1441 agacaagttt tacagaggaa gactaattta agctaggaat tattttctat aataatgaat
     1501 attactaata taataattaa caaacttagt cctaaaatgt atcaagtact attataaatt
     1561 atttgtgtgt attaattcac ttaatattca tacaaatcct ctaagacaca gagaattaag
     1621 ttaattcttc agcctaacac agataatatg tggtccagtt gacattcaac actaatctct
     1681 ctctagtgtc agtgcagcac ccaaccggta taaatatggc ctgacggtca aattggcatc
     1741 atttaacatt accattgctg cctttgcttt ccccaccact gtcattctca aacactcata
     1801 cattgcttta acttcacaaa gtgaaatcag cttaactatt agaactcacc ataaaatgta
     1861 tgaacaaatg tgatccaggt aaactgatag atattgccat ttaggaaaat ctccagattc
     1921 ttctttactt cttttatctg cccaccactc aatccttacc aacagaaaac aatgttcaat
     1981 atctgaaata tctgactcat agaattttgg gggaaagggg gaattgtggt aggggcacaa
     2041 tttctatttc tctttccttc ttgagatttt aactgtcttc cacaaaatga catgttaaga
     2101 gatgttagaa attaagtcag tctaggattt ccagttgcaa aaaaaaaaag cctaggatag
     2161 acagactaga gcacttatgg tttagatacc agaaaataat tctttcagac cttctcatac
     2221 gcttcccttg ataccagagg taggatatag taagaaattc cttggtgcta attttggtgc
     2281 tgtcatacta agtttagatc tacttgtaga tcaaaagaga gcgagggatt gggggagaaa
     2341 gaagggggga gagagagaga gaaagagaaa gagagaaaga gaaaaagaga aagagaaaga
     2401 gagaaagaga gagagagaga tgcactaggt agtctaactt aactcaccat ggaaactcat
     2461 ccagaaacca cgtagtagca aagcatattg ttatctagag gttttttctc tttgtattga
     2521 ggaaatacca acaagagaga gagtcagaaa gagggagcta ttttaaaaat gagataatgt
     2581 aagtacttgg gattcagatt tttttcaaaa atgtctacag gtacaataag acaccaataa
     2641 tatatgtgtc ctggcccact aaatagattg cttttagaag aatgtttgga tagcataact
     2701 tagtatgatt tccaatggaa aattattaga atatttagtg gtttaaagta tggtcttcag
     2761 tcaatttaaa taataacttt tctgattcat attagaagct cctatttcaa catgaaataa
     2821 taattttaat gctttgatat tttagtttca aatatataca acaaatacat aaatgcaaag
     2881 gcaaggctta gggaagccgc caaatgaaag taaactctca ctgattccta cctcagaagc
     2941 agcgagggat acattctttt gaccataggc cttacttaga aacccaatgg tgtaacatag
     3001 aaagggcaag gaacaagaaa atatgagcct cccaaaaagc ctctggctcc tttgtacctt
     3061 aatttcacct tccttttttc agcattaatt aaaagagcta ctgattttca ggttctaatg
     3121 gaaaatgcac atttatattt ttccctccct catgagacag atgccataag aaaaatgtag
     3181 ggccactcct gcagctctaa tcctaaaaag gtctaagcta agccctgttt ttgttttttt
     3241 gaccttgggt taaaaactct ttaacttctt tttatttaac ataatctttt ttgaactcaa
     3301 ca
//
LOCUS       NM_001004755            7300 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily L member 1
            (OR51L1), mRNA.
ACCESSION   NM_001004755
VERSION     NM_001004755.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7300)
  AUTHORS   Milton JN, Rooks H, Drasar E, McCabe EL, Baldwin CT, Melista E,
            Gordeuk VR, Nouraie M, Kato GR, Minniti C, Taylor J, Campbell A,
            Luchtman-Jones L, Rana S, Castro O, Zhang Y, Thein SL, Sebastiani P,
            Gladwin MT and Steinberg MH.
  CONSRTM   Walk-PHAAST Investigators
  TITLE     Genetic determinants of haemolysis in sickle cell anaemia
  JOURNAL   Br J Haematol 161 (2), 270-278 (2013)
   PUBMED   23406172
  REMARK    Erratum:[Br J Haematol. 2014 Aug;166(3):468. Kato, Gregory R
            [corrected to Kata, Gregory J]]
REFERENCE   2  (bases 1 to 7300)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641819.1/ ENSP00000493015.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018375.8, AC113331.6 and KC877390.1.
            On Jul 27, 2020 this sequence version replaced NM_001004755.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..7300
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..7300
                     /gene="OR51L1"
                     /gene_synonym="OR11-31"
                     /note="olfactory receptor family 51 subfamily L member 1"
                     /db_xref="GeneID:119682"
                     /db_xref="HGNC:HGNC:14759"
     misc_feature    684..686
                     /gene="OR51L1"
                     /gene_synonym="OR11-31"
                     /note="upstream in-frame stop codon"
     CDS             747..1694
                     /gene="OR51L1"
                     /gene_synonym="OR11-31"
                     /note="olfactory receptor OR11-31"
                     /codon_start=1
                     /product="olfactory receptor 51L1"
                     /protein_id="NP_001004755.1"
                     /db_xref="CCDS:CCDS31369.1"
                     /db_xref="GeneID:119682"
                     /db_xref="HGNC:HGNC:14759"
                     /translation="MGDWNNSDAVEPIFILRGFPGLEYVHSWLSILFCLAYLVAFMGNV
                     TILSVIWIESSLHQPMYYFISILAVNDLGMSLSTLPTMLAVLWLDAPEIQASACYAQLF
                     FIHTFTFLESSVLLAMAFDRFVAICHPLHYPTILTNSVIGKIGLACLLRSLGVVLPTPL
                     LLRHYHYCHGNALSHAFCLHQDVLRLSCTDARTNSIYGLCVVIATLGVDSIFILLSYVL
                     ILNTVLDIASREEQLKALNTCVSHICVVLIFFVPVIGVSMVHRFGKHLSPIVHILMADI
                     YLLLPPVLNPIVYSVRTKQIRLGILHKFVLRRRF"
     misc_feature    759..761
                     /gene="OR51L1"
                     /gene_synonym="OR11-31"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGJ5.1); glycosylation site"
     misc_feature    828..890
                     /gene="OR51L1"
                     /gene_synonym="OR11-31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ5.1);
                     transmembrane region"
     misc_feature    915..977
                     /gene="OR51L1"
                     /gene_synonym="OR11-31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ5.1);
                     transmembrane region"
     misc_feature    1050..1112
                     /gene="OR51L1"
                     /gene_synonym="OR11-31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ5.1);
                     transmembrane region"
     misc_feature    1170..1232
                     /gene="OR51L1"
                     /gene_synonym="OR11-31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ5.1);
                     transmembrane region"
     misc_feature    1341..1403
                     /gene="OR51L1"
                     /gene_synonym="OR11-31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ5.1);
                     transmembrane region"
     misc_feature    1464..1526
                     /gene="OR51L1"
                     /gene_synonym="OR11-31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ5.1);
                     transmembrane region"
     misc_feature    1572..1634
                     /gene="OR51L1"
                     /gene_synonym="OR11-31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ5.1);
                     transmembrane region"
ORIGIN
        1 gtcgaaggtt ttcaaaacct gaggttcata gagacttaaa attgtagcat ctttaatcag
       61 tacaggtttg attttcaggt agagatggga agttttctca ggtgagagat aagcccgtaa
      121 gagcagcaac ttaaaccaca gacacacaaa gagaaattag aagaaagaaa cagccaatca
      181 aagggaccgg aaaaaataga ggattacatg ctgaaaagac acaaacttag ataaaaacaa
      241 aatataaaaa aatggcagca ggaaggaggc tagaaaagat agtaaagata atttgacaca
      301 taaaatgaga taaagagaga aaaagccaca gacataggaa cagaaagaaa atatgacttt
      361 aactatagtg aagaaaagtt tagtcagaga aagacaaaat ggaactgtgg atcatttgag
      421 aaatgggcta ctgattgcaa attaactagg catattgatt caattgcctt atatttaaat
      481 ttcaggtcag agactaaggg tccagaagga gggttgaggg aattactgag atgttgctac
      541 agagagatgt tgctgaagtc tatgaggccc agactctaag ggacaagggc cgacaagaga
      601 taccagcttc cttcctctgt gaggttagac gaaagatgta tttttgtcct cattccatta
      661 tttgtactca aaagagataa ctttgaggga tcaggaagga aaacacgaac cattcctcac
      721 tacttgctga attactcaaa gtcactatgg gagactggaa taacagtgat gctgtggagc
      781 ccatatttat cctgaggggt tttcctggac tggagtatgt tcattcttgg ctctccatcc
      841 tcttctgtct tgcatatttg gtagcattta tgggtaatgt taccatcctg tctgtcattt
      901 ggatagaatc ctctctccat cagcccatgt attactttat ttccatctta gcagtgaatg
      961 acctggggat gtccctgtct acacttccca ccatgcttgc tgtgttatgg ttggatgctc
     1021 cagagatcca ggcaagtgct tgctatgctc agctgttctt catccacaca ttcacattcc
     1081 tggagtcctc agtgttgctg gccatggcct ttgaccgttt tgttgctatc tgccatccac
     1141 tgcactaccc caccatcctc accaacagtg taattggcaa aattggtttg gcctgtttgc
     1201 tacgaagctt gggagttgta cttcccacac ctttgctact gagacactat cactactgcc
     1261 atggcaatgc cctctctcac gccttctgtt tgcaccagga tgttctaaga ttatcctgta
     1321 cagatgccag gaccaacagt atttatgggc tttgtgtagt cattgccaca ctaggtgtgg
     1381 attcaatctt catacttctt tcttatgttc tgattcttaa tactgtgctg gatattgcat
     1441 ctcgtgaaga gcagctaaag gcactcaaca catgtgtatc ccatatctgt gtggtgctta
     1501 tcttctttgt gccagttatt ggggtgtcaa tggtccatcg ctttgggaag catctgtctc
     1561 ccatagtcca catcctcatg gcagacatct accttcttct tcccccagtc cttaacccta
     1621 ttgtctatag tgtcagaaca aagcagattc gtctaggaat tctccacaag tttgtcctaa
     1681 ggaggaggtt ttaagtaacc tctgtcctcc aacttttcca ctgaaaatct catggaagct
     1741 gttttagtat atgaaaagta aaatatctgg gtgttgctca tctggttaaa atcctaattc
     1801 tttcacttct tatacatgta atttcagtta atctttaacc aatatgaaac tcaggatttt
     1861 tttggacaaa ttgtgacaac tatggcctta cgttgtcccc aggtcattac aagacttata
     1921 atagaaaatg tatgtgctaa gtcaagtttt ttgaaaacta tacaaaatta ttaatgttat
     1981 taagttgtca ttgttgttaa tgataacagt attttccttc ttaaatgtag ctgtgtttat
     2041 attgtttctc atgttaatta tctaaaactc agaaatcaat ctctatctct tttactagta
     2101 ctgctgcacg tattttgttg ttcatgctac aatgtcataa ctgtttatga aaaatttgag
     2161 tccttagggc aagtttggaa cttgagttcc tgacaggatt ttgacctgct gctgtggcca
     2221 tttgctatgt acaagttcta atctcatcac ttagtgatgt gtcctttctc tcattgctat
     2281 tctagatcta tcagcttcct caatttgcca gcaaatactg agttagatac atgggagtgt
     2341 taccaaatat agtttcagtt gatgccactt gcaaaatcat ataacaagaa tgaaggtggt
     2401 aagaagaatg ttactattcc agagcttagt gatgagaaag ggccagattt gtactgaaag
     2461 gagacacttc agcattctgg gcagaaagca gggttttaat aagagaaatt ttggtatgca
     2521 ggccatgcag aaggcacata gacttgtggg gtctataagg cttgctcacg gatgtttatc
     2581 ttgggtcatc tggtgggtca tccagtagtc tggccagtgg gggagaattt ggtagggtgc
     2641 ttggtttgtt ttaagacttg gtctatggaa cttctttttc tttctttttc ttttgagact
     2701 gagtcttgct ctgtcaccca ggtggaagtg caatggcgtg atctctgctc actgcaacct
     2761 tcgcctccta ggttcaagca attctcctgc cccagcctcc cgaatagctg ggatgacagg
     2821 tctgcgccac catccccagc taatttttgt atttttagta gatgcggggt ttcaccatgt
     2881 tgggcaggct ggactcgaac tcctgacctc aggtgatctg cccactttgg cctcccaaag
     2941 tgctgggatt acaggcgtga gctccctaga ccagctggcc tatggaactt ctaagaaaac
     3001 gtagagtaat ataaggaagt cgtgcttgca ggtggtttgg ccagtggaaa gaaaggaatg
     3061 taaaggtcgt aattgcatta ctaaagagca aaataagagg tgacggaaaa ggggaaaaat
     3121 tgtaaaatat acatatatat tttaaagaaa atggggtact cagttacagg aattgttgaa
     3181 gaaagcctga cagtacatgt ctaaccatct gggcaattgt gttgactctg ttcaatacta
     3241 taggacagga ttttgtgtct taatttgtga atgggttaag agttgtgcac aatctcaacc
     3301 ctcatctttt aataatactt ttacctcttg ttctacatgc ctgtgtggat ctgtagtatt
     3361 gtgtttttaa tcaatttatt tttgataacc cattactttt ttctttttca ctagaatgaa
     3421 ctacagatat gtttttatgg gtgatatttt attatttcat ataaattcac tttcttttca
     3481 gctgtatagc acactttttg aatatggggc catgtctatt accttatcac agcactatac
     3541 agctggtctt ccccaacaat catgagtact cattaaataa ttgaaataac tattatagtt
     3601 attgctgtta gtactgtgga tatataaaca gcaaaatgca taacgttaat gttaaataat
     3661 gaatgtttaa tagtgaagat acatagataa aaggttagta aaattaagtg taatcaatgg
     3721 tattattgga acaggtacct tttataatat tgatatatta ataagtggtc aatttcactt
     3781 gaggatttaa gaatcagtaa tcagagtagt tgacactttc actgtgcatt gtgagtcaaa
     3841 ttcattcttg accagttgaa cacagttgga aataaagtgg cgtaccaaag ctggcacata
     3901 agagacaatt gtgcatatct tgttctgctt ttgtgctctg taatgtcata taggttaatg
     3961 aaattggtta tgatggaagt atttaaacca cagaaattgg taaacattat atatcaggac
     4021 ttgaaatttt ttcttagaga ggaggtggtt aaacacttac caacacatca ctgggaaagg
     4081 tattctagaa agaggaggta acatgaagaa agcaaagagg ttagaaagag tatgtgttag
     4141 caacgttctt cagtctaact taaaacttac ccaaagcatt ttgcatttcc tcccacaaaa
     4201 aaagggctct gacatgggct atgatggaca aagatatgta gtttcagccc catttcaatg
     4261 aaagacttgt agccccagct gctggcagta agtccagtag aaagccttca attttttttt
     4321 ttttaccttt tcaggaattg cctcagctgg agaaatgagc cttgcctggg gtcatccact
     4381 gacacattca atgactaatg tagaaagttg gaaaggtctg gccccttcag cccagtgaat
     4441 ttcactgggc aattttatat ccaggactcc ccgtgatgtt ggacaaggct atcttcaggc
     4501 ctgattcaca ggtcaacttt tccctctgcc caatcctacc cactttcatt ccttttcatt
     4561 taagatgatt atcccaggga ttctcttatt aaacaaactg cacactaaat tttacctcaa
     4621 agtctgcttc ccagagaacc ctgaaatgag aagttctcag aaaacctgtg acgtaaaggt
     4681 gttaggggtg gctaatatcc aagtctcatg acatcaaata tattactggt ggaaggtatt
     4741 caagttacca gtggcaaatc catacgggtc tgcagcaacc tcaatttttg cctcctcaga
     4801 agaaagaaat tgactgaggg gcataaggca gagaaagaga tcaaggcaag tttcgagcag
     4861 gagtggaagt ttatttaaaa atgctttaga agaggaaaaa aggaaagtac gcttggaaga
     4921 gacccaaggg taaattgaag gacaagtgct gtgtttaacc ttaatcctag gaccttatag
     4981 tctggcgcct ttcccgtgat ccttccctta gagtgggcta cccacatgca cagtgccctc
     5041 cttaccctta ggaagtgagc atgcacagtg tgtttaggaa gttgtacacg tgcccatctg
     5101 aggctttctt ccctttctcg gtggtgtgcc ctcagaaggt catactcctt cattttgtct
     5161 cttaatgcac atgtctagaa agttacttcc ttttggcatc tgcattctat tagcagttta
     5221 gtgcaacagg tgtggaccat caggaaatgg cctctccctg gcgcaggctg ccaatttatc
     5281 acttttagag aggcaatgtg ataattgccc aaccattgcc taacattact agtgggtaag
     5341 ctagagccct ttcctgcccc actcatgcct aactacctgt aacatagaaa gataaaataa
     5401 aattctcaag gattcctttt tttcaggcag atgaaacagg atgagaattc aagagcaaat
     5461 atccatggtt tttaaatctc ttaagtttca agcggaagat caaacacagt gtgtaagcct
     5521 ggagaactaa aaataaccta taattcaagt tgacattgtg agatgtatgt atacaaccat
     5581 cttctacaat ctatgtactt tcttaatagt atgtctgatg actagaaatg ttcttaattt
     5641 taattaagtc caacttataa atttgctttt atgtttagtg cttttgtgta tttttaagga
     5701 gatatttgcc tattctgtca ttcaggatcc agtaagaaga caaaaatcac acagtaattt
     5761 gaatagagtt tataaataca aatacttatt aatttcataa ggaaatcaac tttaaagaag
     5821 gtaaagacaa cgctgagtaa taccctagag ctaagagaga atattgaaag aaaaaacaaa
     5881 cttggaaaat ggggaaggta ctccccaagc ccgaggttga aacttcattt gagaatgcat
     5941 agtcttagca tcctggatgc cagaaaaggt cattacattg catgtgttta gaaagacact
     6001 tctgtggggt ataggtgaac caaggctgag agactaagat tccttttcag gactgagtag
     6061 taggaagcac caggtgagct gaggcttgta ggcagggaac tatagttggc attggcaagc
     6121 aaatgataac ccccctttga agtacaggtg ggcagcaaat cacagtttgg actgacaagc
     6181 tggaaacacc cctccagggt ccaaataggt tatttgggaa gccagtccct agagtaactg
     6241 caagactcag taagagtcta gccatatggg tattgttgaa atttgatagg atgagtatta
     6301 ctaaatattt ctcattacac gcctctggta gaagagagag aataatcaaa gagaagtaca
     6361 cacgaacttc tcttacaagt gtccctgcgg caccctctgc tggccaagtt taacatcatg
     6421 aatctgtgaa ggaaaaaatg tccattgagc ccagttccat tgttgcagag taagcaatga
     6481 agtctatatt tgaaactggg acaataaata aataactgac acatttgctg atattatcaa
     6541 tgatgtcctt ctgtgtaatt tttgaaagtt gtaaggcttt ccttttgata tttctaaata
     6601 caacacatgt agaatttatt tttatgaatg atgaggtaag gtcaaggcat attttttgat
     6661 atgaatacat agttcagtca gaactatgta aaagaaaata aaaattgaag gaccccccaa
     6721 acttgtgcag aagtaaagac taagtcctga agctgaatca ttgcaacact ctcttccaca
     6781 tgaataactg ttactaacat tatatatcag ccagactgga aaggtaaatg gcctcaggca
     6841 tctgggaagg gctacccaca gatcattcat aagtaaattc tttgcttgcc tcccataaac
     6901 aaggacacgc tagttgtaaa tttaggtcca caatccaggt ctagctccta aaactccaca
     6961 ccgattatgt cacttacaag tttatcttcc caggtgcaga aaagtcaaga ttcattttct
     7021 tcacctaccc agagacgact acatgattga gtcttccttt actccctttc tcgcttcaga
     7081 cattcacctt atcttacgta aaatgtagat ttactgaaca ctaactgaag tctcaggaat
     7141 gtaactattt cccctactgc ccaacctaca tgcctccccc ttcccccttt taaggaaatg
     7201 gataaataca caatgtcctg aaaacctttg tggaaatagc cacagatgtg tcggtggctt
     7261 ttgtttttcc cagaagtgcc ctaaacctgg cttaataaac
//
LOCUS       NM_001004756            4092 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily M member 1
            (OR51M1), mRNA.
ACCESSION   NM_001004756
VERSION     NM_001004756.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4092)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 4092)
  AUTHORS   Bulger M, Bender MA, van Doorninck JH, Wertman B, Farrell CM,
            Felsenfeld G, Groudine M and Hardison R.
  TITLE     Comparative structural and functional analysis of the olfactory
            receptor genes flanking the human and mouse beta-globin gene
            clusters
  JOURNAL   Proc Natl Acad Sci U S A 97 (26), 14560-14565 (2000)
   PUBMED   11121057
REFERENCE   3  (bases 1 to 4092)
  AUTHORS   Bulger M, van Doorninck JH, Saitoh N, Telling A, Farrell C, Bender
            MA, Felsenfeld G, Axel R and Groudine M.
  TITLE     Conservation of sequence and structure flanking the mouse and human
            beta-globin loci: the beta-globin genes are embedded within an array
            of odorant receptor genes
  JOURNAL   Proc Natl Acad Sci U S A 96 (9), 5129-5134 (1999)
   PUBMED   10220430
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1999 Jul 6;96(14):8307. von
            Doorninck JH [corrected to van Doorninck JH]]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642046.1/ ENSP00000493005.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104389.8.
            On Jul 28, 2020 this sequence version replaced NM_001004756.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..4092
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..4092
                     /gene="OR51M1"
                     /gene_synonym="HOR5'Beta7; OR11-40"
                     /note="olfactory receptor family 51 subfamily M member 1"
                     /db_xref="GeneID:390059"
                     /db_xref="HGNC:HGNC:14847"
     misc_feature    207..209
                     /gene="OR51M1"
                     /gene_synonym="HOR5'Beta7; OR11-40"
                     /note="upstream in-frame stop codon"
     CDS             228..1208
                     /gene="OR51M1"
                     /gene_synonym="HOR5'Beta7; OR11-40"
                     /note="olfactory receptor OR11-40; odorant receptor
                     HOR5'beta7"
                     /codon_start=1
                     /product="olfactory receptor 51M1"
                     /protein_id="NP_001004756.2"
                     /db_xref="CCDS:CCDS53596.1"
                     /db_xref="GeneID:390059"
                     /db_xref="HGNC:HGNC:14847"
                     /translation="MSVQYSLSPQFMLLSNITQFSPIFYLTSFPGLEGIKHWIFIPFFF
                     MYMVAISGNCFILIIIKTNPRLHTPMYYLLSLLALTDLGLCVSTLPTTMGIFWFNSHSI
                     YFGACQIQMFCIHSFSFMESSVLLMMSFDRLVAICHPLRYSVIITGQQVVRAGLIVIFR
                     GPVATIPIVLLLKAFPYCGSVVLSHSFCLHQEVIQLACTDITFNNLYGLMVVVFTVMLD
                     LVLIALSYGLILHTVAGLASQEEQRRAFQTCTAPLCAVLVFFVPMMGLSLVHRFGKHAP
                     PAIHLLMANVYLFVPPMLNPIIYSIKTKEIHRAIIKFLGLKKASK"
     misc_feature    273..275
                     /gene="OR51M1"
                     /gene_synonym="HOR5'Beta7; OR11-40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9H341.4); glycosylation site"
     misc_feature    348..410
                     /gene="OR51M1"
                     /gene_synonym="HOR5'Beta7; OR11-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H341.4);
                     transmembrane region"
     misc_feature    456..518
                     /gene="OR51M1"
                     /gene_synonym="HOR5'Beta7; OR11-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H341.4);
                     transmembrane region"
     misc_feature    558..620
                     /gene="OR51M1"
                     /gene_synonym="HOR5'Beta7; OR11-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H341.4);
                     transmembrane region"
     misc_feature    723..785
                     /gene="OR51M1"
                     /gene_synonym="HOR5'Beta7; OR11-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H341.4);
                     transmembrane region"
     misc_feature    867..929
                     /gene="OR51M1"
                     /gene_synonym="HOR5'Beta7; OR11-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H341.4);
                     transmembrane region"
     misc_feature    984..1046
                     /gene="OR51M1"
                     /gene_synonym="HOR5'Beta7; OR11-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H341.4);
                     transmembrane region"
     misc_feature    1074..1136
                     /gene="OR51M1"
                     /gene_synonym="HOR5'Beta7; OR11-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H341.4);
                     transmembrane region"
ORIGIN
        1 ccacagcctt gtgcctctca gtgacccttg tgtcatcctt atctatactc ttctttcttc
       61 ctttggaacc tactcattgg cttcacattt ttgttattac ctgctgacat cttgtttcta
      121 ccagatcctt ctccctgtcc atctcatcac tctgaagttg gtgaacacag agctgacaac
      181 agaaccccag gcacaaagaa tcaggataag agctcaatcc ccgaggaatg tcagtccaat
      241 attcgctcag tcctcaattc atgctgctat ccaacattac tcagtttagc cccatattct
      301 atctcaccag ctttcctgga ttggaaggca tcaaacactg gattttcatc ccctttttct
      361 ttatgtacat ggttgccatc tcaggcaatt gtttcattct gatcattatt aagaccaacc
      421 ctcgtctgca cacacccatg tactatctac tatccttgct ggccctcact gacctggggc
      481 tgtgtgtgtc cacgttgccc accactatgg ggatcttctg gtttaactcc catagtatct
      541 actttggagc gtgtcaaatc cagatgttct gcatccactc tttttccttc atggagtcct
      601 cagtgctcct catgatgtcc tttgaccgcc ttgtggccat ctgccaccct ctgaggtatt
      661 cggtcattat cactggccag caagtggtca gagcaggcct aattgtcatc ttccggggac
      721 ctgtggccac tatccctatt gtcctcctcc tgaaggcttt tccctactgt ggatctgtgg
      781 tcctctccca ctcattttgc ctgcaccagg aagtgataca gctggcctgc acagatatca
      841 ccttcaataa tctgtatgga ctgatggtgg tagttttcac tgtgatgctg gacctggtgc
      901 tcatcgcact gtcctatgga ctcatcctgc acacagtagc aggcctggcc tcccaagagg
      961 agcagcgccg tgcctttcag acatgcaccg ctcctctctg tgctgtgcta gtattctttg
     1021 tgcccatgat ggggctgtcc ctggtgcacc gttttgggaa gcatgcccca cctgctattc
     1081 atcttcttat ggccaatgtc tacctttttg tgcctcccat gcttaaccca atcatataca
     1141 gcattaagac caaggagatc caccgtgcca ttatcaagtt cctaggtctt aaaaaggcca
     1201 gtaaatgagt cctggggcta aaactccccc tagaggccta taagaaggcc ccaaattgga
     1261 ctgaaaattt ggagtattga gtatatagca tgctcttaaa gattttttgc ccctgtccta
     1321 aataaaatat gggcaaattt atgtctggag ttgtggcttt aaaaaactga acttctcttg
     1381 cttagatttt aatggctcct cctacagctg agaactggca tttttggtag catcaaagct
     1441 atccagaagg caactttatt gaaggtcatc atcaatgtaa ctaaaactaa aatgaaacta
     1501 aataaaaact aaaaagaaca ataaatacca gagcacccag aggagagcct ggcagagacc
     1561 aggtaaatgc catttgctct aactcacctc cggaaataca cctccttcca tggttccttg
     1621 ggactgcttc catcttatct acctggccaa gtttcttctc atctttttct atcctggtca
     1681 gcagtaactt tcagaccccc aagtcacatc agaaacctca gaactcctgc attcttcctc
     1741 aacacctgtt tcaagcaaca cccccccaaa tttctaaggt tgtgctctct cctgaccata
     1801 ttcctctaga agaagagact ttgatcctat ccttgactcc tctcatctct gattttacct
     1861 tacaacctca agtctgacat taagctacag tcagtattta cttgtaggtg ttttagttgt
     1921 gtgatattga acaatgacat gtaacgtgag aaagcttcag ccaaggaaac tcacacaaac
     1981 atattgaagt cacaatccca ttgctcagga ggaaataaac tttacattgg ctgatcagcc
     2041 tgtccctacg agtgactaaa tgcaatcctt gcaggggtct cagctttgaa attgcttcct
     2101 caaggacatt ttcacagata gctcctccct ttccaatggt aaagcaccaa atgctccatc
     2161 ggtttccttc cacagtgccc tgcatttccc gttgtaacat ttgtcacaca gtaatgtcct
     2221 gtttatgaag gtgtgtgcat gtgtccatta gaatgactaa atcaagatcc ctggaggaat
     2281 taggcatgtc ttgctcgcca gtaaatgtat ataaatacaa tgcctagcac atgccatata
     2341 ctcaataaat attaaatgta tgcgtggaca tatagataca taaagaggga tccagagcta
     2401 acagaagttc tcttcttgtc tcgaggaact cctcctcttc acattcagaa gcccaagaag
     2461 acacctttct gctggcatcc atcaaggtgg tatatcttca ttgtcccagt tctactttac
     2521 tcaggccctc tggatcctcc cacccattct cctacaggtt aaaattacca tgaggccagg
     2581 cacggtggct tatgctataa tcccagcact ttgggagacc aaggtgggag gattgctgaa
     2641 ggccaggagt ttgagaccaa cttcaggcaa gaagattact tgagtccagg agtttgagac
     2701 cagcctgaac aatacagcaa gaccctatct ctacaaaaaa aattaaaatt agccatgtgt
     2761 ggcggtgcac gtctgtagtc tcagctacct gggaggctga ggtgggaaga atgcttgagc
     2821 ccaggaggtt gaggctgcag tgagccataa tcacactact gcctgggtga ccaagtgaga
     2881 ccccgattca aaaataaaaa ggaaaacaaa caaaattaca aagcgaaatt taaaaaagaa
     2941 ccaaactcta aaaatatgta tgtatgtttg tgcggtttct tgtgtatgtt tgtgtggtat
     3001 ctcatgtttg tatgtgtggg tgttatcaga ctctcaggct tgggagcccc tctggaaccc
     3061 agcagtttct gcagccttac aggctggcac tccttaaaca taggttccat tctaaacttt
     3121 aatttacatc cacatagtag gccacattac tcaatagcag ttccgagact tagaatattc
     3181 ttctccatgt tgagaggaaa ttcctattct atagatctca tttggtagaa tggggtacaa
     3241 aaaatttagg atttggattt agattagcac tgaagtccca ttttgcctct tattaacaaa
     3301 tagaccactg acatctaaat ttcattttca aattaggaaa tacgtacagg taataacata
     3361 tttgaaaact tctaccttac tcaaatttaa aatgcaaatt aacatatctt aatttgttac
     3421 taaacgaata ttgaagaata gagttaacaa tcaatatctg gctgggcgcg gtggctcacg
     3481 cctgtaatcc cagcactctg ggaggccgag gcgggtggat cacgaggtca ggagatcgag
     3541 accatcctgg ctaacacggt ggaacccagt ctctactaaa aatacaaaaa gttagccggg
     3601 catggtggtg ggcacctgta gtcccagcta ctcaggaggc tggggcagca gaatggcgtg
     3661 aacccaggag gtggagcttg cagtgagccg agatcgtgcc actgcactcc agcctgggca
     3721 acagagcaag actccttctc aaaaacaaaa aaaaagaaaa ataaataaat atctgtgctg
     3781 ttaagtatgt ggtaaaagag gtattttcac ataccagaat gaaaacataa tttaatttgc
     3841 cttttataaa aaacaaaata catcaaaaga cttgaaaata ttcatgctct gtgtctcaga
     3901 aatgccactt ctaaaaatct gtcctaaata aatgataaat taaaaattta ggatgtaagc
     3961 tgtttgtggc aaaatttttt tcctgtttgc tcacagttct aaatccatct cctaggtcag
     4021 tgatcaataa atatgtgttg aactatttaa taagtgaata ttataatttg tgttattgtt
     4081 cataatttta ag
//
LOCUS       NM_001004757            1096 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily Q member 1
            (OR51Q1), mRNA.
ACCESSION   NM_001004757
VERSION     NM_001004757.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1096)
  AUTHORS   Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd
            C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E,
            Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K,
            Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC,
            Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES and
            Sakaki Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136999.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000300778.4/ ENSP00000300778.4
            polymorphic pseudogene   :: based on alignments, homology
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC087380.3.
            On Jan 21, 2010 this sequence version replaced NM_001004757.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1096
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1096
                     /gene="OR51Q1"
                     /note="olfactory receptor family 51 subfamily Q member 1"
                     /db_xref="GeneID:390061"
                     /db_xref="HGNC:HGNC:14851"
     misc_feature    52..54
                     /gene="OR51Q1"
                     /note="upstream in-frame stop codon"
     CDS             91..1044
                     /gene="OR51Q1"
                     /codon_start=1
                     /product="olfactory receptor 51Q1"
                     /protein_id="NP_001004757.1"
                     /db_xref="CCDS:CCDS31381.1"
                     /db_xref="GeneID:390061"
                     /db_xref="HGNC:HGNC:14851"
                     /translation="MSQVTNTTQEGIYFILTDIPGFEASHIWISIPVCCLYTISIMGNT
                     TILTVIRTEPSVHQRMYLFLSMLALTDLGLTLTTLPTVMQLLWFNVRRISSEACFAQFF
                     FLHGFSFMESSVLLAMSVDCYVAICCPLHYASILTNEVIGRTGLAIICCCVLAVLPSLF
                     LLKRLPFCHSHLLSRSYCLHQDMIRLVCADIRLNSWYGFALALLIIIVDPLLIVISYTL
                     ILKNILGTATWAERLRALNNCLSHILAVLVLYIPMVGVSMTHRFAKHASPLVHVIMANI
                     YLLAPPVMNPIIYSVKNKQIQWGMLNFLSLKNMHSR"
     misc_feature    106..108
                     /gene="OR51Q1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH59.2); glycosylation site"
     misc_feature    172..234
                     /gene="OR51Q1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH59.2);
                     transmembrane region"
     misc_feature    259..321
                     /gene="OR51Q1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH59.2);
                     transmembrane region"
     misc_feature    394..456
                     /gene="OR51Q1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH59.2);
                     transmembrane region"
     misc_feature    514..576
                     /gene="OR51Q1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH59.2);
                     transmembrane region"
     misc_feature    685..747
                     /gene="OR51Q1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH59.2);
                     transmembrane region"
     misc_feature    808..870
                     /gene="OR51Q1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH59.2);
                     transmembrane region"
     misc_feature    916..978
                     /gene="OR51Q1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH59.2);
                     transmembrane region"
ORIGIN
        1 ttggattaaa tggggcaaag agatattatt tctaatgttt ctttttctcc ctgagtgaag
       61 atcctgaatc tgaagacaca ttcatcagtc atgtcccagg tgactaacac cacacaagaa
      121 ggcatctact tcatcctcac ggacatccct ggatttgagg cctcccacat ctggatctcc
      181 atccccgtct gctgtctcta caccatctcc atcatgggca ataccaccat cctcactgtc
      241 attcgcacag agccatctgt ccaccagcgc atgtatctgt ttctctccat gctggccctg
      301 acggacctgg gtctcaccct caccacccta cccacagtca tgcagcttct ctggttcaac
      361 gttcgtagaa tcagctctga ggcctgtttt gctcagtttt tcttccttca tggattctcc
      421 tttatggagt cttctgtcct cctggctatg tccgttgact gctatgtggc catctgctgt
      481 cccctccatt atgcctccat cctcaccaat gaagtcattg gtagaactgg gttagccatc
      541 atttgctgct gtgttctggc ggttcttccc tcccttttct tactcaagcg actgcctttc
      601 tgccactccc accttctctc tcgctcctat tgcctccacc aggatatgat ccgcctggtc
      661 tgtgctgaca tcaggctcaa cagctggtat ggatttgctc ttgccttgct cattattatc
      721 gtggatcctc tgctcattgt gatctcctat acacttattc tgaaaaatat cttgggcaca
      781 gccacctggg ctgagcgact ccgtgccctc aataactgcc tgtcccacat tctagctgtc
      841 ctggtcctct acattcccat ggttggtgta tctatgactc atcgctttgc caagcatgcc
      901 tctccactgg tccatgttat catggccaat atctacctgc tggcaccccc ggtgatgaac
      961 cccatcattt acagtgtaaa gaacaagcag atccaatggg gaatgttaaa tttcctttcc
     1021 ctcaaaaata tgcattcaag atgagggaat gcatttctta aattactgac aagtatgagt
     1081 cataggctta aggggg
//
LOCUS       NM_001004758             972 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily S member 1
            (OR51S1), mRNA.
ACCESSION   NM_001004758
VERSION     NM_001004758.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 972)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000322101.5/ ENSP00000322754.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065796.1.
            On Sep 19, 2004 this sequence version replaced XM_061624.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..972
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..972
                     /gene="OR51S1"
                     /gene_synonym="OR11-24"
                     /note="olfactory receptor family 51 subfamily S member 1"
                     /db_xref="GeneID:119692"
                     /db_xref="HGNC:HGNC:15204"
     CDS             1..972
                     /gene="OR51S1"
                     /gene_synonym="OR11-24"
                     /note="olfactory receptor OR11-24"
                     /codon_start=1
                     /product="olfactory receptor 51S1"
                     /protein_id="NP_001004758.1"
                     /db_xref="CCDS:CCDS31362.1"
                     /db_xref="GeneID:119692"
                     /db_xref="HGNC:HGNC:15204"
                     /translation="MSTLPTQIAPNSSTSMAPTFLLVGMPGLSGAPSWWTLPLIAVYLL
                     SALGNGTILWIIALQPALHRPMHFFLFLLSVSDIGLVTALMPTLLGIALAGAHTVPASA
                     CLLQMVFIHVFSVMESSVLLAMSIDRALAICRPLHYPALLTNGVISKISLAISFRCLGL
                     HLPLPFLLAYMPYCLPQVLTHSYCLHPDVARLACPEAWGAAYSLFVVLSAMGLDPLLIF
                     FSYGLIGKVLQGVESREDRWKAGQTCAAHLSAVLLFYIPMILLALINHPELPITQHTHT
                     LLSYVHFLLPPLINPILYSVKMKEIRKRILNRLQPRKVGGAQ"
     misc_feature    31..33
                     /gene="OR51S1"
                     /gene_synonym="OR11-24"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGJ8.1); glycosylation site"
     misc_feature    100..162
                     /gene="OR51S1"
                     /gene_synonym="OR11-24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ8.1);
                     transmembrane region"
     misc_feature    187..249
                     /gene="OR51S1"
                     /gene_synonym="OR11-24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ8.1);
                     transmembrane region"
     misc_feature    322..384
                     /gene="OR51S1"
                     /gene_synonym="OR11-24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ8.1);
                     transmembrane region"
     misc_feature    442..504
                     /gene="OR51S1"
                     /gene_synonym="OR11-24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ8.1);
                     transmembrane region"
     misc_feature    610..672
                     /gene="OR51S1"
                     /gene_synonym="OR11-24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ8.1);
                     transmembrane region"
     misc_feature    733..795
                     /gene="OR51S1"
                     /gene_synonym="OR11-24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ8.1);
                     transmembrane region"
     misc_feature    841..903
                     /gene="OR51S1"
                     /gene_synonym="OR11-24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ8.1);
                     transmembrane region"
ORIGIN
        1 atgtcaacat taccaactca gatagccccc aatagcagca cttcaatggc ccccaccttc
       61 ttgctggtgg gcatgccagg cctatcaggt gcaccctcct ggtggacatt gcccctcatt
      121 gctgtctacc ttctctctgc actgggaaat ggcaccatcc tctggatcat tgccctgcag
      181 cccgccctgc accgcccaat gcacttcttc ctcttcttgc ttagtgtgtc tgatattgga
      241 ttggtcactg ccctgatgcc cacactgctg ggcatcgccc ttgctggtgc tcacactgtc
      301 cctgcctcag cctgccttct acagatggtt tttatccatg tcttttctgt catggagtcc
      361 tctgtcttgc tcgccatgtc cattgatcgg gcactggcca tctgccgacc tctccactac
      421 ccagcgctcc tcaccaatgg tgtaattagc aaaatcagcc tggccatttc ttttcgatgc
      481 ctgggtctcc atctgcccct gccattcctg ctggcctaca tgccctactg cctcccacag
      541 gtcctaaccc attcttattg cttgcatcca gatgtggctc gtttggcctg cccagaagct
      601 tggggtgcag cctacagcct atttgtggtt ctttcagcca tgggtttgga ccccctgctt
      661 attttcttct cctatggcct gattggcaag gtgttgcaag gtgtggagtc cagagaggat
      721 cgctggaagg ctggtcaaac ctgtgctgcc cacctctctg cagtgctcct cttctatatc
      781 cctatgatcc tcctggcact gattaaccat cctgagctgc caatcactca gcatacccat
      841 actcttctat cctatgtcca tttccttctt cctccattga taaaccctat tctctatagt
      901 gtcaagatga aggagattag aaagagaata ctcaacaggt tgcagcccag gaaggtgggt
      961 ggtgctcagt ga
//
LOCUS       NM_001004759             984 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily T member 1
            (OR51T1), mRNA.
ACCESSION   NM_001004759
VERSION     NM_001004759.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 984)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000322049.1/ ENSP00000322679.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011711.8.
            On Nov 19, 2020 this sequence version replaced NM_001004759.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The genomic coordinates were based on alignments.
FEATURES             Location/Qualifiers
     source          1..984
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..984
                     /gene="OR51T1"
                     /gene_synonym="OR11-26"
                     /note="olfactory receptor family 51 subfamily T member 1"
                     /db_xref="GeneID:401665"
                     /db_xref="HGNC:HGNC:15205"
     CDS             1..984
                     /gene="OR51T1"
                     /gene_synonym="OR11-26"
                     /note="olfactory receptor OR11-26"
                     /codon_start=1
                     /product="olfactory receptor 51T1"
                     /protein_id="NP_001004759.2"
                     /db_xref="CCDS:CCDS31363.2"
                     /db_xref="GeneID:401665"
                     /db_xref="HGNC:HGNC:15205"
                     /translation="MAIFNNTTSSSSNFLLTAFPGLECAHVWISIPVCCLYTIALLGNS
                     MIFLVIITKRRLHKPMYYFLSMLAAVDLCLTITTLPTVLGVLWFHAREISFKACFIQMF
                     FVHAFSLLESSVLVAMAFDRFVAICNPLNYATILTDRMVLVIGLVICIRPAVFLLPLLV
                     AINTVSFHGGHELSHPFCYHPEVIKYTYSKPWISSFWGLFLQLYLNGTDVLFILFSYVL
                     ILRTVLGIVARKKQQKALSTCVCHICAVTIFYVPLISLSLAHRLFHSTPRVLCSTLANI
                     YLLLPPVLNPIIYSLKTKTIRQAMFQLLQSKGSWGFNVRGLRGRWD"
     misc_feature    13..15
                     /gene="OR51T1"
                     /gene_synonym="OR11-26"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGJ9.1); glycosylation site"
     misc_feature    16..18
                     /gene="OR51T1"
                     /gene_synonym="OR11-26"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGJ9.1); glycosylation site"
     misc_feature    82..144
                     /gene="OR51T1"
                     /gene_synonym="OR11-26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ9.1);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR51T1"
                     /gene_synonym="OR11-26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ9.1);
                     transmembrane region"
     misc_feature    304..366
                     /gene="OR51T1"
                     /gene_synonym="OR11-26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ9.1);
                     transmembrane region"
     misc_feature    424..486
                     /gene="OR51T1"
                     /gene_synonym="OR11-26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ9.1);
                     transmembrane region"
     misc_feature    595..657
                     /gene="OR51T1"
                     /gene_synonym="OR11-26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ9.1);
                     transmembrane region"
     misc_feature    718..780
                     /gene="OR51T1"
                     /gene_synonym="OR11-26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ9.1);
                     transmembrane region"
     misc_feature    826..888
                     /gene="OR51T1"
                     /gene_synonym="OR11-26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ9.1);
                     transmembrane region"
ORIGIN
        1 atggcaatat tcaataacac cacttcgtct tcctcaaact tcctcctcac tgcattccct
       61 gggctggaat gtgctcatgt ctggatctcc attccagtct gctgtctcta caccattgcc
      121 ctcttgggaa acagtatgat ctttcttgtc atcattacta agcggagact ccacaaaccc
      181 atgtattatt tcctctccat gctggcagct gttgatctat gtctgaccat tacgaccctt
      241 cccactgtgc ttggtgttct ctggtttcat gcccgggaga tcagctttaa agcttgcttc
      301 attcaaatgt tctttgtgca tgctttctcc ttgctggagt cctcggtgct ggtagccatg
      361 gcctttgacc gcttcgtggc tatctgtaac ccactgaact atgctactat cctcacagac
      421 aggatggtcc tggtgatagg gctggtcatc tgcattagac cagcagtttt cttacttccc
      481 cttcttgtag ccataaacac tgtgtctttt catgggggtc acgagctttc ccatccattt
      541 tgctaccacc cagaagtgat caaatacaca tattccaaac cttggatcag cagtttttgg
      601 ggactgtttc ttcagctcta cctgaatggc actgacgtat tgtttattct tttctcctat
      661 gtcctgatcc tccgtactgt tctgggcatt gtggcccgaa agaagcaaca aaaagctctc
      721 agcacttgtg tctgtcacat ctgtgcagtc actattttct atgtgccact gatcagcctc
      781 tctttggcac accgcctctt ccactccacc ccaagggtgc tctgtagcac tttggccaat
      841 atttatctgc tcttaccacc tgtgctgaac cctatcattt acagcttgaa gaccaagaca
      901 atccgccagg ctatgttcca gctgctccaa tccaagggtt catggggttt taatgtgagg
      961 ggtcttaggg gaagatggga ttga
//
LOCUS       NM_001004760             948 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily V member 1
            (OR51V1), mRNA.
ACCESSION   NM_001004760
VERSION     NM_001004760.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 948)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 948)
  AUTHORS   Bulger M, Bender MA, van Doorninck JH, Wertman B, Farrell CM,
            Felsenfeld G, Groudine M and Hardison R.
  TITLE     Comparative structural and functional analysis of the olfactory
            receptor genes flanking the human and mouse beta-globin gene
            clusters
  JOURNAL   Proc Natl Acad Sci U S A 97 (26), 14560-14565 (2000)
   PUBMED   11121057
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641270.1/ ENSP00000492968.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104389.8.
            On Feb 23, 2021 this sequence version replaced NM_001004760.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..948
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..948
                     /gene="OR51V1"
                     /gene_synonym="OR11-36; OR51A12"
                     /note="olfactory receptor family 51 subfamily V member 1"
                     /db_xref="GeneID:283111"
                     /db_xref="HGNC:HGNC:19597"
     CDS             1..948
                     /gene="OR51V1"
                     /gene_synonym="OR11-36; OR51A12"
                     /note="olfactory receptor OR11-36; odorant receptor
                     HOR3'beta1; olfactory receptor 51A12"
                     /codon_start=1
                     /product="olfactory receptor 51V1"
                     /protein_id="NP_001004760.3"
                     /db_xref="CCDS:CCDS31375.2"
                     /db_xref="GeneID:283111"
                     /db_xref="HGNC:HGNC:19597"
                     /translation="MITSVSPSTSTNSSFLLTGFSGMEQQYPWLSIPFSSIYAMVLLGN
                     CMVLHVIWTEPSLHQPMFYFLSMLALTDLCMGLSTVYTVLGILWGIIREISLDSCIAQS
                     YFIHGLSFMESSVLLTMAFDRYIAICNPLRYSSILTNSRIIKIGLTIIGRSFFFITPPI
                     ICLKFFNYCHFHILSHSFCLHQDLLRLACSDIRFNSYYALMLVICILLLDAILILFSYI
                     LILKSVLAVASQEERHKLFQTCISHICAVLVFYIPIISLTMVHRFGKHLSPVAHVLIGN
                     IYILFPPLMNPIIYSVKTQQIHTRMLRLFSLKRY"
ORIGIN
        1 atgattactt cagtaagccc tagcaccagc acgaattctt cctttcttct cactggattt
       61 tctggcatgg agcagcaata cccctggctt tccatcccct tctcctcaat ctatgccatg
      121 gtgcttttgg gcaattgcat ggttctccat gtgatatgga ctgagccaag cctgcaccag
      181 cctatgtttt acttcctgtc catgctggcc ctcactgacc tgtgcatggg gctgtccact
      241 gtgtacacag tgctggggat cctgtggggg atcattcgag agatcagctt ggattcctgc
      301 attgcccagt cctatttcat ccatggtctg tccttcatgg agtcctctgt cctcctcact
      361 atggcctttg accggtacat tgcaatttgc aatccactac gttattcctc catcctgact
      421 aattccagaa ttatcaaaat tgggctcact ataataggta ggagtttttt ctttattaca
      481 ccccccatca tctgtctgaa attttttaat tactgtcatt tccacatcct ttctcactct
      541 ttctgcctgc accaggatct tctccgctta gcctgttcag acatccgatt caatagttac
      601 tatgccctga tgctggttat ttgcatactg ttgttggatg ctatactcat ccttttctcc
      661 tacatcctga ttcttaagtc agtcctggca gttgcctctc aggaagagag gcataaatta
      721 tttcagacct gcatctccca catctgtgct gtccttgtgt tctacatccc tatcattagc
      781 ctcacaatgg tgcaccgttt tggcaagcac ctttcccccg tggcccacgt tctcattggc
      841 aacatctaca tccttttccc acctttaatg aatcccatca tctacagtgt caagacccaa
      901 cagattcata ccagaatgct tagactcttt tctctgaaaa gatattga
//
LOCUS       NM_001005               2059 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S3 (RPS3), transcript variant 1,
            mRNA.
ACCESSION   NM_001005
VERSION     NM_001005.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2059)
  AUTHORS   Havkin-Solomon T, Itzhaki E, Joffe N, Reuven N, Shaul Y and Dikstein
            R.
  TITLE     Selective translational control of cellular and viral mRNAs by RPS3
            mRNA binding
  JOURNAL   Nucleic Acids Res 51 (9), 4208-4222 (2023)
   PUBMED   37070189
  REMARK    GeneRIF: Selective translational control of cellular and viral mRNAs
            by RPS3 mRNA binding.
REFERENCE   2  (bases 1 to 2059)
  AUTHORS   Ochkasova A, Arbuzov G, Kabilov M, Tupikin A, Karpova G and Graifer
            D.
  TITLE     AP lyase activity of the human ribosomal protein uS3: The DNA
            cleavage sequence specificity and the location of the enzyme active
            center
  JOURNAL   Biochim Biophys Acta Proteins Proteom 1871 (2), 140880 (2023)
   PUBMED   36396097
  REMARK    GeneRIF: AP lyase activity of the human ribosomal protein uS3: The
            DNA cleavage sequence specificity and the location of the enzyme
            active center.
REFERENCE   3  (bases 1 to 2059)
  AUTHORS   Wang T, Jin C, Yang P, Chen Z, Ji J, Sun Q, Yang S, Feng Y, Tang J
            and Sun Y.
  TITLE     UBE2J1 inhibits colorectal cancer progression by promoting
            ubiquitination and degradation of RPS3
  JOURNAL   Oncogene 42 (9), 651-664 (2023)
   PUBMED   36567344
  REMARK    GeneRIF: UBE2J1 inhibits colorectal cancer progression by promoting
            ubiquitination and degradation of RPS3.
REFERENCE   4  (bases 1 to 2059)
  AUTHORS   Shi J, Zhang T, Yang ZG, Chen FL and Zhang WS.
  TITLE     RPS3 predicts poor overall survival in HBV-related hepatocellular
            carcinoma patients: a data-mining with LASSO-regression algorithm
  JOURNAL   Eur Rev Med Pharmacol Sci 26 (18), 6742-6753 (2022)
   PUBMED   36196722
  REMARK    GeneRIF: RPS3 predicts poor overall survival in HBV-related
            hepatocellular carcinoma patients: a data-mining with
            LASSO-regression algorithm.
REFERENCE   5  (bases 1 to 2059)
  AUTHORS   Jirapongwattana N, Thongchot S, Chiraphapphaiboon W, Chieochansin T,
            Sa-Nguanraksa D, Warnnissorn M, Thuwajit P, Yenchitsomanus PT and
            Thuwajit C.
  TITLE     Mesothelin-specific T cell cytotoxicity against triple negative
            breast cancer is enhanced by 40s ribosomal protein subunit 3-treated
            self-differentiated dendritic cells
  JOURNAL   Oncol Rep 48 (1) (2022)
   PUBMED   35616135
  REMARK    GeneRIF: Mesothelinspecific T cell cytotoxicity against triple
            negative breast cancer is enhanced by 40s ribosomal protein subunit
            3treated selfdifferentiated dendritic cells.
REFERENCE   6  (bases 1 to 2059)
  AUTHORS   Kim J, Chubatsu LS, Admon A, Stahl J, Fellous R and Linn S.
  TITLE     Implication of mammalian ribosomal protein S3 in the processing of
            DNA damage
  JOURNAL   J Biol Chem 270 (23), 13620-13629 (1995)
   PUBMED   7775413
REFERENCE   7  (bases 1 to 2059)
  AUTHORS   Polakiewicz RD, Munroe DJ, Sait SN, Tycowski KT, Nowak NJ, Shows TB,
            Housman DE and Page DC.
  TITLE     Mapping of ribosomal protein S3 and internally nested snoRNA U15A
            gene to human chromosome 11q13.3-q13.5
  JOURNAL   Genomics 25 (2), 577-580 (1995)
   PUBMED   7789996
REFERENCE   8  (bases 1 to 2059)
  AUTHORS   Pogue-Geile K, Geiser JR, Shu M, Miller C, Wool IG, Meisler AI and
            Pipas JM.
  TITLE     Ribosomal protein genes are overexpressed in colorectal cancer:
            isolation of a cDNA clone encoding the human S3 ribosomal protein
  JOURNAL   Mol Cell Biol 11 (8), 3842-3849 (1991)
   PUBMED   1712897
REFERENCE   9  (bases 1 to 2059)
  AUTHORS   Bommer UA, Lutsch G, Stahl J and Bielka H.
  TITLE     Eukaryotic initiation factors eIF-2 and eIF-3: interactions,
            structure and localization in ribosomal initiation complexes
  JOURNAL   Biochimie 73 (7-8), 1007-1019 (1991)
   PUBMED   1742346
  REMARK    Review article
REFERENCE   10  (bases 1 to 2059)
  AUTHORS   Zhang XT, Tan YM and Tan YH.
  TITLE     Isolation of a cDNA encoding human 40S ribosomal protein s3
  JOURNAL   Nucleic Acids Res 18 (22), 6689 (1990)
   PUBMED   2129557
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC034149.1, SRR1660803.48040.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000531188.6/ ENSP00000434643.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BC034149.1, AP000744.4 and CB241053.1.
            On Nov 22, 2018 this sequence version replaced NM_001005.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit, where it forms part
            of the domain where translation is initiated. The protein belongs
            to the S3P family of ribosomal proteins. Studies of the mouse and
            rat proteins have demonstrated that the protein has an
            extraribosomal role as an endonuclease involved in the repair of
            UV-induced DNA damage. The protein appears to be located in both
            the cytoplasm and nucleus but not in the nucleolus. Higher levels
            of expression of this gene in colon adenocarcinomas and adenomatous
            polyps compared to adjacent normal colonic mucosa have been
            observed. This gene is co-transcribed with the small nucleolar RNA
            genes U15A and U15B, which are located in its first and fifth
            introns, respectively. As is typical for genes encoding ribosomal
            proteins, there are multiple processed pseudogenes of this gene
            dispersed through the genome. Multiple alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, May 2012].
            Transcript Variant: This variant (1) and variant 2 both encode the
            same protein (isoform 1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2059
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..2059
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="ribosomal protein S3"
                     /db_xref="GeneID:6188"
                     /db_xref="HGNC:HGNC:10420"
                     /db_xref="MIM:600454"
     CDS             31..762
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /EC_number="4.2.99.18"
                     /note="isoform 1 is encoded by transcript variant 1; IMR-90
                     ribosomal protein S3; 40S ribosomal protein S3; small
                     ribosomal subunit protein uS3"
                     /codon_start=1
                     /product="small ribosomal subunit protein uS3 isoform 1"
                     /protein_id="NP_000996.2"
                     /db_xref="CCDS:CCDS8236.1"
                     /db_xref="GeneID:6188"
                     /db_xref="HGNC:HGNC:10420"
                     /db_xref="MIM:600454"
                     /translation="MAVQISKKRKFVADGIFKAELNEFLTRELAEDGYSGVEVRVTPTR
                     TEIIILATRTQNVLGEKGRRIRELTAVVQKRFGFPEGSVELYAEKVATRGLCAIAQAES
                     LRYKLLGGLAVRRACYGVLRFIMESGAKGCEVVVSGKLRGQRAKSMKFVDGLMIHSGDP
                     VNYYVDTAVRHVLLRQGVLGIKVKIMLPWDPTGKIGPKKPLPDHVSIVEPKDEILPTTP
                     ISEQKGGKPEPPAMPQPVPTA"
     misc_feature    34..36
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.10,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22814378,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P23396.2); acetylation site"
     misc_feature    46..48
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="Phosphoserine, by PKC/PRKCD.
                     /evidence=ECO:0000269|PubMed:19059439; propagated from
                     UniProtKB/Swiss-Prot (P23396.2); phosphorylation site"
     misc_feature    133..135
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23396.2); phosphorylation site"
     misc_feature    154..156
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="Phosphothreonine, by MAPK.
                     /evidence=ECO:0000269|PubMed:15950189; propagated from
                     UniProtKB/Swiss-Prot (P23396.2); phosphorylation site"
     misc_feature    214..216
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P23396.2); acetylation site"
     misc_feature    220..222
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="Asymmetric dimethylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:19460357; propagated from
                     UniProtKB/Swiss-Prot (P23396.2); methylation site"
     misc_feature    223..225
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="Asymmetric dimethylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:19460357; propagated from
                     UniProtKB/Swiss-Prot (P23396.2); methylation site"
     misc_feature    229..231
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="Asymmetric dimethylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:19460357; propagated from
                     UniProtKB/Swiss-Prot (P23396.2); methylation site"
     misc_feature    238..240
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="Phosphothreonine, by PKB.
                     /evidence=ECO:0000269|PubMed:20605787; propagated from
                     UniProtKB/Swiss-Prot (P23396.2); phosphorylation site"
     misc_feature    340..342
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23396.2); phosphorylation site"
     misc_feature    655..657
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="Phosphoserine, by IKKB.
                     /evidence=ECO:0000269|PubMed:21399639; propagated from
                     UniProtKB/Swiss-Prot (P23396.2); phosphorylation site"
     misc_feature    670..759
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="propagated from UniProtKB/Swiss-Prot (P23396.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    688..690
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23396.2); phosphorylation site"
     misc_feature    691..693
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="Phosphothreonine, by CDK1 and PKC/PRKCD.
                     /evidence=ECO:0000269|PubMed:19059439,
                     ECO:0000269|PubMed:21871177, ECO:0000269|Ref.12,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P23396.2); phosphorylation site"
     misc_feature    700..702
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16807684; propagated from
                     UniProtKB/Swiss-Prot (P23396.2); phosphorylation site"
     misc_feature    754..756
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P23396.2); phosphorylation site"
     regulatory      820..825
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="hexamer: AATAAA"
     polyA_site      841
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="major polyA site"
     regulatory      1131..1136
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="hexamer: TATAAA"
     regulatory      1142..1147
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="hexamer: ATTATA"
     polyA_site      1157
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
     polyA_site      1170
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
     regulatory      1277..1282
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="hexamer: TATAAA"
     polyA_site      1299
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
     regulatory      2032..2037
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
                     /note="hexamer: ATTAAA"
     polyA_site      2059
                     /gene="RPS3"
                     /gene_synonym="S3; uS3"
ORIGIN
        1 cctttccttt cagcggagcg cggcggcaag atggcagtgc aaatatccaa gaagaggaag
       61 tttgtcgctg atggcatctt caaagctgaa ctgaatgagt ttcttactcg ggagctggct
      121 gaagatggct actctggagt tgaggtgcga gttacaccaa ccaggacaga aatcattatc
      181 ttagccacca gaacacagaa tgttcttggt gagaagggcc ggcggattcg ggaactgact
      241 gctgtagttc agaagaggtt tggctttcca gagggcagtg tagagcttta tgctgaaaag
      301 gtggccacta gaggtctgtg tgccattgcc caggcagagt ctctgcgtta caaactccta
      361 ggagggcttg ctgtgcggag ggcctgctat ggtgtgctgc ggttcatcat ggagagtggg
      421 gccaaaggct gcgaggttgt ggtgtctggg aaactccgag gacagagggc taaatccatg
      481 aagtttgtgg atggcctgat gatccacagc ggagaccctg ttaactacta cgttgacact
      541 gctgtgcgcc acgtgttgct cagacagggt gtgctgggca tcaaggtgaa gatcatgctg
      601 ccctgggacc caactggtaa gattggccct aagaagcccc tgcctgacca cgtgagcatt
      661 gtggaaccca aagatgagat actgcccacc acccccatct cagaacagaa gggtgggaag
      721 ccagagccgc ctgccatgcc ccagccagtc cccacagcat aacagggtct ccttggcagc
      781 tgtattctgg agtctggatg ttgctctcta aagaccttta ataaaatttt gtacaaagac
      841 acaaggtctg actagactgt tcagtattca gactgagggg catgttggcc tctggagcat
      901 tacatatctt cttggtttta accatacttg tggtatttgc aagggccaga acagtaagac
      961 ccaagcagag ccaaccagag aaataatatt tgtgtgatag agaaggctga tagcaagcaa
     1021 ggcagcacct tgattcgttg tcctgtagtt caggattgta ggtttagaag agggatatgt
     1081 ttgagttttt cctatgcata aggcgatcca cgttgcacat agaaagtgaa tataaatggc
     1141 cattatattt tgtgtcatgc tgtgctctaa gtgttcttta catatgtact cgttaatcaa
     1201 cctctctaaa gtgtaaagga aatttgcttg caccactgaa ggcacataag gctcagaagt
     1261 aaatttgcct aagcagtata aagctatcat tagaatccac attcctaagt tgtgttctct
     1321 taggggatca tggaaccagt cattggtact acaggctatt atgttctgga gaactgtgaa
     1381 gaacatttaa attgtctctg attttatcta tcaatgtttt gaagtatttt ctaccagtgt
     1441 ctgtacttca caagaaattc ggcactattt tttcaggcaa aactagtgag ggacaggttg
     1501 gcttgaaaat catgagactg ttgttaaatc agatgctggt tgatcacaga ggggacttcc
     1561 agggaaagct gttatcaggt ggctgcttcc tggtgatgca gcctggctga tgagataacc
     1621 ctggctccac agatggctta gcaggtgctg tgatgatttg gttttcttct caattagact
     1681 gagctgcaca tggtgtttat attgcttggc acatggtaag ggcttaatat ttgaggtaat
     1741 tatgtagggc gtacactgac aagtatctga cccccccttc ctttttgact cataaattgg
     1801 tcatcttaac catttaagtg tacacttcta tagtgacaga gttagccctc tgtccaaggg
     1861 atttgcatct gtggattcaa ccaactttgg gtcaaaaata atcaaaaagg atggttgtgt
     1921 gtgtattgaa catgtagact tatttttctt attttcaaaa tactatattt tcttgtcact
     1981 tattttcttg tacactgcag ttgtaacagc tatgtagcat gtacattagg tattaaaagt
     2041 aatccagtga agattgaaa
//
LOCUS       NM_001005160            3973 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily A member 5
            (OR52A5), mRNA.
ACCESSION   NM_001005160
VERSION     NM_001005160.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3973)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 3973)
  AUTHORS   Bulger M, Bender MA, van Doorninck JH, Wertman B, Farrell CM,
            Felsenfeld G, Groudine M and Hardison R.
  TITLE     Comparative structural and functional analysis of the olfactory
            receptor genes flanking the human and mouse beta-globin gene
            clusters
  JOURNAL   Proc Natl Acad Sci U S A 97 (26), 14560-14565 (2000)
   PUBMED   11121057
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307388.2/ ENSP00000303469.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC129505.8.
            On Jul 27, 2020 this sequence version replaced NM_001005160.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..3973
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..3973
                     /gene="OR52A5"
                     /gene_synonym="OR11-33"
                     /note="olfactory receptor family 52 subfamily A member 5"
                     /db_xref="GeneID:390054"
                     /db_xref="HGNC:HGNC:19580"
     CDS             107..1057
                     /gene="OR52A5"
                     /gene_synonym="OR11-33"
                     /note="olfactory receptor OR11-33; odorant receptor
                     HOR3'beta5"
                     /codon_start=1
                     /product="olfactory receptor 52A5"
                     /protein_id="NP_001005160.1"
                     /db_xref="CCDS:CCDS31373.1"
                     /db_xref="GeneID:390054"
                     /db_xref="HGNC:HGNC:19580"
                     /translation="MPTFNGSVFMPSAFILIGIPGLESVQCWIGIPFSAMYLIGVIGNS
                     LILVIIKYENSLHIPMYIFLAMLAATDIALNTCILPKMLGIFWFHLPEISFDACLFQMW
                     LIHSFQAIESGILLAMALDRYVAICIPLRHATIFSQQFLTHIGLGVTLRAAILIIPSLG
                     LIKCCLKHYRTTVISHSYCEHMAIVKLATEDIRVNKIYGLFVAFAILGFDIIFITLSYV
                     QIFITVFQLPQKEARFKAFNTCIAHICVFLQFYLLAFFSFFTHRFGSHIPPYIHILLSN
                     LYLLVPPFLNPIVYGVKTKQIRDHIVKVFFFKKVT"
     misc_feature    119..121
                     /gene="OR52A5"
                     /gene_synonym="OR11-33"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9H2C5.1); glycosylation site"
     misc_feature    188..250
                     /gene="OR52A5"
                     /gene_synonym="OR11-33"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2C5.1);
                     transmembrane region"
     misc_feature    275..337
                     /gene="OR52A5"
                     /gene_synonym="OR11-33"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2C5.1);
                     transmembrane region"
     misc_feature    410..472
                     /gene="OR52A5"
                     /gene_synonym="OR11-33"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2C5.1);
                     transmembrane region"
     misc_feature    530..592
                     /gene="OR52A5"
                     /gene_synonym="OR11-33"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2C5.1);
                     transmembrane region"
     misc_feature    704..766
                     /gene="OR52A5"
                     /gene_synonym="OR11-33"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2C5.1);
                     transmembrane region"
     misc_feature    827..889
                     /gene="OR52A5"
                     /gene_synonym="OR11-33"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2C5.1);
                     transmembrane region"
     misc_feature    935..997
                     /gene="OR52A5"
                     /gene_synonym="OR11-33"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2C5.1);
                     transmembrane region"
ORIGIN
        1 gagttctcct ctatggcttc tacttataag tccattgata tccctggctc aacagagaat
       61 agaagatgaa acagcaaatc taccacttga ttctgatgaa caaatcatgc cgacattcaa
      121 tggctcagtc ttcatgccct ctgcgtttat actaattggg attcctggtc tggagtcagt
      181 gcagtgttgg attgggattc ctttctctgc catgtatctt attggtgtga ttggaaattc
      241 cctaatttta gttataatca aatatgaaaa cagcctccat atacccatgt acattttttt
      301 ggccatgttg gcagccacag acattgcact taacacctgc attcttccca aaatgttagg
      361 catcttctgg tttcatttgc cagagatttc ttttgatgcc tgtctttttc aaatgtggct
      421 tattcactca ttccaggcaa ttgaatcggg tatccttctg gcaatggccc tggatcgcta
      481 tgtggccatc tgtatcccct tgagacatgc caccatcttt tcccagcagt tcttaactca
      541 tattggactt ggggtgacac tcagggctgc cattcttata ataccttcct tagggctcat
      601 caaatgctgt ctgaaacact atcgaactac agtcatctct cactcttact gtgagcacat
      661 ggccatcgtg aagctggcta ctgaagatat ccgagtcaac aagatatatg gcctatttgt
      721 tgcctttgca atcctagggt ttgacataat atttataacc ttgtcctatg tccaaatttt
      781 tatcactgtc tttcagctgc cccagaagga ggcacgattc aaggccttta atacatgcat
      841 tgcccacatt tgtgtcttcc tacagttcta ccttcttgcc ttcttctctt tcttcacaca
      901 caggtttggt tcacacatac caccatatat tcatatcctc ttgtcaaatc tttacctgtt
      961 agtcccacct tttctcaacc ctattgtcta tggagtgaag accaagcaaa ttcgtgacca
     1021 tattgtgaaa gtgtttttct tcaaaaaagt aacttgatcg ttagtgactc ctatagagat
     1081 ttagggttgg ttctaagtaa aaacctaaat ataatgaaag tcacagatca atattctcaa
     1141 actactagct caacacatac ctgtaattct agctatgtct cactttttag tatttgcttt
     1201 gaatctatat tttgataaat ttggaatcat ttatctgtgt cttatttact ttatctgaaa
     1261 tacttatcaa tataaaaata atatgaaatc agtaataccg atatctacaa cataaaactt
     1321 atgtaatgca accaatgact ataaacacta aggaatttac acaggagaga atgcaaaaaa
     1381 aattgaaaaa tattaaacat attcacaaat atcattttca ggaaaataaa atcagtgatc
     1441 tgggcttaca tatcaaatat ccttctagaa ccacacaatt ttattgattt ttacctaact
     1501 tgagttttac tcaaatttgg aagtttaagt tctaaaattg aacatacaaa ttctgttacc
     1561 cactgaaagc atcttgagta cagaaactat cttatttacc ctttatcagg aaaacagtgg
     1621 acaatgcctg agaattctta gaatctaagt aaaaatgaca ttgaataatg aacagagtaa
     1681 acattttctt tgtgtcaatt aatggtattc aaaagccaca aatttggagg ctctaagtaa
     1741 tatgcaatct taccatacag aaaaccatgc tagagatttt attccaatat tatcagggta
     1801 aaagaaaggt gaagacttga aataatcatt atgcaaacct gaaataatat attagctaaa
     1861 cacagaactg gcatataaga aaccacctcc tgaataagga ctttagtcaa gacttagaac
     1921 caaacaaatt tttttttcct taagaatcaa gttgacagag tcatctgaat cactaatttt
     1981 gaaaagatgc atggtcaaag aaagaaataa tatggtaaaa cgttctgatg taaaaaatca
     2041 tatcattcaa gaggcagaca tagatacata caattttggg gaaaaatctt gtcaataatg
     2101 tagaaatgac tttgagtcat aattttttta ataaagttta tgtaaacatt atatttagaa
     2161 agaatcaaaa atacatgaca aaagataaaa caacatgtta gttgataggc agacatatta
     2221 aaaattgttg aattagataa gcaaaactta ataatgaaat aaccatttta attctggatt
     2281 agagcattaa atatttcagt ggttgtgcca ttaataacgc agaatgaata attaatgagg
     2341 agtcattctc ccaaaagaaa aaaaaatcat aaatatatga attctttcag aaaagttagt
     2401 atacatgaag gataaagaat gaagataata agtaagtgat actcctaaat aagaaaccaa
     2461 aacaaacaat atgatgataa ctacagatta atcatgagtg aatgaaaaaa ctgtatttca
     2521 aagtatctgg tataaaaatg caccaaatta tataaatgaa aatagacaaa acacccatat
     2581 tggaaaaaaa tcaacagaaa ataaaaattt caacataggt ctatcagaaa aaaacacatt
     2641 acatatccta aaagacatat ttttttttca ttctctggag tatgagggaa gacaaacaac
     2701 aaagatctta aaaatgcaca ttatctaatg gaaaaaaatt aaatgaaaaa tttgtgtcat
     2761 aattagactg tgggttggca tttcaagcca tttaaacctg taattaataa aaagaacaat
     2821 tacagtgcat aataatatta ctagtttctg aaacaatgtt gtccctgtcc agtgttctct
     2881 gctaaagaaa ccccagctga agcaatttcc acatggagta cagcacctgg tccagctgat
     2941 ttcagctagg tcccagtcag cacacagatc tgtttgactt cttggttgct ttttggtctt
     3001 ctttacaggt caaatttgtt ccatgctgaa gatctgggtt catattacct ttttttaagg
     3061 tataaaaaaa gacctggcct caaaatgagg ttgtacacgt agtttctgag agtctgctcc
     3121 attgctcttc aattgagggc tctggctaat tggatgcaga atccgagata aaggacagcc
     3181 acctacagca gctagagggc tgagatatga gtcagactga tatgccctga ctatgatgca
     3241 atgaacatct taaaaagaga aatttattcc aagaataaat tgtttgaggg ctcgaaggga
     3301 ttgccttaag ttaaagatgg ataaataggt atcctagcta ggaatcaaaa aggtctgagt
     3361 ttctccatta cccttccttt aacattctac atactcctgg gcatgttatt tcctcttctc
     3421 tacaatgggg ctaacaatac gagcctcaga gacttgtgag gaatatgtga gaaaaggctc
     3481 accaagcatg tagcacagat ccaggctaaa acacacctta aacatgtagg ccaaggtgta
     3541 catactctga gaattaagat gcagagaaaa atgatttcag gattaagtgc aaagagacgg
     3601 aaatgaatgg agcagagtgc cgggatagct gtgtggctga tgatcctcta gctggagcta
     3661 ggtcagtgtc tttgggcaga gctgtgtgta acattctcag aagcatgctg agacaacaga
     3721 ataccttggt gatctttatt caattgttta tttttactga gatggaattc acatgccata
     3781 atatttgcaa ttttaaagta tgcaatttga tgatttttag tgtattataa aggctgtgca
     3841 accatcatca ctacctaatt gaaaatactt tcgtcatcct aaaaaaaaat ctatatacat
     3901 tagtagtcac atcccattac ttctgctccc cccatctcca gtcttagcaa ctgctaatct
     3961 cttttctgtt tca
//
LOCUS       NM_001005161            1124 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily B member 4
            (OR52B4), transcript variant 1, coding, mRNA.
ACCESSION   NM_001005161
VERSION     NM_001005161.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1124)
  AUTHORS   Riaz M, Lores-Motta L, Richardson AJ, Lu Y, Montgomery G, Omar A,
            Koenekoop RK, Chen J, Muether P, Altay L, Schick T, Fauser S,
            Smailhodzic D, van Asten F, de Jong EK, Hoyng CB, Burdon KP,
            MacGregor S, Guymer RH, den Hollander AI and Baird PN.
  TITLE     GWAS study using DNA pooling strategy identifies association of
            variant rs4910623 in OR52B4 gene with anti-VEGF treatment response
            in age-related macular degeneration
  JOURNAL   Sci Rep 6, 37924 (2016)
   PUBMED   27892514
  REMARK    GeneRIF: The association of variant rs4910623 in OR52B4 gene with
            anti-VEGF treatment response in age-related macular degeneration.
            OR52B4 single nucleotide polynorphism rs4910623 allele frequency in
            age-related macular degeneration patients. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 1124)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1124)
  AUTHORS   Swaminathan S, Huentelman MJ, Corneveaux JJ, Myers AJ, Faber KM,
            Foroud T, Mayeux R, Shen L, Kim S, Turk M, Hardy J, Reiman EM and
            Saykin AJ.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative and NIA-LOAD/NCRAD
            Family Study Group
  TITLE     Analysis of copy number variation in Alzheimer's disease in a cohort
            of clinically characterized and neuropathologically verified
            individuals
  JOURNAL   PLoS One 7 (12), e50640 (2012)
   PUBMED   23227193
REFERENCE   4  (bases 1 to 1124)
  AUTHORS   Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M and
            Tokunaga K.
  TITLE     An approach based on a genome-wide association study reveals
            candidate loci for narcolepsy
  JOURNAL   Hum Genet 128 (4), 433-441 (2010)
   PUBMED   20677014
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 1124)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1124)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC140928.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000624801.3/ ENSP00000485530.1
            polymorphic pseudogene   :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009758.8.
            On Jan 20, 2010 this sequence version replaced NM_001005161.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Transcript Variant: This variant (1, coding) represents the
            protein-coding allele encoded by the GRCh38 reference genome.
FEATURES             Location/Qualifiers
     source          1..1124
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1124
                     /gene="OR52B4"
                     /gene_synonym="OR11-3"
                     /note="olfactory receptor family 52 subfamily B member 4"
                     /db_xref="GeneID:143496"
                     /db_xref="HGNC:HGNC:15209"
     misc_feature    74..76
                     /gene="OR52B4"
                     /gene_synonym="OR11-3"
                     /note="upstream in-frame stop codon"
     CDS             92..1036
                     /gene="OR52B4"
                     /gene_synonym="OR11-3"
                     /note="olfactory receptor OR11-3"
                     /codon_start=1
                     /product="olfactory receptor 52B4"
                     /protein_id="NP_001005161.2"
                     /db_xref="GeneID:143496"
                     /db_xref="HGNC:HGNC:15209"
                     /translation="MPTVNHSGTSHTVFHLLGIPGLQDQHMWISIPFFISYVTALLGNS
                     LLIFIILTKRSLHEPMYLFLCMLAGADIVLSTCTIPQALAIFWFRAGDISLDRCITQLF
                     FIHSTFISESGILLVMAFDHYIAICYPLRYTTILTNALIKKICVTVSLRSYGTIFPIIF
                     LLKRLTFCQNNIIPHTFCEHIGLAKYACNDIRINIWYGFSILMSTVVLDVVLIFISYML
                     ILHAVFHMPSPDACHKALNTFGSHVCIIILFYGSGIFTILTQRFGRHIPPCIHIPLANV
                     CILAPPMLNPIIYGIKTKQIQEQVVQFLFIKQK"
     misc_feature    104..106
                     /gene="OR52B4"
                     /gene_synonym="OR11-3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGK2.2); glycosylation site"
     misc_feature    173..235
                     /gene="OR52B4"
                     /gene_synonym="OR11-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK2.2);
                     transmembrane region"
     misc_feature    260..322
                     /gene="OR52B4"
                     /gene_synonym="OR11-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK2.2);
                     transmembrane region"
     misc_feature    395..457
                     /gene="OR52B4"
                     /gene_synonym="OR11-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK2.2);
                     transmembrane region"
     misc_feature    515..577
                     /gene="OR52B4"
                     /gene_synonym="OR11-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK2.2);
                     transmembrane region"
     misc_feature    686..748
                     /gene="OR52B4"
                     /gene_synonym="OR11-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK2.2);
                     transmembrane region"
     misc_feature    809..871
                     /gene="OR52B4"
                     /gene_synonym="OR11-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK2.2);
                     transmembrane region"
     misc_feature    917..979
                     /gene="OR52B4"
                     /gene_synonym="OR11-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK2.2);
                     transmembrane region"
ORIGIN
        1 agctcctggt gacatcgcaa agaatgttgc agattttatc ttcttctacc tctgtgagta
       61 ggaggtgagg ttctgaaagt tctccccagc tatgcctact gtaaaccaca gtggcactag
      121 ccacacagtc ttccacttgc tgggcatccc tggcctacag gaccagcaca tgtggatttc
      181 tatcccattc ttcatttcct atgtcaccgc ccttcttggg aacagcctgc tcatcttcat
      241 tatcctcaca aagcgcagcc tccatgaacc catgtacctc ttcctctgca tgctggctgg
      301 agcagacatt gtcctctcca cgtgcaccat tcctcaggcc ttagctatct tctggttccg
      361 tgctggggac atctccctgg atcgttgcat cactcagctc ttcttcatcc attccacctt
      421 catctctgag tcagggatct tgctggtgat ggcctttgac cactatattg ccatatgcta
      481 cccactgagg tacaccacca ttcttacaaa tgctctgatc aagaaaattt gtgtgactgt
      541 ctctctgaga agttatggta caattttccc tatcatattt cttttaaaaa gattgacttt
      601 ctgccagaat aatattattc cacacacctt ttgtgaacac attggcctag ccaaatatgc
      661 atgtaatgac attcgaataa acatttggta tgggttttcc attctaatgt cgacggtggt
      721 cttagatgtt gtactaattt ttatttccta tatgctgatt ctccatgctg tcttccacat
      781 gccttctcca gatgcttgcc acaaagctct caacacattt ggctcccatg tctgcatcat
      841 catcctcttt tatgggtctg gcatcttcac aatccttacc cagaggtttg gacgccacat
      901 tccaccttgt atccacatcc cgttggctaa tgtctgcatt ctggctccac ctatgctgaa
      961 tcccattatt tatgggatca aaaccaagca aatccaggaa caggtggttc agtttttgtt
     1021 tataaaacag aaataacttt ggtttaagaa ctgagttttc agaatctcta gctatctggt
     1081 aagtgggtat gaaagtggta gatgggagag gtcagctgat accg
//
LOCUS       NM_001005162            1008 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily B member 6
            (OR52B6), mRNA.
ACCESSION   NM_001005162
VERSION     NM_001005162.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1008)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000345043.2/ ENSP00000341581.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC015691.6.
            On May 23, 2007 this sequence version replaced NM_001005162.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly.
FEATURES             Location/Qualifiers
     source          1..1008
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1008
                     /gene="OR52B6"
                     /gene_synonym="OR11-47"
                     /note="olfactory receptor family 52 subfamily B member 6"
                     /db_xref="GeneID:340980"
                     /db_xref="HGNC:HGNC:15211"
     CDS             1..1008
                     /gene="OR52B6"
                     /gene_synonym="OR11-47"
                     /note="olfactory receptor OR11-47"
                     /codon_start=1
                     /product="olfactory receptor 52B6"
                     /protein_id="NP_001005162.2"
                     /db_xref="CCDS:CCDS41611.1"
                     /db_xref="GeneID:340980"
                     /db_xref="HGNC:HGNC:15211"
                     /translation="MAQVRALHKIMALFSANSIGAMNNSDTRIAGCFLTGIPGLEQLHI
                     WLSIPFCIMYITALEGNGILICVILSQAILHEPMYIFLSMLASADVLLSTTTMPKALAN
                     LWLGYSLISFDGCLTQMFFIHFLFIHSAVLLAMAFDRYVAICSPLRYVTILTSKVIGKI
                     VTAALSHSFIIMFPSIFLLEHLHYCQINIIAHTFCEHMGIAHLSCSDISINVWYGLAAA
                     LLSTGLDIMLITVSYIHILQAVFRLLSQDARSKALSTCGSHICVILLFYVPALFSVFAY
                     RFGGRSVPCYVHILLASLYVVIPPMLNPVIYGVRTKPILEGAKQMFSNLAKGSK"
     misc_feature    67..69
                     /gene="OR52B6"
                     /gene_synonym="OR11-47"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGF0.3); glycosylation site"
     misc_feature    136..198
                     /gene="OR52B6"
                     /gene_synonym="OR11-47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF0.3);
                     transmembrane region"
     misc_feature    223..285
                     /gene="OR52B6"
                     /gene_synonym="OR11-47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF0.3);
                     transmembrane region"
     misc_feature    358..417
                     /gene="OR52B6"
                     /gene_synonym="OR11-47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF0.3);
                     transmembrane region"
     misc_feature    475..537
                     /gene="OR52B6"
                     /gene_synonym="OR11-47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF0.3);
                     transmembrane region"
     misc_feature    646..708
                     /gene="OR52B6"
                     /gene_synonym="OR11-47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF0.3);
                     transmembrane region"
     misc_feature    769..831
                     /gene="OR52B6"
                     /gene_synonym="OR11-47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF0.3);
                     transmembrane region"
     misc_feature    880..942
                     /gene="OR52B6"
                     /gene_synonym="OR11-47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF0.3);
                     transmembrane region"
ORIGIN
        1 atggcacagg tgagggcgct gcataaaatc atggcccttt tttctgctaa cagcataggt
       61 gctatgaaca actctgacac tcgcatagca ggctgcttcc tcactggcat ccctgggctg
      121 gagcaactac atatctggct gtccatcccc ttctgcatca tgtacatcac tgccctggaa
      181 ggcaatggca tcctaatttg tgtcatcctc tcccaggcaa tcctgcatga gcccatgtac
      241 atattcttat ctatgctggc cagtgctgat gtcttgctct ctaccaccac catgcctaag
      301 gccctggcca atttgtggct aggttatagc ctcatttcct ttgatggctg cctcactcag
      361 atgttcttca ttcacttcct cttcattcac tctgctgtcc tgctggccat ggcctttgac
      421 cgctatgtgg ccatctgctc ccccctgcga tatgtcacaa tcctcacaag caaggtcatt
      481 gggaagatcg tcactgccgc cctgagccac agcttcatca ttatgtttcc atccatcttt
      541 ctccttgagc acctgcacta ttgccagatc aatatcattg cacacacatt ttgtgagcac
      601 atgggcattg cccatctgtc ctgttctgat atctccatca atgtctggta tgggttggca
      661 gctgctcttc tctccacagg cctagacatc atgcttatta ctgtttccta catccacatc
      721 ctccaagcag tcttccgcct cctttctcaa gatgcccgct ccaaggccct gagtacctgt
      781 ggatcccata tctgtgtcat cctactcttc tatgtccctg cgcttttttc tgtctttgcc
      841 tacaggtttg gtgggagaag cgtcccatgc tatgtccata ttctcctggc cagcctctac
      901 gttgtcattc ctcctatgct caatcccgtt atttatggag tgaggactaa gccaatactg
      961 gaaggggcta agcagatgtt ttcaaatctt gccaaaggat ctaaataa
//
LOCUS       NM_001005163            1065 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily D member 1
            (OR52D1), mRNA.
ACCESSION   NM_001005163
VERSION     NM_001005163.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1065)
  AUTHORS   Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M and
            Tokunaga K.
  TITLE     An approach based on a genome-wide association study reveals
            candidate loci for narcolepsy
  JOURNAL   Hum Genet 128 (4), 433-441 (2010)
   PUBMED   20677014
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 1065)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 1065)
  AUTHORS   Bulger M, Bender MA, van Doorninck JH, Wertman B, Farrell CM,
            Felsenfeld G, Groudine M and Hardison R.
  TITLE     Comparative structural and functional analysis of the olfactory
            receptor genes flanking the human and mouse beta-globin gene
            clusters
  JOURNAL   Proc Natl Acad Sci U S A 97 (26), 14560-14565 (2000)
   PUBMED   11121057
REFERENCE   4  (bases 1 to 1065)
  AUTHORS   Bulger M, van Doorninck JH, Saitoh N, Telling A, Farrell C, Bender
            MA, Felsenfeld G, Axel R and Groudine M.
  TITLE     Conservation of sequence and structure flanking the mouse and human
            beta-globin loci: the beta-globin genes are embedded within an array
            of odorant receptor genes
  JOURNAL   Proc Natl Acad Sci U S A 96 (9), 5129-5134 (1999)
   PUBMED   10220430
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1999 Jul 6;96(14):8307. von
            Doorninck JH [corrected to van Doorninck JH]]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136928.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000322641.5/ ENSP00000326232.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC087380.3.
            On Jan 21, 2010 this sequence version replaced NM_001005163.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1065
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1065
                     /gene="OR52D1"
                     /gene_synonym="OR11-43"
                     /note="olfactory receptor family 52 subfamily D member 1"
                     /db_xref="GeneID:390066"
                     /db_xref="HGNC:HGNC:15212"
     CDS             23..979
                     /gene="OR52D1"
                     /gene_synonym="OR11-43"
                     /note="olfactory receptor OR11-43; HOR 5'Beta14; odorant
                     receptor HOR5'beta14"
                     /codon_start=1
                     /product="olfactory receptor 52D1"
                     /protein_id="NP_001005163.1"
                     /db_xref="CCDS:CCDS31384.1"
                     /db_xref="GeneID:390066"
                     /db_xref="HGNC:HGNC:15212"
                     /translation="MSDSNLSDNHLPDTFFLTGIPGLEAAHFWIAIPFCAMYLVALVGN
                     AALILVIAMDNALHAPMYLFLCLLSLTDLALSSTTVPKMLAILWLHAGEISFGGCLAQM
                     FCVHSIYALESSILLAMAFDRYVAICNPLRYTTILNHAVIGRIGFVGLFRSVAIVSPFI
                     FLLRRLPYCGHRVMTHTYCEHMGIARLACANITVNIVYGLTVALLAMGLDSILIAISYG
                     FILHAVFHLPSHDAQHKALSTCGSHIGIILVFYIPAFFSFLTHRFGHHEVPKHVHIFLA
                     NLYVLVPPVLNPILYGARTKEIRSRLLKLLHLGKTSI"
     misc_feature    35..37
                     /gene="OR52D1"
                     /gene_synonym="OR11-43"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9H346.1); glycosylation site"
     misc_feature    107..169
                     /gene="OR52D1"
                     /gene_synonym="OR11-43"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H346.1);
                     transmembrane region"
     misc_feature    194..256
                     /gene="OR52D1"
                     /gene_synonym="OR11-43"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H346.1);
                     transmembrane region"
     misc_feature    329..391
                     /gene="OR52D1"
                     /gene_synonym="OR11-43"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H346.1);
                     transmembrane region"
     misc_feature    449..511
                     /gene="OR52D1"
                     /gene_synonym="OR11-43"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H346.1);
                     transmembrane region"
     misc_feature    620..682
                     /gene="OR52D1"
                     /gene_synonym="OR11-43"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H346.1);
                     transmembrane region"
     misc_feature    743..805
                     /gene="OR52D1"
                     /gene_synonym="OR11-43"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H346.1);
                     transmembrane region"
     misc_feature    854..916
                     /gene="OR52D1"
                     /gene_synonym="OR11-43"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H346.1);
                     transmembrane region"
ORIGIN
        1 agcccttcat ttgccaggaa gaatgtcaga ttccaacctc agtgataacc atcttccaga
       61 caccttcttc ttaacaggga tcccagggct ggaggctgcc cacttctgga ttgccatccc
      121 tttctgtgcc atgtatcttg tagcactggt tggaaatgct gccctcatcc tggtcattgc
      181 catggacaat gctcttcatg cacctatgta cctcttcctc tgccttctct cactcacaga
      241 cctggctctc agttctacca ctgtgcccaa gatgctggcc attttgtggc tccatgctgg
      301 tgagatttcc tttggtggat gcctggccca gatgttttgt gtccattcta tctatgctct
      361 ggagtcctca attctacttg ccatggcctt tgataggtat gtggctatct gtaacccatt
      421 aaggtacaca accattctca accatgctgt cataggcaga attggctttg ttgggctatt
      481 ccgtagtgtg gctattgtct cccccttcat cttcttgctg aggcgactcc cctactgtgg
      541 tcaccgtgtc atgacacaca catactgtga gcatatgggc attgcccgac tggcctgtgc
      601 caacatcact gtcaatattg tctatgggct aactgtggct ctgctggcca tgggactgga
      661 ttccattctc attgccattt cctatggctt tatcctccat gcagtctttc atcttccatc
      721 tcatgatgcc cagcacaaag ctctgagtac ctgtggctcc cacattggca tcatcctggt
      781 tttctacatc cctgccttct tctccttcct cacccaccgc tttggtcacc acgaagtccc
      841 caagcatgtg cacatctttc tggctaatct ctatgtgctg gtgcctcctg tactcaatcc
      901 tattctctat ggagctagaa ccaaggagat tcggagtcga cttctaaaac tgcttcacct
      961 ggggaagact tcaatatgaa tgctgagcag aagttggaga tttaaaaaaa agtgtaggat
     1021 ggctgtctag atacatttac atggacacac agtgatgatg tgaaa
//
LOCUS       NM_001005164             978 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily E member 2
            (OR52E2), mRNA.
ACCESSION   NM_001005164
VERSION     NM_001005164.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 978)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000321522.2/ ENSP00000322088.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC113331.6.
            On Jan 20, 2010 this sequence version replaced NM_001005164.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..978
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..978
                     /gene="OR52E2"
                     /note="olfactory receptor family 52 subfamily E member 2"
                     /db_xref="GeneID:119678"
                     /db_xref="HGNC:HGNC:14769"
     CDS             1..978
                     /gene="OR52E2"
                     /note="olfactory receptor, family 10, subfamily AC, member
                     1 pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 52E2"
                     /protein_id="NP_001005164.2"
                     /db_xref="CCDS:CCDS31371.1"
                     /db_xref="GeneID:119678"
                     /db_xref="HGNC:HGNC:14769"
                     /translation="MFLPNDTQFHPSSFLLLGIPGLETLHIWIGFPFCAVYMIALIGNF
                     TILLVIKTDSSLHQPMFYFLAMLATTDVGLSTATIPKMLGIFWINLRGIIFEACLTQMF
                     FIHNFTLMESAVLVAMAYDSYVAICNPLQYSAILTNKVVSVIGLGVFVRALIFVIPSIL
                     LILRLPFCGNHVIPHTYCEHMGLAHLSCASIKINIIYGLCAICNLVFDITVIALSYVHI
                     LCAVFRLPTHEARLKSLSTCGSHVCVILAFYTPALFSFMTHRFGRNVPRYIHILLANLY
                     VVVPPMLNPVIYGVRTKQIYKCVKKILLQEQGMEKEEYLIHTRF"
     misc_feature    13..15
                     /gene="OR52E2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGJ4.2); glycosylation site"
     misc_feature    82..144
                     /gene="OR52E2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ4.2);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR52E2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ4.2);
                     transmembrane region"
     misc_feature    304..366
                     /gene="OR52E2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ4.2);
                     transmembrane region"
     misc_feature    424..486
                     /gene="OR52E2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ4.2);
                     transmembrane region"
     misc_feature    595..654
                     /gene="OR52E2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ4.2);
                     transmembrane region"
     misc_feature    715..777
                     /gene="OR52E2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ4.2);
                     transmembrane region"
     misc_feature    823..885
                     /gene="OR52E2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ4.2);
                     transmembrane region"
ORIGIN
        1 atgttccttc ccaatgacac ccagtttcac ccctcctcct tcctgttgct ggggatccca
       61 ggactagaaa cacttcacat ctggatcggc tttcccttct gtgctgtgta catgatcgca
      121 ctcataggga acttcactat tctacttgtg atcaagactg acagcagcct acaccagccc
      181 atgttctact tcctggccat gttggccacc actgatgtgg gtctctcaac agctaccatc
      241 cctaagatgc ttggaatctt ctggatcaac ctcagaggga tcatctttga agcctgcctc
      301 acccagatgt tttttatcca caacttcaca cttatggagt cagcagtcct tgtggcaatg
      361 gcttatgaca gctatgtggc catctgcaat ccactccaat atagcgccat cctcaccaac
      421 aaggttgttt ctgtgattgg tcttggtgtg tttgtgaggg ctttaatttt cgtcattccc
      481 tctatacttc ttatattgcg gttgcccttc tgtgggaatc atgtaattcc ccacacctac
      541 tgtgagcaca tgggtcttgc tcatctatct tgtgccagca tcaaaatcaa tattatttat
      601 ggtttatgtg ccatttgtaa tctagtgttt gacatcacag tcattgccct ttcttatgtg
      661 catattcttt gtgctgtttt ccgtcttcct actcatgaag cccgactcaa gtccctcagc
      721 acatgtggtt cacatgtgtg tgtaatcctt gccttctata caccagccct cttttccttt
      781 atgactcatc gctttggccg aaatgtgccc cgctatatcc atatactcct agccaatctc
      841 tatgttgtgg tgccaccaat gctcaatcct gtcatatatg gagtcagaac caagcagatc
      901 tataaatgtg tgaagaaaat attattgcag gaacaaggaa tggaaaagga agagtaccta
      961 atacatacga ggttctga
//
LOCUS       NM_001005165            2947 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily E member 4
            (OR52E4), mRNA.
ACCESSION   NM_001005165
VERSION     NM_001005165.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2947)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641726.1/ ENSP00000493085.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131574.4.
            On Aug 5, 2020 this sequence version replaced NM_001005165.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2947
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..2947
                     /gene="OR52E4"
                     /gene_synonym="OR11-55"
                     /note="olfactory receptor family 52 subfamily E member 4"
                     /db_xref="GeneID:390081"
                     /db_xref="HGNC:HGNC:15213"
     misc_feature    92..94
                     /gene="OR52E4"
                     /gene_synonym="OR11-55"
                     /note="upstream in-frame stop codon"
     CDS             161..1099
                     /gene="OR52E4"
                     /gene_synonym="OR11-55"
                     /note="olfactory receptor OR11-55"
                     /codon_start=1
                     /product="olfactory receptor 52E4"
                     /protein_id="NP_001005165.1"
                     /db_xref="CCDS:CCDS31401.1"
                     /db_xref="GeneID:390081"
                     /db_xref="HGNC:HGNC:15213"
                     /translation="MPSINDTHFYPPFFLLLGIPGLDTLHIWISFPFCIVYLIAIVGNM
                     TILFVIKTEHSLHQPMFYFLAMLSMIDLGLSTSTIPKMLGIFWFNLQEISFGGCLLQMF
                     FIHMFTGMETVLLVVMAYDRFVAICNPLQYTMILTNKTISILASVVVGRNLVLVTPFVF
                     LILRLPFCGHNIVPHTYCEHRGLAGLACAPIKINIIYGLMVISYIIVDVILIASSYVLI
                     LRAVFRLPSQDVRLKAFNTCGSHVCVMLCFYTPAFFSFMTHRFGQNIPHYIHILLANLY
                     VVVPPALNPVIYGVRTKQIREQIVKIFVQKE"
     misc_feature    173..175
                     /gene="OR52E4"
                     /gene_synonym="OR11-55"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGH9.1); glycosylation site"
     misc_feature    242..304
                     /gene="OR52E4"
                     /gene_synonym="OR11-55"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH9.1);
                     transmembrane region"
     misc_feature    329..391
                     /gene="OR52E4"
                     /gene_synonym="OR11-55"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH9.1);
                     transmembrane region"
     misc_feature    464..526
                     /gene="OR52E4"
                     /gene_synonym="OR11-55"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH9.1);
                     transmembrane region"
     misc_feature    584..646
                     /gene="OR52E4"
                     /gene_synonym="OR11-55"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH9.1);
                     transmembrane region"
     misc_feature    755..814
                     /gene="OR52E4"
                     /gene_synonym="OR11-55"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH9.1);
                     transmembrane region"
     misc_feature    875..937
                     /gene="OR52E4"
                     /gene_synonym="OR11-55"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH9.1);
                     transmembrane region"
     misc_feature    983..1045
                     /gene="OR52E4"
                     /gene_synonym="OR11-55"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH9.1);
                     transmembrane region"
ORIGIN
        1 ggggaaccta atcacggtct ttaagaacct ggactcatgc tccaattctg ctccaagtga
       61 gggctgggag aagaaatatt acagaggaac ttgacaagag aggaccttaa agaaagtgag
      121 atccttcata cttaggaatt cagtgacact tgctgggaga atgccttcta tcaatgacac
      181 ccacttctat ccccccttct tcctcctgct aggaatacca ggactggaca ctttacatat
      241 ctggatttct ttcccattct gtattgtgta cctgattgcc attgtgggga atatgaccat
      301 tctctttgtg atcaaaactg aacatagtct acaccagccc atgttctact tcctggccat
      361 gttgtctatg attgatctgg gtctgtccac atccactatc cccaaaatgc taggaatctt
      421 ctggttcaac ctccaagaga tcagctttgg gggatgcctt cttcagatgt tctttattca
      481 catgtttaca ggcatggaga ctgttctgtt ggtggtcatg gcttatgacc gctttgttgc
      541 catctgcaac cctctccagt acaccatgat cctcaccaat aaaaccatca gtatcctagc
      601 ttctgtggtt gttggaagaa atttagttct tgtaacccca tttgtgtttc tcattctgcg
      661 tctgccattc tgtgggcata acatcgtacc tcacacatac tgtgagcaca ggggtctggc
      721 cgggttggcc tgtgcaccca ttaagatcaa cataatctat gggctcatgg tgatttctta
      781 tattattgtg gatgtgatct taattgcctc ttcctatgtg cttatcctta gagctgtttt
      841 tcgccttccc tctcaagatg tccgactaaa ggccttcaat acctgtggtt ctcatgtctg
      901 tgttatgctg tgcttttaca caccagcatt tttttctttt atgacacatc gttttggcca
      961 aaacattccc cactatatcc atattctttt ggctaacctg tatgtggttg tcccacctgc
     1021 ccttaaccct gtcatttatg gagtcaggac caagcagatc cgagagcaaa ttgtgaaaat
     1081 atttgtacag aaagaataat tctgtattaa agtttggata aatatatcta tatacaaccc
     1141 aaattatcat catctgagct ccctttttaa tcttctgtaa cagttggtca tgcttgtcag
     1201 attttttcct tttgactgga agtgctttag tgttgacaga taatgcaaac ttaaaacctt
     1261 tgctgcctgt ttcccctact tctctccaag tacctggaca aaggttagag attaatggag
     1321 aaggtaacta tgctgaaggt tgaggtggct ttggagtaga actgcttgta aacaagggtg
     1381 ataggtagct ccattttttt ccatatgtct tctctctagg taagtttaga tcctgaagga
     1441 tactgatcaa ataaatctca ttttatagat gaacaaaata agctgtaatc cagcagtagt
     1501 gtccgtttca tagctttgta ttctttacag aatccaaaat tttgttgttc ttctccaaaa
     1561 tctttgactc ccatgtttat tttaatgctc tctcagtctt gctgttactg ccatttttgc
     1621 tcctttcctt ctttcagatt cctgctctct ctctttttgt gatggttaat actgagtgtc
     1681 aactttattt gactgaagga tacaaagtat tgatcctggt tttgtctgtg agggtgttgc
     1741 caaaagagat taacatttga gtcagtgggc tgggaaaggc agacccacct tcaatctggg
     1801 tgggcaccat ctaatcagct gccaacgcag ctagaatata aagcaggcag aaaaatgtga
     1861 aaagactaga tgggcctagc ctcccaggct acatccttct cctgtgctgg atgcttcctc
     1921 ctcgaacgtc ggactccaag ttcctcagtt ttgggactca gagtggctct ccttgatctt
     1981 cagcttgcag atggcctatt gtgggacctt gtgatcatgt gagttaatac ttaattcccc
     2041 ctttgtgtgt gtgtgtatgt gtacacacac acacacacac acacacatat atatatatat
     2101 cctattagtt cagtccctct agagaacact gactaataca cttttctttt acattcgttc
     2161 tctgataaag taagtctttg tgaatttagg gatatgagag actacagtgt gggtattacg
     2221 gagacatgtt ttctcacttg aagcaaagtc attttagatg tgactacttg tatgtgtcgc
     2281 ctgtctaatt ctaattctca attctatctg acaatttccc ttcagacaaa atatataaaa
     2341 cttatgagac tttataaaac ttagaaaaac aattaggctc aagctatggt aagcacaggg
     2401 ccagacttga tatcgacttc aaaataatat cattataatt tattaatcct gtagatctcc
     2461 aatatttagt cctattttca aacttcagat atggctggag aatgtggttt gctttaaaat
     2521 agataaaaga gacattgaac tgaaatttgt gacttatcag ggtactcatg cttcaaaatc
     2581 agaagaagtc tccctcatgt tctataattt agaaccactg tgtagtttgt atgacaatat
     2641 acaaaatact caaaagtacg cagataacga ttttaggaaa tgggggcgga tatagccaag
     2701 tagacaagaa aagcaacatc acctattcag tatctgtgaa tctggacagt tcttggtctt
     2761 aacactggct aagcacaatt cctgaattct atagtatttt gtagattttc tttaggtctg
     2821 tatgcatggg ttctaatttg atttttgcag cttctgcttc atgtacttaa cattttatgg
     2881 gaacataggg ttttaaatgt ggaaatacat tgaaacttga tctattccct ttgtcttaca
     2941 aataaaa
//
LOCUS       NM_001005166            2244 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily E member 5
            (OR52E5), mRNA.
ACCESSION   NM_001005166
VERSION     NM_001005166.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2244)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA2148874, SAMEA2149178
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000610445.2/ ENSP00000480583.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131574.4 and AC025016.8.
            On Nov 19, 2020 this sequence version replaced NM_001005166.4.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..2244
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..2244
                     /gene="OR52E5"
                     /gene_synonym="OR11-56"
                     /note="olfactory receptor family 52 subfamily E member 5"
                     /db_xref="GeneID:390082"
                     /db_xref="HGNC:HGNC:15214"
     misc_feature    273..275
                     /gene="OR52E5"
                     /gene_synonym="OR11-56"
                     /note="upstream in-frame stop codon"
     misc_feature    279..281
                     /gene="OR52E5"
                     /gene_synonym="OR11-56"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MATN"
     CDS             291..1274
                     /gene="OR52E5"
                     /gene_synonym="OR11-56"
                     /note="olfactory receptor OR11-56 pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 52E5"
                     /protein_id="NP_001005166.3"
                     /db_xref="CCDS:CCDS91427.1"
                     /db_xref="GeneID:390082"
                     /db_xref="HGNC:HGNC:15214"
                     /translation="MLHTNNTQFHPSTFLVVGVPGLEDVHVWIGFPFFAVYLTALLGNI
                     IILFVIQTEQSLHQPMFYFLAMLAGTDLGLSTATIPKMLGIFWFNLGEIAFGACITQMY
                     TIHICTGLESVVLTVTGIDRYIAICNPLRYSMILTNKVIAILGIVIIVRTLVFVTPFTF
                     LILRLPFCGVRIIPHTYCEHMGLAKLACASINVIYGLIAFSVGYIDISVIGFSYVQILR
                     AVFHLPAWDARPKALSTCGSHVCVMLAFYLPALFSFMTHRFGHNIPHYIHILLANLYVV
                     FPPALNSVIYGVKTKQIREQVLRILNPKSFWHFDPKRIFHNNSVRQ"
     misc_feature    303..305
                     /gene="OR52E5"
                     /gene_synonym="OR11-56"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH55.2); glycosylation site"
     misc_feature    381..443
                     /gene="OR52E5"
                     /gene_synonym="OR11-56"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH55.2);
                     transmembrane region"
     misc_feature    459..521
                     /gene="OR52E5"
                     /gene_synonym="OR11-56"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH55.2);
                     transmembrane region"
     misc_feature    594..656
                     /gene="OR52E5"
                     /gene_synonym="OR11-56"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH55.2);
                     transmembrane region"
     misc_feature    723..785
                     /gene="OR52E5"
                     /gene_synonym="OR11-56"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH55.2);
                     transmembrane region"
     misc_feature    876..938
                     /gene="OR52E5"
                     /gene_synonym="OR11-56"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH55.2);
                     transmembrane region"
     misc_feature    1005..1067
                     /gene="OR52E5"
                     /gene_synonym="OR11-56"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH55.2);
                     transmembrane region"
     misc_feature    1107..1169
                     /gene="OR52E5"
                     /gene_synonym="OR11-56"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH55.2);
                     transmembrane region"
ORIGIN
        1 catacaggtt gcagtctggg gtatccggtc cttcacagac aatttctcag atgcggggca
       61 gagcaggatg atcatcttat tggcatttat ggttgacccc tgcggaagca ttacattgga
      121 ggaaacacaa taactgaaaa accaagtctc ttatgctata ttatggagtt aaagaatgga
      181 ttttctgttt ccccaagaaa tagacaccat gctgtgaaag aagttatggt ttctcactgg
      241 aagcaagaaa actcatgcaa gaaatgtgtc tgtagggaat ggccaccaat atgcttcata
      301 ccaacaatac acagtttcac ccttccacct tcctcgtagt gggggtccca gggctggaag
      361 atgtgcatgt atggattggc ttccccttct ttgcagtgta tctaacagcc cttctaggga
      421 acatcattat cctgtttgtg atacagactg aacagagcct ccaccaaccc atgttttact
      481 tcctagccat gttggccggc actgatctgg gcttgtctac agcaaccatc cccaagatgc
      541 tgggaatttt ctggtttaat cttggagaga ttgcatttgg tgcctgcatc acacagatgt
      601 ataccattca tatatgcact ggcctggagt ctgtggtact gacagtcacg ggcatagatc
      661 gctatattgc catctgcaac cccctgagat atagcatgat ccttaccaac aaggtaatag
      721 ccattctggg catagtcatc attgtcagga ctttggtatt tgtgactcca ttcacatttc
      781 tcatcctgag attgcctttc tgtggtgtcc ggattatccc tcatacctat tgtgaacaca
      841 tgggcttggc aaagttagct tgtgccagta ttaatgttat atatggattg attgccttct
      901 cagtgggata cattgacatt tctgtgattg gattttccta tgtccagatc ctccgagctg
      961 tcttccatct cccagcctgg gatgcccggc ctaaggcact cagcacatgt ggctctcacg
     1021 tctgtgttat gttggctttc tacctgccag ccctcttttc cttcatgaca caccgctttg
     1081 gccacaacat ccctcattac atccacattc ttctggccaa tctgtatgtg gtttttcccc
     1141 ctgctcttaa ctctgttatc tatggggtca aaacaaaaca gatacgagag caggtactta
     1201 ggatactcaa ccctaaaagc ttttggcatt ttgaccccaa gaggatcttc cacaacaatt
     1261 cagttagaca ataatgagat cataacaaaa taaacactgg aaacattttt tttactactt
     1321 ctcttgcatt cccacatgag ccaatagcat tatatcccct acaacgtctc atgatttcag
     1381 tacggtctgt tggaagttat agctcaaaga ttccaaaaca atctctctgt ttcacccatt
     1441 aaaagtgcaa aaagtactca cacttaagcc ccatgatact acaaaatgcc taaagagaaa
     1501 caaaggcttt gtaaaagtta ttgcccagta attgtcttga atagcctttc cacatgaaga
     1561 ttctctgtat ttacatatcc aaagctgaag ttcatgacga ttaaaatgat gtggtatttc
     1621 atcaaaacca ggcaggatac agtggcaaga gaaattaact aggagtcata agatctagat
     1681 ttaaatacag gttatggcct tacctaaaat tttgacctga gcatttcact tagactcttt
     1741 gagttcacaa taacaaattc atactgattt atagcatttt atgagcaggg atattgaagc
     1801 ttaaagtgaa tgttgtgaaa atctgtgcag cttgtaaaac attaaaagat ttggaaacaa
     1861 aatgagtgct tactaaacat aattatagtg taattgttat ttctaatgta tgtagatttc
     1921 atttactaat ccactctagt atacaatccc tggtttgagg tcagctctcc agatccagat
     1981 tatcccaacg catgggcctc ttcatggacc tctcagctct taccttcgtg aaagagactt
     2041 tcagtcagga gactataaag cttgaagagt taacaggttt ctgtcttggg cttaaggact
     2101 cagggaaatc ccatcctcca cagtctttgc tagagtgggt tttagggcag actgtaatag
     2161 tgtggctgct gaaataatat aaagtcattc ttaataaggt atagaagata aataggacaa
     2221 tttatttctt tgggtattct agga
//
LOCUS       NM_001005167             970 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily E member 6
            (OR52E6), mRNA.
ACCESSION   NM_001005167
VERSION     NM_001005167.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 970)
  AUTHORS   Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M and
            Tokunaga K.
  TITLE     An approach based on a genome-wide association study reveals
            candidate loci for narcolepsy
  JOURNAL   Hum Genet 128 (4), 433-441 (2010)
   PUBMED   20677014
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 970)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 970)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000329322.5/ ENSP00000328878.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC131574.4.
            On May 17, 2019 this sequence version replaced NM_001005167.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..970
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..970
                     /gene="OR52E6"
                     /gene_synonym="OR11-58"
                     /note="olfactory receptor family 52 subfamily E member 6"
                     /db_xref="GeneID:390078"
                     /db_xref="HGNC:HGNC:15215"
     CDS             1..942
                     /gene="OR52E6"
                     /gene_synonym="OR11-58"
                     /note="olfactory receptor OR11-58"
                     /codon_start=1
                     /product="olfactory receptor 52E6"
                     /protein_id="NP_001005167.1"
                     /db_xref="CCDS:CCDS53597.1"
                     /db_xref="GeneID:390078"
                     /db_xref="HGNC:HGNC:15215"
                     /translation="MPIANDTQFHTSSFLLLGIPGLEDVHIWIGFPFFSVYLIALLGNA
                     AIFFVIQTEQSLHEPMYYCLAMLDSIDLSLSTATIPKMLGIFWFNIKEISFGGYLSQMF
                     FIHFFTVMESIVLVAMAFDRYIAICKPLWYTMILTSKIISLIAGIAVLRSLYMVIPLVF
                     LLLRLPFCGHRIIPHTYCEHMGIARLACASIKVNIMFGLGSISLLLLDVLLIILSHIRI
                     LYAVFCLPSWEARLKALNTCGSHIGVILAFSTPAFFSFFTHCFGHDIPQYIHIFLANLY
                     VVVPPTLNPVIYGVRTKHIRETVLRIFFKTDH"
     misc_feature    13..15
                     /gene="OR52E6"
                     /gene_synonym="OR11-58"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96RD3.2); glycosylation site"
     misc_feature    82..144
                     /gene="OR52E6"
                     /gene_synonym="OR11-58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD3.2);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR52E6"
                     /gene_synonym="OR11-58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD3.2);
                     transmembrane region"
     misc_feature    304..366
                     /gene="OR52E6"
                     /gene_synonym="OR11-58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD3.2);
                     transmembrane region"
     misc_feature    424..486
                     /gene="OR52E6"
                     /gene_synonym="OR11-58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD3.2);
                     transmembrane region"
     misc_feature    595..654
                     /gene="OR52E6"
                     /gene_synonym="OR11-58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD3.2);
                     transmembrane region"
     misc_feature    715..777
                     /gene="OR52E6"
                     /gene_synonym="OR11-58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD3.2);
                     transmembrane region"
     misc_feature    823..885
                     /gene="OR52E6"
                     /gene_synonym="OR11-58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD3.2);
                     transmembrane region"
ORIGIN
        1 atgcctatag ctaacgacac ccagttccat acttcttcat tcctactgct gggtatccca
       61 gggctagaag atgtgcacat ctggattgga ttcccttttt tctctgtgta tcttattgca
      121 ctcctgggaa atgctgctat cttctttgtg atccaaactg agcagagtct ccatgagccc
      181 atgtactact gcctggccat gttggattcc attgacctga gcttgtctac ggccaccatt
      241 cccaaaatgc tgggcatctt ctggttcaat atcaaggaaa tatcttttgg aggctacctt
      301 tctcagatgt tcttcatcca tttcttcact gtcatggaga gcatcgtatt ggtggccatg
      361 gcctttgacc gctacattgc catttgcaaa cctctttggt acaccatgat cctcaccagc
      421 aaaatcatca gcctcattgc aggcattgct gtcctgagga gcttgtacat ggtcattcca
      481 ctggtgtttc tcctcttaag gttgcccttc tgtggacatc gtatcatccc tcatacttac
      541 tgtgagcaca tgggcattgc ccgtctggcc tgtgccagca tcaaagtcaa cattatgttt
      601 ggtcttggca gtatttctct cttgttattg gatgtgctcc ttattattct ctcccatatc
      661 aggatcctct atgctgtctt ctgcctgccc tcctgggaag ctcgactcaa agctctcaac
      721 acctgtggct ctcacattgg tgttatctta gccttttcta caccagcatt tttctctttc
      781 tttacacact gctttggcca tgatattccc caatatatcc acattttctt ggctaatcta
      841 tatgtggttg ttcctcccac cctcaatcct gtaatctatg gggtcagaac caaacatatt
      901 agggagacag tgctgaggat tttcttcaag acagatcact aaccagttgg agtttggagg
      961 gtctctctta
//
LOCUS       NM_001005168             942 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily E member 8
            (OR52E8), mRNA.
ACCESSION   NM_001005168
VERSION     NM_001005168.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 942)
  AUTHORS   Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd
            C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E,
            Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K,
            Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC,
            Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES and
            Sakaki Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
REFERENCE   2  (bases 1 to 942)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC137041.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000537935.2/ ENSP00000444054.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131574.4.
            On Feb 24, 2021 this sequence version replaced NM_001005168.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..942
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..942
                     /gene="OR52E8"
                     /gene_synonym="OR11-54"
                     /note="olfactory receptor family 52 subfamily E member 8"
                     /db_xref="GeneID:390079"
                     /db_xref="HGNC:HGNC:15217"
     CDS             1..942
                     /gene="OR52E8"
                     /gene_synonym="OR11-54"
                     /note="olfactory receptor, family 52, subfamily E, member 8
                     pseudogene; olfactory receptor OR11-54"
                     /codon_start=1
                     /product="olfactory receptor 52E8"
                     /protein_id="NP_001005168.2"
                     /db_xref="CCDS:CCDS31400.2"
                     /db_xref="GeneID:390079"
                     /db_xref="HGNC:HGNC:15217"
                     /translation="MSTSNHTQFHPSSFLLLGIPGLEDVHIWIGVPFFFVYLVALLGNT
                     ALLFVIQTEQSLHEPMYYFLAMLDSIDLGLSTATIPKMLGIFWFNTKEISFGGCLSHMF
                     FIHFFTAMESIVLVAMAFDRYIAICKPLRYTMILTSKIISLIAGIAVLRSLYMVVPLVF
                     LLLRLPFCGHRIIPHTYCEHMGIARLACASIKVNIRFGLGNISLLLLDVILIILSYVRI
                     LYAVFCLPSWEARLKALNTCGSHIGVILAFFTPAFFSFLTHRFGHNIPQYIHIILANLY
                     VVVPPALNPVIYGVRTKQIRERVLRIFLKTNH"
ORIGIN
        1 atgtctacgt ctaatcacac ccagttccat ccttcttcat tcctactgct gggtatccca
       61 gggctagaag atgtgcacat ttggattgga gtcccttttt tctttgtgta tcttgttgca
      121 ctcctgggaa acactgctct cttgtttgtg atccagactg agcagagtct ccatgagcct
      181 atgtactact tcctggccat gttggattcc attgacctgg gcttgtctac agccaccatc
      241 cccaaaatgt tgggcatctt ctggttcaat accaaagaaa tatcttttgg aggctgcctt
      301 tctcacatgt tcttcatcca tttcttcact gctatggaga gcattgtgtt ggtggccatg
      361 gcctttgacc gctacattgc catttgcaaa cctcttcggt acaccatgat cctcaccagc
      421 aaaatcatca gcctcattgc aggcattgct gtcctgagga gcctgtacat ggttgttcca
      481 ctggtgtttc tccttctgag gctgcccttc tgtgggcatc gtatcatccc tcatacttat
      541 tgtgagcaca tgggcattgc ccgtctggcc tgtgccagca tcaaagtcaa cattaggttt
      601 ggccttggca acatatctct cttgttactg gatgttatcc ttattattct ctcctatgtc
      661 aggatcctgt atgctgtctt ctgcctgccc tcctgggaag ctcgactcaa agctctcaac
      721 acctgtggtt ctcatattgg tgttatctta gcctttttta caccagcatt tttttcattc
      781 ttgacacatc gttttggcca taatatccca cagtatatac atattatatt agccaacctg
      841 tatgtggttg tcccaccagc cctcaatcct gtaatctatg gagtcaggac aaagcagatt
      901 cgagagagag tgctgaggat ttttctcaag accaatcact aa
//
LOCUS       NM_001005169             975 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily I member 1
            (OR52I1), mRNA.
ACCESSION   NM_001005169
VERSION     NM_001005169.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 975)
  AUTHORS   Malhotra A, Igo RP Jr, Thameem F, Kao WH, Abboud HE, Adler SG, Arar
            NH, Bowden DW, Duggirala R, Freedman BI, Goddard KA, Ipp E, Iyengar
            SK, Kimmel PL, Knowler WC, Kohn O, Leehey D, Meoni LA, Nelson RG,
            Nicholas SB, Parekh RS, Rich SS, Chen YD, Saad MF, Scavini M,
            Schelling JR, Sedor JR, Shah VO, Taylor KD, Thornley-Brown D, Zager
            PG, Horvath A and Hanson RL.
  CONSRTM   Family Investigation of Nephropathy and Diabetes Research Group
  TITLE     Genome-wide linkage scans for type 2 diabetes mellitus in four
            ethnically diverse populations-significant evidence for linkage on
            chromosome 4q in African Americans: the Family Investigation of
            Nephropathy and Diabetes Research Group
  JOURNAL   Diabetes Metab Res Rev 25 (8), 740-747 (2009)
   PUBMED   19795399
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 975)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 975)
  AUTHORS   Vanti WB, Nguyen T, Cheng R, Lynch KR, George SR and O'Dowd BF.
  TITLE     Novel human G-protein-coupled receptors
  JOURNAL   Biochem Biophys Res Commun 305 (1), 67-71 (2003)
   PUBMED   12732197
  REMARK    GeneRIF: This publication uses 'GPR134' as a name for this gene.
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000530443.4/ ENSP00000436453.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090719.8.
            On Sep 22, 2004 this sequence version replaced XM_372348.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..975
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..975
                     /gene="OR52I1"
                     /gene_synonym="OR11-13"
                     /note="olfactory receptor family 52 subfamily I member 1"
                     /db_xref="GeneID:390037"
                     /db_xref="HGNC:HGNC:15220"
     CDS             1..975
                     /gene="OR52I1"
                     /gene_synonym="OR11-13"
                     /note="olfactory receptor OR11-13"
                     /codon_start=1
                     /product="olfactory receptor 52I1"
                     /protein_id="NP_001005169.1"
                     /db_xref="CCDS:CCDS59223.1"
                     /db_xref="GeneID:390037"
                     /db_xref="HGNC:HGNC:15220"
                     /translation="MLGPAYNHTMETPASFLLVGIPGLQSSHLWLAISLSAMYITALLG
                     NTLIVTAIWMDSTRHEPMYCFLCVLAAVDIVMASSVVPKMVSIFCSGDSSISFSACFTQ
                     MFFVHLATAVETGLLLTMAFDRYVAICKPLHYKRILTPQVMLGMSMAVTIRAVTFMTPL
                     SWMMNHLPFCGSNVVVHSYCKHIALARLACADPVPSSLYSLIGSSLMVGSDVAFIAASY
                     ILILRAVFDLSSKTAQLKALSTCGSHVGVMALYYLPGMASIYAAWLGQDIVPLHTQVLL
                     ADLYVIIPATLNPIIYGMRTKQLLEGIWSYLMHFLFDHSNLGS"
     misc_feature    19..21
                     /gene="OR52I1"
                     /gene_synonym="OR11-13"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGK6.2); glycosylation site"
     misc_feature    88..150
                     /gene="OR52I1"
                     /gene_synonym="OR11-13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK6.2);
                     transmembrane region"
     misc_feature    175..237
                     /gene="OR52I1"
                     /gene_synonym="OR11-13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK6.2);
                     transmembrane region"
     misc_feature    310..372
                     /gene="OR52I1"
                     /gene_synonym="OR11-13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK6.2);
                     transmembrane region"
     misc_feature    430..492
                     /gene="OR52I1"
                     /gene_synonym="OR11-13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK6.2);
                     transmembrane region"
     misc_feature    601..663
                     /gene="OR52I1"
                     /gene_synonym="OR11-13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK6.2);
                     transmembrane region"
     misc_feature    724..786
                     /gene="OR52I1"
                     /gene_synonym="OR11-13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK6.2);
                     transmembrane region"
     misc_feature    835..897
                     /gene="OR52I1"
                     /gene_synonym="OR11-13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK6.2);
                     transmembrane region"
ORIGIN
        1 atgctgggtc cagcttacaa ccacacaatg gaaacccctg cctccttcct ccttgtgggt
       61 atcccaggac tgcaatcttc acatctttgg ctggctatct cactgagtgc catgtacatc
      121 acagccctgt taggaaacac cctcatcgtg actgcaatct ggatggattc cactcggcat
      181 gagcccatgt attgctttct gtgtgttctg gctgctgtgg acattgttat ggcctcctcc
      241 gtggtaccca agatggtgag catcttctgc tcgggagaca gctccatcag ctttagtgct
      301 tgtttcactc agatgttttt tgtccactta gccacagctg tggagacggg gctgctgctg
      361 accatggctt ttgaccgcta tgtagccatc tgcaagcctc tacactacaa gagaattctc
      421 acgcctcaag tgatgctggg aatgagtatg gccgtcacca tcagagctgt cacattcatg
      481 actccactga gttggatgat gaatcatcta cctttctgtg gctccaatgt ggttgtccac
      541 tcctactgta agcacatagc tttggccagg ttagcatgtg ctgaccccgt gcccagcagt
      601 ctctacagtc tgattggttc ctctcttatg gtgggctctg atgtggcctt cattgctgcc
      661 tcctatatct taattctcag ggcagtattt gatctctcct caaagactgc tcagttgaaa
      721 gcattaagca catgtggctc ccatgtgggg gttatggctt tgtactatct acctgggatg
      781 gcatccatct atgcggcctg gttggggcag gatatagtgc ccttgcacac ccaagtgctg
      841 ctagctgacc tgtacgtgat catcccagcc actttaaatc ccatcatcta tggcatgagg
      901 accaaacaat tgctggaggg aatatggagt tatctgatgc acttcctctt tgaccactcc
      961 aacctgggtt catga
//
LOCUS       NM_001005171            5456 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily K member 1
            (OR52K1), transcript variant 1, mRNA.
ACCESSION   NM_001005171
VERSION     NM_001005171.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5456)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   2  (bases 1 to 5456)
  AUTHORS   Kwee LC, Liu Y, Haynes C, Gibson JR, Stone A, Schichman SA, Kamel F,
            Nelson LM, Topol B, Van den Eeden SK, Tanner CM, Cudkowicz ME,
            Grasso DL, Lawson R, Muralidhar S, Oddone EZ, Schmidt S and Hauser
            MA.
  TITLE     A high-density genome-wide association screen of sporadic ALS in US
            veterans
  JOURNAL   PLoS One 7 (3), e32768 (2012)
   PUBMED   22470424
REFERENCE   3  (bases 1 to 5456)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641528.1/ ENSP00000493011.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010930.9.
            On Jul 24, 2020 this sequence version replaced NM_001005171.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..5456
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..5456
                     /gene="OR52K1"
                     /gene_synonym="OR11-8"
                     /note="olfactory receptor family 52 subfamily K member 1"
                     /db_xref="GeneID:390036"
                     /db_xref="HGNC:HGNC:15222"
     misc_feature    830..832
                     /gene="OR52K1"
                     /gene_synonym="OR11-8"
                     /note="upstream in-frame stop codon"
     CDS             860..1804
                     /gene="OR52K1"
                     /gene_synonym="OR11-8"
                     /note="isoform 1 is encoded by transcript variant 1;
                     olfactory receptor 52K1; olfactory receptor OR11-8"
                     /codon_start=1
                     /product="olfactory receptor 52K1 isoform 1"
                     /protein_id="NP_001005171.2"
                     /db_xref="CCDS:CCDS31352.1"
                     /db_xref="GeneID:390036"
                     /db_xref="HGNC:HGNC:15222"
                     /translation="MLPSNITSTHPAVFLLVGIPGLEHLHAWISIPFCFAYTLALLGNC
                     TLLFIIQADAALHEPMYLFLAMLATIDLVLSSTTLPKMLAIFWFRDQEINFFACLVQMF
                     FLHSFSIMESAVLLAMAFDRYVAICKPLHYTTVLTGSLITKIGMAAVARAVTLMTPLPF
                     LLRRFHYCRGPVIAHCYCEHMAVVRLACGDTSFNNIYGIAVAMFIVVLDLLFVILSYVF
                     ILQAVLQLASQEARYKAFGTCVSHIGAILSTYTPVVISSVMHRVARHAAPRVHILLAIF
                     YLLFPPMVNPIIYGVKTKQIREYVLSLFQRKNM"
     misc_feature    872..874
                     /gene="OR52K1"
                     /gene_synonym="OR11-8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGK4.2); glycosylation site"
     misc_feature    941..1003
                     /gene="OR52K1"
                     /gene_synonym="OR11-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK4.2);
                     transmembrane region"
     misc_feature    1028..1090
                     /gene="OR52K1"
                     /gene_synonym="OR11-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK4.2);
                     transmembrane region"
     misc_feature    1163..1225
                     /gene="OR52K1"
                     /gene_synonym="OR11-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK4.2);
                     transmembrane region"
     misc_feature    1283..1345
                     /gene="OR52K1"
                     /gene_synonym="OR11-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK4.2);
                     transmembrane region"
     misc_feature    1454..1516
                     /gene="OR52K1"
                     /gene_synonym="OR11-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK4.2);
                     transmembrane region"
     misc_feature    1577..1639
                     /gene="OR52K1"
                     /gene_synonym="OR11-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK4.2);
                     transmembrane region"
     misc_feature    1685..1747
                     /gene="OR52K1"
                     /gene_synonym="OR11-8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK4.2);
                     transmembrane region"
ORIGIN
        1 cttagactga aagaggaagg cggcactggt gctgcatgaa gctaatgaaa agggcccagg
       61 attgtaagtc agactgagga ctgtggatac agctgcaact tagggaaata gaaaacaagt
      121 gatgttattg gggtgagcag gaaggtggga gtgagctgga aggtgggggc actgtcaatt
      181 tcttcccata gccattcctg atcttaggca tcagctctcc aaccctgtta ttgcttctac
      241 tctggtcctt caatagaggg aacagaagtc tcgatagtcc cacccaactg tttggtacac
      301 aaactccaga tgctctcccc accacagagg atgcctgctt ccgtcctatg ccaaacactg
      361 tgggccatct ccaagaagtc ttagttgatt attccagttt ggatctgtca cttctcacct
      421 cctgtcattg ctttttctaa cccctggcaa atgccccatc ccagttaaag ggcttctgca
      481 ttagtcaaga ggaagaaaac gaggcctgaa ctagaaagat ggcagggaaa ggtattcatg
      541 acatcaccaa gaacacagaa aacactacat atactccatt cctttatgaa agttgtctta
      601 gaatattaaa tatccataga attgatatcc catctactca atgagattca aatttctttg
      661 agggtagaaa atatggatta tacttctcca tgtctatgaa ggctgctagg ttattttgtt
      721 taaagtctag caatggaaac aagaggtaat ctttgcaggt gggatagcac aggttgaact
      781 ctaatcatat atactgtaga aggtatatat agaaggtgaa gaagccctgt aaaaattgac
      841 aaggagattt ccaggagcca tgcttccctc taatatcacc tcaacacatc cagctgtctt
      901 tttgttggta ggaattcctg gtttggaaca cctgcatgcc tggatctcca tccccttctg
      961 ctttgcttat actctggccc tgctaggcaa ctgtaccctt ctcttcatta tccaggctga
     1021 tgcagccctc catgaaccca tgtacctctt tctggccatg ttggcaacca ttgacttggt
     1081 tctttcttct acaacgctgc ccaaaatgct tgccatattc tggttcaggg atcaggagat
     1141 caacttcttt gcctgtctgg tccagatgtt cttccttcac tccttctcca tcatggagtc
     1201 agcagtgctg ctggccatgg cctttgaccg ctatgtggcc atctgcaagc cattgcacta
     1261 cacgacggtc ctgactgggt ccctcatcac caagattggc atggctgctg tggcccgggc
     1321 tgtgacacta atgactccac tccccttcct gctcagacgc ttccactact gccgaggccc
     1381 agtgattgcc cattgctact gtgaacacat ggctgtggta aggctggcgt gtggggacac
     1441 tagcttcaac aatatctatg gcattgctgt ggccatgttt attgtggtgt tggacctgct
     1501 ctttgttatc ctgtcttatg tcttcatcct tcaggcagtt ctccagcttg cctctcagga
     1561 ggcccgctac aaggcatttg ggacatgtgt gtctcacata ggtgccatcc tgtccaccta
     1621 cactccagta gtcatctctt cagtcatgca ccgtgtagcc cgccatgctg cccctcgtgt
     1681 ccacatactc cttgctattt tctatctcct tttcccaccc atggtcaatc ctatcatata
     1741 tggagtcaag accaagcaga ttcgtgagta tgtgctcagt ctattccaga gaaagaacat
     1801 gtagatggat agttctcttt ttttatccca cttgccaagt aatgagaatg ctggattggg
     1861 gttgagggga aaaatctaaa taggaaaatt gcagagtatc tttgacaatt ctctagtatg
     1921 ataaggaaaa tgaggtttca ttcctcacag atctacgagt caggtcaaac caggagtgca
     1981 cctatagtct ggtctgatag tagaggtttg accttcccat tgtcatagac tcatcacatg
     2041 gctaaggaag acaaacctct caaagtggta ttgtaatctg ggtgaaagac agtaggacct
     2101 ttattggctg agattggccc aaacagctga gtcacccaaa caggtgactt ctttatccag
     2161 gtatgagtga ggaaatgtac ctcaaatttt gtgaccccaa aaccattatt ccttttagta
     2221 ctgaaattac ccccatgtct tttctgacaa gtaccctcca ccctttgcca ctctttatag
     2281 cctactatct cccaatttta tttctacagt tagacagctc catttataag tagatctatt
     2341 tcttccatta agtcaattcc tcttttactt ccttcctgat agacatggcc aattccttta
     2401 gtgaacattt atcaaaagag tcctccgatg ttccttttta tcaatttata tcatgtatct
     2461 agcttttcac tgcatgtctt ttgcctccaa aatacttagt aatatttatt aaatgaacgg
     2521 atagaagagc tgaatactat ctttgaacta tgaaccatga aaagagaaat aacacccttc
     2581 cctcttgaag ctgagatttc tgaaaataag aaaatacaat actgtcacac actgcataat
     2641 gaagttttgg tcagtaatgg atcacctata tgatggtgat tgcataacat tatagtaccg
     2701 tatatttact gtatgttttt taacttttaa gttacatgta caggtttgtt atctaggtaa
     2761 agccatgtta tgggggtttt gttgtacaga ttatttcatc acccaagtat taagcctagt
     2821 attcattagc tatttttctg tttaaataca caaatactta ttgtgttaca attgcctaca
     2881 atattgggtt tgtagcctag gagcaacagg ctataccata tagcttaggt gtatagcaag
     2941 cgataccatc taggtttgtg taaatacact ctatgatgtt cacaggttga taaaatcacc
     3001 tgaggacaca tttctcagaa tgtatcccca tcattaagca atgcatgact agttagacat
     3061 gattgtagtt gtgatagact gtattactgt ccaccaatat ttagtctcct gtccttctat
     3121 catgggtagg gtatttcctt cactccacga attttaaact ttgctgtatg acttgatttg
     3181 gccaatgaaa tttgagtagc cctgaaatgt acttcgagaa tcagaaagtt tattaaaaaa
     3241 aacagatgct agtgaggttg tagagaaaag gaaacactta tatactgctg gtaggagtgt
     3301 aaattatttc acccattatg gaaagcagta ggtgattcct caaagaccta aaaacagaaa
     3361 taccatttga ctgagtgatc ctttagtggg tatgtaccca aaggaaccta agttgttcta
     3421 ccataaagat aacatgtatg tgtacattca ctgcagcact attcacaata gcaaagacac
     3481 ggaatcaacc taaaggccta tcaacagttg actggataaa gaaaatgtga tacatatgca
     3541 ccatggaata ctatgcagcc gtcaaaaaga ataagatcat gtcctttgca ggaacatgga
     3601 tggagctaga ggccattatt ctttgcaaac taaaagggga atagaaaaat aaaataccac
     3661 atgttctcac ttataagtgg gaactaaaca atgagaacac atggacacaa agaggagcag
     3721 gagacactgg ggcctattta aggtaggagg gagaggatca ggaaaaataa ctatcaggta
     3781 ctacgcctag tacctaggtg attaaagaac ttgtacaaca aactcccgtg acacaagttt
     3841 atttatataa cacacctgca catgtacctc taacctaaaa taaaagttaa aaaggacact
     3901 atgatattgg tgcaaagatc gaatggaaag gaacagaaag acaagaagtt gcctggtcca
     3961 tatagacacg tgttattgca gaggtgtgtg atacatatgc accatggaat actatacagc
     4021 catcaaaaag aaataagatc acgtcctttg tgggaacatg gatggagcta gaggccatta
     4081 ttctttgcaa attaaagtgt gcattaactt tcctgctttc tttcccctct gctgcaaaac
     4141 ccagcaaagt tccagttaga ggctgtgaca aagccaaagt ccacccacaa tgagtaagaa
     4201 gtgtaaatga gaaattgtgt ttgagctgct aaaaaaaaaa aataaacttt aaaatatggc
     4261 tggaaagctt atctttcatt ctttccctct accagaagaa taagcgtatc acagcctaga
     4321 ctcatgatga agatccatgg agcagatgtg aatctgactc actgcctgta gcatagtcat
     4381 aactgaccca cagtgttcat ataacatgaa caaggatgat tttgttgttt ttgtagtgaa
     4441 ccactgaaat ttgggagttg tttgtttcac agccttaccc aaggagcacc aattgctgga
     4501 gttgtgagtt ctatcttgca tttcaactca tgacagctca agactgaata tttaaaggaa
     4561 atacagtctt cttacagcat atcataaaat tatttcactt atctctgctt ttgtctttca
     4621 aactctcata atgaacactt cttcagtcag ttctacaaaa agaagctccc atacatactt
     4681 ttacatgatc tacttatact gtagggacca gccctacagg gtctgtgagt ttttcccctt
     4741 gtgtgcagag atgagagatc atagaaataa agacaaaaga taaagagaag aaaagacagc
     4801 tgggcctggg ggaccagtac caccaagatg cagagaccgg tagtggcccc gaatgcctgg
     4861 ctgcactgtt atttattgga tacaaggcaa aaggggcagg gtaaagagtg tgagtcatct
     4921 ccaatggttg ataaggtcac ataagtcacg tgtccactgg acagggggcc cttccctgtt
     4981 tggcagccaa gaaggagaga gagagaggac agcttacacc attatttctt ctatgcattt
     5041 caaagacttt tagtactttc acttattctg ctactgctat ctggaaggca gagccaggtg
     5101 tacagggtgg aacgtgaaag tgaaacagga gcgtgactgc tgaagcacag catcacaggg
     5161 atgctggatg ctgtggcctc cagatggctg tgggtgggcc tgactaatgt caggccttcc
     5221 acaagaggtg gtgaaacaga gtcttctcta actcccccag ggaaagggag actccctttc
     5281 tgggtctgtt agtaacgggt gtcttcccta ggaactgact actactagac cacagtccac
     5341 taggtaatgg gtgccttccc aggcactggc attaccgcta gaccaaggag ccctctagtg
     5401 gccctgtccg ggcgtgacag aggctcacac ttgtcttctg gtcacttctc accgcg
//
LOCUS       NM_001005172            1067 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily K member 2
            (OR52K2), mRNA.
ACCESSION   NM_001005172
VERSION     NM_001005172.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1067)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC137248.1, BC137247.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000325719.4/ ENSP00000318956.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010930.9.
            On Jan 20, 2010 this sequence version replaced NM_001005172.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1067
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1067
                     /gene="OR52K2"
                     /gene_synonym="OR11-7"
                     /note="olfactory receptor family 52 subfamily K member 2"
                     /db_xref="GeneID:119774"
                     /db_xref="HGNC:HGNC:15223"
     misc_feature    19..21
                     /gene="OR52K2"
                     /gene_synonym="OR11-7"
                     /note="upstream in-frame stop codon"
     CDS             46..990
                     /gene="OR52K2"
                     /gene_synonym="OR11-7"
                     /note="olfactory receptor OR11-7"
                     /codon_start=1
                     /product="olfactory receptor 52K2"
                     /protein_id="NP_001005172.2"
                     /db_xref="CCDS:CCDS31351.1"
                     /db_xref="GeneID:119774"
                     /db_xref="HGNC:HGNC:15223"
                     /translation="MSASNITLTHPTAFLLVGIPGLEHLHIWISIPFCLAYTLALLGNC
                     TLLLIIQADAALHEPMYLFLAMLAAIDLVLSSSALPKMLAIFWFRDREINFFACLAQMF
                     FLHSFSIMESAVLLAMAFDRYVAICKPLHYTKVLTGSLITKIGMAAVARAVTLMTPLPF
                     LLRCFHYCRGPVIAHCYCEHMAVVRLACGDTSFNNIYGIAVAMFIVVLDLLLVILSYIF
                     ILQAVLLLASQEARYKAFGTCVSHIGAILAFYTTVVISSVMHRVARHAAPHVHILLANF
                     YLLFPPMVNPIIYGVKTKQIRESILGVFPRKDM"
     misc_feature    58..60
                     /gene="OR52K2"
                     /gene_synonym="OR11-7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGK3.2); glycosylation site"
     misc_feature    127..189
                     /gene="OR52K2"
                     /gene_synonym="OR11-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK3.2);
                     transmembrane region"
     misc_feature    214..276
                     /gene="OR52K2"
                     /gene_synonym="OR11-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK3.2);
                     transmembrane region"
     misc_feature    349..411
                     /gene="OR52K2"
                     /gene_synonym="OR11-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK3.2);
                     transmembrane region"
     misc_feature    469..531
                     /gene="OR52K2"
                     /gene_synonym="OR11-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK3.2);
                     transmembrane region"
     misc_feature    640..702
                     /gene="OR52K2"
                     /gene_synonym="OR11-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK3.2);
                     transmembrane region"
     misc_feature    763..825
                     /gene="OR52K2"
                     /gene_synonym="OR11-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK3.2);
                     transmembrane region"
     misc_feature    871..933
                     /gene="OR52K2"
                     /gene_synonym="OR11-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK3.2);
                     transmembrane region"
ORIGIN
        1 gggccctgtg gaagcagata aggaggaaga gaattcccag gagccatgtc agcctccaat
       61 atcaccttaa cacatccaac tgccttcttg ttggtgggga ttccaggcct ggaacacctg
      121 cacatctgga tctccatccc tttctgctta gcatatacac tggccctgct tggaaactgc
      181 actctccttc tcatcatcca ggctgatgca gccctccatg aacccatgta cctctttctg
      241 gccatgttgg cagccatcga cctggtcctt tcctcctcag cactgcccaa aatgcttgcc
      301 atattctggt tcagggatcg ggagataaac ttctttgcct gtctggccca gatgttcttc
      361 cttcactcct tctccatcat ggagtcagca gtgctgctgg ccatggcctt tgaccgctat
      421 gtggctatct gcaagccact gcactacacc aaggtcctga ctgggtccct catcaccaag
      481 attggcatgg ctgctgtggc ccgggctgtg acactaatga ctccactccc cttcctgctg
      541 agatgtttcc actactgccg aggcccagtg atcgctcact gctactgtga acacatggct
      601 gtggtgaggc tggcgtgtgg ggacactagc ttcaacaata tctatggcat cgctgtggcc
      661 atgtttattg tggtgttgga cctgctcctt gttatcctgt cttatatctt tattcttcag
      721 gcagttctac tgcttgcctc tcaggaggcc cgctacaagg catttgggac atgtgtctct
      781 catataggtg ccatcttagc cttctacaca actgtggtca tctcttcagt catgcaccgt
      841 gtagcccgcc atgctgcccc tcatgtccac atcctccttg ccaatttcta tctgctcttc
      901 ccacccatgg tcaatcccat aatctatggt gtcaagacca agcaaatccg tgagagcatc
      961 ttgggagtat tcccaagaaa ggatatgtag agggtgaggt ggagaaagaa tgggttggct
     1021 tgtctgctgg agttggagac aggctatggt agaatgtgca cggctgc
//
LOCUS       NM_001005173            1094 bp    mRNA    linear   PRI 01-JUL-2023
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily L member 1
            (OR52L1), mRNA.
ACCESSION   NM_001005173
VERSION     NM_001005173.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1094)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1094)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 1094)
  AUTHORS   Gilad Y, Bustamante CD, Lancet D and Paabo S.
  TITLE     Natural selection on the olfactory receptor gene family in humans
            and chimpanzees
  JOURNAL   Am J Hum Genet 73 (3), 489-501 (2003)
   PUBMED   12908129
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC137343.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000332249.4/ ENSP00000330338.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC111177.15 and KF570259.1.
            On Apr 9, 2014 this sequence version replaced NM_001005173.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1094
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1094
                     /gene="OR52L1"
                     /gene_synonym="OR11-50"
                     /note="olfactory receptor family 52 subfamily L member 1"
                     /db_xref="GeneID:338751"
                     /db_xref="HGNC:HGNC:14785"
     misc_feature    32..34
                     /gene="OR52L1"
                     /gene_synonym="OR11-50"
                     /note="upstream in-frame stop codon"
     CDS             56..1045
                     /gene="OR52L1"
                     /gene_synonym="OR11-50"
                     /note="olfactory receptor OR11-50"
                     /codon_start=1
                     /product="olfactory receptor 52L1"
                     /protein_id="NP_001005173.3"
                     /db_xref="CCDS:CCDS44529.1"
                     /db_xref="GeneID:338751"
                     /db_xref="HGNC:HGNC:14785"
                     /translation="MTLVSFFSFLSKPLIMLLSNSSWRLSQPSFLLVGIPGLEESQHWI
                     ALPLGILYLLALVGNVTILFIIWMDPSLHQSMYLFLSMLAAIDLVLASSTAPKALAVLL
                     VHAHEIGYIVCLIQMFFIHAFSSMESGVLVAMALDRYVAICHPLHHSTILHPGVIGRIG
                     MVVLVRGLLLLIPFPILLGTLIFCQATIIGHAYCEHMAVVKLACSETTVNRAYGLTMAL
                     LVIGLDVLAIGVSYAHILQAVLKVPGSEARLKAFSTCGSHICVILVFYVPGIFSFLTHR
                     FGHHVPHHVHVLLATRYLLMPPALNPLVYGVKTQQIRQRVLRVFTQKD"
     misc_feature    113..115
                     /gene="OR52L1"
                     /gene_synonym="OR11-50"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGH7.5); glycosylation site"
     misc_feature    185..247
                     /gene="OR52L1"
                     /gene_synonym="OR11-50"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH7.5);
                     transmembrane region"
     misc_feature    272..334
                     /gene="OR52L1"
                     /gene_synonym="OR11-50"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH7.5);
                     transmembrane region"
     misc_feature    407..469
                     /gene="OR52L1"
                     /gene_synonym="OR11-50"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH7.5);
                     transmembrane region"
     misc_feature    527..589
                     /gene="OR52L1"
                     /gene_synonym="OR11-50"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH7.5);
                     transmembrane region"
     misc_feature    698..760
                     /gene="OR52L1"
                     /gene_synonym="OR11-50"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH7.5);
                     transmembrane region"
     misc_feature    821..883
                     /gene="OR52L1"
                     /gene_synonym="OR11-50"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH7.5);
                     transmembrane region"
     misc_feature    929..991
                     /gene="OR52L1"
                     /gene_synonym="OR11-50"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH7.5);
                     transmembrane region"
ORIGIN
        1 ggatgatggt tgccccattt ggacaatgtg ataatgtagc aggaatgcag aaatcatgac
       61 tttggtttct tttttctctt tcctctccaa gccattgata atgctcctta gcaattcaag
      121 ctggaggcta tcccagcctt cttttctcct ggtagggatt ccaggtttag aggaaagcca
      181 gcactggatt gcactgcccc tgggcatcct ttacctcctt gctttagtgg gcaatgttac
      241 cattctcttc atcatctgga tggacccatc cttgcaccaa tctatgtacc tcttcctgtc
      301 catgctagct gccatcgacc tggttctggc ctcctccact gcacccaaag cccttgcagt
      361 gctcctggtt catgcccacg agattgggta catcgtctgc ctgatccaga tgttcttcat
      421 ccatgcattc tcctccatgg agtcaggggt acttgtggcc atggctctgg atcgctatgt
      481 agccatttgt caccccttgc accattccac aatcctgcat ccaggggtca tagggcgcat
      541 cggaatggtg gtgctggtga ggggattact actccttatc cccttcccca ttttgttggg
      601 aacacttatc ttctgccaag ccaccatcat aggccatgcc tattgtgaac atatggctgt
      661 tgtgaaactt gcctgctcag aaaccacagt caatcgagct tatgggctga ctatggcctt
      721 gcttgtgatt gggctggatg ttctggccat tggtgtttcc tatgcccaca tcctccaggc
      781 agtgctgaag gtaccaggga gtgaggcccg acttaaggcg tttagcacat gtggctctca
      841 tatttgtgtc atcctggtct tctatgtccc tggaattttc tccttcctca ctcaccgctt
      901 tggtcatcat gtaccccatc atgtccatgt tcttctggcc acacggtatc tcctcatgcc
      961 acctgcgctc aatcctcttg tctatggagt gaagactcag cagatccgcc agcgagtgct
     1021 cagagtgttt acacaaaagg attgatctga acatattctc attgtttcct tcggaggctt
     1081 cttctgcgga ccac
//
LOCUS       NM_001005174            1333 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily N member 2
            (OR52N2), mRNA.
ACCESSION   NM_001005174
VERSION     NM_001005174.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1333)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.381044.1,
            DRR138512.450232.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148874,
            SAMEA2151119 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000317037.3/ ENSP00000322801.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131574.4.
            On Dec 11, 2020 this sequence version replaced NM_001005174.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1333
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1333
                     /gene="OR52N2"
                     /gene_synonym="OR11-57"
                     /note="olfactory receptor family 52 subfamily N member 2"
                     /db_xref="GeneID:390077"
                     /db_xref="HGNC:HGNC:15228"
     misc_feature    159..161
                     /gene="OR52N2"
                     /gene_synonym="OR11-57"
                     /note="upstream in-frame stop codon"
     CDS             186..1151
                     /gene="OR52N2"
                     /gene_synonym="OR11-57"
                     /note="olfactory receptor OR11-57"
                     /codon_start=1
                     /product="olfactory receptor 52N2"
                     /protein_id="NP_001005174.1"
                     /db_xref="CCDS:CCDS31399.1"
                     /db_xref="GeneID:390077"
                     /db_xref="HGNC:HGNC:15228"
                     /translation="MSGDNSSSLTPGFFILNGVPGLEATHIWISLPFCFMYIIAVVGNC
                     GLICLISHEEALHRPMYYFLALLSFTDVTLCTTMVPNMLCIFWFNLKEIDFNACLAQMF
                     FVHMLTGMESGVLMLMALDRYVAICYPLRYATILTNPVIAKAGLATFLRNVMLIIPFTL
                     LTKRLPYCRGNFIPHTYCDHMSVAKVSCGNFKVNAIYGLMVALLIGVFDICCISVSYTM
                     ILQAVMSLSSADARHKAFSTCTSHMCSIVITYVAAFFTFFTHRFVGHNIPNHIHIIVAN
                     LYLLLPPTMNPIVYGVKTKQIQEGVIKFLLGDKVSFTYDK"
     misc_feature    198..200
                     /gene="OR52N2"
                     /gene_synonym="OR11-57"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGI0.1); glycosylation site"
     misc_feature    267..329
                     /gene="OR52N2"
                     /gene_synonym="OR11-57"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI0.1);
                     transmembrane region"
     misc_feature    354..416
                     /gene="OR52N2"
                     /gene_synonym="OR11-57"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI0.1);
                     transmembrane region"
     misc_feature    489..551
                     /gene="OR52N2"
                     /gene_synonym="OR11-57"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI0.1);
                     transmembrane region"
     misc_feature    609..671
                     /gene="OR52N2"
                     /gene_synonym="OR11-57"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI0.1);
                     transmembrane region"
     misc_feature    780..842
                     /gene="OR52N2"
                     /gene_synonym="OR11-57"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI0.1);
                     transmembrane region"
     misc_feature    903..965
                     /gene="OR52N2"
                     /gene_synonym="OR11-57"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI0.1);
                     transmembrane region"
     misc_feature    1014..1076
                     /gene="OR52N2"
                     /gene_synonym="OR11-57"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI0.1);
                     transmembrane region"
     regulatory      1285..1290
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR52N2"
                     /gene_synonym="OR11-57"
                     /note="hexamer: AATAAA"
     polyA_site      1305
                     /gene="OR52N2"
                     /gene_synonym="OR11-57"
                     /note="major polyA site"
ORIGIN
        1 ggtcaccgcg gtattgcaag cctctcctcc tcgcgttgct gagagtccga gtttattcat
       61 cacaatgggt gggtcccgat ctcccctccc tgagactacc gcaacggggc attggaatgc
      121 gtctcccctg ggcagaaagc aatggctgct aaagagtata aaatgctctc ctcctgtcag
      181 ccatcatgtc tggggacaac agctccagcc tgaccccagg attctttatc ttgaatggcg
      241 ttcctgggct ggaagccaca cacatctgga tctccctgcc attctgcttt atgtacatca
      301 ttgctgtcgt ggggaactgt gggctcatct gcctcatcag ccatgaggag gccctgcacc
      361 ggcccatgta ctacttcctg gccctgctct ccttcactga tgtcaccttg tgcaccacca
      421 tggtacctaa tatgctgtgc atattctggt tcaacctcaa ggagattgac tttaacgcct
      481 gcctggccca gatgtttttt gtccatatgc tgacagggat ggagtctggg gtgctcatgc
      541 tcatggccct ggaccgctat gtggccatct gctacccctt acgctatgcc accatcctta
      601 ccaaccctgt catcgccaag gctggtcttg ccaccttctt gaggaatgtg atgctcatca
      661 tcccattcac tctcctcacc aagcgcctgc cctattgccg ggggaacttc atcccccaca
      721 cctactgtga ccatatgtct gtggccaagg tatcctgtgg caatttcaag gtcaatgcta
      781 tttatggtct gatggttgct ctcctgattg gtgtgtttga tatctgctgt atctctgtat
      841 cttacactat gattttgcag gctgttatga gcctgtcatc agcagatgct cgtcacaaag
      901 ccttcagcac ctgcacatct cacatgtgtt ccattgtgat cacctatgtt gctgcttttt
      961 tcactttttt cactcatcgt tttgtaggac acaatatccc aaaccacata cacatcatcg
     1021 tggccaacct ttatctgcta ctgcctccta ccatgaaccc aattgtttat ggagtcaaga
     1081 ccaagcagat tcaggaaggt gtaattaaat ttttacttgg agacaaggtt agttttacct
     1141 atgacaaatg aaacatagaa tagacatatt gtttcaggtg gtgagaaaat aatggagaca
     1201 aaatttcata aaagatgtga ataaaatggt attaaaatca tgacatgtaa tttacccatg
     1261 taacaaactt gcacgtgtac ctaaaataaa aatagaaata aaaaatcaaa ataaagacat
     1321 aaatttgtaa gtc
//
LOCUS       NM_001005175            1329 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily N member 4
            (OR52N4), mRNA.
ACCESSION   NM_001005175
VERSION     NM_001005175.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1329)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2145245,
            SAMEA2151119 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641350.2/ ENSP00000493338.1
            polymorphic pseudogene :: based on alignments, homology
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131574.4.
            On Aug 30, 2020 this sequence version replaced NM_001005175.4.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1329
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1329
                     /gene="OR52N4"
                     /gene_synonym="OR11-64"
                     /note="olfactory receptor family 52 subfamily N member 4"
                     /db_xref="GeneID:390072"
                     /db_xref="HGNC:HGNC:15230"
     misc_feature    94..96
                     /gene="OR52N4"
                     /gene_synonym="OR11-64"
                     /note="upstream in-frame stop codon"
     CDS             112..1077
                     /gene="OR52N4"
                     /gene_synonym="OR11-64"
                     /note="olfactory receptor OR11-64"
                     /codon_start=1
                     /product="olfactory receptor 52N4"
                     /protein_id="NP_001005175.3"
                     /db_xref="CCDS:CCDS44528.1"
                     /db_xref="GeneID:390072"
                     /db_xref="HGNC:HGNC:15230"
                     /translation="MLTLNKTDLIPASFILNGVPGLEDTQLWISFPFCSMYVVAMVGNC
                     GLLYLIHYEDALHKPMYYFLAMLSFTDLVMCSSTIPKALCIFWFHLKDIGFDECLVQMF
                     FTHTFTGMESGVLMLMALDRYVAICYPLRYSTILTNPVIAKVGTATFLRGVLLIIPFTF
                     LTKLLPYCRGNILPHTYCDHMSVAKLSCGNVKVNAIYGLMVALLIWGFDILCITNSYTM
                     ILRAVVSLSSADARQKAFNTCTAHICAIVFSYTPAFFSFFSHRFGEHIIPPSCHIIVAN
                     IYLLLPPTMNPIVYGVKTKQIRDCVIRILSGSKDTKSYSM"
     misc_feature    124..126
                     /gene="OR52N4"
                     /gene_synonym="OR11-64"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGI2.2); glycosylation site"
     misc_feature    193..255
                     /gene="OR52N4"
                     /gene_synonym="OR11-64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI2.2);
                     transmembrane region"
     misc_feature    280..342
                     /gene="OR52N4"
                     /gene_synonym="OR11-64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI2.2);
                     transmembrane region"
     misc_feature    415..477
                     /gene="OR52N4"
                     /gene_synonym="OR11-64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI2.2);
                     transmembrane region"
     misc_feature    535..597
                     /gene="OR52N4"
                     /gene_synonym="OR11-64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI2.2);
                     transmembrane region"
     misc_feature    706..768
                     /gene="OR52N4"
                     /gene_synonym="OR11-64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI2.2);
                     transmembrane region"
     misc_feature    829..891
                     /gene="OR52N4"
                     /gene_synonym="OR11-64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI2.2);
                     transmembrane region"
     misc_feature    940..1002
                     /gene="OR52N4"
                     /gene_synonym="OR11-64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI2.2);
                     transmembrane region"
     regulatory      1304..1309
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR52N4"
                     /gene_synonym="OR11-64"
                     /note="hexamer: ATTAAA"
     polyA_site      1329
                     /gene="OR52N4"
                     /gene_synonym="OR11-64"
                     /note="major polyA site"
ORIGIN
        1 tcagtcagtc attaagaata aaaattaaaa agtcaacatc tcatctctca gatcatcagt
       61 gaggaaagcc cagacaaatt ttgagctatt tcataaccta ccagacttat catgctaaca
      121 ctgaataaaa cagacctaat accagcttca tttattctga atggagtccc aggactggaa
      181 gacacacaac tctggatttc cttcccattc tgctctatgt atgttgtggc tatggtaggg
      241 aattgtggac tcctctacct cattcactat gaggatgccc tgcacaaacc catgtactac
      301 ttcttggcca tgctttcctt tactgacctt gttatgtgct ctagtacaat ccctaaagcc
      361 ctctgcatct tctggtttca tctcaaggac attggatttg atgaatgcct tgtccagatg
      421 ttcttcaccc acaccttcac agggatggag tctggggtgc ttatgcttat ggccctggat
      481 cgctatgtgg ccatctgcta ccccttacgc tattcaacta tcctcaccaa tcctgtaatt
      541 gcaaaggttg ggactgccac cttcctgaga ggggtattac tcattattcc ctttactttc
      601 ctcaccaagc tcctgcccta ctgcagaggc aatatacttc cccataccta ctgtgaccac
      661 atgtctgtag ccaaattgtc ctgtggtaat gtcaaggtca atgccatcta tggtctgatg
      721 gttgccctcc tgatttgggg ctttgacata ctgtgtatca ccaactccta taccatgatt
      781 ctccgggcag tggtcagcct ctcctcagca gatgctcggc agaaggcctt taatacctgc
      841 actgcccaca tttgtgccat tgttttctcc tatactccag ctttcttctc cttcttttcc
      901 caccgctttg gggaacacat aatcccccct tcttgccaca tcattgtagc caatatttat
      961 ctgctcctac cacccactat gaaccctatt gtctatgggg tgaaaaccaa acagatacga
     1021 gactgtgtca taaggatcct ttcaggttct aaggatacca aatcctacag catgtgaatg
     1081 aacacttgcc aggagtgaga agagaaggaa agaattactt ctatttgcct cttatgcagg
     1141 agttcataaa atctttctgg aagcactgta ttgatcacaa aatggagttt gttaactggt
     1201 gcattctcaa taagtacctt gggaatctca acatcattgg aaggcccacc aacatttcta
     1261 taaatttttt accttctcac tcatgtgaag gaccagtcta ataattaaac catattttat
     1321 tcgacaaaa
//
LOCUS       NM_001005177             948 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily R member 1
            (OR52R1), mRNA.
ACCESSION   NM_001005177
VERSION     NM_001005177.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 948)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 948)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 948)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000624978.1/ ENSP00000485292.1
            polymorphic pseudogene :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC103710.2.
            On Dec 15, 2009 this sequence version replaced NM_001005177.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be non-functional as an olfactory receptor
            according to the Classifier for Olfactory Receptor Pseudogenes.
            This RefSeq was derived from genomic sequence to make the sequence
            consistent with the reference genome assembly. The genomic
            coordinates used for the transcript record were based on
            alignments.
FEATURES             Location/Qualifiers
     source          1..948
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..948
                     /gene="OR52R1"
                     /gene_synonym="OR11-22"
                     /note="olfactory receptor family 52 subfamily R member 1"
                     /db_xref="GeneID:119695"
                     /db_xref="HGNC:HGNC:15235"
     CDS             1..948
                     /gene="OR52R1"
                     /gene_synonym="OR11-22"
                     /note="olfactory receptor OR11-22"
                     /codon_start=1
                     /product="olfactory receptor 52R1"
                     /protein_id="NP_001005177.3"
                     /db_xref="GeneID:119695"
                     /db_xref="HGNC:HGNC:15235"
                     /translation="MVLASGNSSSHPVSFILLGIPGLESFQLWIAFPFCATYAVAVVGN
                     ITLLHVIRIDHTLHEPMYLFLAMLAITDLVLSSSTQPKMLAIFWFHAHEIQYHACLIQV
                     FFIHAFSSVESGVLMAMALDCYVAICFPLRHSSILTPSVVIKLGTIVMLRGLLWVSPFC
                     FMVSRMPFCQHQAIPQSYCEHMAVLKLVCADTSISRGNGLFVAFSVAGFDMIVIGMSYV
                     MILRAVLQLPSGEARLKAFSTRSSHICVILALYIPALFSFLTYRFGHDVPRVVHILFAN
                     LYLLIPPMLNPIIYGVRTKQIGDRVIQGCCGNIP"
     misc_feature    19..21
                     /gene="OR52R1"
                     /gene_synonym="OR11-22"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGF1.2); glycosylation site"
     misc_feature    85..147
                     /gene="OR52R1"
                     /gene_synonym="OR11-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF1.2);
                     transmembrane region"
     misc_feature    172..234
                     /gene="OR52R1"
                     /gene_synonym="OR11-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF1.2);
                     transmembrane region"
     misc_feature    307..369
                     /gene="OR52R1"
                     /gene_synonym="OR11-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF1.2);
                     transmembrane region"
     misc_feature    427..489
                     /gene="OR52R1"
                     /gene_synonym="OR11-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF1.2);
                     transmembrane region"
     misc_feature    598..660
                     /gene="OR52R1"
                     /gene_synonym="OR11-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF1.2);
                     transmembrane region"
     misc_feature    721..783
                     /gene="OR52R1"
                     /gene_synonym="OR11-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF1.2);
                     transmembrane region"
     misc_feature    829..891
                     /gene="OR52R1"
                     /gene_synonym="OR11-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF1.2);
                     transmembrane region"
ORIGIN
        1 atggtgctgg cttcagggaa cagctcttct catcctgtgt ccttcatcct gcttggaatc
       61 ccaggcctgg agagtttcca gttgtggatt gcctttccgt tctgtgccac gtatgctgtg
      121 gctgttgttg gaaatatcac tctcctccat gtaatcagaa ttgaccacac cctgcatgag
      181 cccatgtacc tctttctggc catgctggcc atcactgacc tggtcctctc ctcctccact
      241 caacctaaga tgttggccat attctggttt catgctcatg agattcagta ccatgcctgc
      301 ctcatccagg tgttcttcat ccatgccttt tcttctgtgg agtctggggt gctcatggct
      361 atggccctgg actgctacgt ggctatctgc ttcccactcc gacactctag catcctgacc
      421 ccatcggtcg tgatcaaact ggggaccatc gtgatgctga gagggctgct gtgggtgagc
      481 cccttctgct tcatggtgtc taggatgccc ttctgccaac accaagccat tccccagtca
      541 tactgtgagc acatggctgt gctgaagttg gtgtgtgctg atacaagcat aagtcgtggg
      601 aatgggctct ttgtggcctt ctctgtggct ggctttgata tgattgtcat tggtatgtca
      661 tacgtgatga ttttgagagc tgtgcttcag ttgccctcag gtgaagcccg cctcaaagct
      721 tttagcacac gttcctccca tatctgtgtc atcttggctc tttatatccc agcccttttt
      781 tctttcctca cctaccgctt tggccatgat gtgccccgag ttgtacacat cctgtttgct
      841 aatctctatc tactgatacc tcccatgctc aaccccatca tttatggagt tagaaccaaa
      901 cagatcgggg acagggttat ccaaggatgt tgtggaaaca tcccctga
//
LOCUS       NM_001005178             963 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily W member 1
            (OR52W1), mRNA.
ACCESSION   NM_001005178
VERSION     NM_001005178.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 963)
  AUTHORS   Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd
            C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E,
            Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K,
            Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC,
            Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES and
            Sakaki Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
REFERENCE   2  (bases 1 to 963)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311352.3/ ENSP00000309673.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065511.1.
            On Sep 22, 2004 this sequence version replaced XM_062263.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..963
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..963
                     /gene="OR52W1"
                     /gene_synonym="OR11-71; OR52W1P"
                     /note="olfactory receptor family 52 subfamily W member 1"
                     /db_xref="GeneID:120787"
                     /db_xref="HGNC:HGNC:15239"
     CDS             1..963
                     /gene="OR52W1"
                     /gene_synonym="OR11-71; OR52W1P"
                     /note="olfactory receptor, family 52, subfamily W, member 1
                     pseudogene; olfactory receptor OR11-71"
                     /codon_start=1
                     /product="olfactory receptor 52W1"
                     /protein_id="NP_001005178.1"
                     /db_xref="CCDS:CCDS31407.1"
                     /db_xref="GeneID:120787"
                     /db_xref="HGNC:HGNC:15239"
                     /translation="MAETLQLNSTFLHPNFFILTGFPGLGSAQTWLTLVFGPIYLLALL
                     GNGALPAVVWIDSTLHQPMFLLLAILAATDLGLATSIAPGLLAVLWLGPRSVPYAVCLV
                     QMFFVHALTAMESGVLLAMACDRAAAIGRPLHYPVLVTKACVGYAALALALKAVAIVVP
                     FPLLVAKFEHFQAKTIGHTYCAHMAVVELVVGNTQATNLYGLALSLAISGMDILGITGS
                     YGLIAHAVLQLPTREAHAKAFGTCSSHICVILAFYIPGLFSYLTHRFGHHTVPKPVHIL
                     LSNIYLLLPPALNPLIYGARTKQIRDRLLETFTFRKSPL"
     misc_feature    22..24
                     /gene="OR52W1"
                     /gene_synonym="OR11-71; OR52W1P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6IF63.2); glycosylation site"
     misc_feature    91..153
                     /gene="OR52W1"
                     /gene_synonym="OR11-71; OR52W1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF63.2);
                     transmembrane region"
     misc_feature    178..240
                     /gene="OR52W1"
                     /gene_synonym="OR11-71; OR52W1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF63.2);
                     transmembrane region"
     misc_feature    313..375
                     /gene="OR52W1"
                     /gene_synonym="OR11-71; OR52W1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF63.2);
                     transmembrane region"
     misc_feature    433..495
                     /gene="OR52W1"
                     /gene_synonym="OR11-71; OR52W1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF63.2);
                     transmembrane region"
     misc_feature    604..666
                     /gene="OR52W1"
                     /gene_synonym="OR11-71; OR52W1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF63.2);
                     transmembrane region"
     misc_feature    727..789
                     /gene="OR52W1"
                     /gene_synonym="OR11-71; OR52W1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF63.2);
                     transmembrane region"
     misc_feature    838..900
                     /gene="OR52W1"
                     /gene_synonym="OR11-71; OR52W1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF63.2);
                     transmembrane region"
ORIGIN
        1 atggcagaaa ctctacaact caattccacc ttcctacacc caaacttctt catactgact
       61 ggctttccag ggctaggaag tgcccagact tggctgacac tggtctttgg gcccatttat
      121 ctgctggccc tgctgggcaa tggagcactg ccggcagtgg tgtggataga ctccacactg
      181 caccagccca tgtttctact gttggccatc ctggcagcca cagacctggg cttagccaca
      241 tctatagccc cagggttgct ggctgtgctg tggcttgggc cccgatctgt gccatatgct
      301 gtgtgcctgg tccagatgtt ctttgtacat gcactgactg ccatggaatc aggtgtgctt
      361 ttggccatgg cctgtgatcg tgctgcggca atagggcgtc cactgcacta ccctgtcctg
      421 gtcaccaaag cctgtgtggg ttatgcagcc ttggccctgg cactgaaagc tgtggctatt
      481 gttgtacctt tcccactgct ggtggcaaag tttgagcact tccaagccaa gaccataggc
      541 catacctatt gtgcacacat ggcagtggta gaactggtgg tgggtaacac acaggccacc
      601 aacttatatg gtctggcact ttcactggcc atctcaggta tggatattct gggtatcact
      661 ggctcctatg gactcattgc ccatgctgtg ctgcagctac ctacccggga ggcccatgcc
      721 aaggcctttg gtacatgtag ttctcacatc tgtgtcattc tggccttcta catacctggt
      781 ctcttctcct acctcacaca ccgctttggt catcacactg tcccaaagcc tgtgcacatc
      841 cttctctcca acatctactt gctgctgcca cctgccctca accccctcat ctatggggcc
      901 cgcaccaagc agatcagaga ccgactcctg gaaaccttca cattcagaaa aagcccgttg
      961 taa
//
LOCUS       NM_001005179            3768 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 56 subfamily A member 4
            (OR56A4), mRNA.
ACCESSION   NM_001005179
VERSION     NM_001005179.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3768)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641156.1/ ENSP00000492932.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC111177.15.
            On Jul 28, 2020 this sequence version replaced NM_001005179.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..3768
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..3768
                     /gene="OR56A4"
                     /gene_synonym="OR11-49"
                     /note="olfactory receptor family 56 subfamily A member 4"
                     /db_xref="GeneID:120793"
                     /db_xref="HGNC:HGNC:14791"
     misc_feature    113..115
                     /gene="OR56A4"
                     /gene_synonym="OR11-49"
                     /note="upstream in-frame stop codon"
     CDS             221..1162
                     /gene="OR56A4"
                     /gene_synonym="OR11-49"
                     /note="olfactory receptor OR11-49"
                     /codon_start=1
                     /product="olfactory receptor 56A4"
                     /protein_id="NP_001005179.3"
                     /db_xref="CCDS:CCDS31404.2"
                     /db_xref="GeneID:120793"
                     /db_xref="HGNC:HGNC:14791"
                     /translation="MASPSNDSTAPVSEFLLICFPNFQSWQHWLSLPLSLLFLLAMGAN
                     TTLLITIQLEASLHQPLYYLLSLLSLLDIVLCLTVIPKVLAIFWFDLRSISFPACFLQM
                     FIMNSFLTMESCTFMVMAYDRYVAICHPLRYPSIITDQFVARAVVFVIARNAFVSLPVP
                     MLSARLRYCAGNIIKNCICSNLSVSKLSCDDITFNQLYQFVAGWTLLGSDLILIVISYS
                     FILKVVLRIKAEGAVAKALSTCGSHFILILFFSTVLLVLVITNLARKRIPPDVPILLNI
                     LHHLIPPALNPIVYGVRTKEIKQGIQNLLKRL"
     misc_feature    236..238
                     /gene="OR56A4"
                     /gene_synonym="OR11-49"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGH8.2); glycosylation site"
     misc_feature    305..367
                     /gene="OR56A4"
                     /gene_synonym="OR11-49"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH8.2);
                     transmembrane region"
     misc_feature    392..454
                     /gene="OR56A4"
                     /gene_synonym="OR11-49"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH8.2);
                     transmembrane region"
     misc_feature    527..589
                     /gene="OR56A4"
                     /gene_synonym="OR11-49"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH8.2);
                     transmembrane region"
     misc_feature    647..709
                     /gene="OR56A4"
                     /gene_synonym="OR11-49"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH8.2);
                     transmembrane region"
     misc_feature    770..772
                     /gene="OR56A4"
                     /gene_synonym="OR11-49"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGH8.2); glycosylation site"
     misc_feature    818..880
                     /gene="OR56A4"
                     /gene_synonym="OR11-49"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH8.2);
                     transmembrane region"
     misc_feature    941..1003
                     /gene="OR56A4"
                     /gene_synonym="OR11-49"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH8.2);
                     transmembrane region"
     misc_feature    1049..1111
                     /gene="OR56A4"
                     /gene_synonym="OR11-49"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGH8.2);
                     transmembrane region"
ORIGIN
        1 aatagcagca gtacagcctt ctgaatttgt ctagggtatg aactgatgga gttggcatac
       61 tgaagatcga aaacaatgcc ccagatggtc aacaattctt catttctcag attaggaggc
      121 ctcaatttca ctaaggaaaa ttcagaggga ggaaaaatca ttccagctat taaggaatta
      181 caaggtacac tgggtctcca gattgatcag gaaactttac atggcatctc ccagcaatga
      241 ctccactgcc ccagtctctg aattcctcct catctgcttc cccaacttcc agagctggca
      301 gcactggttg tctctgcccc tcagccttct cttcctcctg gccatgggag ctaacaccac
      361 cctcctgatc accatccagc tggaggcctc tctgcaccag cccctgtact acctgctcag
      421 cctcctctcc ctgctggaca tcgtgctctg cctcaccgtc atccccaagg tcctggccat
      481 cttctggttt gacctcaggt cgatcagctt cccagcctgc ttcctccaga tgttcatcat
      541 gaacagtttt ttgaccatgg agtcctgcac gttcatggtc atggcctatg accgttatgt
      601 ggccatctgc catccattga gatacccgtc tatcatcact gaccagtttg tggctagggc
      661 cgtggtcttt gttatagccc ggaatgcctt tgtttctctt cctgttccca tgctttctgc
      721 caggctcaga tactgtgcag gaaacataat caagaactgc atctgcagta acctgtctgt
      781 gtccaaactc tcttgtgatg acatcacttt caatcagctc taccagtttg tggcaggctg
      841 gactctgttg ggctctgatc ttatccttat tgttatctcc tattctttta tattgaaagt
      901 tgtgcttagg atcaaggccg agggtgctgt ggccaaggcc ttgagcacgt gtggttccca
      961 cttcatcctc atcctcttct tcagcacagt cctgctggtt ctggtcatca ctaacctggc
     1021 caggaagaga attcctccag atgtccccat cctgctcaac atcctgcacc acctcattcc
     1081 cccagctctg aaccccattg tttatggtgt gagaaccaag gagatcaagc agggaatcca
     1141 aaacctgctg aagaggttgt aagaataaaa aggattagat ccacctttag agttgttaat
     1201 tgttagtgaa aattgggaaa tagggaatta attttatgtt ggaaaggaaa tttcacttta
     1261 aatcctgcct gagttcggat tcttctgttc tcaatatctc aggcaacaat gaacacattt
     1321 atttgtgaat ctttgttttc tgttgcttga aaggaaacct cccttttctg gattctatgg
     1381 ttactttgga atttttcctg atctaatctg caacaaagaa tcttgccaag actttgacaa
     1441 atggagctgt attagaatgg aagtgtttga ccactaaaga aacaaacttt atataatgcc
     1501 cttaaaaaga tcagcctgtt ttttgatttg caaatgacac tgattccttc cctgtctctg
     1561 attcagcctg gtagacggct acctggcttg tgtgcgatga aggcatggct tgggttaagt
     1621 ccagatgtcc accctggaac aacttggggt tgagtgcctt gccctgaata ccccgactct
     1681 cttccatggc acctgaggca gatgtgctat tcactggctc ctaaaattct cctagaccca
     1741 attaagatat tcagtctgta ccacctctct gagggcagcg ttttctattc tttctctcta
     1801 cttagatttt ctttcttcag tttttggttt gtaaatgagg ttgataaagt tttaggattt
     1861 ttaggttggg gaggagttgt actgtttgaa gtgctgtatg ttcttttctt catcatcttc
     1921 atcttcatgt cgttataatc ctagttccta tctcaccttg aagtccccat cctaggcaca
     1981 aatgagccat cctgttcatt ccctctgatg ctgtttgctg catcctccct cctgagctgt
     2041 ggctggcaaa gctgccaaca gtttcccaga catgaaagtt ctaggtttgt ttttcacaga
     2101 atagtgtatt ctactatttt ggcatttcct tcttaatgat gccacacagt tcagtatctc
     2161 caaggaatat aaacagtctt aatctgtctc ttttggggat gcaaattcag atttcaagtc
     2221 catcatttgt ccaggcattg tttgacaact gtcccaactg gactatccta cttccatttg
     2281 tactgaagct tatctttgct gaatgacttg cattaaaata aatatctcta cagtgtttaa
     2341 aatgtttaat atgttacagc attttttatt acagacctgc tatattctag ccctaacata
     2401 ctttcgactt atcttaaact ttgttttctc tgccactgta gccaaaatga gctgctcatt
     2461 atttcttgaa aattacttat tcccattttg ctctctctct tcaatcattt gatgcttctc
     2521 acatcagcct tcttttacca ttatcaccat ttgccaaacc ccatctttcc taccaggttt
     2581 ttttattttt tattttttta ttatgtttta agttttagag tacatgtgca caatgtgcag
     2641 gtttgttaca tatgtataca tgtgccatgt tggcgtgctg cacccattaa ctcgtcattt
     2701 aacattaggt atatctccta atgctatccc tccccactcc ccctaaccca caacagtccc
     2761 cggtgtgtga tgttcccctt cctgtgtcca tgtgttctca ttgttcaact cccacctatg
     2821 agtgagaaaa tgcggtgttt ggttttttgt ccttgcgata gtttgctgag aatgatggtt
     2881 tccagcttca tccatgtccc taccaaggac atgaactcat cattttttat ggctgcatag
     2941 tattccatgg tgtagatgtg ccacattttc ttaatccagt ctaccattgt tggacatttg
     3001 gcttggttcc aagtctttgc tattgtgaat ggtgccgcaa taaacataca tgtgcatgtg
     3061 tctttatagc agcatgattt ataatccttt gggtatgtac ccagtaatgg gatggctggg
     3121 tcaaatggta tttctagttc tagatccctg aggaatctcc acactgactt ccacaatggt
     3181 tgaactagtt tacagtgcca ccaacagtgt aaaagtgttc ctatttctcc acatcctctc
     3241 cagcacctgt tgtttccttc ctaccaggtt gaattcaaat gccatctccc acagtaggtc
     3301 ttccttccct gatcctcccg actggaatca ttattcttgc atcttgtgtg gctgtatttc
     3361 tttctctgac actgtcataa gcttctttta ggttgagagt attttattca tctttaaaat
     3421 tctgcatggc tacttttact gtctcttata catacagata aatttaaaat aaaaatgtgt
     3481 tgaacaaaat ctgtagaaca ttttataagt gatctctcat ctctcatttt ctttaataac
     3541 tacttggaaa caacaataaa atcttatact attatatgtc cttatagtac ctaacagaga
     3601 gccatatttt tagccagcac aaaatgaacc tttatatagt gaagaccatt aggattgaga
     3661 cagtctggag aactggaatt ttattctcag ataaaataat ttggctaaat ttgtgtactc
     3721 cgcttttgtg aactttggtt aaactcataa attctggctt aattacct
//
LOCUS       NM_001005180            2076 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 56 subfamily B member 1
            (OR56B1), mRNA.
ACCESSION   NM_001005180
VERSION     NM_001005180.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2076)
  AUTHORS   Denoeud F, Kapranov P, Ucla C, Frankish A, Castelo R, Drenkow J,
            Lagarde J, Alioto T, Manzano C, Chrast J, Dike S, Wyss C, Henrichsen
            CN, Holroyd N, Dickson MC, Taylor R, Hance Z, Foissac S, Myers RM,
            Rogers J, Hubbard T, Harrow J, Guigo R, Gingeras TR, Antonarakis SE
            and Reymond A.
  TITLE     Prominent use of distal 5' transcription start sites and discovery
            of a large number of additional exons in ENCODE regions
  JOURNAL   Genome Res 17 (6), 746-759 (2007)
   PUBMED   17567994
REFERENCE   2  (bases 1 to 2076)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AK122668.1, BC137184.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000317121.6/ ENSP00000322939.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK122668.1 and AC131574.4.
            On May 17, 2019 this sequence version replaced NM_001005180.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..2076
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..2076
                     /gene="OR56B1"
                     /gene_synonym="OR11-65; OR56B1P"
                     /note="olfactory receptor family 56 subfamily B member 1"
                     /db_xref="GeneID:387748"
                     /db_xref="HGNC:HGNC:15245"
     misc_feature    64..66
                     /gene="OR56B1"
                     /gene_synonym="OR11-65; OR56B1P"
                     /note="upstream in-frame stop codon"
     CDS             70..1044
                     /gene="OR56B1"
                     /gene_synonym="OR11-65; OR56B1P"
                     /note="olfactory receptor, family 56, subfamily B, member 1
                     pseudogene; olfactory receptor OR11-65"
                     /codon_start=1
                     /product="olfactory receptor 56B1"
                     /protein_id="NP_001005180.1"
                     /db_xref="CCDS:CCDS31395.1"
                     /db_xref="GeneID:387748"
                     /db_xref="HGNC:HGNC:15245"
                     /translation="MNHMSASLKISNSSKFQVSEFILLGFPGIHSWQHWLSLPLALLYL
                     SALAANTLILIIIWQNPSLQQPMYIFLGILCMVDMGLATTIIPKILAIFWFDAKVISLP
                     ECFAQIYAIHFFVGMESGILLCMAFDRYVAICHPLRYPSIVTSSLILKATLFMVLRNGL
                     FVTPVPVLAAQRDYCSKNEIEHCLCSNLGVTSLACDDRRPNSICQLVLAWLGMGSDLSL
                     IILSYILILYSVLRLNSAEAAAKALSTCSSHLTLILFFYTIVVVISVTHLTEMKATLIP
                     VLLNVLHNIIPPSLNPTVYALQTKELRAAFQKVLFALTKEIRS"
     misc_feature    103..105
                     /gene="OR56B1"
                     /gene_synonym="OR11-65; OR56B1P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGI3.2); glycosylation site"
     misc_feature    172..234
                     /gene="OR56B1"
                     /gene_synonym="OR11-65; OR56B1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI3.2);
                     transmembrane region"
     misc_feature    259..321
                     /gene="OR56B1"
                     /gene_synonym="OR11-65; OR56B1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI3.2);
                     transmembrane region"
     misc_feature    394..456
                     /gene="OR56B1"
                     /gene_synonym="OR11-65; OR56B1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI3.2);
                     transmembrane region"
     misc_feature    514..576
                     /gene="OR56B1"
                     /gene_synonym="OR11-65; OR56B1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI3.2);
                     transmembrane region"
     misc_feature    685..747
                     /gene="OR56B1"
                     /gene_synonym="OR11-65; OR56B1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI3.2);
                     transmembrane region"
     misc_feature    808..870
                     /gene="OR56B1"
                     /gene_synonym="OR11-65; OR56B1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI3.2);
                     transmembrane region"
     misc_feature    913..975
                     /gene="OR56B1"
                     /gene_synonym="OR11-65; OR56B1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI3.2);
                     transmembrane region"
     regulatory      2056..2061
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR56B1"
                     /gene_synonym="OR11-65; OR56B1P"
                     /note="hexamer: ATTAAA"
     polyA_site      2076
                     /gene="OR56B1"
                     /gene_synonym="OR11-65; OR56B1P"
                     /note="major polyA site"
ORIGIN
        1 ttctgtggtg gttccaacct gtgataactg agaacaatac aaatagagat ttgaaattca
       61 tgttgaatca tgaatcatat gtctgcatct ctcaaaatct ccaatagctc caaattccag
      121 gtctctgagt tcatcctgct gggattcccg ggcattcaca gctggcaaca ctggctatct
      181 ctgcccctgg cactactgta tctctcagca cttgctgcaa acaccctcat cctcatcatc
      241 atctggcaga acccttcttt acagcagccc atgtatattt tccttggcat cctctgtatg
      301 gtagacatgg gtctggccac tactatcatc cctaagatcc tggccatctt ctggtttgat
      361 gccaaggtta ttagcctccc tgagtgcttt gctcagattt atgccattca cttctttgtg
      421 ggcatggagt ctggtatcct actctgcatg gcttttgata gatatgtggc tatttgtcac
      481 cctcttcgct atccatcaat tgtcaccagt tccttaatct taaaagctac cctgttcatg
      541 gtgctgagaa atggcttatt tgtcactcca gtgcctgtgc ttgcagcaca gcgtgattat
      601 tgctccaaga atgaaattga acactgcctg tgctctaacc ttggggtcac aagcctggct
      661 tgtgatgaca ggaggccaaa cagcatttgc cagttggttc tggcatggct tggaatgggg
      721 agtgatctaa gtcttattat actgtcatat attttgattc tgtactctgt acttagactg
      781 aactcagctg aagctgcagc caaggccctg agcacttgta gttcacatct caccctcatc
      841 cttttctttt acactattgt tgtagtgatt tcagtgactc atctgacaga gatgaaggct
      901 actttgattc cagttctact taatgtgttg cacaacatca tccccccttc cctcaaccct
      961 acagtttatg cacttcagac caaagaactt agggcagcct tccaaaaggt gctgtttgcc
     1021 cttacaaaag aaataagatc ttagagacct tctccatgat gtacatgaac ctcagcttct
     1081 cctaaactgg atagtaaaat ttcaaagagg ataaatgagt aagtgaatac ctttgggatt
     1141 ccctttttat atttgtatgt aaataattgt gaaagcttca gaaaagatac aaaaaatcac
     1201 agtagcctaa aatattgaca aaagctaaat atttaaatat atttgagaat atggaagaaa
     1261 tttctgccaa atcaaattgg atttaaagaa cttaatgatt gatatctatc tcttaaaata
     1321 aaaatgaata taatcacaca cccacaaata cacacacaga cacacataca ttcaatcaga
     1381 caaatgagtg attgggacat gaatcacagg tcatgcttgc gcattgttag ctgtaacttg
     1441 ggagctgtaa cttgggagca aagtcagtct gcctaaacaa gcattactcc agtaatatga
     1501 aatacagagg tcggaaaaga aaataattca gataaagcca aatcagtcaa tgatgaggat
     1561 ttatgtggaa tatgagatga ctcagcttgg acagacagaa cccaaaagat tcatctagct
     1621 agaaggatct ggtgcttacg ccgtttgcct ccccagattt gctgtctgcc ctttgtgcac
     1681 tgctctgtaa actggagggc tgactttcac atattgtaag cccaaactcc tttgtctttc
     1741 ggtgttcagt tgaattgagc caatgtgatg cgtgacagat tatagttcaa gaggagacag
     1801 catttgggct atttattatt ctactcccag cctgctttga catgagggtt ttcactggat
     1861 atgtcccttc tctggccacc cacctgctac agctacagct tttatggaaa tatagtaaca
     1921 ggcttgtctt gccttctttc ttcaggccaa ggggctgata aaggcttcct gatagtagtc
     1981 tctgagtgcc cagcatccat tattttttaa tatccacttg ttttcttaaa caacctacta
     2041 ctcaatacca acttcattaa attgtcttca aactca
//
LOCUS       NM_001005181            1152 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 56 subfamily B member 4
            (OR56B4), mRNA.
ACCESSION   NM_001005181
VERSION     NM_001005181.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1152)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136879.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000316529.3/ ENSP00000321196.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC136880.1.
            On Dec 17, 2014 this sequence version replaced NM_001005181.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1152
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1152
                     /gene="OR56B4"
                     /gene_synonym="OR11-67"
                     /note="olfactory receptor family 56 subfamily B member 4"
                     /db_xref="GeneID:196335"
                     /db_xref="HGNC:HGNC:15248"
     misc_feature    81..83
                     /gene="OR56B4"
                     /gene_synonym="OR11-67"
                     /note="upstream in-frame stop codon"
     CDS             96..1055
                     /gene="OR56B4"
                     /gene_synonym="OR11-67"
                     /note="olfactory receptor OR11-67"
                     /codon_start=1
                     /product="olfactory receptor 56B4"
                     /protein_id="NP_001005181.1"
                     /db_xref="CCDS:CCDS31406.1"
                     /db_xref="GeneID:196335"
                     /db_xref="HGNC:HGNC:15248"
                     /translation="MDTSTSVTYDSSLQISQFILMGLPGIHEWQHWLSLPLTLLYLLAL
                     GANLLIIITIQHETVLHEPMYHLLGILAVVDIGLATTIMPKILAIFWFDAKAISLPMCF
                     AQIYAIHCFFCIESGIFLCMAVDRYIAICRPLQYPSIVTKAFVFKATGFIMLRNGLLTI
                     PVPILAAQRHYCSRNEIEHCLCSNLGVISLACDDITVNKFYQLMLAWVLVGSDMALVFS
                     SYAVILHSVLRLNSAEAMSKALSTCSSHLILILFHTGIIVLSVTHLAEKKIPLIPVFLN
                     VLHNVIPPALNPLACALRMHKLRLGFQRLLGLGQDVSK"
     misc_feature    189..251
                     /gene="OR56B4"
                     /gene_synonym="OR11-67"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH76.1);
                     transmembrane region"
     misc_feature    276..338
                     /gene="OR56B4"
                     /gene_synonym="OR11-67"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH76.1);
                     transmembrane region"
     misc_feature    411..473
                     /gene="OR56B4"
                     /gene_synonym="OR11-67"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH76.1);
                     transmembrane region"
     misc_feature    531..593
                     /gene="OR56B4"
                     /gene_synonym="OR11-67"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH76.1);
                     transmembrane region"
     misc_feature    702..764
                     /gene="OR56B4"
                     /gene_synonym="OR11-67"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH76.1);
                     transmembrane region"
     misc_feature    825..884
                     /gene="OR56B4"
                     /gene_synonym="OR11-67"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH76.1);
                     transmembrane region"
     misc_feature    927..989
                     /gene="OR56B4"
                     /gene_synonym="OR11-67"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH76.1);
                     transmembrane region"
ORIGIN
        1 acaggcatga accacgatgc tcagcccctt agctgaactt ttaaacagag atttcttcta
       61 tttcagacag acactgagac tgaggcaccc attccatgga tacctccacc agtgttacct
      121 atgactccag cctccagatt tcccagttca tcctgatggg attaccaggc attcatgagt
      181 ggcagcactg gctctccctg cccctgactc tgctctacct cttagctctt ggtgccaatc
      241 tcctcatcat aatcaccatt caacatgaga ccgtgctaca tgaacccatg taccatttgc
      301 tgggcatatt agcagtggtg gacattggcc tggccaccac catcatgccc aagatcctgg
      361 ccatcttctg gtttgatgcc aaggccatta gcctccccat gtgttttgct cagatctatg
      421 ccatccactg cttcttctgc atagagtcag gcatctttct ctgcatggca gtagacagat
      481 acatagccat ctgtcgccct cttcagtacc cctccatagt cactaaagct tttgtcttca
      541 aagccacagg gttcatcatg ctcaggaatg gcctgttgac catcccagtg cctatactgg
      601 ctgcccagag acactactgt tccaggaatg aaatcgagca ctgcctctgc tctaacttgg
      661 gggttatcag cctggcttgt gatgacatca ctgtgaacaa attttaccaa ctgatgctag
      721 catgggtctt ggttgggagt gatatggctc tggtattttc ttcctatgct gtaatccttc
      781 actctgtgct gaggctgaac tcagcagaag caatgtccaa ggctctgagc acttgtagct
      841 cccacctcat cctcatcctc ttccacacag gtatcattgt gctgtctgtc acacaccttg
      901 cagagaaaaa gattcccctt attcctgtgt tccttaatgt gctgcacaat gtcatccccc
      961 ctgcactcaa ccccctggcc tgtgcactca ggatgcacaa actcagactg ggctttcaga
     1021 gactgcttgg actgggtcag gacgtgtcca agtaactcca gctttaggaa tccagtaaga
     1081 tgttaggaaa tgacagaggt tttagttctc aatagatcag ggttataatc tgcacttacc
     1141 acactcccta gg
//
LOCUS       NM_001005182            2055 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily C member 1
            (OR6C1), mRNA.
ACCESSION   NM_001005182
VERSION     NM_001005182.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2055)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2055)
  AUTHORS   Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and
            Mollon JD.
  TITLE     Variants in the 1q21 risk region are associated with a visual
            endophenotype of autism and schizophrenia
  JOURNAL   Genes Brain Behav 13 (2), 144-151 (2014)
   PUBMED   24152035
REFERENCE   3  (bases 1 to 2055)
  AUTHORS   Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M and
            Tokunaga K.
  TITLE     An approach based on a genome-wide association study reveals
            candidate loci for narcolepsy
  JOURNAL   Hum Genet 128 (4), 433-441 (2010)
   PUBMED   20677014
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 2055)
  AUTHORS   Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha
            S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson
            AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ,
            Metzker ML, Milosavljevic A, Miner GR, Montgomery KT, Morgan MB,
            Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Lovering RC,
            Wheeler DA, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA,
            Ayele M, Brown MJ, Chen G, Chen Z, Clerc-Blankenburg KP, Davis C,
            Delgado O, Dinh HH, Draper H, Gonzalez-Garay ML, Havlak P, Jackson
            LR, Jacob LS, Kelly SH, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari
            M, Nguyen BV, Okwuonu GO, Pasternak S, Perez LM, Plopper FJ,
            Santibanez J, Shen H, Tabor PE, Verduzco D, Waldron L, Wang Q,
            Williams GA, Zhang J, Zhou J, Allen CC, Amin AG, Anyalebechi V,
            Bailey M, Barbaria JA, Bimage KE, Bryant NP, Burch PE, Burkett CE,
            Burrell KL, Calderon E, Cardenas V, Carter K, Casias K, Cavazos I,
            Cavazos SR, Ceasar H, Chacko J, Chan SN, Chavez D, Christopoulos C,
            Chu J, Cockrell R, Cox CD, Dang M, Dathorne SR, David R, Davis CM,
            Davy-Carroll L, Deshazo DR, Donlin JE, D'Souza L, Eaves KA, Egan A,
            Emery-Cohen AJ, Escotto M, Flagg N, Forbes LD, Gabisi AM, Garza M,
            Hamilton C, Henderson N, Hernandez O, Hines S, Hogues ME, Huang M,
            Idlebird DG, Johnson R, Jolivet A, Jones S, Kagan R, King LM, Leal
            B, Lebow H, Lee S, LeVan JM, Lewis LC, London P, Lorensuhewa LM,
            Loulseged H, Lovett DA, Lucier A, Lucier RL, Ma J, Madu RC, Mapua P,
            Martindale AD, Martinez E, Massey E, Mawhiney S, Meador MG, Mendez
            S, Mercado C, Mercado IC, Merritt CE, Miner ZL, Minja E, Mitchell T,
            Mohabbat F, Mohabbat K, Montgomery B, Moore N, Morris S, Munidasa M,
            Ngo RN, Nguyen NB, Nickerson E, Nwaokelemeh OO, Nwokenkwo S, Obregon
            M, Oguh M, Oragunye N, Oviedo RJ, Parish BJ, Parker DN, Parrish J,
            Parks KL, Paul HA, Payton BA, Perez A, Perrin W, Pickens A, Primus
            EL, Pu LL, Puazo M, Quiles MM, Quiroz JB, Rabata D, Reeves K, Ruiz
            SJ, Shao H, Sisson I, Sonaike T, Sorelle RP, Sutton AE, Svatek AF,
            Svetz LA, Tamerisa KS, Taylor TR, Teague B, Thomas N, Thorn RD,
            Trejos ZY, Trevino BK, Ukegbu ON, Urban JB, Vasquez LI, Vera VA,
            Villasana DM, Wang L, Ward-Moore S, Warren JT, Wei X, White F,
            Williamson AL, Wleczyk R, Wooden HS, Wooden SH, Yen J, Yoon L, Yoon
            V, Zorrilla SE, Nelson D, Kucherlapati R, Weinstock G and Gibbs RA.
  CONSRTM   Baylor College of Medicine Human Genome Sequencing Center Sequence
            Production Team
  TITLE     The finished DNA sequence of human chromosome 12
  JOURNAL   Nature 440 (7082), 346-351 (2006)
   PUBMED   16541075
REFERENCE   5  (bases 1 to 2055)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642104.1/ ENSP00000492978.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC122684.3.
            On Jan 12, 2021 this sequence version replaced NM_001005182.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..2055
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..2055
                     /gene="OR6C1"
                     /gene_synonym="OST267"
                     /note="olfactory receptor family 6 subfamily C member 1"
                     /db_xref="GeneID:390321"
                     /db_xref="HGNC:HGNC:8355"
     misc_feature    285..287
                     /gene="OR6C1"
                     /gene_synonym="OST267"
                     /note="upstream in-frame stop codon"
     CDS             291..1229
                     /gene="OR6C1"
                     /gene_synonym="OST267"
                     /codon_start=1
                     /product="olfactory receptor 6C1"
                     /protein_id="NP_001005182.1"
                     /db_xref="CCDS:CCDS31818.1"
                     /db_xref="GeneID:390321"
                     /db_xref="HGNC:HGNC:8355"
                     /translation="MRNHTEITEFILLGLTDDPNFQVVIFVFLLITYMLSITGNLTLIT
                     ITLLDSHLQTPMYFFLRNFSILEISFTTVSIPKFLGNIISGDKTISFNNCIVQLFFFIL
                     LGVTEFYLLAAMSYDRYVAICKPLHCLSIMNRRVCTLLVFTSWLVSFLIIFPALMLLLK
                     LHYCRSNIIDHFTCDYFPLLQLACSDTKFLEVMGFSCAAFTLMFTLALIFLSYIYIIRT
                     ILRIPSTSQRTKAFSTCSSHMVVVSISYGSCIFMYIKPSAKDRVSLSKGVAILNTSVAP
                     MMNPFIYSLRNQQVKQAFINMARKTVFFTST"
     misc_feature    297..299
                     /gene="OR6C1"
                     /gene_synonym="OST267"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96RD1.2); glycosylation site"
     misc_feature    360..422
                     /gene="OR6C1"
                     /gene_synonym="OST267"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD1.2);
                     transmembrane region"
     misc_feature    447..509
                     /gene="OR6C1"
                     /gene_synonym="OST267"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD1.2);
                     transmembrane region"
     misc_feature    582..644
                     /gene="OR6C1"
                     /gene_synonym="OST267"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD1.2);
                     transmembrane region"
     misc_feature    702..764
                     /gene="OR6C1"
                     /gene_synonym="OST267"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD1.2);
                     transmembrane region"
     misc_feature    876..935
                     /gene="OR6C1"
                     /gene_synonym="OST267"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD1.2);
                     transmembrane region"
     misc_feature    996..1058
                     /gene="OR6C1"
                     /gene_synonym="OST267"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD1.2);
                     transmembrane region"
     misc_feature    1098..1160
                     /gene="OR6C1"
                     /gene_synonym="OST267"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD1.2);
                     transmembrane region"
ORIGIN
        1 cagttctaaa acactttcag atactttccc tattttatat ttttgctcct ttctcactct
       61 ctactatcaa agacacatat tctgtctgga taaaatggga aaattaagac aaaagattga
      121 aaataggaag aaaatttctt caatgagaaa gtgaatgttt tcagaaatcc tggttttact
      181 ggatagcaat ggcatttgct aatatctcta ctattccagc cattctgaat gttagtgaaa
      241 ctatatgaaa atcagaggtc tggcagggga aaaaagaaag caactgaaga atgagaaacc
      301 atacagaaat aacagagttt attcttctgg gattaacaga tgacccaaat tttcaggttg
      361 taatctttgt cttcctgctc atcacctaca tgctcagcat cactgggaac ctgaccctta
      421 tcacaattac cctgctggat tcccacctgc agacccccat gtatttcttc ctcagaaatt
      481 tctccatatt agaaatttcg ttcacaaccg tcagtatacc caagtttctg ggtaacatta
      541 tttcaggaga taaaaccatt tcctttaata attgcatagt tcagttattt ttcttcattc
      601 tcttgggagt cacagagttt taccttctgg ctgccatgtc ctatgaccgc tatgtggcca
      661 tctgcaagcc tctgcattgc ttgagtatca tgaatcgaag agtctgcaca ctgcttgttt
      721 ttacttcttg gctggtttca ttcttaatca tattcccagc actcatgttg cttttaaagc
      781 ttcattactg taggtctaat attattgacc attttacctg tgattatttt ccactgctgc
      841 aacttgcttg ttcagacaca aaattcttag aggtgatggg attttcttgt gctgcgttta
      901 ctctaatgtt cactttggca ttaatatttc tgtcctacat atacattatc agaacaattt
      961 tgagaattcc ttctactagt cagaggacaa aggccttttc cacatgttct tcccacatgg
     1021 ttgttgtctc catctcttat ggcagctgca tttttatgta cattaaaccc tcagcaaaag
     1081 atagagtgtc cttgagcaag ggagtggcaa tactaaacac ctcagtagcc cccatgatga
     1141 acccctttat ttacagccta agaaatcagc aagtcaagca agctttcatt aacatggcaa
     1201 ggaagactgt atttttcaca agcacatgaa atggtatggt gtgatgaatt agaggcacag
     1261 gaaaggacaa tatgaatttt cagtagcttc ttcaatcaaa atggcctcct tgcagtcttc
     1321 tgcatcattt tcttttccct aaaagtttgc aagcatattt atttaatata tttctcattt
     1381 gacttaaaat aattttcttg tgtcttcctg acaccccctc ctttgaacaa ttttttgtaa
     1441 aattacaagc tcttcaagaa tattttgaaa actaaaatta ttcttcagtt tacttcaaga
     1501 aataaaatta tacctagata cattggaatg gctttataaa tatcaatatg atattctact
     1561 tgttatacac agaacatata gttttataat tttaatttat tcttatagaa attcccttca
     1621 ctatgctact gatgttctag gaaatatgtg aaagatacaa tataattttt aaaaaatgta
     1681 agtgaattca tttgaaaagc aaaaaaaaat ttcattactc attttaatta ggtatgttgg
     1741 tgaaattaat ctattaataa aggagcctag accattatca atatatactt ttttgttata
     1801 agtgctaagt agagctccat atttgtgaat cccataatat tctctctgta gaatgacaga
     1861 tgatggatag acacatatgc aaatacatac ataagttttg tcaaacatag agaatatata
     1921 gtatattcct aagatatgtt aattttctgt gagtggaaaa taagcttctt tctatcatta
     1981 cctaaaagta gtatgtaaat cttcttaaat tttagactag tttaaaacag gatatgtatc
     2041 caaattattt tatac
//
LOCUS       NM_001005183             939 bp    mRNA    linear   PRI 27-SEP-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily C member 76
            (OR6C76), transcript variant 1, mRNA.
ACCESSION   NM_001005183
VERSION     NM_001005183.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and
            Mollon JD.
  TITLE     Variants in the 1q21 risk region are associated with a visual
            endophenotype of autism and schizophrenia
  JOURNAL   Genes Brain Behav 13 (2), 144-151 (2014)
   PUBMED   24152035
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328314.3/ ENSP00000328402.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC125816.8.
            On Sep 23, 2004 this sequence version replaced XM_372463.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the allele encoded
            by the GRCh38 reference genome and encodes isoform (1).
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..939
                     /gene="OR6C76"
                     /note="olfactory receptor family 6 subfamily C member 76"
                     /db_xref="GeneID:390326"
                     /db_xref="HGNC:HGNC:31305"
     CDS             1..939
                     /gene="OR6C76"
                     /note="isoform 1 is encoded by transcript variant 1;
                     olfactory receptor 6C76"
                     /codon_start=1
                     /product="olfactory receptor 6C76 isoform 1"
                     /protein_id="NP_001005183.1"
                     /db_xref="CCDS:CCDS31823.1"
                     /db_xref="GeneID:390326"
                     /db_xref="HGNC:HGNC:31305"
                     /translation="MKNRTSVTDFILLGLTDNPQLQVVIFSFLFLTYVLSVTGNLTIIS
                     LTLLDSHLKTPMYFFLRNFSLEISFTSVCNPRFLISILTGDKSISYNACAAQLFFFIFL
                     GSTEFFLLASMSYDCYVAICKPLHYTTIMSDRICYQLIISSWLAGFLVIFPPLAMGLQL
                     DFCDSNVIDHFTCDSAPLLQISCTDTSTLELMSFILALFTLISTLILVILSYTYIIRTI
                     LRIPSAQQRKKAFSTCSSHVIVVSISYGSCIFMYVKTSAKEGVALTKGVAILNTSVAPM
                     LNPFIYTLRNQQVKQAFKDVLRKISHKKKKH"
     misc_feature    7..9
                     /gene="OR6C76"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NM76.1); glycosylation site"
     misc_feature    70..132
                     /gene="OR6C76"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM76.1);
                     transmembrane region"
     misc_feature    172..240
                     /gene="OR6C76"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM76.1);
                     transmembrane region"
     misc_feature    283..345
                     /gene="OR6C76"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM76.1);
                     transmembrane region"
     misc_feature    427..489
                     /gene="OR6C76"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM76.1);
                     transmembrane region"
     misc_feature    586..648
                     /gene="OR6C76"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM76.1);
                     transmembrane region"
     misc_feature    715..777
                     /gene="OR6C76"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM76.1);
                     transmembrane region"
     misc_feature    802..864
                     /gene="OR6C76"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM76.1);
                     transmembrane region"
ORIGIN
        1 atgaaaaata gaacatcagt gacagatttc atccttctgg gtctgacgga taatccgcaa
       61 ctgcaggttg tgattttctc gttcctattt cttacgtatg tactgagtgt tactggaaat
      121 ctaactatca tctcccttac cctgctggat tcccacctga agacccccat gtatttcttc
      181 ctcaggaatt tctccttgga aatttcattt acttctgtct gtaatcctag atttctgatc
      241 agcattctaa caggggacaa atccatatct tataatgctt gtgcagctca gctatttttc
      301 tttatcttcc ttggctcaac ggagtttttc ctcctggcct ctatgtccta tgattgctat
      361 gtggctatat gtaagcctct gcattataca accatcatga gtgacaggat ctgttatcag
      421 cttataatca gctcttggct ggctggtttc ttggtaattt ttccaccact ggccatgggc
      481 ttacagctgg atttctgtga ctccaatgtc attgaccact ttacctgtga ctctgctcct
      541 ttgctgcaaa tctcttgcac agacacaagt actctagagc tcatgagctt tattttagct
      601 ctgtttactc ttatatccac tttgatatta gtaattctct cctatactta catcatcaga
      661 actattctga gaatcccctc agcacagcaa agaaaaaaag ccttttcaac ctgctcctca
      721 catgtgattg ttgtctctat ctcttatgga agctgcatct tcatgtatgt gaaaacatca
      781 gcaaaggaag gagttgcttt gacaaaagga gtagctatac tcaatacctc tgtcgctcct
      841 atgctgaatc catttattta cactctaaga aaccagcagg tgaaacaagc atttaaggat
      901 gttctgagaa agatttccca caaaaaaaaa aaacactga
//
LOCUS       NM_001005184            1172 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily K member 6
            (OR6K6), mRNA.
ACCESSION   NM_001005184
VERSION     NM_001005184.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1172)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless         :: BC140743.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000641861.1/ ENSP00000493180.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL513205.8.
            On Jun 19, 2021 this sequence version replaced NM_001005184.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1172
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     gene            1..1172
                     /gene="OR6K6"
                     /gene_synonym="OR1-21"
                     /note="olfactory receptor family 6 subfamily K member 6"
                     /db_xref="GeneID:128371"
                     /db_xref="HGNC:HGNC:15033"
     misc_feature    22..24
                     /gene="OR6K6"
                     /gene_synonym="OR1-21"
                     /note="upstream in-frame stop codon"
     misc_feature    97..99
                     /gene="OR6K6"
                     /gene_synonym="OR1-21"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MKQYSVGNQHSNYRSLLFPFLCSQ"
     CDS             169..1128
                     /gene="OR6K6"
                     /gene_synonym="OR1-21"
                     /note="olfactory receptor OR1-21"
                     /codon_start=1
                     /product="olfactory receptor 6K6"
                     /protein_id="NP_001005184.2"
                     /db_xref="CCDS:CCDS30904.2"
                     /db_xref="GeneID:128371"
                     /db_xref="HGNC:HGNC:15033"
                     /translation="MTQLTASGNQTMVTEFLFSMFPHAHRGGLLFFIPLLLIYGFILTG
                     NLIMFIVIQVGMALHTPLYFFISVLSFLEICYTTTTIPKMLSCLISEQKSISVAGCLLQ
                     MYFFHSLGITESCVLTAMAIDRYIAICNPLRYPTIMIPKLCIQLTVGSCFCGFLLVLPE
                     IAWISTLPFCGSNQIHQIFCDFTPVLSLACTDTFLVVIVDAIHAAEIVASFLVIALSYI
                     RIIIVILGMHSAEGHHKAFSTCAAHLAVFLLFFGSVAVMYLRFSATYSVFWDTAIAVTF
                     VILAPFFNPIIYSLKNKDMKEAIGRLFHYQKRAGWAGK"
ORIGIN
        1 cagatgattt tggcatggag gtaaagctta agagatattt ctaactggtt tcttcaggat
       61 tccagaatca gcttgagtaa ctcattacag aaaggaatga agcaatattc agtgggtaat
      121 caacattcca attataggag tctcttgttt ccttttctgt gttcacagat gacacagttg
      181 acggccagtg ggaatcagac aatggtgact gagttcctct tctctatgtt cccgcatgcg
      241 cacagaggtg gcctcttatt ctttattccc ttgcttctca tctacggatt tatcctaact
      301 ggaaacctaa taatgttcat tgtcatccag gtgggcatgg ccctgcacac ccctttgtat
      361 ttctttatca gtgtcctctc cttcctggag atctgctata ccacaaccac catccccaag
      421 atgctgtcct gcctaatcag tgagcagaag agcatttccg tggctggctg cctcctgcag
      481 atgtactttt tccactcact tggtatcaca gaaagctgtg tcctgacagc aatggccatt
      541 gacaggtaca tagctatctg caatccactc cgttacccaa ccatcatgat tcccaaactt
      601 tgtatccagc tgacagttgg atcctgcttt tgtggcttcc tccttgtgct tcctgagatt
      661 gcatggattt ccaccttgcc tttctgtggc tccaaccaga tccaccagat attctgtgat
      721 ttcacacctg tgctgagctt ggcctgcaca gatacattcc tagtggtcat tgtggatgcc
      781 atccatgcag cggaaattgt agcctccttc ctggtcattg ctctatccta catccggatt
      841 attatagtga ttctgggaat gcactcagct gaaggtcatc acaaggcctt ttccacctgt
      901 gctgctcacc ttgctgtgtt cttgctattt tttggcagtg tggctgtcat gtatttgaga
      961 ttctcagcca cctactcagt gttttgggac acagcaattg ctgtcacttt tgttatcctt
     1021 gctccctttt tcaaccccat catctatagc ctgaaaaaca aggacatgaa agaggctatt
     1081 ggaaggcttt tccactatca gaagagggct ggttgggctg ggaaatagat acagatcctg
     1141 gagactctaa aaagcctctt ggaagagcaa aa
//
LOCUS       NM_001005185            2640 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily N member 1
            (OR6N1), mRNA.
ACCESSION   NM_001005185
VERSION     NM_001005185.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2640)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 2640)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641846.1/ ENSP00000493254.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL513205.8.
            On Jul 30, 2020 this sequence version replaced NM_001005185.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..2640
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     gene            1..2640
                     /gene="OR6N1"
                     /gene_synonym="OR1-22"
                     /note="olfactory receptor family 6 subfamily N member 1"
                     /db_xref="GeneID:128372"
                     /db_xref="HGNC:HGNC:15034"
     misc_feature    188..190
                     /gene="OR6N1"
                     /gene_synonym="OR1-22"
                     /note="upstream in-frame stop codon"
     CDS             194..1132
                     /gene="OR6N1"
                     /gene_synonym="OR1-22"
                     /note="olfactory receptor OR1-22"
                     /codon_start=1
                     /product="olfactory receptor 6N1"
                     /protein_id="NP_001005185.1"
                     /db_xref="CCDS:CCDS30905.1"
                     /db_xref="GeneID:128372"
                     /db_xref="HGNC:HGNC:15034"
                     /translation="MDTGNWSQVAEFIILGFPHLQGVQIYLFLLLLLIYLMTVLGNLLI
                     FLVVCLDSRLHTPMYHFVSILSFSELGYTAATIPKMLANLLSEKKTISFSGCLLQIYFF
                     HSLGATECYLLTAMAYDRYLAICRPLHYPTLMTPTLCAEIAIGCWLGGLAGPVVEISLI
                     SRLPFCGPNRIQHVFCDFPPVLSLACTDTSINVLVDFVINSCKILATFLLILCSYVQII
                     CTVLRIPSAAGKRKAISTCASHFTVVLIFYGSILSMYVQLKKSYSLDYDQALAVVYSVL
                     TPFLNPFIYSLRNKEIKEAVRRQLKRIGILA"
     misc_feature    206..208
                     /gene="OR6N1"
                     /gene_synonym="OR1-22"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGY5.1); glycosylation site"
     misc_feature    269..331
                     /gene="OR6N1"
                     /gene_synonym="OR1-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY5.1);
                     transmembrane region"
     misc_feature    356..418
                     /gene="OR6N1"
                     /gene_synonym="OR1-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY5.1);
                     transmembrane region"
     misc_feature    491..553
                     /gene="OR6N1"
                     /gene_synonym="OR1-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY5.1);
                     transmembrane region"
     misc_feature    611..673
                     /gene="OR6N1"
                     /gene_synonym="OR1-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY5.1);
                     transmembrane region"
     misc_feature    785..844
                     /gene="OR6N1"
                     /gene_synonym="OR1-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY5.1);
                     transmembrane region"
     misc_feature    905..967
                     /gene="OR6N1"
                     /gene_synonym="OR1-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY5.1);
                     transmembrane region"
     misc_feature    1007..1069
                     /gene="OR6N1"
                     /gene_synonym="OR1-22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY5.1);
                     transmembrane region"
ORIGIN
        1 gttccatcaa agtgataaac ttcaacccct ccaggccccg ggaatggctg ggtataatac
       61 tgcaaatgag acataggaag tatacaggaa gttctcttca aacttcggac tccgagcagt
      121 ggctgggctt ccagagtcaa gctctagcag agcactcccc accaacaatc tctagggaca
      181 tgaatggtga gcaatggaca cagggaactg gagccaggta gcagaattca tcatcttggg
      241 cttcccccat ctccagggtg tccagattta tctcttcctc ttgttgcttc tcatttacct
      301 catgactgtg ttgggaaacc tgctgatatt cctggtggtc tgcctggact cccggcttca
      361 cacacccatg taccactttg tcagcattct ctccttctca gagcttggct atacagctgc
      421 caccatccct aagatgctgg caaacttgct cagtgagaaa aagaccattt cattctctgg
      481 gtgtctcctg cagatctatt tctttcactc ccttggagcg actgagtgct atctcctgac
      541 agctatggcc tacgataggt atttagccat ctgccggccc ctccactacc caaccctcat
      601 gaccccaaca ctttgtgcag agattgccat tggctgttgg ttgggaggct tggctgggcc
      661 agtagttgaa atttccttga tttcacgcct cccattctgt ggccccaatc gcattcagca
      721 cgtcttttgt gacttccctc ctgtgctgag tttggcttgc actgatacgt ctataaatgt
      781 cctagtagat tttgttataa attcctgcaa gatcctagcc accttcctgc tgatcctctg
      841 ctcctatgtg cagatcatct gcacagtgct cagaattccc tcagctgccg gcaagaggaa
      901 ggccatctcc acgtgtgcct cccacttcac tgtggttctc atcttctatg ggagcatcct
      961 ttccatgtat gtgcagctga agaagagcta ctcactggac tatgaccagg ccctggcagt
     1021 ggtctactca gtgctcacac ccttcctcaa ccccttcatc tacagcttgc gcaacaagga
     1081 gatcaaggag gctgtgagga ggcagctaaa gagaattggg atattggcat gagttggggc
     1141 tgagagtagg ccaaggccgg gcctgaggat atggtggccc cagggatcaa cagtggccag
     1201 agacgagaaa ctaaaaattc agtgcttttc tatgtggggt ggtggagctg cagcaagtgc
     1261 tgactgactt ccagtgttat agcgaccttc atactgtctg ctggagccac atttggcttg
     1321 agaccagaga ctagggaaag tacacatccc ttcaacatga tgtagtgcag tgattttcaa
     1381 aactcagatg tttatgtatc acacttaggt tttttttaaa atctgtgtct tacctattat
     1441 acgtttatag gcatttttca aatttacttg acttaatata aatatagtca ggcatgtcct
     1501 aaacaaaatg tgattcatga tgttttttgt accacttgca atcatttcat gtggagaaga
     1561 ctggtacagt agaaaaaagc atgttttttg aactcatata tatctggatt taaatcatgt
     1621 tttattcagt cacttgctaa ttacttaatc tttagaaagt aacttagcat ctctgagtct
     1681 taatttcatt atttgataat ggtattttct tgaagagtgt tttgaatatt aacgttaaga
     1741 tttgtaaacc acagtgcaca gtgtctgaca tgtaggtgat agtaaataaa taaggacttg
     1801 tttttattta ttttattctg cgaagacttc acatcattac tctgggtctt agaacaatat
     1861 ctagtaaaac ataaataaac aaaaatactt tccaagtatt ttctccaaag gaaaggagca
     1921 aaccagccag aaggaatact tgtatagtat acaagtatac tatacttgaa aagtatagtt
     1981 tgtcacagtt ctgttctgac aagtttcatg tacctgtctt agtggtccta atatctatgg
     2041 ccagtataat gtatgaaagt ataggagttg agtcagtgga aagaaatagg attacttttt
     2101 acatcgaacc atttctttat tgaattgtaa gctaattatt tcctgaaacg tgtgaaaaat
     2161 aattctaaaa tgtagcatat gagagatctg gggattcaat taatagctaa tattatgtat
     2221 tctttatgta tccttccatg aatggaggat caaatattaa ctacaagaaa tctttgaatt
     2281 ctatagaact tcctaagaag attacaaaat atttttaata ccacactttt aaaggtattc
     2341 atccatccat gcattcaaat taacacgttt atttagctct tactatatat cagatgcagt
     2401 gtcaactcta caaaagcaat gaacaagaca tatatatgtc caggtcctac ctttagggtg
     2461 ttttaaaaga gttgagaata taaatattaa aattataatt aatttataat tagttataat
     2521 taattataat tgtgggaagt agtattaaga taaacatgca ttctcctttt ttttcacttg
     2581 tctttgaagt ttattgagaa ttttaagcag ataaatgttt ttacattaaa taatcaccag
//
LOCUS       NM_001005186             954 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily Q member 1
            (OR6Q1), mRNA.
ACCESSION   NM_001005186
VERSION     NM_001005186.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 954)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 954)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 954)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   4  (bases 1 to 954)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC151146.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000302622.4/ ENSP00000307734.3
            polymorphic pseudogene   :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003401.2.
            On Jul 25, 2007 this sequence version replaced NM_001005186.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jul 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be functional according to the Classifier for
            Olfactory Receptor Pseudogenes. This RefSeq was derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            CCDS Note: This olfactory receptor gene is a segregating pseudogene
            (PMID:22908908), where some individuals have an allele that encodes
            a functional olfactory receptor, while other individuals have an
            allele that is predicted to be non-functional. This CCDS is being
            retained because the Classifier for Olfactory Receptor Pseudogenes
            (CORP) predicts the reference genome allele to be functional.
FEATURES             Location/Qualifiers
     source          1..954
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..954
                     /gene="OR6Q1"
                     /gene_synonym="OR11-226"
                     /note="olfactory receptor family 6 subfamily Q member 1"
                     /db_xref="GeneID:219952"
                     /db_xref="HGNC:HGNC:15302"
     CDS             1..954
                     /gene="OR6Q1"
                     /gene_synonym="OR11-226"
                     /note="olfactory receptor OR11-226"
                     /codon_start=1
                     /product="olfactory receptor 6Q1"
                     /protein_id="NP_001005186.2"
                     /db_xref="CCDS:CCDS31541.1"
                     /db_xref="GeneID:219952"
                     /db_xref="HGNC:HGNC:15302"
                     /translation="MQPYTKNWTQVTEFVMMGFAGIHEAHLLFFILFLTMYLFTLVENL
                     AIILVVGLDHRLRRPMYFFLTHLSCLEIWYTSVTVPKMLAGFIGVDGGKNISYADCLSQ
                     LFIFTFLGATECFLLAAMAYDRYVAICMPLHYGAFVSWGTCIRLAAACWLVGFLTPILP
                     IYLLSQLTFYGPNVIDHFSCDASPLLALSCSDVTWKETVDFLVSLAVLLASSMVIAVSY
                     GNIVWTLLHIRSAAERWKAFSTCAAHLTVVSLFYGTLFFMYVQTKVTSSINFNKVVSVF
                     YSVVTPMLNPLIYSLRNKEVKGALGRVFSLNFWKGQ"
     misc_feature    19..21
                     /gene="OR6Q1"
                     /gene_synonym="OR11-226"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGQ2.2); glycosylation site"
     misc_feature    82..144
                     /gene="OR6Q1"
                     /gene_synonym="OR11-226"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ2.2);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR6Q1"
                     /gene_synonym="OR11-226"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ2.2);
                     transmembrane region"
     misc_feature    283..285
                     /gene="OR6Q1"
                     /gene_synonym="OR11-226"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGQ2.2); glycosylation site"
     misc_feature    310..372
                     /gene="OR6Q1"
                     /gene_synonym="OR11-226"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ2.2);
                     transmembrane region"
     misc_feature    430..492
                     /gene="OR6Q1"
                     /gene_synonym="OR11-226"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ2.2);
                     transmembrane region"
     misc_feature    604..663
                     /gene="OR6Q1"
                     /gene_synonym="OR11-226"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ2.2);
                     transmembrane region"
     misc_feature    724..786
                     /gene="OR6Q1"
                     /gene_synonym="OR11-226"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ2.2);
                     transmembrane region"
     misc_feature    826..888
                     /gene="OR6Q1"
                     /gene_synonym="OR11-226"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ2.2);
                     transmembrane region"
ORIGIN
        1 atgcaaccat ataccaaaaa ctggacccag gtaactgaat ttgtcatgat gggctttgct
       61 ggcatccatg aagcacacct cctcttcttc atactcttcc tcaccatgta cctgttcacc
      121 ttggtggaga atttggccat cattttagtg gtgggtttgg accaccgact acggagaccc
      181 atgtatttct tcctgacaca cttgtcctgc cttgaaatct ggtacacttc tgttacagtg
      241 cccaagatgc tggctggttt tattggggtg gatggtggca agaatatctc ttatgctgat
      301 tgcctatccc agctcttcat cttcaccttt cttggggcaa ctgagtgttt cctactggct
      361 gccatggcct atgatcgtta tgtggccatt tgtatgcctc tccactatgg ggcttttgtg
      421 tcctggggca cctgcatccg tctggcagct gcctgttggc tggtaggttt cctcacaccc
      481 atcttgccaa tctacctctt gtctcagcta acattttatg gcccaaatgt cattgaccat
      541 ttctcctgtg atgcctcacc cttgctagcc ttgtcgtgct cagatgtcac ttggaaggag
      601 actgtggatt tcctggtgtc tctggctgtg ctactggcct cctctatggt cattgctgtg
      661 tcctatggca acatcgtctg gacactgctg cacatccgct cagctgctga gcgctggaag
      721 gccttctcta cctgtgcagc tcacctgact gtggtgagcc tcttctatgg cactcttttc
      781 tttatgtatg tccagaccaa ggtgacctcc tccatcaact tcaacaaggt ggtatctgtc
      841 ttctactctg ttgtcacgcc catgctcaat cctctcatct acagtcttag gaacaaggaa
      901 gtgaagggag ctctgggtcg agtcttttct ctcaactttt ggaagggaca gtga
//
LOCUS       NM_001005187             972 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily T member 1
            (OR6T1), mRNA.
ACCESSION   NM_001005187
VERSION     NM_001005187.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 972)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000321252.3/ ENSP00000325203.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065759.1.
            On Sep 22, 2004 this sequence version replaced XM_166781.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..972
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.1"
     gene            1..972
                     /gene="OR6T1"
                     /gene_synonym="OR11-277"
                     /note="olfactory receptor family 6 subfamily T member 1"
                     /db_xref="GeneID:219874"
                     /db_xref="HGNC:HGNC:14848"
     CDS             1..972
                     /gene="OR6T1"
                     /gene_synonym="OR11-277"
                     /note="olfactory receptor OR11-277"
                     /codon_start=1
                     /product="olfactory receptor 6T1"
                     /protein_id="NP_001005187.1"
                     /db_xref="CCDS:CCDS31700.1"
                     /db_xref="GeneID:219874"
                     /db_xref="HGNC:HGNC:14848"
                     /translation="MNPENWTQVTSFVLLGFPSSHLIQFLVFLGLMVTYIVTATGKLLI
                     IVLSWIDQRLHIQMYFFLRNFSFLELLLVTVVVPKMLVVILTGDHTISFVSCIIQSYLY
                     FFLGTTDFFLLAVMSLDRYLAICRPLRYETLMNGHVCSQLVLASWLAGFLWVLCPTVLM
                     ASLPFCGPNGIDHFFRDSWPLLRLSCGDTHLLKLVAFMLSTLVLLGSLALTSVSYACIL
                     ATVLRAPTAAERRKAFSTCASHLTVVVIIYGSSIFLYIRMSEAQSKLLNKGASVLSCII
                     TPLLNPFIFTLRNDKVQQALREALGWPRLTAVMKLRVTSQRK"
     misc_feature    13..15
                     /gene="OR6T1"
                     /gene_synonym="OR11-277"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGN1.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR6T1"
                     /gene_synonym="OR11-277"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN1.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR6T1"
                     /gene_synonym="OR11-277"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN1.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR6T1"
                     /gene_synonym="OR11-277"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN1.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR6T1"
                     /gene_synonym="OR11-277"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN1.1);
                     transmembrane region"
     misc_feature    592..651
                     /gene="OR6T1"
                     /gene_synonym="OR11-277"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN1.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR6T1"
                     /gene_synonym="OR11-277"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN1.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR6T1"
                     /gene_synonym="OR11-277"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGN1.1);
                     transmembrane region"
ORIGIN
        1 atgaaccctg aaaactggac tcaggtaaca agctttgtcc ttctgggttt ccccagtagc
       61 cacctcatac agttcctggt gttcctgggg ttaatggtga cctacattgt aacagccaca
      121 ggcaagctgc taattattgt gctcagctgg atagaccaac gcctgcacat acagatgtac
      181 ttcttcctgc ggaatttctc cttcctggag ctgttgctgg taactgttgt ggttcccaag
      241 atgcttgtcg tcatcctcac gggggatcac accatctcat ttgtcagctg catcatccag
      301 tcctacctct acttctttct aggcaccact gacttcttcc tcttggccgt catgtctctg
      361 gatcgttacc tggcaatctg ccgaccactc cgctatgaga ccctgatgaa tggccatgtc
      421 tgttcccaac tagtgctggc ctcctggcta gctggattcc tctgggtcct ttgccccact
      481 gtcctcatgg ccagcctgcc tttctgtggc cccaatggta ttgaccactt ctttcgtgac
      541 agttggccct tgctcaggct ttcttgtggg gacacccacc tgctgaaact ggtggctttc
      601 atgctctcta cgttggtgtt actgggctca ctggctctga cctcagtttc ctatgcctgc
      661 attcttgcca ctgttctcag ggcccctaca gctgctgagc gaaggaaagc gttttccact
      721 tgcgcctcgc atcttacagt ggtggtcatc atctatggca gttccatctt tctctacatt
      781 cgtatgtcag aggctcagtc caaactgctc aacaaaggtg cctccgtcct gagctgcatc
      841 atcacacccc tcttgaaccc attcatcttc actctccgca atgacaaggt gcagcaagca
      901 ctgagagaag ccttggggtg gcccaggctc actgctgtga tgaaactgag ggtcacaagt
      961 caaaggaaat ga
//
LOCUS       NM_001005188             939 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily X member 1
            (OR6X1), mRNA.
ACCESSION   NM_001005188
VERSION     NM_001005188.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Kim JH, Cheong HS, Park JS, Jang AS, Uh ST, Kim YH, Kim MK, Choi IS,
            Cho SH, Choi BW, Bae JS, Park CS and Shin HD.
  TITLE     A genome-wide association study of total serum and mite-specific
            IgEs in asthma patients
  JOURNAL   PLoS One 8 (8), e71958 (2013)
   PUBMED   23967269
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 939)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327930.3/ ENSP00000333724.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065510.1.
            On Sep 22, 2004 this sequence version replaced XM_372434.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.1"
     gene            1..939
                     /gene="OR6X1"
                     /gene_synonym="OR11-270"
                     /note="olfactory receptor family 6 subfamily X member 1"
                     /db_xref="GeneID:390260"
                     /db_xref="HGNC:HGNC:14737"
     CDS             1..939
                     /gene="OR6X1"
                     /gene_synonym="OR11-270"
                     /note="olfactory receptor OR11-270"
                     /codon_start=1
                     /product="olfactory receptor 6X1"
                     /protein_id="NP_001005188.1"
                     /db_xref="CCDS:CCDS31695.1"
                     /db_xref="GeneID:390260"
                     /db_xref="HGNC:HGNC:14737"
                     /translation="MRNGTVITEFILLGFPVIQGLQTPLFIAIFLTYILTLAGNGLIIA
                     TVWAEPRLQIPMYFFLCNLSFLEIWYTTTVIPKLLGTFVVARTVICMSCCLLQAFFHFF
                     VGTTEFLILTIMSFDRYLTICNPLHHPTIMTSKLCLQLALSSWVVGFTIVFCQTMLLIQ
                     LPFCGNNVISHFYCDVGPSLKAACIDTSILELLGVIATILVIPGSLLFNMISYIYILSA
                     ILRIPSATGHQKTFSTCASHLTVVSLLYGAVLFMYLRPTAHSSFKINKVVSVLNTILTP
                     LLNPFIYTIRNKEVKGALRKAMTCPKTGHAK"
     misc_feature    7..9
                     /gene="OR6X1"
                     /gene_synonym="OR11-270"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH79.1); glycosylation site"
     misc_feature    70..132
                     /gene="OR6X1"
                     /gene_synonym="OR11-270"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH79.1);
                     transmembrane region"
     misc_feature    157..219
                     /gene="OR6X1"
                     /gene_synonym="OR11-270"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH79.1);
                     transmembrane region"
     misc_feature    292..354
                     /gene="OR6X1"
                     /gene_synonym="OR11-270"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH79.1);
                     transmembrane region"
     misc_feature    412..474
                     /gene="OR6X1"
                     /gene_synonym="OR11-270"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH79.1);
                     transmembrane region"
     misc_feature    586..645
                     /gene="OR6X1"
                     /gene_synonym="OR11-270"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH79.1);
                     transmembrane region"
     misc_feature    706..768
                     /gene="OR6X1"
                     /gene_synonym="OR11-270"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH79.1);
                     transmembrane region"
     misc_feature    808..870
                     /gene="OR6X1"
                     /gene_synonym="OR11-270"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH79.1);
                     transmembrane region"
ORIGIN
        1 atgagaaatg gcacagtaat cacagaattc atcctgctag gctttcctgt tatccaaggc
       61 ctacaaacac ctctctttat tgcaatcttt ctcacctaca tattaaccct tgcaggcaat
      121 gggcttatta ttgccactgt gtgggctgag cccaggctac aaattccaat gtacttcttc
      181 ctttgtaact tgtctttctt agaaatctgg tacaccacca cagtcatccc caaactgcta
      241 ggaacctttg tagtggcaag aacagtaatc tgcatgtcct gctgcctgct gcaggccttc
      301 ttccacttct tcgtgggcac caccgagttc ttgatcctca ctatcatgtc ttttgaccgc
      361 tacctcacca tctgcaatcc ccttcaccac cccaccatca tgaccagcaa actctgcctg
      421 cagctggccc tgagctcctg ggtggtgggc ttcaccattg tcttttgtca gacgatgctg
      481 ctcatccagt tgccattctg tggcaataat gttatcagtc atttctactg tgatgttggg
      541 cccagtttga aagccgcctg catagacacc agcattttgg aactcctggg cgtcatagca
      601 accatccttg tgatcccagg gtcacttctc tttaatatga tttcttatat ctacattctg
      661 tccgcaatcc tacgaattcc ttcagccact ggccaccaaa agactttctc tacctgtgcc
      721 tcgcacctga cagttgtctc cctgctctac ggggctgttc tgttcatgta cctaagaccc
      781 acagcacact cctcctttaa gattaataag gtggtgtctg tgctaaatac tatcctcacc
      841 ccccttctga atccctttat ttatactatt agaaacaagg aggtgaaggg agccttaaga
      901 aaggcaatga cttgcccaaa gactggtcat gcaaagtaa
//
LOCUS       NM_001005189            5128 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily Y member 1
            (OR6Y1), transcript variant 1, mRNA.
ACCESSION   NM_001005189
VERSION     NM_001005189.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5128)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5128)
  AUTHORS   van der Harst P, Zhang W, Mateo Leach I, Rendon A, Verweij N, Sehmi
            J, Paul DS, Elling U, Allayee H, Li X, Radhakrishnan A, Tan ST, Voss
            K, Weichenberger CX, Albers CA, Al-Hussani A, Asselbergs FW, Ciullo
            M, Danjou F, Dina C, Esko T, Evans DM, Franke L, Gogele M, Hartiala
            J, Hersch M, Holm H, Hottenga JJ, Kanoni S, Kleber ME, Lagou V,
            Langenberg C, Lopez LM, Lyytikainen LP, Melander O, Murgia F, Nolte
            IM, O'Reilly PF, Padmanabhan S, Parsa A, Pirastu N, Porcu E, Portas
            L, Prokopenko I, Ried JS, Shin SY, Tang CS, Teumer A, Traglia M,
            Ulivi S, Westra HJ, Yang J, Zhao JH, Anni F, Abdellaoui A, Attwood
            A, Balkau B, Bandinelli S, Bastardot F, Benyamin B, Boehm BO,
            Cookson WO, Das D, de Bakker PI, de Boer RA, de Geus EJ, de Moor MH,
            Dimitriou M, Domingues FS, Doring A, Engstrom G, Eyjolfsson GI,
            Ferrucci L, Fischer K, Galanello R, Garner SF, Genser B, Gibson QD,
            Girotto G, Gudbjartsson DF, Harris SE, Hartikainen AL, Hastie CE,
            Hedblad B, Illig T, Jolley J, Kahonen M, Kema IP, Kemp JP, Liang L,
            Lloyd-Jones H, Loos RJ, Meacham S, Medland SE, Meisinger C, Memari
            Y, Mihailov E, Miller K, Moffatt MF, Nauck M, Novatchkova M, Nutile
            T, Olafsson I, Onundarson PT, Parracciani D, Penninx BW, Perseu L,
            Piga A, Pistis G, Pouta A, Puc U, Raitakari O, Ring SM, Robino A,
            Ruggiero D, Ruokonen A, Saint-Pierre A, Sala C, Salumets A, Sambrook
            J, Schepers H, Schmidt CO, Sillje HH, Sladek R, Smit JH, Starr JM,
            Stephens J, Sulem P, Tanaka T, Thorsteinsdottir U, Tragante V, van
            Gilst WH, van Pelt LJ, van Veldhuisen DJ, Volker U, Whitfield JB,
            Willemsen G, Winkelmann BR, Wirnsberger G, Algra A, Cucca F, d'Adamo
            AP, Danesh J, Deary IJ, Dominiczak AF, Elliott P, Fortina P, Froguel
            P, Gasparini P, Greinacher A, Hazen SL, Jarvelin MR, Khaw KT,
            Lehtimaki T, Maerz W, Martin NG, Metspalu A, Mitchell BD, Montgomery
            GW, Moore C, Navis G, Pirastu M, Pramstaller PP, Ramirez-Solis R,
            Schadt E, Scott J, Shuldiner AR, Smith GD, Smith JG, Snieder H,
            Sorice R, Spector TD, Stefansson K, Stumvoll M, Tang WH, Toniolo D,
            Tonjes A, Visscher PM, Vollenweider P, Wareham NJ, Wolffenbuttel BH,
            Boomsma DI, Beckmann JS, Dedoussis GV, Deloukas P, Ferreira MA,
            Sanna S, Uda M, Hicks AA, Penninger JM, Gieger C, Kooner JS,
            Ouwehand WH, Soranzo N and Chambers JC.
  TITLE     Seventy-five genetic loci influencing the human red blood cell
  JOURNAL   Nature 492 (7429), 369-375 (2012)
   PUBMED   23222517
REFERENCE   3  (bases 1 to 5128)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641622.1/ ENSP00000492894.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL160283.10 and AL365440.13.
            On Aug 4, 2020 this sequence version replaced NM_001005189.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 both encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5128
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     gene            1..5128
                     /gene="OR6Y1"
                     /gene_synonym="OR1-11; OR6Y2"
                     /note="olfactory receptor family 6 subfamily Y member 1"
                     /db_xref="GeneID:391112"
                     /db_xref="HGNC:HGNC:14823"
     misc_feature    1546..1548
                     /gene="OR6Y1"
                     /gene_synonym="OR1-11; OR6Y2"
                     /note="upstream in-frame stop codon"
     CDS             1573..2550
                     /gene="OR6Y1"
                     /gene_synonym="OR1-11; OR6Y2"
                     /note="olfactory receptor OR1-11; olfactory receptor 6Y2"
                     /codon_start=1
                     /product="olfactory receptor 6Y1"
                     /protein_id="NP_001005189.1"
                     /db_xref="CCDS:CCDS30899.1"
                     /db_xref="GeneID:391112"
                     /db_xref="HGNC:HGNC:14823"
                     /translation="MTTIILEVDNHTVTTRFILLGFPTRPAFQLLFFSIFLATYLLTLL
                     ENLLIILAIHSDGQLHKPMYFFLSHLSFLEMWYVTVISPKMLVDFLSHDKSISFNGCMT
                     QLYFFVTFVCTEYILLAIMAFDRYVAICNPLRYPVIMTNQLCGTLAGGCWFCGLMTAMI
                     KMVFIAQLHYCGMPQINHYFCDISPLLNVSCEDASQAEMVDFFLALMVIAIPLCVVVAS
                     YAAILATILRIPSAQGRQKAFSTCASHLTVVILFYSMTLFTYARPKLMYAYNSNKVVSV
                     LYTVIVPLLNPIIYCLRNHEVKAALRKTIHCRGSGPQGNGAFSS"
     misc_feature    1600..1602
                     /gene="OR6Y1"
                     /gene_synonym="OR1-11; OR6Y2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGX8.1); glycosylation site"
     misc_feature    1663..1725
                     /gene="OR6Y1"
                     /gene_synonym="OR1-11; OR6Y2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX8.1);
                     transmembrane region"
     misc_feature    1750..1812
                     /gene="OR6Y1"
                     /gene_synonym="OR1-11; OR6Y2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX8.1);
                     transmembrane region"
     misc_feature    1885..1947
                     /gene="OR6Y1"
                     /gene_synonym="OR1-11; OR6Y2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX8.1);
                     transmembrane region"
     misc_feature    2005..2067
                     /gene="OR6Y1"
                     /gene_synonym="OR1-11; OR6Y2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX8.1);
                     transmembrane region"
     misc_feature    2143..2145
                     /gene="OR6Y1"
                     /gene_synonym="OR1-11; OR6Y2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGX8.1); glycosylation site"
     misc_feature    2179..2238
                     /gene="OR6Y1"
                     /gene_synonym="OR1-11; OR6Y2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX8.1);
                     transmembrane region"
     misc_feature    2299..2361
                     /gene="OR6Y1"
                     /gene_synonym="OR1-11; OR6Y2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX8.1);
                     transmembrane region"
     misc_feature    2401..2463
                     /gene="OR6Y1"
                     /gene_synonym="OR1-11; OR6Y2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGX8.1);
                     transmembrane region"
ORIGIN
        1 aaccagactt gcccagaaac tctctaggct tatgtacatt gttcttctct tggtctacat
       61 gatttcttct cttttctcag cgcaagctgg ccatctttga taaagctagg tgggaaaagg
      121 gttatattcc tgagaaaatg gaatctaaag ctgaaatcta agtgggaaga ggaaatggat
      181 agtatgggca gtagttttct ggctctgcaa cctcatgatc attccttaaa aaaaaaaaaa
      241 aaccatcccc tagttgtcct acatatttat gccataaaat agagctgttg agaaatgggg
      301 atcaagagtg actgtggctc tggagaagag cagaaaagag aattgaagca ataggacaca
      361 gagcaagact tgaaatggga aggtgtttag tatcaatggg tttgggaatg attatcagcc
      421 taacacaaaa agaggtcaca cattttgcta aattaatgaa cagaaatgca gaagagtcac
      481 taatagaatt cttgcttgtt ttctctgata ttactcccaa cagattacag tttttaaatt
      541 tattaccctt ggaaaagtcc cacggtcctc tccctttttt cattaacaat ggctgctgtt
      601 tgcaccagtt ttttgctgtt tttggcaggg gttgaagttg gggtggggga aactttgtgt
      661 ggggtggagt gtgtgttttt ttaaaaggag gaggagctat gtatgtgggg taagtaaagt
      721 agcctggaaa ggtcacagca aatatcatag gaactgaatt taaactctaa atcccatttg
      781 atgttcacaa aatgtgaacc ccattgtatt atccccattt tagaaataaa gtaactaata
      841 ttctaaaaga ttatgtggta ctctcactta gctatacaaa gacaaaagtt ggatttgaat
      901 gcacttttgt caaactccta agcaagcact ttatacaatg gattgtattg aagaaactat
      961 tacccttcat gttatccatt caattttgtt ctctgaaaag ctggtgaata attgcatcaa
     1021 acctgatttt gctgttaatc ctgtgggtat gctcaactat tgcttcattc aagcttaagc
     1081 acattgttag acacaagcaa gaacgttctc tccattttac agataagtgg ggtcatgcaa
     1141 ccactccaga gtcacccaaa ttgcccctag agaatgggta gttgggcctt ctttctcttc
     1201 tccatattca gcagatgggg atgttttgcc tgtagtgaaa gggtggtctg gagaccattt
     1261 atgtgcccaa aagtgatata ttggtaaagc acagaactgg gatttagaaa gttataaact
     1321 ctattttgta tgaccttgga caagttactg ctcttgagaa aatctgaaaa caagttaaaa
     1381 tataagctcc ctaaattcca tcttttctca aaagctttgg ttctcttcat aattcaagag
     1441 gcagtaagat aaaaaagcag aaacctccta ttgtgataaa tttgctggtg gtgggctcta
     1501 tcaatacaaa taaccataga ctagtgcttg tgtcatggaa ggaactgact ttgtctgtgc
     1561 ccacagccag tcatgaccac cataattctg gaagtagata atcatacagt gacaacacgt
     1621 ttcattcttc tggggtttcc aacacgacca gccttccagc ttctcttttt ctccattttc
     1681 ctggcaacct atctgctgac actgctggag aatcttctta tcatcttagc tatccacagt
     1741 gatgggcagc tgcataagcc catgtacttc ttcttgagcc acctctcctt cctggagatg
     1801 tggtatgtca cagtcatcag ccccaagatg cttgttgact tcctcagtca tgacaagagt
     1861 atttccttca atggctgcat gactcaactt tacttttttg tgacctttgt ctgcactgag
     1921 tacatccttc ttgctatcat ggcctttgac cgctatgtag ccatttgtaa tccactacgc
     1981 tacccagtca tcatgaccaa ccagctctgt ggcacactgg ctggaggatg ctggttctgt
     2041 ggactcatga ctgccatgat taagatggtt tttatagcac aacttcacta ctgtggcatg
     2101 cctcagatca atcactactt ttgtgatatc tctccactcc ttaacgtctc ctgtgaggat
     2161 gcctcacagg ctgagatggt ggacttcttc ttggccctca tggtcattgc tattcctctt
     2221 tgtgttgtgg tggcatccta cgctgctatc cttgccacca tcctcaggat cccttctgct
     2281 cagggccgcc aaaaggcatt ctccacctgt gcctcccacc tgaccgtcgt aattctcttc
     2341 tattccatga cacttttcac ctatgcccgt cccaaactca tgtatgccta caattccaac
     2401 aaagtggtat ctgttctcta cactgtcatt gttccactcc tcaaccccat catttactgt
     2461 ctgaggaacc atgaagtaaa ggcagccctc agaaagacca tacattgcag aggaagtggg
     2521 ccccagggaa atggggcttt cagtagttaa aaaatgtata gattcctttc aggcttgaac
     2581 tgagagatga tcactacaca ctttccccct cagtcttgtc tttggttatc ccccaatctc
     2641 cagtactgta acactgctct cctctgtgtg tgtgtgcatg tgtgtgtgtg tgtatacaca
     2701 atcatgactg gagaaacatg ttctcaagaa gtaacctctg gtatcaggct gagagacaag
     2761 ttttaaaatg ttagaaaagc tatttgaaat caggaagaaa cacagagaga gagacagaga
     2821 gagtgggtgg taggagggag gaaaggagga agatgaatac tttttccaca caacttatca
     2881 aaataaatgc catacaggac aaacaattaa atataaagaa taaaaccatc gttcatctct
     2941 cagatggtta gaaaagggtt tttaaacact ctatattgta gaagtaaaag aaaaagttca
     3001 acataaatta atgcctgtta ggcacagtgg cacatacctg tagtcccagc tactcaagag
     3061 actgaggcag gaggatcccc tgagtccagg aacttgggcc cagcctggtc aacataggga
     3121 gtccccaccc acttccctcc aaataacata aatgactaat ttgttaaggc gtttaaaaac
     3181 aaaagattaa gtttatacca aataacaaag tgaaaactat tactaatttt tattattaat
     3241 gttataataa catataccaa ccttaaatat taaaaaacac tttaaaataa acttataaaa
     3301 attaaactct caatggaaaa acaagttaag tatataaaca taattttaaa aataggtagt
     3361 tgttatgggc aaagttatgt cccactcctc cctccctcca aaaaagtatg ttgtcctaac
     3421 cccagtctct cagaatgtga ccatatttga aagtagggtt tttatagtgg taatcgagct
     3481 aaaatttgac tgctagggtg ggccctaaga caatatgact ggtgtcatta taaaaaggaa
     3541 aaatttggac acagacacac acagaggaaa gacaatgtgc acacacacag ggcagagagc
     3601 aaccatgttt ctgcagtaat gcatctataa gctaaggaag aagtattgct ggcaaacacc
     3661 agaagctaga agcagcaagg aaggatgtta gcctagagct gaaagagaga gagagagtat
     3721 ggccctccca agtactttat ttgtgattcc taagatcaaa aatactgaga cagtatttgg
     3781 tactttttaa tggcagccct aggaaactaa tactggagcc aataaacctc agcaattttt
     3841 aaaaagatat taaaaaacaa aaattgacaa atgggatgta attaaactga caagcttctg
     3901 cacagcaaaa gaaattatca acagagtgaa caaacaacct acagaatgaa aacatttttg
     3961 gcaaaccata caactgacaa aggtctaata ttcagcatct ataaggaact taaacatatt
     4021 tacaagatga aaacaaacaa ctccatttaa aagtgggcaa aggatgtgaa cagacacttt
     4081 tcaaaagaaa acatacatgc agccaacaat catatgaaaa aaaggctcac tgatcattag
     4141 agaaatgaaa atcgaatcca caatgagtgg ttttatttta ttttatttta ttttattatt
     4201 attatacttt aagttttagg gtacatgtgc acaacgtgca ggtttgttac atatgtatac
     4261 atgtgacatg ttggtgtgct gcacccatta actcatcatt tagcattagg tatatctcct
     4321 aatgctatcc ctcccccctc cccccaccca caacattccc cggagtgtga tgttcctgtg
     4381 tccataataa tagccattct aactggtgtg aagtaacgtc taattttgtt accatctaac
     4441 accactccaa atggctatta ctaaaatgta aaaaaataac agatgctggt gaggttgtgg
     4501 agaaaaagga acacgtattc aatgttgttg ggagtgtata ttagttcaat ctatgtaaaa
     4561 gacagtgtaa cgattcctca aagacttaaa aacagaaata ccatttgacc cagcaatccc
     4621 attactgggt atatacctaa aggaatataa atcattctac tataaagaca catgcacatg
     4681 tatgtttatt gcagcactat ttacaatagc gaagacatgg aaccaaccac aatgcccatc
     4741 aataatagac tggataaaga aaatgtgcta catatacaac atgaaatact atgcagccat
     4801 aaaaaaaaat tagatcatgt cctttccggg aacatggatg ggactggagg ccatcacctt
     4861 tagcaaacta atgcaagaac agaaaaccaa ataccacata ttctcacttg taagtaggag
     4921 ctaaatgatg agaactcttg gacacacagt agggaacaca gtaggggccc attagagggt
     4981 gcagggtggg aggaggtaga ggatcaggag aaataactaa tgggtaatag gcttgatacc
     5041 tgggtgacaa aataatctgt acaacaaacc cccataatac aagattacct atataataaa
     5101 cctacacatg tacccctgaa cttaaaat
//
LOCUS       NM_001005190            1847 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 7 subfamily A member 10
            (OR7A10), mRNA.
ACCESSION   NM_001005190
VERSION     NM_001005190.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1847)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1847)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr
            M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano
            A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin
            E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D,
            Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M,
            Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J,
            Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou
            Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J,
            Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP,
            Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers
            S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V,
            Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J,
            Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M,
            Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar
            DS, Myers RM, Rubin EM and Lucas SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
REFERENCE   3  (bases 1 to 1847)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   4  (bases 1 to 1847)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641129.1/ ENSP00000493055.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005255.1.
            On Aug 7, 2020 this sequence version replaced NM_001005190.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1847
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.12"
     gene            1..1847
                     /gene="OR7A10"
                     /gene_synonym="BC85395_3; OR19-18"
                     /note="olfactory receptor family 7 subfamily A member 10"
                     /db_xref="GeneID:390892"
                     /db_xref="HGNC:HGNC:8356"
     misc_feature    394..396
                     /gene="OR7A10"
                     /gene_synonym="BC85395_3; OR19-18"
                     /note="upstream in-frame stop codon"
     CDS             436..1365
                     /gene="OR7A10"
                     /gene_synonym="BC85395_3; OR19-18"
                     /note="olfactory receptor OR19-18; OST027"
                     /codon_start=1
                     /product="olfactory receptor 7A10"
                     /protein_id="NP_001005190.1"
                     /db_xref="CCDS:CCDS32936.1"
                     /db_xref="GeneID:390892"
                     /db_xref="HGNC:HGNC:8356"
                     /translation="MKSWNNTIILEFLLLGISEEPELQAFLFGLFLSMYLVTVLGNLLI
                     ILATISDSHLHTPMYFFLSNLSFVDICFVSTTVPKMLVNIQTHNKVITYAGCITQMCFF
                     LLFVGLDNFLLTVMAYDRFVAICHPLHYMVIMNPQLCGLLVLASWIMSVLNSMLQSLMV
                     LPLPFCTHMEIPHFFCEINQVVHLACSDTFLNDIVMYFAVALLGGGPLTGILYSYSKIV
                     SSIRAISSAQGKYKAFSTCASHLSVVSLFYGTCLGVYLSSAATHNSHTGAAASVMYTVV
                     TPMLNPFIYSLRNKHIKGAMKTFFRGKQ"
     misc_feature    448..450
                     /gene="OR7A10"
                     /gene_synonym="BC85395_3; OR19-18"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O76100.1); glycosylation site"
     misc_feature    511..573
                     /gene="OR7A10"
                     /gene_synonym="BC85395_3; OR19-18"
                     /note="propagated from UniProtKB/Swiss-Prot (O76100.1);
                     transmembrane region"
     misc_feature    598..660
                     /gene="OR7A10"
                     /gene_synonym="BC85395_3; OR19-18"
                     /note="propagated from UniProtKB/Swiss-Prot (O76100.1);
                     transmembrane region"
     misc_feature    733..795
                     /gene="OR7A10"
                     /gene_synonym="BC85395_3; OR19-18"
                     /note="propagated from UniProtKB/Swiss-Prot (O76100.1);
                     transmembrane region"
     misc_feature    853..915
                     /gene="OR7A10"
                     /gene_synonym="BC85395_3; OR19-18"
                     /note="propagated from UniProtKB/Swiss-Prot (O76100.1);
                     transmembrane region"
     misc_feature    1027..1086
                     /gene="OR7A10"
                     /gene_synonym="BC85395_3; OR19-18"
                     /note="propagated from UniProtKB/Swiss-Prot (O76100.1);
                     transmembrane region"
     misc_feature    1147..1209
                     /gene="OR7A10"
                     /gene_synonym="BC85395_3; OR19-18"
                     /note="propagated from UniProtKB/Swiss-Prot (O76100.1);
                     transmembrane region"
     misc_feature    1249..1311
                     /gene="OR7A10"
                     /gene_synonym="BC85395_3; OR19-18"
                     /note="propagated from UniProtKB/Swiss-Prot (O76100.1);
                     transmembrane region"
ORIGIN
        1 gttagacctt tggaaggcag acaaatccat ggagaaggaa taataacgac tcgattcgcc
       61 tgatgtttaa tctgatgtct tgggaactga gtatgcaaga aaaaaatttc tttccatgaa
      121 gagcaatgtc ccacagggac tgaatgtgat caggggttga ataacaggag gaaatgtctc
      181 caatgagcag gcatatgaag ctgtaaattt ctccgctgca ggtgtccctc agcatatgca
      241 accttgggct ggatgggaca tccttgtttc tttcggagtc tatatctgct ggctcagggg
      301 tactgattct ttcctttctc ctactgtctt gtcttgggac acagcctcag tctccaccat
      361 caaccatcca gggaggaatt tgcacttcta gattgagacc ttcatttcag aaaacccaac
      421 aggtcacatc acaagatgaa atcatggaac aatacaataa ttttagaatt tcttctcctg
      481 ggaatttcag aggaaccaga attgcaggcc ttcctctttg ggctgttcct gtccatgtac
      541 ctggtcactg tgctcgggaa cctgctcatc atcctggcca caatctcaga ctcccacctc
      601 cacaccccca tgtacttctt cctctccaac ctgtccttcg tagacatctg ttttgtctct
      661 accactgtcc cgaagatgct ggtgaacatc cagacacaca acaaagtcat cacctatgca
      721 ggctgcatca cccagatgtg ctttttctta ctctttgtag gattggataa cttccttctg
      781 accgtgatgg cctatgaccg gtttgtggcc atctgtcacc ctctgcacta catggtcatt
      841 atgaaccctc aactctgtgg actgctggtt ctggcatcct ggatcatgag tgttctgaat
      901 tccatgttac aaagcttaat ggtgttgcca ctgccctttt gtacacacat ggaaatccct
      961 cattttttct gtgaaattaa tcaggtggtc caccttgcct gttctgacac ctttcttaat
     1021 gacatagtga tgtattttgc agtagcgctg ctgggcggtg gtcccctcac tgggatcctg
     1081 tactcttact ctaagatagt ttcctccata cgtgcaatct catcagctca ggggaagtat
     1141 aaggcatttt ccacctgtgc atctcacctc tcagttgtct ccttatttta tggtacatgc
     1201 ttaggggtgt accttagttc tgctgccacc cacaattcac acacaggtgc tgcagcctca
     1261 gtgatgtaca ctgtggtcac ccccatgctg aaccccttca tctacagtct gaggaataaa
     1321 cacataaagg gtgctatgaa aacattcttc agaggaaagc aatagaaagg ctatttttca
     1381 agaaaggcct gtgacttcag agctctaagc cccagagcca gaaatggtga tttgttaata
     1441 agatggtgga aggaagactt gccccttcca tttatttcct ggagtttaaa cttctttgtt
     1501 cctcaactac tttatagagc ttacactgtt cttcttagag tcagagatga ccttaaatat
     1561 gacggaatat aattttcaat catacatgaa ataactatgg aatatttgtt ttcgttgggg
     1621 tacatctact cattgaagta gaggagcctg gtgtccacgc gtcactaggt ttgttcatct
     1681 gagtgaagga ttgagtgcca tggtgtatgt aatgtccttg catcactctg ctacttctgc
     1741 ctaatgtttt ccagtgctgc ctacaaatat gactccttcc attgtcctaa catctcttcc
     1801 ttaaaaatgt cataagcatc aaagtgttga caagtgaaca atatatg
//
LOCUS       NM_001005191            4965 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 7 subfamily D member 4
            (OR7D4), mRNA.
ACCESSION   NM_001005191
VERSION     NM_001005191.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4965)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 4965)
  AUTHORS   Hornung J, Noack H, Thomas M, Farger G, Nieratschker V, Freiherr J
            and Derntl B.
  TITLE     Bayesian informed evidence against modulation of
            androstadienone-effects by genotypic receptor variants and
            participant sex: A study assessing Stroop interference control, mood
            and olfaction
  JOURNAL   Horm Behav 98, 45-54 (2018)
   PUBMED   29246659
  REMARK    GeneRIF: Impact of genotypic variations of the androstadienone
            (AND)-receptor OR7D4, as well as the influence of participant sex
            and concomitant hormonal fluctuations on AND-action during emotional
            interference processing, olfactory performance and mood assessments.
REFERENCE   3  (bases 1 to 4965)
  AUTHORS   Hoover KC, Gokcumen O, Qureshy Z, Bruguera E, Savangsuksa A, Cobb M
            and Matsunami H.
  TITLE     Global Survey of Variation in a Human Olfactory Receptor Gene
            Reveals Signatures of Non-Neutral Evolution
  JOURNAL   Chem Senses 40 (7), 481-488 (2015)
   PUBMED   26072518
  REMARK    GeneRIF: results suggest non-neutral evolution for an olfactory
            receptor gene
REFERENCE   4  (bases 1 to 4965)
  AUTHORS   Choquette AC, Bouchard L, Drapeau V, Lemieux S, Tremblay A, Bouchard
            C, Vohl MC and Perusse L.
  TITLE     Association between olfactory receptor genes, eating behavior traits
            and adiposity: results from the Quebec Family Study
  JOURNAL   Physiol Behav 105 (3), 772-776 (2012)
   PUBMED   22044667
  REMARK    GeneRIF: This study suggested that OR7D4 sequence variant (rs2878329
            G>A) showed evidence of association with reduced levels of adiposity
            (p=0.03), cognitive dietary restraint (p=0.05) and susceptibility to
            hunger (p=0.008).
REFERENCE   5  (bases 1 to 4965)
  AUTHORS   Lunde K, Egelandsdal B, Skuterud E, Mainland JD, Lea T, Hersleth M
            and Matsunami H.
  TITLE     Genetic variation of an odorant receptor OR7D4 and sensory
            perception of cooked meat containing androstenone
  JOURNAL   PLoS One 7 (5), e35259 (2012)
   PUBMED   22567099
  REMARK    GeneRIF: Data is consistent with the idea that OR7D4 genotype
            predicts the sensory perception of meat containing androstenone and
            that genetic variation in an odorant receptor can alter food
            preferences.
REFERENCE   6  (bases 1 to 4965)
  AUTHORS   Sookoian S, Burgueno A, Gianotti TF, Marillet G and Pirola CJ.
  TITLE     Odor perception between heterosexual partners: its association with
            depression, anxiety, and genetic variation in odorant receptor OR7D4
  JOURNAL   Biol Psychol 86 (3), 153-157 (2011)
   PUBMED   21093532
  REMARK    GeneRIF: The results suggested that odor perception between
            heterosexual partners may have an impact on the development of
            depression and anxiety, and that it might be influenced by genetic
            variation in OR7D4.
REFERENCE   7  (bases 1 to 4965)
  AUTHORS   Keller A, Zhuang H, Chi Q, Vosshall LB and Matsunami H.
  TITLE     Genetic variation in a human odorant receptor alters odour
            perception
  JOURNAL   Nature 449 (7161), 468-472 (2007)
   PUBMED   17873857
  REMARK    GeneRIF: Genotypic variation in OR7D4 accounts for a significant
            proportion of the valence (pleasantness or unpleasantness) and
            intensity variance in perception of these steroidal odours
REFERENCE   8  (bases 1 to 4965)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   9  (bases 1 to 4965)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641669.1/ ENSP00000493383.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011464.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 6, 2020 this sequence version replaced NM_001005191.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..4965
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..4965
                     /gene="OR7D4"
                     /gene_synonym="hg105; OR19-7; OR19-B; OR19B; OR7D4P"
                     /note="olfactory receptor family 7 subfamily D member 4"
                     /db_xref="GeneID:125958"
                     /db_xref="HGNC:HGNC:8380"
                     /db_xref="MIM:611538"
     misc_feature    359..361
                     /gene="OR7D4"
                     /gene_synonym="hg105; OR19-7; OR19-B; OR19B; OR7D4P"
                     /note="upstream in-frame stop codon"
     CDS             404..1342
                     /gene="OR7D4"
                     /gene_synonym="hg105; OR19-7; OR19-B; OR19B; OR7D4P"
                     /note="olfactory receptor, family 7, subfamily D, member 4
                     pseudogene; olfactory receptor OR19-7; odorant receptor
                     family 7 subfamily D member 4 RT"
                     /codon_start=1
                     /product="olfactory receptor 7D4"
                     /protein_id="NP_001005191.1"
                     /db_xref="CCDS:CCDS32901.1"
                     /db_xref="GeneID:125958"
                     /db_xref="HGNC:HGNC:8380"
                     /db_xref="MIM:611538"
                     /translation="MEAENLTELSKFLLLGLSDDPELQPVLFGLFLSMYLVTVLGNLLI
                     ILAVSSDSHLHTPMYFFLSNLSFVDICFISTTVPKMLVSIQARSKDISYMGCLTQVYFL
                     MMFAGMDTFLLAVMAYDRFVAICHPLHYTVIMNPCLCGLLVLASWFIIFWFSLVHILLM
                     KRLTFSTGTEIPHFFCEPAQVLKVACSNTLLNNIVLYVATALLGVFPVAGILFSYSQIV
                     SSLMGMSSTKGKYKAFSTCGSHLCVVSLFYGTGLGVYLSSAVTHSSQSSSTASVMYAMV
                     TPMLNPFIYSLRNKDVKGALERLLSRADSCP"
     misc_feature    416..418
                     /gene="OR7D4"
                     /gene_synonym="hg105; OR19-7; OR19-B; OR19B; OR7D4P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NG98.1); glycosylation site"
     misc_feature    479..541
                     /gene="OR7D4"
                     /gene_synonym="hg105; OR19-7; OR19-B; OR19B; OR7D4P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG98.1);
                     transmembrane region"
     misc_feature    566..628
                     /gene="OR7D4"
                     /gene_synonym="hg105; OR19-7; OR19-B; OR19B; OR7D4P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG98.1);
                     transmembrane region"
     misc_feature    701..763
                     /gene="OR7D4"
                     /gene_synonym="hg105; OR19-7; OR19-B; OR19B; OR7D4P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG98.1);
                     transmembrane region"
     misc_feature    821..883
                     /gene="OR7D4"
                     /gene_synonym="hg105; OR19-7; OR19-B; OR19B; OR7D4P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG98.1);
                     transmembrane region"
     misc_feature    995..1054
                     /gene="OR7D4"
                     /gene_synonym="hg105; OR19-7; OR19-B; OR19B; OR7D4P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG98.1);
                     transmembrane region"
     misc_feature    1115..1177
                     /gene="OR7D4"
                     /gene_synonym="hg105; OR19-7; OR19-B; OR19B; OR7D4P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG98.1);
                     transmembrane region"
     misc_feature    1217..1279
                     /gene="OR7D4"
                     /gene_synonym="hg105; OR19-7; OR19-B; OR19B; OR7D4P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG98.1);
                     transmembrane region"
ORIGIN
        1 gcttcctagg aacagatcgt gtagaagaga aaacttcagt gataaccatc agagttagtg
       61 tgacccagtg agggctggtg gggtaagaag gaaaagagga gagagaataa gtactagcct
      121 tcacagtaat gagcctggaa agtcccatac ttattgagtc tatgaaggtg aagtccctgt
      181 actttgatgg tactttagtt ttcacagaaa ccagtgtctc ccaccttctg ttctcactcc
      241 ttggaatcca gggcccgtct ttaataagtt attttccgaa cagtctctaa ctctcctgca
      301 ctctttccta taaactttag tctcctgttg aatttcgtac atccagttac ttattcatta
      361 actactcacg gaagatctac tatgctcaag acacaacagc tacatggaag cagaaaacct
      421 tacagaatta tcaaaatttc tcctcctggg actctcagat gatcctgaac tgcagcccgt
      481 cctctttggg ctgttcctgt ccatgtacct ggtcacggtg ctggggaacc tgctcatcat
      541 tctggccgtc agctctgact cccacctcca cacccccatg tacttcttcc tctccaacct
      601 gtcctttgtt gacatctgtt tcatctccac cacagtcccc aagatgctag tgagcatcca
      661 ggcacggagc aaagacatct cctacatggg gtgcctcact caggtgtatt ttttaatgat
      721 gtttgctgga atggatactt tcctactggc cgtgatggcc tatgaccggt ttgtggccat
      781 ctgccaccca ctgcactaca cggtcatcat gaacccctgc ctctgtggcc tcctggttct
      841 ggcatcttgg ttcatcattt tctggttctc cctggttcat attctactga tgaagaggtt
      901 gaccttctcc acaggcactg agattccgca tttcttctgt gaaccggctc aggtcctcaa
      961 ggtggcctgc tctaacaccc tcctcaataa cattgtcttg tatgtggcca cggcactgct
     1021 gggtgtgttt cctgtagctg ggatcctctt ctcctactct cagattgtct cctccttaat
     1081 gggaatgtcc tccaccaagg gcaagtacaa agccttttcc acctgtggat ctcacctctg
     1141 tgtggtctcc ttgttctatg gaacaggact tggggtctat ctgagttctg ctgtgaccca
     1201 ttcttcccag agcagctcca ccgcctcagt gatgtacgcc atggtcaccc ccatgctgaa
     1261 ccccttcatc tacagcctga ggaacaagga tgtgaagggg gccctggaaa gactcctcag
     1321 cagggccgac tcttgtccat gacaaatcag ggcctcagaa ctaagaggac acactgcgta
     1381 cccctaaggc aaatgttgtg ggtttaaata tccggctctt tttctctttt aaaaaatgtg
     1441 cttgatgtgg gatttttggt tgttgttatt gggttgtttg ttgttgttat tgttattgtt
     1501 tttgagacag agtctggctc tgtcgcccag gctagagtgc agtggtgcaa tcttggctca
     1561 ctgcaacctc tacctcccag gttgaagcgg ttctcctgcc tcagcctctc aagtagctga
     1621 gattacaggt gtgtgccacc acagccagct aatttttgta tttttagtag agacagggtt
     1681 ccaccatact gttcaggctg gtctggaact cctgacctca tgatctgcct gcctcagcct
     1741 cccaaagtgc taggattaca agcgtgagcc accgtgcctg gccaatgtgt ttctttcttt
     1801 tctttttttt tttaatcaaa aacaactatg attttgcttt tgtttttgtg ttagtttctc
     1861 ctaaaaactc cctctgtaag ccctttttga cttttcttcc ctagatgttt cccataaagt
     1921 tccatctttg atcagttttc ttaccactct ttctgagact tctaatttga tgtgtatggc
     1981 actcccaata tcaagtgctg acctggtttc ctcaaaaatt atcctgttga atgttgatgt
     2041 tcctcacctt agtatagttt tttcttgtcc tctggatagg aaataaaatg aaaaccatag
     2101 attagtcgta taaaatgttt acaatatcag gacagtgctt gttgctttac atgtctgatg
     2161 ttattcaatc ctgaaaacat ttcgtgagaa attttgtctc attcactgca tttctcaaag
     2221 gaggagactg agatggaggt agagtatatc ctaacaatct gacactttgc ccacacttct
     2281 aactttgcca tcctactttc cataaaaaca gtgatataaa attttcgggg cacagtggct
     2341 cacacctgtc ttcccagcta cttggagggc tgaggcagga gaatcactgg agcctaggag
     2401 tttgaggctg tagtgagctg tgatcgtggc actgcaatcc agcctgggtg acagagcaag
     2461 accctgtctc aaaccaaaaa caaacacaaa agcaaagaat gataatgtga ttttcaactt
     2521 caaattatga ctctatattt gaaagctggt tgggtcaaat ggttcctagt aatatactgg
     2581 ccagaatgag tctgacatgc tatccctttg aaatacaagc cctataagcc cacagaaatc
     2641 agagccgtgg aatctgggag cacaaacccc ttaggtgtct cactacaggt gatgttaggc
     2701 agggccaatc ttgttccaac tcttgatttc cgggccattg tattctatat cataaagata
     2761 ttatcatttt gatggtatca aaagatatta tcatttttca ctgatttgga atgcatacta
     2821 atcctaattt gcatcctgca aatttggtag ccagtatttt ctgtttattc aaatacctgc
     2881 aataaatatt tgtctttgaa ataaaactca ggtggcagag gttgcagtga gctgagattg
     2941 tgccactgca ctccagcctg ggcgacagag caagactctg tctaaaacat aaaacaaaat
     3001 aaataaataa aacaaaataa cttagaaagt ataattgcat tgtttgtaac tctaaagata
     3061 aatagttgag ggatgaatac ctcattctcc acgatgtggt tatttcacat tgcattcctg
     3121 tatcaaaacg tttcatctac cccataaata tatacagcta ctatctacgc acaaaaatta
     3181 aaaatgtttt aaaacatttt taaagaaaaa taaaagtaga agaggagaaa agtgaatgac
     3241 cattgaagga acagggcttc ctcttctcat taaaacctct tctgtcctct gagttcccac
     3301 caccaagttt cagagacagt gacaaaccac atcagatttt tttttaattt taaaatgaaa
     3361 tgggagtcat atctgcaaat ccattgaatg aaccatgtaa ataaagaaga agcaggcctt
     3421 ccatgagaag aatatgttgc accttttttt tttttttttt ttttttgaga tggagtcttg
     3481 ctctgtcgcc caggctagag cacagtggcg ctgggattac aggcgcacgc caccatgccc
     3541 ggctaatctt ttgtattttt agtagagatg gggtttcacc atgctggcca ggctggtctc
     3601 aaactcctga cctcgtgatc cacccgcctc ggcctcccaa agtgctggga ttacaggcat
     3661 gacccaccac acccagccac tactttcatt cttgaagttc agatttatgt ttctaaggag
     3721 gactttctat tttactttct atactccttg cctgtaattt gagattttat gcattggtaa
     3781 tttatgtttt tgctaagttg gataagaccc taattctttc tgtctgattg atctatgttg
     3841 gcatgttaga aactgctgat ctttgcagcc taacttggta actttatata ttgcttaagc
     3901 atttccccat atctaacaag actgcaatca gatgtcagcc agggttgcag tcatctcgtg
     3961 gactgactgg agaggatctg ctgtgaagct cactcacatg gctgtttgta gggtttaggt
     4021 tcttgcagga caatggccta aggcccctca gtttgttgcc acaagggact ctcatggggc
     4081 agctcacata tgccagctga gttctgtcag tgcagggaag caagggacag agcaacagag
     4141 gccaggccta tccttctacc aggacatggg tctctaagca cccaagacca tggagatttc
     4201 cctctgcctt ccggtagagt tcctcaccat tcaagacatt gtactgtcag aaaaattcca
     4261 tgctgtagaa ctggcacatg gacatgtcgc cctttcctct gcactggata tttctacaga
     4321 cttaacaatg ttctcctgga ccttcagaca aaataagcca ccctggttct ccttcgccac
     4381 aagctctcag cccaacatca caataagctg ctgcaattct gcacctaaat tcagcaagtg
     4441 ttcccagcag cttctgattg ttgctcatca agaaagagct catctcactt caggcggaga
     4501 actccctagt gtagactctg tgttgtgtgt gttgtgtgtg tgtgtgtgtg tgtgagatca
     4561 cctagtaaat tctttaatga aatgtacttt cttttggcct gtctttattc aagtagataa
     4621 aataggttgt atggaagtta tggagttttt gttttgtttt gttttgagat gtcttgctct
     4681 gttgcccaag ctgcagtgaa gcggctcagt catagctcac tgcagccttg aattcctggc
     4741 ctcaagtaat cctcctgcgc caccatgtcc aggtaattta ttttatttta tttttttgta
     4801 gagatggagt cttgctatgt tgcccaggct ggtcttgaac ttctggtctc aagtgaccct
     4861 cctgcttcag cctcccaaag tggtgagatt gtaggtacag accaccatgc ccagccagat
     4921 attatggttc tttataaact ttcacattcc acccatggct cagag
//
LOCUS       NM_001005192             936 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 7 subfamily G member 1
            (OR7G1), mRNA.
ACCESSION   NM_001005192
VERSION     NM_001005192.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 936)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 936)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000541538.1/ ENSP00000444134.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011464.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 15, 2010 this sequence version replaced NM_001005192.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The genomic coordinates were based on alignments.
FEATURES             Location/Qualifiers
     source          1..936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..936
                     /gene="OR7G1"
                     /gene_synonym="OR19-15; OR19-8; OR7G1P"
                     /note="olfactory receptor family 7 subfamily G member 1"
                     /db_xref="GeneID:125962"
                     /db_xref="HGNC:HGNC:8465"
     CDS             1..936
                     /gene="OR7G1"
                     /gene_synonym="OR19-15; OR19-8; OR7G1P"
                     /note="olfactory receptor OR19-8; olfactory receptor 19-15"
                     /codon_start=1
                     /product="olfactory receptor 7G1"
                     /protein_id="NP_001005192.2"
                     /db_xref="CCDS:CCDS32898.2"
                     /db_xref="GeneID:125962"
                     /db_xref="HGNC:HGNC:8465"
                     /translation="MGPRNQTAVSEFLLMKVTEDPELKLIPFSLFLSMYLVTILGNLLI
                     LLAVISDSHLHTPMYFLLFNLSFTDICLTTTTVPKILVNIQAQNQSITYTGCLTQICLV
                     LVFAGLESCFLAVMAYDRYVAICHPLRYTVLMNVHFWGLLILLSMFMSTMDALVQSLMV
                     LQLSFCKNVEIPLFFCEVVQVIKLACSDTLINNILIYFASSVFGAIPLSGIIFSYSQIV
                     TSVLRMPSARGKYKAFSTCGCHLSVFSLFYGTAFGVYISSAVAESSRITAVASVMYTVV
                     PQMMNPFIYSLRNKEMKKALRKLIGRLFPF"
     misc_feature    13..15
                     /gene="OR7G1"
                     /gene_synonym="OR19-15; OR19-8; OR7G1P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGA0.2); glycosylation site"
     misc_feature    88..150
                     /gene="OR7G1"
                     /gene_synonym="OR19-15; OR19-8; OR7G1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA0.2);
                     transmembrane region"
     misc_feature    172..234
                     /gene="OR7G1"
                     /gene_synonym="OR19-15; OR19-8; OR7G1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA0.2);
                     transmembrane region"
     misc_feature    265..267
                     /gene="OR7G1"
                     /gene_synonym="OR19-15; OR19-8; OR7G1P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGA0.2); glycosylation site"
     misc_feature    292..354
                     /gene="OR7G1"
                     /gene_synonym="OR19-15; OR19-8; OR7G1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA0.2);
                     transmembrane region"
     misc_feature    400..462
                     /gene="OR7G1"
                     /gene_synonym="OR19-15; OR19-8; OR7G1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA0.2);
                     transmembrane region"
     misc_feature    589..651
                     /gene="OR7G1"
                     /gene_synonym="OR19-15; OR19-8; OR7G1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA0.2);
                     transmembrane region"
     misc_feature    733..795
                     /gene="OR7G1"
                     /gene_synonym="OR19-15; OR19-8; OR7G1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA0.2);
                     transmembrane region"
     misc_feature    808..870
                     /gene="OR7G1"
                     /gene_synonym="OR19-15; OR19-8; OR7G1P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA0.2);
                     transmembrane region"
ORIGIN
        1 atgggaccca gaaaccaaac agctgtttca gaatttcttc tcatgaaagt gacagaggac
       61 ccagaactga agttaatccc tttcagcctg ttcctgtcca tgtacctggt caccatcctg
      121 gggaacctgc tcattctcct ggctgtcatc tctgactccc acctccacac ccccatgtac
      181 ttccttctct ttaatctctc ctttactgac atctgtttaa ccacaaccac agtcccaaag
      241 atcctagtga acatccaagc tcagaatcag agtatcactt acacaggctg cctcacccag
      301 atctgtcttg tcttggtttt tgctggcttg gaaagttgct ttcttgcagt catggcctac
      361 gaccgctatg tggccatttg ccacccactg aggtacacag tcctcatgaa tgtccatttc
      421 tggggcttgc tgattcttct ctccatgttc atgagcacta tggatgccct ggttcagagt
      481 ctgatggtat tgcagctgtc cttctgcaaa aacgttgaaa tccctttgtt cttctgtgaa
      541 gtcgttcagg tcatcaagct cgcctgttct gacaccctca tcaacaacat cctcatatat
      601 tttgcaagta gtgtatttgg tgcaattcct ctctctggaa taattttctc ttattctcaa
      661 atagtcacct ctgttctgag aatgccatca gcaagaggaa agtataaagc gttttccacc
      721 tgtggctgtc acctctctgt tttttccttg ttctatggga cagcttttgg ggtgtacatt
      781 agttctgctg ttgctgagtc ttcccgaatt actgctgtgg cttcagtgat gtacactgtg
      841 gtccctcaaa tgatgaaccc cttcatctac agcctgagaa ataaggagat gaagaaagct
      901 ttgaggaaac ttattggtag gctgtttcct ttttag
//
LOCUS       NM_001005193            3015 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 7 subfamily G member 2
            (OR7G2), mRNA.
ACCESSION   NM_001005193
VERSION     NM_001005193.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3015)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 3015)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641081.1/ ENSP00000492896.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011464.5.
            On Jan 13, 2021 this sequence version replaced NM_001005193.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..3015
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..3015
                     /gene="OR7G2"
                     /gene_synonym="OR19-6; OST260"
                     /note="olfactory receptor family 7 subfamily G member 2"
                     /db_xref="GeneID:390882"
                     /db_xref="HGNC:HGNC:8466"
     CDS             179..1153
                     /gene="OR7G2"
                     /gene_synonym="OR19-6; OST260"
                     /note="olfactory receptor OR19-6; OR19-13; olfactory
                     receptor 19-13"
                     /codon_start=1
                     /product="olfactory receptor 7G2"
                     /protein_id="NP_001005193.2"
                     /db_xref="CCDS:CCDS32897.2"
                     /db_xref="GeneID:390882"
                     /db_xref="HGNC:HGNC:8466"
                     /translation="MEARNQTAISKFLLLGLIEDPELQPVLFSLFLSMYLVTILGNLLI
                     LLAVISDSHLHTPMYFFLSNLSFLDICLSTTTIPKMLVNIQAQNRSITYSGCLTQICFV
                     LFFAGLENCLLAAMAYDRYVAICHPLRYTVIMNPRLCGLLILLSLLTSVVNALLLSLMV
                     LRLSFCTDLEIPLFFCELAQVIQLTCSDTLINNILIYFAACIFGGVPLSGIILSYTQIT
                     SCVLRMPSASGKHKAVSTCGSHLSIVLLFYGAGLGVYISSVVTDSPRKTAVASVMYSVF
                     PQMVNPFIYSLRNKDMKGTLRKFIGRIPSLLWCAICFGFRFLE"
     misc_feature    191..193
                     /gene="OR7G2"
                     /gene_synonym="OR19-6; OST260"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NG99.1); glycosylation site"
     misc_feature    254..316
                     /gene="OR7G2"
                     /gene_synonym="OR19-6; OST260"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG99.1);
                     transmembrane region"
     misc_feature    341..403
                     /gene="OR7G2"
                     /gene_synonym="OR19-6; OST260"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG99.1);
                     transmembrane region"
     misc_feature    443..445
                     /gene="OR7G2"
                     /gene_synonym="OR19-6; OST260"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NG99.1); glycosylation site"
     misc_feature    476..538
                     /gene="OR7G2"
                     /gene_synonym="OR19-6; OST260"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG99.1);
                     transmembrane region"
     misc_feature    596..658
                     /gene="OR7G2"
                     /gene_synonym="OR19-6; OST260"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG99.1);
                     transmembrane region"
     misc_feature    770..829
                     /gene="OR7G2"
                     /gene_synonym="OR19-6; OST260"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG99.1);
                     transmembrane region"
     misc_feature    890..952
                     /gene="OR7G2"
                     /gene_synonym="OR19-6; OST260"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG99.1);
                     transmembrane region"
     misc_feature    992..1054
                     /gene="OR7G2"
                     /gene_synonym="OR19-6; OST260"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NG99.1);
                     transmembrane region"
ORIGIN
        1 gggatataga cagtgcaaca agtcaggctg taagcacctc actgaacatc tcttacccag
       61 ctcggaagct gcatcagaac ctccttccag acatgatatt tttgaccagg actcgagtct
      121 gtctgcactt cctgaggata gatcatcctc tgcaatatcc atattcatca tcaacagcat
      181 ggaagcgaga aaccaaacag ctatttcaaa attccttctc ctgggactga tagaggatcc
      241 ggaactgcag cccgtccttt tcagcctgtt cctgtccatg tacttggtca ccatcctggg
      301 gaacctgctc atcctcttgg ctgtcatctc tgactctcac ctccacaccc ccatgtactt
      361 cttcctctcc aatctctcct ttttggacat ttgtttaagc acaaccacga tcccaaagat
      421 gctggtgaac atccaagctc agaatcggag catcacgtac tcaggctgcc tcacccagat
      481 ctgctttgtc ttgttttttg ctggcttgga aaattgtctc cttgcagcaa tggcctatga
      541 ccgctatgtg gccatttgtc acccccttag atacacagtc atcatgaacc cccgcctctg
      601 tggcctgctg attcttctct ctctgttgac tagtgttgtg aatgcccttc ttctcagcct
      661 gatggtgttg aggctgtcct tctgcacaga cctggaaatc ccgctcttct tctgtgaact
      721 ggctcaggtc atccaactca cctgttcaga caccctcatc aataacatcc tgatatattt
      781 tgcagcttgc atatttggtg gtgttcctct gtctggaatc attttgtctt acactcagat
      841 cacctcctgt gttttgagaa tgccatcagc aagtggaaag cacaaagcag tttccacctg
      901 tgggtctcac ctctccattg ttctcttgtt ctatggggca ggtttggggg tgtacattag
      961 ttctgtggtt actgactcac ctaggaagac tgcagtggct tcagtgatgt attctgtgtt
     1021 ccctcaaatg gtgaacccct ttatctatag tctgaggaat aaggacatga aaggaacctt
     1081 gaggaagttc atagggagga taccttctct tctgtggtgt gccatttgct ttggattcag
     1141 gtttctagag taagtcaaag tgacaggatt cctggtgagc tagaatgcct gactctttgt
     1201 tttgttttgt ttttttctct gagatggagt ctttctctgt ctcccaggct ggagtgcaat
     1261 ggcacgacct cggctcactg caacttccgc ctccgggttc aagccatcct cctgcctcag
     1321 cctcctgagt agtggggatt acaggcgcct gccaccatgc ctggctaatt tttgtatttt
     1381 tagtagagat agagtttcac catgttggcc aggctggtct caaactcctg acgtcaggtg
     1441 atccacccgc ctcggcctcc caaagtgctg ggattacagg cgtgagacaa tgcgcccagc
     1501 ctgcctgact ctttcatcac caagttcttc taaaatgtct agatgacata aaagccaact
     1561 acatttccac tccggcttga aatctgactt tgctttttat gtctggatct gtgatgatgg
     1621 acatgtgatt ttaattctct agactcaatt tctttgctca ggccatagac tcagaggctg
     1681 agcccaagtt atttatttat ttatttagag acagagtctc gctctgtcgg ccaggctgga
     1741 gtgcagtggt gtgatctcgg ctcactgtaa tctctgcctc ccaggttcaa gcgattctcc
     1801 cgcctcagcc tactgagtag ctgggactac aggtgcacga caccacaccc ggctaatttt
     1861 tgtactttta gtagaggtga ggtttcatca tgctggccag ggtggtctcg atctcctgac
     1921 cttgtgatcc attcgcctcg gcctcccaaa gttctgggat tactgggatt agaggcgtga
     1981 gccaccgctc ctggctaagt gatttttttt taatggatta gtctcagaag aagaaaagtt
     2041 gtggaaggta gatagttcag gaggataggt caggaaaatg tatttttggt tttttgttta
     2101 gtttaggttt tttgtttttt gttttgctga gacggagtct tgctctgtcc accaggctgg
     2161 agtgcaatgg cgcaatctcg gctaactgca acctccgcct tctgggttca agcgattctc
     2221 ctacctcagg ctcccaagta gctgggcagt tttgtttttt gtttcttttt ttccatagac
     2281 agggtcttgc tttgtcacct aggctggaat gcaatgacat gatcatagct ccctgcagcc
     2341 ccaaactcca ggactccagg gctcaaactc cagggaccct cctacctcag cctcctagga
     2401 agctaggact ccaggcatgc accaccacgt ccagtgtggg gtgtggtgta gagatggact
     2461 ctggctatgt tgcccaggtt ggtctcaaaa cctaggttca agtgatcctc ctgccatggc
     2521 ctcccaaaga tctgagatta gtggtgaagt cactgtgcgc tgccaggaaa aggatttaag
     2581 cgaggttgtt gttatatctg gagacaagct tccaccttat tgcgtattta gggtcttgtc
     2641 aattgcaccc cagtgtagac ctacagtggg tcaagggagc taagttttca tacccaattt
     2701 agtaactact gggaccagtc actggtaaac tatattctcc ctagacaaca ttagcatcta
     2761 ttatactcag ttttatcatc aaaaaattag catgattaga ttatcttagt gatttgagat
     2821 tattgtgaga tatttgaact tcataagtga ggatacctta ggttccagtt taaagaatag
     2881 gagccctggg ctgggcacag tggctcacac ctgtaatccc agcactttgg gaggccaagg
     2941 tgggtggatc acttgaggtc aggagttcaa aactggcctg gcccacgtgg tgaaacccca
     3001 tctctactaa aaata
//
LOCUS       NM_001005194            1378 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily A member 1
            (OR8A1), mRNA.
ACCESSION   NM_001005194
VERSION     NM_001005194.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1378)
  AUTHORS   Otowa T, Maher BS, Aggen SH, McClay JL, van den Oord EJ and Hettema
            JM.
  TITLE     Genome-wide and gene-based association studies of anxiety disorders
            in European and African American samples
  JOURNAL   PLoS One 9 (11), e112559 (2014)
   PUBMED   25390645
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1378)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 1378)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript is intronless         :: BC137197.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000284287.6/ ENSP00000284287.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC137197.1 and BI093413.1.
            On Nov 7, 2018 this sequence version replaced NM_001005194.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1378
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..1378
                     /gene="OR8A1"
                     /gene_synonym="OR11-318; OST025"
                     /note="olfactory receptor family 8 subfamily A member 1"
                     /db_xref="GeneID:390275"
                     /db_xref="HGNC:HGNC:8469"
     misc_feature    49..51
                     /gene="OR8A1"
                     /gene_synonym="OR11-318; OST025"
                     /note="upstream in-frame stop codon"
     misc_feature    73..75
                     /gene="OR8A1"
                     /gene_synonym="OR11-318; OST025"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MGFLSPMHPCRPPTQRR"
     misc_feature    91..93
                     /gene="OR8A1"
                     /gene_synonym="OR11-318; OST025"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MHPCRPPTQRR"
     CDS             124..1053
                     /gene="OR8A1"
                     /gene_synonym="OR11-318; OST025"
                     /note="olfactory receptor OR11-318"
                     /codon_start=1
                     /product="olfactory receptor 8A1"
                     /protein_id="NP_001005194.2"
                     /db_xref="CCDS:CCDS31712.2"
                     /db_xref="GeneID:390275"
                     /db_xref="HGNC:HGNC:8469"
                     /translation="MAAGNHSTVTEFILKGLTKRADLQLPLFLLFLGIYLVTIVGNLGM
                     ITLICLNSQLHTPMYYFLSNLSLMDLCYSSVITPKMLVNFVSEKNIISYAGCMSQLYFF
                     LVFVIAECYMLTVMAYDRYVAICHPLLYNIIMSHHTCLLLVAVVYAIGLIGSTIETGLM
                     LKLPYCEHLISHYFCDILPLMKLSCSSTYDVEMTVFFSAGFNIIVTSLTVLVSYTFILS
                     SILGISTTEGRSKAFSTCSSHLAAVGMFYGSTAFMYLKPSTISSLTQENVASVFYTTVI
                     PMLNPLIYSLRNKEVKAAVQKTLRGKLF"
     regulatory      1352..1357
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR8A1"
                     /gene_synonym="OR11-318; OST025"
                     /note="hexamer: AATAAA"
     polyA_site      1378
                     /gene="OR8A1"
                     /gene_synonym="OR11-318; OST025"
                     /note="major polyA site"
ORIGIN
        1 catcagcaga gagcccagga tgtttcacta gcaccaaagg ctcaagacta gccgtccaag
       61 attagccttt taatggggtt cttgtctccc atgcatccct gcaggcctcc cacccagagg
      121 agaatggctg caggaaatca ctctacagtg acagagttca ttctcaaggg tttaacgaag
      181 agagcagacc tccagctccc cctctttctc ctcttcctcg ggatctactt ggtcaccatc
      241 gtggggaacc tgggcatgat cactctaatt tgtctgaact ctcagctgca cacccccatg
      301 tactactttc tcagcaatct gtcactcatg gatctctgct actcctccgt cattacccct
      361 aagatgctgg tgaactttgt gtcagagaaa aacatcatct cctacgcagg gtgcatgtca
      421 cagctctact tcttccttgt ttttgtcatt gctgagtgtt acatgctgac agtgatggcc
      481 tacgaccgct atgttgccat ctgccaccct ttgctttaca acatcattat gtctcatcac
      541 acctgcctgc tgctggtggc tgtggtctac gccatcggac tcattggctc cacaatagaa
      601 actggcctca tgttaaaact gccctattgt gagcacctca tcagtcacta cttctgtgac
      661 atcctccctc tcatgaagct gtcctgctct agcacctatg atgttgagat gacagtcttc
      721 ttttcggctg gattcaacat catagtcacg agcttaacag ttcttgtttc ttacaccttc
      781 attctctcca gcatcctcgg catcagcacc acagagggga gatccaaagc cttcagcacc
      841 tgcagctccc accttgcagc cgtgggaatg ttctatggat caactgcatt catgtactta
      901 aaaccctcca caatcagttc cttgacccag gagaatgtgg cctctgtgtt ctacaccacg
      961 gtaatcccca tgttgaatcc cctaatctac agcctgagga acaaggaagt aaaggctgcc
     1021 gtgcagaaaa cgctgagggg taaactgttt tgatgcaaat gttattgttc cttttcaatt
     1081 tagtggtaat tgttataaat accagagtga cagcttctga atgctggcca gctgtggatg
     1141 gaaaataatc acttctccac atggctgggt gaatgggcat ttttccttct ttcctcttcc
     1201 ttccctcttc ctttcctctt ccttcctctt ccttccttcc tcttctttcc tcttccttcc
     1261 ctccctcttt tttcacttct ctttgaagcc agccaacttc aggttcaggt tttctttcac
     1321 ttgagatcca tccctctacc ccaagccctt taataaatgt ttcctatctt aattgtaa
//
LOCUS       NM_001005195             933 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily B member 12
            (OR8B12), mRNA.
ACCESSION   NM_001005195
VERSION     NM_001005195.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 933)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 933)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136863.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000306842.3/ ENSP00000307159.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065834.1.
            On Sep 22, 2004 this sequence version replaced XM_166757.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..933
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..933
                     /gene="OR8B12"
                     /gene_synonym="OR11-317"
                     /note="olfactory receptor family 8 subfamily B member 12"
                     /db_xref="GeneID:219858"
                     /db_xref="HGNC:HGNC:15307"
     CDS             1..933
                     /gene="OR8B12"
                     /gene_synonym="OR11-317"
                     /note="olfactory receptor OR11-317"
                     /codon_start=1
                     /product="olfactory receptor 8B12"
                     /protein_id="NP_001005195.1"
                     /db_xref="CCDS:CCDS31711.1"
                     /db_xref="GeneID:219858"
                     /db_xref="HGNC:HGNC:15307"
                     /translation="MAAKNSSVTEFILEGLTHQPGLRIPLFFLFLGFYTVTVVGNLGLI
                     TLIGLNSHLHTPMYFFLFNLSLIDFCFSTTITPKMLMSFVSRKNIISFTGCMTQLFFFC
                     FFVVSESFILSAMAYDRYVAICNPLLYTVTMSCQVCLLLLLGAYGMGFAGAMAHTGSIM
                     NLTFCADNLVNHFMCDILPLLELSCNSSYMNELVVFIVVAVDVGMPIVTVFISYALILS
                     SILHNSSTEGRSKAFSTCSSHIIVVSLFFGSGAFMYLKPLSILPLEQGKVSSLFYTIIV
                     PVLNPLIYSLRNKDVKVALRRTLGRKIFS"
     misc_feature    13..15
                     /gene="OR8B12"
                     /gene_synonym="OR11-317"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGG6.1); glycosylation site"
     misc_feature    73..135
                     /gene="OR8B12"
                     /gene_synonym="OR11-317"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG6.1);
                     transmembrane region"
     misc_feature    160..222
                     /gene="OR8B12"
                     /gene_synonym="OR11-317"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG6.1);
                     transmembrane region"
     misc_feature    295..357
                     /gene="OR8B12"
                     /gene_synonym="OR11-317"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG6.1);
                     transmembrane region"
     misc_feature    415..477
                     /gene="OR8B12"
                     /gene_synonym="OR11-317"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG6.1);
                     transmembrane region"
     misc_feature    490..492
                     /gene="OR8B12"
                     /gene_synonym="OR11-317"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGG6.1); glycosylation site"
     misc_feature    565..567
                     /gene="OR8B12"
                     /gene_synonym="OR11-317"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGG6.1); glycosylation site"
     misc_feature    589..648
                     /gene="OR8B12"
                     /gene_synonym="OR11-317"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG6.1);
                     transmembrane region"
     misc_feature    709..771
                     /gene="OR8B12"
                     /gene_synonym="OR11-317"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG6.1);
                     transmembrane region"
     misc_feature    811..873
                     /gene="OR8B12"
                     /gene_synonym="OR11-317"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG6.1);
                     transmembrane region"
ORIGIN
        1 atggcagcca aaaactcttc tgtgacagag tttatcctcg aaggcttaac ccaccagccg
       61 ggactgcgga tccccctctt cttcctgttt ctgggtttct acacggtcac cgtggtgggg
      121 aacctgggct tgataaccct gattgggctg aactctcacc tgcacactcc catgtacttc
      181 ttccttttta acctctcttt aatagatttc tgtttctcca ctaccatcac tcccaaaatg
      241 ctgatgagtt ttgtctcaag gaagaacatc atttccttca cagggtgtat gactcagctc
      301 ttcttcttct gcttctttgt cgtctctgag tccttcatcc tgtcagcgat ggcgtatgac
      361 cgctacgtgg ccatctgtaa cccactgttg tacacagtca ccatgtcttg ccaggtgtgt
      421 ttgctccttt tgttgggtgc ctatgggatg gggtttgctg gggccatggc ccacacagga
      481 agcataatga acctgacctt ctgtgctgac aaccttgtca atcatttcat gtgtgacatc
      541 cttcctctcc ttgagctctc ctgcaacagc tcttacatga atgagctggt ggtctttatt
      601 gtggtggctg ttgacgttgg aatgcccatt gtcactgtct ttatttctta tgccctcatc
      661 ctctccagca ttctacacaa cagttctaca gaaggcaggt ccaaagcctt tagtacttgc
      721 agttcccaca taattgtagt ttctcttttc tttggttctg gtgctttcat gtatctcaaa
      781 cccctttcca tcctgcccct cgagcaaggg aaagtgtcct ccctgttcta taccataata
      841 gtccccgtgt taaacccatt aatctatagc ttgaggaaca aggatgtcaa agttgccctg
      901 aggagaactt tgggcagaaa aatcttttct taa
//
LOCUS       NM_001005196             930 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily B member 4
            (OR8B4), mRNA.
ACCESSION   NM_001005196
VERSION     NM_001005196.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 930)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 930)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 930)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   4  (bases 1 to 930)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136865.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000356130.7/ ENSP00000348449.3
            polymorphic pseudogene   :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065831.1.
            On Sep 22, 2004 this sequence version replaced XM_210186.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jul 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be functional according to the Classifier for
            Olfactory Receptor Pseudogenes.
            CCDS Note: This olfactory receptor gene is a segregating pseudogene
            (PMID:22908908), where some individuals have an allele that encodes
            a functional olfactory receptor, while other individuals have an
            allele that is predicted to be non-functional. This CCDS is being
            retained because the Classifier for Olfactory Receptor Pseudogenes
            (CORP) predicts the reference genome allele to be functional.
FEATURES             Location/Qualifiers
     source          1..930
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..930
                     /gene="OR8B4"
                     /gene_synonym="OR11-315; OR8B4P"
                     /note="olfactory receptor family 8 subfamily B member 4"
                     /db_xref="GeneID:283162"
                     /db_xref="HGNC:HGNC:8473"
     CDS             1..930
                     /gene="OR8B4"
                     /gene_synonym="OR11-315; OR8B4P"
                     /note="olfactory receptor, family 8, subfamily B, member 4
                     pseudogene; olfactory receptor OR11-315"
                     /codon_start=1
                     /product="olfactory receptor 8B4"
                     /protein_id="NP_001005196.1"
                     /db_xref="CCDS:CCDS31710.1"
                     /db_xref="GeneID:283162"
                     /db_xref="HGNC:HGNC:8473"
                     /translation="MTLRNSSSVTEFILVGLSEQPELQLPLFLLFLGIYVFTVVGNLGL
                     ITLIGINPSLHTPMYFFLFNLSFIDLCYSCVFTPKMLNDFVSESIISYVGCMTQLFFFC
                     FFVNSECYVLVSMAYDRYVAICNPLLYMVTMSPRVCFLLMFGSYVVGFAGAMAHTGSML
                     RLTFCDSNVIDHYLCDVLPLLQLSCTSTHVSELVFFIVVGVITMLSSISIVISYALILS
                     NILCIPSAEGRSKAFSTWGSHIIAVALFFGSGTFTYLTTSFPGSMNHGRFASVFYTNVV
                     PMLNPSIYSLRNKDDKLALGKTLKRVLF"
     misc_feature    13..15
                     /gene="OR8B4"
                     /gene_synonym="OR11-315; OR8B4P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96RC9.2); glycosylation site"
     misc_feature    76..138
                     /gene="OR8B4"
                     /gene_synonym="OR11-315; OR8B4P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RC9.2);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR8B4"
                     /gene_synonym="OR11-315; OR8B4P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RC9.2);
                     transmembrane region"
     misc_feature    295..357
                     /gene="OR8B4"
                     /gene_synonym="OR11-315; OR8B4P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RC9.2);
                     transmembrane region"
     misc_feature    415..477
                     /gene="OR8B4"
                     /gene_synonym="OR11-315; OR8B4P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RC9.2);
                     transmembrane region"
     misc_feature    589..648
                     /gene="OR8B4"
                     /gene_synonym="OR11-315; OR8B4P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RC9.2);
                     transmembrane region"
     misc_feature    709..771
                     /gene="OR8B4"
                     /gene_synonym="OR11-315; OR8B4P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RC9.2);
                     transmembrane region"
     misc_feature    811..873
                     /gene="OR8B4"
                     /gene_synonym="OR11-315; OR8B4P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RC9.2);
                     transmembrane region"
ORIGIN
        1 atgactctga gaaacagctc ctcagtgact gagtttatcc ttgtgggatt atcagaacag
       61 ccagagctcc agctccctct tttccttcta ttcttaggga tctatgtgtt cactgtggtg
      121 ggcaacttgg gcttgatcac cttaattggg ataaatccta gccttcacac ccccatgtac
      181 tttttcctct tcaacttgtc ctttatagat ctctgttatt cctgtgtgtt tacccccaaa
      241 atgctgaatg actttgtttc agaaagtatc atctcttatg tgggatgtat gactcagcta
      301 tttttcttct gtttctttgt caattctgag tgctatgtgt tggtatcaat ggcctatgat
      361 cgctatgtgg ccatctgcaa ccccctgctc tacatggtca ccatgtcccc aagggtctgc
      421 tttctgctga tgtttggttc ctatgtggta gggtttgctg gggccatggc ccacactgga
      481 agcatgctgc gactgacctt ctgtgattcc aacgtcattg accattatct gtgtgacgtt
      541 ctccccctct tgcagctctc ctgcaccagc acccatgtca gtgagctggt atttttcatt
      601 gttgttggag taatcaccat gctatccagc ataagcatcg tcatctctta cgctttgata
      661 ctctccaaca tcctctgtat tccttctgca gagggcagat ccaaagcctt tagcacatgg
      721 ggctcccaca taattgctgt tgctctgttt tttgggtcag ggacattcac ctacttaaca
      781 acatcttttc ctggctctat gaaccatggc agatttgcct cagtctttta caccaatgtg
      841 gttcccatgc ttaacccttc gatctacagt ttgaggaata aggatgataa acttgccctg
      901 ggcaaaaccc tgaagagagt gctcttctaa
//
LOCUS       NM_001005197            2904 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily D member 4
            (OR8D4), mRNA.
ACCESSION   NM_001005197
VERSION     NM_001005197.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2904)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2148874
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641687.1/ ENSP00000493391.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP002407.3.
            On Jul 28, 2020 this sequence version replaced NM_001005197.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2904
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.1"
     gene            1..2904
                     /gene="OR8D4"
                     /gene_synonym="OR11-275"
                     /note="olfactory receptor family 8 subfamily D member 4"
                     /db_xref="GeneID:338662"
                     /db_xref="HGNC:HGNC:14840"
     misc_feature    32..34
                     /gene="OR8D4"
                     /gene_synonym="OR11-275"
                     /note="upstream in-frame stop codon"
     CDS             107..1051
                     /gene="OR8D4"
                     /gene_synonym="OR11-275"
                     /note="olfactory receptor OR11-275"
                     /codon_start=1
                     /product="olfactory receptor 8D4"
                     /protein_id="NP_001005197.1"
                     /db_xref="CCDS:CCDS31698.1"
                     /db_xref="GeneID:338662"
                     /db_xref="HGNC:HGNC:14840"
                     /translation="MGVKNHSTVTEFLLSGLTEQAELQLPLFCLFLGIYTVTVVGNLSM
                     ISIIRLNRQLHTPMYYFLSSLSFLDFCYSSVITPKMLSGFLCRDRSISYSGCMIQLFFF
                     CVCVISECYMLAAMACDRYVAICSPLLYRVIMSPRVCSLLVAAVFSVGFTDAVIHGGCI
                     LRLSFCGSNIIKHYFCDIVPLIKLSCSSTYIDELLIFVIGGFNMVATSLTIIISYAFIL
                     TSILRIHSKKGRCKAFSTCSSHLTAVLMFYGSLMSMYLKPASSSSLTQEKVSSVFYTTV
                     ILMLNPLIYSLRNNEVRNALMKLLRRKISLSPG"
     misc_feature    119..121
                     /gene="OR8D4"
                     /gene_synonym="OR11-275"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGM9.1); glycosylation site"
     misc_feature    182..244
                     /gene="OR8D4"
                     /gene_synonym="OR11-275"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM9.1);
                     transmembrane region"
     misc_feature    269..331
                     /gene="OR8D4"
                     /gene_synonym="OR11-275"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM9.1);
                     transmembrane region"
     misc_feature    404..466
                     /gene="OR8D4"
                     /gene_synonym="OR11-275"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM9.1);
                     transmembrane region"
     misc_feature    524..586
                     /gene="OR8D4"
                     /gene_synonym="OR11-275"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM9.1);
                     transmembrane region"
     misc_feature    698..757
                     /gene="OR8D4"
                     /gene_synonym="OR11-275"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM9.1);
                     transmembrane region"
     misc_feature    818..880
                     /gene="OR8D4"
                     /gene_synonym="OR11-275"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM9.1);
                     transmembrane region"
     misc_feature    920..982
                     /gene="OR8D4"
                     /gene_synonym="OR11-275"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM9.1);
                     transmembrane region"
ORIGIN
        1 gaagaaggta aaatcaatcc atctctactc ctgaagtgat gaggttagga gaaagaagag
       61 atactcacct acagtcttca ggaggaaaaa gatttctcag agaagaatgg gtgtaaaaaa
      121 ccattccaca gtgactgagt ttcttctttc aggattaact gaacaagcag agcttcagct
      181 gcccctcttc tgcctcttct taggaattta cacagttact gtggtgggaa acctcagcat
      241 gatctcaatt attaggctga atcgtcaact tcataccccc atgtactatt tcctgagtag
      301 tttgtctttt ttagatttct gctattcttc tgtcattacc cctaaaatgc tatcagggtt
      361 tttatgcaga gatagatcca tctcctattc tggatgcatg attcagctgt tttttttctg
      421 tgtttgtgtt atttctgaat gctacatgct ggcagccatg gcctgcgatc gctacgtggc
      481 catctgcagc ccactgctct acagggtcat catgtcccct agggtctgtt ctctgctggt
      541 ggctgctgtc ttctcagtag gtttcactga tgctgtgatc catggaggtt gtatactcag
      601 gttgtctttc tgtggatcaa acatcattaa acattatttc tgtgacattg tccctcttat
      661 taaactctcc tgctccagca cttatattga tgagcttttg atttttgtca ttggtggatt
      721 taacatggtg gccacaagcc taacaatcat tatttcatat gcttttatcc tcaccagcat
      781 cctgcgcatc cactctaaaa agggcaggtg caaagcgttt agcacctgta gctcccacct
      841 gacagctgtt cttatgtttt atgggtctct gatgtccatg tatctcaaac ctgcttctag
      901 cagttcactc acccaggaga aagtatcctc agtattttat accactgtga ttctcatgtt
      961 gaatcccttg atatatagtc tgaggaacaa tgaagtaaga aatgctctga tgaaactttt
     1021 aagaagaaaa atatctttat ctccaggata aatatgctct ttattaagat ctatttctgt
     1081 attcataatc atgattatat gtatatattt ataccttgac tatttaaaag taatttgagg
     1141 tccaggtacg gtgacttacg cctgtaatcc cagcactttg ggaggccgag ttgggtggat
     1201 cacgaggtcc ggtgttcaag accagcctgg ccaagatgat gaaaccccat cactattaaa
     1261 attacaaaaa aattagcagg gcatggtggt gggcacctgt aatcccacct acttgggagg
     1321 ctgaggcaga agaattgctt gaactcgggt ggcggaggtt gcagtgagcc gagatcacac
     1381 cattgcactc cagcctgggt gacaagagtg aaagtctgtc tcaaaaaaaa aaaaaaaaaa
     1441 aaaagtaatt tgaaatcaga tgaaattata tatatttaga ttagtaaata tatgcacaga
     1501 taattacatt aataacatgt aaaacaacat atatgaaagt gaaaagtaaa aaatatttta
     1561 aatttaaagt taataccttt gctgggattg aacaacaatt tttatcttta gtttcctgaa
     1621 tccaagccca aaaggaaatc atcatcatgg tgtactgcat agtcatatca gaagaaaacc
     1681 acacctaatt tcaaaaaaaa ttgagcagcg tgatggaaat tattacaaca attttgtaat
     1741 aactgtggga gaatttttct tgattgtttc ttataaaggg cttcttgaaa gccagtattg
     1801 tcttacagtg taatgcaatg aagaagattc aacaaaggac taagctaata tggtctcagt
     1861 atttggcagc tgttgatcca aaaataagat ttaacaatga ctagatgaag agatgatgtt
     1921 tataacctta ttaaaatgtc ttgttttttt tcagcatgac cagtatatgt gcagtatttt
     1981 gtaactttct gtttgtttct tttgagttgg tattttcttt gtaagctgta actaggtgtc
     2041 tttaatttcc tccacatgtt ttgagataaa gataatgaaa aagcttatga tttttaagaa
     2101 tgaacctata cagtgaacca agatagtatg ctgtatgggg aatgtgatgt attagctaat
     2161 tcatttgttc agcatatgct tatcatggac accatgtgcc aggcactgtt ctgagtgttg
     2221 gaatattatg gtgaatatga tagacaaggt atctctttac ttttaggggg tgaaaaagat
     2281 gatagataat acagaggtag ttcagtgaac aaacataatt atagataagt cctttggaaa
     2341 aaatgagtta tgtaattttc agtggttcaa attctactct caatagagct ctttgaagaa
     2401 aggacatttg aaatgaaacc taaatgaaga aaagggtaca gttatgcaga aaccagaaag
     2461 gcagcggcaa gtacaaagtc gaaggctgga acaaacttgg ccatattcaa gaaacggaga
     2521 aggcagtatg gcagacggtc agtgagagag ggagaaaagg aaccaaagga ggttggataa
     2581 gtaggcaaac tctagatcac ttagggagtt ttaattctat cctaagtaca atgagaagca
     2641 attggaatgt ttcaaaagca gagcgatgta atctgtttta catttgaaaa atatcttctg
     2701 gttattgatt agaaaataga tagatattta tgtgtgtgta tgtttgtggg aagggttaga
     2761 tagggaaaga tagtgctatt ggccagagtg gaagcagaga gggtactttt gatgctgtta
     2821 aacttatttt ggtaagaaac aatgtgattt tagttccagg aatagcagta gaaataaaaa
     2881 aaaatagatt caagatacat ttct
//
LOCUS       NM_001005198            1566 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily G member 5
            (OR8G5), mRNA.
ACCESSION   NM_001005198
VERSION     NM_001005198.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1566)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.240419.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000641992.2/ ENSP00000493127.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP002965.3.
            On Jul 24, 2020 this sequence version replaced NM_001005198.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1566
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..1566
                     /gene="OR8G5"
                     /gene_synonym="OR11-298; OR8G5P; OR8G6"
                     /note="olfactory receptor family 8 subfamily G member 5"
                     /db_xref="GeneID:219865"
                     /db_xref="HGNC:HGNC:19622"
     misc_feature    238..240
                     /gene="OR8G5"
                     /gene_synonym="OR11-298; OR8G5P; OR8G6"
                     /note="upstream in-frame stop codon"
     CDS             274..1209
                     /gene="OR8G5"
                     /gene_synonym="OR11-298; OR8G5P; OR8G6"
                     /note="olfactory receptor, family 8, subfamily G, member 6;
                     olfactory receptor, family 8, subfamily G, member 5
                     pseudogene; olfactory receptor OR11-298; olfactory receptor
                     8G6"
                     /codon_start=1
                     /product="olfactory receptor 8G5"
                     /protein_id="NP_001005198.2"
                     /db_xref="CCDS:CCDS66256.2"
                     /db_xref="GeneID:219865"
                     /db_xref="HGNC:HGNC:19622"
                     /translation="MAAENHSFVTKFILVGLTEKSELQLPLFLVFLGIYVVTVLGNLGM
                     ITLIGLSSHLHTPMYCFLSSLSFIDFCHSTVITPKMLVNFVTEKNIISYPECMTQLYFF
                     LVFAIAECHMLAAMAYDGYVAICSPLLYSIIISNKACFSLILVVYVIGLICASAHIGCM
                     FRVQFCKFDVINHYFCDLISILKLSCSSTYINELLILIFSGINILVPSLTILSSYIFII
                     ASILRIRYTEGRSKAFSTCSSHISAVSVFFGSAAFMYLQPSSVSSMDQGKVSSVFYTIV
                     VPMLNPLIYSLRNKDVHVALKKTLGKRTFL"
     regulatory      1532..1537
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR8G5"
                     /gene_synonym="OR11-298; OR8G5P; OR8G6"
                     /note="hexamer: AATAAA"
     polyA_site      1566
                     /gene="OR8G5"
                     /gene_synonym="OR11-298; OR8G5P; OR8G6"
                     /note="major polyA site"
ORIGIN
        1 aggccactgt aaaaggggag gatgtgtgct agagctagag aaacacaact gaaaagtgac
       61 aactggagat gctgatcagc ggtgcagatt gatttcaaaa gtgagtgaga tgtcttgtgc
      121 tttgcagtct caggactaaa gactacagaa cgctggcttg gtacctatga cttccaacag
      181 cagcattagt gccattctcc aagtcaaaga cagcaagttg caaataaaat ttggaactga
      241 ggtttcaggc aaaagaaaga aactcatcaa agaatggcag cagaaaacca ttcttttgtg
      301 actaagttta ttctggttgg gctaacagag aagtcagagc tacagctgcc cctcttcctc
      361 gtcttcctgg gaatctatgt agtcacagtg ctggggaacc tgggcatgat cacactgatt
      421 gggctcagtt ctcacctgca cacacctatg tactgtttcc tcagcagtct gtccttcatt
      481 gacttctgcc attccactgt cattacccct aagatgctgg tgaactttgt gacagagaag
      541 aacatcatct cctaccctga atgcatgact cagctctact tcttcctcgt ttttgctatt
      601 gcagagtgtc acatgttggc tgcaatggca tatgacggct acgtggccat ctgtagcccc
      661 ttgctgtaca gcatcatcat atccaataag gcttgctttt ctctgatttt agtggtgtat
      721 gtaataggcc tgatttgtgc gtcagctcat ataggctgta tgtttagggt tcaattctgc
      781 aaatttgatg tgatcaacca ttatttctgt gatcttattt ctatcttgaa gctctcctgt
      841 tctagtactt acattaatga gttactgatt ttaatcttta gtggaattaa catccttgtc
      901 cccagcctga ccatcctcag ctcttacatc ttcatcattg ccagcatcct ccgcattcgc
      961 tacactgagg gcaggtccaa agccttcagc acttgcagct cccacatctc ggctgtttct
     1021 gttttctttg ggtctgcagc attcatgtac ctgcagccat catctgtcag ctccatggac
     1081 caggggaaag tgtcctctgt gttttatact attgttgtgc ccatgctgaa ccccctgatc
     1141 tacagcctga ggaataaaga tgtccacgtt gccctgaaga aaacgctagg gaaaagaaca
     1201 ttcttatgaa cagaagtaca atgaaaaaga ttgcattaga tctaagtttt tggctatgat
     1261 attgtatgaa atgatgtctt tcactttagt gcatctgtca acattctttc taatttgggg
     1321 ggattttact gacgttatgt cttatgcaca tggtctattt catgccattt ccctctcatt
     1381 ttttctctca taaggattac gaagacatga tattttctta gaagaaataa taagattgac
     1441 atagtgaaat agtggcataa cctgataatg ccagttacat tcccttcccc cttttctttc
     1501 atgtaattga ttaaaacata ctcctcaaca taataaaaac actatcttct ggtgataaaa
     1561 tactat
//
LOCUS       NM_001005199            2927 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily H member 1
            (OR8H1), mRNA.
ACCESSION   NM_001005199
VERSION     NM_001005199.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2927)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641600.1/ ENSP00000493316.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022882.5.
            On Aug 5, 2020 this sequence version replaced NM_001005199.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2927
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..2927
                     /gene="OR8H1"
                     /gene_synonym="OR11-180"
                     /note="olfactory receptor family 8 subfamily H member 1"
                     /db_xref="GeneID:219469"
                     /db_xref="HGNC:HGNC:14824"
     misc_feature    261..263
                     /gene="OR8H1"
                     /gene_synonym="OR11-180"
                     /note="upstream in-frame stop codon"
     CDS             327..1262
                     /gene="OR8H1"
                     /gene_synonym="OR11-180"
                     /note="olfactory receptor OR11-180"
                     /codon_start=1
                     /product="olfactory receptor 8H1"
                     /protein_id="NP_001005199.1"
                     /db_xref="CCDS:CCDS31526.1"
                     /db_xref="GeneID:219469"
                     /db_xref="HGNC:HGNC:14824"
                     /translation="MGRRNNTNVPDFILTGLSDSEEVQMALFILFLLIYLITMLGNVGM
                     ILIIRLDLQLHTPMYFFLTHLSFIDLSYSTVITPKTLANLLTSNYISFMGCFAQMFFFV
                     FLGAAECFLLSSMAYDRYVAICSPLRYPVIMSKRLCCALVTGPYVISFINSFVNVVWMS
                     RLHFCDSNVVRHFFCDTSPILALSCMDTYDIEIMIHILAGSTLMVSLITISASYVSILS
                     TILKINSTSGKQKALSTCASHLLGVTIFYGTMIFTYLKPRKSYSLGRDQVASVFYTIVI
                     PMLNPLIYSLRNKEVKNALIRVMQRRQDSR"
     misc_feature    339..341
                     /gene="OR8H1"
                     /gene_synonym="OR11-180"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGG4.1); glycosylation site"
     misc_feature    402..464
                     /gene="OR8H1"
                     /gene_synonym="OR11-180"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG4.1);
                     transmembrane region"
     misc_feature    489..551
                     /gene="OR8H1"
                     /gene_synonym="OR11-180"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG4.1);
                     transmembrane region"
     misc_feature    621..683
                     /gene="OR8H1"
                     /gene_synonym="OR11-180"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG4.1);
                     transmembrane region"
     misc_feature    741..803
                     /gene="OR8H1"
                     /gene_synonym="OR11-180"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG4.1);
                     transmembrane region"
     misc_feature    915..974
                     /gene="OR8H1"
                     /gene_synonym="OR11-180"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG4.1);
                     transmembrane region"
     misc_feature    1035..1097
                     /gene="OR8H1"
                     /gene_synonym="OR11-180"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG4.1);
                     transmembrane region"
     misc_feature    1137..1199
                     /gene="OR8H1"
                     /gene_synonym="OR11-180"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG4.1);
                     transmembrane region"
     regulatory      2529..2534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR8H1"
                     /gene_synonym="OR11-180"
                     /note="hexamer: AATAAA"
     polyA_site      2545
                     /gene="OR8H1"
                     /gene_synonym="OR11-180"
                     /note="major polyA site"
ORIGIN
        1 aataatctac ctatagtcac agagattccc agtgttcttt tgacacacaa cttcctggta
       61 atctttccat ttgaccagga cctaaacgaa atttctaggt tggttttttg acacagaata
      121 aaacaaaatg aatgcacaaa aatgtaaaaa caacttatct caaggaaaac aaatattata
      181 tcggagaaaa ttttatctcc ttaaatggtt ttcatatttt atttataaga aaaattgagg
      241 ttgacaaatt tctagacaga taatatgaga agaaagcttt ttcaccaact ttggctcaga
      301 cacgcagttt aaagcaattg aacatcatgg gtagaagaaa taacacaaat gtgcctgact
      361 tcatccttac gggactgtca gattctgaag aggtccagat ggccctcttt atactatttc
      421 tcctgatata cctaattact atgctgggca atgtggggat gatattgata atccgcctgg
      481 acctccagct tcacactccc atgtattttt tccttactca cttgtcattt attgacctca
      541 gttactcaac tgtcatcaca cctaaaacct tagcgaactt actgacttcc aactatattt
      601 ccttcatggg ctgctttgcc cagatgttct tttttgtctt cttgggagct gctgaatgtt
      661 ttcttctctc atcaatggcc tatgatcgct acgtagctat ctgcagtcct ctacgttacc
      721 cagttattat gtccaaaagg ctgtgttgcg ctcttgtcac tgggccctat gtgattagct
      781 ttatcaactc ctttgtcaat gtggtttgga tgagcagact gcatttctgc gactcaaatg
      841 tagttcgtca ctttttctgc gacacgtctc caattttagc tctgtcctgc atggacacat
      901 acgacattga aatcatgata cacattttag ctggttccac cctgatggtg tcccttatca
      961 caatatctgc atcctatgtg tccattctct ctaccatcct gaaaattaat tccacttcag
     1021 gaaagcagaa agctttgtct acttgtgcct ctcatctctt gggagtcacc atcttttatg
     1081 gaactatgat ttttacttat ttaaaaccaa gaaagtctta ttctttggga agggatcaag
     1141 tggcttctgt tttttatact attgtgattc ccatgctgaa tccactcatt tatagtctta
     1201 gaaacaaaga agttaaaaat gctctcatta gagtcatgca gagaagacag gactccaggt
     1261 aattaaaata gcaggaatgc tgaacattta aactcatctt ttctttcttt tctatttggt
     1321 atgtccttgg tctccctata aaaacaattg aatccttcat gtttgcattt ctgttgtgct
     1381 aacctttgct tgactaaacg tgatcttgaa catttcaagg tgtatgtttt cagaaatcca
     1441 gattgtaatt agaaatcata atatgtgttg gccgggcacg gtggctcatg cctataatcc
     1501 cagcactctg ggaggccgag gtgggtggat cacatgaggt cagaagttca agaccagcct
     1561 agccatgatg aaatgtggtc tgtagtaaaa atacaaaaaa ttagctgggt gtggtggtgc
     1621 atgcctgtaa tcccagctac ttgcggggct gaggtaggag aatcgcttca atctgggagg
     1681 cagaggttgc agtgagccga gatcgtgcca ttggactcca gcctgggcaa caagagcgaa
     1741 actccgtctc aaaacaaaac agaacaaaac aaaacaaaac aaaaaataat aatatgtgtg
     1801 tcatatttac agtctaaata tatgttttta gaagcaactg atgtggaaaa taagaaaata
     1861 tggttgtcct ttaaaattat attacacaaa ttcctatgca tacttcagtt gtaggtaaat
     1921 ttattatgga aaacaacgat ttggggcaca gtgataacag tctcagaagt tatttcattt
     1981 attatatggg gaagaattat aacagagtct ttaggagtac tgttttgaaa taaagttttc
     2041 caagagttag attctaaata tgctacattt tcagctatac aacccagaat atgttaccta
     2101 aaatttaaaa ctctctttcc ttaagtgcac aagataaata ataactccaa atttgatcag
     2161 agagtagctg taaagtattt aaggtgacaa taatcaatgc tgcctattct cattagaaga
     2221 cttgcattcc agcacaatgc cttttgtgaa ggatattcac ttgtgtttta caaattactt
     2281 ttggttaatt taatttacag gcacacaagc aactaaaaag gaaaaaaaaa gataatatca
     2341 gtagttcaca atttggactt taggaaataa aatattttga taaaattaag ttataataaa
     2401 atagcatata ttgttagaga aaatttgaaa aatattataa aatattaagg aaaatagaaa
     2461 ccctcaaaat attgagtttt ggctgttttg cttatggcat agccattctt ttgtttcttt
     2521 atttttctaa taaacttgtt ttcagtttaa gaaaaacaaa tatcgagttt tgtgcatgtt
     2581 cttcgagatc aatagttttg aatatgtgca tgtgtataac atatgtaaac taaatatcac
     2641 tttctgtgta ctgattttca gctttctgta tccatttaca agtttaacat tggataatct
     2701 ctttgtcatt gacaacgcta atataaattt tttcttggta cataggcaaa atcaagactc
     2761 atttcacaat gttttggact tgaaatatta actcaccaca ttaaaaatct acatgcagtg
     2821 atatctcttt tgtgtgttaa acatttgaaa acttgacttc tgtaaagagt caaactgttt
     2881 ctttgttaaa attctgtgtg tttttaaaaa tcattgcctt gctcctg
//
LOCUS       NM_001005201             939 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily H member 3
            (OR8H3), mRNA.
ACCESSION   NM_001005201
VERSION     NM_001005201.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313472.3/ ENSP00000323928.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC068339.6.
            On Sep 22, 2004 this sequence version replaced XM_372391.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..939
                     /gene="OR8H3"
                     /gene_synonym="OR11-172"
                     /note="olfactory receptor family 8 subfamily H member 3"
                     /db_xref="GeneID:390152"
                     /db_xref="HGNC:HGNC:15309"
     CDS             1..939
                     /gene="OR8H3"
                     /gene_synonym="OR11-172"
                     /note="olfactory receptor OR11-172"
                     /codon_start=1
                     /product="olfactory receptor 8H3"
                     /protein_id="NP_001005201.1"
                     /db_xref="CCDS:CCDS31519.1"
                     /db_xref="GeneID:390152"
                     /db_xref="HGNC:HGNC:15309"
                     /translation="MMGRRNDTNVADFILTGLSDSEEVQMALFMLFLLIYLITMLGNVG
                     MLLIIRLDLQLHTPMYFFLTHLSFIDLSYSTVVTPKTLANLLTSNYISFTGCFAQMFCF
                     VFLGTAECYLLSSMAYDRYAAICSPLHYTVIMPKRLCLALITGPYVIGFMDSFVNVVSM
                     SRLHFCDSNIIHHFFCDTSPILALSCTDTDNTEMLIFIIAGSTLMVSLITISASYVSIL
                     STILKINSTSGKQKAFSTCVSHLLGVTIFYGTMIFTYLKPRKSYSLGRDQVAPVFYTIV
                     IPMLNPLIYSLRNREVKNALIRVMQRRQDSR"
     misc_feature    16..18
                     /gene="OR8H3"
                     /gene_synonym="OR11-172"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N146.1); glycosylation site"
     misc_feature    79..141
                     /gene="OR8H3"
                     /gene_synonym="OR11-172"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N146.1);
                     transmembrane region"
     misc_feature    166..228
                     /gene="OR8H3"
                     /gene_synonym="OR11-172"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N146.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR8H3"
                     /gene_synonym="OR11-172"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N146.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR8H3"
                     /gene_synonym="OR11-172"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N146.1);
                     transmembrane region"
     misc_feature    592..651
                     /gene="OR8H3"
                     /gene_synonym="OR11-172"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N146.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR8H3"
                     /gene_synonym="OR11-172"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N146.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR8H3"
                     /gene_synonym="OR11-172"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N146.1);
                     transmembrane region"
ORIGIN
        1 atgatgggta gaaggaatga cacaaatgtg gctgacttca tccttacggg actgtcagac
       61 tctgaagagg tccagatggc tctgtttatg ctatttctcc tcatatacct aattactatg
      121 ctggggaatg tggggatgct attgataatc cgcctggacc tccagcttca cactcccatg
      181 tattttttcc ttactcacct gtcatttatt gacctcagtt actcaactgt cgtcacacct
      241 aaaaccttag cgaacttact gacttccaac tatatttcct tcacgggctg ctttgcccag
      301 atgttctgtt ttgtcttctt gggtactgct gaatgttatc ttctctcctc aatggcctat
      361 gatcgctatg cagcgatctg cagtcctcta cactacacag ttattatgcc caaaaggctc
      421 tgcctcgctc tcatcactgg gccttatgtg attggcttta tggactcctt tgtcaatgtg
      481 gtttccatga gcagattgca tttctgtgac tcaaacataa ttcatcactt tttctgtgac
      541 acttccccaa ttttagctct gtcctgcact gacacagaca acactgaaat gctgatattc
      601 attatcgctg gttccaccct gatggtgtcc cttatcacaa tatctgcatc ctatgtgtcc
      661 attctctcta ccatcctgaa aattaattcc acttcaggaa agcagaaagc tttctctact
      721 tgcgtctctc atctcttggg agtcaccatc ttctatggaa ctatgatttt tacttactta
      781 aagccaagaa agtcttattc cttgggaaga gatcaagtgg ctcctgtgtt ttatactatt
      841 gtgattccca tgctgaatcc actcatttat agtcttagaa acagagaagt gaaaaatgct
      901 ctcattagag tcatgcagag aagacaggac tccaggtag
//
LOCUS       NM_001005202            2438 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily K member 3
            (gene/pseudogene) (OR8K3), mRNA.
ACCESSION   NM_001005202
VERSION     NM_001005202.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2438)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2438)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2438)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641662.1/ ENSP00000493271.1
            polymorphic pseudogene :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022882.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 13, 2021 this sequence version replaced NM_001005202.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be non-functional as an olfactory receptor
            according to the Classifier for Olfactory Receptor Pseudogenes.
FEATURES             Location/Qualifiers
     source          1..2438
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..2438
                     /gene="OR8K3"
                     /gene_synonym="OR11-181"
                     /note="olfactory receptor family 8 subfamily K member 3
                     (gene/pseudogene)"
                     /db_xref="GeneID:219473"
                     /db_xref="HGNC:HGNC:15313"
     misc_feature    97..99
                     /gene="OR8K3"
                     /gene_synonym="OR11-181"
                     /note="upstream in-frame stop codon"
     CDS             106..1044
                     /gene="OR8K3"
                     /gene_synonym="OR11-181"
                     /note="olfactory receptor OR11-181; olfactory receptor,
                     family 8, subfamily K, member 3"
                     /codon_start=1
                     /product="olfactory receptor 8K3"
                     /protein_id="NP_001005202.1"
                     /db_xref="GeneID:219473"
                     /db_xref="HGNC:HGNC:15313"
                     /translation="MEQHNLTTVNEFILTGITDIAELQAPLFALFLMIYVISVMGNLGM
                     IVLTKLDSRLQTPMYFFLRHLAFMDLGYSTTVGPKMLVNFVVDKNIISYYFCATQLAFF
                     LVFIGSELFILSAMSYDLYVAICNPLLYTVIMSRRVCQVLVAIPYLYCTFISLLVTIKI
                     FTLSFCGYNVISHFYCDSLPLLPLLCSNTHEIELIILIFAAIDLISSLLIVLLSYLLIL
                     VAILRMNSAGRQKAFSTCGAHLTVVIVFYGTLLFMYVQPKSSHSFDTDKVASIFYTLVI
                     PMLNPLIYSLRNKDVKYALRRTWNNLCNIFV"
     misc_feature    118..120
                     /gene="OR8K3"
                     /gene_synonym="OR11-181"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH51.1); glycosylation site"
     misc_feature    181..243
                     /gene="OR8K3"
                     /gene_synonym="OR11-181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH51.1);
                     transmembrane region"
     misc_feature    268..330
                     /gene="OR8K3"
                     /gene_synonym="OR11-181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH51.1);
                     transmembrane region"
     misc_feature    403..465
                     /gene="OR8K3"
                     /gene_synonym="OR11-181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH51.1);
                     transmembrane region"
     misc_feature    523..585
                     /gene="OR8K3"
                     /gene_synonym="OR11-181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH51.1);
                     transmembrane region"
     misc_feature    697..756
                     /gene="OR8K3"
                     /gene_synonym="OR11-181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH51.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR8K3"
                     /gene_synonym="OR11-181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH51.1);
                     transmembrane region"
     misc_feature    916..978
                     /gene="OR8K3"
                     /gene_synonym="OR11-181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH51.1);
                     transmembrane region"
ORIGIN
        1 gtcaagacag aggcttcctt acagaactcc aaagatggtg aaaggaacct catttatatt
       61 tccttaccta acaagaaaac agaataggtt ttctgatgaa cctggatgga acaacacaat
      121 ctaacaacgg tgaatgaatt cattcttacg ggaatcacag atatcgctga gctgcaggca
      181 ccattatttg cattgttcct catgatctat gtgatctcag tgatgggcaa tttgggcatg
      241 attgtcctca ccaagttgga ctccaggttg caaaccccta tgtacttttt tctcagacat
      301 ctggctttca tggatcttgg ttattcaaca actgtgggac ccaaaatgtt agtaaatttt
      361 gttgtggata agaatataat ttcttattat ttttgtgcaa cacagctagc tttctttctt
      421 gtgttcattg gtagtgaact ttttattctc tcagccatgt cctacgacct ctatgtggcc
      481 atctgtaacc ctctgctata cacagtaatc atgtcacgaa gggtatgtca ggtgctggta
      541 gcaatccctt acctctattg cacattcatt tctcttctag tcaccataaa gatttttact
      601 ttatccttct gtggctacaa cgtcattagt catttctact gtgacagtct ccctttgtta
      661 cctttgcttt gttcaaatac acatgaaatt gaattgataa ttctgatctt tgcagctatt
      721 gatttgattt catctcttct gatagttctt ttatcttacc tgctcatcct tgtagccatt
      781 ctcaggatga attctgctgg cagacaaaag gctttttcta cctgtggagc ccacctgaca
      841 gtggtcatag tgttctatgg gactttgctt ttcatgtacg tgcagcccaa gtccagtcat
      901 tcctttgaca ctgataaagt ggcttccata ttttacaccc tggttatccc catgttgaat
      961 cccttgatct atagtttacg aaacaaagat gtaaaatatg ccctacgaag gacatggaat
     1021 aacttatgta atatttttgt ttaaattttg tacaatatga ttcctataaa ttaggttatg
     1081 ggcatgaatt tttgctctgc atacttccag aagacataac aagcataact gattcaacat
     1141 atatttacat atgtctcata catgataggc tcttctaatt gctatacata gattaataaa
     1201 caaaatagta gaaatctttg ccttccttga tggatagatg aattgtattc acaataagtc
     1261 cattttatat aacagtagaa tgtgcacgat ggatatagac aaagaaaaaa gggagacaag
     1321 gaaagctagt atgctgggtg gcagtaggaa acagtggtca ttacagaagg gagttacgag
     1381 gattccagtg ttttttatct gctactggaa taaaatttac agtgtgtgtg cttctgtatg
     1441 tttctgtttg tgtgtttttg tgtatataag cattttcctt ctgttttagc cttcatactt
     1501 tttgcttgta tattctgaca ttgcatttaa tactggttgt ttagatgata tgtgatgatt
     1561 ttaagtctta cagatgtgct cgaataatta ctattccgaa tattaggatc ctactatttc
     1621 cttatcaatg tttttatttc cacatagaag tctgttaacc gaacatactt tgtagctcaa
     1681 taatcggtaa attctgatta gcacctgatt ttgtttcagt tagcccattc tgtttacatg
     1741 agtagatata tcaattatgc ttaagtttag aagacatcca tagaaattct caggtttatt
     1801 ctttctctct agttgttctt gcttaataac tgcctttttc acagattttc ccgttattta
     1861 tctaaaaaaa agtaataaac tgtggttaaa atttgtgttc cagttgtttt tacatctttg
     1921 aggaggggga ccattctatg atgaattaac tttgtagtct ctcactgagt tgacaatcca
     1981 taatttttat caatatgcac tatatcgaat gcactatatt ttcatttact tcactgtttg
     2041 attgcatcag ttgatttttc tacttgtaca aagcaaataa aagtaataaa atgcactaca
     2101 ccatactgta tctatctgct ggctattaca gatgtccttt gacagttaca gaccttcacc
     2161 atgcaagtga ggtctgatct gtatgcaatg atatcgttat cttgcctttt aaacatggtt
     2221 gctttcctta actccatatg ttttcttatg tattttgatt tcctttattc tttttaataa
     2281 tcctaagaat ttattgaaag tatcagagtc tacaatattt tcttggttca ccatcataaa
     2341 ataaaatccc atgtgcagcc aaagaaacac taatgaatat atctcattgg aataaattaa
     2401 acattgcata gcacattgtc atgtgaggat aaatatta
//
LOCUS       NM_001005204             930 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily U member 1
            (OR8U1), mRNA.
ACCESSION   NM_001005204
VERSION     NM_001005204.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 930)
  AUTHORS   Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N,
            Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago
            M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam
            DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman
            J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL and Venter JC.
  TITLE     The diploid genome sequence of an individual human
  JOURNAL   PLoS Biol 5 (10), e254 (2007)
   PUBMED   17803354
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302270.1/ ENSP00000304188.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AP002512.4.
            On Sep 22, 2004 this sequence version replaced XM_166805.5.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..930
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..930
                     /gene="OR8U1"
                     /note="olfactory receptor family 8 subfamily U member 1"
                     /db_xref="GeneID:219417"
                     /db_xref="HGNC:HGNC:19611"
     CDS             1..930
                     /gene="OR8U1"
                     /codon_start=1
                     /product="olfactory receptor 8U1"
                     /protein_id="NP_001005204.1"
                     /db_xref="CCDS:CCDS41647.1"
                     /db_xref="GeneID:219417"
                     /db_xref="HGNC:HGNC:19611"
                     /translation="MAHINCTQATEFILVGLTDHQELKMPLFVLFLSIYLFTVVGNLGL
                     ILLIRADTSLNTPMYFFLSNLAFVDFCYSSVITPKMLGNFLYKQNVISFDACATQLGCF
                     LTFMISESLLLASMAYDRYVAICNPLLYMVVMTPGICIQLVAVPYSYSFLMALFHTILT
                     FRLSYCHSNIVNHFYCDDMPLLRLTCSDTRFKQLWIFACAGIMFISSLLIVFVSYMFII
                     SAILRMHSAEGRQKAFSTCGSHMLAVTIFYGTLIFMYLQPSSSHALDTDKMASVFYTVI
                     IPMLNPLIYSLQNKEVKEALKKIIINKN"
     misc_feature    13..15
                     /gene="OR8U1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH10.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR8U1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH10.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR8U1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH10.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR8U1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH10.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR8U1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH10.1);
                     transmembrane region"
     misc_feature    592..651
                     /gene="OR8U1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH10.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR8U1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH10.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR8U1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH10.1);
                     transmembrane region"
ORIGIN
        1 atggctcaca tcaattgcac ccaggcgaca gagtttattc ttgtgggcct cacagaccat
       61 caggagttga agatgcccct ctttgtgcta ttcttatcca tctacctctt cacagtggta
      121 ggcaacttgg gtttgatcct actcattaga gcggatacaa gtctcaacac accaatgtac
      181 ttctttctta gcaacctagc ttttgtggat ttctgttact cttctgtcat tacacccaaa
      241 atgcttggga atttcttgta caaacaaaat gttatatcct ttgatgcatg tgctactcaa
      301 ctgggctgct ttctcacctt catgatatca gaatccttgc tactggcttc catggcctat
      361 gaccgatatg tggccatttg taaccctcta ttgtatatgg ttgtaatgac tccaggaatc
      421 tgcattcaac ttgtagcagt tccttatagc tatagcttcc taatggcact atttcacacc
      481 atcctcacct tccgcctctc ctattgccac tccaacattg tcaaccattt ctattgtgat
      541 gacatgcctc tcctcaggct aacttgctca gacactcgct tcaaacagct ctggatcttt
      601 gcctgtgctg gtatcatgtt catttcctcc cttctgattg tctttgtctc ctacatgttc
      661 atcatttctg ccatcctgag gatgcattca gctgagggaa gacagaaggc tttctcgacg
      721 tgtggctctc acatgctggc agtcaccata ttctatggga ccctcatttt tatgtactta
      781 cagcctagct ctagccatgc cctggacaca gacaagatgg cctctgtctt ctacacagtg
      841 atcattccca tgttgaatcc cttaatctat agcctccaga ataaggaggt gaaagaagct
      901 ctgaagaaaa tcattatcaa taaaaactag
//
LOCUS       NM_001005205            1320 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily J member 1
            (OR8J1), mRNA.
ACCESSION   NM_001005205
VERSION     NM_001005205.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1320)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 1320)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000533152.3/ ENSP00000477259.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022882.5 and AP002512.4.
            On Jul 28, 2020 this sequence version replaced NM_001005205.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1320
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..1320
                     /gene="OR8J1"
                     /gene_synonym="OR11-183"
                     /note="olfactory receptor family 8 subfamily J member 1"
                     /db_xref="GeneID:219477"
                     /db_xref="HGNC:HGNC:14855"
     misc_feature    14..16
                     /gene="OR8J1"
                     /gene_synonym="OR11-183"
                     /note="upstream in-frame stop codon"
     CDS             56..1006
                     /gene="OR8J1"
                     /gene_synonym="OR11-183"
                     /note="olfactory receptor OR11-183"
                     /codon_start=1
                     /product="olfactory receptor 8J1"
                     /protein_id="NP_001005205.2"
                     /db_xref="CCDS:CCDS31529.1"
                     /db_xref="GeneID:219477"
                     /db_xref="HGNC:HGNC:14855"
                     /translation="MAPENFTRVTEFILTGVSSCPELQIPLFLVFLVLYGLTMAGNLGI
                     ITLTSVDSRLQTPMYFFLQHLALINLGNSTVIAPKMLINFLVKKKTTSFYECATQLGGF
                     LFFIVSEVIMLALMAYDRYVAICNPLLYMVVVSRRLCLLLVSLTYLYGFSTAIVVSSYV
                     FSVSYCSSNIINHFYCDNVPLLALSCSDTYLPETVVFISAATNVVGSLIIVLVSYFNIV
                     LSILKICSSEGRKKAFSTCASHMMAVTIFYGTLLFMYVQPRSNHSLDTDDKMASVFYTL
                     VIPMLNPLIYSLRNKDVKTALQRFMTNLCYSFKTM"
     misc_feature    68..70
                     /gene="OR8J1"
                     /gene_synonym="OR11-183"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGP2.2); glycosylation site"
     misc_feature    131..193
                     /gene="OR8J1"
                     /gene_synonym="OR11-183"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP2.2);
                     transmembrane region"
     misc_feature    218..280
                     /gene="OR8J1"
                     /gene_synonym="OR11-183"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP2.2);
                     transmembrane region"
     misc_feature    353..415
                     /gene="OR8J1"
                     /gene_synonym="OR11-183"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP2.2);
                     transmembrane region"
     misc_feature    473..535
                     /gene="OR8J1"
                     /gene_synonym="OR11-183"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP2.2);
                     transmembrane region"
     misc_feature    647..706
                     /gene="OR8J1"
                     /gene_synonym="OR11-183"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP2.2);
                     transmembrane region"
     misc_feature    767..829
                     /gene="OR8J1"
                     /gene_synonym="OR11-183"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP2.2);
                     transmembrane region"
     misc_feature    872..934
                     /gene="OR8J1"
                     /gene_synonym="OR11-183"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP2.2);
                     transmembrane region"
ORIGIN
        1 gactctaaga acctgaagca gattctcctc tagagatgaa tttccaaact ctgacatggc
       61 tcctgaaaat ttcaccagag tcactgagtt tattcttaca ggtgtctcta gctgtccaga
      121 gctccagatt cccctcttcc tggtctttct ggtgctctat gggctgacca tggcagggaa
      181 cctgggcatc atcaccctca ccagtgttga ctctcgactt caaaccccca tgtacttttt
      241 cctgcaacat ctggctctca ttaatcttgg taactctact gtcattgccc ctaaaatgct
      301 gattaacttt ttagtaaaga agaaaactac ctcattctat gaatgtgcca cccaactggg
      361 agggttcttg ttctttattg tatcggaggt aatcatgctg gctttgatgg cctatgaccg
      421 ctatgtggct atttgtaacc ctctgctgta catggtggtg gtgtctcggc ggctctgcct
      481 cctgctggtc tccctcacat acctctatgg cttttctaca gctattgtgg tttcatctta
      541 tgtattctct gtgtcttatt gctcttctaa tataatcaat catttttact gtgataatgt
      601 tcctctgtta gcattatctt gctctgatac ttacttacca gaaacagttg tctttatatc
      661 tgcagcaaca aatgtggttg gttccttgat tatagttcta gtatcttatt tcaatattgt
      721 tttgtctatt ttaaaaatat gttcatcaga aggaaggaaa aaagcctttt ctacctgtgc
      781 ttcacatatg atggcagtca caatttttta tgggacattg ctattcatgt atgtgcagcc
      841 ccgaagtaac cattcactgg atactgatga taagatggct tctgtgtttt acacgttggt
      901 aattcctatg ctgaatccct tgatctacag cctgaggaat aaggatgtga agactgctct
      961 acagagattc atgacaaatc tgtgctattc ctttaaaaca atgtaatttt aaacagtaca
     1021 ggtaaatgag gagagagtta atataagctg ccattatgta aaagaaaatg taggaaaaag
     1081 aaaaggtagg tagccgagtt acaggttcgt aagcaatcat aagaattaca acaagataca
     1141 atttagggag ctttgaatta aaaaataaac tgaaaccctt tgagttgtga ggttaagtta
     1201 gaaaaaaaaa atgttattta ccaattctgc ctgggattaa gcaggtagac agtttgaaat
     1261 aaaaatggtt tccagcagtt agaaaaaaaa attaaaaaaa gttaaataag tttgaatgag
//
LOCUS       NM_001005209            2213 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens transmembrane protein 198 (TMEM198), transcript variant
            2, mRNA.
ACCESSION   NM_001005209
VERSION     NM_001005209.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2213)
  AUTHORS   Liang J, Fu Y, Cruciat CM, Jia S, Wang Y, Tong Z, Tao Q, Ingelfinger
            D, Boutros M, Meng A, Niehrs C and Wu W.
  TITLE     Transmembrane protein 198 promotes LRP6 phosphorylation and Wnt
            signaling activation
  JOURNAL   Mol Cell Biol 31 (13), 2577-2590 (2011)
   PUBMED   21536646
  REMARK    GeneRIF: these results identified TMEM198 as a membrane scaffold
            protein that promotes LRP6 phosphorylation and Wnt signaling
            activation.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC080573.1, SRR1660807.92195.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000373883.4/ ENSP00000362990.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009955.4.
            On Jun 2, 2019 this sequence version replaced NM_001005209.2.
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same protein.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2213
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..2213
                     /gene="TMEM198"
                     /gene_synonym="TMEM198A"
                     /note="transmembrane protein 198"
                     /db_xref="GeneID:130612"
                     /db_xref="HGNC:HGNC:33704"
     misc_feature    366..368
                     /gene="TMEM198"
                     /gene_synonym="TMEM198A"
                     /note="upstream in-frame stop codon"
     CDS             390..1472
                     /gene="TMEM198"
                     /gene_synonym="TMEM198A"
                     /codon_start=1
                     /product="transmembrane protein 198"
                     /protein_id="NP_001005209.1"
                     /db_xref="CCDS:CCDS33385.1"
                     /db_xref="GeneID:130612"
                     /db_xref="HGNC:HGNC:33704"
                     /translation="MPGTVATLRFQLLPPEPDDAFWGAPCEQPLERRYQALPALVCIMC
                     CLFGVVYCFFGYRCFKAVLFLTGLLFGSVVIFLLCYRERVLETQLSAGASAGIALGIGL
                     LCGLVAMLVRSVGLFLVGLLLGLLLAAAALLGSAPYYQPGSVWGPLGLLLGGGLLCALL
                     TLRWPRPLTTLATAVTGAALIATAADYFAELLLLGRYVVERLRAAPVPPLCWRSWALLA
                     LWPLLSLMGVLVQWRVTAEGDSHTEVVISRQRRRVQLMRIRQQEDRKEKRRKKRPPRAP
                     LRGPRAPPRPGPPDPAYRRRPVPIKRFNGDVLSPSYIQSFRDRQTGSSLSSFMASPTDA
                     DYEYGSRGPLTACSGPPVRV"
     misc_feature    495..557
                     /gene="TMEM198"
                     /gene_synonym="TMEM198A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q66K66.1);
                     transmembrane region"
     misc_feature    564..626
                     /gene="TMEM198"
                     /gene_synonym="TMEM198A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q66K66.1);
                     transmembrane region"
     misc_feature    666..728
                     /gene="TMEM198"
                     /gene_synonym="TMEM198A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q66K66.1);
                     transmembrane region"
     misc_feature    735..797
                     /gene="TMEM198"
                     /gene_synonym="TMEM198A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q66K66.1);
                     transmembrane region"
     misc_feature    822..884
                     /gene="TMEM198"
                     /gene_synonym="TMEM198A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q66K66.1);
                     transmembrane region"
     misc_feature    918..980
                     /gene="TMEM198"
                     /gene_synonym="TMEM198A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q66K66.1);
                     transmembrane region"
     misc_feature    1041..1103
                     /gene="TMEM198"
                     /gene_synonym="TMEM198A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q66K66.1);
                     transmembrane region"
     misc_feature    1167..1301
                     /gene="TMEM198"
                     /gene_synonym="TMEM198A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q66K66.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1359..1469
                     /gene="TMEM198"
                     /gene_synonym="TMEM198A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q66K66.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2178..2183
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM198"
                     /gene_synonym="TMEM198A"
                     /note="hexamer: TATAAA"
     polyA_site      2213
                     /gene="TMEM198"
                     /gene_synonym="TMEM198A"
                     /note="major polyA site"
ORIGIN
        1 gtcaggagca gaggccggag ctgtccatca gcaccaaagg ccgcgggcgg gctcagggca
       61 tggggccgcg gttctggggc ggcccgagcc ccggctcctg cgccttcccc ttcctcaggc
      121 ccagcccgag ttcccggacg ccgcgggact ggagtgccag ccggtgttgg acgtggagcg
      181 gcgccgccac cgcgccgaca ccattctctc cggcccagca gcccccttcc tcgcacgacg
      241 gactttccct ggaccccagt cagttggagc ctctggcgcc ccgcaacccc ggcccctcgg
      301 gcctctgcac agcctctttc actcagaagc tcaggtcgcc tccagcccag gttaacttgg
      361 gagggtgact cccttctatt cccagcacta tgccggggac tgtggcaaca ctgcggttcc
      421 agctgctgcc ccctgagcca gatgatgcct tctggggtgc accttgtgaa cagcccctgg
      481 agcgcaggta ccaggcactg ccggccctcg tctgcatcat gtgctgtttg tttggagtcg
      541 tctactgctt cttcggttac cgctgcttca aggcagtgct ctttctcact gggttgctgt
      601 ttggctcggt ggtcatcttc ctcctctgct accgagagcg ggtgctagag acacagctga
      661 gtgctggggc gagcgcgggc atcgctctgg gcatcgggct gctctgcggg ctggtggcca
      721 tgctagtgcg cagcgtgggc ctcttcctgg tggggctgct gctcggcctg ctgctcgcag
      781 ctgctgccct gctgggctcc gcaccctact accagccagg ctccgtgtgg ggtccactgg
      841 ggctgttgct ggggggcggc ctgctctgtg ccctgctcac tctgcgctgg ccccgcccac
      901 tcaccaccct ggccaccgcc gtgactggtg ctgcgctgat cgccactgcc gctgactact
      961 tcgccgagct gctactgctg gggcgctacg tggtggagcg actccgggct gctcctgtgc
     1021 ccccactctg ctggcgaagc tgggccctgc tggcactctg gcccctgctc agcctgatgg
     1081 gcgttctggt gcagtggagg gtgacagctg agggggactc ccacacggaa gtggtcatca
     1141 gccggcagcg ccgacgcgtg caactgatgc ggattcggca gcaggaagat cgcaaggaga
     1201 aaaggcggaa aaagagacct cctcgggctc ccctcagagg tccccgggct cctcccaggc
     1261 ctgggccacc agaccctgct tatcggcgca ggccagtgcc catcaaacgc ttcaatggag
     1321 acgtcctctc cccgagctat atccagagct tccgagaccg gcagaccggg agctccctga
     1381 gctccttcat ggcctcaccc acagatgcgg actatgagta tgggtcccgg ggacctctga
     1441 cagcctgctc aggcccccca gtgcgggtat agccatatct gtctgtctag actctgcagt
     1501 caccagctct gccagctcga ggaggcctgc taggctgcca ctcagcctcc tggctttggc
     1561 tgtccctctc cccagcctgg agagggctgg cctggtcact agaagggagg attgtctcag
     1621 gcgagtcttg gcctgagagg aaagccccct cccaagctcc caagaggctc ctgaggaact
     1681 cggggtgtga accccattgg ggtgtgctca gggttgtgag tgtgttgccc gtgtgtctgt
     1741 gtgtatgtgt gtgggggtgg gcaggcttgg aggggacgct gggacccttg ccttagattt
     1801 ctgactggta gggtttctcc aggctcagcc ccacctcttc actccctgcc aaggtcccat
     1861 gggccacctc ctgcatgtct ccgcggaggg gctaccttcc ttcccatcgc cctgcctcgc
     1921 agccagactc atctaagggt tcttgtcctt gtctatgggg caaactgtag catccctcac
     1981 cctggtcccc tggcctctgt aaagccacca gcctgagggc agtggcagga gatgggggtg
     2041 ggggggtgct gctctgggct gggttgggaa gggagttggg gaggggttta aatgcacggt
     2101 gcatgtctgg tgtctgtcat gccaacctag acacctcatg cttctgtctc ccccacccca
     2161 ctctgtttta catcttttat aaatgtgcca aactgtgtgg cctctgccag gaa
//
LOCUS       NM_001005210            5204 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.
ACCESSION   NM_001005210
VERSION     NM_001005210.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5204)
  AUTHORS   Hu S, Han R, Chen L, Qin W, Xu X, Shi J, Zhu X, Zhang M, Zeng C,
            Tang Z, Bao H and Liu Z.
  TITLE     Upregulated LRRC55 promotes BK channel activation and aggravates
            cell injury in podocytes
  JOURNAL   J Exp Med 218 (3) (2021)
   PUBMED   33346797
  REMARK    GeneRIF: Upregulated LRRC55 promotes BK channel activation and
            aggravates cell injury in podocytes.
REFERENCE   2  (bases 1 to 5204)
  AUTHORS   Zhou Y, Li M, Xue Y, Li Z, Wen W, Liu X, Ma Y, Zhang L, Shen Z and
            Cao X.
  TITLE     Interferon-inducible cytoplasmic lncLrrc55-AS promotes antiviral
            innate responses by strengthening IRF3 phosphorylation
  JOURNAL   Cell Res 29 (8), 641-654 (2019)
   PUBMED   31213650
  REMARK    GeneRIF: Interferon-inducible cytoplasmic lncLrrc55-AS promotes
            antiviral innate responses by strengthening IRF3 phosphorylation.
REFERENCE   3  (bases 1 to 5204)
  AUTHORS   Li Q, Fan F, Kwak HR and Yan J.
  TITLE     Molecular basis for differential modulation of BK channel
            voltage-dependent gating by auxiliary gamma subunits
  JOURNAL   J Gen Physiol 145 (6), 543-554 (2015)
   PUBMED   26009545
  REMARK    GeneRIF: Suggest that BK channel modulation by auxiliary gamma
            subunits depends on intra- and/or juxta-membrane mechanisms.
REFERENCE   4  (bases 1 to 5204)
  AUTHORS   Yan J and Aldrich RW.
  TITLE     BK potassium channel modulation by leucine-rich repeat-containing
            proteins
  JOURNAL   Proc Natl Acad Sci U S A 109 (20), 7917-7922 (2012)
   PUBMED   22547800
REFERENCE   5  (bases 1 to 5204)
  AUTHORS   Zhang Z and Henzel WJ.
  TITLE     Signal peptide prediction based on analysis of experimentally
            verified cleavage sites
  JOURNAL   Protein Sci 13 (10), 2819-2824 (2004)
   PUBMED   15340161
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.271102.1,
            SRR1803615.66440.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000497933.3/ ENSP00000419542.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK127591.1, AP001786.4 and AK023401.1.
            On May 17, 2019 this sequence version replaced NM_001005210.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
FEATURES             Location/Qualifiers
     source          1..5204
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..5204
                     /gene="LRRC55"
                     /note="leucine rich repeat containing 55"
                     /db_xref="GeneID:219527"
                     /db_xref="HGNC:HGNC:32324"
                     /db_xref="MIM:615213"
     misc_feature    17..19
                     /gene="LRRC55"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MDTVLMGSLQHCCCLLPK"
     misc_feature    32..34
                     /gene="LRRC55"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MGSLQHCCCLLPK"
     CDS             71..967
                     /gene="LRRC55"
                     /note="leucine-rich repeat-containing protein 55; BK
                     channel auxilliary gamma snit LRRC55; BK channel auxiliary
                     gamma subunit LRRC55"
                     /codon_start=1
                     /product="leucine-rich repeat-containing protein 55
                     precursor"
                     /protein_id="NP_001005210.2"
                     /db_xref="CCDS:CCDS31539.2"
                     /db_xref="GeneID:219527"
                     /db_xref="HGNC:HGNC:32324"
                     /db_xref="MIM:615213"
                     /translation="MGDTWAQLPWPGPPHPAMLLISLLLAAGLMHSDAGTSCPVLCTCR
                     NQVVDCSSQRLFSVPPDLPMDTRNLSLAHNRITAVPPGYLTCYMELQVLDLHNNSLMEL
                     PRGLFLHAKRLAHLDLSYNNFSHVPADMFQEAHGLVHIDLSHNPWLRRVHPQAFQGLMQ
                     LRDLDLSYGGLAFLSLEALEGLPGLVTLQIGGNPWVCGCTMEPLLKWLRNRIQRCTADS
                     QLAECRGPPEVEGAPLFSLTEESFKACHLTLTLDDYLFIAFVGFVVSIASVATNFLLGI
                     TANCCHRWSKASEEEEI"
     sig_peptide     71..172
                     /gene="LRRC55"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    266..331
                     /gene="LRRC55"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSA7.3);
                     Region: LRR 1"
     misc_feature    338..403
                     /gene="LRRC55"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSA7.3);
                     Region: LRR 2"
     misc_feature    410..475
                     /gene="LRRC55"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSA7.3);
                     Region: LRR 3"
     misc_feature    482..550
                     /gene="LRRC55"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSA7.3);
                     Region: LRR 4"
     misc_feature    557..628
                     /gene="LRRC55"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSA7.3);
                     Region: LRR 5"
     misc_feature    845..907
                     /gene="LRRC55"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSA7.3);
                     transmembrane region"
     regulatory      5180..5185
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC55"
                     /note="hexamer: AATAAA"
     polyA_site      5204
                     /gene="LRRC55"
                     /note="major polyA site"
ORIGIN
        1 acagactctc gattccatgg acacagtcct catgggctcc ctccagcact gctgttgcct
       61 gctgcctaag atgggtgaca cttgggccca gcttccctgg cccgggccac cccacccagc
      121 aatgctgctg atctccctcc tcttggcagc cgggttgatg cactcggatg ccggcaccag
      181 ctgccccgtc ctttgcacat gccgtaacca ggtggtggat tgtagcagcc agcggctatt
      241 ctccgtgccc ccagacctgc caatggacac ccgaaacctc agcctggccc acaaccgcat
      301 cacagcagtg ccgcctggct acctcacatg ctacatggag ctccaggtgc tggatttgca
      361 caacaactcc ttaatggagc tgccccgggg cctcttcctc catgccaagc gcttggcaca
      421 cttggacctg agctacaaca atttcagcca tgtgccagcc gacatgttcc aggaggccca
      481 tgggctagtc cacatcgacc tgagccacaa cccctggctg cggagggtgc atccccaggc
      541 ctttcagggc ctcatgcagc tccgagacct ggacctcagt tatgggggcc tggccttcct
      601 cagcctggag gctcttgagg gcctaccggg gctggtgacc ctgcagatcg gtggcaatcc
      661 ctgggtgtgt ggctgcacca tggaacccct gctgaagtgg ctgcgaaacc ggatccagcg
      721 ctgtacagca gattctcagc tggctgagtg ccggggccct cctgaagtcg agggcgcccc
      781 gctcttctca ctcactgagg agagcttcaa ggcctgccac ctgaccctga ccctggatga
      841 ttacctattc attgcgttcg tgggcttcgt ggtctccatt gcttctgtgg ccaccaactt
      901 cctcctgggc atcactgcca actgctgcca ccgctggagc aaggccagtg aagaggaaga
      961 gatctgacat gcctgcctct catccctcca tgctgctgac cgccacagct gctggccacc
     1021 agacgccctc cctgactgct cactctggtt ccatggtgac ctggctgcct cagtcatggt
     1081 tcaagcaagg tggggacact cattttgtat gagcatctgc tttgggccag gcggcacgct
     1141 aggaattggg aacatcagat gaactgactc agtccctgcc ctcaaggcac ttccctctgg
     1201 tcaaggagag agatccaaaa actattccct ttaagactat atgtcaggac tctgagcacg
     1261 tcattatgga ggcccagagg aggagccatc atctgtatct agcaatgtcc atgagaatta
     1321 taagattaga gtgatttgtg aactgggtca tcaggaaata tctactttgt caggtaggca
     1381 aagaagggtg tctgcacatg gcagaggcca gaatatgcat agtgtgctgt gttgagaaga
     1441 gtgaacagtt cctggtcact tacttgtata gagggggtgt ggcacagaac tcaaacctac
     1501 ccctcacctc ctgacaccaa aactgtcagc tctcagcaat gccagccact gcctacaggg
     1561 agtaagaaca cctctatgac agcccctggc ctccttccac cagcagctac caggtgagac
     1621 cacctcccag tgactgcccc catatgacca aatgtcacca gttggtgagg tcccaggcag
     1681 caggctgagg atggacactt tcaatgccct tgctcctgcc tctcactcaa gttttgcttc
     1741 agaagagaga ggcaggaggc ccagcaactg gggcagcaag agtcctggca ccttgggatc
     1801 ctaatcatgt gactgttctt gccacagtgc tcatgccaca gggtctcacc aggaaagtgc
     1861 actgtgggcc acagacccac agcctggcag cacccagagc taaaagggga caaaggcagc
     1921 acagttatga ccatatgagg ctttgcattt tcttctaagc aacttaccca cgttaagcat
     1981 gagggtgaga gagctattaa atactaagcc cttgccagtg tcaggtactt tgaaaagctc
     2041 tctgcacaaa ccattccctt tgacacacac acacacaaat cttttgaggt gaacgctgtt
     2101 gttcccattt tacggatgag gcaactaagg ctcagagagg ttaaagtcac atgccactat
     2161 gagcaagata aagtctgtgc tctttctact gccccatcca agttggggaa catcaccatt
     2221 ccctctagag ttatataaat tcaaattcaa ctagagctga caaagttcct cataaggtcc
     2281 aggcactcct ctgggcactt ttatatctat tgactcactt ctttcaattc tcacagcaac
     2341 actgcctggt ggtttttatt atccccattt gacagatgaa ttaatcgtag agagttgagt
     2401 gacttaccca aggttgtctg gataagccct agaaggaagg cggtaggcag ctccattcag
     2461 ggaaactgca tctaatcagt cagtcaaaaa tcaagtaact ttacgagcaa agcacaatta
     2521 tcatcatcgt ggtcttcttc atcagtttcg tcagcagcat cattatcttc cctctatttg
     2581 ttcagcaccg gatagttcat gagtattttt gcatcattct ccttgacttt tcacatccct
     2641 gtgcaggagg taaatcaaac atcagtaatc ctgttttaca gatggggaaa aaagtctcaa
     2701 ggttggatat gacttgctat gtggcaaggt tggggctcaa ccctaacaca gttctctttc
     2761 cagtgctttc tcaagtgctt ggggaagaga atgcctcaga aggctgggta gtggggccct
     2821 ggaattcagc atccatgaat gtgctagtgg ataagctaaa tagaaggcag ccaaacccat
     2881 ctgctgtaca gattgaacta tgctcacggt agggcaaatt gcaggctctg aaacagagac
     2941 tacacaggta acacctgaat aggagactcc tgctttacaa tgtgtagata aaacatcagc
     3001 aatggtggcc atggtggcag tcatgtgaaa agtaagatct ttgggaatca agaaaggaag
     3061 ctgtgttaac cactcctgct caagccctgc tgcgtgtgtt gcaagagata ctaagagagc
     3121 aagaaagcta taggtgagaa cctctgcagt ttaggagaag aacatcaagg cacagtccaa
     3181 catgctgata agtctggcca ggaggagaat taaaacaggg gctttccaca cctcccttgc
     3241 cccaagctcc agcggtattc tatcagccca tcctcctgga aagcctgaaa ggaatgaagg
     3301 aggctaataa gtcatcttcc aggaaggcat ccctcactcg tgcttccctg agctagtcaa
     3361 ccaaaagagt cttcagaaac tttgctagac ctgaagtact tgaacctgtg tcccctgaat
     3421 ctttcttaca acatctggga caaatccctg gccctgtgac atccgaagca gaactgtgcc
     3481 ctgctctctc cttctgtgat gaccaaggat ggtgaactca agttgttctc tacaagccag
     3541 gccagcaacc taaatacttg gagaggaact tttagaaact ataatcctga caaaatagaa
     3601 aagtttccca taggggcata ccataatact ataataacct cccaggaact attgtttgcc
     3661 aaaatgtagt taatatattt taagatatat gcttttttgc ataggactag aaccagaaaa
     3721 gacaccaaat gcccccttga catcaatgtc ctttctagtg ggacaatttg gtctccatta
     3781 atgccaagcc tttctgaaca ggatacatgg cttttaaagg acagatgttt ctcctgctgc
     3841 tagaagttcc tcagtttact agagcacaat gaggaaagta ttcaacctcc ctactgccaa
     3901 ggaattccct gcttctcccc caccgccatc atcttgtcca agctatcaga agcaaccttc
     3961 tagagataat ctaacaatcc tgattagaat tgctcccata tccctggtga ccacaggctt
     4021 cattcaaatt gtccaaactg gttaacatgt atgtgatggg gtatctctgc atctgtatgt
     4081 ctgtctgcga ggttccttgt atattggctg tccgctgact tgggacagat ctctctagaa
     4141 cttgggttca gttctctgac atagtccact cagccatagg ctgagtggct aaatatgcat
     4201 aaataagcat gcctaaatag gcatatatag gttggtgcaa aagtaattgc ggtttttgcc
     4261 attaaaaatg atagcaaaaa tcccaattac ttttgcgtca atctaatatt acattgcttg
     4321 atagattaag atggaatccc accaggttta gggtaggact ggatgctcaa aaaataaaga
     4381 aggagaaaaa tctgtggcag aggcatccta atgagaacct gacttctcct tgcttccctc
     4441 tgctctctcc tgcgcctcag agacttgtcc ccattgcaga agcttcctcc atgctaggcc
     4501 agaggatatc aaagtttagt ttggtcaaga tttgggccaa gaaaattcct ttttagaaga
     4561 gccctcatat ctgaatcaca tcactttggg ccagttatct ctggtcaccc tcagacaaac
     4621 cctcgtctct ttttctccct tcctagagga attcccaggg aactttgcag aaataggtct
     4681 ccagagttgc tacagaggtt catggctcct ttcgaggagg gacatgtatg aaatttgaac
     4741 agatcaagac aggtgtttgt cttcaaccat gggggaagac ctccagcttc cattttcccc
     4801 tatacgtgtc tgtgctgaca tcctttccag cagtagaaga ctaaaaagat atatcttaac
     4861 ccattcctca aaaggacatc ttcctaaagc cagagaaaat tgtctgcgct tccccacccc
     4921 aggaagaggc aaaagggaag tgagggcgtc acaaggtctt ttgtaaatca ctattgtgtt
     4981 tgtcacagca ctgggcggag agctggatcc acagagctct cagtttttct aagcactgtc
     5041 ctgtaatgtg ctaatgtctg ggggtgggag ggctggggag gggtggggtt agagggaaga
     5101 tgccaacctt tgtatggaga tgattttata accatgcact tttgtaactg tgcagaattt
     5161 ttcataaatg tacattaata ataaagagtg tatagtttaa caaa
//
LOCUS       NM_001005211            3184 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 9 subfamily I member 1
            (OR9I1), mRNA.
ACCESSION   NM_001005211
VERSION     NM_001005211.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3184)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 3184)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000641439.1/ ENSP00000493370.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP004247.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 21, 2020 this sequence version replaced NM_001005211.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..3184
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..3184
                     /gene="OR9I1"
                     /gene_synonym="OR11-228"
                     /note="olfactory receptor family 9 subfamily I member 1"
                     /db_xref="GeneID:219954"
                     /db_xref="HGNC:HGNC:14718"
     misc_feature    299..301
                     /gene="OR9I1"
                     /gene_synonym="OR11-228"
                     /note="upstream in-frame stop codon"
     misc_feature    323..325
                     /gene="OR9I1"
                     /gene_synonym="OR11-228"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MLTTIFQDTDFSKVRNINFVELLHPPQGTQSLEENEEEYGEHPKLKPTVHIVS"
     CDS             482..1426
                     /gene="OR9I1"
                     /gene_synonym="OR11-228"
                     /note="olfactory receptor OR11-228"
                     /codon_start=1
                     /product="olfactory receptor 9I1"
                     /protein_id="NP_001005211.1"
                     /db_xref="CCDS:CCDS31542.1"
                     /db_xref="GeneID:219954"
                     /db_xref="HGNC:HGNC:14718"
                     /translation="MAKNNLTRVTEFILMGFMDHPKLEIPLFLVFLSFYLVTLLGNVGM
                     IMLIQVDVKLYTPMYFFLSHLSLLDACYTSVITPQILATLATGKTVISYGHCAAQFFLF
                     TICAGTECFLLAVMAYDRYAAIRNPLLYTVAMNPRLCWSLVVGAYVCGVSGAILRTTCT
                     FTLSFCKDNQINFFFCDLPPLLKLACSDTANIEIVIIFFGNFVILANASVILISYLLII
                     KTILKVKSSGGRAKTFSTCASHITAVALFFGALIFMYLQSGSGKSLEEDKVVSVFYTVV
                     IPMLNPLIYSLRNKDVKDAFRKVARRLQVSLSM"
     misc_feature    494..496
                     /gene="OR9I1"
                     /gene_synonym="OR11-228"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGQ6.1); glycosylation site"
     misc_feature    557..619
                     /gene="OR9I1"
                     /gene_synonym="OR11-228"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ6.1);
                     transmembrane region"
     misc_feature    644..706
                     /gene="OR9I1"
                     /gene_synonym="OR11-228"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ6.1);
                     transmembrane region"
     misc_feature    779..841
                     /gene="OR9I1"
                     /gene_synonym="OR11-228"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ6.1);
                     transmembrane region"
     misc_feature    899..961
                     /gene="OR9I1"
                     /gene_synonym="OR11-228"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ6.1);
                     transmembrane region"
     misc_feature    1073..1132
                     /gene="OR9I1"
                     /gene_synonym="OR11-228"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ6.1);
                     transmembrane region"
     misc_feature    1193..1255
                     /gene="OR9I1"
                     /gene_synonym="OR11-228"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ6.1);
                     transmembrane region"
     misc_feature    1295..1357
                     /gene="OR9I1"
                     /gene_synonym="OR11-228"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ6.1);
                     transmembrane region"
ORIGIN
        1 ctatttgagc aatcttagct gctttctaca aaatgcttaa acaaccttag cttagcttga
       61 ctacaaggcc aagataaatc caactgaatt attccaccag gtaattaaga cttaattatt
      121 accttggctc tgaagtaagg tccacacaaa ctagagaagg tgtaactggg cagagaatct
      181 tgcctttgtc atcagaagtt gtcatctgat aggaccatga ccagactggg atttcagctc
      241 ttatgtgaaa tatacaattg aaaggaaata aaagccttta aagtgcttag catctacctg
      301 acttggagca agagctcagc aaatgttaac aacaatattt caagacactg atttcagtaa
      361 ggtgagaaac attaactttg ttgagctcct tcaccctccc caagggactc aatctttgga
      421 ggaaaatgaa gaagagtatg gagaacatcc caagttaaaa ccaacagtcc acattgtctc
      481 catggccaag aataatctca ccagagtaac cgaattcatt ctcatgggct ttatggacca
      541 ccccaaattg gagattcccc tctttctggt gtttctgagt ttctacctag tcacccttct
      601 tgggaatgtg gggatgatta tgttaatcca agtagatgtc aaactctaca ccccaatgta
      661 cttcttcctg agccacctct ccctgctgga tgcctgttac acctcagtca tcacccctca
      721 gatcctagcc acattggcca caggcaaaac ggtcatctcc tacggccact gtgctgccca
      781 gttcttttta ttcaccatct gtgcaggcac agagtgcttt ctgctggcag tgatggccta
      841 tgatcgctat gctgccattc gcaacccact gctctatacc gtggccatga atcccaggct
      901 ctgctggagc ctggtggtag gagcctatgt ctgtggggtg tcaggagcca tcctgcgtac
      961 cacttgcacc ttcaccctct ccttctgtaa ggacaatcaa ataaacttct tcttctgtga
     1021 cctcccaccc ctgctgaagc ttgcctgcag tgacacagca aacatcgaga ttgtcatcat
     1081 cttctttggc aattttgtga ttttggccaa tgcctccgtc atcctgattt cctatctgct
     1141 catcatcaag accattttga aagtgaagtc ttcaggtggc agggccaaga ctttctccac
     1201 atgtgcctct cacatcactg ctgtggccct tttctttgga gcccttatct tcatgtatct
     1261 gcaaagtggc tcaggcaaat ctctggagga agacaaagtc gtgtctgtct tctatacagt
     1321 ggtcatcccc atgctgaacc ctctgatcta cagcttaaga aacaaagatg taaaagacgc
     1381 cttcagaaag gtcgctagga gactccaggt gtccctgagc atgtagatct aagtaagagg
     1441 aattcttgtt ttagtccact ttcttcccat atgaatatat cctaataggc accattacta
     1501 tatgcaacct atacccacaa acagagaaga cagaagatag gtaccaccag gcacacagga
     1561 aaaactacaa ttgtggtgaa attagtttcc agcaattcca tgttctttct tcttatcccc
     1621 ttcttccact ttcaatccat tccttagcac tgggcagtct cttaatattc tctaatgtca
     1681 caacttatag aatctcagat cccaggagtc ttgagtttat ttcattccaa cccaatactc
     1741 tctcaactca tgcctgggct tgccatcctt tccctcttgt ttttgctccc atcaatccca
     1801 cttttatctc tgtgtcaaag attatatctg gggacctctg cgaattgcac aaattggcct
     1861 ttttttcttt taatatgaag gactgatcac ctcactaagc agggagtatt gtataaggaa
     1921 aaactcagtc tccaactggc caagggaagg aagtttgaga aatgaacttc tctcttcaga
     1981 agagacttgt gtcacccgct tagagtgtct tccttcttgc tcaggccaga acaatagaac
     2041 ttgaaatttt ccttatcact tggtacctta ctggttttgt tgttcctttt tttaatgtta
     2101 ctttggtatc ttcaagatga aatgaaccat cctacctttg ggaatgtctc ctcaagctct
     2161 ctcatttctg aaggccatgg tacattgctt ctcctcctca ccctattgcg tgtctcagga
     2221 acagttctct cctaccaagc aacccatttc caggaagagc aaatcagaga gcaccaacag
     2281 ataaatagaa agacaactga accccatatt accttctcta atgaagatct ggtgagaggg
     2341 gaagtaatca tgactcctgt accagactgt aaaacccttg agaacagaat gttttcttca
     2401 ctattgagtc caaagccttt tgaaagaatt tgtatggtac atgcttgttc ctatttgagc
     2461 cttctggcaa ctctatggca aatgggaaaa acatagttta atgtaaaatt cccattttgc
     2521 aattaaggaa gtacttcctc atgagtcaaa gagtactcgg agtatacagc agtagacaag
     2581 ggatggagtc aggcttgaat cagaatcctg attccaccac tgatttatta tgagactttg
     2641 ggtaaatgat ttaattttgc agacctaaaa caagtataac aattcccaat tcaagaggat
     2701 attgtaaaaa ttaaataaaa tgatgaataa gaaatagcca agcactaatc agatgttcaa
     2761 tatagattgc tctcttatct tctcttccct ttccctcact ttctgatgtc aaccctggac
     2821 ccttgctaga atttaatggc cactgacaaa agcaaaatag atcaccaacc aatgatgata
     2881 aaagtcaatg aaagcaatga actgaggaag atgtataact caatcctttg caccaaggaa
     2941 taaaacaaac gagtacttac ctggaaaggt ggagtgcatg tatctatatc ccacatagtc
     3001 aagaataata aaaggatgta tttgtaagtg aatatgttat tttatgaata tatgaactcc
     3061 tctacccagc tttgatttta tgaaaagttg atcctcattg cctctccata tggaaacaac
     3121 aattttatta aaataattca ccaaatatct tgtagttgac tgattcagaa ataagcacct
     3181 gacc
//
LOCUS       NM_001005212            2488 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 9 subfamily Q member 1
            (OR9Q1), mRNA.
ACCESSION   NM_001005212
VERSION     NM_001005212.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2488)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA2149398, SAMN03465407
            [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335397.3/ ENSP00000334934.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003484.2 and AP004247.2.
            On May 17, 2019 this sequence version replaced NM_001005212.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2488
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..2488
                     /gene="OR9Q1"
                     /note="olfactory receptor family 9 subfamily Q member 1"
                     /db_xref="GeneID:219956"
                     /db_xref="HGNC:HGNC:14724"
     misc_feature    230..232
                     /gene="OR9Q1"
                     /note="upstream in-frame stop codon"
     CDS             317..1249
                     /gene="OR9Q1"
                     /codon_start=1
                     /product="olfactory receptor 9Q1"
                     /protein_id="NP_001005212.1"
                     /db_xref="CCDS:CCDS31543.1"
                     /db_xref="GeneID:219956"
                     /db_xref="HGNC:HGNC:14724"
                     /translation="MAEMNLTLVTEFLLIAFTEYPEWALPLFLLFLFMYLITVLGNLEM
                     IILILMDHQLHAPMYFLLSHLAFMDVCYSSITVPQMLAVLLEHGAALSYTRCAAQFFLF
                     TFFGSIDCYLLALMAYDRYLAVCQPLLYVTILTQQARLSLVAGAYVAGLISALVRTVSA
                     FTLSFCGTSEIDFIFCDLPPLLKLTCGESYTQEVLIIMFAIFVIPASMVVILVSYLFII
                     VAIMGIPAGSQAKTFSTCTSHLTAVSLFFGTLIFMYLRGNSDQSSEKNRVVSVLYTEVI
                     PMLNPLIYSLRNKEVKEALRKILNRAKLS"
     misc_feature    329..331
                     /gene="OR9Q1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGQ5.1); glycosylation site"
     misc_feature    392..454
                     /gene="OR9Q1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ5.1);
                     transmembrane region"
     misc_feature    479..541
                     /gene="OR9Q1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ5.1);
                     transmembrane region"
     misc_feature    614..676
                     /gene="OR9Q1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ5.1);
                     transmembrane region"
     misc_feature    734..796
                     /gene="OR9Q1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ5.1);
                     transmembrane region"
     misc_feature    908..967
                     /gene="OR9Q1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ5.1);
                     transmembrane region"
     misc_feature    1025..1087
                     /gene="OR9Q1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ5.1);
                     transmembrane region"
     misc_feature    1127..1189
                     /gene="OR9Q1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ5.1);
                     transmembrane region"
ORIGIN
        1 ggtggccctt gtgcagggaa ttgaagaagt gcaggaggat gccacacaga gatggtagag
       61 ggagcgaaag gagcaaaggc cctaactttc ccttaatgat gtctccttcc atctttagtc
      121 cagcccagca atgtacatgt tatccttccc gtttgaagat gaagacactg aggctcagaa
      181 agatcaaacg cctttcccaa actcacagct acggcctgac ggagccatgt aagcaccaag
      241 aagaccctta ccagacactg catgctggtg ccttgatctt ggacttccca gcctcctgaa
      301 ctggaccact ggtgtcatgg cagagatgaa cctcaccttg gtgaccgagt tcctccttat
      361 tgcattcact gaatatcctg aatgggcact ccctctcttc ctcttgtttt tatttatgta
      421 tctcatcacc gtattgggga acttagagat gattattctg atcctcatgg atcaccagct
      481 ccacgctcca atgtatttcc ttctgagtca cctcgctttc atggacgtct gctactcatc
      541 tatcactgtc ccccagatgc tggcagtgct gctggagcat ggggcagctt tatcttacac
      601 acgctgtgct gctcagttct ttctgttcac cttctttggt tccatcgact gctacctctt
      661 ggccctcatg gcctatgacc gctacttggc tgtgtgccag cccctgcttt atgtcaccat
      721 cctgacacag caggcccgct tgagtcttgt ggctggggct tacgttgctg gtctcatcag
      781 tgccttggtg cggacagtct cagccttcac tctctccttc tgtggaacca gtgagattga
      841 ctttattttc tgtgacctcc ctcctctgtt aaagttgacc tgtggggaga gctacactca
      901 agaagtgctg attattatgt ttgccatttt tgtcatccct gcttccatgg tggtgatctt
      961 ggtgtcctac ctgtttatca tcgtggccat catggggatc cctgctggaa gccaggccaa
     1021 gaccttctcc acctgcacct cccacctcac tgctgtgtca ctcttctttg gtaccctcat
     1081 cttcatgtac ttgagaggta actcagatca gtcttcggag aagaatcggg tagtgtctgt
     1141 gctttacaca gaggtcatcc ccatgttgaa tcccctcatc tacagcctga ggaacaagga
     1201 agtgaaggag gccctgagaa aaattctcaa tagagccaag ttgtcctaac catctccaaa
     1261 cttggaaaat cccgagaacc acctactctg tagtgtcaga attctggacg ctcattattt
     1321 atagcatgct caatgtttaa atgaatatat tatggtacta ggtataaaaa agaaccagaa
     1381 cttttagctc cagggagagg aaggaagaca aggaaaagtc aacctgaaaa gagattggag
     1441 tgggagtttt gattcccagg acaagtgaca aaaggatttg aaattaaagc ctgtgcaatc
     1501 caaatatggc acacttcacc tgtctgtgat tataagagta attttttttg caaaattttt
     1561 aatgaaagat tttcatcata tagaaatgtt aaaaataata tgtaggaagt ttcctatact
     1621 cagtactgag attgtgtaat tgctaatatt tgctgtcttt acttggttac atagatgtaa
     1681 tctatccgtg agtttattca tcaatcaatt cactcatcaa accacctttt tttgattcat
     1741 ttcaaggtga gttccggaca tcagcattag taccctttac ttctatgcac ttcagaatta
     1801 tatcatcaat taggattcaa tatttagatt acatttattt ttaatgatca aactatggtc
     1861 gtttgatgat ccaattagca aagctgaccc tactcaaggt atgccttaat attctggtag
     1921 tagttctcaa gaaggcctca cacaaacttt taacaatgcc tacaataaca tgtctgtcaa
     1981 ttgctatcac ctctggatat atgccctgtt ctttttcttc ctacctatta cagttctctc
     2041 tcgtcatatg gcatgactaa aaatccactt agcaaagtta taccattccc actgcccata
     2101 atggcgtctt cagtgtctgt atcatagaca ttgactctct gtgttctgaa agctttttcc
     2161 ttcagggagg cagaacattg ctgcattcca catggcgata ggcaggaggg tggtcctcgc
     2221 ctatcctggg tccctgcact ctgcagcagc tcagcctgca tccaaagcct cacaaaatct
     2281 gtctgttctt aatctttact tctctaatca caggggactt gtctcaatca aacccaaggc
     2341 actggaagag agcaggcccc atctattaat tttttttcat ttaaacaaat ttttatacct
     2401 ggaactcaaa cttcttttcc tgtctcctgg attactaaaa aaaaaaaaaa aaaaaaaaat
     2461 ccaaaaccaa aacaacaaca acaaaaaa
//
LOCUS       NM_001005213            3611 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 9 subfamily G member 1
            (OR9G1), mRNA.
ACCESSION   NM_001005213
VERSION     NM_001005213.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3611)
  AUTHORS   Yang Q, Kathiresan S, Lin JP, Tofler GH and O'Donnell CJ.
  TITLE     Genome-wide association and linkage analyses of hemostatic factors
            and hematological phenotypes in the Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S12 (2007)
   PUBMED   17903294
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3611)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642097.1/ ENSP00000493255.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP004245.2.
            On Jul 27, 2020 this sequence version replaced NM_001005213.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..3611
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..3611
                     /gene="OR9G1"
                     /gene_synonym="OR9G5"
                     /note="olfactory receptor family 9 subfamily G member 1"
                     /db_xref="GeneID:390174"
                     /db_xref="HGNC:HGNC:15319"
     misc_feature    79..81
                     /gene="OR9G1"
                     /gene_synonym="OR9G5"
                     /note="upstream in-frame stop codon"
     CDS             115..1032
                     /gene="OR9G1"
                     /gene_synonym="OR9G5"
                     /note="olfactory receptor, family 9, subfamily G, member 5;
                     olfactory receptor OR11-210; olfactory receptor 9G5;
                     olfactory receptor OR11-114"
                     /codon_start=1
                     /product="olfactory receptor 9G1"
                     /protein_id="NP_001005213.1"
                     /db_xref="CCDS:CCDS31536.1"
                     /db_xref="GeneID:390174"
                     /db_xref="HGNC:HGNC:15319"
                     /translation="MQRSNHTVTEFILLGFTTDPGMQLGLFVVFLGVYSLTVVGNSTLI
                     VLICNDSCLHTPMYFFTGNLSFLDLWYSSVYTPKILVTCISEDKSISFAGCLCQFFFSA
                     GLAYSECYLLAAVAYDRYVAISKPLLYAQAMSIKLCALLVAVSYCGGFINSSIITKKTF
                     SFNFCRENIIDDFFCDLLPLVELACGEKGGYKIMMYFLLASNVICPAVLILASYLFIIT
                     SVLRISSSKGYLKAFSTCSSHLTSVTLYYGSILYIYALPRSSYSFDMDKIVSTFYTVVF
                     PMLNLMIYSLRNKDVKEALKKLLP"
     misc_feature    127..129
                     /gene="OR9G1"
                     /gene_synonym="OR9G5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH87.1); glycosylation site"
     misc_feature    187..249
                     /gene="OR9G1"
                     /gene_synonym="OR9G5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH87.1);
                     transmembrane region"
     misc_feature    274..336
                     /gene="OR9G1"
                     /gene_synonym="OR9G5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH87.1);
                     transmembrane region"
     misc_feature    409..471
                     /gene="OR9G1"
                     /gene_synonym="OR9G5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH87.1);
                     transmembrane region"
     misc_feature    529..591
                     /gene="OR9G1"
                     /gene_synonym="OR9G5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH87.1);
                     transmembrane region"
     misc_feature    703..762
                     /gene="OR9G1"
                     /gene_synonym="OR9G5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH87.1);
                     transmembrane region"
     misc_feature    823..885
                     /gene="OR9G1"
                     /gene_synonym="OR9G5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH87.1);
                     transmembrane region"
     misc_feature    925..987
                     /gene="OR9G1"
                     /gene_synonym="OR9G5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH87.1);
                     transmembrane region"
ORIGIN
        1 gttcaagcgc tgattctggg gacactccaa agttcaaaag tctgttctgt agcactgaga
       61 cacatgcagc aagagaagta gaagcaaacc agacaggtga gattccttac agccatgcag
      121 aggagcaatc atacagtgac tgagtttata ctgctgggct tcaccacaga cccaggaatg
      181 cagctgggcc tcttcgtggt gttcctgggc gtgtactctc tcactgtggt aggaaatagc
      241 accctcatcg tgttgatctg taatgactcc tgcctccaca cacccatgta ttttttcact
      301 ggaaatctgt cgtttctgga tctctggtat tcttctgtct acaccccaaa gatcctagtg
      361 acctgcatct ctgaagacaa aagcatctcc tttgctggct gcctgtgtca gttcttcttc
      421 tctgcagggc tggcctatag tgagtgctac ctgctggctg ccgtggctta tgaccgctac
      481 gtggccatct ccaagcccct gctttatgcc caggccatgt ccataaagct gtgtgcattg
      541 ctggtagcag tctcatattg tggtggcttt attaactctt caatcatcac caagaaaacg
      601 ttttccttta acttctgccg tgaaaacatc attgatgact ttttctgtga tttgcttccc
      661 ttggtggagc tggcctgtgg cgagaagggc ggctataaaa ttatgatgta cttcctgctg
      721 gcctccaatg tcatctgccc cgcagtgctc atcctggcct cctacctctt tatcatcacc
      781 agtgtcttga ggatctcctc ctccaagggc tacctcaaag ccttctccac atgctcctcc
      841 cacctgacct ctgtcacttt atactatggc tccattctct acatctacgc tctccccaga
      901 tctagctatt cttttgatat ggacaaaata gtttctacat tttacactgt ggtattcccc
      961 atgttgaatc tcatgatcta cagcctaagg aataaggatg tgaaagaggc tctgaaaaaa
     1021 cttctcccat aaatcaagat tatctccacc agaggagaaa caaagacgac cttagatgga
     1081 gtgttgtgta tttcaaacag agttaccatt gtgctttatc gtgatcagtc cccttcttga
     1141 cacgtgagag ttacagacat gtacaataag aaaattagga aaatttcgga caaaaacatc
     1201 tgaatatata agaatttgaa ttgaatttcc tatctctctt attaaaaaca aacataaacc
     1261 ttaagcccaa aacctctcct ataccttcat aaagtgagga acagcctacc tcattagcct
     1321 aagatttggc taactgatac atatagaaga gtatctatat agttcctaga actaggaaga
     1381 attgtgctca atttttaata ttttcctatg tttaactgga tgaaattcat cactttccat
     1441 tccctgaaca gaatatctta aacattgttc tacatgcttt ccccccacaa gaagaattag
     1501 cacaaagatc cagaggcacc caagaaataa ctcagtacaa atgagaccca gaaaggcatg
     1561 accttgctat gcctcttaca taagtttctt gatgaagaaa aaattcatca agatgccata
     1621 tatatgattt ttgtaattca ctgtataact cccagagctc ctctttattt tacaggggtg
     1681 aacttacaag gacttttaca ttaaaattgt gaccttctga gcatcaaagg gcaattatca
     1741 tcatttaaaa aataattatt attttggcta agtgaaacaa tttcaaaaat aaaagtctat
     1801 gagtacacat tgatcaacag atattttatt tttattttta atagatattt tatagagaga
     1861 atatgtatgt acaggtgtga ttcaacaaaa ggatatttca cttagcataa tgtcttctag
     1921 gtttattcac gttgttgtag gtgacagaat tacatttctt gtaaggctga ttattattcc
     1981 attgtgtact atatgccact ttttctttta tcgatttatc tgttgatggg cacttacgtt
     2041 gtttctaatt gttagctatt gtgaataata ctgcaatgaa catgaaagca cagatatctc
     2101 ctcaacatac ctatatcaat tcctgtaagc atctacccag aagtggaatt gttagatcat
     2161 atggtaattc tatttttagt ttttggagag acctctatat tgtttttcaa aatggctgtg
     2221 ctaatgtaca ttcccatcaa tggagtataa gagttccctt tactccacat cctggccaat
     2281 gcttgataat tttcatcttt ttgataatga ccattgtaat ataatgcata atgtataata
     2341 tacgaagtga tatttcatta tgataagtga aataagccag gcacagaaga aaacatattg
     2401 aatcatccca cttatgagtg ggttctaaaa gttagaactc ctacaagtag agaatacaat
     2461 agtagttgcc agtgactggg gcagggtggg tggagaaagg agaagtgttg atcaaagggt
     2521 acaaagtttc atgtaggcag gaggaataag ttctggtgaa ctattgcagg acaaggtgac
     2581 tacagttaac agtaatgtat tgtgtatttc aaaatcattt aaaaagtgga tcttacatgt
     2641 tctcaccaca aagcagtggt aagtatatga ggtgatggac ataataatta gtcgaagatg
     2701 ttcaatctac aatgtataca tgtactgaag cattgtcttt taccccatac atatataaaa
     2761 ttatggttta tcaatatgaa taaaatttaa aaaacaaaaa gatgaatatg acaagtggca
     2821 tttaattttc attagttttt caatgtaaga tagtactaat gtaatttatg cttataaaca
     2881 caaattctct ctggtttgaa ttggcacaag cagtaaaggg agaaaatgca agaaactgaa
     2941 ttaggcaggt agacccagaa aatgtacaag attcacacag agtagaaaga gtaaatccac
     3001 actggcaatc atggacatta caaagtaagt gggtgcaaga aataaaatca atgcaagttg
     3061 caacacacag taacacagcc gaaacagagt ccaacagtgt aattccaaga tgctcgtgtc
     3121 agccgttcta aaaaggaacg ctatatatgc caactcagtc ttctggtttt ctaaaataca
     3181 tgttctattt cccactaatg atattaaaat tcctataaaa cacattcttc attttttaaa
     3241 gtaatgttaa cagactcaat tagtatattg cagtggcagt aaatcaatta ttttatgttt
     3301 cttgaccgaa actagaaagt acatcattcc agagggaagc atcaattgca gaaagtaaaa
     3361 ctgatgtgac acatctaatc ttaaaacacc gtggtatcat aaaccctgac atgtaactat
     3421 agaagagagt ctcaaactac ttgacggctt ctattctaat atttttatgg gagcctacca
     3481 gaattcattc ttcaaataag aataagaata tgcccatata tccatatatt gtaaacatag
     3541 ctcgctaagt gcatattcat attattttat acttggaagt tagctctaga attatgtcta
     3601 agtaatatta c
//
LOCUS       NM_001005214            1372 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.
ACCESSION   NM_001005214
VERSION     NM_001005214.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1372)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1372)
  AUTHORS   Li Q, Fan F, Kwak HR and Yan J.
  TITLE     Molecular basis for differential modulation of BK channel
            voltage-dependent gating by auxiliary gamma subunits
  JOURNAL   J Gen Physiol 145 (6), 543-554 (2015)
   PUBMED   26009545
  REMARK    GeneRIF: Suggest that BK channel modulation by auxiliary gamma
            subunits depends on intra- and/or juxta-membrane mechanisms.
REFERENCE   3  (bases 1 to 1372)
  AUTHORS   Yan J and Aldrich RW.
  TITLE     BK potassium channel modulation by leucine-rich repeat-containing
            proteins
  JOURNAL   Proc Natl Acad Sci U S A 109 (20), 7917-7922 (2012)
   PUBMED   22547800
REFERENCE   4  (bases 1 to 1372)
  AUTHORS   Ehret GB, O'Connor AA, Weder A, Cooper RS and Chakravarti A.
  TITLE     Follow-up of a major linkage peak on chromosome 1 reveals suggestive
            QTLs associated with essential hypertension: GenNet study
  JOURNAL   Eur J Hum Genet 17 (12), 1650-1657 (2009)
   PUBMED   19536175
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 1372)
  AUTHORS   Cheung CL, Chan BY, Chan V, Ikegawa S, Kou I, Ngai H, Smith D, Luk
            KD, Huang QY, Mori S, Sham PC and Kung AW.
  TITLE     Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible
            genetic association with bone mineral density variation
  JOURNAL   Hum Mol Genet 18 (4), 679-687 (2009)
   PUBMED   19064610
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK098677.1, SRR5189667.222454.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000294818.2/ ENSP00000294818.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL157714.8.
            On Aug 8, 2019 this sequence version replaced NM_001005214.3.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1372
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.1"
     gene            1..1372
                     /gene="LRRC52"
                     /note="leucine rich repeat containing 52"
                     /db_xref="GeneID:440699"
                     /db_xref="HGNC:HGNC:32156"
                     /db_xref="MIM:615218"
     misc_feature    154..156
                     /gene="LRRC52"
                     /note="upstream in-frame stop codon"
     CDS             298..1239
                     /gene="LRRC52"
                     /note="leucine-rich repeat-containing protein 52; BK
                     channel auxilliary gamma subunit LRRC52; BK channel
                     auxiliary gamma subunit LRRC52"
                     /codon_start=1
                     /product="leucine-rich repeat-containing protein 52
                     precursor"
                     /protein_id="NP_001005214.2"
                     /db_xref="CCDS:CCDS30930.1"
                     /db_xref="GeneID:440699"
                     /db_xref="HGNC:HGNC:32156"
                     /db_xref="MIM:615218"
                     /translation="MSLASGPGPGWLLFSFGMGLVSGSKCPNNCLCQAQEVICTGKQLT
                     EYPLDIPLNTRRLFLNENRITSLPAMHLGLLSDLVYLDCQNNRIREVMDYTFIGVFKLI
                     YLDLSSNNLTSISPFTFSVLSNLVQLNIANNPHLLSLHKFTFANTTSLRYLDLRNTGLQ
                     TLDSAALYHLTTLETLFLSGNPWKCNCSFLDFAIFLIVFHMDPSDDLNATCVEPTELTG
                     WPITRVGNPLRYMCITHLDHKDYIFLLLIGFCIFAAGTVAAWLTGVCAVLYQNTRHKSS
                     EEDEDEAGTRVEVSRRIFQTQTSSVQEFPQLI"
     sig_peptide     298..366
                     /gene="LRRC52"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    457..522
                     /gene="LRRC52"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7C0.2);
                     Region: LRR 1"
     misc_feature    529..594
                     /gene="LRRC52"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7C0.2);
                     Region: LRR 2"
     misc_feature    601..666
                     /gene="LRRC52"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7C0.2);
                     Region: LRR 3"
     misc_feature    631..633
                     /gene="LRRC52"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N7C0.2); glycosylation site"
     misc_feature    673..741
                     /gene="LRRC52"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7C0.2);
                     Region: LRR 4"
     misc_feature    739..741
                     /gene="LRRC52"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N7C0.2); glycosylation site"
     misc_feature    748..813
                     /gene="LRRC52"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7C0.2);
                     Region: LRR 5"
     misc_feature    862..864
                     /gene="LRRC52"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N7C0.2); glycosylation site"
     misc_feature    928..930
                     /gene="LRRC52"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N7C0.2); glycosylation site"
     misc_feature    1030..1092
                     /gene="LRRC52"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7C0.2);
                     transmembrane region"
     regulatory      1353..1358
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC52"
                     /note="hexamer: AATAAA"
     polyA_site      1372
                     /gene="LRRC52"
                     /note="major polyA site"
ORIGIN
        1 ccccttcact tgcaaacgca gggaaagggt gagacctttc aaagctgcca agtgggcaag
       61 cttccagcag cagtctggga gcgagcgaca gagccaccaa gctgggcggc agggcattga
      121 gcctcgcgtt tcaatttctg ttcagttctc ctgtaatgga aaattgcttt gcacaaagct
      181 aaagtgttac agttctttcc agagcccctc ccccgcccca cccccccacc ggcagccttc
      241 ggatcagagg acagagcccg caggaaggtg aaaggagggt ggttgtggct tcttactatg
      301 tcccttgctt caggccctgg ccctgggtgg ttactctttt cctttggaat ggggctggta
      361 tcagggtcaa agtgtccaaa taattgtctg tgtcaagccc aagaagtaat ctgcacaggg
      421 aagcagttaa ccgaataccc ccttgacata cccctgaaca cccggaggct gttcctgaac
      481 gagaacagaa tcactagttt gccagcaatg catctaggac tcctcagtga ccttgtttat
      541 ttggactgtc agaacaaccg gattcgagag gtgatggatt ataccttcat cggggtcttc
      601 aaactcatct accttgacct cagctccaac aacctaacct cgatctcccc attcactttc
      661 tcggtgctca gcaacctggt gcagctgaac attgccaaca accctcacct gttatcgctt
      721 cacaagttca cctttgccaa caccacctct ttgaggtacc tggacctcag aaataccggc
      781 ttgcagaccc tggacagtgc tgccttatac cacctcacta ctctggagac cctgtttctg
      841 agtggaaacc cctggaagtg caactgctct ttcctggact tcgccatctt cttaatagtg
      901 ttccatatgg acccctcaga tgatctaaat gccacatgtg tggagcccac agagctgaca
      961 gggtggccca tcacccgggt ggggaaccca ctccgataca tgtgcatcac gcacctggac
     1021 cacaaagact acatcttcct gctgctcatc ggcttctgca tcttcgccgc gggaactgtg
     1081 gctgcctggc tcacaggtgt gtgtgctgtg ctctaccaga acacccgcca caagtcgagt
     1141 gaagaagatg aggacgaggc cgggactagg gtggaagtca gccggcggat ttttcaaacc
     1201 cagacgagct cggtccagga gttccctcag cttatttagt tgccagagac cactatctta
     1261 tgtgcctccc ccaggctccc tgctttctct cttgccctcc ccatcccacc accttggagc
     1321 tgtcatagag attgaaacct tctagtaaaa taaataaaat ctctgatggc ca
//
LOCUS       NM_001005216            3298 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily J member 3
            (OR2J3), mRNA.
ACCESSION   NM_001005216
VERSION     NM_001005216.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3298)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3298)
  AUTHORS   Kalbe B, Schulz VM, Schlimm M, Philippou S, Jovancevic N, Jansen F,
            Scholz P, Lubbert H, Jarocki M, Faissner A, Hecker E, Veitinger S,
            Tsai T, Osterloh S and Hatt H.
  TITLE     Helional-induced activation of human olfactory receptor 2J3 promotes
            apoptosis and inhibits proliferation in a non-small-cell lung cancer
            cell line
  JOURNAL   Eur J Cell Biol 96 (1), 34-46 (2017)
   PUBMED   27939274
  REMARK    GeneRIF: OR2J3 activation induces apoptosis and inhibits cell
            proliferation and migration in long-term stimulus experiments with
            helional.
REFERENCE   3  (bases 1 to 3298)
  AUTHORS   St Pourcain B, Whitehouse AJ, Ang WQ, Warrington NM, Glessner JT,
            Wang K, Timpson NJ, Evans DM, Kemp JP, Ring SM, McArdle WL, Golding
            J, Hakonarson H, Pennell CE and Smith GD.
  TITLE     Common variation contributes to the genetic architecture of social
            communication traits
  JOURNAL   Mol Autism 4 (1), 34 (2013)
   PUBMED   24047820
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3298)
  AUTHORS   Garcia-Esparcia P, Schluter A, Carmona M, Moreno J, Ansoleaga B,
            Torrejon-Escribano B, Gustincich S, Pujol A and Ferrer I.
  TITLE     Functional genomics reveals dysregulation of cortical olfactory
            receptors in Parkinson disease: novel putative chemoreceptors in the
            human brain
  JOURNAL   J Neuropathol Exp Neurol 72 (6), 524-539 (2013)
   PUBMED   23656994
REFERENCE   5  (bases 1 to 3298)
  AUTHORS   McRae JF, Mainland JD, Jaeger SR, Adipietro KA, Matsunami H and
            Newcomb RD.
  TITLE     Genetic variation in the odorant receptor OR2J3 is associated with
            the ability to detect the 'grassy' smelling odor, cis-3-hexen-1-ol
  JOURNAL   Chem Senses 37 (7), 585-593 (2012)
   PUBMED   22714804
  REMARK    GeneRIF: Two amino acid substitutions, T113A and R226Q, impaired the
            ability of OR2J3 to respond to cis-3-hexen-1-ol, and together these
            two substitutions effectively abolished the response to the
            compound.
REFERENCE   6  (bases 1 to 3298)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3298)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   8  (bases 1 to 3298)
  AUTHORS   Volz A, Ehlers A, Younger R, Forbes S, Trowsdale J, Schnorr D, Beck
            S and Ziegler A.
  TITLE     Complex transcription and splicing of odorant receptor genes
  JOURNAL   J Biol Chem 278 (22), 19691-19701 (2003)
   PUBMED   12637542
REFERENCE   9  (bases 1 to 3298)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
REFERENCE   10  (bases 1 to 3298)
  AUTHORS   Glusman G, Yanai I, Rubin I and Lancet D.
  TITLE     The complete human olfactory subgenome
  JOURNAL   Genome Res 11 (5), 685-702 (2001)
   PUBMED   11337468
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641151.2/ ENSP00000492961.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL645937.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 6, 2020 this sequence version replaced NM_001005216.3.
            Summary: This gene encodes a G-protein-coupled receptor (GPCR) that
            functions as an olfactory receptor. Olfactory receptors interact
            with odorant molecules in the nose to initiate a neuronal response
            that triggers the perception of a smell. The protein encoded by
            this gene responds to cis-3-hexen-1-ol, which is released by
            wounded plants, including cut grass. This gene is situated in a
            cluster of similar olfactory-receptor coding genes on chromosome 6.
            [provided by RefSeq, May 2013].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3298
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     gene            1..3298
                     /gene="OR2J3"
                     /gene_synonym="6M1-3; C3HEXS; HS6M1-3; OR6-16; OR6-6;
                     OR6.3.6; ORL671"
                     /note="olfactory receptor family 2 subfamily J member 3"
                     /db_xref="GeneID:442186"
                     /db_xref="HGNC:HGNC:8261"
                     /db_xref="MIM:615016"
     misc_feature    413..415
                     /gene="OR2J3"
                     /gene_synonym="6M1-3; C3HEXS; HS6M1-3; OR6-16; OR6-6;
                     OR6.3.6; ORL671"
                     /note="upstream in-frame stop codon"
     CDS             419..1354
                     /gene="OR2J3"
                     /gene_synonym="6M1-3; C3HEXS; HS6M1-3; OR6-16; OR6-6;
                     OR6.3.6; ORL671"
                     /note="olfactory receptor OR6-16; olfactory receptor 6-6"
                     /codon_start=1
                     /product="olfactory receptor 2J3"
                     /protein_id="NP_001005216.2"
                     /db_xref="CCDS:CCDS43433.1"
                     /db_xref="GeneID:442186"
                     /db_xref="HGNC:HGNC:8261"
                     /db_xref="MIM:615016"
                     /translation="MNDDGKVNASSEGYFILVGFSNWPHLEVVIFVVVLIFYLMTLIGN
                     LFIIILSYLDSHLHTPMYFFLSNLSFLDLCYTTSSIPQLLVNLWGPEKTISYAGCMIQL
                     YFVLALGTTECVLLVVMSYDRYAAVCRPLHYTVLMHPRFCHLLAVASWVSGFTNSALHS
                     SFTFWVPLCGHRQVDHFFCEVPALLRLSCVDTHVNELTLMITSSIFVLIPLILILTSYG
                     AIVRAILRMQSTTGLQKVFGTCGAHLMAVSLFFIPAMCMYLQPPSGNSQDQGKFIALFY
                     TVVTPSLNPLIYTLRNKVVRGAVKRLMGWE"
     misc_feature    440..442
                     /gene="OR2J3"
                     /gene_synonym="6M1-3; C3HEXS; HS6M1-3; OR6-16; OR6-6;
                     OR6.3.6; ORL671"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O76001.1); glycosylation site"
     misc_feature    503..574
                     /gene="OR2J3"
                     /gene_synonym="6M1-3; C3HEXS; HS6M1-3; OR6-16; OR6-6;
                     OR6.3.6; ORL671"
                     /note="propagated from UniProtKB/Swiss-Prot (O76001.1);
                     transmembrane region"
     misc_feature    599..664
                     /gene="OR2J3"
                     /gene_synonym="6M1-3; C3HEXS; HS6M1-3; OR6-16; OR6-6;
                     OR6.3.6; ORL671"
                     /note="propagated from UniProtKB/Swiss-Prot (O76001.1);
                     transmembrane region"
     misc_feature    728..787
                     /gene="OR2J3"
                     /gene_synonym="6M1-3; C3HEXS; HS6M1-3; OR6-16; OR6-6;
                     OR6.3.6; ORL671"
                     /note="propagated from UniProtKB/Swiss-Prot (O76001.1);
                     transmembrane region"
     misc_feature    845..901
                     /gene="OR2J3"
                     /gene_synonym="6M1-3; C3HEXS; HS6M1-3; OR6-16; OR6-6;
                     OR6.3.6; ORL671"
                     /note="propagated from UniProtKB/Swiss-Prot (O76001.1);
                     transmembrane region"
     misc_feature    1013..1084
                     /gene="OR2J3"
                     /gene_synonym="6M1-3; C3HEXS; HS6M1-3; OR6-16; OR6-6;
                     OR6.3.6; ORL671"
                     /note="propagated from UniProtKB/Swiss-Prot (O76001.1);
                     transmembrane region"
     misc_feature    1136..1204
                     /gene="OR2J3"
                     /gene_synonym="6M1-3; C3HEXS; HS6M1-3; OR6-16; OR6-6;
                     OR6.3.6; ORL671"
                     /note="propagated from UniProtKB/Swiss-Prot (O76001.1);
                     transmembrane region"
     misc_feature    1244..1303
                     /gene="OR2J3"
                     /gene_synonym="6M1-3; C3HEXS; HS6M1-3; OR6-16; OR6-6;
                     OR6.3.6; ORL671"
                     /note="propagated from UniProtKB/Swiss-Prot (O76001.1);
                     transmembrane region"
ORIGIN
        1 agctttctct tctgtagcaa tgatagtcat agctacattc agactgtttt cctaattgat
       61 gtagtagatg agggaagtgt aggcatttat gttggtgatt tcaaggtgat caaaatcaga
      121 gatcagatca gtctgtgcat gatgagggca tcagctagga agacaatata cagggaatgt
      181 ggacagatac aggaaggaca gagtgaaagg cattgtttga gtactgctta agtactagag
      241 acatggtctc acttcattgc ccaggctagt ctcgaacttc tgggctccag agatccaccc
      301 accttggcct cccaaagtgt caggattaca ggtgtgagcc acggcacccg acccaggaag
      361 aagaaaatta acccagaaaa attcctacct tttccttgct tgcatctggt aataggaaat
      421 gaatgatgat ggaaaagtca atgctagctc tgaggggtac tttattttag ttggattttc
      481 taattggcct catctggaag tagttatctt tgtggttgtc ttgatcttct acttgatgac
      541 actgatagga aacctgttca tcatcatcct gtcatacctg gactcccatc tgcacacacc
      601 aatgtacttc ttcctttcaa acctctcatt tctggatctc tgctacacca ccagctctat
      661 ccctcagttg ctggtcaatc tctggggccc ggaaaagacc atctcttatg ctggttgcat
      721 gattcaactt tactttgttc tcgcactggg aaccacagag tgtgtcctac tggtggtgat
      781 gtcctatgac cgttatgcag ctgtgtgtag acctttgcat tacactgtcc tcatgcaccc
      841 tcgtttctgc cacctgctgg ctgtggcttc ttgggtaagt ggttttacca actcagcact
      901 tcattcctcc ttcaccttct gggtacctct gtgtggacac cgccaagtag atcacttttt
      961 ctgtgaagtt ccagcacttc tgcgattatc gtgtgttgat acccatgtca atgagctgac
     1021 cctcatgatc acaagctcca tatttgttct catacctctc atcctcattc tcacttctta
     1081 tggtgccatc gtccgagcta tactgaggat gcagtcaacc actgggcttc agaaagtgtt
     1141 tggaacatgt ggagctcatc ttatggctgt atctctcttt ttcattccgg ccatgtgcat
     1201 gtatctccag ccaccatcag gaaattctca agatcaaggc aagttcattg ccctctttta
     1261 tactgttgtc acacctagtc ttaaccctct aatctacacc ctcagaaaca aagttgtaag
     1321 aggggcagtg aagagactaa tggggtggga atgagcctgt gtatgtgtca tattaacaat
     1381 ataacagagt ctcccctcac aatgattcat ccttctattt atttatcaac cattctttta
     1441 ttcactcact ctgttagcac ttgctgagca tgtactctaa caaggtcgtg gagttcctgg
     1501 taacaggtag gaataaaaca cagtcagcct aaataccatt cacttgtgga gaaaacagct
     1561 atgtaaaatc aagataaaac atctatagtg atgtttttcc atggtacaaa cctaatgtat
     1621 ccaagacaga catttctcga ttgaaaataa ggcatgaaat ttgttgtaaa tcttgataaa
     1681 agcgaagctg taaatcctat gaaaagatga tactctcaat ttaaaaatct ctacaatatg
     1741 tcttttaatt tcttgctttt tgggcagaat acttttgtct tctatcttta gtttagttaa
     1801 atacacagca aaatacttca aatccttttc tccaacaatg cttattcttt gtcggatagt
     1861 aaattttgag aggaattttg gtccatattc tttcatatcc agtatcaata gtagaacaat
     1921 aagttttatg aattgtagta agagaggctt tgaaacagta tagcagaagt cagcatctga
     1981 gatccctctt ttttgcaagg cagtgagaaa tatataggaa gtaaaaggag ctggtaaagc
     2041 tgagctatgg agcttataaa caaatggtca tcataggcta ggtatactta ggtgaggtaa
     2101 gtgcttggag caactgcatt acctaaggaa ctaaggaaaa catttgaggc aaatagagag
     2161 gctctgaaaa tgacttgaag ccaatgggtg tatgaaagaa ttatgtgaaa atatattgga
     2221 aaaattttat gatagaaact gtcatatgga aaatgatagc ttatttttat tttaaagctt
     2281 gatctaattt gagtatttat ggttaataag tatattatgt atgtcaatat atgtgtttca
     2341 aataaagaaa tctattttat agaagtaatc attttgtttt atatattatt gtcaaccatc
     2401 ttcgtttgaa ataattgcgc tatacctaga gcaatttaaa ctgacagtca tagtcaaatg
     2461 aagcggaaaa atggctaaag gagaattcag tataaagtaa cgtacttgca atgcctgagt
     2521 tttctctata actcaaatgt cagctgtagc ttttgaggcc tgtgagattt agatatgatt
     2581 gattcacaca ctatttccta aattattata aaaataaaaa cgcatctcag aacttccctc
     2641 caatttctag tgtgacttgc aattgcattg attctgctga ctttatcttc cttctgcatc
     2701 tctgactctt cctttatttc taactaggca tgaaaaatat gaggcatgtg cccttgtcct
     2761 taaccttacc caagaagtga agaaccaaga ataatgtatg taaaatgact tttagcaaga
     2821 attgggacca catacggtaa aacatcacat aaaaacacat ttttaaaaac ttaaagaaca
     2881 taacttcgcc ctttgaactg ttttctacta tggaaatctt acgatttgga gcacttacgg
     2941 tagcatcctg gtttctcacc tactcaaata tcccccccct ccccatcttt attaaggata
     3001 agtgaaaaaa atgtatttat ttataatata cagcataatg ttttgacata tgcataatta
     3061 tgcaattatt actcaagcta attaacagat cattaactca catacttacc tgttttgtgg
     3121 tgagaacatt taggatctat tatcttagca gttttcaact atgcagtaca gtattattag
     3181 ctatagtcac cataccgtag aatagatctc ttgaatttgt tccttccatc tgaaactttg
     3241 taccctttga ccaatatctc cccattttcc ctatttctct ccactgctaa cccctgac
//
LOCUS       NM_001005218            1299 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily B member 21
            (OR5B21), mRNA.
ACCESSION   NM_001005218
VERSION     NM_001005218.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1299)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360374.3/ ENSP00000353537.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003557.2.
            On Nov 17, 2020 this sequence version replaced NM_001005218.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1299
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..1299
                     /gene="OR5B21"
                     /note="olfactory receptor family 5 subfamily B member 21"
                     /db_xref="GeneID:219968"
                     /db_xref="HGNC:HGNC:19616"
     CDS             1..930
                     /gene="OR5B21"
                     /codon_start=1
                     /product="olfactory receptor 5B21"
                     /protein_id="NP_001005218.1"
                     /db_xref="CCDS:CCDS31552.1"
                     /db_xref="GeneID:219968"
                     /db_xref="HGNC:HGNC:19616"
                     /translation="MENSTEVTEFILLGLTDDPNLQIPLLLAFLFIYLITLLGNGGMMV
                     IIHSDSHLHTPMYFFLSNLSLVDLGYSSAVAPKTVAALRSGDKAISYDGCAAQFFFFVG
                     FATVECYLLASMAYDRHAAVCRPLHYTTTMTAGVCALLATGSYVSGFLNASIHAAGTFR
                     LSFCGSNEINHFFCDIPPLLALSCSDTRISKLVVFVAGFNVFFTLLVILISYFFICITI
                     QRMHSAEGQKKVFSTCASHLTALSIFYGTIIFMYLQPNSSQSVDTDKIASVFYTVVIPM
                     LNPLIYSLRNKEVKSALWKILNKLYPQY"
     misc_feature    7..9
                     /gene="OR5B21"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NL26.1); glycosylation site"
     misc_feature    79..141
                     /gene="OR5B21"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NL26.1);
                     transmembrane region"
     misc_feature    166..228
                     /gene="OR5B21"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NL26.1);
                     transmembrane region"
     misc_feature    286..348
                     /gene="OR5B21"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NL26.1);
                     transmembrane region"
     misc_feature    412..474
                     /gene="OR5B21"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NL26.1);
                     transmembrane region"
     misc_feature    598..660
                     /gene="OR5B21"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NL26.1);
                     transmembrane region"
     misc_feature    706..768
                     /gene="OR5B21"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NL26.1);
                     transmembrane region"
     misc_feature    778..780
                     /gene="OR5B21"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NL26.1); glycosylation site"
     misc_feature    811..873
                     /gene="OR5B21"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NL26.1);
                     transmembrane region"
ORIGIN
        1 atggagaata gcacagaagt gacagagttt atcctcttgg gattaacaga tgaccccaat
       61 cttcagatac ccctcctcct ggcattttta ttcatctacc tcatcaccct gcttgggaat
      121 gggggaatga tggtgatcat ccactcagac tcccatctcc acactccaat gtactttttc
      181 ctcagtaacc tctcccttgt agacttgggt tactcatcag ctgtagcccc caaaacggtg
      241 gctgcattgc ggtcagggga caaggccatc tcctacgatg gatgtgcagc tcagttcttc
      301 ttctttgtgg ggtttgccac tgttgagtgc tacctcctgg cctccatggc ctatgatcgc
      361 catgcagcgg tatgtaggcc tcttcattac accaccacca tgacagcagg tgtgtgtgcc
      421 ctccttgcta ctggttccta tgtctctggc ttcctcaatg cctctatcca tgcagcaggc
      481 accttcagac tctccttctg tggttctaat gagattaatc atttcttctg tgacattccc
      541 ccactcctgg ctctctcatg ctctgacaca cgcatcagca agttggtggt ctttgtggca
      601 ggcttcaacg tctttttcac cctcctggtc atccttattt cttacttctt catatgcatc
      661 accattcaga ggatgcattc tgctgaaggg cagaagaaag tcttctccac ctgtgcttcc
      721 catctcactg ctttgtccat cttctatggc acaatcatct tcatgtactt acagcccaac
      781 tccagccagt ccgtggacac agacaaaata gcctctgtgt tttacacagt ggtgattccc
      841 atgctgaatc ccttgatata cagccttagg aacaaagaag tgaaaagtgc tctctggaaa
      901 atactcaaca aactttaccc ccaatattaa atgtgaatgg gaagtaggca agcaattaag
      961 ggataaactt tctctcacac ctaaatgcca tcatgacttt taacgtttga ctggtttcag
     1021 ttctttcttc cccaagaaca gcggttactt ctgctattag aagatgtaaa aagcagcacg
     1081 ttgaaagtct tacttagaaa gataatctta tatttagtga acaacaacat gggacagtta
     1141 agcttttctt gctttagttt cttgacgtgg tttaaagcag aagattgaag catacaaatg
     1201 aatgtaccaa attttcctca tcctgttttt aattgtaaga atttttcatt cactattaaa
     1261 cttggtgtaa agatttcacc ttcattttta tcaactgaa
//
LOCUS       NM_001005221             939 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily F member 29
            (OR4F29), mRNA.
ACCESSION   NM_001005221
VERSION     NM_001005221.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 939)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000426406.4/ ENSP00000409316.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL732372.15.
            On Dec 25, 2006 this sequence version replaced NM_001005221.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..939
                     /gene="OR4F29"
                     /gene_synonym="OR7-21"
                     /note="olfactory receptor family 4 subfamily F member 29"
                     /db_xref="GeneID:729759"
                     /db_xref="HGNC:HGNC:31275"
     CDS             1..939
                     /gene="OR4F29"
                     /gene_synonym="OR7-21"
                     /note="olfactory receptor OR7-21; seven transmembrane helix
                     receptor; olfactory receptor OR1-1"
                     /codon_start=1
                     /product="olfactory receptor 4F3/4F16/4F29"
                     /protein_id="NP_001005221.2"
                     /db_xref="CCDS:CCDS72675.1"
                     /db_xref="GeneID:729759"
                     /db_xref="HGNC:HGNC:31275"
                     /translation="MDGENHSVVSEFLFLGLTHSWEIQLLLLVFSSVLYVASITGNILI
                     VFSVTTDPHLHSPMYFLLASLSFIDLGACSVTSPKMIYDLFRKRKVISFGGCIAQIFFI
                     HVVGGVEMVLLIAMAFDRYVALCKPLHYLTIMSPRMCLSFLAVAWTLGVSHSLFQLAFL
                     VNLAFCGPNVLDSFYCDLPRLLRLACTDTYRLQFMVTVNSGFICVGTFFILLISYVFIL
                     FTVWKHSSGGSSKALSTLSAHSTVVLLFFGPPMFVYTRPHPNSQMDKFLAIFDAVLTPF
                     LNPVVYTFRNKEMKAAIKRVCKQLVIYKRIS"
     misc_feature    13..15
                     /gene="OR4F29"
                     /gene_synonym="OR7-21"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6IEY1.1); glycosylation site"
     misc_feature    76..147
                     /gene="OR4F29"
                     /gene_synonym="OR7-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR4F29"
                     /gene_synonym="OR7-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR4F29"
                     /gene_synonym="OR7-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR4F29"
                     /gene_synonym="OR7-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1);
                     transmembrane region"
     misc_feature    586..657
                     /gene="OR4F29"
                     /gene_synonym="OR7-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1);
                     transmembrane region"
     misc_feature    706..774
                     /gene="OR4F29"
                     /gene_synonym="OR7-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1);
                     transmembrane region"
     misc_feature    808..867
                     /gene="OR4F29"
                     /gene_synonym="OR7-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1);
                     transmembrane region"
ORIGIN
        1 atggatggag agaatcactc agtggtatct gagtttttgt ttctgggact cactcattca
       61 tgggagatcc agctcctcct cctagtgttt tcctctgtgc tctatgtggc aagcattact
      121 ggaaacatcc tcattgtgtt ttctgtgacc actgaccctc acttacactc ccccatgtac
      181 tttctactgg ccagtctctc cttcattgac ttaggagcct gctctgtcac ttctcccaag
      241 atgatttatg acctgttcag aaagcgcaaa gtcatctcct ttggaggctg catcgctcaa
      301 atcttcttca tccacgtcgt tggtggtgtg gagatggtgc tgctcatagc catggccttt
      361 gacagatatg tggccctatg taagcccctc cactatctga ccattatgag cccaagaatg
      421 tgcctttcat ttctggctgt tgcctggacc cttggtgtca gtcactccct gttccaactg
      481 gcatttcttg ttaatttagc cttctgtggc cctaatgtgt tggacagctt ctactgtgac
      541 cttcctcggc ttctcagact agcctgtacc gacacctaca gattgcagtt catggtcact
      601 gttaacagtg ggtttatctg tgtgggtact ttcttcatac ttctaatctc ctacgtcttc
      661 atcctgttta ctgtttggaa acattcctca ggtggttcat ccaaggccct ttccactctt
      721 tcagctcaca gcacagtggt ccttttgttc tttggtccac ccatgtttgt gtatacacgg
      781 ccacacccta attcacagat ggacaagttt ctggctattt ttgatgcagt tctcactcct
      841 tttctgaatc cagttgtcta tacattcagg aataaggaga tgaaggcagc aataaagaga
      901 gtatgcaaac agctagtgat ttacaagagg atctcataa
//
LOCUS       NM_001005226            1106 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily B member 3
            (OR2B3), mRNA.
ACCESSION   NM_001005226
VERSION     NM_001005226.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1106)
  AUTHORS   St Pourcain B, Whitehouse AJ, Ang WQ, Warrington NM, Glessner JT,
            Wang K, Timpson NJ, Evans DM, Kemp JP, Ring SM, McArdle WL, Golding
            J, Hakonarson H, Pennell CE and Smith GD.
  TITLE     Common variation contributes to the genetic architecture of social
            communication traits
  JOURNAL   Mol Autism 4 (1), 34 (2013)
   PUBMED   24047820
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1106)
  AUTHORS   Barcellos LF, May SL, Ramsay PP, Quach HL, Lane JA, Nititham J,
            Noble JA, Taylor KE, Quach DL, Chung SA, Kelly JA, Moser KL, Behrens
            TW, Seldin MF, Thomson G, Harley JB, Gaffney PM and Criswell LA.
  TITLE     High-density SNP screening of the major histocompatibility complex
            in systemic lupus erythematosus demonstrates strong evidence for
            independent susceptibility regions
  JOURNAL   PLoS Genet 5 (10), e1000696 (2009)
   PUBMED   19851445
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 1106)
  AUTHORS   Clamp M, Fry B, Kamal M, Xie X, Cuff J, Lin MF, Kellis M,
            Lindblad-Toh K and Lander ES.
  TITLE     Distinguishing protein-coding and noncoding genes in the human
            genome
  JOURNAL   Proc Natl Acad Sci U S A 104 (49), 19428-19433 (2007)
   PUBMED   18040051
REFERENCE   4  (bases 1 to 1106)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   5  (bases 1 to 1106)
  AUTHORS   Volz A, Ehlers A, Younger R, Forbes S, Trowsdale J, Schnorr D, Beck
            S and Ziegler A.
  TITLE     Complex transcription and splicing of odorant receptor genes
  JOURNAL   J Biol Chem 278 (22), 19691-19701 (2003)
   PUBMED   12637542
REFERENCE   6  (bases 1 to 1106)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377173.4/ ENSP00000366378.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AJ459873.1 and BC136817.1.
            On Mar 12, 2009 this sequence version replaced NM_001005226.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1106
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     gene            1..1106
                     /gene="OR2B3"
                     /gene_synonym="6M1-1; OR2B3P; OR6-14; OR6-4"
                     /note="olfactory receptor family 2 subfamily B member 3"
                     /db_xref="GeneID:442184"
                     /db_xref="HGNC:HGNC:8238"
     misc_feature    57..59
                     /gene="OR2B3"
                     /gene_synonym="6M1-1; OR2B3P; OR6-14; OR6-4"
                     /note="upstream in-frame stop codon"
     CDS             66..1007
                     /gene="OR2B3"
                     /gene_synonym="6M1-1; OR2B3P; OR6-14; OR6-4"
                     /note="olfactory receptor OR6-14; hs6M1-1; olfactory
                     receptor 6-4"
                     /codon_start=1
                     /product="putative olfactory receptor 2B3"
                     /protein_id="NP_001005226.1"
                     /db_xref="CCDS:CCDS34358.1"
                     /db_xref="GeneID:442184"
                     /db_xref="HGNC:HGNC:8238"
                     /translation="MNWENESSPKEFILLGFSDRAWLQMPLFVVLLISYTITIFGNVSI
                     MMVCILDPKLHTPMYFFLTNLSILDLCYTTTTVPHMLVNIGCNKKTISYAGCVAHLIIF
                     LALGATECLLLAVMSFDRYVAVCRPLHYVVIMNYWFCLRMAAFSWLIGFGNSVLQSSLT
                     LNMPRCGHQEVDHFFCEVPALLKLSCADTKPIEAELFFFSVLILLIPVTLILISYGFIA
                     QAVLKIRSAEGRQKAFGTCGSHMIVVSLFYGTAIYMYLQPPSSTSKDWGKMVSLFYGII
                     TSMLNSLIYSLRNKDMKEAFKRLMPRIFFCKK"
     misc_feature    78..80
                     /gene="OR2B3"
                     /gene_synonym="6M1-1; OR2B3P; OR6-14; OR6-4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O76000.1); glycosylation site"
     misc_feature    141..212
                     /gene="OR2B3"
                     /gene_synonym="6M1-1; OR2B3P; OR6-14; OR6-4"
                     /note="propagated from UniProtKB/Swiss-Prot (O76000.1);
                     transmembrane region"
     misc_feature    237..302
                     /gene="OR2B3"
                     /gene_synonym="6M1-1; OR2B3P; OR6-14; OR6-4"
                     /note="propagated from UniProtKB/Swiss-Prot (O76000.1);
                     transmembrane region"
     misc_feature    366..425
                     /gene="OR2B3"
                     /gene_synonym="6M1-1; OR2B3P; OR6-14; OR6-4"
                     /note="propagated from UniProtKB/Swiss-Prot (O76000.1);
                     transmembrane region"
     misc_feature    483..539
                     /gene="OR2B3"
                     /gene_synonym="6M1-1; OR2B3P; OR6-14; OR6-4"
                     /note="propagated from UniProtKB/Swiss-Prot (O76000.1);
                     transmembrane region"
     misc_feature    651..722
                     /gene="OR2B3"
                     /gene_synonym="6M1-1; OR2B3P; OR6-14; OR6-4"
                     /note="propagated from UniProtKB/Swiss-Prot (O76000.1);
                     transmembrane region"
     misc_feature    774..842
                     /gene="OR2B3"
                     /gene_synonym="6M1-1; OR2B3P; OR6-14; OR6-4"
                     /note="propagated from UniProtKB/Swiss-Prot (O76000.1);
                     transmembrane region"
     misc_feature    882..941
                     /gene="OR2B3"
                     /gene_synonym="6M1-1; OR2B3P; OR6-14; OR6-4"
                     /note="propagated from UniProtKB/Swiss-Prot (O76000.1);
                     transmembrane region"
ORIGIN
        1 ataaacaaac attgattgct ttcctatctt acattttttt aggagtgcga aataagtgag
       61 tcatcatgaa ttgggaaaat gagagctccc caaaagagtt tatactactt ggcttctcag
      121 atagggcttg gctacaaatg cccctttttg tggtcctgtt aatatcatac acaatcacca
      181 tatttggcaa tgtgtccatc atgatggtgt gcattctgga tcccaaactt catactccca
      241 tgtatttctt tctcactaat ctctccatct tagatctctg ctataccaca actacagtcc
      301 ctcatatgtt ggtaaatatt ggttgcaaca aaaagaccat cagctatgct ggctgtgtgg
      361 cccacctcat catcttcctg gccctaggtg ctacagagtg tctccttctg gctgttatgt
      421 cctttgacag atatgtggct gtttgcagac ccctccacta tgtagtcatc atgaattatt
      481 ggttctgcct aaggatggca gccttctcat ggctcattgg tttcggcaac tcagtgctgc
      541 agtcttcctt gactcttaac atgccacgct gtggtcacca ggaagtggac cactttttct
      601 gtgaggtgcc tgcacttctc aagttgtcat gtgctgacac aaagcctatt gaggctgagc
      661 tcttcttctt tagtgtacta attcttctaa ttccagtgac attgatcctc atctcctatg
      721 gcttcatagc tcaagcagta ttaaaaatca ggtcagcaga aggacggcaa aaagcatttg
      781 ggacatgtgg gtcccacatg attgtggtgt ccctctttta tggaacagcc atttatatgt
      841 atcttcaacc accttcatcc acctctaagg actggggaaa gatggtttcc ctcttctatg
      901 gaatcatcac atccatgttg aactccctca tctacagcct tagaaataaa gatatgaagg
      961 aggccttcaa gaggctgatg ccaagaatct ttttctgtaa gaaataagaa gtactccatt
     1021 gtgatgagaa tcttcttagt ctttccttat cttcaatgat ggtaatgacc tttgaactca
     1081 ttttcctatt ttccaggctc tggtga
//
LOCUS       NM_001005234             975 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 1 subfamily L member 3
            (OR1L3), mRNA.
ACCESSION   NM_001005234
VERSION     NM_001005234.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 975)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 975)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   3  (bases 1 to 975)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304820.5/ ENSP00000302863.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065492.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..975
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     gene            1..975
                     /gene="OR1L3"
                     /gene_synonym="OR9-28; OR9-D"
                     /note="olfactory receptor family 1 subfamily L member 3"
                     /db_xref="GeneID:26735"
                     /db_xref="HGNC:HGNC:8215"
     CDS             1..975
                     /gene="OR1L3"
                     /gene_synonym="OR9-28; OR9-D"
                     /note="olfactory receptor OR9-28; olfactory receptor 9-D"
                     /codon_start=1
                     /product="olfactory receptor 1L3"
                     /protein_id="NP_001005234.1"
                     /db_xref="CCDS:CCDS35128.1"
                     /db_xref="GeneID:26735"
                     /db_xref="HGNC:HGNC:8215"
                     /translation="MGMSNLTRLSEFILLGLSSRSEDQRPLFALFLIIYLVTLMGNLLI
                     ILAIHSDPRLQNPMYFFLSILSFADICYTTVIVPKMLVNFLSEKKTISYAECLAQMYFF
                     LVFGNIDSYLLAAMAINRCVAICNPFHYVTVMNRRCCVLLLAFPITFSYFHSLLHVLLV
                     NRLTFCTSNVIHHFFCDVNPVLKLSCSSTFVNEIVAMTEGLASVMAPFVCIIISYLRIL
                     IAVLKIPSAAGKHKAFSTCSSHLTVVILFYGSISYVYLQPLSSYTVKDRIATINYTVLT
                     SVLNPFIYSLRNKDMKRGLQKLINKIKSQMSRFSTKTNKICGP"
     misc_feature    13..15
                     /gene="OR1L3"
                     /gene_synonym="OR9-28; OR9-D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH93.1); glycosylation site"
     misc_feature    76..147
                     /gene="OR1L3"
                     /gene_synonym="OR9-28; OR9-D"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH93.1);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR1L3"
                     /gene_synonym="OR9-28; OR9-D"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH93.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR1L3"
                     /gene_synonym="OR9-28; OR9-D"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH93.1);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR1L3"
                     /gene_synonym="OR9-28; OR9-D"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH93.1);
                     transmembrane region"
     misc_feature    589..657
                     /gene="OR1L3"
                     /gene_synonym="OR9-28; OR9-D"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH93.1);
                     transmembrane region"
     misc_feature    709..777
                     /gene="OR1L3"
                     /gene_synonym="OR9-28; OR9-D"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH93.1);
                     transmembrane region"
     misc_feature    814..873
                     /gene="OR1L3"
                     /gene_synonym="OR9-28; OR9-D"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH93.1);
                     transmembrane region"
ORIGIN
        1 atgggaatgt ccaacctgac aagactctct gaatttattc tcttgggact ctcctctcgg
       61 tctgaagacc agaggccact ctttgccctc tttcttatca tatacctggt cactttgatg
      121 ggaaatctgc tcatcatctt ggctatccac tctgatcctc gacttcaaaa ccctatgtat
      181 tttttcctaa gcatcttgtc ctttgctgat atttgctaca caacagtcat agtcccaaag
      241 atgctcgtga acttcttatc agagaaaaag accatttcct atgctgaatg tctggcacag
      301 atgtatttct tcctggtttt tggaaacata gatagttatc tcctggcggc tatggccatc
      361 aaccgctgtg tagccatttg taacccattc cattatgtca ctgttatgaa ccgcagatgc
      421 tgtgtgttgc tactagcatt ccccatcact ttctcctatt tccactctct cctacatgtc
      481 ctcctggtga atcggctcac cttttgtaca tcaaatgtta tccatcattt tttttgtgat
      541 gtcaaccctg tgctgaaact gtcctgctcc tccacctttg tcaatgaaat tgtggccatg
      601 acagaagggc tggcctctgt gatggctcca tttgtctgta tcatcatctc ttatctaaga
      661 attctcatcg ctgttctcaa gattccctca gcagctggaa aacacaaagc cttctccacc
      721 tgcagctccc atctcactgt ggtgattctg ttttatggga gtattagcta tgtctatttg
      781 cagcctttgt ccagctatac tgtcaaggac cgaatagcaa caatcaacta cactgtgttg
      841 acatcagtgt tgaacccatt tatctacagt ttaagaaaca aagacatgaa acggggctta
      901 cagaaattga taaacaagat taagtctcaa atgagtaggt tctctacaaa gaccaataaa
      961 atctgtggac cctga
//
LOCUS       NM_001005235             936 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 1 subfamily L member 4
            (OR1L4), mRNA.
ACCESSION   NM_001005235
VERSION     NM_001005235.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 936)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 936)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259466.1/ ENSP00000259466.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC006313.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     gene            1..936
                     /gene="OR1L4"
                     /gene_synonym="OR1L5; OR9-29; OR9-E; OST046"
                     /note="olfactory receptor family 1 subfamily L member 4"
                     /db_xref="GeneID:254973"
                     /db_xref="HGNC:HGNC:8216"
     CDS             1..936
                     /gene="OR1L4"
                     /gene_synonym="OR1L5; OR9-29; OR9-E; OST046"
                     /note="olfactory receptor, family 1, subfamily L, member 5;
                     olfactory receptor OR9-29; olfactory receptor 1L5;
                     olfactory receptor 9-E"
                     /codon_start=1
                     /product="olfactory receptor 1L4"
                     /protein_id="NP_001005235.1"
                     /db_xref="CCDS:CCDS35129.1"
                     /db_xref="GeneID:254973"
                     /db_xref="HGNC:HGNC:8216"
                     /translation="METKNYSSSTSGFILLGLSSNPKLQKPLFAIFLIMYLLTAVGNVL
                     IILAIYSDPRLHTPMYFFLSNLSFMDICFTTVIVPKMLVNFLSETKIISYVGCLIQMYF
                     FMAFGNTDSYLLASMAIDRLVAICNPLHYDVVMKPWHCLLMLLGSCSISHLHSLFRVLL
                     MSRLSFCASHIIKHFFCDTQPVLKLSCSDTSSSQMVVMTETLAVIVTPFLCTIFSYLQI
                     IVTVLRIPSAAGKWKAFSTCGSHLTVVVLFYGSVIYVYFRPLSMYSVMKGRVATVMYTV
                     VTPMLNPFIYSLRNKDMKRGLKKLRHRIYS"
     misc_feature    13..15
                     /gene="OR1L4"
                     /gene_synonym="OR1L5; OR9-29; OR9-E; OST046"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGR5.1); glycosylation site"
     misc_feature    79..150
                     /gene="OR1L4"
                     /gene_synonym="OR1L5; OR9-29; OR9-E; OST046"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR5.1);
                     transmembrane region"
     misc_feature    175..240
                     /gene="OR1L4"
                     /gene_synonym="OR1L5; OR9-29; OR9-E; OST046"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR5.1);
                     transmembrane region"
     misc_feature    304..363
                     /gene="OR1L4"
                     /gene_synonym="OR1L5; OR9-29; OR9-E; OST046"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR5.1);
                     transmembrane region"
     misc_feature    421..477
                     /gene="OR1L4"
                     /gene_synonym="OR1L5; OR9-29; OR9-E; OST046"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR5.1);
                     transmembrane region"
     misc_feature    592..660
                     /gene="OR1L4"
                     /gene_synonym="OR1L5; OR9-29; OR9-E; OST046"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR5.1);
                     transmembrane region"
     misc_feature    712..780
                     /gene="OR1L4"
                     /gene_synonym="OR1L5; OR9-29; OR9-E; OST046"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR5.1);
                     transmembrane region"
     misc_feature    820..879
                     /gene="OR1L4"
                     /gene_synonym="OR1L5; OR9-29; OR9-E; OST046"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGR5.1);
                     transmembrane region"
ORIGIN
        1 atggagacaa agaattatag cagcagcacc tcaggcttca tcctcctggg cctctcttcc
       61 aaccctaagc tgcagaaacc tctctttgcc atcttcctca tcatgtacct actcactgcg
      121 gtggggaatg tgctcatcat cctggccatc tactctgacc ccaggctcca cacccctatg
      181 tacttttttc tcagcaactt gtctttcatg gatatctgct tcacaacagt catagtgcct
      241 aagatgctgg tgaattttct atcagagaca aagattatct cttatgtggg ctgcctgatc
      301 cagatgtact tcttcatggc atttgggaac actgacagct acctgctggc ctctatggcc
      361 atcgaccggc tggtggccat ctgcaacccc ttacactatg atgtggttat gaaaccatgg
      421 cattgcctac tcatgctatt gggttcttgc agcatctccc acctacattc cctgttccgc
      481 gtgctactta tgtctcgctt gtctttctgt gcctctcaca tcattaagca ctttttctgt
      541 gacacccagc ctgtgctaaa gctctcctgc tctgacacat cctccagcca gatggtggtg
      601 atgactgaga ccttagctgt cattgtgacc cccttcctgt gtaccatctt ctcctacctg
      661 caaatcatcg tcactgtgct cagaatcccc tctgcagccg ggaagtggaa ggccttctct
      721 acctgtggct cccacctcac tgtagtggtc ctgttctatg ggagtgtcat ctatgtctat
      781 tttaggcctc tgtccatgta ctcagtgatg aagggccggg tagccacagt tatgtacaca
      841 gtagtgacac ccatgctgaa ccctttcatc tacagcctga ggaacaaaga tatgaaaagg
      901 ggtttgaaga aattaagaca cagaatttac tcatag
//
LOCUS       NM_001005236             933 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 1 subfamily L member 1
            (OR1L1), mRNA.
ACCESSION   NM_001005236
VERSION     NM_001005236.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 933)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309623.1/ ENSP00000310773.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL162254.17.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 28, 2009 this sequence version replaced NM_001005236.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..933
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     gene            1..933
                     /gene="OR1L1"
                     /gene_synonym="HG23; OR1L2; OR9-27; OR9-C"
                     /note="olfactory receptor family 1 subfamily L member 1"
                     /db_xref="GeneID:26737"
                     /db_xref="HGNC:HGNC:8213"
     CDS             1..933
                     /gene="OR1L1"
                     /gene_synonym="HG23; OR1L2; OR9-27; OR9-C"
                     /note="olfactory receptor, family 1, subfamily L, member 2;
                     olfactory receptor OR9-27; olfactory receptor 1L2;
                     olfactory receptor 9-C"
                     /codon_start=1
                     /product="olfactory receptor 1L1"
                     /protein_id="NP_001005236.3"
                     /db_xref="CCDS:CCDS35127.2"
                     /db_xref="GeneID:26737"
                     /db_xref="HGNC:HGNC:8213"
                     /translation="MGRNNLTRPSEFILLGLSSRPEDQKPLFAVFLPIYLITVIGNLLI
                     ILAIRSDTRLQTPMYFFLSILSFVDICYVTVIIPKMLVNFLSETKTISYSECLTQMYFF
                     LAFGNTDSYLLAAMAIDRYVAICNPFHYITIMSHRCCVLLLVLSFCIPHFHSLLHILLT
                     NQLIFCASNVIHHFFCDDQPVLKLSCSSHFVKEITVMTEGLAVIMTPFSCIIISYLRIL
                     ITVLKIPSAAGKRKAFSTCGSHLTVVTLFYGSISYLYFQPLSNYTVKDQIATIIYTVLT
                     PMLNPFIYSLRNKDMKQGLAKLMHRMKCQ"
ORIGIN
        1 atgggaagaa ataacctaac aagaccctct gaattcatcc tccttggact ctcctctcga
       61 cctgaggatc agaagccgct ctttgctgtg ttcctcccca tctaccttat cacagtgata
      121 ggaaacctgc ttatcatcct ggccatccgc tcagacactc gtctccagac gcccatgtac
      181 ttctttctaa gcatcctgtc ttttgttgac atttgctatg tgacagtcat tatccctaag
      241 atgctggtga acttcttatc agagacaaag accatctctt acagtgagtg tctgacccag
      301 atgtactttt tcttagcctt tggaaacaca gacagttacc tgctagcagc catggccatt
      361 gaccgctatg tggccatatg taatcccttc cactacatca ccattatgag tcacagatgc
      421 tgtgtcctgc ttctggttct ctccttctgc attccacatt ttcactccct cctgcacatt
      481 cttctgacta atcagctcat cttctgtgcc tcaaatgtca tccatcactt tttctgcgat
      541 gatcaaccag tgctaaaatt gtcctgttcc tcccattttg tcaaagaaat cacagtaatg
      601 acagaaggct tggctgtcat aatgaccccg ttttcatgca tcatcatctc ttatttaaga
      661 atcctcatca ctgttctgaa gattccttca gctgctggaa agcgtaaagc attttctacc
      721 tgtggctctc atctcacagt ggtgaccctg ttttatggaa gcattagcta tctctatttt
      781 cagcccctgt ccaactatac tgtcaaggat caaatagcaa caattatcta caccgtactg
      841 actcctatgc taaatccatt tatctatagt ctgaggaaca aagacatgaa gcagggtttg
      901 gcaaagttga tgcacaggat gaaatgtcag taa
//
LOCUS       NM_001005237             966 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily G member 1
            (OR51G1), mRNA.
ACCESSION   NM_001005237
VERSION     NM_001005237.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 966)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 966)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 966)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136852.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000623849.1/ ENSP00000485612.1
            polymorphic pseudogene   :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC018375.8.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jun 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be non-functional as an olfactory receptor
            according to the Classifier for Olfactory Receptor Pseudogenes.
FEATURES             Location/Qualifiers
     source          1..966
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..966
                     /gene="OR51G1"
                     /gene_synonym="OR11-29; OR51G3P"
                     /note="olfactory receptor family 51 subfamily G member 1"
                     /db_xref="GeneID:79324"
                     /db_xref="HGNC:HGNC:14738"
     CDS             1..966
                     /gene="OR51G1"
                     /gene_synonym="OR11-29; OR51G3P"
                     /note="olfactory receptor OR11-29; olfactory receptor 51G3"
                     /codon_start=1
                     /product="olfactory receptor 51G1"
                     /protein_id="NP_001005237.1"
                     /db_xref="GeneID:79324"
                     /db_xref="HGNC:HGNC:14738"
                     /translation="MTILLNSSLQRATFFLTGFQGLEGLHGWISIPFCFIYLTVILGNL
                     TILHVICTDATLHGPMYYFLGMLAVTDLGLCLSTLPTVLGIFWFDTREIGIPACFTQLF
                     FIHTLSSMESSVLLSMSIDRYVAVCNPLHDSTVLTPACIVKMGLSSVLRSALLILPLPF
                     LLKRFQYCHSHVLAHAYCLHLEIMKLACSSIIVNHIYGLFVVACTVGVDSLLIFLSYAL
                     ILRTVLSIASHQERLRALNTCVSHICAVLLFYIPMIGLSLVHRFGEHLPRVVHLFMSYV
                     YLLVPPLMNPIIYSIKTKQIRQRIIKKFQFIKSLRCFWKD"
     misc_feature    16..18
                     /gene="OR51G1"
                     /gene_synonym="OR11-29; OR51G3P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGK1.1); glycosylation site"
     misc_feature    82..144
                     /gene="OR51G1"
                     /gene_synonym="OR11-29; OR51G3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK1.1);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR51G1"
                     /gene_synonym="OR11-29; OR51G3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK1.1);
                     transmembrane region"
     misc_feature    304..366
                     /gene="OR51G1"
                     /gene_synonym="OR11-29; OR51G3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK1.1);
                     transmembrane region"
     misc_feature    424..486
                     /gene="OR51G1"
                     /gene_synonym="OR11-29; OR51G3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK1.1);
                     transmembrane region"
     misc_feature    595..657
                     /gene="OR51G1"
                     /gene_synonym="OR11-29; OR51G3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK1.1);
                     transmembrane region"
     misc_feature    718..780
                     /gene="OR51G1"
                     /gene_synonym="OR11-29; OR51G3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK1.1);
                     transmembrane region"
     misc_feature    826..888
                     /gene="OR51G1"
                     /gene_synonym="OR11-29; OR51G3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK1.1);
                     transmembrane region"
ORIGIN
        1 atgacaattc ttcttaatag cagcctccaa agagccactt tcttcctgac gggcttccaa
       61 ggtctagaag gtctccatgg ctggatctct attcccttct gcttcatcta cctgacagtt
      121 atcttgggga acctcaccat tctccacgtc atttgtactg atgccactct ccatggaccc
      181 atgtactatt tcttgggcat gctagctgtc acagacttag gcctttgcct ttccacactg
      241 cccactgtgc tgggcatttt ctggtttgat accagagaga ttggcatccc tgcctgtttc
      301 actcagctct tcttcatcca caccttgtct tcaatggagt catcagttct gttatccatg
      361 tccattgacc gctacgtggc cgtctgcaac ccactgcatg actccaccgt cctgacacct
      421 gcatgtattg tcaagatggg gctaagctca gtgcttagaa gtgctctcct catcctcccc
      481 ttgccattcc tcctgaagcg cttccaatac tgccactccc atgtgctggc tcatgcttat
      541 tgtcttcacc tggagatcat gaagctggcc tgctctagca tcattgtcaa tcacatctat
      601 gggctctttg ttgtggcctg caccgtgggt gtggactccc tgctcatctt tctctcatac
      661 gccctcatcc ttcgcaccgt gctcagcatt gcctcccacc aggagcgact ccgagccctc
      721 aacacctgtg tctctcatat ctgtgctgta ctgctcttct acatccccat gattggcttg
      781 tctcttgtgc atcgctttgg tgaacatctg ccccgcgttg tacacctctt catgtcctat
      841 gtgtatctgc tggtaccacc ccttatgaac cccatcatct acagcatcaa gaccaagcaa
      901 attcgccagc gcatcattaa gaagtttcag tttataaagt cacttaggtg tttttggaag
      961 gattaa
//
LOCUS       NM_001005238            3326 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily G member 2
            (OR51G2), mRNA.
ACCESSION   NM_001005238
VERSION     NM_001005238.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3326)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 3326)
  AUTHORS   Gilad Y, Bustamante CD, Lancet D and Paabo S.
  TITLE     Natural selection on the olfactory receptor gene family in humans
            and chimpanzees
  JOURNAL   Am J Hum Genet 73 (3), 489-501 (2003)
   PUBMED   12908129
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641926.1/ ENSP00000493323.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018375.8.
            On Jul 27, 2020 this sequence version replaced NM_001005238.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..3326
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..3326
                     /gene="OR51G2"
                     /gene_synonym="OR11-28"
                     /note="olfactory receptor family 51 subfamily G member 2"
                     /db_xref="GeneID:81282"
                     /db_xref="HGNC:HGNC:15198"
     misc_feature    167..169
                     /gene="OR51G2"
                     /gene_synonym="OR11-28"
                     /note="upstream in-frame stop codon"
     CDS             251..1195
                     /gene="OR51G2"
                     /gene_synonym="OR11-28"
                     /note="olfactory receptor OR11-28"
                     /codon_start=1
                     /product="olfactory receptor 51G2"
                     /protein_id="NP_001005238.1"
                     /db_xref="CCDS:CCDS31365.1"
                     /db_xref="GeneID:81282"
                     /db_xref="HGNC:HGNC:15198"
                     /translation="MTLGSLGNSSSSVSATFLLSGIPGLERMHIWISIPLCFMYLVSIP
                     GNCTILFIIKTERSLHEPMYLFLSMLALIDLGLSLCTLPTVLGIFWVGAREISHDACFA
                     QLFFIHCFSFLESSVLLSMAFDRFVAICHPLHYVSILTNTVIGRIGLVSLGRSVALIFP
                     LPFMLKRFPYCGSPVLSHSYCLHQEVMKLACADMKANSIYGMFVIVSTVGIDSLLILFS
                     YALILRTVLSIASRAERFKALNTCVSHICAVLLFYTPMIGLSVIHRFGKQAPHLVQVVM
                     GFMYLLFPPVMNPIVYSVKTKQIRDRVTHAFCY"
     misc_feature    272..274
                     /gene="OR51G2"
                     /gene_synonym="OR11-28"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGK0.1); glycosylation site"
     misc_feature    341..403
                     /gene="OR51G2"
                     /gene_synonym="OR11-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK0.1);
                     transmembrane region"
     misc_feature    428..490
                     /gene="OR51G2"
                     /gene_synonym="OR11-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK0.1);
                     transmembrane region"
     misc_feature    563..625
                     /gene="OR51G2"
                     /gene_synonym="OR11-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK0.1);
                     transmembrane region"
     misc_feature    683..745
                     /gene="OR51G2"
                     /gene_synonym="OR11-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK0.1);
                     transmembrane region"
     misc_feature    854..916
                     /gene="OR51G2"
                     /gene_synonym="OR11-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK0.1);
                     transmembrane region"
     misc_feature    977..1039
                     /gene="OR51G2"
                     /gene_synonym="OR11-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK0.1);
                     transmembrane region"
     misc_feature    1085..1147
                     /gene="OR51G2"
                     /gene_synonym="OR11-28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK0.1);
                     transmembrane region"
ORIGIN
        1 catggccttt atttttagcc ttggtatgcg aggagttcat atagtagcca ggtgtttgat
       61 gctgagtgta gagccaagaa aagatcccag aaggctgagc ccgagctttg gagagagaaa
      121 tggtagaagg gactttgtct accaaaaggc tgcagagagc acctgctaag gatggtgcaa
      181 tcaccagtac tgcctcaatt tacttcagga ttttggaggg cacccacctt cccccttgtc
      241 tcctcacaca atgaccctgg gatccctggg aaacagcagc agcagcgttt ctgctacctt
      301 cctgctgagt ggcatccctg ggctggagcg catgcacatc tggatctcca tcccactgtg
      361 cttcatgtat ctggtttcca tcccgggcaa ctgcacaatt ctttttatca ttaaaacaga
      421 gcgctcactt catgaaccta tgtatctctt cctgtccatg ctggctctga ttgacctggg
      481 tctctccctt tgcactctcc ctacagtcct gggcatcttt tgggttggag cacgagaaat
      541 tagccatgat gcctgctttg ctcagctctt tttcattcac tgcttctcct tcctcgagtc
      601 ctctgtgcta ctgtctatgg cctttgaccg ctttgtggct atctgccacc ccttgcacta
      661 tgtttccatt ctcaccaaca cagtcattgg caggattggc ctggtctctc tgggtcgtag
      721 tgtagcactc atttttccat taccttttat gctcaaaaga ttcccctatt gtggctcccc
      781 agttctctca cattcttatt gtctccacca agaagtgatg aaattggcct gtgccgacat
      841 gaaggccaac agcatctacg gcatgtttgt catcgtctct acagtgggta tagactcact
      901 gctcatcctc ttctcttatg ctctgatcct gcgcaccgtg ctgtccatcg cctccagggc
      961 tgagagattc aaggccctta acacctgtgt ttcccacatc tgtgctgtgc tgctcttcta
     1021 cactcccatg attggcctct ctgtcatcca tcgctttgga aagcaggcac cccacctggt
     1081 ccaggtggtc atgggtttca tgtatcttct ctttcctcct gtgatgaatc ccattgtcta
     1141 cagtgtgaag accaaacaga tccgggatcg agtgacgcat gccttttgtt actaactgtg
     1201 tctagtgtta gagccactgt ctcctgaaac gtgcccttgt ttgcctatcc tttataattt
     1261 ctaacatgca taaaataaag gagacattta cttactcaac aaacatgtac agggatgagt
     1321 tacagtcctt acagaaccct cactctgttg tggccagggc aggggggggt aaaatgtaat
     1381 atgatgtggt aaattttatt ttctaaaaat agccacagca ataattctaa acccacatgc
     1441 tcttccagga acttgctact cctcataaag agatagggtc tacttcttct ccccttgaaa
     1501 ctggatagaa tttgtaaatg cctcatgaat tgagtattgt ggaaatagcc catgtatctt
     1561 ctctctctct ctctcttcca cctccattcc accactgttt ctgtctgttt cactcaacgc
     1621 ttgtttttga aacccagccc ctattctaag aggaagccca ggcgacgtgg agaaggccca
     1681 tgtaggtgtt ccatccagta ggctcagcca aggtctcact cagctaaggc tgagacctta
     1741 gctgagtcag tgttaaccac caatgagtag agaatcctca gatagttcca ttccccaacc
     1801 ttccagcctc tccaattggc atctggtaaa gcaatcaatt gttctctgac tcagccaaaa
     1861 tttcagtttt gtaaacaaaa taaatatttt taagacacta aattttggga agattcgtta
     1921 tacaatcaca tgttaattgt attcttcaaa gaaaaaagaa attggtttgg gagttgtctt
     1981 cccctagctg ggggaaggga gcatcagaaa agttttccct gagttgacac agtaatagcc
     2041 ttaagggaaa tgtaggcatt aggcagtcaa aaactgtaag aggaaggaga caaaaatatg
     2101 ttccagtcca aaggaacagc atgtgcaaag ctgaagcaga agtgagagag aggacagtgt
     2161 attctgagaa ttatctgaag tgttgttttt gttgccattt ttattctcta gaatgtcagg
     2221 aaggtttaag aaaaatgagg tgaagtggaa acagattgag gtactgactg tatcagaaag
     2281 agattataag ccaaggaacc aaggatagtt tgttatgccc ttttatatgt tgtattgtta
     2341 ttgtaccccc aagacattct agataaaagt tatattttga gtaatacatg tcaatatagt
     2401 atttgcagtt tgggcttgga ggtaactgtg aggaaagcaa gcttgaatgt gatattgcca
     2461 aggggagctt cgaacaccta gagagaagca tgagaatgtc atgttcctgc atggttttag
     2521 tgcagattaa gaaagggtgt ggctgaacac aatgtcttct actatgaagt gtatgtggac
     2581 cagttctcac ctgaggttgg tctcttccaa ggcaatctag tacacctgac atttaacatt
     2641 ggatatgcct gtccctgctc ccaacaccag tgtcccctcc tgtttggcat gagaacactg
     2701 tttctgcaat gatatcatca accccaaaat aatcaaaagg atcagaaccc agtttaaaag
     2761 agcttattta gccacaaagt tgagaatgac catttgagta acacagaccc cgaaggaatg
     2821 gggtcattgc tctgaagctg aaaagttaag gatttgctta tgcacgtgga aagcaaataa
     2881 atttaagagg actacaacat tttccacact aaggctgact tgtgagttat agtaatttga
     2941 atagttacag cttgtttttt ttttcttttc caatttgaaa gagtatgttt aacattccag
     3001 gctagacaac atgatagtcc tgaggttttt gtgtaagaga agtgagacgt aagttaatct
     3061 aaaaatgaag atcaacagtg gagtgggaaa aggtcttctc tagcattcta tagtttttta
     3121 cattttaaaa aacaatgtaa ttaaagaaaa ggaaaattac aataagagaa acaaagatta
     3181 cagctgccta ggttatagct gcctgttacg taactcagat cccataatca cattttttaa
     3241 ggctcaatat tccaacatct ttcattatga atttcttatt tttacaatgt gtatatgtga
     3301 attgtgtgta ttaacatgca aaaggc
//
LOCUS       NM_001005239             948 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 11 subfamily H member 1
            (OR11H1), mRNA.
ACCESSION   NM_001005239
VERSION     NM_001005239.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 948)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 948)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000643195.1/ ENSP00000495403.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000534.1.
            On Feb 19, 2021 this sequence version replaced NM_001005239.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..948
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.1"
     gene            1..948
                     /gene="OR11H1"
                     /gene_synonym="OR11H12; OR22-1"
                     /note="olfactory receptor family 11 subfamily H member 1"
                     /db_xref="GeneID:81061"
                     /db_xref="HGNC:HGNC:15404"
     CDS             1..948
                     /gene="OR11H1"
                     /gene_synonym="OR11H12; OR22-1"
                     /note="olfactory receptor OR22-1; seven transmembrane helix
                     receptor"
                     /codon_start=1
                     /product="olfactory receptor 11H1"
                     /protein_id="NP_001005239.2"
                     /db_xref="CCDS:CCDS74807.2"
                     /db_xref="GeneID:81061"
                     /db_xref="HGNC:HGNC:15404"
                     /translation="MNVSEPNSSFAFVNEFILQGFSCEWTIQIFLFSLFTTTYALTITG
                     NGAIAFVLWCDRRLHTPMYMFLGNFSFLEIWYVSSTVPKMLVNFLSEKKNISFAGCFLQ
                     FYFFFSLGTSECLLLTVMAFDQYLAICRPLLYPNIMTGHLYAKLVILCWVCGFLWFLIP
                     IVLISQMPFCGPNIIDHVVCDPGPRFALDCVSAPRIQLFCYTLSSLVIFGNFLFIIGSY
                     TLVLKAMLGMPSSTGRHKAFSTCGSHLAVVSLCYSSLMVMYVSPGLGHSTGMQKIETLF
                     YAMVTPLFNPLIYSLQNKEIKAALRKVLGSSNII"
ORIGIN
        1 atgaatgtct ctgagccaaa ttccagcttt gcttttgtaa atgaatttat actccaaggt
       61 ttctcttgtg agtggacaat tcagatcttc ctcttctcac tctttactac aacatatgca
      121 ctgactataa cagggaatgg agccattgct tttgtcctgt ggtgtgaccg gcgacttcac
      181 actcccatgt acatgttcct gggaaatttc tcctttttag agatatggta tgtctcttct
      241 acagttccca agatgttggt caacttcctt tcagagaaaa aaaacatctc ctttgctgga
      301 tgttttctcc agttttattt cttcttctct ttgggtacat cagaatgctt gcttttgact
      361 gtgatggcct ttgatcagta ccttgctatc tgccgtccct tgctctatcc taatatcatg
      421 actgggcatc tctatgccaa actggtcata ctgtgctggg tttgtggatt tctgtggttc
      481 ctgatcccca ttgttctcat ctctcagatg cccttctgtg gcccaaacat tattgaccat
      541 gttgtgtgtg acccagggcc acgatttgca ttggattgtg tttctgcccc aagaatccaa
      601 ctgttttgct acactctaag ctcattagtt atttttggta acttcctctt tattattgga
      661 tcctatactc ttgtcctgaa agctatgttg ggtatgcctt caagcactgg gagacataag
      721 gccttctcta cctgtgggtc tcatttggct gtggtatcac tgtgctatag ctctcttatg
      781 gtcatgtatg tgagcccagg actcggacat tctacaggga tgcagaaaat tgaaactttg
      841 ttctatgcta tggtgacccc actcttcaat ccccttatct atagcctcca gaataaggag
      901 ataaaggcag ccctgaggaa agttctgggg agttccaaca taatctaa
//
LOCUS       NM_001005240            2669 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily F member 17
            (OR4F17), mRNA.
ACCESSION   NM_001005240
VERSION     NM_001005240.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2669)
  AUTHORS   Linardopoulou E, Mefford HC, Nguyen O, Friedman C, van den Engh G,
            Farwell DG, Coltrera M and Trask BJ.
  TITLE     Transcriptional activity of multiple copies of a subtelomerically
            located olfactory receptor gene that is polymorphic in number and
            location
  JOURNAL   Hum Mol Genet 10 (21), 2373-2383 (2001)
   PUBMED   11689484
REFERENCE   2  (bases 1 to 2669)
  AUTHORS   Mefford HC, Linardopoulou E, Coil D, van den Engh G and Trask BJ.
  TITLE     Comparative sequencing of a multicopy subtelomeric region containing
            olfactory receptor genes reveals multiple interactions between
            non-homologous chromosomes
  JOURNAL   Hum Mol Genet 10 (21), 2363-2372 (2001)
   PUBMED   11689483
REFERENCE   3  (bases 1 to 2669)
  AUTHORS   Trask BJ, Friedman C, Martin-Gallardo A, Rowen L, Akinbami C,
            Blankenship J, Collins C, Giorgi D, Iadonato S, Johnson F, Kuo WL,
            Massa H, Morrish T, Naylor S, Nguyen OT, Rouquier S, Smith T, Wong
            DJ, Youngblom J and van den Engh G.
  TITLE     Members of the olfactory receptor gene family are contained in large
            blocks of DNA duplicated polymorphically near the ends of human
            chromosomes
  JOURNAL   Hum Mol Genet 7 (1), 13-26 (1998)
   PUBMED   9384599
COMMENT     ##Evidence-Data-START##
            Transcript exon combination      :: AY972817.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000585993.3/ ENSP00000467301.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008977.9.
            On Nov 17, 2020 this sequence version replaced NM_001005240.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2669
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..2669
                     /gene="OR4F17"
                     /gene_synonym="OR4F11P; OR4F18; OR4F19; OR4F5"
                     /note="olfactory receptor family 4 subfamily F member 17"
                     /db_xref="GeneID:81099"
                     /db_xref="HGNC:HGNC:15381"
     misc_feature    6..8
                     /gene="OR4F17"
                     /gene_synonym="OR4F11P; OR4F18; OR4F19; OR4F5"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MPHSVKIAVVSSSYEEGPVFSYPPPSLLFIIPVKLGLEHFFHIKVTAEAISWNESTSE
                     TNNS"
     CDS             192..1109
                     /gene="OR4F17"
                     /gene_synonym="OR4F11P; OR4F18; OR4F19; OR4F5"
                     /note="olfactory receptor, family 4, subfamily F, member 11
                     pseudogene; olfactory receptor, family 4, subfamily F,
                     member 19; olfactory receptor 4F11; olfactory receptor
                     4F18; olfactory receptor 4F19"
                     /codon_start=1
                     /product="olfactory receptor 4F17"
                     /protein_id="NP_001005240.1"
                     /db_xref="CCDS:CCDS32854.1"
                     /db_xref="GeneID:81099"
                     /db_xref="HGNC:HGNC:15381"
                     /translation="MVTEFIFLGLSDSQGLQTFLFMLFFVFYGGIVFGNLLIVITVVSD
                     SHLHSPMYFLLANLSLIDLSLSSVTAPKMITDFFSQRKVISFKGCLVQIFLLHFFGGSE
                     MVILIAMGFDRYIAICKPLHYTTIMCGNACVGIMAVAWGIGFLHSVSQLAFAVHLPFCG
                     PNEVDSFYCDLPRVIKLACTDTYRLDIMVIANSGVLTVCSFVLLIISYTIILMTIQHRP
                     LDKSSKALSTLTAHITVVLLFFGPCVFIYAWPFPIKSLDKFLAVFYSVITPLLNPIIYT
                     LRNKDMKTAIRQLRKWDAHSSVKF"
     misc_feature    246..317
                     /gene="OR4F17"
                     /gene_synonym="OR4F11P; OR4F18; OR4F19; OR4F5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA8.1);
                     transmembrane region"
     misc_feature    342..407
                     /gene="OR4F17"
                     /gene_synonym="OR4F11P; OR4F18; OR4F19; OR4F5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA8.1);
                     transmembrane region"
     misc_feature    471..530
                     /gene="OR4F17"
                     /gene_synonym="OR4F11P; OR4F18; OR4F19; OR4F5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA8.1);
                     transmembrane region"
     misc_feature    588..644
                     /gene="OR4F17"
                     /gene_synonym="OR4F11P; OR4F18; OR4F19; OR4F5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA8.1);
                     transmembrane region"
     misc_feature    756..827
                     /gene="OR4F17"
                     /gene_synonym="OR4F11P; OR4F18; OR4F19; OR4F5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA8.1);
                     transmembrane region"
     misc_feature    876..944
                     /gene="OR4F17"
                     /gene_synonym="OR4F11P; OR4F18; OR4F19; OR4F5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA8.1);
                     transmembrane region"
     misc_feature    978..1037
                     /gene="OR4F17"
                     /gene_synonym="OR4F11P; OR4F18; OR4F19; OR4F5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGA8.1);
                     transmembrane region"
ORIGIN
        1 tttttatgcc tcattctgtg aaaattgctg tagtctcttc cagttatgaa gaaggtccgg
       61 tgttttctta cccacctcct tccctccttt ttataatacc agtgaaactt ggtttggagc
      121 atttctttca cataaaggta actgcagagg ctatttcctg gaatgaatca acgagtgaaa
      181 cgaataactc tatggtgact gaattcattt ttctgggtct ctctgattct cagggactcc
      241 agaccttcct atttatgttg ttttttgtat tctatggagg aatcgtgttt ggaaaccttc
      301 ttattgtcat aacagtggta tctgactccc accttcactc tcccatgtac ttcctgctag
      361 ccaacctctc actcattgat ctgtctctgt cttcagtcac agcccccaag atgattactg
      421 actttttcag ccagcgcaaa gtcatctctt tcaagggctg ccttgttcag atatttctcc
      481 ttcacttctt tggtgggagt gagatggtga tcctcatagc catgggcttt gacagatata
      541 tagcaatatg caaaccccta cactacacta caattatgtg tggcaacgca tgtgtcggca
      601 ttatggctgt cgcatgggga attggctttc tccattcggt gagccagttg gcctttgccg
      661 tgcacttacc cttctgtggt cccaatgagg tcgatagttt ttattgtgac cttcctaggg
      721 taatcaaact tgcctgtaca gatacctaca ggctagatat tatggtcatt gctaacagtg
      781 gtgtgctcac tgtgtgttct tttgttcttc taatcatctc atacactatc atcctaatga
      841 ccatccagca tcgcccttta gataagtcgt ccaaagctct gtccactttg actgctcaca
      901 ttacagtagt tcttttgttc tttggaccat gtgtctttat ttatgcctgg ccattcccca
      961 tcaagtcatt agataaattc cttgctgtat tttattctgt gatcacccct ctcttgaacc
     1021 caattatata cacactgagg aacaaagaca tgaagacggc aataagacag ctgagaaaat
     1081 gggatgcaca ttctagtgta aagttttaga tcttatataa ctgtgagatt aatctcagat
     1141 aatgacacaa aatatagtga agttggtaag ttatttagta aagctcatga aaattgtgcc
     1201 ctccattccc atataattta ttaattgtct aggaacttcc acatacattg cctcaattta
     1261 tctttcaaca acttgtgtgt tatattttgg aatacagata caaagttatt atgctttcaa
     1321 aatattcttt tgctaattct tagaacaaag aaaggcataa atatattagt atttgtgtac
     1381 atctgttcct tcctgtgtga ccctaagttt agtagaagaa aggagagaaa atatagccta
     1441 gcttataaat ttaaaaaaaa atttatttgg tccattttgt gaaaaacata aaaaaagaac
     1501 tgtcacatct taatttaaaa aatatatgct tagtggtaag gagatatatg tcaactttta
     1561 agaggttgaa aaacaaacgc ctcccattat aagtttatac ttcacctccc accactataa
     1621 caacccagaa tccatgaggg cattatcagg agtgagtgga agagtaagtt tgccaatgtg
     1681 aaatgtgcct tctaggtcct agacatctgt ggtataactg ctcataagca gtagaaagaa
     1741 tttagaggga tccaggctct catcacgttg gcacaaagta tattacttgg atccatctat
     1801 gtcattttcc atggttaatg tttaaaacca caggctttaa agtaaaaaac aaagagctgg
     1861 attcaactct actgactctt attaatcatg attttgggca cattacgtag ctttcatgag
     1921 ctttagtttc tacatttata aacaggagat tatacctatt atgcacggtt attatgaagg
     1981 aaaatgacaa aatagatata aatcaaatag cccacttcga gacatattaa gcatgaataa
     2041 acattagata ctattaaaat cctatatatt aacaaagcca aaagtttcaa actttacttt
     2101 ttcccaacat tcttgtgaaa tatgacacat cccaatctta acagatgctc atttgggata
     2161 ctgtacttgt gagtggaagt gtgtatattt gtgtgcaagt gtgtactcat atacttccac
     2221 cttaccaccc tagaaaggca tgatgaaaat ttaagataga aggaaaatat aaattgaaaa
     2281 aaaaaaacct taacaaatga ttctgacaaa tatcttctct ttccagggag aatcactgag
     2341 ccagaataaa attgaacact aaatattcta agaaaaaagg aatctagttt gtcaaaatgt
     2401 gacttgaatt aatagataag gagagtcaga tgataagagg gtcaaaatta tgtttatctt
     2461 aggaaaagta gaatagaaaa tttataagca gattaaaaac acataataaa agtagtaaat
     2521 aataatgaca gtatctcaaa tcagtgcagg ggggaaaggc ctactaatgt gatggtggga
     2581 taattggata gcaatatggg aaaagatata tttaatttat ttgctacacc aaatgccagg
     2641 acaatctcta agtgaattca agacataac
//
LOCUS       NM_001005241            1341 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily N member 4
            (OR4N4), mRNA.
ACCESSION   NM_001005241
VERSION     NM_001005241.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1341)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328795.6/ ENSP00000332500.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC134980.3.
            On Nov 18, 2020 this sequence version replaced NM_001005241.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1341
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q11.2"
     gene            1..1341
                     /gene="OR4N4"
                     /gene_synonym="OR15-1; OR15-5"
                     /note="olfactory receptor family 4 subfamily N member 4"
                     /db_xref="GeneID:283694"
                     /db_xref="HGNC:HGNC:15375"
     CDS             1..951
                     /gene="OR4N4"
                     /gene_synonym="OR15-1; OR15-5"
                     /note="olfactory receptor OR15-1; olfactory receptor
                     OR15-5"
                     /codon_start=1
                     /product="olfactory receptor 4N4"
                     /protein_id="NP_001005241.2"
                     /db_xref="CCDS:CCDS32173.1"
                     /db_xref="GeneID:283694"
                     /db_xref="HGNC:HGNC:15375"
                     /translation="MKIANNTVVTEFILLGLTQSQDIQLLVFVLILIFYLIILPGNFLI
                     IFTIRSDPGLTAPLYLFLGNLAFLDASYSFIVAPRMLVDFLSEKKVISYRGCITQLFFL
                     HFLGGGEGLLLVVMAFDRYIAICRPLHCSTVMNPRACYAMMLALWLGGFVHSIIQVVLI
                     LRLPFCGPNQLDNFFCDVRQVIKLACTDMFVVELLMVFNSGLMTLLCFLGLLASYAVIL
                     CHVRRAASEGKNKAMSTCTTRVIIILLMFGPAIFIYMCPFRALPADKMVSLFHTVIFPL
                     MNPMIYTLRNQEVKTSMKRLLSRHVVCQVDFIIRN"
     misc_feature    13..15
                     /gene="OR4N4"
                     /gene_synonym="OR15-1; OR15-5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N0Y3.2); glycosylation site"
     misc_feature    76..147
                     /gene="OR4N4"
                     /gene_synonym="OR15-1; OR15-5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Y3.2);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR4N4"
                     /gene_synonym="OR15-1; OR15-5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Y3.2);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR4N4"
                     /gene_synonym="OR15-1; OR15-5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Y3.2);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR4N4"
                     /gene_synonym="OR15-1; OR15-5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Y3.2);
                     transmembrane region"
     misc_feature    586..657
                     /gene="OR4N4"
                     /gene_synonym="OR15-1; OR15-5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Y3.2);
                     transmembrane region"
     misc_feature    706..774
                     /gene="OR4N4"
                     /gene_synonym="OR15-1; OR15-5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Y3.2);
                     transmembrane region"
     misc_feature    808..867
                     /gene="OR4N4"
                     /gene_synonym="OR15-1; OR15-5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N0Y3.2);
                     transmembrane region"
     regulatory      1072..1077
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR4N4"
                     /gene_synonym="OR15-1; OR15-5"
                     /note="hexamer: AATAAA"
     polyA_site      1097
                     /gene="OR4N4"
                     /gene_synonym="OR15-1; OR15-5"
                     /note="major polyA site"
     regulatory      1319..1324
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR4N4"
                     /gene_synonym="OR15-1; OR15-5"
                     /note="hexamer: AATAAA"
     polyA_site      1341
                     /gene="OR4N4"
                     /gene_synonym="OR15-1; OR15-5"
ORIGIN
        1 atgaagatag caaacaacac agtagtgaca gaatttatcc tccttggtct gactcagtct
       61 caagatattc agctcttggt ctttgtgctg atcttaattt tctaccttat catcctccct
      121 ggaaattttc tcattatttt caccataagg tcagaccctg ggctcacagc ccccctctat
      181 ttatttctgg gcaacttggc cttcctggat gcatcctact ccttcattgt ggctcccagg
      241 atgttggtgg acttcctctc tgagaaaaag gtaatctcct acagaggctg catcactcag
      301 ctctttttct tgcacttcct tggaggaggg gagggattac tccttgttgt gatggccttt
      361 gaccgctaca tcgccatctg ccggcctctg cactgttcaa ctgtcatgaa ccctagagcc
      421 tgctatgcaa tgatgttggc tctgtggctt gggggttttg tccactccat tatccaggtg
      481 gtcctcatcc tccgcttgcc tttttgtggc ccaaaccagc tggacaactt cttctgtgat
      541 gtccgacagg tcatcaagct ggcttgcacc gacatgtttg tggtggagct tctaatggtc
      601 ttcaacagtg gcctgatgac actcctgtgc tttctggggc ttctggcttc ctatgcagtc
      661 atcctctgcc atgttcgtag ggcagcttct gaagggaaga acaaggccat gtccacgtgc
      721 accactcgtg tcattattat acttcttatg tttggacctg ctatcttcat ctacatgtgc
      781 cctttcaggg ccttaccagc tgacaagatg gtttctctct ttcacacagt gatctttcca
      841 ttgatgaatc ctatgattta tacccttcgc aaccaggaag tgaaaacttc catgaagagg
      901 ttattgagtc gacatgtagt ctgtcaagtg gattttataa taagaaactg agaaggagga
      961 attctggctg gaattcatat cattcattta acaagtcctg tttttcactg agtacctccc
     1021 atttgccagg taccattgta ggcaatggag gagagttatg cataatgaga gaataaactt
     1081 attatattta aagaatataa aggaaacccc agagtggttg aagtataatg agtaagtgtg
     1141 agaaatttaa gggttaagtt ttatgtgact gcaagggtct ttcggtctga ggtaagaatt
     1201 ttttcatatt ttaattgtgg taagaaccca ttttaatgtt ttaagcaaag gagcagttca
     1261 tctacaatgc tttcctctac tggttagagc aacatcagca agattttagg cagagattaa
     1321 taaactgtaa aatatcaaaa a
//
LOCUS       NM_001005242            4229 bp    mRNA    linear   PRI 22-SEP-2023
DEFINITION  Homo sapiens plakophilin 2 (PKP2), transcript variant 2a, mRNA.
ACCESSION   NM_001005242
VERSION     NM_001005242.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4229)
  AUTHORS   Lluch A, Latorre J, Serena-Maione A, Espadas I, Caballano-Infantes
            E, Moreno-Navarrete JM, Oliveras-Canellas N, Ricart W, Malagon MM,
            Martin-Montalvo A, Birchmeier W, Szymanski W, Graumann J,
            Gomez-Serrano M, Sommariva E, Fernandez-Real JM and Ortega FJ.
  TITLE     Impaired Plakophilin-2 in obesity breaks cell cycle dynamics to
            breed adipocyte senescence
  JOURNAL   Nat Commun 14 (1), 5106 (2023)
   PUBMED   37607954
  REMARK    GeneRIF: Impaired Plakophilin-2 in obesity breaks cell cycle
            dynamics to breed adipocyte senescence. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 4229)
  AUTHORS   Robles-Mezcua A, Ruiz-Salas A, Medina-Palomo C, Robles-Mezcua M,
            Diaz-Exposito A, Ortega-Jimenez MV, Gimeno-Blanes JR,
            Jimenez-Navarro MF and Garcia-Pinilla JM.
  TITLE     The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2
            Associated with Arrhythmogenic Cardiomyopathy in 8 Families from
            Malaga, Spain
  JOURNAL   Genes (Basel) 14 (7), 1468 (2023)
   PUBMED   37510372
  REMARK    GeneRIF: The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene
            PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families
            from Malaga, Spain. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4229)
  AUTHORS   Zhou Y, Liu Y, Gupta S, Paramo MI, Hou Y, Mao C, Luo Y, Judd J,
            Wierbowski S, Bertolotti M, Nerkar M, Jehi L, Drayman N, Nicolaescu
            V, Gula H, Tay S, Randall G, Wang P, Lis JT, Feschotte C, Erzurum
            SC, Cheng F and Yu H.
  TITLE     A comprehensive SARS-CoV-2-human protein-protein interactome reveals
            COVID-19 pathobiology and potential host therapeutic targets
  JOURNAL   Nat Biotechnol 41 (1), 128-139 (2023)
   PUBMED   36217030
REFERENCE   4  (bases 1 to 4229)
  AUTHORS   Perez-Hernandez M, van Opbergen CJM, Bagwan N, Vissing CR,
            Marron-Linares GM, Zhang M, Torres Vega E, Sorrentino A, Drici L,
            Sulek K, Zhai R, Hansen FB, Christensen AH, Boesgaard S, Gustafsson
            F, Rossing K, Small EM, Davies MJ, Rothenberg E, Sato PY, Cerrone M,
            Jensen THL, Qvortrup K, Bundgaard H, Delmar M and Lundby A.
  TITLE     Loss of Nuclear Envelope Integrity and Increased Oxidant Production
            Cause DNA Damage in Adult Hearts Deficient in PKP2: A Molecular
            Substrate of ARVC
  JOURNAL   Circulation 146 (11), 851-867 (2022)
   PUBMED   35959657
  REMARK    GeneRIF: Loss of Nuclear Envelope Integrity and Increased Oxidant
            Production Cause DNA Damage in Adult Hearts Deficient in PKP2: A
            Molecular Substrate of ARVC.
REFERENCE   5  (bases 1 to 4229)
  AUTHORS   Schmidt A, Langbein L, Pratzel S, Rode M, Rackwitz HR and Franke WW.
  TITLE     Plakophilin 3--a novel cell-type-specific desmosomal plaque protein
  JOURNAL   Differentiation 64 (5), 291-306 (1999)
   PUBMED   10374265
REFERENCE   6  (bases 1 to 4229)
  AUTHORS   Mertens C, Kuhn C, Moll R, Schwetlick I and Franke WW.
  TITLE     Desmosomal plakophilin 2 as a differentiation marker in normal and
            malignant tissues
  JOURNAL   Differentiation 64 (5), 277-290 (1999)
   PUBMED   10374264
REFERENCE   7  (bases 1 to 4229)
  AUTHORS   Bonne S, van Hengel J and van Roy F.
  TITLE     Chromosomal mapping of human armadillo genes belonging to the
            p120(ctn)/plakophilin subfamily
  JOURNAL   Genomics 51 (3), 452-454 (1998)
   PUBMED   9721216
  REMARK    GeneRIF: This paper incorrectly maps the locus to 12p13. A later
            paper by the primary authors corrects the map location to 12p11
            (PMID:10828611).
REFERENCE   8  (bases 1 to 4229)
  AUTHORS   Mertens C, Kuhn C and Franke WW.
  TITLE     Plakophilins 2a and 2b: constitutive proteins of dual location in
            the karyoplasm and the desmosomal plaque
  JOURNAL   J Cell Biol 135 (4), 1009-1025 (1996)
   PUBMED   8922383
REFERENCE   9  (bases 1 to 4229)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301690
REFERENCE   10  (bases 1 to 4229)
  AUTHORS   McNally,E., MacLeod,H. and Dellefave-Castillo,L.
  TITLE     Arrhythmogenic Right Ventricular Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301310
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC094762.1, SRR14038193.175415.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03267764
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000340811.9/ ENSP00000342800.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB454360.1, BC126199.1,
            AC087588.10 and AW439621.1.
            On Nov 29, 2019 this sequence version replaced NM_001005242.2.
            Summary: This gene encodes a member of the arm-repeat (armadillo)
            and plakophilin gene families. Plakophilin proteins contain
            numerous armadillo repeats, localize to cell desmosomes and nuclei,
            and participate in linking cadherins to intermediate filaments in
            the cytoskeleton. This gene may regulate the signaling activity of
            beta-catenin and is required to maintain transcription of genes
            that control intracellular calcium cycling including ryanodine
            receptor 2, ankyrin-B, triadin, and calcium channel,
            voltage-dependent, L type, alpha 1C. Mutations in this gene are
            associated with different inherited cardiac conditions including
            Arrythmogenic Cardiomyopathy, Brugada Syndrome, and Idiopathic
            Ventricular Fibrillation. A processed pseudogene with high
            similarity to this gene has been mapped to chromosome 12p13.
            [provided by RefSeq, May 2022].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4229
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     gene            1..4229
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /note="plakophilin 2"
                     /db_xref="GeneID:5318"
                     /db_xref="HGNC:HGNC:9024"
                     /db_xref="MIM:602861"
     CDS             47..2560
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /note="isoform 2a is encoded by transcript variant 2a"
                     /codon_start=1
                     /product="plakophilin-2 isoform 2a"
                     /protein_id="NP_001005242.2"
                     /db_xref="CCDS:CCDS31771.1"
                     /db_xref="GeneID:5318"
                     /db_xref="HGNC:HGNC:9024"
                     /db_xref="MIM:602861"
                     /translation="MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSSG
                     RGGQTVKSLRIQEQVQQTLARKGRSSVGNGNLHRTSSVPEYVYNLHLVENDFVGGRSPV
                     PKTYDMLKAGTTATYEGRWGRGTAQYSSQKSVEERSLRHPLRRLEISPDSSPERAHYTH
                     SDYQYSQRSQAGHTLHHQESRRAALLVPPRYARSEIVGVSRAGTTSRQRHFDTYHRQYQ
                     HGSVSDTVFDSIPANPALLTYPRPGTSRSMGNLLEKENYLTAGLTVGQVRPLVPLQPVT
                     QNRASRSSWHQSSFHSTRTLREAGPSVAVDSSGRRAHLTVGQAAAGGSGNLLTERSTFT
                     DSQLGNADMEMTLERAVSMLEADHMLPSRISAAATFIQHECFQKSEARKRVNQLRGILK
                     LLQLLKVQNEDVQRAVCGALRNLVFEDNDNKLEVAELNGVPRLLQVLKQTRDLETKKQI
                     TGLLWNLSSNDKLKNLMITEALLTLTENIIIPFSGWPEGDYPKANGLLDFDIFYNVTGC
                     LRNMSSAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPDDKATENCVCILHNLSYQLEA
                     ELPEKYSQNIYIQNRNIQTDNNKSIGCFGSRSRKVKEQYQDVPMPEEKSNPKGVEWLWH
                     SIVIRMYLSLIAKSVRNYTQEASLGALQNLTAGSGPMPTSVAQTVVQKESGLQHTRKML
                     HVGDPSVKKTAISLLRNLSRNLSLQNEIAKETLPDLVSIIPDTVPSTDLLIETTASACY
                     TLNNIIQNSYQNARDLLNTGGIQKIMAISAGDAYASNKASKAASVLLYSLWAHTELHHA
                     YKKAQFKKTDFVNSRTAKAYHSLKD"
     regulatory      4199..4204
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /note="hexamer: AATAAA"
     polyA_site      4229
                     /gene="PKP2"
                     /gene_synonym="ARVD9"
                     /note="major polyA site"
ORIGIN
        1 gcgagtccag aggcaggcga gcagctcggt cgcccccacc ggccccatgg cagcccccgg
       61 cgccccagct gagtacggct acatccggac cgtcctgggc cagcagatcc tgggacaact
      121 ggacagctcc agcctggcgc tgccctccga ggccaagctg aagctggcgg ggagcagcgg
      181 ccgcggcggc cagacagtca agagcctgcg gatccaggag caggtgcagc agaccctcgc
      241 ccggaagggc cgcagctccg tgggcaacgg aaatcttcac cgaaccagca gtgttcctga
      301 gtatgtctac aacctacact tggttgaaaa tgattttgtt ggaggccgtt cccctgttcc
      361 taaaacctat gacatgctaa aggctggcac aactgccact tatgaaggtc gctggggaag
      421 aggaacagca cagtacagct cccagaagtc cgtggaagaa aggtccttga ggcatcctct
      481 gaggagactg gagatttctc ctgacagcag cccggagagg gctcactaca cgcacagcga
      541 ttaccagtac agccagagaa gccaggctgg gcacaccctg caccaccaag aaagcaggcg
      601 ggccgccctc ctagtgccac cgagatatgc tcgttccgag atcgtggggg tcagccgtgc
      661 tggcaccaca agcaggcagc gccactttga cacataccac agacagtacc agcatggctc
      721 tgttagcgac accgtttttg acagcatccc tgccaacccg gccctgctca cgtaccccag
      781 gccagggacc agccgcagca tgggcaacct cttggagaag gagaactacc tgacggcagg
      841 gctcactgtc gggcaggtca ggccgctggt gcccctgcag cccgtcactc agaacagggc
      901 ttccaggtcc tcctggcatc agagctcctt ccacagcacc cgcacgctga gggaagctgg
      961 gcccagtgtc gccgtggatt ccagcgggag gagagcgcac ttgactgtcg gccaggcggc
     1021 cgcaggggga agtgggaatc tgctcactga gagaagcact ttcactgact cccagctggg
     1081 gaatgcagac atggagatga ctctggagcg agcagtgagt atgctcgagg cagaccacat
     1141 gctgccatcc aggatttctg ctgcagctac tttcatacag cacgagtgct tccagaaatc
     1201 tgaagctcgg aagagggtta accagcttcg tggcatcctc aagcttctgc agctcctaaa
     1261 agttcagaat gaagacgttc agcgagctgt gtgtggggcc ttgagaaact tagtatttga
     1321 agacaatgac aacaaattgg aggtggctga actaaatggg gtacctcggc tgctccaggt
     1381 gctgaagcaa accagagact tggagactaa aaaacaaata acaggtttgc tgtggaattt
     1441 gtcatctaat gacaaactca agaatctcat gataacagaa gcattgctta cgctgacgga
     1501 gaatatcatc atcccctttt ctgggtggcc tgaaggagac tacccaaaag caaatggttt
     1561 gctcgatttt gacatattct acaacgtcac tggatgccta agaaacatga gttctgctgg
     1621 cgctgatggg agaaaagcga tgagaagatg tgacggactc attgactcac tggtccatta
     1681 tgtcagagga accattgcag attaccagcc agatgacaag gccacggaga attgtgtgtg
     1741 cattcttcat aacctctcct accagctgga ggcagagctc ccagagaaat attcccagaa
     1801 tatctatatt caaaaccgga atatccagac tgacaacaac aaaagtattg gatgttttgg
     1861 cagtcgaagc aggaaagtaa aagagcaata ccaggacgtg ccgatgccgg aggaaaagag
     1921 caaccccaag ggcgtggagt ggctgtggca ttccattgtt ataaggatgt atctgtcctt
     1981 gatcgccaaa agtgtccgca actacacaca agaagcatcc ttaggagctc tgcagaacct
     2041 cacggccgga agtggaccaa tgccgacatc agtggctcag acagttgtcc agaaggaaag
     2101 tggcctgcag cacacccgaa agatgctgca tgttggtgac ccaagtgtga aaaagacagc
     2161 catctcgctg ctgaggaatc tgtcccggaa tctttctctg cagaatgaaa ttgccaaaga
     2221 aactctccct gatttggttt ccatcattcc tgacacagtc ccgagtactg accttctcat
     2281 tgaaactaca gcctctgcct gttacacatt gaacaacata atccaaaaca gttaccagaa
     2341 tgcacgcgac cttctaaaca ccgggggcat ccagaaaatt atggccatta gtgcaggcga
     2401 tgcctatgcc tccaacaaag caagtaaagc tgcttccgtc cttctgtatt ctctgtgggc
     2461 acacacggaa ctgcatcatg cctacaagaa ggctcagttt aagaagacag attttgtcaa
     2521 cagccggact gccaaagcct accactccct taaagactga ggaaaatgac aaagtattct
     2581 cggctgcaaa aatccccaaa ggaaaacacc tatttttcta ctacccagcc caagaaacct
     2641 caaaagcatg ccttgtttct atccttctct atttccgtgg tcccctgaat ccagaaaaca
     2701 aatagaacat aattttatga gtcttccaga agacctttgc aagtttgcca ccagtagata
     2761 ccggccacag gctcgacaaa tagtggtctt tgttattagg gcttatggta catggcttcc
     2821 tggaatcaaa atgtgaattc atgtggaagg gacattaatc caataaataa ggaaagaagc
     2881 tgttgcatta ctgggatttt aaaagtttga tttacattta tattcctttt ctggttccca
     2941 tgttttgtca ctcatgtgca cattgcttcg ccattgggcc tccagtgtat tgttctgcag
     3001 tgttgaaaca gaatggaaat gacaagaaat atctgcagtt atccaggaga aagtataatg
     3061 gcaaaattat tggtttcttt ctttactttg tgcttgtttt tatccccttg ggttgttttt
     3121 ctctgatttt taaataaact taagaaattt agattacaga gtatgcatga ctgtaagaaa
     3181 aagaaattga gaggaagtga tcatagcaaa ttaaagaagt cttttcctcc cagaacttaa
     3241 agtaaaataa aaaataaata aataaataaa atcttttcca cagagaaagg caactgtgat
     3301 gataaaattt aacgttcccc caaacactga gtcaatgaga tttttctcag gagatacttt
     3361 acctataaca acgccgttaa atccaaatct cttctaaacg atggcattct atgtaatgcc
     3421 tttcctggac ttttttggcc actgccctgg actagtgaaa gaatggactc tatctttatc
     3481 tgcaagagga actaaggcct tctctcagac tgcctggcca gcctggggca ctgaaaatac
     3541 ggctcatgtt aatgagttac attatcagcc agcccagcct tgcccaccat ttaagaaata
     3601 tcacagagcc actagatctc atatgatctt cttcaagcca ttattttaac tcaagaaaac
     3661 tctagagaag aaaagtgaag aagtcatgtt gaagaagatg taagaatgtg tcaagaccat
     3721 ccagaaatga tatgagaaat actgatattt taaatggttg acatcatcca gcgaaatgaa
     3781 tctacattaa atgttgtttt aactgcgcta tgattaaaac cattcatata gagttagtct
     3841 ttacaactac tattctgtta tttttttttt taatctgaca acatttgtcc taagtaagat
     3901 aagcaaaaaa attcttcaac tccttttggc aagaaaactg taacagaaaa taaattttga
     3961 atgtgtactt aagtctttat tatatttgaa gcaatttttt ttcaatttta aaagctgaat
     4021 gaagacaact taggttgcta acctagttca aaatgaaatt atttagatac caatttttaa
     4081 aatactggag agaatttata tgtctttttc cagagttctg atgataagca tttggagtgc
     4141 atttattcct ccagataata aatgtgtgtt cagaactttt tgtgtttttt aaggcattaa
     4201 taaagccttc gataatatta aatacaaaa
//
LOCUS       NM_001005243            3120 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 9 subfamily K member 2
            (OR9K2), mRNA.
ACCESSION   NM_001005243
VERSION     NM_001005243.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3120)
  AUTHORS   Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and
            Mollon JD.
  TITLE     Variants in the 1q21 risk region are associated with a visual
            endophenotype of autism and schizophrenia
  JOURNAL   Genes Brain Behav 13 (2), 144-151 (2014)
   PUBMED   24152035
REFERENCE   2  (bases 1 to 3120)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000641329.1/ ENSP00000493006.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC027287.21.
            On Aug 13, 2020 this sequence version replaced NM_001005243.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3120
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..3120
                     /gene="OR9K2"
                     /gene_synonym="OR12-2"
                     /note="olfactory receptor family 9 subfamily K member 2"
                     /db_xref="GeneID:441639"
                     /db_xref="HGNC:HGNC:15339"
     misc_feature    172..174
                     /gene="OR9K2"
                     /gene_synonym="OR12-2"
                     /note="upstream in-frame stop codon"
     CDS             205..1146
                     /gene="OR9K2"
                     /gene_synonym="OR12-2"
                     /note="olfactory receptor OR12-2"
                     /codon_start=1
                     /product="olfactory receptor 9K2"
                     /protein_id="NP_001005243.2"
                     /db_xref="CCDS:CCDS31814.2"
                     /db_xref="GeneID:441639"
                     /db_xref="HGNC:HGNC:15339"
                     /translation="MGDRGTSNHSEMTDFILAGFRVRPELHILLFLLFLFVYAMILLGN
                     VGMMTIIMTDPRLNTPMYFFLGNLSFIDLFYSSVIEPKAMINFWSENKSISFAGCVAQL
                     FLFALLIVTEGFLLAAMAYDRFIAICNPLLYSVQMSTRLCTQLVAGSYFCGCISSVIQT
                     SMTFTLSFCASRAVDHFYCDSRPLQRLSCSDLFIHRMISFSLSCIIILPTIIVIIVSYM
                     YIVSTVLKIHSTEGHKKAFSTCSSHLGVVSVLYGAVFFMYLTPDRFPELSKVASLCYSL
                     VTPMLNPLIYSLRNKDVQEALKKFLEKKNIIL"
ORIGIN
        1 agagctcagg acctctactt gcatatccat ggcaatctat cctcttgcct tgaaagcata
       61 caagtttctg agaattcagg atagataata tcttgtggat tgattcctca gaattaaaac
      121 aataaacaga ggaaaacatt ggaactctgc tgattgattt ttaccagaat ctgaccagtt
      181 actaaacaat acaaggtttc taccatgggt gacaggggaa caagcaatca ctcagaaatg
      241 actgacttca ttcttgcagg cttcagggta cgcccagagc tccacattct cctcttcctg
      301 ctatttttgt ttgtttatgc catgatcctt ctagggaatg ttgggatgat gaccattatt
      361 atgactgatc ctcggctgaa cacaccaatg tattttttcc taggcaatct ctccttcatt
      421 gatcttttct attcatctgt tattgaaccc aaggctatga tcaacttctg gtctgaaaac
      481 aagtctatct cctttgcagg ctgtgtggcc cagctctttc tctttgccct cctcattgtg
      541 actgagggat ttctcctggc ggccatggct tatgaccgct ttattgccat ctgcaaccct
      601 ctgctctact ctgttcaaat gtccacacgt ctgtgtactc agttggtggc tggttcctat
      661 ttttgtggct gcattagctc agttattcag actagcatga catttacttt atctttttgc
      721 gcttctcggg ctgttgacca cttttactgt gattctcgcc cacttcagag actgtcttgt
      781 tctgatctct ttatccatag aatgatatct ttttccttat catgtattat tatcttgcct
      841 actatcatag tcattatagt atcttacatg tatattgtgt ccacagttct aaagatacat
      901 tctactgagg gacataagaa ggccttctcc acctgcagct ctcacctggg agttgtgagt
      961 gtgctgtatg gtgctgtctt ttttatgtat ctcactcctg acagatttcc tgagctgagt
     1021 aaagtggcat ccttatgtta ctccctagtc actcccatgt tgaatccttt gatttactct
     1081 ctgaggaaca aagatgtcca agaggctcta aaaaaatttc tagagaagaa aaatattatt
     1141 ctttgattat tatttctctt tcaccaattt tattgtggct atttatttaa tacacctgtg
     1201 ttcattaata aaagttactc tcccgaatgt cataaaaata ctcttagatg ttttcatgtg
     1261 atgtgctctt tccatatttt acttttttac ctcccaagac atcattaatt ctgaaaatct
     1321 tggatattgg agatatcctg gacattagag aagtattttc atgataaacc ctctcactgg
     1381 tcttcaacat tttatttcac agaatttata tctattgatt cttgtggcat aatgtagaac
     1441 aatattttgt attttgttat agtgcttcag caagatttta tctggtgttt gtctttggga
     1501 ttgcccatcc ctcctacaca caatcatggg tagttgacaa agatgcccag attattttta
     1561 aataaaatat gtctttaatt ttatagctag tttcattagc atgctaaatg agtattcagt
     1621 tttcacctta tgtgtgctag ataggaagta ctaataataa gaaacaaact ataagtaatc
     1681 tttatacatt aatttggaaa atgttgtact tcattattgt ggagtgctct aaggtactgc
     1741 tagttgctga atcccagtgc aaagaactaa aataggaaat agagatcttc aaacattttg
     1801 atcaatcatg ccctcaattt tgatcttcat gattttgtct tgtgttaata attgataagg
     1861 aatagttaat aaaggtatag aatcagggaa gtcatcaaaa cggattatga tccaaaattt
     1921 acttatctat gcctcttaat ataggtatat atttgattaa tcttattgaa tatctgtata
     1981 atatgttctg gccttacagt gggctcaggg ataaataacc tcattctttt gaaagtttaa
     2041 aagttagtga gatactgaaa tccttgggca taaaaccaaa atccagacat tttgccaaag
     2101 gtactcatag agatcacaaa gtggggtgcc tgaaagaagg tggttggtaa tcagagaaac
     2161 ccttcttggg ctgcatggaa cattgcgcaa agggggatta gattgaagtc aggaaacctg
     2221 ctgcagtggt ttataatatt gatgtgggct caatggtatg tcgatattaa tgaacaaagg
     2281 cagatttttt aaactgcagg taaaagaccc aaaatatatt aactgactag tatgaagaga
     2341 atgtacaaaa gatggtatgt tagcccattt ttgaaattga gtgtgtgcat ggtcatggtc
     2401 tgaatagata aaaagtatag gagctctcag aaaacctgaa ataaaggggg aactttcttg
     2461 ccttgatgaa catgtatgaa aaacctacag tgaacatttt aaatgacaag aaactagaag
     2521 ctttcctact attatcagga aaaatgcaag gatgccttct ctcaccacac cttttcaata
     2581 ttttaatgga agtgctagcc aatgcaacaa aatgagaaaa ggaaataaaa gtgttatggg
     2641 ttgaatggta ttccctcaaa attcatgtgt tgaagcccta aaccctagta cttcagaatg
     2701 tgactttaat tagtgatagg gtcttcaaag atgtaattga gttaaaataa ggctgtaaga
     2761 taaatcctaa ttcagtatca tttgtgtccc tatagaaaga ggagattagg gcacacagag
     2821 ggacaccagg ggtgcatgtg cacagaacat cagtcatgtg aagaatcaac aagagggcag
     2881 ccatctgcaa gctaaggaaa gagggctcag agaaaaccaa ctctgctgac accttgatct
     2941 tgggcttcca gcctctatca ctaagaaaat taatttctgt tgtttaagaa cccagtgtgt
     3001 ggtgttttgt tatgggatct ccagcaaatt catacaaata ggtctataaa ttggaaaaga
     3061 agagaaaacg ttccttgttt gcagataaca tatctatgta gaaaattaaa aataataaac
//
LOCUS       NM_001005245             918 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily M member 11
            (OR5M11), mRNA.
ACCESSION   NM_001005245
VERSION     NM_001005245.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 918)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 918)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000528616.5/ ENSP00000432417.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP002517.3.
            On Sep 24, 2004 this sequence version replaced XM_497294.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..918
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..918
                     /gene="OR5M11"
                     /gene_synonym="OR11-199"
                     /note="olfactory receptor family 5 subfamily M member 11"
                     /db_xref="GeneID:219487"
                     /db_xref="HGNC:HGNC:15291"
     CDS             1..918
                     /gene="OR5M11"
                     /gene_synonym="OR11-199"
                     /note="olfactory receptor OR11-199 pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 5M11"
                     /protein_id="NP_001005245.1"
                     /db_xref="CCDS:CCDS53629.1"
                     /db_xref="GeneID:219487"
                     /db_xref="HGNC:HGNC:15291"
                     /translation="MSNTNGSAITEFILLGLTDCPELQSLLFVLFLVVYLVTLLGNLGM
                     IMLMRLDSRLHTPMYFFLTNLAFVDLCYTSNATPQMSTNIVSEKTISFAGCFTQCYIFI
                     ALLLTEFYMLAAMAYDRYVAIYDPLRYSVKTSRRVCICLATFPYVYGFSDGLFQAILTF
                     RLTFCRSSVINHFYCADPPLIKLSCSDTYVKEHAMFISAGFNLSSSLTIVLVSYAFILA
                     AILRIKSAEGRHKAFSTCGSHMMAVTLFYGTLFCMYIRPPTDKTVEESKIIAVFYTFVS
                     PVLNPLIYSLRNKDVKQALKNVLR"
     misc_feature    13..15
                     /gene="OR5M11"
                     /gene_synonym="OR11-199"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96RB7.2); glycosylation site"
     misc_feature    76..138
                     /gene="OR5M11"
                     /gene_synonym="OR11-199"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RB7.2);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR5M11"
                     /gene_synonym="OR11-199"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RB7.2);
                     transmembrane region"
     misc_feature    295..357
                     /gene="OR5M11"
                     /gene_synonym="OR11-199"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RB7.2);
                     transmembrane region"
     misc_feature    415..477
                     /gene="OR5M11"
                     /gene_synonym="OR11-199"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RB7.2);
                     transmembrane region"
     misc_feature    586..648
                     /gene="OR5M11"
                     /gene_synonym="OR11-199"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RB7.2);
                     transmembrane region"
     misc_feature    709..771
                     /gene="OR5M11"
                     /gene_synonym="OR11-199"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RB7.2);
                     transmembrane region"
     misc_feature    811..873
                     /gene="OR5M11"
                     /gene_synonym="OR11-199"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RB7.2);
                     transmembrane region"
ORIGIN
        1 atgtccaaca caaatggcag tgcaatcaca gaattcattt tacttgggct cacagattgc
       61 ccggaactcc agtctctgct ttttgtgctg tttctggttg tttacctcgt caccctgcta
      121 ggcaacctgg gcatgataat gttaatgaga ctggactctc gccttcacac gcccatgtac
      181 ttcttcctca ctaacttagc ctttgtggat ttgtgctata catcaaatgc aaccccgcag
      241 atgtcgacta atatcgtatc tgagaagacc atttcctttg ctggttgctt tacacagtgc
      301 tacattttca ttgcccttct actcactgag ttttacatgc tggcagcaat ggcctatgac
      361 cgctatgtgg ccatatatga ccctctgcgc tacagtgtga aaacgtccag gagagtttgc
      421 atctgcttgg ccacatttcc ctatgtctat ggcttctcag atggactctt ccaggccatc
      481 ctgaccttcc gcctgacctt ctgtagatcc agtgtcatca accacttcta ctgtgctgac
      541 ccgccgctca ttaagctttc ttgttctgat acttatgtca aagagcatgc catgttcata
      601 tctgctggct tcaacctctc cagctccctc accatcgtct tggtgtccta tgccttcatt
      661 cttgctgcca tcctccggat caaatcagca gagggaaggc acaaggcatt ctccacctgt
      721 ggttcccata tgatggctgt caccctgttt tatgggactc tcttttgcat gtatataaga
      781 ccaccaacag ataagactgt tgaggaatct aaaataatag ctgtctttta cacctttgtg
      841 agtccggtac ttaatccatt gatctacagt ctgaggaata aagatgtgaa gcaggccttg
      901 aagaatgtcc tgagatga
//
LOCUS       NM_001005270            1063 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily C member 12
            (OR4C12), mRNA.
ACCESSION   NM_001005270
VERSION     NM_001005270.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1063)
  AUTHORS   Miller S, Rogers HA, Lyon P, Rand V, Adamowicz-Brice M, Clifford SC,
            Hayden JT, Dyer S, Pfister S, Korshunov A, Brundler MA, Lowe J,
            Coyle B and Grundy RG.
  TITLE     Genome-wide molecular characterization of central nervous system
            primitive neuroectodermal tumor and pineoblastoma
  JOURNAL   Neuro Oncol 13 (8), 866-879 (2011)
   PUBMED   21798848
REFERENCE   2  (bases 1 to 1063)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 1063)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136850.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000335238.4/ ENSP00000334418.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC110057.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 15, 2014 this sequence version replaced NM_001005270.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1063
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.12"
     gene            1..1063
                     /gene="OR4C12"
                     /gene_synonym="OR11-259"
                     /note="olfactory receptor family 4 subfamily C member 12"
                     /db_xref="GeneID:283093"
                     /db_xref="HGNC:HGNC:15168"
     misc_feature    32..34
                     /gene="OR4C12"
                     /gene_synonym="OR11-259"
                     /note="upstream in-frame stop codon"
     CDS             35..964
                     /gene="OR4C12"
                     /gene_synonym="OR11-259"
                     /note="olfactory receptor OR11-259; seven transmembrane
                     helix receptor"
                     /codon_start=1
                     /product="olfactory receptor 4C12"
                     /protein_id="NP_001005270.3"
                     /db_xref="CCDS:CCDS31496.1"
                     /db_xref="GeneID:283093"
                     /db_xref="HGNC:HGNC:15168"
                     /translation="MEKKKNVTEFILIGLTQNPIMEKVTFVVFLVLYMITLSGNLLIVV
                     TITTSQALSSPMYFFLTHLSLIDTVYSSSSAPKLIVDSFQEKKIISFNGCMAQAYAEHI
                     FGATEIILLTVMACDCYVAICKPLNYTTIMSHSLCILLVAVAWVGGFLHATIQILFTVW
                     LPFCGPNVIGHFMCDLYPLLKLVCIDTHTLGLFVAVNSGFICLLNFLILVVSYVIILRS
                     LKNNSLEGRCKALSTCISHIIVVVLFFVPCIFVYLRSVTTLPIDKAVAVFYTMVVPMLN
                     PVVYTLRNAEVKSAIRKLWRKKVTSDND"
     misc_feature    50..52
                     /gene="OR4C12"
                     /gene_synonym="OR11-259"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96R67.2); glycosylation site"
     misc_feature    104..175
                     /gene="OR4C12"
                     /gene_synonym="OR11-259"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R67.2);
                     transmembrane region"
     misc_feature    200..265
                     /gene="OR4C12"
                     /gene_synonym="OR11-259"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R67.2);
                     transmembrane region"
     misc_feature    329..388
                     /gene="OR4C12"
                     /gene_synonym="OR11-259"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R67.2);
                     transmembrane region"
     misc_feature    446..502
                     /gene="OR4C12"
                     /gene_synonym="OR11-259"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R67.2);
                     transmembrane region"
     misc_feature    614..685
                     /gene="OR4C12"
                     /gene_synonym="OR11-259"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R67.2);
                     transmembrane region"
     misc_feature    734..802
                     /gene="OR4C12"
                     /gene_synonym="OR11-259"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R67.2);
                     transmembrane region"
     misc_feature    836..895
                     /gene="OR4C12"
                     /gene_synonym="OR11-259"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R67.2);
                     transmembrane region"
ORIGIN
        1 ccttcctgga ggttttatca cccacactac atagatggag aagaaaaaga atgtgactga
       61 attcatttta ataggtctta cacagaaccc cataatggag aaagtcacgt ttgtagtatt
      121 tttggttctt tacatgataa cactttcagg caacctgctc attgtggtta ccattaccac
      181 cagccaggct ctgagctccc ccatgtactt cttcctgacc cacctttctt tgatagacac
      241 agtttattct tcttcttcag ctcctaagtt gattgtggat tcctttcaag agaagaaaat
      301 catctccttt aatgggtgta tggctcaagc ctatgcagaa cacatttttg gtgctactga
      361 gatcatcctg ctgacagtga tggcctgtga ctgctatgtg gccatctgca aacctctgaa
      421 ctacacaacc attatgagcc acagcctgtg cattctcctg gtggcagtgg cctgggtggg
      481 aggatttctt catgcaacta ttcagattct ctttacagta tggctgccct tctgtggccc
      541 caatgtcata ggccacttca tgtgtgactt gtacccattg ttaaaacttg tttgcataga
      601 cactcatacc cttggtctct ttgttgctgt gaacagtggg tttatctgct tattaaactt
      661 ccttatcttg gtggtatcct atgtgatcat cttgagatct ttaaagaaca atagcttgga
      721 ggggaggtgt aaagccctct ccacctgtat ttctcacatc atagtagttg tcttattctt
      781 tgtgccctgt atatttgtgt atctgcgctc agtgaccact ctgcccattg ataaagctgt
      841 tgctgtattt tatactatgg tggtcccaat gttaaatccc gtggtctaca cactcagaaa
      901 tgctgaggta aaaagtgcaa taaggaagct ttggagaaaa aaagtgactt cagataatga
      961 ttaaataaga ccattgagca ctcaacatag aggtaatagg tatttaagct tcttgatttg
     1021 tagatgaata tgtcaactct aacaaggggc tggctaatgc ttg
//
LOCUS       NM_001005272            1071 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily A member 5
            (OR4A5), mRNA.
ACCESSION   NM_001005272
VERSION     NM_001005272.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1071)
  AUTHORS   Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN,
            Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S,
            Ferreira T, Wood AR, Weyant RJ, Segre AV, Speliotes EK, Wheeler E,
            Soranzo N, Park JH, Yang J, Gudbjartsson D, Heard-Costa NL, Randall
            JC, Qi L, Vernon Smith A, Magi R, Pastinen T, Liang L, Heid IM, Luan
            J, Thorleifsson G, Winkler TW, Goddard ME, Sin Lo K, Palmer C,
            Workalemahu T, Aulchenko YS, Johansson A, Zillikens MC, Feitosa MF,
            Esko T, Johnson T, Ketkar S, Kraft P, Mangino M, Prokopenko I,
            Absher D, Albrecht E, Ernst F, Glazer NL, Hayward C, Hottenga JJ,
            Jacobs KB, Knowles JW, Kutalik Z, Monda KL, Polasek O, Preuss M,
            Rayner NW, Robertson NR, Steinthorsdottir V, Tyrer JP, Voight BF,
            Wiklund F, Xu J, Zhao JH, Nyholt DR, Pellikka N, Perola M, Perry JR,
            Surakka I, Tammesoo ML, Altmaier EL, Amin N, Aspelund T, Bhangale T,
            Boucher G, Chasman DI, Chen C, Coin L, Cooper MN, Dixon AL, Gibson
            Q, Grundberg E, Hao K, Juhani Junttila M, Kaplan LM, Kettunen J,
            Konig IR, Kwan T, Lawrence RW, Levinson DF, Lorentzon M, McKnight B,
            Morris AP, Muller M, Suh Ngwa J, Purcell S, Rafelt S, Salem RM,
            Salvi E, Sanna S, Shi J, Sovio U, Thompson JR, Turchin MC, Vandenput
            L, Verlaan DJ, Vitart V, White CC, Ziegler A, Almgren P, Balmforth
            AJ, Campbell H, Citterio L, De Grandi A, Dominiczak A, Duan J,
            Elliott P, Elosua R, Eriksson JG, Freimer NB, Geus EJ, Glorioso N,
            Haiqing S, Hartikainen AL, Havulinna AS, Hicks AA, Hui J, Igl W,
            Illig T, Jula A, Kajantie E, Kilpelainen TO, Koiranen M, Kolcic I,
            Koskinen S, Kovacs P, Laitinen J, Liu J, Lokki ML, Marusic A,
            Maschio A, Meitinger T, Mulas A, Pare G, Parker AN, Peden JF,
            Petersmann A, Pichler I, Pietilainen KH, Pouta A, Ridderstrale M,
            Rotter JI, Sambrook JG, Sanders AR, Schmidt CO, Sinisalo J, Smit JH,
            Stringham HM, Bragi Walters G, Widen E, Wild SH, Willemsen G, Zagato
            L, Zgaga L, Zitting P, Alavere H, Farrall M, McArdle WL, Nelis M,
            Peters MJ, Ripatti S, van Meurs JB, Aben KK, Ardlie KG, Beckmann JS,
            Beilby JP, Bergman RN, Bergmann S, Collins FS, Cusi D, den Heijer M,
            Eiriksdottir G, Gejman PV, Hall AS, Hamsten A, Huikuri HV, Iribarren
            C, Kahonen M, Kaprio J, Kathiresan S, Kiemeney L, Kocher T, Launer
            LJ, Lehtimaki T, Melander O, Mosley TH Jr, Musk AW, Nieminen MS,
            O'Donnell CJ, Ohlsson C, Oostra B, Palmer LJ, Raitakari O, Ridker
            PM, Rioux JD, Rissanen A, Rivolta C, Schunkert H, Shuldiner AR,
            Siscovick DS, Stumvoll M, Tonjes A, Tuomilehto J, van Ommen GJ,
            Viikari J, Heath AC, Martin NG, Montgomery GW, Province MA, Kayser
            M, Arnold AM, Atwood LD, Boerwinkle E, Chanock SJ, Deloukas P,
            Gieger C, Gronberg H, Hall P, Hattersley AT, Hengstenberg C, Hoffman
            W, Lathrop GM, Salomaa V, Schreiber S, Uda M, Waterworth D, Wright
            AF, Assimes TL, Barroso I, Hofman A, Mohlke KL, Boomsma DI,
            Caulfield MJ, Cupples LA, Erdmann J, Fox CS, Gudnason V, Gyllensten
            U, Harris TB, Hayes RB, Jarvelin MR, Mooser V, Munroe PB, Ouwehand
            WH, Penninx BW, Pramstaller PP, Quertermous T, Rudan I, Samani NJ,
            Spector TD, Volzke H, Watkins H, Wilson JF, Groop LC, Haritunians T,
            Hu FB, Kaplan RC, Metspalu A, North KE, Schlessinger D, Wareham NJ,
            Hunter DJ, O'Connell JR, Strachan DP, Wichmann HE, Borecki IB, van
            Duijn CM, Schadt EE, Thorsteinsdottir U, Peltonen L, Uitterlinden
            AG, Visscher PM, Chatterjee N, Loos RJ, Boehnke M, McCarthy MI,
            Ingelsson E, Lindgren CM, Abecasis GR, Stefansson K, Frayling TM and
            Hirschhorn JN.
  TITLE     Hundreds of variants clustered in genomic loci and biological
            pathways affect human height
  JOURNAL   Nature 467 (7317), 832-838 (2010)
   PUBMED   20881960
REFERENCE   2  (bases 1 to 1071)
  AUTHORS   Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd
            C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E,
            Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K,
            Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC,
            Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES and
            Sakaki Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
REFERENCE   3  (bases 1 to 1071)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC140750.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000319760.8/ ENSP00000367664.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC087377.7.
            On Jan 20, 2010 this sequence version replaced NM_001005272.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1071
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q11"
     gene            1..1071
                     /gene="OR4A5"
                     /gene_synonym="OR11-111"
                     /note="olfactory receptor family 4 subfamily A member 5"
                     /db_xref="GeneID:81318"
                     /db_xref="HGNC:HGNC:15162"
     misc_feature    51..53
                     /gene="OR4A5"
                     /gene_synonym="OR11-111"
                     /note="upstream in-frame stop codon"
     CDS             54..1001
                     /gene="OR4A5"
                     /gene_synonym="OR11-111"
                     /note="olfactory receptor OR11-111; seven transmembrane
                     helix receptor"
                     /codon_start=1
                     /product="olfactory receptor 4A5"
                     /protein_id="NP_001005272.3"
                     /db_xref="CCDS:CCDS73289.1"
                     /db_xref="GeneID:81318"
                     /db_xref="HGNC:HGNC:15162"
                     /translation="MRQNNNITEFVLLGFSQDPGVQKALFVMFLLTYLVTVVGNLLIVV
                     DIIASPSLGSPMYFFLACLSFIDAAYSTTISPKLIVGLFCDKKTISFQGCMGQLFIDHF
                     FGGAEVFLLVVMACDRYVAICKPLHYLTIMNRQVCFLLLVVAMIGGFVHSAFQIVVYSL
                     PFCGPNVIVHFSCDMHPLLELACTDTYFIGLTVVVNSGAICMVIFNLLLISYGVILSSL
                     KTYSQEKRGKALSTCSSGSTVVVLFFVPCIFIYVRPVSNFPTDKFMTVFYTIITHMLSP
                     LIYTLRNSEMRNAIEKLLGKKLTIFIIGGVSVLM"
     misc_feature    69..71
                     /gene="OR4A5"
                     /gene_synonym="OR11-111"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH83.4); glycosylation site"
     misc_feature    123..194
                     /gene="OR4A5"
                     /gene_synonym="OR11-111"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH83.4);
                     transmembrane region"
     misc_feature    219..284
                     /gene="OR4A5"
                     /gene_synonym="OR11-111"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH83.4);
                     transmembrane region"
     misc_feature    348..407
                     /gene="OR4A5"
                     /gene_synonym="OR11-111"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH83.4);
                     transmembrane region"
     misc_feature    465..521
                     /gene="OR4A5"
                     /gene_synonym="OR11-111"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH83.4);
                     transmembrane region"
     misc_feature    630..701
                     /gene="OR4A5"
                     /gene_synonym="OR11-111"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH83.4);
                     transmembrane region"
     misc_feature    750..818
                     /gene="OR4A5"
                     /gene_synonym="OR11-111"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH83.4);
                     transmembrane region"
     misc_feature    852..911
                     /gene="OR4A5"
                     /gene_synonym="OR11-111"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH83.4);
                     transmembrane region"
ORIGIN
        1 aggccctgtt tccctgagct ctcacctctg atacaagcct taaagaagag taaatgagac
       61 agaataacaa tattacagaa tttgtcctcc tgggcttttc tcaggatcct ggtgtgcaaa
      121 aagcattatt tgtcatgttt ttactcacat acttggtgac agtggtgggg aacctgctca
      181 ttgtggtgga tattattgcc agcccttcct tgggttcccc aatgtatttc ttccttgcct
      241 gcctgtcatt tatagatgct gcatattcca ctaccatttc tcccaagtta attgtaggct
      301 tattctgtga taaaaagact atttccttcc aaggttgcat gggccagcta tttatagacc
      361 atttctttgg tggggctgag gtcttccttc tggtggtgat ggcctgtgat cgctatgtgg
      421 ccatctgtaa gccactgcac tatttgacca tcatgaatcg acaggtttgc ttccttctgt
      481 tggtggtggc catgattgga ggttttgtac attctgcgtt tcaaattgtt gtgtacagtc
      541 tccctttctg tggtcccaat gtcattgttc atttcagttg tgacatgcac ccattactgg
      601 aactggcatg cactgacacc tactttatag gcctcactgt tgttgtcaat agtggagcaa
      661 tctgtatggt cattttcaac cttctgttaa tctcctatgg agtcatccta agctccctta
      721 aaacttacag tcaggaaaag aggggtaaag ccttgtctac ctgcagctcc ggcagtaccg
      781 ttgttgtcct cttttttgta ccctgtattt tcatatatgt tagacctgtt tcaaactttc
      841 ctactgataa gttcatgact gtgttttata ccattatcac acacatgctg agtcctttaa
      901 tatatacgtt gagaaattca gagatgagaa atgctataga aaaactcttg ggtaaaaagt
      961 taactatatt tattatagga ggagtgtccg tcctcatgta ggtaaggagg tatgtagtca
     1021 aggtcttccc agtgaagttt tcaggtttct aagggcaagt caaggatccc a
//
LOCUS       NM_001005273            7385 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3),
            transcript variant 1, mRNA.
ACCESSION   NM_001005273
VERSION     NM_001005273.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7385)
  AUTHORS   van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven
            D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM,
            Beck-Wodl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM,
            Cuturilo G, Gilissen C, Haack TB, Huning I, Husain RA, Kamien B, Lim
            SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW,
            Pais LS, Plaiasu V, Raiti L, Richmond C, Riess A, Schwaibold EMC,
            Simon MEH, Spranger S, Tan TY, Thompson ML, de Vries BBA, Wilkins
            EJ, Willemsen MH, Francks C, Vissers LELM, Fisher SE and Kleefstra
            T.
  TITLE     Inherited variants in CHD3 show variable expressivity in Snijders
            Blok-Campeau syndrome
  JOURNAL   Genet Med 24 (6), 1283-1296 (2022)
   PUBMED   35346573
  REMARK    GeneRIF: Inherited variants in CHD3 show variable expressivity in
            Snijders Blok-Campeau syndrome.
REFERENCE   2  (bases 1 to 7385)
  AUTHORS   Hoffmeister H, Fuchs A, Komives E, Groebner-Ferreira R, Strobl L,
            Nazet J, Heizinger L, Merkl R, Dove S and Langst G.
  TITLE     Sequence and functional differences in the ATPase domains of CHD3
            and SNF2H promise potential for selective regulability and
            drugability
  JOURNAL   FEBS J 288 (13), 4000-4023 (2021)
   PUBMED   33403747
  REMARK    GeneRIF: Sequence and functional differences in the ATPase domains
            of CHD3 and SNF2H promise potential for selective regulability and
            drugability.
REFERENCE   3  (bases 1 to 7385)
  AUTHORS   Spruijt CG, Grawe C, Kleinendorst SC, Baltissen MPA and Vermeulen M.
  TITLE     Cross-linking mass spectrometry reveals the structural topology of
            peripheral NuRD subunits relative to the core complex
  JOURNAL   FEBS J 288 (10), 3231-3245 (2021)
   PUBMED   33283408
REFERENCE   4  (bases 1 to 7385)
  AUTHORS   Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmuller J, Barakat
            TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM,
            Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J,
            Dieux-Coeslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB,
            Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B,
            Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez
            XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen
            KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN,
            Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M,
            Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R,
            Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P and Bhoj E.
  TITLE     A second cohort of CHD3 patients expands the molecular mechanisms
            known to cause Snijders Blok-Campeau syndrome
  JOURNAL   Eur J Hum Genet 28 (10), 1422-1431 (2020)
   PUBMED   32483341
  REMARK    GeneRIF: A second cohort of CHD3 patients expands the molecular
            mechanisms known to cause Snijders Blok-Campeau syndrome.
REFERENCE   5  (bases 1 to 7385)
  AUTHORS   Yazdani A, Yazdani A, Mendez Giraldez R, Aguilar D and Sartore L.
  TITLE     A Multi-Trait Approach Identified Genetic Variants Including a Rare
            Mutation in RGS3 with Impact on Abnormalities of Cardiac
            Structure/Function
  JOURNAL   Sci Rep 9 (1), 5845 (2019)
   PUBMED   30971721
  REMARK    GeneRIF: A Multi-Trait Approach Identified Genetic Variants
            Including a Rare Mutation in RGS3 with Impact on Abnormalities of
            Cardiac Structure/Function. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 7385)
  AUTHORS   Woodage T, Basrai MA, Baxevanis AD, Hieter P and Collins FS.
  TITLE     Characterization of the CHD family of proteins
  JOURNAL   Proc Natl Acad Sci U S A 94 (21), 11472-11477 (1997)
   PUBMED   9326634
REFERENCE   7  (bases 1 to 7385)
  AUTHORS   Seelig,H.P., Renz,M., Targoff,I.N., Ge,Q. and Frank,M.B.
  TITLE     Two forms of the major antigenic protein of the
            dermatomyositis-specific Mi-2 autoantigen
  JOURNAL   Arthritis Rheum 39 (10), 1769-1771 (1996)
   PUBMED   8843877
REFERENCE   8  (bases 1 to 7385)
  AUTHORS   Seelig HP, Moosbrugger I, Ehrfeld H, Fink T, Renz M and Genth E.
  TITLE     The major dermatomyositis-specific Mi-2 autoantigen is a presumed
            helicase involved in transcriptional activation
  JOURNAL   Arthritis Rheum 38 (10), 1389-1399 (1995)
   PUBMED   7575689
REFERENCE   9  (bases 1 to 7385)
  AUTHORS   Ge Q, Nilasena DS, O'Brien CA, Frank MB and Targoff IN.
  TITLE     Molecular analysis of a major antigenic region of the 240-kD protein
            of Mi-2 autoantigen
  JOURNAL   J Clin Invest 96 (4), 1730-1737 (1995)
   PUBMED   7560064
REFERENCE   10  (bases 1 to 7385)
  AUTHORS   Gieser L and Swaroop A.
  TITLE     Expressed sequence tags and chromosomal localization of cDNA clones
            from a subtracted retinal pigment epithelium library
  JOURNAL   Genomics 13 (3), 873-876 (1992)
   PUBMED   1639417
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U91543.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000330494.12/ ENSP00000332628.7
            RefSeq Select criteria      :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104581.22, U91543.1,
            AK125928.1 and BC110648.1.
            On Aug 31, 2019 this sequence version replaced NM_001005273.2.
            Summary: This gene encodes a member of the CHD family of proteins
            which are characterized by the presence of chromo (chromatin
            organization modifier) domains and SNF2-related helicase/ATPase
            domains. This protein is one of the components of a histone
            deacetylase complex referred to as the Mi-2/NuRD complex which
            participates in the remodeling of chromatin by deacetylating
            histones. Chromatin remodeling is essential for many processes
            including transcription. Autoantibodies against this protein are
            found in a subset of patients with dermatomyositis. Three
            alternatively spliced transcripts encoding different isoforms have
            been described. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript. Variant 1 encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7385
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..7385
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="chromodomain helicase DNA binding protein 3"
                     /db_xref="GeneID:1107"
                     /db_xref="HGNC:HGNC:1918"
                     /db_xref="MIM:602120"
     misc_feature    183..185
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="upstream in-frame stop codon"
     CDS             213..6215
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /EC_number="3.6.4.12"
                     /note="isoform 1 is encoded by transcript variant 1;
                     zinc-finger helicase (Snf2-like); hZFH; CHD-3; zinc finger
                     helicase; ATP-dependent helicase CHD3; mi-2 autoantigen 240
                     kDa protein"
                     /codon_start=1
                     /product="chromodomain-helicase-DNA-binding protein 3
                     isoform 1"
                     /protein_id="NP_001005273.1"
                     /db_xref="CCDS:CCDS32554.1"
                     /db_xref="GeneID:1107"
                     /db_xref="HGNC:HGNC:1918"
                     /db_xref="MIM:602120"
                     /translation="MKAADTVILWARSKNDQLRISFPPGLCWGDRMPDKDDIRLLPSAL
                     GVKKRKRGPKKQKENKPGKPRKRKKRDSEEEFGSERDEYREKSESGGSEYGTGPGRKRR
                     RKHREKKEKKTKRRKKGEGDGGQKQVEQKSSATLLLTWGLEDVEHVFSEEDYHTLTNYK
                     AFSQFMRPLIAKKNPKIPMSKMMTILGAKWREFSANNPFKGSAAAVAAAAAAAAAAVAE
                     QVSAAVSSATPIAPSGPPALPPPPAADIQPPPIRRAKTKEGKGPGHKRRSKSPRVPDGR
                     KKLRGKKMAPLKIKLGLLGGKRKKGGSYVFQSDEGPEPEAEESDLDSGSVHSASGRPDG
                     PVRTKKLKRGRPGRKKKKVLGCPAVAGEEEVDGYETDHQDYCEVCQQGGEIILCDTCPR
                     AYHLVCLDPELDRAPEGKWSCPHCEKEGVQWEAKEEEEEYEEEGEEEGEKEEEDDHMEY
                     CRVCKDGGELLCCDACISSYHIHCLNPPLPDIPNGEWLCPRCTCPVLKGRVQKILHWRW
                     GEPPVAVPAPQQADGNPDVPPPRPLQGRSEREFFVKWVGLSYWHCSWAKELQLEIFHLV
                     MYRNYQRKNDMDEPPPLDYGSGEDDGKSDKRKVKDPHYAEMEEKYYRFGIKPEWMTVHR
                     IINHSVDKKGNYHYLVKWRDLPYDQSTWEEDEMNIPEYEEHKQSYWRHRELIMGEDPAQ
                     PRKYKKKKKELQGDGPPSSPTNDPTVKYETQPRFITATGGTLHMYQLEGLNWLRFSWAQ
                     GTDTILADEMGLGKTIQTIVFLYSLYKEGHTKGPFLVSAPLSTIINWEREFQMWAPKFY
                     VVTYTGDKDSRAIIRENEFSFEDNAIKGGKKAFKMKREAQVKFHVLLTSYELITIDQAA
                     LGSIRWACLVVDEAHRLKNNQSKFFRVLNGYKIDHKLLLTGTPLQNNLEELFHLLNFLT
                     PERFNNLEGFLEEFADISKEDQIKKLHDLLGPHMLRRLKADVFKNMPAKTELIVRVELS
                     PMQKKYYKYILTRNFEALNSRGGGNQVSLLNIMMDLKKCCNHPYLFPVAAMESPKLPSG
                     AYEGGALIKSSGKLMLLQKMLRKLKEQGHRVLIFSQMTKMLDLLEDFLDYEGYKYERID
                     GGITGALRQEAIDRFNAPGAQQFCFLLSTRAGGLGINLATADTVIIFDSDWNPHNDIQA
                     FSRAHRIGQANKVMIYRFVTRASVEERITQVAKRKMMLTHLVVRPGLGSKAGSMSKQEL
                     DDILKFGTEELFKDENEGENKEEDSSVIHYDNEAIARLLDRNQDATEDTDVQNMNEYLS
                     SFKVAQYVVREEDKIEEIEREIIKQEENVDPDYWEKLLRHHYEQQQEDLARNLGKGKRV
                     RKQVNYNDAAQEDQDNQSEYSVGSEEEDEDFDERPEGRRQSKRQLRNEKDKPLPPLLAR
                     VGGNIEVLGFNTRQRKAFLNAVMRWGMPPQDAFTTQWLVRDLRGKTEKEFKAYVSLFMR
                     HLCEPGADGSETFADGVPREGLSRQQVLTRIGVMSLVKKKVQEFEHINGRWSMPELMPD
                     PSADSKRSSRASSPTKTSPTTPEASATNSPCTSKPATPAPSEKGEGIRTPLEKEEAENQ
                     EEKPEKNSRIGEKMETEADAPSPAPSLGERLEPRKIPLEDEVPGVPGEMEPEPGYRGDR
                     EKSATESTPGERGEEKPLDGQEHRERPEGETGDLGKREDVKGDRELRPGPRDEPRSNGR
                     REEKTEKPRFMFNIADGGFTELHTLWQNEERAAISSGKLNEIWHRRHDYWLLAGIVLHG
                     YARWQDIQNDAQFAIINEPFKTEANKGNFLEMKNKFLARRFKLLEQALVIEEQLRRAAY
                     LNLSQEPAHPAMALHARFAEAECLAESHQHLSKESLAGNKPANAVLHKVLNQLEELLSD
                     MKADVTRLPATLSRIPPIAARLQMSERSILSRLASKGTEPHPTPAYPPGPYATPPGYGA
                     AFSAAPVGALAAAGANYSQMPAGSFITAATNGPPVLVKKEKEMVGALVSDGLDRKEPRA
                     GEVICIDD"
     misc_feature    279..611
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12873.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    447..449
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q12873.3); phosphorylation site"
     misc_feature    903..1289
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12873.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1134..1136
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q14839; propagated from
                     UniProtKB/Swiss-Prot (Q12873.3); phosphorylation site"
     misc_feature    1182..1184
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q12873.3); phosphorylation site"
     misc_feature    1338..1340
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q14839; propagated from
                     UniProtKB/Swiss-Prot (Q12873.3); phosphorylation site"
     misc_feature    1503..1568
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12873.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1779..1838
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12873.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1971..2045
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12873.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2001..2003
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q12873.3); phosphorylation site"
     misc_feature    2286..2375
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12873.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2349..2351
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q12873.3);
                     phosphorylation site"
     misc_feature    2859..2870
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12873.3);
                     Region: DEAH box"
     misc_feature    3867..3869
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6PDQ2; propagated from
                     UniProtKB/Swiss-Prot (Q12873.3); phosphorylation site"
     misc_feature    4257..4409
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12873.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4311..4313
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q12873.3); phosphorylation site"
     misc_feature    4749..5333
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12873.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4806..4808
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q14839; propagated from
                     UniProtKB/Swiss-Prot (Q12873.3); phosphorylation site"
     misc_feature    4824..4826
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q14839; propagated from
                     UniProtKB/Swiss-Prot (Q12873.3); phosphorylation site"
     misc_feature    4908..6110
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12873.3);
                     Region: Required for interaction with PCNT.
                     /evidence=ECO:0000269|PubMed:17626165"
     misc_feature    5013..5015
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q12873.3);
                     phosphorylation site"
     misc_feature    5025..5027
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q12873.3);
                     phosphorylation site"
     misc_feature    5148..5150
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q12873.3); phosphorylation site"
     regulatory      6806..6811
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="hexamer: AATAAA"
     polyA_site      6834
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="major polyA site"
     regulatory      7365..7370
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="hexamer: TATAAA"
     polyA_site      7385
                     /gene="CHD3"
                     /gene_synonym="Mi-2a; Mi2-ALPHA; SNIBCPS; ZFH"
                     /note="major polyA site"
ORIGIN
        1 atatctttgt ttgggtctcc catactgcgt atagatgaat gggtcaggat atctggaaca
       61 aaatatggag gtgaagggtg agatcgggaa acaaagggta tggcccccta gttcccaaag
      121 ggagcaggga gatgggaata gaattgaagg taggttttag gctacttggg aggaggaata
      181 tttaggtaat tgtggagact ttctcctgtg tgatgaaggc ggcagacact gtgatcctgt
      241 gggcaagaag taaaaatgac cagctgagga tttcttttcc tccaggactg tgttggggtg
      301 acaggatgcc tgataaggat gacattcggc tgctgccgtc agcattgggt gtgaagaaga
      361 gaaaacgagg acccaagaag cagaaggaga acaagccagg aaaaccccga aaacgcaaga
      421 agcgtgacag tgaggaggaa tttggttctg agcgagatga gtaccgggag aagtcagaga
      481 gtgggggcag tgaatatgga accggaccgg gtcggaaacg aagaaggaag caccgagaaa
      541 aaaaggagaa gaagacaaag cggcggaaaa agggggaggg agatgggggg caaaagcaag
      601 tggaacagaa gtcatcagca actctgcttc tgacctgggg cctggaggat gtggagcatg
      661 tgttctctga ggaggattac cacacgctca ccaactacaa agccttcagc cagttcatga
      721 ggcccctaat tgctaagaag aatcctaaga tcccaatgtc taagatgatg accatccttg
      781 gggccaaatg gagagagttc agtgccaaca accccttcaa ggggtcagca gctgctgtgg
      841 cggcggcagc ggcagcagca gcagcagctg tagctgagca ggtgtcagct gctgtctcgt
      901 cggccacccc catagcaccc tccggacccc ccgcccttcc accaccccct gctgctgata
      961 tccagccccc acccatccga agagccaaaa ccaaagaggg caaaggtcca ggccataaga
     1021 ggcggagtaa gagcccccga gtgcctgatg gacgcaagaa gcttcgggga aagaaaatgg
     1081 caccactcaa aataaaacta gggcttctgg gtggcaagag gaagaaagga ggctcgtatg
     1141 tttttcagag cgacgaaggt cctgaaccag aggctgagga atcagacctg gacagtggca
     1201 gtgtccacag tgcctcaggc cggcctgatg gccctgtccg caccaagaaa ctaaagagag
     1261 gccggccagg aaggaagaag aagaaggtcc tgggctgtcc tgcagtggcc ggggaggagg
     1321 aggttgatgg ctacgagacg gatcaccagg attactgtga ggtgtgccag cagggtgggg
     1381 aaattattct gtgtgacacc tgccctcgtg cctaccacct cgtctgcctt gatcctgagc
     1441 ttgaccgggc tccagagggc aaatggagct gccctcactg tgagaaggag ggggtccagt
     1501 gggaggccaa ggaggaagaa gaagaatacg aagaggaggg agaggaagaa ggggagaagg
     1561 aggaggagga tgatcacatg gagtactgcc gcgtatgcaa ggacggcggg gagctcctgt
     1621 gctgtgacgc gtgcatctcc tcctaccaca ttcattgtct aaaccctccc ctgcctgaca
     1681 ttcccaatgg tgaatggctg tgtccccgat gcacatgccc cgtgctgaag ggtcgagtgc
     1741 agaagatcct acattggcgg tggggggagc cacctgtagc agtgccagcc cctcaacagg
     1801 cagatggaaa tccagatgtc ccaccccccc gtcctcttca aggcagatca gagcgagagt
     1861 tctttgtcaa gtgggtagga ctatcctact ggcactgctc ctgggccaag gagcttcagc
     1921 tggaaatctt ccatttggtt atgtatcgaa actaccagcg gaagaatgac atggatgagc
     1981 ccccacccct ggactatggc tccggcgagg atgatgggaa gagcgacaag cgtaaagtga
     2041 aagacccgca ctatgctgag atggaggaga agtactatcg ttttggcatc aagccagagt
     2101 ggatgaccgt ccaccgcatc atcaaccaca gtgtggataa aaaggggaat taccactatc
     2161 tagtaaaatg gagggactta ccatatgacc agtccacgtg ggaggaagat gaaatgaata
     2221 tccctgaata cgaagaacat aagcaaagct actggagaca ccgagaacta attatggggg
     2281 aagaccctgc ccagccccgc aagtataaga agaagaagaa ggagctacag ggtgatgggc
     2341 ctcccagttc tcccactaat gatcctaccg tgaaatatga gactcagcca cggtttatca
     2401 cagccactgg aggcaccctg cacatgtatc agttggaagg gctgaactgg ctacgcttct
     2461 cctgggccca gggcactgac accattctag ctgatgagat ggggctaggc aagaccatac
     2521 aaaccatcgt cttcctctac tcactctaca aggagggcca cacaaaaggt cccttcctgg
     2581 tgagtgcccc actctctacc atcattaact gggagcggga gttccagatg tgggcaccca
     2641 aattctatgt ggtgacatac acgggtgaca aggacagccg ggccatcatt cgtgagaatg
     2701 aattctcctt tgaggacaat gccatcaaag ggggcaagaa agcttttaag atgaagaggg
     2761 aggcacaggt gaagttccat gttctcctga catcgtatga gctgatcacc attgatcagg
     2821 cagcacttgg ttccatccgc tgggcctgtc ttgtggtaga tgaggcccat cgactcaaga
     2881 acaaccagtc caagtttttc agggttctca atggttacaa gatagatcat aagttgctgc
     2941 tgacaggaac cccattgcag aataatctgg aggagctctt ccatctcctg aacttcctca
     3001 ccccagagag atttaacaac ttggagggct tcctggagga gtttgctgac atatccaaag
     3061 aggaccagat caagaaactg catgatttgc tggggccaca catgctgcgg agactcaagg
     3121 cagatgtctt taagaacatg ccagccaaga cagagctcat cgttcgggtg gagctaagcc
     3181 ccatgcagaa gaaatactac aaatacatcc tgactcgaaa ttttgaggcc ttgaattcac
     3241 gaggtggtgg gaaccaggtg tcgctgctta atatcatgat ggatcttaag aagtgctgca
     3301 accatccata cctttttccc gtggctgcta tggagtcccc caaactcccc agtggggctt
     3361 atgagggtgg ggcacttatt aagtcgtctg ggaagctcat gctgctccag aagatgctgc
     3421 gaaagctgaa ggagcaagga caccgagtgc tcatcttctc gcagatgacc aaaatgttag
     3481 acttgcttga ggacttctta gactatgaag gctacaagta tgagcgcatc gatggtggta
     3541 tcacgggtgc cctgaggcag gaggccatcg atcggtttaa tgctcctggg gcccaacaat
     3601 tctgcttcct cctgtccacc cgagctgggg gcctgggcat caatctggcc actgctgaca
     3661 ctgtcatcat ctttgattct gactggaacc cccataatga catccaggcc tttagccggg
     3721 ctcatcggat tggccaggcc aacaaagtga tgatttaccg gtttgtgact cgcgcgtcag
     3781 tggaagagcg aatcacacaa gtggccaaga gaaagatgat gctgacacac ctggttgtgc
     3841 ggcctgggct gggctccaag gcaggctcca tgtccaagca ggagcttgac gacattctca
     3901 aatttggcac tgaagagcta ttcaaggatg aaaacgaggg ggagaacaag gaggaggaca
     3961 gcagtgtgat tcattatgac aatgaggcca tcgctcggct gttggaccgg aaccaggatg
     4021 caactgagga cactgacgtg cagaacatga atgagtatct cagctccttc aaggtggcac
     4081 agtacgtcgt gcgggaagaa gacaagattg aggaaattga gcgagagatc atcaagcagg
     4141 aggagaatgt ggaccctgac tactgggaga agctgctgag gcatcactat gagcaacagc
     4201 aggaagacct agcccggaat ctaggcaagg gcaagcgggt tcgcaagcaa gttaactaca
     4261 atgatgctgc tcaggaagac caagacaacc agtcagagta ctcggtgggt tcagaggagg
     4321 aggatgaaga cttcgatgaa cgtcctgaag ggcgtagaca gtcaaagagg cagctccgga
     4381 atgagaaaga taagccactg cctccactgc tggcccgagt cgggggcaac attgaggtgc
     4441 tgggcttcaa cacccgtcag cggaaggctt tcctcaatgc tgtgatgcgc tgggggatgc
     4501 caccacagga tgccttcacc acacagtggc tggtgcggga cctgaggggc aagactgaga
     4561 aggagtttaa ggcctatgtg tctttgttca tgcgccatct gtgtgagcct ggggcagacg
     4621 gctctgaaac ctttgccgat ggggtccctc gggagggact gagtcgccag caggtgttga
     4681 cccgcattgg agtcatgtct ctcgtcaaaa agaaggtgca ggagtttgag cacatcaatg
     4741 ggcgttggtc aatgccggaa ctgatgcctg accccagcgc cgattctaag cgctcctcca
     4801 gagcctcctc tcctaccaaa acgtctccca ccactcctga ggcttctgct accaacagtc
     4861 cctgcacctc taaacctgct actccagctc caagtgagaa aggagaaggc ataaggacac
     4921 ctcttgagaa ggaggaagct gaaaaccagg aggaaaagcc agagaagaac agcagaattg
     4981 gggagaagat ggagacagag gctgatgccc ccagcccagc cccatcactt ggggagcggc
     5041 tggagccaag gaagattcct ctagaggatg aggtgccagg ggtgcctgga gagatggagc
     5101 ctgaacctgg gtaccgtggg gacagagaga agtcagccac agagtcgacg ccaggagaaa
     5161 ggggggagga gaagccgttg gatggacagg aacacaggga gaggccggag ggggaaacag
     5221 gggatttggg caagagagaa gatgtaaaag gtgaccggga gcttcgacca gggcctcgag
     5281 atgagccacg gtccaatggg cgacgagagg aaaagacaga gaagccccgg ttcatgttca
     5341 atatcgccga tggtggcttc acagagcttc acacactgtg gcagaatgag gaacgggcag
     5401 ctatttcctc ggggaaactc aatgagatct ggcacagaag acatgactat tggcttctgg
     5461 ctgggattgt cctccatggc tatgcacggt ggcaggacat ccagaatgat gctcaatttg
     5521 ccattatcaa cgagccattt aaaactgaag ccaataaggg gaactttctg gagatgaaaa
     5581 ataagttcct ggcccggagg ttcaagctcc tggagcaggc gctggtgatt gaggagcagc
     5641 tgcggcgggc ggcctacctg aacctgtcgc aggagccggc gcaccccgcc atggccctcc
     5701 acgcccgctt cgccgaggcc gagtgcctgg ccgagagcca ccagcacctc tccaaggagt
     5761 cgctggcggg gaacaagccg gccaacgccg tcctgcacaa ggttctgaac cagctggagg
     5821 agttgctgag cgacatgaag gcggacgtga cccgcctgcc agccacgctg tcccgaatac
     5881 cccccatcgc agcccgcctt cagatgtccg agcgcagcat cctcagccgg ctggccagca
     5941 agggcacgga gcctcacccc acaccggcct acccgccggg tccctacgct acacctccgg
     6001 ggtacggggc ggccttcagc gccgcacccg taggggccct ggccgccgca ggcgccaatt
     6061 acagccagat gcctgcaggg tccttcatca cagccgccac caacggccct ccagtgcttg
     6121 tgaagaagga gaaggaaatg gtgggggcat tggtgtcaga cgggctggat cggaaggagc
     6181 cccgagccgg ggaggtgatc tgtatagacg actgactgga tcccaggcct gcccttcacc
     6241 caggccccgt ccccgaggcc gacccccagc tcaagcgctg gggcctgctg ccagccctcc
     6301 accttcccca ccccttgggc catcactggg ctaggaaccc ctttgcccct ctctgcagct
     6361 cctctcttca agaagggccc tttgtctttc tccactccca cacacctttc ccaccaagcc
     6421 ttgaagactg tgctggtgag aagaagtctg ggtgggagat ggctggcagg gtcttccaag
     6481 taccttcctc ccacactgcc aagtatacac aacttcccag taaatggttg tggggaggaa
     6541 agaggtggag cctccccagc cgtttccctg cagaatcagc tctgtctcat gtggaagtgg
     6601 agaatcagcc ttgcctggcc tttaggaact tttgtgggga agagagcttt gaagagagga
     6661 gggggacttt agagagggat gaaaatgagc cctgggaggg aggaagggac gaggaggggt
     6721 ggctgcatgt taccgtcccc tacctctccc cacgtggagg gtggagcagt tatgagggag
     6781 gaagtcaact gctgttcagc ctcagaataa aggtgccgtt cactggctca gttacctcct
     6841 gtgtaccggc atcttgtgtt gggaatgttc ccccctccct agggaccaag gaccacccct
     6901 acaaaaagag taatggttgg gtgatactcc ctcaagccaa agaggagctc cccaacctgt
     6961 tctagggacc caggtaacct agaagggtgg gagagaatac aatgggccag atgtggtgga
     7021 agcccagctc tggggctcag gttcctggaa gacttctact accctccctc ctcaaggcct
     7081 ggatacagac taaatttgta taagtcaggc aggggaccta gtcagggtct tgggagctac
     7141 cttgtcgttg ggaccagagc aaaatagtgg agggcaggct agggaaatgt gggcacatcc
     7201 cccctcccag gaggggccgg ggagagtggc agtttgcatg gcgaaccccc cacttcctct
     7261 ttgctgcccc ttcactttct tgctgcccct ttcccagtct ctcttcacac ccactcctgg
     7321 tctgtcctga tcccctcttc tgtatcaggt ttattggttg tacatataaa ttatactttc
     7381 ctttc
//
LOCUS       NM_001005274             987 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily A member 16
            (OR4A16), mRNA.
ACCESSION   NM_001005274
VERSION     NM_001005274.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 987)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC140748.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000314721.5/ ENSP00000325128.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065519.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..987
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q11"
     gene            1..987
                     /gene="OR4A16"
                     /gene_synonym="OR11-117; OR4A16Q"
                     /note="olfactory receptor family 4 subfamily A member 16"
                     /db_xref="GeneID:81327"
                     /db_xref="HGNC:HGNC:15153"
     CDS             1..987
                     /gene="OR4A16"
                     /gene_synonym="OR11-117; OR4A16Q"
                     /note="olfactory receptor OR11-117"
                     /codon_start=1
                     /product="olfactory receptor 4A16"
                     /protein_id="NP_001005274.1"
                     /db_xref="CCDS:CCDS31499.1"
                     /db_xref="GeneID:81327"
                     /db_xref="HGNC:HGNC:15153"
                     /translation="MRPSSNVTEFVLLGLTQDPDVKKTLFVMFLLIYIVTMVGNLLIWV
                     TTIGSPSLGSLMYFFLAYLSLMDAIYSTAMSPKLMIDLLCDKIAISLSACMGQLFIEHL
                     LGGAEVFLLVVMAYDRYVAISKPLHYLNIMNRLVCILLLVVAMIGGFVHSVVQIVFLYS
                     LPICGPNVIDHSVCDMYPLLELLCLDTYFIGLTVVANGGIICMVIFTFLLISCGVILNF
                     LKTYSQEERHKALPTCISHIIVVALVFVPCIFMYVRPVSNFPFDKLMTVFYSIITLMLN
                     PLIYSLRQSEMKNAMKNLWCEKLSIVRKRVSPTLNIFIPSSKATNRR"
     misc_feature    16..18
                     /gene="OR4A16"
                     /gene_synonym="OR11-117; OR4A16Q"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH70.1); glycosylation site"
     misc_feature    70..141
                     /gene="OR4A16"
                     /gene_synonym="OR11-117; OR4A16Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH70.1);
                     transmembrane region"
     misc_feature    166..231
                     /gene="OR4A16"
                     /gene_synonym="OR11-117; OR4A16Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH70.1);
                     transmembrane region"
     misc_feature    295..354
                     /gene="OR4A16"
                     /gene_synonym="OR11-117; OR4A16Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH70.1);
                     transmembrane region"
     misc_feature    412..468
                     /gene="OR4A16"
                     /gene_synonym="OR11-117; OR4A16Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH70.1);
                     transmembrane region"
     misc_feature    580..651
                     /gene="OR4A16"
                     /gene_synonym="OR11-117; OR4A16Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH70.1);
                     transmembrane region"
     misc_feature    700..768
                     /gene="OR4A16"
                     /gene_synonym="OR11-117; OR4A16Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH70.1);
                     transmembrane region"
     misc_feature    802..861
                     /gene="OR4A16"
                     /gene_synonym="OR11-117; OR4A16Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH70.1);
                     transmembrane region"
ORIGIN
        1 atgagaccaa gcagcaatgt tacagaattt gtcctcctgg gcctcactca agatcctgat
       61 gtgaaaaaaa cattatttgt catgttttta ctcatataca ttgtgacaat ggtgggaaac
      121 ctcctcattt gggtgactac tattggcagc ccctccttgg gctccctaat gtacttcttc
      181 cttgcctact tgtcacttat ggatgccata tattccactg ccatgtcacc caaattgatg
      241 atagacttac tctgtgataa aatcgctatt tccttgtcag cttgcatggg tcagctcttc
      301 atagaacact tacttggtgg tgcagaggtc ttccttttgg tggtgatggc ctatgatcgc
      361 tatgtggcta tctctaagcc gctgcactat ttgaacatca tgaatcgact ggtttgcatc
      421 cttctgttgg tggtggccat gattggaggt tttgtgcact ctgtggttca aattgtcttt
      481 ctgtacagtc taccaatctg tggccccaat gttattgacc actctgtctg tgacatgtac
      541 ccattgttgg aactgttgtg ccttgacacc tactttatag gactcactgt ggttgccaat
      601 ggtggaataa tttgtatggt catctttacc tttctgctaa tctcctgtgg agtcatccta
      661 aacttcctta aaacttacag tcaggaagag aggcataaag ccctgcctac ctgcatctcc
      721 cacatcattg tggttgccct cgtttttgtt ccctgtattt ttatgtatgt tagacccgtt
      781 tccaactttc cctttgataa attaatgact gtgttttatt caattatcac actcatgttg
      841 aatcctttaa tatactcgtt gagacaatca gagatgaaaa atgctatgaa aaatctctgg
      901 tgtgaaaagt taagtatagt tagaaaaaga gtatctccca cactgaacat atttattcct
      961 agttctaagg caacaaatag gcggtaa
//
LOCUS       NM_001005275             945 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily A member 15
            (OR4A15), mRNA.
ACCESSION   NM_001005275
VERSION     NM_001005275.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 945)
  AUTHORS   Chung SA, Taylor KE, Graham RR, Nititham J, Lee AT, Ortmann WA,
            Jacob CO, Alarcon-Riquelme ME, Tsao BP, Harley JB, Gaffney PM, Moser
            KL, Petri M, Demirci FY, Kamboh MI, Manzi S, Gregersen PK, Langefeld
            CD, Behrens TW and Criswell LA.
  CONSRTM   SLEGEN
  TITLE     Differential genetic associations for systemic lupus erythematosus
            based on anti-dsDNA autoantibody production
  JOURNAL   PLoS Genet 7 (3), e1001323 (2011)
   PUBMED   21408207
REFERENCE   2  (bases 1 to 945)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 945)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641526.1/ ENSP00000493060.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP005639.2.
            On Jun 16, 2021 this sequence version replaced NM_001005275.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..945
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q11"
     gene            1..945
                     /gene="OR4A15"
                     /gene_synonym="OR11-118"
                     /note="olfactory receptor family 4 subfamily A member 15"
                     /db_xref="GeneID:81328"
                     /db_xref="HGNC:HGNC:15152"
     CDS             1..945
                     /gene="OR4A15"
                     /gene_synonym="OR11-118"
                     /note="olfactory receptor OR11-118"
                     /codon_start=1
                     /product="olfactory receptor 4A15"
                     /protein_id="NP_001005275.2"
                     /db_xref="CCDS:CCDS31500.2"
                     /db_xref="GeneID:81328"
                     /db_xref="HGNC:HGNC:15152"
                     /translation="MKNKNNVTEFILLGLTQNPEGQKVLFVTFLLIYMVTIMGNLLIIV
                     TIMASQSLGSPMYFFLASLSFIDTVYSTAFAPKMIVDLLSEKKTISFQGCMAQLFMDHL
                     FAGAEVILLVVMAYDRYMAICKPLHELITMNRRVCVLMLLAAWIGGFLHSLVQFLFIYQ
                     LPFCGPNVIDNFLCDLYPLLKLACTNTYVTGLSMIANGGAICAVTFFTILLSYGVILHS
                     LKTQSLEGKRKAFYTCASHVTVVILFFVPCIFLYARPNSTFPIDKSMTVVLTFITPMLN
                     PLIYTLKNAEMKSAMRKLWSKKVSLAGKWLYHS"
ORIGIN
        1 atgaaaaata agaacaatgt gactgaattt atcctcttag ggctcacaca gaaccctgag
       61 gggcaaaagg ttttatttgt cacattctta ctaatctaca tggtgacgat aatgggcaac
      121 ctgcttatca tagtgaccat catggccagc cagtccctgg gttcccccat gtactttttt
      181 ctggcttctt tatcattcat agataccgtc tattctactg catttgctcc caaaatgatt
      241 gttgacttgc tctctgagaa aaagaccatt tcctttcagg gttgtatggc tcaacttttt
      301 atggatcatt tatttgctgg tgctgaagtc attcttctgg tggtaatggc ctatgatcga
      361 tacatggcca tctgtaagcc tcttcatgaa ttgatcacca tgaatcgtcg agtctgtgtt
      421 cttatgctgt tggcggcctg gattggaggc tttcttcact cattggttca atttctcttt
      481 atttatcagc tccctttctg tggacccaat gtcattgaca acttcctgtg tgatttgtat
      541 cccttattga aacttgcttg caccaatacc tatgtcactg ggctttctat gatagctaat
      601 ggaggagcga tttgtgctgt caccttcttc actatcctgc tttcctatgg ggtcatatta
      661 cactctctta agactcagag tttggaaggg aaacgaaaag ctttctacac ctgtgcatcc
      721 cacgtcactg tggtcatttt attctttgtc ccctgtatct tcttgtatgc aaggcccaat
      781 tctacttttc ccattgataa atccatgact gtagttctaa cttttataac tcccatgctg
      841 aacccactaa tctataccct gaagaatgca gaaatgaaaa gtgccatgag gaaactttgg
      901 agtaaaaaag taagcttagc tgggaaatgg ctgtatcact catga
//
LOCUS       NM_001005276             972 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily AE member 1
            (OR2AE1), mRNA.
ACCESSION   NM_001005276
VERSION     NM_001005276.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 972)
  AUTHORS   Thompson EE, Kuttab-Boulos H, Yang L, Roe BA and Di Rienzo A.
  TITLE     Sequence diversity and haplotype structure at the human CYP3A
            cluster
  JOURNAL   Pharmacogenomics J 6 (2), 105-114 (2006)
   PUBMED   16314882
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000316368.3/ ENSP00000313936.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065478.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..972
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..972
                     /gene="OR2AE1"
                     /gene_synonym="OR2AE2"
                     /note="olfactory receptor family 2 subfamily AE member 1"
                     /db_xref="GeneID:81392"
                     /db_xref="HGNC:HGNC:15087"
     CDS             1..972
                     /gene="OR2AE1"
                     /gene_synonym="OR2AE2"
                     /note="olfactory receptor, family 2, subfamily AE, member
                     2; olfactory receptor 2AE2"
                     /codon_start=1
                     /product="olfactory receptor 2AE1"
                     /protein_id="NP_001005276.1"
                     /db_xref="CCDS:CCDS34696.1"
                     /db_xref="GeneID:81392"
                     /db_xref="HGNC:HGNC:15087"
                     /translation="MWQKNQTSLADFILEGLFDDSLTHLFLFSLTMVVFLIAVSGNTLT
                     ILLICIDPQLHTPMYFLLSQLSLMDLMHVSTIILKMATNYLSGKKSISFVGCATQHFLY
                     LCLGGAECFLLAVMSYDRYVAICHPLRYAVLMNKKVGLMMAVMSWLGASVNSLIHMAIL
                     MHFPFCGPRKVYHFYCEFPAVVKLVCGDITVYETTVYISSILLLLPIFLISTSYVFILQ
                     SVIQMRSSGSKRNAFATCGSHLTVVSLWFGACIFSYMRPRSQCTLLQNKVGSVFYSIIT
                     PTLNSLIYTLRNKDVAKALRRVLRRDVITQCIQRLQLWLPRV"
     misc_feature    13..15
                     /gene="OR2AE1"
                     /gene_synonym="OR2AE2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NHA4.1); glycosylation site"
     misc_feature    76..147
                     /gene="OR2AE1"
                     /gene_synonym="OR2AE2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHA4.1);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR2AE1"
                     /gene_synonym="OR2AE2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHA4.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR2AE1"
                     /gene_synonym="OR2AE2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHA4.1);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR2AE1"
                     /gene_synonym="OR2AE2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHA4.1);
                     transmembrane region"
     misc_feature    586..654
                     /gene="OR2AE1"
                     /gene_synonym="OR2AE2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHA4.1);
                     transmembrane region"
     misc_feature    706..774
                     /gene="OR2AE1"
                     /gene_synonym="OR2AE2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHA4.1);
                     transmembrane region"
     misc_feature    814..873
                     /gene="OR2AE1"
                     /gene_synonym="OR2AE2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHA4.1);
                     transmembrane region"
ORIGIN
        1 atgtggcaga agaatcagac ctctctggca gacttcatcc ttgaggggct cttcgatgac
       61 tcccttaccc accttttcct tttctccttg accatggtgg tcttccttat tgcggtgagt
      121 ggcaacaccc tcaccattct cctcatctgc attgatcccc agcttcatac accaatgtat
      181 ttcctgctca gccagctctc cctcatggat ctgatgcatg tctccacaat catcctgaag
      241 atggctacca actacctatc tggcaagaaa tctatctcct ttgtgggctg tgcaacccag
      301 cacttcctct atttgtgtct aggtggtgct gaatgttttc tcttagctgt catgtcctat
      361 gaccgctatg ttgccatctg tcatccactg cgctatgctg tgctcatgaa caagaaggtg
      421 ggactgatga tggctgtcat gtcatggttg ggggcatccg tgaactccct aattcacatg
      481 gcgatcttga tgcacttccc tttctgtggg cctcggaaag tctaccactt ctactgtgag
      541 ttcccagctg ttgtgaagtt ggtatgtggc gacatcactg tgtatgagac cacagtgtac
      601 atcagcagca ttctcctcct cctccccatc ttcctgattt ctacatccta tgtcttcatc
      661 cttcaaagtg tcattcagat gcgctcatct gggagcaaga gaaatgcctt tgccacttgt
      721 ggctcccacc tcacggtggt ttctctttgg tttggtgcct gcatcttctc ctacatgaga
      781 cccaggtccc agtgcactct attgcagaac aaagttggtt ctgtgttcta cagcatcatt
      841 acgcccacat tgaattctct gatttatact ctccggaata aagatgtagc taaggctctg
      901 agaagagtgc tgaggagaga tgttatcacc cagtgcattc aacgactgca attgtggttg
      961 ccccgagtgt ag
//
LOCUS       NM_001005277             939 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily F member 16
            (OR4F16), mRNA.
ACCESSION   NM_001005277
VERSION     NM_001005277.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 939)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332831.5/ ENSP00000329982.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC114498.2.
            On Sep 20, 2006 this sequence version replaced XM_927013.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..939
                     /gene="OR4F16"
                     /gene_synonym="OR1-1; OR7-21"
                     /note="olfactory receptor family 4 subfamily F member 16"
                     /db_xref="GeneID:81399"
                     /db_xref="HGNC:HGNC:15079"
     CDS             1..939
                     /gene="OR4F16"
                     /gene_synonym="OR1-1; OR7-21"
                     /note="olfactory receptor OR1-1; olfactory receptor OR7-21;
                     olfactory receptor OR4F16"
                     /codon_start=1
                     /product="olfactory receptor 4F3/4F16/4F29"
                     /protein_id="NP_001005277.1"
                     /db_xref="CCDS:CCDS41221.1"
                     /db_xref="GeneID:81399"
                     /db_xref="HGNC:HGNC:15079"
                     /translation="MDGENHSVVSEFLFLGLTHSWEIQLLLLVFSSVLYVASITGNILI
                     VFSVTTDPHLHSPMYFLLASLSFIDLGACSVTSPKMIYDLFRKRKVISFGGCIAQIFFI
                     HVVGGVEMVLLIAMAFDRYVALCKPLHYLTIMSPRMCLSFLAVAWTLGVSHSLFQLAFL
                     VNLAFCGPNVLDSFYCDLPRLLRLACTDTYRLQFMVTVNSGFICVGTFFILLISYVFIL
                     FTVWKHSSGGSSKALSTLSAHSTVVLLFFGPPMFVYTRPHPNSQMDKFLAIFDAVLTPF
                     LNPVVYTFRNKEMKAAIKRVCKQLVIYKRIS"
     misc_feature    13..15
                     /gene="OR4F16"
                     /gene_synonym="OR1-1; OR7-21"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6IEY1.1); glycosylation site"
     misc_feature    76..147
                     /gene="OR4F16"
                     /gene_synonym="OR1-1; OR7-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR4F16"
                     /gene_synonym="OR1-1; OR7-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR4F16"
                     /gene_synonym="OR1-1; OR7-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR4F16"
                     /gene_synonym="OR1-1; OR7-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1);
                     transmembrane region"
     misc_feature    586..657
                     /gene="OR4F16"
                     /gene_synonym="OR1-1; OR7-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1);
                     transmembrane region"
     misc_feature    706..774
                     /gene="OR4F16"
                     /gene_synonym="OR1-1; OR7-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1);
                     transmembrane region"
     misc_feature    808..867
                     /gene="OR4F16"
                     /gene_synonym="OR1-1; OR7-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IEY1.1);
                     transmembrane region"
ORIGIN
        1 atggatggag agaatcactc agtggtatct gagtttttgt ttctgggact cactcattca
       61 tgggagatcc agctcctcct cctagtgttt tcctctgtgc tctatgtggc aagcattact
      121 ggaaacatcc tcattgtgtt ttctgtgacc actgaccctc acttacactc ccccatgtac
      181 tttctactgg ccagtctctc cttcattgac ttaggagcct gctctgtcac ttctcccaag
      241 atgatttatg acctgttcag aaagcgcaaa gtcatctcct ttggaggctg catcgctcaa
      301 atcttcttca tccacgtcgt tggtggtgtg gagatggtgc tgctcatagc catggccttt
      361 gacagatatg tggccctatg taagcccctc cactatctga ccattatgag cccaagaatg
      421 tgcctttcat ttctggctgt tgcctggacc cttggtgtca gtcactccct gttccaactg
      481 gcatttcttg ttaatttagc cttctgtggc cctaatgtgt tggacagctt ctactgtgac
      541 cttcctcggc ttctcagact agcctgtacc gacacctaca gattgcagtt catggtcact
      601 gttaacagtg ggtttatctg tgtgggtact ttcttcatac ttctaatctc ctacgtcttc
      661 atcctgttta ctgtttggaa acattcctca ggtggttcat ccaaggccct ttccactctt
      721 tcagctcaca gcacagtggt ccttttgttc tttggtccac ccatgtttgt gtatacacgg
      781 ccacacccta attcacagat ggacaagttt ctggctattt ttgatgcagt tctcactcct
      841 tttctgaatc cagttgtcta tacattcagg aataaggaga tgaaggcagc aataaagaga
      901 gtatgcaaac agctagtgat ttacaagagg atctcataa
//
LOCUS       NM_001005278            3455 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily N member 2
            (OR6N2), mRNA.
ACCESSION   NM_001005278
VERSION     NM_001005278.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3455)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641131.1/ ENSP00000493148.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL513205.8.
            On Jan 12, 2021 this sequence version replaced NM_001005278.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..3455
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     gene            1..3455
                     /gene="OR6N2"
                     /gene_synonym="OR1-23"
                     /note="olfactory receptor family 6 subfamily N member 2"
                     /db_xref="GeneID:81442"
                     /db_xref="HGNC:HGNC:15035"
     CDS             42..995
                     /gene="OR6N2"
                     /gene_synonym="OR1-23"
                     /note="olfactory receptor OR1-23"
                     /codon_start=1
                     /product="olfactory receptor 6N2"
                     /protein_id="NP_001005278.1"
                     /db_xref="CCDS:CCDS30906.1"
                     /db_xref="GeneID:81442"
                     /db_xref="HGNC:HGNC:15035"
                     /translation="MDQYNHSSLAEFVFLGFASVGYVRGWLFVLLLLAYLFTICGNMLI
                     FSVIRLDAALHTPMYHFVSVLSFLELWYTATTIPKMLSNILSEKKTISFAGCLLQTYFF
                     HSLGASECYLLTAMAYDRYLAICRPLHYPIIMTTTLCAKMAAACWTCGFLCPISEVILA
                     SQLPFCAYNEIQHIFCDFPPLLSLACKDTSANILVDFAINAFIILITFFFIMISYARII
                     GAVLKIKTASGRKKAFSTCASHLAVVLIFFGSIIFMYVRLKKSYSLTLDRTLAIVYSVL
                     TPMVNPIIYSLRNKEIIKAIKRTIFQKGDKASLAHL"
     misc_feature    54..56
                     /gene="OR6N2"
                     /gene_synonym="OR1-23"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGY6.1); glycosylation site"
     misc_feature    117..179
                     /gene="OR6N2"
                     /gene_synonym="OR1-23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY6.1);
                     transmembrane region"
     misc_feature    204..266
                     /gene="OR6N2"
                     /gene_synonym="OR1-23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY6.1);
                     transmembrane region"
     misc_feature    339..401
                     /gene="OR6N2"
                     /gene_synonym="OR1-23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY6.1);
                     transmembrane region"
     misc_feature    459..521
                     /gene="OR6N2"
                     /gene_synonym="OR1-23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY6.1);
                     transmembrane region"
     misc_feature    633..692
                     /gene="OR6N2"
                     /gene_synonym="OR1-23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY6.1);
                     transmembrane region"
     misc_feature    753..815
                     /gene="OR6N2"
                     /gene_synonym="OR1-23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY6.1);
                     transmembrane region"
     misc_feature    855..917
                     /gene="OR6N2"
                     /gene_synonym="OR1-23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY6.1);
                     transmembrane region"
ORIGIN
        1 gatcaaagca gacactgaat agtgttcagt ggttgcctcc catggatcaa tacaaccatt
       61 caagcctggc tgaatttgtg ttccttggct ttgccagtgt gggctatgtc aggggctggc
      121 tttttgtcct gctgctattg gcatacctgt tcaccatctg tggtaacatg ctcatcttct
      181 cagtcatccg actggatgca gctctgcaca cacctatgta ccactttgtc agtgttcttt
      241 ccttcttgga gttgtggtat acagctacca ctatccctaa gatgttgtct aatattctca
      301 gtgagaagaa aaccatttct tttgcaggat gcctccttca gacctacttc ttccactcct
      361 tgggagcgtc tgaatgctac cttcttacag ccatggccta tgatagatac ctggccattt
      421 gtcggcccct ccactaccct ataattatga ccaccacact ctgtgccaag atggctgctg
      481 cttgttggac ttgtggcttc ctgtgtccca tttctgaggt catccttgcc tcccagctcc
      541 cattttgtgc ttacaatgaa atccaacaca ttttctgtga ctttccacct ttgctgagct
      601 tggcctgcaa ggacacatct gctaacattc tggtggactt tgccattaat gctttcataa
      661 ttcttatcac tttcttcttt atcatgattt cttatgcaag gatcattggg gctgtgctga
      721 agataaaaac agcatcagga agaaagaagg ccttttctac ctgtgcctca catcttgctg
      781 tggtcctcat cttctttggg agcatcatct tcatgtatgt gcggctaaag aagagctatt
      841 ccctgaccct tgaccgaaca cttgctatag tttactccgt actaacacca atggtcaatc
      901 caattatcta cagtcttcgt aacaaggaaa tcattaaagc tatcaagagg accatcttcc
      961 agaagggaga taaagctagt cttgctcatc tttgactttc ttcccatgtc ctttctcacc
     1021 tcaatgttca attcataaaa gttccttgag taatcttccc atcatcacac atgctctgaa
     1081 tttcatttcc tttcacctct tcaaagactt catttcttta tgattttctc attttctaca
     1141 tctttatttc tattttttac tcgatcactt atgtcagcat ttaagaatat tttagtatct
     1201 acatacttct ttttttaaaa aaaagcatgt atatttccta ggtccacaca tttccatcca
     1261 gctagagatc gatttctctg ttcctttttc caatcaaact tctcaacaca ccatatttcc
     1321 tcttctttac ttcatatcca cttctcaacc cattccaatc ttattttggc tcagaccttc
     1381 caactaatat tttgtgaagg ccattattga cctcaatgct gccaaatcca tgagaaactt
     1441 cttttccttc ctctctcctg aactcttgac acacatgacc agtttttatg cctcaattct
     1501 cctaactttt tactccttaa ctctccctaa ctctcatgac atcattacct cccaattttc
     1561 ttatctttct tgtgagtctt tcccagtctt cgttgtcctg ccgtgctatc tccctagata
     1621 ctcggagtta ttcttatgga tttaaatatg atctctatca caaggcctct taaattttta
     1681 tctccaaacc acaatttttc tctgagattt agatttatat attcaacttc ctacttatca
     1741 acactgcctg gattggactt gtcaataatt taaaacttaa catgtcaaaa ttgatttctt
     1801 aaaatttcta accatgaaag cttgatgctt ttgtttcctt gtgtttcttc tagaaaattt
     1861 taaatattct attttgcttc cttttcttac aaccataatt ccaatcaatt attaatgtat
     1921 gccaacaatc ttttcacaaa atatattctt aaatcaattt atttcttata ctctttagtg
     1981 tttctaccct ggtgtaaatt accaacatct ctcaattgga ttaatgtaat aatattctac
     2041 ccatgctcct ttctcctact ctcattctat tctaatatat tttccacata aaatataaag
     2101 taatgtattt gaaatctgaa ttgtatatac cattttataa aaacatgaga aattctcaat
     2161 tgcccttaag ataaaattca aagcctcacc atactttata aggctataaa cggaattctt
     2221 ccctgccttc ctcttcaaca tagattcata cctctactcc ctcagctccc tctttcctag
     2281 ctacatgatt actctttcag gtcttcaaat acattatgga tttttctggc ttcaggatct
     2341 tcactccgtt ttttccccaa catttcattt ggttcactcc tcctaattgt gtgattttct
     2401 gttcaaatat caatttccag tgatgctagc tttgagagga cttctgaaca ctcagtctaa
     2461 tttatgtcac tcatttttat ctctgaagta tgttttgctt ctcttcaaaa tatgtatggc
     2521 aatttatgtg tttgtggaca tttatgtata tatacataga tatagtttgt cattctttcc
     2581 tacaagtatc tataaactag atttggtctc aaattatttc agatttttta tttgttgtgt
     2641 gtccagaaac taacacagca cctaaatagg atgagtattc aatgcaatcg taatgaatga
     2701 aacatgtgat gaattttacc cacacctggt caataatata tttggccttt aacaatgaca
     2761 taatgattct aatcattact gaaacccact gttctataga atgcatcggt cttccctatt
     2821 tgtactcacc agttttctgc acatcccacc tcaacttgtc tcacatctgc cttttgaatt
     2881 tccttggata atactggtaa ctagtccttg cttagctact gtgcatcata ctaggttaat
     2941 tttctggatc tgtatttttt tttttcactc acaaactttg gtgggcatgt aagctatccc
     3001 tagataatat tcatttttaa catgatatgg ttatgcgtaa acataaattt tcatgtcatt
     3061 tgggaaaatg cataagtata ggattgctag gtcacacgat aaatgtatgt ttataattag
     3121 ctgtctaact gttttccaaa gactagtgct ttttgggtcc ctccgctgtg gtacaatgtg
     3181 gggcatgtgt agtgagagtt cattcagcct gggcagcttt cctgagctgt gggaatgggc
     3241 ttgtgatgaa ccccaggctt ctgtttctca ttgctgcatg tctatgagta acaaatctgc
     3301 ttttcttgat ttgttgtgtg ttttatctca gcaggttcat gaactaggta gagaaccttt
     3361 gcatatatat gtatgtcctt ttctccaaat cctccctgct gtcatccgca ctattttatc
     3421 atatattttt gtaaaataaa cacacagtac attgc
//
LOCUS       NM_001005279             975 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily K member 2
            (OR6K2), mRNA.
ACCESSION   NM_001005279
VERSION     NM_001005279.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 975)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC137022.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000359610.3/ ENSP00000352626.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL513205.8.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 18, 2020 this sequence version replaced NM_001005279.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..975
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     gene            1..975
                     /gene="OR6K2"
                     /gene_synonym="OR1-17"
                     /note="olfactory receptor family 6 subfamily K member 2"
                     /db_xref="GeneID:81448"
                     /db_xref="HGNC:HGNC:15029"
     CDS             1..975
                     /gene="OR6K2"
                     /gene_synonym="OR1-17"
                     /note="olfactory receptor OR1-17"
                     /codon_start=1
                     /product="olfactory receptor 6K2"
                     /protein_id="NP_001005279.1"
                     /db_xref="CCDS:CCDS30902.1"
                     /db_xref="GeneID:81448"
                     /db_xref="HGNC:HGNC:15029"
                     /translation="MESPNRTTIQEFIFSAFPYSWVKSVVCFVPLLFIYAFIVVGNLVI
                     ITVVQLNTHLHTPMYTFISALSFLEIWYTTATIPKMLSSLLSERSISFNGCLLQMYFFH
                     STGICEVCLLTVMAFDHYLAICSPLHYPSIMTPKLCTQLTLSCCVCGFITPLPEIAWIS
                     TLPFCGSNHLEHIFCDFLPVLRLACTDTRAIVMIQVVDVIHAVEIITAVMLIFMSYDGI
                     VAVILRIHSAGGRRTAFSTCVSHFIVFSLFFGSVTLMYLRFSATYSLFWDIAIALAFAV
                     LSPFFNPIIYSLRNKEIKEAIKKHIGQAKIFFSVRPGTSSKIF"
     misc_feature    13..15
                     /gene="OR6K2"
                     /gene_synonym="OR1-17"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGY2.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR6K2"
                     /gene_synonym="OR1-17"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY2.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR6K2"
                     /gene_synonym="OR1-17"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY2.1);
                     transmembrane region"
     misc_feature    295..357
                     /gene="OR6K2"
                     /gene_synonym="OR1-17"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY2.1);
                     transmembrane region"
     misc_feature    415..477
                     /gene="OR6K2"
                     /gene_synonym="OR1-17"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY2.1);
                     transmembrane region"
     misc_feature    595..654
                     /gene="OR6K2"
                     /gene_synonym="OR1-17"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY2.1);
                     transmembrane region"
     misc_feature    715..777
                     /gene="OR6K2"
                     /gene_synonym="OR1-17"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY2.1);
                     transmembrane region"
     misc_feature    817..879
                     /gene="OR6K2"
                     /gene_synonym="OR1-17"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGY2.1);
                     transmembrane region"
ORIGIN
        1 atggagagcc ccaatcgaac caccattcag gagtttatct tctccgcttt cccttattcc
       61 tgggttaagt ctgttgtctg ctttgttcca ctgctcttca tctatgcttt cattgttgtt
      121 ggaaacctgg tcatcatcac agtggtccag ttgaatactc acctccacac tcccatgtat
      181 acttttatca gtgctctttc tttcctggag atttggtata ccacagccac aatcccaaag
      241 atgctgtcta gcctgcttag tgagaggagc atttccttca atggttgtct cctgcagatg
      301 tatttcttcc attccaccgg catctgtgag gtgtgtctct tgacagttat ggcctttgac
      361 cactacctgg ccatatgcag ccctcttcat tatccctcta tcatgacccc caagctatgt
      421 acccaactga ctttaagttg ctgtgtttgt ggctttatca caccccttcc tgagattgcc
      481 tggatctcta cactgccatt ttgtggttcg aatcaccttg aacatatctt ctgtgacttc
      541 ctcccagtgc tgcgtctggc ctgcacagac acacgagcca tcgtcatgat tcaggtagtg
      601 gatgtcattc atgcagtgga gattattaca gctgtgatgc tcatcttcat gtcctacgat
      661 ggtattgtgg ctgtaattct acgtattcat tcagctggag gccgccgcac agcattttcc
      721 acgtgtgtct ctcacttcat tgtcttttcg ctcttctttg gcagtgtgac tctcatgtac
      781 ctacgcttct ctgccaccta ctctttgttc tgggatatag ccattgctct ggcctttgca
      841 gttttgtctc ccttcttcaa ccccattatc tatagcctga ggaataaaga aataaaagaa
      901 gctataaaaa agcacatagg tcaagctaag atattttttt ccgtaagacc agggacctca
      961 agtaagatat tttag
//
LOCUS       NM_001005280             951 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily A member 7
            (OR10A7), mRNA.
ACCESSION   NM_001005280
VERSION     NM_001005280.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 951)
  AUTHORS   Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and
            Mollon JD.
  TITLE     Variants in the 1q21 risk region are associated with a visual
            endophenotype of autism and schizophrenia
  JOURNAL   Genes Brain Behav 13 (2), 144-151 (2014)
   PUBMED   24152035
REFERENCE   2  (bases 1 to 951)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 951)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326258.1/ ENSP00000326718.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC090048.7.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..951
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..951
                     /gene="OR10A7"
                     /gene_synonym="OR12-6"
                     /note="olfactory receptor family 10 subfamily A member 7"
                     /db_xref="GeneID:121364"
                     /db_xref="HGNC:HGNC:15329"
     CDS             1..951
                     /gene="OR10A7"
                     /gene_synonym="OR12-6"
                     /note="olfactory receptor OR12-6"
                     /codon_start=1
                     /product="olfactory receptor 10A7"
                     /protein_id="NP_001005280.1"
                     /db_xref="CCDS:CCDS31815.1"
                     /db_xref="GeneID:121364"
                     /db_xref="HGNC:HGNC:15329"
                     /translation="MICENHTRVTEFILLGFTNNPEMQVSLFIFFLAIYTVTLLGNFLI
                     VTVTSVDLALQTPMYFFLQNLSLLEVCFTLVMVPKMLVDLVSPRKIISFVGCGTQMYFF
                     FFFGSSECFLLSMMAYDRFVAICNPLHYSVIMNRSLCLWMAIGSWMSGVPVSMLQTAWM
                     MALPFCGPNAVDHFFCDGPPVLKLVTVDTTMYEMQALASTLLFIMFPFCLILVSYTRII
                     ITILRMSSATGRQKAFSTCSSHLIVVSLFYGTASLTYLRPKSNQSPESKKLVSLSYTVI
                     TPMLNPIIYGLRNNEVKGAVKRTITQKVLQKLDVF"
     misc_feature    13..15
                     /gene="OR10A7"
                     /gene_synonym="OR12-6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGE5.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR10A7"
                     /gene_synonym="OR12-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE5.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR10A7"
                     /gene_synonym="OR12-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE5.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR10A7"
                     /gene_synonym="OR12-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE5.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR10A7"
                     /gene_synonym="OR12-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE5.1);
                     transmembrane region"
     misc_feature    592..651
                     /gene="OR10A7"
                     /gene_synonym="OR12-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE5.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR10A7"
                     /gene_synonym="OR12-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE5.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR10A7"
                     /gene_synonym="OR12-6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE5.1);
                     transmembrane region"
ORIGIN
        1 atgatctgtg aaaatcacac cagagtcact gaatttattc ttcttggttt tacaaacaac
       61 cccgagatgc aagtttccct ctttattttt ttcctggcca tttatacagt cactttgttg
      121 ggcaactttc ttattgtcac agttaccagt gtggatctcg cacttcaaac acccatgtac
      181 ttctttcttc aaaatctgtc acttcttgaa gtatgtttca ccttggttat ggtgccaaaa
      241 atgcttgtag atctagtgtc cccaaggaaa attatctctt ttgtgggctg tggtacccag
      301 atgtacttct tcttcttctt tggcagttct gaatgtttcc ttctctccat gatggcttat
      361 gatcgctttg tggccatctg taaccctctc cattattcag tcataatgaa caggtcccta
      421 tgcttgtgga tggccatagg ctcttggatg tccggtgttc ctgtgtctat gctacagaca
      481 gcttggatga tggcccttcc tttctgtgga ccaaatgccg tggaccactt tttctgtgat
      541 ggtcccccag tgttaaaact agtcacagtg gatacaacca tgtatgaaat gcaagcactt
      601 gcctccacac tcctgtttat catgtttccc ttttgtctca ttttggtttc ctacacccgc
      661 attatcataa caattctgag gatgtcctct gccactggcc gccagaaggc attttctact
      721 tgttcctcac acctcattgt ggtgtccctc ttctacggaa cagccagtct gacctacctg
      781 cggcccaaat caaaccagtc ccctgagagc aagaagctag tgtcattgtc ctacactgtc
      841 atcacaccta tgctaaaccc catcatctac ggcctgagga acaatgaagt gaaaggggct
      901 gtcaagagga caatcactca aaaagtctta cagaagttag atgtgttttg a
//
LOCUS       NM_001005281            5153 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily B member 1
            (OR6B1), mRNA.
ACCESSION   NM_001005281
VERSION     NM_001005281.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5153)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 5153)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 5153)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000641698.1/ ENSP00000492907.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004853.1.
            On Aug 10, 2020 this sequence version replaced NM_001005281.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..5153
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q35"
     gene            1..5153
                     /gene="OR6B1"
                     /gene_synonym="OR7-3; OR7-9"
                     /note="olfactory receptor family 6 subfamily B member 1"
                     /db_xref="GeneID:135946"
                     /db_xref="HGNC:HGNC:8354"
     misc_feature    39..41
                     /gene="OR6B1"
                     /gene_synonym="OR7-3; OR7-9"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MFTRKVMGTLVPGCWTKQPRATSDADVVLVPRALLSSYPGFQLESSGAICTQSLFLGL
                     ESGFLTSIQYLNLFLLHLPILELVKALFSHFILSEAAVPRRAKPCVSN"
     misc_feature    57..59
                     /gene="OR6B1"
                     /gene_synonym="OR7-3; OR7-9"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MGTLVPGCWTKQPRATSDADVVLVPRALLSSYPGFQLESSGAICTQSLFLGLESGFLT
                     SIQYLNLFLLHLPILELVKALFSHFILSEAAVPRRAKPCVSN"
     CDS             357..1292
                     /gene="OR6B1"
                     /gene_synonym="OR7-3; OR7-9"
                     /note="olfactory receptor OR7-9; olfactory receptor 7-3"
                     /codon_start=1
                     /product="olfactory receptor 6B1"
                     /protein_id="NP_001005281.1"
                     /db_xref="CCDS:CCDS43667.1"
                     /db_xref="GeneID:135946"
                     /db_xref="HGNC:HGNC:8354"
                     /translation="MELENQTRVTKFILVGFPGSLSMRAAMFLIFLVAYILTVAENVII
                     ILLVLQNRPLHKPMYFFLANLSFLETWYISVTVPKLLFSFWSVNNSISFTLCMIQLYFF
                     IALMCTECVLLAAMAYDRYVAICRPLHYPTIMSHGLCFRLALGSWAIGFGISLAKIYFI
                     SCLSFCGPNVINHFFCDISPVLNLSCTDMSITELVDFILALVIFLFPLFITVLSYGCIL
                     ATILCMPTGKQKAFSTCASHLVVVTIFYSAIIFMYARPRVIHAFNMNKIISIFYAIVTP
                     SLNPFIYCLRNREVKEALKKLAYCQASRSD"
     misc_feature    369..371
                     /gene="OR6B1"
                     /gene_synonym="OR7-3; OR7-9"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O95007.1); glycosylation site"
     misc_feature    432..494
                     /gene="OR6B1"
                     /gene_synonym="OR7-3; OR7-9"
                     /note="propagated from UniProtKB/Swiss-Prot (O95007.1);
                     transmembrane region"
     misc_feature    519..581
                     /gene="OR6B1"
                     /gene_synonym="OR7-3; OR7-9"
                     /note="propagated from UniProtKB/Swiss-Prot (O95007.1);
                     transmembrane region"
     misc_feature    654..716
                     /gene="OR6B1"
                     /gene_synonym="OR7-3; OR7-9"
                     /note="propagated from UniProtKB/Swiss-Prot (O95007.1);
                     transmembrane region"
     misc_feature    774..836
                     /gene="OR6B1"
                     /gene_synonym="OR7-3; OR7-9"
                     /note="propagated from UniProtKB/Swiss-Prot (O95007.1);
                     transmembrane region"
     misc_feature    945..1007
                     /gene="OR6B1"
                     /gene_synonym="OR7-3; OR7-9"
                     /note="propagated from UniProtKB/Swiss-Prot (O95007.1);
                     transmembrane region"
     misc_feature    1062..1124
                     /gene="OR6B1"
                     /gene_synonym="OR7-3; OR7-9"
                     /note="propagated from UniProtKB/Swiss-Prot (O95007.1);
                     transmembrane region"
     misc_feature    1164..1226
                     /gene="OR6B1"
                     /gene_synonym="OR7-3; OR7-9"
                     /note="propagated from UniProtKB/Swiss-Prot (O95007.1);
                     transmembrane region"
ORIGIN
        1 aaaggtcttc acagctcagt gtgcctaaaa tcactgccat gttcaccagg aaggtgatgg
       61 gcaccctagt cccagggtgc tggacgaagc agcctcgtgc cacatcagat gcagatgtgg
      121 tcctagtgcc tagggctctc ctgtcatctt atcctggctt tcagcttgaa agcagtgggg
      181 caatctgtac ccagtcactc tttctaggtt tagaaagtgg gttcctcaca tctattcaat
      241 acctgaatct ttttcttctg catcttccta ttttagaatt ggtgaaggct ttgttttcac
      301 atttcatcct atcagaggct gctgtgccaa ggagagctaa gccctgtgtc tccaatatgg
      361 agttggagaa ccagacacga gtcaccaagt tcattctggt gggattccct gggagcttga
      421 gtatgcgggc agccatgttt ctgatattcc ttgtggccta tattctgaca gtggctgaaa
      481 acgtgatcat catcctattg gtgctgcaaa atcggccact gcacaagcct atgtacttct
      541 tcctggccaa cctgtccttc ttggagacct ggtacatctc tgtgactgtg cccaagttac
      601 tgtttagttt ttggtctgtg aacaacagca tctctttcac actctgtatg atacaactgt
      661 acttcttcat tgctctcatg tgcacagaat gtgtgcttct ggccgccatg gcctatgacc
      721 ggtatgtggc catctgtcgc ccactccact acccaaccat aatgagccat gggctctgct
      781 tccgcctcgc tcttggttcc tgggccattg gctttggcat ctccctggcg aagatctact
      841 tcatctcctg cctcagcttc tgtggtccca atgtcatcaa ccacttcttc tgtgacatct
      901 ctccagtact taatctctcc tgcacagaca tgtccataac tgagttggta gactttatcc
      961 tggcactggt catcttccta ttcccactct ttattactgt cctgtcctac ggatgcattc
     1021 tggccaccat attatgcatg cccacaggaa agcagaaagc gttctccact tgtgcctccc
     1081 atcttgtggt ggtcaccatt ttctattcag ccattatttt catgtatgct cgacctcgag
     1141 ttatccatgc cttcaacatg aacaaaatta tttccatctt ctatgccatt gtcactcctt
     1201 ctctcaaccc tttcatttat tgcctaagaa accgagaggt caaggaagct ctgaagaaac
     1261 tggcatattg ccaggccagc agatctgact agtcaattac agctgattag aaagaaaggt
     1321 ctgagtgggt gcctgtatgt cttcctccat cctttctcct ttaacgactc agttaggaca
     1381 ctgcccatgt taatatgaca tcaccatgtc tacttcaatc tcaggcgctt gggtatctgc
     1441 atctgtgcat atggtcagtg ctctaaggcc atacaccttc tagagagcta gagaaaacag
     1501 ttctcaatgg ttgtgacccc aaatggggtt tctaagactg tgagtaaatt tataactgag
     1561 ttaagtagga agagagatgg tgatgggtga gttagctgtt tttggatctg ccatacacta
     1621 atagctctgg ggccaacaaa ataggtggta gcttcctgat ttcccatctt tctaagacag
     1681 aggtagcaac tccctcaaca gtctcattct tgatgttctg ggagtgaatt ttggtggcag
     1741 agactgcttc ctgagttttt gcaacacttt ttgcaagcac ttactaacct gtattaaatc
     1801 cctttctgct taaactagtt agagtgcttt cttttatctg taagtgaatt gtaccttaca
     1861 caattgtgtt ttgtcttctg atataactca cacagttgcc ttttattgaa ttttatattt
     1921 cccttctagg tgccacaatg tatcctttag tggatgaaca taaaatagat gataaataaa
     1981 tatcatcaaa tatatgaatt gccaaacaat aattgccctc attacttctc ttttcttttg
     2041 atcttgatat cctcttgttc ccgccccgca ccccccttcc cgccctctct tttatcttct
     2101 cttggttttc cactttctcc acactcaact cagagataag taacaggttt caggaattga
     2161 cagagatttt cattccatgc catagtgatt ctcaactttc cttacctata tatctaacac
     2221 cctctacaca cacgctagaa cctcattgat caaatgtgct ttacacccat agaaggtaca
     2281 tagatatgct tgctcttggt tcatagtttt gccattggca aagggagata tatttttaag
     2341 ctgtattcaa catagtgggc caacatcagt gggaatttaa ttcttttatt gtaacagttt
     2401 taaacaggag agtttcttgc attaataaca tcttttagct aagaacaaac cacactttca
     2461 agaatgcttt ctctttcttc ttaattaaga aacgtgaggc agaattattt gttccatttt
     2521 ataaacttcc agaacagatg ttcaaggaag taaataacat acaaccacag acagtgggag
     2581 agcagaggtc aaagtcccag ttccctgaat ccaaaccctg ggtctttctc tagtgaatgg
     2641 gctctcccta gagagaaaac atacttcttt agaagccaag tatgaaagct agttgtaaag
     2701 gaatatagtt ggaattatga attactatac ctgcagaaca gtaataaaat aaaaatgaaa
     2761 acatgtgaat tataggtccc agaggaaaaa agaaacaaaa ataaaatgca agcacaactt
     2821 gctttaggga ataaatgtgc aaaagagaac aatgcttaaa atggaaagga tttaatgttt
     2881 gcttctggaa tgtagtttgg tcccttgatg caacaagtaa gttgtgatga atatatttct
     2941 atttaaaatc tagacacaca aaaaagagat tattttctga aaacttcaaa tgaatcaaaa
     3001 tataattgca tagtcatata gggatattaa atgtgtgcat taagaaagga aaagacatgt
     3061 tcagtaggga ttaggaaatg aaagataaaa aaactctggc aataacttga attttagccc
     3121 tggatatata ttcaccatgt gaccttggcc aaaccatcta tacttttgga aacactgagt
     3181 ctttatgtgt aaaacaggag taataatagt tgcttggtgt ttcttacgca atggttatga
     3241 ggatcaacta ccatgatgga aaagacattg attgttaaat atcttgggca gtgcatgatc
     3301 taagcaagct gccactagat tagggtttgc atgggaaaac tgtttgggaa ggctatgctc
     3361 tctggacctg tctaaaacaa ttccacacct agttgactcc acatactata gttatagtta
     3421 acctgggagg ctacaactat cagaggcagt ttatttcttt attatttctc atgaatatct
     3481 tggaaaggga gaatgtagaa gtagggtttc ttggggaatt ctattaaatt tttttttcaa
     3541 ataacagatg gaacattgag ctccttcccc tttgtggaag gaatacctaa gtgcacaggc
     3601 tcagcaaagt aaggacacag accaatgtag aaatctgcct caacagagaa aataatgtat
     3661 agtggattac tggttaaatt cacatagaaa caagctattt ctaaggtgac acacaaagca
     3721 agccggaagt ttcagggcat ttggtgatct tgttggggta accatcataa aaggctggta
     3781 gtcagtttca gtagtttatc cagagaacat gccctgaaga tttgattatc accatccaaa
     3841 ctcataagga accccacaaa ataaaatata aatatatatt aattacacat gcagtatata
     3901 ttttaaatca ctatatttat tcattcattt aactaatata tattaaagat ctattatgta
     3961 cgtgtaggga tacaatagca aaatattaaa acttgttacc tttgtgagca gaaacagata
     4021 gcagataata cctttgtgtg tgtgtgtgtg tgtgtgtata catatatata tctaacatac
     4081 atacatattg taatgggttg aatggtggct cccaaaaata tattttcaca ctttcaacct
     4141 ggaacttgtg attgggaact tatttgaaaa aaaaagagtc tttgaaatat aataaagtta
     4201 aggacctcaa actgagacca ttctggatta tccgagtgga ctcaatgtcc aatgacaagt
     4261 tccttatatg agagagaaga gaaaacagag aaggtgatgt gaaggtagag atagagattg
     4321 gagttctgca tccacaagcc aagaaatacc ttgggccacc agaagctgga agatataagt
     4381 aatgattctc cccccctaga gctgtcaaag gaagagagcc ctgatgacag cttgattttg
     4441 gactcctggc ctccagaact ataagacaat atatttctgt tgttttaagc taccaagttt
     4501 gtggtaattt gttataaaaa ccctgggaaa taaatacaca tcccaatttg ggtggcaata
     4561 agtgctatgg atggggagga agaaagcatg aaagtataat aggaagtgct gctggagatg
     4621 agaaatttta aataagatgg tcacagaatc accaagtgag gaagaaatgt ttgagcaaaa
     4681 acctggagaa gctgtgagag taagatatat ggctactttg gcaaagaaca ttccaggtag
     4741 agaaacagca agggaagata tggagtcttg tgtagtatgt ttgagggaca ttgaagagac
     4801 tgagcagcca gagcagtgag aaaagggtaa gcaggtgata tggtctggct ctgtttccct
     4861 acccaaatct catcttgatt gtaatcccca catatcaaaa ggggaacctg gtgggaagtg
     4921 attgcatcat gggggtggtt cccccatgct gttctcatga tagtgagtga gttctcacaa
     4981 gatccgatgg ttttaaaagt gtttggcagt tcccctccca ctttctctct ctctctcttg
     5041 ccgccatgtt agatgtgcct tccttcccct tcgcctcctg ccatgattgt aagtttcctg
     5101 aggcctcccc aaccatgtgg aactgtaagt caattaaacg tttttaaagt aaa
//
LOCUS       NM_001005282             936 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily M member 8
            (OR5M8), mRNA.
ACCESSION   NM_001005282
VERSION     NM_001005282.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 936)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 936)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327216.5/ ENSP00000323354.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065744.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..936
                     /gene="OR5M8"
                     /gene_synonym="OR11-194"
                     /note="olfactory receptor family 5 subfamily M member 8"
                     /db_xref="GeneID:219484"
                     /db_xref="HGNC:HGNC:14846"
     CDS             1..936
                     /gene="OR5M8"
                     /gene_synonym="OR11-194"
                     /note="olfactory receptor OR11-194"
                     /codon_start=1
                     /product="olfactory receptor 5M8"
                     /protein_id="NP_001005282.1"
                     /db_xref="CCDS:CCDS31533.1"
                     /db_xref="GeneID:219484"
                     /db_xref="HGNC:HGNC:14846"
                     /translation="MRRNCTLVTEFILLGLTSRRELQILLFTLFLAIYMVTVAGNLGMI
                     VLIQANAWLHMPMYFFLSHLSFVDLCFSSNVTPKMLEIFLSEKKSISYPACLVQCYLFI
                     ALVHVEIYILAVMAFDRYMAICNPLLYGSRMSKSVCSFLITVPYVYGALTGLMETMWTY
                     NLAFCGPNEINHFYCADPPLIKLACSDTYNKELSMFIVAGWNLSFSLFIICISYLYIFP
                     AILKIRSTEGRQKAFSTCGSHLTAVTIFYATLFFMYLRPPSKESVEQGKMVAVFYTTVI
                     PMLNLIIYSLRNKNVKEALIKELSMKIYFS"
     misc_feature    10..12
                     /gene="OR5M8"
                     /gene_synonym="OR11-194"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGP6.1); glycosylation site"
     misc_feature    73..135
                     /gene="OR5M8"
                     /gene_synonym="OR11-194"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP6.1);
                     transmembrane region"
     misc_feature    160..222
                     /gene="OR5M8"
                     /gene_synonym="OR11-194"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP6.1);
                     transmembrane region"
     misc_feature    295..357
                     /gene="OR5M8"
                     /gene_synonym="OR11-194"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP6.1);
                     transmembrane region"
     misc_feature    415..477
                     /gene="OR5M8"
                     /gene_synonym="OR11-194"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP6.1);
                     transmembrane region"
     misc_feature    586..648
                     /gene="OR5M8"
                     /gene_synonym="OR11-194"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP6.1);
                     transmembrane region"
     misc_feature    709..771
                     /gene="OR5M8"
                     /gene_synonym="OR11-194"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP6.1);
                     transmembrane region"
     misc_feature    811..873
                     /gene="OR5M8"
                     /gene_synonym="OR11-194"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGP6.1);
                     transmembrane region"
ORIGIN
        1 atgagaagaa actgcacgtt ggtgactgag ttcattctcc tgggactgac cagtcgccgg
       61 gaattacaaa ttctcctctt cacgctgttt ctggccattt acatggtcac ggtggcaggg
      121 aaccttggca tgattgtcct catccaggcc aacgcctggc tccacatgcc catgtacttt
      181 ttcctgagcc acttatcctt cgtggatctg tgcttctctt ccaatgtgac tccaaagatg
      241 ctggagattt tcctttcaga gaagaaaagc atttcctatc ctgcctgtct tgtgcagtgt
      301 taccttttta tcgccttggt ccatgttgag atctacatcc tggctgtgat ggcctttgac
      361 cggtacatgg ccatctgcaa ccctctgctt tatggcagca gaatgtccaa gagtgtgtgc
      421 tccttcctca tcacggtgcc ttatgtgtat ggagcgctca ctggcctgat ggagaccatg
      481 tggacctaca acctagcctt ctgtggcccc aatgaaatta atcacttcta ctgtgcggac
      541 ccaccactga ttaagctggc ttgttctgac acctacaaca aggagttgtc aatgtttatt
      601 gtggctggct ggaacctttc tttttctctc ttcatcatat gtatttccta cctttacatt
      661 ttccctgcta ttttaaagat tcgctctaca gagggcaggc aaaaagcttt ttctacctgt
      721 ggctcccatc tgacagctgt cactatattc tatgcaaccc ttttcttcat gtatctcaga
      781 cccccctcaa aggaatctgt tgaacagggt aaaatggtag ctgtatttta taccacagta
      841 atccctatgc tgaaccttat aatttatagc cttagaaata aaaatgtaaa agaagcatta
      901 atcaaagagc tgtcaatgaa gatatacttt tcttaa
//
LOCUS       NM_001005283            3774 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 9 subfamily Q member 2
            (OR9Q2), mRNA.
ACCESSION   NM_001005283
VERSION     NM_001005283.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3774)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641291.1/ ENSP00000492924.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP004247.2.
            On Aug 21, 2020 this sequence version replaced NM_001005283.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..3774
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..3774
                     /gene="OR9Q2"
                     /gene_synonym="OR9Q2P"
                     /note="olfactory receptor family 9 subfamily Q member 2"
                     /db_xref="GeneID:219957"
                     /db_xref="HGNC:HGNC:15328"
     misc_feature    197..199
                     /gene="OR9Q2"
                     /gene_synonym="OR9Q2P"
                     /note="upstream in-frame stop codon"
     CDS             212..1156
                     /gene="OR9Q2"
                     /gene_synonym="OR9Q2P"
                     /note="olfactory receptor, family 9, subfamily Q, member 2
                     pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 9Q2"
                     /protein_id="NP_001005283.1"
                     /db_xref="CCDS:CCDS31544.1"
                     /db_xref="GeneID:219957"
                     /db_xref="HGNC:HGNC:15328"
                     /translation="MAERNYTVVTEFFLTAFTEHLQWRVPLFLIFLSFYLATMLGNTGM
                     ILLIRGDRRLHTPMYFFLSHLSLVDICYSSAIIPQMLAVLWEHGTTISQARCAAQFFLF
                     TFFASIDCYLLAIMAYDRYTAVCQPLLYVTIITEKARWGLVTGAYVAGFFSAFVRTVTA
                     FTLSFCGNNEINFIFCDLPPLLKLSCGDSYTQEVVIIVFALFVMPACILVILVSYLFII
                     VAILQIHSAGGRAKTFSTCASHLTAVALFFGTLIFMYLRDNTGQSSEGDRVVSVLYTVV
                     TPMLNPLIYSLRNKEVKEATRKALSKSKPARRP"
     misc_feature    224..226
                     /gene="OR9Q2"
                     /gene_synonym="OR9Q2P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGE9.1); glycosylation site"
     misc_feature    287..349
                     /gene="OR9Q2"
                     /gene_synonym="OR9Q2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE9.1);
                     transmembrane region"
     misc_feature    374..436
                     /gene="OR9Q2"
                     /gene_synonym="OR9Q2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE9.1);
                     transmembrane region"
     misc_feature    509..571
                     /gene="OR9Q2"
                     /gene_synonym="OR9Q2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE9.1);
                     transmembrane region"
     misc_feature    629..691
                     /gene="OR9Q2"
                     /gene_synonym="OR9Q2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE9.1);
                     transmembrane region"
     misc_feature    803..862
                     /gene="OR9Q2"
                     /gene_synonym="OR9Q2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE9.1);
                     transmembrane region"
     misc_feature    923..985
                     /gene="OR9Q2"
                     /gene_synonym="OR9Q2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE9.1);
                     transmembrane region"
     misc_feature    1025..1087
                     /gene="OR9Q2"
                     /gene_synonym="OR9Q2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE9.1);
                     transmembrane region"
ORIGIN
        1 cagggagaaa ggctggtccc ctagtcttgt tatctcaaat gagctcaata tctgtctata
       61 tctatcttcg actgaaaagt gtgttgaagt tgagtgccga catgtaagac attcaattta
      121 aagctttgtt acttgaaatc atttgaactc ctcttgagct gtcccctcat ctggctcttg
      181 tcttagccgt tgcaggtgaa ccactggatg gatggctgaa aggaattaca ccgtagtgac
      241 ggagttcttc cttactgcat ttactgaaca tctccagtgg agggttcctc tcttcctcat
      301 atttttgagt ttctatcttg ccactatgtt agggaacaca ggcatgatcc tcctgatccg
      361 tggcgatcgt cggctccaca ccccgatgta cttcttcctc agccaccttt ccttggtgga
      421 catctgctac tcgtccgcca tcatccctca gatgctggct gtgctgtggg agcacggcac
      481 aaccatctcc caggctcgct gtgcagctca gttcttcctc ttcaccttct ttgcctccat
      541 cgactgctac cttctggcca tcatggccta tgaccgctac acggccgtgt gccagcccct
      601 gctttatgtc accatcataa ccgagaaggc ccgctggggc ctagtcactg gggcttacgt
      661 tgctggtttt ttcagtgcct ttgttcgaac ggtcacagcc ttcactctct ccttttgtgg
      721 aaacaatgag atcaacttca ttttctgtga cctccctcct ctattaaaac tctcctgtgg
      781 ggacagctac actcaggaag tggtgattat tgtgtttgct cttttcgtca tgcctgcctg
      841 tatcttggtg atcttggtat cctacctgtt tatcattgtg gccatcctgc agatccactc
      901 tgctggaggc cgggccaaga ccttctccac ctgcgcctcc cacctcactg ccgtcgctct
      961 tttctttggc accctcatct tcatgtacct gcgagacaac acaggccagt cctccgaggg
     1021 agaccgagtg gtgtctgtgc tctacacggt ggtgacccca atgctgaatc cccttatcta
     1081 tagcctgaga aacaaggagg taaaagaggc cactaggaaa gccctgagca aatcaaagcc
     1141 tgctagaaga ccctaaatgg acccttgtga aatatatcat tccttagttt ccccatcttt
     1201 tctgtctttt ctcaatagca ccttctggag agactttcct aaataaccct atgcaaaatc
     1261 gcacctgaac ttcccacctc cactttctga tttattattc catgtaatac ttatcatcat
     1321 ctgacatatt agatgttata tgtgtttgac attttctaat gctcacaact agaaagtaag
     1381 caacatgaga gcaaatactt ttttatctga gcttcatttc tatatgtcca gttcctagca
     1441 aagcacctag catgtgaaag gcactcaata aatatttgtt gagtgaatga atctcaggtt
     1501 ccattgtcta cttttaagtt gtaatttctt cagtcatcag ttttcttatc tgtcaagtag
     1561 atttatctac cttataggac tatggttttg aggatccaat gcataaatgg acaaggatcg
     1621 cctctgtctt attcactagt atctgcagaa cacagtgcat tgcccaacac aataaatact
     1681 tgatgagtga agcaagaata tttggaaaat tataaagcag tctacaaata caactgctgt
     1741 tttgatccaa aggtattttc caaattttgt catttattca tttattcttt ctttttttat
     1801 cttcttgttt ctgtgatttt tgaataacaa tgaggaaaat aataataata ataataataa
     1861 taataatagc aagttacact tattaggcat tattatcttc caggacttac aataagtttg
     1921 ctacaggaat tatttgattt aatttacagg acatccctat gaggtaggtt ctattattat
     1981 ctctgcttta taggtaggtg aggcacttga ggcttagaga tgttgagtaa tattctcaag
     2041 gtcggcaagc aagtagttgg gtggggcttc cacccagcta ggcctgagct cctatcggac
     2101 acacacactg ttgctagctg taatctattg cctattctat ataatcactc aaccggaatt
     2161 tattgttatt gctcttttct ttttcctttt atctggtgaa gaaaaggtaa aagtccaatc
     2221 tgttggtgta gatggcagtc aacaaaattc attttatagc ccctatgttc taggattgta
     2281 taatgtgact ttgtgtatat atgtgtgtgt gtgtgtatag ttgtgcatga taaagtgaag
     2341 tgtgtaaaca gcaacttctg aatttgagga atgtttgttt taaggagata taataaatat
     2401 tttagaaagg agatggctgg gcatatttag gaaaaggtat agggaaaaaa tgaacaccta
     2461 tggccaagag gtttgggatc atatatcagc tctggtagaa atcatttaaa aactgcagat
     2521 tggggtgaag gaataccaca gaatgcctct tgatgttcat tttccaaata ttaactgtca
     2581 tgcaaatatt ttcagagcac accaacatct gtggtgggtg ttagacatat ttgtgttgtg
     2641 gaaagaactc agaacttggc accaaagtgt ccagtctgcc acttcttagc agtgtggctt
     2701 cagattaatt agtgcctttc agcctgcttc tcctctgtga aataatactt actaagcact
     2761 tactctggga catgatttac atgtatctca tttattctca caataacttg gtatatttgg
     2821 ataattggaa ggcattcggt aatattataa acattattta gtgttattaa ttactgttat
     2881 taattcatgt tagtatggtg cttgtccagg ctccacagcc tagtgagtag tgatgggcag
     2941 agggacccat agctgatctc tgggcctctt tattgaagaa ctgtctggaa cagtccctcc
     3001 tgggcccaga ttagctctaa acctggacat ttccaggagt caagttctca aataattttt
     3061 taacttaatt cttaagctag tgcacactta ccatatccta ggtacaatgc taaaagcttt
     3121 acatgaatcc tttattttag ccctcctaac aatgttaatg aaaagtaatt tttattgacc
     3181 ccatttagca aaacaaaaaa gaaaatctaa gactcagaga tattatgtga cttgaccaag
     3241 ttatgtagca agaaagtggc agatgaggga ggttctgttc tcaggtctct gactccaaag
     3301 tacatactct tatctgataa ctgcccttct gcactctttc ttctccttct cccaggccct
     3361 agttcctggt tatagtttgc ttcagaggtt atctggattt cagttgcatt cttgatctcc
     3421 atgtttggta ggtgtgggct gagatgggtg agtttgatgg actcacatta ttgtgaagtt
     3481 catggaactc attttggccc tcttgtaggc caatgaggag agtctggggg aatctataac
     3541 tccctcagaa agagcagggt gggctcaggt aaagtattgc cttcaaagcc cttccagaat
     3601 atctcttggc tcagagtgct tcaataaata gttaatcggc ttagtgcctc caagcaggca
     3661 ctaaccttcc cttcgggtct tctttttcag tcttaagtga ttacctaagg aattaaatat
     3721 tcctttccaa acactgatta ttgttattta ttactattag catttacaaa tatg
//
LOCUS       NM_001005284            2608 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 9 subfamily G member 4
            (OR9G4), transcript variant 1, mRNA.
ACCESSION   NM_001005284
VERSION     NM_001005284.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2608)
  AUTHORS   Yang Q, Kathiresan S, Lin JP, Tofler GH and O'Donnell CJ.
  TITLE     Genome-wide association and linkage analyses of hemostatic factors
            and hematological phenotypes in the Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S12 (2007)
   PUBMED   17903294
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2608)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 2608)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641668.1/ ENSP00000493182.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001803.4.
            On Jan 13, 2021 this sequence version replaced NM_001005284.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2608
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..2608
                     /gene="OR9G4"
                     /gene_synonym="OR11-216"
                     /note="olfactory receptor family 9 subfamily G member 4"
                     /db_xref="GeneID:283189"
                     /db_xref="HGNC:HGNC:15322"
     misc_feature    11..13
                     /gene="OR9G4"
                     /gene_synonym="OR11-216"
                     /note="upstream in-frame stop codon"
     CDS             65..1003
                     /gene="OR9G4"
                     /gene_synonym="OR11-216"
                     /note="isoform 1 is encoded by transcript variant 1;
                     olfactory receptor 9G4; olfactory receptor OR11-216"
                     /codon_start=1
                     /product="olfactory receptor 9G4 isoform 1"
                     /protein_id="NP_001005284.2"
                     /db_xref="CCDS:CCDS31537.2"
                     /db_xref="GeneID:283189"
                     /db_xref="HGNC:HGNC:15322"
                     /translation="MEVGNCTILTEFILLGFSADSQWQPILFGVFLMLYLITLSGNMTL
                     VILIRTDSHLHTPMYFFIGNLSFLDFWYTSVYTPKILASCVSEDKRISLAGCGAQLFFS
                     CVVAYTECYLLAAMAYDRHAAICNPLLYSGTMSTALCTGLVAGSYIGGFLNAIAHTANT
                     FRLHFCGKNIIDHFFCDAPPLVKMSCTNTRVYEKVLLGVVGFTVLSSILAILISYVNIL
                     LAILRIHSASGRHKAFSTCASHLISVMLFYGSLLFMYSRPSSTYSLERDKVAALFYTVI
                     NPLLNPLIYSLRNKDIKEAFRKATQTIQPQT"
ORIGIN
        1 gggaaaagtg tgacttccaa gagctggcct tccaaaccaa ggtcaggctt tcacctccgt
       61 ggacatggaa gtgggaaatt gcaccatcct gactgaattc atcttgttgg gtttctcagc
      121 agattcccag tggcagccga ttctatttgg agtgtttctg atgctctatt tgataacctt
      181 gtcaggaaac atgaccttgg ttatcttaat ccgaactgat tcccacttgc atacacctat
      241 gtactttttc attggcaatc tgtctttttt ggatttctgg tatacctctg tgtatacccc
      301 caaaatcctg gccagttgtg tctcagaaga taagcgcatt tccttggctg gatgtggggc
      361 tcagctgttt ttttcctgtg ttgtagccta cactgaatgc tatctcctgg cagccatggc
      421 atatgaccgc catgcagcaa tttgtaaccc attgctttat tcaggtacca tgtccaccgc
      481 cctctgtact gggcttgttg ctggctccta cataggagga tttttgaatg ccatagccca
      541 tactgccaat acattccgcc tgcatttttg tggtaaaaat atcattgacc actttttctg
      601 tgatgcacca ccattggtaa aaatgtcctg tacaaacacc agggtctacg aaaaagtcct
      661 gcttggtgtg gtgggcttca cagtactctc cagcattctt gctatcctga tttcctatgt
      721 caacatcctc ctggctatcc tgagaatcca ctcagcttca ggaagacaca aggcattctc
      781 cacctgtgct tcccacctca tctcagtcat gctcttctat ggatcattgt tgtttatgta
      841 ttcaaggcct agttccacct actccctaga gagggacaaa gtagctgctc tgttctacac
      901 cgtgatcaac ccactgctca accctctcat ctatagcctg agaaacaaag atatcaaaga
      961 ggccttcagg aaagcaacac agactataca accacaaaca tgaaggttat tctctttgca
     1021 aatgctgtta ttgaattttc cagattattg gcttataaat gtgttcattt gcatttctgt
     1081 agttcaatta agttcaataa gtcatattta aaacattaaa atattgacca catgactcct
     1141 tgttattcgt ttgttatgat gtaaacaaaa caaagtaata tttaaaactt ataatattgg
     1201 gttgtttggc attctgcaat atggtatttt gccttggcag cattaaatct ttcatagatt
     1261 tcattgtgtt tgctcccttt gggagatctt ggggaacaaa ataaattacg tgggttaatg
     1321 aatatagttt gactttgaag tttggtaagc aatctttact aggtgacaag aatatctgaa
     1381 agggtgaggc ttctggaaat atgctcaaga ttttacaaat atttatttta agaaaatcat
     1441 ttcctcaaaa tttcttcaga aagctctaat tgagcatata gggagtatct ttgtaaaact
     1501 catgccttct acataaagag aatattagga agatgtttaa gagttgttca gattacaaac
     1561 aacaatgaca acaaaaaact atctcaaaat taatgaataa atatgtgtct ttagaattgc
     1621 atatcatcct aacagtcttc tctcttacaa ggagtgagta ctccgcagta ctctctctca
     1681 ggtcacacag cgatgtgaca acatcaaacg aaataaaaca aatgaacaac aatagtaacc
     1741 actgttccct agttaccttt ctctttcctt tgtcctgacc aaaagacata agctgcatgt
     1801 ttgtccctgg cctgaaccta gcctgggcct tgaacattcc taagaactgg taaacttgtt
     1861 tagatcgatg cctgaaaccc tgaaaaatca aacatgttgc taaccacatg gaaactagcc
     1921 ttggcctcga gcccaattcc ctaaaccctg atataaactc cataactgaa cccccttgtg
     1981 atggcaggtt gggttgatat ttcatttagt agcctttaga agatggcaag ttaaggatta
     2041 atggttacaa ttttcaaatc acaagcttgc agctcagagg ttagcaactt tgttgaggaa
     2101 aggttataac atttgctgga attagcacat ttaaaaaatt aattaaattt tgaaaattta
     2161 ggacaaatag ttgtagccat ttcatttgtc tttacttgac atttctcaac tttctcttca
     2221 gctgcattta ttttccaaca catcctacct ctttccatca aaataatctt aacattctta
     2281 ttcctctatc acaaaggaag ctgtttgagt acttgactag aaggatttgg ggtgtatccc
     2341 gcaaatatca atgatccata ttatgttttc ttttcatctc cataatagtc actatgtagg
     2401 aaaaataatt gggtcaatat tatgggaaag aacatcgtaa aaatttaatt tcactttagg
     2461 atatcagaat aattactttt ccattttgca ttaatcggag atactgaatt ttaaaaactg
     2521 tatcagtatt caattgaatc tacaatactg tagtatatat tatagtctga tctcaaaatc
     2581 ataacaaaca aacgaaacac aaagaaac
//
LOCUS       NM_001005286            1762 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily F member 1
            (OR6F1), mRNA.
ACCESSION   NM_001005286
VERSION     NM_001005286.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1762)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 1762)
  AUTHORS   Gilad Y, Bustamante CD, Lancet D and Paabo S.
  TITLE     Natural selection on the olfactory receptor gene family in humans
            and chimpanzees
  JOURNAL   Am J Hum Genet 73 (3), 489-501 (2003)
   PUBMED   12908129
REFERENCE   3  (bases 1 to 1762)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641470.1/ ENSP00000493342.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC118470.2.
            On Jul 29, 2020 this sequence version replaced NM_001005286.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1762
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..1762
                     /gene="OR6F1"
                     /gene_synonym="OR1-34; OR1-38; OST731"
                     /note="olfactory receptor family 6 subfamily F member 1"
                     /db_xref="GeneID:343169"
                     /db_xref="HGNC:HGNC:15027"
     misc_feature    377..379
                     /gene="OR6F1"
                     /gene_synonym="OR1-34; OR1-38; OST731"
                     /note="upstream in-frame stop codon"
     CDS             443..1369
                     /gene="OR6F1"
                     /gene_synonym="OR1-34; OR1-38; OST731"
                     /note="olfactory receptor OR1-34 pseudogene; olfactory
                     receptor OR1-38"
                     /codon_start=1
                     /product="olfactory receptor 6F1"
                     /protein_id="NP_001005286.1"
                     /db_xref="CCDS:CCDS31095.1"
                     /db_xref="GeneID:343169"
                     /db_xref="HGNC:HGNC:15027"
                     /translation="MDTGNKTLPQDFLLLGFPGSQTLQLSLFMLFLVMYILTVSGNVAI
                     LMLVSTSHQLHTPMYFFLSNLSFLEIWYTTAAVPKALAILLGRSQTISFTSCLLQMYFV
                     FSLGCTEYFLLAAMAYDRCLAICYPLHYGAIMSSLLSAQLALGSWVCGFVAIAVPTALI
                     SGLSFCGPRAINHFFCDIAPWIALACTNTQAVELVAFVIAVVVILSSCLITFVSYVYII
                     STILRIPSASGRSKAFSTCSSHLTVVLIWYGSTVFLHVRTSIKDALDLIKAVHVLNTVV
                     TPVLNPFIYTLRNKEVRETLLKKWKGK"
     misc_feature    455..457
                     /gene="OR6F1"
                     /gene_synonym="OR1-34; OR1-38; OST731"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGZ6.1); glycosylation site"
     misc_feature    518..580
                     /gene="OR6F1"
                     /gene_synonym="OR1-34; OR1-38; OST731"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ6.1);
                     transmembrane region"
     misc_feature    605..667
                     /gene="OR6F1"
                     /gene_synonym="OR1-34; OR1-38; OST731"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ6.1);
                     transmembrane region"
     misc_feature    740..802
                     /gene="OR6F1"
                     /gene_synonym="OR1-34; OR1-38; OST731"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ6.1);
                     transmembrane region"
     misc_feature    860..922
                     /gene="OR6F1"
                     /gene_synonym="OR1-34; OR1-38; OST731"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ6.1);
                     transmembrane region"
     misc_feature    1034..1093
                     /gene="OR6F1"
                     /gene_synonym="OR1-34; OR1-38; OST731"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ6.1);
                     transmembrane region"
     misc_feature    1154..1216
                     /gene="OR6F1"
                     /gene_synonym="OR1-34; OR1-38; OST731"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ6.1);
                     transmembrane region"
     misc_feature    1256..1318
                     /gene="OR6F1"
                     /gene_synonym="OR1-34; OR1-38; OST731"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ6.1);
                     transmembrane region"
     regulatory      1640..1645
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR6F1"
                     /gene_synonym="OR1-34; OR1-38; OST731"
                     /note="hexamer: AATAAA"
     polyA_site      1665
                     /gene="OR6F1"
                     /gene_synonym="OR1-34; OR1-38; OST731"
                     /note="major polyA site"
ORIGIN
        1 aaaacaacaa aagggaagtg gaatggaact aggacagaat ggggtcagag cataagaaca
       61 aaaggaaaca gaaaaagact gagctctaat ttcaaagatt atgaaagttt gagttaataa
      121 aggagtaatg gatgtcaacc gaaggaagca cactattaaa cagcaagata atcaaagaaa
      181 aacagagata tagagggaat aattgcaatc aaaatatatt atttttaaat aaagaaaatc
      241 atggaataaa aaatgagtaa aagtaaggtc aagagacaaa gcttttggag tttatggcag
      301 aaagaatttc aactgggtga ttcatgtgcc cattagagct tgagaagcac tgcttggaag
      361 ccccttctgc catcaatgag gactgtgtga ttgggttaaa gggctcagtg cggggactct
      421 gttttctggt ttcagtacca caatggacac aggcaacaaa actctgcccc aggactttct
      481 cttactgggc tttcctggtt ctcaaactct tcagctctct ctctttatgc tttttctggt
      541 gatgtacatc ctcacagtta gtggtaatgt ggctatcttg atgttggtga gcacctccca
      601 tcagttgcat acccccatgt acttctttct gagcaacctc tccttcctgg agatttggta
      661 taccacagca gcagtgccca aagcactggc catcctactg gggagaagtc agaccatatc
      721 atttacaagc tgtcttttgc agatgtactt tgttttctca ttaggctgca cagagtactt
      781 cctcctggca gccatggctt atgaccgctg tcttgccatc tgctatcctt tacactacgg
      841 agccatcatg agtagcctgc tctcagcgca gctggccctg ggctcctggg tgtgtggttt
      901 cgtggccatt gcagtgccca cagccctcat cagtggcctg tccttctgtg gcccccgtgc
      961 catcaaccac ttcttctgtg acattgcacc ctggattgcc ctggcctgca ccaacacaca
     1021 ggcagtagag cttgtggcct ttgtgattgc tgttgtggtt atcctgagtt catgcctcat
     1081 cacctttgtc tcctatgtgt acatcatcag caccatcctc aggatcccct ctgccagtgg
     1141 ccggagcaaa gccttctcca cgtgctcctc gcatctcacc gtggtgctca tttggtatgg
     1201 gtccacagtt ttccttcacg tccgcacctc tatcaaagat gccttggatc tgatcaaagc
     1261 tgtccacgtc ctgaacactg tggtgactcc agttttaaac cccttcatct atacgcttcg
     1321 taataaggaa gtaagagaga ctctgctgaa gaaatggaag ggaaaataaa tctcctctac
     1381 cacaacagat gtcctgtaaa tggtctctgc atctatacag aggttccaag taagaatgtg
     1441 gaggaatagg gcaaatcttt cttggtacac agagaaaaaa caaacaaaca aaacaagcaa
     1501 tactgtattt tctatacatt atcatgtatg ataaaaatgg gagtttttga cataagcaaa
     1561 tgggattttt aagcaaaaaa taattataca ttgaattagg tttgctctgg actttggttt
     1621 ataaattaga gacatctgca ataaaaagag tgctttggta tatcagctct aaattcttgt
     1681 ttctttttaa agattagcaa aattgtctta gtataaaata ttgagaacta catttgtgga
     1741 acacgaggga agagaaatag gc
//
LOCUS       NM_001005287            4746 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily A member 1
            (OR2A1), mRNA.
ACCESSION   NM_001005287
VERSION     NM_001005287.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4746)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 4746)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641044.2/ ENSP00000493454.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC074386.6.
            On Jul 21, 2020 this sequence version replaced NM_001005287.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..4746
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q35"
     gene            1..4746
                     /gene="OR2A1"
                     /note="olfactory receptor family 2 subfamily A member 1"
                     /db_xref="GeneID:346528"
                     /db_xref="HGNC:HGNC:8229"
     misc_feature    86..88
                     /gene="OR2A1"
                     /note="upstream in-frame stop codon"
     CDS             134..1066
                     /gene="OR2A1"
                     /note="olfactory receptor OR7-16; olfactory receptor
                     OR7-19"
                     /codon_start=1
                     /product="olfactory receptor 2A1/2A42"
                     /protein_id="NP_001005287.1"
                     /db_xref="CCDS:CCDS43673.1"
                     /db_xref="GeneID:346528"
                     /db_xref="HGNC:HGNC:8229"
                     /translation="MGENQTMVTEFLLLGFLLGPRIQMLLFGLFSLFYIFTLLGNGAIL
                     GLISLDSRLHTPMYFFLSHLAVVDIAYTRNTVPQMLANLLHPAKPISFAGCMTQTFLCL
                     SFGHSECLLLVLMSYDRYVAICHPLRYSVIMTWRVCITLAVTSWTCGSLLALAHVVLIL
                     RLPFSGPHEINHFFCEILSVLRLACADTWLNQVVIFAACVFFLVGPPSLVLVSYSHILA
                     AILRIQSGEGRRKAFSTCSSHLCVVGLFFGSAIIMYMAPKSRHPEEQQKVFFLFYSFFN
                     PTLNPLIYSLRNGEVKGALRRALGKESHS"
     misc_feature    143..145
                     /gene="OR2A1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGT9.2); glycosylation site"
     misc_feature    206..277
                     /gene="OR2A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT9.2);
                     transmembrane region"
     misc_feature    302..367
                     /gene="OR2A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT9.2);
                     transmembrane region"
     misc_feature    431..490
                     /gene="OR2A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT9.2);
                     transmembrane region"
     misc_feature    548..604
                     /gene="OR2A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT9.2);
                     transmembrane region"
     misc_feature    719..787
                     /gene="OR2A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT9.2);
                     transmembrane region"
     misc_feature    839..907
                     /gene="OR2A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT9.2);
                     transmembrane region"
     misc_feature    947..1006
                     /gene="OR2A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGT9.2);
                     transmembrane region"
     regulatory      4722..4727
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR2A1"
                     /note="hexamer: AATAAA"
     polyA_site      4746
                     /gene="OR2A1"
                     /note="major polyA site"
ORIGIN
        1 ctcttctgag atccttgagt ccaaatgtgg gagctaacca ggctgcctct ttttacttta
       61 ccatgaattc ctcctagaca tgttgtagct cctggtcttg gttaactttc acatccacta
      121 caaacattgg gaaatggggg aaaatcagac aatggtcaca gagttcctcc tactgggatt
      181 tctcctgggc ccaaggattc agatgctcct ctttgggctc ttctccctgt tctatatctt
      241 caccctgctg gggaacgggg ccatcctggg gctcatctca ctggactcca gactccacac
      301 ccccatgtac ttcttcctct cacacctggc tgtcgtcgac atcgcctaca cccgcaacac
      361 ggtgccccag atgctggcga acctcctgca tccagccaag cccatctcct ttgctggctg
      421 catgacgcag acctttctct gtttgagttt tggacacagc gaatgtctcc tgctggtgct
      481 gatgtcctac gatcgttacg tggccatctg ccaccctctc cgatactccg tcatcatgac
      541 ctggagagtc tgcatcaccc tggccgtcac ttcctggacg tgtggctccc tcctggctct
      601 ggcccatgtg gttctcatcc taagactgcc cttctctggg cctcatgaaa tcaaccactt
      661 cttctgtgaa atcctgtctg tcctcaggct ggcctgtgct gacacctggc tcaaccaggt
      721 ggtcatcttt gcagcctgcg tgttcttcct ggtggggcca cccagcctgg tgcttgtctc
      781 ctactcgcac atcctggcgg ccatcctgag gatccagtct ggggagggcc gcagaaaggc
      841 cttctccacc tgctcctccc acctctgcgt ggtgggactc ttctttggca gtgccatcat
      901 catgtacatg gcccccaagt cccgccatcc tgaggagcag caaaaggtct tttttctatt
      961 ttacagtttt ttcaacccaa cacttaaccc cctgatttac agcctgagga acggagaggt
     1021 caagggtgcc ctgaggagag cactgggcaa ggaaagtcat tcctaactgg tgtgacattt
     1081 gactctccct cctcagtcat ctcctggaat cttggtacca aataccacct aagttcacta
     1141 ctctctttat atctgagact gaatgaacca agagactctg caaagcattc ctttttcctg
     1201 cctgggaagt atttagtttt tgatgcattt gttatactta acatttttta atttaagcac
     1261 ttattgagtt gagaatgtcg gggaaagatt tattttgtac actgctatga gtccagaagt
     1321 ttaaaacaga cactccacct gtgacttagt caggtatgct cagtagtaga ggaatagcag
     1381 ttattaccag ataaagtcat atctataaaa agtttttaaa aatacagcca caggcagaga
     1441 ctccagaacc cattgatacc tctgtccatt ttcatcctca tttggatgtt tcccctcaat
     1501 tgtacttcct ttcttataag cagtaaatgt acctaagtgc ctacttcagc ttggagggaa
     1561 attgattttt ataaaatcct acaaactgac aatttctgtt gtcagagaga gtgaatccat
     1621 aaacattcag ctggcaatct gaagcaatta cacaacaaaa tccactttcc aacctgccct
     1681 gagactgtga tggtcacttg tttctactct tctcacctcc tccaggggac tgtctatgat
     1741 tgtctctaaa taagcacatg ctcttcactt agaggaagtt agtaccacca cacaactttt
     1801 cactgctggg gacgaatgga aagccccaca cagagacaat tcaatggaaa aaagcgtttt
     1861 aataataatg ttaatagtta gcattattat aaattactct gcaccatcca ctgcacattg
     1921 ataggtactt tatagagata acctcagttt atcattatag ccaattcatt tcccattatt
     1981 atcccatttt atagatgtga acttcaagca gatggtaaat gttagactca tacccaaaca
     2041 atctggctcc caagccttct ttacttaacc aggacaatgt gggactttat tagcaacatt
     2101 tcaaattaag aataagtcta accaatccta acgtaggata tgttaagtga atgtgggttt
     2161 cttccccatc tagaatgtgc catgatgagg ccaggagagt cagagattat ttatggaagg
     2221 cttcttatcc tgtttgacga gtcctgtggg catggctgca aaggaggtta agagattcag
     2281 aggaacacag aacacagaca gggtgggagt agaggctgtt ctcaatgaga ttagagagta
     2341 agtttagaac tatacttggt tctgggtggt aagatccaga acaaagacat ctctagttca
     2401 catacaacac tcacatgctc acgtacatgc gtgtgcacac acacacacac acacacacat
     2461 atacgcacag tgcttagtga agcactattc caagaacctt acaagtaaga gctctttaag
     2521 tcctcataaa aaccctatga ggtagagact attactacta tttttaggcg agaaaacaga
     2581 actatagaga gattatataa tttaaccaat gctcccagct aataagtacc tagtccagaa
     2641 tcaaacttag gcaatatgac tgctgaaccc ataatcgtaa ccattatata aaaatcaaag
     2701 agatcatgaa atttccaaag atgaagagga ggagagatga aaagcaattt tcaatctcta
     2761 gccaaagata ggcattgggc tccagacaga aaagtactta aagctggggg aaaaacaaac
     2821 aaacaaacaa acaaacaaac aaaaaacagc tttttttata ctggtgcgtg aaatgagatg
     2881 aggtggtagc aagaaggaac tgtgactcca agggtcagag acggaggagg agcctcttga
     2941 cgggcaggat ggtgaaacca aaaacaatgg ataaaacttt taagttgatg gttcatcaat
     3001 tgaagaacat tagaaagtgt ttttgtaaat tatctagccg ggcatggcaa cgtgtgccta
     3061 tatccccagc tattcgggag gctgaggcaa gaggatcact tgagccaggg attttgaggc
     3121 tgcagtgagc catgatcgca ccactgcatt ccagcctggg tgacagagtg agaccttgtg
     3181 tccaacaata ataaaaatga aataatttat taaatttttt aaaattaccc aaactggata
     3241 tacaatttgt aattccattg ctgccgaaca gtttttaaac ggttgtttag tttcacggca
     3301 gatgctgcat actgcattgc aactaacact gggaagggat acattcaagt ggcaggacaa
     3361 aggtgaggag ctctaatacc aggggtaggt ttcaagggat gaatactccc ctggtaccag
     3421 aggagcagca ggaaatcatg gtgtgcagaa accatgctca ggcggttgcc tgtgtggacc
     3481 ctaaattctg tgtgtgcagt cctctcttag gattggccca ggcatccaag aagcccacga
     3541 tgctgcctac cccttaaata cacaaggtgc gtaccggagg ccctggttct agttccagat
     3601 gtaccatttg ctagctgtgt tttttgcaga gaagtccctt aaactgctta agcttcagtc
     3661 cttcatctga aaattatgca tatggaagct gtttaggaca ccacagagtg ccactgaaaa
     3721 cccaaagcaa gatgcaaatg gacacatttt ttttctgaag acttaaaagt gctatgtgaa
     3781 cataagataa actgttatga ttaccctgct gtcagaagtt attttaatcc tgtcagggtt
     3841 gctaaacttt ctgatctgga accaaaattg ctctttaaac aggaagagca ttggtgctgg
     3901 taggtcacct acgcctttgc cctcatggct tccccttgtc ccccctagag gcacaggagg
     3961 ccactcactc ttggagggca tagctggacc aggagcatga gctgtggccc agactcaggg
     4021 aacctctgtg agtcagctgg caaaggctcc cggggagcct gtctctgaat ctggtcctag
     4081 cccgttcact tggaaaaaac aggagacttc tcccaaggtc aaggaattca gattttggtt
     4141 ttggtttcca actttttgta atcctcaacc tgggatttac agtgcatgtc tcaattatgt
     4201 ttcattcatt gcttcacaaa gggaaggaca agcactggtt catctcttta cacctataca
     4261 ttcctagcac agagtgagta ctcacaaaaa acatacggaa tacatagagg acactttatc
     4321 tgttgacccc atttccaaat tttcagtgtt gagccatctt ctgatttcta aacttcttta
     4381 aatccctcta attttaggtt atactacagt agaaatttaa ttgtagctga taattattga
     4441 gcacttacta tgtggttggc actgcataaa atgctttaga aaaattctta catcaaatat
     4501 gtggagtagg tactaatact atcctaacat taaagggggg gaaataaagt ttagtgtaat
     4561 taattaattt attcaaggtc gccaaatcat tcagtggtag aaacatgaat caagaccagg
     4621 cagtctgact gtaaataaat tctgagccac tctcttgcag aggacctcct gatattcatc
     4681 tcctgaatgg ttggcaacag gcctgttcat agtagacaca caataaactt tgactaaatg
     4741 aacaaa
//
LOCUS       NM_001005288             945 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily I member 1
            (OR51I1), mRNA.
ACCESSION   NM_001005288
VERSION     NM_001005288.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 945)
  AUTHORS   Milton JN, Rooks H, Drasar E, McCabe EL, Baldwin CT, Melista E,
            Gordeuk VR, Nouraie M, Kato GR, Minniti C, Taylor J, Campbell A,
            Luchtman-Jones L, Rana S, Castro O, Zhang Y, Thein SL, Sebastiani P,
            Gladwin MT and Steinberg MH.
  CONSRTM   Walk-PHAAST Investigators
  TITLE     Genetic determinants of haemolysis in sickle cell anaemia
  JOURNAL   Br J Haematol 161 (2), 270-278 (2013)
   PUBMED   23406172
  REMARK    Erratum:[Br J Haematol. 2014 Aug;166(3):468. Kato, Gregory R
            [corrected to Kata, Gregory J]]
REFERENCE   2  (bases 1 to 945)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 945)
  AUTHORS   Bulger M, Bender MA, van Doorninck JH, Wertman B, Farrell CM,
            Felsenfeld G, Groudine M and Hardison R.
  TITLE     Comparative structural and functional analysis of the olfactory
            receptor genes flanking the human and mouse beta-globin gene
            clusters
  JOURNAL   Proc Natl Acad Sci U S A 97 (26), 14560-14565 (2000)
   PUBMED   11121057
REFERENCE   4  (bases 1 to 945)
  AUTHORS   Bulger M, van Doorninck JH, Saitoh N, Telling A, Farrell C, Bender
            MA, Felsenfeld G, Axel R and Groudine M.
  TITLE     Conservation of sequence and structure flanking the mouse and human
            beta-globin loci: the beta-globin genes are embedded within an array
            of odorant receptor genes
  JOURNAL   Proc Natl Acad Sci U S A 96 (9), 5129-5134 (1999)
   PUBMED   10220430
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1999 Jul 6;96(14):8307. von
            Doorninck JH [corrected to van Doorninck JH]]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC151148.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000380211.1/ ENSP00000369559.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC087380.3.
            On Nov 18, 2020 this sequence version replaced NM_001005288.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..945
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..945
                     /gene="OR51I1"
                     /note="olfactory receptor family 51 subfamily I member 1"
                     /db_xref="GeneID:390063"
                     /db_xref="HGNC:HGNC:15200"
     CDS             1..945
                     /gene="OR51I1"
                     /note="olfactory receptor OR11-39; HOR5'Beta11; odorant
                     receptor HOR5'beta11"
                     /codon_start=1
                     /product="olfactory receptor 51I1"
                     /protein_id="NP_001005288.1"
                     /db_xref="CCDS:CCDS31382.1"
                     /db_xref="GeneID:390063"
                     /db_xref="HGNC:HGNC:15200"
                     /translation="MLGLNGTPFQPATLQLTGIPGIQTGLTWVALIFCILYMISIVGNL
                     SILTLVFWEPALHQPMYYFLSMLALNDLGVSFSTLPTVISTFCFNYNHVAFNACLVQMF
                     FIHTFSFMESGILLAMSLDRFVAICYPLRYVTVLTHNRILAMGLGILTKSFTTLFPFPF
                     VVKRLPFCKGNVLHHSYCLHPDLMKVACGDIHVNNIYGLLVIIFTYGMDSTFILLSYAL
                     ILRAMLVIISQEQRLKALNTCMSHICAVLAFYVPIIAVSMIHRFWKSAPPVVHVMMSNV
                     YLFVPPMLNPIIYSVKTKEIRKGILKFFHKSQA"
     misc_feature    82..144
                     /gene="OR51I1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H343.1);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR51I1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H343.1);
                     transmembrane region"
     misc_feature    304..366
                     /gene="OR51I1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H343.1);
                     transmembrane region"
     misc_feature    424..486
                     /gene="OR51I1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H343.1);
                     transmembrane region"
     misc_feature    595..657
                     /gene="OR51I1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H343.1);
                     transmembrane region"
     misc_feature    718..780
                     /gene="OR51I1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H343.1);
                     transmembrane region"
     misc_feature    826..888
                     /gene="OR51I1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H343.1);
                     transmembrane region"
ORIGIN
        1 atgctgggtc tcaatggcac ccccttccag ccagcaacac tccagctgac aggcattcct
       61 gggatacaaa caggcctcac ctgggttgcc ctgattttct gcatcctcta catgatctcc
      121 attgtaggta acctcagcat tctcactctg gtgttttggg agcctgctct gcatcagccc
      181 atgtactact tcctctctat gctcgctctc aatgatctgg gagtgtcctt ttctacactt
      241 cccactgtga tttctacttt ctgcttcaac tacaaccatg ttgcgtttaa tgcttgcctg
      301 gtccagatgt tcttcatcca cactttctcc ttcatggagt caggcatact gctggccatg
      361 agcttggatc gctttgtggc tatttgttat ccattacgct atgtcactgt gctcactcac
      421 aaccgtatat tggctatggg tctgggcatc cttaccaaga gtttcaccac tctcttccct
      481 ttcccttttg tggtgaaacg actgcccttc tgcaaaggca atgttttgca tcactcctac
      541 tgtctccatc cagatctcat gaaagtagca tgtggagaca tccatgttaa caacatttat
      601 gggctcttgg tgatcatttt tacctatggt atggactcaa ctttcatcct gctttcctac
      661 gcattgatcc tgagagccat gctggtcatc atatcccagg aacagcggct caaggcactc
      721 aacacctgca tgtcacacat ctgtgcagtg ctggcctttt atgtgcccat aattgctgtc
      781 tccatgattc accgcttctg gaaaagtgct ccacctgttg ttcatgtcat gatgtccaat
      841 gtctacctgt ttgtaccacc catgctcaac cctatcatct acagtgtgaa aaccaaggag
      901 atccgcaaag ggattctcaa gttcttccat aaatcccagg cctga
//
LOCUS       NM_001005289            1064 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 52 subfamily H member 1
            (OR52H1), mRNA.
ACCESSION   NM_001005289
VERSION     NM_001005289.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1064)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000322653.7/ ENSP00000326259.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC087380.3.
            On Nov 19, 2020 this sequence version replaced NM_001005289.4.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1064
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1064
                     /gene="OR52H1"
                     /gene_synonym="OR11-41; OR11-45"
                     /note="olfactory receptor family 52 subfamily H member 1"
                     /db_xref="GeneID:390067"
                     /db_xref="HGNC:HGNC:15218"
     misc_feature    102..104
                     /gene="OR52H1"
                     /gene_synonym="OR11-41; OR11-45"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MPSASA"
     CDS             120..1064
                     /gene="OR52H1"
                     /gene_synonym="OR11-41; OR11-45"
                     /note="olfactory receptor OR11-45; olfactory receptor
                     OR11-41 pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 52H1"
                     /protein_id="NP_001005289.2"
                     /db_xref="CCDS:CCDS31386.2"
                     /db_xref="GeneID:390067"
                     /db_xref="HGNC:HGNC:15218"
                     /translation="MIIFNLSSYNPGPFILVGIPGLEQFHVWIGIPFCIIYIVAVVGNC
                     ILLYLIVVEHSLHEPMFFFLSMLAMTDLILSTAGVPKALSIFWLGAREITFPGCLTQMF
                     FLHYNFVLDSAILMAMAFDHYVAICSPLRYTTILTPKTIIKSAMGISFRSFCIILPDVF
                     LLTCLPFCRTRIIPHTYCEHIGVAQLACADISINFWYGFCVPIMTVISDVILIAVSYAH
                     ILCAVFGLPSQDACQKALGTCGSHVCVILMFYTPAFFSILAHRFGHNVSRTFHIMFANL
                     YIVIPPALNPMVYGVKTKQIRDKVILLFSKGTG"
ORIGIN
        1 tgtttttttt tggttggtgt gtctgctgtc ttgtagattt tgtcaacaca ctctttcttc
       61 tttccctttg gcctgatccc caagatttgg ggctgagatt tatgccatct gcctctgcca
      121 tgatcatttt caacctgagc agttacaatc caggaccctt cattctggta gggatcccag
      181 gcctggagca attccatgtg tggattggaa ttcccttctg tatcatctac attgtagctg
      241 ttgtgggaaa ctgcatcctt ctctacctca ttgtggtgga gcatagtctt catgaaccca
      301 tgttcttctt tctctccatg ctggccatga ctgacctcat cttgtccaca gctggtgtgc
      361 ctaaagcact cagtatcttt tggctagggg ctcgcgaaat cacattccca ggatgcctta
      421 cacaaatgtt cttccttcac tataactttg tcctggattc agccattctg atggccatgg
      481 catttgatca ctatgtagct atctgttctc ccttgagata taccaccatc ttgactccca
      541 agaccatcat caagagtgct atgggcatct cctttcgaag cttctgcatc atcctgccag
      601 atgtattctt gctgacatgc ctgcctttct gcaggacacg catcataccc cacacatact
      661 gtgagcatat aggtgttgcc cagctcgcct gtgctgatat ctccatcaac ttctggtatg
      721 gcttttgtgt tcccatcatg acggtcatct cagatgtgat tctcattgct gtttcctacg
      781 cacacatcct ctgtgctgtc tttggccttc cctcccaaga tgcctgccag aaagccctcg
      841 gcacttgtgg ttctcatgtc tgtgtcatcc tcatgtttta tacacctgcc tttttctcca
      901 tcctcgccca tcgctttgga cacaatgtct ctcgcacctt ccacatcatg tttgccaatc
      961 tctacattgt tatcccacct gcactcaacc ccatggttta cggagtgaag accaagcaga
     1021 tcagagataa ggttatactt ttgttttcta agggtacagg atga
//
LOCUS       NM_001005323             930 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily AK member 2
            (OR5AK2), mRNA.
ACCESSION   NM_001005323
VERSION     NM_001005323.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 930)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC137198.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000326855.3/ ENSP00000322784.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065496.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..930
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..930
                     /gene="OR5AK2"
                     /note="olfactory receptor family 5 subfamily AK member 2"
                     /db_xref="GeneID:390181"
                     /db_xref="HGNC:HGNC:15251"
     CDS             1..930
                     /gene="OR5AK2"
                     /codon_start=1
                     /product="olfactory receptor 5AK2"
                     /protein_id="NP_001005323.1"
                     /db_xref="CCDS:CCDS31538.1"
                     /db_xref="GeneID:390181"
                     /db_xref="HGNC:HGNC:15251"
                     /translation="MTLGNSTEVTEFYLLGFGAQHEFWCILFIVFLLIYVTSIMGNSGI
                     ILLINTDSRFQTLTYFFLQHLAFVDICYTSAITPKMLQSFTEEKNLMLFQGCVIQFLVY
                     ATFATSDCYLLAMMAVDPYVAICKPLHYTVIMSRTVCIRLVAGSYIMGSINASVQTGFT
                     CSLSFCKSNSINHFFCDVPPILALSCSNVDINIMLLVVFVGSNLIFTGLVVIFSYIYIM
                     ATILKMSSSAGRKKSFSTCASHLTAVTIFYGTLSYMYLQSHSNNSQENMKVAFIFYGTV
                     IPMLNPLIYSLRNKEVKEALKVIGKKLF"
     misc_feature    13..15
                     /gene="OR5AK2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH90.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR5AK2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH90.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR5AK2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH90.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR5AK2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH90.1);
                     transmembrane region"
     misc_feature    400..462
                     /gene="OR5AK2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH90.1);
                     transmembrane region"
     misc_feature    463..465
                     /gene="OR5AK2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH90.1); glycosylation site"
     misc_feature    589..651
                     /gene="OR5AK2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH90.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR5AK2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH90.1);
                     transmembrane region"
     misc_feature    793..795
                     /gene="OR5AK2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH90.1); glycosylation site"
     misc_feature    814..876
                     /gene="OR5AK2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH90.1);
                     transmembrane region"
ORIGIN
        1 atgacactag gaaacagcac tgaagtcact gaattctatc ttctgggatt tggtgcccag
       61 catgagtttt ggtgtatcct cttcattgta ttccttctca tctatgtgac ctccataatg
      121 ggtaatagtg gaataatctt actcatcaac acagattcca gatttcaaac actcacgtac
      181 ttttttctac aacatttggc ttttgttgat atctgttaca cttctgctat cactcccaag
      241 atgctccaaa gcttcacaga agaaaagaat ttgatgttat ttcagggctg tgtgatacaa
      301 ttcttagttt atgcaacatt tgcaaccagt gactgttatc tcctggctat gatggcagtg
      361 gatccttatg ttgccatctg taagcccctt cactatactg taatcatgtc ccgaacagtc
      421 tgcatccgtt tggtagctgg ttcatacatc atgggctcaa taaatgcctc tgtacaaaca
      481 ggttttacat gttcactgtc cttctgcaag tccaatagca tcaatcactt tttctgtgat
      541 gttcccccta ttcttgctct ttcatgctcc aatgttgaca tcaacatcat gctacttgtt
      601 gtctttgtgg gatctaactt gatattcact gggttggtcg tcatcttttc ctacatctac
      661 atcatggcca ccatcctgaa aatgtcttct agtgcaggaa ggaaaaaatc cttctcaaca
      721 tgtgcttccc acctgaccgc agtcaccatt ttctatggga cactctctta catgtatttg
      781 cagtctcatt ctaataattc ccaggaaaat atgaaagtgg cctttatatt ttatggcaca
      841 gttattccca tgttaaatcc tttaatctat agcttgagaa ataaggaagt aaaagaagct
      901 ttaaaagtga tagggaaaaa gttattttaa
//
LOCUS       NM_001005324             930 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily V member 1
            (OR10V1), mRNA.
ACCESSION   NM_001005324
VERSION     NM_001005324.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 930)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 930)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307552.3/ ENSP00000302199.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AP000640.5.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..930
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..930
                     /gene="OR10V1"
                     /gene_synonym="OR11-256"
                     /note="olfactory receptor family 10 subfamily V member 1"
                     /db_xref="GeneID:390201"
                     /db_xref="HGNC:HGNC:15136"
     CDS             1..930
                     /gene="OR10V1"
                     /gene_synonym="OR11-256"
                     /note="olfactory receptor OR11-256"
                     /codon_start=1
                     /product="olfactory receptor 10V1"
                     /protein_id="NP_001005324.1"
                     /db_xref="CCDS:CCDS31565.1"
                     /db_xref="GeneID:390201"
                     /db_xref="HGNC:HGNC:15136"
                     /translation="MEGINKTAKMQFFFRPFSPDPEVQMLIFVVFLMMYLTSLGGNATI
                     AVIVQINHSLHTPMYFFLANLAVLEIFYTSSITPLALANLLSMGKTPVSITGCGTQMFF
                     FVFLGGADCVLLVVMAYDQFIAICHPLRYRLIMSWSLCVELLVGSLVLGFLLSLPLTIL
                     IFHLPFCHNDEIYHFYCDMPAVMRLACADTRVHKTALYIISFIVLSIPLSLISISYVFI
                     VVAILRIRSAEGRQQAYSTCSSHILVVLLQYGCTSFIYLSPSSSYSPEMGRVVSVAYTF
                     ITPILNPLIYSLRNKELKDALRKALRKF"
     misc_feature    13..15
                     /gene="OR10V1"
                     /gene_synonym="OR11-256"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGI7.3); glycosylation site"
     misc_feature    76..138
                     /gene="OR10V1"
                     /gene_synonym="OR11-256"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI7.3);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR10V1"
                     /gene_synonym="OR11-256"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI7.3);
                     transmembrane region"
     misc_feature    301..363
                     /gene="OR10V1"
                     /gene_synonym="OR11-256"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI7.3);
                     transmembrane region"
     misc_feature    421..483
                     /gene="OR10V1"
                     /gene_synonym="OR11-256"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI7.3);
                     transmembrane region"
     misc_feature    595..654
                     /gene="OR10V1"
                     /gene_synonym="OR11-256"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI7.3);
                     transmembrane region"
     misc_feature    715..777
                     /gene="OR10V1"
                     /gene_synonym="OR11-256"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI7.3);
                     transmembrane region"
     misc_feature    817..879
                     /gene="OR10V1"
                     /gene_synonym="OR11-256"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGI7.3);
                     transmembrane region"
ORIGIN
        1 atggaaggaa taaataaaac tgcaaagatg cagtttttct ttcgtccatt ctcacctgac
       61 cctgaggtcc agatgctgat ttttgtggtc ttcctgatga tgtatctgac cagcctcggt
      121 ggaaatgcta caattgcagt cattgttcag atcaatcatt ccctccacac ccccatgtac
      181 tttttcctgg ctaatctggc agttctagaa atcttctata catcttccat caccccattg
      241 gccttggcaa acctcctttc aatgggcaaa actcctgttt ccatcacggg atgtggcacc
      301 cagatgtttt tctttgtctt cttgggtggg gctgattgtg tcctgctggt agtcatggct
      361 tatgaccagt ttatagcgat ctgtcaccct ctgcgataca ggctcatcat gagctggtcc
      421 ttgtgtgtgg agctgctggt aggctccttg gtgctggggt tcctgttgtc actgccactc
      481 accattttaa tcttccatct cccattctgc cacaatgatg agatctacca cttctactgt
      541 gacatgcctg cagtcatgcg cctggcttgt gcagacacac gcgttcacaa gactgctctg
      601 tatatcatca gcttcatcgt ccttagcatc cccctctcat tgatctccat ctcctatgtc
      661 ttcatcgtgg tagccatttt acggatccgg tcagcagaag ggcgccagca agcctactct
      721 acctgctctt ctcacatctt agtggtcctc ctgcagtatg gctgcaccag ctttatatac
      781 ttgtccccca gttccagcta ctctcctgag atgggccggg tggtatctgt ggcctacaca
      841 tttatcactc ccattttaaa ccccttgatc tatagtttga ggaacaagga actgaaagat
      901 gccctaagga aagcattgag aaaattctag
//
LOCUS       NM_001005325             942 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily M member 1
            (OR6M1), mRNA.
ACCESSION   NM_001005325
VERSION     NM_001005325.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 942)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 942)
  AUTHORS   Gilad Y, Bustamante CD, Lancet D and Paabo S.
  TITLE     Natural selection on the olfactory receptor gene family in humans
            and chimpanzees
  JOURNAL   Am J Hum Genet 73 (3), 489-501 (2003)
   PUBMED   12908129
REFERENCE   3  (bases 1 to 942)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309154.3/ ENSP00000311038.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065762.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..942
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.1"
     gene            1..942
                     /gene="OR6M1"
                     /gene_synonym="OR11-271"
                     /note="olfactory receptor family 6 subfamily M member 1"
                     /db_xref="GeneID:390261"
                     /db_xref="HGNC:HGNC:14711"
     CDS             1..942
                     /gene="OR6M1"
                     /gene_synonym="OR11-271"
                     /note="olfactory receptor, family 6, subfamily M, member 2
                     pseudogene; olfactory receptor OR11-271"
                     /codon_start=1
                     /product="olfactory receptor 6M1"
                     /protein_id="NP_001005325.1"
                     /db_xref="CCDS:CCDS31696.1"
                     /db_xref="GeneID:390261"
                     /db_xref="HGNC:HGNC:14711"
                     /translation="MGNWSTVTEITLIAFPALLEIRISLFVVLVVTYTLTATGNITIIS
                     LIWIDHRLQTPMYFFLSNLSFLDILYTTVITPKLLACLLGEEKTISFAGCMIQTYFYFF
                     LGTVEFILLAVMSFDRYMAICDPLHYTVIMNSRACLLLVLGCWVGAFLSVLFPTIVVTR
                     LPYCRKEINHFFCDIAPLLQVACINTHLIEKINFLLSALVILSSLAFTTGSYVYIISTI
                     LRIPSTQGRQKAFSTCASHITVVSIAHGSNIFVYVRPNQNSSLDYDKVAAVLITVVTPL
                     LNPFIYSLRNEKVQEVLRETVNRIMTLIQRKT"
     misc_feature    7..9
                     /gene="OR6M1"
                     /gene_synonym="OR11-271"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGM8.1); glycosylation site"
     misc_feature    70..132
                     /gene="OR6M1"
                     /gene_synonym="OR11-271"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM8.1);
                     transmembrane region"
     misc_feature    157..219
                     /gene="OR6M1"
                     /gene_synonym="OR11-271"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM8.1);
                     transmembrane region"
     misc_feature    292..354
                     /gene="OR6M1"
                     /gene_synonym="OR11-271"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM8.1);
                     transmembrane region"
     misc_feature    412..474
                     /gene="OR6M1"
                     /gene_synonym="OR11-271"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM8.1);
                     transmembrane region"
     misc_feature    583..642
                     /gene="OR6M1"
                     /gene_synonym="OR11-271"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM8.1);
                     transmembrane region"
     misc_feature    703..765
                     /gene="OR6M1"
                     /gene_synonym="OR11-271"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM8.1);
                     transmembrane region"
     misc_feature    784..786
                     /gene="OR6M1"
                     /gene_synonym="OR11-271"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGM8.1); glycosylation site"
     misc_feature    805..867
                     /gene="OR6M1"
                     /gene_synonym="OR11-271"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGM8.1);
                     transmembrane region"
ORIGIN
        1 atgggaaact ggagcactgt gactgaaatc accctaattg ccttcccagc tctcctggag
       61 attcgaatat ctctcttcgt ggttcttgtg gtaacttaca cattaacagc aacaggaaac
      121 atcaccatca tctccctgat atggattgat catcgcctgc aaactccaat gtacttcttc
      181 ctcagtaatt tgtcctttct ggatatctta tacaccactg tcattacccc aaagttgttg
      241 gcctgcctcc taggagaaga gaaaaccata tcttttgctg gttgcatgat ccaaacatat
      301 ttctacttct ttctggggac ggtggagttt atcctcttgg cggtgatgtc ctttgaccgc
      361 tacatggcta tctgcgaccc actgcactac acggtcatca tgaacagcag ggcctgcctt
      421 ctgctggttc tgggatgctg ggtgggagcc ttcctgtctg tgttgtttcc aaccattgta
      481 gtgacaaggc taccttactg taggaaagaa attaatcatt tcttctgtga cattgcccct
      541 cttcttcagg tggcctgtat aaatactcac ctcattgaga agataaactt tctcctctct
      601 gcccttgtca tcctgagctc cctggcattc actactgggt cctacgtgta cataatttct
      661 accatcctgc gtatcccctc cacccagggc cgtcagaaag ctttttctac ctgtgcttct
      721 cacatcactg ttgtctccat tgcccacggg agcaacatct ttgtgtatgt gagacccaat
      781 cagaactcct cactggatta tgacaaggtg gccgctgtcc tcatcacagt ggtgacccct
      841 ctcctgaacc cttttatcta cagcttgagg aatgagaagg tacaggaagt gttgagagag
      901 acagtgaaca gaatcatgac cttgatacaa aggaaaactt ga
//
LOCUS       NM_001005326            1238 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily F member 6
            (OR4F6), mRNA.
ACCESSION   NM_001005326
VERSION     NM_001005326.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1238)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328882.6/ ENSP00000327525.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC107977.13.
            On Aug 4, 2020 this sequence version replaced NM_001005326.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1238
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     gene            1..1238
                     /gene="OR4F6"
                     /gene_synonym="OR15-15; OR4F12"
                     /note="olfactory receptor family 4 subfamily F member 6"
                     /db_xref="GeneID:390648"
                     /db_xref="HGNC:HGNC:15372"
     misc_feature    44..46
                     /gene="OR4F6"
                     /gene_synonym="OR15-15; OR4F12"
                     /note="upstream in-frame stop codon"
     CDS             71..1009
                     /gene="OR4F6"
                     /gene_synonym="OR15-15; OR4F12"
                     /note="olfactory receptor, family 4, subfamily F, member
                     12; olfactory receptor OR15-15; olfactory receptor 4F12"
                     /codon_start=1
                     /product="olfactory receptor 4F6"
                     /protein_id="NP_001005326.1"
                     /db_xref="CCDS:CCDS32341.1"
                     /db_xref="GeneID:390648"
                     /db_xref="HGNC:HGNC:15372"
                     /translation="MDEANHSVVSEFVFLGLSDSRKIQLLLFLFFSVFYVSSLMGNLLI
                     VLTVTSDPRLQSPMYFLLANLSIINLVFCSSTAPKMIYDLFRKHKTISFGGCVVQIFFI
                     HAVGGTEMVLLIAMAFDRYVAICKPLHYLTIMNPQRCILFLVISWIIGIIHSVIQLAFV
                     VDLLFCGPNELDSFFCDLPRFIKLACIETYTLGFMVTANSGFISLASFLILIISYIFIL
                     VTVQKKSSGGIFKAFSMLSAHVIVVVLVFGPLIFFYIFPFPTSHLDKFLAIFDAVITPV
                     LNPVIYTFRNKEMMVAMRRRCSQFVNYSKIF"
     misc_feature    83..85
                     /gene="OR4F6"
                     /gene_synonym="OR15-15; OR4F12"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGB9.1); glycosylation site"
     misc_feature    146..217
                     /gene="OR4F6"
                     /gene_synonym="OR15-15; OR4F12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB9.1);
                     transmembrane region"
     misc_feature    242..307
                     /gene="OR4F6"
                     /gene_synonym="OR15-15; OR4F12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB9.1);
                     transmembrane region"
     misc_feature    371..430
                     /gene="OR4F6"
                     /gene_synonym="OR15-15; OR4F12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB9.1);
                     transmembrane region"
     misc_feature    488..544
                     /gene="OR4F6"
                     /gene_synonym="OR15-15; OR4F12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB9.1);
                     transmembrane region"
     misc_feature    656..727
                     /gene="OR4F6"
                     /gene_synonym="OR15-15; OR4F12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB9.1);
                     transmembrane region"
     misc_feature    776..844
                     /gene="OR4F6"
                     /gene_synonym="OR15-15; OR4F12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB9.1);
                     transmembrane region"
     misc_feature    878..937
                     /gene="OR4F6"
                     /gene_synonym="OR15-15; OR4F12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGB9.1);
                     transmembrane region"
ORIGIN
        1 ctgcattttg tgatcctcta tttcaacact ggtccagtta gcatgagagt tgtcacagcc
       61 gacagaggca atggatgaag ccaatcactc tgtggtctct gagtttgtgt tcctgggact
      121 ctctgactcg cggaagatcc agctcctcct cttcctcttt ttctcagtgt tctatgtgtc
      181 aagcctgatg ggaaatctcc tcattgtgct aactgtgacc tctgaccctc gtttacagtc
      241 ccccatgtac ttcctgctgg ccaacctttc catcatcaat ttggtatttt gttcctccac
      301 agctcccaag atgatttatg accttttcag gaagcacaag accatctctt ttgggggctg
      361 tgtagttcag atcttcttta tccatgcagt tgggggaact gagatggtgc tgctcatagc
      421 catggctttt gaccgatatg tggccatatg taagcctctc cactacctga ccatcatgaa
      481 cccacaaagg tgcattttgt ttttagtcat ttcctggatt ataggtatta ttcactcagt
      541 gattcagttg gcttttgttg tagacctgct gttctgtggc cctaatgaat tagatagttt
      601 cttttgtgat cttcctcgat ttatcaaact ggcttgcata gagacctaca cattgggatt
      661 catggttact gccaatagtg gatttatttc tctggcttct tttttaattc tcataatctc
      721 ttacatcttt attttggtga ctgttcagaa aaaatcttca ggtggtatat tcaaggcttt
      781 ctctatgctg tcagctcatg tcattgtggt ggttttggtc tttgggccat taatcttttt
      841 ctatattttt ccatttccca catcacatct tgataaattc cttgccatct ttgatgcagt
      901 tatcactccc gttttgaatc cagtcatcta tacttttaga aataaagaga tgatggtggc
      961 aatgagaaga cgatgctctc agtttgtgaa ttacagtaaa atcttttaaa tatattgaga
     1021 atatacaaaa aggcaaatta tactagaatt tcagacagat atgtgttaag taagctatgt
     1081 taaatttaac cagaatatca ctttctacta gtatgtattg tgttgtcttt tttttcttcc
     1141 caaattgaat tgtggtatca atctcttgct tatataggag atttaaagat taaacagtgt
     1201 ggctacttta tttcaccaac attattacct atatataa
//
LOCUS       NM_001005327            1844 bp    mRNA    linear   PRI 16-SEP-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily K member 3
            (OR6K3), mRNA.
ACCESSION   NM_001005327
VERSION     NM_001005327.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1844)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1844)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368145.2/ ENSP00000357127.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL513205.8.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 5, 2020 this sequence version replaced NM_001005327.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1844
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     gene            1..1844
                     /gene="OR6K3"
                     /gene_synonym="OR1-18"
                     /note="olfactory receptor family 6 subfamily K member 3"
                     /db_xref="GeneID:391114"
                     /db_xref="HGNC:HGNC:15030"
     CDS             56..1003
                     /gene="OR6K3"
                     /gene_synonym="OR1-18"
                     /note="olfactory receptor OR1-18; seven transmembrane helix
                     receptor"
                     /codon_start=1
                     /product="olfactory receptor 6K3"
                     /protein_id="NP_001005327.2"
                     /db_xref="CCDS:CCDS30903.2"
                     /db_xref="GeneID:391114"
                     /db_xref="HGNC:HGNC:15030"
                     /translation="MESGNQSTVTEFIFTGFPQLQDGSLLYFFPLLFIYTFIIIDNLLI
                     FSAVRLDTHLHNPMYNFISIFSFLEIWYTTATIPKMLSNLISEKKAISMTGCILQMYFF
                     HSLENSEGILLTTMAIDRYVAICNPLRYQMIMTPRLCAQLSAGSCLFGFLILLPEIVMI
                     STLPFCGPNQIHQIFCDLVPVLSLACTDTSMILIEDVIHAVTIIITFLIIALSYVRIVT
                     VILRIPSSEGRQKAFSTCAGHLMVFPIFFGSVSLMYLRFSDTYPPVLDTAIALMFTVLA
                     PFFNPIIYSLRNKDMNNAIKKLFCLQKVLNKPGG"
ORIGIN
        1 cccaggcaga ctgaggagtc cctgtgtttt tggcaaaggt agctctacta gaaatatgga
       61 gagcggaaac caatcaacag tgactgaatt tatcttcact ggattccctc agcttcagga
      121 tggtagtctc ctgtacttct ttcctttact tttcatctat acttttatta tcattgataa
      181 cttattaatc ttctctgctg taaggctgga cacccatctc cacaacccca tgtataattt
      241 tatcagtata ttttcctttc tggagatctg gtacaccaca gccaccattc ccaagatgct
      301 ctccaacctc atcagtgaaa agaaggccat ctcaatgact ggctgcatct tgcagatgta
      361 tttcttccac tcacttgaaa actcagaggg gatcttgctg accaccatgg ccattgacag
      421 atacgttgcc atctgcaacc ctcttcgcta tcaaatgatc atgacccccc ggctctgtgc
      481 tcaactctct gcaggttcct gcctcttcgg tttccttatc ctgcttcccg agattgtgat
      541 gatttccaca ctgcctttct gtgggcccaa ccaaatccat cagatcttct gtgacttggt
      601 ccctgtgcta agcctggcct gtacagacac gtccatgatt ctgattgagg atgtgattca
      661 tgctgtgacc atcatcatta ccttcctaat cattgccctg tcctatgtaa gaattgtcac
      721 tgtgatattg aggattccct cttctgaagg gaggcaaaag gctttttcta cctgtgcagg
      781 ccacctcatg gtcttcccga tattctttgg cagtgtatca ctcatgtact tgcgtttcag
      841 cgacacttat ccaccagttt tggacacagc cattgcactg atgtttactg tacttgctcc
      901 attcttcaat cccatcattt atagcctgag aaacaaggac atgaacaatg cgattaaaaa
      961 actgttctgt cttcaaaaag tgttgaacaa gcctggaggt taatacagag ccacaggttc
     1021 ccttccgttg cttttgtttt gttttgtttt ttgagatgga gtttcactct tgttgcctgg
     1081 gctggagtgc aatggcatga tcttggctca ctgcaacctc cacctcctgg ttttgaacaa
     1141 ttctcctgcc tcagcctccc tagtagccgc gattacaggc atgcaccacc acacccagct
     1201 aatttttgta tttttagtgg agatggggtt tcactgtgtt ggtcaggctg gtcttgaact
     1261 cctgacctta ggtgatccaa actcctctgc ctcccaaaat gctgggatta cagctgtgag
     1321 ccaccgcatc tggccctttc cattgcttta atgtttgtct aacatattag aacatgagat
     1381 tactctatac ctagtgcttt gtcacactga aatttctgtc atcctaatta ttttccctat
     1441 acctagaaaa atatttatac tctctgtgtc atcgttataa aagttgctgt gcatatcatg
     1501 aggaacctta ttatgtggct gaataactgt agtttctttc ttctgaaatg ctgtggttaa
     1561 agaaaatttg tttgccactt tagagggtta gaactacaga gcttgagctt cagaagctga
     1621 caatgtgctc tgtggtagta tgtgtctatt taggtaacac atcttagaaa agtttttttg
     1681 tttaattatg agtcatggat tacctcattg gggttttcca gaaatagaga tctaagaaaa
     1741 agcccaaaca acatttaatt aagttatatc tttattttta gttatgtagt tacctattca
     1801 ttagaataat tacatgttta gtaagattag attattagta ctgc
//
LOCUS       NM_001005328            2062 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily A member 7
            (OR2A7), mRNA.
ACCESSION   NM_001005328
VERSION     NM_001005328.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2062)
  AUTHORS   Tsai T, Veitinger S, Peek I, Busse D, Eckardt J, Vladimirova D,
            Jovancevic N, Wojcik S, Gisselmann G, Altmuller J, Stander S, Luger
            T, Paus R, Cheret J and Hatt H.
  TITLE     Two olfactory receptors-OR2A4/7 and OR51B5-differentially affect
            epidermal proliferation and differentiation
  JOURNAL   Exp Dermatol 26 (1), 58-65 (2017)
   PUBMED   27315375
  REMARK    GeneRIF: Proliferation tests, ELISA and kinase array indicated that
            OR2A4/7 and CHS play important roles in the proliferation of HaCaT
            cells and keratinocytes.
REFERENCE   2  (bases 1 to 2062)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 2062)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641841.1/ ENSP00000493320.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004889.1.
            On Aug 14, 2020 this sequence version replaced NM_001005328.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..2062
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q35"
     gene            1..2062
                     /gene="OR2A7"
                     /gene_synonym="HSDJ0798C17; OR2A21"
                     /note="olfactory receptor family 2 subfamily A member 7"
                     /db_xref="GeneID:401427"
                     /db_xref="HGNC:HGNC:8234"
     misc_feature    58..60
                     /gene="OR2A7"
                     /gene_synonym="HSDJ0798C17; OR2A21"
                     /note="upstream in-frame stop codon"
     CDS             97..1029
                     /gene="OR2A7"
                     /gene_synonym="HSDJ0798C17; OR2A21"
                     /note="olfactory receptor OR7-20; olfactory receptor,
                     family 2, subfamily A, member 21; olfactory receptor
                     OR7-18"
                     /codon_start=1
                     /product="olfactory receptor 2A7"
                     /protein_id="NP_001005328.1"
                     /db_xref="CCDS:CCDS55177.1"
                     /db_xref="GeneID:401427"
                     /db_xref="HGNC:HGNC:8234"
                     /translation="MGDNITSITEFLLLGFPVGPRIQMLLFGLFSLFYVFTLLGNGTIL
                     GLISLDSRLHAPMYFFLSHLAVVDIAYACNTVPRMLVNLLHPAKPISFAGRMMQTFLFS
                     TFAVTECLLLVVMSYDLYVAICHPLRYLAIMTWRVCITLAVTSWTTGVLLSLIHLVLLL
                     PLPFCRPQKIYHFFCEILAVLKLACADTHINENMVLAGAISGLVGPLSTIVVSYMCILC
                     AILQIQSREVQRKAFCTCFSHLCVIGLFYGTAIIMYVGPRYGNPKEQKKYLLLFHSLFN
                     PMLNPLICSLRNSEVKNTLKRVLGVERAL"
     misc_feature    106..108
                     /gene="OR2A7"
                     /gene_synonym="HSDJ0798C17; OR2A21"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96R45.3); glycosylation site"
     misc_feature    169..240
                     /gene="OR2A7"
                     /gene_synonym="HSDJ0798C17; OR2A21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R45.3);
                     transmembrane region"
     misc_feature    265..330
                     /gene="OR2A7"
                     /gene_synonym="HSDJ0798C17; OR2A21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R45.3);
                     transmembrane region"
     misc_feature    394..453
                     /gene="OR2A7"
                     /gene_synonym="HSDJ0798C17; OR2A21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R45.3);
                     transmembrane region"
     misc_feature    511..567
                     /gene="OR2A7"
                     /gene_synonym="HSDJ0798C17; OR2A21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R45.3);
                     transmembrane region"
     misc_feature    679..750
                     /gene="OR2A7"
                     /gene_synonym="HSDJ0798C17; OR2A21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R45.3);
                     transmembrane region"
     misc_feature    802..870
                     /gene="OR2A7"
                     /gene_synonym="HSDJ0798C17; OR2A21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R45.3);
                     transmembrane region"
     misc_feature    910..969
                     /gene="OR2A7"
                     /gene_synonym="HSDJ0798C17; OR2A21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R45.3);
                     transmembrane region"
ORIGIN
        1 atcacgtgtt gtttaatgat gcggatacgt tctgagaaat gtgcggtcaa gtgattctga
       61 cattgtgtga acatccagaa aggacttcac ggggatatgg gggacaatat aacatccatc
      121 acagagttcc tcctactggg atttcccgtt ggcccaagga ttcagatgct cctctttggg
      181 ctcttctccc tgttctacgt cttcaccctg ctggggaacg ggaccatact ggggctcatc
      241 tcactggact ccagactgca cgcccccatg tacttcttcc tctcacacct ggcggtcgtc
      301 gacatcgcct acgcctgcaa cacggtgccc cggatgctgg tgaacctcct gcatccagcc
      361 aagcccatct cctttgcggg ccgcatgatg cagacctttc tgttttccac ttttgctgtc
      421 acagaatgtc tcctcctggt ggtgatgtcc tatgatctgt acgtggccat ctgccacccc
      481 ctccgatatt tggccatcat gacctggaga gtctgcatca ccctcgcggt gacttcctgg
      541 accactggag tccttttatc cttgattcat cttgtgttac ttctaccttt acccttctgt
      601 aggccccaga aaatttatca ctttttttgt gaaatcttgg ctgttctcaa acttgcctgt
      661 gcagataccc acatcaatga gaacatggtc ttggccggag caatttctgg gctggtggga
      721 cccttgtcca caattgtagt ttcatatatg tgcatcctct gtgctatcct tcagatccaa
      781 tcaagggaag ttcagaggaa agccttctgc acctgcttct cccacctctg tgtgattgga
      841 ctcttttatg gcacagccat tatcatgtat gttggaccca gatatgggaa ccccaaggag
      901 cagaagaaat atctcctgct gtttcacagc ctctttaatc ccatgctcaa tccccttatc
      961 tgtagtctta ggaactcaga agtgaagaat actttgaaga gagtgctggg agtagaaagg
     1021 gctttatgaa aaggattatg gcattgtgac tgacagtgac ctaggaagtt acatcattga
     1081 gcggttctta acccatctct gcactggtgg gacctctgcc ctcaatggac atgagaatta
     1141 tctgagacat ttatttaaaa tggagctatc tcctgcccta cctttaaatg actgatttca
     1201 gcagatgtgg gatgaaattc tagaaattga tctcttcaag ttgtgctgca gccactccac
     1261 accaggacaa taccccttac aatatcctca ttagcttttg atccagtccc atacctccca
     1321 taatgttttc ctcaaaacac tggtcccttc agaggacttt aaaaataagt tctatagtca
     1381 aataagtttg agacttactt cacatcagat gcctctgtct agggatcaca attcatatta
     1441 gcatagtgaa tgctgtaaat atttctctag gaaagaataa ttctatacca gctttaagcc
     1501 agtgttttct aaacttatgt gagcacataa aatttccttt gtaatactta gtaacagttt
     1561 cctggaacag gagatcttga tattaattga ctcattgtga atacttccta cagccccctt
     1621 ctagggcaga atgatttctt ttttccttgc aaagtgagcc tctaaagaga tgtagttctg
     1681 agcattatgc ctcgatcagt ctgtaaaaat ccgggttctg tttggataca gaccgtgagg
     1741 gaccctgtct ctactgttca atggtagatc atctaaagaa aataaatgca atcctgtcct
     1801 tcatcatgga tcggcattcc tgctatagaa gcttcaggag atgacctcat tcaacctcac
     1861 aatcttctaa atttgagatt tttaagaaat atgattcagt atacatctgc ctgtgtttgc
     1921 cgctgaatga aatcaatcta atttttctaa ttcagggttt tcaagataaa cccagatttc
     1981 tcaagaaaga aaaatctaga aagatttcaa aatccaccac ctacacactt aaaagttgta
     2041 gcagcttctt atgccatggg aa
//
LOCUS       NM_001005329            4393 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 51 subfamily A member 4
            (OR51A4), mRNA.
ACCESSION   NM_001005329
VERSION     NM_001005329.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4393)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641898.1/ ENSP00000492963.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018375.8.
            On Aug 10, 2020 this sequence version replaced NM_001005329.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..4393
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..4393
                     /gene="OR51A4"
                     /note="olfactory receptor family 51 subfamily A member 4"
                     /db_xref="GeneID:401666"
                     /db_xref="HGNC:HGNC:14795"
     misc_feature    118..120
                     /gene="OR51A4"
                     /note="upstream in-frame stop codon"
     CDS             124..1065
                     /gene="OR51A4"
                     /codon_start=1
                     /product="olfactory receptor 51A4"
                     /protein_id="NP_001005329.1"
                     /db_xref="CCDS:CCDS31367.1"
                     /db_xref="GeneID:401666"
                     /db_xref="HGNC:HGNC:14795"
                     /translation="MSIINTSYVEITTFFLVGMPGLEYAHIWISIPICSMYLIAILGNG
                     TILFIIKTEPSLHEPMYYFLSMLAMSDLGLSLSSLPTVLSIFLFNAPEISSNACFAQEF
                     FIHGFSVLESSVLLIMSFDRFLAIHNPLRYTSILTTVRVAQIGIVFSFKSMLLVLPFPF
                     TLRNLRYCKKNQLSHSYCLHQDVMKLACSDNRIDVIYGFFGALCLMVDFILIAVSYTLI
                     LKTVLGIASKKEQLKALNTCVSHICAVIIFYLPIINLAVVHRFARHVSPLINVLMANVL
                     LLVPPLTNPIVYCVKTKQIRVRVVAKLCQRKI"
     misc_feature    136..138
                     /gene="OR51A4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGJ6.1); glycosylation site"
     misc_feature    205..267
                     /gene="OR51A4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ6.1);
                     transmembrane region"
     misc_feature    292..354
                     /gene="OR51A4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ6.1);
                     transmembrane region"
     misc_feature    427..489
                     /gene="OR51A4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ6.1);
                     transmembrane region"
     misc_feature    547..609
                     /gene="OR51A4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ6.1);
                     transmembrane region"
     misc_feature    718..777
                     /gene="OR51A4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ6.1);
                     transmembrane region"
     misc_feature    838..900
                     /gene="OR51A4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ6.1);
                     transmembrane region"
     misc_feature    946..1008
                     /gene="OR51A4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ6.1);
                     transmembrane region"
ORIGIN
        1 gtttgtatat cagaattatt tagcttttat caaaagtgct tacaaacata tccacttact
       61 gatattccta ttttaccaac acaagcatct gtatttttca tagcagagcc ctatgaatga
      121 atcatgtcca ttatcaacac atcatatgtt gaaatcacca ccttcttctt ggttgggatg
      181 ccagggctag aatatgcaca catctggatc tctatcccca tctgcagcat gtatcttatt
      241 gctattctag gaaatggcac cattcttttt atcatcaaga cagagccctc cttgcatgag
      301 cccatgtact attttctttc catgttggct atgtcagact tgggtttgtc tttatcatct
      361 ctgcccactg tgttaagcat cttcctgttc aatgctcctg aaatttcatc caatgcctgc
      421 tttgcccagg aattcttcat tcatggattc tcagtactgg agtcctcagt cctcctgatc
      481 atgtcatttg atagattcct agccatccac aaccctctga gatacacctc aatcctgaca
      541 actgtcagag ttgcccaaat agggatagta ttctccttta agagcatgct cctggttctt
      601 cccttccctt tcactttaag aaacttgaga tattgcaaga aaaaccaatt atcccattcc
      661 tactgtctcc accaggatgt catgaagttg gcctgttctg acaacagaat tgatgttatc
      721 tatggctttt ttggagcact ctgccttatg gtagacttta ttctcattgc tgtgtcttac
      781 accctgatcc tcaagactgt actgggaatt gcatccaaaa aggagcagct taaggctctc
      841 aatacttgtg tttcacacat ctgtgcagtg atcatcttct acctgcccat catcaacctg
      901 gccgttgtcc accgctttgc ccggcatgtc tctcccctca ttaatgttct catggcaaat
      961 gttctcctac ttgtacctcc actgacgaac ccaattgttt attgtgtaaa aactaaacag
     1021 attagagtga gagttgtagc aaaattgtgt caacggaaga tttaacagtc atatgtgaca
     1081 gaaaacctgg aaatgtctgg taagatattt aaggtaaatt tgagaaacct aatatttgac
     1141 accaagaatt atcaacacat atttttgttg ttgtcataga gttattttat tcactctgga
     1201 tactgcgaat gagaatagaa ctataaacag gaagtacgtt gccttatgtc cccatttcag
     1261 ttaagcagaa taaaaataaa tgtcttatga tagcatctcc gatacaagca acaaattaca
     1321 accaagacag aaaaatgata atttttacag ctctgacaga agttggattt ctcattatct
     1381 acattcaatc tcttatacca agttctttta atgctagacc taaattagct gtctctttat
     1441 ccattttaat catcttagaa tacaaccatt tttttaattt aatcatttat attccatatt
     1501 gggatacatg tgctggattt ttacatggtt atatgggacc cgggtagtga gcatagtacc
     1561 caatagatag tttttcagtc caatcctgcc tctttcactc ttgccccacc agtagtctgc
     1621 agtcaccagc atttctctca taaaatattg ctaagttccc tgccttataa ttgattcaca
     1681 atgaaatgca agagtaatct ataggcaaat tgaatgtgta agtgtctctt ttaaatttga
     1741 actcttcctt tgttagaaat acagttaaat caataaggaa catattctaa gaccctacat
     1801 ggcctggacc ctttctactt actcaacgtc gtcagatact cattaatctc cagccacatc
     1861 aacctactga acagtttttg aatttacaga gctctttgct ttcttgagtt ttcacatcag
     1921 atctcttttg ttaaaatgct cttgactcca attttgtata atgcatttct atttttttct
     1981 ttaaattttg gcttaatttc ctcatagatt acctagccct agtttgtatt atgatcttct
     2041 cttttatctc ttccattgcg ggtttattct ttcatctttt gtctctttca ttgctggttt
     2101 attctttatt ctttattata cttaatattt gcaattacag atatatttta tccttatttc
     2161 atttctttct tcttcttgaa taaagtgtac tataagtgat tgaagagacc tatctatttt
     2221 cttatttttt cctgcctaat gtctaggaca cttctgatgc agagtagatt ttaataaata
     2281 attgctaatg aatgaattta aaaataagac catgtttgtt gaaaaagatg ttcactgagg
     2341 agttcagtaa tatttcttca aggtaggata caagtttttt aaattgtcta tttcaaatat
     2401 aggcatatca ttgatgctaa tgatttttaa aacaggaaaa aaaaaagata tgatgttaaa
     2461 gacaaattta ttgccttgga tttgtggctg aaaaattgtc caactttcct tcctaatatg
     2521 acctcaaaat cttgcatatt gcgaaaatca ttttagcctt ttcattttac ctacccattg
     2581 aatcaagtca tttttatcaa ccacgtcagt tcaagtctcc tacacttcta acctcaggtg
     2641 aatcaagaaa caccttccag gaatgtcaaa tgcttaaaaa ataataatca gcccacaact
     2701 gaccgtactt cacaattaat ggaaaatctt tatagataca aacattgttt gtaaacctct
     2761 aatttatgca ggatatgctt ccaggtcttt ttaggcattt taaaaatttg ctctcaacaa
     2821 tgacccagct ttttataaaa ggttttttcc tatttatttt agttgaagag attgaggctc
     2881 tgagagtttg atttaatgaa attcacacag agaggaagtc aaaagctggg gttcaaacct
     2941 aatctctgat gctccaggat agtattatct tgaatacatt ttagttttta aattcaggac
     3001 tacgtatgtt ttcacaaacc tatcctagtg tagaaaatcc tatcatcaga tcagggcaag
     3061 aactgttcct atgtttgagg tgcataactg tatctatcta ccttttccaa aaccttacaa
     3121 atacagatat gggtttgggg ttgtagtaca accaagcagt agttgacata ttttattaat
     3181 tgaaagaaat agaagctcat attctcccag tgtgcggata ggcagcccaa tatgaagact
     3241 tcatttccac taaaaagatg aggagtaatt aggtggcttt aatagcatct tattctttca
     3301 ggatattgta catagatgtc acataaaaga gtatcaaaga tcatctgtat tttaggggtt
     3361 tttgacagtc ttaataaaat gaaatgaaaa ataaaataaa gatacataaa tctcaatggg
     3421 ggaggtgaag atttatggtc agcataatga ttttcacata tttctgaaat gaagaatgta
     3481 gtttttggag gattaaaatc tcaactctgg ggctccttaa acagtggttc tcaactggca
     3541 gcaatgttac ctccaagaga catttggcaa tgtctgggga catcttcggt tgttgcaacc
     3601 tgggggtgtg ggtgtgtcac tgacttccac tgattagagg ccggagacgc tactaaccat
     3661 tctttaatgt acaggatagc ccttacccaa aagaattatc tagcacaaaa tgtcagtggt
     3721 gccaagcatt aaaaaaacct tagtctaaat gtaactatca aataacaaat gattaagccc
     3781 catggttaaa caaattacct tgagctcacc tacacagcac ctaggggcaa tctgatacca
     3841 gagaagttcc tcagaaagga aaccagtgaa aaactgagaa aactgaaaga cttcacttga
     3901 gagatgttaa aagacttatt aatcacacat gaaagtgtac aaagatgaat gcaaaggatg
     3961 taaaccttac caaaaggcaa gttcaaatac tttttaaaaa gattctagta agtcttctta
     4021 ttgtttcgct gtgtttcatt ttgtttttct attggacatt ggtcatttgt gagaggtttg
     4081 tgggaaaaca ttgtaaggga tggaacacta caaaattata agggacgaag gggagcatca
     4141 tttagtccaa gcagagaata tgtgaattag gtggagagaa tatgcctgta tgatatagga
     4201 gttacatgag aacaatactg taatttttaa agtagacaac tacttgtctg tacaacctaa
     4261 gcatcttagt tttactaggg ccaatgaatt ttcaatgcca tgaaaaaata ttctttaata
     4321 tattgaattg tgtacaatca acccaatcca tttaattgaa tgtgttattc ttgcttgaga
     4381 atttgagtcc cca
//
LOCUS       NM_001005337            5326 bp    mRNA    linear   PRI 23-MAY-2023
DEFINITION  Homo sapiens plakophilin 1 (PKP1), transcript variant 1a, mRNA.
ACCESSION   NM_001005337
VERSION     NM_001005337.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5326)
  AUTHORS   Kim M, Reidenbach S, Schlechter T, Rothmann AC, Will R and Hofmann
            I.
  TITLE     Plakophilin 1 deficiency in prostatic tumours is correlated with
            immune cell recruitment and controls the up-regulation of cytokine
            expression post-transcriptionally
  JOURNAL   FEBS J 290 (7), 1907-1919 (2023)
   PUBMED   36380691
  REMARK    GeneRIF: Plakophilin 1 deficiency in prostatic tumours is correlated
            with immune cell recruitment and controls the up-regulation of
            cytokine expression post-transcriptionally.
REFERENCE   2  (bases 1 to 5326)
  AUTHORS   Neira JL, Rizzuti B, Araujo-Abad S, Abian O, Farez-Vidal ME,
            Velazquez-Campoy A and de Juan Romero C.
  TITLE     The armadillo-repeat domain of Plakophilin 1 binds to human enzyme
            PADI4
  JOURNAL   Biochim Biophys Acta Proteins Proteom 1871 (2), 140868 (2023)
   PUBMED   36372391
  REMARK    GeneRIF: The armadillo-repeat domain of Plakophilin 1 binds to human
            enzyme PADI4.
REFERENCE   3  (bases 1 to 5326)
  AUTHORS   Pandey P, Khan F, Chauhan P, Upadhyay TK, Bardakci F, Alam MJ,
            Almuzaini N, Abdalla RAH, Singh SK and Saeed M.
  TITLE     Elucidation of the inhibitory potential of flavonoids against PKP1
            protein in non-small cell lung cancer
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 68 (11), 90-96 (2022)
   PUBMED   37114302
  REMARK    GeneRIF: Elucidation of the inhibitory potential of flavonoids
            against PKP1 protein in non-small cell lung cancer. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 5326)
  AUTHORS   Boyero L, Martin-Padron J, Farez-Vidal ME, Rodriguez MI, Andrades A,
            Peinado P, Arenas AM, Ritore-Salazar F, Alvarez-Perez JC, Cuadros M
            and Medina PP.
  TITLE     PKP1 and MYC create a feedforward loop linking transcription and
            translation in squamous cell lung cancer
  JOURNAL   Cell Oncol (Dordr) 45 (2), 323-332 (2022)
   PUBMED   35182388
  REMARK    GeneRIF: PKP1 and MYC create a feedforward loop linking
            transcription and translation in squamous cell lung cancer.
REFERENCE   5  (bases 1 to 5326)
  AUTHORS   Fujita J, Nakajima M, Muroi H, Kikuchi M, Ihara K, Yamaguchi T,
            Nakagawa M, Morita S, Nakamura T, Tsuchioka T and Kojima K.
  TITLE     The Prognostic Significance of Plakophilin-1 Expression in
            Esophageal Cancer
  JOURNAL   Anticancer Res 41 (7), 3401-3407 (2021)
   PUBMED   34230135
  REMARK    GeneRIF: The Prognostic Significance of Plakophilin-1 Expression in
            Esophageal Cancer.
REFERENCE   6  (bases 1 to 5326)
  AUTHORS   Schmidt A, Langbein L, Rode M, Pratzel S, Zimbelmann R and Franke
            WW.
  TITLE     Plakophilins 1a and 1b: widespread nuclear proteins recruited in
            specific epithelial cells as desmosomal plaque components
  JOURNAL   Cell Tissue Res 290 (3), 481-499 (1997)
   PUBMED   9369526
REFERENCE   7  (bases 1 to 5326)
  AUTHORS   McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane
            EB, Garrod DR and Eady RA.
  TITLE     Mutations in the plakophilin 1 gene result in ectodermal
            dysplasia/skin fragility syndrome
  JOURNAL   Nat Genet 17 (2), 240-244 (1997)
   PUBMED   9326952
REFERENCE   8  (bases 1 to 5326)
  AUTHORS   Cowley,C.M., Simrak,D., Spurr,N.K., Arnemann,J. and Buxton,R.S.
  TITLE     The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human
            chromosomes 1q and 17, respectively
  JOURNAL   Hum Genet 100 (3-4), 486-488 (1997)
   PUBMED   9272178
REFERENCE   9  (bases 1 to 5326)
  AUTHORS   Heid HW, Schmidt A, Zimbelmann R, Schafer S, Winter-Simanowski S,
            Stumpp S, Keith M, Figge U, Schnolzer M and Franke WW.
  TITLE     Cell type-specific desmosomal plaque proteins of the plakoglobin
            family: plakophilin 1 (band 6 protein)
  JOURNAL   Differentiation 58 (2), 113-131 (1994)
   PUBMED   7890138
REFERENCE   10  (bases 1 to 5326)
  AUTHORS   Hatzfeld M, Kristjansson GI, Plessmann U and Weber K.
  TITLE     Band 6 protein, a major constituent of desmosomes from stratified
            epithelia, is a novel member of the armadillo multigene family
  JOURNAL   J Cell Sci 107 (Pt 8), 2259-2270 (1994)
   PUBMED   7527055
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1283979.1,
            SRR18074969.2120016.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367324.8/ ENSP00000356293.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC119427.3 and KF459531.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001005337.2.
            Summary: This gene encodes a member of the arm-repeat (armadillo)
            and plakophilin gene families. Plakophilin proteins contain
            numerous armadillo repeats, localize to cell desmosomes and nuclei,
            and participate in linking cadherins to intermediate filaments in
            the cytoskeleton. This protein may be involved in molecular
            recruitment and stabilization during desmosome formation. Mutations
            in this gene have been associated with the ectodermal
            dysplasia/skin fragility syndrome. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2010].
            Transcript Variant: This variant (1a) represents the shorter
            transcript variant as compared to variant 1b.  It encodes the
            shorter protein (isoform 1a), compared to isoform 1b.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5326
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..5326
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /note="plakophilin 1"
                     /db_xref="GeneID:5317"
                     /db_xref="HGNC:HGNC:9023"
                     /db_xref="MIM:601975"
     misc_feature    162..164
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /note="upstream in-frame stop codon"
     CDS             198..2378
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /note="isoform 1a is encoded by transcript variant 1a; band
                     6 protein"
                     /codon_start=1
                     /product="plakophilin-1 isoform 1a"
                     /protein_id="NP_001005337.1"
                     /db_xref="CCDS:CCDS30967.1"
                     /db_xref="GeneID:5317"
                     /db_xref="HGNC:HGNC:9023"
                     /db_xref="MIM:601975"
                     /translation="MNHSPLKTALAYECFQDQDNSTLALPSDQKMKTGTSGRQRVQEQV
                     MMTVKRQKSKSSQSSTLSHSNRGSMYDGLADNYNYGTTSRSSYYSKFQAGNGSWGYPIY
                     NGTLKREPDNRRFSSYSQMENWSRHYPRGSCNTTGAGSDICFMQKIKASRSEPDLYCDP
                     RGTLRKGTLGSKGQKTTQNRYSFYSTCSGQKAIKKCPVRPPSCASKQDPVYIPPISCNK
                     DLSFGHSRASSKICSEDIECSGLTIPKAVQYLSSQDEKYQAIGAYYIQHTCFQDESAKQ
                     QVYQLGGICKLVDLLRSPNQNVQQAAAGALRNLVFRSTTNKLETRRQNGIREAVSLLRR
                     TGNAEIQKQLTGLLWNLSSTDELKEELIADALPVLADRVIIPFSGWCDGNSNMSREVVD
                     PEVFFNATGCLRNLSSADAGRQTMRNYSGLIDSLMAYVQNCVAASRCDDKSVENCMCVL
                     HNLSYRLDAEVPTRYRQLEYNARNAYTEKSSTGCFSNKSDKMMNNNYDCPLPEEETNPK
                     GSGWLYHSDAIRTYLNLMGKSKKDATLEACAGALQNLTASKGLMSSGMSQLIGLKEKGL
                     PQIARLLQSGNSDVVRSGASLLSNMSRHPLLHRVMGNQVFPEVTRLLTSHTGNTSNSED
                     ILSSACYTVRNLMASQPQLAKQYFSSSMLNNIINLCRSSASPKAAEAARLLLSDMWSSK
                     ELQGVLRQQGFDRNMLGTLAGANSLRNFTSRF"
     regulatory      5302..5307
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /note="hexamer: AATAAA"
     polyA_site      5326
                     /gene="PKP1"
                     /gene_synonym="B6P; EDSFS"
                     /note="major polyA site"
ORIGIN
        1 agtgccagag agggacgaac cagggtggaa gcgccaggag cagctgcagg gagccctcac
       61 gcggaccacg cactctatgg ccgtagggag ccgctgagag cgagaagagc acgctcctgc
      121 ccgcccgctg caccgcacct cgcctcgcct ctctgctctc ctaggccccg gccgcgcgcc
      181 acccgcctcc cgccaccatg aaccactcgc cgctcaagac cgccttggcg tacgaatgct
      241 tccaggacca ggacaactcc acgttggctt tgccgtcgga ccaaaagatg aaaacaggca
      301 cgtctggcag gcagcgcgtg caggagcagg tgatgatgac cgtcaagcgg cagaagtcca
      361 agtcttccca gtcgtccacc ctgagccact ccaatcgagg ttccatgtat gatggcttgg
      421 ctgacaatta caactatggg accaccagca ggagcagcta ctactccaag ttccaggcag
      481 ggaatggctc atggggatat ccgatctaca atggaaccct caagcgggag cctgacaaca
      541 ggcgcttcag ctcctacagc cagatggaga actggagccg gcactacccc cggggcagct
      601 gtaacaccac cggcgcaggc agcgacatct gcttcatgca gaaaatcaag gcgagccgca
      661 gtgagcccga cctctactgt gacccacggg gcaccctgcg caagggcacg ctgggcagca
      721 agggccagaa gaccacccag aaccgctaca gcttttacag cacctgcagt ggtcagaagg
      781 ccataaagaa gtgccctgtg cgcccgccct cttgtgcctc caagcaggac cctgtgtata
      841 tcccgcccat ctcctgcaac aaggacctgt cctttggcca ctctagggcc agctccaaga
      901 tctgcagtga ggacatcgag tgcagtgggc tgaccatccc caaggctgtg cagtacctga
      961 gctcccagga tgagaagtac caggccattg gggcctatta catccagcat acctgcttcc
     1021 aggatgaatc tgccaagcaa caggtctatc agctgggagg catctgcaag ctggtggacc
     1081 tcctccgcag ccccaaccag aacgtccagc aggccgcggc aggggccctg cgcaacctgg
     1141 tgttcaggag caccaccaac aagctggaga cccggaggca gaatgggatc cgcgaggcag
     1201 tcagcctcct gaggagaacc gggaacgccg agatccagaa gcagctgact gggctgctct
     1261 ggaacctgtc ttccactgac gagctgaagg aggaactcat tgccgacgcc ctgcctgttc
     1321 tggccgaccg cgtcatcatt cccttctctg gctggtgcga tggcaatagc aacatgtccc
     1381 gggaagtggt ggaccctgag gtcttcttca atgccacagg ctgcttgagg aacctgagct
     1441 cggccgatgc aggccgccag accatgcgta actactcagg gctcattgat tccctcatgg
     1501 cctatgtcca gaactgtgta gcggccagcc gctgtgacga caagtctgtg gaaaactgca
     1561 tgtgtgttct gcacaacctc tcctaccgcc tggacgccga ggtgcccacc cgctaccgcc
     1621 agctggagta taacgcccgc aacgcctaca ccgagaagtc ctccactggc tgcttcagca
     1681 acaagagcga caagatgatg aacaacaact atgactgccc cctgcctgag gaagagacca
     1741 accccaaggg cagcggctgg ttgtaccatt cagatgccat ccgcacctac ctgaacctca
     1801 tgggcaagag caagaaagat gctaccctgg aggcctgtgc tggtgccctg cagaacctga
     1861 cagccagcaa ggggctgatg tccagtggca tgagccagtt gattgggctg aaggaaaagg
     1921 gcctgccaca aattgcccgc ctcctgcaat ctggcaactc tgatgtggtg cggtccggag
     1981 cctccctcct gagcaacatg tcccgccacc ctctgctgca cagagtgatg gggaaccagg
     2041 tgttcccgga ggtgaccagg ctcctcacca gccacactgg caataccagc aactccgaag
     2101 acatcttgtc ctcggcctgc tacactgtga ggaacctgat ggcctcgcag ccacaactgg
     2161 ccaagcagta cttctccagc agcatgctca acaacatcat caacctgtgc cgaagcagtg
     2221 cctcacccaa ggccgcagaa gctgcccggc ttctcctgtc tgacatgtgg tccagcaagg
     2281 aactgcaggg tgtcctcaga cagcaaggtt tcgataggaa catgctggga accttagctg
     2341 gggccaacag cctcaggaac ttcacctccc gattctaaga agagactgtc caagcaagtt
     2401 aggcttgcag gaagatatga cccagctgag aagccctcag gcctcgctgg atggggtttt
     2461 ctgtccatcc tatgcagtat ttgggaaagt tcacaagaaa ctgagaagaa acctaaaaac
     2521 tgtggatagt ggaaagattt ttagattttt tttttccttg gggaaactgg caggcaatgg
     2581 gggttaggga ggttggggcg gtgggggctt tcttgagtta aaggggctta tatgtgatgt
     2641 caatatttct tcctctgaga aatggtatat atatgtgtat aatgtaagtg tgtgcatgca
     2701 tgtgcgcgtg catgtgtgtg tgtgtgagtg tcttaaagca taaccacaaa ctgcaaaaag
     2761 ctaggtaagc tattttgttg cagctcataa ggtggtgaaa aggactctcc tgtgtttctt
     2821 actcataggc aaggacaaca tgtgcttttt ggtgagctgc tcataattcc tgaaatgtgt
     2881 ggtgccaggg caagggggcc atcactgcag tcaggccctc agaggagtcc tgcaggcttc
     2941 ctaccagtgg tctccagggg tgcaggagta actggggctg ggccagcctc cccacttaca
     3001 aggctgcttt ccaggaaggg aggtctggtg tatctcatgg gagaatctgg ggtgtctgta
     3061 atgtcacccc tccagcagcg ccacaaggac tgaggttggg taggtgtggg gttccagagg
     3121 acagcaggac actctcgcat actttgccaa atgaggcctg ctcagaggag taggagctga
     3181 aagatggtgc cttccaccct cttgggctgt gtgcccatca gagcaggctc agcctgcaaa
     3241 ggccctgcat tcagaggtct tgtaatctac ttgttgcagg agaaagaagg taaaaaatga
     3301 tttttttaag aaaagctatt ttattgcagc tctttcccaa gagctgttct gggaatggct
     3361 ggtcttcata ttcccagtgg agaggggaac aagtggggct gggcatatac ctattccggc
     3421 ttctagtggg atggagttgg ggtatagaaa ttaaccagga agatgtttcc accaagcctg
     3481 ctgtgagtca attgagggag tgtttggggt cccaggagac ttggacgggg ggagtttggg
     3541 tagactagga aaggaaagtg ccatatcagg gtaccggtac cggcaagctc acatctcagc
     3601 caggggccat gccccacttc ccctgacccc agctgtcttg tctccactct gtgaaaccca
     3661 caggggatgt gataaacagg gctattaggg gtatcagcca cgtcgagccc ccagactctg
     3721 tgcacttcag accagcagca gcaggagggc tcccgagggc cttatgagaa aacctgtgtg
     3781 gacatccctt ggtgtacact aagacagagc agagcccagc gctcccaagc cttcctcctt
     3841 ccagcttcta cctccatgct agcattgctg gtgttagaga ggaattaact tcctggtctg
     3901 tgcccttctc tagaagaata taagatgctc ctcctcctca ccccttctca gcctcctccc
     3961 aagtcttcct cttctgcacc acccccgagt ccaaacccac ctcttgcccc agcattcagg
     4021 ctggaaaaca ctgatgtgga ctcagtatga taactgagat gggggacgcc agacatgtga
     4081 ggacgctgtc ctccgagagg tgtccccggc tgttagccag ctgtgctgtg gtgctgtggg
     4141 tctgtcatac cctcccttgc ttctgttcac actgggaggc ccactcctgg ctcacctctc
     4201 cctctcaggg acccacgtgg gagcctggat ccctggactg tcctgggcat aggtttcagg
     4261 ggcctccttt gttgtcatca gaacccagag gaattcttct cctaaaaaat acgtatggca
     4321 taccaatctg tgcggggcag tgtcctaagc acttagacta catcagggaa gaacacagac
     4381 cacatccctg tcctcatgcg gcttatgttt tctggaggaa agtggagaca caagtccttg
     4441 gctttagggc tcccccggct gggggctgtg cagtccggtc agggcgggag gggaaatgca
     4501 ccgctgcatg tgaaccttac cagcccaggc ggatgcccct tccccttagc actaccctgg
     4561 cctcctgcat cccctcgcct catgttcctc ccaccttcaa agaatgaaga gccccatggg
     4621 cccagcccct gccctgggaa ccaggcagcc ttccagacct caggggctga ggcagactat
     4681 tagggcaggg ctgactttgg tgacactgcc cattccctct caggccagct caggtcaccc
     4741 gggcctctga cccaggcctg tcactttgag aggggcaaaa ctgagagggg cttttcctag
     4801 agaaagagaa caaggagctt gccaggcttc atgtagccga cacacgtctc aggattttaa
     4861 gtccacattg gcctcacact accagggcca atgcccaaaa taaggagttc caatttgggg
     4921 ccaaatgagg aaggacacag actctgccct gggatctcct gtgctagcgg ccaatgacaa
     4981 atccagtcat tggccaccag ccacctctgc agtggggacc acactagcag ccctgactcc
     5041 acactcctcc tggggaccca agaggcagtg ttgctgtctg catgtccacc ttggaatctg
     5101 gctgaactgg ctggcaggac caagactgcg gctggggtgg gcagggaagg gaagccgggg
     5161 gctgctgtga gggatcttgg agcttccctg tagcccacct tccccttgct tcatgtttgt
     5221 agaggaacct tgtgccggcc aggcccagtt tccttgtgtg atacactaat gtatttgctt
     5281 tttttggaaa tagagaaaat caataaattg ctagtgtttc tttgaa
//
LOCUS       NM_001005338            5999 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily H member 1
            (OR5H1), mRNA.
ACCESSION   NM_001005338
VERSION     NM_001005338.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5999)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 5999)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5999)
  AUTHORS   Parmentier M, Libert F, Schurmans S, Schiffmann S, Lefort A,
            Eggerickx D, Ledent C, Mollereau C, Gerard C, Perret J et al.
  TITLE     Expression of members of the putative olfactory receptor gene family
            in mammalian germ cells
  JOURNAL   Nature 355 (6359), 453-455 (1992)
   PUBMED   1370859
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641874.1/ ENSP00000492953.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC117460.7.
            On Aug 6, 2020 this sequence version replaced NM_001005338.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5999
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     gene            1..5999
                     /gene="OR5H1"
                     /gene_synonym="HSHTPCRX14; HTPCRX14"
                     /note="olfactory receptor family 5 subfamily H member 1"
                     /db_xref="GeneID:26341"
                     /db_xref="HGNC:HGNC:8346"
     misc_feature    98..100
                     /gene="OR5H1"
                     /gene_synonym="HSHTPCRX14; HTPCRX14"
                     /note="upstream in-frame stop codon"
     CDS             149..1090
                     /gene="OR5H1"
                     /gene_synonym="HSHTPCRX14; HTPCRX14"
                     /codon_start=1
                     /product="olfactory receptor 5H1"
                     /protein_id="NP_001005338.1"
                     /db_xref="CCDS:CCDS33797.1"
                     /db_xref="GeneID:26341"
                     /db_xref="HGNC:HGNC:8346"
                     /translation="MEEENATLLTEFVLTGFLYQPQWKIPLFLAFLVIYLITIMGNLGL
                     IAVIWKDPHLHIPMYLLLGNLAFVDAWISSTVTPKMLNNFLAKSKMISLSECKIQFFSF
                     AISVTTECFLLATMAYDRYVAICKPLLYPAIMTNGLCIRLLILSYVGGILHALIHEGFL
                     FRLTFCNSNIVHHIYCDTIPLSKISCTDSSINFLMVFIFSGSIQVFSIVTILVSYTFVL
                     FAILKKKSDKGVRKAFSTCGAHLFSVSLYYGPLLFIYVGPASPQADDQDMVEPLFYTVI
                     IPLLNPIIYSLRNKQVTVSFTKMLKKHVKVSY"
     misc_feature    161..163
                     /gene="OR5H1"
                     /gene_synonym="HSHTPCRX14; HTPCRX14"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NKK0.1); glycosylation site"
     misc_feature    233..295
                     /gene="OR5H1"
                     /gene_synonym="HSHTPCRX14; HTPCRX14"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKK0.1);
                     transmembrane region"
     misc_feature    317..379
                     /gene="OR5H1"
                     /gene_synonym="HSHTPCRX14; HTPCRX14"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKK0.1);
                     transmembrane region"
     misc_feature    443..505
                     /gene="OR5H1"
                     /gene_synonym="HSHTPCRX14; HTPCRX14"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKK0.1);
                     transmembrane region"
     misc_feature    578..640
                     /gene="OR5H1"
                     /gene_synonym="HSHTPCRX14; HTPCRX14"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKK0.1);
                     transmembrane region"
     misc_feature    734..796
                     /gene="OR5H1"
                     /gene_synonym="HSHTPCRX14; HTPCRX14"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKK0.1);
                     transmembrane region"
     misc_feature    869..931
                     /gene="OR5H1"
                     /gene_synonym="HSHTPCRX14; HTPCRX14"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKK0.1);
                     transmembrane region"
     misc_feature    962..1024
                     /gene="OR5H1"
                     /gene_synonym="HSHTPCRX14; HTPCRX14"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKK0.1);
                     transmembrane region"
ORIGIN
        1 aaccttcaaa aagaatgaat atgccatgaa tggctacctg tattattgac attgctgtgc
       61 tactgtatgt atttttgttt agaaagcaca acgtgtttaa aggatatcca caatttcctt
      121 caatatatgg agggcatgct gtgaggacat ggaagaggaa aatgcaacat tgctgacaga
      181 gtttgttctc acaggatttt tatatcaacc acagtggaaa atacccctgt tcctggcatt
      241 cttggtaata tatctcatca ccatcatggg gaatcttggt ctgattgctg tcatctggaa
      301 agaccctcac cttcatatcc caatgtactt actccttggg aatttagctt ttgtggatgc
      361 ttggatatca tccacagtga ccccaaagat gctgaataac ttcttagcta agagtaagat
      421 gatatctctc tctgaatgca agatacagtt tttttcgttt gcaatcagtg taaccacgga
      481 atgttttctc ttggcaacga tggcatatga tcgctatgta gccatatgca aacctttact
      541 ttatccagcc attatgacca atggactgtg catccggcta ttaatcttgt catatgtagg
      601 tggtattctt catgctttaa tccatgaagg atttttattc agactaacct tctgtaactc
      661 caacatagta catcacattt actgtgacac tatcccattg tctaagattt cttgtactga
      721 ttcttctatt aattttctaa tggtttttat tttctcaggt tcaattcagg tattcagcat
      781 tgtgactatt cttgtatctt atacatttgt tctcttcgca atcttaaaaa agaaatctga
      841 taaaggtgta aggaaagcct tttccacctg tggagcccat ctcttctctg tctctttata
      901 ctatggaccc cttctcttca tttatgtggg ccctgcatct ccgcaagcag atgatcaaga
      961 tatggtggag cctctattct acactgtcat cattcctttg ttaaatccta tcatctacag
     1021 tctgagaaat aagcaagtca cagtttcatt cacaaaaatg ttaaaaaaac atgttaaggt
     1081 ttcatactaa tatcctttct ctaattacaa aaatagtcac aaaattatgc aagttagagg
     1141 tacctatgtt gtttccagtg ttcaaacatt tttgcaagta caactgttct agcactttag
     1201 tgagctaatg ttttagtacc taataaacta atcgcaatat gtctatatgt tattcaaaag
     1261 cattcaagaa attttcatac tgttcataat agaataatga ctgtagaaat caaataaaac
     1321 tatttaacag ttgtatatgt tattcaatgt gcatttataa atgcattaat tgctaaaata
     1381 gcctagttta tcatataagg acttgagtat gatggttttg atactaatac tactgaatta
     1441 cctgcgatat ccatcatata ccataactga ggcagatttg tttttgagtg aacagaggta
     1501 agtcccaatg attctgctaa ccatcaaggt cttccatttc attatattag gaaagggtga
     1561 attctgtttc ttgaaggaag tcaactcgca ggtcagacag aaatggaaat gcaatgagaa
     1621 aaataaaaat agaaggaatg aacagtgaag gcactgccat agtgtaagag catgctctta
     1681 actctatgtg ctcgtatgag taagaagagg caagctgcct ctcactttct aggatggctt
     1741 ctaaggccct tcccagctat gattatatga ttttagacaa cctggaagcc ttccctaatt
     1801 caggaaatta aaagattaaa tagaataact gcatttggag tagacataga gaagaaataa
     1861 gtatcataaa agaaagaaag tggtcttaat gtttttatga tgaagctacc aagatgtgta
     1921 aaaatcaata atattgcaag gttgttggaa tgtgttgtta tcaacaagaa gttttaaatg
     1981 cctgtcatgt aagttcaaat aatgttaaca tgatacgaca tcatggtgcc cagcaagagg
     2041 aagcaaaaac aaaaaaatga ggtaagattt tggagatttt ttgcctcgga aagtcattga
     2101 ttgttaacct tcttaacact tcttgtactt caagtatgtt aatcatcttt ctaccagtcc
     2161 accctctcct tcatctttca atactgaaat tcctttcaca ttctcactga tactattgag
     2221 gtccctagca taaaaactac tcacatgtag ttttgcaaac ctctagttac ttatttcctc
     2281 catccttcta acagtcactc acttccccaa aatggctgtt agattgtttt ttcaaatgga
     2341 actctaacta attatatccc tcttcaattc cttttgttag attgtcattg ctaccagatt
     2401 atatgcatgt atgttttagg tatcttatat ctatatgtat acatatgcat atgtttagtt
     2461 tttcatatgt atacatagtg atacaagata tatattagta cttatatagt taaaatacaa
     2521 atgtagcagc attagaattt agagtttatc tgaggagact cgatttattt tgcaacacca
     2581 gattgcatgt ggtatgggga tttcctgaag gtgcaagaga ggagataaag gcttttacag
     2641 ggcaaatgtg aaagtatggc aaaagtaaag attgtattgg ttaaagtgga gcagtagtgt
     2701 tattttgatc attccagtgg aaaattccta gttagaaatt agctggggtt tttggttggt
     2761 taaagttaac ttttgtttta ccatttacaa tgagttggat tcctgtttgc ttaggtacaa
     2821 acccactttg ctggacccac gtcagcctga tatactttta tttaattatt ttaactcatt
     2881 atggtcagcc tctcattatg ggatattgac taaaactcag gcatacttgc actctctgtg
     2941 gccagcacag ctggtttgtc tttgtctcag catggaactc ataagttaca atgtctggtc
     3001 tcttacagaa gtgtttcttt tatggacact tcgtttttgt tattctaatc atagtgagaa
     3061 aatctggcac agtgtagtgg ctacaaactt gtatttaaaa ctcttgagag aatacaacac
     3121 accaagaaga tgacaatgac tatcacaaac atagtaccaa gggactgggg tatgctccat
     3181 agccaaagta cgtatgaaca aaaccaactg aaataaacca aatgaaaata ataaaaggtt
     3241 aatggttaaa actacctata agcttagcat gtgagccaga gggcagttag ttgagaagac
     3301 ttttagattt aagctcaaag catctttaga tgatgaaata aaatggcagt tgcagtctga
     3361 taatttttct gttttttagt ctgaatgtct tttgtcatgt cattgaatgt ttggtgaact
     3421 tcctgagtgg gacactaagc atcatgcatg aagattatcc tctgacattt atatcaagtt
     3481 gtccagccct agcttgtagc gcttcaggaa taggacagtt tctaagtaga taataaaaca
     3541 tcaaagacaa tggacagaac tggaatttaa ttatgggtgc gctatatttt tctactgaaa
     3601 catgattttt ccctccataa tcaggccatt tctttcaaat gtaattatag taagactaat
     3661 ttatttacca actagatcta ccctcattaa gcttcaagtg agtatttaca taagtgcaag
     3721 ttggaatagg aattgatcat ctctttttaa gaaggcctca ttacgacctt tactaaataa
     3781 tctccgatta gactttaaag tttcttcaag ctataaagtc acaccaacaa cataccatta
     3841 gtttcacctg caacactgat acatttaggt aaactcccct gtactcaaaa aggtcctaaa
     3901 agtatatttc agttcctggg ccttccagag agtaaggtct ttcttcctct ttaccaatat
     3961 ggctagaaag cttgtgagca gctatcagcc cagattttct aaaggaactg gctgtagtta
     4021 tttttctgat acctgcaaat ctcatattaa aatttgattc caaattctgg aggtgtcgaa
     4081 gatgggaggt gtttgggtca tgggggtcga tctctcatga atgccttggt gccatcatca
     4141 tagtaataag catgttctta ctgtcttagt tcccatgagg gctggttgat aaaagagccc
     4201 agcactccac tctctctctt tcctttcctc tctcaccacg tgatcaccac acttgccagc
     4261 tccacttcgc ctgctgtcat gagtgaagta ggctgaagct gtcatcagaa gtggacattt
     4321 aagccttgtt ttctgtatag cctgcagaat tgttctccaa acaaacacct tttacttata
     4381 aattacccag cctcaagaat ttctttattg caacactaaa tggaatgagg cagggcttaa
     4441 ttggatgcat aaagtcaatt cttagtttct taaaattctc cagtcatatc taattttatg
     4501 cacattctcc aatgtgacat tccagtcaca gtagtggtaa tataaccata attatgttat
     4561 attgtaataa cagattctga ttaaaatttt gcaaatacct atattgcaat caaaataaaa
     4621 atgctcaatg atgatttctg aattctggag aggtcagcta aggagaagaa ggtaaacgta
     4681 ttaattctgt ttacaaaagg tatacttggc cagattgttt gcaaagtttc tttaattctg
     4741 gtctcgtgtt gtgtttctaa cgttatcaga aatctttact tgtcagagcc ttttccgcaa
     4801 atctgttgag attagacaga tactttgcat acagggatgt ttcctttatg ttatttagtg
     4861 gtatttatta ccacacatta actagaattc taaactctta gtaactttct tttctgggat
     4921 agaagcgatt gacaaatata catcacaccg gcattttaca gattggcaaa tctacgaata
     4981 tacaatttca taattcctag aagtatgtgc tttcccatta tataattttt cagtgtgcca
     5041 caggacatgt tgaacacaaa tatgaacaca aaagtgaacc caaatatctt tgtttcttct
     5101 gtaataagaa gtccaaaata gagaagtgta tgttcagcaa ttagtctttt aaaaaaatgt
     5161 tgtttggaaa taatccagat attcaatgac tattgataat ttaatcaact gtgtgaaact
     5221 ctaagggttt aatttaccac agagaagtgg gaaggtattt ttaagtagac ttcttattaa
     5281 acataattat ggtttaaaag ttcatttata aacgtatatt gtacttacat ctatttaatt
     5341 cacttattct gaattgtttg gtttactcat gaaaatttca taagacatta gacacagcca
     5401 gtcatcgttt caaattactt tcttgttaac tacatttaca gcacgtttat gtcagtgtag
     5461 caggacgagc cgtgggcaaa acccctcaga caccgagata gtgaagggag tggctttaat
     5521 cagatgggag catcgatagg ctagcgtctt aaaatccgag ctcgtcaggt gctcaacttc
     5581 tgtccctttt aagggctcac aactctaagg gggtccgcgt gagagggtcg tgatcgattg
     5641 agcaagccag ggggtacgtg acaggggctg cgagcaccgg tggtcagagt gaaacagaac
     5701 agaacgggag gtttcacaat gtcctaccat acgatgtctg gaatctatag ataacaacag
     5761 ttgctaggtg aggggtcgaa ttttaacaac caggcttagg tcaggcaggc ccaggcctgg
     5821 tttcgggtct ggttcctaga cgccaggcta cctgccttta gtttcacttc tctttccttt
     5881 tctgagtata aaacaatata aaacaatatg agagggtctc tctcttccct catcagtcag
     5941 tcatcataaa agcaaaaatc taaaagtcaa atatgtgttt ttttgtttta ttgccgtgc
//
LOCUS       NM_001005339             923 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens regulator of G protein signaling 10 (RGS10), transcript
            variant 1, mRNA.
ACCESSION   NM_001005339
VERSION     NM_001005339.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 923)
  AUTHORS   Caldiran FY and Cacan E.
  TITLE     RGS10 suppression by DNA methylation is associated with low survival
            rates in colorectal carcinoma
  JOURNAL   Pathol Res Pract 236, 154007 (2022)
   PUBMED   35810565
  REMARK    GeneRIF: RGS10 suppression by DNA methylation is associated with low
            survival rates in colorectal carcinoma.
REFERENCE   2  (bases 1 to 923)
  AUTHORS   Houser MC, Caudle WM, Chang J, Kannarkat GT, Yang Y, Kelly SD,
            Oliver D, Joers V, Shannon KM, Keshavarzian A and Tansey MG.
  TITLE     Experimental colitis promotes sustained, sex-dependent,
            T-cell-associated neuroinflammation and parkinsonian neuropathology
  JOURNAL   Acta Neuropathol Commun 9 (1), 139 (2021)
   PUBMED   34412704
  REMARK    GeneRIF: Experimental colitis promotes sustained, sex-dependent,
            T-cell-associated neuroinflammation and parkinsonian neuropathology.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 923)
  AUTHORS   Chinn IK, Xie Z, Chan EC, Nagata BM, Koval A, Chen WS, Zhang F,
            Ganesan S, Hong DN, Suzuki M, Nardone G, Moore IN, Katanaev VL,
            Balazs AE, Liu C, Lupski JR, Orange JS and Druey KM.
  TITLE     Short stature and combined immunodeficiency associated with
            mutations in RGS10
  JOURNAL   Sci Signal 14 (693) (2021)
   PUBMED   34315806
  REMARK    GeneRIF: Short stature and combined immunodeficiency associated with
            mutations in RGS10. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 923)
  AUTHORS   Kucuk B, Kibar B and Cacan E.
  TITLE     A broad analysis in clinical and in vitro models on regulator of
            G-protein signalling 10 regulation that is associated with ovarian
            cancer progression and chemoresistance
  JOURNAL   Cell Biochem Funct 39 (3), 413-422 (2021)
   PUBMED   33354811
  REMARK    GeneRIF: A broad analysis in clinical and in vitro models on
            regulator of G-protein signalling 10 regulation that is associated
            with ovarian cancer progression and chemoresistance.
REFERENCE   5  (bases 1 to 923)
  AUTHORS   Almutairi F, Lee JK and Rada B.
  TITLE     Regulator of G protein signaling 10: Structure, expression and
            functions in cellular physiology and diseases
  JOURNAL   Cell Signal 75, 109765 (2020)
   PUBMED   32882407
  REMARK    GeneRIF: Regulator of G protein signaling 10: Structure, expression
            and functions in cellular physiology and diseases. Review article
REFERENCE   6  (bases 1 to 923)
  AUTHORS   Popov SG, Krishna UM, Falck JR and Wilkie TM.
  TITLE     Ca2+/Calmodulin reverses phosphatidylinositol 3,4,
            5-trisphosphate-dependent inhibition of regulators of G
            protein-signaling GTPase-activating protein activity
  JOURNAL   J Biol Chem 275 (25), 18962-18968 (2000)
   PUBMED   10747990
REFERENCE   7  (bases 1 to 923)
  AUTHORS   Tu Y, Popov S, Slaughter C and Ross EM.
  TITLE     Palmitoylation of a conserved cysteine in the regulator of G protein
            signaling (RGS) domain modulates the GTPase-activating activity of
            RGS4 and RGS10
  JOURNAL   J Biol Chem 274 (53), 38260-38267 (1999)
   PUBMED   10608901
REFERENCE   8  (bases 1 to 923)
  AUTHORS   Tu Y, Wang J and Ross EM.
  TITLE     Inhibition of brain Gz GAP and other RGS proteins by palmitoylation
            of G protein alpha subunits
  JOURNAL   Science 278 (5340), 1132-1135 (1997)
   PUBMED   9353196
REFERENCE   9  (bases 1 to 923)
  AUTHORS   Popov S, Yu K, Kozasa T and Wilkie TM.
  TITLE     The regulators of G protein signaling (RGS) domains of RGS4, RGS10,
            and GAIP retain GTPase activating protein activity in vitro
  JOURNAL   Proc Natl Acad Sci U S A 94 (14), 7216-7220 (1997)
   PUBMED   9207071
REFERENCE   10  (bases 1 to 923)
  AUTHORS   Hunt TW, Fields TA, Casey PJ and Peralta EG.
  TITLE     RGS10 is a selective activator of G alpha i GTPase activity
  JOURNAL   Nature 383 (6596), 175-177 (1996)
   PUBMED   8774883
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.501958.1,
            SRR5189661.1739.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369103.3/ ENSP00000358099.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012468.10, CB124184.1,
            BC009361.2, BF685740.1, BM914660.1, BM782346.1, BG763741.1,
            AL547312.3, CB112318.1, AI219612.1 and AL355273.30.
            On Nov 22, 2018 this sequence version replaced NM_001005339.1.
            Summary: Regulator of G protein signaling (RGS) family members are
            regulatory molecules that act as GTPase activating proteins (GAPs)
            for G alpha subunits of heterotrimeric G proteins. RGS proteins are
            able to deactivate G protein subunits of the Gi alpha, Go alpha and
            Gq alpha subtypes. They drive G proteins into their inactive
            GDP-bound forms. Regulator of G protein signaling 10 belongs to
            this family. All RGS proteins share a conserved 120-amino acid
            sequence termed the RGS domain. This protein associates
            specifically with the activated forms of the two related G-protein
            subunits, G-alphai3 and G-alphaz but fails to interact with the
            structurally and functionally distinct G-alpha subunits. Regulator
            of G protein signaling 10 protein is localized in the nucleus. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..923
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.11"
     gene            1..923
                     /gene="RGS10"
                     /note="regulator of G protein signaling 10"
                     /db_xref="GeneID:6001"
                     /db_xref="HGNC:HGNC:9992"
                     /db_xref="MIM:602856"
     CDS             82..627
                     /gene="RGS10"
                     /note="isoform a is encoded by transcript variant 1;
                     regulator of G-protein signalling 10"
                     /codon_start=1
                     /product="regulator of G-protein signaling 10 isoform a"
                     /protein_id="NP_001005339.1"
                     /db_xref="CCDS:CCDS31294.1"
                     /db_xref="GeneID:6001"
                     /db_xref="HGNC:HGNC:9992"
                     /db_xref="MIM:602856"
                     /translation="MFNRAVSRLSRKRPPSDIHDSDGSSSSSHQSLKSTAKWAASLENL
                     LEDPEGVKRFREFLKKEFSEENVLFWLACEDFKKMQDKTQMQEKAKEIYMTFLSSKASS
                     QVNVEGQSRLNEKILEEPHPLMFQKLQDQIFNLMKYDSYSRFLKSDLFLKHKRTEEEEE
                     DLPDAQTAAKRASRIYNT"
     misc_feature    82..177
                     /gene="RGS10"
                     /note="propagated from UniProtKB/Swiss-Prot (O43665.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    151..153
                     /gene="RGS10"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O43665.3); phosphorylation site"
     misc_feature    202..204
                     /gene="RGS10"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CQE5; propagated from
                     UniProtKB/Swiss-Prot (O43665.3); phosphorylation site"
     misc_feature    553..624
                     /gene="RGS10"
                     /note="propagated from UniProtKB/Swiss-Prot (O43665.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    607..609
                     /gene="RGS10"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:11443111; propagated from
                     UniProtKB/Swiss-Prot (O43665.3); phosphorylation site"
     regulatory      775..780
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RGS10"
                     /note="hexamer: AGTAAA"
     regulatory      803..808
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RGS10"
                     /note="hexamer: CATAAA"
     polyA_site      812
                     /gene="RGS10"
                     /note="major polyA site"
     regulatory      817..822
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RGS10"
                     /note="hexamer: AATAAT"
     polyA_site      824
                     /gene="RGS10"
                     /note="major polyA site"
     polyA_site      869
                     /gene="RGS10"
     regulatory      893..898
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RGS10"
                     /note="hexamer: ATTAAA"
     polyA_site      923
                     /gene="RGS10"
ORIGIN
        1 ctcctcctcc tcctcgcctt cctccggctc agccgccgcg ccgccgggct gctccttctt
       61 cctcctcggg cgcccgcggc gatgttcaac cgcgccgtga gccggctgag caggaagcgg
      121 ccgccgtcag acatccacga cagcgatggc agttccagca gcagccacca gagcctcaag
      181 agcacagcca aatgggcggc atccctggag aatctgctgg aagacccaga aggcgtgaaa
      241 agatttaggg aatttttaaa aaaggaattc agtgaagaaa atgttttgtt ttggctagca
      301 tgtgaagatt ttaagaaaat gcaagataag acgcagatgc aggaaaaggc aaaggagatc
      361 tacatgacct ttctgtccag caaggcctca tcacaggtca acgtggaggg gcagtctcgg
      421 ctcaacgaga agatcctgga agaaccgcac cctctgatgt tccagaaact ccaggaccag
      481 atctttaatc tcatgaagta cgacagctac agccgcttct taaagtctga cttgttttta
      541 aaacacaagc gaaccgagga agaggaagaa gatttgcctg atgctcaaac tgcagctaaa
      601 agagcttcca gaatttataa cacatgagcc cccaaaaagc cgggactggc agctttaaga
      661 agcaaaggaa tttcctctca ggaccgtgcc gggtttatca ttgctttgtt atttgtaagg
      721 actgaaatgt acaaaaccct tcaatgggat gtgtgtttta ttaactgctt caccagtaaa
      781 ttttgcatga tggctaagct aacataaaaa aagaataata ataacttgga agttttagtt
      841 tacaaaacag agattccttc aacactggac acgtcgagca ttttgtagct taattaaacc
      901 tcatgtaagg ccacaaggtg aaa
//
LOCUS       NM_001005356            2204 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens POTE ankyrin domain family member G (POTEG), transcript
            variant 1, mRNA.
ACCESSION   NM_001005356
VERSION     NM_001005356.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2204)
  AUTHORS   Chang KW, Yang PY, Lai HY, Yeh TS, Chen TC and Yeh CT.
  TITLE     Identification of a novel actin isoform in hepatocellular carcinoma
  JOURNAL   Hepatol Res 36 (1), 33-39 (2006)
   PUBMED   16824795
REFERENCE   2  (bases 1 to 2204)
  AUTHORS   Bera TK, Huynh N, Maeda H, Sathyanarayana BK, Lee B and Pastan I.
  TITLE     Five POTE paralogs and their splice variants are expressed in human
            prostate and encode proteins of different lengths
  JOURNAL   Gene 337, 45-53 (2004)
   PUBMED   15276201
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY462874.1, SRR7346977.2934231.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968968, SAMEA2142586
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000547848.5/ ENSP00000450853.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY462874.1, AL512624.5, BC127623.1, AY465171.1 and CV341500.1.
            On May 17, 2019 this sequence version replaced NM_001005356.2.
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the functional protein.
FEATURES             Location/Qualifiers
     source          1..2204
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..2204
                     /gene="POTEG"
                     /gene_synonym="A26C2; ACTBL1; CT104.4; POTE-14; POTE14;
                     POTE14alpha; POTE22"
                     /note="POTE ankyrin domain family member G"
                     /db_xref="GeneID:404785"
                     /db_xref="HGNC:HGNC:33896"
                     /db_xref="MIM:608916"
     misc_feature    44..46
                     /gene="POTEG"
                     /gene_synonym="A26C2; ACTBL1; CT104.4; POTE-14; POTE14;
                     POTE14alpha; POTE22"
                     /note="upstream in-frame stop codon"
     CDS             53..1579
                     /gene="POTEG"
                     /gene_synonym="A26C2; ACTBL1; CT104.4; POTE-14; POTE14;
                     POTE14alpha; POTE22"
                     /note="protein expressed in prostate, ovary, testis, and
                     placenta 14; cancer/testis antigen family 104, member 4;
                     ANKRD26-like family C member 2; prostate, ovary,
                     testis-expressed protein on chromosome 14"
                     /codon_start=1
                     /product="POTE ankyrin domain family member G"
                     /protein_id="NP_001005356.1"
                     /db_xref="CCDS:CCDS73610.1"
                     /db_xref="GeneID:404785"
                     /db_xref="HGNC:HGNC:33896"
                     /db_xref="MIM:608916"
                     /translation="MVAEAGSMPAASSVKKPFGLRSKMGKWCRHCFPWCRGSGKSNVGT
                     SGDHDDSAMKTLRSKMGKWCRHCFPWCRGSSKSNVGTSGDHDDSAMKTLRSKMGKWCCH
                     CFPCCRGSGKSKVGPWGDYDDSAFMEPRYHVRREDLDKLHRAAWWGKVPRKDLIVMLKD
                     TDMNKKDKQKRTALHLASANGNSEVVKLLLDRRCQLNILDNKKRTALTKAVQCREDECA
                     LMLLEHGTDPNIPDEYGNTALHYAIYNEDKLMAKALLLYGADIESKNKHGLTPLLLGVH
                     EQKQQVVKFLIKKKANLNALDRYGRTALILAVCCGSASIVSLLLEQNIDVSSQDLSGQT
                     AREYAVSSHHNVICQLLSDYKEKQMLKVSSENSNPEQDLKLTSEEESQRLKGSENSQPE
                     EMSQEPEINKGGDRKVEEEMKKHGSTHMGFPENLPNGATADNGDDGLIPPRKSRTPESQ
                     QFPDTENEQYHSDEQNDTQKQLSEEQNTGILQDEILIHEEKQIEVAENEF"
     misc_feature    566..655
                     /gene="POTEG"
                     /gene_synonym="A26C2; ACTBL1; CT104.4; POTE-14; POTE14;
                     POTE14alpha; POTE22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6S5H5.5);
                     Region: ANK 1"
     misc_feature    665..754
                     /gene="POTEG"
                     /gene_synonym="A26C2; ACTBL1; CT104.4; POTE-14; POTE14;
                     POTE14alpha; POTE22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6S5H5.5);
                     Region: ANK 2"
     misc_feature    764..853
                     /gene="POTEG"
                     /gene_synonym="A26C2; ACTBL1; CT104.4; POTE-14; POTE14;
                     POTE14alpha; POTE22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6S5H5.5);
                     Region: ANK 3"
     misc_feature    863..952
                     /gene="POTEG"
                     /gene_synonym="A26C2; ACTBL1; CT104.4; POTE-14; POTE14;
                     POTE14alpha; POTE22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6S5H5.5);
                     Region: ANK 4"
     misc_feature    962..1051
                     /gene="POTEG"
                     /gene_synonym="A26C2; ACTBL1; CT104.4; POTE-14; POTE14;
                     POTE14alpha; POTE22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6S5H5.5);
                     Region: ANK 5"
     misc_feature    1151..1516
                     /gene="POTEG"
                     /gene_synonym="A26C2; ACTBL1; CT104.4; POTE-14; POTE14;
                     POTE14alpha; POTE22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6S5H5.5);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 ggtagacgcg atctgctggc tactaccggc ctcccctggc tgttaaaagc agatggtggc
       61 tgaggctggt tcaatgccgg ctgcctcctc tgtgaagaag ccatttggtc tcagaagcaa
      121 gatgggcaag tggtgccgcc actgcttccc ctggtgcagg gggagcggca agagcaacgt
      181 gggcacttct ggagaccacg acgattctgc tatgaagaca ctcaggagca agatgggcaa
      241 gtggtgccgc cactgcttcc cctggtgcag ggggagcagc aagagcaacg tgggcacttc
      301 tggagaccac gacgactctg ctatgaagac actcaggagc aagatgggca agtggtgctg
      361 ccactgcttc ccctgctgca gggggagcgg caagagcaaa gtgggccctt ggggagacta
      421 cgacgacagc gctttcatgg agccgaggta ccacgtccgt cgagaagatc tggacaagct
      481 ccacagagct gcctggtggg gtaaagtccc cagaaaggat ctcatcgtca tgctcaagga
      541 cactgacatg aacaagaagg acaagcaaaa gaggactgct ctacatctgg cctctgccaa
      601 tggaaattca gaagtagtaa aactcctgct ggacagacga tgtcaactta atatccttga
      661 caacaaaaag aggacagctc tgacaaaggc cgtacaatgc cgggaagatg aatgtgcgtt
      721 aatgttgctg gaacatggca ctgatccgaa tattccagat gagtatggaa ataccgctct
      781 acactatgct atctacaatg aagataaatt aatggccaaa gcactgctct tatacggtgc
      841 tgatatcgaa tcaaaaaaca agcatggcct cacaccactg ttacttggtg tacatgagca
      901 aaaacagcaa gtggtgaaat tcttaatcaa gaaaaaagca aatttaaatg cactggatag
      961 atatggaaga actgctctca tacttgctgt atgttgtgga tcggcaagta tagtcagcct
     1021 tctacttgag caaaacattg atgtatcttc tcaagatcta tctggacaga cggccagaga
     1081 gtatgctgtt tctagtcatc ataatgtaat ttgccagtta ctttctgact acaaagaaaa
     1141 acagatgcta aaagtctctt ctgaaaacag caatccagaa caagacttaa agctgacatc
     1201 agaggaagag tcacaaaggc ttaaaggaag tgaaaatagc cagccagagg aaatgtctca
     1261 agaaccagaa ataaataagg gtggtgatag aaaggttgaa gaagaaatga agaagcacgg
     1321 aagtactcat atgggattcc cagaaaacct gcctaacggt gccactgctg acaatggtga
     1381 tgatggatta attccaccaa ggaaaagcag aacacctgaa agccagcaat ttcctgacac
     1441 tgagaatgaa cagtatcaca gtgatgaaca aaatgatact cagaagcaac tttctgaaga
     1501 acagaacact ggaatattac aagatgagat tctgattcat gaagaaaagc agatagaagt
     1561 ggctgaaaat gaattctgag ctttctctta gttataagaa agaaaaagac ctcttgcatg
     1621 aaaatagtac gttgcaggaa gaaattgtca tgctaagact ggaactagac gtaatgaaac
     1681 atcagagcca gctaagagaa aagaaatatt tggaggaaat tgaaagtgtg gaaaaaaaga
     1741 atgataatct tttaaagggt ctacaactga atgagctcac catggatgat gatactgccg
     1801 tgctcgtcat tgacaacggc tctggcatgt gcaaggccgg ctttgcaggt gacgatgccc
     1861 cccgggctgt cttcccttcc atcgtggggt gccccaggca ccagaacatg atggggggca
     1921 tgcgtcagat ggagtcctat gtgggcaatg aggcccagag caagagaggc atcctgaccc
     1981 tgaagtaccc catggagcac ggcatcatca ccaactggga cgacatggag aagatctggc
     2041 accacacctt ctacaatgag ctgcgtgtgg ctcccgagga gcaccccatc ctgctgaccg
     2101 aggcacccct gaaccccaag gccaaccgtg agaagatgac ccggatcatg tttgagacct
     2161 tcaacacccc agccatgtac gtggccatcc aagccgtgct gtcc
//
LOCUS       NM_001005361            3633 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens dynamin 2 (DNM2), transcript variant 2, mRNA.
ACCESSION   NM_001005361
VERSION     NM_001005361.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3633)
  AUTHORS   Perdreau-Dahl H, Lipsett DB, Frisk M, Kermani F, Carlson CR, Brech
            A, Shen X, Bergan-Dahl A, Hou Y, Tuomainen T, Tavi P, Jones PP,
            Lunde M, Wasserstrom JA, Laporte J, Ullrich ND, Christensen G, Morth
            JP and Louch WE.
  TITLE     BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in
            Cardiomyocytes
  JOURNAL   Circ Res 132 (11), e188-e205 (2023)
   PUBMED   37139790
  REMARK    GeneRIF: BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule
            Growth in Cardiomyocytes.
REFERENCE   2  (bases 1 to 3633)
  AUTHORS   Sobh M, Aref S, Al Agdar M, El Zafrany M and El-Sokkary AMA.
  TITLE     Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute
            Lymphoblastic Leukemia
  JOURNAL   Asian Pac J Cancer Prev 24 (4), 1257-1264 (2023)
   PUBMED   37116148
  REMARK    GeneRIF: Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell
            Acute Lymphoblastic Leukemia. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3633)
  AUTHORS   Bayones L, Guerra-Fernandez MJ, Hinostroza F, Baez-Matus X,
            Vasquez-Navarrete J, Gallo LI, Parra S, Martinez AD, Gonzalez-Jamett
            A, Marengo FD and Cardenas AM.
  TITLE     Gain-of-Function Dynamin-2 Mutations Linked to Centronuclear
            Myopathy Impair Ca2+-Induced Exocytosis in Human Myoblasts
  JOURNAL   Int J Mol Sci 23 (18), 10363 (2022)
   PUBMED   36142275
  REMARK    GeneRIF: Gain-of-Function Dynamin-2 Mutations Linked to
            Centronuclear Myopathy Impair Ca(2+)-Induced Exocytosis in Human
            Myoblasts. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3633)
  AUTHORS   Guo R, Fujito R, Nagasaki A, Okumura M, Chihara T and Hamao K.
  TITLE     Dynamin-2 regulates microtubule stability via an
            endocytosis-independent mechanism
  JOURNAL   Cytoskeleton (Hoboken) 79 (9-11), 94-104 (2022)
   PUBMED   36053962
  REMARK    GeneRIF: Dynamin-2 regulates microtubule stability via an
            endocytosis-independent mechanism.
REFERENCE   5  (bases 1 to 3633)
  AUTHORS   Vila-Coro AJ, Mellado M, Martin de Ana A, Martinez-A C and
            Rodriguez-Frade JM.
  TITLE     Characterization of RANTES- and aminooxypentane-RANTES-triggered
            desensitization signals reveals differences in recruitment of the G
            protein-coupled receptor complex
  JOURNAL   J Immunol 163 (6), 3037-3044 (1999)
   PUBMED   10477567
REFERENCE   6  (bases 1 to 3633)
  AUTHORS   Kasai K, Shin HW, Shinotsuka C, Murakami K and Nakayama K.
  TITLE     Dynamin II is involved in endocytosis but not in the formation of
            transport vesicles from the trans-Golgi network
  JOURNAL   J Biochem 125 (4), 780-789 (1999)
   PUBMED   10101292
REFERENCE   7  (bases 1 to 3633)
  AUTHORS   Klocke R, Augustin A, Ronsiek M, Stief A, van der Putten H and
            Jockusch H.
  TITLE     Dynamin genes Dnm1 and Dnm2 are located on proximal mouse
            chromosomes 2 and 9, respectively
  JOURNAL   Genomics 41 (2), 290-292 (1997)
   PUBMED   9143510
REFERENCE   8  (bases 1 to 3633)
  AUTHORS   Diatloff-Zito C, Gordon AJ, Duchaud E and Merlin G.
  TITLE     Isolation of an ubiquitously expressed cDNA encoding human dynamin
            II, a member of the large GTP-binding protein family
  JOURNAL   Gene 163 (2), 301-306 (1995)
   PUBMED   7590285
REFERENCE   9  (bases 1 to 3633)
  AUTHORS   Zuchner,S. and Tao,F.
  TITLE     DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy - RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20614582
REFERENCE   10  (bases 1 to 3633)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301532
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000389253.9/ ENSP00000373905.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011475.6, AC011552.6,
            AC112707.2, BC039596.1 and AK097875.1.
            On Dec 4, 2019 this sequence version replaced NM_001005361.2.
            Summary: Dynamins represent one of the subfamilies of GTP-binding
            proteins. These proteins share considerable sequence similarity
            over the N-terminal portion of the molecule, which contains the
            GTPase domain. Dynamins are associated with microtubules. They have
            been implicated in cell processes such as endocytosis and cell
            motility, and in alterations of the membrane that accompany certain
            activities such as bone resorption by osteoclasts. Dynamins bind
            many proteins that bind actin and other cytoskeletal proteins.
            Dynamins can also self-assemble, a process that stimulates GTPase
            activity. Five alternatively spliced transcripts encoding different
            proteins have been described. Additional alternatively spliced
            transcripts may exist, but their full-length nature has not been
            determined. [provided by RefSeq, Jun 2010].
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon and includes an alternate in-frame exon, compared to variant
            1. The resulting protein (isoform 2) is the same length as isoform
            1 but differs in an internal region, compared to isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3633
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..3633
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /note="dynamin 2"
                     /db_xref="GeneID:1785"
                     /db_xref="HGNC:HGNC:2974"
                     /db_xref="MIM:602378"
     misc_feature    108..110
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /note="upstream in-frame stop codon"
     CDS             165..2777
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /EC_number="3.6.5.5"
                     /note="isoform 2 is encoded by transcript variant 2;
                     dynamin II"
                     /codon_start=1
                     /product="dynamin-2 isoform 2"
                     /protein_id="NP_001005361.1"
                     /db_xref="CCDS:CCDS45969.1"
                     /db_xref="GeneID:1785"
                     /db_xref="HGNC:HGNC:2974"
                     /db_xref="MIM:602378"
                     /translation="MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKS
                     SVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKKFTDFDEVRQEIEAE
                     TDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQF
                     ISRESSLILAVTPANMDLANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLEN
                     KLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMADRMGTPHLQKTL
                     NQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQMVQQFGVDF
                     EKRIEGSGDQVDTLELSGGARINRIFHERFPFELVKMEFDEKDLRREISYAIKNIHGVR
                     TGLFTPDMAFEAIVKKQIVKLKEPSLKCVDLVVSELATVIKKCAEKLSSYPRLREETER
                     IVTTYIREREGRTKDQILLLIDIEQSYINTNHEDFIGFANAQQRSTQLNKKRAIPNQGE
                     ILVIRRGWLTINNISLMKGGSKEYWFVLTAESLSWYKDEEEKEKKYMLPLDNLKIRDVE
                     KGFMSNKHVFAIFNTEQRNVYKDLRQIELACDSQEDVDSWKASFLRAGVYPEKDQAENE
                     DGAQENTFSMDPQLERQVETIRNLVDSYVAIINKSIRDLMPKTIMHLMINNTKAFIHHE
                     LLAYLYSSADQSSLMEESADQAQRRDDMLRMYHALKEALNIIGDISTSTVSTPVPPPVD
                     DTWLQSASSHSPTPQRRPVSSIHPPGRPPAVRGPTPGPPLIPVPVGAAASFSAPPIPSR
                     PGPQSVFANSDLFPAPPQIPSRPVRIPPGIPPGVPSRRPPAAPSRPTIIRPAEPSLLD"
     misc_feature    276..299
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /note="propagated from UniProtKB/Swiss-Prot (P50570.2);
                     Region: G1 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
     misc_feature    354..362
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /note="propagated from UniProtKB/Swiss-Prot (P50570.2);
                     Region: G2 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
     misc_feature    570..581
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /note="propagated from UniProtKB/Swiss-Prot (P50570.2);
                     Region: G3 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
     misc_feature    777..788
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /note="propagated from UniProtKB/Swiss-Prot (P50570.2);
                     Region: G4 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
     misc_feature    855..857
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P39052; propagated from
                     UniProtKB/Swiss-Prot (P50570.2); phosphorylation site"
     misc_feature    867..878
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /note="propagated from UniProtKB/Swiss-Prot (P50570.2);
                     Region: G5 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01055"
     misc_feature    1059..1061
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P39054; propagated from
                     UniProtKB/Swiss-Prot (P50570.2); acetylation site"
     misc_feature    1953..1955
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P39052; propagated from
                     UniProtKB/Swiss-Prot (P50570.2); phosphorylation site"
     misc_feature    1956..1958
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P50570.2); acetylation site"
     misc_feature    2385..2774
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /note="propagated from UniProtKB/Swiss-Prot (P50570.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2427..2429
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P50570.2); phosphorylation site"
     misc_feature    2454..2456
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000250|UniProtKB:P39052; propagated from
                     UniProtKB/Swiss-Prot (P50570.2); phosphorylation site"
     regulatory      3610..3615
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /note="hexamer: AATAAA"
     polyA_site      3633
                     /gene="DNM2"
                     /gene_synonym="CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII;
                     LCCS5"
                     /note="major polyA site"
ORIGIN
        1 gagaaccgga tgaggcggcg accgtgaggc cgagccggga gcgggcgtct tgccgaggcc
       61 cgggcgggcg gggagcaacg gctacagacg ccgcggggcc aggtcgttga gggtcggcgg
      121 cgggcgagga gcgcagggcg ctcgggccgg gggccgccgg cgccatgggc aaccgcggga
      181 tggaagagct gatcccgctg gtcaacaaac tgcaggacgc cttcagctcc atcggccaga
      241 gctgccacct ggacctgccg cagatcgctg tagtgggcgg ccagagcgcc ggcaagagct
      301 cggtgctgga gaacttcgtg ggccgggact tccttccccg cggttcagga atcgtcaccc
      361 ggcggcctct cattctgcag ctcatcttct caaaaacaga acatgccgag tttttgcact
      421 gcaagtccaa aaagtttaca gactttgatg aagtccggca ggagattgaa gcagagaccg
      481 acagggtcac ggggaccaac aaaggcatct ccccagtgcc catcaacctt cgagtctact
      541 cgccacacgt gttgaacttg accctcatcg acctcccggg tatcaccaag gtgcctgtgg
      601 gcgaccagcc tccagacatc gagtaccaga tcaaggacat gatcctgcag ttcatcagcc
      661 gggagagcag cctcattctg gctgtcacgc ccgccaacat ggacctggcc aactccgacg
      721 ccctcaagct ggccaaggaa gtcgatcccc aaggcctacg gaccatcggt gtcatcacca
      781 agcttgacct gatggacgag ggcaccgacg ccagggacgt cttggagaac aagttgctcc
      841 cgttgagaag aggctacatt ggcgtggtga accgcagcca gaaggatatt gagggcaaga
      901 aggacatccg tgcagcactg gcagctgaga ggaagttctt cctctcccac ccggcctacc
      961 ggcacatggc cgaccgcatg ggcacgccac atctgcagaa gacgctgaat cagcaactga
     1021 ccaaccacat ccgggagtcg ctgccggccc tacgtagcaa actacagagc cagctgctgt
     1081 ccctggagaa ggaggtggag gagtacaaga actttcggcc cgacgacccc acccgcaaaa
     1141 ccaaagccct gctgcagatg gtccagcagt ttggggtgga ttttgagaag aggatcgagg
     1201 gctcaggaga tcaggtggac actctggagc tctccggggg cgcccgaatc aatcgcatct
     1261 tccacgagcg gttcccattt gagctggtga agatggagtt tgacgagaag gacttacgac
     1321 gggagatcag ctatgccatt aagaacatcc atggagtcag gacggggctc ttcacccccg
     1381 acatggcctt tgaagccatt gtgaaaaaac agattgtaaa actcaaagag ccgagtttga
     1441 agtgtgttga tctcgtggtc tcagagctgg ccacggtcat aaaaaagtgt gccgagaagc
     1501 tcagttccta cccccggttg cgagaggaga cagagcgaat cgtcaccact tacatccggg
     1561 aacgggaggg gagaacgaag gaccagattc ttctgctgat cgacattgag cagtcctaca
     1621 tcaacacgaa ccatgaggac ttcatcgggt ttgccaatgc ccagcagagg agcacgcagc
     1681 tgaacaagaa gagagccatc cccaatcagg gggagatcct ggtgatccgc aggggctggc
     1741 tgaccatcaa caacatcagc ctgatgaaag gcggctccaa ggagtactgg tttgtgctga
     1801 ctgccgagtc actgtcctgg tacaaggatg aggaggagaa agagaagaag tacatgctgc
     1861 ctctggacaa cctcaagatc cgtgatgtgg agaagggctt catgtccaac aagcacgtct
     1921 tcgccatctt caacacggag cagagaaacg tctacaagga cctgcggcag atcgagctgg
     1981 cctgtgactc ccaggaagac gtggacagct ggaaggcctc gttcctccga gctggcgtct
     2041 accccgagaa ggaccaggca gaaaacgagg atggggccca ggagaacacc ttctccatgg
     2101 acccccaact ggagcggcag gtggagacca ttcgcaacct ggtggactca tacgtggcca
     2161 tcatcaacaa gtccatccgc gacctcatgc caaagaccat catgcacctc atgatcaaca
     2221 atacgaaggc cttcatccac cacgagctgc tggcctacct atactcctcg gcagaccaga
     2281 gcagcctcat ggaggagtcg gctgaccagg cacagcggcg ggacgacatg ctgcgcatgt
     2341 accatgccct caaggaggcg ctcaacatca tcggtgacat cagcaccagc actgtgtcca
     2401 cgcctgtacc cccgcctgtc gatgacacct ggctccagag cgccagcagc cacagcccca
     2461 ctccacagcg ccgaccggtg tccagcatac acccccctgg ccggccccca gcagtgaggg
     2521 gccccactcc agggcccccc ctgattcctg ttcccgtggg ggcagcagcc tccttctcgg
     2581 cgcccccaat cccatcccgg cctggacccc agagcgtgtt tgccaacagt gacctcttcc
     2641 cagccccgcc tcagatccca tctcggccag ttcggatccc cccagggatt cccccaggag
     2701 tgcccagcag aagaccccct gctgcgccca gccggcccac cattatccgc ccagccgagc
     2761 catccctgct cgactaggcc tcgagggggg cgtgctctcg ggggggcctc acgcacccgc
     2821 ggcgcaggag cttcagtggt ctggggccct ccgccgcccc tatgctggga ccaggctccc
     2881 agtgggcagc cctggcctct tccttaacgc tggccccggt ccagggccgg cccctgtgcc
     2941 tggctggaca ccgcactgcg caaaggggcc ctggagctcc aggcaggggg cgctggggtg
     3001 ttgcactttg ggggatggag tctcagggtg gcagaggggg gaccagaacc cttgacacca
     3061 tcctgaatga ggggtccagc ctggggggga ctctaccaag gtcttcttgg gctgggaaag
     3121 cccatgtagg gcaggccttc tataagtgcg ggcaccaagg gcgcctacat ccccaggcct
     3181 tgctggggtg caggggtata tcaacttccc attagcagga gctccccagc ggcaagcctg
     3241 gcccagtggg ctcggtagtg cccagctggc aggcctgagg tgtacatagt ccttcccggc
     3301 catattaacc acacagcctg agcctggccc agcctcggct gccagaggtg cctttgctag
     3361 gcccggagcc gttggcccgg gccggccttg ccctattcct ctcctcctcc tcctcctggg
     3421 tcccccaggg tggctgggct tgggctatgt gggtggtggt ggcggggggt cttgggggcc
     3481 tctcagctcc cgcccatgcc tccctgatgg gtgggcccag ggcggcctct ctctgaggag
     3541 acctcaccca ctcctcgctc agtttgacca ctgtaagtgc ctgcactctg tattctatta
     3601 ataaactaaa ataaagggaa gacgctgctg gtg
//
LOCUS       NM_001005373            3120 bp    mRNA    linear   PRI 19-MAR-2023
DEFINITION  Homo sapiens leucine rich repeat and sterile alpha motif containing
            1 (LRSAM1), transcript variant 2, mRNA.
ACCESSION   NM_001005373
VERSION     NM_001005373.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3120)
  AUTHORS   Li Q, Wang Y, Liu F, Wang H and Fan Y.
  TITLE     LRSAM1 E3 Ubiquitin Ligase Promotes Choriocarcinoma Progression and
            Metastasis via p53/p21 Signaling Impediment
  JOURNAL   Biomed Res Int 2022, 1926605 (2022)
   PUBMED   36093406
  REMARK    GeneRIF: LRSAM1 E3 Ubiquitin Ligase Promotes Choriocarcinoma
            Progression and Metastasis via p53/p21 Signaling Impediment.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3120)
  AUTHORS   Sun B, He ZQ, Wang HF, Li YR, Yang F, Cui F, Chen ZH and Huang XS.
  TITLE     [Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese
            patients with Charcot-Marie-Tooth disease]
  JOURNAL   Zhonghua Nei Ke Za Zhi 61 (8), 901-907 (2022)
   PUBMED   35922214
  REMARK    GeneRIF: [Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of
            Chinese patients with Charcot-Marie-Tooth disease].
REFERENCE   3  (bases 1 to 3120)
  AUTHORS   Moiseev D, Wazir Z, Liu D, Li J and Hu B.
  TITLE     C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P
            mouse model
  JOURNAL   Sci Rep 12 (1), 12160 (2022)
   PUBMED   35842440
  REMARK    GeneRIF: C698R mutation in Lrsam1 gene impairs nerve regeneration in
            a CMT2P mouse model. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3120)
  AUTHORS   Reilich P, Schlotter B, Montagnese F, Jordan B, Stock F,
            Schaff-Vogelsang M, Hotter B, Eger K, Diebold I, Erdmann H, Becker
            K, Schon U and Abicht A.
  TITLE     Location matters - Genotype-phenotype correlation in LRSAM1
            mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P
  JOURNAL   Neuromuscul Disord 31 (2), 123-133 (2021)
   PUBMED   33414056
  REMARK    GeneRIF: Location matters - Genotype-phenotype correlation in LRSAM1
            mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.
REFERENCE   5  (bases 1 to 3120)
  AUTHORS   Ng AC, Eisenberg JM, Heath RJ, Huett A, Robinson CM, Nau GJ and
            Xavier RJ.
  TITLE     Human leucine-rich repeat proteins: a genome-wide bioinformatic
            categorization and functional analysis in innate immunity
  JOURNAL   Proc Natl Acad Sci U S A 108 Suppl 1 (Suppl 1), 4631-4638 (2011)
   PUBMED   20616063
  REMARK    GeneRIF: LRSAM1 as a component of the antibacterial autophagic
            response.
REFERENCE   6  (bases 1 to 3120)
  AUTHORS   McDonald B and Martin-Serrano J.
  TITLE     Regulation of Tsg101 expression by the steadiness box: a role of
            Tsg101-associated ligase
  JOURNAL   Mol Biol Cell 19 (2), 754-763 (2008)
   PUBMED   18077552
  REMARK    GeneRIF: Tal polyubiquitinates lysine residues in the C-terminus of
            uncomplexed Tsg101, resulting in proteasomal degradation.
REFERENCE   7  (bases 1 to 3120)
  AUTHORS   Amit I, Yakir L, Katz M, Zwang Y, Marmor MD, Citri A, Shtiegman K,
            Alroy I, Tuvia S, Reiss Y, Roubini E, Cohen M, Wides R, Bacharach E,
            Schubert U and Yarden Y.
  TITLE     Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor
            endocytosis and retrovirus budding
  JOURNAL   Genes Dev 18 (14), 1737-1752 (2004)
   PUBMED   15256501
  REMARK    GeneRIF: Tal regulates a Tsg101-associated complex responsible for
            the sorting of cargo into cytoplasm-containing vesicles that bud at
            the multivesicular body and at the plasma membrane
REFERENCE   8  (bases 1 to 3120)
  AUTHORS   Li B, Su Y, Ryder J, Yan L, Na S and Ni B.
  TITLE     RIFLE: a novel ring zinc finger-leucine-rich repeat containing
            protein, regulates select cell adhesion molecules in PC12 cells
  JOURNAL   J Cell Biochem 90 (6), 1224-1241 (2003)
   PUBMED   14635195
  REMARK    GeneRIF: Results suggest that RIFLE represents a novel signaling
            protein that mediates components of the Wnt/wingless signaling
            pathway and cell adhesion in PC12 cells [RIFLE protein].
REFERENCE   9  (bases 1 to 3120)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301532
REFERENCE   10  (bases 1 to 3120)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301462
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853560.28971.1, AK226106.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000300417.11/ ENSP00000300417.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL445222.9.
            On Jun 1, 2020 this sequence version replaced NM_001005373.3.
            Summary: This gene encodes a ring finger protein involved in a
            variety of functions, including regulation of signaling pathways
            and cell adhesion, mediation of self-ubiquitylation, and
            involvement in cargo sorting during receptor endocytosis. Mutations
            in this gene have been associated with Charcot-Marie-Tooth disease.
            Multiple transcript variants encoding different isoforms have been
            identified for this gene. [provided by RefSeq, Jan 2012].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3120
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.3-q34.11"
     gene            1..3120
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="leucine rich repeat and sterile alpha motif
                     containing 1"
                     /db_xref="GeneID:90678"
                     /db_xref="HGNC:HGNC:25135"
                     /db_xref="MIM:610933"
     misc_feature    322..324
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="upstream in-frame stop codon"
     CDS             349..2520
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 2;
                     Tsg101-associated ligase; E3 ubiquitin-protein ligase
                     LRSAM1; RING-type E3 ubiquitin transferase LRSAM1; RING
                     finger leucine repeat rich"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase LRSAM1 isoform 1"
                     /protein_id="NP_001005373.1"
                     /db_xref="CCDS:CCDS6873.1"
                     /db_xref="GeneID:90678"
                     /db_xref="HGNC:HGNC:25135"
                     /db_xref="MIM:610933"
                     /translation="MPLFFRKRKPSEEARKRLEYQMCLAKEAGADDILDISKCELSEIP
                     FGAFATCKVLQKKVLIVHTNHLTSLLPKSCSLLSLATIKVLDLHDNQLTALPDDLGQLT
                     ALQVLNVERNQLMQLPRSIGNLTQLQTLNVKDNKLKELPDTVGELRSLRTLNISGNEIQ
                     RLPQMLAHVRTLEMLSLDASAMVYPPREVCGAGTAAILQFLCKESGLEYYPPSQYLLPI
                     LEQDGIENSRDSPDGPTDRFSREELEWQNRFSDYEKRKEQKMLEKLEFERRLELGQREH
                     TQLLQQSSSQKDEILQTVKEEQSRLEQGLSEHQRHLNAERQRLQEQLKQTEQNISSRIQ
                     KLLQDNQRQKKSSEILKSLENERIRMEQLMSITQEETESLRRRDVASAMQQMLTESCKN
                     RLIQMAYESQRQNLVQQACSSMAEMDERFQQILSWQQMDQNKAISQILQESAMQKAAFE
                     ALQVKKDLMHRQIRSQIKLIETELLQLTQLELKRKSLDTESLQEMISEQRWALSSLLQQ
                     LLKEKQQREEELREILTELEAKSETRQENYWLIQYQRLLNQKPLSLKLQEEGMERQLVA
                     LLEELSAEHYLPIFAHHRLSLDLLSQMSPGDLAKVGVSEAGLQHEILRRVQELLDAARI
                     QPELKPPMGEVVTPTAPQEPPESVRPSAPPAELEVQASECVVCLEREAQMIFLNCGHVC
                     CCQQCCQPLRTCPLCRQDIAQRLRIYHSS"
     misc_feature    436..501
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWE0.1);
                     Region: LRR 1"
     misc_feature    514..579
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWE0.1);
                     Region: LRR 2"
     misc_feature    592..657
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWE0.1);
                     Region: LRR 3"
     misc_feature    661..729
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWE0.1);
                     Region: LRR 4"
     misc_feature    730..795
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWE0.1);
                     Region: LRR 5"
     misc_feature    799..864
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWE0.1);
                     Region: LRR 6"
     misc_feature    1048..1050
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q6UWE0.1); phosphorylation site"
     misc_feature    1192..1290
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWE0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2158..2160
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q6UWE0.1); phosphorylation site"
     misc_feature    2272..2343
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWE0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2293..2304
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWE0.1);
                     Region: PTAP motif 1"
     misc_feature    2329..2340
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWE0.1);
                     Region: PTAP motif 2"
     regulatory      3100..3105
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="hexamer: AATAAA"
     polyA_site      3120
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="major polyA site"
ORIGIN
        1 gttgtgggca ggcgcctgag gctgacggct ggcaagcagg gcaccgcggt gcgctgaagc
       61 tagagattcc gaaagggggt tcgggtagtt cgctccggag aagtctgaga agggtggctc
      121 cggtgatccc agccctagct gtttcccata ttcctttatc cacctgcctt tgaaggagac
      181 cagactccgg ctccgcccgg cccgtgccgg gtggtctgcg gccccgagtc cgtgaccaag
      241 ccctccgagt gatcggcctg ccctcgggtg cacccgcggg tcccaacgtg ggggatccct
      301 ccatccgcaa agccagggtc ctaaagatcg ctctgggaaa agggaaggat gccgctcttc
      361 ttccggaagc ggaaacccag tgaggaggct cggaaacgcc tggagtacca gatgtgtttg
      421 gcaaaagaag ctggggcaga tgacattctc gacatctcta aatgtgagct ctcagagatt
      481 ccatttggag cttttgcaac atgcaaagtt ctgcagaaga aggtgctgat cgtccacacg
      541 aatcacctca cttccctgct tcccaaatcc tgcagcctcc tgagtctggc aaccatcaag
      601 gttctagatc tccacgataa tcagctgaca gcccttcctg acgatctggg gcagctgact
      661 gccctccagg tcttaaacgt ggaaaggaat caactgatgc agctcccacg ttccattggg
      721 aacctgaccc agctccagac tctcaatgtt aaagacaaca agctgaagga gcttccagac
      781 accgtggggg agcttcgaag cctgcgtacc ctcaacatca gtggaaacga gatccagaga
      841 ttgccgcaga tgctggctca cgttcgaacc ctggagatgc tgagccttga cgcctcggcc
      901 atggtctacc cgccgcggga ggtgtgtggt gccggcactg cggccatctt gcagttcctc
      961 tgcaaagagt cagggctgga atactacccc ccttctcagt acttgctgcc aattctggag
     1021 caagatggaa tcgagaactc tcgggacagc cctgatgggc ccacggacag attctcaagg
     1081 gaggagttag agtggcagaa caggttctca gactatgaga agaggaagga acagaagatg
     1141 ctggagaaac tcgagtttga acggcgcctg gaactggggc agcgggagca cacccagctc
     1201 cttcagcaga gcagcagcca gaaggatgag atccttcaga cggtcaagga ggagcagtcc
     1261 cggctggagc agggcctgag tgagcaccag cgccacctca acgcagagcg gcagcggctg
     1321 caggagcagc tgaagcagac ggaacagaac atttccagcc ggatccagaa gctgctgcag
     1381 gacaatcaga gacaaaagaa aagctccgag attttgaaat cgctggaaaa tgaaagaata
     1441 agaatggaac agttgatgtc cataacccag gaggagactg agagcctgcg gcgacgtgac
     1501 gttgcctccg ccatgcagca gatgctgact gagagctgta agaaccggct catccagatg
     1561 gcctacgaat ctcagaggca gaacttggtc cagcaggcct gttccagcat ggccgaaatg
     1621 gatgaacgat tccagcagat tctgtcgtgg cagcaaatgg atcagaacaa agccatcagc
     1681 cagatcctgc aggagagcgc gatgcagaag gctgcgttcg aggcactcca ggtgaagaaa
     1741 gacctgatgc atcggcagat caggagccag attaagttaa tagaaactga gttattgcag
     1801 ctgacacagc tggagttaaa gaggaagtcc ctggacacag agtcactcca ggagatgatc
     1861 tcggagcagc gctgggccct cagctccctg ctccagcagc tgctcaaaga gaagcagcag
     1921 cgagaggaag agctccggga aatcctgacg gagttagaag ccaaaagtga aaccaggcag
     1981 gaaaattact ggctgattca gtatcaacgg cttttgaacc agaagccctt gtccttgaag
     2041 ctgcaagaag aggggatgga gcgccagctg gtggccctcc tggaggagct gtcggctgag
     2101 cactacctgc ccatctttgc gcaccaccgc ctctcactgg acctgctgag ccaaatgagc
     2161 ccaggggacc tggccaaggt gggcgtctca gaagctggcc tgcagcacga gatcctccgg
     2221 agagtccagg aactgctgga tgcagccagg atccagccag agctgaaacc accaatgggt
     2281 gaggtcgtca cccctacggc cccccaggag cctcctgagt ctgtgaggcc atccgctccc
     2341 cctgcagagc tggaggtgca ggcctcagag tgtgtcgtgt gcctggaacg ggaggcccag
     2401 atgatcttcc tcaactgtgg ccacgtctgc tgctgccagc agtgctgcca gccactgcgc
     2461 acctgcccgc tgtgccgcca ggacatcgcc cagcgcctcc gcatctacca cagcagctga
     2521 gtgctgcccg cccacctggg cctggtccta gccctgcctc ggccactgtg agccccgggc
     2581 tcctgctcag ccttgtgcca gccagactcg tatgaggctc ccccctgccc tgggcccctt
     2641 ccccactgcc caggagcccc catcctaagc tccaagcatg tctgggccag gcagaggtgc
     2701 tcctcatcca tgacaccacc agtctgaatg gtcctggggg ctggggctgg agaggccgct
     2761 gcaccaccac ccgagcctgg gagccagcgt cccagcctaa tcacggatct gctgcctccc
     2821 agctgtcttg actgaaggcc accgcccctg caggagcttg ggtcctcatc tgggggccat
     2881 gcacaggccc gtcccaccct gcatgtggga agggagcagg agggcctggc tgggtgaggg
     2941 gaggccttcc tgggaaggcg tgtggtgcag gcctgtgctc acagtggcac cagcaaccct
     3001 gggtctccct ctctgctgct ccccagaacc ccggggccct cctgctctcc acaactgtcc
     3061 ctccttaccc catgtagctc gatccgaagc aggagtgtca ataaacctgt cttcagtgcg
//
LOCUS       NM_001005388           10336 bp    mRNA    linear   PRI 04-JAN-2023
DEFINITION  Homo sapiens neurofascin (NFASC), transcript variant 1, mRNA.
ACCESSION   NM_001005388
VERSION     NM_001005388.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10336)
  AUTHORS   Thibord F, Chan MV, Chen MH and Johnson AD.
  TITLE     A year of COVID-19 GWAS results from the GRASP portal reveals
            potential genetic risk factors
  JOURNAL   HGG Adv 3 (2), 100095 (2022)
   PUBMED   35224516
REFERENCE   2  (bases 1 to 10336)
  AUTHORS   Shelton JF, Shastri AJ, Ye C, Weldon CH, Filshtein-Sonmez T, Coker
            D, Symons A, Esparza-Gordillo J, Aslibekyan S and Auton A.
  CONSRTM   23andMe COVID-19 Team
  TITLE     Trans-ancestry analysis reveals genetic and nongenetic associations
            with COVID-19 susceptibility and severity
  JOURNAL   Nat Genet 53 (6), 801-808 (2021)
   PUBMED   33888907
REFERENCE   3  (bases 1 to 10336)
  AUTHORS   Harper JL, Wilson TE and Mitchell RM.
  TITLE     Case report of two children with auditory neuropathy spectrum
            disorder related to a neurofascin (NFASC) gene variant
  JOURNAL   Int J Pediatr Otorhinolaryngol 131, 109863 (2020)
   PUBMED   31945734
  REMARK    GeneRIF: Case report of two children with auditory neuropathy
            spectrum disorder related to a neurofascin (NFASC) gene variant.
REFERENCE   4  (bases 1 to 10336)
  AUTHORS   Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y,
            Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula
            S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke
            M, Vandrovcova J, Walsh L, Torti E, Iodice V, Najafi M, Karimiani
            EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P,
            Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS,
            Edvardson S, Nolano M, Devaux J and Houlden H.
  CONSRTM   SYNAPS Study Group
  TITLE     Biallelic mutations in neurofascin cause neurodevelopmental
            impairment and peripheral demyelination
  JOURNAL   Brain 142 (10), 2948-2964 (2019)
   PUBMED   31501903
  REMARK    GeneRIF: The results link biallelic variants in NFASC isoforms at
            glial cells to defects in the paranodal axoglial junctions and
            phenotypes that range from variable neurodevelopmental impairment to
            weakness, central hypomyelination, and peripheral chronic
            demyelinating neuropathy.
REFERENCE   5  (bases 1 to 10336)
  AUTHORS   Tuvia S, Garver TD and Bennett V.
  TITLE     The phosphorylation state of the FIGQY tyrosine of neurofascin
            determines ankyrin-binding activity and patterns of cell segregation
  JOURNAL   Proc Natl Acad Sci U S A 94 (24), 12957-12962 (1997)
   PUBMED   9371782
REFERENCE   6  (bases 1 to 10336)
  AUTHORS   Davis JQ, Lambert S and Bennett V.
  TITLE     Molecular composition of the node of Ranvier: identification of
            ankyrin-binding cell adhesion molecules neurofascin (mucin+/third
            FNIII domain-) and NrCAM at nodal axon segments
  JOURNAL   J Cell Biol 135 (5), 1355-1367 (1996)
   PUBMED   8947556
REFERENCE   7  (bases 1 to 10336)
  AUTHORS   Volkmer H, Leuschner R, Zacharias U and Rathjen FG.
  TITLE     Neurofascin induces neurites by heterophilic interactions with
            axonal NrCAM while NrCAM requires F11 on the axonal surface to
            extend neurites
  JOURNAL   J Cell Biol 135 (4), 1059-1069 (1996)
   PUBMED   8922386
REFERENCE   8  (bases 1 to 10336)
  AUTHORS   Hortsch M.
  TITLE     The L1 family of neural cell adhesion molecules: old proteins
            performing new tricks
  JOURNAL   Neuron 17 (4), 587-593 (1996)
   PUBMED   8893017
  REMARK    Review article
REFERENCE   9  (bases 1 to 10336)
  AUTHORS   Burmeister M, Ren Q, Makris GJ, Samson D and Bennett V.
  TITLE     Genes for the neuronal immunoglobulin domain cell adhesion molecules
            neurofascin and Nr-CAM map to mouse chromosomes 1 and 12 and
            homologous human chromosomes
  JOURNAL   Mamm Genome 7 (7), 558-559 (1996)
   PUBMED   8672144
REFERENCE   10  (bases 1 to 10336)
  AUTHORS   Volkmer H, Hassel B, Wolff JM, Frank R and Rathjen FG.
  TITLE     Structure of the axonal surface recognition molecule neurofascin and
            its relationship to a neural subgroup of the immunoglobulin
            superfamily
  JOURNAL   J Cell Biol 118 (1), 149-161 (1992)
   PUBMED   1377696
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.189883.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: downstream AUG is associated
            with N-terminal localization signal
            coronavirus related :: locus in the vicinity of disease-associated
            variant(s)
            MANE Ensembl match :: ENST00000339876.11/ ENSP00000344786.6
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC096675.2 and AL391822.12.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 7, 2020 this sequence version replaced NM_001005388.2.
            Summary: This gene encodes an L1 family immunoglobulin cell
            adhesion molecule with multiple IGcam and fibronectin domains. The
            protein functions in neurite outgrowth, neurite fasciculation, and
            organization of the axon initial segment (AIS) and nodes of Ranvier
            on axons during early development. Both the AIS and nodes of
            Ranvier contain high densities of voltage-gated Na+ (Nav) channels
            which are clustered by interactions with cytoskeletal and
            scaffolding proteins including this protein, gliomedin, ankyrin 3
            (ankyrin-G), and betaIV spectrin. This protein links the AIS
            extracellular matrix to the intracellular cytoskeleton. This gene
            undergoes extensive alternative splicing, and the full-length
            nature of some variants has not been determined.[provided by
            RefSeq, May 2009].
            Transcript Variant: This variant (1) encodes isoform 1. This
            isoform lacks the third fibronectin type 3 (FNIII) repeat and
            includes the mucin-like domain. Isoform 1 is also known as NF186,
            as described by Davis et al. (PMID: 8947556).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..10336
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..10336
                     /gene="NFASC"
                     /gene_synonym="NEDCPMD; NF; NRCAML"
                     /note="neurofascin"
                     /db_xref="GeneID:23114"
                     /db_xref="HGNC:HGNC:29866"
                     /db_xref="MIM:609145"
     misc_feature    25..27
                     /gene="NFASC"
                     /gene_synonym="NEDCPMD; NF; NRCAML"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MRRLAARGAAGDAGEVAAPAADSSDSAQGRSPSPWRLIDLCAIWDAGVYLPSAAWNRA
                     SSGVARKRLNEAEKLSAVQEAQLKRLEVTRPRVLGSREQGQVPR"
     CDS             331..4053
                     /gene="NFASC"
                     /gene_synonym="NEDCPMD; NF; NRCAML"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; neurofascin homolog"
                     /codon_start=1
                     /product="neurofascin isoform 1 precursor"
                     /protein_id="NP_001005388.2"
                     /db_xref="CCDS:CCDS53460.1"
                     /db_xref="GeneID:23114"
                     /db_xref="HGNC:HGNC:29866"
                     /db_xref="MIM:609145"
                     /translation="MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITK
                     QSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFR
                     SGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCN
                     PPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHT
                     IQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWY
                     KKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWL
                     DEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQ
                     ISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSP
                     IPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLE
                     VKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDS
                     LTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLE
                     LTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSP
                     YVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNA
                     TSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPE
                     PESVIGYSGEDLPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVG
                     KQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAPP
                     TLPPTTVGATGAVSSTDATAIAATTEATTVPIIPTVAPTTIATTTTVATTTTTTAAATT
                     TTESPPTTTSGTKIHESAPDEQSIWNVTVLPNSKWANITWKHNFGPGTDFVVEYIDSNH
                     TKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSRDNEGISSTVITFMTSTAYTNNQADIAT
                     QGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDE
                     DNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNE
                     SSEATSPVNAIYSLA"
     sig_peptide     331..402
                     /gene="NFASC"
                     /gene_synonym="NEDCPMD; NF; NRCAML"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     403..4050
                     /gene="NFASC"
                     /gene_synonym="NEDCPMD; NF; NRCAML"
                     /product="neurofascin isoform 1"
     regulatory      10315..10320
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NFASC"
                     /gene_synonym="NEDCPMD; NF; NRCAML"
                     /note="hexamer: AATAAA"
     polyA_site      10336
                     /gene="NFASC"
                     /gene_synonym="NEDCPMD; NF; NRCAML"
                     /note="major polyA site"
ORIGIN
        1 gcgcacgggc tggtctctgc cctaatgcgg cggctggcgg cgagaggcgc tgcaggggac
       61 gcgggggaag tggcggcgcc ggcagcggac agctcggaca gcgcccaggg ccggagcccg
      121 agcccttgga ggttgattga cttatgtgca atttgggacg ctggagttta ccttccctcc
      181 gcagcctgga acagagcctc ctctggtgtt gcaaggaaga ggctgaatga ggcagagaag
      241 ctgagtgctg tccaggaggc ccagttaaag cggctcgagg tgacaagacc ccgagtgctg
      301 gggagcaggg agcagggcca ggtgccgagg atggccaggc agccaccgcc gccctgggtc
      361 catgcagcct tcctcctctg cctcctcagt cttggcggag ccatcgaaat tcctatggat
      421 ccaagcattc agaatgagct gacgcagccg ccaaccatca ccaagcagtc agcgaaggat
      481 cacatcgtgg acccccgtga taacatcctg attgagtgtg aagcaaaagg gaaccctgcc
      541 cccagcttcc actggacacg aaacagcaga ttcttcaaca tcgccaagga cccccgggtg
      601 tccatgagga ggaggtctgg gaccctggtg attgacttcc gcagtggcgg gcggccggag
      661 gaatatgagg gggaatatca gtgcttcgcc cgcaacaaat ttggcacggc cctgtccaat
      721 aggatccgcc tgcaggtgtc taaatctcct ctgtggccca aggaaaacct agaccctgtc
      781 gtggtccaag agggcgctcc tttgacgctc cagtgcaacc ccccgcctgg acttccatcc
      841 ccggtcatct tctggatgag cagctccatg gagcccatca cccaagacaa acgtgtctct
      901 cagggccata acggagacct atacttctcc aacgtgatgc tgcaggacat gcagaccgac
      961 tacagttgta acgcccgctt ccacttcacc cacaccatcc agcagaagaa ccctttcacc
     1021 ctcaaggtcc tcaccacccg aggagttgca gaaagaacac caagcttcat gtatccccag
     1081 ggcaccgcga gcagccagat ggtgcttcgt ggcatggacc tcctgctgga atgcatcgcc
     1141 tccggggtcc caacaccaga catcgcatgg tacaagaaag gtggggacct cccatctgat
     1201 aaggccaagt ttgagaactt taataaggcc ctgcgtatca caaatgtctc tgaggaagac
     1261 tccggggagt atttctgcct ggcctccaac aagatgggca gcatccggca cacgatctcg
     1321 gtgagagtaa aggctgctcc ctactggctg gacgaaccca agaaccttat tctggctcct
     1381 ggcgaggatg ggagactggt gtgtcgagcc aatggaaacc ccaaacccac tgtccagtgg
     1441 atggtgaatg gggaaccttt gcaatcggca ccacctaacc caaaccgtga ggtggccgga
     1501 gacaccatca tcttccggga cacccagatc agcagcaggg ctgtgtacca gtgcaacacc
     1561 tccaacgagc atggctacct gctggccaac gcctttgtca gtgtgctgga tgtgccgcct
     1621 cggatgctgt cgccccggaa ccagctcatt cgagtgattc tttacaaccg gacgcggctg
     1681 gactgccctt tctttgggtc tcccatcccc acactgcgat ggtttaagaa tgggcaagga
     1741 agcaacctgg atggtggcaa ctaccatgtt tatgagaacg gcagtctgga aattaagatg
     1801 atccgcaaag aggaccaggg catctacacc tgtgtcgcca ccaacatcct gggcaaagct
     1861 gaaaaccaag tccgcctgga ggtcaaagac cccaccagga tctaccggat gcccgaggac
     1921 caggtggcca gaaggggcac cacggtgcag ctggagtgtc gggtgaagca cgacccctcc
     1981 ctgaaactca ccgtctcctg gctgaaggat gacgagccgc tctatattgg aaacaggatg
     2041 aagaaggaag acgactccct gaccatcttt ggggtggcag agcgggacca gggcagttac
     2101 acgtgtgtcg ccagcaccga gctagaccaa gacctggcca aggcctacct caccgtgcta
     2161 gctgatcagg ccactccaac taaccgtttg gctgccctgc ccaaaggacg gccagaccgg
     2221 ccccgggacc tggagctgac cgacctggcc gagaggagcg tgcggctgac ctggatcccc
     2281 ggggatgcta acaacagccc catcacagac tacgtcgtcc agtttgaaga agaccagttc
     2341 caacctgggg tctggcatga ccattccaag taccccggca gcgttaactc agccgtcctc
     2401 cggctgtccc cgtatgtcaa ctaccagttc cgtgtcattg ccatcaacga ggttgggagc
     2461 agccacccca gcctcccatc cgagcgctac cgaaccagtg gagcaccccc cgagtccaat
     2521 cctggtgacg tgaagggaga ggggaccaga aagaacaaca tggagatcac gtggacgccc
     2581 atgaatgcca cctcggcctt tggccccaac ctgcgctaca ttgtcaagtg gaggcggaga
     2641 gagactcgag aggcctggaa caacgtcaca gtgtggggct ctcgctacgt ggtggggcag
     2701 accccagtct acgtgcccta tgagatccga gtccaggctg aaaatgactt cgggaagggc
     2761 cctgagccag agtccgtcat cggttactcc ggagaagatt tacccagtgc ccctaggcgt
     2821 ttccgagtcc ggcagcccaa cctggagaca atcaacctgg aatgggatca tcctgagcat
     2881 ccaaatggga tcatgattgg atacactctc aaatatgtgg cctttaacgg gaccaaagta
     2941 ggaaagcaga tagtggaaaa cttctctccc aatcagacca agttcacggt gcaaagaacg
     3001 gaccccgtgt cacgctaccg ctttaccctc agcgccagga cgcaggtggg ctctggggaa
     3061 gccgtcacag aggagtcacc agcacccccg aatgaagcta ctccaaccgc agctcctccc
     3121 acattgcccc cgactaccgt gggtgcgacg ggcgctgtga gcagtaccga tgctactgcc
     3181 attgctgcca ccaccgaagc cacaacagtc cccatcatcc caactgtcgc acctaccacc
     3241 atcgccacca ccaccaccgt cgccacaact actacaacca ctgctgccgc caccaccacc
     3301 acggagagtc ctcccaccac cacctccggg actaagatac acgaatccgc ccctgatgag
     3361 cagtccatat ggaacgtcac ggtgctcccc aacagtaaat gggccaacat cacctggaag
     3421 cacaatttcg ggcccggaac tgactttgtg gttgagtaca tcgacagcaa ccatacgaaa
     3481 aaaactgtcc cagttaaggc ccaggctcag cctatacagc tgacagacct ctatcccggg
     3541 atgacataca cgttgcgggt ttattcccgg gacaacgagg gcatcagcag taccgtcatc
     3601 acctttatga ccagtacagc ttacaccaac aaccaagcgg acatcgccac ccagggctgg
     3661 ttcattgggc ttatgtgcgc catcgccctc ctggtgctga tcctgctcat cgtctgtttc
     3721 atcaagagga gtcgcggcgg caagtaccca gtacgagaaa agaaggatgt tccccttggc
     3781 cctgaagacc ccaaggaaga ggatggctca tttgactata gtgatgagga caacaagccc
     3841 ctgcagggca gtcagacatc tctggacggc accatcaagc agcaggagag tgacgacagc
     3901 ctggtggact atggcgaggg tggcgagggt cagttcaatg aagacggctc cttcatcggc
     3961 cagtacacgg tcaaaaagga caaggaggaa acagagggca acgaaagctc agaggccacg
     4021 tcacctgtca atgctatcta ctctctggcc taacggagcc cacccaggca cagccaccac
     4081 tttgcaagtg ggaggagggg agaaggggag acaaaaccac tgcagaccta ccacgaagcc
     4141 accaccacct tcagtaacaa gggtacgata tgggggtctg ccaagctgtg aggaccagta
     4201 gccaccaagc cacccacaag ccccctccca atgacccccc ttcagccccg ggtgccacca
     4261 gtgtgggaga gctggagccg tggctgagct cagctggagg gagcctggcc ccttgcccgg
     4321 tctcgcagcc accccgagcg ttccaccaca ctgtccgccc ttggcctcgg cacacgctca
     4381 ccttttctgt tggttacggg acttctcatt gtcttaattt cgctttgtgc atcttcccct
     4441 ccagacccaa tgtctctgtt ttcttttcct tttgaaaaag agtccctgga aaagaaagaa
     4501 taagtggatt ctcccccagg agaatccttt ttgcaaagat aggcaaaaag gattgaatcc
     4561 ataccagaac acgtagacag gctgtaatat tcaaaccacc tctgggccaa tgcatttcca
     4621 aaggatgcct ttctcgccat atgcctcccc tggcccccag cccctctgcc tcggccttgt
     4681 cagttgctga gctgggcttg gctcctttct ggaaaatgac agtatttttg gcagggagaa
     4741 ggtgcgcagg cctccttgct gctctctggt ttggttggga ggtgtgttta cctcttgctc
     4801 ctcattcctc ccctgccctt ttctctggaa tatctaagat gtgagctgca ttgactctga
     4861 agacgtttga ggaacaggag tgggcactga tagaaaggac ttcaacgcca gtgactgtgt
     4921 acctccagca gaagaaaatc aggtgtctgg tcttgggggc actgtgctca cttctagaga
     4981 gaagaaaaag gctgggtttg gacttcatgc ctcctcactg gtgaaaccca ggatgtagat
     5041 agagggccac acccaccctg tccagagtag agggcacctg tccacgtggc cagggcccat
     5101 gctgccaccc tcgaggagat ggaaccctgt gatgcaaaag ctttgctggt gtgtttgggg
     5161 cataaggcac tgctcccctt ccatctctag cagatatcat cttctcagcc aattctgtag
     5221 gacactgagg ctcttgtttg acatggtgtg tggatgggga cttgccccaa gactgagcag
     5281 gtctgccctt tcattggggt gtatacatat caggggaccc tgaggtggca ccgtactcag
     5341 tgttgtgatg cccccaccta gggaggactc aatgctcttt gtatgcctta tgcagcgctg
     5401 atctgtccct ggagttccca ggttcccagc tccccccctg caagccttga agcctccagc
     5461 aacgtctatc tccaggagag cagggcagcc tatgcaagtg ttccggcagg accagaagtg
     5521 gccactcaac acacgtcctc accagtcacc ccaaatggag acactcgcag acctgcagtt
     5581 ctcagaccga aggtgctgcc ttcatcctcc ccacctaatg catttttgaa accaaaggta
     5641 cctagcctca gagacagaga aggagagggg gagatcttga gtctaagagg aaccctttag
     5701 ctgtttctgc agctgaggtc agtttcagga gggtgaagct gatccccagg aatggatcag
     5761 ctgccatggg cacagcctcc gatttgagcc tctccggctg ccagccaggg ggcctgggcc
     5821 agaccagggc tctgtccttc cgtgacttta ttaaagcaac atttgccaca tgtttaagcc
     5881 gcaaaggtat tagcaatgct tgcatcatta ataatcattc agttgaaggt caagcccata
     5941 gacacacact ctctgctggt aagaaaccat agcccagaac tgagccaata aggttgtttg
     6001 aacctgagag tgtgtaatgg tcatttgggc caagcctcag ctagggctgc tgcctggacg
     6061 cctgaggggc agcttatcac agtgcaaggg gacagggtaa acagcagggg gtggggtgtg
     6121 agcttggagg gcccctcccc tggatttcct ccaacacctg cttggatact aggcccactg
     6181 tccctgaagg gaatgtcagg gaagtgtgcc tgtgagctga attaaaggac tggcctttcc
     6241 agaaaacgct ttggatctga gcagagtagt cagtttctca gacactcatt ccatactgca
     6301 ccgtacatgc cagcgtaccc attgcaccga aagcaggccc ttagggcagg aagggacgat
     6361 gagcaagtct gccacaccac ctggtgactg ggaagggctg cttctctcgt aagggtcttg
     6421 gggagaagta agcccgcagc ctgcctctgc acctcgttcc agtgtcctgc caggctctgt
     6481 actgtccttt gtgtatgaag aaaatgctgt tagccctctc tcaggctgct gttctgtggg
     6541 tgctgagagc tgccccccat caccacgcca tcacacccct ctgagcagaa gcaaatctga
     6601 ggctgaagaa ttaagttttc cccaagcaag gaaggcaggt ggtcagagag atcaaacgct
     6661 gaggcgtggg gattgcagga ttcaggaggc agcccctttg gggaagagga gggtgcattt
     6721 tccatggagc ccatgtcaga gtccactcca gctcagcagg aaagtggaat tgcccagtac
     6781 tgcctgccag ctgggtctcc caagcaacta ccccaagaca taccaacagt gaagccagga
     6841 cagcaccatg ccatcggcgc tccagtctgt ctggctggga ggaaagtgct gggcatctta
     6901 cagtaactct agaagttcct ttgactaggc tgcaatccca cctatatgct cagccctaag
     6961 agctgtggtt tcctgtgctc tcatttgtcc attcattcat tcattcattc attcagcaaa
     7021 taatctgaaa tccagtctga actaaggcct gagctgtgga taccatggcg cgtgagttag
     7081 atgtggtccc tgccctcatg gggctgacag tcctaaaatc aagtgctagg acacagtggc
     7141 cattgagctg ggagcattct tccctctacc gcttaagcca ctgatggctg cgagcttgaa
     7201 gagagggatt ctgagggaga gcttggtcca tctggtcacc aaggctgggc gggacagagc
     7261 agtcaagaac cacggtgtgg cttgagaaac agtcctgctt cctgagcctc tttgctctgc
     7321 ctcttggggc aagctcctta acctgtctgt atttttatgc ctctgtctcc cattcagttc
     7381 ctccttgaat acctctttct acagagaggc acgggctccc ctgaaggatt gtcgaggcca
     7441 gggttcggga agtacactgc catcggtcag gggacagctg cctcccacct tgcctgggtg
     7501 atggtgaatg ggactcatct tttcctgcct tgcttttgag gagatggttg aatttaagct
     7561 aacaggaaag ccaaaccagc accctccttt gtgctctgag aggttggaga catctggtcc
     7621 accccattgc ccctgcccct ggcaagccct gaagtcggga gaggtgacca caggtctgaa
     7681 aatcagccag tgccaacatt gcttgccctg caaggtgcaa ctgagcccac atagcgcatt
     7741 catagtttcc ctgaccacag ccttgggaag acggtggaaa cccgaggatg tgtgggtttc
     7801 ccagctaacg gacaagctcc cctgccacac ccagtgccca cgcatgctca catacataca
     7861 gcagaccaca accctgttgc caagcagtgc ttccaaggga tagcgatcca gattccaaca
     7921 ttgtcttgga gagggttagt ccacatccaa gttgcgtgag ataagatgca aagggctctg
     7981 tgtggatgag gaacgcacct tagaggagtg ggaaaggcca ccagggttgg gccctgttta
     8041 ggtaattcct gttggcagca cctagagaga gcatctgagc tgaaggagtg ggaaactttg
     8101 cccaagcaat ggcacgggca gcgggctctt tctggcgccc tgtgctggag cagggccaag
     8161 tcttagggca tcacaaacag cccatttgat ggagggagca gggacatagc acatttttgt
     8221 ctgtctttgt gaggctgctt tgctaactct ctgaggagag gaagcctctc gggctttccg
     8281 tcggctgggg ctagtgccag agaatccctt ctcagtggcc agcaggttcc tgggaggccg
     8341 gcacaaggca ccgctcccca ctcatgacac cttggtgcag agtgacctcc tgcccagtca
     8401 ccactccggc cagccccagc caaacacaca aaagcccatg gttgcggttg catctacacc
     8461 gttagttggc aaaggatcct gcttgagctc tgcgtggtgg ccaaggagta gcatggagga
     8521 gggccctgat tttaaaaagg aaaaatagag aggcctcaaa acaatgaaac aaagagcttg
     8581 atatgtcaag aggagaccaa ggccctggga ggcataggca agccgggcag agtcagacca
     8641 gtgccctccc ttgaccatct cctagcattc cttaacctag acaggggcta ccccatgtga
     8701 gtccaagcca gactttgtgg ctgtccccag cctgcacagc ccaagcccag ggaagtgtcc
     8761 tttctttccc ttccttacta ataatgggcc ttcctgagac acattcagag aaggatcaga
     8821 gagaaaggag aaccatccag gagagccaca agcgtccacc aaacagtgtc tcaggcctca
     8881 cctgaagctg ctgttcctcc tatcagcaca ctagtattaa atgggtgttc cataatgagg
     8941 agaatggaaa taggtacaag gcatctagct taggacagaa tcggatttcg gcatgtgaag
     9001 gaatcccaga gctgatctca ttgaaatgat ctatcgtaca gacaaggata tgcaaatcca
     9061 cagaagtgaa gggatttttg ctcaagatca catagctggt aaactaaggt aaggttaggg
     9121 cttgaacttg ggccttctga ctccttgtcc agtcagtgtt ctttcatctc accacagctg
     9181 cctcctttga aacagaggta ttaagatctg tccttctggt tcaccctctc atacctcttt
     9241 actgcgtctc ccacatcccc cacatgcctc ccaaaatgaa agacaaacag gattgtttct
     9301 gagaccaaga tcagtctgtc tgtgatcagc ctgtgtgtgg ttcacccagt catgcaatta
     9361 agggcagatc tgggccagtg gaataggata gctgattggt gtttgttact gtgaacccta
     9421 gaccgtaccc cgtagaatgg tgtctcttgc tttgtaacac atcgggcctt cagtgtgctg
     9481 tattcctcag aagtgagggc atctcggtcc attctgccca tggccacagg gtgcagagag
     9541 gcagcagggc ccatgcaagc tgccaccctg ggatttgctg ggctggagtt caacagatgt
     9601 aaagacttca gtgaagcaat aaacacaaaa ctctgggaga agatatccag aattttgtac
     9661 attactctgt ttctttttca aaaatgaggc agatcagatg cccctgagct gccccttttt
     9721 ttctgattcc caactgcaat gtcctcagtc agtgttgtcc ctctgcccgg ctccccagct
     9781 ctttgccaac ctcttcacac tccccttgag ctgagcatca gtcgcctgtg acgtggccac
     9841 cttctgtcct gctcccactc ccgacccatg ctggaccccg gaggacctcc tgccccgccc
     9901 ccaccacaca cccatatccc ccaccattcc aatttgttct ttcccgtggg gaattttttt
     9961 tcccagcgtc tccatccctt cctacatatc cacacacaca caaattggtc tgatcttttt
    10021 tccattggtt aaacatttaa ctccatgcca gaccttgttt taacccctct cacatcatgt
    10081 tctttccttt tttgcgagtt attttgcatt aaccaacttt gtcagtgaca gatgcgtatc
    10141 tgagggtgtc acacacgacc ttcagcaggg aagacttctg ggccatggag ggccgtctaa
    10201 tacatggact tataaactga ctgcatgagc aatgaaaagg ccaaattatt ctgaattttt
    10261 tttgaatcac tgtaaaaaaa ctgatttctt ttgtatagag aacactaaac gtataataaa
    10321 agttgttcaa aatgga
//
LOCUS       NM_001005404            5264 bp    mRNA    linear   PRI 17-APR-2023
DEFINITION  Homo sapiens yippee like 2 (YPEL2), mRNA.
ACCESSION   NM_001005404
VERSION     NM_001005404.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5264)
  AUTHORS   Xu JX, Tang ML, Lu ZF, Song Y, Zhang KL, He RC, Guo XN, Yuan YQ, Dai
            X and Ma X.
  TITLE     A novel role for YPEL2 in mediating endothelial cellular senescence
            via the p53/p21 pathway
  JOURNAL   Mech Ageing Dev 211, 111803 (2023)
   PUBMED   36963468
  REMARK    GeneRIF: A novel role for YPEL2 in mediating endothelial cellular
            senescence via the p53/p21 pathway.
REFERENCE   2  (bases 1 to 5264)
  AUTHORS   de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US,
            Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N,
            Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M,
            Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H,
            Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI,
            Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S,
            Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S and Hardcastle AJ.
  TITLE     Structural Variants Create New Topological-Associated Domains and
            Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis
            Pigmentosa
  JOURNAL   Am J Hum Genet 107 (5), 802-814 (2020)
   PUBMED   33022222
  REMARK    GeneRIF: Structural Variants Create New Topological-Associated
            Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant
            Retinitis Pigmentosa.
REFERENCE   3  (bases 1 to 5264)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 5264)
  AUTHORS   Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann
            TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby
            A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y,
            Tarasov KV, Dorr M, Muller-Nurasyid M, Lahtinen AM, Nolte IM, Smith
            AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D,
            Lyytikainen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro
            P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S, Kumari M,
            Morris RW, Naluai AT, Padmanabhan S, Kluttig A, Strohmer B,
            Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K,
            Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso
            A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane PW,
            Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J, Smith JG,
            Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella M, Zelante
            L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polasek O, Wright AF,
            Griffin M, Daly MJ, Arnar DO, Holm H, Thorsteinsdottir U, Denny JC,
            Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O'Donnell CJ,
            Yin X, Bobbo M, D'Adamo AP, Iorio A, Sinagra G, Carracedo A,
            Cummings SR, Nalls MA, Jula A, Kontula KK, Marjamaa A, Oikarinen L,
            Perola M, Porthan K, Erbel R, Hoffmann P, Jockel KH, Kalsch H,
            Nothen MM, den Hoed M, Loos RJ, Thelle DS, Gieger C, Meitinger T,
            Perz S, Peters A, Prucha H, Sinner MF, Waldenberger M, de Boer RA,
            Franke L, van der Vleuten PA, Beckmann BM, Martens E, Bardai A,
            Hofman N, Wilde AA, Behr ER, Dalageorgou C, Giudicessi JR,
            Medeiros-Domingo A, Barc J, Kyndt F, Probst V, Ghidoni A, Insolia R,
            Hamilton RM, Scherer SW, Brandimarto J, Margulies K, Moravec CE, del
            Greco M F, Fuchsberger C, O'Connell JR, Lee WK, Watt GC, Campbell H,
            Wild SH, El Mokhtari NE, Frey N, Asselbergs FW, Mateo Leach I, Navis
            G, van den Berg MP, van Veldhuisen DJ, Kellis M, Krijthe BP, Franco
            OH, Hofman A, Kors JA, Uitterlinden AG, Witteman JC, Kedenko L,
            Lamina C, Oostra BA, Abecasis GR, Lakatta EG, Mulas A, Orru M,
            Schlessinger D, Uda M, Markus MR, Volker U, Snieder H, Spector TD,
            Arnlov J, Lind L, Sundstrom J, Syvanen AC, Kivimaki M, Kahonen M,
            Mononen N, Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M,
            Nicolaides AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F,
            Whincup PH, Hingorani AD, Schott JJ, Bezzina CR, Ingelsson E,
            Ferrucci L, Gasparini P, Wilson JF, Rudan I, Franke A, Muhleisen TW,
            Pramstaller PP, Lehtimaki TJ, Paterson AD, Parsa A, Liu Y, van Duijn
            CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix SB, Sanna
            S, Ritchie MD, Stricker BH, Stefansson K, Boyer LA, Cappola TP,
            Olsen JV, Lage K, Schwartz PJ, Kaab S, Chakravarti A, Ackerman MJ,
            Pfeufer A, de Bakker PI and Newton-Cheh C.
  CONSRTM   CARe Consortium; COGENT Consortium; DCCT/EDIC; eMERGE Consortium;
            HRGEN Consortium
  TITLE     Genetic association study of QT interval highlights role for calcium
            signaling pathways in myocardial repolarization
  JOURNAL   Nat Genet 46 (8), 826-836 (2014)
   PUBMED   24952745
REFERENCE   5  (bases 1 to 5264)
  AUTHORS   Olson JE, Wang X, Pankratz VS, Fredericksen ZS, Vachon CM, Vierkant
            RA, Cerhan JR and Couch FJ.
  TITLE     Centrosome-related genes, genetic variation, and risk of breast
            cancer
  JOURNAL   Breast Cancer Res Treat 125 (1), 221-228 (2011)
   PUBMED   20508983
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 5264)
  AUTHORS   Couch FJ, Wang X, Bamlet WR, de Andrade M, Petersen GM and
            McWilliams RR.
  TITLE     Association of mitotic regulation pathway polymorphisms with
            pancreatic cancer risk and outcome
  JOURNAL   Cancer Epidemiol Biomarkers Prev 19 (1), 251-257 (2010)
   PUBMED   20056645
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   7  (bases 1 to 5264)
  AUTHORS   Dalmasso C, Carpentier W, Meyer L, Rouzioux C, Goujard C, Chaix ML,
            Lambotte O, Avettand-Fenoel V, Le Clerc S, de Senneville LD, Deveau
            C, Boufassa F, Debre P, Delfraissy JF, Broet P and Theodorou I.
  CONSRTM   ANRS Genome Wide Association 01
  TITLE     Distinct genetic loci control plasma HIV-RNA and cellular HIV-DNA
            levels in HIV-1 infection: the ANRS Genome Wide Association 01 study
  JOURNAL   PLoS One 3 (12), e3907 (2008)
   PUBMED   19107206
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 5264)
  AUTHORS   Hosono K, Sasaki T, Minoshima S and Shimizu N.
  TITLE     Identification and characterization of a novel gene family YPEL in a
            wide spectrum of eukaryotic species
  JOURNAL   Gene 340 (1), 31-43 (2004)
   PUBMED   15556292
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.235628.1,
            SRR1660805.80393.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000312655.9/ ENSP00000312272.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC091059.12, AI540782.1 and AB098736.1.
            On Nov 23, 2018 this sequence version replaced NM_001005404.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5264
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q22"
     gene            1..5264
                     /gene="YPEL2"
                     /gene_synonym="FKSG4"
                     /note="yippee like 2"
                     /db_xref="GeneID:388403"
                     /db_xref="HGNC:HGNC:18326"
                     /db_xref="MIM:609723"
     misc_feature    201..203
                     /gene="YPEL2"
                     /gene_synonym="FKSG4"
                     /note="upstream in-frame stop codon"
     CDS             366..725
                     /gene="YPEL2"
                     /gene_synonym="FKSG4"
                     /note="DiGeorge syndrome-related protein"
                     /codon_start=1
                     /product="protein yippee-like 2"
                     /protein_id="NP_001005404.1"
                     /db_xref="CCDS:CCDS32695.1"
                     /db_xref="GeneID:388403"
                     /db_xref="HGNC:HGNC:18326"
                     /db_xref="MIM:609723"
                     /translation="MVKMTRSKTFQAYLPSCHRTYSCIHCRAHLANHDELISKSFQGSQ
                     GRAYLFNSVVNVGCGPAEERVLLTGLHAVADIYCENCKTTLGWKYEHAFESSQKYKEGK
                     YIIELAHMIKDNGWD"
     regulatory      5243..5248
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YPEL2"
                     /gene_synonym="FKSG4"
                     /note="hexamer: AATAAA"
     polyA_site      5264
                     /gene="YPEL2"
                     /gene_synonym="FKSG4"
                     /note="major polyA site"
ORIGIN
        1 agcccccggc ccggacccgg agggatgcgg agtggcggcc gcggcggtgg cggagactgt
       61 ggctttaaga gcgtgccggg agcccgagcc ccagccgggc cgcgcttcgc cgctgcgcac
      121 cccagcggag ccaagcccca cgctggccgg acagggccgc ctgtcgccgg gctgctgaga
      181 actagcccta gacctctgcg tgagggttct tctgccgaag acatcaccag tgtgtggagc
      241 ctgccacacc cacccgctgc caaaccacgg cctttacctg tgtcttccgg tgtttcccgt
      301 gcgacccatc ctgtgggagt gcctcgtggg ctgccccaga gttcacccca cactcagcag
      361 caccaatggt gaagatgaca agatcgaaga ctttccaggc atatctgccc tcctgccacc
      421 ggacctacag ctgcattcac tgcagagctc acttggccaa tcatgatgaa ctaatttcca
      481 agtcattcca aggaagtcaa ggacgagcat acctctttaa ctcagtagtt aatgtgggct
      541 gtgggcctgc agaagagcga gtgttgctaa caggactgca tgcagtcgca gacatttact
      601 gtgaaaactg caaaaccact ctgggctgga aatacgaaca tgcttttgaa agcagccaga
      661 aatataaaga aggcaaatac atcattgaac tagcacacat gatcaaggac aatggctggg
      721 actgattgga cagcatctac ccaacccagt gtccacgtga acgccattca accgaacatt
      781 cttcccaagc gtgagagagt gactgacact tggttccatc catttagggg ccttgccatc
      841 cggggcatcc tcccaccctg acgccatctt tctggtgacc ggcctctaaa tcgctgtctc
      901 tctgtctctt tgctttgtat ctgtttgtga gttgatcctg gcttctctct ctgttctagt
      961 tttggctgaa aacaaaacaa caaaaggaac agatccttga ccgcatggcg gcagcccacc
     1021 ttggtaaggg ccccagggcc catgcgagag ctgcctgatg gcctcttgtc aggagagcag
     1081 tggcacgggg gcgtgaggaa gagggaaagg ggaaactcta agggtcctgg cgcggggaag
     1141 gggtggaagg gtggaggtag gaacaaaatt gcgccgctcc tggagacctg ataacttagg
     1201 cttgaaataa ttgacttgtc taaaaggaca aagagaaaaa aaaaatacct catgactgca
     1261 ttctctctga ctagaagctt ctgttcctga caccaaatgt gccaggttag caaatgagca
     1321 caagatgtgg ccctgattct agttggtggg gcaagggcct ggttctcctg ggctgagtgg
     1381 gggagtgtcc tggcagcagc gagtgacctg ggcagtggcc aggtgggtgc gatgactctg
     1441 atgcctcact cagtctctgg gcaatcatca tctttgcctc tagccaccgt agataaggtg
     1501 tgaagggact gctgtttgca atgggcttac catccaaata tcccaaaggc tttgaccagc
     1561 aaccaagtaa aatcagtaat tgaggagagc agggcacaaa ggggctgcag tttgggagct
     1621 cctgaagaaa tggctcagat attgagtcag agaaataaaa agtaggatca gttagcaatt
     1681 ctaactgccc ttccttctga cccctcataa gaggagtgtg gtgagggagg ggactgggta
     1741 ggggtcatcc caggaggagg ggtttacatt ggaaccagtt caggttcggt gcatctttcc
     1801 tcttcggttt tacagtggct tccgtgggat cgtcaatttc ttgttcttag agtttcgggt
     1861 gtttttctcc agtcttgtta ctgtagactg tagaaagcac gggccccagg ctctgagctt
     1921 agtaataacc tggctggtag attcctcatg cccctaattg tcccacttag gcctgaatgt
     1981 cttgcatgga gagaaatctc ctgtcagtgt ggtccagcag cagggaggag ttctgcccaa
     2041 attccgatat caccccttcc cccatccaag catccttcga ttagggaagt ggagagcaca
     2101 tccctgtaag gcccataaga gaaagaggag tttgttacat ttaatcaaca ctgtgaagtc
     2161 tgttctacag caattcagcc attacacagt atatgactga aactcattta actgggttaa
     2221 tttcatttct tagactgaat atattattgt taagatacgt gtgcgtgtta ggtaattctc
     2281 agcatctcct ccaagtaggc cgaccttctc ggaaaattca ccctaaaagt ctcacaaaag
     2341 aatgagttca tggggagatt ctgtaaagtg atgaactgag atgaaagcag ccaacagccc
     2401 aggagctttt cagaatagcg tctgcagcag aaccagtttc cattcagagc gcgtccttgg
     2461 tggaaatgct tttttgtgtg tctccacgcg ctgatggtgg aatgggagcc ccaagacgtg
     2521 tgggcttaga aatcaacttt tgttccccaa ggcttcttgt ccagatcttt ccagtgcttt
     2581 catagccctg ggagatcaag ttgttctccc cactttactg caaggtagac tgaagttcag
     2641 aagaaatact gaatttctgc tcccagaaga atagtttctc tggctcacag gcccaagttc
     2701 tcaatgaaat cgttttttaa ctttcacatt cctaagctgg cttcccggca cagaagccat
     2761 ggatttcccc tctctccctt ccccctcctc aaggaaatag tcttccttta tggattttca
     2821 ttggactctt tcctcagcga ttgtcctggc tgtttattga tagtccttcc cataagaaaa
     2881 tggggttaaa catggggtag gtattttgtc tttcaaacta caaatggaat gtggtgacat
     2941 aaactagaca tggggtgccc tcaagtttcc aaggggacca atgtgccact gttcttcctt
     3001 ggggatgagg cctttgactg ttggatggat cagagcaggc tccagtcaga ccctggttct
     3061 gaatgttttt tttttcggtg actatccagt gagccttcag tgggtgcaag gcgccatact
     3121 tgctgtgaga gagctgagta gagtgttggt ttttccataa ctacaggggg aaaaaaagtc
     3181 attaggcttt ccctttgtgt cagtgaaacc aaaagtgctt cttacaacgt tcgctctgtt
     3241 catgggttgt ctatctaaca ttgagcagca ttggagaggc cacagctgag ctatggagat
     3301 gctaaattaa ctcatggcct cagtcagttc attctttaat ttcctcacca aattattgac
     3361 ttagagcata accaaagacc tcattcattc accccaggtg ggttggggta attggagttt
     3421 gttggtgaag tttgggggcg gggtgttggg agtagagaca gggtaagggg acgtgagaaa
     3481 ggaaaaggca tgaagttcta tacctcagcc agcagctgcc ttcgtttgga actgaagtcc
     3541 agccagcaga ctctctagct ccatctcccc tgtgccaccc taggtcatat gaccttggcc
     3601 accttggagt agacccagac ccctcgggac ccgggacatt agtctcaggc tgctgatgga
     3661 ttgatttgac atgaaccaaa cacagccaaa ctcgataccc acaagctgtc agctgaacct
     3721 gactgagtgt tcttcctgag ttcacgagga taggctagag tgcattttta ctggtggatc
     3781 agtgtgtgcg aaagagatga ccctttataa agagattttc aagtggatat atataaaaga
     3841 aacagttgct tgtaaaatat acttttgtaa ataatattta attttttaaa taatatattt
     3901 ggtgctgttt tctcagatcc cctgagagca ctttttattt tccttttaaa ttctatggtt
     3961 tcctttgcat ttcttgaagt atattttaag ggaaacagtg atcaccaata catgttttca
     4021 gttttttttt tttttaaggt ctctatcact ttaatctgga tcaaggcttt gaagcaatgc
     4081 ctctctgcat tttttcccca gtggaacaga ctctgcagta cattaatcag gttgagaatt
     4141 gaaatatttt cttgcatcag tattggctag aaaagaaaat aaataaaacc aagttaattt
     4201 agtagtaaca acttacagtg attcttcctg ttggaagaat ttccaacaaa tcagaatcac
     4261 gtttttagtt gtgcgtgtgc gcgcacacgt gtgtaaaaag cactttcgat tgtgcctcct
     4321 gttttctcga gtggggacac tttaactaca gtttacacct cgggcgcata aagtttttct
     4381 tctctttctc tctggttgtt tctgtttctg agtggaccaa cagcagaacc cacgaggatt
     4441 tgttttgagt atggagctgt tgcgggtttg ctcctttttc ttgctttgcg tgctcagttt
     4501 ttacagactg taaaggagat gtgttgtttg tgaagatgga gcagagtcaa atctgtgctt
     4561 ctaactgaga tgagagtgta ttaatcacgt atcgcagggc tccagctgtt ttagaagcca
     4621 catcatgtta aacattaact ggtttggatt aaaagaacat taatattata atacacatat
     4681 cttagtggta aacagctttt tttttttaag gtcagattgc ctcaggttta gaaagaggct
     4741 gagaaatcaa atcttgaaca caatcaactt acatatttta aaggaatctg cctcaaatga
     4801 gaaaatatgc tagttatcta gatagaggaa agagatattt acttttttaa aaattaaaat
     4861 agttatgaaa tctggcagaa aaggtaaagc ctagaagaaa ctatgaaagc tattctcatg
     4921 ttaccaaatt ctatctgcgc atatgttttt gtataacatt tcggtgacag tgggagtcgg
     4981 ttccctttcc caacctgcag agactatctt ccaatacaga atctgtctat ttatgcttgt
     5041 gtttacaaac tgtatttgtt gggtttgggt ttttgttttc tttggtggca tttttcaggt
     5101 cactttgctt ctataacaaa ggtaattgtt ttcaaataat ttgtcttcac cttttcctgt
     5161 atttgtacat agtgattcag tattagagaa aagtgcattg tttctgtcat atttccaatc
     5221 tgtgttggtg ctcatttgag aaaataaaag ttttcaaata ttaa
//
LOCUS       NM_001005405            1021 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.
ACCESSION   NM_001005405
VERSION     NM_001005405.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1021)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1021)
  AUTHORS   Yahagi S, Shibuya K, Obayashi I, Masaki H, Kurata Y, Kudoh J and
            Shimizu N.
  TITLE     Identification of two novel clusters of ultrahigh-sulfur
            keratin-associated protein genes on human chromosome 11
  JOURNAL   Biochem Biophys Res Commun 318 (3), 655-664 (2004)
   PUBMED   15144888
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AB126080.1, BC130498.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000398530.1/ ENSP00000381541.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB126080.1 and AJ628244.1.
            On May 17, 2019 this sequence version replaced NM_001005405.2.
FEATURES             Location/Qualifiers
     source          1..1021
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..1021
                     /gene="KRTAP5-11"
                     /gene_synonym="KRTAP5-5; KRTAP5-6; KRTAP5.11"
                     /note="keratin associated protein 5-11"
                     /db_xref="GeneID:440051"
                     /db_xref="HGNC:HGNC:23606"
     CDS             39..509
                     /gene="KRTAP5-11"
                     /gene_synonym="KRTAP5-5; KRTAP5-6; KRTAP5.11"
                     /note="keratin associated protein 5-5; keratin-associated
                     protein 5.11; ultrahigh sulfur keratin-associated protein
                     5.11"
                     /codon_start=1
                     /product="keratin-associated protein 5-11"
                     /protein_id="NP_001005405.1"
                     /db_xref="CCDS:CCDS41685.1"
                     /db_xref="GeneID:440051"
                     /db_xref="HGNC:HGNC:23606"
                     /translation="MGCCGCSGGCGSGCGGCGSGSGGCGSGCGGCGSSCCVPICCCKPV
                     CCCVPACSCSSCGSCGGSKGGCGSCGSSKGGCGSCGCSQSNCCKPCCSSSGCGSFCCQS
                     SCSKPCCCQSSCCQSSCCKPCCCQSSCCQSSCFKPCCCQSSCCVPVCCQCKI"
     misc_feature    141..485
                     /gene="KRTAP5-11"
                     /gene_synonym="KRTAP5-5; KRTAP5-6; KRTAP5.11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6L8G4.1);
                     Region: 6 X 4 AA repeats of C-C-X-P"
     regulatory      994..999
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRTAP5-11"
                     /gene_synonym="KRTAP5-5; KRTAP5-6; KRTAP5.11"
                     /note="hexamer: AATAAA"
     polyA_site      1021
                     /gene="KRTAP5-11"
                     /gene_synonym="KRTAP5-5; KRTAP5-6; KRTAP5.11"
                     /note="major polyA site"
ORIGIN
        1 tgctcctcta cctgctctac tctcaatccg ccagaatcat gggctgctgt ggctgttctg
       61 gaggctgtgg ctctggctgt gggggctgtg gctccggcag tgggggctgt ggctctggct
      121 gtgggggctg tggctccagc tgctgtgtgc ccatttgctg ctgcaagcct gtgtgctgct
      181 gtgtgccagc ctgttcctgc tccagctgtg gctcctgtgg gggctccaaa gggggctgtg
      241 gctcttgtgg gagctccaag ggtgggtgtg gttcttgtgg ctgctcccag tccaactgct
      301 gtaagccctg ctgctcctcc tcaggctgtg ggtcattctg ctgccagtcc agctgctcca
      361 aaccctgctg ctgccaatcc agctgctgcc agtccagctg ctgcaagccc tgctgctgcc
      421 aatccagctg ctgccagtct agctgcttca agccctgctg ctgccagtcc agctgctgtg
      481 tccccgtgtg ctgccagtgt aagatctgag gctctggacc cagaccttca ggtttctcct
      541 ctttggtgaa agcatttctt atggtttctc tgaatcagtt catcccacac atcatcctga
      601 ggcacctgca cctgctctag ctcatcatcc atgcatgcac ctctttccat ggctcggctc
      661 tcctctaggc cctgccttca gcttcctcac tccggaaaca tgtgtttcct tgatgcagga
      721 ggtgttcttc cctggacgcc atggtgttcc ctgcacttgg gtgtggacca tcttcttctt
      781 ctccctgggc tgactgagat gctaggtctg accccacaag gccaggccga cattcctgag
      841 tgatcactaa gaaccagttt ctcaaccacc actgggattc tgggtcctcc tgggctgctg
      901 cctgttctcc tgtgacccac ctgtgagcaa gaaggtctcc ttccttcctg ttgtctccat
      961 ctatttaaaa aaaaaatgaa tgaatttcct tgcaataaag cctctcatgt ctgtaaacca
     1021 a
//
LOCUS       NM_001005415            1380 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens membrane associated ring-CH-type finger 2 (MARCHF2),
            transcript variant 2, mRNA.
ACCESSION   NM_001005415
VERSION     NM_001005415.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1380)
  AUTHORS   Chathuranga K, Kim TH, Lee H, Park JS, Kim JH, Chathuranga WAG,
            Ekanayaka P, Choi YJ, Lee CH, Kim CJ, Jung JU and Lee JS.
  TITLE     Negative regulation of NEMO signaling by the ubiquitin E3 ligase
            MARCH2
  JOURNAL   EMBO J 39 (21), e105139 (2020)
   PUBMED   32935379
REFERENCE   2  (bases 1 to 1380)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1380)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1380)
  AUTHORS   Yoo W, Cho EB, Kim S and Yoon JB.
  TITLE     The E3 ubiquitin ligase MARCH2 regulates ERGIC3-dependent
            trafficking of secretory proteins
  JOURNAL   J Biol Chem 294 (28), 10900-10912 (2019)
   PUBMED   31142615
  REMARK    GeneRIF: MARCH2 reduced secretion of alpha1-antitrypsin and
            haptoglobin, and coexpression of the ubiquitination-resistant ERGIC3
            variant largely restored their secretion, suggesting that
            MARCH2-mediated ERGIC3 ubiquitination is the major cause of the
            decrease in trafficking of ERGIC3-binding secretory proteins.
REFERENCE   5  (bases 1 to 1380)
  AUTHORS   Zhang Y, Tada T, Ozono S, Yao W, Tanaka M, Yamaoka S, Kishigami S,
            Fujita H and Tokunaga K.
  TITLE     Membrane-associated RING-CH (MARCH) 1 and 2 are MARCH family members
            that inhibit HIV-1 infection
  JOURNAL   J Biol Chem 294 (10), 3397-3405 (2019)
   PUBMED   30630952
  REMARK    GeneRIF: Membrane-associated RING-CH (MARCH) 1 and 2 are MARCH
            family members that inhibit HIV-1 infection
REFERENCE   6  (bases 1 to 1380)
  AUTHORS   Macaulay IC, Tijssen MR, Thijssen-Timmer DC, Gusnanto A, Steward M,
            Burns P, Langford CF, Ellis PD, Dudbridge F, Zwaginga JJ, Watkins
            NA, van der Schoot CE and Ouwehand WH.
  TITLE     Comparative gene expression profiling of in vitro differentiated
            megakaryocytes and erythroblasts identifies novel activatory and
            inhibitory platelet membrane proteins
  JOURNAL   Blood 109 (8), 3260-3269 (2007)
   PUBMED   17192395
REFERENCE   7  (bases 1 to 1380)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   8  (bases 1 to 1380)
  AUTHORS   Fukuda H, Nakamura N and Hirose S.
  TITLE     MARCH-III Is a novel component of endosomes with properties similar
            to those of MARCH-II
  JOURNAL   J Biochem 139 (1), 137-145 (2006)
   PUBMED   16428329
REFERENCE   9  (bases 1 to 1380)
  AUTHORS   Nakamura N, Fukuda H, Kato A and Hirose S.
  TITLE     MARCH-II is a syntaxin-6-binding protein involved in endosomal
            trafficking
  JOURNAL   Mol Biol Cell 16 (4), 1696-1710 (2005)
   PUBMED   15689499
  REMARK    GeneRIF: Depletion of MARCH-II by small interfering RNA perturbed
            the trans-Golgi network (TGN) localization of syntaxin 6 and
            TGN38/46
REFERENCE   10  (bases 1 to 1380)
  AUTHORS   Bartee E, Mansouri M, Hovey Nerenberg BT, Gouveia K and Fruh K.
  TITLE     Downregulation of major histocompatibility complex class I by human
            ubiquitin ligases related to viral immune evasion proteins
  JOURNAL   J Virol 78 (3), 1109-1120 (2004)
   PUBMED   14722266
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1388149.1,
            SRR3476690.846630.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000215555.7/ ENSP00000215555.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI546028.1, AF151074.1, CN363445.1, BC032624.1 and BC015910.1.
            On Aug 13, 2020 this sequence version replaced NM_001005415.1.
            Summary: MARCH2 is a member of the MARCH family of membrane-bound
            E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin
            (see MIM 191339) to target lysines in substrate proteins, thereby
            signaling their vesicular transport between membrane compartments.
            MARCH2 reduces surface accumulation of several glycoproteins and
            appears to regulate early endosome-to-trans-Golgi network (TGN)
            trafficking (Bartee et al., 2004 [PubMed 14722266]; Nakamura et
            al., 2005 [PubMed 15689499]).[supplied by OMIM, Mar 2010].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 4. Variants 1, 2, and 4-7 all encode the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1380
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..1380
                     /gene="MARCHF2"
                     /gene_synonym="HSPC240; MARCH-II; MARCH2; RNF172"
                     /note="membrane associated ring-CH-type finger 2"
                     /db_xref="GeneID:51257"
                     /db_xref="HGNC:HGNC:28038"
                     /db_xref="MIM:613332"
     misc_feature    28..30
                     /gene="MARCHF2"
                     /gene_synonym="HSPC240; MARCH-II; MARCH2; RNF172"
                     /note="upstream in-frame stop codon"
     CDS             169..909
                     /gene="MARCHF2"
                     /gene_synonym="HSPC240; MARCH-II; MARCH2; RNF172"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 2;
                     membrane-associated RING-CH protein II; membrane-associated
                     ring finger (C3HC4) 2, E3 ubiquitin protein ligase;
                     membrane associated ring finger 2; E3 ubiquitin-protein
                     ligase MARCH2; RING finger protein 172; membrane-associated
                     RING finger protein 2; RING-type E3 ubiquitin transferase
                     MARCHF2; E3 ubiquitin-protein ligase MARCHF2; RING-type E3
                     ubiquitin transferase MARCH2"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase MARCHF2 isoform 1"
                     /protein_id="NP_001005415.1"
                     /db_xref="CCDS:CCDS12202.1"
                     /db_xref="GeneID:51257"
                     /db_xref="HGNC:HGNC:28038"
                     /db_xref="MIM:613332"
                     /translation="MTTGDCCHLPGSLCDCSGSPAFSKVVEATGLGPPQYVAQVTSRDG
                     RLLSTVIRALDTPSDGPFCRICHEGANGECLLSPCGCTGTLGAVHKSCLEKWLSSSNTS
                     YCELCHTEFAVEKRPRPLTEWLKDPGPRTEKRTLCCDMVCFLFITPLAAISGWLCLRGA
                     QDHLRLHSQLEAVGLIALTIALFTIYVLWTLVSFRYHCQLYSEWRKTNQKVRLKIREAD
                     SPEGPQHSPLAAGLLKKVAEETPV"
     misc_feature    334..516
                     /gene="MARCHF2"
                     /gene_synonym="HSPC240; MARCH-II; MARCH2; RNF172"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0N8.1);
                     Region: Required for inhibition of HIV-1 virus production
                     and VSV G protein expression.
                     /evidence=ECO:0000269|PubMed:29573664"
     misc_feature    529..906
                     /gene="MARCHF2"
                     /gene_synonym="HSPC240; MARCH-II; MARCH2; RNF172"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0N8.1);
                     Region: Required for interaction with IKBKG.
                     /evidence=ECO:0000269|PubMed:32935379"
     misc_feature    580..642
                     /gene="MARCHF2"
                     /gene_synonym="HSPC240; MARCH-II; MARCH2; RNF172"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0N8.1);
                     transmembrane region"
     misc_feature    691..753
                     /gene="MARCHF2"
                     /gene_synonym="HSPC240; MARCH-II; MARCH2; RNF172"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P0N8.1);
                     transmembrane region"
     regulatory      1354..1359
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MARCHF2"
                     /gene_synonym="HSPC240; MARCH-II; MARCH2; RNF172"
                     /note="hexamer: AATAAA"
     polyA_site      1380
                     /gene="MARCHF2"
                     /gene_synonym="HSPC240; MARCH-II; MARCH2; RNF172"
                     /note="major polyA site"
ORIGIN
        1 ggacgcaggt gccggccgga gcggagctag tggcgccgac gggccgggcc gggccgggac
       61 cggggccgag gcgaaccgag gggcctgtgc ggccgcccgg cccggccgcg gatcaggctc
      121 ctggaaccat gggcctcagg ccctgaggat acggggctcc cggtggccat gacgacgggt
      181 gactgctgcc acctccccgg ctccctgtgt gactgctccg gcagccctgc cttctccaag
      241 gtcgtggagg ctacgggcct cggaccgccc cagtatgtgg cacaggtgac ttcaagggat
      301 ggccggctcc tctccaccgt catccgtgcc ttggacacac cgagtgatgg tcctttctgc
      361 cggatctgcc atgagggagc gaacggggag tgcttgctgt ccccgtgtgg ctgcaccggc
      421 acgctgggtg ccgtgcataa gagctgtctg gagaagtggc tttcctcatc taacaccagc
      481 tactgcgagc tgtgccacac ggagtttgca gtggagaaac ggcctcgacc cctcacagag
      541 tggctgaagg acccggggcc gcggacggag aagcggacac tgtgctgcga catggtgtgt
      601 ttcctgttca tcacaccgct ggccgccatc tcaggctggt tgtgcctgcg cggggcccag
      661 gaccacctcc ggctccacag ccagctggag gccgtgggtc tcattgccct caccatcgcc
      721 ctcttcacca tctatgtcct ctggacgctg gtctccttcc gctaccactg ccagctgtac
      781 tccgagtgga gaaagaccaa ccagaaagtt cgcctgaaga tccgggaggc ggacagcccc
      841 gagggccccc agcattctcc actggcagct ggactcctga agaaggtggc agaggagaca
      901 ccagtatgaa tgctgggctc tccggaccct gcagcagaga ggccagaggt agctggtgat
      961 accctgtcct gtggaaggac ttccacttca acacttccac ttcaacagtt cccgcacggc
     1021 ctgaacgctt cttaggccaa gagacaccat gcagagccta gtctgtgatc ctgtgtgaag
     1081 atattttcag ggtttttttt tttttttttt tgcatatgga ggacaggtgg acatggtcct
     1141 gagctctgga cggagcaggc accctgatct cattctgagg tccacatggc accttctggg
     1201 ccagcagctg tggccggtgt atcaagggcg cccttaaagc tggaacattc cagcaagctt
     1261 cttgcgcttc tctgcacccg gcaggcccac tttcctggca ccctcgactt tatataaaag
     1321 ttgcactgcg tttcaaaaac ccacccctga atgaataaaa ggagccctgg ctggacaaaa
//
LOCUS       NM_001005464             518 bp    mRNA    linear   PRI 19-MAR-2023
DEFINITION  Homo sapiens H3 clustered histone 15 (H3C15), mRNA.
ACCESSION   NM_001005464
VERSION     NM_001005464.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 518)
  AUTHORS   Hammond CM, Bao H, Hendriks IA, Carraro M, Garcia-Nieto A, Liu Y,
            Reveron-Gomez N, Spanos C, Chen L, Rappsilber J, Nielsen ML, Patel
            DJ, Huang H and Groth A.
  TITLE     DNAJC9 integrates heat shock molecular chaperones into the histone
            chaperone network
  JOURNAL   Mol Cell 81 (12), 2533-2548 (2021)
   PUBMED   33857403
REFERENCE   2  (bases 1 to 518)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 518)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 518)
  AUTHORS   Kujirai T and Kurumizaka H.
  TITLE     Transcription through the nucleosome
  JOURNAL   Curr Opin Struct Biol 61, 42-49 (2020)
   PUBMED   31790919
  REMARK    Review article
REFERENCE   5  (bases 1 to 518)
  AUTHORS   Braastad CD, Hovhannisyan H, van Wijnen AJ, Stein JL and Stein GS.
  TITLE     Functional characterization of a human histone gene cluster
            duplication
  JOURNAL   Gene 342 (1), 35-40 (2004)
   PUBMED   15527963
REFERENCE   6  (bases 1 to 518)
  AUTHORS   Marzluff WF, Gongidi P, Woods KR, Jin J and Maltais LJ.
  TITLE     The human and mouse replication-dependent histone genes
  JOURNAL   Genomics 80 (5), 487-498 (2002)
   PUBMED   12408966
REFERENCE   7  (bases 1 to 518)
  AUTHORS   Goto H, Tomono Y, Ajiro K, Kosako H, Fujita M, Sakurai M, Okawa K,
            Iwamatsu A, Okigaki T, Takahashi T and Inagaki M.
  TITLE     Identification of a novel phosphorylation site on histone H3 coupled
            with mitotic chromosome condensation
  JOURNAL   J Biol Chem 274 (36), 25543-25549 (1999)
   PUBMED   10464286
REFERENCE   8  (bases 1 to 518)
  AUTHORS   Marashi,F., Helms,S., Shiels,A., Silverstein,S., Greenspan,D.S.,
            Stein,G. and Stein,J.
  TITLE     Enhancer-facilitated expression of prokaryotic and eukaryotic genes
            using human histone gene 5' regulatory sequences
  JOURNAL   Biochem Cell Biol 64 (4), 277-289 (1986)
   PUBMED   3013246
REFERENCE   9  (bases 1 to 518)
  AUTHORS   Green,L., Van Antwerpen,R., Stein,J., Stein,G., Tripputi,P.,
            Emanuel,B., Selden,J. and Croce,C.
  TITLE     A major human histone gene cluster on the long arm of chromosome 1
  JOURNAL   Science 226 (4676), 838-840 (1984)
   PUBMED   6494913
REFERENCE   10  (bases 1 to 518)
  AUTHORS   Ohe,Y. and Iwai,K.
  TITLE     Human spleen histone H3. Isolation and amino acid sequence
  JOURNAL   J Biochem 90 (4), 1205-1211 (1981)
   PUBMED   7309716
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: HY085386.1, BE889837.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000403683.2/ ENSP00000385479.1
            RefSeq Select criteria :: based on single protein-coding transcript
            replication-dependent histone :: PMID: 12408966
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC239868.2.
            On Dec 3, 2019 this sequence version replaced NM_001005464.2.
            Summary: Histones are basic nuclear proteins that are responsible
            for the nucleosome structure of the chromosomal fiber in
            eukaryotes. This structure consists of approximately 146 bp of DNA
            wrapped around a nucleosome, an octamer composed of pairs of each
            of the four core histones (H2A, H2B, H3, and H4). The chromatin
            fiber is further compacted through the interaction of a linker
            histone, H1, with the DNA between the nucleosomes to form higher
            order chromatin structures. This gene is intronless and encodes a
            replication-dependent histone that is a member of the histone H3
            family. Transcripts from this gene lack polyA tails; instead, they
            contain a palindromic termination element. This gene is found in a
            histone cluster on chromosome 1. This gene is one of four histone
            genes in the cluster that are duplicated; this record represents
            the centromeric copy. [provided by RefSeq, Aug 2015].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..518
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     gene            1..518
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="H3 clustered histone 15"
                     /db_xref="GeneID:333932"
                     /db_xref="HGNC:HGNC:20505"
     CDS             48..458
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="histone 2, H3a; histone H3/o; histone cluster 2,
                     H3a; histone cluster 2 H3 family member a; H3-clustered
                     histone 13; H3-clustered histone 14"
                     /codon_start=1
                     /product="histone H3.2"
                     /protein_id="NP_001005464.1"
                     /db_xref="CCDS:CCDS30850.1"
                     /db_xref="GeneID:333932"
                     /db_xref="HGNC:HGNC:20505"
                     /translation="MARTKQTARKSTGGKAPRKQLATKAARKSAPATGGVKKPHRYRPG
                     TVALREIRRYQKSTELLIRKLPFQRLVREIAQDFKTDLRFQSSAVMALQEASEAYLVGL
                     FEDTNLCAIHAKRVTIMPKDIQLARRIRGERA"
     misc_feature    48..176
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q71DI3.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    54..56
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="Asymmetric dimethylarginine, by PRMT6, alternate.
                     /evidence=ECO:0000269|PubMed:17898714,
                     ECO:0000269|PubMed:18077460, ECO:0000269|PubMed:18079182;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3);
                     methylation site"
     misc_feature    57..59
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="Phosphothreonine, by HASPIN.
                     /evidence=ECO:0000269|PubMed:15681610,
                     ECO:0000269|PubMed:16185088; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); phosphorylation site"
     misc_feature    60..62
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; N6,N6-dimethyllysine,
                     alternate. /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); methylation site"
     misc_feature    60..62
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); acetylation site"
     misc_feature    66..68
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="Phosphothreonine, by PKC.
                     /evidence=ECO:0000269|PubMed:20228790; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); phosphorylation site"
     misc_feature    72..74
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="Symmetric dimethylarginine, by PRMT5, alternate.
                     /evidence=ECO:0000250|UniProtKB:P84228; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); methylation site"
     misc_feature    75..77
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:11242053,
                     ECO:0000269|PubMed:16185088, ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; N6,N6-dimethyllysine,
                     alternate. /evidence=ECO:0000269|PubMed:11242053,
                     ECO:0000269|PubMed:16185088, ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:11242053,
                     ECO:0000269|PubMed:16185088, ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); methylation site"
     misc_feature    75..77
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16185088,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16497732,
                     ECO:0000269|PubMed:16627869, ECO:0000269|PubMed:17194708;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3);
                     acetylation site"
     misc_feature    78..80
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="Phosphoserine, alternate, by AURKB, AURKC, RPS6KA3,
                     RPS6KA4 and RPS6KA5. /evidence=ECO:0000269|PubMed:10464286,
                     ECO:0000269|PubMed:11856369, ECO:0000269|PubMed:12560483,
                     ECO:0000269|PubMed:15681610, ECO:0000269|PubMed:16185088;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3);
                     phosphorylation site"
     misc_feature    81..83
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="Phosphothreonine, by PKC.
                     /evidence=ECO:0000269|PubMed:12560483,
                     ECO:0000269|PubMed:18066052, ECO:0000269|PubMed:22901803;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3);
                     phosphorylation site"
     misc_feature    90..92
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16185088,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16497732,
                     ECO:0000269|PubMed:16627869, ECO:0000269|PubMed:17194708;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3);
                     acetylation site"
     misc_feature    99..101
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="Asymmetric dimethylarginine, by CARM1, alternate.
                     /evidence=ECO:0000269|PubMed:15345777,
                     ECO:0000269|PubMed:15471871, ECO:0000269|PubMed:16497732;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3);
                     methylation site"
     misc_feature    102..104
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:16627869, ECO:0000269|PubMed:17194708,
                     ECO:0000269|PubMed:35939806; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); acetylation site"
     misc_feature    102..104
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); methylation site"
     misc_feature    117..119
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:16627869, ECO:0000269|PubMed:17194708;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3);
                     acetylation site"
     misc_feature    117..119
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); methylation site"
     misc_feature    129..131
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16185088,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16627869,
                     ECO:0000269|PubMed:17194708; N6,N6-dimethyllysine,
                     alternate. /evidence=ECO:0000269|PubMed:16185088,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16627869,
                     ECO:0000269|PubMed:17194708; N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16185088,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16627869,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); methylation site"
     misc_feature    129..131
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:16627869, ECO:0000269|PubMed:17194708;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3);
                     acetylation site"
     misc_feature    132..134
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="Phosphoserine, alternate, by AURKB, AURKC and
                     RPS6KA5. /evidence=ECO:0000269|PubMed:10464286,
                     ECO:0000269|PubMed:11856369, ECO:0000269|PubMed:15681610,
                     ECO:0000269|PubMed:15684425, ECO:0000269|PubMed:16185088;
                     propagated from UniProtKB/Swiss-Prot (Q71DI3.3);
                     phosphorylation site"
     misc_feature    156..158
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16185088,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16627869,
                     ECO:0000269|PubMed:17194708; N6,N6-dimethyllysine,
                     alternate. /evidence=ECO:0000269|PubMed:16185088,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16627869,
                     ECO:0000269|PubMed:17194708; N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16185088,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16627869,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); methylation site"
     misc_feature    156..158
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17189264,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); acetylation site"
     misc_feature    159..161
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); methylation site"
     misc_feature    171..173
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:19783980; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); phosphorylation site"
     misc_feature    216..218
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17194708,
                     ECO:0000269|PubMed:22387026; N6-methyllysine, by EHMT2,
                     alternate. /evidence=ECO:0000269|PubMed:17194708,
                     ECO:0000269|PubMed:22387026; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); methylation site"
     misc_feature    216..218
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); acetylation site"
     misc_feature    219..221
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:20850016; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); phosphorylation site"
     misc_feature    240..242
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); methylation site"
     misc_feature    285..287
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P84228;
                     N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:15525939,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16627869,
                     ECO:0000269|PubMed:17194708; N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:15525939,
                     ECO:0000269|PubMed:16267050, ECO:0000269|PubMed:16627869,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); methylation site"
     misc_feature    285..287
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); acetylation site"
     misc_feature    288..290
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:20850016; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); phosphorylation site"
     misc_feature    306..308
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P84243; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); phosphorylation site"
     misc_feature    369..371
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); phosphorylation site"
     misc_feature    393..395
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:19520870; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); acetylation site"
     misc_feature    414..416
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:19520870,
                     ECO:0000269|PubMed:23415232; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); acetylation site"
     misc_feature    414..416
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16267050,
                     ECO:0000269|PubMed:17194708; propagated from
                     UniProtKB/Swiss-Prot (Q71DI3.3); methylation site"
     stem_loop       498..513
                     /gene="H3C15"
                     /gene_synonym="H3/n; H3/o; H3C13; H3C14; HIST2H3A"
                     /note="palindromic termination element"
                     /function="transcription termination"
ORIGIN
        1 gtttttctcc ccgccgctgc gctggtaagc ctgtgttttg gttcgctatg gcccgtacta
       61 agcagactgc tcgcaagtcg accggcggca aggccccgag gaagcagctg gccaccaagg
      121 cggcccgcaa gagcgcgccg gccacgggcg gggtgaagaa gccgcaccgc taccggcccg
      181 gcaccgtagc cctgcgggag atccggcgct accagaagtc cacggagctg ctgatccgca
      241 agctgccctt ccagcggctg gtacgcgaga tcgcgcagga ctttaagacg gacctgcgct
      301 tccagagctc ggccgtgatg gcgctgcagg aggccagcga ggcctacctg gtggggctgt
      361 tcgaagacac gaacctgtgc gccatccacg ccaagcgcgt gaccattatg cccaaggaca
      421 tccagctggc ccgccgcatc cgtggagagc gggcttaaga agtggcggtt cggccggagg
      481 ttccatcgta tccaaaaggc tcttttcaga gccaccca
//
LOCUS       NM_001005465            2533 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily G member 3
            (OR10G3), mRNA.
ACCESSION   NM_001005465
VERSION     NM_001005465.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2533)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 2533)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
REFERENCE   3  (bases 1 to 2533)
  AUTHORS   Boysen C, Simon MI and Hood L.
  TITLE     Analysis of the 1.1-Mb human alpha/delta T-cell receptor locus with
            bacterial artificial chromosome clones
  JOURNAL   Genome Res 7 (4), 330-338 (1997)
   PUBMED   9110172
REFERENCE   4  (bases 1 to 2533)
  AUTHORS   Koop BF, Rowen L, Wang K, Kuo CL, Seto D, Lenstra JA, Howard S, Shan
            W, Deshpande P and Hood L.
  TITLE     The human T-cell receptor TCRAC/TCRDC (C alpha/C delta) region:
            organization, sequence, and evolution of 97.6 kb of DNA
  JOURNAL   Genomics 19 (3), 478-493 (1994)
   PUBMED   8188290
COMMENT     ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000641040.1/ ENSP00000493245.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC243972.3 and AE000521.1.
            On Aug 3, 2020 this sequence version replaced NM_001005465.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2533
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..2533
                     /gene="OR10G3"
                     /gene_synonym="OR14-40"
                     /note="olfactory receptor family 10 subfamily G member 3"
                     /db_xref="GeneID:26533"
                     /db_xref="HGNC:HGNC:8171"
     misc_feature    270..272
                     /gene="OR10G3"
                     /gene_synonym="OR14-40"
                     /note="upstream in-frame stop codon"
     misc_feature    276..278
                     /gene="OR10G3"
                     /gene_synonym="OR14-40"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MLTPSGKILWD"
     CDS             309..1250
                     /gene="OR10G3"
                     /gene_synonym="OR14-40"
                     /note="olfactory receptor OR14-40"
                     /codon_start=1
                     /product="olfactory receptor 10G3"
                     /protein_id="NP_001005465.1"
                     /db_xref="CCDS:CCDS32046.1"
                     /db_xref="GeneID:26533"
                     /db_xref="HGNC:HGNC:8171"
                     /translation="MERINSTLLTAFILTGIPYPLRLRTLFFVFFFLIYILTQLGNLLI
                     LITVWADPRLHARPMYIFLGVLSVIDMSISSIIVPRLMMNFTLGVKPIPFGGCVAQLYF
                     YHFLGSTQCFLYTLMAYDRYLAICQPLRYPVLMTAKLSALLVAGAWMAGSIHGALQAIL
                     TFRLPYCGPNQVDYFFCDIPAVLRLACADTTVNELVTFVDIGVVVASCFSLILLSYIQI
                     IQAILRIHTADGRRRAFSTCGAHVTVVTVYYVPCAFIYLRPETNSPLDGAAALVPTAIT
                     PFLNPLIYTLRNQEVKLALKRMLRSPRTPSEV"
     misc_feature    321..323
                     /gene="OR10G3"
                     /gene_synonym="OR14-40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGC4.1); glycosylation site"
     misc_feature    384..446
                     /gene="OR10G3"
                     /gene_synonym="OR14-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC4.1);
                     transmembrane region"
     misc_feature    471..536
                     /gene="OR10G3"
                     /gene_synonym="OR14-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC4.1);
                     transmembrane region"
     misc_feature    561..563
                     /gene="OR10G3"
                     /gene_synonym="OR14-40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGC4.1); glycosylation site"
     misc_feature    609..671
                     /gene="OR10G3"
                     /gene_synonym="OR14-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC4.1);
                     transmembrane region"
     misc_feature    729..791
                     /gene="OR10G3"
                     /gene_synonym="OR14-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC4.1);
                     transmembrane region"
     misc_feature    903..962
                     /gene="OR10G3"
                     /gene_synonym="OR14-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC4.1);
                     transmembrane region"
     misc_feature    1023..1085
                     /gene="OR10G3"
                     /gene_synonym="OR14-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC4.1);
                     transmembrane region"
     misc_feature    1119..1181
                     /gene="OR10G3"
                     /gene_synonym="OR14-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC4.1);
                     transmembrane region"
ORIGIN
        1 gagagaccaa ccttaacagt tatcttcagt aagagccaca gctcctcccc cagttcataa
       61 ggaagctgga agcagatatc tctacaaata agcaggcaaa taataaatta agtttccata
      121 gtttgactct ttactttgat ccagccaaaa gtaattagtt gggtcttctg ccacgagctc
      181 ttcacaataa ttgctgctga cctatgagat attcaagatt ccttaggaat agatttgtat
      241 cctttctctc cgtctgcaag aagagttttt gatggatgct gacaccttca ggtaagattc
      301 tctgggatat ggaaagaatc aacagcacac tgttgactgc gtttatcctg acaggaattc
      361 cgtatccact caggctaagg acactctttt ttgtgttctt ttttctaatc tacatcctga
      421 ctcagctggg aaacctgctt attttaatca ctgtctgggc agacccaagg ctccatgccc
      481 gccccatgta catctttctt ggtgttctct cagtcattga tatgagcatc tcctccatca
      541 ttgtccctcg cctcatgatg aacttcactt taggtgtcaa acccatccca tttggtggct
      601 gtgttgctca actctatttc tatcacttcc tgggcagcac ccagtgcttc ctctacaccc
      661 taatggccta tgacaggtac ctggcaatat gtcagcccct gcgctaccct gtgctcatga
      721 ctgctaagct gagcgccttg cttgtggctg gagcctggat ggcaggatcc atccatgggg
      781 ctctccaggc catcctaacc ttccgcctgc cctactgtgg gcccaatcag gtggattact
      841 tcttctgtga catccctgca gtgttgagac tggcctgtgc tgacacaaca gtcaacgagc
      901 tggtgacgtt tgtagacatt ggggtggtgg ttgccagttg cttctccctg atcctcctct
      961 cctacataca gatcattcag gccatcctga gaatccacac agctgatggg cggcgccggg
     1021 ctttttcaac ttgtggagcc catgtaaccg tggtcaccgt gtactatgtg ccctgtgcct
     1081 tcatctacct gaggcctgaa accaacagcc ccctggatgg ggcagctgcc ctagtcccca
     1141 cggccatcac tcctttcctc aaccccctta tctacactct gcggaaccaa gaggtgaagc
     1201 tggccctgaa aagaatgctc agaagcccaa gaactccgag tgaggtttga aagtgtcttt
     1261 ctcccactag ggaagctgcc acaattagaa tttattataa tgtttaggct tcggtaactt
     1321 ttttcttttc ttcttgtttt ttctctttta tatagccata ctgtatgatc aaacacagtt
     1381 taaggtaaaa tactaacttt ctaacagttc cttagtatcc tctcaagata actctcagcc
     1441 actgcaagag tagagaatga gaccaaattc tcacaaacta aaccacatta aacaatccag
     1501 aagaaagaat gcaatagtgt attttccaat gtctcagtaa taaattctcc cacaccaaaa
     1561 cgtagagttc aatatgatat ttcccaatat tatatttgat atttaatatt gagtgtcaat
     1621 attgagtgtc aacttgattg gattgaagga tacaaagtat tgatcctggg tgtgcctgtg
     1681 agggtgttgc caaaagagat taacatttga aggctgggaa aggcagatcc acccttaatc
     1741 tgggcaggcg caacctaatc agctgccggc gaggctagaa tataagcagg cagaaaaatg
     1801 tgaaaagaaa gactggccta gcctcccagc ctacatgttt ctcctgtgct ggaaccatcc
     1861 taccctcaaa cataaaactc caagttcttc agttttggaa cttggactgg ctctccttgc
     1921 tcctcagcct gcagatggcc tattgtggga ccttgtgacc atgtgagtga atacttaata
     1981 aactcccctt tatatatata taaatatata tatatttttt tcccattagt tctgtccgtc
     2041 tagaaaaccc taacgctggg cgcggtggct cacgcttgta atcccagcac tttgggatgc
     2101 tgaggcaagc ggatcacgag gtcaggagat cgagaccacg gtgaaacccc gtctctacta
     2161 aaaatacaaa aaaattagcc gggtgtggtg gcgggcgcct gtagtcccag ctactcagag
     2221 aggctgaggc aggagaatgg cgtgaacctg ggaggcggag gttgcagtga gccgagatcg
     2281 caccactgca ctccagcctg ggcgacagag tgagactccg tctcaaaaaa ataaaaaaat
     2341 aaaaaaaaaa aaaacaaaga gacccctgac taacacaggg gtgaaagata aaagactaca
     2401 tattgggtac agtgtacact gcttgggtta tgggtgcacc aaaatctcag aaatcaccac
     2461 taaagaactt atccatgtaa ccaaaaacca cctgtactcc aaaaactatt gaaataaaat
     2521 tttcttaaaa agc
//
LOCUS       NM_001005466            1105 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily G member 2
            (OR10G2), mRNA.
ACCESSION   NM_001005466
VERSION     NM_001005466.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1105)
  AUTHORS   Lin CW, Chang YL, Chang YC, Lin JC, Chen CC, Pan SH, Wu CT, Chen HY,
            Yang SC, Hong TM and Yang PC.
  TITLE     MicroRNA-135b promotes lung cancer metastasis by regulating multiple
            targets in the Hippo pathway and LZTS1
  JOURNAL   Nat Commun 4, 1877 (2013)
   PUBMED   23695671
  REMARK    GeneRIF: Expression of miR-135b, LZTS1, LATS2 and nuclear TAZ
            predicts poor outcomes of non-small-cell lung cancer.
REFERENCE   2  (bases 1 to 1105)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 1105)
  AUTHORS   Koop BF, Rowen L, Wang K, Kuo CL, Seto D, Lenstra JA, Howard S, Shan
            W, Deshpande P and Hood L.
  TITLE     The human T-cell receptor TCRAC/TCRDC (C alpha/C delta) region:
            organization, sequence, and evolution of 97.6 kb of DNA
  JOURNAL   Genomics 19 (3), 478-493 (1994)
   PUBMED   8188290
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC137371.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000542433.1/ ENSP00000445383.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC243972.3.
            On Apr 16, 2014 this sequence version replaced NM_001005466.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1105
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1105
                     /gene="OR10G2"
                     /gene_synonym="OR14-41"
                     /note="olfactory receptor family 10 subfamily G member 2"
                     /db_xref="GeneID:26534"
                     /db_xref="HGNC:HGNC:8170"
     CDS             99..1031
                     /gene="OR10G2"
                     /gene_synonym="OR14-41"
                     /note="olfactory receptor OR14-41 pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 10G2"
                     /protein_id="NP_001005466.2"
                     /db_xref="CCDS:CCDS32047.1"
                     /db_xref="GeneID:26534"
                     /db_xref="HGNC:HGNC:8170"
                     /translation="MGKTKNTSLDAVVTDFILLGLSHPPNLRSLLFLVFFIIYILTQLG
                     NLLILLTMWADPKLCARPMYILLGVLSFLDMWLSSVTVPLLILDFTPSIKAIPFGGCVA
                     QLYFFHFLGSTQCFLYTLMAYDRYLAICQPLRYPVLMNGRLCTVLVAGAWVAGSMHGSI
                     QATLTFRLPYCGPNQVDYFICDIPAVLRLACADTTVNELVTFVDVGVVAASCFMLILLS
                     YANIVNAILKIRTTDGRRRAFSTCGSHLIVVTVYYVPCIFIYLRAGSKDPLDGAAAVFY
                     TVVTPLLNPLIYTLRNQEVKSALKRITAG"
     misc_feature    114..116
                     /gene="OR10G2"
                     /gene_synonym="OR14-41"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGC3.2); glycosylation site"
     misc_feature    186..248
                     /gene="OR10G2"
                     /gene_synonym="OR14-41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC3.2);
                     transmembrane region"
     misc_feature    273..338
                     /gene="OR10G2"
                     /gene_synonym="OR14-41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC3.2);
                     transmembrane region"
     misc_feature    411..473
                     /gene="OR10G2"
                     /gene_synonym="OR14-41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC3.2);
                     transmembrane region"
     misc_feature    531..593
                     /gene="OR10G2"
                     /gene_synonym="OR14-41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC3.2);
                     transmembrane region"
     misc_feature    705..764
                     /gene="OR10G2"
                     /gene_synonym="OR14-41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC3.2);
                     transmembrane region"
     misc_feature    825..887
                     /gene="OR10G2"
                     /gene_synonym="OR14-41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC3.2);
                     transmembrane region"
     misc_feature    921..983
                     /gene="OR10G2"
                     /gene_synonym="OR14-41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGC3.2);
                     transmembrane region"
ORIGIN
        1 ggcatcaatc atccgacaaa agcattcact tacaacatca ttgtgctgtg tttctcttgt
       61 caaacgtcac cattcatctt agcagactac aaaaagacat gggaaagacc aaaaacacat
      121 cgctggatgc cgtggtgaca gatttcattc ttctgggttt gtctcacccc ccaaatctaa
      181 gaagcctcct cttcctggtc ttcttcatca tttacatcct cactcagctg gggaacctgc
      241 tcattctgct caccatgtgg gctgacccga agctctgtgc tcgccccatg tacattcttc
      301 tgggagtgct ctcattcctg gacatgtggc tctcctcagt caccgttcct ctgcttattt
      361 tggattttac tccttccatc aaggctatcc cgtttggtgg ctgtgtggct caactgtatt
      421 tctttcactt cctgggcagc acccagtgct tcctctacac cttgatggcc tatgacaggt
      481 acctggcaat atgtcagccc ctgcgctacc cagtgctcat gaatgggagg ttatgcacag
      541 tccttgtggc tggagcttgg gtcgccggct ccatgcatgg gtctatccag gccaccttga
      601 ccttccgcct gccctactgt gggcccaatc aggtggatta ctttatctgt gacatccccg
      661 cagtattgag actggcctgt gctgacacaa ctgtcaatga gcttgtgacc tttgtggacg
      721 tcggggtagt ggccgccagt tgcttcatgt taattctgct ctcgtatgcc aacatagtaa
      781 atgccatcct gaagatacgc accactgatg ggaggcgccg ggccttctcc acctgtggct
      841 cccacctaat cgtggtcaca gtctactatg tcccctgtat tttcatctac cttagggctg
      901 gctccaaaga ccccctggat ggggcagcgg ctgtgtttta cactgttgtc actccattac
      961 tgaaccccct catctataca ctgaggaacc aggaagtgaa gtctgccctg aagaggataa
     1021 cagcaggttg aaggactgaa tgaaaataag taactacatc tgcatcatta tcactgccac
     1081 tctcttcagc tactgctgca tgtga
//
LOCUS       NM_001005467            2170 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily B member 3
            (OR8B3), mRNA.
ACCESSION   NM_001005467
VERSION     NM_001005467.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2170)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641139.1/ ENSP00000493120.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001804.5.
            On Jul 22, 2020 this sequence version replaced NM_001005467.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2170
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..2170
                     /gene="OR8B3"
                     /gene_synonym="OR11-311"
                     /note="olfactory receptor family 8 subfamily B member 3"
                     /db_xref="GeneID:390271"
                     /db_xref="HGNC:HGNC:8472"
     misc_feature    341..343
                     /gene="OR8B3"
                     /gene_synonym="OR11-311"
                     /note="upstream in-frame stop codon"
     CDS             353..1294
                     /gene="OR8B3"
                     /gene_synonym="OR11-311"
                     /note="olfactory receptor OR11-311"
                     /codon_start=1
                     /product="olfactory receptor 8B3"
                     /protein_id="NP_001005467.1"
                     /db_xref="CCDS:CCDS31709.1"
                     /db_xref="GeneID:390271"
                     /db_xref="HGNC:HGNC:8472"
                     /translation="MLARNNSLVTEFILAGLTDHPEFQQPLFFLFLVVYIVTMVGNLGL
                     IILFGLNSHLHTPMYYFLFNLSFIDLCYSSVFTPKMLMNFVSKKNIISYVGCMTQLFFF
                     LFFVISECYMLTSMAYDRYVAICNPLLYKVTMSHQVCSMLTFAAYIMGLAGATAHTGCM
                     LRLTFCSANIINHYLCDILPLLQLSCTSTYVNEVVVLIVVGINIMVPSCTILISYVFIV
                     TSILHIKSTQGRSKAFSTCSSHVIALSLFFGSAAFMYIKYSSGSMEQGKVSSVFYTNVV
                     PMLNPLIYSLRNKDVKVALRKALIKIQRRNIF"
     misc_feature    365..367
                     /gene="OR8B3"
                     /gene_synonym="OR11-311"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGG8.3); glycosylation site"
     misc_feature    428..490
                     /gene="OR8B3"
                     /gene_synonym="OR11-311"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG8.3);
                     transmembrane region"
     misc_feature    515..577
                     /gene="OR8B3"
                     /gene_synonym="OR11-311"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG8.3);
                     transmembrane region"
     misc_feature    650..712
                     /gene="OR8B3"
                     /gene_synonym="OR11-311"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG8.3);
                     transmembrane region"
     misc_feature    770..832
                     /gene="OR8B3"
                     /gene_synonym="OR11-311"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG8.3);
                     transmembrane region"
     misc_feature    944..1003
                     /gene="OR8B3"
                     /gene_synonym="OR11-311"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG8.3);
                     transmembrane region"
     misc_feature    1064..1126
                     /gene="OR8B3"
                     /gene_synonym="OR11-311"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG8.3);
                     transmembrane region"
     misc_feature    1163..1225
                     /gene="OR8B3"
                     /gene_synonym="OR11-311"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGG8.3);
                     transmembrane region"
ORIGIN
        1 acttactggg ggatatgtaa tcaggtccaa aagaattgta agccttgagc aaatgccatg
       61 tgctctatga catggtagct ctggtttgaa gtgcagtttt ccaacaaacc ctcttggcaa
      121 atttataaat aatagtttga tctacaccac aaaatgattc ccagaacatt cagattctga
      181 gatctctgct caatgctttt gccagtcaag ggagaagaag attctgtgac tacatctgat
      241 caacatagat accttcacag ccatttcttc ctccagggca gtggaggtga aacacatatc
      301 aatggtcagc actgagttct ctgagtggaa ggaagatttt tgaagacaaa aaatgctggc
      361 tagaaacaac tccttagtga ctgaatttat tcttgctgga ttaacagatc atccagagtt
      421 ccagcaaccc ctctttttcc tgtttctagt ggtctacatt gtcaccatgg taggcaacct
      481 tggcttgatc attcttttcg gtctaaattc tcacctccac acaccaatgt actatttcct
      541 cttcaatctc tccttcattg atctctgtta ctcctctgtt ttcactccca aaatgctaat
      601 gaactttgta tcaaaaaaga atattatctc ctatgttggg tgcatgactc agctgttttt
      661 ctttctcttt tttgtcatct ctgaatgtta catgttgacc tcaatggcat atgatcgcta
      721 tgtggccatc tgtaatccat tgctgtataa ggtcaccatg tcccatcagg tctgttctat
      781 gctcactttt gctgcttaca taatgggatt ggctggagcc acggcccaca ccgggtgcat
      841 gcttagactc accttctgca gtgctaatat catcaaccat tacttgtgtg acatactccc
      901 cctcctccag ctttcctgca ccagcaccta tgtcaacgag gtggttgttc tcattgttgt
      961 gggtattaat atcatggtac ccagttgtac catcctcatt tcttatgttt tcattgtcac
     1021 tagcattctt catatcaaat ccactcaagg aagatcaaaa gccttcagta cttgtagctc
     1081 tcatgtcatt gctctgtctc tgttttttgg gtcagcggca ttcatgtata ttaaatattc
     1141 ttctggatct atggagcagg gaaaagtttc ttctgttttc tacactaatg tggtgcccat
     1201 gctcaatcct ctcatctaca gtttgaggaa caaggatgtc aaagttgcac tgaggaaagc
     1261 tctgattaaa attcagagaa gaaatatatt ctaattagaa gcagtaataa tgtaaaacga
     1321 ttgaagaact ttaaattttt attagtgtgt tccatgaaga gattttgttg tttctacaga
     1381 tggtgttatg tgtgatttaa taaacttgtc ttatcatttc tcttatgaaa tcatcttgtc
     1441 tctttttttg gttttgcatc tctggcactt ctcacaattt tactaaatag gtcatggcat
     1501 ctttgtaaaa ggaacatatg cactgatatt tttcattatc attttatatc cttcctctct
     1561 cctgggctgt tcttaattgg acatatatgg taaatttcat gaattataaa gatgtcaaag
     1621 tcacggcttt ctcacctaaa ctcagaagtg ccaaatatga tagaagcatt cttattttta
     1681 tcaacattgt tacagatata ggcagctgga tttgatgaaa tgtctccatt acaaatggta
     1741 ggtagcttaa agcagaatga gcaccccttg atcttgtcct tttgttctat attgtcacca
     1801 ttttgccttt tattattctg acttttcttg ttccctttga gaatggcaaa atttgtacca
     1861 catgccgttt gcttctgaga acctctatca gtccagtgca tttgatacag cagagaatat
     1921 gtgtgtctcc accttttatt gccaaaggca gcatttacag aggatgatta gagaaataat
     1981 acatgtggac ctcaggattc caataagtgg gtccattgtt tacattataa aactttcatt
     2041 cattgctatc taaaacagca ttgaaaattt tgaaaaaagc gtgtagttcc tactgtaaat
     2101 gttatttttt tactcgttat aggtaaatac tgcacattaa gttagcagaa atattttaca
     2161 caatggttac
//
LOCUS       NM_001005468            1093 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily B member 2
            (OR8B2), mRNA.
ACCESSION   NM_001005468
VERSION     NM_001005468.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1093)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 1093)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC018065.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000641451.2/ ENSP00000493235.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001804.5.
            On Aug 6, 2020 this sequence version replaced NM_001005468.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1093
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..1093
                     /gene="OR8B2"
                     /gene_synonym="OR11-309; OR11-310"
                     /note="olfactory receptor family 8 subfamily B member 2"
                     /db_xref="GeneID:26595"
                     /db_xref="HGNC:HGNC:8471"
     misc_feature    132..134
                     /gene="OR8B2"
                     /gene_synonym="OR11-309; OR11-310"
                     /note="upstream in-frame stop codon"
     CDS             144..1085
                     /gene="OR8B2"
                     /gene_synonym="OR11-309; OR11-310"
                     /note="olfactory receptor OR11-309; olfactory receptor
                     OR11-310"
                     /codon_start=1
                     /product="olfactory receptor 8B2"
                     /protein_id="NP_001005468.1"
                     /db_xref="CCDS:CCDS31708.1"
                     /db_xref="GeneID:26595"
                     /db_xref="HGNC:HGNC:8471"
                     /translation="MLARNNSLVTEFILAGLTDHPEFRQPLFFLFLVIYIVTMVGNLGL
                     ITLFGLNSHLHTPMYYFLFNLSFIDLCYSSVFTPKMLMNFVSKKNIISNVGCMTRLFFF
                     LFFVISECYMLTSMAYDRYVAICNPLLYKVTMSHQVCSMLTFAAYIMGLAGATAHTGCM
                     LRLTFCSANIINHYLCDILPLLQLSCTSTYVNEVVVLIVVGTNITVPSCTILISYVFIV
                     TSILHIKSTQGRSKAFSTCSSHVIALSLFFGSAAFMYIKYSSGSMEQGKVSSVFYTNVV
                     PMLNPLIYSLRNKDVKVALRKALIKIQRRNIF"
     misc_feature    156..158
                     /gene="OR8B2"
                     /gene_synonym="OR11-309; OR11-310"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96RD0.3); glycosylation site"
     misc_feature    219..281
                     /gene="OR8B2"
                     /gene_synonym="OR11-309; OR11-310"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD0.3);
                     transmembrane region"
     misc_feature    306..368
                     /gene="OR8B2"
                     /gene_synonym="OR11-309; OR11-310"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD0.3);
                     transmembrane region"
     misc_feature    441..503
                     /gene="OR8B2"
                     /gene_synonym="OR11-309; OR11-310"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD0.3);
                     transmembrane region"
     misc_feature    561..623
                     /gene="OR8B2"
                     /gene_synonym="OR11-309; OR11-310"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD0.3);
                     transmembrane region"
     misc_feature    735..794
                     /gene="OR8B2"
                     /gene_synonym="OR11-309; OR11-310"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD0.3);
                     transmembrane region"
     misc_feature    855..917
                     /gene="OR8B2"
                     /gene_synonym="OR11-309; OR11-310"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD0.3);
                     transmembrane region"
     misc_feature    954..1016
                     /gene="OR8B2"
                     /gene_synonym="OR11-309; OR11-310"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RD0.3);
                     transmembrane region"
ORIGIN
        1 gggagaagaa gattctttga ctacatgtgg tcaacgtaga taccttcacc accagttcta
       61 cctccagggc agtggaggtg aaacacatat caatggtcag cactgagttc tctgagtgga
      121 aggaagattt ttgaagacaa aaaatgctgg ctagaaacaa ctccttagtg actgaattta
      181 ttcttgctgg attaacagat catccagagt tccggcaacc cctctttttc ctgtttctag
      241 tgatctacat tgtcaccatg gtaggcaacc ttggcttgat cactcttttc ggtctaaatt
      301 ctcacctcca cacaccaatg tactatttcc tcttcaatct ctccttcatt gatctctgtt
      361 actcctctgt tttcactccc aaaatgctaa tgaactttgt gtcaaaaaag aatattatct
      421 ccaatgttgg gtgcatgact cggctgtttt tctttctctt tttcgtcatc tctgaatgtt
      481 acatgttgac ttcaatggca tatgatcgct atgtggccat ctgtaatcca ttgctgtata
      541 aggtcaccat gtcccatcag gtctgttcta tgctcacttt tgctgcttac ataatgggat
      601 tggctggagc cacggcccac accgggtgca tgcttagact caccttctgc agtgctaata
      661 tcatcaacca ttacttgtgt gacatactcc ccctcctcca gctttcctgc accagcacct
      721 atgtcaacga ggtggttgtt ctcattgttg tgggtactaa tatcacggta cccagttgta
      781 ccatcctcat ttcttatgtt ttcattgtca ctagcattct tcatatcaaa tccactcaag
      841 gaagatcaaa agccttcagt acttgtagct ctcatgtcat tgctctgtct ctgttttttg
      901 ggtcagcggc attcatgtat attaaatatt cttctggatc tatggagcag ggaaaagttt
      961 cttctgtttt ctacactaat gtggtgccca tgctcaatcc cctcatctac agtttgagga
     1021 acaaggatgt caaagttgca ctgaggaaag ctctgattaa aattcagagg agaaatatat
     1081 tctaattaga agc
//
LOCUS       NM_001005469            1046 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily B member 3
            (OR5B3), mRNA.
ACCESSION   NM_001005469
VERSION     NM_001005469.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1046)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641865.1/ ENSP00000493217.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP002345.4.
            On Aug 4, 2020 this sequence version replaced NM_001005469.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1046
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..1046
                     /gene="OR5B3"
                     /gene_synonym="OR11-239; OR5B13; OST129"
                     /note="olfactory receptor family 5 subfamily B member 3"
                     /db_xref="GeneID:441608"
                     /db_xref="HGNC:HGNC:8324"
     misc_feature    71..73
                     /gene="OR5B3"
                     /gene_synonym="OR11-239; OR5B13; OST129"
                     /note="upstream in-frame stop codon"
     CDS             101..1045
                     /gene="OR5B3"
                     /gene_synonym="OR11-239; OR5B13; OST129"
                     /note="olfactory receptor OR11-239; olfactory receptor,
                     family 5, subfamily B, member 13; olfactory receptor 5B13"
                     /codon_start=1
                     /product="olfactory receptor 5B3"
                     /protein_id="NP_001005469.1"
                     /db_xref="CCDS:CCDS31549.1"
                     /db_xref="GeneID:441608"
                     /db_xref="HGNC:HGNC:8324"
                     /translation="MENKTEVTQFILLGLTNDSELQVPLFITFPFIYIITLVGNLGIIV
                     LIFWDSCLHNPMYFFLSNLSLVDFCYSSAVTPIVMAGFLIEDKVISYNACAAQMYIFVA
                     FATVENYLLASMAYDRYAAVCKPLHYTTTMTTTVCARLAIGSYLCGFLNASIHTGDTFS
                     LSFCKSNEVHHFFCDIPAVMVLSCSDRHISELVLIYVVSFNIFIALLVILISYTFIFIT
                     ILKMHSASVYQKPLSTCASHFIAVGIFYGTIIFMYLQPSSSHSMDTDKMAPVFYTMVIP
                     MLNPLVYSLRNKEVKSAFKKVVEKAKLSVGWSV"
     misc_feature    107..109
                     /gene="OR5B3"
                     /gene_synonym="OR11-239; OR5B13; OST129"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH48.1); glycosylation site"
     misc_feature    149..151
                     /gene="OR5B3"
                     /gene_synonym="OR11-239; OR5B13; OST129"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH48.1); glycosylation site"
     misc_feature    170..232
                     /gene="OR5B3"
                     /gene_synonym="OR11-239; OR5B13; OST129"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH48.1);
                     transmembrane region"
     misc_feature    257..319
                     /gene="OR5B3"
                     /gene_synonym="OR11-239; OR5B13; OST129"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH48.1);
                     transmembrane region"
     misc_feature    392..454
                     /gene="OR5B3"
                     /gene_synonym="OR11-239; OR5B13; OST129"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH48.1);
                     transmembrane region"
     misc_feature    494..556
                     /gene="OR5B3"
                     /gene_synonym="OR11-239; OR5B13; OST129"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH48.1);
                     transmembrane region"
     misc_feature    557..559
                     /gene="OR5B3"
                     /gene_synonym="OR11-239; OR5B13; OST129"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH48.1); glycosylation site"
     misc_feature    683..745
                     /gene="OR5B3"
                     /gene_synonym="OR11-239; OR5B13; OST129"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH48.1);
                     transmembrane region"
     misc_feature    806..868
                     /gene="OR5B3"
                     /gene_synonym="OR11-239; OR5B13; OST129"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH48.1);
                     transmembrane region"
     misc_feature    908..970
                     /gene="OR5B3"
                     /gene_synonym="OR11-239; OR5B13; OST129"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH48.1);
                     transmembrane region"
ORIGIN
        1 aatgttccat ggctgatttt ctgattgcag aacaactatt ctgtattgac tgtttctgct
       61 catccagctg taagcatcct gtgagtcccc cagagcagtg atggaaaata agacagaagt
      121 aacacaattc attcttctag gactaaccaa tgactcagaa ctgcaggttc ccctctttat
      181 aacgttcccc ttcatctata ttatcactct ggttggaaac ctgggaatta ttgtattgat
      241 attctgggat tcctgtctcc acaatcccat gtactttttt ctcagtaact tgtctctagt
      301 ggacttttgc tactcttcag ctgtcactcc catcgtcatg gctggattcc ttatagaaga
      361 caaggtcatc tcttacaatg catgtgctgc tcaaatgtat atctttgtag cttttgccac
      421 tgtggaaaat tacctcttgg cctcaatggc ctatgaccgc tatgcagcag tgtgcaaacc
      481 cctacattac accacaacca tgacaacaac tgtgtgtgct cgtctggcca taggctccta
      541 cctctgtggt ttcctgaatg cctccatcca cactggggac acatttagtc tctctttctg
      601 taagtccaat gaagtccatc actttttctg tgatattcca gcagtcatgg ttctctcttg
      661 ctctgataga catattagcg agcttgttct tatttatgtt gtgagcttca atatctttat
      721 agctctcctg gttatcttga tatcctacac attcattttt atcaccatcc taaagatgca
      781 ctcagcttca gtataccaga agcctttgtc cacctgtgcc tctcatttca ttgcagtcgg
      841 catcttctat gggactatta tcttcatgta cttacaaccc agctccagtc actccatgga
      901 cacagacaaa atggcacctg tgttctatac aatggtcatc cccatgctga accctctggt
      961 ctatagtctg aggaacaagg aagtgaagag tgcattcaag aaagttgttg agaaggcaaa
     1021 attgtctgta ggatggtcag tttaac
//
LOCUS       NM_001005470             930 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily B member 1
            (OR4B1), mRNA.
ACCESSION   NM_001005470
VERSION     NM_001005470.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 930)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 930)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309562.3/ ENSP00000311605.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC026975.5.
            On Oct 6, 2004 this sequence version replaced XM_497275.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..930
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..930
                     /gene="OR4B1"
                     /gene_synonym="OR11-106; OST208"
                     /note="olfactory receptor family 4 subfamily B member 1"
                     /db_xref="GeneID:119765"
                     /db_xref="HGNC:HGNC:8290"
     CDS             1..930
                     /gene="OR4B1"
                     /gene_synonym="OR11-106; OST208"
                     /note="olfactory receptor OR11-106"
                     /codon_start=1
                     /product="olfactory receptor 4B1"
                     /protein_id="NP_001005470.1"
                     /db_xref="CCDS:CCDS31485.1"
                     /db_xref="GeneID:119765"
                     /db_xref="HGNC:HGNC:8290"
                     /translation="MASTSNVTELIFTGLFQDPAVQSVCFVVFLPVYLATVVGNGLIVL
                     TVSISKSLDSPMYFFLSCLSLVEISYSSTIAPKFIIDLLAKIKTISLEGCLTQIFFFHF
                     FGVAEILLIVVMAYDCYVAICKPLHYMNIISRQLCHLLVAGSWLGGFCHSIIQILVIIQ
                     LPFCGPNVIDHYFCDLQPLFKLACTDTFMEGVIVLANSGLFSVFSFLILVSSYIVILVN
                     LRNHSAEGRHKALSTCASHITVVILFFGPAIFLYMRPSSTFTEDKLVAVFYTVITPMLN
                     PIIYTLRNAEVKIAIRRLWSKKENPGRE"
     misc_feature    16..18
                     /gene="OR4B1"
                     /gene_synonym="OR11-106; OST208"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGF8.1); glycosylation site"
     misc_feature    70..141
                     /gene="OR4B1"
                     /gene_synonym="OR11-106; OST208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF8.1);
                     transmembrane region"
     misc_feature    166..231
                     /gene="OR4B1"
                     /gene_synonym="OR11-106; OST208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF8.1);
                     transmembrane region"
     misc_feature    295..354
                     /gene="OR4B1"
                     /gene_synonym="OR11-106; OST208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF8.1);
                     transmembrane region"
     misc_feature    412..468
                     /gene="OR4B1"
                     /gene_synonym="OR11-106; OST208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF8.1);
                     transmembrane region"
     misc_feature    580..651
                     /gene="OR4B1"
                     /gene_synonym="OR11-106; OST208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF8.1);
                     transmembrane region"
     misc_feature    700..768
                     /gene="OR4B1"
                     /gene_synonym="OR11-106; OST208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF8.1);
                     transmembrane region"
     misc_feature    802..861
                     /gene="OR4B1"
                     /gene_synonym="OR11-106; OST208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF8.1);
                     transmembrane region"
ORIGIN
        1 atggccagta caagtaatgt gactgagttg attttcactg gccttttcca ggatccagct
       61 gtgcagagtg tatgctttgt ggtgtttctc cccgtgtacc ttgccacggt ggtgggcaat
      121 ggcctcatcg ttctgacggt cagtatcagc aagagtctgg attctcccat gtacttcttc
      181 cttagctgcc tgtccttggt ggagatcagt tattcctcca ctatcgcccc taaattcatc
      241 atagacttac ttgccaagat taaaaccatc tctctggaag gctgtctgac tcagatattc
      301 ttcttccact tctttggggt tgctgagatc cttttgattg tggtgatggc ctatgattgc
      361 tacgtggcca tttgcaagcc tcttcattat atgaacatta tcagtcgtca actgtgtcac
      421 cttctggtgg ctggttcctg gctggggggc ttttgtcact ccataattca gattctcgtt
      481 atcatccaat tgcccttctg tggtcccaat gtgattgacc actatttctg tgacctccag
      541 cctttattca agcttgcctg cactgacacc ttcatggagg gggttattgt gttggccaac
      601 agtggattat tctctgtctt ctccttcctc atcttggtgt cctcttatat tgtcattctg
      661 gtcaacttga ggaaccattc tgcagagggg aggcacaaag ccctctccac ctgtgcttct
      721 cacatcacag tggtcatctt gttttttgga cctgctatct tcctctacat gcgaccttct
      781 tccactttca ctgaagataa acttgtggct gtattctaca cggtcatcac ccccatgctg
      841 aaccccatca tttacacact caggaatgca gaggtgaaaa tcgccataag aagattgtgg
      901 agcaaaaagg agaatccagg gagggagtga
//
LOCUS       NM_001005471            4670 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily T member 6
            (OR2T6), mRNA.
ACCESSION   NM_001005471
VERSION     NM_001005471.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4670)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641644.1/ ENSP00000493366.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC138089.2.
            On Aug 14, 2020 this sequence version replaced NM_001005471.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..4670
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..4670
                     /gene="OR2T6"
                     /gene_synonym="OR2T6P; OR2T9; OST703"
                     /note="olfactory receptor family 2 subfamily T member 6"
                     /db_xref="GeneID:254879"
                     /db_xref="HGNC:HGNC:15018"
     misc_feature    438..440
                     /gene="OR2T6"
                     /gene_synonym="OR2T6P; OR2T9; OST703"
                     /note="upstream in-frame stop codon"
     CDS             468..1394
                     /gene="OR2T6"
                     /gene_synonym="OR2T6P; OR2T9; OST703"
                     /note="olfactory receptor, family 2, subfamily T, member 6
                     pseudogene; seven transmembrane helix receptor; olfactory
                     receptor 2T9"
                     /codon_start=1
                     /product="olfactory receptor 2T6"
                     /protein_id="NP_001005471.1"
                     /db_xref="CCDS:CCDS31114.1"
                     /db_xref="GeneID:254879"
                     /db_xref="HGNC:HGNC:15018"
                     /translation="MNENNETLTRGFTLMGLFTHNKCSGFFFGVICAVFFMAMIANGVM
                     IFLINIDPHLHTPMYFLLSHLSVIDTLYISTIVPKMLVDYLMGEGTISFIACTAQCFLY
                     MGFMGAEFFLLGLMAYDRYVAICNPLRYPVLISWRVCWMILASSWFGGALDSFLLTPIT
                     MSLPFCASHQINHFFCEAPTMLRLACGDKTTYETVMYVCCVAMLLIPFSVVTASYTRIL
                     ITVHQMTSAEGRKKAFATCSSHMMVVTLFYGAALYTYTLPQSYHTPIKDKVFSAFYTIL
                     TPLLNPLIYSLRNRDVMGALKRVVARC"
     misc_feature    480..482
                     /gene="OR2T6"
                     /gene_synonym="OR2T6P; OR2T9; OST703"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NHC8.2); glycosylation site"
     misc_feature    552..614
                     /gene="OR2T6"
                     /gene_synonym="OR2T6P; OR2T9; OST703"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC8.2);
                     transmembrane region"
     misc_feature    639..701
                     /gene="OR2T6"
                     /gene_synonym="OR2T6P; OR2T9; OST703"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC8.2);
                     transmembrane region"
     misc_feature    762..824
                     /gene="OR2T6"
                     /gene_synonym="OR2T6P; OR2T9; OST703"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC8.2);
                     transmembrane region"
     misc_feature    903..965
                     /gene="OR2T6"
                     /gene_synonym="OR2T6P; OR2T9; OST703"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC8.2);
                     transmembrane region"
     misc_feature    1077..1139
                     /gene="OR2T6"
                     /gene_synonym="OR2T6P; OR2T9; OST703"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC8.2);
                     transmembrane region"
     misc_feature    1176..1238
                     /gene="OR2T6"
                     /gene_synonym="OR2T6P; OR2T9; OST703"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC8.2);
                     transmembrane region"
     misc_feature    1281..1343
                     /gene="OR2T6"
                     /gene_synonym="OR2T6P; OR2T9; OST703"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHC8.2);
                     transmembrane region"
ORIGIN
        1 aactcttccc tctttggttc ctggagctgt gtgcacagtg ctgaagtatg acatccatgc
       61 cttcagttaa gtggtcatct tcaaatacct ctaactggca ctctcttttt ttttttgaag
      121 cttttgcctt ttaacctgga tctcctctca tcttttcaag gaaagatact aatatgaaga
      181 cagaaaaaaa gaagatcaag aaggttccct tttatctctt gtttctaagg tctcacctct
      241 tgtgaagttg tttgtaaaca attttgtctt tacctaatat tcctctctct ggatatatta
      301 tacctgtaac tccttctgat tcatcaggtc ctcacgagga gctcgttaga tgagatgcta
      361 cccattagat ggaggatctg cattttgggt ggacagtgga cagaataaat cttcagcccg
      421 tttttcccct caccacctga tccactcagc ctcttctaaa ccgtaccatg aatgaaaaca
      481 atgaaacctt gaccagaggc tttaccctca tggggctctt cactcacaat aaatgctcag
      541 gattcttttt cggtgtcatt tgtgccgtct tcttcatggc catgatagct aatggggtca
      601 tgatcttcct gattaacata gaccctcatc tccacacccc catgtacttc ctcctcagcc
      661 acctctccgt cattgacaca ttatacatct ccaccattgt gcccaagatg ctggtagatt
      721 atctcatggg cgaggggacc atctctttca tcgcctgcac tgctcagtgc tttctctaca
      781 tgggctttat gggggctgaa ttcttcctgc tggggctcat ggcctatgac cgctacgtgg
      841 ccatctgcaa cccactgcgc tatcctgtcc tcatcagctg gcgggtctgc tggatgatcc
      901 tggccagctc ttggttcggt ggggctttgg acagttttct cctcaccccc attaccatga
      961 gtctcccgtt ctgtgcctct caccaaatca atcacttttt ctgtgaggca cccaccatgc
     1021 tgaggctggc ctgtggggac aaaaccacct atgaaacagt gatgtatgtg tgctgcgttg
     1081 caatgctgct gatccccttc tcggtggtga ctgcatccta caccaggatt ctcatcacag
     1141 tgcatcagat gacatcggct gaagggagga agaaggcctt tgccacctgc tcttcacaca
     1201 tgatggtggt gacattgttc tatggggctg ccttgtatac gtatacgctt ccccaatctt
     1261 accacacccc aatcaaagat aaggtcttct ctgcctttta taccatcctc acacccttat
     1321 taaaccctct catctacagt ctgaggaaca gggatgtgat gggtgccttg aagagagttg
     1381 tggcaagatg ttaggggaca tgtggtgtga tgaggaaaga attctgatgg tctaaaacct
     1441 ccacatcctg ttcaggcata tatggggtcg tatcatggat accacggatg atgctgacag
     1501 gaactttcaa taccagctgt gctaaatggt gtatcaacag tacccccatc aaaaatggga
     1561 agttgctgta acagtcacac acaaataatg ccagagttct agaaacacca ctcatgttta
     1621 ttcttctttt gtttctactg attccaagtc ttctctcata tcacttctct gattgcagtt
     1681 tgtgtatatg aatgccccaa aatgttgagt taatattaca tattctgccc attttcaatg
     1741 gctccataag aactggtgat tttgactata ttgtttaaac aatccatcaa ttggcttgtc
     1801 aaagatttag ggatgccaag gtttgaaaga catatgaaag agactaaact gtcataaaac
     1861 tgtaaaagaa aaatctacat agacttacac caagatttag aaaatccaaa tatctcttct
     1921 ttgagtaacc actgaaaaca ctcctccttt atctacattt ggagctaaaa aaaaatgaat
     1981 catgtgtttt gtagaaatgc caagactaaa tctttatggg ggagggagtc tgtaatgtta
     2041 gttttttaat atggtaacta actgttacat tggaagacac agcaaaaggt agttgagaaa
     2101 gaaatgccct attaactagc agtttctgta atcactttac agcttcttct ccaattcact
     2161 agcattttta aacttttggg atccctgtgc agatgttagt gttgttggag ctatttctac
     2221 caacttttct cttttaaaaa agtagtagac agcgtcatat ttttccttct ctatagcact
     2281 ggcttttgca ttggatagca ttgcaaagtg ggaaggaaat acccagcttt tcatgtgaaa
     2341 attagaactg gaaacccttg taaatgactt agtgtcatga gcggtgcaaa gttagaaata
     2401 accaggacca caaatgcttg tgtctttcca caatgtcagg attttattga tgctgtttca
     2461 atcacaaaag ccaccatgag ctacatagag ttcccaaggg ggcaactctc cttagtactt
     2521 ttcattcact tggtagtcag cgttgtgggc acacagactc aagccactcc acaagtcagt
     2581 caatattgca aaccatacat aatagtatac ttaatcaata tgtaaatgtt ataggtttaa
     2641 catttcacaa caaacaaact aacatttaac acaagaagga aaagggatag gagaaaggat
     2701 cacaaaccag tccaagggga gagaagaaga gaaaagcggt cctggtccag gccgggtggt
     2761 ccactggtct tgcaagaaag agtctctgag gtggcagaga cttcagcagc agatgccaag
     2821 ttttcatcac cagtgactgc aagatggcat cagttaacat ggctatttcg agctgctgaa
     2881 ggcctgctct tttacggtta cagagtcctc ccatgagaac tgatcatgga agagtgtgct
     2941 tgtttgagtc cttatctggt tggatacagt cttttatttt ttaatttgtt tagtagacaa
     3001 cacatcttat ccttgttgga aaagtgctct atgaaatata aaataaagtc tttttctaag
     3061 atggagttgg ctacgtcaag ggtgttctat acacttagta tgatttcttt ttaagtggct
     3121 aagaactgga gaaaaaatgt ttggcctaaa ctgtagacac agtagtaaaa accaggacca
     3181 catcccaaac ccctcaggcc acctctacaa gctgctgtgc caggctttgt actgtcattg
     3241 gtttaacaaa atccaagccg ggttcagtga cgttctgcag cgactgaaga tggtgggtga
     3301 atgaaagata gccacacctc cttttgtact gaaaaaagct gctgggtatt tgacaaaata
     3361 tttagccaaa tagaacagct caacttggca ttgggctgag cacttaatca agaaaataga
     3421 ccaggtcttg cctaacagag cagggttttc agttgaaatc caggaacagc ttttccgagg
     3481 ctcttcagct ggaggctcaa catctcctca atcttgtcag actgtcttgg acaacagtat
     3541 gtgccagata atatgaggga gcatttccaa ccaagaagat gttgaggtac aaaaaacaca
     3601 acaaatcaga agagaaggag agggctggcc cataagaact gatcatcagt ttcagctcca
     3661 cgtaaacacc atgtgaattt ctgtcaatca tacaatgctt ctgaggacca actttctttt
     3721 ttataaaatt tgacttaata catacttttt ttcttgtaag attttaaaat caagtaaaat
     3781 gatgaatgta ataaaacctt ataaatgcta gtcattattt cagctattct ttgaaaagat
     3841 gattgacttt tatattcagt ttttacaatt tctttcattt ctatcgatcc gttacagaca
     3901 aaagcacact ctcttgtaca gccactttgg aatacagttt gacagtttct tacaatattg
     3961 aacataatct tatcatatga tctggcaatt gtgtttcttg gtgttaactc tgctgatttg
     4021 gaaacttatg ttcacagtag atttttcata cattccaaaa catagactta atcagaaagt
     4081 ccttcagaaa ttaaatggat aaagtgtggc acatgcatac agtggaatat tatttagtgt
     4141 taaaaataaa tgatttatca agccattgga agacatggag gaaatttaaa tgtatattgt
     4201 gaagtgaaag aagccaatct gaaaaggctg catactgtgt gattccagct gcatgacatc
     4261 ctggaaaaaa caaaactgtg gatacaggaa aaagataagt gttgcaaggg gtctggggga
     4321 agtatggatg gatggacaga gcacagagga cttttagagc agtgaaacta ttgtatatga
     4381 cacagtaatt aatgttacat aagattatgc tacatggtac tatgtatttg tggaaaaaaa
     4441 catacaactc tggaacagaa agactcatcc ttatgtaaaa tatgaactat taataataat
     4501 gtatcaaaat tgattcatct attgtaacaa atgtactaca ctaatgccag atgttaacaa
     4561 tagggaaaag agaggggata tataaaaact ttctgaacta tccattcaat tttttggtaa
     4621 acctcattgt tctaaaatat aaaatttcat tttaaaacag ttttctaaca
//
LOCUS       NM_001005473            7706 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens phosphatidylinositol specific phospholipase C X domain
            containing 3 (PLCXD3), mRNA.
ACCESSION   NM_001005473
VERSION     NM_001005473.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7706)
  AUTHORS   Aljaibeji H, Mohammed AK, Alkayyali S, Hachim MY, Hasswan H,
            El-Huneidi W, Taneera J and Sulaiman N.
  TITLE     Genetic Variants of the PLCXD3 Gene Are Associated with Risk of
            Metabolic Syndrome in the Emirati Population
  JOURNAL   Genes (Basel) 11 (6), 665 (2020)
   PUBMED   32570874
  REMARK    GeneRIF: Genetic Variants of the PLCXD3 Gene Are Associated with
            Risk of Metabolic Syndrome in the Emirati Population. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 7706)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 7706)
  AUTHORS   Li Z, Zheng Z, Ruan J, Li Z, Zhuang X and Tzeng CM.
  TITLE     Integrated analysis miRNA and mRNA profiling in patients with severe
            oligozoospermia reveals miR-34c-3p downregulates PLCXD3 expression
  JOURNAL   Oncotarget 7 (33), 52781-52796 (2016)
   PUBMED   27486773
  REMARK    GeneRIF: One potential miRNA-target gene pair, miR-34c-3p and PLCXD3
            (Phosphatidylinositol-Specific Phospholipase C, X Domain Containing
            3), was identified in patients with severe oligozoospermia.
REFERENCE   4  (bases 1 to 7706)
  AUTHORS   Balendra R, Uphill J, Collinson C, Druyeh R, Adamson G, Hummerich H,
            Zerr I, Gambetti P, Collinge J and Mead S.
  TITLE     Variants of PLCXD3 are not associated with variant or sporadic
            Creutzfeldt-Jakob disease in a large international study
  JOURNAL   BMC Med Genet 17, 28 (2016)
   PUBMED   27055460
  REMARK    GeneRIF: We found no supportive evidence that PLCXD3 variants are
            associated with sporadic Creutzfeldt-Jakob disease. Publication
            Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK127142.1, BX648329.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467150,
            SAMN03267760 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000377801.8/ ENSP00000367032.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX648329.1, AK127142.1 and AC008830.7.
            On Nov 22, 2018 this sequence version replaced NM_001005473.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7706
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.1"
     gene            1..7706
                     /gene="PLCXD3"
                     /note="phosphatidylinositol specific phospholipase C X
                     domain containing 3"
                     /db_xref="GeneID:345557"
                     /db_xref="HGNC:HGNC:31822"
                     /db_xref="MIM:617016"
     CDS             76..1041
                     /gene="PLCXD3"
                     /codon_start=1
                     /product="PI-PLC X domain-containing protein 3"
                     /protein_id="NP_001005473.1"
                     /db_xref="CCDS:CCDS34150.1"
                     /db_xref="GeneID:345557"
                     /db_xref="HGNC:HGNC:31822"
                     /db_xref="MIM:617016"
                     /translation="MASSQGKNELKLADWMATLPESMHSIPLTNLAIPGSHDSFSFYID
                     EASPVGPEQPETVQNFVSVFGTVAKKLMRKWLATQTMNFTGQLGAGIRYFDLRISTKPR
                     DPDNELYFAHGLFSAKVNEGLEEINAFLTDHHKEVVFLDFNHFYGMQKYHHEKLVQMLK
                     DIYGNKMCPAIFAQEVSLKYLWEKDYQVLVFYHSPVALEVPFLWPGQMMPAPWANTTDP
                     EKLIQFLQASITERRKKGSFFISQVVLTPKASTVVKGVASGLRETITERALPAMMQWVR
                     TQKPGESGINIVTADFVELGDFISTVIKLNYVFDEGEANT"
     regulatory      7685..7690
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLCXD3"
                     /note="hexamer: AATAAA"
     polyA_site      7706
                     /gene="PLCXD3"
                     /note="major polyA site"
ORIGIN
        1 attggattag cggcagcagc ctgccagcct gcccgaggag tgctgggacc agcgcgctgc
       61 acgccgactg gcacgatggc ctcgtctcag gggaaaaacg agctgaaatt agccgactgg
      121 atggcaactc tgccggagag catgcacagc atccccctca ccaatttagc cattccaggg
      181 tctcatgatt ccttcagctt ctacattgat gaagcctctc cagtaggtcc tgagcagcca
      241 gaaactgtcc agaattttgt ctctgtgttt ggaactgtgg ccaaaaagct catgcggaaa
      301 tggttagcca ctcagacaat gaattttact ggccagctag gagctggaat tcgttatttt
      361 gatcttcgaa tttccaccaa gcccagagac cccgacaatg aactctattt tgctcatggt
      421 ttgttcagtg ccaaagtcaa tgaaggcctt gaggagatca atgcattcct cacagatcac
      481 cataaggagg tagtgttctt ggacttcaac cacttttatg ggatgcagaa atatcaccat
      541 gaaaaactgg tccaaatgct gaaagacatc tatggaaata aaatgtgccc agcgattttt
      601 gcccaggaag ttagtttaaa gtacctgtgg gagaaggact atcaagtgct ggtcttctac
      661 catagtccag tggctctgga agtgcccttt ctctggcctg ggcagatgat gccagcaccc
      721 tgggccaaca ccacagaccc cgagaaactg atccagtttc ttcaagcatc catcactgag
      781 agaagaaaga agggatcgtt ttttatatct caggtggtgc tgacccccaa agctagcact
      841 gtggtcaaag gggtggcaag tggcctcaga gaaacaatca cagaaagagc tcttcctgcc
      901 atgatgcagt gggtccgcac gcagaagcca ggagagagtg gcatcaatat tgtcactgcc
      961 gattttgtag aacttggtga ctttatcagc actgtcataa agctcaacta tgtctttgat
     1021 gaaggagaag ccaacacttg atagcactac ttggagtttc catgaataag atggagaaag
     1081 ctcattgtat tagggcatac tatctgtaaa cactctgatc ttcctattcc actgagtctc
     1141 tgaagggaat agggctggta gtgggtggga aaaggggaaa aactgtttct tcagtgatta
     1201 caatcatact cttcattact ataaatattt catttcccat ttgatgagca aaatctactt
     1261 ctagtgttag gaataaaaaa aaaagaccag taactttgtt tttcaaaatt agtctttgta
     1321 acatagaatt catgagtgtt tacttgatta ggttctctat ttccagccta tgactcctac
     1381 gctgtctata ccctgcaacc tttctgctcc ctctcttgct cgctcttttt aatcagatgc
     1441 tgtatgggaa tcaaaacaat tgaatgccca acattttgtg tattacattg ttgtcttaaa
     1501 acttactagt tttgtgggac ttgttataat gctctatagt catccacagt tgggcaatca
     1561 tagctaattt ttggtcatag aaaatctgca tcaaatcagt ttccatgcat cagtaatatt
     1621 gaaggtcata atcagtgatt tttgttatat gaaaataata gtgtttcaca gtatttctat
     1681 ttaaggcagc tataaatata ggagaaaaat gtttttggag agctgtgaat gccaatttca
     1741 gagggaaaaa tggttgaggg gtgaaagaga tgtatggcat tttaatttgg caatctctta
     1801 aataatattg ccctgcaagt acccagtaaa tggtaaggta caagtgtgtt aaaattgaaa
     1861 actctgaaaa taactcttta aaaagccctc ttaatgatgc tcttgatgaa agaaaaagac
     1921 agaaggaagg aaggaaggaa ggaaggaagg aaggaaggaa ggaaggaagg aaaggaagaa
     1981 aggaagggag ggaggaaggg agggaagaag ggagggaagg acagaaggaa ggacgggagg
     2041 aaggaaggaa gggaggaagg aaggaaggaa gagagggagg gagggaggaa gagagggagg
     2101 gagggaggaa gagaggaagg aagaagaaaa agactgcaag ctttcctgcc aatttgggat
     2161 tttcaaatat ttaattctaa attccagatt ttaaggaaga tttttcaaga aactgcaagt
     2221 ttttgacttg aaggaaagaa agaggaaggc tggtagaagc agttagagca atgtgtttga
     2281 aattatgtcc atgaaatcac agggatctct gaaatatctt taggaaactt gaaatttatg
     2341 aggtctgaat ggacttgttt aaaattggct ctgactcctc acttctgagt ttcatcctat
     2401 ccgagggatg agattaaggc agaggcaaaa gtttcacaca aagtttctgc aacctaacgt
     2461 ttaatagtcc gggtctacag ggaagaacaa tgacacagct tgagcgttac ttcctccttc
     2521 gtgtcattgt gatatttgac aactctaaaa aataaaaaaa aaaaacttag agcacaataa
     2581 tccttgccta tgtacttcac aggaatattg tgaggtgttt ataaaattat aaaatttgat
     2641 gaaattctta caattattaa ttattttatt ttcatgttta gaaataatca caccccaata
     2701 gtttcctagg ataatacagt ccatgcaaag tagggtcata gagaaataaa agcatgccct
     2761 cagcttttaa tgaacttaaa tgtagcacat atggcttaat ctcttagact tagataaggg
     2821 agttcaattc aaaaccatat atgtcaagac cacaaataat caagagttga tttcaagatt
     2881 ataaatactc atgatcagaa aatagtactt attagcaatt aaagggagga aaagaaattg
     2941 tttatactga agagaatgtt tatgaggagt gtgtatgtac ctgtggtata ccaaatagca
     3001 tacatgtaca cacaaaaatg tgtgtataca tttgggttgt gtgtatacat cttgccatat
     3061 acaatataca aacatatgcc cattcctgtg atagcataca aattcaaaca tacagaaaca
     3121 cacacagata tggacacagt acaattcttc ttttcaaatg aagacattga taatattaaa
     3181 taatttaatt ttaagactga aacccttaat attgtgtgaa aaagagtaat aaaacctttg
     3241 aaagtagagt agatgatcac atcaaagtat ttttgtaaaa gaattctagt gtaggactta
     3301 attattttta aaatatattt cttctcttct ttccattttc ccttcccttg tagttttatt
     3361 atctttctgt cttttacacc tgctctttat gtgaaaatgt atatgaatcc ttttaaaatg
     3421 attaggatta ttgaaatgta tgtcccgtaa atttggtttt tgggcagact ttctctctaa
     3481 ctggctattc attcatcctt caggaggatc ttagccaaga atatttgcaa tgacacatga
     3541 atttaatttt ataaatataa tggaaaacag atttttcatc atatcatgaa taaaatatag
     3601 aggtaactat gttgtatttt cttgaaccta gatactttct catagtgttt gcttagaatt
     3661 aactttgtcc tatttgtcaa ctgggttctg gaaaaaaaca aacatgatga agcttttgaa
     3721 taattgtgca gttttttaac tagggaaagc tttgtactgc tgctaatgat atgcacccag
     3781 aaaccttgtt agacaaaagg cagtttcaag ccaatgctat ggtttccatg tggacataca
     3841 gtgcctatgt agcaggcact tagagtaaat ggacttgcct taatttataa aggagggaag
     3901 aggtagaagg gaaccatggg tcctccagct agagggggag tttactaaaa gggagtcctt
     3961 ggaaagggga atggagagaa ggtgcctttg actgtcttct atccattagt tctgccctgg
     4021 agcacactgg ggaagcaggc tgcgggcctt ccaaaagtaa aaaatggtga tatgcaatcg
     4081 aagcttatcc ttagcctatg cacatttgtc tcagctgggc attgtctttt cagagagctt
     4141 gtagcacaag ggctacacat gggcgccaag atggtggtag atacaccttg gtgcactttt
     4201 tgttttactt gtttcttaag actatttcac aagtcctgtg aggcaaaaaa acaaaacaaa
     4261 acaaaacaac caaacaaata caatctaact tttacccaat ctacagcagg aaatcaaagg
     4321 agtgggtgga atgagagaaa atatgcaaag agatcatttt taagtttgat ttcctgtctg
     4381 taattttcaa ggactaatat agcaaatttt tcttctgcca ttatcattta tgtctcccta
     4441 tttaccacac aataatgtaa atgcagagaa tgaggaggca tcttttaaaa gccttaggat
     4501 attctatatg atgacctcaa tattgacttt cagccatact gggaaaactt acttttcatg
     4561 gagtgccacc taacagtgaa tgtattagag tataaaatgt ttgccatgta tacacctgta
     4621 tgtgcacata cacacattac acacacacac agaatgcaca tttcacacac atatacttat
     4681 tattcaagtt gaaactgcac tctaatcaat ctgagtctat tgctgtttca actcttaaaa
     4741 tcaatatctc ctacattagt agatataaac ataattcaaa tatttaaata tttaagagga
     4801 gaaaagtaac tagaaaacca atgaaaagtg aggccatcag aaatagaaaa tgcctggcac
     4861 gaacagtcta tctaaattct caatttcact tcaaattaga gaatccataa tggactagaa
     4921 tataaattac aaacacatac acacatcttc acttaaagtt gttttaagtt ctttgaagtt
     4981 ctgacatgtt tttagccagg gttatttgtt caggttcttc cttgttagga ttccagactg
     5041 gaaagttgga agtctcagga aatgcatgtt tccatgagtt ttttagtttc acagttttac
     5101 agatccaacg acacaatctt ttaatctttg gtcactcaac caaacaggag ttccgtaggc
     5161 agagtgctca ctttgaattg ctaatagaaa ataatgcaca gtgtcctcag gatatgctaa
     5221 acaaggtttt taagagcatt ttattttaca gcactttagt cttttcagct agatttcagt
     5281 gacactatgg tgtaaatgct atatctgcca taacttattg gtggctcctg tgttacatac
     5341 agttttaaat aatgctctaa attgtttgtt ttcccaatga taatgataaa gtgttctgta
     5401 gaatttgtaa aacatgtcaa ttgaatctgt tgaaaattgt gtaattgtta tttcaattgt
     5461 gatactattt tgtaggtaat agttttaaac gtatatttgt atgagtcaaa agtatgtgct
     5521 tgtatgtggt atgtgtgtgt aagtatataa tatcttatca aaaatcaaac ttatcctaaa
     5581 gaaaaagggc acattgtgac cagccttaat ttattaacac ttttttgttg tttttgcaat
     5641 ttggatttaa aattgaaaca gaaattaagt ttttgttaaa aatggtgtct tttaattttg
     5701 tgaggaatgg gctttagaac ctatctgagt tcccacaagc aaactgtcca ccttgtgagg
     5761 taccccattg cttttcgtaa taatcaaaca tcaattcata tattaacttc attttcatac
     5821 agactaattt gttttcatca acaatagaac cagtacacct ttaaagttga ccttcccaac
     5881 atggcaccca tttttcttta atgataaatt ttccatgaaa aattgtttct ccaaaccatt
     5941 actttttaaa attcaatctt cccaagtaag atgaactgcc ttggtgttag gagagctttt
     6001 aaaggcccat ccatactagg tggttccaac atggttctct tctcgagaaa acaagcatgc
     6061 aacccacaca cttttctggt ctgccccacg tgtagaatta gtctagcaat agaaaactca
     6121 tgactgacaa ggatctacac atgtggtcat gcttgaagca aaaattctgt gaccttcttt
     6181 gggcttggat ctgattacag aatattaatt aactttctta tttcctttct ttctccatcc
     6241 ttagttattc cttttcaata tttagagttg ccaggtaaaa tacaggatat ccagtgaaat
     6301 ttaaatttca gataaacagt atttctttag catatttctc atatatttaa tcagacatac
     6361 tttcacttta aaaaaagttt atctgaaatt caaatgtaac tgggtatgtc ctatatattt
     6421 tttcctaaat ctcacaattc tatccacact gcctttctat ctttttcagc tgggctatct
     6481 ataaggggcg agatctacct ccctccatac ccttgtgttc agacacctta tgaatatctg
     6541 cagtcataat gtccttcaag aaagaaaaca ttggtcagct ctaggtcctg caaatgcttt
     6601 ttgaaggacg aactcaaata cagatgggat aatcaagtaa atatcttcat aggatcaatg
     6661 ccaccatgtt caacacttcc ctttgccagc ctgttgtgag gtccaagttt ccccattaat
     6721 cccttatata gcatttccca gtaactggga caaccaaaaa cacaccgaca tattagaaat
     6781 gctcctgaaa agtggcaaca ccgcctaact cagtaccagg acctctttta aattcaattt
     6841 cttttttctt tcagagagat aacaaacgaa ttcattattt cccccattca catcttacca
     6901 caaattattt ttatcaggtt aaaactggtc atctacggaa ttgtagaaag gtgacatagg
     6961 aactgtcttc actgctggaa gaataaaaga gtctgaggta tagacactgc cctggtgaca
     7021 ccttctcaga acattgttgg gggacagggg aggcaggcgc aagtagggga tagaatctga
     7081 ccctgacatg cagctatcac ctggcagaga gactcgtcaa agcaaattat aacgaccagt
     7141 actatttttt tttggaattg aaaacccaag aagccctaaa ataagaacag tgagatcaaa
     7201 ggctggtttc taaaacaatg cagaaaatag aaccatgttg gaattcctaa attctagctt
     7261 tcaaatacta ctgtttccaa cagtgaatcc ttgacagaga ctgaatgcag atggaatttt
     7321 gaaacatttt cagtagctac ctcctctcct gaaattccta taagtggcag aggaaaatcc
     7381 aaatccttta atataacatg tccatctcat gactcctgct tacacacatt tgtgttgatt
     7441 tgcttcattt ctggaggatg ggaatttgca gagctggtga catttccttc attagacacc
     7501 agaaattcac cagagagaga cagatctgtg ccttctcttt ttaggatctg gttattgata
     7561 ctttaataaa tgtggtgtaa agaaaatcca tggctacagt ctgtatagaa aatgtgaatt
     7621 ttttaaataa gattgtgttc ttaatgtaaa aaataaaagt ttatttgtat tcagtgaaat
     7681 gcctaataaa gtcctggtac caatta
//
LOCUS       NM_001005479            1113 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily H member 6
            (OR5H6), mRNA.
ACCESSION   NM_001005479
VERSION     NM_001005479.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1113)
  AUTHORS   Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ
            N, Wysocki CJ, Ge D and Lancet D.
  TITLE     Personal receptor repertoires: olfaction as a model
  JOURNAL   BMC Genomics 13, 414 (2012)
   PUBMED   22908908
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1113)
  AUTHORS   Menashe I, Aloni R and Lancet D.
  TITLE     A probabilistic classifier for olfactory receptor pseudogenes
  JOURNAL   BMC Bioinformatics 7, 393 (2006)
   PUBMED   16939646
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1113)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless         :: BC137524.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000615035.3/ ENSP00000480705.3
            polymorphic pseudogene           :: PMID: 22908908
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC137523.1.
            On Nov 9, 2018 this sequence version replaced NM_001005479.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. This olfactory receptor gene is a
            segregating pseudogene, where some individuals have an allele that
            encodes a functional olfactory receptor, while other individuals
            have an allele encoding a protein that is predicted to be
            non-functional. [provided by RefSeq, Jul 2015].
            Sequence Note: This gene is a segregating pseudogene. This RefSeq
            represents the protein encoded by the reference genome allele,
            which is predicted to be functional according to the Classifier for
            Olfactory Receptor Pseudogenes.
FEATURES             Location/Qualifiers
     source          1..1113
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     gene            1..1113
                     /gene="OR5H6"
                     /gene_synonym="OR3-11"
                     /note="olfactory receptor family 5 subfamily H member 6"
                     /db_xref="GeneID:79295"
                     /db_xref="HGNC:HGNC:14767"
     misc_feature    42..44
                     /gene="OR5H6"
                     /gene_synonym="OR3-11"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MFLYLCFIFQRTCSEE"
     CDS             90..1019
                     /gene="OR5H6"
                     /gene_synonym="OR3-11"
                     /note="olfactory receptor OR3-11"
                     /codon_start=1
                     /product="olfactory receptor 5H6"
                     /protein_id="NP_001005479.2"
                     /db_xref="CCDS:CCDS33800.2"
                     /db_xref="GeneID:79295"
                     /db_xref="HGNC:HGNC:14767"
                     /translation="MEEENATLLTEFVLTGFLHQPDCKIPLFLAFLVIYLITIMGNLGL
                     IVLIWKDPHLHIPMYLFLGSLAFVDASLSSTVTPKMLINFLAKSKMISLSECMVQFFSL
                     VTTVTTECFLLATMAYDRYVAICKALLYPVIMTNELCIQLLVLSFIGGLLHALIHEAFS
                     FRLTFCNSNIIQHFYCDIIPLLKISCTDSSINFLMVFIFAGSVQVFTIGTILISYTIIL
                     FTILEKKSIKGIRKAVSTCGAHLLSVSLYYGPLTFKYLGSASPQADDQDMMESLFYTVI
                     VPLLNPMIYSLRNKQVIASFTKMFKSNV"
ORIGIN
        1 caacacctct tccccaattt caactcacaa ttccattgca aatgttcctt tacctttgct
       61 tcatttttca gaggacatgc agtgaggaga tggaagagga aaatgcaaca ttgctgacag
      121 agtttgttct cacaggattt ttacatcaac ctgactgtaa aataccgctc ttcctggcat
      181 tcttggtaat atatctcatc accatcatgg ggaatcttgg tctaattgtt ctcatctgga
      241 aagaccctca ccttcatatc ccaatgtact tattccttgg gagtttagcc tttgtggatg
      301 cttcgttatc atccacagtg actccgaaga tgctgatcaa cttcttagct aagagtaaga
      361 tgatatctct ctctgaatgc atggtacaat ttttttccct tgtaaccact gtaaccacag
      421 aatgttttct cttggcaaca atggcatatg atcgctatgt agccatttgc aaagctttac
      481 tttatccagt cattatgacc aatgaactat gcattcagct attagtcttg tcatttatag
      541 gtggccttct tcatgcttta atccatgaag ctttttcatt cagattaacc ttctgtaatt
      601 ccaacataat acaacacttt tactgtgaca ttatcccatt gttaaagatt tcctgtactg
      661 attcctctat taactttcta atggttttta ttttcgcagg ttctgttcaa gtttttacca
      721 ttggaactat tcttatatct tatacaatta tcctctttac aatcttagaa aagaagtcta
      781 tcaaagggat acgaaaagct gtctccacct gtggggctca tctcttatct gtatctttat
      841 actatggccc cctcaccttc aaatatctgg gctctgcatc tccgcaagca gatgaccaag
      901 atatgatgga gtctctattt tacactgtca tagttccttt attaaatccc atgatctaca
      961 gcctgagaaa caagcaagta atagcttcat tcacaaaaat gttcaaaagc aatgtttaga
     1021 tctcatacaa tctctcttct ctatttacta aaattgtccc aagattgtgc aagttagagg
     1081 tgtctatgtc ttgccagcat tcaaagatga tgc
//
LOCUS       NM_001005480             957 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily A member 2
            (OR2A2), mRNA.
ACCESSION   NM_001005480
VERSION     NM_001005480.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 957)
  AUTHORS   Lee J, Kim J, Zinia SS, Park J, Won S and Kim WJ.
  TITLE     Prenatal phthalate exposure and cord blood DNA methylation
  JOURNAL   Sci Rep 13 (1), 7046 (2023)
   PUBMED   37120575
  REMARK    GeneRIF: Prenatal phthalate exposure and cord blood DNA methylation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 957)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 957)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136742.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000408979.3/ ENSP00000386209.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC091768.4.
            On Aug 4, 2007 this sequence version replaced NM_001005480.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on protein homology data.
FEATURES             Location/Qualifiers
     source          1..957
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q35"
     gene            1..957
                     /gene="OR2A2"
                     /gene_synonym="OR2A17P; OR2A2P; OR7-11; OST008"
                     /note="olfactory receptor family 2 subfamily A member 2"
                     /db_xref="GeneID:442361"
                     /db_xref="HGNC:HGNC:8230"
     CDS             1..957
                     /gene="OR2A2"
                     /gene_synonym="OR2A17P; OR2A2P; OR7-11; OST008"
                     /note="olfactory receptor, family 2, subfamily A, member 2
                     pseudogene; olfactory receptor, family 2, subfamily A,
                     member 17 pseudogene; olfactory receptor OR7-11; olfactory
                     receptor 2A17"
                     /codon_start=1
                     /product="olfactory receptor 2A2"
                     /protein_id="NP_001005480.2"
                     /db_xref="CCDS:CCDS43671.1"
                     /db_xref="GeneID:442361"
                     /db_xref="HGNC:HGNC:8230"
                     /translation="MEGNQTWITDITLLGFQVGPALAILLCGLFSVFYTLTLLGNGVIF
                     GIICLDSKLHTPMYFFLSHLAIIDMSYASNNVPKMLANLMNQKRTISFVPCIMQTFLYL
                     AFAVTECLILVVMSYDRYVAICHPFQYTVIMSWRVCTILVLTSWSCGFALSLVHEILLL
                     RLPFCGPRDVNHLFCEILSVLKLACADTWVNQVVIFATCVFVLVGPLSLILVSYMHILG
                     AILKIQTKEGRIKAFSTCSSHLCVVGLFFGIAMVVYMVPDSNQREEQEKMLSLFHSVFN
                     PMLNPLIYSLRNAQLKGALHRALQRKRSMRTVYGLCL"
     misc_feature    10..12
                     /gene="OR2A2"
                     /gene_synonym="OR2A17P; OR2A2P; OR7-11; OST008"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6IF42.2); glycosylation site"
     misc_feature    73..144
                     /gene="OR2A2"
                     /gene_synonym="OR2A17P; OR2A2P; OR7-11; OST008"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF42.2);
                     transmembrane region"
     misc_feature    169..234
                     /gene="OR2A2"
                     /gene_synonym="OR2A17P; OR2A2P; OR7-11; OST008"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF42.2);
                     transmembrane region"
     misc_feature    298..357
                     /gene="OR2A2"
                     /gene_synonym="OR2A17P; OR2A2P; OR7-11; OST008"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF42.2);
                     transmembrane region"
     misc_feature    415..471
                     /gene="OR2A2"
                     /gene_synonym="OR2A17P; OR2A2P; OR7-11; OST008"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF42.2);
                     transmembrane region"
     misc_feature    583..654
                     /gene="OR2A2"
                     /gene_synonym="OR2A17P; OR2A2P; OR7-11; OST008"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF42.2);
                     transmembrane region"
     misc_feature    706..774
                     /gene="OR2A2"
                     /gene_synonym="OR2A17P; OR2A2P; OR7-11; OST008"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF42.2);
                     transmembrane region"
     misc_feature    814..873
                     /gene="OR2A2"
                     /gene_synonym="OR2A17P; OR2A2P; OR7-11; OST008"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF42.2);
                     transmembrane region"
ORIGIN
        1 atggaaggca accagacatg gatcacagac atcaccctgc tgggattcca ggttggtcca
       61 gcactggcga ttctcctctg tggactcttc tctgtcttct atacactcac cctgctgggg
      121 aatggggtca tctttgggat tatctgcctg gactctaagc ttcacacacc catgtacttc
      181 ttcctctcac acctggccat cattgacatg tcctatgctt ccaacaatgt tcccaagatg
      241 ttggcaaacc taatgaacca gaaaagaacc atctcctttg ttccatgcat aatgcagact
      301 tttttgtatt tggcttttgc tgttacagag tgcctgattt tggtggtgat gtcctatgat
      361 aggtatgtgg ccatctgcca ccctttccag tacactgtca tcatgagctg gagagtgtgc
      421 acgatcctgg ttctcacgtc ctggtcatgt gggtttgccc tgtccctggt acatgaaatt
      481 ctccttctaa ggttgccctt ctgtgggccc cgggatgtga accacctctt ctgtgaaatt
      541 ctgtctgtcc tcaagctggc ctgtgctgac acctgggtta accaagtggt catatttgct
      601 acctgtgtgt ttgtcttagt cgggcctctt tccttgattc tggtctccta catgcacatc
      661 ctcggggcca tcctgaagat ccagacaaag gagggccgca taaaggcctt ctccacctgc
      721 tcctcccacc tgtgtgtggt tggactattc tttggcatag ccatggtggt ttacatggtc
      781 ccagactcta atcaacgaga ggagcaggag aaaatgctgt ccctgtttca cagtgtcttt
      841 aatccaatgc tgaaccccct gatctacagc ctgaggaatg ctcagttgaa gggcgccctc
      901 cacagagcac tccagaggaa gaggtccatg agaacggtgt atgggctttg cctttaa
//
LOCUS       NM_001005482            1566 bp    mRNA    linear   PRI 14-JUL-2023
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily H member 2
            (OR5H2), mRNA.
ACCESSION   NM_001005482
VERSION     NM_001005482.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1566)
  AUTHORS   Shibel R, Sarfstein R, Nagaraj K, Lapkina-Gendler L, Laron Z, Dixit
            M, Yakar S and Werner H.
  TITLE     The Olfactory Receptor Gene Product, OR5H2, Modulates Endometrial
            Cancer Cells Proliferation via Interaction with the IGF1 Signaling
            Pathway
  JOURNAL   Cells 10 (6), 1483 (2021)
   PUBMED   34204736
  REMARK    GeneRIF: The Olfactory Receptor Gene Product, OR5H2, Modulates
            Endometrial Cancer Cells Proliferation via Interaction with the IGF1
            Signaling Pathway. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1566)
  AUTHORS   Daly AK, Donaldson PT, Bhatnagar P, Shen Y, Pe'er I, Floratos A,
            Daly MJ, Goldstein DB, John S, Nelson MR, Graham J, Park BK, Dillon
            JF, Bernal W, Cordell HJ, Pirmohamed M, Aithal GP and Day CP.
  CONSRTM   DILIGEN Study; International SAE Consortium
  TITLE     HLA-B*5701 genotype is a major determinant of drug-induced liver
            injury due to flucloxacillin
  JOURNAL   Nat Genet 41 (7), 816-819 (2009)
   PUBMED   19483685
REFERENCE   3  (bases 1 to 1566)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: lack of evidence for use of
            upstream AUG
            MANE Ensembl match :: ENST00000355273.3/ ENSP00000347418.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC117473.3.
            On Nov 19, 2020 this sequence version replaced NM_001005482.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1566
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     gene            1..1566
                     /gene="OR5H2"
                     /gene_synonym="OR3-10"
                     /note="olfactory receptor family 5 subfamily H member 2"
                     /db_xref="GeneID:79310"
                     /db_xref="HGNC:HGNC:14752"
     misc_feature    336..338
                     /gene="OR5H2"
                     /gene_synonym="OR3-10"
                     /note="upstream in-frame stop codon"
     misc_feature    384..386
                     /gene="OR5H2"
                     /gene_synonym="OR3-10"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MSNED"
     CDS             399..1328
                     /gene="OR5H2"
                     /gene_synonym="OR3-10"
                     /note="olfactory receptor OR3-10"
                     /codon_start=1
                     /product="olfactory receptor 5H2"
                     /protein_id="NP_001005482.2"
                     /db_xref="CCDS:CCDS33801.2"
                     /db_xref="GeneID:79310"
                     /db_xref="HGNC:HGNC:14752"
                     /translation="MEQDNTTLLTEFVLTGLTYQPEWKMPLFLVFLVIYLITIVWNLGL
                     IALIWNDPQLHIPMYFFLGSLAFVDAWISSTVTPKMLVNFLAKNRMISLSECMIQFFSF
                     AFGGTTECFLLATMAYDRYVAICKPLLYPVIMNNSLCIRLLAFSFLGGFLHALIHEVLI
                     FRLTFCNSNIIHHFYCDIIPLFMISCTDPSINFLMVFILSGSIQVFTIVTVLNSYTFAL
                     FTILKKKSVRGVRKAFSTCGAHLLSVSLYYGPLIFMYLRPASPQADDQDMIDSVFYTII
                     IPLLNPIIYSLRNKQVIDSFTKMVKRNV"
     misc_feature    411..413
                     /gene="OR5H2"
                     /gene_synonym="OR3-10"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGV7.4); glycosylation site"
     misc_feature    483..545
                     /gene="OR5H2"
                     /gene_synonym="OR3-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGV7.4);
                     transmembrane region"
     misc_feature    567..629
                     /gene="OR5H2"
                     /gene_synonym="OR3-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGV7.4);
                     transmembrane region"
     misc_feature    690..752
                     /gene="OR5H2"
                     /gene_synonym="OR3-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGV7.4);
                     transmembrane region"
     misc_feature    828..890
                     /gene="OR5H2"
                     /gene_synonym="OR3-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGV7.4);
                     transmembrane region"
     misc_feature    978..1040
                     /gene="OR5H2"
                     /gene_synonym="OR3-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGV7.4);
                     transmembrane region"
     misc_feature    1116..1178
                     /gene="OR5H2"
                     /gene_synonym="OR3-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGV7.4);
                     transmembrane region"
     misc_feature    1212..1274
                     /gene="OR5H2"
                     /gene_synonym="OR3-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGV7.4);
                     transmembrane region"
ORIGIN
        1 tgtttctggt cttggccaga ggcatgcttc ccagcacact tgatggccac cttgcaggct
       61 gtaacccctt ataagaaata agtcttctct ccttttctaa atttacaaat agtgattttc
      121 ttaagttaac acacattaca tgcatttcta tcatctgcat tttaaaagta gattatttga
      181 tcacattttt agaattaaaa taattgcatt tattttgatt tcttatattt cccaaaacag
      241 tttccatcta ttacaggaat atgaaagaaa attaaaaggg tattgtaata agagtatgtt
      301 tttctatcaa cttccctccc ccagtatttg ctgtataagt cttagtgaat gctcttttac
      361 atttactgca tttcatttca gggatgtcga atgaggacat ggaacaggat aatacaacat
      421 tgctgacaga gtttgttctc acaggactta catatcagcc agagtggaaa atgcccctgt
      481 tcttggtgtt cttggtgatc tatctcatca ctattgtgtg gaaccttggt ctgattgctc
      541 ttatctggaa tgacccacaa cttcacatcc ccatgtactt ttttcttggg agtttagcct
      601 ttgttgatgc ttggatatct tccacagtaa ctcccaaaat gttggttaat ttcttggcca
      661 aaaacaggat gatatctctg tctgaatgca tgattcaatt tttttccttt gcatttggtg
      721 gaactacaga atgttttctc ttggcaacaa tggcatatga tcgctatgta gccatatgca
      781 aacctttact atatccagtg attatgaaca attcactatg catacggctg ttagccttct
      841 catttttagg tggcttcctc catgccttaa ttcatgaagt ccttatattc agattaacct
      901 tctgcaattc taacataata catcattttt actgtgatat tataccactg tttatgattt
      961 cctgtactga cccttctatt aattttctaa tggtttttat tttgtctggc tcaattcagg
     1021 tattcaccat tgtgacagtt cttaattctt acacatttgc tcttttcaca atcctaaaaa
     1081 agaagtctgt tagaggcgta aggaaagcct tttccacctg tggagcccat ctcttatctg
     1141 tctctttata ttatggccca cttatcttca tgtatttgcg ccctgcatct ccacaagcag
     1201 atgaccaaga tatgatagac tctgtctttt atacaatcat aattcctttg ctaaatccca
     1261 ttatctacag tctgagaaat aaacaagtaa tagattcatt cacaaaaatg gtaaaaagaa
     1321 atgtttagat ttcatagtga tatctctcat tttcagtaaa aagaattttg cagttagata
     1381 aggtgttttg ctaagtgttc aaagttattg taaatataat tgttttagca ttttaatgac
     1441 ttagggtttt atacctaata aactccttaa aatatttata tatgttattc aaaagcatcc
     1501 aaggaatttt aacctggtgt tcatgttata ttagataatt aaagcagaaa acaaatgaaa
     1561 acattt
//
LOCUS       NM_001005483             972 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily K member 5
            (OR4K5), mRNA.
ACCESSION   NM_001005483
VERSION     NM_001005483.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 972)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000315915.5/ ENSP00000319511.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AB065882.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..972
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..972
                     /gene="OR4K5"
                     /gene_synonym="OR14-16"
                     /note="olfactory receptor family 4 subfamily K member 5"
                     /db_xref="GeneID:79317"
                     /db_xref="HGNC:HGNC:14745"
     CDS             1..972
                     /gene="OR4K5"
                     /gene_synonym="OR14-16"
                     /note="olfactory receptor OR14-16"
                     /codon_start=1
                     /product="olfactory receptor 4K5"
                     /protein_id="NP_001005483.1"
                     /db_xref="CCDS:CCDS32024.1"
                     /db_xref="GeneID:79317"
                     /db_xref="HGNC:HGNC:14745"
                     /translation="MDKSNSSVVSEFVLLGLCSSQKLQLFYFCFFSVLYTVIVLGNLLI
                     ILTVTSDTSLHSPMYFLLGNLSFVDICQASFATPKMIADFLSAHETISFSGCIAQIFFI
                     HLFTGGEMVLLVSMAYDRYVAICKPLYYVVIMSRRTCTVLVMISWAVSLVHTLSQLSFT
                     VNLPFCGPNVVDSFFCDLPRVTKLACLDSYIIEILIVVNSGILSLSTFSLLVSSYIIIL
                     VTVWLKSSAAMAKAFSTLASHIAVVILFFGPCIFIYVWPFTISPLDKFLAIFYTVFTPV
                     LNPIIYTLRNRDMKAAVRKIVNHYLRPRRISEMSLVVRTSFH"
     misc_feature    13..15
                     /gene="OR4K5"
                     /gene_synonym="OR14-16"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGD3.1); glycosylation site"
     misc_feature    76..147
                     /gene="OR4K5"
                     /gene_synonym="OR14-16"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD3.1);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR4K5"
                     /gene_synonym="OR14-16"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD3.1);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR4K5"
                     /gene_synonym="OR14-16"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD3.1);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR4K5"
                     /gene_synonym="OR14-16"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD3.1);
                     transmembrane region"
     misc_feature    586..657
                     /gene="OR4K5"
                     /gene_synonym="OR14-16"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD3.1);
                     transmembrane region"
     misc_feature    706..774
                     /gene="OR4K5"
                     /gene_synonym="OR14-16"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD3.1);
                     transmembrane region"
     misc_feature    808..867
                     /gene="OR4K5"
                     /gene_synonym="OR14-16"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD3.1);
                     transmembrane region"
ORIGIN
        1 atggataagt ccaattcttc agtggtgtct gaatttgtac tgttgggact ctgtagttct
       61 caaaaactcc agcttttcta tttttgtttc ttctctgtgt tgtatacagt cattgtgctg
      121 ggaaatcttc tcattatcct cacagtgact tctgatacca gcctgcactc ccctatgtac
      181 tttctcttgg gaaacctttc ctttgttgac atttgtcagg cttcttttgc tacccctaaa
      241 atgattgcag attttctgag tgcacacgag accatatctt tcagtggctg catagcccaa
      301 attttcttta ttcacctttt tactggaggg gagatggtgc tacttgtttc gatggcctat
      361 gacaggtatg tagccatatg caaaccctta tactatgtgg tcatcatgag ccgaaggaca
      421 tgcactgtct tggtaatgat ctcctgggct gtgagcttgg tgcacacatt aagccagtta
      481 tcatttactg tgaacctgcc tttttgtgga cctaatgtag tagacagctt tttttgtgat
      541 cttcctcgag tcaccaaact tgcctgcctg gactcttaca tcattgaaat actaattgtg
      601 gtcaatagtg gaattctttc cctaagcact ttctctctct tggtcagctc ctacatcatt
      661 attcttgtta cagtttggct caagtcttca gctgcaatgg caaaggcatt ttctacgctg
      721 gcttcccata ttgcagtagt aatattattc tttggacctt gcatcttcat ctatgtgtgg
      781 ccctttacca tctctccttt ggataaattt cttgccatat tttacactgt tttcaccccc
      841 gtcctaaacc ccattattta tacactaagg aatagggata tgaaggctgc cgtaaggaaa
      901 attgtgaacc attacctgag gccaaggaga atttctgaaa tgtcactagt agtgagaact
      961 tcctttcatt aa
//
LOCUS       NM_001005484            2618 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily F member 5
            (OR4F5), mRNA.
ACCESSION   NM_001005484
VERSION     NM_001005484.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2618)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641515.2/ ENSP00000493376.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL627309.15.
            On Aug 4, 2020 this sequence version replaced NM_001005484.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2618
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..2618
                     /gene="OR4F5"
                     /note="olfactory receptor family 4 subfamily F member 5"
                     /db_xref="GeneID:79501"
                     /db_xref="HGNC:HGNC:14825"
     misc_feature    46..48
                     /gene="OR4F5"
                     /note="upstream in-frame stop codon"
     CDS             61..1041
                     /gene="OR4F5"
                     /codon_start=1
                     /product="olfactory receptor 4F5"
                     /protein_id="NP_001005484.2"
                     /db_xref="CCDS:CCDS30547.2"
                     /db_xref="GeneID:79501"
                     /db_xref="HGNC:HGNC:14825"
                     /translation="MKKVTAEAISWNESTSETNNSMVTEFIFLGLSDSQELQTFLFMLF
                     FVFYGGIVFGNLLIVITVVSDSHLHSPMYFLLANLSLIDLSLSSVTAPKMITDFFSQRK
                     VISFKGCLVQIFLLHFFGGSEMVILIAMGFDRYIAICKPLHYTTIMCGNACVGIMAVTW
                     GIGFLHSVSQLAFAVHLLFCGPNEVDSFYCDLPRVIKLACTDTYRLDIMVIANSGVLTV
                     CSFVLLIISYTIILMTIQHRPLDKSSKALSTLTAHITVVLLFFGPCVFIYAWPFPIKSL
                     DKFLAVFYSVITPLLNPIIYTLRNKDMKTAIRQLRKWDAHSSVKF"
ORIGIN
        1 cccagatctc ttcagttttt atgcctcatt ctgtgaaaat tgctgtagtc tcttccagtt
       61 atgaagaagg taactgcaga ggctatttcc tggaatgaat caacgagtga aacgaataac
      121 tctatggtga ctgaattcat ttttctgggt ctctctgatt ctcaggaact ccagaccttc
      181 ctatttatgt tgttttttgt attctatgga ggaatcgtgt ttggaaacct tcttattgtc
      241 ataacagtgg tatctgactc ccaccttcac tctcccatgt acttcctgct agccaacctc
      301 tcactcattg atctgtctct gtcttcagtc acagccccca agatgattac tgactttttc
      361 agccagcgca aagtcatctc tttcaagggc tgccttgttc agatatttct ccttcacttc
      421 tttggtggga gtgagatggt gatcctcata gccatgggct ttgacagata tatagcaata
      481 tgcaagcccc tacactacac tacaattatg tgtggcaacg catgtgtcgg cattatggct
      541 gtcacatggg gaattggctt tctccattcg gtgagccagt tggcgtttgc cgtgcactta
      601 ctcttctgtg gtcccaatga ggtcgatagt ttttattgtg accttcctag ggtaatcaaa
      661 cttgcctgta cagataccta caggctagat attatggtca ttgctaacag tggtgtgctc
      721 actgtgtgtt cttttgttct tctaatcatc tcatacacta tcatcctaat gaccatccag
      781 catcgccctt tagataagtc gtccaaagct ctgtccactt tgactgctca cattacagta
      841 gttcttttgt tctttggacc atgtgtcttt atttatgcct ggccattccc catcaagtca
      901 ttagataaat tccttgctgt attttattct gtgatcaccc ctctcttgaa cccaattata
      961 tacacactga ggaacaaaga catgaagacg gcaataagac agctgagaaa atgggatgca
     1021 cattctagtg taaagtttta gatcttatat aactgtgaga ttaatctcag ataatgacac
     1081 aaaatatagt gaagttggta agttatttag taaagctcat gaaaattgtg ccctccattc
     1141 ccatataatt tagtaattgt ctaggaactt ccacatacat tgcctcaatt tatctttcaa
     1201 caacttgtgt gttatatttt ggaatacaga tacaaagtta ttatgctttc aaaatattct
     1261 tttgctaatt cttagaacaa agaaaggcat aaatatatta gtatttgtgt acacctgttc
     1321 cttcctgtgt gaccctaagt ttagtagaag aaaggagaga aaatatagcc tagcttataa
     1381 atttaaaaaa aaatttattt ggtccatttt gtgaaaaaca taaaaaaaga actgtcacat
     1441 cttaatttaa aaaatatatg cttagtggta aggagatata tgtcaacttt taagaggttg
     1501 aaaaacaaac gcctcccatt ataagtttat acttcacctc ccaccactat aacaacccag
     1561 aatccatgag ggcattatca ggagtgagtg gaagagtaag tttgccaatg tgaaatgtgc
     1621 cttctaggtc ctagacgtct gtggtataac tgctcataag cagtagaaag aatttagagg
     1681 gatccaggct ctcatcacgt tggcacaaag tatattactt ggatccatct atgtcatttt
     1741 ccatggttaa tgtttaaaag cacaggcttt aaagtaaaaa acaaagagct ggattcaact
     1801 ctactgactc ttattaatca tgattttggg cacattacgt agctttcatg agctttagtt
     1861 tctacattta taaacaggag attataccta ttatgcatgg ttattatgaa ggaaaatgac
     1921 aaaatagata taaatcaaat agcccacttc gagacatatt aagcatgaat aaacattaga
     1981 tactattaaa atcctatata ttaacaaagc caaaagtttc aaactttact ttttcccaac
     2041 attcttgtga aatatgacac atcccaatct taacagatgc tcatttggga tactgtactt
     2101 gtgagtggaa gtgtgtatat ttgtgtgcaa gtgtgtactc atatacttcc accttaccac
     2161 cctagaaagg catgatgaaa atttaagata gaaggaaaat ataaattgaa aaaaaaaaac
     2221 cttaacaaat gattctgaca aatatcttct ctttccaggg agaatcactg agccagaata
     2281 aaattgaaca ctaaatattc taagaaaaaa ggaatctagt ttgtcaaaat gtgacttgaa
     2341 ttaatagata aggagagtca gatgataaga gggtcaaaat tatgtttatc ttaggaaaag
     2401 tagaatagaa aatttataag cagattaaaa acacataata aaagtagtaa ataataatga
     2461 cagtatctca aatcagtgca ggggggaaag gcctactaat gtgatggtgg gataattgga
     2521 tagcaatatg ggaaaagata tatttaattt atttgctaca ccaaatgcca ggacaatctc
     2581 taagtgaatt caagacataa ctcttttttc aaaaaaac
//
LOCUS       NM_001005486             975 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily K member 15
            (OR4K15), mRNA.
ACCESSION   NM_001005486
VERSION     NM_001005486.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 975)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC140726.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000305051.6/ ENSP00000304077.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL359218.4.
            On Nov 18, 2020 this sequence version replaced NM_001005486.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The genomic coordinates were based on alignments.
FEATURES             Location/Qualifiers
     source          1..975
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..975
                     /gene="OR4K15"
                     /gene_synonym="OR14-20; OR4K15Q"
                     /note="olfactory receptor family 4 subfamily K member 15"
                     /db_xref="GeneID:81127"
                     /db_xref="HGNC:HGNC:15353"
     CDS             1..975
                     /gene="OR4K15"
                     /gene_synonym="OR14-20; OR4K15Q"
                     /note="olfactory receptor OR14-20"
                     /codon_start=1
                     /product="olfactory receptor 4K15"
                     /protein_id="NP_001005486.2"
                     /db_xref="CCDS:CCDS32026.2"
                     /db_xref="GeneID:81127"
                     /db_xref="HGNC:HGNC:15353"
                     /translation="MNETNHSRVTEFVLLGLSSSRELQPFLFLTFSLLYLAILLGNFLI
                     ILTVTSDSRLHTPMYFLLANLSFIDVCVASFATPKMIADFLVERKTISFDACLAQIFFV
                     HLFTGSEMVLLVSMAYDRYVAICKPLHYMTVMSRRVCVVLVLISWFVGFIHTTSQLAFT
                     VNLPFCGPNKVDSFFCDLPLVTKLACIDTYVVSLLIVADSGFLSLSSFLLLVVSYTVIL
                     VTVRNRSSASMAKARSTLTAHITVVTLFFGPCIFIYVWPFSSYSVDKVLAVFYTIFTLI
                     LNPVIYTLRNKEVKAAMSKLKSRYLKPSQVSVVIRNVLFLETK"
     misc_feature    4..6
                     /gene="OR4K15"
                     /gene_synonym="OR14-20; OR4K15Q"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH41.3); glycosylation site"
     misc_feature    13..15
                     /gene="OR4K15"
                     /gene_synonym="OR14-20; OR4K15Q"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH41.3); glycosylation site"
     misc_feature    76..147
                     /gene="OR4K15"
                     /gene_synonym="OR14-20; OR4K15Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH41.3);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR4K15"
                     /gene_synonym="OR14-20; OR4K15Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH41.3);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR4K15"
                     /gene_synonym="OR14-20; OR4K15Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH41.3);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR4K15"
                     /gene_synonym="OR14-20; OR4K15Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH41.3);
                     transmembrane region"
     misc_feature    586..657
                     /gene="OR4K15"
                     /gene_synonym="OR14-20; OR4K15Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH41.3);
                     transmembrane region"
     misc_feature    706..774
                     /gene="OR4K15"
                     /gene_synonym="OR14-20; OR4K15Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH41.3);
                     transmembrane region"
     misc_feature    808..867
                     /gene="OR4K15"
                     /gene_synonym="OR14-20; OR4K15Q"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH41.3);
                     transmembrane region"
ORIGIN
        1 atgaatgaga caaatcattc tcgggtgaca gaatttgtgt tgctgggact gtctagttca
       61 agggagctcc aacctttctt gtttcttaca ttttcactac tttatctagc aattctgttg
      121 ggcaactttc tcatcatcct cactgtgacc tcagattccc gccttcacac ccccatgtac
      181 tttctgcttg caaacctgtc atttatagac gtatgtgttg cctcttttgc tacccctaaa
      241 atgattgcag actttctggt tgagcgcaag actatttctt ttgatgcctg cctggcccag
      301 attttctttg ttcatctctt cactggcagt gaaatggtgc tcctagtttc catggcctat
      361 gaccgttatg ttgctatatg caaacctctc cactacatga cagtcatgag ccgtcgtgta
      421 tgtgttgtgc tcgtcctcat ttcatggttt gtgggcttca tccatactac cagccagttg
      481 gcattcactg ttaatctgcc attttgtggt cctaataagg tagacagttt tttctgtgac
      541 cttcctctag tgaccaagtt agcctgcata gacacttatg ttgtcagctt actaatagtt
      601 gcagatagtg gctttctttc tctgagttcc tttctcctct tggttgtctc ctacactgta
      661 atacttgtta cagttaggaa tcgctcctct gcaagcatgg cgaaggcccg ctccacattg
      721 actgctcaca tcactgtggt cactttattc tttggaccat gcattttcat ctatgtgtgg
      781 cccttcagca gttactcagt tgacaaagtc cttgctgtat tctacaccat cttcacgctt
      841 attttaaacc ctgtaatcta cacgctaaga aacaaagaag tgaaggcagc tatgtcaaaa
      901 ctgaagagtc ggtatctgaa gcctagtcag gtttctgtag tcataagaaa tgttcttttc
      961 ctagaaacaa agtaa
//
LOCUS       NM_001005487            2568 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 13 subfamily G member 1
            (OR13G1), mRNA.
ACCESSION   NM_001005487
VERSION     NM_001005487.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2568)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2568)
  AUTHORS   Koch W, Hoppmann P, Schomig A and Kastrati A.
  TITLE     Variations of specific non-candidate genes and risk of myocardial
            infarction: a replication study
  JOURNAL   Int J Cardiol 147 (1), 38-41 (2011)
   PUBMED   19709766
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 2568)
  AUTHORS   Yoshida T, Kato K, Fujimaki T, Yokoi K, Oguri M, Watanabe S, Metoki
            N, Yoshida H, Satoh K, Aoyagi Y, Nishigaki Y, Tanaka M, Nozawa Y and
            Yamada Y.
  TITLE     Association of a polymorphism of the apolipoprotein E gene with
            chronic kidney disease in Japanese individuals with metabolic
            syndrome
  JOURNAL   Genomics 93 (3), 221-226 (2009)
   PUBMED   19056482
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 2568)
  AUTHORS   van der Net JB, Janssens AC, Defesche JC, Kastelein JJ, Sijbrands EJ
            and Steyerberg EW.
  TITLE     Usefulness of genetic polymorphisms and conventional risk factors to
            predict coronary heart disease in patients with familial
            hypercholesterolemia
  JOURNAL   Am J Cardiol 103 (3), 375-380 (2009)
   PUBMED   19166692
  REMARK    GeneRIF: Observational study of gene-disease association, gene-gene
            interaction, and gene-environment interaction. (HuGE Navigator)
REFERENCE   5  (bases 1 to 2568)
  AUTHORS   Luke MM, O'Meara ES, Rowland CM, Shiffman D, Bare LA, Arellano AR,
            Longstreth WT Jr, Lumley T, Rice K, Tracy RP, Devlin JJ and Psaty
            BM.
  TITLE     Gene variants associated with ischemic stroke: the cardiovascular
            health study
  JOURNAL   Stroke 40 (2), 363-368 (2009)
   PUBMED   19023099
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2568)
  AUTHORS   van der Net JB, Oosterveer DM, Versmissen J, Defesche JC,
            Yazdanpanah M, Aouizerat BE, Steyerberg EW, Malloy MJ, Pullinger CR,
            Kastelein JJ, Kane JP and Sijbrands EJ.
  TITLE     Replication study of 10 genetic polymorphisms associated with
            coronary heart disease in a specific high-risk population with
            familial hypercholesterolemia
  JOURNAL   Eur Heart J 29 (18), 2195-2201 (2008)
   PUBMED   18599554
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2568)
  AUTHORS   Shiffman D, O'Meara ES, Bare LA, Rowland CM, Louie JZ, Arellano AR,
            Lumley T, Rice K, Iakoubova O, Luke MM, Young BA, Malloy MJ, Kane
            JP, Ellis SG, Tracy RP, Devlin JJ and Psaty BM.
  TITLE     Association of gene variants with incident myocardial infarction in
            the Cardiovascular Health Study
  JOURNAL   Arterioscler Thromb Vasc Biol 28 (1), 173-179 (2008)
   PUBMED   17975119
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2568)
  AUTHORS   Shiffman D, Ellis SG, Rowland CM, Malloy MJ, Luke MM, Iakoubova OA,
            Pullinger CR, Cassano J, Aouizerat BE, Fenwick RG, Reitz RE,
            Catanese JJ, Leong DU, Zellner C, Sninsky JJ, Topol EJ, Devlin JJ
            and Kane JP.
  TITLE     Identification of four gene variants associated with myocardial
            infarction
  JOURNAL   Am J Hum Genet 77 (4), 596-605 (2005)
   PUBMED   16175505
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2568)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642119.1/ ENSP00000493110.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL390860.10.
            On Aug 4, 2020 this sequence version replaced NM_001005487.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2568
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..2568
                     /gene="OR13G1"
                     /gene_synonym="OR1-37"
                     /note="olfactory receptor family 13 subfamily G member 1"
                     /db_xref="GeneID:441933"
                     /db_xref="HGNC:HGNC:14999"
                     /db_xref="MIM:611677"
     misc_feature    228..230
                     /gene="OR13G1"
                     /gene_synonym="OR1-37"
                     /note="upstream in-frame stop codon"
     CDS             339..1262
                     /gene="OR13G1"
                     /gene_synonym="OR1-37"
                     /note="olfactory receptor OR1-37"
                     /codon_start=1
                     /product="olfactory receptor 13G1"
                     /protein_id="NP_001005487.1"
                     /db_xref="CCDS:CCDS31094.1"
                     /db_xref="GeneID:441933"
                     /db_xref="HGNC:HGNC:14999"
                     /db_xref="MIM:611677"
                     /translation="MNHSVVTEFIILGLTKKPELQGIIFLFFLIVYLVAFLGNMLIIIA
                     KIYNNTLHTPMYVFLLTLAVVDIICTTSIIPKMLGTMLTSENTISYAGCMSQLFLFTWS
                     LGAEMVLFTTMAYDRYVAICFPLHYSTIMNHHMCVALLSMVMAIAVTNSWVHTALIMRL
                     TFCGPNTIDHFFCEIPPLLALSCSPVRINEVMVYVADITLAIGDFILTCISYGFIIVAI
                     LRIRTVEGKRKAFSTCSSHLTVVTLYYSPVIYTYIRPASSYTFERDKVVAALYTLVTPT
                     LNPMVYSFQNREMQAGIRKVFAFLKH"
     misc_feature    342..344
                     /gene="OR13G1"
                     /gene_synonym="OR1-37"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGZ3.1); glycosylation site"
     misc_feature    405..467
                     /gene="OR13G1"
                     /gene_synonym="OR1-37"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ3.1);
                     transmembrane region"
     misc_feature    492..554
                     /gene="OR13G1"
                     /gene_synonym="OR1-37"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ3.1);
                     transmembrane region"
     misc_feature    627..689
                     /gene="OR13G1"
                     /gene_synonym="OR1-37"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ3.1);
                     transmembrane region"
     misc_feature    747..809
                     /gene="OR13G1"
                     /gene_synonym="OR1-37"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ3.1);
                     transmembrane region"
     misc_feature    921..980
                     /gene="OR13G1"
                     /gene_synonym="OR1-37"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ3.1);
                     transmembrane region"
     misc_feature    1041..1103
                     /gene="OR13G1"
                     /gene_synonym="OR1-37"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ3.1);
                     transmembrane region"
     misc_feature    1143..1205
                     /gene="OR13G1"
                     /gene_synonym="OR1-37"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ3.1);
                     transmembrane region"
ORIGIN
        1 tttgatagca aactggcaag agctactgta cttttagttt tttacagtga tttaatacag
       61 gtcaccattt gaacatgaca atactctgca aaaaactaca tttgagtcat caatggagga
      121 acatacatca gagaatggga ttagtctgga aaacagagta tattgcctgg aatacagaac
      181 tccatcaaat gggaattcct gctgcaaagt tgtgtccaat caagaattaa gtccctaagt
      241 acacacactc ctcatgttat ctcctaacaa cacagggatt ctttccattt tcagttgttt
      301 attctgtgca attactgcca ttcaatcacc caagcaggat gaatcacagc gttgtaactg
      361 agttcattat tctgggcctc accaaaaagc ctgaactcca gggaattatc ttcctctttt
      421 ttctcattgt ctatcttgtg gcttttctcg gcaacatgct catcatcatt gccaaaatct
      481 ataacaacac cttgcatacg cccatgtatg ttttccttct gacactggct gttgtggaca
      541 tcatctgcac aacaagcatc ataccgaaga tgctggggac catgctaaca tcagaaaata
      601 ccatttcata tgcaggctgc atgtcccagc tcttcttgtt cacatggtct ctgggagctg
      661 agatggttct cttcaccacc atggcctatg accgctatgt ggccatttgt ttccctcttc
      721 attacagtac tattatgaac caccatatgt gtgtagcctt gctcagcatg gtcatggcta
      781 ttgcagtcac caattcctgg gtgcacacag ctcttatcat gaggttgact ttctgtgggc
      841 caaacaccat tgaccacttc ttctgtgaga tacccccatt gctggctttg tcctgtagcc
      901 ctgtaagaat caatgaggtg atggtgtatg ttgctgatat taccctggcc ataggggact
      961 ttattcttac ctgcatctcc tatggtttta tcattgttgc tattctccgt atccgcacag
     1021 tagaaggcaa gaggaaggcc ttctcaacat gctcatctca tctcacagtg gtgacccttt
     1081 actattctcc tgtaatctac acctatatcc gccctgcttc cagctataca tttgaaagag
     1141 acaaggtggt agctgcactc tatactcttg tgactcccac attaaacccg atggtgtaca
     1201 gcttccagaa tagggagatg caggcaggaa ttaggaaggt gtttgcattt ctgaaacact
     1261 agtagtttca acatgcaaca tcacttctgt actccagaac catcttctag agcatctcag
     1321 attttactgg tttttcatac ttacctccac tccaattttc ccttccctct tattcctgcc
     1381 ttcttcctag cagtctcatt gtctccaaaa ttctgtactc tttatgtgaa gaatattcat
     1441 aaagcaatat gcacaatacc ctcacataaa tatatgtcat aatatatatt ccaacatttt
     1501 ccaaaaatat gtacataact tcgaatactt atatatgcat atacacaaat atttacctat
     1561 atgtgcatgt gcacatcata catgcaaata tcacaaaaca ttttgtgtat tttgtgccat
     1621 ttatttgttg gtatgtgaat gtgagctgga gagaagtagt gtgtgtgata aattttccct
     1681 tgcttaatag gctgggttca ttcacttaca gcattgtgat aatgaggtat ctactctggg
     1741 gttgaacctc attacgttat ttagatttca ttggagaaaa atcgtgctct actgaataaa
     1801 attattgggc aaactctaaa gtctccatgt gttcaggaaa aagtgacaga atattactcc
     1861 agtcctttta aaccagtgag tacacttatg cctcatgcaa cattagtctg acattaggca
     1921 ggcagtcaat agtgtgtatg gcggttcaat gggtccatca atgaaacagg caccttcagt
     1981 catcttgttc tgcccttcaa tattgttttc cctaggatca tgaatggctt ttgtattact
     2041 aggcgtctca tccataaccc aagtagaatg aaggctaagg acagagattt catgaggcaa
     2101 atgaagcact gcctattatt tttataagga taacccagta agtataagct acatctcatt
     2161 ggctatagct atattattac accatttcaa gttgtaagta ccaattggaa gagtatattc
     2221 taaaattagg cacttggcac ccctgaaaaa atttggatgt aacatagatg ggatgagaaa
     2281 tgggtgtcta tactatggca gttgctatga gtatctacta gcaaatgtat cataaatgca
     2341 gatttgaagt cacaaactaa atcatgaaat aaagttaggt tgagagagtg agaatgccaa
     2401 aactgaggct acataataaa aatatacaat atacaacaca tcttataaca agttggaaga
     2461 aatatatcat ttgctgtgat tagtaaagca tatttttaca atatatttcc acaattatga
     2521 aaacatgttg gaattttgtc ttacaaatac atctggagca gttgtgtc
//
LOCUS       NM_001005489             946 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily B member 17
            (OR5B17), mRNA.
ACCESSION   NM_001005489
VERSION     NM_001005489.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 946)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357377.3/ ENSP00000349945.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000435.5.
            On May 17, 2019 this sequence version replaced NM_001005489.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..946
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..946
                     /gene="OR5B17"
                     /gene_synonym="OR11-237; OR5B20P"
                     /note="olfactory receptor family 5 subfamily B member 17"
                     /db_xref="GeneID:219965"
                     /db_xref="HGNC:HGNC:15267"
     CDS             1..945
                     /gene="OR5B17"
                     /gene_synonym="OR11-237; OR5B20P"
                     /note="olfactory receptor, family 5, subfamily B, member 20
                     pseudogene; olfactory receptor OR11-237; olfactory receptor
                     5B20"
                     /codon_start=1
                     /product="olfactory receptor 5B17"
                     /protein_id="NP_001005489.1"
                     /db_xref="CCDS:CCDS31548.1"
                     /db_xref="GeneID:219965"
                     /db_xref="HGNC:HGNC:15267"
                     /translation="MENNTEVSEFILLGLTNAPELQVPLFIMFTLIYLITLTGNLGMII
                     LILLDSHLHTPMYFFLSNLSLAGIGYSSAVTPKVLTGLLIEDKAISYSACAAQMFFCAV
                     FATVENYLLSSMAYDRYAAVCNPLHYTTTMTTRVCACLAIGCYVIGFLNASIQIGDTFR
                     LSFCMSNVIHHFFCDKPAVITLTCSEKHISELILVLISSFNVFFALLVTLISYLFILIT
                     ILKRHTGKGYQKPLSTCGSHLIAIFLFYITVIIMYIRPSSSHSMDTDKIASVFYTMIIP
                     MLSPIVYTLRNKDVKNAFMKVVEKAKYSLDSVF"
     misc_feature    7..9
                     /gene="OR5B17"
                     /gene_synonym="OR11-237; OR5B20P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGF7.1); glycosylation site"
     misc_feature    70..132
                     /gene="OR5B17"
                     /gene_synonym="OR11-237; OR5B20P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF7.1);
                     transmembrane region"
     misc_feature    157..219
                     /gene="OR5B17"
                     /gene_synonym="OR11-237; OR5B20P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF7.1);
                     transmembrane region"
     misc_feature    292..354
                     /gene="OR5B17"
                     /gene_synonym="OR11-237; OR5B20P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF7.1);
                     transmembrane region"
     misc_feature    412..474
                     /gene="OR5B17"
                     /gene_synonym="OR11-237; OR5B20P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF7.1);
                     transmembrane region"
     misc_feature    583..645
                     /gene="OR5B17"
                     /gene_synonym="OR11-237; OR5B20P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF7.1);
                     transmembrane region"
     misc_feature    706..768
                     /gene="OR5B17"
                     /gene_synonym="OR11-237; OR5B20P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF7.1);
                     transmembrane region"
     misc_feature    808..870
                     /gene="OR5B17"
                     /gene_synonym="OR11-237; OR5B20P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGF7.1);
                     transmembrane region"
ORIGIN
        1 atggagaata atacagaggt gagtgaattc atcctgcttg gtctaaccaa tgccccagaa
       61 ctacaggttc ccctctttat catgtttacc ctcatctacc tcatcactct gactgggaac
      121 ctggggatga tcatattaat cctgctggac tctcatctcc acactcccat gtactttttt
      181 ctcagtaacc tgtctcttgc aggcattggt tactcctcag ctgtcactcc aaaggtttta
      241 actgggttgc ttatagaaga caaagccatc tcctacagtg cctgtgctgc tcagatgttc
      301 ttttgtgcag tctttgccac tgtggaaaat tacctcttgt cctcaatggc ctatgaccgc
      361 tacgcagcag tgtgtaaccc cctacattat accaccacca tgacaacacg tgtgtgtgct
      421 tgtctggcta taggctgtta tgtcattggt tttctgaatg cttctatcca aattggagat
      481 acatttcgcc tctctttctg catgtccaat gtgattcatc actttttctg tgacaaacca
      541 gcagtcatta ctctgacctg ctctgagaaa cacattagtg agttgattct tgttcttata
      601 tcaagtttta atgtcttttt tgcacttctt gttaccttga tttcctatct gttcatattg
      661 atcaccattc ttaagaggca cacaggtaag ggataccaga agcctttatc tacctgtggt
      721 tctcacctca ttgccatttt cttattttat ataactgtca tcatcatgta catacgacca
      781 agttccagtc attccatgga cacagacaaa attgcatctg tgttctacac tatgatcatc
      841 cccatgctca gtcctatagt ctataccctg aggaacaaag acgtgaagaa tgcattcatg
      901 aaggttgttg agaaggcaaa atattctcta gattcagtct tttaat
//
LOCUS       NM_001005490            9556 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily C member 74
            (OR6C74), mRNA.
ACCESSION   NM_001005490
VERSION     NM_001005490.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9556)
  AUTHORS   Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and
            Mollon JD.
  TITLE     Variants in the 1q21 risk region are associated with a visual
            endophenotype of autism and schizophrenia
  JOURNAL   Genes Brain Behav 13 (2), 144-151 (2014)
   PUBMED   24152035
REFERENCE   2  (bases 1 to 9556)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000343399.5/ ENSP00000368987.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC122684.3.
            On Dec 16, 2020 this sequence version replaced NM_001005490.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..9556
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..9556
                     /gene="OR6C74"
                     /note="olfactory receptor family 6 subfamily C member 74"
                     /db_xref="GeneID:254783"
                     /db_xref="HGNC:HGNC:31303"
     misc_feature    207..209
                     /gene="OR6C74"
                     /note="upstream in-frame stop codon"
     CDS             219..1157
                     /gene="OR6C74"
                     /codon_start=1
                     /product="olfactory receptor 6C74"
                     /protein_id="NP_001005490.1"
                     /db_xref="CCDS:CCDS31816.1"
                     /db_xref="GeneID:254783"
                     /db_xref="HGNC:HGNC:31303"
                     /translation="MRNHTTVANFILLGLTDDPQLQVIIFLLLFFTYMLSITGNLTIIT
                     LTLLDLHLKTPMYFFLRNFSFLEVSFTTVYIPKFLVSMATGDKTISYNDCAAQLFFTIL
                     LGATEFFLLAAMSYERYVAICKPLHYTTIMSSRVCSLLVFASWMAGFLIIFPPLLMGLQ
                     LDFCAANTVDHFFCDVSPILQLSCTDTDIIELMMLLSAILTLLVTLVLVILSYTNIIRT
                     ILKIPSSQQRKKAFSTCSSHMVVVSISYGSCIFMYVKPSAKERVSLNKGIALLSTSVAP
                     MLNPFIYTLRNKQVKDVFKHTVKKIELFSMK"
     misc_feature    225..227
                     /gene="OR6C74"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NCV1.1); glycosylation site"
     misc_feature    288..350
                     /gene="OR6C74"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NCV1.1);
                     transmembrane region"
     misc_feature    408..470
                     /gene="OR6C74"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NCV1.1);
                     transmembrane region"
     misc_feature    504..566
                     /gene="OR6C74"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NCV1.1);
                     transmembrane region"
     misc_feature    639..701
                     /gene="OR6C74"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NCV1.1);
                     transmembrane region"
     misc_feature    801..863
                     /gene="OR6C74"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NCV1.1);
                     transmembrane region"
     misc_feature    930..992
                     /gene="OR6C74"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NCV1.1);
                     transmembrane region"
     misc_feature    1026..1088
                     /gene="OR6C74"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NCV1.1);
                     transmembrane region"
ORIGIN
        1 ctcgtataga ctagaaacac ctcagcgtga acaacaagct agaaaccttc tctttgttct
       61 tcttctctct agattatata tacacatata tgtatatata gaagagatat gataaacata
      121 gaggtagata tatgctccaa atttaattta atacaacata aatcagagaa catcttatta
      181 ataaaaatca tgagaagaaa tgaacctaga aatcaactat gagaaaccat acaacagtag
      241 caaactttat tcttcttgga ctgacagatg atccacaatt acaggtgatt atttttcttc
      301 tccttttttt cacctacatg ttgagcatca ctgggaatct aaccatcatc actctcaccc
      361 tactggattt gcatctcaag acacccatgt atttcttcct ccgaaatttc tcatttttag
      421 aagtctcatt cacaactgtc tacattccca aatttcttgt tagtatggca acaggtgata
      481 agaccatttc ttacaacgat tgtgcagcac agctgttttt cactattctc ttgggggcaa
      541 ctgaattttt tcttctggct gccatgtcct atgagcgcta tgtggccatc tgcaaacccc
      601 tgcattacac caccatcatg agcagcagag tttgcagctt gctggtcttt gcttcatgga
      661 tggctggctt cctaataatt tttccgccac tcctgatggg tctccagctt gatttctgtg
      721 cagccaacac tgtagatcat ttcttctgtg atgtttctcc tatactgcag ctctcttgca
      781 cagacactga cataatagaa ttaatgatgc ttctctcagc cattttgacg ctcctggtta
      841 cactggtatt agtgattctc tcctacacaa atattatcag gactattctg aaaatacctt
      901 cttctcaaca gagaaaaaaa gcattttcta catgttcttc ccacatggtg gtcgtgtcca
      961 tttcttatgg cagctgcatc ttcatgtatg tgaaaccctc agcaaaagaa agagtgtcat
     1021 taaataaagg gatagctctg ctcagcactt ctgttgcccc catgttgaat ccctttattt
     1081 atacactgag aaacaaacaa gtaaaagatg tttttaagca cacagtcaaa aagattgaac
     1141 ttttctcaat gaaatgaatc actttaacga tattattaag gttattagta aaataaaaca
     1201 agaagagtgg agtatgtgca aagtttttca atgtttgtat tcaataatat tacctctttt
     1261 ttgacttata attttcatta tggccttcct aatctccaaa gcctaacctt cactgccatt
     1321 tctccctcat gctgagatca catagaaaag atatttcttg gttttggtca aaatcatttg
     1381 cctgttattt attgcctctt ttatttcctc tcaaaattct ctcagaggaa gacaaagtga
     1441 gacttcagtt tttccatgct cttttccact cttctggaat tcaaggaccc aatttgtcat
     1501 atattctaca tagagttcag tagactacct aggtttgatc acttaacgcg tgcattattg
     1561 gtggatacaa aagtgaaatc tgctttcttt cttagtgttt agtagaatct cgaagcaaat
     1621 caatttaatg gcatttcttt aattacacag tttaatagct tcaatttttt ttaaccaggc
     1681 ttagagatat agtatactct cagaaataaa tgaaagaaac ttcagagagg ttaaagcatt
     1741 actgctattg cagctatcat atagaactta cagctagcat ttattgattg cttacaatgt
     1801 gccagatgtt attaaattta ttagttccat cttcaaaact ctgtaagaca ggtatttata
     1861 tgctccattt atggattaaa aatataagtc ataaggatta aataatttgt tgatgacaac
     1921 aaaaataaat acccaaggat gacaaaaatg atgccttcat gtccactcac cgcttacaca
     1981 tttttagcaa aacgaagtga aaatctctct ctgctcttaa gtcacttaga atgcaaaaga
     2041 acagtaagac ctttgtagaa cattctatag atttatggat gtcatagata aaattaagac
     2101 cttacagctc cacagagtac cttatttttc aaattaagtg gtttgaacat taaaattaga
     2161 tataatgact gatcatgtgc agagtattta aaaacttttc ctttcaatag taccctatct
     2221 cagtgttata agacaagaaa actttttctg aaagactaat gtcagtttcc tcaagaaata
     2281 tttgtctatg atttagtttc cacataaggt aactgataac cttatgaata attctgactg
     2341 gaaggattta tttttctgac ttataaaatt attatataca ttttatctta atgtatttcc
     2401 aagtgtatat aactttgtca tatccccagg ctagcaagaa attttatttg aattttacaa
     2461 gcattagtga gaagctttaa atatatatat atctaaataa atattaacag ggcactgaga
     2521 agctgagaag attcaaatag acttttcaat agtggtcatg tatgtgtaaa tggtttttat
     2581 aatactgcaa tactttaaga acattttatt tgaaaataga aaataaatat ctagggagta
     2641 ttctttaact ttcactattt ggctttcttt gcatcaggaa tttaagtttt tttttattat
     2701 tatactttaa gttctagggt acatgtgcac aacgtgcagg tttgttaaca tatgtataca
     2761 tgtgccatgt tggtgtgctg cacccattaa cttgtcattt acattaggta tatctcctaa
     2821 tgctatccct cccctctccc cccacctcac agcaggcccc ggtgtgtgat gttcgccttc
     2881 ctgtgtccag gtgttcttat tgttcaattc ccacctatga gtgacaacat gcggtgtttg
     2941 gttttttgtc cttgcgatag cttgctgaga atgatggttt atacacaaat aattatactt
     3001 tatagataat aacgacactc aagaaaagtt gactcaaaat gtttggaatc tgacaaaaag
     3061 tctgatctgg aatatctcag attttcttct gaacactctt ctccacaatt taagttgttg
     3121 ccaaatgcaa atatgtaaca tatttatttt atatttctaa gtattacatt gcttactttt
     3181 aaaacttatt ctttatacat gaactctaag ctcagctctt tttaaagtct aatatatagg
     3241 taaatccata aatcattgaa tgtatattaa aaactttttc tccccttttt taatccaaaa
     3301 atgaattatt gacaattttg tgaaattcag aaatatactt agtagactta actacttaga
     3361 atagatggat ttttttctat ttctaggttg tttgtaagta gataacagaa aaagcaaaag
     3421 gaaagaaacc ctaggcctaa gttacgatgg gaaaagatta gtgaagatca ttttttactt
     3481 aatttgaaat aaatcactag caatctgatt tattgtgtaa ataccagaga tcagggtcca
     3541 ttataggcac ttaaaatttt taaattgtgc taggattcta aaaaatatta aaatctcatt
     3601 tgttcacctg tttaactcat ttctaatatt catttttctg gaagtgaaaa ggaaaaaaat
     3661 aaccaactgt ttttcaccag tattaggttg gcgcaaaagg aattgcagtt tcaccattaa
     3721 aagtaattaa aatttcacca ttaaaattta atttcaccac taaaagtaat ggtgaaatca
     3781 caattccttt tgtaccaacc taatatatac tgagtaagta ttaagacaag ctagactcaa
     3841 ggtatgtcaa ttgtctatta catagccttc ctgcctttga tctctaactc atcctccaca
     3901 ttgctagtag gatactttct aaaatacaaa tcagtcatgc caccactcta ctaatacatt
     3961 attgatggtt ctccgttgcc tgcaaaataa tgacaaaatt ccccaaatat ttgcataacc
     4021 tggcctgtcc agtttggttt cttatctctt ccaactagta cttctatgat gtaaccacac
     4081 taaacaacta agtatattgc aaaacttgtg tgctgtcacg tatattgaat gcctgcccat
     4141 tgcccaaatc tctgttagct tgcaaaactt caatcagtta aagttaatta acatggagac
     4201 ttctgtggaa ggctggtcga caagtatatg ttagtcactt catactcaaa ttttgtagtg
     4261 tttgtagtca actctagatg gtgcttatca tagcacatgt aattaactat atttatttct
     4321 tgcaacgaac tctaaatctc atagttttct acattctctt catccaagcc ggtgcctagt
     4381 aaggaataaa taaaataaat aaggcagcaa atgacaggag atgagtgaag ttaatatgtt
     4441 catctataaa ataagattaa aatgtggcat ttgatagggc ttaatataaa aatgtaagcc
     4501 tagattaagg atgtctacta taaaataatt aatagattgg acttgatgac aggcaatatg
     4561 aaaaaaaaat taggtgttag aaaactacaa gtttactata aatatggagt gtttatgagc
     4621 attgaagaga taattcaatt gtatgataca ataaagtccc attgtatcat acatatctca
     4681 aaaattctgt ttagttttat cctttaaaaa tcttttgaag taaaagaata gtcaatatta
     4741 tcataaattt agaaattatg tcatatgaga aaatatttag ggtactaatg acatggagct
     4801 tgagaaaaaa ttgcttataa gaaaaataaa tgctaccttc aaatattaag attactgtgt
     4861 tctcaaaaat tatggacttg cttttctttt tataagtgta agtgtgcaac tggtgtttat
     4921 caaacattca attagtaaat atatgtatat ttttcatggt acatgcacat ttatcagttt
     4981 ataatttata tataaacaat agtataaaat attttgaaat tttaatagaa aaataggaat
     5041 taataaagga aattatacaa aatgatcaat atattttaat aatataactt tacagtataa
     5101 cttttaattt tacttatggt acaaatatta gtttcatttt aattcagcat actttattat
     5161 acttgcaaat acttatgtaa ttattgtgtg aaatgaactg caagtcttat tacagtttat
     5221 tttaccttgt acttagttat gtgggttgtt gtagtgcaaa gttaatgctt cacaataatg
     5281 tggatccatt ttaaatgaac tggaaatcac aataattatt cttcaatccc attcaaatat
     5341 gctttttttt ttgaaattga ctacattaat gttaatcagc tgtcttgatt ttgcattttt
     5401 atgtaatttt ctaaaagcac acaaatgttt taaaatatta aaatgattat gttttcaagt
     5461 tttctaatga gtagatgagt atttttatat ttaatgagtt taaataattt ccagtaacaa
     5521 aaatcgtgga aagaatttca aacagtcaat ttccaaattt ctcttttaat tcaactttct
     5581 tttgataatg ggttactttt tcccatattt ttaaaacacc atctgttttg gaacagagta
     5641 agggggtgat atcttcaaga aaacatatta ctgatggaga cctgttgtca tagggaaggg
     5701 aaaactaggc tatgtctact tataaaataa aattccataa ttctcttcaa tgtgtctttt
     5761 aaaatacttt acataagaaa ttctgattct gtatctgata caagttttta aattattact
     5821 tagcatatca tcatacattt ctgatttgct tctcttcctt ttttttcttc tccacctccc
     5881 cttccttctc ctttctcttc taacaaccct ttaaaaatgt aaaatacatc tcaggatctc
     5941 aggtggaagt ctgtaccaaa acaatccttg gcctgtgggc tatggtttgc tggcctgtgg
     6001 aataaatgat ggcaaagggc tagagtacaa aggtatacca ttttatttgc aggttgtgcc
     6061 aataaattct tgtattatct attaatccat aaacattcat tcccaaaatc aataactgga
     6121 tatttagtgc cagaattatt tttgatttat tctagtaaat gggccataac tgaaaagaca
     6181 gttgcaattg aatttactac ctaatttaac ttatgggttc attatcatct gctaaaattt
     6241 atctgtgtta ggagaggcag acagttgagt tcaatgggta tgtggattaa gtcaccactc
     6301 ctgcatcttt gttttttaag tctttgatgg tggcactagc tttgaagctt ttccaaggat
     6361 ataatgatgc tgtctgttta ttatctctta gtgagggaga ccatatggtt ttccacttgg
     6421 ccctgaatat atgtgtttta actgtatgca caggacaact ttgcacatgc actaggttca
     6481 ctgtaaaaca gactagcaca taatcataac ttatcaggaa aatgtctctg actccaattt
     6541 cttccactct tataagtaaa cacactggca ttttatagtc attgtaatta agcttagctc
     6601 agaaatgagg tggaataacc tctgaaaaat ccatgtttca ttgatttcac tgtacgattt
     6661 tcttgggaaa ggaccacata tctattgaag gacactagcg gaagatttgg atattaatat
     6721 gcatgacagt tttgcaaaga caactttctt catgggttct ggttctatga aaggattgaa
     6781 gtctgtaatt gaataaggag ctttaactcc attatgatgg ctaattcatt cttcctttca
     6841 cttatcctag agttctttca attatatgga ccagttagaa acctaatgag ctgcctgttt
     6901 attttagtcc taggaacttc ataatctgtt gttcactact aaagtgcatc atgcaatatt
     6961 gataactact tcggccatac tgaccaataa gtaaccacac tgaatatgct catatcagtt
     7021 aagtgctatt acatagcctc tgactttcca tgatccatca tgtccactga aatcagggag
     7081 ttcattttaa caaaagcatc ttccatcttc atttcaaacc agtggttaca atacttttta
     7141 aagctgctag caaataccct tgtgaatatt ttaatatctt gccaaaagat tttcctctgg
     7201 gtattctcca gttacatagc taaggggtat gtaagtaaat tgcatacaat aaagctgttc
     7261 catattgcaa ttcctctaag ttttagattt atatttacat atatgaaata catacacaca
     7321 tatatgtaat tcccagttgg gatcctttca gatttccaat caattaactt tcacaaaaga
     7381 tatctgggaa ggatgtaaat ttaaccaata ttgctgtata ataaactgcg agatcagagc
     7441 ctacctttgt tttcagcacc aagtgacatg aggatttaag agataaattt atttaggaca
     7501 gtcatgggaa cttcatgatt tgctgattat tgtataattc aagataataa ttaaaggata
     7561 caaccttgta attttctttc tttaagatcc tcaatatgga tcttaccatg ttatagcctt
     7621 atagcatgtg cagtacttgt atttcacatg cttagcacag tgctctttac cttatacatc
     7681 tactttgaga aagctcagcc ttaaatataa gcttctttcc aagtgataat atttgatgcc
     7741 atagacttgt aatattccat tttcttatgg ttgcagcact tctcagacct ttcaagatga
     7801 tattaactaa ttataaatta cccttcttaa ggatctattt catgcaacca cttgtagtac
     7861 caaatatatc agttatcact gttaggttgc aattctccat ggcatttcta cacatttaat
     7921 attatgcttg gtctggattt ttttttacaa agttgtttta atatcattca gccttgaaag
     7981 atcgaaataa tacctccctc cagggcagaa gggagatttg cttcctgact aggattataa
     8041 aatagatgtc tcccagggtg gccaggttgg gcaggttttc tagctatctc tttaaaatag
     8101 tgggggttcc ctaagttcag gatttcacag ttgtgttaca gactgattgt gtctgctcta
     8161 cccatggagc cccctctgca ttgcaccccc tggggactgg gaggcaaagg gaacgaggaa
     8221 acaacagatg ttggtgagga tgtggagaag taggaacact tttacactgt tggtgggagt
     8281 ataaattagt tcaaccattg tggaagacag tgtggtgatt cctcaaggat ctagaactag
     8341 aaataccatt tgacccagca atcccattac tgggtatata cccaaaggat tataaatcat
     8401 tctactataa agacacatgc acacatatgt ttattgtggc actattagca atagcaaaga
     8461 cttggaacca acccaaatgc ccatcaatga taggttggat aaagaaaatg tggtacatat
     8521 acaccatgga acactataaa atatacatcc ataaaaaacg atgagttcat atcctttgca
     8581 gggacatgga tgatgctgga aactatcatt ctcagcaaac taacacaaga acagaaaacc
     8641 aaacaccgca tgttctcact cataagtggg agttgaacaa tgacagagaa gaattttaaa
     8701 tgcatatttc tcaatgaaac taggcagact taaaaggcta taaattattt aatttcattt
     8761 atataatatt ctggtagaga taaatttata gagaaagtaa catatcagtg gttgccagga
     8821 ctttgttgga gtaaggatta aacgaggaag catagggaat ctttggttag ggtagtaaaa
     8881 ttattctata tagtaatgta aagatgaata cataatgtag ggagaccccc tgaaactatt
     8941 gctatggaat aaaaggtgaa atgctcctga ttattgtaaa tacaaaattg catgcaggat
     9001 tgtgtaaaga caatgccagg ttggactgcc agaatgagcc aacagcacat gatgtgcttc
     9061 cccctgcaga gagcctacga acggacatgc agtcagggag gtttcacatc accaagattc
     9121 ctgtcccaga aaagcagatg ttcatagctc tgggaatgga atgggaccct tgtgtagagc
     9181 ctataaatgg acgcattggg ggggcacctg ttcatatgga taagataggg ctataaacgc
     9241 cctcatcttg ccacagctct tctaggcctc tttgggggta aggcatactc ccttctgata
     9301 ttttccggtc taaccggttg tctagcttca cctcctgttt ctatggattg tttgtaacca
     9361 gcttttgctg caactgttac tgctgattaa taacttgcta atcataggtt atggaaagac
     9421 tgtgtttctg ttttaaggct ctgttagaaa ttactgatgc acacactata ttgtaaactc
     9481 ttatctctgt atactgtact tctgcataca gatgttatgt taaagaacta cttcatcccc
     9541 atgtgaccat ctcacc
//
LOCUS       NM_001005491            2807 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 10 subfamily AG member 1
            (OR10AG1), mRNA.
ACCESSION   NM_001005491
VERSION     NM_001005491.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2807)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2807)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641071.2/ ENSP00000493281.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003033.2.
            On Nov 17, 2020 this sequence version replaced NM_001005491.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..2807
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..2807
                     /gene="OR10AG1"
                     /gene_synonym="OR11-160"
                     /note="olfactory receptor family 10 subfamily AG member 1"
                     /db_xref="GeneID:282770"
                     /db_xref="HGNC:HGNC:19607"
     misc_feature    15..17
                     /gene="OR10AG1"
                     /gene_synonym="OR11-160"
                     /note="upstream in-frame stop codon"
     CDS             39..1004
                     /gene="OR10AG1"
                     /gene_synonym="OR11-160"
                     /note="olfactory receptor OR11-160"
                     /codon_start=1
                     /product="olfactory receptor 10AG1"
                     /protein_id="NP_001005491.2"
                     /db_xref="CCDS:CCDS31514.2"
                     /db_xref="GeneID:282770"
                     /db_xref="HGNC:HGNC:19607"
                     /translation="MQIPKDGEQTKREKSNVTTIMEFVLLGFSDIPNLHWMLFSIFLLM
                     YLMILMCNGIIILLIKIHPALQTPMYFFLSNFSLLEICYVTIIIPRMLMDIWTQKGNIS
                     LFACATQMCFFLMLGGTECLLLTVMAYDRYVAICKPLQYPLVMNHKVCIQLIIASWTIT
                     IPVVIGETCQIFLLPFCGTNTINHFFCDIPPILKLACGNIFVNEITVHVVAVVFITVPF
                     LLIVVSYGKIISNILKLSSARGKAKAFSTCSSHLIVVILFFGAGTITYLQPKPHQFQRM
                     GKLISLFYTILIPTLNPIIYTLRNKDIMVALRKLLAKLLT"
ORIGIN
        1 gaaaaggaag agcttaaaaa gtctgtacag acagcttcat gcaaatccct aaagatggag
       61 agcaaactaa aagagaaaaa tcaaatgtga ctacaataat ggaatttgtt cttttggggt
      121 tttctgatat tcccaatctc cactggatgc tttttagtat atttttactt atgtatttga
      181 tgatcctgat gtgcaatggc atcataatac tactaataaa aattcacccc gctctccaga
      241 ctcccatgta tttttttctt agcaattttt cccttttgga aatctgttat gtaacaatca
      301 ttatcccaag aatgctcatg gacatttgga ctcagaaagg aaatatttct ttgtttgctt
      361 gtgctacaca aatgtgtttt tttcttatgc ttggaggcac ggagtgtctc cttctgacag
      421 tgatggccta tgaccgctac gtggctattt gtaagccttt gcagtatcct ctagtgatga
      481 accacaaagt ctgcattcag ctgataatag cttcctggac catcacaatt cctgtagtaa
      541 ttggggaaac atgccaaatt ttccttttgc ccttttgcgg aactaacaca attaatcatt
      601 tcttttgtga catcccgcca atactcaagc ttgcttgtgg aaacatattt gtgaatgaga
      661 taacagtcca tgtagtagcg gtggtgttta tcacggtgcc atttctgttg attgttgtct
      721 cttatggcaa aattatctcc aacattttga aattgtcatc agccagagga aaggctaaag
      781 ccttctccac ctgctcatct cacctaatag ttgtaatctt attctttgga gcaggtacta
      841 tcacttattt acagcccaaa ccacatcagt ttcaaaggat ggggaaactg atttctcttt
      901 tctacaccat tctgattcca actttgaatc ctattatata taccctgagg aacaaagata
      961 tcatggtggc attgagaaaa ttactagcta agttattaac atgagatgaa gacttgaaat
     1021 tacagaaata atttctttat aggtttgtca tgtggcttca gtgaattttt ttttaacttt
     1081 gtccctatgg tattcaataa tgagtactga aatttaaata caaacttaca ttatgtcaag
     1141 gggtgtttta ttcacagaat atagttatgt gctactgtgc agttggagca caatttaact
     1201 aaggtgccaa gatctcattc tgaagatcaa tggttaactg ttgattaaga gaccacctga
     1261 gcaataaaat gaaaaataac tgagtgagtc atataattag gggttaggat caggctctgt
     1321 aatacatctt ctttcacctt cccattcctt cagatgtatt taccaccttt ctctgaccct
     1381 tgggtttgga tttaactgat tagaaacacc aaaaatagct aagatggtgg aaacaaagga
     1441 tatgggattt tctttgcatt ttaccctact tgtttctcat atctttgtcc atatattttt
     1501 aaatctaaat atcctgagaa tgtttattcc tctaactgcc tacatcttac tcgtctctga
     1561 taacatattt tctttccttg tagcttcagg tcttgctttg ttaatattta gttttcatcc
     1621 taaactagcc ttacctatgt gtgttgggtt gaatgttgga ccctcaaaat agaaatctcc
     1681 aactagaacc ttcaaattta atcttattta gaaaaacaaa gactttcagc tatagtgaag
     1741 ctaaagattg taaatgaaag taccatgatt taggttgcac atgaagtcca acgacaagtg
     1801 ttattataaa agacaaagag gcagaagaag tttgagggga aaaaaggtgc agagaaacag
     1861 agaaggacat catgtaaagg tgaaggcaga gactggaatg attcaaccac aaaccaaaga
     1921 tggtcaagat tcaccaaaac aaaaaggggc aaggaatgag tcatccttaa agcctttgaa
     1981 ggaagtgagt tcctgccaac gttgtgattt tggaggagcc tagagaactg atgagtgact
     2041 aatctgctat tgccttaagc cacccaattt gcagtaagtt gttaagataa accaggggaa
     2101 ataatatatc acacaaattg tcctcttatt taagtttttt atttgaatat ctggaatgaa
     2161 ttctgtattc caccttgcct cagctgattc agctgatatg ccattccacc ctacccttca
     2221 attgttgcat gcattttggg cagtaaattg acttctgttt aaaaaaaaaa atatatatat
     2281 atatatatat attcttctta ctttacaagc taaatcaatg aaatttgatc ttgtagaggt
     2341 aatatatttt caatagttat tacaaacgtg ttttttcaaa aacttttata acgaaatttg
     2401 ttttattgat gcaaaacaaa tttgggagta aagggaagtc actctcagag tatatgaaga
     2461 cactggagta catctttacc ttacagtaat gcacagcctc tcaagataat gtctcagaac
     2521 tgctcaattg aagaaattcc tacttcccta atatgtaaga atgcatatgt acttaaaaaa
     2581 tataacatca tttttgtaaa accaataata atagcaacta taatttcata tagcatttta
     2641 catgtgcata ttaggaatgg gatgtttgca tattagcagt gtctaggagg atatgcatca
     2701 gaagagaata ttggcttctt catactggca agaattcaga agatttctgt tttattatat
     2761 tttaatttac aatttatatt tactacatgg ggaatataaa gttagat
//
LOCUS       NM_001005492             939 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily J member 2
            (OR5J2), mRNA.
ACCESSION   NM_001005492
VERSION     NM_001005492.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 939)
  AUTHORS   Parmentier M, Libert F, Schurmans S, Schiffmann S, Lefort A,
            Eggerickx D, Ledent C, Mollereau C, Gerard C, Perret J et al.
  TITLE     Expression of members of the putative olfactory receptor gene family
            in mammalian germ cells
  JOURNAL   Nature 355 (6359), 453-455 (1992)
   PUBMED   1370859
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000312298.1/ ENSP00000310788.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AP003034.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..939
                     /gene="OR5J2"
                     /gene_synonym="OR11-266"
                     /note="olfactory receptor family 5 subfamily J member 2"
                     /db_xref="GeneID:282775"
                     /db_xref="HGNC:HGNC:19612"
     CDS             1..939
                     /gene="OR5J2"
                     /gene_synonym="OR11-266"
                     /note="olfactory receptor OR11-266"
                     /codon_start=1
                     /product="olfactory receptor 5J2"
                     /protein_id="NP_001005492.1"
                     /db_xref="CCDS:CCDS31522.1"
                     /db_xref="GeneID:282775"
                     /db_xref="HGNC:HGNC:19612"
                     /translation="MADDNFTVVTEFILLGLTDHAELKAVLFVVFLVIYAITLLRNLGM
                     ILLIQITSKLHTPMYFLLSCLSFVDACYSSAIAPKMLVNLLVVKATISFSACMVQHLCF
                     GVFITTEGFLLSVMAYDRYVAIVSPLLYTVAMSDRKCVELVTGSWIGGIVNTLIHTISL
                     RRLSFCRLNAVSHFFCDIPSLLKLSCSDTSMNELLLLTFSGVIAMATFLTVIISYIFIA
                     FASLRIHSASGRQQAFSTCASHLTAVTIFYGTLIFSYIQPSSQYFVEQEKVVSMFYTLG
                     IPMLNLLIHSLRNKDVKEAVKRAIEMKHFLC"
     misc_feature    13..15
                     /gene="OR5J2"
                     /gene_synonym="OR11-266"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH18.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR5J2"
                     /gene_synonym="OR11-266"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH18.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR5J2"
                     /gene_synonym="OR11-266"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH18.1);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR5J2"
                     /gene_synonym="OR11-266"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH18.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR5J2"
                     /gene_synonym="OR11-266"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH18.1);
                     transmembrane region"
     misc_feature    589..651
                     /gene="OR5J2"
                     /gene_synonym="OR11-266"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH18.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR5J2"
                     /gene_synonym="OR11-266"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH18.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR5J2"
                     /gene_synonym="OR11-266"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH18.1);
                     transmembrane region"
ORIGIN
        1 atggctgatg ataattttac agttgtcact gagtttattc ttttgggatt gacagatcat
       61 gctgaactaa aagctgtgct ttttgtggtg ttcctggtga tttacgccat taccttgttg
      121 aggaatctgg gcatgatcct cttaatccaa atcacctcca aactccacac acccatgtac
      181 tttttactca gctgtctttc atttgtggat gcctgctatt catctgcaat tgcacccaaa
      241 atgctggtga acctcctggt tgtgaaggca acaatttctt tctctgcttg catggtacag
      301 catttgtgtt tcggagtgtt catcaccaca gaaggcttct tactgtcagt gatggcctat
      361 gaccgctatg tggccattgt gagtcccttg ctttacactg tagccatgtc tgatagaaag
      421 tgtgtggagc ttgtcacagg atcatggata ggtggaatag ttaacacatt aatccacaca
      481 atcagcttga ggagactgtc cttttgtagg ctaaatgctg tcagccactt cttctgtgac
      541 attccttcac tgctaaagct gtcatgttct gacacctcca tgaatgagtt gttgctgtta
      601 accttctccg gagtcattgc catggccacc ttcttgactg tgatcatttc ctacatcttc
      661 attgcttttg ctagcctaag gatccactca gcatcaggca gacagcaagc cttctccacc
      721 tgtgcctctc acctgactgc tgtgaccata ttctatggta ccttaatctt tagctacatt
      781 cagccaagct cccagtattt tgtggaacaa gagaaagtgg tttctatgtt ctatacgcta
      841 gggattccca tgttaaacct gttgatacac agtttgagaa acaaggacgt aaaggaggca
      901 gtgaaaaggg ccatagaaat gaaacatttc ctctgttaa
//
LOCUS       NM_001005493            1521 bp    mRNA    linear   PRI 16-DEC-2020
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily C member 6
            (OR6C6), mRNA.
ACCESSION   NM_001005493
VERSION     NM_001005493.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1521)
  AUTHORS   Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and
            Mollon JD.
  TITLE     Variants in the 1q21 risk region are associated with a visual
            endophenotype of autism and schizophrenia
  JOURNAL   Genes Brain Behav 13 (2), 144-151 (2014)
   PUBMED   24152035
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358433.3/ ENSP00000351211.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC122684.3.
            On Aug 3, 2020 this sequence version replaced NM_001005493.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1521
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..1521
                     /gene="OR6C6"
                     /note="olfactory receptor family 6 subfamily C member 6"
                     /db_xref="GeneID:283365"
                     /db_xref="HGNC:HGNC:31293"
     misc_feature    238..240
                     /gene="OR6C6"
                     /note="upstream in-frame stop codon"
     CDS             277..1221
                     /gene="OR6C6"
                     /codon_start=1
                     /product="olfactory receptor 6C6"
                     /protein_id="NP_001005493.1"
                     /db_xref="CCDS:CCDS31817.1"
                     /db_xref="GeneID:283365"
                     /db_xref="HGNC:HGNC:31293"
                     /translation="MKNKSMEIEFILLGLTDDPQLQIVIFLFLFLNYTLSLMGNLIIII
                     LTLLDPRLKTPMYFFLRNFSFLEVIFTTVCIPRFLITIVTRDKTISYNNCATQLFFILL
                     PGVTEFYLLAAMSYDRYVAICKPLHYPIIMSSKVCYQLVLSSWVTGFLIIFPPLVMGLK
                     LDFCASKTIDHFMCETSPILQISCTDTHVLELMSFTLAVVTLVVTLVLVILSYTCIIKT
                     ILKFSSAQQRNKAFSTCTSHMIVVSMTYGSCIFMYIKPSAKERVTVSKGVALLYTSIAP
                     LLNPFIYTLRNQQVKEVFWDVLQKNLCFSKRPF"
     misc_feature    283..285
                     /gene="OR6C6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NF89.1); glycosylation site"
     misc_feature    349..411
                     /gene="OR6C6"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NF89.1);
                     transmembrane region"
     misc_feature    466..528
                     /gene="OR6C6"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NF89.1);
                     transmembrane region"
     misc_feature    562..624
                     /gene="OR6C6"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NF89.1);
                     transmembrane region"
     misc_feature    700..762
                     /gene="OR6C6"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NF89.1);
                     transmembrane region"
     misc_feature    874..936
                     /gene="OR6C6"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NF89.1);
                     transmembrane region"
     misc_feature    988..1050
                     /gene="OR6C6"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NF89.1);
                     transmembrane region"
     misc_feature    1084..1146
                     /gene="OR6C6"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NF89.1);
                     transmembrane region"
ORIGIN
        1 gatagatgtc cattaaaatt attaatatct gagtatcaat ctttatagtg aggatgaagt
       61 tgaggaaatg tggaaattct ctacagaaac acaatacgta cacattgcct ctccccacaa
      121 aaatcattgg taataaatgt gcctattgga taataaaatg tggtcataaa atgagtagaa
      181 ttgtcactaa ttatgttagc atgcatctct tccgtgcaca cagaaagaaa tgaataatag
      241 atccaaaaaa gatttgataa ggatcacaaa agagaaatga agaacaaatc aatggaaata
      301 gagttcattc tcctaggatt gacagatgac ccacagttgc aaattgtgat tttcctgttt
      361 ctatttctca actacacctt gagcctgatg gggaacttaa tcatcatcat cctcaccctg
      421 ctggatcccc ggctcaagac gccaatgtat ttctttctcc gtaatttctc ctttttggaa
      481 gtaatattca caacagtgtg tattcctaga ttcttgataa ccattgtgac tagagacaaa
      541 accatttctt ataataattg tgcaactcaa ttatttttta tccttttacc gggagttact
      601 gagttttacc tcctggctgc catgtcctat gaccgctacg ttgccatctg caaaccactg
      661 cattatccaa tcattatgag cagcaaagtc tgctaccaac ttgtacttag ctcttgggta
      721 actggattct taatcatatt tcccccattg gtcatgggac tcaagctgga tttttgtgct
      781 tccaaaacta ttgaccactt tatgtgtgaa acttctccta ttctgcagat ctcctgcaca
      841 gatacccatg tcctagaatt gatgtctttt accttagctg tggtgacact tgtggtcaca
      901 ctggtattag tgattctctc ttacacttgc attattaaga ccattctgaa attctcttct
      961 gcacagcaaa ggaacaaagc attttccacc tgtacttccc acatgattgt tgtctccatg
     1021 acatacggta gctgtatctt tatgtatatt aaaccatctg caaaagaaag agtgactgta
     1081 tccaaaggtg tagctttgct ctatacctca attgcccctt tactaaatcc cttcatttat
     1141 actctcagaa accagcaggt gaaagaagtc ttctgggatg tattacaaaa gaatttgtgt
     1201 ttttctaaaa gaccatttta agaatctgct acaaattaca actttaccat aaaaactgga
     1261 aaacggcctg gcatggtggc tcatgcctgt aatcacagca ctttgggagg ctgaggaggg
     1321 tggttacctg aggtcaggag ttcgagacca gcctggccaa catggtgaaa ccccgtctct
     1381 acttaaaagt acaaaaatta gctgggcgtg gtggagagtg cctgtaatcc cagctactca
     1441 ggagtctgag gcaagagaat agcttgaact cgggaggtgg aggttgcagt gagcccagat
     1501 ggtgccactg cacaccagct t
//
LOCUS       NM_001005494            5141 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily C member 4
            (OR6C4), transcript variant 1, mRNA.
ACCESSION   NM_001005494
VERSION     NM_001005494.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5141)
  AUTHORS   Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and
            Mollon JD.
  TITLE     Variants in the 1q21 risk region are associated with a visual
            endophenotype of autism and schizophrenia
  JOURNAL   Genes Brain Behav 13 (2), 144-151 (2014)
   PUBMED   24152035
REFERENCE   2  (bases 1 to 5141)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   3  (bases 1 to 5141)
  AUTHORS   Youngblood K, Fruchter L, Ding G, Lopez J, Bonagura V and Davidson
            A.
  TITLE     Rheumatoid factors from the peripheral blood of two patients with
            rheumatoid arthritis are genetically heterogeneous and somatically
            mutated
  JOURNAL   J Clin Invest 93 (2), 852-861 (1994)
   PUBMED   7509350
REFERENCE   4  (bases 1 to 5141)
  AUTHORS   Lauzurica P, Bragado R, Lopez D, Galocha B and Lopez de Castro JA.
  TITLE     Asymmetric selection of T cell antigen receptor alpha- and
            beta-chains in HLA-B27 alloreactivity
  JOURNAL   J Immunol 148 (11), 3624-3630 (1992)
   PUBMED   1316921
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641569.1/ ENSP00000493181.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009779.18.
            On Jul 31, 2020 this sequence version replaced NM_001005494.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..5141
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..5141
                     /gene="OR6C4"
                     /gene_synonym="OR12-10"
                     /note="olfactory receptor family 6 subfamily C member 4"
                     /db_xref="GeneID:341418"
                     /db_xref="HGNC:HGNC:19632"
     misc_feature    476..478
                     /gene="OR6C4"
                     /gene_synonym="OR12-10"
                     /note="upstream in-frame stop codon"
     CDS             536..1465
                     /gene="OR6C4"
                     /gene_synonym="OR12-10"
                     /note="olfactory receptor OR12-10"
                     /codon_start=1
                     /product="olfactory receptor 6C4"
                     /protein_id="NP_001005494.1"
                     /db_xref="CCDS:CCDS31827.1"
                     /db_xref="GeneID:341418"
                     /db_xref="HGNC:HGNC:19632"
                     /translation="MKNRTMFGEFILLGLTNQPELQVMIFIFLFLTYMLSILGNLTIIT
                     LTLLDPHLQTPMYFFLRNFSFLEISFTSIFIPRFLTSMTTGNKVISFAGCLTQYFFAIF
                     LGATEFYLLASMSYDRYVAICKPLHYLTIMSSRVCIQLVFCSWLGGFLAILPPIILMTQ
                     VDFCVSNILNHYYCDYGPLVELACSDTSLLELMVILLAVVTLMVTLVLVTLSYTYIIRT
                     ILRIPSAQQRTKAFSTCSSHMIVISLSYGSCMFMYINPSAKEGGAFNKGIAVLITSVTP
                     LLNPFIYTLRNQQVKQAFKDSVKKIVKL"
     misc_feature    542..544
                     /gene="OR6C4"
                     /gene_synonym="OR12-10"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGE1.1); glycosylation site"
     misc_feature    605..667
                     /gene="OR6C4"
                     /gene_synonym="OR12-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE1.1);
                     transmembrane region"
     misc_feature    692..754
                     /gene="OR6C4"
                     /gene_synonym="OR12-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE1.1);
                     transmembrane region"
     misc_feature    827..889
                     /gene="OR6C4"
                     /gene_synonym="OR12-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE1.1);
                     transmembrane region"
     misc_feature    947..1009
                     /gene="OR6C4"
                     /gene_synonym="OR12-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE1.1);
                     transmembrane region"
     misc_feature    1121..1180
                     /gene="OR6C4"
                     /gene_synonym="OR12-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE1.1);
                     transmembrane region"
     misc_feature    1241..1303
                     /gene="OR6C4"
                     /gene_synonym="OR12-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE1.1);
                     transmembrane region"
     misc_feature    1343..1405
                     /gene="OR6C4"
                     /gene_synonym="OR12-10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGE1.1);
                     transmembrane region"
ORIGIN
        1 agatgcccat cctctgccat ctaagaactt caacataatc tctcttagaa cataaatttt
       61 cagaaatttt ctgtctctca aagtattttc ttccaattca ataactgcta tgggctttgt
      121 ttttattttt tattacctat gtgaagttct ctgtctctca ggaactatga tttgattctg
      181 gattggattc ttagaatgga aaataatatg ctcttttttc tggttaagtt ccataagttt
      241 ggatacttct attaagagaa aggtaaaatg tggatggaag ccaatagaaa acatgttaaa
      301 gtatatacta ctcaaagatt cacgtggcac atctcatctt tgatttacct cttaggaaca
      361 acaaggtaaa cagtatacta tagtcattca ggttgtcaaa ggtatgagca acatatgttt
      421 ttaaagtcac tgattttatc attctataaa tgtggatcat gaaatgaatc aactgtgaaa
      481 atctggaaga aaatgcagta cttgccaaag accacaggtt ttccgaaggt caacaatgaa
      541 aaacagaacc atgtttggtg agtttattct actgggcctt acaaatcaac ctgaactcca
      601 agtgatgata ttcatctttc tgttcctcac ctacatgcta agtatcctag gaaatctgac
      661 tattatcacc ctcaccttac tagaccccca cctccagacc cccatgtatt tcttcctccg
      721 gaatttctcc ttcttagaaa tttccttcac atccattttt attcccagat ttctgaccag
      781 catgacaaca ggaaataaag ttatcagctt tgctggctgc ttgactcagt atttttttgc
      841 tatatttctt ggagctaccg agttttacct cctggcctcc atgtcttatg atcgttatgt
      901 ggccatctgc aaacccttgc attacctgac tattatgagc agcagagtct gcatacaact
      961 agtgttctgc tcctggttgg ggggattcct agcaatctta ccaccaatca tcctgatgac
     1021 ccaggtagat ttctgtgtct ccaacattct gaatcactat tactgtgact atgggcctct
     1081 cgtggagctt gcctgctcag acacaagcct cttagaactg atggtcatcc tcttggccgt
     1141 tgtgactctc atggttactc tggtgctggt gacactttct tacacataca ttatcaggac
     1201 tattctgagg atcccttctg cccagcaaag gacaaaggcc ttttccactt gttcctccca
     1261 catgattgtc atctccctct cttatggcag ctgcatgttt atgtacatta atccttctgc
     1321 aaaagaagga ggtgctttca acaaaggaat agctgtactc attacttcgg ttactccctt
     1381 actgaatccc ttcatatata ctttaagaaa tcagcaagtg aaacaagctt tcaaggactc
     1441 agtcaaaaag attgtgaaac tttaaaaaag gagattacac ttcaaaatac attttcactt
     1501 aacaaatatg cattgaatgt ctatatttca agtgctaaat tggcccttga agattaaaat
     1561 aggaaaagta tatgtcttaa tttcaagaaa actatagtct agaatcaagg aaagatatat
     1621 aaatggtaaa tttatgtaat aaatttacaa aaaacaaaat aatattttaa ttgttattag
     1681 agaagagtga atggggatct gaaaaggaac agttggaaag aattagttct gttttccata
     1741 aattatttga aatttaagaa gcaaaacaga ttgtttattt agaagagtag gaggataaga
     1801 atttagagtg aaaaaggaaa ccagatcata aaagtaagta attacaacta ctgagttagc
     1861 tgggtttcat gagtcaagaa attttcagaa ttgttttgag gagaatgtag tatcagcatt
     1921 gttcttcagc atggagccct ggagactatg tttccatcga ggagtgaata atttttcttc
     1981 tcctccattt tttcatctat atttcaaatg taaccattgc aacttccctc ctttcataag
     2041 aggaaaatga aagaatatat atttagtcta cttttctcca aatgaggaga aaatttttaa
     2101 gatttttgtc aacttaatat gtccattttc tagtttatgg ttaaaacagg tttctagaga
     2161 caagtttaga aggctttcat tctcctagac aaaatctatt gtttcttttc ttaggtgaca
     2221 ttttaagtta atggcatgag atctgttttc tctctctttg atagtttctg gtaatttttt
     2281 ccttcctatc atgattttat tttcatcctt ttgtttcact ttattagata ttagaaaaga
     2341 aaattctgtt atctggctct acttctttaa ctttccccca gatttttgct ttcgtttgta
     2401 acataaacca tggatgacca ttttataaag taaaaagaat ataaagtgtc aatgcaatct
     2461 tatatctaga atgttccaaa ttatgagtct tgaaaaacaa ctagaaatag actatcctac
     2521 caaaaacttt acacatggat tcaaggcaat gacaacttga atttgaatag gtagtggtag
     2581 tgtccaattt caatggaagt aagcactttt ttttaatctg agcatttgta cacagtttaa
     2641 taatatctta aaaaattgca ggagctttgt tactatttgg ggtaaaagtg gaacacaatc
     2701 tggtattttc acatgcttta tatgtggtaa tatgttgagt aaaatgaggt acttctcaag
     2761 catttaagga acaagctgga ttgaactgat tatgagagca aattatcaga gccacagaag
     2821 gtattggaga atgtataata tttttgaaaa agtattttat gtaaagctgt tgctattctg
     2881 agtatcttgt tttctttggt tgctagctag agattagtga taatattcaa tatattccaa
     2941 atttaatgca ctacaagaac aagaagtgtt cttgaatagc cacatctaaa tcattaagtt
     3001 cccctacacc cacatttcta ctaaaaccta tggtacagtg ggagcaatgt catatagtgg
     3061 cttaaaacat aggctttagt tcaaatccca gattttcaac tttctaccaa agttacctgg
     3121 ggatagttac ttgatctctc taaggctcac ctctgtcaac tctaaaatgt ttacaataat
     3181 agtgtctatc ttatagtttt gagcattcac tgagaaaata gatgtaaaat attaaaagac
     3241 agccagtatt tattgtgttt aataaatgac atctattata actatattat aaacaatata
     3301 tttttcaagg aactggagct taactagaaa gaaggcatta aattggttgg tttaatatag
     3361 cagggacagt aaaaatgttg gccattgtac ttgaaatcca tctgcacaag gccagcatat
     3421 ttctactctc cacacatcca gctgcatgct gggtagctgg gtcagcaaag atcttaccta
     3481 ctcttcagat aaagccatca aaatacttgg cagcaggtta taagaactgg gctagcatca
     3541 acttcattgc cctagatatc tatgggagag acaggatgta ttaacatgct gagacaagga
     3601 aggaaggtac tttgtgtaag ttaatgttta agatcactag gcaagagttc actcagcatt
     3661 ctttatataa gcatttggaa atgaacatgg aaaagaatgt atcaccttct aaatgagctt
     3721 gtcaaaaaaa aaaaagcaag tcatattctt ctaaagctgt tcatctagtc tggctgtatg
     3781 ttaattcata cttggaatgt aatccaagtc atagataagc aaaaggaatg acttcacaga
     3841 gtctggtgct gagctaccag aatattcagt atctaaatat ataaaatggt gagtttgatt
     3901 cctcatgtca ccaaagtgga caagaattaa aagaaacagc tttagctgcc taacattctc
     3961 agaatcatat tataccagtg ctagggtgag gagactatga aaatgagtaa aagccaatct
     4021 gctacatttg ggcattcatt cttctattgc ctctctttaa agctgccaga gcttgtggat
     4081 atatggatta caattctaaa caggtagtct tccagcatca tttcttgcaa agagttttaa
     4141 ataaaattca aaacaataaa atatattttt taattttttt tatttcagcc aggatcagtg
     4201 actcacactt ctaatcccag ctctttggga ggctgaggca ggcggatcac ttgaggtcag
     4261 gagttcaaga acagcctggc caacacagtg aaaccccgtt tctactatta cattgataga
     4321 aaagtaattg tggtttttgc tactaaaagt aatggcaaaa actgcaatta cttttgcacc
     4381 aaccaaataa aaatacaaaa atcagccagg catggtgatg cgtgcctgta attccagcta
     4441 ctgggaaggc tgaagcacaa gaatcacttg gagtacaagt ggccttttgt tacatcagtg
     4501 aattaaatag tggtgaattc tgggatttta gtgcacctgt cacccaagta gtatacattg
     4561 gacctaagct gtagtttttt tatccctagc cccctcccat cattcccctt ctgagtctct
     4621 aaagttcatt ataccactct gtgtgccttt gcatactcat agcttagctc ccacttacga
     4681 gtgagaacat acttataagt gagaacatag tttttggttt tccactcccg tattacttca
     4741 cttagaataa cgacttccag ctccatccaa actgctgcaa aatacattct tttgttcctt
     4801 tccaggccag gtgcagtggc tcttgcctgt aatcccagaa atttgggagg ctgaggaggg
     4861 tggatcactt gagttcagga gttcgagacc agcctggcca acatggtgaa accctgtctc
     4921 tatcaaaaat acaaaaatta gcctggtgtg gtggcacgtg cctgtagttc cagctacttg
     4981 ggaggctaag gtacaagaat cacttgaacc agggaggcag aggttgtagt gagctgagtt
     5041 tatgccactg tactccaggc tgggcaacac agcaagactc tgtctcaaaa aaacataaaa
     5101 taaaataata aaaaatgttg cttcttttca tggctgagta g
//
LOCUS       NM_001005495             957 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily T member 3
            (OR2T3), mRNA.
ACCESSION   NM_001005495
VERSION     NM_001005495.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 957)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136915.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000359594.3/ ENSP00000352604.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC138089.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..957
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..957
                     /gene="OR2T3"
                     /note="olfactory receptor family 2 subfamily T member 3"
                     /db_xref="GeneID:343173"
                     /db_xref="HGNC:HGNC:14727"
     CDS             1..957
                     /gene="OR2T3"
                     /note="seven transmembrane helix receptor"
                     /codon_start=1
                     /product="olfactory receptor 2T3"
                     /protein_id="NP_001005495.1"
                     /db_xref="CCDS:CCDS31117.1"
                     /db_xref="GeneID:343173"
                     /db_xref="HGNC:HGNC:14727"
                     /translation="MCSGNQTSQNQTASTDFTLTGLFAESKHAALLYTVTFLLFLMALT
                     GNALLILLIHSEPRLHTPMYFFISQLALMDLMYLCVTVPKMLVGQVTGDDTISPSGCGI
                     QMFFYLTLAGAEVFLLAAMAYDRYAAVCRPLHYPLLMNQRVCQLLVSACWVLGMVDGLL
                     LTPITMSFPFCQSRKILSFFCETPALLKLSCSDVSLYKTLMYLCCILMLLAPIMVISSS
                     YTLILHLIHRMNSAAGHRKALATCSSHMIIVLLLFGASFYTYMLPSSYHTAEQDMMVSA
                     FYTIFTPVLNPLIYSLRNKDVTRALRSMMQSRMNQEK"
     misc_feature    13..15
                     /gene="OR2T3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH03.2); glycosylation site"
     misc_feature    28..30
                     /gene="OR2T3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NH03.2); glycosylation site"
     misc_feature    91..162
                     /gene="OR2T3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH03.2);
                     transmembrane region"
     misc_feature    187..252
                     /gene="OR2T3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH03.2);
                     transmembrane region"
     misc_feature    316..375
                     /gene="OR2T3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH03.2);
                     transmembrane region"
     misc_feature    433..489
                     /gene="OR2T3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH03.2);
                     transmembrane region"
     misc_feature    601..672
                     /gene="OR2T3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH03.2);
                     transmembrane region"
     misc_feature    724..792
                     /gene="OR2T3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH03.2);
                     transmembrane region"
     misc_feature    832..891
                     /gene="OR2T3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NH03.2);
                     transmembrane region"
ORIGIN
        1 atgtgctcag ggaatcagac ttctcagaat caaacagcaa gcactgattt caccctcacg
       61 ggactctttg ctgagagcaa gcatgctgcc ctcctctaca ccgtgacctt ccttcttttc
      121 ttgatggccc tcactgggaa tgccctcctc atcctcctca tccactcaga gccccgcctc
      181 cacaccccca tgtacttctt catcagccag ctcgcgctca tggatctcat gtacctatgc
      241 gtgactgtgc ccaagatgct tgtgggccag gtcactggag atgataccat ttccccgtca
      301 ggctgtggga tccagatgtt cttctacctg accctggctg gagctgaggt tttcctcctg
      361 gctgccatgg cctatgaccg atatgctgct gtttgcagac ctctccatta cccactgctg
      421 atgaaccaga gggtgtgcca gctcctggtg tcagcctgct gggttttggg aatggttgat
      481 ggtttgttgc tcacccccat taccatgagc ttcccctttt gccagtctag gaaaatcctg
      541 agttttttct gtgagactcc tgccctgctg aagctctcct gctctgacgt ctccctctat
      601 aagacgctca tgtacctgtg ctgcatcctc atgcttctcg cccccatcat ggtcatctcc
      661 agctcataca ccctcatcct gcatctcatc cacaggatga attctgccgc cggccacagg
      721 aaggccttgg ccacctgctc ctcccacatg atcatagtgc tgctgctctt cggtgcttcc
      781 ttctacacct acatgctccc gagttcctac cacacagctg agcaggacat gatggtgtct
      841 gccttttaca ccatcttcac tcctgtgctg aaccccctca tttacagtct ccgcaacaaa
      901 gatgtcacca gggctctgag gagcatgatg cagtcaagaa tgaaccaaga aaagtag
//
LOCUS       NM_001005496             987 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily D member 16
            (OR5D16), mRNA.
ACCESSION   NM_001005496
VERSION     NM_001005496.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 987)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 987)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378396.1/ ENSP00000367649.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC036111.7.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..987
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..987
                     /gene="OR5D16"
                     /gene_synonym="OR11-154"
                     /note="olfactory receptor family 5 subfamily D member 16"
                     /db_xref="GeneID:390144"
                     /db_xref="HGNC:HGNC:15283"
     CDS             1..987
                     /gene="OR5D16"
                     /gene_synonym="OR11-154"
                     /note="olfactory receptor OR11-154"
                     /codon_start=1
                     /product="olfactory receptor 5D16"
                     /protein_id="NP_001005496.1"
                     /db_xref="CCDS:CCDS31512.1"
                     /db_xref="GeneID:390144"
                     /db_xref="HGNC:HGNC:15283"
                     /translation="MFLTERNTTSEATFTLLGFSDYLELQIPLFFVFLAVYGFSVVGNL
                     GMIVIIKINPKLHTPMYFFLNHLSFVDFCYSSIIAPMMLVNLVVEDRTISFSGCLVQFF
                     FFCTFVVTELILFAVMAYDHFVAICNPLLYTVAISQKLCAMLVVVLYAWGVACSLTLAC
                     SALKLSFHGFNTINHFFCELSSLISLSYPDSYLSQLLLFTVATFNEISTLLIILTSYAF
                     IIVTTLKMPSASGHRKVFSTCASHLTAITIFHGTILFLYCVPNSKNSRHTVKVASVFYT
                     VVIPLLNPLIYSLRNKDVKDAIRKIINTKYFHIKHRHWYPFNFVIEQ"
     misc_feature    19..21
                     /gene="OR5D16"
                     /gene_synonym="OR11-154"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGK9.1); glycosylation site"
     misc_feature    82..144
                     /gene="OR5D16"
                     /gene_synonym="OR11-154"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK9.1);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR5D16"
                     /gene_synonym="OR11-154"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK9.1);
                     transmembrane region"
     misc_feature    304..366
                     /gene="OR5D16"
                     /gene_synonym="OR11-154"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK9.1);
                     transmembrane region"
     misc_feature    424..486
                     /gene="OR5D16"
                     /gene_synonym="OR11-154"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK9.1);
                     transmembrane region"
     misc_feature    595..657
                     /gene="OR5D16"
                     /gene_synonym="OR11-154"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK9.1);
                     transmembrane region"
     misc_feature    718..780
                     /gene="OR5D16"
                     /gene_synonym="OR11-154"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK9.1);
                     transmembrane region"
     misc_feature    820..882
                     /gene="OR5D16"
                     /gene_synonym="OR11-154"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGK9.1);
                     transmembrane region"
ORIGIN
        1 atgtttctga cagagagaaa tacgacatct gaggccacat tcactctctt gggcttctca
       61 gattacctgg aactgcaaat tcccctcttc tttgtatttc tggcagtcta cggcttcagt
      121 gtggtaggga atcttgggat gatagtgatc atcaaaatta acccaaaatt gcataccccc
      181 atgtattttt tcctcaacca cctctccttt gtggatttct gctattcctc catcattgct
      241 cccatgatgc tggtgaacct ggttgtagaa gatagaacca tttcattctc aggatgtttg
      301 gtgcaattct ttttcttttg cacctttgta gtgactgaat taattctatt tgcggtgatg
      361 gcctatgacc actttgtggc catttgcaat cctctgctct acacagttgc catctcccag
      421 aaactctgtg ccatgctggt ggttgtattg tatgcatggg gagtcgcatg ttccctgaca
      481 ctcgcgtgct ctgctttaaa gttatctttt catggtttca acacaatcaa tcatttcttc
      541 tgtgagttat cctccctgat atcactctct taccctgact cttatctcag ccagttgctt
      601 cttttcactg ttgccacttt taatgagata agcacactac tcatcattct gacatcttat
      661 gcattcatca ttgtcaccac cttgaagatg ccttcagcca gtgggcaccg caaagtcttc
      721 tccacctgtg cctcccacct gactgccatc accatcttcc atggcaccat cctcttcctc
      781 tactgtgtac ccaactccaa aaactccagg cacacagtca aagtggcctc tgtgttttac
      841 accgtggtga tccccttgtt gaatcccctg atctacagtc tgagaaataa agatgttaag
      901 gatgcaatcc gaaaaataat caatacaaaa tattttcata ttaaacatag gcattggtat
      961 ccatttaatt ttgttattga acaataa
//
LOCUS       NM_001005497            4569 bp    mRNA    linear   PRI 16-DEC-2020
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily C member 75
            (OR6C75), mRNA.
ACCESSION   NM_001005497
VERSION     NM_001005497.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4569)
  AUTHORS   Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and
            Mollon JD.
  TITLE     Variants in the 1q21 risk region are associated with a visual
            endophenotype of autism and schizophrenia
  JOURNAL   Genes Brain Behav 13 (2), 144-151 (2014)
   PUBMED   24152035
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641576.1/ ENSP00000493430.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC125816.8.
            On Aug 3, 2020 this sequence version replaced NM_001005497.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..4569
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..4569
                     /gene="OR6C75"
                     /note="olfactory receptor family 6 subfamily C member 75"
                     /db_xref="GeneID:390323"
                     /db_xref="HGNC:HGNC:31304"
     misc_feature    335..337
                     /gene="OR6C75"
                     /note="upstream in-frame stop codon"
     CDS             401..1339
                     /gene="OR6C75"
                     /codon_start=1
                     /product="olfactory receptor 6C75"
                     /protein_id="NP_001005497.1"
                     /db_xref="CCDS:CCDS31820.1"
                     /db_xref="GeneID:390323"
                     /db_xref="HGNC:HGNC:31304"
                     /translation="MRNSTAVTDFILLGLTSDPQWQVVLFIFLLVTYMLSVTGNLIIIT
                     LTLSDPHLQTPMYFFLRNFSFLEISFTSVCIPRFLVTVVTGNRTISYNGCVAQLFFFIF
                     LGVTEFYLLAAMSYDRCMAICKPLHYTIIMSTRVCTLLVFSSWLAGFLIIFPPVMLLLQ
                     LDFCASNVIDHFICDSSPMLQLSCTNTHFLELMAFFLAVVTLMVTLTLVILSYTNIIRT
                     ILKIPSMSQRKKAFSTCSSHMIVVSISYSSCIFMYIKTSARERVTLSKGVAVLNTSVAP
                     LLNPFIYTLRNKQVKQAFKSMVQKMIFSLNK"
     misc_feature    407..409
                     /gene="OR6C75"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NL08.1); glycosylation site"
     misc_feature    470..532
                     /gene="OR6C75"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NL08.1);
                     transmembrane region"
     misc_feature    590..652
                     /gene="OR6C75"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NL08.1);
                     transmembrane region"
     misc_feature    686..748
                     /gene="OR6C75"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NL08.1);
                     transmembrane region"
     misc_feature    821..883
                     /gene="OR6C75"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NL08.1);
                     transmembrane region"
     misc_feature    983..1045
                     /gene="OR6C75"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NL08.1);
                     transmembrane region"
     misc_feature    1112..1174
                     /gene="OR6C75"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NL08.1);
                     transmembrane region"
     misc_feature    1208..1270
                     /gene="OR6C75"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NL08.1);
                     transmembrane region"
ORIGIN
        1 ctcggaaagc cactacatta gccttcattt caactaaaat ttgtatcaag gtaatacttt
       61 ttaaagcggc gatagggaat atactgaaac atttagaaga cagagatgta ttctgaaata
      121 tataaaaata taatgaagga aatacagaaa taattgattt ataagataga tgcatcagcg
      181 gatagctaga cacaatggaa tgttatccag cctcataaaa gaaggagata ctgccacact
      241 gccatttgtg acattacgga tgaacctgga aggcattatg gtaaatggaa agagccagac
      301 agaaaaaaaa taataatttt ctttactggt gtcatagttt tctggtttct tcacctattt
      361 tacagcgaaa atacagaata cttttctaaa gaaaaaaata atgagaaatt ccacagcagt
      421 aacagacttt attcttcttg gattgacaag tgacccacag tggcaggttg tacttttcat
      481 atttcttctt gttacctaca tgttaagtgt gactgggaac ctgatcatta tcaccctcac
      541 cctttcagat ccccatctgc agactcccat gtatttcttc cttcggaact tctcattcct
      601 ggaaatttca ttcacgtctg tctgcattcc cagattcctt gtcactgttg tgacaggaaa
      661 cagaaccatt tcttataatg ggtgtgtggc tcagctattt tttttcatct tcttgggggt
      721 gacagaattt taccttctgg ctgccatgtc ctatgaccgc tgcatggcca tctgcaaacc
      781 tcttcattac acaatcatca tgagcaccag agtgtgtacc cttcttgtct ttagctcctg
      841 gcttgcaggg tttctgatca tctttccacc agtaatgctt ctgctgcagt tggatttctg
      901 tgcctccaat gtaattgatc attttatctg tgactcttct ccaatgctgc agctctcttg
      961 cacaaacact cactttctag aactcatggc atttttttta gctgtggtaa cactgatggt
     1021 caccttgaca ttagttattc tctcctacac aaacatcatc cggacaattc tgaaaattcc
     1081 ttctatgagt caaaggaaaa aagccttttc cacttgctcc tcccatatga tagttgtctc
     1141 catctcttac agtagctgta tcttcatgta cattaagact tctgccagag aaagggtgac
     1201 tttaagcaaa ggagtagctg tgctcaatac ctcagtggct cctctcttga atcccttcat
     1261 atacacactg agaaataagc aagtgaagca agccttcaag agcatggtcc agaagatgat
     1321 tttttcttta aataaatgaa tgtgattatg taaaaaatgt acccccaaag gcaaagctga
     1381 atgaaaaact ctctaccctt ctctacatga actctttcta aacaccttat ttcacacttt
     1441 tagttagaca tagttacata tcatcaacac ttcttaatga aattagccta aaaaccaaga
     1501 tttagctctt ctaaactata tagaaagtgt tcgctctctc acctatgtaa ctaaatttta
     1561 ggtaaattaa taattactat ggtttattga gggatagcat tgggagatat acctaaggct
     1621 agatgacgag ttagtgggtg cagcgcacca gcatggcaca tgtatacata tgtaactaac
     1681 ctgcacaatg tgcacatgta ccttaaaact taaagtataa taaaaaataa taataaaata
     1741 aaggcaaaat agattcttca ttcataaaat agaggtagct ataaattaaa aacttactaa
     1801 aaccacattc aactatgaaa ttaattttat atgaaatgtt taaactatgt atcttaatta
     1861 atatatctaa aattttttct tcaatgtcac caggaaaaac atgttataaa actaaaagca
     1921 tcattaaaat gtctccttgt atttgtcaat aaaatgtagt taaaatgtgt gtaaacatta
     1981 aataaaagtg taagacaaat gtgcagagat attatctctg ttgtttgaat taaggctgta
     2041 ttactttttg tcttagcttt cctagaaaaa aagagcaaag cgtaatcaaa gagttgatat
     2101 tatttatctt atattttcct ttgataatat ttccttaaaa atagattatt taacagagaa
     2161 cttttctgtt tctgccaata ttttaaaaga aaaaccatga tctatgaagg caattcatat
     2221 ttgtgttcag attccttata ttgatacaaa attgccttac tactgatatg atgaagaaaa
     2281 tgacaaagta agagtctaca atggtgtgat actgcccttt tataaggtat tcggcgaatg
     2341 atgacgtggt ttattaatgt cttggttttt ccttttctag taaacctata atattttatt
     2401 tatctttcca ttgtctcctt cacaggtttc actcccctca cctatatcca agaaaatgac
     2461 ttttagaggt atttgagaac tgtaaaaaat gtgttcaagc ccacttccta tagttaatga
     2521 gtccctcaac tcccatgtat cattaagaaa attggttgtt gaatccagca gcacatcaaa
     2581 aagataattc accacgatca agtgggcttt aaacctggat gcaaggatgg tttaacatac
     2641 acgaatcaat aaatgtgatt caccacataa acagaactaa aaacaaaaac catatgatca
     2701 tctcaataga cacagaaaaa atagtcaata aatccaacat ccctttatga caaaaacact
     2761 caacaaacca cgcattgaag gaaaatagcc caaaataata acagccatct gtgacagacc
     2821 cacagccaat atcataataa actagcaaaa gttgtatgca ttcttcctga gaactggaac
     2881 aagacaagga tgtcccctct cagcactcct attcaacata gtactgaaag ccctagccag
     2941 agcaatcagg caagagagag aaatgaaagg catccaaata ggaaaagaag aagtcaaatt
     3001 atctccgttt actgaaaata taatcctgta cctaaaaaac tttaaaggtt cctccaaaaa
     3061 actcctaggc ctgataaact acttgagtaa agtttgagga tataaaatca acatagaaaa
     3121 gtcagtagca tttctataca ccaataacat tcaagctgag aaccaaataa aaaacgcaat
     3181 cttggctggg tgtggtggct catgcccgaa atctcagcac tttgggaggc caagcgggga
     3241 ggattgcttg agcccagaag tttaagacca gccttggcaa catagtgaga ctctgtctac
     3301 acaaaaaaat ttaaaaatta gctaagcatg gtagcataca cctgtggtcc cagctactca
     3361 agaagatgag gtgggagaat tgcttggacc ttggaggttg aggctgcagt gagctctcat
     3421 catgccactg cactccaccc tggacaacag agtgagaccc tgtctcaaaa aaataaataa
     3481 aagttgtcca aacatggtgg ctcacgcctg taatcccagc actttgagag gctgaggctg
     3541 gtggatcact tgaggccagg agttcaagac cagcctggac agcatagcaa gaccctatct
     3601 ctacttaaaa ataaaaaaac aagatgcctg taattccagc actttgggag gccaaggcag
     3661 gcaaattact tgagtacaag agttcaagac aagtctgagc aacatggtga aaccccaatc
     3721 tctacaaaaa atacaaaaat tagctggtca cgctggcatg cacctgtagt cccagctact
     3781 taagaggctg aggtggaaga atcgcttgag tacaggaggt ggaggctaca gtgagccaag
     3841 attgcaccac tgcactccag cctgggcgat agagcgaaac tctatctcga taaaataaaa
     3901 caaaataaaa aagttatttt aaaatttcta aaacaagaaa agaaaattgg ctgtcttggg
     3961 acagtagcta tgaatctgac tagatacagg ataaatggat tttagtttga ttccttgatt
     4021 ttcagctttg tctgatatac aggtgaatgt aaagagctct acaggttttc taagtctgtg
     4081 acaaatactt ttttttatag atgtgagcgt ccttcagcac ttgtctattt cttaccattg
     4141 tgttttatgg aatggcatac ttttttttaa aacagattat aatataatat catcacaaaa
     4201 tgaaaattac atgataatga ttacatgatt atttcattat gaattcttta ttgtggcaat
     4261 ttgtaaagaa atgagacatt gtaagtttgc ttttattaag attacaacaa gtaagcagaa
     4321 atgcaaaagt gaaaatcagg agtgtggaaa caacatgcaa acgttaacta agtgaagata
     4381 aagtatatat acatatacaa ctacatgata gatagataga taaagagaga tagagggaaa
     4441 gagagggaaa gaagagaaac tggaaaatta gagagtaagg gaaagtaaat tttcttaatc
     4501 cacaaaaact tatctgaaga agttgattct aatgttcaat aaatgtaaac ccatgaaaat
     4561 cactatgaa
//
LOCUS       NM_001005498            3511 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens rhomboid 5 homolog 2 (RHBDF2), transcript variant 2,
            mRNA.
ACCESSION   NM_001005498
VERSION     NM_001005498.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3511)
  AUTHORS   Schumacher N, Thomsen I, Brundert F, Hejret V, Dusterhoft S, Tichy
            B, Schmidt-Arras D, Voss M and Rose-John S.
  TITLE     EGFR stimulation enables IL-6 trans-signalling via iRhom2-dependent
            ADAM17 activation in mammary epithelial cells
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1870 (7), 119489 (2023)
   PUBMED   37271223
  REMARK    GeneRIF: EGFR stimulation enables IL-6 trans-signalling via
            iRhom2-dependent ADAM17 activation in mammary epithelial cells.
REFERENCE   2  (bases 1 to 3511)
  AUTHORS   Gong H, Xie H, Huangfu Z, Zhang S, Tang Y, Xiao M, Li M and Wang Y.
  TITLE     RHBDF2 is correlated with immune infiltrates in hepatocellular
            carcinoma and may have potential as a biomarker
  JOURNAL   FEBS Open Bio 13 (5), 881-897 (2023)
   PUBMED   36943228
  REMARK    GeneRIF: RHBDF2 is correlated with immune infiltrates in
            hepatocellular carcinoma and may have potential as a biomarker.
REFERENCE   3  (bases 1 to 3511)
  AUTHORS   Sieber B, Lu F, Stribbling SM, Grieve AG, Ryan AJ and Freeman M.
  TITLE     iRhom2 regulates ERBB signalling to promote KRAS-driven tumour
            growth of lung cancer cells
  JOURNAL   J Cell Sci 135 (17) (2022)
   PUBMED   35971826
  REMARK    GeneRIF: iRhom2 regulates ERBB signalling to promote KRAS-driven
            tumour growth of lung cancer cells.
REFERENCE   4  (bases 1 to 3511)
  AUTHORS   Liu Y, Kuang Q, Dai X, Zhan M, Zhou L, Zhu L and Wang B.
  TITLE     Deficiency in Inactive Rhomboid Protein2 (iRhom2) Alleviates
            Alcoholic Liver Fibrosis by Suppressing Inflammation and Oxidative
            Stress
  JOURNAL   Int J Mol Sci 23 (14), 7701 (2022)
   PUBMED   35887045
  REMARK    GeneRIF: Deficiency in Inactive Rhomboid Protein2 (iRhom2)
            Alleviates Alcoholic Liver Fibrosis by Suppressing Inflammation and
            Oxidative Stress. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3511)
  AUTHORS   Louis TJ, Qasem A and Naser SA.
  TITLE     Attenuation of Excess TNF-alpha Release in Crohn's Disease by
            Silencing of iRHOMs 1/2 and the Restoration of TGF-beta Mediated
            Immunosuppression Through Modulation of TACE Trafficking
  JOURNAL   Front Immunol 13, 887830 (2022)
   PUBMED   35585977
  REMARK    GeneRIF: Attenuation of Excess TNF-alpha Release in Crohn's Disease
            by Silencing of iRHOMs 1/2 and the Restoration of TGF-beta Mediated
            Immunosuppression Through Modulation of TACE Trafficking.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3511)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction Assessment
            with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (bases 1 to 3511)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 3511)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
REFERENCE   9  (bases 1 to 3511)
  AUTHORS   Risk,J.M., Field,E.A., Field,J.K., Whittaker,J., Fryer,A., Ellis,A.,
            Shaw,J.M., Friedmann,P.S., Bishop,D.T., Bodmer,J. et al.
  TITLE     Tylosis oesophageal cancer mapped
  JOURNAL   Nat Genet 8 (4), 319-321 (1994)
   PUBMED   7534553
REFERENCE   10  (bases 1 to 3511)
  AUTHORS   Sato K, Mano H, Ariyama T, Inazawa J, Yazaki Y and Hirai H.
  TITLE     Molecular cloning and analysis of the human Tec protein-tyrosine
            kinase
  JOURNAL   Leukemia 8 (10), 1663-1672 (1994)
   PUBMED   7934162
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.13917.1,
            SRR11853566.12449.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000675367.1/ ENSP00000501790.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC015802.21.
            On or before Nov 12, 2019 this sequence version replaced
            XM_005257670.1, NM_001005498.3.
            Transcript Variant: This variant (2) differs in the 5' UTR and uses
            an alternate, in frame splice site in the 5' coding region compared
            to isoform 1. This results in a shorter protein (isoform 2),
            compared to isoform 1.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3511
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..3511
                     /gene="RHBDF2"
                     /gene_synonym="iRhom2; RHBDL5; RHBDL6; TOC; TOCG"
                     /note="rhomboid 5 homolog 2"
                     /db_xref="GeneID:79651"
                     /db_xref="HGNC:HGNC:20788"
                     /db_xref="MIM:614404"
     misc_feature    162..164
                     /gene="RHBDF2"
                     /gene_synonym="iRhom2; RHBDL5; RHBDL6; TOC; TOCG"
                     /note="upstream in-frame stop codon"
     CDS             291..2774
                     /gene="RHBDF2"
                     /gene_synonym="iRhom2; RHBDL5; RHBDL6; TOC; TOCG"
                     /note="isoform 2 is encoded by transcript variant 2;
                     rhomboid family member 2; inactive rhomboid protein 2;
                     rhomboid veinlet-like protein 5; rhomboid veinlet-like
                     protein 6"
                     /codon_start=1
                     /product="inactive rhomboid protein 2 isoform 2"
                     /protein_id="NP_001005498.2"
                     /db_xref="CCDS:CCDS32744.1"
                     /db_xref="GeneID:79651"
                     /db_xref="HGNC:HGNC:20788"
                     /db_xref="MIM:614404"
                     /translation="MASADKNGGSVSSVSSSRLQSRKPPNLSITIPPPEKETQAPGEQD
                     SMLPERKNPAYLKSVSLQEPRSRWQESSEKRPGFRRQASLSQSIRKGAAQWFGVSGDWE
                     GQRQQWQRRSLHHCSMRYGRLKASCQRDLELPSQEAPSFQGTESPKPCKMPKIVDPLAR
                     GRAFRHPEEMDRPHAPHPPLTPGVLSLTSFTSVRSGYSHLPRRKRMSVAHMSLQAAAAL
                     LKGRSVLDATGQRCRVVKRSFAFPSFLEEDVVDGADTFDSSFFSKEEMSSMPDDVFESP
                     PLSASYFRGIPHSASPVSPDGVQIPLKEYGRAPVPGPRRGKRIASKVKHFAFDRKKRHY
                     GLGVVGNWLNRSYRRSISSTVQRQLESFDSHRPYFTYWLTFVHVIITLLVICTYGIAPV
                     GFAQHVTTQLVLRNKGVYESVKYIQQENFWVGPSSIDLIHLGAKFSPCIRKDGQIEQLV
                     LRERDLERDSGCCVQNDHSGCIQTQRKDCSETLATFVKWQDDTGPPMDKSDLGQKRTSG
                     AVCHQDPRTCEEPASSGAHIWPDDITKWPICTEQARSNHTGFLHMDCEIKGRPCCIGTK
                     GSCEITTREYCEFMHGYFHEEATLCSQVHCLDKVCGLLPFLNPEVPDQFYRLWLSLFLH
                     AGVVHCLVSVVFQMTILRDLEKLAGWHRIAIIFILSGITGNLASAIFLPYRAEVGPAGS
                     QFGLLACLFVELFQSWPLLERPWKAFLNLSAIVLFLFICGLLPWIDNIAHIFGFLSGLL
                     LAFAFLPYITFGTSDKYRKRALILVSLLAFAGLFAALVLWLYIYPINWPWIEHLTCFPF
                     TSRFCEKYELDQVLH"
     regulatory      3489..3494
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHBDF2"
                     /gene_synonym="iRhom2; RHBDL5; RHBDL6; TOC; TOCG"
                     /note="hexamer: ATTAAA"
     polyA_site      3511
                     /gene="RHBDF2"
                     /gene_synonym="iRhom2; RHBDL5; RHBDL6; TOC; TOCG"
                     /note="major polyA site"
ORIGIN
        1 gaggagccac cgcccagccg ctcgcaggcg ccgcacggag ttgcgtcccg gggacttggg
       61 gccgcaggga gctgtgagta cccaggaagc tgcaccgtgt ggcctggagc tgtctatctg
      121 tccttccagc cacctgtctg tccagccacc cttccacaga ctgaggcttg acaccggagc
      181 atctgtacag agcaaggaga agacaagaac atgctctaaa gcccttcaca gcaagaccca
      241 ggaagccgcg ggcaaactca gactcgaagc cctcccgcct cctgcccaca atggcctctg
      301 ctgacaagaa tggcgggagc gtgtcctctg tgtccagcag ccgcctgcag agccggaagc
      361 cacccaacct ctccatcacc atcccgccac ccgagaaaga gacccaggcc cctggcgagc
      421 aggacagcat gctgcctgag aggaagaacc cagcctactt gaagagcgtc agcctccagg
      481 agccacgcag ccgatggcag gagagttcag agaagcgccc tggcttccgc cgccaggcct
      541 cactgtccca gagcatccgc aagggcgcag cccagtggtt tggagtcagc ggcgactggg
      601 aggggcagcg gcagcagtgg cagcgccgca gcctgcacca ctgcagcatg cgctacggcc
      661 gcctgaaggc ctcgtgccag cgtgacctgg agctccccag ccaggaggca ccgtccttcc
      721 agggcactga gtccccaaag ccctgcaaga tgcccaagat tgtggatccg ctggcccggg
      781 gccgggcctt ccgccacccg gaggagatgg acaggcccca cgccccgcac ccaccgctga
      841 cccccggagt cctgtccctc acctccttca ccagtgtccg ttctggctac tcccacctgc
      901 cacgccgcaa gagaatgtct gtggcccaca tgagcttgca agctgccgct gccctcctca
      961 aggggcgctc ggtgctggat gccaccggac agcggtgccg ggtggtcaag cgcagctttg
     1021 ccttcccgag cttcctggag gaggatgtgg tcgatggggc agacacgttt gactcctcct
     1081 tttttagtaa ggaagaaatg agctccatgc ctgatgatgt ctttgagtcc cccccactct
     1141 ctgccagcta cttccgaggg atcccacact cagcctcccc tgtctccccc gatggggtgc
     1201 aaatccctct gaaggagtat ggccgagccc cagtccccgg gccccggcgc ggcaagcgca
     1261 tcgcctccaa ggtgaagcac tttgcctttg atcggaagaa gcggcactac ggcctcggcg
     1321 tggtgggcaa ctggctgaac cgcagctacc gccgcagcat cagcagcact gtgcagcggc
     1381 agctggagag cttcgacagc caccggccct acttcaccta ctggctgacc ttcgtccatg
     1441 tcatcatcac gctgctggtg atttgcacgt atggcatcgc acccgtgggc tttgcccagc
     1501 acgtcaccac ccagctggtg ctgcggaaca aaggtgtgta cgagagcgtg aagtacatcc
     1561 agcaggagaa cttctgggtt ggccccagct cgattgacct gatccacctg ggggccaagt
     1621 tctcaccctg catccggaag gacgggcaga tcgagcagct ggtgctgcgc gagcgagacc
     1681 tggagcggga ctcaggctgc tgtgtccaga atgaccactc cggatgcatc cagacccagc
     1741 ggaaggactg ctcggagact ttggccactt ttgtcaagtg gcaggatgac actgggcccc
     1801 ccatggacaa gtctgatctg ggccagaagc ggacttcggg ggctgtctgc caccaggacc
     1861 ccaggacctg cgaggagcca gcctccagcg gtgcccacat ctggcccgat gacatcacta
     1921 agtggccgat ctgcacagag caggccagga gcaaccacac aggcttcctg cacatggact
     1981 gcgagatcaa gggccgcccc tgctgcatcg gcaccaaggg cagctgtgag atcaccaccc
     2041 gggaatactg tgagttcatg cacggctatt tccatgagga agcaacactc tgctcccagg
     2101 tgcactgctt ggacaaggtg tgtgggctgc tgcccttcct caaccctgag gtcccagatc
     2161 agttctacag gctctggctg tctctcttcc tacatgctgg cgtggtgcac tgcctcgtgt
     2221 ctgtggtctt tcaaatgacc atcctgaggg acctggagaa gctggccggc tggcaccgta
     2281 tcgccatcat cttcatcctc agtggcatca caggcaacct cgccagtgcc atctttctcc
     2341 cataccgggc agaggtgggc ccggccggct cacagttcgg cctcctcgcc tgcctcttcg
     2401 tggagctctt ccagagctgg ccgctgctgg agaggccctg gaaggccttc ctcaacctct
     2461 cggccatcgt gctcttcctg ttcatctgtg gcctcctgcc ctggatcgac aacatcgccc
     2521 acatcttcgg cttcctcagt ggcctgctgc tggccttcgc cttcctgccc tacatcacct
     2581 tcggcaccag cgacaagtac cgcaagcggg cactcatcct ggtgtcactg ctggcctttg
     2641 ccggcctctt cgccgccctc gtgctgtggc tgtacatcta ccccattaac tggccctgga
     2701 tcgagcacct cacctgcttc cccttcacca gccgcttctg cgagaagtat gagctggacc
     2761 aggtgctgca ctgaccgctg ggccacacgg ctgcccctca gccctgctgg aacagggtct
     2821 gcctgcgagg gctgccctct gcagagcgct ctctgtgtgc cagagagcca gagacccaag
     2881 acagggcccg ggctctggac ctgggtgccc ccctgccagg cgaggctgac tccgcgtgag
     2941 atggttggtt aaggcggggt ttttctgggg cgtgaggcct gtgagatcct gacccaagct
     3001 caggcacacc caaggcacct gcctctctga gtcttgggtc tcagttccta atatcccgct
     3061 ccttgctgag accatctcct ggggcagggt ccttttcttc ccaggtcctc agcgctgcct
     3121 ctgctggtgc cttctccccc actactactg gagcgtgccc ttgctgggga cgtggctgtg
     3181 ccctcagttg cccccagggc tgggtgccca ccatgcccct tcctctttct cctcctacct
     3241 ctgccctgtg agcccatcca taaggctctc agatgggaca ttgtgggaaa ggctttggcc
     3301 atggtctggg ggcagagaac aaggggggag acacaagtag acctcaggta gaacgacact
     3361 gggcggagcc accccagggc ctgctcccag ggagtgctcg aggcgcatca ggcccgtttt
     3421 ttaccagttt atatcacggt cttcattttt aaaagtaacg ctaactttgt acggacgatg
     3481 tctcatggat taaataatat tctttatggc a
//
LOCUS       NM_001005499             939 bp    mRNA    linear   PRI 14-FEB-2021
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily C member 70
            (OR6C70), mRNA.
ACCESSION   NM_001005499
VERSION     NM_001005499.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and
            Mollon JD.
  TITLE     Variants in the 1q21 risk region are associated with a visual
            endophenotype of autism and schizophrenia
  JOURNAL   Genes Brain Behav 13 (2), 144-151 (2014)
   PUBMED   24152035
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327335.4/ ENSP00000329153.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC122685.9.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..939
                     /gene="OR6C70"
                     /note="olfactory receptor family 6 subfamily C member 70"
                     /db_xref="GeneID:390327"
                     /db_xref="HGNC:HGNC:31299"
     CDS             1..939
                     /gene="OR6C70"
                     /codon_start=1
                     /product="olfactory receptor 6C70"
                     /protein_id="NP_001005499.1"
                     /db_xref="CCDS:CCDS31825.1"
                     /db_xref="GeneID:390327"
                     /db_xref="HGNC:HGNC:31299"
                     /translation="MKNHTRQIEFILLGLTDNSQLQIVIFLFLLLNCVLSMIGNFTIIA
                     LILLDSQLKTPMYFFLRNFSFLEISFTTACIPRFLITIVTREKTISCNGCISQLFFYIF
                     LGVTEFFLLAALSYDRYVAICKPLRYMSIMSNKVCYQLVFSSWVTGFLIIFTPLILGLN
                     LDFCASNIIDHFICDISLILQLSCSDTHLLELIAFLLAVMTLIVTLFLVILSYSYIIKT
                     ILKFPSAQQKKKAFSTCSSHMIVVSITYGSCMFIYIKPSANERVALSKGVTVLNTSVAP
                     LLNPFIYTLRNQQVKQAFKAVFRKIFSASDK"
     misc_feature    7..9
                     /gene="OR6C70"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NIJ9.1); glycosylation site"
     misc_feature    67..129
                     /gene="OR6C70"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NIJ9.1);
                     transmembrane region"
     misc_feature    190..252
                     /gene="OR6C70"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NIJ9.1);
                     transmembrane region"
     misc_feature    286..348
                     /gene="OR6C70"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NIJ9.1);
                     transmembrane region"
     misc_feature    424..486
                     /gene="OR6C70"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NIJ9.1);
                     transmembrane region"
     misc_feature    583..645
                     /gene="OR6C70"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NIJ9.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR6C70"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NIJ9.1);
                     transmembrane region"
     misc_feature    817..870
                     /gene="OR6C70"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NIJ9.1);
                     transmembrane region"
ORIGIN
        1 atgaagaatc atacaaggca gatagaattt attcttctgg gactgacgga taattctcag
       61 ttacagattg taattttctt atttctactt ctaaattgtg tgttgagcat gatagggaac
      121 ttcactatca ttgccctcat tctgctggat tcccagctca agactccaat gtatttcttc
      181 ctccgtaatt tctcttttct ggaaatttca ttcacaactg cttgcattcc cagattccta
      241 atcaccattg ttaccaggga aaagaccatt tcctgtaatg gttgcatatc tcagttgttt
      301 ttttacatat tcttgggggt tacagaattt ttccttctag ctgctctgtc ctatgatcgc
      361 tatgttgcca tctgcaaacc tttgcgttat atgtccatca tgagtaacaa agtttgctac
      421 cagcttgtat tcagttcttg ggtaactgga ttcctgatca ttttcactcc actgatttta
      481 ggtcttaact tggatttctg tgcttcaaat atcattgatc atttcatttg tgacatttct
      541 cttatcctac aactttcttg ctcagacaca catttactgg aactgattgc ctttttatta
      601 gctgtgatga cacttattgt cacattgttt ttagtaatcc tttcttactc ttacatcatc
      661 aagacaattc tgaaattccc ttcagctcag caaaagaaga aagccttttc cacctgctct
      721 tctcacatga ttgttgtctc catcacttat ggtagttgta tgtttatcta cataaagcca
      781 tcagcgaatg aaagagttgc tttaagcaaa ggagtaactg tgctcaatac ttcagttgcc
      841 ccgttgttaa acccatttat ttatactctg aggaatcagc aagttaaaca agccttcaaa
      901 gctgtattta gaaagatatt ttctgcttca gacaagtaa
//
LOCUS       NM_001005500            3493 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily M member 1
            (OR4M1), mRNA.
ACCESSION   NM_001005500
VERSION     NM_001005500.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3493)
  AUTHORS   Ovali MA and Bozgeyik I.
  TITLE     Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by
            the FBN1 Gene, in Health and Disease
  JOURNAL   Mol Syndromol 13 (3), 175-183 (2022)
   PUBMED   35707591
  REMARK    GeneRIF: Asprosin is a key regulatory factor for preserving the
            homeostasis of energy metabolism. Asprosin promotes hepatic glucose
            release in the liver and appetite stimulation in the hypothalamus
            through activation of the cAMP signaling circuitry through
            interacting with its G protein-coupled receptor, called OR4M1. In
            this review, we discuss the current literature on asprosin and its
            receptor, OR4M1. Review article
REFERENCE   2  (bases 1 to 3493)
  AUTHORS   Li E, Shan H, Chen L, Long A, Zhang Y, Liu Y, Jia L, Wei F, Han J,
            Li T, Liu X, Deng H and Wang Y.
  TITLE     OLFR734 Mediates Glucose Metabolism as a Receptor of Asprosin
  JOURNAL   Cell Metab 30 (2), 319-328 (2019)
   PUBMED   31230984
REFERENCE   3  (bases 1 to 3493)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641200.1/ ENSP00000492985.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL512310.4.
            On Aug 13, 2020 this sequence version replaced NM_001005500.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..3493
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..3493
                     /gene="OR4M1"
                     /gene_synonym="OLFR734; OR14-7"
                     /note="olfactory receptor family 4 subfamily M member 1"
                     /db_xref="GeneID:441670"
                     /db_xref="HGNC:HGNC:14735"
                     /db_xref="MIM:619939"
     misc_feature    108..110
                     /gene="OR4M1"
                     /gene_synonym="OLFR734; OR14-7"
                     /note="upstream in-frame stop codon"
     CDS             120..1061
                     /gene="OR4M1"
                     /gene_synonym="OLFR734; OR14-7"
                     /note="olfactory receptor OR14-7"
                     /codon_start=1
                     /product="olfactory receptor 4M1"
                     /protein_id="NP_001005500.1"
                     /db_xref="CCDS:CCDS32021.1"
                     /db_xref="GeneID:441670"
                     /db_xref="HGNC:HGNC:14735"
                     /db_xref="MIM:619939"
                     /translation="METANYTKVTEFVLTGLSQTREVQLVLFVIFLSFYLFILPGNILI
                     ICTIRLDPHLTSPMYFLLANLALLDIWYSSITAPKMLIDFFVERKIISFGGCIAQLFFL
                     HFVGASEMFLLTVMAYDRYAAICRPLHYATIMNRRLCCILVALSWMGGFIHSIIQVALI
                     VRLPFCGPNELDSYFCDITQVVRIACANTFPEELVMICSSGLISVVCFIALLMSYAFLL
                     ALLKKHSGSGENTNRAMSTCYSHITIVVLMFGPSIYIYARPFDSFSLDKVVSVFHTVIF
                     PLLNPIIYTLRNKEVKAAMRKVVTKYILCEEK"
     misc_feature    132..134
                     /gene="OR4M1"
                     /gene_synonym="OLFR734; OR14-7"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGD0.1); glycosylation site"
     misc_feature    195..266
                     /gene="OR4M1"
                     /gene_synonym="OLFR734; OR14-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD0.1);
                     transmembrane region"
     misc_feature    291..356
                     /gene="OR4M1"
                     /gene_synonym="OLFR734; OR14-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD0.1);
                     transmembrane region"
     misc_feature    420..479
                     /gene="OR4M1"
                     /gene_synonym="OLFR734; OR14-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD0.1);
                     transmembrane region"
     misc_feature    537..593
                     /gene="OR4M1"
                     /gene_synonym="OLFR734; OR14-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD0.1);
                     transmembrane region"
     misc_feature    705..776
                     /gene="OR4M1"
                     /gene_synonym="OLFR734; OR14-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD0.1);
                     transmembrane region"
     misc_feature    831..899
                     /gene="OR4M1"
                     /gene_synonym="OLFR734; OR14-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD0.1);
                     transmembrane region"
     misc_feature    933..992
                     /gene="OR4M1"
                     /gene_synonym="OLFR734; OR14-7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD0.1);
                     transmembrane region"
ORIGIN
        1 ggataaagtc ctccactgtg ggtggtggaa gaggcttctt ctacctcctc cccatagttc
       61 ctgaaggcac caagactgtc acagtaattg ttatattatg aaaagagtaa attgaagaaa
      121 tggaaactgc aaattacacc aaggtgacag aatttgttct cactggccta tcccagactc
      181 gggaggtcca actagtccta tttgttatat ttctatcctt ctatttgttc atcctaccag
      241 gaaatatcct tatcatttgc accatcaggc tagaccctca tctgacttct cctatgtatt
      301 tcctgttggc taatctggcc ctccttgata tttggtactc ttccattaca gcccctaaaa
      361 tgctcataga cttctttgtg gagaggaaga taatttcctt tggtggatgc attgcacagc
      421 tcttcttctt acactttgtt ggggcttcgg agatgttctt gctcacagtg atggcctatg
      481 accgctatgc tgctatctgc cgacccctcc actatgctac catcatgaat cgacgtctct
      541 gctgtatcct ggtggctctc tcctggatgg ggggcttcat tcattctata atacaggtgg
      601 ctctcattgt tcgacttcct ttctgtgggc ccaatgagtt agacagttac ttctgtgaca
      661 tcacacaggt tgtccggatt gcctgtgcca acaccttccc agaggagtta gtgatgatct
      721 gtagtagtgg tctgatctct gtggtgtgtt tcattgctct gttaatgtcc tatgccttcc
      781 ttctggcctt gctcaagaaa cattcaggct caggtgagaa taccaacagg gccatgtcca
      841 cctgctattc ccacattacc attgtggtgc taatgtttgg gccatccatc tacatttatg
      901 ctcgcccatt tgactcattt tccctagata aagtggtgtc tgtgtttcat actgtaatat
      961 tccctttact taatcccatt atttacacat tgagaaacaa ggaagtaaag gcagccatga
     1021 ggaaggtggt caccaaatat attttgtgtg aagagaagtg aaagataaat tatacatttt
     1081 atagtcctcc tgaggatcat tgtcctaaag caggaagtat ttgcagtaat aatgctgcat
     1141 tcacttcctc cgttcatttg tgttcttaaa attttactat aatttttctc tattaattcc
     1201 tctttatatt gaaaaaatag aggcattaag atgaaaataa atttactcac acctaccctg
     1261 aaattccagg cagatcatta ttagaatttg agatataata ataatctgct aaagtacatt
     1321 ttaactaatt gtttattgag taactactct gcagaggctc tggctttgag gggaacatgt
     1381 tgataaaaat aaataagaca tggagacgtg tccattacaa atatgaagta aatggcaagc
     1441 atatggatgc agctagcttc aagttagcaa ataaatattg tcaagtttca gtgttggctc
     1501 agtggaatgg tatctggtaa acatcttgct gggtctggaa aaacagatta tttgtccttt
     1561 atctcctctt atttccagag ttgatggaaa atgaggattc atttatagaa ggtatttcag
     1621 tttatatttc aggtggtgtc cattcaacag ttggagacag aactcaaaat tttatcacat
     1681 tatgaaaaca aattttatga attcaaagca gagtataatt tggctgatac atgagattca
     1741 tgtcattcca gatgaagcct ccaggcaact agcaattttt atagccagtc cctacttaca
     1801 tccttcagag tgaaagcagg cttggggaga aagcttctag gttgactgga attggtagac
     1861 atctagccgt gtagtttttt tctaaactat catctccttt gccacttttg tatgttttcc
     1921 gtaattgcta atcctgcctc tcatgttaaa cttaaattgg ttaggtgctg tttttgttag
     1981 cgcttaattc agagttattt cccattgaga gacctggatg tgttggttcc catgatccct
     2041 tagagaatta ttagggactg atttcctatt ttcaagcact aaaaactcac tctccaagct
     2101 tctgaatgta agaggtagat tagaacattt gattttatag gttatgtttt ttacttaaat
     2161 ttattagttt ttcatttcaa aactaggaaa tattttcatt gaagggcaag aatgcattgg
     2221 gtgtattaag ctttagtctt cttttttaaa tttgataatg taatatggac taaattttaa
     2281 gtgaattaga tccttgtcaa cattaggaat gaatatataa aaataaatcg tataactatt
     2341 cctagagtta ctatttattt acagagattt atttattaat tgaggaggta atttatgcca
     2401 gacccagtgt acctcggatg cacaggatgg aatggtggta cacaaagctt gttttttgct
     2461 ttgggaattt ttccttatgg tgaccttctt cgatcttcaa tgctacgtta cttctcttct
     2521 aggaacccaa aggcatggat tgatgttatg agtcctgatt tttgagttga cttctcatca
     2581 cctggaagtg aataaagcag tagacttctc taacattttg taacacagca tgaaaaaata
     2641 taaagtacaa aagatatata tatataatat gataaaatga tgagttatgt ttctaaatct
     2701 tttatcatct tactgtcatt tctctgtatt tgatctagcc agacttctat tcattttgtc
     2761 acttatcttt catcaaacta gggctgatgt tctttggaaa gggaccactg atttgatatg
     2821 ctcttcaaac accagcacac tgtactacag aaggatattt actgaaaata ctgaagctag
     2881 taatacaaag gaaaaaggca taaaaacagt agtgtgataa ctaattgctt acttgggaat
     2941 attatctgaa attagaaact aatatcaatg aagaaaaagg ggaacttttg gcaaactcta
     3001 gtaagtaata actgagcctg attcatggag gacataattg gaataaggac tgagagcaat
     3061 ttcacccctt ggaggacatt tggaagtgcc cagagacatt tgtggtggtc acaactgagg
     3121 acgtatattg gcatcttgta ctatttagac atcttacaat gcacaggaca gcccccagcc
     3181 cctgactccc acatgaatta tctggcccaa aatgtcaata gtgccgagaa tgaagaactc
     3241 catcaggttg agaaactctg acttaaataa tgggcaggga taaggcaggt tagtgtagaa
     3301 gaaataggtg ttaacctcat atgcaatgtt gtgtcattga atattgtttc caaatagctc
     3361 agtatcctca gcaatcacat acaaaatatg cctcaggact ccttttccct atataactcc
     3421 tacattttct ttcagttact tttaaatgtc ttttaatctc tttttttctt tcagtctctc
     3481 ctagtcctcc ttc
//
LOCUS       NM_001005501            8681 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily K member 2
            (OR4K2), mRNA.
ACCESSION   NM_001005501
VERSION     NM_001005501.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8681)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 8681)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2148874
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641885.1/ ENSP00000493007.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL391156.3.
            On Aug 7, 2020 this sequence version replaced NM_001005501.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8681
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..8681
                     /gene="OR4K2"
                     /gene_synonym="OR14-15"
                     /note="olfactory receptor family 4 subfamily K member 2"
                     /db_xref="GeneID:390431"
                     /db_xref="HGNC:HGNC:14728"
     misc_feature    1005..1007
                     /gene="OR4K2"
                     /gene_synonym="OR14-15"
                     /note="upstream in-frame stop codon"
     CDS             1017..1961
                     /gene="OR4K2"
                     /gene_synonym="OR14-15"
                     /note="olfactory receptor OR14-15"
                     /codon_start=1
                     /product="olfactory receptor 4K2"
                     /protein_id="NP_001005501.1"
                     /db_xref="CCDS:CCDS32023.1"
                     /db_xref="GeneID:390431"
                     /db_xref="HGNC:HGNC:14728"
                     /translation="MDVGNKSTMSEFVLLGLSNSWELQMFFFMVFSLLYVATMVGNSLI
                     VITVIVDPHLHSPMYFLLTNLSIIDMSLASFATPKMITDYLTGHKTISFDGCLTQIFFL
                     HLFTGTEIILLMAMSFDRYIAICKPLHYASVISPQVCVALVVASWIMGVMHSMSQVIFA
                     LTLPFCGPYEVDSFFCDLPVVFQLACVDTYVLGLFMISTSGIIALSCFIVLFNSYVIVL
                     VTVKHHSSRGSSKALSTCTAHFIVVFLFFGPCIFIYMWPLSSFLTDKILSVFYTIFTPT
                     LNPIIYTLRNQEVKIAMRKLKNRFLNFNKAMPS"
     misc_feature    1029..1031
                     /gene="OR4K2"
                     /gene_synonym="OR14-15"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NGD2.1); glycosylation site"
     misc_feature    1092..1163
                     /gene="OR4K2"
                     /gene_synonym="OR14-15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD2.1);
                     transmembrane region"
     misc_feature    1188..1253
                     /gene="OR4K2"
                     /gene_synonym="OR14-15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD2.1);
                     transmembrane region"
     misc_feature    1317..1376
                     /gene="OR4K2"
                     /gene_synonym="OR14-15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD2.1);
                     transmembrane region"
     misc_feature    1434..1490
                     /gene="OR4K2"
                     /gene_synonym="OR14-15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD2.1);
                     transmembrane region"
     misc_feature    1602..1673
                     /gene="OR4K2"
                     /gene_synonym="OR14-15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD2.1);
                     transmembrane region"
     misc_feature    1722..1790
                     /gene="OR4K2"
                     /gene_synonym="OR14-15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD2.1);
                     transmembrane region"
     misc_feature    1824..1883
                     /gene="OR4K2"
                     /gene_synonym="OR14-15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NGD2.1);
                     transmembrane region"
ORIGIN
        1 gtccctacaa catccatttt atccacagct gatacacaac taatgattca actaggtcat
       61 ttatttatat tttaaattgc cttcgatgct ctgtcagaag cctacttaac actgaataat
      121 ctaaagccct ggttcttcta tagatctgat aagtaaaagt gttttacaaa tgagttctac
      181 tgaaatattt taaatgtttg cccttcccac tcccatttcc taatccctat tccatgaagc
      241 ttaggtcaat acaacagttt acatatgtta acatttacag aagaagaatt caaacagagg
      301 tgaaatgaaa gagactgatc tttgagcact ttcccatgaa aatgttgtta tatatccttt
      361 gtgatataaa attttaaatc atagaattat aaatatttat aaggaacaca gtcatatttt
      421 aattaaaaag aaaggaccaa aagaagttaa atgcctttcc tttgtctgta tgactgtatt
      481 gtaataaatt agtctctctg gatgaatatc agcaaaacta actttctatg tatttctttt
      541 gagtttcaaa caggaaactt tatctgggaa tactttaaca gttcatctct ggaaatttac
      601 aagagctcta caactgtcca tcgaaacttc actataatgt gcttaagagc ccttatatgt
      661 gatataattt ttatatgttt tcatcagtaa ggatatcttt atggacaaat tccaaatgac
      721 taaacatgta tgtgtatgtg tgtttcacac attgtcagca taaagtaagt tcttactgtt
      781 atcgttagac ttacacagat gaatagatgg acaaataggt aggtatgtct gttcagaatg
      841 atattatctt ggttggattg ccattagtat cagaaaagaa agtgttcttt tcaataccta
      901 tgatttaagg aacattttgc tataagctct aatatttcat aatttccatt caaaacaata
      961 taccaaatga gaaggatgga aagaatagtc aaggcttctg cctatgaatc aagacaatgg
     1021 atgtgggcaa taagtctacc atgtctgaat ttgttttgct ggggctctct aattcctggg
     1081 aactacagat gtttttcttt atggtgtttt cattgcttta tgtggcaaca atggtgggta
     1141 acagcctcat agtcatcaca gttatagtgg accctcacct acactctcct atgtatttcc
     1201 tgcttaccaa tctttcaatc attgatatgt ctcttgcttc tttcgccacc ccaaagatga
     1261 ttacagatta cctaacaggt cacaaaacca tctcttttga tggctgcctt acccagatat
     1321 tctttctcca ccttttcact ggaactgaga tcatcttact catggccatg tcctttgata
     1381 ggtatattgc aatatgcaag cccctgcact atgcttctgt cattagtccc caggtgtgtg
     1441 ttgctctcgt ggtggcttcc tggattatgg gagttatgca ttcaatgagt caggtcatat
     1501 ttgccctcac gttaccattc tgtggtccct atgaggtaga cagctttttc tgtgaccttc
     1561 ctgtggtgtt ccagttggct tgtgtggata cttatgttct gggcctcttt atgatctcaa
     1621 caagtggcat aattgcgttg tcctgtttta ttgttttatt taattcatat gttattgtcc
     1681 tggttactgt gaagcatcat tcttccagag gatcatctaa ggccctttct acttgtacag
     1741 ctcatttcat tgttgtcttc ttgttctttg ggccatgcat cttcatctac atgtggccac
     1801 taagcagctt tctcacagac aagattctgt ctgtgtttta taccatcttt actcccactc
     1861 tgaacccaat aatctatact ttgaggaatc aagaagtaaa gatagccatg aggaaactga
     1921 aaaataggtt tctaaatttt aataaggcaa tgccttcata gtttttgtga cacagaacat
     1981 tagacacaat gctgtgttag gcttttcttt ctagagggtt cttaccaaat tgtaattgcc
     2041 aagaatttgt gagggctcaa gttcagtgca ttttgaaact attctcatga atgtgaatgt
     2101 gttcaaaata catttgaaat ttcagaaaag caagttaaaa gaaataaaga ctataaaaat
     2161 gtcaggagtg acagttccag ttaggacatt caatatcaat aatcaattta ttggaaaaga
     2221 ggaccaagga atgaggagaa gaaatataga ttaaagcaga actaggagat aatgacaatt
     2281 acccacagtg agcaactgag tcacttagtg agatgctcct aaagtatgac aagctagcaa
     2341 gattcctata atccttagga actccatact gctgtaggat cttagcctct gacagagaag
     2401 caatgatttt ccacatacgt tcccaagcca ctcctactta acatttaaac caatttgtga
     2461 tctcttctat taaagaaaac tctagatata ttttatttcg aatgttaatg acgtccataa
     2521 aattgccgta agtgtagcaa tctttaccaa ccacttttag ttcatcatca aagcaataca
     2581 gtcatgatat ttctttctga taatgcggaa tgagtaggga ggctggagaa ttctgcaaat
     2641 cagaaaatat gaaatgagtt gcagatcagt acactttgtt ttgtgcagac acgatggttg
     2701 cttagttcct aagaagttaa aactagaatt gagagacaca gtttataaca gttgaattta
     2761 tggggagtcc atgctttcat tttaaagtgt tatattgctt tccattttgg ttattttttt
     2821 cttgaaatat ttggatgtaa aaataatgaa tctgcattta gtaatacatt gtcaatgtaa
     2881 taagtatgtt tttgtacaca aataggtttt attactgtta taaataaatc tggtaggttc
     2941 aatattagct ttaatgtata caaagtatta ctaccacctg ctggtactaa ctggaattgc
     3001 aagtattgaa agaggaaaaa taattgtgta taccctactt tgcaaatcat ctttaaatga
     3061 tggcaaacat tcatgagtta actcttattt agaattttct aaatgatatt gataaaatat
     3121 agtgtcttat atatgatcca acatgtatcc acaaagggaa agatatgttg caaccacagt
     3181 atttgataat atcaagttgt tattttctgg tatgattgag taaatggaga aaacaaatga
     3241 aatgcattaa ttatcattta tgaaagataa ttaaaacaga aaatccttag atgttcatat
     3301 taaaccaagt tataaaagga atttattttt tcttcatcag tttgtgtttt atttcttcat
     3361 taatgtacta agcaaataag gaaaaaactt acagcttgaa agtctgtgat actgtgttta
     3421 aagcctgagc agttttgaaa ttattagata ataacgtcta cagtattaac ataaaataaa
     3481 acatgcttct gtaagcacaa gattagcata attctatttt aaatagggat acaaataggc
     3541 caatttaggt tttgagtgtg aactttctct tggttgcagt tatatgtaca aatatgttca
     3601 tattcaagga cttcgtttat gtagaatgtt ttagctggtg cttaaaaatg ctagaaataa
     3661 ttcttttact tgacatattt ctttgtccag ggaatatttt caaaactgtg ctgctttttg
     3721 caatataaaa ctgtggaatc ttttggaaga gacgctattg attttctgtg cttttgtgga
     3781 gaattctaaa actcaagaac atttgccaaa ataccctcaa aggtgtagct gatcagcaga
     3841 caactctata aggcaagtca ataatgagat taagtagttg gattgatagt aaaattctgt
     3901 ggctgataat aaaaaggatt acagaaagcc tttggagggc ttacatatat aaatggaact
     3961 atcacatttc tcggtggctt agtgtgagga gtcaatattc atggtacctc tgcatgttat
     4021 ataaacactt aaaaatctta gttaggactt taggactcat ggtggttggt tttatcgata
     4081 tatctcttag acaagatgct gacactcttt caccaaggat aactgcagtg acatggccat
     4141 ggactcgtta agcaatagta aggatggtgc cagctgccac cagagtttcc agagacagag
     4201 ataatgttct gcagagaata caagataagc aggcaagtat aattttaagt gatctgcact
     4261 atctgcaata acacaactga gggagttctg gagcatttat aagaagagtg tgttgacaag
     4321 caacttcatc ttcctctacg tgtttaggaa gctgtgaagc ttgacaacaa ttgaatgcag
     4381 atggaaaaac tgttaaaaat caggtataga taaaaacaga taaagtgtaa attttaatat
     4441 gtgaaggaac tggatatatg taatagcaat aaaaactaca aattatgttt gtttctaaaa
     4501 atgcttaaga aaacttttag aatactatat ggtataatga tggtggattt accataaagc
     4561 ttgtaaagct taggttttat aactcctcct ttgcatggat ttcctcgaag gccctagaat
     4621 ggaaactaac aaccttttat tagttatttc gatttttttt tcctgaaaca ggtgtcctca
     4681 aactgtataa gctttaagcc tagcttgtcc aacccatgac ctgcaggttg catgcggctc
     4741 aggagatggc tttaaattca gcccaacaca aattcataag ctttcttgaa acattataag
     4801 attttcttgt gatttttttg taaagctcat cagctatctt tagtatcagt gtattttatg
     4861 tgtggcccaa cacaattctt cttccaatgt ggcccagaga agccaaaact ttggacaccc
     4921 ctgcattaaa aggctctgca gaatctgaag tctaatgtgt agttttaaaa gtcttagact
     4981 ctggtatctt tttttttttt aaacagtgtt taatactact tctactacta gtggtgtaaa
     5041 cttaagctaa gtacttaata cctcttagcc tcagtttcta catatgttaa aggagataat
     5101 agtggtctct acaccacaga gttatttgag gcataaaaga agcaaataat atgaagcata
     5161 tggttgtcaa taaatgttag tcattgtatc attctgggtg ataacctctg gatatctttg
     5221 tttatgggac ttgatagtct cttgagctaa cacttgactt gtttaattta aaaggtaaat
     5281 tttcatttat atgttttaaa tattcatgtc tgtatatgtg tgtcagtatt aatttgaaaa
     5341 attaaaagta acttccacta gaaaattaca ctggttctta cattaattaa agcttctgga
     5401 aacttgtttt tctgtctgtt cacaactgtc attaatcaag agaagtatca agttgttgct
     5461 taatcattat gctattgctt ctttacaatg aataaatatt aaattggttt attgatttta
     5521 ggatgaattc acattacaat tgttgtcaga ataagaatga tgtttgactc atattattaa
     5581 ggtgaagaga taggcagatg gatagattag tagatagatg aagttttgta ttatatgagc
     5641 tgtcttatgt gaagtatttt tctgcattga taagggttta ggataatgtg atcactggat
     5701 tatgctgcta tatagaagtt cttggtaaaa tgctgttatt tgtgcatatc cagactcctt
     5761 atgaaagtat tttcaaattt aaaaaactac cagtgaatct attctctaca tgtgagtttt
     5821 taaacaactc agttatagca aaatttgttg agagagttgg agtaatcctc ctatttccct
     5881 attctttccc tgatattatt ttgcatgatt tttggatgta tatgtcaatt gaaaaacggg
     5941 gagaagaaaa cagccaggga aatctaattc atgtgaactt cttgcatgta ctctcagatg
     6001 ccaatgaaat ccgctaagca acttgatagt tttttggttt ataagtttct gttgtgcttt
     6061 gttgtttgga attattttta atgctcttgg ttacaccatg aggtaaatat gcacaaatta
     6121 ttctggagcg tgtaggacca acactcaaat gagactggaa atgtgactgg gatcattgat
     6181 tcatgtattc tgtctctatt gttgctaata taactcaatt gacatgttat tttttctctt
     6241 tgatttttgt aaaacaaaca aataaattcc aatatctagt atgcactaaa atactatagt
     6301 ttcattttta ttttttactc tgataattta cactgccaat ataaggagat gaatacctat
     6361 tttttaaatt aaaaaatgtt ctcgggctgg aggctccagg tttttttccc ccattagcct
     6421 ttttatgact actaaatgca agaccactgt taattcgcct tttttctttg tgttttaact
     6481 gtactaggaa tctgaagcca tcaacaaaag ccagattttt ctccctttgc tcacttgcca
     6541 cctgttaaag aaaatttaaa ggagagattt ttttttttag tttgagacta gaaatagcaa
     6601 tttaattagt aatttgtttt tatataataa tatatttata tcaatttttt cttcttgttt
     6661 gagtgtactt atattggttg tcctacagtt aagaaaacgg aaaccattgg gtaaattaag
     6721 cagatttaat acaatgtatt aaatgcttgt gaataattca aagacttaca ggaacatgca
     6781 ttggaggctg caactggagc tattgtgttc cagagcacat taccccagta atgtgatgta
     6841 agggcaaaag gcaaaaagcc ttggtgtcat tgccactcct tcatcaccct cagcactctt
     6901 gaaggtggtg aatagtcact ggacacaggt atggctgcca cagttgcttt ccctcacatc
     6961 tcatcatcat cttgctcacc agcggcaatt atatcagtag atccctctgc ctcacttgtg
     7021 ctttctaaag ctcatttggt gcatctaatt ggtggaatct attttgcaca gagaaacttg
     7081 gcttcaaaaa tcaatttgta gatttcaaga ttcttatgca acagaaaaca tgctaataga
     7141 gggtggattg gagggagact ccgtcaatca atcaatatcc attactttaa tttttttatt
     7201 ataacctttt tattgcagtg taaaagcaag gtaaagaaaa atacacaaac atgtttagct
     7261 taatgaaata ttacaaggca aacaccatta taatcacatt tcaagtcaca aaatagaact
     7321 tcgccagcca cccctgaagt cctcaagttt gttcatctcg atgacaactc tctcctccaa
     7381 aattaaccat taccctgact taataaatta tttgcatttc ttttcagttt catgaataca
     7441 tatatactca aatatacatc catacacact caaacttggc ctcaccaact ttgtttcctt
     7501 ttcttgtagc ctacaagtct cactatcact atctcttcaa tttctgtata atttatcttt
     7561 ctttttcttt tttttttctt tttttttttt ttttgagacg gagtcttgct ctgtcgccca
     7621 ggctggagtg cagtagcgtg atctccgctc attgcaaact ctgccttccg gattcacgcc
     7681 attctcctgc ctcagcctcc tgagtagctg ggactacagg cgcccgccac cacgcccagc
     7741 taattttttg tatttttagt agagaagggg ttataattta tcttttgaaa aacctgagtt
     7801 atttaccatc tagggtctcc cagagtctga aatatgctga ttgcatgctc atggtacagt
     7861 tcaacatgga cttctgtcac tgcattttct gcaaattgcc tatccagcag cttaatcata
     7921 tttagtttga tactttttgc aagacaaatg acagatgatg ttatattttt tcatccaaaa
     7981 gatcttgatg tcttgcttta tctctttggg aatgatagtg ctgttgttgc tgtagtagtt
     8041 gatatctcta accatttttg ttggctgaag cttattctct actatattcc tcaggaagtc
     8101 ttcttgaaga ccctattctc tgaattctgg cgtgttggca agtttctttg aaacatttat
     8161 gtactgtaat ttcattggct attcctttat tttcttgatt atcttaaatt gaaataatga
     8221 ctctctttgt aagcactttg tctggagtct gcaaagcctg tatttttctt cactcaccct
     8281 agcataccat ataattagaa gtttggaact gatcttttaa tttttggagg gaggtattaa
     8341 taatccttct gatatttata ttagtagtta aataattaaa tagtagttaa agtaattaaa
     8401 taggactcta ttgcactcaa gagattttaa aacgtttaaa tttctaaatt tcctttaagt
     8461 atattaaaat gtacctaaat aaaattgttc ttcaagagta acatgtaatt gaatcatcaa
     8521 catctttata taacttttcc aattttttaa agaaagatac ctctcttgca gctcaattgc
     8581 tttttaaata aaataaattt gaatccctgt ttgtacctgg agaccgtttt gatctgccct
     8641 cctcacctca catttcacac atggagaaaa aaagtctgca c
//
LOCUS       NM_001005504             939 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily F member 21
            (OR4F21), mRNA.
ACCESSION   NM_001005504
VERSION     NM_001005504.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320901.4/ ENSP00000318878.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131281.7.
            On Oct 9, 2004 this sequence version replaced XM_496941.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.3"
     gene            1..939
                     /gene="OR4F21"
                     /gene_synonym="OR4F21P"
                     /note="olfactory receptor family 4 subfamily F member 21"
                     /db_xref="GeneID:441308"
                     /db_xref="HGNC:HGNC:19583"
     CDS             1..939
                     /gene="OR4F21"
                     /gene_synonym="OR4F21P"
                     /note="olfactory receptor, family 4, subfamily F, member 21
                     pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 4F21"
                     /protein_id="NP_001005504.1"
                     /db_xref="CCDS:CCDS34792.1"
                     /db_xref="GeneID:441308"
                     /db_xref="HGNC:HGNC:19583"
                     /translation="MDGENHSVVSEFLFLGLTHSWEIQLLLLVFSSVLYVASITGNIFI
                     VFSVTTDPHLHSPMYFLLASLSFIDLGACSVTSPKMIYDLFRKRKVISFGGCIAQIFFI
                     HVIGGVEMVLLIAMAFDRYVALCKPLHYLTIMSPRMCLSFLAVAWTLGVSHSLFQLAFL
                     VNLAFCGPNVLDSFYCDLPRLLRLACTDTYRLQFMVTVNSGFICVGTFFILLISYVFIL
                     FTVWKHSSGGSSKALSTLSAHSTVVLLFFGPPMFVYTRPHPNSQMDKFLAIFDAVLTPF
                     LNPVVYTFRNKEMKAAIKRVCKQLVIYKKIS"
     misc_feature    13..15
                     /gene="OR4F21"
                     /gene_synonym="OR4F21P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O95013.2); glycosylation site"
     misc_feature    76..147
                     /gene="OR4F21"
                     /gene_synonym="OR4F21P"
                     /note="propagated from UniProtKB/Swiss-Prot (O95013.2);
                     transmembrane region"
     misc_feature    172..237
                     /gene="OR4F21"
                     /gene_synonym="OR4F21P"
                     /note="propagated from UniProtKB/Swiss-Prot (O95013.2);
                     transmembrane region"
     misc_feature    301..360
                     /gene="OR4F21"
                     /gene_synonym="OR4F21P"
                     /note="propagated from UniProtKB/Swiss-Prot (O95013.2);
                     transmembrane region"
     misc_feature    418..474
                     /gene="OR4F21"
                     /gene_synonym="OR4F21P"
                     /note="propagated from UniProtKB/Swiss-Prot (O95013.2);
                     transmembrane region"
     misc_feature    586..657
                     /gene="OR4F21"
                     /gene_synonym="OR4F21P"
                     /note="propagated from UniProtKB/Swiss-Prot (O95013.2);
                     transmembrane region"
     misc_feature    706..774
                     /gene="OR4F21"
                     /gene_synonym="OR4F21P"
                     /note="propagated from UniProtKB/Swiss-Prot (O95013.2);
                     transmembrane region"
     misc_feature    808..867
                     /gene="OR4F21"
                     /gene_synonym="OR4F21P"
                     /note="propagated from UniProtKB/Swiss-Prot (O95013.2);
                     transmembrane region"
ORIGIN
        1 atggatggag agaatcactc agtggtatct gagtttttgt ttctgggact cactcattca
       61 tgggagatcc agctcctcct cctagtgttt tcctctgtgc tctatgtggc aagcattact
      121 ggaaacatct tcattgtgtt ttctgtgacc actgaccctc acttacactc ccccatgtac
      181 tttctactgg ccagtctctc cttcattgac ttaggagcct gctctgtcac ttctcccaag
      241 atgatttatg acctgttcag aaagcgcaaa gtcatctcct ttggaggctg catcgctcaa
      301 atcttcttca tccacgtcat tggtggtgtg gagatggtgc tgctcatagc catggccttt
      361 gacagatatg tggccctatg taagcccctc cactatctga ccattatgag cccaagaatg
      421 tgcctttcat ttctggctgt tgcctggacc cttggtgtca gtcactccct gttccaactg
      481 gcatttcttg ttaatttagc cttctgtggc cctaatgtgt tggacagctt ctactgtgac
      541 cttcctcggc ttctcagact agcctgtacc gacacctaca gattgcagtt catggtcact
      601 gttaacagtg ggtttatctg tgtgggtact ttcttcatac ttctaatctc ctacgtcttc
      661 atcctgttta ctgtttggaa acattcctca ggtggttcat ccaaggccct ttccactctt
      721 tcagctcaca gcacagtggt ccttttgttc tttggtccac ccatgtttgt gtatacacgg
      781 ccacacccta attcacagat ggacaagttt ctggctattt ttgatgcagt tctcactcct
      841 tttctgaatc cagttgtcta tacattcagg aataaggaga tgaaggcagc aataaagaga
      901 gtatgcaaac agctagtgat ttacaagaag atctcataa
//
LOCUS       NM_001005512             930 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily A member 47
            (OR4A47), mRNA.
ACCESSION   NM_001005512
VERSION     NM_001005512.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 930)
  AUTHORS   Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V,
            MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG,
            Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ,
            Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E,
            Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell CE,
            van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R, Tay
            WT, Zheng Y, Chew M, Burdon KP, Craig JE, Iyengar SK, Igo RP Jr,
            Lass JH Jr, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J,
            Simpson CL, Wojciechowski R, Hohn R, Mirshahi A, Zeller T, Pfeiffer
            N, Lackner KJ, Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas
            L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini
            SM, Paterson AD, Makela KM, Lehtimaki T, Kahonen M, Raitakari O,
            Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MK, Meguro A,
            Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai ES, Fan Q, Xu
            L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A, Uitterlinden AG,
            Bencic G, Khor CC, Forward H, Parssinen O, Mitchell P, Rivadeneira
            F, Hewitt AW, Williams C, Oostra BA, Teo YY, Hammond CJ, Stambolian
            D, Mackey DA, Klaver CC, Wong TY, Saw SM and Baird PN.
  CONSRTM   Consortium for Refractive Error and Myopia; Fuchs' Genetics
            Multi-Center Study Group; Wellcome Trust Case Control Consortium 2;
            Diabetes Control and Complications Trial/Epidemiology of Diabetes
            Interventions, and Complications Research Group
  TITLE     Nine loci for ocular axial length identified through genome-wide
            association studies, including shared loci with refractive error
  JOURNAL   Am J Hum Genet 93 (2), 264-277 (2013)
   PUBMED   24144296
REFERENCE   2  (bases 1 to 930)
  AUTHORS   Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd
            C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E,
            Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K,
            Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC,
            Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES and
            Sakaki Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
REFERENCE   3  (bases 1 to 930)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   4  (bases 1 to 930)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000446524.2/ ENSP00000412752.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC134982.5.
            On Aug 18, 2007 this sequence version replaced NM_001005512.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on DNA alignments.
FEATURES             Location/Qualifiers
     source          1..930
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..930
                     /gene="OR4A47"
                     /gene_synonym="OR11-113"
                     /note="olfactory receptor family 4 subfamily A member 47"
                     /db_xref="GeneID:403253"
                     /db_xref="HGNC:HGNC:31266"
     CDS             1..930
                     /gene="OR4A47"
                     /gene_synonym="OR11-113"
                     /note="olfactory receptor OR11-113"
                     /codon_start=1
                     /product="olfactory receptor 4A47"
                     /protein_id="NP_001005512.2"
                     /db_xref="CCDS:CCDS31490.1"
                     /db_xref="GeneID:403253"
                     /db_xref="HGNC:HGNC:31266"
                     /translation="MEPRKNVTDFVLLGFTQNPKEQKVLFVMFLLFYILTMVGNLLIVV
                     TVTVSETLGSPMYFFLAGLSFIDIIYSSSISPRLISGLFFGNNSISFQSCMAQLFIEHI
                     FGGSEVFLLLVMAYDCYVAICKPLHYLVIMRQWVCVVLLVVSWVGGFLHSVFQLSIIYG
                     LPFCGPNVIDHFFCDMYPLLKLVCTDTHAIGLLVVANGGLACTIVFLLLLISYGVILHS
                     LKNLSQKGRQKALSTCSSHMTVVVFFFVPCIFMYARPARTFPIDKSVSVFYTVITPMLN
                     PLIYTLRNSEMTSAMKKLWRRDLISSST"
     misc_feature    16..18
                     /gene="OR4A47"
                     /gene_synonym="OR11-113"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6IF82.2); glycosylation site"
     misc_feature    70..141
                     /gene="OR4A47"
                     /gene_synonym="OR11-113"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF82.2);
                     transmembrane region"
     misc_feature    166..231
                     /gene="OR4A47"
                     /gene_synonym="OR11-113"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF82.2);
                     transmembrane region"
     misc_feature    259..261
                     /gene="OR4A47"
                     /gene_synonym="OR11-113"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6IF82.2); glycosylation site"
     misc_feature    295..354
                     /gene="OR4A47"
                     /gene_synonym="OR11-113"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF82.2);
                     transmembrane region"
     misc_feature    412..468
                     /gene="OR4A47"
                     /gene_synonym="OR11-113"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF82.2);
                     transmembrane region"
     misc_feature    580..651
                     /gene="OR4A47"
                     /gene_synonym="OR11-113"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF82.2);
                     transmembrane region"
     misc_feature    700..768
                     /gene="OR4A47"
                     /gene_synonym="OR11-113"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF82.2);
                     transmembrane region"
     misc_feature    802..861
                     /gene="OR4A47"
                     /gene_synonym="OR11-113"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IF82.2);
                     transmembrane region"
ORIGIN
        1 atggagccaa ggaaaaatgt gactgacttt gtcctcttgg gcttcacaca gaatccaaag
       61 gagcagaaag tactttttgt tatgttcttg ctcttctaca ttttgaccat ggtgggcaac
      121 ctgctcattg tagtgaccgt aactgtcagt gagaccctgg gctcaccaat gtacttcttt
      181 cttgctggct tatcatttat agatatcatt tattcttcat ccatttcccc cagattgatt
      241 tcaggcttgt tctttgggaa taattccata tccttccaat cttgcatggc ccagctcttt
      301 atcgagcaca ttttcggtgg gtcagaggtc tttctcctgt tggtgatggc ctatgactgc
      361 tatgtggcca tctgtaagcc cttgcattat ttggttatca tgagacaatg ggtgtgtgtt
      421 gtgctgctgg tagtgtcctg ggttggagga tttctgcact cagtatttca acttagcatt
      481 atttatgggc tcccattctg tggccccaat gtcattgatc attttttctg tgacatgtat
      541 cccttattga aactggtctg cactgacacc catgctattg gcctcttagt ggtggccaat
      601 ggaggactgg cttgcactat tgtgtttctg ctcttactca tctcttatgg tgtcatcttg
      661 cactctttaa agaaccttag tcagaaaggg aggcaaaaag ccctctcaac ctgcagttcc
      721 cacatgactg tggttgtctt cttctttgtt ccttgtattt ttatgtatgc tagacctgct
      781 aggaccttcc ccattgacaa atcagtgagt gtgttttata cagtcataac cccaatgctg
      841 aaccccttaa tctacactct gagaaattct gagatgacaa gtgctatgaa gaagctctgg
      901 agaagagacc tcatatcaag tagtacataa
//
LOCUS       NM_001005513             921 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens olfactory receptor family 4 subfamily C member 45
            (gene/pseudogene) (OR4C45), transcript variant 1, coding, mRNA.
ACCESSION   NM_001005513
VERSION     NM_001005513.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 921)
  AUTHORS   Smith NL, Huffman JE, Strachan DP, Huang J, Dehghan A, Trompet S,
            Lopez LM, Shin SY, Baumert J, Vitart V, Bis JC, Wild SH, Rumley A,
            Yang Q, Uitterlinden AG, Stott DJ, Davies G, Carter AM, Thorand B,
            Polasek O, McKnight B, Campbell H, Rudnicka AR, Chen MH, Buckley BM,
            Harris SE, Peters A, Pulanic D, Lumley T, de Craen AJ, Liewald DC,
            Gieger C, Campbell S, Ford I, Gow AJ, Luciano M, Porteous DJ, Guo X,
            Sattar N, Tenesa A, Cushman M, Slagboom PE, Visscher PM, Spector TD,
            Illig T, Rudan I, Bovill EG, Wright AF, McArdle WL, Tofler G, Hofman
            A, Westendorp RG, Starr JM, Grant PJ, Karakas M, Hastie ND, Psaty
            BM, Wilson JF, Lowe GD, O'Donnell CJ, Witteman JC, Jukema JW, Deary
            IJ, Soranzo N, Koenig W and Hayward C.
  TITLE     Genetic predictors of fibrin D-dimer levels in healthy adults
  JOURNAL   Circulation 123 (17), 1864-1872 (2011)
   PUBMED   21502573
REFERENCE   2  (bases 1 to 921)
  AUTHORS   Young JM, Endicott RM, Parghi SS, Walker M, Kidd JM and Trask BJ.
  TITLE     Extensive copy-number variation of the human olfactory receptor gene
            family
  JOURNAL   Am J Hum Genet 83 (2), 228-242 (2008)
   PUBMED   18674749
COMMENT     ##RefSeq-Attributes-START##
            polymorphic pseudogene :: based on alignments, homology
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC110057.3.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1, coding) represents the
            functional allele encoding the full-length protein.
FEATURES             Location/Qualifiers
     source          1..921
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.12"
     gene            1..921
                     /gene="OR4C45"
                     /note="olfactory receptor family 4 subfamily C member 45
                     (gene/pseudogene)"
                     /db_xref="GeneID:403257"
                     /db_xref="HGNC:HGNC:31270"
     CDS             1..921
                     /gene="OR4C45"
                     /note="olfactory receptor, family 4, subfamily C, member
                     45"
                     /codon_start=1
                     /product="olfactory receptor 4C45"
                     /protein_id="NP_001005513.1"
                     /db_xref="GeneID:403257"
                     /db_xref="HGNC:HGNC:31270"
                     /translation="MNNVTEFILLGLTHNPELQKFLFVMFLITYLITLAGNLLISVIIF
                     ISPALGSPMYLFLSYLSIIDIFYSSSIAPKMIFDLISENNTISFNGCMTQLFTEHFFAA
                     AETILLSVMAYDCYVAICKPLHYATIMTQSMCGFLMVVAGILGFVHGGIQTLFIAQLPF
                     CGPNVIDHFMCDLVPLLELACTDTHTLGPLIAANSGSLCFLIFSILDASYVIILCSLRS
                     HSSEGHLKALSSCASHIFTVILFFVPCSYLYLRPLTSFPTDKAVTVFCTLFTPMLNPLI
                     YTVKNKAVKNVIKKLWKQIMTTDDK"
     misc_feature    7..9
                     /gene="OR4C45"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NMZ5.2); glycosylation site"
     misc_feature    76..138
                     /gene="OR4C45"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMZ5.2);
                     transmembrane region"
     misc_feature    142..204
                     /gene="OR4C45"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMZ5.2);
                     transmembrane region"
     misc_feature    250..252
                     /gene="OR4C45"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NMZ5.2); glycosylation site"
     misc_feature    301..363
                     /gene="OR4C45"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMZ5.2);
                     transmembrane region"
     misc_feature    412..474
                     /gene="OR4C45"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMZ5.2);
                     transmembrane region"
     misc_feature    598..660
                     /gene="OR4C45"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMZ5.2);
                     transmembrane region"
     misc_feature    700..762
                     /gene="OR4C45"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMZ5.2);
                     transmembrane region"
     misc_feature    790..852
                     /gene="OR4C45"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMZ5.2);
                     transmembrane region"
ORIGIN
        1 atgaacaatg taacagaatt catcctgctg ggcctcactc acaatccaga actgcagaaa
       61 ttcctgtttg ttatgttttt aatcacctac ttgatcacac tggcaggtaa cctgctcatc
      121 tcagtcatca tcttcatcag cccagccctg ggttccccca tgtacctttt tctgtcctat
      181 ttatccatta tagatatttt ctactcttct tccatagccc ctaaaatgat ctttgacttg
      241 atctctgaaa acaacaccat atccttcaat ggctgcatga ctcagctctt cacagaacat
      301 ttctttgcgg cagctgagac catcttatta agtgtcatgg cctacgactg ctatgtggcc
      361 atctgtaagc ccttgcacta tgcaaccatc atgacccaat ctatgtgtgg attcctgatg
      421 gtggtggctg gaattctggg atttgtgcat ggaggaatcc agactttgtt catagcccag
      481 ttaccattct gtggccccaa tgtcatcgac cactttatgt gtgatttagt acctcttctg
      541 gagctggcct gcacagacac tcacacttta gggcctctga ttgctgccaa cagtgggtca
      601 ctgtgtttcc tcattttttc catactggat gcttcctatg tcatcatctt gtgctcccta
      661 aggtctcata gctctgaagg gcatctcaaa gctctgtcta gttgtgcctc tcatatcttc
      721 actgtcatct tattctttgt cccttgttca tacctgtatc taagacctct aacctccttc
      781 cccactgaca aagctgtgac tgtgttttgc accctattta cacctatgtt gaacccttta
      841 atctacactg tcaaaaataa agcagtgaaa aatgtcatta agaagctctg gaagcaaata
      901 atgacaactg atgataaata a
//
LOCUS       NM_001005514            7323 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily H member 14
            (OR5H14), mRNA.
ACCESSION   NM_001005514
VERSION     NM_001005514.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7323)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 7323)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641380.1/ ENSP00000493226.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC117460.7.
            On Aug 5, 2020 this sequence version replaced NM_001005514.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7323
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     gene            1..7323
                     /gene="OR5H14"
                     /note="olfactory receptor family 5 subfamily H member 14"
                     /db_xref="GeneID:403273"
                     /db_xref="HGNC:HGNC:31286"
     CDS             95..1027
                     /gene="OR5H14"
                     /note="seven transmembrane helix receptor"
                     /codon_start=1
                     /product="olfactory receptor 5H14"
                     /protein_id="NP_001005514.1"
                     /db_xref="CCDS:CCDS33798.1"
                     /db_xref="GeneID:403273"
                     /db_xref="HGNC:HGNC:31286"
                     /translation="MEEENATLLTEFVLTGFLYQPQWKIPLFLAFLVIYLITIMGNLGL
                     IAVIWKDPHLHIPMYLLLGNLAFVDALLSSSVTLKMLINFLAKSKMISLSECKIQLFSF
                     AISVTTECFLLATMAYDRYVAICKPLLYPAIMTNGLCIRLLILSYVGGLLHALIHEGFL
                     FRLTFCNSNIIQHFYCDIIPLLKISYTDSSINFLMVFIFAGSIQVFTIGTVLISYIFVL
                     YTILKKKSVKGMRKAFSTCGAHLLSVSLYYGPLAFMYMGSASPQADDQDMMESLFYTVI
                     VPLLNPMIYSLRNKQVIASFTKMFKRNDV"
     misc_feature    107..109
                     /gene="OR5H14"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NHG9.1); glycosylation site"
     misc_feature    179..241
                     /gene="OR5H14"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NHG9.1);
                     transmembrane region"
     misc_feature    263..325
                     /gene="OR5H14"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NHG9.1);
                     transmembrane region"
     misc_feature    389..451
                     /gene="OR5H14"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NHG9.1);
                     transmembrane region"
     misc_feature    524..586
                     /gene="OR5H14"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NHG9.1);
                     transmembrane region"
     misc_feature    680..742
                     /gene="OR5H14"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NHG9.1);
                     transmembrane region"
     misc_feature    815..877
                     /gene="OR5H14"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NHG9.1);
                     transmembrane region"
     misc_feature    908..970
                     /gene="OR5H14"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NHG9.1);
                     transmembrane region"
ORIGIN
        1 tgttactgtg ttttttttct gttttagaaa gtgtaacacg tttaaaggat atccacaatt
       61 tctttcaaaa atatggagga catgcagtga ggacatggaa gaggaaaatg caacattgct
      121 gacagagttt gttctcacag gatttttata tcaaccacag tggaaaatac ccctgttcct
      181 ggcattcttg gtaatatatc tcatcaccat catggggaat cttggtctga ttgctgtcat
      241 ctggaaagac cctcatcttc atatcccaat gtacttactc cttgggaatt tagcttttgt
      301 ggatgctttg ttatcatcct cagtgactct gaagatgctg atcaacttct tagctaagag
      361 taagatgata tctctctctg aatgcaagat acagttgttt tcgtttgcaa tcagtgtaac
      421 cacggaatgt tttctcttgg caacaatggc atatgatcgc tatgtagcca tatgcaaacc
      481 cttactttat ccagccatta tgaccaatgg actgtgcatc cggctattaa tcttgtcata
      541 tgtaggtggt cttcttcatg ctttaatcca tgaaggattt ttattcagac taaccttctg
      601 taactccaac ataatacaac acttttactg tgacattatc ccattgttaa agatttctta
      661 tactgattcc tctattaact ttctaatggt ttttattttt gcaggttcaa ttcaagtttt
      721 taccataggg actgttctta tatcttacat atttgtcctc tatacaatct tgaaaaagaa
      781 gtctgtcaaa ggtatgagaa aagccttctc cacctgtgga gctcatctct tatctgtatc
      841 tttatactat gggcccctcg ccttcatgta tatgggctct gcatccccac aggctgatga
      901 ccaagatatg atggagtctc tattttacac tgtcatagtt cctttattaa atcccatgat
      961 ctacagcctg agaaacaagc aagtaatagc ttcattcaca aaaatgttca aaagaaatga
     1021 tgtttagatc attactaata tctcttttct atttactaaa atgtcacaaa attgtgcaaa
     1081 ttagaggtac ctatgttttt gccagcatta aaagattttg caattataac tgtcctagcg
     1141 ctttaatgac ctatgatata agcacctatt taactaatta aaatattcct atgttattca
     1201 aaaggatttg agaaatttta atcaagtctt cataatagaa taatgatagc agaagcaaat
     1261 aaaaatattg tacagtatgg tatgttaatc actgtgtctt ataaatgcat taaatgcaaa
     1321 atagtctagt ttatctgata agcacttaag tatgatgttt ttgatactaa cacaactgta
     1381 tgacccgaga cgtctatcac atttatcttc atagtgaatg ttgatgtgtg tttagaggaa
     1441 gacaggtaga tcccaagaat tttgctagct ttcaagaggt ctttcattcc acttaattgt
     1501 aaaagagtga atttcacttc ttgtaggaag tcaactcata tatcaaataa agaagcagaa
     1561 atggaaatgc aattaggaca aaatgagaag tgtttaacag tgaaggcact gccaatgtgc
     1621 aagagggcaa gaggatgctg ttaactctct gtgcttgtat gagtaagaac catgcagcct
     1681 ctaacttcct aagatggctt ctaaggcact ttccagctgt gattgtgttt tcagagaatc
     1741 tgaaaagctt ccctaaatca gaaaattaaa tgaaaaaata gaacttagtt taaagtgggg
     1801 atagaaaaga aaagataaat ggcatagtgg gaagaaaatg gtcttaatct tcccagaaaa
     1861 aaagatgaaa ctactaagat tttaaaaacc agtgatgtta caaggttatt ggaatgcgtt
     1921 attgacaatc aggggcttta aatgcatatc atcaaagttc aaattatctt aagatgatat
     1981 gacatcatag tgcccagtga ttggagagaa aaacatgaaa atgaggaaga gttcggatat
     2041 tttctacttc aaaaagtcct tattagtctt cttctcactt catattcttg aagtatgtga
     2101 gtcatccatc tgccattcca ctctgccctt catctttcga cactgaaatt cctttcactt
     2161 tgtcactgat accgagaccc ttatcctaag cattactcac atatcgtttt gcaaacctct
     2221 agttatttcc tccacccttc tagcactcat tcattccccc attttgatgt cagattgttt
     2281 tttcaactct ttcaattttc ttttgttgga tcatcattgc tacctgatta tacgtacatg
     2341 tgttttaggt gtcaatatct atgtatacat acacttatgt atacatgaga ggagagaaag
     2401 gcttttgttg atttaatgcg gaagtacgtt aaaaagaaac ttttttggct aaagtggagc
     2461 agtagcgtta tttggattat tccagtagaa agttcctact tagaggtgag ttgatggttt
     2521 ctgattggtt aaagtaaact tttgttaaga acctatcatc agagtgaaca ggcaaactgc
     2581 agaatgggag aaaatttttg caatctgtcc atatgacaaa gggctaatat ccagaatcta
     2641 caaggagctt aaacaaattt acaagagaaa aacaaacaac cctatcaaaa tatgggtgaa
     2701 gaatatgaac agacagttct caaaagaaga catttatgca accagcaagc atgtgaaaac
     2761 cttgtcatca ctggtcatta cagaaatgca aatcaaaacc acagtgagat accatctcac
     2821 gccagttaga atggcaatca ttagaaagtc aggaaatgtt agatgctgga gaggatgtgg
     2881 agaaataaga actcatttat cctgttggtg ggagtgtaat tagttcaacc tttgtggaag
     2941 acagtgcggt gattccttat gaatccggag ccagaaatac tatttgactc agcaatccca
     3001 ttactgagta tatacccaaa gccttataaa tccttctaat ataaagacac atgcacatgt
     3061 atgtttactg gagcactatt cacaatagca aacacttgga accaacccaa aggcccatca
     3121 agtatagact ggataaagaa aatgtggcaa atatacacca tggaatacta tgcagccata
     3181 aaaaagaatg agttcatgtc ctttgcaggg acatggatga agctggaaac cattattctc
     3241 agcaaactaa cacaggaaca gaaaacaaaa cactgcaagt tctcactcat aagtgtgggt
     3301 tgaacaatgg gaacacatgg acacagggag gggaacatca caaactggag cctgtcaggg
     3361 ggtggagggg aaaggtaggg agagcattag gacaaataac taatgcatgt gggacttgaa
     3421 acctaggtga cgggttgatg ggtgtagcaa aacgccatgg cacatgtgta cctatgtaac
     3481 aacctgcaca tgtatcccag aacttaaagt ataaagaaga aaaaagttaa cattttcttt
     3541 accatttact atgagttggg gtttctgtgt gcttaggtag aaacccattt tgctggagcc
     3601 acctcagccc aatgtacttc aatttaatta ttttaactat tttctccctt ttgtttcact
     3661 tctcaattat aggatactga ccaacactca ggcacatgga gcactttctc accaccagag
     3721 cttgtctttg tctcagcatg gaactcataa gttacaattt ctattctctt aaagcagtgt
     3781 ttcttttatt ggacactttg tttttgccat gttaatcata tagagaaaat ctggcaaccg
     3841 tcatggctat gaacttgcat ttcagactct tgagaaaata cagcatacca gcaagattac
     3901 aatgatgacc ccttgaggaa aataccaagg aactggggag tactccatag tcaaagcacc
     3961 catgaacaaa atcaacagaa ataaaacaaa taaaagttaa tggttatagg ctaggcacag
     4021 tggctcacgc ctctaatccc agcactttgg gaggccgagg atggcggatc gctggaggtc
     4081 aggagttcca gacaagccta gccaacatgg tgaaacccca tctttatgaa aaatgcaaaa
     4141 aattagccgg gcgtggtggc aggtgcctgt gatcccagct acttatgagg ctgtggcagg
     4201 agaatcactt aaacccagga gtgggaggtt gcagtgagcc gagaaggcac cactgtacac
     4261 cagcctaggg aacagagtga gacactgtct cagaaaaaga aaagaaagtt agtggttata
     4321 gcaatctata aacttagtat ctaagcccag agggcattta gttgagaaga tttttagatt
     4381 ttaagctcaa agcatctttt gatgatggga caaaatggca gttgcaatct gttgattttt
     4441 ctgttttgca gtctgaatgt ctctgattat gttattggat gttttggtga actttttagc
     4501 agccagctca gttgcatgta tgaagattgt cctctgaagt ttatatcaag ttgtccagac
     4561 ctagcttgca gggcttcagg aaaagggcaa tgtataggta gataagaaaa ctcaaagata
     4621 acagacagaa cttgaattta ataatgaatg cactataatt ttctactgaa atatattttc
     4681 aaatatttga aaatgtttga cagatcatca gcttcccagt gtagcttttg ttttgtaact
     4741 aggttaatga gttgaaggtg gatcccactg atgaatagga caagtatttt ctatgcctga
     4801 actcaacatg aattgaccag aatgttttac aaatcatact tttaattttg ccttatagtc
     4861 agagattaat tcctgttttg tttataagat tacatgtcag accagtggat ttttgaggaa
     4921 atactttgtg aatggattct agaggattat ttgttatttt cccaaccctt tttgttcctt
     4981 ttctggaaga ttgaggggtt ggatctttcc tgtctacctt aggtacctca cgtttggctt
     5041 cagctatagg attaaccagg ttaaagtatc atgttactaa attgataaag atcagggagt
     5101 cctggattat ataatcctgg aagaattcta aattccacag aaaatgtctg gcacttttgt
     5161 ttgggacaag gatatttttc cctattgctc tcagcccaga ttttgaccaa ggtgtaaagg
     5221 tggttaaaga aggcaggcct ggttcatctg aggacgtgac tttataaggc atttatctag
     5281 tttcctttat tttaatgggt gaaaatgtaa ctgagcaaaa ggcttagtag atgcagagtg
     5341 acaagataga gtatgataga atgaaatata gttgaaacca cctttgcaaa aatgatgaca
     5401 gaaaaatctc acataggaat attatgacag tgaatctgaa ataagaaaat caggcagtgc
     5461 ttctaatctc caagctgccc ttcttcattc ctgagtgtag gtccaactac ctctgggagg
     5521 aatttatagt ttgattttga aacaaagatg gtaacagtct ctcctcaaag caaacttcct
     5581 cctagcttgg ggatctgacc acctttgtaa aactcacaga ttatcacaag attagaaatt
     5641 atggctcctg atcatcatgc aactggaggc catggaattc taaccttcct aactgctccc
     5701 acagataata ttcctattgt gaaatctaag attggtgttc aaggtatttt gtagatcctg
     5761 aattctgata aatcagctgg caacattcag aatggtaaaa ggactcctct agttttgtga
     5821 ccacccccct gctgcaggat ccacaagaag acagttttaa cccctatgat tttatcccca
     5881 acacaaccaa tcagctttcc tcattcctta gaccgctgcc caacaaaccg tgtttagaaa
     5941 accctaccct ctggattttt ggaaagggtg atctgagtaa taataaaact tgaatctccc
     6001 atttagccaa ttctatatgg attaaactct ctattgtaat tcctctgtct tggtaatggg
     6061 ctctatctag gtgtcaggca aaaagatctc attaggtggt tccgtacaga gagggagcag
     6121 ttggagttaa gtcagtcaat gatctacacc tagactttct ggaaattata tataaactaa
     6181 tccgatagaa tgatagaatg ccattatgaa gttatagtga cagcaccaac taggtggcaa
     6241 ggcattgcaa gattgtcttt gtttttattt tttcctcccc ctgatgtttg cctgttaaca
     6301 tttctcaaca gatttcagct cacctggaag ttagatatat gtctggagtt tcagctgcag
     6361 tttgaaggag gaggacaatt ttacaagttt acttggggtt gccttctgaa gggaatctag
     6421 atctttggcc ttattaaaat catattttga ccagctctga tgagaccata ttaatcacag
     6481 cattcaaagc atcctatttt atgtacaaac tgaagtgtgc gtaaaatctc agaagtgtta
     6541 tgtgttgtgg ataatagtgg cataaagtgt aatttcaatt gttaaaaccc aaactgggta
     6601 cagtgactta atatctatgt ttctaaactc tgcaataccc tgcaggataa tctgtatttc
     6661 ttatacacat ctaaatccac aatgcccagt tgaagatctt cactttgtcc tacaggaaag
     6721 cctaagatgc tctcagggga atttcagttc tctgactttt tctctcctgg tcaaaacgga
     6781 gatatacaat tggtcagcac ttttgttgaa agcaaatttt tacaaacatt tttctaagac
     6841 tggaaatgaa gcctccaaaa tgcatcagta cacaaagaat tgctgcctgt gttattatca
     6901 gatatgctct attatgtatt tttctctgct ttagaaagcc taatactttt aaaggatctc
     6961 cataatttct tatgatatta gtaaaagaga aattatttta tcatatccac tattattttt
     7021 aaagaaattt taaaatgcta tttaatatat aatgtttgta tttggatcac agcatgctaa
     7081 gattgctggg aacaaatgga accaagaaga gtgaagaatc tttgtatctc attattatgg
     7141 ttaaaatctt gacaagcaaa atacctataa aataagtttt taatgataat tcattatctt
     7201 gttaacctga ctataatgat gttataagtt ctggctaatt agaagcttaa atgttttaaa
     7261 gctgggttta aatcttcaat tcattgtgat tgttatatag gatacttttc tgatggttgt
     7321 gat
//
LOCUS       NM_001005515            1229 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily H member 15
            (OR5H15), mRNA.
ACCESSION   NM_001005515
VERSION     NM_001005515.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1229)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641450.1/ ENSP00000493082.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC117460.7.
            On Aug 5, 2020 this sequence version replaced NM_001005515.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1229
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     gene            1..1229
                     /gene="OR5H15"
                     /note="olfactory receptor family 5 subfamily H member 15"
                     /db_xref="GeneID:403274"
                     /db_xref="HGNC:HGNC:31287"
     misc_feature    134..136
                     /gene="OR5H15"
                     /note="upstream in-frame stop codon"
     CDS             155..1096
                     /gene="OR5H15"
                     /codon_start=1
                     /product="olfactory receptor 5H15"
                     /protein_id="NP_001005515.1"
                     /db_xref="CCDS:CCDS33799.1"
                     /db_xref="GeneID:403274"
                     /db_xref="HGNC:HGNC:31287"
                     /translation="MEEENATLLTEFVLTGFLYQPQWKIPLFLAFLVIYLITIMGNLGL
                     IAVIWKDPHLHIPMYLLLGNLAFVDAWISSTVTPKMLNNFLAKSKMISLSECKIQFFSI
                     AIGVTTECFLLATMAYDRYVAICKPLLYPAIMTNGLCIRLLILSYIAGILHALIHEGFL
                     FRLTFCNSNIVHHIYCDTIPLSKISCTDSSINFLMVFIFSGSIQVFSIVTILISYTFVL
                     FTVLEKKSDKGVRKAFSTCGAHLFSVCLYYGPLLLMYVGPASPQADGQNMVEPLFYTVI
                     IPLLNPIIYSLRNKQVIVSFIKMLKRNVKVSY"
     misc_feature    167..169
                     /gene="OR5H15"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NDH6.1); glycosylation site"
     misc_feature    239..301
                     /gene="OR5H15"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDH6.1);
                     transmembrane region"
     misc_feature    323..385
                     /gene="OR5H15"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDH6.1);
                     transmembrane region"
     misc_feature    449..511
                     /gene="OR5H15"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDH6.1);
                     transmembrane region"
     misc_feature    584..646
                     /gene="OR5H15"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDH6.1);
                     transmembrane region"
     misc_feature    740..802
                     /gene="OR5H15"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDH6.1);
                     transmembrane region"
     misc_feature    875..937
                     /gene="OR5H15"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDH6.1);
                     transmembrane region"
     misc_feature    968..1030
                     /gene="OR5H15"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDH6.1);
                     transmembrane region"
ORIGIN
        1 aatgaaacct tcaaaaagca tgagtacgta atgaatggct acctgtgtta ttgacattgc
       61 tgtgctactg tatgtatttc ggttttagaa ggcgtaacac atttaaagga tatccacaat
      121 ttccttcaaa atatagagga catgcagtga ggacatggaa gaggaaaatg caacattgct
      181 gacagagttt gttctcacag gatttttata tcaaccacag tggaaaatac ccctgttctt
      241 ggcattcttg gtaatatatc tcatcaccat catggggaat cttggtctga ttgctgtcat
      301 ctggaaagac cctcaccttc atatcccaat gtacttactc cttgggaatt tagcttttgt
      361 ggatgcttgg atatcatcca cagtgacccc aaagatgctg aataacttct tagctaagag
      421 taagatgata tctctctctg aatgcaagat acaatttttt tccattgcaa ttggcgtaac
      481 cacagaatgt tttctcttgg caacaatggc atatgatcgc tatgtagcca tatgcaaacc
      541 tttactttat ccagccatta tgaccaatgg actgtgcatc cggctattaa tcttgtcata
      601 tatagctggt attcttcatg ctttaatcca tgaaggattt ttattcagac taaccttctg
      661 taactccaac atagtacatc acatttactg tgacactatc ccattgtcta agatttcttg
      721 tactgattct tctattaatt ttctaatggt ttttattttc tcaggttcaa ttcaggtatt
      781 cagcattgtg actattctta tatcttacac atttgttctc ttcacagtct tagaaaagaa
      841 atctgataag ggtgtaagga aagccttttc cacctgtgga gcccatctct tctctgtctg
      901 tttatactat ggcccccttc tcttaatgta tgtgggccct gcatctccgc aagcagatgg
      961 tcaaaatatg gtggagcctc tattctacac tgtcatcatt cctttgttaa atcctatcat
     1021 ctacagtctg agaaataagc aagtcatagt ttcattcata aaaatgttaa aaagaaatgt
     1081 taaggtttca tactaatatc ctttttctat ttactaaaat agtcacaaaa ttacgcaagt
     1141 tagaggtacc tatgttgttt ccagtgttca aacatttttg caagtataac tgtcctagca
     1201 ctttaatgac ctaacatttt agtacctaa
//
LOCUS       NM_001005516             966 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily K member 3
            (OR5K3), mRNA.
ACCESSION   NM_001005516
VERSION     NM_001005516.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 966)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000383695.1/ ENSP00000373194.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC108730.7.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..966
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     gene            1..966
                     /gene="OR5K3"
                     /note="olfactory receptor family 5 subfamily K member 3"
                     /db_xref="GeneID:403277"
                     /db_xref="HGNC:HGNC:31290"
     CDS             1..966
                     /gene="OR5K3"
                     /codon_start=1
                     /product="olfactory receptor 5K3"
                     /protein_id="NP_001005516.1"
                     /db_xref="CCDS:CCDS33803.1"
                     /db_xref="GeneID:403277"
                     /db_xref="HGNC:HGNC:31290"
                     /translation="MNKENHSLIAEFILTGFTYHPKLKTVLFVVFFAIYLITMVGNIGL
                     VALIYIEQRLHTPMYIFLGNLVLMDSCCSSAITPKMLENFFSEDKRITLYECMAQFYFL
                     CLAETTDCFLLAAMAYDCYVAICNPLQYHTMMSKTLCIQMTAGAYLAGNLHPMIEVEFL
                     LRLTFCGSHQINHFFCDVLPLYRLSCINPYINELVLFILAGSIQIFTIVLVSYFYILFT
                     IFTMKSKEGRGKALSTCASHFLSVSIFCDSLLFMYARPGAVNEGDKDIPVAIFYTLVIP
                     LLNPFIYSLRNKEVINIMKKIMKKRKFCHILKQMSSPLAT"
     misc_feature    13..15
                     /gene="OR5K3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NET4.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR5K3"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NET4.1);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR5K3"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NET4.1);
                     transmembrane region"
     misc_feature    292..354
                     /gene="OR5K3"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NET4.1);
                     transmembrane region"
     misc_feature    430..492
                     /gene="OR5K3"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NET4.1);
                     transmembrane region"
     misc_feature    589..651
                     /gene="OR5K3"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NET4.1);
                     transmembrane region"
     misc_feature    706..768
                     /gene="OR5K3"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NET4.1);
                     transmembrane region"
     misc_feature    808..870
                     /gene="OR5K3"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NET4.1);
                     transmembrane region"
ORIGIN
        1 atgaataagg agaatcactc cttgatagct gagttcatcc tcacaggatt tacatatcat
       61 ccaaagctga agactgttct gtttgtggtg ttctttgcca tctatctgat caccatggtg
      121 gggaacattg gtttggtggc attgatttat atagagcaac gtcttcacac accaatgtac
      181 atatttttag gcaacctagt tctgatggat tcctgctgtt cctctgctat tactcccaag
      241 atgttagaga acttcttttc tgaggacaaa aggattaccc tgtatgaatg tatggcacaa
      301 ttttattttc tctgtcttgc tgaaactaca gactgctttc ttctggcggc aatggcctat
      361 gactgctatg tggccatatg caacccactg cagtaccaca ccatgatgtc caagacactc
      421 tgcattcaga tgactgcagg agcctaccta gctggcaacc tgcatcccat gattgaagta
      481 gagtttctgt tgaggttaac tttctgtggg tctcatcaaa tcaatcattt tttctgtgat
      541 gttcttccat tatatagact ttcttgtatt aacccttata tcaatgaatt ggtgttattt
      601 atcttggcag gatcaattca aatctttact atagtcttag tttcttattt ctacatcctt
      661 ttcacaatat ttacaatgaa atccaaggag ggaagaggca aagctttatc tacttgtgca
      721 tctcactttc tctctgtgtc aatattctgt gattcccttc tcttcatgta tgctcgacca
      781 ggtgcagtta atgaagggga taaagatata cctgttgcta tattttatac tttagttatt
      841 cctttattaa atccttttat ttatagccta agaaataagg aagtaataaa tattatgaaa
      901 aaaattatga agaagagaaa attttgtcac attctgaaac aaatgtcatc ccctctggca
      961 acttga
//
LOCUS       NM_001005517             966 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily K member 4
            (OR5K4), mRNA.
ACCESSION   NM_001005517
VERSION     NM_001005517.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 966)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354924.2/ ENSP00000347003.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC108730.7.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..966
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     gene            1..966
                     /gene="OR5K4"
                     /note="olfactory receptor family 5 subfamily K member 4"
                     /db_xref="GeneID:403278"
                     /db_xref="HGNC:HGNC:31291"
     CDS             1..966
                     /gene="OR5K4"
                     /codon_start=1
                     /product="olfactory receptor 5K4"
                     /protein_id="NP_001005517.1"
                     /db_xref="CCDS:CCDS33802.1"
                     /db_xref="GeneID:403278"
                     /db_xref="HGNC:HGNC:31291"
                     /translation="MARENHSLAAEFILIGFTNYPELKTLLFVVFSAIYLVTMVGNLGL
                     VALIYVERRLLTPMYIFLGNLALMDSCCSCAVTPKMLENFFSEDRIISLYECMAQFYFL
                     CLAETTDCFLLATMAYDRYVAICHPLQYHTMMSKTLCIRMTTGAFKAGNLHSMIHVGLL
                     LRLTFCRSNKIHHFFCDILPLYRLSCTDPSINELMIYIFSIPIQIFTIATVLISYLCIL
                     LTVFKMKSKEGRGKAFSTCASHFLSVSIFYICLLMYIGPSEEGDKDTPVAIFYAIVIPL
                     LNPFIYSLRNKEVINVLKKIMRNYNILKQTCSIANLFLIY"
     misc_feature    13..15
                     /gene="OR5K4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NMS3.1); glycosylation site"
     misc_feature    76..138
                     /gene="OR5K4"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMS3.1);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR5K4"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMS3.1);
                     transmembrane region"
     misc_feature    292..354
                     /gene="OR5K4"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMS3.1);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR5K4"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMS3.1);
                     transmembrane region"
     misc_feature    616..678
                     /gene="OR5K4"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMS3.1);
                     transmembrane region"
     misc_feature    721..783
                     /gene="OR5K4"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMS3.1);
                     transmembrane region"
     misc_feature    805..867
                     /gene="OR5K4"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMS3.1);
                     transmembrane region"
ORIGIN
        1 atggctaggg aaaatcactc cttagcagct gaattcatcc tcataggatt tacaaattat
       61 ccagagctga agacgcttct gtttgtggtg ttctctgcca tctatctggt caccatggtg
      121 gggaatcttg gtctggtggc attaatttat gtagagcgtc gtcttctcac accaatgtac
      181 atctttctgg gcaacctggc tctgatggat tcctgctgtt cctgtgctgt tacccccaag
      241 atgttagaga atttcttttc tgaggataga attatttccc tgtatgaatg tatggcacaa
      301 ttttattttc tctgtcttgc tgaaaccaca gactgctttc ttctggcgac aatggcctat
      361 gaccgctatg tggccatatg ccacccactg cagtaccaca ccatgatgtc caagacgctc
      421 tgcattcgga tgaccacagg ggccttcaaa gctggaaacc tgcattccat gattcatgta
      481 gggcttttat taaggttaac tttctgcagg tctaataaaa ttcaccactt tttctgtgat
      541 attcttccac tgtatagact ctcctgtaca gatccttcta ttaatgaact aatgatatat
      601 atcttttcaa taccaattca aatctttacc attgctactg tcttgatctc ttatctctgc
      661 atccttttga ctgttttcaa aatgaaatcc aaggagggaa gaggtaaagc attttctacc
      721 tgtgcatccc actttctctc tgtctcaata ttttacattt gtcttctcat gtatattgga
      781 ccatctgaag aaggagataa agatacacca gtggcaatat tttatgcaat agtaatccca
      841 ttactaaacc cttttattta tagtctgaga aataaggagg tcataaatgt tcttaaaaaa
      901 attatgagga attataacat tcttaaacaa acttgctcta tagcaaattt atttttaatt
      961 tattaa
//
LOCUS       NM_001005518             939 bp    mRNA    linear   PRI 13-MAY-2021
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily C member 65
            (OR6C65), mRNA.
ACCESSION   NM_001005518
VERSION     NM_001005518.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and
            Mollon JD.
  TITLE     Variants in the 1q21 risk region are associated with a visual
            endophenotype of autism and schizophrenia
  JOURNAL   Genes Brain Behav 13 (2), 144-151 (2014)
   PUBMED   24152035
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379665.3/ ENSP00000368986.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC125816.8.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..939
                     /gene="OR6C65"
                     /note="olfactory receptor family 6 subfamily C member 65"
                     /db_xref="GeneID:403282"
                     /db_xref="HGNC:HGNC:31295"
     CDS             1..939
                     /gene="OR6C65"
                     /codon_start=1
                     /product="olfactory receptor 6C65"
                     /protein_id="NP_001005518.1"
                     /db_xref="CCDS:CCDS31821.1"
                     /db_xref="GeneID:403282"
                     /db_xref="HGNC:HGNC:31295"
                     /translation="MPNMTSIREFILLGFTDNPELQVVIFFFMLITYLLSVSGNMIIIM
                     LTLSNIHLKTPMYFFLRNFSFLEISFTTVFIPRFLINIATGDTTISYNASMAQVFFLIL
                     LGSTEFFLLAVMSYDRYVAICKPLHYTTIMSNKVCNWLVISSWLAGFLIIFPPVIMGLQ
                     LDFCDSSTIDHFICDSSPMLLIACTDTQFLELMAFLLAVFTLMVTLALVVLSYTLILKT
                     ILKIPSAQQRKKAFSTCSSHMIVVSVSYGSCIFMCVKTSAKEGMALSKGVAVLNTSVAP
                     MLNPFIYTLRNQQVKQALREFTKKILSLNKQ"
     misc_feature    7..9
                     /gene="OR6C65"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NJZ3.1); glycosylation site"
     misc_feature    70..132
                     /gene="OR6C65"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NJZ3.1);
                     transmembrane region"
     misc_feature    190..252
                     /gene="OR6C65"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NJZ3.1);
                     transmembrane region"
     misc_feature    277..279
                     /gene="OR6C65"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NJZ3.1); glycosylation site"
     misc_feature    286..348
                     /gene="OR6C65"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NJZ3.1);
                     transmembrane region"
     misc_feature    424..486
                     /gene="OR6C65"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NJZ3.1);
                     transmembrane region"
     misc_feature    583..645
                     /gene="OR6C65"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NJZ3.1);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR6C65"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NJZ3.1);
                     transmembrane region"
     misc_feature    817..870
                     /gene="OR6C65"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NJZ3.1);
                     transmembrane region"
ORIGIN
        1 atgccaaata tgacatcaat tagagaattc attcttctgg gatttacaga taacccagag
       61 ttacaagttg tgatattctt ctttatgttg atcacatact tattgagtgt aagtggaaac
      121 atgatcatca ttatgttaac attgtcaaat attcatttga aaactcctat gtatttcttc
      181 ctcaggaatt tctctttctt agaaatttca tttacgacag tcttcattcc tagatttctg
      241 atcaacattg ctacaggaga cacaaccatt tcctataatg cttccatggc ccaagtattt
      301 tttttaattc ttttgggatc aacagaattt tttcttctgg ctgtcatgtc ttatgatcgc
      361 tatgtggcta tctgcaaacc tctacattat acaaccatca tgagtaacaa agtctgtaat
      421 tggcttgtaa tcagctcctg gctggctggt tttctcatta tttttccccc cgtgattatg
      481 ggcctccaac tggatttttg tgactccagc actattgacc atttcatctg tgattcttcc
      541 cctatgctgc tgattgcttg cacagacaca cagtttctag agcttatggc atttttgcta
      601 gcagtattca cactcatggt aactttggcc ttggtggttc tctcctacac actcatcctt
      661 aaaacaattc tgaagattcc ctctgcccag caaaggaaaa aggctttttc aacttgttcc
      721 tcccatatga ttgtggtttc tgtttcttat gggagttgca tttttatgtg tgtaaaaaca
      781 tctgcaaaag aaggtatggc tttgagcaaa ggtgtagcag tgcttaatac ctctgttgct
      841 cctatgttga atccctttat ttatacctta agaaaccagc aggtgaaaca ggcccttagg
      901 gaattcacca aaaaaatatt atcattgaac aagcaataa
//
LOCUS       NM_001005519             939 bp    mRNA    linear   PRI 13-FEB-2021
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily C member 68
            (OR6C68), mRNA.
ACCESSION   NM_001005519
VERSION     NM_001005519.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and
            Mollon JD.
  TITLE     Variants in the 1q21 risk region are associated with a visual
            endophenotype of autism and schizophrenia
  JOURNAL   Genes Brain Behav 13 (2), 144-151 (2014)
   PUBMED   24152035
COMMENT     ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000548615.1/ ENSP00000448811.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC122685.9.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 29, 2011 this sequence version replaced NM_001005519.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a seven-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Mar 2014].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..939
                     /gene="OR6C68"
                     /note="olfactory receptor family 6 subfamily C member 68"
                     /db_xref="GeneID:403284"
                     /db_xref="HGNC:HGNC:31297"
     CDS             1..939
                     /gene="OR6C68"
                     /codon_start=1
                     /product="olfactory receptor 6C68"
                     /protein_id="NP_001005519.2"
                     /db_xref="CCDS:CCDS31826.2"
                     /db_xref="GeneID:403284"
                     /db_xref="HGNC:HGNC:31297"
                     /translation="MRKHTAITTFILLGLTEDPQLQVLLFMFLFITYMLSVTGKLTIIA
                     LTMLDPHLKTPMYFFLQNLSFLEISFTATCVPRFLYSISTGNKIITYNACVIQLFFADL
                     FGVTEFFLLATMSYDRYVAICKPLHYMAIMSNKVCKTMVICCWMAALMIILPPLSLGFH
                     LEFCDSNVINHFGCDALPILKIPCSDTSLIEQMVVASAVLTFIITLVCVVLSYTYIIRT
                     ILKFPSVQQKKKAFSTCSSHITVVSITYGSCIFIYIKPSAKEEVNINKGVSVLISSISP
                     MLNSFIYTLRNEQVKQAFHDSLKKIAFRLKK"
     misc_feature    70..132
                     /gene="OR6C68"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDL8.2);
                     transmembrane region"
     misc_feature    166..228
                     /gene="OR6C68"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDL8.2);
                     transmembrane region"
     misc_feature    286..348
                     /gene="OR6C68"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDL8.2);
                     transmembrane region"
     misc_feature    430..492
                     /gene="OR6C68"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDL8.2);
                     transmembrane region"
     misc_feature    592..654
                     /gene="OR6C68"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDL8.2);
                     transmembrane region"
     misc_feature    718..780
                     /gene="OR6C68"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDL8.2);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR6C68"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDL8.2);
                     transmembrane region"
ORIGIN
        1 atgagaaaac acacagcaat aacaacattc atccttctgg gactgacaga agatcctcag
       61 ctgcaggttc tgcttttcat gtttctattt atcacctaca tgttgagtgt aacagggaaa
      121 ctgaccatta tcgccctcac catgttggat ccccacctga aaacacccat gtattttttt
      181 ctccaaaatt tatctttctt agaaatctca tttacagcta cctgtgttcc aagattctta
      241 tacagtatct caactgggaa caaaataata acgtataatg catgtgtcat tcagctattt
      301 tttgcagacc tctttggggt aactgaattt tttcttttgg ctaccatgtc atatgatcgc
      361 tatgtggcca tctgcaaacc cttgcattat atggcaatca tgagcaacaa agtgtgcaaa
      421 acaatggtta tttgttgttg gatggcagca cttatgatta tcctcccacc acttagctta
      481 ggttttcatc tagaattctg tgactctaat gtcatcaatc attttggctg tgatgcattg
      541 cctattctga aaataccatg ctcagacaca tcattaattg agcagatggt tgtagcctct
      601 gctgtattaa cctttattat cactcttgta tgtgtagttc tgtcctacac atatatcata
      661 agaacaattc taaaattccc ttctgttcaa caaaagaaaa aagccttttc tacctgttct
      721 tcacatatta ctgtggtttc catcacttat ggcagctgca tcttcatcta tatcaagcca
      781 tctgcaaaag aagaggtaaa cattaataaa ggtgtgtcag tgcttatttc atccatatca
      841 cctatgttga attctttcat atatactctt aggaatgagc aagttaaaca agcctttcat
      901 gactcactca aaaaaattgc atttcgttta aaaaagtaa
//
LOCUS       NM_001005522            2422 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily T member 8
            (OR2T8), mRNA.
ACCESSION   NM_001005522
VERSION     NM_001005522.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2422)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2422)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BF849296.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000641945.2/ ENSP00000493286.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC099571.3.
            On or before Aug 5, 2020 this sequence version replaced
            XM_011544178.2, NM_001005522.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2422
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..2422
                     /gene="OR2T8"
                     /gene_synonym="OR2T8P"
                     /note="olfactory receptor family 2 subfamily T member 8"
                     /db_xref="GeneID:343172"
                     /db_xref="HGNC:HGNC:15020"
     misc_feature    192..194
                     /gene="OR2T8"
                     /gene_synonym="OR2T8P"
                     /note="upstream in-frame stop codon"
     CDS             288..1226
                     /gene="OR2T8"
                     /gene_synonym="OR2T8P"
                     /note="olfactory receptor, family 2, subfamily T, member 8
                     pseudogene"
                     /codon_start=1
                     /product="olfactory receptor 2T8"
                     /protein_id="NP_001005522.1"
                     /db_xref="CCDS:CCDS31100.1"
                     /db_xref="GeneID:343172"
                     /db_xref="HGNC:HGNC:15020"
                     /translation="MENGSYTSYFILLGLFNHTRAHQVLFMMVLSIVLTSLFGNSLMIL
                     LIHWDHRLHTPMYFLLSQLSLMDVMLVSTTVPKMAADYLTGSKAISRAGCGAQIFFLPT
                     LGGGECFLLAAMAYDRYAAVCHPLRYPTLMSWQLCLRMNLSCWLLGAADGLLQAVATLS
                     FPYCGAHEIDHFFCETPVLVRLACADTSVFENAMYICCVLMLLVPFSLILSSYGLILAA
                     VLHMRSTEARKKAFATCSSHVAVVGLFYGAAIFTYMRPKSHRSTNHDKVVSAFYTMFTP
                     LLNPLIYSVKNSEVKGALTRCMGRCVALSRE"
     misc_feature    294..296
                     /gene="OR2T8"
                     /gene_synonym="OR2T8P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NH00.1); glycosylation site"
     misc_feature    336..338
                     /gene="OR2T8"
                     /gene_synonym="OR2T8P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NH00.1); glycosylation site"
     misc_feature    366..428
                     /gene="OR2T8"
                     /gene_synonym="OR2T8P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NH00.1);
                     transmembrane region"
     misc_feature    453..515
                     /gene="OR2T8"
                     /gene_synonym="OR2T8P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NH00.1);
                     transmembrane region"
     misc_feature    576..638
                     /gene="OR2T8"
                     /gene_synonym="OR2T8P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NH00.1);
                     transmembrane region"
     misc_feature    717..779
                     /gene="OR2T8"
                     /gene_synonym="OR2T8P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NH00.1);
                     transmembrane region"
     misc_feature    891..953
                     /gene="OR2T8"
                     /gene_synonym="OR2T8P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NH00.1);
                     transmembrane region"
     misc_feature    990..1052
                     /gene="OR2T8"
                     /gene_synonym="OR2T8P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NH00.1);
                     transmembrane region"
     misc_feature    1095..1157
                     /gene="OR2T8"
                     /gene_synonym="OR2T8P"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NH00.1);
                     transmembrane region"
     regulatory      2389..2394
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR2T8"
                     /gene_synonym="OR2T8P"
                     /note="hexamer: AATAAA"
     polyA_site      2422
                     /gene="OR2T8"
                     /gene_synonym="OR2T8P"
                     /note="major polyA site"
ORIGIN
        1 cattgcaaca aagtaccttg tacagttaat gaaaatgtgt gtttaccatt atactcttac
       61 actgcaaaga aataaaaaat atccaagaag gtcagtactg ttttcagtct atcacctata
      121 aaggaggact aaatgtgttc acaactccaa attaactatg ttttcatctg cagactcagc
      181 ctttccagac ctgagaatat aagtcaccct ctttagaaag gaaaaaaagt cttcttggat
      241 taagtcaggg aaaactgcct gattttgtgt cactcttatt tgaaatcatg gaaaatggga
      301 gctatacctc ttatttcatt ctcctaggac tctttaacca caccagagcc caccaagtcc
      361 tcttcatgat ggttctgagt atcgttttga cctccctgtt tggcaattcc ctcatgattc
      421 tcctgattca ctgggaccac cggctccaca cgcccatgta cttcctcctg agccaacttt
      481 ccctcatgga cgtgatgctg gtttccacca ctgtgcccaa aatggcggct gactacttga
      541 ccggaagtaa ggccatctcc cgcgctggct gtggtgcgca gatcttcttc ctccccacac
      601 tgggtggtgg agagtgcttc ctcttagcag ccatggccta tgaccgctat gcggctgtct
      661 gccacccact ccgatatccc actctcatga gctggcagct gtgcctgagg atgaacctgt
      721 cgtgttggct cctgggtgca gctgacgggc tcctgcaggc tgttgctacc ctgagcttcc
      781 catattgcgg tgcacacgag atcgatcact tcttctgcga gacccccgtg ctggtgcgtt
      841 tggcttgtgc tgacacttca gtcttcgaaa acgccatgta catctgctgt gtgttaatgc
      901 tcctggtccc cttttccctc atcctgtcct cctatggtct catcctcgct gctgttctgc
      961 acatgcgctc tacagaagcc cgcaagaagg cctttgccac ctgctcttca catgtggctg
     1021 tggtgggact cttttatgga gctgccattt ttacctatat gagacccaaa tcccacaggt
     1081 ccactaacca cgacaaggtt gtgtcagcct tctatactat gttcacccct ttactaaacc
     1141 ccctcatcta cagtgtgaag aacagtgagg tgaagggagc cctgacaagg tgtatgggtc
     1201 ggtgtgtggc cttaagtcgt gaataagact atatatttgc cccaacattc aaaactgtgc
     1261 aaagtgtttg tgtggaattt cctagaaata aggaatatac acttttattt ctacatctgt
     1321 tgtctctgtg tgtgtgtgtg tttgtgtgtt gctttgaatt gcagatgaat cttcattcct
     1381 cgggttcatt tactcagcta tcattaccca atcaaatcat ggattgttaa aaatcggtga
     1441 actcactaat ccttagtaag atggttttac atcatacctc acaataattt tttgttcaaa
     1501 gaatgaatta accattcaag cagttttgaa agttgttgcc atttgtttca aattgaggtg
     1561 tagcttacac acagtagaat gctcgcattt aagatgttcc ttttcaacta atttccacaa
     1621 atatctaccc tggtaattca cccattagga agagacacca ttttcaccac ctcagaaagg
     1681 tcctgcaggc ccttttccag tgatacccca ggcctaagat acatccactg ctctaatttt
     1741 tatctctgtt cgttagtttg ggctattcta aaatttcaca tcaaaggaaa caaatagtat
     1801 ggtcttgaat cttgtttcct tctttcagct taatgtattt ctaaaatccc tccacatttt
     1861 tacctcattg ttacattgct tttttttact gctaagtagt attttgtttt ctgaaaattt
     1921 catcatttgt ttatccatta ttttgctgat ggacatctgg gctattttca gtttgaagtt
     1981 ctggtgactg aaatgtatgt taatctccta tttgtaatca tatgttttta tttttcttgg
     2041 taggtgtctg gtgaactctt cagtaaactg ttttcaaagt ggttgtttac tcttatactg
     2101 ccgctgacaa tgcacacaag ttcctgttgc tccaaatgtc gatgttttct tcattttagc
     2161 aattcttctg agtgtagtag gaactcagtt tgcttttaat ttgcattttc ctgatgacta
     2221 ataatgttga ggcctcttgc gttagcttat tatctattgc ctattgatgt aaactgtcta
     2281 cttcagtttt tggaaaaaaa aatctgtata tgcttccaaa gcgaaaacaa cttggtcatt
     2341 aactaatagg caatctatgg cattcatagg gctacttgga attttggaaa taaaatcata
     2401 tattgggtta ttttttatta ta
//
LOCUS       NM_001005566            2210 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 5 subfamily B member 2
            (OR5B2), mRNA.
ACCESSION   NM_001005566
VERSION     NM_001005566.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2210)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
REFERENCE   2  (bases 1 to 2210)
  AUTHORS   Fuchs T, Malecova B, Linhart C, Sharan R, Khen M, Herwig R,
            Shmulevich D, Elkon R, Steinfath M, O'Brien JK, Radelof U, Lehrach
            H, Lancet D and Shamir R.
  TITLE     DEFOG: a practical scheme for deciphering families of genes
  JOURNAL   Genomics 80 (3), 295-302 (2002)
   PUBMED   12213199
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2467150
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641342.2/ ENSP00000493419.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP002345.4 and KC877418.1.
            On Aug 7, 2020 this sequence version replaced NM_001005566.2.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2210
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..2210
                     /gene="OR5B2"
                     /gene_synonym="OR11-240; OST073"
                     /note="olfactory receptor family 5 subfamily B member 2"
                     /db_xref="GeneID:390190"
                     /db_xref="HGNC:HGNC:8323"
     misc_feature    166..168
                     /gene="OR5B2"
                     /gene_synonym="OR11-240; OST073"
                     /note="upstream in-frame stop codon"
     CDS             187..1116
                     /gene="OR5B2"
                     /gene_synonym="OR11-240; OST073"
                     /note="olfactory receptor OR11-240"
                     /codon_start=1
                     /product="olfactory receptor 5B2"
                     /protein_id="NP_001005566.1"
                     /db_xref="CCDS:CCDS31550.1"
                     /db_xref="GeneID:390190"
                     /db_xref="HGNC:HGNC:8323"
                     /translation="MENCTEVTKFILLGLTSVPELQIPLFILFTFIYLLTLCGNLGMML
                     LILMDSCLHTPMYFFLSNLSLVDFGYSSAVTPKVMAGFLRGDKVISYNACAVQMFFFVA
                     LATVENYLLASMAYDRYAAVCKPLHYTTTMTASVGACLALGSYVCGFLNASFHIGGIFS
                     LSFCKSNLVHHFFCDVPAVMALSCSDKHTSEVILVFMSSFNIFFVLLVIFISYLFIFIT
                     ILKMHSAKGHQKALSTCASHFTAVSVFYGTVIFIYLQPSSSHSMDTDKMASVFYAMIIP
                     MLNPVVYSLRNREVQNAFKKVLRRQKFL"
     misc_feature    193..195
                     /gene="OR5B2"
                     /gene_synonym="OR11-240; OST073"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96R09.3); glycosylation site"
     misc_feature    256..327
                     /gene="OR5B2"
                     /gene_synonym="OR11-240; OST073"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R09.3);
                     transmembrane region"
     misc_feature    352..417
                     /gene="OR5B2"
                     /gene_synonym="OR11-240; OST073"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R09.3);
                     transmembrane region"
     misc_feature    481..540
                     /gene="OR5B2"
                     /gene_synonym="OR11-240; OST073"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R09.3);
                     transmembrane region"
     misc_feature    598..654
                     /gene="OR5B2"
                     /gene_synonym="OR11-240; OST073"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R09.3);
                     transmembrane region"
     misc_feature    766..837
                     /gene="OR5B2"
                     /gene_synonym="OR11-240; OST073"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R09.3);
                     transmembrane region"
     misc_feature    889..957
                     /gene="OR5B2"
                     /gene_synonym="OR11-240; OST073"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R09.3);
                     transmembrane region"
     misc_feature    997..1056
                     /gene="OR5B2"
                     /gene_synonym="OR11-240; OST073"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96R09.3);
                     transmembrane region"
     regulatory      2192..2197
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OR5B2"
                     /gene_synonym="OR11-240; OST073"
                     /note="hexamer: AATAAA"
     polyA_site      2210
                     /gene="OR5B2"
                     /gene_synonym="OR11-240; OST073"
                     /note="major polyA site"
ORIGIN
        1 gtcttgtcct gcaaggtgga ttcccaattc cattgtccac agctgaagcc catgctattc
       61 ttgcctctcc attctggcca tgtggattcc tcctccaatc aaggacttgc aatttgaaga
      121 taccaactga aagtgtgtca tcttccttga agagcaaggt catcttaagt ttctcagata
      181 atactgatgg agaattgtac ggaagtgaca aagttcattc ttctaggact aaccagtgtc
      241 ccagaactac agatccccct ctttatcttg ttcaccttca tctacctcct cactctgtgt
      301 gggaacctgg ggatgatgtt gctgatcctg atggactctt gtctccacac ccccatgtac
      361 tttttcctca gtaacctgtc tctggtggac tttggatact cctcagctgt cactcccaag
      421 gtcatggctg ggttccttag aggagacaag gtcatctcct acaatgcatg tgctgttcag
      481 atgttcttct ttgtagcctt ggccacggtg gaaaattact tgttggcctc aatggcctat
      541 gaccgctatg cagcagtgtg caaaccccta cactacacca ccaccatgac ggccagtgta
      601 ggtgcctgtc tggccctagg ctcatatgtc tgtggcttcc taaatgcctc attccacatt
      661 gggggcatat tcagtctctc tttctgtaaa tccaatctgg tacatcactt tttctgtgat
      721 gttccagcag tcatggctct gtcttgctct gataaacaca ctagtgaggt gattctggtt
      781 tttatgtcaa gctttaatat cttttttgtt cttctagtta tctttatctc ctacttgttc
      841 atattcatca ccatcttgaa gatgcattca gctaagggac accaaaaagc attgtccacc
      901 tgtgcctctc acttcactgc agtctccgtc ttctatggga cagtaatctt catctacttg
      961 cagcccagct ccagccactc catggacaca gacaaaatgg catctgtgtt ctatgctatg
     1021 atcatcccca tgctgaaccc tgtggtctac agcctgagga acagagaagt ccagaatgca
     1081 ttcaagaaag tgttgagaag gcaaaaattt ctataagttt ggaattttaa cattgttgta
     1141 tacacaaaaa tgttgtttcc ctcatctcag actttcctca tgcaatgagt tacatttgaa
     1201 accccacaat acatttaagt tcatgaggtg atattcttac ctctttagaa gtcaattttt
     1261 taataaaaat aaaatattat cagaaatgta atacctgaat gaggaaggct aaatggaaat
     1321 gttagaattt ttggaacttg ctggtcaaaa cttactaatg acattcggtt tactcacttg
     1381 ttccccttgc attttttcta ccacattcca gtgcaaacat acttgttaaa cagggacacc
     1441 aacaagccca caaaaaagta catgtttatg cctcttgtgg gcacataggc attagaagga
     1501 gaaatttact cagaagtaaa tggagtgtgg ctagttttta tataaaggat gtaagtaatt
     1561 aatttagtat tatagtataa atttattttt gaatagactt taagaacagt tttatgttca
     1621 cagcaaaatg gagaggtaag tacagagatt tcccatatac cttctgcccc cacatacata
     1681 taccctccct cattgtcaat atcctccaac agagtgctac attttttaca attgatgaac
     1741 ctacattgac acatcattat catctcaaga ccataattta cattaggatt cactcttgct
     1801 gttgtccctt ctatggattt gaataaatgt ataatgacat ctatttatca ttatagtatc
     1861 atattgagta gtttcactgc tctaaagctc ttctatgctc tacttactca ttcttccttc
     1921 ttccctaacc cctgacaact actgatcttt ttctgtctcc acagttttgc tttctccaga
     1981 atgtcatata gttaaaatca tatggtatgt aacctttcca tattggctta tttcacatag
     2041 taatatgcat ctgttttctc cataactttt cgtggcttga tagctcattt cattttagca
     2101 ctgaatattg tctattgtca agtggtatca cactttattc atgtacctac tgaaggatat
     2161 tttggttgct tccctagtgt tggcagttat gaataaagcc gctataaaca
//
LOCUS       NM_001005738            1938 bp    mRNA    linear   PRI 16-MAR-2023
DEFINITION  Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2,
            mRNA.
ACCESSION   NM_001005738
VERSION     NM_001005738.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1938)
  AUTHORS   Lee C, Han J and Jung Y.
  TITLE     Formyl peptide receptor 2 is an emerging modulator of inflammation
            in the liver
  JOURNAL   Exp Mol Med 55 (2), 325-332 (2023)
   PUBMED   36750693
  REMARK    GeneRIF: Formyl peptide receptor 2 is an emerging modulator of
            inflammation in the liver. Review article
REFERENCE   2  (bases 1 to 1938)
  AUTHORS   Huang K, Wang Z, He Z, Li Y, Li S, Shen K, Zhu G, Liu Z, Lv S, Zhang
            C, Yang H, Yang X and Liu S.
  TITLE     Downregulated formyl peptide receptor 2 expression in the
            epileptogenic foci of patients with focal cortical dysplasia type
            IIb and tuberous sclerosis complex
  JOURNAL   Immun Inflamm Dis 10 (11), e706 (2022)
   PUBMED   36301030
  REMARK    GeneRIF: Downregulated formyl peptide receptor 2 expression in the
            epileptogenic foci of patients with focal cortical dysplasia type
            IIb and tuberous sclerosis complex.
REFERENCE   3  (bases 1 to 1938)
  AUTHORS   Filiberto AC, Ladd Z, Leroy V, Su G, Elder CT, Pruitt EY, Hensley
            SE, Lu G, Hartman JB, Zarrinpar A, Sharma AK and Upchurch GR Jr.
  TITLE     Resolution of inflammation via RvD1/FPR2 signaling mitigates Nox2
            activation and ferroptosis of macrophages in experimental abdominal
            aortic aneurysms
  JOURNAL   FASEB J 36 (11), e22579 (2022)
   PUBMED   36183323
  REMARK    GeneRIF: Resolution of inflammation via RvD1/FPR2 signaling
            mitigates Nox2 activation and ferroptosis of macrophages in
            experimental abdominal aortic aneurysms.
REFERENCE   4  (bases 1 to 1938)
  AUTHORS   Wang T, Liu G, Guo X and Ji W.
  TITLE     Single-Cell Analysis Reveals the Role of the Neuropeptide Receptor
            FPR2 in Monocytes in Kawasaki Disease: A Bioinformatic Study
  JOURNAL   Dis Markers 2022, 1666240 (2022)
   PUBMED   35692878
  REMARK    GeneRIF: Single-Cell Analysis Reveals the Role of the Neuropeptide
            Receptor FPR2 in Monocytes in Kawasaki Disease: A Bioinformatic
            Study. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1938)
  AUTHORS   Foo SL, Sachaphibulkij K, Lee CLY, Yap GLR, Cui J, Arumugam T and
            Lim LHK.
  TITLE     Breast cancer metastasis to brain results in recruitment and
            activation of microglia through annexin-A1/formyl peptide receptor
            signaling
  JOURNAL   Breast Cancer Res 24 (1), 25 (2022)
   PUBMED   35382852
  REMARK    GeneRIF: Breast cancer metastasis to brain results in recruitment
            and activation of microglia through annexin-A1/formyl peptide
            receptor signaling. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1938)
  AUTHORS   Nomura H, Nielsen BW and Matsushima K.
  TITLE     Molecular cloning of cDNAs encoding a LD78 receptor and putative
            leukocyte chemotactic peptide receptors
  JOURNAL   Int Immunol 5 (10), 1239-1249 (1993)
   PUBMED   7505609
REFERENCE   7  (bases 1 to 1938)
  AUTHORS   Perez HD, Holmes R, Kelly E, McClary J and Andrews WH.
  TITLE     Cloning of a cDNA encoding a receptor related to the formyl peptide
            receptor of human neutrophils
  JOURNAL   Gene 118 (2), 303-304 (1992)
   PUBMED   1511907
REFERENCE   8  (bases 1 to 1938)
  AUTHORS   Bao L, Gerard NP, Eddy RL Jr, Shows TB and Gerard C.
  TITLE     Mapping of genes for the human C5a receptor (C5AR), human FMLP
            receptor (FPR), and two FMLP receptor homologue orphan receptors
            (FPRH1, FPRH2) to chromosome 19
  JOURNAL   Genomics 13 (2), 437-440 (1992)
   PUBMED   1612600
REFERENCE   9  (bases 1 to 1938)
  AUTHORS   Ye RD, Cavanagh SL, Quehenberger O, Prossnitz ER and Cochrane CG.
  TITLE     Isolation of a cDNA that encodes a novel granulocyte N-formyl
            peptide receptor
  JOURNAL   Biochem Biophys Res Commun 184 (2), 582-589 (1992)
   PUBMED   1374236
REFERENCE   10  (bases 1 to 1938)
  AUTHORS   Murphy PM, Ozcelik T, Kenney RT, Tiffany HL, McDermott D and Francke
            U.
  TITLE     A structural homologue of the N-formyl peptide receptor.
            Characterization and chromosome mapping of a peptide chemoattractant
            receptor family
  JOURNAL   J Biol Chem 267 (11), 7637-7643 (1992)
   PUBMED   1373134
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DA674465.1, SRR1803612.48234.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000340023.7/ ENSP00000340191.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018755.3, BM922150.1, BC071722.1 and D10922.1.
            On Nov 22, 2018 this sequence version replaced NM_001005738.1.
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1938
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     gene            1..1938
                     /gene="FPR2"
                     /gene_synonym="ALX; ALXR; FMLP-R-II; FMLPX; FPR2A; FPRH1;
                     FPRH2; FPRL1; HM63; LXA4R"
                     /note="formyl peptide receptor 2"
                     /db_xref="GeneID:2358"
                     /db_xref="HGNC:HGNC:3827"
                     /db_xref="MIM:136538"
     CDS             66..1121
                     /gene="FPR2"
                     /gene_synonym="ALX; ALXR; FMLP-R-II; FMLPX; FPR2A; FPRH1;
                     FPRH2; FPRL1; HM63; LXA4R"
                     /note="formyl peptide receptor-like 1; lipoxin A4 receptor
                     (formyl peptide receptor related); RFP; FMLP-R-I; LXA4
                     receptor; FMLP-related receptor I"
                     /codon_start=1
                     /product="N-formyl peptide receptor 2"
                     /protein_id="NP_001005738.1"
                     /db_xref="CCDS:CCDS12840.1"
                     /db_xref="GeneID:2358"
                     /db_xref="HGNC:HGNC:3827"
                     /db_xref="MIM:136538"
                     /translation="METNFSTPLNEYEEVSYESAGYTVLRILPLVVLGVTFVLGVLGNG
                     LVIWVAGFRMTRTVTTICYLNLALADFSFTATLPFLIVSMAMGEKWPFGWFLCKLIHIV
                     VDINLFGSVFLIGFIALDRCICVLHPVWAQNHRTVSLAMKVIVGPWILALVLTLPVFLF
                     LTTVTIPNGDTYCTFNFASWGGTPEERLKVAITMLTARGIIRFVIGFSLPMSIVAICYG
                     LIAAKIHKKGMIKSSRPLRVLTAVVASFFICWFPFQLVALLGTVWLKEMLFYGKYKIID
                     ILVNPTSSLAFFNSCLNPMLYVFVGQDFRERLIHSLPTSLERALSEDSAPTNDTAANSA
                     SPPAETELQAM"
     misc_feature    75..77
                     /gene="FPR2"
                     /gene_synonym="ALX; ALXR; FMLP-R-II; FMLPX; FPR2A; FPRH1;
                     FPRH2; FPRL1; HM63; LXA4R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P25090.2); glycosylation site"
     misc_feature    147..215
                     /gene="FPR2"
                     /gene_synonym="ALX; ALXR; FMLP-R-II; FMLPX; FPR2A; FPRH1;
                     FPRH2; FPRL1; HM63; LXA4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P25090.2);
                     transmembrane region"
     misc_feature    249..314
                     /gene="FPR2"
                     /gene_synonym="ALX; ALXR; FMLP-R-II; FMLPX; FPR2A; FPRH1;
                     FPRH2; FPRL1; HM63; LXA4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P25090.2);
                     transmembrane region"
     misc_feature    366..428
                     /gene="FPR2"
                     /gene_synonym="ALX; ALXR; FMLP-R-II; FMLPX; FPR2A; FPRH1;
                     FPRH2; FPRL1; HM63; LXA4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P25090.2);
                     transmembrane region"
     misc_feature    486..551
                     /gene="FPR2"
                     /gene_synonym="ALX; ALXR; FMLP-R-II; FMLPX; FPR2A; FPRH1;
                     FPRH2; FPRL1; HM63; LXA4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P25090.2);
                     transmembrane region"
     misc_feature    681..743
                     /gene="FPR2"
                     /gene_synonym="ALX; ALXR; FMLP-R-II; FMLPX; FPR2A; FPRH1;
                     FPRH2; FPRL1; HM63; LXA4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P25090.2);
                     transmembrane region"
     misc_feature    792..863
                     /gene="FPR2"
                     /gene_synonym="ALX; ALXR; FMLP-R-II; FMLPX; FPR2A; FPRH1;
                     FPRH2; FPRL1; HM63; LXA4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P25090.2);
                     transmembrane region"
     misc_feature    924..983
                     /gene="FPR2"
                     /gene_synonym="ALX; ALXR; FMLP-R-II; FMLPX; FPR2A; FPRH1;
                     FPRH2; FPRL1; HM63; LXA4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P25090.2);
                     transmembrane region"
     misc_feature    1038..1118
                     /gene="FPR2"
                     /gene_synonym="ALX; ALXR; FMLP-R-II; FMLPX; FPR2A; FPRH1;
                     FPRH2; FPRL1; HM63; LXA4R"
                     /note="propagated from UniProtKB/Swiss-Prot (P25090.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1687..1692
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FPR2"
                     /gene_synonym="ALX; ALXR; FMLP-R-II; FMLPX; FPR2A; FPRH1;
                     FPRH2; FPRL1; HM63; LXA4R"
                     /note="hexamer: AATAAA"
     polyA_site      1708
                     /gene="FPR2"
                     /gene_synonym="ALX; ALXR; FMLP-R-II; FMLPX; FPR2A; FPRH1;
                     FPRH2; FPRL1; HM63; LXA4R"
     regulatory      1904..1909
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FPR2"
                     /gene_synonym="ALX; ALXR; FMLP-R-II; FMLPX; FPR2A; FPRH1;
                     FPRH2; FPRL1; HM63; LXA4R"
                     /note="hexamer: ATTAAA"
     polyA_site      1938
                     /gene="FPR2"
                     /gene_synonym="ALX; ALXR; FMLP-R-II; FMLPX; FPR2A; FPRH1;
                     FPRH2; FPRL1; HM63; LXA4R"
                     /note="major polyA site"
ORIGIN
        1 gttgctccac aggaagccaa gaagcacaca ggaaaaggag cttagctgct ggtgctgctg
       61 gcaagatgga aaccaacttc tccactcctc tgaatgaata tgaagaagtg tcctatgagt
      121 ctgctggcta cactgttctg cggatcctcc cattggtggt gcttggggtc acctttgtcc
      181 tcggggtcct gggcaatggg cttgtgatct gggtggctgg attccggatg acacgcacag
      241 tcaccaccat ctgttacctg aacctggccc tggctgactt ttctttcacg gccacattac
      301 cattcctcat tgtctccatg gccatgggag aaaaatggcc ttttggctgg ttcctgtgta
      361 agttaattca catcgtggtg gacatcaacc tctttggaag tgtcttcttg attggtttca
      421 ttgcactgga ccgctgcatt tgtgtcctgc atccagtctg ggcccagaac caccgcactg
      481 tgagtctggc catgaaggtg atcgtcggac cttggattct tgctctagtc cttaccttgc
      541 cagttttcct ctttttgact acagtaacta ttccaaatgg ggacacatac tgtactttca
      601 actttgcatc ctggggtggc acccctgagg agaggctgaa ggtggccatt accatgctga
      661 cagccagagg gattatccgg tttgtcattg gctttagctt gccgatgtcc attgttgcca
      721 tctgctatgg gctcattgca gccaagatcc acaaaaaggg catgattaaa tccagccgtc
      781 ccttacgggt cctcactgct gtggtggctt ctttcttcat ctgttggttt ccctttcaac
      841 tggttgccct tctgggcacc gtctggctca aagagatgtt gttctatggc aagtacaaaa
      901 tcattgacat cctggttaac ccaacgagct ccctggcctt cttcaacagc tgcctcaacc
      961 ccatgcttta cgtctttgtg ggccaagact tccgagagag actgatccac tccctgccca
     1021 ccagtctgga gagggccctg tctgaggact cagccccaac taatgacacg gctgccaatt
     1081 ctgcttcacc tcctgcagag actgagttac aggcaatgtg aggatggggt cagggatatt
     1141 ttgagttctg ttcatcctac cctaatgcca gttccagctt catctaccct tgagtcatat
     1201 tgaggcattc aaggatgcac agctcaagta tttattcagg aaaaatgctt ttgtgtccct
     1261 gatttggggc taagaaatag acagtcaggc tactaaaata ttagtgttat tttttgtttt
     1321 ttgacttctg cctataccct ggggtaagtg gagttgggaa atacaagaag agaaagacca
     1381 gtggggattt gtaagactta gatgagatag cgcataataa ggggaagact ttaaagtata
     1441 aagtaaaatg tttgctgtag gttttttata gctattaaaa aaaatcagat tatggaagtt
     1501 ttcttctatt tttagtttgc taagagtttt ctgtttcttt ttcttacatc atgagtggac
     1561 tttgcatttt atcaaatgca ttttctacat gtattaagat ggtcatatta ttcttcttct
     1621 tttatgtaaa tcattataaa taatgttcat taagttctga atgttaaact actcttgaat
     1681 tcctggaata aaccacactt agtcctgatg tactttaaat atttatatct cacaggagtt
     1741 ggttagaatt tctgtgttta tgtttatata ctgttatttc actttttcta ctatccttgc
     1801 taagttttca tagaaaataa ggaacaaaga gaaacttgta atggtctctg aaaaggaatt
     1861 gagaagtaat tcctctgatt ctgttttctg gtgttatatc tttattaaat attcagaaaa
     1921 attcaccagt gaagccaa
//
LOCUS       NM_001005743            3604 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens NUMB endocytic adaptor protein (NUMB), transcript
            variant 1, mRNA.
ACCESSION   NM_001005743
VERSION     NM_001005743.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3604)
  AUTHORS   Kliche J, Garvanska DH, Simonetti L, Badgujar D, Dobritzsch D,
            Nilsson J, Davey NE and Ivarsson Y.
  TITLE     Large-scale phosphomimetic screening identifies phospho-modulated
            motif-based protein interactions
  JOURNAL   Mol Syst Biol 19 (7), e11164 (2023)
   PUBMED   37219487
REFERENCE   2  (bases 1 to 3604)
  AUTHORS   He J, Yang L, Chang P, Yang S, Wang Y, Lin S, Tang Q and Zhang Y.
  TITLE     Zika Virus Induces Degradation of the Numb Protein Required through
            Embryonic Neurogenesis
  JOURNAL   Viruses 15 (6), 1258 (2023)
   PUBMED   37376558
  REMARK    GeneRIF: Zika Virus Induces Degradation of the Numb Protein Required
            through Embryonic Neurogenesis. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3604)
  AUTHORS   Filippone MG, Freddi S, Zecchini S, Restelli S, Colaluca IN,
            Bertalot G, Pece S, Tosoni D and Di Fiore PP.
  TITLE     Aberrant phosphorylation inactivates Numb in breast cancer causing
            expansion of the stem cell pool
  JOURNAL   J Cell Biol 221 (12) (2022)
   PUBMED   36200956
  REMARK    GeneRIF: Aberrant phosphorylation inactivates Numb in breast cancer
            causing expansion of the stem cell pool.
REFERENCE   4  (bases 1 to 3604)
  AUTHORS   Bubak MP, Stout K, Tomtschik J, Peterson E, Cardozo CP, Graham ZA
            and Gallagher P.
  TITLE     Notch, Numb and Numb-like responses to exercise-induced muscle
            damage in human skeletal muscle
  JOURNAL   Exp Physiol 107 (8), 800-806 (2022)
   PUBMED   35562322
  REMARK    GeneRIF: Notch, Numb and Numb-like responses to exercise-induced
            muscle damage in human skeletal muscle.
REFERENCE   5  (bases 1 to 3604)
  AUTHORS   Qin X and Cao Y.
  TITLE     Prognostic Biomarker NUMB Is Inhibited by Breast Cancer Cell
            Exosomes to Promote Breast Cancer Progression
  JOURNAL   J Immunol Res 2022, 6032076 (2022)
   PUBMED   35478938
  REMARK    GeneRIF: Prognostic Biomarker NUMB Is Inhibited by Breast Cancer
            Cell Exosomes to Promote Breast Cancer Progression. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 3604)
  AUTHORS   Dho SE, Jacob S, Wolting CD, French MB, Rohrschneider LR and McGlade
            CJ.
  TITLE     The mammalian numb phosphotyrosine-binding domain. Characterization
            of binding specificity and identification of a novel PDZ
            domain-containing numb binding protein, LNX
  JOURNAL   J Biol Chem 273 (15), 9179-9187 (1998)
   PUBMED   9535908
REFERENCE   7  (bases 1 to 3604)
  AUTHORS   Salcini AE, Confalonieri S, Doria M, Santolini E, Tassi E, Minenkova
            O, Cesareni G, Pelicci PG and Di Fiore PP.
  TITLE     Binding specificity and in vivo targets of the EH domain, a novel
            protein-protein interaction module
  JOURNAL   Genes Dev 11 (17), 2239-2249 (1997)
   PUBMED   9303539
REFERENCE   8  (bases 1 to 3604)
  AUTHORS   Zhong W, Feder JN, Jiang MM, Jan LY and Jan YN.
  TITLE     Asymmetric localization of a mammalian numb homolog during mouse
            cortical neurogenesis
  JOURNAL   Neuron 17 (1), 43-53 (1996)
   PUBMED   8755477
REFERENCE   9  (bases 1 to 3604)
  AUTHORS   Wong WT, Schumacher C, Salcini AE, Romano A, Castagnino P, Pelicci
            PG and Di Fiore PP.
  TITLE     A protein-binding domain, EH, identified in the receptor tyrosine
            kinase substrate Eps15 and conserved in evolution
  JOURNAL   Proc Natl Acad Sci U S A 92 (21), 9530-9534 (1995)
   PUBMED   7568168
REFERENCE   10  (bases 1 to 3604)
  AUTHORS   Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M,
            Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC,
            Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen
            D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HA, Haines
            JL, Perkicak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM and
            St George-Hyslop PH.
  TITLE     Cloning of a gene bearing missense mutations in early-onset familial
            Alzheimer's disease
  JOURNAL   Nature 375 (6534), 754-760 (1995)
   PUBMED   7596406
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF171938.1, SRR14038195.1519359.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000555238.6/ ENSP00000451300.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC068476.1, AF171938.1 and
            AA872908.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 13, 2020 this sequence version replaced NM_001005743.1.
            Summary: The protein encoded by this gene plays a role in the
            determination of cell fates during development. The encoded
            protein, whose degradation is induced in a proteasome-dependent
            manner by MDM2, is a membrane-bound protein that has been shown to
            associate with EPS15, LNX1, and NOTCH1. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Feb
            2016].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3604
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.2-q24.3"
     gene            1..3604
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="NUMB endocytic adaptor protein"
                     /db_xref="GeneID:8650"
                     /db_xref="HGNC:HGNC:8060"
                     /db_xref="MIM:603728"
     misc_feature    197..199
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="upstream in-frame stop codon"
     CDS             287..2242
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein numb homolog; h-Numb"
                     /codon_start=1
                     /product="protein numb homolog isoform 1"
                     /protein_id="NP_001005743.1"
                     /db_xref="CCDS:CCDS32116.1"
                     /db_xref="GeneID:8650"
                     /db_xref="HGNC:HGNC:8060"
                     /db_xref="MIM:603728"
                     /translation="MNKLRQSFRRKKDVYVPEASRPHQWQTDEEGVRTGKCSFPVKYLG
                     HVEVDESRGMHICEDAVKRLKAERKFFKGFFGKTGKKAVKAVLWVSADGLRVVDEKTKD
                     LIVDQTIEKVSFCAPDRNFDRAFSYICRDGTTRRWICHCFMAVKDTGERLSHAVGCAFA
                     ACLERKQKREKECGVTATFDASRTTFTREGSFRVTTATEQAEREEIMKQMQDAKKAETD
                     KIVVGSSVAPGNTAPSPSSPTSPTSDATTSLEMNNPHAIPRRHAPIEQLARQGSFRGFP
                     ALSQKMSPFKRQLSLRINELPSTMQRKTDFPIKNAVPEVEGEAESISSLCSQITNAFST
                     PEDPFSSAPMTKPVTVVAPQSPTFQANGTDSAFHVLAKPAHTALAPVAMPVRETNPWAH
                     APDAANKEIAATCSGTEWGQSSGAASPGLFQAGHRRTPSEADRWLEEVSKSVRAQQPQA
                     SAAPLQPVLQPPPPTAISQPASPFQGNAFLTSQPVPVGVVPALQPAFVPAQSYPVANGM
                     PYPAPNVPVVGITPSQMVANVFGTAGHPQAAHPHQSPSLVRQQTFPHYEASSATTSPFF
                     KPPAQHLNGSAAFNGVDDGRLASADRHTEVPTGTCPVDPFEAQWAALENKSKQRTNPSP
                     TNPFSSDLQKTFEIEL"
     misc_feature    590..592
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="Phosphothreonine, by AAK1.
                     /evidence=ECO:0000305|PubMed:18657069; propagated from
                     UniProtKB/Swiss-Prot (P49757.2); phosphorylation site"
     misc_feature    866..868
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49757.2); phosphorylation site"
     misc_feature    968..1057
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="propagated from UniProtKB/Swiss-Prot (P49757.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1013..1015
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9QZS3; propagated from
                     UniProtKB/Swiss-Prot (P49757.2); phosphorylation site"
     misc_feature    1016..1018
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P49757.2); phosphorylation site"
     misc_feature    1112..1114
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="Phosphoserine, by CaMK1.
                     /evidence=ECO:0000250|UniProtKB:Q2LC84; propagated from
                     UniProtKB/Swiss-Prot (P49757.2); phosphorylation site"
     misc_feature    1169..1171
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="Phosphoserine, by CaMK1.
                     /evidence=ECO:0000250|UniProtKB:Q2LC84; propagated from
                     UniProtKB/Swiss-Prot (P49757.2); phosphorylation site"
     misc_feature    1541..1735
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="propagated from UniProtKB/Swiss-Prot (P49757.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1559..1561
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49757.2); phosphorylation site"
     misc_feature    1592..1594
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49757.2); phosphorylation site"
     misc_feature    1598..1600
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P49757.2); phosphorylation site"
     misc_feature    2153..2239
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="propagated from UniProtKB/Swiss-Prot (P49757.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2186..2188
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P49757.2); phosphorylation site"
     regulatory      3585..3590
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="hexamer: AATAAA"
     polyA_site      3604
                     /gene="NUMB"
                     /gene_synonym="C14orf41; c14_5527; S171"
                     /note="major polyA site"
ORIGIN
        1 actggcggcc gaggtagagg cagtggcgct tgagttggtc gggggcagcg gcagatttga
       61 ggcttaagca acttcttccg gggaagagtg ccagtgcagc cactgttaca attcaagatc
      121 ttgatctata tccatagatt ggaatattgg tgggccagca atcctcagac gcctcactta
      181 ggacaaatga ggaaactgag gcttggtgaa gttacgaaac ttgtccaaaa tcacacaact
      241 tgtaaagggc acagccaaga ttcagagcca ggctgtaaaa attaaaatga acaaattacg
      301 gcaaagtttt aggagaaaga aggatgttta tgttccagag gccagtcgtc cacatcagtg
      361 gcagacagat gaagaaggcg ttcgcaccgg aaaatgtagc ttcccggtta agtaccttgg
      421 ccatgtagaa gttgatgaat caagaggaat gcacatctgt gaagatgctg taaaaagatt
      481 gaaagctgaa aggaagttct tcaaaggctt ctttggaaaa actggaaaga aagcagttaa
      541 agcagttctg tgggtctcag cagatggact cagagttgtg gatgaaaaaa ctaaggacct
      601 catagttgac cagacgatag agaaagtttc tttctgtgcc ccagacagga actttgatag
      661 agccttttct tacatatgcc gtgatggcac cactcgtcgc tggatctgtc actgcttcat
      721 ggctgtcaag gacacaggtg aaaggttgag ccatgcagta ggctgtgctt ttgcagcctg
      781 tttagagcgc aagcagaagc gggagaagga atgtggagtg actgctactt ttgatgctag
      841 tcggaccact tttacaagag aaggatcatt ccgtgtcaca acagccactg aacaagcaga
      901 aagagaggag atcatgaaac aaatgcaaga tgccaagaaa gctgaaacag ataagatagt
      961 cgttggttca tcagttgccc ctggcaacac tgccccatcc ccatcctctc ccacctctcc
     1021 tacttctgat gccacgacct ctctggagat gaacaatcct catgccatcc cacgccggca
     1081 tgctccaatt gaacagcttg ctcgccaagg ctctttccga ggttttcctg ctcttagcca
     1141 gaagatgtca ccctttaaac gccaactatc cctacgcatc aatgagttgc cttccactat
     1201 gcagaggaag actgatttcc ccattaaaaa tgcagtgcca gaagtagaag gggaggcaga
     1261 gagcatcagc tccctgtgct cacagatcac caatgccttc agcacacctg aggacccctt
     1321 ctcatctgct ccgatgacca aaccagtgac agtggtggca ccacaatctc ctaccttcca
     1381 agctaatggc actgactcag ccttccatgt gcttgctaag ccagcccata ctgctctagc
     1441 acccgtagca atgcctgtgc gtgaaaccaa cccttgggcc catgcccctg atgctgctaa
     1501 caaggaaatt gcagccacat gttcggggac cgagtggggt caatcttctg gtgctgcctc
     1561 tccaggtctc ttccaggccg gtcatagacg tactccctct gaggccgacc gatggttaga
     1621 agaggtgtct aagagcgtcc gggctcagca gccccaggcc tcagctgctc ctctgcagcc
     1681 agttctccag cctcctccac ccactgccat ctcccagcca gcatcacctt tccaagggaa
     1741 tgcattcctc acctctcagc ctgtgccagt gggtgtggtc ccagccctgc aaccagcctt
     1801 tgtccctgcc cagtcctatc ctgtggccaa tggaatgccc tatccagccc ctaatgtgcc
     1861 tgtggtgggc atcactccct cccagatggt ggccaacgta tttggcactg caggccaccc
     1921 tcaggctgcc catccccatc agtcacccag cctggtcagg cagcagacat tccctcacta
     1981 cgaggcaagc agtgctacca ccagtccctt ctttaagcct cctgctcagc acctcaacgg
     2041 ttctgcagct ttcaatggtg tagatgatgg caggttggcc tcagcagaca ggcatacaga
     2101 ggttcctaca ggcacctgcc cagtggatcc ttttgaagcc cagtgggctg cattagaaaa
     2161 taagtccaag cagcgtacta atccctcccc taccaaccct ttctccagtg acttacagaa
     2221 gacgtttgaa attgaacttt aagcaatcat tatggctatg tatcttgtcc ataccagaca
     2281 gggagcaggg ggtagcggtc aaaggagcaa aacagacttt gtctcctgat tagtactctt
     2341 ttcactaatc ccaaaggtcc caaggaacaa gtccaggccc agagtactgt gaggggtgat
     2401 tttgaaagac atgggaaaaa gcattcctag agaaaagctg ccttgcaatt aggctaaaga
     2461 agtcaaggaa atgttgcttt ctgtactccc tcttccctta cccccttaca aatctctggc
     2521 aacagagagg caaagtatct gaacaagaat ctatattcca agcacattta ctgaaatgta
     2581 aaacacaaca ggaagcaaag caatctccct ttgtttttca ggccattcac ctgcctcctg
     2641 tcagtagtgg cctgtattag agatcaagaa gagtggtttg tgctcaggct ggggaacaga
     2701 gaggcacgct atgctgccag aattcccagg agggcatatc agcaactgcc cagcagagct
     2761 atattttggg ggagaagttg agcttccatt ttgagtaaca gaataaatat tatatatatc
     2821 aaaagccaaa atctttattt ttatgcattt agaatatttt aaatagttct cagatattaa
     2881 gaagttgtat gagttgtaag taatcttgcc aaaggtaaag gggctagttg taagaaattg
     2941 tacataagat tgatttatca ttgatgccta ctgaaataaa aagaggaaag gctggaagct
     3001 gcagacagga tccctagctt gttttctgtc agtcattcat tgtaagtagc acattgcaac
     3061 aacaatcatg cttatgacca atacagtcac taggttgtag ttttttttaa ataaaggaaa
     3121 agcagtattg tcctggtttt aaacctatga tggaattcta atgtcattat tttaatggaa
     3181 tcaatcgaaa tatgctctat agagaatata tcttttatat attgctgcag tttccttatg
     3241 ttaatccttt aacactaagg taacatgaca taatcatacc atagaaggga acacaggtta
     3301 ccatattggt ttgtaatatg ggtcttggtg ggttttgttt tatcctttaa attttgttcc
     3361 catgagtttt gtggggatgg ggattctggt tttattagct ttgtgtgtgt cctcttcccc
     3421 caaaccccct tttggtgaga acatcccctt gacagttgca gcctcttgac ctcggataac
     3481 aataagagag ctcatctcat ttttactttt gaacgttggc cttacaatca aatgtaagtt
     3541 atatatattt gtactgatga aaatttataa tctgctttaa caaaaataaa tgttcatggt
     3601 agaa
//
LOCUS       NM_001005751            4642 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens WASH complex subunit 2A (WASHC2A), transcript variant
            1, mRNA.
ACCESSION   NM_001005751
VERSION     NM_001005751.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4642)
  AUTHORS   Aleksic T, Gray N, Wu X, Rieunier G, Osher E, Mills J, Verrill C,
            Bryant RJ, Han C, Hutchinson K, Lambert AG, Kumar R, Hamdy FC,
            Weyer-Czernilofsky U, Sanderson MP, Bogenrieder T, Taylor S and
            Macaulay VM.
  TITLE     Nuclear IGF1R Interacts with Regulatory Regions of Chromatin to
            Promote RNA Polymerase II Recruitment and Gene Expression Associated
            with Advanced Tumor Stage
  JOURNAL   Cancer Res 78 (13), 3497-3509 (2018)
   PUBMED   29735545
  REMARK    GeneRIF: Study reports that nuclear IGF1R associates with advanced
            tumor stage and is recruited selectively to regulatory regions of
            chromatin including JUN and FAM21A promoters. JUN and FAM21A
            identified as mediators of cell survival and IGF-induced migration,
            properties that tumors require to attain advanced stage.
REFERENCE   2  (bases 1 to 4642)
  AUTHORS   Shin JJH, Gillingham AK, Begum F, Chadwick J and Munro S.
  TITLE     TBC1D23 is a bridging factor for endosomal vesicle capture by
            golgins at the trans-Golgi
  JOURNAL   Nat Cell Biol 19 (12), 1424-1432 (2017)
   PUBMED   29084197
  REMARK    Erratum:[Nat Cell Biol. 2018 Jan 8;:. PMID: 29311657]
REFERENCE   3  (bases 1 to 4642)
  AUTHORS   McNally KE, Faulkner R, Steinberg F, Gallon M, Ghai R, Pim D,
            Langton P, Pearson N, Danson CM, Nagele H, Morris LL, Singla A,
            Overlee BL, Heesom KJ, Sessions R, Banks L, Collins BM, Berger I,
            Billadeau DD, Burstein E and Cullen PJ.
  TITLE     Retriever is a multiprotein complex for retromer-independent
            endosomal cargo recycling
  JOURNAL   Nat Cell Biol 19 (10), 1214-1225 (2017)
   PUBMED   28892079
REFERENCE   4  (bases 1 to 4642)
  AUTHORS   Lee S, Chang J and Blackstone C.
  TITLE     FAM21 directs SNX27-retromer cargoes to the plasma membrane by
            preventing transport to the Golgi apparatus
  JOURNAL   Nat Commun 7, 10939 (2016)
   PUBMED   26956659
  REMARK    GeneRIF: SNX27 interaction with FAM21 is required for the precise
            localization of SNX27 at an endosomal subdomain. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 4642)
  AUTHORS   Phillips-Krawczak CA, Singla A, Starokadomskyy P, Deng Z, Osborne
            DG, Li H, Dick CJ, Gomez TS, Koenecke M, Zhang JS, Dai H,
            Sifuentes-Dominguez LF, Geng LN, Kaufmann SH, Hein MY, Wallis M,
            McGaughran J, Gecz J, Sluis Bv, Billadeau DD and Burstein E.
  TITLE     COMMD1 is linked to the WASH complex and regulates endosomal
            trafficking of the copper transporter ATP7A
  JOURNAL   Mol Biol Cell 26 (1), 91-103 (2015)
   PUBMED   25355947
REFERENCE   6  (bases 1 to 4642)
  AUTHORS   Derivery E, Sousa C, Gautier JJ, Lombard B, Loew D and Gautreau A.
  TITLE     The Arp2/3 activator WASH controls the fission of endosomes through
            a large multiprotein complex
  JOURNAL   Dev Cell 17 (5), 712-723 (2009)
   PUBMED   19922875
REFERENCE   7  (bases 1 to 4642)
  AUTHORS   Gomez TS and Billadeau DD.
  TITLE     A FAM21-containing WASH complex regulates retromer-dependent sorting
  JOURNAL   Dev Cell 17 (5), 699-711 (2009)
   PUBMED   19922874
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.134940.1,
            SRR1803612.59923.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000282633.10/ ENSP00000282633.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC336167.1, BC082258.1, BC075815.1 and BC065500.1.
            On Nov 22, 2018 this sequence version replaced NM_001005751.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4642
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.23"
     gene            1..4642
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="WASH complex subunit 2A"
                     /db_xref="GeneID:387680"
                     /db_xref="HGNC:HGNC:23416"
     CDS             53..4078
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="isoform 1 is encoded by transcript variant 1; WASH
                     complex subunit FAM21A; family with sequence similarity 21,
                     member B; WASH complex subunit FAM21B; alternative protein
                     FAM21B; family with sequence similarity 21 member A"
                     /codon_start=1
                     /product="WASH complex subunit 2A isoform 1"
                     /protein_id="NP_001005751.1"
                     /db_xref="CCDS:CCDS41527.1"
                     /db_xref="GeneID:387680"
                     /db_xref="HGNC:HGNC:23416"
                     /translation="MMNRTTPDQELAPASEPVWERPWSVEEIRRSSQSWSLAADAGLLQ
                     FLQEFSQQTISRTHEIKKQVDGLIRETKATDCRLHNVFNDFLMLSNTQFIENRVYDEEV
                     EEPVLKAEAEKTEQEKTREQKEVDLIPKVQEAVNYGLQVLDSAFEQLDIKAGNSDSEED
                     DANGRVELILEPKDLYIDRPLPYLIGSKLFMEQEDVGLGELSSEEGSVGSDRGSIVDTE
                     EEKEEEESDEDFAHHSDNEQNRHTTQMSDEEEDDDGCDLFADSEKEEEDIEDIEENTRP
                     KRSRPTSFADELAARIKGDAVGRVDEEPTTLPSGEAKPRKTLKEKKERRTPSDDEEDNL
                     FAPPKLTDEDFSPFGSGGGLFSGGKGLFDDEDEESDLFTEAPQDRQAGASVKEESSSSK
                     PGKKIPAGAVSVFLGDTDVFGAASVPSMKEPQKPEQPTPRKSPYGPPPTGLFDDDDGDD
                     DDDFFSAPHSKPSKTGKVQSTADIFGDEEGDLFKEKAVASPEATVSQTDENKARAEKKV
                     TLSSSKNLKPSSETKTQKGLFSDEEDSEDLFSSQSASKLKGASLLPGKLPTLVSLFDDE
                     DEEDNLFGGTAAKKQTLCLQAQREEKAKASELSKKKASALLFSSDEEDQWNIPASQTHL
                     ASDSRSKGEPRDSGTLQSQEAKAVKKTSLFEEDEEDDLFAIAKDSQKKTQRVSLLFEDD
                     VDSGGSLFGSPPTSVPPATKKKETVSEAPPLLFSDEEEKEAQLGVKSVDKKVESAKESL
                     KFGRTDVAESEKEGLLTRSAQETVKHSDLFSSSSPWDKGTKPRTKTVLSLFDEEEDKME
                     DQNIIQAPQKEVGKGRDPDAHPKSTGVFQDEELLFSHKLQKDNDPDVDLFAGTKKTKLL
                     EPSVGSLFGDDEDDDLFSSAKSQPLVQEKKRVVKKDHSVDSFKNQKHPESIQGSKEKGI
                     WKPETPQDSSGLAPFKTKEPSTRIGKIQANLAINPAALLPTAASQISEVKPVLPELAFP
                     SSEHRRSHGLESVPVLPGSGEAGVSFDLPAQADTLHSANKSRVKMRGKRRPQTRAARRL
                     AAQESSETEDMSVPRGPIAQWADGAISPNGHRPQLRAASGEDSTEEALAAAAAPWEGGP
                     VPGVDRSPFAKSLGHSRGEADLFDSGDIFSTGTGSQSVERTKPKAKIAENPANPPVGGK
                     AKSPMFPALGEASSDDDLFQSAKPKPAKKTNPFPLLEDEDDLFTDQKVKKNETKSNSQQ
                     DVILTTQDIFEDDIFATEAIKPSQKTREKEKTLESNLFDDNIDIFADLTVKPKEKSKKK
                     VEAKSIFDDDMDDIFSSGIQAKTTKPKSRSAQAAPEPRFEHKVSNIFDDPLNAFGGQ"
     misc_feature    53..712
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: Sufficient for interaction with WASHC3, WASHC4 and
                     WASHC5, required for interaction with WASHC1.
                     /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    656..1267
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1118..2278
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: Required for interaction with CCDC22 and VPS35L.
                     /evidence=ECO:0000269|PubMed:25355947"
     misc_feature    1118..1852
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: Sufficient for interaction with CCDC93.
                     /evidence=ECO:0000269|PubMed:25355947"
     misc_feature    1121..4075
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: Interaction with VPS35.
                     /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    1151..1186
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 1. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    1283..1309
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 2. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    1316..1714
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1400..1441
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 3. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    1496..1525
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 4. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    1661..1696
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 5. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    1667..1669
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     phosphorylation site"
     misc_feature    1766..1801
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 6. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    1901..1939
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 7. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    1913..2044
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2042..2074
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 8. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    2120..2158
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 9. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    2138..2269
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2228..2266
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 10. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    2303..2566
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2459..2503
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 11. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    2567..2593
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 12. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    2618..2638
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 13. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    2684..2716
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 14. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    2693..2905
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2861..4075
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: Interaction with phospholipids.
                     /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    3014..3667
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3137..3193
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: Required for interaction with F-actin-capping
                     protein subunit alpha (CAPZA1 or CAPZA2 or CAPZA3).
                     /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    3212..3214
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q641Q2.3); phosphorylation site"
     misc_feature    3311..3313
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q641Q2.3); phosphorylation site"
     misc_feature    3392..3394
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     phosphorylation site"
     misc_feature    3437..3460
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 15. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    3563..3607
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 16. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    3653..3679
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 17. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    3752..3772
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 18. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    3836..3862
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 19. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    3920..3949
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 20. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     misc_feature    3956..4030
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4040..4066
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q641Q2.3);
                     Region: LFa 21. /evidence=ECO:0000250|UniProtKB:Q9Y4E1"
     regulatory      4262..4267
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="hexamer: AATAAA"
     polyA_site      4279
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="major polyA site"
     regulatory      4615..4620
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="hexamer: AATAAA"
     polyA_site      4642
                     /gene="WASHC2A"
                     /gene_synonym="bA56A21.1; bA98I6.1; FAM21A; FAM21B"
                     /note="major polyA site"
ORIGIN
        1 agtcctcggc gtgtgctggc agcttcggag cccaccgagc cgggcggcta ggatgatgaa
       61 ccggacgacc cccgaccagg agctggcgcc agcgtcggag cccgtgtggg agcggccgtg
      121 gtcggtggag gagatccgca ggagcagcca gagctggtcg ctggcggccg acgcgggcct
      181 actacagttt ctacaggaat tctcacagca aactatctct aggacccatg aaatcaagaa
      241 acaagtggac ggactaattc gggaaaccaa agccacagat tgtcgcctgc ataatgtctt
      301 caatgacttc cttatgctct ctaataccca gttcattgag aatcgtgtat atgatgaaga
      361 agtggaggag ccagtactca aggctgaggc agaaaaaaca gagcaggaga agacacgaga
      421 gcagaaagaa gtagatctca ttcctaaagt ccaggaggct gtgaactatg gcttacaagt
      481 attggacagt gcctttgagc aacttgatat caaagcagga aactcagact ccgaggaaga
      541 tgatgctaat gggcgggtgg aactgatcct tgaaccaaag gatctataca ttgatcgtcc
      601 tttaccatat ctcattgggt caaagctgtt catggaacaa gaagatgtag gtcttggaga
      661 gctgtccagt gaagaaggct ctgtaggcag tgatcgtggc agtattgtgg acactgagga
      721 agagaaagaa gaggaggagt cagatgaaga ttttgcccat catagtgaca atgaacaaaa
      781 ccggcacacc acacaaatga gtgatgagga agaggatgat gatggctgtg accttttcgc
      841 tgactctgag aaggaggagg aagatattga ggacattgaa gaaaatacta gacctaaaag
      901 aagcagacct acatcgtttg cagatgagct ggctgcccgc atcaaggggg atgccgtggg
      961 tcgagtggac gaggagccga caaccttacc ctcaggagaa gcaaaacctc ggaagacact
     1021 caaagagaag aaggaaagga gaactccttc agacgatgaa gaggataact tattcgcacc
     1081 ccccaagctg accgacgagg acttctcgcc atttggctct ggaggtggcc tgttcagtgg
     1141 gggcaagggg ctctttgatg atgaggacga ggagagtgac ctcttcacgg aagcccccca
     1201 ggatcggcaa gctggagcct ctgttaagga ggagtcttca tcatccaaac ctggaaagaa
     1261 aatcccagca ggagctgttt ctgtattttt aggagacacg gatgtgtttg gtgctgcctc
     1321 cgttccatca atgaaggagc cacagaagcc tgagcagccc actccaagga aaagccccta
     1381 tggtccccct cccactggcc tctttgatga tgatgatggt gatgatgatg acgacttttt
     1441 ctcggcaccc cacagcaaac cttctaaaac aggcaaagtc caatccactg ccgatatctt
     1501 tggtgacgaa gaaggagatc tgttcaaaga aaaagccgta gcatcgccag aagccactgt
     1561 gagtcagaca gatgaaaata aagcaagagc agaaaaaaag gttaccttat cttccagcaa
     1621 aaatctcaag ccctcatcag aaacaaagac tcaaaaaggc ttattttcag atgaggagga
     1681 ctctgaggat ttgttttctt ctcaaagtgc gagtaagtta aaaggtgcgt ctctgctgcc
     1741 tggcaagctc cccacgttgg tttccctgtt tgatgatgaa gatgaagagg ataatctttt
     1801 tgggggtaca gctgctaaga agcagacatt gtgtctacaa gctcagagag aagagaaagc
     1861 aaaagcctcc gagctctcca aaaagaaagc atctgccctg ttgttcagca gtgatgagga
     1921 ggaccagtgg aatattcctg cttcacagac ccacttagca tctgacagca ggtctaaagg
     1981 agaacccagg gattctggga ccctccagag ccaggaggcc aaggctgtga aaaagaccag
     2041 tctctttgag gaagacgaag aagatgatct ttttgccatt gccaaggaca gccaaaagaa
     2101 gacccagaga gtgtcactcc tctttgaaga cgatgttgat agcggaggct ctctgtttgg
     2161 ctctcctccc acatctgttc ctcctgcaac aaagaaaaaa gagactgtct ctgaggcacc
     2221 acctttgctg ttcagcgatg aagaagagaa ggaggcacaa cttggagtga agtctgtgga
     2281 taagaaggtt gagagtgcca aggagtcatt aaaatttggg agaactgatg tggctgagtc
     2341 agaaaaggaa ggacttttga ctagatctgc tcaggaaaca gtcaagcatt ctgatttatt
     2401 ttcttcatca tccccatggg acaaaggaac caagcctaga accaaaactg ttcttagctt
     2461 gtttgatgag gaagaggata aaatggaaga tcaaaacatt atccaggctc cacagaaaga
     2521 agtaggaaag ggccgcgatc ctgatgccca ccccaagagc acaggtgtct tccaggatga
     2581 agagctgctt ttcagccaca agctccaaaa ggacaatgac ccagatgttg acctttttgc
     2641 tggcaccaaa aaaaccaagc tgttagagcc aagtgttggg agcctgtttg gggatgatga
     2701 agatgatgat cttttcagct ctgccaagtc ccagcctttg gtacaagaga aaaagagagt
     2761 agtgaaaaaa gaccactctg ttgactcttt caaaaaccag aaacatcctg aatccattca
     2821 aggtagtaaa gaaaaaggca tatggaagcc ggaaacacct caggactcat caggtctcgc
     2881 tccatttaaa accaaagaac catccactcg gatcgggaag atacaagcaa atttagcgat
     2941 caacccagcg gccttgctgc ccacagcggc ttcccagatc tctgaagtaa agcctgtttt
     3001 gccagaattg gcttttcctt catctgaaca cagaaggagc cacggtctgg aaagtgtgcc
     3061 tgtccttccc gggagtgggg aggccggtgt gagttttgat cttccagctc aggcagacac
     3121 cttacacagt gcaaacaaga gccgtgtcaa gatgagaggg aagcgtagac cgcagacccg
     3181 tgcagctagg cggctggctg ctcaggagtc cagcgagact gaggacatga gcgtccccag
     3241 aggacccatt gcacagtggg ctgatggcgc catttcccca aatggccatc ggccacagct
     3301 cagagcagcc agtggagaag acagcactga ggaggccctg gcagctgccg ctgcaccttg
     3361 ggaaggtggt cctgtgcctg gagtggacag aagccccttt gcaaagtctc tgggtcattc
     3421 cagaggggag gctgaccttt ttgattctgg ggacatcttt tccacgggca ctggatctca
     3481 gtctgtggag agaacaaaac ccaaggcaaa gatagcagag aatcctgcca acccaccagt
     3541 gggtggtaaa gcaaagagcc ccatgtttcc tgctctaggt gaggccagca gtgatgatga
     3601 tctctttcag tctgctaaac caaaaccagc aaagaaaaca aatccctttc ctctcctgga
     3661 agatgaggat gacctcttta cagatcagaa agtcaagaag aatgagacaa aatccaatag
     3721 tcagcaggat gtcatattaa caacacaaga tatttttgag gatgatatat ttgctacgga
     3781 agcaattaaa ccctctcaga aaaccagaga gaaggagaaa acattggaat ctaatttatt
     3841 tgatgataac attgatatct ttgctgactt aactgtaaaa ccaaaagaaa agtccaaaaa
     3901 gaaagtggaa gccaagtcta tatttgatga tgatatggat gacatcttct cctctggtat
     3961 ccaggctaag acaaccaaac caaaaagccg atctgcacag gccgcacctg aaccaagatt
     4021 tgaacacaag gtgtccaaca tctttgatga tcccctgaat gcctttggag gccagtagag
     4081 cacacagggt atccacatgt taccctgcag ctacattgtt gagttagtga tgatgttgta
     4141 tatgctgatg gtcttaactg gattacaaaa agcaaatact agaacagcta gctcatcgtt
     4201 cacccaatgt acttggtatt tttctgcact ggtttaatca tgcttaatac tacaaaacaa
     4261 aaataaatat ttcacagtgg ttggtttgtt ttgtttttaa accacagttt gatttagtta
     4321 gccttgctgg ggccataata tgcttcaggg tgtgtaaaag aagaaatctc tttgtggctt
     4381 tcatgggcag ggaatcccag agatagcaaa tgccacctga ccagaagtct ttgttatatg
     4441 gatgggaacc ctaacttagg gcctgggcag gggaaagaga aagaaggtga gagattatac
     4501 ttcatgagtc ttagcaatat gggagcaggt tttcactgaa ttctgagggt gcctctgcat
     4561 gtcctccaag gcaaagtttg gcaaactgtg gcccccccac tgtcatattt tgttaataaa
     4621 attttattgg aacacaacca ca
//
LOCUS       NM_001005850            3448 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 835 (ZNF835), mRNA.
ACCESSION   NM_001005850
VERSION     NM_001005850.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3448)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.27005.1,
            SRR1803617.44911.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2159764,
            SAMN03267751 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000537055.4/ ENSP00000444747.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007228.1, AK299565.1, DC382896.1, AK023017.1 and DB536138.1.
            On Nov 23, 2018 this sequence version replaced NM_001005850.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3448
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     gene            1..3448
                     /gene="ZNF835"
                     /gene_synonym="BC37295_3"
                     /note="zinc finger protein 835"
                     /db_xref="GeneID:90485"
                     /db_xref="HGNC:HGNC:34332"
     CDS             230..1843
                     /gene="ZNF835"
                     /gene_synonym="BC37295_3"
                     /codon_start=1
                     /product="zinc finger protein 835"
                     /protein_id="NP_001005850.2"
                     /db_xref="CCDS:CCDS56105.1"
                     /db_xref="GeneID:90485"
                     /db_xref="HGNC:HGNC:34332"
                     /translation="MEGLLSVALQGAELEGNWKHEGQVEDLQENQESCPEPEAVACKGD
                     PAGDSMQERDEFSRIPRTISSPAATQASVPDDSSSRRCSAPGESPKERHPDSRQRERGG
                     GPKKPWKCGDCGKAFSYCSAFILHQRIHTGEKPFACPECGKAFSQSVHLTLHQRTHTGE
                     KPYACHECGKAFSQGSYLASHWRTHTGEKPHRCADCGKAFTRVTHLTQHRRVHTGERPY
                     ACAQCAKAFRNRSSLIEHQRIHTGEKPYECSACAKAFRFSSALIRHQRIHTEEKPYRCG
                     QCAKAFAQIAHLTQHRRVHTGEKPYTCQDCGALFSQSASLAEHRRIHTGEKPYACGQCA
                     KAFTQVSHLTQHQRTHTGERPYPCHDCGKRFSNRSHLLQHRLVHTGERPYRCLQCGAAF
                     SHVSSLIEHQKIHTGERPYKCGECGKAFSQGSSLALHQRTHTGERPYTCPECGKAFSNR
                     SYLIQHHIVHTGEKPYECSGCGKAFSFSSALIRHQRTHADSSGRLCPAPTPDSTPGLSQ
                     GGETCQQGCPGRNPRGPAED"
     misc_feature    263..556
                     /gene="ZNF835"
                     /gene_synonym="BC37295_3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2P0.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1718..1840
                     /gene="ZNF835"
                     /gene_synonym="BC37295_3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2P0.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2754..2759
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF835"
                     /gene_synonym="BC37295_3"
                     /note="hexamer: AATAAA"
     polyA_site      2780
                     /gene="ZNF835"
                     /gene_synonym="BC37295_3"
                     /note="major polyA site"
     regulatory      3423..3428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF835"
                     /gene_synonym="BC37295_3"
                     /note="hexamer: ATTAAA"
     polyA_site      3448
                     /gene="ZNF835"
                     /gene_synonym="BC37295_3"
                     /note="major polyA site"
ORIGIN
        1 ctggtgcgcg ggctcctccg cagcagcaga agtcttgacc ttagctcgtc taaggaagga
       61 ggcaccaggg tctgcgttgg cccaggagga cccgagactg agtagaagcg gagccgactg
      121 caccaggcta ggagggggcc ggccagcgcg ttcgaaggtg ataccgggag gcgagagcaa
      181 cgacccagag aaaagatgtg agatcaagac agcagcccag ggatcgagga tggagggact
      241 cttgagcgtc gccctccagg gcgcagagtt ggaaggaaac tggaaacacg agggccaggt
      301 tgaggacctg caggaaaacc aggaaagctg tccagagcca gaggccgtgg cctgcaaggg
      361 agaccctgct ggggacagca tgcaggaacg cgatgaattc agccgaatcc caagaaccat
      421 atcgagccct gctgctaccc aagccagtgt ccccgacgac agcagttccc ggaggtgcag
      481 cgcgcctggg gagagcccga aggagaggca tcctgacagc cgccagcggg agagaggtgg
      541 aggccccaag aagccgtgga aatgcgggga ctgcgggaag gccttcagct actgttcagc
      601 gttcatctta caccagagaa tccacaccgg ggagaagcca tttgcgtgcc ccgagtgcgg
      661 caaggccttc agccagagcg tgcacctgac cctgcaccag cgcacgcaca cgggcgagaa
      721 gccctacgcc tgccacgagt gcggcaaggc cttcagccag ggctcgtacc tggcgtccca
      781 ctggcgcacg cacacgggcg agaagccgca ccgctgcgcc gactgcggca aggccttcac
      841 gcgcgtcacg cacctgaccc agcaccggcg cgtgcacacg ggcgagcggc cctacgcgtg
      901 cgcccagtgc gccaaggcgt tccgcaaccg ctcgtccctg atagagcacc agcgcatcca
      961 caccggtgag aagccctacg agtgctccgc gtgcgccaag gccttccgct tctcctcagc
     1021 gctcatccgc caccagcgca tccacacgga ggagaagccc taccgctgcg gccagtgcgc
     1081 caaggccttc gcgcagatcg cgcacctgac ccagcaccgg cgcgtgcaca cgggcgagaa
     1141 gccctacacg tgccaggact gcggcgcgct cttcagccag agcgcctctc tggccgagca
     1201 ccggcgcatc cacacaggcg agaagcccta cgcgtgcggc cagtgcgcca aggccttcac
     1261 ccaggtgtcg cacctgacgc agcaccagcg cacgcacacc ggagagcggc cttacccctg
     1321 ccacgactgc ggcaagcgct tcagcaaccg ctcccacctc ctccagcacc gcctcgtgca
     1381 caccggtgag cggccctaca ggtgcctgca atgcggggcc gccttcagcc acgtgtcctc
     1441 gcttatagag caccagaaga tccacaccgg agagcggccc tacaagtgcg gcgagtgcgg
     1501 caaagctttc agccagggct cctcgctcgc cctgcaccag cgcacgcaca cgggcgagcg
     1561 gccctacacc tgccccgagt gcggcaaggc cttcagcaac cgctcctacc tgatccagca
     1621 ccacatcgtg cacaccgggg agaagcccta cgagtgcagc ggctgcggga aggccttcag
     1681 cttctcctcc gcgctcatcc gacaccagag gacgcatgca gacagttcgg gacgcctttg
     1741 cccagctccc acgcctgact caacacctgg gctctcacag ggaggagaaa cctgtcaaca
     1801 ggggtgccct ggcagaaacc cgcgtggacc agcagaagat taagagctga gggcctcctt
     1861 tccaacctca caatgctatg ggggagatac tgtgttatcc ccgacgcttc ctgtgaggaa
     1921 accgaggctc agagaagctt gttaacttgc ctgagggcac acagtgggga agacacaggg
     1981 ctaagactgt acctcacatc tgccagactc ccctgcggtc ttcctggtgc aaaattataa
     2041 atggggcacg ggcaagtaga cctgcagaaa cacctatggc tggcctttaa tttctttctt
     2101 tttttctttg agacagtgtc tctctctgtc acccaggcta gagtgcagtg gagcgatctc
     2161 ggctcactga aacttctgcc tcccgggtac aagtgattct cctgcctcaa cctcccgagt
     2221 agttaaaatt acaggagtct ggctaatttt tttttttttt tttttctgag acggagtctt
     2281 gctctgtcgc ccaggctgga gtgcagtgat gcaatctcgg ctcactgcaa cctccgcctc
     2341 ccgggttcaa gtgattcccc tacctcagcc tcccgagtag ctgggactac aggcgcccgg
     2401 ccaccacacc cggactagtt tttttgtatt ttagtagagg cggggtttca ccatgttggc
     2461 taggatggtc tcgatctcct gacttcgtta tccacccgcc tcggcctccc aaagtgctgg
     2521 gattacaggc atgagccacc gcgcccagcc taatttttgt atttttagta gaggcagggt
     2581 ttcaccatgt tggccaggct gtctcgaact cctaacatca ggcgatctgc ctgccttggc
     2641 atcccaaagt gctgggacta caggcctgag ctacggtgcc tggccagctg gccttttcat
     2701 tgttgatttt attgagtaag cccttgctca gtaaatttaa ttgaattaaa gtgaataaaa
     2761 ggtttggttt ctttggccaa gttggcatat ttactaaagg agcagagtct gaagaagaaa
     2821 tctggattca ctaagataga aatagtgctt agagaaaatg agcaggagaa atctagagct
     2881 gaaagttatt ctagaagaag ggagtgcttc tcctctacaa aagattttta gagtgggcct
     2941 agtctttttt tcagtatgag gaaacaccta cccatctcca ccatttttcc ccctaactca
     3001 aagacctgac tttaatgctt gtatcagtca gctcttgctg tgtaacaaac catccagccc
     3061 tcatttatcc atttactatt tctcatgcat ctggaggtca gctgctggtt ctgttggtct
     3121 ggaccaggct tggtctggac ctggaccagg agggctcagc tgggccaatt tgatcttctt
     3181 ctcctgactc acatctcacc tgggtgtgtt ctcagggagg tggcaggagt ctgagaggga
     3241 gtggacacac aggcatgctt tcaagtctct gatattgtca catttgcatc tagtcccaca
     3301 ggccaaagca agcctcctag ccaagcctag gatcagcaca ggaagagcct tcctaagcat
     3361 gtggtcccag ggaagggtga aaagtaggag ttatgaacgt aatccaccta ctacaatgtt
     3421 gaattaaagt tataatctca taacttca
//
LOCUS       NM_001005851            8687 bp    mRNA    linear   PRI 16-FEB-2021
DEFINITION  Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.
ACCESSION   NM_001005851
VERSION     NM_001005851.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8687)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr
            M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano
            A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin
            E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D,
            Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M,
            Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J,
            Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou
            Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J,
            Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP,
            Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers
            S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V,
            Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J,
            Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M,
            Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar
            DS, Myers RM, Rubin EM and Lucas SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CB053506.1, CB053507.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000434248.6/ ENSP00000391641.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005614.1, CB053507.1, BC136960.1 and AC007842.1.
            On Nov 22, 2018 this sequence version replaced NM_001005851.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8687
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..8687
                     /gene="ZNF780B"
                     /gene_synonym="ZNF779"
                     /note="zinc finger protein 780B"
                     /db_xref="GeneID:163131"
                     /db_xref="HGNC:HGNC:33109"
     misc_feature    29..31
                     /gene="ZNF780B"
                     /gene_synonym="ZNF779"
                     /note="upstream in-frame stop codon"
     CDS             89..2590
                     /gene="ZNF780B"
                     /gene_synonym="ZNF779"
                     /note="zinc finger protein 779"
                     /codon_start=1
                     /product="zinc finger protein 780B"
                     /protein_id="NP_001005851.1"
                     /db_xref="CCDS:CCDS46077.1"
                     /db_xref="GeneID:163131"
                     /db_xref="HGNC:HGNC:33109"
                     /translation="MVHGSVTFRDVAIDFSQEEWECLQPDQRTLYRDVMLENYSHLISL
                     GSSISKPDVITLLEQEKEPWIVVSKETSRWYPDLESKYGPEKISPENDIFEINLPKHVI
                     KQISKTLGLEAFYFRNDSEYRSRFEGRQGHQEGYINQKIISYEEMPAYTHASPIHNTHK
                     PYECKECGKYFSCGSNLIQHQSIHTGEKPYKCKECGKAFQLHIQLTRHQKFHTGEKTFE
                     CKECGKAFNLPTQLNRHKNIHTVKKLFECKECGKSFNRSSNLTQHQSIHAGVKPYQCKE
                     CGKAFNRGSNLIQHQKIHSNEKPFVCRECEMAFRYHYQLIEHCRIHTGEKPFECKECRK
                     AFTLLTKLVRHQKIHMGEKPFECRECGKAFSLLNQLNRHKNIHTGEKPFECKECGKSFN
                     RSSNLIQHQSIHADVKPYECKECGKGFNRGANLIQHQKIHSNEKPFVCRECEMAFRYHY
                     QLIQHCQIHTGGKPFECKECGKAFSLLTQLARHKNIHTGEKPFECKDCGKAFNRGSNLV
                     QHQSIHTGEKPYECKECGKAFRLHLQLSQHEKTHTGEKPFECKECGKFFRRGSNLNQHR
                     SIHTGKKPFECKECGKAFRLHMHLIRHQKFHTGEKPFECKECGKAFSLHTQLNHHKNIH
                     TGEKPFKCKECGKSFNRVSNLVQHQSIHAGVKPYECKECGKGFSRVSNLIQHQKTHSSA
                     KPFVCKECRKTFRYHYQLTEHYRIHTGEKPFECKECGKAFGLLTQLAQHQIIHTGEKPF
                     KCKECGKAFNRGSNLVQPQSIHTGEKPYECKECGKAFRLHLQLSLHQKLVQVRNPLNVR
                     NVGQPSDISSNLLNIRKFILG"
     regulatory      6020..6025
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF780B"
                     /gene_synonym="ZNF779"
                     /note="hexamer: TATAAA"
     polyA_site      6044
                     /gene="ZNF780B"
                     /gene_synonym="ZNF779"
                     /note="major polyA site"
     regulatory      6786..6791
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF780B"
                     /gene_synonym="ZNF779"
                     /note="hexamer: AATAAA"
     polyA_site      6810
                     /gene="ZNF780B"
                     /gene_synonym="ZNF779"
     regulatory      7856..7861
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF780B"
                     /gene_synonym="ZNF779"
                     /note="hexamer: AATGAA"
     polyA_site      7874
                     /gene="ZNF780B"
                     /gene_synonym="ZNF779"
     regulatory      8663..8668
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF780B"
                     /gene_synonym="ZNF779"
                     /note="hexamer: AATAAA"
     polyA_site      8687
                     /gene="ZNF780B"
                     /gene_synonym="ZNF779"
ORIGIN
        1 agcggttcca cttcctgtct cctggggttg acgacctagc tgggggagaa gcccgaggaa
       61 gattgaccaa ttttgtaatt ctagaaacat ggtccatgga tcagtgacat tcagggatgt
      121 ggccattgac ttctctcagg aggagtggga gtgcctgcag cctgatcaga ggaccttgta
      181 cagggatgtg atgttggaga actacagcca cctgatatca ctgggaagtt ccatttctaa
      241 gccagatgtg attacattac tagagcaaga gaaagagccc tggattgttg taagtaaaga
      301 aacaagcaga tggtatccag atttggagtc aaaatatgga cctgagaaaa tatctccaga
      361 aaatgatatt tttgaaataa atttacccaa acatgttata aagcaaataa gtaaaacact
      421 tggcctcgag gccttttatt ttagaaatga ctcagaatat agaagtagat ttgagggacg
      481 acagggacat caagaaggat atatcaacca gaagatcatc agctatgaag aaatgcctgc
      541 ttatactcat gcttctccta ttcataatac acataaacca tatgaatgta aggaatgtgg
      601 gaaatacttt agttgtggtt caaatcttat tcagcatcag agtattcata ctggagagaa
      661 accctataaa tgcaaagaat gtgggaaagc ctttcaactt cacatacaac ttactcgaca
      721 tcagaaattt catactggtg agaaaacttt tgaatgtaag gaatgtggaa aagcctttaa
      781 tcttcccacc cagcttaatc gccataagaa cattcacaca gttaagaaac tgtttgaatg
      841 taaggaatgt gggaagtctt ttaatcgtag ctcaaacctt actcagcatc aaagtattca
      901 tgctggtgta aaaccatatc aatgtaagga gtgtgggaaa gcctttaatc gtggttcaaa
      961 tcttattcag catcaaaaaa ttcattccaa tgagaaaccc tttgtatgta gggaatgtga
     1021 gatggccttt cgatatcatt accaactcat tgaacattgc cgaattcata ctggcgagaa
     1081 accctttgaa tgtaaagaat gcagaaaggc ctttactctt ctgacaaagc ttgttcgaca
     1141 tcagaagatt catatgggtg agaagccctt tgaatgcagg gaatgcggga aggcctttag
     1201 tctcctcaat cagcttaatc gccataagaa tattcacaca ggtgaaaaac catttgaatg
     1261 taaagaatgt gggaagtcct ttaatcgtag ttcaaacctt attcaacacc agagtattca
     1321 tgctgatgta aaaccatatg aatgtaagga gtgtgggaaa ggctttaatc gtggtgcaaa
     1381 tcttattcag catcaaaaaa ttcattccaa tgagaaaccc tttgtatgta gggaatgtga
     1441 gatggccttt cgatatcatt accaacttat tcaacattgc caaattcata ctggtgggaa
     1501 accctttgaa tgtaaagaat gtggaaaggc ctttagtctt ctgacacagc ttgctcgaca
     1561 taagaacatt catactggtg agaaaccatt tgaatgtaaa gactgtggga aggccttcaa
     1621 tcgtggctcg aaccttgttc aacatcagag tattcacact ggtgagaagc cctatgaatg
     1681 taaggagtgt gggaaggctt ttagacttca cctacaactt tctcaacatg agaaaactca
     1741 tacaggtgag aaaccctttg aatgtaagga atgtgggaaa ttctttcgtc gtggttcaaa
     1801 tcttaatcaa catcgaagta ttcataccgg aaagaaaccc tttgaatgta aggaatgtgg
     1861 gaaagccttt cgacttcata tgcaccttat tcgacatcag aaatttcata ctggtgagaa
     1921 gccctttgaa tgtaaggaat gtggcaaggc cttcagtctt cacacccagc ttaatcacca
     1981 taagaacatt cacacaggtg agaagccatt taaatgtaaa gaatgtggga agtcctttaa
     2041 tcgtgtctca aaccttgttc aacatcagag tattcatgct ggtgtaaaac catatgaatg
     2101 taaggagtgt gggaaaggct ttagtcgtgt ttcaaacctt attcagcatc agaaaactca
     2161 ttccagtgcg aaaccctttg tatgtaagga gtgtaggaag acctttagat atcattacca
     2221 gcttactgaa cattaccgaa ttcatactgg tgagaaaccc tttgaatgta aagaatgcgg
     2281 aaaggccttt ggtcttctga cacagcttgc tcaacatcag atcattcata ctggtgagaa
     2341 gccatttaaa tgtaaggagt gtgggaaggc ctttaatcgt ggctcaaacc ttgttcaacc
     2401 tcagagtatt catactggtg agaaacccta tgaatgtaag gagtgtggga aggcttttag
     2461 acttcaccta caactttctc tgcatcaaaa acttgtacag gtgagaaacc ctttgaatgt
     2521 aagaaatgtg ggacagcctt cagacatcag tagcaactta ctgaacatca gaaaattcat
     2581 acttgggtga aaacctttga atgtaaggaa tgtgggaagg cctttcaata tcattaccaa
     2641 tttcatggac attatagatt tcatattcgt gagaaccctt atgaatgtca aggatgtggg
     2701 aaatgcttta ccagtggtag aaaccttaga gtacatcaga gaattcatac tggtgagaaa
     2761 ccatatcaat gtgaagaatg tgggaaagcc tttagtcata gttcaaacct gttaaacatg
     2821 ttaaaattca tactgatgag aaaccctatg aatgtaagga atgtgaaaag gcctttagca
     2881 gtaattatga tcttactgta catctgagaa tccgtactgc tgagaaaccc tgtgagtgta
     2941 aagaatgtgg aaaacttttg gatttagctt agtctttact gcacatcaaa gaattcatac
     3001 tggtatgaac cgtatgaatg taaagaatgt ggaaagacct ttacttgtag ctcgagcctt
     3061 gttcaacatg ttaaaattca tactggtgag caaccctgtg aatgtaaagg atgtgggaag
     3121 acctttagac ttagttcagt cctttctgca catcacagaa ttcatactgg catgaaaccc
     3181 tatgaatgta aagaatgtga gcaaaccctt actgtgaatg atctgcttac gcaacatcag
     3241 aaaattcatt atagttagaa gttttatgaa tataaggagt gtagacaagc cttcactgtg
     3301 tatgaaaaat ttactcaaca ccagagaatt catattgatg agaaatcctg tgaacataaa
     3361 agaatgtgtg aagaactttc atcgtggcct gggatttgct caacatcaga gtattcatac
     3421 tgctgagaac tcctttgagt gtaaagaatg tgggatattt tatagccaca ctaaatgcct
     3481 tagagttcag agaagataat tttggtgaga aagttactga tgtgaggaat gtagagtagc
     3541 tgccatgttc acagtttact gcccgtgaaa tattttactg gatacaggcg taccttgctt
     3601 aattgtgcat tgcagttact gcattttata cacactgaag gtttgcagca accttgcagt
     3661 gaataagtct atcagcacca ttttccaaac agcatatgca catttcatgt ctttgtgtca
     3721 cactttgcta gttttcataa tatttcaaac tttttcattg ttaaatctgt tatggtgatc
     3781 tgtgaccagt gttttttgat tactagtgta attgttacta gtgtaattgt ttggggatac
     3841 cacaaatcct gcccataaaa gatggtgaac ctagttgata attgttgtgg gttttgaaag
     3901 aatagtaaaa tatatacaca tatccccccc acctagattc aaaattgtta acaatttgcc
     3961 acatttattt tttgtatatt tgttgtacca ttgagaataa gttttagacc attgagaata
     4021 agttttagat atcatgacac tttactcctt gttacatcag catgtgtgtt acccaaacat
     4081 aaagacaata tcatataacc atagtaccat aattaccctt aaggaaaata ttcataattc
     4141 tgtaatatca ttccatcttc agatttcttc cttggcctgc aaaccatctt ttacagctat
     4201 tcattttctc tttttttttt tttttttttg agatggagtc tcgctctgtc gcccagactg
     4261 gagtgcagtg gtgcgatctg ggctcactgc aagctctgcc tcctgggttc acgccattct
     4321 cccgcctcag cctcctgagt agctgggact agaggcaccc gccaccatgc ccagctaatt
     4381 ttttgtattt ttagtagaga cagggtttca ctctgttagc caggatggtc tcgatctcct
     4441 gacctcgtga tccacccgcc ttggcctccc aaagtgctgg gattacaggc atgagccagc
     4501 atgcctggcc tacagctatt cattttctaa ggagagtcca ttgcagattc tgcattgcat
     4561 ttggttatct ctctttagtg tattgtagca tggaaacccc atgaaagtat gctctcaaat
     4621 tatggtgggt atcagaatcc cctgtggaac ttagtaaacc tacagaagtg tagccctagt
     4681 ttataagcct gggcctctgt tttttattat ttctccaggt tttgtgtctg tgataccaac
     4741 cagagttaga gagccactgg tctagaacat ttctcatttt aaaaaaatga cattgaattt
     4801 tgagtagccc agaaatgttg ttggctatgt gtttagattt ctttctttat agtgtcattt
     4861 agccttgttc ttggttgtat tttctttaca agggaaagta agtccagagg ctttcttagg
     4921 tctagattaa acgttttggg gaagaatact ttgtaggtta tttctatgtc atattgtact
     4981 gtcagaaaac atttaagtac aggtccttgc attagtgaaa ctaaggatga tcatttgggt
     5041 aagctggtaa ccgccgtaag tccattgtaa agatttagtt tgtagtgggt aagtaatcta
     5101 tggagagacg ttgtcatctc tgaaaagtta tagtcacgtg tacttaagcc ctggattgaa
     5161 tacaaaatga aaattgaaat agactattga gaaatgaatg ccattaaagc gtcaacataa
     5221 ttcaacttgt gtgatatggc tgacactgta ctcagtacaa aactggcacc ctttggattg
     5281 tatagggagc caagattgtc cggaacctct tttttgttca gcatttatca ccagcaccta
     5341 taccatggct ggtacatgag ctgttgataa aaatttgaaa aaatattaac cctttaaatc
     5401 aagctgtaaa acatgatacc attaagccgg gagcagtggc ctcatgcctg taatcccagc
     5461 actttgggag gccaaggtgg gcagatcacc tgaggtcagg agtttgagac caacttggcc
     5521 aacatggcaa aactccatct ctcctaaaaa taaaaaaatt agctggacat ggtggtgcat
     5581 tcctgtaatc ccagctactt gggaggctga ggcaggagaa tcactcgaaa ttggaaggtg
     5641 gaggtggcag tgagccaaga tcgtgccact gcactccagc ctgggcgaca aagtgagact
     5701 tcatctcaaa aaaaccccaa aacaaaacat gataccgatg tggcatcatg aattagatta
     5761 aatttttttt aagattaaga ataatccttt gtgattttat tccattgtgt tgaaaaatct
     5821 ataaagtgat aatttatatt gatagctttc ttctttttat gaatataccc tggtcagatg
     5881 attattcttt caatagacta cttaattcta tcttttacca tttaattgca tctataatca
     5941 taagtaaagt tataattttc caagtatttt tcaggtattg atattgcaat gatgttatac
     6001 aacttataaa acaagattat ataaaacttg gctttcaaat cttatgttcc tattttttat
     6061 ttccagtttc atcttttttc tatccattct cttgaacttt cttctttgaa atcagcagag
     6121 tccctgggta ttaacctagc acaactcctt tctgggtcat tgcacatccc ggtagtatca
     6181 ttaagagttg tcagaaagat ccctggcagc ctttcggtga aactctatca tcatgcaatc
     6241 atggcagtac tatgttggaa gtcagagtcc ctttgcaaac ataataaaac actttaatat
     6301 atttgttaaa gttacaaacc aagtatgtac aaatttaaaa atcacggcca ggcacggtgg
     6361 ctcacgcctg taatccccaa cttaaaatgg tttgacttat aattttcagc tttataatag
     6421 tacaaaagtg atatgctgct atagtttgga tatttatccc ctccaaatct catattgaag
     6481 tttgatccca atgttggagg tggggcctaa tgggaggtgt gtgggtcatg ggagaagatc
     6541 cctcatgaat aaattaatgt cctctctgga ttggggggtg aattatcact ctgttagttc
     6601 ctatgagagc tggttgtaca aaagagcctg gcacctcctt cctcaccctc ttgcttcctc
     6661 tcttgccatg tgatgtctgc atacactgcc ccctttcatc tgccatgagt ggaagcagcc
     6721 tgaggccctt accagaagca gatgttgcac catgattctt gtaaatccta cagaacactg
     6781 agccaaataa acctctttct ttattaataa cccaacctca gacattcctt tatagcaaca
     6841 caaaactaag acatactcag tcagagtatg ctccttgact taaaatgggg ctatatctag
     6901 ataaacccat tgttaaattg aaaatattgt agaccataaa tgcacatatg gtgtatgatg
     6961 ttttcaattt atgatgggtt tatttggaca taactccccg taagttgaga agcacctgta
     7021 gtaattatta ttatttatgc tcaaattgac ataatgtggc cagtaggaat ccatttacat
     7081 ttttttttta ctacttattt ttttcttttg atgttttaaa ggaatattgt tttcaggccg
     7141 taagaggatg tttaagactg accctgtttg ttggttcatg tcccccatgc ctcttgtcct
     7201 gagtcatgga atcaactcat gatttaatac cctcttatct tagggagtcc tggttccttt
     7261 tagaggaaaa aagaattaga gaccaaaaaa tctggctgct gtgagtgcac atggcagtta
     7321 caggtatgga aaaaaagatg ctgcttttgt tagaattctt ttaatagttt cagagttgaa
     7381 aatgtcatcc taaggtcaga agttccctct gaattttctc aacttacatt tctatgatct
     7441 gctcttgttt gcatttggta ttttattgaa ttatgtttta tgtatggtga tagctgagaa
     7501 gtttatctcc ttttaaggcc tggctgaaat gatacattaa tctgcctccc atttttggag
     7561 atattgctct gatttaaatt tgtcatggtg tttctgagca gcgttgtaaa gaaacttgtt
     7621 ttagaatatt cagtcatgga tgttatcttg aatgttcata gactccccag aaaagaagaa
     7681 aaagtagaca caagatttct gtcatccttt tacagggtat tgtgatcatc cagcttgggg
     7741 tatgagggat aacggacctg tgtgtcttaa tttccagaat accattccat ttcaatgagt
     7801 cttctgcaca agttgtggtc tcagggattc actgtcttca tttgtaattg atcaaaatga
     7861 aaccatctcc aggattcctc agtgggtcag gatctgttat ttattaggcc cgcatatcca
     7921 ttctaccctg ctttcatgat tatagaacca gtaattttta ttgatagttg gctgtgacta
     7981 tctagaataa ggactgcagt tatttctcca aggtgttgtc atgtgacata acttatggca
     8041 agtaggatgt aagtgaatat tttggcaatt ctggaaacct cttaaaacaa actagcttaa
     8101 tatattaata tttgagaaat ctgggtgaag ggtaaccaga attatttact attcttccaa
     8161 gttctgtata agtctgagtg ctcattccat tctgatgcca gaatggtaaa attcatgatt
     8221 ggtttagagc aaggccacag tatcaggctt acatccatat tatatgacag agaaattaac
     8281 ttttattata ttttatccac tttaatttgg ggcagtttta ctattttact cacaaccaaa
     8341 tttaatctta aacgctacaa ctagattgtc acatgtaaaa agtaataacc atcattatat
     8401 cttttatgtt ctgtaattcc aaagcacgga tctgtagaga acagagtgtc tatcccatgc
     8461 atgttgtcat gtacttatcc cacaccctat tgaaatcaca gtacccataa gggagacatt
     8521 ttttttcttc aagaatatgt atttctgcca catctatgat tctccagaat gagatgacag
     8581 aaaatgctaa actattgtta aatgactata tgtagttcca cttctggatg gtagatgggg
     8641 gggctctgca aactcatttt ctaataaaac tggcaaaaaa aaatgta
//
LOCUS       NM_001005853             939 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 6 subfamily B member 2
            (OR6B2), mRNA.
ACCESSION   NM_001005853
VERSION     NM_001005853.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   McRae JF, Jaeger SR, Bava CM, Beresford MK, Hunter D, Jia Y, Chheang
            SL, Jin D, Peng M, Gamble JC, Atkinson KR, Axten LG, Paisley AG,
            Williams L, Tooman L, Pineau B, Rouse SA and Newcomb RD.
  TITLE     Identification of regions associated with variation in sensitivity
            to food-related odors in the human genome
  JOURNAL   Curr Biol 23 (16), 1596-1600 (2013)
   PUBMED   23910658
  REMARK    Erratum:[Curr Biol. 2013 Sep 9;23(17):1718]
REFERENCE   2  (bases 1 to 939)
  AUTHORS   Malnic B, Godfrey PA and Buck LB.
  TITLE     The human olfactory receptor gene family
  JOURNAL   Proc Natl Acad Sci U S A 101 (8), 2584-2589 (2004)
   PUBMED   14983052
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 May 4;101(18):7205]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000319423.5/ ENSP00000322435.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB065663.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     gene            1..939
                     /gene="OR6B2"
                     /gene_synonym="OR2-1; OR6B2P"
                     /note="olfactory receptor family 6 subfamily B member 2"
                     /db_xref="GeneID:389090"
                     /db_xref="HGNC:HGNC:15041"
     CDS             1..939
                     /gene="OR6B2"
                     /gene_synonym="OR2-1; OR6B2P"
                     /note="olfactory receptor, family 6, subfamily B, member 2
                     pseudogene; olfactory receptor OR2-1"
                     /codon_start=1
                     /product="olfactory receptor 6B2"
                     /protein_id="NP_001005853.1"
                     /db_xref="CCDS:CCDS46559.1"
                     /db_xref="GeneID:389090"
                     /db_xref="HGNC:HGNC:15041"
                     /translation="MSGENVTKVSTFILVGLPTAPGLQYLLFLLFLLTYLFVLVENLAI
                     ILIVWSSTSLHRPMYYFLSSMSFLEIWYVSDITPKMLEGFLLQQKRISFVGCMTQLYFF
                     SSLVCTECVLLASMAYDRYVAICHPLRYHVLVTPGLCLQLVGFSFVSGFTISMIKVCFI
                     SSVTFCGSNVLNHFFCDISPILKLACTDFSTAELVDFILAFIILVFPLLATILSYWHIT
                     LAVLRIPSATGCWRAFSTCASHLTVVTVFYTALLFMYVRPQAIDSQSSNKLISAVYTVV
                     TPIINPLIYCLRNKEFKDALKKALGLGQTSH"
     misc_feature    13..15
                     /gene="OR6B2"
                     /gene_synonym="OR2-1; OR6B2P"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6IFH4.2); glycosylation site"
     misc_feature    76..138
                     /gene="OR6B2"
                     /gene_synonym="OR2-1; OR6B2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IFH4.2);
                     transmembrane region"
     misc_feature    163..225
                     /gene="OR6B2"
                     /gene_synonym="OR2-1; OR6B2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IFH4.2);
                     transmembrane region"
     misc_feature    298..360
                     /gene="OR6B2"
                     /gene_synonym="OR2-1; OR6B2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IFH4.2);
                     transmembrane region"
     misc_feature    418..480
                     /gene="OR6B2"
                     /gene_synonym="OR2-1; OR6B2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IFH4.2);
                     transmembrane region"
     misc_feature    589..651
                     /gene="OR6B2"
                     /gene_synonym="OR2-1; OR6B2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IFH4.2);
                     transmembrane region"
     misc_feature    712..774
                     /gene="OR6B2"
                     /gene_synonym="OR2-1; OR6B2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IFH4.2);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR6B2"
                     /gene_synonym="OR2-1; OR6B2P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6IFH4.2);
                     transmembrane region"
ORIGIN
        1 atgagtgggg agaatgtcac caaggtcagc accttcatcc tggtgggcct ccccacggcc
       61 ccagggctgc agtacctgct cttcctcctc ttcctgctca cctacctctt tgtcctggtg
      121 gagaacctgg ccatcatcct catcgtctgg agcagcacct ccctccacag gcccatgtac
      181 tactttctga gctccatgtc tttcctggag atctggtacg tgtctgacat cacccccaag
      241 atgctggagg gcttcctcct ccagcagaaa cgcatctctt tcgtcgggtg catgacgcag
      301 ctctacttct tcagctccct ggtgtgcacc gagtgtgtgc ttctggcctc catggcctac
      361 gaccgctacg tggccatctg ccacccgctg cgctaccacg tccttgtgac cccggggctg
      421 tgcctccagc tggtgggctt ctcctttgtg agtggcttca ccatctccat gatcaaggtc
      481 tgttttatct ccagcgtcac gttctgtggc tccaacgtct tgaaccactt cttctgtgac
      541 atttccccca tcctcaagct ggcctgcacg gacttctcca ctgcagagct ggtggatttc
      601 atcctggcct tcatcatcct ggtgtttccg ctcctggcca ccatactgtc atattggcac
      661 atcaccctgg ctgtcctgcg catcccctcg gccaccggct gctggagagc cttctctacc
      721 tgcgcctctc acctcaccgt ggtcaccgtc ttctatacag ccttgctttt catgtatgtc
      781 cggccccaag ccattgattc ccagagctcc aacaagctca tctctgccgt gtacactgtt
      841 gtcacgccaa taattaaccc tttgatttac tgcctgagga acaaggaatt taaggacgcc
      901 ttgaaaaagg ccttgggctt gggtcaaact tcacactaa
//
LOCUS       NM_001005920            1934 bp    mRNA    linear   PRI 23-MAY-2023
DEFINITION  Homo sapiens jumonji domain containing 8 (JMJD8), transcript variant
            1, mRNA.
ACCESSION   NM_001005920
VERSION     NM_001005920.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1934)
  AUTHORS   Yi J, Wang L, Du J, Wang M, Shen H, Liu Z, Qin Y, Liu J, Hu G, Xiao
            R, Ding J, Chen X, Wang H, Huang H, Ouyang G and Liu W.
  TITLE     ER-localized JmjC domain-containing protein JMJD8 targets STING to
            promote immune evasion and tumor growth in breast cancer
  JOURNAL   Dev Cell 58 (9), 760-778 (2023)
   PUBMED   37054705
  REMARK    GeneRIF: ER-localized JmjC domain-containing protein JMJD8 targets
            STING to promote immune evasion and tumor growth in breast cancer.
REFERENCE   2  (bases 1 to 1934)
  AUTHORS   Liang X, Zhang H, Wang Z, Zhang X, Dai Z, Zhang J, Luo P, Zhang L,
            Hu J, Liu Z, Bi C and Cheng Q.
  TITLE     JMJD8 Is an M2 Macrophage Biomarker, and It Associates With DNA
            Damage Repair to Facilitate Stemness Maintenance, Chemoresistance,
            and Immunosuppression in Pan-Cancer
  JOURNAL   Front Immunol 13, 875786 (2022)
   PUBMED   35898493
  REMARK    GeneRIF: JMJD8 Is an M2 Macrophage Biomarker, and It Associates With
            DNA Damage Repair to Facilitate Stemness Maintenance,
            Chemoresistance, and Immunosuppression in Pan-Cancer. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 1934)
  AUTHORS   Su Y, Wang X, Guo Z and Wang J.
  TITLE     Aberrant JmjC domain-containing protein 8 (JMJD8) expression
            promotes activation of AKT and tumor epithelial-mesenchymal
            transition
  JOURNAL   Oncogene 39 (41), 6451-6467 (2020)
   PUBMED   32879443
  REMARK    GeneRIF: Aberrant JmjC domain-containing protein 8 (JMJD8)
            expression promotes activation of AKT and tumor
            epithelial-mesenchymal transition. Erratum:[Oncogene. 2021
            Apr;40(17):3180-3186. PMID: 33772145]
REFERENCE   4  (bases 1 to 1934)
  AUTHORS   Su Y and Wang J.
  TITLE     JmjC domain-containing protein 8 (JMJD8) represses Ku70/Ku80
            expression via attenuating AKT/NF-kappaB/COX-2 signaling
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1866 (12), 118541 (2019)
   PUBMED   31473257
  REMARK    GeneRIF: The research provided data to establish the role of JMJD8
            in regulating tumor cell proliferation and their sensitivity to
            ionizing irradiation or chemo-therapy drug, and the
            AKT/NF-kappaB/COX-2 signaling mediated expression of Ku70/Ku80 was
            involved.
REFERENCE   5  (bases 1 to 1934)
  AUTHORS   Yeo KS, Tan MC, Lim YY and Ea CK.
  TITLE     JMJD8 is a novel endoplasmic reticulum protein with a JmjC domain
  JOURNAL   Sci Rep 7 (1), 15407 (2017)
   PUBMED   29133832
  REMARK    GeneRIF: Study demonstrated that JMJD8 is the first JmjC
            domain-containing protein found in the lumen of the endoplasmic
            reticulum that may function in protein complex assembly and protein
            folding. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1934)
  AUTHORS   Yeo KS, Tan MC, Wong WY, Loh SW, Lam YL, Tan CL, Lim YY and Ea CK.
  TITLE     JMJD8 is a positive regulator of TNF-induced NF-kappaB signaling
  JOURNAL   Sci Rep 6, 34125 (2016)
   PUBMED   27671354
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1934)
  AUTHORS   Boeckel JN, Derlet A, Glaser SF, Luczak A, Lucas T, Heumuller AW,
            Kruger M, Zehendner CM, Kaluza D, Doddaballapur A, Ohtani K, Treguer
            K and Dimmeler S.
  TITLE     JMJD8 Regulates Angiogenic Sprouting and Cellular Metabolism by
            Interacting With Pyruvate Kinase M2 in Endothelial Cells
  JOURNAL   Arterioscler Thromb Vasc Biol 36 (7), 1425-1433 (2016)
   PUBMED   27199445
  REMARK    GeneRIF: Jmjd8 is upregulated during endothelial differentiation and
            regulates endothelial sprouting and metabolism by interacting with
            pyruvate kinase M2.
REFERENCE   8  (bases 1 to 1934)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   9  (bases 1 to 1934)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Behal A, Touchman JW, Bouffard G,
            Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and splice
            variants
  JOURNAL   Mol Vis 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
REFERENCE   10  (bases 1 to 1934)
  AUTHORS   Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C,
            Kearney L, Buckle VJ, Doggett NA, Flint J and Higgs DR.
  TITLE     Sequence, structure and pathology of the fully annotated terminal 2
            Mb of the short arm of human chromosome 16
  JOURNAL   Hum Mol Genet 10 (4), 339-352 (2001)
   PUBMED   11157797
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1033979.1, AF370420.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000609261.6/ ENSP00000477481.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Z92544.1.
            On Nov 23, 2018 this sequence version replaced NM_001005920.3.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1934
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1934
                     /gene="JMJD8"
                     /gene_synonym="C16orf20; PP14397"
                     /note="jumonji domain containing 8"
                     /db_xref="GeneID:339123"
                     /db_xref="HGNC:HGNC:14148"
     CDS             16..810
                     /gene="JMJD8"
                     /gene_synonym="C16orf20; PP14397"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; jmjC domain-containing protein 8; jumonji
                     domain-containing protein 8"
                     /codon_start=1
                     /product="jmjC domain-containing protein 8 isoform 1
                     precursor"
                     /protein_id="NP_001005920.3"
                     /db_xref="CCDS:CCDS45369.2"
                     /db_xref="GeneID:339123"
                     /db_xref="HGNC:HGNC:14148"
                     /translation="MAPASRLLALWALAAVALPGSGAEGDGGWRPGGPGAVAEEERCTV
                     ERRADLTYAEFVQQYAFVRPVILQGLTDNSRFRALCSRDRLLASFGDRVVRLSTANTYS
                     YHKVDLPFQEYVEQLLHPQDPTSLGNDTLYFFGDNNFTEWASLFRHYSPPPFGLLGTAP
                     AYSFGIAGAGSGVPFHWHGPGYSEVIYGRKRWFLYPPEKTPEFHPNKTTLAWLRDTYPA
                     LPPSARPLECTIRAGEVLYFPDRWWHATLNLDTSVFISTFLG"
     sig_peptide     16..84
                     /gene="JMJD8"
                     /gene_synonym="C16orf20; PP14397"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    403..405
                     /gene="JMJD8"
                     /gene_synonym="C16orf20; PP14397"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (Q96S16.2); glycosylation site"
     misc_feature    433..435
                     /gene="JMJD8"
                     /gene_synonym="C16orf20; PP14397"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (Q96S16.2); glycosylation site"
     misc_feature    640..642
                     /gene="JMJD8"
                     /gene_synonym="C16orf20; PP14397"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (Q96S16.2); glycosylation site"
     regulatory      1916..1921
                     /regulatory_class="polyA_signal_sequence"
                     /gene="JMJD8"
                     /gene_synonym="C16orf20; PP14397"
                     /note="hexamer: AGTAAA"
     polyA_site      1934
                     /gene="JMJD8"
                     /gene_synonym="C16orf20; PP14397"
                     /note="major polyA site"
ORIGIN
        1 gagggcggca ggctcatggc gccggcgtcg cggttgctcg cgctctgggc gctggcggct
       61 gtggctctac ccggctccgg ggcggagggc gacggcgggt ggcgcccggg cgggccgggg
      121 gccgtggcgg aggaggagcg ctgcacggtg gagcgtcggg ccgacctcac ctacgcggag
      181 ttcgtgcagc agtacgcctt cgtcaggccc gtcatcctgc agggactcac ggacaactcg
      241 aggttccggg ccctgtgctc ccgcgacagg ttgctggctt cgtttgggga cagagtggtc
      301 cggctgagca ccgccaacac ctactcctac cacaaagtgg acttgccctt ccaggagtat
      361 gtggagcagc tgctgcaccc ccaggacccc acctccctgg gcaatgacac cctgtacttc
      421 ttcggggaca acaacttcac cgagtgggcc tctctctttc ggcactactc cccaccccca
      481 tttggcctgc tgggaaccgc tccagcttac agctttggaa tcgcaggagc tggctcgggg
      541 gtgcccttcc actggcatgg acccgggtac tcagaagtga tctacggtcg taagcgctgg
      601 ttcctttacc cacctgagaa gacgccagag ttccacccca acaagaccac gctggcctgg
      661 ctccgggaca catacccagc cctgccaccg tctgcacggc ccctggagtg taccatccgg
      721 gctggtgagg tgctgtactt ccccgaccgc tggtggcatg ctacgctcaa ccttgacacc
      781 agcgtcttca tctccacctt cctcggctag ccaaaacagc tggcaggact gccggtcaca
      841 caccagcacg tcccacctcg tgctcacgga ttttattaca cagatagtgg cggcaatggc
      901 ctcagcccag cccaccctca cctgcttttc cagcccacaa agggggacga tcacggccca
      961 gcaaaagcga tgctgagagg ggaaacagtc cagagtccaa cagcagaact tgggggaagc
     1021 ggtcggggtg gccaggaaca taaactatgt ataggggccg ggggcttctg cccagggctc
     1081 ccctggacca ggacgccagg tagggcaggg aacctcagta gtcctccacc cagccattct
     1141 cagagatgaa tgcgtcaata acctccttca tagccaagtt ggggatgagc tgttcctggg
     1201 tcagggggct ccgggtcacg gggtcaaaat gacccacacg ctgcagtgac aagaagggca
     1261 gagggcagtc atggggccca ggaccatgcc actggccctg ctcccccagc cgcaggcctc
     1321 acctgcaggt gctcctcgat gtccttgcgg tcgtaggtga tgccactggg cgtgatgcac
     1381 ggctcccgca tcagctcaaa gctgatcttg ccacacaggt agtcggggat gtctcgcttc
     1441 tgtggcacag gggcacacgg tcagaggctg aaaaggggca ctgcacgagc acctgccagc
     1501 catcggcagc aagcgacaca cactcacctt cctcttctca tccacctgag aaaaaagctc
     1561 gtccatgtcc gccatgtact tgtcctgtga agagttgagt gctgtgcttg ggggagacac
     1621 cccacctccc tcctccatgg ggcacagacc caacacaagg cggggatgct cccacgccac
     1681 gtgcacacac acagacccac atgtgggtgg ggggcaccct cacgtgcttg gcctcaatgc
     1741 aggcctgctg ggcccggacg tggctgtcgt cctcatcacc ctcgtggttt cgctggcact
     1801 cttccagctc cctgggggtt gaccaggagc cggtcagaga tggacctggc cagatgtctg
     1861 accacacccc aatctcagag ctaacatcca cacttcccca catttcctgc ttgccagtaa
     1921 agccttcgat aaac
//
LOCUS       NM_001005922             942 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.
ACCESSION   NM_001005922
VERSION     NM_001005922.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 942)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 942)
  AUTHORS   Soma,T., Ishimatsu-Tsuji,Y., Tajima,M. and Kishimoto,J.
  TITLE     Runx1 transcription factor is involved in the regulation of KAP5
            gene expression in human hair follicles
  JOURNAL   J Dermatol Sci 41 (3), 221-224 (2006)
   PUBMED   16442267
  REMARK    GeneRIF: KAP5 gene expression in human hair follicles is regulated
            by Runx1
REFERENCE   3  (bases 1 to 942)
  AUTHORS   Yahagi S, Shibuya K, Obayashi I, Masaki H, Kurata Y, Kudoh J and
            Shimizu N.
  TITLE     Identification of two novel clusters of ultrahigh-sulfur
            keratin-associated protein genes on human chromosome 11
  JOURNAL   Biochem Biophys Res Commun 318 (3), 655-664 (2004)
   PUBMED   15144888
REFERENCE   4  (bases 1 to 942)
  AUTHORS   Sun XK, Ma LL, Xie YQ and Zhu XJ.
  TITLE     Keratin 1 and keratin 10 mutations causing epidermolytic
            hyperkeratosis in Chinese patients
  JOURNAL   J Dermatol Sci 29 (3), 195-200 (2002)
   PUBMED   12234709
  REMARK    GeneRIF: A novel mutation designated as E477K of K1 was identified
            in epidermolytic hyperkeratosis.
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AB126070.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000382171.2/ ENSP00000371606.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB126070.1.
FEATURES             Location/Qualifiers
     source          1..942
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..942
                     /gene="KRTAP5-1"
                     /gene_synonym="KRN1L; KRTAP5.1"
                     /note="keratin associated protein 5-1"
                     /db_xref="GeneID:387264"
                     /db_xref="HGNC:HGNC:23596"
                     /db_xref="MIM:148022"
     CDS             35..871
                     /gene="KRTAP5-1"
                     /gene_synonym="KRN1L; KRTAP5.1"
                     /note="keratin-associated protein 5.1; ultrahigh sulfur
                     keratin-associated protein 5.1"
                     /codon_start=1
                     /product="keratin-associated protein 5-1"
                     /protein_id="NP_001005922.1"
                     /db_xref="CCDS:CCDS31330.1"
                     /db_xref="GeneID:387264"
                     /db_xref="HGNC:HGNC:23596"
                     /db_xref="MIM:148022"
                     /translation="MGCCGCSGGCGSSCGGCGSGCGGCGSGCGGCGSGCGGSGSSCCVP
                     VCCCKPVCCRVPTCSCSSCGKGGCGSSGGSKGGCGSCGGCKGGCGSCGGSKGGCGSCGG
                     SKGGCGSCGGSKGGCGSGCGGCGSSCCVPVCCCKPMCCCVPACSCSSCGKGGCGSCGCS
                     KGACGSCGGSKGGCGSCGGCKGGCGSCGGSKGGCGSGCGGCGSGCGVPVCCCSCSSCGS
                     CAGSKGGCGSSCSQCSCCKPCCCSSGCGSSCCQSSCCKPCCSQSSCCVPVCCQCKI"
     misc_feature    158..847
                     /gene="KRTAP5-1"
                     /gene_synonym="KRN1L; KRTAP5.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6L8H4.1);
                     Region: 8 X 4 AA repeats of C-C-X-P"
ORIGIN
        1 cctctacctg ctccaccctc aatccaccag aaccatgggc tgttgcggct gctccggagg
       61 ctgtggctcc agctgtgggg gctgtggctc cggctgtggg ggctgtggct ccggctgtgg
      121 gggctgtggc tctggctgtg gaggttctgg ctccagctgc tgtgtgcccg tctgctgctg
      181 caagcccgtg tgctgccgtg tgccaacctg ttcctgctcc agctgtggca aagggggctg
      241 tggctcttct gggggctcca aggggggctg tggctcctgt ggaggctgca aggggggctg
      301 tggctcttgt gggggatcca aggggggttg tggctcctgt gggggctcca aggggggctg
      361 tggctcttgt gggggatcca agggtggctg tggttccggc tgtgggggat gtggctccag
      421 ctgctgtgtg cctgtctgct gctgcaagcc catgtgctgc tgtgtgccag cttgttcctg
      481 ctccagctgt ggcaaagggg gctgtggctc ctgtgggtgc tccaaggggg cctgtggttc
      541 ttgtgggggc tccaaggggg gctgtggctc ctgtggaggc tgcaaggggg gctgcggttc
      601 ttgtggggga tccaaggggg gttgtggctc cggctgtggg ggctgtggct ccggctgcgg
      661 tgtgcccgtg tgttgctgtt cctgttccag ttgtggctct tgcgcggggt ctaagggagg
      721 ctgcgggtca tcctgctccc agtgcagttg ctgtaagccc tgctgctgtt cctcaggctg
      781 tgggtcatcc tgttgccaat ccagctgctg caagccctgc tgctcccagt ccagttgctg
      841 tgtccccgtg tgctgccagt gcaagatctg atttctggct ttgcaggact cttaccatgg
      901 ccaggcattc ctgcccagcc tttacctcct tttcctggca cc
//
LOCUS       NM_001006                869 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S3A (RPS3A), transcript variant 1,
            mRNA.
ACCESSION   NM_001006
VERSION     NM_001006.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 869)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   2  (bases 1 to 869)
  AUTHORS   Fasci D, van Ingen H, Scheltema RA and Heck AJR.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   3  (bases 1 to 869)
  AUTHORS   Li YH, Wang J, Liu Y, Qiu L, Li JZ, Hu HG, Hu ZL, Zhang W, Lu B and
            Zhang JP.
  TITLE     Esculentoside A specifically binds to ribosomal protein S3a and
            impairs LPS-induced signaling in macrophages
  JOURNAL   Int Immunopharmacol 54, 254-260 (2018)
   PUBMED   29169044
  REMARK    GeneRIF: RPS3a as an essential component for LPS-mediated
            pro-inflammatory signaling
REFERENCE   4  (bases 1 to 869)
  AUTHORS   Gopanenko AV, Malygin AA, Tupikin AE, Laktionov PP, Kabilov MR and
            Karpova GG.
  TITLE     Human ribosomal protein eS1 is engaged in cellular events related to
            processing and functioning of U11 snRNA
  JOURNAL   Nucleic Acids Res 45 (15), 9121-9137 (2017)
   PUBMED   28666385
  REMARK    GeneRIF: Ribosomal protein eS1 is engaged in cellular events related
            to processing and functioning of U11 snRNA.
REFERENCE   5  (bases 1 to 869)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 869)
  AUTHORS   Kho CJ, Wang Y and Zarbl H.
  TITLE     Effect of decreased fte-1 gene expression on protein synthesis, cell
            growth, and transformation
  JOURNAL   Cell Growth Differ 7 (9), 1157-1166 (1996)
   PUBMED   8877097
REFERENCE   7  (bases 1 to 869)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   8  (bases 1 to 869)
  AUTHORS   Nolte D, Taimor G, Kalff-Suske M and Seifart KH.
  TITLE     The human S3a ribosomal protein: sequence, location and cell-free
            transcription of the functional gene
  JOURNAL   Gene 169 (2), 179-185 (1996)
   PUBMED   8647443
REFERENCE   9  (bases 1 to 869)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   10  (bases 1 to 869)
  AUTHORS   Metspalu A, Rebane A, Hoth S, Pooga M, Stahl J and Kruppa J.
  TITLE     Human ribosomal protein S3a: cloning of the cDNA and primary
            structure of the protein
  JOURNAL   Gene 119 (2), 313-316 (1992)
   PUBMED   1398113
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.459102.1,
            SRR1163655.638439.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000274065.9/ ENSP00000346050.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BC001708.1 and CA441711.1.
            On Nov 22, 2018 this sequence version replaced NM_001006.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S3AE family of ribosomal proteins. It is located in the
            cytoplasm. Disruption of the gene encoding rat ribosomal protein
            S3a, also named v-fos transformation effector protein, in
            v-fos-transformed rat cells results in reversion of the transformed
            phenotype. This gene is co-transcribed with the U73A and U73B small
            nucleolar RNA genes, which are located in its fourth and third
            introns, respectively. As is typical for genes encoding ribosomal
            proteins, there are multiple processed pseudogenes of this gene
            dispersed through the genome. Alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, May
            2012].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..869
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.3"
     gene            1..869
                     /gene="RPS3A"
                     /gene_synonym="eS1; FTE1; MFTL; S3A"
                     /note="ribosomal protein S3A"
                     /db_xref="GeneID:6189"
                     /db_xref="HGNC:HGNC:10421"
                     /db_xref="MIM:180478"
     CDS             26..820
                     /gene="RPS3A"
                     /gene_synonym="eS1; FTE1; MFTL; S3A"
                     /EC_number="3.6.5.3"
                     /note="isoform 1 is encoded by transcript variant 1; 40S
                     ribosomal protein S3a; v-fos transformation effector
                     protein 1; fte-1; small ribosomal subunit protein eS1"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS1 isoform 1"
                     /protein_id="NP_000997.1"
                     /db_xref="CCDS:CCDS3775.1"
                     /db_xref="GeneID:6189"
                     /db_xref="HGNC:HGNC:10421"
                     /db_xref="MIM:180478"
                     /translation="MAVGKNKRLTKGGKKGAKKKVVDPFSKKDWYDVKAPAMFNIRNIG
                     KTLVTRTQGTKIASDGLKGRVFEVSLADLQNDEVAFRKFKLITEDVQGKNCLTNFHGMD
                     LTRDKMCSMVKKWQTMIEAHVDVKTTDGYLLRLFCVGFTKKRNNQIRKTSYAQHQQVRQ
                     IRKKMMEIMTREVQTNDLKEVVNKLIPDSIGKDIEKACQSIYPLHDVFVRKVKMLKKPK
                     FELGKLMELHGEGSSSGKATGDETGAKVERADGYEPPVQESV"
     misc_feature    125..127
                     /gene="RPS3A"
                     /gene_synonym="eS1; FTE1; MFTL; S3A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P61247.2); acetylation site"
     misc_feature    191..193
                     /gene="RPS3A"
                     /gene_synonym="eS1; FTE1; MFTL; S3A"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P97351; propagated from
                     UniProtKB/Swiss-Prot (P61247.2); acetylation site"
     misc_feature    719..817
                     /gene="RPS3A"
                     /gene_synonym="eS1; FTE1; MFTL; S3A"
                     /note="propagated from UniProtKB/Swiss-Prot (P61247.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    731..733
                     /gene="RPS3A"
                     /gene_synonym="eS1; FTE1; MFTL; S3A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P61247.2); phosphorylation site"
     misc_feature    734..736
                     /gene="RPS3A"
                     /gene_synonym="eS1; FTE1; MFTL; S3A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97351; propagated from
                     UniProtKB/Swiss-Prot (P61247.2); phosphorylation site"
     misc_feature    770..772
                     /gene="RPS3A"
                     /gene_synonym="eS1; FTE1; MFTL; S3A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P61247.2); acetylation site"
     misc_feature    791..793
                     /gene="RPS3A"
                     /gene_synonym="eS1; FTE1; MFTL; S3A"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455; propagated from
                     UniProtKB/Swiss-Prot (P61247.2); phosphorylation site"
     misc_feature    812..814
                     /gene="RPS3A"
                     /gene_synonym="eS1; FTE1; MFTL; S3A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P61247.2);
                     phosphorylation site"
     regulatory      844..849
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS3A"
                     /gene_synonym="eS1; FTE1; MFTL; S3A"
                     /note="hexamer: AATAAA"
     polyA_site      869
                     /gene="RPS3A"
                     /gene_synonym="eS1; FTE1; MFTL; S3A"
                     /note="major polyA site"
ORIGIN
        1 cccttttggc tctctgacca gcaccatggc ggttggcaag aacaagcgcc ttacgaaagg
       61 cggcaaaaag ggagccaaga agaaagtggt tgatccattt tctaagaaag attggtatga
      121 tgtgaaagca cctgctatgt tcaatataag aaatattgga aagacgctcg tcaccaggac
      181 ccaaggaacc aaaattgcat ctgatggtct caagggtcgt gtgtttgaag tgagtcttgc
      241 tgatttgcag aatgatgaag ttgcatttag aaaattcaag ctgattactg aagatgttca
      301 gggtaaaaac tgcctgacta acttccatgg catggatctt acccgtgaca aaatgtgttc
      361 catggtcaaa aaatggcaga caatgattga agctcacgtt gatgtcaaga ctaccgatgg
      421 ttacttgctt cgtctgttct gtgttggttt tactaaaaaa cgcaacaatc agatacggaa
      481 gacctcttat gctcagcacc aacaggtccg ccaaatccgg aagaagatga tggaaatcat
      541 gacccgagag gtgcagacaa atgacttgaa agaagtggtc aataaattga ttccagacag
      601 cattggaaaa gacatagaaa aggcttgcca atctatttat cctctccatg atgtcttcgt
      661 tagaaaagta aaaatgctga agaagcccaa gtttgaattg ggaaagctca tggagcttca
      721 tggtgaaggc agtagttctg gaaaagccac tggggacgag acaggtgcta aagttgaacg
      781 agctgatgga tatgaaccac cagtccaaga atctgtttaa agttcagact tcaaatagtg
      841 gcaaataaaa agtgctattt gtgatggtt
//
LOCUS       NM_001006117            1946 bp    mRNA    linear   PRI 21-MAR-2023
DEFINITION  Homo sapiens RNA binding motif protein Y-linked family 1 member J
            (RBMY1J), mRNA.
ACCESSION   NM_001006117
VERSION     NM_001006117.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1946)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1946)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1946)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam S,
            MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1946)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE,
            Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker SA,
            Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G,
            Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   5  (bases 1 to 1946)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human genetic
            disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   6  (bases 1 to 1946)
  AUTHORS   Tsuei DJ, Hsu HC, Lee PH, Jeng YM, Pu YS, Chen CN, Lee YC, Chou WC,
            Chang CJ, Ni YH and Chang MH.
  TITLE     RBMY, a male germ cell-specific RNA-binding protein, activated in
            human liver cancers and transforms rodent fibroblasts
  JOURNAL   Oncogene 23 (34), 5815-5822 (2004)
   PUBMED   15184870
REFERENCE   7  (bases 1 to 1946)
  AUTHORS   Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
            Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A,
            Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R,
            Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R,
            McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S,
            Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP,
            Waterston RH, Wilson RK, Rozen S and Page DC.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
REFERENCE   8  (bases 1 to 1946)
  AUTHORS   Chai NN, Zhou H, Hernandez J, Najmabadi H, Bhasin S and Yen PH.
  TITLE     Structure and organization of the RBMY genes on the human Y
            chromosome: transposition and amplification of an ancestral
            autosomal hnRNPG gene
  JOURNAL   Genomics 49 (2), 283-289 (1998)
   PUBMED   9598316
REFERENCE   9  (bases 1 to 1946)
  AUTHORS   Prosser J, Inglis JD, Condie A, Ma K, Kerr S, Thakrar R, Taylor K,
            Cameron JM and Cooke HJ.
  TITLE     Degeneracy in human multicopy RBM (YRRM), a candidate
            spermatogenesis gene
  JOURNAL   Mamm Genome 7 (11), 835-842 (1996)
   PUBMED   8875892
REFERENCE   10  (bases 1 to 1946)
  AUTHORS   Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ, Speed
            RM, Thomson EJ, Jobling M, Taylor K et al.
  TITLE     A Y chromosome gene family with RNA-binding protein homology:
            candidates for the azoospermia factor AZF controlling human
            spermatogenesis
  JOURNAL   Cell 75 (7), 1287-1295 (1993)
   PUBMED   8269511
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000250831.6/ ENSP00000250831.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007320.3.
            On Jul 21, 2021 this sequence version replaced NM_001006117.3.
            Summary: This gene encodes a protein containing an RNA-binding
            motif in the N-terminus and four SRGY (serine, arginine, glycine,
            tyrosine) boxes in the C-terminus. This protein likely functions as
            a splicing factor during spermatogenesis. Multiple closely related
            paralogs of this gene are found in a gene cluster in the AZFb
            azoospermia factor region of chromosome Y. Most of these related
            copies are thought to be pseudogenes, though several likely encode
            functional proteins. [provided by RefSeq, Mar 2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1946
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.223"
     gene            1..1946
                     /gene="RBMY1J"
                     /note="RNA binding motif protein Y-linked family 1 member
                     J"
                     /db_xref="GeneID:378951"
                     /db_xref="HGNC:HGNC:23917"
     misc_feature    127..129
                     /gene="RBMY1J"
                     /note="upstream in-frame stop codon"
     CDS             178..1668
                     /gene="RBMY1J"
                     /note="Y chromosome RNA recognition motif 2"
                     /codon_start=1
                     /product="RNA-binding motif protein, Y chromosome, family 1
                     member F/J"
                     /protein_id="NP_001006117.2"
                     /db_xref="CCDS:CCDS35484.1"
                     /db_xref="GeneID:378951"
                     /db_xref="HGNC:HGNC:23917"
                     /translation="MVEADHPGKLFIGGLNRETNEKMLKAVFGKHGPISEVLLIKDRTS
                     KSRGFAFITFENPADAKNAAKDMNGTSLHGKAIKVEQAKKPSFQSGGRRRPPASSRNRS
                     PSGSLRSARGSSGGTRGWLPSHEGHLDDGGYTPDLKMSYSRGLIPVKRGPSSRSGGPPP
                     KKSAPSAVARSNSWMGSQGPMSQRRENYGVPPRRATISSWRNDRMSTRHDGYATNDGNH
                     PSCQETRDYAPPSRGYAYRDNGHSNRDEHSSRGYRNHRSSRETRDYAPPSRGHAYRDYG
                     HSRRDESYSRGYRNHRSSRETREYAPPSRGHGYRDYGHSRRHESYSRGYRNHPSSRETR
                     DYAPPHRDYAYRDYGHSSWDEHSSRGYSYHDGYGEALGRDHSEHLSGSSYRDALQRYGT
                     SHGAPPARGPRMSYGGSTCHAYSNTRDRYGRSWESYSSCGDFHYCDREHVCRKDQRNPP
                     SLGRVLPDPREAYGSSSYVASIVDGGESRSEKGDSSRY"
     misc_feature    418..1212
                     /gene="RBMY1J"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15415.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1531..1665
                     /gene="RBMY1J"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15415.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 atgattggcc gctggaggta ggcgggattt ccgggcacgg cttccggcgt ccttccctct
       61 cagggtagct ccagctgtcc ctcccgcagt tggccctgtg gtgttccgaa gccggttacg
      121 tacgcctgag ggccaggcga acctcaggct ctttgtccta ctaaaaagcg cagcacaatg
      181 gtagaagcag atcatcctgg caagcttttc attggtggcc tcaatagaga aaccaatgag
      241 aagatgctta aagcagtatt tgggaaacat ggtcccatat cagaagttct tttgataaag
      301 gatcgaacca gcaaatccag aggctttgca tttattactt ttgagaaccc tgcagatgct
      361 aagaatgctg cgaaagatat gaatggaacg tctttgcatg gaaaagcaat aaaagtagaa
      421 caagccaaga aaccatcttt tcaaagtggt ggtaggcgga gaccaccagc ttcttcgaga
      481 aacagaagcc cttcaggaag tctgagatct gcaagaggaa gcagtggagg aacaagaggg
      541 tggcttccct cacatgaagg gcacctggat gatggtggat acactcctga tctcaagatg
      601 agttattcta ggggactcat tccagttaaa agaggtccat cttcaagaag tggaggtcct
      661 cctccgaaaa aatctgctcc ttctgctgtg gcaagaagca atagttggat gggaagccaa
      721 ggtcccatgt cacaaagaag agagaattat ggagttcctc cacgcagagc gacaatatct
      781 tcctggagaa atgatcgcat gtcaacaaga catgatggtt atgcaactaa cgatggaaat
      841 catccaagtt gccaagaaac gagggattat gctccaccat ctagaggcta tgcataccgt
      901 gataatggtc attctaatcg ggatgaacat tcctctagag gatatagaaa tcatcgaagt
      961 tcccgagaaa ctagggatta tgctccacca tctagaggcc atgcataccg tgattatggt
     1021 cattctcgtc gggatgaaag ttattctaga ggatacagaa atcatcgaag ttcccgagaa
     1081 actagggagt atgctccacc atctagaggc catggatacc gtgattatgg tcattctcgt
     1141 cgacatgaaa gttattctag aggatataga aatcatccaa gttcccgaga aaccagggat
     1201 tatgctccac cacatagaga ctatgcatac cgtgattatg gtcattctag ttgggatgaa
     1261 cattcctcta gaggatatag ttatcatgat ggctacggtg aggcccttgg tagagatcat
     1321 tctgaacatc taagtggaag ttcttataga gatgcacttc agagatacgg gacctctcat
     1381 ggtgcaccac ctgcaagagg gcctcggatg tcttatggtg gaagcacctg ccacgcatat
     1441 agtaatacac gagatagata tggcagaagt tgggagagtt actcgagctg tggtgatttt
     1501 cattattgtg atcgtgagca tgtttgcaga aaagaccaaa ggaatccgcc ttctctgggt
     1561 agggtgctcc ctgatcctcg tgaagcatat ggtagctcaa gttatgtggc atctatagta
     1621 gatggtgggg agagtcgatc tgaaaaagga gactcgagca gatattaaag caagcattga
     1681 aaataatagt tattgcatac caatccttgt ttgcaaatca aaaattgaaa tgttatttct
     1741 gcattgttac ctgcatatta ctgaaagaaa catgttggtt ttgtggagag aggtagatac
     1801 taacttcctc catgaatttt ttgaggtatt caaaggaaaa ggaattgttt tcaaagtaat
     1861 ttcatacttg ttgatgctat ttgaaaagtg tttagatgta atatctacct taaaattttc
     1921 acaataaaat tttacatgta ctgcaa
//
LOCUS       NM_001006118            1882 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens RNA binding motif protein Y-linked family 1 member E
            (RBMY1E), mRNA.
ACCESSION   NM_001006118
VERSION     NM_001006118.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1882)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1882)
  AUTHORS   Tsuei DJ, Hsu HC, Lee PH, Jeng YM, Pu YS, Chen CN, Lee YC, Chou WC,
            Chang CJ, Ni YH and Chang MH.
  TITLE     RBMY, a male germ cell-specific RNA-binding protein, activated in
            human liver cancers and transforms rodent fibroblasts
  JOURNAL   Oncogene 23 (34), 5815-5822 (2004)
   PUBMED   15184870
REFERENCE   3  (bases 1 to 1882)
  AUTHORS   Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
            Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A,
            Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R,
            Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R,
            McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S,
            Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP,
            Waterston RH, Wilson RK, Rozen S and Page DC.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
REFERENCE   4  (bases 1 to 1882)
  AUTHORS   Chai NN, Zhou H, Hernandez J, Najmabadi H, Bhasin S and Yen PH.
  TITLE     Structure and organization of the RBMY genes on the human Y
            chromosome: transposition and amplification of an ancestral
            autosomal hnRNPG gene
  JOURNAL   Genomics 49 (2), 283-289 (1998)
   PUBMED   9598316
REFERENCE   5  (bases 1 to 1882)
  AUTHORS   Prosser J, Inglis JD, Condie A, Ma K, Kerr S, Thakrar R, Taylor K,
            Cameron JM and Cooke HJ.
  TITLE     Degeneracy in human multicopy RBM (YRRM), a candidate
            spermatogenesis gene
  JOURNAL   Mamm Genome 7 (11), 835-842 (1996)
   PUBMED   8875892
REFERENCE   6  (bases 1 to 1882)
  AUTHORS   Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ, Speed
            RM, Thomson EJ, Jobling M, Taylor K et al.
  TITLE     A Y chromosome gene family with RNA-binding protein homology:
            candidates for the azoospermia factor AZF controlling human
            spermatogenesis
  JOURNAL   Cell 75 (7), 1287-1295 (1993)
   PUBMED   8269511
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.134962.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968968, SAMEA1970526
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000382659.7/ ENSP00000372105.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007322.4.
            On Apr 1, 2021 this sequence version replaced NM_001006118.2.
            Summary: This gene encodes a protein containing an RNA-binding
            motif in the N-terminus and four SRGY (serine, arginine, glycine,
            tyrosine) boxes in the C-terminus. Multiple copies of this gene are
            found in the AZFb azoospermia factor region of chromosome Y and the
            encoded protein is thought to be involved in spermatogenesis. Most
            copies of this locus are pseudogenes, although six highly similar
            copies have full-length ORFs and are considered functional. Four
            functional copies of this gene are found within inverted repeat
            IR2; two functional copies of this gene are found in palindrome P3,
            along with two copies of PTPN13-like, Y-linked. [provided by
            RefSeq, Jul 2008].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1882
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.223"
     gene            1..1882
                     /gene="RBMY1E"
                     /note="RNA binding motif protein Y-linked family 1 member
                     E"
                     /db_xref="GeneID:378950"
                     /db_xref="HGNC:HGNC:23916"
     misc_feature    67..69
                     /gene="RBMY1E"
                     /note="upstream in-frame stop codon"
     CDS             118..1608
                     /gene="RBMY1E"
                     /codon_start=1
                     /product="RNA-binding motif protein, Y chromosome, family 1
                     member E"
                     /protein_id="NP_001006118.2"
                     /db_xref="CCDS:CCDS35481.1"
                     /db_xref="GeneID:378950"
                     /db_xref="HGNC:HGNC:23916"
                     /translation="MVEADHPGKLFIGGLNRETNEKMLKAVFGKHGPISEVLLIKDRTS
                     KSRGFAFITFENPADAKNAAKDMNGKSLHGKAIKVEQAKKPSFQSGGRRRPPASSRNRS
                     PSGSLRSARGSRGGTRGWLPSQEGHLDDGGYTPDLKMSYSRGLIPVKRGPSSRSGGPPP
                     KKSAPSAVARSNSWMGSQGPMSQRRENYGVPPRRATISSWRNDRMSTRHDGYATNDGNH
                     PSCQETRDYAPPSRGYAYRDNGHSNRDEHSSRGYRNHRSSRETRDYAPPSRGHAYRDYG
                     HSRRDESYSRGYRNRRSSRETREYAPPSRGHGYRDYGHSRRHESYSRGYRNHPSSRETR
                     DYAPPHRDYAYRDYGHSSWDEHSSRGYSYHDGYGEALGRDHSEHLSGSSYRDALQRYGT
                     AHGAPPARGPRMSYGGSTCHAYSNTRDRYGRSWESYSSCGDFHYCDREHVCRKDQRNPP
                     SLGRVLPDPREACGSSSYVASIVDGGESRSEKGDSSRY"
     misc_feature    316..1161
                     /gene="RBMY1E"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NEQ0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1474..1605
                     /gene="RBMY1E"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NEQ0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 agggaagctc cagctgtccc tcccgcagtt ggccctgtgg tgttccgaag ccggttacgt
       61 acggcctgag ggccaggcga acctcaggct ctttgtccta ctaaaaagcg cagcacaatg
      121 gtagaagcag atcatcctgg caagcttttc attggtggcc tcaatagaga aaccaatgag
      181 aagatgctta aagcagtatt tgggaaacat ggtcccatat cagaagttct tttgataaag
      241 gatcgaacca gcaaatccag aggctttgca tttattactt ttgagaaccc tgcagatgct
      301 aagaatgctg ccaaagatat gaatggaaag tctttgcatg gaaaagcaat aaaagtagaa
      361 caagccaaga aaccatcttt tcaaagtggt ggtaggcgga gaccaccagc ttcttcgaga
      421 aacagaagcc cttcaggaag tctgagatct gcaagaggaa gccgtggagg aacaagaggg
      481 tggcttccct cacaagaagg gcacctggat gatggtggat acactcctga tctcaagatg
      541 agttattcta ggggactcat tccagttaaa agaggtccat cttcaagaag tggaggtcct
      601 cctccgaaaa aatctgctcc ttctgctgtg gcaagaagca atagttggat gggaagccaa
      661 ggtcccatgt cacaaagaag agagaattat ggagttcctc cacgcagagc gacaatatct
      721 tcctggagaa atgatcgcat gtcaacaaga catgatggtt atgcaactaa cgatggaaat
      781 catccaagtt gccaagaaac gagggattat gctccaccat ctagaggcta tgcataccgt
      841 gataatggtc attctaatcg ggatgaacat tcctctagag gatatagaaa tcatcgaagt
      901 tcccgagaaa ctagggatta tgctccacca tctagaggcc atgcataccg tgattatggt
      961 cattctcgtc gggatgaaag ttattctaga ggatacagaa atcgtcgaag ttcccgagaa
     1021 actagggagt atgctccacc atctagaggc catggatacc gtgattatgg tcattctcgt
     1081 cgacatgaaa gttattctag aggatataga aatcatccaa gttcccgaga aaccagggat
     1141 tatgctccac cacatagaga ctatgcatac cgtgattatg gtcattctag ttgggatgaa
     1201 cattcctcta gaggatatag ttatcatgat ggctacggtg aggcccttgg tagagatcat
     1261 tctgaacatc taagtggaag ttcttataga gatgcacttc agagatacgg gaccgctcat
     1321 ggtgcaccac ctgcaagagg gcctcggatg tcctatggtg gaagcacctg ccacgcatat
     1381 agtaatacac gagatagata tggcagaagt tgggagagtt actcgagctg tggtgatttt
     1441 cattattgtg atcgtgagca tgtttgcaga aaagaccaaa ggaatccgcc ttctctgggt
     1501 agggtgctcc ctgatcctcg tgaagcatgt ggtagctcaa gttatgtggc atctatagta
     1561 gatggtgggg agagtcgatc tgaaaaagga gactcgagca gatattaaag caagcattga
     1621 aagtaatagt tattgcatac caatccttgt ttgcaaatca aaaattgaaa tgttatttct
     1681 gcattgttac ctgcatatta ctgaaagaaa catgttggtt ttgtggagag aggtagatac
     1741 taacttcctc catgaatttt ttgaggtatt caaaggaaaa ggaattgttt tcaaagtaat
     1801 ttcatacttg ttgatgctat ttgaaaagtg tttagatgta atatctacct taaaattttc
     1861 acaataaaat ttgacatgta ct
//
LOCUS       NM_001006120            1921 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens RNA binding motif protein Y-linked family 1 member D
            (RBMY1D), transcript variant 1, mRNA.
ACCESSION   NM_001006120
VERSION     NM_001006120.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1921)
  AUTHORS   Tsuei DJ, Hsu HC, Lee PH, Jeng YM, Pu YS, Chen CN, Lee YC, Chou WC,
            Chang CJ, Ni YH and Chang MH.
  TITLE     RBMY, a male germ cell-specific RNA-binding protein, activated in
            human liver cancers and transforms rodent fibroblasts
  JOURNAL   Oncogene 23 (34), 5815-5822 (2004)
   PUBMED   15184870
REFERENCE   2  (bases 1 to 1921)
  AUTHORS   Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
            Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A,
            Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R,
            Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R,
            McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S,
            Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP,
            Waterston RH, Wilson RK, Rozen S and Page DC.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
REFERENCE   3  (bases 1 to 1921)
  AUTHORS   Chai NN, Zhou H, Hernandez J, Najmabadi H, Bhasin S and Yen PH.
  TITLE     Structure and organization of the RBMY genes on the human Y
            chromosome: transposition and amplification of an ancestral
            autosomal hnRNPG gene
  JOURNAL   Genomics 49 (2), 283-289 (1998)
   PUBMED   9598316
REFERENCE   4  (bases 1 to 1921)
  AUTHORS   Prosser J, Inglis JD, Condie A, Ma K, Kerr S, Thakrar R, Taylor K,
            Cameron JM and Cooke HJ.
  TITLE     Degeneracy in human multicopy RBM (YRRM), a candidate
            spermatogenesis gene
  JOURNAL   Mamm Genome 7 (11), 835-842 (1996)
   PUBMED   8875892
REFERENCE   5  (bases 1 to 1921)
  AUTHORS   Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ, Speed
            RM, Thomson EJ, Jobling M, Taylor K et al.
  TITLE     A Y chromosome gene family with RNA-binding protein homology:
            candidates for the azoospermia factor AZF controlling human
            spermatogenesis
  JOURNAL   Cell 75 (7), 1287-1295 (1993)
   PUBMED   8269511
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.134962.1,
            SRR5189667.274280.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968968, SAMEA1970526
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000382680.5/ ENSP00000372127.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007322.4.
            On Mar 10, 2016 this sequence version replaced NM_001006120.2.
            Summary: This gene encodes a protein containing an RNA-binding
            motif in the N-terminus and four SRGY (serine, arginine, glycine,
            tyrosine) boxes in the C-terminus. This protein likely functions as
            a splicing factor during spermatogenesis. Multiple closely related
            paralogs of this gene are found in a gene cluster in the AZFb
            azoospermia factor region of chromosome Y. Most of these related
            copies are thought to be pseudogenes, though several likely encode
            functional proteins. [provided by RefSeq, Mar 2016].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1921
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.223"
     gene            1..1921
                     /gene="RBMY1D"
                     /gene_synonym="hRBMY; RBM1; RBM2; RBMY1A1; YRRM1; YRRM2"
                     /note="RNA binding motif protein Y-linked family 1 member
                     D"
                     /db_xref="GeneID:378949"
                     /db_xref="HGNC:HGNC:23915"
     misc_feature    102..104
                     /gene="RBMY1D"
                     /gene_synonym="hRBMY; RBM1; RBM2; RBMY1A1; YRRM1; YRRM2"
                     /note="upstream in-frame stop codon"
     CDS             153..1643
                     /gene="RBMY1D"
                     /gene_synonym="hRBMY; RBM1; RBM2; RBMY1A1; YRRM1; YRRM2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     RNA-binding motif protein, Y chromosome, family 1 member D;
                     RNA-binding motif protein, Y chromosome, family 1 member
                     A1; RNA-binding motif protein 1; RNA-binding motif protein
                     2; Y chromosome RNA recognition motif 1"
                     /codon_start=1
                     /product="RNA-binding motif protein, Y chromosome, family 1
                     member D isoform 1"
                     /protein_id="NP_001006120.2"
                     /db_xref="CCDS:CCDS35480.1"
                     /db_xref="GeneID:378949"
                     /db_xref="HGNC:HGNC:23915"
                     /translation="MVEADHPGKLFIGGLNRETNEKMLKAVFGKHGPISEVLLIKDRTS
                     KSRGFAFITFENPADAKNAAKDMNGKSLHGKAIKVEQAKKPSFQSGGRRRPPASSRNRS
                     PSGSLRSARGSRGGTRGWLPSQEGHLDDGGYTPDLKMSYSRGLIPVKRGPSSRSGGPPP
                     KKSAPSAVARSNSWMGSQGPMSQRRENYGVPPRRATISSWRNDRMSTRHDGYATNDGNH
                     PSCQETRDYAPPSRGYAYRDNGHSNRDEHSSRGYRNHRSSRETRDYAPPSRGHAYRDYG
                     HSRRDESYSRGYRNRRSSRETREYAPPSRGHGYRDYGHSRRHESYSRGYRNHPSSRETR
                     DYAPPHRDYAYRDYGHSSWDEHSSRGYSYHDGYGEALGRDHSEHLSGSSYRDALQRYGT
                     SHGAPPARGPRMSYGGSTCHAYSNTRDRYGRSWESYSSCGDFHYCDREHVCRKDQRNPP
                     SLGRVLPDPREACGSSSYVASIVDGGESRSEKGDSSRY"
     misc_feature    351..1199
                     /gene="RBMY1D"
                     /gene_synonym="hRBMY; RBM1; RBM2; RBMY1A1; YRRM1; YRRM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7P1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1506..1640
                     /gene="RBMY1D"
                     /gene_synonym="hRBMY; RBM1; RBM2; RBMY1A1; YRRM1; YRRM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7P1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 atttccgggc acggcttccg gcgtccttcc ctctcaggga agctccagct gtccctcccg
       61 cagttggccc tgtggtgttc cgaagccggt tacgtacggc ctgagggcca ggcgaacctc
      121 aggctctttg tcctactaaa aagcgcagca caatggtaga agcagatcat cctggcaagc
      181 ttttcattgg tggcctcaat agagaaacca atgagaagat gcttaaagca gtatttggga
      241 aacatggtcc catatcagaa gttcttttga taaaggatcg aaccagcaaa tccagaggct
      301 ttgcatttat tacttttgag aaccctgcag atgctaagaa tgctgccaaa gatatgaatg
      361 gaaagtcttt gcatggaaaa gcaataaaag tagaacaagc caagaaacca tcttttcaaa
      421 gtggtggtag gcggagacca ccagcttctt cgagaaacag aagcccttca ggaagtctga
      481 gatctgcaag aggaagccgt ggaggaacaa gagggtggct tccctcacaa gaagggcacc
      541 tggatgatgg tggatacact cctgatctca agatgagtta ttctagggga ctcattccag
      601 ttaaaagagg tccatcttca agaagtggag gtcctcctcc gaaaaaatct gctccttctg
      661 ctgtggcaag aagcaatagt tggatgggaa gccaaggtcc catgtcacaa agaagagaga
      721 attatggagt tcctccacgc agagcgacaa tatcttcctg gagaaatgat cgcatgtcaa
      781 caagacatga tggttatgca actaacgatg gaaatcatcc aagttgccaa gaaacgaggg
      841 attatgctcc accatctaga ggctatgcat accgtgataa tggtcattct aatcgggatg
      901 aacattcctc tagaggatat agaaatcatc gaagttcccg agaaactagg gattatgctc
      961 caccatctag aggccatgca taccgtgatt atggtcattc tcgtcgggat gaaagttatt
     1021 ctagaggata cagaaatcgt cgaagttccc gagaaactag ggagtatgct ccaccatcta
     1081 gaggccatgg ataccgtgat tatggtcatt ctcgtcgaca tgaaagttat tctagaggat
     1141 atagaaatca tccaagttcc cgagaaacca gggattatgc tccaccacat agagactatg
     1201 cataccgtga ttatggtcat tctagttggg atgaacattc ctctagagga tatagttatc
     1261 atgatggcta cggtgaggcc cttggtagag atcattctga acatctaagt ggaagttctt
     1321 atagagatgc acttcagaga tacgggacct ctcatggtgc accacctgca agagggcctc
     1381 ggatgtccta tggtggaagc acctgccacg catatagtaa tacacgagat agatatggca
     1441 gaagttggga gagttactcg agctgtggtg attttcatta ttgtgatcgt gagcatgttt
     1501 gcagaaaaga ccaaaggaat ccgccttctc tgggtagggt gctccctgat cctcgtgaag
     1561 catgtggtag ctcaagttat gtggcatcta tagtagatgg tggggagagt cgatctgaaa
     1621 aaggagactc gagcagatat taaagcaagc attgaaaata atagttattg cataccaatc
     1681 cttgtttgca aatcaaaaat tgaaatgtta tttctgcatt gttacctgca tattactgaa
     1741 agaaacatgt tggttttgtg gagagaggta gatactaact tcctccatga attttttgag
     1801 gtattcaaag gaaaaggaat tgttttcaaa gtaatttcat acttgttgat gctatttgaa
     1861 aagtgtttag atgtaatatc taccttaaaa ttttcacaat aaaatttgac atgtactgca
     1921 a
//
LOCUS       NM_001006121            1921 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens RNA binding motif protein Y-linked family 1 member B
            (RBMY1B), transcript variant 1, mRNA.
ACCESSION   NM_001006121
VERSION     NM_001006121.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1921)
  AUTHORS   Kido T, Tabatabai ZL, Chen X and Lau YC.
  TITLE     Potential dual functional roles of the Y-linked RBMY in
            hepatocarcinogenesis
  JOURNAL   Cancer Sci 111 (8), 2987-2999 (2020)
   PUBMED   32473614
  REMARK    GeneRIF: Potential dual functional roles of the Y-linked RBMY in
            hepatocarcinogenesis.
REFERENCE   2  (bases 1 to 1921)
  AUTHORS   Tsuei DJ, Hsu HC, Lee PH, Jeng YM, Pu YS, Chen CN, Lee YC, Chou WC,
            Chang CJ, Ni YH and Chang MH.
  TITLE     RBMY, a male germ cell-specific RNA-binding protein, activated in
            human liver cancers and transforms rodent fibroblasts
  JOURNAL   Oncogene 23 (34), 5815-5822 (2004)
   PUBMED   15184870
REFERENCE   3  (bases 1 to 1921)
  AUTHORS   Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
            Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A,
            Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R,
            Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R,
            McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S,
            Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP,
            Waterston RH, Wilson RK, Rozen S and Page DC.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
REFERENCE   4  (bases 1 to 1921)
  AUTHORS   Venables JP, Elliott DJ, Makarova OV, Makarov EM, Cooke HJ and
            Eperon IC.
  TITLE     RBMY, a probable human spermatogenesis factor, and other hnRNP G
            proteins interact with Tra2beta and affect splicing
  JOURNAL   Hum Mol Genet 9 (5), 685-694 (2000)
   PUBMED   10749975
REFERENCE   5  (bases 1 to 1921)
  AUTHORS   Chai NN, Zhou H, Hernandez J, Najmabadi H, Bhasin S and Yen PH.
  TITLE     Structure and organization of the RBMY genes on the human Y
            chromosome: transposition and amplification of an ancestral
            autosomal hnRNPG gene
  JOURNAL   Genomics 49 (2), 283-289 (1998)
   PUBMED   9598316
REFERENCE   6  (bases 1 to 1921)
  AUTHORS   Prosser J, Inglis JD, Condie A, Ma K, Kerr S, Thakrar R, Taylor K,
            Cameron JM and Cooke HJ.
  TITLE     Degeneracy in human multicopy RBM (YRRM), a candidate
            spermatogenesis gene
  JOURNAL   Mamm Genome 7 (11), 835-842 (1996)
   PUBMED   8875892
REFERENCE   7  (bases 1 to 1921)
  AUTHORS   Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ, Speed
            RM, Thomson EJ, Jobling M, Taylor K et al.
  TITLE     A Y chromosome gene family with RNA-binding protein homology:
            candidates for the azoospermia factor AZF controlling human
            spermatogenesis
  JOURNAL   Cell 75 (7), 1287-1295 (1993)
   PUBMED   8269511
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000383020.7/ ENSP00000372484.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010141.2.
            On May 17, 2019 this sequence version replaced NM_001006121.3.
            Summary: This gene encodes a protein containing an RNA-binding
            motif in the N-terminus and four SRGY (serine, arginine, glycine,
            tyrosine) boxes in the C-terminus. This protein likely functions as
            a splicing factor during spermatogenesis. Multiple closely related
            paralogs of this gene are found in a gene cluster in the AZFb
            azoospermia factor region of chromosome Y. Most of these related
            copies are thought to be pseudogenes, though several likely encode
            functional proteins. [provided by RefSeq, Mar 2016].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1921
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.223"
     gene            1..1921
                     /gene="RBMY1B"
                     /gene_synonym="RBMY1D"
                     /note="RNA binding motif protein Y-linked family 1 member
                     B"
                     /db_xref="GeneID:378948"
                     /db_xref="HGNC:HGNC:23914"
     misc_feature    102..104
                     /gene="RBMY1B"
                     /gene_synonym="RBMY1D"
                     /note="upstream in-frame stop codon"
     CDS             153..1643
                     /gene="RBMY1B"
                     /gene_synonym="RBMY1D"
                     /note="isoform 1 is encoded by transcript variant 1;
                     RNA-binding motif protein, Y chromosome, family 1 member B;
                     RNA-binding motif protein, Y chromosome, family 1 member D"
                     /codon_start=1
                     /product="RNA-binding motif protein, Y chromosome, family 1
                     member B isoform 1"
                     /protein_id="NP_001006121.1"
                     /db_xref="CCDS:CCDS35479.1"
                     /db_xref="GeneID:378948"
                     /db_xref="HGNC:HGNC:23914"
                     /translation="MVEADHPGKLFIGGLNRETNEKMLKAVFGKHGPISEVLLIKDRTS
                     KSRGFAFITFENPADAKNAAKDMNGKSLHGKAIKVEQAKKPSFQSGGRRRPPASSRNRS
                     PSGSLRSARGSRGGTRGWLPSQEGHLDDGGYTPDLKMSYSRGLIPVKRGPSSRSGGPPP
                     KKSAPSAVARSNSWMGSQGPMSQRRENYGVPPRRATISSWRNDRMSTRHDGYATNDGNH
                     PSCQETRDYAPPSRGYAYRDNGHSNRDEHSSRGYRNHRSSRETRDYAPPSRGHAYRDYG
                     HSRRDESYSRGYRNRRSSRETREYAPPSRGHGYRDYGHSRRHESYSRGYRNHPSSRETR
                     DYAPPHRDYAYRDYGHSSWDEHSSRGYSYHDGYGEALGRDHSEHLSGSSYRDALQRYGT
                     SHGAPPARGPRMSYGGSTCHAYSNTRDRYGRSWESYSSCGDFHYCDREHVCRKDQRNPP
                     SLGRVLPDPREAYGSSSYVASIVDGGESRSEKGDSSRY"
     misc_feature    351..1199
                     /gene="RBMY1B"
                     /gene_synonym="RBMY1D"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDE4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1506..1640
                     /gene="RBMY1B"
                     /gene_synonym="RBMY1D"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDE4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 atttccgggc acggcttccg gcgtccttcc ctctcaggga agctccagct gtccctcccg
       61 cagttggccc tgtggtgttc cgaagccggt tacgtacggc ctgagggcca ggcgaacctc
      121 aggctctttg tcctactaaa aagcgcagca caatggtaga agcagatcat cctggcaagc
      181 ttttcattgg tggcctcaat agagaaacca atgagaagat gcttaaagca gtatttggga
      241 aacatggtcc catatcagaa gttcttttga taaaggatcg aaccagcaaa tccagaggct
      301 ttgcatttat tacttttgag aaccctgcag atgctaagaa tgctgccaaa gatatgaatg
      361 gaaagtcttt gcatggaaaa gcaataaaag tagaacaagc caagaaacca tcttttcaaa
      421 gtggtggtag gcggagacca ccagcttctt cgagaaacag aagcccttca ggaagtctga
      481 gatctgcaag aggaagccgt ggaggaacaa gagggtggct tccctcacaa gaagggcacc
      541 tggatgatgg tggatacact cctgatctca agatgagtta ttctagggga ctcattccag
      601 ttaaaagagg tccatcttca agaagtggag gtcctcctcc gaaaaaatct gctccttctg
      661 ctgtggcaag aagcaatagt tggatgggaa gccaaggtcc catgtcacaa agaagagaga
      721 attatggagt tcctccacgc agagcgacaa tatcttcctg gagaaatgat cgcatgtcaa
      781 caagacatga tggttatgca actaacgatg gaaatcatcc aagttgccaa gaaacgaggg
      841 attatgctcc accatctaga ggctatgcat accgtgataa tggtcattct aatcgggatg
      901 aacattcctc tagaggatat agaaatcatc gaagttcccg agaaactagg gattatgctc
      961 caccatctag aggccatgca taccgtgatt atggtcattc tcgtcgggat gaaagttatt
     1021 ctagaggata cagaaatcgt cgaagttccc gagaaactag ggagtatgct ccaccatcta
     1081 gaggccatgg ataccgtgat tatggtcatt ctcgtcgaca tgaaagttat tctagaggat
     1141 atagaaatca tccaagttcc cgagaaacca gggattatgc tccaccacat agagactatg
     1201 cataccgtga ttatggtcat tctagttggg atgaacattc ctctagagga tatagttatc
     1261 atgatggcta cggtgaggcc cttggtagag atcattctga acatctaagt ggaagttctt
     1321 atagagatgc acttcagaga tacgggacct ctcatggtgc accacctgca agagggcctc
     1381 ggatgtctta tggtggaagc acctgccacg catatagtaa tacacgagat agatatggca
     1441 gaagttggga gagttactcg agctgtggtg attttcatta ttgtgatcgt gagcatgttt
     1501 gcagaaaaga ccaaaggaat ccgccttctc tgggtagggt gctccctgat cctcgtgaag
     1561 catatggtag ctcaagttat gtggcatcta tagtagatgg tggggagagt cgatctgaaa
     1621 aaggagactc gagcagatat taaagcaagc attgaaagta atagttattg cataccaatc
     1681 cttgtttgca aatcaaaaat tgaaatgtta tttctgcatt gttacctgca tattactgaa
     1741 agaaacatgt tggttttgtg gagagaggta gatactaact tcctccatga attttttgag
     1801 gtattcaaag gaaaaggaat tgttttcaaa gtaatttcat acttgttgat gctatttgaa
     1861 aagtgtttag atgtaatatc taccttaaaa ttttcacaat aaaatttgac atgtactgca
     1921 a
//
LOCUS       NM_001006605            2536 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens divergent protein kinase domain 1A (DIPK1A), transcript
            variant 1, mRNA.
ACCESSION   NM_001006605
VERSION     NM_001006605.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2536)
  AUTHORS   Dudkiewicz M, Lenart A and Pawlowski K.
  TITLE     A novel predicted calcium-regulated kinase family implicated in
            neurological disorders
  JOURNAL   PLoS One 8 (6), e66427 (2013)
   PUBMED   23840464
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2536)
  AUTHORS   Tennant-Eyles AJ, Moffitt H, Whitehouse CA and Roberts RG.
  TITLE     Characterisation of the FAM69 family of cysteine-rich endoplasmic
            reticulum proteins
  JOURNAL   Biochem Biophys Res Commun 406 (3), 471-477 (2011)
   PUBMED   21334309
REFERENCE   3  (bases 1 to 2536)
  AUTHORS   Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN,
            Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S,
            Ferreira T, Wood AR, Weyant RJ, Segre AV, Speliotes EK, Wheeler E,
            Soranzo N, Park JH, Yang J, Gudbjartsson D, Heard-Costa NL, Randall
            JC, Qi L, Vernon Smith A, Magi R, Pastinen T, Liang L, Heid IM, Luan
            J, Thorleifsson G, Winkler TW, Goddard ME, Sin Lo K, Palmer C,
            Workalemahu T, Aulchenko YS, Johansson A, Zillikens MC, Feitosa MF,
            Esko T, Johnson T, Ketkar S, Kraft P, Mangino M, Prokopenko I,
            Absher D, Albrecht E, Ernst F, Glazer NL, Hayward C, Hottenga JJ,
            Jacobs KB, Knowles JW, Kutalik Z, Monda KL, Polasek O, Preuss M,
            Rayner NW, Robertson NR, Steinthorsdottir V, Tyrer JP, Voight BF,
            Wiklund F, Xu J, Zhao JH, Nyholt DR, Pellikka N, Perola M, Perry JR,
            Surakka I, Tammesoo ML, Altmaier EL, Amin N, Aspelund T, Bhangale T,
            Boucher G, Chasman DI, Chen C, Coin L, Cooper MN, Dixon AL, Gibson
            Q, Grundberg E, Hao K, Juhani Junttila M, Kaplan LM, Kettunen J,
            Konig IR, Kwan T, Lawrence RW, Levinson DF, Lorentzon M, McKnight B,
            Morris AP, Muller M, Suh Ngwa J, Purcell S, Rafelt S, Salem RM,
            Salvi E, Sanna S, Shi J, Sovio U, Thompson JR, Turchin MC, Vandenput
            L, Verlaan DJ, Vitart V, White CC, Ziegler A, Almgren P, Balmforth
            AJ, Campbell H, Citterio L, De Grandi A, Dominiczak A, Duan J,
            Elliott P, Elosua R, Eriksson JG, Freimer NB, Geus EJ, Glorioso N,
            Haiqing S, Hartikainen AL, Havulinna AS, Hicks AA, Hui J, Igl W,
            Illig T, Jula A, Kajantie E, Kilpelainen TO, Koiranen M, Kolcic I,
            Koskinen S, Kovacs P, Laitinen J, Liu J, Lokki ML, Marusic A,
            Maschio A, Meitinger T, Mulas A, Pare G, Parker AN, Peden JF,
            Petersmann A, Pichler I, Pietilainen KH, Pouta A, Ridderstrale M,
            Rotter JI, Sambrook JG, Sanders AR, Schmidt CO, Sinisalo J, Smit JH,
            Stringham HM, Bragi Walters G, Widen E, Wild SH, Willemsen G, Zagato
            L, Zgaga L, Zitting P, Alavere H, Farrall M, McArdle WL, Nelis M,
            Peters MJ, Ripatti S, van Meurs JB, Aben KK, Ardlie KG, Beckmann JS,
            Beilby JP, Bergman RN, Bergmann S, Collins FS, Cusi D, den Heijer M,
            Eiriksdottir G, Gejman PV, Hall AS, Hamsten A, Huikuri HV, Iribarren
            C, Kahonen M, Kaprio J, Kathiresan S, Kiemeney L, Kocher T, Launer
            LJ, Lehtimaki T, Melander O, Mosley TH Jr, Musk AW, Nieminen MS,
            O'Donnell CJ, Ohlsson C, Oostra B, Palmer LJ, Raitakari O, Ridker
            PM, Rioux JD, Rissanen A, Rivolta C, Schunkert H, Shuldiner AR,
            Siscovick DS, Stumvoll M, Tonjes A, Tuomilehto J, van Ommen GJ,
            Viikari J, Heath AC, Martin NG, Montgomery GW, Province MA, Kayser
            M, Arnold AM, Atwood LD, Boerwinkle E, Chanock SJ, Deloukas P,
            Gieger C, Gronberg H, Hall P, Hattersley AT, Hengstenberg C, Hoffman
            W, Lathrop GM, Salomaa V, Schreiber S, Uda M, Waterworth D, Wright
            AF, Assimes TL, Barroso I, Hofman A, Mohlke KL, Boomsma DI,
            Caulfield MJ, Cupples LA, Erdmann J, Fox CS, Gudnason V, Gyllensten
            U, Harris TB, Hayes RB, Jarvelin MR, Mooser V, Munroe PB, Ouwehand
            WH, Penninx BW, Pramstaller PP, Quertermous T, Rudan I, Samani NJ,
            Spector TD, Volzke H, Watkins H, Wilson JF, Groop LC, Haritunians T,
            Hu FB, Kaplan RC, Metspalu A, North KE, Schlessinger D, Wareham NJ,
            Hunter DJ, O'Connell JR, Strachan DP, Wichmann HE, Borecki IB, van
            Duijn CM, Schadt EE, Thorsteinsdottir U, Peltonen L, Uitterlinden
            AG, Visscher PM, Chatterjee N, Loos RJ, Boehnke M, McCarthy MI,
            Ingelsson E, Lindgren CM, Abecasis GR, Stefansson K, Frayling TM and
            Hirschhorn JN.
  TITLE     Hundreds of variants clustered in genomic loci and biological
            pathways affect human height
  JOURNAL   Nature 467 (7317), 832-838 (2010)
   PUBMED   20881960
REFERENCE   4  (bases 1 to 2536)
  AUTHORS   Alcina A, Fernandez O, Gonzalez JR, Catala-Rabasa A, Fedetz M,
            Ndagire D, Leyva L, Guerrero M, Arnal C, Delgado C, Lucas M,
            Izquierdo G and Matesanz F.
  TITLE     Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple
            sclerosis
  JOURNAL   Eur J Hum Genet 18 (7), 827-831 (2010)
   PUBMED   20087403
  REMARK    GeneRIF: An analysis and fine mapping of GFI-EVI5-RPL5-FAM69A locus,
            genotyping eight Tag-single nucleotide polymorphisms in 732 multiple
            sclerosis patients and 974 controls from Spain, was performed.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 2536)
  AUTHORS   Hoppenbrouwers IA, Aulchenko YS, Janssens AC, Ramagopalan SV, Broer
            L, Kayser M, Ebers GC, Oostra BA, van Duijn CM and Hintzen RQ.
  TITLE     Replication of CD58 and CLEC16A as genome-wide significant risk
            genes for multiple sclerosis
  JOURNAL   J Hum Genet 54 (11), 676-680 (2009)
   PUBMED   19834503
  REMARK    GeneRIF: Observational study and meta-analysis of gene-disease
            association. (HuGE Navigator)
REFERENCE   6  (bases 1 to 2536)
  CONSRTM   Australia and New Zealand Multiple Sclerosis Genetics Consortium
            (ANZgene)
  TITLE     Genome-wide association study identifies new multiple sclerosis
            susceptibility loci on chromosomes 12 and 20
  JOURNAL   Nat Genet 41 (7), 824-828 (2009)
   PUBMED   19525955
REFERENCE   7  (bases 1 to 2536)
  AUTHORS   D'Netto MJ, Ward H, Morrison KM, Ramagopalan SV, Dyment DA, DeLuca
            GC, Handunnetthi L, Sadovnick AD and Ebers GC.
  TITLE     Risk alleles for multiple sclerosis in multiplex families
  JOURNAL   Neurology 72 (23), 1984-1988 (2009)
   PUBMED   19506219
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2536)
  AUTHORS   Hafler DA, Compston A, Sawcer S, Lander ES, Daly MJ, De Jager PL, de
            Bakker PI, Gabriel SB, Mirel DB, Ivinson AJ, Pericak-Vance MA,
            Gregory SG, Rioux JD, McCauley JL, Haines JL, Barcellos LF, Cree B,
            Oksenberg JR and Hauser SL.
  CONSRTM   International Multiple Sclerosis Genetics Consortium
  TITLE     Risk alleles for multiple sclerosis identified by a genomewide study
  JOURNAL   N Engl J Med 357 (9), 851-862 (2007)
   PUBMED   17660530
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.19228.1,
            SRR3476690.713774.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370310.5/ ENSP00000359333.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL702320.1 and AL162740.13.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001006605.4.
            Summary: This gene encodes a member of the FAM69 family of
            cysteine-rich type II transmembrane proteins. These proteins
            localize to the endoplasmic reticulum but their specific functions
            are unknown. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, Nov 2011].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2536
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.1"
     gene            1..2536
                     /gene="DIPK1A"
                     /gene_synonym="FAM69A"
                     /note="divergent protein kinase domain 1A"
                     /db_xref="GeneID:388650"
                     /db_xref="HGNC:HGNC:32213"
                     /db_xref="MIM:614542"
     CDS             34..1320
                     /gene="DIPK1A"
                     /gene_synonym="FAM69A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein FAM69A; family with sequence similarity 69 member
                     A"
                     /codon_start=1
                     /product="divergent protein kinase domain 1A isoform 1"
                     /protein_id="NP_001006606.2"
                     /db_xref="CCDS:CCDS44173.1"
                     /db_xref="GeneID:388650"
                     /db_xref="HGNC:HGNC:32213"
                     /db_xref="MIM:614542"
                     /translation="MARSLCPGAWLRKPYYLQARFSYVRMKYLFFSWLVVFVGSWIIYV
                     QYSTYTELCRGKDCKKIICDKYKTGVIDGPACNSLCVTETLYFGKCLSTKPNNQMYLGI
                     WDNLPGVVKCQMEQALHLDFGTELEPRKEIVLFDKPTRGTTVQKFKEMVYSLFKAKLGD
                     QGNLSELVNLILTVADGDKDGQVSLGEAKSAWALLQLNEFLLMVILQDKEHTPKLMGFC
                     GDLYVMESVEYTSLYGISLPWVIELFIPSGFRRSMDQLFTPSWPRKAKIAIGLLEFVED
                     VFHGPYGNFLMCDTSAKNLGYNDKYDLKMVDMRKIVPETNLKELIKDRHCESDLDCVYG
                     TDCRTSCDQSTMKCTSEVIQPNLAKACQLLKDYLLRGAPSEIREELEKQLYSCIALKVT
                     ANQMEMEHSLILNNLKTLLWKKISYTNDS"
     misc_feature    115..177
                     /gene="DIPK1A"
                     /gene_synonym="FAM69A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T7M9.1);
                     transmembrane region"
     regulatory      2516..2521
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DIPK1A"
                     /gene_synonym="FAM69A"
                     /note="hexamer: AATAAA"
     polyA_site      2536
                     /gene="DIPK1A"
                     /gene_synonym="FAM69A"
                     /note="major polyA site"
ORIGIN
        1 gactgcagcg cggcggggcg atgtgtgatt accatggcga ggagtctctg tccgggggcc
       61 tggctaagga aaccctatta cctccaggct cgcttctcat atgtgcggat gaaatatctt
      121 ttcttttcct ggttagtggt ttttgttgga agctggatta tatatgtgca gtattctacc
      181 tatacagaat tatgcagagg aaaggactgt aagaaaataa tatgtgacaa gtacaagact
      241 ggagttattg atgggcctgc atgtaacagc ctttgtgtta cagaaactct ttactttgga
      301 aaatgtttat ccaccaagcc caacaatcag atgtatttag ggatttggga taatctacca
      361 ggtgttgtga aatgtcaaat ggaacaagcg cttcatcttg attttggaac tgaattggaa
      421 ccaagaaaag aaatagtgct atttgataag ccaactagag gaactactgt acaaaaattt
      481 aaagaaatgg tctatagtct ctttaaggca aaattgggtg accaaggaaa cctctctgaa
      541 ctggttaatc tcatcttgac ggtggctgat ggagacaaag atggccaggt ttccttggga
      601 gaagcaaagt cggcatgggc acttcttcaa ctgaatgaat ttcttctcat ggtgatactt
      661 caagataaag aacatacccc caaattaatg ggattctgtg gtgacctcta tgtgatggaa
      721 agtgttgaat atacctctct ttatggaata agccttcctt gggtcattga actttttatt
      781 ccatctgggt tcagaagaag catggatcag ctgttcacac catcatggcc aagaaaggcc
      841 aaaatagcca taggacttct agaatttgtg gaagatgttt tccatggccc ctacggaaat
      901 ttcctcatgt gcgatactag tgccaaaaac ctaggatata atgataagta tgatttgaaa
      961 atggtggata tgagaaaaat tgtgccagag acaaacctga aagaacttat taaggatcgt
     1021 cactgtgagt ctgatttgga ctgtgtctat ggcacagatt gtagaactag ctgtgatcag
     1081 agtacaatga agtgtacttc agaagtgata caaccaaact tggcaaaagc ttgtcagtta
     1141 ctcaaagact acctactgcg tggtgctcca agtgaaattc gtgaagaatt agaaaagcag
     1201 ctttattctt gtattgctct caaagtcaca gcaaatcaaa tggaaatgga acattctttg
     1261 atactaaata acctaaaaac attattgtgg aagaaaattt cctacactaa tgactcttag
     1321 ttcatttgga cataattacc attttaagaa acctgccact tttaaagaac aattttgagc
     1381 attaaaaaaa aatggcttca aattccggcc agttacacaa aactccttcc ccccaggcct
     1441 gagaagccat cagtatgtga tcactgaagt aatggcaggt gtaggatcaa caggtcccca
     1501 agatgtcatt cctgcccttt tagaagccct gttacatctc cgaagtacat tcattgtgta
     1561 actattttga ctgactttaa aaaccaatgc tgtgaaaagc ttcattccat aaacatcaac
     1621 agtgagtgat ttgtagattt accttagcca aaataccaat gctggaagca ttgtgtttgc
     1681 attgaagctg ctgttcaaca agaaaattta taaatttact aatgtcttag catggtaaag
     1741 tttgcacatt aacagaaatt aagactgcaa agcaggttaa acttgcttct ttataaaaca
     1801 gatgttgggt taatagcatg gtttactgta ttaaagactt atacacccat ttttaacctc
     1861 attcagacat caagttatgt gtagcttcac aatggttcaa gtggcttact tcaagaaatc
     1921 ttatacttga cagtacacca attttattga ctaaaaatgg atgaactttc ctaaagattc
     1981 aaagggccca tcttagtatc acgcagctga ctgagccctt caaaactgac atcttaaggc
     2041 ccaatcaaga tccacatatc ctgattttga actatgtgaa agtgggactg taagtgcaag
     2101 actaaaataa attatagcag actttttagt aataactttc cattttcaaa cagtatatcc
     2161 tgtgggccaa agggctattt cttaaagagg catgtaaatg tatttattta tctaatgttt
     2221 ttttccccat gtaaacttga tatacaaggt ttagtatttg ctcctctttc atattatttt
     2281 cacacgtata ctcagatttg gcatgtacct ttcaacatct ccataaaatt aaacaccttt
     2341 tggagaaaag aaccactatt ttctgctcaa aggtttcgcc tacctaaagt ggaacatgtt
     2401 aaaaatctat gtgaccatca ctggacagct ttctctcaaa actttccttc aacgccatgg
     2461 attagcacca gttttgttta ctttaaggta cttttcccat tcatcatctg gttataataa
     2521 atggatggaa gaaata
//
LOCUS       NM_001006607            5415 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens leucine rich repeat containing 37 member A2 (LRRC37A2),
            transcript variant 1, mRNA.
ACCESSION   NM_001006607
VERSION     NM_001006607.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5415)
  AUTHORS   Giannuzzi G, Siswara P, Malig M, Marques-Bonet T, Mullikin JC,
            Ventura M and Eichler EE.
  CONSRTM   NISC Comparative Sequencing Program
  TITLE     Evolutionary dynamism of the primate LRRC37 gene family
  JOURNAL   Genome Res 23 (1), 46-59 (2013)
   PUBMED   23064749
REFERENCE   2  (bases 1 to 5415)
  AUTHORS   Bekpen C, Tastekin I, Siswara P, Akdis CA and Eichler EE.
  TITLE     Primate segmental duplication creates novel promoters for the LRRC37
            gene family within the 17q21.31 inversion polymorphism region
  JOURNAL   Genome Res 22 (6), 1050-1058 (2012)
   PUBMED   22419166
REFERENCE   3  (bases 1 to 5415)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   4  (bases 1 to 5415)
  AUTHORS   Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR,
            Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR,
            Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen
            CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K,
            FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham
            DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S,
            Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G,
            Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P,
            Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J,
            Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith
            C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker
            CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J,
            Lander ES and Nusbaum C.
  TITLE     DNA sequence of human chromosome 17 and analysis of rearrangement in
            the human lineage
  JOURNAL   Nature 440 (7087), 1045-1049 (2006)
   PUBMED   16625196
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY386262.1, SRR14038193.680626.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000576629.6/ ENSP00000459551.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC138645.3.
            On Sep 3, 2021 this sequence version replaced NM_001006607.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..5415
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31-q21.32"
     gene            1..5415
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="leucine rich repeat containing 37 member A2"
                     /db_xref="GeneID:474170"
                     /db_xref="HGNC:HGNC:32404"
                     /db_xref="MIM:616556"
     misc_feature    213..215
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="upstream in-frame stop codon"
     CDS             246..5348
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; c114 SLIT-like testicular protein; Leucine-rich
                     repeat-containing protein 37A2"
                     /codon_start=1
                     /product="leucine-rich repeat-containing protein 37A2
                     isoform 1 precursor"
                     /protein_id="NP_001006608.2"
                     /db_xref="CCDS:CCDS42353.1"
                     /db_xref="GeneID:474170"
                     /db_xref="HGNC:HGNC:32404"
                     /db_xref="MIM:616556"
                     /translation="MSSAQCPALVCVMSRLRFWGPWPLLMWQLLWLLVKEAQPLEWVKD
                     PLQLTSNPLGPPDSWSSHSSHFPRESPHAPTLPADPWDFDHLGPSASSEMPAPPQESTE
                     NLVPFLDTWDSAGEQPLEPEQFLASQQDLKDKLSPQERLPVSPKKLKKDPAQRWSLAEI
                     IGITRQLSTPQSQKQTLQNEYSSTDTPYPGSLPPELRVKSDEPPGPSEQVGPSQFHLEP
                     ETQNPETLEDIQSSSLQQEAPAQLPQLLEEEPSSMQQEAPALPPESSMESLTLPNHEVS
                     VQPPGEDQAYYHLPNITVKPADVEVTITSEPTNETESSQAQQETPIQFPEEVEPSATQQ
                     EAPIEPPVPPMEHELSISEQQQPVQPSESPREVESSPTQQETPGQPPEHHEVTVSPPGH
                     HQTHHLASPSVSVKPPDVQLTIAAEPSAEVGTSLVHQEATTRLSGSGNDVEPPAIQHGG
                     PPLLPESSEEAGPLAVQQETSFQSPEPINNENPSPTQQEAAAEHPQTAEEGESSLTHQE
                     APAQTPEFPNVVVAQPPEHSHLTQATVQPLDLGFTITPESKTEVELSPTMKETPTQPPK
                     KVVPQLRVYQGVTNPTPGQDQAQHPVSPSVTVQLLDLGLTITPEPTTEVGHSTPPKRTI
                     VSPKHPEVTLPHPDQVQTQHSHLTRATVQPLDLGFTITPKSMTEVEPSTALMTTAPPPG
                     HPEVTLPPSDKGQAQHSHLTQATVQPLDLELTITTKPTTEVKPSPTTEETSTQPPDLGL
                     AIIPEPTTETRHSTALEKTTAPRPDRVQTLHRSLTEVTGPPTELEPAQDSLVQSESYTQ
                     NKALTAPEEHKASTSTNICELCTCGDEMLSCIDLNPEQRLRQVPVPEPNTHNGTFTILN
                     FQGNYISYIDGNVWKAYSWTEKLILRENNLTELHKDSFEGLLSLQYLDLSCNKIQSIER
                     HTFEPLPFLKFINLSCNVITELSFGTFQAWHGMQFLHKLILNHNPLTTVEDPYLFKLPA
                     LKYLDMGTTLVPLTTLKNILMMTVELEKLILPSHMACCLCQFKNSIEAVCKTVKLHCNS
                     ACLTNTTHCPEEASVGNPEGAFMKVLQARKNYTSTELIVEPEEPSDSSGINLSGFGSEQ
                     LDTNDESDFISTLSYILPYFSAVNLDVKSLLLPFIKLPTTGNSLAKIQTVGQNRQRVKR
                     VLMGPRSIQKRHFKEVGRQSIRREQGAQASVENAAEEKRLGSPAPREVEQPHTQQGPEK
                     LAGNAVYTKPSFTQEHKAAVSVLKPFSKGAPSTSSPAKALPQVRDRWKDLTHAISILES
                     AKARVTNTKTSKPIVHARKKYRFHKTRSHVTHRTPKVKKSPKVRKKSYLSRLMLANRLP
                     FSAAKSLINSPSQGAFSSLGDLSPQENPFLEVSAPSEHFIENNNTKHTTARNAFEENDF
                     MENTNMPEGTISENTNYNHPHEADSAGTAFNLGPTVKQTETKWEYNNVGTDLSPEPKSF
                     NYPLLSSPGDQFEIQLTQQLQSLIPNNNVRRLIAHVIRTLKMDCSGAHVQVTCAKLISR
                     TGHLMKLLSGQQEVKASKIEWDTDQWKIENYINESTEAQSEQKEKSLELKKEVPGYGYT
                     DKLILALIVTGILTILIILFCLIVICCHRRSLQEDEEGFSRGIFRFLPWRGCSSRRESQ
                     DGLSSFGQPLWFKDMYKPLSATRINNHAWKLHKKSSNEDKILNRDPGDSEAPTEEEESE
                     ALP"
     sig_peptide     246..350
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (A6NM11.2)"
     mat_peptide     351..5345
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /product="Leucine-rich repeat-containing protein 37A2.
                     /id=PRO_0000337080"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2)"
     misc_feature    405..557
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    633..713
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    654..725
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: LRR 1"
     misc_feature    750..1847
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1131..1133
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NM11.2); glycosylation site"
     misc_feature    1920..1985
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2100..2171
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2430..2501
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2835..2906
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: LRR 4"
     misc_feature    2907..2978
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: LRR 5"
     misc_feature    2979..3050
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: LRR 6"
     misc_feature    3054..3122
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: LRR 7"
     misc_feature    3132..3206
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: LRR 8"
     misc_feature    3249..3326
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: LRR 9"
     misc_feature    3480..3482
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NM11.2); glycosylation site"
     misc_feature    3615..3683
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: LRR 10"
     misc_feature    3789..3926
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4170..4229
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4992..5054
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     transmembrane region"
     misc_feature    5268..5345
                     /gene="LRRC37A2"
                     /gene_synonym="LRRC37"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NM11.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 accctacccc accacagcag gcgctggagt cctgggacca ccagggtctg aggcccaaat
       61 ccttcctcac taaggggagg agaggggtgt tccggcaggg caggatggga aggcgtgctt
      121 gggcgggatt gtgacataag agtgccctgg tgacatggag cagatctgtg acataaataa
      181 aggtgtcata aagacagggc ggggctcacg cttagaaggg gcacgagcgt ctcggagctg
      241 ccagaatgtc ttctgctcag tgcccggcac tagtgtgtgt catgtcccgg ctgcgtttct
      301 ggggcccatg gcccctcctt atgtggcaac tattgtggct actagttaag gaggctcagc
      361 ctctggagtg ggtcaaggac ccgctccagc tcacctctaa tcccctgggg ccgcctgact
      421 cctggtcttc ccactcctcc catttcccac gggaatctcc ccatgcgcct actctcccag
      481 cagacccgtg ggactttgat cacctggggc cctctgcttc ctcagagatg ccagccccac
      541 cccaggaatc gactgaaaat ttggttccat tcctggacac ctgggattca gctggagagc
      601 agcccctgga gccagagcag ttcttggctt cacagcagga tttaaaggac aagctgagtc
      661 cacaggaaag actccctgtt tcgcccaaga agctgaagaa agatccagct cagcgttgga
      721 gccttgctga gattattgga attacacgcc aattatccac acctcagagt cagaaacaga
      781 ctttgcagaa tgaatattcc agtacagata caccgtatcc cggtagcctg cctccagaac
      841 tccgggtgaa gtcagatgag cctccagggc cctctgagca agttggacct tctcaattcc
      901 atctagagcc cgaaactcaa aatccagaga cccttgaaga catccagtcc tcttcactcc
      961 agcaagaagc cccagcacag cttccacagc tccttgagga agaaccttct tcaatgcagc
     1021 aggaggcccc agctctgcct ccagagtcct ctatggagag tctaactcta ccgaatcatg
     1081 aggtgtcagt tcaacctcca ggtgaggatc aagcttatta tcacttgccc aacattacag
     1141 ttaaacctgc agatgtggag gttaccataa cttcagagcc taccaatgag acagaatctt
     1201 cccaagccca gcaggagacc ccaattcagt ttccagagga ggtggaacct tctgcaaccc
     1261 aacaggaggc cccaattgag cctccagttc ctcctatgga gcatgaactt tccatcagtg
     1321 agcagcagca gccagttcag ccttctgagt ctcctaggga ggtcgaatct tctccgaccc
     1381 agcaggagac cccaggtcag cctccagaac atcatgaagt cacagtttca cctccaggtc
     1441 accatcaaac tcatcattta gcttcaccca gtgtctctgt gaagcctcca gacgtgcagc
     1501 tcaccatagc agcagagcct agtgcagagg tgggaacttc tctagtccac caggaggcta
     1561 caactcggct ctcagggtca ggtaatgatg tagaacctcc cgccatccag cacgggggcc
     1621 cacctctgct tccagagtca tcagaagaag ctggaccttt agcagttcaa caggagactt
     1681 catttcaatc tccggaacct attaataatg agaacccctc tccaacccag caggaggctg
     1741 cagctgagca tccacagacc gctgaggagg gtgagtcttc cctaacccat caggaggccc
     1801 cagctcagac tccagagttc cctaatgtag ttgtagctca acctccagag cattcacacc
     1861 tgactcaagc cacagttcaa cctttggatc tggggtttac catcactcca gaatccaaga
     1921 cagaggttga actttctcca accatgaagg agaccccaac tcagcctcct aagaaagttg
     1981 taccccaact tcgagtatat caaggggtaa caaatccaac accaggtcag gatcaagctc
     2041 agcatccagt gtcacccagc gttacagttc aacttttgga cctgggactt accatcactc
     2101 cagaacctac tacggaggtt ggacattcta cacccccgaa gaggactata gtttctccaa
     2161 agcatcctga ggtgacactt ccacatccag accaggttca gactcagcat tcacacctga
     2221 ctcgagccac agttcaacct ttggacctgg ggtttaccat cactccaaaa tccatgacag
     2281 aggttgaacc ttctacagcc ctgatgacta cagctcctcc tccaggacac cctgaggtga
     2341 cacttccacc ttcagacaag ggtcaggctc agcattcaca cctgactcaa gccaccgttc
     2401 aacctctgga cctggagctt accataacta caaaacctac tacagaggtt aaaccatctc
     2461 caaccacgga ggagacctca actcagcctc cagacctggg acttgccatc attccagaac
     2521 ccactacaga gactagacat tctacagccc tggagaagac tacagctcct cgtccagacc
     2581 gggttcagac tctgcatcga agcctgactg aagtcacagg tccacctact gaactagaac
     2641 ctgctcagga ttcactggtg cagtctgaaa gttacaccca aaataaggct ttaactgcac
     2701 cagaggaaca caaggcctcc acaagcacca acatatgtga gctctgtacc tgcggagatg
     2761 agatgttgtc atgtattgat ctcaacccag agcagaggct ccgccaagtg cctgtgccag
     2821 agcccaacac ccacaatggc accttcacca tcttaaattt ccaaggaaac tatatttctt
     2881 acattgatgg aaatgtatgg aaagcataca gttggaccga gaaactaatt ctcagagaaa
     2941 ataacttgac tgaattacac aaggattcat ttgaaggcct gctatccctc cagtatttag
     3001 atttatcctg caataaaata cagtctattg aaagacatac atttgaacca ctaccatttt
     3061 tgaagtttat aaatcttagt tgcaatgtaa ttacagaact cagctttgga acatttcagg
     3121 cctggcacgg aatgcagttt ttacataagt taattctcaa tcacaatcct ctgacaactg
     3181 ttgaagatcc gtatctcttt aaattgccag cattaaaata tctagacatg ggaacaacgc
     3241 tagtcccact tacaacactt aagaacattc tcatgatgac tgttgaactg gaaaaactga
     3301 tcttacctag ccatatggcc tgctgcctct gccaatttaa aaacagcatt gaggctgtct
     3361 gcaagacagt caagctgcat tgcaacagtg catgtctgac aaacaccaca cattgtcctg
     3421 aagaagcatc ggtagggaat ccagaaggag cgttcatgaa ggtgttacaa gcccggaaga
     3481 actacacaag cactgagctg attgttgagc cagaggagcc ctcagacagc agtggcatca
     3541 acttgtcagg ctttgggagt gagcagctag acaccaatga cgagagtgat tttatcagta
     3601 cactaagtta catcttgcct tatttctcag cggtaaacct agatgtgaaa tcactgttac
     3661 taccgttcat taaactgcca accacaggaa acagcctggc aaagattcaa actgtaggcc
     3721 aaaaccggca gagagtgaag agagtcctca tgggcccaag gagcatccag aaaaggcact
     3781 tcaaagaggt aggaaggcag agcatcagga gggaacaggg tgcccaggca tctgtggaga
     3841 acgctgccga agaaaaaagg ctcgggagtc cagccccaag ggaggtggaa cagccccaca
     3901 cacagcaggg gcctgagaag ttagcgggaa acgccgtcta caccaagcct tccttcaccc
     3961 aagagcataa ggcagcagtc tctgtgctga aacccttctc caagggcgcg ccttctacct
     4021 ccagccctgc aaaagcccta ccacaggtga gagacagatg gaaagactta acccacgcta
     4081 tttccatttt agaaagtgca aaggctagag ttacaaatac gaagacgtct aaaccaatcg
     4141 tacatgccag aaaaaaatac cgctttcaca aaactcgctc ccacgtgacc cacagaacac
     4201 ccaaagtcaa aaagagtcca aaggtcagaa agaaaagtta tctgagtaga ctgatgctcg
     4261 caaacaggct tccattctct gcagcgaaga gcctcataaa ttccccttca caaggggctt
     4321 tttcatcctt aggagacctg agtcctcaag aaaacccttt tctggaagta tctgctcctt
     4381 cagaacattt tatagaaaac aataatacaa aacacacaac tgcaagaaat gcctttgaag
     4441 aaaatgattt tatggaaaac actaacatgc cagaaggaac catctctgaa aacacaaact
     4501 acaatcatcc tcatgaggca gattccgctg ggactgcatt caacttaggg ccaactgtta
     4561 aacaaactga gacaaaatgg gaatacaaca acgtgggcac tgacctgtcc cccgagccca
     4621 aaagcttcaa ttacccattg ctctcgtccc caggtgatca gtttgaaatt cagctaaccc
     4681 agcagctaca gtcccttatc cccaacaaca atgtgagaag gctcattgct catgttatcc
     4741 ggaccttgaa gatggactgc tctggggccc atgtgcaagt gacctgtgcc aagctcatct
     4801 ccaggacagg ccacctgatg aagcttctca gtgggcagca ggaagtaaag gcatccaaga
     4861 tagaatggga tacggaccaa tggaagattg agaactacat taatgagagc acagaagccc
     4921 agagtgaaca gaaagagaag tcgcttgagc tcaaaaaaga agttccagga tatggctata
     4981 ctgacaaact catcttggca ttaattgtta ctggaatact aacgattttg attatacttt
     5041 tctgcctcat tgtgatatgt tgtcaccgaa ggtcattaca agaagatgaa gaaggattct
     5101 caaggggcat tttcagattt ctgccatgga ggggatgctc ttcgcgaagg gagagtcagg
     5161 atggactttc ctcatttgga cagccgctct ggtttaaaga tatgtacaaa cctctcagtg
     5221 ccacaagaat aaataatcat gcatggaagc tgcacaagaa gtcatctaat gaggacaaga
     5281 tcctcaacag ggaccctggg gacagcgaag ccccaacgga ggaggaggag agtgaagccc
     5341 tgccatagga ggagaacaca gcccacctca ggcctcctgc aaaaatacat agaataaaca
     5401 acaacagtta ctaaa
//
LOCUS       NM_001006617            3369 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens MAPK associated protein 1 (MAPKAP1), transcript variant
            1, mRNA.
ACCESSION   NM_001006617
VERSION     NM_001006617.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3369)
  AUTHORS   Yu Z, Chen J, Takagi E, Wang F, Saha B, Liu X, Joubert LM, Gleason
            CE, Jin M, Li C, Nowotny C, Agard D, Cheng Y and Pearce D.
  TITLE     Interactions between mTORC2 core subunits Rictor and mSin1 dictate
            selective and context-dependent phosphorylation of substrate kinases
            SGK1 and Akt
  JOURNAL   J Biol Chem 298 (9), 102288 (2022)
   PUBMED   35926713
  REMARK    GeneRIF: Interactions between mTORC2 core subunits Rictor and mSin1
            dictate selective and context-dependent phosphorylation of substrate
            kinases SGK1 and Akt.
REFERENCE   2  (bases 1 to 3369)
  AUTHORS   Castel P, Dharmaiah S, Sale MJ, Messing S, Rizzuto G, Cuevas-Navarro
            A, Cheng A, Trnka MJ, Urisman A, Esposito D, Simanshu DK and
            McCormick F.
  TITLE     RAS interaction with Sin1 is dispensable for mTORC2 assembly and
            activity
  JOURNAL   Proc Natl Acad Sci U S A 118 (33) (2021)
   PUBMED   34380736
  REMARK    GeneRIF: RAS interaction with Sin1 is dispensable for mTORC2
            assembly and activity.
REFERENCE   3  (bases 1 to 3369)
  AUTHORS   Wrobel L, Siddiqi FH, Hill SM, Son SM, Karabiyik C, Kim H and
            Rubinsztein DC.
  TITLE     mTORC2 Assembly Is Regulated by USP9X-Mediated Deubiquitination of
            RICTOR
  JOURNAL   Cell Rep 33 (13), 108564 (2020)
   PUBMED   33378666
REFERENCE   4  (bases 1 to 3369)
  AUTHORS   Feng G, Cai J, Huang Y, Zhu X, Gong B, Yang Z, Yan C, Hu Z, Yang L
            and Wang Z.
  TITLE     G-Protein-Coupled Estrogen Receptor 1 Promotes Gender Disparities in
            Hepatocellular Carcinoma via Modulation of SIN1 and mTOR Complex 2
            Activity
  JOURNAL   Mol Cancer Res 18 (12), 1863-1875 (2020)
   PUBMED   32873626
  REMARK    GeneRIF: G-Protein-Coupled Estrogen Receptor 1 Promotes Gender
            Disparities in Hepatocellular Carcinoma via Modulation of SIN1 and
            mTOR Complex 2 Activity.
REFERENCE   5  (bases 1 to 3369)
  AUTHORS   Huang Y, Feng G, Cai J, Peng Q, Yang Z, Yan C, Yang L and Wang Z.
  TITLE     Sin1 promotes proliferation and invasion of prostate cancer cells by
            modulating mTORC2-AKT and AR signaling cascades
  JOURNAL   Life Sci 248, 117449 (2020)
   PUBMED   32088212
  REMARK    GeneRIF: Sin1 promotes proliferation and invasion of prostate cancer
            cells by modulating mTORC2-AKT and androgen receptor signaling
            cascades.
REFERENCE   6  (bases 1 to 3369)
  AUTHORS   Sarbassov DD, Guertin DA, Ali SM and Sabatini DM.
  TITLE     Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complex
  JOURNAL   Science 307 (5712), 1098-1101 (2005)
   PUBMED   15718470
REFERENCE   7  (bases 1 to 3369)
  AUTHORS   Schroder W, Cloonan N, Bushell G and Sculley T.
  TITLE     Alternative polyadenylation and splicing of mRNAs transcribed from
            the human Sin1 gene
  JOURNAL   Gene 339, 17-23 (2004)
   PUBMED   15363842
  REMARK    GeneRIF: Results demonstrate that Sin1 transcripts can use
            alternative polyadenylation signals and describe a number of Sin1
            splice variants that potentially encode functionally different
            isoforms.
REFERENCE   8  (bases 1 to 3369)
  AUTHORS   Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S,
            Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett
            JR, Langeberg LK, Scott JD and Pawson T.
  TITLE     Proteomic, functional, and domain-based analysis of in vivo 14-3-3
            binding proteins involved in cytoskeletal regulation and cellular
            organization
  JOURNAL   Curr Biol 14 (16), 1436-1450 (2004)
   PUBMED   15324660
REFERENCE   9  (bases 1 to 3369)
  AUTHORS   Sarbassov DD, Ali SM, Kim DH, Guertin DA, Latek RR,
            Erdjument-Bromage H, Tempst P and Sabatini DM.
  TITLE     Rictor, a novel binding partner of mTOR, defines a
            rapamycin-insensitive and raptor-independent pathway that regulates
            the cytoskeleton
  JOURNAL   Curr Biol 14 (14), 1296-1302 (2004)
   PUBMED   15268862
REFERENCE   10  (bases 1 to 3369)
  AUTHORS   Colicelli J, Nicolette C, Birchmeier C, Rodgers L, Riggs M and
            Wigler M.
  TITLE     Expression of three mammalian cDNAs that interfere with RAS function
            in Saccharomyces cerevisiae
  JOURNAL   Proc Natl Acad Sci U S A 88 (7), 2913-2917 (1991)
   PUBMED   1849280
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY524429.1, SRR11853559.32578.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000265960.8/ ENSP00000265960.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL358074.22, AL162584.9 and
            AL359632.9.
            On Aug 31, 2019 this sequence version replaced NM_001006617.2.
            Summary: This gene encodes a protein that is highly similar to the
            yeast SIN1 protein, a stress-activated protein kinase.
            Alternatively spliced transcript variants encoding distinct
            isoforms have been described. Alternate polyadenylation sites as
            well as alternate 3' UTRs have been identified for transcripts of
            this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant:  This variant (1), also known as Sin1 and
            Mip1b, represents the longest transcript and encodes the longest
            isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3369
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.3"
     gene            1..3369
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
                     /note="MAPK associated protein 1"
                     /db_xref="GeneID:79109"
                     /db_xref="HGNC:HGNC:18752"
                     /db_xref="MIM:610558"
     misc_feature    239..566
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
                     /note="exon missing in transcript variants 4 and 5"
     misc_feature    284..286
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
                     /note="upstream in-frame stop codon"
     CDS             308..1876
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
                     /note="isoform 1 is encoded by transcript variant 1; ras
                     inhibitor MGC2745; stress-activated protein
                     kinase-interacting 1; stress-activated map kinase
                     interacting protein 1; mitogen-activated protein kinase
                     associated protein 1; target of rapamycin complex 2 subunit
                     MAPKAP1; MEKK2-interacting protein 1; SAPK-interacting
                     protein 1; mSIN1; TORC2 subunit MAPKAP1; mitogen-activated
                     protein kinase 2-associated protein 1"
                     /codon_start=1
                     /product="target of rapamycin complex 2 subunit MAPKAP1
                     isoform 1"
                     /protein_id="NP_001006618.1"
                     /db_xref="CCDS:CCDS35140.1"
                     /db_xref="GeneID:79109"
                     /db_xref="HGNC:HGNC:18752"
                     /db_xref="MIM:610558"
                     /translation="MAFLDNPTIILAHIRQSHVTSDDTGMCEMVLIDHDVDLEKIHPPS
                     MPGDSGSEIQGSNGETQGYVYAQSVDITSSWDFGIRRRSNTAQRLERLRKERQNQIKCK
                     NIQWKERNSKQSAQELKSLFEKKSLKEKPPISGKQSILSVRLEQCPLQLNNPFNEYSKF
                     DGKGHVGTTATKKIDVYLPLHSSQDRLLPMTVVTMASARVQDLIGLICWQYTSEGREPK
                     LNDNVSAYCLHIAEDDGEVDTDFPPLDSNEPIHKFGFSTLALVEKYSSPGLTSKESLFV
                     RINAAHGFSLIQVDNTKVTMKEILLKAVKRRKGSQKVSGPQYRLEKQSEPNVAVDLDST
                     LESQSAWEFCLVRENSSRADGVFEEDSQIDIATVQDMLSSHHYKSFKVSMIHRLRFTTD
                     VQLGISGDKVEIDPVTNQKASTKFWIKQKPISIDSDLLCACDLAEEKSPSHAIFKLTYL
                     SNHDYKHLYFESDAATVNEIVLKVNYILESRASTARADYFAQKQRKLNRRTSFSFQKEK
                     KSGQQ"
     misc_feature    311..1108
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BPZ7.2);
                     Region: Interaction with NBN.
                     /evidence=ECO:0000269|PubMed:23762398"
     misc_feature    311..859
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BPZ7.2);
                     Region: Interaction with MAP3K2.
                     /evidence=ECO:0000269|PubMed:15988011"
     misc_feature    311..313
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.8;
                     propagated from UniProtKB/Swiss-Prot (Q9BPZ7.2);
                     acetylation site"
     misc_feature    863..865
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BPZ7.2); phosphorylation site"
     misc_feature    1709..1873
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BPZ7.2);
                     Region: Interaction with ATF2.
                     /evidence=ECO:0000269|PubMed:17054722"
     misc_feature    1835..1837
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BPZ7.2); phosphorylation site"
     misc_feature    567..656
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
                     /note="exon missing in transcript variant 5"
     misc_feature    1266..1373
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
                     /note="exon missing in transcript variant 2"
     misc_feature    1374..1514
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
                     /note="exon missing in transcript variant 3"
     regulatory      2271..2276
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
                     /note="hexamer: AATAAA"
     polyA_site      2291
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
                     /note="major polyA site"
     regulatory      3347..3352
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
                     /note="hexamer: AATAAA"
     polyA_site      3369
                     /gene="MAPKAP1"
                     /gene_synonym="JC310; MIP1; SIN1; SIN1b; SIN1g"
ORIGIN
        1 gtcgtgtgcg gctcggggta atagggctgc tgctcggccg gccggcggcg gcgagcagca
       61 ggggcatgag ggctaacccg ggaagcggca gctgagcggg ccgggaggag cgccggtccc
      121 cgtggatccc gagagtgcag agctcggggc aggggccggg aggcgtgggg gagccgggcc
      181 ctcccctcag gaacgtgtcc cggggccgac ccggcccgta gtgtggaagc agcttcaggt
      241 aggtgagctc gtgaaacaat atgaagagga gaaaatagcc ttttaaggaa attggcccac
      301 agaaaggatg gccttcttgg acaatccaac tatcattcta gctcatattc gacagtcaca
      361 tgtgaccagt gatgacacgg gaatgtgtga gatggttctc attgatcatg atgttgacct
      421 agagaagatt catcctcctt caatgcctgg agacagtggg tcagaaattc agggaagcaa
      481 tggtgagact cagggctatg tatatgccca gtcagtcgat attacctcaa gttgggactt
      541 tggtattaga agacgctcaa acacagctca aagattagaa cgactccgaa aagagagaca
      601 aaaccagatc aaatgcaaaa atattcagtg gaaagaaaga aattctaagc aatcagccca
      661 ggagttaaag tcactgtttg aaaaaaaatc tctcaaagag aagcctccaa tttctgggaa
      721 gcagtcgata ttatctgtac gcctagaaca gtgccctctg cagctgaata acccttttaa
      781 cgagtattcc aaatttgatg gcaagggtca tgtaggtaca acagcaacca agaagatcga
      841 tgtctacctc cctctgcact cgagccagga cagactgctg ccaatgaccg tggtgacaat
      901 ggccagcgcc agggtgcagg acctgatcgg gctcatctgc tggcagtata caagcgaagg
      961 acgggagccg aagctcaatg acaatgtcag tgcctactgc ctgcatattg ctgaggatga
     1021 tggggaggtg gacaccgatt tccccccgct ggattccaat gagcccattc ataagtttgg
     1081 cttcagtact ttggccctgg ttgaaaagta ctcatctcct ggtctgacat ccaaagagtc
     1141 actctttgtt cgaataaatg ctgctcatgg attctccctt attcaggtgg acaacacaaa
     1201 ggttaccatg aaggaaatct tactgaaggc agtgaagcga agaaaaggat cccagaaagt
     1261 ttcaggccct cagtaccgcc tggagaagca gagcgagccc aatgtcgccg ttgacctgga
     1321 cagcactttg gagagccaga gcgcatggga gttctgcctg gtccgcgaga acagttcaag
     1381 ggcagacggg gtttttgagg aggattcgca aattgacata gccacagtac aggatatgct
     1441 tagcagccac cattacaagt cattcaaagt cagcatgatc cacagactgc gattcacaac
     1501 cgacgtacag ctaggtatct ctggagacaa agtagagata gaccctgtta cgaatcagaa
     1561 agccagcact aagttttgga ttaagcagaa acccatctca atcgattccg acctgctctg
     1621 tgcctgtgac cttgctgaag agaaaagccc cagtcacgca atatttaaac tcacgtatct
     1681 aagcaatcac gactataaac acctctactt tgaatcggac gctgctaccg tcaatgaaat
     1741 tgtgctcaag gttaactaca tcctggaatc gcgagctagc actgcccggg ctgactactt
     1801 tgctcaaaaa caaagaaaac tgaacagacg tacgagcttc agcttccaga aggagaagaa
     1861 atccgggcag cagtgacact ggcctccagc ctcaatctgt tccgtagctc agagcctgcc
     1921 tgccagggcc aagtgcccta gagtccaccc ggtgtcctga agtcctcggg gggaggccag
     1981 cccctggctc actggcacag ggcaggtggg ctctcgggga aggtgtcggg ggccccctag
     2041 gagggagcgc tggggacatt gccatgggac ggaagtctgc ttggcagtgg ctttgataag
     2101 cgatgcttgg gggtcagacc accccctaga ggagccacgt gccgcccagc caccttcaat
     2161 gcctgccacc ctgcccgagg atgtacagag ccgtgcccac acatttcctt gcaacttgat
     2221 caaatttctt aaagcaaaca acaaaaatgt acatttctgt ttttcctttt aataaacagg
     2281 tgtactcttt atcatggttg gtatgatgga ccattctttg gggcggagga ttgattatgt
     2341 tactctcttt aaaatctgtt cccatattga acaggcagat tggaaaagct atggttcgat
     2401 ttctcagaag aaatgtttag gtcttagtca atagttttaa ctatgccatt tgtttaaatg
     2461 agtgcatttg cttcgagggt agtgtcttac taaaagttag gaacagagac ctagtggtgt
     2521 gtccaaggcc gtgtcacttt ccccttcagc acaccccagc ttctgacctc agagcccagg
     2581 agctgcgtgg acagtgtggg gtgccaggag gaggggcggt ggctggtcct caggcacgct
     2641 gcactcccag ccagacatgg tctttccgtt tcttaagtag caagtgtagg tttcagctgg
     2701 cagttccacc tgcatgttct ctgcttcgct gccttggaag gggccacatt ccccattcct
     2761 cttctcctta cagcgcctgc ctcctttttc aagcaggcgg aaagctgctg tttctcacgt
     2821 ttcagggaga ggggtgagcg gagggagacc tgtgtccgtg ccgtccggct ccctgggtgg
     2881 gaacaggcaa gggatcagat gcccctgaca ccacgcctct ggccacacca gatgcctctg
     2941 cagtcctcga cagcctcttc agtgtccctc ctgcggtgat gtccttactg tccccagcca
     3001 gggccgggga ccggtgtttc actgaggacc tgcattagaa acatttttta aattgttgta
     3061 caggaagaga tgtgtctaaa acagcatctt aaagctgagt gtatttcttt gcacaagggg
     3121 tcatgctgat gaattcttct ttcattctga tctttgttca gccaacagga gcgtcctttt
     3181 ctaatgtctt ccattcctac cccccaccca aaaacaaaag aaatatttgt agcttgctat
     3241 ctgtatttga atttttagca attttatatt tagatacttt gaaaaatgta aatgactaat
     3301 ttggtcatta aatcttgtga catattcgat attaaaatga tattaaaata aaagtcatat
     3361 aaatacaca
//
LOCUS       NM_001006630            5971 bp    mRNA    linear   PRI 19-FEB-2023
DEFINITION  Homo sapiens cholinergic receptor muscarinic 2 (CHRM2), transcript
            variant 1, mRNA.
ACCESSION   NM_001006630
VERSION     NM_001006630.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5971)
  AUTHORS   Refisch A, Komatsuzaki S, Ungelenk M, Chung HY, Schumann A,
            Schilling SS, Jantzen W, Schroder S, Muhleisen TW, Nothen MM, Hubner
            CA and Bar KJ.
  TITLE     Associations of common genetic risk variants of the muscarinic
            acetylcholine receptor M2 with cardiac autonomic dysfunction in
            patients with schizophrenia
  JOURNAL   World J Biol Psychiatry 24 (1), 1-11 (2023)
   PUBMED   35172679
REFERENCE   2  (bases 1 to 5971)
  AUTHORS   Kim M, Hong S, Yankeelov TE, Yeh HC and Liu YL.
  TITLE     Deep learning-based classification of breast cancer cells using
            transmembrane receptor dynamics
  JOURNAL   Bioinformatics 38 (1), 243-249 (2021)
   PUBMED   34390568
  REMARK    GeneRIF: Deep learning-based classification of breast cancer cells
            using transmembrane receptor dynamics.
REFERENCE   3  (bases 1 to 5971)
  AUTHORS   Katayama K, Suzuki K, Suno R, Kise R, Tsujimoto H, Iwata S, Inoue A,
            Kobayashi T and Kandori H.
  TITLE     Vibrational spectroscopy analysis of ligand efficacy in human M2
            muscarinic acetylcholine receptor (M2R)
  JOURNAL   Commun Biol 4 (1), 1321 (2021)
   PUBMED   34815515
  REMARK    GeneRIF: Vibrational spectroscopy analysis of ligand efficacy in
            human M2 muscarinic acetylcholine receptor (M2R). Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 5971)
  AUTHORS   Di Bari M, Tombolillo V, Alessandrini F, Guerriero C, Fiore M,
            Asteriti IA, Castigli E, Sciaccaluga M, Guarguaglini G, Degrassi F
            and Tata AM.
  TITLE     M2 Muscarinic Receptor Activation Impairs Mitotic Progression and
            Bipolar Mitotic Spindle Formation in Human Glioblastoma Cell Lines
  JOURNAL   Cells 10 (7), 1727 (2021)
   PUBMED   34359896
  REMARK    GeneRIF: M2 Muscarinic Receptor Activation Impairs Mitotic
            Progression and Bipolar Mitotic Spindle Formation in Human
            Glioblastoma Cell Lines. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5971)
  AUTHORS   Luo L, Zhang G, Mao L, Wang P, Xi C, Shi G and Leavenworth JW.
  TITLE     Group II muscarinic acetylcholine receptors attenuate hepatic injury
            via Nrf2/ARE pathway
  JOURNAL   Toxicol Appl Pharmacol 395, 114978 (2020)
   PUBMED   32234387
  REMARK    GeneRIF: Group II muscarinic acetylcholine receptors attenuate
            hepatic injury via Nrf2/ARE pathway.
REFERENCE   6  (bases 1 to 5971)
  AUTHORS   van Koppen CJ and Nathanson NM.
  TITLE     Site-directed mutagenesis of the m2 muscarinic acetylcholine
            receptor. Analysis of the role of N-glycosylation in receptor
            expression and function
  JOURNAL   J Biol Chem 265 (34), 20887-20892 (1990)
   PUBMED   2249995
REFERENCE   7  (bases 1 to 5971)
  AUTHORS   Goyal RK.
  TITLE     Muscarinic receptor subtypes. Physiology and clinical implications
  JOURNAL   N Engl J Med 321 (15), 1022-1029 (1989)
   PUBMED   2674717
  REMARK    Review article
REFERENCE   8  (bases 1 to 5971)
  AUTHORS   Ashkenazi A, Ramachandran J and Capon DJ.
  TITLE     Acetylcholine analogue stimulates DNA synthesis in brain-derived
            cells via specific muscarinic receptor subtypes
  JOURNAL   Nature 340 (6229), 146-150 (1989)
   PUBMED   2739737
REFERENCE   9  (bases 1 to 5971)
  AUTHORS   Peralta EG, Ashkenazi A, Winslow JW, Smith DH, Ramachandran J and
            Capon DJ.
  TITLE     Distinct primary structures, ligand-binding properties and
            tissue-specific expression of four human muscarinic acetylcholine
            receptors
  JOURNAL   EMBO J 6 (13), 3923-3929 (1987)
   PUBMED   3443095
REFERENCE   10  (bases 1 to 5971)
  AUTHORS   Bonner,T.I., Buckley,N.J., Young,A.C. and Brann,M.R.
  TITLE     Identification of a family of muscarinic acetylcholine receptor
            genes
  JOURNAL   Science 237 (4814), 527-532 (1987)
   PUBMED   3037705
  REMARK    Erratum:[Science 1987 Sep 25;237(4822):237]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.34441.1, AY034603.2
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144335,
            SAMEA2146982 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000680005.1/ ENSP00000505686.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009264.6, AC020581.10 and
            KF458615.1.
            On Mar 17, 2020 this sequence version replaced NM_001006630.1.
            Summary: The muscarinic cholinergic receptors belong to a larger
            family of G protein-coupled receptors. The functional diversity of
            these receptors is defined by the binding of acetylcholine to these
            receptors and includes cellular responses such as adenylate cyclase
            inhibition, phosphoinositide degeneration, and potassium channel
            mediation. Muscarinic receptors influence many effects of
            acetylcholine in the central and peripheral nervous system. The
            muscarinic cholinergic receptor 2 is involved in mediation of
            bradycardia and a decrease in cardiac contractility. Multiple
            alternatively spliced transcript variants have been described for
            this gene. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..5971
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q33"
     gene            1..5971
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="cholinergic receptor muscarinic 2"
                     /db_xref="GeneID:1129"
                     /db_xref="HGNC:HGNC:1951"
                     /db_xref="MIM:118493"
     misc_feature    576..578
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="upstream in-frame stop codon"
     CDS             624..2024
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="muscarinic M2 receptor; 7TM receptor; acetylcholine
                     receptor, muscarinic 2"
                     /codon_start=1
                     /product="muscarinic acetylcholine receptor M2"
                     /protein_id="NP_001006631.1"
                     /db_xref="CCDS:CCDS5843.1"
                     /db_xref="GeneID:1129"
                     /db_xref="HGNC:HGNC:1951"
                     /db_xref="MIM:118493"
                     /translation="MNNSTNSSNNSLALTSPYKTFEVVFIVLVAGSLSLVTIIGNILVM
                     VSIKVNRHLQTVNNYFLFSLACADLIIGVFSMNLYTLYTVIGYWPLGPVVCDLWLALDY
                     VVSNASVMNLLIISFDRYFCVTKPLTYPVKRTTKMAGMMIAAAWVLSFILWAPAILFWQ
                     FIVGVRTVEDGECYIQFFSNAAVTFGTAIAAFYLPVIIMTVLYWHISRASKSRIKKDKK
                     EPVANQDPVSPSLVQGRIVKPNNNNMPSSDDGLEHNKIQNGKAPRDPVTENCVQGEEKE
                     SSNDSTSVSAVASNMRDDEITQDENTVSTSLGHSKDENSKQTCIRIGTKTPKSDSCTPT
                     NTTVEVVGSSGQNGDEKQNIVARKIVKMTKQPAKKKPPPSREKKVTRTILAILLAFIIT
                     WAPYNVMVLINTFCAPCIPNTVWTIGYWLCYINSTINPACYALCNATFKKTFKHLLMCH
                     YKNIGATR"
     misc_feature    627..629
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08172.1); glycosylation site"
     misc_feature    630..632
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08172.1); glycosylation site"
     misc_feature    639..641
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08172.1); glycosylation site"
     misc_feature    648..650
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P08172.1); glycosylation site"
     misc_feature    690..758
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1);
                     transmembrane region"
     misc_feature    801..863
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1);
                     transmembrane region"
     misc_feature    915..980
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1);
                     transmembrane region"
     misc_feature    981..989
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1);
                     Region: Important for signaling"
     misc_feature    1041..1109
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1);
                     transmembrane region"
     misc_feature    1176..1250
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1);
                     transmembrane region"
     misc_feature    1275..1688
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1317..1319
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ERZ4; propagated from
                     UniProtKB/Swiss-Prot (P08172.1); phosphorylation site"
     misc_feature    1785..1853
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1);
                     transmembrane region"
     misc_feature    1878..1949
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1);
                     transmembrane region"
     misc_feature    1929..1943
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P08172.1);
                     Region: Important for signaling"
     misc_feature    1959..1961
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="Phosphothreonine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P08172.1); phosphorylation site"
     misc_feature    1971..1973
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="Phosphothreonine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P08172.1); phosphorylation site"
     misc_feature    2016..2018
                     /gene="CHRM2"
                     /gene_synonym="HM2"
                     /note="Phosphothreonine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P08172.1); phosphorylation site"
ORIGIN
        1 attgcagcta atcgaacaca cacgcacgaa tacagacacg ctctcctgct gtactaaagg
       61 cgccagggcg caaagaccta gggagcgcgc gcgggcacac acacacacac acacacacac
      121 acagacacac acacactcac acactccagg ctgcgggttg gccagagcct ggaaatcgca
      181 gatttcacca ggaaatcgcc gaggtacccg aataggtgtt gcctcccaaa actaattcct
      241 acttccccaa gcactttggt gaagaaatga atccagccca gctcgccgag gcatccaggt
      301 ctccattcta ttttggtctc caggctcttc gtgaaagcca gatcaaggga gaaagagaac
      361 cggcagctgg cctcggactc taagcggtgc gcagctccag cccgagcgga tcggccctga
      421 acccacaaag gactcctcgc tccttcaagc ctccaccacc tcgcagccgg ggaggcaact
      481 ggagcgaaac cagcgacagg ttgttagcga catgagtaca gggtctggat cttacccatt
      541 caagagtgta ttctcagcac ccaatgcctg gcatatagtt taaatgttta tttgctactt
      601 ggctactgat tagagaacgc aaaatgaata actcaacaaa ctcctctaac aatagcctgg
      661 ctcttacaag tccttataag acatttgaag tggtgtttat tgtcctggtg gctggatccc
      721 tcagtttggt gaccattatc gggaacatcc tagtcatggt ttccattaaa gtcaaccgcc
      781 acctccagac cgtcaacaat tactttttat tcagcttggc ctgtgctgac cttatcatag
      841 gtgttttctc catgaacttg tacaccctct acactgtgat tggttactgg cctttgggac
      901 ctgtggtgtg tgacctttgg ctagccctgg actatgtggt cagcaatgcc tcagttatga
      961 atctgctcat catcagcttt gacaggtact tctgtgtcac aaaacctctg acctacccag
     1021 tcaagcggac cacaaaaatg gcaggtatga tgattgcagc tgcctgggtc ctctctttca
     1081 tcctctgggc tccagccatt ctcttctggc agttcattgt aggggtgaga actgtggagg
     1141 atggggagtg ctacattcag tttttttcca atgctgctgt cacctttggt acggctattg
     1201 cagccttcta tttgccagtg atcatcatga ctgtgctata ttggcacata tcccgagcca
     1261 gcaagagcag gataaagaag gacaagaagg agcctgttgc caaccaagac cccgtttctc
     1321 caagtctggt acaaggaagg atagtgaagc caaacaataa caacatgccc agcagtgacg
     1381 atggcctgga gcacaacaaa atccagaatg gcaaagcccc cagggatcct gtgactgaaa
     1441 actgtgttca gggagaggag aaggagagct ccaatgactc cacctcagtc agtgctgttg
     1501 cctctaatat gagagatgat gaaataaccc aggatgaaaa cacagtttcc acttccctgg
     1561 gccattccaa agatgagaac tctaagcaaa catgcatcag aattggcacc aagaccccaa
     1621 aaagtgactc atgtacccca actaatacca ccgtggaggt agtggggtct tcaggtcaga
     1681 atggagatga aaagcagaat attgtagccc gcaagattgt gaagatgact aagcagcctg
     1741 caaaaaagaa gcctcctcct tcccgggaaa agaaagtcac caggacaatc ttggctattc
     1801 tgttggcttt catcatcact tgggccccat acaatgtcat ggtgctcatt aacacctttt
     1861 gtgcaccttg catccccaac actgtgtgga caattggtta ctggctttgt tacatcaaca
     1921 gcactatcaa ccctgcctgc tatgcacttt gcaatgccac cttcaagaag acctttaaac
     1981 accttctcat gtgtcattat aagaacatag gcgctacaag gtaaaatatc tttgaaaaag
     2041 atagaaggtg ggcaagggga gcttgagaag aataaaaggg ataaacgagc tcctagtttt
     2101 aaaatctctg ccattgcact ttatagtctg attacaaaac gtgcaattca ggagcccagc
     2161 agtgacacac ttatcacgcc taggctccag tttgcaaaaa ttgcacctta taaactgtca
     2221 gtattaggag caatgagaca atgaaagaaa catgttggga tcgtggattt aagaaactat
     2281 acactgtttc tcataatctc ttgaagaagg gcttctgatt ctacaatttt atcagtctct
     2341 gcacaagagg aataaccttg ttcctttttt gttacttttg ttgttgttgt tctcatgtgt
     2401 ccttaagaga aggaaatgcc acagttacaa ggtaaacatg gagacttaaa cataaagaaa
     2461 taggcactat acaatgggga cataaaaaaa gaaaatcaaa gaaggatgca gaaattgtct
     2521 ccggagtgtt aagcatattt tattcttttg ttacggtcct atttagagga ttggaatgta
     2581 ataaatgctt attttttgcc tttctttttc ccaccatgaa gagaaagcaa acaaacagaa
     2641 accccaacta ggtcacacca tttttcttct tgttatgcca ctattttgta catccctgtt
     2701 ctatattgtt tatagggaaa acctacagga ctttcactaa agctagccag agacagccat
     2761 gaaaatggac gtttcacccc tcctcactgt gtcctttgca ttcgttgggg atatcaaggt
     2821 ctataaggat ttagtgcact tataatccta tatgcgaaat gtttaaacca atctgatttt
     2881 ctcctaaata gccttttata tcaacagaat atcctaccta aaacataaac ctgtttaaga
     2941 aaccatcgtc actgtaaagt tgaggtttca tcaaattaaa taatggacta tctagttgga
     3001 ccaagtttat taaagtcagg tgaattttaa gattaaaaaa tagaagttta ggactttcta
     3061 tttcaacctg aatttgcctg acccatgtat gaaatgttaa cttatagaaa atgaactcct
     3121 gactttctca gcagaaagga atgctgtttt atttatttgg aatcctaaac aggattaaca
     3181 tactcacata gcaccagtga tttctgggcc agtccctaga gaatagaacc ttctatccaa
     3241 tgcctgctaa aggatgatat tcaaattata accaagtgag gatgtctgca attatcctat
     3301 gaccccatga aaggggaaaa aacgatattt taaaaactat tactgaaaca attacatatt
     3361 ccatattcct caaattgtca attctcccta acattattta acttcaaaat tctcttatca
     3421 atagaattat agtaatcttt gtgacagaaa tgtagtggct aactaaatag aggccaaacg
     3481 agcttacaga atctgacaga aggaggtagg tggctgttgc catgccacat ctcaccatct
     3541 aattctagac cataataatc atgtcaggaa ctattatcta agtggtggca ttatatagaa
     3601 tcttgccacg tagagatttt ttatttggtc gtctaaataa atataggatt aggattatac
     3661 ggattcacat acaactagtt atttttatcc tttatatttt tcttacagta tttgctgtag
     3721 ttttccaatg agattttcta aaaatggctc aatcaatgga aatcaaatta taaacgcatt
     3781 tgcaaatttc atattttgga ttttagattt atgatatctt gttcagtaat aataatgtta
     3841 gttacatggt aaatttatca atattagacc ccagcactta aaagaattat tttgtatgat
     3901 tagcctcata gatgccacct caacattttg gagagttaag gaggaaaaaa agcatgaggg
     3961 aaaaaaaaaa ccaaaaaact tataagttag taagaagcaa attgccagca gtatttatat
     4021 ttgacttatc cttcgtaaaa acaatttcct gtttaaataa cttcagtcat taccccccca
     4081 aagtaatctt ccatatttaa agcattcatt tatagagatt cccttaccta cagttacttc
     4141 aacatgcact tttacatttt aaattcatat ttattttcat attgtttctt caaatgaagg
     4201 aatcagttga acggaaataa cgtcaagcca gtgggctcct cgagtttctg aaaaccagag
     4261 aattgactag ccaagtattt ccctttttaa tgtattgtat tattattatg tagatttggc
     4321 ttcagttggg aagaaccctt tggcatccag gattcaggat tcagggtctt tttttgtttg
     4381 ctctaataat ccaacgcacc atgaatcaag cttttagtct ctgctgccat tgtatccttc
     4441 cttttcctcc ctctgttatt gatccttgcc acagccactg caacctcatt gaaagagaaa
     4501 ctgtcacttt aaagaaagaa attgaagata ggctgacacc atggaaacta cgtcaaacag
     4561 ataagaaaaa tggaaggaat actgaaaatg atagatgatt ggagagatat ggagattata
     4621 ttcaaggatt tttattaacc actgctggat ttgtctattt cagtggctct caaacagaga
     4681 caattcccct ctccccgaaa ggggacactt agcaatgtgt aaagacattt ttggttgcca
     4741 cactgggagg aatgctattg gtatctagtg catagaggct gggaatgctg ctaaatagcc
     4801 tataatgctc aggacatttt cccccaaccc ctttaaacaa atattatttg gctcaaaatg
     4861 tcaatagttc caagattgag aaattcttgt ctactttaag ggatttctaa agcttgcctc
     4921 ttattagtgg gaaaataacc ctgcattatt tttagaatat caatgcaaat tcctcacctg
     4981 ttagaaaaag gtaatactca ccaaccatgt atcagaaaaa cttttctcct gagtctggtg
     5041 tatgtgtcag tcacagattg ggaactcagg ccacatctac atatcaaaaa tcaccagact
     5101 atgcatatcg cacatctttt ttccagcatc ttaatgttca attatgattg ccacagatct
     5161 agtcaattga ggttgcagta gttggccatc aaaatatttg cagttgatat gatcagtttc
     5221 tactggagct gcaatttttc ctttcaaaaa atattaagag cctctttcag aaacaatatc
     5281 atttatcttc tttgcattta ctggaaaggt gtatctgtaa ggtctttgtt ttttctctcc
     5341 tcatagcaat aatgtagcta tcccagagtg atattataag aagaggagat taagaatatg
     5401 gaaaaagtct gttcatttct tcgaaacaag aaatgatttt ccttttacca gttcatcatt
     5461 aatttaacgc cagctcccaa gtattagggc agagtaatca atatgagaag ccacaacggg
     5521 taagctttct gatttgaaat gtacaagctg gatgtccaac atactcctgc tctttgttca
     5581 tttgcttttt tgatcctgaa gatctgacat tgggagagat gggaattcaa aatgatggca
     5641 acaattactc agcaatgcag tctgttttta ttttctccta cttagttcat tgacagtttc
     5701 ctcctcgccc cagtttgata atatcccttt caacaaccat agtaccggtg ttgcaaatag
     5761 tttaggaaag cacccaaagc tggatgaaat tgtgcaaagt gtattctcag catgtatatt
     5821 caataccatg cctcttaaaa atgcttctct taaagggtgc acgctgtagc atgaaatgtg
     5881 tgcatattta atgtatcttc ctggaatatg ctatgtgcta aatatatata tattctataa
     5941 ataaaataat aaaatgtaca atagaaatac a
//
LOCUS       NM_001006634            3495 bp    mRNA    linear   PRI 05-JUL-2023
DEFINITION  Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript
            variant 1, mRNA.
ACCESSION   NM_001006634
VERSION     NM_001006634.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3495)
  AUTHORS   Kreider-Letterman G, Castillo A, Mahlandt EK, Goedhart J, Rabino A,
            Goicoechea S and Garcia-Mata R.
  TITLE     ARHGAP17 regulates the spatiotemporal activity of Cdc42 at
            invadopodia
  JOURNAL   J Cell Biol 222 (2) (2023)
   PUBMED   36571786
  REMARK    GeneRIF: ARHGAP17 regulates the spatiotemporal activity of Cdc42 at
            invadopodia.
REFERENCE   2  (bases 1 to 3495)
  AUTHORS   Pan SL, Deng YY, Fu J, Zhang YH, Zhang ZJ and Qin XJ.
  TITLE     ARHGAP17 enhances 5-Fluorouracil-induced apoptosis in colon cancer
            cells by suppressing Rac1
  JOURNAL   Neoplasma 69 (3), 640-647 (2022)
   PUBMED   35293764
  REMARK    GeneRIF: ARHGAP17 enhances 5-Fluorouracil-induced apoptosis in colon
            cancer cells by suppressing Rac1.
REFERENCE   3  (bases 1 to 3495)
  AUTHORS   Wang L, Yang X, Wan L, Wang S, Pan J and Liu Y.
  TITLE     ARHGAP17 inhibits pathological cyclic strain-induced apoptosis in
            human periodontal ligament fibroblasts via Rac1/Cdc42
  JOURNAL   Clin Exp Pharmacol Physiol 47 (9), 1591-1599 (2020)
   PUBMED   32391922
  REMARK    GeneRIF: ARHGAP17 inhibits pathological cyclic strain-induced
            apoptosis in human periodontal ligament fibroblasts via Rac1/Cdc42.
REFERENCE   4  (bases 1 to 3495)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 3495)
  AUTHORS   Guo Q, Xiong Y, Song Y, Hua K and Gao S.
  TITLE     ARHGAP17 suppresses tumor progression and up-regulates P21 and P27
            expression via inhibiting PI3K/AKT signaling pathway in cervical
            cancer
  JOURNAL   Gene 692, 9-16 (2019)
   PUBMED   30641218
  REMARK    GeneRIF: ARHGAP17 functions as a tumor suppressor in cervical cancer
            that suppresses tumor growth, at least partly, through inhibition of
            PI3K/AKT signaling and up-regulation of P21 and P27 expression.
REFERENCE   6  (bases 1 to 3495)
  AUTHORS   Yi C, Troutman S, Fera D, Stemmer-Rachamimov A, Avila JL, Christian
            N, Persson NL, Shimono A, Speicher DW, Marmorstein R, Holmgren L and
            Kissil JL.
  TITLE     A tight junction-associated Merlin-angiomotin complex mediates
            Merlin's regulation of mitogenic signaling and tumor suppressive
            functions
  JOURNAL   Cancer Cell 19 (4), 527-540 (2011)
   PUBMED   21481793
REFERENCE   7  (bases 1 to 3495)
  AUTHORS   Wells CD, Fawcett JP, Traweger A, Yamanaka Y, Goudreault M, Elder K,
            Kulkarni S, Gish G, Virag C, Lim C, Colwill K, Starostine A,
            Metalnikov P and Pawson T.
  TITLE     A Rich1/Amot complex regulates the Cdc42 GTPase and apical-polarity
            proteins in epithelial cells
  JOURNAL   Cell 125 (3), 535-548 (2006)
   PUBMED   16678097
  REMARK    GeneRIF: We propose that Rich1 and Amot maintain TJ integrity by the
            coordinate regulation of Cdc42 and by linking specific components of
            the TJ to intracellular protein trafficking.
REFERENCE   8  (bases 1 to 3495)
  AUTHORS   Richnau N and Aspenstrom P.
  TITLE     Rich, a rho GTPase-activating protein domain-containing protein
            involved in signaling by Cdc42 and Rac1
  JOURNAL   J Biol Chem 276 (37), 35060-35070 (2001)
   PUBMED   11431473
REFERENCE   9  (bases 1 to 3495)
  AUTHORS   Reczek D and Bretscher A.
  TITLE     Identification of EPI64, a TBC/rabGAP domain-containing microvillar
            protein that binds to the first PDZ domain of EBP50 and E3KARP
  JOURNAL   J Cell Biol 153 (1), 191-206 (2001)
   PUBMED   11285285
REFERENCE   10  (bases 1 to 3495)
  AUTHORS   Harada A, Furuta B, Takeuchi K, Itakura M, Takahashi M and Umeda M.
  TITLE     Nadrin, a novel neuron-specific GTPase-activating protein involved
            in regulated exocytosis
  JOURNAL   J Biol Chem 275 (47), 36885-36891 (2000)
   PUBMED   10967100
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC080195.1, AK291691.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000289968.11/ ENSP00000289968.6
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BU187683.1 and BC080195.1.
            On Nov 22, 2018 this sequence version replaced NM_001006634.2.
            Summary: RICH1 is a GTPase-activating protein (GAP). GAPs stimulate
            the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM
            165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by
            OMIM, Apr 2004].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3495
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.1"
     gene            1..3495
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="Rho GTPase activating protein 17"
                     /db_xref="GeneID:55114"
                     /db_xref="HGNC:HGNC:18239"
                     /db_xref="MIM:608293"
     misc_feature    43..45
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="upstream in-frame stop codon"
     CDS             109..2754
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="isoform 1 is encoded by transcript variant 1; RhoGAP
                     interacting with CIP4 homologs 1; neuron-associated
                     developmentally regulated protein; rho-type
                     GTPase-activating protein 17"
                     /codon_start=1
                     /product="rho GTPase-activating protein 17 isoform 1"
                     /protein_id="NP_001006635.1"
                     /db_xref="CCDS:CCDS32409.1"
                     /db_xref="GeneID:55114"
                     /db_xref="HGNC:HGNC:18239"
                     /db_xref="MIM:608293"
                     /translation="MKKQFNRMKQLANQTVGRAEKTEVLSEDLLQIERRLDTVRSICHH
                     SHKRLVACFQGQHGTDAERRHKKLPLTALAQNMQEASTQLEDSLLGKMLETCGDAENQL
                     ALELSQHEVFVEKEIVDPLYGIAEVEIPNIQKQRKQLARLVLDWDSVRARWNQAHKSSG
                     TNFQGLPSKIDTLKEEMDEAGNKVEQCKDQLAADMYNFMAKEGEYGKFFVTLLEAQADY
                     HRKALAVLEKTLPEMRAHQDKWAEKPAFGTPLEEHLKRSGREIALPIEACVMLLLETGM
                     KEEGLFRIGAGASKLKKLKAALDCSTSHLDEFYSDPHAVAGALKSYLRELPEPLMTFNL
                     YEEWTQVASVQDQDKKLQDLWRTCQKLPPQNFVNFRYLIKFLAKLAQTSDVNKMTPSNI
                     AIVLGPNLLWARNEGTLAEMAAATSVHVVAVIEPIIQHADWFFPEEVEFNVSEAFVPLT
                     TPSSNHSFHTGNDSDSGTLERKRPASMAVMEGDLVKKESFGVKLMDFQAHRRGGTLNRK
                     HISPAFQPPLPPTDGSTVVPAGPEPPPQSSRAESSSGGGTVPSSAGILEQGPSPGDGSP
                     PKPKDPVSAAVPAPGRNNSQIASGQNQPQAAAGSHQLSMGQPHNAAGPSPHTLRRAVKK
                     PAPAPPKPGNPPPGHPGGQSSSGTSQHPPSLSPKPPTRSPSPPTQHTGQPPGQPSAPSQ
                     LSAPRRYSSSLSPIQAPNHPPPQPPTQATPLMHTKPNSQGPPNPMALPSEHGLEQPSHT
                     PPQTPTPPSTPPLGKQNPSLPAPQTLAGGNPETAQPHAGTLPRPRPVPKPRNRPSVPPP
                     PQPPGVHSAGDSSLTNTAPTASKIVTDSNSRVSEPHRSIFPEMHSDSASKDVPGRILLD
                     IDNDTESTAL"
     misc_feature    1483..1554
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68EM7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1558..1560
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q68EM7.1); phosphorylation site"
     misc_feature    1639..2751
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68EM7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1831..1833
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q68EM7.1); phosphorylation site"
     misc_feature    2143..2145
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q68EM7.1); phosphorylation site"
     misc_feature    2152..2154
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q68EM7.1); phosphorylation site"
     misc_feature    2212..2214
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UIA2; propagated from
                     UniProtKB/Swiss-Prot (Q68EM7.1); phosphorylation site"
     misc_feature    2218..2220
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UIA2; propagated from
                     UniProtKB/Swiss-Prot (Q68EM7.1); phosphorylation site"
     misc_feature    2365..2406
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68EM7.1);
                     Region: SH3-binding. /evidence=ECO:0000255"
     misc_feature    2365..2367
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q3UIA2; propagated from
                     UniProtKB/Swiss-Prot (Q68EM7.1); phosphorylation site"
     misc_feature    2377..2379
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q3UIA2; propagated from
                     UniProtKB/Swiss-Prot (Q68EM7.1); phosphorylation site"
     misc_feature    2383..2385
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q3UIA2; propagated from
                     UniProtKB/Swiss-Prot (Q68EM7.1); phosphorylation site"
     misc_feature    2392..2394
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UIA2; propagated from
                     UniProtKB/Swiss-Prot (Q68EM7.1); phosphorylation site"
     misc_feature    2395..2397
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q3UIA2; propagated from
                     UniProtKB/Swiss-Prot (Q68EM7.1); phosphorylation site"
     regulatory      3466..3471
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="hexamer: ATTAAA"
     regulatory      3470..3475
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="hexamer: AATATA"
     polyA_site      3487
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="major polyA site"
     polyA_site      3495
                     /gene="ARHGAP17"
                     /gene_synonym="MST066; MST110; MSTP038; MSTP066; MSTP110;
                     NADRIN; PP367; PP4534; RICH-1; RICH1; WBP15"
                     /note="major polyA site"
ORIGIN
        1 gagccaccgc cgcgccgccg tttgggccgg gaagcgatgt agtagctgcc aggctgtccc
       61 ccgccctgcc cggcccgagc cccgcgggcc gccgccgcca ccgccgccat gaagaagcag
      121 ttcaaccgca tgaagcagct ggctaaccag accgtgggca gagctgagaa aacagaagtc
      181 cttagtgaag atctattaca gattgagaga cgcctggaca cggtgcggtc aatatgccac
      241 cattcccata agcgcttggt ggcatgtttc cagggccagc atggcaccga tgccgagagg
      301 agacacaaaa aactgcctct gacagctctt gctcaaaata tgcaagaagc atcgactcag
      361 ctggaagact ctctcctggg gaagatgctg gagacgtgtg gagatgctga gaatcagctg
      421 gctctcgagc tctcccagca cgaagtcttt gttgagaagg agatcgtgga ccctctgtac
      481 ggcatagctg aggtggagat tcccaacatc cagaagcaga ggaagcagct tgcaagattg
      541 gtgttagact gggattcagt cagagccagg tggaaccaag ctcacaaatc ctcaggaacc
      601 aactttcagg ggcttccatc aaaaatagat actctaaagg aagagatgga tgaagctgga
      661 aataaagtag aacagtgcaa ggatcaactt gcagcagaca tgtacaactt tatggccaaa
      721 gaaggggagt atggcaaatt ctttgttacg ttattagaag cccaagcaga ttaccataga
      781 aaagcattag cagtcttaga aaagaccctc cccgaaatgc gagcccatca agataagtgg
      841 gcggaaaaac cagcctttgg gactccccta gaagaacacc tgaagaggag cgggcgcgag
      901 attgcgctgc ccattgaagc ctgtgtcatg ctgcttctgg agacaggcat gaaggaggag
      961 ggccttttcc gaattggggc tggggcctcc aagttaaaga agctgaaagc tgctttggac
     1021 tgttctactt ctcacctgga tgagttctat tcagaccccc atgctgtagc aggtgcttta
     1081 aaatcctatt tacgggaatt gcctgaacct ttgatgactt ttaatctgta tgaagaatgg
     1141 acacaagttg caagtgtgca ggatcaagac aaaaaacttc aagacttgtg gagaacatgt
     1201 cagaagttgc caccacaaaa ttttgttaac tttagatatt tgatcaagtt ccttgcaaag
     1261 cttgctcaga ccagcgatgt gaataaaatg actcccagca acattgcgat tgtgttaggc
     1321 cctaacttgt tatgggccag aaatgaagga acacttgctg aaatggcagc agccacatcc
     1381 gtccatgtgg ttgcagtgat tgaacccatc attcagcatg ccgactggtt cttccctgaa
     1441 gaggtggaat ttaatgtatc agaagcattt gtacctctca ccaccccgag ttctaatcac
     1501 tcattccaca ctggaaacga ctctgactcg gggaccctgg agaggaagcg gcctgctagc
     1561 atggcggtga tggaaggaga cttggtgaag aaggaaagct ttggtgtgaa gcttatggac
     1621 ttccaggccc accggcgggg tggcactcta aatagaaagc acatatcccc cgctttccag
     1681 ccgccacttc cgcccacaga tggcagcacc gtggtgcccg ctggcccaga gccccctccc
     1741 cagagctcta gggctgaaag cagctctggg ggtgggactg tcccctcttc cgcgggcata
     1801 ctggagcagg ggccgagccc aggcgacggc agtcctccca aaccgaagga ccctgtatct
     1861 gcagctgtgc cagcaccagg gagaaacaac agtcagatag catctggcca aaatcagccc
     1921 caggcagctg ctggctccca ccagctctcc atgggccaac ctcacaatgc tgcagggccc
     1981 agcccgcata cactgcgccg agctgttaaa aaacccgctc cagcaccccc gaaaccgggc
     2041 aacccacctc ctggccaccc cgggggccag agttcttcag gaacatctca gcatccaccc
     2101 agtctgtcac caaagccacc cacccgaagc ccctctcctc ccacccagca cacgggccag
     2161 cctccaggcc agccctccgc cccctcccag ctctcagcac cccggaggta ctccagcagc
     2221 ttgtctccaa tccaagctcc caatcaccca ccgccgcagc cccctacgca ggccacgcca
     2281 ctgatgcaca ccaaacccaa tagccagggc cctcccaacc ccatggcatt gcccagtgag
     2341 catggacttg agcagccatc tcacacccct ccccagactc caacgccccc cagtactccg
     2401 cccctaggaa aacagaaccc cagtctgcca gctcctcaga ccctggcagg gggtaaccct
     2461 gaaactgcac agccacatgc tggaacctta ccgagaccga gaccagtacc aaagccaagg
     2521 aaccggccca gcgtgccccc acccccccaa cctcctggtg tccactcagc tggggacagc
     2581 agcctcacca acacagcacc aacagcttcc aagatagtaa cagactccaa ttccagggtt
     2641 tcagaaccgc atcgcagcat ctttcctgaa atgcactcag actcagccag caaagacgtg
     2701 cctggccgca tcctgctgga tatagacaat gataccgaga gcactgccct gtgaagaaag
     2761 ccctttccca gccctccacc acttccaccc tggcgagtgg agcaggggca ggcgaacctc
     2821 tttctttgca gaccgaacag tgaaaagctt tcagtggagg acaaaggagg gcctcactgt
     2881 gcgggacctg gccttctgca cggcccaagg agaacctgga ggccaccact aaagctgaat
     2941 gacctgtgtc ttgaagaagt tggctttctt tacatgggaa ggaaatcatg ccaaaaaaat
     3001 ccaaaacaaa gaagtacctg gagtggagag agtattcctg ctgaaacgcg cataggaagc
     3061 ttttgtccct gctgttaatg cgggcagcac ctacagcaac ttggaatgag taagaagcag
     3121 tgcgttaact atctatttaa taaaatgcgc tcattatgca agtcgcctac tctctgctac
     3181 ctggacgttc attcttatgt attaggaggg aggctgcgct ccttcagact tgctgcagaa
     3241 tcattttgta tcatgtatgg tctgtgtctc cccagtcccc tcagaaccat gcccatggat
     3301 ggtgactgct ggctctgtca cctcatcaaa ctggatgtga cccatgccgc ctcgttggat
     3361 tgtcggaatg tagacagaaa tgtactgttc tttttttttt ttttaaacaa tgtaattgct
     3421 acttgataag gaccgaacat tattctagtt tcatgtttaa tttgaattaa atatattctg
     3481 tggtttatat gaaaa
//
LOCUS       NM_001006638            2613 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript
            variant 2, mRNA.
ACCESSION   NM_001006638
VERSION     NM_001006638.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2613)
  AUTHORS   Xin L, Li SH, Liu C, Zeng F, Cao JQ, Zhou LQ, Zhou Q and Yuan YW.
  TITLE     Methionine represses the autophagy of gastric cancer stem cells via
            promoting the methylation and phosphorylation of RAB37
  JOURNAL   Cell Cycle 19 (20), 2644-2652 (2020)
   PUBMED   32926650
  REMARK    GeneRIF: Methionine represses the autophagy of gastric cancer stem
            cells via promoting the methylation and phosphorylation of RAB37.
REFERENCE   2  (bases 1 to 2613)
  AUTHORS   Li Y, Yang X, Du X, Lei Y, He Q, Hong X, Tang X, Wen X, Zhang P, Sun
            Y, Zhang J, Wang Y, Ma J and Liu N.
  TITLE     RAB37 Hypermethylation Regulates Metastasis and Resistance to
            Docetaxel-Based Induction Chemotherapy in Nasopharyngeal Carcinoma
  JOURNAL   Clin Cancer Res 24 (24), 6495-6508 (2018)
   PUBMED   30131385
  REMARK    GeneRIF: This study shows that RAB37 hypermethylation is involved in
            NPC metastasis and chemoresistance, and that our prognostic model
            can identify patients who are at a high risk of distant metastasis
            and might benefit from for docetaxel IC. Erratum:[Clin Cancer Res.
            2022 Jan 15;28(2):430. PMID: 35045963]
REFERENCE   3  (bases 1 to 2613)
  AUTHORS   Wang YS, Tzeng HT, Tsai CH, Cheng HC, Lai WW, Liu HS and Wang YC.
  TITLE     VAMP8, a vesicle-SNARE required for RAB37-mediated exocytosis,
            possesses a tumor metastasis suppressor function
  JOURNAL   Cancer Lett 437, 79-88 (2018)
   PUBMED   30165196
  REMARK    GeneRIF: Findings indicate that patients with low vesicle associated
            membrane protein 8 (VAMP8)/low rab GTP-binding protein RAB37 (RAB37)
            expression profile showed significantly high risk of death even
            after adjusting for tumor metastasis parameter.
REFERENCE   4  (bases 1 to 2613)
  AUTHORS   Tzeng HT, Su CC, Chang CP, Lai WW, Su WC and Wang YC.
  TITLE     Rab37 in lung cancer mediates exocytosis of soluble ST2 and thus
            skews macrophages toward tumor-suppressing phenotype
  JOURNAL   Int J Cancer 143 (7), 1753-1763 (2018)
   PUBMED   29717487
  REMARK    GeneRIF: Low RAB37 expression is associated with lung cancer.
REFERENCE   5  (bases 1 to 2613)
  AUTHORS   Cho SH, Kuo IY, Lu PF, Tzeng HT, Lai WW, Su WC and Wang YC.
  TITLE     Rab37 mediates exocytosis of secreted frizzled-related protein 1 to
            inhibit Wnt signaling and thus suppress lung cancer stemness
  JOURNAL   Cell Death Dis 9 (9), 868 (2018)
   PUBMED   30158579
  REMARK    GeneRIF: Rab37-mediated SFRP1 secretion suppresses cancer stemness.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2613)
  AUTHORS   Wu CY, Tseng RC, Hsu HS, Wang YC and Hsu MT.
  TITLE     Frequent down-regulation of hRAB37 in metastatic tumor by genetic
            and epigenetic mechanisms in lung cancer
  JOURNAL   Lung Cancer 63 (3), 360-367 (2009)
   PUBMED   18687502
  REMARK    GeneRIF: Promoter/exon1 methylation is the predominant mechanism in
            down-regulation of the hRAB37, and can serve as a potential
            prediction biomarker of NSCLC progression.
REFERENCE   7  (bases 1 to 2613)
  AUTHORS   Breuza L, Halbeisen R, Jeno P, Otte S, Barlowe C, Hong W and Hauri
            HP.
  TITLE     Proteomics of endoplasmic reticulum-Golgi intermediate compartment
            (ERGIC) membranes from brefeldin A-treated HepG2 cells identifies
            ERGIC-32, a new cycling protein that interacts with human Erv46
  JOURNAL   J Biol Chem 279 (45), 47242-47253 (2004)
   PUBMED   15308636
REFERENCE   8  (bases 1 to 2613)
  AUTHORS   Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR
            and Vandekerckhove J.
  TITLE     Exploring proteomes and analyzing protein processing by mass
            spectrometric identification of sorted N-terminal peptides
  JOURNAL   Nat Biotechnol 21 (5), 566-569 (2003)
   PUBMED   12665801
REFERENCE   9  (bases 1 to 2613)
  AUTHORS   Fukuda M.
  TITLE     Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2.
            Identification of a critical determinant of Rab3A/Rab27A recognition
            by Rim2
  JOURNAL   J Biol Chem 278 (17), 15373-15380 (2003)
   PUBMED   12578829
REFERENCE   10  (bases 1 to 2613)
  AUTHORS   Masuda ES, Luo Y, Young C, Shen M, Rossi AB, Huang BC, Yu S, Bennett
            MK, Payan DG and Scheller RH.
  TITLE     Rab37 is a novel mast cell specific GTPase localized to secretory
            granules
  JOURNAL   FEBS Lett 470 (1), 61-64 (2000)
   PUBMED   10722846
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.54290.1, AK098068.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000392613.10/ ENSP00000376389.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK098068.1, AC016888.23 and BC016615.1.
            On Nov 23, 2018 this sequence version replaced NM_001006638.2.
            Summary: Rab proteins are low molecular mass GTPases that are
            critical regulators of vesicle trafficking. For additional
            background information on Rab proteins, see MIM 179508.[supplied by
            OMIM, Apr 2006].
            Transcript Variant: This variant (2) represents use of an alternate
            promoter, 5' UTR, and alternate start codon, and includes an
            alternate coding exon, compared to variant 3. The resulting isoform
            (2) has a distinct and longer N-terminus, compared to isoform 3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2613
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..2613
                     /gene="RAB37"
                     /note="RAB37, member RAS oncogene family"
                     /db_xref="GeneID:326624"
                     /db_xref="HGNC:HGNC:30268"
                     /db_xref="MIM:609956"
     CDS             18..689
                     /gene="RAB37"
                     /note="isoform 2 is encoded by transcript variant 2; RAB37,
                     member of RAS oncogene family; ras-related protein Rab-37"
                     /codon_start=1
                     /product="ras-related protein Rab-37 isoform 2"
                     /protein_id="NP_001006639.1"
                     /db_xref="CCDS:CCDS32722.1"
                     /db_xref="GeneID:326624"
                     /db_xref="HGNC:HGNC:30268"
                     /db_xref="MIM:609956"
                     /translation="MTGTPGAVATRDGEAPERSPPCSPSYDLTGKVMLLGDTGVGKTCF
                     LIQFKDGAFLSGTFIATVGIDFRNKVVTVDGVRVKLQIWDTAGQERFRSVTHAYYRDAQ
                     ALLLLYDITNKSSFDNIRAWLTEIHEYAQRDVVIMLLGNKADMSSERVIRSEDGETLAR
                     EYGVPFLETSAKTGMNVELAFLAIAKELKYRAGHQADEPSFQIRDYVESQKKRSSCCSF
                     M"
     misc_feature    18..86
                     /gene="RAB37"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96AX2.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    21..23
                     /gene="RAB37"
                     /note="N-acetylthreonine.
                     /evidence=ECO:0000269|PubMed:12665801; propagated from
                     UniProtKB/Swiss-Prot (Q96AX2.3); acetylation site"
     misc_feature    192..218
                     /gene="RAB37"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96AX2.3);
                     Region: Effector region. /evidence=ECO:0000250"
     misc_feature    675..677
                     /gene="RAB37"
                     /note="Cysteine methyl ester. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (Q96AX2.3);
                     methylation site"
     regulatory      2588..2593
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB37"
                     /note="hexamer: ATTAAA"
     polyA_site      2613
                     /gene="RAB37"
                     /note="major polyA site"
ORIGIN
        1 acctctcgtc cagggacatg acgggcacgc caggcgccgt tgccacccgg gatggcgagg
       61 cccccgagcg ctccccgccc tgcagtccga gctacgacct cacgggcaag gtgatgcttc
      121 tgggagacac aggcgtcggc aaaacatgtt tcctgatcca attcaaagac ggggccttcc
      181 tgtccggaac cttcatagcc accgtcggca tagacttcag gaacaaggtg gtgactgtgg
      241 atggcgtgag agtgaagctg cagatctggg acaccgctgg gcaggaacgg ttccgaagcg
      301 tcacccatgc ttattacaga gatgctcagg ccttgcttct gctgtatgac atcaccaaca
      361 aatcttcttt cgacaacatc agggcctggc tcactgagat tcatgagtat gcccagaggg
      421 acgtggtgat catgctgcta ggcaacaagg cggatatgag cagcgaaaga gtgatccgtt
      481 ccgaagacgg agagaccttg gccagggagt acggtgttcc cttcctggag accagcgcca
      541 agactggcat gaatgtggag ttagcctttc tggccatcgc caaggaactg aaataccggg
      601 ccgggcatca ggcggatgag cccagcttcc agatccgaga ctatgtagag tcccagaaga
      661 agcgctccag ctgctgctcc ttcatgtgaa tcccaggggg cagagaggag gctctggagg
      721 cacacaggat gcagccttcc ccctcccagg cctggcttat tccaagaggc tgagccaatg
      781 gggagaaaga tggaggactc actgcacagc cgcttcctag cagggagcta tactccaact
      841 cctacttgag ttcctgcggt ctccccgcat ccacagggag ggtaaaacac ttagctttta
      901 ttttaatagt acataattta ataccaaaaa aggcgcctgg atccccaaaa aaccgaggct
      961 gggagctagt ggcccttttg ctttctagga cttggggggc cggccctccc tcctaagcat
     1021 aacaaaggtg gtgttgctcc agctcagccc caggggacac agatgcactt tgggggtgag
     1081 ggcaggtaat gactccatcg caccctcagt tcagctggac agaggctcag gtgaccccag
     1141 ccttcactgt ctcccgctct ccaggagctt atcttcgccc catctcccaa ataagtgggc
     1201 ccttgtgctg tgaggaagac caaagcctca gggaagataa gagatatgga gatgggaggg
     1261 ggaggacaag gggcagagag tagggtctag ctggctatct ctggccttac taacaccccc
     1321 ctggaggcat gccccttttc tccagcacac aagcacattg gggcacctgg aaatattggt
     1381 tccaggctcc tgttctctgg acttcagatc ctgggggagc ccctcccccc cctgaatccc
     1441 tggcttagct accttcctgc ctgtgcacct aaaaacctca ggtcagaact aggaaaagag
     1501 ttttgttttt atttttttga aatggagtct cgttctgtcg cccaggctga ggtgcagtag
     1561 tgcaatctcc gctcactaca acctccactc cctggggctc aagcgatcct cccacctcag
     1621 ccgccgaagt agctgggact ataggtgtgt accatcacac ctggctaatt tttgtatttt
     1681 ttgtagacac agggtttcgc catgttgccc aggctggtct tgaattcctg agctcaagca
     1741 acctgccggc ctcggcctcc caaagtactg ggattacacg cagaaggcac catgcccagg
     1801 ctagatgtgt cttatcccaa tcctttggca ggcatgcagc tccacaggcg atttcttcaa
     1861 gcagctgaag tgtttagccc tcctgggtta agagccagat aaggagaaat ccctttccta
     1921 ggtttggaat gtgttgtgaa aaaaaagaga aatccctggc tcctggagct ggtgggagac
     1981 aagattaagc aaacctcccc tgacatgtat ccctttgacc ccaagctctg cctcctccct
     2041 gaccacccat gccctttcct ttaacttctc aaacagatac cagggcctaa actgctttac
     2101 ctcccctcct actgagtcag gttaggtggt gggaggtcac ccatttccga gttaaaccaa
     2161 tgcaatatga gtaaaacaaa gtcatgtggg tatgtctggg gtagagagag gggtagcaag
     2221 ttcatgtgtc ctccttggtc acatatctcc caaagctccg atccctgcca tgggaagtgg
     2281 acaggaaaca tgaggtcatg acctgcaggc atctttactg cagctctgcc ggcctggagg
     2341 gggagagggg gaggaagaag tatgcgctgc acatttctga ggctactgca tttgctttca
     2401 aggcagaaat cttgctctga gcagtcagcg gctccagttt gggcccgata aggaagttct
     2461 ccgtggcctc cctcaggcag agcagggagg aggctgacat tgccagtctc ttctggggcc
     2521 caaggcaggt tgcaggagat ccaatcccat agacagctct gggcctcttg catttgagtt
     2581 tttcagaatt aaactgcagt attttggaaa gca
//
LOCUS       NM_001006657            6931 bp    mRNA    linear   PRI 15-MAR-2023
DEFINITION  Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1,
            mRNA.
ACCESSION   NM_001006657
VERSION     NM_001006657.2
KEYWORDS    RefSeq; MANE Plus Clinical.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6931)
  AUTHORS   Sekiguchi T, Ishii T, Kobayashi H and Furuno N.
  TITLE     WDR35 is involved in subcellular localization of acetylated tubulin
            in 293T cells
  JOURNAL   Biochem Biophys Res Commun 547, 169-175 (2021)
   PUBMED   33610917
  REMARK    GeneRIF: WDR35 is involved in subcellular localization of acetylated
            tubulin in 293T cells.
REFERENCE   2  (bases 1 to 6931)
  AUTHORS   Walczak-Sztulpa J, Wawrocka A, Stanczyk M, Pesz K, Dudarewicz L,
            Chrul S, Bukowska-Olech E, Wieczorek-Cichecka N, Arts HH, Oud MM,
            Smigiel R, Grenda R, Obersztyn E, Chrzanowska KH and Latos-Bielenska
            A.
  TITLE     Interfamilial clinical variability in four Polish families with
            cranioectodermal dysplasia and identical compound heterozygous
            variants in WDR35
  JOURNAL   Am J Med Genet A 185 (4), 1195-1203 (2021)
   PUBMED   33421337
  REMARK    GeneRIF: Interfamilial clinical variability in four Polish families
            with cranioectodermal dysplasia and identical compound heterozygous
            variants in WDR35.
REFERENCE   3  (bases 1 to 6931)
  AUTHORS   Xu Y, Zhuo Y, Ye M, Li M, Tang X and Zhou L.
  TITLE     Association study of genetic variants at TTC32-WDR35 gene cluster
            with coronary artery disease in Chinese Han population
  JOURNAL   J Clin Lab Anal 35 (2), e23594 (2021)
   PUBMED   33009702
  REMARK    GeneRIF: Association study of genetic variants at TTC32-WDR35 gene
            cluster with coronary artery disease in Chinese Han population.
REFERENCE   4  (bases 1 to 6931)
  AUTHORS   Walczak-Sztulpa J, Wawrocka A, Leszczynska B, Mikulska B, Arts HH,
            Bukowska-Olech E, Daniel M, Krawczynski MR, Latos-Bielenska A and
            Obersztyn E.
  TITLE     Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish
            family with compound heterozygous variants in WDR35
  JOURNAL   Am J Med Genet A 182 (10), 2417-2425 (2020)
   PUBMED   32804427
  REMARK    GeneRIF: Prenatal genetic diagnosis of cranioectodermal dysplasia in
            a Polish family with compound heterozygous variants in WDR35.
REFERENCE   5  (bases 1 to 6931)
  AUTHORS   Hu Z, Hong S, Zhang Y, Dai H, Lin S, Yi T and Zhuang H.
  TITLE     Down-regulated WDR35 contributes to fetal anomaly via regulation of
            osteogenic differentiation
  JOURNAL   Gene 697, 48-56 (2019)
   PUBMED   30790652
  REMARK    GeneRIF: Results demonstrated that copy number variation (CNV) of
            WDR35 may lead to skeletal dysplasia and fetal anomaly, and that
            down-regulated WDR35 may damage the cilia formation and sequentially
            indirectly regulate Gli signal, which would eventually result in
            negative regulation of osteogenic differentiation.
REFERENCE   6  (bases 1 to 6931)
  AUTHORS   Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns
            MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, Aftimos S, Delatycki
            MB, Savarirayan R, Jackson IJ and Amor DJ.
  TITLE     Human and mouse mutations in WDR35 cause short-rib polydactyly
            syndromes due to abnormal ciliogenesis
  JOURNAL   Am J Hum Genet 88 (4), 508-515 (2011)
   PUBMED   21473986
  REMARK    GeneRIF: Through structural modeling, we show that WDR35 has strong
            homology to the COPI coatamers involved in vesicular trafficking and
            that short-rib polydactyly mutations affect key structural elements
            in WDR35.
REFERENCE   7  (bases 1 to 6931)
  AUTHORS   Mukhopadhyay S, Wen X, Chih B, Nelson CD, Lane WS, Scales SJ and
            Jackson PK.
  TITLE     TULP3 bridges the IFT-A complex and membrane phosphoinositides to
            promote trafficking of G protein-coupled receptors into primary
            cilia
  JOURNAL   Genes Dev 24 (19), 2180-2193 (2010)
   PUBMED   20889716
REFERENCE   8  (bases 1 to 6931)
  AUTHORS   Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van
            Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV,
            Veltman JA and Brunner HG.
  TITLE     Exome sequencing identifies WDR35 variants involved in Sensenbrenner
            syndrome
  JOURNAL   Am J Hum Genet 87 (3), 418-423 (2010)
   PUBMED   20817137
  REMARK    GeneRIF: WDR35 is homologous to TULP4 (from the Tubby superfamily)
            and has previously been characterized as an intraflagellar transport
            component, confirming that Sensenbrenner syndrome is a ciliary
            disorder.
REFERENCE   9  (bases 1 to 6931)
  AUTHORS   Feng GG, Li C, Huang L, Tsunekawa K, Sato Y, Fujiwara Y, Komatsu T,
            Honda T, Fan JH, Goto H, Koide T, Hasegawa T and Ishikawa N.
  TITLE     Naofen, a novel WD40-repeat protein, mediates spontaneous and tumor
            necrosis factor-induced apoptosis
  JOURNAL   Biochem Biophys Res Commun 394 (1), 153-157 (2010)
   PUBMED   20193664
  REMARK    GeneRIF: These results indicated that naofen may function as a novel
            modulator activating caspase-3, and promoting TNF-alpha-stimulated
            apoptosis.
REFERENCE   10  (bases 1 to 6931)
  AUTHORS   Tan,W., Lin,A. and Keppler-Noreuil,K.
  TITLE     Cranioectodermal Dysplasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24027799
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB037757.2, SRR1803613.27764.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000345530.8/ ENSP00000314444.5
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB037757.2, BC036659.2,
            BX476609.1 and BC033951.1.
            On Jun 2, 2019 this sequence version replaced NM_001006657.1.
            Summary: This gene encodes a member of the WD repeat protein
            family. WD repeats are minimally conserved regions of approximately
            40 amino acids typically bracketed by gly-his and trp-asp (GH-WD),
            which may facilitate formation of heterotrimeric or multiprotein
            complexes. Members of this family are involved in a variety of
            cellular processes, including cell cycle progression, signal
            transduction, apoptosis, and gene regulation. Multiple
            alternatively spliced transcript variants encoding distinct
            isoforms have been found for this gene. Two patients with
            Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were
            identified with mutations in this gene, consistent with a possible
            ciliary function.[provided by RefSeq, Sep 2010].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6931
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p24.1"
     gene            1..6931
                     /gene="WDR35"
                     /gene_synonym="CED2; CFAP118; FAP118; IFT121; IFTA1; SRTD7"
                     /note="WD repeat domain 35"
                     /db_xref="GeneID:57539"
                     /db_xref="HGNC:HGNC:29250"
                     /db_xref="MIM:613602"
     CDS             91..3636
                     /gene="WDR35"
                     /gene_synonym="CED2; CFAP118; FAP118; IFT121; IFTA1; SRTD7"
                     /note="isoform 1 is encoded by transcript variant 1;
                     naofen; WD repeat-containing protein 35; intraflagellar
                     transport protein 121 homolog"
                     /codon_start=1
                     /product="WD repeat-containing protein 35 isoform 1"
                     /protein_id="NP_001006658.1"
                     /db_xref="CCDS:CCDS33152.1"
                     /db_xref="GeneID:57539"
                     /db_xref="HGNC:HGNC:29250"
                     /db_xref="MIM:613602"
                     /translation="MFFYLSKKISIPNNVKLQCVSWNKEQGFIACGGEDGLLKVLKLET
                     QTDDAKLRGLAAPSNLSMNQTLEGHSGSVQVVTWNEQYQKLTTSDENGLIIVWMLYKGS
                     WIEEMINNRNKSVVRSMSWNADGQKICIVYEDGAVIVGSVDGNRIWGKDLKGIQLSHVT
                     WSADSKVLLFGMANGEIHIYDNQGNFMIKMKLSCLVNVTGAISIAGIHWYHGTEGYVEP
                     DCPCLAVCFDNGRCQIMRHENDQNPVLIDTGMYVVGIQWNHMGSVLAVAGFQKAAMQDK
                     DVNIVQFYTPFGEHLGTLKVPGKEISALSWEGGGLKIALAVDSFIYFANIRPNYKWGYC
                     SNTVVYAYTRPDRPEYCVVFWDTKNNEKYVKYVKGLISITTCGDFCILATKADENHPQE
                     ENEMETFGATFVLVLCNSIGTPLDPKYIDIVPLFVAMTKTHVIAASKEAFYTWQYRVAK
                     KLTALEINQITRSRKEGRERIYHVDDTPSGSMDGVLDYSKTIQGTRDPICAITASDKIL
                     IVGRESGTIQRYSLPNVGLIQKYSLNCRAYQLSLNCNSSRLAIIDISGVLTFFDLDARV
                     TDSTGQQVVGELLKLERRDVWDMKWAKDNPDLFAMMEKTRMYVFRNLDPEEPIQTSGYI
                     CNFEDLEIKSVLLDEILKDPEHPNKDYLINFEIRSLRDSRALIEKVGIKDASQFIEDNP
                     HPRLWRLLAEAALQKLDLYTAEQAFVRCKDYQGIKFVKRLGKLLSESMKQAEVVGYFGR
                     FEEAERTYLEMDRRDLAIGLRLKLGDWFRVLQLLKTGSGDADDSLLEQANNAIGDYFAD
                     RQKWLNAVQYYVQGRNQERLAECYYMLEDYEGLENLAISLPENHKLLPEIAQMFVRVGM
                     CEQAVTAFLKCSQPKAAVDTCVHLNQWNKAVELAKNHSMKEIGSLLARYASHLLEKNKT
                     LDAIELYRKANYFFDAAKLMFKIADEEAKKGSKPLRVKKLYVLSALLIEQYHEQMKNAQ
                     RGKVKGKSSEATSALAGLLEEEVLSTTDRFTDNAWRGAEAYHFFILAQRQLYEGCVDTA
                     LKTALHLKDYEDIIPPVEIYSLLALCACASRAFGTCSKAFIKLKSLETLSSEQKQQYED
                     LALEIFTKHTSKDNRKPELDSLMEGGEGKLPTCVATGSPITEYQFWMCSVCKHGVLAQE
                     ISHYSFCPLCHSPVG"
     misc_feature    100..219
                     /gene="WDR35"
                     /gene_synonym="CED2; CFAP118; FAP118; IFT121; IFTA1; SRTD7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2L0.3);
                     Region: WD 1"
     misc_feature    271..390
                     /gene="WDR35"
                     /gene_synonym="CED2; CFAP118; FAP118; IFT121; IFTA1; SRTD7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2L0.3);
                     Region: WD 2"
     misc_feature    403..519
                     /gene="WDR35"
                     /gene_synonym="CED2; CFAP118; FAP118; IFT121; IFTA1; SRTD7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2L0.3);
                     Region: WD 3"
     misc_feature    529..645
                     /gene="WDR35"
                     /gene_synonym="CED2; CFAP118; FAP118; IFT121; IFTA1; SRTD7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2L0.3);
                     Region: WD 4"
     misc_feature    667..813
                     /gene="WDR35"
                     /gene_synonym="CED2; CFAP118; FAP118; IFT121; IFTA1; SRTD7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2L0.3);
                     Region: WD 5"
     misc_feature    826..954
                     /gene="WDR35"
                     /gene_synonym="CED2; CFAP118; FAP118; IFT121; IFTA1; SRTD7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2L0.3);
                     Region: WD 6"
     regulatory      3929..3934
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR35"
                     /gene_synonym="CED2; CFAP118; FAP118; IFT121; IFTA1; SRTD7"
                     /note="hexamer: AATAAA"
     polyA_site      3954
                     /gene="WDR35"
                     /gene_synonym="CED2; CFAP118; FAP118; IFT121; IFTA1; SRTD7"
                     /note="major polyA site"
     regulatory      6911..6916
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR35"
                     /gene_synonym="CED2; CFAP118; FAP118; IFT121; IFTA1; SRTD7"
                     /note="hexamer: AATAAA"
     polyA_site      6931
                     /gene="WDR35"
                     /gene_synonym="CED2; CFAP118; FAP118; IFT121; IFTA1; SRTD7"
ORIGIN
        1 ccggagctgc tggtactccc gattggagac gtagaaccgt tacttgtcga gggccttagc
       61 ggccgccgtg accctctcgg ggatcccacg atgttcttct acctgagcaa gaaaatttcc
      121 attcccaata acgtgaagct gcagtgtgta tcctggaaca aggaacaagg gttcatagca
      181 tgcggtggtg aagatggatt actgaaagtt ttgaaattag agacgcagac agatgatgca
      241 aaattgaggg gccttgcagc ccccagtaac ctttctatga atcagactct tgaaggtcat
      301 agtggttctg ttcaagttgt aacatggaat gagcagtatc agaagttgac taccagtgat
      361 gaaaacgggc ttatcattgt gtggatgtta tataaaggct cttggattga ggagatgatc
      421 aacaatcgaa ataaatcagt tgttcgcagt atgagctgga atgctgacgg acagaagatc
      481 tgcattgtat atgaagatgg ggctgtgata gttggttcag tggatggcaa tcgtatttgg
      541 ggaaaagacc tgaagggtat acagctatcc catgtaacat ggtctgcgga cagtaaagtc
      601 ttactttttg gaatggcaaa tggggaaata cacatttacg ataatcaagg aaattttatg
      661 ataaaaatga aactgagttg tttggtgaat gtcactggag ctatcagcat tgctggaatt
      721 cattggtacc atggcacaga aggctacgtg gagcctgatt gcccttgcct tgctgtttgc
      781 tttgataatg gaagatgcca aataatgaga catgagaatg accaaaatcc cgttttgatt
      841 gacactggca tgtacgtagt aggcatccag tggaaccaca tgggcagcgt gttagctgtg
      901 gcaggcttcc agaaggcagc catgcaggac aaagatgtga acattgtgca gttttacact
      961 ccgtttggtg agcatctggg tactttgaaa gttcctggaa aggaaatatc tgcactatct
     1021 tgggaaggag gtggactgaa aattgcacta gctgttgatt cctttatata ttttgcaaac
     1081 attcgaccta attataagtg gggttattgc tcaaacactg tagtttatgc atataccaga
     1141 cctgatcgtc cagaatattg tgttgtcttc tgggatacga aaaacaatga aaaatatgtt
     1201 aaatatgtga agggtctcat ttctattact acctgtggag atttctgcat tttggctaca
     1261 aaagctgatg aaaatcatcc tcaggaggag aacgagatgg agacatttgg tgcaacgttt
     1321 gtactagttc tttgtaattc tattggtaca cccttggatc ccaaatacat tgatattgta
     1381 ccattgtttg ttgcaatgac caaaacccat gtgatagcag cctcgaaaga agcattttat
     1441 acctggcaat atcgtgtggc aaagaagctc acagcattgg aaattaatca gatcacacgg
     1501 tctcgaaaag aagggagaga aagaatttat catgttgatg ataccccttc tggatcaatg
     1561 gatggtgtgc ttgattatag taaaaccatt caaggcacaa gggatccaat ttgtgccata
     1621 actgcatcag ataagatatt gattgtgggt cgtgaatctg gcaccattca gagatacagt
     1681 ctacctaatg ttggtttgat tcaaaaatat tcccttaatt gtcgagccta ccagttatcc
     1741 ttgaattgca actctagccg tcttgctatc atagacatct caggagttct gactttcttt
     1801 gacttggatg ctcgagtaac ggacagtacg ggacagcaag tagttggaga gttgttaaaa
     1861 ttggaacgaa gagatgtctg ggatatgaag tgggccaaag ataatcctga tttgtttgca
     1921 atgatggaga agacaagaat gtatgttttc agaaacttgg atcctgagga acccattcag
     1981 acctctggat atatttgtaa ttttgaggat ttagaaatta aatctgttct tttggatgag
     2041 atattaaagg atccagaaca tccaaacaag gattacctaa ttaactttga gattcggtct
     2101 ctgcgagata gccgagcact gattgagaag gttggaatta aagatgcatc tcagttcata
     2161 gaggacaatc cacacccccg actttggcgc ctactggctg aagcagctct tcagaaactg
     2221 gatctataca ctgcagagca agcatttgtg cgctgcaaag attaccaagg cattaagttt
     2281 gtgaagcgct tgggcaaact actgagtgag tcaatgaaac aggctgaagt tgttggctac
     2341 ttcggcaggt ttgaagaggc tgaaagaacg tatctcgaga tggacagaag ggatcttgct
     2401 attggcctcc ggctgaaatt gggggattgg tttagagtac tccagctcct gaaaactgga
     2461 tctggtgatg cagatgacag tctcctggaa caagccaaca atgccattgg agactacttt
     2521 gctgatcgac aaaagtggtt gaatgctgta caatattatg tacaaggacg gaaccaggaa
     2581 cgcttagctg aatgttacta tatgttagag gattatgaag ggttagagaa ccttgccatt
     2641 tcacttccag aaaaccacaa gttacttcca gaaatagcac aaatgtttgt cagagttgga
     2701 atgtgtgaac aagcagtgac tgcatttttg aaatgtagtc aaccaaaggc agcagtagat
     2761 acctgcgtac atctcaacca atggaacaaa gctgttgaat tggctaaaaa tcatagtatg
     2821 aaagaaattg gatctctgtt agctaggtat gcatctcatt tactggaaaa gaataaaact
     2881 cttgatgcca tagaactcta tcggaaagcc aattactttt ttgatgcagc taaactgatg
     2941 tttaagattg cagatgaaga ggcaaagaaa ggaagtaaac ctttacgtgt caagaagctc
     3001 tatgtactgt cagccttact tatagagcaa taccatgaac agatgaagaa tgcccagcga
     3061 ggaaaagtta aaggaaaaag ttcagaggcc acttctgcct tggctggttt gctggaagaa
     3121 gaagttctgt ctacaacaga tcgtttcaca gataatgcat ggagaggggc agaggcttac
     3181 cacttcttta tacttgcaca gaggcagctc tatgagggat gtgtggacac tgcactgaag
     3241 acagctcttc acctgaaaga ctatgaagac atcatccctc ctgtggagat ctactctctg
     3301 ctagcactct gcgcatgcgc cagcagagcc tttgggactt gttcaaaagc tttcattaaa
     3361 cttaaatctt tagagaccct cagttcagaa cagaaacagc agtatgaaga ccttgcttta
     3421 gaaatcttca ccaaacatac ttcaaaagat aacagaaaac ctgaattgga cagccttatg
     3481 gaaggtggag aagggaaact gccaacatgc gttgccacag gaagcccaat cactgagtat
     3541 caattctgga tgtgcagtgt atgcaaacac ggtgtccttg ctcaggaaat aagccactac
     3601 agcttctgcc ccttatgcca tagtccagtg ggataaagga atgataaact gtatataact
     3661 gtaaaatata tgtagcatat atacatggct atatgctgta tatgtaataa ggtttatttc
     3721 tgtgagtttt gtatgaaaat cagcctcatt atttatagtt gaatttttgc acaaaatata
     3781 tgttaataaa ataattttta tggcaataca actgtgaaat aataaggccg attttcatat
     3841 aaatgtatga aaatcaacca tgttttctct caccctctct cttttgttta tcttgttttt
     3901 ggttacatga taccatggaa atattccaaa taaatttttt tctcacagtg tcaaggtaac
     3961 tgaattcatt aaaaaatctt gaagggagta gggagtgggg gaagcatggg agtggggcaa
     4021 agttgaattt agagaatttt tataacccat gttacaagga agttaaacaa ttgtaataat
     4081 gaaatgagct ttctctatag ccatatttaa ttaaataagt gtcgaatgtc ttctttattg
     4141 tattttcaga agtgaggcga tggcatttta agacattttt tacaatctga attgtttcta
     4201 atagccctat tcttctattt taaaacctgt ccttttagtc tcatttaaga gatggcattt
     4261 ggaatttaca ctttcatatg attgtgcaga aaacttgcct ctatttataa tgaagataac
     4321 ttaaacagaa atatccattt tgtagttata gcttctgttg aaacattgtc actaagttgg
     4381 accgtttatt tacacaagta ttgttgaggg agtgattttt tcttgatatg cgtctgtttt
     4441 catttattat taatttgaaa gataaacagt tgtgatccat aatggatcat ttcttatgtc
     4501 ttttacatag ctaataatgt tctctgttta tttctcatga attcccattt tgtggctaaa
     4561 gaccagacct ttgcactatt tcatcaagat tattttattg aggtttggct tacatatagt
     4621 agaggcaata catagagata cgcaactttg tttttgcagc tacaatacac tttctcaatc
     4681 tcatatgttt ttgtcttgta gagacagaga caagttcagc atgttgcaga ttgggaatag
     4741 tgagctatga gaagagattt agagcctaga tgagcttagg atagagagtg ggctcattgg
     4801 cctaaataaa aagagaagac cagaagtctt tgaggtctct gtctctattc atgcgcctcg
     4861 tggaaaatta ccttggtaca atggtagcct ctaaatagac tgcctcgcaa gctattccag
     4921 aggtcatgga acagaaagcc ttataaacca aataaaaatt ctcaaaatac attggtttat
     4981 tgaaccaatt tgcaatacac agtgaggaac aaggagaaag caatgataga ttaacactgt
     5041 tagtgtaacg tgccagtgga gtggaaagac cgcaacacct gaatcctggg ttttgtaatg
     5101 tttttatgtc ctgactcaca ttctgtcaca tacgctttcc cctaatagtc gggttacaaa
     5161 aaggaccaga gtggccgctt gagccagatg actcaatcag atgaaatgtg cctgaggcca
     5221 acgatgtaca cttgctctat agaagggtgt caggggcaag tacacttcac cacagcaata
     5281 gcttgcctat tagtctgctg agcagtcatg aattttattg tatttcttgg gtaaggacag
     5341 gccagaatga gtgtcaccag tgggtaattg aatcaacttc tcacacatac tgaaggcttt
     5401 atatgtctca tgcatactta gtgtatcatg aatatttggt atctttgtgg cttttcatat
     5461 ttttagtgct tcatgaatat ttggtatctc ttgctccttt ctatctgtgg tcacacatac
     5521 acgctctatt aactttgcct aataagtctc ctaggttact aacttactta cctaaatgta
     5581 acacaatgaa ttccagcttt ctcatttgtt ctataccaga atgggaaatt tccccaaatc
     5641 agaaaatcac atcctaacaa agaagtctgt ctaagacagt acatctcctg ttgaacttgc
     5701 atctttccac aggactttct gtttttaggg atgagactat tctctgcttc atcaaggaaa
     5761 gagaaatgtt cagggttgta gggatggcac acttattagt tctgcctgtc tgaaaggttc
     5821 ctgcaggaca gtttggtcag agctgcaatt cttagtccat ggtctaatgc ttgagtatct
     5881 cttctttccc tttcctgtct caggaatcag ctgagaattc attcgattgt catgcctcta
     5941 gccccttact gtgatttgtt ggttgcactt tcatttgctt tagttctaga atcacctgtt
     6001 gactcctcag acttcaccta actttggaaa ctctcttttg gaggcttctc atttccccct
     6061 aattctgtgc tgcctgagcc ctagaatttt cccaccaacg aattattcca ggtagatcct
     6121 aagttgctgg atctagttga tatttaaaca atatctagtt gatatttctc attcagttgg
     6181 atccagaaac cagtatctct aaaaacaacc tctcatacct tgtggaccta attttgtgtg
     6241 cgtgtgtgtg tgcgcgcata tgtatataga caggcacatc ttttttactt ttgtaaaagc
     6301 ttatgcctct ttggtatcta tatctgtgaa agttttaatg atctgccata atgtcttggg
     6361 gacctttgtc ttctgtgtaa atggtactag agaaaacacc tatattatga gtcaatctag
     6421 ttggttttat tcgacatgaa ggaaatttcc agataacaac actaacaaac tctcccttga
     6481 ctagggggac aaagaaaagc aaaactgacc ataaaaaaca attacctggt gagaagttgc
     6541 ataaacagaa ttaggtagta tattgaagac agcatcatta aacagttatg ttgttctcct
     6601 tgcaaaaaac atgtactgac ttcccgttga gtaatgccaa gttgtttttt ttattataaa
     6661 acttgccctt cattacatgt ttcaaagtgg tgtggtgggc caaaatattg aaatgatgga
     6721 actgactgat aaagctgtac aaataagcag tgtgcctaac aagcaacaca gtaatgttga
     6781 catgcttaat tcacaaatgc taatttcatt ataaattgtt ttgctaaaat acactttgaa
     6841 actatttttc tgtattccaa gagctgagat cttagatttt atgtagtatt aagtgaaaaa
     6901 atacgaaaat aataaacatt gaagaaaaaa a
//
LOCUS       NM_001006658            4139 bp    mRNA    linear   PRI 23-MAY-2023
DEFINITION  Homo sapiens complement C3d receptor 2 (CR2), transcript variant 1,
            mRNA.
ACCESSION   NM_001006658
VERSION     NM_001006658.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4139)
  AUTHORS   Jin H, Kong Z, Jiang B, Tu M, Xu J, Cheng J, Liu W, Zhang Z and Li
            Y.
  TITLE     Identification and Characterization of chCR2, a Protein That Binds
            Chicken Complement Component 3d
  JOURNAL   J Immunol 210 (9), 1408-1418 (2023)
   PUBMED   36971659
  REMARK    GeneRIF: Identification and Characterization of chCR2, a Protein
            That Binds Chicken Complement Component 3d.
REFERENCE   2  (bases 1 to 4139)
  AUTHORS   Keller B, Strohmeier V, Harder I, Unger S, Payne KJ, Andrieux G,
            Boerries M, Felixberger PT, Landry JJM, Nieters A, Rensing-Ehl A,
            Salzer U, Frede N, Usadel S, Elling R, Speckmann C, Hainmann I,
            Ralph E, Gilmour K, Wentink MWJ, van der Burg M, Kuehn HS,
            Rosenzweig SD, Kolsch U, von Bernuth H, Kaiser-Labusch P, Gothe F,
            Hambleton S, Vlagea AD, Garcia Garcia A, Alsina L, Markelj G, Avcin
            T, Vasconcelos J, Guedes M, Ding JY, Ku CL, Shadur B, Avery DT,
            Venhoff N, Thiel J, Becker H, Erazo-Borras L, Trujillo-Vargas CM,
            Franco JL, Fieschi C, Okada S, Gray PE, Uzel G, Casanova JL,
            Fliegauf M, Grimbacher B, Eibel H, Ehl S, Voll RE, Rizzi M,
            Stepensky P, Benes V, Ma CS, Bossen C, Tangye SG and Warnatz K.
  TITLE     The expansion of human T-bethighCD21low B cells is T cell dependent
  JOURNAL   Sci Immunol 6 (64), eabh0891 (2021)
   PUBMED   34623902
  REMARK    GeneRIF: The expansion of human T-bet(high)CD21(low) B cells is T
            cell dependent.
REFERENCE   3  (bases 1 to 4139)
  AUTHORS   Kovacs KG, Macsik-Valent B, Matko J, Bajtay Z and Erdei A.
  TITLE     Revisiting the Coreceptor Function of Complement Receptor Type 2
            (CR2, CD21); Coengagement With the B-Cell Receptor Inhibits the
            Activation, Proliferation, and Antibody Production of Human B Cells
  JOURNAL   Front Immunol 12, 620427 (2021)
   PUBMED   33868238
  REMARK    GeneRIF: Revisiting the Coreceptor Function of Complement Receptor
            Type 2 (CR2, CD21); Coengagement With the B-Cell Receptor Inhibits
            the Activation, Proliferation, and Antibody Production of Human B
            Cells. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4139)
  AUTHORS   Ng HL, Taylor RL, Cheng J, Abraham LJ, Quail E, Cruickshank MN and
            Ulgiati D.
  TITLE     Notch signaling induces a transcriptionally permissive state at the
            Complement C3d Receptor 2 (CR2) promoter in a pre-B cell model
  JOURNAL   Mol Immunol 128, 150-164 (2020)
   PUBMED   33129017
  REMARK    GeneRIF: Notch signaling induces a transcriptionally permissive
            state at the Complement C3d Receptor 2 (CR2) promoter in a pre-B
            cell model.
REFERENCE   5  (bases 1 to 4139)
  AUTHORS   Rijal S, Kok J, Coombes C, Smyth L, Hourigan J, Jain S and
            Talaulikar D.
  TITLE     High proportion of anergic B cells in the bone marrow defined
            phenotypically by CD21(-/low)/CD38- expression predicts poor
            survival in diffuse large B cell lymphoma
  JOURNAL   BMC Cancer 20 (1), 1061 (2020)
   PUBMED   33143694
  REMARK    GeneRIF: High proportion of anergic B cells in the bone marrow
            defined phenotypically by CD21(-/low)/CD38- expression predicts poor
            survival in diffuse large B cell lymphoma. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 4139)
  AUTHORS   Birkenbach M, Tong X, Bradbury LE, Tedder TF and Kieff E.
  TITLE     Characterization of an Epstein-Barr virus receptor on human
            epithelial cells
  JOURNAL   J Exp Med 176 (5), 1405-1414 (1992)
   PUBMED   1383386
REFERENCE   7  (bases 1 to 4139)
  AUTHORS   Bradbury LE, Kansas GS, Levy S, Evans RL and Tedder TF.
  TITLE     The CD19/CD21 signal transducing complex of human B lymphocytes
            includes the target of antiproliferative antibody-1 and Leu-13
            molecules
  JOURNAL   J Immunol 149 (9), 2841-2850 (1992)
   PUBMED   1383329
REFERENCE   8  (bases 1 to 4139)
  AUTHORS   Levy E, Ambrus J, Kahl L, Molina H, Tung K and Holers VM.
  TITLE     T lymphocyte expression of complement receptor 2 (CR2/CD21): a role
            in adhesive cell-cell interactions and dysregulation in a patient
            with systemic lupus erythematosus (SLE)
  JOURNAL   Clin Exp Immunol 90 (2), 235-244 (1992)
   PUBMED   1424280
REFERENCE   9  (bases 1 to 4139)
  AUTHORS   Gauffre A, Viron A, Barel M, Hermann J, Puvion E and Frade R.
  TITLE     Nuclear localization of the Epstein-Barr virus/C3d receptor (CR2) in
            the human Burkitt B lymphoma cell, Raji
  JOURNAL   Mol Immunol 29 (9), 1113-1120 (1992)
   PUBMED   1323059
REFERENCE   10  (bases 1 to 4139)
  AUTHORS   Yefenof,E., Klein,G., Jondal,M. and Oldstone,M.B.
  TITLE     Surface markers on human B and T-lymphocytes. IX. Two-color
            immunofluorescence studies on the association between ebv receptors
            and complement receptors on the surface of lymphoid cell lines
  JOURNAL   Int J Cancer 17 (6), 693-700 (1976)
   PUBMED   181330
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK223627.1, AK301496.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367057.8/ ENSP00000356024.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU133057.1, AK301496.1,
            Y00649.1, AW303499.1 and BQ004295.1.
            On Sep 18, 2019 this sequence version replaced NM_001006658.2.
            Summary: This gene encodes a membrane protein, which functions as a
            receptor for Epstein-Barr virus (EBV) binding on B and T
            lymphocytes. Genetic variations in this gene are associated with
            susceptibility to systemic lupus erythematosus type 9 (SLEB9).
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene.[provided by RefSeq, Sep
            2009].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4139
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.2"
     gene            1..4139
                     /gene="CR2"
                     /gene_synonym="C3DR; CD21; CR; CVID7; SLEB9"
                     /note="complement C3d receptor 2"
                     /db_xref="GeneID:1380"
                     /db_xref="HGNC:HGNC:2336"
                     /db_xref="MIM:120650"
     CDS             92..3370
                     /gene="CR2"
                     /gene_synonym="C3DR; CD21; CR; CVID7; SLEB9"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; complement receptor type 2; EBV receptor; complement
                     component (3d/Epstein Barr virus) receptor 2; complement
                     component 3d receptor 2"
                     /codon_start=1
                     /product="complement receptor type 2 isoform 1 precursor"
                     /protein_id="NP_001006659.1"
                     /db_xref="CCDS:CCDS31007.1"
                     /db_xref="GeneID:1380"
                     /db_xref="HGNC:HGNC:2336"
                     /db_xref="MIM:120650"
                     /translation="MGAAGLLGVFLALVAPGVLGISCGSPPPILNGRISYYSTPIAVGT
                     VIRYSCSGTFRLIGEKSLLCITKDKVDGTWDKPAPKCEYFNKYSSCPEPIVPGGYKIRG
                     STPYRHGDSVTFACKTNFSMNGNKSVWCQANNMWGPTRLPTCVSVFPLECPALPMIHNG
                     HHTSENVGSIAPGLSVTYSCESGYLLVGEKIINCLSSGKWSAVPPTCEEARCKSLGRFP
                     NGKVKEPPILRVGVTANFFCDEGYRLQGPPSSRCVIAGQGVAWTKMPVCEEIFCPSPPP
                     ILNGRHIGNSLANVSYGSIVTYTCDPDPEEGVNFILIGESTLRCTVDSQKTGTWSGPAP
                     RCELSTSAVQCPHPQILRGRMVSGQKDRYTYNDTVIFACMFGFTLKGSKQIRCNAQGTW
                     EPSAPVCEKECQAPPNILNGQKEDRHMVRFDPGTSIKYSCNPGYVLVGEESIQCTSEGV
                     WTPPVPQCKVAACEATGRQLLTKPQHQFVRPDVNSSCGEGYKLSGSVYQECQGTIPWFM
                     EIRLCKEITCPPPPVIYNGAHTGSSLEDFPYGTTVTYTCNPGPERGVEFSLIGESTIRC
                     TSNDQERGTWSGPAPLCKLSLLAVQCSHVHIANGYKISGKEAPYFYNDTVTFKCYSGFT
                     LKGSSQIRCKADNTWDPEIPVCEKGCQSPPGLHHGRHTGGNTVFFVSGMTVDYTCDPGY
                     LLVGNKSIHCMPSGNWSPSAPRCEETCQHVRQSLQELPAGSRVELVNTSCQDGYQLTGH
                     AYQMCQDAENGIWFKKIPLCKVIHCHPPPVIVNGKHTGMMAENFLYGNEVSYECDQGFY
                     LLGEKKLQCRSDSKGHGSWSGPSPQCLRSPPVTRCPNPEVKHGYKLNKTHSAYSHNDIV
                     YVDCNPGFIMNGSRVIRCHTDNTWVPGVPTCIKKAFIGCPPPPKTPNGNHTGGNIARFS
                     PGMSILYSCDQGYLLVGEALLLCTHEGTWSQPAPHCKEVNCSSPADMDGIQKGLEPRKM
                     YQYGAVVTLECEDGYMLEGSPQSQCQSDHQWNPPLAVCRSRSLAPVLCGIAAGLILLTF
                     LIVITLYVISKHRARNYYTDTSQKEAFHLEAREVYSVDPYNPAS"
     sig_peptide     92..151
                     /gene="CR2"
                     /gene_synonym="C3DR; CD21; CR; CVID7; SLEB9"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     152..3367
                     /gene="CR2"
                     /gene_synonym="C3DR; CD21; CR; CVID7; SLEB9"
                     /product="complement receptor type 2 isoform 1"
     regulatory      4112..4117
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CR2"
                     /gene_synonym="C3DR; CD21; CR; CVID7; SLEB9"
                     /note="hexamer: AATAAA"
     polyA_site      4139
                     /gene="CR2"
                     /gene_synonym="C3DR; CD21; CR; CVID7; SLEB9"
                     /note="major polyA site"
ORIGIN
        1 agctgcttgc tgctccagcc ttgccctccc agagctgccg gacgctcgcg ggtctcggaa
       61 cgcatcccgc cgcgggggct tcggccgtgg catgggcgcc gcgggcctgc tcggggtttt
      121 cttggctctc gtcgcaccgg gggtcctcgg gatttcttgt ggctctcctc cgcctatcct
      181 aaatggccgg attagttatt attctacccc cattgctgtt ggtaccgtga taaggtacag
      241 ttgttcaggt accttccgcc tcattggaga aaaaagtcta ttatgcataa ctaaagacaa
      301 agtggatgga acctgggata aacctgctcc taaatgtgaa tatttcaata aatattcttc
      361 ttgccctgag cccatagtac caggaggata caaaattaga ggctctacac cctacagaca
      421 tggtgattct gtgacatttg cctgtaaaac caacttctcc atgaacggaa acaagtctgt
      481 ttggtgtcaa gcaaataata tgtgggggcc gacacgacta ccaacctgtg taagtgtttt
      541 ccctctcgag tgtccagcac ttcctatgat ccacaatgga catcacacaa gtgagaatgt
      601 tggctccatt gctccaggat tgtctgtgac ttacagctgt gaatctggtt acttgcttgt
      661 tggagaaaag atcattaact gtttgtcttc gggaaaatgg agtgctgtcc cccccacatg
      721 tgaagaggca cgctgtaaat ctctaggacg atttcccaat gggaaggtaa aggagcctcc
      781 aattctccgg gttggtgtaa ctgcaaactt tttctgtgat gaagggtatc gactgcaagg
      841 cccaccttct agtcggtgtg taattgctgg acagggagtt gcttggacca aaatgccagt
      901 atgtgaagaa attttttgcc catcacctcc ccctattctc aatggaagac atataggcaa
      961 ctcactagca aatgtctcat atggaagcat agtcacttac acttgtgacc cggacccaga
     1021 ggaaggagtg aacttcatcc ttattggaga gagcactctc cgttgtacag ttgatagtca
     1081 gaagactggg acctggagtg gccctgcccc acgctgtgaa ctttctactt ctgcggttca
     1141 gtgtccacat ccccagatcc taagaggccg aatggtatct gggcagaaag atcgatatac
     1201 ctataacgac actgtgatat ttgcttgcat gtttggcttc accttgaagg gcagcaagca
     1261 aatccgatgc aatgcccaag gcacatggga gccatctgca ccagtctgtg aaaaggaatg
     1321 ccaggcccct cctaacatcc tcaatgggca aaaggaagat agacacatgg tccgctttga
     1381 ccctggaaca tctataaaat atagctgtaa ccctggctat gtgctggtgg gagaagaatc
     1441 catacagtgt acctctgagg gggtgtggac accccctgta ccccaatgca aagtggcagc
     1501 gtgtgaagct acaggaaggc aactcttgac aaaaccccag caccaatttg ttagaccaga
     1561 tgtcaactct tcttgtggtg aagggtacaa gttaagtggg agtgtttatc aggagtgtca
     1621 aggcacaatt ccttggttta tggagattcg tctttgtaaa gaaatcacct gcccaccacc
     1681 ccctgttatc tacaatgggg cacacaccgg gagttcctta gaagattttc catatggaac
     1741 cacggtcact tacacatgta accctgggcc agaaagagga gtggaattca gcctcattgg
     1801 agagagcacc atccgttgta caagcaatga tcaagaaaga ggcacctgga gtggccctgc
     1861 tcccctgtgt aaactttccc tccttgctgt ccagtgctca catgtccata ttgcaaatgg
     1921 atacaagata tctggcaagg aagccccata tttctacaat gacactgtga cattcaagtg
     1981 ttatagtgga tttactttga agggcagtag tcagattcgt tgcaaagctg ataacacctg
     2041 ggatcctgaa ataccagttt gtgaaaaagg ctgccagtca cctcctgggc tccaccatgg
     2101 tcgtcataca ggtggaaata cggtcttctt tgtctctggg atgactgtag actacacttg
     2161 tgaccctggc tatttgcttg tgggaaacaa atccattcac tgtatgcctt caggaaattg
     2221 gagtccttct gccccacggt gtgaagaaac atgccagcat gtgagacaga gtcttcaaga
     2281 acttccagct ggttcacgtg tggagctagt taatacgtcc tgccaagatg ggtaccagtt
     2341 gactggacat gcttatcaga tgtgtcaaga tgctgaaaat ggaatttggt tcaaaaagat
     2401 tccactttgt aaagttattc actgtcaccc tccaccagtg attgtcaatg ggaagcacac
     2461 aggcatgatg gcagaaaact ttctatatgg aaatgaagtc tcttatgaat gtgaccaagg
     2521 attctatctc ctgggagaga aaaaattgca gtgcagaagt gattctaaag gacatggatc
     2581 ttggagcggg ccttccccac agtgcttacg atctcctcct gtgactcgct gccctaatcc
     2641 agaagtcaaa catgggtaca agctcaataa aacacattct gcatattccc acaatgacat
     2701 agtgtatgtt gactgcaatc ctggcttcat catgaatggt agtcgcgtga ttaggtgtca
     2761 tactgataac acatgggtgc caggtgtgcc aacttgtatc aaaaaagcct tcatagggtg
     2821 tccacctccg cctaagaccc ctaacgggaa ccatactggt ggaaacatag ctcgattttc
     2881 tcctggaatg tcaatcctgt acagctgtga ccaaggctac ctgctggtgg gagaggcact
     2941 ccttctttgc acacatgagg gaacctggag ccaacctgcc cctcattgta aagaggtaaa
     3001 ctgtagctca ccagcagata tggatggaat ccagaaaggg ctggaaccaa ggaaaatgta
     3061 tcagtatgga gctgttgtaa ctctggagtg tgaagatggg tatatgctgg aaggcagtcc
     3121 ccagagccag tgccaatcgg atcaccaatg gaaccctccc ctggcggttt gcagatcccg
     3181 ttcacttgct cctgtccttt gtggtattgc tgcaggtttg atacttctta ccttcttgat
     3241 tgtcattacc ttatacgtga tatcaaaaca cagagcacgc aattattata cagatacaag
     3301 ccagaaagaa gcttttcatt tagaagcacg agaagtatat tctgttgatc catacaaccc
     3361 agccagctga tcagaagaca aactggtgtg tgcctcattg cttggaattc agcggaatat
     3421 tgattagaaa gaaactgctc taatatcagc aagtctcttt atatggcctc aagatcaatg
     3481 aaatgatgtc ataagcgatc acttcctata tgcacttatt ctcaagaaga acatctttat
     3541 ggtaaagatg ggagcccagt ttcactgcca tatactcttc aaggactttc tgaagcctca
     3601 cttatgagat gcctgaagcc aggccatggc tataaacaat tacatggctc taaaaagttt
     3661 tgcccttttt aaggaaggca ctaaaaagag ctgtcctggt atctagaccc atcttctttt
     3721 tgaaatcagc atactcaatg ttactatctg cttttggtta taatgtgttt ttaattatct
     3781 aaagtatgaa gcattttctg gggttatgat ggctttacct ttattaggaa gtatggtttt
     3841 attttgatag tagcttcctc ctctggtggt gttaatcatt tcatttttac ccttacttgg
     3901 tttgagtttc tctcacatta ctgtatatac tttgcctttc cataatcact cagtgattgc
     3961 aatttgcaca agttttttta aattatggga atcaagattt aatcctagag atttggtgta
     4021 caattcaggc tttggatgtt tctttagcag ttttgtgata agttctagtt gcttgtaaaa
     4081 tttcacttaa taatgtgtac attagtcatt caataaattg taattgtaaa gaaaacata
//
LOCUS       NM_001006681            1261 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens spindlin family member 2B (SPIN2B), transcript variant
            1, mRNA.
ACCESSION   NM_001006681
VERSION     NM_001006681.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1261)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1261)
  AUTHORS   Bae N, Gao M, Li X, Premkumar T, Sbardella G, Chen J and Bedford MT.
  TITLE     A transcriptional coregulator, SPIN.DOC, attenuates the coactivator
            activity of Spindlin1
  JOURNAL   J Biol Chem 292 (51), 20808-20817 (2017)
   PUBMED   29061846
REFERENCE   3  (bases 1 to 1261)
  AUTHORS   Zhang B, Abreu JG, Zhou K, Chen Y, Hu Y, Zhou T, He X and Ma JX.
  TITLE     Blocking the Wnt pathway, a unifying mechanism for an angiogenic
            inhibitor in the serine proteinase inhibitor family
  JOURNAL   Proc Natl Acad Sci U S A 107 (15), 6900-6905 (2010)
   PUBMED   20351274
  REMARK    GeneRIF: SERPINA3K is a high-affinity, endogenous antagonist of LRP6
REFERENCE   4  (bases 1 to 1261)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer
            M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL,
            Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME,
            Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R,
            Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson
            A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler
            DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S,
            Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker
            GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O,
            Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman
            AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P,
            Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel
            L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z,
            Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S,
            Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS,
            Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O,
            Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H,
            Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T,
            Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis
            F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner
            G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R,
            Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S,
            Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume
            J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de
            Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis
            P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK,
            Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM,
            Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J,
            Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl
            P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S,
            Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN,
            Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S,
            Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey
            Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG,
            Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD,
            Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann
            RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K,
            Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M,
            Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry
            GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey
            DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L,
            Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S,
            Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A,
            Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM,
            Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R,
            Hubbard T, Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   5  (bases 1 to 1261)
  AUTHORS   Fletcher BS, Dragstedt C, Notterpek L and Nolan GP.
  TITLE     Functional cloning of SPIN-2, a nuclear anti-apoptotic protein with
            roles in cell cycle progression
  JOURNAL   Leukemia 16 (8), 1507-1518 (2002)
   PUBMED   12145692
REFERENCE   6  (bases 1 to 1261)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH,
            Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC071974.1, SRR14038193.932741.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000434397.3/ ENSP00000404314.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL022157.1, BQ221120.1 and BC071974.1.
            On Aug 13, 2020 this sequence version replaced NM_001006681.1.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1, 2 and 3
            encode the same isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1261
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.21"
     gene            1..1261
                     /gene="SPIN2B"
                     /gene_synonym="dJ323P24.2; SPIN-2; SPIN-2B;
                     SPIN2_duplicate; TDRD26"
                     /note="spindlin family member 2B"
                     /db_xref="GeneID:474343"
                     /db_xref="HGNC:HGNC:33147"
                     /db_xref="MIM:300517"
     misc_feature    275..277
                     /gene="SPIN2B"
                     /gene_synonym="dJ323P24.2; SPIN-2; SPIN-2B;
                     SPIN2_duplicate; TDRD26"
                     /note="upstream in-frame stop codon"
     CDS             314..1090
                     /gene="SPIN2B"
                     /gene_synonym="dJ323P24.2; SPIN-2; SPIN-2B;
                     SPIN2_duplicate; TDRD26"
                     /note="isoform 1 is encoded by transcript variant 1;
                     telomeric SPIN2 copy; spindlin family, member 2 duplicate;
                     spindlin-2B; spindlin-like protein 2B"
                     /codon_start=1
                     /product="spindlin-2B isoform 1"
                     /protein_id="NP_001006682.1"
                     /db_xref="CCDS:CCDS35311.1"
                     /db_xref="GeneID:474343"
                     /db_xref="HGNC:HGNC:33147"
                     /db_xref="MIM:300517"
                     /translation="MKTPNAQEAEGQQTRAAAGRATGSANMTKKKVSQKKQRGRPSSQP
                     RRNIVGCRISHGWKEGDEPITQWKGTVLDQVPINPSLYLVKYDGIDCVYGLELHRDERV
                     LSLKILSDRVASSHISDANLANTIIGKAVEHMFEGEHGSKDEWRGMVLAQAPIMKAWFY
                     ITYEKDPVLYMYQLLDDYKEGDLRIMPESSESPPTEREPGGVVDGLIGKHVEYTKEDGS
                     KRIGMVIHQVEAKPSVYFIKFDDDFHIYVYDLVKKS"
     misc_feature    314..460
                     /gene="SPIN2B"
                     /gene_synonym="dJ323P24.2; SPIN-2; SPIN-2B;
                     SPIN2_duplicate; TDRD26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BPZ2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    461..610
                     /gene="SPIN2B"
                     /gene_synonym="dJ323P24.2; SPIN-2; SPIN-2B;
                     SPIN2_duplicate; TDRD26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BPZ2.1);
                     Region: Tudor-like domain 1. /evidence=ECO:0000255"
     misc_feature    698..847
                     /gene="SPIN2B"
                     /gene_synonym="dJ323P24.2; SPIN-2; SPIN-2B;
                     SPIN2_duplicate; TDRD26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BPZ2.1);
                     Region: Tudor-like domain 2. /evidence=ECO:0000255"
     misc_feature    725..727
                     /gene="SPIN2B"
                     /gene_synonym="dJ323P24.2; SPIN-2; SPIN-2B;
                     SPIN2_duplicate; TDRD26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BPZ2.1);
                     Region: Histone H3K4me3 and H3R8me2a binding.
                     /evidence=ECO:0000250|UniProtKB:Q9Y657"
     misc_feature    818..820
                     /gene="SPIN2B"
                     /gene_synonym="dJ323P24.2; SPIN-2; SPIN-2B;
                     SPIN2_duplicate; TDRD26"
                     /note="Histone H3K4me3 and H3R8me2a binding.
                     /evidence=ECO:0000250|UniProtKB:Q9Y657; propagated from
                     UniProtKB/Swiss-Prot (Q9BPZ2.1); other site"
     misc_feature    839..841
                     /gene="SPIN2B"
                     /gene_synonym="dJ323P24.2; SPIN-2; SPIN-2B;
                     SPIN2_duplicate; TDRD26"
                     /note="Histone H3K4me3 and H3R8me2a binding.
                     /evidence=ECO:0000250|UniProtKB:Q9Y657; propagated from
                     UniProtKB/Swiss-Prot (Q9BPZ2.1); other site"
     misc_feature    851..853
                     /gene="SPIN2B"
                     /gene_synonym="dJ323P24.2; SPIN-2; SPIN-2B;
                     SPIN2_duplicate; TDRD26"
                     /note="Histone H3K4me3 and H3R8me2a binding.
                     /evidence=ECO:0000250|UniProtKB:Q9Y657; propagated from
                     UniProtKB/Swiss-Prot (Q9BPZ2.1); other site"
     misc_feature    941..1078
                     /gene="SPIN2B"
                     /gene_synonym="dJ323P24.2; SPIN-2; SPIN-2B;
                     SPIN2_duplicate; TDRD26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BPZ2.1);
                     Region: Tudor-like domain 3. /evidence=ECO:0000255"
     misc_feature    1049..1057
                     /gene="SPIN2B"
                     /gene_synonym="dJ323P24.2; SPIN-2; SPIN-2B;
                     SPIN2_duplicate; TDRD26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BPZ2.1);
                     Region: Histone H3K4me3 and H3R8me2a binding.
                     /evidence=ECO:0000250|UniProtKB:Q9Y657"
     regulatory      1239..1244
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPIN2B"
                     /gene_synonym="dJ323P24.2; SPIN-2; SPIN-2B;
                     SPIN2_duplicate; TDRD26"
                     /note="hexamer: AATACA"
     polyA_site      1261
                     /gene="SPIN2B"
                     /gene_synonym="dJ323P24.2; SPIN-2; SPIN-2B;
                     SPIN2_duplicate; TDRD26"
                     /note="major polyA site"
ORIGIN
        1 aggagactgc cgcggcgaca gcagggactg gtggaatccc gatgtggctg aggggccgcc
       61 accgccagca gggaggcgga gggctagcga gccaagcggt ggggacgccg ctgccttcct
      121 ctttgcctgt ctcgccgccc tcctagacac gctcctcatc tacggatcct accctccccg
      181 ctcttgcaag cattcactcg gccggtcgcc tgctgaccct ccttcgccac aggctcgtag
      241 cggaggcagc agcgaggtgt ccgatttggg cacgtgaggc ccgcgatccc cggcggtgga
      301 cgccaggcag ggcatgaaga cccccaacgc acaggaagcc gaagggcaac aaaccagggc
      361 agctgcagga cgggccactg ggtctgcaaa catgacaaag aaaaaagtct cccaaaagaa
      421 gcagagaggc cgaccttcat cccagccccg caggaacatc gtgggctgca gaatttctca
      481 tggatggaag gaaggagatg agcccatcac gcagtggaaa ggaaccgttc tggatcaggt
      541 gcctataaat ccctctcttt atctggtgaa atatgatgga attgactgtg tctatggact
      601 ggaacttcac agagatgaaa gggttttgtc tcttaaaatt ctttctgaca gggtggcatc
      661 atctcacatt agtgatgcca accttgcaaa taccataatt ggcaaagcag tggaacatat
      721 gtttgaggga gagcatggtt ctaaggatga atggaggggg atggtcttag ctcaagcacc
      781 tatcatgaaa gcctggtttt atattaccta tgagaaagat cctgtcttgt acatgtacca
      841 gcttctagat gattataagg aaggtgacct ccgcatcatg ccagaatcca gtgagtctcc
      901 tccaacagag agggagccag gaggagttgt agatggccta ataggtaagc atgtggaata
      961 taccaaagaa gatggctcca aaaggatcgg catggtcatt caccaagtgg aagccaaacc
     1021 ctctgtgtat ttcatcaagt ttgatgatga tttccatatc tatgtctacg atttggtgaa
     1081 aaagtcctaa ctgttagggt aaaatttggc acatgtgtgg aaacaaatgt ataatttgta
     1141 gacatgcaaa aaatgttgcc tttcagtgta ttgaaagctt atggaatccc tgataactaa
     1201 acatctttgc cagcattaac tgttgttttg ctctaaaaaa tacaaacttg tgtgtacatg
     1261 a
//
LOCUS       NM_001006935            1264 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens transcription elongation factor A like 4 (TCEAL4),
            transcript variant 2, mRNA.
ACCESSION   NM_001006935
VERSION     NM_001006935.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1264)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1264)
  AUTHORS   Akaishi J, Onda M, Okamoto J, Miyamoto S, Nagahama M, Ito K, Yoshida
            A and Shimizu K.
  TITLE     Down-regulation of transcription elogation factor A (SII) like 4
            (TCEAL4) in anaplastic thyroid cancer
  JOURNAL   BMC Cancer 6, 260 (2006)
   PUBMED   17076909
  REMARK    GeneRIF: Expression of TCEAL4 was down-regulated in all anaplastic
            thyroid carcinomas studied. Loss of TCEAL4 expression might be
            associated with development of ATC from pre-existing diffferentiated
            TC. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1264)
  AUTHORS   Winter EE and Ponting CP.
  TITLE     Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism
            sustained by gene conversion events
  JOURNAL   BMC Evol Biol 5, 54 (2005)
   PUBMED   16221301
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1264)
  AUTHORS   Ohira M, Morohashi A, Inuzuka H, Shishikura T, Kawamoto T, Kageyama
            H, Nakamura Y, Isogai E, Takayasu H, Sakiyama S, Suzuki Y, Sugano S,
            Goto T, Sato S and Nakagawara A.
  TITLE     Expression profiling and characterization of 4200 genes cloned from
            primary neuroblastomas: identification of 305 genes differentially
            expressed between favorable and unfavorable subsets
  JOURNAL   Oncogene 22 (35), 5525-5536 (2003)
   PUBMED   12934113
REFERENCE   5  (bases 1 to 1264)
  AUTHORS   Lu XW, Yin JY and Cui LX.
  TITLE     [Cloning of human B lymphocyte activation-related novel gene]
  JOURNAL   Zhongguo Yi Xue Ke Xue Yuan Xue Bao 23 (1), 27-31 (2001)
   PUBMED   12905813
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF271783.1, SRR5189658.124919.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000472484.6/ ENSP00000421156.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF271783.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 21, 2020 this sequence version replaced NM_001006935.2.
            Summary: This gene encodes a member of the transcription elongation
            factor A (SII)-like (TCEAL) gene family. This family is comprised
            of nuclear phosphoproteins that modulate transcription in a
            promoter context-dependent manner. Multiple family members are
            located on the X chromosome. Alternatively splicing results in
            multiple transcript variants. There is a pseudogene for this gene
            on chromosome 13. [provided by RefSeq, Apr 2015].
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 5' UTR compared to variant 1. Variants 1, 2, 4, 6, 7, and 8
            encode the same isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1264
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.2"
     gene            1..1264
                     /gene="TCEAL4"
                     /gene_synonym="NPD017; WEX7"
                     /note="transcription elongation factor A like 4"
                     /db_xref="GeneID:79921"
                     /db_xref="HGNC:HGNC:26121"
     misc_feature    148..150
                     /gene="TCEAL4"
                     /gene_synonym="NPD017; WEX7"
                     /note="upstream in-frame stop codon"
     CDS             211..858
                     /gene="TCEAL4"
                     /gene_synonym="NPD017; WEX7"
                     /note="isoform 1 is encoded by transcript variant 2;
                     transcription elongation factor A protein-like 4; TCEA-like
                     protein 4; transcription elongation factor S-II
                     protein-like 4; epididymis secretory sperm binding protein;
                     transcription elongation factor A (SII)-like 4"
                     /codon_start=1
                     /product="transcription elongation factor A protein-like 4
                     isoform 1"
                     /protein_id="NP_001006936.1"
                     /db_xref="CCDS:CCDS14510.2"
                     /db_xref="GeneID:79921"
                     /db_xref="HGNC:HGNC:26121"
                     /translation="MEKLYSENEGMASNQGKMENEEQPQDERKPEVTCTLEDKKLENEG
                     KTENKGKTGDEEMLKDKGKPESEGEAKEGKSEREGESEMEGGSEREGKPEIEGKPESEG
                     EPGSETRAAGKRPAEDDVPRKAKRKTNKGLAHYLKEYKEAIHDMNFSNEDMIREFDNMA
                     KVQDEKRKSKQKLGAFLWMQRNLQDPFYPRGPREFRGGCRAPRRDIEDIPYV"
     misc_feature    211..609
                     /gene="TCEAL4"
                     /gene_synonym="NPD017; WEX7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96EI5.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    211..213
                     /gene="TCEAL4"
                     /gene_synonym="NPD017; WEX7"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q96EI5.2); acetylation site"
     misc_feature    226..228
                     /gene="TCEAL4"
                     /gene_synonym="NPD017; WEX7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96EI5.2); phosphorylation site"
     misc_feature    472..474
                     /gene="TCEAL4"
                     /gene_synonym="NPD017; WEX7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96EI5.2); phosphorylation site"
     misc_feature    514..516
                     /gene="TCEAL4"
                     /gene_synonym="NPD017; WEX7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96EI5.2); phosphorylation site"
     regulatory      1026..1031
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TCEAL4"
                     /gene_synonym="NPD017; WEX7"
                     /note="hexamer: ATTAAA"
     polyA_site      1053
                     /gene="TCEAL4"
                     /gene_synonym="NPD017; WEX7"
                     /note="major polyA site"
     regulatory      1248..1253
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TCEAL4"
                     /gene_synonym="NPD017; WEX7"
                     /note="hexamer: TATAAA"
     polyA_site      1264
                     /gene="TCEAL4"
                     /gene_synonym="NPD017; WEX7"
ORIGIN
        1 gcacgggcgc agatgtaggc accggtccga gtgcctgccc tctgtccccg cggctgggtc
       61 tcgtctgctc cggttcctgg gctcctaatt cttggtccag cttcttccag gtctgcgcgt
      121 ctgttgttcc cagcgctctg cgaagcctga aaaggaggag caacctgtcc agaatccccg
      181 caggacagga aaaggagggg aaatctcgac atggaaaaac tctacagtga aaatgaagga
      241 atggcttcaa accaaggaaa gatggaaaat gaagaacagc cacaagacga gagaaagcca
      301 gaagtaactt gtactctgga agacaagaag ttagaaaacg agggaaagac agaaaacaag
      361 ggcaaaacag gagatgagga aatgttaaag gataaaggaa agccagagag tgagggagag
      421 gcaaaagaag gaaagtcaga gagggaggga gagtcagaga tggagggagg atcagagaga
      481 gagggaaaac cagagataga gggaaagcca gagagtgaag gagagccagg gagtgaaaca
      541 agggctgcag gaaagcgccc agctgaggat gatgtaccca ggaaagccaa aagaaaaact
      601 aataaggggc tggctcatta cctcaaggag tataaagagg ccatacatga tatgaatttc
      661 agcaatgagg acatgataag agaatttgac aatatggcta aggtgcagga tgagaagaga
      721 aaaagcaaac agaaattggg ggcgtttttg tggatgcaaa gaaatttaca ggaccccttc
      781 taccctagag gtccaaggga attcaggggt ggctgcaggg ccccacgaag ggacattgaa
      841 gacattcctt atgtgtagtg tccctggcag gcatttacca ggccatgtgc tttaacgtta
      901 cggtaatact ttactttagg catccctcct gttgctagca gccttttgac ctatctgcaa
      961 tgcagtgttc tcagtaggaa atgttcatct gttacatgga aaaaatgttg atggtgcatt
     1021 gtaaaattaa aaaacacaac ttgcagaacc aaatatatgg catcagtaca tttttgtaaa
     1081 actacaaaga tacttaccta gtaatatagt atagaaaaca attctgaaag ctgtgtccac
     1141 taaaagatta acagtggtta tctctgggtg attttttctg ttcttttttg ttcatctgtc
     1201 catttttctc ctaaaaacag atttctttag tcataaaaat aataaaatat aaagtattgg
     1261 aaaa
//
LOCUS       NM_001007               1474 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S4 X-linked (RPS4X), mRNA.
ACCESSION   NM_001007
VERSION     NM_001007.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1474)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   2  (bases 1 to 1474)
  AUTHORS   Li Y, Zhang J, Sun H, Chen Y, Li W, Yu X, Zhao X, Zhang L, Yang J,
            Xin W, Jiang Y, Wang G, Shi W and Zhu D.
  TITLE     lnc-Rps4l-encoded peptide RPS4XL regulates RPS6 phosphorylation and
            inhibits the proliferation of PASMCs caused by hypoxia
  JOURNAL   Mol Ther 29 (4), 1411-1424 (2021)
   PUBMED   33429084
  REMARK    GeneRIF: lnc-Rps4l-encoded peptide RPS4XL regulates RPS6
            phosphorylation and inhibits the proliferation of PASMCs caused by
            hypoxia.
REFERENCE   3  (bases 1 to 1474)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1474)
  AUTHORS   Paquet ER, Hovington H, Brisson H, Lacombe C, Larue H, Tetu B,
            Lacombe L, Fradet Y and Lebel M.
  TITLE     Low level of the X-linked ribosomal protein S4 in human urothelial
            carcinomas is associated with a poor prognosis
  JOURNAL   Biomark Med 9 (3), 187-197 (2015)
   PUBMED   25731206
  REMARK    GeneRIF: Low RPS4X expression is associated with poor
            disease-specific and recurrence-free survival in bladder cancer
REFERENCE   5  (bases 1 to 1474)
  AUTHORS   Jefferson M, Donaszi-Ivanov A, Pollen S, Dalmay T, Saalbach G and
            Powell PP.
  TITLE     Host factors that interact with the pestivirus N-terminal protease,
            Npro, are components of the ribonucleoprotein complex
  JOURNAL   J Virol 88 (18), 10340-10353 (2014)
   PUBMED   24965446
REFERENCE   6  (bases 1 to 1474)
  AUTHORS   Matoba R, Okubo K, Hori N, Fukushima A and Matsubara K.
  TITLE     The addition of 5'-coding information to a 3'-directed cDNA library
            improves analysis of gene expression
  JOURNAL   Gene 146 (2), 199-207 (1994)
   PUBMED   8076819
REFERENCE   7  (bases 1 to 1474)
  AUTHORS   Zinn AR, Alagappan RK, Brown LG, Wool I and Page DC.
  TITLE     Structure and function of ribosomal protein S4 genes on the human
            and mouse sex chromosomes
  JOURNAL   Mol Cell Biol 14 (4), 2485-2492 (1994)
   PUBMED   8139551
REFERENCE   8  (bases 1 to 1474)
  AUTHORS   Watanabe M, Furuno N, Goebl M, Go M, Miyauchi K, Sekiguchi T,
            Basilico C and Nishimito T.
  TITLE     Molecular cloning of the human gene, CCG2, that complements the
            BHK-derived temperature-sensitive cell cycle mutant tsBN63: identity
            of CCG2 with the human X chromosomal SCAR/RPS4X gene
  JOURNAL   J Cell Sci 100 (Pt 1), 35-43 (1991)
   PUBMED   1795030
REFERENCE   9  (bases 1 to 1474)
  AUTHORS   Fisher EM, Beer-Romero P, Brown LG, Ridley A, McNeil JA, Lawrence
            JB, Willard HF, Bieber FR and Page DC.
  TITLE     Homologous ribosomal protein genes on the human X and Y chromosomes:
            escape from X inactivation and possible implications for Turner
            syndrome
  JOURNAL   Cell 63 (6), 1205-1218 (1990)
   PUBMED   2124517
REFERENCE   10  (bases 1 to 1474)
  AUTHORS   Wiles MV, Alexander CM and Goodfellow PN.
  TITLE     Isolation of an abundantly expressed sequence from the human X
            chromosome by differential screening
  JOURNAL   Somat Cell Mol Genet 14 (1), 31-39 (1988)
   PUBMED   2829364
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.43996.1,
            SRR5189658.132986.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142348,
            SAMEA2151358 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000316084.10/ ENSP00000362744.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AL135749.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001007.4.
            Summary: Cytoplasmic ribosomes, organelles that catalyze protein
            synthesis, consist of a small 40S subunit and a large 60S subunit.
            Together these subunits are composed of 4 RNA species and
            approximately 80 structurally distinct proteins. This gene encodes
            ribosomal protein S4, a component of the 40S subunit. Ribosomal
            protein S4 is the only ribosomal protein known to be encoded by
            more than one gene, namely this gene and ribosomal protein S4,
            Y-linked (RPS4Y). The 2 isoforms encoded by these genes are not
            identical, but are functionally equivalent. Ribosomal protein S4
            belongs to the S4E family of ribosomal proteins. This gene is not
            subject to X-inactivation. It has been suggested that
            haploinsufficiency of the ribosomal protein S4 genes plays a role
            in Turner syndrome; however, this hypothesis is controversial. As
            is typical for genes encoding ribosomal proteins, there are
            multiple processed pseudogenes of this gene dispersed through the
            genome. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1474
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..1474
                     /gene="RPS4X"
                     /gene_synonym="CCG2; DXS306; eS4; RPS4; S4; SCAR; SCR10"
                     /note="ribosomal protein S4 X-linked"
                     /db_xref="GeneID:6191"
                     /db_xref="HGNC:HGNC:10424"
                     /db_xref="MIM:312760"
     CDS             54..845
                     /gene="RPS4X"
                     /gene_synonym="CCG2; DXS306; eS4; RPS4; S4; SCAR; SCR10"
                     /note="single-copy abundant mRNA; cell cycle gene 2; single
                     copy abundant mRNA protein; small ribosomal subunit protein
                     eS4; 40S ribosomal protein S4"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS4, X isoform"
                     /protein_id="NP_000998.1"
                     /db_xref="CCDS:CCDS14418.1"
                     /db_xref="GeneID:6191"
                     /db_xref="HGNC:HGNC:10424"
                     /db_xref="MIM:312760"
                     /translation="MARGPKKHLKRVAAPKHWMLDKLTGVFAPRPSTGPHKLRECLPLI
                     IFLRNRLKYALTGDEVKKICMQRFIKIDGKVRTDITYPAGFMDVISIDKTGENFRLIYD
                     TKGRFAVHRITPEEAKYKLCKVRKIFVGTKGIPHLVTHDARTIRYPDPLIKVNDTIQID
                     LETGKITDFIKFDTGNLCMVTGGANLGRIGVITNRERHPGSFDVVHVKDANGNSFATRL
                     SNIFVIGKGNKPWISLPRGKGIRLTIAEERDKRLAAKQSSG"
     misc_feature    750..752
                     /gene="RPS4X"
                     /gene_synonym="CCG2; DXS306; eS4; RPS4; S4; SCAR; SCR10"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P62702; propagated from
                     UniProtKB/Swiss-Prot (P62701.2); acetylation site"
     regulatory      884..889
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS4X"
                     /gene_synonym="CCG2; DXS306; eS4; RPS4; S4; SCAR; SCR10"
                     /note="hexamer: ATTAAA"
     polyA_site      913
                     /gene="RPS4X"
                     /gene_synonym="CCG2; DXS306; eS4; RPS4; S4; SCAR; SCR10"
                     /note="major polyA site"
     regulatory      1323..1328
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS4X"
                     /gene_synonym="CCG2; DXS306; eS4; RPS4; S4; SCAR; SCR10"
                     /note="hexamer: ATTAAA"
     regulatory      1335..1340
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS4X"
                     /gene_synonym="CCG2; DXS306; eS4; RPS4; S4; SCAR; SCR10"
                     /note="hexamer: CATAAA"
     polyA_site      1345
                     /gene="RPS4X"
                     /gene_synonym="CCG2; DXS306; eS4; RPS4; S4; SCAR; SCR10"
     polyA_site      1363
                     /gene="RPS4X"
                     /gene_synonym="CCG2; DXS306; eS4; RPS4; S4; SCAR; SCR10"
     regulatory      1449..1454
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS4X"
                     /gene_synonym="CCG2; DXS306; eS4; RPS4; S4; SCAR; SCR10"
                     /note="hexamer: CATAAA"
     polyA_site      1474
                     /gene="RPS4X"
                     /gene_synonym="CCG2; DXS306; eS4; RPS4; S4; SCAR; SCR10"
ORIGIN
        1 aatttctacg cgcaccggaa gacggaggtc ctctttcctt gcctaacgca gccatggctc
       61 gtggtcccaa gaagcatctg aagcgggtgg cagctccaaa gcattggatg ctggataaat
      121 tgaccggtgt gtttgctcct cgtccatcca ccggtcccca caagttgaga gagtgtctcc
      181 ccctcatcat tttcctgagg aacagactta agtatgccct gacaggagat gaagtaaaga
      241 agatttgcat gcagcggttc attaaaatcg atggcaaggt ccgaactgat ataacctacc
      301 ctgctggatt catggatgtc atcagcattg acaagacggg agagaatttc cgtctgatct
      361 atgacaccaa gggtcgcttt gctgtacatc gtattacacc tgaggaggcc aagtacaagt
      421 tgtgcaaagt gagaaagatc tttgtgggca caaaaggaat ccctcatctg gtgactcatg
      481 atgcccgcac catccgctac cccgatcccc tcatcaaggt gaatgatacc attcagattg
      541 atttggagac tggcaagatt actgatttca tcaagttcga cactggtaac ctgtgtatgg
      601 tgactggagg tgctaaccta ggaagaattg gtgtgatcac caacagagag aggcaccctg
      661 gatcttttga cgtggttcac gtgaaagatg ccaatggcaa cagctttgcc actcgacttt
      721 ccaacatttt tgttattggc aagggcaaca aaccatggat ttctcttccc cgaggaaagg
      781 gtatccgcct caccattgct gaagagagag acaaaagact ggcggccaaa cagagcagtg
      841 ggtgaaatgg gtccctgggt gacatgtcag atctttgtac gtaattaaaa atattgtggc
      901 aggattaata gcattttggt tttgtgggtt gttttttttt ttaattcagt ttcctgctat
      961 tttactgtat aacatgaaca gtgattaagt tctcaggcag gcttaggcag tctgttattg
     1021 gctgggctta gttagtggtg ggaagtagaa gataccagac ttgggaaagg aacagcaact
     1081 aaccaaggag tagaaagagc caagaaatcc cggagtattt atctcccccg ccttgacttg
     1141 gccaagaact tctctacaca gtggacccct ctgccctgtt aagttccctt ggctttctaa
     1201 aaatctgccc tcattttctt ctccagtctg tattgcacta gcccatccac aagcctggct
     1261 catctgtttt tcccactcct gtgcccatct tgccaaacgc aggatgaaaa tctccagttg
     1321 ccattaaagg tggtcataaa tgggctgttg atgttgcaaa gcattgcagt tccttggact
     1381 tagtgccctt attctccagc tgccgctgca gtcctcaact ctgtttttca gaggacagag
     1441 atgtagaaca taaacttgtt cttgcttgtc caaa
//
LOCUS       NM_001007025            5987 bp    mRNA    linear   PRI 26-JUN-2023
DEFINITION  Homo sapiens golgi SNAP receptor complex member 1 (GOSR1),
            transcript variant 2, mRNA.
ACCESSION   NM_001007025
VERSION     NM_001007025.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5987)
  AUTHORS   Li M, Liu R, Zhao Y and Liu P.
  TITLE     Diverse Role of SNARE Protein GS28 in Vesicle Trafficking and
            Diseases
  JOURNAL   Curr Protein Pept Sci 24 (4), 288-295 (2023)
   PUBMED   36924089
  REMARK    GeneRIF: Diverse Role of SNARE Protein GS28 in Vesicle Trafficking
            and Diseases. Review article
REFERENCE   2  (bases 1 to 5987)
  AUTHORS   Lee SH, Yoo HJ, Rim DE, Cui Y, Lee A, Jung ES, Oh ST, Kim JG, Kwon
            OJ, Kim SY and Jeong SW.
  TITLE     Nuclear Expression of GS28 Protein: A Novel Biomarker that Predicts
            Prognosis in Colorectal Cancers
  JOURNAL   Int J Med Sci 14 (6), 515-522 (2017)
   PUBMED   28638266
  REMARK    GeneRIF: these results indicate that GS28 nuclear predominant
            expression could serve as a prognostic marker for colorectal cancer
            (CRC) and may help in identifying aggressive forms of CRC
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5987)
  AUTHORS   Cho U, Kim HM, Park HS, Kwon OJ, Lee A and Jeong SW.
  TITLE     Nuclear Expression of GS28 Protein: A Novel Biomarker that Predicts
            Worse Prognosis in Cervical Cancers
  JOURNAL   PLoS One 11 (9), e0162623 (2016)
   PUBMED   27611086
  REMARK    GeneRIF: High nuclear expression of GS28 is associated with poor
            prognosis in early-stage cervical cancer patients. GS28 might be a
            novel prognostic marker and a potential therapeutic target in
            cervical cancer treatment. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5987)
  AUTHORS   Fusella A, Micaroni M, Di Giandomenico D, Mironov AA and
            Beznoussenko GV.
  TITLE     Segregation of the Qb-SNAREs GS27 and GS28 into Golgi vesicles
            regulates intra-Golgi transport
  JOURNAL   Traffic 14 (5), 568-584 (2013)
   PUBMED   23387339
  REMARK    GeneRIF: Golgi vesicles, presumably with COPI, serve to inhibit
            intra-Golgi transport by the extraction of GS27 and GS28 from the
            Golgi cisternae, which blocks the formation of inter-cisternal
            connections
REFERENCE   5  (bases 1 to 5987)
  AUTHORS   Sun NK, Huang SL, Chien KY and Chao CC.
  TITLE     Golgi-SNARE GS28 potentiates cisplatin-induced apoptosis by forming
            GS28-MDM2-p53 complexes and by preventing the ubiquitination and
            degradation of p53
  JOURNAL   Biochem J 444 (2), 303-314 (2012)
   PUBMED   22397410
  REMARK    GeneRIF: GS28 may potentiate cells to DNA-damage-induced apoptosis
            by inhibiting the ubiquitination and degradation of p53.
REFERENCE   6  (bases 1 to 5987)
  AUTHORS   Bui TD, Levy ER, Subramaniam VN, Lowe SL and Hong W.
  TITLE     cDNA characterization and chromosomal mapping of human golgi SNARE
            GS27 and GS28 to chromosome 17
  JOURNAL   Genomics 57 (2), 285-288 (1999)
   PUBMED   10198168
REFERENCE   7  (bases 1 to 5987)
  AUTHORS   Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu
            BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ and Chen Z.
  TITLE     Identification of genes expressed in human CD34(+) hematopoietic
            stem/progenitor cells by expressed sequence tags and efficient
            full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 95 (14), 8175-8180 (1998)
   PUBMED   9653160
REFERENCE   8  (bases 1 to 5987)
  AUTHORS   Tang BL, Low DY, Lee SS, Tan AE and Hong W.
  TITLE     Molecular cloning and localization of human syntaxin 16, a member of
            the syntaxin family of SNARE proteins
  JOURNAL   Biochem Biophys Res Commun 242 (3), 673-679 (1998)
   PUBMED   9464276
REFERENCE   9  (bases 1 to 5987)
  AUTHORS   Subramaniam VN, Peter F, Philp R, Wong SH and Hong W.
  TITLE     GS28, a 28-kilodalton Golgi SNARE that participates in ER-Golgi
            transport
  JOURNAL   Science 272 (5265), 1161-1163 (1996)
   PUBMED   8638159
REFERENCE   10  (bases 1 to 5987)
  AUTHORS   Nagahama M, Orci L, Ravazzola M, Amherdt M, Lacomis L, Tempst P,
            Rothman JE and Sollner TH.
  TITLE     A v-SNARE implicated in intra-Golgi transport
  JOURNAL   J Cell Biol 133 (3), 507-516 (1996)
   PUBMED   8636227
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.363494.1,
            SRR5189667.114343.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000451249.7/ ENSP00000414441.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK000606.1, BE785872.1,
            BC040471.1, CB054624.1, BC040072.2, AK074298.1 and AC011840.7.
            On Jun 2, 2019 this sequence version replaced NM_001007025.1.
            Summary: This gene encodes a trafficking membrane protein which
            transports proteins among the endoplasmic reticulum and the Golgi
            and between Golgi compartments. This protein is considered an
            essential component of the Golgi SNAP receptor (SNARE) complex.
            Alternatively spliced transcript variants encoding distinct
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (2) lacks an in-frame small
            segment of 6 nts in the 5' coding region, as compared to variant 1.
            The encoded isoform 2 thus lacks internal 2 aa, as compared to
            isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5987
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..5987
                     /gene="GOSR1"
                     /gene_synonym="GOLIM2; GOS-28; GOS28; GOS28/P28; GS28; P28"
                     /note="golgi SNAP receptor complex member 1"
                     /db_xref="GeneID:9527"
                     /db_xref="HGNC:HGNC:4430"
                     /db_xref="MIM:604026"
     misc_feature    9..11
                     /gene="GOSR1"
                     /gene_synonym="GOLIM2; GOS-28; GOS28; GOS28/P28; GS28; P28"
                     /note="upstream in-frame stop codon"
     CDS             27..773
                     /gene="GOSR1"
                     /gene_synonym="GOLIM2; GOS-28; GOS28; GOS28/P28; GS28; P28"
                     /note="isoform 2 is encoded by transcript variant 2; Golgi
                     SNARE 28 kDa; golgi integral membrane protein 2; 28 kDa
                     cis-Golgi SNARE p28; cis-golgi SNARE; 28 kDa Golgi SNARE
                     protein"
                     /codon_start=1
                     /product="Golgi SNAP receptor complex member 1 isoform 2"
                     /protein_id="NP_001007026.1"
                     /db_xref="CCDS:CCDS45643.1"
                     /db_xref="GeneID:9527"
                     /db_xref="HGNC:HGNC:4430"
                     /db_xref="MIM:604026"
                     /translation="MAAGTSSYWEDLRKQARQLENELDLKLVSFSKLCTSYSHSSTRDG
                     RRDSSDTTPLLNGSSQDRMFETMAIEIEQLLARLTGVNDKMAEYTNSAGVPSLNAALMH
                     TLQRHRDILQDYTHEFHKTKANFMAIRERENLMGSVRKDIESYKSGSGVNNRRTELFLK
                     EHDHLRNSDRLIEETISIAMATKENMTSQRGMLKSIHSKMNTLANRFPAVNSLIQRINL
                     RKRRDSLILGGVIGICTILLLLYAFH"
     misc_feature    30..32
                     /gene="GOSR1"
                     /gene_synonym="GOLIM2; GOS-28; GOS28; GOS28/P28; GS28; P28"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (O95249.1); acetylation site"
     misc_feature    441..443
                     /gene="GOSR1"
                     /gene_synonym="GOLIM2; GOS-28; GOS28; GOS28/P28; GS28; P28"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95249.1); phosphorylation site"
     misc_feature    708..770
                     /gene="GOSR1"
                     /gene_synonym="GOLIM2; GOS-28; GOS28; GOS28/P28; GS28; P28"
                     /note="propagated from UniProtKB/Swiss-Prot (O95249.1);
                     transmembrane region"
     regulatory      4004..4009
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GOSR1"
                     /gene_synonym="GOLIM2; GOS-28; GOS28; GOS28/P28; GS28; P28"
                     /note="hexamer: AATAAA"
     polyA_site      4027
                     /gene="GOSR1"
                     /gene_synonym="GOLIM2; GOS-28; GOS28; GOS28/P28; GS28; P28"
                     /note="major polyA site"
     regulatory      5188..5193
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GOSR1"
                     /gene_synonym="GOLIM2; GOS-28; GOS28; GOS28/P28; GS28; P28"
                     /note="hexamer: AATAAA"
     polyA_site      5209
                     /gene="GOSR1"
                     /gene_synonym="GOLIM2; GOS-28; GOS28; GOS28/P28; GS28; P28"
                     /note="major polyA site"
ORIGIN
        1 atcccggctg acgttggacg acaaagatgg cggcagggac cagcagttac tgggaagatc
       61 tcaggaaaca ggctcgacag ctggaaaatg aacttgacct gaaactagtt tccttcagca
      121 aactatgtac aagttacagt catagcagta cccgagatgg aagacgcgac agttctgata
      181 caacacccct tttaaatgga tcaagccaag acagaatgtt tgagacaatg gcgattgaga
      241 ttgaacaact tttggcaagg cttacagggg taaatgataa aatggcagaa tataccaaca
      301 gtgcaggtgt cccctccttg aatgcagccc tgatgcatac attacagcgg catagagaca
      361 tattgcagga ttatacacat gaattccata aaaccaaagc aaactttatg gcaatacggg
      421 aaagggagaa tcttatggga tcagtacgaa aagatattga gtcatataaa agtgggtctg
      481 gagtaaacaa cagaagaact gagctatttt tgaaagaaca tgaccacctt cgaaactcag
      541 atcgtctgat agaagagaca ataagcattg ctatggcaac aaaagaaaat atgacttcac
      601 agagaggaat gttgaagtca attcacagca aaatgaacac tttggccaat cgttttcctg
      661 ctgtaaacag cctgatccag aggatcaacc tgaggaagcg gcgggactcg ctcatcctag
      721 ggggtgttat tgggatctgt accatcctgt tgctgctgta tgcgttccat tgatgggaca
      781 tcttcaggga ctcttgacag ccaccgcttt cacaccctgg tctggaataa ggaaacatcg
      841 gagggagaag ttgactgtct tgataattag cctgaccagc aggatgaatg caagactgac
      901 agtgatggac tctgtgacat ggtcaggttg agctgaagcc acagtttctc tgtgctgtgt
      961 tttctaacac atttttctgt ttttaattaa aaaaaaaaaa aaaaggtttt cagttgcttt
     1021 tgtctcccta ggaggcaggt aaaccaatca aaaacagagt tttctgtgtt tccatgatag
     1081 tgttgaagcc taatgacaag ccaggtctta cagctgggct cttcagaaaa ccaggtttct
     1141 acatccaaag actgcttttc ttttagctgc cagattggat tgtgaataaa aataattctt
     1201 ccctctccct ctccctctcc ccacggtctc cctctttcca cggtctccct ctgatgccga
     1261 gccgaagctg gactgtactg ctgccatctc ggctcactgc aacctccctg cctgattctc
     1321 ctgcctcagc ctgccgagtg cctgcaattg caggcgagcg ccgccacgcc tgactgcctc
     1381 ggcctcccga ggtgccggga ttgcagacgg agtctcgttc actcagtgct caatggtgcc
     1441 caggctggag tgcagtggcg tgatctcggc tcactacaac ctccacctcc cagccacctg
     1501 ccttggcctc ccaaagtgcc gagattgcag cctctgcccg gccgccaccc cgtctggaaa
     1561 gtgaggagcg cctctgcccg gccgccatcc catctaggaa gtgaggagcg cctcttccca
     1621 gccgccatcc catctaggaa gtgaggagcg tctctgcccg gccgcccatc gtctgagatg
     1681 tggggagcgc ctctgccccg ccgccccgtc tgggatgtga ggagctcctc tgcccggccg
     1741 cgaccccgtc tgggaggtga ggagcgtctc tgtctggcca ccccgtctga gaagtgagga
     1801 gacctccgcc cggcagccgc cctgtctgag aagtgaggag cccctccgcc cggcagccac
     1861 cccatctggg aagtgaggag cgtctacgcc cgggcagctg ccccgtccgg gagggaggtg
     1921 ggggggtcag ccccccgccc ggccagccgc cccgtccggg agggaggtgg gggggatcag
     1981 ccccccgccc ggccagccgc cccgtccggg agggaggtgg ggggcgcctc tgcccggccg
     2041 cccctgcccg gccgccccta ctgggaagtg aggagcccct ctgcctggcc accaccccat
     2101 ctgggaggtg tgcccagcag ctcattgaga acgggccatg atgacaatgg cggttttgtg
     2161 gaatagaaaa ggcggaaagg tggggaaaag attgagaaat tggatggttg ccgtgtctgt
     2221 gtagaaagaa gtagacatgg gagacttttc attttgttct gtactaagaa aaattcttct
     2281 gccttgggat cctgttgatc tatgacctta cccccaacct ggtgctctct gaaacatgtg
     2341 ctgtgtccac tcagggttaa atggattaag ggtggtgcaa gatgtgcttt gttaaacaga
     2401 tgcttgaagg cagcatgctc cttaagagtc atcaccactc cctaatctca agtacccagg
     2461 gacacaaaca ctgcggaagg cggcagggtc ctctgcctag gaaaaccaga gacctttgtt
     2521 cacttgttga tctgctgacc ttccctccac tattgtccta tgaccctgcc aaatccccct
     2581 ctgcgagaaa cacccaagaa tgatcaatta aaaaaaaaat aatataataa taattcttgt
     2641 cctcttattt tacactcata atgagaaatc acaagttctt tcttgatgat ctgtgctata
     2701 gatttctact ctgtctcctc aactctgttg atatttgggg aaaattctgt ttttcataga
     2761 ttctttgaga tgctgatgga ccagcttcag catgtttgag gttgtctgaa atggagatca
     2821 ctgtaaaact gtctttttct tttaaattac aagtacactg gggttaactg tattgctgga
     2881 aaaacatcaa gaatgacagt cttatattta aggcaccagt cattgtttcc attttttttt
     2941 taattcttcc cttggattaa tattttctac tgaaaagaaa tgaaatctca gttccactat
     3001 gataaaagaa acgaatcacc agtgtctgtc agtgccccca ctgctcctcc tcataccagc
     3061 attgacactg gtagctgagg aaggggactg ctcaatttct aatgtgatct attcaagaag
     3121 ccacatataa aaaggcattg agggctcact gtccagagaa ttgcttttgt aaatgctcca
     3181 caacgtatgg gcaaaagttt aaggactact gcctgatgta ccaggaatcc tgagttctgt
     3241 gaaaatctgt tcattccaaa tctgttaagc atttccaaac atccagagaa tggtttcact
     3301 gttgagggtg catgtggcag aatctgtctc tctctgcacc tgtcttctgt taccatccct
     3361 ggacagtgac agattttaag ccagccacca gaattctttt cgagttaacc atttcttagt
     3421 ttctgtaaat tcatgacttg tcttactgaa ctacagcctg gtttgtagac ttccaacatc
     3481 tacactgctg ctcttcacca ttggaattca ctgtggtatt tatagtattg gcttcagtcc
     3541 gagccacagg caataaaagg atatcagctg tagttctcag ctacatcatg gtgtatagat
     3601 gctgttattc aggcgaactt gctcatgggt ggactaacac ctggtttggt acagagactg
     3661 agaagttttt cattctggtg tcaaagtttt gttacattat gggtgtgaag ggcatttgat
     3721 atatttttct taactatggg gtttattttt ctaaatgtgg gttgattgac tgttaattga
     3781 ttcagggtac ccttaaaaga aaagaagttt tcccattgtg aaccttaaat gatcagagaa
     3841 gtaagttcat tgattaaatt ctctgttggg agaacaaaac ttttctccct tgacacttta
     3901 ttatctttga tttttcaaag ggccttgatt ggtggttgtg tctcggttaa aatttatggg
     3961 actttgctat gtagttggca tttataaaat ctgaagtatc ataaataaag ttatttattt
     4021 aattatacta ccagtctttt ttactggtct gattcttttg tgcattcatt aaagctgatt
     4081 gtgtgagagt gaactgggac acaagctagt ctagctcact gcagccaagc aaaccctgtt
     4141 gatggctgat gggcctttcc attagggttt tgcttatgtg aagtaatgga attatgttgg
     4201 ttattttctt tatgaaaata aaccagttct tccaaggaag ttaaaaggct tggtatggat
     4261 gttggtgtca gataggtctg actaacctct ccgtgctgca gcctatacta aggtgaccca
     4321 gggccacatg tagacagcta ggccagtgct ttttcctctt agggtttctt tgcagaaaga
     4381 aacctccagc aagggaagag aggtgtgtgt ccacaggaag gggctccgtg gggatcccat
     4441 gaagggattt gagctctttc agctccatgt catttaactt ttttgtttaa ccaccttggc
     4501 tttctctcct tttttgctgt cctccttacg gaccagttac cagattcaga ggctaacagt
     4561 tagttacttg ttaatgctag tcacagccag gaggtcagaa ggaattttct acttctggat
     4621 ccaaatgtta cctcttaggg gaagttatgc cccctcaact attgtcttat tataatgaat
     4681 ctttcctttt tggtcctttt aagtaaccac tcaaaacttt tcatttcact gaaaaaatat
     4741 gaaaaaccat gacaataggg ctgggtgcag tggctcacgc ctgtaatctt agcactttgg
     4801 gagaccaagg caggcggatc gtttgaggcc aggagtttga gaccagcctg ggcaatgtag
     4861 caagactctg tctctgcaaa aaaaattaaa agatacctga gagctcactt taatatcaag
     4921 gtatttgcat ccattcccac cctgttagct cttaagggag gagggaaatc aattccaacc
     4981 atactttcct gtgatggaag atgtttcctc ttgaaaaaat gccaatacag atttttaaaa
     5041 cctattgttt tccaaatgca ctttgtaagt ttttgctttt aaaatagctt cttggaacca
     5101 attttattgt atttgtactt aatttttgtt ctcatctaaa tgtgcatttt ctgactgtat
     5161 agaagaagct ttggtatgta atttaataat aaattagaaa tctaaatgat tgcatttgta
     5221 attgtttata ttgaaacagt aaccatcaag gtagtttggg gatagagatt atggtatctc
     5281 tggtgttgat aagtgtttct catgatgtcc tgaaacccag gatgaaataa tacaggtgct
     5341 gaaaagctgt cacatgtcat tcagaaacca tcatatgaac agtccactag tattttagcc
     5401 ctagaagtga aggggaatct cttaacatga aacttcagga ggcataatgg gaatctacaa
     5461 ttgtagaatt ggctgggtgc agtggctaac acctgtaatc ccagcagttc gagaggccga
     5521 ggcaggagga ttgcttgaga ccagggattt gagaccagtc tgggcaacac agcaaagacc
     5581 ttgtctctac aaaaactaaa attagccatt catgatggtg tgcacctata gtcccagcta
     5641 ctcggaaggc tgaggtagga ggatcatgag cccaggaggt caaggctgca gtaagcaacg
     5701 attgtgccac tgtactccag cctgggtgac agagaccctg tctcaaaaat aaattaattt
     5761 tttaaaaatc gtgtactgct gggctttagt acattagttg tgcaaccagc cccactgtct
     5821 aattttagag ctttgcaatt aatccagcca gtgatcaatt cctcttctat aaaatggtga
     5881 taaggatggc taccataatt gtgccctgat tatattgtca gggttatgtg aggaaatgct
     5941 cataagcatc tcagcaaagc caggggtaca gggctcacct gacataa
//
LOCUS       NM_001007033            1646 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens C-type lectin domain containing 6A (CLEC6A), transcript
            variant 1, mRNA.
ACCESSION   NM_001007033
VERSION     NM_001007033.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1646)
  AUTHORS   Haider MJA, Albaqsumi Z, Al-Mulla F, Ahmad R and Al-Rashed F.
  TITLE     SOCS3 Regulates Dectin-2-Induced Inflammation in PBMCs of Diabetic
            Patients
  JOURNAL   Cells 11 (17), 2670 (2022)
   PUBMED   36078084
  REMARK    GeneRIF: SOCS3 Regulates Dectin-2-Induced Inflammation in PBMCs of
            Diabetic Patients. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1646)
  AUTHORS   Thiem K, Hoeke G, Zhou E, Hijmans A, Houben T, Boels MG, Mol IM,
            Lutgens E, Shiri-Sverdlov R, Bussink J, Kanneganti TD, Boon MR,
            Stienstra R, Tack CJ, Rensen PC, Netea MG, Berbee JF and van Diepen
            JA.
  TITLE     Deletion of haematopoietic Dectin-2 or CARD9 does not protect from
            atherosclerosis development under hyperglycaemic conditions
  JOURNAL   Diab Vasc Dis Res 17 (1), 1479164119892140 (2020)
   PUBMED   31868000
  REMARK    GeneRIF: Deletion of haematopoietic Dectin-2 did not influence
            atherosclerosis development under hyperglycaemic conditions, despite
            some minor effects on inflammation.
REFERENCE   3  (bases 1 to 1646)
  AUTHORS   Roesner LM, Ernst M, Chen W, Begemann G, Kienlin P, Raulf MK,
            Lepenies B and Werfel T.
  TITLE     Human thioredoxin, a damage-associated molecular pattern and
            Malassezia-crossreactive autoallergen, modulates immune responses
            via the C-type lectin receptors Dectin-1 and Dectin-2
  JOURNAL   Sci Rep 9 (1), 11210 (2019)
   PUBMED   31371767
  REMARK    GeneRIF: Human thioredoxin, a damage-associated molecular pattern
            and Malassezia-crossreactive autoallergen, modulates immune
            responses via the C-type lectin receptors Dectin-1 and Dectin-2.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1646)
  AUTHORS   Decout A, Silva-Gomes S, Drocourt D, Blattes E, Riviere M, Prandi J,
            Larrouy-Maumus G, Caminade AM, Hamasur B, Kallenius G, Kaur D, Dobos
            KM, Lucas M, Sutcliffe IC, Besra GS, Appelmelk BJ, Gilleron M,
            Jackson M, Vercellone A, Tiraby G and Nigou J.
  TITLE     Deciphering the molecular basis of mycobacteria and lipoglycan
            recognition by the C-type lectin Dectin-2
  JOURNAL   Sci Rep 8 (1), 16840 (2018)
   PUBMED   30443026
  REMARK    GeneRIF: dimannoside caps and multivalent interaction are required
            for ligand binding to and signaling via Dectin-2. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 1646)
  AUTHORS   Kaisar MMM, Ritter M, Del Fresno C, Jonasdottir HS, van der Ham AJ,
            Pelgrom LR, Schramm G, Layland LE, Sancho D, Prazeres da Costa C,
            Giera M, Yazdanbakhsh M and Everts B.
  TITLE     Dectin-1/2-induced autocrine PGE2 signaling licenses dendritic cells
            to prime Th2 responses
  JOURNAL   PLoS Biol 16 (4), e2005504 (2018)
   PUBMED   29668708
  REMARK    GeneRIF: Dectin-1/Dectin-2-induced autocrine PGE2 signaling licenses
            dendritic cells to prime Th2 responses. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 1646)
  AUTHORS   McGreal EP, Rosas M, Brown GD, Zamze S, Wong SY, Gordon S,
            Martinez-Pomares L and Taylor PR.
  TITLE     The carbohydrate-recognition domain of Dectin-2 is a C-type lectin
            with specificity for high mannose
  JOURNAL   Glycobiology 16 (5), 422-430 (2006)
   PUBMED   16423983
REFERENCE   7  (bases 1 to 1646)
  AUTHORS   Gavino AC, Chung JS, Sato K, Ariizumi K and Cruz PD Jr.
  TITLE     Identification and expression profiling of a human C-type lectin,
            structurally homologous to mouse dectin-2
  JOURNAL   Exp Dermatol 14 (4), 281-288 (2005)
   PUBMED   15810886
  REMARK    GeneRIF: human DECTIN-2 has a role in innate immunity
REFERENCE   8  (bases 1 to 1646)
  AUTHORS   Flornes LM, Bryceson YT, Spurkland A, Lorentzen JC, Dissen E and
            Fossum S.
  TITLE     Identification of lectin-like receptors expressed by antigen
            presenting cells and neutrophils and their mapping to a novel gene
            complex
  JOURNAL   Immunogenetics 56 (7), 506-517 (2004)
   PUBMED   15368084
REFERENCE   9  (bases 1 to 1646)
  AUTHORS   Kanazawa,N., Tashiro,K., Inaba,K., Lutz,M.B. and Miyachi,Y.
  TITLE     Molecular cloning of human dectin-2
  JOURNAL   J Invest Dermatol 122 (6), 1522-1524 (2004)
   PUBMED   15175046
REFERENCE   10  (bases 1 to 1646)
  AUTHORS   Kanazawa N, Tashiro K and Miyachi Y.
  TITLE     Signaling and immune regulatory role of the dendritic cell
            immunoreceptor (DCIR) family lectins: DCIR, DCAR, dectin-2 and
            BDCA-2
  JOURNAL   Immunobiology 209 (1-2), 179-190 (2004)
   PUBMED   15481152
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY321309.1, BC132935.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000382073.4/ ENSP00000371505.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092865.10 and AC092746.9.
            On May 17, 2019 this sequence version replaced NM_001007033.1.
            Summary: The protein encoded by this gene is a type II membrane
            receptor with an extracellular C-type lectin-like domain fold. The
            extracellular portion binds structures with a high mannose content
            and has been shown to recognize several pathogens, including C.
            elegans, S. cerevisiae, M. tuberculosis, C. neoformans, and house
            dust mite. When stimulated, the encoded protein initiates
            signalling through the CARD9-Bcl10-Malt1 pathway, leading to the
            induction of cytokines. Two transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Dec
            2015].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1646
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..1646
                     /gene="CLEC6A"
                     /gene_synonym="CLEC4N; CLECSF10; dectin-2; hDECTIN-2"
                     /note="C-type lectin domain containing 6A"
                     /db_xref="GeneID:93978"
                     /db_xref="HGNC:HGNC:14556"
                     /db_xref="MIM:613579"
     misc_feature    49..51
                     /gene="CLEC6A"
                     /gene_synonym="CLEC4N; CLECSF10; dectin-2; hDECTIN-2"
                     /note="upstream in-frame stop codon"
     CDS             151..780
                     /gene="CLEC6A"
                     /gene_synonym="CLEC4N; CLECSF10; dectin-2; hDECTIN-2"
                     /note="isoform 1 is encoded by transcript variant 1; C-type
                     (calcium dependent, carbohydrate-recognition domain)
                     lectin, superfamily member 10; dectin 2; DC-associated
                     C-type lectin 2; C-type lectin superfamily member 10;
                     dendritic cell-associated C-type lectin 2; C-type lectin
                     domain family 6 member A"
                     /codon_start=1
                     /product="C-type lectin domain family 6 member A isoform 1"
                     /protein_id="NP_001007034.1"
                     /db_xref="CCDS:CCDS31739.1"
                     /db_xref="GeneID:93978"
                     /db_xref="HGNC:HGNC:14556"
                     /db_xref="MIM:613579"
                     /translation="MMQEQQPQSTEKRGWLSLRLWSVAGISIALLSACFIVSCVVTYHF
                     TYGETGKRLSELHSYHSSLTCFSEGTKVPAWGCCPASWKSFGSSCYFISSEEKVWSKSE
                     QNCVEMGAHLVVFNTEAEQNFIVQQLNESFSYFLGLSDPQGNNNWQWIDKTPYEKNVRF
                     WHLGEPNHSAEQCASIVFWKPTGWGWNDVICETRRNSICEMNKIYL"
     misc_feature    211..273
                     /gene="CLEC6A"
                     /gene_synonym="CLEC4N; CLECSF10; dectin-2; hDECTIN-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6EIG7.1);
                     transmembrane region"
     misc_feature    541..543
                     /gene="CLEC6A"
                     /gene_synonym="CLEC4N; CLECSF10; dectin-2; hDECTIN-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6EIG7.1); glycosylation site"
     misc_feature    658..660
                     /gene="CLEC6A"
                     /gene_synonym="CLEC4N; CLECSF10; dectin-2; hDECTIN-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6EIG7.1); glycosylation site"
ORIGIN
        1 aatgttggaa gtctcttagt cctataagag tgtgtagcag tttgtccctg agctctagct
       61 tctttaaatg aagctgagtc tctgggcaac atctttaggg agagaggtac aaaaggttcc
      121 tggaccttct caacacaggg agcctgcata atgatgcaag agcagcaacc tcaaagtaca
      181 gagaaaagag gctggttgtc cctgagactc tggtctgtgg ctgggatttc cattgcactc
      241 ctcagtgctt gcttcattgt gagctgtgta gtaacttacc attttacata tggtgaaact
      301 ggcaaaaggc tgtctgaact acactcatat cattcaagtc tcacctgctt cagtgaaggg
      361 acaaaggtgc cagcctgggg atgttgccca gcttcttgga agtcatttgg ttccagttgc
      421 tacttcattt ccagtgaaga gaaggtttgg tctaagagtg agcagaactg tgttgagatg
      481 ggagcacatt tggttgtgtt caacacagaa gcagagcaga atttcattgt ccagcagctg
      541 aatgagtcat tttcttattt tctggggctt tcagacccac aaggtaataa taattggcaa
      601 tggattgata agacacctta tgagaaaaat gtcagatttt ggcacctagg tgagcccaat
      661 cattctgcag agcaatgtgc ttcaatagtc ttctggaaac ctacaggatg gggctggaat
      721 gatgttatct gtgaaactag aaggaattca atatgtgaga tgaataagat ttacctatga
      781 gtagaagctt aattggaaag aagagaagaa ttactgacgt aattttttcc ctgacgtctt
      841 taaaattgaa ccctatcatg aaatgataat ttcttcctga atttacacat aatccttatg
      901 ttatagaggt tcacagaaat ggaaagatac ctgtttccct ttaatcaatc ttctcgtttc
      961 ctcttttcca ttaatgatag aatgcaccct tcctctcttt gttccattct ttcacttgtt
     1021 attcattttt ttctttcttc acacttcatt acacaaatat ttattgtttc agagactgta
     1081 ctattttgtt tgttagaaga tttataaggc agtatctttt gaaaattatg actttccttc
     1141 ctcaatatac cataaagaaa tctttttggt caagatggta gttggaacta caatcatctg
     1201 aaggcctgac aagagttgaa agacatgttt tctagatggc tcactcacat ggctggcaac
     1261 ttggtgttgg ctattaatgt aacctggaaa taaattttat tctgcagtta gggatttggc
     1321 attttatata tgttgattca atcaagtttg gcaagcaggg tgttcgatac tgctatatcc
     1381 tgtattcttg gtttatttgt tttatttctg agaaatatgt gttaagatct ctcgctgatt
     1441 gggaatttgt ctatttctca tttaaatttt gtcaaatctt tctttgcttg caagcatttc
     1501 ttgttaccca aatctaatct attcctgaaa atatgatggt tagcaaagtt tgagataact
     1561 agagcctgta atccatcatt ttaaatggca atgataatga cagtttattt ttatgttata
     1621 taaaaacctc aacaaatttt ccaaac
//
LOCUS       NM_001007088            3499 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 2,
            mRNA.
ACCESSION   NM_001007088
VERSION     NM_001007088.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3499)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   2  (bases 1 to 3499)
  AUTHORS   Wang R, Cukerman E, Heng HH and Liew CC.
  TITLE     Localization of a novel zinc finger gene to the human chromosome
            7p11.2-p12 by fluorescence in situ hybridization
  JOURNAL   Somat Cell Mol Genet 22 (3), 237-239 (1996)
   PUBMED   8914609
REFERENCE   3  (bases 1 to 3499)
  AUTHORS   Knight JC, Grimaldi G, Thiesen HJ, Bech-Hansen NT, Fletcher CD and
            Coleman MP.
  TITLE     Clustered organization of Kruppel zinc-finger genes at Xp11.23,
            flanking a translocation breakpoint at OATL1: a physical map with
            locus assignments for ZNF21, ZNF41, ZNF81, and ELK1
  JOURNAL   Genomics 21 (1), 180-187 (1994)
   PUBMED   8088786
REFERENCE   4  (bases 1 to 3499)
  AUTHORS   Huebner K, Druck T, Croce CM and Thiesen HJ.
  TITLE     Twenty-seven nonoverlapping zinc finger cDNAs from human T cells map
            to nine different chromosomes with apparent clustering
  JOURNAL   Am J Hum Genet 48 (4), 726-740 (1991)
   PUBMED   2014798
REFERENCE   5  (bases 1 to 3499)
  AUTHORS   Thiesen HJ.
  TITLE     Multiple genes encoding zinc finger domains are expressed in human T
            cells
  JOURNAL   New Biol 2 (4), 363-374 (1990)
   PUBMED   2288909
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC114216.1, SRR1660805.231780.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000376943.8/ ENSP00000366142.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC244636.2, AK122874.1,
            CN311292.1, BX648401.1 and AW291763.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001007088.1.
            Summary: Zinc-finger proteins bind nucleic acids and play important
            roles in various cellular functions, including cell proliferation,
            differentiation, and apoptosis. This gene encodes a zinc finger
            protein, and belongs to the krueppel C2H2-type zinc-finger protein
            family. It may be involved in transcriptional regulation. Multiple
            alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, May 2010].
            Transcript Variant: This variant (2) lacks an internal exon in the
            5' region, resulting in an upstream AUG start codon, as compared to
            variant 1. The encoded isoform 2 is shorter and has an alternate
            N-terminus, as compared to isoform 1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3499
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..3499
                     /gene="ZNF182"
                     /gene_synonym="HHZ150; KOX14; Zfp182; ZNF21"
                     /note="zinc finger protein 182"
                     /db_xref="GeneID:7569"
                     /db_xref="HGNC:HGNC:13001"
                     /db_xref="MIM:314993"
     misc_feature    273..275
                     /gene="ZNF182"
                     /gene_synonym="HHZ150; KOX14; Zfp182; ZNF21"
                     /note="upstream in-frame stop codon"
     CDS             321..2183
                     /gene="ZNF182"
                     /gene_synonym="HHZ150; KOX14; Zfp182; ZNF21"
                     /note="isoform 2 is encoded by transcript variant 2; zinc
                     finger protein 21 (KOX 14); zinc finger protein KOX14"
                     /codon_start=1
                     /product="zinc finger protein 182 isoform 2"
                     /protein_id="NP_001007089.1"
                     /db_xref="CCDS:CCDS35235.1"
                     /db_xref="GeneID:7569"
                     /db_xref="HGNC:HGNC:13001"
                     /db_xref="MIM:314993"
                     /translation="MAKPQGLVTFEDVAVDFTQEEWQYLNPPQRTLYRDVMLETYSNLV
                     FVGQQVTKPNLILKLEVEECPAEGKIPFWNFPEVCQVDEQIERQHQDDQDKCLLMQVGF
                     SDKKTIITKSARDCHEFGNILHLSTNLVASIQRPDKHESFGNNMVDNLDLFSRSSAENK
                     YDNGCAKLFFHTEYEKTNPGMKPYGYKECGKGLRRKKGLSLHQRIKNGEKPFECTACRK
                     TFSKKSHLIVHWRTHTGEKPFGCTECGKAFSQKSQLIIHLRTHTGERPFECPECGKAFR
                     EKSTVIIHYRTHTGEKPYECNECGKAFTQKSNLIVHQKTHTGEKTYECTKCGESFIQKL
                     DLIIHHSTHTGKKPHECNECKKTFSDKSTLIIHQRTHTGEKPHKCTECGKSFNEKSTLI
                     VHQRTHTGEKPYECDVCGKTFTQKSNLGVHQRTHSGEKPFECNECEKAFSQKSYLMLHQ
                     RGHTGEKPYECNECEKAFSQKSYLIIHQRTHTEEKPYKCNECGKAFREKSKLIIHQRIH
                     TGEKPYECPVCWKAFSQKSQLIIHQRTHTGEKPYACTECGKAFREKSTFTVHQRTHTGE
                     KPYKCTECGKAFTQKSNLIVHQRTHAGKKAHGRGHTRKSKFMAH"
     regulatory      3479..3484
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF182"
                     /gene_synonym="HHZ150; KOX14; Zfp182; ZNF21"
                     /note="hexamer: AATAAA"
     polyA_site      3499
                     /gene="ZNF182"
                     /gene_synonym="HHZ150; KOX14; Zfp182; ZNF21"
                     /note="major polyA site"
ORIGIN
        1 cccgaagcgg aagtgcttgt tggggccagg ctttgtaacg gtctcctgag cagcgagcag
       61 aaaatctgtt atcgagagag acacagtgac ctgcccctaa aggttcatgc gcatccctca
      121 gacccctctt tagacgcgcc ccgcttctcc ctctgccctc tccccttgcc caagccccga
      181 ggtgggggcc tggtgtgaat gctccggccg aagtgaacct gcacccccgc acccgaaggc
      241 ctctttccgg cttctgggca aggcggcccc ggtgagctcg gccgtcacac atctctgctt
      301 tttcccaaga agagcaggaa atggccaaac cccaggggct agtgacattt gaagatgtag
      361 ctgtggattt cacccaggag gagtggcagt acctgaaccc accacagagg accctgtaca
      421 gagacgtgat gctggagacc tacagcaact tggtctttgt ggggcagcag gttaccaaac
      481 caaacctcat cctcaagttg gaggtagaag aatgcccggc agaaggaaaa atcccatttt
      541 ggaactttcc agaagtctgt caagttgatg aacagattga gaggcaacat caggatgacc
      601 aagataaatg tctgctgatg caagttggat tttctgacaa gaaaacaatt atcaccaaga
      661 gtgctcgtga ctgtcatgag tttggaaaca tacttcatct gagtacaaac cttgttgctt
      721 caatacaaag acccgataaa cacgaatcat ttggaaataa tatggtagat aatttagact
      781 tatttagtag aagttctgca gaaaataaat atgataatgg atgtgcaaaa ttgttcttcc
      841 atactgagta tgagaaaaca aatcctggaa tgaagcccta tggctataaa gagtgtggga
      901 aaggtcttag gcgaaagaaa ggccttagtc tacatcagag aattaaaaat ggagagaaac
      961 cctttgaatg tactgcatgt aggaaaacct tcagcaagaa gtcacacctc attgtacatt
     1021 ggagaactca tacgggagag aaaccttttg gatgtaccga atgtggaaaa gcttttagcc
     1081 aaaaatctca gctcattata cacttgcgaa ctcatacagg agagagaccc tttgagtgtc
     1141 ctgaatgtgg aaaagccttc agagaaaagt caactgtcat catacattac aggactcaca
     1201 caggagaaaa accttatgaa tgtaatgaat gtggaaaagc cttcactcag aagtccaacc
     1261 tcattgtcca tcagaaaacc cacactggag agaaaaccta tgaatgcact aaatgtggag
     1321 aatctttcat acagaagctt gatctaatta tacatcatag tacccataca ggaaagaaac
     1381 cccatgaatg taatgagtgt aagaaaactt tcagtgataa gtcaactctc attatacacc
     1441 agagaactca tacgggagag aaacctcata aatgtactga atgtgggaag tctttcaatg
     1501 agaagtcaac cctcattgtg catcaaagaa ctcatacagg agagaaaccc tatgaatgtg
     1561 atgtgtgtgg aaaaaccttc acgcaaaagt caaaccttgg tgtacatcag agaactcatt
     1621 caggagagaa accctttgaa tgtaatgaat gtgagaaagc cttctctcag aagtcctacc
     1681 tcatgctgca tcagagaggt catacaggag agaaacctta cgagtgcaat gaatgtgaaa
     1741 aagcattttc acagaaatca tatctcatta tacatcaaag aactcataca gaagaaaaac
     1801 cctataaatg taatgaatgt ggcaaagcct tcagagaaaa gtcaaagctc attatacatc
     1861 agagaattca tacaggagag aaaccttatg aatgtcctgt gtgttggaaa gcttttagcc
     1921 agaagtcaca gctcataata catcagagaa cgcacacggg agagaaaccc tatgcatgca
     1981 ctgagtgtgg caaagccttc cgagaaaagt caacattcac tgtacatcaa agaactcata
     2041 ctggagagaa accctataaa tgtacagaat gtgggaaagc ctttacccaa aaatcaaacc
     2101 ttattgtaca tcagcgaacc catgcaggaa agaaagccca tggaagaggc cacactcgga
     2161 agtcaaagtt catggcacat tagagagcta atcagcagta tctattatgg acactgaaag
     2221 aaagttgtgt caattttact cacattttaa aagtatattt tgacttgtgg tttaaatatg
     2281 ggagtaaatt cagcctttct tcttttcatc tcagtcataa cccaaaagct acgggagaaa
     2341 aagcagaagt gtaatctctg tatctgacaa aattaggaga cagctgcaac cctaatgaga
     2401 gggctgccac aggcagagga aatgaagcac tggtgcagga gatttcagag tgagagtgct
     2461 caaggctgca ggtgcaagac agcactggta aggactctta gctgaggttc gggatatacc
     2521 ccgaggcgcg gaaccataga tataacagtg gtaacagtgc gtgggcaggt aggaggtagg
     2581 atgtttccta gaccatttgg ggtctgagga gaaacaggct ggggcctcga gaaggagtca
     2641 ctcagacaag ccatattttt agaaagtagt ctactgatgg gagcaacagt tatggcatgc
     2701 tgggggaaga gaagggactt ttccttgtga agagccctac agctgcccct atttactgac
     2761 ttgggagaag taaagtcaga aagaacgaac agctgtgggg ggaaaaaatt ctcagttgtc
     2821 aaaaaaaaaa aaaactgatc tgcttagaat gtggccctgg tttcttttcc cacatgaacc
     2881 tccagcaaat agcaagtcca ggaaaaactc ttctcattca aagaggaatt attcaaaagt
     2941 aatcaaaacc acaaatgcat ttggtttttg ggccagcaat tccacttcta ggaatgtaca
     3001 tactcacaca tgtacaaaat gatgaacata cagtattcat taatgcagcg tttgtgaaaa
     3061 caaaagattg gaagctgttt aaatgacacc atatcagggt tctggttccc taaattgtgg
     3121 tatattcata cagcctactc ctgggtagac aacaatgaat aaataaggag aacttggaaa
     3181 ccatttatgt agtgatgtgg gataaccttc agtttatgtt attaggtagg aaaaataagg
     3241 ttgaggacag tgactgccat ttgtatataa aaaggagaaa aatggtaagt acataattgt
     3301 gaattcataa gttatctctg gaaagagaca tgagaacctg gtaaccctga ttaccttggg
     3361 aggggaaggg gcagtggtgg ctggggggat ggaattgaga gggagacaac tgtatccttt
     3421 catagctttt gaaaatgtgg gtgtactatg tactatgtgg atgtactacc ttttcaaaaa
     3481 taaaacattt aaaaagcta
//
LOCUS       NM_001007089             797 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens regulated endocrine specific protein 18 (RESP18), mRNA.
ACCESSION   NM_001007089
VERSION     NM_001007089.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 797)
  AUTHORS   Sosa L, Torkko JM, Primo ME, Llovera RE, Toledo PL, Rios AS, Flecha
            FL, Trabucchi A, Valdez SN, Poskus E, Solimena M and Ermacora MR.
  TITLE     Biochemical, biophysical, and functional properties of ICA512/IA-2
            RESP18 homology domain
  JOURNAL   Biochim Biophys Acta 1864 (5), 511-522 (2016)
   PUBMED   26836020
  REMARK    GeneRIF: RESP18HD is required for efficient sorting of ICA512 to
            secretory granules: RESP18HD is a key determinant for ICA512 granule
            targeting.
REFERENCE   2  (bases 1 to 797)
  AUTHORS   Huang Y, Xu J, Liang M, Hong X, Suo H, Liu J, Yu M and Huang F.
  TITLE     RESP18 is involved in the cytotoxicity of dopaminergic neurotoxins
            in MN9D cells
  JOURNAL   Neurotox Res 24 (2), 164-175 (2013)
   PUBMED   23319378
  REMARK    GeneRIF: Over-expression of RESP18 resulted in aggravated cell death
            induced by dopaminergic neurotoxins.
REFERENCE   3  (bases 1 to 797)
  AUTHORS   Zhang G, Hirai H, Cai T, Miura J, Yu P, Huang H, Schiller MR, Swaim
            WD, Leapman RD and Notkins AL.
  TITLE     RESP18, a homolog of the luminal domain IA-2, is found in dense core
            vesicles in pancreatic islet cells and is induced by high glucose
  JOURNAL   J Endocrinol 195 (2), 313-321 (2007)
   PUBMED   17951542
  REMARK    GeneRIF: RESP18 is a luminal protein of DCVs and its expression is
            regulated by exposure to glucose.
REFERENCE   4  (bases 1 to 797)
  AUTHORS   Bloomquist BT, Darlington DN, Mueller GP, Mains RE and Eipper BA.
  TITLE     Regulated endocrine-specific protein-18: a short-lived novel
            glucocorticoid-regulated endocrine protein
  JOURNAL   Endocrinology 135 (6), 2714-2722 (1994)
   PUBMED   7988462
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF437883.3 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000333527.6/ ENSP00000330269.5
            RefSeq Select criteria      :: based on longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF437883.3 and AC114803.5.
            On May 17, 2019 this sequence version replaced NM_001007089.3.
FEATURES             Location/Qualifiers
     source          1..797
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..797
                     /gene="RESP18"
                     /note="regulated endocrine specific protein 18"
                     /db_xref="GeneID:389075"
                     /db_xref="HGNC:HGNC:33762"
                     /db_xref="MIM:612721"
     CDS             1..687
                     /gene="RESP18"
                     /note="regulated endocrine-specific protein 18 homolog"
                     /codon_start=1
                     /product="regulated endocrine-specific protein 18"
                     /protein_id="NP_001007090.3"
                     /db_xref="CCDS:CCDS33382.2"
                     /db_xref="GeneID:389075"
                     /db_xref="HGNC:HGNC:33762"
                     /db_xref="MIM:612721"
                     /translation="MAVDVEFGVAGWWEAAAPLSPSAVAATFTETWPGSERAEPGRIQH
                     PLWPGSSEGLQLLVCFLLLNSCPGGCSDTSAHDGQDQVGVGQLWPLQGFATPVFQHLQV
                     VLQQIIPQGLFWKDDITQDAMIQKMEHASRLHPQEPCLKDGKALFPTKTTESPLAKVNR
                     DQCFTSEVVSKALKQEVANPVKITYRCSYGGLDMMQAPGPSKEEIIYKIMRLLWATSYC
                     GPQPCG"
     regulatory      775..780
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RESP18"
                     /note="hexamer: ATTAAA"
     polyA_site      797
                     /gene="RESP18"
                     /note="major polyA site"
ORIGIN
        1 atggcagtgg atgtggaatt cggagtcgcg ggctggtggg aagctgcagc cccgctcagc
       61 ccctcggccg tggccgctac cttcactgag acttggccgg ggagtgagcg cgccgagcct
      121 gggaggatac agcacccact gtggcctggg agctccgagg ggctccagct gcttgtctgc
      181 ttcctgctgc tgaacagctg cccggggggc tgcagcgaca ctagtgccca cgatggtcag
      241 gaccaagtag gagtggggca gctttggccc ctccaaggat ttgccacccc agtcttccag
      301 catttacagg ttgtgctcca gcagattata ccccaaggtc tgttctggaa ggatgacatc
      361 acccaggatg caatgatcca aaagatggag catgccagca gactgcatcc ccaagaacca
      421 tgcctgaagg atgggaaggc acttttcccc actaaaacca ctgagagccc cctggccaag
      481 gtgaacaggg atcagtgctt tacctccgaa gtggtttcta aggccctgaa acaagaggtg
      541 gccaaccctg tcaagattac ctataggtgt tcatatgggg ggctggacat gatgcaggcg
      601 ccgggaccct ctaaggaaga aattatctat aagatcatgc ggcttctctg ggccacttcc
      661 tactgtgggc cgcaaccctg tggctgattg agacctcatg tgaagcctcc ctgccccagc
      721 acccttccca ttgcccttca gaggagcagt tcttggatga cccagatttg aatcattaaa
      781 gtagactctc atgcaaa
//
LOCUS       NM_001007090            1420 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens chromosome 8 open reading frame 48 (C8orf48), mRNA.
ACCESSION   NM_001007090
VERSION     NM_001007090.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1420)
  AUTHORS   Lei L, An G, Zhu Z, Liu S, Fu Y, Zeng X, Cao Q and Yan B.
  TITLE     C8orf48 inhibits the tumorigenesis of colorectal cancer by
            regulating the MAPK signaling pathway
  JOURNAL   Life Sci 266, 118872 (2021)
   PUBMED   33309715
  REMARK    GeneRIF: C8orf48 inhibits the tumorigenesis of colorectal cancer by
            regulating the MAPK signaling pathway.
REFERENCE   2  (bases 1 to 1420)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1420)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1420)
  AUTHORS   Venkatesan K, Rual JF, Vazquez A, Stelzl U, Lemmens I,
            Hirozane-Kishikawa T, Hao T, Zenkner M, Xin X, Goh KI, Yildirim MA,
            Simonis N, Heinzmann K, Gebreab F, Sahalie JM, Cevik S, Simon C, de
            Smet AS, Dann E, Smolyar A, Vinayagam A, Yu H, Szeto D, Borick H,
            Dricot A, Klitgord N, Murray RR, Lin C, Lalowski M, Timm J, Rau K,
            Boone C, Braun P, Cusick ME, Roth FP, Hill DE, Tavernier J, Wanker
            EE, Barabasi AL and Vidal M.
  TITLE     An empirical framework for binary interactome mapping
  JOURNAL   Nat Methods 6 (1), 83-90 (2009)
   PUBMED   19060904
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC031245.1, AK058131.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000297324.5/ ENSP00000297324.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022832.13.
            On Nov 22, 2018 this sequence version replaced NM_001007090.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1420
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p22"
     gene            1..1420
                     /gene="C8orf48"
                     /note="chromosome 8 open reading frame 48"
                     /db_xref="GeneID:157773"
                     /db_xref="HGNC:HGNC:26345"
     misc_feature    112..114
                     /gene="C8orf48"
                     /note="upstream in-frame stop codon"
     CDS             124..1083
                     /gene="C8orf48"
                     /codon_start=1
                     /product="uncharacterized protein C8orf48"
                     /protein_id="NP_001007091.2"
                     /db_xref="CCDS:CCDS47809.1"
                     /db_xref="GeneID:157773"
                     /db_xref="HGNC:HGNC:26345"
                     /translation="MAICPELAQTDKSALANLSDETETLKNSTDEVQTSSSFSSSGGRQ
                     SSPLTSGSKLEREKQTPSLEQGDTQSELLDYKNYEKKLSKKWINYLKLKDSNFERHQPD
                     TKLPTEITRVSDEELNALQSYCTMKINLIHRRGDSKKKTSSRHKKLHLGLDVEASERDA
                     FSCTVPDELLNRIYFKNMRTTPKQEAAAKQHISYQCPYCNRKRAELALSAFLKQKKTLL
                     ESFLLQERIDEHLHTKDFLTRIGEAHQDFPRLSDDPRIIWKRLTEKSHIRYSGFERSET
                     EQKLQRDGNSACHLPFSLPFLKRLTLIKPELVIVNDNV"
     misc_feature    184..333
                     /gene="C8orf48"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LL4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1394..1399
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8orf48"
                     /note="hexamer: AATAAA"
     polyA_site      1420
                     /gene="C8orf48"
                     /note="major polyA site"
ORIGIN
        1 aagacgacct ccgcagagct gatggcattg agatccattc ccggaggggt cagctcctga
       61 cgggttcctg agccagtctt aacctgggca aaggagatga ggagccgagc ctgatgcatt
      121 gtgatggcca tctgcccaga attggcccaa acggacaaaa gtgctcttgc aaacctttct
      181 gatgagactg agactttgaa gaactctact gatgaggtac agacttccag ctcattcagc
      241 tcctctggag gacggcagtc ctcgcccctg acctctggga gcaaactgga gagggaaaag
      301 cagactccaa gcttggaaca aggagacaca caatctgagc ttttggacta taaaaattat
      361 gaaaagaagt tgagtaaaaa atggatcaac tacctcaagc tcaaagactc taactttgaa
      421 cggcaccaac cagacaccaa acttccaaca gaaatcactc gggtatcaga tgaagaattg
      481 aatgccctgc agtcttattg caccatgaag ataaatttga ttcatcgtag aggggattct
      541 aagaagaaga cgagcagcag acataaaaag ctgcatcttg gattggatgt agaggcttca
      601 gagagagatg cctttagttg tactgtaccc gatgaacttt tgaacagaat ctactttaaa
      661 aacatgagga caacgccaaa acaggaggca gcagctaagc aacacatatc ttatcagtgt
      721 ccctattgta acaggaaaag agcggagctg gccctgtctg cctttctgaa acaaaagaag
      781 actttactgg agtcatttct actccaagag agaatagatg aacatcttca taccaaagac
      841 tttctcaccc gtattggaga agcacatcaa gactttccca ggctttcaga tgaccccaga
      901 ataatctgga aaagactgac tgagaaaagt catatcagat actctggttt tgaaagatca
      961 gagacagagc agaagttgca gcgagatgga aatagtgctt gtcatttacc attttctctg
     1021 ccatttctca agcgacttac tctaatcaaa ccagagctgg tgattgttaa tgataatgtg
     1081 taatgtggat agatgtcttt gttgtgtatt tgagtaatta ccataatttc tacaggcact
     1141 tgggaaacta acttaagact ttactatgct tccttcacag atttgaggac taagaacttt
     1201 cacttttttt ttcctattat agaaggcact gttgtagttg gaatagttat aaaaactttt
     1261 acaaaattcc aagagaacta tgttggtagt ttgggccagg atgttgatgg tacagaagca
     1321 aagtagtatg gggatgtaag agaaacttaa aaagtaataa ctgtctttgg cgatcaaatg
     1381 gctatgggga attaataaat agtagatgtt tgaaatgtta
//
LOCUS       NM_001007122            6418 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens fibronectin type III and SPRY domain containing 2
            (FSD2), transcript variant 1, mRNA.
ACCESSION   NM_001007122
VERSION     NM_001007122.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6418)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 6418)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6418)
  AUTHORS   Benson MA, Tinsley CL, Waite AJ, Carlisle FA, Sweet SMM, Ehler E,
            George CH, Lai FA, Martin-Rendon E and Blake DJ.
  TITLE     Ryanodine receptors are part of the myospryn complex in cardiac
            muscle
  JOURNAL   Sci Rep 7 (1), 6312 (2017)
   PUBMED   28740084
  REMARK    GeneRIF: Data identify a novel muscle-expressed TRIM-related protein
            minispryn, encoded by Fsd2, that has extensive sequence similarity
            with the C-terminus of Cmya5. They appear to have originated by a
            chromosomal duplication and are found within
            evolutionarily-conserved gene clusters on different chromosomes.
            Both proteins co-localize with RyR2 at the junctional sarcoplasmic
            reticulum of isolated cardiomyocytes. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 6418)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human genetic
            disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   5  (bases 1 to 6418)
  AUTHORS   Dong C, Beecham A, Slifer S, Wang L, Blanton SH, Wright CB, Rundek T
            and Sacco RL.
  TITLE     Genomewide linkage and peakwide association analyses of carotid
            plaque in Caribbean Hispanics
  JOURNAL   Stroke 41 (12), 2750-2756 (2010)
   PUBMED   20966410
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK122875.1, AL833295.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968832, SAMEA1968968
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000334574.12/ ENSP00000335651.8
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK122875.1, AC105339.9 and
            AL833295.1.
            On Nov 23, 2018 this sequence version replaced NM_001007122.3.
            Summary: This gene encodes a protein that belongs to the FN3/SPRY
            family of proteins. Alternate splicing results in multiple
            transcript variants. [provided by RefSeq, Aug 2013].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6418
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.2"
     gene            1..6418
                     /gene="FSD2"
                     /gene_synonym="SPRYD1"
                     /note="fibronectin type III and SPRY domain containing 2"
                     /db_xref="GeneID:123722"
                     /db_xref="HGNC:HGNC:18024"
     misc_feature    123..125
                     /gene="FSD2"
                     /gene_synonym="SPRYD1"
                     /note="upstream in-frame stop codon"
     CDS             183..2432
                     /gene="FSD2"
                     /gene_synonym="SPRYD1"
                     /note="isoform a is encoded by transcript variant 1; SPRY
                     domain containing 1; fibronectin type III and SPRY
                     domain-containing protein 2; SPRY domain-containing protein
                     1; minispryn"
                     /codon_start=1
                     /product="fibronectin type III and SPRY domain-containing
                     protein 2 isoform a"
                     /protein_id="NP_001007123.1"
                     /db_xref="CCDS:CCDS45332.1"
                     /db_xref="GeneID:123722"
                     /db_xref="HGNC:HGNC:18024"
                     /translation="MEEESGEELGLDRSTPKDFHFYHMDLYDSEDRLHLFPEENTRMRK
                     VVQAEMANESRGAGDGKAQRDLQEEVDELVHLYGLEDDHELGDEFVDENIPRTGVSEYP
                     PYMMKRRDPAREQRDWRLSGEAAEAEDLGFGGWGSAGQCQDLREAYRYTHGRASEEYEC
                     YVIPEEEDEEEAADVFCVTCKTPIRAFQKVFDEHKEHEVIPLNEALESAKDEIHKNMYK
                     LEKQIIEMENFANHLEEVFITVEENFGKQEQNFESHYNEILETLAQKYEEKIQALGEKK
                     KEKLEALYGQLVSCGENLDTCKELMETIEEMCHEEKVDFIKDAVAMADRLGKFLKTKTD
                     VEISAQPEFEDQTLDFSDVEQLMGSINTIPAPSAPVINPQVPNSATGSSVRVCWSLYSD
                     DTVESYQLSYRPVQDSSPGTDQAEFTVTVKETYCSVTNLVPNTQYEFWVTAHNRAGPSP
                     SSERAVYMTAPSPPIIKTKEIRSCEEAVLICWESGNLNPVDSYTVELTQAESPEASGVT
                     ESVVGIPTCESVVQLQPGRSYIIYVRALNMGGPSVRSEPATVHTIGSYFRLNKDTCHPW
                     LTISEDGLTAVRSERRTPARELSPSDTHFTRCVAVMGNLIPVRGHHYWEVEVDEHLDYR
                     VGVAFADVRKQEDLGANCLSWCMRHTFASSRHKYEFLHNRTTPDIRITVPPKKIGILLD
                     YEHSKLSFFNVDLSQHLYTFSCQLHEFVHPCFSLEKPGCLKVHNGISMPKHVTFY"
     regulatory      3127..3132
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FSD2"
                     /gene_synonym="SPRYD1"
                     /note="hexamer: AATAAA"
     polyA_site      3147
                     /gene="FSD2"
                     /gene_synonym="SPRYD1"
                     /note="major polyA site"
     regulatory      6395..6400
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FSD2"
                     /gene_synonym="SPRYD1"
                     /note="hexamer: AATAAA"
     polyA_site      6418
                     /gene="FSD2"
                     /gene_synonym="SPRYD1"
ORIGIN
        1 atgcagaggt cactaggaag gaaagcctgc tgaacacaga ttcaattttc tagcagaact
       61 ccaggtcctc tgagttaaag gaagcattta tggacgctta gcagggccca gatattcact
      121 attaagtgtc caggaaggat ctttcttata taaaggtgct tctgaggact tccagagtta
      181 caatggagga ggaatcgggg gaggaactgg ggctggacag gtctactccc aaggatttcc
      241 acttttacca catggacctg tatgactctg aagacagact gcacctcttt ccagaagaga
      301 acactaggat gaggaaagta gtccaagctg aaatggccaa tgagtcaaga ggagcagggg
      361 atggtaaggc tcaaagagac cttcaagagg aagtggatga acttgtccac ttatatggac
      421 ttgaagatga tcatgaatta ggggatgagt ttgttgatga aaacataccc agaacagggg
      481 tttcagaata tcctccttat atgatgaaga ggagagaccc agccagggag cagagagact
      541 ggagacttag tggagaggca gcggaggccg aggacctggg cttcggaggg tggggctcag
      601 caggccagtg ccaggacttg cgggaagcct ataggtacac acacggccgt gccagcgagg
      661 agtatgaatg ctatgtcatc cccgaggaag aggatgaaga agaagctgct gatgtcttct
      721 gtgtcacttg taagactcca ataagagctt ttcagaaggt ttttgatgaa cataaggagc
      781 atgaagtgat cccactcaat gaagcactgg aaagtgccaa ggatgaaatt cacaaaaaca
      841 tgtacaaatt ggaaaagcag ataattgaga tggaaaactt tgcaaatcat ttggaggagg
      901 ttttcatcac tgtggaggag aattttggaa aacaagaaca aaactttgag tcacattaca
      961 acgagatctt ggaaacactt gctcaaaaat atgaggaaaa aatacaagct ctaggggaga
     1021 aaaagaaaga gaagctggaa gccttatatg gacaactggt cagctgtgga gaaaacctag
     1081 atacttgcaa agaactgatg gaaacaatag aggagatgtg tcacgaggag aaggtggatt
     1141 tcataaagga tgcagtggct atggctgaca gactcgggaa attcctgaaa acaaaaacag
     1201 acgtggaaat ctctgcacag cctgagtttg aagaccagac cttggatttc tctgatgtgg
     1261 agcagctgat gggctccatt aacaccattc cagctccttc tgctccagtc ataaatccac
     1321 aggtccctaa ctcagccaca ggttcctcag tccgagtgtg ctggagctta tactccgacg
     1381 acactgtgga gagctatcag ctgtcctacc ggccagtgca ggacagctca cctgggacgg
     1441 accaagcaga gtttacagtg actgtcaaag aaacatattg ctcagtgaca aaccttgtgc
     1501 caaataccca gtatgaattt tgggtcacag ctcacaacag ggctggcccc agcccctcta
     1561 gcgagcgtgc agtgtacatg acagcacctt ctccccccat tattaaaacc aaagagataa
     1621 ggagctgtga agaggctgtg ctgatttgct gggagtctgg gaacctgaat cctgtggact
     1681 cgtacactgt ggagctgacc caggctgaaa gtccagaagc ctcgggtgta actgagtctg
     1741 ttgtgggcat cccgacctgc gagtccgtgg tgcagctgca gccggggcgg agctacatta
     1801 tctatgtgcg agccctcaat atggggggcc ccagcgtgag gagcgagcca gctacagtcc
     1861 acaccatagg aagctacttt cgcctaaaca aggacacttg ccatccctgg ctgaccattt
     1921 ctgaagacgg acttacggct gtacgaagtg aaaggagaac ccccgccagg gagctgtcac
     1981 ccagcgacac tcacttcacc aggtgtgttg ctgtcatggg aaatctaatt ccagtccgag
     2041 ggcaccatta ctgggaggtg gaggtggatg agcatttgga ctacagagtt ggtgtggcct
     2101 ttgcagatgt ccgtaaacag gaggatctgg gagcaaattg cctctcctgg tgcatgaggc
     2161 acacatttgc atcatcaagg cataagtatg aatttctgca caacagaaca actccagata
     2221 taagaataac agttccacca aagaagattg gcattctatt agactatgaa cattcaaagt
     2281 tgtcattttt caatgtggac ctttctcagc atctatatac atttagttgt cagcttcacg
     2341 aatttgtgca tccctgtttt tctttggaaa agcctgggtg tctaaaggta cataatggca
     2401 tttcaatgcc aaaacatgtc actttctatt agaacattct gatgtccagt ttcctgtctt
     2461 ccatgcctac ccctctcgca gctgctcacg ccttagctgg ctgaacctgg cacttaagca
     2521 ccatgtgccc agcacaattt atggctcatg ctattatctg actggtgtgc tagcgctcat
     2581 ttcacccaac ctggattcta gtcctgtgtg ctgctacctg tgtgctgcta ggatagtcat
     2641 taccaggccc agctgtaaaa taaaggctca gactaaacga actcaaaagt ctttgaagct
     2701 gtcaaactat attcgtgtat atgcaaaata tcttgagttt ccaagaccta gagagcttgg
     2761 gagaggacga gggtagtctt aatggctcca gcagcaccag tacacccatg catttcatga
     2821 gtcagccaag aatacacttg agaaggcgag aggctgtctg tagagaacca gggaagctgt
     2881 gtgcccttct caatgtcttc taccctcgtt ttcccaatag tgagcagcac tgtggtgagg
     2941 tcccttccac tgtgtactct gcatacaggg tattccctgt tccactccta cacagtatgc
     3001 accactctct aattttgaaa ttacctctat aatgcctaat tccatgaagg gagggacagt
     3061 gcctgttttg ttcattgcta gatcaccaag ggctaacaca taacagctgt caccaagtat
     3121 ttgttgaata aattagtatc ttcttcagcc actgctcttt ggcctcttac tgctctccat
     3181 gtgaaggatg gcagggctct ttcaaaacta cagcaaagga cctatggcca agaaatggga
     3241 aaaaacctag aatggaggca gcgtgaaaga acagaagggc atctgtggca tattagcaaa
     3301 tgcacaacaa ttttttaaaa gaaattaaca gcccaccaaa gggcaaagct gagcacggga
     3361 aggaagactg atctctagct aggcagcttt caggcatcct gcctcactgc ccccaggcca
     3421 ttctgtgagc tcaatgccca actccatcag ctacattcct ggttctcctg ttcaagtttc
     3481 cagttgccac ttaagctctg cacacacagc attttcaaag cttgtgagtg aagctgcaga
     3541 ataattccat ttgtgaagca attacaattc agtatcatgt cccacagatg cctctaaacc
     3601 cagatatgcc ctaatctcat catttaaggt tttgtgttta aaaaaaaaaa gtccactttt
     3661 cttttttctg gcgaaacccc gtctctacta aaaatacaaa aaattagccg ggcatggtgg
     3721 tgggcgcctg taatcccagc tactcaggag gctgaggcag gagaattgct tgaacccggg
     3781 ggcagaggct gcagtgagcc gagattgtgc cactgcactc cagccttggc aacaagagcg
     3841 caactctgtc tcaaaaacaa acaaacaaac aaacaaaaaa cctctgatgt tttccagcac
     3901 ctgcaaagtc tgacaaactg aaagactctc atctcctact aaactctgcc tactcgtata
     3961 aatggcagct cagattcctg aattaacaat tcacactgac aatttaataa ctcgttatac
     4021 acacacacac ctatcctgcc aagctggact gtctactctg aaacaaggga cagcagatgt
     4081 aagcacagaa atagttccag ttataaacaa ttaaaagata catatcatgt atatttaaaa
     4141 atgttctcgg ccgggcgcgg tggctcacgc ctgtaatccc agcactttgg ggggccaagg
     4201 tggatggatc acaaggtcag gagatcgaga ccatcctggc taatacggtg aaaccccgtc
     4261 tctactaaaa atacaaaaaa attagccggg actggtggcg ggcgcctgta gtcccagcta
     4321 ctcgggaggc tgaggcagga gaatggcgtg aacccgggag gtggagcttg cagtgagccg
     4381 agatggctca cagatcaaga ctccatctca aaaaaaaaaa aaaaaaaagt tctcagctac
     4441 tgaaatagaa actaccaagt aagaaacagg atatcacaga gaaggcaagt ttgaattcag
     4501 ggttctaata ggctttatgg aatactacac gttagtatga acacggataa atggattaaa
     4561 aactcaacac gtataaagtt ttaattaaat ttttatttga ccaagaaaaa actgtctaga
     4621 attgcctgac atttaaaatc cacttaaagc agattagcaa cttcaagcat cacaattatt
     4681 cagcataaag agcctttgtt gaaacatctt tctcatttat ttagaagaaa acatctagaa
     4741 cagaaccaag caaaactttt gtatttttgt aaaaaatctc aattcctgaa actactataa
     4801 acaatctact gaaactgtat tcagcaaggg acagatttac ctcaaggcca tgttcacctg
     4861 caacctgctg ataagtctgt taaaaaacaa agcaaaaaaa agagttttta aaaattagac
     4921 cactgtagcc acaatcccta acactggaca gttaaaacaa aagttatcaa aatctgttct
     4981 tttcttagct ttacctgtat cactttataa ctcctgagaa agtcattcac ataagctgtg
     5041 gcctccccac cttaacaaag gggaaaaaga atatgtaaaa ccaccacaga atcttggcgt
     5101 aaactaacat gggtttagta atacagagta cagtattcag gatttaaggc acccttacaa
     5161 gtcagaattg gaaagttggt ttgagacttg caatctaaaa tgacactgat ttctgataaa
     5221 attaaatgac ttttatttag aaaagtgtgt ttaataaatt acttcctgct ggttcaaatg
     5281 acacacaatc actttgtata catccaataa gatatttctg aagtgtatac ttggtcaaaa
     5341 gtaaaaagca gagcaaatgc atggacagtg gggccttctt cttaatactt ctcatcctcc
     5401 aaaatctgtt aaaatcatca tcttccacaa ctcacacact ggaagctgtc cacagcacaa
     5461 ttcactgtga tgtggcattc tgtaaataag actacattgg tcttgatgca aggcggttca
     5521 gctaccagac tgcactataa gaaaagtcct ctcctcaact taccaagaaa acttcgccaa
     5581 tttctagtca ccttcctatc aattagtaga gcaagattct cacatgttca ctatgtcttt
     5641 ctccagtttt ctcatctata agtgtactac tcctattttc tataggaaga caatggaaag
     5701 cgtgtaattg ctgttggtag ataagtaggt cttgaattta ttttgcaaac aagacctgtt
     5761 ctatctacct tttcatttag gaggctaaaa gcagagtcag cttgatttca aggactctat
     5821 tttcttagtc tccagaagaa cataaccaaa tccagctttt aaaacactgt cctttaacaa
     5881 gtcaagatac tcaaataaag atcatgtata acttcaagct ataggagatt aactctgtac
     5941 atatgcttgt ttcactgtaa ccaatggtta attaatctaa atgcaagaga aaagttattt
     6001 ggaaagaaga ccccagctgg tcagcatctt ttctgtcatc aggaagtctc ctggaaggag
     6061 tatgactatg acctgggcac aacaactgcc cctaagttag tacttatttt agagttgcta
     6121 ctgaacaggt ggtggttctt gtcaagtata tcatgtctga ctactttact gcttgttttc
     6181 tgctatcacc agttccagaa aaaaaaaaaa aaaaaattaa gcccaactca ctaattgatt
     6241 gctttttcat tttcccagac tgtgacagaa tcatggtttt tagctctatt ttcaccttac
     6301 tcaaatcctg gaggaattaa actatcattt atttgaaatg ttacaaatta gcctgcagtt
     6361 gattcaaaca acatgtagtc actcagacat agcaaataaa aatgttttgg tatatgaa
//
LOCUS       NM_001007157            3427 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens PHD finger protein 14 (PHF14), transcript variant 1,
            mRNA.
ACCESSION   NM_001007157
VERSION     NM_001007157.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3427)
  AUTHORS   Gomez-Marin E, Posavec-Marjanovic M, Zarzuela L, Basurto-Cayuela L,
            Guerrero-Martinez JA, Arribas G, Yerbes R, Ceballos-Chavez M,
            Rodriguez-Paredes M, Tome M, Duran RV, Buschbeck M and Reyes JC.
  TITLE     The high mobility group protein HMG20A cooperates with the histone
            reader PHF14 to modulate TGFbeta and Hippo pathways
  JOURNAL   Nucleic Acids Res 50 (17), 9838-9857 (2022)
   PUBMED   36124662
  REMARK    GeneRIF: The high mobility group protein HMG20A cooperates with the
            histone reader PHF14 to modulate TGFbeta and Hippo pathways.
REFERENCE   2  (bases 1 to 3427)
  AUTHORS   Pan G, Zhang K, Geng S, Lan C, Hu X, Li C, Ji H, Li C, Hu X, Wang Y,
            Lv M and Cui H.
  TITLE     PHF14 knockdown causes apoptosis by inducing DNA damage and
            impairing the activity of the damage response complex in colorectal
            cancer
  JOURNAL   Cancer Lett 531, 109-123 (2022)
   PUBMED   35074497
  REMARK    GeneRIF: PHF14 knockdown causes apoptosis by inducing DNA damage and
            impairing the activity of the damage response complex in colorectal
            cancer. Erratum:[Cancer Lett. 2023 Aug 1;568:216290. PMID: 37438200]
REFERENCE   3  (bases 1 to 3427)
  AUTHORS   Zhao Y, He J, Li Y, Xu M, Peng X, Mao J, Xu B and Cui H.
  TITLE     PHF14 Promotes Cell Proliferation and Migration through the AKT and
            ERK1/2 Pathways in Gastric Cancer Cells
  JOURNAL   Biomed Res Int 2020, 6507510 (2020)
   PUBMED   32596345
  REMARK    GeneRIF: PHF14 Promotes Cell Proliferation and Migration through the
            AKT and ERK1/2 Pathways in Gastric Cancer Cells. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3427)
  AUTHORS   Miao L, Liu HY, Zhou C and He X.
  TITLE     LINC00612 enhances the proliferation and invasion ability of bladder
            cancer cells as ceRNA by sponging miR-590 to elevate expression of
            PHF14
  JOURNAL   J Exp Clin Cancer Res 38 (1), 143 (2019)
   PUBMED   30940184
  REMARK    GeneRIF: Study revealed that miR-590 was shown to directly target
            PHF14 thus affecting thus affecting bladder neoplasm cellular
            epithelial-mesenchymal transition. Erratum:[J Exp Clin Cancer Res.
            2022 Mar 15;41(1):103. PMID: 35292080] Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 3427)
  AUTHORS   Zhang L, Huang Q, Lou J, Zou L, Wang Y, Zhang P, Yang G, Zhang J, Yu
            L, Yan D, Zhang C, Qiao J, Wang S, Wang S, Xu Y, Ji H, Chen Z and
            Zhang Z.
  TITLE     A novel PHD-finger protein 14/KIF4A complex overexpressed in lung
            cancer is involved in cell mitosis regulation and tumorigenesis
  JOURNAL   Oncotarget 8 (12), 19684-19698 (2017)
   PUBMED   28160558
  REMARK    GeneRIF: High PHF14 expression is associated with lung cancer.
REFERENCE   6  (bases 1 to 3427)
  AUTHORS   Friedrichs S, Malzahn D, Pugh EW, Almeida M, Liu XQ and Bailey JN.
  TITLE     Filtering genetic variants and placing informative priors based on
            putative biological function
  JOURNAL   BMC Genet 17 Suppl 2 (Suppl 2), 8 (2016)
   PUBMED   26866982
  REMARK    GeneRIF: Results show that marker rs218966 in gene PHF14 and
            rs9836027 in MAP4 significantly associated with hypertension;
            additionally, rare variants in SNUPN significantly associated with
            systolic blood pressure. Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3427)
  AUTHORS   Huang Q, Zhang L, Wang Y, Zhang C, Zhou S, Yang G, Li Z, Gao X, Chen
            Z and Zhang Z.
  TITLE     Depletion of PHF14, a novel histone-binding protein gene, causes
            neonatal lethality in mice due to respiratory failure
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 45 (8), 622-633 (2013)
   PUBMED   23688586
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000634607.2/ ENSP00000489535.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK294419.1, AB018326.1, BM834437.1, AA699404.1 and AA837024.1.
            On or before Dec 14, 2018 this sequence version replaced
            XM_017012814.2, NM_001007157.1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3427
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.3"
     gene            1..3427
                     /gene="PHF14"
                     /note="PHD finger protein 14"
                     /db_xref="GeneID:9678"
                     /db_xref="HGNC:HGNC:22203"
                     /db_xref="MIM:619907"
     misc_feature    417..419
                     /gene="PHF14"
                     /note="upstream in-frame stop codon"
     CDS             453..3299
                     /gene="PHF14"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="PHD finger protein 14 isoform 1"
                     /protein_id="NP_001007158.1"
                     /db_xref="GeneID:9678"
                     /db_xref="HGNC:HGNC:22203"
                     /db_xref="MIM:619907"
                     /translation="MDRSSKRRQVKPLAASLLEALDYDSSDDSDFKVGDASDSEGSGNG
                     SEDASKDSGEGSCSDSEENILEEELNEDIKVKEEQLKNSAEEEVLSSEKQLIKMEKKEE
                     EENGERPRKKKEKEKEKEKEKEKEKEREKEKEKATVSENVAASAAATTPATSPPAVNTS
                     PSVPTTTTATEEQVSEPKKWNLRRNRPLLDFVSMEELNDMDDYDSEDDNDWRPTVVKRK
                     GRSASQKEGSDGDNEDDEDEGSGSDEDENDEGNDEDHSSPASEGGCKKKKSKVLSRNSA
                     DDEELTNDSLTLSQSKSNEDSLILEKSQNWSSQKMDHILICCVCLGDNSEDADEIIQCD
                     NCGITVHEGCYGVDGESDSIMSSASENSTEPWFCDACKCGVSPSCELCPNQDGIFKETD
                     AGRWVHIVCALYVPGVAFGDIDKLRPVTLTEMNYSKYGAKECSFCEDPRFARTGVCISC
                     DAGMCRAYFHVTCAQKEGLLSEAAAEEDIADPFFAYCKQHADRLDRKWKRKNYLALQSY
                     CKMSLQEREKQLSPEAQARINARLQQYRAKAELARSTRPQAWVPREKLPRPLTSSASAI
                     RKLMRKAELMGISTDIFPVDNSDTSSSVDGRRKHKQPALTADFVNYYFERNMRMIQIQE
                     NMAEQKNIKDKLENEQEKLHVEYNKLCESLEELQNLNGKLRSEGQGIWALLGRITGQKL
                     NIPAILRAPKERKPSKKEGGTQKTSTLPAVLYSCGICKKNHDQHLLLLCDTCKLHYHLG
                     CLDPPLTRMPRKTKNSYWQCSECDQAGSSDMEADMAMETLPDGTKRSRRQIKEPVKFVP
                     QDVPPEPKKIPIRNTRTRGRKRSFVPEEEKHEERVPRERRQRQSVLQKKPKAEDLRTEC
                     ATCKGTGDNENLVRCDECRLCYHFGCLDPPLKKSPKQTGYGWICQECDSSSSKEDENEA
                     ERKNISQELNMEQKNPKK"
     misc_feature    516..1358
                     /gene="PHF14"
                     /note="propagated from UniProtKB/Swiss-Prot (O94880.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    528..530
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O94880.3); phosphorylation site"
     misc_feature    537..539
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (O94880.3); phosphorylation site"
     misc_feature    702..704
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94880.3); phosphorylation site"
     misc_feature    723..725
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O94880.3); phosphorylation site"
     misc_feature    1038..1040
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O94880.3); phosphorylation site"
     misc_feature    1068..1070
                     /gene="PHF14"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94880.3); phosphorylation site"
     misc_feature    1074..1076
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94880.3); phosphorylation site"
     misc_feature    1311..1313
                     /gene="PHF14"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O94880.3);
                     phosphorylation site"
     misc_feature    1320..1322
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O94880.3);
                     phosphorylation site"
     misc_feature    1332..1334
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O94880.3);
                     phosphorylation site"
     misc_feature    1344..1346
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O94880.3);
                     phosphorylation site"
     misc_feature    1356..1358
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O94880.3);
                     phosphorylation site"
     misc_feature    1374..1376
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94880.3); phosphorylation site"
     misc_feature    1527..1529
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94880.3); phosphorylation site"
     misc_feature    2040..2042
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O94880.3);
                     phosphorylation site"
     misc_feature    2403..2405
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O94880.3); phosphorylation site"
     misc_feature    2793..2795
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D4H9; propagated from
                     UniProtKB/Swiss-Prot (O94880.3); phosphorylation site"
     misc_feature    2796..2798
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D4H9; propagated from
                     UniProtKB/Swiss-Prot (O94880.3); phosphorylation site"
     misc_feature    2883..3038
                     /gene="PHF14"
                     /note="propagated from UniProtKB/Swiss-Prot (O94880.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2955..2957
                     /gene="PHF14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94880.3); phosphorylation site"
     misc_feature    3210..3296
                     /gene="PHF14"
                     /note="propagated from UniProtKB/Swiss-Prot (O94880.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3406..3411
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHF14"
                     /note="hexamer: AATAAA"
     polyA_site      3427
                     /gene="PHF14"
                     /note="major polyA site"
ORIGIN
        1 acttcctttt cagagctgta tccgggtcgc tgctttccct attgtctgag gcagccgccc
       61 tcgcgctgtg caatttctgg tctttcgttg cttctggtcc aggctaataa agtttttctt
      121 tctttaattt tttttcttct agttttaacg ggagaaatta actccccggg gccgccgggt
      181 tgactgcgct gcctgggccg gaggtcttct ccggccaggg agcgctgtgg gaaggggctc
      241 gagcggccag ggccaggcga ggccgggggg gcggggggtt aggggaccgc ggggctactc
      301 ttgggagcgc ccctgtccgg ctggctgcgc gccggtttta aatagcatct ttcggacttg
      361 tcttcgcggc cccagtcccc gacctcggcg ctgcctgggc tcctgcagcc tctccctaag
      421 tcttctccaa acgaccacct cacggattcc ttatggatcg cagctccaag aggaggcagg
      481 tgaagccttt ggcagcttct ctgctggaag ctcttgatta tgatagttca gatgacagtg
      541 attttaaagt tggagatgcc tcagattctg aagggagtgg taatggaagt gaagatgctt
      601 caaaggacag tggagaaggt tcctgtagtg attctgaaga aaatatttta gaagaagaac
      661 tgaatgaaga tattaaagta aaagaagaac aacttaaaaa ttctgcagag gaagaagtac
      721 tatcatcaga aaaacaatta attaaaatgg aaaagaagga agaagaagaa aatggagaaa
      781 gacctagaaa gaaaaaggag aaagagaagg aaaaagaaaa ggaaaaggag aaagagaagg
      841 aaagagagaa ggaaaaagaa aaagcaacag tatctgagaa tgtggctgct tctgctgctg
      901 ccaccacacc agccacaagt cctcctgctg ttaacacatc cccttctgtt cccactacga
      961 caaccgctac agaggaacaa gtcagcgagc caaaaaaatg gaaccttcga cgaaaccgac
     1021 cacttctgga ttttgtgtcc atggaagagc tgaatgacat ggatgactat gacagtgagg
     1081 atgacaatga ttggcgacct actgtagtaa agagaaaagg gagatctgcg tctcagaaag
     1141 agggaagtga tggagacaat gaggatgatg aagatgaggg aagcgggagt gatgaagacg
     1201 agaatgatga aggcaatgat gaagatcata gtagccctgc cagtgaaggg ggttgcaaga
     1261 agaagaagag taaagttctt agcagaaaca gtgctgatga tgaggaactg accaatgata
     1321 gcctgaccct atctcaaagc aagagtaatg aggactcgct gattcttgag aagagtcaaa
     1381 actggagctc tcaaaaaatg gaccatattc tgatttgctg tgtttgtctg ggagataata
     1441 gtgaggacgc tgatgaaata attcagtgtg acaattgtgg cattacagtc catgaaggtt
     1501 gttatggagt tgatggagag agtgactcta ttatgagttc agcttctgaa aactccactg
     1561 aaccttggtt ttgtgatgcc tgtaaatgtg gtgtttctcc tagctgtgaa ctgtgtccta
     1621 atcaggatgg aattttcaag gagacagatg ctggaagatg ggttcatatt gtttgtgccc
     1681 tgtatgttcc tggagtagcc tttggagata ttgacaaatt acgaccagta acactaacgg
     1741 aaatgaacta ttccaaatat ggtgccaagg agtgtagctt ttgtgaagac cctcgctttg
     1801 ctagaactgg ggtttgcatt agctgtgatg cagggatgtg cagagcctat ttccatgtga
     1861 cctgtgctca aaaggaaggt ctgctttcag aggcagcggc ggaagaggat atagcagatc
     1921 cattctttgc ttattgtaag caacatgcag ataggttaga cagaaagtgg aagagaaaaa
     1981 actacttggc tctacagtcc tattgtaaaa tgtctttgca agagagagag aagcaactat
     2041 caccagaagc acaggcaagg atcaatgccc ggcttcagca gtatcgtgcc aaagcagaac
     2101 tagctcgatc taccagaccc caggcctggg ttccaaggga aaaattgccc agaccactca
     2161 ccagcagtgc ttcagctatt cgtaaactta tgcggaaagc agaactcatg gggatcagta
     2221 cagatatctt tccagtggac aattcagata ctagttctag tgtggatgga aggagaaaac
     2281 ataagcaacc agctctcact gcagattttg tgaattatta ttttgagaga aatatgcgca
     2341 tgattcaaat tcaggaaaat atggctgaac aaaagaatat aaaagataaa ttagagaatg
     2401 aacaagaaaa gcttcatgta gaatataata agctatgtga atctttagaa gaactacaaa
     2461 acctgaatgg aaaacttcga agtgaaggac aaggaatatg ggctttacta ggcagaatca
     2521 cagggcagaa gttgaatata ccggcaattt tgcgagcacc caaggagaga aaaccaagta
     2581 aaaaagaagg aggcacacaa aagacatcta ctcttcctgc agtactttat agttgtggga
     2641 tttgtaagaa gaaccatgat cagcatcttc ttttattgtg tgatacctgt aaactacatt
     2701 accatcttgg atgtctggat cctcctctta caaggatgcc aagaaagacc aaaaacagtt
     2761 attggcagtg ctcggaatgt gaccaggcag ggagcagtga catggaagca gatatggcca
     2821 tggaaaccct accagatgga accaaacgat caaggaggca gattaaggaa ccagtgaaat
     2881 ttgttccaca ggatgtgcca ccagaaccca agaagattcc gataagaaac acgagaacca
     2941 gaggacgaaa acgaagcttc gttcctgagg aagaaaaaca tgaggaaaga gttcctagag
     3001 agagaagaca aagacagtct gtgttgcaaa agaagcccaa ggctgaagat ttaagaactg
     3061 aatgtgcaac ttgcaaggga actggagaca atgaaaatct tgtcaggtgt gatgaatgca
     3121 gactctgcta ccattttggc tgtttggatc ctcctttgaa aaagtctcct aaacagacag
     3181 gctacggatg gatatgtcag gaatgtgatt cttcatcttc caaggaagat gaaaatgaag
     3241 ctgaaagaaa aaatatatct caggagctca acatggaaca gaaaaatcca aagaaataaa
     3301 agattttctg tagtgttttt gaaaagtttg cagcttatgt aatagcagat aaaatttcta
     3361 attgtaaaat gttaaattgt aaaatctaat ttgcaaaatg ttctcaataa agtcattcaa
     3421 aatgaaa
//
LOCUS       NM_001007189            3456 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens IgA inducing protein (IGIP), mRNA.
ACCESSION   NM_001007189
VERSION     NM_001007189.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3456)
  AUTHORS   Estes DM.
  TITLE     Regulation of IgA responses in cattle, humans and mice
  JOURNAL   Vet Immunol Immunopathol 138 (4), 312-317 (2010)
   PUBMED   21074276
  REMARK    Review article
REFERENCE   2  (bases 1 to 3456)
  AUTHORS   Endsley MA, Njongmeta LM, Shell E, Ryan MW, Indrikovs AJ, Ulualp S,
            Goldblum RM, Mwangi W and Estes DM.
  TITLE     Human IgA-inducing protein from dendritic cells induces IgA
            production by naive IgD+ B cells
  JOURNAL   J Immunol 182 (4), 1854-1859 (2009)
   PUBMED   19201837
  REMARK    GeneRIF: IgA-inducing protein stimulation drives the production of
            mu-alpha switch circles from IgM(+)IgD(+) naive human B cells,
            indicating its role as an IgA switch factor.
REFERENCE   3  (bases 1 to 3456)
  AUTHORS   Austin AS, Haas KM, Naugler SM, Bajer AA, Garcia-Tapia D and Estes
            DM.
  TITLE     Identification and characterization of a novel regulatory factor:
            IgA-inducing protein
  JOURNAL   J Immunol 171 (3), 1336-1342 (2003)
   PUBMED   12874223
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AB073888.1, SRR1803617.41316.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000333305.5/ ENSP00000327344.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC041380.1, CD516511.1, BC017422.1 and AC011379.7.
            On May 17, 2019 this sequence version replaced NM_001007189.1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3456
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..3456
                     /gene="IGIP"
                     /gene_synonym="C5orf53"
                     /note="IgA inducing protein"
                     /db_xref="GeneID:492311"
                     /db_xref="HGNC:HGNC:33847"
     misc_feature    2487..2489
                     /gene="IGIP"
                     /gene_synonym="C5orf53"
                     /note="upstream in-frame stop codon"
     CDS             2541..2702
                     /gene="IGIP"
                     /gene_synonym="C5orf53"
                     /note="IgA-inducing protein homolog (Bos taurus)"
                     /codon_start=1
                     /product="IgA-inducing protein homolog precursor"
                     /protein_id="NP_001007190.1"
                     /db_xref="CCDS:CCDS34244.1"
                     /db_xref="GeneID:492311"
                     /db_xref="HGNC:HGNC:33847"
                     /translation="MCSYYHMKKRSVSGCNITIFAVMFSHLSAGKSPCGNQANVLCISR
                     LEFVQYQS"
     sig_peptide     2541..2630
                     /gene="IGIP"
                     /gene_synonym="C5orf53"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (A6NJ69.1)"
     polyA_site      2822
                     /gene="IGIP"
                     /gene_synonym="C5orf53"
                     /note="major polyA site"
     regulatory      2826..2831
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGIP"
                     /gene_synonym="C5orf53"
                     /note="hexamer: AATAAA"
     regulatory      2843..2848
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGIP"
                     /gene_synonym="C5orf53"
                     /note="hexamer: AATAAA"
     polyA_site      2844
                     /gene="IGIP"
                     /gene_synonym="C5orf53"
                     /note="major polyA site"
     polyA_site      2879
                     /gene="IGIP"
                     /gene_synonym="C5orf53"
     regulatory      3247..3252
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGIP"
                     /gene_synonym="C5orf53"
                     /note="hexamer: AATAAA"
     polyA_site      3272
                     /gene="IGIP"
                     /gene_synonym="C5orf53"
ORIGIN
        1 gaaagatttt tgagtctaca actgacaaaa tgtcttcttc aaattaaaaa aaattgagaa
       61 gcagcacttt aagtctaact ctacaccatt ttattgcatg tattagtttt attaatgatt
      121 tttggtgcat gcctttgggc ttattcaaaa gtgtacaata ggaaagtata tttcctttct
      181 tagaaaggag atgttttcta ctttgcaaca tgtgattaca aaaatcttcc tctgtgggaa
      241 gattaaccat gtattgaact actgaaaagt atatattttt agatatacag aaggaatcta
      301 catggagcag cattcagacc tatatagaag tcatagcatt ctgtatagga ccaaaaagga
      361 aataacatta aacacttaaa cagacgttgt tgggtagaaa tacctttaga tcttgcattt
      421 acttccaaaa agaaaaaatg ccacagaagt ttgctgaaaa cttttgtcgt ttgaattttc
      481 tctgtcagtg tatttagccc aaatacaaca gctttgggtt agcacacaca taagaatcaa
      541 aaaaacaaag ctcactaaat aaatcagtct ggtttgccaa tccagcttga ctgaaataag
      601 taaaccaatc acttgcaaca tgaaaaactg tccaactcct ctaaggttct gacaaaataa
      661 ccttggctga tgtgggaaga ctcccacttt gattactgac ctgacagtga agattcatgc
      721 ttgacatgat ttcagacttg acaatgtctg tttaaggagc tatggtacag tttgctaatt
      781 caatcccaga tacctgttga ttacctgtga gatctagagt ccaaagtagc cagcagccat
      841 atccctgagt gctctgtgcc catcagatat cttaaagtaa gcagggttgg gacaggtcac
      901 agcttggatg attgacctca ggtgccgtag acagccccag attcaagaat tgtatctgct
      961 ttcttggcag tcgtcactga actaatgtcc catactgtgt tacttactgt agatgctctc
     1021 ttttagagga ggcccagagc acacatccta atcgctagcg gtactcagag agggggtgct
     1081 aactctgatg ccctggccaa attccagttt agggatgtgg gtcttcttct tgtcattcta
     1141 attggaaatg tgcatcactt cccatttttc ttactgatct cagtgcaaac tacactagtc
     1201 tgtttctttg ccctggtctc aagtctctaa gacgctggtg tgtattatgt gggctaagtt
     1261 catgtgttat cctaaggcac aagagttgag gaatgggtga gcttggtgtc agagcactgt
     1321 gtggttggag ggtggactct tgtgatgctg tggggatgaa attggccctc ttttagcata
     1381 agttggggag tgtgcactgg ctggaggctt ccagaggctt ccagccatga ggtgtgagct
     1441 gaaaccaatt tttcctcttt ccttatagca tgttgagaaa atctgttggg ttttcagcag
     1501 tcagggaagg ccggagttct gctttaatct gggtaactga ggctaatatg agcaagactt
     1561 tggttaatta actgggttct cagatgccac agactccgtg agaagtcacc attattttca
     1621 atggttgtga tagaatttcc cccagtagcc attattttaa gattatattg cagagttgct
     1681 ttattttgag ctttttgtgt atacacaatc ccaaactgga agaaatttta aaaaaaggaa
     1741 tcctgctgtg aaaggtatat attactctag atttttctta ctgtaaatat tgtaagattg
     1801 taatactgtc gatattttat taaccaacaa atgttaatct atgtgaaatc agacttattt
     1861 taaatgtgct tcttatttac tgtgtgtggt ccctgttgct gacagtatta agttatattc
     1921 tgatgtaaga ttaactttat taaagaatgt aaacattaat gtttccttat gggaaaacaa
     1981 ataaagtata aagaagacaa ttcttttcat tgaaatatac tgtgtattta cacttgctag
     2041 acccagcacc acttataaat ttagtacact gttcagaatt ttagttaaca cagctgacat
     2101 ggttgtgctc tgtttgaaag tctaagaata ggtattgttg gaatatacag tttgtatttg
     2161 tctgctgtga atcataatct tgaaatttct aatcaagttt gtaaaatttt tatagtgaaa
     2221 cattttaatg acaatttaaa aatttatctt ctctaaagaa tggtcaaaac aatatccttt
     2281 cagaaataga attgttcttt aatatctttc caaaatgact ttggttaaat ggaccagatg
     2341 tatattagtt aaaatttagg actaagttgt tgatattctt tgagtttaca agttaatcct
     2401 tattggagat gtgccaatat acagttagaa tatcattaat ttgcactgtt tggggacccc
     2461 atttaagaat gctgaatttt gccaactaag aagtaagcaa atgcaattta aaaagtaaat
     2521 ttgagcattc tgtattaaat atgtgcagtt attatcacat gaagaaacgc agtgtgtcgg
     2581 gctgtaatat taccatattt gctgtcatgt tctcccatct cagtgctggg aaatcaccat
     2641 gtggaaacca agcaaacgtg ttgtgcatca gccggcttga gtttgttcaa tatcaaagct
     2701 gaaaactagc gaggtctgct gtactgctta ttgaagtatt gtgattattt taggcattga
     2761 ttcttacaaa atatatactg taacagtata ctttgtacag atttaaattt tatttgaaaa
     2821 aatgaaataa agtaggcaaa aaaataaaga tgtttatttt tcatgtgact gtataatcag
     2881 atcagtcttt tgtttcagtg ctttttgggg gaaggggtct ggttgcgatc ttggattttt
     2941 tttttttttg ataggtggaa actttttagg actcagtagc aggtatactt atgcttatga
     3001 attggctgca agcattaagt gtgctctcat actagagaac tctatcttct attttatttt
     3061 aaggtaggtt tgcttatttt taaaaatgtt atgtgaatgg cctccctatc ctggcatact
     3121 gggtcattta aaaaattctc tggtggtatg acagtgaacc tagccatcat gttgaagaga
     3181 agggaaacct tttcccaaag atcatgctcc attctcatgg aaggtttttt gttttctgtc
     3241 agttacaata aaaaaaatgt aattatcatg gatacatact agttatacat acttatgggg
     3301 tacatgtaac attttgaaac aagcgtacaa tgtactgatt aaatcaggat gattggggta
     3361 tccatcacct gaagtatgta taatttcttc gttttaggaa cattctaatt ccactcttag
     3421 ttatttgaaa tatataataa attattttta atagtt
//
LOCUS       NM_001007228            2850 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens speckle type BTB/POZ protein (SPOP), transcript variant
            4, mRNA.
ACCESSION   NM_001007228
VERSION     NM_001007228.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2850)
  AUTHORS   Cavalcante L, Deshmukh SK, Ribeiro JR, Carneiro BA, Dizon DS, Angara
            K, Mattox T, Wu S, Xiu J, Walker P, Oberley M, Nabhan C, Huang H and
            Antonarakis ES.
  TITLE     Opposing Roles of SPOP Mutations in Human Prostate and Endometrial
            Cancers
  JOURNAL   JCO Precis Oncol 7, e2300088 (2023)
   PUBMED   37677121
  REMARK    GeneRIF: Opposing Roles of SPOP Mutations in Human Prostate and
            Endometrial Cancers.
REFERENCE   2  (bases 1 to 2850)
  AUTHORS   Ali A, Nimisha, Sharma AK, Mishra PK and Saluja SS.
  TITLE     Clinical significance of SPOP and APC gene alterations in colorectal
            cancer in Indian population
  JOURNAL   Mol Genet Genomics 298 (5), 1087-1105 (2023)
   PUBMED   37289229
  REMARK    GeneRIF: Clinical significance of SPOP and APC gene alterations in
            colorectal cancer in Indian population.
REFERENCE   3  (bases 1 to 2850)
  AUTHORS   Schwartz I, Vunjak M, Budroni V, Cantoran Garcia A, Mastrovito M,
            Soderholm A, Hinterndorfer M, de Almeida M, Hacker K, Wang J,
            Froussios K, Jude J, Decker T, Zuber J and Versteeg GA.
  TITLE     SPOP targets the immune transcription factor IRF1 for proteasomal
            degradation
  JOURNAL   Elife 12, e89951 (2023)
   PUBMED   37622993
  REMARK    GeneRIF: SPOP targets the immune transcription factor IRF1 for
            proteasomal degradation. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2850)
  AUTHORS   Diop A, Pietrangeli P, Nardella C, Pennacchietti V, Pagano L, Toto
            A, Di Felice M, Di Matteo S, Marcocci L, Malagrino F and Gianni S.
  TITLE     Biophysical Characterization of the Binding Mechanism between the
            MATH Domain of SPOP and Its Physiological Partners
  JOURNAL   Int J Mol Sci 24 (12), 10138 (2023)
   PUBMED   37373284
  REMARK    GeneRIF: Biophysical Characterization of the Binding Mechanism
            between the MATH Domain of SPOP and Its Physiological Partners.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2850)
  AUTHORS   Sanada S, Maekawa M, Tate S, Nakaoka H, Fujisawa Y, Sayama K and
            Higashiyama S.
  TITLE     SPOP is essential for DNA replication licensing through maintaining
            translation of CDT1 and CDC6 in HaCaT cells
  JOURNAL   Biochem Biophys Res Commun 651, 30-38 (2023)
   PUBMED   36791496
  REMARK    GeneRIF: SPOP is essential for DNA replication licensing through
            maintaining translation of CDT1 and CDC6 in HaCaT cells.
REFERENCE   6  (bases 1 to 2850)
  AUTHORS   Diefenbach A, Tomasello E, Lucas M, Jamieson AM, Hsia JK, Vivier E
            and Raulet DH.
  TITLE     Selective associations with signaling proteins determine stimulatory
            versus costimulatory activity of NKG2D
  JOURNAL   Nat Immunol 3 (12), 1142-1149 (2002)
   PUBMED   12426565
  REMARK    Erratum:[Nat Immunol. 2004 Jun;5(6):658]
REFERENCE   7  (bases 1 to 2850)
  AUTHORS   Gilfillan S, Ho EL, Cella M, Yokoyama WM and Colonna M.
  TITLE     NKG2D recruits two distinct adapters to trigger NK cell activation
            and costimulation
  JOURNAL   Nat Immunol 3 (12), 1150-1155 (2002)
   PUBMED   12426564
REFERENCE   8  (bases 1 to 2850)
  AUTHORS   Zapata JM, Pawlowski K, Haas E, Ware CF, Godzik A and Reed JC.
  TITLE     A diverse family of proteins containing tumor necrosis factor
            receptor-associated factor domains
  JOURNAL   J Biol Chem 276 (26), 24242-24252 (2001)
   PUBMED   11279055
REFERENCE   9  (bases 1 to 2850)
  AUTHORS   Wu J, Song Y, Bakker AB, Bauer S, Spies T, Lanier LL and Phillips
            JH.
  TITLE     An activating immunoreceptor complex formed by NKG2D and DAP10
  JOURNAL   Science 285 (5428), 730-732 (1999)
   PUBMED   10426994
REFERENCE   10  (bases 1 to 2850)
  AUTHORS   Nagai Y, Kojima T, Muro Y, Hachiya T, Nishizawa Y, Wakabayashi T and
            Hagiwara M.
  TITLE     Identification of a novel nuclear speckle-type protein, SPOP
  JOURNAL   FEBS Lett 418 (1-2), 23-26 (1997)
   PUBMED   9414087
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.1597123.1,
            SRR18074967.2351554.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000504102.6/ ENSP00000425905.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX282325.1, BC001269.1,
            AK123385.1, W84567.1, BM693397.1, BQ226031.1 and AW449169.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001007228.1.
            Summary: This gene encodes a protein that may modulate the
            transcriptional repression activities of death-associated protein 6
            (DAXX), which interacts with histone deacetylase, core histones,
            and other histone-associated proteins. In mouse, the encoded
            protein binds to the putative leucine zipper domain of macroH2A1.2,
            a variant H2A histone that is enriched on inactivated X
            chromosomes. The BTB/POZ domain of this protein has been shown in
            other proteins to mediate transcriptional repression and to
            interact with components of histone deacetylase co-repressor
            complexes. Alternative splicing of this gene results in multiple
            transcript variants encoding the same protein. [provided by RefSeq,
            Jul 2008].
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. Transcript variants 1-6 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2850
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     gene            1..2850
                     /gene="SPOP"
                     /gene_synonym="BTBD32; NEDMACE; NEDMIDF; NSDVS1; NSDVS2;
                     TEF2"
                     /note="speckle type BTB/POZ protein"
                     /db_xref="GeneID:8405"
                     /db_xref="HGNC:HGNC:11254"
                     /db_xref="MIM:602650"
     misc_feature    196..198
                     /gene="SPOP"
                     /gene_synonym="BTBD32; NEDMACE; NEDMIDF; NSDVS1; NSDVS2;
                     TEF2"
                     /note="upstream in-frame stop codon"
     CDS             232..1356
                     /gene="SPOP"
                     /gene_synonym="BTBD32; NEDMACE; NEDMIDF; NSDVS1; NSDVS2;
                     TEF2"
                     /note="HIB homolog 1; roadkill homolog 1"
                     /codon_start=1
                     /product="speckle-type POZ protein"
                     /protein_id="NP_001007229.1"
                     /db_xref="CCDS:CCDS11551.1"
                     /db_xref="GeneID:8405"
                     /db_xref="HGNC:HGNC:11254"
                     /db_xref="MIM:602650"
                     /translation="MSRVPSPPPPAEMSSGPVAESWCYTQIKVVKFSYMWTINNFSFCR
                     EEMGEVIKSSTFSSGANDKLKWCLRVNPKGLDEESKDYLSLYLLLVSCPKSEVRAKFKF
                     SILNAKGEETKAMESQRAYRFVQGKDWGFKKFIRRDFLLDEANGLLPDDKLTLFCEVSV
                     VQDSVNISGQNTMNMVKVPECRLADELGGLWENSRFTDCCLCVAGQEFQAHKAILAARS
                     PVFSAMFEHEMEESKKNRVEINDVEPEVFKEMMCFIYTGKAPNLDKMADDLLAAADKYA
                     LERLKVMCEDALCSNLSVENAAEILILADLHSADQLKTQAVDFINYHASDVLETSGWKS
                     MVVSHPHLVAEAYRSLASAQCPFLGPPRKRLKQS"
     misc_feature    442..804
                     /gene="SPOP"
                     /gene_synonym="BTBD32; NEDMACE; NEDMIDF; NSDVS1; NSDVS2;
                     TEF2"
                     /note="propagated from UniProtKB/Swiss-Prot (O43791.1);
                     Region: Required for nuclear localization"
     misc_feature    598..630
                     /gene="SPOP"
                     /gene_synonym="BTBD32; NEDMACE; NEDMIDF; NSDVS1; NSDVS2;
                     TEF2"
                     /note="propagated from UniProtKB/Swiss-Prot (O43791.1);
                     Region: Important for binding substrate proteins"
     misc_feature    787..882
                     /gene="SPOP"
                     /gene_synonym="BTBD32; NEDMACE; NEDMIDF; NSDVS1; NSDVS2;
                     TEF2"
                     /note="propagated from UniProtKB/Swiss-Prot (O43791.1);
                     Region: Important for homodimerization"
     misc_feature    1120..1296
                     /gene="SPOP"
                     /gene_synonym="BTBD32; NEDMACE; NEDMIDF; NSDVS1; NSDVS2;
                     TEF2"
                     /note="propagated from UniProtKB/Swiss-Prot (O43791.1);
                     Region: Important for homodimerization"
     regulatory      2429..2434
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPOP"
                     /gene_synonym="BTBD32; NEDMACE; NEDMIDF; NSDVS1; NSDVS2;
                     TEF2"
                     /note="hexamer: TATAAA"
     polyA_site      2450
                     /gene="SPOP"
                     /gene_synonym="BTBD32; NEDMACE; NEDMIDF; NSDVS1; NSDVS2;
                     TEF2"
                     /note="major polyA site"
     regulatory      2826..2831
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPOP"
                     /gene_synonym="BTBD32; NEDMACE; NEDMIDF; NSDVS1; NSDVS2;
                     TEF2"
                     /note="hexamer: AATAAA"
     polyA_site      2850
                     /gene="SPOP"
                     /gene_synonym="BTBD32; NEDMACE; NEDMIDF; NSDVS1; NSDVS2;
                     TEF2"
ORIGIN
        1 gacgccccgg ctggtgtgtg tcggtgtgta tgtgtgtgtg tgagtgtgcg cgctccgagt
       61 gtgtgtgtat ttgtgtatcg gcggtcccgc aggtcccgga tgttgcggac agtatgaggc
      121 aagcgcaggg ggacggggac cagcagctgt cgccgccgct ctcagggtga agagggaaca
      181 gaaatctttg ccccctgact ttggaaatct cgtttaacct tcaaactggc gatgtcaagg
      241 gttccaagtc ctccacctcc ggcagaaatg tcgagtggcc ccgtagctga gagttggtgc
      301 tacacacaga tcaaggtagt gaaattctcc tacatgtgga ccatcaataa ctttagcttt
      361 tgccgggagg aaatgggtga agtcattaaa agttctacat tttcatcagg agcaaatgat
      421 aaactgaaat ggtgtttgcg agtaaacccc aaagggttag atgaagaaag caaagattac
      481 ctgtcacttt acctgttact ggtcagctgt ccaaagagtg aagttcgggc aaaattcaaa
      541 ttctccatcc tgaatgccaa gggagaagaa accaaagcta tggagagtca acgggcatat
      601 aggtttgtgc aaggcaaaga ctggggattc aagaaattca tccgtagaga ttttcttttg
      661 gatgaggcca acgggcttct ccctgatgac aagcttaccc tcttctgcga ggtgagtgtt
      721 gtgcaagatt ctgtcaacat ttctggccag aataccatga acatggtaaa ggttcctgag
      781 tgccggctgg cagatgagtt aggaggactg tgggagaatt cccggttcac agactgctgc
      841 ttgtgtgttg ccggccagga attccaggct cacaaggcta tcttagcagc tcgttctccg
      901 gtttttagtg ccatgtttga acatgaaatg gaggagagca aaaagaatcg agttgaaatc
      961 aatgatgtgg agcctgaagt ttttaaggaa atgatgtgct tcatttacac ggggaaggct
     1021 ccaaacctcg acaaaatggc tgatgatttg ctggcagctg ctgacaagta tgccctggag
     1081 cgcttaaagg tcatgtgtga ggatgccctc tgcagtaacc tgtccgtgga gaacgctgca
     1141 gaaattctca tcctggccga cctccacagt gcagatcagt tgaaaactca ggcagtggat
     1201 ttcatcaact atcatgcttc ggatgtcttg gagacctctg ggtggaagtc aatggtggtg
     1261 tcacatcccc acttggtggc tgaggcatac cgctctctgg cttcagcaca gtgccctttt
     1321 ctgggacccc cacgcaaacg cctgaagcaa tcctaagatc ctgcttgttg taagactccg
     1381 tttaatttcc agaagcagca gccactgttg ctgccactga ccaccaggta gacagcgcaa
     1441 tctgtggagc ttttactctg ttgtgagggg aagagactgc attgtggccc cagactttta
     1501 aaacagcact aaataacttg ggggaaacgg ggggagggaa aatgaaatga aaaccctgtt
     1561 gctgcgtcac tgtgttccct ttggcctggc tgagtttgat actgtgggga ttcagtttag
     1621 gcgctggccc gaggatatcc cagcggtggt acttcggaga cacctgtctg catctgactg
     1681 agcagaacaa atcgtcaggt gcctggagca aaaaggaaaa aaaaaaaaga aaggacattg
     1741 agttttaaca gaagggaaaa ggaaagaaga aaagattttt gcagaatttc tcaaaaatca
     1801 gtttgtggat tccagtagta tttatattga gagaaacaaa ttttagtcct tctaactgtg
     1861 ctaaaacttg gatatttgtg aaaactcctt accaccatac aagcatcaga agagctctct
     1921 tgttgttagc acttattgtt tgcaagaaca gaatacatcc ttttatcctt ttatgaaaaa
     1981 tgacaagtga aggcaaaagg ggaaggttat ttgatctgga agatgagtgt tctgatgtgg
     2041 tggcttttgc aaaaatcttt attggtgttg aaaactggaa aaaataactc atccagaatt
     2101 catattgtct tgacaagaac tatggttctc tgtttttaga tattgtggaa aatgtttttg
     2161 ggcatttttc tctgatttta tttcttctcc cccacccctt tttctaaaaa acaaacaaaa
     2221 aaaaaaacac acaaaacaaa aacagaacaa aagaagagag aaggaaattt tatcaattaa
     2281 aaatgctgtg tgataaaatc ccagcccaga ttgctcagct gtttgtacct gacttgccgc
     2341 ctgcatagga gccagttctg ttccttctga ctagcccctc ttcctccagg ggagaacttc
     2401 caaatgttaa tttttttttt tttgaaaata taaataatta ctattttgta ctgtgtggta
     2461 tctctggtct tttgtttcac tcacctgcct tgtctcttgg gtctgagtcc cttgcttaag
     2521 ggattttgaa gtcctagttt tcagcttgca gagattatgt ctgaaatgcc taatgagtcg
     2581 cagggatttg ttgagactcc gtaatctcaa gttctctttg tgagctatca gcatctgcca
     2641 gtctcttgtc ctccctgagt atctcacagt ccatatcctg atgagggatc aggcccctac
     2701 ctctgccaag gcaagtaatg gtagtgggct tttaaactgc cccccgtatg ttttaagacc
     2761 taatccccac ctcccttctt ctaactaaat ataaaaagat ccaggggaca taaatgtgga
     2821 gattaaataa agggaaatta ttgtctctaa
//
LOCUS       NM_001007231            2969 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript
            variant 1, mRNA.
ACCESSION   NM_001007231
VERSION     NM_001007231.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2969)
  AUTHORS   Han S, Jin X, Hu T and Chi F.
  TITLE     ARHGAP25 suppresses the development of breast cancer by an
            ARHGAP25/Wnt/ASCL2 feedback loop
  JOURNAL   Carcinogenesis 44 (5), 369-382 (2023)
   PUBMED   37326327
  REMARK    GeneRIF: ARHGAP25 suppresses the development of breast cancer by an
            ARHGAP25/Wnt/ASCL2 feedback loop.
REFERENCE   2  (bases 1 to 2969)
  AUTHORS   Wisniewski E, Czaran D, Kovacs F, Bahurek E, Nemeth A, Sasvari P,
            Szanda G, Pettko-Szandtner A, Klement E, Ligeti E and Csepanyi-Komi
            R.
  TITLE     A novel BRET-Based GAP assay reveals phosphorylation-dependent
            regulation of the RAC-specific GTPase activating protein ARHGAP25
  JOURNAL   FASEB J 36 (11), e22584 (2022)
   PUBMED   36190314
  REMARK    GeneRIF: A novel BRET-Based GAP assay reveals
            phosphorylation-dependent regulation of the RAC-specific GTPase
            activating protein ARHGAP25.
REFERENCE   3  (bases 1 to 2969)
  AUTHORS   Shi F, Wu J, Jia Q, Li K, Li W, Shi Y, Wang Y and Wu S.
  TITLE     Relationship between the expression of ARHGAP25 and RhoA in
            non-small cell lung cancer and vasculogenic mimicry
  JOURNAL   BMC Pulm Med 22 (1), 377 (2022)
   PUBMED   36207695
  REMARK    GeneRIF: Relationship between the expression of ARHGAP25 and RhoA in
            non-small cell lung cancer and vasculogenic mimicry. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 2969)
  AUTHORS   Huang WK, Chen Y, Su H, Chen TY, Gao J, Liu Y, Yeh CN and Li S.
  TITLE     ARHGAP25 Inhibits Pancreatic Adenocarcinoma Growth by Suppressing
            Glycolysis via AKT/mTOR Pathway
  JOURNAL   Int J Biol Sci 17 (7), 1808-1820 (2021)
   PUBMED   33994864
  REMARK    GeneRIF: ARHGAP25 Inhibits Pancreatic Adenocarcinoma Growth by
            Suppressing Glycolysis via AKT/mTOR Pathway. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 2969)
  AUTHORS   Tao L, Zhu Y, Gu Y, Zheng J and Yang J.
  TITLE     ARHGAP25: A negative regulator of colorectal cancer (CRC) metastasis
            via the Wnt/beta-catenin pathway
  JOURNAL   Eur J Pharmacol 858, 172476 (2019)
   PUBMED   31228451
  REMARK    GeneRIF: ARHGAP25 negatively regulates the metastatic potential of
            CRC cells via the Wnt/beta-catenin pathway
REFERENCE   6  (bases 1 to 2969)
  AUTHORS   Schlam D, Bagshaw RD, Freeman SA, Collins RF, Pawson T, Fairn GD and
            Grinstein S.
  TITLE     Phosphoinositide 3-kinase enables phagocytosis of large particles by
            terminating actin assembly through Rac/Cdc42 GTPase-activating
            proteins
  JOURNAL   Nat Commun 6, 8623 (2015)
   PUBMED   26465210
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2969)
  AUTHORS   Seppala I, Kleber ME, Lyytikainen LP, Hernesniemi JA, Makela KM,
            Oksala N, Laaksonen R, Pilz S, Tomaschitz A, Silbernagel G, Boehm
            BO, Grammer TB, Koskinen T, Juonala M, Hutri-Kahonen N, Alfthan G,
            Viikari JS, Kahonen M, Raitakari OT, Marz W, Meinitzer A and
            Lehtimaki T.
  CONSRTM   AtheroRemo Consortium
  TITLE     Genome-wide association study on dimethylarginines reveals novel
            AGXT2 variants associated with heart rate variability but not with
            overall mortality
  JOURNAL   Eur Heart J 35 (8), 524-531 (2014)
   PUBMED   24159190
REFERENCE   8  (bases 1 to 2969)
  AUTHORS   Takefuji M, Asano H, Mori K, Amano M, Kato K, Watanabe T, Morita Y,
            Katsumi A, Itoh T, Takenawa T, Hirashiki A, Izawa H, Nagata K,
            Hirayama H, Takatsu F, Naoe T, Yokota M and Kaibuchi K.
  TITLE     Mutation of ARHGAP9 in patients with coronary spastic angina
  JOURNAL   J Hum Genet 55 (1), 42-49 (2010)
   PUBMED   19911011
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2969)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of ARHGAP24 and ARHGAP25 genes
            in silico
  JOURNAL   Int J Mol Med 14 (2), 333-338 (2004)
   PUBMED   15254788
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.232243.1,
            SRR1803611.199095.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000409202.8/ ENSP00000386911.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CD695161.1, AK290396.1, AC097495.3 and BC032222.1.
            On May 17, 2019 this sequence version replaced NM_001007231.2.
            Summary: ARHGAPs, such as ARHGAP25, encode negative regulators of
            Rho GTPases (see ARHA; MIM 165390), which are implicated in actin
            remodeling, cell polarity, and cell migration (Katoh and Katoh,
            2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2969
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     gene            1..2969
                     /gene="ARHGAP25"
                     /gene_synonym="HEL-S-308; KAIA0053"
                     /note="Rho GTPase activating protein 25"
                     /db_xref="GeneID:9938"
                     /db_xref="HGNC:HGNC:28951"
                     /db_xref="MIM:610587"
     misc_feature    375..377
                     /gene="ARHGAP25"
                     /gene_synonym="HEL-S-308; KAIA0053"
                     /note="upstream in-frame stop codon"
     CDS             390..2330
                     /gene="ARHGAP25"
                     /gene_synonym="HEL-S-308; KAIA0053"
                     /note="isoform a is encoded by transcript variant 1; rho
                     GTPase-activating protein 25; rho-type GTPase-activating
                     protein 25; epididymis secretory protein Li 308; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="rho GTPase-activating protein 25 isoform a"
                     /protein_id="NP_001007232.2"
                     /db_xref="CCDS:CCDS33214.2"
                     /db_xref="GeneID:9938"
                     /db_xref="HGNC:HGNC:28951"
                     /db_xref="MIM:610587"
                     /translation="MSLKLPRNWDFNLKVEAAKIARSRSVMTGEQMAAFHPSSTPNPLE
                     RPIKMGWLKKQRSIVKNWQQRYFVLRAQQLYYYKDEEDTKPQGCMYLPGCTIKEIATNP
                     EEAGKFVFEIIPASWDQNRMGQDSYVLMASSQAEMEEWVKFLRRVAGTPCGAVFGQRLD
                     ETVAYEQKFGPHLVPILVEKCAEFILEHGRNEEGIFRLPGQDNLVKQLRDAFDAGERPS
                     FDRDTDVHTVASLLKLYLRDLPEPVVPWSQYEGFLLCGQLTNADEAKAQQELMKQLSIL
                     PRDNYSLLSYICRFLHEIQLNCAVNKMSVDNLATVIGVNLIRSKVEDPAVIMRGTPQIQ
                     RVMTMMIRDHEVLFPKSKDIPLSPPAQKNDPKKAPVARSSVGWDATEDLRISRTDSFSS
                     MTSDSDTTSPTGQQPSDAFPEDSSKVPREKPGDWKMQSRKRTQTLPNRKCFLTSAFQGA
                     NSSKMEIFKNEFWSPSSEAKAGEGHRRTMSQDLRQLSDSQRTSTYDNVPSLPGSPGEEA
                     SALSSQACDSKGDTLASPNSETGPGKKNSGEEEIDSLQRMVQELRKEIETQKQMYEEQI
                     KNLEKENYDVWAKVVRLNEELEKEKKKSAALEISLRNMERSREDVEKRNKALEEEVKEF
                     VKSMKEPKTEA"
     misc_feature    1455..1724
                     /gene="ARHGAP25"
                     /gene_synonym="HEL-S-308; KAIA0053"
                     /note="propagated from UniProtKB/Swiss-Prot (P42331.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1476..1478
                     /gene="ARHGAP25"
                     /gene_synonym="HEL-S-308; KAIA0053"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42331.2); phosphorylation site"
     misc_feature    1575..1577
                     /gene="ARHGAP25"
                     /gene_synonym="HEL-S-308; KAIA0053"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P42331.2); phosphorylation site"
     misc_feature    1608..1610
                     /gene="ARHGAP25"
                     /gene_synonym="HEL-S-308; KAIA0053"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8BYW1; propagated from
                     UniProtKB/Swiss-Prot (P42331.2); phosphorylation site"
     misc_feature    1797..2042
                     /gene="ARHGAP25"
                     /gene_synonym="HEL-S-308; KAIA0053"
                     /note="propagated from UniProtKB/Swiss-Prot (P42331.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1998..2000
                     /gene="ARHGAP25"
                     /gene_synonym="HEL-S-308; KAIA0053"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BYW1; propagated from
                     UniProtKB/Swiss-Prot (P42331.2); phosphorylation site"
     regulatory      2898..2903
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGAP25"
                     /gene_synonym="HEL-S-308; KAIA0053"
                     /note="hexamer: AACAAA"
     polyA_site      2923
                     /gene="ARHGAP25"
                     /gene_synonym="HEL-S-308; KAIA0053"
                     /note="major polyA site"
ORIGIN
        1 agttgtttat cacgacctca actcagtaag gcctgagatt ctttcgaaaa ggagctttgc
       61 ttcccatgac gcagagggaa gtgtcaactg ggatatttct ggtaaaactg aaagcaagaa
      121 aagcagggtg ctagcccctg tgggactgag ggtggaggct gggggagttt gggtgccatc
      181 ctccagtgac agatggatgg acctttcatc taagagaaag gaggagacac gttggcaaat
      241 cagcctcaag cctaagattg cttgtgaagc aatcataagg aggaacaaaa acagacacaa
      301 aaacagaggg aaagagtgaa aagacaagaa gggcgcaaac tgtgacagac tcaccgcttc
      361 actaactact cacttaaact ggaagcaaaa tgtccctaaa attgccaagg aactgggatt
      421 tcaacctgaa agtggaggct gcgaaaatag ctcggtcaag gagtgtgatg actggcgagc
      481 agatggctgc cttccatcca tcgtccaccc ccaacccgct ggagaggccc atcaagatgg
      541 gctggctgaa gaagcagagg tccatcgtga agaactggca gcagaggtac tttgtgctga
      601 gggcgcagca gctctactac tacaaggatg aagaggacac gaagccccag ggctgcatgt
      661 atctaccagg atgtacaatc aaggagatcg ccacaaaccc agaagaagct gggaagtttg
      721 tctttgaaat cattccagcc tcatgggacc agaatcgcat gggacaggac tcctatgtcc
      781 tcatggccag ctctcaggcg gagatggagg agtgggttaa attcctcagg agagttgctg
      841 gcacaccctg tggagcagtg tttggccagc gcttggatga gactgtggcc tatgaacaga
      901 aattcggccc ccatctggtg cccatcctgg tggagaaatg tgcagagttc atcctggagc
      961 acggccggaa tgaagagggc atcttccgtc tgcctgggca ggacaacctg gtgaagcagc
     1021 tgagagacgc ttttgatgct ggggagcggc cctcctttga cagagacaca gatgtgcaca
     1081 ctgtggcttc cctgttaaag ctctacctcc gagacctccc agagcccgtg gttccctgga
     1141 gccagtacga agggttcctg ctctgtgggc agctcacgaa tgcggatgag gcaaaggctc
     1201 agcaggagtt gatgaagcag ctctccatcc ttcctcgtga caactatagt ctcctgagct
     1261 acatctgcag gttcctacat gaaatacagc tgaactgtgc tgttaacaag atgagtgtgg
     1321 acaacctggc tactgtgatt ggtgtgaatc tcatcaggtc gaaggtcgaa gaccctgccg
     1381 tgatcatgag agggactcct cagatccaaa gagtgatgac tatgatgatc agagaccatg
     1441 aagtcctctt ccccaagtcc aaggatatac ccctgtcacc ccctgcccag aaaaatgacc
     1501 ccaagaaagc tccagtggcc cgaagctctg taggctggga tgccactgaa gacctccgaa
     1561 tttctaggac agacagcttc agtagcatga caagcgactc tgatacaacc agccccaccg
     1621 gacagcagcc gagcgatgcg tttccggagg acagcagcaa agtacccagg gaaaagccag
     1681 gagactggaa aatgcaatct cgtaaaagga ctcaaacact ccctaaccgg aaatgtttct
     1741 tgacatcagc ttttcagggt gccaacagca gcaaaatgga gatctttaaa aatgaattct
     1801 ggtcgccttc ctcagaggct aaggcagggg aagggcacag gagaacgatg tctcaagact
     1861 tgcgccaact ttctgactcc caacggactt ccacctacga taacgtccct tccctgccag
     1921 ggtcccctgg ggaggaagcc agtgcactct cttcccaagc ctgtgactcc aagggagata
     1981 ctcttgccag tccaaactct gaaactgggc ctggaaaaaa gaactctgga gaagaggaaa
     2041 ttgattcttt gcagaggatg gtccaagagc tacgaaagga aatagaaaca cagaagcaaa
     2101 tgtatgagga acagattaaa aaccttgaga aggaaaatta tgacgtttgg gctaaagtgg
     2161 tgaggctcaa tgaagaactg gagaaggaaa agaagaagtc tgcagcccta gagatcagcc
     2221 tccgcaacat ggagcgctcc cgggaggatg ttgagaagag gaacaaggcc ttggaagaag
     2281 aagtcaagga atttgtcaaa tccatgaagg aacccaagac cgaggcttaa gggtcccagg
     2341 agtactgcag ggacagcccc agagaggccc aactctggcc cctttctcag tgctatctga
     2401 tgacggggaa acaaaattat tctctgagag ggaaaggaca tttgagggaa acatcaaatt
     2461 tccccataaa taaatgaatg gagtttgcag gaaggtgagg gtgagcagag atgtgtgtgg
     2521 acatctctga ccatccatcg ctgtattcaa atggattgtt ttattccatt ctggtctcag
     2581 gcatgaccac gtccagtgaa gacatttgag gcagcacatc tcaggaccca ggcaatagac
     2641 tggccccaac tcaggctgga ctaaggtgtg attaattctt tgttttttgt gtggaacagc
     2701 tcaccttgtc agacagcctc agggcatctc tgagacacag gggcagaaaa tgacattcat
     2761 cttttgagtc ctcatccatg gagtgctgtg tttggggggc tgcatctgct gaagcgagaa
     2821 ccccattctg ccaccccacc aggatgccca ttctccagga cttctccaac ttactattag
     2881 actaaaccag aacaagcaac aaactgtatt tatgcaagca aaattgatga gaaaattata
     2941 ttcaaataaa gcaaaaatta aaaaaaaaa
//
LOCUS       NM_001007237            7235 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens immunoglobulin superfamily member 3 (IGSF3), transcript
            variant 2, mRNA.
ACCESSION   NM_001007237
VERSION     NM_001007237.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7235)
  AUTHORS   Schweitzer KS, Jinawath N, Yonescu R, Ni K, Rush N, Charoensawan V,
            Bronova I, Berdyshev E, Leach SM, Gillenwater LA, Bowler RP, Pearse
            DB, Griffin CA and Petrache I.
  TITLE     IGSF3 mutation identified in patient with severe COPD alters cell
            function and motility
  JOURNAL   JCI Insight 5 (14), 138101 (2020)
   PUBMED   32573489
  REMARK    GeneRIF: IGSF3 mutation identified in patient with severe COPD
            alters cell function and motility. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 7235)
  AUTHORS   Yuan Y, Yang L, Liu T, Zhang H and Lu Q.
  TITLE     Osteoclastogenesis inhibition by mutated IGSF23 results in human
            osteopetrosis
  JOURNAL   Cell Prolif 52 (6), e12693 (2019)
   PUBMED   31560140
  REMARK    GeneRIF: the IGSF23 mutation led to decreased c-Fos and NFATC1
            expression levels by inhibiting the mitogen-activated protein kinase
            signalling pathways
REFERENCE   3  (bases 1 to 7235)
  AUTHORS   Foster J 2nd, Kapoor S, Diaz-Horta O, Singh A, Abad C, Rastogi A,
            Moharana R, Tekeli O, Walz K and Tekin M.
  TITLE     Identification of an IGSF3 mutation in a family with congenital
            nasolacrimal duct obstruction
  JOURNAL   Clin Genet 86 (6), 589-591 (2014)
   PUBMED   24372406
  REMARK    GeneRIF: Based on IGSF3 mutation in a family with congenital
            nasolacrimal duct obstruction we conclude that the disruption of
            IGSF3 is the very likely cause of autosomal recessive nasolacrimal
            duct obstruction.
REFERENCE   4  (bases 1 to 7235)
  AUTHORS   Saupe S, Roizes G, Peter M, Boyle S, Gardiner K and De Sario A.
  TITLE     Molecular cloning of a human cDNA IGSF3 encoding an
            immunoglobulin-like membrane protein: expression and mapping to
            chromosome band 1p13
  JOURNAL   Genomics 52 (3), 305-311 (1998)
   PUBMED   9790749
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC110651.1, SRR18074969.499751.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369486.8/ ENSP00000358498.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC110651.1, AB007935.2 and
            AI968231.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001007237.2.
            Summary: The protein encoded by this gene is an immunoglobulin-like
            membrane protein containing several V-type Ig-like domains. A
            mutation in this gene has been associated with bilateral
            nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun
            2016].
            Transcript Variant: This variant (2) differs in the 5' UTR and
            lacks an alternate in-frame exon, compared to variant 1. The
            encoded isoform (2) is shorter than isoform 1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7235
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.1"
     gene            1..7235
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="immunoglobulin superfamily member 3"
                     /db_xref="GeneID:3321"
                     /db_xref="HGNC:HGNC:5950"
                     /db_xref="MIM:603491"
     misc_feature    684..686
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="upstream in-frame stop codon"
     CDS             747..4331
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; glu-Trp-Ile EWI motif-containing protein 3; immunoglobin
                     superfamily, member 3"
                     /codon_start=1
                     /product="immunoglobulin superfamily member 3 isoform 2
                     precursor"
                     /protein_id="NP_001007238.1"
                     /db_xref="CCDS:CCDS30813.1"
                     /db_xref="GeneID:3321"
                     /db_xref="HGNC:HGNC:5950"
                     /db_xref="MIM:603491"
                     /translation="MKCFFPVLSCLAVLGVVSAQRQVTVQEGPLYRTEGSHITIWCNVS
                     GYQGPSEQNFQWSIYLPSSPEREVQIVSTMDSSFPYAIYTQRVRGGKIFIERVQGNSTL
                     LHITDLQARDAGEYECHTPSTDKQYFGSYSAKMNLVVIPDSLQTTAMPQTLHRVEQDPL
                     ELTCEVASETIQHSHLSVAWLRQKVGEKPVEVISLSRDFMLHSSSEYAQRQSLGEVRLD
                     KLGRTTFRLTIFHLQPSDQGEFYCEAAEWIQDPDGSWYAMTRKRSEGAVVNVQPTDKEF
                     TVRLETEKRLHTVGEPVEFRCILEAQNVPDRYFAVSWAFNSSLIATMGPNAVPVLNSEF
                     AHREARGQLKVAKESDSVFVLKIYHLRQEDSGKYNCRVTEREKTVTGEFIDKESKRPKN
                     IPIIVLPLKSSISVEVASNASVILEGEDLRFSCSVRTAGRPQGRFSVIWQLVDRQNRRS
                     NIMWLDRDGTVQPGSSYWERSSFGGVQMEQVQPNSFSLGIFNSRKEDEGQYECHVTEWV
                     RAVDGEWQIVGERRASTPISITALEMGFAVTAISRTPGVTYSDSFDLQCIIKPHYPAWV
                     PVSVTWRFQPVGTVEFHDLVTFTRDGGVQWGDRSSSFRTRTAIEKAESSNNVRLSISRA
                     SDTEAGKYQCVAELWRKNYNNTWTRLAERTSNLLEIRVLQPVTKLQVSKSKRTLTLVEN
                     KPIQLNCSVKSQTSQNSHFAVLWYVHKPSDADGKLILKTTHNSAFEYGTYAEEEGLRAR
                     LQFERHVSGGLFSLTVQRAEVSDSGSYYCHVEEWLLSPNYAWYKLAEEVSGRTEVTVKQ
                     PDSRLRLSQAQGNLSVLETRQVQLECVVLNRTSITSQLMVEWFVWKPNHPERETVARLS
                     RDATFHYGEQAAKNNLKGRLHLESPSPGVYRLFIQNVAVQDSGTYSCHVEEWLPSPSGM
                     WYKRAEDTAGQTALTVMRPDASLQVDTVVPNATVSEKAAFQLDCSIVSRSSQDSRFAVA
                     WYSLRTKAGGKRSSPGLEEQEEEREEEEEEDDDDDDDPTERTALLSVGPDAVFGPEGSP
                     WEGRLRFQRLSPVLYRLTVLQASPQDTGNYSCHVEEWLPSPQKEWYRLTEEESAPIGIR
                     VLDTSPTLQSIICSNDALFYFVFFYPFPIFGILIITILLVRFKSRNSSKNSDGKNGVPL
                     LWIKEPHLNYSPTCLEPPVLSIHPGAID"
     sig_peptide     747..803
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     804..4328
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /product="Immunoglobulin superfamily member 3.
                     /id=PRO_0000320134"
                     /note="propagated from UniProtKB/Swiss-Prot (O75054.3)"
     misc_feature    873..875
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O75054.3); glycosylation site"
     misc_feature    1494..1502
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="propagated from UniProtKB/Swiss-Prot (O75054.3);
                     Region: EWI motif"
     misc_feature    1998..2000
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O75054.3); glycosylation site"
     misc_feature    2709..2711
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O75054.3); glycosylation site"
     misc_feature    3270..3272
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O75054.3); glycosylation site"
     misc_feature    3735..3845
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="propagated from UniProtKB/Swiss-Prot (O75054.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3975..3977
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O75054.3); glycosylation site"
     misc_feature    4119..4181
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="propagated from UniProtKB/Swiss-Prot (O75054.3);
                     transmembrane region"
     polyA_site      6675
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
     regulatory      7216..7221
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="hexamer: AGTAAA"
     polyA_site      7235
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="major polyA site"
ORIGIN
        1 agcgcggctg ctggtgccgt tgcgggagaa gaggaagcgg cgcgtcccct gaggcgtgcg
       61 cctggatgga ctgaaggacg gtccgacgcg cgcggaggga gagggccagg ggcgagaaat
      121 ctgctcgcgc tggggtaccg cttcagggct gccgaacgcc aacttgcttc gtgtgcccta
      181 ggcaggcgtg gggcaggtgg cgcctccgtg acctaccacc atggatggaa acggactttt
      241 tggtgaagaa acccaaacgg ttgatgccag gcagggtgat ttggccgtca aaggttttga
      301 cgaaacctgc cctgttctct ctggggaatc cgaatgaggg agatcacaga caccttcact
      361 gagaagccaa ggacatttct gtataatcag tggatgaaag gattttctca gacccttttt
      421 tccgtgcttc tggaggatta atccactaca gtctgcaatt tcagtggaaa ctgcaaggca
      481 cacgatgtgg caggagccgg gagcgacttc cgaattgttg tggacccttc ctgtagcata
      541 ggggagtttt cacacttgcc tccactcctc cccttccccc caactccctc cttctgatct
      601 cttcttttta atctgttccc attttccgag ttaagttcta tttccaaaac tgttctctgg
      661 agctataagt ggattgccag aaatgagaga ttaggagctg ggagaagagg aagcgccttg
      721 tgttgtgtct cctggaggct gccgacatga agtgcttttt cccggtgctg agctgtctgg
      781 ctgtgctggg tgtggtgtca gcacagcggc aggtcaccgt tcaggaagga cccttgtacc
      841 gcacggaggg ctcccacatc actatctggt gcaatgtgag tggctaccag ggaccttctg
      901 agcagaattt ccagtggtcc atttacctgc cttcgtcgcc agagcgagag gtgcagatcg
      961 tcagcaccat ggactcttcc ttcccctatg ccatctacac ccagcgcgtc cgcggaggga
     1021 agatcttcat agaaagagtc caggggaact caaccctatt gcacatcaca gatcttcagg
     1081 cccgggatgc cggggagtat gaatgccaca cacccagcac tgataagcaa tactttggga
     1141 gttacagtgc aaagatgaac ctagtggtga tcccagactc cctgcagacc actgccatgc
     1201 cccagactct gcacagagtg gagcaggacc cgctggagct cacttgtgag gtggcctcag
     1261 agaccattca gcacagccac ctgtctgtgg cctggctccg gcagaaagtt ggcgagaagc
     1321 ccgtggaggt catctccctg agccgagatt tcatgcttca ctccagcagc gaatatgccc
     1381 agaggcagag cctgggggag gtgcggctgg acaagctggg gaggaccacc ttccgcctca
     1441 ccatcttcca cctgcagcct tctgaccagg gcgaattcta ctgcgaggcc gccgagtgga
     1501 tccaggatcc ggatgggtcg tggtatgcta tgacccgaaa gcgttccgag ggagccgtgg
     1561 tcaacgtcca gccaactgac aaagaattca ctgttcggct ggagacagag aagcggctgc
     1621 acacggtggg cgagccggtg gagttcagat gcatcctgga ggctcagaat gttcccgacc
     1681 gttactttgc tgtctcctgg gccttcaaca gctcgctcat cgccaccatg ggtcctaacg
     1741 ctgtgcctgt cctcaacagc gaatttgctc accgggaagc caggggacag cttaaggtgg
     1801 ccaaagagag cgacagtgtc tttgtgctga agatctacca cctccgccag gaagatagcg
     1861 ggaaatacaa ctgccgggtg actgagcgag agaaaaccgt gaccggggaa ttcattgata
     1921 aggagagcaa gcgtcccaag aacatcccca tcatagtcct ccccctcaag agcagcatct
     1981 ccgtggaggt ggccagcaat gccagcgtca tccttgaggg cgaggacctg cgcttctcct
     2041 gcagtgtccg cacggcaggc aggccgcagg gtcgcttctc tgtcatctgg cagcttgtgg
     2101 acaggcagaa ccgccgcagc aatatcatgt ggctagaccg ggatggcacc gtgcagccag
     2161 gctcgtccta ctgggagcgc agcagctttg ggggcgtcca gatggagcag gtgcagccca
     2221 actcgttcag cctgggcatc ttcaacagca ggaaggagga cgagggccag tatgaatgcc
     2281 atgtgactga atgggtgcgg gcagtggatg gcgagtggca gattgttggg gagcgccggg
     2341 ccagcactcc catctccatc acagctcttg aaatgggctt cgcagtcaca gccatctccc
     2401 ggacaccggg ggtgacctac agcgactcct ttgacttgca gtgtatcatc aaaccccact
     2461 accctgcctg ggtccccgtg tcggtgacat ggcggttcca gccggtgggc acggtggagt
     2521 tccatgactt ggtgaccttc acccgggacg gaggggtcca gtggggggac aggtcctcca
     2581 gcttccgaac ccgaactgcc atcgagaagg ctgagtccag caacaacgtc cgcctaagca
     2641 tcagccgagc cagtgacacg gaagcaggca agtaccagtg tgtggcagag ctgtggcgga
     2701 agaactacaa caacacctgg acgcgactgg cggagaggac ctccaacctg ctggagatca
     2761 gggtgctgca gccagtgaca aagctgcagg tgagcaaatc gaagaggacc ctcaccctgg
     2821 tggaaaacaa gcccattcag ttgaactgct cagtcaagtc tcagactagc cagaactccc
     2881 actttgcggt gctctggtat gtccacaagc cctcggatgc cgatggcaag cttatcctga
     2941 agaccaccca caactccgcc tttgaatacg gtacttacgc cgaggaggag ggcctgagag
     3001 ccaggctcca gtttgagagg catgtgtcgg ggggcctgtt cagcctcacc gtccagagag
     3061 ccgaggtcag cgacagcggc agctactact gccacgtgga ggagtggctg ctgagcccca
     3121 actacgcctg gtacaagctg gcagaggagg tttctgggcg cacagaagtc actgtgaaac
     3181 agccagacag ccgcctgagg ctcagccaag cccaggggaa cctgtcggtt ctggagaccc
     3241 ggcaggtaca gctggagtgt gtggttctca accgcaccag cataacctcc cagctcatgg
     3301 tggaatggtt tgtatggaag cccaaccacc ctgagcggga gactgtggcc cgcttgagcc
     3361 gtgacgccac cttccactat ggagagcagg cagccaagaa caatctgaag gggcggctgc
     3421 atttggagag tccttccccc ggcgtgtacc gtctcttcat ccagaacgtg gctgtgcagg
     3481 acagcgggac ctacagctgc catgtggagg agtggctgcc cagccccagt ggcatgtggt
     3541 ataagcgggc agaggacacc gctgggcaga cagctctgac agtcatgcga ccagatgctt
     3601 ccctgcaggt ggacacagtg gtccccaatg ccacggtctc tgagaaggca gctttccagc
     3661 tggactgtag catcgtgtcc cgctccagcc aggactcccg cttcgctgtg gcctggtatt
     3721 ccctgaggac taaagctggg gggaaaagga gcagccctgg cctggaagaa caggaagagg
     3781 aaagggagga ggaggaggag gaggacgacg acgacgacga cgacccaaca gagcggacgg
     3841 ccctgctgag cgtgggccca gatgctgtct ttggcccaga gggcagtcct tgggagggca
     3901 ggcttcgctt ccagaggctc tccccggtgc tctaccggct cacagtgctg caggcaagcc
     3961 cccaagatac aggcaattac tcctgccatg tggaggagtg gctgcccagc cctcagaagg
     4021 aatggtaccg gctgacggag gaggagtcag cccccatcgg catccgtgtt ctagatacaa
     4081 gtcccaccct ccagtccatc atctgctcca acgacgcact cttctacttc gtcttcttct
     4141 accctttccc catctttggc attcttatca tcaccatcct tctggtgcgt ttcaagagcc
     4201 ggaactccag caagaactct gatgggaaga atggggtgcc tctgctgtgg atcaaagagc
     4261 cacacctcaa ctactcccct acttgcctgg agccccctgt tctcagtatc catccagggg
     4321 ccatagacta agcgggtgat gccccagcgg atgttggcca cggaggagct gaggctctcc
     4381 ctttctctgt gattggacag ttgacagcac ccaaactctg gggtgcatgt gtgtggaaag
     4441 ttgtcagact tgaaaagtgt tccaagttcc cagtcagtca cagagacaga ctgcctctcg
     4501 gtggcagtct tggttggtta gctatttgcg cgcaaatgtt gtgatcctgc cattatagat
     4561 ttcttgtttc tgtttttagt aatgtagtga gtagctccag gtgccacatc tactcacaga
     4621 tttatctagt attctcagat agatgttaca gggcttctta ttctttgtaa tgtactcttt
     4681 ttaaatccct ttagtttacc ctttttggat tccttaatgt ggacgaattt ctcttacgta
     4741 caactgacag caaaaggaag ggcgaacttt ctagtgacaa ggaatctctt ccaagacttt
     4801 gtttttgcac atttgaaaat gccacccatg gatcaaaata tacccaaacg ttttttactt
     4861 tcttaacaag acttaagaat tgtgtgtagt gtgggcaaaa tttgtatgtt gtcttttccc
     4921 tcagctggag ttattggaac cactttgtag tcaagacgaa agcactgaat tttgcttcaa
     4981 agaactgtgt atgtacaaga gaaatcctgc ataaccccat taggagtaga tggtgcccgg
     5041 cctatctgtc agggaggcaa aaaaggcttc atcccatcct tgccaaaaaa taagaaaact
     5101 gtcttggaga atgggtcaga agccccaaac ggcacacact ttccaaatta aagtgggcag
     5161 gggctgcttt tagcagctgc tgacctgcag atttgtcaaa gccagtgact agagaaggaa
     5221 gggagaaagg ctggctgttg gcttgctctg agctgcaagg atggtctcta actgattaac
     5281 tgtgagcagg tgggcctgtg tcttcaggtg ctttgccaaa ctcttaaaag aaagtgtcca
     5341 gtgaacttgg aagtgggccc ctgagctgag cacagggcca aagcagccat ggcagacacc
     5401 tgacggaggg cacggggctg gctgacacta agtttggtgg gacagtgagg ggtgggaggg
     5461 gggtttccag ggcctggtgt tggagagtgc agagaaatat ctacctccct ggaggtgtga
     5521 agactaggtt tttcttcttc cttccaatta gattttcctt aattatagtg atgtcttcct
     5581 tattcatttt tctctccctg cctctcactg ccataagaat atcagcctgg gggcagtcca
     5641 gacgcagccc tttgtcatcc tttctgtttg cctagtctca gcagactgtg atcacaaggc
     5701 attgtctgtg ggatttttcc tttccctttc ttgatctctc ttgtggttct aggttgtttg
     5761 gttgttcatt gttatggtgg ctttttattt taacgcccct tgagccccat gatggctggt
     5821 gtcaccctgt tcttttacac tgttgggcca ggtgctgctt gtccttctta gggcatcatc
     5881 aattgcaaat atttcctttt gctcccttta tgaagatgtt cttataccct tgctttccca
     5941 tatttttctg gccaagcatg ccatctcctt tactctggga acttacatcc tgaatcccaa
     6001 gagggggtca cagtttggaa aaagtcatca gggattctgg aactaagtct gataaaagat
     6061 tccagtgaag ccctgttctg agaacgagca gactgcaggg gaggccatgg gattccccag
     6121 gccagtgtct gtgctgatcc ttcaagggtc tgcaggtatg caggtggcct gggctgctcg
     6181 gcagatactt tgctgattcc cagctgaggg gagcatggtg gcgattgctc agccattttc
     6241 tgacagacac acagacctgc cttttctccc ccaagtatac cgtaccctcc tgtgagacag
     6301 tgtgtgcagg caccaccacc ttaatcctgc tgttgcctga catgctgatt ctcatttatt
     6361 atgctgcatc aacacattag aggtacagga gcggctcagt catgaaaaaa gaaggtcttt
     6421 tgccccattt ctttatttca gagatgtggg ctttcagtgg gaatttgctg actcctactt
     6481 tataggctga gtcaatgagg gaagatgact ggcgtttcct ctgtctaaat gggaggttgc
     6541 cagagcgctg gctgggacta ggatgtgtaa ctaagatttc agtttgaaat cttagatttc
     6601 agttcacggc gataaagaag taggtgctgc acacaaatat gtaaagcaat tgtaggaaat
     6661 ttgaaaggaa aaaaagaaac cgaagccagt attttaataa ttgctttttc tgtgtatttt
     6721 gtattgggct gggggatagc atcaaaggtt gaactttttg agctttctat gaaaaacccc
     6781 aggaccttct ttctttggcc atttctatgg aaatgcgatg tcagatggat ggtaatggtg
     6841 ccctccagtg gctgtgagac ctcattgcgc attgtctact ggagctttag tcttctgaga
     6901 cggaggaaaa ctgctgaata ctctggattc atctatgtct acaatgttgc atttatgaaa
     6961 aactacactg tgctaggcgc attctaggac atgaatatga ccacaccctc tttcaccggg
     7021 tgtttctgta gcaagttttc atattctttt caaacaatgg tttctctgcg ttaattattg
     7081 aggaaaaaaa aagatggggt aagaaaacta cccatgcatg atgtagagag ctgttgattt
     7141 gtttctgttt ttttaaagga aaactatttg taagatgttg cactaaaaca ttttatatac
     7201 acttcagaga cctgtagtaa attatgttga aaata
//
LOCUS       NM_001007248            3102 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 599 (ZNF599), mRNA.
ACCESSION   NM_001007248
VERSION     NM_001007248.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3102)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK055225.1, SRR1803611.15021.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000329285.13/ ENSP00000333802.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK055225.1 and AC020910.7.
            On Nov 22, 2018 this sequence version replaced NM_001007248.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3102
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..3102
                     /gene="ZNF599"
                     /note="zinc finger protein 599"
                     /db_xref="GeneID:148103"
                     /db_xref="HGNC:HGNC:26408"
     misc_feature    99..101
                     /gene="ZNF599"
                     /note="upstream in-frame stop codon"
     CDS             375..2141
                     /gene="ZNF599"
                     /codon_start=1
                     /product="zinc finger protein 599"
                     /protein_id="NP_001007249.1"
                     /db_xref="CCDS:CCDS32991.1"
                     /db_xref="GeneID:148103"
                     /db_xref="HGNC:HGNC:26408"
                     /translation="MAAPALALVSFEDVVVTFTGEEWGHLDLAQRTLYQEVMLETCRLL
                     VSLGHPVPKPELIYLLEHGQELWTVKRGLSQSTCAGEKAKPKITEPTASQLAFSEESSF
                     QELLAQRSSRDSRLGQARDEEKLIKIQEGNLRPGTNPHKEICPEKLSYKHDDLEPDDSL
                     GLRVLQERVTPQDALHECDSQGPGKDPMTDARNNPYTCTECGKGFSKKWALVRHQQIHA
                     GVKPYECNECGKACRYMADVIRHMRLHTGEKPYKCIECGKAFKRRFHLTEHQRIHTGDK
                     PYECKECGKAFTHRSSFIQHNMTHTREKPFLCKECGKAFYYSSSFAQHMRIHTGKKLYE
                     CGECGKAFTHRSTFIQHNVTHTGEKPFLCKECGKTFCLNSSFTQHMRIHTGEKPYECGE
                     CGKAFTHRSTFIRHKRTHTGEKPFECKECGKAFCDSSSLIQHMRIHTGEKPYECSECGK
                     AFTHHSVFIRHNRTHSGQKPLECKECAKAFYYSSSFTRHMRIHTGEKPYVCRECGKAFT
                     QPANFVRHNRIHTGEKPFECKECEKAFCDNFALTQHMRTHTGEKPFECNECGKTFSHSS
                     SFTHHRKIHTRV"
     regulatory      3079..3084
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF599"
                     /note="hexamer: AATAAA"
     polyA_site      3102
                     /gene="ZNF599"
                     /note="major polyA site"
ORIGIN
        1 cggcgtccag tcttcgtccg ccgttaggtt gcggctgctg tggttgccaa cgctacactg
       61 ggtagaacgc cagacagggg ccacttttcg agaccgagta gagacggaca gtgaggagga
      121 taggacccac ttacacgctt ttatgtcagc cgcgatccca cccccacaag cgtctgcaaa
      181 acccttcctg gggccttggc gacagccctg tgtcctcacg gcgcgcagag gcggcgccgc
      241 gaaccttgtg tgcattttac acgacggcgg ggactgaggt ccctcgcagc ccagagccgg
      301 agcccggggt cggccgagcc cgcaggaccg gcttcctcgc cgactctcac ggcctcaccc
      361 agccccctgg gcccatggcg gcgccggcgt tggcattagt atcatttgaa gacgtggttg
      421 tgaccttcac tggagaggaa tgggggcacc tggacctggc ccagaggacc ctgtaccagg
      481 aggtgatgct ggagacctgc aggctcctgg tctcactggg gcatcctgtt cccaaaccag
      541 agctgatcta tctactggaa catggacagg aactgtggac agtgaagaga ggcctctccc
      601 aaagcacctg cgcaggtgaa aaagcaaaac ccaagattac agagcctact gcttctcagc
      661 tggccttctc tgaggaatcc tctttccagg aacttctggc acagagatcc tcaagagatt
      721 ccaggttggg gcaagctaga gatgaggaaa agctaataaa aattcaggaa gggaacttga
      781 ggccaggaac aaacccccac aaagagatat gccctgagaa gttgagttat aaacatgatg
      841 atttggagcc agatgatagt ctgggcttaa gggttttaca ggaacgagtc actccacaag
      901 atgctctcca tgagtgtgac tctcaaggac caggaaaaga ccccatgact gatgcaagga
      961 ataaccctta cacatgcacg gaatgtggga aagggtttag caagaagtgg gcccttgttc
     1021 ggcatcaaca gattcatgct ggagtgaagc cctatgagtg caatgagtgt gggaaagcct
     1081 gtcgttatat ggctgatgtc attcgacata tgaggcttca tactggggaa aaaccataca
     1141 agtgtattga gtgtgggaaa gccttcaaac gcaggtttca cctcacggag caccagcgta
     1201 ttcacaccgg agataagccc tatgagtgca aagaatgtgg caaagcattc acccaccgct
     1261 cttcttttat ccagcataat atgactcaca ctcgagaaaa acccttttta tgcaaagaat
     1321 gtgggaaagc tttttactac agctcctcat ttgctcaaca tatgaggatt catactggaa
     1381 agaaactcta tgagtgcggt gaatgtggaa aggccttcac gcaccgctcc acatttatcc
     1441 agcacaatgt gacccacaca ggagaaaaac catttttatg taaagaatgt ggaaaaacct
     1501 tttgcctcaa ctcatccttc actcagcaca tgaggattca cactggagag aaaccctatg
     1561 agtgcggtga atgtggaaag gcctttactc atcgctccac tttcatccga cataagagga
     1621 cccataccgg agagaagccc tttgagtgca aagaatgtgg gaaggccttt tgtgacagct
     1681 cttccttaat tcaacatatg aggattcaca ctggtgagaa gccttatgag tgcagtgaat
     1741 gtggaaaggc ttttacacac cactctgttt ttattcgaca taataggacc cacagtggac
     1801 aaaaaccctt ggagtgcaaa gaatgtgcaa aagcctttta ctatagctct tccttcactc
     1861 gacacatgag gattcacact ggagagaagc cctatgtttg tagagaatgt ggaaaggctt
     1921 ttacccaacc tgcaaatttt gttcggcata ataggatcca cactggagaa aaaccttttg
     1981 aatgcaaaga atgtgagaaa gccttctgtg acaactttgc tttaactcag cacatgagaa
     2041 ctcacactgg agagaaaccc tttgaatgca atgaatgtgg aaagaccttc agccacagtt
     2101 catcgttcac tcaccatcga aagattcata ccagagttta aaagatacag gaaggcctat
     2161 tacaagtgtg tttgtcttta gtgaactcat agtggtgaca tacctttcct tttgagtata
     2221 actattgagg gaaatatttt ggccagagag atgtcttagt atctgataat ttatactaac
     2281 tagaaacaga attgtccctg tgaaatcttt ttatggcagg taatcacttg tcatccaaag
     2341 aattatatta aagattcacc cagtttagag ccttacactg tacctgagaa taatcgaggg
     2401 gagagacctg gtggttaaca tgcatttagg taaaatgtca ggaacaactt tcctcttatt
     2461 aatactataa atccatctca agcatatttt aaaataatga gagatggagg aaacaatcta
     2521 gaagataaaa gaaaaagatg tgcataactt gttttcagtt tccctgttta tgacagtttg
     2581 tcatttggcg ggttggggga tggagcaggg aataagacat tgaaaaagtc tcatcccctt
     2641 tgtgtgtttt acatatatat atctctaagt ccagagccag gagagttgga ccattgaggg
     2701 cagctctgcc aacatttagt aaaagtattc attgttccaa aactgtcatc tctacccttg
     2761 agggagtgtg tctttgtgag aaatataaag gcttgagtca tgaaatactt aacacatgtg
     2821 cacatgtaca catgtacatt tatatgcagt gaattgttac tcgtggtagt taggttctgt
     2881 gaattttctg tgcacactga attagtgaat gctgaatgat tgttgctagg ggaaatacag
     2941 cgttagcttc tgtgagcctc tgatccaaac atttttatca accagtcaac acataacctt
     3001 cttctatggg tatttgtttg tttgtttgtt taaagacact ttatcagtgt ttcttgaata
     3061 attataatta ttctttataa taaaaatatt ttaattatag ca
//
LOCUS       NM_001007253            3206 bp    mRNA    linear   PRI 29-JAN-2023
DEFINITION  Homo sapiens endogenous retrovirus group 3 member 1, envelope
            (ERV3-1), transcript variant 1, mRNA.
ACCESSION   NM_001007253
VERSION     NM_001007253.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3206)
  AUTHORS   Alldredge J, Kumar V, Nguyen J, Sanders BE, Gomez K, Jayachandran K,
            Zhang J, Schwarz J and Rahmatpanah F.
  TITLE     Endogenous Retrovirus RNA Expression Differences between Race, Stage
            and HPV Status Offer Improved Prognostication among Women with
            Cervical Cancer
  JOURNAL   Int J Mol Sci 24 (2), 1492 (2023)
   PUBMED   36675007
  REMARK    GeneRIF: Endogenous Retrovirus RNA Expression Differences between
            Race, Stage and HPV Status Offer Improved Prognostication among
            Women with Cervical Cancer. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3206)
  AUTHORS   Roberts RM, Ezashi T, Schulz LC, Sugimoto J, Schust DJ, Khan T and
            Zhou J.
  TITLE     Syncytins expressed in human placental trophoblast
  JOURNAL   Placenta 113, 8-14 (2021)
   PUBMED   33504453
  REMARK    Review article
REFERENCE   3  (bases 1 to 3206)
  AUTHORS   Nakagawa S, Kawashima M, Miyatake Y, Kudo K, Kotaki R, Ando K and
            Kotani A.
  TITLE     Expression of ERV3-1 in leukocytes of acute myelogenous leukemia
            patients
  JOURNAL   Gene 773, 145363 (2021)
   PUBMED   33338509
  REMARK    GeneRIF: Expression of ERV3-1 in leukocytes of acute myelogenous
            leukemia patients.
REFERENCE   4  (bases 1 to 3206)
  AUTHORS   Bustamante Rivera YY, Brutting C, Schmidt C, Volkmer I and Staege
            MS.
  TITLE     Endogenous Retrovirus 3 - History, Physiology, and Pathology
  JOURNAL   Front Microbiol 8, 2691 (2018)
   PUBMED   29379485
  REMARK    Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3206)
  AUTHORS   Herve CA, Forrest G, Lower R, Griffiths DJ and Venables PJ.
  TITLE     Conservation and loss of the ERV3 open reading frame in primates
  JOURNAL   Genomics 83 (5), 940-943 (2004)
   PUBMED   15081124
  REMARK    GeneRIF: molecular evolution and comparison with other primates
REFERENCE   6  (bases 1 to 3206)
  AUTHORS   Venables PJ, Brookes SM, Griffiths D, Weiss RA and Boyd MT.
  TITLE     Abundance of an endogenous retroviral envelope protein in placental
            trophoblasts suggests a biological function
  JOURNAL   Virology 211 (2), 589-592 (1995)
   PUBMED   7645262
REFERENCE   7  (bases 1 to 3206)
  AUTHORS   Kato N, Shimotohno K, VanLeeuwen D and Cohen M.
  TITLE     Human proviral mRNAs down regulated in choriocarcinoma encode a zinc
            finger protein related to Kruppel
  JOURNAL   Mol Cell Biol 10 (8), 4401-4405 (1990)
   PUBMED   2115127
REFERENCE   8  (bases 1 to 3206)
  AUTHORS   Kato N, Larsson E and Cohen M.
  TITLE     Absence of expression of a human endogenous retrovirus is correlated
            with choriocarcinoma
  JOURNAL   Int J Cancer 41 (3), 380-385 (1988)
   PUBMED   3346101
REFERENCE   9  (bases 1 to 3206)
  AUTHORS   Cohen M, Kato N and Larsson E.
  TITLE     ERV3 human endogenous provirus mRNAs are expressed in normal and
            malignant tissues and cells, but not in choriocarcinoma tumor cells
  JOURNAL   J Cell Biochem 36 (2), 121-128 (1988)
   PUBMED   3356751
REFERENCE   10  (bases 1 to 3206)
  AUTHORS   Kato,N., Pfeifer-Ohlsson,S., Kato,M., Larsson,E., Rydnert,J.,
            Ohlsson,R. and Cohen,M.
  TITLE     Tissue-specific expression of human provirus ERV3 mRNA in human
            placenta: two of the three ERV3 mRNAs contain human cellular
            sequences
  JOURNAL   J Virol 61 (7), 2182-2191 (1987)
   PUBMED   2884330
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMN03568911
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            endogenous retrovirus  :: PMID: 15081124
            MANE Ensembl match     :: ENST00000394323.3/ ENSP00000391594.1
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA198800.1, AC073210.8 and
            AK074464.1.
            On Nov 23, 2018 this sequence version replaced NM_001007253.3.
            Summary: This gene contains sequence derived from endogenous
            retrovirus, and is therefore similar to multiple other loci in the
            genome. Transcripts at this locus encode a conserved protein with a
            predicted signal peptide and similarity to the Env polyprotein.
            This protein is overexpressed in colorectal and other cancers.
            [provided by RefSeq, Jan 2017].
            Transcript Variant: This variant (1) encodes the protein related to
            endogenous retrovirus.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3206
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.21"
     gene            1..3206
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="endogenous retrovirus group 3 member 1, envelope"
                     /db_xref="GeneID:2086"
                     /db_xref="HGNC:HGNC:3454"
                     /db_xref="MIM:131170"
     misc_feature    500..502
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="upstream in-frame stop codon"
     CDS             536..2350
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="HERV-R_7q21.2 provirus ancestral Env polyprotein;
                     ERV-R envelope protein; HERV-R envelope protein; ERV3-1
                     envelope protein; endogenous retrovirus group 3 member 1
                     Env polyprotein; endogenous retroviral sequence 3;
                     endogenous retrovirus group 3, member 1"
                     /codon_start=1
                     /product="endogenous retrovirus group 3 member 1 Env
                     polyprotein precursor"
                     /protein_id="NP_001007254.2"
                     /db_xref="CCDS:CCDS47595.1"
                     /db_xref="GeneID:2086"
                     /db_xref="HGNC:HGNC:3454"
                     /db_xref="MIM:131170"
                     /translation="MLGMNMLLITLFLLLPLSMLKGEPWEGCLHCTHTTWSGNIMTKTL
                     LYHTYYECAGTCLGTCTHNQTTYSVCDPGRGQPYVCYDPKSSPGTWFEIHVGSKEGDLL
                     NQTKVFPSGKDVVSLYFDVCQIVSMGSLFPVIFSSMEYYSSCHKNRYAHPACSTDSPVT
                     TCWDCTTWSTNQQSLGPIMLTKIPLEPDCKTSTCNSVNLTILEPDQPIWTTGLKAPLGA
                     RVSGEEIGPGAYVYLYIIKKTRTRSTQQFRVFESFYEHVNQKLPEPPPLASNLFAQLAE
                     NIASSLHVASCYVCGGMNMGDQWPWEARELMPQDNFTLTASSLEPAPSSQSIWFLKTSI
                     IGKFCIARWGKAFTDPVGELTCLGQQYYNETLGKTLWRGKSNNSESPHPSPFSRFPSLN
                     HSWYQLEAPNTWQAPSGLYWICGPQAYRQLPAKWSGACVLGTIRPSFFLMPLKQGEALG
                     YPIYDETKRKSKRGITIGDWKDNEWPPERIIQYYGPATWAEDGMWGYRTPVYMLNRIIR
                     LQAVLEIITNETAGALNLLAQQATKMRNVIYQNRLALDYLLAQEEGVCGKFNLTNCCLE
                     LDDEGKVIKEITAKIQKLAHIPVQTWKG"
     sig_peptide     536..601
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     602..2347
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /product="Endogenous retrovirus group 3 member 1 Env
                     polyprotein. /id=PRO_0000008477"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14264.2)"
     mat_peptide     602..1948
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /product="Surface protein. /evidence=ECO:0000250.
                     /id=PRO_0000008478"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14264.2)"
     misc_feature    725..727
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14264.2); glycosylation site"
     misc_feature    848..850
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14264.2); glycosylation site"
     misc_feature    1028..1039
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14264.2);
                     Region: CXXC. /evidence=ECO:0000250"
     misc_feature    1136..1138
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14264.2); glycosylation site"
     misc_feature    1481..1483
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14264.2); glycosylation site"
     misc_feature    1640..1642
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14264.2); glycosylation site"
     misc_feature    1679..1681
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14264.2); glycosylation site"
     misc_feature    1730..1732
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14264.2); glycosylation site"
     misc_feature    1946..1951
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="Cleavage. /evidence=ECO:0000250; propagated from
                     UniProtKB/Swiss-Prot (Q14264.2); cleavage site"
     mat_peptide     1949..2347
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /product="Transmembrane protein. /evidence=ECO:0000250.
                     /id=PRO_0000008479"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14264.2)"
     misc_feature    2114..2116
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14264.2); glycosylation site"
     misc_feature    2177..2227
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14264.2);
                     Region: CKS-17. /evidence=ECO:0000250"
     misc_feature    2228..2257
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14264.2);
                     Region: CX6CC. /evidence=ECO:0000250"
     misc_feature    2240..2242
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q14264.2); glycosylation site"
     regulatory      3183..3188
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="hexamer: AATAAA"
     polyA_site      3206
                     /gene="ERV3-1"
                     /gene_synonym="envR; ERV-R; ERV3; ERVR; HERV-R; HERVR"
                     /note="major polyA site"
ORIGIN
        1 gtctctggcg gcagccggag cttctggtgt agtcttcact gctctgtgtc ttctgctcct
       61 agaggcccag cttctgtggc ctcgttacct gcaggtattg ggagatccac agctaagacg
      121 ccaggaccca ctggaagcct agaaatgttg caggaattgt gccttggatc catccatcca
      181 gtcagctgaa accagcagcc caggacaagt ggaccagcca acaggaccta gaccatgcaa
      241 cccagctgat cctacgatgg aaccaaggtg ccagtgagat gacaacagcc ctgctctggt
      301 cactccggaa gctgaccagt ccacacacgg ctgaagcttg aggagacaac agccctgctc
      361 tagtcacccc agaagctgac tagtctatgc acggccgaag cttgagtcat catcagggaa
      421 gtaaatgtgg ttagaaatct gaagtccagt aattttcctt gtcatattaa ttactttgct
      481 attaagctgt cactttgctt agccttctcc ccccaggaaa aagccttttc tgtccatgct
      541 gggtatgaac atgctactca tcactttgtt cttgctactc cccttatcca tgttaaaagg
      601 agaaccctgg gagggatgcc tccactgcac ccacactacg tggtcgggga acatcatgac
      661 taaaaccctg ttgtatcaca cttattatga gtgtgctggg acctgcctag gaacttgtac
      721 tcacaaccag acaacctact cagtctgtga cccaggaagg ggccagcctt atgtgtgtta
      781 tgaccctaag tcttcacctg ggacctggtt tgaaattcat gtcgggtcaa aggaagggga
      841 tcttctaaac caaaccaagg tatttccctc tggcaaggat gtcgtatcct tatactttga
      901 tgtttgccag atagtatcca tgggctcact ctttcccgta atcttcagtt ccatggagta
      961 ctatagtagc tgccataaaa ataggtatgc acaccctgct tgttccaccg attccccagt
     1021 aacaacttgc tgggactgca caacgtggtc cactaaccaa caatcactag ggccaattat
     1081 gcttaccaaa ataccattag aaccagattg taaaacaagc acttgcaatt ctgtaaatct
     1141 taccatctta gagccagatc agcccatatg gacaacaggt ttaaaagcac cgctaggggc
     1201 acgagtcagc ggtgaagaaa ttggcccagg agcctatgtc tatctatata tcataaagaa
     1261 aactcggacc cgctcaaccc aacagttccg agtttttgag tcattctatg agcatgttaa
     1321 ccagaaattg cctgagcccc ctcccttggc cagtaattta ttcgcccaac tggctgaaaa
     1381 catagccagc agcctgcacg ttgcttcatg ttatgtctgt gggggaatga acatgggaga
     1441 ccaatggcca tgggaagcaa gggaactaat gccccaagat aatttcacac taaccgcctc
     1501 ttccctcgaa cctgcaccat caagtcagag catctggttc ttaaaaacct ccattattgg
     1561 aaaattctgt attgctcgct ggggaaaggc ctttacagac ccagtaggag agttaacttg
     1621 cctaggacaa caatattaca acgagacact aggaaagact ttatggaggg gcaaaagcaa
     1681 taattctgaa tcaccacacc caagcccatt ctctcgtttc ccatctttaa accattcttg
     1741 gtaccaactt gaagctccaa atacctggca ggcaccctct ggcctctact ggatctgtgg
     1801 gccacaagca tatcgacaac tgccagctaa atggtcaggg gcctgtgtac tggggacaat
     1861 taggccgtcc ttcttcctaa tgcccctaaa acagggagaa gccttaggat accccatcta
     1921 tgatgaaact aaaaggaaaa gcaaaagagg cataactata ggagattgga aggacaatga
     1981 atggcctcct gaaagaataa ttcaatatta tggcccagcc acctgggcag aagatggaat
     2041 gtggggatac cgcaccccag tttacatgct taaccgcatt ataagattgc aggcagtact
     2101 agaaatcatt accaatgaaa ctgcaggggc cttgaatctg cttgcccagc aagccacaaa
     2161 aatgagaaat gtcatttatc aaaatagact ggccttagac tacctcctag cccaggaaga
     2221 gggagtatgc ggaaagttca accttactaa ctgctgcctg gaacttgatg acgaaggaaa
     2281 ggtcatcaaa gaaataactg ctaaaatcca aaagttagct cacatcccag ttcagacttg
     2341 gaaaggatag tctccagatt cccttttcag aggttggttc tcatcccttg gaggatttaa
     2401 aaccttagta caaatagtcc tagccatatt gggagtttgc cttatactcc cttgtctctt
     2461 acccctcatt gtcaaaaata tccaaacagc catagaggct cttgtggaca gacggactac
     2521 cacacgacta atggccctaa ctaagtatta acccctgcca agaaaagagc tacttcctct
     2581 tgaagtaaat gaagatagtg atgctttctc ttaaacttta cttataaaaa gcatcaaagg
     2641 ggggaatgaa gcaggaaata taaaaggaaa aacaagtaaa gggaaaacaa gtcctttcct
     2701 gaccagtctg actcactcca aagtcctgct ggagctatga taattatctg caaggccagg
     2761 caggggctcc gaaggagtgg gctccaggag cagggatgag aaaaacaagt tctccttatc
     2821 agtttccctg tttgaaattc tctccccata acattattct ttgttctgct ctcacaacta
     2881 tttttgtaac tatttctgca agtctgtaaa gattttgtaa gttcttgttt ttctttctgt
     2941 agcatggcaa ggtcacaaga catgtttaag taaggtaggc tcatgttgca aatcctgttg
     3001 taaaacctgt cacggtatga ttaactgcct ttgttctgct tctgtaagac tgctttctca
     3061 cctcgcaggt tttgcgccaa aaacccgact tgcccctgcc tgatgcatgt ataaaagtca
     3121 agccctgtct ttgttcaggg ctcagccttt ggatgttaat ccgctgggcc agtggccacc
     3181 taaataaaac cttcctgttg caccca
//
LOCUS       NM_001007271             567 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens dual specificity phosphatase 13A (DUSP13A), mRNA.
ACCESSION   NM_001007271
VERSION     NM_001007271.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 567)
  AUTHORS   Wei CH, Min HG, Kim M, Kim GH, Chun HJ and Ryu SE.
  TITLE     Two intermediate states of the conformational switch in dual
            specificity phosphatase 13a
  JOURNAL   Pharmacol Res 128, 211-219 (2018)
   PUBMED   29106959
REFERENCE   2  (bases 1 to 567)
  AUTHORS   Park JE, Park BC, Kim HA, Song M, Park SG, Lee DH, Kim HJ, Choi HK,
            Kim JT and Cho S.
  TITLE     Positive regulation of apoptosis signal-regulating kinase 1 by
            dual-specificity phosphatase 13A
  JOURNAL   Cell Mol Life Sci 67 (15), 2619-2629 (2010)
   PUBMED   20358250
REFERENCE   3  (bases 1 to 567)
  AUTHORS   Chen HH, Luche R, Wei B and Tonks NK.
  TITLE     Characterization of two distinct dual specificity phosphatases
            encoded in alternative open reading frames of a single gene located
            on human chromosome 10q22.2
  JOURNAL   J Biol Chem 279 (40), 41404-41413 (2004)
   PUBMED   15252030
COMMENT     ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL392111.12.
            On Mar 7, 2023 this sequence version replaced NM_001007271.2.
            Summary: Members of the protein-tyrosine phosphatase superfamily
            cooperate with protein kinases to regulate cell proliferation and
            differentiation. This gene encodes a dual specificity phosphatase
            that acts on both phosphotyrosine and phosphoserine/threonine
            residues. The encoded protein is expressed in skeletal muscle.
            [provided by RefSeq, Mar 2023].
            CCDS Note: This CCDS representation is supported by the mRNAs
            AY674051.1 and AY040091.1. The transcript is a candidate for
            nonsense-mediated mRNA decay (NMD); however, the protein is
            represented based on demonstration of the endogenous protein in
            mouse tissues in PMID:15252030, and because there are no non-NMD
            transcripts that can encode this protein in either human and mouse.
FEATURES             Location/Qualifiers
     source          1..567
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.2"
     gene            1..567
                     /gene="DUSP13A"
                     /gene_synonym="BEDP; DUSP13; MDSP"
                     /note="dual specificity phosphatase 13A"
                     /db_xref="GeneID:128854680"
                     /db_xref="HGNC:HGNC:56772"
     CDS             1..567
                     /gene="DUSP13A"
                     /gene_synonym="BEDP; DUSP13; MDSP"
                     /EC_number="3.1.3.16"
                     /EC_number="3.1.3.48"
                     /note="muscle-restricted DSP; branching-enzyme interacting
                     DSP; dual specificity protein phosphatase 13;
                     branching-enzyme interacting dual specificity phosphatase;
                     muscle-restricted dual specificity phosphatase"
                     /codon_start=1
                     /product="dual specificity protein phosphatase 13A"
                     /protein_id="NP_001007272.1"
                     /db_xref="CCDS:CCDS53542.1"
                     /db_xref="GeneID:128854680"
                     /db_xref="HGNC:HGNC:56772"
                     /translation="MAETSLPELGGEDKATPCPSILELEELLRAGKSSCSRVDEVWPNL
                     FIGDAATANNRFELWKLGITHVLNAAHKGLYCQGGPDFYGSSVSYLGVPAHDLPDFDIS
                     AYFSSAADFIHRALNTPGAKVLVHCVVGVSRSATLVLAYLMLHQRLSLRQAVITVRQHR
                     WVFPNRGFLHQLCRLDQQLRGAGQS"
ORIGIN
        1 atggctgaga cctctctccc agagctgggg ggagaggaca aagccacgcc ttgccccagc
       61 atcctggagc tggaggagct cctgcgggca gggaagtctt cttgcagccg tgtggacgaa
      121 gtttggccca accttttcat aggagatgcg gccacggcaa acaaccgctt tgagctgtgg
      181 aagctgggca tcacccacgt gctgaacgcc gcccacaagg gcctctactg tcagggcggc
      241 cctgacttct acggcagcag tgtgagctac ctgggggtgc cagcccacga cctccctgat
      301 tttgacatca gtgcctactt ctcctctgcg gctgacttca tccaccgtgc cctcaacacg
      361 cctggggcca aggtcctggt gcactgtgtg gtgggcgtga gccgctctgc cacgctggtc
      421 ctggcctacc tcatgctgca ccagcggctg tccctgcgcc aggcggtgat caccgtgagg
      481 cagcaccgat gggtcttccc caaccgaggc ttcctgcacc agctctgcag gctggaccag
      541 caactgcggg gtgccggcca gagctga
//
LOCUS       NM_001007467            4031 bp    mRNA    linear   PRI 24-MAR-2023
DEFINITION  Homo sapiens SFI1 centrin binding protein (SFI1), transcript variant
            1, mRNA.
ACCESSION   NM_001007467
VERSION     NM_001007467.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4031)
  AUTHORS   Laporte MH, Bouhlel IB, Bertiaux E, Morrison CG, Giroud A, Borgers
            S, Azimzadeh J, Bornens M, Guichard P, Paoletti A and Hamel V.
  TITLE     Human SFI1 and Centrin form a complex critical for centriole
            architecture and ciliogenesis
  JOURNAL   EMBO J 41 (21), e112107 (2022)
   PUBMED   36125182
  REMARK    GeneRIF: Human SFI1 and Centrin form a complex critical for
            centriole architecture and ciliogenesis.
REFERENCE   2  (bases 1 to 4031)
  AUTHORS   Karlsson L, Barbaro M, Ewing E, Gomez-Cabrero D and Lajic S.
  TITLE     Genome-wide investigation of DNA methylation in congenital adrenal
            hyperplasia
  JOURNAL   J Steroid Biochem Mol Biol 201, 105699 (2020)
   PUBMED   32428554
  REMARK    GeneRIF: Genome-wide investigation of DNA methylation in congenital
            adrenal hyperplasia.
REFERENCE   3  (bases 1 to 4031)
  AUTHORS   Kodani A, Moyer T, Chen A, Holland A, Walsh CA and Reiter JF.
  TITLE     SFI1 promotes centriole duplication by recruiting USP9X to stabilize
            the microcephaly protein STIL
  JOURNAL   J Cell Biol 218 (7), 2185-2197 (2019)
   PUBMED   31197030
  REMARK    GeneRIF: these results demonstrate that SFI1 is a centrosomal
            protein that localizes USP9X to the centrosome to stabilize STIL and
            promote centriole duplication. We propose that the USP9X protection
            of STIL to facilitate centriole duplication underlies roles of both
            proteins in human neurodevelopment.
REFERENCE   4  (bases 1 to 4031)
  AUTHORS   Grecu D, Irudayaraj VP, Martinez-Sanz J, Mallet JM and Assairi L.
  TITLE     A chirality change in XPC- and Sfi1-derived peptides affects their
            affinity for centrin
  JOURNAL   Peptides 78, 77-86 (2016)
   PUBMED   26923803
  REMARK    GeneRIF: A chirality change in XPC- and Sfi1-derived peptides
            affects their affinity for centrin.
REFERENCE   5  (bases 1 to 4031)
  AUTHORS   Fransen E, Bonneux S, Corneveaux JJ, Schrauwen I, Di Berardino F,
            White CH, Ohmen JD, Van de Heyning P, Ambrosetti U, Huentelman MJ,
            Van Camp G and Friedman RA.
  TITLE     Genome-wide association analysis demonstrates the highly polygenic
            character of age-related hearing impairment
  JOURNAL   Eur J Hum Genet 23 (1), 110-115 (2015)
   PUBMED   24939585
REFERENCE   6  (bases 1 to 4031)
  AUTHORS   Kilmartin JV.
  TITLE     Sfi1p has conserved centrin-binding sites and an essential function
            in budding yeast spindle pole body duplication
  JOURNAL   J Cell Biol 162 (7), 1211-1221 (2003)
   PUBMED   14504268
REFERENCE   7  (bases 1 to 4031)
  AUTHORS   Casenghi M, Meraldi P, Weinhart U, Duncan PI, Korner R and Nigg EA.
  TITLE     Polo-like kinase 1 regulates Nlp, a centrosome protein involved in
            microtubule nucleation
  JOURNAL   Dev Cell 5 (1), 113-125 (2003)
   PUBMED   12852856
REFERENCE   8  (bases 1 to 4031)
  AUTHORS   Takahashi M, Yamagiwa A, Nishimura T, Mukai H and Ono Y.
  TITLE     Centrosomal proteins CG-NAP and kendrin provide microtubule
            nucleation sites by anchoring gamma-tubulin ring complex
  JOURNAL   Mol Biol Cell 13 (9), 3235-3245 (2002)
   PUBMED   12221128
REFERENCE   9  (bases 1 to 4031)
  AUTHORS   Mayor T, Stierhof YD, Tanaka K, Fry AM and Nigg EA.
  TITLE     The centrosomal protein C-Nap1 is required for cell cycle-regulated
            centrosome cohesion
  JOURNAL   J Cell Biol 151 (4), 837-846 (2000)
   PUBMED   11076968
REFERENCE   10  (bases 1 to 4031)
  AUTHORS   Golsteyn RM, Mundt KE, Fry AM and Nigg EA.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK292408.1, SRR7346977.1509962.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000400288.7/ ENSP00000383145.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC369842.1, AK292408.1, AL708501.1, BC021576.1, AI141022.1 and
            AL096768.7.
            On May 17, 2019 this sequence version replaced NM_001007467.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4031
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..4031
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="SFI1 centrin binding protein"
                     /db_xref="GeneID:9814"
                     /db_xref="HGNC:HGNC:29064"
                     /db_xref="MIM:612765"
     misc_feature    127..129
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="upstream in-frame stop codon"
     CDS             133..3861
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="isoform a is encoded by transcript variant 1;
                     homolog of yeast Sfi1; protein SFI1 homolog; protein
                     phosphatase 1, regulatory subunit 139; Sfi1 homolog,
                     spindle assembly associated"
                     /codon_start=1
                     /product="protein SFI1 homolog isoform a"
                     /protein_id="NP_001007468.1"
                     /db_xref="CCDS:CCDS43004.1"
                     /db_xref="GeneID:9814"
                     /db_xref="HGNC:HGNC:29064"
                     /db_xref="MIM:612765"
                     /translation="MKNLLTEKCISSHNFHQKVIKQRMEKKVDSRYFKDGAVKKPYSAK
                     TLSNKKSSASFGIRRELPSTSHLVQYRGTHTCTRQGRLRELRIRCVARKFLYLWIRMTF
                     GRVFPSKARFYYEQRLLRKVFEEWKEEWWVFQHEWKLCVRADCHYRYYLYNLMFQTWKT
                     YVRQQQEMRNKYIRAEVHDAKQKMRQAWKSWLIYVVVRRTKLQMQTTALEFRQRIILRV
                     WWSTWRQRLGQVRVSRALHASALKHRALSLQVQAWSQWREQLLYVQKEKQKVVSAVKHH
                     QHWQKRRFLKAWLEYLQVRRVKRQQNEMAERFHHVTVLQIYFCDWQQAWERRESLYAHH
                     AQVEKLARKMALRRAFTHWKHYMLLCAEEAAQFEMAEEHHRHSQLYFCFRALKDNVTHA
                     HLQQIRRNLAHQQHGVTLLHRFWNLWRSQIEQKKERELLPLLHAAWDHYRIALLCKCIE
                     LWLQYTQKRRYKQLLQARADGHFQQRALPAAFHTWNRLWRWRHQENVLSARATRFHRET
                     LEKQVFSLWRQKMFQHRENRLAERMAILHAERQLLYRSWFMWHQQAAARHQEQEWQTVA
                     CAHHRHGRLKKAFCLWRESAQGLRTERTGRVRAAEFHMAQLLRWAWSQWRECLALRGAE
                     RQKLMRADLHHQHSVLHRALQAWVTYQGRVRSILREVAARESQHNRQLLRGALRRWKEN
                     TMARVDEAKKTFQASTHYRRTICSKVLVQWREAVSVQMYYRQQEDCAIWEAQKVLDRGC
                     LRTWFQRWWDCSRRSAQQRLQLERAVQHHHRQLLLEGLARWKTHHLQCVRKRLLHRQST
                     QLLAQRLSRTCFRQWRQQLAARRQEQRATVRALWFWAFSLQAKVWATWLAFVLERRRKK
                     ARLQWALQAYQGQLLQEGATRLLRFAASMKASRQQLQAQQQVQAAHSLHRAVRRCATLW
                     KQKVLGRGGKPQPLAAIAPSRKVTFEGPLLNRIAAGAGDGTLETKRPQASRPLGALGRL
                     AAEEPHALELNTAHSARKQPRRPHFLLEPAQSQRPQKPQEHGLGMAQPAAPSLTRPFLA
                     EAPTALVPHSPLPGALSSAPGPKQPPTASTGPELLLLPLSSFMPCGAAAPARVSAQRAT
                     PRDKPPVPSSLASVPDPHLLLPGDFSATRAGPGLSTAGSLDLEAELEEIQQQLLHYQTT
                     KQNLWSCRRQASSLRRWLELNREEPGPEDQEVEQQVQKELEQVEMQIQLLAEELQAQRQ
                     PIGACVARIQALRQALC"
     misc_feature    463..522
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="propagated from UniProtKB/Swiss-Prot (A8K8P3.2);
                     Region: Interaction with CETN2"
     misc_feature    544..642
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="propagated from UniProtKB/Swiss-Prot (A8K8P3.2);
                     Region: HAT 1"
     misc_feature    646..735
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="propagated from UniProtKB/Swiss-Prot (A8K8P3.2);
                     Region: HAT 2"
     misc_feature    940..1038
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="propagated from UniProtKB/Swiss-Prot (A8K8P3.2);
                     Region: HAT 3"
     misc_feature    1132..1236
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="propagated from UniProtKB/Swiss-Prot (A8K8P3.2);
                     Region: HAT 4"
     misc_feature    1327..1425
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="propagated from UniProtKB/Swiss-Prot (A8K8P3.2);
                     Region: HAT 5"
     misc_feature    1555..1614
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="propagated from UniProtKB/Swiss-Prot (A8K8P3.2);
                     Region: Interaction with CETN2"
     misc_feature    2053..2112
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="propagated from UniProtKB/Swiss-Prot (A8K8P3.2);
                     Region: Interaction with CETN2"
     misc_feature    3181..3246
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="propagated from UniProtKB/Swiss-Prot (A8K8P3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3289..3375
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="propagated from UniProtKB/Swiss-Prot (A8K8P3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3433..3498
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="propagated from UniProtKB/Swiss-Prot (A8K8P3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3574..3672
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="propagated from UniProtKB/Swiss-Prot (A8K8P3.2);
                     Region: HAT 6"
     regulatory      3972..3977
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="hexamer: ATTAAA"
     regulatory      3976..3981
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="hexamer: AATGAA"
     polyA_site      3991
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
                     /note="major polyA site"
     polyA_site      3994
                     /gene="SFI1"
                     /gene_synonym="hSfi1p; PISD; PPP1R139"
ORIGIN
        1 gaggcgggcg tggaccgcgc gggagttaag aagcaggtcc cggatcgccg tataccgccg
       61 ggttttctcc caacgtcagg cccgatggct cggcttcccc agttagaagg ggaagataaa
      121 agactttgat tcatgaagaa tctgctcact gagaagtgta tatcaagcca caatttccat
      181 caaaaagtga ttaagcagag aatggagaag aaggttgatt ccaggtattt taaggatggt
      241 gcagttaaga aaccttattc tgcaaagaca ctgtccaaca agaagtcttc tgcatccttt
      301 gggatccgga gggagttacc tagtaccagt catctagtgc agtatcgtgg cacacatact
      361 tgtacccgac agggccggtt aagagaactg cgcatcagat gcgtggccag aaagttctta
      421 tatttatgga ttcgaatgac ttttggaaga gtatttccct ctaaagccag attttactat
      481 gagcagcgat tactacggaa ggtcttcgaa gaatggaaag aggagtggtg ggttttccag
      541 cacgagtgga aactctgtgt tcgagctgac tgtcactaca ggtattacct gtacaacctg
      601 atgttccaga cgtggaagac ctatgtgcgt cagcagcagg agatgaggaa caagtacatt
      661 agagccgagg ttcatgatgc aaagcaaaag atgcgacagg cctggaagtc ctggttgatc
      721 tacgtggttg ttcgtaggac caaacttcag atgcagacta cagctctgga gtttaggcaa
      781 cggattatct tacgggtgtg gtggagcacg tggaggcagc gactaggaca ggtccgtgtg
      841 agccgtgccc tccatgcctc tgctttgaag cacagggccc tgagcctcca ggtgcaggct
      901 tggtcacagt ggcgggaaca gctcctgtat gtccagaagg agaaacaaaa ggttgtctct
      961 gcagtgaaac atcatcagca ctggcaaaaa cggagatttc taaaggcctg gcttgaatac
     1021 ctgcaagtcc gcagagtgaa gagacagcag aatgagatgg ctgagcgatt ccatcatgtc
     1081 actgtgctcc agatatactt ctgtgactgg cagcaggcct gggagcggag ggagagcttg
     1141 tacgctcacc atgcccaggt ggagaaactg gccaggaaga tggccctgcg gcgcgccttt
     1201 actcactgga aacactacat gctgctgtgt gcagaagaag ctgcccagtt tgagatggca
     1261 gaagagcacc acaggcacag ccagctgtat ttttgcttta gagccctaaa agacaatgtg
     1321 acccacgctc atctccagca aataagaagg aatcttgctc accagcagca tggtgtcacg
     1381 ctgctgcaca ggttctggaa cctctggcgg tctcagattg agcagaaaaa ggaaagagag
     1441 ctgctcccct tactgcatgc tgcctgggac cactacagaa tagcactgct gtgcaaatgt
     1501 atcgaattgt ggctacagta tactcagaag aggcggtaca agcagctgct acaggccaga
     1561 gcggatggtc atttccagca gagagccctg cctgctgcct tccacacatg gaacagactc
     1621 tggcgatggc gccaccagga aaatgtcctc agtgcaagag caacacgttt ccacagggag
     1681 acattagaga agcaagtatt ttctctctgg aggcagaaga tgtttcagca tcgagaaaac
     1741 cgcctggcag agagaatggc catccttcac gcagagcgac agcttctgta taggtcttgg
     1801 ttcatgtggc accagcaggc agcagcacgt caccaggagc aggagtggca aacagtggcc
     1861 tgtgcccacc accgccacgg gcggctcaag aaagctttct gcctctggag ggaaagtgcc
     1921 caagggctca gaacagagag gacgggcagg gtgcgggcag cagaattcca catggcccag
     1981 ctcctgcgtt gggcctggag ccagtggagg gagtgcctgg ccctgcgggg agcggagcgg
     2041 cagaagctga tgcgagcaga cctgcaccac cagcacagcg tgctgcacag ggcgctgcag
     2101 gcatgggtga cttaccaggg cagggtgcga agcatcctcc gggaggtggc agccagggag
     2161 agccagcaca acaggcagct gctgcgcggg gcattacgtc gctggaaaga gaacaccatg
     2221 gcccgagtgg atgaagccaa aaaaaccttt caagcaagta ctcattacag aaggaccata
     2281 tgttccaagg tcctggtcca gtggcgggaa gctgtgtcag tgcagatgta ttaccgacag
     2341 caggaggact gtgccatctg ggaggcccag aaggtgctgg acaggggctg tctgcggacc
     2401 tggtttcagc gctggtggga ctgcagccgg aggtcagccc agcagagact gcagctggag
     2461 agggcagtgc aacaccacca ccggcagctg ctgctggagg ggctggcccg gtggaagacg
     2521 caccatctgc agtgtgtcag gaagaggctc ctgcacaggc agagcaccca actgctggca
     2581 cagagactca gccggacctg cttccgccag tggagacaac agctggcagc caggaggcag
     2641 gagcagcggg cgacagtgcg ggccctgtgg ttctgggcct tctcgctgca ggcaaaggtg
     2701 tgggccacgt ggctggcctt tgtactggaa aggaggagaa agaaggcgcg gctgcagtgg
     2761 gcgctccagg cctaccaggg gcagctcctc caggagggtg ccacgcggct cctgcgcttt
     2821 gcagccagca tgaaggcctc ccggcagcag ctgcaggccc agcagcaggt ccaggcggct
     2881 cacagtctcc atcgtgccgt ccgccgctgt gccacgctct ggaaacagaa agtgctgggc
     2941 cggggcggga agcctcagcc cctggcagcc atcgcaccca gcaggaaagt gacgtttgag
     3001 ggtccccttc tcaaccgcat tgctgctggg gctggggatg gcacccttga gaccaagagg
     3061 ccacaggctt ctcggcctct gggagctctg ggccgcctgg ctgctgagga gccccacgcc
     3121 ctggagctca acactgccca ctcagcgagg aagcagccgc gacgcccaca cttcctgttg
     3181 gagcctgcgc agagccagag gcctcagaag ccacaggaac atggcctagg catggctcag
     3241 ccagcagccc cctccctgac gcggcccttc ctggcagagg ccccgacagc actggtccca
     3301 cacagccccc tgcctggggc cctgtcaagc gcccctggcc cgaagcagcc cccgacggca
     3361 agcacaggcc cggagctgct gctgctgcct ctttcctcct tcatgccctg cggggcggct
     3421 gcaccagcca gggtgtcagc acagcgggct actcctaggg ataagccccc ggtcccctca
     3481 tccctggcca gtgtccctga cccccatcta ctccttcctg gggacttctc agccaccagg
     3541 gctgggcctg gactttcaac tgcaggcagc ctggaccttg aggctgaact tgaggagatc
     3601 cagcagcaac tactgcacta ccagaccacc aagcagaacc tctggtcctg tcggcggcaa
     3661 gcgagcagcc tgcgcaggtg gctggagctg aacagagagg agccggggcc tgaggaccag
     3721 gaagtagagc agcaggtgca gaaagagctg gaacaggtgg aaatgcagat ccagctgctg
     3781 gcagaggagc tccaggctca gcgccagccc attggcgcct gcgttgcccg catccaggcc
     3841 ctgcggcagg ccctgtgcta gcgtgttcgc accaggaacg caggtgctgg gctgtcgggg
     3901 aggcctcagg ccacctccag gaacagaaca cagttttaag tttgattttt tttatttcaa
     3961 aatgctttgc aattaaatga attactgttc agaagtctcc cacttttcat acaaaaatac
     4021 tgtgctactg a
//
LOCUS       NM_001007523            1707 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens coagulation factor VIII associated 2 (F8A2), mRNA.
ACCESSION   NM_001007523
VERSION     NM_001007523.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1707)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1707)
  AUTHORS   Guo Q, Bin Huang, Cheng J, Seefelder M, Engler T, Pfeifer G, Oeckl
            P, Otto M, Moser F, Maurer M, Pautsch A, Baumeister W,
            Fernandez-Busnadiego R and Kochanek S.
  TITLE     The cryo-electron microscopy structure of huntingtin
  JOURNAL   Nature 555 (7694), 117-120 (2018)
   PUBMED   29466333
REFERENCE   3  (bases 1 to 1707)
  AUTHORS   Huang ZN and Her LS.
  TITLE     The Ubiquitin Receptor ADRM1 Modulates HAP40-Induced Proteasome
            Activity
  JOURNAL   Mol Neurobiol 54 (9), 7382-7400 (2017)
   PUBMED   27815841
REFERENCE   4  (bases 1 to 1707)
  AUTHORS   Monaghan M, Wakabayashi H, Griffiths A, Wintermute J and Fay PJ.
  TITLE     Enhanced factor VIIIa stability of A2 domain interface variants
            results from an increased apparent affinity for the A2 subunit.
            Results from an increased apparent affinity for the A2 subunit
  JOURNAL   Thromb Haemost 112 (3), 495-502 (2014)
   PUBMED   24899227
  REMARK    GeneRIF: Thus these hydrophobic mutations at the A2 subunit
            interfaces result in high binding affinities for the A2 subunit and
            correlate well with previously observed reductions in rates in
            FVIIIa decay.
REFERENCE   5  (bases 1 to 1707)
  AUTHORS   Pal A, Severin F, Lommer B, Shevchenko A and Zerial M.
  TITLE     Huntingtin-HAP40 complex is a novel Rab5 effector that regulates
            early endosome motility and is up-regulated in Huntington's disease
  JOURNAL   J Cell Biol 172 (4), 605-618 (2006)
   PUBMED   16476778
REFERENCE   6  (bases 1 to 1707)
  AUTHORS   Bagnall RD, Ayres KL, Green PM and Giannelli F.
  TITLE     Gene conversion and evolution of Xq28 duplicons involved in
            recurring inversions causing severe hemophilia A
  JOURNAL   Genome Res 15 (2), 214-223 (2005)
   PUBMED   15687285
REFERENCE   7  (bases 1 to 1707)
  AUTHORS   Naylor JA, Buck D, Green P, Williamson H, Bentley D and Giannelli F.
  TITLE     Investigation of the factor VIII intron 22 repeated region (int22h)
            and the associated inversion junctions
  JOURNAL   Hum Mol Genet 4 (7), 1217-1224 (1995)
   PUBMED   8528212
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: ERR3218377.104509.1, DRR138513.364605.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000369505.5/ ENSP00000358518.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC234781.7.
            On Sep 29, 2020 this sequence version replaced NM_001007523.1.
            Summary: This gene is part of a region that is repeated three times
            on chromosome X, once in intron 22 of the F8 gene and twice closer
            to the Xq telomere. This record represents the middle copy.
            Although its function is unknown, the observation that this gene is
            conserved in the mouse implies it has some function. Unlike factor
            VIII, this gene is transcribed abundantly in a wide variety of cell
            types. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1707
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1707
                     /gene="F8A2"
                     /gene_synonym="HAP40"
                     /note="coagulation factor VIII associated 2"
                     /db_xref="GeneID:474383"
                     /db_xref="HGNC:HGNC:31849"
     CDS             21..1136
                     /gene="F8A2"
                     /gene_synonym="HAP40"
                     /note="coagulation factor VIII-associated (intronic
                     transcript) 2; factor VIII intron 22 protein; cpG island
                     protein"
                     /codon_start=1
                     /product="40-kDa huntingtin-associated protein"
                     /protein_id="NP_001007524.1"
                     /db_xref="CCDS:CCDS35462.1"
                     /db_xref="GeneID:474383"
                     /db_xref="HGNC:HGNC:31849"
                     /translation="MAAAAAGLGGGGAGPGPEAGDFLARYRLVSNKLKKRFLRKPNVAE
                     AGEQFGQLGRELRAQECLPYAAWCQLAVARCQQALFHGPGEALALTEAARLFLRQERDA
                     RQRLVCPAAYGEPLQAAASALGAAVRLHLELGQPAAAAALCLELAAALRDLGQPAAAAG
                     HFQRAAQLQLPQLPLAALQALGEAASCQLLARDYTGALAVFTRMQRLAREHGSHPVQSL
                     PPPPPPAPQPGPGATPALPAALLPPNSGSAAPSPAALGAFSDVLVRCEVSRVLLLLLLQ
                     PPPAKLLPEHAQTLEKYSWEAFDSHGQESSGQLPEELFLLLQSLVMATHEKDTEAIKSL
                     QVEMWPLLTAEQNHLLHLVLQETISPSGQGV"
     misc_feature    24..26
                     /gene="F8A2"
                     /gene_synonym="HAP40"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (P23610.2);
                     acetylation site"
     misc_feature    120..128
                     /gene="F8A2"
                     /gene_synonym="HAP40"
                     /note="propagated from UniProtKB/Swiss-Prot (P23610.2);
                     Region: Nuclear localization signal.
                     /evidence=ECO:0000250|UniProtKB:Q00558"
     misc_feature    657..770
                     /gene="F8A2"
                     /gene_synonym="HAP40"
                     /note="propagated from UniProtKB/Swiss-Prot (P23610.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 aagtgcttgg ggcggcgagc atggcggcag cggctgcagg cctgggcggc ggcggcgccg
       61 gcccgggacc cgaggccggg gacttcctgg cccgctaccg gctggtatcg aacaagctga
      121 agaagcggtt cctgcggaag ccgaacgtgg cggaggccgg cgagcagttc ggacagctgg
      181 gccgggagct gcgcgcccag gagtgtctgc cctacgcggc ctggtgccag ctggcggtgg
      241 cgcgctgcca gcaggcgctc ttccacgggc ccggggaggc gctggccctc accgaggccg
      301 cccgcctctt cctgcggcag gagcgcgacg cgcgccagcg cctggtctgc cccgccgcct
      361 acggggagcc gctgcaggcc gccgccagcg ccctgggcgc cgcggtgcgt ctgcacctcg
      421 agctgggcca gccggccgcc gccgccgccc tctgcctcga gctggccgcc gccctgcgcg
      481 acctgggcca gccggccgcc gccgccggtc acttccagcg cgccgcccag ctccagctgc
      541 cccagctgcc cctggccgcg ctgcaggcgc ttggcgaggc cgcctcctgc cagctgctgg
      601 cgcgcgacta caccggcgcc ctggcggtct tcacgcgcat gcagcgcctg gcgcgggagc
      661 acggcagcca cccggtgcag tcactgccgc cgcccccgcc gccggcaccc cagcccgggc
      721 ccggggcgac gcccgcccta ccggccgcgc tgcttcctcc gaactccggc tcggcggcgc
      781 cctctcccgc cgccctgggc gccttctcgg acgtgctggt ccgctgcgag gtgtcccgcg
      841 tgctgctgct gctcctcctg caaccaccgc ccgccaagct gctgccggag cacgcccaga
      901 ccctggagaa gtactcctgg gaggcttttg acagccacgg gcaggagagc agcggccagc
      961 ttcccgagga gctctttctg ctgctccagt ctttggtcat ggctacccac gaaaaggaca
     1021 cggaagccat caagtcgctg caggtggaga tgtggccact gttgactgct gagcagaacc
     1081 acctccttca cctcgttctg caagaaacca tctccccctc aggacaggga gtctgatcca
     1141 tcccattcac ccagtgactt ctttttgccc aggccgggac tttttgcatc agtcacgtta
     1201 accagatgac tttgcctgtt accaaacctc atgcatccac gtttgcgtct ggggaggaat
     1261 aaaaagacat cgttcccgct tctgcgtttt gttattccta ctgccgccat aggaattatt
     1321 tcgttggctg aacgttacca gcaccccgag aacacatttt gatagaatca gagtagagga
     1381 catggctgtc ttctaaaaag ccacgacatg aaaatgacaa tccctttcgt ctccttcctc
     1441 cgctgcttcc acccaacgca gcctcctgcc tccgcctttg tttcatagtg aggattttat
     1501 tttgcacggc gccctccctc taaataccta ccctagatga tttcatcctg cccctcactt
     1561 cttaacatat tcctgtgtct ttgtaatggc caaatttctc cttccactcg tccgcacggt
     1621 acgtcttcat gggagtcatt ttattcctta cagcttcctt gtaaccacag ccctaaatcc
     1681 atgataaagc tactcttgta ctcctca
//
LOCUS       NM_001007524            1707 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens coagulation factor VIII associated 3 (F8A3), mRNA.
ACCESSION   NM_001007524
VERSION     NM_001007524.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1707)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1707)
  AUTHORS   Guo Q, Bin Huang, Cheng J, Seefelder M, Engler T, Pfeifer G, Oeckl
            P, Otto M, Moser F, Maurer M, Pautsch A, Baumeister W,
            Fernandez-Busnadiego R and Kochanek S.
  TITLE     The cryo-electron microscopy structure of huntingtin
  JOURNAL   Nature 555 (7694), 117-120 (2018)
   PUBMED   29466333
REFERENCE   3  (bases 1 to 1707)
  AUTHORS   Huang ZN and Her LS.
  TITLE     The Ubiquitin Receptor ADRM1 Modulates HAP40-Induced Proteasome
            Activity
  JOURNAL   Mol Neurobiol 54 (9), 7382-7400 (2017)
   PUBMED   27815841
REFERENCE   4  (bases 1 to 1707)
  AUTHORS   Pal A, Severin F, Lommer B, Shevchenko A and Zerial M.
  TITLE     Huntingtin-HAP40 complex is a novel Rab5 effector that regulates
            early endosome motility and is up-regulated in Huntington's disease
  JOURNAL   J Cell Biol 172 (4), 605-618 (2006)
   PUBMED   16476778
REFERENCE   5  (bases 1 to 1707)
  AUTHORS   Bagnall RD, Ayres KL, Green PM and Giannelli F.
  TITLE     Gene conversion and evolution of Xq28 duplicons involved in
            recurring inversions causing severe hemophilia A
  JOURNAL   Genome Res 15 (2), 214-223 (2005)
   PUBMED   15687285
REFERENCE   6  (bases 1 to 1707)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   7  (bases 1 to 1707)
  AUTHORS   Naylor JA, Buck D, Green P, Williamson H, Bentley D and Giannelli F.
  TITLE     Investigation of the factor VIII intron 22 repeated region (int22h)
            and the associated inversion junctions
  JOURNAL   Hum Mol Genet 4 (7), 1217-1224 (1995)
   PUBMED   8528212
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AL554983.3, AL582641.3 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000622749.2/ ENSP00000477530.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX571846.3.
            On Dec 4, 2019 this sequence version replaced NM_001007524.1.
            Summary: This gene is part of a region that is repeated three times
            on chromosome X, once in intron 22 of the F8 gene and twice closer
            to the Xq telomere. This record represents the most telomeric copy.
            Although its function is unknown, the observation that this gene is
            conserved in the mouse implies it has some function. Unlike factor
            VIII, this gene is transcribed abundantly in a wide variety of cell
            types. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1707
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1707
                     /gene="F8A3"
                     /gene_synonym="HAP40"
                     /note="coagulation factor VIII associated 3"
                     /db_xref="GeneID:474384"
                     /db_xref="HGNC:HGNC:31850"
     CDS             21..1136
                     /gene="F8A3"
                     /gene_synonym="HAP40"
                     /note="coagulation factor VIII-associated (intronic
                     transcript) 3; factor VIII intron 22 protein; cpG island
                     protein"
                     /codon_start=1
                     /product="40-kDa huntingtin-associated protein"
                     /protein_id="NP_001007525.1"
                     /db_xref="CCDS:CCDS35463.1"
                     /db_xref="GeneID:474384"
                     /db_xref="HGNC:HGNC:31850"
                     /translation="MAAAAAGLGGGGAGPGPEAGDFLARYRLVSNKLKKRFLRKPNVAE
                     AGEQFGQLGRELRAQECLPYAAWCQLAVARCQQALFHGPGEALALTEAARLFLRQERDA
                     RQRLVCPAAYGEPLQAAASALGAAVRLHLELGQPAAAAALCLELAAALRDLGQPAAAAG
                     HFQRAAQLQLPQLPLAALQALGEAASCQLLARDYTGALAVFTRMQRLAREHGSHPVQSL
                     PPPPPPAPQPGPGATPALPAALLPPNSGSAAPSPAALGAFSDVLVRCEVSRVLLLLLLQ
                     PPPAKLLPEHAQTLEKYSWEAFDSHGQESSGQLPEELFLLLQSLVMATHEKDTEAIKSL
                     QVEMWPLLTAEQNHLLHLVLQETISPSGQGV"
     misc_feature    24..26
                     /gene="F8A3"
                     /gene_synonym="HAP40"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (P23610.2);
                     acetylation site"
     misc_feature    120..128
                     /gene="F8A3"
                     /gene_synonym="HAP40"
                     /note="propagated from UniProtKB/Swiss-Prot (P23610.2);
                     Region: Nuclear localization signal.
                     /evidence=ECO:0000250|UniProtKB:Q00558"
     misc_feature    657..770
                     /gene="F8A3"
                     /gene_synonym="HAP40"
                     /note="propagated from UniProtKB/Swiss-Prot (P23610.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1683..1688
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F8A3"
                     /gene_synonym="HAP40"
                     /note="hexamer: GATAAA"
     polyA_site      1707
                     /gene="F8A3"
                     /gene_synonym="HAP40"
                     /note="major polyA site"
ORIGIN
        1 aagtgcttgg ggcggcgagc atggcggcag cggctgcagg cctgggcggc ggcggcgccg
       61 gcccgggacc cgaggccggg gacttcctgg cccgctaccg gctggtatcg aacaagctga
      121 agaagcggtt cctgcggaag ccgaacgtgg cggaggccgg cgagcagttc ggacagctgg
      181 gccgggagct gcgcgcccag gagtgtctgc cctacgcggc ctggtgccag ctggcggtgg
      241 cgcgctgcca gcaggcgctc ttccacgggc ccggggaggc gctggccctc accgaggccg
      301 cccgcctctt cctgcggcag gagcgcgacg cgcgccagcg cctggtctgc cccgccgcct
      361 acggggagcc gctgcaggcc gccgccagcg ccctgggcgc cgcggtgcgt ctgcacctcg
      421 agctgggcca gccggccgcc gccgccgccc tctgcctcga gctggccgcc gccctgcgcg
      481 acctgggcca gccggccgcc gccgccggtc acttccagcg cgccgcccag ctccagctgc
      541 cccagctgcc cctggccgcg ctgcaggcgc ttggcgaggc cgcctcctgc cagctgctgg
      601 cgcgcgacta caccggcgcc ctggcggtct tcacgcgcat gcagcgcctg gcgcgggagc
      661 acggcagcca cccggtgcag tcactgccgc cgcccccgcc gccggcaccc cagcccgggc
      721 ccggggcgac gcccgcccta ccggccgcgc tgcttcctcc gaactccggc tcggcggcgc
      781 cctctcccgc cgccctgggc gccttctcgg acgtgctggt ccgctgcgag gtgtcccgcg
      841 tgctgctgct gctcctcctg caaccaccgc ccgccaagct gctgccggag cacgcccaga
      901 ccctggagaa gtactcctgg gaggcttttg acagccacgg gcaggagagc agcggccagc
      961 ttcccgagga gctctttctg ctgctccagt ctttggtcat ggctacccac gaaaaggaca
     1021 cggaagccat caagtcgctg caggtggaga tgtggccact gttgactgct gagcagaacc
     1081 acctccttca cctcgttctg caagaaacca tctccccctc aggacaggga gtctgatcca
     1141 tcccattcac ccagtgactt ctttttgccc aggccgggac tttttgcatc agtcacgtta
     1201 accagatgac tttgcctgtt accaaacctc atgcatccac gtttgcgtct ggggaggaat
     1261 aaaaagacat cgttcccgct tctgcgtttt gttattccta ctgccgccat aggaattatt
     1321 tcgttggctg aacgttacca gcaccccgag aacacatttt gatagaatca gagtagagga
     1381 catggctgtc ttctaaaaag ccacgacatg aaaatgacaa tccctttcgt ctccttcctc
     1441 cgctgcttcc acccaacgca gcctcctgcc tccgcctttg tttcatagtg aggattttat
     1501 tttgcacggc gccctccctc taaataccta ccctagatga tttcatcctg cccctcactt
     1561 cttaacatat tcctgtgtct ttgtaatggc caaatttctc cttccactcg tccgcacggt
     1621 acgtcttcat gggagtcatt ttattcctta cagcttcctt gtaaccacag ccctaaatcc
     1681 atgataaagc tactcttgta ctcctca
//
LOCUS       NM_001007525            7764 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens NACHT and WD repeat domain containing 1 (NWD1),
            transcript variant 1, mRNA.
ACCESSION   NM_001007525
VERSION     NM_001007525.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7764)
  AUTHORS   Yang Q, Huang Z, Luo Y, Zheng F, Hu Y, Liu H, Zhu S, He M, Xu D, Li
            Y, Yang M, Yang Y, Wei X, Gao X, Wang W, Ma J, Ma Y, Wang X and Wang
            Q.
  TITLE     Inhibition of Nwd1 activity attenuates neuronal hyperexcitability
            and GluN2B phosphorylation in the hippocampus
  JOURNAL   EBioMedicine 47, 470-483 (2019)
   PUBMED   31474551
  REMARK    GeneRIF: our study contributes to the understanding of the
            biological role of Nwd1 at the synapse and the characterization of
            the beneficial effects of Nwd1 in the treatment of seizures.
REFERENCE   2  (bases 1 to 7764)
  AUTHORS   Watanabe Y, Nunokawa A, Shibuya M, Ikeda M, Hishimoto A, Kondo K,
            Egawa J, Kaneko N, Muratake T, Saito T, Okazaki S, Shimasaki A,
            Igeta H, Inoue E, Hoya S, Sugai T, Sora I, Iwata N and Someya T.
  TITLE     Rare truncating variations and risk of schizophrenia: Whole-exome
            sequencing in three families with affected siblings and a
            three-stage follow-up study in a Japanese population
  JOURNAL   Psychiatry Res 235, 13-18 (2016)
   PUBMED   26706132
REFERENCE   3  (bases 1 to 7764)
  AUTHORS   Correa RG, Krajewska M, Ware CF, Gerlic M and Reed JC.
  TITLE     The NLR-related protein NWD1 is associated with prostate cancer and
            modulates androgen receptor signaling
  JOURNAL   Oncotarget 5 (6), 1666-1682 (2014)
   PUBMED   24681825
  REMARK    GeneRIF: Overexpression of NWD1 is associated with prostate cancer.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CR749794.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2153427 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000524140.7/ ENSP00000428579.2
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008737.11, BX489211.1,
            CR749794.1, BC117698.1, AK090685.1 and CB242932.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001007525.4.
            Summary: The protein encoded by this gene is thought to be a
            cytosolic protein and predicted to contain a NACHT domain and
            multiple WD40 repeats. Increased expression of this gene was
            observed in some prostate cancer cell lines. Knocking down
            expression of this gene results in decreased androgen receptor
            protein levels, indicating that this gene may be important in
            modulating androgen receptor activity. Alternative splicing results
            in multiple transcript variants encoding different isoforms.
            [provided by RefSeq, Dec 2016].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7764
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..7764
                     /gene="NWD1"
                     /note="NACHT and WD repeat domain containing 1"
                     /db_xref="GeneID:284434"
                     /db_xref="HGNC:HGNC:27619"
                     /db_xref="MIM:616250"
     misc_feature    486..488
                     /gene="NWD1"
                     /note="upstream in-frame stop codon"
     CDS             552..4850
                     /gene="NWD1"
                     /note="isoform 1 is encoded by transcript variant 1; NACHT
                     and WD repeat domain-containing protein 1; NACHT domain-
                     and WD repeat-containing protein 1"
                     /codon_start=1
                     /product="NACHT domain- and WD repeat-containing protein 1
                     isoform 1"
                     /protein_id="NP_001007526.3"
                     /db_xref="CCDS:CCDS32945.2"
                     /db_xref="GeneID:284434"
                     /db_xref="HGNC:HGNC:27619"
                     /db_xref="MIM:616250"
                     /translation="MQRGKPCRALPTLKCQTFCQRHGLMFEVVDLRWGIRNIEATDHLT
                     TELCLEEVDRCWKTSIGPAFVALIGDQYGPCLIPSRIDEKEWEVLRDHLTARPSDLELV
                     ARYFQRDENAFPPTYVLQAPGTGEACEPEEATLTSVLRSGAQEARRLGLITQEQWQHYH
                     RSVIEWEIERSLLSSEDREQGATVFLREIQDLHKHILEDCALRMVDRLADGCLDADAQN
                     LLSSLKSHITDMHPGVLKTHRLPWSRDLVNPKNKTHACYLKELGEQFVVRANHQVLTRL
                     RELDTAGQELAWLYQEIRHHLWQSSEVIQTFCGRQELLARLGQQLRHDDSKQHTPLVLF
                     GPPGIGKTALMCKLAEQMPRLLGHKTVTVLRLLGTSQMSSDARGLLKSICFQVCLAYGL
                     PLPPAQVLDAHTRVVQFFHTLLHTVSCRNFESLVLLLDAMDDLDSVRHARRVPWLPLNC
                     PPRVHLILSACSGALGVLDTLQRVLLDPEAYWEVKPLSGNQGQQMIQLLLAAARRTLSP
                     VHTDLLWASLPECGNPGRLRLAFEEARKWASFTVPVPLATTAEEATHQLCTRLEQTHGQ
                     LLVAHVLGYIVSSRHGLSEAELKDVLSLDDEVLQDVYRDWTPPSKELLRFPPLLWVRLR
                     RDLGYYLARRPVDGFTLLAIAHRQLVEVVRERYLSGSERAKRHGVLADFFSGTWSQGTK
                     KLITLPLVGKPLNLDRKVAPQPLWFSHTVANLRKLKELPYHLLHSGRLEELKQEVLGSM
                     SWISCRGISGGIEDLLDDFDLCAPHLDSPEVGLVREALQLCRPAVELRGMERSLLYTEL
                     LARLHFFATSHPALVGQLCQQAQSWFQLCAHPVLVPLGGFLQPPGGPLRATLSGCHKGI
                     TAMAWGVEEKLLVIGTQDGIMAVWDMEEQHVIHMLTGHTGEVRCVKIFAKGTLANSASK
                     DYTLHLWNLLSGQEKFTIWDGGSKNPAEPQIWNLHVDEAHKVVYSASGSKINAWNLETA
                     EPVFHILGDASDPWMCMAVLASQATLLTVSRDGVVSLWSSATGKLQGKQHMSSIKEETP
                     TCAVSVQKQGKLVTGFSNGSISLVSSKGDRLLEKLPDAVRFLVVSEDESLLAAGFGRSV
                     RIFLADSRGFRRFMAMDLEHEDMVETAVFGTENNLIITGSLDALIQVWSLSEQGTLLDI
                     LEGVGAPVSLLARGGALVASASPQSSSFKVWDLSDAHRSRVPAPFLDRTGLTAVSHNGS
                     YVYFPKIGDKNKVTIWDLAEGEEQDSLDTSSEIRCLEVAEQRKLLFTGLVSGVVLVFPL
                     NSRQDVICIPPPEARKAINCMSLSKCEDRLAIAYDNIVLVLDITSGDPCPVIDGPRYTF
                     YTQLPETLSSVAILTDYRVVYSMTNGDLFLYECATSKAFPLETHRSRVACVEVSHKEQL
                     VVSGSEDALLCLWDLQARKWKFEMSYTAPC"
     misc_feature    3147..3266
                     /gene="NWD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149M9.3);
                     Region: WD 1"
     misc_feature    3273..3392
                     /gene="NWD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149M9.3);
                     Region: WD 2"
     misc_feature    3417..3533
                     /gene="NWD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149M9.3);
                     Region: WD 3"
     misc_feature    3543..3662
                     /gene="NWD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149M9.3);
                     Region: WD 4"
     misc_feature    3681..3797
                     /gene="NWD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149M9.3);
                     Region: WD 5"
     misc_feature    3798..3914
                     /gene="NWD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149M9.3);
                     Region: WD 6"
     misc_feature    3927..4046
                     /gene="NWD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149M9.3);
                     Region: WD 7"
     misc_feature    4050..4172
                     /gene="NWD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149M9.3);
                     Region: WD 8"
     misc_feature    4185..4304
                     /gene="NWD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149M9.3);
                     Region: WD 9"
     misc_feature    4308..4421
                     /gene="NWD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149M9.3);
                     Region: WD 10"
     misc_feature    4422..4532
                     /gene="NWD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149M9.3);
                     Region: WD 11"
     misc_feature    4563..4679
                     /gene="NWD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149M9.3);
                     Region: WD 12"
     misc_feature    4689..4805
                     /gene="NWD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149M9.3);
                     Region: WD 13"
     regulatory      7746..7751
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NWD1"
                     /note="hexamer: AATAAA"
     polyA_site      7764
                     /gene="NWD1"
                     /note="major polyA site"
ORIGIN
        1 agttgctggg agaattgggc aaggagagac ccataaaata cctaagacga aagttactag
       61 gatagccagg ggcttgtctt ccgggtggcg ccgaggccag gaaactgtcc tctctaacct
      121 atttccccag aggagtctaa attggtcgtt caactaccag caaaggctaa agagaggctg
      181 gagcccccag gacagccaga acgctgacac tgcaaagggc ctctgtcctt actggggaag
      241 cccagtcctg ctcagctgtc ttcttcagca acaaacagaa gtccagaaag agaaacagtt
      301 gtggaggaag ctgttgtgat gataatttac tgagcaccta ctatgtgcca ggcacgccag
      361 ccttaccaga caagatcctt gggctcatgg aattcacttt ctcgtgggac agacaaacaa
      421 taacatgtag aaacatatca gctgttgacc atgcggccga tgccctggga gggagaccac
      481 ttgcttaagt cctccaggag ggcgatggag gagccggcat tccaaccagg ctcacggatg
      541 ccaagatatg gatgcagaga gggaagccct gcagagcact gcctaccctg aagtgccaga
      601 ccttctgcca gaggcacggc ttgatgtttg aggtcgttga tctgaggtgg ggtattcgga
      661 acattgaagc cactgaccac ttgaccacag aactctgctt ggaggaggtt gaccggtgtt
      721 ggaaaacatc catagggcca gcttttgttg ccctcatcgg tgatcagtac ggcccctgtc
      781 tgattccctc gcggatcgat gagaaggagt gggaggtatt gagggaccat ctgactgcca
      841 ggccaagtga cctggagctg gtggcacgat acttccagag ggacgagaat gcgtttcctc
      901 ccacctacgt cctgcaggca ccaggtactg gggaggcctg tgaaccagag gaggccacct
      961 taacttctgt cctacgctct ggagcccagg aggcccggag gctggggctc atcacccagg
     1021 agcagtggca gcactaccac cggtcagtca ttgagtggga gatagagcgg agcctgctga
     1081 gctcagagga ccgggaacag ggagccaccg tcttccttag agagatccaa gacctccaca
     1141 aacacatcct tgaagactgc gcccttagga tggtggaccg gctcgcggat ggctgcctgg
     1201 acgctgatgc ccagaacctt ctcagcagcc tcaaaagtca catcactgac atgcacccag
     1261 gggtcctcaa gacccaccgc ctgccgtgga gccgcgactt ggtgaacccc aagaacaaga
     1321 ctcacgcctg ctacctgaag gagctgggtg agcagtttgt ggtgagggcc aatcaccagg
     1381 tcctcacacg cctccgtgag ctggatacgg ccggacagga gttggcgtgg ctctaccaag
     1441 agatccgcca ccacctttgg cagagctcgg aggtcattca gaccttctgc ggacgccagg
     1501 aactcctggc ccggcttggg cagcagctca ggcacgatga cagcaagcag cacacccccc
     1561 tggtactctt tgggccccca ggcattggaa agacagccct gatgtgcaag ctggctgagc
     1621 agatgccaag gctgctgggg cacaagacag tgaccgtcct gcggctgctg gggacgtcac
     1681 aaatgagctc agatgcccgt ggcctgctga agagcatctg cttccaggtg tgcctggcct
     1741 atgggctgcc cttgccccct gcccaggttc tggacgccca caccagggtg gtccagtttt
     1801 tccataccct cctccacact gtctcttgca gaaacttcga gtctctcgtg ctcctgctgg
     1861 atgctatgga tgacctggac tctgtccgcc atgctcggag ggttccctgg ctgcctctca
     1921 actgcccccc gagggtgcac ctcatcctct cagcttgctc gggggcactg ggggttttgg
     1981 acaccttgca gcgggtgctc ctggacccgg aggcctactg ggaggtgaag cccctttccg
     2041 gaaaccaagg ccagcagatg atccaactcc tgctggcagc tgcaaggagg acgctgagcc
     2101 cggtgcacac agatttgctc tgggccagcc tcccagagtg tgggaaccca gggcggctga
     2161 ggctggcgtt tgaggaagcc cggaaatggg cctctttcac cgtgcctgtc ccgctggcca
     2221 ccaccgcaga ggaagccacg caccaactct gcacccgcct ggagcagaca cacgggcagc
     2281 tcctcgtggc ccacgtgctg ggctacattg tgtcttcccg acacggtctc tcggaggcgg
     2341 agctgaagga tgttttgtcc ctggacgacg aggtcctgca ggatgtgtac cgagattgga
     2401 ccccgcccag caaggagctg ctgcgcttcc cgcccctgct gtgggtgcgg cttcgtcggg
     2461 atctgggata ctacttggcc cggcggcccg tggatggctt caccctcctg gccattgccc
     2521 acagacagct ggtcgaggtg gtccgtgagc gctacctgtc aggatccgag agagccaaga
     2581 ggcatggcgt cctggccgac ttcttctcag ggacctggag ccagggtacc aagaagctca
     2641 tcactctgcc acttgtgggg aaaccactga acttggaccg aaaggtggcc ccgcagcctc
     2701 tgtggttctc acatacggtt gcaaacctgc ggaagctgaa ggagttgccc tatcacctgc
     2761 ttcactcggg ccgcctggag gagctgaaac aggaggttct gggcagcatg agctggattt
     2821 cctgccgggg catctctggg ggcattgaag acctgctgga tgactttgac ctgtgtgccc
     2881 ctcacctgga ctcccctgag gttggcctgg tccgtgaagc cctccagctc tgccgccctg
     2941 ctgtggagct ccgaggcatg gagaggagcc tcctgtacac agaactgctg gccagactcc
     3001 atttcttcgc cacctcacat ccagcactgg tgggacagct atgccaacag gcccagagct
     3061 ggttccagtt gtgcgcacac cctgtgctgg tgcccctcgg aggattcctc cagcccccgg
     3121 gaggacccct ccgggcaact ctcagcggct gtcacaaagg catcaccgcc atggcatggg
     3181 gtgtggagga gaagctgctg gtgattggca cccaggatgg catcatggct gtgtgggaca
     3241 tggaagagca gcatgtgatc cacatgctaa ctggacacac aggagaggtg aggtgtgtga
     3301 aaatatttgc caaagggacc ctcgccaact ctgcttcaaa ggattacacg ctgcacttgt
     3361 ggaacttact ctctggccag gagaaattta ccatttggga tggaggctca aaaaatcccg
     3421 ctgaacctca gatctggaac cttcatgtgg atgaggcaca caaagttgtg tattcagcat
     3481 ctggctcaaa gatcaatgct tggaatctgg aaactgcaga gccggtattc catatcctgg
     3541 gagatgcctc tgatccttgg atgtgcatgg ccgtgctggc ctcccaggcc acactgctga
     3601 cagtgtccag ggatggtgtg gtcagtctgt ggagctcagc tacgggaaaa cttcagggga
     3661 agcaacatat gtccagcatc aaagaagaaa cacctacctg tgccgtctca gtccagaagc
     3721 aaggaaagct tgttaccggg tttagcaatg gctccatctc tttggtttcc tccaaagggg
     3781 acagattgct ggagaagctt ccagatgctg tgaggttcct ggtggtctct gaagatgagt
     3841 ccctcctcgc cgcaggcttt ggaagatcgg tgcggatatt cttggcggac tcgaggggct
     3901 ttcgccgatt catggccatg gatctggaac atgaagacat ggtggagacg gctgtttttg
     3961 gtactgagaa caacctgatc atcacggggt cccttgatgc gctcattcag gtgtggagtc
     4021 tgtcagaaca ggggaccctt ctggacatcc tggaaggcgt cggggccccc gtgagcctgc
     4081 tggcccgcgg cggggctttg gtggcatctg cttccccaca gtcctcatct ttcaaggtct
     4141 gggatctcag cgatgctcat aggtcccggg tgcctgcacc atttctggac cgcaccggcc
     4201 tcaccgcagt gtcccacaat ggaagctacg tctacttccc caaaattggg gacaaaaaca
     4261 aagtcactat ttgggacttg gcagaaggcg aggaacaaga ttccctggac acctccagtg
     4321 agatcaggtg tctggaggtt gctgagcagc gcaagctcct atttacgggc ctcgtgtcgg
     4381 gggtcgtcct tgtgttcccc ctgaattcca ggcaggacgt gatatgcatt ccccctcccg
     4441 aggcccggaa agcaatcaac tgcatgtccc tgagcaagtg cgaggaccgc ctggccatcg
     4501 cctatgacaa catcgtcctg gtgctggaca tcacctccgg ggacccctgc ccggtcatcg
     4561 atgggccaag atacaccttt tacactcagc tgcccgagac cctctccagc gtggccattc
     4621 tgacggacta ccgcgtggtc tacagcatga ccaatgggga cctctttctt tacgagtgtg
     4681 caacttccaa agcgtttccc ttggagaccc acaggagccg agttgcctgt gtggaggtca
     4741 gccacaagga gcagctggtg gtcagcgggt ctgaggatgc cctgctgtgt ctctgggacc
     4801 tgcaggcacg caagtggaaa ttcgagatga gctacacggc accctgctga cagtccagtt
     4861 tgtccatgct gtggtaaaca gaatcatccc aaccaccagt ggcttcattg cccccaccag
     4921 gcatggttat ctgatccgag agaatttcca gtgcctttca gcaaaagcct caccgcagga
     4981 ccctcttaag aacttcaaga aggcaatgtg gatggtcaaa tccaggcaga gagaggagct
     5041 agttgcagct gcaggagctc cccaggactt ggagtcagaa agtgcccagg gaaatgaaac
     5101 caaatcaaac aaatgctcac aagtgtgcct gatagtgtaa aaaaataaaa ataaaaaaac
     5161 cctgtggggg tatggggctc cagtgagtta gccccattta atctagttaa agcaaaaaga
     5221 atacgtttgc tggtgtatat ctggacccat ggcttcagat tatggcttca gaccttgtct
     5281 cttctcatct ttccattatt ctttcctctt tttcattttc attctcagac ttgccacccc
     5341 caggttagca acatggtggc caatatgctg ctgtctccaa tttcaataga aaagagagct
     5401 tctctttccc aacagtccta gcctcaactc tactggtccc aattggccca tacgcctagc
     5461 cctaaaccaa ttattatatc tgggagaatg cagagctcta atcggctaga ctgatccaat
     5521 gtccaccact gggactgaga atagaagaga ttactcctga gatgcaaact ggagttctgg
     5581 taccagatga agggggaacg gatgaatgtg agatacagca aatcactgat gtggaccaca
     5641 gaacctcaca gtttataaag ctgtaggtgc tgtcatctga tcctcatcac aactcatact
     5701 ttagggaggg caggagtttc tgtatctatt ttacagatga ggaaactgag ccttgcggaa
     5761 gtagttataa tttgattcag gtcacaagtc caaggtgcaa gagctctgag agtgagcctt
     5821 ctgtcccatt cctgttagac ctcactccaa tttcagtctg cagagcacaa ccatctcttc
     5881 cacaggcacc acactcaaat gctcacagga gctagtgact aatctagaca cttccatgca
     5941 cctgggtgag cagcagggag agacagagac tggacatgtg gaaggcagag attgtgtcta
     6001 gggtgggtat gagcagcctg actgtagccc agaatcacca tggccaaaca agcccactgc
     6061 tgtcagtgct tccagttgta ataagcaaag ccagaaatcc agacttttat gcaaaaatgt
     6121 tctgactttt aaagttggcg attggttgaa tttatatcta tagtgcattt ggcatgtgcg
     6181 tctttggtta atgagctgac ttcaggactc acgctggcag taaaacaatc aacatgttat
     6241 agttcatccc tctctattcc ttggctccca aacttttggg ataaagatgt gggtttttaa
     6301 tcttaaaaac tggaggctct tggaagtaga aagagctgct gatctctccc tgctttgctt
     6361 ttgaactgtc tgccttgtgc aagttcaaca gtcaaactgt tttcattcca cttaagtgga
     6421 tctttcttct ttgcccacag ccttctaaaa gcccttctca gtcttctcag gcttttactt
     6481 taatgctagg atagtctaaa tcttcaaggt ggctatccct tctcccctcc gtggaattcc
     6541 tgatagagtc tcaataaaag caaccttaga aacagaggct tttgagctga acaagaccct
     6601 actgctgtct tattcatcca ttttccaaac cagttttcca aggcaggttt tggtagttct
     6661 gcaaatgtta gtgtcaaatt tcatttaaaa atattttaaa ctgtaatttt aagatgtatg
     6721 cttggatgta ttgggcagca gcttctaagg tgttgaagat tactaaggtt ggtgcaaaaa
     6781 gtaactgtgg ttttcgccat taaaaatatt aaaaataatg gcaaaaactg gctgggcaca
     6841 gtggctcaca cctgtggtcc cagctctttg gaaggccgag gcaggtggat cacctgaggt
     6901 caggagtttg agaccagcct ggacaacatg gtgaaaccct tctctactaa aaatacaaaa
     6961 atcagccagg catggtggtg agtgcctgta atctcagtta ctcaggaggc tgagtcagga
     7021 gaatcacttg aacccgggag gcggaggttg cagtgagctg agattgtgcc actgcactcc
     7081 agcctgggtg acagagcaag actccatctc ataataataa taataatggc aaaagcctcg
     7141 gtggctcacg cctgtaatcc cagcactttg ggaggctgag gcgggtggat cacttgaggc
     7201 caggtgttca agagcagcct ggtcaacatg gtgaaactct gtctctactc aaaaatacaa
     7261 aaattagcct ggtgtggtga cgtacacctg taattccagc tacttgggag gctgaggcag
     7321 gagaatggct tgaacccggg aggcggaggt tgcagtgagc cgagatcgca ccactgcact
     7381 ccagcatgag tgacagagac tctgtctcca aaaaaaaaaa aaaaaaaaag taatggcaaa
     7441 aaccacaatt aattttgcat caacctaata atttaggatt cttctgccat tttcatttaa
     7501 ctgatttaac tgaagagccc aattaaattg tgaagggagc cctgaaaaaa ttagctactc
     7561 tttgccactg cttctctgtg aatcaagggc ttacccaatg cagaaataaa gtagatgttg
     7621 agaccaatta agatttcacc tacaaattct gattttaaat gcctgtgtcc atctccacag
     7681 cctcagtgag aattgattgt tttgtagata aatcctaatt taaacattgg aaatgccttt
     7741 ttactaataa aatgctacaa caaa
//
LOCUS       NM_001007527            8116 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.
ACCESSION   NM_001007527
VERSION     NM_001007527.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8116)
  AUTHORS   Malhotra A, Ziegler A, Shu L, Perrier R, Amlie-Wolf L, Wohler E,
            Lygia de Macena Sobreira N, Colin E, Vanderver A, Sherbini O,
            Stouffs K, Scalais E, Serretti A, Barth M, Navet B, Rollier P, Xi H,
            Wang H, Zhang H, Perry DL, Ferrarini A, Colombo R, Pepler A,
            Schneider A, Tomiwa K, Okamoto N, Matsumoto N, Miyake N, Taft R, Mao
            X and Bonneau D.
  TITLE     De novo missense variants in LMBRD2 are associated with
            developmental and motor delays, brain structure abnormalities and
            dysmorphic features
  JOURNAL   J Med Genet 58 (10), 712-716 (2021)
   PUBMED   32820033
  REMARK    GeneRIF: De novo missense variants in LMBRD2 are associated with
            developmental and motor delays, brain structure abnormalities and
            dysmorphic features.
REFERENCE   2  (bases 1 to 8116)
  AUTHORS   Paek J, Kalocsay M, Staus DP, Wingler L, Pascolutti R, Paulo JA,
            Gygi SP and Kruse AC.
  TITLE     Multidimensional Tracking of GPCR Signaling via Peroxidase-Catalyzed
            Proximity Labeling
  JOURNAL   Cell 169 (2), 338-349 (2017)
   PUBMED   28388415
REFERENCE   3  (bases 1 to 8116)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   4  (bases 1 to 8116)
  AUTHORS   Yang JJ, Cheng C, Yang W, Pei D, Cao X, Fan Y, Pounds SB, Neale G,
            Trevino LR, French D, Campana D, Downing JR, Evans WE, Pui CH,
            Devidas M, Bowman WP, Camitta BM, Willman CL, Davies SM, Borowitz
            MJ, Carroll WL, Hunger SP and Relling MV.
  TITLE     Genome-wide interrogation of germline genetic variation associated
            with treatment response in childhood acute lymphoblastic leukemia
  JOURNAL   JAMA 301 (4), 393-403 (2009)
   PUBMED   19176441
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.69663.1,
            SRR1660807.242960.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000296603.5/ ENSP00000296603.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX647340.1, CR749399.1, AK091295.1, AL137370.1 and AC008942.6.
            On Nov 22, 2018 this sequence version replaced NM_001007527.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8116
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     gene            1..8116
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="LMBR1 domain containing 2"
                     /db_xref="GeneID:92255"
                     /db_xref="HGNC:HGNC:25287"
                     /db_xref="MIM:619490"
     misc_feature    357..359
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="upstream in-frame stop codon"
     CDS             390..2477
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="LMBR1 domain-containing protein 2"
                     /codon_start=1
                     /product="G-protein coupled receptor-associated protein
                     LMBRD2"
                     /protein_id="NP_001007528.1"
                     /db_xref="CCDS:CCDS34145.1"
                     /db_xref="GeneID:92255"
                     /db_xref="HGNC:HGNC:25287"
                     /db_xref="MIM:619490"
                     /translation="MSGAALGLEIVFVFFLALFLLHRYGDFKKQHRLVIIGTLLAWYLC
                     FLIVFILPLDVSTTIYNRCKHAAANSSPPENSNITGLYATANPVPSQHPCFKPWSYIPD
                     GIMPIFWRVVYWTSQFLTWILLPFMQSYARSGGFSITGKIKTALIENAIYYGTYLLIFG
                     AFLIYVAVNPHLHLEWNQLQTIGIAAANTWGLFLLVLLLGYGLVEIPRSYWNGAKRGYL
                     LMKTYFKAAKLMTEKADAEENLEDAMEEVRKVNESIKYNHPLRKCVDTILKKCPTEYQE
                     KMGRNMDDYEDFDEKHSIYPSEKSLVKLHKQVIYSVQRHRRTQVQWQILLEQAFYLEDV
                     AKNETSATHQFVHTFQSPEPENRFIQYFYNPTFEWYWECLLRPWFYKILAVVLSIFSVI
                     VVWSECTFFSTTPVLSLFAVFIQLAEKTYNYIYIEIACFLSIFFLSICVYSTVFRIRVF
                     NYYYLASHHQTDAYSLLFSGMLFCRLTPPLCLNFLGLTHMDSSISHKNTQPTAYTSIMG
                     SMKVLSFIADGFYIYYPMLVVILCIATYFSLGTRCLNLLGFQQFMGDDDMTSDLVNEGK
                     ELIRKEKRKRQRQEEGENRRREWKERYGHNREDSTRNRNIHTDPKESNFSDVNTNRSAF
                     KYTRANNRTERDRIELLQDAEPLDFNAETFTDDPLESESGRYQPGGRYLSMSRSDIFND
                     V"
     misc_feature    405..452
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DH5.1);
                     transmembrane region"
     misc_feature    486..548
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DH5.1);
                     transmembrane region"
     misc_feature    621..623
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q68DH5.1); glycosylation site"
     misc_feature    705..767
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DH5.1);
                     transmembrane region"
     misc_feature    840..902
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DH5.1);
                     transmembrane region"
     misc_feature    948..1010
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DH5.1);
                     transmembrane region"
     misc_feature    1551..1613
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DH5.1);
                     transmembrane region"
     misc_feature    1686..1748
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DH5.1);
                     transmembrane region"
     misc_feature    1809..1871
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DH5.1);
                     transmembrane region"
     misc_feature    1953..2015
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DH5.1);
                     transmembrane region"
     misc_feature    2130..2273
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DH5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2286..2288
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q68DH5.1); phosphorylation site"
     misc_feature    2373..2435
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DH5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      7948..7953
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="hexamer: ATTACA"
     polyA_site      7967
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="major polyA site"
     regulatory      8086..8091
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
                     /note="hexamer: AATAAA"
     polyA_site      8116
                     /gene="LMBRD2"
                     /gene_synonym="DENBA"
ORIGIN
        1 gactgggaaa tgtcagccgc tggactgtag acggattttc ctttctcggg agcccgcagg
       61 ccttctggtg atcgccagcg ctgtcgtctc tgagcgtgga tcccagaacc tggacagctg
      121 tggcggccgc cgtttcccgg tcccgtccag acgctgtctg gcgagatcgg acggtgagcc
      181 taaggcggaa cgcgtgaggc gcttttgagt ctggggtccg gggccgagag caggcggaaa
      241 gagaggggac ccggcagacc ccgagtggcc gccgctgcgg ggcccaagtc cttggctgct
      301 gagtggtgac agtagcccag cccgccggcc agatatggtc cagacctgta catgaataac
      361 tttggttagt cagagtgaaa tattcaataa tgagtggtgc agctttggga cttgagattg
      421 tttttgtctt ttttctggca ttatttctgc ttcatcgata tggagacttt aagaaacagc
      481 atagacttgt gattattgga acactgcttg cttggtatct ctgctttctt attgtcttca
      541 tactgcctct ggatgttagt acgacaatat acaaccggtg caagcatgct gctgcaaatt
      601 caagccctcc tgagaatagc aacattacag gattgtacgc aactgctaac cctgttccaa
      661 gccagcatcc ttgtttcaag ccatggagtt acattcctga tggaatcatg ccaattttct
      721 ggagggtagt gtattggacg tcacaatttt taacatggat tctcttacct tttatgcagt
      781 catatgcaag atcaggaggg ttttccatca ctggaaagat caaaactgca ctaattgaga
      841 atgcaatcta ctatggcacc tatttgctga tttttggagc atttttaatt tatgtagctg
      901 taaacccaca tttacattta gaatggaacc agcttcagac aattgggata gctgctgcaa
      961 atacatgggg tctgtttctt cttgtgttgt tgttggggta tggcttggtg gaaattcctc
     1021 gatcatactg gaatggagca aaaaggggtt atctacttat gaaaacgtat tttaaggcag
     1081 ccaaactgat gacagagaaa gcagatgcag aagagaattt ggaagatgcc atggaggagg
     1141 ttcgtaaagt gaatgaaagc atcaagtata atcacccatt gagaaaatgt gttgatacaa
     1201 tacttaaaaa gtgccctaca gagtatcagg aaaaaatggg taggaacatg gatgattatg
     1261 aagattttga tgaaaagcat agtatctatc caagtgaaaa aagtctggta aaactgcata
     1321 aacaggtgat ttattcagtt cagagacacc gtcgaactca agtacaatgg cagattcttt
     1381 tggaacaagc attttatcta gaagatgtag caaaaaatga aactagtgct actcatcagt
     1441 ttgttcacac ctttcaatcg ccagagccag aaaatcgatt tatccaatat ttttataatc
     1501 ctacatttga atggtactgg gaatgtcttt tgcgaccatg gttttacaag atacttgctg
     1561 tggttctgtc catcttctct gtgattgttg tgtggtcaga gtgcacattc tttagcacta
     1621 ctcctgtctt atccctcttt gcggtcttca tacagctggc agaaaaaaca tataattata
     1681 tttatatcga gattgcctgc ttcctttcca tcttcttcct aagtatctgt gtttattcta
     1741 ctgtgttcag gattcgtgta tttaactatt attatttggc ctcacatcac cagactgatg
     1801 cttatagcct tcttttcagt ggcatgctat tttgccgttt gacacctcct ttatgtctta
     1861 atttcttggg tttgacccat atggattcat ctatctctca caagaatact caaccaactg
     1921 cttatacatc tattatgggt tccatgaaag ttttatcctt tattgcagat ggattctata
     1981 tatattatcc tatgttggtg gtaattctct gcattgctac ttattttagt ttgggaaccc
     2041 gttgtttgaa tctgctcggt ttccagcagt ttatgggaga tgatgatatg acatcagact
     2101 tagttaatga aggaaaagaa ttaatcagaa aagagaagag aaaaaggcaa aggcaagaag
     2161 aaggtgaaaa tcgaagaaga gaatggaaag aacgttatgg acacaataga gaagattcca
     2221 ctaggaacag aaatattcat actgacccca aagagtcaaa cttctcagat gttaatacca
     2281 accgttctgc attcaaatat accagggcta ataacaggac tgaaagggac cggatagaac
     2341 ttctccaaga tgcagaacct ttggatttta atgcagaaac attcactgat gatcctcttg
     2401 aatctgaatc aggaaggtat cagcctggtg gacgatatct ctcgatgtct cgcagtgaca
     2461 tatttaatga tgtttaaagt ctgaaaaagt ttgtgggacc actaaccaag gtcaacacat
     2521 cagttcagtc ttgatgaaca tctgtgtacc ctagaatttc ctctatacac agtgaaaagt
     2581 gtcaagataa caaaaaaggc actgagaatt aattatatct taggaataat agtttaatgt
     2641 gcattgaata gagtatcacc tttttcaaca agatttatta catatcattt cctaagcatc
     2701 tgccttagaa atacagttac agtggaagga ctttaagaaa gatcaacata tgttaagaac
     2761 atgcagttca gtttgtttca gattaatttt ttttcaagag agttatttta aagattcaag
     2821 gaagccataa gtcatactaa ataatattat atacagtttt gttattgtga cttacatttt
     2881 tgttacttct aaaaagtata ttcaacctgt atttcccaaa gaaatgtaag tgaatggaga
     2941 cctcaaataa taactgtatt cataaaactc gtgtcttaaa acaaggctta cttactagac
     3001 ataactgaat gtaaaaagtg ctttttcaaa tctgtttgca aactcgtggg ggatttttgc
     3061 atgtataaga ttaagattat acttcaagtg atgcgtgtct gtgtatttag catgtgtact
     3121 ataatcaggt gatatagtat tccttcagtc tttgtagtaa ctggattttt ttatgcttct
     3181 ggtattgctt tataaaagat tttcatttca gaaagctatg ttcacattta tcatttaaca
     3241 tattgattta aatgttgatt atgatattca aggataaatc ctaggcatta atgaaaaata
     3301 gttttttttt aagtagtcaa agagtccaac aaaatccttc agtatttaaa ggtacctgct
     3361 tatacttttt gagaaaaaaa ctggttattc aaaggtaaaa agtgaatcca tttactgtta
     3421 ttactgatac ttaaatcgtg gtttatagaa aacaaaacta tattagaatg gaaatgtgta
     3481 ataacttgtt ggttaaacat tcttactaaa tagactgttt ttaacctttg tgtttaagat
     3541 aaatttatgt attatatttt aaagcactag tgttttattg aaaagtgaac atgtttgatt
     3601 gcagcatgct tgcagagagt tttcttatgt ccctagaata tttgcaactc ttactgaatc
     3661 catgctacat ttggtgacca tacttcagct tgcctaatac agtctcagtg taacacctag
     3721 tatcctgttt attactagtg attactttca ccctcaagta tcccacccag tttgaagatg
     3781 aattatatgg ttcccctaac ttgaagttaa tctttcccca agacataaat ttaaaatttt
     3841 tatttttatt tttaataaat attatcatgt aagttttttt ttaaaacaca gctctatgca
     3901 gatattgaaa ggaatagagc atcatcctca ttatctgaaa attttgatct ttgagttttt
     3961 atgatctttg caattagatc ccttttaaaa taattatcag tggatagact tactctgaat
     4021 tgaaggtcat atagactaca cttaagaaca cacacataca gtcttttcat gtgaagtgtg
     4081 gccagaaagc aataagccag gagcagagat aatttgatcc tctttgtaat ttaatgattg
     4141 actaattgaa tacctttggc aaatcatgta gctcttcagt gcctcaagtg cttcattctg
     4201 cactttcatt tgcagaatga agatgatact tgctatttac ctgctgatct accttacaaa
     4261 gccattgtga ggaagttgaa ttggtgttta tgtactggag tttataactg tgctattttt
     4321 cctagtgata cttgaaggta ttggatgggg aaatgatcat cccagaaatg ggtccagttt
     4381 cttattatta cagaaaagtt tacaagtact taaagcaaaa acgcttttgg actaattcat
     4441 caaaagtcct gtgaaagtag tgttgtttta tttagtcttt gggtttactt tggaataatt
     4501 tcttaagtat aatgtttctc atcaggtttt gtcatgaaat taagatgctg ttgttgaaac
     4561 agaagcagaa aaggaaaaga aattagccaa ttacttttat aactaacttt tataatgccc
     4621 taagataaat tggtaggaac gtgtaaggta atgttaccac tttcctttag tattaaattt
     4681 tttatggtta taataattga agtgtatacg tgcatacact tcacaaccgg tatagattcc
     4741 tttatgactt tcaagttata tttaaaatat ttggttgttt cagtgattca gaatattcaa
     4801 ctttaagcag aatttgtctt acagaatgtt atatacaatc atataaaaat gttattttgt
     4861 tggataaatt tgagttcaga aggcaatgac ttgaccctgg aagactcagt ttattgctgg
     4921 ggaaccaagt taatatttgt caagccaccc tgtgtaaaaa actgtaatgg gtagaagttt
     4981 tctcttttga gaagcttatt gaaatataat gacatctact gcaaaatagg actactaaat
     5041 acatatactt tacatgcaaa gtacatttct taaagaatta tttctggtaa tttttgatga
     5101 ctttattact tgataataag tattagttta aaattttcca aattattctt taaatagttg
     5161 ttaggtaaga atattcagta agccagtaat tcagaataac tattgtagaa aataataata
     5221 atctattaat ttaatgaatc acctctaaat tactaattaa cttcttttac aacataaata
     5281 acttgttatc aatagagcat ttttgtaaaa aacaaaagaa agaataagtt taattattaa
     5341 aatttgctct cttaccaaat gaatacaagg gcttttgaat aatctcattg cataagaggc
     5401 cctcatttca cagaaatggt aagaactaaa tcaaaagatt caagggtttt ccctttataa
     5461 agaatagatc agaaaatttg acaatccaga cattcaaaaa aacattctgc cagttgattt
     5521 ttttggacta ctatttgatt agatgatcag ttctgaaatt taagctgcat gtatgcccaa
     5581 attaaattag cataggaaag tcaatgtgtg tggtttttta aaagtatatt ttagcatatt
     5641 aatggagcaa tttaatttac attcagttac aaacctcatt cttattaata ggtttaggga
     5701 atgttcttgc tggtgtgctg attaccatat tagagaaaaa ataaactctc catattataa
     5761 ttcacctgtt tagtaaggtg agtttcttac ttgtgatttg agtggattat gcctaaaaat
     5821 tacaagtata tttgcactaa gcgacaaaat atgtccctga aaaatcttag cgtacttgaa
     5881 tcatcaaatg taatggattg tattgaattc taaatgttaa gaagtaagtg gatttagggt
     5941 tttgtctttc ttttcttatg tcctctctca ttcctttata cctttcttcc tttctgaggc
     6001 ctatgtttat agcatgactt ttaatgtgct gaaagatttt ccttctgttt tgtgtacaga
     6061 gttgtttttg atgagtggta cgctcagaag gaactagttc tgactacaaa tcccactact
     6121 tgaaatagca atattgtacc taaagtagtc aaacagattt tgctagacaa ctaagcaaca
     6181 tctgaataca aatgtaaagt atgctggctc agtgtatctt ttaggtcact aaagaggaca
     6241 catcagtaaa taaattgttt tcagtgtaat atttttacat aaaaatagat ttccccccca
     6301 aaatttaaga tttatttaga ttcttgagac atctttttat gaaaaggaat taataacata
     6361 catcatcaaa acttttctta ggagcgttga aacaatataa gaaggttaca gaaggccttc
     6421 taaaatatga attcccatct gtatgaggta cttctttcca actcagtgac tttttgccca
     6481 gagacttgga agactgggca atgttttctt tcccctttcc caactcctgg agacaaggcc
     6541 ctaggagcaa tttcctccag tagggcaggc cgtagtcctg ctctgtctta cttcccactg
     6601 cagcaggaac atgtcctcgc ctctgattcc ttctgtacca agccattggt ccattgaggt
     6661 caattgagga ctcactgtaa attttaaatc tgttaataaa gcaaggatat tggcatgttc
     6721 ctcttctcat caatatccta aaagacattt attttttaca cactccttgg gaaaaattaa
     6781 ctttttttca ctgaaaatat ttcctttttt ggttatcttg atctcagatt attttgtgaa
     6841 agaattttac tgtacttagt tcaaaagagt agaaagaatg atttactatt gcagacatat
     6901 gtagggtaaa atcataattt atttaaactg actgtacaac accatttaga gttgatattg
     6961 acataaatgt tattagccta ctaatttgga actgcatttc tcaacaatgc tggcaagcat
     7021 cttccgtact tagcatacca agttgtaggg gagagactgt gtatatattt tttaaaagca
     7081 atccaatgga tttgtttttg ttcatatttt gaaaacaact cgaaggattt ttcttatttt
     7141 agaaggtaga aaatatgtgg acctgtgttt taaattaata tgtatttata aattataaca
     7201 ttgaatgata caacagagct ctaatattga tgttctcact ttctgatatt taatttttat
     7261 aaatgttttt gtaagtaact aattgtagta ttgcttttaa atagttttaa aatctatctc
     7321 aaataagttc tgcccagacc tatttcctta ggacagtatt ctaaagttca gtagtccagt
     7381 gtgagcttga aatactccta gatcccgtca gtgattttta tatataccaa tacacaagca
     7441 aattattaat ataccaaaaa cctaatttct gcattgcatt aataaaatac ttgttatttt
     7501 gcctttatcc aattcagttg attaggtgaa atagaaaatt aatcttttca aatgtgcata
     7561 tgatcataat ttttcaaaat gttactgtgg tcatttttgg tgcatgatgc caagtttatc
     7621 tttagttagc cattgccacc tgatatgtaa tgacaaatgt tttactatct gatcattggg
     7681 ttgtagatta aactattttt tttctctgta gattctcact acattttcaa atatgtactt
     7741 ggaaaaagct gcaaagtgct acctataagc aaattagtaa ctttggcctt atctatgcat
     7801 agtgttcgct cagtttggtt ttgataaatt gattgacttg cagttccttt gtagtatttt
     7861 aacttattgt gatgtaatga attttttgaa atgtttattt gattagctgt taaaatatag
     7921 gaaagaatgt agctttgcat gaaataaatt acatttctac aagttaataa gaattttgct
     7981 gattgtttat atattttact tcatttgaga ttaaggttct tttaagtaga ttcaggcgtt
     8041 ctttgttcct tatcaattta ttagcaaata tgacaaatgt tttaaaataa atatgtgtac
     8101 tttagttttc acatta
//
LOCUS       NM_001007530             779 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens CMT1A duplicated region transcript 15 (CDRT15),
            transcript variant 1, mRNA.
ACCESSION   NM_001007530
VERSION     NM_001007530.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 779)
  AUTHORS   Yu T, Zhang T, Zhao L, Li K, Li J and Yu A.
  TITLE     Bioinformatic analysis the expression and clinical significance of
            CDRT15 in cholangiocarcinoma using TCGA database
  JOURNAL   Medicine (Baltimore) 102 (31), e34602 (2023)
   PUBMED   37543771
  REMARK    GeneRIF: Bioinformatic analysis the expression and clinical
            significance of CDRT15 in cholangiocarcinoma using TCGA database.
REFERENCE   2  (bases 1 to 779)
  AUTHORS   Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman
            DW, Lupski JR and Birren B.
  TITLE     The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals
            unique genome architectural features and provides insights into the
            recent evolution of new genes
  JOURNAL   Genome Res 11 (6), 1018-1033 (2001)
   PUBMED   11381029
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AW183187.1, AA854007.1 [ECO:0000332]
            RNAseq introns :: partial sample support SAMEA1968968, SAMEA2148093
            [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000420162.7/ ENSP00000402355.3
            RefSeq Select criteria :: based on manual assertion, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC071823.1, AC005224.1, BC146859.1, HY197844.1 and AA854007.1.
            On Dec 4, 2019 this sequence version replaced NM_001007530.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..779
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p12"
     gene            1..779
                     /gene="CDRT15"
                     /note="CMT1A duplicated region transcript 15"
                     /db_xref="GeneID:146822"
                     /db_xref="HGNC:HGNC:14395"
     CDS             30..596
                     /gene="CDRT15"
                     /note="isoform 1 is encoded by transcript variant 1; CMT1A
                     duplicated region transcript 15 protein"
                     /codon_start=1
                     /product="CMT1A duplicated region transcript 15 protein
                     isoform 1"
                     /protein_id="NP_001007531.1"
                     /db_xref="CCDS:CCDS32569.1"
                     /db_xref="GeneID:146822"
                     /db_xref="HGNC:HGNC:14395"
                     /translation="MFSCCFPTSRGCCFRNGGSESLFRRCRRRLIPHPRRLSPVVIRRI
                     QVPQDSLGQALAGQATPEIPLGLQLHTVLVQEIQELIEAQTLAPGPCAEVRALPAPAAE
                     PEPAWEEAPPERALELEGAPAKDQTNEELPEITEVPESIKRRLGRRVPAATPAPRGNLL
                     LQAWMRVHSWASRLFAPNVLPGTGP"
ORIGIN
        1 acttggtggg agtcgctcaa gagagcaaga tgttctcgtg ttgcttcccc acttcgagag
       61 gttgctgctt caggaatgga gggagtgaga gccttttccg acgatgccga agaaggctca
      121 tccctcaccc cagacgcctg tcgcccgttg taataaggcg catccaggta ccacaggaca
      181 gcctggggca ggccctagca ggccaggcca caccagagat cccattgggg ctgcagctgc
      241 acactgtcct tgtccaggag attcaggagc tcattgaggc acagacactt gctcctggtc
      301 catgtgcaga agtaagagca ctgccagcac cagcggcgga gccagagcca gcatgggaag
      361 aggcccctcc agagagagca ctggagctgg agggagctcc agccaaggac cagaccaacg
      421 aggagctgcc tgaaatcacg gaggtgccgg agagcattaa aagaaggctg ggaagaagag
      481 ttccagcagc tacgcctgct cccagaggca acctcctcct ccaggcatgg atgcgggtcc
      541 acagctgggc atccaggctg tttgccccta atgtgctgcc cgggacaggc ccttaacagg
      601 cgggcagtgg gtgaggggac caggaggtgg ctccaaaggg taaagcaaac aaagctttta
      661 acgacagccg ttgtgcccca ggctctccat gccaccacct gccctaccat ttattaatag
      721 tgttagaatt acaagttgat gaaacgagat tacaataaag tttgatttct gaaacttca
//
LOCUS       NM_001007531            1662 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens NFKB activating protein like (NKAPL), mRNA.
ACCESSION   NM_001007531
VERSION     NM_001007531.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1662)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1662)
  AUTHORS   Wu S, Teng MS, Er LK, Hsiao WY, Hsu LA, Yeh CH, Lin JF, Lin YY, Su
            CW and Ko YL.
  TITLE     Association between NF-kappaB Pathway Gene Variants and sICAM1
            Levels in Taiwanese
  JOURNAL   PLoS One 12 (1), e0169516 (2017)
   PUBMED   28095483
  REMARK    GeneRIF: Single nucleotide polymorphism in NKAPL is associated with
            atherosclerosis. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1662)
  AUTHORS   Wang Z, Yang B, Liu Y, Shugart YY, Cheng Z, Jin C, Yuan J, Zhu W,
            Wang G and Zhang F.
  TITLE     Further evidence supporting the association of NKAPL with
            schizophrenia
  JOURNAL   Neurosci Lett 605, 49-52 (2015)
   PUBMED   26297123
  REMARK    GeneRIF: further evidence for the involvement of NKAPL polymorphisms
            in the development of schizophrenia.
REFERENCE   4  (bases 1 to 1662)
  AUTHORS   Okuda H, Kiuchi H, Takao T, Miyagawa Y, Tsujimura A, Nonomura N,
            Miyata H, Okabe M, Ikawa M, Kawakami Y, Goshima N, Wada M and Tanaka
            H.
  TITLE     A novel transcriptional factor Nkapl is a germ cell-specific
            suppressor of Notch signaling and is indispensable for
            spermatogenesis
  JOURNAL   PLoS One 10 (4), e0124293 (2015)
   PUBMED   25875095
  REMARK    GeneRIF: Overexpression of NKAPL in germline stem cells demonstrated
            that Nkapl induced changes in spermatogonial stem cell (SSC) markers
            and the reduction of differentiation factors through the Notch
            signaling pathway. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1662)
  AUTHORS   Chen SF, Chao YL, Shen YC, Chen CH and Weng CF.
  TITLE     Resequencing and association study of the NFKB activating
            protein-like gene (NKAPL) in schizophrenia
  JOURNAL   Schizophr Res 157 (1-3), 169-174 (2014)
   PUBMED   24972756
  REMARK    GeneRIF: Study suggested that rs1635 in the NKAPL gene appeared to
            play a role in conferring susceptibility to schizophrenia
REFERENCE   6  (bases 1 to 1662)
  AUTHORS   Xie G, Lu Y, Sun Y, Zhang SS, Keystone EC, Gregersen PK, Plenge RM,
            Amos CI and Siminovitch KA.
  TITLE     Identification of the NF-kappaB activating protein-like locus as a
            risk locus for rheumatoid arthritis
  JOURNAL   Ann Rheum Dis 72 (7), 1249-1254 (2013)
   PUBMED   23223422
  REMARK    GeneRIF: Fine-mapping analyses identified six NKAPL locus variants
            in a single haplotype block showing association with rheumatoid
            arthritis.
REFERENCE   7  (bases 1 to 1662)
  AUTHORS   Yue WH, Wang HF, Sun LD, Tang FL, Liu ZH, Zhang HX, Li WQ, Zhang YL,
            Zhang Y, Ma CC, Du B, Wang LF, Ren YQ, Yang YF, Hu XF, Wang Y, Deng
            W, Tan LW, Tan YL, Chen Q, Xu GM, Yang GG, Zuo XB, Yan H, Ruan YY,
            Lu TL, Han X, Ma XH, Wang Y, Cai LW, Jin C, Zhang HY, Yan J, Mi WF,
            Yin XY, Ma WB, Liu Q, Kang L, Sun W, Pan CY, Shuang M, Yang FD, Wang
            CY, Yang JL, Li KQ, Ma X, Li LJ, Yu X, Li QZ, Huang X, Lv LX, Li T,
            Zhao GP, Huang W, Zhang XJ and Zhang D.
  TITLE     Genome-wide association study identifies a susceptibility locus for
            schizophrenia in Han Chinese at 11p11.2
  JOURNAL   Nat Genet 43 (12), 1228-1231 (2011)
   PUBMED   22037552
  REMARK    GeneRIF: Genome-wide association study identifies a susceptibility
            locus for schizophrenia in Han Chinese at 11p11.2. Publication
            Status: Online-Only
REFERENCE   8  (bases 1 to 1662)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC038240.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000343684.4/ ENSP00000345716.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB471905.1, BC101681.1, AI240405.1 and BC038240.1.
            On May 17, 2019 this sequence version replaced NM_001007531.2.
FEATURES             Location/Qualifiers
     source          1..1662
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     gene            1..1662
                     /gene="NKAPL"
                     /gene_synonym="bA424I5.1; C6orf194"
                     /note="NFKB activating protein like"
                     /db_xref="GeneID:222698"
                     /db_xref="HGNC:HGNC:21584"
     misc_feature    46..48
                     /gene="NKAPL"
                     /gene_synonym="bA424I5.1; C6orf194"
                     /note="upstream in-frame stop codon"
     CDS             76..1284
                     /gene="NKAPL"
                     /gene_synonym="bA424I5.1; C6orf194"
                     /codon_start=1
                     /product="NKAP-like protein"
                     /protein_id="NP_001007532.1"
                     /db_xref="CCDS:CCDS34353.1"
                     /db_xref="GeneID:222698"
                     /db_xref="HGNC:HGNC:21584"
                     /translation="MPPVSRSSYSEDIVGSRRRRRSSSGSPPSPQSRCSSWDGCSRSHS
                     RGREGLRPPWSELDVGALYPFSRSGSRGRLPRFRNYAFASSWSTSYSGYRYHRHCYAEE
                     RQSAEDYEKEESHRQRRLKERERIGELGAPEVWGPSPKFPQLDSDEHTPVEDEEEVTHQ
                     KSSSSDSNSEEHRKKKTSRSRNKKKRKNKSSKRKHRKYSDSDSNSESDTNSDSDDDKKR
                     VKAKKKKKKKKHKTKKKKNKKTKKESSDSSCKDSEEDLSEATWMEQPNVADTMDLIGPE
                     APIIHTSQDEKPLKYGHALLPGEGAAMAEYVKAGKRIPRRGEIGLTSEEIGSFECSGYV
                     MSGSRHRRMEAVRLRKENQIYSADEKRALASFNQEERRKRESKILASFREMVHKKTKEK
                     DDK"
     misc_feature    76..243
                     /gene="NKAPL"
                     /gene_synonym="bA424I5.1; C6orf194"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5M9Q1.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    142..144
                     /gene="NKAPL"
                     /gene_synonym="bA424I5.1; C6orf194"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5SZT7; propagated from
                     UniProtKB/Swiss-Prot (Q5M9Q1.3); phosphorylation site"
     misc_feature    388..945
                     /gene="NKAPL"
                     /gene_synonym="bA424I5.1; C6orf194"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5M9Q1.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    517..519
                     /gene="NKAPL"
                     /gene_synonym="bA424I5.1; C6orf194"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5SZT7; propagated from
                     UniProtKB/Swiss-Prot (Q5M9Q1.3); phosphorylation site"
     regulatory      1629..1634
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NKAPL"
                     /gene_synonym="bA424I5.1; C6orf194"
                     /note="hexamer: ATTAAA"
     regulatory      1639..1644
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NKAPL"
                     /gene_synonym="bA424I5.1; C6orf194"
                     /note="hexamer: ATTAAA"
     polyA_site      1649
                     /gene="NKAPL"
                     /gene_synonym="bA424I5.1; C6orf194"
     polyA_site      1662
                     /gene="NKAPL"
                     /gene_synonym="bA424I5.1; C6orf194"
                     /note="major polyA site"
ORIGIN
        1 agtgcgcctg cgtggccgcg aatcaccagc cagcctctgg gtctgtagca accgcccagc
       61 gttgaggcgc ggctcatgcc cccagtatcc cggtccagct attccgagga catcgtgggc
      121 tctcggagaa ggcgacgcag ctcctcgggg agcccaccat ccccgcagag cagatgttcc
      181 tcttgggatg gctgttcccg ctctcactcc cgcggccgtg agggcctcag gcctccttgg
      241 agtgagttgg acgtgggcgc tctttacccc tttagtcgct ctgggtcgcg agggcggctc
      301 ccaagattcc gcaactacgc cttcgcgtcc tcctggtcga cctcgtatag tggatatcgc
      361 taccatcgtc actgctatgc agaagaacgg cagtcagcgg aagactacga gaaggaagag
      421 agccatcggc agaggaggct gaaggagaga gagaggattg gggaattggg agcgcctgaa
      481 gtgtgggggc cgtctccaaa gttccctcag ctagattctg acgaacatac cccagttgag
      541 gatgaagaag aggtaacgca tcagaaaagc agcagttcag attccaactc ggaagaacat
      601 aggaaaaaga agaccagtcg ttcaagaaac aagaaaaaaa gaaagaataa gtcgtctaaa
      661 agaaagcata ggaaatattc tgatagtgac agtaactcag agtctgacac aaattctgac
      721 tctgatgatg ataaaaagag agttaaagcc aagaagaaaa agaagaaaaa gaaacacaaa
      781 acaaagaaaa agaagaataa gaaaaccaaa aaagaatcca gtgactcaag ctgtaaagac
      841 tcagaagagg acttgtcaga agctacctgg atggagcagc caaatgtggc agatactatg
      901 gatttaatag ggccagaagc acctataata catacctctc aagatgaaaa acctttgaag
      961 tatggccatg ctttgcttcc cggtgaaggt gcagctatgg ctgagtatgt aaaagctgga
     1021 aagcgaatcc cacgaagagg tgaaattggg ttgacaagtg aagagatcgg ttcttttgaa
     1081 tgctcaggtt atgtcatgag tggtagcagg catcgcagaa tggaggctgt acgactgcgt
     1141 aaggagaacc agatctacag tgctgatgag aagagagctc ttgcatcctt taaccaagaa
     1201 gagagacgaa agagagaaag taagatttta gccagtttcc gagagatggt gcacaaaaag
     1261 acaaaagaga aagatgacaa gtaaggactt acttgttgca cagcaggaat tttaacaaca
     1321 aaaattttat gtgaccaaaa gtgttaaaag gctttacagt gctactgtac ttaccatatt
     1381 agtaagtccc tcaggaaaaa gcttcttttg agatatcttt agcagcttat tttttgttat
     1441 tttaacttta aaaagtaata tgtgcacatg gttttaaaaa tattcaacca ttataggagg
     1501 agagttagta aaaagtgaat ctttcacttt agcccctgac acctttcccc caaaaatata
     1561 tattttggtg tcttatatac agaatataca ttctgtgcat atacaagagt atatgttgca
     1621 gcataaagat taaaagctat taaagttttt tttcgctcgt ta
//
LOCUS       NM_001007532             445 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens saitohin (STH), mRNA.
ACCESSION   NM_001007532
VERSION     NM_001007532.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 445)
  AUTHORS   Bonyadi M, Ahmadieh H, Jabbarpoor Bonyadi MH, Shahpasand K, Suri F,
            Nasrabadi N, Yaseri M, Kheiri B and Soheilian M.
  TITLE     Association of Saitohin gene rs62063857 polymorphism with dry type
            age-related macular degeneration
  JOURNAL   Ophthalmic Genet 41 (5), 505-506 (2020)
   PUBMED   32615840
  REMARK    GeneRIF: Association of Saitohin gene rs62063857 polymorphism with
            dry type age-related macular degeneration.
REFERENCE   2  (bases 1 to 445)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 445)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 445)
  AUTHORS   Huang R, Tian S, Cai R, Sun J, Xia W, Dong X, Shen Y and Wang S.
  TITLE     Saitohin Q7R polymorphism is associated with late-onset Alzheimer's
            disease susceptibility among caucasian populations: a meta-analysis
  JOURNAL   J Cell Mol Med 21 (8), 1448-1456 (2017)
   PUBMED   28211174
  REMARK    GeneRIF: Saitohin Q7R polymorphism is associated with late-onset
            Alzheimer's disease susceptibility among caucasian populations.
            (Meta-analysis)
REFERENCE   5  (bases 1 to 445)
  AUTHORS   Lu SS, Gong FF, Feng F, Hu CY, Qian ZZ, Wu YL, Yang HY and Sun YH.
  TITLE     Association of microtubule associated protein tau/Saitohin
            (MAPT/STH) MAPT_238bp/STH Q7R polymorphisms and Parkinson's disease:
            A meta-analysis
  JOURNAL   Biochem Biophys Res Commun 453 (3), 653-661 (2014)
   PUBMED   25305495
  REMARK    GeneRIF: results of this meta-analysis suggested that MAPT_238bp/STH
            Q7R polymorphisms might modulate the risk of Parkinson's disease
            susceptibility
REFERENCE   6  (bases 1 to 445)
  AUTHORS   Zekanowski C, Peplonska B, Styczynska M, Gustaw K, Kuznicki J and
            Barcikowska M.
  TITLE     Mutation screening of the MAPT and STH genes in Polish patients with
            clinically diagnosed frontotemporal dementia
  JOURNAL   Dement Geriatr Cogn Disord 16 (3), 126-131 (2003)
   PUBMED   12826737
  REMARK    GeneRIF: At the STH gene only a common polymorphic change was found.
REFERENCE   7  (bases 1 to 445)
  AUTHORS   Verpillat P, Ricard S, Hannequin D, Dubois B, Bou J, Camuzat A,
            Pradier L, Frebourg T, Brice A, Clerget-Darpoux F, Deleuze JF and
            Campion D.
  CONSRTM   French Study Group on Alzheimer's Disease and Frontotemporal
            Dementia
  TITLE     Is the saitohin gene involved in neurodegenerative diseases?
  JOURNAL   Ann Neurol 52 (6), 829-832 (2002)
   PUBMED   12447938
  REMARK    GeneRIF: The saitohin Q allele, a novel determinant of tau H1
            haplotypes, may represent a causative factor involved in the
            determinism of several tauopathies, e.g., frontotemporal dementia.
REFERENCE   8  (bases 1 to 445)
  AUTHORS   Cook,L., Brayne,C.E., Easton,D., Evans,J.G., Xuereb,J., Cairns,N.J.
            and Rubinsztein,D.C.
  TITLE     No evidence for an association between Saitohin Q7R polymorphism and
            Alzheimer's disease
  JOURNAL   Ann Neurol 52 (5), 690-691 (2002)
   PUBMED   12402275
REFERENCE   9  (bases 1 to 445)
  AUTHORS   Conrad C, Vianna C, Freeman M and Davies P.
  TITLE     A polymorphic gene nested within an intron of the tau gene:
            implications for Alzheimer's disease
  JOURNAL   Proc Natl Acad Sci U S A 99 (11), 7751-7756 (2002)
   PUBMED   12032355
  REMARK    GeneRIF: a gene within an intron of the tau gene; Q7R polymorphism
            appears to be over-represented in the homozygous state in late onset
            Alzheimer's disease subjects
REFERENCE   10  (bases 1 to 445)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH,
            Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC130321.1, AY179170.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000537309.1/ ENSP00000443168.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CR936218.6.
            On May 17, 2019 this sequence version replaced NM_001007532.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..445
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..445
                     /gene="STH"
                     /gene_synonym="MAPTIT"
                     /note="saitohin"
                     /db_xref="GeneID:246744"
                     /db_xref="HGNC:HGNC:18839"
                     /db_xref="MIM:607067"
     CDS             31..417
                     /gene="STH"
                     /gene_synonym="MAPTIT"
                     /note="microtubule-associated protein tau (MAPT) intronic
                     transcript"
                     /codon_start=1
                     /product="saitohin"
                     /protein_id="NP_001007533.1"
                     /db_xref="CCDS:CCDS54136.1"
                     /db_xref="GeneID:246744"
                     /db_xref="HGNC:HGNC:18839"
                     /db_xref="MIM:607067"
                     /translation="MSEGGGQVSCIFAAPTRLCRWPALIECGVNLTQPLCEWMIQVARD
                     RTLSLAWEVASLLTLSSSEVGLEGVGTIWPSSYSSEESSRNGAEQGRQLSIEGPFQGQN
                     CPSHPAAALPLPMRGESQATSCQV"
     misc_feature    259..414
                     /gene="STH"
                     /gene_synonym="MAPTIT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWL8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 gcatgtgtct gctgctccct agtctgggcc atgagtgagg gtggaggcca agtctcatgc
       61 atttttgcag cccccacaag actgtgcagg tggccggccc tcattgaatg cggggttaat
      121 ttaactcagc ctctgtgtga gtggatgatt caggttgcca gagacagaac cctcagctta
      181 gcatgggaag tagcttccct gttgaccctg agttcatctg aggttggctt ggaaggtgtg
      241 ggcaccattt ggcccagttc ttacagctct gaagagagca gcaggaatgg ggctgagcag
      301 ggaagacaac tttccattga aggccccttt cagggccaga actgtccctc ccaccctgca
      361 gctgccctgc ctctgcccat gaggggtgag agtcaggcga cctcatgcca agtgtagaaa
      421 ggggcagatg ggagccccag gttat
//
LOCUS       NM_001007533             799 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens protein phosphatase 1 regulatory subunit 27 (PPP1R27),
            mRNA.
ACCESSION   NM_001007533
VERSION     NM_001007533.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 799)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 799)
  AUTHORS   Hendrickx A, Beullens M, Ceulemans H, Den Abt T, Van Eynde A,
            Nicolaescu E, Lesage B and Bollen M.
  TITLE     Docking motif-guided mapping of the interactome of protein
            phosphatase-1
  JOURNAL   Chem Biol 16 (4), 365-371 (2009)
   PUBMED   19389623
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF434846.1, ERR279839.5022.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145893,
            SAMEA2147596 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000330261.5/ ENSP00000331065.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA894509.1, BC112094.1, BI826571.1 and AA722724.1.
            On Nov 22, 2018 this sequence version replaced NM_001007533.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..799
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..799
                     /gene="PPP1R27"
                     /gene_synonym="DYSFIP1"
                     /note="protein phosphatase 1 regulatory subunit 27"
                     /db_xref="GeneID:116729"
                     /db_xref="HGNC:HGNC:16813"
     CDS             98..562
                     /gene="PPP1R27"
                     /gene_synonym="DYSFIP1"
                     /note="dysferlin-interacting protein 1 (toonin); dysferlin
                     interacting protein 1"
                     /codon_start=1
                     /product="protein phosphatase 1 regulatory subunit 27"
                     /protein_id="NP_001007534.1"
                     /db_xref="CCDS:CCDS32767.1"
                     /db_xref="GeneID:116729"
                     /db_xref="HGNC:HGNC:16813"
                     /translation="MPSRTARYARYSPRQRRRRMLADRSVRFPNDVLFLDHIRQGDLEQ
                     VGRFIRTRKVSLATIHPSGLAALHEAVLSGNLECVKLLVKYGADIHQRDEAGWTPLHIA
                     CSDGYPDIARYLISLGADRDATNDDGDLPSDLIDPDYKELVELFKGTTMD"
     misc_feature    284..373
                     /gene="PPP1R27"
                     /gene_synonym="DYSFIP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WC6.1);
                     Region: ANK 1"
     misc_feature    383..472
                     /gene="PPP1R27"
                     /gene_synonym="DYSFIP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WC6.1);
                     Region: ANK 2"
     regulatory      754..759
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP1R27"
                     /gene_synonym="DYSFIP1"
                     /note="hexamer: AATAAA"
     polyA_site      799
                     /gene="PPP1R27"
                     /gene_synonym="DYSFIP1"
                     /note="major polyA site"
ORIGIN
        1 cgacaggagc cctcaagctg atctggtcgg gaccggatac attattaacc ccagtgcagt
       61 agggtcccca ggggcaacct gccccacagc gcccaagatg cctagcagaa ctgcccgcta
      121 tgcccgctac agcccacggc agcggcggcg gcggatgctg gctgatcgca gcgtgcgttt
      181 ccctaatgat gtcctgttct tggaccacat ccggcagggt gacctggagc aggtggggcg
      241 cttcatccgg actcggaaag tctccctggc caccatccac ccctcaggcc tggccgcctt
      301 gcatgaagcc gtgctctctg gaaacctgga atgcgtgaag ctgctggtca aatacggggc
      361 tgacattcac cagcgagatg aggcgggctg gacacccctg cacattgcct gcagcgatgg
      421 gtaccctgac atagccaggt accttatctc cctgggagcg gacagggatg caaccaacga
      481 cgatggcgac ctgccctccg acctcatcga cccggactac aaggagctgg tggagctctt
      541 caaagggacc acgatggact gagccagctt tgcccgcccg cccccgcgcc cagggccgcc
      601 tccctggaga agccgcgcgt cgcccatggg ccagcacgtg ccccacccgt gggccagggg
      661 cggccggacc cgtccctcca cgaccccgcc acccctccta ggcctggctt tgtccccagg
      721 tgaatttttt actgtgacac tttttacttt ttcaataaac gtgactccca ggtgaggggg
      781 cctgggtcta cacacgtgg
//
LOCUS       NM_001007534            1740 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens PRR23 family member E (PRR23E), mRNA.
ACCESSION   NM_001007534
VERSION     NM_001007534.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1740)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1740)
  AUTHORS   Xie T, Deng L, Mei P, Zhou Y, Wang B, Zhang J, Lin J, Wei Y, Zhang X
            and Xu R.
  TITLE     Genome-wide association study combining pathway analysis for typical
            sporadic amyotrophic lateral sclerosis in Chinese Han populations
  JOURNAL   Neurobiol Aging 35 (7), 1778 (2014)
   PUBMED   24529757
REFERENCE   3  (bases 1 to 1740)
  AUTHORS   Chung,S., Low,S.K., Zembutsu,H., Takahashi,A., Kubo,M., Sasa,M. and
            Nakamura,Y.
  TITLE     A genome-wide association study of chemotherapy-induced alopecia in
            breast cancer patients
  JOURNAL   Breast Cancer Res 15 (5), R81 (2013)
   PUBMED   24025145
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK097460.1, BC137154.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000624688.2/ ENSP00000493276.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC112482.4.
            On Jun 12, 2013 this sequence version replaced NM_001007534.1.
            Sequence Note: The RefSeq transcript was derived from the reference
            genome assembly. The genomic coordinates were determined from
            transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1740
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.3"
     gene            1..1740
                     /gene="PRR23E"
                     /gene_synonym="C3orf56"
                     /note="PRR23 family member E"
                     /db_xref="GeneID:285311"
                     /db_xref="HGNC:HGNC:32481"
     misc_feature    130..132
                     /gene="PRR23E"
                     /gene_synonym="C3orf56"
                     /note="upstream in-frame stop codon"
     CDS             241..969
                     /gene="PRR23E"
                     /gene_synonym="C3orf56"
                     /codon_start=1
                     /product="proline-rich protein 23E"
                     /protein_id="NP_001007535.1"
                     /db_xref="GeneID:285311"
                     /db_xref="HGNC:HGNC:32481"
                     /translation="MGTGASEKQAEQKVRRAFEASEEAHGTLAASTPWVAMGSAYGSCT
                     CLGAQPVTDLALWPVIYSCMGFSPQAYPAFWAYPWVLYGGYLWMGYPPPAALVPSVWLY
                     WRGASSFDPLIGSPYLAALAPNLFPFPMKFPPTYSLASPTLGGATSSHCPQVGCWTPAS
                     SAPRAAVEGPSRGAPYLKTCKAPPSEWASRFGIWAPLPCCSSELRPLPPSPIEDSQLDP
                     GCSRSSSRSPCRARRRLFEC"
     misc_feature    877..942
                     /gene="PRR23E"
                     /gene_synonym="C3orf56"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N813.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1718..1723
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRR23E"
                     /gene_synonym="C3orf56"
                     /note="hexamer: AATAAA"
     polyA_site      1740
                     /gene="PRR23E"
                     /gene_synonym="C3orf56"
                     /note="major polyA site"
ORIGIN
        1 agtggtctcc tgccgccacc tggaccgggg acagtaacgc ctagggagcc ccaagacctc
       61 ttgagagagc atttcagctc tgttgacaaa cctcaaccac ttgagggact tcgctggaaa
      121 gaaacgttct agaaagacca agtggatacc aggagccccg tgaggtgcgt gtggcctcag
      181 cttgcagagg agtgcacttg ccagacactt cggggctttg aagagcacag ctcatctaag
      241 atgggcacag gtgcatcaga gaaacaagca gagcagaagg tccgccgtgc cttcgaggcc
      301 tccgaggaag cccacgggac tctggcagcc tcaaccccct gggtggccat gggctctgcc
      361 tatggttcct gtacctgctt gggagcccag cctgtaactg acctggccct ctggcctgtc
      421 atctactcct gcatgggatt ttccccacaa gcttacccag ccttctgggc ttacccgtgg
      481 gtgctctatg gtgggtatct ctggatgggt tatccccctc cagctgcctt ggtgccttca
      541 gtgtggctgt attggagggg cgcctccagc tttgaccccc tcataggaag tccgtatctg
      601 gctgccttgg cccccaacct atttcctttc cccatgaaat tcccacccac ctactccttg
      661 gcttctccca ctctgggcgg ggccacctcc agccactgtc cccaggtggg atgctggact
      721 ccagccagct cagcccccag ggctgccgta gaggggccat ccagaggagc tccctacttg
      781 aagacatgca aagcccctcc ctcagaatgg gcctccaggt tcggtatttg ggcacctttg
      841 ccctgctgca gttcagagct ccgccctctg cccccttccc ccattgaaga ttctcagctg
      901 gacccgggct gctcccgctc ctcctcccgg tcaccctgca gggcccgccg ccgcctcttt
      961 gagtgctaat cagccctcta gacccagacc cacccaacaa tcagagacat gtctggtgga
     1021 gcccagccag ctgtggactt taagtttttg gaagagtctc agatgtaggt tgtttactat
     1081 tcttcagtac agagtacacc tcctggactc atgcaaggcc cctctatttg ctatttctct
     1141 ttactttgtt tttctgtttg cccttcaacc ctgatactgg caccttttct cctccccaga
     1201 ctgtcctggg cccgccctct agtagatttg ctgtgagtcc tcaaacatgc atgcatgcaa
     1261 ccttgtaaaa tgagcttatt taagctcaat ccaacctgta gaagcgctca gttagaatag
     1321 gcctccaggt ttggtatttg ggcacctgtg ccaccctcca gcccaggact ctctctgccc
     1381 ctcctcagca aagaccctca gcaggatccc cgcatccctg gccaccctgt ggggcctgct
     1441 gctgtctctt ccagcattgg tgtgtcctcc agggaaccac acactcaagc actttggaac
     1501 ccatggaatc cagtgagcac gtgctgtggg ctctgcctag aagcttccaa aacctgtttg
     1561 ttccagtgga cacagagtag gaaatgctga ctcgttcaga gcgctagtgc ccttgggtcc
     1621 ttgcgggtgt gctcttctca ctcctcaccc catcagcacc ttctggggta atgcacacac
     1681 cagtaaaatg tacagtgcat gcttttaaaa atttttaaat aaatgatact atgctataaa
//
LOCUS       NM_001007537            1402 bp    mRNA    linear   PRI 18-JUL-2023
DEFINITION  Homo sapiens C1q and TNF related 9B (C1QTNF9B), transcript variant
            1, mRNA.
ACCESSION   NM_001007537
VERSION     NM_001007537.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1402)
  AUTHORS   Dong F, Jiang M, Zhang Z, Li F and Lian Y.
  TITLE     C1q/TNF-related protein-9 suppresses inflammation in synovial cells
            from patients with osteoarthritis
  JOURNAL   Scand J Rheumatol 51 (5), 368-373 (2022)
   PUBMED   34514937
  REMARK    GeneRIF: C1q/TNF-related protein-9 suppresses inflammation in
            synovial cells from patients with osteoarthritis.
REFERENCE   2  (bases 1 to 1402)
  AUTHORS   Li Z, Du Y, Jia L, Fan J, Guo R, Ma X, Wang X, Nie S and Wei Y.
  TITLE     Association of C1q/TNF-Related Protein-9 (CTRP9) Level with
            Obstructive Sleep Apnea in Patients with Coronary Artery Disease
  JOURNAL   Mediators Inflamm 2020, 7281391 (2020)
   PUBMED   32831639
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1402)
  AUTHORS   Du Y, Zhang S, Yu H, Wu Y, Cao N, Wang W, Xu W, Li Y and Liu H.
  TITLE     Autoantibodies Against beta1-Adrenoceptor Exaggerated Ventricular
            Remodeling by Inhibiting CTRP9 Expression
  JOURNAL   J Am Heart Assoc 8 (4), e010475 (2019)
   PUBMED   30764693
REFERENCE   4  (bases 1 to 1402)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 1402)
  AUTHORS   Shi Y, Qu J, Zhang D, Zhao P, Zhang Q, Tam POS, Sun L, Zuo X, Zhou
            X, Xiao X, Hu J, Li Y, Cai L, Liu X, Lu F, Liao S, Chen B, He F,
            Gong B, Lin H, Ma S, Cheng J, Zhang J, Chen Y, Zhao F, Yang X, Chen
            Y, Yang C, Lam DSC, Li X, Shi F, Wu Z, Lin Y, Yang J, Li S, Ren Y,
            Xue A, Fan Y, Li D, Pang CP, Zhang X and Yang Z.
  TITLE     Genetic variants at 13q12.12 are associated with high myopia in the
            Han Chinese population
  JOURNAL   Am J Hum Genet 88 (6), 805-813 (2011)
   PUBMED   21640322
REFERENCE   6  (bases 1 to 1402)
  AUTHORS   Peterson JM, Wei Z and Wong GW.
  TITLE     CTRP8 and CTRP9B are novel proteins that hetero-oligomerize with
            C1q/TNF family members
  JOURNAL   Biochem Biophys Res Commun 388 (2), 360-365 (2009)
   PUBMED   19666007
  REMARK    GeneRIF: two novel human C1q/TNF family members, designated as CTRP8
            and CTRP9B were described.
REFERENCE   7  (bases 1 to 1402)
  AUTHORS   Ghai R, Waters P, Roumenina LT, Gadjeva M, Kojouharova MS, Reid KB,
            Sim RB and Kishore U.
  TITLE     C1q and its growing family
  JOURNAL   Immunobiology 212 (4-5), 253-266 (2007)
   PUBMED   17544811
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: EL734395.1 [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA2147596,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL445985.10.
            On Mar 1, 2023 this sequence version replaced NM_001007537.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the protein.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1402
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.12"
     gene            1..1402
                     /gene="C1QTNF9B"
                     /gene_synonym="CTRP9B"
                     /note="C1q and TNF related 9B"
                     /db_xref="GeneID:387911"
                     /db_xref="HGNC:HGNC:34072"
                     /db_xref="MIM:614148"
     misc_feature    205..207
                     /gene="C1QTNF9B"
                     /gene_synonym="CTRP9B"
                     /note="upstream in-frame stop codon"
     CDS             211..1212
                     /gene="C1QTNF9B"
                     /gene_synonym="CTRP9B"
                     /note="collagen triple helix repeat-containing;
                     C1q/TNF-related protein 9B; complement C1q and tumor
                     necrosis factor-related protein 9B; C1q and tumor necrosis
                     factor related protein 9B"
                     /codon_start=1
                     /product="complement C1q and tumor necrosis factor-related
                     protein 9B precursor"
                     /protein_id="NP_001007538.1"
                     /db_xref="CCDS:CCDS31947.1"
                     /db_xref="GeneID:387911"
                     /db_xref="HGNC:HGNC:34072"
                     /db_xref="MIM:614148"
                     /translation="MRIWWLLLAIEICTGNINSQDTCRQGHPGIPGNPGHNGLPGRDGR
                     DGAKGDKGDAGEPGCPGSPGKDGTSGEKGERGADGKVEAKGIKGDQGSRGSPGKHGPKG
                     LAGPMGEKGLRGETGPQGQKGNKGDVGPTGPEGPRGNIGPLGPTGLPGPMGPIGKPGPK
                     GEAGPTGPQGEPGVRGIRGWKGDRGEKGKIGETLVLPKSAFTVGLTVLSKFPSSDVPIK
                     FDKILYNEFNHYDTAVGKFTCHIAGVYYFTYHITVFSRNVQVSLVKNGVKILHTRDAYV
                     SSEDQASGSIVLQLKLGDEMWLQVTGGERFNGLFADEDDDTTFTGFLLFSSQ"
     sig_peptide     211..267
                     /gene="C1QTNF9B"
                     /gene_synonym="CTRP9B"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     268..1209
                     /gene="C1QTNF9B"
                     /gene_synonym="CTRP9B"
                     /product="Complement C1q and tumor necrosis factor-related
                     protein 9B. /id=PRO_0000348424"
                     /note="propagated from UniProtKB/Swiss-Prot (B2RNN3.1)"
     misc_feature    280..777
                     /gene="C1QTNF9B"
                     /gene_synonym="CTRP9B"
                     /note="propagated from UniProtKB/Swiss-Prot (B2RNN3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 caactacgaa catggacatc tgttctagtc cttgctttca attattttgt gtagatgcac
       61 agcagtggaa ttgctggatc agatgcttga agagtggttc caatcacaag tgttaccttc
      121 caaggacaat gtcatcctgg taataaccag cttgctcccc tgccctgagt cttctgccaa
      181 gtctgtccag ttcagtctgt catctgaacc atgaggatct ggtggcttct gcttgccatt
      241 gaaatctgca cagggaacat aaactcacag gacacctgca ggcaagggca ccctggaatc
      301 cctgggaacc ccggtcacaa tggtctgcct ggaagagatg gacgagacgg agcgaagggt
      361 gacaaaggcg atgcaggaga accaggatgt cctggcagcc cggggaagga tgggacgagt
      421 ggagagaagg gagaacgagg agcagatgga aaagttgaag caaaaggcat caaaggtgat
      481 caaggctcaa gaggatcccc aggaaaacat ggccccaagg ggcttgcagg gcccatggga
      541 gagaaaggcc tccgaggaga gactgggcct caggggcaga aggggaataa gggtgacgtg
      601 ggtcccactg gtcctgaggg gccaaggggc aacattgggc ctttgggccc aactggttta
      661 ccgggcccca tgggccctat tggaaagcct ggtcccaagg gagaagctgg acccacgggg
      721 ccccagggtg agccaggagt ccggggaata agaggctgga aaggagatcg aggagagaaa
      781 gggaaaatcg gtgagactct agtcttgcca aaaagtgctt tcactgtggg gctcacggtg
      841 ctgagcaagt ttccttcttc agatgtgccc attaaatttg ataagatcct gtataatgaa
      901 ttcaaccatt atgatacagc agtggggaaa ttcacgtgcc acattgctgg ggtctattac
      961 ttcacctacc acatcactgt tttctccagg aatgttcagg tgtctttggt caaaaacgga
     1021 gtaaaaatac tgcacaccag agatgcttac gtgagctctg aggaccaggc ctctggcagc
     1081 attgtcctgc agctgaagct cggggatgag atgtggctgc aggtgacagg aggagagagg
     1141 ttcaatggct tgtttgctga tgaggacgat gacacaactt tcacagggtt ccttctgttc
     1201 agcagccagt gacagaggag agtttataaa tctgccagac catccatcag aatcagcttg
     1261 ggatgaactt attcagatgg ttttacttta ttaattcctc caattattac aataatcata
     1321 aaaaggtgaa aacggaaaag ttattcccaa aactgattct atgtaactta ctatttttcc
     1381 aggagtaaat atttaaaata gc
//
LOCUS       NM_001007538            3845 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens shisa family member 2 (SHISA2), mRNA.
ACCESSION   NM_001007538
VERSION     NM_001007538.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3845)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3845)
  AUTHORS   Furushima K, Yamamoto A, Nagano T, Shibata M, Miyachi H, Abe T,
            Ohshima N, Kiyonari H and Aizawa S.
  TITLE     Mouse homologues of Shisa antagonistic to Wnt and Fgf signalings
  JOURNAL   Dev Biol 306 (2), 480-492 (2007)
   PUBMED   17481602
REFERENCE   3  (bases 1 to 3845)
  AUTHORS   Zhang Z and Henzel WJ.
  TITLE     Signal peptide prediction based on analysis of experimentally
            verified cleavage sites
  JOURNAL   Protein Sci 13 (10), 2819-2824 (2004)
   PUBMED   15340161
REFERENCE   4  (bases 1 to 3845)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1078198.1,
            SRR14038197.277066.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000319420.4/ ENSP00000313079.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL139004.11.
            On Dec 3, 2019 this sequence version replaced NM_001007538.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3845
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.13"
     gene            1..3845
                     /gene="SHISA2"
                     /gene_synonym="bA398O19.2; C13orf13; hShisa; PRO28631;
                     TMEM46; WGAR9166"
                     /note="shisa family member 2"
                     /db_xref="GeneID:387914"
                     /db_xref="HGNC:HGNC:20366"
                     /db_xref="MIM:617324"
     misc_feature    952..954
                     /gene="SHISA2"
                     /gene_synonym="bA398O19.2; C13orf13; hShisa; PRO28631;
                     TMEM46; WGAR9166"
                     /note="upstream in-frame stop codon"
     CDS             1042..1929
                     /gene="SHISA2"
                     /gene_synonym="bA398O19.2; C13orf13; hShisa; PRO28631;
                     TMEM46; WGAR9166"
                     /note="transmembrane protein 46; protein shisa-2 homolog;
                     shisa homolog 2"
                     /codon_start=1
                     /product="protein shisa-2 homolog precursor"
                     /protein_id="NP_001007539.1"
                     /db_xref="CCDS:CCDS31951.1"
                     /db_xref="GeneID:387914"
                     /db_xref="HGNC:HGNC:20366"
                     /db_xref="MIM:617324"
                     /translation="MWGARRSSVSSSWNAASLLQLLLAALLAAGARASGEYCHGWLDAQ
                     GVWRIGFQCPERFDGGDATICCGSCALRYCCSSAEARLDQGGCDNDRQQGAGEPGRADK
                     DGPDGSAVPIYVPFLIVGSVFVAFIILGSLVAACCCRCLRPKQDPQQSRAPGGNRLMET
                     IPMIPSASTSRGSSSRQSSTAASSSSSANSGARAPPTRSQTNCCLPEGTMNNVYVNMPT
                     NFSVLNCQQATQIVPHQGQYLHPPYVGYTVQHDSVPMTAVPPFMDGLQPGYRQIQSPFP
                     HTNSEQKMYPAVTV"
     sig_peptide     1042..1140
                     /gene="SHISA2"
                     /gene_synonym="bA398O19.2; C13orf13; hShisa; PRO28631;
                     TMEM46; WGAR9166"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     1141..1926
                     /gene="SHISA2"
                     /gene_synonym="bA398O19.2; C13orf13; hShisa; PRO28631;
                     TMEM46; WGAR9166"
                     /product="Protein shisa-2 homolog. /id=PRO_0000022615"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWI4.1)"
     misc_feature    1300..1365
                     /gene="SHISA2"
                     /gene_synonym="bA398O19.2; C13orf13; hShisa; PRO28631;
                     TMEM46; WGAR9166"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWI4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1372..1434
                     /gene="SHISA2"
                     /gene_synonym="bA398O19.2; C13orf13; hShisa; PRO28631;
                     TMEM46; WGAR9166"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWI4.1);
                     transmembrane region"
     misc_feature    1543..1656
                     /gene="SHISA2"
                     /gene_synonym="bA398O19.2; C13orf13; hShisa; PRO28631;
                     TMEM46; WGAR9166"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWI4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3824..3829
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHISA2"
                     /gene_synonym="bA398O19.2; C13orf13; hShisa; PRO28631;
                     TMEM46; WGAR9166"
                     /note="hexamer: AATAAA"
     polyA_site      3845
                     /gene="SHISA2"
                     /gene_synonym="bA398O19.2; C13orf13; hShisa; PRO28631;
                     TMEM46; WGAR9166"
                     /note="major polyA site"
ORIGIN
        1 ggagtcggag ctggtctggc gccgggcggg gcgaggcgag gctgtgggcg gctgctgcgc
       61 tcggcttctc ccgtagcccg gaggaaagaa acttccgtgg gaggcttcca tcggtgcgca
      121 cacctcccga gggcgaggca gcgaccggga gagggagagc cggccggagg ctgccgggct
      181 cctgtgggac cgcgctgcag ccggggaggc ggagaagggg aaccggggcg agccgcccgc
      241 ctggatccgc gcccagcagc agccgcggcc gccgccagct gggcaggctc ccgggactgc
      301 ggctgggggc gcgcaggacc ctcgcctgcg tcctggacgt tcccggggtc aggagcgctc
      361 cctcggcgac gtgctgggaa gattggccgt cggccccgcc gagtggagcg tcggggctgc
      421 acccccgtgg gctgcccggg cggcccggcc ggagccatgc ggaccaagtt cggggcagag
      481 gaggctgagc gcggccggct gcgtcacttg ctgcccagag ccttgcgtgc actgcccgcc
      541 ttcgcccctt ctacccgccc gaggagggaa taaaggaggg gagacgggcc ctgattcgcg
      601 cgcgggaccc tgaggcttaa accctgcgca gagccctggc tccaggtccg cggcggcgcg
      661 cccagcggtc attcggctcg agtgagcatc ccttcgggga tgctcaggga gggtccggtt
      721 gccagtgaaa cctccagagg cttccggacg acagccccgg gggccttctg actgcatccc
      781 gagatttcca tcagcgagtg caactcataa ggcagtccct aaggggaccg ggccaccggc
      841 tgaggacggg gatggcttag gagctcctgg acctagggcc cggcgtcgtc gcctcctggg
      901 cgtcgcggca gaggggagtg gcccgcgcgg aaagcgccgc gggacagtca gtgacgaggc
      961 ccgggggtcg ccggggccac gacttctcgg agaccgtcct gcgctctctg gagacgcgct
     1021 gtccgcgccc agggtggtgc catgtggggc gctcgccgct cgtccgtctc ctcatcctgg
     1081 aacgccgctt cgctcctgca gctgctgctg gctgcgctgc tggcggcggg ggcgagggcc
     1141 agcggcgagt actgccacgg ctggctggac gcgcagggcg tctggcgcat cggcttccag
     1201 tgtcccgagc gcttcgacgg cggcgacgcc accatctgct gcggcagctg cgcgttgcgc
     1261 tactgctgct ccagcgccga ggcgcgcctg gaccagggcg gctgcgacaa tgaccgccag
     1321 cagggcgctg gcgagcctgg ccgggcggac aaagacggcc ccgacggctc ggcagtgccc
     1381 atctacgtgc cgttcctcat tgttggctcc gtgtttgtcg cctttatcat cttggggtcc
     1441 ctggtggcag cctgttgctg cagatgtctc cggcctaagc aggatcccca gcagagccga
     1501 gccccagggg gtaaccgctt gatggagacc atccccatga tccccagtgc cagcacctcc
     1561 cgggggtcgt cctcacgcca gtccagcaca gctgccagtt ccagctccag cgccaactca
     1621 ggggcccggg cgcccccaac aaggtcacag accaactgtt gcttgccgga agggaccatg
     1681 aacaacgtgt atgtcaacat gcccacgaat ttctctgtgc tgaactgtca gcaggccacc
     1741 cagattgtgc cacatcaagg gcagtatctg catcccccat acgtggggta cacggtgcag
     1801 cacgactctg tgcccatgac agctgtgcca cctttcatgg acggcctgca gcctggctac
     1861 aggcagattc agtccccctt ccctcacacc aacagtgaac agaagatgta cccagcggtg
     1921 actgtataac cgagagtcac tggtgggttc ctttactgaa gggagacgaa ggcaggggtg
     1981 gattctcgag gtggaagtcc gcacatgtcg gtggtattta tggcacgatt cctttggatg
     2041 gcttcatttg cccccagact gtatgaaaac atctccgaat tagcatttct ggatatgttt
     2101 catccagggt atcattgatt tatgatggaa aaccggcctc agctggagat gactgtgatg
     2161 ttgctgatgg gtgtataaca aatgcttgag tccgaagtgc ccttgagata tggttgacga
     2221 aagaatttta taaactgata aattaaggat ttttattatg ttgttattat tatttctttt
     2281 ttgttgttga ctgcacagga tcaaaatgcc tgttatctcc cttttacctg ggactttttt
     2341 tttttttttt ttttttttta atcagacagg gtcttgctct gttgcccagg ctggagtgca
     2401 gtggtgcgat ctcggctcac tgcaacttca gcctcctgga ttcaggcaac actcctgcct
     2461 cagcctccca cgtggctggg attacaggtg cctgccccca tggctaattt tttgtatttt
     2521 ttgtagagat ggggtttcac catgttggct gggctggtct cactctcctg acctcaagca
     2581 atctgcctgt ctcagcctcc caaagtgctg ggattacagg cgtgagccac cgcccccagc
     2641 ctgagccttt ttttttttct aatgcatcca aggttaaggg gaagacgcaa ataacaggac
     2701 tattctaaaa ggaaacctgt ttgaactctg tgagatcagt catcagtctc agtattccac
     2761 aggcacacct taatttcatt gtaaaaagat atatatattt tgtctatttt tgtgcttttg
     2821 ggggcctatt ttgtgctttt ttaccttatg tagagatctt attacaaagt gattttctac
     2881 attaaaaaga gactgaaata aattgtatag ttacttaact aatgaagaca tttcagaact
     2941 ctgggatgat tttaatcttg aagtagtagg tggtatagtc ataaaaccat tcatcccctt
     3001 cttgattgta tcttaatttt ctggctttaa ggtgacatct gagaggtaat gcattctttt
     3061 ttatattgaa atcataaact atcacccgct gcttctctga gttactttta attttgcctt
     3121 gtggttatgg tttggcgttt ccttctgttt ggttttcaga gccccatgtc tatatagtcc
     3181 tgagtgcaag taattactat acttgtaaat gaagatcagt atttctgcct agatctgata
     3241 aaaaaatttt cttgtcttag ttataaaaat tcaaagaaat gtgttacaaa gatacttagt
     3301 atagctcctc agccataacc tgagacttgg gatgaaattt aaaccagata cgatttactt
     3361 tgcagatcat aaggcttttt atactcttgt tatcaaaatg gcttattttt caggcactaa
     3421 ggattgttaa gagaaaagct tttcaacgaa ggattgcctt tcttctccca cactgttctt
     3481 gatttcctct ctctttcagg cctcaacagg cactgtattc attgccaatg ttccaaatta
     3541 tcaaattcaa gtgaatttat ttgtgtgttc tttacttata taaaaaaaga taactttaag
     3601 gatgtgcaag tacatttcca actgctagca caaccagtat tttgtaatta aacaaatcgc
     3661 tgtatggtat ggtcttctac acatttatgt ctatagatat ctatcgatca tctttctatt
     3721 ctgtttcatg actgaataat gtaaaaccag tgttggcaat tggtatcatc aatgatactc
     3781 attttttaat aaccaaaggc aggggaaaat cattttactt attaataaat attttatgat
     3841 gtgaa
//
LOCUS       NM_001007540            2528 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens cadherin related family member 4 (CDHR4), mRNA.
ACCESSION   NM_001007540
VERSION     NM_001007540.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2528)
  AUTHORS   Morgan AR, Han DY, Lam WJ, Fraser AG and Ferguson LR.
  TITLE     Association analysis of 3p21 with Crohn's disease in a New Zealand
            population
  JOURNAL   Hum Immunol 71 (6), 602-609 (2010)
   PUBMED   20307617
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 2528)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC146674.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000412678.7/ ENSP00000391409.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC139451.7, AY358221.1, BC146674.1 and DR008129.1.
            On Nov 22, 2018 this sequence version replaced NM_001007540.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2528
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..2528
                     /gene="CDHR4"
                     /gene_synonym="CDH29; PRO34300"
                     /note="cadherin related family member 4"
                     /db_xref="GeneID:389118"
                     /db_xref="HGNC:HGNC:34527"
     misc_feature    26..28
                     /gene="CDHR4"
                     /gene_synonym="CDH29; PRO34300"
                     /note="upstream in-frame stop codon"
     CDS             62..2428
                     /gene="CDHR4"
                     /gene_synonym="CDH29; PRO34300"
                     /note="cadherin-like 29; cadherin-like protein 29;
                     Cadherin-like protein UNQ9392/PRO34300; VLLR9392"
                     /codon_start=1
                     /product="cadherin-related family member 4 precursor"
                     /protein_id="NP_001007541.2"
                     /db_xref="CCDS:CCDS46829.1"
                     /db_xref="GeneID:389118"
                     /db_xref="HGNC:HGNC:34527"
                     /translation="MVLLRLLVFLFAPVVSDLCSLPCFINVSESQGPGTVLQFLSFNCS
                     SYTPTPTLELLNVQPPTTFFNPPSLARWQGTYVGKLTLSSSAQLDALMVNHYKVQLKFT
                     CGNHVMEGSLSVDVQRDLSHIQCAGQFASPAGEMIQVPETVTPGARLYTLLLPGLELHG
                     AQMSIISAQDLPHFPGPFSINEQGWLQAPSQGLLGQAQKVFQLQISVSFGQRQSCQGMV
                     IVKVLPVPSSQVSFLEQAQNITIPENLAPGSEVVQVQARGVDLRYEILSPVPSPLFSIG
                     RADGVVRTTTPLELARTSGTAVSRLQVKAFEQGQLWASAKLNLTMNVQLVNLWPPRCLP
                     ALLVSQIPETAPVGTVLNTLTCEDPDSVGATLDYKLWFRSSSNPASLCLYDRVLEVNAT
                     LDCDTPGACFQHAASILVLDGGQPQMTTEVPVLVMVTPINEFSPACAPRTFRVQEDAAP
                     HTLLGSVVGTDMDYPHDNIEYYTSGGPTTFAVDRLSGEVHLLGPLDYEQQRLYRLTVLV
                     IDHGQDQNPNHHLSGSCTITIEVEDVNDHAPECEPPFQELTIYAPLGRSVEVTKMSCQI
                     PQEPQRLIYSYSIVGGNSQNRFILQGAILVHSDLVLGPFWPEQPRTYELLICVADAGPS
                     TPHLSTTATIIVHLVPRRASTVATSTHRTTVPSTMTPMLVTDTEAFWQPQPWFVVVLTA
                     TGALLLLALGWLLGRLLQGLAQLLQAPSKPAQALLLNSIQGTEGSIEGFLEAPKMEMSQ
                     APSSVMSLHFDGRAQDSRTGRDYLFNTHTGARRWL"
     sig_peptide     62..109
                     /gene="CDHR4"
                     /gene_synonym="CDH29; PRO34300"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    785..787
                     /gene="CDHR4"
                     /gene_synonym="CDH29; PRO34300"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6H8M9.1); glycosylation site"
     misc_feature    2120..2182
                     /gene="CDHR4"
                     /gene_synonym="CDH29; PRO34300"
                     /note="propagated from UniProtKB/Swiss-Prot (A6H8M9.1);
                     transmembrane region"
     regulatory      2508..2513
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDHR4"
                     /gene_synonym="CDH29; PRO34300"
                     /note="hexamer: AACAAA"
     polyA_site      2528
                     /gene="CDHR4"
                     /gene_synonym="CDH29; PRO34300"
                     /note="major polyA site"
ORIGIN
        1 gagtcagaca aacagcctag ctttctgaag cctcctctgc tgtctgtgtc ttcaggtcat
       61 catggtgctg ctcaggctcc tcgtgttcct ctttgctccg gtggtctctg acctctgcag
      121 cctgccctgc tttataaatg tctctgagag ccagggccct ggcacagtcc ttcagttttt
      181 atccttcaac tgctcctcct acacgcccac acccaccctg gagttgctca atgtccagcc
      241 acccaccacc ttcttcaacc cacccagctt ggccaggtgg caagggacct atgtgggcaa
      301 gttgaccttg agcagctctg ctcagttgga tgccctgatg gtgaaccact acaaggtgca
      361 gctgaagttc acatgtggca accatgtgat ggagggctca ctctctgtgg atgtgcagcg
      421 ggaccttagc catatccagt gtgctggtca atttgccagc ccagctgggg aaatgattca
      481 ggtgccagag acagtcacac ctggggctcg gctgtacact ctgctcctcc caggcctaga
      541 actccacgga gcgcagatga gcattatcag tgcccaggac ctgccacact tccctggacc
      601 tttctccatc aatgagcaag gttggctgca ggcaccatcc cagggcctcc taggccaggc
      661 tcaaaaggtc ttccagctgc aaatctcagt gtcctttgga caaaggcaaa gctgccaagg
      721 gatggtgata gtgaaggttt tgcctgttcc ctccagccag gtctccttcc tcgagcaggc
      781 tcagaatatc accatccctg agaatctggc ccccggtagt gaggtggttc aggtccaggc
      841 ccggggtgtc gacctgcgct atgaaatcct gtctccggtg cccagcccac tcttctccat
      901 tggtcgtgca gacggtgtgg tccggaccac cacgccccta gagttagctc gcacctcagg
      961 caccgcggtc tccaggctgc aggtgaaggc ctttgagcag ggccagctgt gggccagtgc
     1021 caagctcaat ctcaccatga atgtgcagct ggtcaacctc tggcctccac gctgcctccc
     1081 agcgcttctg gtgtcccaaa tcccggagac tgcacccgtg ggcaccgtgc tgaatactct
     1141 cacttgcgaa gatccggact ctgttggtgc caccctggac tacaagctgt ggttccgcag
     1201 ctcttccaac cctgccagcc tctgccttta tgacagagtc cttgaggtga atgccacact
     1261 ggactgtgac actcctggag cctgcttcca gcatgcagcc tccatcctgg tgctcgatgg
     1321 tggccagccc cagatgacca ctgaggtgcc ggtactggtg atggtgacac ccatcaacga
     1381 gttctcccca gcctgtgccc ctcgcacgtt ccgggttcag gaggatgcgg cgccccacac
     1441 tctactgggc tccgtggtgg gcacggatat ggattaccct catgacaaca ttgagtacta
     1501 cacctctggt ggtcctacca cctttgctgt ggaccgtctc agcggggaag ttcacctcct
     1561 gggacctttg gactatgagc agcagaggct gtacaggctc actgtccttg tgattgacca
     1621 tggccaagac cagaacccca accatcacct ctcaggctcc tgtaccatta ccatcgaggt
     1681 tgaggatgtg aatgaccatg cccccgagtg tgagccccca tttcaggaac tcaccatcta
     1741 tgctcctctg ggccgtagcg tggaggtgac caagatgtca tgccagatcc ctcaggagcc
     1801 acagcgcctg atctactcct atagcatcgt gggagggaat agccagaacc gattcatcct
     1861 gcaaggggcc atcctggtgc acagtgacct tgtgttgggg ccgttctggc cagagcagcc
     1921 ccgtacctat gagctactga tctgtgtggc cgatgcaggc ccctccaccc cccacctcag
     1981 caccacagcc accattattg tgcatctagt tccccggagg gccagcacag tggccaccag
     2041 cacccacaga accacagtgc cctcaacgat gacacccatg ctcgtgacag acacagaggc
     2101 tttctggcag ccacagccct ggtttgtggt ggtgttgaca gcaactggtg ctcttctcct
     2161 cttggcccta ggctggcttc ttggcaggct cctccagggg ttggcccagc tgctgcaagc
     2221 acccagcaaa ccagcccagg ctttgctgct aaacagcatc cagggaactg agggatccat
     2281 cgagggtttc ctggaggcac cgaagatgga gatgtcccag gcacccagca gtgtcatgag
     2341 tctgcatttt gatggcagag cacaggactc ccgtaccgga agagactacc tgtttaacac
     2401 acacacagga gcccggcgct ggctctgagg ccaagtagct gtcttactat gtgtggaatt
     2461 tctttttcac accatcatgg gctgtatttt caagttgatt cataataaac aaaattacaa
     2521 aaagaaaa
//
LOCUS       NM_001007544            1205 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens regulator of hemoglobinization and erythroid cell
            expansion (RHEX), transcript variant 1, mRNA.
ACCESSION   NM_001007544
VERSION     NM_001007544.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1205)
  AUTHORS   Franke K, Bal G, Li Z, Zuberbier T and Babina M.
  TITLE     Clorfl86/RHEX Is a Negative Regulator of SCF/KIT Signaling in Human
            Skin Mast Cells
  JOURNAL   Cells 12 (9), 1306 (2023)
   PUBMED   37174705
  REMARK    GeneRIF: Clorfl86/RHEX Is a Negative Regulator of SCF/KIT Signaling
            in Human Skin Mast Cells. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1205)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1205)
  AUTHORS   Verma R, Su S, McCrann DJ, Green JM, Leu K, Young PR, Schatz PJ,
            Silva JC, Stokes MP and Wojchowski DM.
  TITLE     RHEX, a novel regulator of human erythroid progenitor cell expansion
            and erythroblast development
  JOURNAL   J Exp Med 211 (9), 1715-1722 (2014)
   PUBMED   25092874
  REMARK    GeneRIF: RHEX(C1orf186) comprises a new EPO/EPOR target and
            regulator of erythroid cell expansion that additionally acts to
            support late-stage erythroblast development Erratum:[J Exp Med. 2015
            Jun 1;212(6):971. PMID: 25941257]
COMMENT     ##Evidence-Data-START##
            CDS exon combination :: BC071785.1, SRR5189667.201948.1
            [ECO:0000331]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331555.10/ ENSP00000356093.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC071785.1, AK122631.1 and AI683243.1.
            On Nov 22, 2018 this sequence version replaced NM_001007544.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1205
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..1205
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /note="regulator of hemoglobinization and erythroid cell
                     expansion"
                     /db_xref="GeneID:440712"
                     /db_xref="HGNC:HGNC:25341"
                     /db_xref="MIM:616088"
     misc_feature    85..87
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /note="upstream in-frame stop codon"
     CDS             190..708
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /note="uncharacterized protein C1orf186; regulator of human
                     erythroid cell expansion protein"
                     /codon_start=1
                     /product="regulator of hemoglobinization and erythroid cell
                     expansion protein"
                     /protein_id="NP_001007545.1"
                     /db_xref="CCDS:CCDS73014.1"
                     /db_xref="GeneID:440712"
                     /db_xref="HGNC:HGNC:25341"
                     /db_xref="MIM:616088"
                     /translation="MLTEVMEVWHGLVIAVVSLFLQACFLTAINYLLSRHMAHKSEQIL
                     KAASLQVPRPSPGHHHPPAVKEMKETQTERDIPMSDSLYRHDSDTPSDSLDSSCSSPPA
                     CQATEDVDYTQVVFSDPGELKNDSPLDYENIKEITDYVNVNPERHKPSFWYFVNPALSE
                     PAEYDQVAM"
     misc_feature    214..276
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZWK4.1);
                     transmembrane region"
     misc_feature    343..507
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZWK4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    583..585
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:25092874; propagated from
                     UniProtKB/Swiss-Prot (Q6ZWK4.1); phosphorylation site"
     misc_feature    610..612
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:25092874; propagated from
                     UniProtKB/Swiss-Prot (Q6ZWK4.1); phosphorylation site"
     regulatory      1184..1189
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /note="hexamer: AATAAA"
     polyA_site      1205
                     /gene="RHEX"
                     /gene_synonym="C1orf186"
                     /note="major polyA site"
ORIGIN
        1 agagcagcgt gtagcagttc cctgtggagg attaacacag tggctgaaca ccgggaagga
       61 actggcactt ggagtccgga catctgaaac ttgatctcca gcaccctgcc ggtggcacta
      121 ctgagagacg aggtgccagg gtggttcctg aaagtgcctg agccccaact tatcagcaag
      181 gagctcatca tgctgacaga agtcatggag gtctggcatg gcttagtgat cgcggtggtg
      241 tccctcttcc tgcaggcctg cttcctcacc gccatcaact acctgctcag caggcacatg
      301 gcccacaaga gtgaacagat actgaaagcg gccagtctcc aggttcccag gcccagccct
      361 ggccaccatc atccacctgc tgtcaaagag atgaaggaga ctcagacaga gagagacatc
      421 ccaatgtctg attcccttta caggcatgac agcgacacac cctcagatag cttggatagc
      481 tcctgcagtt cgcctcctgc ctgccaggcc acagaggatg tggattacac acaagtcgtc
      541 ttttctgacc ctggagaact aaaaaatgac tccccgctgg actatgagaa cataaaggaa
      601 atcacagatt atgtcaatgt caatccagaa agacacaagc ccagtttctg gtattttgtc
      661 aaccctgctc tgtctgagcc agcggaatat gatcaagtgg ccatgtgaat tccaaatatt
      721 tttaatgggg tccagttctc tatggattct tacatttaat ttgtagggaa atgccatttt
      781 tcccccttaa acaaggcatg gggctcacaa gtctatggag acaggccaaa aagaatgtgg
      841 agaagaaaac tgataaatac acagaggtcc tcaagaccca tggactcctg gtctgtaccc
      901 aaaaaagctg ttcgttcctc aaaaacaaaa acaaggcttg gctgggaaaa caggccaatg
      961 ccccggcaag aaaggttgag atcagatgtt aggaagaact ttcaggtaaa gtatgagaac
     1021 tatggagtcc atcagcagag atagtagtga agtctctccc cagggaaaat tttaaaaagg
     1081 ttgaatcagc tgttgtagag ttctatttgg caatctcatg gttaaatgac ttccctttga
     1141 gctctttaat tattggcaat aaacaacttc tttaaaagtt ttaaataaaa tagcaaccac
     1201 cacca
//
LOCUS       NM_001007551            2627 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens cancer/testis antigen family 45 member A5 (CT45A5),
            transcript variant 1, mRNA.
ACCESSION   NM_001007551
VERSION     NM_001007551.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2627)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   2  (bases 1 to 2627)
  AUTHORS   Chen YT, Scanlan MJ, Venditti CA, Chua R, Theiler G, Stevenson BJ,
            Iseli C, Gure AO, Vasicek T, Strausberg RL, Jongeneel CV, Old LJ and
            Simpson AJ.
  TITLE     Identification of cancer/testis-antigen genes by massively parallel
            signature sequencing
  JOURNAL   Proc Natl Acad Sci U S A 102 (22), 7940-7945 (2005)
   PUBMED   15905330
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853561.29837.1, BC028711.2
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2151119
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000698999.1/ ENSP00000514077.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC240441.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 9, 2021 this sequence version replaced NM_001007551.5.
            Summary: This gene represents one of a cluster of several similar
            genes located on the q arm of chromosome X. The genes in this
            cluster encode members of the cancer/testis (CT) family of
            antigens, and are distinct from other CT antigens. These antigens
            are thought to be novel therapeutic targets for human cancers.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Apr 2014].
            Transcript Variant: This variant (1) represents the shorter
            transcript. Both variants 1 and 2 encode the same protein.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2627
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     gene            1..2627
                     /gene="CT45A5"
                     /gene_synonym="CT45-3; CT45-4; CT45-6; CT45.5; CT455;
                     CT45A3; CT45A4; CT45A6; CT45A7"
                     /note="cancer/testis antigen family 45 member A5"
                     /db_xref="GeneID:441521"
                     /db_xref="HGNC:HGNC:33270"
                     /db_xref="MIM:300796"
     misc_feature    151..153
                     /gene="CT45A5"
                     /gene_synonym="CT45-3; CT45-4; CT45-6; CT45.5; CT455;
                     CT45A3; CT45A4; CT45A6; CT45A7"
                     /note="upstream in-frame stop codon"
     CDS             274..843
                     /gene="CT45A5"
                     /gene_synonym="CT45-3; CT45-4; CT45-6; CT45.5; CT455;
                     CT45A3; CT45A4; CT45A6; CT45A7"
                     /note="cancer/testis antigen CT45-5; cancer/testis antigen
                     45-5; cancer/testis antigen 45A5; Cancer/testis antigen
                     family 45 member A6; Cancer/testis antigen 45-6;
                     Cancer/testis antigen 45A6; Cancer/testis antigen family 45
                     member A7; Cancer/testis antigen 45A7; Cancer/testis
                     antigen family 45 member A3; Cancer/testis antigen 45-3;
                     Cancer/testis antigen 45-4; Cancer/testis antigen 45A3;
                     Cancer/testis antigen 45A4; Cancer/testis antigen family 45
                     member A4"
                     /codon_start=1
                     /product="cancer/testis antigen family 45 member A5"
                     /protein_id="NP_001007552.2"
                     /db_xref="CCDS:CCDS35406.1"
                     /db_xref="GeneID:441521"
                     /db_xref="HGNC:HGNC:33270"
                     /db_xref="MIM:300796"
                     /translation="MTDKTEKVAVDPETVFKRPRECDSPSYQKRQRMALLARKQGAGDS
                     LIAGSAMSKEKKLMTGHAIPPSQLDSQIDDFTGFSKDGMMQKPGSNAPVGGNVTSSFSG
                     DDLECRETASSPKSQREINADIKRKLVKELRCVGQKYEKIFEMLEGVQGPTAVRKRFFE
                     SIIKEAARCMRRDFVKHLKKKLKRMI"
     misc_feature    274..354
                     /gene="CT45A5"
                     /gene_synonym="CT45-3; CT45-4; CT45-6; CT45.5; CT455;
                     CT45A3; CT45A4; CT45A6; CT45A7"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DMU8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    517..627
                     /gene="CT45A5"
                     /gene_synonym="CT45-3; CT45-4; CT45-6; CT45.5; CT455;
                     CT45A3; CT45A4; CT45A6; CT45A7"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DMU8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 agcactctgg cgcccccaac aggttcccag tgttcggctg gggcaggcac gctgtggctg
       61 gctacttccc ttcctcccat cccccttggg ccaaacggga tcggtgcttc tggtgagacg
      121 cctccccatg cacatcactc ccaggtgccc tagggggcac atttcccaca actcccagag
      181 ggcaggtttc tagaaagtgc caccagtggg gaggcgccac aacttcactg ccattttgtg
      241 aggtgccgcc gtctctcctc cagcaaggaa acaatgaccg ataaaacaga gaaggtggct
      301 gtagatcctg aaactgtgtt taaacgtccc agggaatgtg acagtccttc gtatcagaaa
      361 aggcagagga tggccctgtt ggcaaggaaa caaggagcag gagacagcct tattgcaggc
      421 tctgccatgt ccaaagaaaa gaagcttatg acaggacatg ctattccacc cagccaattg
      481 gattctcaga ttgatgactt cactggtttc agcaaagatg ggatgatgca gaaacctggt
      541 agcaatgcac ctgtgggagg aaacgttacc agcagtttct ctggagatga cctagaatgc
      601 agagaaacag cctcctctcc caaaagccaa cgagaaatta atgctgatat aaaacgtaaa
      661 ttagtgaagg aactccgatg cgttggacaa aaatatgaaa aaatcttcga aatgcttgaa
      721 ggagtgcaag gacctactgc agtcaggaag cgattttttg aatccatcat caaggaagca
      781 gcaagatgta tgagacgaga ctttgttaag caccttaaga agaaactgaa acgtatgatt
      841 tgagaatact tgtccctgga ggattatcac accccaaatg cataatctcg ttaatgattg
      901 aggagagaaa aggatcagat tgctgttttc tacaatggag caggatattg ctgaagtctc
      961 ctggcatatg ttaccgaatc aactggcctt ccagaggcta agaaatttct gttagtaaaa
     1021 gatgttcttt ttcccaaagc gttttatttg aaaggataac ttgtgttttg gttattttgt
     1081 attcccacct gtgctggtag atattattaa cccattaggt aaatactatt acagtcgtgg
     1141 tttctgcagc agctcacact gatgtagctg gcgtttataa ctaccttctt tcgctacccg
     1201 tttcgcattc cctttgccct gagatagcat gtcagttggt catgatgctt ggcctggcag
     1261 gatgactcaa accttcatta cggaagagtc tgaaccatta gatatcctgc ctggatgggg
     1321 ttgctgtgat tttccattaa ctctaatcga aaaacacagg aggactaaga agctctctag
     1381 acatatcaca catactcttc cttagcccct cgtgtggtgg gaacccgatc tcaatgttga
     1441 aatctgtatc atcagccttc aacgaaaagg cagaactaat gggagatttt aatgtgtgtg
     1501 tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg tgtgttggta gggggtatat atacatgcac
     1561 acacacactt tctaatctcc cattatacat ataatacaca ttacacatat tatatataca
     1621 cccccatata tatatatgta tgcgtgtgtg ggggggtata tccaatatat ataataaagg
     1681 tagttcctag ataggattgg tctgatacaa taatttggag ctgcagtagc agtccctgta
     1741 aggctgttgt ttccagatac gacttgaacg ttctatgctt tttatttttt ttaaagacag
     1801 aatcttgctc tgttgcccag gctagagtgc ggtgacacga tcacaagtca ctgccacctc
     1861 gacctcaccc cagttcaagc gatccttgtg cttcagcctt cgaagtagct gggattacag
     1921 gtgcaccaca ggtgccatca cgctgcaatt tttgtatttt tagtggagat ggggttttgc
     1981 catgttgtcc aggctggtct cgaaacctgg cctcaagtga tctgcccatc tcagcctccc
     2041 aaggttctag gattacaggc atgagccact gcacccagcc cattctatgc tttttttaaa
     2101 aaaattaatt cattcaatta ttcaacaaat attaattgtg ccaggtactt ttttttatta
     2161 tactttaagg tttagggtac atgtgcacaa cgtgcaggtt tgttacatat gtatacatgt
     2221 gccatttttg tgtgctgcac ccattaactc atcatttaac attaggtata tctcctaatg
     2281 ctatccctcc cccctcccca caccccacaa caggacccag tgtgtgatgt tccccttcct
     2341 gtgtccatgt gttctcattg ttcagttccc acctatgagg gagaacatgc ggtgtttggt
     2401 tttttgtcct tgcgatagtt tgctgagaat gatggtttcc agcttcatcc atgtccctac
     2461 aaaggacatg aactcatcat ttttcatggc tgcatagtat tccatggtgt atatgtgcca
     2521 cgttttctta atccagtcta tcattgttgg acatttgggt tggttccaag tctttgctat
     2581 tgtgaatagt gccacaataa acatacgtgt gcatgtgtct ttatagc
//
LOCUS       NM_001007553            4097 bp    mRNA    linear   PRI 05-JUL-2023
DEFINITION  Homo sapiens cold shock domain containing E1 (CSDE1), transcript
            variant 1, mRNA.
ACCESSION   NM_001007553
VERSION     NM_001007553.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4097)
  AUTHORS   Smith GA, Padmanabhan A, Lau BH, Pampana A, Li L, Lee CY, Pelonero
            A, Nishino T, Sadagopan N, Xia VQ, Jain R, Natarajan P, Wu RS, Black
            BL, Srivastava D, Shokat KM and Chorba JS.
  TITLE     Cold shock domain-containing protein E1 is a posttranscriptional
            regulator of the LDL receptor
  JOURNAL   Sci Transl Med 14 (662), eabj8670 (2022)
   PUBMED   36103516
  REMARK    GeneRIF: Cold shock domain-containing protein E1 is a
            posttranscriptional regulator of the LDL receptor.
REFERENCE   2  (bases 1 to 4097)
  AUTHORS   Kim Y, Ko JY, Lee SB, Oh S, Park JW, Kang HG, Kim DH, Chung D, Lim
            S, Kong H, Kim J, Yoo KH, Han W, Chun KH and Park JH.
  TITLE     Reduced miR-371b-5p expression drives tumor progression via
            CSDE1/RAC1 regulation in triple-negative breast cancer
  JOURNAL   Oncogene 41 (22), 3151-3161 (2022)
   PUBMED   35490208
  REMARK    GeneRIF: Reduced miR-371b-5p expression drives tumor progression via
            CSDE1/RAC1 regulation in triple-negative breast cancer.
REFERENCE   3  (bases 1 to 4097)
  AUTHORS   Avolio R, Ingles-Ferrandiz M, Ciocia A, Coll O, Bonnin S, Guitart T,
            Ribo A and Gebauer F.
  TITLE     Coordinated post-transcriptional control of oncogene-induced
            senescence by UNR/CSDE1
  JOURNAL   Cell Rep 38 (2), 110211 (2022)
   PUBMED   35021076
  REMARK    GeneRIF: Coordinated post-transcriptional control of
            oncogene-induced senescence by UNR/CSDE1.
REFERENCE   4  (bases 1 to 4097)
  AUTHORS   Kottke T, Tonne J, Evgin L, Driscoll CB, van Vloten J, Jennings VA,
            Huff AL, Zell B, Thompson JM, Wongthida P, Pulido J, Schuelke MR,
            Samson A, Selby P, Ilett E, McNiven M, Roberts LR, Borad MJ, Pandha
            H, Harrington K, Melcher A and Vile RG.
  TITLE     Oncolytic virotherapy induced CSDE1 neo-antigenesis restricts VSV
            replication but can be targeted by immunotherapy
  JOURNAL   Nat Commun 12 (1), 1930 (2021)
   PUBMED   33772027
  REMARK    GeneRIF: Oncolytic virotherapy induced CSDE1 neo-antigenesis
            restricts VSV replication but can be targeted by immunotherapy.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4097)
  AUTHORS   He W, Azzi-Martin L, Velasco V, Lehours P, Dubus P, Djavaheri-Mergny
            M and Menard A.
  TITLE     The CDT of Helicobacter hepaticus induces pro-survival autophagy and
            nucleoplasmic reticulum formation concentrating the RNA binding
            proteins UNR/CSDE1 and P62/SQSTM1
  JOURNAL   PLoS Pathog 17 (3), e1009320 (2021)
   PUBMED   33662035
  REMARK    GeneRIF: The CDT of Helicobacter hepaticus induces pro-survival
            autophagy and nucleoplasmic reticulum formation concentrating the
            RNA binding proteins UNR/CSDE1 and P62/SQSTM1. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 4097)
  AUTHORS   Grosset C, Chen CY, Xu N, Sonenberg N, Jacquemin-Sablon H and Shyu
            AB.
  TITLE     A mechanism for translationally coupled mRNA turnover: interaction
            between the poly(A) tail and a c-fos RNA coding determinant via a
            protein complex
  JOURNAL   Cell 103 (1), 29-40 (2000)
   PUBMED   11051545
REFERENCE   7  (bases 1 to 4097)
  AUTHORS   Hunt SL, Hsuan JJ, Totty N and Jackson RJ.
  TITLE     unr, a cellular cytoplasmic RNA-binding protein with five cold-shock
            domains, is required for internal initiation of translation of human
            rhinovirus RNA
  JOURNAL   Genes Dev 13 (4), 437-448 (1999)
   PUBMED   10049359
REFERENCE   8  (bases 1 to 4097)
  AUTHORS   Boussadia O, Jacquemin-Sablon H and Dautry F.
  TITLE     Exon skipping in the expression of the gene immediately upstream of
            N-ras (unr/NRU)
  JOURNAL   Biochim Biophys Acta 1172 (1-2), 64-72 (1993)
   PUBMED   8439573
REFERENCE   9  (bases 1 to 4097)
  AUTHORS   Nicolaiew N, Triqueneaux G and Dautry F.
  TITLE     Organization of the human N-ras locus: characterization of a gene
            located immediately upstream of N-ras
  JOURNAL   Oncogene 6 (5), 721-730 (1991)
   PUBMED   2052355
REFERENCE   10  (bases 1 to 4097)
  AUTHORS   Jeffers M, Paciucci R and Pellicer A.
  TITLE     Characterization of unr; a gene closely linked to N-ras
  JOURNAL   Nucleic Acids Res 18 (16), 4891-4899 (1990)
   PUBMED   2204029
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.247132.1,
            SRR1803613.114801.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000358528.9/ ENSP00000351329.4
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP202324.1, AB020692.1 and BU681634.1.
            On Nov 22, 2018 this sequence version replaced NM_001007553.2.
            Transcript Variant: This variant (1) differs in the 5' UTR and
            coding sequence compared to variant 4. The resulting isoform (1) is
            shorter at the N-terminus compared to isoform 4. Variants 1 and 5
            both encode isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4097
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     gene            1..4097
                     /gene="CSDE1"
                     /gene_synonym="D1S155E; UNR"
                     /note="cold shock domain containing E1"
                     /db_xref="GeneID:7812"
                     /db_xref="HGNC:HGNC:29905"
                     /db_xref="MIM:191510"
     misc_feature    361..363
                     /gene="CSDE1"
                     /gene_synonym="D1S155E; UNR"
                     /note="upstream in-frame stop codon"
     CDS             448..2844
                     /gene="CSDE1"
                     /gene_synonym="D1S155E; UNR"
                     /note="isoform 1 is encoded by transcript variant 1;
                     upstream of NRAS; NRAS-related; cold shock
                     domain-containing protein E1; cold shock domain containing
                     E1, RNA binding; N-ras upstream gene protein"
                     /codon_start=1
                     /product="cold shock domain-containing protein E1 isoform
                     1"
                     /protein_id="NP_001007554.1"
                     /db_xref="CCDS:CCDS30812.1"
                     /db_xref="GeneID:7812"
                     /db_xref="HGNC:HGNC:29905"
                     /db_xref="MIM:191510"
                     /translation="MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSER
                     QARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQV
                     VCAVPHNLESKSPAAPGQSPTGSVCYERNGEVFYLTYTPEDVEGNVQLETGDKINFVID
                     NNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLET
                     LQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQND
                     PLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNT
                     FQFTNEAREMGVIAAMRDGFGFIKCVDRDVRMFFHFSEILDGNQLHIADEVEFTVVPDM
                     LSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGI
                     IAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSK
                     RLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSA
                     EKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFG
                     IVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGD
                     SKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRL
                     VNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID"
     misc_feature    688..690
                     /gene="CSDE1"
                     /gene_synonym="D1S155E; UNR"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O75534.2); acetylation site"
     misc_feature    814..816
                     /gene="CSDE1"
                     /gene_synonym="D1S155E; UNR"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75534.2); phosphorylation site"
     misc_feature    1273..1275
                     /gene="CSDE1"
                     /gene_synonym="D1S155E; UNR"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75534.2); phosphorylation site"
     misc_feature    1987..1989
                     /gene="CSDE1"
                     /gene_synonym="D1S155E; UNR"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O75534.2); phosphorylation site"
     misc_feature    2197..2199
                     /gene="CSDE1"
                     /gene_synonym="D1S155E; UNR"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75534.2); phosphorylation site"
     misc_feature    2728..2730
                     /gene="CSDE1"
                     /gene_synonym="D1S155E; UNR"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75534.2); phosphorylation site"
     regulatory      3700..3705
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSDE1"
                     /gene_synonym="D1S155E; UNR"
                     /note="hexamer: AATAAA"
     polyA_site      3721
                     /gene="CSDE1"
                     /gene_synonym="D1S155E; UNR"
     regulatory      4068..4073
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSDE1"
                     /gene_synonym="D1S155E; UNR"
                     /note="hexamer: AATAAA"
     polyA_site      4097
                     /gene="CSDE1"
                     /gene_synonym="D1S155E; UNR"
                     /note="major polyA site"
ORIGIN
        1 cctacgtacc gggccgtgct gcttatggcg gcgctggaga gggggcgctg agctgttggg
       61 tatgaagtgt aacagaacag actttaccac ctgaaactgc tgcttcaagt tcagatcagg
      121 caaggaacaa acctcgtaac aactaacaag accaaagaag agtacactta agttgaagac
      181 acaacacttg atctgaaaca agaagtttgt gcctactcaa cagctttgaa agagcacttc
      241 ccaacgctgc tagtagtctt tgttttcttc agtgctgtac tgtgagattg cccggtacag
      301 cagcagttgt attctttatt agcttggtag atcattttct ctcgctcttt tttttaatac
      361 tagcaacttt catcctttga aacgtgtgct gaaaaagaag aatcagcaaa tactactgaa
      421 agtgcaatat ttgagtatca ctgcgagatg agctttgatc caaaccttct ccacaacaat
      481 ggacataatg ggtaccctaa tggtacttca gcagcactgc gtgaaactgg ggttattgaa
      541 aaactgttaa cctcttacgg atttattcag tgttcagaac gtcaagctag acttttcttc
      601 cactgttcac agtataatgg caacctgcaa gacttaaaag taggagatga tgttgaattt
      661 gaagtatcat cggaccgacg gactgggaaa cccattgctg ttaaactggt gaagataaaa
      721 caagaaatcc tccctgaaga acgaatgaat ggacaagttg tgtgcgctgt tcctcacaac
      781 ttagagagta aatctccagc tgccccgggt cagagtccaa cagggagtgt atgctacgaa
      841 cgtaatgggg aagtgtttta tctgacttac acccctgaag atgtcgaagg gaacgttcag
      901 ctggaaactg gagataaaat aaactttgta attgataaca ataaacatac tggtgctgta
      961 agtgctcgca acattatgct gttgaaaaag aaacaagccc gctgtcaggg agtagtttgt
     1021 gccatgaagg aggcatttgg ctttattgaa agaggtgatg ttgtaaaaga gatattcttt
     1081 cactatagtg aatttaaggg tgacttagaa accttacagc ctggcgatga tgtggaattc
     1141 acaatcaagg acagaaatgg taaagaagtt gcaacagatg tcagactatt gcctcaagga
     1201 acagtcattt ttgaagatat cagcattgaa cattttgaag gaactgtaac caaagttatc
     1261 ccaaaagtac ccagtaaaaa ccagaatgac ccattgccag gacgcatcaa agttgacttt
     1321 gtgatcccta aagaacttcc ctttggagac aaagatacga aatccaaggt gaccctgctg
     1381 gaaggtgacc atgttaggtt taatatttca acagaccgac gtgacaaatt agagcgagca
     1441 accaatatag aagttctgtc aaatacattt cagttcacta atgaagcccg agaaatgggt
     1501 gtgattgctg ccatgagaga tggttttggt ttcatcaagt gtgtggatcg tgatgttcgt
     1561 atgttcttcc acttcagtga aattctggat gggaaccagc tccatattgc agatgaagta
     1621 gagtttactg tggttcctga tatgctctct gctcaaagaa atcatgctat taggattaaa
     1681 aaacttccca agggcacggt ttcatttcat tcccattcag atcaccgttt tctgggcacg
     1741 gtagaaaaag aagccacttt ttccaatcct aaaaccacta gcccaaataa aggcaaagag
     1801 aaggaggctg aggatggcat tattgcttat gatgactgtg gggtgaaact gactattgct
     1861 tttcaagcca aggatgtgga aggatctact tctcctcaaa taggagataa ggttgaattt
     1921 agtattagtg acaaacagag gcctggacag caggttgcaa cttgtgtgcg acttttaggt
     1981 cgtaattcta actccaagag gctcttgggt tatgtggcaa ctctgaagga taattttgga
     2041 tttattgaaa cagccaatca tgataaggaa atctttttcc attacagtga gttctctggt
     2101 gatgttgata gcctggaact gggggacatg gtcgagtata gcttgtccaa aggcaaaggc
     2161 aacaaagtca gtgcagaaaa agtgaacaaa acacactcag tgaatggcat tactgaggaa
     2221 gctgatccca ccatttactc tggcaaagta attcgccccc tgaggagtgt tgatccaaca
     2281 cagactgagt accaaggaat gattgagatt gtggaggagg gcgatatgaa aggtgaggtc
     2341 tatccatttg gcatcgttgg gatggccaac aaaggggatt gcctgcagaa aggggagagc
     2401 gtcaagttcc aattgtgtgt cctgggccaa aatgcacaaa ctatggctta caacatcaca
     2461 cccctgcgca gggccacagt ggaatgtgtg aaagatcagt ttggcttcat taactatgaa
     2521 gtaggagata gcaagaagct ctttttccat gtgaaagaag ttcaggatgg cattgagcta
     2581 caggcaggag atgaggtgga gttctcagtg attcttaatc agcgcactgg caagtgcagc
     2641 gcctgtaatg tttggcgagt ctgtgagggc cccaaggctg ttgcagctcc tcgacctgat
     2701 cggttggtca atcgcttgaa gaatatcact ctggatgatg ccagtgctcc tcgcctaatg
     2761 gttcttcgtc agccaagggg accagataac tcaatggggt ttggtgcaga aagaaagatc
     2821 cgtcaagctg gtgtcattga ctaaccacat ccacaaagca caccattaat ccactatgat
     2881 caagttgggg ggaatctggt gaagggttct gaatatctcc ctcttcatcc ctcccgaaat
     2941 ctggaatact tattctattg agctattaca ccagttttaa caccttcctc gtgttatgtt
     3001 taaaaaaata aataaattta agaaaaccat tttaaataat gcacagttgc agcctggaaa
     3061 aacttaaggt ggcgccttat agtatcaatt ttaggagctt tatttggtgc atttaacgca
     3121 actggtaatt gcagaatcca ctttgcctgt gtaagtgaaa aatatagact gttatcttgt
     3181 tggccctatg aaattctgca cttttcatta tatactctac cttcattaat tacttctggc
     3241 aagatgttct gccttagcac tcagttgcat tcttttcctt tttcttcctg ttcattatgc
     3301 tttaattctg aggaccatat gagggtagaa tatattatct tttaaaaatt acaaaaattt
     3361 gtataggcaa accatttctt aaagttgatg gccaaatttt aaaatgttat ttttcatatc
     3421 atttataatc ttgtcacaat ccacttaaag aagtttggtt atatttcagt gaaaattttc
     3481 ttccagagta ggtttttttt cgtgggttgg ggggtaactt tactacaatt agtaagtatg
     3541 gtgcagaatt tcatgcaaat gaggagtgcc agcagtgtga taatttaaac atatttaaac
     3601 aaaaacaaaa aaaatgaatg cacaaacttg ctgctgctta gatcactgca gcttctagga
     3661 cccggtttct tttactgatt taaaaacaaa acaaaaaaaa ataaaaaagt tgtgcctgaa
     3721 atgaatcttg ttttttttta taagtagccg cctggttact gtgtcctgta aaatacagac
     3781 acttgaccct tggtgtagct tctgttcaac tttatatcac gggaatggat gggtctgatt
     3841 tcttggccct cttcttgaat tggccatata cagggtccct ggccagtgga ctgaaggctt
     3901 tgtctaagat gacaagggtc agctcagggg atgtggggga gggcggtttt atcttccccc
     3961 ttgtcgtttg aggttttgat ctctgggtaa agaggccgtt tatctttgta aacacgaaac
     4021 atttttgctt tctccagttt tctgttaatg gcgaaagaat ggaagcgaat aaagttttac
     4081 tgatttttga gacacta
//
LOCUS       NM_001007559            3402 bp    mRNA    linear   PRI 19-FEB-2023
DEFINITION  Homo sapiens SS18 subunit of BAF chromatin remodeling complex
            (SS18), transcript variant 1, mRNA.
ACCESSION   NM_001007559
VERSION     NM_001007559.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3402)
  AUTHORS   Weinreb I, Hahn E, Dickson BC, Rooper LM, Rupp NJ, Freiberger SN,
            Lubin D, Gagan J and Bishop JA.
  TITLE     Microcribriform Adenocarcinoma of Salivary Glands: A Unique Tumor
            Entity Characterized by an SS18::ZBTB7A Fusion
  JOURNAL   Am J Surg Pathol 47 (2), 194-201 (2023)
   PUBMED   36221318
  REMARK    GeneRIF: Microcribriform Adenocarcinoma of Salivary Glands: A Unique
            Tumor Entity Characterized by an SS18::ZBTB7A Fusion.
REFERENCE   2  (bases 1 to 3402)
  AUTHORS   Tay TKY, Sukma NB, Lim TH, Kuick CH, Goh JY and Chang KTE.
  TITLE     Correlating SS18-SSX immunohistochemistry (IHC) with SS18
            fluorescent in situ hybridization (FISH) in synovial sarcomas: a
            study of 36 cases
  JOURNAL   Virchows Arch 479 (4), 785-793 (2021)
   PUBMED   34091760
  REMARK    GeneRIF: Correlating SS18-SSX immunohistochemistry (IHC) with SS18
            fluorescent in situ hybridization (FISH) in synovial sarcomas: a
            study of 36 cases.
REFERENCE   3  (bases 1 to 3402)
  AUTHORS   Kuang J, Zhai Z, Li P, Shi R, Guo W, Yao Y, Guo J, Zhao G, He J, Xu
            S, Wu C, Yu S, Zhou C, Wu L, Qin Y, Cai B, Li W, Wu Z, Li X, Chu S,
            Yang T, Wang B, Cao S, Li D, Zhang X, Chen J, Liu J and Pei D.
  TITLE     SS18 regulates pluripotent-somatic transition through phase
            separation
  JOURNAL   Nat Commun 12 (1), 4090 (2021)
   PUBMED   34215745
  REMARK    GeneRIF: SS18 regulates pluripotent-somatic transition through phase
            separation. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3402)
  AUTHORS   McBride MJ, Mashtalir N, Winter EB, Dao HT, Filipovski M, D'Avino
            AR, Seo HS, Umbreit NT, St Pierre R, Valencia AM, Qian K, Zullow HJ,
            Jaffe JD, Dhe-Paganon S, Muir TW and Kadoch C.
  TITLE     The nucleosome acidic patch and H2A ubiquitination underlie mSWI/SNF
            recruitment in synovial sarcoma
  JOURNAL   Nat Struct Mol Biol 27 (9), 836-845 (2020)
   PUBMED   32747783
  REMARK    GeneRIF: The nucleosome acidic patch and H2A ubiquitination underlie
            mSWI/SNF recruitment in synovial sarcoma. Erratum:[Nat Struct Mol
            Biol. 2021 Jan;28(1):118. PMID: 33273722]
REFERENCE   5  (bases 1 to 3402)
  AUTHORS   Bishop JA, Weinreb I, Swanson D, Westra WH, Qureshi HS, Sciubba J,
            MacMillan C, Rooper LM and Dickson BC.
  TITLE     Microsecretory Adenocarcinoma: A Novel Salivary Gland Tumor
            Characterized by a Recurrent MEF2C-SS18 Fusion
  JOURNAL   Am J Surg Pathol 43 (8), 1023-1032 (2019)
   PUBMED   31094920
  REMARK    GeneRIF: A novel MEF2C-SS18 gene fusion and unique histologic and
            immunophenotypic features characterize a heretofore undefined
            low-grade salivary adenocarcinoma for described as a microsecretory
            adenocarcinoma.
REFERENCE   6  (bases 1 to 3402)
  AUTHORS   Thaete C, Brett D, Monaghan P, Whitehouse S, Rennie G, Rayner E,
            Cooper CS and Goodwin G.
  TITLE     Functional domains of the SYT and SYT-SSX synovial sarcoma
            translocation proteins and co-localization with the SNF protein BRM
            in the nucleus
  JOURNAL   Hum Mol Genet 8 (4), 585-591 (1999)
   PUBMED   10072425
REFERENCE   7  (bases 1 to 3402)
  AUTHORS   Brett D, Whitehouse S, Antonson P, Shipley J, Cooper C and Goodwin
            G.
  TITLE     The SYT protein involved in the t(X;18) synovial sarcoma
            translocation is a transcriptional activator localised in nuclear
            bodies
  JOURNAL   Hum Mol Genet 6 (9), 1559-1564 (1997)
   PUBMED   9285794
REFERENCE   8  (bases 1 to 3402)
  AUTHORS   Fligman I, Lonardo F, Jhanwar SC, Gerald WL, Woodruff J and Ladanyi
            M.
  TITLE     Molecular diagnosis of synovial sarcoma and characterization of a
            variant SYT-SSX2 fusion transcript
  JOURNAL   Am J Pathol 147 (6), 1592-1599 (1995)
   PUBMED   7495284
REFERENCE   9  (bases 1 to 3402)
  AUTHORS   Clark J, Rocques PJ, Crew AJ, Gill S, Shipley J, Chan AM, Gusterson
            BA and Cooper CS.
  TITLE     Identification of novel genes, SYT and SSX, involved in the
            t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma
  JOURNAL   Nat Genet 7 (4), 502-508 (1994)
   PUBMED   7951320
REFERENCE   10  (bases 1 to 3402)
  AUTHORS   Shipley JM, Clark J, Crew AJ, Birdsall S, Rocques PJ, Gill S, Chelly
            J, Monaco AP, Abe S, Gusterson BA et al.
  TITLE     The t(X;18)(p11.2;q11.2) translocation found in human synovial
            sarcomas involves two distinct loci on the X chromosome
  JOURNAL   Oncogene 9 (5), 1447-1453 (1994)
   PUBMED   8152806
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.159235.1,
            SRR1660805.208549.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03267770
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000415083.7/ ENSP00000414516.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AU279615.1, AF343880.1, X79201.1, AC091021.8 and AW081610.1.
            On Nov 22, 2018 this sequence version replaced NM_001007559.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3402
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q11.2"
     gene            1..3402
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /note="SS18 subunit of BAF chromatin remodeling complex"
                     /db_xref="GeneID:6760"
                     /db_xref="HGNC:HGNC:11340"
                     /db_xref="MIM:600192"
     CDS             45..1301
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein SSXT; synovial sarcoma, translocated to X
                     chromosome; SS18, nBAF chromatin remodeling complex
                     subunit; synovial sarcoma translocation, chromosome 18;
                     synovial sarcoma translocated to X chromosome protein"
                     /codon_start=1
                     /product="protein SSXT isoform 1"
                     /protein_id="NP_001007560.1"
                     /db_xref="CCDS:CCDS32807.1"
                     /db_xref="GeneID:6760"
                     /db_xref="HGNC:HGNC:11340"
                     /db_xref="MIM:600192"
                     /translation="MSVAFAAPRQRGKGEITPAAIQKMLDDNNHLIQCIMDSQNKGKTS
                     ECSQYQQMLHTNLVYLATIADSNQNMQSLLPAPPTQNMPMGPGGMNQSGPPPPPRSHNM
                     PSDGMVGGGPPAPHMQNQMNGQMPGPNHMPMQGPGPNQLNMTNSSMNMPSSSHGSMGGY
                     NHSVPSSQSMPVQNQMTMSQGQPMGNYGPRPNMSMQPNQGPMMHQQPPSQQYNMPQGGG
                     QHYQGQQPPMGMMGQVNQGNHMMGQRQIPPYRPPQQGPPQQYSGQEDYYGDQYSHGGQG
                     PPEGMNQQYYPDGHNDYGYQQPSYPEQGYDRPYEDSSQHYYEGGNSQYGQQQDAYQGPP
                     PQQGYPPQQQQYPGQQGYPGQQQGYGPSQGGPGPQYPNYPQGQGQQYGGYRPTQPGPPQ
                     PPQQRPYGYDQGQYGNYQQ"
     misc_feature    48..602
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15532.3);
                     Region: Transcriptional activation"
     misc_feature    48..50
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q15532.3); acetylation site"
     misc_feature    192..203
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15532.3);
                     Region: SH2-binding. /evidence=ECO:0000255"
     misc_feature    273..398
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15532.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    606..1298
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15532.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1074..1151
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15532.3);
                     Region: 2 X 13 AA imperfect tandem repeats"
     misc_feature    1140..1145
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /note="Breakpoint for translocation to form the SSXT-SSX1
                     fusion protein (rare).
                     /evidence=ECO:0000269|PubMed:7539744; propagated from
                     UniProtKB/Swiss-Prot (Q15532.3); other site"
     misc_feature    1164..1175
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15532.3);
                     Region: SH2-binding. /evidence=ECO:0000255"
     misc_feature    1218..1247
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15532.3);
                     Region: SH3-binding. /evidence=ECO:0000255"
     misc_feature    1272..1277
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /note="Breakpoint for translocation to form the SSXT-SSX1
                     or SSXT-SSX2 fusion proteins.
                     /evidence=ECO:0000269|PubMed:7539744; propagated from
                     UniProtKB/Swiss-Prot (Q15532.3); other site"
     misc_feature    1281..1292
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15532.3);
                     Region: SH2-binding. /evidence=ECO:0000255"
     regulatory      3381..3386
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /note="hexamer: AATAAA"
     polyA_site      3402
                     /gene="SS18"
                     /gene_synonym="SMARCL1; SSXT; SYT"
                     /note="major polyA site"
ORIGIN
        1 acccggagcg ctcgggactt gccgatagtg gtgacggcgg caacatgtct gtggctttcg
       61 cggccccgag gcagcgaggc aagggggaga tcactcccgc tgcgattcag aagatgttgg
      121 atgacaataa ccatcttatt cagtgtataa tggactctca gaataaagga aagacctcag
      181 agtgttctca gtatcagcag atgttgcaca caaacttggt ataccttgct acaatagcag
      241 attctaatca aaatatgcag tctcttttac cagcaccacc cacacagaat atgcctatgg
      301 gtcctggagg gatgaatcag agcggccctc ccccacctcc acgctctcac aacatgcctt
      361 cagatggaat ggtaggtggg ggtcctcctg caccgcacat gcagaaccag atgaacggcc
      421 agatgcctgg gcctaaccat atgcctatgc agggacctgg acccaatcaa ctcaatatga
      481 caaacagttc catgaatatg ccttcaagta gccatggatc catgggaggt tacaaccatt
      541 ctgtgccatc atcacagagc atgccagtac agaatcagat gacaatgagt cagggacaac
      601 caatgggaaa ctatggtccc agaccaaata tgagtatgca gccaaaccaa ggtccaatga
      661 tgcatcagca gcctccttct cagcaataca atatgccaca gggaggcgga cagcattacc
      721 aaggacagca gccacctatg ggaatgatgg gtcaagttaa ccaaggcaat catatgatgg
      781 gtcagagaca gattcctccc tatagacctc ctcaacaggg cccaccacag cagtactcag
      841 gccaggaaga ctattacggg gaccaataca gtcatggtgg acaaggtcct ccagaaggca
      901 tgaaccagca atattaccct gatggtcata atgattacgg ttatcagcaa ccgtcgtatc
      961 ctgaacaagg ctacgatagg ccttatgagg attcctcaca acattactac gaaggaggaa
     1021 attcacagta tggccaacag caagatgcat accagggacc acctccacaa cagggatatc
     1081 caccccagca gcagcagtac ccagggcagc aaggttaccc aggacagcag cagggctacg
     1141 gtccttcaca gggtggtcca ggtcctcagt atcctaacta cccacaggga caaggtcagc
     1201 agtatggagg atatagacca acacagcctg gaccaccaca gccaccccag cagaggcctt
     1261 atggatatga ccagggacag tatggaaatt accagcagtg aaaaagtact tacattccag
     1321 tagccagtat ctattagcag ccatattgtc acctcagcac tgtggacacc tccctgtgaa
     1381 gagatccttc cattccatct agtttttgga aaaaccttgt ggataagtgg ctgtttcatc
     1441 agtaagcagc ctttgtggtt tagttataaa aggctttagt agctcaaaaa tactcttgat
     1501 ttcacatttc tactctagat ggcaacattg gacagaaaat gcaatgacat aaccaatttg
     1561 taatgatttt ggaactgtgt ttcaaatgga ctgttacaga ctgaaaggtg tgaacagctt
     1621 tgtatgttta tgaagggtaa gggaatttaa tacttttcca cagatttttt tgtaagggga
     1681 agagggaaat gtacactttt tacagcagca atattttgta tattatgttt atttcatgtg
     1741 gtgaatatgc aaggcggtac actacgcact ggacagcatc agaaatcctc tgttaatgtg
     1801 gactggaaca tggtagatgc ttgattgttt tggtctcaaa atggtgtgct ataaagataa
     1861 aggtgagggg aagacaaagc acaccatatg tccactgttc tgttctcata gaggaaattc
     1921 aaatcccttt tatctattag ataatcaagg gcactgtgat acagttttga gtaaaaagac
     1981 attttttaaa agccttccag ttttgtggat taaacctttt tataaagatc atttataata
     2041 ctgttttaaa atgtgaggca ataagaatta ctttgtgttg gatctgagga ggctttggta
     2101 aaacagtttc atctaaatga aagtggtaat cctcttctaa aatagcaata actgaaaatg
     2161 aaagtgttaa ttttaccttg tttgagttat cagggaactt agtaagtaat atcaaagcat
     2221 tttataaatg atatcaaaga agagtcaaca ttgatccagt cattttattt tgtaatattg
     2281 agggataatt ggttattaaa ctgaatagtt caggagactt tacaaacctt tgtttcaact
     2341 ttcttatctg gaaataatat catttataaa gggacacttt tatgtttttc ccttttttat
     2401 gttggttgat ataacacaaa gagatattta ggaaaatgct tattgatgag gtttattcta
     2461 tctgttttta aagcaccgag gttgcattct agataacctt gtttattagc atggcatatt
     2521 ttaatcatta tttgagactg tcctgtgcct gattatttta gctaaattca gggagattgc
     2581 gtggggcagg aaagcatgca ttgaaaaatt tctaaccacg gttatttaag cataatctga
     2641 aaacatctag cccaaaggta agttgctatt ttcatcacag ttgcctatgc ccagggaata
     2701 agatgtattc tttataattg aattggtttt tcccacgtct aactggaaac aaaacagaag
     2761 gggcgtcata aatttgaata agcagaacat actgttctca acatactgta atcaaaagga
     2821 ggaatttcag tgggtctctg tgtgtgtatg agagagagag tgtgtgtttg tgtgtttcaa
     2881 ggtcagaaca ggtttttttg tttttgtttt ttgttctttg tttttttttt tgagatggag
     2941 tcttgctctt gtcgcccagg ctggagtgca gtggcgcaat ctcagctcac tgcaacctcc
     3001 gcctcccagg ttcaagcagt tctcctgcct cagcctcctg agtagctggg atgacaggca
     3061 cccgccacca cacccagcta atttttgtac ttttagtaga gacgaggttt cgccatgttg
     3121 gccaggctgg tctcgaactc ctgacctcag gtgatccacc cgcctcggcc ttccaaagtg
     3181 ctgggattac aggcgtgagc caccgtgcct ggccagaata ggttttttct ttcaacttga
     3241 tcagtagaaa atggacatca agtttgaaca gataaatcat ggacagcctt attgtgattg
     3301 aaatgcttgt aggttctgtg ccaattttcc accactgtgt actttgttgc tatttaaaac
     3361 tgtatcaact ctaacggaag aataaattat ttgtgatttt aa
//
LOCUS       NM_001007561            9686 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens immunity related GTPase Q (IRGQ), mRNA.
ACCESSION   NM_001007561
VERSION     NM_001007561.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9686)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 9686)
  AUTHORS   Bekpen C, Hunn JP, Rohde C, Parvanova I, Guethlein L, Dunn DM,
            Glowalla E, Leptin M and Howard JC.
  TITLE     The interferon-inducible p47 (IRG) GTPases in vertebrates: loss of
            the cell autonomous resistance mechanism in the human lineage
  JOURNAL   Genome Biol 6 (11), R92 (2005)
   PUBMED   16277747
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2504402.1,
            SRR11853564.14507.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968189, SAMEA1968540
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000422989.6/ ENSP00000387535.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CN315405.1, BC137020.1, AC006276.1 and BM669904.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 13, 2020 this sequence version replaced NM_001007561.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..9686
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.31"
     gene            1..9686
                     /gene="IRGQ"
                     /gene_synonym="FKSG27; IRGQ1"
                     /note="immunity related GTPase Q"
                     /db_xref="GeneID:126298"
                     /db_xref="HGNC:HGNC:24868"
     CDS             156..2027
                     /gene="IRGQ"
                     /gene_synonym="FKSG27; IRGQ1"
                     /note="immunity-related GTPase family, Q1"
                     /codon_start=1
                     /product="immunity-related GTPase family Q protein"
                     /protein_id="NP_001007562.1"
                     /db_xref="CCDS:CCDS33040.1"
                     /db_xref="GeneID:126298"
                     /db_xref="HGNC:HGNC:24868"
                     /translation="MPPPQGDVTALFLGPPGLGKSALIAALCDKDVETLEAPEGRPDSG
                     VPSLRAAGPGLFLGELSCPPAAPGPWAAEANVLVLVLPGPEGNGEPLAPALGEAALAAL
                     ARGTPLLAVRNLRPGDSQTAAQARDQTAALLNSAGLGAADLFVLPANCGSSDGCEELER
                     LRAALQSQAEALRRLLPPAQDGFEVLGAAELEAVREAFETGGLEAALSWVRSGLERLGS
                     ARLDLAVAGKADVGLVVDMLLGLDPGDPGAAPASVPTAPTPFPAPERPNVVLWTVPLGH
                     TGTATTAAAASHPTHYDALILVTPGAPTEKDWAQVQALLLPDAPLVCVRTDGEGEDPEC
                     LGEGKMENPKGESLKNAGGGGLENALSKGREKCSAGSQKAGSGEGPGKAGSEGLQQVVG
                     MKKSGGGDSERAAALSPEDETWEVLEEAPPPVFPLRPGGLPGLCEWLRRALPPAQAGAL
                     LLALPPASPSAARTKAAALRAGAWRPALLASLAAAAAPLPGLGWACDVALLRGQLAEWR
                     RGLGLEPTALARRERALGLASGELAARAHFPGPVTRAEVEARLGAWAGEGTAGGAALGA
                     LSFLWPAGGAAATGGLGYRAAHGVLLQALDEMRADAEAVLAPPEPAQ"
     misc_feature    762..764
                     /gene="IRGQ"
                     /gene_synonym="FKSG27; IRGQ1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8WZA9.1); phosphorylation site"
     misc_feature    1155..1334
                     /gene="IRGQ"
                     /gene_synonym="FKSG27; IRGQ1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZA9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      8095..8100
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IRGQ"
                     /gene_synonym="FKSG27; IRGQ1"
                     /note="hexamer: AATAAA"
     polyA_site      8117
                     /gene="IRGQ"
                     /gene_synonym="FKSG27; IRGQ1"
                     /note="major polyA site"
     regulatory      9662..9667
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IRGQ"
                     /gene_synonym="FKSG27; IRGQ1"
                     /note="hexamer: AATAAA"
     regulatory      9667..9672
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IRGQ"
                     /gene_synonym="FKSG27; IRGQ1"
                     /note="hexamer: AATGAA"
     polyA_site      9682
                     /gene="IRGQ"
                     /gene_synonym="FKSG27; IRGQ1"
     polyA_site      9686
                     /gene="IRGQ"
                     /gene_synonym="FKSG27; IRGQ1"
ORIGIN
        1 aggttaaagc taccgggacg ggtcccggca tctctaaatc accgctccct ggcctcttcg
       61 gcctccgtcc gccgcggccc aggggccggg cttctcagct gctgacctac tgccaccgac
      121 tgcgctctct cccgtgggtc ggctttttgc tcgccatgcc tccgccgcag ggtgacgtga
      181 ccgccttgtt cctggggcct ccgggcttgg ggaagtccgc gctgatcgca gcgctgtgcg
      241 acaaggatgt ggagacgctc gaggcccccg agggacggcc ggactccggg gttcccagcc
      301 taagagctgc gggcccaggc ctttttctgg gcgagctgag ctgcccaccc gcagcgccgg
      361 ggccctgggc ggcggaagcc aacgtgctgg tactggtgct gcccggaccc gaggggaacg
      421 gggaaccgtt ggctccagcc ctgggagagg cagcgctggc cgccctggcc cgagggaccc
      481 cgctactggc tgtgcggaac ctccgtcctg gggattcaca gactgccgcc caggcccgtg
      541 atcagacagc agctctgctg aacagcgcgg ggttaggagc tgcggatctg tttgtgctac
      601 cggcgaactg cggcagcagc gacggctgcg aggagctaga gcgcctccgg gcggcgctgc
      661 agagccaggc agaagcgctg cggaggctcc tgccaccggc gcaggatggc ttcgaggtgt
      721 tgggtgcagc agagctagag gctgtgcgtg aggcctttga gaccggcggc cttgaggctg
      781 cgctgtcgtg ggtgcgctca ggcctggagc gcctgggcag cgcacggcta gacctggccg
      841 tggctggcaa ggctgacgtg ggccttgtgg tggacatgct gcttggattg gatcctggcg
      901 acccaggcgc tgcgcctgct tcggtcccca cagcacccac tcccttccca gccccagagc
      961 gcccgaatgt ggtgctctgg accgtgcctc tgggccacac gggcactgcc accaccgcgg
     1021 ccgccgcctc tcacccaacg cactacgacg ccctcatcct cgtcacccct ggggccccca
     1081 ctgagaagga ctgggcccag gtccaggcct tgctgctacc agatgcgcct cttgtctgcg
     1141 tgcgcacaga cggcgagggc gaggatccgg agtgtctggg agaaggcaag atggagaatc
     1201 ccaagggcga gagcttaaag aacgcaggtg gagggggatt ggagaatgca ctcagtaagg
     1261 gaagggagaa atgtagcgct ggatcgcaga aagcaggcag cggggaaggt cctgggaaag
     1321 ctggcagcga gggtttgcag caggttgtcg gcatgaagaa atcaggtggt ggcgactcag
     1381 agcgggccgc tgcgttaagc ccggaggacg agacgtggga ggtgctggag gaggcgccgc
     1441 cgccagtgtt ccccctacgg cctggcggac tcccagggct atgcgaatgg ctgcggcgag
     1501 cgctcccccc agcccaggca ggggcactgc tgctggcgtt gccaccagca tctcccagcg
     1561 ctgcccgaac caaggctgcg gcgttgcgag ccggggcgtg gaggccagct ctgctggcta
     1621 gtctggcggc ggcggcggca ccactcccag ggctgggctg ggcatgcgac gtggcacttc
     1681 tgcggggtca gctggcggag tggcgacggg gcctggggct ggaacccacg gcactggctc
     1741 gacgtgagcg tgccctgggc ctggcttctg gagagctggc agcgcgcgct catttcccag
     1801 gcccggtgac gcgcgccgag gtggaagcaa gactgggcgc ctgggcgggc gagggcactg
     1861 ctgggggcgc agcactgggg gctctctcct tcctgtggcc tgcgggtggt gcagcggcga
     1921 caggtggcct gggctaccga gcggctcacg gcgtcctgct gcaggctctc gatgagatgc
     1981 gggctgatgc tgaggctgtg ctggcacccc ctgagcctgc ccagtgagga gtgggagggg
     2041 gcttgggagt ccagactctg acaggggatg cctgggctta atcctgggtg cttgaagggg
     2101 atgtggactc ttgacttcca gctgggatgt gtgacttctt atcacctgga ttcagagagt
     2161 ctgggggaca ggaatcctga tttttttttt tttttttctt ttttttgtga gacgaagtct
     2221 cttgttgccc aggctggagt gcaatggcgc gacctcggct cactgcaacc tccgcctccc
     2281 gggttcaagc gattctcctg cctcagcgtc cggagtagct gggattacag gtgcctgcca
     2341 ccacacctgg ctaatttttg tatttttagt agagacgggg tttcaccatg ttggccaggc
     2401 tggcctcgaa ctcctgacct caggcgatcg acccgctccg gcctcccaaa gtgctaggat
     2461 tacaggcgtg agccaccgcc cctggccagg aatcctgata cctttgggaa ccatggtgaa
     2521 tgacatctag acccttctgt cctgaaggga gttggtggcc cagactctag cagggactat
     2581 gtctttgtct cctagggagt agaaactgga gttactggat gtttagtcct ccagggaggc
     2641 tggtagaagt cctgtttcct aattggtggg gaggtgtcca tgactgggac ctgaactcca
     2701 gtatagggga gggagacctg agcgccccag ggagctggaa ctcttgggct tcagagcctc
     2761 agagggaaac agggtctaca tttctctggg agaaaaagcc tgcacacagg tccccaagga
     2821 gcagtgggct ttgaatcttg atggggtggc ggaggcccct ggggtctgag acttccgggg
     2881 ttctaagatg gctgtggacc ttggttccta aatattgggt aaggggaggt ctgcatctgg
     2941 aggagggatc gggggcttgt gcgagaaagc tggagacttc ttgatctctc ctggggagtg
     3001 gatgggtttc tataattgcc ctccaaaagc atgtagggag ggtggtccca caaaaatgag
     3061 gtgaggtggg taagaggtct gggcatggtg ggctctggga gtagccaggg accaggaatg
     3121 aggtcttttg ggtgtggaag ggcagtaaag catacctcag agacagctcc tccaaacctt
     3181 gtattgggat cccggcaact gcctctgtga gtgtgactgg gaagggatat gactgccttc
     3241 atcttctagg tgctgagcaa ttcaggtgat ctctggggag tctgtttctc tgtctctttt
     3301 ctttaggagt ttctatcttt ttttggcctt tttctcctgg tatttaacca taacccttta
     3361 tggccttggt gttttgtgca ccttcctttt cagaagagca gctgtactgc tgcactggtc
     3421 caaacacttc tgtatggaca cctcgggtat ccccaagagg ctctgctttc tgatgtacat
     3481 agagggtgct gcattgagcc aggggcccac caaatgggtg gtcaggcact tgagaccatg
     3541 ggaatatgcc aggagtgaat gaagcaaagg cagaaaccac agtgcctgga atgttctagg
     3601 ctgctagcca catgtggggg aaaagttgca ggttacagaa ttcttcagtg tcaaaaacag
     3661 aaaaggagga tctgagaatc caagcgatag aatccctttt gtcgtagaca gaaagagcaa
     3721 agtccagaga gggcaggctt gaggcccaac agcacacagt aaggccctgt gggtctggcc
     3781 cttgcctatt ctcattcact gccccttccc actcctgtcc agcctgatag actttccttc
     3841 tttttttttt tgaaatggag tctcaccttg tcacccagtc tggagtacag ggatgtgatg
     3901 actgtagctg agatgacagg catgtgccac cacacctggc taatttttgt agtttagtag
     3961 agaagggatt tcaccctgtt ggtcaggctg gtctcgaact cctgacctca ggtgatccac
     4021 ccgactcaga ctcccaaagt gctgggatta caggtgtgag ccatcatggc cgcctgactc
     4081 tttctgatgc ctgagtggct accttgagtc ctgcctgggg acccatgcac ctgctgttct
     4141 ctttccttca aggctctact cacaacttcc tgttctactc tcaaaccttc ctgtgacggg
     4201 ctcagtcaga tctcagctca cgtatcccct cagagaggac ttcccctccc tgaccaccct
     4261 atctgaagta gctcacattc ccccactatt catttcggcc agttgagttt ccttgtagca
     4321 attattactg tcaaaaatga tcttatttat ttacctgttt attggctttt gacccgttgc
     4381 ctgtcctgtt ctctgttgtt tccccagcat ctagaacaat aggtgcctga cacaataggt
     4441 gcttcgtaaa tatttattat tattattatt attttagaga cagggtcttg ctctgttgcc
     4501 ccggctggaa tacagtggga tgatcatggc tcactgccat ctccaactcc tgggctcaaa
     4561 cgatcctccc acctccgcct acagagtagc tgggactata ggtacacagc accaaatttt
     4621 ctgtagagac gggggtcttg ctttgtagcc cacactagtg ttgaactcct ggcctcaagt
     4681 gatcctcctg ccttgatggg attacaggtg tgagccacca cacccagcct aaatgtttat
     4741 ttcattggtc agtgtcagaa ctaggattgg aatttagatt gttaatctct tgccacaaga
     4801 taggaaaatg gagcaagatg aggagaaaaa agcatttaat gggagagaac acccttgtct
     4861 gaggtcaggg acctgggaag caagcacgac tttgccactg tcactgtgtg ttacttggac
     4921 agtgccttat tttcccatct gtgaaataaa agagctggat aagaacctta gttttgagat
     4981 cctgtctccc ttaaaagctg aagacaaagg taactgatcc aagggcagac aagggatggt
     5041 accatcatct ccagcttgga ctcccactgc tgacaaaatt tgtcccttca aagttgagat
     5101 agctaccatg gggaagagca cttagttcta tactgaatgg ctccaggcat tttcatgaaa
     5161 gctctttcag ctttggggaa gaatattcat ccatatcttt accccatcat attagtgtct
     5221 aagccctgca atcaggcatg tcagccacgt gatggaatgg gagggctgca gggcagcact
     5281 gtccagtaga aacgaaatgc aagccacata tgtcatttta agttttcttt ttttgagatg
     5341 gagtttcact ccatcaccca ggctggagtg cagtggcacg atctcgcctc actgcaacct
     5401 ccgcctccca ggttcatgtg attctcctgc ctcagcctcc tgagtagctg ggattacagg
     5461 catatgccac catgcctggc taatttttgt atttttagta gagatggggt ttcaccatgt
     5521 tgatcaggct ggtctggaac tactgacctc aggccacccg ccttggcctc ccaaagtgct
     5581 gggattacag gcatgagcca ccgcgcccag ctaatttttg tatttttatt ttatttattt
     5641 atttattttt tgggagacgg agtcttgctc tgtcacccag gctggagtgc agttgtgcga
     5701 tcttggctca ctgcaacctc agcctcccaa gtagctggga ttacaggcat gcaccatcat
     5761 gcccagctaa tttttgtatt tttagtagag atggggtttc actgtgttgg ccaggctggt
     5821 cttgaactcc tgacctcagg tgatccaccg gcctcagcct cccaaagtgc tgggattata
     5881 ggcgtgagcc actgcacccg tcctaatttt tgtattttta gtagagatgg ggtttcacca
     5941 tgttggctaa gctggtctgg aactcatggc ctcaagttat ctgcccacct cagcctccca
     6001 aagtgctgag taagccaagt tttctaatag ccacattaga caagtaaaag gaaacaggtt
     6061 aaattcattt taacatgttt tacttaaccc aatgtatcca aaatagcatt tcaacatgtc
     6121 atcggttttt tagttttttt tttttttgag atagtgcttc gctttgttgc ccaggctgga
     6181 gtgcagtggc acaatctcgg ctcactgcaa cctccacctt ccaggttcaa gtgattctcc
     6241 tgcctcagcc tcccgagtag ctgggattac aggcacccgc caccatgccc actaattttt
     6301 gtatttttgg ttagagatgg ggtttcgcca tgttggccag gctagtctca aactcctgac
     6361 ctcaggtgat ccacccacct cggcctccca aagtgctagg attacaggcg tgaggcaccg
     6421 tgcctggcgt catcggtatt atttaaatga attatgttac gttcttttgt gctgtcttca
     6481 aaatctgtta tatattttac acttacacca aatctcaatt accatggtac atttttatct
     6541 gaaatgcttg acctttattt tgatttcata aaattcatag ttggagaagt agattcacat
     6601 atccaagttg ttccaattat ataatagttt tccaaaaact gagatgggtg tccatttttt
     6661 ttttaagtaa agatgcaggt ctggttatgt tgaccaagtt gctgggttgt tttgttttgt
     6721 tttgagacag agtctcactt tgtcacccag gctggagtgc agtggcatga cctcagctca
     6781 ctgcaacctc tgcctcccag gttcaactga ttctcttgca tcatcctcct gagtagctgg
     6841 gactacaggt gtatgccacc atgcctggct aattttggta tttttctcag agacggggtt
     6901 tcaccatgtt gggcatgctg gtcttgaact gctgacctca ggtgatccgc ccacctcggc
     6961 ctcccaaagt gctggtatta caggcatggg ccaccacacc tggcctcagc tgttcaatta
     7021 aaagtaaata caacttaaaa ttctatgttt cattggcagt agtgcaacat taatactgag
     7081 tagccacatg tgattagtgg ctatggtatt ggacagggaa ggtacagaat acttccatca
     7141 acatagaaaa ttctatcagt ctagctctag gggcagatag tccttccact gacttgggca
     7201 agtcactcta caaatggcat ctacctcaca tggttatggt gagaattcag cgtatgtatg
     7261 tacatgcagg cacacaatat gcacacagac acataacata gtacaccctt tcctgaaaag
     7321 cctgacacat ggagctcaaa catgagtgcc acccacccct gggcagcacc aagatggctc
     7381 tagtctgggt gcctttgtct cacccccatg cctttgctcg gagtgtgctc ctcatttttc
     7441 tgccactttg accctgtctc tgatttggtc ctgtctgaca tcactgctat atgctttgct
     7501 cctctcaatt tcctctgccc tcatgccagc aggagtcatg ccagagatca tatctgagaa
     7561 agcaagacaa ttttgtgtgt gtgtctgtgc ccatagagga gtgctggttg tgttgatata
     7621 gttgtagatt ggttgtgttt acacagttgt atatattgac acccttgagt gttatgactt
     7681 cttttggggg tggtcgcctt ttaaatcata acttttaatg ggattccatt ttagtctttg
     7741 tgaagacata aggttgttgg caggcatctg tccctgggag catccaagca gaaaagacta
     7801 agactccctt gtagacagat cactggccgc cactgaagtg tgtctgcatg gcaccacagg
     7861 gctggaagac ccttgaaggc aggaattcaa ggaaatgtat gatgaatttt ggcattgcca
     7921 tcaaaagcag aacaggcatg gaaaacttgg gtgagtgggc gagacaacct cctcaccaca
     7981 gcagagttcc atccatgcct ggataatgat ggagggattt gtgtccactg cagtggggaa
     8041 ccatgaagga cacatcaagg gtgtggttgg cctgtggtgc tctttggagg aatgaataaa
     8101 aatgaataga aatcctattg cgtgtctgtt cttttggagt ttgagggaaa agaaagatcc
     8161 ttgagatttt gactgggctg gaaacctaga ctccagcgtc tggggatagg agggatggtg
     8221 gggaatccgc tgggaaaaac tgggctgtga tcaagagaat ttatcagtat ctgagttttt
     8281 ccaccctgga aggagtgcgg gcagacttac tgtttaaaca ttgggagctt atgatggtaa
     8341 agcgccttag ttctggagcc aggtataccc attaatgacc ccaactgggc cagcctttct
     8401 gtagccatgc ccttggattg ttgctctcct tctaggtttg actatgtggt ttgcttcagc
     8461 cactagaaca atagcaaaca tgatacaagc agaggcttgg aaagtgctta tgcggccggg
     8521 tgtggtggct cacacctata atcccagcac tttgggaggc cagggcgggc agatcacaag
     8581 gtcaggagat cgagaccatc ctggctaaca cagtgaaacc ccgtctctct actaaaaata
     8641 caaaaaatta gctgggtgtg gtggtgcaca cctgtagtcc cagctactcg ggaggctgag
     8701 gcaggagaat agcttgaacc tgggaggcgg aggttgtagt gagctgagac tgcgccgctg
     8761 cactccagcc tgggcaacag agcgagactt ctctcaaaaa aaaaaaacca aagtgcttat
     8821 gcactgggac ttcctctctt gctccccttg ggacccctac caccactgcc acatccaaac
     8881 cccgggctgg ctgagcatgg tggcatatgg gtataaaccc ataatcccag cacttaggga
     8941 ggcaaaggtg gaagaatttc atgagcccag gagatcgaga ctagcctgag caacatggca
     9001 agacccccat ctctacaaaa aagcaacaac aacagaatta gccagatgtg gtggtgtgca
     9061 cctgtggtcc caactacatg ggggaggctg aggcaagtgg attgtttgag cccaggaagt
     9121 cgaggctgaa gtgagctatg atggctccac tgcactccag cctgggtgac agagcaagac
     9181 aatgtctaaa aaaataaaaa gaaggaaaga aaaggaaaag atctgggcta acctgctggg
     9241 taataaaggg aaaagagaca catggctccg tcatccttga tccctgccac ccatagccaa
     9301 ccaacctctg aaacagagct ccctagctga taggcagctg aacccagctg agaccagcaa
     9361 aagaactgcc cagctgatcc cagaccaagt tgcaacccag agaatcatta actaaatagg
     9421 tgattgttct aaaccactaa attttggagt ggtttgttat gtagcaaaag caactaatac
     9481 agacttgttc tctctgtgtg tgatgtggtc tctttctccc caacaacatg acccaatgat
     9541 taaaatctta aattctgcca ctttttagct gtgtgactgc caatgtgaca gccttctgag
     9601 cctctgatgt ctcctgaaaa cagagatgtg aataatagtg cctatgacat agagttgtga
     9661 aaataaaatg aaaaacagct tcttaa
//
LOCUS       NM_001007563            3566 bp    mRNA    linear   PRI 01-JAN-2023
DEFINITION  Homo sapiens insulin like growth factor binding protein like 1
            (IGFBPL1), mRNA.
ACCESSION   NM_001007563
VERSION     NM_001007563.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3566)
  AUTHORS   Butti E, Cattaneo S, Bacigaluppi M, Cambiaghi M, Scotti GM,
            Brambilla E, Ruffini F, Sferruzza G, Ripamonti M, Simeoni F,
            Cacciaguerra L, Zanghi A, Quattrini A, Fesce R, Panina-Bordignon P,
            Giannese F, Cittaro D, Kuhlmann T, D'Adamo P, Rocca MA, Taverna S
            and Martino G.
  TITLE     Neural precursor cells tune striatal connectivity through the
            release of IGFBPL1
  JOURNAL   Nat Commun 13 (1), 7579 (2022)
   PUBMED   36482070
  REMARK    GeneRIF: Neural precursor cells tune striatal connectivity through
            the release of IGFBPL1. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3566)
  AUTHORS   Liu Y, Zhang M, He T, Yang W, Wang L, Zhang L and Guo M.
  TITLE     Epigenetic silencing of IGFBPL1 promotes esophageal cancer growth by
            activating PI3K-AKT signaling
  JOURNAL   Clin Epigenetics 12 (1), 22 (2020)
   PUBMED   32041673
  REMARK    GeneRIF: Epigenetic silencing of IGFBPL1 promotes esophageal cancer
            growth by activating PI3K-AKT signaling. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 3566)
  AUTHORS   Guo C, Cho KS, Li Y, Tchedre K, Antolik C, Ma J, Chew J, Utheim TP,
            Huang XA, Yu H, Malik MTA, Anzak N and Chen DF.
  TITLE     IGFBPL1 Regulates Axon Growth through IGF-1-mediated Signaling
            Cascades
  JOURNAL   Sci Rep 8 (1), 2054 (2018)
   PUBMED   29391597
  REMARK    GeneRIF: Expression of IGFBPL1 correlates with RGC axon growth, and
            acute knockdown of IGFBPL1 with shRNA or IGFBPL1 knockout in vivo
            impaired RGC axon growth. IGFBPL1 binds IGF-1, induces calcium
            signaling mTOR phosphorylation. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3566)
  AUTHORS   Kutsukake M, Ishihara R, Yoshie M, Kogo H and Tamura K.
  TITLE     Involvement of insulin-like growth factor-binding protein-related
            protein 1 in decidualization of human endometrial stromal cells
  JOURNAL   Mol Hum Reprod 13 (10), 737-743 (2007)
   PUBMED   17884839
  REMARK    GeneRIF: These results suggest that insulin-like growth
            factor-binding protein-related protein 1 may play a role in
            decidualization of human endometrial stromal cells.
REFERENCE   5  (bases 1 to 3566)
  AUTHORS   Smith P, Nicholson LJ, Syed N, Payne A, Hiller L, Garrone O, Occelli
            M, Gasco M and Crook T.
  TITLE     Epigenetic inactivation implies independent functions for
            insulin-like growth factor binding protein (IGFBP)-related protein 1
            and the related IGFBPL1 in inhibiting breast cancer phenotypes
  JOURNAL   Clin Cancer Res 13 (14), 4061-4068 (2007)
   PUBMED   17634530
  REMARK    GeneRIF: Expression of IGFBPL1 is regulated by aberrant
            hypermethylation in breast cancer, implying that inactivation of
            these genes is involved in the pathogenesis of this malignancy.
REFERENCE   6  (bases 1 to 3566)
  AUTHORS   Cai Z, Chen HT, Boyle B, Rupp F, Funk WD and Dedera DA.
  TITLE     Identification of a novel insulin-like growth factor binding protein
            gene homologue with tumor suppressor like properties
  JOURNAL   Biochem Biophys Res Commun 331 (1), 261-266 (2005)
   PUBMED   15845387
  REMARK    GeneRIF: IGFBP-RP4 may be a novel putative tumor suppressor protein.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.261087.1,
            SRR1660803.135280.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142670,
            SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000377694.2/ ENSP00000366923.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL135785.10.
            On Nov 23, 2018 this sequence version replaced NM_001007563.2.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3566
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.1"
     gene            1..3566
                     /gene="IGFBPL1"
                     /gene_synonym="bA113O24.1; IGFBP-RP4; IGFBPRP4"
                     /note="insulin like growth factor binding protein like 1"
                     /db_xref="GeneID:347252"
                     /db_xref="HGNC:HGNC:20081"
                     /db_xref="MIM:610413"
     CDS             31..867
                     /gene="IGFBPL1"
                     /gene_synonym="bA113O24.1; IGFBP-RP4; IGFBPRP4"
                     /note="insulin-like growth factor binding protein related
                     protein 4; IGFBP-related protein 10; insulin-like growth
                     factor-binding-related protein 4"
                     /codon_start=1
                     /product="insulin-like growth factor-binding protein-like 1
                     precursor"
                     /protein_id="NP_001007564.1"
                     /db_xref="CCDS:CCDS35017.1"
                     /db_xref="GeneID:347252"
                     /db_xref="HGNC:HGNC:20081"
                     /db_xref="MIM:610413"
                     /translation="MPRLSLLLPLLLLLLLPLLPPLSPSLGIRDVGGRRPKCGPCRPEG
                     CPAPAPCPAPGISALDECGCCARCLGAEGASCGGRAGGRCGPGLVCASQAAGAAPEGTG
                     LCVCAQRGTVCGSDGRSYPSVCALRLRARHTPRAHPGHLHKARDGPCEFAPVVVVPPRS
                     VHNVTGAQVGLSCEVRAVPTPVITWRKVTKSPEGTQALEELPGDHVNIAVQVRGGPSDH
                     EATAWILINPLRKEDEGVYQCHAANMVGEAESHSTVTVLDLSKYRSFHFPAPDDRM"
     sig_peptide     31..105
                     /gene="IGFBPL1"
                     /gene_synonym="bA113O24.1; IGFBP-RP4; IGFBPRP4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    526..528
                     /gene="IGFBPL1"
                     /gene_synonym="bA113O24.1; IGFBP-RP4; IGFBPRP4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8WX77.1); glycosylation site"
     regulatory      3547..3552
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGFBPL1"
                     /gene_synonym="bA113O24.1; IGFBP-RP4; IGFBPRP4"
                     /note="hexamer: AATAAA"
     polyA_site      3566
                     /gene="IGFBPL1"
                     /gene_synonym="bA113O24.1; IGFBP-RP4; IGFBPRP4"
                     /note="major polyA site"
ORIGIN
        1 agaggcgccg ccgctgtccc ggagcaagcc atgccgcgct tgtctctgct cttgccgctg
       61 ctgcttctgc tgctgctgcc gctgctgccg ccgctgtccc cgagccttgg gatccgcgac
      121 gtgggcggcc ggcgccccaa gtgtggtccg tgccggccag agggctgccc ggcgcctgcg
      181 ccctgcccgg cgcccgggat ctcggcgctc gacgagtgcg gctgctgcgc ccgctgcctg
      241 ggagccgagg gcgcgagctg cgggggccgc gccggcgggc gctgtggccc cggcctggta
      301 tgcgcgagcc aggccgctgg ggcagcgccc gagggcaccg ggctctgcgt gtgcgcgcag
      361 cgcggcaccg tctgcggctc cgacggtcgc tcgtacccca gcgtctgcgc gctgcgcctg
      421 cgcgctcggc acacgccccg cgcgcacccc ggtcacctgc acaaggcgcg cgacggccct
      481 tgcgagttcg ctcctgtggt cgtcgttcct ccccgaagtg ttcacaacgt caccggggcg
      541 caggtgggcc tgtcctgtga agtgagggct gtgcctaccc cagtcatcac gtggagaaag
      601 gtcacgaagt cccctgaggg cacccaagca ctggaggagc tgcctgggga ccatgtcaat
      661 atagctgtcc aagtgcgagg gggcccttct gaccatgagg ccacggcctg gattttgatc
      721 aaccccctgc gaaaggagga tgagggtgtg taccagtgcc atgcagccaa catggtggga
      781 gaggctgagt cccacagcac agtgacggtt ctagatctga gtaaatacag gagcttccac
      841 ttcccagctc ccgatgaccg catgtgatgg agaaatggtc ttagaaacat tgatcatggg
      901 atgatggaaa agtcaaataa cggatctttg tgcttcatga agagttggaa aacctgtgtg
      961 tgtagatgac cccttttgtg tgtttttaaa aattagatgc aaactagatc tgtatgcaga
     1021 tgtagttttt agcagggcaa acagtgagaa acggatttgc atgtggcttt tttatacttt
     1081 tgaaatgaat tgttccatga gaagtctttt tgtaattatt ctcttccagg gagatcacag
     1141 aacggcatgt ttgcaatttc gaaagggctc gtgtcagctg tgactcttta cctcatttgt
     1201 ctatgaccta ttagtggtgc tctgtgactt agtgtgtgtt gtagaaggag ggatgagggt
     1261 cccagctgtc ctctgcctga ctgtaacttg ctgtgtgacc tgaacagatc ccttcccctc
     1321 tctgggccct ggtcccttca tctgtgagta tggcatttta actggatgtt atcaatgtcc
     1381 cttttagccc tgccatccta gattaagatg gccttttggg aaaataacag gaagtgtggt
     1441 cttagtgttc tttctaaaat ggtattccct cagaaacaaa ttccattgct ttaccccaac
     1501 gtgtggacag ctggctgtag ctcttctatt cctaactttt tccctttgaa ggagatttag
     1561 ttttaggtgg gatgctttac cagactcagg agcgccttgg ctgggtcttt ggagaccaga
     1621 gcatccattt gttagcctag cattctcttt tttaaaattt tattttgaga cagggtctcg
     1681 ctctatcacc caggctggag tgcagtggcg tgatcatggc tcactgcaac ctccactttc
     1741 tgggctcgag tgatcgttcc acctcagcct cctgagtagc tgggaccaca ggcatgcccc
     1801 accacaccca gctatttttt tttttttttt tttttttttt gtagagacag ggtctcccta
     1861 tgttgccgcc caggctggtc tcaaattcct atgctcaaat gatcctcctg ccttggcctc
     1921 ccaaagtgct gggattatag gcatcagcca ctgtgcttgg cctagcctag cattctctaa
     1981 acaggtggtt agaagcggtg gataccaggc ttctgacgat caaattgtaa aaaaaggggt
     2041 caggtgttat ctccagactg tggaattaga ttgtagtaga atatatttta cctacaaaca
     2101 ttttgacctc acccaagagt aaggctctct tttttttctt ttttaatgaa aaaagaaagg
     2161 agaatatttg ctatcttatc ttaaaaaaat agatccttag gtgattacaa ttttaaaata
     2221 agaattgaga gcccttacta tgcacagtcc tttaagttca taaagcttga tcccaactct
     2281 gggagatggg gcaggacagg tgttaatgtc cctgccttta gcagatgaag aaaccaggct
     2341 ctgagaggag aagctacttg cccaaggcct gaaggcctct gaaagaggag cagagctcag
     2401 ggcacctggc cctccttggt cccctctcta ctccacggtg ctgctactca gggtcatctc
     2461 aaaactatgt aaaggcagat gttgccaatc cacaggcttc agggactctt atcaagactc
     2521 atcccaactt ttaaggcaca ctttcacacc gctcacattg tgcattacat tttggagtcc
     2581 ttgttggaag tgaactttcc gcctgtaagc ctgccattcc atgtctaata tattgggatg
     2641 gcatcacctt ctgtactatg cagcagaagg agactggcct gggattctgg aaacatgaga
     2701 tccatttgca tattaatccc cggctcgctg tgtgaccctg agcaagtctc cttcactttc
     2761 tgtgcctcag tgtccttatt tgagtaaaaa gggaataaaa ctagatgagt ggttttcaaa
     2821 ctttaaaaca ctggaagctc tctttgaaaa caaaagatga gaattgaaat ggatggcact
     2881 ggaagctgtt cttgtctact ggggtttgga gctgccaggg gacctgctca catccactcc
     2941 tcactcagcc cctcccgccc ctcccttctc cacgcactgt gactgacttc catgtgtgaa
     3001 ggcctgcagt taattctcct gtgtcttgaa tggttgggag atgagttggt cagaccctta
     3061 gtgaaatgat gtgggaagga acaggaatgc tgtggctctg aagaaggtag tagaacatcc
     3121 cacacctgct aataagcaca ttttgcaaac tcagttgact cacctcagat ttgcctagtg
     3181 aaaactgaag ggctggatgt agacccagag agcagggtgg acagagccca tgctggaagt
     3241 actgagcatc aggactgtat ggggctggct ttagcatcat cattctgtgc aaagacaaat
     3301 aattaatgtc acactgtctg aaattttcac caaaaccaaa aaggcgcatt aacatgattg
     3361 ttccaacctc atggtttttc aagtgtgagc gcccagagac ctcttcagag gctaagagag
     3421 catgcgctgc cacagctgtt agcatttgga gacgtaatta caatgccccc actccccgca
     3481 ccaaacctgg gtttttctac cgtttttgta gatgtcatga tgtcacgacc cctgcaccct
     3541 gaaaaaaata aatgttttta aggaca
//
LOCUS       NM_001007595            1581 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens C2 calcium dependent domain containing 4B (C2CD4B),
            mRNA.
ACCESSION   NM_001007595
VERSION     NM_001007595.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1581)
  AUTHORS   Ma Y, Ashander LM, Appukuttan B, Ryan FJ, Tan ACR, Matthews JM,
            Michael MZ, Lynn DJ and Smith JR.
  TITLE     Selective Transcription Factor Blockade Reduces Human Retinal
            Endothelial Cell Expression of Intercellular Adhesion Molecule-1 and
            Leukocyte Binding
  JOURNAL   Int J Mol Sci 24 (4), 3304 (2023)
   PUBMED   36834715
  REMARK    GeneRIF: Selective Transcription Factor Blockade Reduces Human
            Retinal Endothelial Cell Expression of Intercellular Adhesion
            Molecule-1 and Leukocyte Binding. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1581)
  AUTHORS   Han F, Qian L, Zhang Y, Liu P, Li R and Chen M.
  TITLE     C2CD4A/B variants in the predisposition of lung cancer in the
            Chinese Han population
  JOURNAL   Funct Integr Genomics 22 (3), 331-340 (2022)
   PUBMED   35212842
  REMARK    GeneRIF: C2CD4A/B variants in the predisposition of lung cancer in
            the Chinese Han population.
REFERENCE   3  (bases 1 to 1581)
  AUTHORS   Kycia I, Wolford BN, Huyghe JR, Fuchsberger C, Vadlamudi S, Kursawe
            R, Welch RP, Albanus RD, Uyar A, Khetan S, Lawlor N, Bolisetty M,
            Mathur A, Kuusisto J, Laakso M, Ucar D, Mohlke KL, Boehnke M,
            Collins FS, Parker SCJ and Stitzel ML.
  TITLE     A Common Type 2 Diabetes Risk Variant Potentiates Activity of an
            Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A
            and C2CD4B Expression
  JOURNAL   Am J Hum Genet 102 (4), 620-635 (2018)
   PUBMED   29625024
  REMARK    GeneRIF: rs7163757 contributes to genetic risk of islet dysfunction
            and type 2 diabetes by increasing NFAT-mediated islet enhancer
            activity and modulating C2CD4B, and possibly C2CD4A, expression in
            (patho)physiologic states.
REFERENCE   4  (bases 1 to 1581)
  AUTHORS   Mehta ZB, Fine N, Pullen TJ, Cane MC, Hu M, Chabosseau P, Meur G,
            Velayos-Baeza A, Monaco AP, Marselli L, Marchetti P and Rutter GA.
  TITLE     Changes in the expression of the type 2 diabetes-associated gene
            VPS13C in the beta-cell are associated with glucose intolerance in
            humans and mice
  JOURNAL   Am J Physiol Endocrinol Metab 311 (2), E488-E507 (2016)
   PUBMED   27329800
  REMARK    GeneRIF: The present data thus provide evidence for a limited role
            for changes in VPS13C expression in conferring altered type 2
            diabetes risk at this locus, particularly in females, and suggest
            that C2CD4A, but not C2CD4B, may also be involved.
REFERENCE   5  (bases 1 to 1581)
  AUTHORS   Hara K, Fujita H, Johnson TA, Yamauchi T, Yasuda K, Horikoshi M,
            Peng C, Hu C, Ma RC, Imamura M, Iwata M, Tsunoda T, Morizono T,
            Shojima N, So WY, Leung TF, Kwan P, Zhang R, Wang J, Yu W, Maegawa
            H, Hirose H, Kaku K, Ito C, Watada H, Tanaka Y, Tobe K, Kashiwagi A,
            Kawamori R, Jia W, Chan JC, Teo YY, Shyong TE, Kamatani N, Kubo M,
            Maeda S and Kadowaki T.
  CONSRTM   DIAGRAM consortium
  TITLE     Genome-wide association study identifies three novel loci for type 2
            diabetes
  JOURNAL   Hum Mol Genet 23 (1), 239-246 (2014)
   PUBMED   23945395
REFERENCE   6  (bases 1 to 1581)
  AUTHORS   Boesgaard TW, Grarup N, Jorgensen T, Borch-Johnsen K, Hansen T and
            Pedersen O.
  CONSRTM   Meta-Analysis of Glucose and Insulin-Related Trait Consortium
            (MAGIC)
  TITLE     Variants at DGKB/TMEM195, ADRA2A, GLIS3 and C2CD4B loci are
            associated with reduced glucose-stimulated beta cell function in
            middle-aged Danish people
  JOURNAL   Diabetologia 53 (8), 1647-1655 (2010)
   PUBMED   20419449
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1581)
  AUTHORS   Ingelsson E, Langenberg C, Hivert MF, Prokopenko I, Lyssenko V,
            Dupuis J, Magi R, Sharp S, Jackson AU, Assimes TL, Shrader P,
            Knowles JW, Zethelius B, Abbasi FA, Bergman RN, Bergmann A, Berne C,
            Boehnke M, Bonnycastle LL, Bornstein SR, Buchanan TA, Bumpstead SJ,
            Bottcher Y, Chines P, Collins FS, Cooper CC, Dennison EM, Erdos MR,
            Ferrannini E, Fox CS, Graessler J, Hao K, Isomaa B, Jameson KA,
            Kovacs P, Kuusisto J, Laakso M, Ladenvall C, Mohlke KL, Morken MA,
            Narisu N, Nathan DM, Pascoe L, Payne F, Petrie JR, Sayer AA, Schwarz
            PE, Scott LJ, Stringham HM, Stumvoll M, Swift AJ, Syvanen AC, Tuomi
            T, Tuomilehto J, Tonjes A, Valle TT, Williams GH, Lind L, Barroso I,
            Quertermous T, Walker M, Wareham NJ, Meigs JB, McCarthy MI, Groop L,
            Watanabe RM and Florez JC.
  CONSRTM   MAGIC investigators
  TITLE     Detailed physiologic characterization reveals diverse mechanisms for
            novel genetic Loci regulating glucose and insulin metabolism in
            humans
  JOURNAL   Diabetes 59 (5), 1266-1275 (2010)
   PUBMED   20185807
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1581)
  AUTHORS   Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson
            AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM,
            Magi R, Morris AP, Randall J, Johnson T, Elliott P, Rybin D,
            Thorleifsson G, Steinthorsdottir V, Henneman P, Grallert H, Dehghan
            A, Hottenga JJ, Franklin CS, Navarro P, Song K, Goel A, Perry JR,
            Egan JM, Lajunen T, Grarup N, Sparso T, Doney A, Voight BF,
            Stringham HM, Li M, Kanoni S, Shrader P, Cavalcanti-Proenca C,
            Kumari M, Qi L, Timpson NJ, Gieger C, Zabena C, Rocheleau G,
            Ingelsson E, An P, O'Connell J, Luan J, Elliott A, McCarroll SA,
            Payne F, Roccasecca RM, Pattou F, Sethupathy P, Ardlie K, Ariyurek
            Y, Balkau B, Barter P, Beilby JP, Ben-Shlomo Y, Benediktsson R,
            Bennett AJ, Bergmann S, Bochud M, Boerwinkle E, Bonnefond A,
            Bonnycastle LL, Borch-Johnsen K, Bottcher Y, Brunner E, Bumpstead
            SJ, Charpentier G, Chen YD, Chines P, Clarke R, Coin LJ, Cooper MN,
            Cornelis M, Crawford G, Crisponi L, Day IN, de Geus EJ, Delplanque
            J, Dina C, Erdos MR, Fedson AC, Fischer-Rosinsky A, Forouhi NG, Fox
            CS, Frants R, Franzosi MG, Galan P, Goodarzi MO, Graessler J, Groves
            CJ, Grundy S, Gwilliam R, Gyllensten U, Hadjadj S, Hallmans G,
            Hammond N, Han X, Hartikainen AL, Hassanali N, Hayward C, Heath SC,
            Hercberg S, Herder C, Hicks AA, Hillman DR, Hingorani AD, Hofman A,
            Hui J, Hung J, Isomaa B, Johnson PR, Jorgensen T, Jula A, Kaakinen
            M, Kaprio J, Kesaniemi YA, Kivimaki M, Knight B, Koskinen S, Kovacs
            P, Kyvik KO, Lathrop GM, Lawlor DA, Le Bacquer O, Lecoeur C, Li Y,
            Lyssenko V, Mahley R, Mangino M, Manning AK, Martinez-Larrad MT,
            McAteer JB, McCulloch LJ, McPherson R, Meisinger C, Melzer D, Meyre
            D, Mitchell BD, Morken MA, Mukherjee S, Naitza S, Narisu N, Neville
            MJ, Oostra BA, Orru M, Pakyz R, Palmer CN, Paolisso G, Pattaro C,
            Pearson D, Peden JF, Pedersen NL, Perola M, Pfeiffer AF, Pichler I,
            Polasek O, Posthuma D, Potter SC, Pouta A, Province MA, Psaty BM,
            Rathmann W, Rayner NW, Rice K, Ripatti S, Rivadeneira F, Roden M,
            Rolandsson O, Sandbaek A, Sandhu M, Sanna S, Sayer AA, Scheet P,
            Scott LJ, Seedorf U, Sharp SJ, Shields B, Sigurethsson G, Sijbrands
            EJ, Silveira A, Simpson L, Singleton A, Smith NL, Sovio U, Swift A,
            Syddall H, Syvanen AC, Tanaka T, Thorand B, Tichet J, Tonjes A,
            Tuomi T, Uitterlinden AG, van Dijk KW, van Hoek M, Varma D,
            Visvikis-Siest S, Vitart V, Vogelzangs N, Waeber G, Wagner PJ,
            Walley A, Walters GB, Ward KL, Watkins H, Weedon MN, Wild SH,
            Willemsen G, Witteman JC, Yarnell JW, Zeggini E, Zelenika D,
            Zethelius B, Zhai G, Zhao JH, Zillikens MC, Borecki IB, Loos RJ,
            Meneton P, Magnusson PK, Nathan DM, Williams GH, Hattersley AT,
            Silander K, Salomaa V, Smith GD, Bornstein SR, Schwarz P, Spranger
            J, Karpe F, Shuldiner AR, Cooper C, Dedoussis GV, Serrano-Rios M,
            Morris AD, Lind L, Palmer LJ, Hu FB, Franks PW, Ebrahim S, Marmot M,
            Kao WH, Pankow JS, Sampson MJ, Kuusisto J, Laakso M, Hansen T,
            Pedersen O, Pramstaller PP, Wichmann HE, Illig T, Rudan I, Wright
            AF, Stumvoll M, Campbell H, Wilson JF, Bergman RN, Buchanan TA,
            Collins FS, Mohlke KL, Tuomilehto J, Valle TT, Altshuler D, Rotter
            JI, Siscovick DS, Penninx BW, Boomsma DI, Deloukas P, Spector TD,
            Frayling TM, Ferrucci L, Kong A, Thorsteinsdottir U, Stefansson K,
            van Duijn CM, Aulchenko YS, Cao A, Scuteri A, Schlessinger D, Uda M,
            Ruokonen A, Jarvelin MR, Waterworth DM, Vollenweider P, Peltonen L,
            Mooser V, Abecasis GR, Wareham NJ, Sladek R, Froguel P, Watanabe RM,
            Meigs JB, Groop L, Boehnke M, McCarthy MI, Florez JC and Barroso I.
  CONSRTM   DIAGRAM Consortium; GIANT Consortium; Global BPgen Consortium;
            Anders Hamsten on behalf of Procardis Consortium; MAGIC
            investigators
  TITLE     New genetic loci implicated in fasting glucose homeostasis and their
            impact on type 2 diabetes risk
  JOURNAL   Nat Genet 42 (2), 105-116 (2010)
   PUBMED   20081858
  REMARK    GeneRIF: Meta-analysis and genome-wide association study of
            gene-disease association. (HuGE Navigator) Erratum:[Nat Genet.2010
            May;42(5):464]
REFERENCE   9  (bases 1 to 1581)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   10  (bases 1 to 1581)
  AUTHORS   Warton K, Foster NC, Gold WA and Stanley KK.
  TITLE     A novel gene family induced by acute inflammation in endothelial
            cells
  JOURNAL   Gene 342 (1), 85-95 (2004)
   PUBMED   15527968
  REMARK    GeneRIF: NLF2 may play a role in regulating genes which control
            cellular architecture.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279831.11469.1, BM023388.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380392.4/ ENSP00000369755.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC126323.6, DA584890.1, BM127548.1, BM023530.1, AW292865.1,
            BM974537.1 and BX109954.1.
            On Nov 22, 2018 this sequence version replaced NM_001007595.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1581
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.2"
     gene            1..1581
                     /gene="C2CD4B"
                     /gene_synonym="FAM148B; NLF2"
                     /note="C2 calcium dependent domain containing 4B"
                     /db_xref="GeneID:388125"
                     /db_xref="HGNC:HGNC:33628"
                     /db_xref="MIM:610344"
     misc_feature    114..116
                     /gene="C2CD4B"
                     /gene_synonym="FAM148B; NLF2"
                     /note="upstream in-frame stop codon"
     CDS             132..1226
                     /gene="C2CD4B"
                     /gene_synonym="FAM148B; NLF2"
                     /note="family with sequence similarity 148, member B;
                     nuclear localized factor 2"
                     /codon_start=1
                     /product="C2 calcium-dependent domain-containing protein
                     4B"
                     /protein_id="NP_001007596.2"
                     /db_xref="CCDS:CCDS32259.1"
                     /db_xref="GeneID:388125"
                     /db_xref="HGNC:HGNC:33628"
                     /db_xref="MIM:610344"
                     /translation="MRLLEKLCSSAAGSSAPKPAFAKVLTPNRIPEFCIPPRLPAPCTL
                     ESPIRAAAVPRRCAAESDLWPRAADEDAGRTDWDPRSQAALSLPHLPRVRTTYGFCALL
                     ESPHTRRKESLLLGGPPAPRPRAHSCGGGGGPDAPLGTLCGPRGPGPATPAAPGGPRLP
                     QDALAAGPRRCRLLRVPDGLLSRALRAGRSRRLARVRSVSSGNEDEERRAGSESPARAP
                     SSSPLSSRAPLPERLEAKGTVALGRAGDALRLAAEYCPGTRRLRLRLLRAESLFGGAPG
                     PRAVRCRLSLVLRPPGTARWQCSAVVGRSRKASFDQDFCFDGLSEDEVRRLAVRVKARD
                     EGRGRDRGRLLGQGELSLGALLLL"
     misc_feature    468..629
                     /gene="C2CD4B"
                     /gene_synonym="FAM148B; NLF2"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NLJ0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    711..833
                     /gene="C2CD4B"
                     /gene_synonym="FAM148B; NLF2"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NLJ0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1558..1563
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2CD4B"
                     /gene_synonym="FAM148B; NLF2"
                     /note="hexamer: AATAAA"
     polyA_site      1581
                     /gene="C2CD4B"
                     /gene_synonym="FAM148B; NLF2"
                     /note="major polyA site"
ORIGIN
        1 gcagtactga aggtggcgcc tcggcagcgg gctagaggcc actggcactg agcttgcaac
       61 cagatccaga gacactgaag aagagagaaa ggcgcacctc ttcccgccac tcctagcccc
      121 agcctccaag gatgcggctc ctcgagaaac tctgttcctc ggccgcaggc agctccgcgc
      181 cgaagcccgc cttcgccaaa gtgctcacgc cgaatcgcat ccccgaattc tgcatcccgc
      241 cgcggctgcc ggccccttgc acgctcgagt ctccaatccg ggccgccgcc gtgccccggc
      301 gctgcgccgc tgaaagcgac ctgtggcccc gcgcggcaga cgaggacgcc ggccgcacgg
      361 actgggaccc gcgctcgcag gcagcgctgt cactgccgca cctgccccgt gtgcgcacca
      421 cctacggctt ctgcgcgctg ctcgagagcc cgcacacgcg ccgcaaggag tcgctcctgc
      481 tcgggggccc gcccgcgccc cggccccggg cccacagctg cggcggcggc ggaggcccgg
      541 acgcccccct ggggaccctg tgcggcccgc gaggtccggg cccggccacc cccgcggccc
      601 ccggcggtcc ccgcctgccc caggacgcgc tcgctgcggg gccccgccgc tgccgcctcc
      661 tgcgcgtccc cgacgggctg ctgagtcgcg cgctgcgggc tggaaggagt cgccgcctgg
      721 cccgcgtccg ctccgtctcc agcgggaacg aggacgagga gcgccgcgcg ggatccgagt
      781 ccccggcccg ggccccctcc tcgagcccgc tgtcatccag ggccccgctt cctgagcgcc
      841 tggaggccaa gggcaccgtg gctctgggcc gcgccggcga cgccctgcgc ctggctgctg
      901 agtactgtcc gggaacccgg cgtctccgcc tccggctgct ccgcgcggag agcctgttcg
      961 gaggcgcccc cgggccccgc gccgtccgct gccgcctcag cctcgtcctg cggccgccgg
     1021 gcactgcgcg ttggcaatgc agcgctgtgg tggggcgcag ccgcaaggcc tcctttgacc
     1081 aggacttttg cttcgacggc ctctcggaag acgaggtgcg ccgcctggcc gttcgcgtca
     1141 aggcccggga tgagggtcgc ggccgggatc ggggccgcct gctgggccag ggtgagctgt
     1201 ccctgggcgc cctcctgctg ctctgagggc ccagccctcc ccggggcgct ctgccctgga
     1261 gactccggac actgacagcc gcgtggtaca gaataaacgt tatttatttt tttatttatg
     1321 atactgcttt attgacgttt tacttcctca ccatccacat ttgtcatcgt ctattggtaa
     1381 agaagaaaaa gataatgact ccctgttctg ttcacaggac ccccatatct ctttccagac
     1441 catttttgca ttccaaggaa aaatgggttg gcttgggact gggagagaaa ggaagtacac
     1501 ccatctgcat tgtttttaat tccttccggt tttctatcaa tgttacagtt tttttttaat
     1561 aaagcaagtt attcattcag a
//
LOCUS       NM_001008               1189 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S4 Y-linked 1 (RPS4Y1), mRNA.
ACCESSION   NM_001008
VERSION     NM_001008.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1189)
  AUTHORS   Spena S, Cordiglieri C, Garagiola I and Peyvandi F.
  TITLE     Development of a Specific Monoclonal Antibody to Detect Male Cells
            Expressing the RPS4Y1 Protein
  JOURNAL   Int J Mol Sci 22 (4), 2001 (2021)
   PUBMED   33670450
  REMARK    GeneRIF: Development of a Specific Monoclonal Antibody to Detect
            Male Cells Expressing the RPS4Y1 Protein. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 1189)
  AUTHORS   Fan Z, Zhao W, Fan S, Li C, Qiao J and Xu Y.
  TITLE     Identification of Potential Biomarkers for Intervertebral Disc
            Degeneration Using the Genome-Wide Expression Analysis
  JOURNAL   J Comput Biol 27 (9), 1341-1349 (2020)
   PUBMED   31904996
  REMARK    GeneRIF: Identification of Potential Biomarkers for Intervertebral
            Disc Degeneration Using the Genome-Wide Expression Analysis.
REFERENCE   3  (bases 1 to 1189)
  AUTHORS   Chang R, Chen L, Su G, Du L, Qin Y, Xu J, Tan H, Zhou C, Cao Q, Yuan
            G, Kijlstra A and Yang P.
  TITLE     Identification of Ribosomal Protein S4, Y-Linked 1 as a cyclosporin
            A plus corticosteroid resistance gene
  JOURNAL   J Autoimmun 112, 102465 (2020)
   PUBMED   32331925
  REMARK    GeneRIF: Identification of Ribosomal Protein S4, Y-Linked 1 as a
            cyclosporin A plus corticosteroid resistance gene.
REFERENCE   4  (bases 1 to 1189)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1189)
  AUTHORS   Sun AG, Wang J, Shan YZ, Yu WJ, Li X, Cong CH and Wang X.
  TITLE     Identifying distinct candidate genes for early Parkinson's disease
            by analysis of gene expression in whole blood
  JOURNAL   Neuro Endocrinol Lett 35 (5), 398-404 (2014)
   PUBMED   25275262
  REMARK    GeneRIF: DLG1, XIST, DDX3Y and RPS4Y1 genes can classify samples
            into different group clearly, and they are regarded as high
            confidence distinct gene biomarkers of Parkinson disease.
REFERENCE   6  (bases 1 to 1189)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   7  (bases 1 to 1189)
  AUTHORS   Weller PA, Critcher R, Goodfellow PN, German J and Ellis NA.
  TITLE     The human Y chromosome homologue of XG: transcription of a naturally
            truncated gene
  JOURNAL   Hum Mol Genet 4 (5), 859-868 (1995)
   PUBMED   7633446
REFERENCE   8  (bases 1 to 1189)
  AUTHORS   Zinn AR, Alagappan RK, Brown LG, Wool I and Page DC.
  TITLE     Structure and function of ribosomal protein S4 genes on the human
            and mouse sex chromosomes
  JOURNAL   Mol Cell Biol 14 (4), 2485-2492 (1994)
   PUBMED   8139551
REFERENCE   9  (bases 1 to 1189)
  AUTHORS   Watanabe M, Zinn AR, Page DC and Nishimoto T.
  TITLE     Functional equivalence of human X- and Y-encoded isoforms of
            ribosomal protein S4 consistent with a role in Turner syndrome
  JOURNAL   Nat Genet 4 (3), 268-271 (1993)
   PUBMED   8358435
REFERENCE   10  (bases 1 to 1189)
  AUTHORS   Fisher EM, Beer-Romero P, Brown LG, Ridley A, McNeil JA, Lawrence
            JB, Willard HF, Bieber FR and Page DC.
  TITLE     Homologous ribosomal protein genes on the human X and Y chromosomes:
            escape from X inactivation and possible implications for Turner
            syndrome
  JOURNAL   Cell 63 (6), 1205-1218 (1990)
   PUBMED   2124517
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.90032.1,
            SRR5189667.397489.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000250784.13/ ENSP00000250784.7
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BF242790.1, BC010286.1, AI167386.1 and AC006040.3.
            On Nov 23, 2018 this sequence version replaced NM_001008.3.
            Summary: Cytoplasmic ribosomes, organelles that catalyze protein
            synthesis, consist of a small 40S subunit and a large 60S subunit.
            Together these subunits are composed of 4 RNA species and
            approximately 80 structurally distinct proteins. This gene encodes
            ribosomal protein S4, a component of the 40S subunit. Ribosomal
            protein S4 is the only ribosomal protein known to be encoded by
            more than one gene, namely this gene and ribosomal protein S4,
            X-linked (RPS4X). The 2 isoforms encoded by these genes are not
            identical, but are functionally equivalent. Ribosomal protein S4
            belongs to the S4E family of ribosomal proteins. It has been
            suggested that haploinsufficiency of the ribosomal protein S4 genes
            plays a role in Turner syndrome; however, this hypothesis is
            controversial. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1189
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yp11.2"
     gene            1..1189
                     /gene="RPS4Y1"
                     /gene_synonym="RPS4Y; S4"
                     /note="ribosomal protein S4 Y-linked 1"
                     /db_xref="GeneID:6192"
                     /db_xref="HGNC:HGNC:10425"
                     /db_xref="MIM:470000"
     misc_feature    1
                     /gene="RPS4Y1"
                     /gene_synonym="RPS4Y; S4"
                     /note="predominant transcription initiation site"
     CDS             24..815
                     /gene="RPS4Y1"
                     /gene_synonym="RPS4Y; S4"
                     /note="ribosomal protein S4Y; 40S ribosomal protein S4, Y;
                     small ribosomal subunit protein eS4; ribosomal protein S4,
                     Y-linked; small ribosomal subunit protein eS4, Y"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS4, Y isoform 1"
                     /protein_id="NP_000999.1"
                     /db_xref="CCDS:CCDS14773.1"
                     /db_xref="GeneID:6192"
                     /db_xref="HGNC:HGNC:10425"
                     /db_xref="MIM:470000"
                     /translation="MARGPKKHLKRVAAPKHWMLDKLTGVFAPRPSTGPHKLRECLPLI
                     VFLRNRLKYALTGDEVKKICMQRFIKIDGKVRVDVTYPAGFMDVISIEKTGEHFRLVYD
                     TKGRFAVHRITVEEAKYKLCKVRKITVGVKGIPHLVTHDARTIRYPDPVIKVNDTVQID
                     LGTGKIINFIKFDTGNLCMVIGGANLGRVGVITNRERHPGSFDVVHVKDANGNSFATRL
                     SNIFVIGNGNKPWISLPRGKGIRLTVAEERDKRLATKQSSG"
     regulatory      851..856
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS4Y1"
                     /gene_synonym="RPS4Y; S4"
                     /note="hexamer: AATAAA"
     polyA_site      872
                     /gene="RPS4Y1"
                     /gene_synonym="RPS4Y; S4"
                     /note="major polyA site"
     regulatory      988..993
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS4Y1"
                     /gene_synonym="RPS4Y; S4"
                     /note="hexamer: AATAAA"
     polyA_site      1010
                     /gene="RPS4Y1"
                     /gene_synonym="RPS4Y; S4"
     regulatory      1166..1171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS4Y1"
                     /gene_synonym="RPS4Y; S4"
                     /note="hexamer: ATTAAA"
     polyA_site      1189
                     /gene="RPS4Y1"
                     /gene_synonym="RPS4Y; S4"
ORIGIN
        1 ctcttccgtc gcagagtttc gccatggccc ggggccccaa gaagcactta aagcgtgttg
       61 cagcgccgaa gcattggatg cttgacaaac taacgggtgt atttgcacct cgtccatcga
      121 caggtcccca caagctgagg gaatgtcttc ctctgatcgt cttcctcagg aatagactca
      181 agtatgcgtt gactggagat gaggtaaaga agatatgtat gcaacgtttc atcaaaattg
      241 atggcaaggt tcgagtggat gtcacatacc ctgctggatt catggatgtc atcagcatcg
      301 agaagacagg tgaacatttc cgcctggtct atgacaccaa gggccgtttt gctgttcacc
      361 gcatcacagt ggaagaggca aagtacaagt tgtgcaaagt gaggaagatt actgtgggag
      421 tgaagggaat ccctcacctg gtgactcatg atgctcgaac catccgctac ccagatcctg
      481 tcatcaaggt gaacgatact gtgcagattg atttagggac tggcaagata atcaacttta
      541 tcaaatttga tacaggcaat ttgtgtatgg tgattggtgg agccaacctc ggtcgtgttg
      601 gtgtgatcac caacagggaa agacatcctg gttcttttga tgtggtgcat gtgaaggatg
      661 ccaatggcaa cagctttgcc acgaggcttt ccaacatttt tgtcattggc aatggcaata
      721 aaccttggat ttccctgccc aggggaaagg gcattcgact tactgttgct gaagagagag
      781 ataagaggct ggccaccaaa cagagcagtg gctaaattgc agtagcagca tatctttttt
      841 tctttgcaca aataaacagt gaattctcgt ttcttaatgt gttttttccc ccttgtggat
      901 aatagtaggg tttgaatttg ctcatgattt tggcactgtc ttaagatctc taggaatacc
      961 acctatactt cctctgaccc tccagtaaat aaacctttgc ttccctcata catgttaccc
     1021 acaccatctc tgtgggcaga gtgatggagt agcattccaa aacgaagtac aaaaaacgta
     1081 tgacatttca gaaaggacgg cattcttttg tggaagctat gggagatggt cttagttttc
     1141 ttgcttgttc acattattgg tagaaattaa atcctgtggc tgtaggaaa
//
LOCUS       NM_001008212            3479 bp    mRNA    linear   PRI 05-JUL-2023
DEFINITION  Homo sapiens optineurin (OPTN), transcript variant 3, mRNA.
ACCESSION   NM_001008212
VERSION     NM_001008212.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3479)
  AUTHORS   Fukushi M, Ohsawa R, Okinaka Y, Oikawa D, Kiyono T, Moriwaki M, Irie
            T, Oda K, Kamei Y, Tokunaga F, Sotomaru Y, Maruyama H, Kawakami H
            and Sakaguchi T.
  TITLE     Optineurin deficiency impairs autophagy to cause interferon beta
            overproduction and increased survival of mice following viral
            infection
  JOURNAL   PLoS One 18 (6), e0287545 (2023)
   PUBMED   37352136
  REMARK    GeneRIF: Optineurin deficiency impairs autophagy to cause interferon
            beta overproduction and increased survival of mice following viral
            infection. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3479)
  AUTHORS   Liu S, van Dinther M, Hagenaars SC, Gu Y, Kuipers TB, Mei H,
            Gomez-Puerto MC, Mesker WE and Ten Dijke P.
  TITLE     Differential optineurin expression controls TGFbeta signaling and is
            a key determinant for metastasis of triple negative breast cancer
  JOURNAL   Int J Cancer 152 (12), 2594-2606 (2023)
   PUBMED   36823950
  REMARK    GeneRIF: Differential optineurin expression controls TGFbeta
            signaling and is a key determinant for metastasis of triple negative
            breast cancer.
REFERENCE   3  (bases 1 to 3479)
  AUTHORS   Sayyad Z, Kaveti S, Bhattacharjee D, Vedagiri D, Jain N and Swarup
            G.
  TITLE     A glaucoma-associated OPTN polymorphism, M98K sensitizes retinal
            cells to endoplasmic reticulum stress and tumour necrosis factor
            alpha
  JOURNAL   FEBS J 290 (12), 3110-3127 (2023)
   PUBMED   36705529
  REMARK    GeneRIF: A glaucoma-associated OPTN polymorphism, M98K sensitizes
            retinal cells to endoplasmic reticulum stress and tumour necrosis
            factor alpha.
REFERENCE   4  (bases 1 to 3479)
  AUTHORS   Moharir SC, Sirohi K and Swarup G.
  TITLE     Regulation of transferrin receptor trafficking by optineurin and its
            disease-associated mutants
  JOURNAL   Prog Mol Biol Transl Sci 194, 67-78 (2023)
   PUBMED   36631201
  REMARK    GeneRIF: Regulation of transferrin receptor trafficking by
            optineurin and its disease-associated mutants. Review article
REFERENCE   5  (bases 1 to 3479)
  AUTHORS   Hu X and Wu H.
  TITLE     SUMOylation of optineurin is critical for inhibiting interferon beta
            production
  JOURNAL   Biochem Biophys Res Commun 623, 189-195 (2022)
   PUBMED   35921711
  REMARK    GeneRIF: SUMOylation of optineurin is critical for inhibiting
            interferon beta production.
REFERENCE   6  (bases 1 to 3479)
  AUTHORS   Fong KS and de Couet HG.
  TITLE     Novel proteins interacting with the leucine-rich repeat domain of
            human flightless-I identified by the yeast two-hybrid system
  JOURNAL   Genomics 58 (2), 146-157 (1999)
   PUBMED   10366446
REFERENCE   7  (bases 1 to 3479)
  AUTHORS   Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF and MacDonald
            ME.
  TITLE     Huntingtin interacts with a family of WW domain proteins
  JOURNAL   Hum Mol Genet 7 (9), 1463-1474 (1998)
   PUBMED   9700202
REFERENCE   8  (bases 1 to 3479)
  AUTHORS   Sarfarazi M, Child A, Stoilova D, Brice G, Desai T, Trifan OC,
            Poinoosawmy D and Crick RP.
  TITLE     Localization of the fourth locus (GLC1E) for adult-onset primary
            open-angle glaucoma to the 10p15-p14 region
  JOURNAL   Am J Hum Genet 62 (3), 641-652 (1998)
   PUBMED   9497264
REFERENCE   9  (bases 1 to 3479)
  AUTHORS   Li Y, Kang J and Horwitz MS.
  TITLE     Interaction of an adenovirus E3 14.7-kilodalton protein with a novel
            tumor necrosis factor alpha-inducible cellular protein containing
            leucine zipper domains
  JOURNAL   Mol Cell Biol 18 (3), 1601-1610 (1998)
   PUBMED   9488477
REFERENCE   10  (bases 1 to 3479)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301623
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.228417.1,
            SRR1660809.111304.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378747.8/ ENSP00000368021.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI552635.1, AF420373.1,
            BC032762.1, AF420371.1, AF070533.1 and AL355355.25.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001008212.1.
            Summary: This gene encodes the coiled-coil containing protein
            optineurin. Optineurin may play a role in normal-tension glaucoma
            and adult-onset primary open angle glaucoma. Optineurin interacts
            with adenovirus E3-14.7K protein and may utilize tumor necrosis
            factor-alpha or Fas-ligand pathways to mediate apoptosis,
            inflammation or vasoconstriction. Optineurin may also function in
            cellular morphogenesis and membrane trafficking, vesicle
            trafficking, and transcription activation through its interactions
            with the RAB8, huntingtin, and transcription factor IIIA proteins.
            Alternative splicing results in multiple transcript variants
            encoding the same protein. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3479
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p13"
     gene            1..3479
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="optineurin"
                     /db_xref="GeneID:10133"
                     /db_xref="HGNC:HGNC:17142"
                     /db_xref="MIM:602432"
     misc_feature    262..264
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="upstream in-frame stop codon"
     CDS             304..2037
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="nemo-related protein; tumor necrosis factor
                     alpha-inducible cellular protein containing leucine zipper
                     domains; transcrption factor IIIA-interacting protein;
                     Huntingtin interacting protein L; FIP-2; HIP-7; huntingtin
                     yeast partner L; E3-14.7K-interacting protein;
                     huntingtin-interacting protein 7; huntingtin-interacting
                     protein L; optic neuropathy-inducing protein; transcription
                     factor IIIA-interacting protein"
                     /codon_start=1
                     /product="optineurin"
                     /protein_id="NP_001008213.1"
                     /db_xref="CCDS:CCDS7094.1"
                     /db_xref="GeneID:10133"
                     /db_xref="HGNC:HGNC:17142"
                     /db_xref="MIM:602432"
                     /translation="MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMK
                     ELLTENHQLKEAMKLNNQAMKGRFEELSAWTEKQKEERQFFEIQSKEAKERLMALSHEN
                     EKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGIVSE
                     LQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGA
                     KNYFEHEELTVSQLLLCLREGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGS
                     TEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKLSEAELMKKRLQEKCQALERK
                     NSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQE
                     HNNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDL
                     ETMTILRAQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEM
                     QSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGEVLPDIDTLQIHVMDCI
                     I"
     misc_feature    304..399
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CV9.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    475..930
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CV9.3);
                     Region: Interaction with Rab8"
     misc_feature    604..732
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CV9.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    829..846
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CV9.3);
                     Region: LIR"
     misc_feature    832..834
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="Phosphoserine, by TBK1.
                     /evidence=ECO:0000269|PubMed:21617041,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q96CV9.3);
                     phosphorylation site"
     misc_feature    859..930
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CV9.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    895..897
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96CV9.3); phosphorylation site"
     misc_feature    1084..1194
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CV9.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1327..1329
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96CV9.3); phosphorylation site"
     misc_feature    1534..2034
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CV9.3);
                     Region: Interaction with HD"
     misc_feature    1537..1863
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CV9.3);
                     Region: Interaction with MYO6.
                     /evidence=ECO:0000269|PubMed:15837803"
     misc_feature    1723..1740
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96CV9.3);
                     Region: UBAN"
     misc_feature    1879..1881
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96CV9.3); phosphorylation site"
     polyA_site      2093
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="major polyA site"
     regulatory      3448..3453
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="hexamer: AAGAAA"
     regulatory      3456..3461
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="hexamer: ATTAAA"
     polyA_site      3456
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
     polyA_site      3479
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
ORIGIN
        1 agtcccggct gccccctccg ccaccgccgc cgcccgccgg caggttccct ggtcagcgtc
       61 ccatcccggt cgggagttct ctccaggcgg cacgatgccg aggaaacagt gaccctgagc
      121 gaagccaagc cgggcggcag gtgtggcttt gatagctggt ggtgccactt cctggccttg
      181 gatgagccgt acgcctctgt aaacccaact tcctcacctt tgaaacagct gcctggttca
      241 gcattaatga agattagtca gtgacaggcc tggtgtgctg agtccgcaca tagaacttct
      301 gcaatgtccc atcaacctct cagctgcctc actgaaaagg aggacagccc cagtgaaagc
      361 acaggaaatg gaccccccca cctggcccac ccaaacctgg acacgtttac cccggaggag
      421 ctgctgcagc agatgaaaga gctcctgacc gagaaccacc agctgaaaga agccatgaag
      481 ctaaataatc aagccatgaa agggagattt gaggagcttt cggcctggac agagaaacag
      541 aaggaagaac gccagttttt tgagatacag agcaaagaag caaaagagcg tctaatggcc
      601 ttgagtcatg agaatgagaa attgaaggaa gagcttggaa aactaaaagg gaaatcagaa
      661 aggtcatctg aggaccccac tgatgactcc aggcttccca gggccgaagc ggagcaggaa
      721 aaggaccagc tcaggaccca ggtggtgagg ctacaagcag agaaggcaga cctgttgggc
      781 atcgtgtctg aactgcagct caagctgaac tccagcggct cctcagaaga ttcctttgtt
      841 gaaattagga tggctgaagg agaagcagaa gggtcagtaa aagaaatcaa gcatagtcct
      901 gggcccacga gaacagtctc cactggcacg gcattgtcta aatataggag cagatctgca
      961 gatggggcca agaattactt cgaacatgag gagttaactg tgagccagct cctgctgtgc
     1021 ctaagggaag ggaatcagaa ggtggagaga cttgaagttg cactcaagga ggccaaagaa
     1081 agagtttcag attttgaaaa gaaaacaagt aatcgttctg agattgaaac ccagacagag
     1141 gggagcacag agaaagagaa tgatgaagag aaaggcccgg agactgttgg aagcgaagtg
     1201 gaagcactga acctccaggt gacatctctg tttaaggagc ttcaagaggc tcatacaaaa
     1261 ctcagcgaag ctgagctaat gaagaagaga cttcaagaaa agtgtcaggc ccttgaaagg
     1321 aaaaattctg caattccatc agagttgaat gaaaagcaag agcttgttta tactaacaaa
     1381 aagttagagc tacaagtgga aagcatgcta tcagaaatca aaatggaaca ggctaaaaca
     1441 gaggatgaaa agtccaaatt aactgtgcta cagatgacac acaacaagct tcttcaagaa
     1501 cataataatg cattgaaaac aattgaggaa ctaacaagaa aagagtcaga aaaagtggac
     1561 agggcagtgc tgaaggaact gagtgaaaaa ctggaactgg cagagaaggc tctggcttcc
     1621 aaacagctgc aaatggatga aatgaagcaa accattgcca agcaggaaga ggacctggaa
     1681 accatgacca tcctcagggc tcagatggaa gtttactgtt ctgattttca tgctgaaaga
     1741 gcagcgagag agaaaattca tgaggaaaag gagcaactgg cattgcagct ggcagttctg
     1801 ctgaaagaga atgatgcttt cgaagacgga ggcaggcagt ccttgatgga gatgcagagt
     1861 cgtcatgggg cgagaacaag tgactctgac cagcaggctt accttgttca aagaggagct
     1921 gaggacaggg actggcggca acagcggaat attccgattc attcctgccc caagtgtgga
     1981 gaggttctgc ctgacataga cacgttacag attcacgtga tggattgcat catttaagtg
     2041 ttgatgtatc acctccccaa aactgttggt aaatgtcaga ttttttcctc caagagttgt
     2101 gcttttgtgt tatttgtttt cactcaaata ttttgcctca ttattcttgt tttaaaagaa
     2161 agaaaacagg ccgggcacag tggctcatgc ctgtaatccc agcactttgg gaggtcgagg
     2221 tgggtggatc acttggggtc agggtttgag accagcctgg ccaacatggc ggaaccctgt
     2281 ctctaccaaa attacaaaaa ttagccgagc atggtggcgc atgcctgtag tcgcagctac
     2341 tcgcgaggtt gaggcaggag aattgcttga acccaggaag tggcagttgc agtgagccga
     2401 gacgacacca ctgcactcca gcctgggtga cagagggaga ctctgtctcg aaagaaagaa
     2461 agaaaaaaag gaaggaagga gaaggaagga aggagaagaa aaggtacctg ttctacgtag
     2521 aacacctttg gtggagttcc atcaactcgc aaagtagaat ccttacctac tactcttctg
     2581 ataataattt taatattttt tatgtttggt tgatgcgagc agctgcactg ctcatgcagt
     2641 tagctagcat gtgacatcat gtgacaaagt tcatgtaatt agatggaaga aacctcactg
     2701 attaatttta agaacctttt agggatgcag gaacaatgaa gtggccacag tatgtgctgt
     2761 ttttgaagca tttttaaaaa cgaattgtag ttgtttttct tcatttaaaa tggatctgtt
     2821 ggaggttatg tgtgtatgtt gtagttttat tgcagccaca ataattttac caaagttttc
     2881 acataggcag ttagccttta cttaatatca agacaagtga aaaaatattg gcatcgatga
     2941 aaccgataac attggcctca ttggatttct ttacccattc acagtgtaaa gaagttacct
     3001 tcatgctttc attgtacctg caggcctgtg ggcttgtaca gtagataatt aatttctaaa
     3061 aagaacagct gcctattttc ttcctaggtt aggttatatc ttcataatca caagaattag
     3121 tgatggcaaa ataaaatttt gcttatgaat cttttacatt gtttatatat gattaatatc
     3181 atcatatata ttttctgtat taagctcatt tggcttcatt taagctgtat acttagtcat
     3241 atatctttca ttagttctat ggatatgagc agatcccttt actggagccc agtatgtgct
     3301 gtgtgagtta gaagtcattc ttgctgagaa ggtgaatagg tagggatttg ccttgttttg
     3361 taagtctaca atttgccaag agtaaataac actggaccag ctgtaaaagt aaacagtgtg
     3421 tttatgcatt gagatactaa agcatttaag aaaaaattaa aagatctctt ttgtttaaa
//
LOCUS       NM_001008215            1770 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens cytochrome c oxidase assembly factor 5 (COA5), mRNA.
ACCESSION   NM_001008215
VERSION     NM_001008215.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1770)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1770)
  AUTHORS   Szklarczyk R, Wanschers BF, Cuypers TD, Esseling JJ, Riemersma M,
            van den Brand MA, Gloerich J, Lasonder E, van den Heuvel LP,
            Nijtmans LG and Huynen MA.
  TITLE     Iterative orthology prediction uncovers new mitochondrial proteins
            and identifies C12orf62 as the human ortholog of COX14, a protein
            involved in the assembly of cytochrome c oxidase
  JOURNAL   Genome Biol 13 (2), R12 (2012)
   PUBMED   22356826
  REMARK    GeneRIF: Ortholog of fungal COX assembly protein PET191 Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 1770)
  AUTHORS   Huigsloot M, Nijtmans LG, Szklarczyk R, Baars MJ, van den Brand MA,
            Hendriksfranssen MG, van den Heuvel LP, Smeitink JA, Huynen MA and
            Rodenburg RJ.
  TITLE     A mutation in C2orf64 causes impaired cytochrome c oxidase assembly
            and mitochondrial cardiomyopathy
  JOURNAL   Am J Hum Genet 88 (4), 488-493 (2011)
   PUBMED   21457908
  REMARK    GeneRIF: C2orf64 is essential for complex IV assembly, and C2orf64
            mutational analysis should be considered for complex IV deficient
            patients, in particular those with hypertrophic cardiomyopathy
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.239150.1,
            SRR1660805.204594.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467144,
            SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000328709.8/ ENSP00000330730.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK131034.1, BC047722.1,
            AI002968.1 and AC010134.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001008215.2.
            Summary: This gene encodes an ortholog of yeast Pet191, which in
            yeast is a subunit of a large oligomeric complex associated with
            the mitochondrial inner membrane, and required for the assembly of
            the cytochrome c oxidase complex. Mutations in this gene are
            associated with mitochondrial complex IV deficiency, a disorder of
            the mitochondrial respiratory chain with heterogeneous clinical
            manifestations, ranging from isolated myopathy to a severe disease
            affecting several tissues and organs. [provided by RefSeq, Dec
            2011].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1770
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..1770
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="cytochrome c oxidase assembly factor 5"
                     /db_xref="GeneID:493753"
                     /db_xref="HGNC:HGNC:33848"
                     /db_xref="MIM:613920"
     misc_feature    21..23
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="upstream in-frame stop codon"
     CDS             108..332
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="protein C2orf64"
                     /codon_start=1
                     /product="cytochrome c oxidase assembly factor 5"
                     /protein_id="NP_001008216.1"
                     /db_xref="CCDS:CCDS33257.1"
                     /db_xref="GeneID:493753"
                     /db_xref="HGNC:HGNC:33848"
                     /db_xref="MIM:613920"
                     /translation="MPKYYEDKPQGGACAGLKEDLGACLLQSDCVVQEGKSPRQCLKEG
                     YCNSLKYAFFECKRSVLDNRARFRGRKGY"
     misc_feature    195..230
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WW8.1);
                     Region: Cx10C motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01150"
     misc_feature    216..218
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86WW8.1); phosphorylation site"
     misc_feature    246..278
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WW8.1);
                     Region: Cx9C motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01150"
     regulatory      573..578
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="hexamer: AATAAA"
     polyA_site      601
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="major polyA site"
     regulatory      1662..1667
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="hexamer: AGTAAA"
     polyA_site      1682
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="major polyA site"
     regulatory      1686..1691
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="hexamer: TATAAA"
     polyA_site      1710
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
     regulatory      1741..1746
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
                     /note="hexamer: AATACA"
     polyA_site      1770
                     /gene="COA5"
                     /gene_synonym="6330578E17Rik; C2orf64; CEMCOX3; MC4DN9;
                     Pet191"
ORIGIN
        1 gccgctggct tccggtcccc tgagactggg gcctcgctcg ctcccgaccc ggttgcaagt
       61 gttgcggtgg gagaaagtcg cgtccgcatc ggaggggaag cgccgtcatg cctaagtatt
      121 atgaggacaa gccgcagggc ggcgcgtgcg cgggcctgaa ggaggacctg ggcgcgtgtc
      181 tgctgcagtc ggactgtgtg gtccaggaag gaaaatcacc tcggcagtgt ttgaaggaag
      241 gatactgcaa ctctttgaag tacgcatttt ttgagtgtaa aagatcagtg ttggataaca
      301 gggcaagatt cagaggaaga aaaggatatt gatgcattat gttgaagcca acatggaaaa
      361 caacaaatat tttccctggt cattaacaca aagaagccaa aacaggaaac atacttttta
      421 ctacatctgt ttggttggac cagatttccc ctccgtggaa cactgaagaa agtggatgag
      481 ttgttttcga atatgtataa agtaaatgat tctcttgatc caagttattt ttagaagaaa
      541 aacctaattg aacaggtatg ggttgggagc ataataaatg tgttttgaga attgttctaa
      601 agcacagaaa atggaaagac tgttatttgc aaacttgact cttcaattga attacccaat
      661 tagtacaggc cactgatttg actgacacag tcgataacat gcagcctatc cagaaggtgt
      721 ctgttgggaa agtttaggat aaaacttttt ctttagttca gtcttttcct gtctagttct
      781 aaaatgaatt gtgtttgatt ccttagagaa gaaatacttc atttgtgctc tgattcactg
      841 aagtaataac ctcagcactt taatagcgtc cacaggcata gctgatgcta ggccccagat
      901 tgtgttgccc aggctcttta ccatcatctt cggactgttt ttgtttcctg gttacatttt
      961 cagtctggcc cgctctacat aatgggccag tgtcagctcc aagtccacat ccttattatc
     1021 catgattcaa aagggagaga gagaacttcc tttttcaggg tccacaaatc aaatctataa
     1081 aaggactctg gtcttcccag gatcacctgc ccttgcattg gaccagtccc tgtggaagag
     1141 gggatggggg cctgtgatct tggccaggcc tgggctatct atctgcactg tcattgctaa
     1201 ctcctgtcag aatcacatgg atgagtagtg ggctgaatcc caaaaggaaa ggggtttaga
     1261 gcaagtggaa acaacagatg ttcactatag aaagcaagaa tgaaaaccat gaagtggttg
     1321 aagattagcc ttacagtaat tttattctga tcacttaata cagtagagtc aaacaggaat
     1381 ccaagtttcc aactttatta tttttggcac tgaagaatta caaagaactc tagcgtcttt
     1441 atacctccgt ggttcactgg agttaaagca atcggggcgt tgtacagctc acttgagttt
     1501 ttaaaggttc tactaaaaag tgagaattcc acagcaatat gggtcattgt tgcagaatat
     1561 cacaaaggtc tgttgtgtat actccttttc accaggaaag ggacaataat agtttttttc
     1621 aatgtatata tatataagtg atctaacttt ttattaataa aagtaaacaa ctctaaaatg
     1681 tatattataa agccctgtca tctttgttga gtaatagctt tattgagctt tatttggaga
     1741 aatacacata ccgtaaaatt cacactgaaa
//
LOCUS       NM_001008216            1516 bp    mRNA    linear   PRI 15-MAR-2023
DEFINITION  Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 2,
            mRNA.
ACCESSION   NM_001008216
VERSION     NM_001008216.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1516)
  AUTHORS   Marin-Quilez A, Di Buduo CA, Benito R, Balduini A, Rivera J and
            Bastida JM.
  TITLE     GALE variants associated with syndromic manifestations,
            macrothrombocytopenia, bleeding, and platelet dysfunction
  JOURNAL   Platelets 34 (1), 2176699 (2023)
   PUBMED   36846897
  REMARK    GeneRIF: GALE variants associated with syndromic manifestations,
            macrothrombocytopenia, bleeding, and platelet dysfunction.
REFERENCE   2  (bases 1 to 1516)
  AUTHORS   Marin-Quilez A, Di Buduo CA, Diaz-Ajenjo L, Abbonante V, Vuelta E,
            Soprano PM, Miguel-Garcia C, Santos-Minguez S, Serramito-Gomez I,
            Ruiz-Sala P, Penarrubia MJ, Pardal E, Hernandez-Rivas JM,
            Gonzalez-Porras JR, Garcia-Tunon I, Benito R, Rivera J, Balduini A
            and Bastida JM.
  TITLE     Novel variants in GALE cause syndromic macrothrombocytopenia by
            disrupting glycosylation and thrombopoiesis
  JOURNAL   Blood 141 (4), 406-421 (2023)
   PUBMED   36395340
  REMARK    GeneRIF: Novel variants in GALE cause syndromic
            macrothrombocytopenia by disrupting glycosylation and
            thrombopoiesis.
REFERENCE   3  (bases 1 to 1516)
  AUTHORS   Markovitz R, Owen N, Satter LF, Kirk S, Mahoney DH, Bertuch AA and
            Scaglia F.
  TITLE     Expansion of the clinical phenotype of GALE deficiency
  JOURNAL   Am J Med Genet A 185 (10), 3118-3121 (2021)
   PUBMED   34159722
  REMARK    GeneRIF: Expansion of the clinical phenotype of GALE deficiency.
REFERENCE   4  (bases 1 to 1516)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1516)
  AUTHORS   de Souza MFD, da Silva Filho AF, de Barros Albuquerque AP, Quirino
            MWL, de Souza Albuquerque MS, Cordeiro MF, Martins MR, da Rocha
            Pitta I, Lucena-Araujo AR, da Rocha Pitta MG and de Melo Rego MJB.
  TITLE     Overexpression of UDP-Glucose 4-Epimerase Is Associated with
            Differentiation Grade of Gastric Cancer
  JOURNAL   Dis Markers 2019, 6325326 (2019)
   PUBMED   31827638
  REMARK    GeneRIF: High GALE expression is associated with differentiation
            Grade of Gastric Cancer. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1516)
  AUTHORS   Fridovich-Keil,J., Bean,L., He,M. and Schroer,R.
  TITLE     Epimerase Deficiency Galactosemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   21290786
REFERENCE   7  (bases 1 to 1516)
  AUTHORS   Schulpis KH, Papaconstantinou ED, Koidou A, Michelakakis H,
            Tzamouranis J, Patsouras A and Shin Y.
  TITLE     UDP galactose-4-epimerase deficiency in a 5.5-year-old girl with
            unilateral cataract
  JOURNAL   J Inherit Metab Dis 16 (5), 903-904 (1993)
   PUBMED   8295413
REFERENCE   8  (bases 1 to 1516)
  AUTHORS   Henderson,M.J., Holton,J.B. and MacFaul,R.
  TITLE     Further observations in a case of uridine diphosphate
            galactose-4-epimerase deficiency with a severe clinical presentation
  JOURNAL   J Inherit Metab Dis 6 (1), 17-20 (1983)
   PUBMED   6408303
REFERENCE   9  (bases 1 to 1516)
  AUTHORS   Holton,J.B., Gillett,M.G., MacFaul,R. and Young,R.
  TITLE     Galactosaemia: a new severe variant due to uridine diphosphate
            galactose-4-epimerase deficiency
  JOURNAL   Arch Dis Child 56 (11), 885-887 (1981)
   PUBMED   7305435
REFERENCE   10  (bases 1 to 1516)
  AUTHORS   Benn,P.A., Shows,T.B., D'Ancona,G.G., Croce,C.M., Orkwiszewski,K.G.
            and Mellman,W.J.
  TITLE     Assignment of a gene for uridine diphosphate galactose-4-epimerase
            to human chromosome 1 by somatic cell hybridization, with evidence
            for a regional assignment to 1pter yields 1p21
  JOURNAL   Cytogenet Cell Genet 24 (3), 138-142 (1979)
   PUBMED   477411
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.346090.1,
            SRR5189658.83711.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2154405
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000617979.5/ ENSP00000483375.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL530475.3 and BC050685.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001008216.1.
            Summary: This gene encodes UDP-galactose-4-epimerase which
            catalyzes two distinct but analogous reactions: the epimerization
            of UDP-glucose to UDP-galactose, and the epimerization of
            UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The
            bifunctional nature of the enzyme has the important metabolic
            consequence that mutant cells (or individuals) are dependent not
            only on exogenous galactose, but also on exogenous
            N-acetylgalactosamine as a necessary precursor for the synthesis of
            glycoproteins and glycolipids. Mutations in this gene result in
            epimerase-deficiency galactosemia, also referred to as galactosemia
            type 3, a disease characterized by liver damage, early-onset
            cataracts, deafness and cognitive disability, with symptoms ranging
            from mild ('peripheral' form) to severe ('generalized' form).
            Multiple alternatively spliced transcripts encoding the same
            protein have been identified. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1516
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..1516
                     /gene="GALE"
                     /gene_synonym="SDR1E1"
                     /note="UDP-galactose-4-epimerase"
                     /db_xref="GeneID:2582"
                     /db_xref="HGNC:HGNC:4116"
                     /db_xref="MIM:606953"
     CDS             120..1166
                     /gene="GALE"
                     /gene_synonym="SDR1E1"
                     /EC_number="5.1.3.2"
                     /EC_number="5.1.3.7"
                     /note="galactowaldenase; UDP-GalNAc 4-epimerase; UDP-GlcNAc
                     4-epimerase; UDP-N-acetylglucosamine 4-epimerase;
                     UDP-N-acetylgalactosamine 4-epimerase; UDP
                     galactose-4'-epimerase; galactose-4-epimerase, UDP-; short
                     chain dehydrogenase/reductase family 1E, member 1;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="UDP-glucose 4-epimerase"
                     /protein_id="NP_001008217.1"
                     /db_xref="CCDS:CCDS242.1"
                     /db_xref="GeneID:2582"
                     /db_xref="HGNC:HGNC:4116"
                     /db_xref="MIM:606953"
                     /translation="MAEKVLVTGGAGYIGSHTVLELLEAGYLPVVIDNFHNAFRGGGSL
                     PESLRRVQELTGRSVEFEEMDILDQGALQRLFKKYSFMAVIHFAGLKAVGESVQKPLDY
                     YRVNLTGTIQLLEIMKAHGVKNLVFSSSATVYGNPQYLPLDEAHPTGGCTNPYGKSKFF
                     IEEMIRDLCQADKTWNAVLLRYFNPTGAHASGCIGEDPQGIPNNLMPYVSQVAIGRREA
                     LNVFGNDYDTEDGTGVRDYIHVVDLAKGHIAALRKLKEQCGCRIYNLGTGTGYSVLQMV
                     QAMEKASGKKIPYKVVARREGDVAACYANPSLAQEELGWTAALGLDRMCEDLWRWQKQN
                     PSGFGTQA"
     regulatory      1490..1495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALE"
                     /gene_synonym="SDR1E1"
                     /note="hexamer: AATAAA"
     polyA_site      1516
                     /gene="GALE"
                     /gene_synonym="SDR1E1"
                     /note="major polyA site"
ORIGIN
        1 gcggtgcctc tgcagcaagc gtggggcgcg ggaacccgag caggactctc cagtcctcag
       61 tcaccttgga caaagaagtg tggatcctca gattccatct tttccaactc caaggtgcca
      121 tggcagagaa ggtgctggta acaggtgggg ctggctacat tggcagccac acggtgctgg
      181 agctgctgga ggctggctac ttgcctgtgg tcatcgataa cttccataat gccttccgtg
      241 gagggggctc cctgcctgag agcctgcggc gggtccagga gctgacaggc cgctctgtgg
      301 agtttgagga gatggacatt ttggaccagg gagccctaca gcgtctcttc aaaaagtaca
      361 gctttatggc ggtcatccac tttgcggggc tcaaggccgt gggcgagtcg gtgcagaagc
      421 ctctggatta ttacagagtt aacctgaccg ggaccatcca gcttctggag atcatgaagg
      481 cccacggggt gaagaacctg gtgttcagca gctcagccac tgtgtacggg aacccccagt
      541 acctgcccct tgatgaggcc caccccacgg gtggttgtac caacccttac ggcaagtcca
      601 agttcttcat cgaggaaatg atccgggacc tgtgccaggc agacaagact tggaacgcag
      661 tgctgctgcg ctatttcaac cccacaggtg cccatgcctc tggctgcatt ggtgaggatc
      721 cccagggcat acccaacaac ctcatgcctt atgtctccca ggtggcgatc gggcgacggg
      781 aggccctgaa tgtctttggc aatgactatg acacagagga tggcacaggt gtccgggatt
      841 acatccatgt cgtggatctg gccaagggcc acattgcagc cttaaggaag ctgaaagaac
      901 agtgtggctg ccggatctac aacctgggca cgggcacagg ctattcagtg ctgcagatgg
      961 tccaggctat ggagaaggcc tctgggaaga agatcccgta caaggtggtg gcacggcggg
     1021 aaggtgatgt ggcagcctgt tacgccaacc ccagcctggc ccaagaggag ctggggtgga
     1081 cagcagcctt agggctggac aggatgtgtg aggatctctg gcgctggcag aagcagaatc
     1141 cttcaggctt tggcacgcaa gcctgaggac cctcccctac caaggaccag gaaaagcagc
     1201 agctgcctgc tctccagcct ctggcaggaa ctcagggccc tggagctgct ggggccaagc
     1261 caaggcctcc cctacctcaa accccagctg ggcccgctta gcccaccagg catgaggcca
     1321 agggctccac tgaccaggag gccgaggtct ctaactctta tcttccacag ggtccaagag
     1381 ttcatcagga cccccaagag tgagtgaggg ggcaaggctc tggcacaaaa cctcctcctc
     1441 ccaggcactc atttatattg ctctgaaaga gctttccaaa gtatttaaaa ataaaaacaa
     1501 gttttcttac actggg
//
LOCUS       NM_001008218            1785 bp    mRNA    linear   PRI 01-JUN-2023
DEFINITION  Homo sapiens amylase alpha 1B (AMY1B), transcript variant 1, mRNA.
ACCESSION   NM_001008218
VERSION     NM_001008218.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1785)
  AUTHORS   Barber TM, Bhatti AA, Elder PJD, Ball SP, Calvez R, Ramsden DB,
            Cuthbertson DJ, Pfeiffer AF, Burnett D and Weickert MO.
  TITLE     AMY1 Gene Copy Number Correlates With Glucose Absorption and
            Visceral Fat Volume, but Not with Insulin Resistance
  JOURNAL   J Clin Endocrinol Metab 105 (10) (2020)
   PUBMED   32697825
  REMARK    GeneRIF: AMY1 Gene Copy Number Correlates With Glucose Absorption
            and Visceral Fat Volume, but Not with Insulin Resistance.
REFERENCE   2  (bases 1 to 1785)
  AUTHORS   Valsesia A, Kulkarni SS, Marquis J, Leone P, Mironova P, Walter O,
            Hjorth MF, Descombes P, Hager J, Saris WH, Astrup A, Darimont C and
            O'Callaghan NJ.
  TITLE     Salivary alpha-amylase copy number is not associated with weight
            trajectories and glycemic improvements following clinical weight
            loss: results from a 2-phase dietary intervention study
  JOURNAL   Am J Clin Nutr 109 (4), 1029-1037 (2019)
   PUBMED   30982860
  REMARK    GeneRIF: At baseline, a modest association between AMY1 gene copy
            number and BMI (P = 0.04) was observed but AMY1 gene copy was not
            associated with baseline glycemic variables.
REFERENCE   3  (bases 1 to 1785)
  AUTHORS   Carpenter D, Mitchell LM and Armour JA.
  TITLE     Copy number variation of human AMY1 is a minor contributor to
            variation in salivary amylase expression and activity
  JOURNAL   Hum Genomics 11 (1), 2 (2017)
   PUBMED   28219410
  REMARK    GeneRIF: AMY1 copy number was significantly correlated with the
            variation observed in salivary amylase production and enzyme
            activity but did not explain the majority of observed variation
            between individuals. AMY1-odd and AMY1-even haplotypes showed a
            different relationship between copy number and expression levels,
            but the difference was not statistically significant. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 1785)
  AUTHORS   Miller AL, Sturza J, Rosenblum K, Vazquez DM, Kaciroti N and Lumeng
            JC.
  TITLE     Salivary alpha amylase diurnal pattern and stress response are
            associated with body mass index in low-income preschool-aged
            children
  JOURNAL   Psychoneuroendocrinology 53, 40-48 (2015)
   PUBMED   25588701
  REMARK    GeneRIF: Diurnal and stress-response salivary alpha amylase patterns
            were related to child adiposity: decreased morning alpha amylase was
            associated with increased BMI.
REFERENCE   5  (bases 1 to 1785)
  AUTHORS   Morzel M, Chabanet C, Schwartz C, Lucchi G, Ducoroy P and Nicklaus
            S.
  TITLE     Salivary protein profiles are linked to bitter taste acceptance in
            infants
  JOURNAL   Eur J Pediatr 173 (5), 575-582 (2014)
   PUBMED   24248522
REFERENCE   6  (bases 1 to 1785)
  AUTHORS   Groot PC, Mager WH, Henriquez NV, Pronk JC, Arwert F, Planta RJ,
            Eriksson AW and Frants RR.
  TITLE     Evolution of the human alpha-amylase multigene family through
            unequal, homologous, and inter- and intrachromosomal crossovers
  JOURNAL   Genomics 8 (1), 97-105 (1990)
   PUBMED   2081604
REFERENCE   7  (bases 1 to 1785)
  AUTHORS   Groot PC, Bleeker MJ, Pronk JC, Arwert F, Mager WH, Planta RJ,
            Eriksson AW and Frants RR.
  TITLE     The human alpha-amylase multigene family consists of haplotypes with
            variable numbers of genes
  JOURNAL   Genomics 5 (1), 29-42 (1989)
   PUBMED   2788608
REFERENCE   8  (bases 1 to 1785)
  AUTHORS   Gumucio DL, Wiebauer K, Caldwell RM, Samuelson LC and Meisler MH.
  TITLE     Concerted evolution of human amylase genes
  JOURNAL   Mol Cell Biol 8 (3), 1197-1205 (1988)
   PUBMED   2452973
REFERENCE   9  (bases 1 to 1785)
  AUTHORS   Nishide,T., Nakamura,Y., Emi,M., Yamamoto,T., Ogawa,M., Mori,T. and
            Matsubara,K.
  TITLE     Primary structure of human salivary alpha-amylase gene
  JOURNAL   Gene 41 (2-3), 299-304 (1986)
   PUBMED   2423416
REFERENCE   10  (bases 1 to 1785)
  AUTHORS   Pronk,J.C., Frants,R.R., Jansen,W., Eriksson,A.W. and Tonino,G.J.
  TITLE     Evidence of duplication of the human salivary amylase gene
  JOURNAL   Hum Genet 60 (1), 32-35 (1982)
   PUBMED   6176528
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.600112.1,
            DRR138524.14726.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000330330.10/ ENSP00000330484.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL513482.13.
            On Sep 16, 2020 this sequence version replaced NM_001008218.1.
            Summary: Amylases are secreted proteins that hydrolyze
            1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides,
            and thus catalyze the first step in digestion of dietary starch and
            glycogen. The human genome has a cluster of several amylase genes
            that are expressed at high levels in either salivary gland or
            pancreas. This gene encodes an amylase isoenzyme produced by the
            salivary gland. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1785
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.1"
     gene            1..1785
                     /gene="AMY1B"
                     /gene_synonym="AMY1"
                     /note="amylase alpha 1B"
                     /db_xref="GeneID:277"
                     /db_xref="HGNC:HGNC:475"
                     /db_xref="MIM:104701"
     misc_feature    198..200
                     /gene="AMY1B"
                     /gene_synonym="AMY1"
                     /note="upstream in-frame stop codon"
     CDS             216..1751
                     /gene="AMY1B"
                     /gene_synonym="AMY1"
                     /EC_number="3.2.1.1"
                     /note="glycogenase; amylase, salivary, alpha-1B; salivary
                     amylase alpha 1B; alpha-amylase 1; salivary alpha-amylase;
                     1,4-alpha-D-glucan glucanohydrolase 1; amylase alpha 1B
                     (salivary); alpha-amylase 1A; alpha-amylase 1B"
                     /codon_start=1
                     /product="alpha-amylase 1B precursor"
                     /protein_id="NP_001008219.1"
                     /db_xref="CCDS:CCDS30783.1"
                     /db_xref="GeneID:277"
                     /db_xref="HGNC:HGNC:475"
                     /db_xref="MIM:104701"
                     /translation="MKLFWLLFTIGFCWAQYSSNTQQGRTSIVHLFEWRWVDIALECER
                     YLAPKGFGGVQVSPPNENVAIHNPFRPWWERYQPVSYKLCTRSGNEDEFRNMVTRCNNV
                     GVRIYVDAVINHMCGNAVSAGTSSTCGSYFNPGSRDFPAVPYSGWDFNDGKCKTGSGDI
                     ENYNDATQVRDCRLSGLLDLALGKDYVRSKIAEYMNHLIDIGVAGFRIDASKHMWPGDI
                     KAILDKLHNLNSNWFPEGSKPFIYQEVIDLGGEPIKSSDYFGNGRVTEFKYGAKLGTVI
                     RKWNGEKMSYLKNWGEGWGFMPSDRALVFVDNHDNQRGHGAGGASILTFWDARLYKMAV
                     GFMLAHPYGFTRVMSSYRWPRYFENGKDVNDWVGPPNDNGVTKEVTINPDTTCGNDWVC
                     EHRWRQIRNMVNFRNVVDGQPFTNWYDNGSNQVAFGRGNRGFIVFNNDDWTFSLTLQTG
                     LPAGTYCDVISGDKINGNCTGIKIYVSDDGKAHFSISNSAEDPFIAIHAESKL"
     sig_peptide     216..260
                     /gene="AMY1B"
                     /gene_synonym="AMY1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     261..1748
                     /gene="AMY1B"
                     /gene_synonym="AMY1"
                     /product="alpha-amylase 1B"
     misc_feature    261..263
                     /gene="AMY1B"
                     /gene_synonym="AMY1"
                     /note="Pyrrolidone carboxylic acid.
                     /evidence=ECO:0000250|UniProtKB:P00687; propagated from
                     UniProtKB/Swiss-Prot (P0DTE7.1);
                     pyrrolidone-carboxylic-acid site"
     misc_feature    1158..1160
                     /gene="AMY1B"
                     /gene_synonym="AMY1"
                     /note="Transition state stabilizer.
                     /evidence=ECO:0000250|UniProtKB:P04746; propagated from
                     UniProtKB/Swiss-Prot (P0DTE7.1); other site"
     misc_feature    1494..1496
                     /gene="AMY1B"
                     /gene_synonym="AMY1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16740002,
                     ECO:0000269|PubMed:1710976; propagated from
                     UniProtKB/Swiss-Prot (P0DTE7.1); glycosylation site"
     misc_feature    1641..1643
                     /gene="AMY1B"
                     /gene_synonym="AMY1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P0DTE7.1); glycosylation site"
ORIGIN
        1 atctagaggc tgggaagggc tcctgaacca gttgtttccg tcttgtcggt ctgtcagggt
       61 tggaaagtcc aagccatagg acccagtttc ctttcttagc ttacgttatc taccagagca
      121 ccgtgggctg ttacttgcct tgagttggaa gcggttcgca tttataccgg aatataaata
      181 gtttctggaa aggacactga caacttcaaa gcaaaatgaa gctcttttgg ttgcttttca
      241 ccattgggtt ctgctgggct cagtattcct caaatacaca acaaggacga acatctattg
      301 ttcatctgtt tgaatggcga tgggttgata ttgctcttga atgtgagcga tatttagctc
      361 ccaagggatt tggaggggtt caggtctctc caccaaatga aaatgttgcc attcacaacc
      421 ctttcagacc ttggtgggaa agataccaac cagttagcta taaattatgc acaagatctg
      481 gaaatgaaga tgaatttaga aacatggtga ctagatgcaa caatgttggg gttcgtattt
      541 atgtggatgc tgtaattaat catatgtgtg gtaatgctgt gagtgcagga acaagcagta
      601 cctgtggaag ttacttcaac cctggaagta gggactttcc agcagtccca tattctggat
      661 gggattttaa tgatggtaaa tgtaaaactg gaagtggaga tatcgagaac tataatgatg
      721 ctactcaggt cagagattgt cgtctgtctg gtcttctcga tcttgcactg gggaaggatt
      781 atgtgcgttc taagattgcc gaatatatga accatctcat tgacattggt gttgcagggt
      841 tcagaattga tgcttccaag cacatgtggc ctggagacat aaaggcaatt ttggacaaac
      901 tgcataatct aaacagtaac tggttcccgg aaggtagtaa acctttcatt taccaggagg
      961 taattgatct gggtggtgag ccaattaaaa gcagtgacta ctttggtaat ggccgggtga
     1021 cagaattcaa gtatggtgca aaactcggca cagttattcg caagtggaat ggagagaaga
     1081 tgtcttactt aaagaactgg ggagaaggtt ggggtttcat gccttctgac agagcgcttg
     1141 tctttgtgga taaccatgac aatcaacgag gacatggcgc tggaggagcc tctatactta
     1201 ccttctggga tgctaggctg tacaaaatgg cagttggatt tatgcttgct catccttatg
     1261 gatttacacg agtaatgtca agctaccgtt ggccaagata ttttgaaaat ggaaaagatg
     1321 ttaatgattg ggttgggcca ccaaatgata atggagtaac taaagaagtt actattaatc
     1381 cagacactac ttgtggcaat gactgggtct gtgaacatcg atggcgccaa ataaggaaca
     1441 tggttaattt ccgcaatgta gtggatggcc agccttttac aaactggtat gataatggga
     1501 gcaaccaagt ggcttttggg agaggaaaca gaggattcat tgttttcaac aatgatgact
     1561 ggacattttc tttaactttg caaactggtc ttcctgctgg cacatactgt gatgtcattt
     1621 ctggagataa aattaatggc aactgcacag gcattaaaat ctacgtttct gatgatggca
     1681 aagctcattt ttctattagt aactctgctg aagatccatt tattgcaatt catgctgaat
     1741 ctaaattgta aaatttaaaa ttaaatgcaa atccgcaaag caata
//
LOCUS       NM_001008219            1785 bp    mRNA    linear   PRI 19-MAR-2023
DEFINITION  Homo sapiens amylase alpha 1C (AMY1C), transcript variant 1, mRNA.
ACCESSION   NM_001008219
VERSION     NM_001008219.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1785)
  AUTHORS   Barber TM, Bhatti AA, Elder PJD, Ball SP, Calvez R, Ramsden DB,
            Cuthbertson DJ, Pfeiffer AF, Burnett D and Weickert MO.
  TITLE     AMY1 Gene Copy Number Correlates With Glucose Absorption and
            Visceral Fat Volume, but Not with Insulin Resistance
  JOURNAL   J Clin Endocrinol Metab 105 (10) (2020)
   PUBMED   32697825
  REMARK    GeneRIF: AMY1 Gene Copy Number Correlates With Glucose Absorption
            and Visceral Fat Volume, but Not with Insulin Resistance.
REFERENCE   2  (bases 1 to 1785)
  AUTHORS   Valsesia A, Kulkarni SS, Marquis J, Leone P, Mironova P, Walter O,
            Hjorth MF, Descombes P, Hager J, Saris WH, Astrup A, Darimont C and
            O'Callaghan NJ.
  TITLE     Salivary alpha-amylase copy number is not associated with weight
            trajectories and glycemic improvements following clinical weight
            loss: results from a 2-phase dietary intervention study
  JOURNAL   Am J Clin Nutr 109 (4), 1029-1037 (2019)
   PUBMED   30982860
  REMARK    GeneRIF: At baseline, a modest association between AMY1 gene copy
            number and BMI (P = 0.04) was observed but AMY1 gene copy was not
            associated with baseline glycemic variables.
REFERENCE   3  (bases 1 to 1785)
  AUTHORS   Miller AL, Sturza J, Rosenblum K, Vazquez DM, Kaciroti N and Lumeng
            JC.
  TITLE     Salivary alpha amylase diurnal pattern and stress response are
            associated with body mass index in low-income preschool-aged
            children
  JOURNAL   Psychoneuroendocrinology 53, 40-48 (2015)
   PUBMED   25588701
  REMARK    GeneRIF: Diurnal and stress-response salivary alpha amylase patterns
            were related to child adiposity: decreased morning alpha amylase was
            associated with increased BMI.
REFERENCE   4  (bases 1 to 1785)
  AUTHORS   Morzel M, Chabanet C, Schwartz C, Lucchi G, Ducoroy P and Nicklaus
            S.
  TITLE     Salivary protein profiles are linked to bitter taste acceptance in
            infants
  JOURNAL   Eur J Pediatr 173 (5), 575-582 (2014)
   PUBMED   24248522
REFERENCE   5  (bases 1 to 1785)
  AUTHORS   Tanaka Y, Ishitobi Y, Maruyama Y, Kawano A, Ando T, Okamoto S,
            Kanehisa M, Higuma H, Ninomiya T, Tsuru J, Hanada H, Kodama K,
            Isogawa K and Akiyoshi J.
  TITLE     Salivary alpha-amylase and cortisol responsiveness following
            electrical stimulation stress in major depressive disorder patients
  JOURNAL   Prog Neuropsychopharmacol Biol Psychiatry 36 (2), 220-224 (2012)
   PUBMED   22063648
  REMARK    GeneRIF: results show a strong association between acute physical
            stressor-induced elevations in sAA levels and patients with MDD.
REFERENCE   6  (bases 1 to 1785)
  AUTHORS   Groot PC, Mager WH, Henriquez NV, Pronk JC, Arwert F, Planta RJ,
            Eriksson AW and Frants RR.
  TITLE     Evolution of the human alpha-amylase multigene family through
            unequal, homologous, and inter- and intrachromosomal crossovers
  JOURNAL   Genomics 8 (1), 97-105 (1990)
   PUBMED   2081604
REFERENCE   7  (bases 1 to 1785)
  AUTHORS   Groot PC, Bleeker MJ, Pronk JC, Arwert F, Mager WH, Planta RJ,
            Eriksson AW and Frants RR.
  TITLE     The human alpha-amylase multigene family consists of haplotypes with
            variable numbers of genes
  JOURNAL   Genomics 5 (1), 29-42 (1989)
   PUBMED   2788608
REFERENCE   8  (bases 1 to 1785)
  AUTHORS   Gumucio DL, Wiebauer K, Caldwell RM, Samuelson LC and Meisler MH.
  TITLE     Concerted evolution of human amylase genes
  JOURNAL   Mol Cell Biol 8 (3), 1197-1205 (1988)
   PUBMED   2452973
REFERENCE   9  (bases 1 to 1785)
  AUTHORS   Nishide,T., Nakamura,Y., Emi,M., Yamamoto,T., Ogawa,M., Mori,T. and
            Matsubara,K.
  TITLE     Primary structure of human salivary alpha-amylase gene
  JOURNAL   Gene 41 (2-3), 299-304 (1986)
   PUBMED   2423416
REFERENCE   10  (bases 1 to 1785)
  AUTHORS   Pronk,J.C., Frants,R.R., Jansen,W., Eriksson,A.W. and Tonino,G.J.
  TITLE     Evidence of duplication of the human salivary amylase gene
  JOURNAL   Hum Genet 60 (1), 32-35 (1982)
   PUBMED   6176528
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.600112.1,
            DRR138524.14726.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000622339.5/ ENSP00000481450.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL513482.13.
            On Sep 16, 2020 this sequence version replaced NM_001008219.2.
            Summary: Amylases are secreted proteins that hydrolyze
            1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides,
            and thus catalyze the first step in digestion of dietary starch and
            glycogen. The human genome has a cluster of several amylase genes
            that are expressed at high levels in either salivary gland or
            pancreas. This gene encodes an amylase isoenzyme produced by the
            salivary gland. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer variant.
            Both variants 1 and 2 encode the same protein.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1785
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.1"
     gene            1..1785
                     /gene="AMY1C"
                     /gene_synonym="AMY1"
                     /note="amylase alpha 1C"
                     /db_xref="GeneID:278"
                     /db_xref="HGNC:HGNC:476"
                     /db_xref="MIM:104702"
     misc_feature    198..200
                     /gene="AMY1C"
                     /gene_synonym="AMY1"
                     /note="upstream in-frame stop codon"
     CDS             216..1751
                     /gene="AMY1C"
                     /gene_synonym="AMY1"
                     /EC_number="3.2.1.1"
                     /note="glycogenase; amylase, salivary, alpha-1C; amylase
                     alpha 1C (salivary); salivary amylase alpha 1C;
                     alpha-amylase 1; salivary alpha-amylase; 1,4-alpha-D-glucan
                     glucanohydrolase 1; alpha-amylase 1A; alpha-amylase 1C"
                     /codon_start=1
                     /product="alpha-amylase 1C precursor"
                     /protein_id="NP_001008220.1"
                     /db_xref="CCDS:CCDS30784.1"
                     /db_xref="GeneID:278"
                     /db_xref="HGNC:HGNC:476"
                     /db_xref="MIM:104702"
                     /translation="MKLFWLLFTIGFCWAQYSSNTQQGRTSIVHLFEWRWVDIALECER
                     YLAPKGFGGVQVSPPNENVAIHNPFRPWWERYQPVSYKLCTRSGNEDEFRNMVTRCNNV
                     GVRIYVDAVINHMCGNAVSAGTSSTCGSYFNPGSRDFPAVPYSGWDFNDGKCKTGSGDI
                     ENYNDATQVRDCRLSGLLDLALGKDYVRSKIAEYMNHLIDIGVAGFRIDASKHMWPGDI
                     KAILDKLHNLNSNWFPEGSKPFIYQEVIDLGGEPIKSSDYFGNGRVTEFKYGAKLGTVI
                     RKWNGEKMSYLKNWGEGWGFMPSDRALVFVDNHDNQRGHGAGGASILTFWDARLYKMAV
                     GFMLAHPYGFTRVMSSYRWPRYFENGKDVNDWVGPPNDNGVTKEVTINPDTTCGNDWVC
                     EHRWRQIRNMVNFRNVVDGQPFTNWYDNGSNQVAFGRGNRGFIVFNNDDWTFSLTLQTG
                     LPAGTYCDVISGDKINGNCTGIKIYVSDDGKAHFSISNSAEDPFIAIHAESKL"
     sig_peptide     216..260
                     /gene="AMY1C"
                     /gene_synonym="AMY1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     261..1748
                     /gene="AMY1C"
                     /gene_synonym="AMY1"
                     /product="Alpha-amylase 1C. /id=PRO_0000450821"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DTE8.1)"
     misc_feature    261..263
                     /gene="AMY1C"
                     /gene_synonym="AMY1"
                     /note="Pyrrolidone carboxylic acid.
                     /evidence=ECO:0000250|UniProtKB:P00687; propagated from
                     UniProtKB/Swiss-Prot (P0DTE8.1);
                     pyrrolidone-carboxylic-acid site"
     misc_feature    1158..1160
                     /gene="AMY1C"
                     /gene_synonym="AMY1"
                     /note="Transition state stabilizer.
                     /evidence=ECO:0000250|UniProtKB:P04746; propagated from
                     UniProtKB/Swiss-Prot (P0DTE8.1); other site"
     misc_feature    1494..1496
                     /gene="AMY1C"
                     /gene_synonym="AMY1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16740002,
                     ECO:0000269|PubMed:1710976; propagated from
                     UniProtKB/Swiss-Prot (P0DTE8.1); glycosylation site"
     misc_feature    1641..1643
                     /gene="AMY1C"
                     /gene_synonym="AMY1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P0DTE8.1); glycosylation site"
ORIGIN
        1 atctagaggc tgggaagggc tcctgaacca gttgtttccg tcttgtcggt ctgtcagggt
       61 tggaaagtcc aagccatagg acccagtttc ctttcttagc ttacgttatc taccagagca
      121 ccgtgggctg ttacttgcct tgagttggaa gcggttcgca tttataccgg aatataaata
      181 gtttctggaa aggacactga caacttcaaa gcaaaatgaa gctcttttgg ttgcttttca
      241 ccattgggtt ctgctgggct cagtattcct caaatacaca acaaggacga acatctattg
      301 ttcatctgtt tgaatggcga tgggttgata ttgctcttga atgtgagcga tatttagctc
      361 ccaagggatt tggaggggtt caggtctctc caccaaatga aaatgttgcc attcacaacc
      421 ctttcagacc ttggtgggaa agataccaac cagttagcta taaattatgc acaagatctg
      481 gaaatgaaga tgaatttaga aacatggtga ctagatgcaa caatgttggg gttcgtattt
      541 atgtggatgc tgtaattaat catatgtgtg gtaatgctgt gagtgcagga acaagcagta
      601 cctgtggaag ttacttcaac cctggaagta gggactttcc agcagtccca tattctggat
      661 gggattttaa tgatggtaaa tgtaaaactg gaagtggaga tatcgagaac tataatgatg
      721 ctactcaggt cagagattgt cgtctgtctg gtcttctcga tcttgcactg gggaaggatt
      781 atgtgcgttc taagattgcc gaatatatga accatctcat tgacattggt gttgcagggt
      841 tcagaattga tgcttccaag cacatgtggc ctggagacat aaaggcaatt ttggacaaac
      901 tgcataatct aaacagtaac tggttcccgg aaggtagtaa acctttcatt taccaggagg
      961 taattgatct gggtggtgag ccaattaaaa gcagtgacta ctttggtaat ggccgggtga
     1021 cagaattcaa gtatggtgca aaactcggca cagttattcg caagtggaat ggagagaaga
     1081 tgtcttactt aaagaactgg ggagaaggtt ggggtttcat gccttctgac agagcgcttg
     1141 tctttgtgga taaccatgac aatcaacgag gacatggcgc tggaggagcc tctatactta
     1201 ccttctggga tgctaggctg tacaaaatgg cagttggatt tatgcttgct catccttatg
     1261 gatttacacg agtaatgtca agctaccgtt ggccaagata ttttgaaaat ggaaaagatg
     1321 ttaatgattg ggttgggcca ccaaatgata atggagtaac taaagaagtt actattaatc
     1381 cagacactac ttgtggcaat gactgggtct gtgaacatcg atggcgccaa ataaggaaca
     1441 tggttaattt ccgcaatgta gtggatggcc agccttttac aaactggtat gataatggga
     1501 gcaaccaagt ggcttttggg agaggaaaca gaggattcat tgttttcaac aatgatgact
     1561 ggacattttc tttaactttg caaactggtc ttcctgctgg cacatactgt gatgtcattt
     1621 ctggagataa aattaatggc aactgcacag gcattaaaat ctacgtttct gatgatggca
     1681 aagctcattt ttctattagt aactctgctg aagatccatt tattgcaatt catgctgaat
     1741 ctaaattgta aaatttaaaa ttaaatgcaa atccgcaaag caata
//
LOCUS       NM_001008220            4597 bp    mRNA    linear   PRI 12-FEB-2023
DEFINITION  Homo sapiens complexin 2 (CPLX2), transcript variant 2, mRNA.
ACCESSION   NM_001008220
VERSION     NM_001008220.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4597)
  AUTHORS   Li H, Zhao J, Zhong XL, Xu PY, Du LJ, Fang P, Tan LJ, Li MJ, Zhang
            CF and Cao TS.
  TITLE     CPLX2 Regulates Ferroptosis and Apoptosis Through NRF2 Pathway in
            Human Hepatocellular Carcinoma Cells
  JOURNAL   Appl Biochem Biotechnol 195 (1), 597-609 (2023)
   PUBMED   36107387
  REMARK    GeneRIF: CPLX2 Regulates Ferroptosis and Apoptosis Through NRF2
            Pathway in Human Hepatocellular Carcinoma Cells.
REFERENCE   2  (bases 1 to 4597)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 4597)
  AUTHORS   Ramos-Miguel A, Sawada K, Jones AA, Thornton AE, Barr AM, Leurgans
            SE, Schneider JA, Bennett DA and Honer WG.
  TITLE     Presynaptic proteins complexin-I and complexin-II differentially
            influence cognitive function in early and late stages of Alzheimer's
            disease
  JOURNAL   Acta Neuropathol 133 (3), 395-407 (2017)
   PUBMED   27866231
  REMARK    GeneRIF: This study demonstrated that complexin-II differentially
            influence cognitive function in early and late stages of Alzheimer's
            disease.
REFERENCE   4  (bases 1 to 4597)
  AUTHORS   Kurokawa A, Narukawa M, Ohmoto M, Yoshimoto J, Abe K and Misaka T.
  TITLE     Expression of the synaptic exocytosis-regulating molecule complexin
            2 in taste buds and its participation in peripheral taste
            transduction
  JOURNAL   J Neurochem 133 (6), 806-814 (2015)
   PUBMED   25692331
  REMARK    GeneRIF: These results suggested that CPLX2 participated in synaptic
            taste transduction.
REFERENCE   5  (bases 1 to 4597)
  AUTHORS   Zakharyan R, Atshemyan S and Boyajyan A.
  TITLE     Risk and protective effects of the complexin-2 gene and
            gene-environment interactions in schizophrenia
  JOURNAL   Recent Adv DNA Gene Seq 8 (1), 30-34 (2014)
   PUBMED   25564026
  REMARK    GeneRIF: CPLX2 rs1366116*T variant represents a risk factor of
            schizophrenia, and , at the same time, CPLX2 rs3892909*T variant is
            protective against schizophrenia (study performed in Armenians).
REFERENCE   6  (bases 1 to 4597)
  AUTHORS   Yamada M, Saisu H, Ishizuka T, Takahashi H and Abe T.
  TITLE     Immunohistochemical distribution of the two isoforms of
            synaphin/complexin involved in neurotransmitter release:
            localization at the distinct central nervous system regions and
            synaptic types
  JOURNAL   Neuroscience 93 (1), 7-18 (1999)
   PUBMED   10430466
REFERENCE   7  (bases 1 to 4597)
  AUTHORS   Harrison PJ and Eastwood SL.
  TITLE     Preferential involvement of excitatory neurons in medial temporal
            lobe in schizophrenia
  JOURNAL   Lancet 352 (9141), 1669-1673 (1998)
   PUBMED   9853440
  REMARK    Erratum:[Lancet 1999 Jan 9;353(9147):154]
REFERENCE   8  (bases 1 to 4597)
  AUTHORS   Morgans CW, Brandstatter JH, Kellerman J, Betz H and Wassle H.
  TITLE     A SNARE complex containing syntaxin 3 is present in ribbon synapses
            of the retina
  JOURNAL   J Neurosci 16 (21), 6713-6721 (1996)
   PUBMED   8824312
REFERENCE   9  (bases 1 to 4597)
  AUTHORS   McMahon HT, Missler M, Li C and Sudhof TC.
  TITLE     Complexins: cytosolic proteins that regulate SNAP receptor function
  JOURNAL   Cell 83 (1), 111-119 (1995)
   PUBMED   7553862
REFERENCE   10  (bases 1 to 4597)
  AUTHORS   Christensen,V.L. and Johnston,N.P.
  TITLE     Effect of time of day of insemination and the position of the egg in
            the oviduct on the fertility of turkeys
  JOURNAL   Poult Sci 56 (2), 458-462 (1977)
   PUBMED   605033
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BN000500.2, SRR1803617.207302.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000393745.8/ ENSP00000377346.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY576870.1, U35100.1,
            BI197868.1, AK124837.1 and AC138965.2.
            On Nov 22, 2018 this sequence version replaced NM_001008220.1.
            Summary: Proteins encoded by the complexin/synaphin gene family are
            cytosolic proteins that function in synaptic vesicle exocytosis.
            These proteins bind syntaxin, part of the SNAP receptor. The
            protein product of this gene binds to the SNAP receptor complex and
            disrupts it, allowing transmitter release. Two transcript variants
            encoding the same protein have been found for this gene. [provided
            by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4597
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.2"
     gene            1..4597
                     /gene="CPLX2"
                     /gene_synonym="921-L; CPX-2; CPX2; Hfb1"
                     /note="complexin 2"
                     /db_xref="GeneID:10814"
                     /db_xref="HGNC:HGNC:2310"
                     /db_xref="MIM:605033"
     misc_feature    190..192
                     /gene="CPLX2"
                     /gene_synonym="921-L; CPX-2; CPX2; Hfb1"
                     /note="upstream in-frame stop codon"
     CDS             217..621
                     /gene="CPLX2"
                     /gene_synonym="921-L; CPX-2; CPX2; Hfb1"
                     /note="synaphin 1; CPX II; complexin II"
                     /codon_start=1
                     /product="complexin-2"
                     /protein_id="NP_001008221.1"
                     /db_xref="CCDS:CCDS4396.1"
                     /db_xref="GeneID:10814"
                     /db_xref="HGNC:HGNC:2310"
                     /db_xref="MIM:605033"
                     /translation="MDFVMKQALGGATKDMGKMLGGEEEKDPDAQKKEEERQEALRQQE
                     EERKAKHARMEAEREKVRQQIRDKYGLKKKEEKEAEEKAALEQPCEGSLTRPKKAIPAG
                     CGDEEEEEEESILDTVLKYLPGPLQDMFKK"
     misc_feature    217..558
                     /gene="CPLX2"
                     /gene_synonym="921-L; CPX-2; CPX2; Hfb1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PUV4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    337..507
                     /gene="CPLX2"
                     /gene_synonym="921-L; CPX-2; CPX2; Hfb1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PUV4.2);
                     Region: Interaction with the SNARE complex.
                     /evidence=ECO:0000250"
     misc_feature    493..495
                     /gene="CPLX2"
                     /gene_synonym="921-L; CPX-2; CPX2; Hfb1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P84087; propagated from
                     UniProtKB/Swiss-Prot (Q6PUV4.2); phosphorylation site"
     regulatory      4576..4581
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPLX2"
                     /gene_synonym="921-L; CPX-2; CPX2; Hfb1"
                     /note="hexamer: AAGAAA"
     polyA_site      4597
                     /gene="CPLX2"
                     /gene_synonym="921-L; CPX-2; CPX2; Hfb1"
                     /note="major polyA site"
ORIGIN
        1 agaagccgcg gctccagctc gcctggcgga attgcacgcg gcggcgggag ctggaatagc
       61 agaaggaacc acctcgtgga gtcgggccgg agccctgcag tggctcagac ggttgcaggg
      121 accgccaggt tgtcacatct tcccaagcca ggccagccag gagcgctgca tgcaaattct
      181 gccgtgggct aaggcacgct aaccagagcc ggcggcatgg acttcgtcat gaagcaggcc
      241 cttggagggg ccacaaagga catggggaag atgctggggg gagaggagga gaaggacccc
      301 gacgcgcaga aaaaggagga ggagcggcag gaggcgctgc ggcagcagga ggaggagcgt
      361 aaggccaagc acgcgcgcat ggaggcggag cgggagaagg tccggcagca gatccgagat
      421 aagtatgggc tgaagaagaa ggaggagaag gaagcagagg agaaagcagc cctggagcag
      481 ccctgcgagg ggagcctgac ccggcccaag aaggccatcc ctgcgggctg cggggacgag
      541 gaggaggagg aagaggagag catcctggac acggtgctca aatacctgcc cgggccgctg
      601 caggacatgt tcaagaagta accaggcctc ctgccccagc ctactccacc tgttactact
      661 tctttttggt tctttctttt ctttttatta ggttaagtct caattctgaa ggggaaaacc
      721 tcagttggcc tctgcccctc ttccctggcc aggggcttct ccccctcagc tctccctcac
      781 acctcccttc atcccagggt atccacctgc accccactcc caagtagctt gaaaaaggga
      841 ggacagtctt tccccagcag gggtcagggg ggcccctcag gaagcctaag gtcgtgctag
      901 tgtggtgacc cccatacatt cctccctgct ccccactgcc aggaggacca ctgtccccag
      961 ccagccaaag taatgacaca ttccagccct gcccagcatg ctgacctttg gcctctaacc
     1021 ctcagtgggc ccccaggtca gggcaggggc actgagtggc ctggctctga ggaagggagt
     1081 caggggaagc ctgtcccggg aaggcccagg ctgagaggcc ctggctctgg ccaggctggg
     1141 atctgggtgg gaggctgggg ctcttcttct tccatctcct tggtgacacc cagcccaggg
     1201 gcaccccctt ccccagcccc cacctggaga gacatggccc ctgccaagct ggtcccttca
     1261 aatggatcct ttgtggactt tagctcattt gtggaggaac cccaggtagg gacgcccctt
     1321 gttcctcacc cccaccccac ttaggtcctg ggcccccact gccaggctgg gcccagcttg
     1381 ctcagtcaag gggctgccag gcccccagaa aacacttgga gccatcgggt agcgatggtc
     1441 tatgccatgg ggaacacctc cattggtgtg gccaagctgc ccccattcct atccacccct
     1501 ctccccaccc cgtcctgtcc atgcgcttcc agggccccac ggtccccagg aggacgcttc
     1561 ctggccaaag ccccaagcct ttggtgagaa gccaattccc acttgacaga aggcgtccat
     1621 ccattcatct cattggccaa ggacaaactc tcctctggga cgtctgggac tggcatttgt
     1681 cccccactca aattatcaaa gctttctgct cagtcagttg tgtggggatg gtgagggaag
     1741 aggggtcaca tgagggagga aactgtatcc atgcatgcat gataatgcgt ggcagagact
     1801 gcaacaggga ttgtgtgttc agagatcata tgcatatgtg tagggctgga gcgtgtgtgt
     1861 gtcttgagat tgtgtgtgtt gcagtcatca tatctatgtg ttacagattg tgtatgttag
     1921 ccttgtgtat gtgtgcttga ttgaggtggt gtatttgggt tgaaattgtg tcatatgtgt
     1981 gtgctatcca tctcgtgttt agaggctgta tatgttagct tgtgtaagaa tgtgttttca
     2041 aaacagtgtg tgtattggga gtgatgggta tgtgttaggt atgtgatggg ttgtagaagc
     2101 gtgtgtttga gagaattcag agacatttga aggctgctgt gtgcatgttt gggggtctga
     2161 aaagacagtt gtgtgcatgg atgtgtgcgt ggggagaaag aacgtgggta agatgtccct
     2221 tcccagccct gagaccactg gtcacagttg gccacctcca acgggagacc ttgtccttgg
     2281 cctagagtcc tcccaccctt ggggggctcc tgcctgaggt cctcagaatc ccactgcaat
     2341 ggacccaggc agcgccccag gaagccatgc tgggcccccg ccagggccta tcccaaaagc
     2401 aggggccagg gagggggcga cttgcctgcc cctgaagccc ttgttcccat tggccccagt
     2461 ttgcattctg caggttttcc attttagtgg gttctgcttt tatttcagag acagacatgt
     2521 gtcttctctg tccgtttcca ataggtaaag ccatatcagt tagactgcaa tactttaaac
     2581 acgagacaaa acaatccata tgtttaggga accagaaaag tcccctggtc tgtcccttct
     2641 ttggggagca gggcctcgac agctccagct cccttgacct accttcctcc ccgcaccccg
     2701 cccccacctt gtgcccctgt gtccagcccc ccagggggcc tgtgtctgtg tctgtgcctg
     2761 tgtctgtgat ggggagccgc ctcgcacccc tgttgtctgc ttgtctcttt gtgtctgtta
     2821 tcctgggcag gatggtcatt ctcaaaaacc ctggggtcct gggccagaga caggcagggc
     2881 ccagtccagg ggccccaggc ctccccagtc ccagtgtgcg agccccactt ggacacaagt
     2941 gttcagagag gtccccctct gccacttgac agggaccttc aaacctcgac agtgatgcaa
     3001 ggacacagag agtaccagat aggtagcaga gaccaaggcg cagggtgctt cagatgagca
     3061 agagaaccca gtcgaaccag ataccccagg tgggccggag ggaccccaga ccttcagagg
     3121 gctgccctgg tgttctccac agtgcagtcc ctctgtattc ccagagtggg atcggggctt
     3181 tcagccccac cctgatgcct gccctccagg atggctggtt tagtctgggt ccatgtccca
     3241 gacccctcta ttctgctcca ggacagcagg acttcaggtc ttcctggggg tggatatagg
     3301 agaaaatttc tgcctggcac acacctggct ccaaccactg ccaagtgatc actcttaggc
     3361 ccaggggaac acaatgacta tcattactga tgcagacctg gctgtggaga gcagctaatg
     3421 tgtggcccag agagcctgtc tgtgtggagc acgtagtgca cagaatacgt gagagttgct
     3481 ctggcagggg cagaatcctc acaggatcgc ctgggaggtg aggtgtgtgt gacccactgg
     3541 atgggagggc aatgagtgtg cacatacaaa tggggcagtg tgcatgcaac acacttaggg
     3601 gaggagtggc cccagaattc agcacgcaca caacacacaa gggagagaac ccccagatga
     3661 gaaaatagga aggagcaatc atttgtagat gggtgaaaaa agaatgaggt tcaagggagc
     3721 gtgcaccagg tgaggtgagc gtgtgtgctc tcagggaagg gcccaggatc ccatgcctgg
     3781 gaggagctgc cagagagaag caaaaaggcg gctgtggatc gccctgggct gggcaccagt
     3841 gacaggtcag gatctccaaa catggacgtc ctcccctcca aatccagaag ctcccagaag
     3901 gtgtccttaa ctgcaaagct gtgcagggta ctcctccaga tggaatcagg aagtcgagac
     3961 accatcccag gtgtgtgtaa gagagagaga gagaacaggg aggatacaga agtattgcag
     4021 cccagatccc ctatcagggg gacagctggt gggcaaagca gccaccccac agccttgtgg
     4081 ctagagtaca gtggggtaga ccctccagcc ccaatagccc tagtacccag ctggcagggt
     4141 tgcccacccc tgctgtccac ctgctccatc ctctagggtt ccacaggccc ctgaccgcac
     4201 agggaggctg gggccagcct ggtctcccag gcctgaggac atgcctccca ccaaatgtcc
     4261 cctgctccag tcccactcct gtcaccccac gctctgcact ggggagaaaa cgggaggtgc
     4321 tcgtgctggc cctgggtggg agcggggagt cctggtgaga ccccggtgag atggaccatc
     4381 ctgcccccgt gggggatccc ctttcccaca tccgtgctgt gtcattgttg ctctgcttcc
     4441 tttcaatgtg tcagtgcctg gggggagggg aggagcaccc cctcagcccc cctgaacctg
     4501 accaaaagcc atggctgttg ctcccccctt tgtatgatgc aaatgctgaa atgtacaaaa
     4561 tcaaccatga caacaaagaa aaagaccttg tacagca
//
LOCUS       NM_001008223            2073 bp    mRNA    linear   PRI 28-JUL-2023
DEFINITION  Homo sapiens complement C1q like 4 (C1QL4), mRNA.
ACCESSION   NM_001008223
VERSION     NM_001008223.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2073)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2073)
  AUTHORS   Hamoud N, Tran V, Aimi T, Kakegawa W, Lahaie S, Thibault MP,
            Pelletier A, Wong GW, Kim IS, Kania A, Yuzaki M, Bouvier M and Cote
            JF.
  TITLE     Spatiotemporal regulation of the GPCR activity of BAI3 by C1qL4 and
            Stabilin-2 controls myoblast fusion
  JOURNAL   Nat Commun 9 (1), 4470 (2018)
   PUBMED   30367035
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2073)
  AUTHORS   Wei Z, Seldin MM, Natarajan N, Djemal DC, Peterson JM and Wong GW.
  TITLE     C1q/tumor necrosis factor-related protein 11 (CTRP11), a novel
            adipose stroma-derived regulator of adipogenesis
  JOURNAL   J Biol Chem 288 (15), 10214-10229 (2013)
   PUBMED   23449976
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF466366.1, BC110812.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145313 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000334221.5/ ENSP00000335285.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF466366.1 and AC125611.4.
            On Nov 23, 2018 this sequence version replaced NM_001008223.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2073
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..2073
                     /gene="C1QL4"
                     /gene_synonym="C1QTNF11; CTRP11"
                     /note="complement C1q like 4"
                     /db_xref="GeneID:338761"
                     /db_xref="HGNC:HGNC:31416"
                     /db_xref="MIM:615229"
     misc_feature    523..525
                     /gene="C1QL4"
                     /gene_synonym="C1QTNF11; CTRP11"
                     /note="upstream in-frame stop codon"
     CDS             712..1428
                     /gene="C1QL4"
                     /gene_synonym="C1QTNF11; CTRP11"
                     /note="complement C1q-like protein 4; C1q/TNF-related
                     protein 11; C1q and tumor necrosis factor-related protein
                     11; complement component 1, q subcomponent like 4"
                     /codon_start=1
                     /product="complement C1q-like protein 4 precursor"
                     /protein_id="NP_001008224.1"
                     /db_xref="CCDS:CCDS31793.1"
                     /db_xref="GeneID:338761"
                     /db_xref="HGNC:HGNC:31416"
                     /db_xref="MIM:615229"
                     /translation="MVLLLLVAIPLLVHSSRGPAHYEMLGRCRMVCDPHGPRGPGPDGA
                     PASVPPFPPGAKGEVGRRGKAGLRGPPGPPGPRGPPGEPGRPGPPGPPGPGPGGVAPAA
                     GYVPRIAFYAGLRRPHEGYEVLRFDDVVTNVGNAYEAASGKFTCPMPGVYFFAYHVLMR
                     GGDGTSMWADLMKNGQVRASAIAQDADQNYDYASNSVILHLDVGDEVFIKLDGGKVHGG
                     NTNKYSTFSGFIIYPD"
     sig_peptide     712..756
                     /gene="C1QL4"
                     /gene_synonym="C1QTNF11; CTRP11"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    817..1014
                     /gene="C1QL4"
                     /gene_synonym="C1QTNF11; CTRP11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86Z23.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2054..2059
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1QL4"
                     /gene_synonym="C1QTNF11; CTRP11"
                     /note="hexamer: AATAAA"
     polyA_site      2073
                     /gene="C1QL4"
                     /gene_synonym="C1QTNF11; CTRP11"
                     /note="major polyA site"
ORIGIN
        1 ataccacccg cgcccgggag ggaggggagg aaggttaggg aggcggagag ggaccgcgcc
       61 cgcaggagag aggcgcgggc cagggctcta gcagggactg gggccgcggc aggggtagca
      121 aggtgagtcg gtgcttgcca agaggcagag cgcaaaacct actaggagat cgcgcccggt
      181 gagcagcacc cgcagctcag agcccgggac gtccggagcg cggggagcag tcccctctcc
      241 atcagggagt ggtctatctg ggcagtctgg gacccaggca ccgcgccatc cctgagagag
      301 cagcagtctg gagagcaggc atctcagatc cctaagaaac cagccgtccg agaagccgcg
      361 gatctcaggt gcccaggatc gttaggactg aacgggaggg tactagagga ccactggctc
      421 tggaccgtcg ggagctgccc ctgacgtaac ccacgagggg cctccccttg acggacggct
      481 tggggagcgg caccgccgcg gctggagccc gcagaggcag ggtaagggga gcggggggca
      541 gccgtcgggg gagtgcagac ccaggcccaa ggcgggtcac cgcctcctgg cccgcggaga
      601 gccccggccc cggcagccat tgcgcccaag agtgaggaag atttgctggc cctggcagcg
      661 tcgcggctga gccgccgcaa gagggtggcg ggcgcggccg tcggagtggc catggtgctg
      721 ctgctgctgg tggccatccc gctgctggtg cacagctccc gcgggccagc gcactacgag
      781 atgctgggtc gctgccgcat ggtgtgcgac ccgcatgggc cccgtggccc tggtcccgac
      841 ggcgcgcctg cttccgtgcc ccccttcccg ccaggcgcca agggagaggt gggccggcgc
      901 gggaaagcag gcctgcgggg gccccctgga ccaccaggtc caagagggcc cccaggagaa
      961 cccggcaggc caggcccccc gggccctccc ggtccaggtc cgggcggggt ggcgcccgct
     1021 gccggctacg tgcctcgcat tgctttctac gcgggcctgc ggcggcccca cgagggttac
     1081 gaggtgctgc gcttcgacga cgtggtgacc aacgtgggca acgcctacga ggcagccagc
     1141 ggcaagttta cttgccccat gccaggcgtc tacttcttcg cttaccacgt gctcatgcgc
     1201 ggcggcgacg gcaccagcat gtgggccgac ctcatgaaga acggacaggt ccgggccagc
     1261 gccattgctc aggacgcgga ccagaactac gactacgcca gcaacagcgt cattctgcac
     1321 ctggacgtgg gcgacgaggt cttcatcaag ctggacggcg ggaaagtgca cggcggcaac
     1381 accaacaagt acagcacctt ctccggcttc atcatctacc ccgactgagc cggccccgcc
     1441 ccgtgccccc gctcgcccct tctctcccgt cctcacccac ctcctgcccg ccccacccga
     1501 ggcgccaccc caccctttga gagcctggcg gtggggtgga cccttccgtt cccggaggcg
     1561 gcctaaatgg gcgaactctt ggtgctcaag ggtataagtg gccgggaaga ggaggagacc
     1621 cggccagagg agcagagcga cttccggagg gatcacccgc acccaagtgc gcgctggacc
     1681 ccataggggc agaggtcgtg gctttctctt ttgtacagag atggggagca gttttaatag
     1741 cgggactcag aggcccagaa agccggaggg aagcccccgc agcttgcgag ggaaataaca
     1801 gaaacaggag gagcccattt aggcaagaga agacattaaa acagggtagt gcaggttctc
     1861 cgtcacaact ttctctcgcc accctctcgt cccctcgtct ccactttcag gctcaggctc
     1921 cagccttggc agccttcctg tgaactggag gaaccagtga attctttcct ggcatttaaa
     1981 acgcattctg tacagtcccc attcccccct atccggacta ggccctgggg ctacagctgc
     2041 tgctgcctct tctaataaag tgaggttggg gga
//
LOCUS       NM_001008237             941 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens tetratricopeptide repeat domain 32 (TTC32), mRNA.
ACCESSION   NM_001008237
VERSION     NM_001008237.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 941)
  AUTHORS   Xu Y, Zhuo Y, Ye M, Li M, Tang X and Zhou L.
  TITLE     Association study of genetic variants at TTC32-WDR35 gene cluster
            with coronary artery disease in Chinese Han population
  JOURNAL   J Clin Lab Anal 35 (2), e23594 (2021)
   PUBMED   33009702
  REMARK    GeneRIF: Association study of genetic variants at TTC32-WDR35 gene
            cluster with coronary artery disease in Chinese Han population.
REFERENCE   2  (bases 1 to 941)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 941)
  AUTHORS   Lu X, Wang L, Chen S, He L, Yang X, Shi Y, Cheng J, Zhang L, Gu CC,
            Huang J, Wu T, Ma Y, Li J, Cao J, Chen J, Ge D, Fan Z, Li Y, Zhao L,
            Li H, Zhou X, Chen L, Liu D, Chen J, Duan X, Hao Y, Wang L, Lu F,
            Liu Z, Yao C, Shen C, Pu X, Yu L, Fang X, Xu L, Mu J, Wu X, Zheng R,
            Wu N, Zhao Q, Li Y, Liu X, Wang M, Yu D, Hu D, Ji X, Guo D, Sun D,
            Wang Q, Yang Y, Liu F, Mao Q, Liang X, Ji J, Chen P, Mo X, Li D,
            Chai G, Tang Y, Li X, Du Z, Liu X, Dou C, Yang Z, Meng Q, Wang D,
            Wang R, Yang J, Schunkert H, Samani NJ, Kathiresan S, Reilly MP,
            Erdmann J, Peng X, Wu X, Liu D, Yang Y, Chen R, Qiang B and Gu D.
  CONSRTM   Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis
            (CARDIoGRAM) Consortium
  TITLE     Genome-wide association study in Han Chinese identifies four new
            susceptibility loci for coronary artery disease
  JOURNAL   Nat Genet 44 (8), 890-894 (2012)
   PUBMED   22751097
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189661.969.1, SRR1660809.16281.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000333610.4/ ENSP00000333018.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC057850.1, BC070381.1 and AI366807.1.
            On Nov 22, 2018 this sequence version replaced NM_001008237.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..941
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p24.1"
     gene            1..941
                     /gene="TTC32"
                     /note="tetratricopeptide repeat domain 32"
                     /db_xref="GeneID:130502"
                     /db_xref="HGNC:HGNC:32954"
     misc_feature    115..117
                     /gene="TTC32"
                     /note="upstream in-frame stop codon"
     CDS             130..585
                     /gene="TTC32"
                     /note="TPR repeat protein 32"
                     /codon_start=1
                     /product="tetratricopeptide repeat protein 32"
                     /protein_id="NP_001008238.1"
                     /db_xref="CCDS:CCDS33151.1"
                     /db_xref="GeneID:130502"
                     /db_xref="HGNC:HGNC:32954"
                     /translation="MEGQRQESHATLTLAQAHFNNGEYAEAEALYSAYIRRCACAASSD
                     ESPGSKCSPEDLATAYNNRGQIKYFRVDFYEAMDDYTSAIEVQPNFEVPYYNRGLILYR
                     LGYFDDALEDFKKVLDLNPGFQDATLSLKQTILDKEEKQRRNVAKNY"
     misc_feature    151..252
                     /gene="TTC32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I0X7.1);
                     Region: TPR 1"
     misc_feature    301..402
                     /gene="TTC32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I0X7.1);
                     Region: TPR 2"
     misc_feature    403..504
                     /gene="TTC32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I0X7.1);
                     Region: TPR 3"
     regulatory      799..804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTC32"
                     /note="hexamer: ATTAAA"
     regulatory      806..811
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTC32"
                     /note="hexamer: ATTATA"
     polyA_site      818
                     /gene="TTC32"
                     /note="major polyA site"
     polyA_site      822
                     /gene="TTC32"
                     /note="major polyA site"
     regulatory      919..924
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTC32"
                     /note="hexamer: AATAAA"
     polyA_site      941
                     /gene="TTC32"
ORIGIN
        1 aggcacaaac ctagcgccaa ggttggctgt caaggtagat tccagggtgt ggaagtggct
       61 ttgtggtgcc acctctaacc gctcggaggt caacccccat tctacaccga aaactaggcc
      121 ttggctgcta tggaaggaca gcggcaagaa agccacgcaa ccctaacact cgcccaggct
      181 catttcaaca atggagagta cgcggaggcc gaggcactgt actccgctta cattcgccgg
      241 tgcgcttgcg cggcctccag cgacgagagt cccgggagca aatgcagccc tgaggatttg
      301 gctactgcat ataacaacag ggggcaaatc aagtacttca gggttgattt ttatgaagcc
      361 atggatgact acacatctgc catagaagtc caacccaatt ttgaagttcc atattacaac
      421 agagggttga tactgtatag gctgggatat tttgatgatg ctttggaaga tttcaagaag
      481 gtcttagact taaatcctgg atttcaagat gctactttga gcttaaaaca gactattcta
      541 gacaaagaag aaaaacaaag aagaaatgtt gcaaaaaatt attgatattt ttaacttaat
      601 ggaagtattg attcatgatc cttacatctg catctagtta tcagtaattt agatattgag
      661 ctattttgat ttatatttaa gaaattaata cattagcact gaaagttaaa tagtgtgttt
      721 aaggtagtta atttcaggtt gaatgggttt tttttaatga agtgtaaata ataccaatgt
      781 ataagtgtat attattatat taaatattat agtaaaaagg aatgtgtggt attttcttca
      841 gcaaaactat ttttgtgatt tttttattct caacttttta tttaaaaaat gttacatctg
      901 cagaaaagtt gaaagtataa taaactcttc agttaaattc a
//
LOCUS       NM_001008269             576 bp    mRNA    linear   PRI 10-SEP-2020
DEFINITION  Homo sapiens transmembrane protein 89 (TMEM89), mRNA.
ACCESSION   NM_001008269
VERSION     NM_001008269.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 576)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC133036.1, BX281566.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000330862.4/ ENSP00000329557.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC133036.1.
            On May 17, 2019 this sequence version replaced NM_001008269.2.
FEATURES             Location/Qualifiers
     source          1..576
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..576
                     /gene="TMEM89"
                     /note="transmembrane protein 89"
                     /db_xref="GeneID:440955"
                     /db_xref="HGNC:HGNC:32372"
     CDS             14..493
                     /gene="TMEM89"
                     /codon_start=1
                     /product="transmembrane protein 89 precursor"
                     /protein_id="NP_001008270.1"
                     /db_xref="CCDS:CCDS33751.1"
                     /db_xref="GeneID:440955"
                     /db_xref="HGNC:HGNC:32372"
                     /translation="MLHVLASLPLLLLLVTSASTHAWSRPLWYQVGLDLQPWGCQPKSV
                     EGCRGGLSCPGYWLGPGASRIYPVAAVMITTTMLMICRKILQGRRRSQATKGEHPQVTT
                     EPCGPWKRRAPISDHTLLRGVLHMLDALLVHIEGHLRHLATQRQIQIKGTSTQSG"
     sig_peptide     14..79
                     /gene="TMEM89"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      463..468
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM89"
                     /note="hexamer: AATAAA"
     polyA_site      498
                     /gene="TMEM89"
                     /note="major polyA site"
ORIGIN
        1 actagcgacg gccatgctgc atgtgctggc ctcgctgcct ttgctgctcc tgctggtgac
       61 gtctgcctcc acccacgcct ggtcgagacc cctctggtac caggtggggc tggacttgca
      121 gccctggggg tgtcagccaa agagtgtgga gggctgtagg ggtggcctga gctgtcctgg
      181 ctactggctg ggccctggag caagccgcat ctaccccgtg gctgcggtca tgatcaccac
      241 cacgatgctg atgatctgcc gcaagatact gcaggggcgg cggcgctcac aggccaccaa
      301 gggtgagcat ccgcaggtga ccactgagcc ctgcggaccc tggaaacggc gggccccaat
      361 ctcagaccac accctgctcc gtggggtcct gcacatgctg gatgccctcc tggtccacat
      421 cgaaggccac ctacgtcatc tagccaccca gcggcaaatc caaataaagg ggacttccac
      481 ccagagtggg tgaccgaaca tgtgcctctc tttgcctgac agcctgaggt cctgggccag
      541 gtctgctctt tccaggcctg tctggaccgt gtgtcc
//
LOCUS       NM_001008270            1239 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens serine protease 37 (PRSS37), transcript variant 1,
            mRNA.
ACCESSION   NM_001008270
VERSION     NM_001008270.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1239)
  AUTHORS   Liu J, Shen C, Fan W, Chen Y, Zhang A, Feng Y, Li Z, Kuang Y and
            Wang Z.
  TITLE     Low levels of PRSS37 protein in sperm are associated with many cases
            of unexplained male infertility
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 48 (11), 1058-1065 (2016)
   PUBMED   27649891
  REMARK    GeneRIF: Sperm with low PRSS37 contents exhibit abnormal activation
            of the proacrosin/acrosin system and premature proteolysis of ADAM2,
            which may impair the functional competence of human sperm in vivo
REFERENCE   2  (bases 1 to 1239)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK172866.1, BC137354.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148093,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000350549.8/ ENSP00000297767.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093638.4, AK172866.1, BC137353.1 and AA628371.1.
            On Aug 31, 2019 this sequence version replaced NM_001008270.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1239
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..1239
                     /gene="PRSS37"
                     /gene_synonym="TRYX2"
                     /note="serine protease 37"
                     /db_xref="GeneID:136242"
                     /db_xref="HGNC:HGNC:29211"
     misc_feature    395..397
                     /gene="PRSS37"
                     /gene_synonym="TRYX2"
                     /note="upstream in-frame stop codon"
     CDS             437..1144
                     /gene="PRSS37"
                     /gene_synonym="TRYX2"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; probable inactive trypsin-X2; probable inactive serine
                     protease 37; Peptidase S1 domain-containing protein
                     LOC136242; protease, serine 37"
                     /codon_start=1
                     /product="probable inactive serine protease 37 isoform 1
                     precursor"
                     /protein_id="NP_001008271.2"
                     /db_xref="CCDS:CCDS34764.1"
                     /db_xref="GeneID:136242"
                     /db_xref="HGNC:HGNC:29211"
                     /translation="MKYVFYLGVLAGTFFFADSSVQKEDPAPYLVYLKSHFNPCVGVLI
                     KPSWVLAPAHCYLPNLKVMLGNFKSRVRDGTEQTINPIQIVRYWNYSHSAPQDDLMLIK
                     LAKPAMLNPKVQPLTLATTNVRPGTVCLLSGLDWSQENSGRHPDLRQNLEAPVMSDREC
                     QKTEQGKSHRNSLCVKFVKVFSRIFGEVAVATVICKDKLQGIEVGHFMGGDVGIYTNVY
                     KYVSWIENTAKDK"
     sig_peptide     437..493
                     /gene="PRSS37"
                     /gene_synonym="TRYX2"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (A4D1T9.1)"
     regulatory      1219..1224
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRSS37"
                     /gene_synonym="TRYX2"
                     /note="hexamer: AATAAA"
     polyA_site      1239
                     /gene="PRSS37"
                     /gene_synonym="TRYX2"
                     /note="major polyA site"
ORIGIN
        1 aaacctcagg acacttactc cctgagctaa ggtaaagaat attgtccctc atagccctgg
       61 tctcagaaac tctgtgggga agataagtcc tgagcctaga gctgccattt ccacagacaa
      121 ctgaactacc ttcaaacaga tgtgttttta ggggcagcag atagaaggag ctgaatccag
      181 gagtttcctt ccctgaaatg ccccaacaga ggcacagtcc tccaccttcc ctggaacaga
      241 gggctttcat ctgtctctct gaagccatct ccctcccctg tttatgccca gagctgcttt
      301 ccaatcccat ggagtgcctc cgtatctaac catagccact gagtctacca ggtgttcctg
      361 agaagacaac taagccaacc gctccacact ctgctgattt tcttctacat ctcacagggg
      421 gaagagctgg atcaccatga aatatgtctt ctatttgggt gtcctcgctg ggacattttt
      481 ctttgctgac tcatctgttc agaaagaaga ccctgctccc tatttggtgt acctcaagtc
      541 tcacttcaac ccctgtgtgg gcgtcctcat caaacccagc tgggtgctgg ccccagctca
      601 ctgctattta ccaaatctga aagtgatgct gggaaatttc aagagcagag tcagagacgg
      661 tactgaacag acaattaacc ccattcagat cgtccgctac tggaactaca gtcatagcgc
      721 cccacaggat gacctcatgc tcatcaagct ggctaagcct gccatgctca atcccaaagt
      781 ccagcccctt accctcgcca ccaccaatgt caggccaggc actgtctgtc tactctcagg
      841 tttggactgg agccaagaaa acagtggccg acaccctgac ttgcggcaga acctggaggc
      901 ccccgtgatg tctgatcgag aatgccaaaa aacagaacaa ggaaaaagcc acaggaattc
      961 cttatgtgtg aaatttgtga aagtattcag ccgaattttt ggggaggtgg ccgttgctac
     1021 tgtcatctgc aaagacaagc tccagggaat cgaggtgggg cacttcatgg gaggggacgt
     1081 cggcatctac accaatgttt acaaatatgt atcctggatt gagaacactg ctaaggacaa
     1141 gtgagaccct acttctccct ctgcattcca ctggctctgc catggactat acaagcagat
     1201 aattttccct ctattcaaaa taaaatctcc aaatgaaaa
//
LOCUS       NM_001008272            1129 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens transgelin 3 (TAGLN3), transcript variant 2, mRNA.
ACCESSION   NM_001008272
VERSION     NM_001008272.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1129)
  AUTHORS   Ito M, Depaz I, Wilce P, Suzuki T, Niwa S and Matsumoto I.
  TITLE     Expression of human neuronal protein 22, a novel
            cytoskeleton-associated protein, was decreased in the anterior
            cingulate cortex of schizophrenia
  JOURNAL   Neurosci Lett 378 (3), 125-130 (2005)
   PUBMED   15781144
  REMARK    GeneRIF: Altered expression of hNP22 may be associated with
            modifications in neuronal cytoarchitecture leading to dysregulation
            of neural signal transduction in the anterior cingulate cortex of
            the schizophrenia brain.
REFERENCE   2  (bases 1 to 1129)
  AUTHORS   Depaz I, Ito M, Matsumoto I, Niwa S, Kroon P and Wilce PA.
  TITLE     Expression of hNP22 is altered in the frontal cortex and hippocampus
            of the alcoholic human brain
  JOURNAL   Alcohol Clin Exp Res 27 (9), 1481-1488 (2003)
   PUBMED   14506410
  REMARK    GeneRIF: Western blots revealed a significant increase in hNP22
            protein levels in the frontal cortex but not the motor cortex of
            alcoholic cases. Erratum:[Alcohol Clin Exp Res. 2004 Sep;28(9):1431]
REFERENCE   3  (bases 1 to 1129)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1129)
  AUTHORS   Fan L, Jaquet V, Dodd PR, Chen W and Wilce PA.
  TITLE     Molecular cloning and characterization of hNP22: a gene up-regulated
            in human alcoholic brain
  JOURNAL   J Neurochem 76 (5), 1275-1281 (2001)
   PUBMED   11238712
REFERENCE   5  (bases 1 to 1129)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang
            GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   6  (bases 1 to 1129)
  AUTHORS   Ren WZ, Ng GY, Wang RX, Wu PH, O'Dowd BF, Osmond DH, George SR and
            Liew CC.
  TITLE     The identification of NP25: a novel protein that is differentially
            expressed by neuronal subpopulations
  JOURNAL   Brain Res Mol Brain Res 22 (1-4), 173-185 (1994)
   PUBMED   8015377
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF087855.1, SRR5189652.253305.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000478951.6/ ENSP00000419105.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI752099.1, BC015329.1 and BM894229.1.
            On Nov 22, 2018 this sequence version replaced NM_001008272.1.
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1129
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.2"
     gene            1..1129
                     /gene="TAGLN3"
                     /gene_synonym="NP22; NP24; NP25"
                     /note="transgelin 3"
                     /db_xref="GeneID:29114"
                     /db_xref="HGNC:HGNC:29868"
                     /db_xref="MIM:607953"
     misc_feature    193..195
                     /gene="TAGLN3"
                     /gene_synonym="NP22; NP24; NP25"
                     /note="upstream in-frame stop codon"
     CDS             196..795
                     /gene="TAGLN3"
                     /gene_synonym="NP22; NP24; NP25"
                     /note="neuronal protein 22; neuronal protein NP25"
                     /codon_start=1
                     /product="transgelin-3"
                     /protein_id="NP_001008273.1"
                     /db_xref="CCDS:CCDS33816.1"
                     /db_xref="GeneID:29114"
                     /db_xref="HGNC:HGNC:29868"
                     /db_xref="MIM:607953"
                     /translation="MANRGPSYGLSREVQEKIEQKYDADLENKLVDWIILQCAEDIEHP
                     PPGRAHFQKWLMDGTVLCKLINSLYPPGQEPIPKISESKMAFKQMEQISQFLKAAETYG
                     VRTTDIFQTVDLWEGKDMAAVQRTLMALGSVAVTKDDGCYRGEPSWFHRKAQQNRRGFS
                     EEQLRQGQNVIGLQMGSNKGASQAGMTGYGMPRQIM"
     misc_feature    682..684
                     /gene="TAGLN3"
                     /gene_synonym="NP22; NP24; NP25"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P37805; propagated from
                     UniProtKB/Swiss-Prot (Q9UI15.2); phosphorylation site"
     misc_feature    715..792
                     /gene="TAGLN3"
                     /gene_synonym="NP22; NP24; NP25"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UI15.2);
                     Region: Calponin-like"
     misc_feature    721..792
                     /gene="TAGLN3"
                     /gene_synonym="NP22; NP24; NP25"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UI15.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1107..1112
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TAGLN3"
                     /gene_synonym="NP22; NP24; NP25"
                     /note="hexamer: AATAAA"
     polyA_site      1129
                     /gene="TAGLN3"
                     /gene_synonym="NP22; NP24; NP25"
                     /note="major polyA site"
ORIGIN
        1 aaatcaatgt gccattcttc caggcgcgag gcagcagcgg ctgcagttca acatgaaagg
       61 aggcttcctc cctgcctgct aattacctgc tcttcccgat ctcatcgttt ctgcctttgc
      121 aaagtgctac tgagaagggg gaagaaacgt ccgccaccca tcccccttgc tgcctggggg
      181 ttcagacttg attagatggc taacaggggc ccgagctatg gcttaagccg agaggtgcag
      241 gagaagatcg agcagaagta tgatgcggac ctggagaaca agctggtgga ctggatcatc
      301 ctgcagtgcg ccgaggacat agagcacccg ccccccggca gggcccattt tcagaaatgg
      361 ttaatggacg ggacggtcct gtgcaagctg ataaatagtt tatacccacc aggacaagag
      421 cccataccca agatctcaga gtcaaagatg gcttttaagc agatggagca aatctcccag
      481 ttcctaaaag ctgcggagac ctatggtgtc agaaccaccg acatctttca gacggtggat
      541 ctatgggaag ggaaggacat ggcagctgtg cagaggaccc tgatggcttt aggcagcgtt
      601 gcagtcacca aggatgatgg ctgctatcgg ggagagccat cctggtttca caggaaagcc
      661 cagcagaatc ggagaggctt ttccgaggag cagcttcgcc agggacagaa cgtaataggc
      721 ctgcagatgg gcagcaacaa gggagcctcc caggcgggca tgacagggta cgggatgccc
      781 aggcagatca tgtaggacgc ggcatcctgc ccctggtaga gaggacgaat gttccacacc
      841 atggtctcta cgaaaaagaa atagttagtc accttctgac cttctcctct ttctcaaagc
      901 cttctgtccc tggtttttgc aagtgctgca tttccgccga gaatccgcgt tgcctactgc
      961 tgccacctcc tgttcattta gaactatgca aagactccgc ttccgttttc ctgagctcct
     1021 cgggccccag agtctctgtt tgattattta tttatttatt tatttatttg ccaaaaattc
     1081 tcctcttcaa cttatagaat gcacctaata aagtaattag tcttgtgtc
//
LOCUS       NM_001008274            8402 bp    mRNA    linear   PRI 11-JUN-2023
DEFINITION  Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.
ACCESSION   NM_001008274
VERSION     NM_001008274.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8402)
  AUTHORS   Zhu XZ, Wang JQ and Wu YH.
  TITLE     MG53 ameliorates nerve injury induced neuropathic pain through the
            regulation of Nrf2/HO-1 signaling in rats
  JOURNAL   Behav Brain Res 449, 114489 (2023)
   PUBMED   37169128
  REMARK    GeneRIF: MG53 ameliorates nerve injury induced neuropathic pain
            through the regulation of Nrf2/HO-1 signaling in rats.
REFERENCE   2  (bases 1 to 8402)
  AUTHORS   Cai M, Gao X and Yu S.
  TITLE     Tripartite motif 72 inhibits apoptosis and mitochondrial dysfunction
            in neural stem cells induced by anesthetic sevoflurane by activating
            PI3K/AKT pathway
  JOURNAL   Chin J Physiol 66 (1), 36-42 (2023)
   PUBMED   36814155
  REMARK    GeneRIF: Tripartite motif 72 inhibits apoptosis and mitochondrial
            dysfunction in neural stem cells induced by anesthetic sevoflurane
            by activating PI3K/AKT pathway.
REFERENCE   3  (bases 1 to 8402)
  AUTHORS   Niu Y, Chen G, Lv F, Xiao RP, Hu X and Chen L.
  TITLE     Cryo-EM structure of human MG53 homodimer
  JOURNAL   Biochem J 479 (17), 1909-1916 (2022)
   PUBMED   36053137
  REMARK    GeneRIF: Cryo-EM structure of human MG53 homodimer.
REFERENCE   4  (bases 1 to 8402)
  AUTHORS   Cui KM, Hu ZP and Wang YL.
  TITLE     MG53 represses high glucose-induced inflammation and angiogenesis in
            human retinal endothelial cells by repressing the EGR1/STAT3 axis
  JOURNAL   Immunopharmacol Immunotoxicol 44 (4), 484-491 (2022)
   PUBMED   35438597
  REMARK    GeneRIF: MG53 represses high glucose-induced inflammation and
            angiogenesis in human retinal endothelial cells by repressing the
            EGR1/STAT3 axis.
REFERENCE   5  (bases 1 to 8402)
  AUTHORS   Wang Z, Li H, Wang H, Li X, Zhang Q, Wang H, Li K and Qiu Y.
  TITLE     TRIM72 exerts antitumor effects in breast cancer and modulates
            lactate production and MCT4 promoter activity by interacting with
            PPP3CA
  JOURNAL   Anticancer Drugs 33 (5), 489-501 (2022)
   PUBMED   35324524
  REMARK    GeneRIF: TRIM72 exerts antitumor effects in breast cancer and
            modulates lactate production and MCT4 promoter activity by
            interacting with PPP3CA.
REFERENCE   6  (bases 1 to 8402)
  AUTHORS   Zhu H, Lin P, De G, Choi KH, Takeshima H, Weisleder N and Ma J.
  TITLE     Polymerase transcriptase release factor (PTRF) anchors MG53 protein
            to cell injury site for initiation of membrane repair
  JOURNAL   J Biol Chem 286 (15), 12820-12824 (2011)
   PUBMED   21343302
  REMARK    GeneRIF: membrane-delimited interaction between MG53 and PTRF
            contributes to initiation of cell membrane repair
REFERENCE   7  (bases 1 to 8402)
  AUTHORS   Jung SY and Ko YG.
  TITLE     TRIM72, a novel negative feedback regulator of myogenesis, is
            transcriptionally activated by the synergism of MyoD (or myogenin)
            and MEF2
  JOURNAL   Biochem Biophys Res Commun 396 (2), 238-245 (2010)
   PUBMED   20399744
REFERENCE   8  (bases 1 to 8402)
  AUTHORS   Park EY, Kwon OB, Jeong BC, Yi JS, Lee CS, Ko YG and Song HK.
  TITLE     Crystal structure of PRY-SPRY domain of human TRIM72
  JOURNAL   Proteins 78 (3), 790-795 (2010)
   PUBMED   19967786
  REMARK    GeneRIF: Crystal structure of PRY-SPRY domain of human TRIM72.
REFERENCE   9  (bases 1 to 8402)
  AUTHORS   Han S, Kim-Howard X, Deshmukh H, Kamatani Y, Viswanathan P,
            Guthridge JM, Thomas K, Kaufman KM, Ojwang J, Rojas-Villarraga A,
            Baca V, Orozco L, Rhodes B, Choi CB, Gregersen PK, Merrill JT, James
            JA, Gaffney PM, Moser KL, Jacob CO, Kimberly RP, Harley JB, Bae SC,
            Anaya JM, Alarcon-Riquelme ME, Matsuda K, Vyse TJ and Nath SK.
  TITLE     Evaluation of imputation-based association in and around the
            integrin-alpha-M (ITGAM) gene and replication of robust association
            between a non-synonymous functional variant within ITGAM and
            systemic lupus erythematosus (SLE)
  JOURNAL   Hum Mol Genet 18 (6), 1171-1180 (2009)
   PUBMED   19129174
  REMARK    GeneRIF: Observational study and meta-analysis of gene-disease
            association. (HuGE Navigator)
REFERENCE   10  (bases 1 to 8402)
  AUTHORS   Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G,
            Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E,
            Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM,
            Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C,
            Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M,
            Clark LM, Cohn JD, Denys M, Detter JC, Dickson M,
            Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos
            D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady
            DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand
            CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H,
            Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y,
            Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ,
            Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S,
            Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer
            J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH, Scott
            D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R, Tesmer
            JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M, Tsai M,
            Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL, Wills PL,
            Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA, Deaven L,
            Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler EE, Gilna
            P, Lucas SM, Myers RM, Rubin EM and Pennacchio LA.
  TITLE     The sequence and analysis of duplication-rich human chromosome 16
  JOURNAL   Nature 432 (7020), 988-994 (2004)
   PUBMED   15616553
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK131485.1, DRR138518.499365.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2158800,
            SAMEA2162946 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000322122.8/ ENSP00000312675.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK131485.1, AC009088.9 and DA058421.1.
            On Nov 23, 2018 this sequence version replaced NM_001008274.3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8402
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..8402
                     /gene="TRIM72"
                     /gene_synonym="MG53"
                     /note="tripartite motif containing 72"
                     /db_xref="GeneID:493829"
                     /db_xref="HGNC:HGNC:32671"
                     /db_xref="MIM:613288"
     misc_feature    160..162
                     /gene="TRIM72"
                     /gene_synonym="MG53"
                     /note="upstream in-frame stop codon"
     CDS             187..1620
                     /gene="TRIM72"
                     /gene_synonym="MG53"
                     /note="mitsugumin-53; tripartite motif containing 72, E3
                     ubiquitin protein ligase"
                     /codon_start=1
                     /product="tripartite motif-containing protein 72"
                     /protein_id="NP_001008275.2"
                     /db_xref="CCDS:CCDS32437.1"
                     /db_xref="GeneID:493829"
                     /db_xref="HGNC:HGNC:32671"
                     /db_xref="MIM:613288"
                     /translation="MSAAPGLLHQELSCPLCLQLFDAPVTAECGHSFCRACLGRVAGEP
                     AADGTVLCPCCQAPTRPQALSTNLQLARLVEGLAQVPQGHCEEHLDPLSIYCEQDRALV
                     CGVCASLGSHRGHRLLPAAEAHARLKTQLPQQKLQLQEACMRKEKSVAVLEHQLVEVEE
                     TVRQFRGAVGEQLGKMRVFLAALEGSLDREAERVRGEAGVALRRELGSLNSYLEQLRQM
                     EKVLEEVADKPQTEFLMKYCLVTSRLQKILAESPPPARLDIQLPIISDDFKFQVWRKMF
                     RALMPALEELTFDPSSAHPSLVVSSSGRRVECSEQKAPPAGEDPRQFDKAVAVVAHQQL
                     SEGEHYWEVDVGDKPRWALGVIAAEAPRRGRLHAVPSQGLWLLGLREGKILEAHVEAKE
                     PRALRSPERRPTRIGLYLSFGDGVLSFYDASDADALVPLFAFHERLPRPVYPFFDVCWH
                     DKGKNAQPLLLVGPEGAEA"
     misc_feature    949..951
                     /gene="TRIM72"
                     /gene_synonym="MG53"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A0JPQ4; propagated from
                     UniProtKB/Swiss-Prot (Q6ZMU5.2); phosphorylation site"
     regulatory      3356..3361
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRIM72"
                     /gene_synonym="MG53"
                     /note="hexamer: AATAAA"
     polyA_site      3376
                     /gene="TRIM72"
                     /gene_synonym="MG53"
                     /note="major polyA site"
     regulatory      4005..4010
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRIM72"
                     /gene_synonym="MG53"
                     /note="hexamer: AATAAA"
     polyA_site      4025
                     /gene="TRIM72"
                     /gene_synonym="MG53"
     regulatory      8381..8386
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRIM72"
                     /gene_synonym="MG53"
                     /note="hexamer: ATTAAA"
     polyA_site      8402
                     /gene="TRIM72"
                     /gene_synonym="MG53"
ORIGIN
        1 actgtgtgcc catcacgcgt ggtgtccact gccagctgcc cctgtgagtc cctgtccttg
       61 cttggagcct gctgcttgtc tcagatcctt ggacccagcc ctgaccccag tccagctaag
      121 ctcaaccctg accggtcctc cttcgagact ctttcagcct aagatctcca accagacctg
      181 cccgccatgt cggctgcgcc cggcctcctg caccaggagc tgtcctgccc gctgtgcctg
      241 cagctgttcg acgcgcccgt gacagccgag tgcggccaca gtttctgccg cgcctgccta
      301 ggccgcgtgg ccggggagcc ggcggcggat ggcaccgttc tctgcccctg ctgccaggcc
      361 cccacgcggc cgcaggcact cagcaccaac ctgcagctgg cgcgcctggt ggaggggctg
      421 gcccaggtgc cgcagggcca ctgcgaggag cacctggacc cgctgagcat ctactgcgag
      481 caggaccgcg cgctggtgtg cggagtgtgc gcctcactcg gctcgcaccg cggtcatcgc
      541 ctcctgcctg ccgccgaggc ccacgcacgc ctcaagacac agctgccaca gcagaaactg
      601 cagctgcagg aggcatgcat gcgcaaggag aagagtgtgg ctgtgctgga gcatcagctg
      661 gtggaggtgg aggagacagt gcgtcagttc cggggggccg tgggggagca gctgggcaag
      721 atgcgggtgt tcctggctgc actggagggc tccttggacc gcgaggcaga gcgtgtacgg
      781 ggtgaggcag gggtcgcctt gcgccgggag ctggggagcc tgaactctta cctggagcag
      841 ctgcggcaga tggagaaggt cctggaggag gtggcggaca agccgcagac tgagttcctc
      901 atgaaatact gcctggtgac cagcaggctg cagaagatcc tggcagagtc tcccccaccc
      961 gcccgtctgg acatccagct gccaattatc tcagatgact tcaaattcca ggtgtggagg
     1021 aagatgttcc gggctctgat gccagcgctg gaggagctga cctttgaccc gagctctgcg
     1081 cacccgagcc tggtggtgtc ttcctctggc cgccgcgtgg agtgctcgga gcagaaggcg
     1141 ccgccggccg gggaggaccc gcgccagttc gacaaggcgg tggcggtggt ggcgcaccag
     1201 cagctctccg agggcgagca ctactgggag gtggatgttg gcgacaagcc gcgctgggcg
     1261 ctgggcgtga tcgcggccga ggccccccgc cgcgggcgcc tgcacgcggt gccctcgcag
     1321 ggcctgtggc tgctggggct gcgcgagggc aagatcctgg aggcacacgt ggaggccaag
     1381 gagccgcgcg ctctgcgcag ccccgagagg cggcccacgc gcattggcct ttacctgagc
     1441 ttcggcgacg gcgtcctctc cttctacgat gccagcgacg ccgacgcgct cgtgccgctt
     1501 tttgccttcc acgagcgcct gcccaggccc gtgtacccct tcttcgacgt gtgctggcac
     1561 gacaagggca agaatgccca gccgctgctg ctcgtgggtc ccgaaggcgc cgaggcctga
     1621 gccgccggac gggtagtgga ggggcgcggg ggcctgggtt gaagcttagg tctccttggt
     1681 cgggtctgac gggagaaggg tggggagcgg gttgccaggg cccagggggc tgggaactgg
     1741 gggatctccc agaatactga caagcgtggg gtaggactgg cttggtggct catgcctgta
     1801 atcccagcac tttgggagac ggaggcgggt ggatcacctg aggtcaggag ttcaagacca
     1861 gcctggccaa catggtgaaa ctcctctcta ctgaaaatac aaaaatgagc tgggcgcggt
     1921 ggcatacgcc tgtaatccca gctagttggg aggctgaggc aggataattg cttgaaccca
     1981 ggaggtggag gttgcagtga gcagacattg cggcactgca ctctagcctg ggtgacaaga
     2041 gtgagactct gtctcaaaaa aaaaaaaaag tgtgggggtt ggcatggcct ggggactgct
     2101 ggtgaggggt tggagtgacg ctggggacaa gacccagtgg ggtagggaga tctggagtca
     2161 ggtcagtggg gaaatcagaa tttgggaacc aggaggcctg agaattccag gaagaaacta
     2221 aggttgagcg agggagggac agggccaggt tgggggattg atgggaggag cttgagaacc
     2281 tgtagataag gggctccttt tgcctcacac tcccctcctc cttaggcctt gggtcccccg
     2341 ctccagattc accttaccca aaagccttct ccttagttct ccaccttagg catgcattaa
     2401 aatcaccttt ttaaagccct tagccatgac ttgttaaagc atagggtgct aagtttctga
     2461 tttagtaggt tggacaggtc aaaaatgctc atttcttttt tttatttctt tttttttttt
     2521 tttttttttt ttttgagaca gagtcttgct ctgtcactca aggctagagt gcagtggtgc
     2581 catctcggct cactgcaacc tctgcctcca gggttcaagc aattctcatg cctcagcctc
     2641 ccaagtagct gggactacag acgcccgcca ccacacctgg ctatttattt ttatttttag
     2701 taggggtttc actatgttgg ccaagctggt ctcgaactcc tgacctcaag tgattcaccc
     2761 gccttggcct cccatagtgc tgggattaca gacatgagcc actgcacctg gctgaaaatg
     2821 ctcatttttt tttttttaat ttagtttttg tagaaatggt gtctcgttac attgcccagg
     2881 ctgatcttga actcttggcc tcaggtgatc ctcctgcctt ggccttccaa gtgctgggat
     2941 tacaggtgtg agccaccacg ccctgccaaa aatgtgcatt tctagcaggt tcccaggtga
     3001 cgctgctggc cacaggggct gacgctgcgg gaagccctga cctagtgcac aacccattgg
     3061 gctcttcact gtcagtgtag aggcataggt ccaaaatatg tttccccagt caaaaacatg
     3121 taaggtttgc accaggagtg gaaggaaaca aacaaacata aaccaaagca aagacactta
     3181 agggctgggt actcatgcct gtaaacccaa cactttggga gtttgaggca ggaggctcat
     3241 ttgaggccag gagtttgaga ccagcctggg gaacatagtg agaccctgtt gcaacaaaaa
     3301 ccagaaaaac aacaaaaaga agacattgga aaatggctgg agctgattct aggtgaataa
     3361 acaaccctcg acttaacttg ctttgcctct gggatatgtt tatcgagcgt cttgaacgtt
     3421 gaggaagcca gccaagagaa agagcctgat gccaaggtca cactggtccc tgctgctcat
     3481 ggggaagaga aggcccccaa ctagatgtcc cagaactggc cgctccccac ttacttgctg
     3541 gttcacacct tctttggttt tagcgcacag ggcatttctt gggctctgga gtaaccactg
     3601 aggccagagt gagagtccct cttccctgga gggagaggcc tttggggatc cagacaggct
     3661 tctctcctga gggaagacgc tggcctgggg tcactcattt tcacggggag ggtgtgctgg
     3721 cgggatgggt ggaagggcct ggggccccgg cagcccattg cggaggtttt ctcgggagat
     3781 ggtgggtatg ggactaaggg tgaaagggaa gttgtgagtt gggtaagaaa ggcctgagga
     3841 tctggcaggg gaaggcggca cacctgggtg tgtctcccag aggaaggcct gtggagccct
     3901 ggcttcagga gacagaagag aggattaacg gtagaagctc tttcatgtta gaaaataaaa
     3961 caatatagct aagggattat ttggttgtaa aatccaacac cattaataaa actgttatat
     4021 tctgactcct tcctcattaa atccacatga aaagacatgt gacctactgc aaggcctcct
     4081 aattgccctc cagcctttaa tcctgacttg gtaatgtttc caaaaatgca aatgtggtca
     4141 cgggactcag ttgctcaaaa ctttcaacaa ctccctcttg cctacaggat aaagccccca
     4201 gtctttggct tagcatttga gctgttctgc catttttttt gttggttggt ttgtttgttt
     4261 tgtttgagac agagtctcgc tctgtcgccc aggctggagt gcagtggtgt gatcaccgta
     4321 acctccgcct cctaggttca agggattctc ctgcctcagc ctcccgagta gctgggatta
     4381 caggtgcccg ccaggctggt ctcgaactcc tgacctcagg tgatccaccc attttggcct
     4441 cccaaagtgc tgggattaca ggctggcctt ccagcttcat ctgtttttag ttaaaaaaca
     4501 attttttttt ttgagacaag gtcttgctct gtcgcacagg ctggagtgca atggtgtgat
     4561 tgtggctcac tgcagccttg acctcctggg ctcacatgat cctcccactc cagcctcctg
     4621 agtagatagg atggcaggca cccatcacca tgcctgacta ttttttattt tttgtatttt
     4681 ggtagagatg aggtctcact atgttgctca tgctggtctc gagctcctgg cctcaagcga
     4741 tcctcccatc ttggcttccc aaagtgttgg gattacaggt gtgagccact gagcccagcc
     4801 cagcttcatc ttttatttta ttattatttt ttgagatgga gtctcaccgt gtcacccagg
     4861 ttagagtgca gtggtgtgat cttggctcac tgcaacctct gcctcccagg ttcaagtgat
     4921 cctcctgcct cagcctcccg agtagctggg actataggca ggtgacacta cgcctagctg
     4981 atttttgtat ttctagtggg gacaggggct tcactatgtt ggccagcctg gtctcgaact
     5041 cctgacctca ggggatcccc caactcggcc tcccaaagta ctaggattac aggcttgaac
     5101 cgccgcgccc agccccagct tcatcttaaa aagaaaagtt ctctgtttta atatctaaca
     5161 gggcaaatat tgaaagataa aaccacataa caaaagctct ttgggatcct agtgttgggg
     5221 aaaggctgct gtccattgac tgtcactgaa ctctctgtca ttgctcaggc taaggactgg
     5281 ccacagtgag ggagggacct gtggtctcct gtgttgctcc tcaccctgta gactgtgggc
     5341 tgtgggctgt gtccagcctc accttggatc accgccctgt gcatgtctac actctggcta
     5401 tgctgaactg aactgctggg gtctctgcac ctcctttttt tttttttttt ttttgagatg
     5461 cagtcttgct ctgtcgccca ggctggagtg caatggtgct atctcagctc actgcaacct
     5521 ctgcctccca ggttcaagtg attctcctgc ctcagcctcc gcagtagcta ggattacagg
     5581 cacccaccac cacgccaggt tagttttttc atttttattt gtatttttag tagaggcggg
     5641 gttttgccat gttggccagg ctgatctcga actcctgacc tcaaatgatc tgcccgcctc
     5701 agcctcccaa agtgctggga ttacaggcat gagctgtcgg gcctggcccc tgcacttctt
     5761 ttttaggaat gtcagttccc tcccacttat ccttcatggc tctcccaaaa caccaccatt
     5821 tcctgtcctc tcttgacctt ctaggcctcc aggaagaatc agttactctc ctctctggat
     5881 cgcccagcag ctcctccacc atgtgtagcc cacggcattg aattgtctac acacaggcca
     5941 tggtgtctgg agggatggtg gtatctgaga cccaaagcct ccttctgagg aaatgggtac
     6001 tctgagaagc agatgccaag ataggattaa atgggcagag attttaggag ggaagatgcc
     6061 catgtgaggg aagatgggga gggccatcag accgtgtcgc aagtctgctg ttcgtgtggg
     6121 agggagggag ggaaggctct tgtggcgtct ccggcagcca gagccaccgt ccaaacactc
     6181 ctgtgccttc cgggacccgg gctggcttta gtctccctgc agagctgagt aatgtatgct
     6241 gccttttgtt ggaattatat caggaaactt tctttcgaag ctgccacagg ttctttctgc
     6301 gtatagttgc cccagcttga gctgcatgca ttgaaggaaa tggcccatgg ctgactgagt
     6361 gaggtgggct ttgtgggaaa agctgcgtaa tccaggtggt ccttgtcggg tggggctgcc
     6421 tgacccaggc agggtctccc tggggatgta ggaaggtgaa atgtgaacag agaaaggagt
     6481 tcctccagca catgtgttct aaagcaccag cgtcccctcc gtgagtccct cctctccacg
     6541 ggaacgctgg aaacccccag aaactggctg ccaagacatt tcctgtgttt cctgacatct
     6601 ttaggtagca taatagcaaa cttgaacctg ccaaggccat gataaaactg caagcaagaa
     6661 catttatcgt ggccaggtgc agtggctcac gcctgtaatc ccagcacttt tggaggttga
     6721 ggcgggtgaa tcacctgagg tcaggagttc gagaccagtc tggtcaacat ggtgaaaccc
     6781 catctttact aaaaatacaa aaattagcca ggcatggtgg tgcatgcctg caatcccagc
     6841 tactcaggag gctgaggcag gagaatcact tgaacctggg aggcagaggt tccgatgagc
     6901 tgagatcggg ccactgcatt ccagtctggg tgagagagtt aaaacaggaa ttaaaagaaa
     6961 ttaaagaatg tgtaagcaaa aactcagttg tatgtaagaa aaccccattc accctgagga
     7021 agagaaagag ctaaagtcct ttaaaaatta actgcctgtt tttctgtgga tagtgagcct
     7081 tatctctctc cctttcccag gcattgtgaa gaccctgttt ctctagctgt gcagctgcaa
     7141 ggtcactagg cagataaact caagtcataa aacatgtttt tccttgaaaa gtaaaaaatg
     7201 atgtaatgca tgtctcaact gaataactgt ctttgtttct tgcttctgta atatgcttcc
     7261 ccctgcacag atctccccct gccccacaaa atgcttaaaa ggtaaccgga gccgggcgtg
     7321 gtggctcacg cctgtaatcc cagcactttg ggaggctgag gcaggcggat catgaggtca
     7381 ggagatcgag accgtcctgg ttaacatgtt gaaaccccgt ctctactaaa aatacaaaaa
     7441 attagccggg cgtggtggca ggcacctgta gtcccagcta cttgggaggc tgaggcagga
     7501 gaatggcctg aacccgggag gcggagcttg cagtgagccg agatggcgcc actacactcc
     7561 agcctgggtg acagagcgag actccgcctc aaaaaaaaaa aaaaaaaaag gtaaccggac
     7621 tctttgttca gggctcagtc tttttggatg ttaatctgac cgggccagtg cacctaacta
     7681 aataataaat aataagtatc ctcctcaacc tcttggtctc tctgattcct aaattatccc
     7741 actgcagaat gagactctgt ctcaaaggaa aaaaaagaaa atttattgag accttattat
     7801 gcgtcaatag ctctctattc agaatctcac tgatcttcgc aaccctggat ctcacaacaa
     7861 cgagagcccc actaggttgc ctcttttgtt ttgttttgtt ttttttttga gatggagtct
     7921 cactgtctcc caggctggag tgcagtggcg tgatctcggc tcactgcaac ctccgccctc
     7981 tgggttcacg ccattctcct gcctcagcct cccaagtagc tgggactaca ggcgcccgcc
     8041 accatgcctg gttaattttt ttgtattttt agtagagacg gggtttcacc atgtttgcca
     8101 ggatggtctc catctcctga cctcgtgatc cgcccgcctc ggcctcccaa agtgctggga
     8161 ttacaggcgt gagccaccgc gtccggctta ggttgcctct tatactgggt tcacgcatcc
     8221 cctgggtgca tgacagtctg accacaaagg accccggtcc acagaagcat gatgcatctt
     8281 ggagtatcga ctttatgcca atattcttct tcttgatact ggtggtggtg agaaagttgg
     8341 gtaatttaac caaaagtaaa aatcaagatg tcacgttccc attaaaacaa acatagagta
     8401 ca
//
LOCUS       NM_001008387             936 bp    mRNA    linear   PRI 12-SEP-2021
DEFINITION  Homo sapiens regenerating family member 3 gamma (REG3G), transcript
            variant 1, mRNA.
ACCESSION   NM_001008387
VERSION     NM_001008387.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 936)
  AUTHORS   Gajawada P, Cetinkaya A, von Gerlach S, Kubin N, Burger H, Nabauer
            M, Grinninger C, Rolf A, Schonburg M, Choi YH, Kubin T and Richter
            M.
  TITLE     Myocardial Accumulations of Reg3A, Reg3gamma and Oncostatin M Are
            Associated with the Formation of Granulomata in Patients with
            Cardiac Sarcoidosis
  JOURNAL   Int J Mol Sci 22 (8), 4148 (2021)
   PUBMED   33923774
  REMARK    GeneRIF: Myocardial Accumulations of Reg3A, Reg3gamma and Oncostatin
            M Are Associated with the Formation of Granulomata in Patients with
            Cardiac Sarcoidosis. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 936)
  AUTHORS   Shen M, Wang Q, Xu S, Chen G, Xu H, Li X and Zhao S.
  TITLE     Role of oncogenic REGgamma in cancer
  JOURNAL   Biomed Pharmacother 130, 110614 (2020)
   PUBMED   32935661
  REMARK    GeneRIF: Role of oncogenic REGgamma in cancer. Review article
REFERENCE   3  (bases 1 to 936)
  AUTHORS   Tong L, Shen S, Huang Q, Fu J, Wang T, Pan L, Zhang P, Chen G, Huang
            T, Li K, Liu Q, Xie S, Yang X, Moses RE, Li X and Li L.
  TITLE     Proteasome-dependent degradation of Smad7 is critical for lung
            cancer metastasis
  JOURNAL   Cell Death Differ 27 (6), 1795-1806 (2020)
   PUBMED   31767934
  REMARK    GeneRIF: Proteasome-dependent degradation of Smad7 is critical for
            lung cancer metastasis.
REFERENCE   4  (bases 1 to 936)
  AUTHORS   Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and
            Mollon JD.
  TITLE     Variants in the 1q21 risk region are associated with a visual
            endophenotype of autism and schizophrenia
  JOURNAL   Genes Brain Behav 13 (2), 144-151 (2014)
   PUBMED   24152035
REFERENCE   5  (bases 1 to 936)
  AUTHORS   Lee KS, Kalantzis A, Jackson CB, O'Connor L, Murata-Kamiya N,
            Hatakeyama M, Judd LM, Giraud AS and Menheniott TR.
  TITLE     Helicobacter pylori CagA triggers expression of the bactericidal
            lectin REG3gamma via gastric STAT3 activation
  JOURNAL   PLoS One 7 (2), e30786 (2012)
   PUBMED   22312430
  REMARK    GeneRIF: a model of CagA-directed REG3gamma expression in gastric
            epithelial cells via activation of the IL-11/gp130/STAT3 pathway
REFERENCE   6  (bases 1 to 936)
  AUTHORS   Cash HL, Whitham CV, Behrendt CL and Hooper LV.
  TITLE     Symbiotic bacteria direct expression of an intestinal bactericidal
            lectin
  JOURNAL   Science 313 (5790), 1126-1130 (2006)
   PUBMED   16931762
  REMARK    GeneRIF: This gene encodes a secreted peptide that displays
            antimicrobial activity against Gram-positive bacteria.
REFERENCE   7  (bases 1 to 936)
  AUTHORS   Laurine E, Manival X, Montgelard C, Bideau C, Berge-Lefranc JL,
            Erard M and Verdier JM.
  TITLE     PAP IB, a new member of the Reg gene family: cloning, expression,
            structural properties, and evolution by gene duplication
  JOURNAL   Biochim Biophys Acta 1727 (3), 177-187 (2005)
   PUBMED   15777617
  REMARK    GeneRIF: PAP IB represents a good example of duplication and
            divergence, probably with the acquisition of new functions, thus
            participating in the evolution of the protein repertoire.
REFERENCE   8  (bases 1 to 936)
  AUTHORS   Zhang Z and Henzel WJ.
  TITLE     Signal peptide prediction based on analysis of experimentally
            verified cleavage sites
  JOURNAL   Protein Sci 13 (10), 2819-2824 (2004)
   PUBMED   15340161
REFERENCE   9  (bases 1 to 936)
  AUTHORS   Nata K, Liu Y, Xu L, Ikeda T, Akiyama T, Noguchi N, Kawaguchi S,
            Yamauchi A, Takahashi I, Shervani NJ, Onogawa T, Takasawa S and
            Okamoto H.
  TITLE     Molecular cloning, expression and chromosomal localization of a
            novel human REG family gene, REG III
  JOURNAL   Gene 340 (1), 161-170 (2004)
   PUBMED   15556304
  REMARK    GeneRIF: REG III was identified and expressed predominantly in
            pancreas and testis, but not in small intestine
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.97751.1, AB161038.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145544 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000272324.10/ ENSP00000272324.5
            Protein has antimicrobial activity :: PMID: 16931762
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB161038.1 and AK292595.1.
            On Nov 22, 2018 this sequence version replaced NM_001008387.2.
            Summary: This gene encodes a member of the regenerating
            islet-derived genes (REG)3 protein family. These proteins are
            secreted, C-type lectins with a carbohydrate recognition domain and
            N-terminal signal peptide. The protein encoded by this gene is an
            antimicrobial lectin with activity against Gram-positive bacteria.
            Alternative splicing results in multiple transcript variants
            encoding multiple isoforms. [provided by RefSeq, Nov 2014].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1 and 2
            encode the same isoform.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p12"
     gene            1..936
                     /gene="REG3G"
                     /gene_synonym="LPPM429; PAP IB; PAP-1B; PAP1B; PAPIB; REG
                     III; REG-III; UNQ429"
                     /note="regenerating family member 3 gamma"
                     /db_xref="GeneID:130120"
                     /db_xref="HGNC:HGNC:29595"
                     /db_xref="MIM:609933"
     misc_feature    76..78
                     /gene="REG3G"
                     /gene_synonym="LPPM429; PAP IB; PAP-1B; PAP1B; PAPIB; REG
                     III; REG-III; UNQ429"
                     /note="upstream in-frame stop codon"
     CDS             184..711
                     /gene="REG3G"
                     /gene_synonym="LPPM429; PAP IB; PAP-1B; PAP1B; PAPIB; REG
                     III; REG-III; UNQ429"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; regenerating gene III; regenerating
                     islet-derived protein 3-gamma; reg III-gamma;
                     pancreatitis-associated protein 1B; pancreatitis-associated
                     protein IB; regenerating islet-derived protein III-gamma;
                     REG-3-gamma; regenerating islet-derived 3 gamma"
                     /codon_start=1
                     /product="regenerating islet-derived protein 3-gamma
                     isoform 1 preproprotein"
                     /protein_id="NP_001008388.1"
                     /db_xref="CCDS:CCDS1962.1"
                     /db_xref="GeneID:130120"
                     /db_xref="HGNC:HGNC:29595"
                     /db_xref="MIM:609933"
                     /translation="MLPPMALPSVSWMLLSCLILLCQVQGEETQKELPSPRISCPKGSK
                     AYGSPCYALFLSPKSWMDADLACQKRPSGKLVSVLSGAEGSFVSSLVRSISNSYSYIWI
                     GLHDPTQGSEPDGDGWEWSSTDVMNYFAWEKNPSTILNPGHCGSLSRSTGFLKWKDYNC
                     DAKLPYVCKFKD"
     sig_peptide     184..261
                     /gene="REG3G"
                     /gene_synonym="LPPM429; PAP IB; PAP-1B; PAP1B; PAPIB; REG
                     III; REG-III; UNQ429"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     proprotein      262..708
                     /gene="REG3G"
                     /gene_synonym="LPPM429; PAP IB; PAP-1B; PAP1B; PAPIB; REG
                     III; REG-III; UNQ429"
                     /product="regenerating islet-derived protein 3-gamma
                     isoform 1 proprotein"
     mat_peptide     295..708
                     /gene="REG3G"
                     /gene_synonym="LPPM429; PAP IB; PAP-1B; PAP1B; PAPIB; REG
                     III; REG-III; UNQ429"
                     /product="regenerating islet-derived protein 3-gamma
                     isoform 1"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     16931762]"
     regulatory      917..922
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REG3G"
                     /gene_synonym="LPPM429; PAP IB; PAP-1B; PAP1B; PAPIB; REG
                     III; REG-III; UNQ429"
                     /note="hexamer: AATAAA"
     polyA_site      936
                     /gene="REG3G"
                     /gene_synonym="LPPM429; PAP IB; PAP-1B; PAP1B; PAPIB; REG
                     III; REG-III; UNQ429"
                     /note="major polyA site"
ORIGIN
        1 atccctgaga tctttttata aaaaacccag tctttgctga ccagacaaag cataccagat
       61 ctcaccagag agtcctaggg gactacagaa ggaaaaagac aagaggcagt aggatatctg
      121 tgtgtcctcc cgctgaccac acttccttta gtgacccgat tgcctcctca agtcgcagac
      181 actatgctgc ctcccatggc cctgcccagt gtgtcctgga tgctgctttc ctgcctcatt
      241 ctcctgtgtc aggttcaagg tgaagaaacc cagaaggaac tgccctctcc acggatcagc
      301 tgtcccaaag gctccaaggc ctatggctcc ccctgctatg ccttgttttt gtcaccaaaa
      361 tcctggatgg atgcagatct ggcttgccag aagcggccct ctggaaaact ggtgtctgtg
      421 ctcagtgggg ctgagggatc cttcgtgtcc tccctggtga ggagcattag taacagctat
      481 tcatacatct ggattgggct ccatgacccc acacagggct ctgagcctga tggagatgga
      541 tgggagtgga gtagcactga tgtgatgaat tactttgcat gggagaaaaa tccctccacc
      601 atcttaaacc ctggccactg tgggagcctg tcaagaagca caggatttct gaagtggaaa
      661 gattataact gtgatgcaaa gttaccctat gtctgcaagt tcaaggacta gggcaggtgg
      721 gaagtcagca gcctgagctt ggcgtgcagc tcatcatgga catgagacca gtgtgaagac
      781 tcaccctgga agagaatatt ctccccaaac tgccctacct gactaccttg tcatgatcct
      841 ccttcttttt cctttttctt caccttcatt tcaggctttt ctctgtcttc catgtcttga
      901 gatctcagag aataataata aaaatgttac tttata
//
LOCUS       NM_001008388            5878 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens CDGSH iron sulfur domain 2 (CISD2), mRNA.
ACCESSION   NM_001008388
VERSION     NM_001008388.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5878)
  AUTHORS   Ren X, Yu J, Guo L and Zhang Z.
  TITLE     CDGSH iron sulfur domain 2 mitigates apoptosis, oxidative stress and
            inflammatory response caused by oxygen-glucose
            deprivation/reoxygenation in HT22 hippocampal neurons by
            Akt-Nrf2-activated pathway
  JOURNAL   Metab Brain Dis 37 (7), 2417-2429 (2022)
   PUBMED   35819709
  REMARK    GeneRIF: CDGSH iron sulfur domain 2 mitigates apoptosis, oxidative
            stress and inflammatory response caused by oxygen-glucose
            deprivation/reoxygenation in HT22 hippocampal neurons by
            Akt-Nrf2-activated pathway.
REFERENCE   2  (bases 1 to 5878)
  AUTHORS   Karmi O, Sohn YS, Zandalinas SI, Rowland L, King SD, Nechushtai R
            and Mittler R.
  TITLE     Disrupting CISD2 function in cancer cells primarily impacts
            mitochondrial labile iron levels and triggers TXNIP expression
  JOURNAL   Free Radic Biol Med 176, 92-104 (2021)
   PUBMED   34547371
  REMARK    GeneRIF: Disrupting CISD2 function in cancer cells primarily impacts
            mitochondrial labile iron levels and triggers TXNIP expression.
REFERENCE   3  (bases 1 to 5878)
  AUTHORS   Sun CC, Lee SY, Kao CH, Chen LH, Shen ZQ, Lai CH, Tzeng TY, Pang JS,
            Chiu WT and Tsai TF.
  TITLE     Cisd2 plays an essential role in corneal epithelial regeneration
  JOURNAL   EBioMedicine 73, 103654 (2021)
   PUBMED   34740104
  REMARK    GeneRIF: Cisd2 plays an essential role in corneal epithelial
            regeneration.
REFERENCE   4  (bases 1 to 5878)
  AUTHORS   Liao HY, Liao B and Zhang HH.
  TITLE     CISD2 plays a role in age-related diseases and cancer
  JOURNAL   Biomed Pharmacother 138, 111472 (2021)
   PUBMED   33752060
  REMARK    GeneRIF: CISD2 plays a role in age-related diseases and cancer.
            Review article
REFERENCE   5  (bases 1 to 5878)
  AUTHORS   Kung WM and Lin MS.
  TITLE     The NFkappaB Antagonist CDGSH Iron-Sulfur Domain 2 Is a Promising
            Target for the Treatment of Neurodegenerative Diseases
  JOURNAL   Int J Mol Sci 22 (2), 934 (2021)
   PUBMED   33477809
  REMARK    GeneRIF: The NFkappaB Antagonist CDGSH Iron-Sulfur Domain 2 Is a
            Promising Target for the Treatment of Neurodegenerative Diseases.
            Review article Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5878)
  AUTHORS   Wiley SE, Paddock ML, Abresch EC, Gross L, van der Geer P,
            Nechushtai R, Murphy AN, Jennings PA and Dixon JE.
  TITLE     The outer mitochondrial membrane protein mitoNEET contains a novel
            redox-active 2Fe-2S cluster
  JOURNAL   J Biol Chem 282 (33), 23745-23749 (2007)
   PUBMED   17584744
REFERENCE   7  (bases 1 to 5878)
  AUTHORS   Wiley SE, Murphy AN, Ross SA, van der Geer P and Dixon JE.
  TITLE     MitoNEET is an iron-containing outer mitochondrial membrane protein
            that regulates oxidative capacity
  JOURNAL   Proc Natl Acad Sci U S A 104 (13), 5318-5323 (2007)
   PUBMED   17376863
REFERENCE   8  (bases 1 to 5878)
  AUTHORS   Shu SG, Tsai CR and Chi CS.
  TITLE     Wolfram syndrome: phenotype and novel mutation in two Taiwanese
            siblings
  JOURNAL   J Formos Med Assoc 102 (11), 808-811 (2003)
   PUBMED   14724730
  REMARK    GeneRIF: Novel mutation, new phenotypic variant with no diabetes
            insipidus, presence of peptic ulcer disease, platelet aggregation
            defect
REFERENCE   9  (bases 1 to 5878)
  AUTHORS   al-Sheyyab M, Jarrah N, Younis E, Shennak MM, Hadidi A, Awidi A,
            el-Shanti H and Ajlouni K.
  TITLE     Bleeding tendency in Wolfram syndrome: a newly identified feature
            with phenotype genotype correlation
  JOURNAL   Eur J Pediatr 160 (4), 243-246 (2001)
   PUBMED   11317648
REFERENCE   10  (bases 1 to 5878)
  AUTHORS   El-Shanti H, Lidral AC, Jarrah N, Druhan L and Ajlouni K.
  TITLE     Homozygosity mapping identifies an additional locus for Wolfram
            syndrome on chromosome 4q
  JOURNAL   Am J Hum Genet 66 (4), 1229-1236 (2000)
   PUBMED   10739754
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.39033.1,
            SRR1803616.114659.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000273986.10/ ENSP00000273986.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018797.4, AK292134.1,
            BX537971.1 and AC083826.7.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 31, 2018 this sequence version replaced NM_001008388.4.
            Summary: The protein encoded by this gene is a zinc finger protein
            that localizes to the endoplasmic reticulum. The encoded protein
            binds an iron/sulfur cluster and may be involved in calcium
            homeostasis. Defects in this gene are a cause of Wolfram syndrome
            2. [provided by RefSeq, Mar 2011].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5878
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q24"
     gene            1..5878
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="CDGSH iron sulfur domain 2"
                     /db_xref="GeneID:493856"
                     /db_xref="HGNC:HGNC:24212"
                     /db_xref="MIM:611507"
     CDS             94..501
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="zinc finger, CDGSH-type domain 2; endoplasmic
                     reticulum intermembrane small protein; mitoNEET-related 1
                     protein; nutrient-deprivation autophagy factor-1"
                     /codon_start=1
                     /product="CDGSH iron-sulfur domain-containing protein 2"
                     /protein_id="NP_001008389.1"
                     /db_xref="CCDS:CCDS34040.1"
                     /db_xref="GeneID:493856"
                     /db_xref="HGNC:HGNC:24212"
                     /db_xref="MIM:611507"
                     /translation="MVLESVARIVKVQLPAYLKRLPVPESITGFARLTVSEWLRLLPFL
                     GVLALLGYLAVRPFLPKKKQQKDSLINLKIQKENPKVVNEINIEDLCLTKAAYCRCWRS
                     KTFPACDGSHNKHNELTGDNVGPLILKKKEV"
     misc_feature    205..273
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N5K1.1);
                     transmembrane region"
     regulatory      1269..1274
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="hexamer: ATTAAA"
     polyA_site      1292
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="major polyA site"
     regulatory      1617..1622
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="hexamer: AATAAA"
     polyA_site      1643
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="major polyA site"
     regulatory      2296..2301
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="hexamer: AATACA"
     polyA_site      2313
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
     regulatory      5855..5860
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
                     /note="hexamer: AATAAA"
     polyA_site      5878
                     /gene="CISD2"
                     /gene_synonym="ERIS; Miner1; NAF-1; WFS2; ZCD2"
ORIGIN
        1 agtgcccgcc ggccgcttcc gctcccggcg caggcgcggc agcttggcca gagcggaggg
       61 ggctcgggag aggagtggac gccgctggcc aggatggtgc tggagagcgt ggcccgtatc
      121 gtgaaggtgc agctccctgc atatctgaag cggctcccag tccctgaaag cattaccggg
      181 ttcgctaggc tcacagtttc agaatggctt cggttattgc ctttccttgg tgtactcgca
      241 cttcttggct accttgcagt tcgtccattc ctcccgaaga agaaacaaca gaaggatagc
      301 ttgattaatc ttaaaataca aaaggaaaat ccgaaagtag tgaatgaaat aaacattgaa
      361 gatttgtgtc ttactaaagc agcttattgt aggtgttggc gttctaaaac gtttcctgcc
      421 tgcgatggtt cacataataa acacaatgaa ttgacaggag ataatgtggg tccactaata
      481 ctgaagaaga aagaagtata ataataataa caatattttc tcattctttg tgtatagaaa
      541 attttaaaat ggtggtctta attattacta ctggttgaac aattatttct tccaatttat
      601 tttcttcctg cactactgtt tgtatttgat cctttgtcta ttcagtcact taattagaaa
      661 ttaaattgtc aagcctctta ttctgacttc aaagaattaa tgtatcttcc aacaataaaa
      721 tcacttctga ttttaatcta ggaaaaccta aattgtggct atggatccaa agctgtttgt
      781 ttctttgaat atcaatattt tcaacaggat cttgtattta aaattcccac ctacattgtt
      841 aaatatgtta ttttttcata tctcttttgg ttttgataat ctgaagtgtt tttttctcgt
      901 tttggccttc caaactgcat ttggttaggt gaattaagaa aaatattgcc atcaagaatt
      961 acttgtgttt tcacagagat agactctttg ctttatagag attgttgtgt atttaatatg
     1021 aatatcccag ctttagaaaa gaagtaaact ggatacaaaa agttccattg aggaacagtt
     1081 atttacagta taaaagattt gtttacttta caaaaggctt gtgtctgtgt gtgtgtgtgt
     1141 gtgtgtgtgt gtgtatttta aactgactca gtgacagctg gggtggaatg gcaagaacac
     1201 ttacaaccaa actcatgggc tgctgcaatt tgaagataat tggtaataaa cataagacat
     1261 taattcatat taaaatagtt cagtgttcaa aattgtgttt atgtggatat ttttctcttt
     1321 ttaacactat aaaccattaa aatacagtca tcccttgtat acgctaggga ctggttccag
     1381 ggccacacat ataccaaaat ctgcccatac tcaagtccca cagaaagtct tgcagaaccc
     1441 atatgtagaa aagttggccc tccagttgac cctccgtaca catgagtttc acatcccatg
     1501 cacaaatgct gatctgtgtg acctcacctg catttgattg aaaaaagtat gcgcgtaatt
     1561 gtacccaccc agttcaaacc cgtgtgtaag ggtcaactgt acaaaaaagt ttgtgaaata
     1621 aacgtactgg agaatcttta aaatttttgt gctttttaat cctactatta tgaatctttt
     1681 tagtttcatc ttacattact actctcataa tagctatcct tagccaggtg ccatggcaca
     1741 ggcctgtagt cccaactgct gggaagattg aggtgggagg atggctgcag tacaagagcc
     1801 caggagttca aggccaggct gggcaaccta gtgctccgcc tctgctgggc tctgtaggga
     1861 atcctttctg ttgtaaaaga gttaccattt aactcccttc actgagtgcg tttctgagac
     1921 cttgctaggc actctggaaa ctgcttagtt gagaaaagac aaatacaaaa gcttttcttt
     1981 agtctattta agatacagtt tattcagttc actttgcttt ctttttataa gaatgtacaa
     2041 gaggcagaca gaggtaatcc ttctagaaat aaaactaatt gttattgggc acttgtatgt
     2101 accagacact acactaagca tggtacttgg gtttttaatt tattacatgt aatgtcagta
     2161 ggttcaatta tatgatcgta acatcttcat gaccagcagc atgtatttta gagttagaaa
     2221 tgtagtctgg tttttgagaa gttttacaag gtgtatgtcc aaaattgttc tttcctcaca
     2281 tgtcagtggg ggataaatac agcattgctc tcacttcttt gactctgggt gctttttcgg
     2341 atacattttc ttcaacactg ttaaggggcc tcactgtcag attaaccaat tatttttcca
     2401 cagttggtca ccagactttg gaaaaaatcc acctcaccaa aattttggat atcctgatct
     2461 gtgttcatga aatgctcttc tttttgtaaa atctatcact gcatctcaca gcaacttgtt
     2521 ttcacacatg ttctagtggt tcccataact tagattttac aggaggcaaa tttactaaaa
     2581 atgaggagac taaaatgaat gaccaacttt gaattttgtc aaataacatt gaaaatgaat
     2641 tatctcataa aaggtaattt taatacccca aaagtaagat ggttgtactc tcagaataaa
     2701 gactttttcc ctgccacatt ttcagttgtt aaaatatgct aagagctatg cccatatctt
     2761 ttcccacctg tgcacatttt tcagaagcgt agggttggta gtaagctgtt gctttaataa
     2821 ctcctttaaa taagcattat tagcagtttg cattacttct tgtaaattta cacaatttta
     2881 tcttgtccat ctttaaaaaa tagacatcta ataaccaaat gtatttgaat tgatgcagtg
     2941 taagtaactt gtagaacttg aggataagtg gtaaaagaaa aaaaaaagta acttggctct
     3001 tgaaatacat gtcttcggtt tctagagcct tcaaaataca gccctgttgt tactgcgtca
     3061 catgattgtt ttgaggactg cttctgctta cctaggaaac tactcatgcc ttactcagca
     3121 aatgaacatc actattacat aaacatcagg tatccaaaag tgttagcagg cttgaggtat
     3181 gaatgattca ttcatatggg taattaagca agttgaatta tggaaagcac ctcacaattc
     3241 acacaattca gctttgagtt caatgccaaa tacgatgatt cattaagttg actttgtatt
     3301 ttgtaaccta atttgttaat aagtaagtta caggaagcca attaagccag ctgctgatct
     3361 atatagtact accttcctca ttgtgattcc atagtcttcc aatagaaatg tgctgtcaga
     3421 atctgtatag agagtttgta aatgccacta tttaacaagg ttcttaagaa tttaggtgga
     3481 tgttttattt gatacctacc aaagaagcct aagtaattgt ataatactta acccatttag
     3541 aattcagttg tggcagcata accaatctgg agagaccagg ggagatgtta ctaatgcttg
     3601 tactttattc agaaatgagt gcctcattgg cttggtgcag tgacgacaca cctgtaatct
     3661 cagcactttg ggaggctgag gtgggtggag tacttgatct caggagtacc ataccagctt
     3721 gggcaacgtg gtgagatctc atctctacag aaaaatgcaa aaattagccg ggcacagtgg
     3781 cgcaccagta gtcccagtta ctcgggaggc tgaggcacaa gaatctcttg agttgaggag
     3841 gccaaggttg cagtgagcca agattgtgcc actgcactcc agcctgggca acagaagtga
     3901 aaccctatct taaaaaaaaa aaaagtcttt tttttttttc atctaatcaa atttattgtg
     3961 gcagaaatca gtacgaagtt cgtaggacag gaggaaacca atataaatat ctcagcattg
     4021 taggaaattt aacccatgga aagcaggggt gaattaaaga ccactttgaa ggctgggaaa
     4081 agcagataat ttagatatag tcaaagtatg aaatcattga tagatccaga acaaggaaat
     4141 gatgtatgtg tttacatatt acatctactt tattaacaat tttccctctg ttaaactaat
     4201 atcgactaat agtagtctag gtaagtcaag ttcaaattaa gtggtaattg aaaaagtctt
     4261 ctttttaaaa aatttttaat ggtagaggca gcagctaccc agagtctact tattcttact
     4321 tcacattgaa ttctaacaag tttggttatc tgatttctgc ttcttaacaa atcacaagta
     4381 tcaaaagggt cttgcagaag gggtgaacta caaaatgtga cagctgacag caagtcaggg
     4441 gaacaaaaat aaatttaagg tgaacattaa aggcatagca gcttgagaca atttatagga
     4501 ttctgcatac aactgtctct gaggacatca ctgtgatcaa attatacaag tgatgtttag
     4561 tgatgaattg gaatcaagat aagtagtatg tgttattcaa aaaggcagga tatgtgttgc
     4621 atttggtggt aacaatttcc ccttagctat ttagttaaaa gcttagtgct taacatgttg
     4681 gaaaatttat atgtaaaata tattgactta ctcgatgatt ggaggcttta tcacaggaag
     4741 ttttcccatt caattgaaac atttttcaag cttaatgact ataatttact acataattat
     4801 ttattttgtt aaagtttgag gaaaactaaa taaagcagta gcaatttaag tcataataaa
     4861 ttttgttaga tgacttcttc cactttaggg ggaattaaaa atcatgttta aaaaccacat
     4921 gtgcagcagt tctgtgactc cctcaacatc cggttggcca tatagtccct ttgcaccaca
     4981 gaggttggag tatagaatat gcccaaagct gttttgtttt gttttaacta tgcttcatca
     5041 tctgaggttg tgttaacata gtttgtccta atagtctttt actggaaact tgctatattt
     5101 gatcatgttc agcaagtaaa ctaattttat ctactttcat atattttgag acaaagtctg
     5161 gccctgtcac ccaggctgga gtgcgggggc atgatcgtag ctcactgcag cctcagcctc
     5221 ttgtgctcaa gcgatcctcc cacctcagcc tcccaagtag ctgagactac agtcatgctt
     5281 catcatgccc ggctaatttt ttatttttct aagagacaga gtctcactgt gttacccagg
     5341 ctggtctcga agtcctggac tcaagtgatc ctccctgcct cagcactccc aaagtgctgg
     5401 gattgcaggc atgagcaacc atgcctggtg ttttatcttt tgcagaaatc caatttagta
     5461 aagtcatgtt gtagcaagca tcactttaat ataaaaagtg tacagcttat attattagca
     5521 attgtactgt ttaattttat attagttatg gtcttgaagg acattgaaaa tctgttcaga
     5581 aagactatgt ttttcaacca gagatgacat cactctaact ttcctttggt ttaaatgctt
     5641 gattcttcgc ttacaaaact tctgttttga acaactatgg tgagaaagta tatttgtgat
     5701 actgttttct tagaacactg ttgtcagata gatcagccat aatgttaaca catttctgat
     5761 ctctattata aggctgtaat tttccaaaat aatacagaaa aggagaaaag ggtagtacat
     5821 ttcataatta gagataaccc tgtactagtg agaaaataaa aatgtcaagt ttattaaa
//
LOCUS       NM_001008390            4548 bp    mRNA    linear   PRI 24-MAR-2023
DEFINITION  Homo sapiens CGG triplet repeat binding protein 1 (CGGBP1),
            transcript variant 1, mRNA.
ACCESSION   NM_001008390
VERSION     NM_001008390.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4548)
  AUTHORS   Patel D, Patel M, Datta S and Singh U.
  TITLE     CGGBP1-dependent CTCF-binding sites restrict ectopic transcription
  JOURNAL   Cell Cycle 20 (22), 2387-2401 (2021)
   PUBMED   34585631
  REMARK    GeneRIF: CGGBP1-dependent CTCF-binding sites restrict ectopic
            transcription.
REFERENCE   2  (bases 1 to 4548)
  AUTHORS   Patel M, Patel D, Datta S and Singh U.
  TITLE     CGGBP1-regulated cytosine methylation at CTCF-binding motifs resists
            stochasticity
  JOURNAL   BMC Genet 21 (1), 84 (2020)
   PUBMED   32727353
  REMARK    GeneRIF: CGGBP1-regulated cytosine methylation at CTCF-binding
            motifs resists stochasticity. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4548)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 4548)
  AUTHORS   Patel D, Patel M, Datta S and Singh U.
  TITLE     CGGBP1 regulates CTCF occupancy at repeats
  JOURNAL   Epigenetics Chromatin 12 (1), 57 (2019)
   PUBMED   31547883
  REMARK    GeneRIF: CGGBP1 is a regulator of CTCF-DNA-binding pattern with a
            direct effect on a potential chromatin barrier like functioning of
            repeatrich and motif-rich regions. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4548)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (bases 1 to 4548)
  AUTHORS   Muller-Hartmann H, Deissler H, Naumann F, Schmitz B, Schroer J and
            Doerfler W.
  TITLE     The human 20-kDa 5'-(CGG)(n)-3'-binding protein is targeted to the
            nucleus and affects the activity of the FMR1 promoter
  JOURNAL   J Biol Chem 275 (9), 6447-6452 (2000)
   PUBMED   10692448
REFERENCE   7  (bases 1 to 4548)
  AUTHORS   Deissler H, Wilm M, Genc B, Schmitz B, Ternes T, Naumann F, Mann M
            and Doerfler W.
  TITLE     Rapid protein sequencing by tandem mass spectrometry and cDNA
            cloning of p20-CGGBP. A novel protein that binds to the unstable
            triplet repeat 5'-d(CGG)n-3' in the human FMR1 gene
  JOURNAL   J Biol Chem 272 (27), 16761-16768 (1997)
   PUBMED   9201980
REFERENCE   8  (bases 1 to 4548)
  AUTHORS   Deissler H, Behn-Krappa A and Doerfler W.
  TITLE     Purification of nuclear proteins from human HeLa cells that bind
            specifically to the unstable tandem repeat (CGG)n in the human FMR1
            gene
  JOURNAL   J Biol Chem 271 (8), 4327-4334 (1996)
   PUBMED   8626781
REFERENCE   9  (bases 1 to 4548)
  AUTHORS   Meijer H, de Graaff E, Merckx DM, Jongbloed RJ, de Die-Smulders CE,
            Engelen JJ, Fryns JP, Curfs PM and Oostra BA.
  TITLE     A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene
            causes the clinical phenotype of the fragile X syndrome
  JOURNAL   Hum Mol Genet 3 (4), 615-620 (1994)
   PUBMED   8069307
REFERENCE   10  (bases 1 to 4548)
  AUTHORS   Hornstra IK, Nelson DL, Warren ST and Yang TP.
  TITLE     High resolution methylation analysis of the FMR1 gene trinucleotide
            repeat region in fragile X syndrome
  JOURNAL   Hum Mol Genet 2 (10), 1659-1665 (1993)
   PUBMED   8268919
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.756214.1,
            SRR14038197.1444398.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000482016.6/ ENSP00000420374.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC119733.2, BU537042.1, BE501563.1, AJ000258.1, AL117392.1 and
            BC052980.1.
            On Nov 23, 2018 this sequence version replaced NM_001008390.1.
            Summary: This gene encodes a CGG repeat-binding protein that
            primarily localizes to the nucleus. CGG trinucleotide repeats are
            implicated in many disorders as they often act as transcription-
            and translation-regulatory elements, can produce hairpin structures
            which cause DNA replication errors, and form regions prone to
            chromosomal breakage. CGG repeats are also targets for CpG
            methylation. In addition to its ability to bind CGG repeats and
            regulate transcription, this gene is believed to play a role in DNA
            damage repair and telomere protection. In vitro studies indicate
            this protein does not bind to methylated CpG sequences. [provided
            by RefSeq, Jul 2017].
            Transcript Variant: This variant (1) represents the longest
            transcript. All three variants encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4548
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p11.1"
     gene            1..4548
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="CGG triplet repeat binding protein 1"
                     /db_xref="GeneID:8545"
                     /db_xref="HGNC:HGNC:1888"
                     /db_xref="MIM:603363"
     misc_feature    465..467
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="upstream in-frame stop codon"
     CDS             522..1025
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="p20-CGG binding protein; CGG-binding protein 1; 20
                     kDa CGG-binding protein; p20-CGGBP DNA-binding protein"
                     /codon_start=1
                     /product="CGG triplet repeat-binding protein 1"
                     /protein_id="NP_001008391.1"
                     /db_xref="CCDS:CCDS43111.1"
                     /db_xref="GeneID:8545"
                     /db_xref="HGNC:HGNC:1888"
                     /db_xref="MIM:603363"
                     /translation="MERFVVTAPPARNRSKTALYVTPLDRVTEFGGELHEDGGKLFCTS
                     CNVVLNHVRKSAISDHLKSKTHTKRKAEFEEQNVRKKQRPLTASLQCNSTAQTEKVSVI
                     QDFVKMCLEANIPLEKADHPAVRAFLSRHVKNGGSIPKSDQLRRAYLPDGYENENQLLN
                     SQDC"
     misc_feature    687..689
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9UFW8.2); phosphorylation site"
     misc_feature    759..773
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFW8.2);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     misc_feature    1011..1013
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9UFW8.2); phosphorylation site"
     regulatory      4350..4355
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="hexamer: ATTAAA"
     polyA_site      4369
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="major polyA site"
     regulatory      4459..4464
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="hexamer: AATAAA"
     polyA_site      4486
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="major polyA site"
     regulatory      4525..4530
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
                     /note="hexamer: AATATA"
     polyA_site      4548
                     /gene="CGGBP1"
                     /gene_synonym="CGGBP; p20-CGGBP"
ORIGIN
        1 ataggcggtg caggcggacg gggcgcggcg ggggacacgg cggccgccgc ggggctcgat
       61 cgggcaacgg cggcgacggc ggcagcgacg gatcctcctc ctcccttatt cccttgctcc
      121 tctttcttcc ttttcttttc ctttccggcc gggcctcgtc cactttccct aacggcggcc
      181 tcgatcctac gtaaaggcat gacttcctgg caccacaggg aaaatcgggt gcaagcccag
      241 aaactatttc cccaccacca cttgttgaaa aactgatttg aaggcatctc cggggttgaa
      301 caaacggaaa gtgccaggat ttgatgcgtc tctggtttcg ctctggagac cattccctgc
      361 taagtatcaa gacgaaaaaa actggaaact aatccgaatt tctgtggaat gtttaatctt
      421 ctggatccat gactgtctga tacgttggca atttaaagtc cttttgaaag agagttcatg
      481 ttacccagct attctctaaa ccatatttat ttagagtcag aatggagcga tttgtagtaa
      541 cagcaccacc tgctcgaaac cgttctaaga ctgctttgta tgtgactccc ctggatcgag
      601 tcactgagtt tggaggtgag ctgcatgaag atggaggaaa actcttctgc acttcttgca
      661 atgtggttct gaatcatgtt cgcaagtctg ccattagtga ccacctcaag tcaaagactc
      721 ataccaagag gaaggcagaa tttgaagagc agaatgtgag aaagaagcag aggcccctaa
      781 ctgcatctct tcagtgcaac agtactgcgc aaacagagaa agtcagtgtt atccaggact
      841 ttgtgaaaat gtgcctggaa gccaacatcc cacttgagaa ggctgatcac ccagcagtcc
      901 gtgctttcct atctcgccat gtgaagaatg gaggctccat acctaagtca gaccagctac
      961 ggagggcata tcttcctgat ggatatgaga atgagaatca actcctcaac tcacaagatt
     1021 gttgactagg aggttaccac cattgtgatc aagataaatg tggagtatta aagttatgtg
     1081 ttgattgtgt ggttcatttt tgtatttatt tcatttaaaa tcatgtgacg cagaatagtt
     1141 ttgcaatgtg tatatagttg caggcaaaaa aaaaaccacc tcactgcaaa acttattgtt
     1201 aattttagtc accaatggta taaagcaaaa cctaggttta gagtgtgcta ggatacctga
     1261 aacctgatgg ttatctttaa aattaatggt ttttctcctg aaatgtttgt gcatggaaga
     1321 actgccctgc ttttttaccc tgttgccatg tatgattatt ccttgtgaga ttacttaatt
     1381 acttggattg aagactagcc tattgaagct gctgccaggc aacaccactt aacagtaact
     1441 taaaggaatt attttcttta gaggatcctc ttcaaaaagg aagggagata gtggaaaact
     1501 gttcttatat cttcagatcc ctagcagaaa tgactgttta tttcaaacta tgttttactt
     1561 gtatatgatg tagtcacctt aactatcttt caattccata cttcccccgc ccccatttta
     1621 aaggcttatt gttgtatttt gtagcagctt caagtgacca aaagactaaa atctttcaac
     1681 gtcaatgcca aaagccaagg ggaattttgc agtgacagga ttttagtctc ttactatgaa
     1741 tactaatttc gaaccatagc tttcatttta agcatcatct tgaatttcta aacttttttc
     1801 tatgtcttgg tgttaaaaga tttcaagatt ggcattttta cttaaacaga cattttatgg
     1861 ttgagttttc tctttattat agagaattag taattttttt ttggctgaca gatcagataa
     1921 aattactttc tattcattaa tttttctcta caactttatg agtttattta ggtgaatagt
     1981 ctagactaga aacaagttta ctttatctgc tttgcctctg gtggtacaag gtttttaaca
     2041 tggatggtaa acaattgtct agaaattctg gcaggttttt tgtattggag atctggcagt
     2101 atcctgcata actttgggtg aggaaattgt tctcttaaag atcagccatg ttcaggaaat
     2161 gatctctgtt tgaacctcac tatcctgtaa ggttatccaa gtagcttagc ccagctaagt
     2221 tctatcagag acccaaatta tattttttaa aaatttaaca gctggaaact tggactagag
     2281 ctttaataaa aaatcttaaa ttctttgaaa ttcaagttaa aaatacttat atatttctat
     2341 tacaaagcag tgacaaatga tgccctgtgt gacttggagt tatctttgac ttttaccaca
     2401 aatcttcatt tataaaagaa aaagccaaag tgaaaaaaag ttagattgtg tatttttcag
     2461 taacagcttt ccatgtctta agattttttt acagacttaa gtttctaatt caggttgtca
     2521 aactggccat ttgacttcag agatttgttt tcattaaaaa ataagcctgc cgccaaaata
     2581 aatcacttat caaaatgtga actgttttcc tcatgttcag ttatgttaaa gtagtatgat
     2641 aaatgcatgc ctagagtagt gctctcgttg atgaagcaca tgtatgagga gaccagcagc
     2701 aaaacataac catatgtgtt ttgcgtttac ttcctctaga aaagaatttg caggcaacca
     2761 tgtttaattt gaactatcta agatggtaga ttttagaagc taggaataat tgagttttat
     2821 agcactattt tcagaatacg aaaagataca caatcattct gttttttgaa attccatgtg
     2881 attcaaactg ctccctatta tttgggtatt aatttgcact aatagcaaaa tgtaatggca
     2941 gatcagcttt gagagtggtc ctaagcagta aactggatga tgttgcatta gaaaaacatc
     3001 aataattcat atttaagttt tagtagttac tactgatttg ataatcactt aaattttata
     3061 tatcttaatg tattttttca gactcctaat taattcccac attcactgta actaggggca
     3121 tagtccattc tgttaggatt atatcctctc cttagaaatg ttttccatcc tgttgtgggg
     3181 atttggtatt aatgtttctt cattgattat ggaacttttg ttccctgaag ctagttaact
     3241 gtgtctaaag ttaaataaat acagcagaat gattgtttta gcctgctcga actgatacaa
     3301 atccctgaaa ccatgattgg catatgttag ataacaaatg aggatgtcta agaggcatat
     3361 gctgctttgg aggtgtagtg aacgtgtgta cagaagtttt caatcttaac tatatagtgt
     3421 tagtgtgatg ctatactatt ggaaaaatag cagctttttt ctattttata agttgtatgc
     3481 ataaacataa gatttgtaat gtttcattta taaactgcct tcttcaacac atgttaatag
     3541 tgttttctca aagtattgat agtatgtctt ccagaatttc acaatatgct tacagtaaat
     3601 atttcctagc ttgttgaaat gttcaattct ttgttggctt tcttcttgat tctgtggggg
     3661 tgtataacaa gcctgaagga cattgtaatc atttcttaca aggtgaaaat taagaaagat
     3721 tgtgtatgag agcctatata gttgttttat ccattatcat ctttgattaa gactttaaaa
     3781 aaatgctatt tccagttaat gcatttggcc ctattgaatt ttcagggacc agaaaacatt
     3841 aaaaagttct gcatcttata atggtaacca attaagcttg agattgttct gaaagtatca
     3901 attgctttaa aactgttgta agtacagttg gcaagatctc caagctgaaa cttccacgtt
     3961 aaaacttttg cctgtaagaa tttgcacatg aatgttaatg gaaaacacaa aacttaagat
     4021 ggcccaaaac aaaagccaca aacagttcat catttggtgc ttagtctttg taagggctct
     4081 ctgtggtttg acttacccca gctaccgtta aatgaggaca aatcacctta aaacatgttc
     4141 atttgattca taacaaggaa aattgggtct atgatttttt gccaatctta gcctaaaaga
     4201 aattgcttta gcttctggtc agcactgatt aaaatgtgaa tagtgaagtg gctatcctaa
     4261 actggtttat ctccacccac actatcatag atttcttagg taaatacaat tcttatctag
     4321 tggtattcta cttgtattca gaatactgta ttaaaatttt actatttcat ttttgtattc
     4381 tgtgcttatt ttttttgctc acgcatgtat gcttagtata aatgtgtcac ttctaaagtt
     4441 ttgtctctga cttttagaaa taaatttcag aaaaattgtt tcaaaagatt ttgaaagcac
     4501 attttgtttt gtgagtcaat gacaaatata tttcctgatt acaaaaca
//
LOCUS       NM_001008391            3395 bp    mRNA    linear   PRI 01-AUG-2023
DEFINITION  Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.
ACCESSION   NM_001008391
VERSION     NM_001008391.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3395)
  AUTHORS   Khan M, Jabeen N, Khan T, Hussain HMJ, Ali A, Khan R, Jiang L, Li T,
            Tao Q, Zhang X, Yin H, Yu C, Jiang X and Shi Q.
  TITLE     The evolutionarily conserved genes: Tex37, Ccdc73, Prss55 and Nxt2
            are dispensable for fertility in mice
  JOURNAL   Sci Rep 8 (1), 4975 (2018)
   PUBMED   29563520
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3395)
  AUTHORS   Lee SY, Obata Y, Yoshida M, Stockert E, Williamson B, Jungbluth AA,
            Chen YT, Old LJ and Scanlan MJ.
  TITLE     Immunomic analysis of human sarcoma
  JOURNAL   Proc Natl Acad Sci U S A 100 (5), 2651-2656 (2003)
   PUBMED   12601173
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK131470.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000335185.10/ ENSP00000335325.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL035400.13, AL049714.6, AL096793.20 and AL078477.5.
            On Oct 11, 2020 this sequence version replaced NM_001008391.3.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3395
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..3395
                     /gene="CCDC73"
                     /gene_synonym="NY-SAR-79"
                     /note="coiled-coil domain containing 73"
                     /db_xref="GeneID:493860"
                     /db_xref="HGNC:HGNC:23261"
                     /db_xref="MIM:612328"
     CDS             66..3305
                     /gene="CCDC73"
                     /gene_synonym="NY-SAR-79"
                     /note="sarcoma antigen NY-SAR-79"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 73"
                     /protein_id="NP_001008392.2"
                     /db_xref="CCDS:CCDS41630.1"
                     /db_xref="GeneID:493860"
                     /db_xref="HGNC:HGNC:23261"
                     /db_xref="MIM:612328"
                     /translation="MESNFNTESSSTFTLQSSSETLFSIQLLDFKTSLLEALEELRMRR
                     EAEIHYEEQIGKIIVETQELKWQKETLQNQKETLAEQHKEAMAVFKKQLQMKMCALEEE
                     KGKYQLATEIKEKEIEGLKETLKALQVSKYSLQKKVSEMEQKVQLHLLAKEDYHKQLSE
                     IEKYYATITGQFGLVKENHEKLEQNVREAIQSNKRLSALNKKQEAEICSLKKELKKAAS
                     DLIKSKVTCQYKMGEENINLTIKEQKFQELQERLNMELELNEKINEEITHIQEEKQDII
                     ISFQHMQQLLRQQIQANTEMEAELKVLKENNQTLERDNELQREKVKENEEKFLNLQNEH
                     EKALGTWKRHAEELNGEINKIKNELSSLKETHIKLQEHYNKLCNQKTFEEDKKFQNVPE
                     VNNENSEMSTEKSENTIIQKYNTEQEIREENMENFCSDTEYREKEEKKEGSFIEEIIID
                     DLQLFEKSFKNEIDTVVSQDENQSEISLSKTLSLDKEVISQGQTSNVTDNRKSVTTEIK
                     DKICLEKDNGCTEFKSPNNHFVVLDTAIETEKIHLERTRGLDVHHTDVNLEVENNKTSF
                     NSILNETAHNTYHNNNKDVSENEPFKQFRLLPGTREHALEKEITNSDQTKADLDSSLDI
                     KKNPVPCQKYSLRNSSNVMLDDKQCKIKQIQLLTKKSECSILLSKQTSDFLQVCNDTLE
                     KSELTVPCDIVIDHHVSYAAFSANSKLLLKNSDKNVHSMSMLVKPNSSPGGKTMCKNMS
                     DMQNSQFNNCLGYLENTNVNISHLHLNNENSHASQAKDVKTAVHMKTCTETEFSNKKNQ
                     IDENQVTEATKNDLFLFVSINERQHTLLNNTEKTESLNDIVSGKMFSEGQLEESHSFHI
                     EPSGDLVNRSGRSTFDLSTSDKKTEKTPVYMNFSDPGPWSKVNHIESQTASSSTPCISL
                     LLKERPLDPSENKKIISMALCKNIGVDDVGKDIGPDTTSINRVADTLNNWSIHPDPKGE
                     PSEEKNAMAKTFYDSSFPTEHVKTKPLISTPLQSHLQAIKTTKNTSGDDDWQSLITNQL
                     NKSENLLSLENDNQPKKRKAEETLEKNNRLK"
     misc_feature    3219..3302
                     /gene="CCDC73"
                     /gene_synonym="NY-SAR-79"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZRK6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3368..3373
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC73"
                     /gene_synonym="NY-SAR-79"
                     /note="hexamer: AATAAA"
     polyA_site      3391
                     /gene="CCDC73"
                     /gene_synonym="NY-SAR-79"
                     /note="major polyA site"
ORIGIN
        1 aaaaggtgaa ccggaagggc caacaggagc tagaggcgcg cttcgctgag gaaataaata
       61 ttaatatgga aagcaacttc aatactgagt catcatctac ttttactctt caaagttctt
      121 cagagacatt gttttctatt cagctattag atttcaaaac aagtttactg gaggcattag
      181 aagaattgcg tatgagaagg gaagcagaaa ttcattatga agagcagatt ggtaaaatta
      241 ttgtggagac acaggaactt aaatggcaaa aggaaactct tcagaatcaa aaggaaacat
      301 tggcagagca acacaaggaa gcaatggcag tttttaaaaa gcagttgcag atgaagatgt
      361 gtgccctgga agaagaaaag ggaaaatatc aacttgctac agaaataaag gaaaaagaaa
      421 tagaaggatt gaaggaaaca ttaaaagcac tacaggtttc taaatactct ttacagaaga
      481 aagtgagtga aatggaacaa aaggtccagt tacatcttct ggctaaagaa gactatcata
      541 agcaactgag tgaaattgag aaatattatg ccacaataac aggtcaattt ggattggtaa
      601 aagagaatca tgaaaagtta gaacaaaatg tacgggaagc aatacaatca aacaaaagac
      661 tttcagcttt aaataaaaaa caagaagctg aaatatgcag tttaaagaag gaactaaaaa
      721 aagcagcctc agacttgata aagtccaaag tcacatgtca atataagatg ggagaagaaa
      781 acatcaatct aacaattaaa gaacaaaaat ttcaagaact tcaagaaaga ctcaacatgg
      841 aattggaatt aaatgagaag attaatgaag agattaccca tattcaagaa gaaaaacagg
      901 atatcatcat ttctttccaa catatgcagc agttacttcg gcaacaaatt caagctaata
      961 ctgaaatgga ggcagaattg aaggtgctaa aagaaaataa tcagaccctt gaaagagata
     1021 atgagctgca aagggagaag gtaaaagaaa atgaagaaaa gtttcttaat cttcaaaatg
     1081 agcatgaaaa agcactagga acttggaaaa gacatgctga agaacttaat ggagaaatta
     1141 ataagattaa aaatgaatta tcatccctta aagaaactca tattaagtta caagaacatt
     1201 ataacaaatt atgcaatcaa aaaacatttg aggaagacaa aaagtttcag aatgttccag
     1261 aagtaaataa tgaaaacagt gaaatgtcaa ctgaaaaatc agaaaacacc attatacaga
     1321 aatataatac tgagcaagaa ataagggaag aaaatatgga gaatttttgt tcagatactg
     1381 aatacagaga aaaagaagaa aaaaaagaag gctcatttat agaggaaata attatagatg
     1441 atttacagct ttttgaaaaa agcttcaaga atgaaattga tactgttgtt tctcaggatg
     1501 aaaatcaaag tgaaatctcc ttaagcaaaa ccctctcctt agataaagaa gtaattagtc
     1561 aaggacaaac ctcgaatgtt acggacaaca gaaaatcagt tactacagaa ataaaagaca
     1621 agatatgctt ggaaaaagac aatggatgta cagaatttaa atcaccaaat aatcattttg
     1681 tagtgttaga tacagcaata gaaacagaaa aaatacatct agaaagaacc agaggattag
     1741 atgttcacca tacagatgta aatctggagg ttgaaaataa caaaacatca tttaacagta
     1801 ttttaaatga gacagcacac aatacatatc acaataataa taaagatgtt tctgaaaatg
     1861 agccattcaa acaattcaga ttgcttccag ggactcgaga acatgctcta gagaaggaaa
     1921 ttacaaatag tgaccaaacc aaagcagatt tggactcgtc tctagatata aaaaaaaatc
     1981 ctgttccatg tcagaaatat agtttacgga attcaagtaa tgttatgtta gatgataaac
     2041 aatgtaaaat aaaacaaata caactgttaa ctaaaaaaag tgagtgcagc atattacttt
     2101 ctaaacaaac ttcagatttt ctgcaagtct gtaatgatac tttagagaaa tctgaactaa
     2161 ctgttccctg tgatatagta atcgaccacc atgtttcata tgctgctttt agtgctaatt
     2221 caaaactact tctgaagaac tcagataaaa atgtccatag tatgtctatg ttggtgaaac
     2281 ctaactcaag ccctggggga aaaactatgt gtaaaaatat gagtgatatg caaaacagtc
     2341 aatttaataa ctgtttggga tacttagaaa acactaatgt gaacatttcc catcttcatc
     2401 ttaacaatga gaatagtcat gcttcacaag ccaaagatgt gaaaactgct gttcacatga
     2461 aaacttgcac agaaacagag ttttccaata aaaagaatca gattgatgag aatcaggtaa
     2521 ctgaagccac aaaaaatgac ctcttccttt ttgtgagcat taatgaaaga cagcatacat
     2581 tgttaaataa tacagagaaa acagaatcat taaatgacat tgtttcagga aaaatgttca
     2641 gtgaaggaca gctggaggaa tcacattcat ttcacataga gccatctgga gatttagtaa
     2701 acagaagcgg aaggtcaacc tttgatcttt caacttcaga taaaaaaact gagaaaactc
     2761 cagtatacat gaatttttca gaccccggtc cttggtcaaa agtaaatcac attgaaagtc
     2821 aaacagcgag cagttcgacc ccttgcattt ctttgttgct gaaggagaga ccactagatc
     2881 catcagaaaa caaaaagatc atttcaatgg ctctttgtaa aaatattggt gtggatgatg
     2941 ttggaaagga tattggacca gatactacca gcattaacag agttgctgac actttgaata
     3001 actggagtat ccatccagat cccaagggag aacccagtga agagaagaat gcaatggcaa
     3061 agacttttta tgattcctct tttcccacag aacatgtgaa aacaaagcct ctgatatcaa
     3121 ctccactaca aagccatttg caggcaatca agacgactaa aaatacttct ggtgatgatg
     3181 actggcagag cctcattacg aatcaactaa ataaaagtga aaatttacta agtttagaaa
     3241 atgacaacca gccaaagaaa agaaaagcag aagagacgtt ggaaaaaaac aacagattaa
     3301 aataatgtag ataagtgctt tcagtagtga aattatgtaa ctgaaattct ggtatagttt
     3361 ttactagaat aaaatgactg ttgtatttaa agctc
//
LOCUS       NM_001008392            4753 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens CTD small phosphatase like (CTDSPL), transcript variant
            1, mRNA.
ACCESSION   NM_001008392
VERSION     NM_001008392.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4753)
  AUTHORS   Han J and Wang Y.
  TITLE     Hsa-miR-503-5p regulates CTDSPL to accelerate cisplatin resistance
            and angiogenesis of lung adenocarcinoma cells
  JOURNAL   Chem Biol Drug Des 102 (4), 749-762 (2023)
   PUBMED   37341065
  REMARK    GeneRIF: Hsa-miR-503-5p regulates CTDSPL to accelerate cisplatin
            resistance and angiogenesis of lung adenocarcinoma cells.
REFERENCE   2  (bases 1 to 4753)
  AUTHORS   Krasnov GS, Puzanov GA, Afanasyeva MA, Dashinimaev EB, Vishnyakova
            KS, Beniaminov AD, Adzhubei AA, Kondratieva TT, Yegorov YE and
            Senchenko VN.
  TITLE     Tumor suppressor properties of the small C-terminal domain
            phosphatases in non-small cell lung cancer
  JOURNAL   Biosci Rep 39 (12) (2019)
   PUBMED   31774910
  REMARK    GeneRIF: Tumor suppressor properties of the small C-terminal domain
            phosphatases in non-small cell lung cancer.
REFERENCE   3  (bases 1 to 4753)
  AUTHORS   Sarkar S, Alam N, Mandal SS, Chatterjee K, Ghosh S, Roychoudhury S
            and Panda CK.
  TITLE     Differential transmission of the molecular signature of RBSP3, LIMD1
            and CDC25A in basal/ parabasal versus spinous of normal epithelium
            during head and neck tumorigenesis: A mechanistic study
  JOURNAL   PLoS One 13 (4), e0195937 (2018)
   PUBMED   29672635
  REMARK    GeneRIF: our data also suggests the importance ofLIMD1 and CDC25A in
            conjunction with HPV for use as diagnostic and prognostic markers of
            HNSCC, whereas RBSP3 as a prognostic marker only. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 4753)
  AUTHORS   Zhang L, He X, Li F, Pan H, Huang X, Wen X, Zhang H, Li B, Ge S, Xu
            X, Jia R and Fan X.
  TITLE     The miR-181 family promotes cell cycle by targeting CTDSPL, a
            phosphatase-like tumor suppressor in uveal melanoma
  JOURNAL   J Exp Clin Cancer Res 37 (1), 15 (2018)
   PUBMED   29382357
  REMARK    GeneRIF: we have presented herein the novel finding that miR-181b
            contributes to cell cycle progression through depressing the
            expression of CTDSPL, which in turn activates the downstream
            effector E2F1 and promotes S-phase entry. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 4753)
  AUTHORS   Chakraborty C, Roychowdhury A, Samadder S, Roy A, Mandal RK, Basu P,
            Roychoudhury S and Panda CK.
  TITLE     Association of P16-RBSP3 inactivation with phosphorylated RB1
            overexpression in basal-parabasal layers of normal cervix unchanged
            during CACX development
  JOURNAL   Biochem J 473 (19), 3221-3236 (2016)
   PUBMED   27458253
  REMARK    GeneRIF: data suggest that overexpression of p-RB1 in
            basal-parabasal layers of normal cervical epithelium was due to
            methylation/low functional-linked non-synonimous SNPs of P16 and
            RBSP3. This pattern was maintained during cervical carcinogenesis by
            additional deletion/mutation
REFERENCE   6  (bases 1 to 4753)
  AUTHORS   Knockaert M, Sapkota G, Alarcon C, Massague J and Brivanlou AH.
  TITLE     Unique players in the BMP pathway: small C-terminal domain
            phosphatases dephosphorylate Smad1 to attenuate BMP signaling
  JOURNAL   Proc Natl Acad Sci U S A 103 (32), 11940-11945 (2006)
   PUBMED   16882717
REFERENCE   7  (bases 1 to 4753)
  AUTHORS   Kashuba VI, Li J, Wang F, Senchenko VN, Protopopov A, Malyukova A,
            Kutsenko AS, Kadyrova E, Zabarovska VI, Muravenko OV, Zelenin AV,
            Kisselev LL, Kuzmin I, Minna JD, Winberg G, Ernberg I, Braga E,
            Lerman MI, Klein G and Zabarovsky ER.
  TITLE     RBSP3 (HYA22) is a tumor suppressor gene implicated in major
            epithelial malignancies
  JOURNAL   Proc Natl Acad Sci U S A 101 (14), 4906-4911 (2004)
   PUBMED   15051889
  REMARK    GeneRIF: analysis of RBSP3/HYA22located in the AP20 region, and
            evidence for tumor suppressor function
REFERENCE   8  (bases 1 to 4753)
  AUTHORS   Yeo M, Lin PS, Dahmus ME and Gill GN.
  TITLE     A novel RNA polymerase II C-terminal domain phosphatase that
            preferentially dephosphorylates serine 5
  JOURNAL   J Biol Chem 278 (28), 26078-26085 (2003)
   PUBMED   12721286
REFERENCE   9  (bases 1 to 4753)
  AUTHORS   Protopopov A, Kashuba V, Zabarovska VI, Muravenko OV, Lerman MI,
            Klein G and Zabarovsky ER.
  TITLE     An integrated physical and gene map of the 3.5-Mb chromosome 3p21.3
            (AP20) region implicated in major human epithelial malignancies
  JOURNAL   Cancer Res 63 (2), 404-412 (2003)
   PUBMED   12543795
REFERENCE   10  (bases 1 to 4753)
  AUTHORS   Ishikawa S, Kai M, Tamari M, Takei Y, Takeuchi K, Bandou H, Yamane
            Y, Ogawa M and Nakamura Y.
  TITLE     Sequence analysis of a 685-kb genomic region on chromosome
            3p22-p21.3 that is homozygously deleted in a lung carcinoma cell
            line
  JOURNAL   DNA Res 4 (1), 35-43 (1997)
   PUBMED   9179494
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AJ575645.1, BX361022.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000273179.10/ ENSP00000273179.5
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093415.2, AI143812.1, AJ575645.1 and AC105752.2.
            On Nov 23, 2018 this sequence version replaced NM_001008392.1.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4753
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.2"
     gene            1..4753
                     /gene="CTDSPL"
                     /gene_synonym="C3orf8; HYA22; PSR1; RBSP3; SCP3"
                     /note="CTD small phosphatase like"
                     /db_xref="GeneID:10217"
                     /db_xref="HGNC:HGNC:16890"
                     /db_xref="MIM:608592"
     CDS             321..1151
                     /gene="CTDSPL"
                     /gene_synonym="C3orf8; HYA22; PSR1; RBSP3; SCP3"
                     /EC_number="3.1.3.16"
                     /note="isoform 1 is encoded by transcript variant 1; RB
                     protein serine phosphatase from chromosome 3; CTD small
                     phosphatase-like protein; small CTD phosphatase 3;
                     CTDSP-like; NIF-like protein; NLI-interacting factor 1;
                     small C-terminal domain phosphatase 3; nuclear LIM
                     interactor-interacting factor 1; carboxy-terminal domain
                     RNA polymerase II polypeptide A small phosphatase 3; CTD
                     (carboxy-terminal domain, RNA polymerase II, polypeptide A)
                     small phosphatase-like"
                     /codon_start=1
                     /product="CTD small phosphatase-like protein isoform 1"
                     /protein_id="NP_001008393.1"
                     /db_xref="CCDS:CCDS33734.1"
                     /db_xref="GeneID:10217"
                     /db_xref="HGNC:HGNC:16890"
                     /db_xref="MIM:608592"
                     /translation="MDGPAIITQVTNPKEDEGRLPGAGEKASQCNVSLKKQRSRSILSS
                     FFCCFRDYNVEAPPPSSPSVLPPLVEENGGLQKGDQRQVIPIPSPPAKYLLPEVTVLDY
                     GKKCVVIDLDETLVHSSFKPISNADFIVPVEIDGTIHQVYVLKRPHVDEFLQRMGQLFE
                     CVLFTASLAKYADPVADLLDRWGVFRARLFRESCVFHRGNYVKDLSRLGRELSKVIIVD
                     NSPASYIFHPENAVPVQSWFDDMTDTELLDLIPFFEGLSREDDVYSMLHRLCNR"
     misc_feature    321..395
                     /gene="CTDSPL"
                     /gene_synonym="C3orf8; HYA22; PSR1; RBSP3; SCP3"
                     /note="propagated from UniProtKB/Swiss-Prot (O15194.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    822..824
                     /gene="CTDSPL"
                     /gene_synonym="C3orf8; HYA22; PSR1; RBSP3; SCP3"
                     /note="Transition state stabilizer. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (O15194.2); other
                     site"
     misc_feature    936..938
                     /gene="CTDSPL"
                     /gene_synonym="C3orf8; HYA22; PSR1; RBSP3; SCP3"
                     /note="Transition state stabilizer. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (O15194.2); other
                     site"
     regulatory      4734..4739
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTDSPL"
                     /gene_synonym="C3orf8; HYA22; PSR1; RBSP3; SCP3"
                     /note="hexamer: AATAAA"
     polyA_site      4753
                     /gene="CTDSPL"
                     /gene_synonym="C3orf8; HYA22; PSR1; RBSP3; SCP3"
                     /note="major polyA site"
ORIGIN
        1 ccttccccct cgcccgcccg ctcccgcttc cagcggcgcc gggcctcccg ctccgcctcc
       61 ccgtgcgcgg ctctcccggg cgcggctccg gggttcatgg tgacgaggcg gcggccgctc
      121 gagcccagcg gcggcggcgg cgggagctgg ggcgcgggcc cgggccgcct ctcccagagc
      181 gcggggccgg gcggcgggcg cgcccaggca gcggctgcga gcgccccccc gcgccgcgcc
      241 cccgcgcccc ccgcgccgcg cccccgcgcg cttggcttgc ggggggccgg gcctgcgggc
      301 ggccgccgcg ccgcgcaccc atggacggcc cggccatcat cacccaggtg accaacccca
      361 aggaggacga gggccggttg ccgggcgcgg gcgagaaagc ctcccagtgc aacgtcagct
      421 taaagaagca gaggagccgc agcatcctta gctccttctt ctgctgcttc cgtgattaca
      481 atgtggaggc ccctccaccc agcagcccca gtgtgcttcc gccactggtg gaggagaatg
      541 gtgggcttca gaagggtgac cagaggcagg tcattcccat accaagtcca ccagctaagt
      601 accttcttcc agaggtgacg gtgcttgact atggaaagaa atgtgtggtc attgatttag
      661 atgaaacatt ggtgcacagt tcgtttaagc ctattagtaa tgctgatttt attgttccgg
      721 ttgaaatcga tggaactata catcaggtgt atgtgctgaa gcggccacat gtggacgagt
      781 tcctccagag gatggggcag ctttttgaat gtgtgctctt tactgccagc ttggccaagt
      841 atgcagaccc tgtggctgac ctcctagacc gctggggtgt gttccgggcc cggctcttca
      901 gagaatcatg tgtttttcat cgtgggaact acgtgaagga cctgagtcgc cttgggcggg
      961 agctgagcaa agtgatcatt gttgacaatt cccctgcctc atacatcttc catcctgaga
     1021 atgcagtgcc tgtgcagtcc tggttcgatg acatgacgga cacggagctg ctggacctca
     1081 tccccttctt tgagggcctg agccgggagg acgacgtgta cagcatgctg cacagactct
     1141 gcaataggta gccctggcct ctgcctgcct cccgcctgtg cactctggaa cctctggcct
     1201 caggggacct gcctgtcctc agctccctgg gagctgaaag tgaggatact ccgtgctcca
     1261 ggccacaggg tgaatgtggc catgcctacc tgttttgttt ttttaagaac agaaacaact
     1321 attttaaaag aactctttta agaaatttca taaagggaca tgcattttac tgggtttgct
     1381 tttcttaaaa cataccaaaa aagaaaaaaa tagaaaaaaa aaaaaaaaaa gcttgatctc
     1441 tatcagactt cctttcaact gtcctcccct ccaagcagac cacctgtccc cttctatccc
     1501 agctcagagc agctgaccca actcagaatc tctttcctac aggatgaagt gccttttgaa
     1561 tgttatttta agccgagagt taatttttct acacaacata tttccagaca tcttttagtc
     1621 ttttattgtc ttagatacta taagaagatg aacatgacaa ttttctagaa cctggtagcg
     1681 tgtgtgtgtg tggcgggggg tgctgaggga ggggagtgag tcacaggagc ctgtccccca
     1741 acaggtgtga ctgctctgac aacctgtggc atgctgcagg gtcaggctcc tgataggagg
     1801 atttcatgac tatgtcattg tctccactca tttttgaccc agtttggaat gtatctgcaa
     1861 ttgtgtggct caacacttta ggaaacaata gattatttta tattattatt tctgatggtg
     1921 acaagtttgt cttgaggtca cattttctcc ttgaaaagtg acatcctgtc acttctgctc
     1981 tcacactact gccatacatt tgtgtttttt gttgttattg tttgggtaga gcagttacaa
     2041 gaaaccctaa aacccttgga tataaaagaa atctgtttat tgatttttaa atctttcctt
     2101 tccaaaagct ggatacacat ggagctgttt gggaattttc cttgctgcta ccgcgctgcc
     2161 accaaatgga attgaccagc ggctgttaca ctgttctttg ccactgtgcc tatgctcaga
     2221 atatgctcac tgctaagcta caaactcgga cagggtcaga aacagaggtg tcccatccca
     2281 ttgcagcctc caccacctgt aaccccttcc tggcattggc cactgaaggg tacaaaggca
     2341 aaaggaccac agcaccactt aggtgtagca tggattttaa actgcagtca gtatcagatc
     2401 ctgtttgata aataagctga ctgttctctc ttgagaacct gtggcctcaa ccagccacca
     2461 agctgatgtg gcccaagtcc atctcttggt cttctccttt gaagcacagc ctatttctga
     2521 gccaagggtt ggggaagcct gtctagatgt gggactcatt gccccaaacc agggagagga
     2581 agagctccca cagggagagc ccaggctctc tttgcagcct ttcccagttt ggtgtttaag
     2641 cagtgccatg ttccttgttt gacaacaaga cagtctgtaa agtattgctc ttaaaaacaa
     2701 ttaaaaagaa ccctttcata ttggcaccat tgccttagtc ctctgtgggt tggtcttcag
     2761 ccagcattct ggtgggagtg actggcatta acaagactgg aaatcggggg tcaaagtaaa
     2821 atatctttgt tttgctttca ttcacaaagt aatgaagcca gctgccaatt acatcctccc
     2881 aacagcactt tggtctgtgg actgctgtgt gaatattcag aagggaagta agtattcagg
     2941 gggtaaacag gtctcccagc attctgagtg ttccaaacca gtaatccaca tgccaattca
     3001 aatagaacag ccccttgcta gatattacca cagataatga cagttacatg gtagaactgc
     3061 ccatgccaca aatatttatt tggaaaagta gtcattaaat gaacccactg ccttaaatgt
     3121 cttgaatgtt gcagtcaagt gtctgtcatg tgttgatatc cacacagaat taggccctaa
     3181 tgagagcctt agaccctcaa ccatgccccc ttcgttggca tcacagggcc ttatttggaa
     3241 gagcgggcaa agaggatgga aatcataaaa tatttcatgg gaatcgaacc tagggatagt
     3301 gctccacttc tgacgatgga gtgaagacac ttggcagact tgagccagac acttcaccta
     3361 gtagttcctg aaactgtgag caccactgca ctaagccagt gcggagctgt tagggacggg
     3421 cccagctcct gcaccacgga cacagaatgt ctggagaggg ccagcaggcc ctctgagggt
     3481 tctggaatct gtgcacctta tttgaccaca ctccaaaatt ctgtttttat tttaaccctt
     3541 gaatctgctt tatgtacata atcaaaatat ctatatctat atctatatct atatctatat
     3601 atttttaatc atctacatgt aaatgaagca atagaattct aacataaggc caagaaatga
     3661 gacgaatgtt tggggtttat gttttttaag gtaaatacgg gtattgtttt taattattac
     3721 catgtattaa attgtgggct ttgaaaccta atgaaacctg ttagccactt ctctgtgcca
     3781 tatacttccc atgttaccaa aataccccca actctttagc caaaagagaa ccctgacctc
     3841 ctgagtttcc atgctccttt ctgtaccagg tttaaatgta gtcttctgga gaagtatttt
     3901 tgacattgag ctctgggaca ggacaccttg ggtttgtgga ctgcagccca ctatgatgtt
     3961 attacttctc tggccaggcc tccagtggaa gtgcacaggc actcccaatg ttgttaatgc
     4021 tctgtcttcc atttgttctg gaatcctacg tgttggtctg tggttccatg cattagctgt
     4081 ttgtaaataa tgcatttgca tactgaaaaa ggaatgccac ctgccacagt tgatggtgag
     4141 gaagctcctt tgacgtggtg caattttgat gagatgtctc tggggacacg aggatgccct
     4201 aatgatgctg acttgtcatg gttgcagcat ttgaactttt ggtgttaaaa aaaaaaacct
     4261 gtaagtctgt aacctggcaa cattttacaa ccctgtattt ttaaagatgg ctttctaata
     4321 aaaaatccag aaccacacag ccctatggtc aaacaatcct acgtttgtgc ctctgctttt
     4381 aaaggtgctg tgctggacag ttggcatgcc agggttcgag aagagtgaat ggcttgacgt
     4441 acttgcagtt aactgtgcaa aattggctgg ctgcctctgt tcctactgta ctgtaacttt
     4501 gatcatgtct gttcctgttc cattctccca ggagcttctc tgcagactga cacaccctcc
     4561 cccaccccgg gtagtggaga tgctggtgtc tgggtagtca tggatttctg ctggacattt
     4621 gaatgtgata aacaatccag cattacttag gaaatgctac atgcggaatg tgcacgtttc
     4681 caggggcgag tattgtcaat caaaaggttt gcaatgattt ccttcctgcc aaaaataaac
     4741 atgtgaaact gca
//
LOCUS       NM_001008393            3366 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens chromosome 4 open reading frame 46 (C4orf46),
            transcript variant 1, mRNA.
ACCESSION   NM_001008393
VERSION     NM_001008393.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3366)
  AUTHORS   Shah B, Khan R, Shah W, Aftab A, Khan M, Dil S and Shi Q.
  TITLE     Inactivation of testis-specific gene C4orf46 is dispensable for
            spermatogenesis and fertility in mouse
  JOURNAL   Mamm Genome 32 (5), 364-370 (2021)
   PUBMED   34076717
REFERENCE   2  (bases 1 to 3366)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3366)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 3366)
  AUTHORS   Yu Z, Ni L, Chen D, Su Z, Yu W, Zhang Q, Wang Y, Li C, Gui Y and Lai
            Y.
  TITLE     Expression and clinical significance of RCDG1 in renal cell
            carcinoma: a novel renal cancer-associated gene
  JOURNAL   Mol Med Rep 10 (3), 1583-1589 (2014)
   PUBMED   25059753
  REMARK    GeneRIF: A reduction in RCDG1 expression may be associated with the
            oncogenesis of renal cell carcinoma and the differentiation of clear
            cell renal cell carcinoma.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DB137547.1, AK074948.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379205.5/ ENSP00000368503.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC094775.1, AC107219.5 and BU688970.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001008393.3.
            Summary: This gene encodes a small, conserved protein of unknown
            function that is expressed in a variety of tissues. There are
            pseudogenes for this gene on chromosomes 6, 8, 16, and X.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Feb 2013].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3366
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.1"
     gene            1..3366
                     /gene="C4orf46"
                     /gene_synonym="RCDG1"
                     /note="chromosome 4 open reading frame 46"
                     /db_xref="GeneID:201725"
                     /db_xref="HGNC:HGNC:27320"
                     /db_xref="MIM:616210"
     CDS             87..428
                     /gene="C4orf46"
                     /gene_synonym="RCDG1"
                     /codon_start=1
                     /product="renal cancer differentiation gene 1 protein"
                     /protein_id="NP_001008394.1"
                     /db_xref="CCDS:CCDS34088.1"
                     /db_xref="GeneID:201725"
                     /db_xref="HGNC:HGNC:27320"
                     /db_xref="MIM:616210"
                     /translation="MADPEELQVSSPPPPPPSSPSSSDASAASSPGGPVSLGWPVPSRS
                     SGPTVDQLEEVELQIGDAAFSLTKLLEATSAVSAQVEELAFKCTENARFLKTWRDLLKE
                     GYDSLKPDD"
     misc_feature    87..236
                     /gene="C4orf46"
                     /gene_synonym="RCDG1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q504U0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3338..3343
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C4orf46"
                     /gene_synonym="RCDG1"
                     /note="hexamer: AATAAA"
     polyA_site      3366
                     /gene="C4orf46"
                     /gene_synonym="RCDG1"
                     /note="major polyA site"
ORIGIN
        1 ctttcggctt tgggcgcgag tggttaaaag acagttggtg tcggttcggc ttctcgggtc
       61 ggattccgcg gtcccaaccc ttccccatgg ccgaccctga ggagttgcag gtttcttcgc
      121 cgcccccgcc gcctccctct tctccctcct cttcagacgc ctctgcagca tcttccccgg
      181 gcggcccagt gagtttgggc tggccagttc cgagcaggag cagcggccca acggtggacc
      241 agctggagga agtggagctg cagatcggag acgcagcctt ttcattaacc aaacttcttg
      301 aagccacatc tgcagtatca gctcaagtgg aagaacttgc cttcaaatgt acagaaaatg
      361 cacgtttcct taaaacgtgg cgggacctct tgaaagaagg ctatgattct ttgaaacctg
      421 atgactgatt tggcatactt cgttgtttaa taatgactgc aataattcat acttcttatg
      481 tcatattttg tacatgtacc acacatatag gatgacctct gtccagcagt tctgtatata
      541 ctcagaatga aatttttctt ggttttcttg gtttttgtga aagcagaata ccgatgctat
      601 ttttgttgcg gaccagtact tgtttgtcct taaatacttt atgcctctga actttcatag
      661 aatcctttat gaaagttaac ttcatcaata gacggttaat attaatagag ccacagtgct
      721 accagtagca aactaggtag accattattt gttttgcaac aagatgctaa gcatggcaga
      781 ctttgaagtt gcgtttcatc ttaaggacca agggaggtaa ctttaaggtt gccagtggtg
      841 gatccagctc cgttaggcta agttgtctac agctaatgat tgtgtcttta ttctatatcc
      901 ccagcaccta aaacagggtc acacaacatt cactaaatgt ttgttgaata aaagagttaa
      961 caaacataat tgaaagcttt ttttcttcct atatttagca tgaagactgt cattgtttct
     1021 ctaggaaatg tatgaatctg aacttttttg acttgaagaa aaacattctt tttttacaga
     1081 gatttggact ttgatgatag gttttaaaaa tatatgataa atattttttg tacttgtttg
     1141 attttttttt taaagacttt acttcagaaa gggaaagact gtttagaaag aatgcatatt
     1201 ttttccctat ttatttctgt ggttactgct tttgcagttt aacagtgttt gtatttgata
     1261 tttgtatatg tttgattgct atctttaaag tgccttatca gatttatggc tctgtgctat
     1321 tactttttga gctttgcaag ttgtgtacat aataattcta aagaagttac tttgtttgca
     1381 atgcatcaaa tttaaatgat gtgatttttt ttgtattatt tgatcttagt gacagtgttc
     1441 tattttgcat cctgtatctt atgttgcttt tggtgttttg tgttgtgtgt caacgattaa
     1501 gccaactaat tctctaccat atataacttc tggacatttt tgatacaaca tcttaattct
     1561 ttgtagatat ggagataggt acagaactat attctaatgc cccacaatgg ggctatgaga
     1621 ggggacagat ggatgggcaa agaatagttt tgtttaacat attaggtcat agttcttgat
     1681 tagttttttt agttaaagat aaacacatag ggtgtgattt ctataccaaa gatatgctta
     1741 tttcagtatt agaaaaatat tcttcttaca tctcctgaaa attgcaattt ttaaaatgtg
     1801 taaaaataaa ttattattaa aagcacattt tatttccatt tgtttggatt cattacctta
     1861 aaactttatt gacatatttc aaagatatag gaaaggtaaa tgatttcaag aaaatccgtg
     1921 tatttctacc atgcagatgt aataaatgtt agcatttggc tatattttct tcagacacac
     1981 atatgcatgt aattgcaaat gttagataca tttgaagttt gctttgttac ctgtttgatc
     2041 ctgtcccgtt cctccctccc cagagtcccc agaggtaacc actagagggg gcataatata
     2101 gcatgtgttt ttatattttt aatacaaata tattttttaa aagcgctaca aaatattgtt
     2161 ttatatatgt ggtagccagc ttccagatgg ccccagtgat ccctggcctc ctggtgttca
     2221 tgccccagta tagccttctc ctgcatttta cagtgctgac ttttgtaact accaggatat
     2281 tgagcaaatg cagtgtgtga tttctgaggc catatctttt actctttttt ttttttttaa
     2341 gagacaagat ctcactctat tgctcaggct ggagtgtggt ggcaggatca tagctcactg
     2401 taaccttaaa cttggactca aacaatcctc ccatctcgcc tcctcctata aagcactggg
     2461 attacaggca tttttgctca tttttctatg ttgttttttt tacttgtcag tttttagata
     2521 ttacatattt tgaatactaa tgatctgtta tgtatgttcc aattatcttt tttagtctgg
     2581 tttgtcttca tattttggtt atgaaatctt gaatttttaa aaacgtaatt ttaccaatct
     2641 ttcataatga tttgcttttt ctggtttttg tataggaaat gtcataaaaa tagtcctatt
     2701 cagccttcca aaagttacaa aatttttgtt tttaacattt agatgtttag tccaactgaa
     2761 atttgttttc ttttatggca tgattttgga atcttgtttt aattattttt acatatttat
     2821 agctgttcct ccaagtatca atttttcaag tgcaacatct gtcatgcagt tactatgtaa
     2881 gggccagatt ctgacctttc tgttcttttt atctgaagga aatttgaaca tgccaccccc
     2941 aaatatgccg atttggcata ctgattattt cgagctaaag gtgcttgact aacagtagtt
     3001 gcagaaatgg ctattttaac tgtcctttcc tacctgtagc aagccataca aacttctttg
     3061 ataaagatgc tttcctgata ccaagatgag aagatggctc taatcagctg agacagcacc
     3121 agaggaatct acaaacaaga aactattagt ttcttaacat atatttacct tccacagttt
     3181 ctgcctctgg aagcctaaaa ctgctttcct tcgtcttgtc acacttctct gaaatgtatt
     3241 ctttgtggaa gatgctatat agtccagagt tgtaagccac tacttgtgtt taccttttca
     3301 ttgagttttc tcctgtgtga tgtacgttgc atatattaat aaaattactt gtttttctct
     3361 tgttaa
//
LOCUS       NM_001008394            1467 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens EP300 interacting inhibitor of differentiation 3
            (EID3), mRNA.
ACCESSION   NM_001008394
VERSION     NM_001008394.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1467)
  AUTHORS   Wang Y, Luo S, Wang Y, Yang S, Huang Z, Zhu X, Cai S, Guo Q, Zhong W
            and Liu S.
  TITLE     EID3 Promotes Cancer Stem Cell-Like Phenotypes in Osteosarcoma
            through the Activation of PI3K-AKT Signaling Pathway
  JOURNAL   Oxid Med Cell Longev 2022, 5941562 (2022)
   PUBMED   36071872
  REMARK    GeneRIF: EID3 Promotes Cancer Stem Cell-Like Phenotypes in
            Osteosarcoma through the Activation of PI3K-AKT Signaling Pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1467)
  AUTHORS   Adamus M, Lelkes E, Potesil D, Ganji SR, Kolesar P, Zabrady K,
            Zdrahal Z and Palecek JJ.
  TITLE     Molecular Insights into the Architecture of the Human SMC5/6 Complex
  JOURNAL   J Mol Biol 432 (13), 3820-3837 (2020)
   PUBMED   32389690
REFERENCE   3  (bases 1 to 1467)
  AUTHORS   Wang Y, Wang Y, Liu S, Liu Y, Xu H, Liang J, Zhu J, Zhang G, Su W,
            Dong W and Guo Q.
  TITLE     Upregulation of EID3 sensitizes breast cancer cells to ionizing
            radiation-induced cellular senescence
  JOURNAL   Biomed Pharmacother 107, 606-614 (2018)
   PUBMED   30114644
  REMARK    GeneRIF: Knockdown of EID3 by specific shRNA attenuated BMS-345541
            -induced radiosensitization in MCF-7 cells.
REFERENCE   4  (bases 1 to 1467)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 1467)
  AUTHORS   Luo L, Chen WJ, Yin JQ and Xu RX.
  TITLE     EID3 directly associates with DNMT3A during transdifferentiation of
            human umbilical cord mesenchymal stem cells to NPC-like cells
  JOURNAL   Sci Rep 7, 40463 (2017)
   PUBMED   28074931
  REMARK    GeneRIF: These findings indicated a novel mechanism by which EID3, a
            p300 acetyltransferase inhibitor, could directly affect DNMT3A, this
            enzyme possesses dual methylation and demethylation abilities.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1467)
  AUTHORS   Taylor EM, Copsey AC, Hudson JJ, Vidot S and Lehmann AR.
  TITLE     Identification of the proteins, including MAGEG1, that make up the
            human SMC5-6 protein complex
  JOURNAL   Mol Cell Biol 28 (4), 1197-1206 (2008)
   PUBMED   18086888
REFERENCE   7  (bases 1 to 1467)
  AUTHORS   Potts PR and Yu H.
  TITLE     The SMC5/6 complex maintains telomere length in ALT cancer cells
            through SUMOylation of telomere-binding proteins
  JOURNAL   Nat Struct Mol Biol 14 (7), 581-590 (2007)
   PUBMED   17589526
REFERENCE   8  (bases 1 to 1467)
  AUTHORS   Potts PR, Porteus MH and Yu H.
  TITLE     Human SMC5/6 complex promotes sister chromatid homologous
            recombination by recruiting the SMC1/3 cohesin complex to
            double-strand breaks
  JOURNAL   EMBO J 25 (14), 3377-3388 (2006)
   PUBMED   16810316
REFERENCE   9  (bases 1 to 1467)
  AUTHORS   Bavner A, Matthews J, Sanyal S, Gustafsson JA and Treuter E.
  TITLE     EID3 is a novel EID family member and an inhibitor of CBP-dependent
            co-activation
  JOURNAL   Nucleic Acids Res 33 (11), 3561-3569 (2005)
   PUBMED   15987788
  REMARK    GeneRIF: EID3 acts as an inhibitor of CBP/p300-dependent
            transcription in a tissue-specific manner. Publication Status:
            Online-Only
REFERENCE   10  (bases 1 to 1467)
  AUTHORS   Hu B, Liao C, Millson SH, Mollapour M, Prodromou C, Pearl LH, Piper
            PW and Panaretou B.
  TITLE     Qri2/Nse4, a component of the essential Smc5/6 DNA repair complex
  JOURNAL   Mol Microbiol 55 (6), 1735-1750 (2005)
   PUBMED   15752197
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: HM005376.1, BC027612.2 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000527879.2/ ENSP00000435619.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI461575.1 and BC027612.2.
            On May 17, 2019 this sequence version replaced NM_001008394.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1467
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.3"
     gene            1..1467
                     /gene="EID3"
                     /gene_synonym="NS4EB; NSE4B; NSMCE4B"
                     /note="EP300 interacting inhibitor of differentiation 3"
                     /db_xref="GeneID:493861"
                     /db_xref="HGNC:HGNC:32961"
                     /db_xref="MIM:612986"
     misc_feature    173..175
                     /gene="EID3"
                     /gene_synonym="NS4EB; NSE4B; NSMCE4B"
                     /note="upstream in-frame stop codon"
     CDS             197..1198
                     /gene="EID3"
                     /gene_synonym="NS4EB; NSE4B; NSMCE4B"
                     /note="E1A-like inhibitor of differentiation 3; non-SMC
                     element 4 homolog B; non-structural maintenance of
                     chromosomes element 4 homolog B; EID-3; EID-1-like
                     inhibitor of differentiation 3; testis tissue sperm-binding
                     protein Li 96mP; NSE4 homolog B"
                     /codon_start=1
                     /product="EP300-interacting inhibitor of differentiation 3"
                     /protein_id="NP_001008395.1"
                     /db_xref="CCDS:CCDS53822.1"
                     /db_xref="GeneID:493861"
                     /db_xref="HGNC:HGNC:32961"
                     /db_xref="MIM:612986"
                     /translation="MKMDVSVRAAGCSDDLSSGEADVDPKLLELTADEEKCRSIRRQYR
                     QLMYCVRQNREDIVSSANNSLTEALEEANVLFDGVSRTREAALDARFLVMASDLGKEKA
                     KQLNSDMNFFNQLAFCDFLFLFVGLNWMEGDPDKLSDCDDSIALSFWKAIEKEATSWMV
                     KAETFHFVFGSFKLERSAPKPRLEHQKKVRKMEENGNMPTKLQKLDLSSYPEATEKNVE
                     RILGLLQTYFRKYPDTPVSYFEFVIDPNSFSRTVENIFYVSFIVRDGFARIRLDEDRLP
                     ILEPMNVNQMGEGNDSSCHGRKQGVISLTLQEWKNIVAAFEISEAMITYSSY"
     regulatory      1448..1453
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EID3"
                     /gene_synonym="NS4EB; NSE4B; NSMCE4B"
                     /note="hexamer: AACAAG"
     polyA_site      1467
                     /gene="EID3"
                     /gene_synonym="NS4EB; NSE4B; NSMCE4B"
                     /note="major polyA site"
ORIGIN
        1 atgggcgggc gtcctcggct ctaactgccg ccactttcca cacgctggga gggccgttac
       61 ctcagagata cccgtggccg gcatgttggt tgaaaaagct tcccggaagg gagacgaaga
      121 gaaaggagag gagcagctcg tgatcatccc cggtagcgag tacgcggcga agtaggcggc
      181 ggcggaggga gcgctgatga agatggatgt gtcagtgagg gccgcgggct gctccgacga
      241 cctcagctct ggggaggccg acgtagaccc aaagctcctg gagctcaccg ctgacgagga
      301 gaagtgccgc agcatccgca ggcagtaccg gcagctcatg tactgcgtgc ggcagaaccg
      361 ggaggacatc gtgagctcgg cgaacaactc cttaaccgag gctctggagg aagccaacgt
      421 cctctttgat ggcgtgagcc gaaccagaga agcagccctc gacgcccggt ttcttgttat
      481 ggcttctgat ttgggtaaag aaaaggcaaa gcagttaaac tcagatatga acttctttaa
      541 tcagttagca ttttgtgact ttctgtttct gttcgtgggt ctgaattgga tggaaggcga
      601 tcctgacaag ttgagtgatt gtgatgatag catagctctt tccttctgga aggcaataga
      661 aaaggaagca acatcctgga tggtaaaagc tgagacattc cattttgttt ttggttcatt
      721 caagctagaa cgttctgcac caaagccccg acttgaacac cagaaaaaag ttcgcaagat
      781 ggaagaaaat ggcaacatgc ctacaaagtt gcagaagttg gacctgagta gttatccaga
      841 agcgacagaa aaaaacgtag aaaggatttt gggattgttg caaacctact ttcgaaagta
      901 tcctgatact cctgtgtcct attttgagtt tgtgattgat ccaaactctt tttctcgtac
      961 tgtggagaat atattttatg tttcttttat tgtaagagat ggttttgcaa gaataaggct
     1021 tgatgaagac aggctgccaa tattagagcc gatgaatgtt aaccaaatgg gtgagggaaa
     1081 tgattccagt tgccatggca ggaaacaggg agttatatct ttgactttac aggagtggaa
     1141 aaacattgtg gcagcttttg aaatttctga ggctatgatt acatactcct catactaaag
     1201 atttcttagt atagcatcct ttttgtgttt tttttctgaa gttagatgga gagtaaaatg
     1261 taaactgaag cacatattgt atctcttgta aagtgaaaaa gtattttcaa gaacatcaga
     1321 cattgtttta ctgtgcagca tatttttctt agtaatttat aaggtcatga tcttctgtta
     1381 ttaaaacaaa ttcactggca tatttatggg aacgttttat tgaatgccct ttaagactat
     1441 taataaaaac aagttttgga taccaaa
//
LOCUS       NM_001008395             594 bp    mRNA    linear   PRI 17-SEP-2023
DEFINITION  Homo sapiens late endosomal/lysosomal adaptor, MAPK and MTOR
            activator 4 (LAMTOR4), transcript variant 1, mRNA.
ACCESSION   NM_001008395
VERSION     NM_001008395.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 594)
  AUTHORS   Zhang S, Lee SH, Nie L, Huang Y, Zou G, Jung YS, Jun S, Zhang J,
            Lien EM, Chen J and Park JI.
  TITLE     Lysosomal TMEM9-LAMTOR4-controlled mTOR signaling integrity is
            required for mammary tumorigenesis
  JOURNAL   Cancer Commun (Lond) 43 (1), 159-163 (2023)
   PUBMED   36336962
  REMARK    GeneRIF: Lysosomal TMEM9-LAMTOR4-controlled mTOR signaling integrity
            is required for mammary tumorigenesis.
REFERENCE   2  (bases 1 to 594)
  AUTHORS   Jansen RM, Peruzzo R, Fromm SA, Yokom AL, Zoncu R and Hurley JH.
  TITLE     Structural basis for FLCN RagC GAP activation in MiT-TFE
            substrate-selective mTORC1 regulation
  JOURNAL   Sci Adv 8 (37), eadd2926 (2022)
   PUBMED   36103527
REFERENCE   3  (bases 1 to 594)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 594)
  AUTHORS   Rogala KB, Gu X, Kedir JF, Abu-Remaileh M, Bianchi LF, Bottino AMS,
            Dueholm R, Niehaus A, Overwijn D, Fils AP, Zhou SX, Leary D, Laqtom
            NN, Brignole EJ and Sabatini DM.
  TITLE     Structural basis for the docking of mTORC1 on the lysosomal surface
  JOURNAL   Science 366 (6464), 468-475 (2019)
   PUBMED   31601708
REFERENCE   5  (bases 1 to 594)
  AUTHORS   Rasheed N, Lima TB, Mercaldi GF, Nascimento AFZ, Silva ALS, Righetto
            GL, Bar-Peled L, Shen K, Sabatini DM, Gozzo FC, Aparicio R and
            Smetana JHC.
  TITLE     C7orf59/LAMTOR4 phosphorylation and structural flexibility modulate
            Ragulator assembly
  JOURNAL   FEBS Open Bio 9 (9), 1589-1602 (2019)
   PUBMED   31314152
  REMARK    GeneRIF: The C7orf59 was phosphorylated by protein kinase A (PKA) in
            vitro and mutation of the conserved Ser67 residue to aspartate
            prevented phosphorylation and negatively affected the C7orf59
            interaction with p18 both in cell culture and in vitro.
REFERENCE   6  (bases 1 to 594)
  AUTHORS   Rebsamen M, Pochini L, Stasyk T, de Araujo ME, Galluccio M,
            Kandasamy RK, Snijder B, Fauster A, Rudashevskaya EL, Bruckner M,
            Scorzoni S, Filipek PA, Huber KV, Bigenzahn JW, Heinz LX, Kraft C,
            Bennett KL, Indiveri C, Huber LA and Superti-Furga G.
  TITLE     SLC38A9 is a component of the lysosomal amino acid sensing machinery
            that controls mTORC1
  JOURNAL   Nature 519 (7544), 477-481 (2015)
   PUBMED   25561175
REFERENCE   7  (bases 1 to 594)
  AUTHORS   Blandin G, Marchand S, Charton K, Daniele N, Gicquel E, Boucheteil
            JB, Bentaib A, Barrault L, Stockholm D, Bartoli M and Richard I.
  TITLE     A human skeletal muscle interactome centered on proteins involved in
            muscular dystrophies: LGMD interactome
  JOURNAL   Skelet Muscle 3 (1), 3 (2013)
   PUBMED   23414517
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 594)
  AUTHORS   Bar-Peled L, Schweitzer LD, Zoncu R and Sabatini DM.
  TITLE     Ragulator is a GEF for the rag GTPases that signal amino acid levels
            to mTORC1
  JOURNAL   Cell 150 (6), 1196-1208 (2012)
   PUBMED   22980980
  REMARK    GeneRIF: Study identified HBXIP and C7orf59 as two additional
            Ragulator components that are required for mTORC1 activation by
            amino acids.
REFERENCE   9  (bases 1 to 594)
  AUTHORS   Sancak Y, Bar-Peled L, Zoncu R, Markhard AL, Nada S and Sabatini DM.
  TITLE     Ragulator-Rag complex targets mTORC1 to the lysosomal surface and is
            necessary for its activation by amino acids
  JOURNAL   Cell 141 (2), 290-303 (2010)
   PUBMED   20381137
REFERENCE   10  (bases 1 to 594)
  AUTHORS   Toulza E, Mattiuzzo NR, Galliano MF, Jonca N, Dossat C, Jacob D, de
            Daruvar A, Wincker P, Serre G and Guerrin M.
  TITLE     Large-scale identification of human genes implicated in epidermal
            barrier function
  JOURNAL   Genome Biol 8 (6), R107 (2007)
   PUBMED   17562024
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC063401.1, BI754529.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000341942.10/ ENSP00000343118.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CU450474.1 and BI598677.1.
            On Jun 2, 2019 this sequence version replaced NM_001008395.3.
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..594
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..594
                     /gene="LAMTOR4"
                     /gene_synonym="C7orf59"
                     /note="late endosomal/lysosomal adaptor, MAPK and MTOR
                     activator 4"
                     /db_xref="GeneID:389541"
                     /db_xref="HGNC:HGNC:33772"
                     /db_xref="MIM:618834"
     misc_feature    26..28
                     /gene="LAMTOR4"
                     /gene_synonym="C7orf59"
                     /note="upstream in-frame stop codon"
     CDS             56..355
                     /gene="LAMTOR4"
                     /gene_synonym="C7orf59"
                     /note="isoform 1 is encoded by transcript variant 1;
                     UPF0539 protein C7orf59; late endosomal/lysosomal adaptor
                     and MAPK and MTOR activator 4; ragulator complex protein
                     LAMTOR4"
                     /codon_start=1
                     /product="ragulator complex protein LAMTOR4 isoform 1"
                     /protein_id="NP_001008396.1"
                     /db_xref="CCDS:CCDS34702.1"
                     /db_xref="GeneID:389541"
                     /db_xref="HGNC:HGNC:33772"
                     /db_xref="MIM:618834"
                     /translation="MTSALTQGLERIPDQLGYLVLSEGAVLASSGDLENDEQAASAISE
                     LVSTACGFRLHRGMNVPFKRLSVVFGEHTLLVTVSGQRVFVVKRQNRGREPIDV"
     misc_feature    56..58
                     /gene="LAMTOR4"
                     /gene_synonym="C7orf59"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q0VGL1.1); acetylation site"
     misc_feature    59..61
                     /gene="LAMTOR4"
                     /gene_synonym="C7orf59"
                     /note="N-acetylthreonine, in Ragulator complex protein
                     LAMTOR4, N-terminally processed.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378, ECO:0007744|PubMed:25944712;
                     propagated from UniProtKB/Swiss-Prot (Q0VGL1.1);
                     acetylation site"
     misc_feature    254..256
                     /gene="LAMTOR4"
                     /gene_synonym="C7orf59"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:31314152; propagated from
                     UniProtKB/Swiss-Prot (Q0VGL1.1); phosphorylation site"
     regulatory      569..574
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LAMTOR4"
                     /gene_synonym="C7orf59"
                     /note="hexamer: AATAAA"
     polyA_site      594
                     /gene="LAMTOR4"
                     /gene_synonym="C7orf59"
                     /note="major polyA site"
ORIGIN
        1 ctgaagccgg aagctaccta tctggtaggg agctccccca gcaccgaaga ctgcgatgac
       61 ttctgcgctg acccaggggc tggagcgaat cccagaccag ctcggctacc tggtactgag
      121 tgaaggtgca gtgctggcgt catctgggga cctggagaat gatgagcagg cagccagtgc
      181 catctctgag ctggtcagca cagcctgcgg tttccggctg caccgcggca tgaatgtgcc
      241 cttcaagcgc ctgtctgtgg tctttggaga acacacactg ctggtgacgg tgtcaggaca
      301 gagggtgttt gtggtgaaga ggcagaaccg aggtcgggag cccattgatg tctgagcctg
      361 ccggagggcg agggtcggag aagcggattg ggtcctgggc ctctgtgatg aggcaggcac
      421 acctgtcggt cttggcttgc tgctagaact agggccttct gctcgcccac ctcccacccc
      481 tacctggacg ggcccaggct tggggactct gagctgtgtt aaggagaaca agggcaagga
      541 gacctccctt tgtgctccct cactccctaa taaacatgag tctgatgttc tcca
//
LOCUS       NM_001008397            3731 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens glutathione peroxidase 8 (putative) (GPX8), transcript
            variant 1, mRNA.
ACCESSION   NM_001008397
VERSION     NM_001008397.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3731)
  AUTHORS   Chen X, Yuan L, Zhang L, Chen L, He Y, Wang C, Wu J, Chen S, Zhao W
            and Yu D.
  TITLE     GPX8 deficiency-induced oxidative stress reprogrammed m6A
            epitranscriptome of oral cancer cells
  JOURNAL   Epigenetics 18 (1), 2208707 (2023)
   PUBMED   37170591
  REMARK    GeneRIF: GPX8 deficiency-induced oxidative stress reprogrammed m6A
            epitranscriptome of oral cancer cells.
REFERENCE   2  (bases 1 to 3731)
  AUTHORS   Yang ZS, Yang Q, Sun XX, Xiong K, Zhu XT, Wang YC, Ren QY, Wu GH,
            Wang SM, Cao XQ, Yang XR and Jiang WG.
  TITLE     GPX8 as a Novel Prognostic Factor and Potential Therapeutic Target
            in Primary Glioma
  JOURNAL   J Immunol Res 2022, 8025055 (2022)
   PUBMED   36052280
  REMARK    GeneRIF: GPX8 as a Novel Prognostic Factor and Potential Therapeutic
            Target in Primary Glioma. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3731)
  AUTHORS   Yin X, Zhang P, Xia N, Wu S, Liu B, Weng L and Shang M.
  TITLE     GPx8 regulates apoptosis and autophagy in esophageal squamous cell
            carcinoma through the IRE1/JNK pathway
  JOURNAL   Cell Signal 93, 110307 (2022)
   PUBMED   35288240
  REMARK    GeneRIF: GPx8 regulates apoptosis and autophagy in esophageal
            squamous cell carcinoma through the IRE1/JNK pathway.
REFERENCE   4  (bases 1 to 3731)
  AUTHORS   Zhang J, Liu Y, Guo Y and Zhao Q.
  TITLE     GPX8 promotes migration and invasion by regulating epithelial
            characteristics in non-small cell lung cancer
  JOURNAL   Thorac Cancer 11 (11), 3299-3308 (2020)
   PUBMED   32975378
  REMARK    GeneRIF: GPX8 promotes migration and invasion by regulating
            epithelial characteristics in non-small cell lung cancer.
REFERENCE   5  (bases 1 to 3731)
  AUTHORS   Khatib A, Solaimuthu B, Ben Yosef M, Abu Rmaileh A, Tanna M, Oren G,
            Schlesinger Frisch M, Axelrod JH, Lichtenstein M and Shaul YD.
  TITLE     The glutathione peroxidase 8 (GPX8)/IL-6/STAT3 axis is essential in
            maintaining an aggressive breast cancer phenotype
  JOURNAL   Proc Natl Acad Sci U S A 117 (35), 21420-21431 (2020)
   PUBMED   32817494
  REMARK    GeneRIF: The glutathione peroxidase 8 (GPX8)/IL-6/STAT3 axis is
            essential in maintaining an aggressive breast cancer phenotype.
REFERENCE   6  (bases 1 to 3731)
  AUTHORS   Morikawa K, Gouttenoire J, Hernandez C, Dao Thi VL, Tran HT, Lange
            CM, Dill MT, Heim MH, Donze O, Penin F, Quadroni M and Moradpour D.
  TITLE     Quantitative proteomics identifies the membrane-associated
            peroxidase GPx8 as a cellular substrate of the hepatitis C virus
            NS3-4A protease
  JOURNAL   Hepatology 59 (2), 423-433 (2014)
   PUBMED   23929719
  REMARK    GeneRIF: Quantitative proteomics identifies the membrane-associated
            peroxidase GPx8 as a cellular substrate of the hepatitis C virus
            NS3-4A protease.
REFERENCE   7  (bases 1 to 3731)
  AUTHORS   Nguyen VD, Saaranen MJ, Karala AR, Lappi AK, Wang L, Raykhel IB,
            Alanen HI, Salo KE, Wang CC and Ruddock LW.
  TITLE     Two endoplasmic reticulum PDI peroxidases increase the efficiency of
            the use of peroxide during disulfide bond formation
  JOURNAL   J Mol Biol 406 (3), 503-515 (2011)
   PUBMED   21215271
  REMARK    GeneRIF: GPx8 labeled as secreted glutathione peroxidase, is
            actually endoplasmic reticulum-resident protein disulfide isomerase
            peroxidase
REFERENCE   8  (bases 1 to 3731)
  AUTHORS   Toppo S, Vanin S, Bosello V and Tosatto SC.
  TITLE     Evolutionary and structural insights into the multifaceted
            glutathione peroxidase (Gpx) superfamily
  JOURNAL   Antioxid Redox Signal 10 (9), 1501-1514 (2008)
   PUBMED   18498225
REFERENCE   9  (bases 1 to 3731)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   10  (bases 1 to 3731)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC029424.1, SRR5189667.32575.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000503787.6/ ENSP00000423822.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK074216.1, CN390753.1, BX537894.1, BX647770.1 and BM988796.1.
            On Nov 23, 2018 this sequence version replaced NM_001008397.3.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3731
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q11.2"
     gene            1..3731
                     /gene="GPX8"
                     /gene_synonym="EPLA847; GPx-8; GSHPx-8; UNQ847"
                     /note="glutathione peroxidase 8 (putative)"
                     /db_xref="GeneID:493869"
                     /db_xref="HGNC:HGNC:33100"
                     /db_xref="MIM:617172"
     CDS             23..652
                     /gene="GPX8"
                     /gene_synonym="EPLA847; GPx-8; GSHPx-8; UNQ847"
                     /EC_number="1.11.1.9"
                     /note="isoform a is encoded by transcript variant 1;
                     probable glutathione peroxidase 8"
                     /codon_start=1
                     /product="probable glutathione peroxidase 8 isoform a"
                     /protein_id="NP_001008398.2"
                     /db_xref="CCDS:CCDS34156.1"
                     /db_xref="GeneID:493869"
                     /db_xref="HGNC:HGNC:33100"
                     /db_xref="MIM:617172"
                     /translation="MEPLAAYPLKCSGPRAKVFAVLLSIVLCTVTLFLLQLKFLKPKIN
                     SFYAFEVKDAKGRTVSLEKYKGKVSLVVNVASDCQLTDRNYLGLKELHKEFGPSHFSVL
                     AFPCNQFGESEPRPSKEVESFARKNYGVTFPIFHKIKILGSEGEPAFRFLVDSSKKEPR
                     WNFWKYLVNPEGQVVKFWKPEEPIEVIRPDIAALVRQVIIKKKEDL"
     misc_feature    23..25
                     /gene="GPX8"
                     /gene_synonym="EPLA847; GPx-8; GSHPx-8; UNQ847"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8TED1.2); acetylation site"
     misc_feature    74..142
                     /gene="GPX8"
                     /gene_synonym="EPLA847; GPx-8; GSHPx-8; UNQ847"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TED1.2);
                     transmembrane region"
     regulatory      3709..3714
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPX8"
                     /gene_synonym="EPLA847; GPx-8; GSHPx-8; UNQ847"
                     /note="hexamer: AATAAA"
     polyA_site      3731
                     /gene="GPX8"
                     /gene_synonym="EPLA847; GPx-8; GSHPx-8; UNQ847"
                     /note="major polyA site"
ORIGIN
        1 cttccctcta gaatcctcca acatggagcc tcttgcagct tacccgctaa aatgttccgg
       61 gcccagagca aaggtatttg cagttttgct gtctatagtt ctatgcacag taacgctatt
      121 tcttctacaa ctaaaattcc tcaaacctaa aatcaacagc ttttatgcct ttgaagtgaa
      181 ggatgcaaaa ggaagaactg tttctctgga aaagtataaa ggcaaagttt cactagttgt
      241 aaacgtggcc agtgactgcc aactcacaga cagaaattac ttagggctga aggaactgca
      301 caaagagttt ggaccatccc acttcagcgt gttggctttt ccctgcaatc agtttggaga
      361 atcggagccc cgcccaagca aggaagtaga atcttttgca agaaaaaact acggagtaac
      421 tttccccatc ttccacaaga ttaagattct aggatctgaa ggagaacctg catttagatt
      481 tcttgttgat tcttcaaaga aggaaccaag gtggaatttt tggaagtatc ttgtcaaccc
      541 tgagggtcaa gttgtgaagt tctggaagcc agaggagccc attgaagtca tcaggcctga
      601 catagcagct ctggttagac aagtgatcat aaaaaagaaa gaggatctat gagaatgcca
      661 ttgcgtttct aatagaacag agaaatgtct ccatgagggt ttggtctcat tttaaacatt
      721 ttttttttgg agacagtgtc tcactctgtc acccaggctg gagtgcagta gtgcgttctc
      781 agctcattgc aacctctgcc tttttaaaca tgctattaaa tgtggcaatg aaggattttt
      841 ttttaatgtt atcttgctat taagtggtaa tgaatgttcc caggatgagg atgttaccca
      901 aagcaaaaat caagagtagc caaagaatca acatgaaata tattaactac ttcctctgac
      961 catactaaag aattcagaat acacagtgac caatgtgcct caatatctta ttgttcaact
     1021 tgacattttc taggactgta cttgatgaaa atgccaacac actagaccac tctttggatt
     1081 caagagcact gtgtatgact gaaatttctg gaataactgt aaatggttat gttaatggaa
     1141 taaaacacaa atgttgaaaa atgtaaaata tatatacata gattcaaatc cttatatatg
     1201 tatgcttgtt ttgtgtacag gattttgttt tttcttttta agtacaggtt cctagtgttt
     1261 tactataact gtcactatgt atgtaactga catatataaa tagtcattta taaatgaccg
     1321 tattataaca tttgaaaaag tcttcatcat tttcagtatt tctctctgca ttatttttta
     1381 gaagcaactc aaattctgta atcataatat taccaagtaa gtcagtcttt atttttgcgt
     1441 gaaaatccca agtgtagaaa aaaggacatg agtataagat catttaactt gattccttat
     1501 aggctgattt gggttgctaa tgtattcgta ctagattagc cacttgggag gaattcaatg
     1561 ctgcatcatt ctgatagctg aaatagtaaa agtcaactcc aaacagccta aattctagta
     1621 taaaaagggg gtgatcatac aagtcctaaa gtgtagatca gcagtcactg aacctcttag
     1681 agtcacaagg catttcttct cccaaagtca tgacctttat attttgttag ccttataatt
     1741 gactaacaaa gcaacctgcc aagttggtga aggttaatta ttgcctcatg aaatatacat
     1801 tcatcgcata aaagaattaa ataggaagat ggccaaaaat gtaaaaaagt cgtataaatt
     1861 tgtctaagaa gaaaaagacc caatttaagt agtctgtgac ttgactccca aattctgacc
     1921 tgatggatga aagtgaagat gtttcgtatg gcaaattcag taatgctacc tcagtatata
     1981 gttctgtata cgtatttgga ccaaagttat tagataaacc aaaaatattt catgaagcat
     2041 cttctgcttc agagtccata tccagccacc cagctatgaa tgtatttaga aagatatttg
     2101 gtggaggtgg aatttctacc agaggtcaag aggatttgta gggatagcct caagaatgcc
     2161 agatgagtgt gtcagaaagc ctgctcctac ctctcgccag ctgcgtgact ttaggcaagt
     2221 cacttaagta ccttatttca gtttcctcac ctgtaaattg aacaggggtt gaatggaata
     2281 aaaagccctt tgcaactcta aaagtcaatt aacacactta ctaaggtgtt ttaagtgacc
     2341 aggaaggaaa tcagaactaa cctggattgt tagcgaagaa aacagaagcc accaacaagc
     2401 ctatctgtcc tttgcaattt tgctccaaga gcctattagc aatttgaatt ctgagcctct
     2461 aagaaaactt atgctcaggt ggcccctcca agtgttggtg ccagagcact cttgccttgt
     2521 atcctcacct acgccttcca tgaactcata gcagtgctgt ggcactgcag gggtgtttta
     2581 tgcattcacg ttaggagcat gagcagaact gcatatgcca gcaccacatg ggcagcagag
     2641 actccccact gccagatgga tgataatgga gctgcactgg gaacaaccag gactgtccca
     2701 gtcaacatga tacagatgaa catcctgcct taagtcacta gctctctcca aagccagata
     2761 aagtgggttt cttcacttac atctctctaa tcttggctgc cttattcaac ctacagactc
     2821 tatgtcagtg ctggattttc tccccttgcc ctttaggtaa gcagagtagg caggaggaga
     2881 tttgaaagcg tgtcatacat attgccttga aagaaaggac attcaggtgt cccttcgggg
     2941 ttctgtaaca attaggctat gtgtgctgag agagggagcg gagtcatttg ctgatgtgct
     3001 gctacctgta actcaaatgc ctcataggaa taccagcgga caaacacata gaggaaaagt
     3061 tgaatctttc ctatattgga caatcttcct tcagtcttgt ttctgcatca aaaagtctgg
     3121 gacacagagt gctacaggat gcctgggcta aggactgtaa cagaaaaata tcaacatcag
     3181 agcctggcac agtggctcac accggtaatc ccagcacttt gggaggccga ggcgggtgga
     3241 tcacttcagg tcaggagttc gagaccatcc tggccaacat ggtgaaaccc ccatctctac
     3301 taaaaataca aaaattagcc gggcacggtg gcacatgcct gtaatcccag ctacctggga
     3361 ggctgagtca gaagaatcac ttgaaaacag gaggctgagg ttgcaatgag ccaagattgc
     3421 accactgcac tccaacctgg gcaacagagc gagaccccat cttaaagacc ctgtctcaaa
     3481 aaagagagaa aaagaaaaag aaaaatatca ggcatcacat gaaagagtat tcagctgtcg
     3541 ttcttgtgaa aaaggaaaag gacaaaatca aatgcatttt aactgtggta actaattcac
     3601 tgacttgaag tttgctttgt ttgttttctt tggtgcgtag agaagaatac ttcatactaa
     3661 ctcctgatca tcttacagca gacataacaa cagagtgtta gagactggaa taaatatgaa
     3721 tttggctgaa a
//
LOCUS       NM_001008404            2471 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens chromosome 14 open reading frame 180 (C14orf180),
            transcript variant 2, mRNA.
ACCESSION   NM_001008404
VERSION     NM_001008404.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2471)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2471)
  AUTHORS   Zhang R, Yao F, Gao F and Abou-Samra AB.
  TITLE     Nrac, a novel nutritionally-regulated adipose and cardiac-enriched
            gene
  JOURNAL   PLoS One 7 (9), e46254 (2012)
   PUBMED   23029450
  REMARK    GeneRIF: Nrac is a nutritionally-regulated adipose and
            cardiac-enriched gene.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK095913.1, BC041103.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142680,
            SAMEA2146411 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000557649.6/ ENSP00000452502.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK095913.1, BX161457.1, AW451284.1 and BX927359.1.
            On Jun 2, 2019 this sequence version replaced NM_001008404.2.
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3' coding region, which results in a frameshift, compared to
            variant 1. The encoded isoform (b) has a distinct C-terminus and is
            shorter than isoform a. Variants 2 and 3 encode the same isoform
            (b).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2471
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.33"
     gene            1..2471
                     /gene="C14orf180"
                     /gene_synonym="C14orf77; NRAC"
                     /note="chromosome 14 open reading frame 180"
                     /db_xref="GeneID:400258"
                     /db_xref="HGNC:HGNC:33795"
                     /db_xref="MIM:619392"
     misc_feature    254..256
                     /gene="C14orf180"
                     /gene_synonym="C14orf77; NRAC"
                     /note="upstream in-frame stop codon"
     CDS             257..739
                     /gene="C14orf180"
                     /gene_synonym="C14orf77; NRAC"
                     /note="isoform b is encoded by transcript variant 2;
                     transmembrane protein C14orf180; nutritionally-regulated
                     adipose and cardiac enriched protein homolog"
                     /codon_start=1
                     /product="nutritionally-regulated adipose and cardiac
                     enriched protein homolog isoform b"
                     /protein_id="NP_001008404.1"
                     /db_xref="CCDS:CCDS32166.1"
                     /db_xref="GeneID:400258"
                     /db_xref="HGNC:HGNC:33795"
                     /db_xref="MIM:619392"
                     /translation="MRTAAGAVSPDSRPETRRQTRKNEEAAWGPRVCRAEREDNRKCPP
                     SILKRSRPEHHRPEAKPQRTSRRVWFREPPAVTVHYIADKNATATVRVPGRPRPHGGSL
                     LLQLCVCVLLVLALGLYCGRAKPVATALEDLRARLLGLVLHLRHVALTCWRGLLRL"
     misc_feature    257..463
                     /gene="C14orf180"
                     /gene_synonym="C14orf77; NRAC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N912.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    557..619
                     /gene="C14orf180"
                     /gene_synonym="C14orf77; NRAC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N912.1);
                     transmembrane region"
     regulatory      1778..1783
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C14orf180"
                     /gene_synonym="C14orf77; NRAC"
                     /note="hexamer: ATTAAA"
     polyA_site      1803
                     /gene="C14orf180"
                     /gene_synonym="C14orf77; NRAC"
                     /note="major polyA site"
ORIGIN
        1 acaacagacc cggccctgcc agcgggcggt ggcgcctcca gatcagagcc ctcgggaagg
       61 aggcctgggc gggcctggcc cgttcacctg tgtgccctgc agttctgccc gaggctcaac
      121 tctcaagggc ctgggagggg tgctgccggc caagagggtc caggacctca ctggactgtg
      181 ccccacaggg agatcccgaa gagcctgttt ctgtccctcg gggagccagg agggaaccag
      241 gaccatgttc cagtaaatga ggactgcagc aggagccgtg agccctgact cccggccaga
      301 gacacgacgt cagaccagaa agaatgagga ggccgcgtgg ggcccgcggg tgtgcagggc
      361 agagagggag gacaacagga agtgcccccc ctccatcctg aaacggagcc ggccggagca
      421 ccaccgccca gaggccaagc cccagaggac ctcgaggcgc gtgtggttcc gagaaccccc
      481 agcggtgacc gtccactaca ttgctgacaa gaacgccaca gccactgtca gggtgcccgg
      541 ccggcccagg ccacacggcg gctccctgct cctgcagctg tgtgtgtgcg tcctgctcgt
      601 gctggccctg ggcctatact gcggccgggc caagcccgtg gcaacggcac tggaggacct
      661 gcgggcccgg ctcctcggcc ttgtcctgca cctgcggcac gtggccctca cctgctggcg
      721 cggcctcctg cggctctgac gggcaggacg ggcaggacgg gcagggcttc caggagagct
      781 caagcactcc gggggctccg agacagcctg agccctggcc ctgctgcttg gtgaatcatg
      841 ggggccaaaa ggggctgctg cctgagggct aactaggaaa agggggaccc cgtggcgtga
      901 gatcggacat ggggggcaca gcaggcggcc ccgccacact agtcagcaca gccctcctgt
      961 ctcctgtgtt gggtccatgt gagattttat tagaaagagg attcgactgc taacagttga
     1021 ggctccccag gctcacccaa agacccctcc ctcgtcccag caggaactcc tgctgctgct
     1081 agggcctggc ccggccatca ccgtgtgcac cctcttgagg agggggacac actgcccgtg
     1141 ttcaaggggc tgctcggagg aggcaaaccc agccttttgc gattatggct tgtggggaat
     1201 ccagacctcg aaaccccacg gggagggaag ggtctggttg tcaaggtggg tccctttgat
     1261 gtgaggtgcc atcctctgag cccaggtctg acccccctac ccagccccgt gagtctggag
     1321 aggccccagg gaaggacccc tcatcagggg cggcttcagg tgtagaagcc gaggggacag
     1381 caaggggccc agacaccccc gaccttcaga acagccatct gtgcccagct ctgcaggcca
     1441 ggcacaccca gctgagcccg gggccagcca gcaccaccca ccagctgggg cctgtgggtc
     1501 ccggagaccg tctgtggttg tggctttgtc gccggattgc agagctgaag ggagccctgt
     1561 ggatgacaaa caccaggggc ctctccagac cctacgtggg gggagggctg aacaaagcag
     1621 ggaggcccac ggttagacac caggcagaac tgcccaggag agacacaggg acaatcagac
     1681 cagcgtcctc gaggttagcc tgaggcgggt gggcacggcc gaccatccac ccggtggttc
     1741 ctgtttgtcc caccacttaa ctgggagaca ctgttttatt aaaacacacc gtggcttcct
     1801 tcagtcttgg tgtttttata gaaatgagag aaaccagaac cgatttgcta aggaatcggc
     1861 ctcagtggcc aaagcggatg tcctgggcgc ctggaacctc cccatctcct gcaggcctgg
     1921 gagtggatgt gtccactcgg gcaggggctg accaagcccc tgggtcttga gggatgcccg
     1981 gccggctccc tttgccctgc agtcagggtg tgtccctgca actccaggtg ccagggaaca
     2041 ggtgaagtgg tctccagggt cacttccagc tttggaatcc agggagccca gagttgcggg
     2101 tggaggtaac aaaaggggct gtttccagaa gtggcccaga agggaccatg gtgggggctc
     2161 ccccggggac cctccagcat ctctccccag gcccagccca tcccacccca ccccaggaag
     2221 gaggatgggc aggttcctgc cccatattct ggatgcagaa gcagcggctc ccagaggttg
     2281 ggtctctcag agcagtcaca ggcccaggct cagccctgtg tgcttgggac acccctccag
     2341 ccccggttct gacgggggac accgcacagg ccgatctccc ccagccgctg ctgtctgtcc
     2401 actgcaaagg caacgcaagg acgtgcctgg ctttgcgggg tcccacgcta cgacctcagg
     2461 tgttttcgaa t
//
LOCUS       NM_001008409            3620 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens tubulin tyrosine ligase like 9 (TTLL9), transcript
            variant 1, mRNA.
ACCESSION   NM_001008409
VERSION     NM_001008409.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3620)
  AUTHORS   Kubo T, Yanagisawa HA, Liu Z, Shibuya R, Hirono M and Kamiya R.
  TITLE     A conserved flagella-associated protein in Chlamydomonas, FAP234, is
            essential for axonemal localization of tubulin polyglutamylase TTLL9
  JOURNAL   Mol Biol Cell 25 (1), 107-117 (2014)
   PUBMED   24196831
REFERENCE   2  (bases 1 to 3620)
  AUTHORS   Janke C, Rogowski K, Wloga D, Regnard C, Kajava AV, Strub JM,
            Temurak N, van Dijk J, Boucher D, van Dorsselaer A, Suryavanshi S,
            Gaertig J and Edde B.
  TITLE     Tubulin polyglutamylase enzymes are members of the TTL domain
            protein family
  JOURNAL   Science 308 (5729), 1758-1762 (2005)
   PUBMED   15890843
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2148874,
            SAMEA2151119 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000535842.6/ ENSP00000442515.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL160175.5, DC311815.1, AK093491.1, BC036213.1 and AL031658.11.
            On Aug 13, 2020 this sequence version replaced NM_001008409.4.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3620
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     gene            1..3620
                     /gene="TTLL9"
                     /gene_synonym="C20orf125"
                     /note="tubulin tyrosine ligase like 9"
                     /db_xref="GeneID:164395"
                     /db_xref="HGNC:HGNC:16118"
                     /db_xref="MIM:619838"
     misc_feature    268..270
                     /gene="TTLL9"
                     /gene_synonym="C20orf125"
                     /note="upstream in-frame stop codon"
     CDS             322..1641
                     /gene="TTLL9"
                     /gene_synonym="C20orf125"
                     /note="isoform 1 is encoded by transcript variant 1;
                     probable tubulin polyglutamylase TTLL9; tubulin--tyrosine
                     ligase-like protein 9; tubulin tyrosine ligase-like family,
                     member 9"
                     /codon_start=1
                     /product="probable tubulin polyglutamylase TTLL9 isoform 1"
                     /protein_id="NP_001008409.1"
                     /db_xref="CCDS:CCDS42863.1"
                     /db_xref="GeneID:164395"
                     /db_xref="HGNC:HGNC:16118"
                     /db_xref="MIM:619838"
                     /translation="MVPSREALLGPGTTAIRCPKKLQNQNYKGHGLSKGKEREQRASIR
                     FKTTLMNTLMDVLRHRPGWVEVKDEGEWDFYWCDVSWLRENFDHTYMDEHVRISHFRNH
                     YELTRKNYMVKNLKRFRKQLEREAGKLEAAKCDFFPKTFEMPCEYHLFVEEFRKNPGIT
                     WIMKPVARSQGKGIFLFRRLKDIVDWRKDTRSSDDQKDDIPVENYVAQRYIENPYLIGG
                     RKFDLRVYVLVMSVFAECLLWSGHRRQDVHLTNVAVQKTSPDYHPKKGCKWTLQRFRQY
                     LASKHGPEAVETLFRDIDNIFVKSLQSVQKVIISDKHCFELYGYDILIDQDLKPWLLEV
                     NASPSLTASSQEDYELKTCLLEDTLHVVDMEARLTGREKRVGGFDLMWNDGPVSREEGA
                     PDLSGMGNFVTNTHLGCVNDRKKQLRQLFCSLQVQKKASS"
     misc_feature    838..840
                     /gene="TTLL9"
                     /gene_synonym="C20orf125"
                     /note="Essential for specifying alpha-elongation versus
                     initiation step of the polyglutamylase activity.
                     /evidence=ECO:0000250|UniProtKB:A4Q9E8; propagated from
                     UniProtKB/Swiss-Prot (Q3SXZ7.3); other site"
     regulatory      3559..3564
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTLL9"
                     /gene_synonym="C20orf125"
                     /note="hexamer: AATAAA"
     polyA_site      3579
                     /gene="TTLL9"
                     /gene_synonym="C20orf125"
                     /note="major polyA site"
     polyA_site      3620
                     /gene="TTLL9"
                     /gene_synonym="C20orf125"
                     /note="major polyA site"
ORIGIN
        1 agtgtgccgg gcccacggcc cgcgggacaa cggcagtttg ttggggccgc gtggggccgc
       61 cacctccgga ggtgggggcg ggggccttac cccaccctgg caccggcagg cgcgggcgga
      121 tggggggatg tcgcctagag ccccccggcc ggcccacaaa ctcccgtccc ccttccggct
      181 ctgcctggac gtccctgcgg gccccggggg aaagcaccca acttctcccg cctcggcttc
      241 tagcagaaac gtgacggggc tggactttga tcgccgaggg ctctctgctc ttcagagtct
      301 gcttggaacg ggataagagg gatggtgcca tccagggaag ctctgctggg accaggcaca
      361 actgccatta ggtgccccaa gaaattacag aaccaaaatt acaagggcca tggattgtca
      421 aagggaaaag agcgagagca gagagcatcg atccggttca agaccaccct catgaacaca
      481 ctcatggacg tccttcgcca caggccagga tgggtggaag tgaaggacga aggggagtgg
      541 gatttctact ggtgtgacgt cagctggctc cgggagaact tcgaccacac ctacatggat
      601 gaacatgtgc ggatcagtca cttccggaac cactatgagc tgacccggaa gaactacatg
      661 gtgaagaacc tgaagcggtt ccggaagcag ctggagcgtg aggcaggaaa gctggaggca
      721 gccaagtgtg acttcttccc caaaaccttt gagatgcctt gcgagtacca cctgtttgta
      781 gaggagtttc gcaaaaaccc aggaatcacc tggatcatga agcctgtagc ccggtctcaa
      841 gggaaaggca tcttcctctt ccgtaggctg aaggacatcg tggactggag gaaggacaca
      901 agaagctctg acgaccagaa agatgatatt cccgtggaga actatgtggc tcagcgttac
      961 attgaaaatc cttacctgat aggaggccgc aagtttgacc tgcgtgtcta tgtgctggtg
     1021 atgtcggtgt ttgctgaatg cctgctgtgg tctgggcaca ggagacagga tgttcacctc
     1081 accaacgtgg ctgtgcaaaa aacatctccc gactaccacc caaagaaggg ctgcaagtgg
     1141 acgctgcagc gcttccggca gtacctggcg tccaaacacg ggcccgaggc agtggagaca
     1201 ctcttcaggg acatcgacaa catctttgtc aaaagcctgc agagtgtgca gaaggtgatc
     1261 atcagtgaca agcactgctt cgagctgtac ggctatgaca tcctcatcga ccaggacctc
     1321 aagccgtggc tcctggaggt caatgcgtcc ccatcactga cagccagcag ccaggaagac
     1381 tatgagctca agacctgcct cctggaagac accctgcatg ttgtggacat ggaagcgagg
     1441 ctcacgggaa gggagaagcg agtcgggggc tttgacctca tgtggaatga tggccctgtt
     1501 agcagagagg agggggctcc tgacctgtcg ggaatgggaa actttgtgac caacacacat
     1561 ctcggctgcg tcaacgatcg gaagaaacaa ctgaggcagc tcttctgctc ccttcaagtt
     1621 cagaagaaag cttccagttg atccccagct gccaggagga aatcagcctt agcaggtgcc
     1681 acccaggcct cccccccact cccagatccc agcacagcac ctcacagcat tcgcctcccc
     1741 acctccagcc tggcaccagc tttgctggct tagcagctgc agcttactac ctgaattggg
     1801 ccccttggat acctccagcc catccccagg catctttgca ccaggagaca gccaatcact
     1861 gggactgggg gaggtttaac cttgacaaac tgacttggca gttaggccca aagagaacaa
     1921 atacagcaag ttctgctacc cccaggagat catatctaat aaatgagcac aggccctact
     1981 tggagtcact gggcaccagg cctggttccg gggatactgt tggctgcagc caagtcctcc
     2041 tggctttgac acttggatac ctcccaagtc agtgctgaaa aggtccttca ggagcaagag
     2101 tttggaggct aaggaactcg tctttaagct gtgcttacac agcaagcagt tattagattg
     2161 tgtgtttatt gggggcctgg ggaagtactg agccctaaac acatcctctt ctccttgcat
     2221 gtcaggggag cccatggggc tccctgacca tcatctgaaa accagtggga cagggcatcc
     2281 ccatttctca gatggacaag acagaccagg gaggcagagc ttagtgaggg tctctgcaaa
     2341 ggtgcattta tctaagtcag atgggtgact taagtgcttc tctaggcctt gtgtttgaga
     2401 ttgggagctg agccagaaac cggaaaaccc tgggctcatg ggcaggacag cttcgggagt
     2461 tgagtgtgag taaaaatctg ccttttcaca tcttacattg ctaagcttcc tcttggttta
     2521 agaggggttg caacaagact cggggctgtt ggggtaactg ttccaggggg gacttactcc
     2581 ctctaccact ccgcctgctt cagagtagtt tctctggctg caaatggttg aatctgcctg
     2641 cctaggtcaa gcccgaaggg aagacttttg gaaggaaaat actggcaaat ccaagaagtg
     2701 aaccagccga ctttaggaaa gccagaagcc aggctactct agaccttctg ccttcagagc
     2761 atgaggactt ctcccactca tccctgtacc tgaggcacac caacccagac aggtccaggc
     2821 atggactcca ggttccctat ttccagaagg aatgcgatta gctttttttg gcccagcacc
     2881 caccctgcca gggaggaagg ggcaattttc cagtgatgaa attgtgaatc aggcagtcac
     2941 actggacaac atctagcaag gtgaattctg caactcccta ctttatttac attttaaaat
     3001 aagcaatata ttcatacggt ttaaaatcca aagtttacaa aagggtatag ggtgacatct
     3061 ccttccctcc cacctgtgcg ccccaaccct gcaggtgctg ttctgaggga atcacactgt
     3121 gcttgcacaa aaattattag cttataagac accagccttc cccttgcttt cctcacttga
     3181 tgtatcttgg agcttgttcc ttattcttga ttatagttgt atggtattgc actatctgga
     3241 gctaacacct gtgacccaca ctcatgtttt aaaagtttct gcattagtca aaaatattta
     3301 aaaggagatt caacttcaca acccatatgt ctagcttctc ttgaaaacac gtaagaactg
     3361 gccatgacag cctgtgtttc tatgtaacta tgagccagag ccaaggagcg gggggaccag
     3421 gagaggtgtg cccctgccat gctgccattt gttatcaccc gcctgtcaaa tcacaggttt
     3481 atttcaaggc aagaaccatg ttcataggtt gtattctaaa tggagtggcg tgcccttact
     3541 gaaggactag atgaggcaaa taaagactag ttgctgctat tcattcattc agctaacatt
     3601 tattgagccc ttaatgaaca
//
LOCUS       NM_001008489            1121 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens phosphatase, orphan 2 (PHOSPHO2), transcript variant 2,
            mRNA.
ACCESSION   NM_001008489
VERSION     NM_001008489.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1121)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1121)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1121)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   4  (bases 1 to 1121)
  AUTHORS   Roberts SJ, Stewart AJ, Schmid R, Blindauer CA, Bond SR, Sadler PJ
            and Farquharson C.
  TITLE     Probing the substrate specificities of human PHOSPHO1 and PHOSPHO2
  JOURNAL   Biochim Biophys Acta 1752 (1), 73-82 (2005)
   PUBMED   16054448
  REMARK    GeneRIF: Models of PHOSPHO2 and PHOSPHO1 suggest subtle differences
            in the charge distributions around the putative substrate entry site
            and in the location of potential H-bond donors.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC106013.1, SRR1660805.176816.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000359744.8/ ENSP00000352782.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC106013.1.
            On Nov 23, 2018 this sequence version replaced NM_001008489.3.
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. All variants (1-5) encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1121
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..1121
                     /gene="PHOSPHO2"
                     /note="phosphatase, orphan 2"
                     /db_xref="GeneID:493911"
                     /db_xref="HGNC:HGNC:28316"
     misc_feature    361..363
                     /gene="PHOSPHO2"
                     /note="upstream in-frame stop codon"
     CDS             385..1110
                     /gene="PHOSPHO2"
                     /EC_number="3.1.3.74"
                     /codon_start=1
                     /product="pyridoxal phosphate phosphatase PHOSPHO2"
                     /protein_id="NP_001008489.1"
                     /db_xref="CCDS:CCDS33319.1"
                     /db_xref="GeneID:493911"
                     /db_xref="HGNC:HGNC:28316"
                     /translation="MKILLVFDFDNTIIDDNSDTWIVQCAPNKKLPIELRDSYRKGFWT
                     EFMGRVFKYLGDKGVREHEMKRAVTSLPFTPGMVELFNFIRKNKDKFDCIIISDSNSVF
                     IDWVLEAASFHDIFDKVFTNPAAFNSNGHLTVENYHTHSCNRCPKNLCKKVVLIEFVDK
                     QLQQGVNYTQIVYIGDGGNDVCPVTFLKNDDVAMPRKGYTLQKTLSRMSQNLEPMEYSV
                     VVWSSGVDIISHLQFLIKD"
     regulatory      1098..1103
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHOSPHO2"
                     /note="hexamer: AATAAA"
     polyA_site      1121
                     /gene="PHOSPHO2"
                     /note="major polyA site"
ORIGIN
        1 gcagttggcg gtcgggctag agaagagagg cgcctgcgct tgcgagctgg gcttgtgagt
       61 ggggctgccg agagggcagg cgtggggcga ggccaaagga ctgaacccgc aggagcgtca
      121 cgggcgccgg ggcggctgcc gacggcggga ctgggttttc tatcagatgt tccacgtaat
      181 aatgctggag ttaagaagtt tccattattt tgctccaaac cagaagactc tgttccctgt
      241 atatagaata ggagtaatat ttgaaaacaa ctggctgatg tttaaaactg aagattgtca
      301 tgattgttta tcctaatccc aatgctgaag taagattgtc ttggaaatac taagttgggg
      361 taatccaaat ctatttctgg aaccatgaaa attttgctag tttttgactt tgacaataca
      421 atcatagatg acaatagtga cacttggatt gtacaatgtg ctcccaacaa aaagcttcct
      481 attgaactac gtgattctta tcgaaaagga ttttggacag aatttatggg cagagtcttt
      541 aagtatttgg gagataaggg tgtaagagaa catgaaatga aaagagcagt gacatcattg
      601 cctttcactc cagggatggt ggaactcttc aactttataa gaaagaataa ggataaattt
      661 gactgcatta ttatttcaga ttcaaattcg gtcttcatag attgggtttt agaagctgcc
      721 agttttcatg acatatttga taaagtgttt acaaatccag cagcttttaa tagcaatggt
      781 catctcactg ttgaaaatta tcatactcat tcttgcaata gatgcccaaa gaatctttgc
      841 aaaaaggtag ttttgataga atttgtagat aaacagttac aacagggagt gaattataca
      901 caaattgttt atattggtga tggtggaaat gatgtctgtc cagtcacctt tttaaagaat
      961 gatgatgttg ccatgccacg gaaaggatat accttacaga aaactctttc cagaatgtct
     1021 caaaatcttg agcctatgga atattctgtt gtagtttggt cctcaggtgt tgatataatt
     1081 tctcatttac aatttctaat aaaggattaa tatgtcagca a
//
LOCUS       NM_001008495            4992 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens transmembrane protein 64 (TMEM64), transcript variant
            1, mRNA.
ACCESSION   NM_001008495
VERSION     NM_001008495.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4992)
  AUTHORS   Cao D, Cai J, Li Y, Dong R, Wang Z and Zuo X.
  TITLE     [TMEM64 is highly expressed in hepatocellular carcinoma and promotes
            tumor cell proliferation and invasion]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 43 (8), 1345-1355 (2023)
   PUBMED   37712271
  REMARK    GeneRIF: [TMEM64 is highly expressed in hepatocellular carcinoma and
            promotes tumor cell proliferation and invasion].
REFERENCE   2  (bases 1 to 4992)
  AUTHORS   Dera AA, Ranganath L, Barraclough R, Vinjamuri S, Hamill S,
            Mandourah AY and Barraclough DL.
  TITLE     Altered Levels of mRNAs for Calcium-Binding/Associated Proteins,
            Annexin A1, S100A4, and TMEM64, in Peripheral Blood Mononuclear
            Cells Are Associated with Osteoporosis
  JOURNAL   Dis Markers 2019, 3189520 (2019)
   PUBMED   31814858
  REMARK    GeneRIF: Low TMEM64 expression is associated with Osteoporosis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4992)
  AUTHORS   Kim H, Kim T, Jeong BC, Cho IT, Han D, Takegahara N, Negishi-Koga T,
            Takayanagi H, Lee JH, Sul JY, Prasad V, Lee SH and Choi Y.
  TITLE     Tmem64 modulates calcium signaling during RANKL-mediated osteoclast
            differentiation
  JOURNAL   Cell Metab 17 (2), 249-260 (2013)
   PUBMED   23395171
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.15848.1,
            SRR1660803.195076.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA2467146, SAMN03267756
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000458549.7/ ENSP00000414786.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC106038.3 and AB015752.1.
            On Nov 22, 2018 this sequence version replaced NM_001008495.3.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4992
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.3"
     gene            1..4992
                     /gene="TMEM64"
                     /note="transmembrane protein 64"
                     /db_xref="GeneID:169200"
                     /db_xref="HGNC:HGNC:25441"
                     /db_xref="MIM:620429"
     misc_feature    155..157
                     /gene="TMEM64"
                     /note="upstream in-frame stop codon"
     CDS             179..1321
                     /gene="TMEM64"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="transmembrane protein 64 isoform 1"
                     /protein_id="NP_001008495.2"
                     /db_xref="CCDS:CCDS34920.2"
                     /db_xref="GeneID:169200"
                     /db_xref="HGNC:HGNC:25441"
                     /db_xref="MIM:620429"
                     /translation="MRSPGGILLQALPRLLQHAALPGLAELPARWALPRGAGGDGPADR
                     LPRGGGASAAAAAAAASGALLGAYLERHGPPEASELPEPGGALAGGPGSGGGGVVVGVA
                     EVRNWRCCCLGSTCWCRSLVLVCVLAALCFASLALVRRYLHHLLLWVESLDSLLGVLLF
                     VVGFIVVSFPCGWGYIVLNVAAGYLYGFVLGMGLMMVGVLIGTFIAHVVCKRLLTAWVA
                     ARIQSSEKLSAVIRVVEGGSGLKVVALARLTPIPFGLQNAVFSITDLSLPNYLMASSVG
                     LLPTQLLNSYLGTTLRTMEDVIAEQSVSGYFVFCLQIIISIGLMFYVVHRAQVELNAAI
                     VACEMELKSSLVKGNQPNTSGSSFYNKRTLTFSGGGINVV"
     misc_feature    326..388
                     /gene="TMEM64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6YI46.2);
                     transmembrane region"
     misc_feature    428..490
                     /gene="TMEM64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6YI46.2);
                     transmembrane region"
     misc_feature    536..598
                     /gene="TMEM64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6YI46.2);
                     transmembrane region"
     misc_feature    656..718
                     /gene="TMEM64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6YI46.2);
                     transmembrane region"
     misc_feature    734..1066
                     /gene="TMEM64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6YI46.2);
                     Region: VTT domain. /evidence=ECO:0000250|UniProtKB:P36164"
     misc_feature    740..802
                     /gene="TMEM64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6YI46.2);
                     transmembrane region"
     misc_feature    1100..1162
                     /gene="TMEM64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6YI46.2);
                     transmembrane region"
     regulatory      3424..3429
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM64"
                     /note="hexamer: AATAAA"
     polyA_site      3450
                     /gene="TMEM64"
                     /note="major polyA site"
     regulatory      4974..4979
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM64"
                     /note="hexamer: AATAAA"
     polyA_site      4992
                     /gene="TMEM64"
ORIGIN
        1 actccccgcc tggccgtcgc tcctccgctg actccgcgcc cttctacggg ccgtctccca
       61 ccctctgagc ggacgcaggg agtcgatgcc gggcgaaccg ggcgccatga agggcagctg
      121 cctaacgggc gccgcggcgg aggggctggc cggctgaggg cccgcgctgg gccgaggcat
      181 gcggagcccg ggcgggatcc tgctccaggc gctgccccgg ctgctgcagc acgccgccct
      241 cccgggcctc gccgagctgc cggcccgctg ggccctgccg cggggtgcgg gcggggacgg
      301 cccggcggac cgccttcccc gcgggggcgg ggcgagcgcg gcggcggcag cagcggcggc
      361 ctcgggcgcc ctgctcggcg cctatctgga gcgccacggt ccgcccgagg cttcggagct
      421 gccggagccg ggcggggcct tggcgggcgg ccccgggagt ggcggcggcg gcgtggtggt
      481 cggcgtggct gaggtgagaa actggcgctg ctgctgcctc ggcagcacct gttggtgccg
      541 gagcctcgtg ctggtctgcg tgttggccgc cctgtgcttc gcttccctgg ccctggtccg
      601 ccgctacctt caccacctcc tgctgtgggt ggagagcctt gactcgctgc tgggggtcct
      661 gctcttcgtc gtgggcttca tcgtggtctc tttcccctgc ggctggggct acatcgtgct
      721 caacgtggcc gctggctacc tgtacggctt cgtgctgggc atgggtctga tgatggtggg
      781 cgtcctcatc ggcaccttca tcgcccatgt ggtctgcaag cggctcctca ccgcctgggt
      841 ggccgccagg atccagagca gcgagaagct gagcgcggtt attcgcgtag tggagggagg
      901 aagcggcctg aaagtggtgg cgctggccag actgacaccc ataccttttg ggcttcagaa
      961 tgcagtgttt tcgattactg atctctcatt acccaactat ctgatggcat cttcggttgg
     1021 actgcttcct acccagcttc tgaattctta cttgggtacc accctgcgga caatggaaga
     1081 tgtcattgca gaacagagtg ttagtggata ttttgttttt tgtttacaga ttattataag
     1141 tataggcctc atgttttatg tagttcatcg agctcaagtg gaattgaatg cagctattgt
     1201 agcttgtgaa atggaactga aatcttctct ggttaaaggc aatcaaccaa ataccagtgg
     1261 ctcttcattc tacaacaaga ggaccctaac attttctgga ggtggaatca atgttgtatg
     1321 attctaatga gatacgtgat tgtcaagagc ctagtgtgct atctaaggtc tagcagtcac
     1381 ttcactagtg ggcagagaca agttctaatt gtattacagc acaaacaaaa ctgactagtt
     1441 tttaaattgc acaatttttt ttttttaaag caagaatcat tttctgggta tgtaagtgta
     1501 aatgtagatg caaatttggc tgcacctctt tatcatgcct gtattggcct ataggtctgc
     1561 actttagtgt tttttaattg ttttatttct gtgtatttac gaacagagaa ataacccaaa
     1621 tattatttct gcttagtgtc tttatttata aagcccatga gtagtttgta tgcatctttc
     1681 ctacttgtaa agatgagtaa aagtatgcag ttttaaattt ataatattat tggatgttct
     1741 ttgctttggt agtctttcca gaaaggataa acagtggttt ttgttttgtt ttgttttatt
     1801 gtttaagtgg gaccacttag cttcccgttt ccttactagt taaagaacag acattaattt
     1861 tcagttgaat gtatttttgc aggcatcata ttgttacagg gccatttaca cctattcaca
     1921 aagcttaaat cctaccttgt gggactgaag tgctcttaat ataactgttt attttcactg
     1981 tgtaatatgc aaagcaaaag ggaaattatt tggtggatgg tagctcaaaa ttggaactct
     2041 tgttctaatt cagttacatt ggctttaccc tccttagatt tttcatcaaa gggctgtccc
     2101 attgcaatct tactaaaaca ttttgttaaa ataaactctt ttccttttta tattaataat
     2161 taggctttta aataaagatg ttattccttt aaaatggtgg gcttaccatc attgaagatg
     2221 tcactcaggt ggccttgttt gatcaaaacg ccttttttaa aaaccaagct ttaaaaacat
     2281 gtttataatt tcatgaagta catatatatt gttcccatag tcttcagctt taaaactata
     2341 aatatgccca aattttgtta tttgccctac tttaagtagg tttattgtgt ttgttttttc
     2401 agtacttgtt tttctctgat aagactcagg aattctgaaa tgtgaaattg tctcaattct
     2461 ttctcttgta gcatgaatca aatgtattta ttaatagcac ttatgactat agaatataat
     2521 ttggcatatg attcatatta catatgtatt cgttttattt ttaaaatagt ttataaactt
     2581 aatgattttt ttttacaaat gaggttatag atattaatgc aaattttctg gtaggtatct
     2641 ctttttttgc tatgatgatt ccaacttatc agagacctcc catttgcctt ttcattacgg
     2701 tgaaagcttt gccctcatct actaaagtac aaaggaattc tttggaagca gattattcta
     2761 gtcttatgct agagatgaat ttgatcattt taatgtgtga tctttttgct ctatcaggta
     2821 taattgtttt cctttccttt ataatgggta agttttctca cctttgagta acagtaaagt
     2881 tcatttatat gtccatacct agaagaccag tgcaaatact ttgagagcac ctgggtctac
     2941 aggacataat tggcatctaa atcctcattt cttgctatta gtaggaaaac agatatagta
     3001 ttgtaatacc cttattcttt ttgaatccta attactcatt tcggtttttt ttctctcttt
     3061 tgaatctagt tgctggtttt cgtttaatga ttttagttta acaatcccaa ccaacaatac
     3121 atttgattta tttttttctg tctaacctga caaccttttt cttgtgcttc ttgtttgttg
     3181 gttagttttt gtgaaaggaa tcattgttta agatcactgt tttcatactt gttttacact
     3241 tcacgtattt tgaagtacat ttatttacta agcatttgtg acttgaataa tttcaccaaa
     3301 tgaatacatt ttggtagttt gtaatgagtt cttctaattg ttacactttg cttggtactt
     3361 aacaataaat atgtaaaggt aaaagaaata attttctgta ttctgccaat cttaatttta
     3421 tataataaat catccatttt tttcttaaaa tagtatggat tgactgtttc taaaatacca
     3481 atctgtggct gtggtttttc ttttcttcag catttccagc atccaagtaa acaatagtcc
     3541 cttatagtcc tgctacttga tgggtaaatt tggttgctgg gtttttaagt tgcactcaca
     3601 ataaatcgtg caaagcattg tcatgcctta tttactccat ttttaatcct gcatcccaga
     3661 tttatggcag caacacatat ctacaggata cttttatgtt gtccaaatat tgctgtcagt
     3721 catatgtact tataaaatgt ctccactcat gtatatttat agaaatgaaa tgtcaaattt
     3781 ctcagactgt taaagtgcag tataaagttg cttaatgcac acttaaaaat gatatataat
     3841 ttctgaatcc tatgaaatat gtgttctttt ttaattcttt gggagttttc ttaagtttta
     3901 catgtttttt ggtttattgt taatgatttt gtttactctt tgccaaattt tgtcatgtag
     3961 gttattttac aatagcacct ttaaaaaaaa tgtatatgct aatttactaa gcatattcat
     4021 gtccattttt atttgatcat ctgatttgtg aaataacttg aaatttgtac tgtttggttt
     4081 gtgaaaataa tattaccaaa tctctgtcat tagaatgtgt actttatgtt cagaagtgac
     4141 tgtgggttta ttcagagcca gccattctct cccttgatgc actttgtaac cagctacaca
     4201 tgcttttagg tggcttttcc ctgatagggt caagtatatg actataaaac atttttcttg
     4261 tgaagctatt aagttcatta gttactctta tttccccttg ttgtaactaa gtggtgcagg
     4321 tataagcata tccccagcat tcctgtgtgt gtgaatgtgc actgctgatt tggactgttc
     4381 ttgagaaagg tgctgtgaca tatgtcaata tttgttagct ctggggatat ctttagaatg
     4441 cttgagaaag ttgctaggtg tgtgccacat tggtgcaggt aaatccatgc tgttcacagc
     4501 caagcagcat ttgcagagaa aaggagagtt ttacatagac cccaggaaaa acagtactaa
     4561 cctggttgat ggccttggtg gtggaatttt gtttcagcca gaggctactc attatatcag
     4621 aatgatgttc agtataacac tatctgattt ttagattggt cgatttctgt tgtaatcaag
     4681 tatttaggat gtaatctttt taaagtcatt gctttaatct gaaaagccat tagaagggag
     4741 aggaatcact gttccacagg atatttaaaa ctcaggagtt caaataacct cacatattga
     4801 acataaactg ttaacttatt ccacaactaa attctaacct gatacttatg aattgcaaag
     4861 tgattgctgc aaactttttc taaggtggct gaagatttaa aatagatcat tctaaaggga
     4921 aatcagtaaa atgtcttgat aattggtatc caaatcactt gtgtgcctga gaaaataaaa
     4981 ggtaatattt ta
//
LOCUS       NM_001008536            3606 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens trichohyalin like 1 (TCHHL1), mRNA.
ACCESSION   NM_001008536
VERSION     NM_001008536.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3606)
  AUTHORS   Berna R, Mitra N, Hoffstad O, Wubbenhorst B, Nathanson KL and
            Margolis DJ.
  TITLE     Uncommon variants in FLG2 and TCHHL1 are associated with remission
            of atopic dermatitis in a large longitudinal US cohort
  JOURNAL   Arch Dermatol Res 314 (10), 953-959 (2022)
   PUBMED   34984527
  REMARK    GeneRIF: Uncommon variants in FLG2 and TCHHL1 are associated with
            remission of atopic dermatitis in a large longitudinal US cohort.
REFERENCE   2  (bases 1 to 3606)
  AUTHORS   Yamakoshi T, Makino T, Ur Rehman M, Yoshihisa Y, Sugimori M and
            Shimizu T.
  TITLE     Trichohyalin-like 1 protein, a member of fused S100 proteins, is
            expressed in normal and pathologic human skin
  JOURNAL   Biochem Biophys Res Commun 432 (1), 66-72 (2013)
   PUBMED   23376073
  REMARK    GeneRIF: These findings highlight the possibility that TCHHL1
            proteins are expressed in growing keratinocytes of the epidermis and
            might be associated with the proliferation of keratinocytes.
REFERENCE   3  (bases 1 to 3606)
  AUTHORS   Wu,Z., Latendorf,T., Meyer-Hoffert,U. and Schroder,J.M.
  TITLE     Identification of trichohyalin-like 1, an s100 fused-type protein
            selectively expressed in hair follicles
  JOURNAL   J Invest Dermatol 131 (8), 1761-1763 (2011)
   PUBMED   21614011
  REMARK    GeneRIF: We identified and characterized a novel S100 fused type
            protein expressed in hair follicles
REFERENCE   4  (bases 1 to 3606)
  AUTHORS   Eriksson N, Macpherson JM, Tung JY, Hon LS, Naughton B, Saxonov S,
            Avey L, Wojcicki A, Pe'er I and Mountain J.
  TITLE     Web-based, participant-driven studies yield novel genetic
            associations for common traits
  JOURNAL   PLoS Genet 6 (6), e1000993 (2010)
   PUBMED   20585627
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY456639.1, BC137493.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368806.2/ ENSP00000357796.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY456639.1 and AL591893.9.
            On Nov 22, 2018 this sequence version replaced NM_001008536.1.
            Summary: This gene belongs to the S100 fused-type protein (SFTP)
            gene family, and is located in a cluster of SFTP genes on
            chromosome 1q21. Several members of this family have been
            implicated in the development of complex skin disorders. This gene
            is evolutionarily conserved; its expression appears to be
            hair-specific and spatially restricted within the distal inner root
            sheath of the hair follicle. It thus may have an important role in
            hair morphogenesis. [provided by RefSeq, Aug 2013].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3606
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..3606
                     /gene="TCHHL1"
                     /gene_synonym="S100A17; THHL1"
                     /note="trichohyalin like 1"
                     /db_xref="GeneID:126637"
                     /db_xref="HGNC:HGNC:31796"
     CDS             66..2780
                     /gene="TCHHL1"
                     /gene_synonym="S100A17; THHL1"
                     /note="intermediate filament-associated protein; S100
                     calcium-binding protein A17; basalin"
                     /codon_start=1
                     /product="trichohyalin-like protein 1"
                     /protein_id="NP_001008536.1"
                     /db_xref="CCDS:CCDS30857.1"
                     /db_xref="GeneID:126637"
                     /db_xref="HGNC:HGNC:31796"
                     /translation="MPQLLRNVLCVIETFHKYASEDSNGATLTGRELKQLIQGEFGDFF
                     QPCVLHAVEKNSNLLNIDSNGIISFDEFVLAIFNLLNLCYLDIKSLLSSELRQVTKPEK
                     EKLDDVDVQATTGDGQWTVGTSPTQEKRMLPSGMASSSQLIPEESGAVGNNRVDPWREA
                     KTHNFPGEASEHNDPKNKHLEGDEQSQEVAQDIQTTEDNEGQLKTNKPMAGSKKTSSPT
                     ERKGQDKEISQEGDEPAREQSVSKIRDQFGEQEGNLATQSSPPKEATQRPCEDQEVRTE
                     KEKHSNIQEPPLQREDEPSSQHADLPEQAAARSPSQTQKSTDSKDVCRMFDTQEPGKDA
                     DQTPAKTKNLGEPEDYGRTSETQEKECETKDLPVQYGSRNGSETSDMRDERKERRGPEA
                     HGTAGQKERDRKTRPLVLETQTQDGKYQELQGLSKSKDAEKGSETQYLSSEGGDQTHPE
                     LEGTAVSGEEAEHTKEGTAEAFVNSKNAPAAERTLGARERTQDLAPLEKQSVGENTRVT
                     KTHDQPVEEEDGYQGEDPESPFTQSDEGSSETPNSLASEEGNSSSETGELPVQGDSQSQ
                     GDQHGESVQGGHNNNPDTQRQGTPGEKNRALEAVVPAVRGEDVQLTEDQEQPARGEHKN
                     QGPGTKGPGAAVEPNGHPEAQESTAGDENRKSLEIEITGALDEDFTDQLSLMQLPGKGD
                     SRNELKVQGPSSKEEKGRATEAQNTLLESLDEDNSASLKIQLETKEPVTSEEEDESPQE
                     LAGEGGDQKSPAKKEHNSSVPWSSLEKQMQRDQEPCSVERGAVYSSPLYQYLQEKILQQ
                     TNVTQEEHQKQVQIAQASGPELCSVSLTSEISDCSVFFNYSQASQPYTRGLPLDESPAG
                     AQETPAPQALEDKQGHPQRERLVLQREASTTKQ"
     misc_feature    369..2441
                     /gene="TCHHL1"
                     /gene_synonym="S100A17; THHL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QJ38.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2637..2735
                     /gene="TCHHL1"
                     /gene_synonym="S100A17; THHL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QJ38.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3586..3591
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TCHHL1"
                     /gene_synonym="S100A17; THHL1"
                     /note="hexamer: ATTAAA"
     polyA_site      3606
                     /gene="TCHHL1"
                     /gene_synonym="S100A17; THHL1"
                     /note="major polyA site"
ORIGIN
        1 acagcccgct gccccacgtt ctacctgctc tcgcttgtga actagcctct cctgagtttg
       61 taaagatgcc tcagctcctg agaaatgtcc tctgtgtaat tgagacattc cacaaatatg
      121 ccagtgagga cagtaacggg gcaacactga ctggcagaga gctgaaacaa ctcatccagg
      181 gcgagtttgg ggactttttt cagccctgtg tccttcatgc tgtggaaaaa aattcaaatc
      241 ttctgaatat tgacagtaat ggcatcatca gttttgatga atttgttctt gcaatcttca
      301 acttgttgaa cctctgttat cttgacataa aatcattact aagttctgaa ctaagacagg
      361 tgactaaacc agagaaggag aagctagatg atgtggatgt tcaggcaacc accggagatg
      421 gtcagtggac agtgggaact tcaccaactc aagaaaagag gatgcttcct tcaggaatgg
      481 catcatcatc tcagctcatc cctgaagaaa gtggagcagt tggaaataac agagtggacc
      541 catggagaga agccaagact cacaactttc caggagaagc atctgaacac aatgatccta
      601 agaacaaaca cctggaagga gatgaacaaa gtcaggaagt ggctcaagat atacaaacaa
      661 cagaagacaa tgaaggccaa cttaagacaa ataagccaat ggcaggatca aaaaagacca
      721 gcagtcccac agagaggaag ggacaagata aggagatctc ccaggaagga gatgaaccag
      781 ccagagagca aagtgtttcc aagataagag accagtttgg agaacaggaa ggaaacttgg
      841 caacccaaag ttcaccacca aaagaagcaa cacaaagacc atgtgaagat caggaagtta
      901 gaacagaaaa ggaaaaacac tctaatatac aagaaccacc cctacaaaga gaagatgagc
      961 ccagttcaca gcatgctgac ctgccagaac aagctgctgc caggtcacca tctcagacac
     1021 agaaatcaac tgattccaag gatgtctgta gaatgtttga cactcaagaa ccaggaaagg
     1081 atgctgacca gacaccagct aaaacaaaga atttgggtga acctgaggat tatggcagaa
     1141 catctgagac ccaagaaaaa gaatgtgaaa caaaggacct gccagtccaa tatggtagca
     1201 gaaatggttc agaaacatct gacatgagag atgaaaggaa agagaggaga ggtcctgagg
     1261 cccatggaac agcagggcag aaagaacgtg acagaaaaac tcggccacta gtcctggaaa
     1321 cccaaacaca ggatgggaag tatcaggaac tccaaggatt atcaaaatca aaagatgctg
     1381 aaaaaggttc tgagacacaa tatctaagct cagaaggagg agatcagact caccctgaac
     1441 ttgaaggaac agcagtctca ggagaagagg cagaacacac caaagaaggc acagcagaag
     1501 catttgtgaa cagcaaaaac gcacctgcag cagaaaggac actgggggca agagaaagaa
     1561 cacaagattt agcaccactt gagaagcagt ctgtaggaga aaatactagg gtcaccaaga
     1621 ctcatgacca accagttgag gaggaggatg gttaccaggg ggaggaccct gagtcaccat
     1681 tcacacagag tgatgagggg tcttctgaaa ctcccaacag cctggcttca gaggaaggca
     1741 atagcagctc agagacaggt gaactgcctg tgcaagggga ctcccagagt caaggggacc
     1801 aacatggaga gtctgtgcaa ggaggtcaca ataataaccc agatacccag aggcagggaa
     1861 cacctggtga gaaaaacaga gctctggagg cagtggtacc agcagtcaga ggagaggatg
     1921 tacagctcac agaggaccag gaacagcctg ccagaggaga acacaagaat caaggcccag
     1981 ggaccaaagg cccaggtgca gctgtggagc ccaatggaca cccagaagca caggaatcca
     2041 cagcaggaga tgaaaataga aagtccctgg aaatagagat cacaggtgcc ctggatgaag
     2101 acttcactga ccagctttcc ctaatgcagc tccctggaaa gggagatagc agaaatgaat
     2161 taaaggtcca aggcccaagt agcaaagaag agaaaggaag agcaacagag gcccagaata
     2221 ctctgttaga aagtctagat gaggacaatt cagcctccct caagatacaa cttgaaacaa
     2281 aggaacctgt aacatcagag gaggaagatg aaagtcccca agagctggca ggagaaggtg
     2341 gtgaccaaaa aagtccagcc aagaaagagc acaattcttc agtcccctgg tcaagtcttg
     2401 aaaagcagat gcagagagac caagagccct gttctgtgga gaggggtgca gtctattcca
     2461 gtccactata ccagtaccta caggagaaga tactgcagca aacaaatgta acccaagagg
     2521 agcatcaaaa gcaagttcag atagcccagg catcaggccc agagctttgc agtgtatccc
     2581 tcaccagtga gatctcagat tgttctgtct ttttcaacta cagccaagca tcacaaccat
     2641 ataccagggg acttccactt gatgagagtc ctgctggtgc acaggaaaca ccagctcccc
     2701 aggccttgga agataagcaa ggtcaccctc agagagagag gctggtacta caaagggagg
     2761 caagcaccac aaagcaatga atcattatca tctcaacatg cccccaattt ctctcccaat
     2821 caccctcaat actcacgtgt acacattcag atgcagatta acaatctttt aaattctctt
     2881 cctaaatttc tacaaaaaca aataataaaa tattcagcag tgggggacac cactaaagaa
     2941 acatctgagc aaacaaatac agtcagtaaa actcctacca aacaatgcta cttccaaatg
     3001 ccaaaatggg ctttgtcatg agacagttta tctcaatgta cctgtcatta aaaatggaaa
     3061 aattccttcc atatctttag caggtgccag tttttccaac tgattcattg aatttaaaat
     3121 agagcagtag gaaattataa gactctgcaa taatatctca taatcataaa atattaattc
     3181 atatatatag attactctgc ttcatgacat ttcctagaag tatttcaagt tcatcctaaa
     3241 attttatcct tcaaaataat tttagacaat gccataactt aattatgatt ttctagcact
     3301 tgattaaagt aaatttatga ctctgctcat gttcaggtgc agctgaatct atcgccatgg
     3361 attcattctt tcaattactc atccaacaaa tttttattaa atcccactcc ttacacaaac
     3421 ttttcatagc ttttggctca aataaacaat caagaataat tatgagagaa aacacaaatc
     3481 taaagtatgt ttgattttat aagaagctct tgtaaccaac catccagtga gtctactaag
     3541 tgtttaccta tatggtttga tgagggtatt aaattaaaat tgataattaa acaacctgat
     3601 gatcaa
//
LOCUS       NM_001008537           11717 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens neurite extension and migration factor (NEXMIF), mRNA.
ACCESSION   NM_001008537
VERSION     NM_001008537.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 11717)
  AUTHORS   Celik G, Gunay M, Vural A, Kizilay O, Demirkol YK and Erol MK.
  TITLE     Clinical evaluation of torpedo maculopathy in an infant population
            with additional genetic testing for NEXMIF mutation
  JOURNAL   Eye (Lond) 36 (8), 1639-1644 (2022)
   PUBMED   34326501
  REMARK    GeneRIF: Clinical evaluation of torpedo maculopathy in an infant
            population with additional genetic testing for NEXMIF mutation.
REFERENCE   2  (bases 1 to 11717)
  AUTHORS   Langley E, Farach LS, Koenig MK, Northrup H, Rodriguez-Buritica DF
            and Mowrey K.
  TITLE     NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and
            Mexican descent
  JOURNAL   Am J Med Genet A 188 (6), 1688-1692 (2022)
   PUBMED   35146903
  REMARK    GeneRIF: NEXMIF pathogenic variants in individuals of Korean,
            Vietnamese, and Mexican descent.
REFERENCE   3  (bases 1 to 11717)
  AUTHORS   Chen S, Deng X, Xiong J, Chen B, He F, Yang L, Yang L, Peng J and
            Yin F.
  TITLE     NEXMIF mutations in intellectual disability and epilepsy: A report
            of 2 cases and literature review
  JOURNAL   Zhong Nan Da Xue Xue Bao Yi Xue Ban 47 (2), 265-270 (2022)
   PUBMED   35545418
  REMARK    GeneRIF: NEXMIF mutations in intellectual disability and epilepsy: A
            report of 2 cases and literature review.', trans 'NEXMIF2.
REFERENCE   4  (bases 1 to 11717)
  AUTHORS   Gamirova RG, Barkov AI, Shaimuchametova VA, Liukshina NG, Volkov IV,
            Tomenko TR, Rachmanina OA, Shestakova OI and Gorobets EA.
  TITLE     [Epilepsy and other phenotypic features of X-linked intellectual
            disability caused by the mutations in the KIAA2022 gene]
  JOURNAL   Zh Nevrol Psikhiatr Im S S Korsakova 122 (9. Vyp. 2), 14-20 (2022)
   PUBMED   36170093
  REMARK    GeneRIF: [Epilepsy and other phenotypic features of X-linked
            intellectual disability caused by the mutations in the KIAA2022
            gene].', trans 'Epilepsiya i drugie fenotipicheskie osobennosti
            X-stseplennoi intellektual'noi nedostatochnosti, obuslovlennoi
            mutatsiyami gena KIAA2022.
REFERENCE   5  (bases 1 to 11717)
  AUTHORS   Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B,
            Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z,
            Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF,
            Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk OL, Cairns A,
            Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D,
            Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR,
            Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC,
            Koolen DA, Korff C, Kury S, Lesca G, Lev D, Leventer RJ, Mackay MT,
            Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E,
            Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS,
            Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider
            AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K,
            Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G,
            Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC,
            Patel C, Zhang YH, Moller RS and Scheffer IE.
  TITLE     NEXMIF encephalopathy: an X-linked disorder with male and female
            phenotypic patterns
  JOURNAL   Genet Med 23 (2), 363-373 (2021)
   PUBMED   33144681
  REMARK    GeneRIF: NEXMIF encephalopathy: an X-linked disorder with male and
            female phenotypic patterns.
REFERENCE   6  (bases 1 to 11717)
  AUTHORS   Charzewska A, Rzonca S, Janeczko M, Nawara M, Smyk M, Bal J and
            Hoffman-Zacharska D.
  TITLE     A duplication of the whole KIAA2022 gene validates the gene role in
            the pathogenesis of intellectual disability and autism
  JOURNAL   Clin Genet 88 (3), 297-299 (2015)
   PUBMED   25394356
REFERENCE   7  (bases 1 to 11717)
  AUTHORS   Magome T, Hattori T, Taniguchi M, Ishikawa T, Miyata S, Yamada K,
            Takamura H, Matsuzaki S, Ito A, Tohyama M and Katayama T.
  TITLE     XLMR protein related to neurite extension (Xpn/KIAA2022) regulates
            cell-cell and cell-matrix adhesion and migration
  JOURNAL   Neurochem Int 63 (6), 561-569 (2013)
   PUBMED   24071057
  REMARK    GeneRIF: Xpn regulates cell-cell and cell-matrix adhesion and
            cellular migration by regulating the expression of adhesion
            molecules
REFERENCE   8  (bases 1 to 11717)
  AUTHORS   Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira
            A, de Brouwer AP, Cabrol C, Haas SA, Cacciagli P, Moutton S, Landais
            E, Motte J, Colleaux L, Bonnet C, Villard L, Dupont J and Man HY.
  TITLE     Loss of function of KIAA2022 causes mild to severe intellectual
            disability with an autism spectrum disorder and impairs neurite
            outgrowth
  JOURNAL   Hum Mol Genet 22 (16), 3306-3314 (2013)
   PUBMED   23615299
  REMARK    GeneRIF: study describes 3 new families with likely pathogenic
            mutations of KIAA2022 and further defined clinical and genetic
            phenotypes; role of KIAA2022 in neuronal development, together with
            the clinical features of patients observed, provides evidence that
            KIAA2022 is essential for proper brain development
REFERENCE   9  (bases 1 to 11717)
  AUTHORS   Ishikawa T, Miyata S, Koyama Y, Yoshikawa K, Hattori T, Kumamoto N,
            Shingaki K, Katayama T and Tohyama M.
  TITLE     Transient expression of Xpn, an XLMR protein related to neurite
            extension, during brain development and participation in neurite
            outgrowth
  JOURNAL   Neuroscience 214, 181-191 (2012)
   PUBMED   22531377
REFERENCE   10  (bases 1 to 11717)
  AUTHORS   Cantagrel V, Lossi AM, Boulanger S, Depetris D, Mattei MG, Gecz J,
            Schwartz CE, Van Maldergem L and Villard L.
  TITLE     Disruption of a new X linked gene highly expressed in brain in a
            family with two mentally retarded males
  JOURNAL   J Med Genet 41 (10), 736-742 (2004)
   PUBMED   15466006
  REMARK    GeneRIF: disrupted in X-linked mental retardation
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY563507.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2152798,
            SAMEA2155984 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000055682.12/ ENSP00000055682.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA776009.1, AY563507.1, AL139395.7 and AI167637.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001008537.2.
            Summary: An inversion on the X chromosome which disrupts this gene
            and a G-protein coupled purinergic receptor gene located in the
            pseudoautosomal region of the X chromosome has been linked to X
            linked cognitive disability.[provided by RefSeq, Mar 2009].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..11717
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.3"
     gene            1..11717
                     /gene="NEXMIF"
                     /gene_synonym="KIAA2022; KIDLIA; MRX98; XLID98; XPN"
                     /note="neurite extension and migration factor"
                     /db_xref="GeneID:340533"
                     /db_xref="HGNC:HGNC:29433"
                     /db_xref="MIM:300524"
     misc_feature    603..605
                     /gene="NEXMIF"
                     /gene_synonym="KIAA2022; KIDLIA; MRX98; XLID98; XPN"
                     /note="upstream in-frame stop codon"
     CDS             618..5168
                     /gene="NEXMIF"
                     /gene_synonym="KIAA2022; KIDLIA; MRX98; XLID98; XPN"
                     /note="XLMR protein related to neurite extension;
                     XLMR-related protein, neurite extension"
                     /codon_start=1
                     /product="neurite extension and migration factor"
                     /protein_id="NP_001008537.1"
                     /db_xref="CCDS:CCDS35337.1"
                     /db_xref="GeneID:340533"
                     /db_xref="HGNC:HGNC:29433"
                     /db_xref="MIM:300524"
                     /translation="MDNQQDKAIVASANGENTLINGVKENDSEDQDVAMKSFAALEAAA
                     PIQPTPVAQKETLMYPRGLLPLPSKKPCMQSPPSPLGLIEAPEHAANSASVNAISLTSG
                     IAKGLNTWSLPNECEKAPFAIMEPAGMSALNGDCLMQPSRTCLGCFMESKDAVDPEPGI
                     SLKVGDLNRDYETCAVSDIGIQCINAGENMKYGEQLLSDQLLGFPLHKSRAGDRRETEK
                     PDIDLEDPAQKSYYEALLLDKCNTEEALLANSNQDWGYFETFISESKIELLDLCSKNEL
                     SVNLFSEEDVDNYMFDDDESTLGSDVCSLKIRYESFQDNVRDKTTLLMQEDAQFNFFPS
                     VFTTCPKRESKSGALKQSSDFSQFKVPDVSIIWGEEDKNLDKKKGKEEGQEDKGVEKKD
                     GKDNGEKPALNKPCSGTEVEQLKNPKQGHLANSLETSGSFSDDSSFIEISYDAMGEIKD
                     CSRYMARDTNSGSSSSQQNYGLRAKRKVRYSEDYLYDVDSLEGEKVNERKEWLPVGSKE
                     EDDDEWCPKKRRKVTRKEPPVIIKYIIINRFKGEKNMLVKLGKVDASETTVNLSENQLN
                     KYAKLAPLKGFWQKKKKQRNTNTDSIKTPFSQKQSFEPGSFEVSFLPPARKRKSKLGNR
                     HRIQRIPSIEISASSKQISLCNDQRHASNHKEDGGLKGTLKSAPLGAPSCANGSHLNDI
                     TGPDSVKVKAQDTEFKGPERKVLNKIKFKSEARLKSKKVKAAGQESKPIVQMSPLLENQ
                     SSKANLKNEVIPGTSNSSRLSEFHEAKAAKSSTFLPTTCSSEMPLSSANVTTNIPVIPG
                     GYLQTLLDASDLSNNTSISYFSHHSPEQNEGSLTQTEKSFVPLQPTQDCVLTSSSDSEL
                     QQSSHNFKMESSNYRNVWPNKATSGTQEFMAEVSREIAPTQSSEFGASQVVSMENNLTP
                     TTYNPICLNSGGSNCNKVLYDSMQDTQLPSDDSYQLCHFNNGEICFPFQQGPVNMDDGR
                     LFSFDSMAPLSVSSSNYCSLSLKSCEKDGDDDITDDFLAHCSPKLVIQQSIDEIAPLKE
                     STDLLDISNFTPDKFRHSSLSEMSPPDTPSLSPQITRCESMKTLGTLKGFQEGVPGPLD
                     SVEKIKWDCSTLSRQVQMEDGFTLNNHQFQFHMFNDEDSVSLLQKNPCLSTFNDPSGQI
                     STNNKVSKSRKKSSPSKSGAMNQSSSQKNTRKKSLKGNNKGIEKPPGKNSRQVPKSTKK
                     GKYMAAINGEKMQIGIGRGGSQTNTISSTGKTLAECIQHGGPMASMKMPSQKGLSGDWA
                     LGKESSPGWSDMSMGTNTNSLLDDDQREFQEPSYILSNIASGMADVQRFMMASIEPLWE
                     PMEHHGDPNIFYSPESNSLKLKTLKILAGTPQESKKKINSGSQGATKNHRSIKGVSKSN
                     GKTAIGDPGRANMPGYNEDSRSTFFDKKYSNMSTLGNNGPTHKKLYRHKSSSKALRDEK
                     CKGKHMEREQVHKDESGTASFEKLRDSDYNLLKAETTFWVLPVFEEETRIFQKDI"
     misc_feature    1755..1937
                     /gene="NEXMIF"
                     /gene_synonym="KIAA2022; KIDLIA; MRX98; XLID98; XPN"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QGS0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2382..2447
                     /gene="NEXMIF"
                     /gene_synonym="KIAA2022; KIDLIA; MRX98; XLID98; XPN"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QGS0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4089..4292
                     /gene="NEXMIF"
                     /gene_synonym="KIAA2022; KIDLIA; MRX98; XLID98; XPN"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QGS0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4734..4874
                     /gene="NEXMIF"
                     /gene_synonym="KIAA2022; KIDLIA; MRX98; XLID98; XPN"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QGS0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4926..5054
                     /gene="NEXMIF"
                     /gene_synonym="KIAA2022; KIDLIA; MRX98; XLID98; XPN"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QGS0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      11695..11700
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NEXMIF"
                     /gene_synonym="KIAA2022; KIDLIA; MRX98; XLID98; XPN"
                     /note="hexamer: AATAAA"
     polyA_site      11717
                     /gene="NEXMIF"
                     /gene_synonym="KIAA2022; KIDLIA; MRX98; XLID98; XPN"
                     /note="major polyA site"
ORIGIN
        1 aaaaccagta gcatcagcag cagcagcagc agccgccgcc gccaccaccg ccgccacagc
       61 agtagcatta gcggcagtag cagcatttag caatagcttt aacagctata gcgacagtag
      121 cagccgccct cctctctccc tctcgcggac ggccgcagcc accgcacaga gcgggctcca
      181 ggcgccgagc gcgcagcccg ctcgctaggt agctccagcc ggggcgagcg acagtgtaag
      241 cgaagcacgg acccttggag cagccgggca gccgcggagg ctctgagttt cagggccaga
      301 gcccgacagc tctgactcca tctagcgcgg cggcggcgga gcctgaggga gcgagcgagg
      361 agagaggcgc gtccacctgg cgggcccagc gtatggagct gaggcagagg cggcggcggc
      421 ggcggcagca gtagcagcgg cggtggcggc taaggcagct cgaacagctg cggcgacggc
      481 gacagcccag ccttgactgc gaccgcgcta gctacagcgc ctgctgcctg agcccgccag
      541 cgacgtgcgc ctcgggagtc ggcctgtgag gttggacagc atttggactt ggaatgaaac
      601 aataagaggt tatattcatg gataaccaac aagataaggc tattgttgcc tcagccaacg
      661 gagaaaacac tctgattaat ggggtcaaag aaaatgactc agaggaccag gatgtggcaa
      721 tgaagtcatt tgcagctcta gaagctgctg cacctatcca gcctacaccg gtggcacaaa
      781 aagagaccct gatgtatccc agaggtctcc tgcctctacc ctctaagaag ccctgtatgc
      841 agagcccgcc ctctcctttg ggcctgattg aagcacccga acatgctgct aatagtgctt
      901 ctgtgaatgc catctccctc acatctggca ttgcaaaagg cctgaacaca tggtcacttc
      961 ccaatgaatg tgagaaagct ccatttgcca taatggagcc tgcaggcatg tcagctctga
     1021 atggggactg tctcatgcag ccaagtcgga cttgcttagg ctgcttcatg gaatccaagg
     1081 atgcagtaga tcctgagcca gggatcagtc tgaaagttgg tgatctaaat agggattatg
     1141 aaacgtgtgc agtctctgat atagggattc agtgtattaa tgctggagaa aatatgaaat
     1201 atggagagca gctgctctca gaccagctcc taggcttccc cctgcataag tcaagggcag
     1261 gagacagacg agaaactgag aaacctgaca ttgacttgga ggatccggct cagaaaagct
     1321 attatgaggc attactgtta gacaagtgca atacagaaga agctttgctt gcaaattcca
     1381 atcaggattg gggttacttc gagactttta ttagtgaaag taagattgaa ctgcttgacc
     1441 tctgttccaa aaatgagctg tctgtcaacc tattctctga agaagatgtg gataactaca
     1501 tgtttgatga tgatgaatca acactaggca gtgatgtctg ctccctgaaa attcgatatg
     1561 aatcctttca ggacaatgtt cgagacaaga ctactctttt gatgcaggaa gatgcccaat
     1621 tcaacttttt tcccagcgtc tttactacct gccccaagcg agagtctaag agtggggccc
     1681 tgaagcagag cagtgatttt tcccaattca aggtccctga tgtgagcatc atctgggggg
     1741 aggaagataa aaacttggac aagaagaaag gcaaagagga aggacaggaa gacaaaggtg
     1801 tagagaagaa agatggaaag gataatggag aaaagcctgc cttaaataaa ccatgcagtg
     1861 ggactgaagt agagcaactt aagaatccaa agcagggcca tcttgctaat tccctggaga
     1921 catcagggag tttcagtgat gatagttcct tcattgagat ctcatatgat gctatgggtg
     1981 agatcaagga ctgtagtcgc tatatggctc gggacactaa ttctggcagc tcctcctccc
     2041 aacagaacta tgggctgcga gccaagagaa aagtcagata cagtgaagat tatctatatg
     2101 atgttgactc actagagggt gaaaaagtaa atgagaggaa ggaatggctg ccagttggtt
     2161 ccaaagagga agatgatgat gaatggtgtc ccaaaaagag aagaaaagta acccgtaagg
     2221 agccccctgt tattatcaaa tatatcatca ttaatcgctt taaaggtgag aagaacatgc
     2281 tggtgaagtt gggtaaggtg gatgccagtg agacaacagt gaatttgagt gagaatcagc
     2341 tcaacaaata tgccaagctg gcacccttga aaggcttctg gcaaaagaag aagaagcaga
     2401 gaaacaccaa cacggactcc atcaagacac ctttttccca aaagcaaagc tttgaaccag
     2461 gtagctttga ggtgtcattt ctgccacctg ctcgcaaacg aaaatctaaa cttggcaaca
     2521 ggcacaggat tcaaagaatc ccatccattg aaatttcagc aagtagtaaa cagatttcat
     2581 tatgtaatga tcagaggcac gctagtaatc ataaagaaga tggaggccta aaaggtacac
     2641 tgaagtcagc acctctgggt gctcctagct gtgcaaatgg atcacattta aatgacatca
     2701 caggccctga ctcagtgaaa gtcaaagccc aagacacaga gtttaagggg ccagagagga
     2761 aagtgctcaa taaaatcaaa tttaaaagtg aagctaggtt aaaatctaag aaagtcaaag
     2821 ctgctgggca agaaagcaag ccaattgttc aaatgagccc tctcttggaa aaccaatcct
     2881 caaaggctaa tttaaagaat gaagttattc ctgggacatc aaacagttcc cgtctatctg
     2941 aatttcatga ggcaaaggct gctaagagtt ccacttttct accaacgaca tgctcttctg
     3001 aaatgccttt atcatctgct aatgttacca ctaatatacc tgttatcccg ggagggtatc
     3061 tgcagacatt gttagatgct tctgacttgt caaataacac tagtatctca tacttcagcc
     3121 accattctcc agagcaaaat gaaggcagcc tcactcaaac cgaaaaatca tttgtacccc
     3181 tccagcctac ccaggactgt gtgctcacct catcctctga ctctgagctg cagcagtcat
     3241 ctcataactt caaaatggaa tcaagcaact atagaaatgt gtggcccaac aaggctactt
     3301 ctggcaccca ggaattcatg gctgaagtct caagggagat agccccaacc caatccagtg
     3361 aatttggagc ctcccaagta gtctccatgg aaaataacct cacacctaca acatacaatc
     3421 caatctgtct caatagtggt ggcagtaatt gcaacaaggt cctgtatgac tccatgcaag
     3481 atacccaact cccatctgat gactcttacc aattatgtca ctttaataat ggagagatct
     3541 gctttccttt ccagcagggg ccagtcaata tggatgatgg tcggctcttt agctttgatt
     3601 caatggcccc actctctgtc agctcaagta attattgctc cttaagcttg aagtcctgtg
     3661 aaaaggatgg cgatgatgat atcactgatg acttcctggc ccattgcagc cctaagctgg
     3721 tgatccagca aagcattgat gagatagcac cactaaagga gtccactgac ctcctggata
     3781 tatccaactt cacccctgac aaattccgcc actcttccct ttcagagatg tccccaccgg
     3841 acacccctag tctttcccct caaattacca gatgtgagag tatgaagaca ctaggaacac
     3901 taaaggggtt ccaagagggt gtcccaggac cattggacag tgtggaaaaa atcaagtggg
     3961 actgcagtac cctttcacgg caggtccaaa tggaggatgg atttacttta aataatcacc
     4021 agtttcagtt ccatatgttc aatgatgagg attctgtcag cctgctccaa aaaaaccctt
     4081 gcctgtcaac atttaatgat ccatctggtc aaattagtac caacaacaaa gtgtcaaaat
     4141 caagaaagaa aagttcaccc agcaagagtg gggctatgaa ccaaagctct tctcagaaaa
     4201 acaccaggaa aaaatccctc aaaggtaaca acaaggggat tgaaaaacca cctggcaaaa
     4261 actcccgcca ggtccctaag tccacaaaga aagggaaata catggctgcc atcaatggag
     4321 agaaaatgca aattggcatt ggccgtgggg gaagccaaac caacaccata tcctccactg
     4381 ggaagacatt ggctgaatgt atccaacatg gtggccctat ggcctctatg aagatgccaa
     4441 gtcaaaaggg actttctgga gattgggcct tggggaagga gagcagccca ggctggagtg
     4501 atatgagcat gggcaccaac accaacagcc ttctggatga tgaccaacgg gaatttcagg
     4561 agccttccta tatcttgtcc aacattgcct ctggtatggc agatgtgcag agattcatga
     4621 tggcctccat agagcccctt tgggaaccca tggagcacca tggggatccc aacatattct
     4681 actcccctga gtccaatagt ctaaaattaa aaaccctcaa aatattggct gggacaccac
     4741 aggagtctaa gaaaaagatc aacagtgggt cccaaggagc cactaagaat cacaggtcaa
     4801 tcaagggtgt gagcaaaagc aatgggaaaa cagcaatagg tgatcctggt cgtgcaaaca
     4861 tgcctggtta taacgaggac tctcgctcta ccttctttga taaaaagtat agtaacatga
     4921 gcactttagg caataacgga ccgacacaca aaaagttgta tcgtcacaaa tccagctcca
     4981 aggccctgag agatgagaaa tgtaagggaa agcacatgga gcgagaacag gtccacaagg
     5041 atgagtctgg gacagcttct tttgaaaaac tgagggattc cgactacaat ctcctaaaag
     5101 cagaaacaac cttttgggtt ttacctgtgt ttgaagaaga gactcgcatt ttccagaaag
     5161 acatttgatg tttgtgtttt atttctttca aaatatgcct tgtggtatgt atgttgacat
     5221 gtaagtgctt aaagaaaaga attttaaatt gtgggaatac gtctttggag caaactttaa
     5281 tctcatgttc tatgtaaaag acttaaaaag tcatacagtt gcacaagtag tttatgcact
     5341 atttacccac aaggaaaaaa ttgaaaacat tgtgccaaac tacaaacaag tgactgtact
     5401 gtatatattt ttacttctat atcaacattt ggttgtattt ggggaagttg tccctgttaa
     5461 tttactagaa acattccagt gattcttgct attaaccacc cccacttatg tggatagcac
     5521 ctgtagatca tggtggaaaa atatgttgtg ttacacaatt taccaaaatt aaaggatact
     5581 gtttgaaatg tgccaaattt tcttacctca tctcacagat tcacccacag tttaaagctc
     5641 attaattatt tttaaatgga tatatacaca cccaaacata tatatgtata tgtttgtgtg
     5701 tgtgtgtgtg tgtgtatata tatgtatata tatatataca cacacacacg ttcttttaaa
     5761 gttttagact ctactgtcct gtgtggaaac atgaacagct aaacaaggca aaataaagat
     5821 tttcttgttc cattgtgtaa gggttaaaat tttggaaaag tctgaaggcc acaacagcta
     5881 agtccatcag ggacccaagt atatgcattt acagaacgtt ttacaaggaa acaaaacagc
     5941 tgctttcaaa gtttgttttc taaaagcaaa atctgtagct gaaaattatt taaagtgcaa
     6001 agttatattg ctgatacttt atatctcagt tttatatatt ttataatagt ctgggataaa
     6061 ttataaaaat agctataaaa tcaacactaa tgataaatga agtatataga atgcttttat
     6121 ttaaatagtt tcctaaatgt tttattccag ttttgtcaaa agtgcactca tatcatggct
     6181 ttagtgttct ttcagtgttt aatcttgcaa tgccaatgtc atttaaagaa aatgttaagg
     6241 catcccagtt caaccaaatt tttcttctta tgagtaaagt acatttacta tcagataaga
     6301 tgaacaattt gtggcaacaa ctgatttggg ccatataccc ttagtctgag gataaccaat
     6361 atttgatgcc acacactaaa cttaaatctc aattttaagt acaaattttt aaatcacatt
     6421 ttttattcag tactccccct actttttaaa aaaaatttca cagccccaac attcctcact
     6481 actacttttt cttccctttt attcaccact tgacttctaa catttgatct cttttctttg
     6541 cacaattgaa ggcctgtgca tctgatgact gatgcattat ggcacagatg agataatgga
     6601 tgtgagagcg ctttgtagat cataaagtgc tatacagata taggggatta atattattaa
     6661 tattgttagt tgttgtcgtt gttactattc ttattaatat tgttactaac ctattaactt
     6721 gtgaatatat aggctggggt gggagggtgg agaataagtg ggaagggaaa aaggggattt
     6781 aacaaaaaaa gggaagatgt ttcaaaagga aaattttaag caaaatatga acctacctag
     6841 tcaatgccac ctaaatgtat tcacaaacag agaagcaaca tttgaaagta gtcagagaga
     6901 aatggaagga agcctgtcat gtatataagt atatacactt cccggtccat gattcctttc
     6961 accagcctgc tctattcctt acagctgggt cgtaaaatga acaagcctgt gttcttgatc
     7021 atgtgtgttc ccagcgtcag tctcttgtgt ctgtggggat gagtgggtga ggagcattct
     7081 gtgaggctgg tacaggccca ttcctaggct ttaatgctct gtttgcagtg agccctggaa
     7141 aattacttag tggaaaggca ccagatgaaa catgtctcct gccccatagc taccattcaa
     7201 aagggaaaat aaccaaactg gaaaaccttc ttctatttct ctattctgat agctagctgt
     7261 actaaatgct atggccagtc cctagaaact ggtctttgtt ttgtttttgt ttttgttttt
     7321 gatttttctg ttttgcagct gaattttggc ttggaatcac caactctgcc tgtattgtga
     7381 tccccaagac tccagacctc agagtcacct gctggcttag aggagtggag tgctttctat
     7441 gtaatgaaaa ggtggcaatt aatgaaaaaa taaagaaaat gttccattaa tacaatgtgt
     7501 ttttataaaa gtaaatatgg gagcagttgt cccagttttt tttcggtatc agttcagctt
     7561 tggagaatgg ggtgtgagtg gggtaggaca gcctgaaact gttggaaaca atttccttgt
     7621 gagaacttgc tatcataagt cctttggaat ggatattctt tcagttgctc ctatggagcc
     7681 cattaagggc caattctagg gcatagttca tccctttctc caaagagaat tgttatttta
     7741 aagtaccttt ttaattggcc tgcagtgtat tatatgtttt taatatataa attagtgacg
     7801 cataaccagt cactttgtac tgaaacataa aaagaaacag agtttgagaa atgagcaata
     7861 ggccgaggca gaagatgttt attctcttaa ttgcatttaa tattcctctc agtacattgt
     7921 gttctgagat gttcatcatt tagcattttg ttggtcctgt ctctgctctc acagttcttt
     7981 ttcttcctgt cataaccagc tgccttagta gagtataaaa atagtgtttt gccctatcac
     8041 tggtatctca agtcagaaat atatattatc cttggtctga aattcctgat taccgctccc
     8101 ttctaacctt ccccctctga gaagctgttt cctattaatg cctccctaac agagtcccat
     8161 ttaatcttta ctttcctgga aatggtaacc tcccttattc ttcttactta atctcagacc
     8221 ttggtcttag aatttttctt ttatggtctc atatcccacc tgcccaaatt gtcagggctc
     8281 aacaatctta ggctgctttc ttctggaagt tcagaaggaa accttcccat tcttaattgc
     8341 ctttaattgc tttggctatt ttcaaatcta attttttaat taaatttttt ttaattttta
     8401 tagagtaggg gtacaaggac agttgtgtta catggatata ttgcttagtg ttgaaatctg
     8461 ggcttttagt gtacccatca ccgaaatagt gtacattgta cccaataggt ggtatttcat
     8521 ccctcaaata taattttaaa cacacactcg tgcccacatg gacaaattat atcacatgac
     8581 tgaggaaact tagaaattcc ttttccctga agatctgtta agaataggtc tcatctcctg
     8641 ccctggttag gtgctatatt atatggagaa gggtattgag actttggggg tcatgtttgg
     8701 gctgtgataa ctggcttgaa ccagtgacca tcctttctgc ctcgccaagg tctcttatac
     8761 cagcttcttc acatatgctg cttcctccca gctttccctt ctgacttctt gttactctgc
     8821 aactatgtgt caaggcctta ccttttcctg atgttttcaa acctcctgca ttactttgat
     8881 catcacttct tcagccatct cactgaagtc cttggtgcta gctgggcttt tgtgacaact
     8941 ttcaccttct ctgaactttt tccttgctgg gaagcatctg cgtgtgtgag ggggctacgg
     9001 agggaagtgt gtgtgtgtgt aagagagagg caaaaggatg cttcaaaagc tataaacaac
     9061 tctagcaagc atcctaagtc ctatgtgagg ttttgcagtt ctagtgaatt tctgttttag
     9121 taggtttcaa ttagcattta ctgcctaaag gagaaaaacc atatccaagg accttttagc
     9181 catgcttgct attaccaagc tggaccagtg tgatgtagat ccaacatgtc ttcagcttac
     9241 agatgctctc agaacagttc caagaattga agagagctaa gtttttatgc tgaagaggag
     9301 aatggagcac tagctagtcc taactattgc tagaaataga aatgtttatt ttctccttta
     9361 ttattgagaa attatctaat ttaaggagta accattttca tttagggatt tttttaatga
     9421 ctgcccatca ctacagaaat atgttctttt tataaaataa aactaatgtg aggttggttt
     9481 gttttctaat cataaaattc actaagccta tagttacatt tagaagattt agtaccaaaa
     9541 tcaaactttt agtaacaaac aggaatcttg tcaacacaat gtaggccagg gattttgtaa
     9601 aggtttctca aagacccaaa taagggagaa aaaaatttta gttgggctgt ttaacttggg
     9661 aaacactgtc atcagcttga gggtcctcag ccagcatgtg attattttga tgacaggact
     9721 caggctaccc tttaaggcac attttttact cagcattaaa cactagctac agtcgtgaag
     9781 cagagctccc attgcagcta catacttgag atgtactctt ggtttcagaa tcgtaactaa
     9841 gaggtaaggc attggagaag gacaatgtaa aagacagagg tttagaacaa agtttatggt
     9901 gtgaatgagg ctttcaaaat cagtatctgg gtaaattgat actaaagaca ctgaagaaac
     9961 actcatccac ataagatgga aaggatgtct gtccatctaa caagctcagg ggtttctgag
    10021 tctcagaatg acatcccatt tcaaaaagaa gaaaagagat attgaaatca ttctgcctgt
    10081 ttgagagatg actggttatt tacagcacaa aaaaaggctt agaatgaaaa ctagaagagg
    10141 ccttttgttt ttcactccca gtgaggagag tagaaatctt aagatgctct actgggctac
    10201 ctgtagcact gactggagtt tgctgcctac agagttttga atgtactagt ccttagtttc
    10261 catagaactg aatgcacctc tttagtaagt tgctgattta tggtgctaaa gaaaatgatt
    10321 attcccattt ttttcttctt ccccaagccc cttaagcatt taagaaaatt taaaataaaa
    10381 gcgttagagg ccctttttat gaatgtaacc taagtttctg tttgacatat gacactgcaa
    10441 cttaaaaatg ttaggaaatt atttgccttt ttttttcttt tagagttaag ctttataaat
    10501 aatctgtaga atcaattgaa gtttaaagct taaggatcac tcttaagacg tctacaaaat
    10561 cttgtatatt tttaagtgtg ccaatttgta acatattttg taagtgtata tttttcttag
    10621 aaaagtgctg tgaagtgtct gtatgtgaga gttttccttt ttctgcacca ctaggtgcta
    10681 ataaaaggat atttacttca aagtttctgg ttttagaaac cacaatacaa agaaaaaaaa
    10741 tacacttttg ttggaaattt tgtaacacaa aacatgttgt gaaagagtgt agtgatcttg
    10801 tgcaaaaaaa atgaacattt gtgagcttct tgctgtttta tagattttct tgtaaattat
    10861 tcttgtaaca cttctggttt tgttgttctt gttgcgaagg tttcaaatat ttgtgactga
    10921 atgtacggtg aaactgtcat aatgttacct agctgagttt tgttattgtt tatgaaataa
    10981 ataaaaagaa aagtttaaaa tactgcttta gaatcatatg tattagaaat caaaccattt
    11041 ctaattaaat ctatgtccca aataaaacgt tctttatcat ctagagcagt gtttctcaaa
    11101 ctatctgtgg tgagggacca atagtttttg caatccatca cagaccaata ctattataaa
    11161 acacaacaaa aatgaatttc taagaaagtt aaatggaaaa aagatatgca aaataaaagc
    11221 ccaaatgtat tagatttaac atgtaaaatt acatttcgag ataaacataa cataagggga
    11281 aagaaacgaa ttgcaaaaag ttggtaccct gtttgagaca agtccactca tcaatgtcaa
    11341 attgccatag aaggttctaa tcatactttg aataatactt tgactagacc agcagcattg
    11401 ccatcatctg ggaacttgtt aggaatgcga aattccaagc cctacaccaa ttctgctgaa
    11461 tgagaatctg aattttaaca agatccctag gtgttttgtg tgcatgttaa agtttgagaa
    11521 gcactgggct agagttttgt gtaggggatt cttttgcccc tcaaattgag gaatcatctt
    11581 ctagtgtgtc cagtcttcaa agaccttaaa acaaattgtg tctttgtttt gtgatccaga
    11641 tggaatctgc agagatgcag tcctctcaaa gtgttaaagc tgtttattga aagtaataaa
    11701 tgctgatttg cctggta
//
LOCUS       NM_001008661            1815 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens kynurenine aminotransferase 3 (KYAT3), transcript
            variant 1, mRNA.
ACCESSION   NM_001008661
VERSION     NM_001008661.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1815)
  AUTHORS   Meng X, Wang L, He M, Yang Z, Jiao Y, Hu Y and Wang K.
  TITLE     Cysteine conjugate beta-lyase 2 (CCBL2) expression as a prognostic
            marker of survival in breast cancer patients
  JOURNAL   PLoS One 17 (6), e0269998 (2022)
   PUBMED   35771747
  REMARK    GeneRIF: Cysteine conjugate beta-lyase 2 (CCBL2) expression as a
            prognostic marker of survival in breast cancer patients. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1815)
  AUTHORS   Matysik-Wozniak A, Junemann A, Turski WA, Wnorowski A, Jozwiak K,
            Paduch R, Okuno E, Moneta-Wielgos J, Choragiewicz T, Maciejewski R
            and Rejdak R.
  TITLE     The presence of kynurenine aminotransferases in the human cornea:
            Evidence from bioinformatics analysis of gene expression and
            immunohistochemical staining
  JOURNAL   Mol Vis 23, 364-371 (2017)
   PUBMED   28706436
  REMARK    GeneRIF: Immunohistochemical analysis revealed the presence of KAT
            I, II, and III in all examined corneal sections. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1815)
  AUTHORS   Pinto JT, Krasnikov BF, Alcutt S, Jones ME, Dorai T, Villar MT,
            Artigues A, Li J and Cooper AJ.
  TITLE     Kynurenine aminotransferase III and glutamine transaminase L are
            identical enzymes that have cysteine S-conjugate beta-lyase activity
            and can transaminate L-selenomethionine
  JOURNAL   J Biol Chem 289 (45), 30950-30961 (2014)
   PUBMED   25231977
  REMARK    GeneRIF: human KAT III/CCBL2 possesses cysteine S-conjugate
            beta-lyase activity, as does mouse KAT II
REFERENCE   4  (bases 1 to 1815)
  AUTHORS   Claes S, Myint AM, Domschke K, Del-Favero J, Entrich K, Engelborghs
            S, De Deyn P, Mueller N, Baune B and Rothermundt M.
  TITLE     The kynurenine pathway in major depression: haplotype analysis of
            three related functional candidate genes
  JOURNAL   Psychiatry Res 188 (3), 355-360 (2011)
   PUBMED   21492941
  REMARK    GeneRIF: The haplotype of KAT III gene CGCTCT may have effect on the
            function of this enzyme in formation of kynurenic acid in some
            patients with major depressive episodes.
REFERENCE   5  (bases 1 to 1815)
  AUTHORS   Yu P, Li Z, Zhang L, Tagle DA and Cai T.
  TITLE     Characterization of kynurenine aminotransferase III, a novel member
            of a phylogenetically conserved KAT family
  JOURNAL   Gene 365, 111-118 (2006)
   PUBMED   16376499
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY028624.1, SRR5189652.100848.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000260508.9/ ENSP00000260508.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY028624.1.
            On Nov 24, 2018 this sequence version replaced NM_001008661.2.
            Summary: This gene encodes an aminotransferase that transaminates
            kynurenine to form kynurenic acid, which is a metabolite of
            tryptophan. Multiple alternatively spliced transcript variants that
            encode different proteins have been described for this gene. This
            gene shares 5' exon structure with the RNA binding motif protein,
            X-linked-like 1 locus on chromosome 1, but the coding sequences are
            non-overlapping. [provided by RefSeq, Mar 2017].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest protein (isoform 1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1815
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.2"
     gene            1..1815
                     /gene="KYAT3"
                     /gene_synonym="CCBL2; KAT3; KATIII"
                     /note="kynurenine aminotransferase 3"
                     /db_xref="GeneID:56267"
                     /db_xref="HGNC:HGNC:33238"
                     /db_xref="MIM:610656"
     misc_feature    17..19
                     /gene="KYAT3"
                     /gene_synonym="CCBL2; KAT3; KATIII"
                     /note="upstream in-frame stop codon"
     CDS             47..1411
                     /gene="KYAT3"
                     /gene_synonym="CCBL2; KAT3; KATIII"
                     /EC_number="2.6.1.7"
                     /EC_number="4.4.1.13"
                     /EC_number="2.6.1.63"
                     /note="isoform 1 is encoded by transcript variant 1;
                     kynurenine--oxoglutarate transaminase 3;
                     cysteine-S-conjugate beta-lyase 2; kynurenine
                     aminotransferase III; kynurenine--oxoglutarate transaminase
                     III; kynurenine--glyoxylate transaminase"
                     /codon_start=1
                     /product="kynurenine--oxoglutarate transaminase 3 isoform
                     1"
                     /protein_id="NP_001008661.1"
                     /db_xref="CCDS:CCDS30766.1"
                     /db_xref="GeneID:56267"
                     /db_xref="HGNC:HGNC:33238"
                     /db_xref="MIM:610656"
                     /translation="MFLAQRSLCSLSGRAKFLKTISSSKILGFSTSAKMSLKFTNAKRI
                     EGLDSNVWIEFTKLAADPSVVNLGQGFPDISPPTYVKEELSKIAAIDSLNQYTRGFGHP
                     SLVKALSYLYEKLYQKQIDSNKEILVTVGAYGSLFNTIQALIDEGDEVILIVPFYDCYE
                     PMVRMAGATPVFIPLRSKPVYGKRWSSSDWTLDPQELESKFNSKTKAIILNTPHNPLGK
                     VYNREELQVIADLCIKYDTLCISDEVYEWLVYSGNKHLKIATFPGMWERTITIGSAGKT
                     FSVTGWKLGWSIGPNHLIKHLQTVQQNTIYTCATPLQEALAQAFWIDIKRMDDPECYFN
                     SLPKELEVKRDRMVRLLESVGLKPIVPDGGYFIIADVSLLDPDLSDMKNNEPYDYKFVK
                     WMTKHKKLSAIPVSAFCNSETKSQFEKFVRFCFIKKDSTLDAAEEIIKAWSVQKS"
     misc_feature    50..52
                     /gene="KYAT3"
                     /gene_synonym="CCBL2; KAT3; KATIII"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q6YP21.1); acetylation site"
     misc_feature    392..394
                     /gene="KYAT3"
                     /gene_synonym="CCBL2; KAT3; KATIII"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q6YP21.1); acetylation site"
     regulatory      1794..1799
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KYAT3"
                     /gene_synonym="CCBL2; KAT3; KATIII"
                     /note="hexamer: AATAAA"
     polyA_site      1815
                     /gene="KYAT3"
                     /gene_synonym="CCBL2; KAT3; KATIII"
                     /note="major polyA site"
ORIGIN
        1 agtcgggact cgagcctagg gaggcgaggt tcccgcaccg gatagcatgt ttttggccca
       61 gaggagcctc tgctctctta gcggtagagc aaaattcctg aagacaattt cttcttccaa
      121 aatcctcgga ttctctactt ctgctaaaat gtcactgaaa ttcacaaatg caaaacggat
      181 tgaaggactt gatagtaatg tgtggattga atttaccaaa ttggctgcag acccttctgt
      241 tgtgaatctt ggccaaggct ttccagatat atcccctcct acatatgtaa aagaagaatt
      301 atcaaagatt gcagcaatcg atagcctgaa tcagtataca cgaggctttg gccatccatc
      361 acttgtgaaa gctctgtcct atctgtatga aaagctttat caaaagcaaa ttgattcaaa
      421 taaagaaatc cttgtgacag taggagcata tggatctctt tttaacacca ttcaagcatt
      481 aattgatgag ggagatgaag tcatactaat agtgcctttc tatgactgct atgagcccat
      541 ggtgagaatg gctggagcaa cacctgtttt tattcccctg agatctaaac ctgtttatgg
      601 aaaaagatgg tctagttctg actggacatt agatcctcaa gaactggaaa gtaaatttaa
      661 ttccaaaacc aaagctatta tactaaatac tccacataac ccacttggca aggtgtataa
      721 cagagaggaa ctgcaagtaa ttgctgacct ttgcatcaaa tatgacacac tctgcatcag
      781 cgatgaggtt tatgaatggc ttgtatattc tggaaataag cacttaaaaa tagctacttt
      841 tccaggtatg tgggagagaa caataacaat aggaagtgct ggaaagactt tcagtgtaac
      901 tggctggaag cttggctggt ccattggtcc aaatcatttg ataaaacatt tacagacagt
      961 tcaacaaaac acgatttata cttgtgcaac tcctttacag gaagccttgg ctcaagcttt
     1021 ctggattgac atcaagcgca tggatgaccc agaatgttac tttaattctt tgccaaaaga
     1081 gttagaagta aaaagagatc ggatggtacg tttacttgaa agtgttggcc taaaacccat
     1141 agttcctgat ggaggatact tcatcatcgc tgatgtgtct ttgctagatc cagacctctc
     1201 tgatatgaag aataatgagc cttatgacta taagtttgtg aaatggatga ctaaacataa
     1261 gaaactatca gccatccccg tttcagcatt ctgtaactca gagactaaat cacagtttga
     1321 gaagtttgtg cgtttttgct tcattaaaaa agacagcaca ctggatgctg ctgaagaaat
     1381 catcaaggca tggagtgtac agaagtcttg atttgtgcag aatggattaa tgtttctgtt
     1441 agatgaccta gtatggaatt gttacttagt gctgccacct gctggatgtt aaaaggtatt
     1501 tcagtacaac tggaatttaa atatttccat tgtttttcca aagcagttaa cccaactcct
     1561 aacaacattt tcgggggatc tgaccttttt tttccagttg aaatgtatta acacaccttc
     1621 cacaatcatt ttataagagt cagcataaca tagtggataa gaaatgtgag atgtttaacc
     1681 tctcagtaac tcggttctct cattataaaa taggaataaa atcagtacct gtttcatatg
     1741 aaggtcgttt ctgagaatta aatggactaa tgtatgcaaa aagcctggca aacaataaac
     1801 actcatctga cttta
//
LOCUS       NM_001008693            1633 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens cystatin 9 (CST9), mRNA.
ACCESSION   NM_001008693
VERSION     NM_001008693.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1633)
  AUTHORS   Eaves-Pyles T, Patel J, Arigi E, Cong Y, Cao A, Garg N, Dhiman M,
            Pyles RB, Arulanandam B, Miller AL, Popov VL, Soong L, Carlsen ED,
            Coletta C, Szabo C and Almeida IC.
  TITLE     Immunomodulatory and antibacterial effects of cystatin 9 against
            Francisella tularensis
  JOURNAL   Mol Med 19 (1), 263-275 (2013)
   PUBMED   23922243
  REMARK    GeneRIF: The current report is the first to show the
            immunomodulatory and antimicrobial functions of rCST9 against
            Francisella tularensis. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1633)
  AUTHORS   Frygelius J, Arvestad L, Wedell A and Tohonen V.
  TITLE     Evolution and human tissue expression of the Cres/Testatin subgroup
            genes, a reproductive tissue specific subgroup of the type 2
            cystatins
  JOURNAL   Evol Dev 12 (3), 329-342 (2010)
   PUBMED   20565543
REFERENCE   3  (bases 1 to 1633)
  AUTHORS   Kottgen A, Pattaro C, Boger CA, Fuchsberger C, Olden M, Glazer NL,
            Parsa A, Gao X, Yang Q, Smith AV, O'Connell JR, Li M, Schmidt H,
            Tanaka T, Isaacs A, Ketkar S, Hwang SJ, Johnson AD, Dehghan A,
            Teumer A, Pare G, Atkinson EJ, Zeller T, Lohman K, Cornelis MC,
            Probst-Hensch NM, Kronenberg F, Tonjes A, Hayward C, Aspelund T,
            Eiriksdottir G, Launer LJ, Harris TB, Rampersaud E, Mitchell BD,
            Arking DE, Boerwinkle E, Struchalin M, Cavalieri M, Singleton A,
            Giallauria F, Metter J, de Boer IH, Haritunians T, Lumley T,
            Siscovick D, Psaty BM, Zillikens MC, Oostra BA, Feitosa M, Province
            M, de Andrade M, Turner ST, Schillert A, Ziegler A, Wild PS,
            Schnabel RB, Wilde S, Munzel TF, Leak TS, Illig T, Klopp N,
            Meisinger C, Wichmann HE, Koenig W, Zgaga L, Zemunik T, Kolcic I,
            Minelli C, Hu FB, Johansson A, Igl W, Zaboli G, Wild SH, Wright AF,
            Campbell H, Ellinghaus D, Schreiber S, Aulchenko YS, Felix JF,
            Rivadeneira F, Uitterlinden AG, Hofman A, Imboden M, Nitsch D,
            Brandstatter A, Kollerits B, Kedenko L, Magi R, Stumvoll M, Kovacs
            P, Boban M, Campbell S, Endlich K, Volzke H, Kroemer HK, Nauck M,
            Volker U, Polasek O, Vitart V, Badola S, Parker AN, Ridker PM,
            Kardia SL, Blankenberg S, Liu Y, Curhan GC, Franke A, Rochat T,
            Paulweber B, Prokopenko I, Wang W, Gudnason V, Shuldiner AR, Coresh
            J, Schmidt R, Ferrucci L, Shlipak MG, van Duijn CM, Borecki I,
            Kramer BK, Rudan I, Gyllensten U, Wilson JF, Witteman JC,
            Pramstaller PP, Rettig R, Hastie N, Chasman DI, Kao WH, Heid IM and
            Fox CS.
  TITLE     New loci associated with kidney function and chronic kidney disease
  JOURNAL   Nat Genet 42 (5), 376-384 (2010)
   PUBMED   20383146
REFERENCE   4  (bases 1 to 1633)
  AUTHORS   Hwang SJ, Yang Q, Meigs JB, Pearce EN and Fox CS.
  TITLE     A genome-wide association for kidney function and endocrine-related
            traits in the NHLBI's Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S10 (2007)
   PUBMED   17903292
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1633)
  AUTHORS   Puente XS and Lopez-Otin C.
  TITLE     A genomic analysis of rat proteases and protease inhibitors
  JOURNAL   Genome Res 14 (4), 609-622 (2004)
   PUBMED   15060002
REFERENCE   6  (bases 1 to 1633)
  AUTHORS   Sun H, Li N, Wang X, Liu S, Chen T, Zhang L, Wan T and Cao X.
  TITLE     Molecular cloning and characterization of a novel cystatin-like
            molecule, CLM, from human bone marrow stromal cells
  JOURNAL   Biochem Biophys Res Commun 301 (1), 176-182 (2003)
   PUBMED   12535658
  REMARK    GeneRIF: Data report the cloning of a novel human cystatin-like
            molecule (CLM) from human bone marrow stromal cell (BMSC) cDNA
            library.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF494536.1, BC137303.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000376971.4/ ENSP00000366170.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121894.26.
            On Nov 22, 2019 this sequence version replaced NM_001008693.2.
            Summary: The cystatin superfamily encompasses proteins that contain
            multiple cystatin-like sequences. Some of the members are active
            cysteine protease inhibitors, while others have lost or perhaps
            never acquired this inhibitory activity. There are three inhibitory
            families in the superfamily, including the type 1 cystatins
            (stefins), type 2 cystatins and the kininogens. The type 2 cystatin
            proteins are a class of cysteine proteinase inhibitors found in a
            variety of human fluids and secretions, where they appear to
            provide protective functions. The cystatin locus on chromosome 20
            contains the majority of the type 2 cystatin genes and pseudogenes.
            This gene is located in the cystatin locus and encodes a secreted
            protein that may play a role in hematopoietic differentiation or
            inflammation. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1633
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.21"
     gene            1..1633
                     /gene="CST9"
                     /gene_synonym="CLM; CTES7A"
                     /note="cystatin 9"
                     /db_xref="GeneID:128822"
                     /db_xref="HGNC:HGNC:13261"
                     /db_xref="MIM:616543"
     misc_feature    18..20
                     /gene="CST9"
                     /gene_synonym="CLM; CTES7A"
                     /note="upstream in-frame stop codon"
     CDS             54..533
                     /gene="CST9"
                     /gene_synonym="CLM; CTES7A"
                     /note="cystatin-like molecule; testatin"
                     /codon_start=1
                     /product="cystatin-9 precursor"
                     /protein_id="NP_001008693.2"
                     /db_xref="CCDS:CCDS33450.1"
                     /db_xref="GeneID:128822"
                     /db_xref="HGNC:HGNC:13261"
                     /db_xref="MIM:616543"
                     /translation="MSSPQRRKAMPWALSLLLMGFQLLVTYAWCSEEEMGGNNKIVQDP
                     MFLATVEFALNTFNVQSKEEHAYRLLRVLSSWREDSMDRKWRGKMVFSMNLQLRQTVCR
                     KFEDDIDNCPFQESLELNNVRQGISFPQVHSCGCCMGCGVGTGAADKAIPRDKGK"
     sig_peptide     54..137
                     /gene="CST9"
                     /gene_synonym="CLM; CTES7A"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
ORIGIN
        1 agtggacgcc agggatctga agggcaaagg caagggctgc tggagcctgc atcatgtcga
       61 gtccgcagag gaggaaggct atgccctggg cactgtcact gcttctcatg ggcttccagc
      121 tcctggtgac ttatgcctgg tgttctgaag aggaaatggg tggtaataat aaaatagtcc
      181 aggatcctat gttcctcgcc acagtggagt ttgccttgaa cactttcaac gtgcagagca
      241 aggaggagca tgcctacagg ctgttgcgcg tcctgagttc atggagggag gatagcatgg
      301 acagaaagtg gcgaggtaag atggtgttct ccatgaatct gcaactgcgc caaaccgtat
      361 gtaggaaatt tgaagatgac attgacaact gcccttttca agaaagcctg gagctgaaca
      421 acgtaagaca gggcatcagc tttcctcagg tccacagctg tggatgctgc atggggtgtg
      481 gtgtgggcac aggagcagct gacaaagcca ttccgaggga caaagggaag tgagcccaca
      541 gcaggctgta ccaggctgcc ctgcttgtgc cttagtggga agcccagtga ggcattaagc
      601 ccaggggttc actttcaggc ccctggccaa tctgagtttc ctgattctgc cctctgacac
      661 cattgcagct gcctgcacct gggccacatg gccttcagaa ccttctctct ggtcttcctc
      721 cccacttctt ccctgccttc tagagaaaga gcctggagac aatggtgaca atgtctgtgg
      781 gtacttttct cagggtttcc ctaccctgcc ctagacccaa aagtggtgga ggctgagaag
      841 aagccccact gccctcgctc ctaggccctg ctgagctgca gcacctgctc taggggacga
      901 gctccaagca aagcctggct ctgggaaaac ttcccattct tagtcaaccc ccttattgta
      961 agattaacaa ataggtaact aattgcctaa gtctgggaac tgcttccact gggacaaaac
     1021 attctcctgc tgctcttgga tgcagggatc acaccaggac agcctggggt tcccctgagg
     1081 ggcacgggct ggaggaggag gcatggcaca agtgaccctg gctaaggagg gagggagcct
     1141 caaatcacgt tgtagttcag gattggcctc aggctcaggc tagacctgaa ggccagagcc
     1201 acgtggcaca attgctggcc ccaggaatgg gcaaggtgga gatggaacct gtgttgaggg
     1261 cagatgccac aagattcccg aacctcccca aaccccgccc tactgtctct tcctgtttgt
     1321 tccctcggac cttcagctgc ttcttcactg ttgaaaccat gccctggaag acatattttg
     1381 aactcctgaa caagacctgc tcagaggggc tctcctgagt ggaagccact cacatgcctg
     1441 gccacatgct gccccctccc ccgtggacac cagctgttcc caggagttga catatcagtg
     1501 gctgagcagc tccgtgcata tttgttctct tattttgcaa gtgtctgagg ttttatgact
     1561 tggcatttta gaaaatcctc actgtccagg ttcctcaagt agaataggtc attaaacatc
     1621 agcatttgca gaa
//
LOCUS       NM_001008703             818 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens small integral membrane protein 29 (SMIM29), transcript
            variant 2, mRNA.
ACCESSION   NM_001008703
VERSION     NM_001008703.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 818)
  AUTHORS   Deng X, Sabino EC, Cunha-Neto E, Ribeiro AL, Ianni B, Mady C, Busch
            MP and Seielstad M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 818)
  AUTHORS   N'Diaye A, Chen GK, Palmer CD, Ge B, Tayo B, Mathias RA, Ding J,
            Nalls MA, Adeyemo A, Adoue V, Ambrosone CB, Atwood L, Bandera EV,
            Becker LC, Berndt SI, Bernstein L, Blot WJ, Boerwinkle E, Britton A,
            Casey G, Chanock SJ, Demerath E, Deming SL, Diver WR, Fox C, Harris
            TB, Hernandez DG, Hu JJ, Ingles SA, John EM, Johnson C, Keating B,
            Kittles RA, Kolonel LN, Kritchevsky SB, Le Marchand L, Lohman K, Liu
            J, Millikan RC, Murphy A, Musani S, Neslund-Dudas C, North KE,
            Nyante S, Ogunniyi A, Ostrander EA, Papanicolaou G, Patel S,
            Pettaway CA, Press MF, Redline S, Rodriguez-Gil JL, Rotimi C,
            Rybicki BA, Salako B, Schreiner PJ, Signorello LB, Singleton AB,
            Stanford JL, Stram AH, Stram DO, Strom SS, Suktitipat B, Thun MJ,
            Witte JS, Yanek LR, Ziegler RG, Zheng W, Zhu X, Zmuda JM, Zonderman
            AB, Evans MK, Liu Y, Becker DM, Cooper RS, Pastinen T, Henderson BE,
            Hirschhorn JN, Lettre G and Haiman CA.
  TITLE     Identification, replication, and fine-mapping of Loci associated
            with adult height in individuals of african ancestry
  JOURNAL   PLoS Genet 7 (10), e1002298 (2011)
   PUBMED   21998595
  REMARK    Erratum:[PLoS Genet. 2011 Nov;7(11).
            doi:10.1371/annotation/58c67154-3f10-4155-9085-dcd6e3689008]
REFERENCE   3  (bases 1 to 818)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction Assessment
            with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (bases 1 to 818)
  AUTHORS   Kim JJ, Lee HI, Park T, Kim K, Lee JE, Cho NH, Shin C, Cho YS, Lee
            JY, Han BG, Yoo HW and Lee JK.
  TITLE     Identification of 15 loci influencing height in a Korean population
  JOURNAL   J Hum Genet 55 (1), 27-31 (2010)
   PUBMED   19893584
REFERENCE   5  (bases 1 to 818)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 818)
  AUTHORS   Brass AL, Dykxhoorn DM, Benita Y, Yan N, Engelman A, Xavier RJ,
            Lieberman J and Elledge SJ.
  TITLE     Identification of host proteins required for HIV infection through a
            functional genomic screen
  JOURNAL   Science 319 (5865), 921-926 (2008)
   PUBMED   18187620
REFERENCE   7  (bases 1 to 818)
  AUTHORS   Kazmierczak B, Borrmann L and Bullerdiek J.
  TITLE     Assignment of a new gene (LBH)
  JOURNAL   Genomics 56 (1), 136-137 (1999)
   PUBMED   10036196
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.469308.1, AK290164.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000476320.6/ ENSP00000417604.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK290164.1 and BU956518.1.
            On Nov 22, 2018 this sequence version replaced NM_001008703.3.
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..818
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..818
                     /gene="SMIM29"
                     /gene_synonym="C6orf1; LBH"
                     /note="small integral membrane protein 29"
                     /db_xref="GeneID:221491"
                     /db_xref="HGNC:HGNC:1340"
                     /db_xref="MIM:611419"
     misc_feature    72..74
                     /gene="SMIM29"
                     /gene_synonym="C6orf1; LBH"
                     /note="upstream in-frame stop codon"
     CDS             102..410
                     /gene="SMIM29"
                     /gene_synonym="C6orf1; LBH"
                     /note="isoform 1 is encoded by transcript variant 2;
                     uncharacterized protein C6orf1"
                     /codon_start=1
                     /product="small integral membrane protein 29 isoform 1"
                     /protein_id="NP_001008703.2"
                     /db_xref="CCDS:CCDS4790.2"
                     /db_xref="GeneID:221491"
                     /db_xref="HGNC:HGNC:1340"
                     /db_xref="MIM:611419"
                     /translation="MSNTTVPNAPQANSDSMVGYVLGPFFLITLVGVVVAVVMYVQKKK
                     RVDRLRHHLLPMYSYDPAEELHEAEQELLSDMGDPKVVHGWQSGYQHKRMPLLDVKT"
     misc_feature    108..110
                     /gene="SMIM29"
                     /gene_synonym="C6orf1; LBH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q86T20.3); glycosylation site"
     misc_feature    162..224
                     /gene="SMIM29"
                     /gene_synonym="C6orf1; LBH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86T20.3);
                     transmembrane region"
     regulatory      799..804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMIM29"
                     /gene_synonym="C6orf1; LBH"
                     /note="hexamer: AATAAA"
     polyA_site      818
                     /gene="SMIM29"
                     /gene_synonym="C6orf1; LBH"
                     /note="major polyA site"
ORIGIN
        1 gttcctgtcg gggctgcagc ggcgggaggg agcccagtgg aggcgccctc ccgaagcgcc
       61 actgcccatg ctgaccaccc agccctccgg ctgctgatgt catgagtaac accactgtgc
      121 ccaatgcccc ccaggccaac agcgactcca tggtgggcta tgtgttgggg cccttcttcc
      181 tcatcaccct ggtcggggtg gtggtggctg tggtaatgta tgtacagaag aaaaagcggg
      241 tggaccggct gcgccatcac ctgctcccca tgtacagcta tgacccagct gaggaactgc
      301 atgaggctga gcaggagctg ctctctgaca tgggagaccc caaggtggta catggctggc
      361 agagtggcta ccagcacaag cggatgccac tgctggatgt caagacgtga cctgaccccc
      421 ttgccccacc cttcagagcc tggggtcctg gactgcctgg ggccctgcca tctgcttccc
      481 ctgctgtcac ctggctcccc ctgctgggtg ctgggtctcc atttctccct ccacccaccc
      541 tcagcagcat ctgcttccca tgccctcacc atcacctcac tgcccccagg ccttctgccc
      601 tttgtgggtg ttgagctcac cgcccaccca caggcactca tgggaagagg ctttccttct
      661 gggatggggg cggctggtag acacctttgc tttctctagc cctcctgggc tgggcttggg
      721 cacaaatccc caggcaggct ttggagttgt ttccatggtg atggggccag atgtatagta
      781 ttcagtatat attttgtaaa taaaatgttt tgtggcta
//
LOCUS       NM_001008708            1309 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens ChaC glutathione specific
            gamma-glutamylcyclotransferase 2 (CHAC2), transcript variant 1,
            mRNA.
ACCESSION   NM_001008708
VERSION     NM_001008708.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1309)
  AUTHORS   Nguyen YTK, Park JS, Jang JY, Kim KR, Vo TTL, Kim KW and Han BW.
  TITLE     Structural and Functional Analyses of Human ChaC2 in Glutathione
            Metabolism
  JOURNAL   Biomolecules 10 (1), 31 (2019)
   PUBMED   31878259
  REMARK    GeneRIF: Structural and Functional Analyses of Human ChaC2 in
            Glutathione Metabolism. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1309)
  AUTHORS   Wang CK, Yang SC, Hsu SC, Chang FP, Lin YT, Chen SF, Cheng CL, Hsiao
            M, Lu FL and Lu J.
  TITLE     CHAC2 is essential for self-renewal and glutathione maintenance in
            human embryonic stem cells
  JOURNAL   Free Radic Biol Med 113, 439-451 (2017)
   PUBMED   29054545
  REMARK    GeneRIF: The data revealed that CHAC2 prevented CHAC1-mediated GSH
            degradation, which suggests that CHAC2 competes with CHAC1 to
            maintain GSH homeostasis.
REFERENCE   3  (bases 1 to 1309)
  AUTHORS   Liu S, Fei W, Shi Q, Li Q, Kuang Y, Wang C, He C and Hu X.
  TITLE     CHAC2, downregulated in gastric and colorectal cancers, acted as a
            tumor suppressor inducing apoptosis and autophagy through unfolded
            protein response
  JOURNAL   Cell Death Dis 8 (8), e3009 (2017)
   PUBMED   28837156
  REMARK    GeneRIF: Results showed for the first time that CHAC2 was degraded
            by the ubiquitin-proteasome pathway and CHAC2 expression inhibited
            tumor cell growth, proliferation, migration in vitro and in vivo.
            Mechanistic study showed that CHAC2 induced mitochondrial apoptosis
            and autophagy through unfolded protein response. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 1309)
  AUTHORS   Kaur A, Gautam R, Srivastava R, Chandel A, Kumar A, Karthikeyan S
            and Bachhawat AK.
  TITLE     ChaC2, an Enzyme for Slow Turnover of Cytosolic Glutathione
  JOURNAL   J Biol Chem 292 (2), 638-651 (2017)
   PUBMED   27913623
  REMARK    GeneRIF: Human and mouse ChaC2 proteins purified in vitro show
            10-20-fold lower catalytic efficiency than ChaC1, although they
            showed comparable Km values
REFERENCE   5  (bases 1 to 1309)
  AUTHORS   Kumar A, Tikoo S, Maity S, Sengupta S, Sengupta S, Kaur A and
            Bachhawat AK.
  TITLE     Mammalian proapoptotic factor ChaC1 and its homologues function as
            gamma-glutamyl cyclotransferases acting specifically on glutathione
  JOURNAL   EMBO Rep 13 (12), 1095-1101 (2012)
   PUBMED   23070364
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC053896.1, SRR1660803.42278.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000295304.5/ ENSP00000295304.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC019239.1 and BC053896.1.
            On Nov 23, 2018 this sequence version replaced NM_001008708.3.
            Summary: The protein encoded by this gene is a gamma-glutamyl
            cyclotransferase that catalyzes the conversion of glutathione to
            5-oxoproline and cysteinylglycine. It is thought that this gene is
            upregulated in response to endoplasmic reticulum stress and that
            the glutathione depletion enhances apoptosis. [provided by RefSeq,
            Sep 2016].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1309
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.2"
     gene            1..1309
                     /gene="CHAC2"
                     /gene_synonym="GCG1"
                     /note="ChaC glutathione specific
                     gamma-glutamylcyclotransferase 2"
                     /db_xref="GeneID:494143"
                     /db_xref="HGNC:HGNC:32363"
                     /db_xref="MIM:617446"
     misc_feature    45..47
                     /gene="CHAC2"
                     /gene_synonym="GCG1"
                     /note="upstream in-frame stop codon"
     CDS             84..638
                     /gene="CHAC2"
                     /gene_synonym="GCG1"
                     /EC_number="4.3.2.7"
                     /note="isoform 1 is encoded by transcript variant 1; cation
                     transport regulator-like protein 2; ChaC, cation transport
                     regulator-like 2; gamma-GCT acting on glutathione homolog
                     2; ChaC cation transport regulator homolog 2; gamma-GCG 2;
                     putative glutathione-specific
                     gamma-glutamylcyclotransferase 2"
                     /codon_start=1
                     /product="glutathione-specific
                     gamma-glutamylcyclotransferase 2 isoform 1"
                     /protein_id="NP_001008708.1"
                     /db_xref="CCDS:CCDS33196.1"
                     /db_xref="GeneID:494143"
                     /db_xref="HGNC:HGNC:32363"
                     /db_xref="MIM:617446"
                     /translation="MWVFGYGSLIWKVDFPYQDKLVGYITNYSRRFWQGSTDHRGVPGK
                     PGRVVTLVEDPAGCVWGVAYRLPVGKEEEVKAYLDFREKGGYRTTTVIFYPKDPTTKPF
                     SVLLYIGTCDNPDYLGPAPLEDIAEQIFNAAGPSGRNTEYLFELANSIRNLVPEEADEH
                     LFALEKLVKERLEGKQNLNCI"
     regulatory      1237..1242
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHAC2"
                     /gene_synonym="GCG1"
                     /note="hexamer: AATAAA"
     polyA_site      1263
                     /gene="CHAC2"
                     /gene_synonym="GCG1"
                     /note="major polyA site"
     regulatory      1277..1282
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHAC2"
                     /gene_synonym="GCG1"
                     /note="hexamer: CATAAA"
     regulatory      1287..1292
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHAC2"
                     /gene_synonym="GCG1"
                     /note="hexamer: ATTATA"
     polyA_site      1296
                     /gene="CHAC2"
                     /gene_synonym="GCG1"
     polyA_site      1309
                     /gene="CHAC2"
                     /gene_synonym="GCG1"
ORIGIN
        1 actcgcttac cggaggcttc agtccccggc ggcgcggcga cagctagggt tcacggccac
       61 tggggcagag gagccgcgag aagatgtggg tttttggtta cgggtccctg atctggaagg
      121 tggatttccc ctatcaggac aagctggtcg gatacatcac caactacagc aggcgcttct
      181 ggcagggcag cacggaccac cgcggggtcc ccggcaagcc tggaagagtt gtgactcttg
      241 ttgaagatcc tgcgggatgt gtatggggtg ttgcttacag attgccagta ggaaaggaag
      301 aagaagtaaa agcatacctt gacttcagag aaaaaggagg ctacagaacc acaacagtca
      361 ttttttatcc aaaagatccc acaacaaaac cattcagtgt attgctatat attggaacat
      421 gtgataatcc tgattatctt ggtcctgcac ctctggaaga cattgctgaa caaattttta
      481 atgcagctgg tccaagtgga agaaatacag aatatctttt tgaacttgca aattctatta
      541 ggaaccttgt gccagaagaa gcagatgagc atcttttcgc tttggaaaaa ttagtaaagg
      601 aacgtttaga agggaaacag aacctcaatt gcatataatt tagtcttcag agaattaact
      661 tcagtgcaca atgacaatat gatttggaaa tacgtttact taaagatctt atttttaatg
      721 tagtgaggat attatttaaa cttttatttt aactggaaat gtcctgaaac acatatttaa
      781 aatattggga tacagtgaaa gaaaaattca aattttaata acataaagat ttcctaactt
      841 tatgttattg aacacttact cactagaagt gagttcttta gaaaaataca gtgaaggact
      901 cagttcagtc ttgtttttat cagagtgata atcatcctgt ttcacatccc aatactattt
      961 tgaaattcta aacaattaaa ccaaaattcc aataaatata aggttatgcc ttcaatatat
     1021 tcctatacaa ttctgtaacc atggtttaaa atacacaagc ttaaaataac atgcttagaa
     1081 atacacaata atatgaacag tatttcagcc ttaattgtga atttccttgt tattcaagta
     1141 ttaaatgaaa tcttttgagt ttttagccaa aaattggcat ttttaaaata cgaaaatttc
     1201 cttggaatta taatgtactg tacctcttct tttttaaata aaggcatttt actatatgga
     1261 aaataactca ctaaagcata aattacatta tacaaatcat gatcactaa
//
LOCUS       NM_001008710            2874 bp    mRNA    linear   PRI 10-APR-2023
DEFINITION  Homo sapiens RNA binding protein, mRNA processing factor (RBPMS),
            transcript variant 1, mRNA.
ACCESSION   NM_001008710
VERSION     NM_001008710.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2874)
  AUTHORS   Bartsch D, Kalamkar K, Ahuja G, Lackmann JW, Hescheler J, Weber T,
            Bazzi H, Clamer M, Mendjan S, Papantonis A and Kurian L.
  TITLE     mRNA translational specialization by RBPMS presets the competence
            for cardiac commitment in hESCs
  JOURNAL   Sci Adv 9 (13), eade1792 (2023)
   PUBMED   36989351
  REMARK    GeneRIF: mRNA translational specialization by RBPMS presets the
            competence for cardiac commitment in hESCs.
REFERENCE   2  (bases 1 to 2874)
  AUTHORS   Li M, Hu M, Wang Y, Xia Z, Li Z, Li J, Zheng D, Zheng X and Xi M.
  TITLE     Loss of RBPMS in ovarian cancer compromises the efficacy of EGFR
            inhibitor gefitinib through activating HER2/AKT/mTOR/P70S6K
            signaling
  JOURNAL   Biochem Biophys Res Commun 637, 348-357 (2022)
   PUBMED   36423381
  REMARK    GeneRIF: Loss of RBPMS in ovarian cancer compromises the efficacy of
            EGFR inhibitor gefitinib through activating HER2/AKT/mTOR/P70S6K
            signaling.
REFERENCE   3  (bases 1 to 2874)
  AUTHORS   Rabelo-Fernandez RJ, Noriega Rivera RA, Rivera YS, Tous-Beveraggi J,
            Valiyeva F and Vivas-Mejia PE.
  TITLE     Increased Expression of the RBPMS Splice Variants Inhibits Cell
            Proliferation in Ovarian Cancer Cells
  JOURNAL   Int J Mol Sci 23 (23), 14742 (2022)
   PUBMED   36499073
  REMARK    GeneRIF: Increased Expression of the RBPMS Splice Variants Inhibits
            Cell Proliferation in Ovarian Cancer Cells. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 2874)
  AUTHORS   Rabelo-Fernandez RJ, Santiago-Sanchez GS, Sharma RK, Roche-Lima A,
            Carrion KC, Rivera RAN, Quinones-Diaz BI, Rajasekaran S, Siddiqui J,
            Miles W, Rivera YS, Valiyeva F and Vivas-Mejia PE.
  TITLE     Reduced RBPMS Levels Promote Cell Proliferation and Decrease
            Cisplatin Sensitivity in Ovarian Cancer Cells
  JOURNAL   Int J Mol Sci 23 (1), 535 (2022)
   PUBMED   35008958
  REMARK    GeneRIF: Reduced RBPMS Levels Promote Cell Proliferation and
            Decrease Cisplatin Sensitivity in Ovarian Cancer Cells. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 2874)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2874)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   7  (bases 1 to 2874)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   8  (bases 1 to 2874)
  AUTHORS   Sun Y, Ding L, Zhang H, Han J, Yang X, Yan J, Zhu Y, Li J, Song H
            and Ye Q.
  TITLE     Potentiation of Smad-mediated transcriptional activation by the
            RNA-binding protein RBPMS
  JOURNAL   Nucleic Acids Res 34 (21), 6314-6326 (2006)
   PUBMED   17099224
REFERENCE   9  (bases 1 to 2874)
  AUTHORS   Hillman RT, Green RE and Brenner SE.
  TITLE     An unappreciated role for RNA surveillance
  JOURNAL   Genome Biol 5 (2), R8 (2004)
   PUBMED   14759258
REFERENCE   10  (bases 1 to 2874)
  AUTHORS   Shimamoto A, Kitao S, Ichikawa K, Suzuki N, Yamabe Y, Imamura O,
            Tokutake Y, Satoh M, Matsumoto T, Kuromitsu J, Kataoka H, Sugawara
            K, Sugawara M, Sugimoto M, Goto M and Furuichi Y.
  TITLE     A unique human gene that spans over 230 kb in the human chromosome
            8p11-12 and codes multiple family proteins sharing RNA-binding
            motifs
  JOURNAL   Proc Natl Acad Sci U S A 93 (20), 10913-10917 (1996)
   PUBMED   8855282
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.54264.1,
            SRR1660809.128176.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000397323.9/ ENSP00000380486.4
            NMD candidate :: translation inferred from conservation
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CX165198.1, BC003608.2,
            D84107.1, CX781149.1, CN360712.1 and BX097929.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001008710.2.
            Summary: This gene encodes a member of the RNA recognition motif
            family of RNA-binding proteins. The RNA recognition motif is
            between 80-100 amino acids in length and family members contain one
            to four copies of the motif. The RNA recognition motif consists of
            two short stretches of conserved sequence, as well as a few highly
            conserved hydrophobic residues. The encoded protein has a single,
            putative RNA recognition motif in its N-terminus. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Jun 2013].
            Transcript Variant: This variant (1) encodes isoform A. Variants 1
            and 4 encode the same isoform.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2874
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p12"
     gene            1..2874
                     /gene="RBPMS"
                     /gene_synonym="HERMES"
                     /note="RNA binding protein, mRNA processing factor"
                     /db_xref="GeneID:11030"
                     /db_xref="HGNC:HGNC:19097"
                     /db_xref="MIM:601558"
     misc_feature    112..114
                     /gene="RBPMS"
                     /gene_synonym="HERMES"
                     /note="upstream in-frame stop codon"
     CDS             553..1143
                     /gene="RBPMS"
                     /gene_synonym="HERMES"
                     /note="isoform A is encoded by transcript variant 1; heart
                     and RRM expressed sequence; RNA binding protein with
                     multiple splicing"
                     /codon_start=1
                     /product="RNA-binding protein with multiple splicing
                     isoform A"
                     /protein_id="NP_001008710.1"
                     /db_xref="CCDS:CCDS6077.1"
                     /db_xref="GeneID:11030"
                     /db_xref="HGNC:HGNC:19097"
                     /db_xref="MIM:601558"
                     /translation="MNNGGKAEKENTPSEANLQEEEVRTLFVSGLPLDIKPRELYLLFR
                     PFKGYEGSLIKLTSKQPVGFVSFDSRSEAEAAKNALNGIRFDPEIPQTLRLEFAKANTK
                     MAKNKLVGTPNPSTPLPNTVPQFIAREPYELTVPALYPSSPEVWAPYPLYPAELAPALP
                     PPAFTYPASLHAQMRWLPPSEATSQGWKSRQFC"
     misc_feature    553..555
                     /gene="RBPMS"
                     /gene_synonym="HERMES"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q93062.1); acetylation site"
     misc_feature    586..588
                     /gene="RBPMS"
                     /gene_synonym="HERMES"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9WVB0; propagated from
                     UniProtKB/Swiss-Prot (Q93062.1); phosphorylation site"
     misc_feature    631..633
                     /gene="RBPMS"
                     /gene_synonym="HERMES"
                     /note="Interaction with RNA.
                     /evidence=ECO:0000269|PubMed:26347403; propagated from
                     UniProtKB/Swiss-Prot (Q93062.1); other site"
     misc_feature    733..735
                     /gene="RBPMS"
                     /gene_synonym="HERMES"
                     /note="Interaction with RNA.
                     /evidence=ECO:0000269|PubMed:26347403; propagated from
                     UniProtKB/Swiss-Prot (Q93062.1); other site"
     misc_feature    844..867
                     /gene="RBPMS"
                     /gene_synonym="HERMES"
                     /note="propagated from UniProtKB/Swiss-Prot (Q93062.1);
                     Region: Interaction with RNA.
                     /evidence=ECO:0000269|PubMed:26347403"
     misc_feature    889..891
                     /gene="RBPMS"
                     /gene_synonym="HERMES"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q93062.1); phosphorylation site"
     regulatory      1347..1352
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBPMS"
                     /gene_synonym="HERMES"
                     /note="hexamer: AATAAA"
     polyA_site      1376
                     /gene="RBPMS"
                     /gene_synonym="HERMES"
                     /note="major polyA site"
     regulatory      2850..2855
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBPMS"
                     /gene_synonym="HERMES"
                     /note="hexamer: AATAAA"
     polyA_site      2874
                     /gene="RBPMS"
                     /gene_synonym="HERMES"
                     /note="major polyA site"
ORIGIN
        1 agagcctgcc tggagcgcgt actcagcggc tctcgggtcc cagcgtccca gccgcggccc
       61 gcgctcctcc gccccgctcc tcctcctcct cttcctcctc ctcctcctct ctaggcaccc
      121 ccgtcccctc cttccagcgg ctgcagcccc cagccccaac tctccgcgct tactcctggg
      181 acgcgcgtcc tcgccccatc ctttgcttcc ttccttcctt ccttcttcct tcctcccctg
      241 gctcccgccc tccctctcca ggtcgccctc ccggggcccg attgtctcgg tgccccgctc
      301 ccggcccgcg ccctgccccg tctctccctt gcacttcctg agtcgcccgc cgccgccgtc
      361 gcagactcgc cgcgggagcc ccagcccaac ccgagcccga cagccactgc cccggctcca
      421 gctccagccc cacagcccgc ggcgcccgcc cgagggagcc ccggcgcccg gggaaggctc
      481 cagtgggcta gcgcgccctc gcccagcccc gcgccccagc cctgcccggc ccggcgagga
      541 aggaccggga agatgaacaa cggcggcaaa gccgagaagg agaacacccc gagcgaggcc
      601 aaccttcagg aggaggaggt ccggacccta tttgtcagtg gccttcctct ggatatcaaa
      661 cctcgggagc tctatctgct tttcagacca tttaagggct atgagggttc tcttataaag
      721 ctcacatcta aacagcctgt aggttttgtc agttttgaca gtcgctcaga agcagaggct
      781 gcaaagaatg ctttgaatgg catccgcttc gatcctgaaa ttccgcaaac actacgacta
      841 gagtttgcta aggcaaacac gaagatggcc aagaacaaac tcgtagggac tccaaacccc
      901 agtactcctc tgcccaacac tgtacctcag ttcattgcca gagagccata tgagctcaca
      961 gtgcctgcac tttaccccag tagccctgaa gtgtgggccc cgtaccctct gtacccagcg
     1021 gagttagcgc ctgctctacc tcctcctgct ttcacctatc ccgcttcact gcatgcccag
     1081 atgcgctggc tccctccctc cgaggctact tctcagggct ggaagtcccg tcagttctgc
     1141 tgaatactat gtcccaggtg tgtgatggcg gctgcaatct gtcttgtggg tattaatgca
     1201 atcttcagtg gtggctactg ttctctagct gttctacaaa actggagcat gctggcttga
     1261 aaaacccttg cccagttttg atcccttcaa gactttgtca cagcctctat cacacatctg
     1321 tttttctcga agaaaaaaat ataattaata aaaatgtttt actcttttac actgtataat
     1381 tgtaagaaat agcgtattat ttgtgaatgc atggtctgaa atttctgtac agtttggaga
     1441 tattttcaaa cgaaacgtaa gagaagtcaa caataaaacc aagaaaagtg agtattttta
     1501 taccaaacat tttaagtatg ctgggatgga cgatcttaca ctggtttgga tcacagtttt
     1561 tgttcttgac ttttgaatgc ttgtaattaa aaatatctat ttttttcctc tgaagtaagt
     1621 tgcatgtttg aggcatgttt ccaaatatta tcaaaatatc ctgaattgta ttgtgaatat
     1681 atagaaatct gtgcctggcc ggagtccagg gtaaattagt agcatggtgt tagatgttag
     1741 aaacagaact gttatttgca gtgttaggtc taggatccca gttctagtag gacagccctg
     1801 caagacaatc aaccagaagc ctccaggagc ttctacctat ggcttattca caactgggca
     1861 agaaaacatc attggtaaga actgctgagt gtgcccttag aaagccctag tagctccagc
     1921 tgtgactata tcaactgtgt gccaagtgtg actttgtaca gttttatgtt tccactctcc
     1981 tgtatgtgta gccactcgat gcctaaccta ccttccacaa gccagccccg catccctgct
     2041 cccgcagtgt aagtgcagag cctgcctcac tggtaaggga aaaccttggc ttgggaggcc
     2101 agccctggcc cttgaagggg ttggctgtgc ccagcccacc tggctgcagt gggcagctca
     2161 tgtctgtatc tccaaagtga tgtttgtttg caaaacaccg gctgaactga gctggtgttg
     2221 ccaactcttg gcagcactgg gccaaaccga ccacatacca tgagctccca aatggcgtgt
     2281 gctcactgtg agacgtcctg ccacacccca caggagacgg aggcagtggg catttggaac
     2341 caattctatt cagacttcgt caaagccaaa gtcagtctgg tgttgtcagt tgacacatct
     2401 ccagagttca tgacagctca acctctcccc ttgtacagaa gccatttttg taaaaccaca
     2461 ctgacctaaa ttcagctgcc aaacacagtc tttcctattg atccgctcgg cttatgttga
     2521 aaatttcaat gtcatgatta cctggttggt ttgggttttt gttttgttat tttccattag
     2581 aaatataaag atgtcaagaa gcttttaaag gtcaacacaa aaaaccaagg ccaggagtga
     2641 ggggctcttt cttaccgtaa ataaggggaa aaggcagtta gctcaaggac ttgtgacgga
     2701 tccactttgg tgttcaagga cctgcttatg ccctcagtgc caatcggctc ttggtgagat
     2761 gactgtactc ctaaggaaaa tagccacttc tgcagtctat tatgctttta taactgttta
     2821 aaggtacttt tctattgtca tttttaaaaa ataaagtgct tattccagct gtca
//
LOCUS       NM_001008723            3256 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens cilia and flagella associated protein 58 (CFAP58),
            transcript variant 1, mRNA.
ACCESSION   NM_001008723
VERSION     NM_001008723.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3256)
  AUTHORS   Sha Y, Sha Y, Liu W, Zhu X, Weng M, Zhang X, Wang Y and Zhou H.
  TITLE     Biallelic mutations of CFAP58 are associated with multiple
            morphological abnormalities of the sperm flagella
  JOURNAL   Clin Genet 99 (3), 443-448 (2021)
   PUBMED   33314088
  REMARK    GeneRIF: Biallelic mutations of CFAP58 are associated with multiple
            morphological abnormalities of the sperm flagella.
REFERENCE   2  (bases 1 to 3256)
  AUTHORS   He X, Liu C, Yang X, Lv M, Ni X, Li Q, Cheng H, Liu W, Tian S, Wu H,
            Gao Y, Yang C, Tan Q, Cong J, Tang D, Zhang J, Song B, Zhong Y, Li
            H, Zhi W, Mao X, Fu F, Ge L, Shen Q, Zhang M, Saiyin H, Jin L, Xu Y,
            Zhou P, Wei Z, Zhang F and Cao Y.
  TITLE     Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar
            Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia
            in Humans and Mice
  JOURNAL   Am J Hum Genet 107 (3), 514-526 (2020)
   PUBMED   32791035
  REMARK    GeneRIF: Bi-allelic Loss-of-function Variants in CFAP58 Cause
            Flagellar Axoneme and Mitochondrial Sheath Defects and
            Asthenoteratozoospermia in Humans and Mice.
REFERENCE   3  (bases 1 to 3256)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3256)
  AUTHORS   Liu Y, Kheradmand F, Davis CF, Scheurer ME, Wheeler D, Tsavachidis
            S, Armstrong G, Simpson C, Mandal D, Kupert E, Anderson M, You M,
            Xiong D, Pikielny C, Schwartz AG, Bailey-Wilson J, Gaba C, De
            Andrade M, Yang P, Pinney SM, Amos CI and Spitz MR.
  CONSRTM   Genetic Epidemiology of Lung Cancer Consortium
  TITLE     Focused Analysis of Exome Sequencing Data for Rare Germline
            Mutations in Familial and Sporadic Lung Cancer
  JOURNAL   J Thorac Oncol 11 (1), 52-61 (2016)
   PUBMED   26762739
  REMARK    GeneRIF: A heterozygous p.Arg696Cys variant in the coiled-coil
            domain containing 147 gene at 10q25.1 was associated with Lung
            Cancer.
REFERENCE   5  (bases 1 to 3256)
  AUTHORS   Pieragostino D, Agnifili L, Fasanella V, D'Aguanno S, Mastropasqua
            R, Di Ilio C, Sacchetta P, Urbani A and Del Boccio P.
  TITLE     Shotgun proteomics reveals specific modulated protein patterns in
            tears of patients with primary open angle glaucoma naive to therapy
  JOURNAL   Mol Biosyst 9 (6), 1108-1116 (2013)
   PUBMED   23580065
REFERENCE   6  (bases 1 to 3256)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage
            AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G,
            Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T,
            Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S,
            Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T,
            Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N,
            Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall
            M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL,
            Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm
            L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX641120.1, BC036225.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369704.8/ ENSP00000358718.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC036225.1 and AL355378.8.
            On Nov 22, 2018 this sequence version replaced NM_001008723.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3256
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.1"
     gene            1..3256
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /note="cilia and flagella associated protein 58"
                     /db_xref="GeneID:159686"
                     /db_xref="HGNC:HGNC:26676"
                     /db_xref="MIM:619129"
     CDS             66..2684
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 147; coiled-coil
                     domain containing 147"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 58 isoform
                     1"
                     /protein_id="NP_001008723.1"
                     /db_xref="CCDS:CCDS31282.1"
                     /db_xref="GeneID:159686"
                     /db_xref="HGNC:HGNC:26676"
                     /db_xref="MIM:619129"
                     /translation="MAEEKGGKQVLEESAFEEMERDFQGVLHELSGDKSLEKFRIEYER
                     LHAVMKKSYDNEKRLMAKCRELNAEIVVNSAKVATALKLSQDDQTTIASLKKEIEKAWK
                     MVDSAYDKEQKAKETILALKEEIVNLTKLVEQGSGLSMDQHSNIRDLLRFKEEVTKERD
                     QLLSEVVKLRESLAQTTEQQQETERSKEEAEHAISQFQQEIQQRQNEASREFRKKEKLE
                     KELKQIQADMDSRQTEIKALQQYVQKSKEELQKLEQQLKEQKILNERAAKELEQFQMRN
                     AKLQQENEQHSLVCEQLSQENQQKALELKAKEEEVHQMRLDIGKLNKIREQIHKKLHHT
                     EDQKAEVEQHKETLKNQIVGLEREVEASKKQAELDRKAMDELLRERDILNKNMLKAVNA
                     TQKQTDLVKLHEQAKRNLEGEIQNYKDEAQKQRKIIFHLEKERDRYINQASDLTQKVLM
                     NMEDIKVRETQIFDYRKKIAESEIKLKQQQNLYEAVRSDRNLYSKNLVEAQDEITDMKR
                     KLKIMIHQVDELKEDISAKESALVKLHLEQQRIEKEKETLKAELQKLRQQALETKHFIE
                     KQEAEERKLLRIIAEADGERLRQKKELDQVISERDILGSQLVRRNDELALLYEKIKIQQ
                     SVLNKGESQYNQRLEDMRILRLEIKKLRREKGILARSMANVEELRQEFFHMQRELLKER
                     TRCRALEEELENPLNVHRWRKLEASDPNAYELIQKIHTLQKRLISKTEEVVEKELLLQE
                     KEKLYMELKHVLARQPGPEAAEQLKLYRRTLHDKKQQLKVLSSELNMYEVQSKEYKYEV
                     EKLTNELQNLKKKYLAQKRKEQLQKNKDTAPMDNTFLMVKPNGPGFTGGGFPLRSTKMT
                     F"
     polyA_site      3030
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /note="major polyA site"
     regulatory      3233..3238
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
                     /note="hexamer: AATAAA"
     polyA_site      3256
                     /gene="CFAP58"
                     /gene_synonym="bA127L20.4; bA127L20.5; bA554P13.1;
                     C10orf80; CCDC147; SPGF49"
ORIGIN
        1 agactccggc ccagctcctg cgatctccac agcagcctct gaggccgccc ccagagagca
       61 tcaggatggc tgaggaaaag ggtggaaagc aagtcctgga agaatctgca tttgaagaaa
      121 tggaaagaga ttttcaggga gttctccatg aactttctgg agacaaaagt ttggaaaaat
      181 ttcggattga atatgagagg cttcatgctg tcatgaaaaa gtcttatgac aatgaaaagc
      241 gtctgatggc caaatgcaga gagctaaatg cagagattgt agtgaattct gcgaaggtcg
      301 ccactgccct taagctctct caggatgatc agaccaccat tgcatcccta aagaaggaaa
      361 ttgaaaaggc ctggaagatg gtggactcag cctatgacaa agagcagaag gccaaggaga
      421 cgattcttgc tctgaaagag gaaatagtga acctgaccaa actagtggag caggggtctg
      481 gactgtcaat ggaccagcat agcaacatcc gagatttact gaggttcaaa gaagaagtga
      541 caaaggagag agaccagctc ttatcagaag tggtaaaatt acgagaatcc ctagctcaga
      601 ccactgaaca gcagcaggaa acagagcgat caaaagagga ggctgaacat gccatcagtc
      661 agttccaaca agaaatccag caacgtcaga acgaagcttc ccgggagttc cggaagaagg
      721 aaaaactaga gaaagagctc aagcagattc aggcagacat ggacagcagg cagacagaaa
      781 taaaagccct gcagcagtat gtgcagaaga gcaaggagga gcttcagaag ctggagcagc
      841 agctgaagga gcagaagata ttgaatgaga gagctgcaaa ggaactcgag caatttcaga
      901 tgagaaatgc taaacttcag caagagaatg aacagcacag tttggtctgt gagcagctat
      961 cccaggaaaa ccaacagaag gcgttggagc tcaaagccaa agaggaagaa gtccatcaaa
     1021 tgcgccttga catcgggaag ctcaacaaaa tcagagaaca aattcataag aaattgcacc
     1081 acaccgaaga tcaaaaggca gaagtcgaac agcacaaaga aaccctaaaa aatcagattg
     1141 tgggattaga gagagaggta gaggcttcaa agaaacaagc agaacttgac agaaaggcaa
     1201 tggacgagct tctaagagaa agggacatac taaataagaa catgcttaag gcggtcaatg
     1261 cgacccagaa gcagacagac ttggtaaagc tccatgaaca agccaagagg aacctggagg
     1321 gagaaatcca gaactacaag gatgaggctc agaagcagag aaagatcatc tttcatctgg
     1381 aaaaggagcg tgaccggtac atcaaccaag ccagtgacct tacgcaaaag gtccttatga
     1441 acatggaaga cataaaagtt cgtgaaacac agatttttga ctacaggaaa aaaatagctg
     1501 aatcagagat taaattaaaa cagcaacaga acctatatga agctgtgaga tcagacagaa
     1561 atctgtatag caaaaatctg gttgaggctc aggatgaaat aacagatatg aagagaaagt
     1621 taaagattat gatccatcag gtagatgagc tgaaagaaga catctctgcc aaagagtccg
     1681 cacttgtgaa gctgcacctg gaacagcagc gaatagaaaa ggaaaaggaa acattgaagg
     1741 ctgagctgca gaagctgaga caacaagccc tggagacaaa acactttatt gaaaagcaag
     1801 aagctgaaga gagaaaactc ctgcgaataa ttgctgaggc tgacggggag aggttgagac
     1861 agaagaagga attagaccag gtcatcagtg agagagatat cctggggtct cagcttgttc
     1921 ggcgcaatga tgagttagct ttgctctatg agaagatcaa gatccaacag tctgtgctga
     1981 ataaagggga gagccagtac aaccagaggt tggaggacat gagaatcctc agacttgaga
     2041 tcaagaagct tcgccgggaa aaggggattc ttgccaggag tatggctaat gttgaagaac
     2101 tcagacagga gttttttcac atgcaaagag aattgttgaa ggagaggaca cgctgccgag
     2161 ccctggagga ggagctggag aatcccctga atgtgcacag atggaggaag ctcgaggcca
     2221 gcgaccccaa tgcatatgag ctgatacaga aaattcacac cctgcagaag cgtctcatca
     2281 gcaagactga agaggtggtt gaaaaagagc tgctcctcca ggaaaaggag aaactctaca
     2341 tggaactaaa gcacgtcttg gcccgccagc ctggacctga ggctgcggaa cagctgaagc
     2401 tgtaccgacg cacgctgcat gacaagaagc agcagctgaa agttttgtct tcagaattga
     2461 atatgtatga agtacagagc aaagaatata aatatgaggt agagaaactt accaatgagc
     2521 tccagaattt aaagaagaaa tacctcgctc agaaacgtaa agaacaactt caaaaaaaca
     2581 aggacacagc acccatggat aacaccttct taatggtcaa accaaatggt cctggtttta
     2641 ctgggggcgg atttcctctc aggtcaacca aaatgacgtt ctaacctgaa gctgctggct
     2701 gtttccagtt gaacaactca tgaaatctgc tctgggacat tttgggggaa tctcaaagtc
     2761 cttggatcat agaactgagt gctgagaatc caggatggaa agaaatgcag aactatcata
     2821 gtcacataca tataagaggg atggtgtttt gtctggttca cgttgatatt aacagatcat
     2881 aattctctct gttcagttag gctgacctat tgcatgaagc aaatcttttg ttgctacccc
     2941 attgattgaa atgtactaga ccttaatttc tttattacag acattggtgt acttgaaggt
     3001 tttatattta aaagtatttt tgaaatgcaa tgtgtcccct ctcaccttat taacaataat
     3061 ctattttaat tattcctcat taacaagtca ttgcatgaga tgagaaagaa ggacaaactc
     3121 ttaagaattt aaaaagtgtt ttgagaatga tttctatatg gaatttcttt tcaggcccgg
     3181 aatgggaaaa tctattccaa agagacacac taataaatac ttcattataa aaaataaaaa
     3241 agaatctttg tagaga
//
LOCUS       NM_001008727            6987 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 121 (ZNF121), transcript variant 2,
            mRNA.
ACCESSION   NM_001008727
VERSION     NM_001008727.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6987)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 6987)
  AUTHORS   Liu W, Ma W, Yuan Y, Zhang Y and Sun S.
  TITLE     Circular RNA hsa_circRNA_103809 promotes lung cancer progression via
            facilitating ZNF121-dependent MYC expression by sequestering
            miR-4302
  JOURNAL   Biochem Biophys Res Commun 500 (4), 846-851 (2018)
   PUBMED   29698681
  REMARK    GeneRIF: Circular RNA hsa_circRNA_103809 promotes lung cancer
            progression via facilitating ZNF121-dependent MYC expression by
            sequestering miR-4302.
REFERENCE   3  (bases 1 to 6987)
  AUTHORS   Luo A, Zhang X, Fu L, Zhu Z and Dong JT.
  TITLE     Zinc finger factor ZNF121 is a MYC-interacting protein functionally
            affecting MYC and cell proliferation in epithelial cells
  JOURNAL   J Genet Genomics 43 (12), 677-685 (2016)
   PUBMED   27988300
  REMARK    GeneRIF: ZNF121 as a MYC-interacting protein with functional effects
            on MYC and cell proliferation
REFERENCE   4  (bases 1 to 6987)
  AUTHORS   Ohira M, Morohashi A, Inuzuka H, Shishikura T, Kawamoto T, Kageyama
            H, Nakamura Y, Isogai E, Takayasu H, Sakiyama S, Suzuki Y, Sugano S,
            Goto T, Sato S and Nakagawara A.
  TITLE     Expression profiling and characterization of 4200 genes cloned from
            primary neuroblastomas: identification of 305 genes differentially
            expressed between favorable and unfavorable subsets
  JOURNAL   Oncogene 22 (35), 5525-5536 (2003)
   PUBMED   12934113
REFERENCE   5  (bases 1 to 6987)
  AUTHORS   Chen H, Kalaitsidaki M, Warren AC, Avramopoulos D and Antonarakis
            SE.
  TITLE     A novel zinc finger cDNA with a polymorphic pentanucleotide repeat
            (ATTTT)n maps on human chromosome 19p
  JOURNAL   Genomics 15 (3), 621-625 (1993)
   PUBMED   8468057
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.15012.1,
            SRR14038197.1734033.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144333,
            SAMEA2467150 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000320451.7/ ENSP00000326967.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AU253046.1, AC008759.9 and AC008567.5.
            On May 20, 2020 this sequence version replaced NM_001008727.4.
            Transcript Variant: This variant (2) differs in the 5' UTR and
            lacks an exon in the 5' coding region resulting in use of an
            alternate start codon compared to variant 1. Variants 1 and 2
            encode the same protein sequence.
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..6987
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..6987
                     /gene="ZNF121"
                     /gene_synonym="D19S204; ZHC32; ZNF20"
                     /note="zinc finger protein 121"
                     /db_xref="GeneID:7675"
                     /db_xref="HGNC:HGNC:12904"
                     /db_xref="MIM:194628"
     misc_feature    96..98
                     /gene="ZNF121"
                     /gene_synonym="D19S204; ZHC32; ZNF20"
                     /note="upstream in-frame stop codon"
     CDS             204..1376
                     /gene="ZNF121"
                     /gene_synonym="D19S204; ZHC32; ZNF20"
                     /note="zinc finger protein 121 (clone ZHC32); zinc finger
                     protein 20"
                     /codon_start=1
                     /product="zinc finger protein 121"
                     /protein_id="NP_001008727.1"
                     /db_xref="CCDS:CCDS32902.1"
                     /db_xref="GeneID:7675"
                     /db_xref="HGNC:HGNC:12904"
                     /db_xref="MIM:194628"
                     /translation="MAEIHNGGELCDFMENGEIFSEHSCLNAHMGTENTGDTYDCDEYG
                     ENFPMLHNSAPAGETLSVLNQCRKAFSLPPNVHQRTWIGDKSFEYSDCEEAFVDQSHLQ
                     ANRITHNGETLYEQKQCGRAFTYSTSHAVSVKMHTVEKPYECKECGKFFRYSSYLNSHM
                     RTHTGEKPYECKECGKCFTVSSHLVEHVRIHTGEKPYQCKECGRAFAGRSGLTKHVRIH
                     TGEKPYECNECGKAYNRFYLLTEHFKTHTEEKPFECKVCGKSFRSSSCLKNHFRIHTGI
                     KPYKCKECGKAFTVSSSLHNHVKIHTGEKPYECKDCGKAFATSSQLIEHIRTHTGEKPY
                     ICKECGKTFRASSHLQKHVRIHTGEKPYICNECGKAYNRFYLLTKHLKTH"
     regulatory      6966..6971
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF121"
                     /gene_synonym="D19S204; ZHC32; ZNF20"
                     /note="hexamer: AATAAA"
     polyA_site      6987
                     /gene="ZNF121"
                     /gene_synonym="D19S204; ZHC32; ZNF20"
                     /note="major polyA site"
ORIGIN
        1 agtgccattt cgcctttatc gtggtggagt ccaccctggc tgtggaccta ttcaaactca
       61 gtctgtctct tgactggagg aggagaagga aaagttgagc acattgccaa ccggagttcc
      121 ccaagaatgg caagttaaaa ccaaagtgtc agcacctcaa caacattttt ttttggctta
      181 acaaaacatc aaacggcata caaatggcag aaatccacaa tggaggggaa ctctgtgact
      241 ttatggaaaa tggagaaatc ttcagtgaac actcatgcct taatgcacac atgggaactg
      301 aaaatacagg ggacacttat gactgtgatg agtatggaga aaactttccc atgttacaca
      361 acagtgcccc tgctggagag acactttctg tgttgaatca gtgcagaaaa gccttcagcc
      421 tgccaccaaa tgttcaccag agaacgtgga taggagacaa atcctttgaa tacagtgact
      481 gtgaggaagc ctttgttgat cagtcacatc ttcaggcaaa taggataact cacaatggag
      541 aaacactcta tgaacagaag caatgtggga gagcttttac ttactccaca agccatgctg
      601 tgtctgttaa aatgcatact gtagaaaaac cctacgaatg taaggaatgt ggaaaattct
      661 ttagatattc ttcatatctt aatagtcaca tgcgaaccca tactggggag aaaccctatg
      721 aatgtaagga atgtgggaaa tgcttcactg tttcttcaca cctagttgaa catgtaagaa
      781 ttcatactgg agagaaacct tatcaatgta aggaatgtgg aagagccttc gctgggcgct
      841 caggccttac taaacatgta cgaatacaca ctggagagaa gccctatgaa tgtaacgaat
      901 gtgggaaagc ctacaatagg ttttatctac taactgaaca ttttaaaact cacacagagg
      961 agaagccctt tgaatgtaag gtatgtggaa aatccttcag aagctcttca tgccttaaga
     1021 atcactttag aattcacact ggaataaaac cctataaatg taaggagtgt gggaaagcat
     1081 tcactgtttc ctcaagctta cataatcatg taaaaatcca tactggagag aagccctatg
     1141 aatgtaagga ctgtgggaaa gcctttgcta catcttcaca actcattgaa catataagaa
     1201 ctcacactgg agagaaaccg tatatatgta aggaatgtgg gaaaaccttc cgtgcttctt
     1261 cacatctaca gaaacatgtt agaattcaca ctggagagaa accctatata tgtaacgaat
     1321 gtgggaaagc ctacaataga ttttatttac ttactaaaca tttaaaaaca cactgaagaa
     1381 aaactctgaa tgtaaggaat gtggaaatct tttaggaatt tctcatacca taattaccac
     1441 atttgaattc acactgaaga gaaattttat tggtacaaag aatgtgagga ggccttcagt
     1501 tatccccatt cacttcgaag acatgaaaga actcatactc tatgtgtccc ctataaattt
     1561 taggaatgtt agggagccaa tggaatcttt ttttattatt ttattttatt ttattttatt
     1621 ttattttatt ttattttatt ttatttgaga cagagttttg ctgttgtcat cacacaggct
     1681 ggagtgcaat ggcatgatcc cagctcactg caacctttgt ctcctgggtt caggcgattc
     1741 tgcctcagcc ttcaagtagc ttggattaca ggtgccgtca accacaccca gctaattttt
     1801 gtatttttag tagagatggg gtttcaccat gttggccagg ctggtctcga gctcctgacc
     1861 tcaggtgatc cacccgcctt ggcctcccaa agtgctggga ttataggagt gagccactgc
     1921 tcctggcctt tttttttttt tttttttttt tttttttttt ttgtaagtcg ttgttaatac
     1981 acattctttt ctcaagggat tggattgtgg tcacaatcca acatttgaga actcaccatg
     2041 gggccataca atgtagaaaa cacagaaagc cctcattatt tccttaggcc tttctaagta
     2101 tataagatgt tgcaatggag aagagaaacc ctattgatac aagatacagg catgccctgt
     2161 agatattgtg agttttgttc cagactacca ctataaagtg aatatcacaa taacatgaat
     2221 catacaaatg ttttggtttc ccagtgcata taagttaggt ttacatcata tggtagtctc
     2281 ttgtgtgcag ttgtgttatg tctaagtaaa gtaccttagt ttaaaatact ttattgccaa
     2341 aaagtgctaa tgatcatgtg agactttggt gagttgtaat ctttttgctt gtggtaggtc
     2401 ttgcctcagt gttgatggct gttgatcagg gtggctgtgg cagtttctta aaataagaca
     2461 gcagtgaaga ttgctgcatt gattgactct tcattacatg aaaaacttct ctttagcatt
     2521 cgacgctgtt tgataacatt ttacgcatag tggaacttct tttagaattg gacttaatcc
     2581 tctcaaactt cgccactgct tgatcaacta agttgatgta atattctaag tctgttgtct
     2641 tttcaacaat gttcacagca tcttcaggag tagatttcat ttcaggaaac cactttcttt
     2701 gcttatctat acaaagcagc ctctcatctg ttcaagtttt ttcacgagat tgaaacaatt
     2761 ctgtcacatc ttcaggctcc acttctaatt ctagttctct tttttccatc acatccacag
     2821 ttactttttc cactgaagac ttgaacccct cagagtcacc tatgaaggtt ggaatcaact
     2881 tcttccaaac tctggttaat gttggttttt atttttttaa ttaaaaaaat tttttttaga
     2941 gacaaggtct cgctgtgttg ttcatgctgg agtacaagtg ggtattcacc agcacgatga
     3001 gagcacactg tagccttgaa ctcctggcct caagtgatcc tccttcctat gcctcctgag
     3061 tagccaagac tccaggcaca caccaccaca cctgccttaa tgttgatatt ttgacctcct
     3121 tccatgaatc ataaatgttg ttaatggcat ctagaatgga gaatcctttc tgcaaggtct
     3181 gcaacttaat ttatccagat ccctcagaag aagcattatt agtggcagct atagccttat
     3241 gaaatgtatt tcttaaataa taagacttga aagtcagaat tattccagaa tccatgggct
     3301 gcggttagca gacatgaaaa cgccaatctt gtttatacct ccataagagc tcttggttag
     3361 taggttcatt atcagtggta atattttgaa aggaatctct gaacagtatg ttttacagtg
     3421 ggcttaaaat attcagtaaa ccatgctgta aatagatgta aatagatacc acaggaagag
     3481 tagatgtagc ataattctta actggctctt ggatttttgg aatggtaatt gaatattagc
     3541 attcatttaa agtcaccaac tgcattgacc tctaacaaga aagccagccc aggctgggaa
     3601 aagtggctta cacctgtaat tccagtgctt tgggaggctg aggttggagg atcacttgag
     3661 gtcaagagtt caagaccagc cagcacaaca gagcgtgacg ctgtctctac aaagtaaaga
     3721 gtcagcccgt cctttgaatc tttgaagtca gatattagct tacctagagc tgtgaaagtc
     3781 ctaaatggca tctcctgaag taaggctgtt ttgtctctgt taaaactcta gtagagctac
     3841 ctctgccatt tatctagata ttctggaaat gcttgctgca gattccacat cagcaattgc
     3901 tacttcactt tgtactttta tgttatggaa atgacttgtt aaacctcacg aactgatctt
     3961 tgccagcttc cagcatttct tctgcagcta actcacctct cagccttcat agaattagag
     4021 ttagggcctt gctctggatt aggttttggc ttaagggaat gttgtggctg gtctgatctt
     4081 ctatccagac cactaaaact tattccgtgt tagtggtgag gctgttttcc tttcttatta
     4141 tgtgtgtgtt cactggagta gcacttttag tttccttcaa gaactttaca ttcacaactt
     4201 ggctaactgg cacaagaggc ctagattttg gcctatccca gttttttttt tttttttttt
     4261 tttgagacat ggtctccctt ttgcccaggc tggagtgtag tacagttata gcccattgca
     4321 gcctcaaact tacgggttcc agtgatcttc ctgtctcctg agtagctaaa gactgcaggt
     4381 gtgcaccacc atggccagct aatttttttt tttttttttt ttttttttta aagaggcagg
     4441 actttactgt ttacccggct gatcttgaac ttaaaacctc aagtgatgct cccctatctg
     4501 cctcccaaca ctctgggatt acaggtgtga gccactgcac ctggctctta tcttggcttt
     4561 tgacatgact ttctcactga ggttaatcat ttccagcttt tgatctaaag tgagaaattt
     4621 gcaactcctt ctttcacttg aacagttaga ggccattgtg gggtaatgaa ttggcctaat
     4681 ttcaatattg tccctcaggg aattaggagg cctgggaaga ggaggagaga ggggagagtg
     4741 gccagttggt ggagcagtga gaacatagca tttgttaagt ttgctgtctt cgaaggttgt
     4801 ggtttgtggt accccaaaac aattaaaata ggaacatcaa agatcacaga gcagccgggc
     4861 acggtggctc acacctgtaa tcccagcacc ttgagaggct gaggtgagtg aatcatgagg
     4921 tcaggagttc gagaccagcc tggccaccat ggtgaaaccc cgtctctact aaaaatacaa
     4981 aaaattagcc gggcatggtg gcaggcacct atagtcccag ctattcagga ggctgaggca
     5041 ggagaatcac ttgaatccag gaggtggagg ttagagtgag ctgagatcac accactgcac
     5101 tccagcccag gtgacagagt gagattcctt ctcaaaaaaa aaaaaaaaaa aaaatcacac
     5161 agcaccacag taagtataat aataaggaaa atgtttgaaa tattgtcaga attgtcagga
     5221 tgtgagagac aaagtaagca catgctgttg gaaaaaatgg tgttatagat ttattcgaca
     5281 tgacattgcc acaggacttc tacttgtgaa aaatatctgt aaagtgagat gaagcaaagt
     5341 gaagtaacat gaggtatgtc tgtagctgtt gctgtagtgg tttccaaatg gtggttttct
     5401 tttccttttt tttttttttc tttttggtct gcattggggt cttgctctgt tgcctagggt
     5461 gtggagtgcg gtggcatgat catgcctcac tatagccttg acctcctggg ctcaagcgat
     5521 cctcccacct gagtctcctg agtacctggg accacaggca catgctaacg cacccactta
     5581 atttttttat tcgtagagcc gaggtctcac tatgttgccc agactggtct caagctcttg
     5641 ggctcaagca gtcctcctgc ctcagcctcc caaagtgcca ggattacagg tgtgagccac
     5701 cacacccagt ccaaaaagtg attttctaat tccatagttt cttctacatt tcttaactgg
     5761 aattttgtaa ggaagagtta tccttattca tttatttacc catttacttg taggagcatg
     5821 tatcataaat tcttaatcta tggggtgtag ttagctactg taaatttgat gcacatattt
     5881 ttccagattc aataagtagg atccccatca agctatcttc tgaatcttta aaaatgtatt
     5941 ctccttattt catgggtata taattatttt ctgggcaaca gtttgttcat ggtacatttg
     6001 tctccagccc tagactcaga aaaatgtaat ttattttaat ggagaatact atttagaagc
     6061 tgcagtctct gtgtagggag gtgttcctag gtaatagtgc cctggctttt aggtcttctc
     6121 tatggaggat atggcaaaga catacaaaat tatatatacg tatccacaca ttaataactc
     6181 tatttctata ttaaaaacat gaccacaagc caacactttt aattccactg cagcactgct
     6241 gggttatttc ttgctttcca aattcccttg tctgtagcta tctttcatca cttgcaaaaa
     6301 tagcacgtgc tcaatcctag attaaaatat aagctactct cagaattgat aactcatacc
     6361 actcttttta aaaatcaact aaccagaatt cagtttttat tcacagttct tatctttagc
     6421 tcagggcgta atataaaagc actaggttta aaacttactt ggtcagcagc aatccacttc
     6481 taggtacatg tccaaaggaa ctgaagaaag catctcaatg tgtgaatgcc tacctgtgtt
     6541 cattgcagca ttattcagaa gagccaagag gtggaagcaa agtaaatgtc cattgacaga
     6601 tgaattggta aacaaaatgc attatataca tacaatgcaa tatcatttag ccttaaaaac
     6661 aaaattctgc catatgctac aacatggacg ttatgctaag tgaaataaac cagttccgaa
     6721 aggacaaata cacccatttc cacttatatg gggtatctaa cgtcaaactc agaagaacaa
     6781 agtactgcgg tatttgccac aagctggtgg aggagaaaat gagttgttca atgggtattg
     6841 agtgtcagcc acgcaagatg gaaaagcttt ttgagatttg ttgtataaaa atatgcctat
     6901 agttaacaat actcttcggt acacacaaag tatgtgaaag ggtaaatttt atgtgttttt
     6961 atcacaataa aaattgtaat aaaagaa
//
LOCUS       NM_001008739             557 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens chromosome 6 open reading frame 226 (C6orf226), mRNA.
ACCESSION   NM_001008739
VERSION     NM_001008739.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 557)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 557)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 557)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC094854.1, BQ671656.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000408925.4/ ENSP00000386146.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL035587.5 and BC051007.1.
            On Nov 23, 2018 this sequence version replaced NM_001008739.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..557
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..557
                     /gene="C6orf226"
                     /note="chromosome 6 open reading frame 226"
                     /db_xref="GeneID:441150"
                     /db_xref="HGNC:HGNC:34431"
     CDS             34..339
                     /gene="C6orf226"
                     /codon_start=1
                     /product="uncharacterized protein C6orf226"
                     /protein_id="NP_001008739.1"
                     /db_xref="CCDS:CCDS43463.1"
                     /db_xref="GeneID:441150"
                     /db_xref="HGNC:HGNC:34431"
                     /translation="MERPRSPQCSAPASASASVTLAQLLQLVQQGQELPGLEKRHIAAI
                     HGEPTASRLPRRPKPWEAAALAESLPPPTLRIGTAPAEPGLVEAATAPSSWHTVGP"
     regulatory      536..541
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6orf226"
                     /note="hexamer: AATAAA"
     polyA_site      557
                     /gene="C6orf226"
                     /note="major polyA site"
ORIGIN
        1 gcattacacg ccggtcagga ttcgcgaccc gacatggagc gtccccgcag tccccaatgc
       61 tcggccccgg cctctgcctc agcttcggtt accctggcgc agctcctgca gctggtccag
      121 cagggccagg aactcccggg cctggagaaa cgccacatcg cggcgatcca cggcgaaccc
      181 acagcgtccc ggctgccgcg gaggcccaag ccctgggagg ccgcggcttt ggctgagtcc
      241 cttccccctc cgaccctcag gataggaacg gccccggcgg agcctggctt ggttgaggca
      301 gcgactgcgc cttcttcatg gcatacagtg ggcccctgag gttccaggtc ctttgcggcg
      361 gcgatctgga gggcgtggct acaggacccg ggatgccatt cagttactca tcttttatgc
      421 tttcgtcctg acctgtctca actagacttg ctcctgcaac caccatgggg gttttgcatt
      481 tacatttgtg gaccatgtta cagttaagaa aaatcctgtt tcagtcctta tatgtaataa
      541 aatgttttat gatgtaa
//
LOCUS       NM_001008740             696 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens transmembrane and coiled-coil domains 2 (TMCO2), mRNA.
ACCESSION   NM_001008740
VERSION     NM_001008740.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 696)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 696)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX416836.2, HM005658.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000372766.4/ ENSP00000361852.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BU567634.1 and BC108666.1.
            On Nov 22, 2018 this sequence version replaced NM_001008740.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..696
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..696
                     /gene="TMCO2"
                     /gene_synonym="dJ39G22.2"
                     /note="transmembrane and coiled-coil domains 2"
                     /db_xref="GeneID:127391"
                     /db_xref="HGNC:HGNC:23312"
     misc_feature    31..33
                     /gene="TMCO2"
                     /gene_synonym="dJ39G22.2"
                     /note="upstream in-frame stop codon"
     CDS             58..606
                     /gene="TMCO2"
                     /gene_synonym="dJ39G22.2"
                     /note="testis tissue sperm-binding protein Li 35a"
                     /codon_start=1
                     /product="transmembrane and coiled-coil domain-containing
                     protein 2"
                     /protein_id="NP_001008740.1"
                     /db_xref="CCDS:CCDS30684.1"
                     /db_xref="GeneID:127391"
                     /db_xref="HGNC:HGNC:23312"
                     /translation="MSTSSSSSWDNLLESLSLSTVWNWIQASFLGETSAPQQTSLGLLD
                     NLAPAVQIILRISFLILLGIGIYALWKRSIQSIQKTLLFVITLYKLYKKGSHIFEALLA
                     NPEGSGLRIQDNNNLFLSLGLQEKILKKLKTVENKMKNLEGIIVAQKPATKRDCSSEPY
                     CSCSDCQSPLSTSGFTSPI"
     misc_feature    208..270
                     /gene="TMCO2"
                     /gene_synonym="dJ39G22.2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6W1.1);
                     transmembrane region"
     regulatory      671..676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMCO2"
                     /gene_synonym="dJ39G22.2"
                     /note="hexamer: AATAAA"
     polyA_site      696
                     /gene="TMCO2"
                     /gene_synonym="dJ39G22.2"
                     /note="major polyA site"
ORIGIN
        1 atatttagat tcctgaagct tctgcacatg tagttcctag agctgctgct tattaaaatg
       61 tcaacatctt catcttctag ctgggacaac ctcttagagt ctctctctct cagcacagta
      121 tggaattgga tacaagcaag ttttttggga gagactagtg cacctcagca aacaagtttg
      181 ggactattag ataatcttgc tccagctgtg caaatcatct tgaggatttc tttcttgatt
      241 ttattgggaa taggaatata tgccttatgg aaacgaagta ttcagtcaat tcagaaaaca
      301 ttgttgtttg taatcacact ctacaaactt tacaagaagg gctcacatat ttttgaggct
      361 ttgctagcca acccagaagg aagtggtctc cgaattcaag acaataataa tcttttcctg
      421 tccttgggtc tgcaagagaa aattttgaaa aaacttaaga cagtggaaaa caaaatgaag
      481 aacctagaag ggataatcgt tgctcaaaaa cctgccacga agagggattg ctcctctgag
      541 ccctactgca gctgctctga ctgccagagt cccttgtcca catcagggtt tacttccccc
      601 atttgaaatg tgatggactc caatcttttc caggaaagca ctgtttccct catgtgtgca
      661 gtggtgtatc aataaagata gagaacgcta ttgaaa
//
LOCUS       NM_001008747            2587 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens CTAGE family member 15 (CTAGE15), mRNA.
ACCESSION   NM_001008747
VERSION     NM_001008747.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2587)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC146818.1, BC030655.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000420911.2/ ENSP00000474204.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073264.5.
            On Dec 17, 2012 this sequence version replaced NM_001008747.1.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2587
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q35"
     gene            1..2587
                     /gene="CTAGE15"
                     /gene_synonym="cTAGE-15; CTAGE15P"
                     /note="CTAGE family member 15"
                     /db_xref="GeneID:441294"
                     /db_xref="HGNC:HGNC:37295"
     CDS             18..2351
                     /gene="CTAGE15"
                     /gene_synonym="cTAGE-15; CTAGE15P"
                     /note="CTAGE family, member 15, pseudogene; protein
                     cTAGE-15"
                     /codon_start=1
                     /product="cTAGE family member 15"
                     /protein_id="NP_001008747.1"
                     /db_xref="CCDS:CCDS64788.1"
                     /db_xref="GeneID:441294"
                     /db_xref="HGNC:HGNC:37295"
                     /translation="MEEPGATPQPYLGLVLEELRRVVAALPESMRPDENPYGFPSELVV
                     CAAVIGFFVVLLFLWRSFRSVRSRLYVGREQKLGATLSGLIEEKCKLLEKFSLIQKEYE
                     GYEVESSLEDASFEKAAAEEARSLEATCEKLNRSNSELEDEILCLEKDLKEEKSKHSQQ
                     DELMADISKSIQSLEDESKSLKSQIAEAKIICKTFKMSEERRAIAIKDALNENSQLQTS
                     HKQLFQQEAEVWKGQVSELNKQKITFEDSKVHAEQVLNDKENHIKTLTGHLPMMKDQAA
                     VLEEDTTDDDNLELEVNSQWENGANLDDPLKGALKKLIHAAKLNVSLKSLEGERNHIII
                     QLSEVDKTKEELTEHIKNLQTQQASLQSENIYFESENQKLQQKLKIMTEFYQENEMKLY
                     RKLTVEENYRIEEEEKLSRVEEKLSRATEQLETYRKLAKDLEEELERTVHFYQKQVISY
                     EKRGHDNWLAARTAERNLSDLRKENAHNKQKLTETELKFELLEKDPNALDVSNTAFGRE
                     HAPNGPAPLGQRSSETRAFLSPQTLLEDPLGLSPVLPEGGGRGPRGPGNPLDHQITNER
                     GEPSCDRLTDPHRAPSDTGSLSSPVEQDCKMMFPPPGQSYPDSALPPQREDRFYSNSER
                     LSGSAEPRSFKMTSLDKMDGSMPSEMESSRNDAKDDLGNLNVPDSSLPAENEATGPGFI
                     PPPLAPVRGPLFPVDTRGPFMRRGPPFPPPPPGTMFGASRGYFPPRDFPGPPHAPFAMR
                     NIYPPRGLPPYFHPRPGFYPNPAF"
     misc_feature    132..194
                     /gene="CTAGE15"
                     /gene_synonym="cTAGE-15; CTAGE15P"
                     /note="propagated from UniProtKB/Swiss-Prot (A4D2H0.1);
                     transmembrane region"
     misc_feature    1638..2030
                     /gene="CTAGE15"
                     /gene_synonym="cTAGE-15; CTAGE15P"
                     /note="propagated from UniProtKB/Swiss-Prot (A4D2H0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2178..2243
                     /gene="CTAGE15"
                     /gene_synonym="cTAGE-15; CTAGE15P"
                     /note="propagated from UniProtKB/Swiss-Prot (A4D2H0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2565..2570
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTAGE15"
                     /gene_synonym="cTAGE-15; CTAGE15P"
                     /note="hexamer: AATAAA"
     polyA_site      2587
                     /gene="CTAGE15"
                     /gene_synonym="cTAGE-15; CTAGE15P"
                     /note="major polyA site"
ORIGIN
        1 agagcagcct cgacgctatg gaggagcccg gtgctacccc tcagccctac ctggggctgg
       61 tcctggagga gctacgcaga gttgtggcag cactacctga gagtatgaga ccagatgaga
      121 atccttatgg ttttccatcg gaactggtgg tatgtgcagc tgttattgga ttttttgttg
      181 ttctcctttt tttgtggaga agttttagat cggttaggag tcggctttac gtgggaagag
      241 agcaaaaact tggtgcaacg ctttctggac taattgaaga aaaatgtaaa ctacttgaaa
      301 agtttagcct tattcaaaaa gagtatgaag gctatgaagt agagtcatct ttagaggatg
      361 ccagctttga gaaggcggca gcagaagaag cacgaagttt ggaggcaacc tgtgaaaagc
      421 tgaacaggtc caattctgaa cttgaggatg aaatcctctg tctagaaaaa gacttaaaag
      481 aagagaaatc taaacattct caacaagatg aattgatggc ggatatttca aaaagtatac
      541 agtctctaga agatgagtca aaatccctca aatcacaaat agctgaagcc aaaatcatct
      601 gcaagacatt taaaatgagt gaagaacgac gggctatagc aataaaagat gctttgaatg
      661 aaaattctca acttcagaca agccataaac agctttttca gcaagaagct gaagtatgga
      721 aaggacaagt gagtgaactt aataaacaga aaataacatt tgaagactcc aaagtacacg
      781 cagaacaagt tctgaatgat aaagaaaatc acatcaagac cctgactgga cacttgccaa
      841 tgatgaaaga tcaggctgct gtgcttgaag aagacacaac ggatgatgat aacctggaat
      901 tagaagtgaa cagtcaatgg gaaaatggtg ctaacttaga tgatcctctg aaaggagctt
      961 tgaagaaact gattcatgct gctaagttaa atgtttcttt aaaaagctta gaaggagaaa
     1021 gaaaccacat tattattcag ttatctgaag tggacaaaac aaaggaagag cttacagagc
     1081 atattaaaaa tcttcagact caacaagcat ctttgcaatc agaaaacata tattttgaaa
     1141 gtgagaatca gaagcttcaa cagaaactta aaataatgac tgaattctat caagaaaatg
     1201 aaatgaaact ctacaggaaa ttaacagtgg aggaaaatta ccgaatagag gaagaagaga
     1261 agctttctag agtggaagaa aagctcagcc gtgccactga acagctggag acctatagaa
     1321 agctagccaa agatcttgaa gaagaattgg agagaactgt tcatttttat caaaagcagg
     1381 ttatttccta cgagaaaaga ggacatgata attggttggc agctcggact gctgaaagaa
     1441 acctcagtga tttaaggaaa gaaaatgctc acaacaaaca aaaattaact gaaacagagt
     1501 tgaaatttga acttttagaa aaagatccta atgcacttga tgtttcaaat acagcatttg
     1561 gcagagagca tgccccgaat ggtcccgcac cattgggtca gcgttcatct gaaacgagag
     1621 cttttctctc tcctcaaact ttgttggagg atccactggg actctcacct gtgcttccgg
     1681 agggaggagg aagaggccca agaggcccag ggaatcccct ggaccatcag attaccaatg
     1741 aaagaggaga accaagctgt gacaggttaa ccgatcctca cagggctcct tctgacactg
     1801 ggtccctgtc atctccggtg gaacaggact gtaagatgat gtttcctcca ccaggacaat
     1861 catatcctga ttcagctctt cctcctcaaa gggaagacag attttattct aattctgaaa
     1921 gactgtctgg atcagcagaa cccagaagtt ttaaaatgac ttctttggat aaaatggatg
     1981 ggtcaatgcc ttcagaaatg gaatccagta gaaatgatgc caaagatgat cttggtaatt
     2041 taaatgtgcc tgattcatct ctccctgctg aaaatgaagc aactggccct ggctttattc
     2101 ctccacctct tgctccagtc agaggaccat tgtttccagt ggatacaagg ggcccgttca
     2161 tgagaagagg acctcctttc cccccacctc ctccaggaac catgtttgga gcttctcgag
     2221 gttattttcc accaagggat ttcccaggtc caccacatgc tccatttgca atgagaaaca
     2281 tctacccacc gaggggttta cctccttact ttcacccgag acctggattt taccccaacc
     2341 ccgcattctg aaggtagaag cgagttccct tcaggattga ttccgccttt aatgctactg
     2401 aacatccagg accacaaaag aaacctgaca atattgttgc tttcttcaaa agtaattttg
     2461 actgatctca ttttcagttt aagtaactgc tattacttaa gtgattgcac ttttgctcaa
     2521 attgaagttt aatggaatta taattctcag gatagtattt tgtaaataaa gatgttttaa
     2581 ataggaa
//
LOCUS       NM_001008749            2661 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens RAB19, member RAS oncogene family (RAB19), mRNA.
ACCESSION   NM_001008749
VERSION     NM_001008749.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2661)
  AUTHORS   Hu N and Ji H.
  TITLE     N6-methyladenosine (m6A)-mediated up-regulation of long noncoding
            RNA LINC01320 promotes the proliferation, migration, and invasion of
            gastric cancer via miR495-5p/RAB19 axis
  JOURNAL   Bioengineered 12 (1), 4081-4091 (2021)
   PUBMED   34288797
  REMARK    GeneRIF: N6-methyladenosine (m6A)-mediated up-regulation of long
            noncoding RNA LINC01320 promotes the proliferation, migration, and
            invasion of gastric cancer via miR495-5p/RAB19 axis.
REFERENCE   2  (bases 1 to 2661)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2661)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853562.29704.1,
            SRR14038196.3274789.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000537763.6/ ENSP00000440167.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DY655778.1, DN996121.1, BC140796.1 and AC069335.17.
            On Jul 12, 2019 this sequence version replaced NM_001008749.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
FEATURES             Location/Qualifiers
     source          1..2661
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..2661
                     /gene="RAB19"
                     /gene_synonym="RAB19B"
                     /note="RAB19, member RAS oncogene family"
                     /db_xref="GeneID:401409"
                     /db_xref="HGNC:HGNC:19982"
     misc_feature    169..171
                     /gene="RAB19"
                     /gene_synonym="RAB19B"
                     /note="upstream in-frame stop codon"
     CDS             184..837
                     /gene="RAB19"
                     /gene_synonym="RAB19B"
                     /note="GTP-binding protein RAB19B"
                     /codon_start=1
                     /product="ras-related protein Rab-19"
                     /protein_id="NP_001008749.2"
                     /db_xref="CCDS:CCDS34762.2"
                     /db_xref="GeneID:401409"
                     /db_xref="HGNC:HGNC:19982"
                     /translation="MHFSSSARAADENFDYLFKIILIGDSNVGKTCVVQHFKSGVYTET
                     QQNTIGVDFTVRSLDIDGKKVKMQVWDTAGQERFRTITQSYYRSAHAAIIAYDLTRRST
                     FESIPHWIHEIEKYGAANVVIMLIGNKCDLWEKRHVLFEDACTLAEKYGLLAVLETSAK
                     ESKNIEEVFVLMAKELIARNSLHLYGESALNGLPLDSSPVLMAQGPSEKTHCTC"
     misc_feature    319..345
                     /gene="RAB19"
                     /gene_synonym="RAB19B"
                     /note="propagated from UniProtKB/Swiss-Prot (A4D1S5.2);
                     Region: Effector region. /evidence=ECO:0000250"
     misc_feature    832..834
                     /gene="RAB19"
                     /gene_synonym="RAB19B"
                     /note="Cysteine methyl ester. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (A4D1S5.2);
                     methylation site"
     regulatory      2634..2639
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB19"
                     /gene_synonym="RAB19B"
                     /note="hexamer: ATTAAA"
     polyA_site      2661
                     /gene="RAB19"
                     /gene_synonym="RAB19B"
                     /note="major polyA site"
ORIGIN
        1 actttctcag gacgccaaac ccgacacctg gggccagaac tacacttccc accaagcagc
       61 gaggcaggag gaagaagggg gcactggggg gctgaaaagc aaacccagaa gaaagcgaaa
      121 acattacctg ctgaccagca gaggtgagag agcgagacag ttctgttcta ggtggcaaga
      181 accatgcact tctccagctc agccagggca gcagatgaga actttgacta tttgttcaag
      241 attatcctca ttggggattc caatgtgggg aagacgtgtg tggtgcagca tttcaagtct
      301 ggagtctaca ctgagacaca gcagaacacg attggagtgg actttaccgt gcgttccctt
      361 gatattgacg gcaaaaaagt gaagatgcag gtgtgggaca cagctggcca ggagcgcttc
      421 cgcaccatca cccaaagcta ctaccgcagt gcccacgcag ccatcatcgc ctatgacctc
      481 acccggcggt ccacgttcga gtccatccct cactggattc atgagataga gaaatatgga
      541 gctgcaaatg tggtcattat gctgattgga aataaatgtg acctctggga aaagcggcac
      601 gtcctgttcg aggatgcctg cacactggct gagaagtacg gcctcctggc cgttttggag
      661 acatctgcca aggagtcaaa gaacatagaa gaagtcttcg tgctcatggc caaggagctg
      721 atcgcgcgca acagcctgca cctatatggg gagagtgccc tgaacggcct ccccctggac
      781 tccagccccg ttcttatggc ccagggtcca agtgaaaaga cccactgcac ttgctaagat
      841 gtttgcaaag ccagttgcac ccaccaaaga ggccgcctct gaaaccaaag gtagccagga
      901 taccgtagtg ttgccccagt ggcgctttag accccagcgt ggacttgccg ctcaccccta
      961 atcctcccag tctggatggg ccacacttct cccttgactc acaccacagg tcatagctgc
     1021 tgactctcag gaaaaccagc accattgttt tcactgactc ttgactcctg gagaaggcag
     1081 gacttcaggc taggagaggg aggacgaagt gtactcttct cccctttcac ttttctgtct
     1141 ccctagagct tctgctgctt tctactgaat tttgtttctt gcttgaagaa gagggtagtg
     1201 aaggaaagga ggaaggcaaa acagcaagag agagaagagg ctgtttggaa cattctggaa
     1261 cagtttgaaa cagctcaggc agggagaatg gaacgaaagc ctgcaatgag aaaccagaat
     1321 gctgctatca ttttgttcct gacattcaca cctcaggtct tcactttggg gagcgaagcc
     1381 ttttagcaga aataccagaa gtaccatctt gccaaatggt caggaactgt ctgatagaga
     1441 tggaactgga attcactcta ttctagcagg gctgacttgg ccaccctctt gggatagggg
     1501 aagacacctg caattttttt tctttctttt tttttttttt ttttttgaga cagggtcata
     1561 ctctgtcacc caagctggag tatagtggtg ggatcttggc tcactgcaac ctctacctcc
     1621 tgggttcaag aggttctccc acctcagtct cccaagtggc tgggactaca gacacacgcc
     1681 accactcctg gctaattttt gtattttttg tagagacaag gtttcaccat gttgctcagg
     1741 ctgatcttga actcctgagc tcaggtgatc tgcccacctt ggcttcccaa agtgctggga
     1801 ttacaggcat gagccaccat gcctgttctt tttttttttt tttttttttg agactgagtc
     1861 tcactctgtc actcaggctg gaatgcagtg gcatgatctc ggctcactgc aacctcaacc
     1921 tccacctcct gggttcaagc aattctcctg cctcagcctc ccaagtagct gggactactg
     1981 gcactcacta ccacgcccag ctcatttttt ttgtatattt agtagagact gggtttcact
     2041 acgttggtca ggctggtctt gaactcctga cctcatgatc cacccgtctc ggcctcctaa
     2101 agtgctggga ttacaggcat gagccaccat gcccggccct tttttttttt tttttgagac
     2161 agagtttcgc tcttgttgcc caggctggag tgcaatggtg tgacctcggc tcactgcaac
     2221 ttctgccttc cagattcaag tgattctcct gcctcaacct ccctagtagc tgggattaca
     2281 gcctcccgcc accacgccta gctaattttt gtgtttttag tagaggcagg gtttcaccac
     2341 gttggccagg ctggtctcga actcctgacc tcatgatcca cctgtctcgt ggcctcccaa
     2401 agtgctggga ttacaggtgt gaaccaccgc acctggcctt tttttattat tattattgta
     2461 gaaatgaagt cttgctacgt tgcccaggct ggtctccaat tcctgagctc acaggtttct
     2521 cccacctcag cctcccaaag tgctgggatt acaggcatga gccaccatgc ctggcacaat
     2581 ttctttctag aacccaaatc atctgccaga tcagaagtca tttttaaatt aaaattaaat
     2641 tggttcatag atgaatatca a
//
LOCUS       NM_001008777            2303 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens F-box protein 47 (FBXO47), mRNA.
ACCESSION   NM_001008777
VERSION     NM_001008777.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2303)
  AUTHORS   Hua R, Wei H, Liu C, Zhang Y, Liu S, Guo Y, Cui Y, Zhang X, Guo X,
            Li W and Liu M.
  TITLE     FBXO47 regulates telomere-inner nuclear envelope integration by
            stabilizing TRF2 during meiosis
  JOURNAL   Nucleic Acids Res 47 (22), 11755-11770 (2019)
   PUBMED   31724724
  REMARK    GeneRIF: A novel mechanism of FBXO47 in telomeric shelterin subunit
            stabilization during meiosis.
REFERENCE   2  (bases 1 to 2303)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   3  (bases 1 to 2303)
  AUTHORS   Simon-Kayser B, Scoul C, Renaudin K, Jezequel P, Bouchot O, Rigaud J
            and Bezieau S.
  TITLE     Molecular cloning and characterization of FBXO47, a novel gene
            containing an F-box domain, located in the 17q12 band deleted in
            papillary renal cell carcinoma
  JOURNAL   Genes Chromosomes Cancer 43 (1), 83-94 (2005)
   PUBMED   15723337
  REMARK    GeneRIF: FBXO47 is preferentially expressed in normal tissue
            relative to the corresponding tumor tissue, particularly in the
            kidney, liver, and pancreas.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY700575.1, BC140880.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378079.3/ ENSP00000367319.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006441.13, BC140879.1, AY700575.1 and DB340247.1.
            On May 17, 2019 this sequence version replaced NM_001008777.2.
FEATURES             Location/Qualifiers
     source          1..2303
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..2303
                     /gene="FBXO47"
                     /note="F-box protein 47"
                     /db_xref="GeneID:494188"
                     /db_xref="HGNC:HGNC:31969"
                     /db_xref="MIM:609498"
     misc_feature    178..180
                     /gene="FBXO47"
                     /note="upstream in-frame stop codon"
     CDS             202..1560
                     /gene="FBXO47"
                     /codon_start=1
                     /product="F-box only protein 47"
                     /protein_id="NP_001008777.2"
                     /db_xref="CCDS:CCDS32639.1"
                     /db_xref="GeneID:494188"
                     /db_xref="HGNC:HGNC:31969"
                     /db_xref="MIM:609498"
                     /translation="MASRINTNFTLIPNQKLRRSNRQTSCYSKTLGSGFQPISTFGNFK
                     ALPLEIFQIILKYLSVKDISMLSMVSKTVSQHIINYISTSSGSKRLLLQDFHNLELPDR
                     RQDSAILEHYRSLGLLFKRCTLLLPTKERLKYIHKILTEVSCFKFNGCAAPMQCLGLTC
                     YGMFLQTLTAGWDELECHRVYNFLCELTNLCRKIQMAVCSKPGSAQKLELRIRLFCRNV
                     LLDHWTHRSDSAFWLTRILKPWPMVNQARLLYIIFGPISPQDGQVVWQEMIEEPTDEFS
                     LKGLADAIKLLYDASTKEWTADDVISLVDELSVVPREWLLENNARLLMLSGNNICFSFM
                     ASKAVNGRTIELARLVVFLALVCEKELYCMDWTVKMMQKVCKVFSTPVERKNFLQNVAN
                     AFACVIMEMLQSIMSGDRDEDDRSFLNLFHLVHAQANFHKEVLYLTMNTPLST"
ORIGIN
        1 gggtagggct gcagctccgg agcctacggg agtgtgaccc tctcgcctcc tggcgggaag
       61 ctcttgagga gatattttct tttctaaaca ctaagaaatt tgaggatggt ggggcaaaac
      121 gactaactcc cactttcctg tgactctgta gccggaaaaa ctgtcaaaat ctgtggataa
      181 atttgtgaga caagaagaag aatggcatcc agaataaata caaatttcac tttgattccc
      241 aaccagaaac ttagacgtag taatcgtcaa accagctgtt attccaagac ccttggctca
      301 ggctttcaac ccatatcaac atttggaaat tttaaagcct taccattgga aatattccag
      361 ataattttaa aatatttgtc agtgaaggat atcagcatgc taagcatggt gtccaaaaca
      421 gtcagccaac acattattaa ttatatctca acctcatcag gaagcaaaag acttttacta
      481 caggactttc ataaccttga gctgcctgac aggagacaag actctgctat actggagcac
      541 tacagatctc taggtctact gtttaaaaga tgcacattgc tgctacccac caaggaaagg
      601 ctaaaataca ttcacaagat actcacagaa gtttcctgct ttaaattcaa tggctgtgca
      661 gctcctatgc agtgtttagg attaacatgt tatggcatgt ttttacagac cttaacagca
      721 ggttgggatg aacttgagtg ccatcgcgtt tataatttct tatgcgaact gactaatctc
      781 tgccgcaaga tacaaatggc tgtctgcagc aaaccaggaa gtgcccaaaa actggagtta
      841 agaatcagac tcttctgtag gaatgtcctc cttgatcatt ggacacatcg aagtgattct
      901 gctttttggt tgacgcgaat attaaaacca tggccaatgg tgaatcaggc aagattactg
      961 tatatcatct ttgggccaat atctcctcaa gatggacagg tggtttggca ggaaatgata
     1021 gaagaaccta cagatgaatt cagtctgaaa ggtttggctg atgccattaa gttactatat
     1081 gacgctagca ctaaagagtg gacagcagat gatgttatca gtcttgtaga tgaactatca
     1141 gtggttcccc gtgagtggct tctagagaat aatgcacgtc tcctaatgct aagtggaaac
     1201 aacatctgtt tcagtttcat ggctagtaaa gctgtgaatg gacgcaccat tgaactggca
     1261 aggctcgtag tctttttggc tttggtgtgt gagaaagaac tgtactgcat ggattggaca
     1321 gttaaaatga tgcaaaaagt ctgcaaagtc tttagcactc cagtggaaag aaagaacttc
     1381 ctgcagaatg tggcaaatgc atttgcatgt gttataatgg aaatgctgca atcaattatg
     1441 tctggagacc gtgatgaaga tgacagaagc tttttgaatt tgttccatct tgtacatgct
     1501 caggctaact tccataagga ggtcctgtat ttgaccatga atactcctct gtctacctaa
     1561 atcctcagaa agccttgcct ttagagaacg tcactgaacg aatgattaga ggagtgctac
     1621 tttttcactc aaaaaatagc atccatggga ctttttatca tctaagtaac ctaagaattc
     1681 aaaagctgga tagaatttta gaagcaacta cgtacatcat tattaatata aaaataacag
     1741 gcagcctcaa gaatgtgctg agatttctct ggaaaacaag ctctgcctct ccgggtttta
     1801 gtcaacctaa caccaaacca aaatagaatg ttagctgttc aagaatctgg gaccagccaa
     1861 cctgtatgta tgcatttttg aagcaagaga aaattccatt ttatagttag acccaaattc
     1921 actaaatagt gtgtatgttc actttgttta agttgtatag acatagccca gaatgttttg
     1981 tgaagatttg caatatggtg ttttggaatg tgtagaatac aaatcacagt ttttactacc
     2041 ttcttggcat atgcttacaa agaacattat attttgttca tgttttacat gaactaatgg
     2101 ataaaaaaca aagtatacat atatgtctat atatatatat agacacacac acacagacat
     2161 atatttcctt ctttaaggta atcatacaaa aggtctatac atacaggaag gtatatattg
     2221 tctcaatgca atcaaatcat cttttactgg ggattcaaat aaaatgtagc aaataagaga
     2281 aaaataaaat gaaagaaaat agc
//
LOCUS       NM_001008778            1042 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens speedy/RINGO cell cycle regulator family member C
            (SPDYC), mRNA.
ACCESSION   NM_001008778
VERSION     NM_001008778.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1042)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1042)
  AUTHORS   Mouron S, de Carcer G, Seco E, Fernandez-Miranda G, Malumbres M and
            Nebreda AR.
  TITLE     RINGO C is required to sustain the spindle-assembly checkpoint
  JOURNAL   J Cell Sci 123 (Pt 15), 2586-2595 (2010)
   PUBMED   20605920
  REMARK    GeneRIF: Results indicate a role for RINGO C in the mitotic
            checkpoint, which might be mediated by defective recruitment of SAC
            components and deregulation of the activity of Aurora kinase B.
REFERENCE   3  (bases 1 to 1042)
  AUTHORS   Cheng A and Solomon MJ.
  TITLE     Speedy/Ringo C regulates S and G2 phase progression in human cells
  JOURNAL   Cell Cycle 7 (19), 3037-3047 (2008)
   PUBMED   18802405
  REMARK    GeneRIF: CDK-Speedy/Ringo C complexes positively regulate cell cycle
            progression during the late S and G(2) phases of the cell cycle.
REFERENCE   4  (bases 1 to 1042)
  AUTHORS   Cheng A, Xiong W, Ferrell JE Jr and Solomon MJ.
  TITLE     Identification and comparative analysis of multiple mammalian
            Speedy/Ringo proteins
  JOURNAL   Cell Cycle 4 (1), 155-165 (2005)
   PUBMED   15611625
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC144548.1, AY820305.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000377185.3/ ENSP00000366390.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003068.3.
            On Jul 14, 2021 this sequence version replaced NM_001008778.2.
FEATURES             Location/Qualifiers
     source          1..1042
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..1042
                     /gene="SPDYC"
                     /gene_synonym="Ringo2; RINGOC; SPDYE4"
                     /note="speedy/RINGO cell cycle regulator family member C"
                     /db_xref="GeneID:387778"
                     /db_xref="HGNC:HGNC:32681"
                     /db_xref="MIM:614030"
     misc_feature    4..6
                     /gene="SPDYC"
                     /gene_synonym="Ringo2; RINGOC; SPDYE4"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MLWAIPELGSPCPISISYE"
     CDS             61..885
                     /gene="SPDYC"
                     /gene_synonym="Ringo2; RINGOC; SPDYE4"
                     /note="RINGO C; hSpy/Ringo C; speedy homolog C; rapid
                     inducer of G2/M progression in oocytes C"
                     /codon_start=1
                     /product="speedy protein C"
                     /protein_id="NP_001008778.2"
                     /db_xref="CCDS:CCDS31606.2"
                     /db_xref="GeneID:387778"
                     /db_xref="HGNC:HGNC:32681"
                     /db_xref="MIM:614030"
                     /translation="MSDSQDPTTSPVVTTQVELGGCSRQGGGNGFLRFRQHQEVQAFLS
                     LLEDSFVQEFLSKDPCFQISDKYLLAMVLVYFQRAHLKLSEYTHSSLFLALYLANDMEE
                     DLEGPKCEIFPWALGKDWCLRVGKFLHQRDKLWARMGFRAVVSRQCCEEVMAKEPFHWA
                     WTRDRRPHHGGVQRVCPQVPVRLPRGPGLSPPHCSPCGLPQHCSSHLLKPVSSKCPSLT
                     SECHRPPSQNYLSRVKNAWGGDFLIVLPPQMQLEPGTYSLRIFPKPPARPGH"
     regulatory      1011..1016
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPDYC"
                     /gene_synonym="Ringo2; RINGOC; SPDYE4"
                     /note="hexamer: AATAAA"
     polyA_site      1042
                     /gene="SPDYC"
                     /gene_synonym="Ringo2; RINGOC; SPDYE4"
                     /note="major polyA site"
ORIGIN
        1 gttatgctct gggccattcc tgagctcggg tcaccctgcc ccatctccat ctcctatgag
       61 atgagtgact cccaagaccc caccacttcc cctgtagtta ccacccaggt agagctgggg
      121 ggctgcagcc ggcaaggtgg gggcaatggg ttcctccgtt ttcgccagca ccaggaggtc
      181 caggccttcc tcagccttct ggaggacagt tttgtccagg aattcctctc caaagacccc
      241 tgcttccaga tttcagataa gtatctcctg gccatggtgc tggtctactt ccagcgcgcc
      301 cacctgaagc tcagcgagta tacccacagc agcctgttct tggccctgta ccttgcaaac
      361 gacatggagg aggacctgga gggccccaaa tgtgagattt ttccatgggc cctgggaaaa
      421 gattggtgtt tacgagtggg gaaattcctg caccagaggg ataagctttg ggcacggatg
      481 ggtttccggg ctgttgtgag ccgccagtgc tgtgaggagg tcatggcaaa ggagccattc
      541 cactgggctt ggactcggga ccggcgcccc caccatggtg gggttcagag ggtctgtcca
      601 caggtccctg ttcgccttcc ccggggccct ggcctctcgc cgccccactg ttccccctgt
      661 ggtttgcccc agcactgcag cagccacttg cttaagcctg tgtcatccaa gtgcccttct
      721 ctgacctctg aatgtcatcg ccctccctcc caaaattatc tctcaagggt caaaaacgcc
      781 tggggtgggg actttctcat cgtcttgcct ccccagatgc aactggaacc aggcacctac
      841 tccctccgca tcttcccaaa gcctccggca cgccctgggc actgaagctc tgcagggtga
      901 agaacagcac gcctgctggc ccactgactg acacaccatt ggctgtgctc ccacccctgc
      961 cccttcctcc cagcctgcag cttgtgccca ctctggtgcc agtcccctct aataaattca
     1021 tgtccacagg acaccaactg tg
//
LOCUS       NM_001008783            2343 bp    mRNA    linear   PRI 16-JUN-2023
DEFINITION  Homo sapiens solute carrier family 35 member D3 (SLC35D3), mRNA.
ACCESSION   NM_001008783
VERSION     NM_001008783.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2343)
  AUTHORS   Qian C, Wu Z, Sun R, Yu H, Zeng J, Rao Y and Li Y.
  TITLE     Localization, proteomics, and metabolite profiling reveal a putative
            vesicular transporter for UDP-glucose
  JOURNAL   Elife 10, e65417 (2021)
   PUBMED   34269178
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2343)
  AUTHORS   Zhang Z, Hao CJ, Li CG, Zang DJ, Zhao J, Li XN, Wei AH, Wei ZB, Yang
            L, He X, Zhen XC, Gao X, Speakman JR and Li W.
  TITLE     Mutation of SLC35D3 causes metabolic syndrome by impairing dopamine
            signaling in striatal D1 neurons
  JOURNAL   PLoS Genet 10 (2), e1004124 (2014)
   PUBMED   24550737
  REMARK    GeneRIF: Our results suggest that the SLC35D3 gene, close to the
            D6S1009 locus, is a candidate gene for MetS, which is involved in
            metabolic control in the central nervous system by regulating
            dopamine signaling. Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC087842.1, SRR1803614.17469.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2149004
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000331858.5/ ENSP00000333591.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK316095.1, AK295424.1, BC067217.1 and BE669463.1.
            On Nov 22, 2018 this sequence version replaced NM_001008783.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2343
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.3"
     gene            1..2343
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
                     /note="solute carrier family 35 member D3"
                     /db_xref="GeneID:340146"
                     /db_xref="HGNC:HGNC:15621"
                     /db_xref="MIM:612519"
     CDS             129..1379
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
                     /note="frc, fringe-like 1; fringe connection-like protein
                     1"
                     /codon_start=1
                     /product="solute carrier family 35 member D3"
                     /protein_id="NP_001008783.1"
                     /db_xref="CCDS:CCDS34544.1"
                     /db_xref="GeneID:340146"
                     /db_xref="HGNC:HGNC:15621"
                     /db_xref="MIM:612519"
                     /translation="MRQLCRGRVLGISVAIAHGVFSGSLNILLKFLISRYQFSFLTLVQ
                     CLTSSTAALSLELLRRLGLIAVPPFGLSLARSFAGVAVLSTLQSSLTLWSLRGLSLPMY
                     VVFKRCLPLVTMLIGVLVLKNGAPSPGVLAAVLITTCGAALAGAGDLTGDPIGYVTGVL
                     AVLVHAAYLVLIQKASADTEHGPLTAQYVIAVSATPLLVICSFASTDSIHAWTFPGWKD
                     PAMVCIFVACILIGCAMNFTTLHCTYINSAVTTSFVGVVKSIATITVGMVAFSDVEPTS
                     LFIAGVVVNTLGSIIYCVAKFMETRKQSNYEDLEAQPRGEEAQLSGDQLPFVMEELPGE
                     GGNGRSEGGEAAGGPAQESRQEVRGSPRGVPLVAGSSEEGSRRSLKDAYLEVWRLVRGT
                     RYMKKDYLIENEELPSP"
     misc_feature    153..215
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5M8T2.1);
                     transmembrane region"
     misc_feature    240..302
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5M8T2.1);
                     transmembrane region"
     misc_feature    318..380
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5M8T2.1);
                     transmembrane region"
     misc_feature    435..497
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5M8T2.1);
                     transmembrane region"
     misc_feature    519..581
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5M8T2.1);
                     transmembrane region"
     misc_feature    591..653
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5M8T2.1);
                     transmembrane region"
     misc_feature    687..749
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5M8T2.1);
                     transmembrane region"
     misc_feature    798..860
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5M8T2.1);
                     transmembrane region"
     misc_feature    897..959
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5M8T2.1);
                     transmembrane region"
     misc_feature    966..1028
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5M8T2.1);
                     transmembrane region"
     misc_feature    1128..1280
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5M8T2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2297..2302
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
                     /note="hexamer: AATAAA"
     regulatory      2317..2322
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
                     /note="hexamer: ATTAAA"
     polyA_site      2322
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
                     /note="major polyA site"
     polyA_site      2343
                     /gene="SLC35D3"
                     /gene_synonym="FRCL1"
ORIGIN
        1 agccggcgcc ccctgccctt cgccgccgcg ctgggcgggc gcccccgccg ccctcactcc
       61 gctgctcccg gctcctcgcg cgcaggtcgc ggagctccgc caccgctggg tgcggcgagg
      121 ccggcgcgat gcggcagctg tgccggggcc gcgtgctggg catctcggtg gccatcgcgc
      181 acggggtctt ctcgggctcc ctcaacatct tgctcaagtt cctcatcagc cgctaccagt
      241 tctccttcct gaccctggtg cagtgcctga ccagctccac cgcggcgctg agcctggagc
      301 tgctgcggcg cctcgggctc atcgccgtgc cccccttcgg tctgagcctg gcgcgctcct
      361 tcgcgggggt cgcggtgctc tccacgctgc agtccagcct cacgctctgg tccctgcgcg
      421 gcctcagcct gcccatgtac gtggtcttca agcgctgcct gcccctggtc accatgctca
      481 tcggcgtcct ggtgctcaag aacggcgcgc cctcgccagg ggtgctggcg gcggtgctca
      541 tcaccacctg cggcgccgcc ctggcaggag ccggcgacct gacgggcgac cccatcgggt
      601 acgtcacggg agtgctggcg gtgctggtgc acgctgccta cctggtgctc atccagaagg
      661 ccagcgcaga caccgagcac gggccgctca ccgcgcagta cgtcatcgcc gtctctgcca
      721 ccccgctgct ggtcatctgc tccttcgcca gcaccgactc catccacgcc tggaccttcc
      781 cgggctggaa ggacccggcc atggtctgca tcttcgtggc ctgcatcctg atcggctgcg
      841 ccatgaactt caccacgctg cactgcacct acatcaattc ggccgtgacc accagcttcg
      901 tgggtgtggt gaagagcatc gccaccatca cggtgggcat ggtggccttc agcgacgtgg
      961 agcccacctc tctgttcatt gccggcgtgg tggtgaacac cctgggctct atcatttact
     1021 gtgtggccaa gttcatggag accagaaagc aaagcaacta cgaggacctg gaggcccagc
     1081 ctcggggaga ggaggcgcag ctaagtggag accagctgcc gttcgtgatg gaggagctgc
     1141 ccggggaggg aggaaatggc cggtcagaag gtggggaggc agcaggtggc cccgctcagg
     1201 agagcaggca agaggtcagg ggcagccccc gaggagtccc gctggtggct gggagctctg
     1261 aagaagggag caggaggtcg ttaaaagatg cttacctcga ggtatggagg ttggttaggg
     1321 gaaccaggta tatgaagaag gattatttga tagaaaacga ggagttaccc agtccttgag
     1381 aaggaggtgc atgtacgtac ctatgtgcat acacttattt tatatgttag aaatgacgtg
     1441 ttttaatgag aggcctcccc gttttattct ttgaggagtg gggaagggaa gaaaagaaag
     1501 aagctgaaag gtactgacac agagcaacaa aattagcacc tgtgtgaatt atttagtgtg
     1561 acttcacctg aggcatcaca gagacaaaag aatgtgaagc tacttaacaa agtaaggcaa
     1621 cgtttctgct tcagactcct ggcacattta ctttttgtca ttataaccat aactaaatat
     1681 ctgcatgtac caagagtccc taagccaccc cctccaaaga tggagtgtag aaatgatgac
     1741 agcacttagt aagttcaaag atgacattca gggatgcatt ttttgatgat agaactacag
     1801 tttttatcgc cagctgggca aagagtatat tgctgaaatg atatataaat atattgaatt
     1861 gatgtttact gtttatagtc atctgaaata tcatatttac tctgattcta ctcacttgtt
     1921 ttttaaaaat aagtgtccta ttattgtatt atatattgat agaaactgtt aaagctattt
     1981 tgaaaatatg agttcttagc tttaatcatg aagtctgaag tttgctttca gtaattattt
     2041 taaaagttgt tttggttcat tgctttataa tatttattat tgaatgccaa acctgttctt
     2101 ttttttactg tgtccaatat tctttcaagc aaatgcaatg gctggaatat aattcagaat
     2161 taactgaaac ccagccagaa gagggaccac ctgtaaagca agtcctttca agtttcactg
     2221 cacatcccaa accatgttac aaaaagagca actgctatat tcacattatg atatttttct
     2281 atcttaaatt tgtcaaaata aagtatgagt ctaactatta aaggatacat tgttagaaat
     2341 tta
//
LOCUS       NM_001008801            4405 bp    mRNA    linear   PRI 11-DEC-2020
DEFINITION  Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2,
            mRNA.
ACCESSION   NM_001008801
VERSION     NM_001008801.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4405)
  AUTHORS   Sun L, Gu S, Li N, Zheng D, Sun Y, Li D, Ji C, Ying K, Xie Y and Mao
            Y.
  TITLE     A novel zinc finger gene ZNF468 with two co-expressional splice
            variants, ZNF468.1 and ZNF468.2
  JOURNAL   Biochem Genet 43 (5-6), 271-286 (2005)
   PUBMED   16144304
  REMARK    GeneRIF: 2 splice variants ZNF468.1 and ZNF468.2 contain 11
            C2H2-type zinc finger motifs at their C-termini. They are widely
            expressed in normal human tissues, except in heart and brain, and
            they are also co-expressional.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CR936695.1, SRR1803612.67081.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03267753
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000595646.6/ ENSP00000470381.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY442330.1, BC037409.1, AK025501.1 and AC008813.6.
            On Nov 23, 2018 this sequence version replaced NM_001008801.1.
            Transcript Variant: This variant (2) encodes the longer isoform
            (2).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4405
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     gene            1..4405
                     /gene="ZNF468"
                     /note="zinc finger protein 468"
                     /db_xref="GeneID:90333"
                     /db_xref="HGNC:HGNC:33105"
                     /db_xref="MIM:616841"
     misc_feature    59..61
                     /gene="ZNF468"
                     /note="upstream in-frame stop codon"
     CDS             122..1690
                     /gene="ZNF468"
                     /note="isoform 2 is encoded by transcript variant 2; zinc
                     finger protein ZNF468"
                     /codon_start=1
                     /product="zinc finger protein 468 isoform 2"
                     /protein_id="NP_001008801.1"
                     /db_xref="CCDS:CCDS33094.1"
                     /db_xref="GeneID:90333"
                     /db_xref="HGNC:HGNC:33105"
                     /db_xref="MIM:616841"
                     /translation="MALPQGLLTFRDVAIEFSQEEWKCLDPAQRTLYRDVMLENYRNLV
                     SLDISSKCMLKTLSSTGQGNTEVIHTGTLHRQASHHIGEFCFHEIEKDIHGFEFQWKED
                     ETNGHAAPMTEIKELAGSTGQHDQRHAGNKRIKDQLGSSFHLHLPEPHIFQSEGKIGNQ
                     VEKSINNASSVSTSQRICCRPKTHISNKYGNNSLHSSLLTQKWEVHMREKSFECIQSFK
                     SFNCSSLLKKHQIIHLEEKQCKCDVCGKVFNQKRYLACHRRCHTGEKPYKCNECGKTFG
                     HNSSLFIHKALHTGEKPYECEECDKVFSRKSHLERHKRIHTGEKPYKCKVCDEAFAYNS
                     YLAKHTILHTGEKPYTCNECGKVFNRLSTLARHHRLHTGEKPYKCEECDKVFSRKSHLE
                     RHRRIHSGEKPYKCEECCKVFSRKSNLERHRRIHTGEKPYKCKVCDKAFQRDSHLAQHQ
                     RVHTGEKPYKCNECGKTFGQTSSLIIHRRLHTGEKPYKCNECGKTFSQMSSLVYHHRLH
                     SGEKP"
     regulatory      3769..3774
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF468"
                     /note="hexamer: AATAAA"
     polyA_site      3790
                     /gene="ZNF468"
                     /note="major polyA site"
     regulatory      3857..3862
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF468"
                     /note="hexamer: AATAAA"
     polyA_site      3883
                     /gene="ZNF468"
                     /note="major polyA site"
     regulatory      4331..4336
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF468"
                     /note="hexamer: AATACA"
     polyA_site      4352
                     /gene="ZNF468"
     regulatory      4380..4385
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF468"
                     /note="hexamer: AATAAA"
     polyA_site      4405
                     /gene="ZNF468"
ORIGIN
        1 agaccaggaa gtggatcccg tggaatgacg gtcacgccgc ggcgggcgga ttgacttcta
       61 aagactgttg gtacgtgaga aagaaaccca gaagaggaag aggaaagcaa aggagtcagg
      121 gatggctctt cctcagggtc tattgacatt cagggacgtg gccatagaat tctctcagga
      181 ggagtggaaa tgcctggacc ctgctcagag gactttatac agggacgtga tgctggagaa
      241 ttataggaac ctcgtctccc tggatatctc ttccaaatgc atgttgaaga cgttgtcgtc
      301 aacagggcaa ggcaatacag aagtgatcca cacagggaca ttgcacagac aagcaagtca
      361 tcacattgga gaattttgtt tccatgaaat tgagaaagac attcatggct tcgagtttca
      421 gtggaaagaa gatgaaacaa atggccatgc agcacccatg acagaaatca aagagttggc
      481 tggtagtaca ggccaacatg atcaaaggca tgctggaaac aagcgtatta aagatcagct
      541 tggatcaagc tttcatttgc atctgcctga accgcacata tttcagtctg aagggaaaat
      601 tggtaatcaa gttgagaagt ctatcaacaa tgcttcctca gtttcaacat cccaaagaat
      661 ttgttgtagg cccaaaaccc atatttctaa taagtatgga aataattccc tccattcttc
      721 attactcaca caaaaatggg aagtacacat gagagaaaaa tcttttgaat gtatacagag
      781 cttcaaatcc tttaattgca gctcactctt aaaaaaacat cagataattc acttagaaga
      841 gaaacaatgt aaatgtgatg tatgtggcaa ggtctttaat cagaagcgat accttgcctg
      901 ccatcgtaga tgtcacactg gtgagaaacc ttacaagtgt aatgagtgtg gcaagacctt
      961 tggtcataat tcatccctct tcattcacaa agcgcttcat actggagaga aaccttatga
     1021 atgtgaagaa tgtgacaaag ttttcagtcg caaatcacac cttgaaagac ataagaggat
     1081 tcatactgga gagaaaccat acaaatgtaa ggtttgtgat gaggctttcg catataattc
     1141 atatctggca aaacatacta tacttcacac tggagagaaa ccttacacat gtaatgaatg
     1201 tggcaaagtt tttaatcgac tatcaaccct tgcacgccat catagacttc atactggaga
     1261 gaaaccttac aaatgtgaag agtgtgacaa agttttcagt cgcaaatcac accttgaaag
     1321 acataggagg attcatagtg gagagaaacc ttacaaatgt gaagaatgtt gcaaagtttt
     1381 cagtcgcaaa tcaaacctgg aaagacacag gaggattcat actggagaga aaccatacaa
     1441 atgtaaggtt tgtgacaagg ctttccagag ggattcacac ctggcacaac atcagagagt
     1501 tcatactgga gagaaacctt acaagtgtaa tgagtgtggc aagaccttcg gtcagacatc
     1561 atcgcttata atccatcgta ggcttcatac tggagagaaa ccttacaagt gtaatgagtg
     1621 tggcaagacc ttcagtcaga tgtcatccct tgtataccat cataggcttc atagtggaga
     1681 gaagccttaa tagtgtaatg agtgtggcaa gaccttccat cacaattcaa ccctgtaagt
     1741 cataaggcaa ttcatactgg agagaaacct tacaagcata atgaatgtgg caaggttttt
     1801 aatcaaaaag caacctttgc acatcaccat agacttcata ctggagagaa accttacaaa
     1861 tgggaggaat gtgacaaaag ttttcagttg taaatcaaac cttaaaacac ataagaaaat
     1921 tcacattgaa gagaaaccat acagaggtaa ggtttgtgac aaggtttttg catataatgc
     1981 atatctggca aaacatacta gaattcacac tggagagaaa ctcattataa gtgtaatgag
     2041 tgtggcaaga ccgttggtca aaattcacac cttgtaatta aaaggtcaaa attcacacct
     2101 tgtaattcat agtggagaga aaccttacaa gcacaatgaa tgtgacatgg tttttaatca
     2161 acaatcacac cttgcaagtc atcatagact tcatactgca tagaaatctt acaaacgtga
     2221 acaatgtgac aaagttttca ttcacaaatc cagcttcaaa tacataggag aattcacact
     2281 ggagaaaagc catagaaatg taaggtttgt gacaaggctt tcgggaatga ttcacacgtg
     2341 gcaccccata ctagaattca cactggagag aaaccttaca agtgcaatga gtgtggcaaa
     2401 ccctttagtg ggcagtcacc acttattcac catcaagcaa tccatggtat agggaaactt
     2461 gactaatgta atgattgtca caaagttttc agtaatgcta caaccattgc acatcattgg
     2521 agaatccaca gtgaagagat cttacaagtg taataaatgt ggcaaatttt tcagacatcg
     2581 ttcatgcctt gcatttcact ggtgaactca tgctggagag aaaccttata aatgtcatga
     2641 ttgaggcaag gtcttcagtc aagcttcatc ctatgcaaaa cataggagga ttcatacagg
     2701 agagaaacct cacaagtgtg atgattgtgg caaagcgttt acttcacatt cacacctcat
     2761 tagacatcag agaatccatg ctggacagaa atcttacaaa tgtcatcagt gtggaagggt
     2821 cttcagtcca aggtcactcc ttgcagacca tcagacaatt ccttttggag acagttgttt
     2881 caaatgcagt gagtatagca aaccatcaag cattaattga cattagagtc aaatcagcct
     2941 tgacctgagt ttgttgattt aacattgatt tcaagcatta attgccatta aactgtttat
     3001 gttaagagga ttgcactggg ggccatggct catgcctgta attccagcac tttgagaggc
     3061 aaagacaggt aggtcactgg agctcacgag tttgagaaca gcctagccaa cagatgggag
     3121 ctacttttcc cagcctttat tttctttttc ttgttttttt tttgagatgg agtcttgctc
     3181 tgtcgcccag gttggagtgc agtggcacga tctcagctca ctgcaacctc ctcctcccag
     3241 gttcaagcaa ttctcctgcc tcagtctccc aagtagctga cactacagtt gtgtgccacc
     3301 acacctgggt aattttttgt gtttttagta gagactgggt ttcaccgtgt tagccagaat
     3361 ggtctctatc ttctgacttt atgatccacc cgactccacc tcccaaagtg ctgagattac
     3421 aggagtgagc cactgtgcct ggcctgtttt ttgtttcttt aacaaaaagt tatagagact
     3481 tctatgagta ttgtaccgaa tctaaatcac aattgagtat ataatcattg agcgatattc
     3541 atttttccaa tcagtatggg atttatatct atttatacat gtttttaatc attttgatca
     3601 atgtttatag atttcaaggt acaaacctca ctttttatgt ttattcctaa atatttctta
     3661 ctttaagttc tttagcaaat ggaattggtt tttaattttc ttttaaaatt atttattgtt
     3721 aatgtatgga aattcaacta atttttggtg ctgttattct attctgcaaa taaactgaat
     3781 gtgtttgtta gttccagttg cattttggct gactctttgt gattttcttt acagaaggtc
     3841 atgtcatcta caaacaaata aaatttgact tctttctttc tgatttggat gagtttgatt
     3901 tcttttgcta tttcattgtt ctggctagga cagccagtat tgattgaata gaaggggtga
     3961 gagcattctt gcatcatgtg agatcctaca ggaaaagcat tccgttttcc ctgattggtt
     4021 atttctgctg tggtcatttc atggatggtc tttgtattgc tgaggtaaat tttcttctgt
     4081 atctattttg tgtgggattt ctatgatgac ttgatgttga cttttgtgaa atgctttttc
     4141 tccatgtatt gagatgatgt ggttttcatc tttcattgtg ttcaagtggt atatcacatt
     4201 gatttgcttg actatgttga accatccttg catcccagaa ataagtggca cttgcatatc
     4261 tacaatcctt ttaatatcct cttgaataca gttcgctagt acaaggggtc ttcaagaagt
     4321 tcatgaaaaa aatacatatt atgtgaaaat tgcacatgat gtcacatttt ctgcaccaaa
     4381 ataaactggc acaaatctgt tataa
//
LOCUS       NM_001008895            5821 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA.
ACCESSION   NM_001008895
VERSION     NM_001008895.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5821)
  AUTHORS   Hu Y, Zhang R, Lu S, Zhang W, Wang D, Ge Y, Jiang F, Qin X and Liu
            Y.
  TITLE     S100 Calcium Binding Protein A16 Promotes Cell Proliferation by
            triggering LATS1 ubiquitin degradation mediated by CUL4A ligase to
            inhibit Hippo pathway in Glioma development
  JOURNAL   Int J Biol Sci 19 (7), 2034-2052 (2023)
   PUBMED   37151881
  REMARK    GeneRIF: S100 Calcium Binding Protein A16 Promotes Cell
            Proliferation by triggering LATS1 ubiquitin degradation mediated by
            CUL4A ligase to inhibit Hippo pathway in Glioma development.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5821)
  AUTHORS   Li X, Han YR, Xuefeng X, Ma YX, Xing GS, Yang ZW, Zhang Z, Shi L and
            Wu XL.
  TITLE     Lentivirus-mediated short hairpin RNA interference of CENPK inhibits
            growth of colorectal cancer cells with overexpression of Cullin 4A
  JOURNAL   World J Gastroenterol 28 (37), 5420-5443 (2022)
   PUBMED   36312839
  REMARK    GeneRIF: Lentivirus-mediated short hairpin RNA interference of CENPK
            inhibits growth of colorectal cancer cells with overexpression of
            Cullin 4A.
REFERENCE   3  (bases 1 to 5821)
  AUTHORS   Sun X, Zhou J and Zhang Z.
  TITLE     Cullin 4A/protein arginine methyltransferase 5 (CUL4A/PRMT5)
            promotes cell malignant phenotypes and tumor growth in
            nasopharyngeal carcinoma
  JOURNAL   Bioengineered 13 (4), 8712-8723 (2022)
   PUBMED   35333690
  REMARK    GeneRIF: Cullin 4A/protein arginine methyltransferase 5
            (CUL4A/PRMT5) promotes cell malignant phenotypes and tumor growth in
            nasopharyngeal carcinoma.
REFERENCE   4  (bases 1 to 5821)
  AUTHORS   Zhang Y, Yu H, Zhang J, Gao H, Wang S, Li S, Wei P, Liang J, Yu G,
            Wang X, Li X, Li D and Yang W.
  TITLE     Cul4A-DDB1-mediated monoubiquitination of phosphoglycerate
            dehydrogenase promotes colorectal cancer metastasis via increased
            S-adenosylmethionine
  JOURNAL   J Clin Invest 131 (21) (2021)
   PUBMED   34720086
  REMARK    GeneRIF: Cul4A-DDB1-mediated monoubiquitination of phosphoglycerate
            dehydrogenase promotes colorectal cancer metastasis via increased
            S-adenosylmethionine.
REFERENCE   5  (bases 1 to 5821)
  AUTHORS   Ito T, Ando H, Suzuki T, Ogura T, Hotta K, Imamura Y, Yamaguchi Y
            and Handa H.
  TITLE     Identification of a primary target of thalidomide teratogenicity
  JOURNAL   Science 327 (5971), 1345-1350 (2010)
   PUBMED   20223979
REFERENCE   6  (bases 1 to 5821)
  AUTHORS   Angers S, Li T, Yi X, MacCoss MJ, Moon RT and Zheng N.
  TITLE     Molecular architecture and assembly of the DDB1-CUL4A ubiquitin
            ligase machinery
  JOURNAL   Nature 443 (7111), 590-593 (2006)
   PUBMED   16964240
  REMARK    GeneRIF: crystallographic analyses of the virally hijacked form of
            the human DDB1-CUL4A-ROC1 machinery
REFERENCE   7  (bases 1 to 5821)
  AUTHORS   Ohta T, Michel JJ, Schottelius AJ and Xiong Y.
  TITLE     ROC1, a homolog of APC11, represents a family of cullin partners
            with an associated ubiquitin ligase activity
  JOURNAL   Mol Cell 3 (4), 535-541 (1999)
   PUBMED   10230407
REFERENCE   8  (bases 1 to 5821)
  AUTHORS   Chen LC, Manjeshwar S, Lu Y, Moore D, Ljung BM, Kuo WL, Dairkee SH,
            Wernick M, Collins C and Smith HS.
  TITLE     The human homologue for the Caenorhabditis elegans cul-4 gene is
            amplified and overexpressed in primary breast cancers
  JOURNAL   Cancer Res 58 (16), 3677-3683 (1998)
   PUBMED   9721878
REFERENCE   9  (bases 1 to 5821)
  AUTHORS   Osaka F, Kawasaki H, Aida N, Saeki M, Chiba T, Kawashima S, Tanaka K
            and Kato S.
  TITLE     A new NEDD8-ligating system for cullin-4A
  JOURNAL   Genes Dev 12 (15), 2263-2268 (1998)
   PUBMED   9694792
REFERENCE   10  (bases 1 to 5821)
  AUTHORS   Kipreos ET, Lander LE, Wing JP, He WW and Hedgecock EM.
  TITLE     cul-1 is required for cell cycle exit in C. elegans and identifies a
            novel gene family
  JOURNAL   Cell 85 (6), 829-839 (1996)
   PUBMED   8681378
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.25465.1,
            SRR1660807.245263.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375440.9/ ENSP00000364589.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB455959.1, BC008308.1,
            AL136221.38 and BU631279.1.
            On Nov 23, 2018 this sequence version replaced NM_001008895.3.
            Summary: CUL4A is the ubiquitin ligase component of a multimeric
            complex involved in the degradation of DNA damage-response proteins
            (Liu et al., 2009 [PubMed 19481525]).[supplied by OMIM, Oct 2009].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5821
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     gene            1..5821
                     /gene="CUL4A"
                     /note="cullin 4A"
                     /db_xref="GeneID:8451"
                     /db_xref="HGNC:HGNC:2554"
                     /db_xref="MIM:603137"
     CDS             16..2295
                     /gene="CUL4A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     CUL-4A"
                     /codon_start=1
                     /product="cullin-4A isoform 1"
                     /protein_id="NP_001008895.1"
                     /db_xref="CCDS:CCDS41908.1"
                     /db_xref="GeneID:8451"
                     /db_xref="HGNC:HGNC:2554"
                     /db_xref="MIM:603137"
                     /translation="MADEAPRKGSFSALVGRTNGLTKPAALAAAPAKPGGAGGSKKLVI
                     KNFRDRPRLPDNYTQDTWRKLHEAVRAVQSSTSIRYNLEELYQAVENLCSHKVSPMLYK
                     QLRQACEDHVQAQILPFREDSLDSVLFLKKINTCWQDHCRQMIMIRSIFLFLDRTYVLQ
                     NSTLPSIWDMGLELFRTHIISDKMVQSKTIDGILLLIERERSGEAVDRSLLRSLLGMLS
                     DLQVYKDSFELKFLEETNCLYAAEGQRLMQEREVPEYLNHVSKRLEEEGDRVITYLDHS
                     TQKPLIACVEKQLLGEHLTAILQKGLDHLLDENRVPDLAQMYQLFSRVRGGQQALLQHW
                     SEYIKTFGTAIVINPEKDKDMVQDLLDFKDKVDHVIEVCFQKNERFVNLMKESFETFIN
                     KRPNKPAELIAKHVDSKLRAGNKEATDEELERTLDKIMILFRFIHGKDVFEAFYKKDLA
                     KRLLVGKSASVDAEKSMLSKLKHECGAAFTSKLEGMFKDMELSKDIMVHFKQHMQNQSD
                     SGPIDLTVNILTMGYWPTYTPMEVHLTPEMIKLQEVFKAFYLGKHSGRKLQWQTTLGHA
                     VLKAEFKEGKKEFQVSLFQTLVLLMFNEGDGFSFEEIKMATGIEDSELRRTLQSLACGK
                     ARVLIKSPKGKEVEDGDKFIFNGEFKHKLFRIKINQIQMKETVEEQVSTTERVFQDRQY
                     QIDAAIVRIMKMRKTLGHNLLVSELYNQLKFPVKPGDLKKRIESLIDRDYMERDKDNPN
                     QYHYVA"
     misc_feature    43..45
                     /gene="CUL4A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13619.3); phosphorylation site"
     regulatory      3236..3241
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CUL4A"
                     /note="hexamer: ATTAAA"
     polyA_site      3256
                     /gene="CUL4A"
                     /note="major polyA site"
     regulatory      3731..3736
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CUL4A"
                     /note="hexamer: AATAAA"
     polyA_site      3758
                     /gene="CUL4A"
                     /note="major polyA site"
     regulatory      3766..3771
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CUL4A"
                     /note="hexamer: AATAAA"
     polyA_site      3788
                     /gene="CUL4A"
     regulatory      5800..5805
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CUL4A"
                     /note="hexamer: AATATA"
     polyA_site      5821
                     /gene="CUL4A"
ORIGIN
        1 ggttccggcc cagccatggc ggacgaggcc ccgcggaagg gcagcttctc ggcgctcgtg
       61 ggccgcacca acggcctcac caagcccgcg gccctggccg ccgcgcccgc caagccgggg
      121 ggcgcgggcg gctccaagaa gctggtcatc aagaacttcc gagacagacc tcggctgccc
      181 gacaactaca cgcaggacac gtggcggaag ctgcacgagg cggtgcgggc cgtgcagagc
      241 agcacctcca tcaggtacaa cctcgaggag ctctaccagg ctgtggaaaa tctctgttct
      301 cacaaagtct ccccaatgct ctacaagcaa ctgcgtcagg cctgtgaaga ccacgtccag
      361 gcacagatcc ttccgtttag agaagactca ctagatagtg ttttattttt aaagaagatt
      421 aacacgtgct ggcaggacca ctgcagacaa atgatcatga tcagaagcat cttcctgttc
      481 ttggaccgca cctatgtgct gcagaactcc acgctgccct ccatctggga tatgggatta
      541 gaactgttta gaacccatat tattagtgat aaaatggttc agagtaaaac cattgatgga
      601 atcctactgc tgatcgagcg cgagaggagc ggcgaggccg tggaccggag cctgttgcgg
      661 agcctcctgg gcatgctgtc tgacctgcag gtgtataaag attcatttga actgaaattt
      721 ttggaagaga ctaattgctt atatgctgcc gaaggccaaa ggttaatgca ggaaagagag
      781 gttccagaat atcttaacca tgtaagtaaa cgcttagagg aagagggaga cagagtaatc
      841 acttacttgg accacagcac acagaaacca ctgattgctt gtgtggagaa acagctatta
      901 ggagaacatt taacagcaat tctgcagaaa gggctcgacc acttactgga tgagaacaga
      961 gtgccggacc tcgcacagat gtaccagctg ttcagccggg tgaggggcgg gcagcaggcg
     1021 ctgctgcagc actggagcga gtacatcaag acttttggaa cagcgatcgt aatcaatcct
     1081 gagaaagaca aagacatggt ccaagacctg ttggacttca aggacaaggt ggaccacgtg
     1141 atcgaggtct gcttccagaa gaatgagcgg ttcgtcaacc tgatgaagga gtcctttgag
     1201 acgttcatca acaagagacc caacaagcct gcagaactga tcgcaaagca tgtggattca
     1261 aagttaagag caggcaacaa agaagccaca gacgaggagc tggagcggac gttggacaag
     1321 atcatgatcc tgttcaggtt tatccacggt aaagatgtct ttgaagcatt ttataaaaaa
     1381 gatttggcaa aaagactcct tgttgggaaa agtgcctcag tcgatgctga aaagtctatg
     1441 ttgtcaaagc tcaagcatga gtgcggtgca gccttcacca gcaagctgga aggcatgttc
     1501 aaggacatgg agctttcgaa ggacatcatg gttcatttca agcagcatat gcagaatcag
     1561 agtgactcag gccctataga cctcacagtg aacatactca caatgggcta ctggccaaca
     1621 tacacgccca tggaagtgca cttaacccca gaaatgatta aacttcagga agtatttaag
     1681 gcattttatc ttggaaagca cagtggtcga aaacttcagt ggcaaactac tttgggacat
     1741 gctgttttaa aagcggagtt taaagaaggg aagaaggaat tccaggtgtc cctcttccag
     1801 acactggtgc tcctcatgtt caacgaggga gatggcttca gctttgagga gataaaaatg
     1861 gccacgggga tagaggatag tgaattgcgc agaacgctgc agtccctggc ctgtggcaaa
     1921 gcacgtgtgc tgattaaaag tcccaaagga aaggaagtgg aagatggaga caagttcatt
     1981 tttaatggag agttcaagca caagttgttt agaataaaga tcaatcaaat tcagatgaag
     2041 gaaactgttg aggaacaggt tagcaccact gagagagtgt ttcaggatag acaatatcag
     2101 attgatgctg ctatcgtcag aataatgaag atgagaaaga ctcttggtca taatcttcta
     2161 gtttctgaat tatataatca gctgaaattt ccagtaaagc ctggagattt gaaaaagaga
     2221 attgaatctc tgatagacag agactatatg gagagagaca aagacaatcc gaatcagtac
     2281 cactacgtgg cctgacgcat ctgcagacgg ttccccttca tgaaacacta gaatgtaccc
     2341 tcagagcagg aagcacacct gtgccatttc tgggactctg attgatccag ctgtggacat
     2401 tggaaggcga aggaagggag gtggctcctg ggtcatcttt cacaaggctc aagacttcaa
     2461 cctgcagatg tatctttttc cctccagttt ttcctctagt tcttttaggc atttaaattg
     2521 tttctgttac tctgtgcaaa ataactttga gattggacaa gaagatgtta ctaaagagaa
     2581 gttcctttaa aaggtcttgt tcttgtgtca aaaagctgca agtttggttt gttctcgtgt
     2641 gtgatcatga gtgcacaatg aagaagaccc tagatgctgc attttttagc tctgaagatt
     2701 ccttaggtat ccctgaagac agctcgctca gatgatcagc atttagagtg aaaacaaggg
     2761 cccttcatgg gtgaacatta gaaagagcca gggttcaaag ctggcgaatg gatgacgcac
     2821 cctagccact ggcccctctc tgtttcatgt atttccaaaa gttgtaaact ttgatggctg
     2881 atttttcgta agtcaggttt ctaagtgagc tccctgaggt gccaaggcca tggtgtccgc
     2941 cctgctgcgt ctgttcgtca gctgagttcc ttgtgaatct ctgttttagg gtttggggct
     3001 agtgtgtttg tgtttccatt ctaagattga gtctggcagt ccctgttttt ttgcattggg
     3061 gtaactgctc tttgattttt tttaattgca gtatttgtgt gattgcaata ataaagtttg
     3121 gtttggtttt tacagtcatg cgcagggacg atccttgttc tctgctgtaa actgtaaaaa
     3181 gtttatggag acttaaagtc ttgatgttgt gaagcagagg ttattttgtg gaaagattaa
     3241 aaggattttg ttggtacctg gttttgtgtt gtgtatatat acatgaggtt gaacagtgaa
     3301 aggaaagttc agtagtgatg ttagaagggt aactatgaca aagatacttt tgagataaca
     3361 tttaaaagta ctttatattt tacataatag catgtttcat tttgattaaa agctaccaaa
     3421 ggaattttga tcatggcata agtgtttaaa gcaatatttt ctggaatata ccaagtttat
     3481 ataatttgat tttgtgctaa attattaaga gtctcttttt gaaacatgcg ggtttgaaat
     3541 atgacacctt gtgggtttcc atattaaaat cctcactctt taattgtcat ttctatcttt
     3601 gaaaattttc atttatgagt tccatgatat gtggtctaag aaagaccaaa cagatttcta
     3661 tttttttttt cttataagtt cgttgtgtct agagattgtt aatattgtaa tttaatgtag
     3721 acttactttg aataaaatta gtttaattgg ccttaaaatt acattaataa aactttgtga
     3781 tatgcaaatg acacattctt cataactctt tagcagcttt gactactagt gcactagaca
     3841 gaagtcagag cagggagcac ctgtcccctc tcaagtgatt attctttcct ggccacctct
     3901 accacaaaat accagtgggg ccaggtagtg acaagtgggt cttttttact tggacgattc
     3961 gttgtgctgt gcctttgttt catttgagca cagtggctca cgcctgtagt cccagctatg
     4021 ggagggcaag gtgggaggat cgtttgagcc tgagttccag accatcctga gcaccatagg
     4081 gagatcctgt ttccatttta gtttatttat ttttaattga ggtggagtct tgctctgttg
     4141 cccaagctgg agtgcagtgg tgcaatctca gctcactgca ccctccgcct cctgggttca
     4201 agcagttctc ccacctcagt ctcccaagta gctgggatta caggcacccg ccatcatgcc
     4261 cagctaatat ttgtattttt gtagagacgg ggtttcacta tgttggccag actggtcttg
     4321 aactcctaac ctcaggtgat ctgcccgcct tggcctccca aagtgctggg attacaggcg
     4381 tgagccacca tgcccggcct gcctgtttct gttttataaa agaaaggaaa atctatttat
     4441 atctattctc ttatttagca atatttaatg ttttattgtt aaaggtcagt gtggtaaaac
     4501 aaatagtata gaagaaatca ttgaaaaaga aacagcactt agacagaaat gctgtaaaag
     4561 tggaaaggag aaggtgaaat tacttgcagg ttagatggtt gcatacccag gtcatctaag
     4621 gagcaaatga aaatctgtga ctgaagaaag aattcaccaa gttaaccaga cacaaaatta
     4681 acaaaaacat cagtagcttt cctataaata taggctataa tggagggtca ttttttattt
     4741 ttatttagag acagggtctt aactgtcacc tggactggag tgcagtggca tgatcatgtt
     4801 tcacggcagc ctctaccttc tgggctcaag cgatcctctc ttctcagcca cctgagtagc
     4861 tgggcctaca ggtgtacatc accacgccca gataattttt attgtatttt ttatagaggc
     4921 agtgtcttgc tatgttgcca aggctgttct tgtactcctg gcctcaagcg aacctcctac
     4981 ctcagcctcc ccaaatgctg ggattacagg catgagacac tgcacctgac cagaagtcat
     5041 tttttcaata gcaaccccca aaaaagataa aatacctagt aacaaatagg gaaacaccta
     5101 tgtgaaaggt attataacat tactaaggaa cacaggccct gaataagtga aagttctgtt
     5161 gattctcaca ttttgctata cagtatctta agatgtaaaa ccttccttta aaacacaagc
     5221 ggattctaaa gttaaaacag aaaagcaaat atgccagact agtcaaattg ttttaaattc
     5281 tgctgttttt agaacattgt aattgaaaca gcatgatgct ggccctttaa aaagattcct
     5341 ggaacaagaa agtccacaaa taagccaaat acacaggaac tcggcgtggc acaaaggggc
     5401 cgtgtgtgat caggaactgg aactttgcaa caactaccca tgctcagaag tttgggccac
     5461 cttgaaaaga gaaaagttgg attagactcc tttttatact aagggaagtt ccaagtggtc
     5521 aagtatttac gtgtaaaaaa atacatatat atgaaaccat aatcataaga tacttttttt
     5581 gtaaattgac tattattgta taaatttata gagtataaag tgatcttata aattatgcat
     5641 acattgtgga ctagtcaagc tagttacatc catcacctca aatacttaac atttttgtag
     5701 tgagaacatc tgaaatttac tcttagcaat tttgaaatgt acaatactca atttttgact
     5761 gtattcacca tgctgtacaa tagaactcag aaaaagaaaa atatagtcct cctttctaag
     5821 a
//
LOCUS       NM_001008938            7172 bp    mRNA    linear   PRI 15-MAY-2023
DEFINITION  Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript
            variant 1, mRNA.
ACCESSION   NM_001008938
VERSION     NM_001008938.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7172)
  AUTHORS   Rajeev R, Mukhopadhyay S, Bhagyanath S, Devu Priya MRS and Manna TK.
  TITLE     TACC3-ch-TOG interaction regulates spindle microtubule assembly by
            controlling centrosomal recruitment of gamma-TuRC
  JOURNAL   Biosci Rep 43 (3) (2023)
   PUBMED   36790370
  REMARK    GeneRIF: TACC3-ch-TOG interaction regulates spindle microtubule
            assembly by controlling centrosomal recruitment of gamma-TuRC.
REFERENCE   2  (bases 1 to 7172)
  AUTHORS   Rossi F, Beltran M, Damizia M, Grelloni C, Colantoni A, Setti A, Di
            Timoteo G, Dattilo D, Centron-Broco A, Nicoletti C, Fanciulli M,
            Lavia P and Bozzoni I.
  TITLE     Circular RNA ZNF609/CKAP5 mRNA interaction regulates microtubule
            dynamics and tumorigenicity
  JOURNAL   Mol Cell 82 (1), 75-89 (2022)
   PUBMED   34942120
  REMARK    GeneRIF: Circular RNA ZNF609/CKAP5 mRNA interaction regulates
            microtubule dynamics and tumorigenicity.
REFERENCE   3  (bases 1 to 7172)
  AUTHORS   Ryan VH, Perdikari TM, Naik MT, Saueressig CF, Lins J, Dignon GL,
            Mittal J, Hart AC and Fawzi NL.
  TITLE     Tyrosine phosphorylation regulates hnRNPA2 granule protein
            partitioning and reduces neurodegeneration
  JOURNAL   EMBO J 40 (3), e105001 (2021)
   PUBMED   33349959
  REMARK    GeneRIF: Tyrosine phosphorylation regulates hnRNPA2 granule protein
            partitioning and reduces neurodegeneration.
REFERENCE   4  (bases 1 to 7172)
  AUTHORS   Herman JA, Miller MP and Biggins S.
  TITLE     chTOG is a conserved mitotic error correction factor
  JOURNAL   Elife 9, e61773 (2020)
   PUBMED   33377866
  REMARK    GeneRIF: chTOG is a conserved mitotic error correction factor.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 7172)
  AUTHORS   Chanez B, Goncalves A, Badache A and Verdier-Pinard P.
  TITLE     Eribulin targets a ch-TOG-dependent directed migration of cancer
            cells
  JOURNAL   Oncotarget 6 (39), 41667-41678 (2015)
   PUBMED   26497677
  REMARK    GeneRIF: Eribulin binding to the tip of microtubules and subsequent
            loss of ch-TOG is a priming event leading to alterations in
            microtubule dynamics and breast cancer cell migration.
REFERENCE   6  (bases 1 to 7172)
  AUTHORS   Lauffart B, Howell SJ, Tasch JE, Cowell JK and Still IH.
  TITLE     Interaction of the transforming acidic coiled-coil 1 (TACC1) protein
            with ch-TOG and GAS41/NuBI1 suggests multiple TACC1-containing
            protein complexes in human cells
  JOURNAL   Biochem J 363 (Pt 1), 195-200 (2002)
   PUBMED   11903063
  REMARK    GeneRIF: Interaction of the transforming acidic coiled-coil 1
            (TACC1) protein with ch-TOG and GAS41/NuBI1 suggests multiple
            TACC1-containing protein complexes in human cells
REFERENCE   7  (bases 1 to 7172)
  AUTHORS   Mayor T, Stierhof YD, Tanaka K, Fry AM and Nigg EA.
  TITLE     The centrosomal protein C-Nap1 is required for cell cycle-regulated
            centrosome cohesion
  JOURNAL   J Cell Biol 151 (4), 837-846 (2000)
   PUBMED   11076968
REFERENCE   8  (bases 1 to 7172)
  AUTHORS   Spittle C, Charrasse S, Larroque C and Cassimeris L.
  TITLE     The interaction of TOGp with microtubules and tubulin
  JOURNAL   J Biol Chem 275 (27), 20748-20753 (2000)
   PUBMED   10770946
REFERENCE   9  (bases 1 to 7172)
  AUTHORS   Charrasse S, Mazel M, Taviaux S, Berta P, Chow T and Larroque C.
  TITLE     Characterization of the cDNA and pattern of expression of a new gene
            over-expressed in human hepatomas and colonic tumors
  JOURNAL   Eur J Biochem 234 (2), 406-413 (1995)
   PUBMED   8536682
REFERENCE   10  (bases 1 to 7172)
  AUTHORS   Golsteyn RM, Mundt KE, Fry AM and Nigg EA.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.45127.1,
            SRR1803612.265289.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000529230.6/ ENSP00000432768.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP282525.1, BC120869.1,
            D43948.1, CB052595.1, BM980015.1 and AC115088.6.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001008938.3.
            Summary: This gene encodes a cytoskeleton-associated protein which
            belongs to the TOG/XMAP215 family. The N-terminal half of this
            protein contains a microtubule-binding domain and the C-terminal
            half contains a KXGS motif for binding tubulin dimers. This protein
            has two distinct roles in spindle formation; it protects
            kinetochore microtubules from depolymerization and plays an
            essential role in centrosomal microtubule assembly. This protein
            may be necessary for the proper interaction of microtubules with
            the cell cortex for directional cell movement. It also plays a role
            in translation of the myelin basic protein (MBP) mRNA by
            interacting with heterogeneous nuclear ribonucleoprotein (hnRNP)
            A2, which associates with MBP. Alternatively spliced transcript
            variants encoding different isoforms have been identified.
            [provided by RefSeq, Aug 2011].
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..7172
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..7172
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="cytoskeleton associated protein 5"
                     /db_xref="GeneID:9793"
                     /db_xref="HGNC:HGNC:28959"
                     /db_xref="MIM:611142"
     misc_feature    78..80
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="upstream in-frame stop codon"
     CDS             99..6197
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="isoform a is encoded by transcript variant 1;
                     colonic and hepatic tumor over-expressed gene protein;
                     colonic and hepatic tumor overexpressed gene protein"
                     /codon_start=1
                     /product="cytoskeleton-associated protein 5 isoform a"
                     /protein_id="NP_001008938.1"
                     /db_xref="CCDS:CCDS31477.1"
                     /db_xref="GeneID:9793"
                     /db_xref="HGNC:HGNC:28959"
                     /db_xref="MIM:611142"
                     /translation="MGDDSEWLKLPVDQKCEHKLWKARLSGYEEALKIFQKIKDEKSPE
                     WSKFLGLIKKFVTDSNAVVQLKGLEAALVYVENAHVAGKTTGEVVSGVVSKVFNQPKAK
                     AKELGIEICLMYIEIEKGEAVQEELLKGLDNKNPKIIVACIETLRKALSEFGSKIILLK
                     PIIKVLPKLFESREKAVRDEAKLIAVEIYRWIRDALRPPLQNINSVQLKELEEEWVKLP
                     TSAPRPTRFLRSQQELEAKLEQQQSAGGDAEGGGDDGDEVPQIDAYELLEAVEILSKLP
                     KDFYDKIEAKKWQERKEALESVEVLIKNPKLEAGDYADLVKALKKVVGKDTNVMLVALA
                     AKCLTGLAVGLRKKFGQYAGHVVPTILEKFKEKKPQVVQALQEAIDAIFLTTTLQNISE
                     DVLAVMDNKNPTIKQQTSLFIARSFRHCTASTLPKSLLKPFCAALLKHINDSAPEVRDA
                     AFEALGTALKVVGEKAVNPFLADVDKLKLDKIKECSEKVELIHGKKAGLAADKKEFKPL
                     PGRTAASGAAGDKDTKDISAPKPGPLKKAPAAKAGGPPKKGKPAAPGGAGNTGTKNKKG
                     LETKEIVEPELSIEVCEEKASAVLPPTCIQLLDSSNWKERLACMEEFQKAVELMDRTEM
                     PCQALVRMLAKKPGWKETNFQVMQMKLHIVALIAQKGNFSKTSAQVVLDGLVDKIGDVK
                     CGNNAKEAMTAIAEACMLPWTAEQVVSMAFSQKNPKNQSETLNWLSNAIKEFGFSGLNV
                     KAFISNVKTALAATNPAVRTAAITLLGVMYLYVGPSLRMFFEDEKPALLSQIDAEFEKM
                     QGQSPPAPTRGISKHSTSGTDEGEDGDEPDDGSNDVVDLLPRTEISDKITSELVSKIGD
                     KNWKIRKEGLDEVAGIINDAKFIQPNIGELPTALKGRLNDSNKILVQQTLNILQQLAVA
                     MGPNIKQHVKNLGIPIITVLGDSKNNVRAAALATVNAWAEQTGMKEWLEGEDLSEELKK
                     ENPFLRQELLGWLAEKLPTLRSTPTDLILCVPHLYSCLEDRNGDVRKKAQDALPFFMMH
                     LGYEKMAKATGKLKPTSKDQVLAMLEKAKVNMPAKPAPPTKATSKPMGGSAPAKFQPAS
                     APAEDCISSSTEPKPDPKKAKAPGLSSKAKSAQGKKMPSKTSLKEDEDKSGPIFIVVPN
                     GKEQRMKDEKGLKVLKWNFTTPRDEYIEQLKTQMSSCVAKWLQDEMFHSDFQHHNKALA
                     VMVDHLESEKEGVIGCLDLILKWLTLRFFDTNTSVLMKALEYLKLLFTLLSEEEYHLTE
                     NEASSFIPYLVVKVGEPKDVIRKDVRAILNRMCLVYPASKMFPFIMEGTKSKNSKQRAE
                     CLEELGCLVESYGMNVCQPTPGKALKEIAVHIGDRDNAVRNAALNTIVTVYNVHGDQVF
                     KLIGNLSEKDMSMLEERIKRSAKRPSAAPIKQVEEKPQRAQNISSNANMLRKGPAEDMS
                     SKLNQARSMSGHPEAAQMVRREFQLDLDEIENDNGTVRCEMPELVQHKLDDIFEPVLIP
                     EPKIRAVSPHFDDMHSNTASTINFIISQVASGDINTSIQALTQIDEVLRQEDKAEAMSG
                     HIDQFLIATFMQLRLIYNTHMADEKLEKDEIIKLYSCIIGNMISLFQIESLAREASTGV
                     LKDLMHGLITLMLDSRIEDLEEGQQVIRSVNLLVVKVLEKSDQTNILSALLVLLQDSLL
                     ATASSPKFSELVMKCLWRMVRLLPDTINSINLDRILLDIHIFMKVFPKEKLKQCKSEFP
                     IRTLKTLLHTLCKLKGPKILDHLTMIDNKNESELEAHLCRMMKHSMDQTGSKSDKETEK
                     GASRIDEKSSKAKVNDFLAEIFKKIGSKENTKEGLAELYEYKKKYSDADIEPFLKNSSQ
                     FFQSYVERGLRVIEMEREGKGRISTSTGISPQMEVTCVPTPTSTVSSIGNTNGEEVGPS
                     VYLERLKILRQRCGLDNTKQDDRPPLTSLLSKPAVPTVASSTDMLHSKLSQLRESREQH
                     QHSDLDSNQTHSSGTVTSSSSTANIDDLKKRLERIKSSRK"
     misc_feature    99..767
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14008.3);
                     Region: TOG 1. /evidence=ECO:0000305|PubMed:24966168"
     misc_feature    240..242
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q14008.3); acetylation site"
     misc_feature    900..1604
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14008.3);
                     Region: TOG 2. /evidence=ECO:0000305|PubMed:24966168"
     misc_feature    1644..1835
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14008.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1860..2549
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14008.3);
                     Region: TOG 3. /evidence=ECO:0000305|PubMed:24966168"
     misc_feature    2529..2651
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14008.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2544..2546
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14008.3); phosphorylation site"
     misc_feature    2631..2633
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14008.3); phosphorylation site"
     misc_feature    2655..3341
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14008.3);
                     Region: TOG 4. /evidence=ECO:0000305|PubMed:24966168"
     misc_feature    3327..3578
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14008.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3675..4382
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14008.3);
                     Region: TOG 5. /evidence=ECO:0000305|PubMed:24966168"
     misc_feature    4362..4427
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14008.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4503..4505
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14008.3); phosphorylation site"
     misc_feature    5499..5564
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14008.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5679..5681
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q14008.3); phosphorylation site"
     misc_feature    5892..5969
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14008.3);
                     Region: Interaction with TACC3.
                     /evidence=ECO:0000269|PubMed:25596274"
     misc_feature    5943..6194
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14008.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      6659..6664
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="hexamer: AATAAA"
     polyA_site      6685
                     /gene="CKAP5"
                     /gene_synonym="ch-TOG; CHTOG; MSPS; TOG; TOGp"
                     /note="major polyA site"
ORIGIN
        1 gcggcggccc aagcggtttc aaacggctta gagcaggccg cttggttctg acccagctga
       61 ggaaatactc ttaattctaa ggaaaacctg gaagcacaat gggagatgac agtgagtggt
      121 tgaaactgcc agttgatcag aaatgtgaac acaagctgtg gaaagcaagg ttaagtgggt
      181 atgaagaggc cctgaagatc ttccagaaaa taaaggatga aaagagccca gagtggtcca
      241 aatttttagg attgatcaaa aaatttgtca ctgattccaa tgcagtggtt caattgaaag
      301 gattagaagc tgcacttgtt tatgttgaaa atgcccatgt agcaggaaaa accacaggag
      361 aagttgtgtc aggtgttgta agtaaggtgt tcaatcaacc taaagctaaa gccaaggagc
      421 tgggcataga gatctgtctt atgtacatag agattgagaa aggagaggct gttcaagaag
      481 agctcctgaa aggcttggac aataagaatc ccaagatcat agtggcctgt atagagacac
      541 tgaggaaagc cttaagtgaa tttggttcca aaatcatctt gcttaagcca attatcaaag
      601 tgttgccaaa actctttgag tctcgagaga aggctgttcg agatgaagcc aaactaattg
      661 ctgtggagat ttacagatgg attcgggatg ctctgagacc cccattacaa aatataaact
      721 ctgttcagtt gaaagaacta gaagaagaat gggtcaaact gccaacaagt gctcctagac
      781 ctactcgatt tcttcgttcc caacaagaac tagaagctaa attggaacaa caacagtctg
      841 ctggtggaga tgctgaagga ggtggtgatg atggtgatga ggtgccacaa atagatgctt
      901 atgagctttt agaagctgta gaaatccttt ccaaacttcc caaagacttt tatgacaaaa
      961 ttgaggcaaa aaaatggcaa gagagaaaag aggccctgga gtctgtagaa gtactaataa
     1021 aaaaccccaa actggaagct ggcgattatg cagatttagt aaaagcatta aagaaggttg
     1081 ttggaaagga caccaatgtc atgttggtgg ctttggcagc aaaatgtctt actggcctgg
     1141 ctgttgggct aaggaagaaa tttggacaat atgcaggaca tgttgtgcca accatcttgg
     1201 agaaattcaa agagaagaaa cctcaagtgg tacaagccct gcaggaggca attgatgcaa
     1261 tcttccttac taccacacta cagaacatca gtgaggatgt tttagcagta atggataata
     1321 aaaatccaac catcaagcag cagacatctc tttttattgc aagaagtttc cgccactgca
     1381 ctgcttctac cctgccaaag agcttgctaa agcccttttg tgctgcacta cttaagcaca
     1441 tcaatgattc tgctcctgaa gtcagagatg ccgcatttga agcattgggt actgctttga
     1501 aggtggttgg cgagaaagca gtaaacccat tcctagctga tgtggacaaa ctcaagcttg
     1561 ataagatcaa agaatgttca gaaaaggtag aactgataca tggtaagaaa gctggactag
     1621 ctgctgataa gaaggaattc aaacctctgc ctggaaggac tgctgcttca ggggctgcag
     1681 gagataagga cacaaaggac atttctgcac ccaaaccagg acctctaaaa aaggcacctg
     1741 ctgctaaggc tggtgggcca ccaaaaaagg ggaaaccagc tgcaccagga ggcgcaggga
     1801 atactggaac caagaacaag aaaggactgg agactaaaga aatagtggag cctgagctct
     1861 cgatagaagt atgtgaagaa aaagcttcag ctgttcttcc ccctacctgt atacagcttc
     1921 ttgacagcag taactggaaa gaaaggctgg cttgtatgga agagttccag aaggctgttg
     1981 agctaatgga ccgaactgaa atgccatgcc aggcattagt gaggatgcta gccaagaaac
     2041 ctggatggaa agaaactaat tttcaggtga tgcaaatgaa gcttcatata gttgctttga
     2101 ttgcccagaa gggaaatttt tccaaaacgt cagctcaggt tgtattagat ggccttgtgg
     2161 acaagattgg agatgtgaaa tgtgggaaca atgcaaaaga agctatgaca gcaatagccg
     2221 aagcctgtat gttaccatgg actgctgaac aggttgtgtc aatggctttc tcacaaaaga
     2281 atcccaaaaa tcagtcagaa actctgaatt ggctatcaaa tgccataaaa gaatttggtt
     2341 tttctgggtt gaatgtcaaa gctttcatta gcaatgtgaa gacagctctt gctgcaacaa
     2401 acccagctgt gaggactgct gccataaccc tgcttggcgt gatgtatctg tatgttggtc
     2461 cctctttgcg aatgttcttt gaggatgaga agcctgccct cctatcccag atagatgcag
     2521 aatttgagaa gatgcaggga caaagtccac ctgctccaac cagaggaatt tccaagcata
     2581 gcacaagtgg tacagatgaa ggagaagatg gagatgaacc agatgacggg agcaatgatg
     2641 tcgttgatct tttgccgagg acggagatca gtgataaaat cacttcagag ttggtatcta
     2701 agattggtga taagaattgg aagattagga aagaaggcct agatgaagtg gcaggtatta
     2761 ttaatgacgc aaaatttatc caaccgaata taggtgaact tccaactgcc ttgaagggtc
     2821 gactcaatga ttcaaataaa atcttggtac agcaaacgct gaatatcctg caacaactgg
     2881 cagtagccat gggcccaaat attaagcaac atgtaaaaaa tttaggcatc cctatcatca
     2941 cagtccttgg agacagcaag aacaatgttc gagctgctgc cctagcgact gtgaatgctt
     3001 gggcagaaca gactggcatg aaggaatggc tggaaggaga agatctttct gaagagctca
     3061 aaaaggaaaa tcctttcttg aggcaagagc ttctgggctg gctggctgag aaactaccta
     3121 ctcttcgttc cacccctaca gaccttatcc tttgtgttcc tcatctctac tcctgcctag
     3181 aagatcgaaa tggagatgtg cgaaagaagg cccaagatgc cttgccattc ttcatgatgc
     3241 atttaggata tgaaaaaatg gccaaggcta ctgggaaact aaagccaact tctaaagatc
     3301 aggtattggc catgctagag aaagccaaag ttaacatgcc agccaagcct gctccaccca
     3361 ctaaagcaac ttctaaacca atgggagggt ccgctccagc caaattccag cctgcatcag
     3421 cacctgctga agattgtatt tccagcagta cagaacccaa acctgatcca aaaaaggcca
     3481 aagctccagg attatcctct aaagcaaaga gtgcacaagg gaagaagatg ccaagcaaaa
     3541 ccagcttaaa ggaggatgaa gacaaatccg ggcctatttt tattgttgtt ccaaatggaa
     3601 aagagcaaag gatgaaagat gaaaaaggat tgaaggtgct aaagtggaat tttactaccc
     3661 cacgggatga atacattgag caactaaaga ctcaaatgtc tagctgtgtg gctaaatggt
     3721 tacaagatga gatgtttcac tcagactttc agcatcataa caaagccctt gctgttatgg
     3781 ttgatcactt ggagagtgaa aaagaaggag ttattggttg cctggatctt atcttaaagt
     3841 ggcttaccct gaggtttttt gacaccaata caagcgtcct gatgaaagca ctagaatatt
     3901 taaaattgct cttcaccttg ctaagtgaag aagaatatca tcttactgag aatgaagcat
     3961 cttccttcat cccctatctt gtcgtcaagg ttggagaacc aaaggatgtc attcgtaaag
     4021 atgttcgtgc catcctgaac cggatgtgcc ttgtctaccc agctagcaag atgtttccct
     4081 ttatcatgga aggaaccaaa tccaaaaact ctaagcagag agcagagtgc ctggaagagc
     4141 tgggatgtct ggttgagtcc tatggcatga atgtttgcca accaacccca ggaaaagcct
     4201 taaaggaaat agctgttcac ataggagacc gtgacaatgc tgtacgcaat gctgcactca
     4261 acaccattgt aacggtgtac aatgtacatg gggatcaggt gttcaaactg attggaaatc
     4321 tttctgaaaa ggatatgagc atgctcgagg agaggattaa gcggtcagca aagagaccct
     4381 ctgctgcacc aataaaacag gtggaagaga aacctcagcg tgcacagaac ataagctcca
     4441 atgccaacat gttacgcaag ggaccagctg aggacatgtc ttccaaactc aaccaagccc
     4501 gaagcatgag tgggcatcct gaggcagccc agatggtccg ccgagaattc cagctggatc
     4561 tagatgagat tgagaatgac aatggtacag tccgatgtga aatgccagaa cttgttcagc
     4621 acaaactgga tgacattttt gagccagtcc ttattcctga acccaagatc cgggctgttt
     4681 ctccacactt cgatgacatg cacagtaata cagcatccac aatcaatttc attatctccc
     4741 aagtagccag tggtgacatc aacacaagta tccaagctct gacacagatc gatgaggtcc
     4801 tgagacagga agacaaagct gaagccatgt ccggccatat tgatcagttt ctgatagcca
     4861 cttttatgca gctaagactc atctacaaca cacacatggc agatgagaaa ttggagaagg
     4921 acgagatcat caagttgtat agctgtatca ttggcaacat gatttcgctg tttcagatag
     4981 agagccttgc ccgggaggcc tccactggag tactaaaaga cctaatgcat ggcctcatca
     5041 ccttaatgct ggattctcgg attgaagatc ttgaggaagg acaacaggtc atccgctctg
     5101 tgaacctctt ggtggtgaag gttctggaga agtcagacca gaccaacatc ctgagtgccc
     5161 tacttgtttt gctccaagac agcctgctag caacagccag ttctcccaaa ttctcagagc
     5221 ttgttatgaa gtgtctctgg agaatggttc gactgttgcc tgataccatc aatagcatta
     5281 acctagacag aattcttctg gatatccaca ttttcatgaa ggtcttcccc aaagagaaac
     5341 tgaagcaatg caaaagtgaa tttcccataa ggaccctaaa gaccctgcta cacaccttat
     5401 gcaaattaaa agggcccaag atcctggacc acctaacgat gatcgacaac aaaaacgagt
     5461 ctgagctgga ggcccatctc tgccggatga tgaagcacag tatggaccag actgggagca
     5521 agtctgataa ggaaacagaa aagggagcat ctcgaataga tgaaaaatca tcaaaggcca
     5581 aagtgaatga tttcttagct gagattttta agaagattgg ctctaaagaa aacactaaag
     5641 agggactagc agagttatat gaatataaga agaaatactc agatgctgac attgaaccat
     5701 ttctgaaaaa ttcctcacag ttcttccaga gctatgtcga aagaggcctt cgggtgattg
     5761 agatggagag ggagggcaaa ggtcgtattt ccacttcaac aggcatctcc cctcagatgg
     5821 aagtcacatg tgtgcccacg cccacaagca cagtgtcctc cataggtaac acaaatgggg
     5881 aagaagtggg gccatctgtc tacttggaaa ggctaaagat cctccgacag cgatgtggtc
     5941 tggacaacac aaagcaagat gaccgacctc ctttgacctc tttgctctcc aaaccagcag
     6001 ttcctactgt cgcctcttcc acagacatgc tccacagcaa actctctcag ctccgggagt
     6061 cacgggagca gcaccagcat tcagacctgg attctaacca gactcactct tcaggaactg
     6121 tgacctcctc ctcctccaca gctaacatag acgacttgaa aaaaagactg gagagaataa
     6181 agagcagtcg caaatgaagc tgccccactc ccccggcacc ctgcagcttt agtttactaa
     6241 actagaagtc ctcatagttt aaaatggcct cagcaggcct agtgtataca aactggttgt
     6301 atgtatcatg ccgtggagct agggggagga gtcattgtgg cacaagtatt tgtacatact
     6361 ctgcttctct ctgtcagcgt cctgctgctc tagaagactg tccgtggatg agtttagtgt
     6421 acagacttgt aaacagctgc cccctctctg ctcagtctag ttcccagatc cttttctttt
     6481 ctttttaatt gctcatttgt aaaattgtcc taatctttcc tagcttttta atagttaata
     6541 ttagaaactc tttaatagtt ttcctttcag tttgtgagct cttctctgtc gccctgaagg
     6601 gtcactgtat tctgtatgaa tgcatggcat gatacaacta atttaagagt cttttataaa
     6661 taaagtttgc attaactata cctgactccc aagatgctcc atatcatgga gtgttgggca
     6721 gcaatttttt aacttttggt accagctggg tattcagcca gttagagaaa ggttaattac
     6781 tgcttacaga gcttcccttt ttcttggctc acagacttgg agctgtcttt tattcctttg
     6841 gaatggaagg aactctcctt ccctgctctc cacaaacagc tcctagggag cagaaaaatc
     6901 tcatccttcc ttgttttgag attttggtca tgatttccct ccaattatca ccagtcgttt
     6961 caagaagctc ttgggcatcc taccactttg ctgaccaaag gcacacaaga ttgcgcccag
     7021 agattggctg ggcttcagtg gttctcacac tacaactaga tttgtgttca tttgactaat
     7081 ggagtttggg aaatcttagt ggtttgctgc ttggttgtat gagtctcttt tggtccaggc
     7141 taacagttgc ttcacattca gtcagagtaa gg
//
LOCUS       NM_001008949            2064 bp    mRNA    linear   PRI 08-JUL-2023
DEFINITION  Homo sapiens ITPRIP like 1 (ITPRIPL1), transcript variant 2, mRNA.
ACCESSION   NM_001008949
VERSION     NM_001008949.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2064)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   2  (bases 1 to 2064)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC073153.1, HY087646.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000439118.3/ ENSP00000389308.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC021188.6, CN263466.1, BC073153.1 and R37132.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 21, 2020 this sequence version replaced NM_001008949.2.
            Transcript Variant: This variant (2) has an alternate 5' sequence,
            as compared to variant 1. The encoded isoform 2 has a distinct and
            shorter N-terminus, as compared to isoform 1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2064
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..2064
                     /gene="ITPRIPL1"
                     /gene_synonym="D1B; KIAA1754L"
                     /note="ITPRIP like 1"
                     /db_xref="GeneID:150771"
                     /db_xref="HGNC:HGNC:29371"
     misc_feature    334..336
                     /gene="ITPRIPL1"
                     /gene_synonym="D1B; KIAA1754L"
                     /note="upstream in-frame stop codon"
     CDS             343..2010
                     /gene="ITPRIPL1"
                     /gene_synonym="D1B; KIAA1754L"
                     /note="isoform 2 is encoded by transcript variant 2;
                     inositol 1,4,5-trisphosphate receptor interacting
                     protein-like 1; inositol 1,4,5-triphosphate
                     receptor-interacting protein-like 1; DANGER family member
                     1B"
                     /codon_start=1
                     /product="inositol 1,4,5-trisphosphate receptor-interacting
                     protein-like 1 isoform 2"
                     /protein_id="NP_001008949.1"
                     /db_xref="CCDS:CCDS46360.1"
                     /db_xref="GeneID:150771"
                     /db_xref="HGNC:HGNC:29371"
                     /translation="MNVDAEASMAVISLLFLAVMYVVHHPLMVSDRMDLDTLARSRQLE
                     KRMSEEMRLLEMEFEERKRAAEQRQKAENFWTGDTSSDQLVLGKKDMGWPFQADGQEGP
                     LGWMLGNLWNTGLFCLFLVFELLRQNMQHEPAFDSSSEEEEEEVRVVPVTSYNWLTDFP
                     SQEALDSFYKHYVQNAIRDLPCTCEFVESFVDDLIEACRVLSRQEAHPQLEDCLGIGAA
                     FEKWGTLHETQKFDILVPIVPPQGTMFVLEMRDPALGRRCGCVLVESECVCKREKLLGD
                     VLCLVHHHRDPSAVLGKCSSSIKAALCTGFHLDVCKTVQWFRNMMGNAWALVAHKYDFK
                     LSLPPSTTSCKLRLDYRSGRFLSIHLVLGVQREDTLVYLVSQAPDQEQLTSVDWPESFV
                     ACEHLFLKLVGRFAPENTCHLKCLQIILSLRQHQSLPHGASRPILTSYHFKTALMHLLL
                     RLPLTDWAHNMLSQRLQDILWFLGRGLQQRSLHHFLIGNNFLPLTIPIPKTFRNAEPVN
                     LFQHLVLNPKAHSQAVEEFQNLLTQVKTLPHAPLAAAP"
ORIGIN
        1 ggacggcggg agcggctgcg gcgcgcgggc gccctcggag ccgcgtgctg ggggtcgtag
       61 gggcccaccg cgctcagcca gacgttcaga cgctcggaca agcatggtct ataacccagg
      121 aaaggggagc agggccactc ccgcgggcgg ccccagcgat gaaccggacg cccccaccct
      181 gccgggaaaa aagcagtggc ggtcaggccg cgctgtctct ttaagatcgt gttcctacta
      241 acactgacgg gctcctagag agggcgggga gacgaagcaa ggccaagttc caaagggagg
      301 ataggcccag ctggcttcag cgtccacacg gcatagtcct tcatgaatgt tgatgcagag
      361 gcctccatgg ctgtgataag cctgctgttc ttggcagtga tgtatgttgt tcaccaccct
      421 ctgatggtca gtgatcggat ggacctggac acattagcca ggagtcggca gctggagaag
      481 cgaatgagtg aggagatgcg cctgctagag atggagtttg aagagagaaa gcgagccgct
      541 gagcagaggc agaaggcaga gaacttctgg acaggagaca catccagtga ccagttagtg
      601 ctggggaaga aagacatggg gtggccgttc caggccgatg gccaggaagg gcctctgggc
      661 tggatgctgg gaaacctgtg gaacactggc ctcttttgcc tttttctcgt ctttgagctc
      721 ctgcgacaga acatgcagca tgaaccggcc tttgattcca gcagtgagga ggaggaggag
      781 gaagtccgtg ttgtccctgt cacctcttac aactggctta ctgacttccc ctcccaggag
      841 gccctggact ccttttacaa acactatgtc caaaatgcca tccgtgacct gccctgcacc
      901 tgtgagtttg tggagagttt tgtggatgat ctcattgagg cctgtcgggt gctcagccgc
      961 caagaggctc acccacaatt ggaagactgc ctgggcatcg gggctgcctt tgagaaatgg
     1021 ggaaccctcc atgagaccca gaaatttgat atcctggtgc ccattgtccc cccacagggc
     1081 accatgtttg tcctggagat gagggaccca gccctgggcc gccgctgtgg ctgtgtgctg
     1141 gtggagtcag aatgtgtgtg caagcgtgag aaactcctag gggacgtgct gtgcctggtg
     1201 caccaccaca gggacccctc ggcagtcttg gggaagtgta gtagctccat caaggcagct
     1261 ctctgcaccg gcttccacct agacgtgtgc aagactgtgc agtggttccg gaacatgatg
     1321 ggcaatgcct gggcccttgt ggcccacaag tatgacttta aactcagtct cccaccgtct
     1381 accacctcct gcaagctccg gctggactat cgctcaggcc gctttctctc aatccacttg
     1441 gtcctggggg tgcaacgaga agacaccttg gtctacctgg tgagtcaggc tcctgaccag
     1501 gagcagctca ccagtgtgga ctggcctgag tcctttgtgg cctgtgagca cctgttcctg
     1561 aagctggtgg ggcgctttgc ccccgagaac acctgtcacc tcaagtgcct ccagatcatt
     1621 ttaagtctcc ggcagcatca gagcttaccc catggagcat cccgccccat cctcacttct
     1681 taccatttta aaacagctct catgcacctc ttgctacggc tgcccctcac ggactgggcc
     1741 cacaacatgc tctctcagcg gctccaggac attctctggt tcttgggccg tggcctccag
     1801 caaaggtccc tccatcattt cctcattggt aacaattttc tgcccctgac catcccaatc
     1861 cctaagacat ttaggaatgc tgagccggtc aatctcttcc aacacctggt gctcaacccc
     1921 aaggcacatt cacaggcagt ggaagagttc caaaaccttc tgacccaggt gaaaactctg
     1981 cctcatgccc cactggctgc agcaccttga tgtaaagacc attaaaaaaa aaacagagga
     2041 aggtatttct aattccttgg gcta
//
LOCUS       NM_001009                741 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S5 (RPS5), mRNA.
ACCESSION   NM_001009
VERSION     NM_001009.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 741)
  AUTHORS   Qiu L, Chao W, Zhong S and Ren AJ.
  TITLE     Eukaryotic Ribosomal Protein S5 of the 40S Subunit: Structure and
            Function
  JOURNAL   Int J Mol Sci 24 (4), 3386 (2023)
   PUBMED   36834797
  REMARK    GeneRIF: Eukaryotic Ribosomal Protein S5 of the 40S Subunit:
            Structure and Function. Review article Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 741)
  AUTHORS   Iizumi Y, Sowa Y, Goi W, Aono Y, Watanabe M, Kurumida Y, Kameda T,
            Akaji K, Kitagawa M and Sakai T.
  TITLE     Stabilization of CDK6 by ribosomal protein uS7, a target protein of
            the natural product fucoxanthinol
  JOURNAL   Commun Biol 5 (1), 564 (2022)
   PUBMED   35681048
  REMARK    GeneRIF: Stabilization of CDK6 by ribosomal protein uS7, a target
            protein of the natural product fucoxanthinol. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 741)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   4  (bases 1 to 741)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 741)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   6  (bases 1 to 741)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   7  (bases 1 to 741)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   8  (bases 1 to 741)
  AUTHORS   Frigerio JM, Dagorn JC and Iovanna JL.
  TITLE     Cloning, sequencing and expression of the L5, L21, L27a, L28, S5,
            S9, S10 and S29 human ribosomal protein mRNAs
  JOURNAL   Biochim Biophys Acta 1262 (1), 64-68 (1995)
   PUBMED   7772601
REFERENCE   9  (bases 1 to 741)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   10  (bases 1 to 741)
  AUTHORS   Mundus DA, Bulygin KN, Yamkovoy VI, Malygin AA, Repkova MN,
            Vratskikh LV, Venijaminova AG, Vladimirov SN and Karpova GG.
  TITLE     Structural arrangement of the codon-anticodon interaction area in
            human placenta ribosomes. Affinity labelling of the 40S subunits by
            derivatives of oligoribonucleotides containing the AUG codon
  JOURNAL   Biochim Biophys Acta 1173 (3), 273-282 (1993)
   PUBMED   8318536
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.100764.1,
            SRR5189658.142489.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000196551.8/ ENSP00000196551.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BG687415.1 and BC015405.1.
            On Nov 23, 2018 this sequence version replaced NM_001009.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S7P family of ribosomal proteins. It is located in the
            cytoplasm. Variable expression of this gene in colorectal cancers
            compared to adjacent normal tissues has been observed, although no
            correlation between the level of expression and the severity of the
            disease has been found. As is typical for genes encoding ribosomal
            proteins, there are multiple processed pseudogenes of this gene
            dispersed through the genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..741
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     gene            1..741
                     /gene="RPS5"
                     /gene_synonym="S5; uS7"
                     /note="ribosomal protein S5"
                     /db_xref="GeneID:6193"
                     /db_xref="HGNC:HGNC:10426"
                     /db_xref="MIM:603630"
     misc_feature    1
                     /gene="RPS5"
                     /gene_synonym="S5; uS7"
                     /note="predominant transcription initiation site"
     misc_feature    43..45
                     /gene="RPS5"
                     /gene_synonym="S5; uS7"
                     /note="upstream in-frame stop codon"
     CDS             73..687
                     /gene="RPS5"
                     /gene_synonym="S5; uS7"
                     /note="40S ribosomal protein S5"
                     /codon_start=1
                     /product="small ribosomal subunit protein uS7"
                     /protein_id="NP_001000.2"
                     /db_xref="CCDS:CCDS12978.1"
                     /db_xref="GeneID:6193"
                     /db_xref="HGNC:HGNC:10426"
                     /db_xref="MIM:603630"
                     /translation="MTEWETAAPAVAETPDIKLFGKWSTDDVQINDISLQDYIAVKEKY
                     AKYLPHSAGRYAAKRFRKAQCPIVERLTNSMMMHGRNNGKKLMTVRIVKHAFEIIHLLT
                     GENPLQVLVNAIINSGPREDSTRIGRAGTVRRQAVDVSPLRRVNQAIWLLCTGAREAAF
                     RNIKTIAECLADELINAAKGSSNSYAIKKKDELERVAKSNR"
     misc_feature    73..75
                     /gene="RPS5"
                     /gene_synonym="S5; uS7"
                     /note="N-acetylmethionine, in 40S ribosomal protein S5,
                     alternate. /evidence=ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P46782.4); acetylation site"
     misc_feature    76..78
                     /gene="RPS5"
                     /gene_synonym="S5; uS7"
                     /note="N-acetylthreonine, in 40S ribosomal protein S5,
                     N-terminally processed. /evidence=ECO:0000269|Ref.6,
                     ECO:0000269|Ref.7, ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:25944712;
                     propagated from UniProtKB/Swiss-Prot (P46782.4);
                     acetylation site"
     misc_feature    112..114
                     /gene="RPS5"
                     /gene_synonym="S5; uS7"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P46782.4); phosphorylation site"
     misc_feature    211..213
                     /gene="RPS5"
                     /gene_synonym="S5; uS7"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P46782.4); acetylation site"
     misc_feature    496..498
                     /gene="RPS5"
                     /gene_synonym="S5; uS7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46782.4); phosphorylation site"
     regulatory      706..711
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS5"
                     /gene_synonym="S5; uS7"
                     /note="hexamer: AATAAA"
     polyA_site      741
                     /gene="RPS5"
                     /gene_synonym="S5; uS7"
                     /note="major polyA site"
ORIGIN
        1 ctcttcctgt ctgtaccagg gcggcgcgtg gtctacgccg agtgacagag acgctcaggc
       61 tgtgttctca ggatgaccga gtgggagaca gcagcaccag cggtggcaga gaccccagac
      121 atcaagctct ttgggaagtg gagcaccgat gatgtgcaga tcaatgacat ttccctgcag
      181 gattacattg cagtgaagga gaagtatgcc aagtacctgc ctcacagtgc agggcggtat
      241 gccgccaaac gcttccgcaa agctcagtgt cccattgtgg agcgcctcac taactccatg
      301 atgatgcacg gccgcaacaa cggcaagaag ctcatgactg tgcgcatcgt caagcatgcc
      361 ttcgagatca tacacctgct cacaggcgag aaccctctgc aggtcctggt gaacgccatc
      421 atcaacagtg gtccccggga ggactccaca cgcattgggc gcgccgggac tgtgagacga
      481 caggctgtgg atgtgtcccc cctgcgccgt gtgaaccagg ccatctggct gctgtgcaca
      541 ggcgctcgtg aggctgcctt ccggaacatt aagaccattg ctgagtgcct ggcagatgag
      601 ctcatcaatg ctgccaaggg ctcctcgaac tcctatgcca ttaagaagaa ggacgagctg
      661 gagcgtgtgg ccaagtccaa ccgctgattt tcccagctgc tgcccaataa acctgtctgc
      721 cctttggggc agtcccagcc a
//
LOCUS       NM_001009184            1858 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens glutamate ionotropic receptor NMDA type subunit
            associated protein 1 (GRINA), transcript variant 2, mRNA.
ACCESSION   NM_001009184
VERSION     NM_001009184.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1858)
  AUTHORS   Yan Z, Li P, Xue Y, Tian H, Zhou T and Zhang G.
  TITLE     Glutamate receptor, ionotropic, N-methyl D-aspartate-associated
            protein 1 promotes colorectal cancer cell proliferation and
            metastasis, and is negatively regulated by miR-296-3p
  JOURNAL   Mol Med Rep 24 (4) (2021)
   PUBMED   34368871
  REMARK    GeneRIF: Glutamate receptor, ionotropic, Nmethyl
            Daspartateassociated protein 1 promotes colorectal cancer cell
            proliferation and metastasis, and is negatively regulated by
            miR2963p.
REFERENCE   2  (bases 1 to 1858)
  AUTHORS   Ma H, Zhang X, Li N, Lu X, Wei Y, Yuan N, Tian G and Li S.
  TITLE     Glutamate receptor, ionotropic, N-methyl D-aspartate-associated
            protein 1, a potential target of miR-296, facilitates proliferation
            and migration of rectal cancer cells
  JOURNAL   Biosci Biotechnol Biochem 84 (10), 2077-2084 (2020)
   PUBMED   32657216
  REMARK    GeneRIF: Glutamate receptor, ionotropic, N-methyl
            D-aspartate-associated protein 1, a potential target of miR-296,
            facilitates proliferation and migration of rectal cancer cells.
REFERENCE   3  (bases 1 to 1858)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1858)
  AUTHORS   Jimenez-Gonzalez V, Ogalla-Garcia E, Garcia-Quintanilla M and
            Garcia-Quintanilla A.
  TITLE     Deciphering GRINA/Lifeguard1: Nuclear Location, Ca2+ Homeostasis and
            Vesicle Transport
  JOURNAL   Int J Mol Sci 20 (16), 4005 (2019)
   PUBMED   31426446
  REMARK    GeneRIF: The cytoplasmic N-terminal half of GRINA (which spans a
            Proline-rich domain) contains a potential DNA-binding sequence, in
            addition to cleavage target sites and probable PY-nuclear
            localization sequences, that may enable it to be released from the
            rest of the protein and enter the nucleus under suitable conditions,
            where it could participate in the transcription, alternative
            splicing, and mRNA export. [review] Review article Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 1858)
  AUTHORS   Rice SJ, Tselepi M, Sorial AK, Aubourg G, Shepherd C, Almarza D,
            Skelton AJ, Pangou I, Deehan D, Reynard LN and Loughlin J.
  TITLE     Prioritization of PLEC and GRINA as Osteoarthritis Risk Genes
            Through the Identification and Characterization of Novel Methylation
            Quantitative Trait Loci
  JOURNAL   Arthritis Rheumatol 71 (8), 1285-1296 (2019)
   PUBMED   30730609
  REMARK    GeneRIF: PLEC encodes plectin, a cytoskeletal protein that maintains
            tissue integrity. GRINA encodes TMBIM3, which regulates cell
            survival. We hypothesized that in a joint predisposed to
            Osteoarthritis (OA), expression of these genes alters to combat
            aberrant biomechanics and is epigenetically regulated. However,
            carriage of the OA risk-conferring allele at this locus hinders this
            response and contributes to disease development.
REFERENCE   6  (bases 1 to 1858)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   7  (bases 1 to 1858)
  AUTHORS   Matsuda A, Suzuki Y, Honda G, Muramatsu S, Matsuzaki O, Nagano Y,
            Doi T, Shimotohno K, Harada T, Nishida E, Hayashi H and Sugano S.
  TITLE     Large-scale identification and characterization of human genes that
            activate NF-kappaB and MAPK signaling pathways
  JOURNAL   Oncogene 22 (21), 3307-3318 (2003)
   PUBMED   12761501
REFERENCE   8  (bases 1 to 1858)
  AUTHORS   Lewis TB, Wood S, Michaelis EK, DuPont BR and Leach RJ.
  TITLE     Localization of a gene for a glutamate binding subunit of a NMDA
            receptor (GRINA) to 8q24
  JOURNAL   Genomics 32 (1), 131-133 (1996)
   PUBMED   8786101
REFERENCE   9  (bases 1 to 1858)
  AUTHORS   Collins C, Duff C, Duncan AM, Planells-Cases R, Sun W, Norremolle A,
            Michaelis E, Montal M, Worton R and Hayden MR.
  TITLE     Mapping of the human NMDA receptor subunit (NMDAR1) and the proposed
            NMDA receptor glutamate-binding subunit (NMDARA1) to chromosomes
            9q34.3 and chromosome 8, respectively
  JOURNAL   Genomics 17 (1), 237-239 (1993)
   PUBMED   8406459
REFERENCE   10  (bases 1 to 1858)
  AUTHORS   Kumar KN, Tilakaratne N, Johnson PS, Allen AE and Michaelis EK.
  TITLE     Cloning of cDNA for the glutamate-binding subunit of an NMDA
            receptor complex
  JOURNAL   Nature 354 (6348), 70-73 (1991)
   PUBMED   1719427
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.337802.1,
            SRR3476690.757968.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000395068.9/ ENSP00000378507.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC109322.16.
            On Nov 23, 2018 this sequence version replaced NM_001009184.1.
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1858
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..1858
                     /gene="GRINA"
                     /gene_synonym="HNRGW; LFG1; NMDARA1; TMBIM3"
                     /note="glutamate ionotropic receptor NMDA type subunit
                     associated protein 1"
                     /db_xref="GeneID:2907"
                     /db_xref="HGNC:HGNC:4589"
                     /db_xref="MIM:138251"
     CDS             169..1284
                     /gene="GRINA"
                     /gene_synonym="HNRGW; LFG1; NMDARA1; TMBIM3"
                     /note="transmembrane BAX inhibitor motif containing 3;
                     glutamate [NMDA] receptor-associated protein 1; glutamate
                     receptor, NMDA subtype, glutamate-binding subunit; putative
                     MAPK-activating protein PM02; NMDA receptor
                     glutamate-binding subunit; transmembrane BAX inhibitor
                     motif-containing protein 3; glutamate receptor, ionotropic,
                     N-methyl D-aspartate-associated protein 1 (glutamate
                     binding); lifeguard 1"
                     /codon_start=1
                     /product="protein lifeguard 1"
                     /protein_id="NP_001009184.1"
                     /db_xref="CCDS:CCDS34961.1"
                     /db_xref="GeneID:2907"
                     /db_xref="HGNC:HGNC:4589"
                     /db_xref="MIM:138251"
                     /translation="MSHEKSFLVSGDNYPPPNPGYPGGPQPPMPPYAQPPYPGAPYPQP
                     PFQPSPYGQPGYPHGPSPYPQGGYPQGPYPQGGYPQGPYPQEGYPQGPYPQGGYPQGPY
                     PQSPFPPNPYGQPQVFPGQDPDSPQHGNYQEEGPPSYYDNQDFPATNWDDKSIRQAFIR
                     KVFLVLTLQLSVTLSTVSVFTFVAEVKGFVRENVWTYYVSYAVFFISLIVLSCCGDFRR
                     KHPWNLVALSVLTASLSYMVGMIASFYNTEAVIMAVGITTAVCFTVVIFSMQTRYDFTS
                     CMGVLLVSMVVLFIFAILCIFIRNRILEIVYASLGALLFTCFLAVDTQLLLGNKQLSLS
                     PEEYVFAALNLYTDIINIFLYILTIIGRAKE"
     misc_feature    169..603
                     /gene="GRINA"
                     /gene_synonym="HNRGW; LFG1; NMDARA1; TMBIM3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z429.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    661..723
                     /gene="GRINA"
                     /gene_synonym="HNRGW; LFG1; NMDARA1; TMBIM3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z429.1);
                     transmembrane region"
     misc_feature    757..819
                     /gene="GRINA"
                     /gene_synonym="HNRGW; LFG1; NMDARA1; TMBIM3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z429.1);
                     transmembrane region"
     misc_feature    850..912
                     /gene="GRINA"
                     /gene_synonym="HNRGW; LFG1; NMDARA1; TMBIM3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z429.1);
                     transmembrane region"
     misc_feature    925..987
                     /gene="GRINA"
                     /gene_synonym="HNRGW; LFG1; NMDARA1; TMBIM3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z429.1);
                     transmembrane region"
     misc_feature    1015..1077
                     /gene="GRINA"
                     /gene_synonym="HNRGW; LFG1; NMDARA1; TMBIM3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z429.1);
                     transmembrane region"
     misc_feature    1087..1149
                     /gene="GRINA"
                     /gene_synonym="HNRGW; LFG1; NMDARA1; TMBIM3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z429.1);
                     transmembrane region"
     misc_feature    1204..1266
                     /gene="GRINA"
                     /gene_synonym="HNRGW; LFG1; NMDARA1; TMBIM3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z429.1);
                     transmembrane region"
     regulatory      1836..1841
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRINA"
                     /gene_synonym="HNRGW; LFG1; NMDARA1; TMBIM3"
                     /note="hexamer: AATAAA"
     polyA_site      1858
                     /gene="GRINA"
                     /gene_synonym="HNRGW; LFG1; NMDARA1; TMBIM3"
                     /note="major polyA site"
ORIGIN
        1 acaaggcccc gctgcgtctt ccgagccgca ggcgcaggcc cagctgagcg gccgccgagc
       61 gggtgcgggt gcgggcgcat cggccatcac cgcgcggccg cgcagcggac accgtgcgta
      121 ccggcctgcg gcgcccggcc accggggcgg accgcggaac ccgaggccat gtcccatgaa
      181 aagagttttt tggtgtctgg ggacaactat cctcccccca accctggata tccggggggg
      241 ccccagccac ccatgccccc ctatgctcag cctccctacc ctggggcccc ttacccacag
      301 ccccctttcc agccctcccc ctacggtcag ccagggtacc cccatggccc cagcccctac
      361 ccccaagggg gctacccaca gggtccctac ccccaagggg gctacccaca gggcccctac
      421 ccacaagagg gctacccaca gggcccctac ccccaagggg gctaccccca ggggccatat
      481 ccccagagcc ccttcccccc caacccctat ggacagccac aggtcttccc aggacaagac
      541 cctgactcac cccagcatgg aaactaccag gaggagggtc ccccatccta ctatgacaac
      601 caggacttcc ctgccaccaa ctgggatgac aagagcatcc gacaggcctt catccgcaag
      661 gtgttcctag tgctgacctt gcagctgtcg gtgaccctgt ccacggtgtc tgtgttcact
      721 tttgttgcgg aggtgaaggg ctttgtccgg gagaatgtct ggacctacta tgtctcctat
      781 gctgtcttct tcatctctct catcgtcctc agctgttgtg gggacttccg gcgaaagcac
      841 ccctggaacc ttgttgcact gtcggtcctg accgccagcc tgtcgtacat ggtggggatg
      901 atcgccagct tctacaacac cgaggcagtc atcatggccg tgggcatcac cacagccgtc
      961 tgcttcaccg tcgtcatctt ctccatgcag acccgctacg acttcacctc atgcatgggc
     1021 gtgctcctgg tgagcatggt ggtgctcttc atcttcgcca ttctctgcat cttcatccgg
     1081 aaccgcatcc tggagatcgt gtacgcctca ctgggcgctc tgctcttcac ctgcttcctc
     1141 gcagtggaca cccagctgct actggggaac aagcagctgt ccctgagccc agaagagtat
     1201 gtgtttgctg cgctgaacct gtacacagac atcatcaaca tcttcctgta catcctcacc
     1261 atcattggcc gcgccaagga gtagccgagc tccagctcgc tgtgcccgct caggtggcac
     1321 ggctggcctg gaccctgccc ctggcacggc agtgccagct gtacttcccc tctctcttgt
     1381 ccccaggcac agcctaggga aaaggatgcc tctctccaac cctcctgtat gtacactgca
     1441 gatacttcca tttggacccg ctgtggccac agcatggccc ctttagtcct cccgcccccg
     1501 ccaaggggca ccaaggccac gtttccgtgc cacctcctgt ctactcattg ttgcatgagc
     1561 cctgtctgcc agcccacccc agggactggg ggcagcacca ggtcccgggg agagggattg
     1621 agccaagagg tgagggtgca cgtcttccct cctgtcccag ctccccagcc tggcgtagag
     1681 cacccctccc ctccccccca cccccctgga gtgctgccct ctggggacat gcggagtggg
     1741 ggtcttatcc ctgtgctgag ccctgagggc agagaggatg gcatgtttca ggggaggggg
     1801 aagccttcct ctcaatttgt tgtcagtgaa attccaataa atgggatttg ctctctgc
//
LOCUS       NM_001009185            6535 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens acyl-CoA synthetase long chain family member 6 (ACSL6),
            transcript variant 2, mRNA.
ACCESSION   NM_001009185
VERSION     NM_001009185.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6535)
  AUTHORS   Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA,
            Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X, Elliott
            KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang B, Rhodes
            D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P, Donovan S,
            Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe F, Todd L,
            Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch C, Rendon A,
            Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras A, Abecasis
            GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M, Rader DJ,
            Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers C, Hinds C,
            Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Elliott P,
            Walsh T, Tenesa A, Fawkes A, Murphy L, Rowan K, Ponting CP, Vitart
            V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry SC, Moutsianas
            L, Law A, Caulfield MJ and Baillie JK.
  CONSRTM   GenOMICC investigators; 23andMe investigators; COVID-19 Human
            Genetics Initiative
  TITLE     Whole-genome sequencing reveals host factors underlying critical
            COVID-19
  JOURNAL   Nature 607 (7917), 97-103 (2022)
   PUBMED   35255492
REFERENCE   2  (bases 1 to 6535)
  AUTHORS   Kurotaki A, Kuwata H and Hara S.
  TITLE     Substrate Specificity of Human Long-Chain Acyl-CoA Synthetase ACSL6
            Variants
  JOURNAL   Biol Pharm Bull 44 (10), 1571-1575 (2021)
   PUBMED   34602568
  REMARK    GeneRIF: Substrate Specificity of Human Long-Chain Acyl-CoA
            Synthetase ACSL6 Variants.
REFERENCE   3  (bases 1 to 6535)
  AUTHORS   Shishikura K, Kuroha S, Matsueda S, Iseki H, Matsui T, Inoue A and
            Arita M.
  TITLE     Acyl-CoA synthetase 6 regulates long-chain polyunsaturated fatty
            acid composition of membrane phospholipids in spermatids and
            supports normal spermatogenic processes in mice
  JOURNAL   FASEB J 33 (12), 14194-14203 (2019)
   PUBMED   31648559
  REMARK    GeneRIF: The results of this study indicate that ACSL6 contributes
            to the local accumulation of docosahexaenoic acid and
            docosapentaenoic acid containing phospholipids in spermatids to
            support normal spermatogenesis
REFERENCE   4  (bases 1 to 6535)
  AUTHORS   Teodoro BG, Sampaio IH, Bomfim LH, Queiroz AL, Silveira LR, Souza
            AO, Fernandes AM, Eberlin MN, Huang TY, Zheng D, Neufer PD,
            Cortright RN and Alberici LC.
  TITLE     Long-chain acyl-CoA synthetase 6 regulates lipid synthesis and
            mitochondrial oxidative capacity in human and rat skeletal muscle
  JOURNAL   J Physiol 595 (3), 677-693 (2017)
   PUBMED   27647415
  REMARK    GeneRIF: ACSL6 drives acyl-CoA toward lipid synthesis and its
            downregulation improves mitochondrial biogenesis, respiratory
            capacity and lipid oxidation
REFERENCE   5  (bases 1 to 6535)
  AUTHORS   Ohkuni A, Ohno Y and Kihara A.
  TITLE     Identification of acyl-CoA synthetases involved in the mammalian
            sphingosine 1-phosphate metabolic pathway
  JOURNAL   Biochem Biophys Res Commun 442 (3-4), 195-201 (2013)
   PUBMED   24269233
REFERENCE   6  (bases 1 to 6535)
  AUTHORS   Murati,A., Adelaide,J., Gelsi-Boyer,V., Etienne,A., Remy,V.,
            Fezoui,H., Sainty,D., Xerri,L., Vey,N., Olschwang,S., Birnbaum,D.,
            Chaffanet,M. and Mozziconacci,M.J.
  TITLE     t(5;12)(q23-31;p13) with ETV6-ACSL6 gene fusion in polycythemia vera
  JOURNAL   Leukemia 20 (6), 1175-1178 (2006)
   PUBMED   16572202
  REMARK    GeneRIF: The t(5;12)(q23-31;p13)translocation with ETV6-ACSL6
            genomic alteration rearrangement in polycythemia vera patients was
            reported.
REFERENCE   7  (bases 1 to 6535)
  AUTHORS   Mashek DG, Bornfeldt KE, Coleman RA, Berger J, Bernlohr DA, Black P,
            DiRusso CC, Farber SA, Guo W, Hashimoto N, Khodiyar V, Kuypers FA,
            Maltais LJ, Nebert DW, Renieri A, Schaffer JE, Stahl A, Watkins PA,
            Vasiliou V and Yamamoto TT.
  TITLE     Revised nomenclature for the mammalian long-chain acyl-CoA
            synthetase gene family
  JOURNAL   J Lipid Res 45 (10), 1958-1961 (2004)
   PUBMED   15292367
REFERENCE   8  (bases 1 to 6535)
  AUTHORS   Malhotra KT, Malhotra K, Lubin BH and Kuypers FA.
  TITLE     Identification and molecular characterization of acyl-CoA synthetase
            in human erythrocytes and erythroid precursors
  JOURNAL   Biochem J 344 Pt 1 (Pt 1), 135-143 (1999)
   PUBMED   10548543
REFERENCE   9  (bases 1 to 6535)
  AUTHORS   Yagasaki F, Jinnai I, Yoshida S, Yokoyama Y, Matsuda A, Kusumoto S,
            Kobayashi H, Terasaki H, Ohyashiki K, Asou N, Murohashi I, Bessho M
            and Hirashima K.
  TITLE     Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and
            acute myelogenous leukemia with t(5;12)(q31;p13)
  JOURNAL   Genes Chromosomes Cancer 26 (3), 192-202 (1999)
   PUBMED   10502316
REFERENCE   10  (bases 1 to 6535)
  AUTHORS   Lehner R and Kuksis A.
  TITLE     Biosynthesis of triacylglycerols
  JOURNAL   Prog Lipid Res 35 (2), 169-201 (1996)
   PUBMED   8944226
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB020644.1, SRR1660805.27911.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
            variant(s)
            MANE Ensembl match          :: ENST00000651883.2/ ENSP00000499063.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA200154.1, AB020644.1,
            AC034228.6 and BM992189.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 31, 2019 this sequence version replaced NM_001009185.2.
            Summary: The protein encoded by this gene catalyzes the formation
            of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a
            cofactor. The encoded protein plays a major role in fatty acid
            metabolism in the brain. Translocations with the ETV6 gene are
            causes of myelodysplastic syndrome with basophilia, acute
            myelogenous leukemia with eosinophilia, and acute eosinophilic
            leukemia. Several transcript variants encoding different isoforms
            have been found for this gene.[provided by RefSeq, Apr 2011].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6535
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..6535
                     /gene="ACSL6"
                     /gene_synonym="ACS2; FACL6; LACS 6; LACS2; LACS5"
                     /note="acyl-CoA synthetase long chain family member 6"
                     /db_xref="GeneID:23305"
                     /db_xref="HGNC:HGNC:16496"
                     /db_xref="MIM:604443"
     CDS             106..2274
                     /gene="ACSL6"
                     /gene_synonym="ACS2; FACL6; LACS 6; LACS2; LACS5"
                     /EC_number="6.2.1.3"
                     /EC_number="6.2.1.15"
                     /note="isoform b is encoded by transcript variant 2;
                     fatty-acid-Coenzyme A ligase, long-chain 6;
                     long-chain-fatty-acid--CoA ligase 6; long fatty acyl-CoA
                     synthetase 2; arachidonate--CoA ligase"
                     /codon_start=1
                     /product="long-chain-fatty-acid--CoA ligase 6 isoform b"
                     /protein_id="NP_001009185.1"
                     /db_xref="CCDS:CCDS34229.1"
                     /db_xref="GeneID:23305"
                     /db_xref="HGNC:HGNC:16496"
                     /db_xref="MIM:604443"
                     /translation="MLTFFLVSGGSLWLFVEFVLSLLEKMQTQEILRILRLPELGDLGQ
                     FFRSLSATTLVSMGALAAILAYWFTHRPKALQPPCNLLMQSEEVEDSGGARRSVIGSGP
                     QLLTHYYDDARTMYQVFRRGLSISGNGPCLGFRKPKQPYQWLSYQEVADRAEFLGSGLL
                     QHNCKACTDQFIGVFAQNRPEWIIVELACYTYSMVVVPLYDTLGPGAIRYIINTADIST
                     VIVDKPQKAVLLLEHVERKETPGLKLIILMDPFEEALKERGQKCGVVIKSMQAVEDCGQ
                     ENHQAPVPPQPDDLSIVCFTSGTTGNPKGAMLTHGNVVADFSGFLKVTEKVIFPRQDDV
                     LISFLPLAHMFERVIQSVVYCHGGRVGFFQGDIRLLSDDMKALCPTIFPVVPRLLNRMY
                     DKIFSQANTPLKRWLLEFAAKRKQAEVRSGIIRNDSIWDELFFNKIQASLGGCVRMIVT
                     GAAPASPTVLGFLRAALGCQVYEGYGQTECTAGCTFTTPGDWTSGHVGAPLPCNHIKLV
                     DVEELNYWACKGEGEICVRGPNVFKGYLKDPDRTKEALDSDGWLHTGDIGKWLPAGTLK
                     IIDRKKHIFKLAQGEYVAPEKIENIYIRSQPVAQIYVHGDSLKAFLVGIVVPDPEVMPS
                     WAQKRGIEGTYADLCTNKDLKKAILEDMVRLGKESGLHSFEQVKAIHIHSDMFSVQNGL
                     LTPTLKAKRPELREYFKKQIEELYSISM"
     regulatory      2583..2588
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACSL6"
                     /gene_synonym="ACS2; FACL6; LACS 6; LACS2; LACS5"
                     /note="hexamer: ATTAAA"
     regulatory      2589..2594
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACSL6"
                     /gene_synonym="ACS2; FACL6; LACS 6; LACS2; LACS5"
                     /note="hexamer: CATAAA"
     polyA_site      2603
                     /gene="ACSL6"
                     /gene_synonym="ACS2; FACL6; LACS 6; LACS2; LACS5"
                     /note="major polyA site"
     polyA_site      2606
                     /gene="ACSL6"
                     /gene_synonym="ACS2; FACL6; LACS 6; LACS2; LACS5"
                     /note="major polyA site"
     regulatory      6511..6516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACSL6"
                     /gene_synonym="ACS2; FACL6; LACS 6; LACS2; LACS5"
                     /note="hexamer: AATAAA"
     polyA_site      6535
                     /gene="ACSL6"
                     /gene_synonym="ACS2; FACL6; LACS 6; LACS2; LACS5"
                     /note="major polyA site"
ORIGIN
        1 agcggcggcg gcggcgcggc tactgctggg gctgctgggc tgcggggctg cggggctgcg
       61 ggtcggggag gccgggccgg gccgggccgg gccccgctga ccgccatgct gaccttcttc
      121 ctcgtgtcgg ggggctccct ctggctattc gtagagtttg tcctctcact tctggagaag
      181 atgcagacac aggagatcct gaggatactg cgactgcctg agctaggtga cttgggacag
      241 tttttccgca gcctctcggc caccaccctc gtgagtatgg gtgccctggc tgccatcctt
      301 gcctactggt tcactcaccg gccaaaggcc ttgcagccgc catgcaacct cctgatgcag
      361 tcagaagaag tagaggacag tggcggggca cggcgatctg tgattgggtc tggccctcag
      421 ctacttaccc actactatga tgatgcccgg accatgtacc aggtgttccg ccgtgggctt
      481 agcatctcag ggaatgggcc ctgtcttggt ttcaggaagc ctaagcagcc ttaccagtgg
      541 ctgtcctacc aggaggtggc cgacagggct gaatttctgg ggtccggact tctccagcac
      601 aattgtaaag catgcactga tcagtttatt ggtgtttttg cacaaaatcg gccagagtgg
      661 atcattgtgg agctggcctg ctacacatat tccatggtgg tggtcccgct ctatgacacc
      721 ctgggccctg gggctatccg ctacatcatc aatacagcgg acatcagcac cgtgattgtg
      781 gacaaacctc agaaggctgt gcttctgcta gagcatgtgg agaggaagga gactccaggc
      841 ctcaagctga tcatcctcat ggacccattc gaagaagccc tgaaagagag agggcagaag
      901 tgcggggtgg tcattaagtc catgcaggcc gtggaggact gtggccaaga gaatcaccag
      961 gctcctgtgc ccccgcagcc tgatgacctc tccattgtgt gtttcacaag cggcacgaca
     1021 gggaacccaa aaggtgcgat gctcacccat gggaacgtgg tggctgattt ctcaggcttt
     1081 ctgaaagtga cagagaaagt gatctttccg agacaggacg atgtgctcat ctccttcctg
     1141 cctctggctc acatgtttga gagagtaatc cagtctgtcg tctattgcca cggagggcgt
     1201 gttggcttct tccagggaga tatccgcctt ctctcagatg acatgaaggc tctatgcccc
     1261 accatcttcc ctgtggtccc acgactgctg aaccggatgt acgacaagat cttcagccag
     1321 gcaaacacac cattaaagcg ctggctcctg gagtttgcag caaagcgtaa gcaagccgag
     1381 gtccggagtg gaatcatcag gaatgatagt atctgggatg aactcttctt taataagatt
     1441 caggccagtc ttggtgggtg tgtgcggatg attgttactg gagcagcccc agcatcacca
     1501 acagttctgg gatttctccg ggcagctcta gggtgccagg tttatgaagg ttatggccaa
     1561 actgagtgca cagctggatg taccttcacc actcctggcg actggacctc agggcacgta
     1621 ggggcgccac ttccctgcaa tcatatcaag ctcgttgatg ttgaggaact gaactactgg
     1681 gcctgcaaag gagagggaga gatatgtgtg agaggaccaa atgtgttcaa aggctacttg
     1741 aaagatccag acaggacgaa ggaggccctg gacagcgatg gctggcttca cactggagac
     1801 atcggaaaat ggctgccggc aggaactctt aaaattattg atcggaaaaa gcatatattt
     1861 aaacttgctc agggagaata tgttgcaccc gagaagattg agaacatcta catccggagc
     1921 caacctgtgg cgcaaatcta tgtccatggg gacagcttaa aggccttttt ggtaggcatt
     1981 gttgtgcctg accctgaagt tatgccctcc tgggcccaga agagaggaat tgaaggaaca
     2041 tatgcagatc tctgcacaaa taaggatctg aagaaagcca ttttggaaga tatggtgagg
     2101 ttaggaaaag aaagtggact ccattctttt gagcaggtta aagccattca catccattct
     2161 gacatgttct cagttcaaaa tggcttgctg acaccaacac taaaagctaa gagacctgag
     2221 ctgagagagt acttcaaaaa acaaatagaa gagctttact caatctccat gtgaagttca
     2281 aggaaagttc ttctcagtgt aatgaactgt ctagcaatat tatagttatt cttgaaagta
     2341 atgagtcaaa atgacacagc tgaaaatgaa taagcatctg attttatgac tgagcctttt
     2401 cctgtcccaa gaggtcttta acaatatttt ctctatcatc aatgagtata ttttattttt
     2461 attataaaaa tgatattgtg gtggactgct aaaaatatca caaatggcaa tgtaaaaatc
     2521 aagacatttt ctcaagaact gtgtaccact aaaagtaata tattgtcaat gttcacagaa
     2581 ctattaaaca taaaggaaaa acataagtga tatattctac ttaattattt gtgaatcagt
     2641 aaccagatgc agcaaatatc taggcaatgt ggactacctc attcagtaac tgattgtcaa
     2701 aatcacaatt aaatcagact tcaaaaatta aagctaggtg tatagaatca tgctaaaaga
     2761 aaacatgata actcatagtc tacgtaactt cagagtcttt aaacatgaca atccacattg
     2821 tcatatgtga aaattttctc tctgattttt actttcattc atgaaaaatg aaaattcaga
     2881 aattcttttt ttcctttttg ttttgagaca gggtctgctc tgtcacctag gctggagtgc
     2941 agtggcttaa tcatggctca ttgcagtctc catctcctgg gctcgagtga tcctcctgtc
     3001 tcacctccca agtagctgag actacagtac aggcacatgc caccacacct ggctaataga
     3061 aatttttttt ttagagattt tgctcaggct ggtctcaaac tcctgagctc aagggatcct
     3121 cccgccttgg cctccctaag tgctaggatt acaggcatga gccattgttc ccagccaaat
     3181 tcagatatta ttaaaacaca tgtcatattt atatagtaac ttacaaagac ctttcaatac
     3241 attttctcat ttattaagct cattaaagta ttcaggaact acctagaaaa aatataatgt
     3301 aaaactattc aaggatagtg tgtgtatgtt catggacttc ttattataat gaattctaaa
     3361 agacatctgt tgactctaca atgaatggat ccttgaggaa tacttgggag aagaaactca
     3421 gagttatttc tcagggtagg cagcaattaa tgtacctaca ttccttgctg gggtcttcta
     3481 gtcttccatt cccaatgtgc ccatgctatg cctggaaacc ctatatggtt gtaattctga
     3541 acaatttcac tttttttcca gtaagaatat caaggcagaa ggtgggaagg aggggacatt
     3601 atttccaggg aaaatagttt ttcaacaata taactttgat aaacctcttt aaaatgcccc
     3661 aagaaaactt tttaagtcca tagacaaaga aatactgcct aatggcataa ttacattcct
     3721 aaaatcttta agcgtgccga agtttaacca ctaaaacctc ctttcttgca ttatgtattt
     3781 agatgcaccc tgtattgggg tgtcaacaat ttcttataat taaaggccag ataccatgga
     3841 cagcaattaa gttccaagct atagattgtg cctctgaaaa aggcatggac cccaggaacg
     3901 tgtttttctt ctgtagagac aagactctaa aagcatatca acaatccata tgcaattcat
     3961 gtgttaattt aaaatgtatg tgctcagtgt ttgtagtcta gaagctcctt tcccttggag
     4021 gaatgccaag cagtttgcaa aaataaatgc tgttagttaa aaaccacata atcacatggg
     4081 cctactgaat aaatatgcat cagtgattat atacttatat ttcagtcttg tcaaaagtga
     4141 atcactgttt catttgatgt atttacccag tctttttatc cagtttttct tgggcatatt
     4201 ctctctgaag acccactgtt gcacttctaa atttgacagt taagaaatga gctagttcta
     4261 tacacactga tttttaaagg cgtttctgaa taaactaata cttaaaatgt ccaaagtcac
     4321 atctgtacag cattagattt ttatatttaa tatatatttg actaattaaa agtgaaagtt
     4381 gttacctgaa ctggatattc atactatttt aagggcaagt tgcttacatt tcaataacaa
     4441 caaaaaaaga atctgtttcc cattgtcctc ctactcaact aaaattcata gttggcttta
     4501 agcccaaaag aattttgaac aatgtgacag aaacaagtaa tgtaaaactt attttgtttt
     4561 atttatactt tataatagtt agatataaca gattatggac aacttaatat ttcttctttt
     4621 tggctgggcg cggtggctca tgcctgtaat cccagcactt tgggaggccg aggcgggcag
     4681 atcacgaagt caggagatcg agaccatcct ggctaacaca gtgaaacccc gtctctacta
     4741 aaaaaataca aaaaattagc cgggcgttgt ggcgggcgcc tgtagtccca gctactcggg
     4801 aggctgaggc aggagaatgg catgaacctg ggaggcggag cttgcagtga gccgagatcc
     4861 cgccactgta ctccagcctg ggcaacagaa cgagactccg tctcaaaaag aaagaaaaaa
     4921 aaaaaacaaa aacaaggttt cttctttttg ccacttaaaa tatcttatat ttctagattt
     4981 ccaggtctat gtggaaatca tcacacttgg gccaataaat gggttagttc agatgtgctg
     5041 agaaaagtaa atagtgtacc ctaaatatct tgcatgtaca tttatctatt tctctgttta
     5101 atgccactta attttgtaag aaatgagaaa tgaaacccta tgtatcagtg gaaaaatcct
     5161 tcttgcttca gatttcccaa ctttattctg gaggagaaaa aaatctgtat ttctcattaa
     5221 cagagataga aaaaggtgat gtacttacga tggtcacatt catattgggc attggatcta
     5281 tttaagccta gaagtataac agataatcag ttccttaagt gtaaatatgt tcttaaatgt
     5341 ttggcctttt tatctgttat tcaaatgtat tagtaattct catattttgc aaacagatcc
     5401 ttttgtgtat attataaaat atataccaaa tctgtttttc cttttgctgt ggaagatgtc
     5461 tttatataat attgagactt cccttgcaaa tgagagacgg gactctggtc aggtatagtg
     5521 tgtaggccta gccccatgta ttaggaactc ataaactcag aaatccaagg attaaacatt
     5581 ttatgtctcc ttcatttatg caagtcatgc tttcattcta catgtagtta aaactacaag
     5641 tatgagaaaa aatagaactt tccattggaa ttttttccaa tcaggtaatg ttttagcaac
     5701 ttgaaatcag cacttaattt gattgtatta cctatcaaag aaccaataac ctttcctttt
     5761 tctgcagtaa agaaaatgaa atatccttta ttttccaaat gtatgaagca caaatgcaat
     5821 atagttattt aaaatataaa atactttaaa atgaatgtga agaatgggaa aatatatttt
     5881 tgcatgaaaa cagactactt acaaatgtgc ttaatatctc aggaaaaaaa gaatgaataa
     5941 ccgtatataa aattggtaaa ctataaattg gctgtatttc cttgccggtt ttaattttaa
     6001 ggaagcattt acatgaaaag aaaaaaggat cctagtagtc tgaatttcct ctcaagtatg
     6061 ctagaaaata ctttctatga atttacaatt aactgcaata agaagtgggt tagcattcaa
     6121 gtaaggtcaa taccccaaat gagaaactct tcagttagaa cacattagtg gttgtaacac
     6181 agaggcagta gataaatatt tgaaatgtga gcatttctaa acttggtacc aaatggaaag
     6241 ggtttcatga ggtgacagtg gcttttaaac attcatttga ccgattattc taattttcct
     6301 tgttaaatca ttgcaacagt tgcatggggg agaatggata ttttttgaag aattgcttat
     6361 tccactttca atttttaaaa atcgagggga ttaaaatatt actttttaaa tatgcataaa
     6421 agtatcttaa ctgtaattac attttcagtt gctttgttat agtagcatgc atattaaata
     6481 taaaatgcat ttatgaaaat ttttgtaaaa aataaaagat ttttcatttc tcaaa
//
LOCUS       NM_001009552            1946 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens protein phosphatase 2 catalytic subunit beta (PPP2CB),
            mRNA.
ACCESSION   NM_001009552
VERSION     NM_001009552.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1946)
  AUTHORS   Jun GR, You Y, Zhu C, Meng G, Chung J, Panitch R, Hu J, Xia W,
            Bennett DA, Foroud TM, Wang LS, Haines JL, Mayeux R, Pericak-Vance
            MA, Schellenberg GD, Au R, Lunetta KL, Ikezu T, Stein TD and Farrer
            LA.
  CONSRTM   Alzheimer's Disease Genetics Consortium
  TITLE     Protein phosphatase 2A and complement component 4 are linked to the
            protective effect of APOE varepsilon2 for Alzheimer's disease
  JOURNAL   Alzheimers Dement 18 (11), 2042-2054 (2022)
   PUBMED   35142023
  REMARK    GeneRIF: Protein phosphatase 2A and complement component 4 are
            linked to the protective effect of APOE varepsilon2 for Alzheimer's
            disease.
REFERENCE   2  (bases 1 to 1946)
  AUTHORS   Sergienko NM, Donner DG, Delbridge LMD, McMullen JR and Weeks KL.
  TITLE     Protein phosphatase 2A in the healthy and failing heart: New
            insights and therapeutic opportunities
  JOURNAL   Cell Signal 91, 110213 (2022)
   PUBMED   34902541
  REMARK    GeneRIF: Protein phosphatase 2A in the healthy and failing heart:
            New insights and therapeutic opportunities. Review article
REFERENCE   3  (bases 1 to 1946)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1946)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 1946)
  AUTHORS   Guo T, Noble W and Hanger DP.
  TITLE     Roles of tau protein in health and disease
  JOURNAL   Acta Neuropathol 133 (5), 665-704 (2017)
   PUBMED   28386764
  REMARK    Review article
REFERENCE   6  (bases 1 to 1946)
  AUTHORS   Goedert M, Cohen ES, Jakes R and Cohen P.
  TITLE     p42 MAP kinase phosphorylation sites in microtubule-associated
            protein tau are dephosphorylated by protein phosphatase 2A1.
            Implications for Alzheimer's disease [corrected]
  JOURNAL   FEBS Lett 312 (1), 95-99 (1992)
   PUBMED   1330687
  REMARK    Erratum:[FEBS Lett 1992 Nov 23;313(2):203]
REFERENCE   7  (bases 1 to 1946)
  AUTHORS   Khew-Goodall Y, Mayer RE, Maurer F, Stone SR and Hemmings BA.
  TITLE     Structure and transcriptional regulation of protein phosphatase 2A
            catalytic subunit genes
  JOURNAL   Biochemistry 30 (1), 89-97 (1991)
   PUBMED   1846293
  REMARK    Erratum:[Biochemistry 1991 May 28;30(21):5328]
REFERENCE   8  (bases 1 to 1946)
  AUTHORS   Pallas DC, Shahrik LK, Martin BL, Jaspers S, Miller TB, Brautigan DL
            and Roberts TM.
  TITLE     Polyoma small and middle T antigens and SV40 small t antigen form
            stable complexes with protein phosphatase 2A
  JOURNAL   Cell 60 (1), 167-176 (1990)
   PUBMED   2153055
REFERENCE   9  (bases 1 to 1946)
  AUTHORS   Virshup DM, Kauffman MG and Kelly TJ.
  TITLE     Activation of SV40 DNA replication in vitro by cellular protein
            phosphatase 2A
  JOURNAL   EMBO J 8 (12), 3891-3898 (1989)
   PUBMED   2555176
REFERENCE   10  (bases 1 to 1946)
  AUTHORS   Arino J, Woon CW, Brautigan DL, Miller TB Jr and Johnson GL.
  TITLE     Human liver phosphatase 2A: cDNA and amino acid sequence of two
            catalytic subunit isotypes
  JOURNAL   Proc Natl Acad Sci U S A 85 (12), 4252-4256 (1988)
   PUBMED   2837763
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC012022.1, X12656.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000221138.9/ ENSP00000221138.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG716837.1, CF594136.1,
            AC009314.4, BC012022.1 and CA419001.1.
            On Nov 23, 2018 this sequence version replaced NM_001009552.1.
            Summary: This gene encodes the phosphatase 2A catalytic subunit.
            Protein phosphatase 2A is one of the four major Ser/Thr
            phosphatases, and it is implicated in the negative control of cell
            growth and division. It consists of a common heteromeric core
            enzyme, which is composed of a catalytic subunit and a constant
            regulatory subunit, that associates with a variety of regulatory
            subunits. This gene encodes a beta isoform of the catalytic
            subunit. [provided by RefSeq, Mar 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1946
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p12"
     gene            1..1946
                     /gene="PPP2CB"
                     /gene_synonym="PP2Abeta; PP2CB"
                     /note="protein phosphatase 2 catalytic subunit beta"
                     /db_xref="GeneID:5516"
                     /db_xref="HGNC:HGNC:9300"
                     /db_xref="MIM:176916"
     misc_feature    41..43
                     /gene="PPP2CB"
                     /gene_synonym="PP2Abeta; PP2CB"
                     /note="upstream in-frame stop codon"
     CDS             398..1327
                     /gene="PPP2CB"
                     /gene_synonym="PP2Abeta; PP2CB"
                     /EC_number="3.1.3.16"
                     /note="PP2A-beta; protein phosphatase type 2A catalytic
                     subunit; protein phosphatase 2, catalytic subunit, beta
                     isozyme; testicular tissue protein Li 146"
                     /codon_start=1
                     /product="serine/threonine-protein phosphatase 2A catalytic
                     subunit beta isoform"
                     /protein_id="NP_001009552.1"
                     /db_xref="CCDS:CCDS6079.1"
                     /db_xref="GeneID:5516"
                     /db_xref="HGNC:HGNC:9300"
                     /db_xref="MIM:176916"
                     /translation="MDDKAFTKELDQWVEQLNECKQLNENQVRTLCEKAKEILTKESNV
                     QEVRCPVTVCGDVHGQFHDLMELFRIGGKSPDTNYLFMGDYVDRGYYSVETVTLLVALK
                     VRYPERITILRGNHESRQITQVYGFYDECLRKYGNANVWKYFTDLFDYLPLTALVDGQI
                     FCLHGGLSPSIDTLDHIRALDRLQEVPHEGPMCDLLWSDPDDRGGWGISPRGAGYTFGQ
                     DISETFNHANGLTLVSRAHQLVMEGYNWCHDRNVVTIFSAPNYCYRCGNQAAIMELDDT
                     LKYSFLQFDPAPRRGEPHVTRRTPDYFL"
     misc_feature    1316..1318
                     /gene="PPP2CB"
                     /gene_synonym="PP2Abeta; PP2CB"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P62715; propagated from
                     UniProtKB/Swiss-Prot (P62714.1); phosphorylation site"
     misc_feature    1322..1324
                     /gene="PPP2CB"
                     /gene_synonym="PP2Abeta; PP2CB"
                     /note="Leucine methyl ester.
                     /evidence=ECO:0000269|PubMed:8206937; propagated from
                     UniProtKB/Swiss-Prot (P62714.1); methylation site"
     regulatory      1921..1926
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP2CB"
                     /gene_synonym="PP2Abeta; PP2CB"
                     /note="hexamer: AATAAA"
     polyA_site      1946
                     /gene="PPP2CB"
                     /gene_synonym="PP2Abeta; PP2CB"
                     /note="major polyA site"
ORIGIN
        1 gagagaaggg gaaagacaag tcgggagagg ccggtaggcg tgaggcgggc ctgaagcggc
       61 agcgggcggc cttcgtccgg cgagagctag gccgaggacc cgcgccgcgc tccccggcac
      121 ctcaccgcgt ccttcaccga ctcccgcggc gcgcggccgg gcggggaagg gcgggcgggg
      181 gtctcctcca ggctgcgcgc tcggagccgc ctgctgggct tgggcggggc gcggggcccg
      241 cggccgccct acccggctca gtcctccccc tgtgggacct ggcgacggcg gcggagggag
      301 aggggagcgg cgcccgggcc ggggccgggg gcgggtgggg aggggggagg gcggcggccg
      361 ggctggggct cgggatccgc atcgggatcg ggccgccatg gacgacaagg cgttcaccaa
      421 ggagctggac cagtgggtcg agcagctgaa cgagtgtaag cagctgaacg agaaccaagt
      481 gcggacgctg tgcgagaagg caaaggaaat tttaacaaaa gaatcaaatg tgcaagaggt
      541 tcgttgccct gttactgtct gtggagatgt gcatggtcaa tttcatgatc ttatggaact
      601 ctttagaatt ggtggaaaat caccggatac aaactactta ttcatgggtg actatgtaga
      661 cagaggatat tattcagtgg agactgtgac tcttcttgta gcattaaagg tgcgttatcc
      721 agaacgcatt acaatattga gaggaaatca cgaaagccga caaattaccc aagtatatgg
      781 cttttatgat gaatgtctgc gaaagtatgg gaatgccaac gtttggaaat attttacaga
      841 tctctttgat tatcttccac ttacagcttt agtagatgga cagatattct gcctccatgg
      901 tggcctctct ccatccatag acacactgga tcatataaga gccctggatc gtttacagga
      961 agttccacat gagggcccaa tgtgtgatct gttatggtca gatccagatg atcgtggtgg
     1021 atggggtatt tcaccacgtg gtgctggcta cacatttgga caagacattt ctgaaacctt
     1081 taaccatgcc aatggtctca cactggtttc tcgtgcccac cagcttgtaa tggagggata
     1141 caattggtgt catgatcgga atgtggttac cattttcagt gcacccaatt actgttatcg
     1201 ttgtgggaac caggctgcta tcatggaatt agatgacact ttaaaatatt ccttccttca
     1261 atttgaccca gcgcctcgtc gtggtgagcc tcatgttaca cggcgcaccc cagactactt
     1321 cctataaatt tctcctggga aacctgcctt tgtatgtgga agtatacctg gctttttaaa
     1381 atatatgtat ttaaaaacaa aaagcaacag taatctatgt gtttctgtaa caaattggga
     1441 tctgtcttgg cattaaacca catcatggac caaatgtgcc atactaatga tgagcattta
     1501 gcacaatttg agactgaaat ttagtacact atgttctagg tcagtctaac agtttgcctg
     1561 ctgtatttat agtaaccatt ttcctttgga ctgttcaagc aaaaaaggta actaactgct
     1621 tcatctcctt ttgcgcttat ttggaaattt tagttatagt gtttaactgg catggattaa
     1681 tagagttgga gttttatttt taagaaaaat tcacaagcta acttccacta atccattatc
     1741 ctttatttta ttgaaatgta taattaactt aactgaagaa aaggttcttc ttgggagtat
     1801 gttgtcataa catttaaaga gatttccctt catttaaact aaattactgt tttatgttga
     1861 tctgcatatt tctgtatatt tgtcatgaca gtgcttgcat cctatttggt gtactcagca
     1921 aataaacttt tcattttaaa caaaaa
//
LOCUS       NM_001009566            4760 bp    mRNA    linear   PRI 23-MAY-2023
DEFINITION  Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.
ACCESSION   NM_001009566
VERSION     NM_001009566.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4760)
  AUTHORS   Jensen TMT, Albertsen L, Bartling CRO, Haugaard-Kedstrom LM and
            Stromgaard K.
  TITLE     Probing the Mint2 Protein-Protein Interaction Network Relevant to
            the Pathophysiology of Alzheimer's Disease
  JOURNAL   Chembiochem (2018) In press
   PUBMED   29578633
  REMARK    Publication Status: Available-Online prior to print
REFERENCE   2  (bases 1 to 4760)
  AUTHORS   Sobu Y, Furukori K, Chiba K, Nairn AC, Kinjo M, Hata S and Suzuki T.
  TITLE     Phosphorylation of multiple sites within an acidic region of
            Alcadein alpha is required for kinesin-1 association and Golgi exit
            of Alcadein alpha cargo
  JOURNAL   Mol Biol Cell 28 (26), 3844-3856 (2017)
   PUBMED   29093024
  REMARK    GeneRIF: Results suggests that APP partially compensates for
            defective Alcalpha in anterograde transport by providing an
            alternative cargo receptor for kinesin-1. Erratum:[Mol Biol Cell.
            2018 Feb 1;29(3):376. PMID: 29382807]
REFERENCE   3  (bases 1 to 4760)
  AUTHORS   Awan Z, Tay ESE, Eyre NS, Wu LE, Beard MR, Boo I, Drummer HE, George
            J and Douglas MW.
  TITLE     Calsyntenin-1 mediates hepatitis C virus replication
  JOURNAL   J Gen Virol 97 (8), 1877-1887 (2016)
   PUBMED   27221318
  REMARK    GeneRIF: Calsyntenin-1 contributes to the early stages of the
            hepatitis C virus replication cycle and the formation of the
            replication complex.
REFERENCE   4  (bases 1 to 4760)
  AUTHORS   Ponomareva OY, Holmen IC, Sperry AJ, Eliceiri KW and Halloran MC.
  TITLE     Calsyntenin-1 regulates axon branching and endosomal trafficking
            during sensory neuron development in vivo
  JOURNAL   J Neurosci 34 (28), 9235-9248 (2014)
   PUBMED   25009257
REFERENCE   5  (bases 1 to 4760)
  AUTHORS   Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Moller RS,
            Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill
            D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL,
            Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I,
            Berkovic SF, Scheffer IE and Mefford HC.
  TITLE     GABRA1 and STXBP1: novel genetic causes of Dravet syndrome
  JOURNAL   Neurology 82 (14), 1245-1253 (2014)
   PUBMED   24623842
REFERENCE   6  (bases 1 to 4760)
  AUTHORS   Araki Y, Kawano T, Taru H, Saito Y, Wada S, Miyamoto K, Kobayashi H,
            Ishikawa HO, Ohsugi Y, Yamamoto T, Matsuno K, Kinjo M and Suzuki T.
  TITLE     The novel cargo Alcadein induces vesicle association of kinesin-1
            motor components and activates axonal transport
  JOURNAL   EMBO J 26 (6), 1475-1486 (2007)
   PUBMED   17332754
REFERENCE   7  (bases 1 to 4760)
  AUTHORS   Konecna A, Frischknecht R, Kinter J, Ludwig A, Steuble M, Meskenaite
            V, Indermuhle M, Engel M, Cen C, Mateos JM, Streit P and Sonderegger
            P.
  TITLE     Calsyntenin-1 docks vesicular cargo to kinesin-1
  JOURNAL   Mol Biol Cell 17 (8), 3651-3663 (2006)
   PUBMED   16760430
REFERENCE   8  (bases 1 to 4760)
  AUTHORS   Araki Y, Miyagi N, Kato N, Yoshida T, Wada S, Nishimura M, Komano H,
            Yamamoto T, De Strooper B, Yamamoto K and Suzuki T.
  TITLE     Coordinated metabolism of Alcadein and amyloid beta-protein
            precursor regulates FE65-dependent gene transactivation
  JOURNAL   J Biol Chem 279 (23), 24343-24354 (2004)
   PUBMED   15037614
  REMARK    GeneRIF: Alcadein and amyloid beta-protein precursor regulates
            FE65-dependent gene transactivation [alcalpha1, alcbeta, alcgamma]
REFERENCE   9  (bases 1 to 4760)
  AUTHORS   Araki Y, Tomita S, Yamaguchi H, Miyagi N, Sumioka A, Kirino Y and
            Suzuki T.
  TITLE     Novel cadherin-related membrane proteins, Alcadeins, enhance the
            X11-like protein-mediated stabilization of amyloid beta-protein
            precursor metabolism
  JOURNAL   J Biol Chem 278 (49), 49448-49458 (2003)
   PUBMED   12972431
REFERENCE   10  (bases 1 to 4760)
  AUTHORS   Vogt L, Schrimpf SP, Meskenaite V, Frischknecht R, Kinter J, Leone
            DP, Ziegler U and Sonderegger P.
  TITLE     Calsyntenin-1, a proteolytically processed postsynaptic membrane
            protein with a cytoplasmic calcium-binding domain
  JOURNAL   Mol Cell Neurosci 17 (1), 151-166 (2001)
   PUBMED   11161476
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB020718.1, SRR14038191.1850088.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000377298.9/ ENSP00000366513.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL357140.33 and AL691449.21.
            On Jul 26, 2019 this sequence version replaced NM_001009566.2.
            Summary: This gene is a member of the calsyntenin family, a subset
            of the cadherin superfamily. The encoded transmembrane protein,
            also known as alcadein-alpha, is thought to bind to kinesin-1
            motors to mediate the axonal anterograde transport of certain types
            of vesicle. Amyloid precursor protein (APP) is trafficked via these
            vesicles and so this protein is being investigated to see how it
            might contribute to the mechanisms underlying Alzheimer's disease.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Nov 2014].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4760
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     gene            1..4760
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /note="calsyntenin 1"
                     /db_xref="GeneID:22883"
                     /db_xref="HGNC:HGNC:17447"
                     /db_xref="MIM:611321"
     misc_feature    5..7
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /note="upstream in-frame stop codon"
     CDS             233..3178
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; cadherin-related family member 12; non-classical
                     cadherin XB31alpha; alzheimer-related cadherin-like
                     protein; alcadein-alpha"
                     /codon_start=1
                     /product="calsyntenin-1 isoform 1 precursor"
                     /protein_id="NP_001009566.1"
                     /db_xref="CCDS:CCDS30580.1"
                     /db_xref="GeneID:22883"
                     /db_xref="HGNC:HGNC:17447"
                     /db_xref="MIM:611321"
                     /translation="MLRRPAPALAPAARLLLAGLLCGGGVWAARVNKHKPWLEPTYHGI
                     VTENDNTVLLDPPLIALDKDAPLRFAESFEVTVTKEGEICGFKIHGQNVPFDAVVVDKS
                     TGEGVIRSKEKLDCELQKDYSFTIQAYDCGKGPDGTNVKKSHKATVHIQVNDVNEYAPV
                     FKEKSYKATVIEGKQYDSILRVEAVDADCSPQFSQICSYEIITPDVPFTVDKDGYIKNT
                     EKLNYGKEHQYKLTVTAYDCGKKRATEDVLVKISIKPTCTPGWQGWNNRIEYEPGTGAL
                     AVFPNIHLETCDEPVASVQATVELETSHIGKGCDRDTYSEKSLHRLCGAAAGTAELLPS
                     PSGSLNWTMGLPTDNGHDSDQVFEFNGTQAVRIPDGVVSVSPKEPFTISVWMRHGPFGR
                     KKETILCSSDKTDMNRHHYSLYVHGCRLIFLFRQDPSEEKKYRPAEFHWKLNQVCDEEW
                     HHYVLNVEFPSVTLYVDGTSHEPFSVTEDYPLHPSKIETQLVVGACWQEFSGVENDNET
                     EPVTVASAGGDLHMTQFFRGNLAGLTLRSGKLADKKVIDCLYTCKEGLDLQVLEDSGRG
                     VQIQAHPSQLVLTLEGEDLGELDKAMQHISYLNSRQFPTPGIRRLKITSTIKCFNEATC
                     ISVPPVDGYVMVLQPEEPKISLSGVHHFARAASEFESSEGVFLFPELRIISTITREVEP
                     EGDGAEDPTVQESLVSEEIVHDLDTCEVTVEGEELNHEQESLEVDMARLQQKGIEVSSS
                     ELGMTFTGVDTMASYEEVLHLLRYRNWHARSLLDRKFKLICSELNGRYISNEFKVEVNV
                     IHTANPMEHANHMAAQPQFVHPEHRSFVDLSGHNLANPHPFAVVPSTATVVIVVCVSFL
                     VFMIILGVFRIRAAHRRTMRDQDTGKENEMDWDDSALTITVNPMETYEDQHSSEEEEEE
                     EEEEESEDGEEEDDITSAESESSEEEEGEQGDPQNATRQQQLEWDDSTLSY"
     sig_peptide     233..316
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     317..3175
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /product="Calsyntenin-1. /id=PRO_0000004021"
                     /note="propagated from UniProtKB/Swiss-Prot (O94985.1)"
     mat_peptide     317..2707
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /product="Soluble Alc-alpha.
                     /evidence=ECO:0000305|PubMed:15037614. /id=PRO_0000323597"
                     /note="propagated from UniProtKB/Swiss-Prot (O94985.1)"
     misc_feature    1268..1270
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O94985.1); glycosylation site"
     misc_feature    1328..1330
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O94985.1); glycosylation site"
     misc_feature    1775..1777
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O94985.1); glycosylation site"
     misc_feature    2702..2707
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /note="Cleavage. /evidence=ECO:0000250|UniProtKB:Q6Q0N0;
                     propagated from UniProtKB/Swiss-Prot (O94985.1); cleavage
                     site"
     mat_peptide     2708..3175
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /product="CTF1-alpha.
                     /evidence=ECO:0000305|PubMed:15037614. /id=PRO_0000323598"
                     /note="propagated from UniProtKB/Swiss-Prot (O94985.1)"
     misc_feature    2789..2794
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /note="Cleavage. /evidence=ECO:0000250|UniProtKB:Q6Q0N0;
                     propagated from UniProtKB/Swiss-Prot (O94985.1); cleavage
                     site"
     misc_feature    2810..2872
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /note="propagated from UniProtKB/Swiss-Prot (O94985.1);
                     transmembrane region"
     misc_feature    2975..3175
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /note="propagated from UniProtKB/Swiss-Prot (O94985.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4638..4643
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /note="hexamer: AATAAA"
     polyA_site      4660
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /note="major polyA site"
     regulatory      4740..4745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
                     /note="hexamer: CATAAA"
     polyA_site      4760
                     /gene="CLSTN1"
                     /gene_synonym="ALC-ALPHA; alcalpha1; alcalpha2; CDHR12;
                     CST-1; CSTN1; PIK3CD; XB31alpha"
ORIGIN
        1 atcttagttg ctgccgctgc cttcagcaag acgctgctct gaggcgggga gggcgccgcg
       61 tcctgagcgc gcggcccagc gtcacggcgg cggcggcggc ggctcctcct tggacccccg
      121 gagctccccg cgccgcggag cagctagccc caggccccta gagccccgag agctccgaga
      181 gctccgctcg gcgtcccgcg cgcctccctg ccgctcccgc cccgggctgg cgatgctgcg
      241 ccgccccgct cccgcgctgg ccccggccgc ccggctgctg ctggccgggc tgctgtgcgg
      301 cggcggggtc tgggccgcgc gagttaacaa gcacaagccc tggctggagc ccacctacca
      361 cggcatagtc acagagaacg acaacaccgt gctcctcgac cccccactga tcgcgctgga
      421 taaagatgcg cctctgcgat ttgcagagag ttttgaggtg acagtcacca aagaaggtga
      481 gatttgtgga tttaaaattc acgggcagaa tgtccccttt gatgcagtgg tagtggataa
      541 atccactggt gagggagtca ttcgctccaa agagaaactg gactgtgagc tgcagaaaga
      601 ctattcattc accatccagg cctatgattg tgggaaggga cctgatggca ccaacgtgaa
      661 aaagtctcat aaagcaactg ttcatattca ggtgaacgac gtgaatgagt acgcgcccgt
      721 gttcaaggag aagtcctaca aagccacggt catcgagggg aagcagtacg acagcatttt
      781 gagggtggag gccgtggatg ccgactgctc ccctcagttc agccagattt gcagctacga
      841 aatcatcact ccagacgtgc cctttactgt tgacaaagat ggttatataa aaaacacaga
      901 gaaattaaac tacgggaaag aacatcaata taagctgacc gtcactgcct atgactgtgg
      961 gaagaaaaga gccacagaag atgttttggt gaagatcagc attaagccca cctgcacccc
     1021 tgggtggcaa ggatggaaca acaggattga gtatgagccg ggcaccggcg cgttggccgt
     1081 ctttccaaat atccacctgg agacatgtga cgagccagtc gcctcagtac aggccacagt
     1141 ggagctagaa accagccaca tagggaaagg ctgcgaccga gacacctact cagagaagtc
     1201 cctccaccgg ctctgtggtg cggccgcggg cactgccgag ctgctgccat ccccgagtgg
     1261 atccctcaac tggaccatgg gcctgcccac cgacaatggc cacgacagcg accaggtgtt
     1321 tgagttcaac ggcacccagg cagtgaggat cccggatggc gtcgtgtcgg tcagccccaa
     1381 agagccgttc accatctcgg tgtggatgag acatgggcca ttcggcagga agaaggagac
     1441 aattctttgc agttctgata aaacagatat gaatcggcac cactactccc tctatgtcca
     1501 cgggtgccgg ctgatcttcc tcttccgtca ggatccttct gaggagaaga aatacagacc
     1561 tgcagagttc cactggaagt tgaatcaggt ctgtgatgag gaatggcacc actacgtcct
     1621 caatgtagaa ttcccgagtg tgactctcta tgtggatggc acgtcccacg agcccttctc
     1681 tgtgactgag gattacccgc tccatccatc caagatagaa actcagctcg tggtgggggc
     1741 ttgctggcaa gagttttcag gagttgaaaa tgacaatgaa actgagcctg tgactgtggc
     1801 ctctgcaggt ggcgacctgc acatgaccca gtttttccga ggcaatctgg ctggcttaac
     1861 tctccgttcc gggaaactcg cggataagaa ggtgatcgac tgtctgtata cctgcaagga
     1921 ggggctggac ctgcaggtcc tcgaagacag tggcagaggc gtgcagatcc aagcacaccc
     1981 cagccagttg gtattgacct tggagggaga agacctcggg gaattggata aggccatgca
     2041 gcacatctcg tacctgaact cccggcagtt ccccacgccc ggaattcgca gactcaaaat
     2101 caccagcaca atcaagtgtt ttaacgaggc cacctgcatt tcggtccccc cggtagatgg
     2161 ctacgtgatg gttttacagc ccgaggagcc caagatcagc ctgagtggcg tccaccattt
     2221 tgcccgagca gcttctgaat ttgaaagctc agaaggggtg ttccttttcc ctgagcttcg
     2281 catcatcagc accatcacga gagaagtgga gcctgaaggg gacggggctg aggaccccac
     2341 agttcaagaa tcactggtgt ccgaggagat cgtgcacgac ctggatacct gtgaggtcac
     2401 ggtggaggga gaggagctga accacgagca ggagagcctg gaggtggaca tggcccgcct
     2461 gcagcagaag ggcattgaag tgagcagctc tgaactgggc atgaccttca caggcgtgga
     2521 caccatggcc agctacgagg aggttttgca cctgctgcgc tatcggaact ggcatgccag
     2581 gtccttgctt gaccggaagt ttaagctcat ctgctcagag ctgaatggcc gctacatcag
     2641 caacgaattt aaggtggagg tgaatgtaat ccacacggcc aaccccatgg aacacgccaa
     2701 ccacatggct gcccagccac agttcgtgca cccggaacac cgctcctttg ttgacctgtc
     2761 aggccacaac ctggccaacc cccacccgtt cgcagtcgtc cccagcactg cgacagttgt
     2821 gatcgtggtg tgcgtcagct tcctggtgtt catgattatc ctgggggtat ttcggatccg
     2881 ggccgcacat cggcggacca tgcgggatca ggacaccggg aaggagaacg agatggactg
     2941 ggacgactct gccctgacca tcaccgtcaa ccccatggag acctatgagg accagcacag
     3001 cagtgaggag gaggaggaag aggaagagga agaggaaagc gaggacggcg aagaagagga
     3061 tgacatcacc agcgccgagt cggagagcag cgaggaggag gagggggagc agggcgaccc
     3121 ccagaacgca acccggcagc agcagctgga gtgggatgac tccaccctca gctactgacc
     3181 cgtgcccccg gccacctcgg tttctgcttt cgaagactct gctgccatcc gttctcccag
     3241 tcccaagggt ccacgatgta caaagtcatt tcggccagta ggtgtgcaga cccctccccg
     3301 ccacgatcgt cgctgtgctt ggtgtgtagg accctaggct ccccgcccac cctctgcctg
     3361 gtcgcgctct tcagtcccac gaggagctga cacgtcctct ctggccgcca tccggctcgc
     3421 acaggggcct cccagcgcct caggccccgc gtttgtgtct ggagtctccc cccggggaga
     3481 ggacactggc ccctcgcact ccagaaaagc catgccagct gggctcgttg acaaagggta
     3541 aaacatgctc actcccaccc ggtaatcatt tttttctttt tttaaaaaaa gtttttattt
     3601 tttccaaact agtgcatgta taaataatgg caggatgggg ggtactgtgt agatgattaa
     3661 ctgacttttt aatattttgt aaataaatcg gattccttgt gtcctttgtg ctagtgtaac
     3721 ccgggactgg aatgtaaagt gaagttcgga gctctgagca cgggctcttc ccgccgggtc
     3781 ctccctcccc agaccccaga gggagaggcc caccccgccc agccccgccc cagcccctgc
     3841 tcaggtctga gtatggctgg gagtcggggg ccacaggcct ctagctgtgc tgctcaagag
     3901 actggatcag ggtagctaca agtggccggg ccttgccttt gggattctac ctgttcctaa
     3961 tttggtgtgg ggtgcggggt ccctggcccc ttttccacac tcctcctccg acagcagctc
     4021 cctgggcagt ggcctggtct caccgtgtgc agccttgtgg tttatgctta aatgtacatt
     4081 ttcctgctgg taaaaggaga aactgagagg tgtcctgcag accggctgac cactcctttt
     4141 ggagacggca ggaggcctga gcgatccgta ctcagaacgt ccaggagaga cgcatggccc
     4201 gaagtcaaag tgctggaatt ttccaaaaca gcctgttctc tcctctctcc tccccagagc
     4261 accccctgcc atcagggggg ttgaaatccc tctcccccag gagccctgct gctttgcttg
     4321 gtggtagggc aggagagcaa acaaacagtc atggtctaaa acccacatag cactttgctc
     4381 ttagttacat gtaaaatttt agatttctaa aacaggtggg caatcatttt gaatactgtt
     4441 ctgtgaccct gactgctagt tctgaggaca ctggtggctg tgctatgtgt ggccatcctc
     4501 catgtcccgt ccctgtagct gctctgttta gacagcggac agacgctcac gcccagggga
     4561 tgtcctcacg ctgtcgccgc gcggtttccc ttcgcagatg tgtatactca tgataggtca
     4621 gaaagtgtat ccgctacaat aaagttctgg ttctaactaa ctccagccgg agcggggttt
     4681 gtcttctctc ctgttttggt tttaaaccta cactcccttg tttctttttg agccgagaac
     4741 ataaaagaac ataaaaaggc
//
LOCUS       NM_001009606            1236 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens heparan sulfate-glucosamine 3-sulfotransferase 6
            (HS3ST6), mRNA.
ACCESSION   NM_001009606
VERSION     NM_001009606.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1236)
  AUTHORS   Xu D, Tiwari V, Xia G, Clement C, Shukla D and Liu J.
  TITLE     Characterization of heparan sulphate 3-O-sulphotransferase isoform 6
            and its role in assisting the entry of herpes simplex virus type 1
  JOURNAL   Biochem J 385 (Pt 2), 451-459 (2005)
   PUBMED   15303968
REFERENCE   2  (bases 1 to 1236)
  AUTHORS   Chen J, Duncan MB, Carrick K, Pope RM and Liu J.
  TITLE     Biosynthesis of 3-O-sulfated heparan sulfate: unique substrate
            specificity of heparan sulfate 3-O-sulfotransferase isoform 5
  JOURNAL   Glycobiology 13 (11), 785-794 (2003)
   PUBMED   12907690
REFERENCE   3  (bases 1 to 1236)
  AUTHORS   Mochizuki H, Yoshida K, Gotoh M, Sugioka S, Kikuchi N, Kwon YD,
            Tawada A, Maeyama K, Inaba N, Hiruma T, Kimata K and Narimatsu H.
  TITLE     Characterization of a heparan sulfate 3-O-sulfotransferase-5, an
            enzyme synthesizing a tetrasulfated disaccharide
  JOURNAL   J Biol Chem 278 (29), 26780-26787 (2003)
   PUBMED   12740361
REFERENCE   4  (bases 1 to 1236)
  AUTHORS   Xia G, Chen J, Tiwari V, Ju W, Li JP, Malmstrom A, Shukla D and Liu
            J.
  TITLE     Heparan sulfate 3-O-sulfotransferase isoform 5 generates both an
            antithrombin-binding site and an entry receptor for herpes simplex
            virus, type 1
  JOURNAL   J Biol Chem 277 (40), 37912-37919 (2002)
   PUBMED   12138164
  REMARK    GeneRIF: generates both an antithrombin-binding site and an entry
            receptor for herpes simplex virus, type 1
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279850.3111.1, DY654407.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000454677.3/ ENSP00000416741.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL031723.56, DY654407.1 and CK300523.1.
            On May 23, 2019 this sequence version replaced NM_001009606.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on RNA-seq data and orthologous
            transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1236
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1236
                     /gene="HS3ST6"
                     /gene_synonym="3-OST-6; 3OST6; HAE8; HS3ST5"
                     /note="heparan sulfate-glucosamine 3-sulfotransferase 6"
                     /db_xref="GeneID:64711"
                     /db_xref="HGNC:HGNC:14178"
                     /db_xref="MIM:619210"
     misc_feature    42..44
                     /gene="HS3ST6"
                     /gene_synonym="3-OST-6; 3OST6; HAE8; HS3ST5"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MRARLLPPLPGLERRDP"
     CDS             93..1121
                     /gene="HS3ST6"
                     /gene_synonym="3-OST-6; 3OST6; HAE8; HS3ST5"
                     /EC_number="2.8.2.23"
                     /note="heparan sulfate (glucosamine) 3-O-sulfotransferase
                     5; heparan sulphate D-glucosaminyl 3-O-sulfotransferase-3B
                     like; heparan sulfate D-glucosaminyl 3-O-sulfotransferase
                     6; heparan sulfate (glucosamine) 3-O-sulfotransferase 6"
                     /codon_start=1
                     /product="heparan sulfate glucosamine 3-O-sulfotransferase
                     6"
                     /protein_id="NP_001009606.3"
                     /db_xref="CCDS:CCDS45381.2"
                     /db_xref="GeneID:64711"
                     /db_xref="HGNC:HGNC:14178"
                     /db_xref="MIM:619210"
                     /translation="MAGSGGLGGGAGGGQGAGAGQGAALRASRAPMLLVALVLGAYCLC
                     ALPGRCPPAARAPAPAPAPSEPSSSVHRPGAPGLPLASGPGRRRFPQALIVGVKKGGTR
                     ALLEFLRLHPDVRALGSEPHFFDRCYERGLAWYRSLMPRTLDGQITMEKTPSYFVTREA
                     PRRIHAMSPDTKLIVVVRNPVTRAISDYAQTLSKTPGLPSFRALAFRHGLGPVDTAWSA
                     VRIGLYAQHLDHWLRYFPLSHFLFVSGERLVSDPAGEVGRVQDFLGLKRVVTDKHFYFN
                     ATKGFPCLKKAQGGSRPRCLGKSKGRPHPRVPQALVRRLQEFYRPFNRRFYQMTGQDFG
                     WG"
     misc_feature    93..155
                     /gene="HS3ST6"
                     /gene_synonym="3-OST-6; 3OST6; HAE8; HS3ST5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QI5.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    186..239
                     /gene="HS3ST6"
                     /gene_synonym="3-OST-6; 3OST6; HAE8; HS3ST5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QI5.2);
                     transmembrane region"
     misc_feature    255..347
                     /gene="HS3ST6"
                     /gene_synonym="3-OST-6; 3OST6; HAE8; HS3ST5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QI5.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    933..935
                     /gene="HS3ST6"
                     /gene_synonym="3-OST-6; 3OST6; HAE8; HS3ST5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96QI5.2); glycosylation site"
     regulatory      1218..1223
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HS3ST6"
                     /gene_synonym="3-OST-6; 3OST6; HAE8; HS3ST5"
                     /note="hexamer: AATAAA"
     polyA_site      1236
                     /gene="HS3ST6"
                     /gene_synonym="3-OST-6; 3OST6; HAE8; HS3ST5"
                     /note="major polyA site"
ORIGIN
        1 acaagccggg cacccacgga ctgagcggcg cgcgggccga gatgcgcgcc cgcctgctgc
       61 ccccgctccc gggcctggag cggcgcgacc ccatggcagg tagcggcggc ctgggcggcg
      121 gggccggggg cggccagggc gcaggggccg ggcaaggggc cgctctgcgg gcgtcccgcg
      181 cgccgatgct gctcgtggcc ctggtgctcg gcgcctactg cctctgcgcc ctccccggcc
      241 gctgcccgcc ggccgcccgc gcccccgcgc cggcccccgc gccctccgag ccgtccagct
      301 ccgtccaccg cccgggagca cccggcctgc ctttggccag cggtcccggc cgccggcgct
      361 tcccgcaagc gctcatcgtt ggcgtgaaga agggcggcac gcgcgccctg ctggagtttc
      421 tgcggctgca ccccgacgtc cgcgcgctgg gctctgagcc ccacttcttc gacaggtgct
      481 acgagcgcgg cctcgcctgg taccggagtc tgatgccccg aaccctggat gggcagatca
      541 ccatggagaa gacccccagc tacttcgtga cgcgagaggc cccccgccgc atccacgcca
      601 tgtccccgga cacgaagctg atcgtggtgg tgcggaaccc cgtgacccgg gccatctccg
      661 actacgccca gacgctctcc aagaccccgg gcctgcccag cttccgcgcc ctggccttcc
      721 gccacggcct gggccccgtg gacacagcct ggagcgccgt ccgcatcggc ctgtacgccc
      781 agcacctgga ccactggctg cgctacttcc ccctgtccca cttcctgttc gtcagcgggg
      841 agcgtctggt cagcgacccg gccggagagg tcggccgcgt gcaggacttc ctgggcctga
      901 aacgggtcgt cacggacaag cacttctact tcaacgccac caagggcttc ccctgcctca
      961 agaaggccca gggcggcagc cgtccccgct gcctgggcaa gtccaagggc cggccacacc
     1021 cacgcgtgcc ccaggccctg gtccggcgcc tgcaggagtt ctaccggccc ttcaaccgca
     1081 ggttctacca gatgacgggc caggacttcg gctggggctg agcggcaccc tggggatgct
     1141 cagcaccttg attgacaccc gctcgcctgg ccagagcggg ctgcgtgcac atgctgggca
     1201 gagaggaata tttaagaaat aaagcttgga cccaga
//
LOCUS       NM_001009608            6056 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens SLX4 interacting protein (SLX4IP), mRNA.
ACCESSION   NM_001009608
VERSION     NM_001009608.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6056)
  AUTHORS   Mangosh TL, Awadallah WN, Grabowska MM and Taylor DJ.
  TITLE     SLX4IP Promotes Telomere Maintenance in Androgen
            Receptor-Independent Castration-Resistant Prostate Cancer through
            ALT-like Telomeric PML Localization
  JOURNAL   Mol Cancer Res 19 (2), 301-316 (2021)
   PUBMED   33188147
  REMARK    GeneRIF: SLX4IP Promotes Telomere Maintenance in Androgen
            Receptor-Independent Castration-Resistant Prostate Cancer through
            ALT-like Telomeric PML Localization.
REFERENCE   2  (bases 1 to 6056)
  AUTHORS   Robinson NJ, Morrison-Smith CD, Gooding AJ, Schiemann BJ, Jackson
            MW, Taylor DJ and Schiemann WP.
  TITLE     SLX4IP and telomere dynamics dictate breast cancer metastasis and
            therapeutic responsiveness
  JOURNAL   Life Sci Alliance 3 (4), e201900427 (2020)
   PUBMED   32071280
  REMARK    GeneRIF: SLX4IP and telomere dynamics dictate breast cancer
            metastasis and therapeutic responsiveness. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 6056)
  AUTHORS   Zhang H, Chen Z, Ye Y, Ye Z, Cao D, Xiong Y, Srivastava M, Feng X,
            Tang M, Wang C, Tainer JA and Chen J.
  TITLE     SLX4IP acts with SLX4 and XPF-ERCC1 to promote interstrand crosslink
            repair
  JOURNAL   Nucleic Acids Res 47 (19), 10181-10201 (2019)
   PUBMED   31495888
  REMARK    GeneRIF: The binding of SLX4IP to both SLX4 and XPF-ERCC1 not only
            is vital for maintaining the stability of SLX4IP protein, but also
            promotes the interaction between SLX4 and XPF-ERCC1, especially
            after DNA damage. Collectively, these results demonstrate a new
            regulatory role for SLX4IP in maintaining an efficient
            SLX4-XPF-ERCC1 complex in interstrand crosslinks (ICLs) repair.
REFERENCE   4  (bases 1 to 6056)
  AUTHORS   Panier S, Maric M, Hewitt G, Mason-Osann E, Gali H, Dai A, Labadorf
            A, Guervilly JH, Ruis P, Segura-Bayona S, Belan O, Marzec P,
            Gaillard PL, Flynn RL and Boulton SJ.
  TITLE     SLX4IP Antagonizes Promiscuous BLM Activity during ALT Maintenance
  JOURNAL   Mol Cell 76 (1), 27-43 (2019)
   PUBMED   31447390
  REMARK    GeneRIF: SLX4IP antagonizes promiscuous BLM Activity during
            alternative lengthening of telomeres maintenance in osteosarcoma
            cells.
REFERENCE   5  (bases 1 to 6056)
  AUTHORS   Meissner B, Bartram T, Eckert C, Trka J, Panzer-Grumayer R,
            Hermanova I, Ellinghaus E, Franke A, Moricke A, Schrauder A,
            Teigler-Schlegel A, Dorge P, von Stackelberg A, Basso G, Bartram CR,
            Kirschner-Schwabe R, Bornhauser B, Bourquin JP, Cazzaniga G, Hauer
            J, Attarbaschi A, Izraeli S, Zaliova M, Cario G, Zimmermann M,
            Avigad S, Sokalska-Duhme M, Metzler M, Schrappe M, Koehler R, Te
            Kronnie G and Stanulla M.
  TITLE     Frequent and sex-biased deletion of SLX4IP by illegitimate
            V(D)J-mediated recombination in childhood acute lymphoblastic
            leukemia
  JOURNAL   Hum Mol Genet 23 (3), 590-601 (2014)
   PUBMED   24045615
  REMARK    GeneRIF: The association of SLX4IP deletion with male sex suggest
            that differential illegitimate V(D)J-mediated recombination events
            contribute to the higher incidence rates of childhood acute
            lymphoblastic leukemia in boys compared with girls.
REFERENCE   6  (bases 1 to 6056)
  AUTHORS   Svendsen JM, Smogorzewska A, Sowa ME, O'Connell BC, Gygi SP, Elledge
            SJ and Harper JW.
  TITLE     Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is
            required for DNA repair
  JOURNAL   Cell 138 (1), 63-77 (2009)
   PUBMED   19596235
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC020787.1, SRR5189661.147636.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA2163623 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000334534.10/ ENSP00000335557.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC026094.1, AL035456.26 and CA416447.1.
            On Nov 22, 2018 this sequence version replaced NM_001009608.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6056
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.2"
     gene            1..6056
                     /gene="SLX4IP"
                     /gene_synonym="bA204H22.1; bA254M13.1; C20orf94;
                     dJ1099D15.3"
                     /note="SLX4 interacting protein"
                     /db_xref="GeneID:128710"
                     /db_xref="HGNC:HGNC:16225"
                     /db_xref="MIM:615958"
     misc_feature    173..175
                     /gene="SLX4IP"
                     /gene_synonym="bA204H22.1; bA254M13.1; C20orf94;
                     dJ1099D15.3"
                     /note="upstream in-frame stop codon"
     CDS             179..1405
                     /gene="SLX4IP"
                     /gene_synonym="bA204H22.1; bA254M13.1; C20orf94;
                     dJ1099D15.3"
                     /codon_start=1
                     /product="protein SLX4IP"
                     /protein_id="NP_001009608.1"
                     /db_xref="CCDS:CCDS33439.1"
                     /db_xref="GeneID:128710"
                     /db_xref="HGNC:HGNC:16225"
                     /db_xref="MIM:615958"
                     /translation="MASKKFAVKCGNFAVLVDLHILPQGSNKDTSWFSEQKKEEVCLLL
                     KETIDSRVQEYLEVRKQHRPSNAEFTRSNPLSLKGYGFQITAYFLKRGIRLRCIRSTQN
                     AELCVFPDRFVVCVSQLAFSRDLLASQNEDLTERVLHGVSDYFAECAESSLPPSAKLRR
                     NALKEIVKRTETKSSVTSKSQTRRDTVETSSDSVIAEIARRRNDGQASSSPPSESMGQA
                     KDSIKAAESHWGLPVQKLEKVNQTQPEDTSGQQKPHPGERLKTGLLSRSPVCSCESASP
                     CPKQSPRVAKTQQKRRNCSSAEDFDHHGRVSLGSDRLVPREIIVEKSKAVRVLPASELS
                     DPGLLLKQDLAKTTSKEELHVLESLSSRHLMKNNPGQAQQTGLATNTERLSTIQNSPTK
                     KRKKYERGH"
     misc_feature    566..568
                     /gene="SLX4IP"
                     /gene_synonym="bA204H22.1; bA254M13.1; C20orf94;
                     dJ1099D15.3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5VYV7.1); phosphorylation site"
     misc_feature    695..856
                     /gene="SLX4IP"
                     /gene_synonym="bA204H22.1; bA254M13.1; C20orf94;
                     dJ1099D15.3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VYV7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    815..817
                     /gene="SLX4IP"
                     /gene_synonym="bA204H22.1; bA254M13.1; C20orf94;
                     dJ1099D15.3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5VYV7.1); phosphorylation site"
     misc_feature    905..1117
                     /gene="SLX4IP"
                     /gene_synonym="bA204H22.1; bA254M13.1; C20orf94;
                     dJ1099D15.3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VYV7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1271..1402
                     /gene="SLX4IP"
                     /gene_synonym="bA204H22.1; bA254M13.1; C20orf94;
                     dJ1099D15.3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VYV7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1352..1354
                     /gene="SLX4IP"
                     /gene_synonym="bA204H22.1; bA254M13.1; C20orf94;
                     dJ1099D15.3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5VYV7.1); phosphorylation site"
     regulatory      6037..6042
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLX4IP"
                     /gene_synonym="bA204H22.1; bA254M13.1; C20orf94;
                     dJ1099D15.3"
                     /note="hexamer: AGTAAA"
     polyA_site      6056
                     /gene="SLX4IP"
                     /gene_synonym="bA204H22.1; bA254M13.1; C20orf94;
                     dJ1099D15.3"
                     /note="major polyA site"
ORIGIN
        1 gaaagtgctt cccttaagct tctgaaggtt ggctgcagtt ccggctacct gtgtagtccg
       61 agtttccaca gccaggtact actccgccag tgaccctgga cagtaacaaa acatataaag
      121 cccgagccca aaccccgcca ccatcatagg tctgtagtta ctgtggaatc aataagccat
      181 ggcatctaag aaatttgctg ttaaatgtgg gaattttgct gtcctcgtgg atcttcatat
      241 cttgccacaa ggttcaaaca aagatacaag ctggttttct gaacagaaga aagaggaagt
      301 ctgtttactg ttaaaagaaa ccattgattc aagagttcag gagtacttgg aagttcgcaa
      361 acagcacagg ccatcaaatg cagaattcac aagatccaat cccttgtcct taaaaggtta
      421 tggctttcaa atcacagcct atttcctcaa gagagggata cgccttcgct gcatcaggag
      481 cacacagaat gctgaactct gtgtattccc tgacagattt gtggtttgtg tcagtcagct
      541 tgcattcagt cgtgatcttt tagcaagtca gaatgaagat ttgacagaaa gagttctcca
      601 tggagtgtct gattactttg ctgagtgtgc agagagttca cttcctccca gtgcaaagct
      661 ccggagaaat gctctgaaag aaattgtgaa aagaactgaa acaaaaagca gtgtcacgag
      721 caaatcgcag accagaagag acactgtgga aacatctagt gactcagtga ttgcagagat
      781 agcaaggagg aggaatgatg gtcaggcttc ctccagtccc ccatcagaat ccatgggaca
      841 agcaaaggat tccataaagg cagctgagag ccactggggg cttcctgttc aaaagctgga
      901 aaaagttaat cagacccagc cagaagacac tagtggccag caaaaacctc atcctgggga
      961 gcggttaaag acagggcttc taagcaggag ccccgtctgt agctgtgagt cagcatcacc
     1021 atgtccaaaa caaagtccac gagtggccaa aacccaacag aaacgcagga actgcagctc
     1081 tgcggaagac ttcgaccacc acgggagagt ttctcttgga agtgatcgat tagtcccgag
     1141 agaaataata gtggaaaaaa gcaaagctgt cagggttttg ccagcttcag agttgtcaga
     1201 tccagggtta cttttgaaac aagatttggc aaaaaccacg tctaaggaag agttgcatgt
     1261 tttggaaagt ctctcctcca gacatcttat gaaaaataac ccagggcagg cacagcaaac
     1321 cggcttagcc acaaacactg aaagattatc tacaattcag aacagcccaa ccaagaaaag
     1381 aaagaaatac gaaagaggcc attaacaccg aagaggtttg taccgttgga gttgaggaca
     1441 tagtggccaa acctgtgaca agagagctgc gaatatagat gccgggattt taaaggaatt
     1501 aattagaatg actaatttaa ataggaagtg tgttatctgt gttatggcta tggtttgttt
     1561 tcaaagcatt tcaaaccggg aggctatatg cttgttctaa cagcgttgct tctttatcat
     1621 tgtattttat gactgtcttc agagaattag taatgacaaa gagccatcca ccttgtcagg
     1681 gaggagactg tgcaaggact gcatgaagaa actgatcatg agccccttct tggcacatca
     1741 ctgtgcagac cacacaatgg accgtgcaaa gacagtgctg ccgtgctgcc tttcagctcc
     1801 aggggtacaa tccatccccc tgctcctcag cctgagtagg agggcagtga aagaacaagc
     1861 tagtggttct tagcgcgtgg tcctgggacc agcttcgttg tctggaaatg tgctagaaat
     1921 gtggttattg ggccctgccc catgctgagt aactgccttt gggtgattct gaaacatgct
     1981 cgcgtttgag aaccactgga ctaatagaac actccccagt gcttcctgca gcctggttgc
     2041 catggcctcc agctcaccag ttggggccag atgtgcacat gcatcccctc ggactccctc
     2101 aaactcgtaa aacacttggg tttggtgtat gggtcactct cttccgggtt ctacagtatg
     2161 gcagccatgg cacccatgaa ggtgttactt tcccttataa ttgttgaagt cgatgggcga
     2221 ttctgcccaa ccttaggaga agacatcaga gaggctcgtt gttgcctgta gctcaagcat
     2281 gtcccagtcc ctgctcttgc acccacctcc aggattttgg tttgggacag actataacct
     2341 aacaggaact cagtgaccag gttccagttt cccagttgga aggcttcgca ggcagttcaa
     2401 atttcaagat gggagccttc cctttacaat gtcacccact gtctccagtg ggcttgatga
     2461 aatgtcacat agtgaattgt agcaatgact tattttggat ggacacccgc taaaagtttc
     2521 caataaccga atttcactct aaaagaggaa agaaacaata ttcaaggtcc attcattcaa
     2581 tacatctttt ttttttttct gttcaacatg gggtggtcct ttgaaatggc acctccccta
     2641 agtaataagg aaaaccaagt atattcccta aagtgttgaa gttagcagaa aaatcaccca
     2701 gaaaagccca aaacaatgac aagagtacag aaacaggcat agtgtaggtt catgcttgag
     2761 atggattagt ggtttattcc atcccgttct atcctttccc gtatctcctg tccccacttg
     2821 ttaagaccag taagactcat gaagcagcag ctatatttca tggcaccatt ttgggtcatg
     2881 aaattccatc ttggtcacca agcctgactg tggtggtaga tactgttact ttaatgttcc
     2941 aaaccctgcc tagaaacctg ttcctgtccc atgatcccag cctcaccacc cccacttgaa
     3001 acagcccttc ctactggtat cctgtcctct tccctcttgg cttttttcct gctcccagcg
     3061 gaacccagtc aggggattct ataggagaag agggagccca acagaatact aacttcagtg
     3121 gagctgactc tgcttataca ataggggtgg gctgcacaga gtggaaaccg agtacctggt
     3181 agaatgtgca tttccatggc ccactgtagg cgcctctctt agagcaaaca gtattttagg
     3241 tgtgctcttt attgaacaca ggaccacagt gtgtcactga atcttcttaa acagaagcaa
     3301 ttagaacgat ttagatatag ggagggcaca agtaataagt aacccagggg atagaccaag
     3361 aagcagctct ctggaagagt ctggaattaa aaagacggct gtactagaac agtagccact
     3421 gcctgctcca gaactagggg ggagatattt gagctggagc caccagagaa catttctatt
     3481 gagaagtttt tatttgtttg ttctgttggt tttttgttat ttctgttttc ttctaatctt
     3541 tctctgaagt atcactctgg tattgagaaa tttttatttc attagctaac ctgggcttgg
     3601 tggttaaggc tagtacttgt acttagaatg attctctgtc aggaaaagtc ttggctttag
     3661 agtttgttat agttggggat ataacaatta ctgtgatcga agagaaaaaa tagcaccttt
     3721 ggttgtagat agatgtagtt ttcctcacag ccctcacgtc ccttcatgta aaagggattt
     3781 taacaggatt tacagaggga atggctctca gttcccacac tgtgacatgt gtttgaggaa
     3841 ttttgccttt aagcattttt cttgcacatg gctgaaacac ccctggctct cttgttattt
     3901 gagtggttgc atgattcttt ggatatttgg aagtacaaag gggtaaatgg atgccagggg
     3961 ttttttgttg ttgttgctta ttaggtagga tatgaagagt tctcactgtt gggaatggta
     4021 tgtgttttga cattcttttt tttttttttt ttttttttga gacagagtct cgctctgtcg
     4081 cccaggctgg agtgcagtgg ggcgatcttg gctcactgca agctccgcct cctgggttca
     4141 cgtcattctc ctgtctcagc ctcctgagta gctgggacta cagacgctcg ccaccacgcc
     4201 cggctaattt tttgtatttt tttttttttt tttttttttt tagcagaaac gggttttcac
     4261 cgtgttggcc agggtggtct cgatctcctg actcgtgatc cgcccgcctc ggcctcccaa
     4321 agtgctggga ttacaggtga gagccaccgc acccggcctg ttttgacatt cttaatgatc
     4381 ttaataattt ggcatctgaa agtctgaaac agtgtcagta ttgttagtca aaaagaacaa
     4441 gttcttcaac cacttgcgta gtaccccaaa ttatattcaa gtccctgtga ctccaatgct
     4501 tggagaagtc attgatatga tttgattaat gttataactt tgaatttcct aactttctca
     4561 gcggcataga ttctaagcca cttccatgtg ctttcagatg gcatcttaat agattggtgt
     4621 tgaggttatt ttaatgtcca taaacaagaa aggtctggga acaatctgta tgatttttct
     4681 ttcacatttt cttatctttg ccactggagg ttaactgtcg tccagatatg catatgaatt
     4741 gtgaaatgca aagaagcaaa catttggggg taggggagta agtgctgtag ttcttttgtt
     4801 cacttatttt aatactatag aagtgtattt cattttataa aaagcaagaa tcataaaaac
     4861 cctctgtatt ttgatttatg aagaatatag cttctctctg aagtatctca agatatatct
     4921 tggggaccac aatgggatca cagtgtaatt gtttgctgtt ggtgtcatgt ttggatttta
     4981 gcatggtttg ttatgcatgt cagtggcctc tgatttcaga aagagcttgg cgagggcaga
     5041 acacataagg gaaggaaacc tctgctcaag agagtggcct gggatcacag tgtcgtcatt
     5101 cccaatttcc ttgaattcct tcttggcaga ccttactgta atattacaca aaactgtaat
     5161 gagtggccct cctttggagg taacagatgc ctttcctaag aactcaaagt tctcttttca
     5221 gcgtgctgtg acttgaatat ggaaatcatt ttaatttctt cttttctctt atggggaaat
     5281 ttccatgctt ggtttgtcaa gacaagagaa ttcattcctt attattgaaa cattaatgaa
     5341 ctgaaacacg ttgaagcaag taaaaaatca aaattaggtt ggtttatctt aaatagttaa
     5401 aagccttcct tagtacaaaa taaattaagc attgtaaaac gaagttaatt caggtaatta
     5461 ctcagtacag aaatctaacc gtatatatca ttggtattgc aatttaaggg tataattaaa
     5521 ttctcagaaa tctgcaggac tcactctaat ttgctttcta tatttattta caagacaggg
     5581 aacaaatatg tgtcaatgtg cagcttaaca gaggggactt gaatggataa aattatcttt
     5641 aattatctag agctacccag tactgggctt gaatttaatc atagtcaaat gtttcctctg
     5701 gcagcataat attaccatac accatattac cttataattg ccattacagt tccttatcaa
     5761 aaatgttaat tctttgcttg agcaaaaatc aataaaacct tatgtttgac cctaaagtat
     5821 ttgatcaggg aacagaaggt gtgaattgga cagatccccc gaataacttt cttcaatcaa
     5881 gttgaaaaac caaacagcta tgtaagtccc caggagagct ctttttccct tatcttctca
     5941 tttgttttgt tataaactgt ttaaatagtt caaatggttg tgcatgccta ggggatgaaa
     6001 cctatgtaat agaaatgtac tgttttatga ataaggagta aaattgtttt aaaaaa
//
LOCUS       NM_001009609             590 bp    mRNA    linear   PRI 06-JUL-2023
DEFINITION  Homo sapiens SPANX family member N3 (SPANXN3), mRNA.
ACCESSION   NM_001009609
VERSION     NM_001009609.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 590)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 590)
  AUTHORS   Westbrook VA, Schoppee PD, Vanage GR, Klotz KL, Diekman AB,
            Flickinger CJ, Coppola MA and Herr JC.
  TITLE     Hominoid-specific SPANXA/D genes demonstrate differential expression
            in individuals and protein localization to a distinct nuclear
            envelope domain during spermatid morphogenesis
  JOURNAL   Mol Hum Reprod 12 (11), 703-716 (2006)
   PUBMED   17012309
REFERENCE   3  (bases 1 to 590)
  AUTHORS   Kouprina N, Mullokandov M, Rogozin IB, Collins NK, Solomon G, Otstot
            J, Risinger JI, Koonin EV, Barrett JC and Larionov V.
  TITLE     The SPANX gene family of cancer/testis-specific antigens: rapid
            evolution and amplification in African great apes and hominids
  JOURNAL   Proc Natl Acad Sci U S A 101 (9), 3077-3082 (2004)
   PUBMED   14973187
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC062750.1, DQ336128.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370503.2/ ENSP00000359534.2
            RefSeq Select criteria      :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC062750.1 and DQ336129.1.
            On Nov 22, 2018 this sequence version replaced NM_001009609.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..590
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq27.3"
     gene            1..590
                     /gene="SPANXN3"
                     /gene_synonym="CT11.8; SPANX-N3"
                     /note="SPANX family member N3"
                     /db_xref="GeneID:139067"
                     /db_xref="HGNC:HGNC:33176"
                     /db_xref="MIM:300666"
     CDS             85..510
                     /gene="SPANXN3"
                     /gene_synonym="CT11.8; SPANX-N3"
                     /note="cancer/testis antigen family 11, member 8;
                     nuclear-associated protein SPAN-Xn3"
                     /codon_start=1
                     /product="sperm protein associated with the nucleus on the
                     X chromosome N3"
                     /protein_id="NP_001009609.2"
                     /db_xref="CCDS:CCDS35418.1"
                     /db_xref="GeneID:139067"
                     /db_xref="HGNC:HGNC:33176"
                     /db_xref="MIM:300666"
                     /translation="MEQPTSSTNGEKTKSPCESNNKKNDEMQEVPNRVLAPEQSLKNTK
                     TSEYPIIFVYYLRKGKKINSNQLENEQSQENSINPIQKEEDEGVDLSEGSSNEDEDLGP
                     CEGPSKEDKDLDSSEGSSQEDEDLGLSEGSSQDSGED"
     misc_feature    85..225
                     /gene="SPANXN3"
                     /gene_synonym="CT11.8; SPANX-N3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MJ09.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    280..507
                     /gene="SPANXN3"
                     /gene_synonym="CT11.8; SPANX-N3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MJ09.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      566..571
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPANXN3"
                     /gene_synonym="CT11.8; SPANX-N3"
                     /note="hexamer: AATAAA"
     polyA_site      590
                     /gene="SPANXN3"
                     /gene_synonym="CT11.8; SPANX-N3"
                     /note="major polyA site"
ORIGIN
        1 atcccactgg gaagcttcaa catagctgtg gaagtctgca gtctacagga gcctactata
       61 gacattctac aaccaaccag aatcatggaa cagccaactt ccagcaccaa tggggagaag
      121 acgaagagcc cctgtgaatc caataacaaa aaaaatgatg agatgcaaga ggtaccaaac
      181 agagtcttag cccccgaaca gagtttgaag aacacaaaaa catcagaata tccaataata
      241 tttgtgtatt acctcaggaa gggtaagaaa ataaattcaa atcaactgga gaatgaacag
      301 tcccaagaga actccatcaa tccaatccaa aaggaggagg acgaaggcgt agacttatct
      361 gaaggatctt caaatgagga tgaagaccta ggcccatgtg aaggaccttc aaaggaggac
      421 aaagatctag actcatctga aggatcctca caggaggatg aagacctagg cttatctgaa
      481 ggatcttcac aggacagtgg ggaggattag tcacacatgg agaaaccaaa ttggacaaat
      541 catcaccact gatggcgatg attacaataa aatcaagttt aaggagctga
//
LOCUS       NM_001009611            1840 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.
ACCESSION   NM_001009611
VERSION     NM_001009611.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1840)
  AUTHORS   Li B, Li T, Pignon JC, Wang B, Wang J, Shukla SA, Dou R, Chen Q,
            Hodi FS, Choueiri TK, Wu C, Hacohen N, Signoretti S, Liu JS and Liu
            XS.
  TITLE     Landscape of tumor-infiltrating T cell repertoire of human cancers
  JOURNAL   Nat Genet 48 (7), 725-732 (2016)
   PUBMED   27240091
  REMARK    GeneRIF: PRAMEF4 mutation is associated with cancer.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AL049681.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000235349.6/ ENSP00000235349.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC245034.2.
            On Apr 9, 2014 this sequence version replaced NM_001009611.3.
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1840
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..1840
                     /gene="PRAMEF4"
                     /note="PRAME family member 4"
                     /db_xref="GeneID:400735"
                     /db_xref="HGNC:HGNC:31971"
     CDS             72..1508
                     /gene="PRAMEF4"
                     /note="RP5-845O24.6"
                     /codon_start=1
                     /product="PRAME family member 4"
                     /protein_id="NP_001009611.2"
                     /db_xref="CCDS:CCDS30592.1"
                     /db_xref="GeneID:400735"
                     /db_xref="HGNC:HGNC:31971"
                     /translation="MKMSIWTPPRLLELAGRSLLRDQALAMSTLEELPTELFPPLFMEA
                     FSRRRCEALKLMVQSWPFRRLPLRPLIKMPCLEAFQAVLDGLDALLNLGVRPRRWKLQV
                     LDLQDVCENFWMVWSEAMAHGCFLNAKRNKKPVEDCPRMKGRQPLTVFVELWLKNRTLD
                     EYLTCLLLWVKQRKDLLHLCCKKLKILGMPFRNIRSILKMVNLDCIQEVEVNCKWVLPI
                     LTQFTPYLGHMRNLQKLILSHMDVSRYVSPEQKKEIVTQFTTQFLKLRCLQKLYMNSVS
                     FLEGHLDQLLSCLKTSLKFLTITNCVLLESDLKHLSQCPSISQLKTLDLSGIRLTNYSL
                     VPLQILLEKVAATLEYLDLDDCGIIDSQVNAILPALSRCFELNTFSFCGNPICMATLEN
                     LLSHTIILKNLCVELYPAPRESYGADGTLCWSRFAQIRAELMNRVRDLRHPKRILFCTD
                     YCPDCGNRSFYDLEADQYCC"
     misc_feature    366..449
                     /gene="PRAMEF4"
                     /note="propagated from UniProtKB/Swiss-Prot (O60810.5);
                     Region: LRR 1, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    612..686
                     /gene="PRAMEF4"
                     /note="propagated from UniProtKB/Swiss-Prot (O60810.5);
                     Region: LRR 2, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    687..767
                     /gene="PRAMEF4"
                     /note="propagated from UniProtKB/Swiss-Prot (O60810.5);
                     Region: LRR 3, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    768..875
                     /gene="PRAMEF4"
                     /note="propagated from UniProtKB/Swiss-Prot (O60810.5);
                     Region: LRR 4, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    876..953
                     /gene="PRAMEF4"
                     /note="propagated from UniProtKB/Swiss-Prot (O60810.5);
                     Region: LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    954..1049
                     /gene="PRAMEF4"
                     /note="propagated from UniProtKB/Swiss-Prot (O60810.5);
                     Region: LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1050..1112
                     /gene="PRAMEF4"
                     /note="propagated from UniProtKB/Swiss-Prot (O60810.5);
                     Region: LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1122..1205
                     /gene="PRAMEF4"
                     /note="propagated from UniProtKB/Swiss-Prot (O60810.5);
                     Region: LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1206..1280
                     /gene="PRAMEF4"
                     /note="propagated from UniProtKB/Swiss-Prot (O60810.5);
                     Region: LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
ORIGIN
        1 ttcctgcttg gttcttcctg agatctgaga accttctaga ctacatccag atctgttttc
       61 cctgcagatt catgaagatg agcatctgga ctccacccag actcctggag cttgcagggc
      121 ggagcctgct aagggaccaa gctttggcca tgtccaccct ggaggagctg cccacagaac
      181 ttttcccccc actgttcatg gaggccttca gcaggagacg ctgtgaggcc ctgaagctga
      241 tggtgcagtc ctggcccttc cgccgcctcc ctctgaggcc tctgataaag atgccttgtc
      301 tggaggcctt ccaagctgtg ctcgatgggc tggatgcact gcttaaccta ggggttcgtc
      361 ccaggaggtg gaaacttcaa gtgctggatt tacaggatgt ctgtgagaac ttctggatgg
      421 tttggtctga agctatggcc catgggtgct tcctcaatgc caagaggaac aaaaaaccag
      481 tggaggactg tccaaggatg aaaggacggc agcccttgac tgtgttcgta gaactttggc
      541 tcaagaacag gactctggat gaatacctca cctgcctcct tctatgggtc aagcagagga
      601 aagatttact acacctgtgc tgtaagaagc tgaaaatttt gggaatgccc ttccgcaata
      661 tcagaagcat cctgaaaatg gtgaacctag actgtatcca ggaggtggaa gtgaattgca
      721 agtgggtact gcccatcctg acacagttta ccccatacct gggccacatg aggaatcttc
      781 agaaactcat tctctcccac atggatgtct ctcgctacgt ttccccagag cagaagaagg
      841 agattgttac ccagttcacc actcagttcc tcaagctgcg ctgcctccaa aagctttata
      901 tgaactctgt ttctttcctc gaaggccacc tggaccagct gctcagctgt ctgaagacct
      961 cgttaaagtt cctcacaata actaactgtg tgcttttgga atcagacttg aagcatctat
     1021 cccagtgccc gagtatcagt caactaaaga ccctggacct gagtggcatc agactgacca
     1081 attacagtct tgtgcctctc caaattctcc tagaaaaagt tgcagccacc cttgagtacc
     1141 tggatttaga tgactgtggc atcatagact cccaagtcaa cgccatcttg cctgccctga
     1201 gccgctgctt tgagctcaac accttcagct tctgtggaaa tcccatctgc atggccaccc
     1261 tggagaacct gctgagccac acaatcatac tcaaaaactt atgcgtggag ctgtatcctg
     1321 ccccccggga gagttatggt gctgatggta ctctctgctg gagcagattt gctcaaatta
     1381 gggctgagct gatgaacaga gtgagggact taaggcaccc caagaggatc ttgttctgta
     1441 ctgactactg ccctgactgt ggcaacaggt cattttatga cctggaggca gatcaatact
     1501 gctgttgaat gcctgcctat ttggatgggt atgtcaaacg ctttcttctg gacacttgga
     1561 aactaaaacc taggtcttag gtacatccta aagggagcac agaacccatc atttcacaca
     1621 taggctctga aagtgggaaa ggaaagctga tcaagcaggg gccggacttg ggggaaatgt
     1681 tgccatggat tcgatgggac tttggggacc tgtgtcctgt agagtcgaaa atgggaatct
     1741 gaatgtctag agtggaattc aggcttgaga atacatgagg gagttactct tgcatggatg
     1801 gttgtaaaga aacaatcaga aataaaggaa aactgagcag
//
LOCUS       NM_001009613             452 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens SPANX family member N4 (SPANXN4), mRNA.
ACCESSION   NM_001009613
VERSION     NM_001009613.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 452)
  AUTHORS   Westbrook VA, Schoppee PD, Vanage GR, Klotz KL, Diekman AB,
            Flickinger CJ, Coppola MA and Herr JC.
  TITLE     Hominoid-specific SPANXA/D genes demonstrate differential expression
            in individuals and protein localization to a distinct nuclear
            envelope domain during spermatid morphogenesis
  JOURNAL   Mol Hum Reprod 12 (11), 703-716 (2006)
   PUBMED   17012309
REFERENCE   2  (bases 1 to 452)
  AUTHORS   Kouprina N, Mullokandov M, Rogozin IB, Collins NK, Solomon G, Otstot
            J, Risinger JI, Koonin EV, Barrett JC and Larionov V.
  TITLE     The SPANX gene family of cancer/testis-specific antigens: rapid
            evolution and amplification in African great apes and hominids
  JOURNAL   Proc Natl Acad Sci U S A 101 (9), 3077-3082 (2004)
   PUBMED   14973187
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC130505.1, DQ336126.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000446864.2/ ENSP00000405210.1
            RefSeq Select criteria      :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC130503.1 and AL137840.12.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 13, 2020 this sequence version replaced NM_001009613.3.
            Summary: This gene represents one of several duplicated family
            members that are located on the X chromosome. This gene family
            encodes proteins that play a role in spermiogenesis. These proteins
            represent a specific subgroup of cancer/testis-associated antigens,
            and they may be candidates for tumor vaccines. This family member
            belongs to a subgroup of related genes that are present in all
            primates and rats and mice, and thus, it represents one of the
            ancestral family members. [provided by RefSeq, Sep 2009].
FEATURES             Location/Qualifiers
     source          1..452
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq27.3"
     gene            1..452
                     /gene="SPANXN4"
                     /gene_synonym="CT11.9"
                     /note="SPANX family member N4"
                     /db_xref="GeneID:441525"
                     /db_xref="HGNC:HGNC:33177"
                     /db_xref="MIM:300667"
     CDS             88..387
                     /gene="SPANXN4"
                     /gene_synonym="CT11.9"
                     /note="cancer/testis antigen family 11, member 9;
                     nuclear-associated protein SPAN-Xn4"
                     /codon_start=1
                     /product="sperm protein associated with the nucleus on the
                     X chromosome N4"
                     /protein_id="NP_001009613.1"
                     /db_xref="CCDS:CCDS48178.1"
                     /db_xref="GeneID:441525"
                     /db_xref="HGNC:HGNC:33177"
                     /db_xref="MIM:300667"
                     /translation="MEEPTSSTNENKMKSPCESNKRKVDKKKKNLHRASAPEQSLKETE
                     KAKYPTLVFYCRKNKKRNSNQLENNQPTESSTDPIKEKGDLDISAGSPQDGGQN"
     misc_feature    88..384
                     /gene="SPANXN4"
                     /gene_synonym="CT11.9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MJ08.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      429..434
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPANXN4"
                     /gene_synonym="CT11.9"
                     /note="hexamer: AATAAA"
     polyA_site      452
                     /gene="SPANXN4"
                     /gene_synonym="CT11.9"
                     /note="major polyA site"
ORIGIN
        1 gacagcccac tggaaagctt caatacagct gtggaaatct gcaccctaga agatcctagt
       61 acagaaattc tacaaccaac cataatcatg gaagagccaa cttccagcac caacgagaat
      121 aaaatgaaga gcccctgtga atctaacaaa agaaaagttg acaagaagaa gaagaatctg
      181 cacagagcct cagcccctga acagagtttg aaagagacag aaaaagcaaa atatccaaca
      241 ttagtgtttt actgcaggaa gaataagaaa agaaattcaa atcaactgga gaataaccag
      301 cctacagaga gctccactga tccaatcaaa gagaaaggag acctagacat atctgcagga
      361 tctccacagg atggtgggca gaattagtcc aaattggaca aatcatcacc actgatggcg
      421 atgattacaa taaaatcagt ttgaggagct ga
//
LOCUS       NM_001009614             697 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens SPANX family member N1 (SPANXN1), mRNA.
ACCESSION   NM_001009614
VERSION     NM_001009614.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 697)
  AUTHORS   Westbrook VA, Schoppee PD, Vanage GR, Klotz KL, Diekman AB,
            Flickinger CJ, Coppola MA and Herr JC.
  TITLE     Hominoid-specific SPANXA/D genes demonstrate differential expression
            in individuals and protein localization to a distinct nuclear
            envelope domain during spermatid morphogenesis
  JOURNAL   Mol Hum Reprod 12 (11), 703-716 (2006)
   PUBMED   17012309
REFERENCE   2  (bases 1 to 697)
  AUTHORS   Kouprina N, Mullokandov M, Rogozin IB, Collins NK, Solomon G, Otstot
            J, Risinger JI, Koonin EV, Barrett JC and Larionov V.
  TITLE     The SPANX gene family of cancer/testis-specific antigens: rapid
            evolution and amplification in African great apes and hominids
  JOURNAL   Proc Natl Acad Sci U S A 101 (9), 3077-3082 (2004)
   PUBMED   14973187
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ336118.1, DQ336119.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370493.4/ ENSP00000359524.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL713923.2, DQ336118.1 and
            AL356499.16.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001009614.2.
            Summary: This gene represents one of several duplicated family
            members that are located on chromosome X. This gene family encodes
            proteins that play a role in spermiogenesis. These proteins
            represent a specific subgroup of cancer/testis-associated antigens,
            and they may be candidates for tumor vaccines. This family member
            belongs to a subgroup of related genes that are present in all
            primates and rats and mice, and thus, it represents one of the
            ancestral family members. [provided by RefSeq, May 2010].
FEATURES             Location/Qualifiers
     source          1..697
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq27.3"
     gene            1..697
                     /gene="SPANXN1"
                     /gene_synonym="CT11.6"
                     /note="SPANX family member N1"
                     /db_xref="GeneID:494118"
                     /db_xref="HGNC:HGNC:33174"
                     /db_xref="MIM:300664"
     CDS             85..303
                     /gene="SPANXN1"
                     /gene_synonym="CT11.6"
                     /note="cancer/testis antigen family 11, member 6;
                     nuclear-associated protein SPAN-Xn1"
                     /codon_start=1
                     /product="sperm protein associated with the nucleus on the
                     X chromosome N1"
                     /protein_id="NP_001009614.1"
                     /db_xref="CCDS:CCDS35421.1"
                     /db_xref="GeneID:494118"
                     /db_xref="HGNC:HGNC:33174"
                     /db_xref="MIM:300664"
                     /translation="MEQPTSSINGEKRKSPCESNNENDEMQETPNRDLAPEPSLKKMKT
                     SEYSTVLAFCYRKAKKIHSNQLENDQS"
     misc_feature    85..216
                     /gene="SPANXN1"
                     /gene_synonym="CT11.6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VSR9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 atcctcctgg gaagcttcaa tacagctgtg caagtctgga gtctacaaga gcctactata
       61 gacattctac aaccaaccag aatcatggaa cagcccactt caagcatcaa tggggagaag
      121 aggaagagcc cctgtgaatc caacaatgaa aatgatgaga tgcaggagac accaaacagg
      181 gacttagccc ccgaaccgag tttgaaaaag atgaaaacgt cagaatattc aacagtatta
      241 gcgttttgct acaggaaagc taagaaaata cattcaaatc aactggagaa tgaccagtcc
      301 tgagagaact ccatcaatcc agtccaagag gaggaggacg aaggcctaga ctcagctgaa
      361 ggatcttcaa agcaggatga agacctagac ttacctgaag gcctagactc agctgaagga
      421 tcttcaaagc aggatgaaga cctagactta cctgaaggat cttcaaagca gaatgaagac
      481 ctaggcttac ctgaaggatc ttcaaagcag gatgaagacc tagacttacc tgaaggatct
      541 tcacaggagg ataaagacgt agaattacct gaaggatctt cacaggagga tgaagaccta
      601 gagaaaaagc gatcatctag gtcaagaaat gaaatcgaaa tttcagaaat tacagaaatt
      661 ctccaaggaa ggagccagat aaataaatat tctgatt
//
LOCUS       NM_001009615             707 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens SPANX family member N2 (SPANXN2), mRNA.
ACCESSION   NM_001009615
VERSION     NM_001009615.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 707)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 707)
  AUTHORS   Westbrook VA, Schoppee PD, Vanage GR, Klotz KL, Diekman AB,
            Flickinger CJ, Coppola MA and Herr JC.
  TITLE     Hominoid-specific SPANXA/D genes demonstrate differential expression
            in individuals and protein localization to a distinct nuclear
            envelope domain during spermatid morphogenesis
  JOURNAL   Mol Hum Reprod 12 (11), 703-716 (2006)
   PUBMED   17012309
REFERENCE   3  (bases 1 to 707)
  AUTHORS   Kouprina N, Mullokandov M, Rogozin IB, Collins NK, Solomon G, Otstot
            J, Risinger JI, Koonin EV, Barrett JC and Larionov V.
  TITLE     The SPANX gene family of cancer/testis-specific antigens: rapid
            evolution and amplification in African great apes and hominids
  JOURNAL   Proc Natl Acad Sci U S A 101 (9), 3077-3082 (2004)
   PUBMED   14973187
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DB496702.1, DQ336115.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000598475.2/ ENSP00000470584.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL500522.10 and AC239921.3.
            On Aug 9, 2021 this sequence version replaced NM_001009615.2.
FEATURES             Location/Qualifiers
     source          1..707
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq27.3"
     gene            1..707
                     /gene="SPANXN2"
                     /gene_synonym="CT11.7; SPANX-N2"
                     /note="SPANX family member N2"
                     /db_xref="GeneID:494119"
                     /db_xref="HGNC:HGNC:33175"
                     /db_xref="MIM:300665"
     CDS             85..627
                     /gene="SPANXN2"
                     /gene_synonym="CT11.7; SPANX-N2"
                     /note="cancer/testis antigen family 11, member 7;
                     nuclear-associated protein SPAN-Xn2"
                     /codon_start=1
                     /product="sperm protein associated with the nucleus on the
                     X chromosome N2"
                     /protein_id="NP_001009615.1"
                     /db_xref="CCDS:CCDS35419.1"
                     /db_xref="GeneID:494119"
                     /db_xref="HGNC:HGNC:33175"
                     /db_xref="MIM:300665"
                     /translation="MEQPTSSTNGEKRKSPCESNNKKNDEMQEAPNRVLAPKQSLQKTK
                     TIEYLTIIVYYYRKHTKINSNQLEKDQSRENSINPVQEEEDEGLDSAEGSSQEDEDLDS
                     SEGSSQEDEDLDSSEGSSQEDEDLDSSEGSSQEDEDLDSSEGSSQEDEDLDPPEGSSQE
                     DEDLDSSEGSSQEGGED"
     misc_feature    85..222
                     /gene="SPANXN2"
                     /gene_synonym="CT11.7; SPANX-N2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MJ10.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    274..624
                     /gene="SPANXN2"
                     /gene_synonym="CT11.7; SPANX-N2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MJ10.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      683..688
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPANXN2"
                     /gene_synonym="CT11.7; SPANX-N2"
                     /note="hexamer: AATAAA"
     polyA_site      707
                     /gene="SPANXN2"
                     /gene_synonym="CT11.7; SPANX-N2"
                     /note="major polyA site"
ORIGIN
        1 atcctcctgg caagcttcaa tatagctgtg gaagtctgca gtctacaaga gcctactata
       61 gacattctac aaccaagcag aatcatggaa cagccgactt caagcaccaa tggggagaag
      121 aggaagagcc cctgtgaatc caataacaaa aaaaatgatg agatgcagga ggcaccgaac
      181 agggtcttag cccccaaaca gagcttgcaa aagacaaaaa caatagaata tctaacaata
      241 atagtgtatt actacaggaa gcatacgaaa ataaattcaa atcaactgga gaaggaccag
      301 tcccgagaga actccatcaa tccagtccaa gaggaggagg acgaaggcct agactcagct
      361 gaaggatctt cacaggagga cgaagacctg gactcatctg aaggatcttc acaggaggac
      421 gaagacctgg actcatctga aggatcttca caggaggacg aagacctgga ctcatctgaa
      481 ggatcttcac aggaggacga agacctggac tcatctgaag gatcttcaca ggaggacgaa
      541 gacctggacc cacctgaagg atcttcacag gaggacgaag acctagactc atctgaagga
      601 tcttcacagg agggtgggga ggactagtca aacatggaga aaccaaattg gacaaatcct
      661 cactaccaat ggcgatgatt acaataaaat caagtttgag gagctga
//
LOCUS       NM_001009616             642 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens SPANX family member N5 (SPANXN5), mRNA.
ACCESSION   NM_001009616
VERSION     NM_001009616.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 642)
  AUTHORS   Westbrook VA, Schoppee PD, Vanage GR, Klotz KL, Diekman AB,
            Flickinger CJ, Coppola MA and Herr JC.
  TITLE     Hominoid-specific SPANXA/D genes demonstrate differential expression
            in individuals and protein localization to a distinct nuclear
            envelope domain during spermatid morphogenesis
  JOURNAL   Mol Hum Reprod 12 (11), 703-716 (2006)
   PUBMED   17012309
REFERENCE   2  (bases 1 to 642)
  AUTHORS   Kouprina N, Mullokandov M, Rogozin IB, Collins NK, Solomon G, Otstot
            J, Risinger JI, Koonin EV, Barrett JC and Larionov V.
  TITLE     The SPANX gene family of cancer/testis-specific antigens: rapid
            evolution and amplification in African great apes and hominids
  JOURNAL   Proc Natl Acad Sci U S A 101 (9), 3077-3082 (2004)
   PUBMED   14973187
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375511.4/ ENSP00000364661.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC244505.1 and AL039107.1.
            On May 17, 2019 this sequence version replaced NM_001009616.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..642
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.22"
     gene            1..642
                     /gene="SPANXN5"
                     /gene_synonym="CT11.10; SPANX-N5"
                     /note="SPANX family member N5"
                     /db_xref="GeneID:494197"
                     /db_xref="HGNC:HGNC:33178"
                     /db_xref="MIM:300668"
     CDS             80..298
                     /gene="SPANXN5"
                     /gene_synonym="CT11.10; SPANX-N5"
                     /note="cancer/testis antigen family 11, member 10;
                     nuclear-associated protein SPAN-Xn5"
                     /codon_start=1
                     /product="sperm protein associated with the nucleus on the
                     X chromosome N5"
                     /protein_id="NP_001009616.1"
                     /db_xref="CCDS:CCDS35295.1"
                     /db_xref="GeneID:494197"
                     /db_xref="HGNC:HGNC:33178"
                     /db_xref="MIM:300668"
                     /translation="MEKPTSSTNGEKRKSPCDSNSKNDEMQETPNRDLVLEPSLKKMKT
                     SEYSTVLVLCYRKTKKIHSNQLENDQS"
     misc_feature    80..199
                     /gene="SPANXN5"
                     /gene_synonym="CT11.10; SPANX-N5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MJ07.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      618..623
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPANXN5"
                     /gene_synonym="CT11.10; SPANX-N5"
                     /note="hexamer: AATAAA"
     polyA_site      642
                     /gene="SPANXN5"
                     /gene_synonym="CT11.10; SPANX-N5"
                     /note="major polyA site"
ORIGIN
        1 actgggaagc ttcaatatag ctgtggaagt ctggactcta caagatcctg ctgtagacat
       61 tcaacaacca accagaatca tggaaaagcc cacttcaagc accaatgggg agaagaggaa
      121 gagcccctgt gactccaaca gcaaaaatga tgagatgcag gagacaccaa acagggactt
      181 agtcctcgaa ccgagtttga aaaagatgaa aacatcagaa tattcaacag tattagtgtt
      241 gtgctacagg aagactaaga aaatacattc aaatcaactc gagaatgacc agtcctgaga
      301 gaactccatc aatccagtcc aagaggagga ggacgaagga tcctcacagg aggacgaaga
      361 cctagactca tctgcagaat cttcaaagca ggatgaagac ctacaattac ctgaaggatc
      421 ttcacaggag gatgaagacc tagggttatc tgaaggatct tcacaagagg atgaagacct
      481 agactcatct gaaggatctt tgatggagga agaagaccca gactcatctg aaggatcgtc
      541 agaggagggt gaggaagact aattaaacat ggagaaacca aattggacaa atcctcacca
      601 ccaacggtga tgattacaat aaaatcaagt ttgagaagct ga
//
LOCUS       NM_001009880            6338 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA.
ACCESSION   NM_001009880
VERSION     NM_001009880.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6338)
  AUTHORS   Ji X, Mukherjee S, Landi MT, Bosse Y, Joubert P, Zhu D, Gorlov I,
            Xiao X, Han Y, Gorlova O, Hung RJ, Brhane Y, Carreras-Torres R,
            Christiani DC, Caporaso N, Johansson M, Liu G, Bojesen SE, Le
            Marchand L, Albanes D, Bickeboller H, Aldrich MC, Bush WS, Tardon A,
            Rennert G, Chen C, Byun J, Dragnev KH, Field JK, Kiemeney LF,
            Lazarus P, Zienolddiny S, Lam S, Schabath MB, Andrew AS, Bertazzi
            PA, Pesatori AC, Diao N, Su L, Song L, Zhang R, Leighl N, Johansen
            JS, Mellemgaard A, Saliba W, Haiman C, Wilkens L, Fernandez-Somoano
            A, Fernandez-Tardon G, Heijden EHFMV, Kim JH, Davies MPA, Marcus MW,
            Brunnstrom H, Manjer J, Melander O, Muller DC, Overvad K,
            Trichopoulou A, Tumino R, Goodman GE, Cox A, Taylor F, Woll P,
            Wichmann E, Muley T, Risch A, Rosenberger A, Grankvist K, Johansson
            M, Shepherd F, Tsao MS, Arnold SM, Haura EB, Bolca C, Holcatova I,
            Janout V, Kontic M, Lissowska J, Mukeria A, Ognjanovic S, Orlowski
            TM, Scelo G, Swiatkowska B, Zaridze D, Bakke P, Skaug V, Butler LM,
            Offit K, Srinivasan P, Bandlamudi C, Hellmann MD, Solit DB, Robson
            ME, Rudin CM, Stadler ZK, Taylor BS, Berger MF, Houlston R,
            McLaughlin J, Stevens V, Nickle DC, Obeidat M, Timens W, Artigas MS,
            Shete S, Brenner H, Chanock S, Brennan P, McKay JD and Amos CI.
  TITLE     Protein-altering germline mutations implicate novel genes related to
            lung cancer development
  JOURNAL   Nat Commun 11 (1), 2220 (2020)
   PUBMED   32393777
  REMARK    GeneRIF: Protein-altering germline mutations implicate novel genes
            related to lung cancer development. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6338)
  AUTHORS   Couzens AL, Knight JD, Kean MJ, Teo G, Weiss A, Dunham WH, Lin ZY,
            Bagshaw RD, Sicheri F, Pawson T, Wrana JL, Choi H and Gingras AC.
  TITLE     Protein interaction network of the mammalian Hippo pathway reveals
            mechanisms of kinase-phosphatase interactions
  JOURNAL   Sci Signal 6 (302), rs15 (2013)
   PUBMED   24255178
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6338)
  AUTHORS   Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S,
            Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett
            JR, Langeberg LK, Scott JD and Pawson T.
  TITLE     Proteomic, functional, and domain-based analysis of in vivo 14-3-3
            binding proteins involved in cytoskeletal regulation and cellular
            organization
  JOURNAL   Curr Biol 14 (16), 1436-1450 (2004)
   PUBMED   15324660
REFERENCE   4  (bases 1 to 6338)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   5  (bases 1 to 6338)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP,
            Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird
            CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien
            KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1740185.1,
            SRR7346977.2402639.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000336156.10/ ENSP00000336720.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL008718.23, AI830875.1, BC053595.1 and AK025608.1.
            On May 20, 2020 this sequence version replaced NM_001009880.1.
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding region compared to variant 1. The resulting isoform (b) is
            shorter and has a distinct N-terminus compared to isoform a.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6338
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.31"
     gene            1..6338
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="KIAA0930"
                     /db_xref="GeneID:23313"
                     /db_xref="HGNC:HGNC:1314"
                     /db_xref="MIM:619709"
     CDS             192..1406
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="isoform b is encoded by transcript variant 2"
                     /codon_start=1
                     /product="uncharacterized protein KIAA0930 isoform b"
                     /protein_id="NP_001009880.1"
                     /db_xref="CCDS:CCDS33665.1"
                     /db_xref="GeneID:23313"
                     /db_xref="HGNC:HGNC:1314"
                     /db_xref="MIM:619709"
                     /translation="MLRAIAEERGRLSLRREVCGLGCFKDDRIVFWTWMFSTYFMEKWA
                     PRQDDMLFYVRRKLAYSGSESGADGRKAAEPEVEVEVYRRDSKKLPGLGDPDIDWEESV
                     CLNLILQKLDYMVTCAVCTRADGGDIHIHKKKSQQVFASPSKHPMDSKGEESKISYPNI
                     FFMIDSFEEVFSDMTVGEGEMVCVELVASDKTNTFQGVIFQGSIRYEALKKVYDNRVSV
                     AARMAQKMSFGFYKYSNMEFVRMKGPQGKGHAEMAVSRVSTGDTSPCGTEEDSSPASPM
                     HERVTSFSTPPTPERNNRPAFFSPSLKRKVPRNRIAEMKKSHSANDSEEFFREDDGGAD
                     LHNATNLRSRSLSGTGRSLVGSWLKLNRADGNFLLYAHLTYVTLPLHRILTDILEVRQK
                     PILMT"
     misc_feature    972..1112
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ICG6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    990..992
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q6ICG6.1); phosphorylation site"
     misc_feature    1017..1019
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UE31; propagated from
                     UniProtKB/Swiss-Prot (Q6ICG6.1); phosphorylation site"
     misc_feature    1026..1028
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q6ICG6.1); phosphorylation site"
     misc_feature    1059..1061
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q6ICG6.1); phosphorylation site"
     misc_feature    1068..1070
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6ICG6.1); phosphorylation site"
     misc_feature    1101..1103
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6ICG6.1); phosphorylation site"
     misc_feature    1107..1109
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6ICG6.1); phosphorylation site"
     misc_feature    1149..1211
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ICG6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1161..1163
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q6ICG6.1); phosphorylation site"
     misc_feature    1263..1265
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q4G008; propagated from
                     UniProtKB/Swiss-Prot (Q6ICG6.1); phosphorylation site"
     misc_feature    1275..1277
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6ICG6.1); phosphorylation site"
     regulatory      2730..2735
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="hexamer: ATTAAA"
     polyA_site      2754
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="major polyA site"
     regulatory      6318..6323
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
                     /note="hexamer: ATTAAA"
     polyA_site      6338
                     /gene="KIAA0930"
                     /gene_synonym="C22orf9; LSC3"
ORIGIN
        1 ggaggtgcgc tcgccggtgc tgtgtttggc gggtggtggc ggcggcggcg gcgacggcga
       61 cgcgcacaga ggcggactgt ggcttccttg gtgctcgcgg cgggctgcgg gccgggccgc
      121 ccgccctccc cgccgccgcc gcccccgagc ctgcgggcgg cgccgaggcc gaggagcgct
      181 cgctgcagca catgctgcgt gccatagcgg aggagcgcgg ccgtcttagc ctgcgccgcg
      241 aggtctgcgg cctcgggtgc ttcaaggatg accgcatcgt cttctggact tggatgttct
      301 ccacctactt catggagaaa tgggctcccc ggcaggacga catgcttttc tatgtgcgcc
      361 ggaagctggc gtactccggc agcgaaagcg gtgcagacgg gaggaaggca gctgagcctg
      421 aggtggaggt ggaggtgtac cggcgggact ccaagaagct gccaggcctg ggagaccctg
      481 acatcgactg ggaggagagc gtctgcctga atctcatcct gcagaagctg gactacatgg
      541 tgacctgtgc ggtgtgcaca cgtgctgacg gcggggacat tcacatccat aagaagaaat
      601 ctcagcaagt gttcgcgtcc cccagtaaac accccatgga cagcaagggg gaggagtcca
      661 agatcagcta ccccaacatc ttcttcatga ttgacagctt cgaggaggtg ttcagcgaca
      721 tgaccgtagg ggaaggagag atggtctgtg tggagctggt ggctagtgac aaaaccaaca
      781 cgttccaggg ggtcatcttt cagggctcca tccgctacga ggcgctcaag aaggtgtatg
      841 acaaccgggt gagcgtggcc gcccgcatgg cacagaagat gtcgtttggc ttctacaagt
      901 acagcaacat ggagtttgtg cgcatgaagg gcccccaggg caagggccac gccgagatgg
      961 cggtcagccg agtgtctaca ggtgacacat ccccctgtgg gactgaagag gactccagcc
     1021 cagcttcgcc catgcacgag cgggtgacct ccttcagcac accccccacc ccagaacgga
     1081 acaaccggcc tgccttcttc tccccatccc tcaagaggaa ggtgccccgg aaccggatcg
     1141 ctgagatgaa gaagtcgcac tcggccaacg acagcgagga gttcttccgg gaggacgacg
     1201 gtggagccga tctgcacaat gcaaccaacc tgcggtctcg gtccctgtcg ggcacaggac
     1261 ggtccctggt cgggtcctgg ctgaagctga acagagcaga tggaaacttc cttctctatg
     1321 cacacttaac ctacgtcacg ttgccgctgc atcggatttt aacagacatc ctggaagttc
     1381 ggcagaagcc catcctgatg acctagccgc gtgcggagcc tgcgcagagc cccggccggg
     1441 cccagccctc ggagtgctgc caagtgccta cctgtccacc gccaccgggg tctgcgatgg
     1501 cacgccagtg ctggagccgc agccaggcga ggccactcga ctcccggggc cggggccgac
     1561 tccacgaaca ccagcccaaa ctgaagtgcc tcttccctcc cctgctggcg ctgctccgcc
     1621 ctgtgccccc cgcccatcgc cccccaccca tctctggaga gccctctgca cccaaagagg
     1681 actagagatg ccgagcggcc atgagagaga gcggaaggag cagctgatgc ccagagcggg
     1741 gccagagcgg cgggtctatg ttcacgtccc cccagcagca ggcggaacca cccagccagg
     1801 gcactcagtg cattggactg tccacatgtt cttgaggaaa gccggtggaa gattctggaa
     1861 tgccgtgcgg atgaacttca gcacccgagt cagtcccagc tcatcctccc cagtttacca
     1921 ctttgttcta ataggagatg ggaacacgag aagtttgatg gctttgccct gggctgggaa
     1981 tacctcaccc acgcccagtt ccagaaaggc ctccagctga gcagacggcc ccgatcccgc
     2041 cagaacggcc ttttgcttcc agccaaagaa caccgccaac acgcacacct ccaacctggg
     2101 acatcccacg ctgggcctcg cacggaggaa cctgcagaat ttggattctg agggtagtcg
     2161 ggaggcctcg gtagccaggc agaacaggat atctgccaaa gggtgtctga tgtggggtgg
     2221 ggctggcatc ctcccaggaa ggttctaggt gggaccccgt cttctggggg cgggggtgtc
     2281 ttttcatctt ccctggtttc ctagaactca cttcctttga cggcgtgtgt tggtcccatc
     2341 tctcagacca gctcactgag gcagaggagt tgctcagagg ctcacatggg cacccccatt
     2401 ggttcgtgtg agcagctgcc cagccccagg cctgccctcg gcctggtcca gcatgaaggc
     2461 gtttccatct gcaaggatgc acggtaccct ccccgagagc aggcctgtcc cctacccaac
     2521 tgggaataaa ctggaagctg ggtctctttg ttgctatgtt tttttgtttg aagttcccag
     2581 gaatatttga ggggttccgg tgatgtgttt agggatcttc tctgtggggg aaaaggaaga
     2641 ggagggtctt gttctcccat ctgtttattc tttgggctct gggaacaggg gactactttg
     2701 gggctttctc cagacttttg tatgttgtta ttaaaagcga gctattgcat ttcattctgc
     2761 ctcagtttgc ccacctgtga aatggggctg ataccaccta cctcactgaa gtcccagggt
     2821 tcaagtgtgt ggctgggtca gggcgtggtc acccgtcatt ctgcataggt cgggttggat
     2881 gttagactcc tgggatgccc tcctccccct cgccctttgt aataacctaa tctgagaccg
     2941 tgcttggtgg ggggatgtga actttctctc tcccccagca gtgtctgctc aggcctgaca
     3001 gctcagctct gcacgatttc atgttcctaa acccatgtct tagggcagca cagagccagg
     3061 tcatgtcatg ccccaaagtg tggggacaga gcctcaggga gccccgagca tggtccagcc
     3121 ccatttgagt gctctccggg gatgccaaat gctgcttcca agtttgagtc catgtggcta
     3181 aaatacaccc atttcttcag gaactcttcc cctggttgtt ctggggatct tgggagaaac
     3241 acagccctga cagctcgtcc gtgggaagat gaggcagtcc aggttgtgag gagcacagcg
     3301 gcccgccctc tgttctcaga ggtgaggggc gggagaaggt tgtctcctct ggggccagca
     3361 tttggccaag ctcggaggct tggccagcac tgctggatgg ctcagagcaa gctgggctcc
     3421 ccgtctgtaa gatggcaaaa atgctgcccc cctcacaggg tgaccatgag gaccagtcac
     3481 agtgatgtgt gaaagggctc gctggtcaca gaaacgtgta caaatcatgc tattttagag
     3541 atcagccctc aatttgtaag gcatgtgaac agggcacgcg gtgggctggt ggtttcatag
     3601 ccgacacaca gcgcctacca tgtgcagctg cctgtccgac cccatcttac agacgagaaa
     3661 accagcacac aggcaccaag gaactgtccg gaactaacag caggggccgg cgatgggagt
     3721 caaacccagg cacgcggcct ggcctgcatg ctgagccaca tggtgctgtc cggacagatg
     3781 gacagacact cggtggagtc tgcctttctc aggccctaaa tccctctcca aagggtactt
     3841 gcgatgccgg atttaaaact tgctcagagc cacttagcca cttgagaacc agacagtaag
     3901 gtgttactcc caggtttgtt tttccaaagt aacagatgac atgtggaata aagtaataga
     3961 gtaacaagtg gcagggccag aaccagggtc cccaaagtcc tggtgttggc acatttgtac
     4021 ttcttgtaag accatcttta atttttctgg gaacacacct gccttttgtg taatgcgggg
     4081 aagactaatg catggtgaca cctagttttc ctcaacagga cacttgatcc caaaacccct
     4141 ttaagacctt aggtttcctc agcggaaaac tgtactttaa tcccaaaccc cctttaagac
     4201 atattggggc tgggcgcagt ggctcacgcc tgtaatccca gcactttggg aggctgagat
     4261 gggtggatca cctgagatca ggagttcaag accagcctga ctaacatgct gaaaccccat
     4321 gtctactaaa gatagaaaaa ttagctggac atggtggcag gcacctgtaa tcccagctac
     4381 tcggaaggct gaggaaggag aatcacttga acctagtagg cagaggttgc agtgagccga
     4441 gatcacgcca ttgcattcta gcctgggcaa cgagagcgaa actctgtctc aaaaaaaaaa
     4501 aaaaaaaaaa aaaaaaaaaa aaaaaaaaag atacattggt ctttaaaccc aaaccccctt
     4561 taaggcatgt tggtctcaag gggatttggg attgaagcac agctttctgt tgaggaaacc
     4621 taggtgtcac tttttagaac attaaaaaga aagttgtagg gtgggctttt ccatttaaag
     4681 gaatgtgatg atcctaggtt ctgatgagtg ataggtggtc tccgtttata ccctttcttc
     4741 ttttggcacc tgtaagttcc ggtagtggcc atcttacatt ctcatgtcct gctggaagtg
     4801 cctagttgcc tgcaaagcca gctaaggctt attatttcaa aagaagatta tttaaaacat
     4861 gagtgacagg tagtcagaag agaacaaaag gacgcaagat actctatagc caagtcagct
     4921 tggaggcagg atgggttgct gagtgaagtc gccgctcact tttggattct tatggactgt
     4981 gagttagtct tccctctaca cggagtcaca ggaagggtat aaatgcatgt tcctgaggtg
     5041 ccctccccca aagaatgtac ctgcactcaa accaggatct gtttttgctg ttttaatcat
     5101 aaatagacta gttagtagaa gacttttgaa gaacaaagta aaactttttt ttttcattaa
     5161 aagatgtccc agaggaaagg ccctgtgcag ccagtatatt ctaatgactg cctggaccat
     5221 gtcctaatat ggtggtttta agttgttggc caaaatcctt taaagacata cgaaacatct
     5281 gccaactttt tagcgaactt aacaggtttc actgacgttt tcctcaattt ttgaatttag
     5341 gtgggatttg ctttcatgtc ctgtttcaaa aaccaagtgt ctcttgacag cccactggtt
     5401 cttcctgtcc tcttgctcta gtctgtatca gaaagcagaa tgactgtact tttgttttac
     5461 aaacaaccac ctgataggac ggacactcca cgagataagg aaaggcacgt gcccttgagc
     5521 ttgaatggaa gcagcctctg gagggggcag ccactgccct tcgagggaga gcagctcttc
     5581 agcagtggcc agagtgccac gtgactctgc agatgacccc tgggagccgg gtgatgggca
     5641 cctgctgggg cttttgtttt ttctttttca ctggctggct tgatcctcag tggcaaaagg
     5701 acccctgagc cccttctccg agccctggag cactcctcgg gacaccgagt ggcctcaggg
     5761 ctgggttcag agctcctccc gcagggggag cctcagaagt ggaggcagct gctgatgggt
     5821 gagtttacaa cttcttatcc tgcctaaggc gagtaggcgt ttttattccg tttccagtcc
     5881 ttgagctcag cagatcaaaa taacagtgac cctgcaaccc cacagagccc gcgacacgct
     5941 cgctttcttc cccgccctgc ccctttagtc cccgctctgg aaggccaggc agtttaggtg
     6001 taaataggta tcttttatgg tttccaaatg aattatttgt gtgagagtaa ttaaatctgt
     6061 aagaaaacct gttgagattc ttcactatga attatgactt ctacaacatg tattttagca
     6121 aaaacacgat gctggcctcc actggatagc tcagtatgct gattgccagt gatagttctg
     6181 tacgcgttac caacagcgtc tttattaacc ctcttccaca tccagtggaa atcattgcta
     6241 ggcggtattt gttggttggc tgttagcttt gctttatgat ttcatgtttc ttttaaaggt
     6301 tgttttgcat gttgaatatt aaattttttt tttctgtg
//
LOCUS       NM_001009881            5853 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens terminal uridylyl transferase 4 (TUT4), transcript
            variant 1, mRNA.
ACCESSION   NM_001009881
VERSION     NM_001009881.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5853)
  AUTHORS   Zhang P, Frederick MI and Heinemann IU.
  TITLE     Terminal Uridylyltransferases TUT4/7 Regulate microRNA and mRNA
            Homeostasis
  JOURNAL   Cells 11 (23), 3742 (2022)
   PUBMED   36497000
  REMARK    GeneRIF: Terminal Uridylyltransferases TUT4/7 Regulate microRNA and
            mRNA Homeostasis. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5853)
  AUTHORS   Yang A, Bofill-De Ros X, Stanton R, Shao TJ, Villanueva P and Gu S.
  TITLE     TENT2, TUT4, and TUT7 selectively regulate miRNA sequence and
            abundance
  JOURNAL   Nat Commun 13 (1), 5260 (2022)
   PUBMED   36071058
  REMARK    GeneRIF: TENT2, TUT4, and TUT7 selectively regulate miRNA sequence
            and abundance. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5853)
  AUTHORS   Stein RL and Wilson DM.
  TITLE     Kinetic and Mechanistic Studies of the Terminal Uridylyltransferase,
            Zcchc11 (TUT4)
  JOURNAL   Biochemistry 61 (15), 1614-1624 (2022)
   PUBMED   35797480
REFERENCE   4  (bases 1 to 5853)
  AUTHORS   Medhi R, Price J, Furlan G, Gorges B, Sapetschnig A and Miska EA.
  TITLE     RNA uridyl transferases TUT4/7 differentially regulate miRNA
            variants depending on the cancer cell type
  JOURNAL   RNA 28 (3), 353-370 (2022)
   PUBMED   34949722
  REMARK    GeneRIF: RNA uridyl transferases TUT4/7 differentially regulate
            miRNA variants depending on the cancer cell type.
REFERENCE   5  (bases 1 to 5853)
  AUTHORS   Gaza A, Fritz V, Malek L, Wormser L, Treiber N, Danner J, Kremer AE,
            Thasler WE, Siebler J, Meister G, Neurath MF, Hellerbrand C,
            Bosserhoff AK and Dietrich P.
  TITLE     Identification of novel targets of miR-622 in hepatocellular
            carcinoma reveals common regulation of cooperating genes and
            outlines the oncogenic role of zinc finger CCHC-type containing 11
  JOURNAL   Neoplasia 23 (5), 502-514 (2021)
   PUBMED   33901943
  REMARK    GeneRIF: Identification of novel targets of miR-622 in
            hepatocellular carcinoma reveals common regulation of cooperating
            genes and outlines the oncogenic role of zinc finger CCHC-type
            containing 11.
REFERENCE   6  (bases 1 to 5853)
  AUTHORS   Jones MR, Quinton LJ, Blahna MT, Neilson JR, Fu S, Ivanov AR, Wolf
            DA and Mizgerd JP.
  TITLE     Zcchc11-dependent uridylation of microRNA directs cytokine
            expression
  JOURNAL   Nat Cell Biol 11 (9), 1157-1163 (2009)
   PUBMED   19701194
  REMARK    GeneRIF: Zcchc11 fine tunes IL-6 production by uridylating miR-26a.
REFERENCE   7  (bases 1 to 5853)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   8  (bases 1 to 5853)
  AUTHORS   Mullen TE and Marzluff WF.
  TITLE     Degradation of histone mRNA requires oligouridylation followed by
            decapping and simultaneous degradation of the mRNA both 5' to 3' and
            3' to 5'
  JOURNAL   Genes Dev 22 (1), 50-65 (2008)
   PUBMED   18172165
REFERENCE   9  (bases 1 to 5853)
  AUTHORS   Minoda Y, Saeki K, Aki D, Takaki H, Sanada T, Koga K, Kobayashi T,
            Takaesu G and Yoshimura A.
  TITLE     A novel Zinc finger protein, ZCCHC11, interacts with TIFA and
            modulates TLR signaling
  JOURNAL   Biochem Biophys Res Commun 344 (3), 1023-1030 (2006)
   PUBMED   16643855
  REMARK    GeneRIF: We propose that ZCCHC11 is a unique TLR signal regulator,
            which interacts with TIFA after LPS treatment and suppresses the
            TRAF6-dependent activation of NF-kappaB. Erratum:[Biochem Biophys
            Res Commun. 2007 Feb 23;353(4):1121]
REFERENCE   10  (bases 1 to 5853)
  AUTHORS   Keller,W. and Martin,G.
  TITLE     Gene regulation: reviving the message
  JOURNAL   Nature 419 (6904), 267-268 (2002)
   PUBMED   12239557
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.215775.1,
            SRR1803614.237487.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000257177.9/ ENSP00000257177.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL591167.6, DA748708.1, BC131734.1, AL138849.12 and AK025698.1.
            On Nov 22, 2018 this sequence version replaced NM_001009881.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5853
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     gene            1..5853
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="terminal uridylyl transferase 4"
                     /db_xref="GeneID:23318"
                     /db_xref="HGNC:HGNC:28981"
                     /db_xref="MIM:613692"
     misc_feature    220..222
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="upstream in-frame stop codon"
     CDS             256..5193
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /EC_number="2.7.7.52"
                     /note="isoform a is encoded by transcript variant 1; PAP
                     associated domain containing 3; zinc finger CCHC-type
                     containing 11; terminal uridylyltransferase 4; TUTase 4;
                     zinc finger CCHC domain-containing protein 11; zinc finger,
                     CCHC domain containing 11"
                     /codon_start=1
                     /product="terminal uridylyltransferase 4 isoform a"
                     /protein_id="NP_001009881.1"
                     /db_xref="CCDS:CCDS30715.1"
                     /db_xref="GeneID:23318"
                     /db_xref="HGNC:HGNC:28981"
                     /db_xref="MIM:613692"
                     /translation="MEESKTLKSENHEPKKNVICEESKAVQVIGNQTLKARNDKSVKEI
                     ENSSPNRNSSKKNKQNDICIEKTEVKSCKVNAANLPGPKDLGLVLRDQSHCKAKKFPNS
                     PVKAEKATISQAKSEKATSLQAKAEKSPKSPNSVKAEKASSYQMKSEKVPSSPAEAEKG
                     PSLLLKDMRQKTELQQIGKKIPSSFTSVDKVNIEAVGGEKCALQNSPRSQKQQTCTDNT
                     GDSDDSASGIEDVSDDLSKMKNDESNKENSSEMDYLENATVIDESALTPEQRLGLKQAE
                     ERLERDHIFRLEKRSPEYTNCRYLCKLCLIHIENIQGAHKHIKEKRHKKNILEKQEESE
                     LRSLPPPSPAHLAALSVAVIELAKEHGITDDDLRVRQEIVEEMSKVITTFLPECSLRLY
                     GSSLTRFALKSSDVNIDIKFPPKMNHPDLLIKVLGILKKNVLYVDVESDFHAKVPVVVC
                     RDRKSGLLCRVSAGNDMACLTTDLLTALGKIEPVFIPLVLAFRYWAKLCYIDSQTDGGI
                     PSYCFALMVMFFLQQRKPPLLPCLLGSWIEGFDPKRMDDFQLKGIVEEKFVKWECNSSS
                     ATEKNSIAEENKAKADQPKDDTKKTETDNQSNAMKEKHGKSPLALETPNRVSLGQLWLE
                     LLKFYTLDFALEEYVICVRIQDILTRENKNWPKRRIAIEDPFSVKRNVARSLNSQLVYE
                     YVVERFRAAYRYFACPQTKGGNKSTVDFKKREKGKISNKKPVKSNNMATNGCILLGETT
                     EKINAEREQPVQCDEMDCTSQRCIIDNNNLLVNELDFADHGQDSSSLSTSKSSEIEPKL
                     DKKQDDLAPSETCLKKELSQCNCIDLSKSPDPDKSTGTDCRSNLETESSHQSVCTDTSA
                     TSCNCKATEDASDLNDDDNLPTQELYYVFDKFILTSGKPPTIVCSICKKDGHSKNDCPE
                     DFRKIDLKPLPPMTNRFREILDLVCKRCFDELSPPCSEQHNREQILIGLEKFIQKEYDE
                     KARLCLFGSSKNGFGFRDSDLDICMTLEGHENAEKLNCKEIIENLAKILKRHPGLRNIL
                     PITTAKVPIVKFEHRRSGLEGDISLYNTLAQHNTRMLATYAAIDPRVQYLGYTMKVFAK
                     RCDIGDASRGSLSSYAYILMVLYFLQQRKPPVIPVLQEIFDGKQIPQRMVDGWNAFFFD
                     KTEELKKRLPSLGKNTESLGELWLGLLRFYTEEFDFKEYVISIRQKKLLTTFEKQWTSK
                     CIAIEDPFDLNHNLGAGVSRKMTNFIMKAFINGRKLFGTPFYPLIGREAEYFFDSRVLT
                     DGELAPNDRCCRVCGKIGHYMKDCPKRKSSLLFRLKKKDSEEEKEGNEEEKDSRDVLDP
                     RDLHDTRDFRDPRDLRCFICGDAGHVRRECPEVKLARQRNSSVAAAQLVRNLVNAQQVA
                     GSAQQQGDQSIRTRQSSECSESPSYSPQPQPFPQNSSQSAAITQPSSQPGSQPKLGPPQ
                     QGAQPPHQVQMPLYNFPQSPPAQYSPMHNMGLLPMHPLQIPAPSWPIHGPVIHSAPGSA
                     PSNIGLNDPSIIFAQPAARPVAIPNTSHDGHWPRTVAPNSLVNSGAVGNSEPGFRGLTP
                     PIPWEHAPRPHFPLVPASWPYGLHQNFMHQGNARFQPNKPFYTQDRCATRRCRERCPHP
                     PRGNVSE"
     misc_feature    346..444
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TAX3.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    541..759
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TAX3.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    565..567
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5TAX3.3); phosphorylation site"
     misc_feature    655..657
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B2RX14; propagated from
                     UniProtKB/Swiss-Prot (Q5TAX3.3); phosphorylation site"
     misc_feature    721..723
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5TAX3.3); phosphorylation site"
     misc_feature    868..1026
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TAX3.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1012..1254
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TAX3.3);
                     Region: Required for interaction with LIN28A and pre-let-7
                     RNA. /evidence=ECO:0000269|PubMed:31036859"
     misc_feature    1990..2106
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TAX3.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2635..2703
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TAX3.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4219..4302
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TAX3.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4459..4704
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TAX3.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5128..5130
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:B2RX14; propagated from
                     UniProtKB/Swiss-Prot (Q5TAX3.3); methylation site"
     regulatory      5710..5715
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="hexamer: AATAAA"
     polyA_site      5728
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="major polyA site"
     regulatory      5828..5833
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="hexamer: AATAAA"
     polyA_site      5853
                     /gene="TUT4"
                     /gene_synonym="PAPD3; TENT3A; ZCCHC11"
                     /note="major polyA site"
ORIGIN
        1 agttcgcggc gcggcggaca tggcggtgga gtcctgagct agtcgtgtcc cggcctccag
       61 cggcggcagc ggcgacggcg gcggcagcag gaggcggagg gagagcagga gccactgaga
      121 tgaggaggcg tcgcgcgcgc ctgtagctcg cgggcctcgc agtttgcttg cctaaactgg
      181 acttgaagca atttaaacta ctggagatct gccattttat aatatcacaa ttggaaagaa
      241 acagattttc aaataatgga agagtctaaa accttaaaaa gtgaaaatca tgaaccaaag
      301 aagaatgtta tttgtgaaga aagcaaagca gttcaagtta taggtaatca aacattgaaa
      361 gctagaaatg ataaatccgt aaaagaaatt gagaacagct ctccaaatag gaatagtagt
      421 aaaaaaaata agcaaaatga tatttgtata gaaaaaacag aagttaaatc atgtaaagta
      481 aatgctgcca accttccagg tcctaaagat ttggggttag tccttcgaga tcaaagtcat
      541 tgcaaagcaa aaaaatttcc taattcaccg gtgaaagccg aaaaggcaac catttcacag
      601 gcaaaatcag aaaaggcaac cagtttacag gcaaaagcag aaaaatcacc aaagtcacct
      661 aattcagtga aagcagaaaa agcatccagt tatcagatga agtcagaaaa agtaccaagt
      721 tcaccagcag aagcagaaaa gggacccagt ttactgttga aagacatgag acagaagaca
      781 gaattacaac agattggaaa aaaaattcca agctccttta cttctgtgga caaagtgaat
      841 attgaagctg tagggggaga aaaatgtgct ctgcaaaact caccacgatc tcagaagcaa
      901 cagacatgta cagataatac tggtgattct gatgatagtg cttcaggaat tgaagacgta
      961 tcggacgatt taagtaaaat gaagaatgat gaatctaata aagaaaattc ttcagagatg
     1021 gactacttag aaaatgccac tgtgatagat gaatctgcat tgacacctga gcagaggctg
     1081 gggttgaaac aagcagaaga acgcttagaa agagatcaca tctttcgact tgaaaaacga
     1141 tcaccagaat ataccaattg tcggtatcta tgcaaacttt gcttaattca cattgaaaat
     1201 atccaggggg ctcataaaca tataaaggag aaacgacata agaaaaatat tttggaaaaa
     1261 caagaagaaa gtgagcttcg ttctctgcca cctccttccc ctgcccactt ggctgcttta
     1321 agtgttgcag tcattgaatt agcaaaagaa catggaataa cagatgatga cctcagagtc
     1381 cgtcaggaaa ttgtggagga aatgtcaaag gttataacga catttttacc agaatgttca
     1441 cttaggttgt atggctcatc tctgactaga tttgctctga aaagtagtga tgttaatata
     1501 gatataaaat ttcctcccaa gatgaatcat ccagatcttc tgataaaagt acttgggatt
     1561 ttaaagaaaa atgtattata tgtagatgtg gaatctgatt ttcacgctaa agttcctgtt
     1621 gtggtgtgca gagatcgaaa aagtggttta ctttgtagag tgagtgcagg aaacgatatg
     1681 gcatgtctca ctactgattt acttactgcc cttggcaaaa tagaacctgt ctttattccc
     1741 ttggtgttag cctttcgcta ctgggctaag ttgtgctata ttgactccca aactgatggt
     1801 ggaatccctt cttactgttt tgctttaatg gtgatgtttt ttctacaaca gagaaaaccc
     1861 cctcttcttc cttgcttact tggaagttgg attgaaggct ttgacccaaa aagaatggat
     1921 gactttcagc tgaagggcat agtagaagag aagtttgtga agtgggaatg taattcaagt
     1981 agtgcaactg agaaaaactc aattgctgag gaaaacaaag ctaaggcaga ccaaccaaaa
     2041 gatgatacca agaagacaga aacagacaac caaagtaatg ccatgaagga aaaacatggc
     2101 aaatctcctt tagcattgga aacaccaaat cgggtatcct tgggacagtt atggttagag
     2161 ctgcttaaat tctacacact ggattttgct ttggaggaat atgtcatatg tgtacggata
     2221 caagatattt taacaagaga aaataaaaac tggcctaaaa ggcgaatagc cattgaagat
     2281 ccattttcag tcaagaggaa tgttgcacgg agcttaaaca gccagctggt ttacgaatat
     2341 gttgtggaga gatttagggc agcttatcgg tattttgcct gtcctcagac gaagggtgga
     2401 aataagtcta cagtggattt caagaaaaga gagaagggga aaataagcaa taagaaacca
     2461 gtcaagtcga acaatatggc aaccaatggt tgtattctgc ttggggaaac cacagaaaaa
     2521 ataaatgcag aaagagagca acctgttcaa tgtgatgaaa tggactgtac atcacagaga
     2581 tgtattattg acaacaacaa tttgttggta aatgaactag attttgctga ccacggacag
     2641 gactcttcat ctctttctac cagcaaaagc agtgaaatag agccaaaatt agataagaaa
     2701 caagatgatt tagcgccttc agaaacttgt ttaaaaaaag agctcagcca atgtaattgc
     2761 attgatttgt ctaagtcgcc tgacccagat aaatctactg gaacagactg caggtcaaat
     2821 ttagaaacag agagttcaca tcagagtgtg tgcaccgaca catctgctac ctcttgcaac
     2881 tgcaaagcta cagaagatgc ttctgacctt aatgatgatg ataacctccc cacccaggaa
     2941 ttatattatg tgtttgataa gtttatttta acctctggca agccaccaac gatagtatgc
     3001 agcatctgca aaaaggatgg ccattcaaag aatgattgcc cagaggattt taggaaaatt
     3061 gatttaaaac ctctaccacc aatgacaaac cgatttcggg aaatacttga tttagtatgt
     3121 aaaagatgtt ttgatgagtt atcaccacct tgttctgaac aacacaacag ggagcaaatt
     3181 ttaattggct tggaaaagtt tattcaaaaa gaatatgatg aaaaggcaag gttgtgctta
     3241 tttggctctt ctaagaatgg atttggattt cgtgatagtg atctggatat ttgtatgacc
     3301 ctggaaggcc atgaaaatgc agagaaatta aattgtaagg aaataattga aaatttggca
     3361 aaaattctta agagacatcc aggtttaaga aacattttgc ctataactac tgccaaagtg
     3421 cctatagtaa aatttgaaca caggcgaagt gggttagaag gcgatatcag tttatataat
     3481 acgttggctc aacataacac aagaatgcta gctacttatg cagctattga tcctagagtg
     3541 cagtatttgg gatatactat gaaagtgttt gctaagcgat gtgacattgg ggatgcttcc
     3601 aggggaagtt tatcttcata tgcatatatc cttatggtgc tgtactttct gcagcagaga
     3661 aagccacctg ttatcccagt tctacaagag atctttgatg gaaaacagat tccacagaga
     3721 atggttgatg gatggaatgc tttcttcttt gataaaacag aagaactgaa aaagcgttta
     3781 ccttcacttg gaaagaacac agaatcatta ggggagcttt ggctgggact gcttcgtttc
     3841 tatactgaag agtttgattt caaggaatat gtaattagca ttcggcagaa aaagctgttg
     3901 acaacttttg agaagcagtg gacttccaag tgcattgcaa ttgaagaccc ttttgacttg
     3961 aatcataacc ttggtgctgg agtttccaga aaaatgacca atttcatcat gaaagcattt
     4021 atcaatggaa ggaaactttt tggtacccct ttttatccac tcattggcag agaagctgag
     4081 tacttctttg attccagagt attaacagat ggagaactgg ctcccaatga tagatgttgc
     4141 cgtgtgtgtg gaaaaatagg ccactacatg aaagactgcc ctaaaaggaa aagcagttta
     4201 ctgtttagac taaagaagaa agacagtgaa gaagagaagg aagggaatga agaagagaaa
     4261 gattcccgag atgttcttga cccccgagac ctccacgata ctcgagactt tagagacccg
     4321 agagacctca gatgttttat atgtggagat gctggacatg tacgaaggga gtgcccagag
     4381 gtcaagctgg cccgtcagag gaatagcagt gtggcagcag cccagctggt ccgcaacctt
     4441 gtaaatgctc aacaggtggc tggttcagct cagcaacagg gtgatcagtc cataaggact
     4501 agacagtcat cagaatgttc tgaatcacca tcttattctc ctcagcctca gccatttcca
     4561 cagaactctt cccagtcagc tgctattact cagccttcat ctcagccagg atcccaacct
     4621 aagcttggcc cacctcagca gggagcccaa cctccccatc aggtccagat gccactgtat
     4681 aactttcccc agtcaccacc agctcagtat tctcccatgc acaatatggg attgttgcca
     4741 atgcaccctc tccagatccc tgccccgtcc tggcccatcc atggcccagt gatccactct
     4801 gcaccaggca gtgcccccag caatattggc ctaaatgatc ccagcatcat ctttgcacag
     4861 cctgctgcca gacctgtggc aatccctaac acgtctcacg atggacactg gccccgtact
     4921 gtggctccaa attccctggt aaacagtggt gcagtgggga attcagagcc aggctttcga
     4981 ggactgactc ctccaattcc ttgggaacat gcaccgcgtc cccatttccc ccttgtccca
     5041 gcttcgtggc cttatggttt gcatcaaaac ttcatgcatc agggaaatgc ccgattccag
     5101 cccaacaaac ctttctatac tcaagacaga tgtgccaccc gtcggtgtag agagcgttgt
     5161 ccccacccac caagaggaaa cgtgtcggag taatgcgagt ccattttctt tcagctggtc
     5221 taccgatgca cagcaaccag ccaatcctgc tgtctcaagg gtatccgtac ctcaatgtca
     5281 gttacattca gcagaaaaag tgacatttaa tggaaagcaa aacaaatcag gtcctgattt
     5341 aaaattttaa cacgtttaga tagcttattt aaattctaag actgttttta cagactgtat
     5401 tatttgtata taaatatgaa ctatagtttt tactagtatc accaaattga gtgatacaaa
     5461 tttcatctat tttattaccc tatttttaag ggaattttat gttttgttta accttgatga
     5521 attgtataaa gagagaattt aaaaaattac attctttatt ttctattagc tgtattcata
     5581 ctttggttgc ttcagacttt atatattgtt cttaaaagtt aggaaagaat ttcatgtgtt
     5641 ttaaattgtc acttctattc tttacagaac cttgtagtgc caaaaacttt ttaaaaggta
     5701 aaaaaataaa ataaaattac aacatgaaga ttcagatttt ttttcttttc catacttgta
     5761 tattgaacat tcaaacttga atggaaagtt gattttgtct gtatttgaag tacttctatt
     5821 ttaagttaat aaatcttttt gacaagagtt aaa
//
LOCUS       NM_001009894            2829 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens RNA 5'-phosphate and 3'-OH ligase 1 (RLIG1), mRNA.
ACCESSION   NM_001009894
VERSION     NM_001009894.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2829)
  AUTHORS   Yuan Y, Stumpf FM, Schlor LA, Schmidt OP, Saumer P, Huber LB, Frese
            M, Hollmuller E, Scheffner M, Stengel F, Diederichs K and Marx A.
  TITLE     Chemoproteomic discovery of a human RNA ligase
  JOURNAL   Nat Commun 14 (1), 842 (2023)
   PUBMED   36792600
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2829)
  AUTHORS   Goldstein JI, Jarskog LF, Hilliard C, Alfirevic A, Duncan L,
            Fourches D, Huang H, Lek M, Neale BM, Ripke S, Shianna K,
            Szatkiewicz JP, Tropsha A, van den Oord EJ, Cascorbi I, Dettling M,
            Gazit E, Goff DC, Holden AL, Kelly DL, Malhotra AK, Nielsen J,
            Pirmohamed M, Rujescu D, Werge T, Levy DL, Josiassen RC, Kennedy JL,
            Lieberman JA, Daly MJ and Sullivan PF.
  TITLE     Clozapine-induced agranulocytosis is associated with rare HLA-DQB1
            and HLA-B alleles
  JOURNAL   Nat Commun 5, 4757 (2014)
   PUBMED   25187353
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX640968.1, AK095477.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000356891.4/ ENSP00000349358.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK095477.1, CR936776.1, BC058014.1 and AL049382.1.
            On Nov 23, 2018 this sequence version replaced NM_001009894.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2829
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.32"
     gene            1..2829
                     /gene="RLIG1"
                     /gene_synonym="C12orf29; Rnl"
                     /note="RNA 5'-phosphate and 3'-OH ligase 1"
                     /db_xref="GeneID:91298"
                     /db_xref="HGNC:HGNC:25322"
     misc_feature    18..20
                     /gene="RLIG1"
                     /gene_synonym="C12orf29; Rnl"
                     /note="upstream in-frame stop codon"
     CDS             114..1091
                     /gene="RLIG1"
                     /gene_synonym="C12orf29; Rnl"
                     /EC_number="6.5.1.3"
                     /note="uncharacterized protein C12orf29; RNA ligase"
                     /codon_start=1
                     /product="RNA ligase 1"
                     /protein_id="NP_001009894.2"
                     /db_xref="CCDS:CCDS31866.1"
                     /db_xref="GeneID:91298"
                     /db_xref="HGNC:HGNC:25322"
                     /translation="MKRLGSVQRKMPCVFVTEVKEEPSSKREHQPFKVLATETVSHKAL
                     DADIYSAIPTEKVDGTCCYVTTYKDQPYLWARLDRKPNKQAEKRFKNFLHSKENPKEFF
                     WNVEEDFKPAPECWIPAKETEQINGNPVPDENGHIPGWVPVEKNNKQYCWHSSVVNYEF
                     EIALVLKHHPDDSGLLEISAVPLSDLLEQTLELIGTNINGNPYGLGSKKHPLHLLIPHG
                     AFQIRNLPSLKHNDLVSWFEDCKEGKIEGIVWHCSDGCLIKVHRHHLGLCWPIPDTYMN
                     SRPVIINMNLNKCDSAFDIKCLFNHFLKIDNQKFVRLKDIIFDV"
     regulatory      2807..2812
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RLIG1"
                     /gene_synonym="C12orf29; Rnl"
                     /note="hexamer: AATAAA"
     polyA_site      2829
                     /gene="RLIG1"
                     /gene_synonym="C12orf29; Rnl"
                     /note="major polyA site"
ORIGIN
        1 gcggagtgtg cgtggcctga gccgtgcggg tgactgcttc agggcttctc cgcgactgga
       61 ccgggcgccg ctcgaaagca cgccctccat tcgcactgct tgttgggctc atcatgaagc
      121 gcttgggctc cgtgcagcgg aaaatgccgt gtgtgtttgt gacggaggtg aaagaggagc
      181 cttcctccaa aagggagcat cagccattta aagttttggc aactgaaact gtaagtcaca
      241 aggcattaga tgcagatata tacagtgcaa ttccaacaga aaaagtggat ggaacatgtt
      301 gttatgttac tacctataaa gatcagccat acctttgggc tcgactagat agaaaaccca
      361 acaaacaagc tgaaaaaaga tttaaaaatt ttctacattc aaaagaaaac ccaaaagaat
      421 ttttttggaa cgttgaggag gacttcaaac cagctccgga gtgctggata ccagcaaagg
      481 agacagaaca aataaatggg aacccagtgc ctgatgaaaa tggacacatt cctggttggg
      541 taccagtaga gaaaaacaac aaacagtatt gctggcattc ctctgtagtt aattatgaat
      601 ttgaaattgc cctggtacta aaacatcatc ctgatgattc tggacttttg gaaattagtg
      661 cagtgccact ttcagatctc ttagaacaaa cactggaact cataggaaca aatatcaatg
      721 gaaacccata tgggttaggg agcaagaaac atccattaca tcttcttata ccacatggag
      781 catttcaaat aagaaatcta ccttcattga agcacaatga tctcgtgtcc tggtttgaag
      841 attgcaaaga gggtaaaatt gaaggaatag tgtggcattg cagtgatggc tgtttaataa
      901 aggtccatcg ccatcatctt ggcttatgct ggccaattcc agatacttac atgaattcaa
      961 gaccagttat tatcaacatg aacctgaaca aatgtgactc tgcctttgat attaagtgtt
     1021 tgtttaatca ttttttaaaa atagataatc agaaatttgt tagactcaaa gatataatat
     1081 ttgatgtata aaatgcaaat aaaattagtt tatcattata ttctaatctt gaatattcta
     1141 ccatatttaa aaatatctca aggtttctgt tcattatgaa acatcaatat gttttctacc
     1201 atttgtgaag aaatgaattt tccagtttca agtacctatt caaaatttta ttaaaaacca
     1261 gcaaattaat tttaatctct agccataaaa acataagtaa tagtaagctc ctaagcttgg
     1321 acaaaggctg gattctcttc actataactg agtggtaatt taaagacaac aatttaatgt
     1381 cactaatttt caaaattaaa tagtttaagc tcaatttaat tttgctagat atttaacaaa
     1441 acatacggct caacctcata acctatatgt gtgtatgtct acatctgtgt atatatcata
     1501 ggatttgaga atcttaacac atgtataaat aagtatatat aaactccaat tttaaatctt
     1561 aaaattgctg aatttaccct catattcttt aaaaaactta aagcattatg aatgtagaga
     1621 aattcaccag agctcactgc ctatttgatg gctgtaacaa gtcttcaagt atatactttt
     1681 ataataagtt gaaaatttca tataatttta tttattaaga attccaatct aagtataaag
     1741 gtacaaggta gtgagaagga aatactacag ttcggagaac tgcttatttc caagtatatt
     1801 taacttataa agttaataaa tagttaaatg aaacaaagtt tataggtgac ctttagtaaa
     1861 tggggaaatt aacaggactt tcttcttcat cttcaaactc ttcagaagca gcaacagggc
     1921 tagttaattc aactcccaat tgttctgaaa gtttttttac cttctcttct aagagaatat
     1981 tcttcttcac ttcttccttg taattatact taagatcttc aatttcttca aaaaatgaag
     2041 gatcaaaatt ttccagttct tttttcagct tctttatttc ctcctaatgg aaacattatc
     2101 tttaaaagtt gcatatagga aatatacata ttttacgttt gaacaaggag atttaattgt
     2161 aaatatgaaa gccaaagtat tcctgaatgg tcaaatacag caataaaggc agaagaatta
     2221 agatttttct ttgttccatt gtacagtgta aataactaag ttgttaactg tcaagtccag
     2281 ttatgtattc tgtaagttgt gttctagtct ttgactaaaa tttatcatct cttataatgg
     2341 gacttaatct ttctctaaaa gcatataaga gcttgtcaat agagcaatca atcaaaaaga
     2401 ttttgtgatt cataacattg aagttagtct ggttaagagt tttggtttag acttcattta
     2461 tattttcctt actaatatct aatatttaat gaataatgat caatttttta taaagttatt
     2521 aatatgatca gggaaacctt tgggacttct gacaggcatc tggtgaagag acaattcaag
     2581 ccttagtgac tatttagaat agccagtgat cactagctaa ttctcatatc catgcctttt
     2641 tgtcctgttt acagtcttaa aagaggtaaa acagcaaata tttttttaag ggaactataa
     2701 ccttaggatt cctgaaaaga atttcaaaaa aaaaataaag acactgttgc caatgtgacc
     2761 caaaacttaa gaacatacta atggcatata tttgttacaa ttaaaaaata aatttactac
     2821 ttaatccta
//
LOCUS       NM_001009899           13704 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens upstream transcription factor family member 3 (USF3),
            transcript variant 1, mRNA.
ACCESSION   NM_001009899
VERSION     NM_001009899.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 13704)
  AUTHORS   Ye W, Wang Y, Hou S, Mei B, Liu X, Huang H, Zhou Q, Niu Y, Chen Y,
            Zhang M and Huang Q.
  TITLE     USF3 modulates osteoporosis risk by targeting WNT16, RANKL, RUNX2,
            and two GWAS lead SNPs rs2908007 and rs4531631
  JOURNAL   Hum Mutat 42 (1), 37-49 (2021)
   PUBMED   33058301
  REMARK    GeneRIF: USF3 modulates osteoporosis risk by targeting WNT16, RANKL,
            RUNX2, and two GWAS lead SNPs rs2908007 and rs4531631.
REFERENCE   2  (bases 1 to 13704)
  AUTHORS   Wang Y, Ye W, Liu Y, Mei B, Liu X and Huang Q.
  TITLE     Osteoporosis genome-wide association study variant c.3781 C>A is
            regulated by a novel anti-osteogenic factor miR-345-5p
  JOURNAL   Hum Mutat 41 (3), 709-718 (2020)
   PUBMED   31883164
  REMARK    GeneRIF: Osteoporosis genome-wide association study variant c.3781
            C>A is regulated by a novel anti-osteogenic factor miR-345-5p.
REFERENCE   3  (bases 1 to 13704)
  AUTHORS   Ni Y, Seballos S, Fletcher B, Romigh T, Yehia L, Mester J, Senter L,
            Niazi F, Saji M, Ringel MD, LaFramboise T and Eng C.
  TITLE     Germline compound heterozygous poly-glutamine deletion in USF3 may
            be involved in predisposition to heritable and sporadic epithelial
            thyroid carcinoma
  JOURNAL   Hum Mol Genet 26 (2), 243-257 (2017)
   PUBMED   28011713
  REMARK    GeneRIF: Therefore, USF3 may be involved in the predisposition of
            thyroid cancer. Importantly, the results that glutamine-dependent
            survival and sensitivity to ER stress in USF3-deficient cells
            provide avenues for therapeutic and adjunct preventive interventions
            for both sporadic cancer as well as cancer predisposition syndromes
            with similar mechanisms.
REFERENCE   4  (bases 1 to 13704)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2922747.1,
            SRR14038197.346006.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000316407.9/ ENSP00000320794.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC108693.5, AC055740.17 and
            KF457673.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001009899.3.
            Summary: This gene encodes a large protein that contains a
            helix-loop-helix domain and a polyglutamine region. A deletion in
            the polyglutamine region was associated with risk for thyroid
            carcinoma. [provided by RefSeq, May 2017].
            Transcript Variant: This variant (1) represent the longer
            transcript and encodes the protein.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..13704
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.2"
     gene            1..13704
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="upstream transcription factor family member 3"
                     /db_xref="GeneID:205717"
                     /db_xref="HGNC:HGNC:30494"
                     /db_xref="MIM:617568"
     misc_feature    387..389
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="upstream in-frame stop codon"
     CDS             408..7145
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /codon_start=1
                     /product="basic helix-loop-helix domain-containing protein
                     USF3"
                     /protein_id="NP_001009899.3"
                     /db_xref="CCDS:CCDS43133.1"
                     /db_xref="GeneID:205717"
                     /db_xref="HGNC:HGNC:30494"
                     /db_xref="MIM:617568"
                     /translation="MPEMTENETPTKKQHRKKNRETHNAVERHRKKKINAGINRIGELI
                     PCSPALKQSKNMILDQAFKYITELKRQNDELLLNGGNNEQAEEIKKLRKQLEEIQKENG
                     RYIELLKANDICLYDDPTIHWKGNLKNSKVSVVIPSDQVQKKIIVYSNGNQPGGNSQGT
                     AVQGITFNVSHNLQKQTANVVPVQRTCNLVTPVSISGVYPSENKPWHQTTVPALATNQP
                     VPLCLPAAISAQSILELPTSESESNVLGATSGSLIAVSIESEPHQHHSLHTCLNDQNSS
                     ENKNGQENPKVLKKMTPCVTNIPHSSSATATKVHHGNKSCLSIQDFRGDFQNTFVVSVT
                     TTVCSQPPRTAGDSSPMSISKSADLTSTATVVASSAPGVGKATIPISTLSGNPLDNGWT
                     LSCSLPSSSVSTSDLKNINSLTRISSAGNTQTTWTTLQLAGNTIQPLSQTPSSAVTPVL
                     NESGTSPTTSNHSRYVATDINLNNSFPADGQPVEQVVVTLPSCPSLPMQPLIAQPQVKS
                     QPPKNILPLNSAMQVIQMAQPVGSAVNSAPTNQNVIILQPPSTTPCPTVMRAEVSNQTV
                     GQQIVIIQAANQNPLPLLPAPPPGSVRLPINGANTVIGSNNSVQNVPTPQTFGGKHLVH
                     ILPRPSSLSASNSTQTFSVTMSNQQPQTISLNGQLFALQPVMSSSGTTNQTPMQIIQPT
                     TSEDPNTNVALNTFGALASLNQSISQMAGQSCVQLSISQPANSQTAANSQTTTANCVSL
                     TTTAAPPVTTDSSATLASTYNLVSTSSMNTVACLPNMKSKRLNKKPGGRKHLAANKSAC
                     PLNSVRDVSKLDCPNTEGSAEPPCNDGLLESFPAVLPSVSVSQANSVSVSASHSLGVLS
                     SESLIPESVSKSKSAEKSSPPSQESVTSEHFAMAAAKSKDSTPNLQQETSQDKPPSSLA
                     LSDAAKPCASANVLIPSPSDPHILVSQVPGLSSTTSTTSTDCVSEVEIIAEPCRVEQDS
                     SDTMQTTGLLKGQGLTTLLSDLAKKKNPQKSSLSDQMDHPDFSSENPKIVDSSVNLHPK
                     QELLLMNNDDRDPPQHHSCLPDQEVINGSLINGRQADSPMSTSSGSSRSFSVASMLPET
                     TREDVTSNATTNTCDSCTFVEQTDIVALAARAIFDQENLEKGRVGLQADIREVASKPSE
                     ASLLEGDPPFKSQIPKESGTGQAEATPNEFNSQGSIEATMERPLEKPSCSLGIKTSNAS
                     LQDSTSQPPSITSLSVNNLIHQSSISHPLASCAGLSPTSEQTTVPATVNLTVSSSSYGS
                     QPPGPSLMTEYSQEQLNTMTSTIPNSQIQEPLLKPSHESRKDSAKRAVQDDLLLSSAKR
                     QKHCQPAPLRLESMSLMSRTPDTISDQTQMMVSQIPPNSSNSVVPVSNPAHGDGLTRLF
                     PPSNNFVTPALRQTEVQCGSQPSVAEQQQTQASQHLQALQQHVPAQGVSHLHSNHLYIK
                     QQQQQQQQQQQQQQQQQAGQLRERHHLYQMQHHVPHAESSVHSQPHNVHQQRTLQQEVQ
                     MQKKRNLVQGTQTSQLSLQPKHHGTDQSRSKTGQPHPHHQQMQQQMQQHFGSSQTEKSC
                     ENPSTSRNHHNHPQNHLNQDIMHQQQDVGSRQQGSGVSSEHVSGHNPMQRLLTSRGLEQ
                     QMVSQPSIVTRSSDMTCTPHRPERNRVSSYSAEALIGKTSSNSEQRMGISIQGSRVSDQ
                     LEMRSYLDVPRNKSLAIHNMQGRVDHTVASDIRLSDCQTFKPSGASQQPQSNFEVQSSR
                     NNEIGNPVSSLRSMQSQAFRISQNTGPPPIDRQKRLSYPPVQSIPTGNGIPSRDSENTC
                     HQSFMQSLLAPHLSDQVIGSQRSLSEHQRNTQCGPSSAIEYNCPPTHENVHIRRESESQ
                     NRESCDMSLGAINTRNSTLNIPFSSSSSSGDIQGRNTSPNVSVQKSNPMRITESHATKG
                     HMNPPVTTNMHGVARPALPHPSVSHGNGDQGPAVRQANSSVPQRSRHPLQDSSGSKIRQ
                     PERNRSGNQRQSTVFDPSLPHLPLSTGGSMILGRQQPATEKRGSIVRFMPDSPQVPNDN
                     SGPDQHTLSQNFGFSFIPEGGMNPPINANASFIPQVTQPSATRTPALIPVDPQNTLPSF
                     YPPYSPAHPTLSNDISIPYFPNQMFSNPSTEKVNSGSLNNRFGSILSPPRPVGFAQPSF
                     PLLPDMPPMHMTNSHLSNFNMTSLFPEIATALPDGSAMSPLLTIANSSASDSSKQSSNR
                     PAHNISHILGHDCSSAV"
     misc_feature    408..491
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DE3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1218..1277
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DE3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1746..1817
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DE3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3048..3107
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DE3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3123..3206
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DE3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3450..3530
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DE3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3897..4121
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DE3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4326..4400
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DE3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4785..5279
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DE3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5313..5399
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DE3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5613..5699
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DE3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5736..5852
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DE3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5907..5984
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DE3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    6078..6500
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DE3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      13677..13682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="hexamer: AATAAA"
     polyA_site      13704
                     /gene="USF3"
                     /gene_synonym="KIAA2018"
                     /note="major polyA site"
ORIGIN
        1 gggaaagttg aggccgcgct gccgccgggt ctccggcctt gagggctcgg gctcgcagcg
       61 gctgcggtgg ccgcaaaaag aggcggcggg ggcgggggga gaggagggcc tgggcccgcg
      121 ctcccccagc cccggaggag caggcggtgg ccgcggacgg agagattcgc ccagacggtc
      181 agacactcct gccttcccct cctgggatca tgacccaggc gggggtcgcc gccgtcgccg
      241 ccgccaccgc ggccgagacc gcgcagccgg cggtaagaag aaagcataac ccatagacca
      301 tcttctggca gaagatgata catttggatc agaaacggga ggcattggaa gccaggaatc
      361 aaaagtgaag aaactctgca agcccttagg ttcctattac tgtaaccatg ccagaaatga
      421 cagagaatga gacgcctaca aaaaagcagc acagaaagaa aaaccgggag acacacaatg
      481 cagtggagag gcatagaaag aagaaaatta atgctgggat aaacagaata ggagagctga
      541 tcccatgttc tcctgccctg aagcagagca agaatatgat cctggaccaa gcctttaaat
      601 atataacaga attgaaaagg caaaatgatg aactcctgct taatggagga aacaatgaac
      661 aagctgaaga aataaaaaag ctacggaaac aactggaaga aatccaaaaa gaaaatggcc
      721 gatatattga attactgaaa gctaatgaca tatgcttata tgatgacccg acaattcact
      781 ggaaaggaaa tcttaaaaac tcaaaggtct ctgttgttat tcctagtgac caggttcaaa
      841 aaaaaattat tgtttattcc aacgggaatc agcctggtgg aaacagccag ggaacagctg
      901 ttcaggggat aacttttaat gttagtcata atttacaaaa gcagaccgcc aatgtggtgc
      961 cagtacagag gacttgcaat cttgtgactc ctgtatctat ttctggagtt tacccttctg
     1021 aaaacaagcc atggcatcag accacagttc ctgcattggc taccaaccag cctgttcctc
     1081 tttgtcttcc tgctgccatt tctgctcaga gtattctcga gcttcccacc tctgaaagcg
     1141 aatcaaatgt gcttggtgcc actagtggct cactgattgc tgtttcaatt gaatctgagc
     1201 ctcaccaaca tcattctttg cacacatgcc taaatgatca aaattcttct gaaaataaga
     1261 atggacaaga gaaccccaaa gtattgaaga aaatgacccc ttgtgttaca aacatccccc
     1321 acagctcctc agcaactgcc actaaagtgc accatggaaa caagtcctgc ctgagcatac
     1381 aggacttcag aggtgatttt caaaacactt ttgttgtttc agttaccacc acagtctgct
     1441 cgcagcctcc cagaactgca ggtgattctt ctccaatgag cattagtaag agtgcagact
     1501 tgacaagtac agctacagtg gtggcatcat ctgcccctgg agtagggaag gccaccattc
     1561 ctataagcac tctttcggga aaccctttgg acaatggttg gactctttct tgttctttgc
     1621 cttcttcaag tgttagtact tcagatttga aaaacattaa tagccttaca cgaatctctt
     1681 cagctggaaa cacacagaca acgtggacta ctttgcaact ggcaggaaac actattcagc
     1741 ccttaagcca gacaccatct tctgctgtga ctccagtatt aaatgagtct ggtactagcc
     1801 ccaccacaag caaccacagt agatatgtgg ctacagacat caacttgaat aattcctttc
     1861 cagcagatgg gcagccagtt gagcaagtag ttgtaacatt gccttcttgt ccatctttac
     1921 ctatgcagcc actaattgcc cagccacaag ttaaatctca gcctcccaaa aatatccttc
     1981 cactgaattc agcaatgcaa gtgattcaga tggctcagcc agttgggtca gctgttaatt
     2041 cagctccaac taatcaaaat gttataattc ttcagccacc tagcaccacc ccatgcccaa
     2101 cagtgatgag ggcagaagtt tccaaccaaa cagtaggtca acagatagta atcatacagg
     2161 ctgctaatca gaatcctttg ccactcctcc ctgctccacc tcctggttct gttcgactcc
     2221 ccatcaatgg agccaatact gtaatagggt ctaataattc agtgcaaaat gttccaacac
     2281 cacagacttt tggaggaaag catcttgtcc acatattacc aagaccttca tctttatcag
     2341 cgtctaactc aacacaaact ttttctgtta ccatgtcaaa ccaacagcct caaaccattt
     2401 ctttaaatgg acagctcttt gctttgcagc ctgtgatgtc ttcatcagga actacaaatc
     2461 aaacccctat gcaaattatt caacccacca ccagcgaaga tccaaatacc aatgttgccc
     2521 tgaatacatt tggtgctttg gccagcctca atcaaagcat atcacagatg gctgggcaaa
     2581 gctgtgtaca attgtctatt agccagcctg ccaattctca aactgctgca aatagtcaaa
     2641 ccactacagc taactgtgtt tcattaacaa caactgcagc acctcctgtg acaacagata
     2701 gttcagccac actagctagt acttataatc tagtgagtac ttcctcaatg aacactgttg
     2761 cttgtttgcc taacatgaaa tctaaaaggt tgaataagaa gccaggtggc aggaaacact
     2821 tagcagcaaa caagtcagcg tgtcccctga attcagtcag agatgtgagc aagttagact
     2881 gccccaacac tgaaggctca gcagagccac cctgtaatga tggactgcta gaaagcttcc
     2941 ctgctgtgtt accatctgtc tctgtgtctc aggcaaatag tgtgagtgtt tctgcttcac
     3001 attctttggg tgttctaagc tctgaatcat taatacctga gtctgtatcg aaatctaagt
     3061 cagcagaaaa gtccagccca ccctcccaag aatctgtaac aagtgaacat tttgcaatgg
     3121 ccgcagcaaa atccaaagat tctaccccta atctacaaca agagacatct caggataaac
     3181 caccaagtag tttagcatta tcagatgctg ccaaaccctg cgcttcagcc aatgtattga
     3241 ttccatctcc aagtgatcct cacattttgg tttctcaggt tcctggtttg tcatctacaa
     3301 caagcactac aagtactgac tgtgtttctg aggtagaaat cattgctgaa ccttgcagag
     3361 ttgagcaaga ttcatcagat acaatgcaaa ccacaggtct cttaaagggg caaggtttaa
     3421 ctacattgct atctgatctt gctaaaaaaa aaaaccctca gaaatcatct ctttctgatc
     3481 agatggatca tcctgacttt tcttcagaaa atcctaaaat agttgattca agtgtgaatt
     3541 tacatcccaa acaggaacta ttactgatga acaatgatga tagagatcct ccacagcatc
     3601 attcctgcct ccctgatcaa gaggttatta atggttcttt gatcaacggt agacaggccg
     3661 actctcccat gtcaaccagc tctggcagta gtcgtagttt ctcagttgca tccatgcttc
     3721 ctgaaacaac aagagaagat gtgaccagca atgcaacaac taatacatgt gacagctgta
     3781 cctttgtaga gcaaactgat atagtagctc ttgcagcaag agctattttt gaccaggaga
     3841 accttgagaa ggggagagtt ggcctccagg ctgatataag ggaagttgct tcaaagcctt
     3901 ctgaagcatc attgttagag ggagacccac ccttcaaatc acagatacct aaagagagtg
     3961 gcacaggaca ggcagaagca acaccaaatg aatttaattc tcagggttca attgaagcaa
     4021 ctatggagag gccccttgag aaaccaagtt gttctctagg aattaaaaca tcaaatgcat
     4081 ctttacagga ttcaacttct cagccaccaa gcatcaccag tttaagtgtg aataatctta
     4141 tccatcagag cagcatcagc catcctctgg ccagctgtgc gggtttatcc ccaacttcag
     4201 agcaaacaac tgtgcctgca acggttaatc tgaccgtttc atctagctcc tatggcagtc
     4261 aacctcctgg accatctctg atgactgaat attcccaaga acagctaaat actatgacta
     4321 gtaccatacc aaattcacag attcaagagc cactcttaaa gccaagccat gaaagccgta
     4381 aggattctgc taagcgtgct gtccaagatg accttttact gtcttcagct aaacgtcaaa
     4441 agcactgtca gccagccccc ctcaggcttg aaagtatgtc cctgatgagc agaactccag
     4501 acaccatttc tgaccaaact caaatgatgg tcagtcagat ccctcctaat tcttcaaact
     4561 cagttgtgcc tgttagcaac ccagctcatg gagatggcct tacacgatta tttccaccta
     4621 gtaacaactt tgtgactcct gcattgaggc aaactgaagt tcagtgtggt tctcagcctt
     4681 cagttgctga acagcagcaa acccaggcaa gtcagcatct acaggccctg cagcagcatg
     4741 ttccagctca aggtgtatct caccttcata gtaaccatct ctacataaag cagcagcagc
     4801 agcagcagca gcagcagcag cagcaacagc aacaacaaca agcagggcag ttaagagaga
     4861 ggcatcactt atatcaaatg cagcatcatg tacctcatgc agagagctct gtccactctc
     4921 agccccataa tgtccaccaa cagaggactc tgcaacagga agttcagatg cagaaaaaga
     4981 ggaatcttgt tcagggcacc cagacctctc agctttcctt acaaccaaag caccatggaa
     5041 ctgaccaatc ccgatccaag actggccagc cacatcccca ccatcagcag atgcagcaac
     5101 aaatgcagca acactttgga agctcccaga cagagaagag ctgtgaaaac ccttcaacta
     5161 gtcggaacca tcataaccat ccccagaacc atctcaatca agatattatg caccaacagc
     5221 aggatgttgg aagcagacag caaggttcag gggtttcatc tgaacatgta tctggccata
     5281 atccaatgca gaggcttttg acatcaagag gcttagagca gcaaatggtg tcccaaccaa
     5341 gtattgtgac tagatcttca gacatgacct gtactccaca caggccagag agaaatagag
     5401 tttcaagtta ttctgctgag gcactcattg gaaagacatc ttctaattca gagcagagaa
     5461 tggggatatc aattcagggt tccagagttt cagatcagct tgaaatgaga agctatcttg
     5521 atgttcccag aaataagagt ttggctattc ataatatgca gggtcgtgtg gaccatactg
     5581 tggcctcaga tatccgcctt tctgattgtc agacgtttaa accaagtgga gctagtcaac
     5641 agccccagag taattttgaa gtacaatctt caagaaacaa tgaaataggt aaccctgtat
     5701 catcattgcg gagtatgcag tcccaggctt ttcgaattag tcaaaacact ggccccccac
     5761 caattgaccg tcaaaagaga ttatcttacc caccagttca gagcatccca acaggaaatg
     5821 gtattccatc aagggacagt gaaaatactt gtcaccaaag tttcatgcag agcttacttg
     5881 cccctcacct cagtgatcag gtcattggga gccagaggtc actctcagaa catcagagga
     5941 atacacagtg tggtccatcc tctgcaattg aatataattg tcccccaact catgaaaatg
     6001 tccatattag aagagagagt gagagtcaga atagggaaag ttgtgacatg tcgttaggtg
     6061 caattaacac caggaacagc accttgaata ttcctttttc aagttcctct tcctcaggag
     6121 atattcaagg tcgaaacaca agccccaatg tttctgtaca gaaatccaat cccatgagga
     6181 ttactgagag tcatgccacc aagggccaca tgaaccctcc agtcacaacc aacatgcatg
     6241 gggttgcaag gccagcgttg ccacatccat ctgtgtctca tggaaatggc gatcaaggcc
     6301 ctgctgtacg tcaagctaat tcttcagttc cccagagatc aaggcatccc ctgcaagaca
     6361 gcagtggttc caaaattcgt cagcctgaaa ggaatcgttc tggaaaccaa aggcaaagta
     6421 ctgtctttga tccaagtctt ccccatcttc ctctctctac tggtggcagt atgattcttg
     6481 gacgtcaaca acctgccaca gagaagagag gaagtattgt tcgtttcatg cctgatagcc
     6541 cacaagtacc taatgataat tcaggtcctg accagcatac actatcacaa aattttggtt
     6601 tttcttttat tcctgagggt ggcatgaatc caccaataaa tgctaatgct tctttcattc
     6661 cacaggttac tcagcctagt gccactcgaa ctccagccct catcccggta gatccgcaaa
     6721 atactctgcc ctccttctat cctccatact ctcctgctca tcctacactg tccaatgata
     6781 tttcaatccc ctattttcct aatcagatgt tctcaaatcc tagcacagag aaggtaaaca
     6841 gtggaagttt aaataaccga tttggatcaa ttttatctcc tcccagacct gttgggtttg
     6901 ctcaaccaag ttttcctctt ctcccagata tgccaccaat gcacatgacc aactctcact
     6961 tatccaattt taatatgaca tctttgtttc cagaaatagc cacagcgctt cctgatggct
     7021 cagcaatgtc acctttgctt acaatagcaa attcctctgc ctctgactct tccaagcagt
     7081 cctcaaacag acctgcccat aacataagcc atattctagg tcatgattgc agttcagctg
     7141 tttaaatact gataaacaaa atgtaaaggt aatgagtgag attacaaatg tatttgtgcg
     7201 tgcatgtgca cagacatgta catgaagaga aggattgtgt gtgtgtgtct gtataatcag
     7261 ttttcagtta tcttctgaat gtagggaagc catgtcagat gcagatactg ggttgtcaga
     7321 aaacaagtta tctttcgttt tcaactgcat ggtgtacttt tttattttcc aagtagattt
     7381 acatttccaa gttgatattt cctaaatact aattagctgg aaattggggg agatcatctt
     7441 gtcatgtact gggtagtagg agggagccta gactttaaac ttgattgttg ataacttatg
     7501 gaatatgtag gtaagttgct actgaaaaat ataggcagct tgataaaaca cagtggctca
     7561 taatcaagtg ctggctaatg tcagcatcta gaacagcttc ttacctatga cagatgttga
     7621 actgatgttg agtttaatgt ccgtagttaa agtcaagcag ttagcaaata aataaaagca
     7681 atcagccttt attctcaaag tttggtttag atacaggctt ctttctaaat tataacaatg
     7741 cataaattat ctgaatttta tgtcttgttc ttcaaattag ggagctgtgt taccctttaa
     7801 tgtgccaaga ttatttaaag caaaggtctt ccttagacaa ttatttagcc gtaaatatag
     7861 aaagctaaaa agttaagtac atacatattc tccgttttgt gcttgcattt tgcatcgggt
     7921 cataagggta aaagcagtta gttgtattgt ggagttttgc atgggtgcag ttaacaatgg
     7981 atgtttcatc agctgagttt aatttagtat tctctcttca ttctatttat ttggtcttga
     8041 aataaattct tttgcattca tttaaatatt aggattgatc aggaaatagt gtttgtaatc
     8101 tacacgttta tttgagcctt actttaaaaa tatttctgaa cagagattta agctctgtca
     8161 gtattttcat ttactgatag catttatatt ttaaatatgg cattgtatat ttcattatta
     8221 tccttcataa cagaattata atgagaatat gaatttgtta tttttcttgt tggtagatgt
     8281 gaaatggtgc ttcaaaaaat atatagtctt tctgtatgtc tctgtgtgtg taagtatgtg
     8341 tgtgtgtgtg tacacatatt ttaaagtatg aattggtcct ttaaaaacag gcctgccatc
     8401 tgaaaatggg aaattgagac ctgagacctg ctaaagcata gaagaacttg atataggtag
     8461 ggtttttttt tttttttttt ttttaataga tggagtctgg ctctgttgcc caggctggag
     8521 tgcagtggcg tgatctcagc tcactgcaag ctccacctcc cgggttcaag tgattctcct
     8581 gcctcagcct cctgtgtagc tgggactaca ggcacgtgcc accacacctg gctaattttt
     8641 ggtactttta gtagagacgg ggtttcaccg tgttagccag gatggtcttg atctcctgac
     8701 ctcgtgatcc acctgcctcg gcctcccaaa gtgccaggat tacaggcatg agccaccgtg
     8761 cttggcctag gtacaggttt ttaaaagccc cacagaagtt tataatacgt ttaaaaaccc
     8821 atattaaaat ttgaaaactt aaaaaaaaaa ctaagaaaac aatggcatat attccttttc
     8881 ttaaacctgt gaagtccatt actttttgtt cttgttatat tctgccaaaa atgggatggg
     8941 gtgggagaga tgcatagaaa ttgttttatc tgccttgtta acaaagtgaa ctcaaggacc
     9001 agcttttctt ttctttcttc ttttcttttt tttttgagac tctgtcaccc aggctggagt
     9061 gtcgttaggt gcaactaaca ccaggaacag caccttgaat attccttttt caagttcctc
     9121 ttcctcagga gatattcaag gtcactttgt cacccaggct ggagtctaca atggcaggat
     9181 cttggctcac tgcagcctct gcctcctggg ttcaagcaaa ttcttgagcc tcagcctccc
     9241 gagtagctga gattacaggt ctgtgccact acacctggct aatttttata tttttagtag
     9301 agacggggtt tcaccatctt ggccaggctg gtcttgaact cctgatgtca ggtgatccac
     9361 ccacctcggc ctcccaaagt actggaatta caggcatgag tcacccctcc caggcccccc
     9421 cctttttttt taatcctaaa aagcttccta agggttggtc agagcagtta actccagtga
     9481 atacctcttc taaagactca gcaaaagggt catttgtgcc tctttaactg ttcttaccaa
     9541 actgtcctgt ctcttttctg ctgccaacta agcagcttcc tagggacaaa aaaatataca
     9601 atattttttt ttttcttgct tacaaagcaa gaacaacctg tattttcttt cttcaaaatg
     9661 gtcttgggga agaataggag agcttcatga ataagttact caagacaaca gataaacaca
     9721 gtagtcaaaa ctttttattg aggaaaaatg tggcatttat gacttgcttt ttaattctct
     9781 taactgaatt ttaagctgca acgttcaaat ttttctttgt acttgaaagg tccagtgtgc
     9841 caatttcaag aaggacagtt ttccatgtgt ttggctattc atttccctct ctccctctct
     9901 catctgtctg tctctcactg cctctgtctc tgtctctcat acacatatac acacacacac
     9961 acacacacac acacacacac tctctctctc tctctctctc tctccagtgg ctgttaagtt
    10021 ctgaaggact ggggactgct agacataatt gaaagtaagg taacaggcta aggagaagct
    10081 cagtttgaac attgcaatgt aaagtcctca aagcctgtga ctttcaagta tttctgttgc
    10141 attaattgta ttttcctgct tagctgtgtt cagacatagt atttgcattt cttggagctt
    10201 tcattccaac agtctaacat tttgatcttg aaagagtctc aataagcctt atttgaccat
    10261 ctgaggaaaa atgtgaccat ctgtgaataa ttggctcctg cttacgtgta gctctcatta
    10321 ctttacagat gtatgcatgt gtatgtaaga cttcagttca tacatggctt aattctgaaa
    10381 gtgttcagac catagtaccc ttatttgatt taaaagcatg aatatatgag atttactagc
    10441 agtattaagt atttgataga gctacgtgat ttttgggaag aaatttgtta tatggtatgt
    10501 agtgttaatt tggatataat ttttggtaaa gggatggcag aaaacatagt caattttggt
    10561 tataataaac gtaaccttat tcttggcctg ctccatgtga aatagggctc agggaagctg
    10621 gtcttttcct tagcgggatg attactcctt tgccttgaaa catttattgg gcccaccatg
    10681 tatggatcag catgtggtgg taagtcatac tcccaaatca gtgattccca agtcttggct
    10741 ttgggaacca gtatgcctcg tattctctta aagagcaaca agaatttctt gaaacaaaat
    10801 tagttcagaa ttgatttaaa ttttttaact tctggaaata cacgaagtta tgtctgagtc
    10861 atgagtgaca gtcattgatt aaatcatttc tctgtctctt ttttagcatt attgatcaca
    10921 gagtccgtta taaaaagtgg ttgattcctt tcaacattta acaataactt ctaatgaagg
    10981 gtaaaattcc agattctctt catgcgtaaa catttaatgt gtcaatcata gatgaaagga
    11041 atctagtttg atgttgtttc tttctttctt ttttttggaa aacacaagtt gctctgggat
    11101 ggcttatatg ttgttttata ccggttcagg aaatttattt ttgtttttat tgtaagacct
    11161 tttgcggtac cagagatggc accttttttc taggtaaggt gtaggaattc ctcaatggtc
    11221 ttgcttcgta aaatttaaca tatcagaact ggggaaagag aaaggagggg gttatttttt
    11281 tgcagcattt tccagtcaca tatcagggtt atactgaact gcaacaaaga tcaactttta
    11341 aaaattagcc ttcttaaaat acaaaatgat ttaagtattt taaagataat ttatttgcct
    11401 tgctcttgcc ttctaacatt agccatttca tggagaggct aaaacttata ctccaaaaaa
    11461 tgtggaagca cattttaatg ggagtaaaat taaaaaattt tgagaaaggg taaaatctta
    11521 tgaatatgca tcttcttagc tttatcttcc ctttgatagg taggcactta tgctcttcca
    11581 tctgctccat gtcaaatagg gctcagggaa gccagtcatt tccttagcga gatgattact
    11641 cctttgcctt gaaacattta ttgggcccac catgtatgga tcagtgtgtg gtagtgagtc
    11701 atactcccaa atcagtgatt cccaagtctt ggctttggga accagtatgc cttgtattct
    11761 cttaaaaagc aacaataatt tcttgaaaca aaattagttc agaattgatt taaaatattt
    11821 cagtgtgcca tatagctctg tcccttggtt tggttggcct tgttttttcc tgtgaagaat
    11881 gaaagggcaa aggtgatacc aaaatgaaac agctttggag tgatatcttt aggagcctgg
    11941 aagccatttt tgtaattttg ttgtctatat aaatgctacc tttgcctgga ggtagtgcgc
    12001 ctgtggctgt gtacatccag agggcaacag taatagccaa caaccagaca aactagtgaa
    12061 gttaatctgt gagtgatgat tttatgatac ttatatgcaa attaaaggca gaagttagtt
    12121 tcttctcaag atgccttttt ggctgaacat taccattttt ctttccccag ggtttgaaag
    12181 aaaagggcct tttttggatt taactatatt ctgtctgcat tctattcttc atgcgtaggt
    12241 ttctactaga acctgtggag gggggacacc aaatttagat tgagtcagtc catgctgata
    12301 agaagcgtga ggaccttgtt ggacacagag cttctagatc tttccacctg tagcctctac
    12361 cctgttcctg cactttacct gaaactgtgc ctctggtctt tagaccagct gttggaacat
    12421 atcactcacc cactcctctg ttatagcaaa gggccagctg ggatggtaca cgctgtgtaa
    12481 tcagacacct tctcgacaag tacagctgat gtttctcact gttgccttac cattctctga
    12541 gccatctttg atgttgattt gtaaaaaaaa acaaaaaaca aaaaaaaaac ctagtagcaa
    12601 aactcctgtt aaactcagag cttgtatgtg gtggtcattc aacatcctta tttctagatt
    12661 tacacaaact gtaccaactg taatcttttt ctggcacgcg tatgtggtca gatgcttcat
    12721 aaacgtgagc caacttgggt tgtaaacatt ggacataata tacaaattgg ggaattttgg
    12781 atgactgcat aatcctgtca ttagagattt cataagacag aagataactg tttatttgta
    12841 atttaacaca tttttagaaa agatgatctt taatttcttt ccctcagttg tgtatacagc
    12901 tatacaccat actaacaccg tactatgtca taggaactta aagttagatg tatctaaatc
    12961 ccttcacttt tctaagactt ctctgtgctc ccacccctga agtcttcaaa tcatttttca
    13021 tctgtgaagt cactgaggta ctgggcttga ctatagtggt aacagttaag gggagttgaa
    13081 ctattgatct tccaagaaga aagggaccag atagtgttaa gatgctgcag ttgtgttact
    13141 gtgaagaaaa gattcgcttc cactttcagc aggctatata aatatatata catatatata
    13201 tatattttca ctttggtaaa aaaaagttga aaaatctgag gagaacataa ttaccttcac
    13261 aaattattta tagatacact gggtgagaag cttactgtag ggcagtcacc caaaaaaaac
    13321 taattttagt gctttcaata gtgtaatatt tgtatctatt accatggcag cagtgtctgc
    13381 tgcacactgt gtcctattac tgtaaatctc ctggtttata attcttatgg aaactaattt
    13441 gttttgtaat ggaatccaga gcagatatgt ataatatgat caggattgtc ctacagttgt
    13501 aaataagaat aggtcctgtt tattttgaca tctttttaca aatgcattgt attagggtgt
    13561 gaatattctg aaccatcctc ttgtttaaag tttggaaatt tttattgtta aatgtaacat
    13621 tttaatggtt gtaataatta tttgtataga tatgaatata gtattttatt taagaaaata
    13681 aactttgcat ttttgcattg taaa
//
LOCUS       NM_001009905            2985 bp    mRNA    linear   PRI 29-OCT-2022
DEFINITION  Homo sapiens UDP-GlcNAc:betaGal
            beta-1,3-N-acetylglucosaminyltransferase like 1 (B3GNTL1),
            transcript variant 1, mRNA.
ACCESSION   NM_001009905
VERSION     NM_001009905.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2985)
  AUTHORS   Zheng H, Li Y, Ji C, Li J, Zhang J, Yin G, Xu J, Ye X, Wu M, Zou X,
            Gu S, Xie Y and Mao Y.
  TITLE     Characterization of a cDNA encoding a protein with limited
            similarity to beta1, 3-N-acetylglucosaminyltransferase
  JOURNAL   Mol Biol Rep 31 (3), 171-175 (2004)
   PUBMED   15560372
  REMARK    GeneRIF: beta3-GnTL1 is similar to beta1,
            3-N-acetylglucosaminyltransferase
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY634364.1, AY304503.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000320865.4/ ENSP00000319979.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC130371.4.
            On Jan 13, 2021 this sequence version replaced NM_001009905.2.
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2985
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..2985
                     /gene="B3GNTL1"
                     /gene_synonym="3-Gn-T8; B3GNT8; beta-1; beta3Gn-T8;
                     beta3GnTL1; BGnT-8"
                     /note="UDP-GlcNAc:betaGal
                     beta-1,3-N-acetylglucosaminyltransferase like 1"
                     /db_xref="GeneID:146712"
                     /db_xref="HGNC:HGNC:21727"
                     /db_xref="MIM:615337"
     CDS             20..1060
                     /gene="B3GNTL1"
                     /gene_synonym="3-Gn-T8; B3GNT8; beta-1; beta3Gn-T8;
                     beta3GnTL1; BGnT-8"
                     /EC_number="2.4.1.-"
                     /note="isoform a is encoded by transcript variant 1;
                     UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase
                     8; UDP-GlcNAc:betaGal
                     beta-1,3-N-acetylglucosaminyltransferase-like protein 1;
                     BGnT-like protein 1; beta3Gn-T-like protein 1;
                     beta1,3-N-acetylglucosaminyltransferase-like protein 1;
                     beta-1,3-Gn-T8"
                     /codon_start=1
                     /product="UDP-GlcNAc:betaGal
                     beta-1,3-N-acetylglucosaminyltransferase-like protein 1
                     isoform a"
                     /protein_id="NP_001009905.2"
                     /db_xref="CCDS:CCDS32778.2"
                     /db_xref="GeneID:146712"
                     /db_xref="HGNC:HGNC:21727"
                     /db_xref="MIM:615337"
                     /translation="MQAHVSIILPVHNAEPWLDECLRSVLQQDFEGTMELSVFNDASKD
                     KSGAIIEKWRVKLEDSGVHVIIGGHDSPSPRGVGYAKNQAVAQSSGSYLCFLDSDDVMM
                     PQRVRLQHEAAVQHPSSIIGCRVRRDPPNSTERYTRWINQLTPEQLLTQVFTSNGPTVI
                     MPTWFCSRAWFSHVGPFNEGGQGVPEDLLFFYEHLRKGGGVIRVDQSLLLYRHHPQAAT
                     HCVLETTIWTHRVRFLEEQALPRWAAFTIWNAGKQGRRLYRSLTAGSQRKVVAFCDVDE
                     NKIRKGFYCHEDSQERPKPRIPILHFRAARPPFVICVKLDLTGGAFEDNLRSLHLQEGQ
                     DFLHFS"
     regulatory      1318..1323
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B3GNTL1"
                     /gene_synonym="3-Gn-T8; B3GNT8; beta-1; beta3Gn-T8;
                     beta3GnTL1; BGnT-8"
                     /note="hexamer: AATAAA"
     polyA_site      1343
                     /gene="B3GNTL1"
                     /gene_synonym="3-Gn-T8; B3GNT8; beta-1; beta3Gn-T8;
                     beta3GnTL1; BGnT-8"
                     /note="major polyA site"
     regulatory      2960..2965
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B3GNTL1"
                     /gene_synonym="3-Gn-T8; B3GNT8; beta-1; beta3Gn-T8;
                     beta3GnTL1; BGnT-8"
                     /note="hexamer: AATAAA"
     polyA_site      2978
                     /gene="B3GNTL1"
                     /gene_synonym="3-Gn-T8; B3GNT8; beta-1; beta3Gn-T8;
                     beta3GnTL1; BGnT-8"
ORIGIN
        1 gtccgaggag agccaggcca tgcaggccca cgtgtctatt atcctcccag tccacaacgc
       61 tgaaccgtgg ctggacgaat gtttgaggtc tgttttgcaa caggactttg aaggtaccat
      121 ggagctgtct gttttcaatg atgccagtaa ggacaagtct ggggctatca ttgaaaaatg
      181 gagagtgaag ctggaagatt ctggtgtcca cgtgatcatt ggggggcacg attctccctc
      241 tcctagaggc gtcggatacg ctaaaaatca agcagttgcc cagagctcag ggtcttacct
      301 ttgctttttg gattcggatg acgtcatgat gccccagcgg gtgaggctgc aacacgaggc
      361 tgccgttcag cacccgtcga gcatcattgg ttgcagagtg aggagagatc cccctaactc
      421 caccgaacga tacacacgtt ggatcaacca gctgacgccg gagcagctcc taacccaggt
      481 tttcacctca aatggcccca cggtgatcat gcccacctgg ttctgctcgc gagcgtggtt
      541 ctcccacgtg ggccccttta acgagggagg tcagggcgtc ccggaggacc tgctgttctt
      601 ctacgagcac ctcaggaagg gcggcggcgt catccgcgtg gaccagagtc tcctgctgta
      661 tcgccaccac ccacaggcgg ccacgcactg cgtcctcgag acgaccatct ggacccaccg
      721 cgtccgcttc ctggaagagc aggccctgcc ccgctgggcg gccttcacca tctggaacgc
      781 tggcaagcag gggcgccggc tgtaccgcag cttgactgcc ggcagccagc gcaaggtggt
      841 ggcattctgt gacgtggacg agaacaagat caggaaaggc ttctattgcc acgaggactc
      901 tcaggaaaga cccaagcccc gaatccccat cctgcacttc cgagccgccc ggccaccctt
      961 cgtcatctgc gtgaagctgg acctcacagg gggcgccttt gaggacaacc tgaggtcact
     1021 gcacttgcag gagggccagg acttccttca cttcagctga cggacccatg gcagctgctc
     1081 ccagtgcatc ccaggccagc aggagctttg tgagctgcag gcatggcgat ggtgcgcctg
     1141 ttccacaccc agcaggcgca accagagtct cgtgtgtgcc gaccacagga gccaagcctt
     1201 ttccactgtg tggactcatg tggccaaggc taggcctggt cacccaggac cctcaccacg
     1261 tgaccccagc caatcgggac agttcaagga ggaggagacc cctattacac aggttggaat
     1321 aaaatattta aatctcgtaa aaatgtaacc caaggctctt ttagggtata aagaccattg
     1381 gccaccaggt caaacacaac aacagtagtg tgttaacccc acactcctgt gtggccaggt
     1441 cgtcacacac atcccgtgaa gagctgtctg ctaaacacac agcacggact gtcacagtcc
     1501 tggtcttgtg gtcctggtga cctcacaagc ctcacagatg cggtggcacc tcccagttct
     1561 cggcctgccc atgttcctgt gtccaggccc catccccacc tgagagcagg ccagggagcc
     1621 accctaatct acaccacgca catggcaccc ctgggctcct cacataggga aagggttgct
     1681 cacccaagcc cttgggcctc tgagtggcca cacctggggc tgctttggtg ctgctggccg
     1741 tggttctgca cctcaagccc tatgagcaca gcacaggtcc cagagatggg tgtgggttgc
     1801 taccacagtg aaatttttat acacgttccc ctcaccagct ttgggatgga tcagcacgag
     1861 ctcagacaca gagacaaagg tagcctcctg ccctttgcct aaaaacccaa gtgtggactc
     1921 tgcccaggct ctcctaagac agtgtaatta tttcaagaat ggtatttatt tccgacatta
     1981 ctgtagaggc acacattgga ctctgacgat tccccttgca gcagacattt gtgaagctgc
     2041 tggtcggcac acccatcaat cagtgactcc tgcactgcag aggggccaca tgcacgatgc
     2101 tcacgtgtgc acagggggga ggacagcacc cccaccaggc agacgggccc agaaacagca
     2161 tctgcccagc actccagacc atgcctgcca ccagggcttc tcagttctct agcatttgaa
     2221 cctctgattt aacattcatc tctctccaag actgggtggg gcactgcctg tggccagacg
     2281 tctcccacag cagggacagc accaggcaag aagggggcct ggtctccagg caggaggagt
     2341 gcagcccacc tcccctctgg ctgacccctg ggcagtgagc ctttccatca cccctacaca
     2401 catcaggctc agagacaaaa ggcaggaact tcttggtaca tgattttata ggaagcacat
     2461 ttgtgttcaa gtgaaggcag aggcgtccac cccaagtcac cagagcgcag gtgcagagag
     2521 gaaaagctgt cagctagtgc cagcctccaa gggccagcgc tacccttcaa cagctggagg
     2581 caccactgtg cgaggctttc cacaccggcc tccctcagga acaagacatc ctcaccaggc
     2641 aggggtgagg tatgggctcc aggactggct tcagcaggca ccaggctgaa gaagagacaa
     2701 gacaagctca ggctggtcag ctccaacaca caccattccc agccagggga ccctcacccc
     2761 tctgggccct gtgtggggac tgacacggtt cctgcaggaa accatttgtg ccgtttccca
     2821 cacacccggc agcctgagct atgtggctga caggtgctca tgactaacgt gtcctcggaa
     2881 gggcacccca tctggggagc gggaagggag gttcactgca ctgctcttaa cctgcattca
     2941 cacgtttgaa atttttccta ataaaaatgt aaaaagcaca tttaa
//
LOCUS       NM_001009909            5212 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1,
            mRNA.
ACCESSION   NM_001009909
VERSION     NM_001009909.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5212)
  AUTHORS   Li Y, Deng G, Qi Y, Zhang H, Jiang H, Geng R, Ye Z, Liu B and Chen
            Q.
  TITLE     Downregulation of LUZP2 Is Correlated with Poor Prognosis of
            Low-Grade Glioma
  JOURNAL   Biomed Res Int 2020, 9716720 (2020)
   PUBMED   32695826
  REMARK    GeneRIF: Downregulation of LUZP2 Is Correlated with Poor Prognosis
            of Low-Grade Glioma. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5212)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   3  (bases 1 to 5212)
  AUTHORS   Cummings AC, Jiang L, Velez Edwards DR, McCauley JL, Laux R,
            McFarland LL, Fuzzell D, Knebusch C, Caywood L, Reinhart-Mercer L,
            Nations L, Gilbert JR, Konidari I, Tramontana M, Cuccaro ML, Scott
            WK, Pericak-Vance MA and Haines JL.
  TITLE     Genome-wide association and linkage study in the Amish detects a
            novel candidate late-onset Alzheimer disease gene
  JOURNAL   Ann Hum Genet 76 (5), 342-351 (2012)
   PUBMED   22881374
REFERENCE   4  (bases 1 to 5212)
  AUTHORS   Loo SK, Shtir C, Doyle AE, Mick E, McGough JJ, McCracken J,
            Biederman J, Smalley SL, Cantor RM, Faraone SV and Nelson SF.
  TITLE     Genome-wide association study of intelligence: additive effects of
            novel brain expressed genes
  JOURNAL   J Am Acad Child Adolesc Psychiatry 51 (4), 432-440 (2012)
   PUBMED   22449649
REFERENCE   5  (bases 1 to 5212)
  AUTHORS   Fox CS, Liu Y, White CC, Feitosa M, Smith AV, Heard-Costa N, Lohman
            K, Johnson AD, Foster MC, Greenawalt DM, Griffin P, Ding J, Newman
            AB, Tylavsky F, Miljkovic I, Kritchevsky SB, Launer L, Garcia M,
            Eiriksdottir G, Carr JJ, Gudnason V, Harris TB, Cupples LA and
            Borecki IB.
  CONSRTM   GIANT Consortium; MAGIC Consortium; GLGC Consortium
  TITLE     Genome-wide association for abdominal subcutaneous and visceral
            adipose reveals a novel locus for visceral fat in women
  JOURNAL   PLoS Genet 8 (5), e1002695 (2012)
   PUBMED   22589738
REFERENCE   6  (bases 1 to 5212)
  AUTHORS   Benyamin B, McRae AF, Zhu G, Gordon S, Henders AK, Palotie A,
            Peltonen L, Martin NG, Montgomery GW, Whitfield JB and Visscher PM.
  TITLE     Variants in TF and HFE explain approximately 40% of genetic
            variation in serum-transferrin levels
  JOURNAL   Am J Hum Genet 84 (1), 60-65 (2009)
   PUBMED   19084217
REFERENCE   7  (bases 1 to 5212)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   8  (bases 1 to 5212)
  AUTHORS   Wu M, Michaud EJ and Johnson DK.
  TITLE     Cloning, functional study and comparative mapping of Luzp2 to mouse
            chromosome 7 and human chromosome 11p13-11p14
  JOURNAL   Mamm Genome 14 (5), 323-334 (2003)
   PUBMED   12856284
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.216111.1, AL832641.3
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145544,
            SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000336930.11/ ENSP00000336817.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA706662.1, BC132829.1,
            AC087373.4, AK126974.1 and AL832641.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001009909.3.
            Summary: This gene encodes a leucine zipper protein. This protein
            is deleted in some patients with Wilms tumor-Aniridia-Genitourinary
            anomalies-mental Retardation (WAGR) syndrome. Alternate splicing
            results in multiple transcript variants. [provided by RefSeq, Oct
            2011].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5212
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p14.3"
     gene            1..5212
                     /gene="LUZP2"
                     /gene_synonym="KFSP2566; PRO6246"
                     /note="leucine zipper protein 2"
                     /db_xref="GeneID:338645"
                     /db_xref="HGNC:HGNC:23206"
                     /db_xref="MIM:608178"
     misc_feature    6..8
                     /gene="LUZP2"
                     /gene_synonym="KFSP2566; PRO6246"
                     /note="upstream in-frame stop codon"
     CDS             192..1232
                     /gene="LUZP2"
                     /gene_synonym="KFSP2566; PRO6246"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1"
                     /codon_start=1
                     /product="leucine zipper protein 2 isoform 1 precursor"
                     /protein_id="NP_001009909.2"
                     /db_xref="CCDS:CCDS31446.1"
                     /db_xref="GeneID:338645"
                     /db_xref="HGNC:HGNC:23206"
                     /db_xref="MIM:608178"
                     /translation="MKFSPAHYLLPLLPALVLSTRQDYEELEKQLKEVFKERSTILRQL
                     TKTSRELDGIKVNLQSLKNDEQSAKTDVQKLLELGQKQREEMKSLQEALQNQLKETSEK
                     AEKHQATINFLKTEVERKSKMIRDLQNENKSLKNKLLSGNKLCGIHAEESKKIQAQLKE
                     LRYGKKDLLFKAQQLTDLEQKLAVAKNELEKAALDRESQMKAMKETVQLCLTSVFRDQP
                     PPPLSLITSNPTRMLLPPRNIASKLPDAAAKSKPQQSASGNNESSQVESTKEGNPSTTA
                     CDSQDEGRPCSMKHKESPPSNATAETEPIPQKLQMPPCSECEVKKAPEKPLTSFEGMAA
                     REEKIL"
     sig_peptide     192..248
                     /gene="LUZP2"
                     /gene_synonym="KFSP2566; PRO6246"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q86TE4.2)"
     mat_peptide     249..1229
                     /gene="LUZP2"
                     /gene_synonym="KFSP2566; PRO6246"
                     /product="Leucine zipper protein 2. /id=PRO_0000315274"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TE4.2)"
     misc_feature    588..590
                     /gene="LUZP2"
                     /gene_synonym="KFSP2566; PRO6246"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q86TE4.2); glycosylation site"
     misc_feature    681..767
                     /gene="LUZP2"
                     /gene_synonym="KFSP2566; PRO6246"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TE4.2);
                     Region: Leucine-zipper"
     misc_feature    852..911
                     /gene="LUZP2"
                     /gene_synonym="KFSP2566; PRO6246"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TE4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    933..1229
                     /gene="LUZP2"
                     /gene_synonym="KFSP2566; PRO6246"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TE4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    981..983
                     /gene="LUZP2"
                     /gene_synonym="KFSP2566; PRO6246"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q86TE4.2); glycosylation site"
     misc_feature    1095..1097
                     /gene="LUZP2"
                     /gene_synonym="KFSP2566; PRO6246"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q86TE4.2); glycosylation site"
     regulatory      5158..5163
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LUZP2"
                     /gene_synonym="KFSP2566; PRO6246"
                     /note="hexamer: AATAAA"
     polyA_site      5178
                     /gene="LUZP2"
                     /gene_synonym="KFSP2566; PRO6246"
                     /note="major polyA site"
     regulatory      5193..5198
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LUZP2"
                     /gene_synonym="KFSP2566; PRO6246"
                     /note="hexamer: AATAAA"
     polyA_site      5212
                     /gene="LUZP2"
                     /gene_synonym="KFSP2566; PRO6246"
                     /note="major polyA site"
ORIGIN
        1 actcctgaag atactcctcg ctcccagcgc ctgccttccc caggcgtccg ttcgtgtgcc
       61 cgtctccgcc tttccgcctc ggaagagcgc tcatcactgg ctggggacag agccgggcac
      121 caaggagcga caggatcccg aagagagaga gagaaggcag cgagggaagg aggaccccgg
      181 caggcagcag catgaaattc agcccagcgc actacctgct gcctctcctg cctgcgctgg
      241 tcctcagcac cagacaggac tatgaagagc tagaaaagca gctgaaagaa gtctttaagg
      301 agcgaagcac cattcttcgt cagctgacaa agacatcaag agaacttgat ggaattaaag
      361 tcaatcttca gtccttaaaa aacgatgagc agtctgccaa aactgatgtt cagaaacttc
      421 tggaattagg acagaaacaa agagaagaaa tgaagtctct tcaggaggcc ctgcaaaatc
      481 agcttaagga gacatcagag aaagcagaaa aacaccaggc tactattaat tttttaaaga
      541 ctgaagttga aagaaagagc aaaatgatcc gagacctcca gaatgagaat aaaagcttga
      601 aaaacaaact cttgtcagga aacaagctct gtggcattca cgcagaagag tcaaaaaaaa
      661 tccaagccca gctgaaggag cttcgttatg ggaagaagga tttattattt aaggcgcagc
      721 agcttactga tctggaacaa aaattagctg tagccaaaaa tgaactggag aaagcagctc
      781 ttgacaggga gtcacagatg aaagcaatga aagagactgt gcagctctgc ttgacatctg
      841 ttttccgtga tcagcctcct ccccctttga gtttaatcac atcaaatcca actcggatgt
      901 tactcccacc caggaatatt gcctctaagc ttccagatgc agcggccaaa agcaagcctc
      961 aacaaagtgc ttctggaaac aatgagagct ctcaagttga gtcaacaaag gaaggaaatc
     1021 caagtaccac tgcctgtgac tctcaagatg agggcagacc gtgttccatg aagcacaaag
     1081 aaagtccccc aagtaatgcc actgcagaaa ccgagcctat cccacagaaa ttgcaaatgc
     1141 ctccttgctc tgaatgtgag gtgaaaaaag ccccagaaaa accattgacc agctttgaag
     1201 ggatggcagc tagagaagaa aaaatactgt aaatactaag aaactgtgtt aaaaacgtcc
     1261 atttgctatt gtcttcatat tctttttaga ccacaagctt gatggaaata ctgtttctaa
     1321 agcatgcaac tttttcacaa ttttatgtaa ctttataaag tagcctacac attttcaaag
     1381 attccagacc aattatgatc cttaagcaat aacctcattg aattgaatac ccacagtcag
     1441 aaatattttg ttgtcaacag taaattgtcc catataaatt ggtctggttt aactcaaatg
     1501 ctatctaaca tgtaattctc ccggttcatt tggatatcta gtacttctat gatatagttg
     1561 tcaaaatcaa ctggaggata ataaaatatt gtgggttctc agcattctta gaatccaaat
     1621 tacaaccata tcagtaaggg tttggtccac atgagccaac tgaagtcatt ttcctcaagg
     1681 ttggaatttg tgccaaccta aatacgttgt ttctttgatg gtgtttattg ctattggtat
     1741 tattttgaac taataacaat tattttgtct aaataatgct aagacaattc tgttaagaat
     1801 tttgtcagct aacataattc attaagtatg tttggcatca tatggacaaa atatttggat
     1861 gaatgactaa atttctgaca caattaaata ttttggcatt ctatagacac atctcctatg
     1921 tatgtctact gtaattaatc caagttaata accaagtttt ctgaaatact tggcaggatt
     1981 tttggtatga agttgggtag tggaataggg aatgaagagt gagttctaaa atacaaatat
     2041 gaaagcaggt aatatatatc acaaaacagg ggtctgatga aagtacaata gccatgttga
     2101 ttcaataaac ccagatgcat attttttgaa aaccaatgtg ttattgaaac aaatcaatgg
     2161 cagtgttaat ccataagagt tctgattttc tataggaata tcactaatca aaaaaatgca
     2221 ctcatgaata attggaagat agctcacaag caagaggaat tgacccttga ataattatct
     2281 gattaatagg tttcataggg cattcaaagt tgcagactca gttaatgact acagttaagt
     2341 tgtctggact gaaaagtcat ttcttttgtt tagaaccttt ttgcaaccgt agaaagcata
     2401 ttaaaccatt ggttttgcag gatggatctg tcaaaccaca atatatacat ttggatcagt
     2461 gtatcctagg agacagttaa taaaaatgta ttaaaggaaa tctttaatca ataaatgaac
     2521 ttagattctg agatttaatg gcatacctct gatcaaaatg gcatatttaa agaaatttaa
     2581 agatttggag aattggaaaa tatcgttagc tgtaaaagta atattatgac atatttatgt
     2641 agcacttcta ttttcagaat agttcagtgt cattcattag cacaggcagg tcccaaccac
     2701 aatggttcaa cttaacggtt ttttcatgat tctgtgaaag cttcataatt tctacatgct
     2761 ttgaattttg aattttgtta ttttttggag ggctagtgat acatggtcca tgaaatattc
     2821 aacactttat tataaaatag ggtttgtgtt agacaatttg cccaactgta ggatgaggta
     2881 tatgttctga gcacgtttaa gcaggtttaa gttagggtgg gctatgattt tccatttagg
     2941 tatctgaaat gcatttcaga cttacaatgt tttcaacctt tgacttcttt atctgtatgt
     3001 aatcctattg ttaaatcaag gagcattcat atttttcata aaaccggcta cccaaggaaa
     3061 aaaataatta gctttatgga tgatccatag agctttcaga tgaagtgact aggataaaat
     3121 aaaagatgaa ggtctgaggt ttcttctgac tccttcatat ttctaaaaat aatcatacaa
     3181 actagaatac tgctagtctc ccaagtcctg ttccttgtaa ttctcccact gttctcagtg
     3241 gccctaacca tctctatagg ttcctgacag ggaagcagat catttagttt taatttatgt
     3301 tcagtctccc acctccaccc tggggcccaa cttcccttgc aggccttgtg ggtcctatag
     3361 aaagttattc accatgtaat ctagcacagc atgttttgaa gcatctttgg aatgaaaaaa
     3421 aagaagaatc aggctgttat ttcctgaaat tgttatgaga gataacatgt tgaaaggtaa
     3481 gaactcaggt tgatattaat catgttttta tcaatcttca ttttaaagtt gtttttgttc
     3541 tgtatattct aaattccttt tattaattcc tggcttgatc aagtgggctt tggatccata
     3601 tgattttttt tttttttttt ttttgagatg aaatctcgct cttgttgccc aggctggagt
     3661 gcaatggagc gatcttggct cactgcaact ctgcttccca ggttcaagtg attctccctg
     3721 cctccgcctc ccaagtagct gggattacag gtacctgcca ccatgcccgg ctaattttta
     3781 tatttttaat agagacgggg tttcaccatg ttggccaggc tggtctcgaa ctcctgacct
     3841 caggcgatcc acctgcctca gtctcctccc aaaatgctgg gattacaggt gtgagccacc
     3901 gtgcctggcc agtgtgtttt tttcctttaa atatatatgg cattatacat ccagcaaagt
     3961 ttactgtgtt atactcattg catcatttgt ttaaaaaaaa aaaagaaact tgtagcagga
     4021 gacatttaaa aatatattta ggagttcctt ttaataacta agttagagac tctctttcag
     4081 taagttctat gactgtacct taatgaatgc attttattta tctcaatttt tatttgcttc
     4141 aaaatagaat cggataagtt taaaatgttc ctcttacatt tgtgaatgtg tctatgagag
     4201 aggggccatt tctcacatat tttaattaac aactaaataa acagacgttg ttttaaagga
     4261 attaacactt aaatcccaac catcctcata tagaataaaa tatcaaccta aatctttact
     4321 atagatagta taattctatt atgtacctgt aatgataagc attgaaagat tatttacatt
     4381 ttgaaaaaca tggaattgat tcttattaag aaaaaagata ttttccaatg gagtaacttg
     4441 ttttaataga ggtacaacca gaaccaacaa ttgtatttct ctatagttat tttaaaatag
     4501 taatcaatgc tatgtatttg atgtatatgt ttctaaatta gaaatttctt ttggctttgt
     4561 gtttttttaa tgtgcgttaa atatgtaaac tgaacctgtt cctaaaatgc attaaacttg
     4621 aatgctgtgt ctatccaatg ccaaaatgct cagaagaaaa gtgaataatt cagtcattca
     4681 tctggatgta gttttctgtg taatctcaaa tatctgaata ttgaaaaaac taggttgcta
     4741 acttttttca ttccttatgc aaatgtttag catcatagtg ctgtttcaga tacagatctg
     4801 tttcatcaaa tatcctcaat tacaagtcta agacagttat atgtaaagaa aatgtattat
     4861 tttagatgaa caatgtggat aactgaacta aaacgatatt tgtgaacttt gctataatga
     4921 aatcttttat ttttatagct caggtattgt aattagcact aattgcagca gagactgaaa
     4981 taattattga caccgtagag taccatagag taggttgaac tggccagacc tagacaatga
     5041 agaaaacaca tactgtttac ttaggagaca ttttcttagt cgtgtgtata gtcctaaatt
     5101 tccccaaact atgtgttcat ttggattgtg ttatataata acagtcgaat gatgaagaat
     5161 aaaagatgct gaaagatggc ctatttttgt tcaataaaga ttgttacaag aa
//
LOCUS       NM_001009921            5014 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens VPS8 subunit of CORVET complex (VPS8), transcript
            variant 1, mRNA.
ACCESSION   NM_001009921
VERSION     NM_001009921.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5014)
  AUTHORS   van der Beek J, Jonker C, van der Welle R, Liv N and Klumperman J.
  TITLE     CORVET, CHEVI and HOPS - multisubunit tethers of the endo-lysosomal
            system in health and disease
  JOURNAL   J Cell Sci 132 (10) (2019)
   PUBMED   31092635
  REMARK    Review article Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5014)
  AUTHORS   Jonker CTH, Galmes R, Veenendaal T, Ten Brink C, van der Welle REN,
            Liv N, de Rooij J, Peden AA, van der Sluijs P, Margadant C and
            Klumperman J.
  TITLE     Vps3 and Vps8 control integrin trafficking from early to recycling
            endosomes and regulate integrin-dependent functions
  JOURNAL   Nat Commun 9 (1), 792 (2018)
   PUBMED   29476049
  REMARK    GeneRIF: Vps3 and Vps8 are required for recycling of beta1
            integrins. Erratum:[Nat Commun. 2021 Sep 29;12(1):5828. PMID:
            34588435] Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5014)
  AUTHORS   Hunter MR, Scourfield EJ, Emmott E and Graham SC.
  TITLE     VPS18 recruits VPS41 to the human HOPS complex via a RING-RING
            interaction
  JOURNAL   Biochem J 474 (21), 3615-3626 (2017)
   PUBMED   28931724
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5014)
  AUTHORS   Perini ED, Schaefer R, Stoter M, Kalaidzidis Y and Zerial M.
  TITLE     Mammalian CORVET is required for fusion and conversion of distinct
            early endosome subpopulations
  JOURNAL   Traffic 15 (12), 1366-1389 (2014)
   PUBMED   25266290
REFERENCE   5  (bases 1 to 5014)
  AUTHORS   Cai DC, Fonteijn H, Guadalupe T, Zwiers M, Wittfeld K, Teumer A,
            Hoogman M, Arias-Vasquez A, Yang Y, Buitelaar J, Fernandez G,
            Brunner HG, van Bokhoven H, Franke B, Hegenscheid K, Homuth G,
            Fisher SE, Grabe HJ, Francks C and Hagoort P.
  TITLE     A genome-wide search for quantitative trait loci affecting the
            cortical surface area and thickness of Heschl's gyrus
  JOURNAL   Genes Brain Behav 13 (7), 675-685 (2014)
   PUBMED   25130324
REFERENCE   6  (bases 1 to 5014)
  AUTHORS   Antoni G, Oudot-Mellakh T, Dimitromanolakis A, Germain M, Cohen W,
            Wells P, Lathrop M, Gagnon F, Morange PE and Tregouet DA.
  TITLE     Combined analysis of three genome-wide association studies on vWF
            and FVIII plasma levels
  JOURNAL   BMC Med Genet 12, 102 (2011)
   PUBMED   21810271
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 5014)
  AUTHORS   Leparc GG and Mitra RD.
  TITLE     Non-EST-based prediction of novel alternatively spliced cassette
            exons with cell signaling function in Caenorhabditis elegans and
            human
  JOURNAL   Nucleic Acids Res 35 (10), 3192-3202 (2007)
   PUBMED   17452356
REFERENCE   8  (bases 1 to 5014)
  AUTHORS   Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A,
            Meil A, Wojcik J, Legrain P and Gauthier JM.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC140768.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2144335 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000625842.3/ ENSP00000487164.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA218768.1, DA340096.1, AK056661.1, AB018347.1, AC117436.6 and
            BI914013.1.
            On Feb 27, 2020 this sequence version replaced NM_001009921.2.
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). Variants 1, 3, 4, 5, and 6 all encode the same isoform (a).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5014
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.2"
     gene            1..5014
                     /gene="VPS8"
                     /gene_synonym="KIAA0804"
                     /note="VPS8 subunit of CORVET complex"
                     /db_xref="GeneID:23355"
                     /db_xref="HGNC:HGNC:29122"
                     /db_xref="MIM:618366"
     misc_feature    125..127
                     /gene="VPS8"
                     /gene_synonym="KIAA0804"
                     /note="upstream in-frame stop codon"
     CDS             149..4435
                     /gene="VPS8"
                     /gene_synonym="KIAA0804"
                     /note="isoform a is encoded by transcript variant 1;
                     vacuolar protein sorting-associated protein 8 homolog;
                     vacuolar protein sorting 8 homolog; VPS8, CORVET complex
                     subunit"
                     /codon_start=1
                     /product="vacuolar protein sorting-associated protein 8
                     homolog isoform a"
                     /protein_id="NP_001009921.1"
                     /db_xref="CCDS:CCDS46971.1"
                     /db_xref="GeneID:23355"
                     /db_xref="HGNC:HGNC:29122"
                     /db_xref="MIM:618366"
                     /translation="MENEPDHENVEQSLCAKTSEEELNKSFNLEASLSKFSYIDMDKEL
                     EFKNDLIDDKEFDIPQVDTPPTLESILNETDDEDESFILEDPTLLNIDTIDSHSYDTSS
                     VASSDSGDRTNLKRKKKLPDSFSLHGSVMRHSLLKGISAQIVSAADKVDAGLPTAIAVS
                     SLIAVGTSHGLALIFGKDQNQALRLCLGSTSVGGQYGAISALSINNDCSRLLCGFAKGQ
                     ITMWDLASGKLLRSITDAHPPGTAILHIKFTDDPTLAICNDSGGSVFELTFKRVMGVRT
                     CESRCLFSGSKGEVCCIEPLHSKPELKDHPITQFSLLAMASLTKILVIGLKPSLKVWMT
                     FPYGRMDPSSVPLLAWHFVAVQNYVNPMLAFCRGDVVHFLLVKRDESGAIHVTKQKHLH
                     LYYDLINFTWINSRTVVLLDSVEKLHVIDRQTQEELETVEISEVQLVYNSSHFKSLATG
                     GNVSQALALVGEKACYQSISSYGGQIFYLGTKSVYVMMLRSWRERVDHLLKQDCLTEAL
                     ALAWSFHEGKAKAVVGLSGDASKRKAIVADRMVEILFHYADRALKKCPDQGKIQVMEQH
                     FQDMVPVIVDYCLLLQRKDLLFSQMYDKLSENSVAKGVFLECLEPYILSDKLVGITPQV
                     MKDLIVHFQDKKLMENVEALIVHMDITSLDIQQVVLMCWENRLYDAMIYVYNRGMNEFI
                     SPMEKLFRVIAPPLNAGKTLTDEQVVMGNKLLVYISCCLAGRAYPLGDIPEDLVPLVKN
                     QVFEFLIRLHSAEASPEEEIYPYIRTLLHFDTREFLNVLALTFEDFKNDKQAVEYQQRI
                     VDILLKVMVENSDFTPSQVGCLFTFLARQLAKPDNTLFVNRTLFDQVLEFLCSPDDDSR
                     HSERQQVLLELLQAGGIVQFEESRLIRMAEKAEFYQICEFMYEREHQYDKIIDCYLRDP
                     LREEEVFNYIHNILSIPGHSAEEKQSVWQKAMDHIEELVSLKPCKAAELVATHFSGHIE
                     TVIKKLQNQVLLFKFLRSLLDPREGIHVNQELLQISPCITEQFIELLCQFNPTQVIETL
                     QVLECYRLEETIQITQKYQLHEVTAYLLEKKGDIHGAFLIMLERLQSKLQEVTHQGENT
                     KEDPSLKDVEDTMVETIALCQRNSHNLNQQQREALWFPLLEAMMAPQKLSSSAIPHLHS
                     EALKSLTMQVLNSMAAFIALPSILQRILQDPVYGKGKLGEIQGLILGMLDTFNYEQTLL
                     ETTTSLLNQDLHWSLCNLRASVTRGLNPKQDYCSICLQQYKRRQEMADEIIVFSCGHLY
                     HSFCLQNKECTVEFEGQTRWTCYKCSSSNKVGKLSENSSEIKKGRITPSQVKMSPSYHQ
                     SKGDPTAKKGTSEPVLDPQQIQAFDQLCRLYRGSSRLALLTELSQNRSSESYRPFSGSQ
                     SAPAFNSIFQNENFQLQLIPPPVTED"
     misc_feature    224..226
                     /gene="VPS8"
                     /gene_synonym="KIAA0804"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N3P4.3); phosphorylation site"
     misc_feature    242..244
                     /gene="VPS8"
                     /gene_synonym="KIAA0804"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N3P4.3); phosphorylation site"
     misc_feature    527..529
                     /gene="VPS8"
                     /gene_synonym="KIAA0804"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N3P4.3); phosphorylation site"
     misc_feature    731..856
                     /gene="VPS8"
                     /gene_synonym="KIAA0804"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N3P4.3);
                     Region: WD"
     misc_feature    4136..4216
                     /gene="VPS8"
                     /gene_synonym="KIAA0804"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N3P4.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4991..4996
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VPS8"
                     /gene_synonym="KIAA0804"
                     /note="hexamer: AATAAA"
     polyA_site      5014
                     /gene="VPS8"
                     /gene_synonym="KIAA0804"
                     /note="major polyA site"
ORIGIN
        1 agagcagtgg gtgcggtcac gtgggccggc ggtccacggc cggaatggca gcaagctcag
       61 agataatcat tcaggtcttc gtgagctaag gccaaacaaa caaaaaacac ttgctttgat
      121 ggactgaata ctgttattag aagtaaatat ggaaaatgaa ccagaccatg aaaatgtgga
      181 acagagcctc tgtgccaaga cgagcgaaga agagctgaat aagtctttca atctagaagc
      241 ttcactttca aaattctctt acatagatat ggacaaggaa ctggagttca aaaatgatct
      301 gattgatgac aaggagtttg atattcctca agttgatact cctccaacac tggaaagcat
      361 actaaatgag actgatgatg aagatgagtc ttttattctt gaggatccta cattgttaaa
      421 cattgatact attgattctc actcctatga tacttcatct gtggcaagct cagatagtgg
      481 tgacaggacc aacttaaaaa ggaagaagaa attacctgat tctttttcac ttcatggatc
      541 agttatgcgc cattcacttt tgaagggaat ttctgcccag atagtgtctg cagctgacaa
      601 agtagatgct ggcttgccta cagcaattgc agtatccagt ctgatagcag tgggtacatc
      661 tcatggattg gctttaatat ttggaaaaga tcagaatcaa gctttgcgac tctgtctggg
      721 tagcactagt gttggaggtc agtatggcgc tatctctgcc ctcagtatca acaatgattg
      781 ctcaagactt ctttgtggct ttgctaaagg acagatcacc atgtgggatt tggccagtgg
      841 aaaacttcta agatcaataa cagatgctca tcctccagga acagcaatat tgcatatcaa
      901 gtttacagat gatccaactc ttgcaatttg caacgacagc ggaggctctg tttttgaatt
      961 gacatttaag agagtgatgg gagtgagaac ctgtgaatct agatgtctgt tcagtggttc
     1021 caagggtgaa gtctgctgta ttgagcctct gcattctaag cctgagttga aagatcatcc
     1081 catcacacag ttttcattat tggccatggc atccttgaca aaaatactgg tcattggatt
     1141 gaaaccatcc ttgaaagtat ggatgacttt tccctatggc cggatggatc cttccagtgt
     1201 gccactgctg gcctggcact ttgtagcagt acaaaattac gtgaatccca tgcttgcctt
     1261 ctgcagagga gatgttgttc attttctatt ggtaaagaga gatgaatctg gagcaataca
     1321 tgttactaag caaaagcatc ttcacctata ctatgacctc atcaacttta cctggataaa
     1381 ttcacgcaca gttgtgctct tagacagcgt agagaagttg catgtgattg atcggcaaac
     1441 acaagaggaa ttggagacag tggagatctc agaagttcag ctggtctaca atagcagcca
     1501 tttcaaatca ctagccactg gaggaaatgt tagccaggca ctggctttgg ttggagagaa
     1561 ggcttgttat caatccatca gtagctatgg tggtcagatc ttttatttgg ggacaaaatc
     1621 tgtttatgtg atgatgctga ggagctggag agagagagtg gatcatctcc tgaaacaaga
     1681 ttgtcttaca gaagcgttgg ctcttgcgtg gtctttccat gaaggaaaag caaaagcagt
     1741 agtgggatta tcaggggatg ccagtaagcg aaaggctatt gttgcagacc ggatggtaga
     1801 aatcctattc cattatgcag atcgagctct gaaaaagtgc ccagaccaag gaaaaatcca
     1861 agtgatggag cagcattttc aggatatggt gcctgtcata gttgattact gccttctgct
     1921 gcagcgaaag gatcttttat ttagtcagat gtatgataaa ttaagtgaga attcagtggc
     1981 caaaggagta tttttggagt gccttgagcc atatatttta agtgataaat tggtgggaat
     2041 cacaccccaa gtaatgaaag acttgattgt tcatttccaa gataaaaaat taatggaaaa
     2101 tgtggaagcg ctcattgtac atatggatat caccagccta gatattcagc aggtagttct
     2161 catgtgttgg gaaaatcgtt tatatgatgc tatgatctat gtctacaaca gaggcatgaa
     2221 tgaatttatt agtccaatgg agaaactttt cagagtcatt gctcctcctc tgaatgcagg
     2281 aaaaacacta acagatgaac aagttgttat gggcaataag ctccttgtat atattagctg
     2341 ttgtctagca ggtcgtgcct atccccttgg tgacatccct gaagatctgg ttcccttggt
     2401 taaaaaccag gtttttgaat ttctaattcg cctgcattca gcagaggctt ctcctgagga
     2461 agaaatctat ccttacattc ggactttgct acattttgac acaagagaat ttctaaatgt
     2521 attggcactg acttttgaag attttaaaaa tgacaagcaa gctgtggaat atcaacagcg
     2581 aattgtggat attttgttga aagttatggt ggagaattca gactttaccc cctcacaagt
     2641 aggatgtctc tttaccttcc ttgctcggca gcttgcaaag cctgacaaca ccttgtttgt
     2701 aaacagaaca ctttttgatc aggtccttga attcctttgt agtcctgacg atgactcccg
     2761 acactctgaa agacagcagg tccttttaga attgctgcag gctggaggca tagttcaatt
     2821 tgaagagagt cgactcatcc ggatggcaga aaaagctgag ttctatcaaa tttgtgaatt
     2881 tatgtatgaa agagaacacc aatatgataa aattattgat tgctacttac gtgaccctct
     2941 gcgagaggaa gaagtcttta attacattca caatatctta tccattcccg gacacagtgc
     3001 agaggagaag cagtctgtat ggcagaaagc aatggatcat attgaggaac tcgtgtccct
     3061 gaagccttgt aaagctgcgg agctggttgc cacccacttt tctggacata ttgaaacggt
     3121 cattaaaaaa cttcagaacc aggttttgct tttcaaattt ttgaggagtc ttcttgaccc
     3181 aagggaaggt attcatgtaa atcaagaatt actgcaaata tctccttgta tcacagagca
     3241 gttcattgag ctgttgtgtc agttcaaccc aacccaagtt atagagactc tgcaagtcct
     3301 tgagtgctac cgtctggaag aaactattca gattactcag aagtatcaac ttcatgaagt
     3361 caccgcttat ctattggaaa agaaaggaga tattcatggt gccttcctaa taatgttaga
     3421 gagactacaa agcaaacttc aagaggtaac acatcaaggt gaaaatacca aagaggatcc
     3481 ctcattgaag gatgttgaag atactatggt ggagaccatt gctctttgcc agagaaattc
     3541 acataatttg aaccagcagc aacgtgaggc actttggttt ccgttattgg aggcaatgat
     3601 ggcccctcag aagctgtcca gttcagccat tcctcatcta cactctgaag ctctgaagtc
     3661 tttgaccatg caagttttaa atagcatggc agcatttatt gcccttccat caatcttgca
     3721 aagaatctta caggatccag tttatggaaa aggaaaactt ggagaaatcc agggacttat
     3781 cttgggaatg ttagatacct ttaactatga acaaaccctg ctggaaacaa caaccagcct
     3841 tctaaaccaa gatctccatt ggtcattgtg taacctgaga gcttcggtca ccagaggact
     3901 gaatcccaaa caagattact gctctatatg tttgcagcag tacaagagac gccaagaaat
     3961 ggctgatgaa ataattgtct ttagctgtgg ccatttgtat cactcattct gcctacaaaa
     4021 caaagaatgc actgtggaat ttgagggcca aacaagatgg acatgctaca aatgcagttc
     4081 aagtaacaaa gtaggaaaac tcagtgaaaa ttcatctgaa attaaaaagg gaaggataac
     4141 cccatcacag gtaaaaatgt ctccatcgta tcatcagtcc aaaggggatc ccactgctaa
     4201 aaagggaacc tcagaacctg ttctggatcc acagcaaatc caagcatttg atcagctttg
     4261 ccgtctctac cgaggaagct ccaggctggc tctcctcacg gaactctccc agaatcgcag
     4321 cagcgagagc tataggccat tcagtggctc gcagagtgct cctgctttca acagcatctt
     4381 ccagaatgag aacttccagc tgcagctcat tcctccacct gtgactgagg attgatgact
     4441 ccatggagcc tggcccagga gaaccagaga tgatcccgag gcagctgggg agaggccccg
     4501 cctctggtgg gcttggcctc caccacctcc cacgcttctg agaagaggtt ccaaattggg
     4561 cttctgtgcc cagagcgtcc acagcaccat tcccagtgta gactcccagt cttctccaca
     4621 ttgctgtcat ggcgtcagtt caccagactc attgattttg ttttgcttgt taagcaaagg
     4681 aatgtcacat acctctgtcc agctttttag gaaatacatt tcgcctattg cgactttttc
     4741 catttaccct gaagcctaga aagtaggtgg aactcacaca aatggcattc cagagtctgc
     4801 catactccgt ctcctccagc tgctggataa tacagaggaa cttcaacttc tacagggaac
     4861 agtggttggc caggctgcag tataactgaa gcatgccttg gagagagcag acactgtggg
     4921 ggccagggcc atctcccttt aatgtgttca tgttaaaacc tatttgagtg taagacttgc
     4981 cctttctaac aataaatgct ccgtgtttaa gttc
//
LOCUS       NM_001009925            1435 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens transmembrane protein 230 (TMEM230), transcript variant
            4, mRNA.
ACCESSION   NM_001009925
VERSION     NM_001009925.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1435)
  AUTHORS   Wang X, Guo G, Zhang J, Aebez N, Liu Z, Liu CF, Ross CA and Smith
            WW.
  TITLE     Mutant-TMEM230-induced neurodegeneration and impaired axonal
            mitochondrial transport
  JOURNAL   Hum Mol Genet 30 (16), 1535-1542 (2021)
   PUBMED   34002226
REFERENCE   2  (bases 1 to 1435)
  AUTHORS   Wang X, Whelan E, Liu Z, Liu CF and Smith WW.
  TITLE     Controversy of TMEM230 Associated with Parkinson's Disease
  JOURNAL   Neuroscience 453, 280-286 (2021)
   PUBMED   33212219
  REMARK    GeneRIF: Controversy of TMEM230 Associated with Parkinson's Disease.
            Review article
REFERENCE   3  (bases 1 to 1435)
  AUTHORS   Procopio R, Gagliardi M, Nicoletti G, Morelli M, Annesi G and
            Quattrone A.
  TITLE     Analysis of the TMEM230 gene in familial Parkinson's disease from
            south Italy
  JOURNAL   J Neurol Sci 404, 16-18 (2019)
   PUBMED   31323517
  REMARK    GeneRIF: Analysis of the TMEM230 gene in familial Parkinson's
            disease from south Italy.
REFERENCE   4  (bases 1 to 1435)
  AUTHORS   Procopio R, Gagliardi M, Brighina L, Nicoletti G, Morelli M, Piatti
            M, Annesi G and Quattrone A.
  TITLE     Analysis of the TMEM230 gene in patients with multiple system
            atrophy
  JOURNAL   J Neurol Sci 392, 128-129 (2018)
   PUBMED   30056200
  REMARK    GeneRIF: No pathogenic TMEM230 variants were detect in patient with
            multiple system atrophy.
REFERENCE   5  (bases 1 to 1435)
  AUTHORS   Tejera-Parrado C, Jesus S, Lopez-Ruiz A, Buiza-Rueda D,
            Bonilla-Toribio M, Bernal-Bernal I, Perinan MT, Vargas-Gonzalez L,
            Gomez-Garre P and Mir P.
  TITLE     TMEM230 in Parkinson's disease in a southern Spanish population
  JOURNAL   PLoS One 13 (5), e0197271 (2018)
   PUBMED   29771939
  REMARK    GeneRIF: Findings suggest that the incidence of pathogenic
            variations in TMEM230 is very low and, therefore, TMEM230 do not
            play a major role in familial and sporadic Parkinson's disease
            patients in southern Spanish population which can have important
            implication in clinical investigation. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 1435)
  AUTHORS   Deng HX, Shi Y, Yang Y, Ahmeti KB, Miller N, Huang C, Cheng L, Zhai
            H, Deng S, Nuytemans K, Corbett NJ, Kim MJ, Deng H, Tang B, Yang Z,
            Xu Y, Chan P, Huang B, Gao XP, Song Z, Liu Z, Fecto F, Siddique N,
            Foroud T, Jankovic J, Ghetti B, Nicholson DA, Krainc D, Melen O,
            Vance JM, Pericak-Vance MA, Ma YC, Rajput AH and Siddique T.
  TITLE     Identification of TMEM230 mutations in familial Parkinson's disease
  JOURNAL   Nat Genet 48 (7), 733-739 (2016)
   PUBMED   27270108
  REMARK    GeneRIF: TMEM230 mutation is associated with Parkinson's disease.
REFERENCE   7  (bases 1 to 1435)
  AUTHORS   Casabonne D, Reina O, Benavente Y, Becker N, Maynadie M, Foretova L,
            Cocco P, Gonzalez-Neira A, Nieters A, Boffetta P, Middeldorp JM and
            de Sanjose S.
  TITLE     Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9)
            and tumor protein 73 (TP73) interact with Epstein-Barr virus in
            chronic lymphocytic leukemia: results from the European case-control
            study EpiLymph
  JOURNAL   Haematologica 96 (2), 323-327 (2011)
   PUBMED   21048031
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   8  (bases 1 to 1435)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (bases 1 to 1435)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   10  (bases 1 to 1435)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN,
            Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden
            JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM,
            Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor
            S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh
            VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry
            D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R,
            Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay
            H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce
            CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore
            N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC,
            Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL,
            Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM,
            Bentley DR, Beck S and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC110408.1, CV816674.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC070212.1, BC009768.1 and
            BC011990.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 13, 2020 this sequence version replaced NM_001009925.1.
            Summary: This gene encodes a multi-pass transmembrane protein that
            belongs to the TMEM134/TMEM230 protein family. The encoded protein
            localizes to secretory and recycling vesicle in the neuron and may
            be involved in synaptic vesicles trafficking and recycling.
            Mutations in this gene may be linked to familial Parkinson's
            disease. [provided by RefSeq, Mar 2017].
            Transcript Variant: This variant (4) lacks an exon in the 5'
            region, and uses a downstream AUG codon for translation initiation,
            as compared to variant 1. The encoded isoform (2) has a shorter
            N-terminus, as compared to isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1435
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13-p12.3"
     gene            1..1435
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /note="transmembrane protein 230"
                     /db_xref="GeneID:29058"
                     /db_xref="HGNC:HGNC:15876"
                     /db_xref="MIM:617019"
     misc_feature    3..5
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /note="upstream in-frame stop codon"
     CDS             132..494
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /note="isoform 2 is encoded by transcript variant 4;
                     UPF0414 transmembrane protein C20orf30"
                     /codon_start=1
                     /product="transmembrane protein 230 isoform 2"
                     /protein_id="NP_001009925.1"
                     /db_xref="CCDS:CCDS13086.1"
                     /db_xref="GeneID:29058"
                     /db_xref="HGNC:HGNC:15876"
                     /db_xref="MIM:617019"
                     /translation="MMPSRTNLATGIPSSKVKYSRLSSTDDGYIDLQFKKTPPKIPYKA
                     IALATVLFLIGAFLIIIGSLLLSGYISKGGADRAVPVLIIGILVFLPGFYHLRIAYYAS
                     KGYRGYSYDDIPDFDD"
     misc_feature    174..176
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96A57.1); phosphorylation site"
     misc_feature    198..200
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q96A57.1); phosphorylation site"
     misc_feature    201..203
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96A57.1); phosphorylation site"
     misc_feature    267..329
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A57.1);
                     transmembrane region"
     misc_feature    366..428
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96A57.1);
                     transmembrane region"
     regulatory      1412..1417
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /note="hexamer: AATAAA"
     polyA_site      1435
                     /gene="TMEM230"
                     /gene_synonym="C20orf30; dJ1116H23.2.1; HSPC274"
                     /note="major polyA site"
ORIGIN
        1 actgatcccg cctggggccg gctgagtggc acttaagcgg gccatgccat gcaaccttgg
       61 gcgctgccaa ccgtgggcga gctctgggtg tgcgggcggc ctggcgcggc gctccgctgt
      121 gtcagcgtgt tatgatgccg tcccgtacca acctggctac tggaatcccc agtagtaaag
      181 tgaaatattc aaggctctcc agcacagacg atggctacat tgaccttcag tttaagaaaa
      241 cccctcctaa gatcccttat aaggccatcg cacttgccac tgtgctgttt ttgattggcg
      301 cctttctcat tattataggc tccctcctgc tgtcaggcta catcagcaaa gggggggcag
      361 accgggccgt tccagtgctg atcattggca ttctggtgtt cctacccgga ttttaccacc
      421 tgcgcatcgc ttactatgca tccaaaggct accgtggtta ctcctatgat gacattccag
      481 actttgatga ctagcaccca ccccatagct gaggaggagt cacagtggaa ctgtcccagc
      541 tttaagatat ctagcagaaa ctatagctga ggactaagga attctgcagc ttgcagatgt
      601 ttaagaaaat aatggccaga ttttttgggt ccttcccaaa gatgttaagt gaacctacag
      661 ttagctaatt aggacaagct ctatttttca tccctgggcc ctgacaagtt tttccacagg
      721 aatatgtatc atggaagaat agaggttatt ctgtaatgga aaagtgttgc ctgccaccac
      781 cctctgtaga gctgagcatt tcttttaaat agtcttcatt gccaatttgt tcttgtagca
      841 aatggaacaa tgtggtatgg ctaatttctt attattaagt aatttatttt aaaaatatct
      901 gagtatatta tcctgtacac ttatccctac cttcatgttc cagtggaaga ccttagtaaa
      961 atcaaagatc agtgagttca tctgtaatat tttttttact tgctttctta ctgacagcaa
     1021 ccaggaattt ttttatcctg cagagcaagt tttcaaaatg taaatacttc ctctgtttaa
     1081 cagtccttgg accattctga tccagttcac cagtaggttg gacagcatat aatttgcatc
     1141 attttgtccc ttgtaaatca agatgttctg cagattattc ctttaacggc cggacttttg
     1201 gctgtttcct aatgaaacat gtagtggtta ttatttagag tttatagccg tattgctagc
     1261 accttgtagt atgtcatcat tctgctcatg attccaagga tcagcctgga tgcctagagg
     1321 actagatcac cttagtttga ttctattttt tagcttgcaa aaagtgactt atattccaaa
     1381 gaaattaaaa tgttgaaatc caaatcctag aaataaaatg agttaacttc aaaca
//
LOCUS       NM_001009931            9629 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens hornerin (HRNR), mRNA.
ACCESSION   NM_001009931
VERSION     NM_001009931.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9629)
  AUTHORS   Xiang Q, Wang Z, Mu G, Xie Q, Liu Z, Zhou S, Zhang H, Wang Z, Hu K,
            Song H, Yuan D, Xia Q, Huang Y and Cui Y.
  TITLE     PROK2, HRNR, and FIG4 as potential genetic biomarkers of high
            bleeding propensity in East Asian patients with acute coronary
            syndrome using ticagrelor
  JOURNAL   Pharmacotherapy 42 (12), 872-879 (2022)
   PUBMED   36263704
  REMARK    GeneRIF: PROK2, HRNR, and FIG4 as potential genetic biomarkers of
            high bleeding propensity in East Asian patients with acute coronary
            syndrome using ticagrelor.
REFERENCE   2  (bases 1 to 9629)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (bases 1 to 9629)
  AUTHORS   Romero V, Nakaoka H, Hosomichi K and Inoue I.
  TITLE     High Order Formation and Evolution of Hornerin in Primates
  JOURNAL   Genome Biol Evol 10 (12), 3167-3175 (2018)
   PUBMED   30256937
  REMARK    GeneRIF: high order repeat formation conserved in apes Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 9629)
  AUTHORS   Fu SJ, Shen SL, Li SQ, Hua YP, Hu WJ, Guo B and Peng BG.
  TITLE     Hornerin promotes tumor progression and is associated with poor
            prognosis in hepatocellular carcinoma
  JOURNAL   BMC Cancer 18 (1), 815 (2018)
   PUBMED   30103712
  REMARK    GeneRIF: HRNR promotes tumor progression and is correlated with a
            poor hepatocellular carcinoma (HCC)prognosis. HRNR may contribute to
            HCC progression via the regulation of the AKT pathway. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 9629)
  AUTHORS   Gutknecht MF, Seaman ME, Ning B, Cornejo DA, Mugler E, Antkowiak PF,
            Moskaluk CA, Hu S, Epstein FH and Kelly KA.
  TITLE     Identification of the S100 fused-type protein hornerin as a
            regulator of tumor vascularity
  JOURNAL   Nat Commun 8 (1), 552 (2017)
   PUBMED   28916756
  REMARK    GeneRIF: These results indicate that hornerin is highly expressed in
            pancreatic tumor endothelium and alters tumor vessel parameters
            through a VEGF-independent mechanism. Angiogenesis is essential for
            solid tumor progression. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 9629)
  AUTHORS   Stamer WD, Hoffman EA, Luther JM, Hachey DL and Schey KL.
  TITLE     Protein profile of exosomes from trabecular meshwork cells
  JOURNAL   J Proteomics 74 (6), 796-804 (2011)
   PUBMED   21362503
REFERENCE   7  (bases 1 to 9629)
  AUTHORS   Henry J, Hsu CY, Haftek M, Nachat R, de Koning HD, Gardinal-Galera
            I, Hitomi K, Balica S, Jean-Decoster C, Schmitt AM, Paul C, Serre G
            and Simon M.
  TITLE     Hornerin is a component of the epidermal cornified cell envelopes
  JOURNAL   FASEB J 25 (5), 1567-1576 (2011)
   PUBMED   21282207
  REMARK    GeneRIF: The data demonstrate that HRNR is a component of cornified
            cell envelopes of human epidermis. Its reduced expression in AD may
            contribute to the epidermal barrier defect observed in the disease.
REFERENCE   8  (bases 1 to 9629)
  AUTHORS   Stemmler S, Nothnagel M, Parwez Q, Petrasch-Parwez E, Epplen JT and
            Hoffjan S.
  TITLE     Variation in genes of the epidermal differentiation complex in
            German atopic dermatitis patients
  JOURNAL   Int J Immunogenet 36 (4), 217-222 (2009)
   PUBMED   19601998
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 9629)
  AUTHORS   Wu Z, Meyer-Hoffert U, Reithmayer K, Paus R, Hansmann B, He Y,
            Bartels J, Glaser R, Harder J and Schroder JM.
  TITLE     Highly complex peptide aggregates of the S100 fused-type protein
            hornerin are present in human skin
  JOURNAL   J Invest Dermatol 129 (6), 1446-1458 (2009)
   PUBMED   19020553
  REMARK    GeneRIF: HRNR is expressed in healthy skin and contributes to its
            barrier function
REFERENCE   10  (bases 1 to 9629)
  AUTHORS   Takaishi M, Makino T, Morohashi M and Huh NH.
  TITLE     Identification of human hornerin and its expression in regenerating
            and psoriatic skin
  JOURNAL   J Biol Chem 280 (6), 4696-4703 (2005)
   PUBMED   15507446
  REMARK    GeneRIF: hornerin is expressed in regenerating and psoriatic skin
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY396741.1, BR000036.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368801.4/ ENSP00000357791.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL589986.15.
            On Nov 27, 2019 this sequence version replaced NM_001009931.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..9629
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..9629
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="hornerin"
                     /db_xref="GeneID:388697"
                     /db_xref="HGNC:HGNC:20846"
                     /db_xref="MIM:616293"
     misc_feature    44..46
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="upstream in-frame stop codon"
     CDS             77..8629
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="intermediate filament-associated protein; filaggrin
                     family member 3"
                     /codon_start=1
                     /product="hornerin"
                     /protein_id="NP_001009931.1"
                     /db_xref="CCDS:CCDS30859.1"
                     /db_xref="GeneID:388697"
                     /db_xref="HGNC:HGNC:20846"
                     /db_xref="MIM:616293"
                     /translation="MPKLLQGVITVIDVFYQYATQHGEYDTLNKAELKELLENEFHQIL
                     KNPNDPDTVDIILQSLDRDHNKKVDFTEYLLMIFKLVQARNKIIGKDYCQVSGSKLRDD
                     THQHQEEQEETEKEENKRQESSFSHSSWSAGENDSYSRNVRGSLKPGTESISRRLSFQR
                     DFSGQHNSYSGQSSSYGEQNSDSHQSSGRGQCGSGSGQSPNYGQHGSGSGQSSSNDTHG
                     SGSGQSSGFSQHKSSSGQSSGYSQHGSGSGHSSGYGQHGSRSGQSSRGERHRSSSGSSS
                     SYGQHGSGSRQSLGHGRQGSGSRQSPSHVRHGSGSGHSSSHGQHGSGSSYSYSRGHYES
                     GSGQTSGFGQHESGSGQSSGYSKHGSGSGHSSSQGQHGSTSGQASSSGQHGSSSRQSSS
                     YGQHESASRHSSGRGQHSSGSGQSPGHGQRGSGSGQSPSSGQHGTGFGRSSSSGPYVSG
                     SGYSSGFGHHESSSEHSSGYTQHGSGSGHSSGHGQHGSRSGQSSRGERQGSSAGSSSSY
                     GQHGSGSRQSLGHSRHGSGSGQSPSPSRGRHESGSRQSSSYGPHGYGSGRSSSRGPYES
                     GSGHSSGLGHQESRSGQSSGYGQHGSSSGHSSTHGQHGSTSGQSSSCGQHGATSGQSSS
                     HGQHGSGSSQSSRYGQQGSGSGQSPSRGRHGSDFGHSSSYGQHGSGSGWSSSNGPHGSV
                     SGQSSGFGHKSGSGQSSGYSQHGSGSSHSSGYRKHGSRSGQSSRSEQHGSSSGLSSSYG
                     QHGSGSHQSSGHGRQGSGSGHSPSRVRHGSSSGHSSSHGQHGSGTSCSSSCGHYESGSG
                     QASGFGQHESGSGQGYSQHGSASGHFSSQGRHGSTSGQSSSSGQHDSSSGQSSSYGQHE
                     SASHHASGRGRHGSGSGQSPGHGQRGSGSGQSPSYGRHGSGSGRSSSSGRHGSGSGQSS
                     GFGHKSSSGQSSGYTQHGSGSGHSSSYEQHGSRSGQSSRSEQHGSSSGSSSSYGQHGSG
                     SRQSLGHGQHGSGSGQSPSPSRGRHGSGSGQSSSYGPYRSGSGWSSSRGPYESGSGHSS
                     GLGHRESRSGQSSGYGQHGSSSGHSSTHGQHGSTSGQSSSCGQHGASSGQSSSHGQHGS
                     GSSQSSGYGRQGSGSGQSPGHGQRGSGSRQSPSYGRHGSGSGRSSSSGQHGSGLGESSG
                     FGHHESSSGQSSSYSQHGSGSGHSSGYGQHGSRSGQSSRGERHGSSSGSSSHYGQHGSG
                     SRQSSGHGRQGSGSGHSPSRGRHGSGLGHSSSHGQHGSGSGRSSSRGPYESRSGHSSVF
                     GQHESGSGHSSAYSQHGSGSGHFCSQGQHGSTSGQSSTFDQEGSSTGQSSSYGHRGSGS
                     SQSSGYGRHGAGSGQSPSRGRHGSGSGHSSSYGQHGSGSGWSSSSGRHGSGSGQSSGFG
                     HHESSSWQSSGCTQHGSGSGHSSSYEQHGSRSGQSSRGERHGSSSGSSSSYGQHGSGSR
                     QSLGHGQHGSGSGQSPSPSRGRHGSGSGQSSSYSPYGSGSGWSSSRGPYESGSSHSSGL
                     GHRESRSGQSSGYGQHGSSSGHSSTHGQHGSTSGQSSSCGQHGASSGQSSSHGQHGSGS
                     SQSSGYGRQGSGSGQSPGHGQRGSGSRQSPSYGRHGSGSGRSSSSGQHGSGLGESSGFG
                     HHESSSGQSSSYSQHGSGSGHSSGYGQHGSRSGQSSRGERHGSSSRSSSRYGQHGSGSR
                     QSSGHGRQGSGSGQSPSRGRHGSGLGHSSSHGQHGSGSGRSSSRGPYESRSGHSSVFGQ
                     HESGSGHSSAYSQHGSGSGHFCSQGQHGSTSGQSSTFDQEGSSTGQSSSHGQHGSGSSQ
                     SSSYGQQGSGSGQSPSRGRHGSGSGHSSSYGQHGSGSGWSSSSGRHGSGSGQSSGFGHH
                     ESSSWQSSGYTQHGSGSGHSSSYEQHGSRSGQSSRGEQHGSSSGSSSSYGQHGSGSRQS
                     LGHGQHGSGSGQSPSPSRGRHGSGSGQSSSYGPYGSGSGWSSSRGPYESGSGHSSGLGH
                     RESRSGQSSGYGQHGSSSGHSSTHGQHGSASGQSSSCGQHGASSGQSSSHGQHGSGSSQ
                     SSGYGRQGSGSGQSPGHGQRGSGSRQSPSYGRHGSGSGRSSSSGQHGPGLGESSGFGHH
                     ESSSGQSSSYSQHGSGSGHSSGYGQHGSRSGQSSRGERHGSSSGSSSRYGQHGSGSRQS
                     SGHGRQGSGSGHSPSRGRHGSGSGHSSSHGQHGSGSGRSSSRGPYESRSGHSSVFGQHE
                     SGSGHSSAYSQHGSGSGHFCSQGQHGSTSGQSSTFDQEGSSTGQSSSHGQHGSGSSQSS
                     SYGQQGSGSGQSPSRGRHGSGSGHSSSYGQHGSGSGWSSSSGRHGSGSGQSSGFGHHES
                     SSWQSSGYTQHGSGSGHSSSYEQHGSRSGQSSRGERHGSSSGSSSSYGQHGSGSRQSLG
                     HGQHGSGSGQSPSPSRGRHGSGSGQSSSYSPYGSGSGWSSSRGPYESGSGHSSGLGHRE
                     SRSGQSSGYGQHGSSSGHSSTHGQHGSTSGQSSSCGQHGASSGQSSSHGQHGSGSSQSS
                     GYGRQGSGSGQSPGHGQRGSGSRQSPSYGRHGSGSGRSSSSGQHGSGLGESSGFGHHES
                     SSGQSSSYSQHGSGSGHSSGYGQHGSRSGQSSRGERHGSSSGSSSHYGQHGSGSRQSSG
                     HGRQGSGSGQSPSRGRHGSGLGHSSSHGQHGSGSGRSSSRGPYESRLGHSSVFGQHESG
                     SGHSSAYSQHGSGSGHFCSQGQHGSTSGQSSTFDQEGSSTGQSSSYGHRGSGSSQSSGY
                     GRHGAGSGQSLSHGRHGSGSGQSSSYGQHGSGSGQSSGYSQHGSGSGQDGYSYCKGGSN
                     HDGGSSGSYFLSFPSSTSPYEYVQEQRCYFYQ"
     misc_feature    77..319
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86YZ3.2);
                     Region: S-100-like"
     misc_feature    365..637
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="1; propagated from UniProtKB/Swiss-Prot (Q86YZ3.2);
                     Region: Repetitive region"
     misc_feature    374..538
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86YZ3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    572..8527
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86YZ3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2051..2053
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    2057..2059
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    2744..2746
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    3053..3055
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    3098..3100
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    3689..3691
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8VHD8; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); methylation site"
     misc_feature    4463..4465
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    4508..4510
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    5210..5212
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    5216..5218
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    5561..5563
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    5567..5569
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    5873..5875
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    5918..5920
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    6971..6973
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    6977..6979
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    7283..7285
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    7328..7330
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    8030..8032
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
     misc_feature    8036..8038
                     /gene="HRNR"
                     /gene_synonym="FLG3; S100A16; S100a18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86YZ3.2); phosphorylation site"
ORIGIN
        1 accctgaaag ctgtttctgt ctctacccta cttgttcctc tggtgagcta ggttactcaa
       61 acttgcaaaa aaaaaaatgc ctaaactcct acaaggcgtc atcactgtca tcgatgtttt
      121 ctaccaatat gccacccagc atggggagta tgatacgttg aacaaggcag agctgaaaga
      181 acttctggaa aatgagtttc atcaaattct gaagaatcca aacgatccag atactgtgga
      241 tatcatcttg caaagtctgg atcgagacca taacaagaaa gtggatttta ctgagtatct
      301 tctgatgata ttcaagctgg ttcaggctcg taataaaatc attggcaaag attactgcca
      361 agtttcaggg tcaaagctga gagatgacac tcaccagcac caagaggaac aagaagaaac
      421 tgaaaaagag gagaacaaac ggcaagaatc ctcttttagt cattcaagtt ggagtgcagg
      481 agagaatgat tcctattcca gaaacgtcag aggaagtctt aaacctggga ctgaatccat
      541 atccagaaga ctgagttttc aaagagactt ttctggccaa cataactcct actcaggtca
      601 gtcttccagc tatggtgagc aaaactccga ctcccatcag tcttcaggcc gcggccaatg
      661 tgggtctggg tcagggcagt ctcccaacta tggccaacac ggctctggct ccggacagtc
      721 ttccagcaat gacacacatg ggtctggctc aggccagtct tctggcttta gtcaacacaa
      781 gtctagctca gggcagtcct ctggttacag tcagcatgga tctggctcag gtcactcctc
      841 tggctacgga caacacggct ctaggtcagg acagtcatct aggggtgaac gacacagatc
      901 tagctcaggt tcgtcttcca gctatggtca gcatgggtct ggttcccgtc agtctttggg
      961 ccacggccga caagggtctg gatctcgcca gtctcctagc cacgtccgac atgggtccgg
     1021 ttcggggcac tcctccagcc acggccaaca cgggtctggc tcaagttact cttacagccg
     1081 tggccattat gagtctggct caggccagac ttctggcttt gggcaacatg agtctggctc
     1141 aggacagtcc tctggctata gtaagcatgg ttctggctca ggtcactcct ctagccaggg
     1201 acaacatgga tctacgtcag ggcaggcatc aagctctggc caacatggct ccagctcacg
     1261 tcagtcttcc agctatggtc agcatgagtc tgcctcccgt cactcttcag gccgcggcca
     1321 acacagctct ggatctggcc agtctccagg ccacggccag cgtgggtctg ggtcagggca
     1381 gtctcccagc tccggccaac atgggactgg ctttggtcga tcttccagca gtggcccata
     1441 tgtgtctggt tcaggctact cttctggctt tggtcaccac gagtctagct cagagcattc
     1501 ctctggttac actcagcatg gatctggctc aggtcactcc tccggccacg gacaacacgg
     1561 ctctaggtca ggacagtcat ctaggggtga acgacaagga tctagtgcag gttcatcttc
     1621 cagctatggt cagcatgggt ctggctcccg tcaatctttg ggacacagcc gacatgggtc
     1681 tggatctggc cagtctccta gccctagccg tggccgacat gagtctggtt ccaggcagtc
     1741 ttccagctat ggcccacatg ggtatggctc agggaggtct tcaagccgtg gcccatatga
     1801 gtctggctcc ggtcactctt ctggcttagg tcaccaagag tctcgctcag gacagtcctc
     1861 tggctacggt caacacggat ctagctcggg tcattcctct acccatgggc aacatggttc
     1921 tacatcagga cagtcatcga gctgtggcca acatggagct acctcaggtc agtcttccag
     1981 ccacggtcag catggctctg gctcaagtca gtcttctcgc tatggccaac agggctctgg
     2041 atctggccag tctcctagtc gcggccgaca tgggtccgat tttgggcact cttccagcta
     2101 cggccaacat gggtctggct ccggttggtc ttcaagcaat ggcccacatg ggtctgtctc
     2161 aggccagtct tccggctttg gtcacaagtc tggctcaggg cagtcctctg gttacagtca
     2221 gcatggatct ggctcaagtc actcctccgg ctacagaaaa cacggctcta ggtcaggaca
     2281 gtcatctagg agtgaacaac acggatctag ctcaggtttg tcttccagct atggtcagca
     2341 tgggtcgggc tcccatcaat cttcgggcca cggccgacaa gggtctggat ctggccactc
     2401 tcctagccgt gtccgacatg ggtccagttc agggcactcc tccagccacg gccaacacgg
     2461 gtctggcaca agttgttctt ccagctgtgg ccattatgag tctggctcag gccaggcttc
     2521 tggttttggg caacacgagt ctggctcagg acagggctat agtcagcatg gttctgcctc
     2581 aggtcacttc tctagccagg gacgacatgg atctacgtca gggcagtcat caagctccgg
     2641 ccaacatgac tctagctcag gtcaatcttc cagctatggt cagcatgagt ctgcctccca
     2701 tcacgcttcg ggccgcggcc gacatggctc tggatctggc cagtctccag gccacggcca
     2761 gcgtgggtct gggtcagggc agtctcccag ctatggccga catgggtctg gctccggtcg
     2821 gtcttccagc agtggccgac atgggtctgg ctcaggccag tcttctggct ttggtcacaa
     2881 gtctagctca gggcagtcct ctggttacac tcagcatgga tctggctcag gtcactcctc
     2941 cagctacgaa caacacggct ctaggtcagg acagtcatct aggagcgaac aacatggatc
     3001 tagctcaggt tcgtcttcca gctatggtca gcatgggtct ggctcccgtc agtctttggg
     3061 ccacggccaa catgggtctg gatctggcca gtctcctagc cctagccgtg gccgacatgg
     3121 gtctggttcc gggcagtctt ccagctatgg cccatatagg tctggctcag ggtggtcttc
     3181 aagccgtggc ccatatgagt ctggctccgg tcactcttct ggcttaggtc accgagagtc
     3241 tcgctcagga cagtcctctg gctacggtca acatggatct agctcaggtc attcctctac
     3301 ccatgggcaa cacggttcta catcaggaca gtcatcgagc tgtggccaac atggagctag
     3361 ctcaggtcag tcttccagcc acggtcagca tggctctggc tcaagtcagt cttctggcta
     3421 tggccgacag ggctctggat ctggccagtc tccaggccac ggccagcgtg ggtctgggtc
     3481 aaggcagtct cccagctacg gccgacatgg gtctggctcc ggtcggtctt ccagcagtgg
     3541 ccaacatggg tctggcttag gcgagtcttc tggctttggt caccacgagt ctagctcagg
     3601 gcagtcctct agttacagtc agcatgggtc tggctcaggt cactcctctg gctacggaca
     3661 acacggctct agatcaggac agtcatctag gggtgaacga cacggatcta gctcaggttc
     3721 gtcttcccac tatggtcagc atgggtctgg ctcccgtcag tcttcgggcc acggccgaca
     3781 agggtctgga tctggccatt cccctagccg cggccgacat gggtccggtt tggggcactc
     3841 ctccagccac ggccaacatg ggtctggctc aggtcgttct tccagccgtg gcccatatga
     3901 gtctcgctcg ggtcactctt ctgtctttgg tcaacatgag tctggctcag gacattcctc
     3961 tgcttacagt cagcatggta gtggctcagg gcacttctgt agccaaggac agcatggttc
     4021 tacatcagga cagtcatcaa cctttgacca ggagggatct agcacaggcc agtcttccag
     4081 ctatggccac cgtggctctg gctccagtca gtcttctggc tatggccgac atggggctgg
     4141 atctggccag tctcctagtc gcggccgaca tgggtccggt tctgggcact cttccagcta
     4201 cggccaacat gggtctggct ccggttggtc ttccagcagt ggccgacatg ggtctggctc
     4261 aggtcagtct tctggatttg gtcaccacga gtctagctca tggcagtcct ctggttgcac
     4321 tcagcatgga tctggctcag gtcactcctc cagctacgaa caacacggct ctaggtcagg
     4381 acagtcatct aggggtgaac gacacggatc tagctcaggt tcatcttcca gctatggtca
     4441 gcatgggtct ggctcccgtc agtctttggg ccacggccaa catgggtctg gatctggcca
     4501 gtctcctagc cctagccgtg gccgacatgg gtctggttct gggcagtctt ccagctacag
     4561 cccatatggg tctggctcag ggtggtcttc cagccgtggc ccatatgagt ctggctccag
     4621 tcactcttct ggcttaggtc accgagagtc tcgctcagga cagtcctctg gctacggtca
     4681 acatggatct agctcaggtc attcctctac ccatgggcaa catggttcta catcaggaca
     4741 gtcatcgagc tgtggccaac atggagctag ctcaggtcag tcttccagcc acggtcagca
     4801 tggctctggc tcaagtcagt cttctggcta tggccgacag ggctctggat ctggccagtc
     4861 tccaggccac ggccagcgtg ggtctgggtc aaggcagtct cccagctacg gccgacatgg
     4921 gtctggctcc ggtcggtctt ccagcagtgg ccaacatggg tctggcttag gcgagtcttc
     4981 tggctttggt caccacgagt ctagctcagg gcagtcctct agttacagtc agcatgggtc
     5041 tggctcaggt cactcctctg gctacggaca acacggctct agatcaggac agtcatctag
     5101 gggtgaacga cacggatcta gctcacgttc gtcttcccgc tatggtcagc atgggtctgg
     5161 ctcccgtcag tcttcgggcc acggccgaca agggtctgga tctggccagt cccctagccg
     5221 cggccgacat gggtccggtt tggggcactc ctccagccac ggccaacatg ggtctggctc
     5281 aggtcgttct tccagccgtg gcccatatga gtctcgctcg ggtcactctt ctgtctttgg
     5341 tcaacatgag tctggctcag gacattcctc tgcttacagt cagcatggta gtggctcagg
     5401 gcacttctgt agccaaggac agcatggttc tacatcagga cagtcatcaa cctttgacca
     5461 ggagggatct agcacaggtc agtcttccag ccacggtcag catggctctg gctcaagtca
     5521 gtcttctagc tatggccaac agggctctgg atctggccag tctcctagtc gcggccgaca
     5581 tgggtccggt tccgggcact cttccagcta cggccaacat gggtctggct ccggttggtc
     5641 ttccagcagt ggccgacatg ggtctggctc aggtcagtct tctggatttg gtcaccatga
     5701 gtctagctca tggcagtcct ctggttacac tcagcatgga tctggctcag gtcactcctc
     5761 cagctacgaa caacacggct ctaggtcagg acagtcatct aggggtgaac aacacggatc
     5821 tagctcaggt tcatcttcca gctatggtca gcatgggtct ggctcccgtc agtctttggg
     5881 ccacggccaa catgggtctg gatctggcca gtctcctagc cctagccgtg gccgacatgg
     5941 gtctggttct gggcagtctt ccagctacgg cccatatggg tctggctcag ggtggtcttc
     6001 cagccgtggc ccatatgagt ctggctccgg tcactcttct ggcttaggtc accgagagtc
     6061 tcgctcagga cagtcctctg gctacggtca acatggatct agctcaggtc attcctctac
     6121 ccatgggcaa catggttctg catcaggaca gtcatcgagc tgtggccaac atggagctag
     6181 ctcaggtcag tcttccagcc acggtcagca tggctctggc tcaagtcagt cttctggcta
     6241 tggccgacag ggctctggat ctggccagtc tccaggccac ggccagcgtg ggtctgggtc
     6301 aaggcagtct cccagctatg gccgacatgg gtctggctcc ggtcggtctt ccagcagtgg
     6361 ccaacatggg cctggcttag gcgagtcttc tggctttggt caccacgagt ctagctcagg
     6421 gcagtcctct agttacagtc agcatgggtc tggctcaggt cactcctctg gctacggaca
     6481 acacggctct agatcaggac agtcatctag gggtgaacga cacggatcta gctcaggttc
     6541 gtcttcccgc tatggtcagc atgggtctgg ctcccgtcag tcttcgggcc acggccgaca
     6601 agggtctgga tctggccatt cccctagccg cggccgacat gggtccggtt cggggcactc
     6661 ctccagccac ggccaacatg ggtctggctc aggtcgttct tccagccgtg gcccatatga
     6721 gtctcgctcg ggtcactctt ctgtctttgg tcaacatgag tctggctcag gacattcctc
     6781 tgcttacagt cagcatggta gtggctcagg gcacttctgt agccaaggac agcatggttc
     6841 tacatcagga cagtcatcaa cctttgacca ggagggatct agcacaggtc agtcttccag
     6901 ccacggtcag catggctctg gctcaagtca gtcttctagc tatggccaac agggctctgg
     6961 atctggccag tctcctagtc gcggccgaca tgggtccggt tccgggcact cttccagcta
     7021 cggccaacat gggtctggct ccggttggtc ttccagcagt ggccgacatg ggtctggctc
     7081 aggtcagtct tctggatttg gtcaccacga gtctagctca tggcagtcct ctggttacac
     7141 tcagcatgga tctggctcag gtcactcctc cagctacgaa caacacggct ctaggtcagg
     7201 acagtcatct aggggtgaac gacacggatc tagctcaggt tcatcttcca gctatggtca
     7261 gcatgggtct ggctcccgtc agtctttggg ccacggccaa catgggtctg gatctggcca
     7321 gtctcctagc cctagccgtg gccgacatgg gtctggttct gggcagtctt ccagctacag
     7381 cccatatggg tctggctcag ggtggtcttc cagccgtggc ccatatgagt ctggctccgg
     7441 tcactcttct ggcttaggtc accgagagtc tcgctcagga cagtcctctg gctacggtca
     7501 acatggatct agctcaggtc attcctctac ccatgggcaa catggttcta catcaggaca
     7561 gtcatcgagc tgtggccaac atggagctag ctcaggtcag tcttccagcc acggtcagca
     7621 tggctctggc tcaagtcagt cttctggcta tggccgacag ggctctggat ctggccagtc
     7681 tccaggccac ggccagcgtg ggtctgggtc aaggcagtct cccagctacg gccgacatgg
     7741 gtctggctcc ggtcggtctt ccagcagtgg ccaacatggg tctggcttag gcgagtcttc
     7801 tggctttggt caccacgagt ctagctcagg gcagtcctct agttacagtc agcatgggtc
     7861 tggctcaggt cactcctctg gctacggaca acacggctct agatcaggac agtcatctag
     7921 gggtgaacga cacggatcta gctcaggttc gtcttcccac tatggtcagc atgggtctgg
     7981 ctcccgtcag tcttcgggcc acggccgaca agggtctgga tctggccagt cccctagccg
     8041 cggccgacat gggtccggtt tggggcactc ctccagccac ggccaacatg ggtctggctc
     8101 aggtcgttct tccagccgtg gcccatatga gtctcgcttg ggtcactctt ctgtctttgg
     8161 tcaacatgag tctggctcag gacattcctc tgcttacagt cagcatggta gtggctcagg
     8221 gcacttctgt agccaaggac agcatggttc tacatcagga cagtcatcaa cctttgacca
     8281 ggagggatct agcacaggcc agtcttccag ctatggccac cgtggctctg gctccagtca
     8341 gtcttctggc tatggccgac atggggctgg atctggccag tctcttagcc acggccgaca
     8401 cgggtctggt tcagggcagt cttccagcta cggccaacat gggtctggct caggacagtc
     8461 ctctggttat agtcagcatg gaagtggctc agggcaagat gggtattctt attgcaaagg
     8521 aggaagtaac catgatgggg gaagttctgg ctcatatttt ctcagttttc ctagtagcac
     8581 ttcaccctat gaatatgtcc aagagcagag gtgctacttt tatcagtgaa taataaacat
     8641 aaatgcaatt tactcaagta gcaatttaag aaataggaaa gtcatctatg aattcatcat
     8701 gaaagacaag caatccatca tgaaattcgt tctaaaagtg aatcaatgca tttctgtctc
     8761 tttctttaga gcctaaaact gtagcatata tcttgttatg gggttccttc caaagactgt
     8821 taggcatttg tgctactttg ttagaaaata ctgagtggaa taacttgtta gaatgagggt
     8881 taaactttga ggaataatga aaagctttta aagagctttg ggtttagttg gagttgtctt
     8941 tttgagagct catcattcat ttatagatgg tgccaaagct aaccttacat ttcttagaag
     9001 caaaatatta caaatgcatt accagtccta gatacaaagc tttgttttac agcaattagt
     9061 gtaccctaat ttttagtgtg ccccaagttt ggtgtgtccc aatttttggt attgtggcag
     9121 aaggtgaagg ctctgaaagc aaagatgcag cagcggtagt gtctttactt atcaaaacca
     9181 tcaagtcctt tttcttgggt atatatttaa tcagtaagtt aattagtggc ataaaaaagt
     9241 agcatcaggg tcttttccca agccagtgag caagagcatt atttcataaa gaatagggat
     9301 ttatcatttc aggaaaaaaa aaaacattca aatgtgggct ttagcttgtt ttcagcagaa
     9361 agatcttgct ccctatttct aagaggctgc tcaatattgg gaaatatatt gaggagttat
     9421 tccatggaaa tacaatgctt tccacctact actgtagttc aataacgttt ccacctgaaa
     9481 aaatatcatc catgcccaga tgaaaaggaa gagtatctgt cactgctaca tagttcctta
     9541 atttgactgt aacacatttg tttcaagtct ttggattcaa acaaccggat tgtattaaaa
     9601 ttgacaataa ataaatgttg attaaatac
//
LOCUS       NM_001009944           14140 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens polycystin 1, transient receptor potential channel
            interacting (PKD1), transcript variant 1, mRNA.
ACCESSION   NM_001009944
VERSION     NM_001009944.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 14140)
  AUTHORS   Lea WA, Winklhofer T, Zelenchuk L, Sharma M, Rossol-Allison J,
            Fields TA, Reif G, Calvet JP, Bakeberg JL, Wallace DP and Ward CJ.
  TITLE     Polycystin-1 Interacting Protein-1 (CU062) Interacts with the
            Ectodomain of Polycystin-1 (PC1)
  JOURNAL   Cells 12 (17), 2166 (2023)
   PUBMED   37681898
  REMARK    GeneRIF: Polycystin-1 Interacting Protein-1 (CU062) Interacts with
            the Ectodomain of Polycystin-1 (PC1). Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 14140)
  AUTHORS   Liu X, Shi X, Xin Q, Liu Z, Pan F, Qiao D, Chen M, Zhang Y, Guo W,
            Li C, Zhang Y, Shao L and Zhang R.
  TITLE     Identified eleven exon variants in PKD1 and PKD2 genes that altered
            RNA splicing by minigene assay
  JOURNAL   BMC Genomics 24 (1), 407 (2023)
   PUBMED   37468838
  REMARK    GeneRIF: Identified eleven exon variants in PKD1 and PKD2 genes that
            altered RNA splicing by minigene assay. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 14140)
  AUTHORS   Kimura T, Kawano H, Muto S, Muramoto N, Takano T, Lu Y, Eguchi H,
            Wada H, Okazaki Y, Ide H and Horie S.
  TITLE     PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic
            Kidney Disease
  JOURNAL   Biomolecules 13 (7), 1020 (2023)
   PUBMED   37509056
  REMARK    GeneRIF: PKD1 Mutation Is a Biomarker for Autosomal Dominant
            Polycystic Kidney Disease. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 14140)
  AUTHORS   Hosseinpour M, Ardalani F, Mohseni M, Beheshtian M, Arzhangi S,
            Ossareh S, Najmabadi H, Nobakht A, Kahrizi K and Broumand B.
  TITLE     Targeted Next Generation Sequencing Revealed Novel Variants in the
            PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant
            Polycystic Kidney Disease
  JOURNAL   Arch Iran Med 25 (9), 600-608 (2022)
   PUBMED   37543885
  REMARK    GeneRIF: Targeted Next Generation Sequencing Revealed Novel Variants
            in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal
            Dominant Polycystic Kidney Disease. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 14140)
  AUTHORS   Turco AE, Rossetti S, Bresin E, Corra S, Gammaro L, Maschio G and
            Pignatti PF.
  TITLE     A novel nonsense mutation in the PKD1 gene (C3817T) is associated
            with autosomal dominant polycystic kidney disease (ADPKD) in a large
            three-generation Italian family
  JOURNAL   Hum Mol Genet 4 (8), 1331-1335 (1995)
   PUBMED   7581371
REFERENCE   6  (bases 1 to 14140)
  AUTHORS   Burn TC, Connors TD, Dackowski WR, Petry LR, Van Raay TJ,
            Millholland JM, Venet M, Miller G, Hakim RM, Landes GM et al.
  TITLE     Analysis of the genomic sequence for the autosomal dominant
            polycystic kidney disease (PKD1) gene predicts the presence of a
            leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium)
  JOURNAL   Hum Mol Genet 4 (4), 575-582 (1995)
   PUBMED   7633406
REFERENCE   7  (bases 1 to 14140)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301743
REFERENCE   8  (bases 1 to 14140)
  AUTHORS   Harris,P.C. and Torres,V.E.
  TITLE     Polycystic Kidney Disease, Autosomal Dominant
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301424
REFERENCE   9  (bases 1 to 14140)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301299
REFERENCE   10  (bases 1 to 14140)
  AUTHORS   Watson ML, Wright AF, Macnicol AM, Allan PL, Clayton JF, Dempster M,
            Jeremiah SJ, Corney G and Hopkinson DA.
  TITLE     Studies of genetic linkage between adult polycystic kidney disease
            and three markers on chromosome 16
  JOURNAL   J Med Genet 24 (8), 457-461 (1987)
   PUBMED   2821260
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U24497.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000262304.9/ ENSP00000262304.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009065.8 and AC093513.3.
            On Jun 2, 2019 this sequence version replaced NM_001009944.2.
            Summary: This gene encodes a member of the polycystin protein
            family. The encoded glycoprotein contains a large N-terminal
            extracellular region, multiple transmembrane domains and a
            cytoplasmic C-tail. It is an integral membrane protein that
            functions as a regulator of calcium permeable cation channels and
            intracellular calcium homoeostasis. It is also involved in
            cell-cell/matrix interactions and may modulate G-protein-coupled
            signal-transduction pathways. It plays a role in renal tubular
            development, and mutations in this gene cause autosomal dominant
            polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized
            by the growth of fluid-filled cysts that replace normal renal
            tissue and result in end-stage renal failure. Splice variants
            encoding different isoforms have been noted for this gene. Also,
            six pseudogenes, closely linked in a known duplicated region on
            chromosome 16p, have been described. [provided by RefSeq, Oct
            2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..14140
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..14140
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="polycystin 1, transient receptor potential channel
                     interacting"
                     /db_xref="GeneID:5310"
                     /db_xref="HGNC:HGNC:9008"
                     /db_xref="MIM:601313"
     misc_feature    144..146
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="upstream in-frame stop codon"
     CDS             210..13121
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; transient receptor potential cation channel, subfamily
                     P, member 1; polycystin-1; polycystic kidney
                     disease-associated protein; autosomal dominant polycystic
                     kidney disease 1 protein; polycystic kidney disease 1
                     (autosomal dominant)"
                     /codon_start=1
                     /product="polycystin-1 isoform 1 precursor"
                     /protein_id="NP_001009944.3"
                     /db_xref="CCDS:CCDS32369.1"
                     /db_xref="GeneID:5310"
                     /db_xref="HGNC:HGNC:9008"
                     /db_xref="MIM:601313"
                     /translation="MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGA
                     ACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISNNKIS
                     TLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAG
                     QPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLA
                     ALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPH
                     GPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALG
                     AGSALLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPA
                     RAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVS
                     RVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWC
                     NTDLCSAPHSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVM
                     VFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQ
                     LAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGP
                     PAQYSVTLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSWLPH
                     LPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLS
                     CSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFE
                     NVCPALVATFVPGCPWETNDTLFSVVALPWLSEGEHVVDVVVENSASRANLSLRVTAEE
                     PICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSA
                     AVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSA
                     VEVAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLA
                     SNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDG
                     SPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQ
                     GAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLA
                     RSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCP
                     TVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVA
                     CAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVE
                     VQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNST
                     GDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVR
                     YSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVV
                     GGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQL
                     RATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEE
                     GLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGS
                     FVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSW
                     VSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPG
                     PRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNF
                     TARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENR
                     TLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRA
                     EHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYL
                     EAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHY
                     CFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLE
                     DGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAG
                     RKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRW
                     AARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIR
                     LSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQGHCE
                     EFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSAT
                     GLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQ
                     IRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQA
                     ETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSAL
                     MRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALAN
                     LSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVP
                     NNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSE
                     EPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNL
                     SSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGAS
                     LFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCG
                     QRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIAT
                     PHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVE
                     KEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICL
                     FLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRS
                     KVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKSL
                     VCWPSGEGTLSWPDLLSDPSIVGSNLRQLARGQAGHGLGPEEDGFSLASPYSPAKSFSA
                     SDEDLIQQVLAEGVSSPAPTQDTHMETDLLSSLSSTPGEKTETLALQRLGELGPPSPGL
                     NWEQPQAARLSRTGLVEGLRKRLLPAWCASLAHGLSLLLVAVAVAVSGWVGASFPPGVS
                     VAWLLSSSASFLASFLGWEPLKVLLEALYFSLVAKRLHPDEDDTLVESPAVTPVSARVP
                     RVRPPHGFALFLAKEEARKVKRLHGMLRSLLVYMLFLLVTLLASYGDASCHGHAYRLQS
                     AIKQELHSRAFLAITRSEELWPWMAHVLLPYVHGNQSSPELGPPRLRQVRLQEALYPDP
                     PGPRVHTCSAAGGFSTSDYDVGWESPHNGSGTWAYSAPDLLGAWSWGSCAVYDSGGYVQ
                     ELGLSLEESRDRLRFLQLHNWLDNRSRAVFLELTRYSPAVGLHAAVTLRLEFPAAGRAL
                     AALSVRPFALRRLSAGLSLPLLTSVCLLLFAVHFAVAEARTWHREGRWRVLRLGAWARW
                     LLVALTAATALVRLAQLGAADRQWTRFVRGRPRRFTSFDQVAQLSSAARGLAASLLFLL
                     LVKAAQQLRFVRQWSVFGKTLCRALPELLGVTLGLVVLGVAYAQLAILLVSSCVDSLWS
                     VAQALLVLCPGTGLSTLCPAESWHLSPLLCVGLWALRLWGALRLGAVILRWRYHALRGE
                     LYRPAWEPQDYEMVELFLRRLRLWMGLSKVKEFRHKVRFEGMEPLPSRSSRGSKVSPDV
                     PPPSAGSDASHPSTSSSQLDGLSVSLGRLGTRCEPEPSRLQAVFEALLTQFDRLNQATE
                     DVYQLEQQLHSLQGRRSSRAPAGSSRGPSPGLRPALPSRLARASRGVDLATGPSRTPLR
                     AKNKVHPSST"
     sig_peptide     210..278
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     279..13118
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /product="polycystin-1 isoform 1"
     misc_feature    357..359
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    411..482
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P98161.3);
                     Region: LRR 1"
     misc_feature    474..476
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    483..548
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P98161.3);
                     Region: LRR 2"
     misc_feature    555..557
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    570..572
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    768..770
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    2055..2114
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P98161.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2070..2072
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    2103..2105
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    2445..2447
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    2637..2639
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    2730..2732
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    2769..2771
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    2877..2879
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    2970..2972
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    3219..3221
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    3237..3239
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    3309..3311
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    3423..3425
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    3546..3548
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    3741..3743
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    3789..3791
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    3927..3929
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    4014..4016
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    4215..4217
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    4251..4253
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    4353..4355
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    4557..4559
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    4572..4574
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    4629..4631
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    4761..4763
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    4830..4832
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    4869..4871
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    4896..4898
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    5148..5150
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    5190..5192
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    5406..5408
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    5580..5582
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    5709..5711
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    5808..5810
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    5847..5849
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    6180..6182
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    6357..6359
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    6429..6431
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    6582..6584
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    6951..6953
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    7266..7268
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    7392..7394
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    7443..7445
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    7908..7910
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    7941..7943
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    8142..8144
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    8361..8363
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    8469..8471
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    8730..8732
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    8841..8843
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    8982..8984
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    9075..9077
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    9189..9191
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    9351..9356
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="Cleavage, by autolysis.
                     /evidence=ECO:0000269|PubMed:12482949,
                     ECO:0000269|PubMed:17525154; propagated from
                     UniProtKB/Swiss-Prot (P98161.3); cleavage site"
     misc_feature    9432..9494
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P98161.3);
                     transmembrane region"
     misc_feature    10041..10103
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P98161.3);
                     transmembrane region"
     misc_feature    10179..10241
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P98161.3);
                     transmembrane region"
     misc_feature    10887..10949
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P98161.3);
                     transmembrane region"
     misc_feature    10956..11018
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P98161.3);
                     transmembrane region"
     misc_feature    11205..11267
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P98161.3);
                     transmembrane region"
     misc_feature    11421..11423
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    11577..11579
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    11742..11744
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P98161.3); glycosylation site"
     misc_feature    11913..11975
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P98161.3);
                     transmembrane region"
     misc_feature    12015..12077
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P98161.3);
                     transmembrane region"
     misc_feature    12162..12224
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P98161.3);
                     transmembrane region"
     misc_feature    12291..12353
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P98161.3);
                     transmembrane region"
     misc_feature    12480..12539
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P98161.3);
                     transmembrane region"
     misc_feature    12687..12797
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P98161.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    12705..12707
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="Phosphoserine, by PRKX, in vitro.
                     /evidence=ECO:0000269|PubMed:17980165; propagated from
                     UniProtKB/Swiss-Prot (P98161.3); phosphorylation site"
     misc_feature    12936..13118
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P98161.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      14117..14122
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="hexamer: AATAAA"
     polyA_site      14140
                     /gene="PKD1"
                     /gene_synonym="PBP; Pc-1; PC1; TRPP1"
                     /note="major polyA site"
ORIGIN
        1 gcactgcagc gccagcgtcc gagcgggcgg ccgagctccc ggagcggcct ggccccgagc
       61 cccgagcggg cgtcgctcag cagcaggtcg cggccgcagc cccatccagc cccgcgcccg
      121 ccatgccgtc cgcgggcccc gcctgagctg cggcctccgc gcgcgggcgg gcctggggac
      181 ggcggggcca tgcgcgcgct gccctaacga tgccgcccgc cgcgcccgcc cgcctggcgc
      241 tggccctggg cctgggcctg tggctcgggg cgctggcggg gggccccggg cgcggctgcg
      301 ggccctgcga gcccccctgc ctctgcggcc cagcgcccgg cgccgcctgc cgcgtcaact
      361 gctcgggccg cgggctgcgg acgctcggtc ccgcgctgcg catccccgcg gacgccacag
      421 cgctagacgt ctcccacaac ctgctccggg cgctggacgt tgggctcctg gcgaacctct
      481 cggcgctggc agagctggat ataagcaaca acaagatttc tacgttagaa gaaggaatat
      541 ttgctaattt atttaattta agtgaaataa acctgagtgg gaacccgttt gagtgtgact
      601 gtggcctggc gtggctgccg cgatgggcgg aggagcagca ggtgcgggtg gtgcagcccg
      661 aggcagccac gtgtgctggg cctggctccc tggctggcca gcctctgctt ggcatcccct
      721 tgctggacag tggctgtggt gaggagtatg tcgcctgcct ccctgacaac agctcaggca
      781 ccgtggcagc agtgtccttt tcagctgccc acgaaggcct gcttcagcca gaggcctgca
      841 gcgccttctg cttctccacc ggccagggcc tcgcagccct ctcggagcag ggctggtgcc
      901 tgtgtggggc ggcccagccc tccagtgcct cctttgcctg cctgtccctc tgctccggcc
      961 ccccgccacc tcctgccccc acctgtaggg gccccaccct cctccagcac gtcttccctg
     1021 cctccccagg ggccaccctg gtggggcccc acggacctct ggcctctggc cagctagcag
     1081 ccttccacat cgctgccccg ctccctgtca ctgccacacg ctgggacttc ggagacggct
     1141 ccgccgaggt ggatgccgct gggccggctg cctcgcatcg ctatgtgctg cctgggcgct
     1201 atcacgtgac ggccgtgctg gccctggggg ccggctcagc cctgctgggg acagacgtgc
     1261 aggtggaagc ggcacctgcc gccctggagc tcgtgtgccc gtcctcggtg cagagtgacg
     1321 agagcctcga cctcagcatc cagaaccgcg gtggttcagg cctggaggcc gcctacagca
     1381 tcgtggccct gggcgaggag ccggcccgag cggtgcaccc gctctgcccc tcggacacgg
     1441 agatcttccc tggcaacggg cactgctacc gcctggtggt ggagaaggcg gcctggctgc
     1501 aggcgcagga gcagtgtcag gcctgggccg gggccgccct ggcaatggtg gacagtcccg
     1561 ccgtgcagcg cttcctggtc tcccgggtca ccaggagcct agacgtgtgg atcggcttct
     1621 cgactgtgca gggggtggag gtgggcccag cgccgcaggg cgaggccttc agcctggaga
     1681 gctgccagaa ctggctgccc ggggagccac acccagccac agccgagcac tgcgtccggc
     1741 tcgggcccac cgggtggtgt aacaccgacc tgtgctcagc gccgcacagc tacgtctgcg
     1801 agctgcagcc cggaggccca gtgcaggatg ccgagaacct cctcgtggga gcgcccagtg
     1861 gggacctgca gggacccctg acgcctctgg cacagcagga cggcctctca gccccgcacg
     1921 agcccgtgga ggtcatggta ttcccgggcc tgcgtctgag ccgtgaagcc ttcctcacca
     1981 cggccgaatt tgggacccag gagctccggc ggcccgccca gctgcggctg caggtgtacc
     2041 ggctcctcag cacagcaggg accccggaga acggcagcga gcctgagagc aggtccccgg
     2101 acaacaggac ccagctggcc cccgcgtgca tgccaggggg acgctggtgc cctggagcca
     2161 acatctgctt gccgctggac gcctcctgcc acccccaggc ctgcgccaat ggctgcacgt
     2221 cagggccagg gctacccggg gccccctatg cgctatggag agagttcctc ttctccgttc
     2281 ccgcggggcc ccccgcgcag tactcggtca ccctccacgg ccaggatgtc ctcatgctcc
     2341 ctggtgacct cgttggcttg cagcacgacg ctggccctgg cgccctcctg cactgctcgc
     2401 cggctcccgg ccaccctggt ccccgggccc cgtacctctc cgccaacgcc tcgtcatggc
     2461 tgccccactt gccagcccag ctggagggca cttgggcctg ccctgcctgt gccctgcggc
     2521 tgcttgcagc cacggaacag ctcaccgtgc tgctgggctt gaggcccaac cctggactgc
     2581 ggctgcctgg gcgctatgag gtccgggcag aggtgggcaa tggcgtgtcc aggcacaacc
     2641 tctcctgcag ctttgacgtg gtctccccag tggctgggct gcgggtcatc taccctgccc
     2701 cccgcgacgg ccgcctctac gtgcccacca acggctcagc cttggtgctc caggtggact
     2761 ctggtgccaa cgccacggcc acggctcgct ggcctggggg cagtgtcagc gcccgctttg
     2821 agaatgtctg ccctgccctg gtggccacct tcgtgcccgg ctgcccctgg gagaccaacg
     2881 ataccctgtt ctcagtggta gcactgccgt ggctcagtga gggggagcac gtggtggacg
     2941 tggtggtgga aaacagcgcc agccgggcca acctcagcct gcgggtgacg gcggaggagc
     3001 ccatctgtgg cctccgcgcc acgcccagcc ccgaggcccg tgtactgcag ggagtcctag
     3061 tgaggtacag ccccgtggtg gaggccggct cggacatggt cttccggtgg accatcaacg
     3121 acaagcagtc cctgaccttc cagaacgtgg tcttcaatgt catttatcag agcgcggcgg
     3181 tcttcaagct ctcactgacg gcctccaacc acgtgagcaa cgtcaccgtg aactacaacg
     3241 taaccgtgga gcggatgaac aggatgcagg gtctgcaggt ctccacagtg ccggccgtgc
     3301 tgtcccccaa tgccacgcta gcactgacgg cgggcgtgct ggtggactcg gccgtggagg
     3361 tggccttcct gtggaccttt ggggatgggg agcaggccct ccaccagttc cagcctccgt
     3421 acaacgagtc cttcccggtt ccagacccct cggtggccca ggtgctggtg gagcacaatg
     3481 tcatgcacac ctacgctgcc ccaggtgagt acctcctgac cgtgctggca tctaatgcct
     3541 tcgagaacct gacgcagcag gtgcctgtga gcgtgcgcgc ctccctgccc tccgtggctg
     3601 tgggtgtgag tgacggcgtc ctggtggccg gccggcccgt caccttctac ccgcacccgc
     3661 tgccctcgcc tgggggtgtt ctttacacgt gggacttcgg ggacggctcc cctgtcctga
     3721 cccagagcca gccggctgcc aaccacacct atgcctcgag gggcacctac cacgtgcgcc
     3781 tggaggtcaa caacacggtg agcggtgcgg cggcccaggc ggatgtgcgc gtctttgagg
     3841 agctccgcgg actcagcgtg gacatgagcc tggccgtgga gcagggcgcc cccgtggtgg
     3901 tcagcgccgc ggtgcagacg ggcgacaaca tcacgtggac cttcgacatg ggggacggca
     3961 ccgtgctgtc gggcccggag gcaacagtgg agcatgtgta cctgcgggca cagaactgca
     4021 cagtgaccgt gggtgcggcc agccccgccg gccacctggc ccggagcctg cacgtgctgg
     4081 tcttcgtcct ggaggtgctg cgcgttgaac ccgccgcctg catccccacg cagcctgacg
     4141 cgcggctcac ggcctacgtc accgggaacc cggcccacta cctcttcgac tggaccttcg
     4201 gggatggctc ctccaacacg accgtgcggg ggtgcccgac ggtgacacac aacttcacgc
     4261 ggagcggcac gttccccctg gcgctggtgc tgtccagccg cgtgaacagg gcgcattact
     4321 tcaccagcat ctgcgtggag ccagaggtgg gcaacgtcac cctgcagcca gagaggcagt
     4381 ttgtgcagct cggggacgag gcctggctgg tggcatgtgc ctggcccccg ttcccctacc
     4441 gctacacctg ggactttggc accgaggaag ccgcccccac ccgtgccagg ggccctgagg
     4501 tgacgttcat ctaccgagac ccaggctcct atcttgtgac agtcaccgcg tccaacaaca
     4561 tctctgctgc caatgactca gccctggtgg aggtgcagga gcccgtgctg gtcaccagca
     4621 tcaaggtcaa tggctccctt gggctggagc tgcagcagcc gtacctgttc tctgctgtgg
     4681 gccgtgggcg ccccgccagc tacctgtggg atctggggga cggtgggtgg ctcgagggtc
     4741 cggaggtcac ccacgcttac aacagcacag gtgacttcac cgttagggtg gccggctgga
     4801 atgaggtgag ccgcagcgag gcctggctca atgtgacggt gaagcggcgc gtgcgggggc
     4861 tcgtcgtcaa tgcaagccgc acggtggtgc ccctgaatgg gagcgtgagc ttcagcacgt
     4921 cgctggaggc cggcagtgat gtgcgctatt cctgggtgct ctgtgaccgc tgcacgccca
     4981 tccctggggg tcctaccatc tcttacacct tccgctccgt gggcaccttc aatatcatcg
     5041 tcacggctga gaacgaggtg ggctccgccc aggacagcat cttcgtctat gtcctgcagc
     5101 tcatagaggg gctgcaggtg gtgggcggtg gccgctactt ccccaccaac cacacggtac
     5161 agctgcaggc cgtggttagg gatggcacca acgtctccta cagctggact gcctggaggg
     5221 acaggggccc ggccctggcc ggcagcggca aaggcttctc gctcaccgtg ctcgaggccg
     5281 gcacctacca tgtgcagctg cgggccacca acatgctggg cagcgcctgg gccgactgca
     5341 ccatggactt cgtggagcct gtggggtggc tgatggtggc cgcctccccg aacccagctg
     5401 ccgtcaacac aagcgtcacc ctcagtgccg agctggctgg tggcagtggt gtcgtataca
     5461 cttggtcctt ggaggagggg ctgagctggg agacctccga gccatttacc acccatagct
     5521 tccccacacc cggcctgcac ttggtcacca tgacggcagg gaacccgctg ggctcagcca
     5581 acgccaccgt ggaagtggat gtgcaggtgc ctgtgagtgg cctcagcatc agggccagcg
     5641 agcccggagg cagcttcgtg gcggccgggt cctctgtgcc cttttggggg cagctggcca
     5701 cgggcaccaa tgtgagctgg tgctgggctg tgcccggcgg cagcagcaag cgtggccctc
     5761 atgtcaccat ggtcttcccg gatgctggca ccttctccat ccggctcaat gcctccaacg
     5821 cagtcagctg ggtctcagcc acgtacaacc tcacggcgga ggagcccatc gtgggcctgg
     5881 tgctgtgggc cagcagcaag gtggtggcgc ccgggcagct ggtccatttt cagatcctgc
     5941 tggctgccgg ctcagctgtc accttccgcc tgcaggtcgg cggggccaac cccgaggtgc
     6001 tccccgggcc ccgtttctcc cacagcttcc cccgcgtcgg agaccacgtg gtgagcgtgc
     6061 ggggcaaaaa ccacgtgagc tgggcccagg cgcaggtgcg catcgtggtg ctggaggccg
     6121 tgagtgggct gcaggtgccc aactgctgcg agcctggcat cgccacgggc actgagagga
     6181 acttcacagc ccgcgtgcag cgcggctctc gggtcgccta cgcctggtac ttctcgctgc
     6241 agaaggtcca gggcgactcg ctggtcatcc tgtcgggccg cgacgtcacc tacacgcccg
     6301 tggccgcggg gctgttggag atccaggtgc gcgccttcaa cgccctgggc agtgagaacc
     6361 gcacgctggt gctggaggtt caggacgccg tccagtatgt ggccctgcag agcggcccct
     6421 gcttcaccaa ccgctcggcg cagtttgagg ccgccaccag ccccagcccc cggcgtgtgg
     6481 cctaccactg ggactttggg gatgggtcgc cagggcagga cacagatgag cccagggccg
     6541 agcactccta cctgaggcct ggggactacc gcgtgcaggt gaacgcctcc aacctggtga
     6601 gcttcttcgt ggcgcaggcc acggtgaccg tccaggtgct ggcctgccgg gagccggagg
     6661 tggacgtggt cctgcccctg caggtgctga tgcggcgatc acagcgcaac tacttggagg
     6721 cccacgttga cctgcgcgac tgcgtcacct accagactga gtaccgctgg gaggtgtatc
     6781 gcaccgccag ctgccagcgg ccggggcgcc cagcgcgtgt ggccctgccc ggcgtggacg
     6841 tgagccggcc tcggctggtg ctgccgcggc tggcgctgcc tgtggggcac tactgctttg
     6901 tgtttgtcgt gtcatttggg gacacgccac tgacacagag catccaggcc aatgtgacgg
     6961 tggcccccga gcgcctggtg cccatcattg agggtggctc ataccgcgtg tggtcagaca
     7021 cacgggacct ggtgctggat gggagcgagt cctacgaccc caacctggag gacggcgacc
     7081 agacgccgct cagtttccac tgggcctgtg tggcttcgac acagagggag gctggcgggt
     7141 gtgcgctgaa ctttgggccc cgcgggagca gcacggtcac cattccacgg gagcggctgg
     7201 cggctggcgt ggagtacacc ttcagcctga ccgtgtggaa ggccggccgc aaggaggagg
     7261 ccaccaacca gacggtgctg atccggagtg gccgggtgcc cattgtgtcc ttggagtgtg
     7321 tgtcctgcaa ggcacaggcc gtgtacgaag tgagccgcag ctcctacgtg tacttggagg
     7381 gccgctgcct caattgcagc agcggctcca agcgagggcg gtgggctgca cgtacgttca
     7441 gcaacaagac gctggtgctg gatgagacca ccacatccac gggcagtgca ggcatgcgac
     7501 tggtgctgcg gcggggcgtg ctgcgggacg gcgagggata caccttcacg ctcacggtgc
     7561 tgggccgctc tggcgaggag gagggctgcg cctccatccg cctgtccccc aaccgcccgc
     7621 cgctgggggg ctcttgccgc ctcttcccac tgggcgctgt gcacgccctc accaccaagg
     7681 tgcacttcga atgcacgggc tggcatgacg cggaggatgc tggcgccccg ctggtgtacg
     7741 ccctgctgct gcggcgctgt cgccagggcc actgcgagga gttctgtgtc tacaagggca
     7801 gcctctccag ctacggagcc gtgctgcccc cgggtttcag gccacacttc gaggtgggcc
     7861 tggccgtggt ggtgcaggac cagctgggag ccgctgtggt cgccctcaac aggtctttgg
     7921 ccatcaccct cccagagccc aacggcagcg caacggggct cacagtctgg ctgcacgggc
     7981 tcaccgctag tgtgctccca gggctgctgc ggcaggccga tccccagcac gtcatcgagt
     8041 actcgttggc cctggtcacc gtgctgaacg agtacgagcg ggccctggac gtggcggcag
     8101 agcccaagca cgagcggcag caccgagccc agatacgcaa gaacatcacg gagactctgg
     8161 tgtccctgag ggtccacact gtggatgaca tccagcagat cgctgctgcg ctggcccagt
     8221 gcatggggcc cagcagggag ctcgtatgcc gctcgtgcct gaagcagacg ctgcacaagc
     8281 tggaggccat gatgctcatc ctgcaggcag agaccaccgc gggcaccgtg acgcccaccg
     8341 ccatcggaga cagcatcctc aacatcacag gagacctcat ccacctggcc agctcggacg
     8401 tgcgggcacc acagccctca gagctgggag ccgagtcacc atctcggatg gtggcgtccc
     8461 aggcctacaa cctgacctct gccctcatgc gcatcctcat gcgctcccgc gtgctcaacg
     8521 aggagcccct gacgctggcg ggcgaggaga tcgtggccca gggcaagcgc tcggacccgc
     8581 ggagcctgct gtgctatggc ggcgccccag ggcctggctg ccacttctcc atccccgagg
     8641 ctttcagcgg ggccctggcc aacctcagtg acgtggtgca gctcatcttt ctggtggact
     8701 ccaatccctt tccctttggc tatatcagca actacaccgt ctccaccaag gtggcctcga
     8761 tggcattcca gacacaggcc ggcgcccaga tccccatcga gcggctggcc tcagagcgcg
     8821 ccatcaccgt gaaggtgccc aacaactcgg actgggctgc ccggggccac cgcagctccg
     8881 ccaactccgc caactccgtt gtggtccagc cccaggcctc cgtcggtgct gtggtcaccc
     8941 tggacagcag caaccctgcg gccgggctgc atctgcagct caactatacg ctgctggacg
     9001 gccactacct gtctgaggaa cctgagccct acctggcagt ctacctacac tcggagcccc
     9061 ggcccaatga gcacaactgc tcggctagca ggaggatccg cccagagtca ctccagggtg
     9121 ctgaccaccg gccctacacc ttcttcattt ccccggggag cagagaccca gcggggagtt
     9181 accatctgaa cctctccagc cacttccgct ggtcggcgct gcaggtgtcc gtgggcctgt
     9241 acacgtccct gtgccagtac ttcagcgagg aggacatggt gtggcggaca gaggggctgc
     9301 tgcccctgga ggagacctcg ccccgccagg ccgtctgcct cacccgccac ctcaccgcct
     9361 tcggcgccag cctcttcgtg cccccaagcc atgtccgctt tgtgtttcct gagccgacag
     9421 cggatgtaaa ctacatcgtc atgctgacat gtgctgtgtg cctggtgacc tacatggtca
     9481 tggccgccat cctgcacaag ctggaccagt tggatgccag ccggggccgc gccatccctt
     9541 tctgtgggca gcggggccgc ttcaagtacg agatcctcgt caagacaggc tggggccggg
     9601 gctcaggtac cacggcccac gtgggcatca tgctgtatgg ggtggacagc cggagcggcc
     9661 accggcacct ggacggcgac agagccttcc accgcaacag cctggacatc ttccggatcg
     9721 ccaccccgca cagcctgggt agcgtgtgga agatccgagt gtggcacgac aacaaagggc
     9781 tcagccctgc ctggttcctg cagcacgtca tcgtcaggga cctgcagacg gcacgcagcg
     9841 ccttcttcct ggtcaatgac tggctttcgg tggagacgga ggccaacggg ggcctggtgg
     9901 agaaggaggt gctggccgcg agcgacgcag cccttttgcg cttccggcgc ctgctggtgg
     9961 ctgagctgca gcgtggcttc tttgacaagc acatctggct ctccatatgg gaccggccgc
    10021 ctcgtagccg tttcactcgc atccagaggg ccacctgctg cgttctcctc atctgcctct
    10081 tcctgggcgc caacgccgtg tggtacgggg ctgttggcga ctctgcctac agcacggggc
    10141 atgtgtccag gctgagcccg ctgagcgtcg acacagtcgc tgttggcctg gtgtccagcg
    10201 tggttgtcta tcccgtctac ctggccatcc tttttctctt ccggatgtcc cggagcaagg
    10261 tggctgggag cccgagcccc acacctgccg ggcagcaggt gctggacatc gacagctgcc
    10321 tggactcgtc cgtgctggac agctccttcc tcacgttctc aggcctccac gctgagcagg
    10381 cctttgttgg acagatgaag agtgacttgt ttctggatga ttctaagagt ctggtgtgct
    10441 ggccctccgg cgagggaacg ctcagttggc cggacctgct cagtgacccg tccattgtgg
    10501 gtagcaatct gcggcagctg gcacggggcc aggcgggcca tgggctgggc ccagaggagg
    10561 acggcttctc cctggccagc ccctactcgc ctgccaaatc cttctcagca tcagatgaag
    10621 acctgatcca gcaggtcctt gccgaggggg tcagcagccc agcccctacc caagacaccc
    10681 acatggaaac ggacctgctc agcagcctgt ccagcactcc tggggagaag acagagacgc
    10741 tggcgctgca gaggctgggg gagctggggc cacccagccc aggcctgaac tgggaacagc
    10801 cccaggcagc gaggctgtcc aggacaggac tggtggaggg tctgcggaag cgcctgctgc
    10861 cggcctggtg tgcctccctg gcccacgggc tcagcctgct cctggtggct gtggctgtgg
    10921 ctgtctcagg gtgggtgggt gcgagcttcc ccccgggcgt gagtgttgcg tggctcctgt
    10981 ccagcagcgc cagcttcctg gcctcattcc tcggctggga gccactgaag gtcttgctgg
    11041 aagccctgta cttctcactg gtggccaagc ggctgcaccc ggatgaagat gacaccctgg
    11101 tagagagccc ggctgtgacg cctgtgagcg cacgtgtgcc ccgcgtacgg ccaccccacg
    11161 gctttgcact cttcctggcc aaggaagaag cccgcaaggt caagaggcta catggcatgc
    11221 tgcggagcct cctggtgtac atgctttttc tgctggtgac cctgctggcc agctatgggg
    11281 atgcctcatg ccatgggcac gcctaccgtc tgcaaagcgc catcaagcag gagctgcaca
    11341 gccgggcctt cctggccatc acgcggtctg aggagctctg gccatggatg gcccacgtgc
    11401 tgctgcccta cgtccacggg aaccagtcca gcccagagct ggggccccca cggctgcggc
    11461 aggtgcggct gcaggaagca ctctacccag accctcccgg ccccagggtc cacacgtgct
    11521 cggccgcagg aggcttcagc accagcgatt acgacgttgg ctgggagagt cctcacaatg
    11581 gctcggggac gtgggcctat tcagcgccgg atctgctggg ggcatggtcc tggggctcct
    11641 gtgccgtgta tgacagcggg ggctacgtgc aggagctggg cctgagcctg gaggagagcc
    11701 gcgaccggct gcgcttcctg cagctgcaca actggctgga caacaggagc cgcgctgtgt
    11761 tcctggagct cacgcgctac agcccggccg tggggctgca cgccgccgtc acgctgcgcc
    11821 tcgagttccc ggcggccggc cgcgccctgg ccgccctcag cgtccgcccc tttgcgctgc
    11881 gccgcctcag cgcgggcctc tcgctgcctc tgctcacctc ggtgtgcctg ctgctgttcg
    11941 ccgtgcactt cgccgtggcc gaggcccgta cttggcacag ggaagggcgc tggcgcgtgc
    12001 tgcggctcgg agcctgggcg cggtggctgc tggtggcgct gacggcggcc acggcactgg
    12061 tacgcctcgc ccagctgggt gccgctgacc gccagtggac ccgtttcgtg cgcggccgcc
    12121 cgcgccgctt cactagcttc gaccaggtgg cgcagctgag ctccgcagcc cgtggcctgg
    12181 cggcctcgct gctcttcctg cttttggtca aggctgccca gcagctacgc ttcgtgcgcc
    12241 agtggtccgt ctttggcaag acattatgcc gagctctgcc agagctcctg ggggtcacct
    12301 tgggcctggt ggtgctcggg gtagcctacg cccagctggc catcctgctc gtgtcttcct
    12361 gtgtggactc cctctggagc gtggcccagg ccctgttggt gctgtgccct gggactgggc
    12421 tctctaccct gtgtcctgcc gagtcctggc acctgtcacc cctgctgtgt gtggggctct
    12481 gggcactgcg gctgtggggc gccctacggc tgggggctgt tattctccgc tggcgctacc
    12541 acgccttgcg tggagagctg taccggccgg cctgggagcc ccaggactac gagatggtgg
    12601 agttgttcct gcgcaggctg cgcctctgga tgggcctcag caaggtcaag gagttccgcc
    12661 acaaagtccg ctttgaaggg atggagccgc tgccctctcg ctcctccagg ggctccaagg
    12721 tatccccgga tgtgccccca cccagcgctg gctccgatgc ctcgcacccc tccacctcct
    12781 ccagccagct ggatgggctg agcgtgagcc tgggccggct ggggacaagg tgtgagcctg
    12841 agccctcccg cctccaagcc gtgttcgagg ccctgctcac ccagtttgac cgactcaacc
    12901 aggccacaga ggacgtctac cagctggagc agcagctgca cagcctgcaa ggccgcagga
    12961 gcagccgggc gcccgccgga tcttcccgtg gcccatcccc gggcctgcgg ccagcactgc
    13021 ccagccgcct tgcccgggcc agtcggggtg tggacctggc cactggcccc agcaggacac
    13081 cccttcgggc caagaacaag gtccacccca gcagcactta gtcctccttc ctggcggggg
    13141 tgggccgtgg agtcggagtg gacaccgctc agtattactt tctgccgctg tcaaggccga
    13201 gggccaggca gaatggctgc acgtaggttc cccagagagc aggcaggggc atctgtctgt
    13261 ctgtgggctt cagcacttta aagaggctgt gtggccaacc aggacccagg gtcccctccc
    13321 cagctccctt gggaaggaca cagcagtatt ggacggtttc tagcctctga gatgctaatt
    13381 tatttccccg agtcctcagg tacagcgggc tgtgcccggc cccaccccct gggcagatgt
    13441 cccccactgc taaggctgct ggcttcaggg agggttagcc tgcaccgccg ccaccctgcc
    13501 cctaagttat tacctctcca gttcctaccg tactccctgc accgtctcac tgtgtgtctc
    13561 gtgtcagtaa tttatatggt gttaaaatgt gtatattttt gtatgtcact attttcacta
    13621 gggctgaggg gcctgcgccc agagctggcc tcccccaaca cctgctgcgc ttggtaggtg
    13681 tggtggcgtt atggcagccc ggctgctgct tggatgcgag cttggccttg ggccggtgct
    13741 gggggcacag ctgtctgcca ggcactctca tcaccccaga ggccttgtca tcctcccttg
    13801 ccccaggcca ggtagcaaga gagcagcgcc caggcctgct ggcatcaggt ctgggcaagt
    13861 agcaggacta ggcatgtcag aggaccccag ggtggttaga ggaaaagact cctcctgggg
    13921 gctggctccc agggtggagg aaggtgactg tgtgtgtgtg tgtgtgcgcg cgcgcacgcg
    13981 cgagtgtgct gtatggccca ggcagcctca aggccctcgg agctggctgt gcctgcttct
    14041 gtgtaccact tctgtgggca tggccgcttc tagagcctcg acaccccccc aacccccgca
    14101 ccaagcagac aaagtcaata aaagagctgt ctgactgcaa
//
LOCUS       NM_001009984            6912 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens dynein axonemal assembly factor 9 (DNAAF9), mRNA.
ACCESSION   NM_001009984
VERSION     NM_001009984.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6912)
  AUTHORS   Mali GR, Ali FA, Lau CK, Begum F, Boulanger J, Howe JD, Chen ZA,
            Rappsilber J, Skehel M and Carter AP.
  TITLE     Shulin packages axonemal outer dynein arms for ciliary targeting
  JOURNAL   Science 371 (6532), 910-916 (2021)
   PUBMED   33632841
REFERENCE   2  (bases 1 to 6912)
  AUTHORS   Thompson AJ, Clark PJ, Singh A, Ge D, Fellay J, Zhu M, Zhu Q, Urban
            TJ, Patel K, Tillmann HL, Naggie S, Afdhal NH, Jacobson IM, Esteban
            R, Poordad F, Lawitz EJ, McCone J, Shiffman ML, Galler GW, King JW,
            Kwo PY, Shianna KV, Noviello S, Pedicone LD, Brass CA, Albrecht JK,
            Sulkowski MS, Goldstein DB, McHutchison JG and Muir AJ.
  TITLE     Genome-wide association study of interferon-related cytopenia in
            chronic hepatitis C patients
  JOURNAL   J Hepatol 56 (2), 313-319 (2012)
   PUBMED   21703177
REFERENCE   3  (bases 1 to 6912)
  AUTHORS   Wright KJ, Baye LM, Olivier-Mason A, Mukhopadhyay S, Sang L, Kwong
            M, Wang W, Pretorius PR, Sheffield VC, Sengupta P, Slusarski DC and
            Jackson PK.
  TITLE     An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the
            primary cilium
  JOURNAL   Genes Dev 25 (22), 2347-2360 (2011)
   PUBMED   22085962
REFERENCE   4  (bases 1 to 6912)
  AUTHORS   Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T,
            Liu W, Okuda H and Koizumi A.
  TITLE     Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes
            SCA36, a type of spinocerebellar ataxia accompanied by motor neuron
            involvement
  JOURNAL   Am J Hum Genet 89 (1), 121-130 (2011)
   PUBMED   21683323
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2153805.1,
            SRR18074969.886737.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000252032.10/ ENSP00000252032.9
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL117334.29, DB504338.1, CN285135.1, BC122529.1, AL109976.23 and
            AI214589.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 11, 2020 this sequence version replaced NM_001009984.2.
            Summary: This gene encodes an uncharacterized protein with a
            C-terminal coiled-coil region. The gene is located on chromosome
            20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia
            phenotype, but this gene does not appear to be a disease candidate.
            [provided by RefSeq, Dec 2011].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. There are no human full-length
            transcripts representing this exon combination; it is predicted
            based on aligning partial transcripts and on full-length transcript
            support from mouse GeneID:228602.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6912
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..6912
                     /gene="DNAAF9"
                     /gene_synonym="C20orf194"
                     /note="dynein axonemal assembly factor 9"
                     /db_xref="GeneID:25943"
                     /db_xref="HGNC:HGNC:17721"
                     /db_xref="MIM:614146"
     misc_feature    62..64
                     /gene="DNAAF9"
                     /gene_synonym="C20orf194"
                     /note="upstream in-frame stop codon"
     CDS             113..3646
                     /gene="DNAAF9"
                     /gene_synonym="C20orf194"
                     /note="uncharacterized protein C20orf194; shulin"
                     /codon_start=1
                     /product="dynein axonemal assembly factor 9"
                     /protein_id="NP_001009984.1"
                     /db_xref="CCDS:CCDS42851.1"
                     /db_xref="GeneID:25943"
                     /db_xref="HGNC:HGNC:17721"
                     /db_xref="MIM:614146"
                     /translation="MDVYPPRRQGLPRARSPGGSSRGSPSVSCSRLRQVQSILTQSSKS
                     RPDGILCILGIDSRYNEGCRELANYLLFGLYNQNTSDFEKTGFSEEVLDDVIILIKSDS
                     VHLYCNPVNFRYLLPYVAHWRNLHFHCMTENEYEDEEAAEEFKITSFVDMVRDCSRIGI
                     PYSSQGHLQIFDMFVVEKWPIVQAFALEGIGGDGFFTMKYELQDVSLNLWNVYSKMDPM
                     SLESLLSDDLVAFEHQWTSFFANFDTEIPFLLELSESQAGEPFRSYFSHGMISSHITEN
                     SPNRQPFVLFGNHSTRENLNAGNFNFPSEGHLVRSTGPGGSFAKHMVAQCVSPKGPLAC
                     SRTYFFGATHVPYLGGDSKLPKKTEQIRLLSQIYAAVIEAVLAGIACYAKTSSLTKAKE
                     VAEQTLGSGLDSFELIPFKAALRSKMTFHIHAVNNQGRIVPLDSEDSLSFVKTACMAVY
                     DIPDLLGGNGCLGSVVFSESFLTSQILVKEKDGTVTTETSSVVLTAAVPRFCSWLVEDN
                     EVKLSEKTQQAVRGDESFLGTYLTGGEGAYLYSSNLQSWPEEGNVHFFSSGLLFSHCRH
                     RSIIISKDHMNSISFYDGDSTSTVAALLIDFKSSLLPHLPVHFHGSSNFLMIALFPKSK
                     IYQAFYSEVFSLWKQQDNSGISLKVIQEDGLSVEQKRLHSSAQKLFSALSQPAGEKRSS
                     LKLLSAKLPELDWFLQHFAISSISQEPVMRTHLPVLLQQAEINTTHRIESDKVIISIVT
                     GLPGCHASELCAFLVTLHKECGRWMVYRQIMDSSECFHAAHFQRYLSSALEAQQNRSAR
                     QSAYIRKKTRLLVVLQGYTDVIDVVQALQTHPDSNVKASFTIGAITACVEPMSCYMEHR
                     FLFPKCLDQCSQGLVSNVVFTSHTTEQRHPLLVQLQSLIRAANPAAAFILAENGIVTRN
                     EDIELILSENSFSSPEMLRSRYLMYPGWYEGKLNAGSVYPLMVQICVWFGRPLEKTRFV
                     AKCKAIQSSIKPSPFSGNIYHILGKVKFSDSERTMEVCYNTLANSLSIMPVLEGPTPPP
                     DSKSVSQDSSGQQECYLVFIGCSLKEDSIKDWLRQSAKQKPQRKALKTRGMLTQQEIRS
                     IHVKRHLEPLPAGYFYNGTQFVNFFGDKTDFHPLMDQFMNDYVEEANREIEKYNQELEQ
                     QEYHDLFELKP"
     misc_feature    113..193
                     /gene="DNAAF9"
                     /gene_synonym="C20orf194"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TEA3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      6893..6898
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAAF9"
                     /gene_synonym="C20orf194"
                     /note="hexamer: AATAAA"
     polyA_site      6912
                     /gene="DNAAF9"
                     /gene_synonym="C20orf194"
                     /note="major polyA site"
ORIGIN
        1 acccggcacg ccctgccgcc ccgcccggcc gcagctagcg tggagccgcc ctgcgggcaa
       61 ctgagaccct cgcagctgca ccgtcctcct ccgccgccag tcgtccgccg ccatggacgt
      121 gtaccccccg cgccggcagg ggctgccccg cgctcggtcc cctggcggct ccagccgcgg
      181 gtcaccctcc gtcagctgca gtcgacttcg gcaggttcag agcatcctga cccagagcag
      241 caagtctcgg ccggatggga tcctctgcat cctaggaatc gatagcaggt acaatgaagg
      301 ctgcagagag ctggcaaatt atcttctatt tggtttgtac aatcagaata ccagtgattt
      361 tgagaaaacg ggattttctg aagaagtact agatgatgta attatattga ttaaatcgga
      421 tagcgtccat ctgtactgta atcctgtaaa ctttcgctat ctcttacctt atgtggcaca
      481 ttggagaaat ctgcatttcc actgcatgac cgaaaatgag tatgaagatg aagaagccgc
      541 agaagaattt aaaattacca gctttgtgga catggttcga gactgtagta gaattggcat
      601 tccttacagc tcccaaggtc acttgcagat atttgatatg tttgtggtgg agaaatggcc
      661 aattgtacag gcctttgcac ttgagggcat tggaggggat ggatttttta ccatgaaata
      721 tgagttgcag gatgtgagtt tgaatctatg gaatgtctac agcaagatgg atcctatgtc
      781 tctggagagt ttgctttcag atgatttggt ggcttttgaa catcagtgga ctagcttctt
      841 cgctaatttt gacacagaaa ttcctttcct gctagaactt tcagaatctc aggcgggtga
      901 gccattcaga agttatttca gtcatggaat gatctctagc catataactg aaaacagccc
      961 taaccggcag ccatttgttc tctttggtaa tcactccaca cgagaaaacc tgaatgctgg
     1021 caactttaac ttcccttctg aaggacatct ggtacgaagc actggtcccg gcgggagctt
     1081 tgccaagcac atggtagccc agtgtgtctc accaaaggga cctcttgctt gttcgagaac
     1141 atactttttt ggagctactc atgttcctta cttgggtggt gacagcaagc tgcccaagaa
     1201 aactgaacaa attaggctat tgtcccagat atatgctgct gttattgagg ctgttttggc
     1261 tggcattgca tgttatgcta aaacttccag tctaacaaag gccaaggagg tagcagagca
     1321 aactctggga tctgggttag attcctttga gttgattccg tttaaggcag ccctgcgctc
     1381 caagatgact tttcatatac atgctgtgaa taatcaggga agaattgtac cgctggacag
     1441 tgaagatagc ttatcctttg tgaagacggc ttgtatggcc gtctatgaca ttcctgactt
     1501 actgggaggc aatggttgtt taggatctgt ggttttctct gaatcatttt tgacttctca
     1561 gatcttagtt aaagaaaagg atggcactgt taccacagaa accagctccg tagtcctgac
     1621 tgctgctgta cccagattct gctcctggct ggtggaagat aatgaagtaa aattgtctga
     1681 gaaaacccag caagcagtga ggggggatga gtctttcctg ggcacttatc taacaggagg
     1741 agaaggagca tatctttatt ccagcaatct acagtcctgg cctgaggaag ggaatgttca
     1801 tttcttctct agtggccttc tgttttctca ctgtcgtcat agaagtatca tcatttccaa
     1861 ggatcacatg aattccattt ccttctatga tggggattcc accagtactg ttgctgctct
     1921 tctcatagac ttcaaaagct cattgcttcc tcacctccca gttcatttcc atggatcaag
     1981 caattttctg atgattgccc ttttccccaa atcgaagata taccaagcat tttactcaga
     2041 ggtcttctcc ctctggaaac agcaggataa ctcagggatc tctttaaaag tgatccagga
     2101 agatggatta tctgtggaac aaaagagatt gcactccagt gcacagaagc tcttcagtgc
     2161 cctgagccag cctgctgggg agaaacggag ttccctaaag ttactctcag ccaaactccc
     2221 agagctggac tggtttctcc agcatttcgc catcagcagc attagccagg agcctgtgat
     2281 gcggacccat cttcctgtgc tgctgcagca agctgaaatc aacactactc acagaataga
     2341 aagtgacaag gtaattatca gcattgtaac cggcctccca ggctgtcacg ctagcgagct
     2401 ctgtgctttt ctggtcactc tgcataagga atgtggcaga tggatggtgt atcgccaaat
     2461 catggacagc tctgaatgtt ttcatgctgc acacttccag agataccttt ccagtgccct
     2521 agaggcccag cagaaccgct ctgcgcgcca gtcagcctac atccgcaaga agaccagact
     2581 gctggtggtg ttacaaggct acacagatgt tattgatgtt gtccaggccc tgcagaccca
     2641 cccagactca aatgtcaagg cctccttcac cattggtgcc atcacagcat gtgtggagcc
     2701 catgagctgc tacatggagc acagatttct ctttcctaaa tgtcttgacc agtgttcaca
     2761 aggcctggtg agtaacgtgg tattcaccag tcacaccacg gagcagcggc accctctcct
     2821 tgttcagctg cagagcctca tcagggctgc caatcctgct gcagccttca ttcttgcaga
     2881 aaatgggatt gtcaccagga atgaagacat tgagctgatt ctctcagaaa acagtttttc
     2941 aagtcctgag atgctacgat ctcgatattt aatgtatcct ggctggtatg aaggtaaatt
     3001 gaatgctgga tcagtctatc ccctaatggt tcagatctgc gtatggtttg gccgtccctt
     3061 ggagaagact cgctttgtgg ccaaatgtaa agcaattcag tcctccatca agccaagtcc
     3121 cttctccgga aacatctacc acatcctggg caaagtgaag ttttcagact ctgagaggac
     3181 catggaggtc tgctacaaca cactggccaa ctccttgagc atcatgccag ttttggaagg
     3241 acccacacca ccaccagact ccaaaagcgt atctcaagac agcagcgggc agcaggagtg
     3301 ctaccttgtg ttcatcggct gctccctgaa ggaagacagc atcaaggact ggctgcggca
     3361 gtcagctaag cagaagcctc agaggaaagc cctgaagacc agggggatgc tgacgcaaca
     3421 ggagatcagg agcatccacg taaaacgcca cttggaaccc ctacctgcag gctactttta
     3481 taatggcacc caatttgtta acttctttgg tgacaaaact gattttcacc cactcatgga
     3541 ccagttcatg aatgactacg tggaagaagc caaccgggaa attgagaagt ataaccagga
     3601 gctggaacag caggagtatc atgacctctt tgagctgaag ccctagagga aggctgggcc
     3661 cgtacgtcct gcagaatgtc caccttggag atggacgaac gggtgtctta acctcagctc
     3721 tgctggaggc ctctccctta aggggctgtc tttgttctcc ttggcctgtg tgggctggct
     3781 tgagtgcatg ttgtctttat tccctgtata gcgctgaaga gcatcacctg caccattgat
     3841 tttgggggtc gggggaatac tcaaggatga gcagatgggg cctgcccgtc tacgtgtgca
     3901 actggcagtc caggagctct gggtttctga taacaggatc tcctttgggc tcttgaggtt
     3961 ggggagaagc attaggatta cacagaggag ctactgggac ttagaaggaa ccctggctgc
     4021 ctgaactgtg gccgtgtctg ggaggcgagg ccacgacagg cctcaagcct cagatgctgc
     4081 tccacgagag ccatcttccc cagtggagtg cctgcctccc ctgctaggcc cgtttccctg
     4141 aaggagctgg ccgtactggc cgtgggccca gtcctgggag gagcagcaca gccttgccca
     4201 ggcccagtcc acagagccag cagcttgggt tgagatgaat gatgtgttca caaatgaggg
     4261 gatttccctt ctggactaaa ctgaaggaga ggcttgttgc tttccagagg tgtgtggctc
     4321 ttaagttgac atcagctttt ccccttgtgg gtggttcttt agctctcctg tcacaccatt
     4381 cgggtgtcct aatgtaggga caagagcaag cctgctgctc aggccccctg gcgaggcttc
     4441 acctcactgt ggaagggggc gtcctgcagc tggttagtct taggcctggt ggctgatcac
     4501 ttgtggggtc agtctccagc acccagcgct cccacaagcc ttgccaagga aggcctgctt
     4561 ttcagccaca aacttcagga aactcatccc cccgctcccc aaagtgttgt tgctggccct
     4621 gggcttgtgt ggctcctgag gattgggaat ttcaaataat tgcaatacct gagttagaat
     4681 tccttctaat ggcatcgttt taagctggac cataaagcag aggggaatta caagtgtgtc
     4741 ccatgcctga ccttcataat tggtgtgggg gacaggggag tcacagccac tgatatttag
     4801 gtgatgtctc ttaggacttc agtgcctcag ctgcctgaac tgtaaatgtt ttctgaattt
     4861 cacatatttt tttttgcatg ccttaggaag aagcacatag gtaaaaccag cagtttccag
     4921 taatataggg ggtttttgag caaggcccct ggagcagcgg agagacaaga tggagcacat
     4981 gtagtctgtg tgcctggtca cacagaggcc tgcatgcaag tagcaaagca gctctcaagg
     5041 gcttgtcagt aaaatatatt agaaaaaaaa aaaaaacaat ttgaagccaa atgaacaaaa
     5101 ctccagatac cattgataag aaattttgca tcaagaaggg cttctgaaaa gacccacgtg
     5161 ctccagtccc agctccaaaa gccactgatg acaagggccc cactgtggaa cctaagtctg
     5221 ggagccccct gacttctggc tggccagagg ctgcggtccg tcaagggctt gcctcgcttc
     5281 agaatcagta acatagatct taagtgcaat tgattaataa gcagtgagtt actgtagctt
     5341 cctttagctc taccgaactc tttttaaaaa ctcaaacttg agcagcctta gaaaaggggt
     5401 tggggggtgg gaaccacagg ccatttctct aagtgggctg ctgtgaagtt ttaaatgaaa
     5461 gctctagctt taggagcttg agccatttcc tgactgcact ggcctggcag tctggctgct
     5521 gcagaagagt ttttaaagag gggtcggagc ccgcccgtga gagcgggtct tctcaccatg
     5581 tggggctgta ctacgtggtg gtctttgttt ctcttcacag aaatgctctc tcaccaactt
     5641 gccccactgt cccaactcct ctcctcttag agaaaaaact gtgattacct caacttgaat
     5701 atgaaactgt gattgaaaaa agtcaaaacg tgaagaagca tcaaagccaa aaaggcaaaa
     5761 ctggctgagg cctctgttga tgctcctcag cctactcggg aacgtgaagg ggcagctggc
     5821 gaaagggcat tcctggggcc acttgctctg ccccactgat aaggcacacc cgcggtgcac
     5881 tgtgagctct ttgaggactg aggccagggg atgcctcctg gaacctgcca ggcctctctg
     5941 ttctgtgaag gtcagtatcc acttgattcc tccaggcggc gctccaggtg ggaggagcag
     6001 ggtcttctgc tgtttccaaa ggaatggcca tgacactgct tttgacctta gaagtggatc
     6061 cagggaccca gcaaagagcg ggggtgggtt cccagggaca ggcagtcctc ccggggctta
     6121 catgcttttt gctaactttc ctattagcag cttcagttta tatcacccag agtgcgtggg
     6181 ataatgttga agtcgctgaa gttacgggtt attttatgtt tttacatggg atttttctgt
     6241 ttttgattgg aagaaggaga cagaaattgg aggaaatggg attattatcc tagggaaggg
     6301 ccgttggcaa ggagttgagc cggcccctct gagccctggg ggctatctga cctgaagcct
     6361 ggacactggg cccttcaggt cgcaagaaaa agttccctcc taaattctat taggattttg
     6421 gagaattttt gcacagtaag aagctctggg ttgctccttg ggcttctcaa aagggaaaag
     6481 ttcaattcaa agattgtaaa ctacgaagta ttccagccgt gttgctgatc tagttggata
     6541 gttgtacctc aaaaaagtag gtgagaactg gcttcctcat tgtcccagga tgtcaaatac
     6601 taatgacata agagctcact tacgtgccaa aattcacttt tatactagtt tttcagtgct
     6661 ttaatatttg taacttaaat tttaaaactc gtatttacaa acactactgt aacttcagtg
     6721 aaactgaatt gtgcgattga agctttttgc ttatcatagt atttattaca ctacttaatt
     6781 cagtaaatat ataaaagtag ccttcaattt atttttatat tattttacat gtttttacct
     6841 gcagttgtgt atgtgaattt accttggtaa tcgagatgtc atgctaagga ccaataaact
     6901 atcactgaac aa
//
LOCUS       NM_001009992            3649 bp    mRNA    linear   PRI 07-MAR-2023
DEFINITION  Homo sapiens zinc finger protein 648 (ZNF648), mRNA.
ACCESSION   NM_001009992
VERSION     NM_001009992.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3649)
  AUTHORS   Ferguson DCJ, Mokim JH, Meinders M, Moody ERR, Williams TA, Cooke S,
            Trakarnsanga K, Daniels DE, Ferrer-Vicens I, Shoemark D, Tipgomut C,
            Macinnes KA, Wilson MC, Singleton BK and Frayne J.
  TITLE     Characterization and evolutionary origin of novel C2H2 zinc finger
            protein (ZNF648) required for both erythroid and megakaryocyte
            differentiation in humans
  JOURNAL   Haematologica 106 (11), 2859-2873 (2021)
   PUBMED   33054117
  REMARK    GeneRIF: Characterization and evolutionary origin of novel
            C<sub>2</sub>H<sub>2</sub> zinc finger protein (ZNF648) required for
            both erythroid and megakaryocyte differentiation in humans.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3649)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3649)
  AUTHORS   Leger PD, Johnson DH, Robbins GK, Shafer RW, Clifford DB, Li J,
            McLaren PJ and Haas DW.
  TITLE     Genome-wide association study of peripheral neuropathy with
            D-drug-containing regimens in AIDS Clinical Trials Group protocol
            384
  JOURNAL   J Neurovirol 20 (3), 304-308 (2014)
   PUBMED   24554482
REFERENCE   4  (bases 1 to 3649)
  AUTHORS   Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni
            S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS,
            Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R,
            Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K,
            Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkila K,
            Hypponen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen
            M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikainen LP, Magnusson
            PKE, Mangino M, Mihailov E, Montasser ME, Muller-Nurasyid M, Nolte
            IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena
            R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ,
            Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik EG,
            Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher D,
            Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL, Brambilla P,
            Burnett MS, Cesana G, Dimitriou M, Doney ASF, Doring A, Elliott P,
            Epstein SE, Ingi Eyjolfsson G, Gigante B, Goodarzi MO, Grallert H,
            Gravito ML, Groves CJ, Hallmans G, Hartikainen AL, Hayward C,
            Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones MR, Kaleebu
            P, Kastelein JJP, Khaw KT, Kim E, Klopp N, Komulainen P, Kumari M,
            Langenberg C, Lehtimaki T, Lin SY, Lindstrom J, Loos RJF, Mach F,
            McArdle WL, Meisinger C, Mitchell BD, Muller G, Nagaraja R, Narisu
            N, Nieminen TVM, Nsubuga RN, Olafsson I, Ong KK, Palotie A,
            Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP, Ridker PM,
            Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl H, Seeley J,
            Silander K, Stancakova A, Stirrups K, Swift AJ, Tiret L,
            Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga C,
            Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH,
            Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud M,
            Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier M,
            Campbell H, Chakravarti A, Chambers JC, Chen YI, Collins FS, Cooper
            RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrieres J,
            Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V, Gyllensten
            U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN, Hofman A,
            Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K, Iribarren C,
            Jarvelin MR, Jula A, Kahonen M, Kaprio J, Kesaniemi A, Kivimaki M,
            Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J, Kyvik KO,
            Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, Marz W, McCarthy
            MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L, Morris AD,
            Munroe PB, Njolstad I, Pedersen NL, Power C, Pramstaller PP, Price
            JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D, Salomaa V,
            Sanghera DK, Saramies J, Schwarz PEH, Sheu WH, Shuldiner AR,
            Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO, Tremoli
            E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P, Wallentin
            L, Wareham NJ, Whitfield JB, Wolffenbuttel BHR, Ordovas JM,
            Boerwinkle E, Palmer CNA, Thorsteinsdottir U, Chasman DI, Rotter JI,
            Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS, Boehnke M,
            Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E and Abecasis GR.
  CONSRTM   Global Lipids Genetics Consortium
  TITLE     Discovery and refinement of loci associated with lipid levels
  JOURNAL   Nat Genet 45 (11), 1274-1283 (2013)
   PUBMED   24097068
REFERENCE   5  (bases 1 to 3649)
  AUTHORS   Qi L, Qi Q, Prudente S, Mendonca C, Andreozzi F, di Pietro N, Sturma
            M, Novelli V, Mannino GC, Formoso G, Gervino EV, Hauser TH,
            Muehlschlegel JD, Niewczas MA, Krolewski AS, Biolo G, Pandolfi A,
            Rimm E, Sesti G, Trischitta V, Hu F and Doria A.
  TITLE     Association between a genetic variant related to glutamic acid
            metabolism and coronary heart disease in individuals with type 2
            diabetes
  JOURNAL   JAMA 310 (8), 821-828 (2013)
   PUBMED   23982368
REFERENCE   6  (bases 1 to 3649)
  AUTHORS   Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM,
            Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, Johansen
            CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, Ricketts SL, Bis
            JC, Aulchenko YS, Thorleifsson G, Feitosa MF, Chambers J,
            Orho-Melander M, Melander O, Johnson T, Li X, Guo X, Li M, Shin Cho
            Y, Jin Go M, Jin Kim Y, Lee JY, Park T, Kim K, Sim X, Twee-Hee Ong
            R, Croteau-Chonka DC, Lange LA, Smith JD, Song K, Hua Zhao J, Yuan
            X, Luan J, Lamina C, Ziegler A, Zhang W, Zee RY, Wright AF, Witteman
            JC, Wilson JF, Willemsen G, Wichmann HE, Whitfield JB, Waterworth
            DM, Wareham NJ, Waeber G, Vollenweider P, Voight BF, Vitart V,
            Uitterlinden AG, Uda M, Tuomilehto J, Thompson JR, Tanaka T, Surakka
            I, Stringham HM, Spector TD, Soranzo N, Smit JH, Sinisalo J,
            Silander K, Sijbrands EJ, Scuteri A, Scott J, Schlessinger D, Sanna
            S, Salomaa V, Saharinen J, Sabatti C, Ruokonen A, Rudan I, Rose LM,
            Roberts R, Rieder M, Psaty BM, Pramstaller PP, Pichler I, Perola M,
            Penninx BW, Pedersen NL, Pattaro C, Parker AN, Pare G, Oostra BA,
            O'Donnell CJ, Nieminen MS, Nickerson DA, Montgomery GW, Meitinger T,
            McPherson R, McCarthy MI, McArdle W, Masson D, Martin NG, Marroni F,
            Mangino M, Magnusson PK, Lucas G, Luben R, Loos RJ, Lokki ML, Lettre
            G, Langenberg C, Launer LJ, Lakatta EG, Laaksonen R, Kyvik KO,
            Kronenberg F, Konig IR, Khaw KT, Kaprio J, Kaplan LM, Johansson A,
            Jarvelin MR, Janssens AC, Ingelsson E, Igl W, Kees Hovingh G,
            Hottenga JJ, Hofman A, Hicks AA, Hengstenberg C, Heid IM, Hayward C,
            Havulinna AS, Hastie ND, Harris TB, Haritunians T, Hall AS,
            Gyllensten U, Guiducci C, Groop LC, Gonzalez E, Gieger C, Freimer
            NB, Ferrucci L, Erdmann J, Elliott P, Ejebe KG, Doring A, Dominiczak
            AF, Demissie S, Deloukas P, de Geus EJ, de Faire U, Crawford G,
            Collins FS, Chen YD, Caulfield MJ, Campbell H, Burtt NP, Bonnycastle
            LL, Boomsma DI, Boekholdt SM, Bergman RN, Barroso I, Bandinelli S,
            Ballantyne CM, Assimes TL, Quertermous T, Altshuler D, Seielstad M,
            Wong TY, Tai ES, Feranil AB, Kuzawa CW, Adair LS, Taylor HA Jr,
            Borecki IB, Gabriel SB, Wilson JG, Holm H, Thorsteinsdottir U,
            Gudnason V, Krauss RM, Mohlke KL, Ordovas JM, Munroe PB, Kooner JS,
            Tall AR, Hegele RA, Kastelein JJ, Schadt EE, Rotter JI, Boerwinkle
            E, Strachan DP, Mooser V, Stefansson K, Reilly MP, Samani NJ,
            Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, van Duijn
            CM, Peltonen L, Abecasis GR, Boehnke M and Kathiresan S.
  TITLE     Biological, clinical and population relevance of 95 loci for blood
            lipids
  JOURNAL   Nature 466 (7307), 707-713 (2010)
   PUBMED   20686565
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK128654.1, BC137223.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145245,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000339948.3/ ENSP00000344129.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355482.13.
            On Jan 22, 2005 this sequence version replaced XM_060597.2.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..3649
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.3"
     gene            1..3649
                     /gene="ZNF648"
                     /note="zinc finger protein 648"
                     /db_xref="GeneID:127665"
                     /db_xref="HGNC:HGNC:18190"
     misc_feature    191..193
                     /gene="ZNF648"
                     /note="upstream in-frame stop codon"
     CDS             209..1915
                     /gene="ZNF648"
                     /codon_start=1
                     /product="zinc finger protein 648"
                     /protein_id="NP_001009992.1"
                     /db_xref="CCDS:CCDS30952.1"
                     /db_xref="GeneID:127665"
                     /db_xref="HGNC:HGNC:18190"
                     /translation="MAQVDSQDRWGEASPLSSLTEEAHDTQMLSMNLESDDEDGGEAEK
                     EGTADPVACPRGSSPVTHENPDLPWPHPLGKEEEKFSDSSSAGGMGQKPVEMSGKASWS
                     RDVTKINETQGSPGASRALGSLPSGLAHKLLGQMQPLGDRLPAGDDGYSGANQDAVLDV
                     PPSFPSNGKYLCAHKSVDTSAGNSSLLCFPRPGSNWDLPTQETHTPAQASATPASLAAA
                     VLAKARNSRKVQNQAGRREGGEAEARPYRCLRGGRAFQKPSKPLSPAETRGGAAKRYAC
                     ELCGKAYSHRGTLQQHRRLHTGERPYQCSFCDKAYTWSSDHRKHIRTHTGEKPYPCPDC
                     GKAFVRSSDLRKHQRNMHSNNKPFPCSECGLTFNKPLSLLRHQRTHLGAKPFRCPACDR
                     EFAVASRMVEHQRVHSGERPFPCPTCGKCFTKSSNLSEHQTLHTGQRPFKCADCGVAFA
                     QPSRLVRHQRIHTGERPFPCTQCGQAFARSSTLKRHQQIHSGEKGFLCAECGRAFRIAS
                     ELAQHIRMHNGERPYQCEDCGQAFTRSNHLQRHRAKHGTCKKEPIPSSSDE"
     misc_feature    209..526
                     /gene="ZNF648"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T619.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1850..1912
                     /gene="ZNF648"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T619.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3628..3633
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF648"
                     /note="hexamer: AATAAA"
     polyA_site      3649
                     /gene="ZNF648"
                     /note="major polyA site"
ORIGIN
        1 ctctgcagcc gctggactgg acacaaagcg tgagagacag agacaccatc tctgctgatt
       61 tgtacctaac tggttcctgt tgctgagagc ccacgtgtca cagaagccag ggcagaggcc
      121 ccacactgct gtctgcattt cccaggtatc ctgagccaag caggatactc ctcctcagag
      181 gagtaggcaa tagaagcgcc tgaacatcat ggcacaagtg gactcccagg acaggtgggg
      241 agaggcgtct cctctcagca gcttgactga ggaagctcat gacacccaga tgctgagcat
      301 gaacttagag agtgacgatg aagatggtgg ggaggccgaa aaagagggca ccgctgaccc
      361 ggtggcctgt ccaaggggca gctccccagt aacacacgaa aatcctgact tgccatggcc
      421 ccatccactg ggcaaagagg aagagaaatt ctctgactcc tccagtgctg ggggcatggg
      481 gcagaaacca gtggaaatgt ctgggaaagc cagttggagc agagatgtga caaagatcaa
      541 cgagacccag ggttccccgg gagcaagcag agctctgggt tcccttccca gtggtctcgc
      601 acacaaattg ttaggtcaga tgcaacctct tggggaccga ctacctgcgg gtgatgatgg
      661 atactcgggg gcaaaccagg acgcagtctt ggatgtccca cccagcttcc ccagcaatgg
      721 aaagtatctc tgtgcgcaca aaagtgtaga cacgtccgca gggaactctt ctctgttgtg
      781 tttccccagg ccggggagca actgggacct tcccacgcaa gagacacata caccagccca
      841 ggcgtcggcc accccagcca gcctggctgc cgcggtcctg gcaaaagcgc ggaacagcag
      901 gaaagtacag aaccaggcgg gccggcgcga gggcggagag gctgaggcgc gtccctacag
      961 gtgcctgcgg ggcgggcggg cctttcagaa gcccagcaag ccgctgagcc ccgcggagac
     1021 gcgcggcggc gccgccaagc gctacgcgtg cgagctatgc gggaaggcct actcccaccg
     1081 cggcacactc cagcagcaca ggcgcctgca cacgggcgag cggccctacc agtgctcctt
     1141 ctgcgacaag gcctacacct ggtcctccga ccaccggaag cacatccgca cccacacagg
     1201 cgagaaaccc tacccgtgtc cagactgcgg gaaggccttc gtgcgctctt cggacctgcg
     1261 caaacaccag cgcaacatgc acagcaacaa taagcccttc ccgtgctccg agtgcggcct
     1321 gaccttcaac aagccgctgt cgctgctgcg ccaccagcgc acgcacctgg gcgccaagcc
     1381 cttccgctgc cccgcctgcg accgggagtt cgctgtggcc agccgcatgg tggagcacca
     1441 gcgcgtgcac tcgggcgagc ggcccttccc ctgccccacc tgcggcaagt gcttcaccaa
     1501 gtcctccaat ctgtccgagc accagacgct gcacaccggc cagaggcctt tcaagtgcgc
     1561 tgactgcggc gtggccttcg cgcagccctc gcgcctcgtg cgccaccagc gcatccacac
     1621 tggcgagagg ccctttcctt gcacgcagtg tggccaggcc tttgcccgct cttcgaccct
     1681 gaagcggcac caacagatcc actccgggga gaagggattc ctctgtgccg agtgcggcag
     1741 ggccttccgc attgcctctg agttggccca gcacatacga atgcacaacg gagagaggcc
     1801 ctaccagtgt gaggactgcg gccaggcctt caccaggtcc aatcacctcc aacgacaccg
     1861 agccaagcac ggcacctgca agaaggagcc catcccttcc tcctctgacg agtgaagata
     1921 gcatcgtcga cctcactact tggaaccttc ccaggtgggc ccactcacat ggtattgcca
     1981 gcctcactgg tcagcctcgc ctcccagcag gtcgcgggtc atcagtggtc catttgatta
     2041 tttatttgat cccttgaaca gaaagtcacc accgagagag cacccaggtg ggtggtttca
     2101 catcagtggt tctgagtgtc cgaggtcata agcaattgga aaagggaaag acaaagtagt
     2161 gggagctgat caaacgttga gttccttggg ttggggaacc tgaatcaatc agaaactgct
     2221 tctagaatta catgctgggc actgggccgg gctccaggga taaggtgggg aaaaagacta
     2281 acctgtccta ccctcaaagc catatgcaaa tactgaaaag aaggcctgag gggctggtcc
     2341 tctttagaga aagatgcttt ttggttttta tataaataaa ggaatcccca gaagtggtcc
     2401 ctatgatgaa ctcccccaaa gcaacgccgt ttttggagga actcaaaccc agtccaacat
     2461 cccatcattt cacttgactg cagaaatggc tttaccctta ggatatatct ttatgagtct
     2521 tggctttgaa gtggagaagg gctttatctt agagaaggtg gtttatgtca tattccagtt
     2581 attctagaag ttcaggacag ccttagcatc tgaaaaagaa gcccattcct ctttatagtg
     2641 gaatttagta agtagatcta acccgagtct cacccacaga attcatataa attcatatat
     2701 gccttctctc tggctgcctc ttttcctgtt tgcactctga gggcttaagt catatgtgat
     2761 atttacaaag caattggccc atttacagag agacatatat aatttctcca caaagccttg
     2821 accatggttc atgaaaccgt ttgggttcat ttaaatttgt ctgaatcatt agtcttgact
     2881 tgaagtgaac aaaacaccct ttgcccaagt gccattggct tgtctgcatt tcaaaatcat
     2941 taaaaccagg tatggaagcc tacgtgctca cagttatcta atgaggttat ttcaaagttt
     3001 gcattactaa cagccattct gcaaagtgta ttgatgtgta tagtgatctg tataaagtca
     3061 gtagttctta gctgaacctc aactgtgagg aatctatgac tccacagatg tccttggtgc
     3121 acataggcaa acggcacttc tcatcttact gaagttaaat aagatattcc ataagaaggt
     3181 atagtgccct ttttggggga gtacctttag tatattccta aaattgccac caaagaatgc
     3241 caaatctgaa tttctcttgg tttccacctg atttggaact agggtgtgac ctctaaatag
     3301 cattctcatg acacatgggg gcgccaaaga gaagtaagag agatagctag atagctagat
     3361 agctagatag tcttgtgtct tgtttgacca aggtaaccgt aataaaagag tccatcccca
     3421 tcctttactg ttgatgtgac cttgggcttc agtttctgca tctgcattgg caaaatagaa
     3481 gtgatagtag taggtaaaag ttagagtgat cctactatat gacggaaact ttggctggat
     3541 gcaagagctt taaattggta gaaaagtcac aagatgagct tgtgactatg aagagagcaa
     3601 aagctaactt ttttttccta gataatcaat aaaatatttg aagactgaa
//
LOCUS       NM_001009993            5435 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens family with sequence similarity 168 member B (FAM168B),
            transcript variant 1, mRNA.
ACCESSION   NM_001009993
VERSION     NM_001009993.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5435)
  AUTHORS   Pramanik S, Kutzner A and Heese K.
  TITLE     Livebearing or egg-laying mammals: 27 decisive nucleotides of FAM168
  JOURNAL   Biosci Trends 11 (2), 169-178 (2017)
   PUBMED   28381702
REFERENCE   2  (bases 1 to 5435)
  AUTHORS   Mishra M, Akatsu H and Heese K.
  TITLE     The novel protein MANI modulates neurogenesis and neurite-cone
            growth
  JOURNAL   J Cell Mol Med 15 (8), 1713-1725 (2011)
   PUBMED   20716133
  REMARK    GeneRIF: novel protein MANI (myelin-associated neurite-outgrowth
            inhibitor)localizes to neural membranes; findings describe the novel
            MANI-Cdc27-APC pathway as an important cascade that prevents neurons
            from extending axons
REFERENCE   3  (bases 1 to 5435)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.256114.1,
            SRR1660807.202620.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467148
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000389915.4/ ENSP00000374565.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CN418443.1, DB453209.1 and BC110642.1.
            On Nov 22, 2018 this sequence version replaced NM_001009993.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5435
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.1"
     gene            1..5435
                     /gene="FAM168B"
                     /gene_synonym="MANI"
                     /note="family with sequence similarity 168 member B"
                     /db_xref="GeneID:130074"
                     /db_xref="HGNC:HGNC:27016"
                     /db_xref="MIM:620078"
     misc_feature    145..147
                     /gene="FAM168B"
                     /gene_synonym="MANI"
                     /note="upstream in-frame stop codon"
     CDS             259..846
                     /gene="FAM168B"
                     /gene_synonym="MANI"
                     /note="protein FAM168B"
                     /codon_start=1
                     /product="myelin-associated neurite-outgrowth inhibitor"
                     /protein_id="NP_001009993.2"
                     /db_xref="CCDS:CCDS42755.1"
                     /db_xref="GeneID:130074"
                     /db_xref="HGNC:HGNC:27016"
                     /db_xref="MIM:620078"
                     /translation="MNPVYSPGSSGVPYANAKGIGYPAGFPMGYAAAAPAYSPNMYPGA
                     NPTFQTGYTPGTPYKVSCSPTSGAVPPYSSSPNPYQTAVYPVRSAYPQQSPYAQQGTYY
                     TQPLYAAPPHVIHHTTVVQPNGMPATVYPAPIPPPRGNGVTMGMVAGTTMAMSAGTLLT
                     AHSPTPVAPHPVTVPTYRAPGTPTYSYVPPQW"
     misc_feature    259..261
                     /gene="FAM168B"
                     /gene_synonym="MANI"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (A1KXE4.1); acetylation site"
     misc_feature    274..276
                     /gene="FAM168B"
                     /gene_synonym="MANI"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (A1KXE4.1); phosphorylation site"
     misc_feature    313..384
                     /gene="FAM168B"
                     /gene_synonym="MANI"
                     /note="propagated from UniProtKB/Swiss-Prot (A1KXE4.1);
                     transmembrane region"
     misc_feature    394..396
                     /gene="FAM168B"
                     /gene_synonym="MANI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A1KXE4.1); glycosylation site"
     misc_feature    685..750
                     /gene="FAM168B"
                     /gene_synonym="MANI"
                     /note="propagated from UniProtKB/Swiss-Prot (A1KXE4.1);
                     transmembrane region"
     regulatory      5413..5418
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM168B"
                     /gene_synonym="MANI"
                     /note="hexamer: AATAAA"
     polyA_site      5435
                     /gene="FAM168B"
                     /gene_synonym="MANI"
                     /note="major polyA site"
ORIGIN
        1 gtcggcggct ccggtggctg cgcagcgtcg gcggggagcg cgggctgcgg agaggcgggc
       61 cgggccaagc ggagccgagc gagcgggagc gcggcgtccg ggaggcggcg gagacgcggg
      121 gctcggaggg tcagcctctt atcgtagcag gtctcctcgg cacgcccccc ttgtttcgcc
      181 ccacggccaa gcccgccgcg ggccggcgtg cgctggtcac tgaggcccag gtcgccgccg
      241 cggcgcgttt ttgaaatcat gaatcctgtt tatagtcctg gatcttctgg ggttccctat
      301 gcaaatgcca aaggaattgg ttatccagct ggttttccca tgggctatgc agcagcagct
      361 cctgcctatt ctcctaacat gtatcctgga gcgaatccta ccttccaaac aggttacact
      421 cctggcacac cttacaaagt gtcctgttcc cccaccagcg gggctgtgcc accgtactcc
      481 tcctccccga acccctacca gactgccgtg taccctgtgc gaagtgccta cccccagcag
      541 agcccgtatg cacagcaagg cacgtactac acacagccgc tgtatgcagc acctcctcac
      601 gtcatccacc acaccacggt ggtgcagccc aacggcatgc ctgcaacggt gtaccctgct
      661 cccatccccc ctcctagagg caacggggtc accatgggca tggtggctgg gaccaccatg
      721 gccatgtcag caggtaccct gctgactgct cactccccaa ctcctgtcgc cccccacccg
      781 gtcactgtgc ccacgtaccg ggccccagga acgcccactt acagctatgt gccccctcag
      841 tggtgatcac ctgcaaatgt ttgaggacgg agctgtgcag tcacattatt ggggattcca
      901 cagctggtgc tgcaggcctt gcgcctccaa ccaggacttt cttcttaatg ctctcgacac
      961 ttagctaaac acgactatat cccggcccag caggccccag cgccgttagt ctccagctga
     1021 ctctgtgggt tggtcttaaa gcaaattctg ttttgtggac tgcctggcaa ttttttagct
     1081 aactgtaatg ataaaaaggg agtattaatc tattctgaat catatctagt tgaatgcatg
     1141 tttaaaaaaa caaacacaaa aagcttgctc aatctacctg cagtgactga tgcaaaacca
     1201 tcatatgcaa aatccaaagg aatggaaacg tattttacaa cttgtatcac taatgcactg
     1261 ttgtaatgta tgcaaagtct tacagttata agtgttaaag tgaatttctt catagagcat
     1321 ctgaaatatc ttagatgatt cttcaacctt ttggggttga tgtgggttgc cagttaggga
     1381 tgtggacatt ttagttttca gcgacctgtt tctttggcac tgactgtcct gggagggagt
     1441 tgcgaggttt gggagagagt agggaagcca cagctgcttg ggtgcagctg gttcatggac
     1501 atccctttga gtttaggctt ggtggagtca gtggaacagg gacatgctta aagctcatca
     1561 tgaaagatta tggtagtgtg gccagtgaaa tttggggcga ggggggtggt ttatgtgtca
     1621 gcaaagcagt ttctctgcta tctaaatttt cattacagtt ctcttagaga gatgatgttt
     1681 ttatatgtct ttattggaaa agtcctatgt aaaactaaat tattttcctg ggatggaaga
     1741 aatgtgaaag agaaacagcc atgcttgcag gaggtattgt cctctgcttt atttagctta
     1801 gaaaatcatt cctttttttt tttttttcct ggagaaatgt ttgaatcagc tgaaaacagg
     1861 taggcattgc tgtttttccc caacaaagaa gggcaaaggt ttcagctgta tgttatgaag
     1921 aaagtggtat atttaagaat gagttaaaag ggaacaaaac tttatttaaa attcctccaa
     1981 tttcttgtag aaaggcaggg ccgtggatat gtctggaaat gtagaaacct gtagctgctt
     2041 ctgggatcac ccacctgatg gtggtgactt gtctgctgag gccggctgga ggggacgctt
     2101 agagatgggg cgagggggag gccagtgtct gttgtctgcg agcctctcct gccatctctt
     2161 ttgcagctga gggcacttgg cacaaagcaa gcacagacag cagagagggc caggcagtgc
     2221 tggagtgcgt ttgctggcag ggtttattgt gggagaggaa tttgagttta ggatctgaat
     2281 cttgtacata agaaatgaaa aggcttccct ccaccccgcc cccaaaatat gcccgtcctg
     2341 tatccatgag agtgcatgtc ggttctcagt gagggtcaga gtgggggtgg gggatgtaag
     2401 gcctgggtcc ctttcagcgg cctctagggc aggagcgtgc gtcttcttcc cagtgcagtg
     2461 gtggtttgag tgctgtgggc tctggtgggg agggggctct gctcctcttc atttgctggt
     2521 agctgggtca gggcactggc gcccagtgag gatgcccact agcattctgc cccagttggt
     2581 tggtgggggg acacctgacc actgagcctt tggtaacctt attttttata gtaagtactt
     2641 cttataattt tctttttcac atcttatttt ataagaagtt taggaatatt tttgcatgga
     2701 tcattgtaaa cagcagattc tttattcctg atgtctatta acatagaatg tttactgata
     2761 agtactttaa attgcttcat gagcacttaa tccatcttag tgtctatgtg tgggggcaga
     2821 catttaccgc aggcacacag tttgtgcccc tttcttcaag tctctgttgg taattccatc
     2881 tgtttagtgg atggttggca ggattagtag gttctaacgg ttccaggggt tcagctgacc
     2941 aagtagcaga gaagtctttt ttcccaattg agtgctaata gattaggata aaatactcac
     3001 aatgttagtg tatgctttta aaaagcccca cacaacaaaa tggaaacata catgtacaac
     3061 tcctgtgagg gctggagtct tggggttcag gaggaggtta gaagttacag gcatctcttc
     3121 aggcttgctt ggtacttggc acacacagga tggtgtttta aagagtgggc tgcacccccc
     3181 acacgccatt tacatcagct tcataaacac ttttcttcct ccctgtaact taaccttttt
     3241 tcccttttat gaagttgaga ggctttatga aataagtttg cattgcacat ccgtgcagaa
     3301 atctttctga ctttgaaatt tttaggacgt cagctgtcag atacgaaagg tagatatcag
     3361 gtaagaatct ggacttagga aatagtcaca aaactgtcat aggttgtaat tttatcaaca
     3421 ttcgcttcta gtaaaattaa agtcaattaa gaaatagaac ttgggtcaaa attctgttac
     3481 aaagcttcat aatttgtccc gaagcatatg gtggagcatt ctgagaaatt tgctttttgt
     3541 gtgtttgaca ttcctaattt gggagtcctt cagctgaatt actattcttt tagaagttga
     3601 gacagcaggt aagcaaagga cctagttcat gtaaacatgg acatcatgat ggctatttaa
     3661 aaaatatttg ttctacacct tctcccctga ggcttgggga gtgtgttcag ccgctgcagt
     3721 ttctctgctc atggaggtct tgtttggatc tgtgctggcg gctgagcatt tagtgtgagc
     3781 cagtgaccca tgaacttgcc gctctgtgag ggccagagtc agggccagtc atggtaatgg
     3841 gcctgaaggc acttccagaa ccttttatgt ctctcgtgag ccatctgtta agaacgttct
     3901 tcttggtgtg gtttgtaggc ctacctgtcg ctattctggg aaaccttctt gagtgctatg
     3961 caaatgtgtt cacaggcaat gggggtggtc ctgagccttg gggtgggcac ctggtcagtg
     4021 agtgtcttgc ccttccccag ctgggcatac agtaccttgc tctttctggt ggcatcatct
     4081 ggctgtgatg aatgaggtct aggaaataat ttgcatgtgt cttgggggac acaacagtaa
     4141 cgagaggaaa tacattatta cagcaacttg cgacgtacta atacctgtca gtgttggccc
     4201 ccgtaaggta tgtaaggcac ctgtgagtgc cagtgagtgc tggtgaaagg ccaacatgta
     4261 ctagttatgt aagtattggt gtctgcttta aaaaaggaga cccagacttc acctgtcctt
     4321 tttaaacatt tgagaacagt gttactctga gcagttgggc caccttcacc ttatccgaca
     4381 gctgactgtt ggatgtgtcc attgtcgcca gtttggctgt tgcccggaca ggacaggacc
     4441 tccattgggc gcagcagcag gtggcagggg tgtggcttga ggtgggtggc agcgtctggt
     4501 cctcctctct ggtgctttct gagagggtct ctaaagcaga gtgtggttgg cctgggggaa
     4561 ggcagagcac gtatttctcc cctctagtac ctctgcattt gtgagtgttc cctctggctt
     4621 tctgaagggc agcagactct tgagtatact gcagaggaca tgctttatca gtaggtcctg
     4681 agggctccag gggctcaact gaccaagtaa cacagaagtt ggggtatgtg gcctatttgg
     4741 gtcggaaact gcatgtttca gaaagtttgt ctctttttcc tactcattat ttgaagaaga
     4801 gagagcctgt ggggatagcc ttatcttggt ccacaggact gaagtgaagt cacttgggaa
     4861 ggggagacag aggatgagcg gcgtctgtgt agggaccccc ccccgggcct gcagaagggt
     4921 ggtgtgctcc caggactggc atgacaggtg tctcctcctc accacaggct gtgcccatga
     4981 gtccctgtgc agaccagtgg gcaaggcagc tgggccagat ctcaggccag ccgtttgtgc
     5041 tcctagcagg gttgctgtgc tggccacacg gagaggccct agagagcctc atggattgta
     5101 actaaagaag aaacggttcc tttttgtttt tttaaaaatg atttttaaat accgtttttt
     5161 acaccgttct ctcggtactt tttttaagct aagtcagcat tgtcttccag tgttaaaggc
     5221 atccctcacc tctgcattga acttacgtat ccatgccaag gaatggaatt tccatcctga
     5281 gccagttcag ttaggtgtca attgatacta ttttaatttt ttatgcaatc tgatgagatg
     5341 agctcagatt taaaaatctc aaaagcacgt ttattgtaac aagaattgtt atgtattaat
     5401 actgcagttt tcaataaaga ttgacttgtg ttgca
//
LOCUS       NM_001009994             570 bp    mRNA    linear   PRI 23-SEP-2023
DEFINITION  Homo sapiens ripply transcriptional repressor 2 (RIPPLY2),
            transcript variant 1, mRNA.
ACCESSION   NM_001009994
VERSION     NM_001009994.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 570)
  AUTHORS   Wegler M, Roth C, Schumann E, Kogan J, Totten E, Guillen Sacoto MJ,
            Abou Jamra R and Hornemann F.
  TITLE     Congenital cervical spine malformation due to bi-allelic RIPPLY2
            variants in spondylocostal dysostosis type 6
  JOURNAL   Clin Genet 99 (4), 565-571 (2021)
   PUBMED   33410135
  REMARK    GeneRIF: Congenital cervical spine malformation due to bi-allelic
            RIPPLY2 variants in spondylocostal dysostosis type 6.
REFERENCE   2  (bases 1 to 570)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 570)
  AUTHORS   Serey-Gaut M, Scala M, Reversade B, Ruaud L, Cabrol C, Musacchia F,
            Torella A, Accogli A, Escande-Beillard N, Langlais J, Piatelli G,
            Consales A, Nigro V, Capra V and Van Maldergem L.
  TITLE     Congenital posterior cervical spine malformation due to biallelic
            c.240-4T>G RIPPLY2 variant: A discrete entity
  JOURNAL   Am J Med Genet A 182 (6), 1466-1472 (2020)
   PUBMED   32212228
  REMARK    GeneRIF: Congenital posterior cervical spine malformation due to
            biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.
REFERENCE   4  (bases 1 to 570)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 570)
  AUTHORS   Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani
            SN, Akdemir ZC, Gambin T, Bayram Y, Atik MM, Erdin S, Muzny D, Gibbs
            RA and Lupski JR.
  CONSRTM   Baylor-Hopkins Center for Mendelian Genomics
  TITLE     Rare variants in the notch signaling pathway describe a novel type
            of autosomal recessive Klippel-Feil syndrome
  JOURNAL   Am J Med Genet A 167A (11), 2795-2799 (2015)
   PUBMED   26238661
REFERENCE   6  (bases 1 to 570)
  AUTHORS   McInerney-Leo AM, Sparrow DB, Harris JE, Gardiner BB, Marshall MS,
            O'Reilly VC, Shi H, Brown MA, Leo PJ, Zankl A, Dunwoodie SL and
            Duncan EL.
  TITLE     Compound heterozygous mutations in RIPPLY2 associated with vertebral
            segmentation defects
  JOURNAL   Hum Mol Genet 24 (5), 1234-1242 (2015)
   PUBMED   25343988
REFERENCE   7  (bases 1 to 570)
  AUTHORS   Chan T, Kondow A, Hosoya A, Hitachi K, Yukita A, Okabayashi K,
            Nakamura H, Ozawa H, Kiyonari H, Michiue T, Ito Y and Asashima M.
  TITLE     Ripply2 is essential for precise somite formation during mouse early
            development
  JOURNAL   FEBS Lett 581 (14), 2691-2696 (2007)
   PUBMED   17531978
  REMARK    GeneRIF: Functional analysis of the mouse Ripply2 ortholog.
REFERENCE   8  (bases 1 to 570)
  AUTHORS   Kawamura A, Koshida S, Hijikata H, Ohbayashi A, Kondoh H and Takada
            S.
  TITLE     Groucho-associated transcriptional repressor ripply1 is required for
            proper transition from the presomitic mesoderm to somites
  JOURNAL   Dev Cell 9 (6), 735-744 (2005)
   PUBMED   16326386
  REMARK    GeneRIF: Compares Ripply proteins in zebrafish, mouse, human, and
            amphioxus.
REFERENCE   9  (bases 1 to 570)
  AUTHORS   Turnpenny,P.D., Sloman,M. and Dunwoodie,S.
  TITLE     Spondylocostal Dysostosis, Autosomal Recessive
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301771
REFERENCE   10  (bases 1 to 570)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301533
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BE672047.1, AW511485.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2154665,
            SAMEA2158188 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369689.6/ ENSP00000358703.1
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139232.13.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 5, 2021 this sequence version replaced NM_001009994.2.
            Summary: This gene encodes a nuclear protein that belongs to a
            novel family of proteins required for vertebrate somitogenesis.
            Members of this family have a tetrapeptide WRPW motif that is
            required for interaction with the transcriptional repressor Groucho
            and a carboxy-terminal Ripply homology
            domain/Bowline-DSCR-Ledgerline conserved region required for
            transcriptional repression. Null mutant mice die soon after birth
            and display defects in axial skeleton segmentation due to defective
            somitogenesis. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Feb 2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..570
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.2"
     gene            1..570
                     /gene="RIPPLY2"
                     /gene_synonym="C6orf159; dJ237I15.1; SCDO6"
                     /note="ripply transcriptional repressor 2"
                     /db_xref="GeneID:134701"
                     /db_xref="HGNC:HGNC:21390"
                     /db_xref="MIM:609891"
     CDS             58..444
                     /gene="RIPPLY2"
                     /gene_synonym="C6orf159; dJ237I15.1; SCDO6"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein ripply2; ripply2 homolog"
                     /codon_start=1
                     /product="protein ripply2 isoform 1"
                     /protein_id="NP_001009994.1"
                     /db_xref="CCDS:CCDS34493.1"
                     /db_xref="GeneID:134701"
                     /db_xref="HGNC:HGNC:21390"
                     /db_xref="MIM:609891"
                     /translation="MENAGGAEGTESGAAACAATDGPTRRAGADSGYAGFWRPWVDAGG
                     KKEEETPNHAAEAMPDGPGMTAASGKLYQFRHPVRLFWPKSKCYDYLYQEAEALLKNFP
                     IQATISFYEDSDSEDEIEDLTCEN"
     misc_feature    58..246
                     /gene="RIPPLY2"
                     /gene_synonym="C6orf159; dJ237I15.1; SCDO6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TAB7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    166..177
                     /gene="RIPPLY2"
                     /gene_synonym="C6orf159; dJ237I15.1; SCDO6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TAB7.1);
                     Region: WRPW motif. /evidence=ECO:0000255"
     misc_feature    286..393
                     /gene="RIPPLY2"
                     /gene_synonym="C6orf159; dJ237I15.1; SCDO6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TAB7.1);
                     Region: Ripply homology domain. /evidence=ECO:0000255"
     regulatory      554..559
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RIPPLY2"
                     /gene_synonym="C6orf159; dJ237I15.1; SCDO6"
                     /note="hexamer: AATGAA"
     polyA_site      570
                     /gene="RIPPLY2"
                     /gene_synonym="C6orf159; dJ237I15.1; SCDO6"
                     /note="major polyA site"
ORIGIN
        1 aactggtcaa gattgcccgc gagctggcag cggccttccg cccagctctg cggcgtcatg
       61 gagaacgcgg gaggcgcaga gggtacagag agtggagctg cggcgtgcgc ggccaccgac
      121 ggccctacgc ggcgcgcggg cgcggactcc ggatacgcag gcttctggag accctgggtg
      181 gacgccggag gcaagaaaga agaggagacg ccgaaccacg ccgcggaggc gatgcccgat
      241 ggccctggaa tgaccgcagc ctcaggaaag ctttaccaat tcaggcaccc agtcagacta
      301 ttttggccaa aatcaaaatg ttatgattac ttatatcaag aagcagaagc tcttctgaaa
      361 aattttccaa ttcaagccac aatttcattt tatgaagatt ctgatagcga agatgaaatt
      421 gaggatctga cctgtgaaaa ttaatctgat tagctacttt tgattatatc caaagcttgt
      481 ggggtttaaa tttagtgtac aaatgtatca taattatttt aaactaattt atttgtatat
      541 aaattattaa taaaatgaaa tattttgtaa
//
LOCUS       NM_001009996            1748 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens DALR anticodon binding domain containing 3 (DALRD3),
            transcript variant 1, mRNA.
ACCESSION   NM_001009996
VERSION     NM_001009996.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1748)
  AUTHORS   Lentini JM, Alsaif HS, Faqeih E, Alkuraya FS and Fu D.
  TITLE     DALRD3 encodes a protein mutated in epileptic encephalopathy that
            targets arginine tRNAs for 3-methylcytosine modification
  JOURNAL   Nat Commun 11 (1), 2510 (2020)
   PUBMED   32427860
  REMARK    GeneRIF: DALRD3 encodes a protein mutated in epileptic
            encephalopathy that targets arginine tRNAs for 3-methylcytosine
            modification. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1748)
  AUTHORS   Di Leva G, Piovan C, Gasparini P, Ngankeu A, Taccioli C, Briskin D,
            Cheung DG, Bolon B, Anderlucci L, Alder H, Nuovo G, Li M, Iorio MV,
            Galasso M, Santhanam R, Marcucci G, Perrotti D, Powell KA, Bratasz
            A, Garofalo M, Nephew KP and Croce CM.
  TITLE     Estrogen mediated-activation of miR-191/425 cluster modulates
            tumorigenicity of breast cancer cells depending on estrogen receptor
            status
  JOURNAL   PLoS Genet 9 (3), e1003311 (2013)
   PUBMED   23505378
  REMARK    Erratum:[PLoS Genet. 2013 Apr;9(4).
            doi:10.1371/annotation/92dfa670-d431-4d68-b70b-706df1f93e46.
            Ramasamy, Santhanam [corrected to Santhanam, Ramasamy]]
REFERENCE   3  (bases 1 to 1748)
  AUTHORS   Grinchuk OV, Jenjaroenpun P, Orlov YL, Zhou J and Kuznetsov VA.
  TITLE     Integrative analysis of the human cis-antisense gene pairs, miRNAs
            and their transcription regulation patterns
  JOURNAL   Nucleic Acids Res 38 (2), 534-547 (2010)
   PUBMED   19906709
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC032440.1, SRR1660809.178581.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000341949.9/ ENSP00000344989.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB045082.1 and BC047683.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001009996.2.
            Summary: The exact function of this gene is not known. It encodes a
            protein with a DALR anticodon binding domain similar to that of
            class Ia aminoacyl tRNA synthetases. This gene is located in a
            cluster of genes (with a complex sense-anti-sense genome
            architecture) on chromosome 3, and contains two micro RNA (miRNA)
            precursors (mir-425 and mir-191) in one of its introns.
            Preferential expression of this gene (the miRNAs and other genes in
            the cluster) in testis suggests a role of this gene in
            spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1748
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1748
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /note="DALR anticodon binding domain containing 3"
                     /db_xref="GeneID:55152"
                     /db_xref="HGNC:HGNC:25536"
                     /db_xref="MIM:618904"
     CDS             17..1648
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /note="isoform 1 is encoded by transcript variant 1; DALR
                     anticodon-binding domain-containing protein 3"
                     /codon_start=1
                     /product="DALR anticodon-binding domain-containing protein
                     3 isoform 1"
                     /protein_id="NP_001009996.1"
                     /db_xref="CCDS:CCDS33754.1"
                     /db_xref="GeneID:55152"
                     /db_xref="HGNC:HGNC:25536"
                     /db_xref="MIM:618904"
                     /translation="MATRRLGVGETLGALNAALGPGGPVWIKETRTRHLRSRDFLAPHR
                     ALQARFDDGQVPEHLLHALACLQGPGVAPVLRCAPTPAGLSLQLQRSAVFERVLSAVAA
                     YATPASPASLGQRVLLHCPALRSSPCALRLSQLRTVLVADHLARALRAHGVCVRLVPAV
                     RDPHMLTFLQQLRVDWPAASERASSHTLRSHALEELTSANDGRTLSPGILGRLCLKELV
                     EEQGRTAGYDPNLDNCLVTEDLLSVLAELQEALWHWPEDSHPGLAGASDTGTGGCLVVH
                     VVSCEEEFQQQKLDLLWQKLVDKAPLRQKHLICGPVKVAGAPGTLMTAPEYYEFRHTQV
                     CKASALKHGGDLAQDPAWTEIFGVLSVATIKFEMLSTAPQSQLFLALADSSISTKGTKS
                     GTFVMYNCARLATLFESYKCSMEQGLYPTFPPVSSLDFSLLHDEGEWLLLFNSILPFPD
                     LLSRTAVLDCTAPGLHIAVRTEMICKFLVQLSMDFSSYYNRVHILGEPRPHLFGQMFVR
                     LQLLRAVREVLHTGLAMLGLPPLSHI"
     regulatory      1723..1728
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /note="hexamer: AATAAA"
     polyA_site      1748
                     /gene="DALRD3"
                     /gene_synonym="DEE86; EIEE86"
                     /note="major polyA site"
ORIGIN
        1 actccttccg gtcaccatgg cgaccaggcg ccttggggtc ggggagacgc tgggggccct
       61 caacgcggcc ctggggccag gcggtccggt gtggatcaag gagacgcgca cccgccacct
      121 gcgttcccga gactttctgg caccgcaccg cgcgctgcag gcgcgcttcg atgacggcca
      181 ggttccggag catttgctcc atgccctcgc ctgcctgcag ggccccggtg tggccccggt
      241 gctgcgctgc gcgccgaccc ccgcgggtct gtctctccaa ctgcagcggt ccgccgtctt
      301 cgagcgcgtc ctcagcgccg tggccgccta tgccacgccc gcctcgcctg cctcgctggg
      361 ccagcgcgtc ttactacact gcccagcact gcgcagctcc ccctgcgcac tccgcttgag
      421 ccagctgcgt acggtgctcg tggccgatca cctggcgcga gccctgcgcg ctcacggggt
      481 gtgcgtgcgc ctagtgccag ctgtgcggga tccgcacatg ctgaccttcc tgcagcaact
      541 gcgggtggac tggcccgctg cctcggagag agcttcctcc cacaccctga ggagccacgc
      601 ccttgaagaa cttacctctg ctaatgacgg gaggacactg tcccctggca tcctaggcag
      661 actgtgtctg aaggagctgg tggaagaaca gggccgcaca gctggctatg accccaacct
      721 ggacaactgt ctggtgactg aggatctcct ctctgtgctg gctgagctgc aagaggctct
      781 atggcattgg cccgaggaca gccacccagg cctggctggg gcctcagata ctggtacagg
      841 cggctgcctg gttgtacatg ttgttagctg tgaggaggag ttccagcaac agaagttgga
      901 cctgctttgg cagaagttgg ttgacaaggc tccactcaga cagaagcacc tcatctgtgg
      961 ccctgtgaaa gtagctggtg cacctggcac tctgatgact gcccctgagt actacgagtt
     1021 ccggcatacc caggtgtgca aggcctcagc actgaagcat ggtggggatc tggcacaaga
     1081 cccagcctgg acagagatct ttggtgttct ctctgtggcc accatcaagt ttgagatgct
     1141 gagcacagcc ccacagagtc agctcttcct ggctctggct gacagcagta tctccacgaa
     1201 gggcacaaag agtggcacct ttgtcatgta taattgtgcc cgtcttgcca cactctttga
     1261 gagttacaag tgtagtatgg aacaaggtct gtaccccact tttcctcctg tgagcagtct
     1321 ggacttctca ctgctacatg atgagggtga gtggttgttg ctcttcaaca gtatcctccc
     1381 ctttccggat ctgctgagcc ggacagcagt gctggactgc acagccccgg ggctccacat
     1441 tgctgtacgc acagagatga tatgcaagtt cctggtacag ctcagcatgg atttcagctc
     1501 ctactacaac cgggtacaca tcctggggga gcctcgacca cacctctttg gtcagatgtt
     1561 cgtccgcctg cagcttctga gagctgtgcg tgaggtgctc catactggcc tggctatgct
     1621 gggtctccct ccactgagcc acatttaagg ccacagaggc tccaatacct gggaatgttc
     1681 acaaagtcat caactggaaa aaaagcaaaa acccacggcc aaaataaatt ggtactgttt
     1741 gttacaaa
//
LOCUS       NM_001009997            1214 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens chromosome 10 open reading frame 62 (C10orf62), mRNA.
ACCESSION   NM_001009997
VERSION     NM_001009997.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1214)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1214)
  AUTHORS   Xin X, Rual JF, Hirozane-Kishikawa T, Hill DE, Vidal M, Boone C and
            Thierry-Mieg N.
  TITLE     Shifted Transversal Design smart-pooling for high coverage
            interactome mapping
  JOURNAL   Genome Res 19 (7), 1262-1269 (2009)
   PUBMED   19447967
REFERENCE   3  (bases 1 to 1214)
  AUTHORS   Venkatesan K, Rual JF, Vazquez A, Stelzl U, Lemmens I,
            Hirozane-Kishikawa T, Hao T, Zenkner M, Xin X, Goh KI, Yildirim MA,
            Simonis N, Heinzmann K, Gebreab F, Sahalie JM, Cevik S, Simon C, de
            Smet AS, Dann E, Smolyar A, Vinayagam A, Yu H, Szeto D, Borick H,
            Dricot A, Klitgord N, Murray RR, Lin C, Lalowski M, Timm J, Rau K,
            Boone C, Braun P, Cusick ME, Roth FP, Hill DE, Tavernier J, Wanker
            EE, Barabasi AL and Vidal M.
  TITLE     An empirical framework for binary interactome mapping
  JOURNAL   Nat Methods 6 (1), 83-90 (2009)
   PUBMED   19060904
REFERENCE   4  (bases 1 to 1214)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage
            AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G,
            Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T,
            Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S,
            Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T,
            Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N,
            Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall
            M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL,
            Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm
            L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: SRR5189667.197136.1, SRR5189667.261032.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000370640.5/ ENSP00000359674.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC043281.1 and BC037252.1.
            On May 17, 2019 this sequence version replaced NM_001009997.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1214
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     gene            1..1214
                     /gene="C10orf62"
                     /gene_synonym="bA548K23.1"
                     /note="chromosome 10 open reading frame 62"
                     /db_xref="GeneID:414157"
                     /db_xref="HGNC:HGNC:23294"
     CDS             178..849
                     /gene="C10orf62"
                     /gene_synonym="bA548K23.1"
                     /codon_start=1
                     /product="uncharacterized protein C10orf62"
                     /protein_id="NP_001009997.2"
                     /db_xref="CCDS:CCDS31261.1"
                     /db_xref="GeneID:414157"
                     /db_xref="HGNC:HGNC:23294"
                     /translation="MLWVQRKRRRKETSECPSDKDKSPESHKAKNESWIKSHFSRLSEE
                     KLALDNNASASGNATQTESGSEEVSSTVHIETFTTRHGEVGSALHRESFTSRQKTSGPS
                     VIQEIHQESGKAPSTDEATWAAVAACTKEIDTQGRHLAHSMLQRAIAYQHSGHLESKDI
                     NQEELRALEEVEMKLQKNFLTQRENTIAGANHTHTFYGHSHHSHHGHPSHQSHSLPNRR
                     H"
     misc_feature    178..288
                     /gene="C10orf62"
                     /gene_synonym="bA548K23.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T681.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    304..306
                     /gene="C10orf62"
                     /gene_synonym="bA548K23.1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6AYN3; propagated from
                     UniProtKB/Swiss-Prot (Q5T681.1); phosphorylation site"
     misc_feature    322..396
                     /gene="C10orf62"
                     /gene_synonym="bA548K23.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T681.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    763..846
                     /gene="C10orf62"
                     /gene_synonym="bA548K23.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T681.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1193..1198
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C10orf62"
                     /gene_synonym="bA548K23.1"
                     /note="hexamer: AATAAA"
     polyA_site      1214
                     /gene="C10orf62"
                     /gene_synonym="bA548K23.1"
                     /note="major polyA site"
ORIGIN
        1 agacatcctt ggggagcctg ccctttcaag catgaatcat accaccagag atcacccagc
       61 gtgctcttag ctctgcctgc ctggtgtagg gtcctggaga ccttcttgga gctcatccag
      121 cagccatcat gcaaggtggt gctggggact gccctcttgc taggaggtgg aggtctcatg
      181 ctgtgggttc agagaaagag gagaagaaag gaaacctctg agtgtccatc agacaaggac
      241 aagtcaccag aatcccataa agcaaagaat gaaagctgga ttaaatccca ctttagccgc
      301 ctttccgaag agaagctggc cctcgacaac aatgccagcg ctagtggcaa tgctacccag
      361 actgagagtg ggagtgaaga ggtcagctcc acggttcaca tagagacctt caccacgagg
      421 cacggagaag tgggctccgc tctgcaccgg gaatccttca ccagcaggca gaagacatct
      481 gggccctcag tgatccaaga gatccaccag gagtctggaa aagccccatc cactgatgag
      541 gccacgtggg ccgctgtggc tgcctgcacc aaggagattg acacccaggg gcggcacctg
      601 gctcactcca tgctgcagcg ggccatagct taccagcact caggtcacct agagtccaag
      661 gacatcaacc aggaggagct gagggccctc gaggaggtag agatgaagct gcaaaagaat
      721 ttcctcaccc agcgggaaaa caccatagct ggtgccaatc acacacacac cttctatggc
      781 cacagtcacc acagtcacca tggccaccca agccaccaga gccacagcct gcctaatcgc
      841 agacactaga tctgtgactt cttggaagcc acctaaccat ggatggagac gcccctgccc
      901 ccagcaaggc tggctcacac acacgtctgt tttctctcct atggggccat ctatgcaggc
      961 cagggtgaga tgctgtgccc aaatccctac tttcttaggc tcctcacggg gattatgggc
     1021 tctttaaact ccatgagtgg ggtctgccac agaagatggc ccctgttgga gggagagctg
     1081 ggaggacaca gcgcaggtga gatagaccct gaggcccctg aagacccacc aagagaagac
     1141 agatgggagc aggcaagagc cccacactga tgtcattgcc tggaacggag ccaataaagc
     1201 tttgtgtgcc ttca
//
LOCUS       NM_001009999            3085 bp    mRNA    linear   PRI 26-AUG-2023
DEFINITION  Homo sapiens lysine demethylase 1A (KDM1A), transcript variant 1,
            mRNA.
ACCESSION   NM_001009999
VERSION     NM_001009999.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3085)
  AUTHORS   Kumaraswamy A, Duan Z, Flores D, Zhang C, Sehrawat A, Hu YM, Swaim
            OA, Rodansky E, Storck WK, Kuleape JA, Bedi K, Mannan R, Wang XM,
            Udager A, Ravikumar V, Bankhead A 3rd, Coleman I, Lee JK, Morrissey
            C, Nelson PS, Chinnaiyan AM, Rao A, Xia Z, Yates JA and Alumkal JJ.
  TITLE     LSD1 promotes prostate cancer reprogramming by repressing TP53
            signaling independently of its demethylase function
  JOURNAL   JCI Insight 8 (15), e167440 (2023)
   PUBMED   37440313
  REMARK    GeneRIF: LSD1 promotes prostate cancer reprogramming by repressing
            TP53 signaling independently of its demethylase function.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3085)
  AUTHORS   Jiang Q, Stachelscheid J, Bloehdorn J, Pacholewska A, Aszyk C,
            Grotenhuijs F, Muller T, Onder O, Wagle P, Herling CD, Kleppe M,
            Wang Z, Coombes KR, Robrecht S, Dalvi PS, Plosnita B, Mayer P,
            Abruzzo LV, Altmuller J, Gathof B, Persigehl T, Fischer K, Jebaraj
            B, Rienhoff HY, Ecker R, Zhao Y, Bruns CJ, Stilgenbauer S,
            Elenitoba-Johnson K, Hallek M, Schweiger MR, Odenthal M, Vasyutina E
            and Herling M.
  TITLE     Oncogenic role and target properties of the lysine-specific
            demethylase KDM1A in chronic lymphocytic leukemia
  JOURNAL   Blood 142 (1), 44-61 (2023)
   PUBMED   37023372
  REMARK    GeneRIF: Oncogenic role and target properties of the lysine-specific
            demethylase KDM1A in chronic lymphocytic leukemia.
REFERENCE   3  (bases 1 to 3085)
  AUTHORS   Roganowicz M, Bar D, Bersaglieri C, Aprigliano R and Santoro R.
  TITLE     BAZ2A-RNA mediated association with TOP2A and KDM1A represses genes
            implicated in prostate cancer
  JOURNAL   Life Sci Alliance 6 (7), e202301950 (2023)
   PUBMED   37184661
  REMARK    GeneRIF: BAZ2A-RNA mediated association with TOP2A and KDM1A
            represses genes implicated in prostate cancer. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3085)
  AUTHORS   Yang FF, Xu XL, Hu T, Liu JQ, Zhou JZ, Ma LY and Liu HM.
  TITLE     Lysine-Specific Demethylase 1 Promises to Be a Novel Target in
            Cancer Drug Resistance: Therapeutic Implications
  JOURNAL   J Med Chem 66 (7), 4275-4293 (2023)
   PUBMED   37014989
  REMARK    GeneRIF: Lysine-Specific Demethylase 1 Promises to Be a Novel Target
            in Cancer Drug Resistance: Therapeutic Implications. Review article
REFERENCE   5  (bases 1 to 3085)
  AUTHORS   Lee DY, Salahuddin T and Iqbal J.
  TITLE     Lysine-Specific Demethylase 1 (LSD1)-Mediated Epigenetic
            Modification of Immunogenicity and Immunomodulatory Effects in
            Breast Cancers
  JOURNAL   Curr Oncol 30 (2), 2127-2143 (2023)
   PUBMED   36826125
  REMARK    GeneRIF: Lysine-Specific Demethylase 1 (LSD1)-Mediated Epigenetic
            Modification of Immunogenicity and Immunomodulatory Effects in
            Breast Cancers. Review article Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3085)
  AUTHORS   Lee MG, Wynder C, Cooch N and Shiekhattar R.
  TITLE     An essential role for CoREST in nucleosomal histone 3 lysine 4
            demethylation
  JOURNAL   Nature 437 (7057), 432-435 (2005)
   PUBMED   16079794
  REMARK    GeneRIF: nucleosomal demethylation is the result of CoREST enhancing
            the association between BHC110 and nucleosomes
REFERENCE   7  (bases 1 to 3085)
  AUTHORS   Forneris F, Binda C, Vanoni MA, Mattevi A and Battaglioli E.
  TITLE     Histone demethylation catalysed by LSD1 is a flavin-dependent
            oxidative process
  JOURNAL   FEBS Lett 579 (10), 2203-2207 (2005)
   PUBMED   15811342
  REMARK    GeneRIF: in vivo LSD1 might not necessarily function as an oxidase,
            but it might use alternative electron acceptors
REFERENCE   8  (bases 1 to 3085)
  AUTHORS   Shi Y, Lan F, Matson C, Mulligan P, Whetstine JR, Cole PA, Casero RA
            and Shi Y.
  TITLE     Histone demethylation mediated by the nuclear amine oxidase homolog
            LSD1
  JOURNAL   Cell 119 (7), 941-953 (2004)
   PUBMED   15620353
  REMARK    GeneRIF: results thus identify a histone demethylase conserved from
            S. pombe to human and reveal dynamic regulation of histone
            methylation by both histone methylases and demethylases
REFERENCE   9  (bases 1 to 3085)
  AUTHORS   Hakimi MA, Dong Y, Lane WS, Speicher DW and Shiekhattar R.
  TITLE     A candidate X-linked mental retardation gene is a component of a new
            family of histone deacetylase-containing complexes
  JOURNAL   J Biol Chem 278 (9), 7234-7239 (2003)
   PUBMED   12493763
REFERENCE   10  (bases 1 to 3085)
  AUTHORS   Hakimi MA, Bochar DA, Chenoweth J, Lane WS, Mandel G and Shiekhattar
            R.
  TITLE     A core-BRAF35 complex containing histone deacetylase mediates
            repression of neuronal-specific genes
  JOURNAL   Proc Natl Acad Sci U S A 99 (11), 7420-7425 (2002)
   PUBMED   12032298
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.236503.1,
            SRR1803612.147078.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000400181.9/ ENSP00000383042.5
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG717076.1, BC048134.1,
            BC040194.2 and BC025362.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001009999.2.
            Summary: This gene encodes a nuclear protein containing a SWIRM
            domain, a FAD-binding motif, and an amine oxidase domain. This
            protein is a component of several histone deacetylase complexes,
            though it silences genes by functioning as a histone demethylase.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Apr 2009].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3085
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     gene            1..3085
                     /gene="KDM1A"
                     /gene_synonym="AOF2; BHC110; CPRF; KDM1; LSD1"
                     /note="lysine demethylase 1A"
                     /db_xref="GeneID:23028"
                     /db_xref="HGNC:HGNC:29079"
                     /db_xref="MIM:609132"
     CDS             130..2760
                     /gene="KDM1A"
                     /gene_synonym="AOF2; BHC110; CPRF; KDM1; LSD1"
                     /EC_number="1.14.99.66"
                     /note="isoform a is encoded by transcript variant 1; amine
                     oxidase (flavin containing) domain 2; FAD-binding protein
                     BRAF35-HDAC complex, 110 kDa subunit; BRAF35-HDAC complex
                     protein BHC110; lysine-specific histone demethylase 1;
                     flavin-containing amine oxidase domain-containing protein
                     2; lysine (K)-specific demethylase 1A; [histone
                     H3]-dimethyl-L-lysine(4) FAD-dependent demethylase 1A"
                     /codon_start=1
                     /product="lysine-specific histone demethylase 1A isoform a"
                     /protein_id="NP_001009999.1"
                     /db_xref="CCDS:CCDS53278.1"
                     /db_xref="GeneID:23028"
                     /db_xref="HGNC:HGNC:29079"
                     /db_xref="MIM:609132"
                     /translation="MLSGKKAAAAAAAAAAAATGTEAGPGTAGGSENGSEVAAQPAGLS
                     GPAEVGPGAVGERTPRKKEPPRASPPGGLAEPPGSAGPQAGPTVVPGSATPMETGIAET
                     PEGRRTSRRKRAKVEYREMDESLANLSEDEYYSEEERNAKAEKEKKLPPPPPQAPPEEE
                     NESEPEEPSGQAGGLQDDSSGGYGDGQASGVEGAAFQSRLPHDRMTSQEAACFPDIISG
                     PQQTQKVFLFIRNRTLQLWLDNPKIQLTFEATLQQLEAPYNSDTVLVHRVHSYLERHGL
                     INFGIYKRIKPLPTKKTGKVIIIGSGVSGLAAARQLQSFGMDVTLLEARDRVGGRVATF
                     RKGNYVADLGAMVVTGLGGNPMAVVSKQVNMELAKIKQKCPLYEANGQADTVKVPKEKD
                     EMVEQEFNRLLEATSYLSHQLDFNVLNNKPVSLGQALEVVIQLQEKHVKDEQIEHWKKI
                     VKTQEELKELLNKMVNLKEKIKELHQQYKEASEVKPPRDITAEFLVKSKHRDLTALCKE
                     YDELAETQGKLEEKLQELEANPPSDVYLSSRDRQILDWHFANLEFANATPLSTLSLKHW
                     DQDDDFEFTGSHLTVRNGYSCVPVALAEGLDIKLNTAVRQVRYTASGCEVIAVNTRSTS
                     QTFIYKCDAVLCTLPLGVLKQQPPAVQFVPPLPEWKTSAVQRMGFGNLNKVVLCFDRVF
                     WDPSVNLFGHVGSTTASRGELFLFWNLYKAPILLALVAGEAAGIMENISDDVIVGRCLA
                     ILKGIFGSSAVPQPKETVVSRWRADPWARGSYSYVAAGSSGNDYDLMAQPITPGPSIPG
                     APQPIPRLFFAGEHTIRNYPATVHGALLSGLREAGRIADQFLGAMYTLPRQATPGVPAQ
                     QSPSM"
     regulatory      3064..3069
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KDM1A"
                     /gene_synonym="AOF2; BHC110; CPRF; KDM1; LSD1"
                     /note="hexamer: AATAAA"
     polyA_site      3085
                     /gene="KDM1A"
                     /gene_synonym="AOF2; BHC110; CPRF; KDM1; LSD1"
                     /note="major polyA site"
ORIGIN
        1 ggcgcgtgcg tacgcgacgg cggttggcgg cgcgcgggca gcgtgaagcg aggcgaggca
       61 aggcttttcg gacccacgga gcgacagagc gagcggcccc tacggccgtc ggcggcccgg
      121 cggcccgaga tgttatctgg gaagaaggcg gcagccgcgg cggcggcggc tgcagcggca
      181 gcaaccggga cggaggctgg ccctgggaca gcaggcggct ccgagaacgg gtctgaggtg
      241 gccgcgcagc ccgcgggcct gtcgggccca gccgaggtcg ggccgggggc ggtgggggag
      301 cgcacacccc gcaagaaaga gcctccgcgg gcctcgcccc ccgggggcct ggcggaaccg
      361 ccggggtccg cagggcctca ggccggccct actgtcgtgc ctgggtctgc gacccccatg
      421 gaaactggaa tagcagagac tccggagggg cgtcggacca gccggcgcaa gcgggcgaag
      481 gtagagtaca gagagatgga tgaaagcttg gccaacctct cagaagatga gtattattca
      541 gaagaagaga gaaatgccaa agcagagaag gaaaagaagc ttcccccacc accccctcaa
      601 gccccacctg aggaagaaaa tgaaagtgag cctgaagaac catcggggca agcaggagga
      661 cttcaagacg acagttctgg agggtatgga gacggccaag catcaggtgt ggagggcgca
      721 gctttccaga gccgacttcc tcatgaccgg atgacttctc aagaagcagc ctgttttcca
      781 gatattatca gtggaccaca acagacccag aaggtttttc ttttcattag aaaccgcaca
      841 ctgcagttgt ggttggataa tccaaagatt cagctgacat ttgaggctac tctccaacaa
      901 ttagaagcac cttataacag tgatactgtg cttgtccacc gagttcacag ttatttagag
      961 cgtcatggtc ttatcaactt cggcatctat aagaggataa aacccctacc aactaaaaag
     1021 acaggaaagg taattattat aggctctggg gtctcaggct tggcagcagc tcgacagtta
     1081 caaagttttg gaatggatgt cacacttttg gaagccaggg atcgtgtggg tggacgagtt
     1141 gccacatttc gcaaaggaaa ctatgtagct gatcttggag ccatggtggt aacaggtctt
     1201 ggagggaatc ctatggctgt ggtcagcaaa caagtaaata tggaactggc caagatcaag
     1261 caaaaatgcc cactttatga agccaacgga caagctgaca ctgtcaaggt tcctaaagag
     1321 aaagatgaaa tggtagagca agagtttaac cggttgctag aagctacatc ttaccttagt
     1381 catcaactag acttcaatgt cctcaataat aagcctgtgt cccttggcca ggcattggaa
     1441 gttgtcattc agttacaaga gaagcatgtc aaagatgagc agattgaaca ttggaagaag
     1501 atagtgaaaa ctcaggaaga attgaaagaa cttcttaata agatggtaaa tttgaaagag
     1561 aaaattaaag aactccatca gcaatacaaa gaagcatctg aagtaaagcc acccagagat
     1621 attactgccg agttcttagt gaaaagcaaa cacagggatc tgaccgccct atgcaaggaa
     1681 tatgatgaat tagctgaaac acaaggaaag ctagaagaaa aacttcagga gttggaagcg
     1741 aatcccccaa gtgatgtata tctctcatca agagacagac aaatacttga ttggcatttt
     1801 gcaaatcttg aatttgctaa tgccacacct ctctcaactc tctcccttaa gcactgggat
     1861 caggatgatg actttgagtt cactggcagc cacctgacag taaggaatgg ctactcgtgt
     1921 gtgcctgtgg ctttagcaga aggcctagac attaaactga atacagcagt gcgacaggtt
     1981 cgctacacgg cttcaggatg tgaagtgata gctgtgaata cccgctccac gagtcaaacc
     2041 tttatttata aatgcgacgc agttctctgt acccttcccc tgggtgtgct gaagcagcag
     2101 ccaccagccg ttcagtttgt gccacctctc cctgagtgga aaacatctgc agtccaaagg
     2161 atgggatttg gcaaccttaa caaggtggtg ttgtgttttg atcgggtgtt ctgggatcca
     2221 agtgtcaatt tgttcgggca tgttggcagt acgactgcca gcaggggtga gctcttcctc
     2281 ttctggaacc tctataaagc tccaatactg ttggcactag tggcaggaga agctgctggt
     2341 atcatggaaa acataagtga cgatgtgatt gttggccgat gcctggccat tctcaaaggg
     2401 atttttggta gcagtgcagt acctcagccc aaagaaactg tggtgtctcg ttggcgtgct
     2461 gatccctggg ctcggggctc ttattcctat gttgctgcag gatcatctgg aaatgactat
     2521 gatttaatgg ctcagccaat cactcctggc ccctcgattc caggtgcccc acagccgatt
     2581 ccacgactct tctttgcggg agaacatacg atccgtaact acccagccac agtgcatggt
     2641 gctctgctga gtgggctgcg agaagcggga agaattgcag accagttttt gggggccatg
     2701 tatacgctgc ctcgccaggc cacaccaggt gttcctgcac agcagtcccc aagcatgtga
     2761 gacagatgca ttctaaggga agaggcccat gtgcctgttt ctgccatgta aggaaggctc
     2821 ttctagcaat actagatccc actgagaaaa tccaccctgg catctgggct cctgatcagc
     2881 tgatggagct cctgatttga caaaggagct tgcctccttt gaatgaccta gagcacaggg
     2941 aggaacttgt ccattagttt ggaattgtgt tcttcgtaaa gactgaggca agcaagtgct
     3001 gtgaaataac atcatcttag tcccttggtg tgtggggttt ttgttttttt tttatatttt
     3061 gagaataaaa cttcatataa aattg
//
LOCUS       NM_001010               1369 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens ribosomal protein S6 (RPS6), mRNA.
ACCESSION   NM_001010
VERSION     NM_001010.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1369)
  AUTHORS   Zhou Y, Liu Y, Gupta S, Paramo MI, Hou Y, Mao C, Luo Y, Judd J,
            Wierbowski S, Bertolotti M, Nerkar M, Jehi L, Drayman N, Nicolaescu
            V, Gula H, Tay S, Randall G, Wang P, Lis JT, Feschotte C, Erzurum
            SC, Cheng F and Yu H.
  TITLE     A comprehensive SARS-CoV-2-human protein-protein interactome reveals
            COVID-19 pathobiology and potential host therapeutic targets
  JOURNAL   Nat Biotechnol 41 (1), 128-139 (2023)
   PUBMED   36217030
REFERENCE   2  (bases 1 to 1369)
  AUTHORS   Karg MM, John L, Refaian N, Buettner C, Rottmar T, Sommer J, Bock B,
            Resheq YJ, Ksander BR, Heindl LM, Mackensen A and Bosch JJ.
  TITLE     Midkine Promotes Metastasis and Therapeutic Resistance via mTOR/RPS6
            in Uveal Melanoma
  JOURNAL   Mol Cancer Res 20 (8), 1320-1336 (2022)
   PUBMED   35503453
  REMARK    GeneRIF: Midkine Promotes Metastasis and Therapeutic Resistance via
            mTOR/RPS6 in Uveal Melanoma.
REFERENCE   3  (bases 1 to 1369)
  AUTHORS   Nabeel-Shah S, Lee H, Ahmed N, Burke GL, Farhangmehr S, Ashraf K, Pu
            S, Braunschweig U, Zhong G, Wei H, Tang H, Yang J, Marcon E,
            Blencowe BJ, Zhang Z and Greenblatt JF.
  TITLE     SARS-CoV-2 nucleocapsid protein binds host mRNAs and attenuates
            stress granules to impair host stress response
  JOURNAL   iScience 25 (1), 103562 (2022)
   PUBMED   34901782
REFERENCE   4  (bases 1 to 1369)
  AUTHORS   Hodson N, Mazzulla M, Holowaty MNH, Kumbhare D and Moore DR.
  TITLE     RPS6 phosphorylation occurs to a greater extent in the periphery of
            human skeletal muscle fibers, near focal adhesions, after anabolic
            stimuli
  JOURNAL   Am J Physiol Cell Physiol 322 (1), C94-C110 (2022)
   PUBMED   34852208
  REMARK    GeneRIF: RPS6 phosphorylation occurs to a greater extent in the
            periphery of human skeletal muscle fibers, near focal adhesions,
            after anabolic stimuli.
REFERENCE   5  (bases 1 to 1369)
  AUTHORS   Bohlen J, Roiuk M and Teleman AA.
  TITLE     Phosphorylation of ribosomal protein S6 differentially affects mRNA
            translation based on ORF length
  JOURNAL   Nucleic Acids Res 49 (22), 13062-13074 (2021)
   PUBMED   34871442
  REMARK    GeneRIF: Phosphorylation of ribosomal protein S6 differentially
            affects mRNA translation based on ORF length.
REFERENCE   6  (bases 1 to 1369)
  AUTHORS   Pata I, Hoth S, Kruppa J and Metspalu A.
  TITLE     The human ribosomal protein S6 gene: isolation, primary structure
            and location in chromosome 9
  JOURNAL   Gene 121 (2), 387-392 (1992)
   PUBMED   1446836
  REMARK    Erratum:[Gene. 1993 May 30;127(2):275-6. PMID: 8500771]
REFERENCE   7  (bases 1 to 1369)
  AUTHORS   Antoine M and Fried M.
  TITLE     The organization of the intron-containing human S6 ribosomal protein
            (rpS6) gene and determination of its location at chromosome 9p21
  JOURNAL   Hum Mol Genet 1 (8), 565-570 (1992)
   PUBMED   1301164
REFERENCE   8  (bases 1 to 1369)
  AUTHORS   Penner CG, Murphy LC, Huzel NJ and Yamada EW.
  TITLE     Antigenic reactivity of ribosomal protein S6 and the calcium-binding
            ATPase inhibitor protein of mammalian mitochondria
  JOURNAL   Mol Cell Biochem 108 (1), 57-66 (1991)
   PUBMED   1837589
REFERENCE   9  (bases 1 to 1369)
  AUTHORS   Pogue-Geile K, Geiser JR, Shu M, Miller C, Wool IG, Meisler AI and
            Pipas JM.
  TITLE     Ribosomal protein genes are overexpressed in colorectal cancer:
            isolation of a cDNA clone encoding the human S3 ribosomal protein
  JOURNAL   Mol Cell Biol 11 (8), 3842-3849 (1991)
   PUBMED   1712897
REFERENCE   10  (bases 1 to 1369)
  AUTHORS   Kaerlein,M. and Horak,I.
  TITLE     Identification and characterization of ribosomal proteins
            phosphorylated in vaccinia-virus-infected HeLa cells
  JOURNAL   Eur J Biochem 90 (3), 463-469 (1978)
   PUBMED   710442
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.41015.1, AK291517.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380394.9/ ENSP00000369757.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AL391834.8.
            On May 17, 2019 this sequence version replaced NM_001010.2.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a cytoplasmic
            ribosomal protein that is a component of the 40S subunit. The
            protein belongs to the S6E family of ribosomal proteins. It is the
            major substrate of protein kinases in the ribosome, with subsets of
            five C-terminal serine residues phosphorylated by different protein
            kinases. Phosphorylation is induced by a wide range of stimuli,
            including growth factors, tumor-promoting agents, and mitogens.
            Dephosphorylation occurs at growth arrest. The protein may
            contribute to the control of cell growth and proliferation through
            the selective translation of particular classes of mRNA. As is
            typical for genes encoding ribosomal proteins, there are multiple
            processed pseudogenes of this gene dispersed through the genome.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1369
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p22.1"
     gene            1..1369
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
                     /note="ribosomal protein S6"
                     /db_xref="GeneID:6194"
                     /db_xref="HGNC:HGNC:10429"
                     /db_xref="MIM:180460"
     misc_feature    1
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="minor transcription initiation site"
     CDS             42..791
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
                     /note="40S ribosomal protein S6; phosphoprotein NP33"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS6"
                     /protein_id="NP_001001.2"
                     /db_xref="CCDS:CCDS6492.1"
                     /db_xref="GeneID:6194"
                     /db_xref="HGNC:HGNC:10429"
                     /db_xref="MIM:180460"
                     /translation="MKLNISFPATGCQKLIEVDDERKLRTFYEKRMATEVAADALGEEW
                     KGYVVRISGGNDKQGFPMKQGVLTHGRVRLLLSKGHSCYRPRRTGERKRKSVRGCIVDA
                     NLSVLNLVIVKKGEKDIPGLTDTTVPRRLGPKRASRIRKLFNLSKEDDVRQYVVRKPLN
                     KEGKKPRTKAPKIQRLVTPRVLQHKRRRIALKKQRTKKNKEEAAEYAKLLAKRMKEAKE
                     KRQEQIAKRRRLSSLRASTSKSESSQK"
     misc_feature    450..452
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
                     /note="(3R)-3-hydroxyarginine.
                     /evidence=ECO:0000269|PubMed:29563586; propagated from
                     UniProtKB/Swiss-Prot (P62753.1); hydroxylation site"
     misc_feature    483..485
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P62753.1); phosphorylation site"
     misc_feature    672..674
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62753.1); acetylation site"
     misc_feature    690..788
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
                     /note="propagated from UniProtKB/Swiss-Prot (P62753.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    744..746
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
                     /note="phosphorylation site"
     misc_feature    747..749
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
                     /note="phosphorylation site"
     misc_feature    759..761
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
                     /note="phosphorylation site"
     misc_feature    765..767
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P62753.1); phosphorylation site"
     misc_feature    771..773
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
                     /note="phosphorylation site"
     misc_feature    780..782
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
                     /note="phosphorylation site"
     regulatory      808..813
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
                     /note="hexamer: AATAAA"
     polyA_site      829
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
                     /note="major polyA site"
     regulatory      1147..1152
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
                     /note="hexamer: AATACA"
     polyA_site      1171
                     /gene="RPS6"
                     /gene_synonym="eS6; S6"
ORIGIN
        1 ctcttttccg tggcgcctcg gaggcgttca gctgcttcaa gatgaagctg aacatctcct
       61 tcccagccac tggctgccag aaactcattg aagtggacga tgaacgcaaa cttcgtactt
      121 tctatgagaa gcgtatggcc acagaagttg ctgctgacgc tctgggtgaa gaatggaagg
      181 gttatgtggt ccgaatcagt ggtgggaacg acaaacaagg tttccccatg aagcagggtg
      241 tcttgaccca tggccgtgtc cgcctgctac tgagtaaggg gcattcctgt tacagaccaa
      301 ggagaactgg agaaagaaag agaaaatcag ttcgtggttg cattgtggat gcaaatctga
      361 gcgttctcaa cttggttatt gtaaaaaaag gagagaagga tattcctgga ctgactgata
      421 ctacagtgcc tcgccgcctg ggccccaaaa gagctagcag aatccgcaaa cttttcaatc
      481 tctctaaaga agatgatgtc cgccagtatg ttgtaagaaa gcccttaaat aaagaaggta
      541 agaaacctag gaccaaagca cccaagattc agcgtcttgt tactccacgt gtcctgcagc
      601 acaaacggcg gcgtattgct ctgaagaagc agcgtaccaa gaaaaataaa gaagaggctg
      661 cagaatatgc taaacttttg gccaagagaa tgaaggaggc taaggagaag cgccaggaac
      721 aaattgcgaa gagacgcaga ctttcctctc tgcgagcttc tacttctaag tctgaatcca
      781 gtcagaaata agattttttg agtaacaaat aaataagatc agactctgat ctctgttgac
      841 ttttcattgc tgatagaaaa ctacataaat gaagagaggg aaagttaggt catagaaaat
      901 ggggatatgt atatatggta ttccaatggt ggataaagtc agacctattg tgtgtggtag
      961 tggaagacaa ggtcagtgta caggggttcc tttcagggga tgggtggcac aggaagggat
     1021 tctgagcata agacacctgc ctcttcagaa tggcatggaa cttaggggaa atgatgagga
     1081 ctattaatct tttttatata gtttattttt gaggaatata gctctttaaa gcactataca
     1141 caatttaata catgaaaatt gaccttgtga agatgaacat gtctttttta aaaggtaact
     1201 tttaaggcat agttttagtg gatacctagt tttagtggat accatccact aaatggtttt
     1261 taagccattt caaatttgtt ttaacaaagc ttttcaactc cagtgaattg ttaggctgtt
     1321 cacacactga aaaggaaatg actaaaaaca ttcttggatc agtgaaaaa
//
LOCUS       NM_001010844            5577 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens interleukin 1 receptor associated kinase 1 binding
            protein 1 (IRAK1BP1), mRNA.
ACCESSION   NM_001010844
VERSION     NM_001010844.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5577)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 5577)
  AUTHORS   He,J., Kelly,T.N., Zhao,Q., Li,H., Huang,J., Wang,L., Jaquish,C.E.,
            Sung,Y.J., Shimmin,L.C., Lu,F., Mu,J., Hu,D., Ji,X., Shen,C.,
            Guo,D., Ma,J., Wang,R., Shen,J., Li,S., Chen,J., Mei,H., Chen,C.S.,
            Chen,S., Chen,J., Li,J., Cao,J., Lu,X., Wu,X., Rice,T.K., Gu,C.C.,
            Schwander,K., Hamm,L.L., Liu,D., Rao,D.C., Hixson,J.E. and Gu,D.
  TITLE     Genome-wide association study identifies 8 novel loci associated
            with blood pressure responses to interventions in Han Chinese
  JOURNAL   Circ Cardiovasc Genet 6 (6), 598-607 (2013)
   PUBMED   24165912
REFERENCE   3  (bases 1 to 5577)
  AUTHORS   Luo Y, Kwon HJ, Montano S, Georgiadis M, Goebl MG and Harrington MA.
  TITLE     Phosphorylation of SIMPL modulates RelA-associated
            NF-kappaB-dependent transcription
  JOURNAL   Am J Physiol Cell Physiol 292 (3), C1013-C1023 (2007)
   PUBMED   17079333
  REMARK    GeneRIF: Together, these studies reveal that phosphorylation of the
            SIMPL protein plays a critical role in SIMPL regulation by affecting
            both SIMPL subcellular localization and the p65 coactivator function
            of SIMPL.
REFERENCE   4  (bases 1 to 5577)
  AUTHORS   Kwon HJ, Breese EH, Vig-Varga E, Luo Y, Lee Y, Goebl MG and
            Harrington MA.
  TITLE     Tumor necrosis factor alpha induction of NF-kappaB requires the
            novel coactivator SIMPL
  JOURNAL   Mol Cell Biol 24 (21), 9317-9326 (2004)
   PUBMED   15485901
REFERENCE   5  (bases 1 to 5577)
  AUTHORS   Vig E, Green M, Liu Y, Yu KY, Kwon HJ, Tian J, Goebl MG and
            Harrington MA.
  TITLE     SIMPL is a tumor necrosis factor-specific regulator of nuclear
            factor-kappaB activity
  JOURNAL   J Biol Chem 276 (11), 7859-7866 (2001)
   PUBMED   11096118
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.685659.1, BU195215.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369940.7/ ENSP00000358956.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL450327.12, BC112253.1 and CB321683.1.
            On Nov 22, 2018 this sequence version replaced NM_001010844.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5577
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.1"
     gene            1..5577
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="interleukin 1 receptor associated kinase 1 binding
                     protein 1"
                     /db_xref="GeneID:134728"
                     /db_xref="HGNC:HGNC:17368"
                     /db_xref="MIM:615375"
     CDS             27..809
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="ActA binding protein 3; IRAK1-binding protein 1"
                     /codon_start=1
                     /product="interleukin-1 receptor-associated kinase
                     1-binding protein 1"
                     /protein_id="NP_001010844.1"
                     /db_xref="CCDS:CCDS34488.1"
                     /db_xref="GeneID:134728"
                     /db_xref="HGNC:HGNC:17368"
                     /db_xref="MIM:615375"
                     /translation="MSLQKTPPTRVFVELVPWADRSRENNLASGRETLPGLRHPLSSTQ
                     AQTATREVQVSGTSEVSAGPDRAQVVVRVSSTKEAAAEAKKSVCRRLDYITQSLQQQGV
                     QAENITVTKDFRRVENAYHMEAEVCITFTEFGKMQNICNFLVEKLDSSVVISPPQFYHT
                     PGSVENLRRQACLVAVENAWRKAQEVCNLVGQTLGKPLLIKEEETKEWEGQIDDHQSSR
                     LSSSLTVQQKIKSATIHAASKVFITFEVKGKEKRKKHL"
     misc_feature    114..176
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VVH5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    192..194
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ESJ7; propagated from
                     UniProtKB/Swiss-Prot (Q5VVH5.1); phosphorylation site"
     misc_feature    210..212
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ESJ7; propagated from
                     UniProtKB/Swiss-Prot (Q5VVH5.1); phosphorylation site"
     misc_feature    729..731
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ESJ7; propagated from
                     UniProtKB/Swiss-Prot (Q5VVH5.1); phosphorylation site"
     misc_feature    735..737
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9ESJ7; propagated from
                     UniProtKB/Swiss-Prot (Q5VVH5.1); phosphorylation site"
     misc_feature    744..806
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VVH5.1);
                     Region: Required for nuclear localization (NLS).
                     /evidence=ECO:0000250"
     misc_feature    750..752
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ESJ7; propagated from
                     UniProtKB/Swiss-Prot (Q5VVH5.1); phosphorylation site"
     misc_feature    765..767
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9ESJ7; propagated from
                     UniProtKB/Swiss-Prot (Q5VVH5.1); phosphorylation site"
     regulatory      1037..1042
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="hexamer: AATAAA"
     polyA_site      1061
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="major polyA site"
     regulatory      3420..3425
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="hexamer: AATAAA"
     polyA_site      3441
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="major polyA site"
     regulatory      5419..5424
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="hexamer: AATAAA"
     polyA_site      5441
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="major polyA site"
     regulatory      5559..5564
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
                     /note="hexamer: AACAAA"
     polyA_site      5577
                     /gene="IRAK1BP1"
                     /gene_synonym="AIP70; SIMPL"
ORIGIN
        1 actatggaaa cccagctgcc atcgctatgt ctctgcaaaa gacccctccg acccgagtgt
       61 tcgtggaact ggttccctgg gctgaccgga gccgggagaa caacctggcc tcagggagag
      121 agacgctacc gggcttacgc caccccctct cctcaacaca agcccaaact gctacccgcg
      181 aggtgcaagt aagcggcacc tcagaagtgt ctgcgggccc tgaccgggcg caggtggtgg
      241 tgcgagtgag cagcaccaag gaggcggcag ccgaggccaa aaagagcgtt tgtcgccgtc
      301 tagattacat cacgcagagc ctccagcagc agggcgtgca ggcagaaaat ataactgtga
      361 caaaggattt taggagagtg gaaaatgctt atcacatgga agcagaggtc tgcattacat
      421 ttactgaatt tggaaaaatg caaaatattt gtaactttct tgttgaaaag ctagatagct
      481 ctgttgtcat cagcccaccc cagttctatc atactccagg ttctgttgag aatcttcgac
      541 ggcaagcctg tcttgttgct gttgagaatg cgtggcgcaa agctcaagaa gtctgtaacc
      601 ttgttggcca aaccttagga aaacctttac taatcaaaga agaagaaaca aaagaatggg
      661 aaggccaaat agatgatcac cagtcatcca gactctcaag ttcattaact gtacaacaaa
      721 aaatcaaaag tgcaacaata catgctgctt caaaagtatt tataactttt gaggtaaagg
      781 gaaaagagaa gagaaaaaag cacctttgaa attccaaaca aattatattg tacttgtatc
      841 tttttaccta tttttatact ttttataatg tttacgtttg tcctgaatat atatatatat
      901 atatatatat atatatatat ggtataggag ataagctatt tctttccaaa atctataaat
      961 ctttgaatat agtcccacag aatacttatg ttcactttct atttttaaaa gactactctg
     1021 aaaaacactc ttggataata aatgtattat gtgcatactt atatactgac agttcataca
     1081 agcacatgtg taatatttct attataagga cagatattga cccttgcatt tcataatttt
     1141 taaagatatt taagctaaaa ttttctcagc cacattttta tataaaacca aattttatgt
     1201 aaaaactagg cttcaataag ttagctaaat tttttaaatt gtaagacaaa atttttatgg
     1261 aaaagaattc ctatatccca tcaaacctaa taattttcca caactaaaaa tgagtataaa
     1321 tacataattt taagtgcatc ctgtcaggtc tgatatttaa ttttacttta gttagaagct
     1381 aagtagttac cctgttactt cttcatggat gctaacagaa gacttgagat tcccagacag
     1441 aaacaaagga ctattactca tggcacaaca aggagcatga gcatcagcac attctcattg
     1501 cttccccttg tcccaggtcc catgggggca aaatgatatg gccatatgca atatggctac
     1561 atatacagca ggcttttgtt gtaggtaaag aatactgagc ttggagggtt cactgctttt
     1621 tatccatgaa cagaagcaaa cctgctcttt gcctcatccc ttatagatgc tcactcaaaa
     1681 ctcaatactg agaaatggcc caggtaaaga acagccaagg tctttcatgc ttgccacacc
     1741 cagcaatatg tttaggaagg tgaagtctac tgagggctat ctcacatcta acagtttctt
     1801 tactaggacc agagaccatt ttggtaagat gcagataaca accccaacct taacaacttc
     1861 acaacatgaa tagaaatagt gataaataat tcatagcttt ttacaaaaga ataatgaggt
     1921 ataataggaa aatgttttga tgccaaaaat aaaagagtta atgtttggat cggactccaa
     1981 cagggctcct tagagtgata caaatacaaa gcaaacgata tgtgtaattt aaaatttcct
     2041 agtgcacatg tttttttatt tttctttttc gagatggagt ctttctctgt cgcccaagct
     2101 ggagtgcagt ggtacgatct cagctcactg caacctctgc ctcctgaatt taagcgattc
     2161 tcctgcctca gcctcccaag tagctgggat tacaggcgtg agccactgca tctggccctg
     2221 tacgcacatt tttaaaaata aaactttaaa aaagaaacag ttgaaactaa ttttaataac
     2281 attttattta accaaatata tcaaaaatat tatttcagca tgtaatcagt attttttaaa
     2341 ttgagatatt tgttttatct tcaaaattca gtgtatattt ttacataata gcacatctca
     2401 attcacatgc taaattttca tcagaaatat tttatctgta tttaaatttc ctaaaatgta
     2461 cagttgaaaa aaagagattc acatacccag gttgttctag catgcctaaa aaatcttgta
     2521 actggatcaa gtatcagttt ttaaattagt taaaattaaa taaaatttaa aatttagttc
     2581 ctcagtcaca ctagccatat ttcaagtact tgaaggccac aaatggcttg agactacctt
     2641 gctgaacaga ccaaggtcaa acactgagat aataatgatt cttaaggcca tttgaaagtt
     2701 aacagcaagt atgtattact gctatctaca gtaagaatta cattttatct acaggcaatc
     2761 ataagccatg tctgttatgc agcataggct ttccattctc tatacatcta ggtcatagag
     2821 tttttccatt gataaatctg gatgtttata taccaacagt actttcttac aacatattcc
     2881 agtatatagt gtccagcttc acccactttt taaagtggcc ctgaaacaat tttattcatc
     2941 ttattggagt gttgctgtag gggaagagta gaagctaaga agagtttgag ttcaacacca
     3001 ttatatccaa atcctgacct tactactgga atgtaagctc cttgaaagtg gagatcttgt
     3061 ctgtcttgtt cacagttgtg ttcccagccc cagaggtagt ctcagggcca atatcaagta
     3121 tgctctcaaa tatttgctgg gaaaatttac tagctggata aaaggcaagt tactttaatc
     3181 tctttaatct tcctttgtcc ttacaaatga aagagactaa tagtacttaa ccttgcagtg
     3241 ttattataag gattaaagtt gataaatata tgatcatgag aacaattgct agcacataac
     3301 ggtcactctg aaaatagtag ctgatatatc agctgcattg tttgattatt gttggctcaa
     3361 ttaaaagttg gcttttccaa atcctccatt aggaagaatt tttaaatagc catattgaaa
     3421 ataaagttgt cagaaaacca atgtaacata tgttgaattt ttattaccaa aaagaagtta
     3481 ctatccagtt gtacagaaaa gtagaatgag gttgtgcatc aagaaaaaaa ttgttcgttc
     3541 tcaacaaaaa tttaatcaca tgggtagttt tttttttttt agctatgggt tcatgctgta
     3601 tttggttgca tcatatttga taaagaagct tccaacttag catgaaatac ctaaagacaa
     3661 tttttttttt aagttagtag gcacttttta gaatttccag gaacttttaa agatgttgtc
     3721 tccaaaaaaa acaaaaaaat cctgtaaagt atacaatcct acatttttct atagaagagc
     3781 ttagggaaga aatcattcaa agattggaaa gacttatgtg tagtattctg tatactaaag
     3841 ggtatcaaat ttagttgtca gttgatagca atttaatttc ttgatacatg gcatacactg
     3901 gaatcttatg atgaattatt taggggacct gtgccacaaa gtctactaga ataaacctat
     3961 cctaaactta atcctgttag aatttccttc ttttgaactc tgtttaaaaa aaaaaaaatc
     4021 tttccagaaa gtaggaagtt ataatttcta ttttctgaaa gacaaacaaa aattctaaat
     4081 aggatatttg aaacagaccc actgtatcct aaatggaagt gctattaaaa ggaaatgcta
     4141 ttaaaataag atttcatata ttactgataa ttcataatga attttaggat tccattcaat
     4201 tacatactaa aaattacatt ttttatagtg gcaatgtact tttatcagta ttcttatttg
     4261 acggtcaatt tgagttcagt gtaaacaaat aggacttaga aaaataattt gtaactcaag
     4321 atgctgtacc tcatcctata attgttgttt tgtaatattc cttctcagga atatgggcta
     4381 aggatatctc aactctgtca gatttgttga taagaattta atagtaagga gttcttatag
     4441 cctataaaaa gcatgaatta tgagatcaaa tgtgggagtt actatatgat tatctgcatt
     4501 acaaaatgaa agcaaatgct ttatttattc caacaaaaaa agacctatat aaattagttt
     4561 aagctaacat ttagacattt actattacat atatggtatt tgcaaccaaa tcactgagtt
     4621 tgttgttgtc gttgtttgag gctgttgctc tgtcacccag gatggagtgc aagtagctca
     4681 atcatagctt actgcagcct aaaaactcct gggctgaaga aatcctctca cctcagcctt
     4741 ttaagtagct gaaacattag gtgcacacca ccaggcctgg ctaatttttt attagtgata
     4801 aggtcttgct atgttgccca ggctggtctc aaactcctgg cttcaagcag tcctgcctca
     4861 gcttcccaga gtgctggact acaggcttga gccactgcac ccagccccaa atagcttcta
     4921 ctcataacct agtgtggcct aaatttattt aaaatgcccg ggtaggccag gcacgttggc
     4981 tcacgcctgt aatcccagca cttgggaggc cgaggtaggc agatcacttg aggtcaggag
     5041 ttcgagacca acctggccaa tatattgaaa ccctgtctct tctaaaaata cagaagttac
     5101 tcaggcgtgg tggcgtgtga ctgtaatctc agctaccggg gaggctgaag cagaagaaac
     5161 gctcgaacct gggaggcaga gcttacagtg agccgagatc gcaccactgc acttcagcct
     5221 gggtgacaaa gtgagactcc atctacatac atacatacat acatacatac atacatacat
     5281 acatacatac atacataaaa tgcccagtat cttacaagac tgtagttcac agtgggtaat
     5341 tcaaatcaga cactgctctt caagagaggt aatattaata gaaatctttc aagaaggatt
     5401 gttttctact attaaaacaa taaaactctt ataaacctgt ttatcagaag gatatttctg
     5461 tttcagcaac tcctggaatc cttcttcaac atcccaacca acaattactc ccagatagcc
     5521 atgtcacctg tgaattatca tgaatcccac atcaaatgaa caaatactgc ctctgga
//
LOCUS       NM_001010846            6542 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens Src homology 2 domain containing E (SHE), transcript
            variant 1, mRNA.
ACCESSION   NM_001010846
VERSION     NM_001010846.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6542)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 6542)
  AUTHORS   Kauwe JS, Bailey MH, Ridge PG, Perry R, Wadsworth ME, Hoyt KL,
            Staley LA, Karch CM, Harari O, Cruchaga C, Ainscough BJ, Bales K,
            Pickering EH, Bertelsen S, Fagan AM, Holtzman DM, Morris JC and
            Goate AM.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Genome-wide association study of CSF levels of 59 alzheimer's
            disease candidate proteins: significant associations with proteins
            involved in amyloid processing and inflammation
  JOURNAL   PLoS Genet 10 (10), e1004758 (2014)
   PUBMED   25340798
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6542)
  AUTHORS   Leung KK, Hause RJ Jr, Barkinge JL, Ciaccio MF, Chuu CP and Jones
            RB.
  TITLE     Enhanced prediction of Src homology 2 (SH2) domain binding
            potentials using a fluorescence polarization-derived c-Met, c-Kit,
            ErbB, and androgen receptor interactome
  JOURNAL   Mol Cell Proteomics 13 (7), 1705-1723 (2014)
   PUBMED   24728074
REFERENCE   4  (bases 1 to 6542)
  AUTHORS   Jikuya H, Takano J, Kikuno R, Hirosawa M, Nagase T, Nomura N and
            Ohara O.
  TITLE     Characterization of long cDNA clones from human adult spleen. II.
            The complete sequences of 81 cDNA clones
  JOURNAL   DNA Res 10 (1), 49-57 (2003)
   PUBMED   12693554
REFERENCE   5  (bases 1 to 6542)
  AUTHORS   Oda T, Kujovich J, Reis M, Newman B and Druker BJ.
  TITLE     Identification and characterization of two novel SH2
            domain-containing proteins from a yeast two hybrid screen with the
            ABL tyrosine kinase
  JOURNAL   Oncogene 15 (11), 1255-1262 (1997)
   PUBMED   9315092
  REMARK    GeneRIF: Reports data for mouse She and not human.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK074067.1, SRR1660809.113045.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000304760.3/ ENSP00000307369.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL162591.16, BC117210.1 and AI797276.1.
            On Nov 22, 2018 this sequence version replaced NM_001010846.2.
            Transcript Variant: This variant (1) encodes the supported protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6542
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..6542
                     /gene="SHE"
                     /note="Src homology 2 domain containing E"
                     /db_xref="GeneID:126669"
                     /db_xref="HGNC:HGNC:27004"
                     /db_xref="MIM:610482"
     misc_feature    285..287
                     /gene="SHE"
                     /note="upstream in-frame stop codon"
     CDS             387..1874
                     /gene="SHE"
                     /codon_start=1
                     /product="SH2 domain-containing adapter protein E"
                     /protein_id="NP_001010846.1"
                     /db_xref="CCDS:CCDS30877.1"
                     /db_xref="GeneID:126669"
                     /db_xref="HGNC:HGNC:27004"
                     /db_xref="MIM:610482"
                     /translation="MQWSPTPGASACLGWASSLACSTAPTLLGRAGRGPLMAAKWFKEF
                     PLNLKTVSERAKPGGGGGKLRKNSEAGGAGPGPGKGRKNSAAELGSGRAGVGPKDSRLS
                     RDSLQGLIQAAAGKGRKNSRATEEEPHRGATKSSGCSTYINRLIKVDTQEKNGKSNYPS
                     SSSSSSSSSSSASSSPSSLGPELDKGKIIKQQETVIILEDYADPYDAKRTKGQRDAERV
                     GENDGYMEPYDAQQMITEIRRRGSKDPLVKALQLLDSPCEPADGGLKSETLAKRRSSKD
                     LLGKPPQLYDTPYEPAEGGPRAEGKARPPDSRLPENDERPAAEYEQPWEWKKEQIVRAL
                     SVQFEGAERPSFREETVRQHHRQKSWTQKILKPALSDHSEGEKVDPGLPLEKQPWYHGA
                     ISRAEAESRLQPCKEAGYLVRNSESGNSRYSIALKTSQGCVHIIVAQTKDNKYTLNQTS
                     AVFDSIPEVVHYYSNEKLPFKGAEHMTLLYPVHSKLH"
     misc_feature    537..956
                     /gene="SHE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VZ18.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    705..707
                     /gene="SHE"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BSD5; propagated from
                     UniProtKB/Swiss-Prot (Q5VZ18.1); phosphorylation site"
     misc_feature    993..1085
                     /gene="SHE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VZ18.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1152..1367
                     /gene="SHE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VZ18.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      6521..6526
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHE"
                     /note="hexamer: AATAAA"
     polyA_site      6542
                     /gene="SHE"
                     /note="major polyA site"
ORIGIN
        1 gtctgtcgct gcgccgggga tactcccgcc gcctccgctc ggtcctctct ggtccctggg
       61 agcgtgggct gggccgcagg gggcttccgt gggcctggcc tctcccaccg caggaggaaa
      121 gagcaggggg aagcccccgg cgcccgccgc ctccgagagc cacggtgtcc tcgggccggg
      181 caggcgttga agacgagccc gggcggggcc ccccgcgcgt cgtgcctgtc gcctgccgtg
      241 tccggagcag aggctagcgc ccgcccgctc ggcgccccga gccgtgagaa ccccaccctg
      301 ccgggcgtgg gcgacggccg gccgggggcg cacggagcag ccgtcgcggg gcctcgccgc
      361 ggcctccagc gccccagtca cggggaatgc agtggtcccc gacccctggc gcctctgcgt
      421 gtctgggctg ggcttcctcg ctcgcctgct ccacggcccc gacgctcctg ggccgagccg
      481 gccggggccc cctcatggcg gccaagtggt tcaaggagtt ccccctgaac ctgaagaccg
      541 tgtcggagcg ggccaagccc gggggcggcg gcggcaaatt gcgcaagaac tcggaggcgg
      601 gcggcgctgg gccgggtcct ggcaagggcc gcaagaactc ggcggccgag ctggggagcg
      661 gcagggccgg cgtcggcccc aaggacagcc ggctgtcccg cgacagcctg cagggtctga
      721 ttcaggccgc cgcgggcaag ggccgcaaaa actcccgggc cacggaggag gagccccacc
      781 ggggtgcaac caagagctcg ggctgcagca cctacatcaa caggctcatc aaggtggaca
      841 ctcaggagaa gaacgggaag agcaactacc ccagcagcag tagctccagc tccagctcct
      901 cttcctccgc gtcctcttcc ccttcctccc tggggcccga gctggacaag ggcaagatta
      961 ttaagcagca agagacggtc atcattttag aagactatgc tgacccttat gatgccaaac
     1021 ggacaaaggg tcaaagggat gcagagagag tcggagagaa cgacggttac atggaaccat
     1081 atgatgcaca gcaaatgata acagaaatta gacgacgggg ttccaaagat cccctggtga
     1141 aggctctcca gctgcttgac agtccctgtg aacccgcaga cggtggcctg aaatcagaga
     1201 ccttggccaa aagacggagt tccaaggacc tcctggggaa gccgccacag ctatacgaca
     1261 ctccctacga gcctgcagaa ggggggccca gggcagaggg gaaggcgcgg cccccagaca
     1321 gccggctgcc cgagaacgac gagaggcccg cggcagagta cgagcagcca tgggagtgga
     1381 agaaggagca gatcgtgcgg gctctgtcag tccagtttga aggagctgag cgaccttcct
     1441 tcagggagga gacagtgagg cagcaccacc ggcagaagag ctggacccag aagatcctga
     1501 agccagccct ctcggaccac agtgagggag agaaagtgga cccgggcctg cccctggaga
     1561 agcagccctg gtatcatggt gccatcagcc gtgctgaggc tgagagtcga ctacagccct
     1621 gcaaagaagc tggttacctg gttcgaaata gtgagtcagg gaacagcagg tactccattg
     1681 ccctaaagac tagtcaagga tgtgtccaca tcatagtggc tcagaccaaa gacaacaaat
     1741 acacactgaa tcagacaagc gctgtgtttg acagcatccc tgaagtggta cactattatt
     1801 ccaatgaaaa gttgcctttc aaaggggcag aacacatgac tttactctac ccagtgcaca
     1861 gcaagcttca ctaagattca gccactgcaa gccctgggcc tctggcacct tcaagggcat
     1921 catcagcgca caaccagcat ctcagaggac aaggctggac tagcaactgc tagaaaatgg
     1981 gagtcttcct tgaaaagtca gagagtgatt tgttttgttt tgtttgagac gaagtctcgc
     2041 tgtgttgccc aggctggagt gcaatggcgc aatcttggct cactgcaaca tctgactcct
     2101 gggttcaagc agttcttccc catcagcctc ccaagtaggt gggactatag gttcgcacca
     2161 ccactcccag ctaatttttt tttttgtatt tttagtagag atggggtttc gccgtcttcg
     2221 tcaggctggt ctcaaactcc tgacctcaaa tgatccaccc acctcagtct ccccgagtgc
     2281 ctggattaca ggcatgagcc actgcacccg gccaagtctt tggtcttaaa gtgattccat
     2341 gacactttgt ttgtggcctg tcccttgttt ccttgctaag tagttctaca ataagaaatc
     2401 atgatttagc tgttgcctcc agctctgggg tagggtgttc tttttatggt gtgaccctca
     2461 ggaaggttaa gtcaggagtt caggagcatc agagttctct agaaatgtgc ctacttgtta
     2521 cctggaatac ctggtctcta aacaaaccaa caaaaaatcc acgtggcttt tccacatgat
     2581 ggtgcagact ggaagaggat gttatattgg actcgttatt ggggaaatga atgagcggga
     2641 gaaaatgtga atgacgggca agaaggtggt ctttctccct cagaagtcct aattcagctc
     2701 tggagttcat ggaaatccgc aacttcagag tgtggcctaa ggattatttt gttggtcagc
     2761 ctttccaaga aagtgtgtgt tctctcaatc tctgtggatt ttctcatttt ttagcaaatc
     2821 agtgagataa gcataaatag gaaggaagat accccaggtt taagaatcac caatatcatt
     2881 aggcattggc atcattatta gaattctgaa ttatagaata aaaggtacaa caaaaatttc
     2941 atttctgaat tttaaaattc tggaaatttg caaagctcca caactgtttt tttactgaat
     3001 taattacata gaacttcgat gtcttttgtt tcatcatcat tgggcatttt agttgctatg
     3061 gaataatttt taatttttgt ctctaaaatt agatttgctt tgtagtaaat tttttaaaaa
     3121 tgcaacccta agatctgatt atatgaactg ggtctctaaa gcctacaaag attctctcgt
     3181 tctgtaccaa gcagactgcc ttgtactata cagaagtgtt tgaaaagacc tagaggtttt
     3241 ctcttaaata ccattactta agattcatag tattaggatc tttatgattt atcatgagct
     3301 tatatcacca gtttatttac tgtgaaaaaa accatgggaa tggcatactg tgagaagagt
     3361 actatggtga atggctccag aattaaaatt cagcagatgt gtctgtattc tggggttggt
     3421 catttgggtc tcaaaactgc cccatatgca aatgtactga ctgtcatcaa tgaaaagtta
     3481 acctttgtag cttataaata cacacaaaat gttgatttgg ttaatttttt aggaaagtat
     3541 acctttgtag ttactagtta catttgactg taagatttag aggttagtaa atttttgctt
     3601 ctttattcag ataagatctc agccaaaagg ttgtgtgatc tttgatttta aaaatttaag
     3661 aggaactttt cctcactgga acacaatgat tttattaata aagaatgtag gctgggtgcg
     3721 gtggctcatg cacgtaatcc caacaatttg ggaggctgag gcaggcagat cacgtgaggt
     3781 caggagtttg agaccagcct ggccaacatg gtgaaaccct gtctgtagta aaaatacaaa
     3841 aattagctgg gcacggtggc gggcacctgt agttccagct gcttgggagg ctgaggcacg
     3901 agaatcactt gagcccagga ggtggaggtt gcagtgagcc aagattatgt cactgcactc
     3961 catcctgggt gacaagagcg aaactccatc tcaaaaaaaa aaaaaaaaaa aagcctggcc
     4021 tggtggtgga tgcctgtggt tccagctatt cgggaggctg aggtaggtgg atcacctctg
     4081 ctcaggtcaa ggctgcagcg agccatgatc gcaccattgc actccagcct gagtgacaga
     4141 gtgagaccct gtctcaacaa gcaagcaaac aaaaaaccaa aaggaatgtt tttttcagat
     4201 actgatagaa tgttttcagt gtgtattggt tcatttacta tatctttagt gtaagatttt
     4261 aaaaggtttt ttcagcatcc attcaacaaa tatttattat ctttatacaa attattcatt
     4321 gtgttaaact tatttttagt ttaacattct agaaatgaaa cgtttttact taaccttatt
     4381 ctacaaaggg aatacagcag ttattctaat tttaataaat gctaaaagct ttatacaatt
     4441 tttctttgtg cactaaatga tttttggccc atacccagca actgtgatga atgtataatg
     4501 aaataacatc ttgaaaacag gccagataca ttaagtattt attgagcttc tgtcatatgc
     4561 ccagtattat gcttcttcta tactgtttct ctgtgacaag tcatactata ttctttatag
     4621 aattaaaagt agaggagagg cagagtttac atattgtcca gttgctttac agttgtacag
     4681 gaggttataa gaagaaatat agtaaattag tgggaagtca gaggtggggg cgttagtgag
     4741 ctattttctt cttgaggttg tgacacaagc tgacaaaagc cagggagttc acagctgtgt
     4801 ggtggcacaa agttccatat gttctaaaaa caattaggcc cagcagggtg tccctaatgg
     4861 cttccttgtt aaacctccat ggccagctga tctgaagctc tgtgacatgt tctctgagct
     4921 ctgaatgctc tggctttttg tcattttgtc ttgagacaag tattttcctg tagtcctcat
     4981 tccttcgagt tattccatct cccaggatat tctctggtga gaagaatgtc tttcagtgaa
     5041 tttgccttga atttagcatc catagagctg tgtcagtgtt cttcttgatc acaccttctt
     5101 taaaaaaaat acttgcttgc gatgactgga caagttcagt tggttagttt caggcctata
     5161 agaagagaga gtaaaggacc ttgctattta ctttgatacc atagttgtat ctcaggatgg
     5221 cctgcaaacc actggccttg tgtgtattta agctaggaat aaaataatgg agaagtgtta
     5281 atatgtatac aaaaaggtaa atattgatat atctactctc tgttgggggc agaagtgtca
     5341 ttttaagtta ttcaaagcac tttcttaagc attttagaaa gcctttattc tttgctgttg
     5401 gaagtctccg tactttgcag aattggtatt tgtgtactag cctctgccgc aggatgggga
     5461 ggtgggcagg tagctgatag gggcagccag gagtttttga ggcaggtggt gggaaattgt
     5521 cctaatttgt taattggatt atgtaactct gttactagtc tgttattggc tgttgttact
     5581 ggatgcatct tgatattcag aagaataact gtgaggcatt cttcagttgc gggttaagtg
     5641 gggttagttt ctgttctgtc agatgccctt tttcagtcaa aggttagccc cttgtttctc
     5701 cctccttcca gggtttaggg agtgcagtga tgtcgatttc atttcccttc cccgcacccc
     5761 ttgacactca gcaggattgc actgaaaccc ttcacagatc tctcgttcac tagttgtctc
     5821 ctatttttcc ataactagca ctagtttggc cttatgacct ggttagaatc actcttctgt
     5881 attctcattt ccaatttttg tgccccacta acgtggacta gagaaacttg gcctgctgtg
     5941 cagtgggcct tctgttcaac ttaccctcca ccgctgaccc tgtgtgaaga gagatggtgc
     6001 gttactgcca tctaatggga aaagagaaaa ctgcagttgg gaaaagcagc tgtgcattta
     6061 agggtagggc tttctgaagg atttctgata cagtccagaa aagggaaaat gatgacacag
     6121 cagttgccat cttgaaaaat gccctttcct gcggaaaggg tgttttgaag tctaatacaa
     6181 ctatcatcac aaggtccctg gactaaggct ggatcgtgta atttagaatc tcaaattgta
     6241 ttttaattaa tatgctggca acagaatcat tgaaacaggc gtctcatttt gtcaagttct
     6301 tagccgttca gtttgtcagg ggctttaata ttttagatat caactaatac atagtttcaa
     6361 cttttaaaaa tgtttgaaga ttgtatgtaa tataggtgtc tatctatagt gccttagtaa
     6421 tttaaatcag aaatatttta taaaacttct ggttgttttg cagtagccaa tataggcttc
     6481 atgccctcct gaagatagtt tcctctgaaa tgtaacttta aataaacatt attccaagaa
     6541 aa
//
LOCUS       NM_001010847            2168 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens leucine rich repeat containing 38 (LRRC38), mRNA.
ACCESSION   NM_001010847
VERSION     NM_001010847.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2168)
  AUTHORS   Li Q, Fan F, Kwak HR and Yan J.
  TITLE     Molecular basis for differential modulation of BK channel
            voltage-dependent gating by auxiliary gamma subunits
  JOURNAL   J Gen Physiol 145 (6), 543-554 (2015)
   PUBMED   26009545
  REMARK    GeneRIF: Suggest that BK channel modulation by auxiliary gamma
            subunits depends on intra- and/or juxta-membrane mechanisms.
REFERENCE   2  (bases 1 to 2168)
  AUTHORS   Yan J and Aldrich RW.
  TITLE     BK potassium channel modulation by leucine-rich repeat-containing
            proteins
  JOURNAL   Proc Natl Acad Sci U S A 109 (20), 7917-7922 (2012)
   PUBMED   22547800
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.615171.1, BC016048.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000376085.4/ ENSP00000365253.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL354712.19, BC016048.1 and AC243961.3.
            On Nov 22, 2018 this sequence version replaced NM_001010847.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2168
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..2168
                     /gene="LRRC38"
                     /note="leucine rich repeat containing 38"
                     /db_xref="GeneID:126755"
                     /db_xref="HGNC:HGNC:27005"
                     /db_xref="MIM:615212"
     misc_feature    147..149
                     /gene="LRRC38"
                     /note="upstream in-frame stop codon"
     CDS             411..1295
                     /gene="LRRC38"
                     /note="leucine-rich repeat-containing protein 38; BK
                     channel auxilliary gamma subunit LRRC38; BK channel
                     auxiliary gamma subunit LRRC38"
                     /codon_start=1
                     /product="leucine-rich repeat-containing protein 38
                     precursor"
                     /protein_id="NP_001010847.1"
                     /db_xref="CCDS:CCDS53269.1"
                     /db_xref="GeneID:126755"
                     /db_xref="HGNC:HGNC:27005"
                     /db_xref="MIM:615212"
                     /translation="MRPRAPACAAAALGLCSLLLLLAPGHACPAGCACTDPHTVDCRDR
                     GLPSVPDPFPLDVRKLLVAGNRIQRIPEDFFIFYGDLVYLDFRNNSLRSLEEGTFSGSA
                     KLVFLDLSYNNLTQLGAGAFRSAGRLVKLSLANNNLVGVHEDAFETLESLQVLELNDNN
                     LRSLSVAALAALPALRSLRLDGNPWLCDCDFAHLFSWIQENASKLPKGLDEIQCSLPME
                     SRRISLRELSEASFSECRFSLSLTDLCIIIFSGVAVSIAAIISSFFLATVVQCLQRCAP
                     NKDAEDEDEDKDD"
     sig_peptide     411..491
                     /gene="LRRC38"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    579..644
                     /gene="LRRC38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VT99.1);
                     Region: LRR 1"
     misc_feature    651..716
                     /gene="LRRC38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VT99.1);
                     Region: LRR 2"
     misc_feature    723..788
                     /gene="LRRC38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VT99.1);
                     Region: LRR 3"
     misc_feature    795..860
                     /gene="LRRC38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VT99.1);
                     Region: LRR 4"
     misc_feature    867..932
                     /gene="LRRC38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VT99.1);
                     Region: LRR 5"
     misc_feature    1158..1220
                     /gene="LRRC38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VT99.1);
                     transmembrane region"
     regulatory      2143..2148
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC38"
                     /note="hexamer: AATAAA"
     polyA_site      2168
                     /gene="LRRC38"
                     /note="major polyA site"
ORIGIN
        1 agacgtcgag tgcagcccgc ccggtgcgcg cggcgtctta ctgccagatc tcggaaatca
       61 gctgccaggg tggggccgcg ttttggcgac ggccactcgg ccacccctgc cgctcccgcc
      121 tctcccaaga gatttttcta gcgggttaat ttcctgtccg ggtaaaccct ttggtgagtc
      181 cctcgcccct ccctccccgc ccctcccctc tccatccctg ctgtcccggc tccccagtcc
      241 gtccgcgccg cgctccatcg cccccgcacg cccgggcgca cgccctcccc gcccgggccg
      301 ccctctggct ccccgcgccc ggcagccagt gcctcaccgc gccgtcccgc gccagggctc
      361 gctccgagag ccgcttcctt ctcgccgcgg ccggcgcggg ccccccggcc atgcgccccc
      421 gagccccagc ctgcgccgcc gcggcgctcg ggctctgcag ccttctgctg ctgctcgcgc
      481 ccgggcacgc gtgccccgcg ggctgcgcct gcaccgaccc gcacaccgtg gactgccgcg
      541 accgcgggct gcccagcgtg ccagaccctt tccccctgga cgtgcgcaag ctgctggtgg
      601 ccggcaaccg catccagcgg atccccgagg acttcttcat cttctacggc gacctggtct
      661 acctggactt caggaacaac tcgctgcgct cgctggagga gggcacgttc agcggctcgg
      721 ccaagctcgt gttcctcgac ctcagctaca acaacttgac ccagctgggc gccggcgcct
      781 tccgctcggc cgggaggctg gtgaagctta gcctggctaa caacaacctg gtgggcgtgc
      841 acgaggacgc cttcgagacc ctggagtcgc tgcaggtgct ggagctcaac gacaacaacc
      901 tgcgcagcct cagcgtggcc gccctggccg cgctgcccgc gctgcgctcc ctgcgtctgg
      961 acgggaaccc ctggctgtgc gactgtgact tcgcccacct cttctcctgg atccaggaga
     1021 acgcatccaa actgcccaaa ggccttgatg aaatccagtg ctccctgccc atggagagca
     1081 ggaggatatc cctgcgtgag ctgtcggagg ccagcttcag cgagtgtagg ttcagcctgt
     1141 cactcacaga cctctgcatc atcattttct ccggtgtggc cgtgtccatt gcggccatca
     1201 tctccagctt cttcctggcc actgtggtgc agtgcctcca gaggtgcgca cccaacaaag
     1261 atgcggagga tgaagacgag gacaaggatg actgagccac ctcctccctc ctgcctctta
     1321 ctctccagca ccgaaccaga agctctctcc aagacgagag ggaaatgctg aaaatggaaa
     1381 agcactggcc accatctgtg aactgaacag agcctgttcc gtgtcttggc ccctgggtac
     1441 acctgctggg accactgatc tcagagttta gaatcagcag agcacagaag cccaggaagg
     1501 atggagggaa ttattcctgg agcataacct gcctctcaga tcgaggtgtg tgttggggga
     1561 gaagatgacc gagtcaggct tcatagctga tgactaaaag cctcccccag gaaatgtgaa
     1621 gactggcagc tttcaatggc aaagatgatt ttacgccatt ctttttctga cctgtactgg
     1681 gagatcatga aacatctgcc ttcctcccaa gaaacagcag ctcaaacagt ggagattcaa
     1741 attcggatca ttcaccacaa gaacgagaac tttgatcctt atataatagg cctcagcaac
     1801 cttgggatgt tatactggga actaataaac tcgtgtgcaa tagactcaat gtttatgttc
     1861 ccccagattt tatatgttga aacctaatcc ccaatgtgat ggtatttgga ggtggggctt
     1921 ttgggaggtg attaggttta gatcatatca tgaggatggg gcccaaatga tgggattagt
     1981 gccctcatga aaggtggccc cagagagctc cttcacccct tcaatgcttg aggatgcagc
     2041 aagaaatcag ctgcccatga accgagaagc aggccctcac cagaacccag ccatgctggc
     2101 acccagatct cagacttcca gcctccagaa ctgggagaaa taaataaatg tctgttgttt
     2161 gtaagcca
//
LOCUS       NM_001010848            3811 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.
ACCESSION   NM_001010848
VERSION     NM_001010848.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3811)
  AUTHORS   Ahmad T, Vullhorst D, Chaudhuri R, Guardia CM, Chaudhary N,
            Karavanova I, Bonifacino JS and Buonanno A.
  TITLE     Transcytosis and trans-synaptic retention by postsynaptic ErbB4
            underlie axonal accumulation of NRG3
  JOURNAL   J Cell Biol 221 (7) (2022)
   PUBMED   35579602
  REMARK    GeneRIF: Transcytosis and trans-synaptic retention by postsynaptic
            ErbB4 underlie axonal accumulation of NRG3.
REFERENCE   2  (bases 1 to 3811)
  AUTHORS   Kara HG, Erdal ME, Yilmaz SG, Sengul C, Sengul CB and Karakulah K.
  TITLE     Association of NRG3 and ERBB4 gene polymorphism with nicotine
            dependence in Turkish population
  JOURNAL   Mol Biol Rep 48 (6), 5319-5326 (2021)
   PUBMED   34247340
  REMARK    GeneRIF: Association of NRG3 and ERBB4 gene polymorphism with
            nicotine dependence in Turkish population.
REFERENCE   3  (bases 1 to 3811)
  AUTHORS   Zhou Y, Li Y, Meng Y, Wang J, Wu F, Ning Y, Li Y, Cassidy RM, Li Z
            and Zhang XY.
  TITLE     Neuregulin 3 rs10748842 polymorphism contributes to the effect of
            body mass index on cognitive impairment in patients with
            schizophrenia
  JOURNAL   Transl Psychiatry 10 (1), 62 (2020)
   PUBMED   32066712
  REMARK    GeneRIF: Neuregulin 3 rs10748842 polymorphism contributes to the
            effect of body mass index on cognitive impairment in patients with
            schizophrenia. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3811)
  AUTHORS   Li Z, Liu L, Lin W, Zhou Y, Zhang G, Du X, Li Y, Tang W and Zhang X.
  TITLE     NRG3 contributes to cognitive deficits in chronic patients with
            schizophrenia
  JOURNAL   Schizophr Res 215, 134-139 (2020)
   PUBMED   31753594
  REMARK    GeneRIF: NRG3 contributes to cognitive deficits in chronic patients
            with schizophrenia.
REFERENCE   5  (bases 1 to 3811)
  AUTHORS   Pinto R, Assis J, Nogueira A, Pereira C, Coelho S, Brandao M, Dias
            J, Alves S, Pereira D and Medeiros R.
  TITLE     Pharmacogenomics in epithelial ovarian cancer first-line treatment
            outcome: validation of GWAS-associated NRG3 rs1649942 and BRE
            rs7572644 variants in an independent cohort
  JOURNAL   Pharmacogenomics J 19 (1), 25-32 (2019)
   PUBMED   30287910
  REMARK    GeneRIF: The BRE rs7572644 and NRG3 rs1649942 genetic variants were
            validated in an independent cohort of EOC Portuguese patients.
REFERENCE   6  (bases 1 to 3811)
  AUTHORS   Benzel I, Bansal A, Browning BL, Galwey NW, Maycox PR, McGinnis R,
            Smart D, St Clair D, Yates P and Purvis I.
  TITLE     Interactions among genes in the ErbB-Neuregulin signalling network
            are associated with increased susceptibility to schizophrenia
  JOURNAL   Behav Brain Funct 3, 31 (2007)
   PUBMED   17598910
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator) Publication Status:
            Online-Only
REFERENCE   7  (bases 1 to 3811)
  AUTHORS   Carteron C, Ferrer-Montiel A and Cabedo H.
  TITLE     Characterization of a neural-specific splicing form of the human
            neuregulin 3 gene involved in oligodendrocyte survival
  JOURNAL   J Cell Sci 119 (Pt 5), 898-909 (2006)
   PUBMED   16478787
  REMARK    GeneRIF: The NRG3 protein is a new post-translationally regulated
            isoform of neuregulin 3 expressed in the developing human central
            nervous system with a role in oligodendrocyte survival.
REFERENCE   8  (bases 1 to 3811)
  AUTHORS   Hobbs SS, Coffing SL, Le AT, Cameron EM, Williams EE, Andrew M,
            Blommel EN, Hammer RP, Chang H and Riese DJ 2nd.
  TITLE     Neuregulin isoforms exhibit distinct patterns of ErbB family
            receptor activation
  JOURNAL   Oncogene 21 (55), 8442-8452 (2002)
   PUBMED   12466964
REFERENCE   9  (bases 1 to 3811)
  AUTHORS   Gizatullin RZ, Muravenko OV, Al-Amin AN, Wang F, Protopopov AI,
            Kashuba VI, Zelenin AV and Zabarovsky ER.
  TITLE     Human NRG3 gene Map position 10q22-q23
  JOURNAL   Chromosome Res 8 (6), 560 (2000)
   PUBMED   11032326
REFERENCE   10  (bases 1 to 3811)
  AUTHORS   Zhang D, Sliwkowski MX, Mark M, Frantz G, Akita R, Sun Y, Hillan K,
            Crowley C, Brush J and Godowski PJ.
  TITLE     Neuregulin-3 (NRG3): a novel neural tissue-enriched protein that
            binds and activates ErbB4
  JOURNAL   Proc Natl Acad Sci U S A 94 (18), 9562-9567 (1997)
   PUBMED   9275162
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.171656.1, DQ001411.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000372141.7/ ENSP00000361214.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL096706.10, BC136811.1,
            DQ001411.1 and AL589782.7.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001010848.3.
            Summary: This gene is a member of the neuregulin gene family. This
            gene family encodes ligands for the transmembrane tyrosine kinase
            receptors ERBB3 and ERBB4 - members of the epidermal growth factor
            receptor family. Ligand binding activates intracellular signaling
            cascades and the induction of cellular responses including
            proliferation, migration, differentiation, and survival or
            apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been
            shown to activate the tyrosine phosphorylation of its cognate
            receptor, ERBB4, and is thought to influence neuroblast
            proliferation, migration and differentiation by signalling through
            ERBB4. NRG3 also promotes mammary differentiation during
            embryogenesis. Linkage studies have implicated this gene as a
            susceptibility locus for schizophrenia and schizoaffective
            disorder. Alternative splicing results in multiple transcript
            variants encoding distinct isoforms. Additional transcript variants
            have been described but their biological validity has not been
            verified.[provided by RefSeq, Sep 2009].
            Transcript Variant: This variant (1) encodes isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3811
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.1"
     gene            1..3811
                     /gene="NRG3"
                     /gene_synonym="HRG3; pro-NRG3"
                     /note="neuregulin 3"
                     /db_xref="GeneID:10718"
                     /db_xref="HGNC:HGNC:7999"
                     /db_xref="MIM:605533"
     misc_feature    130..132
                     /gene="NRG3"
                     /gene_synonym="HRG3; pro-NRG3"
                     /note="upstream in-frame stop codon"
     CDS             148..2238
                     /gene="NRG3"
                     /gene_synonym="HRG3; pro-NRG3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     neuregulin-3-like polypeptide"
                     /codon_start=1
                     /product="pro-neuregulin-3, membrane-bound isoform isoform
                     1"
                     /protein_id="NP_001010848.2"
                     /db_xref="CCDS:CCDS31233.1"
                     /db_xref="GeneID:10718"
                     /db_xref="HGNC:HGNC:7999"
                     /db_xref="MIM:605533"
                     /translation="MSEGAAAASPPGAASAAAASAEEGTAAAAAAAAAGGGPDGGGEGA
                     AEPPRELRCSDCIVWNRQQTWLCVVPLFIGFIGLGLSLMLLKWIVVGSVKEYVPTDLVD
                     SKGMGQDPFFLSKPSSFPKAMETTTTTTSTTSPATPSAGGAASSRTPNRISTRLTTITR
                     APTRFPGHRVPIRASPRSTTARNTAAPATVPSTTAPFFSSSTLGSRPPVPGTPSTQAMP
                     SWPTAAYATSSYLHDSTPSWTLSPFQDAASSSSSSSSSATTTTPETSTSPKFHTTTYST
                     ERSEHFKPCRDKDLAYCLNDGECFVIETLTGSHKHCRCKEGYQGVRCDQFLPKTDSILS
                     DPTDHLGIEFMESEEVYQRQVLSISCIIFGIVIVGMFCAAFYFKSKKQAKQIQEQLKVP
                     QNGKSYSLKASSTMAKSENLVKSHVQLQNYSKVERHPVTALEKMMESSFVGPQSFPEVP
                     SPDRGSQSVKHHRSLSSCCSPGQRSGMLHRNAFRRTPPSPRSRLGGIVGPAYQQLEESR
                     IPDQDTIPCQGYSSSGLKTQRNTSINMQLPSRETNPYFNSLEQKDLVGYSSTRASSVPI
                     IPSVGLEETCLQMPGISEVKSIKWCKNSYSADVVNVSIPVSDCLIAEQQEVKILLETVQ
                     EQIRILTDARRSEDYELASVETEDSASENTAFLPLSPTAKSEREAQFVLRNEIQRDSAL
                     TK"
     regulatory      3618..3623
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NRG3"
                     /gene_synonym="HRG3; pro-NRG3"
                     /note="hexamer: AATAAA"
     polyA_site      3657
                     /gene="NRG3"
                     /gene_synonym="HRG3; pro-NRG3"
                     /note="major polyA site"
     regulatory      3785..3790
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NRG3"
                     /gene_synonym="HRG3; pro-NRG3"
                     /note="hexamer: AATAAA"
     polyA_site      3811
                     /gene="NRG3"
                     /gene_synonym="HRG3; pro-NRG3"
                     /note="major polyA site"
ORIGIN
        1 ggatttgcat gcggccgccg cggccgctgc ctgcgcccga gcccgccgcc gccgccggag
       61 cccgcgcccg cgcccgcgcc cggcccgcgc ggccccatgc ctctgccgcg gccctcgggg
      121 gggcgaaggt gaagaccggc tcctaggatg agtgaagggg cggccgctgc ctcgccacct
      181 ggtgccgctt cggcagccgc cgcctcggcc gaggagggca ccgcggcggc tgcggcggcg
      241 gcagcggcgg gcgggggccc ggacggcggc ggcgaagggg cggccgagcc cccccgggag
      301 ttacgctgta gcgactgcat cgtgtggaac cggcagcaga cgtggctgtg cgtggtacct
      361 ctgttcatcg gcttcatcgg cctggggctc agcctcatgc ttctcaaatg gatcgtggtg
      421 ggctccgtca aggagtacgt gcccaccgac ctagtggact ccaaggggat gggccaggac
      481 cccttcttcc tctccaagcc cagctctttc cccaaggcca tggagaccac caccactacc
      541 acttccacca cgtcccccgc caccccctcc gccgggggtg ccgcctcctc caggacgccc
      601 aaccggatta gcactcgcct gaccaccatc acgcgggcgc ccactcgctt ccccgggcac
      661 cgggtgccca tccgggccag cccgcgctcc accacagcac ggaacactgc ggcccctgcg
      721 acggtcccgt ccaccacggc cccgttcttc agtagcagca cgctgggctc ccgacccccg
      781 gtgccaggaa ctccaagtac ccaggcaatg ccctcctggc ctactgcggc atacgctacc
      841 tcctcctacc ttcacgattc tactccctcc tggaccctgt ctccctttca ggatgctgcc
      901 tcctcttctt cctcttcttc ctcctccgct accaccacca caccagaaac tagcaccagc
      961 cccaaatttc atacgacgac atattccaca gagcgatccg agcacttcaa accctgccga
     1021 gacaaggacc ttgcatactg tctcaatgat ggcgagtgct ttgtgatcga aaccctgacc
     1081 ggatcccata aacactgtcg gtgcaaagaa ggctaccaag gagtccgttg tgatcaattt
     1141 ctgccgaaaa ctgattccat cttatcggat ccaacagacc acttggggat tgaattcatg
     1201 gagagtgaag aagtttatca aaggcaggtg ctgtcaattt catgtatcat ctttggaatt
     1261 gtcatcgtgg gcatgttctg tgcagcattc tacttcaaaa gcaagaaaca agctaaacaa
     1321 atccaagagc agctgaaagt gccacaaaat ggtaaaagct acagtctcaa agcatccagc
     1381 acaatggcaa agtcagagaa cttggtgaag agccatgtcc agctgcaaaa ttattcaaag
     1441 gtggaaaggc atcctgtgac tgcattggag aaaatgatgg agtcaagttt tgtcggcccc
     1501 cagtcattcc ctgaggtccc ttctcctgac agaggaagcc agtctgtcaa acaccacagg
     1561 agtctatcct cttgctgcag cccagggcaa agaagtggca tgctccatag gaatgccttc
     1621 agaaggacac ccccgtcacc ccgaagtagg ctaggtggaa ttgtgggacc agcatatcag
     1681 caactcgaag aatcaaggat cccagaccag gatacgatac cttgccaagg gtattcatcc
     1741 agtggtttaa aaacccaacg aaatacatca ataaatatgc aactgccttc aagagagaca
     1801 aacccctatt ttaatagctt ggagcaaaag gacctggtgg gctattcatc cacaagggcc
     1861 agttctgtgc ccatcatccc ttcagtgggt ttagaggaaa cctgcctgca aatgccaggg
     1921 atttctgaag tcaaaagcat caaatggtgc aaaaactcct attcagctga cgttgtcaat
     1981 gtgagtattc cagtcagcga ttgtcttata gcagaacaac aagaagtgaa aatattgcta
     2041 gaaactgtcc aggagcagat ccgaattctg actgatgcca gacggtcaga agactacgaa
     2101 ctggccagcg tagaaaccga ggacagtgca agcgaaaaca cagcctttct ccccctgagt
     2161 cccacagcca aatcagaacg agaggcgcaa tttgtcttaa gaaatgaaat acaaagagac
     2221 tctgcattga ccaagtgact tgagatgtag gaatctgtgc attctatgct ttgctcaaca
     2281 ggaaagagag gaaatcaaat acaaattatt tatatgcatt aatttaagag catctactta
     2341 gaagaaacca aatagtctat cgccctcata tcatagtgtt ttttaacaaa atattttttt
     2401 aagggaaaga aatgtttcag gagggataaa gcttaccatt aaagcttttg ggtagaattc
     2461 tgaatccaat ttcgtttagt cccaacactg tcctctttgg ctcttagaag atgtgggcaa
     2521 ttcagaccct tggccccaca gtgccagtgt ctcattaaaa aacactggca gttacctggt
     2581 ttcaaaaaga ggagagctgc atcccgcagg tggatgcacc agtgagcagg tggctcttgc
     2641 catttggctt gccagtccca agccctaaat ttctattcac ccaatagcct catcacaggt
     2701 tatgtcatgt cgacacatgt agtgttttct atttgatttt tggagaatgc cacaaaagac
     2761 tctgcaatgg gaaggaggac aggagataga aggagaaacc gggggcaatc ttaactactc
     2821 ttgtgtgcca ccttcctctg agatttgaat gcacagatct cagctggagg tatgaaatta
     2881 ttacagaaaa agagacaaaa aaatccttat atcgtgtcac taaaatcatg ctaatagaaa
     2941 tgtttttcct tgagattgtt tagaggctct ggaggagcgt ttctcagttt ttgtgtgcct
     3001 gtgtgcacat gtgtgtgcga gcgtgtgtgt gtgtggactt gctcacgcgg gcacatatgc
     3061 tgtaagcaca tgtgttcatt gtgcgtatgt gtgtgcatgt gtgcgcgtat tacgcttgct
     3121 aaaatttgtt ctgaaacatc agggaatcta ctattcagaa aaattatttc cctcttagat
     3181 cttttcactt taaatttttc cattaagtat aaagttcagt tagttcttaa atcaaggtca
     3241 cttgcatggt ggggtcgtat aaaactcttg acactgtcta gaccattttc tgatgtgaat
     3301 acttttgaga ggatcaacta ttggctcatt aatgatatca gtatcataag gtgagttcat
     3361 caaggatgtg tgtttatttt gaatcatgcc tacttaaatt attaatacaa gacaattaac
     3421 aaattgacag ttaccatttg ctttctcatc atcctcatta ccatttattt tatagcaagt
     3481 ctgctatgtg tggaccaagg cttcggcttc tgtggttagt atgggaagaa taaattgttg
     3541 aaataaaaat acccagacta ttcagttcac aagaagcccc ccaaaagaac agtaaattgt
     3601 gttgtatgtt catttggaat aaagcaatat ttttaccact gctaaggtga actgaaacct
     3661 ctcctgaaga tttgtctgtt tatttaccct cactttcatg ggacatatga ggaaattagt
     3721 gttcacatat ccagtctttt tccaattatt ggtggtgttg agttgttatg tttacactgt
     3781 tttaaataaa aaggcaccgt atttgaaagc a
//
LOCUS       NM_001010851            6282 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 766 (ZNF766), mRNA.
ACCESSION   NM_001010851
VERSION     NM_001010851.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6282)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 6282)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.224562.1, BX648899.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000439461.6/ ENSP00000409652.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX648899.1, AK024268.1 and AC010320.10.
            On Nov 23, 2018 this sequence version replaced NM_001010851.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6282
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     gene            1..6282
                     /gene="ZNF766"
                     /note="zinc finger protein 766"
                     /db_xref="GeneID:90321"
                     /db_xref="HGNC:HGNC:28063"
     CDS             28..1434
                     /gene="ZNF766"
                     /codon_start=1
                     /product="zinc finger protein 766"
                     /protein_id="NP_001010851.1"
                     /db_xref="CCDS:CCDS46163.1"
                     /db_xref="GeneID:90321"
                     /db_xref="HGNC:HGNC:28063"
                     /translation="MAQLRRGHLTFRDVAIEFSQEEWKCLDPVQKALYRDVMLENYRNL
                     VSLGICLPDLSIISMMKQRTEPWTVENEMKVAKNPDRWEGIKDINTGRSCAVRSKAGNK
                     PITNQLGLTFQLPLPELEIFQGEGKIYECNQVQKFISHSSSVSPLQRIYSGVKTHIFNK
                     HRNDFVDFPLLSQEQKAHIRRKPYECNEQGKVFRVSSSLPNHQVIHTADKPNRCHECGK
                     TVRDKSGLAEHWRIRTGEKPYKCKECGKLFNRIAYLARHEKVHTGESPYKCNECGKVFS
                     RITYLVRHQKIHTREKPHKCNKCGKVYSSSSYLAQHWRIHTGEKLYKCNKCGKEFSGHS
                     SLTTHLLIHTGEKPYKCKECDKAFRHKFSLTVHQRNHNGEKPYKCHECGKVFTQVSHLA
                     RHQKIHTGEKPYKCNECGKVFTQNSHLANHQRIHTGEKPYKCHVCGKVFRHSSWFVQHQ
                     RSVHERVLTN"
     regulatory      2934..2939
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF766"
                     /note="hexamer: AATAAA"
     polyA_site      2955
                     /gene="ZNF766"
                     /note="major polyA site"
     regulatory      6256..6261
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF766"
                     /note="hexamer: AATAAA"
     polyA_site      6282
                     /gene="ZNF766"
ORIGIN
        1 agacccggaa gtggatggcg tggagatatg gcgcaactgc ggcgcggaca cttgacattc
       61 agggacgtgg ccatagaatt ctctcaggag gagtggaaat gcctggaccc tgtgcagaag
      121 gctttataca gggatgtgat gttggagaac tacaggaacc tggtctccct gggaatctgt
      181 cttcctgacc tgagtattat ctccatgatg aagcaaagga cagagccctg gactgtggag
      241 aatgaaatga aagtagcaaa aaatccagat aggtgggaag gtatcaaaga tatcaacaca
      301 gggaggagct gtgcagtgag aagcaaagca ggaaacaagc ctattacaaa tcaacttgga
      361 ttaacctttc agttacctct gccagaactg gagatatttc aaggtgaagg gaagatttat
      421 gaatgtaatc aagttcaaaa gttcatcagc cacagttctt cagtttcgcc acttcaaaga
      481 atttactctg gggtcaaaac ccacatattt aataaacata ggaatgattt tgttgatttt
      541 ccattgctgt cacaagaaca gaaagcacac attaggagaa aaccttacga atgtaatgag
      601 cagggcaaag tcttcagagt gtcttcaagc cttcctaatc atcaagtaat ccacactgca
      661 gataaaccta acagatgtca tgaatgtggt aaaaccgtca gggacaagtc aggcctcgca
      721 gaacattgga gaattcgtac aggagagaaa ccttacaaat gtaaagagtg tggcaagctc
      781 ttcaatcgaa ttgcatacct tgcacgacac gagaaagtgc atactggaga gagtccttac
      841 aaatgtaatg agtgtggcaa ggtcttcagt cgaattacat accttgtacg acatcagaaa
      901 attcatacta gagagaaacc tcataaatgt aacaaatgtg gcaaggttta tagtagcagt
      961 tcatacctag cacaacattg gagaattcat acaggagaga aactttacaa atgtaataaa
     1021 tgtggcaaag aatttagtgg gcattcaagc ctcaccaccc atctgttaat ccacactgga
     1081 gagaaacctt acaaatgtaa agaatgtgac aaagctttta ggcacaagtt ctccctgaca
     1141 gttcatcaga gaaatcataa tggagagaaa ccttataaat gtcatgaatg tggcaaagtc
     1201 ttcactcaag tttcacatct tgcacgacat cagaaaattc acactggaga gaaaccttac
     1261 aaatgtaatg agtgtggcaa agtcttcact cagaattcac accttgcaaa tcatcagaga
     1321 atccacactg gagagaaacc ttacaaatgc catgtgtgtg gtaaggtctt taggcacagt
     1381 tcatggtttg tacagcatca gagaagtgtt catgagagag tccttacaaa ctgagtttgg
     1441 caaactctat cataagttct agcagtaatc aacatccgag agtctatact agaaagaaat
     1501 catttaaatg tactatatgt ggcacaggct gtatcgagac ctaccaaatc actagacatc
     1561 gaaacattca tctttggtga aaccacacaa atggattgtg tgtgccaagg ccaacaagtc
     1621 aaaatatgtt gaacctaatg atatgatgtg tataaagggt gcaaggacac gtggaaatga
     1681 tctgtaatat tcgggttatt aaaaatgtaa ttggctgggc gcagtggctc acacctgtaa
     1741 tcctagcact ttgggaggtt gaggcaggtg gatcacaagg tcaggagttt gagaccagcc
     1801 tggccaatat ggtgaaacac catatctact ataaatacaa aaaaattagc caggcgtggt
     1861 ggcacatgcc tgcaatccca gctactcggg aggctgaggc aggagaattg cttgaatcca
     1921 ggaggcagag gttgttgcag tgagctgaga tcgcgccact gcactccaac ctgggtgaca
     1981 gagcgagact ccgtctcaaa aaaaaaaaaa aattatttgg gtttgaaagg ccaggggcag
     2041 tggttcatgc ctataatctc agcacaatag aaagccaaga caggagggtc acttgatgcc
     2101 tggagatcaa gataagtatg ggcaacgtag caaggcccat ccctacaaaa taaaaaaaat
     2161 aagccaggcc cttggcatgt gtctgtagtt ccagctactc aagaggccga ggcaagagga
     2221 ttgctcaagc ccaggagttt gagagtttga gcagtgagct ctgatcttgc catttgtact
     2281 ccagcttggg tgacagagcg agaccctgtc tcaaaagaaa aaaaaggcta gtttttatga
     2341 cttcaacctg aactttgaaa tttcttcatg tgccttccct acaggccttt cactgtggtc
     2401 tgggaaagaa tcagtaagat gacagggctg acttcattag atgaggagcg tttctatcca
     2461 gtttcctgga ggaataagga cactgccttt tcagattaaa gattgtctga tttagagacc
     2521 atggaggtgg acagagaata acaaaaccgt gatggcagtc atcatgctta ttgcagttag
     2581 cacacacttt tcctgacagg cacagtgctg ctgtgctcta caaatgacca tgaaatagag
     2641 cacgccatga ctttaggaca cagggatttt tatgggaaga gagttcatca gggactgatt
     2701 acgtaggaga gacgatgcag gggaaatggt ggccaccgtc tccattgaat agcaatagct
     2761 gctgtttagc aaagactgat taaaaagtac tctgattttt caaatggaag agagaacagt
     2821 taaatcagag tagagagttt aatcaaaact accagtggaa catgttcttg agtaggattc
     2881 acatttaact gctggcataa tttgcaactg ttggattttc tcatgtttgg aacaataaag
     2941 ttgaaatttt ccaaagtgtg aatgatttac cttctttcta ccaatattgt tttatctcgt
     3001 ctcaggagga tactttatag cagacaataa taaggcacca ttaggatttt taaattaatt
     3061 tatttttaaa attaaagttc tagtgtacat gtccacaaca tgcaggtttg ttacataggt
     3121 atacatgtgc catattcgtt tgctgcaccc atcaacttgt catttacgtt agatatttct
     3181 cctaatgtta tccctctgcc agccccccac cccccgacag gccccggtgt gtgatgttac
     3241 ccgccttgtg tccaggtgtt ctcattgatc aattcccacc tatgagtgag aacatggggt
     3301 gtttggtctt ctgtcactgt gatagtttgc tgagaatgat ggtttccagc ttcatcaatg
     3361 tccctgcaaa ggacatgaac tcatcctttt tatggctgca tagtattcct tttttttttt
     3421 tttttttgag atgaagtttt gctctgtcac tcaggctgaa gtgcaatggc acgatcttgg
     3481 ctcactgcat cctctgcctc ccgggttcaa gtgattctcc tgtctacacc tcccaagtag
     3541 ctggattaca ggcatgcacc accatacccg gctaattttt ttgtattttt agtagagatg
     3601 gggtttcacc atgttggcca ggccggtctc gaagtcctga cctcgggtga tccagccacc
     3661 tcgggttccc gaagtgctaa gattacaggc atgagccacg gcgcctggcc aggattttta
     3721 aggttgaagc atccacaaca attttgtgtg tgaaatgaaa tgacatgcac ttttgggtat
     3781 atacacttgg gtaagtatga ttttgggtaa taatacttag tacttaagtt attctctcta
     3841 ctctttgttt ttgttttttg tttgttttgt tttgttttga gatggagttt cgctcttgtt
     3901 tcccaggctg gagtgcaatg gtgtgatctc ggctcaccgc aacctccgcc ttccaggttc
     3961 aagtgattct cctgcctcag cctcccgagt agctgggatt acatgcatgt gccaccatgc
     4021 ccagctaatt ttgttttttt agtagagaca gggtttctcc atattggtga ggctggtctc
     4081 gaactcctga cctcaggtga tctgcccacc tcggcctccc aaagtgctgg gattataggc
     4141 atgagccacc acacttggcc tacctctcta ctctgcccta agatgctttt gtgggtaaag
     4201 tgaaaatcac ataacagtgc agcttcatca tcatatgccc tcaatgttca tcactgttga
     4261 taaacatgca ctgtattatg tttctgtgtg cctttttctt gtgtgccaag taagacccat
     4321 ggcaggcacc ttcattttca ggaagcgaaa atacagatac agtaatatgg aaaataggac
     4381 aaagtgtgga cttcaggatg aaaatattgt aacaatcttg ctgttgacct cgtagcgctc
     4441 agtgacataa tttgaaaaaa tattaatgtt cagaaatgtt ctcttgagga tgaacacaca
     4501 gattgggaat ttcgttttgc tttggtagat taactagaaa cttcacattt tcacccttat
     4561 aacctttttg gtaatttgaa cttttgatca ttcttctgga actgctttga catccacctg
     4621 aagtttggtt tgggtattga gaatgatgat gccattcact aatgtgatct caaaatgttt
     4681 actccataat gaggctttct ggggagagca gggtagactt ccccggttgg tccaaatatg
     4741 actagggaat cggcataggt gactggcttg gggtatgatg attgttaagg gatagggctt
     4801 gggcaggggt gcccacttgt ggtttgaact ttcagctggt gccaaaggag tgggcactga
     4861 ggatttttca gttgaccaga tgggcagaat aggaagaggg agtgcagagg tgtaaaaggc
     4921 gttggtgttc agacatcaca aaatgcagtc aactctagga caactctagc ttcctctgga
     4981 agctcctgcc atcttggtta ggaaagactc tgattttctt catgataata tcttacgttc
     5041 cttttatagt tacagataca ggtctcattg cacaatatga ttgttgaaaa cacttgtgaa
     5101 atttttttag taaaattgcc taagatactt tttatagtag acaatgaaaa ttagtgtgtg
     5161 ggtttataat aaatataatg tattatataa tatgattaaa atatatttgt tataaatatg
     5221 atattactag aagagcattt ttccaaaagc tatggaaatg tcattttccc gttacagcat
     5281 caagcaatat attccatggt tcattttcaa ctctaataaa attatatttt gtgtttatat
     5341 atgcacgtat agacacatat ataatatttt ttttttactt ttttcttttt ctgtacattg
     5401 catccagatg ctatgcttgt ttgttttttt ttttgagaca gagtcttgct ctgtcaccca
     5461 ggctggagtg cagcggtgtg atcttggctc attgcagcct ccgcctccca ggctcaagtg
     5521 attctcctgc ctcggcctcc cgaatagctg ggattacaga catgcaccat caccacacct
     5581 ggctaatttt tgtatttgta atagagatgg ggtttcacca tgttggccag gcatggtctt
     5641 gaactcctga cttcaggtga tccacccgct tcggcctccc aaagtgttgg gattacaggc
     5701 atgagccacc atgcccggcc agatgctatg cttaatacat tttttccgaa tgtcactcta
     5761 gtgaaaattt taggggacac aaaaatgaga ctgttgtttg gagacaatat tttttgacaa
     5821 gagtatgcac aagacaatgg caggtataaa cgttttattg taaatatgaa aaaggaaaaa
     5881 atgctttcac tatattagag gacttgaagt aacgtgaagt gattccaacc ctttatcttt
     5941 attttattta tttattttat tatttatttt tttgagatgg agtttcactc ttgttgccta
     6001 agctggagtg caatggagtg atctcagctc actgcaacct tcacctcccg ggagcatgct
     6061 gctctatctt ttttttcaga tgtttgagct attccaggtt ttttgggatt tctgttggtt
     6121 tgttttgttt tttgcttttc tacataattg tttggataat cttgtcagta tctacgaagt
     6181 gccttgatag taaatatatt aaccctgtgt atcaatttgg ggtaatttca catttttttc
     6241 tatgttgagt ttatcaataa attgatattg tatatgtctc ta
//
LOCUS       NM_001010852           11219 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens clavesin 2 (CLVS2), mRNA.
ACCESSION   NM_001010852
VERSION     NM_001010852.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 11219)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 11219)
  AUTHORS   Tao S, Wang Z, Feng J, Hsu FC, Jin G, Kim ST, Zhang Z, Gronberg H,
            Zheng LS, Isaacs WB, Xu J and Sun J.
  TITLE     A genome-wide search for loci interacting with known prostate cancer
            risk-associated genetic variants
  JOURNAL   Carcinogenesis 33 (3), 598-603 (2012)
   PUBMED   22219177
REFERENCE   3  (bases 1 to 11219)
  AUTHORS   Katoh Y, Ritter B, Gaffry T, Blondeau F, Honing S and McPherson PS.
  TITLE     The clavesin family, neuron-specific lipid- and clathrin-binding
            Sec14 proteins regulating lysosomal morphology
  JOURNAL   J Biol Chem 284 (40), 27646-27654 (2009)
   PUBMED   19651769
  REMARK    GeneRIF: Clavesin protein family appears to provide a unique
            neuron-specific regulation of late endosome/lysosome morphology.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.11381.1,
            SRR1660803.190165.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000275162.10/ ENSP00000275162.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK095527.1, AL591428.2,
            AK295158.1 and BM684470.1.
            On Nov 23, 2018 this sequence version replaced NM_001010852.3.
            Summary: This gene encodes a protein that belongs to the
            SEC14/CRAL-TRIO family of proteins. A similar protein in rat is
            thought to function in the endosomal pathway between early
            endosomes and mature lysosomes. [provided by RefSeq, Aug 2013].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..11219
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.31"
     gene            1..11219
                     /gene="CLVS2"
                     /gene_synonym="bA160A10.4; C6orf212; C6orf213; RLBP1L2"
                     /note="clavesin 2"
                     /db_xref="GeneID:134829"
                     /db_xref="HGNC:HGNC:23046"
                     /db_xref="MIM:616945"
     misc_feature    940..942
                     /gene="CLVS2"
                     /gene_synonym="bA160A10.4; C6orf212; C6orf213; RLBP1L2"
                     /note="upstream in-frame stop codon"
     CDS             1072..2055
                     /gene="CLVS2"
                     /gene_synonym="bA160A10.4; C6orf212; C6orf213; RLBP1L2"
                     /note="retinaldehyde binding protein 1-like 2; clathrin
                     vesicle-associated Sec14 protein 2"
                     /codon_start=1
                     /product="clavesin-2"
                     /protein_id="NP_001010852.2"
                     /db_xref="CCDS:CCDS34525.1"
                     /db_xref="GeneID:134829"
                     /db_xref="HGNC:HGNC:23046"
                     /db_xref="MIM:616945"
                     /translation="MTHLQAGLSPETLEKARLELNENPDTLHQDIQEVRDMVITRPDIG
                     FLRTDDAFILRFLRARKFHHFEAFRLLAQYFEYRQQNLDMFKSFKATDPGIKQALKDGF
                     PGGLANLDHYGRKILVLFAANWDQSRYTLVDILRAILLSLEAMIEDPELQVNGFVLIID
                     WSNFTFKQASKLTPSMLRLAIEGLQDSFPARFGGIHFVNQPWYIHALYTVIRPFLKEKT
                     RKRIFLHGNNLNSLHQLIHPEILPSEFGGMLPPYDMGTWARTLLDHEYDDDSEYNVDSY
                     SMPVKEVEKELSPKSMKRSQSVVDPTVLKRMDKNEEENMQPLLSLD"
     misc_feature    1930..2052
                     /gene="CLVS2"
                     /gene_synonym="bA160A10.4; C6orf212; C6orf213; RLBP1L2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SYC1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2044..2046
                     /gene="CLVS2"
                     /gene_synonym="bA160A10.4; C6orf212; C6orf213; RLBP1L2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A6JUQ6; propagated from
                     UniProtKB/Swiss-Prot (Q5SYC1.1); phosphorylation site"
     regulatory      5267..5272
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLVS2"
                     /gene_synonym="bA160A10.4; C6orf212; C6orf213; RLBP1L2"
                     /note="hexamer: ATTAAA"
     polyA_site      5289
                     /gene="CLVS2"
                     /gene_synonym="bA160A10.4; C6orf212; C6orf213; RLBP1L2"
                     /note="major polyA site"
     regulatory      7692..7697
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLVS2"
                     /gene_synonym="bA160A10.4; C6orf212; C6orf213; RLBP1L2"
                     /note="hexamer: AATAAA"
     polyA_site      7714
                     /gene="CLVS2"
                     /gene_synonym="bA160A10.4; C6orf212; C6orf213; RLBP1L2"
                     /note="major polyA site"
     regulatory      11193..11198
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLVS2"
                     /gene_synonym="bA160A10.4; C6orf212; C6orf213; RLBP1L2"
                     /note="hexamer: AATAAA"
     polyA_site      11219
                     /gene="CLVS2"
                     /gene_synonym="bA160A10.4; C6orf212; C6orf213; RLBP1L2"
                     /note="major polyA site"
ORIGIN
        1 gtcctctttc agcagcagca gccggagccg ccgccgcagc ccggtggggc aaccctgact
       61 cggaccgctc gggagagccc caggagaggc cagcgccgcg cagcagccgc cccgctgcgc
      121 ccacctcccc ggctgctccc ggagggctca caaaggcggt ggccgcccga gtggccttct
      181 ccatccaggc gttcgcgtcc tcctccccac cttctctccc gaaggcgaaa atggcagggc
      241 caggcgagaa cctgggacag cggtggccct agccctgcga tcctcacccc tcctgctagg
      301 agaggctgcg ggctgcccgc ggacgatgtg gccgcggctg ctcccgagcg catcttcggc
      361 ccgggtcccc gccgccaccc ctcttctctg ctccttccat cccgcccaga ggagttgatg
      421 ccgctgtcgc cgccgccgcc gctgctgaag ccgcggctga tggatgccag ggagtgccgc
      481 attgcttagc gaccccgcct ctgggtttgc tgatgatctc tctccgccct ggagctcagc
      541 gctgaagagc taccttatta ttaatcagaa tttccatcgc cacccctggc aggcgtatcc
      601 ttcagcaggg accgcaggaa cattcacagt gcaggggctg agatgtgcgt gggggttgtt
      661 tttgttacat cttggaagag aagagaagag gacagtacca agatcagaaa cacccgtgct
      721 aggtggaatt aggggtgatt tgttaggaaa gagaaaggac aagaagagga gtgcggagcc
      781 cttcaggggt tcacatctct ttaaaggaaa ggaaagaggg agccaaagta gggtgttgta
      841 ttttaggggg cagaggaaga agtttacacc ccccggcccc cccagctttg ctgggggaaa
      901 gcaggagcaa cagggcactt gattggacac caagattatt aatttcctgt aggggagagg
      961 aagcaggcag caggaggtct gggggctgga gtctggtggt ggcaaggacc aggtttgctt
     1021 tgggacagtc aacaaggtct tctgagggaa agctcagaga taggcagaac aatgactcat
     1081 ttgcaagccg gtctctcccc tgagaccctg gagaaagctc gcctggagct caatgaaaac
     1141 ccagacacgc tgcaccagga catccaggag gtgagggata tggtcatcac caggccggac
     1201 attggctttc tgcgcacgga tgatgccttc atcttacgct tcttgcgggc taggaagttt
     1261 catcactttg aggccttccg cctcctggcg cagtactttg agtaccggca gcagaacctg
     1321 gacatgttca aaagctttaa ggccaccgac cctggcatca agcaggcact gaaggatggc
     1381 ttccctgggg gcctggccaa tctggaccac tatggcagga agattctagt cctttttgct
     1441 gccaattggg atcagagcag gtacacactg gtggatattt tgcgtgccat cttactttct
     1501 ttagaagcca tgattgaaga tcctgagctt caagtgaatg ggtttgtttt gatcatagac
     1561 tggagtaact tcactttcaa gcaagcctct aaactcacac caagtatgct gcgattagct
     1621 attgaaggcc tgcaggatag tttcccagcg cgatttggag gaattcattt tgtcaatcaa
     1681 ccatggtata tccatgccct gtacaccgtg atccggcctt tcctgaagga gaaaactcgg
     1741 aaaaggatat ttttgcatgg taacaacctg aacagtctac accaactaat tcatcctgag
     1801 atcctgccct ctgagtttgg aggaatgctg cctccttatg acatggggac atgggcaaga
     1861 acactgctag accatgaata tgacgatgac agcgagtaca atgtagactc ctacagcatg
     1921 cctgtgaagg aagtagagaa ggaactctcc ccaaagtcca tgaagagatc tcaatcagta
     1981 gtggatccta cagtactaaa acgcatggat aaaaatgagg aagaaaacat gcaaccattg
     2041 ctttctctgg actaataact tctctacatc cccttcatgg attagaaatg gaaagtattg
     2101 gttttcagca acagggacaa cactgtagag gaattaccag ctggaaaccg acttattcat
     2161 gttaatgtag cataatatat aacaaggcat caggctttcc ttggcctgaa ccatgggggc
     2221 cctgggctgg atttttaaaa tgtcaataat ttattctgta agtgccaagt tgtttgtaaa
     2281 tataatgtaa tcttcatgtc aagtttgtaa atttcagtag taactcagtt tggaaaaagg
     2341 ttggctcaaa agtccatgcc agtgttatga actataacaa aaagcagaaa agacacagtc
     2401 aaagctaatt aaatgtagcc ctctttccta tgaagccata tttcagctct catagtgatt
     2461 gtttcattgt ttttctctga aactctgtca gtattcaaac atactcttaa cgggcacaca
     2521 caactaagtg attccaggaa attttatgat taatgtattt cctgtctagt gattttcatt
     2581 tcagagaaat gtgtcttagt aactatcatt ggccttgcat tttggaggca aggaatggca
     2641 gatgagctgg taaactgaac acttgaactc ttctatgttg tttaattctt ggaatcttgt
     2701 gaaaagatgt gtttcctcaa ttaagacgta gaaatgtaaa aaagagtgga ttctttttaa
     2761 attgctgtct tcacaatgtg ccctttattc aagaccctat tatatttctt cctaatgtac
     2821 tctaagtaca tttcccctcc aaaactcttt gactaagaga atgagaactc atgtgaacag
     2881 tgttctgaca gctaattttg aacataaaat tttccactta cagatgaggg gctaatttct
     2941 aattgttgtg cactggttaa aaagtatata tatatatata ttcacacata tatattttta
     3001 ctgagctcta ataaatcctt aatgtgacag gcttataaaa taaatcatag atattcaatg
     3061 atcttatgga taattacatg agataactct ggaaaactac ttccactgaa gttaatgaaa
     3121 aggagaaata gtgaaactga ctttcagtgt acctatttaa aggaattcca agttaattta
     3181 taatgcaatc ttacatatgt gccatcttat ttgaactata tttttccttc aaagaagcaa
     3241 taggtctcaa catagtgtag gtagcatcag gtgacagaaa gccaatttta ttttcaaatt
     3301 taagttaatt atcttcgtga tcctatttat ccacaatttc tttcagaaaa gactgaaaaa
     3361 acacattata ttcaggagat ataatgaaat tattggaagg catctatgac aacatgtaat
     3421 catttatacg tggatttaga aatttgcata tttaacattt tatttcataa aatttataca
     3481 attacagcaa atcttaattt tttaatttta aatttcaatg tgaaaaaatg atttttatca
     3541 cccataataa attttgagat tgagagttta ccattaaagt attcttttgg aagaaaaata
     3601 tctcagaaac tcttggaaac caacaaaaat aaaggcatgt gtcagccttc atattttttg
     3661 gccaaaagct cccaaaattt gttataattc tgcagccaaa aattgtaaaa gcaagctgaa
     3721 tacaccaatg tacagtgtat caatggactg cctcatgtgt gtaaaaatac attaattaac
     3781 acaaatgaaa gataccttaa taatgccaac ctccagtcaa gtgcagaaga ataatgactg
     3841 tcaggcactc tgctctcctt gtgactttta cagagattgg aatgcactgg ggacaacatg
     3901 tctcagcagt tcttaccttt ataagaattc taaccattga tattcttaca ttcttgccta
     3961 cctgacatac attttgtagc catgggcttt ttagactata taaatcttag gcagtataat
     4021 ccattggaat aaaatagaaa cattgtaagt gcagagggca gtcaactttt cattctcatg
     4081 agtttctctt gatgtgtacc atttattgcc agttttcaga attctgccag tttcagatgt
     4141 caaccagcat tggcagcttc tttcccctat cgtaaagtta gtgtcatata taaaaataac
     4201 tagaaaggca tattttatat gtatgcctat ctaattataa gtatcattca cactgtctcc
     4261 cagacccaca tttggaaagt ttgcattgca ttactgctca tctttagatg agcaattgag
     4321 agttggctag attgtgtaaa atattttaaa atgaatgaac aaattacaat gatgatgcct
     4381 tttgaaatta ccatatctag ttcattctgt gaataaactc attttctagt aatgtttgtg
     4441 aaccttagtc aagggatatt cattcaactt tataaattta cccctcagca ccagctatct
     4501 agcactgttt aggaattttt cccttcatga tattctgtgt cacatcctat gtctatgaat
     4561 aacctataca ctatagttgt atgcctataa gcactcctat actcttgtat tttaattgca
     4621 atagtatacc tccactctct ctctctctct catacacaca cacacacaca ctcttacaca
     4681 cacactaaca cactagactg tttgccctaa tgaattttcc tctgtacttc gagagctatt
     4741 ttagttgtct tgtcacttga aatttgcggg cttcaaagaa ttatcgcatt tgacttggaa
     4801 tggtccagta gtccatttac ttctttcacc ctgcctgttc catcttctat ttctgatatt
     4861 ttttctttct tccagttatt tcaggggcag gtgattccaa agctggttta aaaataaata
     4921 acttctctta tgttgtcagt gatgtttgcc tgcatttttg actactattt aagagggaag
     4981 agattatcat gaaaatatac tctaagaaat atgaagaagt gcctctttga aaatggaata
     5041 aagcaacgtt actggcatat ggattttatt tgtactctct tccaaaaagt aaatacgtaa
     5101 atctatatta tataggtgaa atatagatat catttgaaga aggatattta aggcctttat
     5161 ttgaacatac tcatacagta ttaagtctct gttgtgtaag ttaaatacag taactttagt
     5221 acatgttaat gataaacgtg gcactaggct aaaacgatat acgagtatta aacagagttt
     5281 tgcaagcaag tttttgaagt gggcatgcat gaattctttc atttcagtaa tggtttgcat
     5341 aagtgtagac agagatattt cctaagtttt ttcatataga atacttattt actttatagt
     5401 accaaaaatt catacattca taagcaggaa agccaaaaat tcatacatta atacttagct
     5461 tttttaatac tgttaactag gtcatattgt taaacatgtg aagcgtctgt aatattcctg
     5521 agggaaaaga ggtccctcta ttgcatcaag aaattggaga gttgttttag acattgggga
     5581 atatgtttat gactcttcac ataaagaaac cttcagagcc atggagtatg tcttcaggga
     5641 cagggatcat ttgcttctac aatgtaaagg tttatggaca tatctctggt cctttaaaga
     5701 agttacatta agaaagcttg ctgagaggct gtacactctt ctgttgtttt atttaaaggt
     5761 ctgccttgtg tggttggtga ataatatctc agcttctttt tttgtgtata tttattaatg
     5821 attacatgaa aagttgccat cagccatgag gacacttcaa aaattttcaa cacactaaat
     5881 aaaatgagca gagctctagc atgatatttg aactttcaga tatggtatat gtacattttt
     5941 tacaacaata agctcatagg catatattcc attgtagatc tgctatataa atacatagcc
     6001 tgaaacatag taatgcattt gaaatttgtg aggtcactga tcatacaaga agaggcagat
     6061 tataaaccaa catattggaa caaaagaaga ttggttaaat atgcaaggtg tgtaattatc
     6121 ttcagtaatg aaaaggattt gttttcttgt ttttgtcttt ggttttagtt gaaaaaatag
     6181 cttcccatat gctactggaa ctatttgaca ttatttgcta catgaaaaaa ggcaaataag
     6241 taaacataca aaagaagctt ggctttgtaa cattattata ttatgatctc aatggcttag
     6301 agaatataat cttttttaag aattaaagat tttattttat aaatatttgg aggttaacat
     6361 aggacatgaa aatagtgctg tggattctgt tatgtactaa ctatgggaat gaattctcca
     6421 gtaccatagg aaaatatata agataacaac tttgtggatt gaaacactca aattagcctt
     6481 tttttcaagg aagcaggtgt acaaatgatg ctattgaaat aaaaaaatgt agaaatcact
     6541 taattatagg agttaaatat aatcaatgca ctcatggtaa ataatggaaa ttgttaaaat
     6601 ttagaagagt tttgtcatta tttgacttag atttaagtct cagtgcaaat atgtctgtcc
     6661 ttgatatagt gcatttattc tgtaagactt attttacctg gtgaacgaga tggacttagg
     6721 tgaaaataaa ttttaaccac agttttaagg gtcacccaat cctcaactac tttaaaaaat
     6781 tgcaatgaat tttaattcat ttacttttaa cagagataca aagcactgtc ttgtttctaa
     6841 tccaattttt caatttttca gattttatat ttgcttaaac aataaataaa actcagaaaa
     6901 ccaaatagtt tttgttttca aagctatcca ggaaaaataa aagatgtcta acaggaaatc
     6961 atacaagtcc ttgaagaata ctgagtatat tatttgctat tttactcaaa tgttattaat
     7021 ttttactact acaaactact tatttagtac tacacggcat ttactatttg gccttttgaa
     7081 ggagttataa attccaaaac actataatat aatttttgga caagtataca tttctgttta
     7141 aaagaaatgt atgcttttat tttgtatatt ttatatttta aatgtataca tttattttgc
     7201 acattgttaa tgttaaattt ggtagtcctg gatctgctgc atctataaaa tggagatttc
     7261 tttaaaaaat cgtctaaaaa ttagcaatat ttttattttg agagaaattg tgcttagcta
     7321 tttaagttaa gattcctcaa gtttgtgata tttgtatgtg tggggatcaa agaggaaaat
     7381 atatagtaat ttgtttcatc aaaatgacgt attcaatatt ctataacttc tagtcaaact
     7441 ttcaaatgaa agtttgaaag aagtaaacta atgttttaat tacatatagc aaaggaatga
     7501 tcagtaaata aaataactag ggttttcaca tttgcaatag aatgactgga ttaggcaaga
     7561 gattaaattt agaaatttga attacagaaa agcattggtt taaataaatc ctcaaaaaag
     7621 taatcccagg tcaaaatatg atgtgaaatt aaaaaaaaaa ttcagcctga tttgagaaag
     7681 aatgcttact caataaatat gtatttgtgt cttctgtgag tttccctcat ttatcctatc
     7741 tgtggatgaa aagtcatcta ataaggtata agagactcaa ttacatttac ctagaaccat
     7801 ctacaagtag acttcatgaa tttctttggc tcaaactcag aggattttct ttacacagga
     7861 ttcttgaggt tatcaagaat cgttattgct gctccctcct aaaggcaggc caggagaagc
     7921 cacatttcca gcagtagtat cctcagtggg aatgaaccag aaaacaaaga aaaagccaga
     7981 gatattgtct ccactctcgt tacaaaaaag tgcgttcctt cttcaggagg atcgagtaga
     8041 aaatattttc tactcgaaga ggccatgggg aagtgatggt caaatctctg ttgtgaagca
     8101 agtttccaca cagaaacatc atcaaaaaca cgtacctctg agcatcactt ctttctctaa
     8161 aaataaaaat aaatatgctg ttttcctccc ttttttctaa ttggcatcat aaaagtataa
     8221 gaagccacaa atgcattgtt gccacttaag aaaaaaatcc tatgttatac atatatgaac
     8281 ataattcact tagttgcata tgattgaaat atttgcatgc tggtttataa attattacct
     8341 aaaagtttta tgaaatataa ttattaagtt ttagtgctag aaaaattgtt gttttttgtg
     8401 ttttgtattc atagggaaga ctagtaatat cccttactcc tcattcatat agctaacaat
     8461 tttaattgga tggctaatgg atatggcgga tttaacattt acaaaaccaa actactttca
     8521 ctctgaccct gcttcccctt tagccttctc atctcactat gtgtcgaccc caatcttcca
     8581 gtttctagga ataaaaattt tggagtcatc ctctctttcc ttcctctttt tctttcaaaa
     8641 ctacatcaca tcagctagct catgctgttg ggtcttcaaa atatatccac actctaacca
     8701 cttctccaat cttcttcact gtattggacc aagtcttcaa cattttccat ctggaatatt
     8761 ttaataatct aaaaactagt cttcttgctt ccagagtcaa ttttcaacac attagcaaga
     8821 gtgagtctct taaaatgtaa ctcagaccat tttgttctcc aaaccctctg aaagagtaaa
     8881 agccgatgtc tttatatcag tgtatgagaa gtcttgatat gaaggcagta agcaccagta
     8941 cagcaacata gcatggtttc tgattgggct ggcatttttg ctggtactat gaaaaaatag
     9001 ttgttaaata ctttaatttc ttgcttctga agttctctac cccgttcttg ccttttctta
     9061 gataatctct taagaatctc tcctttattt actgctgcca aactgtcatc tttgctgttc
     9121 caggaacttg ctaagcatgc ctctacctca ggactttcgc atttctgttc cctttgcctc
     9181 taatttcaga tatccacgtg gtttattccc tcatcttctt caggtatttg cttaaatgtc
     9241 atcttctttg tgaggactct ctttcctaat tttagatgaa acagccctgt ggttcttcat
     9301 attctccttt cctgctgtat ttcctctcca tagcatttat cacctgatac accatacaga
     9361 ttatttattt actttgcatt tccccccaat agcaatgtga actccacaag ggcaggaatt
     9421 tttgtctgtt tactactgca ttactggtgc cttgtacagt ccctggaact taacaaatcc
     9481 aaaatgattt catgaggatc ctaatttgtt tcagcaagtt atgtaacggc caatagtatg
     9541 aattgaaaga gtttcttgtt gtcttaattt aaaaaatttt gttatttatc ttcaaagggg
     9601 aaattttacc ctctcatgat aatagaatca tgaatcaaaa atgatatcct cttctcccca
     9661 attgtgatct ctatccctga gcctaagttt tacatcagta tttcagtttt gtctttagaa
     9721 gttactcaac gatcactgga ccctatatct atccacatgg cttactcttg gagagactac
     9781 aagatagctc aggggaaaag tcattttgag attaaaacta catggaattg ttctttatgg
     9841 attatcatgg ttaatttcaa tttttaaaaa tatgcaggaa gttaaaagac tataattcca
     9901 gtattggaag ccagtttaag agaatatgac tatgtagtta cttttaatgg aaaggggaag
     9961 aagaggaaga aaaaggaaag acattgtgtt cgtatcttct ctgcaacaat tataaaatga
    10021 atgaggaagt attttggtgt ttctaaggtc tttccatgat cttgaaatct atatattata
    10081 gtcatttagt ctgtgaacca ttttaacaat tgggtttcat gttacatatc tttaaatttt
    10141 tatgttgaaa atttatagct gtgacacaag atgatagaaa ttgctcatgc tcacatatat
    10201 tccaactggc ttttcagctt gctcccttct cttttaattt cagctatcat ttttagagcc
    10261 ttacagtcac aattgttctt aactatccca aatttttatt tcctatttgg actgacttct
    10321 ccataatttt agtaactaaa tgacctagat attggttctt gttgtgatag gtttctgatt
    10381 tgtatccttt gcagtttaac ttttaatcct taccaaacat atgttattcc ttttcttcag
    10441 ctacattgtt gtgcctttcc caacactgta ataatttaag cctcctgttt tataatcttc
    10501 tatcagaaca tatattaaga agacactgaa tttaaagaat cagcaggtga tgttgaagaa
    10561 gaaatataac ctgaaatata agaatagatg tttgaaactg tttcagaagt taaccagtct
    10621 tttagtggct ttgtaatggg taggggtttt attcctcttt gtgtgctatg taggacattg
    10681 ttaaccaata tagattatgt ttcttgtcag ttacacaagg ataggtaatc agggttaaca
    10741 gttcggaaaa cattctctag agaagagact aatgattctt gctcacaaac aaggcagaat
    10801 ttccttatgt ttcttaatat ttgatccttg atagtctgta cagtggaaac catttccctc
    10861 tgtgatatcc ttttttgcca acctatatga atgtgtttag cgtcacttca gatatagagt
    10921 tcaagctcaa gtatacacag cacatgaaag atcctatagt tcatgttctc ttaggttgaa
    10981 ttttcttttc ataatttttt atgattgaat tctaagggta tgttccttgg taaattgtgt
    11041 taattatgtc cactttataa tggatttaac aattttacaa agcagatcat tgtttattat
    11101 attctgaaaa ccattatatt aatattttat ttcttttttt gcagagaaac tattgtcttt
    11161 tttgatttct gaggatgaat gaagtactgt taaataaaat gtcactaaat gaaacttca
//
LOCUS       NM_001010853            4703 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA.
ACCESSION   NM_001010853
VERSION     NM_001010853.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4703)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 4703)
  AUTHORS   Veiga-da-Cunha M, Chevalier N, Stroobant V, Vertommen D and Van
            Schaftingen E.
  TITLE     Metabolite proofreading in carnosine and homocarnosine synthesis:
            molecular identification of PM20D2 as beta-alanyl-lysine dipeptidase
  JOURNAL   J Biol Chem 289 (28), 19726-19736 (2014)
   PUBMED   24891507
  REMARK    GeneRIF: PM20D2 hydrolyzed beta-alanyl-lysine,
            beta-alanyl-ornithine, gamma-aminobutyryl-lysine, and
            gamma-aminobutyryl-ornithine as its best substrates.
REFERENCE   3  (bases 1 to 4703)
  AUTHORS   Shin SY, Fauman EB, Petersen AK, Krumsiek J, Santos R, Huang J,
            Arnold M, Erte I, Forgetta V, Yang TP, Walter K, Menni C, Chen L,
            Vasquez L, Valdes AM, Hyde CL, Wang V, Ziemek D, Roberts P, Xi L,
            Grundberg E, Waldenberger M, Richards JB, Mohney RP, Milburn MV,
            John SL, Trimmer J, Theis FJ, Overington JP, Suhre K, Brosnan MJ,
            Gieger C, Kastenmuller G, Spector TD and Soranzo N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC035036.1, SRR1660807.66389.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000275072.5/ ENSP00000275072.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC035036.1, AK302464.1, AL353135.32 and AA503266.1.
            On Nov 22, 2018 this sequence version replaced NM_001010853.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4703
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q15"
     gene            1..4703
                     /gene="PM20D2"
                     /gene_synonym="ACY1L2"
                     /note="peptidase M20 domain containing 2"
                     /db_xref="GeneID:135293"
                     /db_xref="HGNC:HGNC:21408"
                     /db_xref="MIM:615913"
     CDS             91..1401
                     /gene="PM20D2"
                     /gene_synonym="ACY1L2"
                     /EC_number="3.4.13.4"
                     /note="aminoacylase-1-like protein 2; I(2)-alanyl-lysine
                     dipeptidase; beta-alanyl-lysine dipeptidase; beta-Ala-Lys
                     dipeptidase"
                     /codon_start=1
                     /product="xaa-Arg dipeptidase"
                     /protein_id="NP_001010853.1"
                     /db_xref="CCDS:CCDS34499.1"
                     /db_xref="GeneID:135293"
                     /db_xref="HGNC:HGNC:21408"
                     /db_xref="MIM:615913"
                     /translation="MRPGGERPVEGGACNGRSELELLKLRSAECIDEAAERLGALSRAI
                     WSQPELAYEEHHAHRVLTHFFEREPPAASWAVQPHYQLPTAFRAEWEPPEARAPSATPR
                     PLHLGFLCEYDALPGIGHACGHNLIAEVGAAAALGVRGALEGLPRPPPPVKVVVLGTPA
                     EEDGGGKIDLIEAGAFTNLDVVFMAHPSQENAAYLPDMAEHDVTVKYYGKASHSASYPW
                     EGLNALDAAVLAYNNLSVFRQQMKPTWRVHGIIKNGGVKPNIIPSYSELIYYFRAPSMK
                     ELQVLTKKAEDCFRAAALASGCTVEIKGGAHDYYNVLPNKSLWKAYMENGRKLGIEFIS
                     EDTMLNGPSGSTDFGNVSFVVPGIHPYFHIGSNALNHTEQYTEAAGSQEAQFYTLRTAK
                     ALAMTALDVIFKPELLEGIREDFKLKLQEEQFVNAVE"
     regulatory      4683..4688
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PM20D2"
                     /gene_synonym="ACY1L2"
                     /note="hexamer: AATAAA"
     polyA_site      4703
                     /gene="PM20D2"
                     /gene_synonym="ACY1L2"
                     /note="major polyA site"
ORIGIN
        1 ctggaggcct ctgggcgcgt gcgcgggcgg tcgctacctg cggccgagcc agggagcgag
       61 agggcgcaga gggcagcggg cttgggcagc atgaggcccg gaggggagcg gcccgtggaa
      121 gggggcgcgt gcaatggccg ctccgagctg gagctactga agctgcgctc ggcggagtgc
      181 atcgacgagg cggccgagcg gctgggggcc ctgagccgcg cgatctggag ccagcccgag
      241 ctggcctacg aggagcacca tgcccaccgc gtgctgacgc acttcttcga gcgggagccg
      301 cccgcggcct cctgggcagt gcagccgcac taccagctgc ccacggcctt ccgcgccgag
      361 tgggagccgc cggaggcccg ggcaccgagc gccacgccac gcccgctgca cctgggcttc
      421 ctctgcgagt acgacgcgct gcccggcatc ggccacgcct gcggccacaa cctcatcgct
      481 gaggtcgggg cggcggccgc gctgggcgtg aggggggcct tagagggcct ccccaggccg
      541 cctccgcccg tgaaggtagt tgtcctggga acccctgcag aagaagatgg tggtggcaaa
      601 attgatttaa ttgaagcagg ggcttttaca aatcttgatg ttgtttttat ggcccaccca
      661 tcacaagaga atgctgctta tctaccagat atggctgaac atgatgtgac tgtgaaatac
      721 tatggaaaag catctcattc tgcttcttat ccctgggaag gattaaatgc attagatgct
      781 gctgtgctgg cctataacaa tctgtctgtg ttcagacagc aaatgaaacc aacctggaga
      841 gttcatggta taataaaaaa tggtggtgta aaacccaata tcattccctc ttattctgaa
      901 ttaatctatt acttccgtgc accctcaatg aaagaacttc aagttttgac caaaaaggca
      961 gaagattgct tcagagctgc agctttggct tcagggtgca cagtggaaat taaaggtgga
     1021 gcacatgatt attacaatgt tcttcccaat aagagcctat ggaaagccta tatggaaaat
     1081 ggaagaaagc taggaataga gttcatttca gaagatacaa tgttgaatgg cccttcagga
     1141 tctacggatt ttggaaatgt tagttttgtg gttcctggaa ttcatccata ttttcacatt
     1201 ggatctaatg ccttgaatca tactgaacag tacactgaag ctgctgggtc acaggaagct
     1261 cagttctaca ctctgcggac ggccaaagct ctggcaatga cggcactgga tgttattttt
     1321 aaaccagagt tactggaagg aatcagagag gactttaaac tgaaacttca agaagaacag
     1381 tttgtaaatg cagtagaata aaagacttag gggccactta taaatcaaga agacgtgatg
     1441 atttttttct tttaatctct tttaatgaag gcatgcttgt tttttaatct taaaggagta
     1501 aaattctttt tacctgataa gtgaggacag ggtgtggaga aaacatatta attacctcat
     1561 atctaaagtg aaaatttttg caaatccgta cttgatagga ttatgatatt acaggagctg
     1621 gtatgtgatg ccattctttc ttttttttta ccccgcaacc actcaccttc acagtagtga
     1681 taccatttct taacctggag gatacatggc atcattttta taaaatatgt tagtaaacct
     1741 ttttgtaagc cttaaatgtt atgtgtattt ttaaaagctt aagagatttc aaaccttata
     1801 ttcagaattg acacccatga gagtgttttg tggtataggg tggtaaactt gttctctaat
     1861 cgtatattaa ttcctctacc agattgtata tttgaagcca gtgtctttcc tttttttgtt
     1921 ttaagataga gcctcgctct gttgcccagg ctgaagtgta gtggcacaat ctcggctcac
     1981 tgcaacctct gcctcccagg ttcaagtgat tctcctgcct cagcctacca agtagctggg
     2041 attacaggtg tgtggcacca tgcccagcta atttttgtat ttttagtaga gacggcattt
     2101 caccatgttg gccaggctgg tctcgaactc ctgacctcag gtgatgcacc tgcctcggcc
     2161 tcctaaagtg ctgggattac aggcatgagc caccgcaccc ggcctgccag tgtcttttta
     2221 atacacatgt gtgttggtat ttttaaattg ttacagtatc tagcatattg cttactctga
     2281 atattcagta ctttttgaat aagcaaatat tgcttccttg cttggaatca tcagagttta
     2341 aagtagcttc gtggatggac catgatccta agatgagttt taattttgtg tttacagtca
     2401 tctcttgtac aacgtggaga agaaaagata tacttactac tttgcttcag gtacacataa
     2461 gaaaacctct tttttaaaaa aatttttatt tttttacata atagagacag gggctcgctg
     2521 tagcttccag gctggcctca aactcctggg ctcaagcaat cctcctgtct tggcctccca
     2581 aagtgttggg atttcaggta tgagacacca cacctgccca tttttgtttg gttttttaat
     2641 gggcaggttc ttgctctccc aggctggagt gcagtggtgt aatcacagct cactgcagtc
     2701 tcgaactcct ggactcaagc agtcctccca cctcagcctc ctaaagcact gggattacag
     2761 gcttgaggca ctgcacctgg ccctgaccat tttttaaaaa ggttaggctt agtgcaaagt
     2821 ttaaaattat atgattctta aaatactgaa ttagtttcta aactaaacta gaggtatagg
     2881 tggacctgct tgaggtatct ttgtttttat ggaacatttt tattacatgc ctttataatt
     2941 tttcattgtt cacaccctgt actgaaacct ttttctcaaa taccaactct tggctatgtt
     3001 aaatttgtag actttaaaag atgttatcta aattaatggt ttaaatatac aaattgaaaa
     3061 tattttcttt ttagtggcaa ttttaaaagc aggccttaat atgggacctg cttttaaagt
     3121 aaaatatgtg gtactatgaa ttactaaatt gctatatacc atgtaatagt gagtatagct
     3181 aatatttagt atgcctttta aaaattttgg actgcttttc ggttttaaca aattctccac
     3241 atgtgaacta ctcaagaaat tttccctttt taattgcctc tatagcactc ataagagcta
     3301 gggcattagg ataaactaga atattttatg tttatgaata cttgtataaa cttaaaagtg
     3361 ttttgatttc ccacaatttc ccaaaggaat gtttatttat taagagttgt gttgataatt
     3421 taactgttac aatttcagca gttgaattca gtgaacactg gttgaggagt gcctatttct
     3481 aagcactggg tgtaagaaga aaagacactt gcaaaggaag agctaagatt aacataattt
     3541 ctttggtttt tctattgctt gttattatta tgtaaaaact gggtggcagt tcacaaggaa
     3601 gattgttgta acagaagagt gacaaccaat agttttttga tcattaaatc aaattttgta
     3661 aacagtggca ggagcgtgga cttaaaacaa ggcttgctta tttggttttg tcaaagtttt
     3721 acgaaaatat atgatatata tttatactaa aactatataa tccttagatt taggaaagca
     3781 atcagttaat gtctttagca cactaaagca gtattaaaca caggtacaag ttggaaattg
     3841 tagaaaactg aaagaaaaca agacaaaatg tctatggtag ggaataaaag agtttaagat
     3901 attatgtaaa attatgtgta ttttcttctc ttttacataa attgtttgtg aaaagtgtgc
     3961 tcaacttttt tacaagagtg atattaactt ggatttattt ttcaatataa tttggagacc
     4021 ctttgttatc caaataaaat tgatgagttt ctgtgcctgt aaaaaaaaaa aaaaaaaaaa
     4081 gaaaagaaaa gacactgttg catgccccag aaagcttgtg gtgggtggta agttctcacg
     4141 agatttattt atctgagcaa cattgggact gagggaacat ctgaaagcta ccatcttgaa
     4201 aatttttgag gaagtgtttc tgaaatattt aaaaatactt aagtcagtca ttttgaacaa
     4261 aagaaattga tacaataagt tttttttttt aaggatgatt gtctaatttt gtaatatgtt
     4321 gttttttaaa aacctgtctg atggtgtttt atacatttct aactttttac ctgagttatc
     4381 tctttagtct tttggaaaat accctacaca atactaacct ttaaaactat caaatttttg
     4441 ttataagata aatgttatct ttgtactaga tagcaaccct ttataaggtt gtaaggtata
     4501 ataaactgct tattttttta catacttcat atcaagcatt ttgcagtcca attatatagt
     4561 tgaggatggt gtattttgat atgtatgaag ttaatatttt caagtaagca atcagtctac
     4621 taccatcaga ttataagctt ttttgtaata ataggtacat aaaatgtgta tgaaaaatct
     4681 acaataaaca tgtttatctg ata
//
LOCUS       NM_001010854           19471 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), transcript
            variant 1, mRNA.
ACCESSION   NM_001010854
VERSION     NM_001010854.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 19471)
  AUTHORS   Eno CC, Graakjaer J, Svaneby D, Nizon M, Kianmahd J, Signer R,
            Martinez-Agosto JA and Quintero-Rivera F.
  TITLE     14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A
            new potential cause of developmental and language delay in three
            unrelated patients
  JOURNAL   Am J Med Genet A 185 (5), 1519-1524 (2021)
   PUBMED   33634591
  REMARK    GeneRIF: 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and
            RPS6KA5: A new potential cause of developmental and language delay
            in three unrelated patients.
REFERENCE   2  (bases 1 to 19471)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 19471)
  AUTHORS   Baskin JM, Wu X, Christiano R, Oh MS, Schauder CM, Gazzerro E, Messa
            M, Baldassari S, Assereto S, Biancheri R, Zara F, Minetti C,
            Raimondi A, Simons M, Walther TC, Reinisch KM and De Camilli P.
  TITLE     The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P
            synthesis at the plasma membrane
  JOURNAL   Nat Cell Biol 18 (1), 132-138 (2016)
   PUBMED   26571211
REFERENCE   4  (bases 1 to 19471)
  AUTHORS   Nakatsu F, Baskin JM, Chung J, Tanner LB, Shui G, Lee SY,
            Pirruccello M, Hao M, Ingolia NT, Wenk MR and De Camilli P.
  TITLE     PtdIns4P synthesis by PI4KIIIalpha at the plasma membrane and its
            impact on plasma membrane identity
  JOURNAL   J Cell Biol 199 (6), 1003-1016 (2012)
   PUBMED   23229899
REFERENCE   5  (bases 1 to 19471)
  AUTHORS   Krug T, Gabriel JP, Taipa R, Fonseca BV, Domingues-Montanari S,
            Fernandez-Cadenas I, Manso H, Gouveia LO, Sobral J, Albergaria I,
            Gaspar G, Jimenez-Conde J, Rabionet R, Ferro JM, Montaner J, Vicente
            AM, Silva MR, Matos I, Lopes G and Oliveira SA.
  TITLE     TTC7B emerges as a novel risk factor for ischemic stroke through the
            convergence of several genome-wide approaches
  JOURNAL   J Cereb Blood Flow Metab 32 (6), 1061-1072 (2012)
   PUBMED   22453632
  REMARK    GeneRIF: associated with IS risk in the Spanish and combined data
            sets. Multiple independent lines of evidence therefore support the
            role of TTC7B in stroke susceptibility
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.278006.1,
            SRR1803614.30207.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000328459.11/ ENSP00000336127.4
            RefSeq Select criteria      :: based on expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL122020.5, CB988671.1, BG489583.1, BQ426031.1, BX248275.1,
            BC035865.2 and AL096869.8.
            On Nov 22, 2018 this sequence version replaced NM_001010854.1.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..19471
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.11"
     gene            1..19471
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="tetratricopeptide repeat domain 7B"
                     /db_xref="GeneID:145567"
                     /db_xref="HGNC:HGNC:19858"
                     /db_xref="MIM:620060"
     CDS             136..2667
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     tetratricopeptide repeat domain 7 like 1; tetratricopeptide
                     repeat protein 7B; TPR repeat protein 7B; TPR repeat
                     protein 7-like-1; tetratricopeptide repeat protein
                     7-like-1"
                     /codon_start=1
                     /product="tetratricopeptide repeat protein 7B isoform 1"
                     /protein_id="NP_001010854.1"
                     /db_xref="CCDS:CCDS32140.1"
                     /db_xref="GeneID:145567"
                     /db_xref="HGNC:HGNC:19858"
                     /db_xref="MIM:620060"
                     /translation="MATKKAGSRLETEIERCRSECQWERIPELVKQLSAKLIANDDMAE
                     LLLGESKLEQYLKEHPLRQGASPRGPKPQLTEVRKHLTAALDRGNLKSEFLQESNLIMA
                     KLNYVEGDYKEALNIYARVGLDDLPLTAVPPYRLRVIAEAYATKGLCLEKLPISSSTSN
                     LHVDREQDVITCYEKAGDIALLYLQEIERVILSNIQNRSPKPGPAPHDQELGFFLETGL
                     QRAHVLYFKNGNLTRGVGRFRELLRAVETRTTQNLRMTIARQLAEILLRGMCEQSYWNP
                     LEDPPCQSPLDDPLRKGANTKTYTLTRRARVYSGENIFCPQENTEEALLLLLISESMAN
                     RDAVLSRIPEHKSDRLISLQSASVVYDLLTIALGRRGQYEMLSECLERAMKFAFEEFHL
                     WYQFALSLMAAGKSARAVKVLKECIRLKPDDATIPLLAAKLCMGSLHWLEEAEKFAKTV
                     VDVGEKTSEFKAKGYLALGLTYSLQATDASLRGMQEVLQRKALLAFQRAHSLSPTDHQA
                     AFYLALQLAISRQIPEALGYVRQALQLQGDDANSLHLLALLLSAQKHYHDALNIIDMAL
                     SEYPENFILLFSKVKLQSLCRGPDEALLTCKHMLQIWKSCYNLTNPSDSGRGSSLLDRT
                     IADRRQLNTITLPDFSDPETGSVHATSVAASRVEQALSEVASSLQSSAPKQGPLHPWMT
                     LAQIWLHAAEVYIGIGKPAEATACTQEAANLFPMSHNVLYMRGQIAELRGSMDEARRWY
                     EEALAISPTHVKSMQRLALILHQLGRYSLAEKILRDAVQVNSTAHEVWNGLGEVLQAQG
                     NDAAATECFLTALELEASSPAVPFTIIPRVL"
     misc_feature    424..528
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TV6.3);
                     Region: TPR 1"
     misc_feature    613..615
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86TV6.3); phosphorylation site"
     misc_feature    739..741
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:E9Q6P5; propagated from
                     UniProtKB/Swiss-Prot (Q86TV6.3); phosphorylation site"
     misc_feature    790..891
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TV6.3);
                     Region: TPR 2"
     misc_feature    1222..1323
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TV6.3);
                     Region: TPR 3"
     misc_feature    1324..1425
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TV6.3);
                     Region: TPR 4"
     misc_feature    1570..1677
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TV6.3);
                     Region: TPR 5"
     misc_feature    1681..1779
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TV6.3);
                     Region: TPR 6"
     misc_feature    1780..1881
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TV6.3);
                     Region: TPR 7"
     misc_feature    2008..2010
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:E9Q6P5; propagated from
                     UniProtKB/Swiss-Prot (Q86TV6.3); phosphorylation site"
     misc_feature    2020..2022
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:E9Q6P5; propagated from
                     UniProtKB/Swiss-Prot (Q86TV6.3); phosphorylation site"
     misc_feature    2023..2025
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:E9Q6P5; propagated from
                     UniProtKB/Swiss-Prot (Q86TV6.3); phosphorylation site"
     misc_feature    2152..2154
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86TV6.3); phosphorylation site"
     misc_feature    2164..2166
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86TV6.3); phosphorylation site"
     misc_feature    2167..2169
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q86TV6.3); phosphorylation site"
     misc_feature    2176..2178
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86TV6.3); phosphorylation site"
     misc_feature    2221..2322
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TV6.3);
                     Region: TPR 8"
     misc_feature    2323..2424
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TV6.3);
                     Region: TPR 9"
     misc_feature    2428..2526
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TV6.3);
                     Region: TPR 10"
     misc_feature    2527..2628
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TV6.3);
                     Region: TPR 11"
     regulatory      3426..3431
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="hexamer: AATAAA"
     polyA_site      3447
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="major polyA site"
     regulatory      19450..19455
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
                     /note="hexamer: AATAAA"
     polyA_site      19471
                     /gene="TTC7B"
                     /gene_synonym="c14_5685; TTC7L1"
ORIGIN
        1 agccggcgct cccgttacgc cgcggagccg ggagccggag cccgagcccg cggcggcggc
       61 gggaggcggc gagggggcgc cgcggcggcg gcggtggggc ctgcggggcg ggcggccggg
      121 cccggccagg ccgcgatggc gaccaagaag gcaggctcgc ggctggagac ggagatcgag
      181 cgctgccgct ccgagtgcca gtgggagcgg atccctgagc tcgtcaagca gctgtcggcc
      241 aagctcatcg ccaacgatga catggcagag cttctcctcg gggagtcgaa gctggagcag
      301 tacctgaagg aacaccccct gaggcagggg gccagtcccc gaggccccaa gccccagctg
      361 actgaggtcc gcaagcatct gaccgccgcc ctggaccgag ggaaccttaa gtcagaattc
      421 ctacaagaat ccaatctgat catggccaag ttgaattatg tggaaggtga ttataaagaa
      481 gctctgaaca tttacgcccg ggtgggcctg gacgatctgc cactgacagc tgtcccgccc
      541 tacaggctgc gggtgatcgc agaagcctac gctaccaaag gactttgttt ggagaagctg
      601 cctatttctt cttctaccag taatctccat gtggaccggg aacaggatgt catcacctgt
      661 tatgagaaag caggggacat cgcactcctg tatctccaag agatagaaag ggtaatactt
      721 tctaatattc aaaacagaag ccctaagcct ggccctgctc cccacgatca agaactaggt
      781 tttttcctag aaacaggact tcagagagcc catgtcctct atttcaaaaa tgggaacttg
      841 acaagaggag tcggaagatt tagagagctt ctcagagcag ttgaaacaag aacgactcaa
      901 aacctgcgaa tgacaatagc caggcagctg gcagagatct tgttgcgggg tatgtgtgag
      961 cagagctact ggaaccctct ggaggatcca ccgtgccagt cacctctgga cgatcctctc
     1021 cgcaaaggag caaacacaaa aacctacact ctcactcgga gagcccgtgt ctactcagga
     1081 gagaacattt tttgtcctca agaaaatacg gaagaagccc tgttgttatt gctgattagt
     1141 gaatcaatgg ccaaccggga cgctgtgctg agcaggatac ctgaacacaa gagtgaccgc
     1201 ctcatcagtc tgcagagtgc atctgtggtc tatgacttac tcaccattgc tcttggaaga
     1261 agaggccagt atgagatgct gtcagagtgc ctagaaagag ccatgaagtt tgcctttgag
     1321 gaattccacc tgtggtacca gtttgctctg tccctgatgg ctgctggaaa atctgcccgt
     1381 gccgtgaagg tgctgaaaga gtgtatccgc ctgaagccag acgatgccac catccctctc
     1441 ctcgctgcca agctctgcat gggctccctg cactggttgg aagaggctga aaagtttgcc
     1501 aaaactgtcg ttgatgtggg agagaaaacg tcagagttca aggccaaagg ctacttagct
     1561 ctggggctca cgtacagtct gcaggccact gacgcttctt tgcgagggat gcaggaggtc
     1621 ctacagagaa aggcgcttct tgcatttcag agggcccaca gcctgtcacc cacagatcac
     1681 caagcagctt tctacctggc tctgcagctt gccatctcca gacagatccc agaggctctg
     1741 gggtatgtcc gccaagctct tcagcttcaa ggtgacgatg ccaactccct gcacctcctt
     1801 gccctcctgc tgtcagcaca gaagcattac catgacgctc tgaacatcat cgacatggcc
     1861 ctgagtgaat acccagaaaa tttcatacta ctgttttcca aagtgaagtt gcagtcactc
     1921 tgccgaggcc cggacgaggc actgctgact tgtaagcaca tgctgcagat atggaaatcc
     1981 tgctacaacc tcaccaaccc cagtgattct ggacgtggga gcagcctctt agatagaacc
     2041 attgctgaca gacgacagct taatacaatt actttgccag acttcagcga tcccgagaca
     2101 ggctccgtcc atgccacatc ggtagcagcc tcaagagtgg agcaggcact gtcggaagtg
     2161 gcttcgtctc tgcagagcag tgcccctaag cagggcccgc tgcacccctg gatgacgctg
     2221 gcacagatct ggctccatgc agctgaagtc tatatcggca tcgggaagcc tgcagaagcc
     2281 acagcctgta cccaagaagc tgccaacctc ttcccaatgt cccacaatgt cctctacatg
     2341 cgcggccaga ttgctgagct ccggggaagc atggacgagg cgcggcggtg gtatgaagag
     2401 gccttagcca tcagccccac ccacgtgaag agcatgcagc gactggccct gatccttcac
     2461 cagctaggcc gctacagtct ggcggagaag atcctccggg acgcggtgca ggtgaactcg
     2521 acagcccacg aggtctggaa cgggctgggc gaggtcctcc aagctcaggg caacgatgcg
     2581 gcggctacgg agtgcttcct gacagccttg gagctggagg ccagcagccc cgccgtgccc
     2641 ttcaccatca tcccccgcgt gctctgagca ggcgcctgcc agcctcacct gccgctcagg
     2701 cctcagaggc cctgccgggc accagggctt gtgccatcgc cccaagggga tgaatctgcc
     2761 acactgaggc cagggacgag tgttcagtgg gccacagtga accaaccaaa ccaaccccga
     2821 atcatcgctc tcgccatgtg cgtttctctt gttttttttg ccagcccaat ggtagtttct
     2881 gaacctattg acattgttca aaatggatca tgtgccatat tttgttagtt gacatctgag
     2941 ttttcagtaa aatgattatg gaattaatca gcaaatgtag aagaatatat tcaaagttaa
     3001 aattcagtgg cagcacagat tatttttatc agagctgtaa agaaaacaac tgtccttttc
     3061 tccccaccac ccctcctgcc ccactttggc ccagaaacca aatgtgaact tcctgtctcc
     3121 cacctcagca ctagtccatg ccaggacacc agctgacaat ttcttggttt tactgtcaat
     3181 aattgtacca tgtgatcaat tactgtcctc acttagaaca aagcctgagt ccgagaatat
     3241 ttatatttta ccaatatatg cctgttacaa gagaaggaaa tatgagttat ttaagtttaa
     3301 cttttttatg tgaattcaga gtttatttat cgagggaaat atgtacaaag aagcttcaaa
     3361 tggaatattt accgacattc cttatacatg acagacactt ggctacatgg gaagatgatg
     3421 ttaataataa aatgattttt aaatggactc atagcctgtg tcattcgtaa aagctcaaag
     3481 acctgagaaa ggcttagttc ctggggtggg gagctgtctg tacctggggg cccactctgg
     3541 acatgtcagc ccttgacact agaaagccca gcctctcttt ccccacttat tttattttta
     3601 ttttttggag acagggtctc actctgtttc ccaggctgga gttcagtggt gcgatcacag
     3661 atcactgcag cctcgacttc ccaggttcag gtgatcctcc cacctcagcc tcctgagtag
     3721 ctgggatcac aggcgcacac tagcatgccc ggctaatttt gtttgtttgt ttttgtagag
     3781 acgggatctc actgtgttac ccaggctggt cctgaactcc tggactcaag cagccctccc
     3841 gcctcagcct ccgaaagtgc tggtgtgagc caccatgccc ggccatctcc tcacttataa
     3901 tttgaagatg atccctaggt agggacgtgt ttcctgcgtc ctcagcaccc aggcctcctt
     3961 tttgcagcaa cagccctggt tttggtttgg gaattcgcct tagctctccc ccgatggggc
     4021 tttggaattg gagcatgcaa ttcagtcctg cccaagcagc ctcctgcact catgggccac
     4081 agagggtcag gagtgagcat gtgacctaaa gcggtccagt cagagcggga gccacagaga
     4141 aggctgtcgc tctttcctgc tgcctttcaa gctgagaagt gaggctggaa ctgcagcagc
     4201 cctcttgcca ccatgagaag aaggtgtaga ggtgtttgag ccaaagtccg aatcccacag
     4261 agtagacagc aagatccgga accagagaga aactgagcag gtatctgcag tctctcaggg
     4321 acagctgtag ggtggcccca cctttccagg acacagggaa atatggaggg ctgagctctg
     4381 aacttaggtg ccctgaagcc tagaggactg cattcaaact gggcacgacc tctctggctc
     4441 actgaggcag gcgggctagg gggcagccaa ggagggagag acagtaggta ggagccccag
     4501 cctcagcact gaccctgcca ggcagcactt gtggctttga gtggtcataa gtcatggaat
     4561 ttgcaatgta ggacctgggg caggtactca gtgtggtggc agcttgccct gattggaggc
     4621 acagggctgg gctctgccat cccatgcggg agcgtggggc aaggcccact ggatcaggac
     4681 caggaaggga ggaggctggg ccaccaaggc agatggtgca ggcgctgtac cagaccttct
     4741 ctgccaggcc ctcacctcag agactcctgt gcgtatcagc cctgcagggc gcgggggctg
     4801 gctcctgtgt gtctgcccgg cacctctcca ttgtcttcat ctccctcagg gaaccacccc
     4861 cactctccac ccacatggct caaggatgga cacatgggcc cagccttaac aaccagagcc
     4921 ctccagctcc ccagtatcag tgactggttt gggtttgggc atgtgaccca tgcttggcca
     4981 atgagaagca cccctgggac ttttgttatg aaaacattag aaaaaaagcc tctttctgct
     5041 gggtttgatg tcctaatagg atgccagtgg ggggctgtgg gtgccatttg acattatatg
     5101 gggtggcctg cctgagaatg atgccaacac agaaaaagag aatgaggagg tggaaagaga
     5161 gccgggcccc gggtcaccgc tggagcactg cggcccgaga tttttccatc ataggaatcc
     5221 atacagtttc ccatcttgct tagtgcaagc acaggggttt ccatcacttc tacctaaaag
     5281 gtacctaaga aatgcaggaa agtcctgccg tccttggtac tccccccttg ggcactcttc
     5341 cagactcctc agtcccccac cttaatccca ctcacccacc tcatattctg ttttccagta
     5401 aatcttgtct tttctaccca aatcgcatct caaatctctc ccattcaact tcatccccag
     5461 taccttggcc ccagccccac acagtccaat gtctgcacag tcctcttaga agggaggatt
     5521 gagtcggttc tctctataaa cccctgatgg cttctcaagc ccttgcctgg aaccagactc
     5581 tgtgtcccag ccccctgtgt gcctggctgc ctctccttcc ccaagccctc tcatggctct
     5641 ggccttcttc ctagtcttct gacctgctga gcctttccca actaaggaca ttcatccatc
     5701 cgtccatcca tccatccatc cattcatccg tccacccgtc cgtccgtccg tccatccatc
     5761 catccatcca tccatccatc catccatcca tccgtccatc cattaataga tgaggacgca
     5821 gacgctagac actaagacgg caggacacct gcctggggtc attgtggaat tacctggcag
     5881 aactaagatt gagacaggcc tgagggataa acatttcaaa agtgcccagg tctgcccagt
     5941 ggaggcattt tttggacagt gagatgcagg agatgccgcg tttgattcca ggactagtgc
     6001 tgaccctaac ttaggcaagg cgttcctgtt ccctggtctt agtctcccca tctgtgaaat
     6061 ttcattcatt cattcactca ttcattcatc caacaaatat ctatggaatg ctcacaacat
     6121 gccagatgct tattccaggc actgagggca cagcaatgtg tgacacagat gctgcatcca
     6181 cttaggacct accttctggt agaaggaaac agacagatga ggagtatggc aggtggggtg
     6241 acgcatggag aaagatgaag ccagggaagg ggtgtaggga gtggcagggc tgctgtttag
     6301 aaggtgacta gggaagcctc gctaagaagg tgacatctgg ctgaagaaag acaggtaacc
     6361 tgggaggagg acatctcagg aagcaggaac agcaggtgca aaggcccaga ggggaggggg
     6421 atggtcaggt ggtgaaggat gagaagaggt cagaagttta acaggggcca cacaggtgcg
     6481 gcctcgtgga ccatgctaac agtgtatatt aattgcctgt ggttgcagca aattaccata
     6541 aactggctgg gcatggtggc tcctgcctgt aatcccagca cttagggagg ctgaggcagg
     6601 agaatcagct gaggccagga gttcaagacc agcctgggca acatggtgag accccccccc
     6661 catctctaca aaaaaaaaaa aatagccagg tttggtggcg tgcacctgta gtcccagctg
     6721 cttgggaggc tgagatgggc tgattgcttg agcccaggtg gttgaggctg cagtgagtga
     6781 tcacgccacc gcagtccagc ctgcatgaga gagcaagacc ctatctctac aaataaaata
     6841 aattaaaaat tttaaatgac cgcaaactta gcgtcttaac acaaatttat tctctttgtt
     6901 ttggaggtca gaagtcaaat caagctttca gtggggctgt gctccttccc caggctctgg
     6961 aggaggacgg gtgtccccgt cttctccagc ggctagaggc ttcctgcggc cttggctcgt
     7021 ggccacctca cgtcaccttt ccttcctctg ctccgtcact gcgtcacctt tctgcctttg
     7081 acctcctgcc tccctctaag gactctgctg gttgctctgg gccccctgga tagtccaggg
     7141 ccattgcccc acctcgagag ccttcgttca atcacatctg catcgctcca tctgtcatgg
     7201 aaggcaacat agtcacaggt tccagggctc gggatgtgga cgtctttgag gggcaggggg
     7261 agcacgttat tctgcaggcc gcagcgtggg agctgggagg ctgtcaggct cctgctgtca
     7321 cacagcgacc atggtgctta gaccaagggg cgtggaggaa gtggcgagag gcactggact
     7381 gtgaagattc tgaagacaga gccaagaggg ttgctcacac atggagctgg gtgtgaggga
     7441 ggggagacgc cagggatgag ggtgagggtc ttgtcctgag ctactggaag gatggcgatg
     7501 atggccagga aacaggaaga ataggttggg gaggagagga gaaggcagga gtctgctttc
     7561 aggcaggttg aatacaaaat gcctgtggag cctctgaggg ggaggcagct ggctgggcag
     7621 gagcccaggc gagagcccaa gatgaggcga gagtgtggga ggtgtcaggg atgcggggct
     7681 gggagccatg ggcctgacgg ggccacttcg ggacaagcat agacaaagag gaagaggtca
     7741 gggctgagct ccggggctgg cggggtttac aggctgggaa atgaagagat caggaaagaa
     7801 ggcgcaggag cagctgcaag ggaggcggag agcaggcagg gtgagcttcc tggaggaggt
     7861 gggtgggctc tctcaatgcc tggagacccc gtcagggtgg cctgagagct gaccgtgggc
     7921 ctggtggtgt gcaggttggc agtgaccttg accagagcca tgctggggat gcagttttgc
     7981 tcccccagat tcatagggtg gagcccccgc ccctgtgtga ctatatttgg agataggccc
     8041 cttaaggaag taattcaggt gaagtgaggt catcaggagg ggccctggcc cagtaggatt
     8101 ggcgtcctca ccagaagaaa ctctaaagtg caagtgagct cacgctcagc cacgccagga
     8161 cacacggaga aggcggccac ccgcaagcca ggagggagcc tcacaggaac ccagatgggc
     8221 tggaaccttt gctttgttct ttgaacctcc aggactgtga gaaattaagt tcattgttga
     8281 agccacctgt ctgtggcggt tttcttacgg cagcccaagc tgactaaggt ggggtcaagc
     8341 caggttggag tgggctcaag ggggaggaaa aggtgaagtc tctttcaaga gcgtagctgc
     8401 agaggggagc tgagaacaca ggttaggagt ccggtgggga aggggccgtg ttgagtgttg
     8461 aaggcggcct cgctgagcac cttgtgtttc cagcagggca ggcgtgagga aggagagagg
     8521 gaagctgagg ggggctgcct tggctggggg cctggtggtt ccccagagca gcagcagcag
     8581 ggaggcagag gcctgggtac ccccaagcca gggagccctg gggacggggc acccactcct
     8641 cagtgagcag ggagccaact tcgggcaggg tggggtggcg aatggaccag gaagggaagg
     8701 aggaggcaga ggagggagga ggcccttctt tgaaggagcc gccccactca gccaagagga
     8761 tctcaggaca gagccaggct gggggcctgg gcaggtgtgg ccggggcagg ccacttccca
     8821 tccccagccc catttgggat ccatgggctc gtctgtctgt ctctctgcct ccttccaggt
     8881 cctgggccct gggctgtggc cagggctctg ctcaccctca gggctgcgtg gggacctccc
     8941 tcggtgggga aaggagggaa ccaaggcctc ccgttatcct ccatgccccc tacctgtggt
     9001 catggcctgg gggaggtgca tgctcgtgca caggtgggcg tgtctgtgat cacatggagc
     9061 aacccagact cctccagatg gccccacgca tctccccggc ggccacacag tcatcattgc
     9121 gggcccagac tctctgcctg caggaagtcc cccctttgca ggcaccctcc ccatcatcct
     9181 tggagttctc cacgtctgcc ctgtccgtgc tgggcctgtc accagcctgt cacctgctgc
     9241 cccagcccca gcccaggtcc ctgcagcaca gccggctcca ggctggaatg ggtgacccgg
     9301 ccctactgaa ggaatttcag ggcagggtca gccactctgg ccactgtctc cctccaatgc
     9361 ccccataccc tcccagcgct cggcccctgc cactcggccc cctctctcca tatcgccacc
     9421 ttctcattcc tgctcctccc ccaccacctc tcaaggccga cagggtgggc attgcccagt
     9481 gaggggacac cactcatatt gaagttctgt aaactgtgtc ttgggcactg taccaggtgg
     9541 ctgctcccat ccctccccta gcgtctgctt gccctgtcca tcctgcctac tccagaagca
     9601 gccacacact tgaccataag cctttgaggc ctggccggag tcctccgggg gaggcgggca
     9661 gtagcagccg cactgggcct gaggacccca cacaggaaaa tgggccgagc cccagggctg
     9721 agccttaggg ctgcggccgt tcccgccact aacattcctc ccacacttgt ggtcatgcat
     9781 ttcctgctgc ccctgcccac gctgcagcca gataggaaca gaaaaaggac atcctgcacc
     9841 atttcagaca ggaatgtgct cctcctgaag gtcttttggg ggccaggctg aggccccccc
     9901 tcaaggtcac accgtggggg acccactcca gctctgcacc tgctgggggt gatcctcact
     9961 gtgccactgt ccctccctgg actcagaatc agatgaggac agtcacctct gcccagcctg
    10021 ccttctgggc tgagatgtga gtctgcaggc agctgtcaga ggtggtgtgt gccaggtagg
    10081 ggacacgagg gctaccgccc ctcaggacca ccacacaggg cctcagggcc aggccagcag
    10141 gcaggactcc tcctggacac tcaagccctg agtggggctg actatggaga ggtggcagga
    10201 aggtggtggg ggatcttctg caggtctgcc tggagccagc agctcccgct gaccatccgg
    10261 gccacccaca gcccccacca ccctcctcgt ctccctcatc ttctgctgtt tggcccttga
    10321 ccccctgagg acaatagggt ttcctggtga ccactgggct gtgggtcaca cagatctggc
    10381 tggaatccca gttctgcctg gccgtgtcac ctctgatggg gaagcactct gtctcctcat
    10441 ctctatggtc ggggagtaac ttcccttacg ggcttttggg gatattaaca gaggtcaacc
    10501 tggacagggc atggggcccc cggggtgcac cataaagtct ttccttcttt cttctatcct
    10561 caggcgaggg gtgagtggct gctgggacgt gctgaggggt ccctgaagca gggcaggaag
    10621 ggcagagcta gctgcagctg aggcagagtc cgagtcccgc tctgcatgga ggaggaggtg
    10681 aggggcctgg tcagcatggg catggctggg ggcctctgtg accgccacca ctcttgtctt
    10741 tgcctccttg accccacagg gtcatcctcg ggccctgggt ccagccaagg cctgaggagg
    10801 gtcatgcatc cctgtcccac ttggtcacag cacaggaggc tcccatccgc cactgcctga
    10861 ggcggtgcct gtggcccaag ggctcgggtt gtgggcctgc tgggctggag cctgcatcgg
    10921 gacctggcca cctactctcc taggagcctt aggtgagtca ctagtcctct ctgagcctcg
    10981 gtttcctcat ctgtgaaatg gggagaacaa ggtggttgta aagattcaga gggtgtgtaa
    11041 aacacaagca catggccgag cacagcccag ccctacccct gcatggctcc tcccccgggc
    11101 atggcaggag gtcagggttt ccagcctgag cttagcctgc cattcagcag tacccaggaa
    11161 ggcacagcta ccaggaaaat gacctcccca agcccatgga ggcttcctga gcacccagcc
    11221 cagcctgaac ctccacccac ccaggtggca gtgaggcctt cctgcctgtg ttcagccacg
    11281 gtgtatcaag gacccctggc cagacacagg tacctgggct ggggagctgg tggtcttatt
    11341 ggggactggg aagacagacc ccaaacagag gggtaaacaa ataagataat taccagcttg
    11401 gcagatgatt agagcaaatt tgaagtgaca gggggagggt tactttagat tggctggtcg
    11461 gggacacctc tgtaagacag tgacattgag tgacaagaag gtgcccaccc tggaggacac
    11521 tgggcttctt cacctttaag agggatggtg agcagaagcc caaaagcgtc aggttctgcc
    11581 actttgtacc agatgactag gcccagccag tttgcaaaag ggctggccca tcctcacatt
    11641 ggcccatcct cacattgcca gcaaggacca gaccatgtga agagggaaga gcatcctgta
    11701 atgtacaaat aggggatcaa ctttaaatta tctccagagt ttctttcttt aatatgttgt
    11761 ccaaaggtaa ctatgttaat ttttacaaat atttttatgt agttttatat agttttacaa
    11821 atagttttat gtagttttgg tttttatttg tttgtttttg ttctacttga gatggggtct
    11881 tgctctgtca ccgaggctgg agtacagtgg cacgatctca gttcactgca gcctccacct
    11941 cccaggctca agtgatcctc ccacctcagc ctcctgagta gctgggacta cagatgccaa
    12001 gccccactaa tttttttcag agacagagtt ttgccatgtt gcctaggctg atctccaact
    12061 cctggtctca agtgatctgg tcccctcagc ctcttaaagg tctgggataa caggtgtgag
    12121 tcagtgtgcc tggcctatgt agcagttttt aaaactacaa aattaaataa gaaaggggca
    12181 gagctcagac acaatgagac ttttcagtcc agtgttttca gattctctgg ctttcaactt
    12241 tacaatttca cttcaaaaat ttcaacttca aatttcactt cattgctttc aaaatcttga
    12301 gccagcttgt cctttggatc tggactgtgc ctgtctgcac tggcagatgg acagagctcc
    12361 tgtatagaaa tgaagccagt tcacccacgg cttttttttt tttttttttt tttttgagaa
    12421 ggagtttcgc tcttgttgtc caggctggag cgcaatggca caatctcgac tcactgcaac
    12481 ctccgcctcc tgggttcaag ctgttctcct gactcagcct cccgagtggc tgggattaca
    12541 ggcatgcgcc atcacgtcca gctgattttt gttttttgtt ttttttttgt ttgttttttt
    12601 gttttgtatt tttgattttt tgtgcttagt agagacagag tttcaccatg taggtcaggc
    12661 tggtctcgaa ctcctgcttc aggtgatctg cccgcctcag cctcccaaag tgctgggatt
    12721 acaggcgtga gccactgtgc ccagctgttt ttttgtttgt ttgtttgttt gtttaagcaa
    12781 gcagcttttt cttttctttt gtgatcgtaa aacctacacc cactgtatca gctgcctgtt
    12841 gctgctacaa caaattgcca caaatatagt ggcttaaaac agcatacaat tttttctttc
    12901 ttttttaagt tataacaata tattttaatc tcataacaac ttcaactgaa tacaaaactc
    12961 tttacatttt cagctattaa tattaaaatt atatcatttt atatcctgta tctattaaca
    13021 gagatttatg cagatttaca ttttgttctt caaattctat agaattttaa ttttttattt
    13081 tcataggtta ttggggaaca cagtggttac atgagtaagt tctttagtgg tgatttgtga
    13141 gattttggtg cacccatcac ccgagcagta tacactgcac ccaataaaac aacgcacatt
    13201 tcctgtctta catgtagttc tgggggtcag aagtctaaaa cgggcctcat ggggcaaaag
    13261 gcaaggtgac ggcagggctg ttctttctgg aagtactagg aaagacatca aactttgccc
    13321 tttccagttt ctcaggggtg tgcttggctc atggccatgt tcactgccgg cagtggcatc
    13381 actccgacct ctgctgtaga gcgatctctg tgactcctcc ttctctgcct ctgaccctcc
    13441 tgtctccctc tttcccttgt aagagcctcc tgattacatt ggtcttacct ggataatcca
    13501 agacactctc cccatctgaa gatccctcat caaatggcat ctgcacagcc ccttttgcca
    13561 ggtaagtgac catcttcaca ggttccagaa agtaggatgc aggcatcttt tgggaccatc
    13621 atttcactta ccatagtcac cttggggaca atttcagaca tacgaagact aagatcatta
    13681 aattccacta tttagcgctc accttctcag cattttggcc tgttgtcttg cagcattctc
    13741 ccatgagtat agattttttt gttttttggg atggagtctc gctcaattgc ccaggctgga
    13801 gtgcagtggt gcgatctcgg ctcactgcaa cctccacctc ccgggttcaa gtgattctcc
    13861 tgccccagcc tcccgagtag ctaggattac aggcacgtgc caccacgcct ggctaatttt
    13921 ttgcattttt agtagagacg gggtttcgcc gtgttggcca ggatggtctt gatctcctga
    13981 cctcgtgatc cgcccacctc ggcctcccaa agtgctggga ttacttacag gcgtgagcca
    14041 cagcgcccag ccaagtatag atatttaatg aagtgaaatc atactatcta taacaccgta
    14101 tggatctttt cacttaatat tctcttgtca gtaaaaatct ttctagataa cttagagaca
    14161 gcataacctc ccctcacatg gatgcactgc agactgttta accctttctt tattgtcaat
    14221 gatttaagtg gtttcacatt gtcatgccac atacaatgga atgggtaatg ccagctcaca
    14281 attattgagc atttattatg caccaatcat tcgacatgta ttaactcatc taatcctcat
    14341 gacagtgcta tgatatgcat acagttatta cggatacagg tccaggtgag aaatgaagct
    14401 ctcttcagaa gatgaacaaa cttgcccaag tttgggtaat actacagcag gccttgaacc
    14461 caggttgcct gactccagaa tccatactct tagccactca catgctcatg ttttctccta
    14521 gcatctctga ttatctatct tagggtagaa ttcggatagg cagaatggca gttcatcagg
    14581 ctatatttat tgagggctta gtttgtgcat tttccatggg ctcactgagt taatcctcat
    14641 gactccaaga agtggtctgt taactggccg aagccacgct ggttggctcc agtagctaga
    14701 ctctgcctgg aacctctgtg tggtagccag tcattagcgg tggtgagggc tacggcctct
    14761 ccctgacaag ctcaccttgc cagacggtgc ccccatgaat gcaaaatgca gtcagatccc
    14821 gctatcggaa agaggtaaca aagcgcagtc aggtcacgcc atcagaaaca ggtaacaaag
    14881 cgcagtcagg tcacgccatt ggaaacaggt aacaaagcag tcaggtcaca ccatcggaaa
    14941 caggtaacaa agcgcagtca ggtcacacca ttggaaacag gtaacaaagc agtcaggtca
    15001 caccatcaga aacaggtaac aaagctcagt caggtcacgc cattggaaac aggtaacaaa
    15061 gcagtcaggt cacaccatca gaaacaaaca tcagaaacag gtaacaaatc acagttgggt
    15121 cacaccacca gaaacaggta acaaagcgta gtcaggtcac accatcggaa atgggtaacg
    15181 aagcgcagtc atgtcacacc atcagaaaca ggtaacaaag tgcagttggg tcacaccacc
    15241 agaaacaacc atcagaaaca ggtaacaaaa cacagtcggg tcacaccatc agaaacaacc
    15301 atcagaaaca ggtaacaaag cgcagtcagg tcacaccatc ggaaacaggt aacaaaacac
    15361 agtcgggtca caccatcaga aacaaccatc agaaacaggt aacaaagcac agtcaggtca
    15421 caccatcgga aacgggtaac gaggcacagt tgggtcacgc catcagaaac aaccatcaaa
    15481 acaggtaaca aagtgcagtc gggtcatgcc atcagaaacg ggtaacgaag cgcactcggg
    15541 tcacaccgtc ggaaacaggt aacaaagtgg gaggtcaagg ctgcagtgat tatgccactg
    15601 caccccagcc tgggagacac agcaagaccc tgcctcaaaa gaatgacaaa aataaaataa
    15661 gttgctctac cactttgcgt ggtcacctgc agagtgtgaa agtgtccact cacaatgtgg
    15721 ccctggttct taactgacca tttggagggt tgtctgtagc cactgaaacc cagactccag
    15781 cttcctccag gctctctgtc cggctggaca gaaggaggag ctggtgctgc tgtttagcca
    15841 gccaggggat tggaggctca cagcagggga gcgtggggct gtcacccatt cctgtttcca
    15901 tggtttgtat gggtaaccgg gaggcagcag gcgaccccat ggctatgtca tccacagaga
    15961 gaaaccttat cacatacgga agctcttatt catacaacat atgccaacct tgtcaaccaa
    16021 taaatgccta tggagccttt actctggatc aagacatcct tccaagtgat ccacccgcct
    16081 cagcctccca aagtgctggg attacaggcg tgagccgcca cacctggctc gccattttcc
    16141 tttagcttgt gatgtgatca taaagtgagt cacatctgcc aggcgcagtg gctcacgcct
    16201 gaaatcccag cactttggga ggctgaggtg ggtggatcat gaggtcagga gatcaagacc
    16261 atcctggcta acacggtgaa agcccatctc taccaaaact acaaaaaatt agctgggcat
    16321 ggtggcagac acctgtagtc ccagctactc gggaggctga ggcaggagaa tggcatgaac
    16381 ccgggaagca gagcttgcag tgagccgaga tggcgccatt gcactcccac ctgggcgaca
    16441 gagtgagact ccatctcaaa aaaaaaaaaa aaaagtgagt cacatctccc tctggatctc
    16501 agtttccttg tctgtaaaaa tggtaaagaa ggttttgact aagtgatccc tgagcctttg
    16561 taactgcgaa tttgctaagt ttagagatta ttaggacttc taccagaggg acagtaacag
    16621 gggtggggtt aagtgaaaca tcaatgtgaa gtgcctggcg tagaagatcc tcagagtcaa
    16681 gtgaagcttg gggagcttca tcactggagt gtgggctgga cttggtgact tgcattcaga
    16741 gagaaggatg tggaaatagg aaaaatagta acattaccac agagaaacct ggcaggacat
    16801 caccttcacc agtcaatgaa ggtcagcatt cccagtgatg agtcgtgtga ataccaggta
    16861 cccccagata tgatggggtg agcagggcac ctcatctctg tggtcttctt cccccaaacc
    16921 cataactcca gtgtaatcat gagaaaacat cagacaaacc caaaccgatg aactttctac
    16981 aaaatacctg accaataccc ctcaaaacta ccaagagcat gaaaaagaaa agtctaagaa
    17041 actgacgaaa accagagaag cccatgaaga catagctaaa tattaggtgg tacggggtcc
    17101 tggatgaaag gcaccgtatt agtacgtcct catgcagcta ataaagacat acccgagact
    17161 aggtaattta taaagaaaac gagtttaatt gactcacagt tcagcatggc tggagaggcc
    17221 tcaggaaact tacaatcatg gaggaagggg aggcaaacat gtccttcttc acatggcagc
    17281 aggaaggaga agtgccgtgc aaaaggaggg ggaaaaaccc ttataaaacc atcagagctc
    17341 atgagaactc actatcatga gaacagcatg agggtagcca cccccatgat tcaattacct
    17401 tgcaccgggt ccctcccatg acatgtgggg attatgggaa ctacaattca agacgagatt
    17461 tgggtgggga cacagccaaa ccatatcagg cacattcgta ttataagctg ctgacatcta
    17521 aataaagtct ggagtttggt tactagtaat ttatcaatgt cagttccatt gttggcacaa
    17581 atgtgccagg taacataaag gttatattag gggaaattga gtgaagggta aatgggaatt
    17641 ccctgtgtta tctctgaaac ttttcagtga atctaaaatt atcccaaact taatagttta
    17701 ttttttttta aagtaaggtc taggccaaca agcacatgaa gaaatgttca acatcattac
    17761 tcactaggga aatgcaagtc aaaactccaa gagataccac cttacaccca ctaggatgtc
    17821 tataatcaaa aagacagaca ataacaaatg tttgtgagga cgtggggaaa ttggaaccct
    17881 catacgttgt tggagggaat gtaaaatggt acagccactt tggaaaacag tttggcagtt
    17941 tcttaaaaag ttagacatag aattatccag gaattcctct cttagtatgt accccagaga
    18001 aaaggaaata tatgtacaaa tataaaatac aaagacttct tttttttttt tatttttttt
    18061 attttttttt attttttaac caatcgcaac tctgtacgtt ggtattattc taagggagca
    18121 aagctttgcc ccaaccccca cccccatgtc ctggtactct tccactctga gagctttaga
    18181 accggggttc caaagtctct gcttagccta acagtgacgt gcttgtcaca aagccagagg
    18241 ccggtgtact cgggttagag agggcctttg tcgttgggtt ttattcttat tgtattattc
    18301 gggctccacc gacccaaata ttagtcaact gggttgggcg aggtaggacg gatgaagccc
    18361 accgtctaac aatctggaca tctataggag cagatccgcc gctcgaaaca gctgacccag
    18421 cgacgactgc ggaaccacta gcagcgtctg cacagatcga ccccgccatc ccgccgtccc
    18481 gttcggtgac cggagacgca gccgggaacg cgactgatca ggctaccgag ccgggccgca
    18541 gggcgaaagc ggtgcggtcc gaggcctcag aaagggacac gcagcagcgg cagtggcgct
    18601 gactcagccc ggcctccctg cagtcccctc aaatacaaag acttctccgc aaatgtttat
    18661 agcagcttta tttgtaatag ccaaaaactg atcacaatcc aaatgtccac caacagatca
    18721 aaggagaagc gaattgtgat ctgtccatat gaggggcttg gtgcctgcag caacatgggt
    18781 gaatctccag gtagtggtga cgagttgaag gagccagtca aaaaagaacg tgctgtgtga
    18841 ttccatttat agaaaactct agaaaatgtg gactaatcta gagtgaggga aagcagaccc
    18901 gtgattgcgc ctggggcaag gagacttggg ggtggagggg gggccagagg gaggggtttc
    18961 aaagatgata aagacatttt gagggtgatg gatatgatcc ctctcttaat agtggcgatg
    19021 gcttcatgga tagatacaaa tgtcaagaca tattgaactg tatactttaa atgcttgcgc
    19081 tttactacgt gccaatcaca tcttcataag gctgtttttt gtttttttgt ttgttttttt
    19141 tttttaaaaa aaaaggcctc gtaatggaga tgagtacagc ctggcctcag tctccccacc
    19201 tgcaatgtgg gggatccccg tgtgccttgc accacctgag agctccaggc ttaggaggag
    19261 accgaggtga gccctgtttc tagccagaaa ccccaaggcc ctaaccccca gggctgggca
    19321 gctgcagggc ccaggctact gcccctccgg ggatggacgg tgcgaggcca ctccaggggc
    19381 atgacctgtt ttgggcaggc ggtggctgtg gggagaagag tggggaggtc cctttctttt
    19441 ttcttcctga ataaaaaaat gcatgatgct a
//
LOCUS       NM_001010855            3053 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens phosphoinositide-3-kinase regulatory subunit 6
            (PIK3R6), transcript variant 1, mRNA.
ACCESSION   NM_001010855
VERSION     NM_001010855.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3053)
  AUTHORS   Liu YJ, Cui LL, Liu ZS, Jia RY, Ding YX and Xu LZ.
  TITLE     RBBP6 aggravates the progression of ovarian cancer by targeting
            PIK3R6
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (20), 10366-10374 (2020)
   PUBMED   33155192
  REMARK    GeneRIF: RBBP6 aggravates the progression of ovarian cancer by
            targeting PIK3R6.
REFERENCE   2  (bases 1 to 3053)
  AUTHORS   Nurnberg B and Beer-Hammer S.
  TITLE     Function, Regulation and Biological Roles of PI3Kgamma Variants
  JOURNAL   Biomolecules 9 (9), 427 (2019)
   PUBMED   31480354
  REMARK    Review article Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3053)
  AUTHORS   Turvey ME, Klingler-Hoffmann M, Hoffmann P and McColl SR.
  TITLE     p84 forms a negative regulatory complex with p110gamma to control
            PI3Kgamma signalling during cell migration
  JOURNAL   Immunol Cell Biol 93 (8), 735-743 (2015)
   PUBMED   25753393
  REMARK    GeneRIF: Our findings suggest that p84 binding to p110gamma may
            represent a novel negative feedback signal that terminates PI3Kgamma
            activity.
REFERENCE   4  (bases 1 to 3053)
  AUTHORS   Shymanets A, Prajwal, Bucher K, Beer-Hammer S, Harteneck C and
            Nurnberg B.
  TITLE     p87 and p101 subunits are distinct regulators determining class IB
            phosphoinositide 3-kinase (PI3K) specificity
  JOURNAL   J Biol Chem 288 (43), 31059-31068 (2013)
   PUBMED   24014027
  REMARK    GeneRIF: expression and activities of PI3Kgamma are modified
            differently by p87 and p101 in vitro and in living cells, arguing
            for specific regulatory roles of the non-catalytic subunits in the
            differentiation of PI3Kgamma signaling pathways.
REFERENCE   5  (bases 1 to 3053)
  AUTHORS   Suire S, Lecureuil C, Anderson KE, Damoulakis G, Niewczas I,
            Davidson K, Guillou H, Pan D, Jonathan Clark, Phillip T Hawkins and
            Stephens L.
  TITLE     GPCR activation of Ras and PI3Kc in neutrophils depends on PLCb2/b3
            and the RasGEF RasGRP4
  JOURNAL   EMBO J 31 (14), 3118-3129 (2012)
   PUBMED   22728827
  REMARK    GeneRIF: GPCR activation of Ras and PI3Kc in neutrophils depends on
            PLCb2/b3 and the RasGEF RasGRP4.
REFERENCE   6  (bases 1 to 3053)
  AUTHORS   Suire S, Coadwell J, Ferguson GJ, Davidson K, Hawkins P and Stephens
            L.
  TITLE     p84, a new Gbetagamma-activated regulatory subunit of the type IB
            phosphoinositide 3-kinase p110gamma
  JOURNAL   Curr Biol 15 (6), 566-570 (2005)
   PUBMED   15797027
REFERENCE   7  (bases 1 to 3053)
  AUTHORS   Brock C, Schaefer M, Reusch HP, Czupalla C, Michalke M, Spicher K,
            Schultz G and Nurnberg B.
  TITLE     Roles of G beta gamma in membrane recruitment and activation of p110
            gamma/p101 phosphoinositide 3-kinase gamma
  JOURNAL   J Cell Biol 160 (1), 89-99 (2003)
   PUBMED   12507995
REFERENCE   8  (bases 1 to 3053)
  AUTHORS   Jiang K, Zhong B, Gilvary DL, Corliss BC, Hong-Geller E, Wei S and
            Djeu JY.
  TITLE     Pivotal role of phosphoinositide-3 kinase in regulation of
            cytotoxicity in natural killer cells
  JOURNAL   Nat Immunol 1 (5), 419-425 (2000)
   PUBMED   11062502
  REMARK    Erratum:[Nat Immunol 2000 Dec;1(6):541]
REFERENCE   9  (bases 1 to 3053)
  AUTHORS   Krugmann S, Hawkins PT, Pryer N and Braselmann S.
  TITLE     Characterizing the interactions between the two subunits of the
            p101/p110gamma phosphoinositide 3-kinase and their role in the
            activation of this enzyme by G beta gamma subunits
  JOURNAL   J Biol Chem 274 (24), 17152-17158 (1999)
   PUBMED   10358071
REFERENCE   10  (bases 1 to 3053)
  AUTHORS   Stoyanov B, Volinia S, Hanck T, Rubio I, Loubtchenkov M, Malek D,
            Stoyanova S, Vanhaesebroeck B, Dhand R, Nurnberg B et al.
  TITLE     Cloning and characterization of a G protein-activated human
            phosphoinositide-3 kinase
  JOURNAL   Science 269 (5224), 690-693 (1995)
   PUBMED   7624799
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.125362.1,
            SRR1803617.172743.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000619866.5/ ENSP00000480157.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC003695.1, KF573668.1 and
            AC009451.21.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 6, 2019 this sequence version replaced NM_001010855.3.
            Summary: Phosphoinositide 3-kinase gamma is a lipid kinase that
            produces the lipid second messenger phosphatidylinositol
            3,4,5-trisphosphate. The kinase is composed of a catalytic subunit
            and one of several regulatory subunits, and is chiefly activated by
            G protein-coupled receptors. This gene encodes a regulatory
            subunit, and is distantly related to the phosphoinositide-3-kinase,
            regulatory subunit 5 gene which is located adjacent to this gene on
            chromosome 7. The orthologous protein in the mouse binds to both
            the catalytic subunit and to G(beta/gamma), and mediates activation
            of the kinase subunit downstream of G protein-coupled receptors.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Feb 2014].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3053
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..3053
                     /gene="PIK3R6"
                     /gene_synonym="C17orf38; HsT41028; p84 PIKAP; p87(PIKAP);
                     p87PIKAP"
                     /note="phosphoinositide-3-kinase regulatory subunit 6"
                     /db_xref="GeneID:146850"
                     /db_xref="HGNC:HGNC:27101"
                     /db_xref="MIM:611462"
     CDS             238..2502
                     /gene="PIK3R6"
                     /gene_synonym="C17orf38; HsT41028; p84 PIKAP; p87(PIKAP);
                     p87PIKAP"
                     /note="isoform 1 is encoded by transcript variant 1;
                     PI3Kgamma adapter protein of 87 kDa; p87 phosphoinositide
                     3-kinase gamma (PI3Kg) adapter protein; p84 PI3K adapter
                     protein"
                     /codon_start=1
                     /product="phosphoinositide 3-kinase regulatory subunit 6
                     isoform 1"
                     /protein_id="NP_001010855.1"
                     /db_xref="CCDS:CCDS73985.1"
                     /db_xref="GeneID:146850"
                     /db_xref="HGNC:HGNC:27101"
                     /db_xref="MIM:611462"
                     /translation="MESSDVELDLQRSVQAVLRELSTQAPALQSNQGMWRWSLHKKVER
                     DPGKSPVLVRILLRELEKAESQDLRHVIIPLLHTVMYVLTKATGITEELYQRIYAFCTR
                     LLTLPTPYCTVALDCAIRLKTEMAVPGTLYQRMVIAEQNLTNELYPYQERVFLFVDPEL
                     VSASVCSALLLEIEAAQAQQTPETCMRHVVSHALQAALGEACHAGALHRKLQASPRRTL
                     EHYFHAVVAALEQMASEASPSREGHVERLEEIYCSLLGPAAGRCGGDLVQERPPSIPLP
                     SPYITFHLWTGEEQLWKELVLFLRPRSQLRLSADLEVLDLQGLRPDRELARVSVLSTDS
                     GIERDLPTGADELPAPGSPEMERAGLQRKGGIKKRAWPLDFLMPGSWDGPPGLHRRTGR
                     PSGDGEMLPGVSRLHTARVLVLGDDRMLGRLAQAYHRLRKRETQKFCLTPRLSLQLYYI
                     PVLAPEKPAASRQPELGELATFLGRVDPWYQSNVNTLCPAIHKLAEMPPSLDTSRTVDP
                     FILDVITYYIRMGTQPIYFQIYTVKIFFSDLSQDPTEDIFLIELKVKIQDSKFPKDGFS
                     PRRRGVAEGPGAELSLCYQKALLSHRPREVTVSLRATGLILKAIPASDTEVSGSSHCPL
                     PAAPVTDHTCLNVNVTEVVKSSNLAGKSFSTVTNTFRTNNIQIQSRDQRLLTLSLDKDD
                     QRTFRDVVRFEVAPCPEPCSGAQKSKAPWLNLHGQQEVEAIKAKPKPLLMPINTFSGIV
                     Q"
     misc_feature    1264..1326
                     /gene="PIK3R6"
                     /gene_synonym="C17orf38; HsT41028; p84 PIKAP; p87(PIKAP);
                     p87PIKAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5UE93.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3017..3022
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIK3R6"
                     /gene_synonym="C17orf38; HsT41028; p84 PIKAP; p87(PIKAP);
                     p87PIKAP"
                     /note="hexamer: AATAAA"
     polyA_site      3053
                     /gene="PIK3R6"
                     /gene_synonym="C17orf38; HsT41028; p84 PIKAP; p87(PIKAP);
                     p87PIKAP"
                     /note="major polyA site"
ORIGIN
        1 gcagatctga agagcacagt caagaccaca gacacccgtg gaggctcccc caagacatct
       61 gcttctctgg gactggggac ctcgctcagg accgtgggga gttggctgaa ggacttgggg
      121 agcccagaag ctgccaccga accaagaacc acctctgtgc agaaaagcaa ccaccttgtt
      181 ctctattctg ctgcccgaga caaccacatc ctcctcctcc tacacccaaa ggctcccatg
      241 gagagctcag atgtggagct ggacctccag aggagcgtgc aggctgtgct ccgggagctc
      301 agcacccagg cccctgccct gcagagcaac caaggcatgt ggaggtggtc cctgcacaag
      361 aaggtcgagc gagatcccgg taagagccca gtgctggtcc gcattcttct cagagaactg
      421 gagaaggcgg aaagccagga cctccggcat gtcatcattc ccttgctgca cactgtaatg
      481 tacgtgctca ccaaggccac aggaatcaca gaagagctct accagagaat ctatgccttt
      541 tgcacaaggt tactgaccct gcccaccccc tactgcacag tcgccttgga ctgcgcgata
      601 aggctgaaaa cggagatggc tgtcccaggg acactgtacc aaaggatggt cattgccgaa
      661 cagaacttga cgaatgagct gtatccctac caggagagag tgttcctctt cgtggatcct
      721 gagctggtgt ctgcgtctgt gtgcagtgct ctgctactgg agatcgaggc ggcccaggcg
      781 cagcagacac cagagacctg catgcgccac gtggtctccc acgccctgca ggcggctctg
      841 ggggaggcct gtcacgcagg cgctctgcac aggaagctgc aggccagccc tcgccgcacc
      901 ctggagcact atttccacgc cgtggtggcc gccttggagc agatggccag cgaggccagc
      961 ccgagccggg agggacacgt agagaggctg gaggagattt actgctcgct gctgggtccc
     1021 gcggcggggc gctgcggtgg tgaccttgtc caagagcggc caccaagcat tcccctgccc
     1081 agcccctaca tcaccttcca cttgtggacc ggtgaggagc agctctggaa ggaactggtg
     1141 ctcttcctcc gcccaagatc ccagctgcgc ctcagtgctg acttggaggt cttggatctg
     1201 cagggcctcc ggccggaccg ggagttggcc cgggtttctg tgctgtccac tgacagcggc
     1261 attgagcggg accttcccac gggggctgat gagctgcctg cacccggcag ccctgagatg
     1321 gagcgagccg ggctgcagcg caaagggggc atcaagaagc gtgcatggcc cctggacttc
     1381 ttgatgcctg gcagctggga cgggccccca gggctgcacc ggaggacagg ccggcccagt
     1441 ggggatgggg aaatgctgcc cggcgtgtcc cggctgcaca cagcccgggt acttgtgctc
     1501 ggagatgaca ggatgctggg gcgcctggcc caggcctacc acagactcag gaaacgggag
     1561 acccagaagt tctgcctcac tcccagactc agcctgcagc tctactacat ccccgtgctg
     1621 gcgcctgaga agcctgcagc atccaggcag ccggagctgg gagagctggc tacgttcctg
     1681 ggccgcgtag acccgtggta ccagagcaac gtcaacacgc tgtgccccgc catccacaag
     1741 ctggctgaga tgcctccttc cctggacaca tcccggactg tggacccctt catcctagac
     1801 gtcatcacct actacatccg catgggcacc caacccatct atttccagat ctacacagtc
     1861 aagatctttt tcagtgacct gagccaagac cctactgagg acattttcct cattgaactg
     1921 aaggtgaaga tccaagattc taaattcccc aaagatggct tttcacccag gaggagaggc
     1981 gtggctgagg gcccaggggc agagctctcc ctatgctacc agaaggcctt gcttagccac
     2041 cggccccgag aggtcaccgt ttccctgcgg gccactgggc tgatcctgaa ggccattcca
     2101 gccagcgaca cagaagtttc agggtctagc cattgccccc tgcctgctgc tcctgtcaca
     2161 gaccacacat gtctgaatgt caacgtgaca gaggttgtca agtcctccaa cttggcggga
     2221 aagtccttct ctacagtgac caacaccttc aggacgaaca atatccagat ccagagccgg
     2281 gaccagaggc tgctgacact gtcgctggac aaggacgatc aacgcacttt cagggatgtg
     2341 gtcagattcg aggttgctcc ctgcccagaa ccatgttctg gggcccagaa gtccaaggca
     2401 ccgtggctca atttgcatgg gcaacaggag gtggaagcaa tcaaagccaa gcccaagccc
     2461 cttctgatgc ccatcaacac attctctggt attgtccagt gagcctgcag ggacagcagg
     2521 cccaggagga aggatacact accccaccaa ctccaaacac tcacaccaac agccagagca
     2581 aggcccggct ccacacggca gctttggcct tgaccaggag ccagcgagtg cctgggagca
     2641 cagggagcct accctgggga ctgtgatgag gaagggccca catggaggtc tacggatggc
     2701 ccaggcaatg ctgtcgctgc ttgagaacat acacaccaag cccagcttct catacaaatg
     2761 tctactcctt catttagctt caattcccac ttctcccact gtcctctccc acccaagctc
     2821 cccatccagc ccttaaaacc agggttaaag ctgctgtctt ggccagagcc ctgtggccta
     2881 ggggaaaatt ggaagcaagg aacagcaaca gcaccacctc cctcccaagt ctcttccctt
     2941 cccactctca ggccactgcc cacctcactc agcccaggca ggtgtctcta tcaggtgaga
     3001 gaaaaatgtc agactcaata aatgtacact gaagtctttc tgctttcatc tca
//
LOCUS       NM_001010857             536 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens late cornified envelope like proline rich 1 (LELP1),
            mRNA.
ACCESSION   NM_001010857
VERSION     NM_001010857.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 536)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 536)
  AUTHORS   Trzeciak M, Sakowicz-Burkiewicz M, Wesserling M, Dobaczewska D, Glen
            J, Nowicki R and Pawelczyk T.
  TITLE     Expression of Cornified Envelope Proteins in Skin and Its
            Relationship with Atopic Dermatitis Phenotype
  JOURNAL   Acta Derm Venereol 97 (1), 36-41 (2017)
   PUBMED   27304082
  REMARK    GeneRIF: mRNA levels of LELP1, SPRR1Av1, and SPRR1Av2 were
            significantly higher in the skin of patients with AD compared with
            the control group.
REFERENCE   3  (bases 1 to 536)
  AUTHORS   Trzeciak M, Wesserling M, Bandurski T, Glen J, Nowicki R and
            Pawelczyk T.
  TITLE     Association of a Single Nucleotide Polymorphism in a Late Cornified
            Envelope-like Proline-rich 1 Gene (LELP1) with Atopic Dermatitis
  JOURNAL   Acta Derm Venereol 96 (4), 459-463 (2016)
   PUBMED   26608070
  REMARK    GeneRIF: Suggest that rs7534334 SNP, located in the LELP1 region,
            may be a potential genetic marker for the risk and course of atopic
            dermatitis.
REFERENCE   4  (bases 1 to 536)
  AUTHORS   Sharma M, Mehla K, Batra J and Ghosh B.
  TITLE     Association of a chromosome 1q21 locus in close proximity to a late
            cornified envelope-like proline-rich 1 (LELP1) gene with total serum
            IgE levels
  JOURNAL   J Hum Genet 52 (4), 378-383 (2007)
   PUBMED   17387579
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DB074010.1, DB086762.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368747.2/ ENSP00000357736.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB069578.1 and DB086762.1.
            On Nov 23, 2018 this sequence version replaced NM_001010857.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..536
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..536
                     /gene="LELP1"
                     /note="late cornified envelope like proline rich 1"
                     /db_xref="GeneID:149018"
                     /db_xref="HGNC:HGNC:32046"
                     /db_xref="MIM:611042"
     misc_feature    52..54
                     /gene="LELP1"
                     /note="upstream in-frame stop codon"
     CDS             124..420
                     /gene="LELP1"
                     /note="novel small proline rich protein"
                     /codon_start=1
                     /product="late cornified envelope-like proline-rich protein
                     1"
                     /protein_id="NP_001010857.1"
                     /db_xref="CCDS:CCDS30869.1"
                     /db_xref="GeneID:149018"
                     /db_xref="HGNC:HGNC:32046"
                     /db_xref="MIM:611042"
                     /translation="MSSDDKSKSNDPKTEPKNCDPKCEQKCESKCQPSCLKKLLQRCFE
                     KCPWEKCPAPPKCLPCPSQSPSSCPPQPCTKPCPPKCPSSCPHACPPPCPPPE"
     misc_feature    124..201
                     /gene="LELP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T871.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      511..516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LELP1"
                     /note="hexamer: AGTAAA"
     polyA_site      536
                     /gene="LELP1"
                     /note="major polyA site"
ORIGIN
        1 agatctgggc agaggaacca aagggaaaag ccaccttccc aggcacagcc ataacatcca
       61 cctcactcaa ctgcttgtca agttcaccac caacacagag ggggctcaga taatcaagaa
      121 acaatgtcga gtgatgataa aagtaaatca aatgacccca agactgagcc caagaactgc
      181 gatcccaagt gtgaacaaaa gtgtgagtcc aaatgccagc ccagctgttt aaagaagctg
      241 ctgcaacgct gtttcgaaaa gtgcccatgg gaaaagtgtc cagcaccacc caagtgcctg
      301 ccctgcccct cgcagtctcc ttcatcctgc cctccccagc cctgcaccaa gccctgtcct
      361 cctaaatgcc cttcatcctg cccacatgct tgcccacctc cctgccctcc cccagagtga
      421 ggcactgtgg gcactaccca accccaccac cactgccacc tccaccatgt acaacgctgt
      481 ggggctggag actgaaacca tgaactgaca agtaaacgtg ttcctctgct gtgcaa
//
LOCUS       NM_001010858            3118 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens ring finger protein 187 (RNF187), mRNA.
ACCESSION   NM_001010858
VERSION     NM_001010858.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3118)
  AUTHORS   Li X, Niu Z, Sun C, Zhuo S, Yang H, Yang X, Liu Y, Yan C, Li Z, Cao
            Q, Ji G, Ding Y, Zhuang T and Zhu J.
  TITLE     Regulation of P53 signaling in breast cancer by the E3 ubiquitin
            ligase RNF187
  JOURNAL   Cell Death Dis 13 (2), 149 (2022)
   PUBMED   35165289
  REMARK    GeneRIF: Regulation of P53 signaling in breast cancer by the E3
            ubiquitin ligase RNF187. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3118)
  AUTHORS   Pang D, Wang W, Zhou X, Lu K, Zhang J, Chen Z, Wang L, Shen F, Chen
            Z, Wang S, Hou J, Zhang A, Lv B, Gao C, Yan Z, Hu Y, Chang T, Wang L
            and Li X.
  TITLE     RACO-1 modulates Hippo signalling in oesophageal squamous cell
            carcinoma
  JOURNAL   J Cell Mol Med 24 (20), 11912-11921 (2020)
   PUBMED   32896069
  REMARK    GeneRIF: RACO-1 modulates Hippo signalling in oesophageal squamous
            cell carcinoma.
REFERENCE   3  (bases 1 to 3118)
  AUTHORS   Chen J, Chen K, Zhou Z, Huang L, Cai Y, Tu H and Zhang X.
  TITLE     RING finger protein 187 as a novel potential biomarker for
            predicting the prognosis of ovarian carcinoma in 2 cancer centers
  JOURNAL   Curr Probl Cancer 44 (5), 100555 (2020)
   PUBMED   32057463
  REMARK    GeneRIF: RING finger protein 187 as a novel potential biomarker for
            predicting the prognosis of ovarian carcinoma in 2 cancer centers.
REFERENCE   4  (bases 1 to 3118)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 3118)
  AUTHORS   Zhang L, Chen J, Yong J, Qiao L, Xu L and Liu C.
  TITLE     An essential role of RNF187 in Notch1 mediated metastasis of
            hepatocellular carcinoma
  JOURNAL   J Exp Clin Cancer Res 38 (1), 384 (2019)
   PUBMED   31477177
  REMARK    GeneRIF: we identified that RNF187 is an essential factor for Notch1
            to promote invasion and metastasis of HCC. Of highly clinical
            relevance, we found that activation of Notch1-RNF187 correlates with
            a worse prognosis of HCC patients. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3118)
  AUTHORS   Fu Z, Yu W, Wang H and Chen X.
  TITLE     Overexpression of RNF187 induces cell EMT and apoptosis resistance
            in NSCLC
  JOURNAL   J Cell Physiol 234 (8), 14161-14169 (2019)
   PUBMED   30624778
  REMARK    GeneRIF: elevated RNF187 expression promotes NSCLC development by
            inducing cell EMT and apoptosis resistance, and RNF187 may be a
            novel prognostic indicator for NSCLC patients after curative
            resection
REFERENCE   7  (bases 1 to 3118)
  AUTHORS   Forster L, Finlayson J and Ghassemifar R.
  TITLE     RNF187 is Downregulated Following NF-kappaB Inhibition in Late
            Erythroblasts
  JOURNAL   Biochem Genet 54 (5), 714-721 (2016)
   PUBMED   27259582
REFERENCE   8  (bases 1 to 3118)
  AUTHORS   Chimusa ER, Zaitlen N, Daya M, Moller M, van Helden PD, Mulder NJ,
            Price AL and Hoal EG.
  TITLE     Genome-wide association study of ancestry-specific TB risk in the
            South African Coloured population
  JOURNAL   Hum Mol Genet 23 (3), 796-809 (2014)
   PUBMED   24057671
REFERENCE   9  (bases 1 to 3118)
  AUTHORS   Davies CC, Chakraborty A, Diefenbacher ME, Skehel M and Behrens A.
  TITLE     Arginine methylation of the c-Jun coactivator RACO-1 is required for
            c-Jun/AP-1 activation
  JOURNAL   EMBO J 32 (11), 1556-1567 (2013)
   PUBMED   23624934
  REMARK    GeneRIF: Arginine methylation of RACO-1 is required for efficient
            transcriptional activation by c-Jun/AP-1 and thus identify PRMT1 as
            an important regulator of c-Jun/AP-1 function.
REFERENCE   10  (bases 1 to 3118)
  AUTHORS   Davies CC, Chakraborty A, Cipriani F, Haigh K, Haigh JJ and Behrens
            A.
  TITLE     Identification of a co-activator that links growth factor signalling
            to c-Jun/AP-1 activation
  JOURNAL   Nat Cell Biol 12 (10), 963-972 (2010)
   PUBMED   20852630
  REMARK    GeneRIF: The RACO-1(RING domain AP-1 co-activator-1) is a
            co-activator that links c-Jun to growth factor signalling and is
            essential for AP-1 function in proliferation
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279862.4775.1, BC012758.2
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000305943.9/ ENSP00000306396.9
            non-AUG initiation codon    :: inferred from conservation
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI551408.1, BC012758.2 and AL139288.15.
            On Nov 23, 2018 this sequence version replaced NM_001010858.2.
            Sequence Note: The annotated protein is predicted to be translated
            from a non-AUG start codon based on cross-species sequence
            conservation, and includes a RING domain that would not be present
            if translation were to initiate from the first in-frame AUG. This
            RefSeq record was created from transcript and genomic sequence data
            to make the sequence consistent with the reference genome assembly.
            The genomic coordinates used for the transcript record were based
            on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3118
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.13"
     gene            1..3118
                     /gene="RNF187"
                     /gene_synonym="RACO-1; RACO1"
                     /note="ring finger protein 187"
                     /db_xref="GeneID:149603"
                     /db_xref="HGNC:HGNC:27146"
                     /db_xref="MIM:613754"
     CDS             108..815
                     /gene="RNF187"
                     /gene_synonym="RACO-1; RACO1"
                     /EC_number="2.3.2.27"
                     /note="non-AUG (CUG) translation initiation codon; protein
                     RNF187; RING domain AP1 coactivator 1; RING-type E3
                     ubiquitin transferase RNF187; ring domain AP-1 co-activator
                     1"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase RNF187"
                     /protein_id="NP_001010858.2"
                     /db_xref="CCDS:CCDS76271.1"
                     /db_xref="GeneID:149603"
                     /db_xref="HGNC:HGNC:27146"
                     /db_xref="MIM:613754"
                     /translation="MALPAGPAEAACALCQRAPREPVRADCGHRFCRACVVRFWAEEDG
                     PFPCPECADDCWQRAVEPGRPPLSRRLLALEEAAAAPARDGPASEAALQLLCRADAGPL
                     CAACRMAAGPEPPEWEPRWRKALRGKENKGSVEIMRKDLNDARDLHGQAESAAAVWKGH
                     VMDRRKKALTDYKKLRAFFVEEEEHFLQEAEKEEGLPEDELADPTERFRSLLQAVSELE
                     KKHRNLGLSMLLQ"
     misc_feature    399..401
                     /gene="RNF187"
                     /gene_synonym="RACO-1; RACO1"
                     /note="Asymmetric dimethylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:23624934; propagated from
                     UniProtKB/Swiss-Prot (Q5TA31.2); methylation site"
     misc_feature    432..434
                     /gene="RNF187"
                     /gene_synonym="RACO-1; RACO1"
                     /note="Asymmetric dimethylarginine, by PRMT1.
                     /evidence=ECO:0000269|PubMed:23624934; propagated from
                     UniProtKB/Swiss-Prot (Q5TA31.2); methylation site"
     regulatory      1880..1885
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNF187"
                     /gene_synonym="RACO-1; RACO1"
                     /note="hexamer: AATAAA"
     polyA_site      1899
                     /gene="RNF187"
                     /gene_synonym="RACO-1; RACO1"
                     /note="major polyA site"
     regulatory      3094..3099
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNF187"
                     /gene_synonym="RACO-1; RACO1"
                     /note="hexamer: TATAAA"
     polyA_site      3118
                     /gene="RNF187"
                     /gene_synonym="RACO-1; RACO1"
ORIGIN
        1 gttggcgtct tcgtcctgtt gctggtctcc gtccggtcgc cggccgtcta ggtctccggc
       61 cctccccagc cgctcctgcg cccttgccgg ccccgccgcc cgcagccctg gcgctccctg
      121 cgggccccgc cgaggccgcc tgcgccctgt gccagcgcgc gccccgggaa ccggtgcgcg
      181 ccgactgcgg ccaccgcttc tgtcgggcgt gcgtggtgcg cttctgggcc gaggaggacg
      241 ggcccttccc gtgccccgag tgcgccgacg actgctggca gcgcgccgtg gagcccggca
      301 ggcccccgct cagccgccgc cttctggcgc tcgaggaggc ggccgcggcg cccgcgcgcg
      361 acggcccggc cagcgaggcc gcgctgcagc tgctgtgccg cgccgacgcc ggcccgctct
      421 gcgccgcctg ccgtatggct gcgggccccg agccgcccga gtgggaaccg cgctggagga
      481 aggcgctgcg cggcaaggag aacaaggggt ctgtggaaat catgagaaag gacttgaatg
      541 acgcccggga cctgcatggc caggcagagt cagcagctgc agtgtggaag ggacacgtga
      601 tggaccgtag gaagaaggca ctgaccgact acaagaagct gcgggccttc tttgtggagg
      661 aggaggagca tttcctgcag gaggctgaga aggaggaggg gctccctgag gacgagctgg
      721 ctgaccccac tgagcggttc aggtcactgc tgcaggcggt ctcggagctg gagaagaagc
      781 atcgcaacct gggcctcagc atgctgctgc agtgatggcg ccaacccgtg gcagtcccag
      841 agctggaggc aggaggatgg atcctcatct ccatgggaag tgtcagcgtg tggctgccag
      901 ggaagcgtgg caggcgcctg gccttgggtc catctacata gttgcgtgtt tcaacaatgt
      961 ccatttatcc ttcaccccga ggcgtgtttt gggggctgca aacacctccc ggtagaggct
     1021 ggacctgagg acccttccca cctgtgcccg tcccttcctg aagtcctagc cacagcccat
     1081 cctccatgag tcccggcagc tctgggtcat gcccttccct ggtcacccat ctgcccctca
     1141 cctcgtcatc cagggaccca gaccctgcac cttccatgtg ggcccacaga tccttggcag
     1201 gtacctgagg tgcaccattg agtgtcggat ttggggttag catccagaaa gaagaatgcg
     1261 catgacgctc tgtgaaggct ggaactcagg tcttcaggga gagaaaggaa gactggattg
     1321 caccttgatg cctcctgagg aggcggcccc cctcttgagg tgggcgtggg cccggcccag
     1381 ccttatccaa gtcgctctgt ccacctcccc cttcctggcc cccaccccac tcctgtgcct
     1441 cccaggagcc ctccctgtgc tccacctgcc tccgcagaag gaagcctctt tctctgtttc
     1501 cctgggtgag ggggctggca ggtggctaac cccatttagc atctccaggc cctgccatcg
     1561 tgtctcatct tgctgttatc tctagctctt tccctcctcc catttccttt agtagttgaa
     1621 ttttgcaaag cttgtagcag tagctcagtt gcctgcagca tccttgtgtg tagataaatt
     1681 agtcgacaga aactcagcac tggggacagg attgcaaagt cggggacata gatgcagaca
     1741 gttgttgaga tttggggata gccgggcttg tgagcggtgc ccatttccag atgaagcctt
     1801 tcagcccttc tgagtccccg gcccttggtg cgatgtctgt gagtttgacc tgcccagcgt
     1861 gtgggctggc tcaatgctga ataaagtggg tttgtgtcag ctcgtttgct tcgtctccgt
     1921 gtgtccacct ggcctcttcc ccctgccctg gccaccctcc agtgtcaaag gaaacttcct
     1981 cgtgacacgt gctaaagcat ggtgaggagg actttgattg ggaccattga gatgggtgtg
     2041 ggaccctttc cttggggcct ggggggagat ggggctccac cccgacgtag cagggcaggg
     2101 gttggaggag cgaggagcag tatagggtcc atgggtggga atgactgtga ggagacatca
     2161 gggctgaggg ggctctggct aaacccacct cacagagtcc ttgctgcagg caggcagggc
     2221 gatcagacat tggctgcaaa cggtcagaga ggaacccagt caggtaccat tgagggtggt
     2281 cagatattat ggttaaccaa attagggttc ttgctaaaac tggatttcat aagaaagggc
     2341 aaagagggcc ctaggagaag attccagagc ctggccagag tttggccaag tagagaatct
     2401 ttgtcagcac gccaacaaca tcccgaccct gagacctcca gtttgtcttt ctcactgtct
     2461 ccgcctgctg cagtctgctg tcatccctga gcatccctgc ccctgccctg cacacctgtg
     2521 atgcttgccc ggacaggtcc tgatggcaga gtctcccaca acatcagtgt ctccacatca
     2581 ccaggtccga cagtggcttc accatcctca cctaacctag ctgaccagca acatcccacc
     2641 ctgtcaatca caacctcttt ctatttaaga aaattatata tttatggggc acagtgtgat
     2701 gttttgatat ctatgtacat tgtggagtga cagattaatg tatccatctc atgttttttt
     2761 tggtggtgag aatatttgaa atctacactc agcaatttca aatacagtca tccctctgtg
     2821 cctaaggggg attggttcca ggaccccctc atggatacca aaatctgcag atactcaagt
     2881 accctgcagt cagccctccc tctgcacata tgtgggacag tcagatacag agggccaact
     2941 gcgtacagta cacggttatc agctgaagtc accatgctgt gcaatagacc ttgagtttat
     3001 tcttgtatag cagggactct gtaccctctg actagaattt ccccaaatcc tcttgtctca
     3061 gcccctgcta accaccgttc tactctctaa ttctataaat caacattttg attccaca
//
LOCUS       NM_001010859            1378 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.
ACCESSION   NM_001010859
VERSION     NM_001010859.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1378)
  AUTHORS   Sivertsson A, Lindstrom E, Oksvold P, Katona B, Hikmet F, Vuu J,
            Gustavsson J, Sjostedt E, von Feilitzen K, Kampf C, Schwenk JM,
            Uhlen M and Lindskog C.
  TITLE     Enhanced Validation of Antibodies Enables the Discovery of Missing
            Proteins
  JOURNAL   J Proteome Res 19 (12), 4766-4781 (2020)
   PUBMED   33170010
REFERENCE   2  (bases 1 to 1378)
  AUTHORS   Takamitsu E, Otsuka M, Haebara T, Yano M, Matsuzaki K, Kobuchi H,
            Moriya K and Utsumi T.
  TITLE     Identification of Human N-Myristoylated Proteins from Human
            Complementary DNA Resources by Cell-Free and Cellular Metabolic
            Labeling Analyses
  JOURNAL   PLoS One 10 (8), e0136360 (2015)
   PUBMED   26308446
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1378)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.121276.1, CR456485.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000382097.4/ ENSP00000371529.3
            RefSeq Select criteria      :: based on expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL008723.8, BU072847.1, CR456485.1 and CK818305.1.
            On Nov 22, 2018 this sequence version replaced NM_001010859.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1378
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.3"
     gene            1..1378
                     /gene="C22orf42"
                     /gene_synonym="dJ90G24.6"
                     /note="chromosome 22 open reading frame 42"
                     /db_xref="GeneID:150297"
                     /db_xref="HGNC:HGNC:27160"
     misc_feature    17..19
                     /gene="C22orf42"
                     /gene_synonym="dJ90G24.6"
                     /note="upstream in-frame stop codon"
     CDS             89..844
                     /gene="C22orf42"
                     /gene_synonym="dJ90G24.6"
                     /codon_start=1
                     /product="uncharacterized protein C22orf42"
                     /protein_id="NP_001010859.1"
                     /db_xref="CCDS:CCDS33639.1"
                     /db_xref="GeneID:150297"
                     /db_xref="HGNC:HGNC:27160"
                     /translation="MGSKLTCCLGPSGGLNCDCCRPDVGPCHECEIPETVAATAPASTT
                     AKPAKLDLKAKKAQLMQYLSLPKTPKMLKMSKGLDARSKRWLKIIWRRHGIWPLENIGP
                     TEDVQASAHGGVEENMTSDIEIPEAKHDHRPTEDVQVSAHGGVEENITSDIEISEAKHD
                     HHLVEDLSESLSVCLEDFMTSDLSESLSVSLEDFMTSGLSESLSVSLEDLMTPEMAKER
                     YEDYLCWVKMARSRLNEPISSQVLGLLRL"
     regulatory      1358..1363
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C22orf42"
                     /gene_synonym="dJ90G24.6"
                     /note="hexamer: AATAAA"
     polyA_site      1378
                     /gene="C22orf42"
                     /gene_synonym="dJ90G24.6"
                     /note="major polyA site"
ORIGIN
        1 agtcggtagc tggccgtaga aggaggagga gctccgacta cattctgtcc ttgtgcctct
       61 tggacttttt tgtgtgttta ggtgcccaat ggggagcaaa ctgacttgct gcctgggccc
      121 cagcgggggc ctcaactgtg actgctgcag gccagatgtg ggaccctgcc atgagtgtga
      181 gattcctgag actgtggcag ccacagcacc agcatccacc actgcaaagc ctgccaaatt
      241 ggatttgaaa gctaagaagg cccaactcat gcagtacctc agcctcccga agacgccgaa
      301 gatgctgaag atgtccaaag gtttggacgc ccgctccaag cgctggttaa aaataatatg
      361 gagacggcac gggatttggc ctctagaaaa tataggtccc actgaagatg tgcaggcgtc
      421 tgcacacggc ggtgtggagg agaatatgac atcagatatt gaaatacctg aggccaagca
      481 cgaccaccgt cccactgaag atgtgcaggt gtctgcacac ggcggtgtgg aggagaatat
      541 aacgtcagat attgaaatat ctgaggccaa gcacgaccac catttggtcg aagatctcag
      601 tgaaagccta tctgtctgtc ttgaagactt catgacatcg gatctcagtg aaagcctatc
      661 tgtctctctt gaagacttca tgacatcagg tctcagtgaa agcctatctg tctctcttga
      721 agacctcatg acaccggaga tggcaaagga gagatatgaa gattacctct gctgggttaa
      781 gatggcacgg tctcggctca atgaacccat cagcagccag gttctaggac ttctccggct
      841 ttagtgttcc aagtagctgg gattacagac gcctgccatc acgcccagct caaatcattt
      901 tatgaatgca tatttccatc tgggtgaaaa aaaaatcaca agcctctctc tcttcctact
      961 gagcacctgt gaacagtgac ctgcagtttg tggctgcagc cagtcctctt gcagcctggt
     1021 gttcttacat ttcattctga ggctcacatt ctcagtcacc atgcagaaga acacccgccc
     1081 catcctgggt cattacagag tgggtcaatc catctgctgc atctgaagag ctgggtccag
     1141 cttctacagt gaatccatat atttctgtat ttcctggata aggaagagca aaggagctga
     1201 gctggtggag gaagaagaac taatattaac tgactcctta ttttgtgcta gtactgtgct
     1261 agttacatat tttatctcat gtaattctta ccaaactgta agggggtttc ggagtgatgg
     1321 agacaatatt gatgttatct ccattttagg gtgagaaaat aaaggctcag aaatgtta
//
LOCUS       NM_001010860            2984 bp    mRNA    linear   PRI 23-SEP-2023
DEFINITION  Homo sapiens sterile alpha motif domain containing 15 (SAMD15),
            mRNA.
ACCESSION   NM_001010860
VERSION     NM_001010860.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2984)
  AUTHORS   Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C,
            Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A,
            Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du
            H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon O,
            Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere F,
            Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors
            M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A,
            Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S,
            Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C,
            Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette
            S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D,
            Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A,
            Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C,
            Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D,
            Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J,
            Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F,
            Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F,
            Waterston R, Hood L and Weissenbach J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
  REMARK    Erratum:[Nature. 2023 Aug;620(7973):E17. PMID: 37491470]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK292571.1, SRR18074968.3520793.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000216471.5/ ENSP00000216471.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007954.7.
            On Apr 12, 2021 this sequence version replaced NM_001010860.3.
            Sequence Note:.
FEATURES             Location/Qualifiers
     source          1..2984
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..2984
                     /gene="SAMD15"
                     /gene_synonym="C14orf174; FAM15A"
                     /note="sterile alpha motif domain containing 15"
                     /db_xref="GeneID:161394"
                     /db_xref="HGNC:HGNC:18631"
     CDS             41..2065
                     /gene="SAMD15"
                     /gene_synonym="C14orf174; FAM15A"
                     /note="family with sequence similarity 15, member A; SAM
                     domain-containing protein C14orf174; SAM domain-containing
                     protein 15"
                     /codon_start=1
                     /product="sterile alpha motif domain-containing protein 15"
                     /protein_id="NP_001010860.1"
                     /db_xref="CCDS:CCDS32126.1"
                     /db_xref="GeneID:161394"
                     /db_xref="HGNC:HGNC:18631"
                     /translation="MAEVPEDYDSGPDEDGELEPERPELPGLHKLYENAEPDTMAKADS
                     KLPAEIYQEPQPETEEEDFKEGEPDSAKNVQLKPGGTSQEGIAKESKRDVPSETEPGIH
                     QEVKSETSREMGEFFKDLEAPMDETHKESDLEPPEEAKPNVTEDVFLESAMETDPDPVP
                     PTETMSEVSGATVRERNLELLEEETEPGVPEESLRVQHEETGLEPPEQTKQDFPSEKLG
                     ESLEETDLQPPKMTKPETPEETQRESTEKKRTEPPEQARLEFLEKEPRKSSEEAGLEPP
                     EETQPEVPEEMQRKATEEKGTELPERTKPDFPDHKPRKSTDENVPEPLEEIKLEFPEEE
                     SRKTNEETILEQSEMMKPESPEEIRKSNEKKNPQPPEETGPVLPQEINPQVEEKTQTKP
                     TEKILELPDETKPRETHVEFSKEDRPEPIKSKYSVGNDELEHREPKRGKLSLSDKFRKE
                     YYALGSLRESEESIGTHYEFLQPLQKLLNVSEECSYSDPSESQTELSEFVHEKEVVDLS
                     QELKERVSEDDETQPEKGTELQFEHLNWDPEEVAEWISQLGFPQYKECFITNFISGRKL
                     IHVNCSNLPQMGITNFEDMKAISRHTQELLEIEEPLFKRSISLPYRDIIGLYLEQKGHT
                     GIKSDSLTLSEFVKAAGLQDYAPEITAPEENEELPCTEP"
     misc_feature    41..1384
                     /gene="SAMD15"
                     /gene_synonym="C14orf174; FAM15A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1V8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2099..2104
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAMD15"
                     /gene_synonym="C14orf174; FAM15A"
                     /note="hexamer: ACTAAA"
     polyA_site      2117
                     /gene="SAMD15"
                     /gene_synonym="C14orf174; FAM15A"
                     /note="major polyA site"
     regulatory      2967..2972
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAMD15"
                     /gene_synonym="C14orf174; FAM15A"
                     /note="hexamer: AATAAA"
     polyA_site      2984
                     /gene="SAMD15"
                     /gene_synonym="C14orf174; FAM15A"
                     /note="major polyA site"
ORIGIN
        1 ggggttgcta ggaagccgcg gcgcgtctgc taagctgcaa atggctgaag tcccggagga
       61 ttatgattcc ggcccagatg aagatggaga gctggagcct gagaggcctg aactgcctgg
      121 acttcataaa ttgtatgaaa atgccgaacc agacaccatg gcaaaggcag actcgaagct
      181 accagcagag atttaccaag agccacagcc agagaccgag gaagaggact tcaaagaggg
      241 ggagccagac agtgctaaga acgtgcagct gaaacctggc gggacgtccc aggaaggaat
      301 tgccaaggag tccaagagag acgtaccaag cgaaactgaa ccagggatac accaagaggt
      361 aaagtcggaa acatccagag agatgggaga gtttttcaaa gatttggagg cccctatgga
      421 tgaaacgcat aaagagtcag acctagagcc accagaggag gctaaaccaa atgttacaga
      481 ggatgtgttc ctagagtcag ctatggaaac agatccagat ccagtgccac caacggaaac
      541 catgtctgag gtttcggggg ccacagtcag agagagaaat ttagaattac tagaggagga
      601 gactgaaccg ggggttccag aggaatcact tagagtgcaa catgaagaga caggtctaga
      661 gcctccagag cagaccaaac aagattttcc aagtgagaaa ctaggagaat cacttgaaga
      721 gacagatctt cagccaccaa agatgaccaa accagagact ccagaggaga cacaaagaga
      781 gtcaactgag aagaaaagga cagagccacc cgagcaggct agactggaat ttctggagaa
      841 ggaaccaaga aagtctagtg aggaggcagg tctagagcct ccagaagaga ctcaaccaga
      901 ggttccagag gagatgcaaa gaaaggcaac tgaggagaaa gggacagaac tacctgagcg
      961 gactaaacca gactttccag accacaagcc aagaaagtct actgatgaga acgttcctga
     1021 gccactagaa gagatcaaat tagagtttcc tgaggaagaa tcaagaaaaa caaatgagga
     1081 aacaattcta gaacaatcag aaatgatgaa accagaaagt ccagaagaga taagaaagtc
     1141 aaatgagaaa aaaaatccac agccaccaga ggagactggt ccagtgctac cacaggagat
     1201 caacccacaa gttgaagaga aaacacaaac aaagccaact gagaaaattc tagagttacc
     1261 agatgaaacc aaaccaaggg agacacatgt agaattttcc aaggaagaca ggccagaacc
     1321 aataaagtct aagtattctg taggaaacga tgagctagag caccgtgagc ctaaaagagg
     1381 aaagttgtca ctaagtgaca aatttagaaa agaatattac gcattaggat ctctcagaga
     1441 aagtgaagaa tcaattggta cacattatga gtttttgcaa ccactccaaa aattgcttaa
     1501 tgtcagtgaa gaatgctcat actcagatcc ctcagagtct cagacagaat taagtgagtt
     1561 cgttcatgaa aaggaagttg tagatttgtc ccaagagttg aaggaacggg tctctgaaga
     1621 tgacgaaacc cagccagaaa aagggactga gttacaattt gagcatctta attgggatcc
     1681 agaggaagtt gcagagtgga ttagccagct aggcttccct caatacaagg agtgttttat
     1741 cacaaacttc atcagtggcc gaaaactcat tcacgtcaac tgctcaaacc tccctcagat
     1801 ggggataaca aactttgagg acatgaaggc aatttctcgg catacgcagg agctcctgga
     1861 aattgaagag ccattattca aacgctccat cagccttccc tatagggata ttatcggctt
     1921 atatttagag caaaaaggtc atactgggat aaaatctgat tccttgactt tatctgaatt
     1981 tgtcaaagca gcaggattac aggattatgc tccagaaata actgcccctg aagagaatga
     2041 ggaattacct tgcactgaac cataggggaa atccacttca cagagcttga aagatcaaac
     2101 taaattactt gagggaagag gtatggtctt ttttggtttt ctttttctcc tttttttttt
     2161 ttttattttt ttgagacaga gtcttgctct gtcgcccagg ctggagtgca atggcacagt
     2221 ctcagctcac tgcaaccttg cgattctcct gtctcagcct cccgagtagc tgggattaca
     2281 ggcatccgcc atcatgccca gctaattttt gtatttttag tagatatgat gtttcaccat
     2341 gttggccagg ctggtctgaa actcctaaca gttgatctgc ccgccgtggc gtcccaaagt
     2401 gctgggatta caagcgtgac ctaccgcacc tggccctttt tctccttttc attaaggatc
     2461 agttagaact gctggcttca ttcctagttg tgtctctgac ttatggtacc ctccctttct
     2521 ttttgcaatt taaccccttg ttaaaacaaa gatagtcacg cttatctttc tgggtaatta
     2581 taagaattcc tgagccgggc aaggtggctc acacctgtaa tcctagctct ttgggtggct
     2641 gaggcgggca gatcacctaa ggtcaggatt tcaagaccag cctggccaac aaggtgaagc
     2701 cctgtctcta ctaaaaatac aaaaattagc tgggcatggt ggcacatgcc tgtagtccca
     2761 gctactcagg aggctgaggc agaagaatca tttgaaccca ggaaacagag gttatagtga
     2821 gctgagatgg tgccactgga ctccagcctg ggtgacagag tgagactctg tctaaaacaa
     2881 acaaacaaaa caaagcaaaa caaaattcct gaaaaattct agtaatgcac cttgtaatag
     2941 gaacatgttg gggaaatata attaaaaata aaatctcctg ccaa
//
LOCUS       NM_001010862            4445 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens spindlin family member 3 (SPIN3), transcript variant 1,
            mRNA.
ACCESSION   NM_001010862
VERSION     NM_001010862.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4445)
  AUTHORS   Bae N, Gao M, Li X, Premkumar T, Sbardella G, Chen J and Bedford MT.
  TITLE     A transcriptional coregulator, SPIN.DOC, attenuates the coactivator
            activity of Spindlin1
  JOURNAL   J Biol Chem 292 (51), 20808-20817 (2017)
   PUBMED   29061846
REFERENCE   2  (bases 1 to 4445)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer
            M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL,
            Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME,
            Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R,
            Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson
            A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler
            DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S,
            Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker
            GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O,
            Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman
            AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P,
            Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel
            L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z,
            Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S,
            Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS,
            Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O,
            Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H,
            Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T,
            Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis
            F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner
            G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R,
            Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S,
            Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume
            J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de
            Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis
            P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK,
            Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM,
            Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J,
            Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl
            P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S,
            Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN,
            Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S,
            Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey
            Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG,
            Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD,
            Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann
            RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K,
            Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M,
            Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry
            GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey
            DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L,
            Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S,
            Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A,
            Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM,
            Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R,
            Hubbard T, Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.98017.1,
            SRR1803617.120880.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374919.6/ ENSP00000364054.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB151976.1, BX403408.2, AL139397.8 and AJ271379.1.
            On Nov 22, 2018 this sequence version replaced NM_001010862.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the functional protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4445
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.21"
     gene            1..4445
                     /gene="SPIN3"
                     /gene_synonym="bA445O16.1; SPIN-3; TDRD27"
                     /note="spindlin family member 3"
                     /db_xref="GeneID:169981"
                     /db_xref="HGNC:HGNC:27272"
     misc_feature    23..25
                     /gene="SPIN3"
                     /gene_synonym="bA445O16.1; SPIN-3; TDRD27"
                     /note="upstream in-frame stop codon"
     CDS             329..1105
                     /gene="SPIN3"
                     /gene_synonym="bA445O16.1; SPIN-3; TDRD27"
                     /note="bA445O16.1 (DXF34); spindlin-like protein 3"
                     /codon_start=1
                     /product="spindlin-3"
                     /protein_id="NP_001010862.2"
                     /db_xref="CCDS:CCDS43963.1"
                     /db_xref="GeneID:169981"
                     /db_xref="HGNC:HGNC:27272"
                     /translation="MKTPFGKAAAGQRSRTGAGHGSVSVTMIKRKAAHKKHRSRPTSQP
                     RGNIVGCRIQHGWKDGDEPLTQWKGTVLDQVPVNPSLYLIKYDGFDCVYGLELHRDERV
                     SSLEVLPNRVASSRISDTHLAEIMVGKAVEHIFETEEGSKNEWRGMVLAQAPVMNTWFY
                     ITYEKDPVLYMYQLLDDYKDGDLRILQDSNDSPLAEREPGEVIDSLVGKQVEYAKDDGS
                     KRTGMVIHQVEAKPSVYFIKFDDDFHIYVYDLVKTS"
     misc_feature    329..397
                     /gene="SPIN3"
                     /gene_synonym="bA445O16.1; SPIN-3; TDRD27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JUX0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    476..625
                     /gene="SPIN3"
                     /gene_synonym="bA445O16.1; SPIN-3; TDRD27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JUX0.1);
                     Region: Tudor-like domain 1. /evidence=ECO:0000255"
     misc_feature    713..862
                     /gene="SPIN3"
                     /gene_synonym="bA445O16.1; SPIN-3; TDRD27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JUX0.1);
                     Region: Tudor-like domain 2. /evidence=ECO:0000255"
     misc_feature    740..742
                     /gene="SPIN3"
                     /gene_synonym="bA445O16.1; SPIN-3; TDRD27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JUX0.1);
                     Region: Histone H3K4me3 and H3R8me2a binding.
                     /evidence=ECO:0000250|UniProtKB:Q9Y657"
     misc_feature    833..835
                     /gene="SPIN3"
                     /gene_synonym="bA445O16.1; SPIN-3; TDRD27"
                     /note="Histone H3K4me3 and H3R8me2a binding.
                     /evidence=ECO:0000250|UniProtKB:Q9Y657; propagated from
                     UniProtKB/Swiss-Prot (Q5JUX0.1); other site"
     misc_feature    854..856
                     /gene="SPIN3"
                     /gene_synonym="bA445O16.1; SPIN-3; TDRD27"
                     /note="Histone H3K4me3 and H3R8me2a binding.
                     /evidence=ECO:0000250|UniProtKB:Q9Y657; propagated from
                     UniProtKB/Swiss-Prot (Q5JUX0.1); other site"
     misc_feature    866..868
                     /gene="SPIN3"
                     /gene_synonym="bA445O16.1; SPIN-3; TDRD27"
                     /note="Histone H3K4me3 and H3R8me2a binding.
                     /evidence=ECO:0000250|UniProtKB:Q9Y657; propagated from
                     UniProtKB/Swiss-Prot (Q5JUX0.1); other site"
     misc_feature    956..1093
                     /gene="SPIN3"
                     /gene_synonym="bA445O16.1; SPIN-3; TDRD27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JUX0.1);
                     Region: Tudor-like domain 3. /evidence=ECO:0000255"
     misc_feature    1064..1072
                     /gene="SPIN3"
                     /gene_synonym="bA445O16.1; SPIN-3; TDRD27"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JUX0.1);
                     Region: Histone H3K4me3 and H3R8me2a binding.
                     /evidence=ECO:0000250|UniProtKB:Q9Y657"
     regulatory      4421..4426
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPIN3"
                     /gene_synonym="bA445O16.1; SPIN-3; TDRD27"
                     /note="hexamer: ATTAAA"
     polyA_site      4445
                     /gene="SPIN3"
                     /gene_synonym="bA445O16.1; SPIN-3; TDRD27"
                     /note="major polyA site"
ORIGIN
        1 gagactgcgg cgcagcagcg actagtggga gtccgatgtg ggagaggggc tgcggccacc
       61 gccaccgccg ccgccaccag gaaggcggag gacgcaggag ccaagagcaa gggacgccgc
      121 cacggtcatc ttcgcctgcc ccgccgccct cttagagaca ctcattgcct atggatcatc
      181 ctctcccagc ttttgcaagc accgggctgc tcgcccgctg attttcctcc tccataggct
      241 cactgcggag gcaacggcga ggtgtccgat ttgtgcactt gaggcccgca atccgggacg
      301 gtggggaatc tgcgcctcct ggccgggcat gaagaccccg tttggaaagg cagctgcagg
      361 gcagcggtcc aggacgggcg ctggccacgg cagtgtgtct gttaccatga taaagaggaa
      421 ggctgcacac aagaagcata ggagccgacc cacctcccag cctcggggga acatcgtggg
      481 ctgcagaatt cagcacggat ggaaagatgg agatgaacct ctaacacagt ggaaaggaac
      541 cgttctggat caggtacctg taaatccctc tctgtatctt atcaaatatg atggatttga
      601 ctgtgtttat ggattggaac ttcacagaga tgaaagagtg tcatcacttg aagtccttcc
      661 taatagagtt gcatcatcta gaatcagtga tacacacttg gcagaaataa tggttggcaa
      721 agcagtggaa catatttttg agacagagga aggttccaaa aatgaatgga gggggatggt
      781 cttagctcag gcacctgtca tgaacacatg gttttacatt acctatgaga aagatcctgt
      841 attatatatg taccagctct tagatgatta taaagatggt gacctccgca tccttcaaga
      901 ttccaatgat tctcctctgg cagagaggga gccaggagaa gtcatagaca gcctggtagg
      961 caaacaggtg gaatacgcca aagacgatgg ctccaagaga actggcatgg tcattcatca
     1021 ggtagaagca aaaccctctg tgtacttcat caaatttgat gatgatttcc atatctatgt
     1081 ctacgatttg gtaaaaacat cttagaggtc atcttgaaat ttgccaaata tatgagactc
     1141 taaatctgta gacacagaaa gtcttgattg ctttccagtt tgtaagaacc atcttctccc
     1201 tttttgcacg ttttgcttgg caaaaaaatt ggaacttctg ccctctcata cgtttttgga
     1261 agaaaccttt tgcccatctg tccaaccttt tcactggttc ctctccgcaa tttaactgat
     1321 tagtgagaag ggtaaagtct gacatccatt ggctcatact tttttttatc ttgggtggtg
     1381 ttaatagatt aaaggtagct gaacacctct cacctcactc tttttggcac ttggactcta
     1441 cactcattga ggtgtgaagc ttgctgagat atcccatgtg actggctggg taagtgtctt
     1501 tgcaatctca aatctccccc aagtggcttc aaaaatctaa cttgggaaag agtgggaagc
     1561 ccattttggt ctcttgttca agttgcattc tcagttctaa ctgtactaaa agtaaggcta
     1621 ataattttgc tctctttccg gttctttcac ctattgctca actgttttag aattaagaag
     1681 gtaattactt tgcattttag tacctaacca taggctgaga aaccttgcaa aactgataag
     1741 aagacaagca tttggggacc aaactccaag tggagagatc aagatttctg gtggagctta
     1801 agtgaaaggt tttagtcatc agtggcatta gggtctctct tgtctccaat agctctggct
     1861 ggtatctgca gacatggagt aggttttaac tgatagaagc tgtgcaggca gactttagca
     1921 caaatggtct ttgccagccc agaggagcat taagccaggc tctagctaga gccctcagtc
     1981 acaggcaaag gctgggtttg gctgggtttg gacagatctg tccagaacct caaaatgaaa
     2041 gaggagaaac ctagaatcaa actgagatac agatttcttt gctgtgctaa gagagactca
     2101 agttttagat ttgattctta ggagactgaa ttcagagtcc cagcatgtga ggtgggcaag
     2161 gcacttgtga gaaccaagaa tggctgaaag caggctatac ttccttgcag ggactggtgg
     2221 gctcatctat tatggtatcc cagcaggact tggaacacag tcagtggtag gtaatctgta
     2281 ggcttaatga tgttttaagt gctggcattg gtagatagaa atctaataga tttttgttag
     2341 tgtttggatt tttaactatc ctgtttcttg gctggcccta agaaacttat atgcagataa
     2401 gggtgagttc tactgtggca gaaaagtaaa caatggaagg gcctttgagc tttccattat
     2461 taaagagcca ttggcggagg ttaaccaaag cctaggaaag aaaagttgaa gtacaagcat
     2521 ggtttttgag agaagcacct ggccaaaacc aaagctttct cattgaggtt ctcacagaag
     2581 ctccattagc agtaacagcc taataaggcc atggagttct gcacatttgg ggctgggact
     2641 caaggcagta caatcatatt gggactgtac tgcaagatat cttccaaatt agtttaagtt
     2701 cacaggtcat ggagtccaga ctaccggcac agattggcat cctgctgagg atgaaacaaa
     2761 gaagatgttc tcttttctcc tatgttttat ctgtctactt ttgctttttg atgccactaa
     2821 gtctctacta tgatgtttga ctgacaacag caatgtgggt ctgtattgcc ctatgttcta
     2881 agtcctgggg tcatatattt gcttaaaaaa actgttctag tggctgggga ctagtgtgct
     2941 ttctaatttt tttgatgtga ggttgatatt gtgataatct tatgtcttct tgaccctttg
     3001 gactctttaa tatgtatgac atgcaattgt ggggttagat taattcaact cctgaggtcc
     3061 tgaaggaact tcacccagtc aagaggaaga cagccaaggc tgcagctgct gaaggaaccc
     3121 catatctggg cagacatctt tgtgagatct atatggctga aatgagaaaa acgagaaatt
     3181 gggaaaggca gaattttgga ctttaattat tttggacttt gaattagaaa tttaattttg
     3241 ggcagtcctt tttcccttgg agtttaatag ttgatggggt gggggtgagg tcatatagtt
     3301 caaactaagg catttttatt atgttgttga tattgtatta tttggagtat tttaatgcta
     3361 tctttgggag tcattgtata attgttgtca gctatgtcag gaaatatggc tggacataat
     3421 tgtaaattag ggctgcaatt gtgatcaaat tttcagtcta gggtgtaatg tagccttaga
     3481 gttaatttaa ttactgttct attttgactt atttcagagc ctcttggggg caaaaacaac
     3541 tgctcaccaa tcttacattg atgggagcag aacttttcta agatactgtt ggtctccctg
     3601 gaaggggaca gccacagccc tgtttgttga ccagagtctt gagcattaac cattgtggct
     3661 taagagaatg aaaatgtaca agggtatgat gggatctatc ctcttcctct ctccatgctc
     3721 ctgactcaag aaaaggaaaa gacttgcatc tctcaaaaat gtttggaaga aagttctacc
     3781 catcttctct tacactcatt caatcttatg cttgggagga ggaataactt gatgagattg
     3841 agaaaatggt tataatggat aggcagctta ggccactctt ggatcttgag ttcgttccac
     3901 acagcaagat gtgggaaaga ctgcagtcct tcactacatg gctgggtaaa catctgcttt
     3961 ctagacccaa ctatctctcc ttggggtggg ggaatcccaa agtcgttaga cttatgatag
     4021 aagttcattt cagcctcagg tccaagccat gttctccaat ccagctctat cagctataaa
     4081 gctggtatct attttgattc ttttttacag ttttaatata taaattgttt tttagaaaaa
     4141 taacacatgc ctatggtaaa agtcaaacag tataaaaggg tatactatta aaaagtaagt
     4201 ctctcttcct ccttctcacc cctggcctca gttccctggt cccattttca aaaagtaaca
     4261 actgttacca gttactgatg tatcattcca gagatattcc atgtatttac aagcatattg
     4321 tgtgtgggta tgtgtgtatc aggttttttt ttttttttta cacaaatggt ggcatactat
     4381 acatgctgtt ctgaattttg cttttttcac tgaacaatat attaaagctg atatcttaat
     4441 cccta
//
LOCUS       NM_001010867            7828 bp    mRNA    linear   PRI 22-NOV-2020
DEFINITION  Homo sapiens iron-sulfur cluster assembly factor IBA57 (IBA57),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001010867
VERSION     NM_001010867.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7828)
  AUTHORS   Nasta V, Da Vela S, Gourdoupis S, Ciofi-Baffoni S, Svergun DI and
            Banci L.
  TITLE     Structural properties of [2Fe-2S] ISCA2-IBA57: a complex of the
            mitochondrial iron-sulfur cluster assembly machinery
  JOURNAL   Sci Rep 9 (1), 18986 (2019)
   PUBMED   31831856
  REMARK    GeneRIF: Structural properties of [2Fe-2S] ISCA2-IBA57: a complex of
            the mitochondrial iron-sulfur cluster assembly machinery.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 7828)
  AUTHORS   Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K, Fujita
            A, Imagawa E, Iwama K, Nakashima M, Mitsuhashi S, Mizuguchi T,
            Takata A, Miyake N, Saitsu H, van der Knaap MS, Lerman-Sagie T and
            Matsumoto N.
  TITLE     Expanding the phenotype of IBA57 mutations: related leukodystrophy
            can remain asymptomatic
  JOURNAL   J Hum Genet 63 (12), 1223-1229 (2018)
   PUBMED   30258207
  REMARK    GeneRIF: a patient with infantile-onset optic atrophy and
            asymptomatic white matter involvement, thus broadening the
            phenotypic spectrum of biallelic IBA57 mutations.
REFERENCE   3  (bases 1 to 7828)
  AUTHORS   Liu M, Zhang J, Zhang Z, Zhou L, Jiang Y, Wang J, Xiao J and Wu Y.
  TITLE     Phenotypic spectrum of mutations in IBA57, a candidate gene for
            cavitating leukoencephalopathy
  JOURNAL   Clin Genet 93 (2), 235-241 (2018)
   PUBMED   28671726
  REMARK    GeneRIF: Combined with previously reported patient studies, our
            findings suggest that defects in IBA57 can produce diverse
            phenotypes. IBA57 should be considered a candidate gene for
            cavitating leukoencephalopathy
REFERENCE   4  (bases 1 to 7828)
  AUTHORS   Torraco A, Ardissone A, Invernizzi F, Rizza T, Fiermonte G, Niceta
            M, Zanetti N, Martinelli D, Vozza A, Verrigni D, Di Nottia M,
            Lamantea E, Diodato D, Tartaglia M, Dionisi-Vici C, Moroni I, Farina
            L, Bertini E, Ghezzi D and Carrozzo R.
  TITLE     Novel mutations in IBA57 are associated with leukodystrophy and
            variable clinical phenotypes
  JOURNAL   J Neurol 264 (1), 102-111 (2017)
   PUBMED   27785568
  REMARK    GeneRIF: Description of four unrelated patients carrying novel
            mutations in IBA57; study expands the array of the genotypic
            variation of IBA57 and delineates the leukodystrophic pattern of
            IBA57 deficient patients
REFERENCE   5  (bases 1 to 7828)
  AUTHORS   Debray FG, Stumpfig C, Vanlander AV, Dideberg V, Josse C, Caberg JH,
            Boemer F, Bours V, Stevens R, Seneca S, Smet J, Lill R and van
            Coster R.
  TITLE     Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal
            infantile leukodystrophy
  JOURNAL   J Inherit Metab Dis 38 (6), 1147-1153 (2015)
   PUBMED   25971455
REFERENCE   6  (bases 1 to 7828)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   7  (bases 1 to 7828)
  AUTHORS   Sheftel AD, Wilbrecht C, Stehling O, Niggemeyer B, Elsasser HP,
            Muhlenhoff U and Lill R.
  TITLE     The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are
            required for [4Fe-4S] protein maturation
  JOURNAL   Mol Biol Cell 23 (7), 1157-1166 (2012)
   PUBMED   22323289
  REMARK    GeneRIF: ISCA1, ISCA2, and IBA57 were depleted by RNA interference.
            Depleted cells contained massively swollen and enlarged mitochondria
            that were virtually devoid of cristae membranes, demonstrating the
            importance of these proteins for mitochondrial biogenesis.
REFERENCE   8  (bases 1 to 7828)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer
            JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
REFERENCE   9  (bases 1 to 7828)
  AUTHORS   Nilsson R, Schultz IJ, Pierce EL, Soltis KA, Naranuntarat A, Ward
            DM, Baughman JM, Paradkar PN, Kingsley PD, Culotta VC, Kaplan J,
            Palis J, Paw BH and Mootha VK.
  TITLE     Discovery of genes essential for heme biosynthesis through
            large-scale gene expression analysis
  JOURNAL   Cell Metab 10 (2), 119-130 (2009)
   PUBMED   19656490
  REMARK    GeneRIF: Required for functional heme biosynthesis in erythroid
            cells.
REFERENCE   10  (bases 1 to 7828)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens
            K and Amemiya A (Eds.); GENEREVIEWS((R)); (1993)
   PUBMED   20301682
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.402822.1,
            SRR1163655.527695.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000366711.4/ ENSP00000355672.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359510.24, HY081013.1 and
            BI820993.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001010867.3.
            Summary: The protein encoded by this gene localizes to the
            mitochondrion and is part of the iron-sulfur cluster assembly
            pathway. The encoded protein functions late in the biosynthesis of
            mitochondrial 4Fe-4S proteins. Defects in this gene have been
            associated with autosomal recessive spastic paraplegia-74 and with
            multiple mitochondrial dysfunctions syndrome-3. Two transcript
            variants encoding different isoforms have been found for this gene.
            The smaller isoform is not likely to be localized to the
            mitochondrion since it lacks the amino-terminal transit peptide.
            [provided by RefSeq, Jul 2015].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7828
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.13"
     gene            1..7828
                     /gene="IBA57"
                     /gene_synonym="C1orf69; MMDS3; SPG74"
                     /note="iron-sulfur cluster assembly factor IBA57"
                     /db_xref="GeneID:200205"
                     /db_xref="HGNC:HGNC:27302"
                     /db_xref="MIM:615316"
     CDS             14..1084
                     /gene="IBA57"
                     /gene_synonym="C1orf69; MMDS3; SPG74"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; putative transferase C1orf69, mitochondrial; IBA57,
                     iron-sulfur cluster assembly homolog; iron-sulfur cluster
                     assembly factor for biotin synthase- and aconitase-like
                     mitochondrial proteins, with a mass of 57kDa; putative
                     transferase CAF17, mitochondrial; IBA57 homolog,
                     iron-sulfur cluster assembly"
                     /codon_start=1
                     /product="putative transferase CAF17, mitochondrial isoform
                     1 precursor"
                     /protein_id="NP_001010867.1"
                     /db_xref="CCDS:CCDS31046.1"
                     /db_xref="GeneID:200205"
                     /db_xref="HGNC:HGNC:27302"
                     /db_xref="MIM:615316"
                     /translation="MATAALLRGATPGRGGPVWRWRLRAAPRCRLAHSSCSPGGDPTAG
                     AAWACFRLDGRTLLRVRGPDAAPFLLGLLTNELPLPSPAAAGAPPAARAGYAHFLNVQG
                     RTLYDVILYGLQEHSEVSGFLLECDSSVQGALQKHLALYRIRRKVTVEPHPELRVWAVL
                     PSSPEACGAASLQERAGAAAILIRDPRTARMGWRLLTQDEGPALVPGGRLGDLWDYHQH
                     RYLQGVPEGVRDLPPGVALPLESNLAFMNGVSFTKGCYIGQELTARTHHMGVIRKRLFP
                     VRFLDPLPTSGITPGATVLTASGQTVGKFRAGQGNVGLALLWSEKIKGPLHIRASEGAQ
                     VALAASVPDWWPTVSK"
     regulatory      1932..1937
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IBA57"
                     /gene_synonym="C1orf69; MMDS3; SPG74"
                     /note="hexamer: ATTAAA"
     polyA_site      1953
                     /gene="IBA57"
                     /gene_synonym="C1orf69; MMDS3; SPG74"
                     /note="major polyA site"
     regulatory      4921..4926
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IBA57"
                     /gene_synonym="C1orf69; MMDS3; SPG74"
                     /note="hexamer: AATAAA"
     polyA_site      4941
                     /gene="IBA57"
                     /gene_synonym="C1orf69; MMDS3; SPG74"
     regulatory      7806..7811
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IBA57"
                     /gene_synonym="C1orf69; MMDS3; SPG74"
                     /note="hexamer: AATAAA"
     polyA_site      7828
                     /gene="IBA57"
                     /gene_synonym="C1orf69; MMDS3; SPG74"
ORIGIN
        1 actcttgtcc aagatggcga ccgcggcgct gcttcgaggc gccactccgg ggcgcggcgg
       61 cccggtctgg cgctggcggc tgcgcgcggc cccaaggtgc cgcctggccc acagctcctg
      121 cagtcctggt ggcgacccaa cggccggagc ggcctgggcc tgcttccggc tggacgggcg
      181 caccctgctg cgcgtgcgtg gccccgacgc ggcgcccttc ctgctagggc tgctgaccaa
      241 tgaactgccg cttccgagtc ctgcggccgc gggggccccg cctgctgcgc gcgcgggcta
      301 cgcccacttc ctgaacgtgc agggccggac gctctatgac gtcatcttgt acgggctcca
      361 ggaacactcg gaggtgtctg gcttccttct ggagtgtgac agctcggtgc agggcgcgct
      421 gcagaagcac ctcgcgctat acaggatccg gcggaaggtc acggtggagc cgcacccgga
      481 gctgcgagtg tgggcggtgt tgcccagttc ccctgaggcc tgcggggctg catcgctgca
      541 ggagagggca ggggctgccg ccatcctcat ccgcgacccg cgaacagcac gcatggggtg
      601 gcggctcctc acccaggatg aaggcccagc cctggtgccc gggggccggc tcggggactt
      661 gtgggattat caccagcacc gatacctgca aggcgttcct gagggggtcc gagacttgcc
      721 tcctggggtg gccctgcccc tggagtccaa cctggccttc atgaacggcg tgagcttcac
      781 caaaggctgc tacattggcc aggagctgac ggcccgcacc caccacatgg gcgtcatccg
      841 caagcgcctc ttccctgtcc ggttcttgga cccccttccc accagtggca tcacccctgg
      901 tgccacggtg ctgactgcct caggacagac tgtgggcaag ttcagggctg gccagggcaa
      961 cgtggggctg gccctgctgt ggtcagagaa gatcaagggt cctctgcaca tcagagcctc
     1021 tgagggtgcc caggtggcct tagccgcatc tgtgccagac tggtggccta cagtctccaa
     1081 gtagtccgaa gccttggctg gcgcaggctg atggggaggc tggggcctgg ggcctttggc
     1141 ctctgtccag ggtcttcccg tcccatctgt ctgctgcgcc tactgggtgg gagccctggt
     1201 ttccatctgg gaaagtcccc cttgtaggtg ccctgcctgg ccccacccat gctcaggggc
     1261 cccaggcacg tgggttgttt tctccctgga cttcctgtgg ccccagagga gcccaccgtg
     1321 tgagtgctgg gctccagatg gcgccgggtc ccaatcgtgg ctccacacag ggttgtctgg
     1381 gaggacggga cggtgtctct ggccagcact ggcagcttcc gggccttgta ccccactctg
     1441 cctggcatga gcctcatggg gggttggtcc ctgtgcctgg aagcggggtg gtgtccaggg
     1501 tctgcaggct ggggctcggg ctttgggagt tgtttcactg tgcttgcttc cagcatgtct
     1561 cagggtgggg ctatgcgtgg tctagagggg tctggggcat tggatcaggt ggcatgtggg
     1621 tgtctacaca tcgagaagca cacagggatg agccactagg tatcccatgc tggaggcttg
     1681 tggaaggctg tgcccatctc ccatgtttcc ccacctctgt tcctcctcag agccctccag
     1741 gagcgtgggg tgggggccag cgcagggctc aggagccagc agggcagagt tctgcctgtg
     1801 tgtgctgggt tttggcatag cctgtgtttg cagtgagagt gacttgctgt cagtcacggg
     1861 gcacagcctc ctgttcaccc actggcttcc cccttcccac tgaagtgtga gctctatgtt
     1921 tcagggcatc tattaaagag tgagccacag gcagcccctt gggagctctg gtttcatttg
     1981 ggggagaggg aggtgggggc ttagtttttg tgatctggct gactggaccc cgggaacagc
     2041 gctcctttga gaacgcccag acctaccaga tgaagcactt ggcatggctg caggccagca
     2101 ggggaggcct cagaggccca ggctgggcac gtgggtgccg agtctgcaaa ggacagcccc
     2161 atggctgtga gctgtcggct gcagggcgca gggcctgggg ggcaggcgtt tgggccacca
     2221 agctggacgt tagggtggcc acagagggcc aagcaggcag ggagcctgtg ccgccatcct
     2281 ggggggccac aggtgctctc tagaaatctg cagccatggc ggttttgggg tcaggggtct
     2341 aaaggcagct ctgagctgca gtgtagtttg tgatcaccca ggaggagggt gtagagcgga
     2401 tggacgggag gaagcggctg cagctggagg gaagagaggg gccgtccagc ctcacccgct
     2461 gcagtcagct ctcctatggg caaggaaaca gctaggtggc cctgacccct gcggtcctga
     2521 gagccggtgg ccttcagccc ctcttggaca ggtcatggtc tggaagcgcc cagcgcagga
     2581 tggattccag accagcatcc ctgcaacctt ttcagcccca ctggctgctg ctttaaactg
     2641 gcatggagac atttgatcag cttcccagcc agttttctct ccagctcagc caggagtggg
     2701 tgcctgtggc ctgtgtcacc aagagctggt gtctcctgca tgaggggcat gcacccctgg
     2761 aatgagggtc tgtgcctcga gctcaaagtg tcccggctct gtcatctgcc tgaagttgcc
     2821 tggcttttcc agtggggcct ccttgagtgc tgcagcatct gggagcatcc tagcctgtcc
     2881 cgtgggtgtg gctgggtgag ggctaggagg tgagccagga aggaagcact ccactccaga
     2941 gtgaggtgcc gcctgagcca tcctgtgccc cctcagtgtc ttcaggtctc tgcaggtgtc
     3001 aggatctcaa aatacttggt tcagatcaaa cacatttcgt gttcttctgt gtcctttttt
     3061 tttttttttt ttttttttga gatggagtct tgctctgttg gccaggctgg agctcagtgg
     3121 cacaatctct gctcactgca acctctgcct cccaggttcc agtgattttc ctgcctcagc
     3181 ctcctgggta gctgggacta caggcacatg ccccatgccc ggctaatttt tgtattttta
     3241 gtagagatgg ggttttacca tgttggccag gatggtctca attacaggca tgagccactg
     3301 tgcccagcct cttctgtgtc tttaaaaagg aaagtgtcag tcaacaaaag agcccctctg
     3361 tcatacaaac caaatcagtt ttcaccaaaa tgtccttagt cctctcagaa aggcctggcc
     3421 tttaggacct tggaagcagg ccctaaagcg catcggcagg gtcagagctt tgtgttcagg
     3481 aacactggga tctgctgaga gctggtgtag ccgctccaaa actgcacact gcttttcctg
     3541 tctgctttag tttgtgttgt aaaaacatag gaagttcgtg tgtgtgtgtg tgtgtgtgaa
     3601 ttcaaggcat aaggtgcagt tgtgttatgt gggtatagtg catggtggtg cagtctgggc
     3661 ttcttaccct cacacctcct gcctcccctc gttagagtcc cccacatccg ccttccactt
     3721 tctgagccca cattgcctgt tgggcagctc ctggttatga ggcaggacgt gtggtgtttg
     3781 actgtctgtt tctgagctgt tttacttaac acagtgtata tggtgcatct ttaggaaagc
     3841 atgcttgtat tttcctttca aagccagata tgggcgggtg tggtggctca tgcctgtgat
     3901 cccagcactt tgggaggccg aggcaggagg attgcttgag cccaggagtt tgagagcagc
     3961 ctgggcaaca tatcaagact ctgtctctta aaaaaaaaaa aattagccag gcatggtggt
     4021 ccacacctgt ggtcccacct attcgggagg ctgaagtgcg aggatcactt gagcccagga
     4081 ggttgaggct gcagtgagct gtgattgtgc cactgcactc cagcctgggc aacagagcaa
     4141 gaccctgtct taaaacaaag aaagaataaa aaagaagaga agttgcagtt ggtagtattt
     4201 ccagagcccg gcagacagtg tagaaactgt gagaaaccca cctccaaatc aggccttaga
     4261 tagaaaacat cctaagaagt atacgttcat tgtaaaatca ttatcatcat catcttctaa
     4321 tccccaagga gacaagctcc ctgttctgtg ttcttgtatg aggcggtcag tcaagcgcag
     4381 cccgagagga gaggcaggag cctgggagag cctctgctag acctttcctg gcacttcccc
     4441 aggaaaggca aggcagggca gatgtgcggc tggccagctg gagtgatttc catgggctcc
     4501 aagctgtagg agtggtccct ggctgccaga gtgctctggc cagatagagg tgggctctgg
     4561 actggtgagg ctgcattgcg gaggcgcgca cacccagctg ggcccttatc tgtaaggact
     4621 ggctggcctg ggaggggcag tctcccagcc agaaggtgga attttttttt ttttttgaga
     4681 taccaaaaca tcctaaggta caggaaagaa attgtcaaca cacacacaca gtaccataaa
     4741 caaggcccag cagaaaggca gacagaagca cacacaccaa tgttctgatc ttagagtaag
     4801 cagacacatc acatggaatg aggatgttta atatatttaa agaaaacaat ttatgcacag
     4861 gaagcaagag actataaaaa tgaccaagca gattttaaaa agagaacttg ttgaaataaa
     4921 aataaaatac tctaaaaaat attccatgat gtgtttcctg aagaatcggg aactgtttga
     4981 agaaatgacc caaagtgcag cacagaaaga cagagctgga aaatatgaga tgggatgaga
     5041 caagaagatg gagagtttag tatgacatcc gcaatttacg agtaattcca gaaggagggg
     5101 aaagagaata tggggtggag gcaagtattc agagaaatac ggctgagaac tttcccaaac
     5161 caacaggagc ccctgctcct taggttcagg aaccagcagc tcccaagcag catagttaaa
     5221 aagctctacc caaacagtca cgtcttggtg aaagtacaga atctcatgac aaagagatct
     5281 taaggcagaa aagaaagaga ttatctggaa agaagaaaat aagtagttga ttaaaagcaa
     5341 cagtggaagc cagaaagata gtaaataata tcttcaaagt cctgggagaa aatagtgata
     5401 gcctagaatt gtgtacccag aaaatccgtc tttcaagaat gaggggccag gcgcagtggc
     5461 tcacgtctgt attcccagca ctttgggagg ccaaggcagg tggatcacct gaggtcagga
     5521 gttcaagacc agcctgatca acatggtgaa accctgtctc tactaaaaat ataaaaatta
     5581 gctgggtgtg gtggcatatt cctgtaatcc cagctactcg ggaggctgag gcaggagaat
     5641 cacttgaacc caggaggcag aggttgcagt gagccaagat tgtgccattg cactccagcc
     5701 tgggcaatag aatgagactc tgtctcaaaa aaaaaaaaaa aaaaaaaaaa aaaaagaggg
     5761 ctaaacgcat tttcatacca cgaaactgcc ctcactccgg agtttgctgc cagcagagcc
     5821 tagagcgtct aaggcatgtc tgggcttctg gcgagggatc ctgtggggaa gctggagatg
     5881 gaagaaggag tgaataggca ggaaggtgga tttgtgggca tgtctaaaac accacatcta
     5941 gaagcttcta cttagaatgc ctacttttgg agtttataaa aaagatgcca catgttgagt
     6001 tgggagagag gtgcccaaac ctacagtgtt ctaaagtccc cctactggtc ggaaggaggg
     6061 cacggacact gacttcagca tctgttacaa ggcttatcag agttttcaga taatctctaa
     6121 aagaatggaa atatatcttc caaactatag agggaagacc atggaattta aaagccagtc
     6181 cttcaaggag aaatgaacaa actcaaaatc gtagttggga gtgttttttt tttttttgag
     6241 acagagtctc actcttgccc aggctggagt ggagtggcat aaacacagct cactacagcc
     6301 tcaaccttct gggctcagat gattctcctg cctcagcctc ctgagtagca ggaactacag
     6361 gtgtgagtca tcacactcag ctaatttttt tttttttttt ttactttttg tagagatggg
     6421 gttctcactg cattgcccag gctggtcttg aatttctggg ctcaggtgat cttcccacct
     6481 cagcctcctg agtagctggg accacaggtg catgctaatt tttaaaattt tttgttttta
     6541 aatgctggtc ttcaactctt gtccccaagt agctgggatt ggggcatgag gcactgtgct
     6601 aacttcatgt tgaaattgaa ttgccattct aacagtgtta agagatgggg cctgtaagag
     6661 gtgattaggc tgtgagggct ccactctcca agggcggagt taatgttatg aaagggtaag
     6721 tccagcccgc ttgtgcctct cttgccctcc agtgttcaaa gcaccatctt ggaggtggaa
     6781 ttcccaagtc ggccagttcc tggatcttgg actgtccggt ctccagaacc gtgagccaat
     6841 aaacctctgt tccttgtaaa tgagtcagcc tcaggtattc tcttgtagca gcacaaatgg
     6901 aggcagacac ttccttcacc aatctcatgg gaggcccact cctgtgagct gcctctagtt
     6961 ccccaggcca cagactccat cagggctcac ctggagccgt ccctgtctca cctggaagct
     7021 ctcccactcc tctggccagc ctgggcatct ccacccaata tgagtgatgg cgactgattc
     7081 ccttacttta gcaagctggg aataaggaat gtttgcctgt tcttattcag gggtctctgc
     7141 atctccacac ttgcacaggt tgtgtgtaca tacattttcc tgtctttctg gtaagcccct
     7201 ggggtggagc tctgggccac agggcaggaa aactcagtgt tgctaggaac tgccagacat
     7261 tttcccggag tgagtgcagc atttacattc ccaccagaag tgtgccaggt tcttgtcata
     7321 ctgcgtcctc gccagcgctt ggtgctgtca gtcttcttag tttccattta gagattcagt
     7381 gtttaaattt tgaacgtctt gggtgaacac cttggtttga gaaaagtaag aaaaagggtc
     7441 tgtctggcta tgggccatgg agacccaggg cagtgctcca cgtgccaacc ctggggcagg
     7501 gagcccaagc taggactgtg actgtctggg ctgtgggcat ctgaccatct ccagtgtccc
     7561 cgtctttgat ttccctggcg atggtgctag cttagtttgt gcgcatcggc atttgtggga
     7621 gaaatgaagg attaatacat tttgttttat gtcagactct ctcagtgaga agttctcagg
     7681 gacaataata gcagggggtc ctgctgaaga aaaactggga gatggctgag ctctggtcca
     7741 tctttcattg attcattcat ttcttcattc attcaaccat gtattgaatg cttatagcca
     7801 atgaaaataa agtacacagt atatttta
//
LOCUS       NM_001010868            1344 bp    mRNA    linear   PRI 02-JUN-2022
DEFINITION  Homo sapiens chromosome 6 open reading frame 163 (C6orf163), mRNA.
ACCESSION   NM_001010868
VERSION     NM_001010868.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1344)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.218168.1,
            ERR3218367.244227.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000388923.5/ ENSP00000373575.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL096817.12.
            On Nov 22, 2018 this sequence version replaced NM_001010868.2.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1344
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q15"
     gene            1..1344
                     /gene="C6orf163"
                     /note="chromosome 6 open reading frame 163"
                     /db_xref="GeneID:206412"
                     /db_xref="HGNC:HGNC:21403"
     misc_feature    276..278
                     /gene="C6orf163"
                     /note="upstream in-frame stop codon"
     CDS             288..1277
                     /gene="C6orf163"
                     /codon_start=1
                     /product="uncharacterized protein C6orf163"
                     /protein_id="NP_001010868.2"
                     /db_xref="CCDS:CCDS55042.1"
                     /db_xref="GeneID:206412"
                     /db_xref="HGNC:HGNC:21403"
                     /translation="MIRNSDYKNFVCCAVCNKIIPPAPFGKTFKRIHEYKPLKTRFYTH
                     KDILDIGANILKKEEQFQEDILREHIAKAEAEVWAQANERQKQAVEKALEEANDRHKIE
                     IQILKEEHQKDLQEVTAKTKTEMYQNMDDEMKREHLAAEQRMVHRIQRIMMECHREKVE
                     AVEKARAEERHIAQEAIQAQKSKAVEEIVNTGVTVIKDEKTSVARLMREKEHEMSILYG
                     IAQRQRQEEVQEVLQEAEKTHQATLGNMMDKLANTQGELLSIAKQLGIMTNWKDFLEEE
                     LQETRMAFQKYINYTFPKLSPGHADFILPERKKTPSNLVIKENKTTLD"
     regulatory      1324..1329
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6orf163"
                     /note="hexamer: AATAAA"
     polyA_site      1344
                     /gene="C6orf163"
                     /note="major polyA site"
ORIGIN
        1 aagttaacaa cttaatgcta gagtctggga aggagcaact acttaaatct tcccaaatct
       61 ggtgcccata ccttctatgg caggggcttt tagcaccatt ctttaacgtt agacacataa
      121 ccacagccta atcacttgaa ccatttaatc cttaccagcc tctagcatta tcctaaaacc
      181 ctgaacctct tccagctttc ttaaactttc agcttttctt gaaacgactt tttctgattc
      241 taagattatt ttaactgtaa gtaggagaag acatctgaaa tttaactatg atcagaaatt
      301 cagattacaa aaactttgtt tgctgtgctg tttgtaataa aataattcca ccagcccctt
      361 ttggaaaaac cttcaaacgg atccatgaat acaagccact taagacacgc ttttacactc
      421 acaaagacat actagatatt ggggcaaata ttctgaaaaa agaagagcag tttcaagaag
      481 atatactcag agaacacatt gcgaaagcag aagctgaagt atgggctcag gctaatgaac
      541 gtcaaaaaca agcagtggag aaagcacttg aagaagcaaa tgacagacac aaaattgaaa
      601 ttcagatttt gaaagaggaa catcagaaag atttacagga agtgacagct aaaactaaga
      661 cagagatgta tcaaaacatg gatgacgaaa tgaagagaga gcacttggct gcagaacagc
      721 gcatggtcca cagaatccaa aggattatga tggaatgcca cagagagaag gtcgaagctg
      781 tggagaaagc cagggctgaa gaaagacaca tcgcccagga agcaatccag gcccagaaaa
      841 gcaaagccgt ggaggaaatt gtgaatactg gtgtcacagt tattaaggat gagaagacca
      901 gtgtggcccg actgatgagg gaaaaagaac atgaaatgag catcctctat ggcatagctc
      961 agaggcagag gcaagaagag gtacaggaag tgcttcaaga agcagagaaa acacatcagg
     1021 ccactcttgg caatatgatg gataaactgg ctaacaccca gggggagctg ctgtctatag
     1081 caaaacaact gggaatcatg acaaattgga aagatttcct agaggaggaa ttacaggaaa
     1141 ccaggatggc atttcaaaaa tacatcaatt atacctttcc taagctttca ccaggacatg
     1201 cagattttat tctgccagaa agaaagaaaa caccttctaa tcttgttatt aaggagaaca
     1261 aaacaactct tgattagaag tcttcagttg aaattccact acaaaagaca tcattccaga
     1321 ctaaataaat ttactcaaaa acca
//
LOCUS       NM_001010870            8967 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens tudor domain containing 6 (TDRD6), transcript variant
            1, mRNA.
ACCESSION   NM_001010870
VERSION     NM_001010870.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8967)
  AUTHORS   Sha YW, Wang X, Su ZY, Wang C, Ji ZY, Mei LB, Zhang L, Deng BB,
            Huang XJ, Yan W, Chen J, Li P, Cui YQ, Qu QL, Yin C and He XM.
  TITLE     TDRD6 is associated with oligoasthenoteratozoospermia by sequencing
            the patient from a consanguineous family
  JOURNAL   Gene 659, 84-88 (2018)
   PUBMED   29551503
  REMARK    GeneRIF: Whole-exome sequencing results in a patient with
            oligoasthenoteratozoospermia (OAT) from a consanguineous family
            identified a rare homozygous variant in TDRD6 which co-segregated
            with the OAT phenotype.
REFERENCE   2  (bases 1 to 8967)
  AUTHORS   Fanourgakis G, Lesche M, Akpinar M, Dahl A and Jessberger R.
  TITLE     Chromatoid Body Protein TDRD6 Supports Long 3' UTR Triggered
            Nonsense Mediated mRNA Decay
  JOURNAL   PLoS Genet 12 (5), e1005857 (2016)
   PUBMED   27149095
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 8967)
  AUTHORS   Vasileva A, Tiedau D, Firooznia A, Muller-Reichert T and Jessberger
            R.
  TITLE     Tdrd6 is required for spermiogenesis, chromatoid body architecture,
            and regulation of miRNA expression
  JOURNAL   Curr Biol 19 (8), 630-639 (2009)
   PUBMED   19345099
REFERENCE   4  (bases 1 to 8967)
  AUTHORS   Bensing S, Fetissov SO, Mulder J, Perheentupa J, Gustafsson J,
            Husebye ES, Oscarson M, Ekwall O, Crock PA, Hokfelt T, Hulting AL
            and Kampe O.
  TITLE     Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1
  JOURNAL   Proc Natl Acad Sci U S A 104 (3), 949-954 (2007)
   PUBMED   17215373
REFERENCE   5  (bases 1 to 8967)
  AUTHORS   Hosokawa M, Shoji M, Kitamura K, Tanaka T, Noce T, Chuma S and
            Nakatsuji N.
  TITLE     Tudor-related proteins TDRD1/MTR-1, TDRD6 and TDRD7/TRAP: domain
            composition, intracellular localization, and function in male germ
            cells in mice
  JOURNAL   Dev Biol 301 (1), 38-52 (2007)
   PUBMED   17141210
REFERENCE   6  (bases 1 to 8967)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   7  (bases 1 to 8967)
  AUTHORS   Scanlan MJ, Chen YT, Williamson B, Gure AO, Stockert E, Gordan JD,
            Tureci O, Sahin U, Pfreundschuh M and Old LJ.
  TITLE     Characterization of human colon cancer antigens recognized by
            autologous antibodies
  JOURNAL   Int J Cancer 76 (5), 652-658 (1998)
   PUBMED   9610721
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CR936792.1, SRR1803617.96620.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145544 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000316081.11/ ENSP00000346065.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK131455.1 and AL591242.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001010870.2.
            Summary: This gene encodes a tudor domain-containing protein and
            component of the chromatoid body, a type of ribonucleoprotein
            granule present in male germ cells. Studies in rodents have
            demonstrated a role for the encoded protein in spermiogenesis and
            the nonsense mediated decay (NMD) pathway. This protein is a major
            autoantigen in human patients with autoimmune polyendocrine
            syndrome type 1 (APS1). [provided by RefSeq, Oct 2016].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8967
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.3"
     gene            1..8967
                     /gene="TDRD6"
                     /gene_synonym="bA446F17.4; CT41.2; NY-CO-45; SPATA36; TDR2"
                     /note="tudor domain containing 6"
                     /db_xref="GeneID:221400"
                     /db_xref="HGNC:HGNC:21339"
                     /db_xref="MIM:611200"
     misc_feature    194..196
                     /gene="TDRD6"
                     /gene_synonym="bA446F17.4; CT41.2; NY-CO-45; SPATA36; TDR2"
                     /note="upstream in-frame stop codon"
     CDS             245..6535
                     /gene="TDRD6"
                     /gene_synonym="bA446F17.4; CT41.2; NY-CO-45; SPATA36; TDR2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cancer/testis antigen 41.2; tudor domain-containing protein
                     6; antigen NY-CO-45; spermatogenesis associated 36"
                     /codon_start=1
                     /product="tudor domain-containing protein 6 isoform 1"
                     /protein_id="NP_001010870.1"
                     /db_xref="CCDS:CCDS34470.1"
                     /db_xref="GeneID:221400"
                     /db_xref="HGNC:HGNC:21339"
                     /db_xref="MIM:611200"
                     /translation="MCSTPGMPAPGASLALRVSFVDVHPDVIPVQLWGLVGERRGEYLR
                     LSREIQEAAATRGQWALGSASASPGELCLVQVGLLWHRCRVVSRQAQESRVFLLDEGRT
                     ITAGAGSLAPGRREFFNLPSEVLGCVLAGLVPAGCGAGSGEPPQHWPADAVDFLSNLQG
                     KEVHGCVLDVLLLHRLVLLEVPDVFQQMRELGLARRVPDSLFRSLLERYLTAATASVGS
                     GVPVLSRVPLKQKQPGLDYFYPQLQLGVTEAVVITQVCHPHRIHCQLRSVSQEIHRLSE
                     SMAQVYRGSTGTGDENSTSATWEEREESPDKPGSPCASCGLDGHWYRALLLETFRPQRC
                     AQVLHVDYGRKELVSCSSLRYLLPEYFRMPVVTYPCALYGLWDGGRGWSRSQVGDLKTL
                     ILGKAVNAKIEFYCSFEHVYYVSLYGEDGINLNRVFGVQSCCLADRVLQSQATEEEEPE
                     TSQSQSPAEEVDEEISLPALRSIRLKMNAFYDAQVEFVKNPSEFWIRLRKHNVTFSKLM
                     RRMCGFYSSASKLDGVVLKPEPDDLCCVKWKENGYYRAIVTKLDDKSVDVFLVDRGNSE
                     NVDWYDVRMLLPQFRQLPILAVKCTLADIWPLGKTWSQEAVSFFKKTVLHKELVIHILD
                     KQDHQYVIEILDESRTGEENISKVIAQAGYAKYQEFETKENILVNAHSPGHVSNHFTTE
                     SNKIPFAKTGEGEQKAKRENKTTSVSKALSDTTVVTNGSTELVVQEKVKRASVYFPLMQ
                     NCLEIKPGSSSKGELEVGSTVEVRVSYVENPGYFWCQLTRNIQGLKTLMSDIQYYCKNT
                     AAPHQRNTLACLAKRTVNRQWSRALISGIQSVEHVNVTFVDYGDREMVSVKNIYSISEE
                     FLKVKAQAFRCSLYNLIQPVGQNPFVWDVKAIQAFNEFIDNAWQKNLELKCTIFALASI
                     NEELFNIVDLLTPFQSACHFLVEKRLARPVKLQKPLESSVQLHSYFYSTHDMKIGSEEL
                     VYITHIDDPWTFYCQLARNANILEQLSCSITQLSKVLLNLKTSPLNPGTLCLAKYTDGN
                     WYRGIVIEKEPKKVFFVDFGNIYVVTSDDLLPIPSDAYDVLLLPMQAVRCSLSDIPDHI
                     PEEVVVWFQETILDKSLKALVVAKDPDGTLIIELYGDNIQISASINKKLGLLSYKDRIR
                     KKESEVLCSTTETLEEKNENMKLPCTEYLSKSVGYKLPNKEILEESYKPQINSSYKELK
                     LLQSLTKTNLVTQYQDSVGNKNSQVFPLTTEKKEEISAETPLKTARVEATLSERKIGDS
                     CDKDLPLKFCEFPQKTIMPGFKTTVYVSHINDLSDFYVQLIEDEAEISHLSERLNSVKT
                     RPEYYVGPPLQRGDMICAVFPEDNLWYRAVIKEQQPNDLLSVQFIDYGNVSVVHTNKIG
                     RLDLVNAILPGLCIHCSLQGFEVPDNKNSKKMMHYFSQRTSEAAIRCEFVKFQDRWEVI
                     LADEHGIIADDMISRYALSEKSQVELSTQVIKSASSKSVNKSDIDTSVFLNWYNPEKKM
                     IRAYATVIDGPEYFWCQFADTEKLQCLEVEVQTAGEQVADRRNCIPCPYIGDPCIVRYR
                     EDGHYYRALITNICEDYLVSVRLVDFGNIEDCVDPKALWAIPSELLSVPMQAFPCCLSG
                     FNISEGLCSQEGNDYFYEIITEDVLEITILEIRRDVCDIPLAIVDLKSKGKSINEKMEK
                     YSKTGIKSALPYENIDSEIKQTLGSYNLDVGLKKLSNKAVQNKIYMEQQTDELAEITEK
                     DVNIIGTKPSNFRDPKTDNICEGFENPCKDKIDTEELEGELECHLVDKAEFDDKYLITG
                     FNTLLPHANETKEILELNSLEVPLSPDDESKEFLELESIELQNSLVVDEEKGELSPVPP
                     NVPLSQECVTKGAMELFTLQLPLSCEAEKQPELELPTAQLPLDDKMDPLSLGVSQKAQE
                     SMCTEDMRKSSCVESFDDQRRMSLHLHGADCDPKTQNEMNICEEEFVEYKNRDAISALM
                     PLFSEEESSDGSKHNNGLPDHISAQLQNTYTLKAFTVGSKCVVWSSLRNTWSKCEILET
                     AEEGTRVLNLSNGMEEIVNPENVWNGIPKLDKSPPEKRGLEVMEI"
     misc_feature    1103..1192
                     /gene="TDRD6"
                     /gene_synonym="bA446F17.4; CT41.2; NY-CO-45; SPATA36; TDR2"
                     /note="propagated from UniProtKB/Swiss-Prot (O60522.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1121..1123
                     /gene="TDRD6"
                     /gene_synonym="bA446F17.4; CT41.2; NY-CO-45; SPATA36; TDR2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P61407; propagated from
                     UniProtKB/Swiss-Prot (O60522.2); phosphorylation site"
     misc_feature    5408..5410
                     /gene="TDRD6"
                     /gene_synonym="bA446F17.4; CT41.2; NY-CO-45; SPATA36; TDR2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P61407; propagated from
                     UniProtKB/Swiss-Prot (O60522.2); phosphorylation site"
     misc_feature    6428..6430
                     /gene="TDRD6"
                     /gene_synonym="bA446F17.4; CT41.2; NY-CO-45; SPATA36; TDR2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P61407; propagated from
                     UniProtKB/Swiss-Prot (O60522.2); phosphorylation site"
     regulatory      7041..7046
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TDRD6"
                     /gene_synonym="bA446F17.4; CT41.2; NY-CO-45; SPATA36; TDR2"
                     /note="hexamer: AATAAA"
     regulatory      7058..7063
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TDRD6"
                     /gene_synonym="bA446F17.4; CT41.2; NY-CO-45; SPATA36; TDR2"
                     /note="hexamer: AATAAA"
     polyA_site      7063
                     /gene="TDRD6"
                     /gene_synonym="bA446F17.4; CT41.2; NY-CO-45; SPATA36; TDR2"
                     /note="major polyA site"
     polyA_site      7077
                     /gene="TDRD6"
                     /gene_synonym="bA446F17.4; CT41.2; NY-CO-45; SPATA36; TDR2"
     regulatory      8379..8384
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TDRD6"
                     /gene_synonym="bA446F17.4; CT41.2; NY-CO-45; SPATA36; TDR2"
                     /note="hexamer: AATAAA"
     polyA_site      8410
                     /gene="TDRD6"
                     /gene_synonym="bA446F17.4; CT41.2; NY-CO-45; SPATA36; TDR2"
     regulatory      8945..8950
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TDRD6"
                     /gene_synonym="bA446F17.4; CT41.2; NY-CO-45; SPATA36; TDR2"
                     /note="hexamer: ATTAAA"
     polyA_site      8967
                     /gene="TDRD6"
                     /gene_synonym="bA446F17.4; CT41.2; NY-CO-45; SPATA36; TDR2"
ORIGIN
        1 gtgcccggaa gcgcgacctc gggcggttgg aggggctacc gggtcttacc agtccgtggc
       61 gggagtcccg gaggaccctc gacgggggag ttgccgagaa aaggcctcgc cggcattctt
      121 cccctccact gggtcctttg aacctagttt ggctgggact cgccttcagg cggcgcggag
      181 gatttcgagg ccctgaggcg cggcccttaa tttccggaag tgggggccgc gccgcgccgt
      241 caagatgtgc tcgacgcccg gaatgccggc gccgggggcc tcgctggccc tgcgggtgtc
      301 cttcgtggac gtgcatcccg atgtgatccc ggtgcagctg tgggggctgg tgggcgagcg
      361 gcggggcgag tacctgcggc tgagccggga aatccaggaa gcggcggcca cgcgcggcca
      421 gtgggcgctg ggcagcgcct cggcctcgcc cggcgagctg tgcctggtgc aggtcgggct
      481 tttgtggcac cgctgccgcg tggtcagccg gcaggcacag gagagccgtg tcttcctgct
      541 ggacgagggc cgcaccatca cggccggagc aggctcgctg gcgcctgggc gcagagagtt
      601 cttcaatttg ccctcggaag tgctgggctg cgtgctagcg ggcctggtgc cggcaggctg
      661 cggcgcgggc tcaggcgagc cgccgcagca ctggcccgcc gacgccgtgg acttccttag
      721 caaccttcag ggcaaggagg tgcacgggtg cgtcctggac gtgctgctgc tccatcgcct
      781 ggtcctcctg gaggtgcctg atgtgttcca acagatgcgg gagctgggcc tggctcggcg
      841 ggtgcccgac agcctcttcc gttcgctgct ggagcgctat ctcacagcgg ccactgctag
      901 cgtgggctcc ggggtcccgg ttctctcgcg agtcccgctc aagcaaaagc agcctggtct
      961 ggattacttc tatccccagc tgcagctggg cgtgacggag gccgtggtca taacccaagt
     1021 gtgccatccc caccgcattc actgccagct ccgcagcgtc tcgcaggaga tccaccgcct
     1081 ctccgagagc atggcccagg tataccgggg ttccacgggg acaggggatg agaactctac
     1141 cagtgccacc tgggaggaga gggaggagag cccagataag ccgggctctc cgtgtgcatc
     1201 ctgtggcctg gatggacatt ggtacagagc actgttgctt gagacttttc ggccccagcg
     1261 ctgtgcccag gtgcttcatg tggactatgg aaggaaggag ttagtgagtt gcagcagcct
     1321 tcggtacttg ctgcctgaat attttcgaat gccggtggtg acctaccctt gtgctttgta
     1381 tggactctgg gacggtggga gaggctggtc tcggtcacag gtcggtgacc tgaagacact
     1441 gatactaggc aaggcagtga atgcaaagat tgaattttat tgctcctttg agcatgtgta
     1501 ttatgtcagc ctgtatggag aagatgggat taatctgaac cgtgtgtttg gagtacagtc
     1561 gtgttgcttg gctgaccgag tccttcagag ccaggcaaca gaggaggagg aaccagaaac
     1621 atctcagtct cagtctcctg ctgaagaagt agatgaagag atttcactcc cagccttaag
     1681 atctatcagg ttaaagatga atgccttcta cgatgcgcag gtagagtttg ttaaaaatcc
     1741 ttctgagttt tggattaggt tgaggaaaca caatgtcacc ttcagtaagc tgatgaggag
     1801 aatgtgtggt ttctattcct ctgccagtaa gctggatggt gtagttttga aacctgaacc
     1861 tgatgacctt tgctgtgtca agtggaaaga aaatggttat tatagggcca tagtcaccaa
     1921 attggatgac aagagtgtgg atgtattctt agttgaccga ggcaattcgg aaaatgtgga
     1981 ctggtatgac gtaaggatgc tgcttcctca gtttaggcag ctaccaatat tggctgtgaa
     2041 gtgcaccctg gctgatattt ggcctttggg aaaaacttgg agccaggagg cagtttcctt
     2101 ttttaaaaag actgtgctcc acaaagaatt agtcatccat attcttgata aacaggatca
     2161 tcaatatgtt attgagattc ttgacgaatc aagaacaggg gaagaaaaca ttagtaaggt
     2221 aattgcccaa gctggatatg ccaagtatca ggaatttgaa acaaaggaaa atatcctggt
     2281 aaatgcccac tccccagggc atgtttcaaa ccactttact acggagagta acaaaatacc
     2341 ttttgccaag actggagaag gagagcagaa agccaagaga gagaataaaa ccacatctgt
     2401 ttcaaaagct ttgagtgaca caacagttgt aacaaatggt tcaactgaac tagttgtgca
     2461 ggaaaaagtg aaaagagcat ctgtttattt tcctcttatg cagaattgct tggaaattaa
     2521 gccaggctcc tctagtaaag gagagctgga agttggaagt acagtagaag tcagagtgtc
     2581 ttatgttgaa aaccctggct atttctggtg tcagctgacc aggaacatac aaggacttaa
     2641 aactctaatg tctgatattc agtactattg caaaaataca gctgctcctc accagagaaa
     2701 cacccttgct tgtttggcta agcgaacagt aaacagacag tggtccagag cacttattag
     2761 tgggatacag tctgtggagc atgtcaatgt aacatttgta gattatggag acagagaaat
     2821 ggtatctgtg aagaatattt attcaattag tgaagaattt ctgaaggtta aggcacaggc
     2881 ttttaggtgc agtctttata atttaattca accagttggc cagaatccct ttgtttggga
     2941 tgtaaaggca atacaagctt tcaatgaatt tatagataat gcatggcaaa aaaatctaga
     3001 attaaaatgt acaatatttg ctctggcttc aattaatgaa gaactgttta acattgtgga
     3061 tttgctaacc ccctttcaga gtgcatgcca tttcttggta gaaaagagac ttgcaagacc
     3121 agtaaaactt cagaagcctt tggagtcctc tgttcagcta cattcctact tctattctac
     3181 acatgatatg aaaattggaa gtgaagaatt agtttatata acgcatattg atgacccttg
     3241 gacattttat tgccagctgg caagaaatgc aaatatttta gaacagttgt catgtagtat
     3301 tacacaatta agtaaagttt tgctgaattt aaaaacatct cccttgaacc ctggaacctt
     3361 gtgccttgcc aagtatactg atggaaactg gtataggggc atagtaatag agaaagagcc
     3421 aaagaaagtc ttctttgttg attttgggaa tatttatgta gtaacaagtg atgatctgct
     3481 tccaatacct agtgatgcat atgatgtctt acttttgccc atgcaagctg tcagatgttc
     3541 attatctgat attcctgatc atataccaga agaagtggtg gtgtggtttc aggagactat
     3601 tttagataag tcattgaagg ctttagttgt agcaaaagat ccagatggaa cactgattat
     3661 agaactatat ggtgacaata ttcaaattag tgctagtatt aataagaagt tggggctact
     3721 tagttacaaa gatagaataa gaaaaaaaga aagtgaagtc ctctgttcta caactgaaac
     3781 tcttgaagaa aaaaatgaga atatgaagtt gccatgtaca gagtatttaa gtaaatcagt
     3841 agggtacaag ttacctaata aagaaatttt ggaagagtca tataaacctc agatcaactc
     3901 atcatacaag gaactcaaac ttttacaaag tttaacaaaa acaaacttag tcactcaata
     3961 tcaagactct gtgggaaata aaaatagtca agtgtttcca ttaacaacag aaaagaaaga
     4021 agaaatttct gctgagacac ccttgaaaac agcaagagta gaagctactc tttcagagag
     4081 aaaaatagga gattcatgtg acaaagattt gcctctgaaa ttttgtgagt tcccacagaa
     4141 gactataatg cctggattta aaacaactgt atatgtttct catataaatg acctttcaga
     4201 cttttatgtt caactaatag aagatgaagc tgaaattagt catctttcag agagattaaa
     4261 cagtgttaaa acaaggcccg aatattatgt aggtccacct ttgcaaagag gagatatgat
     4321 atgtgctgtt ttcccagaag ataatttatg gtatcgtgct gtgatcaagg agcaacaacc
     4381 caatgacctt ctctctgtgc agtttataga ttatggcaat gtttctgtgg ttcatactaa
     4441 caaaataggt aggcttgacc ttgttaatgc aatattgccg gggttgtgca ttcattgctc
     4501 cttgcaggga tttgaggttc ctgacaataa aaattctaag aaaatgatgc attacttttc
     4561 ccaacggacc agcgaggctg caataagatg tgaatttgtt aaatttcaag acagatggga
     4621 agttattctt gctgatgaac atgggatcat agcagatgat atgattagca ggtatgctct
     4681 cagtgaaaaa tctcaagtag aactttctac ccaagtaatt aaaagtgcca gttcaaagtc
     4741 tgttaacaaa tcagacattg acacttcagt atttcttaac tggtataatc cagaaaaaaa
     4801 aatgataaga gcttatgcca ctgtgataga tggacctgag tacttttggt gtcagtttgc
     4861 tgatacggag aaacttcagt gtttagaagt agaagtacag actgctggag aacaggtagc
     4921 agacaggaga aattgtatcc catgtcctta tattggagat ccttgtatag taagatacag
     4981 agaagatgga cattattata gggcacttat cactaatatt tgtgaagatt atcttgtatc
     5041 tgtcaggctt gtggactttg gaaacattga agactgtgtg gacccaaaag cactctgggc
     5101 cattccttct gaacttctgt cggttcccat gcaagccttt ccatgttgcc tctcagggtt
     5161 taacatttca gaaggattat gttctcaaga gggaaatgac tatttctatg aaataataac
     5221 agaagatgtg ttggaaataa caatactaga aatcagaagg gatgtttgtg atatcccttt
     5281 agcaattgtt gacttgaaaa gcaaaggtaa aagtattaat gagaaaatgg agaaatattc
     5341 taagactggt attaaaagtg ctcttcccta tgaaaatatt gactcagaga taaagcagac
     5401 tcttgggtcc tacaatcttg atgtaggact taagaaatta agtaataaag ctgtacaaaa
     5461 taaaatatat atggaacaac agacagatga gcttgctgaa ataactgaaa aagatgtaaa
     5521 cattattgga accaaaccaa gtaacttccg tgaccctaaa actgataaca tttgtgaagg
     5581 gtttgaaaac ccctgcaaag ataaaattga tactgaggaa ctggaaggtg aattagagtg
     5641 ccatctggtt gacaaagcag agtttgatga taaatacctg attacaggat ttaacacatt
     5701 actaccacat gctaatgaaa caaaggagat actagaactg aattcacttg aggtgccgct
     5761 ttctcctgat gatgaatcaa aagaattctt agaactggaa tctattgagt tacagaattc
     5821 tctggtggtg gatgaagaaa aaggggagct aagcccggtg ccaccgaatg tgccactctc
     5881 ccaagagtgt gtcacaaaag gcgccatgga gctatttaca ctgcagcttc ctctcagctg
     5941 tgaagctgag aaacagccag aactagaact acctacagcc cagctgcctt tagatgacaa
     6001 gatggatcct ttgtctttag gagttagtca gaaagcacag gaatccatgt gtactgagga
     6061 catgagaaag tcaagttgtg tagaatcttt tgatgaccag cgcaggatgt cattgcatct
     6121 acatggagca gattgtgatc ctaaaacaca gaatgaaatg aatatatgtg aagaagaatt
     6181 tgtagagtat aaaaacaggg atgccatttc ggcattgatg cctttgttct ctgaggaaga
     6241 aagcagtgat ggaagcaagc acaataatgg tttaccagat catatctcag ctcaactaca
     6301 gaacacctac actctgaaag cctttactgt tggatctaaa tgtgttgtgt ggtcaagtct
     6361 aagaaacaca tggtctaaat gtgagatttt agaaacagct gaagaaggaa caagggtttt
     6421 gaacctttca aatggtatgg aggagatagt gaaccctgag aatgtctgga atggcatacc
     6481 caaattggat aagagtccac ctgagaaaag gggtttggag gtgatggaga tttaaccgtg
     6541 gatctatagc tgtggccaat cagtcagaag ctgcccttga acaagtggca tcttacgcag
     6601 accaacagag tatttgagaa aattgaaaac atgtaaccac aagaagttgt cattttcaaa
     6661 aacttctata taggtggaaa acaaattagg tctcaggttg atggtggggt gtgtttatag
     6721 tgatcctgtt atatatacag atctgggatc tttcgtcttt attgtcttac gtttctaatt
     6781 agttgggagg atttattttg ctaaacagtt tactaacaca ttacatttca aaaactattt
     6841 tggtaccttt caaatacagt gtttaaatta aaatagaaaa ataagggctc atgacaagta
     6901 cattatttga ttctacttag gatagctttt tagcaggatc tccttcagaa tttttgtctt
     6961 gactttgaat ctttgcctgt ttgtctaaac atttgactaa cattctgttt gaatttggaa
     7021 gtattctaat acaagatttg aataaagttt atccttaaat aaagtttatc cttaatatga
     7081 tggtctcatt ttattaaaaa ggaaatagaa ctcttaaata tacttggttc catctctcct
     7141 ctgtaatgga ggattgggga aagcatagta atattaaatg ttagctctta tgtattagtc
     7201 acttagctta tactttaaat gcattttttc actttattca tcaactttga agtgcatatc
     7261 aatattatcc atattttata ggtgagaaaa ttgaagcttc ataaagaggt taaataactt
     7321 gcctaaggtc agatagctga tgagtctcag aggcttgatc aaacccagac ctacctaact
     7381 ttgaagccca tgacttttta aacatgattt tgcaaagcat agatcttagc ttttagaaac
     7441 agatctgagc tatatgctgc ttaacagata tgtgacatgg gcaaattatg taatattttg
     7501 aactttgatc ttcatctgta aagtggtgat aataaaacct ttcttgcagt gtttttttaa
     7561 gatgagaaat aattgatata aagtccctga aaaggagtag gcatttgata aatgtgtctt
     7621 tctttaccct gaaaaatact cagtgtgcac tatgttaggt tatttctttt taaccttaac
     7681 ttattagata ttttcaatag ttattttctc ctttcagcat cagcatgcgc caccaacaaa
     7741 agactgtaaa aaacaaacaa acaaaaaagt gttgaatggg acatccatac agttggaatg
     7801 cttatttcta aaatgaatag ggaaaaggtt tgctaaatga gactggggta aaggtgtatc
     7861 tctgtgaagc attatcagac tctgaagcct aatggaaata gaattatgaa ccttaaaaac
     7921 ccattataat ttccgtaagt agaagggaga gaggtttgca ttaaaagtaa ttgaggtaga
     7981 tgagtatatt acttattcct ggaataatga atagacaagt ttggcttact catatagata
     8041 atataatgtg aattgccaga agcaaagctc agagaagatg cattaggatc agattatagg
     8101 aagccttcaa tttcaagctg agtttaactc cctattttaa aaaatttaat ctgaatggct
     8161 acagaagtaa aatttctcag aatgagtgac tttgcacctg acaccactaa gataggacta
     8221 gggtaccaaa tgagtggtat aaatttttat gtcccctggg aaataaaatc attttccatg
     8281 attcccatat ttataagtat aaattcttaa gctatatttt tacctccatt taatcgtgtt
     8341 attctgtttt actactacat atagaattga aaacattaaa taaaattaac tggaatatga
     8401 agaagctaaa tgtaattctg aatgttttat tatccttcac agcctttgtg tgagtaacta
     8461 atgtattcta actggaatcc ctgctatatg ctgtaatacc tgtggaacct ttctttagca
     8521 agtagaatgc cttaaagaat taaagaaagt gtcaaaaaat taccaattta atccactgcc
     8581 tttgcctcat ctctaatatt cttaaccctt ctctactcct tttagtcatc atttgaaatt
     8641 gtgtagtacc accaatcctg tgctgaaaca atggcttttg cttgttctaa tttttcttac
     8701 cgtgaccaaa agtcaaagag aagagctgcc aaattctacc tagaatatca tgttgctata
     8761 attaaactcc actgcccata gtagataata aaaggcaaga aattgttttt tactctatgt
     8821 ttagggagtc ttgtatcatt gcaacaggtt ttcactggga ttttgcctgt tttaatctac
     8881 ttgtctgtca aagtaatgta aaaacagttt ttaacttcga cactgaaaag gaatcatctt
     8941 taaaattaaa atttaggctg atatgaa
//
LOCUS       NM_001010872            6244 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens family with sequence similarity 83 member B (FAM83B),
            mRNA.
ACCESSION   NM_001010872
VERSION     NM_001010872.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6244)
  AUTHORS   Zhang J, Wang J, Yue K, Li P, Shen W, Qiao X, Wang Y and Wu X.
  TITLE     FAM83B promotes the invasion of primary lung adenocarcinoma via
            PI3K/AKT/NF-kappaB pathway
  JOURNAL   BMC Pulm Med 23 (1), 32 (2023)
   PUBMED   36690987
  REMARK    GeneRIF: FAM83B promotes the invasion of primary lung adenocarcinoma
            via PI3K/AKT/NF-kappaB pathway. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6244)
  AUTHORS   Cirello V, Grassi ES, Pogliaghi G, Ghiandai V, Ermellino L, Muzza M,
            Gazzano G, Persani L, Colombo C and Fugazzola L.
  TITLE     FAM83B is involved in thyroid cancer cell differentiation and
            migration
  JOURNAL   Sci Rep 12 (1), 8608 (2022)
   PUBMED   35597845
  REMARK    GeneRIF: FAM83B is involved in thyroid cancer cell differentiation
            and migration. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6244)
  AUTHORS   Xiong H, Wang N, Chen H, Zhang M and Lin Q.
  TITLE     MicroRNA-199a/b-5p inhibits endometrial cancer cell metastasis and
            invasion by targeting FAM83B in the epithelial-to-mesenchymal
            transition signaling pathway
  JOURNAL   Mol Med Rep 23 (5) (2021)
   PUBMED   33649801
  REMARK    GeneRIF: MicroRNA199a/b5p inhibits endometrial cancer cell
            metastasis and invasion by targeting FAM83B in the
            epithelialtomesenchymal transition signaling pathway.
REFERENCE   4  (bases 1 to 6244)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   5  (bases 1 to 6244)
  AUTHORS   Fulcher LJ, Bozatzi P, Tachie-Menson T, Wu KZL, Cummins TD, Bufton
            JC, Pinkas DM, Dunbar K, Shrestha S, Wood NT, Weidlich S, Macartney
            TJ, Varghese J, Gourlay R, Campbell DG, Dingwell KS, Smith JC,
            Bullock AN and Sapkota GP.
  TITLE     The DUF1669 domain of FAM83 family proteins anchor casein kinase 1
            isoforms
  JOURNAL   Sci Signal 11 (531) (2018)
   PUBMED   29789297
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 6244)
  AUTHORS   Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C,
            Chasman DI, Esko T, Thorleifsson G, Albrecht E, Ang WQ, Corre T,
            Cousminer DL, Feenstra B, Franceschini N, Ganna A, Johnson AD,
            Kjellqvist S, Lunetta KL, McMahon G, Nolte IM, Paternoster L, Porcu
            E, Smith AV, Stolk L, Teumer A, Tsernikova N, Tikkanen E, Ulivi S,
            Wagner EK, Amin N, Bierut LJ, Byrne EM, Hottenga JJ, Koller DL,
            Mangino M, Pers TH, Yerges-Armstrong LM, Zhao JH, Andrulis IL,
            Anton-Culver H, Atsma F, Bandinelli S, Beckmann MW, Benitez J,
            Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H,
            Buring JE, Chang-Claude J, Chanock S, Chen J, Chenevix-Trench G,
            Collee JM, Couch FJ, Couper D, Coveillo AD, Cox A, Czene K, D'adamo
            AP, Smith GD, De Vivo I, Demerath EW, Dennis J, Devilee P,
            Dieffenbach AK, Dunning AM, Eiriksdottir G, Eriksson JG, Fasching
            PA, Ferrucci L, Flesch-Janys D, Flyger H, Foroud T, Franke L, Garcia
            ME, Garcia-Closas M, Geller F, de Geus EE, Giles GG, Gudbjartsson
            DF, Gudnason V, Guenel P, Guo S, Hall P, Hamann U, Haring R, Hartman
            CA, Heath AC, Hofman A, Hooning MJ, Hopper JL, Hu FB, Hunter DJ,
            Karasik D, Kiel DP, Knight JA, Kosma VM, Kutalik Z, Lai S,
            Lambrechts D, Lindblom A, Magi R, Magnusson PK, Mannermaa A, Martin
            NG, Masson G, McArdle PF, McArdle WL, Melbye M, Michailidou K,
            Mihailov E, Milani L, Milne RL, Nevanlinna H, Neven P, Nohr EA,
            Oldehinkel AJ, Oostra BA, Palotie A, Peacock M, Pedersen NL,
            Peterlongo P, Peto J, Pharoah PD, Postma DS, Pouta A, Pylkas K,
            Radice P, Ring S, Rivadeneira F, Robino A, Rose LM, Rudolph A,
            Salomaa V, Sanna S, Schlessinger D, Schmidt MK, Southey MC, Sovio U,
            Stampfer MJ, Stockl D, Storniolo AM, Timpson NJ, Tyrer J, Visser JA,
            Vollenweider P, Volzke H, Waeber G, Waldenberger M, Wallaschofski H,
            Wang Q, Willemsen G, Winqvist R, Wolffenbuttel BH, Wright MJ,
            Boomsma DI, Econs MJ, Khaw KT, Loos RJ, McCarthy MI, Montgomery GW,
            Rice JP, Streeten EA, Thorsteinsdottir U, van Duijn CM, Alizadeh BZ,
            Bergmann S, Boerwinkle E, Boyd HA, Crisponi L, Gasparini P, Gieger
            C, Harris TB, Ingelsson E, Jarvelin MR, Kraft P, Lawlor D, Metspalu
            A, Pennell CE, Ridker PM, Snieder H, Sorensen TI, Spector TD,
            Strachan DP, Uitterlinden AG, Wareham NJ, Widen E, Zygmunt M, Murray
            A, Easton DF, Stefansson K, Murabito JM and Ong KK.
  CONSRTM   Australian Ovarian Cancer Study; GENICA Network; kConFab; LifeLines
            Cohort Study; InterAct Consortium; Early Growth Genetics (EGG)
            Consortium
  TITLE     Parent-of-origin-specific allelic associations among 106 genomic
            loci for age at menarche
  JOURNAL   Nature 514 (7520), 92-97 (2014)
   PUBMED   25231870
REFERENCE   7  (bases 1 to 6244)
  AUTHORS   Cipriano R, Bryson BL, Miskimen KL, Bartel CA, Hernandez-Sanchez W,
            Bruntz RC, Scott SA, Lindsley CW, Brown HA and Jackson MW.
  TITLE     Hyperactivation of EGFR and downstream effector phospholipase D1 by
            oncogenic FAM83B
  JOURNAL   Oncogene 33 (25), 3298-3306 (2014)
   PUBMED   23912460
  REMARK    GeneRIF: Suppression of PLD1 activity prevents FAM83B-mediated
            transformation.
REFERENCE   8  (bases 1 to 6244)
  AUTHORS   Cipriano R, Miskimen KL, Bryson BL, Foy CR, Bartel CA and Jackson
            MW.
  TITLE     FAM83B-mediated activation of PI3K/AKT and MAPK signaling cooperates
            to promote epithelial cell transformation and resistance to targeted
            therapies
  JOURNAL   Oncotarget 4 (5), 729-738 (2013)
   PUBMED   23676467
  REMARK    GeneRIF: ablation of FAM83B decreased p110alpha and AKT membrane
            localization, suppressed AKT phosphorylation, and diminished
            proliferation, AIG, and tumorigenicity in vivo.
REFERENCE   9  (bases 1 to 6244)
  AUTHORS   Varjosalo M, Sacco R, Stukalov A, van Drogen A, Planyavsky M, Hauri
            S, Aebersold R, Bennett KL, Colinge J, Gstaiger M and Superti-Furga
            G.
  TITLE     Interlaboratory reproducibility of large-scale human protein-complex
            analysis by standardized AP-MS
  JOURNAL   Nat Methods 10 (4), 307-314 (2013)
   PUBMED   23455922
REFERENCE   10  (bases 1 to 6244)
  AUTHORS   Cipriano R, Graham J, Miskimen KL, Bryson BL, Bruntz RC, Scott SA,
            Brown HA, Stark GR and Jackson MW.
  TITLE     FAM83B mediates EGFR- and RAS-driven oncogenic transformation
  JOURNAL   J Clin Invest 122 (9), 3197-3210 (2012)
   PUBMED   22886302
  REMARK    GeneRIF: FAM83B expression was significantly elevated in cancer and
            was associated with specific cancer subtypes, increased tumor grade,
            and decreased overall survival.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK055204.1, DRR138516.426114.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000306858.8/ ENSP00000304078.7
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK055204.1, BC101628.1, AL049555.6 and AK024927.1.
            On Nov 23, 2018 this sequence version replaced NM_001010872.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6244
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.1"
     gene            1..6244
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="family with sequence similarity 83 member B"
                     /db_xref="GeneID:222584"
                     /db_xref="HGNC:HGNC:21357"
     misc_feature    87..89
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="upstream in-frame stop codon"
     CDS             117..3152
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /codon_start=1
                     /product="protein FAM83B"
                     /protein_id="NP_001010872.1"
                     /db_xref="CCDS:CCDS34479.1"
                     /db_xref="GeneID:222584"
                     /db_xref="HGNC:HGNC:21357"
                     /translation="METSSMLSSLNDECKSDNYIEPHYKEWYRVAIDILIEHGLEAYQE
                     FLVQERVSDFLAEEEINYILKNVQKVAQSTAHGTDDSCDDTLSSGTYWPVESDVEAPNL
                     DLGWPYVMPGLLGGTHIDLLFHPPRAHLLTIKETIRKMIKEARKVIALVMDIFTDVDIF
                     KEIVEASTRGVSVYILLDESNFNHFLNMTEKQGCSVQRLRNIRVRTVKGQDYLSKTGAK
                     FHGKMEQKFLLVDCQKVMYGSYSYMWSFEKAHLSMVQIITGQLVESFDEEFRTLYARSC
                     VPSSFAQEESARVKHGKALWENGTYQHSVSSLASVSSQRNLFGRQDKIHKLDSSYFKNR
                     GIYTLNEHDKYNIRSHGYKPHFVPNFNGPNAIRQFQPNQINENWKRHSYAGEQPETVPY
                     LLLNRALNRTNNPPGNWKKPSDSLSVASSSREGYVSHHNTPAQSFANRLAQRKTTNLAD
                     RNSNVRRSFNGTDNHIRFLQQRMPTLEHTTKSFLRNWRIESYLNDHSEATPDSNGSALG
                     DRFEGYDNPENLKANALYTHSRLRSSLVFKPTLPEQKEVNSCTTGSSNSTIIGSQGSET
                     PKEVPDTPTNVQHLTDKPLPESIPKLPLQSEAPKMHTLQVPENHSVALNQTTNGHTESN
                     NYIYKTLGVNKQTENLKNQQTENLLKRRSFPLFDNSKANLDPGNSKHYVYSTLTRNRVR
                     QPEKPKEDLLKSSKSMHNVTHNLEEDEEEVTKRNSPSGTTTKSVSIAALLDVNKEESNK
                     ELASKKEVKGSPSFLKKGSQKLRSLLSLTPDKKENLSKNKAPAFYRLCSSSDTLVSEGE
                     ENQKPKKSDTKVDSSPRRKHSSSSNSQGSIHKSKEDVTVSPSQEINAPPDENKRTPSPG
                     PVESKFLERAGDASAPRFNTEQIQYRDSREINAVVTPERRPTSSPRPTSSELLRSHSTD
                     RRVYSRFEPFCKIESSIQPTSNMPNTSINRPEIKSATMGNSYGRSSPLLNYNTGVYRSY
                     QPNENKFRGFMQKFGNFIHKNK"
     misc_feature    117..968
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T0W9.1);
                     Region: Required for interaction with RAF1 and for the
                     function. /evidence=ECO:0000269|PubMed:22886302"
     misc_feature    1116..1118
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T0W9.1); phosphorylation site"
     misc_feature    1380..1382
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5T0W9.1); phosphorylation site"
     misc_feature    1386..1388
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5T0W9.1); phosphorylation site"
     misc_feature    1512..1514
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5T0W9.1);
                     phosphorylation site"
     misc_feature    1743..1745
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T0W9.1); phosphorylation site"
     misc_feature    1779..1871
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T0W9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2106..2108
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T0W9.1); phosphorylation site"
     misc_feature    2187..2330
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T0W9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2364..2423
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T0W9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2460..2462
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q5T0W9.1);
                     phosphorylation site"
     misc_feature    2520..2522
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T0W9.1); phosphorylation site"
     misc_feature    2535..2900
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T0W9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2670..2672
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5T0W9.1); phosphorylation site"
     misc_feature    2721..2723
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T0W9.1); phosphorylation site"
     misc_feature    2859..2861
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T0W9.1); phosphorylation site"
     regulatory      6223..6228
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="hexamer: AATAAT"
     polyA_site      6244
                     /gene="FAM83B"
                     /gene_synonym="C6orf143"
                     /note="major polyA site"
ORIGIN
        1 aaaccttcgg cggccggcgc tgtgcggcgg gcgcggttgc gcgcggcttg gggcaaatac
       61 ttctcaccac tgcatgaatg gacatttgaa agtgccatag ccaaacactt gcaagcatgg
      121 agacctcatc aatgctttcc tcattgaatg atgagtgtaa atctgacaac tacattgagc
      181 ctcactacaa ggaatggtat cgagtagcca ttgatattct gattgaacac gggttagaag
      241 cataccaaga atttcttgtc caggaacgag tttcagactt tcttgctgag gaagaaatta
      301 attatatttt gaaaaatgtc cagaaagttg cacaaagcac agcacatggt actgatgatt
      361 cctgtgatga taccttatct tcagggacct actggcctgt tgagtctgat gtggaagctc
      421 caaatcttga cttaggctgg ccatatgtga tgcccggact cttagggggc acccatatag
      481 atctcctttt tcatccacca agagcacatc tacttacgat aaaagaaact attcggaaga
      541 tgataaaaga agcaagaaag gtcattgctt tagtgatgga tatatttaca gatgtggaca
      601 ttttcaaaga aatcgttgag gcatcaactc gaggagtatc tgtttacatt ctgcttgatg
      661 agtccaattt taatcatttt ctaaatatga ctgagaaaca aggttgttca gttcagcgtc
      721 tcaggaatat tcgagtgcga acagtaaaag gccaagatta tctttcaaaa acaggggcaa
      781 aattccatgg aaaaatggaa cagaaatttt tgttagttga ctgccagaaa gtgatgtacg
      841 gttcttacag ttatatgtgg tcatttgaga aagctcacct cagcatggtt cagataatta
      901 caggacaact tgttgagtcc tttgatgaag aatttagaac tctctatgcc agatcctgtg
      961 tccctagttc atttgctcag gaagaatcag caagggtgaa gcatggaaaa gccctctggg
     1021 aaaatggcac ttaccagcat tcggtgtctt cattagcatc tgtttccagc cagagaaacc
     1081 tttttggtag acaagacaag attcataaac tagattccag ttacttcaaa aacagaggga
     1141 tatatacttt aaatgaacat gacaaatata acataagaag tcacggatac aaacctcatt
     1201 ttgttcctaa ctttaatggt ccaaacgcaa tacgtcagtt tcaacccaat cagataaatg
     1261 aaaattggaa aaggcatagt tatgctgggg aacagccaga aacagtgcca tacctcctgc
     1321 ttaatagggc tctgaataga accaataatc cacctggtaa ttggaaaaag ccatctgata
     1381 gtctcagtgt ggcgtcctca tcacgggaag gctatgtaag ccaccacaac acacctgccc
     1441 agagttttgc caatcggctt gcgcagagaa aaacaacaaa tcttgcagac aggaattcaa
     1501 atgttcggag gtcttttaat gggacagata accatatccg ctttttgcaa caacgaatgc
     1561 caacccttga acataccaca aagtcattcc tacgtaactg gagaattgaa tcctacttaa
     1621 atgatcattc agaagctaca ccggactcaa atggatcagc tttaggtgac cgatttgagg
     1681 gctatgataa tcctgagaat ttgaaggcca atgcccttta tactcattct cggcttcgtt
     1741 cctctttagt atttaaaccc actttacctg agcaaaagga agttaacagt tgtacaactg
     1801 gctcctcaaa ttcaactatc attggttctc agggaagtga gacacctaaa gaggtcccag
     1861 acacccctac gaatgtacag catttgacag acaaaccctt gccagaatca atccccaagc
     1921 tcccattgca gtcagaggca ccaaaaatgc acaccttgca ggttcctgaa aaccactcag
     1981 tagccttaaa ccaaactaca aatggccata ctgaatcaaa taactatata tataaaacct
     2041 tgggtgtaaa taagcagaca gaaaatctaa agaatcaaca gactgagaat ctacttaaaa
     2101 ggcgaagttt cccgttattt gacaactcaa aagccaactt agatcctgga aatagtaagc
     2161 attatgtata tagtacactt accaggaatc gagttagaca accagaaaag cccaaagaag
     2221 atttgctgaa aagttctaaa agcatgcaca atgtgactca taacttggag gaggatgagg
     2281 aggaagttac caagagaaac tctccaagtg gcactactac caaatcagtt tccattgctg
     2341 ctttacttga tgtgaataaa gaggaatcta acaaagaact tgcttcaaag aaggaagtta
     2401 agggttcccc aagttttttg aaaaaggggt ctcagaagtt aaggtcatta cttagcctta
     2461 ccccagataa gaaagaaaat ctatccaaaa ataaagcacc tgccttttat agattgtgta
     2521 gtagctctga cacattagtt tctgagggtg aagaaaatca aaaaccaaag aaatcagaca
     2581 caaaagttga ttcatctcct agaagaaagc attcttcctc atcgaattct caaggcagca
     2641 tccacaagag taaggaagat gtaacagtta gcccatctca agagataaat gctccaccag
     2701 atgaaaataa aagaacacct tctccaggtc cagttgaaag caagttcttg gaaagggcag
     2761 gagatgcctc tgccccaaga tttaacactg aacagatcca ataccgagat tcaagggaga
     2821 ttaatgcagt tgttacccct gaaagaagac ctacttcttc tccaaggcca acgtccagtg
     2881 agcttctacg atctcattca actgatcggc gtgtttacag tcgttttgag ccgttttgta
     2941 agattgagag ctctattcag ccaacaagca acatgccaaa taccagtata aatcgcccag
     3001 aaataaaatc tgcgactatg ggcaacagtt atggcaggtc tagtccattg cttaattaca
     3061 acactggtgt ttatcgctca tatcaaccca atgagaacaa gtttcgagga tttatgcaaa
     3121 agtttggaaa ctttatacac aaaaataaat agctattaaa atgcaaaatg aatgaggcta
     3181 tcaatatttg tccaaagaaa attgtggaca gtctttgtaa catgccaata gattttccta
     3241 aggacagaat tatgggtatg atgtatatgt tcaccagtgt cctagtataa agttattttt
     3301 ctgtgtgata aagttagggt ctgctgtaga tagaatttct ctgtaaacac attatttgta
     3361 agtggtaatg gtaaaaataa tagatgtatt taaatcattt tctttagact gaagatttta
     3421 agtctcactt agaaattttt gtggacgatg tatggtgtat ggtgtatggt gtatggattt
     3481 taaccatttc cttttaaaaa ggtcatacta ccctcagtaa ccctttataa catgtgttta
     3541 tagtgttttc atatcttcaa aaatataagc aaatgggaca aagccctttt ttaagattaa
     3601 cttgaagttc tacgggataa cttgttatat tttattaata ttattttttc tgtggatcat
     3661 tgtacagctg tttgggcaac agcagtacct tttacatttt ttatttttta tttttttttc
     3721 tgcctgaagt gtttgcaaag tatcagcctc atgtagtata atgacattcg taggaattta
     3781 ttttcctcag cctttgaaaa cggtctggga tgtgcttctt tctacactgg acccagggag
     3841 ctgtccccct cttacccata ggctgctgat tttttatagt cattccttac ttcacattta
     3901 ggacaaacca gtaggaattt agaaaatctg aatgattccc cctccttttt ctattgtata
     3961 aaagctttta gaaatgtaaa tttctgccta aatttttgtt agattggcat gacaatgcta
     4021 aggggtcttg cttgcgaaaa ttcttgctct tttttttttt cttttgagat ggagtctcgc
     4081 tctgtcaccc aggctagagt gcagtggcgc aatcttggct cactgcaacc tctgcctccc
     4141 aagttcaaac gattctcctg cctcagcctc ctgagtagct gggattacag gtgcgcacca
     4201 ccacacccgg ctaatttttg tattttcaga agagatggga tttcaccatg ttggccagtc
     4261 tagtctcaaa ctcctgacct cgtgatcctc ccgcctcggc ctcccagagt gctgggatta
     4321 caggtcttgc tcttctttaa gttgtgccaa atatgatatg actgcatagt gtttttgtaa
     4381 gaataccatt gggaaaatga gaagttttac tgggctagtt cttccatgat ttgaggatga
     4441 tattcagatt ataagatacc ctttgtcttt cttacagtaa tgaagtataa gctccatatc
     4501 tgttccagag actttaactt gactttgctt cattcacaaa gaacagagtt caagaagcag
     4561 tgcatcctgt gagaagtgtg aagtgtttgt acatcacttt aaatatatta cttaatatat
     4621 tctaagttgc tgtgtggagc agtatactgt tgttttaaaa atgcaagatt cagacaaatt
     4681 ttaatattgt ctcattaaaa taatttaaat aatggtataa aatatctata tcattaaaat
     4741 aattttccat agtgtttaga aaccatgaaa aagaaaacat agcaggagaa aatatgacag
     4801 gaaaagaaaa cctaacaaag cccagaaccc acagttaacc aaactagact gactttgtta
     4861 ttacccattc tttgttagta ttggataggg aattaggata atgagccatt aggcagttct
     4921 gaaatggaaa gccctgaaat ttagtgcaat gtaactttaa aactgaaatt atataaagag
     4981 tagaagttta atcatgttta attacaacca aaagcctgtt gcctttttgt acagaaatct
     5041 ccttaatttc aggacatgta gatagcttat agaaacatcc ttttaaatag tttgtgagct
     5101 cttcctcttc agtggaattg aggaatacag aatgctttat ttcatcatcc cctgacaggt
     5161 gacttaggct ttgcacagca gatttatttt tctctgcgtt ttttaaaaat tgtttttctt
     5221 gtatcttttt tcttcaaaaa tatctatatt tgagaatatg tacataacaa ctttccaaag
     5281 tctctgtggc caaaacctct ccagggataa gactgagcaa gaatataata cttcaaaaaa
     5341 tgtacagcta ctgtttaagt tttaaacaga caccatcaca gtttgtggat gaaatagttt
     5401 taagccatat actttctgtc tttttttccc catattaata ttggggggcg gataatatca
     5461 ctttgatgta cattgatatt aaagtttggt aatgcagctt ttactgtcta catggtactg
     5521 tacattagtt tttaagcaga aacacaagaa aaatgggtat aatttcaaag tagttcttgg
     5581 cagatggcta gagaatactg caagtgaccc tgtatcccga atacacagat atccctctat
     5641 tacaagtttg ggattagcca taattctgac atggtgtgtt caggtatggg tatatgttgt
     5701 cagtctacac ttgtggaagc aaatatcttg tttaatcaag atgatgtcta gtgtcaccta
     5761 aataatgcaa aaagtttaat tctggatgaa ttcagcttta ctcaagatcc acatattcaa
     5821 gtatcattcc acagatattc acagaacaca gaaatatctg tgttctgcct tatgcctgtg
     5881 gctaagggat gcaaagtaga attgctttac attgactata tatgtgacat gtacgttgct
     5941 gtttttttta aaataacttt atcatgatat tcaggtagat cctgggttct agaatattta
     6001 aaacaaaagg ataaaatgat aaaccaaaga gtcaacttgt taacttttct tttttaagag
     6061 atgggttttc actagtatgc ccagtctgga ctccaagtcc tgggctcaaa cgatcctcca
     6121 gcctcaggtt cctgagtagc tcaacatttt atgtatgtac gatattataa agaaatattc
     6181 ttccaaatga acttttgttt ttagatcaat aaatgaataa taaataattt tgtacaaaca
     6241 tcaa
//
LOCUS       NM_001010873            1045 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens translocator protein 2 (TSPO2), transcript variant 1,
            mRNA.
ACCESSION   NM_001010873
VERSION     NM_001010873.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1045)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1045)
  AUTHORS   Manceau H, Lefevre SD, Mirmiran A, Hattab C, Sugier HR, Schmitt C,
            Peoc'h K, Puy H, Ostuni MA, Gouya L and Lacapere JJ.
  TITLE     TSPO2 translocates 5-aminolevulinic acid into human erythroleukemia
            cells
  JOURNAL   Biol Cell 112 (4), 113-126 (2020)
   PUBMED   31989647
REFERENCE   3  (bases 1 to 1045)
  AUTHORS   Marginedas-Freixa I, Hattab C, Bouyer G, Halle F, Chene A, Lefevre
            SD, Cambot M, Cueff A, Schmitt M, Gamain B, Lacapere JJ, Egee S,
            Bihel F, Le Van Kim C and Ostuni MA.
  TITLE     TSPO ligands stimulate ZnPPIX transport and ROS accumulation leading
            to the inhibition of P. falciparum growth in human blood
  JOURNAL   Sci Rep 6, 33516 (2016)
   PUBMED   27641616
  REMARK    GeneRIF: TSPO ligands can induce Plasmodium falciparum death by
            increasing the uptake of porphyrins through a TSPO2-VDAC complex,
            which leads to an accumulation of reactive oxygen species.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1045)
  AUTHORS   Hosgood HD 3rd, Menashe I, He X, Chanock S and Lan Q.
  TITLE     PTEN identified as important risk factor of chronic obstructive
            pulmonary disease
  JOURNAL   Respir Med 103 (12), 1866-1870 (2009)
   PUBMED   19625176
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 1045)
  AUTHORS   Fan J, Rone MB and Papadopoulos V.
  TITLE     Translocator protein 2 is involved in cholesterol redistribution
            during erythropoiesis
  JOURNAL   J Biol Chem 284 (44), 30484-30497 (2009)
   PUBMED   19729679
  REMARK    GeneRIF: identify the TSPO2 family of proteins as mediators of
            cholesterol redistribution-dependent erythroblast maturation during
            mammalian erythropoiesis
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BU655765.1, BC137560.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2149004,
            SAMEA2154529 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000373161.6/ ENSP00000362255.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL031778.1, BU655765.1, BU657409.1, BC137565.1 and AI052224.1.
            On Nov 23, 2018 this sequence version replaced NM_001010873.2.
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1045
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..1045
                     /gene="TSPO2"
                     /gene_synonym="BZRPL1"
                     /note="translocator protein 2"
                     /db_xref="GeneID:222642"
                     /db_xref="HGNC:HGNC:21256"
                     /db_xref="MIM:619409"
     misc_feature    304..687
                     /gene="TSPO2"
                     /gene_synonym="BZRPL1"
                     /note="A 127 aa uORF with a strong Kozak signal is present
                     in this transcript, and may strongly inhibit translation of
                     the annotated protein."
     misc_feature    330..332
                     /gene="TSPO2"
                     /gene_synonym="BZRPL1"
                     /note="upstream in-frame stop codon"
     CDS             333..845
                     /gene="TSPO2"
                     /gene_synonym="BZRPL1"
                     /note="benzodiazapine receptor (peripheral)-like 1;
                     peripheral-type benzodiazepine receptor-like protein 1"
                     /codon_start=1
                     /product="translocator protein 2"
                     /protein_id="NP_001010873.1"
                     /db_xref="CCDS:CCDS34444.1"
                     /db_xref="GeneID:222642"
                     /db_xref="HGNC:HGNC:21256"
                     /db_xref="MIM:619409"
                     /translation="MRLQGAIFVLLPHLGPILVWLFTRDHMSGWCEGPRMLSWCPFYKV
                     LLLVQTAIYSVVGYASYLVWKDLGGGLGWPLALPLGLYAVQLTISWTVLVLFFTVHNPG
                     LALLHLLLLYGLVVSTALIWHPINKLAALLLLPYLAWLTVTSALTYHLWRDSLCPVHQP
                     QPTEKSD"
     misc_feature    339..401
                     /gene="TSPO2"
                     /gene_synonym="BZRPL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TGU0.1);
                     transmembrane region"
     misc_feature    465..527
                     /gene="TSPO2"
                     /gene_synonym="BZRPL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TGU0.1);
                     transmembrane region"
     misc_feature    564..626
                     /gene="TSPO2"
                     /gene_synonym="BZRPL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TGU0.1);
                     transmembrane region"
     misc_feature    642..704
                     /gene="TSPO2"
                     /gene_synonym="BZRPL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TGU0.1);
                     transmembrane region"
     misc_feature    720..782
                     /gene="TSPO2"
                     /gene_synonym="BZRPL1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TGU0.1);
                     transmembrane region"
     regulatory      1020..1025
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSPO2"
                     /gene_synonym="BZRPL1"
                     /note="hexamer: AATAAA"
     polyA_site      1045
                     /gene="TSPO2"
                     /gene_synonym="BZRPL1"
                     /note="major polyA site"
ORIGIN
        1 agatgtgctg ccgcattcgt gactagaaaa gagtccccag gaatttctgg ctcctgcctt
       61 cagattgtga actttccagg ttggtagatc agcttaggta gaacagttct cggtgagggc
      121 cagctacata cctggctaag cgctgcccac tgcagaaaag ctcatcaccc gggacctgat
      181 ctccaggact cagaagcact tggaggaagg cctattcact tagaagcagt taccagtgct
      241 gggcagtgtc ctccaagtgc cagaggagtg ctgtggagaa aagaagtcca tggaagccag
      301 gagatgggca agattttgcc tcttcaaggt gaatgcggct tcaaggggct atctttgtgc
      361 tcctgcccca cctggggccc atcctggtct ggctgttcac tcgtgatcac atgtctggtt
      421 ggtgtgaggg cccgaggatg ctgtcctggt gcccattcta caaagtctta ttgcttgtac
      481 agacagccat ctactctgtc gtgggctatg cctcctacct ggtgtggaag gacctgggag
      541 ggggcttggg gtggcccctg gccctgcctc ttggcctcta tgctgttcag ctcaccatca
      601 gctggactgt cctggttctc tttttcacag tccacaaccc tggtctggcc ctgctgcacc
      661 tgctgctgct gtatgggctg gtggtgagca cagcactgat ctggcatccc atcaacaaac
      721 tggctgccct gttactgctg ccctacctag cctggctcac cgtgacttca gccctcacct
      781 accacctgtg gagggacagc ctttgtccag tgcaccagcc tcagcccacg gagaagagtg
      841 actgaggccc tagggcatgg gagaggaggg acgcccaggg tggggaggaa gagtctgcaa
      901 gcagggctgt ggagttaggg ttcaccccaa tgggaccacc ctcctgggtc ccctggtgcc
      961 gtttttcctt agaaatcaga gaaatgggaa agggggggaa actgatttta cacttaaata
     1021 ataaaatcct attagtaact ctgaa
//
LOCUS       NM_001010874            3561 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens trans-2,3-enoyl-CoA reductase like (TECRL), transcript
            variant 1, mRNA.
ACCESSION   NM_001010874
VERSION     NM_001010874.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3561)
  AUTHORS   Hou C, Jiang X, Zhang H, Zheng J, Qiu Q, Zhang Y, Sun X, Xu M, Chang
            ACY, Xie L and Xiao T.
  TITLE     TECRL deficiency results in aberrant mitochondrial function in
            cardiomyocytes
  JOURNAL   Commun Biol 5 (1), 470 (2022)
   PUBMED   35577932
  REMARK    GeneRIF: TECRL deficiency results in aberrant mitochondrial function
            in cardiomyocytes. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3561)
  AUTHORS   Moscu-Gregor A, Marschall C, Muntjes C, Schonecker A,
            Schuessler-Hahn F, Hohendanner F, Parwani AS, Boldt LH, Ott CE,
            Bennewiz A, Paul T, Krause U and Rost I.
  TITLE     Novel variants in TECRL cause recessive inherited CPVT type 3 with
            severe and variable clinical symptoms
  JOURNAL   J Cardiovasc Electrophysiol 31 (6), 1527-1535 (2020)
   PUBMED   32173957
  REMARK    GeneRIF: Novel variants in TECRL cause recessive inherited CPVT type
            3 with severe and variable clinical symptoms.
REFERENCE   3  (bases 1 to 3561)
  AUTHORS   Xie L, Hou C, Jiang X, Zhao J, Li Y and Xiao T.
  TITLE     A compound heterozygosity of Tecrl gene confirmed in a
            catecholaminergic polymorphic ventricular tachycardia family
  JOURNAL   Eur J Med Genet 62 (7), 103631 (2019)
   PUBMED   30790670
  REMARK    GeneRIF: A compound heterozygosity in the Tecrl gene (Arg196Gln and
            c.918+3T > G splice site mutation) was identified in a patient with
            catecholaminergic polymorphic ventricular tachycardia.
REFERENCE   4  (bases 1 to 3561)
  AUTHORS   Devalla HD, Gelinas R, Aburawi EH, Beqqali A, Goyette P, Freund C,
            Chaix MA, Tadros R, Jiang H, Le Bechec A, Monshouwer-Kloots JJ,
            Zwetsloot T, Kosmidis G, Latour F, Alikashani A, Hoekstra M,
            Schlaepfer J, Mummery CL, Stevenson B, Kutalik Z, de Vries AA,
            Rivard L, Wilde AA, Talajic M, Verkerk AO, Al-Gazali L, Rioux JD,
            Bhuiyan ZA and Passier R.
  TITLE     TECRL, a new life-threatening inherited arrhythmia gene associated
            with overlapping clinical features of both LQTS and CPVT
  JOURNAL   EMBO Mol Med 8 (12), 1390-1408 (2016)
   PUBMED   27861123
  REMARK    GeneRIF: In summary, the authors report that mutations in TECRL are
            associated with inherited arrhythmias characterized by clinical
            features of both long QT syndrome and catecholaminergic polymorphic
            ventricular tachycardia. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3561)
  AUTHORS   Xie P, Kranzler HR, Yang C, Zhao H, Farrer LA and Gelernter J.
  TITLE     Genome-wide association study identifies new susceptibility loci for
            posttraumatic stress disorder
  JOURNAL   Biol Psychiatry 74 (9), 656-663 (2013)
   PUBMED   23726511
REFERENCE   6  (bases 1 to 3561)
  AUTHORS   Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V,
            MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG,
            Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ,
            Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E,
            Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell CE,
            van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R, Tay
            WT, Zheng Y, Chew M, Burdon KP, Craig JE, Iyengar SK, Igo RP Jr,
            Lass JH Jr, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J,
            Simpson CL, Wojciechowski R, Hohn R, Mirshahi A, Zeller T, Pfeiffer
            N, Lackner KJ, Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas
            L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini
            SM, Paterson AD, Makela KM, Lehtimaki T, Kahonen M, Raitakari O,
            Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MK, Meguro A,
            Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai ES, Fan Q, Xu
            L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A, Uitterlinden AG,
            Bencic G, Khor CC, Forward H, Parssinen O, Mitchell P, Rivadeneira
            F, Hewitt AW, Williams C, Oostra BA, Teo YY, Hammond CJ, Stambolian
            D, Mackey DA, Klaver CC, Wong TY, Saw SM and Baird PN.
  CONSRTM   Consortium for Refractive Error and Myopia; Fuchs' Genetics
            Multi-Center Study Group; Wellcome Trust Case Control Consortium 2;
            Diabetes Control and Complications Trial/Epidemiology of Diabetes
            Interventions, and Complications Research Group
  TITLE     Nine loci for ocular axial length identified through genome-wide
            association studies, including shared loci with refractive error
  JOURNAL   Am J Hum Genet 93 (2), 264-277 (2013)
   PUBMED   24144296
REFERENCE   7  (bases 1 to 3561)
  AUTHORS   Lee YC, Kuo HC, Chang JS, Chang LY, Huang LM, Chen MR, Liang CD, Chi
            H, Huang FY, Lee ML, Huang YC, Hwang B, Chiu NC, Hwang KP, Lee PC,
            Chang LC, Liu YM, Chen YJ, Chen CH, Chen YT, Tsai FJ and Wu JY.
  CONSRTM   Taiwan Pediatric ID Alliance
  TITLE     Two new susceptibility loci for Kawasaki disease identified through
            genome-wide association analysis
  JOURNAL   Nat Genet 44 (5), 522-525 (2012)
   PUBMED   22446961
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3561)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction Assessment
            with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   9  (bases 1 to 3561)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10  (bases 1 to 3561)
  AUTHORS   Napolitano,C., Mazzanti,A., Bloise,R. and Priori,S.G.
  TITLE     Catecholaminergic Polymorphic Ventricular Tachycardia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301466
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AL833108.1, BX647590.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968832
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381210.8/ ENSP00000370607.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL833108.1, AC023156.5 and
            BX647590.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001010874.4.
            Summary: The protein encoded by this gene contains a ubiquitin-like
            domain in the N-terminal region, three transmembrane segments and a
            C-terminal 3-oxo-5-alpha steroid 4-dehydrogenase domain. The
            protein belongs to the steroid 5-alpha reductase family. Mutations
            in this gene result in ventricular tachycardia, catecholaminergic
            polymorphic, 3. [provided by RefSeq, Apr 2017].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3561
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.1"
     gene            1..3561
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /note="trans-2,3-enoyl-CoA reductase like"
                     /db_xref="GeneID:253017"
                     /db_xref="HGNC:HGNC:27365"
                     /db_xref="MIM:617242"
     misc_feature    73..75
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /note="upstream in-frame stop codon"
     CDS             100..1191
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glycoprotein, synaptic 2-like; steroid 5 alpha-reductase
                     2-like 2; steroid 5-alpha-reductase 2-like 2 protein"
                     /codon_start=1
                     /product="trans-2,3-enoyl-CoA reductase-like isoform 1"
                     /protein_id="NP_001010874.2"
                     /db_xref="CCDS:CCDS33990.1"
                     /db_xref="GeneID:253017"
                     /db_xref="HGNC:HGNC:27365"
                     /db_xref="MIM:617242"
                     /translation="MFKRHKSLASERKRALLSQRATRFILKDDMRNFHFLSKLVLSAGP
                     LRPTPAVKHSKTTHFEIEIFDAQTRKQICILDKVTQSSTIHDVKQKFHKACPKWYPSRV
                     GLQLECGGPFLKDYITIQSIAASSIVTLYATDLGQQVSWTTVFLAEYTGPLLIYLLFYL
                     RIPCIYDGKESARRLRHPVVHLACFCHCIHYIRYLLETLFVHKVSAGHTPLKNLIMSCA
                     FYWGFTSWIAYYINHPLYTPPSFGNRQITVSAINFLICEAGNHFINVMLSHPNHTGNNA
                     CFPSPNYNPFTWMFFLVSCPNYTYEIGSWISFTVMTQTLPVGIFTLLMSIQMSLWAQKK
                     HKIYLRKFNSYIHRKSAMIPFIL"
     misc_feature    208..210
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BFZ1; propagated from
                     UniProtKB/Swiss-Prot (Q5HYJ1.1); phosphorylation site"
     misc_feature    526..588
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYJ1.1);
                     transmembrane region"
     misc_feature    748..810
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYJ1.1);
                     transmembrane region"
     misc_feature    1030..1092
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYJ1.1);
                     transmembrane region"
     regulatory      2782..2787
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /note="hexamer: AATAAA"
     polyA_site      2804
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /note="major polyA site"
     regulatory      2965..2970
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /note="hexamer: ATTAAA"
     polyA_site      2985
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
ORIGIN
        1 acctttcaaa ggttctccag cagtatttaa ctgatgcaaa aggaacacac ttgcaatttt
       61 ctacttttga catgacagac cctcctctta gttcacacaa tgttcaaaag gcacaagtcc
      121 ctcgcttcgg aacgcaagag agcattactt tcccaaagag ctacacggtt catactgaag
      181 gatgatatga gaaattttca ctttttgtca aaacttgtac tctcagcggg ccctctaaga
      241 ccaactccag cagtcaaaca ttcaaaaacg actcactttg agattgaaat atttgatgct
      301 caaacaagga aacagatatg tattctggat aaggtgacac aatcatctac tattcatgat
      361 gttaagcaaa agtttcacaa agcatgtcca aagtggtacc cttctcgagt tggtctgcag
      421 ctagaatgtg gcgggccttt tttgaaggac tacattacca ttcaaagtat tgcagcttcc
      481 tccattgtca cactgtatgc tacagaccta ggtcaacaag tcagttggac cacagtgttt
      541 ttggctgaat acacaggacc tctgctaata tacctcctct tttatttgag gatcccatgt
      601 atatatgatg gaaaagagag tgctagaaga ttacgccacc cagtggtaca cttggcttgc
      661 ttctgtcatt gtatacacta catccgatac cttttggaaa ccttatttgt tcacaaagtt
      721 tctgcaggac acacaccttt gaaaaatttg ataatgagtt gtgcctttta ctggggattt
      781 acttcttgga ttgcctacta cattaatcat ccactatata caccaccatc atttggaaac
      841 aggcaaatca cagtatctgc tatcaatttt ctgatttgtg aagctgggaa tcatttcatc
      901 aatgtaatgt tgtctcatcc caatcacaca ggaaacaatg cctgtttccc aagtccaaat
      961 tataacccct tcacatggat gtttttcctg gtttcatgtc ctaactacac ctatgagatt
     1021 ggatcatgga ttagtttcac agtcatgaca caaacactgc cagttggaat ttttacactt
     1081 ctgatgagta tccagatgtc tttgtgggca caaaagaaac ataagattta tctgagaaaa
     1141 ttcaattcat atattcatag aaaatcagca atgattccat tcatattgta aaaaaagaat
     1201 cttatctcct atagaaaaca gcaacatata aattcaataa ataagactta gttaaggata
     1261 gttaactatt atactccaac aattcatgag caacagtata tacactgagt aaaaatataa
     1321 aatagtaaaa tttcactaaa tttagagaaa tgcacatggt aataaaaagt ataaattata
     1381 aatgcaatta actaagaaca gctctgaatg tatttgcatg ggattggtcc ttgaataaaa
     1441 ttgtcttact tcattaatac ttcacaatac tatttgcata agacaaaata ccacagcaaa
     1501 aaaaaaaatc tgattaacaa atgaaaaagc gatctgaaca gacatttccc aaaggaagac
     1561 atatacatgg tcaataagta tatttttaaa atgctcaaca ttaactattc atacagaaat
     1621 gcaaatcaaa accacaatga gatatcatct catcctaatt aaggtgacta ttttcaaaaa
     1681 gacaaaaaat atgacagccg tggtggttca tatctgtaat cctaacactt tgacaggcca
     1741 aggcagggga attgcttgag ttcagaagtt tgagatctgg gcaacatatt gagactctgt
     1801 ctctaaaaag catattgaga ctctgtctct acaaaaaaat tttaaaaagt aaaaattagc
     1861 tgggcgtggt ggcacatgcc agtaggtagt cccagctact cgaggttgct ccagctcagg
     1921 cgttcaaggc tacagagagc catgattaaa ccaaggcact ccagcctggg tgacagagtg
     1981 agactgtctc aaaataaaat aaaaataaca tattggtgaa gatgcgggaa aaaaaaaaga
     2041 actcttagac actgctggtg ggaatgtaaa ctagagcagc catgtggaga acaacatgga
     2101 ctttcttcaa aaattacaaa tagaactatc atatgatcca gcaataccat tactggaaaa
     2161 aggaaatctg tatattaaag agacatttga accctatgtt tactgcagca ctattcacaa
     2221 tagccaagat ataggagcaa cctaggtgtc caacaacaga tgaatggata aagaaaatgt
     2281 ggtatatata cacaatagaa tactatgcag ccataaaaac tgaattcctg tcattcagga
     2341 caacatggat ggaattggag ggcatatgtt aagtgaaaca agccaggaac agaaagttaa
     2401 acattgcatg ttattactta tatgtggaag ctaaaaaaat tgatatcata gaagtaaaaa
     2461 ataaaacaga ggatactaca ggctgggaaa gctgcagcaa agggagacta gagagagatt
     2521 tgttaaagga tacaaagtta cagcttggta ggaggaataa tttctggtgt tctataccac
     2581 tgtaggacga ctatagttaa gaacattata ttccatttag tttcaaatag ctaaaaggag
     2641 attttgtccc caacaaaaag aaatgataaa tatttgaaac catggatact ctaatttctc
     2701 tgatctgacc actataaatt atatgtattg aaacattatt atgtatctcc caaatatgtt
     2761 caattcttat gtcgctcaaa aaataaaatt taatttaaaa agtatctgat ttttaaagta
     2821 aatatttttt aaagttttga catttaaatt acttgaatct cattattttg acaataattt
     2881 aattctttta ttgttcaatc tgttagtgag atgtgtcata ggtattatgt cattagttca
     2941 aattcttgcg gaaattatag ctatattaaa agtgtaacat ttttatttag ttgtgtactt
     3001 atttgttaat aatacagaca ttgtatgtta tcatactgaa atttacaatt aaaatatttt
     3061 ctgtagatta tttgaaaatc attctaaata tatattttga aatatataga ttatatttgt
     3121 atgtaaatta tatttataca tcttctgaaa tatatttcaa aatatgtgtg tacgtgtgta
     3181 tatgtgtata tatatacaca tatatataca catacacaaa tatatgcata tttcaaatgg
     3241 attgtatgca cttgcaaagc aaaagtacat tggtaatttg ggcacattca gagtggaaaa
     3301 aatttgttct atttttacat ctttaaatac ctatcttcta tgaaagccta tgtgcatgtg
     3361 tgtgtgtgta tgagtttcta tgtgagcatg catatatact tcacaaagag atgacctata
     3421 taaatcaaag tacacattat ttaaaatatt taaaaaaatt ttcagtttct tcatttttaa
     3481 attgtgattt ttagatttgt tagtctatgg agtattttca attctcagat tatacatatg
     3541 ttataaaata tgttcattaa a
//
LOCUS       NM_001010875            3663 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens solute carrier family 25 member 30 (SLC25A30),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001010875
VERSION     NM_001010875.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3663)
  AUTHORS   Gorgoglione R, Porcelli V, Santoro A, Daddabbo L, Vozza A, Monne M,
            Di Noia MA, Palmieri L, Fiermonte G and Palmieri F.
  TITLE     The human uncoupling proteins 5 and 6 (UCP5/SLC25A14 and
            UCP6/SLC25A30) transport sulfur oxyanions, phosphate and
            dicarboxylates
  JOURNAL   Biochim Biophys Acta Bioenerg 1860 (9), 724-733 (2019)
   PUBMED   31356773
REFERENCE   2  (bases 1 to 3663)
  AUTHORS   Shanmughapriya S, Rajan S, Hoffman NE, Higgins AM, Tomar D, Nemani
            N, Hines KJ, Smith DJ, Eguchi A, Vallem S, Shaikh F, Cheung M,
            Leonard NJ, Stolakis RS, Wolfers MP, Ibetti J, Chuprun JK, Jog NR,
            Houser SR, Koch WJ, Elrod JW and Madesh M.
  TITLE     SPG7 Is an Essential and Conserved Component of the Mitochondrial
            Permeability Transition Pore
  JOURNAL   Mol Cell 60 (1), 47-62 (2015)
   PUBMED   26387735
REFERENCE   3  (bases 1 to 3663)
  AUTHORS   Palmieri F.
  TITLE     The mitochondrial transporter family SLC25: identification,
            properties and physiopathology
  JOURNAL   Mol Aspects Med 34 (2-3), 465-484 (2013)
   PUBMED   23266187
  REMARK    GeneRIF: Compares and contrasts all the known human SLC25A* genes
            and includes functional information. Review article
REFERENCE   4  (bases 1 to 3663)
  AUTHORS   Haguenauer A, Raimbault S, Masscheleyn S, Gonzalez-Barroso Mdel M,
            Criscuolo F, Plamondon J, Miroux B, Ricquier D, Richard D, Bouillaud
            F and Pecqueur C.
  TITLE     A new renal mitochondrial carrier, KMCP1, is up-regulated during
            tubular cell regeneration and induction of antioxidant enzymes
  JOURNAL   J Biol Chem 280 (23), 22036-22043 (2005)
   PUBMED   15809292
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK094133.1, SRR1803617.183841.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000519676.6/ ENSP00000429168.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC322809.1, AK094133.1, AK095465.1 and AL627107.33.
            On Nov 22, 2018 this sequence version replaced NM_001010875.3.
            Summary: Although the outer mitochondrial membrane is permeable to
            many small metabolites, transport of solutes across the inner
            mitochondrial membrane is achieved by members of the mitochondrial
            carrier protein family, such as SLC25A30 (Haguenauer et al., 2005
            [PubMed 15809292]).[supplied by OMIM, Mar 2008].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3663
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.13"
     gene            1..3663
                     /gene="SLC25A30"
                     /gene_synonym="KMCP1"
                     /note="solute carrier family 25 member 30"
                     /db_xref="GeneID:253512"
                     /db_xref="HGNC:HGNC:27371"
                     /db_xref="MIM:610793"
     CDS             130..1005
                     /gene="SLC25A30"
                     /gene_synonym="KMCP1"
                     /note="isoform 1 is encoded by transcript variant 1; kidney
                     mitochondrial carrier protein 1; uncoupling protein 6"
                     /codon_start=1
                     /product="kidney mitochondrial carrier protein 1 isoform 1"
                     /protein_id="NP_001010875.1"
                     /db_xref="CCDS:CCDS31967.1"
                     /db_xref="GeneID:253512"
                     /db_xref="HGNC:HGNC:27371"
                     /db_xref="MIM:610793"
                     /translation="MSALNWKPFVYGGLASITAECGTFPIDLTKTRLQIQGQTNDAKFK
                     EIRYRGMLHALVRIGREEGLKALYSGIAPAMLRQASYGTIKIGTYQSLKRLFIERPEDE
                     TLPINVICGILSGVISSTIANPTDVLKIRMQAQSNTIQGGMIGNFMNIYQQEGTRGLWK
                     GVSLTAQRAAIVVGVELPVYDITKKHLILSGLMGDTVYTHFLSSFTCGLAGALASNPVD
                     VVRTRMMNQRVLRDGRCSGYTGTLDCLLQTWKNEGFFALYKGFWPNWLRLGPWNIIFFV
                     TYEQLKKLDL"
     misc_feature    133..135
                     /gene="SLC25A30"
                     /gene_synonym="KMCP1"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (Q5SVS4.1); acetylation site"
     misc_feature    148..417
                     /gene="SLC25A30"
                     /gene_synonym="KMCP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SVS4.1);
                     Region: Solcar 1"
     misc_feature    154..207
                     /gene="SLC25A30"
                     /gene_synonym="KMCP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SVS4.1);
                     transmembrane region"
     misc_feature    340..396
                     /gene="SLC25A30"
                     /gene_synonym="KMCP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SVS4.1);
                     transmembrane region"
     misc_feature    439..696
                     /gene="SLC25A30"
                     /gene_synonym="KMCP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SVS4.1);
                     Region: Solcar 2"
     misc_feature    442..501
                     /gene="SLC25A30"
                     /gene_synonym="KMCP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SVS4.1);
                     transmembrane region"
     misc_feature    619..678
                     /gene="SLC25A30"
                     /gene_synonym="KMCP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SVS4.1);
                     transmembrane region"
     misc_feature    721..996
                     /gene="SLC25A30"
                     /gene_synonym="KMCP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SVS4.1);
                     Region: Solcar 3"
     misc_feature    739..801
                     /gene="SLC25A30"
                     /gene_synonym="KMCP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SVS4.1);
                     transmembrane region"
     misc_feature    919..978
                     /gene="SLC25A30"
                     /gene_synonym="KMCP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SVS4.1);
                     transmembrane region"
     regulatory      3646..3651
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A30"
                     /gene_synonym="KMCP1"
                     /note="hexamer: AATATA"
     polyA_site      3663
                     /gene="SLC25A30"
                     /gene_synonym="KMCP1"
                     /note="major polyA site"
ORIGIN
        1 cttttctcca gcggcctcag gttcttgtta caactgagtc cgggttggag gaggtgtggg
       61 gccgctgccg ccaggaaaaa cagcactgga ggcaatgttt ctataaatca aagaagagac
      121 agtgtgagaa tgtcagccct caactggaag ccgtttgtgt acggggggct ggcctccatc
      181 actgctgagt gcggtacatt tccaattgat ttaaccaaga cacggctcca gattcaaggc
      241 cagacgaatg atgcaaaatt taaggaaatt agataccgag gaatgttgca cgcattagtg
      301 aggataggca gagaagaagg gctgaaagca ctctactcgg ggattgcccc cgcgatgtta
      361 cgccaggcat cctatggcac catcaagata ggcacttacc agagcttgaa gcgactattc
      421 attgaacgcc cagaagatga aactctaccg ataaatgtga tatgtggaat tctgtctgga
      481 gtcatatctt caaccattgc taatccaact gatgttttga aaattcggat gcaagcgcaa
      541 agcaacacca ttcaaggagg aatgataggc aacttcatga acatttacca gcaagagggg
      601 acaagaggac tgtggaaggg tgtgtccctt actgcgcaga gggctgctat tgttgttggt
      661 gtggagctgc cggtctatga catcaccaag aagcatctta ttctctcagg cctgatggga
      721 gacactgtgt atacccactt cctctcaagc ttcacctgtg gtctggcagg ggccctggcc
      781 tcaaaccctg ttgatgttgt gaggacacgt atgatgaatc agagagtgct tcgagatggc
      841 agatgttctg gctacacagg aaccctggat tgcttgttac agacatggaa gaatgaaggg
      901 ttttttgctc tctataaagg cttttggcca aattggttga gacttggtcc ttggaatatc
      961 attttctttg tgacatacga gcagttgaag aaattggatt tgtgacaagc caaggctgca
     1021 tgagacatct ttctgaaaat ggtaacttct gaaacagcaa agcttcctgt gtttcactct
     1081 gcttctcact gcttggctca tcacagattc tgggatgtga gcaacagatg aagactgggt
     1141 tagttgagat tgctgtgtgt tggcattgga tgctcttcat caaacgttta atggcataaa
     1201 ctaacatcca aacactagtc tttaccactg aagtgccctt caacatcaaa gataatatgt
     1261 gaaatgcatg tttcttgcta aagaaaactt gcaagaaaat caggagcgat gtattgtttt
     1321 attcagggag agtagctcct gatgcatctc agctcatgac tgagaatcag actgctctag
     1381 aaaagctcac tggaaccatg gaatggagcc tccgagaagg tgttatggtt tctgaatttc
     1441 tgggagattt tgctccttgt caactgaaga aatttcatgt atggagacct ggactgttca
     1501 accccaggta taaacggtgc aggaaatgga tcctaggaat atcacactgc tttatcattt
     1561 cctattttgg caggatcttc cacttataat aagtgatttt aagctttgaa gacttgacat
     1621 ttgtgagaaa ttgttacaaa gtaataatct ctaaattcgt ggtggtgtta tgtgttggct
     1681 ttgaaggttg caaggtctgt attggtgggg ggtgttttca agcagcttag gttctgtctt
     1741 aggtcatgtt agtaattagc tttatgattt ttagcaaagc atatgtattt ctcaatgagt
     1801 aaaatgggga taataacgtc tattgatgta gagggtcaaa tgaagaacaa atagtagctg
     1861 ctgctacttg actggaaagg taaatgtgtt tacatcatgc tgtggaacag ctctaaacag
     1921 tctatgtaga agaggggcat gttctcatgg gcttctcatg gtaattgtga atgaagccct
     1981 ttgttaaggt cttgttgaag aaagaacact gtataagttc aggctttagt acattttcct
     2041 tagcaaaatg ttggtagtga atcaaagagt tgatttttcc aggtttccag tttttacttt
     2101 agtttatgtt gtgcctgtct tggactttct gtttagtttg gatggaaaat acctgcttga
     2161 aattttaaaa atgatttctt tagtgcatct atttagctag tttctgatag gtggtatgta
     2221 atattttccc tttttctttc cttctgtaga cacaataagt cattctccct cttctttttt
     2281 tctttttcta ttttcttatt ctttactcta acctgcttca gagaaagagc cctcttcctt
     2341 cttgtcttca tcttagtctt ttcaaaataa aagatgactg tgagaacccc aagaacttcc
     2401 acttctggga ggcagccaca ggacagggaa catatttatt tgggtctctt cagttccccc
     2461 tttgagaaca acattaaata catgttagct ggggctccag ggcattctcc ttccacagta
     2521 gtgcggccaa attcccagtc tggccagtct ctttgttgag actgaataga aggactgcag
     2581 gtttttttgg aggatgagat aatttttcct cgcaggcatt tttcccttgc cttccttatg
     2641 catgaatggt ccctttgaat attatttcca aaagtgagag ctaagacaaa gtcatcaaaa
     2701 agagaggata acagaaggtg ggggcggggg cggggtgcag tggggtaggg ttacctgtta
     2761 attgctgaga ctcagatgaa agtccagctc tccctgggca accctagagg gcagcagagg
     2821 accccagagc tcattcaggc cttgctgctt gttctaaact acaccttagg attttttctt
     2881 ctttccaaaa cattccattg attttataaa gactttctat agagaggctt tcacttttga
     2941 gttctttgag tttaaagatt gcttttcttg aaatgctctt tttttaatgt agaaaaattt
     3001 tactttttca aatatgcata caatttttaa aacagtagaa gcaaattcat tttaatgacc
     3061 atgtaaagag cgaatgtcag acagtattat taccagttta ttcaaattac atacatgttc
     3121 ctaccaaggt ggaaagaaat tcaaacctca tggtaaaact taagcacgat ttaagataaa
     3181 agcatagtat ttcttcagtg tagacttatt aagtgcctta ttgaacagga tcttaacctg
     3241 ctttttctgt ttttttgaaa gagttaatgc aattgttgaa gcttctaacc aagaaacaac
     3301 ttaaggaatt gggagacttg gtcccctcgt tgtcagggtt ctggctataa gtacctcccc
     3361 acctttgggt tttcttaaat atgccaaaag gaattctagt ttttataacc aatgggtttt
     3421 tttgtttgtg tgcttatgga tttgtgtaat cattgatgct taatgttgtg gattcataat
     3481 ataaaaagtg gctcctgtcc tttatattta ttcatgtgct agaaatagta tgcattatat
     3541 aaagagtatg aagttttcat aagcctttat atttcaagct ctttatttaa acattgttgg
     3601 aatatgtggc ataagccttg tttcatttat ttaataaact ggagtaatat ataataataa
     3661 aaa
//
LOCUS       NM_001010876             589 bp    mRNA    linear   PRI 17-SEP-2023
DEFINITION  Homo sapiens transmembrane protein 244 (TMEM244), mRNA.
ACCESSION   NM_001010876
VERSION     NM_001010876.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 589)
  AUTHORS   Rassek K, Izykowska K, Zurawek M, Pieniawska M, Nowicka K, Zhao X
            and Przybylski GK.
  TITLE     TMEM244 Is a Long Non-Coding RNA Necessary for CTCL Cell Growth
  JOURNAL   Int J Mol Sci 24 (4), 3531 (2023)
   PUBMED   36834942
  REMARK    GeneRIF: TMEM244 Is a Long Non-Coding RNA Necessary for CTCL Cell
            Growth. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 589)
  AUTHORS   Rassek K, Izykowska K, Zurawek M, Nowicka K, Joks M, Olek-Hrab K,
            Olszewska B, Sokolowska-Wojdylo M, Biernat W, Nowicki RJ and
            Przybylski GK.
  TITLE     TMEM244 Gene Expression as a Potential Blood Diagnostic Marker
            Distinguishing Sezary Syndrome from Mycosis Fungoides and Benign
            Erythroderma
  JOURNAL   J Invest Dermatol 143 (2), 344-347 (2023)
   PUBMED   36087622
  REMARK    GeneRIF: TMEM244 Gene Expression as a Potential Blood Diagnostic
            Marker Distinguishing Sezary Syndrome from Mycosis Fungoides and
            Benign Erythroderma.
REFERENCE   3  (bases 1 to 589)
  AUTHORS   Izykowska K, Rassek K, Zurawek M, Nowicka K, Paczkowska J,
            Ziolkowska-Suchanek I, Podralska M, Dzikiewicz-Krawczyk A, Joks M,
            Olek-Hrab K, Giefing M and Przybylski GK.
  TITLE     Hypomethylation of the promoter region drives ectopic expression of
            TMEM244 in Sezary cells
  JOURNAL   J Cell Mol Med 24 (18), 10970-10977 (2020)
   PUBMED   32794659
  REMARK    GeneRIF: Hypomethylation of the promoter region drives ectopic
            expression of TMEM244 in Sezary cells.
REFERENCE   4  (bases 1 to 589)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BM931155.1, BM684606.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2155628 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368143.6/ ENSP00000357125.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL451046.8.
            On May 17, 2019 this sequence version replaced NM_001010876.1.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..589
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.33"
     gene            1..589
                     /gene="TMEM244"
                     /gene_synonym="bA174C7.4; C6orf191"
                     /note="transmembrane protein 244"
                     /db_xref="GeneID:253582"
                     /db_xref="HGNC:HGNC:21571"
     misc_feature    116..118
                     /gene="TMEM244"
                     /gene_synonym="bA174C7.4; C6orf191"
                     /note="upstream in-frame stop codon"
     CDS             128..514
                     /gene="TMEM244"
                     /gene_synonym="bA174C7.4; C6orf191"
                     /note="putative transmembrane protein C6orf191"
                     /codon_start=1
                     /product="putative transmembrane protein 244"
                     /protein_id="NP_001010876.1"
                     /db_xref="CCDS:CCDS34536.1"
                     /db_xref="GeneID:253582"
                     /db_xref="HGNC:HGNC:21571"
                     /translation="MALQVRVAPSKVVLQKFLLCVILFYTVYYVSLSMGCVMFEVHELN
                     VLAPFDFKTNPSWLNINYKVLLVSTEVTYFVCGLFFVPVVEEWVWDYAISVTILHVAIT
                     STVMLEFPLTSHWWAALGISKLLV"
     misc_feature    176..238
                     /gene="TMEM244"
                     /gene_synonym="bA174C7.4; C6orf191"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VVB8.1);
                     transmembrane region"
     misc_feature    320..382
                     /gene="TMEM244"
                     /gene_synonym="bA174C7.4; C6orf191"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VVB8.1);
                     transmembrane region"
     misc_feature    404..466
                     /gene="TMEM244"
                     /gene_synonym="bA174C7.4; C6orf191"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VVB8.1);
                     transmembrane region"
ORIGIN
        1 actactgcgt ctcacactta gtctccagga gtaattgaaa agctcacggt gacaattgtg
       61 tcttcttcca gatgtcatcg ctataaggag tggggctttc atcacctcct tgacgtagga
      121 tgtgtacatg gctctccagg tcagagttgc tccaagcaag gttgttttgc agaagtttct
      181 tctatgtgtc attcttttct acactgtgta ctatgtgtcc ctgagcatgg gctgcgtgat
      241 gtttgaggtg catgagttga atgtcctggc tccatttgat ttcaaaacaa atccctcatg
      301 gctcaacata aactataaag ttcttttagt ttcaacagag gtcacctact ttgtttgtgg
      361 attgtttttt gttccagttg tggaagaatg ggtttgggat tatgctattt cagtcactat
      421 tcttcatgtt gccatcactt caactgttat gttggaattc cccttgacat cacattggtg
      481 ggctgcttta ggtatatcaa aattgcttgt ttagattctc taatgcacag aaataatgtt
      541 aaatagaata actgtggaaa tatattttat tttctcatag attttacaa
//
LOCUS       NM_001010879            4291 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger protein interacting with K protein 1
            (ZIK1), transcript variant 1, mRNA.
ACCESSION   NM_001010879
VERSION     NM_001010879.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4291)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.241080.1,
            SRR1803614.212101.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000597850.2/ ENSP00000472867.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK092538.1, BC103958.1 and AC003682.1.
            On Nov 23, 2018 this sequence version replaced NM_001010879.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4291
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     gene            1..4291
                     /gene="ZIK1"
                     /gene_synonym="ZNF762"
                     /note="zinc finger protein interacting with K protein 1"
                     /db_xref="GeneID:284307"
                     /db_xref="HGNC:HGNC:33104"
     misc_feature    144..146
                     /gene="ZIK1"
                     /gene_synonym="ZNF762"
                     /note="upstream in-frame stop codon"
     CDS             213..1676
                     /gene="ZIK1"
                     /gene_synonym="ZNF762"
                     /note="isoform 1 is encoded by transcript variant 1; zinc
                     finger protein interacting with ribonucleoprotein K; zinc
                     finger protein 762; zinc finger protein interacting with K
                     protein 1 homolog"
                     /codon_start=1
                     /product="zinc finger protein interacting with
                     ribonucleoprotein K isoform 1"
                     /protein_id="NP_001010879.2"
                     /db_xref="CCDS:CCDS33135.1"
                     /db_xref="GeneID:284307"
                     /db_xref="HGNC:HGNC:33104"
                     /translation="MAAAALRAPTQVTVSPETHMDLTKGCVTFEDIAIYFSQDEWGLLD
                     EAQRLLYLEVMLENFALVASLGCGHGTEDEETPSDQNVSVGVSQSKAGSSTQKTQSCEM
                     CVPVLKDILHLADLPGQKPYLVGECTNHHQHQKHHSAKKSLKRDMDRASYVKCCLFCMS
                     LKPFRKWEVGKDLPAMLRLLRSLVFPGGKKPGTITECGEDIRSQKSHYKSGECGKASRH
                     KHTPVYHPRVYTGKKLYECSKCGKAFRGKYSLVQHQRVHTGERPWECNECGKFFSQTSH
                     LNDHRRIHTGERPYECSECGKLFRQNSSLVDHQKIHTGARPYECSQCGKSFSQKATLVK
                     HQRVHTGERPYKCGECGNSFSQSAILNQHRRIHTGAKPYECGQCGKSFSQKATLIKHQR
                     VHTGERPYKCGDCGKSFSQSSILIQHRRIHTGARPYECGQCGKSFSQKSGLIQHQVVHT
                     GERPYECNKCGNSFSQCSSLIHHQKCHNT"
     misc_feature    423..494
                     /gene="ZIK1"
                     /gene_synonym="ZNF762"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SY52.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2207..2212
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZIK1"
                     /gene_synonym="ZNF762"
                     /note="hexamer: AATAAA"
     polyA_site      2231
                     /gene="ZIK1"
                     /gene_synonym="ZNF762"
                     /note="major polyA site"
     regulatory      4273..4278
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZIK1"
                     /gene_synonym="ZNF762"
                     /note="hexamer: AATAGA"
     polyA_site      4291
                     /gene="ZIK1"
                     /gene_synonym="ZNF762"
                     /note="major polyA site"
ORIGIN
        1 agtggcggtc atttttgcag cgcttgggtg catccagacc gtcagagctt tgggagcgct
       61 ttgtttggcg acagtcggaa ggcgcgaggg gaggggtcct cccgctgaac agtgggggtt
      121 ctaagggtcg gcggcggcgg ggttgacggc tttgcctagg tccctccgcc cgtagctgtc
      181 gggtcccggc cccgctctgc ccacagactc cgatggctgc ggccgcgctg agggccccga
      241 ctcaggttac tgtgtctcca gaaacacata tggacctcac aaagggctgt gtgacctttg
      301 aggacatcgc catttacttc tcacaggacg agtggggact tcttgatgag gctcagagac
      361 tcctgtacct tgaagtgatg ctggagaact ttgcccttgt agcctcactg ggttgtggcc
      421 atggaacaga ggatgaagag acaccttctg accagaatgt ttctgtagga gtgtcacagt
      481 caaaggcagg ttcatccaca cagaagactc aatcctgtga gatgtgtgtc ccagtcctga
      541 aagatatttt gcatctagct gatctccctg ggcagaaacc atacttggtt ggagaatgta
      601 caaaccatca ccagcaccag aagcatcaca gtgcaaagaa atccttgaag agggacatgg
      661 acagagcctc atatgtgaag tgctgcctat tctgtatgtc attgaagccc tttcgcaaat
      721 gggaggttgg aaaggacctt ccagccatgt tgcggcttct gaggtccctg gtctttcctg
      781 gaggcaagaa acccggcaca attactgaat gtggggagga cattcgcagt caaaaaagtc
      841 attacaagtc aggtgaatgt gggaaggctt ccaggcacaa acacactcct gtttaccatc
      901 caagagtcta cactggaaaa aagctttatg agtgtagcaa atgtgggaaa gccttccgtg
      961 gcaagtactc acttgttcag caccagagag tccatactgg agaaaggcct tgggagtgca
     1021 atgaatgtgg aaaattcttt agccaaacct cccacctgaa tgatcatcgg agaatccaca
     1081 ccggagaaag gccttatgag tgcagcgaat gtggaaaatt atttagacaa aactccagcc
     1141 ttgttgacca ccagaaaata cacactggag caaggcctta tgagtgtagc cagtgtggga
     1201 aatcctttag ccaaaaagcc acccttgtta aacaccaaag agttcacact ggagaaaggc
     1261 cttataagtg tggtgaatgt gggaattcct ttagtcaaag tgccattctt aatcaacacc
     1321 gaagaattca cactggagca aagccttatg agtgtggcca gtgtgggaaa tcctttagtc
     1381 aaaaagctac cctcattaaa caccagagag ttcacactgg agaaaggcct tataagtgtg
     1441 gtgactgtgg gaaatccttt agtcaaagct ccatccttat tcaacaccgg agaattcata
     1501 ctggagcaag gccttatgag tgtggccagt gtggaaagtc ctttagccaa aagtctggtc
     1561 tcattcaaca ccaagtggtt cacactggag aaaggcctta tgagtgcaac aaatgtggga
     1621 attcctttag ccaatgctcc agcctcatac atcaccaaaa atgtcataac acatagaggc
     1681 ctcatgaatg cagcaaatgt ggaagcgcct tcaactcaag atctatcatc atttagctcc
     1741 tgaaagtcca cacttaagta gagccttaga cctacaggga aagtgctgtc tctgtagtat
     1801 tgtagcagta gagagccttt gtgagggagc catctgcctg aagttgaacc tcattcttcc
     1861 ttgtttctct ggtagaaacc atctaccctc taccaccttg cacagtgggc actggtcact
     1921 cctatgtgct aagacaaggc agacatctgt gtgttctctt aagtctttgg aggaaatctt
     1981 gagcagtcta agcctttaga gaaaattcat tcttttttct gactgatcac agcatacgtg
     2041 tgacccagtt tgggtcagga gggcccagcc ttggttctgc tggacactta tgtgcaagga
     2101 ttcccttcat gtaaattctt ggtctcacat gacacttggt cattcttcca gcctccatgt
     2161 caccacgtgg tgaatggctg cctcacattg ctccagtttg tgcactaata aaagccttat
     2221 atttgaatct acctgtagtc ttggggttct gtttactgtg tggggtggct gggagacaga
     2281 cttcaactct atatgaagga atggatggct tttgtgggcc tctgcaggaa agtaagatga
     2341 cagagtaatt ctaattctgg ttttggtcat acttgctttg ctacctaaaa tctcctagga
     2401 aaaaatgcaa ggttttggtt attctaattt gtggcctgga tccctattct ttctgtgaga
     2461 ctagaggtca tcctgaggag aggccagctg ttatgacaag catgtgtgct tcagggaata
     2521 ggacaatttt attccattgt ttccagagga tgtcatatga tgcccagtgc tgctgagaag
     2581 cttttcatgg ggttctataa ggaggcatgc cctgatatca aacattccat aggccgatgt
     2641 cacgcagaag acaacgcgag tcacatgtga actgtaattg gtacagaaat acctgggtat
     2701 ttctgtactg tgtgtactgt agcaaactag ttggaatgtg cctcttataa aagtacattt
     2761 acaaatcttc ccgtgactgt ggctttgagc agtcatagga cctagaaatc tgtgtatgtc
     2821 caatagctga ggttattttc agcaaaaata attaaagggt tttatttttt aattcttgtt
     2881 ggttttctag gttgttcacc tcaagtgcat tgctgtagag gcagaaaaag gaggataaag
     2941 ataacagaag tcctataggc cagggatgta ttgatagctc ttgtgatttc caccagtgtt
     3001 gctgttgtct caaattgcca cagccttcat tgcttgccaa catttcctgc atggagggac
     3061 tcatggttgc ccttccccag gcctgaagag agagtgcagt caacatgaga ttgctaggca
     3121 ttctggtttc tgaaagttgg gtgatcagat actttattgt gaaacatgtt ttacaaactt
     3181 tcttgatgtg taagtgacat gccatagttt acatccattt atggtgtata atttgaagag
     3241 tttgtcatac aagcctgtga aaccataatc atgatcatga acatattcat gattcacctc
     3301 ttgctgtttt acaatctctg cgtgtacttt ccaggccttc aggagtcctg tcatttactt
     3361 tccctacagg agaatagttt gtgttttcta ggattttatg tgaattgaaa cgtaaaatac
     3421 ttactccatt tttcctgatg atgcacaatt tttttttttt ttttgagatg gagtctcagt
     3481 ctgtcaccag gctggagtgc agtggcatga tcttggctca ctccaacctc ctcctgggtt
     3541 ccagcgattc tcctgcctca gcctcctgag aagctaggac tacaggcatg cactaccacg
     3601 cccaactaat ttttgtattt ttagtagaga tgtggtttta ccatgtttgc caggatggtc
     3661 ttgatctctt gacctcgtga tccgcccgcc tcagcctccc gaagtgctgg gattacaggc
     3721 gtaagccacc acaccagctg atgcacaatt acttttaaga tttatcaata ttgcttatgt
     3781 gaatagttca tttgtattgc tgagaaatag tctgtggata tgtcacaatt tggataaaca
     3841 gttggatgct ttccagtttt gggctgttgc aaataatgct actatgaaca taggcatata
     3901 actcttaata tgcagaaatg ctttatttct cctgtgtcag tagtacagtg tacgtgaatg
     3961 cgtcactttt aaagacaagg ccagactata acctaactgt accatttgca ttctcatcaa
     4021 cagtatgtga accttcttat ttctctacat tcttgccata cttggtatgg ttagtctttt
     4081 taattttagt tgttttaata gctgtataat agcatctgtc tgtgatttta ttgcattttt
     4141 ctggtatttt atggtattga acatttgaac atcttgtatc tagttgccac ctgtatatcc
     4201 tctttggaag aatgtttatt aatgtctttt gcttattttt aaatggatgt tggtgatact
     4261 ttttcattaa taaatagacg tataacaaag a
//
LOCUS       NM_001010881            4672 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens chromosome 1 open reading frame 167 (C1orf167), mRNA.
ACCESSION   NM_001010881
VERSION     NM_001010881.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4672)
  AUTHORS   Mo XB, Lei SF, Zhang YH and Zhang H.
  TITLE     Examination of the associations between m6A-associated
            single-nucleotide polymorphisms and blood pressure
  JOURNAL   Hypertens Res 42 (10), 1582-1589 (2019)
   PUBMED   31175347
REFERENCE   2  (bases 1 to 4672)
  AUTHORS   Genno PG, Nemer GM, Zein Eddine SB, Macari AT and Ghafari JG.
  TITLE     Three novel genes tied to mandibular prognathism in eastern
            Mediterranean families
  JOURNAL   Am J Orthod Dentofacial Orthop 156 (1), 104-112 (2019)
   PUBMED   31256822
REFERENCE   3  (bases 1 to 4672)
  AUTHORS   van Meurs JB, Pare G, Schwartz SM, Hazra A, Tanaka T, Vermeulen SH,
            Cotlarciuc I, Yuan X, Malarstig A, Bandinelli S, Bis JC, Blom H,
            Brown MJ, Chen C, Chen YD, Clarke RJ, Dehghan A, Erdmann J, Ferrucci
            L, Hamsten A, Hofman A, Hunter DJ, Goel A, Johnson AD, Kathiresan S,
            Kampman E, Kiel DP, Kiemeney LA, Chambers JC, Kraft P, Lindemans J,
            McKnight B, Nelson CP, O'Donnell CJ, Psaty BM, Ridker PM,
            Rivadeneira F, Rose LM, Seedorf U, Siscovick DS, Schunkert H, Selhub
            J, Ueland PM, Vollenweider P, Waeber G, Waterworth DM, Watkins H,
            Witteman JC, den Heijer M, Jacques P, Uitterlinden AG, Kooner JS,
            Rader DJ, Reilly MP, Mooser V, Chasman DI, Samani NJ and Ahmadi KR.
  TITLE     Common genetic loci influencing plasma homocysteine concentrations
            and their effect on risk of coronary artery disease
  JOURNAL   Am J Clin Nutr 98 (3), 668-676 (2013)
   PUBMED   23824729
REFERENCE   4  (bases 1 to 4672)
  AUTHORS   Ban HJ, Heo JY, Oh KS and Park KJ.
  TITLE     Identification of type 2 diabetes-associated combination of SNPs
            using support vector machine
  JOURNAL   BMC Genet 11, 26 (2010)
   PUBMED   20416077
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator) Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 4672)
  AUTHORS   Matarin M, Brown WM, Dena H, Britton A, De Vrieze FW, Brott TG,
            Brown RD Jr, Worrall BB, Case LD, Chanock SJ, Metter EJ, Ferrucci L,
            Gamble D, Hardy JA, Rich SS, Singleton A and Meschia JF.
  TITLE     Candidate gene polymorphisms for ischemic stroke
  JOURNAL   Stroke 40 (11), 3436-3442 (2009)
   PUBMED   19729601
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 4672)
  AUTHORS   Tran P, Leclerc D, Chan M, Pai A, Hiou-Tim F, Wu Q, Goyette P,
            Artigas C, Milos R and Rozen R.
  TITLE     Multiple transcription start sites and alternative splicing in the
            methylenetetrahydrofolate reductase gene result in two enzyme
            isoforms
  JOURNAL   Mamm Genome 13 (9), 483-492 (2002)
   PUBMED   12370778
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000688073.1/ ENSP00000510540.1
            RefSeq Select criteria    :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY031308.1, HY056181.1, BC128091.1, AL953897.6, AL833920.1,
            AL834308.1, AL833926.1 and AF398935.1.
            On Jun 2, 2019 this sequence version replaced NM_001010881.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4672
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     gene            1..4672
                     /gene="C1orf167"
                     /note="chromosome 1 open reading frame 167"
                     /db_xref="GeneID:284498"
                     /db_xref="HGNC:HGNC:25262"
     misc_feature    64..66
                     /gene="C1orf167"
                     /note="upstream in-frame stop codon"
     CDS             184..4533
                     /gene="C1orf167"
                     /codon_start=1
                     /product="uncharacterized protein C1orf167"
                     /protein_id="NP_001010881.1"
                     /db_xref="CCDS:CCDS90862.1"
                     /db_xref="GeneID:284498"
                     /db_xref="HGNC:HGNC:25262"
                     /translation="MELRSDASHKENVSPKPAALPKPEQRRFRRSLGIGLSGRHDQWVP
                     GCQVERGGPAATPSPGAVLDQEPCRVQTNLASPGPRLGLALKDTTGQLVNSSFWQQSNL
                     QSLARRRQGKAREFAIQQSNLSINETSSPHLCPEPGGSSGPHKLPWGPLLSQEPLARPS
                     SCLRQSGLPAPGTPSGDFRPTEAFAPLDGHTQPGLRSWGGLGSWRSRLVGEPLTLEDLA
                     VPSQNQTQAPSRAAVHQLLASVHCLAQEAARLRCQAPQEPPGAVQQDLWTGGGQPFSAH
                     PQPSQPVLASSDGRRRRLRGHRETAAFLETPASLSDSWAQSKLMSPETTLGTRTKDSLN
                     PEQGLPPAHPLGSGDSCSPWSQDGRAQRGDPSLPRGVGSRGTDPCSSAFSNTAWGVSPK
                     QKGEEGAPRERVHREEERTAFHLSDTVPASSASKNKAQNITAPESEAICWQLLSRCFRS
                     WRHLVKRQREPAAAAVALGRWQLLRKCLQALWLREAQLEAAWGQYTKVLLVRSFREWRN
                     LALQQKQVQPHMQAGPGSPPSRRAQGKGLSLGRSTVVDPAQRSRLEHTSPGSLREEEIA
                     QRLLSHPRQRTDSRHERVQILQALQLAVFFLWCQQKKRARQERETLRKATRATQRTGSF
                     PQAWHSTAAGVAWVAPLSPQHQRAWLCRCFGAWQQFVQRGSRYRDHLADRRTGTLRKCL
                     EQWVRMKQLRESDGAKVTQLSLCRQKAGREAVYTAGPGACGLGAVGQAQGQQEQGRGSL
                     QDACWTLALCWALLLWKMRLFQRQWANSFFQGLQQRMLQRSLRWWHLRALGPDATSSCT
                     KTPSALEPLSSSTLQDSLEKVPRAPTLPDTLQGSLLWAAGQRQQGQCLLLWQARAQQFQ
                     GTARWYQHTRQRRIFLSWSRWATAQWAWRELASHRAWDRTCRAVLGLWRQRLLQSRLVE
                     WWAQERGWRLARDALCHWHSCWQGQQFLHEKCQTWVQVHLQGLQKVVFRSWQQAAAHQR
                     CTVTRPEQLLLQSYFQAWCEVVRDTGVLRAQHQAFQDGLRRRALGAVFATWREAQEVAA
                     GAQEQRVAQASLARWRSCGQQGQEDGQQKKARAPQAFPAWPVAPGMHHEAQQQAGESAG
                     AQAAQCWTWCWALWVHESCRGQVSRAHASWKPRAWVLEASVQSAVRGGVQRAILTQLRP
                     AELRRFLRTVQLRVRLGLPGAGKTRSCWTQATELVPPAPSLQCSLGGRRKPRGTAWAQR
                     CREHSLCPAFQLWPQWPGQSSWVPGLPLWTRDQGPRAHSSPEPRACKAQSKAHKRRLRA
                     RSCRILEKQAQAHGSALLLALKGHDALGHQEEVPAAPVPRGTASRAAGFPAGQVPGSGM
                     AALGGCPRGRAAGADPAQGVAPEMGLADVVAADPATASGSAVTAAGRWAFKKWHQRLAA
                     RSPRRGAASSPRPWSKPGPKGPESGQEAARAPRGWGLGAEHGAQLQL"
     regulatory      4547..4552
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1orf167"
                     /note="hexamer: AATAAA"
     polyA_site      4565
                     /gene="C1orf167"
     regulatory      4649..4654
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1orf167"
                     /note="hexamer: AATAAA"
     polyA_site      4672
                     /gene="C1orf167"
                     /note="major polyA site"
ORIGIN
        1 gacgtcccct cccgcccgcg acctgccgac ctgcggggat cgttagcggt cccagccccc
       61 gtctagattc aaatccgact gggtgaagga ggacccgagg aggacccacg cacggcccat
      121 ctgattaaac agaccaggcc actcactgtg gagtggacca aggatactcc tgtccctgag
      181 cccatggagc taaggtctga tgccagccac aaggagaatg tgtccccaaa gcctgcagcg
      241 ctcccgaagc cagagcaacg aagattccgg aggagcctgg gcatcggcct gagtggtaga
      301 catgaccagt gggtgcccgg gtgccaggtg gagaggggag ggcctgctgc cacaccctcc
      361 ccaggggcag tgctagacca ggagccctgc cgagtccaga ccaacctggc cagccctggt
      421 ccccgcctgg gcctagctct gaaggacacg actggccaac tggtcaattc aagcttctgg
      481 caacagagca acctgcagtc cctggccagg aggcgccaag ggaaggcccg agagtttgcc
      541 atccagcaga gcaacctgag catcaacgag accagcagcc cccacctctg cccagagcct
      601 gggggaagct ctgggcccca caagcttccc tggggtcctc tcctatccca agagccactg
      661 gctcgcccat cttcctgcct gaggcagtcc gggctgccgg ccccaggcac ccctagcggg
      721 gacttcaggc ccactgaagc ctttgcccct ctcgatgggc atacacagcc aggcctcaga
      781 tcctggggtg gtctggggag ctggaggtcc aggctggtgg gggaacctct caccctggag
      841 gacctggctg tccccagtca gaaccagact caggccccat cccgtgctgc cgtccaccag
      901 ctgctggctt ctgtacattg cctggcgcag gaggcagccc gactcaggtg ccaggctccc
      961 caggaacccc ccggtgctgt gcagcaggac ctctggaccg gcggcggcca gccattctcc
     1021 gcccaccccc agcccagcca gcctgtcctt gcttcctcgg atgggaggag gagacgcctt
     1081 cgaggccaca gggaaactgc ggctttcttg gagaccccgg ctagtctctc agactcttgg
     1141 gcacaaagca agctaatgtc acctgagacc actttgggga cacggaccaa ggattccctt
     1201 aatcctgagc aggggctccc tcctgcccac cccctagggt caggggacag ctgctccccc
     1261 tggtctcaag atggcagggc acagaggggt gaccccagtc tccctcgagg ggtgggaagc
     1321 agggggaccg acccctgttc ctcagccttc tccaacacag cctggggagt ctcacccaag
     1381 cagaaaggag aggagggggc cccgagggag cgggtccaca gggaggagga gaggacagct
     1441 ttccatctgt cagacacagt cccagcgagc agtgcgtcga agaacaaggc acaaaacatc
     1501 acagccccag agtctgaggc aatctgctgg cagctgttgt ccagatgttt tcgatcctgg
     1561 aggcacttgg tgaagaggca gcgggagcca gcggcggcgg cagtggcact gggccgctgg
     1621 cagctgttgc gaaagtgcct tcaggccttg tggctccggg aggctcagct ggaggcagca
     1681 tgggggcagt acacaaaggt tctgctggtc cggagcttcc gagagtggag aaacctggct
     1741 ttacagcaga aacaagtaca gccccacatg caggctgggc cagggtcccc gccctccagg
     1801 agagcccagg gcaaaggcct ctccttggga agaagcacag tggtggaccc cgcccagaga
     1861 agcaggctgg aacacaccag tccaggaagt ctgagggagg aggagattgc tcagcggctt
     1921 ctgtcacatc ctaggcagag aacagacagc agacacgaga gagtccagat cctgcaggcc
     1981 ctgcaactgg ctgtgttctt cctgtggtgc caacagaaga aacgggccag acaggagagg
     2041 gagactctgc ggaaggccac cagggccaca cagaggacag ggagcttccc ccaggcctgg
     2101 cactctactg ctgcaggtgt agcctgggtg gccccactga gcccccagca ccagagagct
     2161 tggctgtgca ggtgcttcgg ggcgtggcag cagttcgtgc aaagagggtc ccggtaccga
     2221 gaccacctgg ctgaccgccg gacggggacc ctgaggaaat gcctggaaca gtgggtgcgg
     2281 atgaagcagc tccgggaatc agatggggca aaggtgaccc agctgtccct ctgccggcag
     2341 aaagcaggac gtgaggctgt ctacaccgca ggccctggag cctgtggcct gggtgcagtg
     2401 ggccaggccc aggggcagca ggagcaaggc cggggctccc tgcaggatgc ctgctggaca
     2461 ctggccctct gctgggcgct gctgctgtgg aagatgcggc ttttccagcg ccagtgggcc
     2521 aactccttct tccagggcct gcagcagcgg atgctgcagc gcagcctgag atggtggcac
     2581 ttgagggcac tgggcccaga tgccacatca agctgcacca agaccccctc ggctctggag
     2641 ccactgagca gcagcacact ccaagactct ctggagaagg ttcccagggc ccccaccctc
     2701 ccggacactc tccaggggag ccttctgtgg gcagctgggc agcggcagca ggggcagtgc
     2761 cttctgctct ggcaggcacg ggcccagcag ttccagggca cagccaggtg gtaccagcat
     2821 acccgccaga ggcgcatctt cctcagctgg agccgctggg caacagccca atgggcctgg
     2881 agagagctgg cttcccaccg ggcctgggat cggacctgca gggctgtgct gggcctgtgg
     2941 cgtcagcggc tgctgcagtc acggctggtg gagtggtggg cccaggagcg gggctggcgg
     3001 ctggcacgag atgccctatg ccactggcac tcctgttggc aggggcagca gttcctgcat
     3061 gaaaagtgcc agacatgggt gcaggtccac ctccagggcc tgcagaaggt ggtgttccgg
     3121 agctggcagc aggcagcagc tcatcagaga tgcacagtga cccggccaga gcagctgcta
     3181 ctgcagagct acttccaggc ctggtgtgag gttgtaagag acacgggggt gctccgggcc
     3241 cagcatcaag cctttcagga tggcctgagg agaagagcac tgggggccgt gtttgccaca
     3301 tggcgggaag cccaggaagt ggcagccggg gcacaggagc agcgtgtggc ccaggcctcc
     3361 cttgcccgct ggagaagctg cgggcagcaa ggccaggaag atgggcagca gaagaaggcc
     3421 cgggccccac aggccttccc agcatggcca gtggccccgg gcatgcacca tgaggcccag
     3481 cagcaggcag gagagagcgc tggggcccag gcagcccagt gctggacttg gtgctgggct
     3541 ctgtgggtgc atgagtcctg tcggggccag gtcagccgag cccatgcttc ctggaagccg
     3601 cgagcctggg tcctagaggc ctcggtgcag tcggcggtgc gcggcggtgt ccagcgagcc
     3661 atcctcaccc agctccggcc ggctgagctc aggcgcttcc tgcggacagt gcagctcagg
     3721 gtgcggctgg gactgccagg ggccggcaag acccgcagct gctggacaca ggccacagag
     3781 ctggtgcctc ccgcgccatc actgcagtgc agcctgggtg gacggaggaa gccaagggga
     3841 acggcctggg ctcagaggtg cagggaacat tccctctgcc ctgccttcca gctctggcca
     3901 cagtggcctg gacagagtag ctgggtccca ggcctgcccc tgtggacgag ggaccaggga
     3961 ccaagagcgc actccagccc tgagcccaga gcctgcaaag cccaaagcaa ggcccataaa
     4021 cggaggctac gtgctcgttc ctgcaggatc ctggaaaagc aggcccaggc ccatggctct
     4081 gccctccttc tggccctgaa gggtcacgat gctcttggcc atcaggagga agtacctgca
     4141 gcgccggtgc ctcgaggcac tgcttcacgg gctgcggggt tcccagcagg ccaggtgcct
     4201 ggcagtggca tggcagcact gggtggatgc ccaaggggca gagcagctgg tgcggaccct
     4261 gctcagggag tggcacctga gatgggcctg gcagacgtgg tggcagcgga tcctgcgact
     4321 gcgagtggct cagcagttac agcagcagga agatgggcct ttaagaagtg gcaccaacgc
     4381 ctggcagcca ggagcccaag gagaggagct gccagtagcc caagaccctg gagcaagcca
     4441 ggccccaagg gccccgagag tggacaggaa gccgccagag caccgcgggg ttgggggctt
     4501 ggggcagagc atggggccca gctgcagctg tgacttgttc tcatagaata aaaaacagaa
     4561 ctgaacttag ccttcccagg gaaggaacca tgccccacac atccagggag tgatgacaga
     4621 ggggacagct tgaagagctc tgaaggacaa taaaacccac tcctcagtcc ta
//
LOCUS       NM_001010883            5584 bp    mRNA    linear   PRI 05-MAR-2023
DEFINITION  Homo sapiens EEIG family member 2 (EEIG2), mRNA.
ACCESSION   NM_001010883
VERSION     NM_001010883.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5584)
  AUTHORS   Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu
            C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J and Stanton
            LW.
  TITLE     Transcriptome characterization elucidates signaling networks that
            control human ES cell growth and differentiation
  JOURNAL   Nat Biotechnol 22 (6), 707-716 (2004)
   PUBMED   15146197
REFERENCE   2  (bases 1 to 5584)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz
            TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha
            SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA,
            McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley
            KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM,
            Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan
            A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko
            Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC,
            Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS,
            Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones
            SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
REFERENCE   3  (bases 1 to 5584)
  AUTHORS   Bonaldo MF, Lennon G and Soares MB.
  TITLE     Normalization and subtraction: two approaches to facilitate gene
            discovery
  JOURNAL   Genome Res 6 (9), 791-806 (1996)
   PUBMED   8889548
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.227443.1,
            SRR1803613.57175.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370035.8/ ENSP00000359052.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL160171.27.
            On Nov 23, 2018 this sequence version replaced NM_001010883.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5584
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..5584
                     /gene="EEIG2"
                     /gene_synonym="FAM102B; SYM-3B"
                     /note="EEIG family member 2"
                     /db_xref="GeneID:284611"
                     /db_xref="HGNC:HGNC:27637"
     CDS             330..1412
                     /gene="EEIG2"
                     /gene_synonym="FAM102B; SYM-3B"
                     /note="protein FAM102B; sym-3 homolog B; family with
                     sequence similarity 102 member B"
                     /codon_start=1
                     /product="EEIG family member 2"
                     /protein_id="NP_001010883.2"
                     /db_xref="CCDS:CCDS30786.2"
                     /db_xref="GeneID:284611"
                     /db_xref="HGNC:HGNC:27637"
                     /translation="MMKKKKFKFKVDFELEELSSVPFVNGVLFCKMRLLDGGSFTAESS
                     REVVQANCVRWRKKFSFMCKMSASAATGILDPCIYRVSVRKELKGGKAYAKLGFADLNL
                     AEFAGSGNTTRRCLLEGYDTKNTRQDNSILKVLISMQLMSGDPCFKTPPSTSMSIPIAG
                     ESESLQEDRKGGETLKVHLGIADLSAKSASVPDELGACGHSRTSSYASQQSKVSGYSTC
                     HSRSSSFSELCHRRNTSVGSTSTGVESILEPCDEIEQKIAEPNLDTADKEDTASEKLSR
                     CPVKQDSVESQLKRVDDTRVDADDIVEKILQSQDFSLDSSAEEEGLRLFVGPGGSTTFG
                     SHHLPNRVGSGAYEQVVIKR"
     misc_feature    1011..1013
                     /gene="EEIG2"
                     /gene_synonym="FAM102B; SYM-3B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T8I3.2); phosphorylation site"
     misc_feature    1155..1157
                     /gene="EEIG2"
                     /gene_synonym="FAM102B; SYM-3B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T8I3.2); phosphorylation site"
     misc_feature    1191..1193
                     /gene="EEIG2"
                     /gene_synonym="FAM102B; SYM-3B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T8I3.2); phosphorylation site"
     misc_feature    1287..1289
                     /gene="EEIG2"
                     /gene_synonym="FAM102B; SYM-3B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T8I3.2); phosphorylation site"
     misc_feature    1290..1292
                     /gene="EEIG2"
                     /gene_synonym="FAM102B; SYM-3B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5T8I3.2); phosphorylation site"
     misc_feature    1377..1379
                     /gene="EEIG2"
                     /gene_synonym="FAM102B; SYM-3B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T8I3.2); phosphorylation site"
     regulatory      5564..5569
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EEIG2"
                     /gene_synonym="FAM102B; SYM-3B"
                     /note="hexamer: AATAAA"
     polyA_site      5584
                     /gene="EEIG2"
                     /gene_synonym="FAM102B; SYM-3B"
                     /note="major polyA site"
ORIGIN
        1 agacgggcgg cagcggcggc ggaggcggcg gcggcggcgg cggcgagctg agcaccaaaa
       61 gggcgctcac ctccccgggc gagctgcagc acgaccgctc cccgcgggcg gtcggggtcc
      121 gcgccgcagc tgccgccgcg ttccggccca ggctgccgcg agaggcggcg gcagcggccc
      181 cggccgcggc cggcctgcgg cgccccccgg ccgcgccccc gcgcacagct cgcggccccg
      241 gccatggggc tgggctgatc cggggctcgg ccaagctgag gcggcggcgc ccggccgtgc
      301 gcccagcttg caggcgcctg gctctcacga tgatgaagaa gaagaagttt aagtttaagg
      361 tggacttcga gctcgaggag ctctcctcag tgcccttcgt caatggggtc ctcttctgca
      421 agatgcggct gctggacggc ggcagcttca ccgccgagtc ctccagggag gtggtacaag
      481 caaactgtgt tcgctggaga aagaagttct catttatgtg caaaatgagt gcaagtgctg
      541 ccacaggcat cctagatcct tgtatctaca gagtatccgt gaggaaggaa ttaaaaggtg
      601 gaaaagctta tgcaaagctg ggctttgcag atctaaacct ggcagagttt gctggatcag
      661 gaaataccac tcgccgctgt ttactggaag gctatgatac caaaaataca agacaggata
      721 attccattct taaagttttg atcagtatgc aactgatgtc tggtgaccca tgttttaaaa
      781 cgcctccctc cacttcaatg tctataccaa ttgctggtga atctgaatct ttgcaagaag
      841 atagaaaagg tggagagact ctcaaagtgc atcttggaat agcagatctt tcagcaaaga
      901 gtgcctctgt tccagacgaa cttggtgcct gtggacattc tagaacatca agctatgcaa
      961 gtcagcagtc aaaagtatca gggtatagca cgtgtcactc ccggtcatct agtttctctg
     1021 agctctgcca caggagaaat acctcagtgg gaagcacatc aacaggagtt gaaagtattc
     1081 tagagccatg tgatgaaatt gagcagaaaa tcgctgagcc aaatcttgat acagctgata
     1141 aagaagatac agcttcagaa aaactcagca gatgcccagt gaaacaagat tctgtagaat
     1201 ctcagctgaa gcgagttgat gacaccaggg tggatgcaga tgacattgta gagaaaatat
     1261 tacaaagtca agacttcagc ctagattcca gtgcggaaga agaaggacta aggctatttg
     1321 tgggtcctgg gggaagtaca acctttggca gtcatcatct tccaaatagg gtggggtctg
     1381 gagcttatga acaagttgtg atcaaacgct agaagtcaag tcggtgaaaa catttccttg
     1441 tggatttaag atgtgagtag ttgatgtatc aaggcatttt attcaagcac ttaatagaaa
     1501 atgaacctca actatcaaga ggaaagccaa tgctggtttc ttctctggaa ggacccaccg
     1561 ccatcctgta ccagccacca aaggggaaca tctacatggc agtctccagg cactgtgcca
     1621 ctgtgtgcct tggaagcacc tggcttctgt ggtcactgca catcataatg aaaagcctgc
     1681 tttttctttc agaacacccc agcggagaaa acagcattat atacatcgga gtatcatttt
     1741 aggattcaag tgtaaaaatc tgtgatcaag aggctcaata gatttgggct ctatggtttg
     1801 gtttttttag tttgagagac agtacatgaa tataacttaa accctataga ttttgtcaag
     1861 atagttgtaa ttcctgttct ggaaatcttc cctattacac tacctacagc attgtataaa
     1921 gtgtgggtgt tcatgctttg ggaaaatgtt agactacaat ttaaacatgt gatgtgctta
     1981 ttcataattc tcagtgtatc agtcataaat gaaataacaa gtgcatttaa gtcagagata
     2041 cgtgaatgga tgtaatgccg ttatgcagta tatattgtta attgtcatta atattagatg
     2101 agctgcagaa ccacccccaa gcactacata aaagactcaa aataagttta acacttactg
     2161 tgttgggcac cctaacagaa gagctatctt aactcattga atattaagat ctgctggttt
     2221 caggagtcaa aatgtagaaa aagaggagaa ttgtaatatg gtcagaaaca gagaagcctt
     2281 ttctatgtaa attcagactt atctgaggct aacagttttc cgaagtggtg gtgggtagca
     2341 gcatgacagc tgcttgccat gactgatgca gactactagg tttccatttt agctctctgt
     2401 aggtactgtt ttcttcccca ctgtgtcgaa agtgatttgt tttgaagcaa gagtagaata
     2461 taacatctat caaatatagc ttttaaaata agaatacctg gtctggatcc agttgagcag
     2521 cacagcagat aaaccttaga gtttttctgt tcttacatga cggtttccat gtggaaagat
     2581 ctaaactttc ttggaatcac tattagtgaa gaaaaatgta gaatctgtat aaccagtaat
     2641 tccccaattc ttactttcaa agtcatatcc aagaaagaca atatgtcaga atagaatgac
     2701 tttggtctag gtgttttcac gttggcaaaa ataaggagga aattatatta ttttaatatc
     2761 caaatttaaa ggtttggaaa attttgaata gttaatatta gaacttatgt tgctgttttt
     2821 tatatttcaa ggattgagta ttctgcatta atccaatact attccaacaa agagattctg
     2881 gaagttttta aaaaatgata ccctgtttta tattttgaat gtagagagac tctgagagag
     2941 agaatgttct gagttatact ttttattttt taagatttat ttttaagaat aaaacattga
     3001 cctgaacatt ttagcctaac caagggactt aagtggtaaa gacttgcatt atgtcttcat
     3061 gtgaactgat ccgttcatta tatattatgg gaaaaatcaa agaaagtttt ttatagagat
     3121 atgaagatat tatttagaga gatatttatt atgacatttt ttaaaaacat atttttctat
     3181 tttcaaaata ttatttctag gctatatttt tattggtgct gtgcaaatga ttttgcagtt
     3241 ttgaaaatga taaaactaga ttgtaagtgg ggttcagtga ggacattcat cagacacgta
     3301 agaggtgctg caatcagggt gatgcccatc ttactcatcc ttggctgccc ttggtccgac
     3361 acctctctat acaagactgg ttctcagtat tttaaatggt acagaattct ttttaaaaag
     3421 tagagagatt ttgaaaagca taaaaatcat gcctttataa tcttagcagc catcagatac
     3481 accttgattt atgtagtagt aaatataaca aatattttaa taaatagaaa cactgataag
     3541 gaagaaaaaa gaactaatgt ctatgtcttc tgtagtcagc aaaagtctgg atccattttc
     3601 tattttgtgt tccattggca cactttgtgt tcaaatttca gtgcagtcct ttcaaaatac
     3661 tcgctaaggg ttgcctaagt gtctgcctta ctttctgatt gtccttttct gagagcatgg
     3721 ttaagaacat cttaaccata tagctgttga aaaaatctgt ttattaaata acaagttcac
     3781 ttctgtttat gttttgagtt tagaaaattt gacttgaaaa tttagattat taataaattt
     3841 atttttaaat attaaagtca aatttcaaat cacccagtgt tgaagaattt gcagatgtat
     3901 acaatacttt ttctaattat gtcttttcta tctccatgcc tggctttttc taattatatc
     3961 ctagagaaaa agactaatgg tatttcaaag ctgtgtattt gtgacgagat aaagaagagt
     4021 cttaaacatc ttgtttggga gaatgcacag gccagtcagg agacccacct cctcctgtgc
     4081 cctgagctgc tgagacccga cagatcatga aggctagtaa agggcagaga aggccctgag
     4141 ccatcagttt acactcgaat tgttgactcc cctttgtggt gtttttgaag gctgcttata
     4201 ccaacagcta atgtggatta gtgcttatga tcttgaaaaa gtcttgacca agaatcctaa
     4261 actccaccac tcctcccatt ccagcttaac actatcagaa taatatccaa attccagatt
     4321 tttttctttt ttactttttt ttcttccttt tttaagagag acagtgtctt gctcggtcac
     4381 ctaggctgga gtgtagtggc gcaatcgttg ctcactacag cctcccaact cccaggctca
     4441 aatgagcctc ccaccttggc ctcccaaagt gctaggacca caggcatgag ccactgtgcc
     4501 cagcctagtt tcttttctgt atgctttttt tacaaaactg tgagccacag aggttgacca
     4561 cttagccaat ttgttgctag aagggagaaa aaaatctcca actagcctcc agacaaaaca
     4621 tactcaaatt caaacagcag ttagttttaa ttaacataca gaagtaattt tagactttca
     4681 gatttctatg ctgactagaa cactttgcag gctgaagctg acattattac caaatacttc
     4741 atttaagtac atactctgaa gtgtcaggct tccagtatat atagcaacgc tctgagagac
     4801 aaactgggct catatgacgg ggttgcattt tattttctta acaggtcttt aaattgggca
     4861 gttctgaaat tctgtttggt cagttctaga tggtacgtca tgtgaatgca accaagcact
     4921 gtagttgaaa ttgtgttatg ccactactca tgttgtctta ggtactacgc ataatgttaa
     4981 tagctgagat gttaaagaat ttgaagtcta aaatataaaa gatgaatata cccatattaa
     5041 tcctatgtta agatgctctg gaaataaagg ccttattccc ttacacatgc gatttttgta
     5101 agataatata tacacagtat attttaaatg tttgtgtggg tggtctgtgt agttactccc
     5161 catacaacaa agctgacaaa atttttaatt tacacaatgt attctgcatt ttcaaatgtt
     5221 tatgttgtgt atatagcaaa gaaattatct tactgatatg cgttgaccaa atcccatgga
     5281 gaaaagacat ctcatttgag gttccccttc ctctcatgtg tttgattttt tggaaggtga
     5341 tacagtatgt gggtaaccat gcaaatgttt atgaataact ttactgaagt gattccatcc
     5401 gtattctgtt ctaatacttg gagaatgacc ttcatattta tatattttat ttctttgttt
     5461 caactatcca gtgataattc aggaaatgtt tccttttttt ttttttttta caaaaacttt
     5521 ttatttgtaa aatgtttgta ataatgtaaa ggtgaacatg ttcaataaaa atcatatatt
     5581 aaaa
//
LOCUS       NM_001010886             598 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens colipase like 1 (CLPSL1), transcript variant 1, mRNA.
ACCESSION   NM_001010886
VERSION     NM_001010886.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 598)
  AUTHORS   Li JY, Wang HY, Liu J, Liu Q, Zhang JS, Wan FC, Liu FJ, Jin SH and
            Zhang YL.
  TITLE     Transcriptome analysis of a cDNA library from adult human epididymis
  JOURNAL   DNA Res 15 (3), 115-122 (2008)
   PUBMED   18390568
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CO408426.1, DV643925.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000373861.6/ ENSP00000362968.5
            RefSeq Select criteria      :: based on computational evidence
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DV643925.1, BX106742.1 and DQ823638.1.
            On Nov 23, 2018 this sequence version replaced NM_001010886.4.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..598
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..598
                     /gene="CLPSL1"
                     /gene_synonym="C6orf127; dJ510O8.6; ESP32"
                     /note="colipase like 1"
                     /db_xref="GeneID:340204"
                     /db_xref="HGNC:HGNC:21251"
     misc_feature    66..68
                     /gene="CLPSL1"
                     /gene_synonym="C6orf127; dJ510O8.6; ESP32"
                     /note="upstream in-frame stop codon"
     CDS             93..458
                     /gene="CLPSL1"
                     /gene_synonym="C6orf127; dJ510O8.6; ESP32"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; colipase-like protein C6orf127; colipase-like protein 1"
                     /codon_start=1
                     /product="colipase-like protein 1 isoform 1 precursor"
                     /protein_id="NP_001010886.1"
                     /db_xref="CCDS:CCDS43456.1"
                     /db_xref="GeneID:340204"
                     /db_xref="HGNC:HGNC:21251"
                     /translation="MMLPQWLLLLFLLFFFLFLLTRGSLSPTKYNLLELKESCIRNQDC
                     ETGCCQRAPDNCESHCAEKGSEGSLCQTQVFFGQYRACPCLRNLTCIYSKNEKWLSIAY
                     GRCQKIGRQKLAKKMFF"
     sig_peptide     93..161
                     /gene="CLPSL1"
                     /gene_synonym="C6orf127; dJ510O8.6; ESP32"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      579..584
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLPSL1"
                     /gene_synonym="C6orf127; dJ510O8.6; ESP32"
                     /note="hexamer: AATAAA"
     polyA_site      598
                     /gene="CLPSL1"
                     /gene_synonym="C6orf127; dJ510O8.6; ESP32"
                     /note="major polyA site"
ORIGIN
        1 acatggtgtt cccacagctg ggaggacacc cacatggtcg gcgtgcagga tatttcgctg
       61 gaccctagaa aagccaccac gacctgtggg ccatgatgct accccaatgg ctgctgctgc
      121 tgttccttct cttcttcttt ctcttcctcc tcaccagggg ctcactttct ccaacaaaat
      181 acaacctttt ggagctcaag gagtcttgca tccggaacca ggactgcgag actggctgct
      241 gccaacgtgc tccagacaat tgcgagtcgc actgcgcgga gaaggggtcc gagggcagtc
      301 tgtgtcaaac gcaggtgttc tttggccaat atagagcgtg tccctgcctg cggaacctga
      361 cttgtatata ttcaaagaat gagaaatggc ttagcatcgc ctatggccgt tgtcagaaaa
      421 ttggaaggca gaagttggct aagaaaatgt tcttctagtg ctccctcctt cttgctgcct
      481 cctcctcctc cacctgctct cctccctacc cagagctctg tgttcaccct gttccccaga
      541 gcctccacca tgagtggagg gaagtgggga gtgattgaaa taaagagctt tttcaatg
//
LOCUS       NM_001010887            2773 bp    mRNA    linear   PRI 26-JUL-2023
DEFINITION  Homo sapiens alkaline ceramidase 2 (ACER2), mRNA.
ACCESSION   NM_001010887
VERSION     NM_001010887.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2773)
  AUTHORS   Zheng J, Jiang X, Jiang K, Yan Y, Pan J, Liu F, Wen Y and Li P.
  TITLE     miR-196a-5p Correlates with Chronic Atrophic Gastritis Progression
            to Gastric Cancer and Induces Malignant Biological Behaviors of
            Gastric Cancer Cells by Targeting ACER2
  JOURNAL   Mol Biotechnol 65 (8), 1306-1317 (2023)
   PUBMED   36513872
  REMARK    GeneRIF: miR-196a-5p Correlates with Chronic Atrophic Gastritis
            Progression to Gastric Cancer and Induces Malignant Biological
            Behaviors of Gastric Cancer Cells by Targeting ACER2.
REFERENCE   2  (bases 1 to 2773)
  AUTHORS   Zhang S, Huang P, Dai H, Li Q, Hu L, Peng J, Jiang S, Xu Y, Wu Z,
            Nie H, Zhang Z, Yin W, Zhang X and Lu J.
  TITLE     TIMELESS regulates sphingolipid metabolism and tumor cell growth
            through Sp1/ACER2/S1P axis in ER-positive breast cancer
  JOURNAL   Cell Death Dis 11 (10), 892 (2020)
   PUBMED   33093451
  REMARK    GeneRIF: TIMELESS regulates sphingolipid metabolism and tumor cell
            growth through Sp1/ACER2/S1P axis in ER-positive breast cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2773)
  AUTHORS   Xu R, Garcia-Barros M, Wen S, Li F, Lin CL, Hannun YA, Obeid LM and
            Mao C.
  TITLE     Tumor suppressor p53 links ceramide metabolism to DNA damage
            response through alkaline ceramidase 2
  JOURNAL   Cell Death Differ 25 (5), 841-856 (2018)
   PUBMED   29229990
  REMARK    GeneRIF: These results suggest that p53 mediates DDR and exerts its
            tumor suppressive role in part by regulating the expression of
            ACER2, which in turn regulates the bioactive sphingolipid lipids.
REFERENCE   4  (bases 1 to 2773)
  AUTHORS   Wang Y, Zhang C, Jin Y, Wang, He Q, Liu Z, Ai Q, Lei Y, Li Y, Song F
            and Bu Y.
  TITLE     Alkaline ceramidase 2 is a novel direct target of p53 and induces
            autophagy and apoptosis through ROS generation
  JOURNAL   Sci Rep 7, 44573 (2017)
   PUBMED   28294157
  REMARK    GeneRIF: Consistently, forced expression of p53 significantly
            stimulated ACER2 transcription. Notably, p53-mediated autophagy and
            apoptosis were markedly enhanced by ACER2. Depletion of the
            essential autophagy gene ATG5 revealed that ACER2-induced autophagy
            facilitates its effect on apoptosis. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2773)
  AUTHORS   Xu R, Wang K, Mileva I, Hannun YA, Obeid LM and Mao C.
  TITLE     Alkaline ceramidase 2 and its bioactive product sphingosine are
            novel regulators of the DNA damage response
  JOURNAL   Oncotarget 7 (14), 18440-18457 (2016)
   PUBMED   26943039
  REMARK    GeneRIF: Results suggest that the ACER2/sphingosine pathway mediates
            programmed cell death in response to DNA damage through ROS
            production.
REFERENCE   6  (bases 1 to 2773)
  AUTHORS   Sun W, Jin J, Xu R, Hu W, Szulc ZM, Bielawski J, Obeid LM and Mao C.
  TITLE     Substrate specificity, membrane topology, and activity regulation of
            human alkaline ceramidase 2 (ACER2)
  JOURNAL   J Biol Chem 285 (12), 8995-9007 (2010)
   PUBMED   20089856
  REMARK    GeneRIF: ACER2 has broad substrate specificity and requires Ca(2+)
            for its activity; ACER2 has the cytosolic C terminus and luminal N
            terminus, which are essential for its activity, correct cellular
            localization, and regulation for protein glycosylation
REFERENCE   7  (bases 1 to 2773)
  AUTHORS   Sun W, Hu W, Xu R, Jin J, Szulc ZM, Zhang G, Galadari SH, Obeid LM
            and Mao C.
  TITLE     Alkaline ceramidase 2 regulates beta1 integrin maturation and cell
            adhesion
  JOURNAL   FASEB J 23 (2), 656-666 (2009)
   PUBMED   18945876
  REMARK    GeneRIF: ACER2/sphingosine pathway plays an important role in
            regulating beta1 maturation and cell adhesion mediated by beta1
            integrins
REFERENCE   8  (bases 1 to 2773)
  AUTHORS   Xu R, Jin J, Hu W, Sun W, Bielawski J, Szulc Z, Taha T, Obeid LM and
            Mao C.
  TITLE     Golgi alkaline ceramidase regulates cell proliferation and survival
            by controlling levels of sphingosine and S1P
  JOURNAL   FASEB J 20 (11), 1813-1825 (2006)
   PUBMED   16940153
REFERENCE   9  (bases 1 to 2773)
  AUTHORS   Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X,
            Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X, Xu
            H, Guo M, Pan Z, Chen Y, Ge C, Yang S and Gu J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   10  (bases 1 to 2773)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.78002.1,
            SRR1660805.128610.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000340967.3/ ENSP00000342609.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK123581.1, AY312516.1, BC092487.1 and AL158206.8.
            On Nov 23, 2018 this sequence version replaced NM_001010887.2.
            Summary: The sphingolipid metabolite sphingosine-1-phosphate
            promotes cell proliferation and survival, whereas its precursor,
            sphingosine, has the opposite effect. The ceramidase ACER2
            hydrolyzes very long chain ceramides to generate sphingosine (Xu et
            al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2773
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p22.1"
     gene            1..2773
                     /gene="ACER2"
                     /gene_synonym="ALKCDase2; ASAH3L"
                     /note="alkaline ceramidase 2"
                     /db_xref="GeneID:340485"
                     /db_xref="HGNC:HGNC:23675"
                     /db_xref="MIM:613492"
     CDS             77..904
                     /gene="ACER2"
                     /gene_synonym="ALKCDase2; ASAH3L"
                     /EC_number="3.5.1.23"
                     /note="ceramide hydrolase; haCER2; alkCDase 2; alkaline
                     CDase 2"
                     /codon_start=1
                     /product="alkaline ceramidase 2"
                     /protein_id="NP_001010887.2"
                     /db_xref="CCDS:CCDS34992.1"
                     /db_xref="GeneID:340485"
                     /db_xref="HGNC:HGNC:23675"
                     /db_xref="MIM:613492"
                     /translation="MGAPHWWDQLQAGSSEVDWCEDNYTIVPAIAEFYNTISNVLFFIL
                     PPICMCLFRQYATCFNSGIYLIWTLLVVVGIGSVYFHATLSFLGQMLDELAVLWVLMCA
                     LAMWFPRRYLPKIFRNDRGRFKVVVSVLSAVTTCLAFVKPAINNISLMTLGVPCTALLI
                     AELKRCDNMRVFKLGLFSGLWWTLALFCWISDRAFCELLSSFNFPYLHCMWHILICLAA
                     YLGCVCFAYFDAASEIPEQGPVIKFWPNEKWAFIGVPYVSLLCANKKSSVKIT"
     misc_feature    77..115
                     /gene="ACER2"
                     /gene_synonym="ALKCDase2; ASAH3L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QJU3.2);
                     Region: Required for proper localization to the Golgi
                     apparatus. /evidence=ECO:0000269|PubMed:20089856"
     misc_feature    143..145
                     /gene="ACER2"
                     /gene_synonym="ALKCDase2; ASAH3L"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5QJU3.2); glycosylation site"
     misc_feature    173..235
                     /gene="ACER2"
                     /gene_synonym="ALKCDase2; ASAH3L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QJU3.2);
                     transmembrane region"
     misc_feature    263..325
                     /gene="ACER2"
                     /gene_synonym="ALKCDase2; ASAH3L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QJU3.2);
                     transmembrane region"
     misc_feature    335..397
                     /gene="ACER2"
                     /gene_synonym="ALKCDase2; ASAH3L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QJU3.2);
                     transmembrane region"
     misc_feature    449..502
                     /gene="ACER2"
                     /gene_synonym="ALKCDase2; ASAH3L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QJU3.2);
                     transmembrane region"
     misc_feature    506..568
                     /gene="ACER2"
                     /gene_synonym="ALKCDase2; ASAH3L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QJU3.2);
                     transmembrane region"
     misc_feature    596..658
                     /gene="ACER2"
                     /gene_synonym="ALKCDase2; ASAH3L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QJU3.2);
                     transmembrane region"
     misc_feature    710..772
                     /gene="ACER2"
                     /gene_synonym="ALKCDase2; ASAH3L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QJU3.2);
                     transmembrane region"
     regulatory      2752..2757
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACER2"
                     /gene_synonym="ALKCDase2; ASAH3L"
                     /note="hexamer: ATTAAA"
     polyA_site      2773
                     /gene="ACER2"
                     /gene_synonym="ALKCDase2; ASAH3L"
                     /note="major polyA site"
ORIGIN
        1 gccgcgtttt gcctccgcag cagctctggg ctcttctcag ctgcgcgagc agctgctcca
       61 atgccccgga gtggccatgg gcgccccgca ctggtgggac cagctgcagg ctggtagctc
      121 ggaggtggac tggtgcgagg acaactacac catcgtgcct gctatcgccg agttctacaa
      181 cacgatcagc aatgtcttat ttttcatttt accgcccatc tgcatgtgct tgtttcgtca
      241 gtatgcaaca tgcttcaaca gtggcatcta cttaatctgg actcttttgg ttgtagtggg
      301 aattggatcc gtctacttcc atgcaaccct tagtttcttg ggtcagatgc ttgatgaact
      361 tgcagtcctt tgggttctga tgtgtgcttt ggccatgtgg ttccccagaa ggtatctacc
      421 aaagatcttt cggaatgacc ggggtaggtt caaggtggtg gtcagtgtcc tgtctgcggt
      481 tacgacgtgc ctggcatttg tcaagcctgc catcaacaac atctctctga tgaccctggg
      541 agttccttgc actgcactgc tcatcgcaga gctaaagagg tgtgacaaca tgcgtgtgtt
      601 taagctgggc ctcttctcgg gcctctggtg gaccctggcc ctgttctgct ggatcagtga
      661 ccgagctttc tgcgagctgc tgtcatcctt caacttcccc tacctgcact gcatgtggca
      721 catcctcatc tgccttgctg cctacctggg ctgtgtatgc tttgcctact ttgatgctgc
      781 ctcagagatt cctgagcaag gccctgtcat caagttctgg cccaatgaga aatgggcctt
      841 cattggtgtc ccctatgtgt ccctcctgtg tgccaacaag aaatcatcag tcaagatcac
      901 gtgatggcaa gatggtggct ggcttctctg cttatcgccc ctcatgcagt gggcttcctt
      961 tgctaggaag acagccaagg gagttcgaat agttggggtg tgggctatct tttcaaaaat
     1021 ctatttgctg gggctcttaa tttctttagt gttctttgta tgtagggatt taaactttgt
     1081 catatggtac aaatattccc tgcccccctg cagtttccca tttgtctttc agtatgttaa
     1141 tatttttgtg ccatactggt tttaaacttt catgttgtca catctgttaa tcttttcttt
     1201 aggatttctg gattttgtgt aatttttaaa aaggtcccct cctcctccct aatgtgtctg
     1261 tggaccacct ggattccact gtacaagggg aaaagtgtct attcctttcc caaagatgga
     1321 aaatggaggg cttagggaca ctagatgcat ctttctcagc atcacttcca gatgcagtga
     1381 cttgttgggc tgcgtcctta atggccatgg cagagcagtc ccttggggga tccagccctg
     1441 tacaatgcat ctcttcctgg agaaagctgg cctgctccag accccaccat tcccaggcgc
     1501 ccttggagtg gactctactg atgacagaca gaccctctga gagacaagac cctctgactc
     1561 tgtgatggaa gatgccagag attttccttt ggggtaattg tccttaaaca aaaccaaaca
     1621 gatgaaacac acacaggact tgtggctaaa aaggctagtt tttcacttgc atttctcaac
     1681 taacccaggt tttacatgca tctgtgaatc cttttactac tacctctgtg gagagatgga
     1741 gagacttcag ataaacgtga agctaatgag taaaaccctc tctgccaaaa cctacactcc
     1801 actttaggcc cttcttgaag atgagcacaa tttttaaata ctgagcacaa tttttaaata
     1861 ctgacatcac ttcctcttcc ccctcccacc ccagctcagc agcctcaaat ctacagagaa
     1921 gaagaattat ggcatgaaca ttcccacaga cccaccatct ttaagacttg acctctgtaa
     1981 gtttaccaaa gggctcctca caattgtggt gggggttctg gttcaaaatt tggagcaaac
     2041 atgaagtttt tggaaacgtt ttctcatttg aagcctccag tatgctgtac tattctggaa
     2101 attaccttca agagtctcac ttcttgtttc tgttgtgttt tctgtgggca tcatgttctt
     2161 cacgcttgca gtagaaggtg ctttctcggt ttcccagagt atccaacggc tcacctttct
     2221 caagtgctgg cagtagctat gcactcacgg gctggtttgg gtcgctggtg cagcagcgca
     2281 aatctgttgc cttctgaatt tttctcacct aatgtgacac tggctacaat gaatcttctc
     2341 ttcatcgggc tgaatgaaag attcaagaac catcttcaag gtgcatggtg ggaattatca
     2401 acctcaggga tactcatttt aactcaggcg tgtcctgctt tgtaacattc cattgttggg
     2461 agagggcagg acaggtgtgt tcttctgtgg gcaggagtca tgtcactgtc ctacatatgt
     2521 aagagttggg aaggtgacga tttttgacac atccaggaac tcttactcta gttagaattt
     2581 gtaccagatc caaggtgaaa accccaataa gcaactgaat ttagagttta aaaatgaatg
     2641 actttatgct acatctgtgg ttatcaaatt atataggttg ttgagaagca gaacgctgtt
     2701 tgtagtaaga aatctttgtg gaaccccagt gtgtgaagta aattgtatgt tattaaattt
     2761 atttaaggtt aaa
//
LOCUS       NM_001010888            8269 bp    mRNA    linear   PRI 27-MAY-2023
DEFINITION  Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.
ACCESSION   NM_001010888
VERSION     NM_001010888.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8269)
  AUTHORS   Sowinska W, Wawro M, Biswas DD, Kochan J, Pustelny K, Solecka A,
            Gupta AS, Mockenhaupt K, Polak J, Kwinta B, Kordula T and Kasza A.
  TITLE     The homeostatic function of Regnase-2 restricts neuroinflammation
  JOURNAL   FASEB J 37 (3), e22798 (2023)
   PUBMED   36753401
  REMARK    GeneRIF: The homeostatic function of Regnase-2 restricts
            neuroinflammation.
REFERENCE   2  (bases 1 to 8269)
  AUTHORS   Luningham JM, Chen J, Tang S, De Jager PL, Bennett DA, Buchman AS
            and Yang J.
  TITLE     Bayesian Genome-wide TWAS Method to Leverage both cis- and
            trans-eQTL Information through Summary Statistics
  JOURNAL   Am J Hum Genet 107 (4), 714-726 (2020)
   PUBMED   32961112
  REMARK    GeneRIF: Bayesian Genome-wide TWAS Method to Leverage both cis- and
            trans-eQTL Information through Summary Statistics.
REFERENCE   3  (bases 1 to 8269)
  AUTHORS   Liang J, Wang J, Azfer A, Song W, Tromp G, Kolattukudy PE and Fu M.
  TITLE     A novel CCCH-zinc finger protein family regulates proinflammatory
            activation of macrophages
  JOURNAL   J Biol Chem 283 (10), 6337-6346 (2008)
   PUBMED   18178554
  REMARK    GeneRIF: MCPIP1, 2, 3, and 4, encoded by four genes, Zc3h12a,
            Zc3h12b, Zc3h12c, and Zc3h12d, respectively, regulates macrophage
            activation.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14372080.2632862.1 [ECO:0000332]
            RNAseq introns :: partial sample support SAMEA1968540, SAMEA2144120
            [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000338957.5/ ENSP00000340839.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355606.14, AL591202.8, AL441964.4, Z83841.1 and AL050306.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 21, 2021 this sequence version replaced NM_001010888.3.
            Summary: The protein encoded by this gene belongs to a family of
            CCCH-type zinc finger proteins that are involved in the
            proinflammatory activation of macrophages. The exact function of
            this family member is unknown, but it is thought to function as a
            ribonuclease. [provided by RefSeq, May 2010].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..8269
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq11.2-q12"
     gene            1..8269
                     /gene="ZC3H12B"
                     /gene_synonym="CXorf32; MCPIP2"
                     /note="zinc finger CCCH-type containing 12B"
                     /db_xref="GeneID:340554"
                     /db_xref="HGNC:HGNC:17407"
                     /db_xref="MIM:300889"
     misc_feature    1054..1056
                     /gene="ZC3H12B"
                     /gene_synonym="CXorf32; MCPIP2"
                     /note="upstream in-frame stop codon"
     CDS             1081..3591
                     /gene="ZC3H12B"
                     /gene_synonym="CXorf32; MCPIP2"
                     /note="MCP-induced protein 2; zinc finger CCCH
                     domain-containing protein 12B"
                     /codon_start=1
                     /product="probable ribonuclease ZC3H12B"
                     /protein_id="NP_001010888.3"
                     /db_xref="CCDS:CCDS48131.2"
                     /db_xref="GeneID:340554"
                     /db_xref="HGNC:HGNC:17407"
                     /db_xref="MIM:300889"
                     /translation="MTATAEVETPKMEKSASKEEKQQPKQDSTEQGNADSEEWMSSESD
                     PEQISLKSSDNSKSCQPRDGQLKKKEMHSKPHRQLCRSPCLDRPSFSQSSILQDGKLDL
                     EKEYQAKMEFALKLGYAEEQIQSVLNKLGPESLINDVLAELVRLGNKGDSEGQINLSLL
                     VPRGPSSREIASPELSLEDEIDNSDNLRPVVIDGSNVAMSHGNKEEFSCRGIQLAVDWF
                     LDKGHKDITVFVPAWRKEQSRPDAPITDQDILRKLEKEKILVFTPSRRVQGRRVVCYDD
                     RFIVKLAFDSDGIIVSNDNYRDLQVEKPEWKKFIEERLLMYSFVNDKFMPPDDPLGRHG
                     PSLENFLRKRPIVPEHKKQPCPYGKKCTYGHKCKYYHPERANQPQRSVADELRISAKLS
                     TVKTMSEGTLAKCGTGMSSAKGEITSEVKRVAPKRQSDPSIRSVAMEPEEWLSIARKPE
                     ASSVPSLVTALSVPTIPPPKSHAVGALNTRSASSPVPGSSHFPHQKASLEHMASMQYPP
                     ILVTNSHGTPISYAEQYPKFESMGDHGYYSMLGDFSKLNINSMHNREYYMAEVDRGVYA
                     RNPNLCSDSRVSHTRNDNYSSYNNVYLAVADTHPEGNLKLHRSASQNRLQPFPHGYHEA
                     LTRVQSYGPEDSKQGPHKQSVPHLALHAQHPSTGTRSSCPADYPMPPNIHPGATPQPGR
                     ALVMTRMDSISDSRLYESNPVRQRRPPLCREQHASWDPLPCTTDSYGYHSYPLSNSLMQ
                     PCYEPVMVRSVPEKMEQLWRNPWVGMCNDSREHMIPEHQYQTYKNLCNIFPSNIVLAVM
                     EKNPHTADAQQLAALIVAKLRAAR"
     misc_feature    1081..1356
                     /gene="ZC3H12B"
                     /gene_synonym="CXorf32; MCPIP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYM0.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      8246..8251
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZC3H12B"
                     /gene_synonym="CXorf32; MCPIP2"
                     /note="hexamer: CATAAA"
     polyA_site      8269
                     /gene="ZC3H12B"
                     /gene_synonym="CXorf32; MCPIP2"
                     /note="major polyA site"
ORIGIN
        1 agaggcgcca gaggaggagg agcaggagga tgcagctgcg accgcggccc caagagggag
       61 ccgccgctgc tctgtggcca ggggggccca gggactggaa tcaggcctgg gggtcgcatc
      121 gctgagggga ctggtaacgg cggtccctcc agaggctcag gcctagtacc ccaggagggt
      181 ccgggccgct gggcgagcgc cttcccccca tcgcctcccc tcgtccctcc acgtcgatgg
      241 tggtgaagtt ggcggcgcca cggagcgcaa ggcaccaagc tgtctccctt gcacccagct
      301 cctctctggc cccggctgtt ggacacctgc gccgccgcct tctctcgccc gccgagccca
      361 ccccctgcgg cgggcggggg aggggctccc ccctgcaggg gctgcgtcga gcagggcgac
      421 gacggggacc ataggagagt aggggaagaa gccaagaatt gggagttttc tgctgatgat
      481 gctatgctaa gctgggcaga gagaccatgg cgagaaatag actaaatagc caagttgcaa
      541 gataccactg cttcttttaa gagtgatggg tttcccaggt gatacttgaa agaagagata
      601 acgaccacct atctccttca tcctggttac acaggaaggt aggctatgga ctccttttgg
      661 catttctgcc tcagcaacag aggataaaag tcatgttgtg atggataagt cacaaaagta
      721 aaaaatacag acgtggacta caggcctcca aagaagaatt gagcatgctg aggatcgatg
      781 ccagacattg gacatttttg aggtgttaag agatgtgcat gcttccaaca ttgtgaagat
      841 gtgtgtgctt tccagtcacc ttccaccatg actgtaagtt ttctgaggct gcccagtcat
      901 gcttcctgtt aagcctgcag aactggactg ataacatctg aacataccaa accacacagt
      961 caaactcttg caccatcgct accacgacat tttactacaa aagaatgcca ctgcatgtgg
     1021 attccaagca ggctaaaaag aaaaagaact gattagacct cagacgaccc actaaacggg
     1081 atgacggcca cagctgaggt agagacacca aaaatggaga agagtgcctc caaggaagag
     1141 aagcagcagc ctaagcagga cagcacagag cagggcaatg ctgattctga agagtggatg
     1201 agctctgaga gtgaccctga acagataagc cttaagagta gcgacaacag caagagctgc
     1261 caacctaggg atggtcagtt gaagaaaaag gagatgcact ccaagccaca ccgccagctc
     1321 tgtcgatcac cctgcctaga tcgtccaagt ttctcccaga gcagcatttt acaggatggt
     1381 aaacttgact tggagaagga ataccaagct aagatggagt ttgcgctaaa gctgggctat
     1441 gcagaggaac agattcaatc agtgctaaac aagctgggcc cagaatcact tattaatgat
     1501 gtattggcag agcttgtcag acttgggaac aaaggtgatt cagaagggca gatcaacttg
     1561 agtctgttag tgcctcgtgg gcccagctcc agagagattg caagccctga attgtctctt
     1621 gaagatgaaa tagataacag tgacaatttg aggccagttg tcattgatgg aagtaatgtg
     1681 gcaatgagcc atgggaataa agaagaattc tcctgcagag gaatacaact tgctgtggat
     1741 tggtttctag ataaaggcca taaagatatt actgtatttg tgcctgcatg gagaaaggag
     1801 caatcccgcc ctgatgcacc aattacagat caagatattc tacgaaaact ggagaaggaa
     1861 aagattcttg tcttcacacc atcccgaaga gtccaaggca ggagggttgt ctgctatgat
     1921 gaccggttca tagtcaaact ggcttttgat tctgatggca tcattgtgtc caatgataac
     1981 taccgagacc ttcaagttga aaagccagaa tggaagaagt ttatagagga gcggttgctg
     2041 atgtattctt ttgtgaatga caaatttatg cctccagatg atccattagg acgccacggc
     2101 ccaagccttg aaaatttctt aagaaagaga cccattgttc ctgagcataa gaagcaacca
     2161 tgtccttatg gcaaaaaatg cacctacggc cacaagtgca aatactacca tccggagcgg
     2221 gccaaccaac cccagcgttc ggtggctgat gagctccgca tcagtgccaa actgtccaca
     2281 gtgaaaacta tgagtgaagg caccctggcc aagtgtggca cagggatgtc tagtgccaaa
     2341 ggtgagataa cctcagaggt caaacgtgtg gcccccaagc gccaatcaga tcccagcatc
     2401 cggtctgtgg ctatggagcc tgaggaatgg ctgtccattg cccgtaagcc tgaggctagt
     2461 tctgtcccct cgcttgtgac tgccctaagt gttcccacaa tcccaccccc caaaagccat
     2521 gcagtgggtg cactcaacac ccgttcggcc agcagcccag tgccaggatc ctcccatttc
     2581 ccccaccaga aggcctcttt ggagcatatg gccagcatgc agtatcctcc catcttggtt
     2641 accaacagcc atgggacccc tattagctat gctgagcaat acccaaagtt tgaatccatg
     2701 ggggaccatg gctactattc aatgttaggt gacttctcca aactgaacat caacagcatg
     2761 cataaccgag agtattacat ggctgaagta gaccgggggg tgtatgcccg gaatcctaac
     2821 ctctgttctg acagccgtgt gagccatacc aggaatgaca actattcctc ttacaacaac
     2881 gtgtatttgg ctgtagctga tacccatcct gaaggcaatt tgaagctgca ccgctcagca
     2941 tcccagaacc gacttcagcc ttttcctcat ggttaccatg aagccttaac acgagtgcag
     3001 agctatggcc cagaggattc taagcaaggc ccccacaaac agtcagtccc ccacttagct
     3061 ctgcatgccc agcacccatc aactggaaca cgttccagct gtcctgcaga ctaccccatg
     3121 cctcccaata tccatcctgg ggcaaccccc cagccaggcc gtgccctggt gatgactcgg
     3181 atggatagca tttccgactc ccgcctctat gagagcaacc ccgtgaggca aagacgacct
     3241 cccctgtgcc gggaacagca tgccagctgg gacccgctgc cctgtacaac tgactcctat
     3301 ggctaccact cctatccctt gagtaacagc ctcatgcaac catgttatga gccagtcatg
     3361 gtacggagcg tgcctgaaaa gatggagcag ctttggagga atccttgggt tggaatgtgc
     3421 aatgattcca gggagcatat gatcccagaa caccagtatc agacctacaa gaacctctgc
     3481 aatattttcc cttctaacat cgtccttgca gtgatggaga agaatcccca cacagcagat
     3541 gcccagcaac tggcagcctt gattgttgct aagcttaggg ctgcacgttg atatgacata
     3601 gtacttattt ctttatacaa atatgaatat taatactaat aatacactaa tacaataatt
     3661 atagtaacta ataatttgtg ttgcgcttta caagttagag tgtttatatc atttaagcgc
     3721 ttaacaaccc tgtgaggtac gtcttactaa catcctcttt tatagagaag gaaggtgaag
     3781 gtcagtgaaa ttaagtggct agccagggtc acactgctag caaatgacta agtcaagaca
     3841 cacacccaag tcctctaaat ccaagtccca tgcccctttg cactgcacca tgcaggtaat
     3901 ggaggacaaa acccaggggg agaggtctag atgtaagaaa tcccagagga ttccattacc
     3961 agagttttcc tttttctctt ttcgtttctt tctttctttc tttatttttt ttttttgaga
     4021 cagaatctca ctctgttaca caggctggag tgcagtggca ctatctctgc tcactgcaac
     4081 ctccacctcc agggttcaag tgattctatg gcctcagcct cccaggtagc tgggattaca
     4141 ggcgtgcacc accatgccca gctaattttt gtatttttag tagagacgtg gtttcaccgt
     4201 gttggccagg ctggtctcaa actcctggcc tcaagtgatc cgcccacctt ggcctcctaa
     4261 agtgctggga ttacaggtgt gagccactgc gcccagccta ccagagtttt cgtagtcaca
     4321 tattctatat tacaaagtat ggatgatata tccaatttag agagcaaaag catcaggatc
     4381 agatcatatg ttgaattaac cttttaggtt ttttctaata gaaatattta aagctattta
     4441 aaagtaaatg catactttat tgcatggata tctgatcact caatctatat taatgaaact
     4501 atagggtcac attgaagctt ctagaactat attttaaagc tattattagc aattatattg
     4561 catgtatgaa tatatatatt tggtttgaga tgtgtgtgta tctctgtata accttttata
     4621 tagtgataat gagagggtag gctctacaca gtccttcgtc tatagctgta taggtcacta
     4681 atctgacttg atgattttaa gtcacatttc atagttttaa ctagttatga gagagaaatt
     4741 atatggcaat atttgaacat tgctttctta ggcaccagag caaagcaact ctgtttcctt
     4801 tgcacatttt acctgccaac atttattaac agttcttacc ttccaagtct cttcacctta
     4861 gcaaattagg gatcaggttg cagtcttctg cagagaaact gatggttaag ctcaagttcc
     4921 aagcatagta tgtgtgtgct acacaagctc agaagagttt gacaaggacc aggggactta
     4981 ctaccacaat ccacttccct tatcccagga gagatggcca aacccatgtg gcattaaatg
     5041 gtgaataaaa aagcttcact caaggaggga ctattggatg ctctttggac ttctgaccta
     5101 tgcagtattc aacatcattg gatgaaatgt aatggaggac agtgcacagc catgtatcca
     5161 ctttctcttc ctgtccaccc tttgggtaat aaggtcaatc attggtggaa cagaatttct
     5221 ctaggaaaca aaaccagggg attttatttg tggaaaaagg aagtttccaa aaggggatac
     5281 tgcatcttta ctaatagctg gctcagttac tcactttaaa tccatgcaaa gagtgcactt
     5341 gctgttaaat aattgttaaa tgagttatta gaaggcagga cttttggttt gggcgacacc
     5401 atttgcgcaa cttgtatctt gctcagggtg gaaaacttca tagctaaatg cctctagaag
     5461 aggtgtttat tgtttttttt aagctgcact aaatgaattc cctttttgaa tccattgtat
     5521 atttcaatat ttcgaaccat gatcagctca ctatttcctg agctggaact tgctaacttc
     5581 tatgatcgtt ttttcatgaa agttgagaag gccgggcctt ggccttttgt ttcttcatga
     5641 gaaggtgtga cactgcctat aaatgtttct tactgtgaaa cactctgaat gtgaggctgt
     5701 agtcagggtt gtttctggtg gtttgacaat ggcttgcatg ctgctttctg gctttctgtc
     5761 tctgtccaag ttgatcaata ctgcatctta accaatgttt cacttgagtt aaccacagct
     5821 ttacattcta tctcctatct tctgatcttc gtatacccca gcatattgaa aaagagtaaa
     5881 agtattttct atcaatcagg tagatccaca gagtgacagt tgccactgca gtgcttgcta
     5941 tttcacacaa acaccatttc ataccttcaa cttcttggac tttctaaatc ggactcgtgt
     6001 ctaaatcagg gtatttgaca atctcagatg atgctactgc ctatgtgcca gttagttcat
     6061 cttcctacca agatcatgaa tggcaccaca ctatccacta gctgtacaat ttacagagaa
     6121 gcacaagatt catcttgtca cctacaattc gtcttgaaca tgttcatatt tagtactcag
     6181 aaactgtgta agctcctccc aatacagaaa atatttttta aggcagcata tgtatttctg
     6241 atttactaaa aacgattgtc attctcctct cattcttctt tttggtatga accaaaagcg
     6301 gctaggagca atgcctcaaa taaccagaaa tgaccttttg ttgatacaaa ttgtatctct
     6361 ttttttcctg attgtataga aacaaatgta caaaactcat ctgaagctag gtttggcact
     6421 gaattttcac catgaggttt gtggcactgt gtgtcacagg gaagtagctc aggggttgtg
     6481 agggagcttt tatttctaaa gggcagtagt aatttataga caaaaacaat ttttcaaggc
     6541 ctctttatta ccactgcaca gctatcatgt gtaaaatttc aagcattata ttgcataagt
     6601 tctctttagc ctattaaatt taatatgtcc ttgcaaaagg gattttgtgt aaaaagtgtc
     6661 agtgttagtg actcatctgc aagaatctac aaatggagct atacaactat gaatacataa
     6721 atacagcatg gttcctagtt attagagaaa cattttcttt atattgaggt ctacgcactt
     6781 cttgactttc cattttgtct gtaattataa aacagcaaat aacaaagaag cattgggacc
     6841 ccctcggctg ccttgataat aaaatcaagc ttccttcatg ggactaagca tgtgtccttc
     6901 aggatactta cctctaagca ctcagcaggg gttactacaa agcgttttgt gtggttttca
     6961 aaaaacagtg tattttgcaa gaggtgcttt gtaattttaa ttatttcact gattttctga
     7021 cctcatagga agtctgtgcc tgttgaggcc ttcaattttg tagcttttct gatttttttt
     7081 cttctttttg tgattttgtt gttgttttca ttttgatcta aaggagaagt gtgaccccgg
     7141 agtggcatgg tcaatccagg gcaccctttc tgtaagacaa ctcaaaggaa aagaagcctt
     7201 ttcaaaggta atatcgagcc attgcactct ctcttaaggt gccaggtatg ggagaatgac
     7261 agatgcctta tggaaatggt ctacaaaact tttcttcttc taagtaataa aacacatagc
     7321 atgattctct ctccctctct ctctctctct ctgcccaccc cctgctagtt tccaggagaa
     7381 tacttctcta aaattcattt ttttctattt tggaataaat tatctttata cagtaattca
     7441 aacactgatt tccattaacc tttggccctg agttttcttc taacatagaa gagttcattt
     7501 tgagaggcac tcagttacca ttcaatctgt gctgtaagta tgggactttg tacaaatgcc
     7561 ctttttgagg gccaaaaatt tcaatacact ttgttctact ttgtgaacca ggtctggatc
     7621 tgcacagaga aagtaatgct gagctgtcca aagagtccgc tcaggtctcc ctcctaaccc
     7681 tcctctgcct tcccctagtt tgcttatcct cacgtctgac actgaggagt gcatagtctt
     7741 caactgaaat ggcactacag ttagttctca ttggaaacaa acaagtgtat ttctggaacc
     7801 tgctcgtcta aaatagtcaa tgcctttgta aagactcagc atattcaata tctattgtat
     7861 ggtagctagc tatatacata gattgactat ttttagtcct ggtttgtgta ttgttgagct
     7921 atagtagttt gctttatcca tttgtgggat taaacaatac tgtttaatgg ttgtaaactt
     7981 ttataaaatc tctttgggtt ttttgtttga cccaaacata atgtaagtct taatgacaaa
     8041 atacacaaag ttaaccagag gtgagtgaaa atatagccct tccccagttt tgtctgcccc
     8101 tataatgcac gtgcattgct ttgtaatatg ctctcgctag catgaatgtg ctatgactac
     8161 ttcatgaggt tttgtttcac ctataattgt gatggaaaat gctgtattgc tgacaacaat
     8221 gaactgtaac cacagttatt tactgcataa actatttgtg tactaacca
//
LOCUS       NM_001010889            1720 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens PRAME family member 6 (PRAMEF6), mRNA.
ACCESSION   NM_001010889
VERSION     NM_001010889.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1720)
  AUTHORS   Lin HC, Ho SC, Chen YY, Khoo KH, Hsu PH and Yen HC.
  TITLE     SELENOPROTEINS. CRL2 aids elimination of truncated selenoproteins
            produced by failed UGA/Sec decoding
  JOURNAL   Science 349 (6243), 91-95 (2015)
   PUBMED   26138980
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC101342.2 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000376189.5/ ENSP00000365360.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC101342.2 and AL358783.7.
            On Mar 8, 2007 this sequence version replaced NM_001010889.1.
FEATURES             Location/Qualifiers
     source          1..1720
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..1720
                     /gene="PRAMEF6"
                     /note="PRAME family member 6"
                     /db_xref="GeneID:440561"
                     /db_xref="HGNC:HGNC:30583"
     CDS             87..1517
                     /gene="PRAMEF6"
                     /codon_start=1
                     /product="PRAME family member 6"
                     /protein_id="NP_001010889.1"
                     /db_xref="CCDS:CCDS30594.1"
                     /db_xref="GeneID:440561"
                     /db_xref="HGNC:HGNC:30583"
                     /translation="MSIRTPPRLLELAGRSLLRDQALAMSTLEELPTELFPPLFMEAFS
                     RRRCEALKLMVQAWPFRRLPLRPLIKMPCLEAFQAVLDGLDALLTQGVHPRRWKLQVLD
                     LQDVCENFWMVWSEAMARGCFLNAKRNKTPVQDCPRMRGQQPLTVFVELWLKNRTLDEY
                     LTCLLLWVKQRKDLLHLCCKKLKILGMPFRNIRSILKMVNLDCIQEVEVNCKWVLPILT
                     QFTPYLGHMRNLQKLVLSHMDVSRYVSPEQKKEIVTQFTTQFLKLCCLQKLSMNSVSFL
                     EGHLDQLLSCLKTSLKVLTITNCVLLESDLKHLSQCPSISQLKTLDLSGIRLTNYSLVP
                     LQILLEKVAATLEYLDLDDCGIIDSQVNAILPALSRCFELNTFSFCGNPISMATLENLL
                     SHTIILKNLCVELYPAPRESYDADGTLCWSRFAQIRAELMKRVRDLRHPKRILFCTDCC
                     PDCGNRSFYDLEADQCCC"
     misc_feature    375..458
                     /gene="PRAMEF6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1);
                     Region: LRR 1, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    621..695
                     /gene="PRAMEF6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1);
                     Region: LRR 2, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    696..776
                     /gene="PRAMEF6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1);
                     Region: LRR 3, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    777..884
                     /gene="PRAMEF6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1);
                     Region: LRR 4, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    885..962
                     /gene="PRAMEF6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1);
                     Region: LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    963..1058
                     /gene="PRAMEF6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1);
                     Region: LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1059..1121
                     /gene="PRAMEF6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1);
                     Region: LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1131..1214
                     /gene="PRAMEF6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1);
                     Region: LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1215..1289
                     /gene="PRAMEF6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1);
                     Region: LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
ORIGIN
        1 agcctggagt tcctgcttgg ttcttcctga ggactgagca ccttctagac tacatccaga
       61 tctgttttcc ctgcagattc gtgaagatga gcatccggac tccacccaga ctcctggagc
      121 ttgcagggcg gagcctgctg agggaccaag ccttggccat gtccaccctg gaggagctgc
      181 ccacagaact tttcccccca ctgttcatgg aggccttcag caggagacgc tgtgaggccc
      241 tgaagctgat ggtgcaggcc tggcccttcc gccgcctccc tctgaggcct ctgataaaga
      301 tgccttgtct ggaggccttc caagctgtgc tcgatgggct ggatgcactg cttacccaag
      361 gggttcatcc caggaggtgg aaacttcaag tgctggattt acaggatgtc tgtgagaact
      421 tctggatggt ttggtctgaa gctatggccc gtgggtgctt cctcaatgcc aagaggaaca
      481 aaacaccagt gcaggactgt ccaaggatga gaggacagca gcccttgact gtgttcgtag
      541 aactttggct caagaacagg actctggatg aatacctcac ctgcctcctt ctatgggtca
      601 agcagaggaa agatttacta cacctgtgct gtaagaagct gaaaattttg ggaatgccct
      661 tccgcaatat cagaagcatc ctgaaaatgg tgaacctaga ctgtatccag gaggtggaag
      721 tgaattgcaa gtgggtactg cccatcctga cacagtttac cccatacctg ggccacatga
      781 ggaatcttca gaagctcgtt ctctcccaca tggatgtctc tcgctacgtt tccccagagc
      841 agaagaagga gattgttacc cagttcacca ctcagttcct caagctgtgc tgcctccaaa
      901 agctttctat gaactctgtt tctttcctcg aaggccacct ggaccagctg ctcagctgtc
      961 tgaagacctc gttaaaggtc ctcacaataa ctaactgtgt gcttttggaa tcagacttga
     1021 agcatctatc ccagtgcccg agtatcagtc aactaaagac cctggacctg agtggcatca
     1081 gactgaccaa ttacagtctt gtgcctctcc aaattctcct agaaaaagtt gcagccaccc
     1141 ttgagtacct ggatttagat gactgtggca tcatagactc ccaagtcaac gccatcctgc
     1201 ctgccctgag ccgctgcttt gagctcaaca ccttcagctt ctgtggaaat cccatctcca
     1261 tggccaccct ggagaacctg ctgagccaca caatcatact caaaaactta tgcgtggagc
     1321 tgtatcctgc cccccgggag agttatgatg ctgatggtac tctctgctgg agcagatttg
     1381 ctcaaattag ggctgagctg atgaagagag tgagggactt aaggcacccc aagaggatct
     1441 tgttctgtac tgactgctgc cctgactgtg gcaacaggtc attttatgac ctggaggcag
     1501 atcaatgctg ctgttgaatg cctgcctatt tgggtggata tgtcaaacgc tttcttctgg
     1561 acacttggaa actaaaacct aggtcttagg tacatcctat agggagcaca gaacccatca
     1621 tttcacacat gggctctgaa agtgggaaag ggaaggtgat caagcagggg caggacttgg
     1681 gggaagtgtt gccatggatt cgatgggact ttggggacct
//
LOCUS       NM_001010890            2465 bp    mRNA    linear   PRI 23-DEC-2022
DEFINITION  Homo sapiens PRAME family member 9 (PRAMEF9), mRNA.
ACCESSION   NM_001010890
VERSION     NM_001010890.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2465)
  AUTHORS   Lin HC, Ho SC, Chen YY, Khoo KH, Hsu PH and Yen HC.
  TITLE     SELENOPROTEINS. CRL2 aids elimination of truncated selenoproteins
            produced by failed UGA/Sec decoding
  JOURNAL   Science 349 (6243), 91-95 (2015)
   PUBMED   26138980
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA2151119 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000415919.3/ ENSP00000485258.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            INFERRED REFSEQ: This record is predicted by genome sequence
            analysis and is not yet supported by experimental evidence. The
            reference sequence was derived from AC245056.3.
            On Aug 13, 2020 this sequence version replaced NM_001010890.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2465
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..2465
                     /gene="PRAMEF9"
                     /note="PRAME family member 9"
                     /db_xref="GeneID:343070"
                     /db_xref="HGNC:HGNC:27996"
     misc_feature    564..566
                     /gene="PRAMEF9"
                     /note="upstream in-frame stop codon"
     CDS             702..2138
                     /gene="PRAMEF9"
                     /note="PRAME family member 9/15"
                     /codon_start=1
                     /product="PRAME family member 9"
                     /protein_id="NP_001010890.2"
                     /db_xref="CCDS:CCDS76108.1"
                     /db_xref="GeneID:343070"
                     /db_xref="HGNC:HGNC:27996"
                     /translation="MKMSIRTPPRLLELAGRSLLRDQALAMSTLEELPTELFPPLFMEA
                     FSRRRCEALKLMVQAWPFRRLPLRPLIKMPCLEAFQAVLDGLDALLTQGVCPRRWKLQV
                     LDLQDVCENFWMVWSEAMARGSFLNAKRNKTPVQDCPRMRGQQPLTVFVELWLKNRTLD
                     EYLTYLLLWVKQRKDLLHLCCKKLKILGMPFRNIRSILKMVNLDCIQEVEVNCKWVLPI
                     LTQFTPYLGHMRNLQKLVLSHMDVSRYVSPEQKKEIVTQFTTQFLKLHCLQKLYMNSVS
                     FLEGHLDQLLSCLKTSLKVLTITNCVLLESDLKHLSQCPSISQLKTLDLSGIRLTNYSL
                     VPLQILLEKVAATLEYLDLDDCGIIDSQVNAILPALSRCFELNAFSFCGNPISMATLEN
                     LLSHTIILKNLCVEVYPAPRESYGADGTLCWSRFAQIRAELMNRVRDLRHPKRIFFCID
                     NCPDCGNRSFYDLEADQYCC"
ORIGIN
        1 tgtagttctc tctctctctt ttttcttttt cttttttttt tttttttttt ttaaatctag
       61 cctatttccc aggctggagt tcagtggtgt attgtcagct cactgcaacc tctgcctcct
      121 gggttcaagg gatcctcctg tctcagcctc cctagtagcc tggactatag gcgcagacca
      181 ccgcaactgg ctaatttttg taattttagt agaggtaggg ttttaccatg ttggccaggc
      241 ttgtctcaaa ctcctgacct cagataatcc acctgcctct gcctcccaca gtgctgggat
      301 tacaggtgtg agccacttcg tctggccttg aatgaatgta ttcttgactt ctaccctatc
      361 cctaacactg tcaatttctt gcttcgtgaa gtgaatatag atatgtgata tgaatggaca
      421 tctgattcaa tccattaatc tggggagagc caaaaaccca atcaggatta cctgggtgga
      481 gtggagcttc acaaatgcaa tcagatatca ttttttgatt ggaagctagc agcggatacg
      541 tggaggggcg tgggtgggag ttatgattag aaaggtcaat aaaagcttct aaagacccac
      601 aggagagacc caaagtcttc aagcctggag ttcctgcttg gttcttcctg aggtctgagc
      661 accttctaaa ctacatccag atctgttttc cctgcagatt catgaagatg agcatccgga
      721 ctccacccag actcctggag ctggcggggc ggagcctgct gagggaccaa gccttggcca
      781 tgtccaccct ggaggagctg cccacagaac ttttcccccc actgttcatg gaggccttca
      841 gcaggagacg ctgtgaggcc ctgaagctga tggtgcaggc ctggcccttc cgccgcctcc
      901 ctctgaggcc tctgataaag atgccttgtc tggaggcctt ccaagctgtg ctcgatgggc
      961 tggatgcact gcttacccaa ggggtttgtc ccaggaggtg gaaacttcaa gtgctggatt
     1021 tacaggatgt ctgtgagaac ttctggatgg tttggtctga agctatggcc cgtgggtcct
     1081 tcctcaatgc caagaggaac aaaacaccag tgcaggactg tccaaggatg agaggacagc
     1141 agcccttgac tgtgttcgta gaactttggc tcaagaacag gactctggat gaatacctca
     1201 cctacctcct tctatgggtc aagcagagga aagatttact acacctgtgc tgtaagaagc
     1261 tgaaaatttt gggaatgccc ttccgcaata tcagaagcat cctgaaaatg gtgaacctag
     1321 actgtatcca ggaggtggaa gtgaattgca agtgggtact gcccatcctg acacagttta
     1381 ccccatacct gggccacatg aggaatcttc agaagctcgt tctctcccac atggatgtct
     1441 ctcgctacgt ttccccagag cagaagaagg agattgttac ccagttcacc actcagttcc
     1501 tcaagctgca ctgcctccaa aagctttata tgaactctgt ttctttcctc gaaggccacc
     1561 tggaccagct gctcagctgt ctgaagacct cgttaaaggt cctcacaata actaactgtg
     1621 tgcttttgga atcagacttg aagcatctat cccagtgccc gagtatcagt caactaaaga
     1681 ccctggacct gagtggcatc agactgacca attacagtct tgtgcctctc caaattctcc
     1741 tagaaaaagt tgcagccacc cttgagtact tggatttaga tgactgtggc atcatagact
     1801 cccaagtcaa cgccatcctg cctgccctga gccgctgctt tgagctcaat gccttcagct
     1861 tctgtggaaa tcccatctcc atggccaccc tggagaacct gctgagccac acaatcatac
     1921 tcaaaaactt atgcgtggag gtgtatcctg ccccgcggga gagttatggt gctgatggta
     1981 ctctctgctg gagcagattt gctcaaatta gggctgagct gatgaacaga gtgagggact
     2041 taaggcaccc caagaggatc tttttctgta ttgacaactg ccctgactgt ggcaacaggt
     2101 cattttatga cctggaggca gatcaatact gctgttgaat gcctgcctat ttggatgggt
     2161 atgtcaaacg ctttcttctg gacacttgga aactaaaacc taggtcttag gtacatccta
     2221 aagggagcac agaacccatc atttcacaca taggctctga aagtgggaaa ggaaagctga
     2281 tcaagcaggg gcaggacttg ggggaaatgt tgccatggat tcgatgggac tttggggacc
     2341 tgtatcctgt agagtcgaaa atgggaatct gaatgtctag agtggaattc aggcttgaga
     2401 atacatgagg gagttactct tgcatggatg gttgtaaaga aacaatcaga aataaaggaa
     2461 aactg
//
LOCUS       NM_001010892            2840 bp    mRNA    linear   PRI 13-MAR-2023
DEFINITION  Homo sapiens radial spoke head component 4A (RSPH4A), transcript
            variant 1, mRNA.
ACCESSION   NM_001010892
VERSION     NM_001010892.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2840)
  AUTHORS   De Jesus-Rojas W, Melendez-Montanez J, Muniz-Hernandez J,
            Marra-Nazario A, Alvarado-Huerta F, Santos-Lopez A, Ramos-Benitez MJ
            and Mosquera RA.
  TITLE     The RSPH4A Gene in Primary Ciliary Dyskinesia
  JOURNAL   Int J Mol Sci 24 (3), 1936 (2023)
   PUBMED   36768259
  REMARK    GeneRIF: The RSPH4A Gene in Primary Ciliary Dyskinesia. Review
            article Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2840)
  AUTHORS   Zhao Y, Pinskey J, Lin J, Yin W, Sears PR, Daniels LA, Zariwala MA,
            Knowles MR, Ostrowski LE and Nicastro D.
  TITLE     Structural insights into the cause of human RSPH4A primary ciliary
            dyskinesia
  JOURNAL   Mol Biol Cell 32 (12), 1202-1209 (2021)
   PUBMED   33852348
  REMARK    GeneRIF: Structural insights into the cause of human RSPH4A primary
            ciliary dyskinesia.
REFERENCE   3  (bases 1 to 2840)
  AUTHORS   Takeuchi K, Kitano M, Kiyotoshi H, Ikegami K, Ogawa S, Ikejiri M,
            Nagao M, Fujisawa T and Nakatani K.
  TITLE     A targeted next-generation sequencing panel reveals novel mutations
            in Japanese patients with primary ciliary dyskinesia
  JOURNAL   Auris Nasus Larynx 45 (3), 585-591 (2018)
   PUBMED   28939216
  REMARK    GeneRIF: A novel mutation causing primary ciliary dyskinesia was
            found in Japanese patients.
REFERENCE   4  (bases 1 to 2840)
  AUTHORS   Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner
            C, Wallmeier J, Grosse-Onnebrink J, Olbrich H, Cindric S, Jaspers M,
            Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK,
            Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K and
            Omran H.
  TITLE     Immunofluorescence Analysis and Diagnosis of Primary Ciliary
            Dyskinesia with Radial Spoke Defects
  JOURNAL   Am J Respir Cell Mol Biol 53 (4), 563-573 (2015)
   PUBMED   25789548
  REMARK    GeneRIF: Absence of RSPH4A due to mutations in RSPH4A results in
            deficient axonemal assembly of the RS head components RSPH1 and
            RSPH9.
REFERENCE   5  (bases 1 to 2840)
  AUTHORS   Daniels ML, Leigh MW, Davis SD, Armstrong MC, Carson JL, Hazucha M,
            Dell SD, Eriksson M, Collins FS, Knowles MR and Zariwala MA.
  TITLE     Founder mutation in RSPH4A identified in patients of Hispanic
            descent with primary ciliary dyskinesia
  JOURNAL   Hum Mutat 34 (10), 1352-1356 (2013)
   PUBMED   23798057
  REMARK    GeneRIF: the c.921+3_6delAAGT splice site mutation in RSPH4A is a
            founder mutation that is a common cause of PCD without situs
            abnormalities in patients of Hispanic Puerto Rican descent.
REFERENCE   6  (bases 1 to 2840)
  AUTHORS   Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A,
            Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P,
            Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE,
            Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A,
            Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD,
            Chung EM, Shoemark A, Knowles MR, Omran H and Mitchison HM.
  CONSRTM   Uk10k
  TITLE     Mutations in CCDC39 and CCDC40 are the major cause of primary
            ciliary dyskinesia with axonemal disorganization and absent inner
            dynein arms
  JOURNAL   Hum Mutat 34 (3), 462-472 (2013)
   PUBMED   23255504
REFERENCE   7  (bases 1 to 2840)
  AUTHORS   Zietkiewicz E, Bukowy-Bieryllo Z, Voelkel K, Klimek B, Dmenska H,
            Pogorzelski A, Sulikowska-Rowinska A, Rutkiewicz E and Witt M.
  TITLE     Mutations in radial spoke head genes and ultrastructural cilia
            defects in East-European cohort of primary ciliary dyskinesia
            patients
  JOURNAL   PLoS One 7 (3), e33667 (2012)
   PUBMED   22448264
  REMARK    GeneRIF: Mutations in RSPH4A leads to ultrastructural cilia defects
            and ciliary dyskinesia.
REFERENCE   8  (bases 1 to 2840)
  AUTHORS   Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker
            KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA,
            Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner
            RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM and
            Mitchison HM.
  TITLE     Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause
            primary ciliary dyskinesia with central-microtubular-pair
            abnormalities
  JOURNAL   Am J Hum Genet 84 (2), 197-209 (2009)
   PUBMED   19200523
REFERENCE   9  (bases 1 to 2840)
  AUTHORS   Zariwala,M.A., Knowles,M.R. and Leigh,M.W.
  TITLE     Primary Ciliary Dyskinesia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301301
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK299754.1, SRR1803613.165504.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000229554.10/ ENSP00000229554.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK299754.1, AK095293.1 and
            CB851663.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001010892.2.
            Summary: This gene encodes a protein that appears to be a component
            the radial spoke head, as determined by homology to similar
            proteins in the biflagellate alga Chlamydomonas reinhardtii and
            other ciliates. Radial spokes, which are regularly spaced along
            cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and
            a bulbous 'head' that form a signal transduction scaffold between
            the central pair of microtubules and dynein. Mutations in this gene
            cause primary ciliary dyskinesia 1, a disease arising from
            dysmotility of motile cilia and sperm. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Sep 2009].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2840
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.1"
     gene            1..2840
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /note="radial spoke head component 4A"
                     /db_xref="GeneID:345895"
                     /db_xref="HGNC:HGNC:21558"
                     /db_xref="MIM:612647"
     misc_feature    134..136
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /note="upstream in-frame stop codon"
     CDS             146..2296
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /note="isoform 1 is encoded by transcript variant 1; radial
                     spokehead-like 3; radial spoke head protein 4 homolog A;
                     radial spoke head-like protein 3; radial spoke head 4
                     homolog A"
                     /codon_start=1
                     /product="radial spoke head protein 4 homolog A isoform 1"
                     /protein_id="NP_001010892.1"
                     /db_xref="CCDS:CCDS34521.1"
                     /db_xref="GeneID:345895"
                     /db_xref="HGNC:HGNC:21558"
                     /db_xref="MIM:612647"
                     /translation="MEDSTSPKQEKENQEELGETRRPWEGKTAASPQYSEPESSEPLEA
                     KQGPETGRQSRSSRPWSPQSRAKTPLGGPAGPETSSPAPVSPREPSSSPSPLAPARQDL
                     AAPPQSDRTTSVIPEAGTPYPDPLEQSSDKRESTPHHTSQSEGNTFQQSQQPKPHLCGR
                     RDVSYNNAKQKELRFDVFQEEDSNSDYDLQQPAPGGSEVAPSMLEITIQNAKAYLLKTS
                     SNSGFNLYDHLSNMLTKILNERPENAVDIFENISQDVKMAHFSKKFDALQNENELLPTY
                     EIAEKQKALFLQGHLEGVDQELEDEIAENALPNVMESAFYFEQAGVGLGTDETYRIFLA
                     LKQLTDTHPIQRCRFWGKILGLEMNYIVAEVEFREGEDEEEVEEEDVAEERDNGESEAH
                     EDEEDELPKSFYKAPQAIPKEESRTGANKYVYFVCNEPGRPWVKLPPVIPAQIVIARKI
                     KKFFTGRLDAPIISYPPFPGNESNYLRAQIARISAGTHVSPLGFYQFGEEEGEEEEEAE
                     GGRNSFEENPDFEGIQVIDLVESLSNWVHHVQHILSQGRCNWFNSIQKNEEEEEEEDEE
                     KDDSDYIEQEVGLPLLTPISEDLEIQNIPPWTTRLSSNLIPQYAIAVLQSNLWPGAYAF
                     SNGKKFENFYIGWGHKYSPDNYTPPVPPPVYQEYPSGPEITEMDDPSVEEEQAFRAAQE
                     AVLLAAENEESEEDEDEEDDYD"
     misc_feature    146..637
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TD94.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1268..1375
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TD94.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1331..1333
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BYM7; propagated from
                     UniProtKB/Swiss-Prot (Q5TD94.1); phosphorylation site"
     misc_feature    1661..1723
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TD94.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2234..2293
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TD94.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2633..2638
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /note="hexamer: AATAAA"
     polyA_site      2646
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
                     /note="major polyA site"
     polyA_site      2840
                     /gene="RSPH4A"
                     /gene_synonym="CILD11; dJ412I7.1; RSHL3; RSPH6B"
ORIGIN
        1 atggagatag gacgcagcaa ctcacagagc aaccaggacc cagaaatcgc ttaagagacc
       61 gcggcaaagt aacttaactg agttgccttc ttccatattt tcacgcccct ttcatccaga
      121 acattttttt tcttgaactg cttccatgga ggactcaacc tccccgaagc aagaaaaaga
      181 aaaccaagaa gaactagggg aaacaaggcg gccatgggaa ggaaagacag cagcttctcc
      241 ccaatattct gagcctgagt cgtctgagcc cttggaggcg aagcaggggc cagaaactgg
      301 acgccagtcc cgaagcagcc gtccttggag cccgcagtct agagccaaga cgcctctggg
      361 tggccccgcg ggaccagaaa catcatcacc tgctcctgtc tctccgcggg agccctcttc
      421 ctctccttct cccctggctc cggccagaca agacctcgcg gcaccacctc agtcggacag
      481 gaccacgagt gtgattcctg aagctgggac accttatcct gatcctttgg aacaatcatc
      541 tgataaaaga gaatcaactc ctcatcacac aagccagtca gaaggaaaca cctttcaaca
      601 gtctcagcaa cccaaacccc acctgtgtgg acgaagggac gtgagctata acaacgctaa
      661 acagaaagag ctgagatttg acgtttttca ggaggaagac tcaaacagtg actatgattt
      721 acagcagccg gcgcctgggg gctctgaagt ggcccccagc atgcttgaga tcaccattca
      781 gaatgctaag gcttacctgc tgaagactag cagcaattcg ggctttaatc tatatgatca
      841 tctttctaat atgttgacca agatattaaa tgagcgtcct gaaaatgctg ttgacatctt
      901 tgaaaatatt agccaagatg tgaagatggc acattttagt aaaaaatttg atgcactaca
      961 aaatgagaat gagttgcttc caacatatga aatagcagaa aagcaaaagg ctctttttct
     1021 ccagggacat ttggaaggag ttgaccaaga attggaagat gaaatagcag aaaacgctct
     1081 tccaaatgta atggagtcag ctttttattt tgaacaagct ggagttggtt tgggcacaga
     1141 tgagacatac cgcatatttc ttgccctcaa gcagcttact gatacccacc caatccaaag
     1201 atgccgcttc tggggaaaga tcttgggtct ggaaatgaat tatattgtag ctgaagtgga
     1261 atttcgtgag ggggaagatg aagaggaagt ggaagaggaa gatgtagctg aagagaggga
     1321 caatggagaa agtgaagctc atgaagatga ggaagatgaa ttaccaaagt ccttttacaa
     1381 ggccccacag gctataccaa aagaagaaag tagaacaggt gccaacaaat atgtctattt
     1441 tgtttgcaat gaaccaggaa gaccatgggt gaagttacca ccagttatac ctgcacaaat
     1501 tgttattgca agaaaaatca agaaattttt cactgggcga ttggatgctc ccatcataag
     1561 ctacccacct ttcccaggaa atgagagtaa ttatttacga gcacaaattg cccgaatttc
     1621 agcaggaacc cacgtcagtc ctctaggatt ttatcagttt ggtgaagagg aaggagagga
     1681 ggaggaagag gcagaaggtg ggcgaaatag ctttgaggaa aaccctgatt ttgaaggcat
     1741 ccaagtgatt gatctagtag aatccctatc caattgggtt catcatgtac agcatattct
     1801 ctctcagggt cgctgtaatt ggttcaactc catacaaaaa aatgaggaag aagaagagga
     1861 agaagatgaa gaaaaagacg attctgacta catagaacag gaagtggggc ttcctctttt
     1921 gacaccaatc tctgaagatt tagagattca gaatataccc ccctggacaa cacggttatc
     1981 ctcaaatctc attccacaat atgctattgc agtccttcaa tccaaccttt ggcctggagc
     2041 atatgccttc tccaatggca aaaagtttga aaatttctac ataggctggg gtcataagta
     2101 tagtccagac aattatacac ccccagttcc accaccagtt tatcaagaat accccagtgg
     2161 accagaaatt acagaaatgg atgatcctag tgtggaggag gagcaggctt tcagggctgc
     2221 acaagaagca gttctactcg cagctgagaa tgaagaatct gaggaagatg aagatgagga
     2281 agatgattat gactaataaa cataaaatta gcctggtttt atgtgacact gatacacaca
     2341 caccccttat atgggactaa ttttacactt ttctgtgtta tgtgtgtata tacatacaca
     2401 tgtaagaaat tattcaactg caaaatctca atcttgaaaa tcaagcttga aatttcatag
     2461 gtagaaatat tagcattttt attgaaagat actcacagga ttttccagag gctaaataac
     2521 atgcaattgc ataattgttc tgagggttat ggataatgga atatgtgttt gtacattcct
     2581 gtttttaaaa gggctcaggt ttcacatggt ccaggtgagg taaaacaatt aaaataaata
     2641 aataaatggt ctcaggttta atttgtaata cgacaaacac tggaagatat aacccacagg
     2701 aaattcttgg aaacatcaat actttttaaa gagtgtcaag gggtatgaag acaaaaaata
     2761 ttgatagtca ctagagtaat gtattcttaa cctttgtaag aactgatctc agcatgtatt
     2821 cttaaacctt tgtaattacc
//
LOCUS       NM_001010893            1428 bp    mRNA    linear   PRI 15-SEP-2020
DEFINITION  Homo sapiens solute carrier family 10 member 5 (SLC10A5), mRNA.
ACCESSION   NM_001010893
VERSION     NM_001010893.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1428)
  AUTHORS   Pharoah PD, Tsai YY, Ramus SJ, Phelan CM, Goode EL, Lawrenson K,
            Buckley M, Fridley BL, Tyrer JP, Shen H, Weber R, Karevan R, Larson
            MC, Song H, Tessier DC, Bacot F, Vincent D, Cunningham JM, Dennis J,
            Dicks E, Aben KK, Anton-Culver H, Antonenkova N, Armasu SM,
            Baglietto L, Bandera EV, Beckmann MW, Birrer MJ, Bloom G, Bogdanova
            N, Brenton JD, Brinton LA, Brooks-Wilson A, Brown R, Butzow R,
            Campbell I, Carney ME, Carvalho RS, Chang-Claude J, Chen YA, Chen Z,
            Chow WH, Cicek MS, Coetzee G, Cook LS, Cramer DW, Cybulski C,
            Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dork T, du Bois A,
            Durst M, Eccles D, Edwards R, Ekici AB, Fasching PA, Fenstermacher
            D, Flanagan J, Gao YT, Garcia-Closas M, Gentry-Maharaj A, Giles G,
            Gjyshi A, Gore M, Gronwald J, Guo Q, Halle MK, Harter P, Hein A,
            Heitz F, Hillemanns P, Hoatlin M, Hogdall E, Hogdall CK, Hosono S,
            Jakubowska A, Jensen A, Kalli KR, Karlan BY, Kelemen LE, Kiemeney
            LA, Kjaer SK, Konecny GE, Krakstad C, Kupryjanczyk J, Lambrechts D,
            Lambrechts S, Le ND, Lee N, Lee J, Leminen A, Lim BK, Lissowska J,
            Lubinski J, Lundvall L, Lurie G, Massuger LF, Matsuo K, McGuire V,
            McLaughlin JR, Menon U, Modugno F, Moysich KB, Nakanishi T, Narod
            SA, Ness RB, Nevanlinna H, Nickels S, Noushmehr H, Odunsi K, Olson
            S, Orlow I, Paul J, Pejovic T, Pelttari LM, Permuth-Wey J, Pike MC,
            Poole EM, Qu X, Risch HA, Rodriguez-Rodriguez L, Rossing MA, Rudolph
            A, Runnebaum I, Rzepecka IK, Salvesen HB, Schwaab I, Severi G, Shen
            H, Shridhar V, Shu XO, Sieh W, Southey MC, Spellman P, Tajima K, Teo
            SH, Terry KL, Thompson PJ, Timorek A, Tworoger SS, van Altena AM,
            van den Berg D, Vergote I, Vierkant RA, Vitonis AF, Wang-Gohrke S,
            Wentzensen N, Whittemore AS, Wik E, Winterhoff B, Woo YL, Wu AH,
            Yang HP, Zheng W, Ziogas A, Zulkifli F, Goodman MT, Hall P, Easton
            DF, Pearce CL, Berchuck A, Chenevix-Trench G, Iversen E, Monteiro
            AN, Gayther SA, Schildkraut JM and Sellers TA.
  CONSRTM   Australian Cancer Study; Australian Ovarian Cancer Study Group
  TITLE     GWAS meta-analysis and replication identifies three new
            susceptibility loci for ovarian cancer
  JOURNAL   Nat. Genet. 45 (4), 362-370 (2013)
   PUBMED   23535730
REFERENCE   2  (bases 1 to 1428)
  AUTHORS   Fernandes CF, Godoy JR, Doring B, Cavalcanti MC, Bergmann M,
            Petzinger E and Geyer J.
  TITLE     The novel putative bile acid transporter SLC10A5 is highly expressed
            in liver and kidney
  JOURNAL   Biochem. Biophys. Res. Commun. 361 (1), 26-32 (2007)
   PUBMED   17632081
  REMARK    GeneRIF: Molecular cloning and characterization of SLC10A5 as an
            orphan carrier with yet non-identified substrates.
REFERENCE   3  (bases 1 to 1428)
  AUTHORS   Geyer J, Wilke T and Petzinger E.
  TITLE     The solute carrier family SLC10: more than a family of bile acid
            transporters regarding function and phylogenetic relationships
  JOURNAL   Naunyn Schmiedebergs Arch. Pharmacol. 372 (6), 413-431 (2006)
   PUBMED   16541252
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC136631.1, SRR1803611.277196.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000518568.3/ ENSP00000428612.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC132219.3 and BC136625.1.
            On Jun 4, 2019 this sequence version replaced NM_001010893.2.
FEATURES             Location/Qualifiers
     source          1..1428
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.13"
     gene            1..1428
                     /gene="SLC10A5"
                     /gene_synonym="P5"
                     /note="solute carrier family 10 member 5"
                     /db_xref="GeneID:347051"
                     /db_xref="HGNC:HGNC:22981"
                     /db_xref="MIM:618582"
     misc_feature    66..68
                     /gene="SLC10A5"
                     /gene_synonym="P5"
                     /note="upstream in-frame stop codon"
     CDS             87..1403
                     /gene="SLC10A5"
                     /gene_synonym="P5"
                     /note="solute carrier family 10 (sodium/bile acid
                     cotransporter family), member 5; Na(+)/bile acid
                     cotransporter 5; sodium/bile acid cotransporter 5"
                     /codon_start=1
                     /product="sodium/bile acid cotransporter 5 precursor"
                     /protein_id="NP_001010893.1"
                     /db_xref="CCDS:CCDS34915.1"
                     /db_xref="GeneID:347051"
                     /db_xref="HGNC:HGNC:22981"
                     /db_xref="MIM:618582"
                     /translation="MIRKLFIVLLLLLVTIEEARMSSLSFLNIEKTEILFFTKTEETIL
                     VSSSYENKRPNSSHLFVKIEDPKILQMVNVAKKISSDATNFTINLVTDEEGETNVTIQL
                     WDSEGRQERLIEEIKNVKVKVLKQKDSLLQAPMHIDRNILMLILPLILLNKCAFGCKIE
                     LQLFQTVWKRPLPVILGAVTQFFLMPFCGFLLSQIVALPEAQAFGVVMTCTCPGGGGGY
                     LFALLLDGDFTLAILMTCTSTLLALIMMPVNSYIYSRILGLSGTFHIPVSKIVSTLLFI
                     LVPVSIGIVIKHRIPEKASFLERIIRPLSFILMFVGIYLTFTVGLVFLKTDNLEVILLG
                     LLVPALGLLFGYSFAKVCTLPLPVCKTVAIESGMLNSFLALAVIQLSFPQSKANLASVA
                     PFTVAMCSGCEMLLIILVYKAKKRCIFFLQDKRKRNFLI"
     sig_peptide     87..149
                     /gene="SLC10A5"
                     /gene_synonym="P5"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      1406..1411
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC10A5"
                     /gene_synonym="P5"
                     /note="hexamer: ATTAAA"
     polyA_site      1428
                     /gene="SLC10A5"
                     /gene_synonym="P5"
                     /note="major polyA site"
ORIGIN
        1 agactgtcac tggaacacct gcatgaagaa tgttctttca ttttttaaaa acgattttgc
       61 atatatgatt tatttcagct ttcaaaatga ttagaaaact ttttattgtt ctacttttgt
      121 tgcttgtgac tatagaagaa gcaaggatgt catcgctcag ttttctgaat atagagaaga
      181 ctgaaatact atttttcaca aagactgaag aaaccatcct tgtaagttca agctacgaaa
      241 ataaacggcc taattccagc cacctctttg tgaaaataga agatcctaaa atactacaaa
      301 tggtgaatgt ggccaagaag atctcatcag atgctacaaa ctttaccata aatctggtga
      361 ctgatgaaga aggagaaaca aatgtgacta ttcaactctg ggattctgaa ggtaggcaag
      421 aaagactcat tgaagaaatc aagaatgtga aagtcaaagt gctcaaacaa aaagacagtc
      481 tactccaggc accaatgcat attgatagaa atatcctaat gcttatttta ccactaatac
      541 tattgaataa gtgtgcattt ggttgtaaga ttgaattaca gctgtttcaa acagtatgga
      601 agagaccttt gccagtaatt cttggggcag ttacacagtt ttttctgatg ccattttgcg
      661 ggtttctttt gtctcagatt gtggcattgc ctgaggcgca agcttttgga gttgtaatga
      721 cctgcacgtg cccaggaggg ggtgggggct atctctttgc tctgcttcta gatggagatt
      781 tcacattggc cattttgatg acttgcacat caacattatt ggctctgatc atgatgcctg
      841 tcaattctta tatatacagt aggatattag ggttgtcagg tacattccat attcctgttt
      901 ctaaaattgt gtcaacactc cttttcatac ttgtgccagt atcaattgga atagtcatca
      961 agcatagaat acctgaaaaa gcaagcttct tagagagaat aattagacct ctgagtttta
     1021 ttttaatgtt cgtaggaatt tatttgactt tcacagtggg attagtgttc ttaaaaacag
     1081 ataatctaga ggtgattctg ttgggtctct tagttcctgc tttgggtttg ctgtttgggt
     1141 actcctttgc taaagtttgt acgctgcctc ttcctgtttg taaaactgtt gctattgaaa
     1201 gtgggatgtt aaatagtttc ttagctcttg ccgttattca gctgtctttt ccacagtcca
     1261 aggccaattt agcttctgtg gctcctttta cagtagccat gtgttctgga tgtgaaatgt
     1321 tactgatcat tctagtttac aaggctaaga aaagatgtat ctttttctta caagataaaa
     1381 ggaaaagaaa tttcctaatc taacaattaa agcattactg aattccta
//
LOCUS       NM_001010897             802 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens stress associated endoplasmic reticulum protein family
            member 2 (SERP2), transcript variant 1, mRNA.
ACCESSION   NM_001010897
VERSION     NM_001010897.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 802)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 802)
  AUTHORS   Zheng JS, Arnett DK, Lee YC, Shen J, Parnell LD, Smith CE,
            Richardson K, Li D, Borecki IB, Ordovas JM and Lai CQ.
  TITLE     Genome-wide contribution of genotype by environment interaction to
            variation of diabetes-related traits
  JOURNAL   PLoS One 8 (10), e77442 (2013)
   PUBMED   24204828
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 802)
  AUTHORS   Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ,
            Beare DM, Burford DC, Hunt SE, Griffiths-Jones S, Jones MC, Keenan
            SJ, Oliver K, Scott CE, Ainscough R, Almeida JP, Ambrose KD, Andrews
            DT, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Bannerjee R,
            Barlow KF, Bates K, Beasley H, Bird CP, Bray-Allen S, Brown AJ,
            Brown JY, Burrill W, Carder C, Carter NP, Chapman JC, Clamp ME,
            Clark SY, Clarke G, Clee CM, Clegg SC, Cobley V, Collins JE, Corby
            N, Coville GJ, Deloukas P, Dhami P, Dunham I, Dunn M, Earthrowl ME,
            Ellington AG, Faulkner L, Frankish AG, Frankland J, French L, Garner
            P, Garnett J, Gilbert JG, Gilson CJ, Ghori J, Grafham DV, Gribble
            SM, Griffiths C, Hall RE, Hammond S, Harley JL, Hart EA, Heath PD,
            Howden PJ, Huckle EJ, Hunt PJ, Hunt AR, Johnson C, Johnson D, Kay M,
            Kimberley AM, King A, Laird GK, Langford CJ, Lawlor S,
            Leongamornlert DA, Lloyd DM, Lloyd C, Loveland JE, Lovell J, Martin
            S, Mashreghi-Mohammadi M, McLaren SJ, McMurray A, Milne S, Moore MJ,
            Nickerson T, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B,
            Porter KM, Rice CM, Searle S, Sehra HK, Shownkeen R, Skuce CD, Smith
            M, Steward CA, Sycamore N, Tester J, Thomas DW, Tracey A, Tromans A,
            Tubby B, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL,
            Wilming L, Wray PW, Wright MW, Young L, Coulson A, Durbin R, Hubbard
            T, Sulston JE, Beck S, Bentley DR, Rogers J and Ross MT.
  TITLE     The DNA sequence and analysis of human chromosome 13
  JOURNAL   Nature 428 (6982), 522-528 (2004)
   PUBMED   15057823
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC029067.1, BM925772.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379179.8/ ENSP00000368477.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL138960.16 and BC029067.1.
            On Nov 23, 2018 this sequence version replaced NM_001010897.2.
            Transcript Variant: This variant (1) is the longer protein coding
            transcript. Variants 1 and 2 both encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..802
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     gene            1..802
                     /gene="SERP2"
                     /gene_synonym="bA269C23.1; C13orf21"
                     /note="stress associated endoplasmic reticulum protein
                     family member 2"
                     /db_xref="GeneID:387923"
                     /db_xref="HGNC:HGNC:20607"
     misc_feature    38..40
                     /gene="SERP2"
                     /gene_synonym="bA269C23.1; C13orf21"
                     /note="upstream in-frame stop codon"
     CDS             203..400
                     /gene="SERP2"
                     /gene_synonym="bA269C23.1; C13orf21"
                     /note="ribosome-associated membrane protein RAMP4-2"
                     /codon_start=1
                     /product="stress-associated endoplasmic reticulum protein
                     2"
                     /protein_id="NP_001010897.1"
                     /db_xref="CCDS:CCDS31965.1"
                     /db_xref="GeneID:387923"
                     /db_xref="HGNC:HGNC:20607"
                     /translation="MVAKQRIRMANEKHSKNITQRGNVAKTLRPQEEKYPVGPWLLALF
                     VFVVCGSAIFQIIQSIRMGM"
     misc_feature    314..376
                     /gene="SERP2"
                     /gene_synonym="bA269C23.1; C13orf21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6R1.1);
                     transmembrane region"
     regulatory      779..784
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERP2"
                     /gene_synonym="bA269C23.1; C13orf21"
                     /note="hexamer: AATAAA"
     polyA_site      802
                     /gene="SERP2"
                     /gene_synonym="bA269C23.1; C13orf21"
                     /note="major polyA site"
ORIGIN
        1 acttccgtcc gggctgcggc ctctctctgg agtcggctag ccggggctcg gggagcgggg
       61 tgcgcagggc tcggggccac gccttgccac ctgcagcgcc cgggtgggcc gcgggggcct
      121 cggcgggacg cgctcggccc tgtcgcagga gctaacgcag ggggaatcct tgcaggtggg
      181 agcatttcag agcgcacaag ccatggtggc caaacagcgg atccggatgg ctaacgagaa
      241 gcacagcaaa aacatcaccc agagggggaa cgtagccaaa accctgaggc cgcaagagga
      301 gaaatatcct gtgggaccat ggctgttggc actgtttgtt tttgttgtct gtggctcagc
      361 tatctttcag atcattcaga gcataaggat gggcatgtga gaaagccagg gatttgacac
      421 cacctccctc ccactggagg cgggaggaca acggaagcgg tcagccagtt tctgcgggaa
      481 acaagcaggc cacacggaat agaaaaaaac gctcccccac ttgttccctg atcacttcat
      541 cgtggatgtc agaccaaatt gccttctcac aggacatctt ggtgcatccg cgttctcaag
      601 cggaaaggac attttgcttt tctgttggca ggattagtag ccacgcgggt cgtccgcagc
      661 agtgctgttt ttttggtttt tcccttggtt tcactaatgc gtgcatgtgg ccctctgaac
      721 gatcactggt ttactttcta tggatacaat ctctcctcca ttgagaattg attttacaaa
      781 taaatgtctt cgttcaacct ta
//
LOCUS       NM_001010898            6419 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens solute carrier family 6 member 17 (SLC6A17), mRNA.
ACCESSION   NM_001010898
VERSION     NM_001010898.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6419)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 6419)
  AUTHORS   Sweeney MD, Zhao Z, Montagne A, Nelson AR and Zlokovic BV.
  TITLE     Blood-Brain Barrier: From Physiology to Disease and Back
  JOURNAL   Physiol Rev 99 (1), 21-78 (2019)
   PUBMED   30280653
  REMARK    Review article
REFERENCE   3  (bases 1 to 6419)
  AUTHORS   Waltl S.
  TITLE     Mutations in SLC6A17 cause autosomal-recessive intellectual
            disability
  JOURNAL   Clin Genet 88 (2), 136-137 (2015)
   PUBMED   25970702
REFERENCE   4  (bases 1 to 6419)
  AUTHORS   Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H,
            Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE,
            de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, Nadif
            Kasri N, Najmabadi H, Laumonnier F, Kleefstra T and van Bokhoven H.
  TITLE     Homozygous SLC6A17 mutations cause autosomal-recessive intellectual
            disability with progressive tremor, speech impairment, and
            behavioral problems
  JOURNAL   Am J Hum Genet 96 (3), 386-396 (2015)
   PUBMED   25704603
  REMARK    GeneRIF: Our genetic findings implicate homozygous SLC6A17 mutations
            in autosomal-recessive intellectual disability.
REFERENCE   5  (bases 1 to 6419)
  AUTHORS   Zaia KA and Reimer RJ.
  TITLE     Synaptic Vesicle Protein NTT4/XT1 (SLC6A17) Catalyzes Na+-coupled
            Neutral Amino Acid Transport
  JOURNAL   J Biol Chem 284 (13), 8439-8448 (2009)
   PUBMED   19147495
  REMARK    GeneRIF: The substrate profile of the NTT4/XT1-dependent activity is
            similar to that of the closely related B(0)AT2/SBAT1 (SLC6A15),
            including a submillimolar apparent affinity for proline and leucine
            and a low millimolar apparent affinity for glutamine.
REFERENCE   6  (bases 1 to 6419)
  AUTHORS   Parra LA, Baust T, El Mestikawy S, Quiroz M, Hoffman B, Haflett JM,
            Yao JK and Torres GE.
  TITLE     The orphan transporter Rxt1/NTT4 (SLC6A17) functions as a synaptic
            vesicle amino acid transporter selective for proline, glycine,
            leucine, and alanine
  JOURNAL   Mol Pharmacol 74 (6), 1521-1532 (2008)
   PUBMED   18768736
REFERENCE   7  (bases 1 to 6419)
  AUTHORS   Hoglund PJ, Adzic D, Scicluna SJ, Lindblom J and Fredriksson R.
  TITLE     The repertoire of solute carriers of family 6: identification of new
            human and rodent genes
  JOURNAL   Biochem Biophys Res Commun 336 (1), 175-189 (2005)
   PUBMED   16125675
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK289982.1, SRR1803617.257441.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2142853 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000331565.5/ ENSP00000330199.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355990.18, AK289982.1,
            HY005833.1, AL137790.4 and AL137437.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001010898.3.
            Summary: The protein encoded by this gene is a member of the SLC6
            family of transporters, which are responsible for the presynaptic
            uptake of most neurotransmitters. The encoded vesicular transporter
            is selective for proline, glycine, leucine and alanine. In mouse,
            the strongest expression of this gene was in cortical and
            hippocampal tissues where expression increased during embryonic
            brain development and peaked postnatally. Defects in this gene
            cause a form of autosomal recessive intellectual disability.
            [provided by RefSeq, Jul 2017].
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6419
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..6419
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="solute carrier family 6 member 17"
                     /db_xref="GeneID:388662"
                     /db_xref="HGNC:HGNC:31399"
                     /db_xref="MIM:610299"
     misc_feature    421..423
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="upstream in-frame stop codon"
     CDS             478..2661
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="orphan sodium- and chloride-dependent
                     neurotransmitter transporter NTT4; neurotransmitter
                     transporter 4"
                     /codon_start=1
                     /product="sodium-dependent neutral amino acid transporter
                     SLC6A17"
                     /protein_id="NP_001010898.1"
                     /db_xref="CCDS:CCDS30799.1"
                     /db_xref="GeneID:388662"
                     /db_xref="HGNC:HGNC:31399"
                     /db_xref="MIM:610299"
                     /translation="MPKNSKVTQREHSSEHVTESVADLLALEEPVDYKQSVLNVAGEAG
                     GKQKAVEEELDAEDRPAWNSKLQYILAQIGFSVGLGNIWRFPYLCQKNGGGAYLVPYLV
                     LLIIIGIPLFFLELAVGQRIRRGSIGVWHYICPRLGGIGFSSCIVCLFVGLYYNVIIGW
                     SIFYFFKSFQYPLPWSECPVVRNGSVAVVEAECEKSSATTYFWYREALDISDSISESGG
                     LNWKMTLCLLVAWSIVGMAVVKGIQSSGKVMYFSSLFPYVVLACFLVRGLLLRGAVDGI
                     LHMFTPKLDKMLDPQVWREAATQVFFALGLGFGGVIAFSSYNKQDNNCHFDAALVSFIN
                     FFTSVLATLVVFAVLGFKANIMNEKCVVENAEKILGYLNTNVLSRDLIPPHVNFSHLTT
                     KDYMEMYNVIMTVKEDQFSALGLDPCLLEDELDKSVQGTGLAFIAFTEAMTHFPASPFW
                     SVMFFLMLINLGLGSMIGTMAGITTPIIDTFKVPKEMFTVGCCVFAFLVGLLFVQRSGN
                     YFVTMFDDYSATLPLTLIVILENIAVAWIYGTKKFMQELTEMLGFRPYRFYFYMWKFVS
                     PLCMAVLTTASIIQLGVTPPGYSAWIKEEAAERYLYFPNWAMALLITLIVVATLPIPVV
                     FVLRHFHLLSDGSNTLSVSYKKGRMMKDISNLEENDETRFILSKVPSEAPSPMPTHRSY
                     LGPGSTSPLETSGNPNGRYGSGYLLASTPESEL"
     misc_feature    514..516
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BJI1; propagated from
                     UniProtKB/Swiss-Prot (Q9H1V8.3); phosphorylation site"
     misc_feature    535..537
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BJI1; propagated from
                     UniProtKB/Swiss-Prot (Q9H1V8.3); phosphorylation site"
     misc_feature    685..747
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1V8.3);
                     transmembrane region"
     misc_feature    763..825
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1V8.3);
                     transmembrane region"
     misc_feature    919..981
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1V8.3);
                     transmembrane region"
     misc_feature    1033..1035
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9H1V8.3); glycosylation site"
     misc_feature    1144..1206
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1V8.3);
                     transmembrane region"
     misc_feature    1237..1299
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1V8.3);
                     transmembrane region"
     misc_feature    1378..1440
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1V8.3);
                     transmembrane region"
     misc_feature    1480..1542
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1V8.3);
                     transmembrane region"
     misc_feature    1606..1608
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q8BJI1; propagated from
                     UniProtKB/Swiss-Prot (Q9H1V8.3); phosphorylation site"
     misc_feature    1654..1656
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9H1V8.3); glycosylation site"
     misc_feature    1858..1920
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1V8.3);
                     transmembrane region"
     misc_feature    1948..2010
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1V8.3);
                     transmembrane region"
     misc_feature    2059..2121
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1V8.3);
                     transmembrane region"
     misc_feature    2197..2259
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1V8.3);
                     transmembrane region"
     misc_feature    2329..2391
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1V8.3);
                     transmembrane region"
     misc_feature    2470..2472
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BJI1; propagated from
                     UniProtKB/Swiss-Prot (Q9H1V8.3); phosphorylation site"
     misc_feature    2515..2658
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1V8.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2578..2580
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P31662; propagated from
                     UniProtKB/Swiss-Prot (Q9H1V8.3); phosphorylation site"
     regulatory      6396..6401
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="hexamer: AATAAA"
     polyA_site      6419
                     /gene="SLC6A17"
                     /gene_synonym="MRT48; NTT4"
                     /note="major polyA site"
ORIGIN
        1 ctttcggaaa gcgagggaac agtgcgcgca gcgctccgcc cagctccgtt ctgctccgca
       61 gagccggcgc tgccagggcg cagggagggc ggcactcggc cccagtcttc gcaatcccgc
      121 gcgctctctc cgccgtggga cctgggtccc cgcgccgctc ccctgagccc cgagcgcgcg
      181 gcgggcggga gccaggttgg gactggtggt gaggcaggga gtgaggagcg agcggagtcg
      241 cgtgcgccgg cgcgcagctc cgggtcgccc cagccccagc cgggggcctg tggcccgggg
      301 gaggagctgt gcgtccgcga cccgtcgggg atcgcagctg ctcggccgga gtgcacgggc
      361 cgagtctgcg cgactaccca cgcgtgacag gtccctgaat gagaaggagc tgacagcagc
      421 tgaattccat cttctctgtg tgctggggag cagggctaca cggcccaggt ggcatcaatg
      481 ccgaagaaca gcaaagtgac ccagcgtgag cacagcagtg agcatgtcac tgagtccgtg
      541 gccgacctgc tggccctcga ggagcctgtg gactataagc agagtgtact gaatgtggct
      601 ggtgaggcag gcggcaagca gaaggcggtg gaggaggagc tggatgcaga ggaccggccg
      661 gcctggaaca gtaagctgca gtacatcctg gcccagattg gcttctctgt gggcctcggc
      721 aacatctgga ggttccccta cctgtgccag aaaaatggag gaggtgctta cctggtgccc
      781 tacctggtgc tgctgatcat catcgggatc cccctcttct tcctggagct ggctgtgggt
      841 cagaggatcc gccgcggcag catcggtgtg tggcactata tatgtccccg cctggggggc
      901 atcggcttct ccagctgcat agtctgtctc tttgtggggc tgtattataa tgtgatcatc
      961 gggtggagca tcttctattt cttcaagtcc ttccagtacc cgctgccctg gagtgaatgt
     1021 cctgtcgtca ggaatgggag cgtggcagtg gtggaggcag agtgtgaaaa gagctcagcc
     1081 actacctact tctggtaccg agaggccttg gacatctctg actccatctc ggagagtggg
     1141 ggcctcaact ggaagatgac cctgtgcctc ctcgtggcct ggagcatcgt ggggatggct
     1201 gtcgttaagg gcatccagtc ctcggggaag gtgatgtatt tcagctccct cttcccctac
     1261 gtggtgctgg cctgcttcct ggtccggggg ctgttgctgc gaggggcagt tgatggcatc
     1321 ctacacatgt tcactcccaa gctggacaag atgctggacc cccaggtgtg gcgggaggca
     1381 gctacccagg tcttctttgc cttgggcctg ggctttggtg gtgtcattgc cttctccagc
     1441 tacaataagc aggacaacaa ctgccacttc gatgccgccc tggtgtcctt catcaacttc
     1501 ttcacgtcag tgttggccac cctcgtggtg tttgctgtgc tgggcttcaa ggccaacatc
     1561 atgaatgaga agtgtgtggt cgagaatgct gagaaaatcc tagggtacct taacaccaac
     1621 gtcctgagcc gggacctcat cccaccccac gtcaacttct cccacctgac cacaaaggac
     1681 tacatggaga tgtacaatgt catcatgacc gtgaaggagg accagttctc agccctgggc
     1741 cttgacccct gccttctgga ggacgagctg gacaagtccg tgcagggcac aggcctggcc
     1801 ttcatcgcct tcactgaggc catgacgcac ttccccgcct ccccgttctg gtccgtcatg
     1861 ttcttcttga tgcttatcaa cctgggcctg ggcagcatga tcgggaccat ggcaggcatc
     1921 accacgccca tcatcgacac cttcaaggtg cccaaggaga tgttcacagt gggctgctgt
     1981 gtctttgcat tcctcgtggg gctgttgttc gtccagcgct ccggaaacta ctttgtcacc
     2041 atgttcgatg actactcggc caccctgcca ctcactctca tcgtcatcct tgagaacatc
     2101 gctgtggcct ggatttatgg aaccaagaag ttcatgcagg agctgacgga gatgctgggc
     2161 ttccgcccct accgcttcta tttctacatg tggaagttcg tgtctccact atgcatggct
     2221 gtgctcacca cagccagcat catccagctg ggggtcacgc ccccgggcta cagcgcctgg
     2281 atcaaggagg aggctgccga gcgctacctg tatttcccca actgggccat ggcactcctg
     2341 atcaccctca tcgtcgtggc gacgctgccc atccctgtgg tgttcgtcct gcggcacttc
     2401 cacctgctct ctgatggctc caacaccctc tccgtgtcct acaagaaggg ccgcatgatg
     2461 aaggacatct ccaacctgga ggagaacgat gagacccgct tcatcctcag caaggtgccc
     2521 agtgaggcac cttcccccat gcccactcac cgttcctatc tggggcccgg cagcacatca
     2581 cccctggaga ccagcggtaa ccccaatgga cgctatggga gcggctacct gctggccagc
     2641 acccctgagt cggagctgtg accactgccc aagccctgcc cgcctctccc cccacgctca
     2701 acctgcccac ttgtccaggc ctggcctctt tcttgaggtg gccaccaggc ccaggccagg
     2761 ccctttgccc aagaagagag ggtctgccct gcctcactcc cctcttcagt cccagtagac
     2821 tctgctccct agccctgagc aggaggctgg gagcagctct gtttcctaat tcaggacccc
     2881 actcatctag ccctccaaga gcctccgcca aattgtagcc atgtaattgg aacaacccat
     2941 aaggcctgct tcccagtcca tgggagattc caagtggcca ctgcaggagt cactcacctc
     3001 cctctctccc tgtaacttgc cacctgcagt tcttagggct gtggggtcag atggtggtgg
     3061 tgagaggcct tggggctggg gaaggagagt ggactttggc tcactctgcc atgagaacag
     3121 gacaccatcc tgcccagccc agacggggtt gctcctggtc caagaggcta cctgctccaa
     3181 ggcggagggt gggagcaggt gtgccagggc tcagggctca gacttgggag ggcctaggca
     3241 gaagccccaa gttctgtttt ctgaggtatg tgctgccctt ggcttcagca tgagccttgg
     3301 tagcagaagg tgaggaacct cctctgccct ggtccctggg tggaatcttc ccatgtcctt
     3361 ggccctgcct ggggtgtgtg gtgtgtgctc ctgcatcttg tctgggagtg cagtgaccgg
     3421 gaccagaacc ttccccacct caattagggc ttagccatct ccctgtcccc agcacccctc
     3481 cccagcccac agtggtggcc tctgcctctt tcctggagag agaaggacag tgcacggaga
     3541 ggtttccaga gcacaaattg ttggttccta gcacaaatta gatggtttgg agcacaatgg
     3601 tgaagcacac tcccctccct cctcacctgg ggtccaatgt tctgtctagt ggcagctttt
     3661 cccctggaac aggggtccct ggagttcaca ggcttatccc caggaagcct cactcctggg
     3721 gaaagacaga taatttcact gcccctttga gccaccactc actctcctta ttacacaagc
     3781 acagccgccc agtgtgcaca tcatgtgcag acaccttgga aacctttccc aagccttcct
     3841 ggcccacagt ggccagtgcc ataggcagtg ctgtggacag tagaggctgc caaaggcaag
     3901 ggctggtctt caggatggag gccagcctgt gcagaaggct gcagctgaca acagcgaccc
     3961 cacctgccat taccttcagg gcctcctctg gaagagaacc cattctcaga gtgcagccag
     4021 ggaggaacct gacccaagag taaatgtctg cagagagatg gatggatgga tggatagatg
     4081 gatggatggg ttggggagtg ggggtggatg gatggataga tggatggatg gatggatgga
     4141 tgggttgggg ggtgggggtg gatggataga tggatggatg gatggacgga tggggtgggg
     4201 gaaggaagga aaggagggag aaaggaggga atactggctc catctttgag agctctggtg
     4261 ggcagggcag aaacaggcca cagtgctcaa cccggacacc ctcacgaagg gtcgcaagtc
     4321 actcttgtgg ctcagattgc tcttaggacc tggagggaca gaccagaatc agggtcccct
     4381 cctttacccc tgagttcctt actgttcccc caagcctggg agcagtctat cccccaaccc
     4441 tgccatctcc cttactcatc cctcttccac agcttcccct ttctagcccc ctctgcccta
     4501 cctgtctttc ctgagtgttt gaggggagag agagacccac atctccccaa agagatgagc
     4561 ttttggggca caacatccca ccgcagtccc cctcacccga caacacctcc tacctggccc
     4621 cttgccaaat cccaagcaga attagcaaca ggaaaagcag agccccagga gagacactct
     4681 actatatata ctcttctata tattctgttt ctattgtata ttcactctgt acatgtgggt
     4741 gtaaatgctg ttaaatgaca aacccaatat tatactgtgg ctggtggact attttcatcc
     4801 tcagtgctgt acagatctat tttcattgta tatttgatat atttttaatt ttgtagcgtg
     4861 tggctgggcc aggccccagc gggaggggct gagctggggc tgtgtgcttg ctaggtgtgg
     4921 gcgcgctagt gctcgttgta gccttttgct gtgtcttcgc tgtgtgttag acgtagggcc
     4981 tagagctcgg ggtgtgtgtg tgcgtgctgt gtgtatggtg tgcacatacg tgagtgtggg
     5041 tgtgtgtagc gtgctgatct gtgactccca gtgttcacca ccttcctgaa gaccacgctc
     5101 cctccccctg cctcctcctc ctcctcttgg ctctattggg agcctcaggg ccggcagggt
     5161 gcttcgggag ccccctgcta cggggaaagg catgtgtttc ttgctggtga ctcattgcct
     5221 tcacaccact gggtttgcca gaaacaggga aggagggcgt taagggaaaa aaaaaatcct
     5281 caaatttatt taccagtcag cttcttgctg ttcccagtag aatcgctagc tcttctccag
     5341 aggaaaagta ctaggattct taagatggcg agaccccaag agggatctca tagcactgct
     5401 gcatttgccg ttgacgcagt cctgacagtg tttgaaaagg gccgcctgcc ccctccccac
     5461 tgtgcttttg atgcctttgg agtcaaaggc aggtggggtc acctgatgag ctaagatcca
     5521 gccccagaat cctggaggag caggaggtag caggagagga ccaggtcccc aagtcccttc
     5581 acagggtccc cacccccact ggctttggtg ctgtccacac agtgcccacc agaaggcaga
     5641 gggaactcca gggcagggat gtgcctgaaa gagtcaacag tcccctgatc ccctacctct
     5701 gcctgccctc cagccccatc accagcttct tgctcaggga gacttccgcc ctcctcactg
     5761 aggcaacatg aagcccgagg cccagatggg ggctgaacag gtagggcaca tcagttaatg
     5821 ccagtgaggt cagcttctgc cctccagcaa tacatgtgca ggggttgctg ctttcccagt
     5881 gccaggagaa cccccgctcc gagtcagcct gtgtgggtca tgaggctggg gcccaggaga
     5941 cacggtccca ggcactgcac aggcctgcag tattaccagg cggaggggct gcttttctgc
     6001 ccttcctcac ccccacgccc caccccactc ccccagagta ctccccactg tgaaaagagc
     6061 tggaaactaa actggttaga atgaacctgg ctccctgagc atccctggat ccttcaaata
     6121 ggccctgaga tgtgaggtct gctgcttcac tggggcccga tgactttggc tgggggaggg
     6181 ggcctagggc ctcttctcat tgaaagctct gctttataca gacccaagca tacacaccag
     6241 gccgtcactt tgggttctgg cataagttca gaacaattca agtccatgtg tcccatggct
     6301 ggtcagagcc ctgggtcaaa accactcagc ccaggggagg ggatgaggca ttgtcaccct
     6361 agacccctct tcctctctcc cccaccatag tgtgcaataa agtgtctgtt cttaccaaa
//
LOCUS       NM_001010903            3735 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens BCL2 interacting protein 5 (BNIP5), mRNA.
ACCESSION   NM_001010903
VERSION     NM_001010903.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3735)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3735)
  AUTHORS   DeBartolo J, Taipale M and Keating AE.
  TITLE     Genome-wide prediction and validation of peptides that bind human
            prosurvival Bcl-2 proteins
  JOURNAL   PLoS Comput Biol 10 (6), e1003693 (2014)
   PUBMED   24967846
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX648558.1, BC140873.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968540
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000437635.3/ ENSP00000418983.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Z84484.1, BX648558.1 and BC140873.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001010903.4.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3735
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..3735
                     /gene="BNIP5"
                     /gene_synonym="C6orf222"
                     /note="BCL2 interacting protein 5"
                     /db_xref="GeneID:389384"
                     /db_xref="HGNC:HGNC:33769"
     misc_feature    89..91
                     /gene="BNIP5"
                     /gene_synonym="C6orf222"
                     /note="upstream in-frame stop codon"
     CDS             182..2140
                     /gene="BNIP5"
                     /gene_synonym="C6orf222"
                     /note="uncharacterized protein C6orf222"
                     /codon_start=1
                     /product="protein BNIP5"
                     /protein_id="NP_001010903.3"
                     /db_xref="CCDS:CCDS34439.1"
                     /db_xref="GeneID:389384"
                     /db_xref="HGNC:HGNC:33769"
                     /translation="MENPRCPRRPLAEKKARSLDRPQAPGKGSESWDCHWLSLPTAPSR
                     KALHWTTSDWARHSDSPAPSAEAHCTTAAAPTPEETGDFLPSEQRPSQDTKKGWLKTML
                     NFFVRTGPEEPREKASRRPRGKEGISQHPEPLEAAGEPALRKKAHHDKKPSRKKQGHKK
                     HAAEVTKAAQDQEARGREEGLSKAAAALRSGEADLGPARRGGEDSDHQSFLIKVDGTGA
                     LDVSPHATGHQQEEELKKPDQDAIIQMIVELLKRVGDQWEEEQSLASQLGVALPNPAPA
                     VRKKSQEKKTSLKRTSKTNPKKHGSEEAKRGAADVSSPEAWPPKKSSFLPLCVSGHRPS
                     ISSSYGLEEPKVQEAPSTEAGAPGPSVLPTPSESQEPGEELPLDRASEYKEFIQKIISM
                     LQDAEEQQGEEQPQVQQEEVGVENPAPHCRRKSQEKRSSFRRAFYHKKHTSKEPRRAGA
                     AGAASPEARRPKRPSFLPLCVGGHRPSTSSSLDPEDLECREPLPAEGEPVVISEAPSQA
                     RGHTPEGAPQLSGACESKEIIIQKLVALLQEVDGQLGQQIRRHPSFKRFFYEFSDSSLS
                     KLVATLRSQVAHSSKLDRNRARRLYQFDVSLANKFAGSNSHAMCILMGLRDHYNCTQFP
                     YREDQPNITSPKVESPD"
     misc_feature    182..283
                     /gene="BNIP5"
                     /gene_synonym="C6orf222"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C671.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    338..910
                     /gene="BNIP5"
                     /gene_synonym="C6orf222"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C671.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    956..1663
                     /gene="BNIP5"
                     /gene_synonym="C6orf222"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C671.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3716..3721
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BNIP5"
                     /gene_synonym="C6orf222"
                     /note="hexamer: AATAAA"
     polyA_site      3735
                     /gene="BNIP5"
                     /gene_synonym="C6orf222"
                     /note="major polyA site"
ORIGIN
        1 gacactcaga aaattgccag caccaaagta gtggcatctt ctccctggga gagctgggtc
       61 tgacttctca ctggacacaa cttccagctg acagggagca gagcctaaca cagagacctc
      121 ttgtctgaag atcccagccc agggtgttca ggacagaagc gatttctgtg gtccaagccc
      181 gatggagaat ccaaggtgcc caaggaggcc cctggcggag aagaaagcca ggtctctgga
      241 caggccgcag gcccccggga aaggctcgga gtcgtgggac tgccattggc tctccctgcc
      301 cactgccccc tccaggaagg cgcttcactg gacgaccagt gattgggcca gacattcaga
      361 cagcccagct ccatctgcag aggctcactg caccaccgct gcagccccca ctcccgagga
      421 gaccggagat tttctcccca gcgagcagag gccttcgcaa gacaccaaga aggggtggct
      481 gaagaccatg ctgaacttct tcgtgaggac gggccctgag gagcccagag aaaaggccag
      541 caggaggcca agggggaagg agggtatctc ccagcatccg gagcccctgg aagcagcagg
      601 ggagccagcc ctcaggaaga aagcccacca cgacaagaag cccagccgca agaagcaagg
      661 tcacaagaaa cacgcggccg aggtgactaa ggcagctcaa gaccaggagg ccagaggccg
      721 agaggaaggg ttgtccaagg cagctgctgc cttgcgctcc ggggaggctg acctgggccc
      781 agctcgcagg ggtggggaag attctgatca ccagtccttc ctcatcaaag tggatggtac
      841 tggagctttg gatgtttctc cccatgccac aggtcatcag caagaagagg agctcaaaaa
      901 gcctgaccag gatgctatca ttcagatgat agtggaattg ctcaaaagag tgggagacca
      961 gtgggaagaa gagcaatctc tggcctcaca gctgggggtg gccctgccaa acccagcacc
     1021 agctgttagg aagaaatccc aagagaaaaa gacaagcctc aagagaacct caaagacaaa
     1081 ccccaagaaa cacggctccg aggaggccaa gaggggggct gcagatgttt ccagtccaga
     1141 ggcctggcca cccaagaagt ccagctttct gcccctgtgt gtcagcggcc atcggccttc
     1201 catctccagc agctatggct tggaagaacc taaagtccag gaggccccat ctacagaggc
     1261 tggggctcca ggtccctccg tgcttcccac cccatcagag agccaggaac ctggagagga
     1321 gcttccgctg gacagagcct cggaatacaa agaattcatt cagaagatca tttccatgct
     1381 ccaagatgca gaagaacagc aaggagagga gcaacctcaa gtccagcagg aagaggtggg
     1441 tgtagaaaac ccggccccac actgcagaag gaaatctcaa gaaaaaaggt cgagcttcag
     1501 gagagcgttt taccataaga aacacacctc caaggaaccc agaagagcgg gggcagcagg
     1561 ggctgccagc ccagaggccc gacgacccaa gaggcccagc tttctgcccc tgtgtgttgg
     1621 tggccatcgg ccctccacct ccagcagcct tgatccagaa gatctcgagt gccgggagcc
     1681 cctgcccgca gaaggggagc cagttgtgat ctcagaagca ccctcccagg ctagaggcca
     1741 cacgccagaa ggggcacctc agctgagtgg agcatgtgaa tctaaggaga tcatcatcca
     1801 gaagcttgtg gcacttctcc aagaagtgga tggccaactg gggcagcaga tcaggcgcca
     1861 ccccagcttt aagaggtttt tttacgagtt ctcggactcc tccctcagca agctggtagc
     1921 caccctgcgc agccaggtgg ctcactcctc taagctggac aggaaccgcg ccaggagact
     1981 ctaccagttt gacgttagct tagctaacaa atttgctggc agcaacagcc atgccatgtg
     2041 catcctcatg ggcctaagag accactacaa ttgcacccag ttcccataca gggaggacca
     2101 gccgaacatc acaagtccta aggttgaaag tccagattga aagctgtgtc ttgcactcaa
     2161 attcccttga actagccaaa tggttcgcag ctttagccag gagaccctga agatgctctg
     2221 tgatgtccca atccctgctt cacaaacgtg atggaagaca agagcagaca atcattctgt
     2281 gtccataccc tagtatctga gaagcacaga gcattcttcc acaaggcaag acacagaggc
     2341 catgtctggg gaaatcagca ctggactggg aatgaggaag actggggctc tacctgctga
     2401 acctacccca gacttgctgc atgaccctct acacattccc cctcctctcc agactttgga
     2461 gtctaggatc ccacccagaa ggcctactga tattttctca gatgttcatg ttaactgagt
     2521 ctagttttta aactaaattt ttatttaatc tctaaacaga acatccacat gcatccaaac
     2581 agatatgcat cgaagtgtat cccatcattt cttcagttga ccagtagttc ttcatgctca
     2641 tatggatttg tagatgcctc ccaggaactc tgcaggccca agatggaaaa acctagagac
     2701 tggggacact tggtctctca gaatccttct aaccctgtgt cctgtcattc tatgactaga
     2761 gaaatggagc tgataccttg cacctctccc atctcatggg attggctagg agtcagtgag
     2821 aaaatggatg tgaagagttc tgaaaattac ctagtgccat gtccatgtag gcactatagc
     2881 ttcttttggg tagttttcag gaagtggagg agggcttcaa tgggctggac tgccatggat
     2941 tgttgcacag gggtgcactg ctcaagagca ccatactcca ggaggtacta ttcatgtcct
     3001 agacattgtg gatttgtaga tttatcatga cagttttgca gctggtagca gtaacatgtc
     3061 ttgagaaaag ggctattttt tgtatttgca caaaggtgaa gtgtgggggt gccagaggct
     3121 ctgccttctg tatagctcaa cagtttcaat agcttgactc aggtgtgaaa tttgccacat
     3181 gttcatatct atgtgcagga aggacaagac tgtagacaga cagtcggctc ccttggacac
     3241 tgcccagaac atgtggtcat gggggaaagg gtgttaaacc tggatggcaa gtgagatctt
     3301 gtgacccttg gggacatggt attgccgtgt tgaacctgct gtcgcaccat ggggtaggac
     3361 tggggaggag gagcagtcta gagcggagag gccctgggtg cttatatggg actggcctcc
     3421 aacctgaggc actggcttca taagctcaac tcagcctatc cggaaagcca tttagttttt
     3481 attgctgctt ctgagaagtg ggggagaggt gagctatttg tggatttgtt ttaggcagtg
     3541 ttcacaatca tagcacctaa atatgaagga tcagaataag ttatgaaatg aaggtcagga
     3601 accttttgta catagtttct tatttggaat gatgttcttt aagccctatg agtatttggt
     3661 atgtgctcct gatgctggca tctgagtctc atttttgtac cgtgttattt gagcaaataa
     3721 atacattaac ttgca
//
LOCUS       NM_001010904            2179 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens glycine-N-acyltransferase like 3 (GLYATL3), mRNA.
ACCESSION   NM_001010904
VERSION     NM_001010904.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2179)
  AUTHORS   Stein JL, Hua X, Lee S, Ho AJ, Leow AD, Toga AW, Saykin AJ, Shen L,
            Foroud T, Pankratz N, Huentelman MJ, Craig DW, Gerber JD, Allen AN,
            Corneveaux JJ, Dechairo BM, Potkin SG, Weiner MW and Thompson P.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Voxelwise genome-wide association study (vGWAS)
  JOURNAL   Neuroimage 53 (3), 1160-1174 (2010)
   PUBMED   20171287
REFERENCE   2  (bases 1 to 2179)
  AUTHORS   Waluk DP, Schultz N and Hunt MC.
  TITLE     Identification of glycine N-acyltransferase-like 2 (GLYATL2) as a
            transferase that produces N-acyl glycines in humans
  JOURNAL   FASEB J 24 (8), 2795-2803 (2010)
   PUBMED   20305126
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DB246049.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142348
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371197.9/ ENSP00000360240.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590244.5, DB246049.1 and AW591696.1.
            On Nov 22, 2018 this sequence version replaced NM_001010904.1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments and orthologous data.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2179
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.3"
     gene            1..2179
                     /gene="GLYATL3"
                     /gene_synonym="bA28H17.2; C6orf140"
                     /note="glycine-N-acyltransferase like 3"
                     /db_xref="GeneID:389396"
                     /db_xref="HGNC:HGNC:21349"
                     /db_xref="MIM:614763"
     misc_feature    107..109
                     /gene="GLYATL3"
                     /gene_synonym="bA28H17.2; C6orf140"
                     /note="upstream in-frame stop codon"
     CDS             149..1015
                     /gene="GLYATL3"
                     /gene_synonym="bA28H17.2; C6orf140"
                     /EC_number="2.3.1.13"
                     /note="acyl-CoA:glycine-N-acyltransferase-like protein 3"
                     /codon_start=1
                     /product="glycine N-acyltransferase-like protein 3"
                     /protein_id="NP_001010904.1"
                     /db_xref="CCDS:CCDS47440.1"
                     /db_xref="GeneID:389396"
                     /db_xref="HGNC:HGNC:21349"
                     /db_xref="MIM:614763"
                     /translation="MLVLNCSTKLLILEKMLKSCFPESLKVYGAVMNINRGNPFQKEVV
                     LDSWPDFKAVITRRQREAETDNLDHYTNAYAVFYKDVRAYRQLLEECDVFNWDQVFQIQ
                     GLQSELYDVSKAVANSKQLNIKLTSFKAVHFSPVSSLPDTSFLKGPSPRLTYLSVANAD
                     LLNRTWSRGGNEQCLRYIANLISCFPSVCVRDEKGNPVSWSITDQFATMCHGYTLPEHR
                     RKGYSRLVALTLARKLQSRGFPSQGNVLDDNTASISLLKSLHAEFLPCRFHRLILTPAT
                     FSGLPHL"
     regulatory      2162..2167
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLYATL3"
                     /gene_synonym="bA28H17.2; C6orf140"
                     /note="hexamer: ATTAAA"
     polyA_site      2179
                     /gene="GLYATL3"
                     /gene_synonym="bA28H17.2; C6orf140"
                     /note="major polyA site"
ORIGIN
        1 gtttccacta agggctaatt agagaggtag ccttgaagaa taaacttacc atttatataa
       61 aagggctact ggactgatac acagctgaaa accctcagtt ctggactgaa ctcccagcag
      121 gtgtggagtt gcaagagctc tggaaaagat gttggtgcta aactgttcta ccaaattact
      181 gatactggag aaaatgttga agagttgctt tcctgaatca ctcaaggttt acggagcggt
      241 gatgaacata aatcgtggga acccctttca aaaggaagtg gtgttggatt catggccgga
      301 tttcaaagct gttatcaccc gacgacaaag agaggctgag acagataacc ttgatcatta
      361 tactaatgcc tatgctgtgt tctacaagga tgtcagggct tatcgacagc tattggaaga
      421 atgtgatgtt tttaactggg accaagtttt tcaaatacaa gggctgcaga gtgagttata
      481 tgatgtttcc aaagcggttg ccaattcaaa gcagttgaat ataaagctaa cttccttcaa
      541 ggctgttcat ttttctcctg tttcatctct gccagatacc agtttcctca aggggccttc
      601 cccacgacta acctacctga gtgttgccaa tgcggatcta ctcaaccgga cttggtcccg
      661 gggaggcaat gaacaatgtc tccggtacat cgccaacctc atctcctgct tccctagtgt
      721 gtgtgtccgg gatgagaagg gaaacccggt ctcctggtcc atcacagacc agtttgccac
      781 catgtgccat ggctacaccc tgccagaaca tcgcaggaaa ggttacagcc ggctggtggc
      841 cctcacgctg gccaggaagt tgcaaagccg gggattcccc tctcagggga acgtcctgga
      901 tgacaacacg gcgtctataa gcctcctgaa gagtctccat gctgagttct tgccttgtcg
      961 cttccacagg cttattctca cccctgcgac tttctctggc ctgcctcacc tctagcccag
     1021 taaaaaactg cagtggtttt attactttcc ctgagcatac acacactctt ggctgccaac
     1081 gaggggagag ttaaaatggg aatcagggga ctcttgagtt gttggaaagg gtctggagaa
     1141 tatatacagg atccacttga gaagccttaa tttttcgtat ctcaggtttc tccagtaaat
     1201 agctgtgggg gtgaagagta gctgtggctg aagactgagg acgattgtcc tcctgtagga
     1261 tccactgtag gagaataggt tctaaagcca gcagttttag tgtactagga gaaattactg
     1321 catgagaaca aatgatttaa cagaggacca cgtggctact gctttttgat tgctgcttgg
     1381 acctctgctc tgtattctta aagccacacc gcttccctac tgccatcata ttcccctgtc
     1441 cccactgcta tgtctcatca acctctgttc ctaacacctc tgccaccaag ttctctgtag
     1501 agtaacctcc tttttcccct ttaattactt gctctttact tctgcctagg actctagcct
     1561 atagttcact gccctgggaa tgttcaaata tagtggttct tacattttag tgtttatcag
     1621 aatcacccag agggcaggtt gcaacacaca tcactaggcc tctccttcta cgaggtaggg
     1681 cccaaaattt gcatttctaa cagcttccca ctgcttattt gccttggatg aatgacaata
     1741 tgggcatttt gatgctataa acaaatgctg tcaccataga actagacttt acctataacc
     1801 tatttcagcc cccttattta tagtctactt tcccatataa aactaagatt tatatatagg
     1861 ggtgtttggg ggtatgcaaa tgaatatata acatatatgc atacacatat atatacattc
     1921 tcttcatttc ttttatatgt ataggtatat actcatagaa ttttgataag ataataaatt
     1981 ttaacccttt gattacatat gaaaaatttg aggaccagag aaaataaatg actttttcaa
     2041 gattatattc tttataatca gtactggagg caaagccaga atgctgccat tttaattcca
     2101 atctgttatt ttcactaaat catgtatcct tttttataat gaaaattaaa atgcttacat
     2161 aattaaaata ttaatttta
//
LOCUS       NM_001010905            1203 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.
ACCESSION   NM_001010905
VERSION     NM_001010905.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1203)
  AUTHORS   Saitou M, Gaylord EA, Xu E, May AJ, Neznanova L, Nathan S, Grawe A,
            Chang J, Ryan W, Ruhl S, Knox SM and Gokcumen O.
  TITLE     Functional Specialization of Human Salivary Glands and Origins of
            Proteins Intrinsic to Human Saliva
  JOURNAL   Cell Rep 33 (7), 108402 (2020)
   PUBMED   33207190
REFERENCE   2  (bases 1 to 1203)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1203)
  AUTHORS   Hu M, Bai Y, Zhang C, Liu F, Cui Z, Chen J and Peng J.
  TITLE     Liver-Enriched Gene 1, a Glycosylated Secretory Protein, Binds to
            FGFR and Mediates an Anti-stress Pathway to Protect Liver
            Development in Zebrafish
  JOURNAL   PLoS Genet 12 (2), e1005881 (2016)
   PUBMED   26901320
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1203)
  AUTHORS   Thaysen-Andersen M, Venkatakrishnan V, Loke I, Laurini C, Diestel S,
            Parker BL and Packer NH.
  TITLE     Human neutrophils secrete bioactive paucimannosidic proteins from
            azurophilic granules into pathogen-infected sputum
  JOURNAL   J Biol Chem 290 (14), 8789-8802 (2015)
   PUBMED   25645918
REFERENCE   5  (bases 1 to 1203)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   6  (bases 1 to 1203)
  AUTHORS   Ramachandran P, Boontheung P, Xie Y, Sondej M, Wong DT and Loo JA.
  TITLE     Identification of N-linked glycoproteins in human saliva by
            glycoprotein capture and mass spectrometry
  JOURNAL   J Proteome Res 5 (6), 1493-1503 (2006)
   PUBMED   16740002
REFERENCE   7  (bases 1 to 1203)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK303850.1, BC062712.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000329722.8/ ENSP00000328069.7
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK303850.1 and AL583806.7.
            On Nov 22, 2018 this sequence version replaced NM_001010905.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1203
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.33"
     gene            1..1203
                     /gene="C6orf58"
                     /gene_synonym="LEG1"
                     /note="chromosome 6 open reading frame 58"
                     /db_xref="GeneID:352999"
                     /db_xref="HGNC:HGNC:20960"
     CDS             13..1005
                     /gene="C6orf58"
                     /gene_synonym="LEG1"
                     /note="UPF0762 protein C6orf58; protein LEG1 homolog; liver
                     enriched gene 1 homolog"
                     /codon_start=1
                     /product="protein LEG1 homolog precursor"
                     /protein_id="NP_001010905.1"
                     /db_xref="CCDS:CCDS34533.1"
                     /db_xref="GeneID:352999"
                     /db_xref="HGNC:HGNC:20960"
                     /translation="MAFLPSWVCVLVGSFSASLAGTSNLSETEPPLWKESPGQLSDYRV
                     ENSMYIINPWVYLERMGMYKIILNQTARYFAKFAPDNEQNILWGLPLQYGWQYRTGRLA
                     DPTRRTNCGYESGDHMCISVDSWWADLNYFLSSLPFLAAVDSGVMGISSDQVRLLPPPK
                     NERKFCYDVSSCRSSFPETMNKWNTFYQYLQSPFSKFDDLLKYLWAAHTSTLADNIKSF
                     EDRYDYYSKAEAHFERSWVLAVDHLAAVLFPTTLIRSYKFQKGMPPRILLNTDVAPFIS
                     DFTAFQNVVLVLLNMLDNVDKSIGYLCTEKSNVYRDHSESSSRSYGNNS"
     sig_peptide     13..72
                     /gene="C6orf58"
                     /gene_synonym="LEG1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     73..1002
                     /gene="C6orf58"
                     /gene_synonym="LEG1"
                     /product="Protein LEG1 homolog. /id=PRO_0000252385"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P5S2.2)"
     misc_feature    82..84
                     /gene="C6orf58"
                     /gene_synonym="LEG1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6P5S2.2); glycosylation site"
     misc_feature    217..219
                     /gene="C6orf58"
                     /gene_synonym="LEG1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16740002; propagated from
                     UniProtKB/Swiss-Prot (Q6P5S2.2); glycosylation site"
     regulatory      1166..1171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6orf58"
                     /gene_synonym="LEG1"
                     /note="hexamer: ATTAAA"
     regulatory      1179..1184
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6orf58"
                     /gene_synonym="LEG1"
                     /note="hexamer: ATTAAA"
     polyA_site      1188
                     /gene="C6orf58"
                     /gene_synonym="LEG1"
                     /note="major polyA site"
     polyA_site      1203
                     /gene="C6orf58"
                     /gene_synonym="LEG1"
                     /note="major polyA site"
ORIGIN
        1 agctctggca caatggcttt tcttccttcc tgggtttgtg tactagttgg ttccttttct
       61 gcttccttag cagggacttc caatctctca gagacagagc cccctctgtg gaaggagagt
      121 cctggtcagc tcagtgacta cagggtggag aacagcatgt acattattaa tccctgggta
      181 taccttgaga gaatggggat gtataaaatc atattgaatc agacagccag gtattttgca
      241 aaatttgcac cagataatga acagaatatt ttatgggggt tgcctctgca gtatggctgg
      301 caatatagga caggcagatt agctgatcca acccgaagga caaactgtgg ctatgaatct
      361 ggagatcata tgtgcatctc tgtggacagt tggtgggctg atttgaatta ttttctgtct
      421 tcattaccct ttcttgctgc ggttgattct ggtgtaatgg ggatatcatc agaccaagtc
      481 aggcttttgc ccccacccaa gaatgagagg aagttttgtt atgatgtttc tagctgtcgt
      541 tcatccttcc ctgagacaat gaacaagtgg aacacctttt accagtattt gcagtcacct
      601 tttagtaagt ttgatgatct gttgaagtac ttatgggctg cacacacttc aaccttggca
      661 gataatatca aaagttttga agacagatat gattattatt ctaaagcaga agcgcatttt
      721 gagagaagtt gggtactggc tgtggatcat ttagctgcag tcctctttcc tacaaccttg
      781 attagatcat ataagttcca gaagggcatg ccaccacgaa ttcttcttaa tactgatgta
      841 gcccctttca tcagtgactt tactgctttt cagaatgtag tcctggttct tctaaatatg
      901 cttgacaatg tggataaatc tataggttat ctttgtacag aaaaatctaa tgtatataga
      961 gatcattcgg aatctagctc tagaagttat ggaaataact cctgaaacat ttaacttcaa
     1021 acttcaggaa atgattaatg aattaaaaat gaaaaactcg aacttgacaa tcagtaattt
     1081 caaaaaatta atgtcatcat gaccatgtag tttattcttt ctgatatttt tgatttatgc
     1141 ttatttgtta agatcttgta catgtattaa aaacttaaat taaatgcatt caagttaaaa
     1201 taa
//
LOCUS       NM_001010906            3952 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens nuclear GTPase, germinal center associated (NUGGC),
            mRNA.
ACCESSION   NM_001010906
VERSION     NM_001010906.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3952)
  AUTHORS   Richter K, Burch L, Chao F, Henke D, Jiang C, Daly J, Zhao ML,
            Kissling G and Diaz M.
  TITLE     Altered pattern of immunoglobulin hypermutation in mice deficient in
            Slip-GC protein
  JOURNAL   J Biol Chem 287 (38), 31856-31865 (2012)
   PUBMED   22833677
REFERENCE   2  (bases 1 to 3952)
  AUTHORS   Perroud N, Uher R, Ng MY, Guipponi M, Hauser J, Henigsberg N, Maier
            W, Mors O, Gennarelli M, Rietschel M, Souery D, Dernovsek MZ, Stamp
            AS, Lathrop M, Farmer A, Breen G, Aitchison KJ, Lewis CM, Craig IW
            and McGuffin P.
  TITLE     Genome-wide association study of increasing suicidal ideation during
            antidepressant treatment in the GENDEP project
  JOURNAL   Pharmacogenomics J 12 (1), 68-77 (2012)
   PUBMED   20877300
REFERENCE   3  (bases 1 to 3952)
  AUTHORS   Richter K, Brar S, Ray M, Pisitkun P, Bolland S, Verkoczy L and Diaz
            M.
  TITLE     Speckled-like pattern in the germinal center (SLIP-GC), a nuclear
            GTPase expressed in activation-induced deaminase-expressing
            lymphomas and germinal center B cells
  JOURNAL   J Biol Chem 284 (44), 30652-30661 (2009)
   PUBMED   19734146
  REMARK    GeneRIF: SLIP-GC is a replication-related protein in germinal center
            B cells whose reduction is toxic to cells through an AICDA-dependent
            mechanism.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DRR138522.605664.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000413272.7/ ENSP00000408697.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC019031.7, AB075870.1, BU429067.1, CF137482.1, AC091573.8,
            AA482187.1, AK129923.1 and AA768146.1.
            On Nov 22, 2018 this sequence version replaced NM_001010906.1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3952
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.1"
     gene            1..3952
                     /gene="NUGGC"
                     /gene_synonym="C8orf80; HMFN0672; SLIP-GC; SLIPGC"
                     /note="nuclear GTPase, germinal center associated"
                     /db_xref="GeneID:389643"
                     /db_xref="HGNC:HGNC:33550"
                     /db_xref="MIM:619088"
     misc_feature    200..202
                     /gene="NUGGC"
                     /gene_synonym="C8orf80; HMFN0672; SLIP-GC; SLIPGC"
                     /note="upstream in-frame stop codon"
     CDS             209..2599
                     /gene="NUGGC"
                     /gene_synonym="C8orf80; HMFN0672; SLIP-GC; SLIPGC"
                     /note="GTPase SLIP-GC; speckled-like pattern in the
                     germinal center"
                     /codon_start=1
                     /product="nuclear GTPase SLIP-GC"
                     /protein_id="NP_001010906.1"
                     /db_xref="CCDS:CCDS47833.1"
                     /db_xref="GeneID:389643"
                     /db_xref="HGNC:HGNC:33550"
                     /db_xref="MIM:619088"
                     /translation="MAETKDVFGQEPHPVEDDLYKERTRKRRKSDRDQRFRAFPSMEQS
                     ALKEYEKLESRTRRVLSNTYQKLIQSVFLDDSIPNGVKYLINRLLALIEKPTVDPIYIA
                     LFGSTGAGKSSLINAIIQQAMFLPVSGESICTSCIVQVSSGCCVQYEAKIHLLSDQEWR
                     EELKNLTKLLHRTEELSREEADAWNRDEAVEEATWKLQMIYGNGAESKNYEELLRAKPK
                     RKIPTSRVITLKAEEAEELSIKLDPYIRTQRRDWDGEAAEMRIWPLIKHVEVTLPKSDL
                     IPEGVVLVDIPGTGDFNSKRDEMWKKTIDKCSVIWVISDIERVSGGQAHEDLLNESIKA
                     CQRGFCRDVALVVTKMDKLHLPEYLRERKAGNQAIQSQREAVLERNEMIKLQRTRILKE
                     KLKRKLPADFKVLEASDLVYTVSAQEYWQQALLTEEETEIPKLREYIRKSLLDKKKRTV
                     TKYVTEAFGLLLLTDSFNSTQNLPNEHLHMSVLRRFAEEKVELLEKAIAQCFACMEQPL
                     QEGVRTARTSYRCILRACLVRSKGNQGFHQTLKAVCLKNGIYASRTLARIDLNEALTQP
                     VYDQIDPVFGSIFRTGKPTGSALMPHIDAFKQSLQEKMTEIGIRSGWKYDSCKKNFLIQ
                     EISAILGGLEDHILRRKRRIYESLTASVQSDLKLCYEEAAQITGKKACERMKDAIRRGV
                     DRQVAEGMFERAQERMQHQFQQLKTGIVEKVKGSITTMLALASSQGDGLYKELADVGSE
                     YKEMEKLHRSLREVAENARLRKGMQEFLLRASPSKAGPPGTSL"
     misc_feature    209..313
                     /gene="NUGGC"
                     /gene_synonym="C8orf80; HMFN0672; SLIP-GC; SLIPGC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CJ6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3931..3936
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NUGGC"
                     /gene_synonym="C8orf80; HMFN0672; SLIP-GC; SLIPGC"
                     /note="hexamer: AATAAA"
     polyA_site      3952
                     /gene="NUGGC"
                     /gene_synonym="C8orf80; HMFN0672; SLIP-GC; SLIPGC"
                     /note="major polyA site"
ORIGIN
        1 acttctgctg tgtaaacgtg gctttgtgat tgtggcccaa agggctacgt accccagctg
       61 gttccaaata cctgaaccaa ggagaagctg ccaccatctc ctctgtggac tcctgtaacc
      121 aaaccagaac tttttttttt tttttctgtt cagtgacatc tggctggttc tcctgaactg
      181 agaagagcag gagttcacgt aacaaggaat ggcagaaacg aaggatgttt ttggccagga
      241 accgcatcca gttgaagatg atttatataa agaacgaacg agaaaaagaa ggaaatcaga
      301 tcgagaccag cggttccgag catttccctc catggagcag agtgctctta aggaatatga
      361 aaaattggaa tcacggacca gaagggtttt gagcaacact tatcagaaac ttattcagtc
      421 tgtcttcctg gatgacagca tccctaatgg agtcaagtat ctcataaata ggcttcttgc
      481 cttgattgaa aagccgacag tggacccaat ctacattgca ttatttggaa gcactggggc
      541 tgggaagagc tccctgatca atgccatcat ccagcaagca atgtttctac cagtgtctgg
      601 agaaagcata tgtacttcct gcattgtaca agtgagctct ggctgctgtg tgcagtatga
      661 ggccaaaatc caccttctgt ctgaccagga gtggagggag gagctgaaga acctgaccaa
      721 actcctgcat aggacggagg agctgagcag agaagaggca gatgcgtgga acagggatga
      781 ggcagtggag gaagccacct ggaagctaca aatgatttat ggaaatgggg cagagagtaa
      841 gaactatgag gagttactga gggcgaagcc caaaaggaag atccccacct ccagagtcat
      901 caccctcaag gcggaagagg cagaagagct gtccatcaag ctggacccct acatccgcac
      961 acagaggaga gattgggatg gagaggccgc tgagatgcgc atctggccct tgatcaaaca
     1021 tgtggaagtg acacttccca aatccgacct gatcccagaa ggggtcgtgc tggtggacat
     1081 cccaggcaca ggcgacttca acagcaagag ggacgagatg tggaaaaaga ccattgacaa
     1141 gtgctcagtg atctgggtga tcagcgacat agagcgagtt tctggggggc aagcccacga
     1201 agaccttctg aatgagagca tcaaagcctg ccagcggggc ttctgtaggg acgtggccct
     1261 ggtggtcacc aagatggaca aactccactt gccagaatac ctaagggaaa gaaaggcagg
     1321 aaatcaagct attcagagtc agcgagaggc tgttttagaa agaaatgaaa tgataaaact
     1381 acaaaggact agaattctca aggaaaaact gaagagaaaa ctgccagctg acttcaaggt
     1441 tctggaagcc tcagatctgg tgtatacagt cagcgcccag gagtactggc agcaggctct
     1501 cctcaccgag gaggaaacgg aaatccctaa gttaagagaa tacatcagga agagcctctt
     1561 ggacaagaag aagaggacag tgaccaagta tgtgactgaa gcctttggcc tgttgctcct
     1621 cacagatagt ttcaactcca cgcaaaacct gccgaatgaa cacttgcaca tgagtgtcct
     1681 gcggagattt gcggaagaga aggttgagct gctggagaag gccatcgcac agtgcttcgc
     1741 ctgcatggag cagcctctgc aagaaggggt caggaccgcc aggacttctt accgctgcat
     1801 cctcagagca tgcttggtga ggagtaaagg aaaccaaggt tttcatcaga ccctgaaagc
     1861 tgtttgcctg aaaaatggca tctatgcctc caggactctg gcgagaattg atctaaatga
     1921 agccctcact cagcccgtct atgaccagat cgaccctgtt tttggaagca tttttaggac
     1981 ggggaagccc actggttcag ctctgatgcc tcacatagat gcttttaagc agtccctgca
     2041 ggagaaaatg acagaaattg ggataagaag tggctggaaa tatgatagct gcaaaaaaaa
     2101 tttcctgatc caggagataa gtgccatcct cgggggcctg gaggaccaca tcctcagaag
     2161 gaagaggagg atctacgagt ccctcactgc ctctgtccag agtgacctga agctctgtta
     2221 cgaagaggca gctcagatca cgggcaaaaa agcgtgtgag cggatgaaag atgccatcag
     2281 aagaggagtg gaccggcagg tggctgaggg catgtttgaa agggcccagg aaaggatgca
     2341 gcaccagttt cagcagctga agactggaat cgtggagaag gtgaagggca gcatcaccac
     2401 tatgctggcc cttgcttcgt cccaggggga tggcctctac aaggagcttg cagatgtcgg
     2461 gagtgaatac aaggagatgg agaagctgca cagaagcctg agggaggtcg cggagaatgc
     2521 acggctgagg aagggcatgc aagaattcct cctaagggca tcccccagca aggctggccc
     2581 ccccgggaca tcactgtaac tcctggggct tagtcccaat ggatgaaaaa tcagcccaga
     2641 gccagagaat tagaattact ttttttgttc ttaagagaca agatctatct acctctgttg
     2701 cccaggctgg agtgcagtgg caccatcaca gctcactgca gcctcgaact cctaggctca
     2761 agcgatcctc cagcctcagc ctccagagca gctggggcta caggtacagg ccaccacacc
     2821 tgggtaattt tttttttttt ttttttgaga cagagtctcg ctgtgtcacc caggctggaa
     2881 tgcagtggtg caatctcggc tcactgcaac ctccacctcc tgggttcaag aaattctctg
     2941 cctcagcctc ccaagtagct gggattatag gcgactgcca ccacacccgg ttaattttta
     3001 tatttttagt agagacgggg tttcatcatc ttggccaggc tggtcctgaa ctcctgacct
     3061 cgtgatccac ccatctctgc ctcccaaagt gctgggatta cgggcatgag ccaccgtgcc
     3121 cggcccatac ctgggtaatt ttttaatttt ttgtggagat ggcatcttgc tctgttgccc
     3181 agggtggtct caaactcctg gcctcaagtg attctctccc acctcagtct cttgtgctag
     3241 gattgcaggc atgagccatt gtgcctggct cagaattctt tctgttttgt gaaatctaat
     3301 agaggacatt tctcaactat ttggactttg catgcaatat aaaactagta tgtttactgc
     3361 attttatttt atagccccaa agagtcatct tcaataccta atggagttct aaagctttag
     3421 ggcaagaaac ttttgcttcc gcaaaaacat ctaaacatcg ctgggcatgg tggctcactc
     3481 ccgtaatccc agcactttgg gaggctgagg cgggcggatc atgaggtcag gagattgaga
     3541 ccatcctggc taacacagtg aaaccccatc tctactaaaa atacaaaaaa ttagccaggc
     3601 gtggtagcat gtgcctatag tcccagctac ttgggaggct gaggcaggag aatcgcttga
     3661 acccaggagg cataggttgc agtgagccaa ggtcgcgcca ctgcactcca gcctggacga
     3721 cggagtgaga ctatgtctca aaaaaaaaaa aaaaaaaaga aaaagaaaaa aatatatata
     3781 tatacacaca cacacccata cataaaaaaa cttaaacatt atagaaaaaa cattgcacga
     3841 tataaaacaa gccataaaaa gaaattcatc cttcaataaa gaaaaatatc taaacgttga
     3901 aaaacttaag tattatggaa aacattgcaa aataaagctt ttaggaatcc aa
//
LOCUS       NM_001010908            2376 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens complement C1q like 3 (C1QL3), mRNA.
ACCESSION   NM_001010908
VERSION     NM_001010908.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2376)
  AUTHORS   Erbas IM, Paketci A, Turan S, Sisman AR, Demir K, Bober E and Abaci
            A.
  TITLE     Low Complement C1q/TNF-related Protein-13 Levels are Associated with
            Childhood Obesity But not Binge Eating Disorder
  JOURNAL   J Clin Res Pediatr Endocrinol 14 (2), 179-187 (2022)
   PUBMED   35014243
  REMARK    GeneRIF: Low Complement C1q/TNF-related Protein-13 Levels are
            Associated with Childhood Obesity But not Binge Eating Disorder
REFERENCE   2  (bases 1 to 2376)
  AUTHORS   Wang C, Chao Y, Xu W, Liang M, Deng S, Zhang D and Huang K.
  TITLE     CTRP13 Preserves Endothelial Function by Targeting GTP
            Cyclohydrolase 1 in Diabetes
  JOURNAL   Diabetes 69 (1), 99-111 (2020)
   PUBMED   31676569
  REMARK    GeneRIF: CTRP13 preserves endothelial function in diabetic mice by
            regulating GCH1/BH4 axis-dependent eNOS coupling, suggesting the
            therapeutic potential of CTRP13 against diabetic vasculopathy.
REFERENCE   3  (bases 1 to 2376)
  AUTHORS   Wang C, Xu W, Liang M, Huang D and Huang K.
  TITLE     CTRP13 inhibits atherosclerosis via autophagy-lysosome-dependent
            degradation of CD36
  JOURNAL   FASEB J 33 (2), 2290-2300 (2019)
   PUBMED   30222079
  REMARK    GeneRIF: findings define CTRP13 as a novel approach for preventing
            atherosclerotic plaque formation via modulation of lipid uptake and
            foam-cell migration
REFERENCE   4  (bases 1 to 2376)
  AUTHORS   Shanaki M, Moradi N, Fadaei R, Zandieh Z, Shabani P and Vatannejad
            A.
  TITLE     Lower circulating levels of CTRP12 and CTRP13 in polycystic ovarian
            syndrome: Irrespective of obesity
  JOURNAL   PLoS One 13 (12), e0208059 (2018)
   PUBMED   30540803
  REMARK    GeneRIF: Study results indicated that decreased adiponectin, CTRP12,
            and CTRP13 levels, regardless of obesity, could independently
            predict polycystic ovarian syndrome (PCOS). This finding suggested a
            novel link between adipokines and PCOS. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 2376)
  AUTHORS   Gupta R, Nguyen DC, Schaid MD, Lei X, Balamurugan AN, Wong GW, Kim
            JA, Koltes JE, Kimple ME and Bhatnagar S.
  TITLE     Complement 1q-like-3 protein inhibits insulin secretion from
            pancreatic beta-cells via the cell adhesion G protein-coupled
            receptor BAI3
  JOURNAL   J Biol Chem 293 (47), 18086-18098 (2018)
   PUBMED   30228187
  REMARK    GeneRIF: BAI3 mediates the inhibitory effects of C1ql3 on insulin
            secretion from pancreatic beta-cells.
REFERENCE   6  (bases 1 to 2376)
  AUTHORS   Afrookhteh,A., Emamgholipour,S., Alipoor,B., Moradi,N., Meshkani,R.,
            Nasli-Esfahani,E., Rahimipour,A. and Shanaki,M.
  TITLE     The Circulating Levels of Complement-C1q/TNF-Related Protein 13
            (CTRP13) in Patients with Type 2 Diabetes and its Association with
            Insulin Resistance
  JOURNAL   Clin Lab 63 (2), 327-333 (2017)
   PUBMED   28182339
  REMARK    GeneRIF: CTRP13 is a novel adipokine that is down-regulated in the
            serum of type 2 diabetics.
REFERENCE   7  (bases 1 to 2376)
  AUTHORS   Fadaei R, Moradi N, Baratchian M, Aghajani H, Malek M, Fazaeli AA
            and Fallah S.
  TITLE     Association of C1q/TNF-Related Protein-3 (CTRP3) and CTRP13 Serum
            Levels with Coronary Artery Disease in Subjects with and without
            Type 2 Diabetes Mellitus
  JOURNAL   PLoS One 11 (12), e0168773 (2016)
   PUBMED   28033351
  REMARK    GeneRIF: decreased levels of CTRP3 and especially CTRP13 were
            associated with increased risk of T2DM and CAD Publication Status:
            Online-Only
REFERENCE   8  (bases 1 to 2376)
  AUTHORS   Wei Z, Peterson JM and Wong GW.
  TITLE     Metabolic regulation by C1q/TNF-related protein-13 (CTRP13):
            activation OF AMP-activated protein kinase and suppression of fatty
            acid-induced JNK signaling
  JOURNAL   J Biol Chem 286 (18), 15652-15665 (2011)
   PUBMED   21378161
  REMARK    GeneRIF: CTRP13 reduces glucose output in hepatocytes by inhibiting
            the mRNA expression of gluconeogenic enzymes, glucose-6-phosphatase
            and the cytosolic form of phosphoenolpyruvate carboxykinase.
REFERENCE   9  (bases 1 to 2376)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage
            AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G,
            Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T,
            Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S,
            Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T,
            Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N,
            Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall
            M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL,
            Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm
            L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   10  (bases 1 to 2376)
  AUTHORS   Koide T, Aso A, Yorihuzi T and Nagata K.
  TITLE     Conformational requirements of collagenous peptides for recognition
            by the chaperone protein HSP47
  JOURNAL   J Biol Chem 275 (36), 27957-27963 (2000)
   PUBMED   10862616
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.186834.1,
            SRR1803611.209128.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000298943.4/ ENSP00000298943.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL353576.18 and AL360230.20.
            On Nov 22, 2018 this sequence version replaced NM_001010908.1.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2376
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p13"
     gene            1..2376
                     /gene="C1QL3"
                     /gene_synonym="C1ql; C1QTNF13; CTRP13; K100"
                     /note="complement C1q like 3"
                     /db_xref="GeneID:389941"
                     /db_xref="HGNC:HGNC:19359"
                     /db_xref="MIM:615227"
     misc_feature    692..694
                     /gene="C1QL3"
                     /gene_synonym="C1ql; C1QTNF13; CTRP13; K100"
                     /note="upstream in-frame stop codon"
     CDS             815..1582
                     /gene="C1QL3"
                     /gene_synonym="C1ql; C1QTNF13; CTRP13; K100"
                     /note="complement C1q-like protein 3; complement component
                     1, q subcomponent-like 3; C1q/TNF-related protein 13; C1q
                     and tumor necrosis factor-related protein 13"
                     /codon_start=1
                     /product="complement C1q-like protein 3 precursor"
                     /protein_id="NP_001010908.1"
                     /db_xref="CCDS:CCDS31156.1"
                     /db_xref="GeneID:389941"
                     /db_xref="HGNC:HGNC:19359"
                     /db_xref="MIM:615227"
                     /translation="MVLLLVILIPVLVSSAGTSAHYEMLGTCRMVCDPYGGTKAPSTAA
                     TPDRGLMQSLPTFIQGPKGEAGRPGKAGPRGPPGEPGPPGPMGPPGEKGEPGRQGLPGP
                     PGAPGLNAAGAISAATYSTVPKIAFYAGLKRQHEGYEVLKFDDVVTNLGNHYDPTTGKF
                     TCSIPGIYFFTYHVLMRGGDGTSMWADLCKNNQVRASAIAQDADQNYDYASNSVVLHLE
                     PGDEVYIKLDGGKAHGGNNNKYSTFSGFIIYAD"
     sig_peptide     815..874
                     /gene="C1QL3"
                     /gene_synonym="C1ql; C1QTNF13; CTRP13; K100"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    929..1141
                     /gene="C1QL3"
                     /gene_synonym="C1ql; C1QTNF13; CTRP13; K100"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWW1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2050..2055
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1QL3"
                     /gene_synonym="C1ql; C1QTNF13; CTRP13; K100"
                     /note="hexamer: AATAAT"
     polyA_site      2071
                     /gene="C1QL3"
                     /gene_synonym="C1ql; C1QTNF13; CTRP13; K100"
     regulatory      2353..2358
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1QL3"
                     /gene_synonym="C1ql; C1QTNF13; CTRP13; K100"
                     /note="hexamer: AATACA"
     polyA_site      2376
                     /gene="C1QL3"
                     /gene_synonym="C1ql; C1QTNF13; CTRP13; K100"
                     /note="major polyA site"
ORIGIN
        1 ctcctcttct cctggcaggt ggtacccagg cagaattctg ccttcagtct ctctctcgct
       61 ccgctcccgg ccgtgaggcg ctcgccgctg ctcgctcgct cctccgcccc agctctgagc
      121 ctcgccgtgc cgaccgtgcc cgccgccgcc gccgctgggc gcacccgggg gacgcccggg
      181 cccacgcggg gctttggggt gcgcgtctat tcgagttgtg gtggtggcaa aggaggaaga
      241 gagaaaggag gcaataaaaa aaaaaggcag cggacgggcg aactgagcga gcgaaagaag
      301 aggaggagga ggcagaaaaa ggcaacttca gacggaaagt tggtgcgaac aggcgcagtc
      361 tgcaaaaacg gaaaagtcga tcgcaggcgg cggcggcata aaagtgtgag ctgcccgggc
      421 gagctcagga ggcggcggct ggctctgccc tcccggtggc cgcgccggcg ccggctgcag
      481 ccacaggtgc gaaggagctc gcggggggcg agggcgcccc gcgcacccct cccccggccc
      541 ccaccccggg ctcgggactt cggctcaagt cactgggcgc ccgcgctccc tccccagccg
      601 cagcctccgc ggggggagca ggagtcggca gcagcggccg gcgcacgcac gcccagggga
      661 gttggggttc gcagggggtt gttttcggct ctgaagaggt ccccgcccaa ccttcaaaat
      721 tctgtccaaa agcagacaag aggatcgccc cgcgctgagc cggctggtgg gcagcaggag
      781 gcgcctgatc gccgccgggg cgctgggggt ggtgatggtg ctgctgctgg tgatcctcat
      841 cccggtgctg gtgagctcgg ccggcacgtc ggcgcactac gagatgctgg gcacctgccg
      901 catggtctgc gacccctacg ggggcaccaa ggcgcccagc accgctgcca cgcccgaccg
      961 cggcctcatg cagtccctgc ccaccttcat ccagggcccc aaaggcgagg ccggcaggcc
     1021 cgggaaggcg ggtccgcgcg ggccccccgg agagcccggg ccacccggcc ccatggggcc
     1081 cccgggcgag aagggcgagc cgggccgcca aggcctgccg ggcccgcccg gggcgcccgg
     1141 cctgaacgcg gccggggcca tcagcgccgc cacctacagc acggtgccca agatcgcctt
     1201 ctacgccggc ctcaagcggc agcatgaagg ctacgaggtg ctcaagttcg acgacgtggt
     1261 caccaacctc ggaaaccact acgaccccac caccggcaag ttcacctgct ccatcccggg
     1321 catctacttc ttcacctacc acgtcctgat gcgcggaggg gacggcacca gcatgtgggc
     1381 tgatctctgc aaaaacaacc aggtgcgtgc tagtgcaatt gcccaagatg ctgatcagaa
     1441 ttacgactat gccagtaaca gtgtggttct tcatttggag ccgggagatg aagtctatat
     1501 caaattagat ggcgggaaag cccatggagg aaacaacaac aaatacagca cgttttctgg
     1561 atttattatt tatgctgact gataatgcag aaactaagct tattattctg agtttgaaca
     1621 ctggattcgt atggctaacg tcagtgaatc aaggatccca ggggatgcca atggcagggc
     1681 acctcagttg tgtatatgtg gggaaatcaa atgctacctg actcacatct gtatcactca
     1741 gaaacattat gtaaaaaata tcaaagcaag ataagcagat gtgtgatcca ctaccgccaa
     1801 agcaaatact ccttatcgtt agtgtccatg tgaatgaagt cctatataga tcacaaattt
     1861 ttatagacaa atctaagaca ttgaattatt tcttctatat atatgatact ttggtgtact
     1921 gtgatcttgc tgcttttatc catatgtcag ctttggttct tgtgagttta cctgcttatt
     1981 atgatacttg gagtccattc atagtgtggg gaagaatgat ttttgccctg caggagaagg
     2041 tctaattgaa ataatgctgc ttgtccccaa agaaattgtt tgccttgtac tcttgttaac
     2101 cttagagcta gacctgggaa tgattcaact tcaagcctta acctggaatt ttctggattt
     2161 gagggaattc ccaagcctat gatctttttc acattttctt tttcttatat gaattttctt
     2221 ttctctcttt tctggtgata gtctttaaaa atagagattg acagtgtatc ataggattac
     2281 cctctaagtg tgaaaatgtg taattatgta cggtatttag aaaaagccct tatgtgtcca
     2341 ttttgtcaac tgaatacatt tagattcact gggaaa
//
LOCUS       NM_001010909            3651 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens mucin 21, cell surface associated (MUC21), transcript
            variant 1, mRNA.
ACCESSION   NM_001010909
VERSION     NM_001010909.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3651)
  AUTHORS   Liu X, Xiao Y, Xiong X and Qi X.
  TITLE     MUC21 controls melanoma progression via regulating SLITRK5 and
            hedgehog signaling pathway
  JOURNAL   Cell Biol Int 46 (9), 1458-1467 (2022)
   PUBMED   35579188
  REMARK    GeneRIF: MUC21 controls melanoma progression via regulating SLITRK5
            and hedgehog signaling pathway.
REFERENCE   2  (bases 1 to 3651)
  AUTHORS   Matsumura M, Okudela K, Nakashima Y, Mitsui H, Denda-Nagai K, Suzuki
            T, Arai H, Umeda S, Tateishi Y, Koike C, Kataoka T, Irimura T and
            Ohashi K.
  TITLE     Specific expression of MUC21 in micropapillary elements of lung
            adenocarcinomas - Implications for the progression of EGFR-mutated
            lung adenocarcinomas
  JOURNAL   PLoS One 14 (4), e0215237 (2019)
   PUBMED   30973916
  REMARK    GeneRIF: MUC21 proteins with a specific glycosylation status may be
            involved in the progression of EGFR-mutated lung adenocarcinomas,
            particularly at the stage where tumors are transforming from pure
            lepidic to micropapillary through low papillary lepidic lesions.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3651)
  AUTHORS   Kai Y, Amatya VJ, Kushitani K, Kambara T, Suzuki R, Tsutani Y,
            Miyata Y, Okada M and Takeshima Y.
  TITLE     Mucin 21 is a novel, negative immunohistochemical marker for
            epithelioid mesothelioma for its differentiation from lung
            adenocarcinoma
  JOURNAL   Histopathology 74 (4), 545-554 (2019)
   PUBMED   30329165
  REMARK    GeneRIF: MUC21 could be used as an additional, novel, negative
            immunohistochemical marker to differentiate mesothelioma from lung
            adenocarcinoma.
REFERENCE   4  (bases 1 to 3651)
  AUTHORS   Corfield AP.
  TITLE     Mucins: a biologically relevant glycan barrier in mucosal protection
  JOURNAL   Biochim Biophys Acta 1850 (1), 236-252 (2015)
   PUBMED   24821013
  REMARK    Review article
REFERENCE   5  (bases 1 to 3651)
  AUTHORS   Jonckheere N, Skrypek N, Frenois F and Van Seuningen I.
  TITLE     Membrane-bound mucin modular domains: from structure to function
  JOURNAL   Biochimie 95 (6), 1077-1086 (2013)
   PUBMED   23178705
  REMARK    Review article
REFERENCE   6  (bases 1 to 3651)
  AUTHORS   Tian Y, Denda-Nagai K, Kamata-Sakurai M, Nakamori S, Tsukui T, Itoh
            Y, Okada K, Yi Y and Irimura T.
  TITLE     Mucin 21 in esophageal squamous epithelia and carcinomas: analysis
            with glycoform-specific monoclonal antibodies
  JOURNAL   Glycobiology 22 (9), 1218-1226 (2012)
   PUBMED   22611128
REFERENCE   7  (bases 1 to 3651)
  AUTHORS   Hijikata M, Matsushita I, Tanaka G, Tsuchiya T, Ito H, Tokunaga K,
            Ohashi J, Homma S, Kobashi Y, Taguchi Y, Azuma A, Kudoh S and Keicho
            N.
  TITLE     Molecular cloning of two novel mucin-like genes in the
            disease-susceptibility locus for diffuse panbronchiolitis
  JOURNAL   Hum Genet 129 (2), 117-128 (2011)
   PUBMED   20981447
REFERENCE   8  (bases 1 to 3651)
  AUTHORS   Yi Y, Kamata-Sakurai M, Denda-Nagai K, Itoh T, Okada K,
            Ishii-Schrade K, Iguchi A, Sugiura D and Irimura T.
  TITLE     Mucin 21/epiglycanin modulates cell adhesion
  JOURNAL   J Biol Chem 285 (28), 21233-21240 (2010)
   PUBMED   20388707
  REMARK    GeneRIF: Mucin 21/epiglycanin modulates cell adhesion
REFERENCE   9  (bases 1 to 3651)
  AUTHORS   Bafna S, Kaur S and Batra SK.
  TITLE     Membrane-bound mucins: the mechanistic basis for alterations in the
            growth and survival of cancer cells
  JOURNAL   Oncogene 29 (20), 2893-2904 (2010)
   PUBMED   20348949
  REMARK    Review article
REFERENCE   10  (bases 1 to 3651)
  AUTHORS   Itoh Y, Kamata-Sakurai M, Denda-Nagai K, Nagai S, Tsuiji M,
            Ishii-Schrade K, Okada K, Goto A, Fukayama M and Irimura T.
  TITLE     Identification and expression of human epiglycanin/MUC21: a novel
            transmembrane mucin
  JOURNAL   Glycobiology 18 (1), 74-83 (2008)
   PUBMED   17977904
  REMARK    GeneRIF: Identification and expression of human epiglycanin/MUC21: a
            novel transmembrane mucin
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK316363.1, BC105735.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142586,
            SAMEA2147975 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000376296.3/ ENSP00000365473.3
            RefSeq Select criteria      :: based on expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA763771.1, BC105737.1,
            DC373882.1, AK298642.1, BC105735.1 and AL669830.9.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001010909.4.
            Summary: This gene encodes a large membrane-bound glycoprotein
            which is a member of the mucin family. Mucins are O-glycosylated
            proteins that play an essential role in forming protective mucous
            barriers on epithelial surfaces. These proteins also play a role in
            intracellular signaling. The encoded protein contains an N-terminal
            signal sequence, an extracellular mucin domain, a stem domain, a
            transmembrane domain, and a C-terminal cytoplasmic tail domain. The
            mucin domain contains O-glycosylation sites and is polymorphic with
            isoforms containing a variable number of nonidentical proline-,
            threonine-, and serine-rich tandem repeats of 15 amino acids each.
            The aberrent expression of this gene is associated with lung
            adenocarcinoma. [provided by RefSeq, May 2017].
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3651
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..3651
                     /gene="MUC21"
                     /gene_synonym="C6orf205; KMQK697; MUC-21"
                     /note="mucin 21, cell surface associated"
                     /db_xref="GeneID:394263"
                     /db_xref="HGNC:HGNC:21661"
                     /db_xref="MIM:616991"
     misc_feature    185..187
                     /gene="MUC21"
                     /gene_synonym="C6orf205; KMQK697; MUC-21"
                     /note="upstream in-frame stop codon"
     CDS             242..1942
                     /gene="MUC21"
                     /gene_synonym="C6orf205; KMQK697; MUC-21"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; epiglycanin; mucin-21"
                     /codon_start=1
                     /product="mucin-21 isoform 1 precursor"
                     /protein_id="NP_001010909.2"
                     /db_xref="CCDS:CCDS34388.1"
                     /db_xref="GeneID:394263"
                     /db_xref="HGNC:HGNC:21661"
                     /db_xref="MIM:616991"
                     /translation="MKMQKGNVLLMFGLLLHLEAATNSNETSTSANTGSSVISSGASTA
                     TNSGSSVTSSGVSTATISGSSVTSNGVSIVTNSEFHTTSSGISTATNSEFSTVSSGISI
                     ATNSESSTTSSGASTATNSESSTPSSGASTATNSDSSTTSSGASTATNSDSSTTSSEAS
                     TATNSESSTTSSGASTATNSESSTVSSRASTATNSESSTTSSGASTATNSESRTTSNGA
                     GTATNSESSTTSSGASTATNSESSTPSSGAGTATNSESSTTSSGAGTATNSESSTVSSG
                     ISTVTNSESSTPSSGANTATNSESSTTSSGANTATNSDSSTTSSGASTATNSESSTTSS
                     GASTATNSESSTTSSGASTATNSGSSTTSSGTSTATNSESSTVSSGASTATTSESSTTS
                     SGASTATNSESSTVSSGASTATNSESSTTSSGANTATNSGSSVTSAGSGTAALTGMHTT
                     SHSASTAVSEAKPGGSLVPWEIFLITLVSVVAAVGLFAGLFFCVRNSLSLRNTFNTAVY
                     HPHGLNHGLGPGPGGNHGAPHRPRWSPNWFWRRPVSSIAMEMSGRNSGP"
     sig_peptide     242..313
                     /gene="MUC21"
                     /gene_synonym="C6orf205; KMQK697; MUC-21"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     314..1939
                     /gene="MUC21"
                     /gene_synonym="C6orf205; KMQK697; MUC-21"
                     /product="Mucin-21. /id=PRO_0000340102"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SSG8.2)"
     misc_feature    314..445
                     /gene="MUC21"
                     /gene_synonym="C6orf205; KMQK697; MUC-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SSG8.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    314..316
                     /gene="MUC21"
                     /gene_synonym="C6orf205; KMQK697; MUC-21"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5SSG8.2); glycosylation site"
     misc_feature    332..1546
                     /gene="MUC21"
                     /gene_synonym="C6orf205; KMQK697; MUC-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SSG8.2);
                     Region: 28 X 15 AA approximate tandem repeats"
     misc_feature    557..1609
                     /gene="MUC21"
                     /gene_synonym="C6orf205; KMQK697; MUC-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SSG8.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1679..1741
                     /gene="MUC21"
                     /gene_synonym="C6orf205; KMQK697; MUC-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SSG8.2);
                     transmembrane region"
     misc_feature    1745..1750
                     /gene="MUC21"
                     /gene_synonym="C6orf205; KMQK697; MUC-21"
                     /note="Cleavage. /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5SSG8.2); cleavage site"
     misc_feature    1802..1939
                     /gene="MUC21"
                     /gene_synonym="C6orf205; KMQK697; MUC-21"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SSG8.2);
                     Region: Cytoplasmic tail"
     regulatory      2277..2282
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MUC21"
                     /gene_synonym="C6orf205; KMQK697; MUC-21"
                     /note="hexamer: AGTAAA"
     polyA_site      2296
                     /gene="MUC21"
                     /gene_synonym="C6orf205; KMQK697; MUC-21"
                     /note="major polyA site"
     regulatory      3629..3634
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MUC21"
                     /gene_synonym="C6orf205; KMQK697; MUC-21"
                     /note="hexamer: ATTAAA"
     polyA_site      3651
                     /gene="MUC21"
                     /gene_synonym="C6orf205; KMQK697; MUC-21"
                     /note="major polyA site"
ORIGIN
        1 agagaaagag gcaactacat tgcctggagg aagcctaagg aacccaggca tccagctgcc
       61 cacgcctgag tccaagattc ttcccaggaa cacaaacgta ggagacccac gctcctggaa
      121 gcaccagcct ttatctcttc accttcaagt cccctttctc aagaatcctc tgttctttgc
      181 cctctaaagt cttggtacat ctaggaccca ggcatcttgc tttccagcca caaagagaca
      241 gatgaagatg cagaaaggaa atgttctcct tatgtttggt ctactattgc atttagaagc
      301 tgcaacaaat tccaatgaga ctagcacctc tgccaacact ggatccagtg tgatctccag
      361 tggagccagc acagccacca actctgggtc cagtgtgacc tccagtgggg tcagcacagc
      421 caccatctca gggtccagcg tgacctccaa tggggtcagc atagtcacca actctgagtt
      481 ccatacaacc tccagtggga tcagcacagc caccaactct gagttcagca cagtgtccag
      541 tgggatcagc atagccacca actctgagtc cagcacaacc tccagtgggg ccagcacagc
      601 caccaactct gagtccagca caccctccag tggggccagc acagccacca actctgactc
      661 cagcacaacc tccagtgggg ctagcacagc caccaactct gactccagca caacctccag
      721 tgaggccagc acagccacca actctgagtc cagcacaacc tccagtgggg ccagcacagc
      781 caccaactct gagtccagca cagtgtccag tagggccagc actgccacca actctgagtc
      841 cagcacaacc tccagtgggg ccagcacagc caccaactct gagtccagaa cgacctccaa
      901 tggggctggc acagccacca actctgagtc cagcacgacc tccagtgggg ccagcacagc
      961 caccaactct gagtccagca caccctccag tggggccggc acagccacca actctgagtc
     1021 cagcacgacc tccagtgggg ccggcacagc caccaactct gagtccagca cagtgtccag
     1081 tgggatcagc acagtcacca attctgagtc cagcacaccc tccagtgggg ccaacacagc
     1141 caccaactct gagtccagta cgacctccag tggggccaac acagccacca actctgactc
     1201 cagcacaacc tccagtgggg ccagcacagc caccaactct gagtccagca cgacctccag
     1261 tggggccagc acagccacca actctgagtc cagcacaacc tccagtgggg ccagcacagc
     1321 caccaactct gggtccagca cgacctccag tgggaccagc acagccacca actctgagtc
     1381 cagcacagtg tccagtgggg ccagcacagc caccacctct gagtccagca cgacctccag
     1441 tggggccagc acagccacca actctgagtc cagcacagtg tccagtgggg ccagcactgc
     1501 caccaattct gagtccagca caacctccag tggggccaac acagccacca actctgggtc
     1561 cagtgtgacc tctgcaggct ctggaacagc agctctgact ggaatgcaca caacttccca
     1621 tagtgcatct actgcagtga gtgaggcgaa gcctggtggg tccctggtgc cgtgggaaat
     1681 cttcctcatc accctggtct cggttgtggc ggccgtgggg ctctttgctg ggctcttctt
     1741 ctgtgtgaga aacagcctgt ccctgagaaa cacctttaac acagctgtct accaccctca
     1801 tggcctcaac catggccttg gtccaggccc tggagggaat catggagccc cccacaggcc
     1861 caggtggagt cctaactggt tctggaggag accagtatcc tcgatagcca tggagatgag
     1921 cgggaggaac agcgggccct gagcagcccc ggaagcaagt gccgcattct tcaggaagga
     1981 agagacctgg gcacccaaga cctggtttcc tttcattcat cccaggagac ccctcccagc
     2041 tttgtttgag atcctgaaaa tcttgaagaa ggtattcctc acctttcttg cctttaccag
     2101 acactggaaa gagaatacta tattgctcat ttagctaaga aataaataca tctcatctaa
     2161 cacacacgac aaagagaagc tgtgcgtgcc ccggggtggg tatctagctc tgagatgaac
     2221 tcagttatag gagaaaacct ccatgctgga ctccatctgg cattcaaaat ctccacagta
     2281 aaatccaaag acctcattct tatctgtgtg tctgcatttt ctaatccttt ttgccccagg
     2341 caaggtccct gtatctctga gacaccccga ttggctggag aattgacttg ggagagataa
     2401 ggagggaggg cgggtgccag catgctatgg gctcctgcgt gaggcctgtg gtacacagag
     2461 attaggttgt gatacatgaa gagccaagag caggatgagg tggaggcgtt acaactacct
     2521 gctctgtgtg tgggggggga ggggggaggg gggtacgcat attcacttga agtcgaggtt
     2581 cccagggcat ttccatgtgc tccaggcctg actacccatc agggtggagg agctggtgac
     2641 actcatctcc ctgagtgctc cctggtttcc caagggaaag actttctggc ctgctgaggt
     2701 cgaatcttcc aagaggctct tgcaaagacc cgagattctc ataaatcccc gcccagaaga
     2761 gctgcacgta tccctttcat gagtccaggg aagagggtcc tccaggtctt ggaagacaga
     2821 ggggagctgc tttagaggct aagttgcttt gagcccacaa ggtaatggag ggctcctact
     2881 tgggacagag ccctcagcag agaattagca gtctgttggt gggttcaccc caactcacag
     2941 cagtagaaac tgctccatct tccaccactt attgggtttc tccagtgtca gcaaaccaaa
     3001 gaattggatc ttaccaatgc ggctatagga aaacagcctg ttgcatggta agagtgatac
     3061 catcttgaag tgaaaccacc acaatggcca tttttttttt agatggagtt ttgcagtggt
     3121 gcaatcatag ctcattgcag ccttcaattc ctgggctcag gcaatcctcc tgcctcagcc
     3181 tcctgagtag ctgggactac agtttcgtgt gccaccatgc ctggctaatt tttagaattt
     3241 tttgtaggga cagggcctca ctctgttgca caagctggtc ttgaactcct ggcctccttg
     3301 aactcctcct gccttggcct cccaaaatgc tgagattaca ggtgtgagcc actgcacctc
     3361 gccagatgtc caatgtctga ctcctgcata ccaaggtgtt ctgtatcaag ggctttaaaa
     3421 caatgcctgt agcgtaatta acctctcaca aagatgctta tctaacctcc ccagcagtca
     3481 tgggtttcag caagaaagtc tgtgatgtga ccagttgcac atgttttccc ctaaaagctt
     3541 actctagaaa ggatattttt tggagaggga gtgtgggaat ccaccatctt gtggccacct
     3601 cagacatcac ttctctttgg aagactccat taaatatttc tctgtgagaa a
//
LOCUS       NM_001010912            1088 bp    mRNA    linear   PRI 18-APR-2023
DEFINITION  Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.
ACCESSION   NM_001010912
VERSION     NM_001010912.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1088)
  AUTHORS   He J, Su L, Wang W, Li Y, Meng L, Tan C, Lin G, Tan YQ, Zhang Q and
            Tu C.
  TITLE     C9orf131 and C10orf120 are not essential for male fertility in
            humans or mice
  JOURNAL   Dev Biol 497, 11-17 (2023)
   PUBMED   36871790
  REMARK    GeneRIF: C9orf131 and C10orf120 are not essential for male fertility
            in humans or mice.
REFERENCE   2  (bases 1 to 1088)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1088)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage
            AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G,
            Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T,
            Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S,
            Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T,
            Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N,
            Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall
            M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL,
            Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm
            L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.158582.1,
            SRR5189667.349682.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000329446.5/ ENSP00000331012.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL731543.9, BC065903.1 and AL704711.1.
            On May 17, 2019 this sequence version replaced NM_001010912.3.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1088
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.13"
     gene            1..1088
                     /gene="C10orf120"
                     /gene_synonym="bA318C4.1"
                     /note="chromosome 10 open reading frame 120"
                     /db_xref="GeneID:399814"
                     /db_xref="HGNC:HGNC:25707"
     misc_feature    24..26
                     /gene="C10orf120"
                     /gene_synonym="bA318C4.1"
                     /note="upstream in-frame stop codon"
     CDS             57..1064
                     /gene="C10orf120"
                     /gene_synonym="bA318C4.1"
                     /codon_start=1
                     /product="uncharacterized protein C10orf120"
                     /protein_id="NP_001010912.1"
                     /db_xref="CCDS:CCDS31302.1"
                     /db_xref="GeneID:399814"
                     /db_xref="HGNC:HGNC:25707"
                     /translation="MIREWKNDCQRIEKQRASDTMVQERKNEKPVRIFNTNSSFQDQAP
                     TCCQEDLSSASPLRIWSKFYRSDPRIALGKYSPLEKEILRLGGIHTIAARRLLAYKQEE
                     ECRMLKELQLLSPDYKQAMEYKKKHSSPCAICVPLEKIWTAKVIAPLEAFKMPQREQVN
                     VSKHIERMRLARALGNHQPLPYIERFTRSSFLSGVGLGPMAKNKARRKEDNYDTHNCDD
                     ANQDKKEEAEGKNTKRREIKMNVVFKSKEPKKCLTYHGNDRKSFLPAKKPERSIAGLTN
                     RNLFCISEFPGDLMLMNQDFISRRDHFSDLVKTYSLEEESIWKERMRKATPYHY"
     misc_feature    657..764
                     /gene="C10orf120"
                     /gene_synonym="bA318C4.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SQS8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1060..1065
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C10orf120"
                     /gene_synonym="bA318C4.1"
                     /note="hexamer: ATTAAA"
     polyA_site      1088
                     /gene="C10orf120"
                     /gene_synonym="bA318C4.1"
                     /note="major polyA site"
ORIGIN
        1 gtcttagaaa caaactccag gtgtgaacac ctcccgtcct agcttattgc cggagtatga
       61 tcagagaatg gaagaatgac tgtcagagga ttgaaaaaca gagggctagt gacacaatgg
      121 tgcaagaaag gaagaatgaa aagccagtta gaatatttaa taccaactct tcctttcagg
      181 atcaagcccc aacgtgttgc caagaggatc tgagttctgc ttcaccgttg cggatatgga
      241 gcaaattcta cagatcagac ccacggattg cccttgggaa atactccccc ttggaaaaag
      301 agatcctacg tctaggtggc attcacacca tagcagcaag aaggcttttg gcttacaagc
      361 aagaggaaga atgcagaatg ctcaaggaac tacagttgct gtctccggac tacaaacaag
      421 caatggagta taaaaagaaa cattcctctc cttgtgctat ttgtgtaccc ctagaaaaaa
      481 tatggacagc aaaggtgatt gcgcccctgg aggcatttaa aatgccacaa cgagagcagg
      541 tgaacgtcag taagcacata gagaggatga ggcttgctcg ggctctggga aatcatcagc
      601 ctttacccta cattgaaagg tttacacgct cctcatttct gtctggggtg ggcctgggtc
      661 caatggcaaa aaataaggcc agacgaaagg aagacaacta tgacacccat aattgtgatg
      721 atgccaacca agataagaaa gaggaggcag agggaaaaaa cacaaaaaga cgagaaataa
      781 aaatgaatgt agttttcaag tcaaaagaac caaaaaaatg tttaacatac catggaaatg
      841 atcgcaaatc attcctcccc gcaaagaaac cggaacggtc catcgcaggc ctaacaaacc
      901 gaaatctttt ctgcatatca gaattccctg gtgacttaat gctaatgaat caggatttta
      961 tatcacggag agaccacttc agtgatctgg tcaagaccta cagcctggaa gaagagagta
     1021 tctggaaaga gcgcatgcgt aaagcaactc cttatcatta ttaaagtttt atttgttgcc
     1081 cagggtaa
//
LOCUS       NM_001010915            8277 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens 3-hydroxyacyl-CoA dehydratase 4 (HACD4), transcript
            variant 1, mRNA.
ACCESSION   NM_001010915
VERSION     NM_001010915.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8277)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 8277)
  AUTHORS   Jo YS, Kim MS, Yoo NJ and Lee SH.
  TITLE     Inactivating Frameshift Mutations of HACD4 and TCP10L Tumor
            Suppressor Genes in Colorectal and Gastric Cancers
  JOURNAL   Pathol Oncol Res 26 (1), 583-584 (2020)
   PUBMED   29532408
  REMARK    GeneRIF: Inactivating Frameshift Mutations of HACD4 and TCP10L Tumor
            Suppressor Genes in Colorectal and Gastric Cancers.
REFERENCE   3  (bases 1 to 8277)
  AUTHORS   Zivotic I, Djuric T, Stankovic A, Ivancevic I, Koncar I, Milasinovic
            D, Stankovic G, Alavantic D and Zivkovic M.
  TITLE     The HACD4 haplotype as a risk factor for atherosclerosis in males
  JOURNAL   Gene 641, 35-40 (2018)
   PUBMED   29031776
  REMARK    GeneRIF: association of HACD4 haplotypes with atherosclerotic
            phenotypes connotes a further validation and replication in larger
            cohorts as well as functional studies to enlighten the potential
            mechanism of its action in pathophysiology of atherosclerosis.
REFERENCE   4  (bases 1 to 8277)
  AUTHORS   Zhu S, Wang Z, Zhang Z, Wang J, Li Y, Yao L, Mei Q and Zhang W.
  TITLE     PTPLAD2 is a tumor suppressor in esophageal squamous cell
            carcinogenesis
  JOURNAL   FEBS Lett 588 (6), 981-989 (2014)
   PUBMED   24530685
  REMARK    GeneRIF: PTPLAD2 is a potential tumor suppressor and prognostic
            indicator that reduces STAT3 phosphorylation.
REFERENCE   5  (bases 1 to 8277)
  AUTHORS   Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V,
            MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG,
            Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ,
            Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E,
            Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell CE,
            van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R, Tay
            WT, Zheng Y, Chew M, Burdon KP, Craig JE, Iyengar SK, Igo RP Jr,
            Lass JH Jr, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J,
            Simpson CL, Wojciechowski R, Hohn R, Mirshahi A, Zeller T, Pfeiffer
            N, Lackner KJ, Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas
            L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini
            SM, Paterson AD, Makela KM, Lehtimaki T, Kahonen M, Raitakari O,
            Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MK, Meguro A,
            Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai ES, Fan Q, Xu
            L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A, Uitterlinden AG,
            Bencic G, Khor CC, Forward H, Parssinen O, Mitchell P, Rivadeneira
            F, Hewitt AW, Williams C, Oostra BA, Teo YY, Hammond CJ, Stambolian
            D, Mackey DA, Klaver CC, Wong TY, Saw SM and Baird PN.
  CONSRTM   Consortium for Refractive Error and Myopia; Fuchs' Genetics
            Multi-Center Study Group; Wellcome Trust Case Control Consortium 2;
            Diabetes Control and Complications Trial/Epidemiology of Diabetes
            Interventions, and Complications Research Group
  TITLE     Nine loci for ocular axial length identified through genome-wide
            association studies, including shared loci with refractive error
  JOURNAL   Am J Hum Genet 93 (2), 264-277 (2013)
   PUBMED   24144296
REFERENCE   6  (bases 1 to 8277)
  AUTHORS   Ikeda M, Kanao Y, Yamanaka M, Sakuraba H, Mizutani Y, Igarashi Y and
            Kihara A.
  TITLE     Characterization of four mammalian 3-hydroxyacyl-CoA dehydratases
            involved in very long-chain fatty acid synthesis
  JOURNAL   FEBS Lett 582 (16), 2435-2440 (2008)
   PUBMED   18554506
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.149241.1,
            SRR1803617.120925.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000495827.3/ ENSP00000419503.1
            RefSeq Select criteria      :: based on expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY118500.1, BX648779.1, BC114215.1 and AL662879.5.
            On Nov 22, 2018 this sequence version replaced NM_001010915.4.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8277
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.3"
     gene            1..8277
                     /gene="HACD4"
                     /gene_synonym="PTPLAD2"
                     /note="3-hydroxyacyl-CoA dehydratase 4"
                     /db_xref="GeneID:401494"
                     /db_xref="HGNC:HGNC:20920"
                     /db_xref="MIM:615941"
     CDS             51..749
                     /gene="HACD4"
                     /gene_synonym="PTPLAD2"
                     /EC_number="4.2.1.134"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein tyrosine phosphatase-like protein PTPLAD2;
                     very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein]
                     dehydratase 4; very-long-chain (3R)-3-hydroxyacyl-CoA
                     dehydratase 4; protein tyrosine phosphatase-like A domain
                     containing 2; protein-tyrosine phosphatase-like A
                     domain-containing protein 2"
                     /codon_start=1
                     /product="very-long-chain (3R)-3-hydroxyacyl-CoA
                     dehydratase 4 isoform 1"
                     /protein_id="NP_001010915.2"
                     /db_xref="CCDS:CCDS43791.1"
                     /db_xref="GeneID:401494"
                     /db_xref="HGNC:HGNC:20920"
                     /db_xref="MIM:615941"
                     /translation="MGPLALPAWLQPRYRKNAYLFIYYLIQFCGHSWIFTNMTVRFFSF
                     GKDSMVDTFYAIGLVMRLCQSVSLLELLHIYVGIESNHLLPRFLQLTERIIILFVVITS
                     QEEVQEKYVVCVLFVFWNLLDMVRYTYSMLSVIGISYAVLTWLSQTLWMPIYPLCVLAE
                     AFAIYQSLPYFESFGTYSTKLPFDLSIYFPYVLKIYLMMLFIGMYFTYSHLYSERRDIL
                     GIFPIKKKKM"
     misc_feature    108..170
                     /gene="HACD4"
                     /gene_synonym="PTPLAD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWC8.1);
                     transmembrane region"
     misc_feature    219..281
                     /gene="HACD4"
                     /gene_synonym="PTPLAD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWC8.1);
                     transmembrane region"
     misc_feature    387..449
                     /gene="HACD4"
                     /gene_synonym="PTPLAD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWC8.1);
                     transmembrane region"
     misc_feature    456..518
                     /gene="HACD4"
                     /gene_synonym="PTPLAD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWC8.1);
                     transmembrane region"
     misc_feature    522..584
                     /gene="HACD4"
                     /gene_synonym="PTPLAD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWC8.1);
                     transmembrane region"
     misc_feature    618..680
                     /gene="HACD4"
                     /gene_synonym="PTPLAD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWC8.1);
                     transmembrane region"
     regulatory      805..810
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HACD4"
                     /gene_synonym="PTPLAD2"
                     /note="hexamer: AATAAA"
     polyA_site      836
                     /gene="HACD4"
                     /gene_synonym="PTPLAD2"
                     /note="major polyA site"
     regulatory      1077..1082
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HACD4"
                     /gene_synonym="PTPLAD2"
                     /note="hexamer: ATTAAA"
     polyA_site      1100
                     /gene="HACD4"
                     /gene_synonym="PTPLAD2"
     regulatory      4144..4149
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HACD4"
                     /gene_synonym="PTPLAD2"
                     /note="hexamer: AATAAA"
     polyA_site      4165
                     /gene="HACD4"
                     /gene_synonym="PTPLAD2"
     regulatory      8247..8252
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HACD4"
                     /gene_synonym="PTPLAD2"
                     /note="hexamer: AATAAA"
     polyA_site      8277
                     /gene="HACD4"
                     /gene_synonym="PTPLAD2"
ORIGIN
        1 ccccggtact ccttcctgga ccgcgctgga agccctggcg gcggcggccc atggggccct
       61 tggcgctgcc cgcctggctg cagcccaggt ataggaagaa tgcgtatctt ttcatctatt
      121 acttaatcca gttctgtggc cactcttgga tatttacaaa tatgacagtc agattctttt
      181 catttggaaa agattcaatg gttgacactt tttatgctat tggacttgtg atgcgacttt
      241 gccaatccgt atctctcctg gaactgctgc acatatatgt tggcattgag tcaaaccatc
      301 ttctcccaag gtttttgcag ctcacagaaa gaataatcat cctttttgtg gtgatcacca
      361 gtcaagagga agtccaagag aaatatgtgg tgtgtgtttt attcgtcttt tggaatctat
      421 tggatatggt taggtacact tatagcatgt tatcagtcat aggaatatcc tatgctgtct
      481 tgacatggct cagtcaaaca ctatggatgc caatttatcc tttgtgtgtt cttgctgaag
      541 catttgccat ctatcaatcg ctgccttatt ttgaatcatt tggcacttat tccaccaagc
      601 tgccctttga cttatccatc tatttcccat atgtgctgaa aatatatctc atgatgctct
      661 ttataggtat gtattttacc tacagtcatc tatactcaga aagaagagac atcctcggaa
      721 tctttcccat taaaaaaaag aagatgtgaa gtacagcatt ccagtgtgac acgagaaaag
      781 acaggctgtg gattcagtgc agtaaataaa acacaggaag tattctggtg gaaaaatacc
      841 ttgtatttga taaaaatcca ttacatgaaa taactgcaca tacccccaaa actctagaca
      901 taacaggcta tgtttttcac acattgtatt tttaagacat atatattctc cataccctgc
      961 ttcaccaaaa ttcctgcttc atttggattt tatacaagtt atacttacat tgtatgaagt
     1021 ctgattattt tcctgtaagt ttaatgagaa ataggagatt agctgcaata gattcaatta
     1081 aattaagaaa ccaaacttga taacctaaat tacatgtatt ctttttcact tccaagttcc
     1141 caaatagatc tgtaggagaa gagggatgga aaatatattc cacagttgcc tagaataaca
     1201 tatttcatag acagatgtct gtcttcagat ctaataatac tcaccctaaa cattagatat
     1261 gtttagaaaa ttaaatatct ttccaagccc tatgtcttag ctcaggttgc tataatagaa
     1321 caccataaac cgaatggctt aaacaacagc aaacgcttct cacagttctg gaggctggga
     1381 attccgctca ggatcaaggc atcagctaat gcagtttctg gtgagggccc tcttcccagt
     1441 ttgcagatag atgtccttct ttgtcctcac atgagagaga gatcaactct cttatgtctc
     1501 ttataatggc actaacccca ttcatgaggg ctctaccctc atgatctaat tacctcccaa
     1561 tggccccacc tccaaatacc atcatattgg aggttagggc ttaacacatg aattttgggg
     1621 gaacacaaag attcactcca tagcattctg tacctggtcc tacaaaattc atgtcctcct
     1681 cacatgcaaa atacatacat tccatctcga cagcctcaaa agtcttaact cattcctgca
     1741 tcaactctaa agtccaaagt ctcgtctaaa tcagatgtgg gtgagattca aggtagaatt
     1801 catcctgagg taaaattcct ttccagcttt gaacttgtga aatgaaacaa gttatgtgct
     1861 tccacagtac aatggtggga cacacaaagg gtggacattc ctattcccaa agcaagaaac
     1921 aggaaaaaag gaaggtgtaa tgggtcccca gcaagtccaa aacctagcaa ggcaaacacc
     1981 atgagatctt cagtcttagt aataatcctc tttggcctga tactctggct tcaggaccca
     2041 gtgaggcaga ggtattgccc ccaggactat gttggaggag gatgaccccc atatcaccag
     2101 gcggaagctg tcaggcctgt tgaaaccaag gcaatgactg ccccttttga aactgagaag
     2161 gtaccactga tgttctctga atcattgttc cgggtcagtt tctccttttc ttgaagaata
     2221 gtgtacattc acagctgaat agctctatgg tcccaaattc aagaagtcca acagtcttcc
     2281 ctcattctgt cccatctcca ttcctttcaa tacaaactag cagtgttcct gctggggtgg
     2341 ctgattaggt ctgtggttca cacccacata aatctaattg gatgacttgt ctgctacact
     2401 cttagtgttc tctaccaaac gtgttttctt atctttttgt aatgcagaca gactgataat
     2461 ttcccacatc ttttaagttc tggttccgtt tttgttaaga attctgtctt cattttttgt
     2521 cacattttac tttaagcagt caagataaac cgaggcactc cttcaacact ggttggagat
     2581 ctcttcagtt caatatctaa tttcatggct cacaatttta ctttccacaa aacactagaa
     2641 catgaacaca atcatccaag ttctttggca tattataaca aagatcacct ttcttccagt
     2701 ttcccataac aggttcctca ttttcatttg agacttcatc agaatggcct ttattgtcca
     2761 tgtctaccaa cattatcttc atggtgattt acgtgttctc tatgaagatg gaggctttct
     2821 ctcccaccct cttctctttg agccctcacc aaaatcacct ctatcaatcc cttcatggca
     2881 atactggctt tttctagcaa aaaaactagt acctcaaaac tcttccagta ctcttccagg
     2941 tactctagta cctcaaaact cttccagctt ctatctgtta cctaacgtca aagctgcttc
     3001 cacatcttta tatattggtt atagcatcac cacacttctt ggtactaatt gctgtcttag
     3061 cttggctgct ataacaaaat accataaact gggtggctta gacaacaaat atatttctca
     3121 cagttctgga ggcagggaag tccaagataa aggtgctaga caattaagtt cctgatgagg
     3181 ttccaaggtg ctagctgatt cttcttcatg gtttgcagat gaatgccttc ttgctatatg
     3241 ttcacatggt ggagggagaa accatctctc ccttatttct tattgtaaag gtactaatcc
     3301 catttatgaa ggttccagct tcaaatgcca tcacactgga gattagattt tcaacatgtg
     3361 aatttaatgg gggacaccag cattcagtcc ctagtgctct gatagagtat tcattaatgt
     3421 catgtatttg ttaacatctt gtaagttatt tgggctttga tgccttaaaa gaagaccctg
     3481 gccaggcatg ctggctcata cctgtaatcc tagcactatg agaggctgag gtgggcagat
     3541 cagttgaggt caggagttca agaccagcct ggccaacatg gtgaaacccc atttctacta
     3601 aaaatacaaa aattagccag gcatggtggc gcatgcctgt aatcccagct acacgggagg
     3661 ctgggggcat gagaatcgct tgagcccagg agatggaggt tgcagtgagc agagattgag
     3721 ccactgcact ccagcctggg tgacagagtg agactctatc tcaaaagaga agaccctaat
     3781 gaaaatagta aacctttagc aaatacacaa atgatgcccc attctgtatt ctttttaatt
     3841 ttaaaaataa tgacacacac atacaggaag ataaaaggta taaaaatata ctaagtactt
     3901 tttaaaaagg aaaattcatg ttttggatta ttactgaatt gttgctaatt actgtaatgt
     3961 aagtcatatg tccttacata gttttgaaaa atgctttctt tgaaaatcta aaaaaagtgt
     4021 gaataactga tagtcattgc tgtatcattg atgtatcact caatttttgg taaagaatta
     4081 taaagatctt acctagaaac tatgtaaaaa ggtattaaat atattgtgat gtaagaatag
     4141 gataataaaa atgtaatttt aaaaatgggt aacttatttc cactaaagaa aacatttgga
     4201 aagaaacaat tgagtattag gctacttgaa atctttataa atatatttgg attttaaaaa
     4261 attatccttt taaaaagcta cattttttct gcttttatag ttatcttcta aatttcagaa
     4321 aaattatgaa aagctttagt gtgcaaggag aacataaacc ctttgcaaat tttaggtgag
     4381 ttaatcttaa tcactccaaa taaagatggc tccttacact gccgaagtac atgtacaatc
     4441 aatcactaaa acaaagagaa aattagagaa actacacttt actgggtcat tataataaat
     4501 taaaatttca ttattaaata atgctttaat tttttaaaac cagattaact taaaaacttc
     4561 ttaaaattga aaaccaaaag aaacacaagt gaatttataa ttattttaaa acagaaatga
     4621 ggattgacag taatttgaga tatctgcaac aattgtaaca taaaaagatc ttacatttcc
     4681 tttggtgaca gacacaattg ttaatactac tgtggttggt tgcctgtatt cacaatggaa
     4741 aggaatacta aatttcatta tcaattagtg aaaataaagg tgtaatttct ttttctactt
     4801 aagtacatgt tccccaggtt aagaaaccca gacatagtga agtcaagaca gtaactatct
     4861 ggttaatcgg atgttaccaa aatcgcaaag ttgatgtctt tgactatctg tcttaactgt
     4921 atgttcacca aatccctatt tcattttgta cagtgtagac aaaggcttac tttctcaaat
     4981 ctaagtaaca tagatgaaat aggaaccatt agatattttg aaaacatatc taagacaact
     5041 tttttcagta atttttttat tgtggtaaaa tgtaaaatat actatcttat tcctttttaa
     5101 gtgtgcagtt cagtagtagt aagtaattta tattgtgcaa ccatcaccac tgtccatctc
     5161 cagaactttt tttaccttgc aaaacttata ccctatactc attaagcaat ggttccctat
     5221 tctcccatct gccctgtccc tggcaaccac cagtctactt tttgtctcta tgattttgat
     5281 tgctctaagt acctcatata aatgtaatca tacagtatct gtctttcgta attggcttat
     5341 ttcacttagc ataatgtctg caagtttcct ccattttgta tatgtcagaa ttttcttcct
     5401 ttttgaggat gactgataag gagggactta ctcctgtcat tttgctattt gttttctaca
     5461 tagcttagct tttttgtccc tcatttcctg cattacgtct tttgtgtgta gtttactttt
     5521 ttatagtgaa gcatttaagt atctttctca gttcttttgt gtatattctg tagctgtttt
     5581 ctttgtggtt accatagggt gacatttaat atccggaagg taatttggac ttatgccagc
     5641 tgaacttcaa aaatatacaa aaattctgct ctttatatct ctgtctatca ctcctttaag
     5701 tttcacaaaa ttatatacac tgtgtgtcca aaatcaattt ttaaaaatgc agtagtctct
     5761 atgtagaaaa caaaaagtgg agttacaaac cattgttaca aaagtactag attttataat
     5821 tgcccatgta tttttcttta ctgagatcct tatttcttca tgtggctttg agttgctgtt
     5881 tagtgtcttt ccatttcaac ttgcaggacc cctattagca tttctggcag gggcaggtct
     5941 agtggtaaca tactttctca gcttttgttt atctggggat gtcttaattt ctctctcacg
     6001 tttgaagaac agttttgtca aatacaggaa atgtggttga tgatatattt ttttcctaac
     6061 actttgaata tgtgagctca ctgcattctg gcctccaaag tttctgatga gaaatctgat
     6121 aatcttatta aggatcactt atatgtgatg aattgatttt ttcatgctac tttcaagatt
     6181 ctctttctgt ctttggcttt tgatagttgt gtggatctct tggaattcat tctacttgga
     6241 gtttgttggt cattatctgg ctgttcttca aatattctct ctgctccttt ctttctctct
     6301 tttccttctg ggatcctcac aatgtgtatg ttggtctgct tgatgggtcc cacagatcct
     6361 tataccctgt tcactttttt ccaatttttt tctattgctc agactaataa tttccattgt
     6421 cctattttca tgtatactga ttcttctgct gcccaaatct gcctttgaat acctctagtg
     6481 agtttttcat ttcaattatc gtactttcca gctcttgaat ttcttttttg tatcgtctta
     6541 gattttctct atattgatat taccattttg ttcatccatt ggttttttga ctttttccgc
     6601 atgctctttg gttctttaaa aaacatcctt aaggcagtcg ttgtagagcc tttagtggat
     6661 ccaccatcaa gtctttttca gagatagttt ttgtttttgt tttcatttga aagggacata
     6721 ctttcctgtt tctttgtatg ccttgttatt tttttgctga aaactgaacg tttcaatcta
     6781 ataatatggt aactacatct cactaaggtc cctaagttaa tgtttttttt taaactattc
     6841 cttactttgc ctgccttgag caagttgtca aatgtgagaa actgtattta tttcagaagt
     6901 acaaatagat acaatctcaa tgtccaaaat atttccccaa agaaagaatc ttacaattat
     6961 ttaagtttac ttatggagaa aacattttat ggtactaaag tgttaaagtg atttaaaatt
     7021 aaggttaaaa tatgctaaaa attatcttcc tttacccagt atctatcttc cacttgttta
     7081 ttactgcttt ttaataatta taatgtttcc cgttggttcg gataatttta atattcttct
     7141 cggtctgagt tatatgctaa tgttgatatg acatggttct ccagggtagt gttcagattg
     7201 tatgttcagg gagcaacagc cacaattaac aagttcacct gtttagaatg cagattccag
     7261 ggctccacta aagatagttg aatcagaagc tctgggaata agctcaggat cctacctttt
     7321 gatagactcc tcaaatgagc ctcatgcaca gaaaagtttg agaaccactg cttttgagtc
     7381 taaattattt cagctttgga cagaaagaaa actgctaaaa agaactactt atataaaagc
     7441 caccaatgtt ttcagaacag ggatgatttt ttatggcttt aaaaatcctt aaatagtagt
     7501 tctgaacatg tttttaacat gccaagtaag aattactaac tagtttattt ttgctaaggg
     7561 tagctggagt tttaaatctc atctaaaata aggttagtta attccatatg aaagtcaatt
     7621 agtaaaagta tgccttaatt catcacatac atgtaggtgt ctattgttac ttcatggtat
     7681 tcagctgaat gatggggttc ttgtgaaaga taatgtggtc tggaattaag agcactaggt
     7741 ttgatttgag atcaagctcc attatttact aactgaatga ctctttgagt tccagtttcc
     7801 ttaaccactt aaagttatta tgaagactaa atgacatatg gtaaattaaa cttttgcaaa
     7861 ttataaaggg ctttgcagaa gtaggacatt tataacatgt tctgttctta cttcatgatg
     7921 gtttagtgat ttatattctc tgactgtaag ttccatgaga gcagggatga cacgttttgt
     7981 tcagattgta ccccagaaac ttgtatagtg gcacataata gacacccata attgtgtgtg
     8041 caactctatc tttaaagaac gccactacta catctagaaa tatatttcaa gaaatctatc
     8101 ggcttaatta ggtaatgaat ttcaattgta tctcaaagcg ttccttatat ttagaagaca
     8161 cataagtttt gtttttttct ttcaacttat ataagtatct taacatgcta cttctagaat
     8221 attttaattg ttaagaacaa tttcttaata aacttccact gtcttcctga gtcccca
//
LOCUS       NM_001010917            6843 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens golgin A7 family member B (GOLGA7B), mRNA.
ACCESSION   NM_001010917
VERSION     NM_001010917.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6843)
  AUTHORS   Say YH, Sio YY, Heng AHS, Ng YT, Matta SA, Pang SL, Teh KF, Wong YR,
            Rawanan Shah SM, Reginald K and Chew FT.
  TITLE     Golgin A7 family member B (GOLGA7B) is a plausible novel gene
            associating high glycaemic index diet with acne vulgaris
  JOURNAL   Exp Dermatol 31 (8), 1208-1219 (2022)
   PUBMED   35416335
  REMARK    GeneRIF: Golgin A7 family member B (GOLGA7B) is a plausible novel
            gene associating high glycaemic index diet with acne vulgaris.
REFERENCE   2  (bases 1 to 6843)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 6843)
  AUTHORS   Woodley KT and Collins MO.
  TITLE     S-acylated Golga7b stabilises DHHC5 at the plasma membrane to
            regulate cell adhesion
  JOURNAL   EMBO Rep 20 (10), e47472 (2019)
   PUBMED   31402609
  REMARK    GeneRIF: This work uncovers a novel mechanism of DHHC5 regulation by
            Golga7b and demonstrates a role for the DHHC5/Golga7b complex in the
            regulation of cell adhesion.
REFERENCE   4  (bases 1 to 6843)
  AUTHORS   Simino J, Shi G, Bis JC, Chasman DI, Ehret GB, Gu X, Guo X, Hwang
            SJ, Sijbrands E, Smith AV, Verwoert GC, Bragg-Gresham JL, Cadby G,
            Chen P, Cheng CY, Corre T, de Boer RA, Goel A, Johnson T, Khor CC,
            Lluis-Ganella C, Luan J, Lyytikainen LP, Nolte IM, Sim X, Sober S,
            van der Most PJ, Verweij N, Zhao JH, Amin N, Boerwinkle E, Bouchard
            C, Dehghan A, Eiriksdottir G, Elosua R, Franco OH, Gieger C, Harris
            TB, Hercberg S, Hofman A, James AL, Johnson AD, Kahonen M, Khaw KT,
            Kutalik Z, Larson MG, Launer LJ, Li G, Liu J, Liu K, Morrison AC,
            Navis G, Ong RT, Papanicolau GJ, Penninx BW, Psaty BM, Raffel LJ,
            Raitakari OT, Rice K, Rivadeneira F, Rose LM, Sanna S, Scott RA,
            Siscovick DS, Stolk RP, Uitterlinden AG, Vaidya D, van der Klauw MM,
            Vasan RS, Vithana EN, Volker U, Volzke H, Watkins H, Young TL, Aung
            T, Bochud M, Farrall M, Hartman CA, Laan M, Lakatta EG, Lehtimaki T,
            Loos RJ, Lucas G, Meneton P, Palmer LJ, Rettig R, Snieder H, Tai ES,
            Teo YY, van der Harst P, Wareham NJ, Wijmenga C, Wong TY, Fornage M,
            Gudnason V, Levy D, Palmas W, Ridker PM, Rotter JI, van Duijn CM,
            Witteman JC, Chakravarti A and Rao DC.
  CONSRTM   LifeLines Cohort Study
  TITLE     Gene-age interactions in blood pressure regulation: a large-scale
            investigation with the CHARGE, Global BPgen, and ICBP Consortia
  JOURNAL   Am J Hum Genet 95 (1), 24-38 (2014)
   PUBMED   24954895
REFERENCE   5  (bases 1 to 6843)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage
            AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G,
            Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T,
            Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S,
            Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T,
            Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N,
            Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall
            M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL,
            Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm
            L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC110810.1, BI754810.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370602.6/ ENSP00000359634.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL358938.8, BC110810.1, DN831741.1, BQ950672.1, BI754792.1,
            BC008047.2, AW172573.1, BM713854.1, AK125454.1 and CA308047.1.
            On Nov 22, 2018 this sequence version replaced NM_001010917.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6843
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     gene            1..6843
                     /gene="GOLGA7B"
                     /gene_synonym="bA451M19.3; bA459F3.4; C10orf132; C10orf133"
                     /note="golgin A7 family member B"
                     /db_xref="GeneID:401647"
                     /db_xref="HGNC:HGNC:31668"
                     /db_xref="MIM:614189"
     misc_feature    150..152
                     /gene="GOLGA7B"
                     /gene_synonym="bA451M19.3; bA459F3.4; C10orf132; C10orf133"
                     /note="upstream in-frame stop codon"
     CDS             462..965
                     /gene="GOLGA7B"
                     /gene_synonym="bA451M19.3; bA459F3.4; C10orf132; C10orf133"
                     /note="golgi autoantigen, golgin subfamily a, 7B"
                     /codon_start=1
                     /product="golgin subfamily A member 7B"
                     /protein_id="NP_001010917.1"
                     /db_xref="CCDS:CCDS31265.1"
                     /db_xref="GeneID:401647"
                     /db_xref="HGNC:HGNC:31668"
                     /db_xref="MIM:614189"
                     /translation="MATEVHNLQELRRSASLATKVFIQRDYSDGTICQFQTKFPPELDS
                     RIERQLFEETVKTLNGFYAEAEKIGGSSYLEGCLACATAYFIFLCMETHYEKVLKKISR
                     YIQEQNEKIFAPRGLLLTDPVERGMRVIEISIYEDRCSSGSSSSGSSSGSGSSSGGGGG
                     AGAR"
     misc_feature    879..962
                     /gene="GOLGA7B"
                     /gene_synonym="bA451M19.3; bA459F3.4; C10orf132; C10orf133"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2TAP0.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2989..2994
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GOLGA7B"
                     /gene_synonym="bA451M19.3; bA459F3.4; C10orf132; C10orf133"
                     /note="hexamer: AATAAA"
     polyA_site      3013
                     /gene="GOLGA7B"
                     /gene_synonym="bA451M19.3; bA459F3.4; C10orf132; C10orf133"
     regulatory      3271..3276
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GOLGA7B"
                     /gene_synonym="bA451M19.3; bA459F3.4; C10orf132; C10orf133"
                     /note="hexamer: AATAAA"
     polyA_site      3290
                     /gene="GOLGA7B"
                     /gene_synonym="bA451M19.3; bA459F3.4; C10orf132; C10orf133"
                     /note="major polyA site"
     regulatory      6781..6786
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GOLGA7B"
                     /gene_synonym="bA451M19.3; bA459F3.4; C10orf132; C10orf133"
                     /note="hexamer: AATAAA"
     polyA_site      6801
                     /gene="GOLGA7B"
                     /gene_synonym="bA451M19.3; bA459F3.4; C10orf132; C10orf133"
     regulatory      6819..6824
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GOLGA7B"
                     /gene_synonym="bA451M19.3; bA459F3.4; C10orf132; C10orf133"
                     /note="hexamer: AATAAA"
     polyA_site      6843
                     /gene="GOLGA7B"
                     /gene_synonym="bA451M19.3; bA459F3.4; C10orf132; C10orf133"
ORIGIN
        1 ggggcggtag ccgagcctgt ggcccgggcg gggctcctct ccggcggcgc cggagtctgg
       61 gggccgcggc ttccccctcc cggccagcgg cggctcctgg cccctcctcc cccggccgcc
      121 cccatccccg ccgccgccgc cgccaaagct aaacccggcc gttgcctgca ggagccgcgg
      181 cagcgggcga tcgggccgtg aggagcctcg ggcgcggcct cgcctcccgg gcccggcgcc
      241 tgcctcagca cagcggacag cgccgcgccc cttgcctgga cccagccgcc cgcccgcccc
      301 cggcccacct gagcccgggc ccgcggcgcc cgcatcagca ctgcggacag cgccccgggc
      361 cccagctcgc cgccaccgcc gccgcccacc tgctcccggg gtcagcaccg cggagacccc
      421 cctcgcccgg ccccgcgaca gcctccgagc gcccccggat catggccacc gaggtccaca
      481 atctgcagga gctccggcga agtgcctcac tggccaccaa ggtctttatc cagagagact
      541 acagcgatgg gaccatctgt cagttccaga ccaaattccc cccagagctg gacagccgga
      601 tcgagcggca gctctttgaa gagactgtga agaccctcaa cggattttac gcagaggctg
      661 agaagattgg gggcagctcc tacctcgagg gctgcctggc ctgcgccacg gcctacttca
      721 tcttcctctg catggagacc cactatgaga aggttctcaa gaagatttcc cgctacatcc
      781 aggagcagaa tgagaagatc tttgcacctc gaggcctcct acttacagac cctgtggagc
      841 gtgggatgag ggttattgag atctccatct acgaggaccg gtgcagcagt ggcagctcca
      901 gcagcggcag cagcagcggc agtggcagca gcagcggtgg gggtggtggg gcgggggccc
      961 ggtgactggc cgagagtccc tgtagggagg tgtatggccg gagtgagggc cttgcagacc
     1021 tgcggcggct gcgctaccag agcacccgct tctgagtcat tctttgggct caccctgctg
     1081 cccggggtgg gagggagggt gacgggcctc atatttcctg tgggccatca acctatgccc
     1141 cctgtccctc acccccgtct ggatcagtcc atttcctgac ctgggggctt ttccttcccg
     1201 atggggctgg tctgggccac acagagacag atcttcctag gaaggctggg gtggggagaa
     1261 cacaacctag gcggcccctc tcttccacag cccctctccc aaccctgcga ggggggccga
     1321 ggcctgccac atagaggact cccacactgc atgacccctc atcccaaacc catatccacc
     1381 aggactcttt cccttgggcc ctgcgtcccg tggctgtctc ccagtatctg ttccttctca
     1441 tgcccctgca gggccccggc ctgtctatga tcctgcctcc accaaattca aggtgtgggg
     1501 agacgggtgc cgtggttggg agctgttcag cgcactcctg acctcttcta gacctatggc
     1561 tttcctgtcc tgcattcaga gctagaggcc agctcggcct tgcgagaagc atccaacttt
     1621 gagactttgc aggctgccag gtgctggttg gggggcacag agcctggggc tctgggaggt
     1681 aatatggggg tctgggaaac tccgtgaaga gacatagcca tgcggggcct gaatctcctg
     1741 aactacagcc agtttcctga gattagaacc tgtgtgtatg cacatgtgaa tgtatgtgtg
     1801 agtgcacatg tgtgtaagtg cagtgtgcgt aaatgtgtga gtctgcgtgt gttagcatgc
     1861 ctgtatgtga gcgcgtgtgt gagcgcatgt gtgtgcacca gtgcacaagt gtatgaatgt
     1921 ggacacattt ataagcacac ctgtgtgtgt ctgagtacat gtgcacacac gtgtgcacaa
     1981 atgtgcattt atatgagtgt gagtgcatgc atgtgcatga acatgtgtgc acaagcatgt
     2041 gtgtatgagt gttcatgtgt atgagtgtgt gtgtatgcag gtgagtgcat gtgtgtgtga
     2101 gtgtgtttgt gtgttcccct tggctgccag gccaacgact gcttctctgc atcctgctgt
     2161 cttcgctacc tgagggtctg tgacttcttc cctgtgtggg tccagcctga ccccctgtaa
     2221 gtaaatgtcc aaaagcccct tgcccctccc ctagggctac cagggaacat actctactgc
     2281 atatgttcta gtggaagaga agccggggtt ctaggaaaga agagccaaac tttggtggcc
     2341 tttggtgccc cctctcagct ccccatgaca agacaacggg gctgcagaca ctgtgtgttc
     2401 agcctgccca ggggctgggg ctctttaagg ctttgtaggt gaggtttcca tggaccttca
     2461 aaggtgccag cagcctgcag gggaaaggca aactccctcc ttgcaaggaa aggagatgtc
     2521 cagccaatga tgcccggctt ctgaggccca gaggagcagg tgggatggga gcagcccctg
     2581 gggctggtgt cccgaagatg aaatgaaggg ggctgcctat ctcagttggc gggaggtgtt
     2641 agaagtggat gtgcaagacc agccactgga ggtagctctc tggagtcaaa gagaggcctg
     2701 cttttctacc agacatggga gcagcatgta ggatacaagg gcctacccag agaccagaga
     2761 gagtcagcct agtccttgca gcctcaggaa gtcctcggcc caagtgagtc ctggtccaag
     2821 gatccccctg gagagccgca gttcagtggg ctccaccgca gcccctggcc acggcctatg
     2881 ccctccctgg gcccctgtgg ggctgggcat tgtgtctgac ctgtgcatct cccatgggag
     2941 ggctgggcac aggcagtgct atggcctttt tttttttttt ctttttccaa taaaagaact
     3001 tgcccagcgt gaagctctgt gatgctttct ctgccccgtg acgatggagg gtcagttcta
     3061 tgctccagga ccacatgagg ggatactcag ctgcctgaac tggacctgac atggggagca
     3121 ggatgaactc tgtcttcttg gagcttgcag tctactgaag aggcagacac ctcagcatct
     3181 ctaatctgga atctttgggg cacttgtagc cttgggtggg ggaacaggtt ggactgaaag
     3241 cgaggccaaa agtaatcaat taatgatatc aataaatcct catttcttga gctcttcccc
     3301 tgggttgggt cctgttggga gctggatcac acaggtcact cagtactgaa gatgagaaag
     3361 tagctggatg atcacttctc ggccttttgg ccaagatcaa atatggagaa agtagctgga
     3421 tgttggaacc tagcagagtt gtgtcttgaa ttttataatt tattgagcac ctactatgtg
     3481 ccagatactt tgctgaaacc atatgttaga gctggcaggg gatttaaaga tcacttgaat
     3541 cctgtcacag aggtccagag agggtgggtg acttgcccta ggccacacag ctggttgatg
     3601 ataacagggc ccaagcttgg aacccaggtc tcctgactca gtgcccactc tgttaccaca
     3661 gggatggcac ccagatggga agctgcctga ggctgcaggg aggctgggat cacaaactca
     3721 ggcctgttcc cagagagggg ctcatcagac tgtggggaca acggctccag cctcttaggt
     3781 gggggctggg cagtcccctc tgggtggttc tcatgtttgt tgtcactgcc gctaagggct
     3841 gcagtgagct gtgtgcagcc tggactcact ccctctgctg gaacctgggc cgtgtgtggg
     3901 ttgccacaag tgagcgtgtt ctctaatatg agggcaggtt cattctgttt tgggatagga
     3961 agtttgttct accccgaggc cagatttgaa tccaaactca gctcttctag agatgaggtc
     4021 ctggggaggg ggtgaggatt tactaaacgg gtaaaaccaa atctgggtgc ttatctgact
     4081 gagaggcatt caacccttcc attttcaaat ggtaatcata ataataatag tagctgacgt
     4141 ttatttagca cttcctatgt gccaggcact aggctaagac tctacataat tagtcattca
     4201 attctcacag caaccctcta tggcatggat tcttatttcc cattttacat atggggaaac
     4261 tgaggctcat ggacgttaag taactgggaa attgcagatc ttggctttga atctaggcaa
     4321 tctgactcca aactgcaagg aagaagacag atccagcctc agaggccgct taacagcttg
     4381 agggcctcag ccgtcctggg attaggatca ggcagattcc cagggaagga cttggagcca
     4441 tgcctgggtt ttgaggccgg gctggcacct ccacttccag ggcatcacgg gagggtgcat
     4501 gggctgtgct cgcaggcatg cgggacccag aggcagcccg gtgaagggta gtgggggact
     4561 cgactcactg tgggcctggg gaggtgtggt ttctctctgc tggcttagtt acaggtggtg
     4621 gcctgtctct ccggggtctg gctgtagcca tgtccctgca cccaccttgc cagccaggga
     4681 caggccccat caagacccag gagcagctcc agcctcagcc agactgtccc cgaggtccca
     4741 agtgaggccc cagccactca ggcatgcctc aggaagctcc tgctgcacat gctcctctcc
     4801 ctgcgccagc accctgctgt ctggcttcct tcctttggcc acagggcggg tgtgtgtgaa
     4861 accacagggt ttacagaagc tcgaggtgcc actgagtggc aggattatgc actgcactcg
     4921 gggaatcaaa ggtggagaca gaaagaacta tggctgttgt gacacgtccc ccacggctcc
     4981 ccggttggca gccactgcca cccgcaggga cttttctgtg gcttccagag gtgtggggca
     5041 aaggtggagt ctggtgactt tctccctagg gccagcccct gggctgtcga gcctgggaaa
     5101 ctccacatcc ctctccacac ctctagaagg actcacaatg aggggggccc agacaggagg
     5161 catcaccacc tggtttgggc tttaccattc acccagggat aaggcaaggc aaacaccact
     5221 ccacatcaga tctgaatttg agctctggct tcatgacact gacacatgaa gactcttgga
     5281 gcctcagatt ccccagttgt taaataggga gactaatatc tcacagagtt gtttagaccc
     5341 gaggcgttca accttggtgg caatggatgt caactggaag catgaaaaat caccaatgcc
     5401 tgatcctatc ctcagagatt ctgatttaat tgttttgggg gacagcttgg gcatcaggat
     5461 tttaaagagt ttccctggtg attttaatgt gaaggtaagg ctgagaatcc ctggttttga
     5521 cagtacctat agcctataag cctttaatac acctctgaaa atgcctgaga cctgaataag
     5581 aagtttatgg ttccacagaa gcagccagac acaaaaatgc atatgcacca tgtgattccc
     5641 cttatatgaa actgaaagac aggccaaact cgcctttgat tgggagtcag gatcaagatt
     5701 accctgggtc gggggtagcg aatggatggg gacctggggg gcttctggga gctcaggatg
     5761 ttctgtttct tgatcagagt gccagttaca cggggtgctc acttcatgag aattcactga
     5821 gctgtatact taagagctgt gtatttgtct gtactggtga tatatttcaa taaaattcac
     5881 cagaaaagcc tgttggctac aaaataggaa aagaaaggac acacttgaaa ttaacgtttt
     5941 gttaaatatc tggaaatgta acacatatgc caaacagaca actgcaactc tatgttacgt
     6001 gtgtgtgtgt gtgtgtgtgt gaaaatgtaa tgtctgctct gctgtgggtg ggccctctaa
     6061 aagggaaggt ccctgatgcc taagaaaatc tgaaaacagc ccaggttcac accaggagtt
     6121 cttaacctcg acccgactgc attcaggtgc atattatgtg ccgttatctg aggagagcat
     6181 ctacagcttt cagcagattc tcaaaggggt atgcaacccc ctaaaaaggt taagaacaat
     6241 tggttttgag gagtcagtaa gaaactggcc atgaatgtgc ttggcatgaa agagatgctt
     6301 ggtaatgtcg gtttctttcc ttcctttcag agcccagcct tcggaggttt ccgcatgagc
     6361 cttctcgggc gacttctagg aggatttatt cccctggcag tgccaagggc agcctgcacc
     6421 aagctcacaa ctcttcctcc aagaggatgt tcaaagggcc tgtcatttca gcatctgctg
     6481 gacagcagaa cttcgcatgc aggatcctgg agctgcgtcg ggttttgaat cagggacaat
     6541 ggaggaagtg ggaaactgtg aagagagtca gagggctgtg ccagctgccc cctttcccac
     6601 ccccagcaat tcacttaact ttcctgagtc tcacctttgt cattatgaga atgtgtatat
     6661 ttataaataa tcatctgttt ctccaatgta agatattgtt attgcagaag tgatactagg
     6721 acctcgttat acgatggcct catgatgtag atttatagca ggcttcagat tctggcatag
     6781 aataaacaga tatttatcca agggttcact gattcccgaa taaatgccag gaacattcat
     6841 gta
//
LOCUS       NM_001010919            1127 bp    mRNA    linear   PRI 03-JUN-2023
DEFINITION  Homo sapiens calcium homeostasis modulator family member 6 (CALHM6),
            transcript variant 1, mRNA.
ACCESSION   NM_001010919
VERSION     NM_001010919.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1127)
  AUTHORS   Malik U and Javed N.
  TITLE     FAM26F: An Enigmatic Protein Having a Complex Role in the Immune
            System
  JOURNAL   Int Rev Immunol 42 (4), 247-257 (2023)
   PUBMED   27645024
  REMARK    GeneRIF: FAM26F: An Enigmatic Protein Having a Complex Role in the
            Immune System. Review article
REFERENCE   2  (bases 1 to 1127)
  AUTHORS   Jabeen K, Malik U, Mansoor S, Shahzad S, Zahid S and Javed A.
  TITLE     Effect of oxidative stress and calcium deregulation on FAM26F
            (CALHM6) expression during hepatitis B virus infection
  JOURNAL   BMC Infect Dis 21 (1), 228 (2021)
   PUBMED   33639860
  REMARK    GeneRIF: Effect of oxidative stress and calcium deregulation on
            FAM26F (CALHM6) expression during hepatitis B virus infection.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1127)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1127)
  AUTHORS   Dufek S, Cheshire C, Levine AP, Trompeter RS, Issler N, Stubbs M,
            Mozere M, Gupta S, Klootwijk E, Patel V, Hothi D, Waters A, Webb H,
            Tullus K, Jenkins L, Godinho L, Levtchenko E, Wetzels J, Knoers N,
            Teeninga N, Nauta J, Shalaby M, Eldesoky S, Kari JA, Thalgahagoda S,
            Ranawaka R, Abeyagunawardena A, Adeyemo A, Kristiansen M, Gbadegesin
            R, Webb NJ, Gale DP, Stanescu HC, Kleta R and Bockenhauer D.
  TITLE     Genetic Identification of Two Novel Loci Associated with
            Steroid-Sensitive Nephrotic Syndrome
  JOURNAL   J Am Soc Nephrol 30 (8), 1375-1384 (2019)
   PUBMED   31263063
  REMARK    GeneRIF: CALHM6 is implicated in regulating the immune response to
            infection and may have a role in typical triggering of
            Steroid-Sensitive Nephrotic Syndrome (SSNS) onset by infections
REFERENCE   5  (bases 1 to 1127)
  AUTHORS   Malik U, Javed A, Ali A and Asghar K.
  TITLE     Structural and functional annotation of human FAM26F: A multifaceted
            protein having a critical role in the immune system
  JOURNAL   Gene 597, 66-75 (2017)
   PUBMED   27784631
  REMARK    GeneRIF: FAM26F is a conserved, signal peptide deprived
            transmembrane protein that is secreted through non-classical
            pathway.FAM26F has an immunoglobulin-like fold which emphasizes its
            role in immune responses.
REFERENCE   6  (bases 1 to 1127)
  AUTHORS   Julia A, Domenech E, Chaparro M, Garcia-Sanchez V, Gomollon F, Panes
            J, Manosa M, Barreiro-De Acosta M, Gutierrez A, Garcia-Planella E,
            Aguas M, Munoz F, Esteve M, Mendoza JL, Vera M, Marquez L, Tortosa
            R, Lopez-Lasanta M, Alonso A, Gelpi JL, Garcia-Montero AC,
            Bertranpetit J, Absher D, Myers RM, Gisbert JP and Marsal S.
  TITLE     A genome-wide association study identifies a novel locus at 6q22.1
            associated with ulcerative colitis
  JOURNAL   Hum Mol Genet 23 (25), 6927-6934 (2014)
   PUBMED   25082827
  REMARK    GeneRIF: FAM26Fwas found to be consistently and significantly
            overexpressed in ulcerative colitis patients.
REFERENCE   7  (bases 1 to 1127)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     ##Evidence-Data-START##
            CDS exon combination :: ERR279836.5680.1, SRR1163657.340109.1
            [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA2145544,
            SAMEA2146236 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368605.3/ ENSP00000357594.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AV734646.2, BM704529.1, DN997293.1 and AF086130.1.
            On Nov 22, 2018 this sequence version replaced NM_001010919.2.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1127
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.1"
     gene            1..1127
                     /gene="CALHM6"
                     /gene_synonym="C6orf187; dJ93H18.5; FAM26F; INAM"
                     /note="calcium homeostasis modulator family member 6"
                     /db_xref="GeneID:441168"
                     /db_xref="HGNC:HGNC:33391"
                     /db_xref="MIM:617305"
     misc_feature    45..47
                     /gene="CALHM6"
                     /gene_synonym="C6orf187; dJ93H18.5; FAM26F; INAM"
                     /note="upstream in-frame stop codon"
     CDS             114..1061
                     /gene="CALHM6"
                     /gene_synonym="C6orf187; dJ93H18.5; FAM26F; INAM"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein FAM26F; IFN regulatory factor 3-dependent
                     NK-activating molecule; calcium homeostasis modulator
                     protein 6; family with sequence similarity 26 member F"
                     /codon_start=1
                     /product="calcium homeostasis modulator protein 6 isoform
                     1"
                     /protein_id="NP_001010919.1"
                     /db_xref="CCDS:CCDS34519.1"
                     /db_xref="GeneID:441168"
                     /db_xref="HGNC:HGNC:33391"
                     /db_xref="MIM:617305"
                     /translation="MEKFRAVLDLHVKHHSALGYGLVTLLTAGGERIFSAVAFQCPCSA
                     AWNLPYGLVFLLVPALALFLLGYVLSARTWRLLTGCCSSARASCGSALRGSLVCTQISA
                     AAALAPLTWVAVALLGGAFYECAATGSAAFAQRLCLGRNRSCAAELPLVPCNQAKASDV
                     QDLLKDLKAQSQVLGWILIAVVIIILLIFTSVTRCLSPVSFLQLKFWKIYLEQEQQILK
                     SKATEHATELAKENIKCFFEGSHPKEYNTPSMKEWQQISSLYTFNPKGQYYSMLHKYVN
                     RKEKTHSIRSTEGDTVIPVLGFVDSSGINSTPEL"
     misc_feature    168..230
                     /gene="CALHM6"
                     /gene_synonym="C6orf187; dJ93H18.5; FAM26F; INAM"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5R3K3.1);
                     transmembrane region"
     misc_feature    267..329
                     /gene="CALHM6"
                     /gene_synonym="C6orf187; dJ93H18.5; FAM26F; INAM"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5R3K3.1);
                     transmembrane region"
     misc_feature    423..485
                     /gene="CALHM6"
                     /gene_synonym="C6orf187; dJ93H18.5; FAM26F; INAM"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5R3K3.1);
                     transmembrane region"
     misc_feature    639..701
                     /gene="CALHM6"
                     /gene_synonym="C6orf187; dJ93H18.5; FAM26F; INAM"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5R3K3.1);
                     transmembrane region"
     regulatory      1114..1119
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CALHM6"
                     /gene_synonym="C6orf187; dJ93H18.5; FAM26F; INAM"
                     /note="hexamer: AATAAA"
     polyA_site      1127
                     /gene="CALHM6"
                     /gene_synonym="C6orf187; dJ93H18.5; FAM26F; INAM"
                     /note="major polyA site"
ORIGIN
        1 gctgatttag cttatggaag aggaaccaga aatttgtcct tgaataatgt ttcccgacaa
       61 cgaagaggca gaaggatctg ggcctgtgcg cgacgccccg ggggacgagg ctcatggaga
      121 agtttcgggc ggtgctggac ctgcacgtca agcaccacag cgccttgggc tacggcctgg
      181 tgaccctgct gacggcgggc ggggagcgca tcttctccgc cgtggcattc cagtgcccgt
      241 gcagcgccgc ctggaacctg ccctacggcc tggtcttctt gctggtgccg gcgctcgcgc
      301 tcttcctcct gggctacgtg ctgagcgcac gcacgtggcg cctgctcacc ggatgctgct
      361 ccagcgcccg cgcgagttgc ggatcggcgc tgcgcggctc cctggtgtgc acgcaaatca
      421 gcgcggccgc cgcgctcgcg cccctcacct gggtggccgt ggcgctgctc gggggcgcct
      481 tttacgagtg cgcggccacc gggagcgcgg ccttcgcgca gcgcctgtgc ctcggccgca
      541 accgcagctg cgccgcggag ctgccgctgg tgccgtgcaa ccaggccaag gcgtcggacg
      601 tgcaggacct cctgaaggat ctgaaggctc agtcgcaggt gttgggctgg atcttgatag
      661 cagttgttat catcattctt ctgattttta catctgtcac ccgatgccta tctccagtta
      721 gttttctgca gctgaaattc tggaaaatct atttggaaca ggagcagcag atccttaaaa
      781 gtaaagccac agagcatgca actgaattgg caaaagagaa tattaaatgt ttctttgagg
      841 gctcgcatcc aaaagaatat aacactccaa gcatgaaaga gtggcagcaa atttcatcac
      901 tgtatacttt caatccgaag ggccagtact acagcatgtt gcacaaatat gtcaacagaa
      961 aagagaagac tcacagtatc aggtctactg aaggagatac ggtgattcct gttcttggct
     1021 ttgtagattc atctggtata aacagcactc ctgagttatg accttttgaa tgagtagaaa
     1081 aaaaaattgt tttgaattat tgctttatta aaaaataaac attggta
//
LOCUS       NM_001010922            5005 bp    mRNA    linear   PRI 06-JUL-2023
DEFINITION  Homo sapiens BCL2 like 15 (BCL2L15), mRNA.
ACCESSION   NM_001010922
VERSION     NM_001010922.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5005)
  AUTHORS   Vivarelli S, Falzone L, Candido S, Bonavida B and Libra M.
  TITLE     YY1 Silencing Induces 5-Fluorouracil-Resistance and BCL2L15
            Downregulation in Colorectal Cancer Cells: Diagnostic and Prognostic
            Relevance
  JOURNAL   Int J Mol Sci 22 (16), 8481 (2021)
   PUBMED   34445183
  REMARK    GeneRIF: YY1 Silencing Induces 5-Fluorouracil-Resistance and BCL2L15
            Downregulation in Colorectal Cancer Cells: Diagnostic and Prognostic
            Relevance. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5005)
  AUTHORS   Zhang JX, Yan XJ, Wu S, Liu Q and Ma JM.
  TITLE     KLF16 overexpression deleteriously affects the proliferation and
            migration of retinoblastoma by transcriptionally repressing BCL2L15
  JOURNAL   Biochem Biophys Res Commun 529 (4), 977-983 (2020)
   PUBMED   32819608
  REMARK    GeneRIF: KLF16 overexpression deleteriously affects the
            proliferation and migration of retinoblastoma by transcriptionally
            repressing BCL2L15.
REFERENCE   3  (bases 1 to 5005)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 5005)
  AUTHORS   Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J,
            Milne RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla MK, Wang Q,
            Dicks E, Lee A, Turnbull C, Rahman N, Fletcher O, Peto J, Gibson L,
            Dos Santos Silva I, Nevanlinna H, Muranen TA, Aittomaki K, Blomqvist
            C, Czene K, Irwanto A, Liu J, Waisfisz Q, Meijers-Heijboer H, Adank
            M, van der Luijt RB, Hein R, Dahmen N, Beckman L, Meindl A,
            Schmutzler RK, Muller-Myhsok B, Lichtner P, Hopper JL, Southey MC,
            Makalic E, Schmidt DF, Uitterlinden AG, Hofman A, Hunter DJ, Chanock
            SJ, Vincent D, Bacot F, Tessier DC, Canisius S, Wessels LF, Haiman
            CA, Shah M, Luben R, Brown J, Luccarini C, Schoof N, Humphreys K, Li
            J, Nordestgaard BG, Nielsen SF, Flyger H, Couch FJ, Wang X, Vachon
            C, Stevens KN, Lambrechts D, Moisse M, Paridaens R, Christiaens MR,
            Rudolph A, Nickels S, Flesch-Janys D, Johnson N, Aitken Z, Aaltonen
            K, Heikkinen T, Broeks A, Veer LJ, van der Schoot CE, Guenel P,
            Truong T, Laurent-Puig P, Menegaux F, Marme F, Schneeweiss A, Sohn
            C, Burwinkel B, Zamora MP, Perez JI, Pita G, Alonso MR, Cox A, Brock
            IW, Cross SS, Reed MW, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N,
            Henderson BE, Schumacher F, Le Marchand L, Andrulis IL, Knight JA,
            Glendon G, Mulligan AM, Lindblom A, Margolin S, Hooning MJ,
            Hollestelle A, van den Ouweland AM, Jager A, Bui QM, Stone J, Dite
            GS, Apicella C, Tsimiklis H, Giles GG, Severi G, Baglietto L,
            Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Muller H,
            Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Jones M,
            Figueroa J, Lissowska J, Brinton L, Goldberg MS, Labreche F, Dumont
            M, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Grip M, Brauch H,
            Hamann U, Bruning T, Radice P, Peterlongo P, Manoukian S, Bonanni B,
            Devilee P, Tollenaar RA, Seynaeve C, van Asperen CJ, Jakubowska A,
            Lubinski J, Jaworska K, Durda K, Mannermaa A, Kataja V, Kosma VM,
            Hartikainen JM, Bogdanova NV, Antonenkova NN, Dork T, Kristensen VN,
            Anton-Culver H, Slager S, Toland AE, Edge S, Fostira F, Kang D, Yoo
            KY, Noh DY, Matsuo K, Ito H, Iwata H, Sueta A, Wu AH, Tseng CC, Van
            Den Berg D, Stram DO, Shu XO, Lu W, Gao YT, Cai H, Teo SH, Yip CH,
            Phuah SY, Cornes BK, Hartman M, Miao H, Lim WY, Sng JH, Muir K,
            Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Shen CY, Hsiung
            CN, Wu PE, Ding SL, Sangrajrang S, Gaborieau V, Brennan P, McKay J,
            Blot WJ, Signorello LB, Cai Q, Zheng W, Deming-Halverson S,
            Shrubsole M, Long J, Simard J, Garcia-Closas M, Pharoah PD,
            Chenevix-Trench G, Dunning AM, Benitez J and Easton DF.
  CONSRTM   Breast and Ovarian Cancer Susceptibility Collaboration; Hereditary
            Breast and Ovarian Cancer Research Group Netherlands (HEBON);
            kConFab Investigators; Australian Ovarian Cancer Study Group; GENICA
            (Gene Environment Interaction and Breast Cancer in Germany) Network
  TITLE     Large-scale genotyping identifies 41 new loci associated with breast
            cancer risk
  JOURNAL   Nat Genet 45 (4), 353-361 (2013)
   PUBMED   23535729
REFERENCE   5  (bases 1 to 5005)
  AUTHORS   Pujianto DA, Damdimopoulos AE, Sipila P, Jalkanen J, Huhtaniemi I
            and Poutanen M.
  TITLE     Bfk, a novel member of the bcl2 gene family, is highly expressed in
            principal cells of the mouse epididymis and demonstrates a
            predominant nuclear localization
  JOURNAL   Endocrinology 148 (7), 3196-3204 (2007)
   PUBMED   17412810
REFERENCE   6  (bases 1 to 5005)
  AUTHORS   Luo HY, Yu SF and Li TJ.
  TITLE     Differential expression of apoptosis-related proteins in various
            cellular components of ameloblastomas
  JOURNAL   Int J Oral Maxillofac Surg 35 (8), 750-755 (2006)
   PUBMED   16690252
REFERENCE   7  (bases 1 to 5005)
  AUTHORS   Dempsey CE, Dive C, Fletcher DJ, Barnes FA, Lobo A, Bingle CD, Whyte
            MK and Renshaw SA.
  TITLE     Expression of pro-apoptotic Bfk isoforms reduces during malignant
            transformation in the human gastrointestinal tract
  JOURNAL   FEBS Lett 579 (17), 3646-3650 (2005)
   PUBMED   15961081
  REMARK    GeneRIF: In the transition from normal tissue to tumour,
            pro-apoptotic Bfk isoform expression is substantially reduced in up
            to 80% of tumours isolated from the human gastrointestinal tract
            compared to tumours from outside the gastrointestinal tract.
REFERENCE   8  (bases 1 to 5005)
  AUTHORS   Coultas L, Pellegrini M, Visvader JE, Lindeman GJ, Chen L, Adams JM,
            Huang DC and Strasser A.
  TITLE     Bfk: a novel weakly proapoptotic member of the Bcl-2 protein family
            with a BH3 and a BH2 region
  JOURNAL   Cell Death Differ 10 (2), 185-192 (2003)
   PUBMED   12700646
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK289439.1, BM829833.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142586,
            SAMEA2154405 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000393316.8/ ENSP00000376992.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL137856.24, AI821052.1, AY265861.1 and BX116361.1.
            On Nov 22, 2018 this sequence version replaced NM_001010922.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5005
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     gene            1..5005
                     /gene="BCL2L15"
                     /gene_synonym="Bfk; C1orf178"
                     /note="BCL2 like 15"
                     /db_xref="GeneID:440603"
                     /db_xref="HGNC:HGNC:33624"
                     /db_xref="MIM:619660"
     misc_feature    189..191
                     /gene="BCL2L15"
                     /gene_synonym="Bfk; C1orf178"
                     /note="upstream in-frame stop codon"
     CDS             207..698
                     /gene="BCL2L15"
                     /gene_synonym="Bfk; C1orf178"
                     /note="pro-apoptotic Bcl-2 protein; bcl2-L-15; bcl-2 family
                     kin"
                     /codon_start=1
                     /product="bcl-2-like protein 15"
                     /protein_id="NP_001010922.1"
                     /db_xref="CCDS:CCDS30809.1"
                     /db_xref="GeneID:440603"
                     /db_xref="HGNC:HGNC:33624"
                     /db_xref="MIM:619660"
                     /translation="MKSSQTFEEQTECIVNTLLMDFLSPTLQVASRNLCCVDEVDSGEP
                     CSFDVAIIAGRLRMLGDQFNGELEASAKNVIAETIKGQTGAILQDTVESLSKTWCAQDS
                     SLAYERAFLAVSVKLLEYMAHIAPEVVGQVAIPMTGMINGNQAIREFIQGQGGWENLES
                     "
     regulatory      781..786
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL2L15"
                     /gene_synonym="Bfk; C1orf178"
                     /note="hexamer: AATAAA"
     polyA_site      812
                     /gene="BCL2L15"
                     /gene_synonym="Bfk; C1orf178"
                     /note="major polyA site"
     regulatory      3201..3206
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL2L15"
                     /gene_synonym="Bfk; C1orf178"
                     /note="hexamer: AATAAA"
     polyA_site      3226
                     /gene="BCL2L15"
                     /gene_synonym="Bfk; C1orf178"
                     /note="major polyA site"
     regulatory      3635..3640
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL2L15"
                     /gene_synonym="Bfk; C1orf178"
                     /note="hexamer: AACAAA"
     polyA_site      3653
                     /gene="BCL2L15"
                     /gene_synonym="Bfk; C1orf178"
     regulatory      4985..4990
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL2L15"
                     /gene_synonym="Bfk; C1orf178"
                     /note="hexamer: AATGAA"
     polyA_site      5005
                     /gene="BCL2L15"
                     /gene_synonym="Bfk; C1orf178"
                     /note="major polyA site"
ORIGIN
        1 agttccaagt aggtaatcct tctgagaagt cccacctttc tgagcagctg tgtttgaaga
       61 aagctagtgg gaaaagttcc aggattacat gtcaggaaac tacaagaggt agaaacattt
      121 gttgatttac cagtgttttt aacttcctgc tgggctgaaa actgcttgtt tcgtggaaaa
      181 gcaaaacttg acagcaaaca tctaaaatga agagctccca aacttttgag gaacaaacgg
      241 aatgcattgt gaacactcta ctcatggact tcttgagccc aacattgcag gttgccagcc
      301 ggaacctatg ctgtgtagat gaagtagatt caggagagcc ttgttctttt gatgtggcta
      361 tcattgctgg tcgccttcgg atgttgggtg accagttcaa cggagaattg gaagcttctg
      421 ccaaaaacgt cattgcagaa accattaagg gacagacagg agctatactc caggacactg
      481 tggaatctct cagcaagacc tggtgtgctc aggattccag cttagcttat gagagagctt
      541 ttctggcagt gtcagtgaaa cttcttgagt acatggctca cattgctcct gaagtagtgg
      601 gacaggtggc tatccccatg acgggtatga tcaatgggaa ccaagccatc cgggagttca
      661 tccagggcca gggaggttgg gaaaatctgg agagctgaag agttggagct attcacgaga
      721 ctgaacatca cttccttgtt gactgattgg gtgattgatt cctgggaatt caaacaaaca
      781 aataaaaaag cacttttttc attttatcag aactgaactt agctgaataa gttatttttt
      841 actgattgtt aaagttggga gcagctgcca gaggcctgca gagttggttt ttgttttgtt
      901 ttgttttgtc aacttaatgc aaaccacaga gattttctac tttctgtttt cacatgagtt
      961 ttaatgaggt tctgttgaag caaagacccc tagacacaaa gtaatgactt gttagtagtg
     1021 gaattataag caacagggca ggcctttgct ggaggtattt tgagagaaag ggagaacaat
     1081 ggaaactatt tcttcagatg tagccctgtc ttttggtaag aattgtgcct actaattttg
     1141 caatttaaag gatttcagga agctttttgg ttgaaaaatc ttgttttttt ttttttagac
     1201 gtagtctcac tctgtcaccc aggctggagt gcagtggtgc gatctcagct cactgcaagc
     1261 tccacctccc ggtttcactc cattctcctg cctcagcctc ctgagtagct gggactacag
     1321 gagcccgcca tcacgcccgg ctaatttttt gtatttttag tagagatgag gtttcgccgt
     1381 gttagccagg atggtctgga tctcctgacc tcgtgattcg cccgccttgg cctcccaaag
     1441 tgctgggatt acaggcgtga gccaccacgc ccggcctaaa atcttgttat tttaagttga
     1501 gcattttcat tcaaaatcat ccctaaactt catgttaatt tcacctgaga aggactattt
     1561 tatgcatttt agaggttgga agcaaaaaac aaacaaacaa acaaaaacag ttgtttctac
     1621 taggaaggtc aaagaaaata aaagttactc catttttact gccacaggat gcaggaagtg
     1681 ctggcccaca tctaggacag caaggccacc ccagcttaga tgaagctagc tgcataacac
     1741 aaagctttaa aagtgtggtt cacacaccac ttgtggacct tattgaattg ctgattcgca
     1801 ttcctagaga ttctgattct gtaggggtag gctggagcct aggaacctac cttttaaact
     1861 agttccatag gtgattctga tgtacatata gagtgtgaca gccatcacta tagagaatag
     1921 attgataaat tacaacccac gcgtcaaatc tggcttgctg tcttattttg taaataaagt
     1981 tttattggaa tagagcaaca ttcacttgtt tacatattgt ccatggccgc ttttgtgcta
     2041 caatggcaga gttgaatgat tatagaagac catatggctg gttaagtcca aaatatttac
     2101 tagctggccc tttacagaaa aagttggctg accccttctc taaatcaaca tttctccttg
     2161 gtaactgaaa ctctattaca gtcctgacaa ttccagcaaa cacagctgta gatagggttt
     2221 aaactcaaag atatttaact cttctttggg aacttagtct ccatatgttt gttagttctt
     2281 gcataatcca cagtttctct gggtcttcag ccaatcagag agctctgtag ctcctgagta
     2341 gtccatttct ctggccctac aagtgagagt gattggaagc aaagcttatg atttgtatga
     2401 tcttgtatct caaaatagtc cttaatgatc taatagatta gtaggcagtc atcaggtaga
     2461 gactccaaaa accagactac tttcctaaat atcaagaaga aaggcattgc tacagtgatt
     2521 catgaaaagc agcattaata actttggcta aagtttaaca aagctaacca cttcccctct
     2581 atcagccagc catctatgta tctcctctaa atgcagagaa gtaaatatgt agtgctgtta
     2641 atacattttt gctttttaaa gttatgcttt gtcctggcgc agtggctcat gcctgtaatc
     2701 ccagcacttt gggaggccaa ggcgggtgga tcacctgagg ttaggagttt gagaccagcc
     2761 tggccaacat ggtgaaaccc tgtctctgct aaaaatacaa aaaattagcc aggcttggtg
     2821 gcacgtgcct gtaatgccag ctactcagga ggctgaggca ggagaatcac ttgaacctgg
     2881 gaggcggagg ttgctgtgag ctgagttcgc gccattgcac tccagcctgg gctacaaaag
     2941 cgaaactgtc taaaaaaaaa aaaagaaaat aaataaagtt atgctttttc ctctattcct
     3001 agttaaatca caacaagtta gtaatccata aatgatgtgt cctgtttctc tttagtagaa
     3061 attatatttt tggctaccag ttaagaaact tgtactcctt tgtcccttat gttactataa
     3121 actcaagatg atgagttttg tggtatttga cttcataggc aaaatcaaaa tttttacttt
     3181 gttgctattc tgttttatga aataaacttc tgtctatgca tttgaactaa gtttcagcaa
     3241 attcaatcta aattgaataa ttccagctcc cagttttatc ctatgttgct cataaaacag
     3301 ttccaagtat actgcattat cttgagattt gaagatatgg tgcccacggg gattatacta
     3361 ggcaaatgcg ttaagcagct ctggcctagg tgttgtgtat tttaagagac tctatcttag
     3421 gagagcttaa gtgattgggc tgcaggaaga agacattgta acccaggaat taaaaatgga
     3481 ttcagattgc ctgattttaa cactttagtt tcaccatagg ctaattatgt gacattgggc
     3541 aagagacata attcttctgt accttagttt ctacatttgt aaaatagaga tgatttggta
     3601 acttattaat aagatttttg tgagagataa ataaaacaaa tacattttgt aaagggtgag
     3661 tacttggaat attttaaaca ctgtgccatt agcaatttgg aattctgtgt tatgcagttc
     3721 ataaggttct agcttgactt ttttctctct ccattaaccc tgtctctcac agatgcaaac
     3781 cactcttaat ggctttactt tcacatcaat gtgagtgatt cctaaatatg atttatttcc
     3841 cttctcaatt ccatacccac agatgcttat tatttattta tgtgtacctt tcttatcccc
     3901 atactctccc tgtttgcgat acaactagct caaaacctca gtcattttta ccttgtctct
     3961 ctctctccag tccaactcac ccaactagtt tttctcattt gttacttcat ttttgtcctg
     4021 gttcttctac cagatttatt agcaactgcc tggactatta ataaagcctc ctacttaggc
     4081 tttcaataga ttgttctgtt cctgctccat tccagtctgt cctatatact gccatcagat
     4141 tgatcaaagc tgtggtttct ttgtctatta ttttgattca tttttagata tggtatcatt
     4201 catttttaaa tttaacatac caatgaagat tacaagactt aaacatctta tcagaagggg
     4261 gcatttattt tttaaatcaa gaaataactt tccaaaagca ttgctttgaa tgccattctc
     4321 ttaaagtcct tcagtggaac ttttgagtgt gattagacat gttcattatc ttgattgtag
     4381 tgattttatg ggtgatgatt tcacaccaac ttatcaaact gcatactttg aaatgtgtag
     4441 tttattgtac atcagcacta ccttaataag gttgtttttt ttaaaaaaaa aaaaaaaacc
     4501 ttcagctgct ccctactgtt catcaaataa cagtctgata ttcaaattcc cccagtatct
     4561 ggccctaact gccctatata gccttaatca atcatgattc tcctctacaa tcccaatgct
     4621 ctagtataac cgagccagtc actaaagctg ccctcctcct actgttccct atgtttcata
     4681 ttcctttttc tgaggctcta cctgtagaca tcttcaagac ccaacccaac tgtcatgaag
     4741 ccttctccat gaaggctatc catataacca gaataagaag tggtctttgc ctccttgaac
     4801 ttttgtttgt accactttta tgtttcttat ccaaaaaatg gccttaagtt gtaattatct
     4861 gtatagtcat cttccccact aggataaagg attgctgaat gatacaattt gttgtatact
     4921 tctgtaacac ccctcctctt cattatctgg catgtacatc gatattaaaa atattcatta
     4981 aatgaatgaa tagctgattg actca
//
LOCUS       NM_001010923            3837 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens thymocyte selection associated (THEMIS), transcript
            variant 2, mRNA.
ACCESSION   NM_001010923
VERSION     NM_001010923.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3837)
  AUTHORS   Sun C, Shou P, Du H, Hirabayashi K, Chen Y, Herring LE, Ahn S, Xu Y,
            Suzuki K, Li G, Tsahouridis O, Su L, Savoldo B and Dotti G.
  TITLE     THEMIS-SHP1 Recruitment by 4-1BB Tunes LCK-Mediated Priming of
            Chimeric Antigen Receptor-Redirected T Cells
  JOURNAL   Cancer Cell 37 (2), 216-225 (2020)
   PUBMED   32004441
  REMARK    GeneRIF: THEMIS-SHP1 Recruitment by 4-1BB Tunes LCK-Mediated Priming
            of Chimeric Antigen Receptor-Redirected T Cells
REFERENCE   2  (bases 1 to 3837)
  AUTHORS   Choi S, Warzecha C, Zvezdova E, Lee J, Argenty J, Lesourne R,
            Aravind L and Love PE.
  TITLE     THEMIS enhances TCR signaling and enables positive selection by
            selective inhibition of the phosphatase SHP-1
  JOURNAL   Nat Immunol 18 (4), 433-441 (2017)
   PUBMED   28250424
  REMARK    GeneRIF: we found that THEMIS directly regulated the catalytic
            activity of the tyrosine phosphatase SHP-1. Erratum:[Nat Immunol.
            2017 May 18;18(6):705. PMID: 28518157]
REFERENCE   3  (bases 1 to 3837)
  AUTHORS   Kinosada H, Yasunaga JI, Shimura K, Miyazato P, Onishi C, Iyoda T,
            Inaba K and Matsuoka M.
  TITLE     HTLV-1 bZIP Factor Enhances T-Cell Proliferation by Impeding the
            Suppressive Signaling of Co-inhibitory Receptors
  JOURNAL   PLoS Pathog 13 (1), e1006120 (2017)
   PUBMED   28046066
  REMARK    Erratum:[PLoS Pathog. 2017 Feb 23;13(2):e1006228. PMID: 28231270]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3837)
  AUTHORS   Davies JL, Thompson S, Kaur-Sandhu H, Sawcer S, Coles A, Ban M and
            Jones J.
  TITLE     Increased THEMIS First Exon Usage in CD4+ T-Cells Is Associated with
            a Genotype that Is Protective against Multiple Sclerosis
  JOURNAL   PLoS One 11 (7), e0158327 (2016)
   PUBMED   27438997
  REMARK    GeneRIF: we have demonstrated mutually exclusive use of exon 1 and 2
            amongst 16 novel THEMIS isoforms. We also show inverse correlation
            between THEMIS expression in human CD4+ T-cells and dosage of the
            multiple sclerosis risk allele at rs13204742, driven by reduced
            expression of exon 1- containing isoforms Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 3837)
  AUTHORS   Paster W, Bruger AM, Katsch K, Gregoire C, Roncagalli R, Fu G,
            Gascoigne NR, Nika K, Cohnen A, Feller SM, Simister PC, Molder KC,
            Cordoba SP, Dushek O, Malissen B and Acuto O.
  TITLE     A THEMIS:SHP1 complex promotes T-cell survival
  JOURNAL   EMBO J 34 (3), 393-409 (2015)
   PUBMED   25535246
  REMARK    GeneRIF: the THEMIS:SHP complex dampens early TCR signalling by a
            previously unknown molecular mechanism that favours T-cell survival.
REFERENCE   6  (bases 1 to 3837)
  AUTHORS   Kakugawa K, Yasuda T, Miura I, Kobayashi A, Fukiage H, Satoh R,
            Matsuda M, Koseki H, Wakana S, Kawamoto H and Yoshida H.
  TITLE     A novel gene essential for the development of single positive
            thymocytes
  JOURNAL   Mol Cell Biol 29 (18), 5128-5135 (2009)
   PUBMED   19620281
REFERENCE   7  (bases 1 to 3837)
  AUTHORS   Allen,P.M.
  TITLE     Themis imposes new law and order on positive selection
  JOURNAL   Nat Immunol 10 (8), 805-806 (2009)
   PUBMED   19621038
REFERENCE   8  (bases 1 to 3837)
  AUTHORS   Fu G, Vallee S, Rybakin V, McGuire MV, Ampudia J, Brockmeyer C,
            Salek M, Fallen PR, Hoerter JA, Munshi A, Huang YH, Hu J, Fox HS,
            Sauer K, Acuto O and Gascoigne NR.
  TITLE     Themis controls thymocyte selection through regulation of T cell
            antigen receptor-mediated signaling
  JOURNAL   Nat Immunol 10 (8), 848-856 (2009)
   PUBMED   19597499
  REMARK    GeneRIF: Functional analysis of the mouse gene by knockout, and
            comparison of the mouse and human proteins.
REFERENCE   9  (bases 1 to 3837)
  AUTHORS   Lesourne R, Uehara S, Lee J, Song KD, Li L, Pinkhasov J, Zhang Y,
            Weng NP, Wildt KF, Wang L, Bosselut R and Love PE.
  TITLE     Themis, a T cell-specific protein important for late thymocyte
            development
  JOURNAL   Nat Immunol 10 (8), 840-847 (2009)
   PUBMED   19597498
  REMARK    GeneRIF: Functional characterization of the homologous mouse gene.
            Erratum:[Nat Immunol. 2010 Jan;11(1):97]
REFERENCE   10  (bases 1 to 3837)
  AUTHORS   Johnson AL, Aravind L, Shulzhenko N, Morgun A, Choi SY, Crockford
            TL, Lambe T, Domaschenz H, Kucharska EM, Zheng L, Vinuesa CG,
            Lenardo MJ, Goodnow CC, Cornall RJ and Schwartz RH.
  TITLE     Themis is a member of a new metazoan gene family and is required for
            the completion of thymocyte positive selection
  JOURNAL   Nat Immunol 10 (8), 831-839 (2009)
   PUBMED   19597497
  REMARK    Erratum:[Nat Immunol. 2010 Jan;11(1):97]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC130516.1, AK292046.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368248.5/ ENSP00000357231.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL035470.10, AL365224.8 and
            AL356432.17.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 23, 2021 this sequence version replaced NM_001010923.2.
            Summary: This gene encodes a protein that plays a regulatory role
            in both positive and negative T-cell selection during late
            thymocyte development. The protein functions through T-cell antigen
            receptor signaling, and is necessary for proper lineage commitment
            and maturation of T-cells. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Sep 2009].
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the central coding region, compared to variant 1, resulting
            in an isoform (2) that is shorter than isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3837
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.33"
     gene            1..3837
                     /gene="THEMIS"
                     /gene_synonym="C6orf190; C6orf207; GASP; SPOT; THEMIS1;
                     TSEPA"
                     /note="thymocyte selection associated"
                     /db_xref="GeneID:387357"
                     /db_xref="HGNC:HGNC:21569"
                     /db_xref="MIM:613607"
     misc_feature    91..93
                     /gene="THEMIS"
                     /gene_synonym="C6orf190; C6orf207; GASP; SPOT; THEMIS1;
                     TSEPA"
                     /note="upstream in-frame stop codon"
     CDS             127..2052
                     /gene="THEMIS"
                     /gene_synonym="C6orf190; C6orf207; GASP; SPOT; THEMIS1;
                     TSEPA"
                     /note="isoform 2 is encoded by transcript variant 2;
                     thymocyte selection pathway associated; GRB2-associated
                     protein; signaling phosphoprotein specific for T cells;
                     thymocyte-expressed molecule involved in selection; protein
                     THEMIS"
                     /codon_start=1
                     /product="protein THEMIS isoform 2"
                     /protein_id="NP_001010923.1"
                     /db_xref="CCDS:CCDS34534.1"
                     /db_xref="GeneID:387357"
                     /db_xref="HGNC:HGNC:21569"
                     /db_xref="MIM:613607"
                     /translation="MALSLEEFVHSLDLRTLPRVLEIQAGIYLEGSIYEMFGNECCFST
                     GEVIKITGLKVKKIIAEICEQIEGCESLQPFELPMNFPGLFKIVADKTPYLTMEEITRT
                     IHIGPSRLGHPCFYHQKDIKLENLIIKQGEQIMLNSVEEIDGEIMVSCAVARNHQTHSF
                     NLPLSQEGEFYECEDERIYTLKEIVEWKIPKNRTRTVNLTDFSNKWDSTNPFPKDFYGT
                     LILKPVYEIQGVMKFRKDIIRILPSLDVEVKDITDSYDANWFLQLLSTEDLFEMTSKEF
                     PIVTEVIEAPEGNHLPQSILQPGKTIVIHKKYQASRILASEIRSNFPKRHFLIPTSYKG
                     KFKRRPREFPTAYDLEIAKSEKEPLHVVATKAFHSPHDKLSSVSVGDQFLVHQSETTEV
                     LCEGIKKVVNVLACEKILKKSYEAALLPLYMEGGFVEVIHDKKQYPISELCKQFRLPFN
                     VKVSVRDLSIEEDVLAATPGLQLEEDITDSYLLISDFANPTECWEIPVGRLNMTVQLVS
                     NFSRDAEPFLVRTLVEEITEEQYYMMRRYESSASHPPPRPPKHPSVEETKLTLLTLAEE
                     RTVDLPKSPKRHHVDITKKLHPNQAGLDSKVLIGSQNDLVDEEKERSNRGATAIAETFK
                     NEKHQK"
     misc_feature    127..903
                     /gene="THEMIS"
                     /gene_synonym="C6orf190; C6orf207; GASP; SPOT; THEMIS1;
                     TSEPA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N1K5.3);
                     Region: CABIT 1"
     misc_feature    904..1680
                     /gene="THEMIS"
                     /gene_synonym="C6orf190; C6orf207; GASP; SPOT; THEMIS1;
                     TSEPA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N1K5.3);
                     Region: CABIT 2"
     misc_feature    1876..1878
                     /gene="THEMIS"
                     /gene_synonym="C6orf190; C6orf207; GASP; SPOT; THEMIS1;
                     TSEPA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:15144186,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q8N1K5.3); phosphorylation site"
     misc_feature    1966..2049
                     /gene="THEMIS"
                     /gene_synonym="C6orf190; C6orf207; GASP; SPOT; THEMIS1;
                     TSEPA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N1K5.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3818..3823
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THEMIS"
                     /gene_synonym="C6orf190; C6orf207; GASP; SPOT; THEMIS1;
                     TSEPA"
                     /note="hexamer: AATAAA"
     polyA_site      3837
                     /gene="THEMIS"
                     /gene_synonym="C6orf190; C6orf207; GASP; SPOT; THEMIS1;
                     TSEPA"
                     /note="major polyA site"
ORIGIN
        1 gtagtgtgac attcctgcct gcctgaggaa gaaatggtga gcaggggctg caattgcaga
       61 caagtgtcac ccagaagcca caagtttctg tgagcaccag gtctacaaac tacccaaggc
      121 atagcaatgg cattatcact ggaagaattc gtccactccc ttgacctcag gaccctaccc
      181 agggttctag aaatccaggc aggcatctat cttgaaggct ctatttatga aatgtttgga
      241 aatgaatgct gtttttcaac aggagaagtg attaaaatta ctggtctcaa agttaagaag
      301 atcatagctg aaatttgtga gcagattgaa ggttgtgagt ctctacagcc atttgaactg
      361 cctatgaatt ttccaggtct ttttaagatt gtggctgata aaactccata ccttactatg
      421 gaagaaatca caaggaccat tcatattgga ccaagtagac tagggcatcc ttgcttctat
      481 catcagaagg atataaaact agagaacctc atcataaagc agggtgagca aatcatgctc
      541 aactcagttg aagagattga tggagaaata atggtgagct gtgcagtagc aaggaatcat
      601 caaactcact catttaattt gcctttgtca caagaaggag aattctacga gtgtgaagat
      661 gaacgtattt acactctaaa ggagattgtt gaatggaaga ttcctaagaa cagaacaaga
      721 actgtaaacc ttacagattt ttcaaataag tgggactcaa cgaatccatt tcctaaagac
      781 ttttatggta ccctgattct caagcctgtt tatgaaattc aaggtgtgat gaaatttcga
      841 aaagatataa tccgcatcct ccccagtcta gatgtcgaag tcaaagacat cactgattct
      901 tacgatgcta actggtttct tcagctgtta tcaacagaag atctttttga aatgactagt
      961 aaagagttcc ccatagtgac tgaagtcata gaagcacctg aaggaaacca cctgccccaa
     1021 agcattttac agcctgggaa aaccattgtg atccacaaaa agtaccaggc atcaagaatc
     1081 ttagcttcag aaattagaag caattttcct aaaagacact tcttgatccc cactagctat
     1141 aaaggcaagt tcaagcggcg accgagggag ttcccaacgg cctatgacct agagatcgct
     1201 aagagtgaaa aggagcctct tcacgtggtg gccaccaaag cgtttcattc ccctcatgac
     1261 aagctgtcat ccgtatctgt tggggaccag tttctggtgc atcagtcaga gacgactgaa
     1321 gtcctctgtg agggaataaa aaaagtggtg aatgttctgg cctgtgaaaa aatcctcaaa
     1381 aagtcctatg aggctgcgct gctccctttg tacatggaag gaggttttgt agaggtgatt
     1441 catgataaga aacagtaccc gatttctgag ctctgtaaac agttccgttt gcccttcaat
     1501 gtgaaggtgt ctgtcaggga tctttccatt gaagaggacg tgttggctgc cacaccagga
     1561 ctgcagttgg aggaggacat tacagactct tacctactca taagtgactt tgccaacccc
     1621 acggagtgct gggaaattcc tgtgggccgc ttgaatatga ctgttcagtt agttagtaat
     1681 ttctctaggg atgcagaacc atttctagtc aggactctgg tagaagagat cactgaagag
     1741 caatattaca tgatgcggag atatgaaagc tcagcctcac atcccccacc tcgccctccg
     1801 aaacacccct cagtagagga aacaaagtta accctgctaa ccttagcaga agaaaggacg
     1861 gtagacctgc ccaagtctcc caagcgtcat cacgtagaca taaccaagaa acttcaccca
     1921 aatcaagctg gcctggattc aaaagtactg attggtagtc agaatgattt ggtggatgaa
     1981 gagaaagaaa ggagcaaccg tggggccaca gcaatagcag aaacattcaa aaatgaaaaa
     2041 catcaaaaat aacaagatgt gacagaagcc acttaggcag caaacataaa tgttgcagtg
     2101 aaaaaagaag ctagccttct agctgaaaaa cgagtattcc ccaatggact ccagaagaaa
     2161 cttgattcat cgctgcaaag gaaagaacaa ccttaaaact tttaacagat aaaacttaca
     2221 gaaacctatg atatagaatt catatagtct attctgttgt gtctaaatct gtaggcattg
     2281 tgttgttgtt ctttaggacg tatttattta acttgcacat tttttcagat tcttatttct
     2341 actaccaaca actaagtaat tgggaaataa ttctgtattt cagtttctga gtaaaaccag
     2401 tctgaaatag gataaaagcc accaaatatt ttcttttttt tccagaattt gttttgccat
     2461 tttttagtgc tatcatcatt cctaacaaga ctaacttaca gaaaaataat tatatctgac
     2521 tgatttaaaa tgttcaggtt tcttatccaa atcccttgga actatggaaa ggagtttgat
     2581 ttcacattca cagtgtattt acaaaatacg ctgtgtcata aatatgtttg aattccaaca
     2641 gccaaagcca ttgagagtca taggagtttt ccataacctt ctcttctatg acccaacaac
     2701 aagctcatga ctgaaatttc accagatttc tgagacgatg tcttaatatt ctatgtgcta
     2761 tgtaccagat aattctttag atgaatgttt cttaggattg taggaaaatt atctagttaa
     2821 tcataatatt tgatggaaag aaaaagacaa taaaattgta atataataaa tttggctgac
     2881 aagaaaccaa agtgattctt aattagtata catcagaatg atgctcttat agttgtacca
     2941 tctataaaaa ttactttaag ggctctcaca ttttaataat ttatcttatt atgtattaag
     3001 tatacaggaa caatattatt tttcctttaa caaaatgaag agacaggcta tctggttaat
     3061 gttacatagg aatttaatag taatgcttga acttcatcca tagatcatac tctgtacaaa
     3121 atttgttagc taacatccta tctcataatt attttatgtt ttgtggagaa atttgttgat
     3181 tttgtaccaa agtgtttctg aagacaataa attgtgagtc aactttagaa caaaaaaaat
     3241 tagagttttt tcaatgttta tattctgatt aagcttactt taccttacat tttttctaag
     3301 taacaatgaa tcctgatttc tagtgtccta aaaattgctt agtgatttga ttgtggtaat
     3361 atcatttctt atctacaatg tctaaagttt tatgggacag tttttctttt atttattttg
     3421 cctgtttgtg cagataagaa cagaaacttt tctaagaccc acatttggtt attgaaggcc
     3481 acagcgaatc ttaacctaac agccttgaca aactgcacca taggtgtttt tagactcata
     3541 taatttgtta tttttcaaac aatagtgaat aattaatatt tttgtttgga atttgagaac
     3601 aattaaattt gtacttttag taactaccat tctttgatta gaaaattaag agaatgcata
     3661 tcttactttg gttgtaaatt atcaagggct ttctaataga aatcatatat aacatttcta
     3721 aatataagtc ctttcacata ctgtgtttcc agttgtcttg atattgaaaa gtgtaataaa
     3781 cttcatgctc acctattgga gatttgggaa ggttgaaaat aaacttccta attttta
//
LOCUS       NM_001010924            4182 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens family with sequence similarity 171 member A1
            (FAM171A1), mRNA.
ACCESSION   NM_001010924
VERSION     NM_001010924.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4182)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 4182)
  AUTHORS   Rasila T, Saavalainen O, Attalla H, Lankila P, Haglund C, Holtta E
            and Andersson LC.
  TITLE     Astroprincin (FAM171A1, C10orf38): A Regulator of Human Cell Shape
            and Invasive Growth
  JOURNAL   Am J Pathol 189 (1), 177-189 (2019)
   PUBMED   30312582
  REMARK    GeneRIF: APCN regulates the dynamics of the actin cytoskeletal and,
            thereby, the cell shape and invasive growth potential of tumor
            cells.
REFERENCE   3  (bases 1 to 4182)
  AUTHORS   Goldstein JI, Jarskog LF, Hilliard C, Alfirevic A, Duncan L,
            Fourches D, Huang H, Lek M, Neale BM, Ripke S, Shianna K,
            Szatkiewicz JP, Tropsha A, van den Oord EJ, Cascorbi I, Dettling M,
            Gazit E, Goff DC, Holden AL, Kelly DL, Malhotra AK, Nielsen J,
            Pirmohamed M, Rujescu D, Werge T, Levy DL, Josiassen RC, Kennedy JL,
            Lieberman JA, Daly MJ and Sullivan PF.
  TITLE     Clozapine-induced agranulocytosis is associated with rare HLA-DQB1
            and HLA-B alleles
  JOURNAL   Nat Commun 5, 4757 (2014)
   PUBMED   25187353
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4182)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage
            AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G,
            Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T,
            Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S,
            Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T,
            Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N,
            Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall
            M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL,
            Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm
            L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY683003.1, SRR1803612.37606.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2153307
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378116.9/ ENSP00000367356.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL139338.21, AL050367.1, BX496483.1, AK022946.1 and BC034232.1.
            On Nov 22, 2018 this sequence version replaced NM_001010924.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4182
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p13"
     gene            1..4182
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="family with sequence similarity 171 member A1"
                     /db_xref="GeneID:221061"
                     /db_xref="HGNC:HGNC:23522"
     CDS             238..2910
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="astroprincin; protein FAM171A1"
                     /codon_start=1
                     /product="protein FAM171A1 precursor"
                     /protein_id="NP_001010924.1"
                     /db_xref="CCDS:CCDS31154.1"
                     /db_xref="GeneID:221061"
                     /db_xref="HGNC:HGNC:23522"
                     /translation="MSRSATLLLCLLGCHVWKAVTKTLREPGAGAQEVTLKVHISDAST
                     HQPVADALIEIFTNQASIASGTSGTDGVAFIKFQYKLGSQLIVTASKHAYVPNSAPWKP
                     IRLPVFSSLSLGLLPERSATLMVYEDVVQIVSGFQGARPQPRVHFQRRALRLPENTSYS
                     DLTAFLTAASSPSEVDSFPYLRGLDGNGTGNSTRHDLTPVTAVSVHLLSSNGTPVLVDG
                     PIYVTVPLATQSSLRHNAYVAAWRFDQKLGTWLKSGLGLVHQEGSQLTWTYIAPQLGYW
                     VAAMSPPIPGPVVTQDITTYHTVFLLAILGGMAFILLVLLCLLLYYCRRKCLKPRQHHR
                     KLQLPAGLESSKRDQSTSMSHINLLFSRRASEFPGPLSVTSHGRPEAPGTKELMSGVHL
                     EMMSPGGEGDLHTPMLKLSYSTSQEFSSREELLSCKEEDKSQISFDNLTPSGTLGKDYH
                     KSVEVFPLKARKSMEREGYESSGNDDYRGSYNTVLSQPLFEKQDREGPASTGSKLTIQE
                     HLYPAPSSPEKEQLLDRRPTECMMSRSVDHLERPTSFPRPGQLICCSSVDQVNDSVYRK
                     VLPALVIPAHYMKLPGDHSYVSQPLVVPADQQLEIERLQAELSNPHAGIFPHPSSQIQP
                     QPLSSQAISQQHLQDAGTREWSPQNASMSESLSIPASLNDAALAQMNSEVQLLTEKALM
                     ELGGGKPLPHPRAWFVSLDGRSNAHVRHSYIDLQRAGRNGSNDASLDSGVDMNEPKSAR
                     KGRGDALSLQQNYPPVQEHQQKEPRAPDSTAYTQLVYLDDVEQSGSECGTTVCTPEDSA
                     LRCLLEGSSRRSGGQLPSLQEETTRRTADAPSEPAASPHQRRSAHEEEEDDDDDDQGED
                     KKSPWQKREERPLMAFNIK"
     sig_peptide     238..300
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    712..714
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:30312582; propagated from
                     UniProtKB/Swiss-Prot (Q5VUB5.1); glycosylation site"
     misc_feature    805..807
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5VUB5.1); glycosylation site"
     misc_feature    817..819
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30312582; propagated from
                     UniProtKB/Swiss-Prot (Q5VUB5.1); glycosylation site"
     misc_feature    1147..1209
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VUB5.1);
                     transmembrane region"
     misc_feature    1309..1311
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5VUB5.1); phosphorylation site"
     misc_feature    1315..1317
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5VUB5.1); phosphorylation site"
     misc_feature    1348..1350
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q5VUB5.1); phosphorylation site"
     misc_feature    1501..1503
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5VUB5.1); phosphorylation site"
     misc_feature    1564..1566
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q5VUB5.1); phosphorylation site"
     misc_feature    1810..1812
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5VUB5.1); phosphorylation site"
     misc_feature    2425..2514
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VUB5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2689..2907
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VUB5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2782..2784
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q5VUB5.1); phosphorylation site"
     misc_feature    2800..2802
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18318008; propagated from
                     UniProtKB/Swiss-Prot (Q5VUB5.1); phosphorylation site"
     regulatory      4159..4164
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="hexamer: AATAAA"
     polyA_site      4182
                     /gene="FAM171A1"
                     /gene_synonym="APCN; C10orf38"
                     /note="major polyA site"
ORIGIN
        1 aaggagctgg cggagcagca gcagccgccg ccgccgccgc cgccgcggct cttcggggaa
       61 acccggcgcg gggcgcggga gggagcggcc ggggcggcgg ggccgggcca atcgggcggc
      121 gggcccggcg cgcggagcca gcgacatgga ggggggcgcg gcgcccggcc gcccgtgacg
      181 cgccgccgcc cggcccgctc tcggcgagcc cgagccgccg ccggccccgc ggcggagatg
      241 agcaggtccg cgacgctgct gctgtgcctg ctgggctgcc acgtctggaa ggcggtgacc
      301 aagacgctgc gggagcccgg cgccggagcc caagaggtga cgttaaaggt gcacatcagc
      361 gacgccagca cccaccagcc cgtagcagat gcgctcatcg agatcttcac caaccaggcc
      421 tccatagcct ctggcacctc ggggactgat ggcgtcgcct ttatcaagtt ccagtataag
      481 ctgggcagtc agttgattgt caccgcctcg aagcatgcct acgtgccaaa ctctgcccca
      541 tggaagccaa tccggttacc tgtattttcc tctctgagcc ttggcctgct tccagaacgc
      601 tctgccactc taatggtata tgaagatgtc gtccaaatag tatcaggatt ccaaggtgcc
      661 cggccacagc ctcgcgttca tttccagaga agggctctga ggttgcctga gaacaccagc
      721 tacagtgacc tgaccgcgtt tctcacggcc gccagctccc cttcggaggt ggacagtttt
      781 ccttatttgc gaggattaga cggaaatgga acaggaaaca gcaccaggca tgacctgacc
      841 ccagtcacag ccgtcagcgt ccacttgctg agcagtaatg gaacgccggt gctggtggat
      901 ggtcccatct atgtcactgt gcccctggcc acgcagagca gcctgaggca caatgcctat
      961 gtcgcggcgt ggcggtttga ccagaagctg ggaacgtggc tgaagagcgg tctgggtctt
     1021 gtgcaccagg aaggcagcca gctgacgtgg acatacattg ccccccagtt ggggtactgg
     1081 gtggccgcca tgtcccctcc catcccaggt cccgttgtaa cacaggacat taccacgtat
     1141 cacacggtgt ttcttttggc cattttagga ggaatggctt tcatactttt ggttttgctg
     1201 tgtctccttt tatattattg caggaggaag tgcttgaaac ctcgtcagca ccacagaaaa
     1261 ctgcagctcc ctgcaggact ggagagttcc aaaagagacc agtccacgtc catgtcacac
     1321 attaacttgc tgttttcacg ccgagcgtca gaattccctg gcccgctgtc cgtcaccagc
     1381 cacggccgcc ccgaggcccc cggcacgaag gaactgatga gtggagtcca tttggaaatg
     1441 atgtctccgg gcggcgaagg ggacctgcac acccccatgc tcaagctctc ctacagcacc
     1501 tcccaggaat ttagctcccg ggaggagctc ctctcttgca aggaagagga taaaagccag
     1561 atctcctttg ataacctcac tccaagtggg acgctgggga aagactacca taagtcagtg
     1621 gaggtttttc ccttaaaggc aagaaaatct atggaaagag aaggctacga gtcctcgggc
     1681 aatgatgact acaggggtag ttacaacacc gtgctctcac agcctttatt tgaaaagcag
     1741 gacagagaag gtccagcctc cacgggaagc aaactcacca ttcaggaaca tctgtacccc
     1801 gcgccttcat cacctgagaa agaacagctg ctggaccgca gacccactga atgtatgatg
     1861 tcgcgatcag tagatcacct cgagagacct acgtccttcc cacggcccgg ccagttaatc
     1921 tgctgcagtt ctgtcgacca ggtcaatgac agcgtttaca ggaaagtact gcctgccttg
     1981 gtcatcccgg ctcattatat gaaactcccc ggggaccact cctatgtcag ccagcccctc
     2041 gtcgtcccgg ctgatcagca gcttgagata gaaagactac aggctgagct gtccaatccc
     2101 catgccggga tcttcccaca cccgtcctca cagatccagc cccagcccct gtcttcccag
     2161 gccatctctc agcagcacct gcaggatgcg ggcacccggg agtggagccc tcagaacgca
     2221 tccatgtcgg agtctctctc catcccagct tccctgaacg acgcggcttt ggctcagatg
     2281 aacagtgagg tgcagctcct gactgaaaag gccctgatgg agcttggggg tgggaagccg
     2341 cttccgcacc cccgggcgtg gttcgtctcc ttggatggca ggtccaacgc tcacgttaga
     2401 cattcataca ttgatctcca aagagctgga aggaacggaa gtaatgatgc cagtttggac
     2461 tctggcgtag atatgaatga accaaaatca gcccggaagg gaaggggaga tgctttgtct
     2521 ctgcagcaga actacccgcc cgtccaagag caccagcaga aagagcctcg agccccagac
     2581 agcacggcct acacgcagct cgtgtacctg gatgacgtgg aacagagtgg tagcgaatgt
     2641 gggaccacgg tctgtacccc cgaggacagt gccctgcgat gcttgttgga ggggtcgagt
     2701 cggagaagtg gtggccagct gcccagcctg caggaggaga cgaccagacg gactgcggat
     2761 gccccctcgg agccagcagc cagcccccac cagagaagat ctgcccacga ggaagaggaa
     2821 gacgatgatg atgatgacca aggagaagac aagaaaagcc cctggcagaa acgggaggag
     2881 aggcccctga tggcgtttaa cattaaatga gctatcgcag acccacctga ctgtggaata
     2941 taaaattgcc aaatatcctt tctcatggaa gcgcgtaccc gttcgtggag gaaacggaac
     3001 ggcagcccag ccgtgggacg gacgtggacg tttactgcat tcctgtttgc cgtgtaaatg
     3061 ttagaaagga attaaagtta ttactcggaa taaaggatga ctttggcgga tgtcgcccct
     3121 gcaaggaggt ggctgaaagt ggtgtccaga tgtccttccg aggactcggc gtatccgcca
     3181 ccagggacat taagaaaccg cacgtgatgt cgctatgctc taacgatcac ctcagttctc
     3241 cctcggattc tgggaacaga tgaaactttt tgcatcgctt gagtcatttt tatcacaata
     3301 atcctactgt gaagctgtcg ttgagaactt aggttggcac gtagcgtctc aaggtatgcg
     3361 ttctctcaaa ggaaagctat gcatcgctgc ttcgttgtct gattttgctt agattttgct
     3421 ttggttaggt tgcgttttgg ggtttgcctt tttttgttgt cgcttaaatg caatttggtt
     3481 gtaaagattt gattcctttg tgttcatctg ttccgcttct cagcggtcca tctcagcgtc
     3541 tcccttcagg aaccgctgag tgtcctctct taacatccaa gccttttaat gaaatcgtac
     3601 tgaaatctgt atcagctaag agtcctccaa tcctggtccc attaactcca agtgcctttt
     3661 tgacagtgac aacagacagt ccctcgcttt ttgttgttgt tggttttctt aaccccttta
     3721 atggaactgc ctggatttta tacagttatt aaaggatgtc tcttttgctt taaactgcat
     3781 gctgccaagt gccatttggg gtcagcatcc tcgtttcaac acagtgtgct ctctagttat
     3841 catgtgtaac gtgggttctg tttagcgaag atagactaga ggacacgtta gagatgccct
     3901 tccctgctcc atccctgtgg caccattatg gttttttggc tgtttgtata tacggttacg
     3961 tattaactct ggaatcctat gggctcatct tgctcaccca atgtgggagt ctggtttgag
     4021 caagcgagct gaatgtgact attaaaaaaa atttaaaaaa aaaaaagaaa atcttatgta
     4081 ctatccaaaa gtgccagaat gactcttctg tgcattcttc ttaaagagct gcttggttat
     4141 ccaaaaatga aaattcaaaa taaactctga agaaaaggaa aa
//
LOCUS       NM_001010926            1324 bp    mRNA    linear   PRI 26-JUL-2023
DEFINITION  Homo sapiens hes family bHLH transcription factor 5 (HES5), mRNA.
ACCESSION   NM_001010926
VERSION     NM_001010926.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1324)
  AUTHORS   Morris HE, Neves KB, Nilsen M, Montezano AC, MacLean MR and Touyz
            RM.
  TITLE     Notch3/Hes5 Induces Vascular Dysfunction in Hypoxia-Induced
            Pulmonary Hypertension Through ER Stress and Redox-Sensitive
            Pathways
  JOURNAL   Hypertension 80 (8), 1683-1696 (2023)
   PUBMED   37254738
  REMARK    GeneRIF: Notch3/Hes5 Induces Vascular Dysfunction in Hypoxia-Induced
            Pulmonary Hypertension Through ER Stress and Redox-Sensitive
            Pathways.
REFERENCE   2  (bases 1 to 1324)
  AUTHORS   Chen LJ, Hu B, Han ZQ, Liu W, Zhu JH, Chen XX, Li ZP and Zhou H.
  TITLE     Repression of FBXW7 by HES5 contributes to inactivation of the
            TGF-beta signaling pathway and alleviation of endometriosis
  JOURNAL   FASEB J 35 (2), e20938 (2021)
   PUBMED   33496006
  REMARK    GeneRIF: Repression of FBXW7 by HES5 contributes to inactivation of
            the TGF-beta signaling pathway and alleviation of endometriosis.
REFERENCE   3  (bases 1 to 1324)
  AUTHORS   Luiken S, Fraas A, Bieg M, Sugiyanto R, Goeppert B, Singer S,
            Ploeger C, Warsow G, Marquardt JU, Sticht C, De La Torre C, Pusch S,
            Mehrabi A, Gretz N, Schlesner M, Eils R, Schirmacher P, Longerich T
            and Roessler S.
  TITLE     NOTCH target gene HES5 mediates oncogenic and tumor suppressive
            functions in hepatocarcinogenesis
  JOURNAL   Oncogene 39 (15), 3128-3144 (2020)
   PUBMED   32055024
  REMARK    GeneRIF: NOTCH target gene HES5 mediates oncogenic and tumor
            suppressive functions in hepatocarcinogenesis.
REFERENCE   4  (bases 1 to 1324)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S, Das
            PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A, Ginno
            PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of human
            transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   5  (bases 1 to 1324)
  AUTHORS   Gu S, Zhang R, Gu J, Li X, Lv L, Jiang J, Xu Z, Wang S, Shi C, Wang
            DP and Wu C.
  TITLE     HES5 promotes cellular proliferation of non-small cell lung cancer
            through STAT3 signaling
  JOURNAL   Oncol Rep 37 (1), 474-482 (2017)
   PUBMED   27878283
  REMARK    GeneRIF: HES5 might contribute to the proliferation of non-small
            cell lung cancer by STAT3 signaling.
REFERENCE   6  (bases 1 to 1324)
  AUTHORS   Liu J, Ye F, Chen H, Lu W, Zhou C and Xie X.
  TITLE     Expression of differentiation associated protein Hes1 and Hes5 in
            cervical squamous carcinoma and its precursors
  JOURNAL   Int J Gynecol Cancer 17 (6), 1293-1299 (2007)
   PUBMED   17388915
  REMARK    GeneRIF: expression significantly higher in squamous cervical
            carcinoma than in CIN as well as higher in CIN than normal cervical
            epithelia
REFERENCE   7  (bases 1 to 1324)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Integrative genomic analyses on HES/HEY family: Notch-independent
            HES1, HES3 transcription in undifferentiated ES cells, and
            Notch-dependent HES1, HES5, HEY1, HEY2, HEYL transcription in fetal
            tissues, adult tissues, or cancer
  JOURNAL   Int J Oncol 31 (2), 461-466 (2007)
   PUBMED   17611704
REFERENCE   8  (bases 1 to 1324)
  AUTHORS   Karlsson C, Jonsson M, Asp J, Brantsing C, Kageyama R and Lindahl A.
  TITLE     Notch and HES5 are regulated during human cartilage differentiation
  JOURNAL   Cell Tissue Res 327 (3), 539-551 (2007)
   PUBMED   17093926
  REMARK    GeneRIF: Human HES5 gene is coupled to the Notch receptor family and
            expression of Notch markers (including HES5) decreases during
            cartilage differentiation.
REFERENCE   9  (bases 1 to 1324)
  AUTHORS   Karlsson C, Brantsing C, Svensson T, Brisby H, Asp J, Tallheden T
            and Lindahl A.
  TITLE     Differentiation of human mesenchymal stem cells and articular
            chondrocytes: analysis of chondrogenic potential and expression
            pattern of differentiation-related transcription factors
  JOURNAL   J Orthop Res 25 (2), 152-163 (2007)
   PUBMED   17072841
  REMARK    GeneRIF: The HLH gene HES5 on the other hand was only detected in
            chondrocytes.
REFERENCE   10  (bases 1 to 1324)
  AUTHORS   Kamakura S, Oishi K, Yoshimatsu T, Nakafuku M, Masuyama N and Gotoh
            Y.
  TITLE     Hes binding to STAT3 mediates crosstalk between Notch and JAK-STAT
            signalling
  JOURNAL   Nat Cell Biol 6 (6), 547-554 (2004)
   PUBMED   15156153
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ272660.1, HY107217.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378453.4/ ENSP00000367714.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139246.21, DQ272660.1 and
            BX104111.1.
            On Nov 23, 2018 this sequence version replaced NM_001010926.3.
            Summary: This gene encodes a member of a family of basic
            helix-loop-helix transcriptional repressors. The protein product of
            this gene, which is activated downstream of the Notch pathway,
            regulates cell differentiation in multiple tissues. Disruptions in
            the normal expression of this gene have been associated with
            developmental diseases and cancer. [provided by RefSeq, Dec 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1324
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.32"
     gene            1..1324
                     /gene="HES5"
                     /gene_synonym="bHLHb38"
                     /note="hes family bHLH transcription factor 5"
                     /db_xref="GeneID:388585"
                     /db_xref="HGNC:HGNC:19764"
                     /db_xref="MIM:607348"
     CDS             100..600
                     /gene="HES5"
                     /gene_synonym="bHLHb38"
                     /note="hairy and enhancer of split 5; class B basic
                     helix-loop-helix protein 38"
                     /codon_start=1
                     /product="transcription factor HES-5"
                     /protein_id="NP_001010926.1"
                     /db_xref="CCDS:CCDS41233.1"
                     /db_xref="GeneID:388585"
                     /db_xref="HGNC:HGNC:19764"
                     /db_xref="MIM:607348"
                     /translation="MAPSTVAVELLSPKEKNRLRKPVVEKMRRDRINSSIEQLKLLLEQ
                     EFARHQPNSKLEKADILEMAVSYLKHSKAFVAAAGPKSLHQDYSEGYSWCLQEAVQFLT
                     LHAASDTQMKLLYHFQRPPAAPAAPAKEPKAPGAAPPPALSAKATAAAAAAHQPACGLW
                     RPW"
     misc_feature    472..531
                     /gene="HES5"
                     /gene_synonym="bHLHb38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TA89.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    586..597
                     /gene="HES5"
                     /gene_synonym="bHLHb38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TA89.1);
                     Region: WRPW motif"
     regulatory      1298..1303
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HES5"
                     /gene_synonym="bHLHb38"
                     /note="hexamer: AATAAA"
     polyA_site      1324
                     /gene="HES5"
                     /gene_synonym="bHLHb38"
                     /note="major polyA site"
ORIGIN
        1 gtccgcgcca gcccgggacg cgcttggcct tgcccgcgcc cgctcgcctc gtctcgcccg
       61 gcctccccgc gtcgcctcgt cgcctgttcc gcgccaggca tggcccccag cactgtggcc
      121 gtggagctgc tcagccccaa agagaaaaac cgactgcgga agccggtggt ggagaagatg
      181 cgccgcgacc gcatcaacag cagcatcgag cagctgaagc tgctgctgga gcaggagttc
      241 gcgcggcacc agcccaactc caagctggag aaggccgaca tcctggagat ggctgtcagc
      301 tacctgaagc acagcaaagc cttcgtcgcc gccgccggcc ccaagagcct gcaccaggac
      361 tacagcgaag gctactcgtg gtgcctgcag gaggccgtgc agttcctgac gctccacgcc
      421 gccagcgaca cgcagatgaa gctgctgtac cacttccagc ggcccccggc cgcgcccgcc
      481 gcgcccgcca aggagcccaa ggcgccgggc gccgcgcccc cgcccgcgct ctccgccaag
      541 gccaccgccg ccgccgccgc cgcgcaccag cccgcctgcg gcctctggcg gccctggtga
      601 cccggcggga cctgcgggcg cgcggcccga cgaccagagg gcgagcctgc tcctctcgcc
      661 tgtagggaag cgccttcccg ccgtcgtccg ccccgggctt ggacgcgccc ttctccggaa
      721 ggctctggcc ccaagctggc cggcccgcag gagccccatt ctcagagaat gtgtgtgcag
      781 agtccctgcc gttttaggac aatcagggcc catcttctgc caagtgtctg accccatggg
      841 gttgttctgt gtttgcattt aagcaagtga cttctgggaa gtccccggcc gcccggggtt
      901 ctatgatatt tgtagtgccg gggctcgcac actgctgccc ccagcctgta gaggactttc
      961 ttcagggccc gtagctgctg ggcgtacccc tggcaggcgg gctgtgccgc gggcacattt
     1021 gccttttgtg aaggccgaac tcgagctgta tcctcatagg aaacagtgat caccccggac
     1081 gggcgtccag gaccctgagg gccatggcca aaaggctcct gagtgtgcct ggtggtctgg
     1141 ctggggctca cggtgggctg tctggggagg gtgggtgcct ccactatgat ccttaaagga
     1201 ttcctctgtg tgggtggatg cgtgtgggca cgactttgta ctcagaaatt gaactctcag
     1261 tcacgtggaa gccacgggac tgctccgaag ccgccataat aaaatctgat tgttcagccc
     1321 ccaa
//
LOCUS       NM_001010939            1484 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens lipase family member J (LIPJ), transcript variant 1,
            mRNA.
ACCESSION   NM_001010939
VERSION     NM_001010939.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1484)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC031219.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371939.7/ ENSP00000361007.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL139406.14.
            On Jun 10, 2021 this sequence version replaced NM_001010939.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1484
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.31"
     gene            1..1484
                     /gene="LIPJ"
                     /gene_synonym="bA425M17.2; LIPL1"
                     /note="lipase family member J"
                     /db_xref="GeneID:142910"
                     /db_xref="HGNC:HGNC:21773"
                     /db_xref="MIM:613921"
     misc_feature    288..290
                     /gene="LIPJ"
                     /gene_synonym="bA425M17.2; LIPL1"
                     /note="upstream in-frame stop codon"
     CDS             315..1415
                     /gene="LIPJ"
                     /gene_synonym="bA425M17.2; LIPL1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     lipase-like, ab-hydrolase domain containing 1; lipase J;
                     lipase member J; lipase-like abhydrolase domain-containing
                     protein 1"
                     /codon_start=1
                     /product="lipase member J isoform 1"
                     /protein_id="NP_001010939.2"
                     /db_xref="CCDS:CCDS31240.1"
                     /db_xref="GeneID:142910"
                     /db_xref="HGNC:HGNC:21773"
                     /db_xref="MIM:613921"
                     /translation="MNISQIISYWGYPDEEYDIVTEDGYILGLYRIPYWRTDNNKNLAQ
                     RVVVYLQHGLLTSASSWISNLPNNSLGFILADAGYDVWMGNSRGNTWSRKHLYLETSSK
                     EFWAFSFDEMAKYDLPASIDFTVKQTRQEEIFYVGHSQGTTIGFITFSTISKIAERIKI
                     FFALAPVFSTKYLKSPLIRMTYKWKSIVMAFSGNKDFLPKTSFKKFIGSKLCPLQIFDK
                     ICLNILFMMFGYDPKNLNMSRLDVYFSHNPAGTSVQNMLHWSQLLNSTHLKAYDWGSPD
                     LNLVHYNQTTSPLYNMTNMNVATAIWNGKSDLLADPEDVNILHSEITNHIYYKTISYYN
                     HIDSLFGLDVYDQVYHEIIDIIQDNL"
ORIGIN
        1 agagactatg agggttcact atctgtttgc tggaagatat acaagacttt tgaggataat
       61 acttaaatga agatagaccg gatgtataat atgctttttc ttagctttcc tatgactcta
      121 cttagcaact tttgctaaaa gaaacacaat atatgactga ctactttgaa gacacatata
      181 ttggacactt aaaatcaaca aaagcagaga ggtcccaaac gtggtatctt ttcacaatga
      241 tgtattttat ccgaattctt ggaattactc atggtgtctt tcaaaattaa agatctgtga
      301 aacctgaagc agatatgaat attagccaga ttatttccta ctggggctac cctgatgaag
      361 aatatgatat tgtaaccgaa gatggttata tccttggcct ttatagaatt ccttattgga
      421 ggacagacaa taataaaaat ctagctcaga gggttgttgt atacttgcaa catggtttgc
      481 ttacatctgc cagcagctgg atttccaatc ttcccaacaa tagtctgggc ttcattctgg
      541 cagatgctgg ttatgatgtg tggatgggaa atagcagagg aaatacctgg tccaggaaac
      601 acttgtacct agaaacgagt tccaaagaat tctgggcttt cagttttgat gagatggcaa
      661 aatatgacct tccagcctct attgatttca ctgtgaagca aaccagacaa gaggaaatat
      721 tttatgtagg ccattcacag ggtactacta ttggtttcat aacattttct actatatcaa
      781 agatagctga aagaatcaaa atattttttg ctttagcacc agttttttcc acaaagtact
      841 taaaaagtcc tttaattaga atgacataca aatggaagtc aatagtcatg gctttttcag
      901 gcaacaaaga cttcttgcct aaaacctcat ttaaaaaatt cattggttca aagctgtgtc
      961 cactacagat ttttgataag atttgcctca atatcttgtt tatgatgttt ggatatgacc
     1021 caaaaaactt aaatatgagt cgtttggatg tgtatttttc acacaaccca gcaggaacat
     1081 ctgttcaaaa tatgcttcat tggagtcagc ttttaaattc tactcatttg aaagcttatg
     1141 actggggcag tcctgatctg aacttggttc attataatca gacaacgtct ccattataca
     1201 acatgacaaa catgaatgtg gcaactgcaa tttggaatgg taaaagtgac ttgttggctg
     1261 accctgaaga cgttaacatt ttacattctg aaatcacaaa ccacatttat tataaaacta
     1321 tttcttacta caatcatata gactctttgt ttggattaga tgtctatgat caagtttacc
     1381 atgaaatcat tgatattatc caagacaatc tataaagaac catggcgctg tgtgtttaaa
     1441 gatctacatc attcctaatg aaatccaatt cttatttttt ttta
//
LOCUS       NM_001010940             844 bp    mRNA    linear   PRI 16-JUN-2023
DEFINITION  Homo sapiens cilia and flagella associated protein 95 (CFAP95),
            transcript variant 1, mRNA.
ACCESSION   NM_001010940
VERSION     NM_001010940.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 844)
  AUTHORS   Gui M, Croft JT, Zabeo D, Acharya V, Kollman JM, Burgoyne T, Hoog JL
            and Brown A.
  TITLE     SPACA9 is a lumenal protein of human ciliary singlet and doublet
            microtubules
  JOURNAL   Proc Natl Acad Sci U S A 119 (41), e2207605119 (2022)
   PUBMED   36191189
REFERENCE   2  (bases 1 to 844)
  AUTHORS   Zhou S, Liu Y, Ma Y, Zhang X, Li Y and Wen J.
  TITLE     C9ORF135 encodes a membrane protein whose expression is related to
            pluripotency in human embryonic stem cells
  JOURNAL   Sci Rep 7, 45311 (2017)
   PUBMED   28345668
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 844)
  AUTHORS   Naylor MG, Weiss ST and Lange C.
  TITLE     A Bayesian approach to genetic association studies with family-based
            designs
  JOURNAL   Genet Epidemiol 34 (6), 569-574 (2010)
   PUBMED   20818722
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   4  (bases 1 to 844)
  AUTHORS   Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ and
            Smith RD.
  TITLE     Human plasma N-glycoproteome analysis by immunoaffinity subtraction,
            hydrazide chemistry, and mass spectrometry
  JOURNAL   J Proteome Res 4 (6), 2070-2080 (2005)
   PUBMED   16335952
REFERENCE   5  (bases 1 to 844)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   6  (bases 1 to 844)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N, Klika
            A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.252808.1,
            SRR5189667.389939.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000377197.8/ ENSP00000366402.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CD684431.1, BC150564.1 and CA502919.1.
            On Nov 22, 2018 this sequence version replaced NM_001010940.2.
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..844
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.12"
     gene            1..844
                     /gene="CFAP95"
                     /gene_synonym="C9orf135"
                     /note="cilia and flagella associated protein 95"
                     /db_xref="GeneID:138255"
                     /db_xref="HGNC:HGNC:31422"
     CDS             64..753
                     /gene="CFAP95"
                     /gene_synonym="C9orf135"
                     /note="isoform 1 is encoded by transcript variant 1;
                     uncharacterized protein C9orf135; protein CFAP95"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 95 isoform
                     1"
                     /protein_id="NP_001010940.1"
                     /db_xref="CCDS:CCDS35041.1"
                     /db_xref="GeneID:138255"
                     /db_xref="HGNC:HGNC:31422"
                     /translation="MDSLDRSCQDWCDRKQHWLEIGPPDLVERKGSLTLRSHHKKYSKP
                     VLVYSWHRDREAFPKGYDIEGPEKVKKLCNSTYRRLGTDESPIWTSETHEKLSQMCLNT
                     EWVEMKSKALLNEETVSSGIIERVTGLPATGFGAVFPRHPPDWSKMCALTTYSEDYVPP
                     YDYQPHAYPCQDDYSIVHRKCRSQFTDLNGSKRFGINTWHDESGIYANSDVKQKLYPLT
                     SGPIVPI"
     misc_feature    286..288
                     /gene="CFAP95"
                     /gene_synonym="C9orf135"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (Q5VTT2.1); glycosylation site"
     misc_feature    433..483
                     /gene="CFAP95"
                     /gene_synonym="C9orf135"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VTT2.1);
                     transmembrane region"
     regulatory      823..828
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP95"
                     /gene_synonym="C9orf135"
                     /note="hexamer: AATAAA"
     polyA_site      844
                     /gene="CFAP95"
                     /gene_synonym="C9orf135"
                     /note="major polyA site"
ORIGIN
        1 gttcctgccg ggcaggacag gtgcataggg aactcctcag aggtctgtac ctcgagggct
       61 cccatggata gccttgacag atcctgccag gactggtgcg acaggaagca acactggttg
      121 gagatcggac caccggactt ggtggagcgc aagggctccc tgaccctccg ctcccatcac
      181 aagaaatact cgaagccggt gttggtgtat tcctggcacc gtgacagaga agcttttccc
      241 aaaggttatg atatagaggg tcctgagaaa gttaaaaaac tgtgtaattc aacatatcgg
      301 cgactgggaa ccgatgaatc cccaatttgg acatcagaaa cacatgaaaa gttgtcacaa
      361 atgtgtttaa acacagaatg ggttgaaatg aagagcaagg ctttattgaa tgaggaaaca
      421 gtgagctccg ggattatcga aagggtcacc ggattgcctg ccacaggttt tggagctgtc
      481 tttcctagac atccaccgga ttggagcaaa atgtgtgcat tgacaacgta ctcagaagat
      541 tatgttccac catatgatta tcagccacat gcttatccct gtcaagatga ttattccata
      601 gtccacagaa aatgccgttc tcagttcacg gatctaaatg gttctaaaag atttggcatc
      661 aacacttggc atgatgagag tgggatttat gctaattcag atgtaaaaca gaaactctat
      721 cccttgacta gtgggcctat tgtgccaatt taaaaataat gtatagaatc agcatctctg
      781 actaatgaaa aatggatgta gcagttgatg attttctatc ttaataaatg caatggaagt
      841 gtta
//
LOCUS       NM_001010942           13378 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens RAP1B, member of RAS oncogene family (RAP1B),
            transcript variant 2, mRNA.
ACCESSION   NM_001010942
VERSION     NM_001010942.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 13378)
  AUTHORS   Zhang B, Ding J and Ma Z.
  TITLE     ICP4-Associated Activation of Rap1b Facilitates Herpes Simplex Virus
            Type I (HSV-1) Infection in Human Corneal Epithelial Cells
  JOURNAL   Viruses 15 (7), 1457 (2023)
   PUBMED   37515145
  REMARK    GeneRIF: ICP4-Associated Activation of Rap1b Facilitates Herpes
            Simplex Virus Type I (HSV-1) Infection in Human Corneal Epithelial
            Cells. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 13378)
  AUTHORS   Zhang,H., Tao,Y., Ding,X., Wang,Y. and Wang,X.
  TITLE     Roles of the hsa_circ_0013880/USP32/Rap1b axis in the proliferation
            and apoptosis of acute myeloid leukemia cells
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 55 (3), 382-393 (2023)
   PUBMED   36951484
  REMARK    GeneRIF: Roles of the hsa_circ_0013880/USP32/Rap1b axis in the
            proliferation and apoptosis of acute myeloid leukemia cells.
REFERENCE   3  (bases 1 to 13378)
  AUTHORS   Chen S, Li QH, Chen X, Bao HJ, Wu W, Shen F, Lu BF, Jiang RQ, Zong
            ZH and Zhao Y.
  TITLE     SNORA70E promotes the occurrence and development of ovarian cancer
            through pseudouridylation modification of RAP1B and alternative
            splicing of PARPBP
  JOURNAL   J Cell Mol Med 26 (20), 5150-5164 (2022)
   PUBMED   36056690
  REMARK    GeneRIF: SNORA70E promotes the occurrence and development of ovarian
            cancer through pseudouridylation modification of RAP1B and
            alternative splicing of PARPBP.
REFERENCE   4  (bases 1 to 13378)
  AUTHORS   Wang L, Song X, Yu L, Liu B, Ma J and Yang W.
  TITLE     LINC00665 Facilitates the Malignant Processes of Osteosarcoma by
            Increasing the RAP1B Expression via Sponging miR-708 and miR-142-5p
  JOURNAL   Anal Cell Pathol (Amst) 2021, 5525711 (2021)
   PUBMED   34306997
  REMARK    GeneRIF: LINC00665 Facilitates the Malignant Processes of
            Osteosarcoma by Increasing the RAP1B Expression via Sponging miR-708
            and miR-142-5p. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 13378)
  AUTHORS   Kawata M, Farnsworth CC, Yoshida Y, Gelb MH, Glomset JA and Takai Y.
  TITLE     Posttranslationally processed structure of the human platelet
            protein smg p21B: evidence for geranylgeranylation and carboxyl
            methylation of the C-terminal cysteine
  JOURNAL   Proc Natl Acad Sci U S A 87 (22), 8960-8964 (1990)
   PUBMED   2123345
REFERENCE   6  (bases 1 to 13378)
  AUTHORS   Siess W, Winegar DA and Lapetina EG.
  TITLE     Rap1-B is phosphorylated by protein kinase A in intact human
            platelets
  JOURNAL   Biochem Biophys Res Commun 170 (2), 944-950 (1990)
   PUBMED   1696481
REFERENCE   7  (bases 1 to 13378)
  AUTHORS   Matsui Y, Kikuchi A, Kawata M, Kondo J, Teranishi Y and Takai Y.
  TITLE     Molecular cloning of smg p21B and identification of smg p21 purified
            from bovine brain and human platelets as smg p21B
  JOURNAL   Biochem Biophys Res Commun 166 (2), 1010-1016 (1990)
   PUBMED   2105724
REFERENCE   8  (bases 1 to 13378)
  AUTHORS   Rousseau-Merck MF, Pizon V, Tavitian A and Berger R.
  TITLE     Chromosome mapping of the human RAS-related RAP1A, RAP1B, and RAP2
            genes to chromosomes 1p12----p13, 12q14, and 13q34, respectively
  JOURNAL   Cytogenet Cell Genet 53 (1), 2-4 (1990)
   PUBMED   2108841
REFERENCE   9  (bases 1 to 13378)
  AUTHORS   Bokoch GM, Parkos CA and Mumby SM.
  TITLE     Purification and characterization of the 22,000-dalton GTP-binding
            protein substrate for ADP-ribosylation by botulinum toxin, G22K
  JOURNAL   J Biol Chem 263 (32), 16744-16749 (1988)
   PUBMED   3141412
REFERENCE   10  (bases 1 to 13378)
  AUTHORS   Pizon V, Lerosey I, Chardin P and Tavitian A.
  TITLE     Nucleotide sequence of a human cDNA encoding a ras-related protein
            (rap1B)
  JOURNAL   Nucleic Acids Res 16 (15), 7719 (1988)
   PUBMED   3137530
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC095467.1, AB062128.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000250559.14/ ENSP00000250559.9
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB448914.1, AB062128.1,
            CX868584.1, AC015550.19 and AC090061.15.
            On Nov 22, 2018 this sequence version replaced NM_001010942.2.
            Summary: This gene encodes a member of the RAS-like small
            GTP-binding protein superfamily. Members of this family regulate
            multiple cellular processes including cell adhesion and growth and
            differentiation. This protein localizes to cellular membranes and
            has been shown to regulate integrin-mediated cell signaling. This
            protein also plays a role in regulating outside-in signaling in
            platelets. Alternate splicing results in multiple transcript
            variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6
            and 9. [provided by RefSeq, Oct 2011].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..13378
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q15"
     gene            1..13378
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /note="RAP1B, member of RAS oncogene family"
                     /db_xref="GeneID:5908"
                     /db_xref="HGNC:HGNC:9857"
                     /db_xref="MIM:179530"
     misc_feature    157..159
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /note="upstream in-frame stop codon"
     CDS             172..726
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /EC_number="3.6.5.2"
                     /note="isoform 1 precursor is encoded by transcript variant
                     2; RAS-related protein RAP1B; ras-related protein Rap-1b;
                     small GTP binding protein; Ras family small GTP binding
                     protein RAP1B; GTP-binding protein smg p21B"
                     /codon_start=1
                     /product="ras-related protein Rap-1b isoform 1 precursor"
                     /protein_id="NP_001010942.1"
                     /db_xref="CCDS:CCDS8984.1"
                     /db_xref="GeneID:5908"
                     /db_xref="HGNC:HGNC:9857"
                     /db_xref="MIM:179530"
                     /translation="MREYKLVVLGSGGVGKSALTVQFVQGIFVEKYDPTIEDSYRKQVE
                     VDAQQCMLEILDTAGTEQFTAMRDLYMKNGQGFALVYSITAQSTFNDLQDLREQILRVK
                     DTDDVPMILVGNKCDLEDERVVGKEQGQNLARQWNNCAFLESSAKSKINVNEIFYDLVR
                     QINRKTPVPGKARKKSSCQLL"
     mat_peptide     172..714
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /product="Ras-related protein Rap-1b. /id=PRO_0000030209"
                     /note="propagated from UniProtKB/Swiss-Prot (P61224.1)"
     misc_feature    244..372
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /note="propagated from UniProtKB/Swiss-Prot (P61224.1);
                     Region: Interaction with KRIT1.
                     /evidence=ECO:0000269|PubMed:22577140"
     misc_feature    265..291
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /note="propagated from UniProtKB/Swiss-Prot (P61224.1);
                     Region: Effector region. /evidence=ECO:0000305"
     misc_feature    706..708
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:8463283; propagated from
                     UniProtKB/Swiss-Prot (P61224.1); phosphorylation site"
     misc_feature    712..714
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /note="Cysteine methyl ester.
                     /evidence=ECO:0000269|PubMed:2123345; propagated from
                     UniProtKB/Swiss-Prot (P61224.1); methylation site"
     regulatory      1962..1967
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /note="hexamer: AATAAA"
     polyA_site      1999
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /note="major polyA site"
     regulatory      2049..2054
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /note="hexamer: AATAAA"
     polyA_site      2082
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
     regulatory      2256..2261
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /note="hexamer: AATAAA"
     polyA_site      2274
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
     regulatory      2357..2362
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /note="hexamer: AATACA"
     polyA_site      2377
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
     regulatory      2827..2832
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /note="hexamer: AATAAA"
     polyA_site      2848
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
     regulatory      6338..6343
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /note="hexamer: AATAAA"
     polyA_site      6361
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
     regulatory      13351..13356
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
                     /note="hexamer: AATAAA"
     polyA_site      13378
                     /gene="RAP1B"
                     /gene_synonym="K-REV; RAL1B"
ORIGIN
        1 gacatcgcca aacctcgccc agattcaggc gtgtaaacca gccggagcgg cgcggcagcg
       61 gcaggaccgc cgtggcgcct agagtagcga cccgggggga gcgcggggcg acgctggctg
      121 cagggacccg gtgacagcgt gagaggtact aggttttgac aagcttgcat catgcgtgag
      181 tataagctag tcgttcttgg ctcaggaggc gttggaaagt ctgctttgac tgtacaattt
      241 gttcaaggaa tttttgtaga aaaatacgat cctacgatag aagattctta tagaaagcaa
      301 gttgaagtag atgcacaaca gtgtatgctt gaaatcttgg atactgcagg aacggagcaa
      361 tttacagcaa tgagggattt atacatgaaa aatggacaag gatttgcatt agtttattcc
      421 atcacagcac agtccacatt taacgattta caagacctga gagaacagat tcttcgagtt
      481 aaagacactg atgatgttcc aatgattctt gttggtaata agtgtgactt ggaagatgaa
      541 agagttgtag ggaaggaaca aggtcaaaat ctagcaagac aatggaacaa ctgtgcattc
      601 ttagaatctt ctgcaaaatc aaaaataaat gttaatgaga tcttttatga cctagtgcgg
      661 caaattaaca gaaaaactcc agtgcctggg aaggctcgca aaaagtcatc atgtcagctg
      721 ctttaatata ctaaatgcat tgtagctctg agccaggtct gaagaactgt tgcccaattc
      781 aacagtgcca gcattccaac tttgttaaac ctaccaacat cttaaatgga ctttcctgtg
      841 gtggtaccct ttaagaggcg gatgaaagct actatatcag tttgcacatt ctaatcactt
      901 tccagtatca caagagagat ttttacttat ataatagtcc tagagtttgc agctggtaaa
      961 accagaggct acatccagta ttactgctaa gagacattct tcatccacca atgttgtaca
     1021 tgtatgaaaa tggtgtactg tatactttaa catgccccat actttgtatt ggagagtaca
     1081 ataatgtaaa tcctaaaagc accactattt tagcataata aaagaaagtc caaagagctc
     1141 ctatatagac tactccagat aacttcgctt ctttgatact tgtagcttat tgtaattttt
     1201 tttaagaaat tcaaggtcat tattattgta caaaataagc gctttgatta acacagctat
     1261 atagtttttt taatttttaa aaaacctgtg gagacggtga tcttgtcttt aaaacatgat
     1321 agtcctttca gtataatgtc ttagattaaa gacgttgcct ttaatatctg ttgggaagga
     1381 aatgtccaga cttttcaaat ctcttattat atgtttcctt tttttgttta catagggaac
     1441 aatgtttata gtcgtgtgta cagtgggggt ctacaacaag aagtgtatat tttcaaacaa
     1501 ttttttaatg atttaacaat ttttgtaaat cattttcagg cttctgcagc tgtagattct
     1561 cactgtgaat cccttgcttg ctcatgcata agtgtatttg caataccaaa tatacaggtt
     1621 tagtattttt gcctgttagt gattgtttca catgtgtaac gttttggttg agatgttaaa
     1681 tggtggacga gtactgtgga tgtgaatgtg ggaagtaatt ttaatcatat gtaattggtc
     1741 acaaggccta atttgcagta actattgctg ttttatttaa caatgccttg ttgctttgta
     1801 tgcattaatg tttggatgta aagattgtgt gtctatccaa cagggagcca cagtatttaa
     1861 attgaccaac ctaatgttac aactactttg aggtggccaa atgtaaacta aaagccttaa
     1921 ttaaagtggt gcaattttgt ataacttagc atcagtagtt caataaattt ggattgccat
     1981 gcaagggctt gcattataat tacttgccac ttgaatgtgt tttgtgtaat gttttaacag
     2041 tgctagtaaa taaatacggg tttaccctgg ttttaattgt aataggtgca ttttacacag
     2101 catggtttca taatttaaca tctgggcaag ccagactcat taattacagg aataaggaag
     2161 tagcgagttt tctggtattg tttgaatatc cacataacca ccttttgaac ttttccttga
     2221 gaaataattt tgtaaatcaa gcagtattac ttacgaataa atgcctttgg gtaatgttca
     2281 gtagctattt gatgaggtag gtaaaagagg aacgatttaa catactttca tggatgttac
     2341 actatggatt ttttaaaata caggattgaa gttagaatat tgtggttata aaaatctttg
     2401 agtgatgtgg attaagcact tagagaatcg atatttttct taaatatgct ataattgaat
     2461 tctgtaagaa ctgaattctt atagaattat tttaaaactt tttaaaaatt gtaaagctct
     2521 taaaaaactt tttgaaagta tttgccagct actggagcaa ttaatcagtg ataatatcta
     2581 atagaggggt atctgctaat cccctaaata cacgctgttt gaatgataca tttttaaagg
     2641 ctttcatgtt aagaaaaagt ctgattcttt acaaaaggga cttgttttgg cagaactggt
     2701 tttatttata atcatttggg aaaaaaatta agcccaaaaa actgggactg tgaaacacta
     2761 aaattacttc aatttactat gtcctgttac atccattgat accgccatta ttcaataatt
     2821 acttttaata aatgtttgct gcctaccagc tatgtaccag gcccagttct aggctcaaac
     2881 agctaaatat tcattcattg gacaaattaa gtacttaagt ataaaaattg ttctaggcct
     2941 aaggatgtag cagcaaccaa gatcaactat aaaatgctgc cctcctagaa tttatattct
     3001 attgaagagt ttctcagcct cagcactatt gatgttttat gtttgataat gtattctggc
     3061 gactctcctg tgcattatag gaattttaat atctgcccac tagatgccag tcacaccacc
     3121 ccagccccca agttgtggca accaaaaatg tttccagaca ttgccagatg ttccccagtt
     3181 ggattgttgg gggacaaggg aggtgaactt ggagggcaaa atcaccctgg tgaagaacta
     3241 ctgctctggt gggaaacaac acattagtta cagatgagtg ttagggttac aagatggatg
     3301 gtttactata tagtgaataa gaatataaag tttggagcca gacttcctgg gtttttaatc
     3361 ccagctcttc cagttcctac tatatgcctt tggttgggtg ccttggtttc ctcatctgta
     3421 aaatgagaat gataatacct acttcatagg agagtgaaat gaatgccagt gctatcctct
     3481 aggtctatat atatatatat atatatatat tatatatagt acatatatag agagagtata
     3541 tatatatatg tagtacagtg gaggtctata taatactata tatataattt atttttttca
     3601 atgctgatag gaataaggct gtggtttggc aaaaagcacc attttctcct atacaaaata
     3661 gtaactgcag tttgggagca caactcatgt agattgactt ttctggtgct taatgggaaa
     3721 atactaaaat aattgagtca gaaaaggcat gaattccttt tcacgtcccc aaggatactt
     3781 gaagaaactt gagttttagg agaaaatcag agtggtcttt cacttacatt tttctaaaaa
     3841 gtgtaaaaac cctgtattga ctttcttgtt gattcagttg tttcttaaac gtaaatagct
     3901 catctttacc atatgtgggc attacaaata gaaattttta aaattccatt tataaaatga
     3961 agttttgccg tttttttttt taaatcattc cgtctttagt tgtgggacag caaacttaga
     4021 atcgaaactc atcactacaa cttttctttg agttaaactc ttatctgtgt tttcattgaa
     4081 tttaatctcc atctattcta tctcttctta aatcttggaa atgtaaaagg gagttatagt
     4141 gttttacaat taatactctt actattacct tagaagcctt aaaagtgctt gcaggcttgt
     4201 ctcataatct gtcagtgagc cttaacattg tgatttgtaa gactaaaatt tttttttcaa
     4261 acaaaacaaa tctgacagcc tgggcaacat agaccccatc tctacaaaaa aaaatttttt
     4321 tttaattagc tgggcatggt ggtgcacgtc tgtacctgta gtcccagcta ttcagaagga
     4381 ttgcttgatc ccaggagatc aaggatacag tgaactgtgt tcgcgccact gcacccccac
     4441 gatggcaata gagtgagacc ctgtcttaga aaaaaaagat aaataagtct gttctatttg
     4501 ttacagtgca tcaacacatt tgaattttct ttttttttct ttttcttttt tttttttgag
     4561 actgagtttc gctcttgttg cccaggctgg cgtacagtgg tgcgatcttg gctcacccca
     4621 acctctgcct cccaggttca agcaattctt ctgcctcagc ctcctgaata gctgggatta
     4681 caagcatgca ccaccacgcc tggctaattt tgtatttttt ggtagagatg aggtttctcc
     4741 atgttggtta ggctggtttc gaactcccga cccaggtgat ccgcctgcgt cagcctccca
     4801 aagtgctggg attacaggtg tgagccaccg cacccagcct aatcaataca tttgatattt
     4861 caagaataca tgagagaaga gaggtagatt gagaacagaa ctaaacttta tatatgtttc
     4921 cttaactatt gggaggaaaa tggatgagtc tgtgttggga tacctgttga aacaagacta
     4981 ctaaacagat taatcaacta attccatagg cttgacatta gtttatcttt gaaaagtaaa
     5041 agtaaagtgc ttattgctaa ataggtctgt attctaaatg ctgccatttt ttaaaaaaag
     5101 tattccatgt tacacacatt ttaaacttgc ttcttaaaac atccctgttg gtggcctgta
     5161 ggttactgac cttaggaatt acaggcttta tccaaaatta ggcatatcta cctgattttt
     5221 gtatctgaga atcaataaat gcattcagta ttctctaccg tgtttcaggc gctgtttaca
     5281 atatcggagg tacagcaggg attttctgcc cacgtgggga aaacacacag caaatgaaca
     5341 aagctctatt ggtaacagtc tgttaaactt tctaagagct ttccaacttt ctaagagaaa
     5401 attgtaatga ttttagaaaa gtgagctgtc atttttcata tatataaatt tttttattca
     5461 taggtaatct aatttttctc atttctccaa aagggtacga agacagtttt tactatgttg
     5521 ttttactatg aacctagttt aacctgactt tccttacaga cccacataaa tgagacaatc
     5581 caaatttagt atttgggtca aaatgcaggg ttttttcctg aaaacaaaac agcacacaca
     5641 tatattacag gatttttatg taataatata ttcacttcag tcaggtttca gtttttaaat
     5701 aggcagagat caaaagcctc taatgttttt gtcatccgcc attattaccc attcaaattt
     5761 ctatttatgt ctggtagtta tgtcccctgt gagcactaat ttcagaacag gaaattctat
     5821 taactgtcaa actctttaat gtgcagtgca gtaggtttgg agcagagggg agtaggaagg
     5881 agtaaatgat ataatccagt ctggcctggc atggtggctc acacttgtaa tcccaatgct
     5941 ttgggaggcc gagatgggtg gatcactgga agccaggagt ttgagacaag cctggccaac
     6001 atggtgaaac cccgtctcta ctaaaaataa caaaaattag acgggcacgg tggtgtgtgc
     6061 ctgtaatccc agctactcag gaggctgagg caggagaatc acttgaacct gggaggccga
     6121 ggttgcagtg agctgagatc acaccactgc acttcagcat gggcaacaga gtgagactgc
     6181 aaaaaaaaga aaaagaaaaa aaaatccagt ctctgctggc aaggtgttta acaagtcaat
     6241 gatgggaaag accagtcaaa taaactatca gatctaataa cttttctaac cataggtgat
     6301 tcttcttcca ttatccatac taaagcaagt gactcataat aaaaattgtt attttgtaaa
     6361 atatatggac tgtttgcttt atattcccaa ctattacatc tggttgacta ttaacaggtc
     6421 aatgtcagat ttcctgagca aatcaaccaa taatgaaaaa ctatgtggct ggcagaaaaa
     6481 aataagtgcg tgtggtggtg cttgcctgta atcccagctg cttgggaggc tgaggtagga
     6541 ggaactcttg agctccggtg gtttgaggcc agcatggata acatagggag accctgtcac
     6601 ttgacaaaag tatctttccc tactggaaat ggaatagaat cggatgggta tggtacagca
     6661 ggtagttatg gggagacctc tactgttcta aatgagacta atagtaaatg ttacataact
     6721 aaagcaacag atttgccagc tgtgtgaaag ataacccaga gaggggtaat ggtagagcca
     6781 gaattaacac agccagcttg tcagctacct ttgaacatgt attttctgtg cagtcagatt
     6841 tgaagggttg gaccttggag ttactgacat tggaggcaac tgaaaccatg agtgtgaatg
     6901 aaattatttt cgtaagaatt acttggggtt aaaaatagta ataaaaagga aagcctggcc
     6961 taaacagtct tgggatgggg agaagggttg gagtacaaag gattgctatt acaaagacat
     7021 gggcagagaa caaggcaaat agctgagcag caattgagaa tacagcatct tttatggcaa
     7081 agagcaaaat actattgttc ctcttctagt atgctataga ccagcagtaa ttttgtgctc
     7141 taaaatgctt atttttatct ctctgtatat acttggtggt gaatttgcta caaatgtaag
     7201 gagatgatgg gatagttttt ggaaatacca tcctctaatt agtaccaggt ctatgtatat
     7261 ctgcagcaac tataaagtct gtttcagagt cagtattggc aaacttatat ttaaattcag
     7321 ctgtaacaag acatcttttt tttttttttt gagagagtct ggctctgtca cccaggctgg
     7381 tgtgcagtgg cgcgatctcg gctcactgca acctccgcct cccaggttca agcagttctc
     7441 tgcctcagcc tcccgagcag ctgggattac aggcatctgc caccaagccc tgctaatttt
     7501 tctattttta gtagagacgg ggtttcgcca tcttggccag gctggtcttg aactcctgac
     7561 ctcgtgatcc atctgcttca gcctcccaaa gtgctgggat tactggcatg agccactgcg
     7621 cccggcaagt tgtctttcaa atatatgcct ttgcagtatt tctctacttc cccagtaatg
     7681 taaactttat tttctctcaa ttttcgtaag tggtattttg gtgctttacc caaaatatta
     7741 gggagaaaat tcttcttttt aattggattc tcgtatgttg atctatttct attgttttct
     7801 aaaaaaaagt tagtgtccta gtttaaaagt atatattagt ttcctagggc tgctgtaaca
     7861 aattatcaca aatttggtgg cttaaagcaa cagaaatgta ctctttcaca gttctgaagg
     7921 tcgaagtcca aaatcaaagt gttaggatgt actcctagag gctctcggag agaacctgtt
     7981 cccatggcat tatgccacat cacatgtgcc tctatctttg tatctcctcc tctctataat
     8041 ctttctttta aaaggacaat tgttttgaca tttagggctt acccacatac ttcaggataa
     8101 tctcatctca aaatgcttaa tcacatctgc aaagacactt ttttcaaata aagttaacag
     8161 acagaagttt gggggttggg atgtggacat gcctttggga gccattaaca acctaccaaa
     8221 acattttaac aatttttcag taccaaagac tagtatgggt ctgctccaag ataactcaaa
     8281 acattctgaa ctgaatcagc agaccctcag gtctccctag agagatcctg agcacctagg
     8341 aaagccccag aattaagcta ctctacaagg attctgaggg aagtctggga ttaggtgaga
     8401 ctttaatgag tccatcagag gtttagtatg gactagttct acagttccag aagcaacata
     8461 ctgggtatgg aatattgtta accattgtca tcccacagaa ttaccttcta cttgtgtcag
     8521 tatatatcct gcctacccta catattttat atttatcaat gatgacagaa acttcccccc
     8581 ttttacttag atctaatagt aatataacaa acttttcttt ttcattttca gacatatcca
     8641 gagggttttc tcttcatctc acgcatccca cctttaatca gacatatgtg attcatatga
     8701 gagaaaatta gtgtttctga gaccaaatgg tggtgtttat aagattttgc ttctgcactg
     8761 aattcaatgt tttatttact gcttggttat tttgtttttg ttttttaaga aatgggagga
     8821 gtgtaatatc tagaggtaca tgaaaaaaag aaatggaagg aatggacagg cccagaatta
     8881 aatgataaaa actcatctgg ttggaatgaa gtacactgaa catttgagga agttagagat
     8941 taattcaacc cagtgggttt tggggttttt atatgtgtta gtacattcag cgttagggtt
     9001 gggtttcttg tctctgtaat cacttctcaa aaatgaattt gggcttctcc agatagcctt
     9061 tttatccatt tattatttca agtaatggta taaggaaatt gtaaccattt gtgtgcttta
     9121 catgtttaag atacaaactt acagttccca gaagtcaatt cagtcattct ctataagagc
     9181 tgttgtggaa aaagttctca cttcacttac tcattccttt gcattttcca actttagtaa
     9241 agcatgactt catgccttgg atcatacagg atttcaacgg gagatttata agtctatttt
     9301 gttagaataa aaagcaataa tacttcctga aatacatctt gggctctttg cagaagctga
     9361 actatctggt aattactatt tagcaaacag ctaacagcta gctcttaatt tttcagaaat
     9421 aagaggacat cattggccac tatcatacca ctaattttat tccaccaatg ctttcacaga
     9481 ggatgtcacc aaagaaagaa gtggcatcca ctacccctcc cccatccttc cactctgaac
     9541 cagtacagga tattctcatg gtcagggcat tctctccttg gcaggatgta gttaatgaca
     9601 tatgcagaat taatgacttg gttgccctag gccccccgtc aaggcttttg ttcaagggag
     9661 agtaaagagg ataggtctca gtatgtcatc caaacaggat ggatacagaa tgccaaccag
     9721 gttagccctg gcaagttaag acattttaca gtgccactac ctacctccat actgtatcag
     9781 aggagccagt tgcacagtgt tgatctccct aagactatta taataaggaa ggggtttttt
     9841 tcttagccca gttactacta aaactcactc agaggagcaa gtgaaatttg tcacaattgg
     9901 ctcgactgct ttatctcact ttgaaaaaga aaagttacaa attctagtaa gcaaaagatt
     9961 ttttgtgacc aggtctccct gacctgcaca aaataaactc ttcatgagtt aaaccaaaac
    10021 agatttaatg tctaaactta aatctagttt gacattaact tcttttccaa agagaaataa
    10081 cgttaacaat ctgaaatcat ccctgcacag actttcttgg ctcttctttt ctgccgtcct
    10141 atgaatcaca aatagaagtt taagaaagct gtcaggtagg cgcctcaaat tcatttaaaa
    10201 tgaggaatga tgaaagaata agaaaaacca gcaaatgata gcttacttat tcagttattt
    10261 ggcttgatac tgcttgaaag tgacatttct agattaaaga tctgataagc tctgatagtt
    10321 gggaaataat actagttatt tcttggacac cctaagatgt gccaccattg ctctaagcac
    10381 tttacatgtg ttgttcaacc ctcagcaatg ctatgaaata ggggctgagt ctcctaatag
    10441 agctaatgaa tgcattatat caaaagaatg aaatgttaaa tatagacact ggaaaataaa
    10501 attacttttg cttgtattat aagtgaatac cttgaaagct caaaaaaatc tattagaagt
    10561 attcaggaac ttggctggat ataagataag catgccaaaa atcaatagct tttctttata
    10621 tttataaaaa atacctacaa gttgatatag taaacacgac agataaaaac taaatgcctt
    10681 aaggtataag gctaagaaag aactattata aactcttatt gaaggacata aatcaagatc
    10741 tgaacaaata cactgggaag ataatatcat aaaaatatca attcccccaa attagcatgt
    10801 taatgtataa tgattacaat ttaaatttca actggctgag gctttgtttt tgtttttgat
    10861 tttttaatag actggatgtt ggtcttgaac tcctgggctc aagcaagtgt cacaccttgg
    10921 cctcccaaag tggattatag gcatgagcca ccgtgccaga cttgggtgag gttttgaaat
    10981 tgaaattaag caaaatgggc cgggcacggt ggctcacacc tgtaatccca gcactttcgg
    11041 aggccgaggg gggcggatca cgaggtcagg agatggagac catcctggct aacatggtga
    11101 aaccccgtct ctactaaaaa tacaaaaatt agccaggcat ggtggcaggt gcctgtaatc
    11161 ccagctactc tggaggctga ggcaggagaa tcgcttgaac ccaggaggca gagggtgcag
    11221 tagctgagat tgtaccactg cactccagcc tgggtgacag agcaaatctc tatctcaaga
    11281 aaaagaaaaa agaaaagaaa ttaagcaaaa tgatcttaaa gttcaagtga aagagtagag
    11341 tagaactgag tccagaacta gattccagta tatgacgttt atacgtgaca aaaatatatt
    11401 tctttttctt tctttttttt tttttttttt ttgagacagt ttccctcttg ttgcccagac
    11461 tggagtataa tggcacgatc ttggttcacc acaacctccg cctcccaggt tcaagtgatt
    11521 ctcctgcctc agcctcccga gtagctggga ttacaggcat gtgccaccac gcctgggcta
    11581 attttgtatt ttagtagaga tggggtttct ccatgttggt caggctagtt gcgaactccc
    11641 aacctcaggt catctgcccg cctcagcctc ccaaagtact gggattacag gtgtgagcca
    11701 ctgtgcccgg ccgacaaaaa tatatttcaa tagaaaatag tatcagtaaa atgctagcac
    11761 aactaactat ctgtctaaag acaataaaag ttcaacccct atatcatgca aaaagcactt
    11821 tccagatata ttaaaatgtt ttcaagctat aaagtaaaac agtagaagtc ttagaagaaa
    11881 atctaagaga ctagaaatct agagataggg tagaccttct tagctaattt ttaaaaatga
    11941 agctatattt aagatatata tttcaagtaa ataataagtg tgtgtgtgtg tacacacaga
    12001 tgcttctcag cttacaatgg ggttatgtcc caataagccc atcagaagtc aaaaatgtaa
    12061 gtcgaaaatg catttaatac cctgataaat ccatcacaaa gctgaaaaat tataagtaaa
    12121 actgtaagtc acagactgta tatataaatt taaaatttgg caaaatatat tgcaaagtca
    12181 aatttgggaa agtatagcac agataaaaga ttaaactatt cacggccagg cacggtggat
    12241 catgcctgta atcccaacac tttgggaggc cgaggcgggt ggatcacctg aggtcaggag
    12301 tttgagacta gcctggccaa cgtggagaaa ccccatctct actaaaaata caaaattagc
    12361 tgggtgtggt ggtgcatgcc tgtaatccta gctactcagg aggctgaggc aggagaattg
    12421 cttgaaccta ggaggcgaaa gttgcagtga gccaagatgg tgccattgca ctccagcctg
    12481 ggcaacaaga gtgatactcc gtttaaaaaa aaaaaaaaaa aaaaaggtaa actattcaaa
    12541 agataaatgg ttgaaagata tataactagg cagtttagat aagaacaaat ccaaatggcc
    12601 catcaacata aaaagatgct ctaactgtag ccagagaaat acgaatcaaa gtaccaacga
    12661 gcccaacaca tggacgaaaa cttcagagaa cactacagtc ccagaagaga ggtaaagggc
    12721 aagaaatgaa tcatttattg ctgatggaaa tgtgcattgt agagctgata tctgttcaaa
    12781 ttaaatatgc atatttgacc tcaattctac tactgatatc tacaccaagg aaatgaaagg
    12841 aaatgcacaa gattatttat tgccacactc tagaaggaaa aacagagtgc atgcccatca
    12901 atagaatagt tgaataaatt atgattcatg cataatatag aacattatgc attcatttaa
    12961 aaatgagttt gatgtttaaa ggttgactta gaaggattcc cgtgcaaagt gaacaaaaca
    13021 gaataccgag aaggatgtat gtgagggatg catgtgggca cctgggaaag gagatgaaga
    13081 aagcaactga aggatattta ccaagttgtt aatatgcatt acctgacatg gtgatatagg
    13141 agtaggggtg aggaagtgaa ggatctgagt aggtggaaaa agaaaagcaa aagtacaaca
    13201 gcgggagaaa aaacaggatg actcgtctag aagagacatt gtcagtaaca agtaaataac
    13261 attttctgga atataaaaaa aaaagctata tgaatgtcat cattatatgt aaaatatgaa
    13321 tgtaaaatac atgggaggat aatatgcatt aataaaaatt atggtgctgg caacagta
//
LOCUS       NM_001010969            2535 bp    mRNA    linear   PRI 10-SEP-2020
DEFINITION  Homo sapiens cytochrome P450 family 4 subfamily A member 22
            (CYP4A22), transcript variant 1, mRNA.
ACCESSION   NM_001010969
VERSION     NM_001010969.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2535)
  AUTHORS   Durairaj P, Fan L, Machalz D, Wolber G and Bureik M.
  TITLE     Functional characterization and mechanistic modeling of the human
            cytochrome P450 enzyme CYP4A22
  JOURNAL   FEBS Lett. 593 (16), 2214-2225 (2019)
   PUBMED   31199497
  REMARK    GeneRIF: Study demonstrate that the CYP4A22 gene codes for an active
            enzyme. It catalyzes the hydroxylation of both lauric and myristic
            acids. The structural model of CYP4A22 and substrate docking
            experiments suggest that its broadened spectrum of catalyzed
            reactions results from increased residual mobility of active site
            residue Phe320 and that arginines Arg96 and Arg233 are essential for
            substrate recognition.
REFERENCE   2  (bases 1 to 2535)
  AUTHORS   Goldstein JI, Jarskog LF, Hilliard C, Alfirevic A, Duncan L,
            Fourches D, Huang H, Lek M, Neale BM, Ripke S, Shianna K,
            Szatkiewicz JP, Tropsha A, van den Oord EJ, Cascorbi I, Dettling M,
            Gazit E, Goff DC, Holden AL, Kelly DL, Malhotra AK, Nielsen J,
            Pirmohamed M, Rujescu D, Werge T, Levy DL, Josiassen RC, Kennedy JL,
            Lieberman JA, Daly MJ and Sullivan PF.
  TITLE     Clozapine-induced agranulocytosis is associated with rare HLA-DQB1
            and HLA-B alleles
  JOURNAL   Nat Commun 5, 4757 (2014)
   PUBMED   25187353
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2535)
  AUTHORS   Lino Cardenas CL, Renault N, Farce A, Cauffiez C, Allorge D,
            Lo-Guidice JM, Lhermitte M, Chavatte P, Broly F and Chevalier D.
  TITLE     Genetic polymorphism of CYP4A11 and CYP4A22 genes and in silico
            insights from comparative 3D modelling in a French population
  JOURNAL   Gene 487 (1), 10-20 (2011)
   PUBMED   21820496
  REMARK    GeneRIF: Data suggest that results could be helpful for further
            investigations of the potential role of CYP4A variants in the
            genetic susceptibility to cardiovascular diseases such as arterial
            hypertension.
REFERENCE   4  (bases 1 to 2535)
  AUTHORS   Gajendrarao P, Krishnamoorthy N, Sakkiah S, Lazar P and Lee KW.
  TITLE     Molecular modeling study on orphan human protein CYP4A22 for
            identification of potential ligand binding site
  JOURNAL   J. Mol. Graph. Model. 28 (6), 524-532 (2010)
   PUBMED   20079672
  REMARK    GeneRIF: A homology model has been constructed for CYP4A22 and
            refined by molecular dynamics simulation.
REFERENCE   5  (bases 1 to 2535)
  AUTHORS   Hiratsuka M, Nozawa H, Katsumoto Y, Moteki T, Sasaki T, Konno Y and
            Mizugaki M.
  TITLE     Genetic polymorphisms and haplotype structures of the CYP4A22 gene
            in a Japanese population
  JOURNAL   Mutat. Res. 599 (1-2), 98-104 (2006)
   PUBMED   16806293
REFERENCE   6  (bases 1 to 2535)
  AUTHORS   Gainer JV, Bellamine A, Dawson EP, Womble KE, Grant SW, Wang Y,
            Cupples LA, Guo CY, Demissie S, O'Donnell CJ, Brown NJ, Waterman MR
            and Capdevila JH.
  TITLE     Functional variant of CYP4A11 20-hydroxyeicosatetraenoic acid
            synthase is associated with essential hypertension
  JOURNAL   Circulation 111 (1), 63-69 (2005)
   PUBMED   15611369
REFERENCE   7  (bases 1 to 2535)
  AUTHORS   Nelson DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   8  (bases 1 to 2535)
  AUTHORS   Bellamine A, Wang Y, Waterman MR, Gainer JV 3rd, Dawson EP, Brown NJ
            and Capdevila JH.
  TITLE     Characterization of the CYP4A11 gene, a second CYP4A gene in humans
  JOURNAL   Arch. Biochem. Biophys. 409 (1), 221-227 (2003)
   PUBMED   12464262
  REMARK    Erratum:[Arch Biochem Biophys. 2003 Apr 1;412(1):153]
REFERENCE   9  (bases 1 to 2535)
  AUTHORS   Kawashima H, Naganuma T, Kusunose E, Kono T, Yasumoto R, Sugimura K
            and Kishimoto T.
  TITLE     Human fatty acid omega-hydroxylase, CYP4A11: determination of
            complete genomic sequence and characterization of purified
            recombinant protein
  JOURNAL   Arch. Biochem. Biophys. 378 (2), 333-339 (2000)
   PUBMED   10860550
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY280371.1, BC148248.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2145122 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371891.8/ ENSP00000360958.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC148248.1 and AL135960.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001010969.3.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This gene is part of a cluster of cytochrome P450 genes on
            chromosome 1p33. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Apr 2015].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2535
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p33"
     gene            1..2535
                     /gene="CYP4A22"
                     /note="cytochrome P450 family 4 subfamily A member 22"
                     /db_xref="GeneID:284541"
                     /db_xref="HGNC:HGNC:20575"
                     /db_xref="MIM:615341"
     CDS             46..1605
                     /gene="CYP4A22"
                     /EC_number="1.14.14.80"
                     /note="isoform 1 is encoded by transcript variant 1;
                     CYPIVA22; cytochrome P450, family 4, subfamily A,
                     polypeptide 22; cytochrome P450 4A22K; fatty acid
                     omega-hydroxylase; lauric acid omega-hydroxylase;
                     long-chain fatty acid omega-monooxygenase"
                     /codon_start=1
                     /product="cytochrome P450 4A22 isoform 1"
                     /protein_id="NP_001010969.2"
                     /db_xref="CCDS:CCDS30707.1"
                     /db_xref="GeneID:284541"
                     /db_xref="HGNC:HGNC:20575"
                     /db_xref="MIM:615341"
                     /translation="MSVSVLSPSRRLGGVSGILQVTSLLILLLLLIKAAQLYLHRQWLL
                     KALQQFPCPPSHWLFGHIQEFQHDQELQRIQERVKTFPSACPYWIWGGKVRVQLYDPDY
                     MKVILGRSDPKSHGSYKFLAPRIGYGLLLLNGQTWFQHRRMLTPAFHNDILKPYVGLMA
                     DSVRVMLDKWEELLGQDSPLEVFQHVSLMTLDTIMKSAFSHQGSIQVDRNSQSYIQAIS
                     DLNSLVFCCMRNAFHENDTIYSLTSAGRWTHRACQLAHQHTDQVIQLRKAQLQKEGELE
                     KIKRKRHLDFLDILLLAKMENGSILSDKDLRAEVDTFMFEGHDTTASGISWILYALATH
                     PKHQERCREEIHGLLGDGASITWNHLDQMPYTTMCIKEALRLYPPVPGIGRELSTPVTF
                     PDGRSLPKGIMVLLSIYGLHHNPKVWPNLEVFDPSRFAPGSAQHSHAFLPFSGGSRNCI
                     GKQFAMNQLKVARALTLLRFELLPDPTRIPIPMARLVLKSKNGIHLRLRRLPNPCEDKD
                     QL"
     regulatory      2516..2521
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP4A22"
                     /note="hexamer: AATAAA"
     polyA_site      2535
                     /gene="CYP4A22"
                     /note="major polyA site"
ORIGIN
        1 tcagagagag gaaggggcac tcagagatcc agcaggtgct gcaccatgag tgtctctgtc
       61 ctgagcccca gcagacgcct gggtggtgtc tccgggatcc tccaagtgac ctccctgctc
      121 attctgcttc tgctgctgat caaggcagct cagctctacc tgcataggca gtggctgctc
      181 aaagccctcc agcagttccc gtgccctccc tcccactggc tcttcgggca catccaggag
      241 ttccaacacg accaggagct acaacggatt caggaacggg tgaagacatt cccaagtgcc
      301 tgtccttatt ggatatgggg aggcaaagtt cgtgtccagc tctatgaccc tgactatatg
      361 aaggtgattc tggggagatc agacccgaaa tcccatggat cctacaaatt cctggctcca
      421 cggattgggt acggcttgct cctgttgaat gggcagacat ggttccagca tcgacggatg
      481 ctgaccccag ccttccacaa tgacatcctg aagccatacg tggggctcat ggcagactct
      541 gtacgagtga tgctggacaa atgggaagag ctccttggcc aggattcccc tctggaggtc
      601 tttcagcacg tctccttgat gaccctggac accatcatga agagtgcctt cagccatcag
      661 ggcagcatcc aggtggacag gaattctcag tcctacatcc aggccattag tgacctgaac
      721 agcctggttt tttgctgtat gaggaatgcc tttcatgaga atgacaccat ctacagcctg
      781 acctctgctg gccgctggac acaccgcgcc tgccagctgg cccatcagca cacagaccaa
      841 gtgatccaac tgaggaaggc tcaactacag aaggaggggg agctggagaa gatcaagagg
      901 aagaggcact tggattttct ggacatcctc ctcttggcca aaatggagaa tgggagcatc
      961 ttgtcagaca aggacctccg tgctgaggtg gacacgttca tgtttgaggg ccacgacacc
     1021 acagccagtg ggatctcctg gatcctctat gctctggcca cacaccccaa gcatcaggag
     1081 aggtgccggg aggagatcca tggcctcctg ggtgatggag cctccatcac ctggaaccac
     1141 ctggaccaga tgccctacac caccatgtgc attaaggagg cactgaggct ctacccaccg
     1201 gtgccaggca ttggaagaga gctcagcact cccgtcacct tccctgatgg gcgctccttg
     1261 cccaaaggta tcatggtcct cctctccatt tatggccttc accacaaccc aaaagtgtgg
     1321 cccaacctag aggtgtttga cccttcccgt tttgcaccgg gttctgctca acacagccac
     1381 gctttcctgc ccttctcagg aggatcaagg aactgcatcg ggaaacaatt tgccatgaac
     1441 cagctgaagg tggccagggc cctgaccctg ctccgctttg agctgctgcc tgatcccacc
     1501 aggatcccca tccccatggc acgacttgtg ttgaaatcca aaaatggaat ccacctgcgt
     1561 ctcaggaggc tccctaaccc ttgtgaagac aaggaccagc tttgagggcc tccacctgcc
     1621 atcctgtctt cctgaccccc actcctatct cctgcctgtc tgcctctgtc ctgctttctg
     1681 tctgcccacc ttcccttctt cccacctgcc tgctgtcccc cagtctgcct gcccttctct
     1741 ctctcacctt tctccaagct ccctacctgc ttgtctacct gtctcctacc cacctgtata
     1801 tcttgttggg agaaaagctg agtgttggga gaagctgagg ccgagcttgc atgtctgaca
     1861 taatgtaaaa gagtcttgaa tcatgtccag gatccagggt ctaaaacccc ttgtggcctt
     1921 tggaacacca agctctgtgc tgaagggtgg aaggctaccc tgacgcacca taatctaagc
     1981 ccggggcata aaacccctcg tggcttggat agaatccagg gctcgtggct ctggaatgtg
     2041 tctggacttg ctggctcctc gctccttgct ctcccaggat caattgtatc ttgagttaaa
     2101 agaacctgct ctccattatc tcaagtaaca gagcagatgc taaaccgtca cagctgtaaa
     2161 tcatgtgctt aatgcaacat gccctttcga cccacccccc attctcacca cctgtttctt
     2221 tgtttgatca ccaataaata atctgcactt ccagagctcg gggccttcac agcctccata
     2281 cttagctttg gcgccctgga cccactttct ctctcaaact gtcttttctc attcctttga
     2341 ctctgccgga ctttgtcacc cccacaacct ggtgttgggt ccgataaccc caacatccct
     2401 gaatctccac ccacctccca aactcctgcc tgccctccag actgtctgcc catacacctg
     2461 tctccttctt cctgcctgct tgtctgttcc tatattagtt tcctattgct gctgtaataa
     2521 actatcacaa tctca
//
LOCUS       NM_001010977            1625 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens methyltransferase 21C, AARS1 lysine (METTL21C), mRNA.
ACCESSION   NM_001010977
VERSION     NM_001010977.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1625)
  AUTHORS   Zoabi M, Zhang L, Li TM, Elias JE, Carlson SM and Gozani O.
  TITLE     Methyltransferase-like 21C (METTL21C) methylates alanine tRNA
            synthetase at Lys-943 in muscle tissue
  JOURNAL   J Biol Chem 295 (33), 11822-11832 (2020)
   PUBMED   32611769
REFERENCE   2  (bases 1 to 1625)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1625)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1625)
  AUTHORS   Zhao F, Gao LH, Li SS, Wei ZY, Fu WZ, He JW, Liu YJ, Hu YQ, Dong J
            and Zhang ZL.
  TITLE     Association between SNPs and haplotypes in the METTL21C gene and
            peak bone mineral density and body composition in Chinese male
            nuclear families
  JOURNAL   J Bone Miner Metab 35 (4), 437-447 (2017)
   PUBMED   27628047
  REMARK    GeneRIF: the polymorphisms and haplotypes of METTL21C contribute to
            the peak bone mineral density and total fat mass in Chinese males.
REFERENCE   5  (bases 1 to 1625)
  AUTHORS   Cloutier P, Lavallee-Adam M, Faubert D, Blanchette M and Coulombe B.
  TITLE     A newly uncovered group of distantly related lysine
            methyltransferases preferentially interact with molecular chaperones
            to regulate their activity
  JOURNAL   PLoS Genet 9 (1), e1003210 (2013)
   PUBMED   23349634
REFERENCE   6  (bases 1 to 1625)
  AUTHORS   Kernstock S, Davydova E, Jakobsson M, Moen A, Pettersen S,
            Maelandsmo GM, Egge-Jacobsen W and Falnes PO.
  TITLE     Lysine methylation of VCP by a member of a novel human protein
            methyltransferase family
  JOURNAL   Nat Commun 3, 1038 (2012)
   PUBMED   22948820
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC132748.1, AL576607.3 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2153307
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000267273.7/ ENSP00000267273.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL158063.12.
            On Jul 31, 2020 this sequence version replaced NM_001010977.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1625
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q33.1"
     gene            1..1625
                     /gene="METTL21C"
                     /gene_synonym="C13orf39"
                     /note="methyltransferase 21C, AARS1 lysine"
                     /db_xref="GeneID:196541"
                     /db_xref="HGNC:HGNC:33717"
                     /db_xref="MIM:615259"
     misc_feature    490..492
                     /gene="METTL21C"
                     /gene_synonym="C13orf39"
                     /note="upstream in-frame stop codon"
     CDS             547..1341
                     /gene="METTL21C"
                     /gene_synonym="C13orf39"
                     /note="methyltransferase-like protein 21C;
                     methyltransferase like 21C"
                     /codon_start=1
                     /product="protein-lysine methyltransferase METTL21C"
                     /protein_id="NP_001010977.1"
                     /db_xref="CCDS:CCDS32003.1"
                     /db_xref="GeneID:196541"
                     /db_xref="HGNC:HGNC:33717"
                     /db_xref="MIM:615259"
                     /translation="MDVCLSSAQQPGRRGEGLSSPGGWLEAEKKGAPQKDSTGGVLEES
                     NKIEPSLHSLQKFVPTDYASYTQEHYRFAGKEIVIQESIESYGAVVWPGAMALCQYLEE
                     HAEELNFQDAKILEIGAGPGLVSIVASILGAQVTATDLPDVLGNLQYNLLKNTLQCTAH
                     LPEVKELVWGEDLDKNFPKSAFYYDYVLASDVVYHHYFLDKLLTTMVYLSQPGTVLLWA
                     NKFRFSTDYEFLDKFKQVFDTTLLAEYPESSVKLFKGILKWD"
     misc_feature    547..684
                     /gene="METTL21C"
                     /gene_synonym="C13orf39"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VZV1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1601..1606
                     /regulatory_class="polyA_signal_sequence"
                     /gene="METTL21C"
                     /gene_synonym="C13orf39"
                     /note="hexamer: AATAAA"
     polyA_site      1625
                     /gene="METTL21C"
                     /gene_synonym="C13orf39"
                     /note="major polyA site"
ORIGIN
        1 aacgtttcga accacatcgc agcaactgga tgccacaggg gcagcctctg ttctgttcca
       61 gtgatattcc tgaaactttt gaagggaatt ccattgaatg ttgctaggac tgtgcgtgtg
      121 tgtgtgtgtg tgtgtgtgtg tgtgagagag agagagagag agagagagag aaagagagag
      181 aattctagca aagtaatgtg tctatgagga ctggtagata atgctaccct aaataacttg
      241 ggcttccact ggctggattt tgttcatcaa atgctaatcc tttcaggtgt agacctatat
      301 aaaacactgg ggattaaaga gtgcacagaa gcctcacatc tcttctgctg cataaggtaa
      361 agatacgtgt aacaattcaa aattattttg ggcatactaa caaggagtca tttccaattc
      421 tgtattaatt acgaacatgc gatgtagatc atagatgtgc tgaactagta acagtcagtc
      481 agtagattat agtcgttctt ttgtagattg cttttcaatg cacagctgtc tttgggacag
      541 ccggctatgg acgtgtgtct gagctccgcg cagcagcctg ggcgccgggg ggaaggactc
      601 agctccccgg gtggctggtt agaggctgag aagaaggggg ctccgcagaa agacagcacc
      661 gggggagtcc tagaagaatc caacaagata gaaccatctc ttcatagcct ccagaaattt
      721 gttcctacag attacgccag ctacactcag gagcattatc ggtttgcagg aaaggagatt
      781 gtcatccagg aatccataga gagttacgga gcggtggtgt ggccaggggc tatggctttg
      841 tgtcaatact tggaggaaca tgccgaggaa ttgaatttcc aagatgcaaa aatacttgaa
      901 attggtgccg gaccaggcct tgtttccatt gtggccagta ttttaggagc tcaagtcaca
      961 gcaacagatt tgcctgatgt cctgggaaac cttcaataca atcttttaaa aaacacacta
     1021 caatgtacag cacatctgcc tgaagtgaaa gaactggtat ggggggaaga cctggacaaa
     1081 aactttccca agtcagcttt ttactatgat tacgtcctag cctcagatgt ggtctaccat
     1141 cactacttcc tggacaagct gctcaccacc atggtgtacc tttcccagcc agggacggtg
     1201 ctgctttggg caaacaaatt caggttcagc accgactatg aatttttaga taaattcaag
     1261 caagtttttg acacaacact gttggctgaa tatccagagt catcagtcaa actttttaag
     1321 gggatactaa aatgggacta aatccaacaa aatgcctttc acaacgttac tgtgtctttt
     1381 gagcaatgtg ttagaaattg ctttggtaat agacttcttt cacaggattg agaaggtagt
     1441 gcatagaaac aacttgtata cttggaacaa atgtaacaat actgcagaaa ctttctaatt
     1501 tctaagataa tttaagatta tctggttaat ctaaatatct aaaaagaaca acataaaaac
     1561 atgaaagtag ctttgttggt tccaacgaag ttacatgttt aataaatctt acatggataa
     1621 agtaa
//
LOCUS       NM_001010978            2376 bp    mRNA    linear   PRI 07-JUL-2023
DEFINITION  Homo sapiens low density lipoprotein receptor class A domain
            containing 1 (LDLRAD1), transcript variant 1, mRNA.
ACCESSION   NM_001010978
VERSION     NM_001010978.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2376)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2376)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2376)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (bases 1 to 2376)
  AUTHORS   Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M,
            Rodriguez M, Tam S, Wanamaker SA, Fan C, Yi S, Tasan M, Lemmens I,
            Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA,
            Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat
            J, Hill DE, Hao T, Vidal M and Iakoucheva LM.
  TITLE     Protein interaction network of alternatively spliced isoforms from
            brain links genetic risk factors for autism
  JOURNAL   Nat Commun 5, 3650 (2014)
   PUBMED   24722188
  REMARK    Erratum:[Nat Commun. 2023 Feb 2;14(1):569. PMID: 36732511]
            Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CF887342.1, ERR279844.5335.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142586,
            SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371360.2/ ENSP00000360411.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CF887342.1, BC127708.1, BC103740.1 and BM977091.1.
            On Nov 24, 2018 this sequence version replaced NM_001010978.3.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2376
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     gene            1..2376
                     /gene="LDLRAD1"
                     /note="low density lipoprotein receptor class A domain
                     containing 1"
                     /db_xref="GeneID:388633"
                     /db_xref="HGNC:HGNC:32069"
     misc_feature    6..8
                     /gene="LDLRAD1"
                     /note="upstream in-frame stop codon"
     CDS             75..692
                     /gene="LDLRAD1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     low-density lipoprotein receptor class A domain-containing
                     protein 1"
                     /codon_start=1
                     /product="low-density lipoprotein receptor class A
                     domain-containing protein 1 isoform 1"
                     /protein_id="NP_001010978.2"
                     /db_xref="CCDS:CCDS30725.1"
                     /db_xref="GeneID:388633"
                     /db_xref="HGNC:HGNC:32069"
                     /translation="MNKVFPQGENGYTAAESKAHPGGEAGGGHLCCSRRGACLSASLLL
                     LLATVAALIALVTILGLPSCTPGAQACITLTNRTGFLCHDQRSCIPASGVCDGVRTCTH
                     GEDEDESLCRDVPQSLPHFLVAHCGDPASWIYSDQKCDGTNNCGDCSDELSPVTVCPPC
                     GPGWWRCPSTFFKYCDCIPRHLCRDHVQHCSDWSDEYACPGP"
     misc_feature    201..263
                     /gene="LDLRAD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T700.1);
                     transmembrane region"
     regulatory      2229..2234
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LDLRAD1"
                     /note="hexamer: AATAAA"
     polyA_site      2245
                     /gene="LDLRAD1"
     regulatory      2354..2359
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LDLRAD1"
                     /note="hexamer: AATAAA"
     polyA_site      2376
                     /gene="LDLRAD1"
                     /note="major polyA site"
ORIGIN
        1 cttggtgaca atgcagggaa cccgtgctga gctctctgca cacagcccca gtcgggcagc
       61 aggaaaccga agacatgaac aaggtcttcc cccagggaga gaatggctac actgctgctg
      121 aatccaaagc ccaccctgga ggggaagcag gcggcggcca cctctgctgc tcacgtcgcg
      181 gggcctgcct ctctgcctct ctgctgctcc tcctggcaac tgtggcggcc ctcatcgcct
      241 tggtcaccat tcttggactc ccatcatgca ccccaggagc ccaagcttgt ataacactga
      301 caaacaggac aggcttcttg tgccatgacc agaggagctg cattccagcc agtggggtct
      361 gtgatggcgt tcgcacctgt acccacggcg aggacgagga tgagagcttg tgccgagatg
      421 tgccccagag cctcccccac ttccttgtgg cccactgtgg agacccggcc tcctggatct
      481 actcagacca aaaatgtgat ggcactaaca actgcgggga ctgttcagat gaactgagcc
      541 cagtaactgt gtgcccaccc tgcggccctg ggtggtggcg ctgtccttca accttcttca
      601 agtactgcga ctgtataccg aggcatctct gccgcgacca tgtacagcac tgctccgact
      661 ggtccgatga gtatgcctgt cccggaccct gagtgggcca ctcaggccag catggaaggc
      721 tggctggaat ggcactgata acccttcaca tgaaaatcaa atcctagcgc acaagggcag
      781 gaagcagcct ttgaaatggg atctacacat catttctgaa taggaatttt ctctcctcct
      841 ttcaagttgt tcagcctctg cttgaatgct tccaatgacc aggagctcat taccatgtta
      901 ggtggcttct aacaaagatg atgtggtgga accccgtctc taccaaaaat acaaaaatta
      961 gccaggcatg gcggtgcaca cctatagtcc cagctactag ggaggctgag gtgggaggac
     1021 tgtgtgaacc caggaggtca aggctgcagt gagctgtgac cacaccactg cactccagcc
     1081 tgagcaacac agtgagaccc tgtctcaaaa aaaaaatgaa acaaaacaca aacacaaaca
     1141 aagacgaagg gaatctgctt ccatgatttc atgcctgtct ctggggccac acagaggaaa
     1201 tctgctaact gctccaaggc atacttgtgg atcctaatct cgtcatccct tagagtgatg
     1261 acatgtctgg ggcttaaatg acaagccgag tttagccttc atggatggca catacgtgaa
     1321 acatatgcca cttcctaccc ctttggtacc taaggcagat atactgggct tggatgcaac
     1381 tttagcatct tccccagttt agttaaccca gcaggctcta ctgatttaac caagtgacac
     1441 agcacatgaa acaggatatc tggcatccta ccagtgggaa gccaccccag gaagctctga
     1501 gctgtagaat agaagatctg gagaaagagc agcttgaagg gctcctcacc agtcttctgt
     1561 ctgtccaacc tgctctccac cccagcactc cccaccctcc actctatgcc cagctgcccg
     1621 cctaaacagc ccagttttct ggaagtaggg actatatttt gatcctggag cctgaatgag
     1681 ctgcttctgt gcttatcttt ccagcttcac accacccagg caggcaagga tgaatatttc
     1741 cattagatgg atgagaaaac tgaggcccag agagggcgat gacttgtcca gaatcataga
     1801 gcaaagtcag cgctggaact ggaacccaaa tacagcctat ggcaccccag cccagaaggc
     1861 tttccagcta ccagtgtgat tataccttgg ccagggcagt ctctgcgggg tattttaaaa
     1921 gtgagcttgt caggtgcact ggctcatgcc tatgatccca gcactttggg acactgaggt
     1981 ggaagtgtcc cacttgagcc caggagttcg agaccagcct gggcaacata gggagaacct
     2041 gtctctacaa aaaataggaa aaaagtagct gggtggggtg gtgcatgctt gtagtcccag
     2101 ccactcagaa agctaagatg ggaggatcgt ttgagcctgg gagattgagg ctgcaatgag
     2161 gcatgatcat gccactgcac tccagcctgg gcaacaaacc ctgtctcaaa aaatttcttt
     2221 ttaataaaaa taaaataaaa catgagattg agggtcagca agtgtgacac ccatattctg
     2281 aaagagagac ttgggatctg cctgatggga gggctcctgt cgagggagac agacatatcc
     2341 ccactgaaaa attaataaaa ttggttttac atatca
//
LOCUS       NM_001010979             674 bp    mRNA    linear   PRI 16-JUN-2023
DEFINITION  Homo sapiens cilia and flagella associated protein 141 (CFAP141),
            mRNA.
ACCESSION   NM_001010979
VERSION     NM_001010979.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 674)
  AUTHORS   Gui M, Croft JT, Zabeo D, Acharya V, Kollman JM, Burgoyne T, Hoog JL
            and Brown A.
  TITLE     SPACA9 is a lumenal protein of human ciliary singlet and doublet
            microtubules
  JOURNAL   Proc Natl Acad Sci U S A 119 (41), e2207605119 (2022)
   PUBMED   36191189
REFERENCE   2  (bases 1 to 674)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HY025946.1, BC127710.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368525.4/ ENSP00000357511.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY025946.1 and AI052706.1.
            On Nov 22, 2018 this sequence version replaced NM_001010979.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..674
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..674
                     /gene="CFAP141"
                     /gene_synonym="C1orf189"
                     /note="cilia and flagella associated protein 141"
                     /db_xref="GeneID:388701"
                     /db_xref="HGNC:HGNC:32305"
     CDS             27..332
                     /gene="CFAP141"
                     /gene_synonym="C1orf189"
                     /note="uncharacterized protein C1orf189; protein CFAP141"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 141"
                     /protein_id="NP_001010979.1"
                     /db_xref="CCDS:CCDS30876.1"
                     /db_xref="GeneID:388701"
                     /db_xref="HGNC:HGNC:32305"
                     /translation="MSVEKMTKVEESFQKAMGLKKTVDRWRNSHTHCLWQMALGQRRNP
                     YATLRMQDTMVQELALAKKQLLMVRQAALHQLFEKEHQQYQQELNQMGKAFYVERF"
     regulatory      648..653
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP141"
                     /gene_synonym="C1orf189"
                     /note="hexamer: AATAAA"
     polyA_site      674
                     /gene="CFAP141"
                     /gene_synonym="C1orf189"
                     /note="major polyA site"
ORIGIN
        1 agactgtatc aagcaaatct atagacatgt ctgtggaaaa gatgacaaaa gtagaagaga
       61 gttttcaaaa ggccatggga cttaagaaga cggtcgacag gtggcgaaat tcacatactc
      121 actgtctgtg gcaaatggca ttgggccaga gaagaaaccc gtatgccacc ctaaggatgc
      181 aggacaccat ggtacaggaa ttggcactgg ccaaaaagca actactaatg gtccgtcaag
      241 ctgccctgca ccagctgttt gaaaaggagc atcagcagta ccagcaggaa ctaaatcaga
      301 tgggcaaagc tttttatgta gagagattct gatggcatcc aaaacactgc tcttccattc
      361 tcaacatgcc tgctaaccta gccttctaga acctctacca ccttgaacct ccttcccaaa
      421 acatacctgg atcttgctat ctgtcaggga cttaagacag cacttccact ctcacttctc
      481 cactctctcg ttaatccttt gccgctattt gggaaacaat ctatgaaaca acagtaacaa
      541 caagagtgac gccttgtggt catagtggga tttactatgt tgatgtaagg gggcaggggt
      601 ggggaggggt ggacaatgag agttgagaat cctgatttgg tataacaaat aaatttactt
      661 cctaaaggct caaa
//
LOCUS       NM_001010980            3980 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens non-compact myelin associated protein (NCMAP), mRNA.
ACCESSION   NM_001010980
VERSION     NM_001010980.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3980)
  AUTHORS   Ryu EJ, Yang M, Gustin JA, Chang LW, Freimuth RR, Nagarajan R and
            Milbrandt J.
  TITLE     Analysis of peripheral nerve expression profiles identifies a novel
            myelin glycoprotein, MP11
  JOURNAL   J Neurosci 28 (30), 7563-7573 (2008)
   PUBMED   18650334
  REMARK    GeneRIF: This study identified an evolutionarily conserved novel
            component of myelin called Mp11. The Mp11 genomic locus contains
            multiple conserved Egr binding sites, and Mp11 induction is
            regulated by the expression of Egr2 and expression in peripheral
            nerve.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK124519.1, DA093459.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374392.3/ ENSP00000363513.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB961010.1, BC147014.1 and AL445686.14.
            On Nov 23, 2018 this sequence version replaced NM_001010980.4.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3980
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..3980
                     /gene="NCMAP"
                     /gene_synonym="C1orf130; MP11"
                     /note="non-compact myelin associated protein"
                     /db_xref="GeneID:400746"
                     /db_xref="HGNC:HGNC:29332"
     CDS             91..399
                     /gene="NCMAP"
                     /gene_synonym="C1orf130; MP11"
                     /note="myelin protein of 11 kDa"
                     /codon_start=1
                     /product="noncompact myelin-associated protein"
                     /protein_id="NP_001010980.1"
                     /db_xref="CCDS:CCDS30632.1"
                     /db_xref="GeneID:400746"
                     /db_xref="HGNC:HGNC:29332"
                     /translation="MTTATPLGDTTFFSLNMTTRGEDFLYKSSGAIVAAVVVVVIIIFT
                     VVLILLKMYNRKMRTRRELEPKGPKPTAPSAVGPNSNGSQHPATVTFSPVDVQVETR"
     misc_feature    181..243
                     /gene="NCMAP"
                     /gene_synonym="C1orf130; MP11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1S8.1);
                     transmembrane region"
     misc_feature    268..396
                     /gene="NCMAP"
                     /gene_synonym="C1orf130; MP11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1S8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3960..3965
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NCMAP"
                     /gene_synonym="C1orf130; MP11"
                     /note="hexamer: AATAAA"
     polyA_site      3980
                     /gene="NCMAP"
                     /gene_synonym="C1orf130; MP11"
                     /note="major polyA site"
ORIGIN
        1 gtggcagcgc cgggcggcgg cggggaccct ggctgggagc gcggcggtgc cggcgggagg
       61 ccgagcgggg ctcgacagag caggatcgag atgaccacag ccacccctct gggggatacc
      121 accttcttct cactgaacat gaccaccagg ggagaagact tcctgtataa gagttctgga
      181 gccattgttg ctgccgttgt ggtggttgtc atcatcatct tcaccgtggt tctgatcctg
      241 ctgaagatgt acaacaggaa aatgaggacg aggcgggaac tagagcccaa gggccccaag
      301 ccaaccgccc cttctgccgt gggcccaaac agcaacggca gccaacaccc agcaactgtg
      361 accttcagtc ctgttgacgt ccaggtggag acgcgatgac ctctaccctg gcgctatctc
      421 caccactgtc caaagagcct ctccagagtc aagacccaga ggcacactct ctggcagctt
      481 cacaatgagc ttcttctggt caggtcgaca gagacatctt tgacgcaatc tctgatgctt
      541 ccagcaatcc tcaaccttgt ctgccctgcc ctaccccaac tgtgtccaca tccctgccgc
      601 caccccacca aaaagctgca gaacattctt ttgtcatctg atgaggtaga gctatgttgg
      661 gaatccacca atgtgggctt ggctttcccc cacactgtag ttagacagat agacagatag
      721 cccaggagcc aggtgtcagg gagcactgct gagagtatca caataggatc tgtcacgggg
      781 ttcatatcag atgaagcgcc gtatccactg cttcacagag caaaacattc aatcccataa
      841 ccaggcacag gggaactaac ttggactaac taaccagaaa accttgttaa cgtataactt
      901 gttccagtac tacatctctg cctgctggct catgacaatt gctcagcaca ttttcccctc
      961 ttgaagaaag gttgcaagaa gaactaaatt atcctcaaaa gatttctgct tcattagtaa
     1021 agagtcagtg atggaatagg gtgactctgc agaatagtgg cctctagggt aggagcttgt
     1081 tgtgttgtcc gtgggcctgg aatgatcctg gtggctgatc agggtccttc tcccactctg
     1141 ggctgtatca accctgacgg tcttggtctt tggctcccct ttatctggat tctgagcacg
     1201 ctgactgtcc tgttaatgcc ttccctccaa ggaccagtat ttggagatta attagattac
     1261 aactctatct atgttacctt tgtccttcct ggtcaccttg cagattcaag acatgttcaa
     1321 agcaacacat tcacaaccca tttctattct atagcaacct cgtctgtgac tccttagcct
     1381 ggagaacaat ctaccaagaa gagaaagtat ctggaattaa gaagtcctac catccaagcc
     1441 ctacttcctg gttgtgtggc cttggaaaag tgactcaacc tctttatatt cagtttccta
     1501 accatgaagt ggaaatgata acacctgcct cattggggca ctataacaag tgaaggactt
     1561 aggaaaacat ctggagtata gcgcctggca cccaggagat gcttaataaa tgggaaccag
     1621 gattcttttt cttttctttt ttcttttctt tttttttttt ttttgagaca gagcctcaat
     1681 ctgtcacctg ggctggagtg cagtggcacg ctcacagctc gctgcagcct tgaactcctg
     1741 ggctcaaggg atgctccctc ctcagcctcc agagtagctg ggactacagg tatgtgtcac
     1801 ctcaccaggc taattttttt attttttatt tttgtagaga tggggtctcg ctgtgttgcc
     1861 caggctggtc ttgaacccct ggcctcaagt gatccttctg ctttggcctc ccaaagtgct
     1921 gggattacag gcatggacta tggtgcccag cctaggagcc aacattatta ttattatagg
     1981 cttttttttc aattgcaaga tagacatttc ttcacatttt aatgattctg aaatcagaac
     2041 atatcttgca attgatgggt tcattaatat aattgtagtt ctttacttcc tctcaaaaac
     2101 ttgtgatctt ataattgatg gcatcttgga aacaaggtaa taaatctcta ttctgttaaa
     2161 gaaagtgaca cactttgaca tttaacctca aattttagga gtctctccct cttggggtca
     2221 gaaatccctt ctgaggccag gtgtcgtggc tcatgcctgt aatcccagca ctttgggagg
     2281 ctgaggcagg cgggtcactt gaggtcagga gtttgagacc agcctggcca acatggcaaa
     2341 accctgtctc tactaataat acaaaattta gctgggcatg gtggcatgca cctgtaatcc
     2401 cactactagg gaggctgtgg catgagaatc acttgaacct ggaaggcaga ggttgcagtg
     2461 agccaagatc gtgccactgc actccagcct gggcaacaga gtgaaactgc atctcaaaaa
     2521 aagaaaaatc cattatgagg ggaaatcaag agtcagggag gtaagaggtc ttacccaggg
     2581 tcacacagct catgatatcc cactgtaaaa atactctgtg gaatagctct ggagaaatac
     2641 tggcacattc ttcctctctg gtcattattt cttcctactg tgtttaaata tccaccaagt
     2701 gtcaaggact ttgtaagatg ctttcacata aattatctca taggattaaa ttttcccaaa
     2761 aacctgggga ggaattattt tttccaaaac agatgataat ttctgattca aagagaaaga
     2821 aaacaaagta cttttccaaa gtcacacagc tagtaagtca caaagacaag actcaaaacc
     2881 aggtctcttg actccaaagt ctgtcttttt tgtgaagtca cactcctctg ctggcccagc
     2941 tcaaagcagc acagattctt tatgggctga acaaggggag tacgggtttg tccatgtgtt
     3001 tgagtagaga tcagggttct ggcttccagg ctgaaggtga gggaaaagcc acttctaact
     3061 cctttgggca tccatgctca cggccaaaag agccccttct caacacatcc aagtgctaag
     3121 gattcctgct tcattcaagc tactacttag gcccaaggag caaggggtag aatggcatct
     3181 aaccagagca aagccatttc tttgagggct caagccataa acaaatatgc tcccctaaac
     3241 atattcggct tgaaaaagtt gttttggggc agctgtggtg gtgcacccct gtaatcccag
     3301 ccctttggga gtcagaggca gtcagtcact tgagcccagg agttcaagac tagcctgggc
     3361 aacacggcga aacctcgtct ctacaaaaaa tacaaaaatt aaccaagcgt ggtagtgcac
     3421 gcctgtattc ccagctactt gggaggctga ggtaggagga tggcttgagc ctgggaggca
     3481 gaggttgcag tgagctgaga tcgcgccact gcactccagc cggggtgaca gagccagacc
     3541 ctgtctcaaa gcatatttca accctaaaac tagactcttc tgcccacagt gcagtcttct
     3601 aagggttacc ctctggtata tgttcttttg ctaaatgaag gcttggagtt ggagggaaga
     3661 aggggagatg gagtggtgag ggcgagtcaa ataaaaggat ttgagtgtct cgtttttgac
     3721 taatgaagat gattcaataa acatcctgta agaagggttc ctatgtgcaa gttgaggtgc
     3781 tactaagtac attaagacac aattgctgct ctcaaggagt tagcagctgg tctcatgcag
     3841 ggatctcacc acgtggttat gtattttgtt tctgatgagg tgcctttctt agcagatgct
     3901 gccttatttg gccactgaaa caatcaaagc taataaatgc ttaaagaaaa atatctgaca
     3961 ataaaaaggt ttaaatcaaa
//
LOCUS       NM_001010982            1686 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens arylformamidase (AFMID), transcript variant 2, mRNA.
ACCESSION   NM_001010982
VERSION     NM_001010982.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1686)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1686)
  AUTHORS   Lin KT, Ma WK, Scharner J, Liu YR and Krainer AR.
  TITLE     A human-specific switch of alternatively spliced AFMID isoforms
            contributes to TP53 mutations and tumor recurrence in hepatocellular
            carcinoma
  JOURNAL   Genome Res 28 (3), 275-284 (2018)
   PUBMED   29449409
  REMARK    GeneRIF: A human-specific switch of alternatively spliced AFMID
            isoforms contributes to TP53 mutations and tumor recurrence in
            hepatocellular carcinoma Publication Status: Available-Online prior
            to print
REFERENCE   3  (bases 1 to 1686)
  AUTHORS   Casabonne D, Reina O, Benavente Y, Becker N, Maynadie M, Foretova L,
            Cocco P, Gonzalez-Neira A, Nieters A, Boffetta P, Middeldorp JM and
            de Sanjose S.
  TITLE     Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9)
            and tumor protein 73 (TP73) interact with Epstein-Barr virus in
            chronic lymphocytic leukemia: results from the European case-control
            study EpiLymph
  JOURNAL   Haematologica 96 (2), 323-327 (2011)
   PUBMED   21048031
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   4  (bases 1 to 1686)
  AUTHORS   Magni G, Amici A, Emanuelli M, Orsomando G, Raffaelli N and Ruggieri
            S.
  TITLE     Enzymology of NAD+ homeostasis in man
  JOURNAL   Cell Mol Life Sci 61 (1), 19-34 (2004)
   PUBMED   14704851
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.4310167.1, BC132824.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000409257.10/ ENSP00000386890.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC087645.19.
            On Jan 29, 2021 this sequence version replaced NM_001010982.4.
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3' coding region compared to variant 1. The resulting
            protein (isoform 2) is shorter but has the same N- and C-termini
            compared to isoform 1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1686
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..1686
                     /gene="AFMID"
                     /gene_synonym="FKF; KF; KFA"
                     /note="arylformamidase"
                     /db_xref="GeneID:125061"
                     /db_xref="HGNC:HGNC:20910"
     CDS             10..921
                     /gene="AFMID"
                     /gene_synonym="FKF; KF; KFA"
                     /EC_number="3.5.1.9"
                     /note="isoform 2 is encoded by transcript variant 2;
                     probable arylformamidase; kynurenine formamidase; KFase;
                     N-formylkynurenine formamidase"
                     /codon_start=1
                     /product="kynurenine formamidase isoform 2"
                     /protein_id="NP_001010982.2"
                     /db_xref="CCDS:CCDS32750.2"
                     /db_xref="GeneID:125061"
                     /db_xref="HGNC:HGNC:20910"
                     /translation="MMDVSGVGFPSKVPWKKMSAEELENQYCPSRWVVRLGAEEALRTY
                     SQIGIEATTRARATRKSLLHVPYGDGEGEKVDIYFPDESSEALPFFLFFHGGYWQSGSK
                     DESAFMVHPLTAQGVAVVIVAYGIAPKGTLDHMVDQVTRSVAFVQKRYPSNKGIYLCGH
                     SAGAHLAAMMLLADWTKHGVTPNLRGFFLVSGVFDLEPIVYTSQNVALQLTLEDAQRNS
                     PQLKVAQAQPVDPTCRVLVVVGQFDSPEFHRQSWEFYQTLCQGEWKASFEELHDVDHFE
                     IVENLTQKDNVLTQIILKTIFQ"
     misc_feature    292..306
                     /gene="AFMID"
                     /gene_synonym="FKF; KF; KFA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63HM1.2);
                     Region: HGGXW"
     regulatory      1664..1669
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AFMID"
                     /gene_synonym="FKF; KF; KFA"
                     /note="hexamer: AATAAA"
     polyA_site      1686
                     /gene="AFMID"
                     /gene_synonym="FKF; KF; KFA"
                     /note="major polyA site"
ORIGIN
        1 gtagacgcca tgatggatgt gtctggtgtg ggtttcccaa gcaaggttcc ttggaagaag
       61 atgtctgcag aggagctgga gaatcagtac tgtcccagcc gatgggttgt ccgactggga
      121 gcagaggaag ccttgaggac ctactcacag ataggaattg aagccaccac aagggcccgg
      181 gccaccagga agagcctgct gcatgtcccc tatggagacg gcgaagggga gaaagtggac
      241 atttacttcc ccgacgagtc gtctgaagcc ttgcctttct tcctgttctt tcacggagga
      301 tactggcaga gcggaagtaa ggatgagtct gccttcatgg tccacccgct gacggcacag
      361 ggagtggccg tggtaatagt ggcttacggc atcgccccca aaggcaccct ggaccacatg
      421 gtagaccagg tgacccgcag cgttgcgttt gtccagaagc ggtatccaag caacaaggga
      481 atttacctgt gtggacactc agccggggcc cacctggctg ccatgatgct cctggccgac
      541 tggaccaagc atggggtcac gcccaacctc agaggctttt tcctggtgag tggggtcttt
      601 gacctggagc ccatcgtgta tacttcacag aacgttgctc tccagctgac cctggaggac
      661 gctcagagga atagccccca gctgaaggtg gcccaggcac agccggtgga ccccacctgc
      721 cgtgtgctgg tggtcgtggg ccagttcgac tcccccgaat tccaccgaca gtcctgggag
      781 ttttaccaga ccctgtgtca aggagagtgg aaagcctcat ttgaagagct ccacgatgtg
      841 gaccactttg aaattgttga gaatctgacc cagaaggaca acgtgctcac ccagattatc
      901 ttgaaaacaa tcttccagta gttctgacga tacttggagc ctggtccacg tgcatcccac
      961 cttgggaagc ctctccaaag agctttcgga gctgacactg acagcttcag tttcccccag
     1021 cacccaggag agccttgctg tgtctgtctg cccggcaaga gtccattctc actgctggga
     1081 cactcatgaa aatctccacg tcctccctct tcccagcctg gatggagctc cagggctggg
     1141 gaacgtccgc aagtcaatgc tcagagatgc ccggagctgc ctcttagact cgtctggccc
     1201 atctacctgc tgacagagca tgacaaagat gacgctcaaa agtaatgcca ttacttcttt
     1261 tttttttttt tttttttttt tttttgagat ggagtcttac tctgtcaccc aggctggagt
     1321 gcagtggcgt gatcttggct cactgcaacc tccacctccc gggttcaagc aattctcctg
     1381 cctcagcctc ctgagcagct gggactacag gcgcctgcca tcatgcctgg ctaatttttg
     1441 tatttttagt agagacgggg tttcaacata ttggccaggc tggtctcaaa ctcctaacct
     1501 tgtgattcgc ccgccttggc ctcccaaagt gctgggattc caggcgtgag ccactgcgcc
     1561 cggccagaat ggcattatat ttaaatagtt cataaagaag cacaaaagaa tattatttca
     1621 taacatgtaa aaattatata aaacgtaaat ttccatgttg ataaataaag ttgtattgga
     1681 acacgg
//
LOCUS       NM_001010985            1342 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens myosin binding protein H like (MYBPHL), transcript
            variant 1, mRNA.
ACCESSION   NM_001010985
VERSION     NM_001010985.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1342)
  AUTHORS   Wong KY, Morgan GJ, Boyle EM, Cheng ASL, Yip KY and Chim CS.
  TITLE     A proof-of-concept study for the pathogenetic role of enhancer
            hypomethylation of MYBPHL in multiple myeloma
  JOURNAL   Sci Rep 11 (1), 7009 (2021)
   PUBMED   33772052
  REMARK    GeneRIF: A proof-of-concept study for the pathogenetic role of
            enhancer hypomethylation of MYBPHL in multiple myeloma. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1342)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1342)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1342)
  AUTHORS   Lahm H, Dressen M, Beck N, Doppler S, Deutsch MA, Matsushima S, Neb
            I, Konig KC, Sideris K, Voss S, Eschenbach L, Puluca N, Deisenhofer
            I, Doll S, Holdenrieder S, Mann M, Lange R and Krane M.
  TITLE     Myosin binding protein H-like (MYBPHL): a promising biomarker to
            predict atrial damage
  JOURNAL   Sci Rep 9 (1), 9986 (2019)
   PUBMED   31292467
  REMARK    GeneRIF: Myosin binding protein H-like (MYBPHL): a promising
            biomarker to predict atrial damage. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1342)
  AUTHORS   Barefield DY, Puckelwartz MJ, Kim EY, Wilsbacher LD, Vo AH, Waters
            EA, Earley JU, Hadhazy M, Dellefave-Castillo L, Pesce LL and McNally
            EM.
  TITLE     Experimental Modeling Supports a Role for MyBP-HL as a Novel
            Myofilament Component in Arrhythmia and Dilated Cardiomyopathy
  JOURNAL   Circulation 136 (16), 1477-1491 (2017)
   PUBMED   28778945
  REMARK    GeneRIF: MYBPHL truncations may increase risk for human arrhythmias
            and cardiomyopathy.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK129834.1, BC132900.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2155550
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000357155.2/ ENSP00000349678.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK129834.1, BC132900.1 and
            AL390252.9.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001010985.2.
            Summary: This gene encodes a protein with two immunoglobulin
            superfamily domains and a fibronectin 3 domain. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, May 2012].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer protein (isoform 1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1342
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..1342
                     /gene="MYBPHL"
                     /note="myosin binding protein H like"
                     /db_xref="GeneID:343263"
                     /db_xref="HGNC:HGNC:30434"
                     /db_xref="MIM:619807"
     CDS             21..1085
                     /gene="MYBPHL"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="myosin-binding protein H-like isoform 1"
                     /protein_id="NP_001010985.2"
                     /db_xref="CCDS:CCDS30793.1"
                     /db_xref="GeneID:343263"
                     /db_xref="HGNC:HGNC:30434"
                     /db_xref="MIM:619807"
                     /translation="MEAATAPEVAAGSKLKVKEASPADAEPPQASPGQGAGSPTPQLLP
                     PIEEHPKIWLPRALRQTYIRKVGDTVNLLIPFQGKPKPQAIWTHDGCALDTRRVSVRNG
                     EQDSILFIREAQRADSGRYQLRVQLGGLEATATIDILVIERPGPPQSIKLVDVWGFSAT
                     LEWTPPQDTGNTALLGYTVQKADTKSGLWFTVLEHYHRTSCIVSDLIIGNSYAFRVFAE
                     NQCGLSETAPITTDLAHIQKAATVYKTKGFAQRDFSEAPKFTQPLADCTTVTGYNTQLF
                     CCVRASPRPKIIWLKNKMDIQGNPKYRALTHLGICSLEIRKPGPFDGGIYTCKAVNPLG
                     EASVDCRVDVKVPN"
     misc_feature    21..161
                     /gene="MYBPHL"
                     /note="propagated from UniProtKB/Swiss-Prot (A2RUH7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    132..134
                     /gene="MYBPHL"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5PQM4; propagated from
                     UniProtKB/Swiss-Prot (A2RUH7.2); phosphorylation site"
     misc_feature    981..983
                     /gene="MYBPHL"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q5FW53; propagated from
                     UniProtKB/Swiss-Prot (A2RUH7.2); methylation site"
     regulatory      1320..1325
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYBPHL"
                     /note="hexamer: AATAAA"
     polyA_site      1342
                     /gene="MYBPHL"
                     /note="major polyA site"
ORIGIN
        1 agcctctggg aaggcccagc atggaggcag ccacagctcc ggaggtggcc gcaggatcca
       61 agctgaaggt gaaagaagcc agcccagcgg atgctgaacc accccaggct tcacctggac
      121 agggggctgg cagccccact ccccagctcc tgccccctat agaagagcac cccaagatct
      181 ggctacctcg ggccctgagg cagacctaca tccggaaggt tggggacaca gtgaacctac
      241 taatcccatt ccagggcaag cccaaacctc aagccatctg gacacatgat ggctgtgcct
      301 tggacaccag gcgtgtgagt gtgcggaatg gggagcaaga ctccatcctc ttcatccgag
      361 aagcccaacg tgctgactca ggtcgctacc aactccgcgt gcagctgggt gggctggagg
      421 ccaccgccac cattgacatc ctggtgattg agaggccagg ccctcctcag agtattaagc
      481 tggtggacgt ttggggcttc agcgctacac tggaatggac accgccccaa gatacgggga
      541 atacagcact tctgggatac acggtgcaga aggctgacac aaaatccggg ctgtggttca
      601 cggtgctgga gcactatcac cgcaccagct gcatcgtctc tgacctcatc atcggcaact
      661 cctatgcctt ccgtgtcttt gctgaaaacc agtgcggact cagtgaaaca gcccccatca
      721 ctacggacct cgcccacatc cagaaagcag ctactgttta caagaccaag gggtttgccc
      781 aacgagactt ctctgaagcc ccaaagttta cccagcctct ggccgactgc actacagtca
      841 ccggctataa tacccagctc ttctgctgtg tccgcgcctc tccccggccc aagatcatct
      901 ggctgaagaa caagatggat atccaaggca accctaagta cagagccctg actcacctgg
      961 gaatctgctc cctagagatc cgcaagccgg gtccctttga tggaggcatc tatacctgca
     1021 aggcggtgaa ccccctaggg gaggcatctg tggactgtcg ggtggatgtg aaagttccta
     1081 attgaggaca cctaagaagg catggtactc tgacaaagcc agtgcccagc aatgaagtga
     1141 attcatggca caggagccag ggaccgtgac aacggtgccc tcagcagcct ggtgtcctct
     1201 ggccatttgc tgtcatggct acaaagtgct ccctcttttc agtgcctcca ggaagcccgc
     1261 cagtggtgag actgtgtcct caaggagctt cggcaccatg tctggtttgg attcatctaa
     1321 ataaatatgt ggttccccag tg
//
LOCUS       NM_001010987            1972 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens interferon induced protein with tetratricopeptide
            repeats 1B (IFIT1B), mRNA.
ACCESSION   NM_001010987
VERSION     NM_001010987.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1972)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1972)
  AUTHORS   Diamond MS and Farzan M.
  TITLE     The broad-spectrum antiviral functions of IFIT and IFITM proteins
  JOURNAL   Nat Rev Immunol 13 (1), 46-57 (2013)
   PUBMED   23237964
  REMARK    Review article
REFERENCE   3  (bases 1 to 1972)
  AUTHORS   Pichlmair A, Lassnig C, Eberle CA, Gorna MW, Baumann CL, Burkard TR,
            Burckstummer T, Stefanovic A, Krieger S, Bennett KL, Rulicke T,
            Weber F, Colinge J, Muller M and Superti-Furga G.
  TITLE     IFIT1 is an antiviral protein that recognizes 5'-triphosphate RNA
  JOURNAL   Nat Immunol 12 (7), 624-630 (2011)
   PUBMED   21642987
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1972)
  AUTHORS   Wathelet MG, Szpirer J, Nols CB, Clauss IM, De Wit L, Islam MQ,
            Levan G, Horisberger MA, Content J, Szpirer C et al.
  TITLE     Cloning and chromosomal location of human genes inducible by type I
            interferon
  JOURNAL   Somat Cell Mol Genet 14 (5), 415-426 (1988)
   PUBMED   3175763
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX647300.1, BC137368.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2149004,
            SAMEA2149398 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371809.3/ ENSP00000360874.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL353751.13.
            On May 7, 2010 this sequence version replaced NM_001010987.1.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1972
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.31"
     gene            1..1972
                     /gene="IFIT1B"
                     /gene_synonym="bA149I23.6; IFIT1L"
                     /note="interferon induced protein with tetratricopeptide
                     repeats 1B"
                     /db_xref="GeneID:439996"
                     /db_xref="HGNC:HGNC:23442"
     misc_feature    39..41
                     /gene="IFIT1B"
                     /gene_synonym="bA149I23.6; IFIT1L"
                     /note="upstream in-frame stop codon"
     CDS             81..1505
                     /gene="IFIT1B"
                     /gene_synonym="bA149I23.6; IFIT1L"
                     /note="interferon-induced protein with tetratricopeptide
                     repeats 1-like protein"
                     /codon_start=1
                     /product="interferon-induced protein with tetratricopeptide
                     repeats 1B"
                     /protein_id="NP_001010987.1"
                     /db_xref="CCDS:CCDS31242.1"
                     /db_xref="GeneID:439996"
                     /db_xref="HGNC:HGNC:23442"
                     /translation="MSEESDGKLIEDSLIQLRCHFTWKLLIEAPEIPDLENRIWEEIQF
                     LDTKYNVGIHNLLAYVKHLKGQNEEALVSLKKAEDLIQKEHANQADIRSLVTWGNFAWV
                     YYHMGRLAEAQTYLDKVENTCKKFANPSRYRMECPEVDCEEGWALAKCGGKNYERAKTC
                     FEKALEGNPENPEFNTGYAITVYRLDKFNTASGRNKAFSLHVLKRAVRLNPDDVYIRVL
                     LALKLQDEGQEAEGEKYIEEALTSISSQAYVFQYAAKFYRRKGSVDKALELLKMALETT
                     PTSAFLHHQMGLCYRAQMIQIKEATNWQPRGQDRETVDRLVQLAICKFEKTIMLKRTFE
                     MAYVDLAETYAEIGHHRKAEEHFQKGLRMKIFEDQLKQEIHYHYGRFQEHHGKSQDKAI
                     THYLKGLKIEKMSHSREKLLNALEKLAKRCIHQNVRVVESVSLLGLIHKLKGEVSDALL
                     CYERALRLAADLNPIF"
     misc_feature    234..335
                     /gene="IFIT1B"
                     /gene_synonym="bA149I23.6; IFIT1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T764.1);
                     Region: TPR 1"
     misc_feature    363..464
                     /gene="IFIT1B"
                     /gene_synonym="bA149I23.6; IFIT1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T764.1);
                     Region: TPR 2"
     misc_feature    495..602
                     /gene="IFIT1B"
                     /gene_synonym="bA149I23.6; IFIT1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T764.1);
                     Region: TPR 3"
     misc_feature    624..728
                     /gene="IFIT1B"
                     /gene_synonym="bA149I23.6; IFIT1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T764.1);
                     Region: TPR 4"
     misc_feature    831..932
                     /gene="IFIT1B"
                     /gene_synonym="bA149I23.6; IFIT1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T764.1);
                     Region: TPR 5"
     misc_feature    1098..1199
                     /gene="IFIT1B"
                     /gene_synonym="bA149I23.6; IFIT1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T764.1);
                     Region: TPR 6"
     misc_feature    1212..1316
                     /gene="IFIT1B"
                     /gene_synonym="bA149I23.6; IFIT1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T764.1);
                     Region: TPR 7"
     misc_feature    1389..1490
                     /gene="IFIT1B"
                     /gene_synonym="bA149I23.6; IFIT1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T764.1);
                     Region: TPR 8"
     regulatory      1950..1955
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFIT1B"
                     /gene_synonym="bA149I23.6; IFIT1L"
                     /note="hexamer: AATAAA"
     polyA_site      1972
                     /gene="IFIT1B"
                     /gene_synonym="bA149I23.6; IFIT1L"
                     /note="major polyA site"
ORIGIN
        1 agaactctgt ggatgaacct tgaaggagcc tccaagcctg aaccaaagca ctacagatca
       61 cctgctatct tcatagcacc atgagtgaag aatctgatgg aaagcttatt gaagacagcc
      121 tgattcagct gagatgtcac tttacatgga agttgttaat tgaagcccct gaaattcctg
      181 atttagaaaa caggatctgg gaagagattc agttcctgga caccaaatac aatgtgggaa
      241 tacacaacct actagcctat gtgaaacacc tgaaaggcca gaatgaggaa gccctggtca
      301 gcttgaaaaa ggctgaagac ttaattcaga aagaacatgc caaccaagca gatattagaa
      361 gtctggtgac ctggggcaac tttgcctggg tgtattacca catgggcaga ttggcagaag
      421 cccagactta cctggacaag gtggagaaca cttgcaagaa gtttgcaaat ccttcccgct
      481 atagaatgga gtgtccagag gtggactgtg aggaaggatg ggccttggcg aagtgtggtg
      541 gaaagaatta tgaacgggcc aagacctgct ttgaaaaggc tctggaaggg aaccctgaaa
      601 accctgaatt caatactggg tacgcaatca ccgtctatcg cctggataaa tttaacacag
      661 catcagggag gaataaggca ttttctctgc acgtcctaaa acgagctgtc aggctaaatc
      721 cagatgatgt atatattagg gttctccttg ccctgaagct tcaggatgaa ggacaggaag
      781 ctgaaggaga aaagtacatt gaagaagctc tgaccagtat atcttcacag gcctatgtct
      841 ttcaatatgc agccaagttt tatcgaagaa aagggtctgt ggataaagct cttgagctct
      901 taaaaatggc cttggagaca acacccactt ctgccttcct gcatcaccaa atggggcttt
      961 gctacagggc acaaatgatc caaatcaagg aagctacaaa ctggcagcct agagggcaag
     1021 atagggaaac tgtggacaga ttggttcaat tggctatatg caaatttgaa aagactataa
     1081 tgttaaagcg aacatttgag atggcctatg ttgacctggc tgaaacgtat gcagaaatag
     1141 gccaccacag aaaggctgag gaacattttc agaaagggtt acgcatgaag atctttgaag
     1201 atcagctaaa gcaagagatt cattaccact acggccgttt ccaagaacat catgggaaat
     1261 ctcaagataa agcaattacc cattatttaa aaggtttgaa aatagaaaaa atgtcccatt
     1321 ccagggaaaa acttctcaat gctttagaga aattggctaa aagatgtatt caccagaatg
     1381 tacgggttgt ggaaagtgtc agcctccttg ggcttatcca caaattgaaa ggagaagtaa
     1441 gtgatgcttt gctgtgctat gagagggctc tgaggctggc tgctgacctg aaccctatat
     1501 tttaacatag aggtcaccat tatccattta atggtcttat aactaaatag aatgactatg
     1561 aaattaaata atgcaaactt aaagctgttg gaaatttacc ttattttgag ccttgagagg
     1621 aatgtggctg tgtggcctga gttatgtagc atgcaactgc aacttctgct ttttcctgta
     1681 aatgatcagg aaaggccttg tggcaccaga cataagaccc cctgaaagta tcatccctcc
     1741 tgatggaatg gtaaagcaat ctttcttgga acatagcaag tagtaaccga tcaaattgct
     1801 ataacgtgtg tactgacctt atgtggaaaa tgctgcaacc ctgtttactg cctatgtaag
     1861 tgaaatctta acttccccat tttggaatgc tgactccagt cattaggtgt ctgtatttcc
     1921 tgagtggtta ccctcaagct ttgtgctcaa ataaactcta tacttaatca ta
//
LOCUS       NM_001011                732 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S7 (RPS7), mRNA.
ACCESSION   NM_001011
VERSION     NM_001011.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 732)
  AUTHORS   Skorodumova LO, Davydenko KA, Filatova AY, Skoblov MY, Kulemin NA,
            Khadzhieva MB, Zakharova ES, Gordeeva VD, Smetanina NS, Fedyushkina
            IV, Anastasevich LA and Larin SS.
  TITLE     Splice-site variant in the RPS7 5'-UTR leads to a decrease in the
            mRNA level and development of Diamond-Blackfan anemia
  JOURNAL   Clin Genet 103 (1), 93-96 (2023)
   PUBMED   36057918
  REMARK    GeneRIF: Splice-site variant in the RPS7 5'-UTR leads to a decrease
            in the mRNA level and development of Diamond-Blackfan anemia.
REFERENCE   2  (bases 1 to 732)
  AUTHORS   Kubickova A, Maceckova Z, Vojta P, Ondra M, Volejnikova J, Koralkova
            P, Jungova A, Jahoda O, Mojzikova R, Hadacova I, Cermak J,
            Horvathova M, Pospisilova D and Hajduch M.
  TITLE     Missense mutation in RPS7 causes Diamond-Blackfan anemia via
            alteration of erythrocyte metabolism, protein translation and
            induction of ribosomal stress
  JOURNAL   Blood Cells Mol Dis 97, 102690 (2022)
   PUBMED   35871033
  REMARK    GeneRIF: Missense mutation in RPS7 causes Diamond-Blackfan anemia
            via alteration of erythrocyte metabolism, protein translation and
            induction of ribosomal stress.
REFERENCE   3  (bases 1 to 732)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   4  (bases 1 to 732)
  AUTHORS   Wu L, Kou F, Ji Z, Li B, Zhang B, Guo Y and Yang L.
  TITLE     SMYD2 promotes tumorigenesis and metastasis of lung adenocarcinoma
            through RPS7
  JOURNAL   Cell Death Dis 12 (5), 439 (2021)
   PUBMED   33935284
  REMARK    GeneRIF: SMYD2 promotes tumorigenesis and metastasis of lung
            adenocarcinoma through RPS7. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 732)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 732)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   7  (bases 1 to 732)
  AUTHORS   Annilo T, Laan M, Stahl J and Metspalu A.
  TITLE     The human ribosomal protein S7-encoding gene: isolation, structure
            and localization in 2p25
  JOURNAL   Gene 165 (2), 297-302 (1995)
   PUBMED   8522193
REFERENCE   8  (bases 1 to 732)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 732)
  AUTHORS   Mundus DA, Bulygin KN, Yamkovoy VI, Malygin AA, Repkova MN,
            Vratskikh LV, Venijaminova AG, Vladimirov SN and Karpova GG.
  TITLE     Structural arrangement of the codon-anticodon interaction area in
            human placenta ribosomes. Affinity labelling of the 40S subunits by
            derivatives of oligoribonucleotides containing the AUG codon
  JOURNAL   Biochim Biophys Acta 1173 (3), 273-282 (1993)
   PUBMED   8318536
REFERENCE   10  (bases 1 to 732)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301769
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CK125944.1, SRR5189655.161158.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000645674.2/ ENSP00000496757.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BU963807.1, BC002866.2 and BF312642.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 11, 2018 this sequence version replaced NM_001011.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S7E family of ribosomal proteins. It is located in the
            cytoplasm. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..732
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.3"
     gene            1..732
                     /gene="RPS7"
                     /gene_synonym="DBA8; eS7; S7"
                     /note="ribosomal protein S7"
                     /db_xref="GeneID:6201"
                     /db_xref="HGNC:HGNC:10440"
                     /db_xref="MIM:603658"
     misc_feature    41..43
                     /gene="RPS7"
                     /gene_synonym="DBA8; eS7; S7"
                     /note="upstream in-frame stop codon"
     CDS             110..694
                     /gene="RPS7"
                     /gene_synonym="DBA8; eS7; S7"
                     /EC_number="3.6.5.3"
                     /note="40S ribosomal protein S7"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS7"
                     /protein_id="NP_001002.1"
                     /db_xref="CCDS:CCDS1648.1"
                     /db_xref="GeneID:6201"
                     /db_xref="HGNC:HGNC:10440"
                     /db_xref="MIM:603658"
                     /translation="MFSSSAKIVKPNGEKPDEFESGISQALLELEMNSDLKAQLRELNI
                     TAAKEIEVGGGRKAIIIFVPVPQLKSFQKIQVRLVRELEKKFSGKHVVFIAQRRILPKP
                     TRKSRTKNKQKRPRSRTLTAVHDAILEDLVFPSEIVGKRIRVKLDGSRLIKVHLDKAQQ
                     NNVEHKVETFSGVYKKLTGKDVNFEFPEFQL"
     misc_feature    110..112
                     /gene="RPS7"
                     /gene_synonym="DBA8; eS7; S7"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P62081.1); acetylation site"
     misc_feature    329..331
                     /gene="RPS7"
                     /gene_synonym="DBA8; eS7; S7"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62081.1); acetylation site"
     regulatory      708..713
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS7"
                     /gene_synonym="DBA8; eS7; S7"
                     /note="hexamer: AATAAA"
     polyA_site      732
                     /gene="RPS7"
                     /gene_synonym="DBA8; eS7; S7"
                     /note="major polyA site"
ORIGIN
        1 ctcgcgctgt ttccgcctct tgccttcgga cgccggattt tgacgtgctc tcgcgagatt
       61 tgggtctctt cctaagccgg cgctcggcaa gttctcccag gagaaagcca tgttcagttc
      121 gagcgccaag atcgtgaagc ccaatggcga gaagccggac gagttcgagt ccggcatctc
      181 ccaggctctt ctggagctgg agatgaactc ggacctcaag gctcagctca gggagctgaa
      241 tattacggca gctaaggaaa ttgaagttgg tggtggtcgg aaagctatca taatctttgt
      301 tcccgttcct caactgaaat ctttccagaa aatccaagtc cggctagtac gcgaattgga
      361 gaaaaagttc agtgggaagc atgtcgtctt tatcgctcag aggagaattc tgcctaagcc
      421 aactcgaaaa agccgtacaa aaaataagca aaagcgtccc aggagccgta ctctgacagc
      481 tgtgcacgat gccatccttg aggacttggt cttcccaagc gaaattgtgg gcaagagaat
      541 ccgcgtcaaa ctagatggca gccggctcat aaaggttcat ttggacaaag cacagcagaa
      601 caatgtggaa cacaaggttg aaactttttc tggtgtctat aagaagctca cgggcaagga
      661 tgttaatttt gaattcccag agtttcaatt gtaaacaaaa atgactaaat aaaaagtata
      721 tattcacagt ac
//
LOCUS       NM_001011547            3162 bp    mRNA    linear   PRI 19-JAN-2023
DEFINITION  Homo sapiens solute carrier family 5 member 9 (SLC5A9), transcript
            variant 2, mRNA.
ACCESSION   NM_001011547
VERSION     NM_001011547.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3162)
  AUTHORS   Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanche H, Schreiber
            S and Nebel A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat Res 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 3162)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   3  (bases 1 to 3162)
  AUTHORS   Tazawa S, Yamato T, Fujikura H, Hiratochi M, Itoh F, Tomae M,
            Takemura Y, Maruyama H, Sugiyama T, Wakamatsu A, Isogai T and Isaji
            M.
  TITLE     SLC5A9/SGLT4, a new Na+-dependent glucose transporter, is an
            essential transporter for mannose, 1,5-anhydro-D-glucitol, and
            fructose
  JOURNAL   Life Sci 76 (9), 1039-1050 (2005)
   PUBMED   15607332
  REMARK    GeneRIF: SGLT4 would have unique physiological functions (i.e.,
            absorption and/or reabsorption of Man, 1,5AG, and Fru, in addition
            to Glc). Erratum:[Life Sci. 2010 Oct 9;87(15-16):514]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK131200.1, BC104863.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000438567.7/ ENSP00000401730.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC104857.1, AL109659.20 and AI767388.1.
            On Jun 3, 2019 this sequence version replaced NM_001011547.2.
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the mid coding region, compared to variant 1, resulting in
            an isoform (2) that is shorter than isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3162
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p33"
     gene            1..3162
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="solute carrier family 5 member 9"
                     /db_xref="GeneID:200010"
                     /db_xref="HGNC:HGNC:22146"
                     /db_xref="MIM:620216"
     misc_feature    16..18
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="upstream in-frame stop codon"
     CDS             22..2067
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="isoform 2 is encoded by transcript variant 2;
                     sodium/glucose cotransporter 4; hSGLT4; Na(+)/glucose
                     cotransporter 4; solute carrier family 5 (sodium/glucose
                     cotransporter), member 9; solute carrier family 5
                     (sodium/sugar cotransporter), member 9"
                     /codon_start=1
                     /product="sodium/glucose cotransporter 4 isoform 2"
                     /protein_id="NP_001011547.2"
                     /db_xref="CCDS:CCDS30709.2"
                     /db_xref="GeneID:200010"
                     /db_xref="HGNC:HGNC:22146"
                     /db_xref="MIM:620216"
                     /translation="MSKELAAMGPGASGDGVRTETAPHIALDSRVGLHAYDISVVVIYF
                     VFVIAVGIWSSIRASRGTIGGYFLAGRSMSWWPIGASLMSSNVGSGLFIGLAGTGAAGG
                     LAVGGFEWNATWLLLALGWVFVPVYIAAGVVTMPQYLKKRFGGQRIQVYMSVLSLILYI
                     FTKISTDIFSGALFIQMALGWNLYLSTGILLVVTAVYTIAGGLMAVIYTDALQTVIMVG
                     GALVLMFLGFQDVGWYPGLEQRYRQAIPNVTVPNTTCHLPRPDAFHILRDPVSGDIPWP
                     GLIFGLTVLATWCWCTDQVIVQRSLSAKSLSHAKGGSVLGGYLKILPMFFIVMPGMISR
                     ALFPDEVGCVDPDVCQRICGARVGCSNIAYPKLVMALMPVGLRGLMIAVIMAALMSSLT
                     SIFNSSSTLFTIDVWQRFRRKSTEQELMVVGRVFVVFLVVISILWIPIIQSSNSGQLFD
                     YIQAVTSYLAPPITALFLLAIFCKRVTEPGAFWGLVFGLGVGLLRMILEFSYPAPACGE
                     VDRRPAVLKDFHYLYFAILLCGLTAIVIVIVSLCTTPIPEEQLTRLTWWTRNCPLSELE
                     KEAHESTPEISERPAGECPAGGGAAENSSLGQEQPEAPSRSWGKLLWSWFCGLSGTPEQ
                     ALSPAEKAALEQKLTSIEEEPLWRHVCNINAVLLLAINIFLWGYFA"
     misc_feature    130..192
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M3M2.2);
                     transmembrane region"
     misc_feature    247..315
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M3M2.2);
                     transmembrane region"
     misc_feature    364..426
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M3M2.2);
                     transmembrane region"
     misc_feature    493..555
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M3M2.2);
                     transmembrane region"
     misc_feature    592..654
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M3M2.2);
                     transmembrane region"
     misc_feature    673..735
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M3M2.2);
                     transmembrane region"
     misc_feature    772..774
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q2M3M2.2); glycosylation site"
     misc_feature    847..909
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M3M2.2);
                     transmembrane region"
     misc_feature    973..1035
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M3M2.2);
                     transmembrane region"
     misc_feature    1171..1239
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M3M2.2);
                     transmembrane region"
     misc_feature    1303..1365
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M3M2.2);
                     transmembrane region"
     misc_feature    1399..1461
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M3M2.2);
                     transmembrane region"
     misc_feature    1483..1545
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M3M2.2);
                     transmembrane region"
     misc_feature    1612..1674
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M3M2.2);
                     transmembrane region"
     misc_feature    1756..1863
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M3M2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1831..1833
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q2M3M2.2); phosphorylation site"
     misc_feature    1834..1836
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q2M3M2.2); phosphorylation site"
     misc_feature    2002..2064
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M3M2.2);
                     transmembrane region"
     regulatory      3142..3147
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="hexamer: AATAAA"
     polyA_site      3162
                     /gene="SLC5A9"
                     /gene_synonym="SGLT4"
                     /note="major polyA site"
ORIGIN
        1 gctgttgacc aacactaaca gatgagcaag gagctggcag caatggggcc tggagcttca
       61 ggggacgggg tcaggactga gacagctcca cacatagcac tggactccag agttggtctg
      121 cacgcctacg acatcagcgt ggtggtcatc tactttgtct tcgtcattgc tgtggggatc
      181 tggtcgtcca tccgtgcaag tcgagggacc attggcggct atttcctggc cgggaggtcc
      241 atgagctggt ggccaattgg agcatctctg atgtccagca atgtgggcag tggcttgttc
      301 atcggcctgg ctgggacagg ggctgccgga ggccttgccg taggtggctt cgagtggaac
      361 gcaacctggc tgctcctggc ccttggctgg gtcttcgtcc ctgtgtacat cgcagcaggt
      421 gtggtcacaa tgccgcagta tctgaagaag cgatttgggg gccagaggat ccaggtgtac
      481 atgtctgtcc tgtctctcat cctctacatc ttcaccaaga tctcgactga catcttctct
      541 ggagccctct tcatccagat ggcattgggc tggaacctgt acctctccac agggatcctg
      601 ctggtggtga ctgccgtcta caccattgca ggtggcctca tggccgtgat ctacacagat
      661 gctctgcaga cggtgatcat ggtaggggga gccctggtcc tcatgtttct gggctttcag
      721 gacgtgggct ggtacccagg cctggagcag cggtacaggc aggccatccc taatgtcaca
      781 gtccccaaca ccacctgtca cctcccacgg cccgatgctt tccacattct tcgggaccct
      841 gtgagcgggg acatcccttg gccaggtctc attttcgggc tcacagtgct ggccacctgg
      901 tgttggtgca cagaccaggt cattgtgcag cggtctctct cggccaagag tctgtctcat
      961 gccaagggag gctccgtgct ggggggctac ctgaagatcc tccccatgtt cttcatcgtc
     1021 atgcctggca tgatcagccg ggccctgttc ccagacgagg tgggctgcgt ggaccctgat
     1081 gtctgccaaa gaatctgtgg ggcccgagtg ggatgttcca acattgccta ccctaagttg
     1141 gtcatggccc tcatgcctgt tggtctgcgg gggctgatga ttgccgtgat catggccgct
     1201 ctcatgagct cactcacctc catcttcaac agcagcagca ccctgttcac cattgatgtg
     1261 tggcagcgct tccgcaggaa gtcaacagag caggagctga tggtggtggg cagagtgttt
     1321 gtggtgttcc tggttgtcat cagcatcctc tggatcccca tcatccaaag ctccaacagt
     1381 gggcagctct tcgactacat ccaggctgtc accagttacc tggccccacc catcaccgct
     1441 ctcttcctgc tggccatctt ctgcaagagg gtcacagagc ccggagcttt ctggggcctc
     1501 gtgtttggcc tgggagtggg gcttctgcgt atgatcctgg agttctcata cccagcgcca
     1561 gcctgtgggg aggtggaccg gaggccagca gtgctgaagg acttccacta cctgtacttt
     1621 gcaatcctcc tctgcgggct cactgccatc gtcattgtca ttgtcagcct ctgtacaact
     1681 cccatccctg aggaacagct cacacgcctc acatggtgga ctcggaactg ccccctctct
     1741 gagctggaga aggaggccca cgagagcaca ccggagatat ccgagaggcc agccggggag
     1801 tgccctgcag gaggtggagc ggcagagaac tcgagcctgg gccaggagca gcctgaagcc
     1861 ccaagcaggt cctggggaaa gttgctctgg agctggttct gtgggctctc tggaacaccg
     1921 gagcaggccc tgagcccagc agagaaggct gcgctagaac agaagctgac aagcattgag
     1981 gaggagccac tctggagaca tgtctgcaac atcaatgctg tccttttgct ggccatcaac
     2041 atcttcctct ggggctattt tgcgtgattc cacagacctg gcttcagtgt agacagatta
     2101 aacaaagccc aagcctgtca gccacagaaa caggctctcc tcttactttg ctgtctaaac
     2161 tggagatcac agaagtcaag actgcaagct cccctgaaga gaatccaact caacctgcac
     2221 acttgacaag tggagaaaca gaagcccaga gagagcactg ggtttgttca ggaccaccca
     2281 gaaggtgtca cacggggttt ccccactctt tctgatatat tgccttacag acctacctca
     2341 aacacactgt ttccaccctc ttcttgaatg tattcagtag cctttactga atgtgtgtct
     2401 tgagagtaga aaaatggagg atacaagaaa aggagcagga agaaatttgc aaaaatccaa
     2461 gagcaccttt gctccccctt atcctccttc ctcttcccct ttctagttcc cctacctctc
     2521 tatctttcta ttctcaccaa taatctcttt gttgcatgaa tttacccagg agagtcctat
     2581 atttccattg gtggctccac agtggtggct gtcagacccg aaggggtggg gagccaaggg
     2641 tggactttaa gcatggtgac agatggtatt ttgggcagaa agctcttaga caatggacta
     2701 tccaaagcac tatttaaatt ctgcctcttc ctactctcta acccaaatat gcacaaactc
     2761 tctatggcct tgagaagcag ttggagagac atgacttgtt aaaacctcaa ggaatcaaga
     2821 catgttactc tgtatttaag ggtaagcccc acagcgggca gcacaaacag cctgggagcc
     2881 actgtgcctg tgcttctctg tccttctccc tttgcttgcc atgaatccgc ataccttgga
     2941 atacactgtg accccagtta agtgtccctt cgccaggaag ctgccgcaac gtccagacct
     3001 gggtcaagtt cccactcctg ctcccatagc cttgacctgc ttctgtcaca gcactgatca
     3061 cactgagatg gaagactcca gggggcaagg accaagggcc atatcccaag tgactttgta
     3121 cccagaaaat aacagctgtt caataaatgt gtattgagtt aa
//
LOCUS       NM_001011548            1724 bp    mRNA    linear   PRI 11-JUN-2023
DEFINITION  Homo sapiens MAGE family member A4 (MAGEA4), transcript variant 1,
            mRNA.
ACCESSION   NM_001011548
VERSION     NM_001011548.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1724)
  AUTHORS   Hashimoto K, Nishimura S, Shinyashiki Y, Ito T, Kakinoki R and Akagi
            M.
  TITLE     Involvement of NY-ESO-1 and MAGE-A4 in the pathogenesis of desmoid
            tumors
  JOURNAL   Medicine (Baltimore) 102 (22), e33908 (2023)
   PUBMED   37266606
  REMARK    GeneRIF: Involvement of NY-ESO-1 and MAGE-A4 in the pathogenesis of
            desmoid tumors.
REFERENCE   2  (bases 1 to 1724)
  AUTHORS   Cai R, Zhao F, Zhou H, Wang Z, Lin D, Huang L, Xie W, Chen J, Zhou
            L, Zhang N and Huang C.
  TITLE     A tumor-associated autoantibody panel for the detection of non-small
            cell lung cancer
  JOURNAL   Front Oncol 12, 1056572 (2022)
   PUBMED   36531074
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1724)
  AUTHORS   Hashimoto K, Nishimura S, Ito T, Oka N, Kakinoki R and Akagi M.
  TITLE     Clinicopathological assessment of cancer/testis antigens NY-ESO-1
            and MAGE-A4 in osteosarcoma
  JOURNAL   Eur J Histochem 66 (3), 3377 (2022)
   PUBMED   35736245
  REMARK    GeneRIF: Clinicopathological assessment of cancer/testis antigens
            NYESO1 and MAGEA4 in osteosarcoma. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1724)
  AUTHORS   Coles CH, McMurran C, Lloyd A, Hock M, Hibbert L, Raman MCC, Hayes
            C, Lupardus P, Cole DK and Harper S.
  TITLE     T cell receptor interactions with human leukocyte antigen govern
            indirect peptide selectivity for the cancer testis antigen MAGE-A4
  JOURNAL   J Biol Chem 295 (33), 11486-11494 (2020)
   PUBMED   32532817
  REMARK    GeneRIF: T cell receptor interactions with human leukocyte antigen
            govern indirect peptide selectivity for the cancer testis antigen
            MAGE-A4.
REFERENCE   5  (bases 1 to 1724)
  AUTHORS   Ishihara M, Kageyama S, Miyahara Y, Ishikawa T, Ueda S, Soga N,
            Naota H, Mukai K, Harada N, Ikeda H and Shiku H.
  TITLE     MAGE-A4, NY-ESO-1 and SAGE mRNA expression rates and co-expression
            relationships in solid tumours
  JOURNAL   BMC Cancer 20 (1), 606 (2020)
   PUBMED   32600281
  REMARK    GeneRIF: MAGE-A4, NY-ESO-1 and SAGE mRNA expression rates and
            co-expression relationships in solid tumours. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 1724)
  AUTHORS   Brasseur F, Rimoldi D, Lienard D, Lethe B, Carrel S, Arienti F,
            Suter L, Vanwijck R, Bourlond A, Humblet Y et al.
  TITLE     Expression of MAGE genes in primary and metastatic cutaneous
            melanoma
  JOURNAL   Int J Cancer 63 (3), 375-380 (1995)
   PUBMED   7591235
REFERENCE   7  (bases 1 to 1724)
  AUTHORS   Rogner UC, Wilke K, Steck E, Korn B and Poustka A.
  TITLE     The melanoma antigen gene (MAGE) family is clustered in the
            chromosomal band Xq28
  JOURNAL   Genomics 29 (3), 725-731 (1995)
   PUBMED   8575766
REFERENCE   8  (bases 1 to 1724)
  AUTHORS   Imai Y, Shichijo S, Yamada A, Katayama T, Yano H and Itoh K.
  TITLE     Sequence analysis of the MAGE gene family encoding human
            tumor-rejection antigens
  JOURNAL   Gene 160 (2), 287-290 (1995)
   PUBMED   7642112
REFERENCE   9  (bases 1 to 1724)
  AUTHORS   Ding M, Beck RJ, Keller CJ and Fenton RG.
  TITLE     Cloning and analysis of MAGE-1-related genes
  JOURNAL   Biochem Biophys Res Commun 202 (1), 549-555 (1994)
   PUBMED   8037761
REFERENCE   10  (bases 1 to 1724)
  AUTHORS   De Plaen E, Arden K, Traversari C, Gaforio JJ, Szikora JP, De Smet
            C, Brasseur F, van der Bruggen P, Lethe B, Lurquin C et al.
  TITLE     Structure, chromosomal localization, and expression of 12 genes of
            the MAGE family
  JOURNAL   Immunogenetics 40 (5), 360-369 (1994)
   PUBMED   7927540
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX479311.1, DA912058.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000276344.6/ ENSP00000276344.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX479311.1 and AF274855.3.
            This sequence is a reference standard in the RefSeqGene project.
            Summary: This gene is a member of the MAGEA gene family. The
            members of this family encode proteins with 50 to 80% sequence
            identity to each other. The promoters and first exons of the MAGEA
            genes show considerable variability, suggesting that the existence
            of this gene family enables the same function to be expressed under
            different transcriptional controls. The MAGEA genes are clustered
            at chromosomal location Xq28. They have been implicated in some
            hereditary disorders, such as dyskeratosis congenita. Several
            variants encoding the same protein have been found for this gene.
            [provided by RefSeq, Aug 2020].
            Transcript Variant: This variant (1) differs in the 5' UTR compared
            to variant 5. All twelve variants encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1724
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1724
                     /gene="MAGEA4"
                     /gene_synonym="CT1.4; MAGE-41; MAGE-X2; MAGE4; MAGE4A;
                     MAGE4B"
                     /note="MAGE family member A4"
                     /db_xref="GeneID:4103"
                     /db_xref="HGNC:HGNC:6802"
                     /db_xref="MIM:300175"
     misc_feature    36..38
                     /gene="MAGEA4"
                     /gene_synonym="CT1.4; MAGE-41; MAGE-X2; MAGE4; MAGE4A;
                     MAGE4B"
                     /note="upstream in-frame stop codon"
     CDS             219..1172
                     /gene="MAGEA4"
                     /gene_synonym="CT1.4; MAGE-41; MAGE-X2; MAGE4; MAGE4A;
                     MAGE4B"
                     /note="cancer/testis antigen family 1, member 4; MAGE-4
                     antigen; MAGE-41 antigen; MAGE-X2 antigen; cancer/testis
                     antigen 1.4; melanoma antigen family A, 4; melanoma antigen
                     family A4"
                     /codon_start=1
                     /product="melanoma-associated antigen 4"
                     /protein_id="NP_001011548.1"
                     /db_xref="CCDS:CCDS14702.1"
                     /db_xref="GeneID:4103"
                     /db_xref="HGNC:HGNC:6802"
                     /db_xref="MIM:300175"
                     /translation="MSSEQKSQHCKPEEGVEAQEEALGLVGAQAPTTEEQEAAVSSSSP
                     LVPGTLEEVPAAESAGPPQSPQGASALPTTISFTCWRQPNEGSSSQEEEGPSTSPDAES
                     LFREALSNKVDELAHFLLRKYRAKELVTKAEMLERVIKNYKRCFPVIFGKASESLKMIF
                     GIDVKEVDPASNTYTLVTCLGLSYDGLLGNNQIFPKTGLLIIVLGTIAMEGDSASEEEI
                     WEELGVMGVYDGREHTVYGEPRKLLTQDWVQENYLEYRQVPGSNPARYEFLWGPRALAE
                     TSYVKVLEHVVRVNARVRIAYPSLREAALLEEEEGV"
     misc_feature    219..524
                     /gene="MAGEA4"
                     /gene_synonym="CT1.4; MAGE-41; MAGE-X2; MAGE4; MAGE4A;
                     MAGE4B"
                     /note="propagated from UniProtKB/Swiss-Prot (P43358.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1703..1708
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAGEA4"
                     /gene_synonym="CT1.4; MAGE-41; MAGE-X2; MAGE4; MAGE4A;
                     MAGE4B"
                     /note="hexamer: AATAAA"
     regulatory      1707..1712
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAGEA4"
                     /gene_synonym="CT1.4; MAGE-41; MAGE-X2; MAGE4; MAGE4A;
                     MAGE4B"
                     /note="hexamer: AATAAT"
     polyA_site      1711
                     /gene="MAGEA4"
                     /gene_synonym="CT1.4; MAGE-41; MAGE-X2; MAGE4; MAGE4A;
                     MAGE4B"
     polyA_site      1724
                     /gene="MAGEA4"
                     /gene_synonym="CT1.4; MAGE-41; MAGE-X2; MAGE4; MAGE4A;
                     MAGE4B"
                     /note="major polyA site"
ORIGIN
        1 agagacaagc gagcttctgc gtctgactcg cagcttgaga ctggcggagg gaagcccgcc
       61 caggctctat aaggagacaa ggttctgagc agacaggcca accggaggac aggattccct
      121 ggaggccaca gaggagcacc aaggagaaga tctgcctgtg ggtccccatt gcccagcttt
      181 tgcctgcact cttgcctgct gccctgacca gagtcatcat gtcttctgag cagaagagtc
      241 agcactgcaa gcctgaggaa ggcgttgagg cccaagaaga ggccctgggc ctggtgggtg
      301 cacaggctcc tactactgag gagcaggagg ctgctgtctc ctcctcctct cctctggtcc
      361 ctggcaccct ggaggaagtg cctgctgctg agtcagcagg tcctccccag agtcctcagg
      421 gagcctctgc cttacccact accatcagct tcacttgctg gaggcaaccc aatgagggtt
      481 ccagcagcca agaagaggag gggccaagca cctcgcctga cgcagagtcc ttgttccgag
      541 aagcactcag taacaaggtg gatgagttgg ctcattttct gctccgcaag tatcgagcca
      601 aggagctggt cacaaaggca gaaatgctgg agagagtcat caaaaattac aagcgctgct
      661 ttcctgtgat cttcggcaaa gcctccgagt ccctgaagat gatctttggc attgacgtga
      721 aggaagtgga ccccgccagc aacacctaca cccttgtcac ctgcctgggc ctttcctatg
      781 atggcctgct gggtaataat cagatctttc ccaagacagg ccttctgata atcgtcctgg
      841 gcacaattgc aatggagggc gacagcgcct ctgaggagga aatctgggag gagctgggtg
      901 tgatgggggt gtatgatggg agggagcaca ctgtctatgg ggagcccagg aaactgctca
      961 cccaagattg ggtgcaggaa aactacctgg agtaccggca ggtacccggc agtaatcctg
     1021 cgcgctatga gttcctgtgg ggtccaaggg ctctggctga aaccagctat gtgaaagtcc
     1081 tggagcatgt ggtcagggtc aatgcaagag ttcgcattgc ctacccatcc ctgcgtgaag
     1141 cagctttgtt agaggaggaa gagggagtct gagcatgagt tgcagccagg gctgtgggga
     1201 aggggcaggg ctgggccagt gcatctaaca gccctgtgca gcagcttccc ttgcctcgtg
     1261 taacatgagg cccattcttc actctgtttg aagaaaatag tcagtgttct tagtagtggg
     1321 tttctatttt gttggatgac ttggagattt atctctgttt ccttttacaa ttgttgaaat
     1381 gttcctttta atggatggtt gaattaactt cagcatccaa gtttatgaat cgtagttaac
     1441 gtatattgct gttaatatag tttaggagta agagtcttgt tttttattca gattgggaaa
     1501 tccgttctat tttgtgaatt tgggacataa taacagcagt ggagtaagta tttagaagtg
     1561 tgaattcacc gtgaaatagg tgagataaat taaaagatac ttaattcccg ccttatgcct
     1621 cagtctattc tgtaaaattt aaaaaatata tatgcatacc tggatttcct tggcttcgtg
     1681 aatgtaagag aaattaaatc tgaataaata attctttctg ttaa
//
LOCUS       NM_001011551            1636 bp    mRNA    linear   PRI 16-JUL-2023
DEFINITION  Homo sapiens C1GALT1 specific chaperone 1 (C1GALT1C1), transcript
            variant 2, mRNA.
ACCESSION   NM_001011551
VERSION     NM_001011551.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1636)
  AUTHORS   Ding R, Hu X, Hu W, Du Z, Huang P, Wang M, Sheng J, Ma Y, Wang A,
            Luan X, Dong M, Cao Q, Zou Y and Hu T.
  TITLE     Cosmc transfection decreases malignant behavior of Tn+ cells and
            enhances sensitivity to apoptosis when induced by Apo2L/TRAIL via
            alteration of O-glycan structure
  JOURNAL   Aging (Albany NY) 13 (19), 23393-23406 (2021)
   PUBMED   34644263
  REMARK    GeneRIF: Cosmc transfection decreases malignant behavior of Tn(+)
            cells and enhances sensitivity to apoptosis when induced by
            Apo2L/TRAIL via alteration of O-glycan structure.
REFERENCE   2  (bases 1 to 1636)
  AUTHORS   Shen B, Tong Y, Li Z, Yan H, Ye F, Wang Y and XCai X.
  TITLE     C1GALT1C1/COSMC is a novel prognostic biomarker for hepatocellular
            carcinoma
  JOURNAL   Clin Res Hepatol Gastroenterol 44 (3), 310-320 (2020)
   PUBMED   31471227
  REMARK    GeneRIF: C1GALT1C1/COSMC is a novel prognostic biomarker for
            hepatocellular carcinoma.
REFERENCE   3  (bases 1 to 1636)
  AUTHORS   Sun Q, Lan J, Zhang H, Zhou N, Liang Y and Liu X.
  TITLE     MicroRNA-196b targets COSMC in pediatric IgA nephropathy
  JOURNAL   Mol Med Rep 21 (5), 2260-2266 (2020)
   PUBMED   32186752
  REMARK    GeneRIF: MicroRNA196b targets COSMC in pediatric IgA nephropathy.
REFERENCE   4  (bases 1 to 1636)
  AUTHORS   Gao T, Du T, Hu X, Dong X, Li L, Wang Y, Liu J, Liu L, Gu T and Wen
            T.
  TITLE     Cosmc overexpression enhances malignancies in human colon cancer
  JOURNAL   J Cell Mol Med 24 (1), 362-370 (2020)
   PUBMED   31633299
  REMARK    GeneRIF: Cosmc overexpression enhances malignancies in human colon
            cancer.
REFERENCE   5  (bases 1 to 1636)
  AUTHORS   Sun X, Ju T and Cummings RD.
  TITLE     Differential expression of Cosmc, T-synthase and mucins in
            Tn-positive colorectal cancers
  JOURNAL   BMC Cancer 18 (1), 827 (2018)
   PUBMED   30115016
  REMARK    GeneRIF: In addition, we found that Tn-expressing colorectal cancers
            (CRC) cell lines had either loss-of-function mutations in Cosmc or
            reversible Tn antigen expression, which was not caused by the
            deficiency of T-synthase activity Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1636)
  AUTHORS   Narimatsu Y, Ikehara Y, Iwasaki H, Nonomura C, Sato T, Nakanishi H
            and Narimatsu H.
  TITLE     Immunocytochemical analysis for intracellular dynamics of C1GalT
            associated with molecular chaperone, Cosmc
  JOURNAL   Biochem Biophys Res Commun 366 (1), 199-205 (2008)
   PUBMED   18061573
  REMARK    GeneRIF: These results suggest that the intracellular dynamics of
            C1GalT is controlled by its specific molecular chaperon, Cosmc, in
            association with core 1 synthase activity.
REFERENCE   7  (bases 1 to 1636)
  AUTHORS   Li GS, Zhang H, Lv JC, Shen Y and Wang HY.
  TITLE     Variants of C1GALT1 gene are associated with the genetic
            susceptibility to IgA nephropathy
  JOURNAL   Kidney Int 71 (5), 448-453 (2007)
   PUBMED   17228361
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1636)
  AUTHORS   Ju T and Cummings RD.
  TITLE     Protein glycosylation: chaperone mutation in Tn syndrome
  JOURNAL   Nature 437 (7063), 1252 (2005)
   PUBMED   16251947
  REMARK    GeneRIF: Tn syndrome is associated with a somatic mutation in Cosmc,
            a gene on the X chromosome that encodes a molecular 'chaperone' that
            is required for the proper folding and hence full activity of
            T-synthase
REFERENCE   9  (bases 1 to 1636)
  AUTHORS   Ju T and Cummings RD.
  TITLE     A unique molecular chaperone Cosmc required for activity of the
            mammalian core 1 beta 3-galactosyltransferase
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16613-16618 (2002)
   PUBMED   12464682
REFERENCE   10  (bases 1 to 1636)
  AUTHORS   Kudo T, Iwai T, Kubota T, Iwasaki H, Takayma Y, Hiruma T, Inaba N,
            Zhang Y, Gotoh M, Togayachi A and Narimatsu H.
  TITLE     Molecular cloning and characterization of a novel
            UDP-Gal:GalNAc(alpha) peptide beta 1,3-galactosyltransferase
            (C1Gal-T2), an enzyme synthesizing a core 1 structure of O-glycan
  JOURNAL   J Biol Chem 277 (49), 47724-47731 (2002)
   PUBMED   12361956
  REMARK    GeneRIF: molecular cloning and characterization; C1Gal-T2 is the
            second candidate for core 1 synthase that plays an important role in
            synthesizing O-glycans in digestive organs Erratum:[J Biol Chem.
            2006 Aug 25;281(34):24999]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.135181.1,
            SRR1803616.143900.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000304661.6/ ENSP00000304364.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ238398.1, BC050441.1,
            AY358642.1 and BM971206.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001011551.2.
            Summary: This gene encodes a type II transmembrane protein that is
            similar to the core 1 beta1,3-galactosyltransferase 1, which
            catalyzes the synthesis of the core-1 structure, also known as
            Thomsen-Friedenreich antigen, on O-linked glycans. This gene
            product lacks the galactosyltransferase activity itself, but
            instead acts as a molecular chaperone required for the folding,
            stability and full activity of the core 1
            beta1,3-galactosyltransferase 1. Mutations in this gene have been
            associated with Tn syndrome. Alternatively spliced transcript
            variants encoding the same protein have been identified. [provided
            by RefSeq, Dec 2009].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1636
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     gene            1..1636
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="C1GALT1 specific chaperone 1"
                     /db_xref="GeneID:29071"
                     /db_xref="HGNC:HGNC:24338"
                     /db_xref="MIM:300611"
     misc_feature    39..41
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="upstream in-frame stop codon"
     CDS             144..1100
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="beta 1,3-galactosyltransferase 2; C38H2-like protein
                     1; core 1 beta3-galactosyltransferase-specific molecular
                     chaperone; core 1 beta3-Gal-T2; core 1
                     beta1,3-galactosyltransferase 2"
                     /codon_start=1
                     /product="C1GALT1-specific chaperone 1"
                     /protein_id="NP_001011551.1"
                     /db_xref="CCDS:CCDS14602.1"
                     /db_xref="GeneID:29071"
                     /db_xref="HGNC:HGNC:24338"
                     /db_xref="MIM:300611"
                     /translation="MLSESSSFLKGVMLGSIFCALITMLGHIRIGHGNRMHHHEHHHLQ
                     APNKEDILKISEDERMELSKSFRVYCIILVKPKDVSLWAAVKETWTKHCDKAEFFSSEN
                     VKVFESINMDTNDMWLMMRKAYKYAFDKYRDQYNWFFLARPTTFAIIENLKYFLLKKDP
                     SQPFYLGHTIKSGDLEYVGMEGGIVLSVESMKRLNSLLNIPEKCPEQGGMIWKISEDKQ
                     LAVCLKYAGVFAENAEDADGKDVFNTKSVGLSIKEAMTYHPNQVVEGCCSDMAVTFNGL
                     TPNQMHVMMYGVYRLRAFGHIFNDALVFLPPNGSDND"
     misc_feature    162..221
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96EU7.1);
                     transmembrane region"
     regulatory      1235..1240
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="hexamer: ATTAAA"
     polyA_site      1260
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="major polyA site"
     regulatory      1341..1346
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="hexamer: AATAAA"
     regulatory      1359..1364
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="hexamer: ATTATA"
     polyA_site      1362
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
     polyA_site      1380
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
     regulatory      1494..1499
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="hexamer: ATTAAA"
     polyA_site      1511
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="major polyA site"
     regulatory      1614..1619
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="hexamer: ATTAAA"
     polyA_site      1636
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
ORIGIN
        1 acctttagcg agaccaacga gagaacaccg cctgcagcta gaacagcctg gtcaggagcg
       61 taacggagtg gtgcgccaac gtgagaggaa acccgtgcgc ggctgcgctt tcctgtcccc
      121 aagccgttct agacgcggga aaaatgcttt ctgaaagcag ctcctttttg aagggtgtga
      181 tgcttggaag cattttctgt gctttgatca ctatgctagg acacattagg attggtcatg
      241 gaaatagaat gcaccaccat gagcatcatc acctacaagc tcctaacaaa gaagatatct
      301 tgaaaatttc agaggatgag cgcatggagc tcagtaagag ctttcgagta tactgtatta
      361 tccttgtaaa acccaaagat gtgagtcttt gggctgcagt aaaggagact tggaccaaac
      421 actgtgacaa agcagagttc ttcagttctg aaaatgttaa agtgtttgag tcaattaata
      481 tggacacaaa tgacatgtgg ttaatgatga gaaaagctta caaatacgcc tttgataagt
      541 atagagacca atacaactgg ttcttccttg cacgccccac tacgtttgct atcattgaaa
      601 acctaaagta ttttttgtta aaaaaggatc catcacagcc tttctatcta ggccacacta
      661 taaaatctgg agaccttgaa tatgtgggta tggaaggagg aattgtctta agtgtagaat
      721 caatgaaaag acttaacagc cttctcaata tcccagaaaa gtgtcctgaa cagggaggga
      781 tgatttggaa gatatctgaa gataaacagc tagcagtttg cctgaaatat gctggagtat
      841 ttgcagaaaa tgcagaagat gctgatggaa aagatgtatt taataccaaa tctgttgggc
      901 tttctattaa agaggcaatg acttatcacc ccaaccaggt agtagaaggc tgttgttcag
      961 atatggctgt tacttttaat ggactgactc caaatcagat gcatgtgatg atgtatgggg
     1021 tataccgcct tagggcattt gggcatattt tcaatgatgc attggttttc ttacctccaa
     1081 atggttctga caatgactga gaagtggtag aaaagcgtga atatgatctt tgtataggac
     1141 gtgtgttgtc attatttgta gtagtaacta catatccaat acagctgtat gtttcttttt
     1201 cttttctaat ttggtggcac tggtataacc acacattaaa gtcagtagta catttttaaa
     1261 tgagggtggt ttttttcttt aaaacacatg aacattgtaa atgtgttgga aagaagtgtt
     1321 ttaagaataa taattttgca aataaactat taataaatat tatatgtgat aaattctaaa
     1381 ttatgaacat tagaaatctg tggggcacat atttttgctg attggttaaa aaattttaac
     1441 aggtctttag cgttctaaga tatgcaaatg atatctctag ttgtgaattt gtgattaaag
     1501 taaaactttt agctgtgtgt tccctttact tctaatactg atttatgttc taagcctccc
     1561 caagttccaa tggatttgcc ttctcaaaat gtacaactaa gcaactaaag aaaattaaag
     1621 tgaaagttga aaaata
//
LOCUS       NM_001011552            4215 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens solute carrier family 9 member A4 (SLC9A4), mRNA.
ACCESSION   NM_001011552
VERSION     NM_001011552.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4215)
  AUTHORS   Grosche S, Marenholz I, Esparza-Gordillo J, Arnau-Soler A,
            Pairo-Castineira E, Ruschendorf F, Ahluwalia TS, Almqvist C, Arnold
            A, Baurecht H, Bisgaard H, Bonnelykke K, Brown SJ, Bustamante M,
            Curtin JA, Custovic A, Dharmage SC, Esplugues A, Falchi M,
            Fernandez-Orth D, Ferreira MAR, Franke A, Gerdes S, Gieger C,
            Hakonarson H, Holt PG, Homuth G, Hubner N, Hysi PG, Jarvelin MR,
            Karlsson R, Koppelman GH, Lau S, Lutz M, Magnusson PKE, Marks GB,
            Muller-Nurasyid M, Nothen MM, Paternoster L, Pennell CE, Peters A,
            Rawlik K, Robertson CF, Rodriguez E, Sebert S, Simpson A, Sleiman
            PMA, Standl M, Stolzl D, Strauch K, Szwajda A, Tenesa A, Thompson
            PJ, Ullemar V, Visconti A, Vonk JM, Wang CA, Weidinger S, Wielscher
            M, Worth CL, Xu CJ and Lee YA.
  CONSRTM   Australian Asthma Genetics Consortium (AAGC)
  TITLE     Rare variant analysis in eczema identifies exonic variants in DUSP1,
            NOTCH4 and SLC9A4
  JOURNAL   Nat Commun 12 (1), 6618 (2021)
   PUBMED   34785669
  REMARK    GeneRIF: Rare variant analysis in eczema identifies exonic variants
            in DUSP1, NOTCH4 and SLC9A4. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4215)
  AUTHORS   Ouellette TW, Wright GE, Drogemoller BI, Ross CJ and Carleton BC.
  TITLE     Integrating disease and drug-related phenotypes for improved
            identification of pharmacogenomic variants
  JOURNAL   Pharmacogenomics 22 (5), 251-261 (2021)
   PUBMED   33769074
  REMARK    GeneRIF: Integrating disease and drug-related phenotypes for
            improved identification of pharmacogenomic variants.
REFERENCE   3  (bases 1 to 4215)
  AUTHORS   Ho JE, Chen WY, Chen MH, Larson MG, McCabe EL, Cheng S, Ghorbani A,
            Coglianese E, Emilsson V, Johnson AD, Walter S, Franceschini N,
            O'Donnell CJ, Dehghan A, Lu C, Levy D, Newton-Cheh C, Lin H, Felix
            JF, Schreiter ER, Vasan RS, Januzzi JL, Lee RT and Wang TJ.
  CONSRTM   CARDIoGRAM Consortium; CHARGE Inflammation Working Group; CHARGE
            Heart Failure Working Group
  TITLE     Common genetic variation at the IL1RL1 locus regulates IL-33/ST2
            signaling
  JOURNAL   J Clin Invest 123 (10), 4208-4218 (2013)
   PUBMED   23999434
REFERENCE   4  (bases 1 to 4215)
  AUTHORS   Arena EA, Longo WE, Roberts KE, Geibel P, Nateqi J, Brandstetter M
            and Geibel JP.
  TITLE     Functional role of NHE4 as a pH regulator in rat and human colonic
            crypts
  JOURNAL   Am J Physiol Cell Physiol 302 (2), C412-C418 (2012)
   PUBMED   22049213
  REMARK    GeneRIF: Data demonstrate functional NHE4 activity in the rat and
            human colon and suggest that this exchanger is capable of modulating
            intracellular pH over a wide pH spectrum and may play an important
            role in maintaining cellular pH homeostasis.
REFERENCE   5  (bases 1 to 4215)
  AUTHORS   Okada Y, Hirota T, Kamatani Y, Takahashi A, Ohmiya H, Kumasaka N,
            Higasa K, Yamaguchi-Kabata Y, Hosono N, Nalls MA, Chen MH, van Rooij
            FJ, Smith AV, Tanaka T, Couper DJ, Zakai NA, Ferrucci L, Longo DL,
            Hernandez DG, Witteman JC, Harris TB, O'Donnell CJ, Ganesh SK,
            Matsuda K, Tsunoda T, Tanaka T, Kubo M, Nakamura Y, Tamari M,
            Yamamoto K and Kamatani N.
  TITLE     Identification of nine novel loci associated with white blood cell
            subtypes in a Japanese population
  JOURNAL   PLoS Genet 7 (6), e1002067 (2011)
   PUBMED   21738478
REFERENCE   6  (bases 1 to 4215)
  AUTHORS   Hunt KA, Zhernakova A, Turner G, Heap GA, Franke L, Bruinenberg M,
            Romanos J, Dinesen LC, Ryan AW, Panesar D, Gwilliam R, Takeuchi F,
            McLaren WM, Holmes GK, Howdle PD, Walters JR, Sanders DS, Playford
            RJ, Trynka G, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens
            FM, O'Morain C, Kennedy NP, Kelleher D, Pennington DJ, Strachan DP,
            McArdle WL, Mein CA, Wapenaar MC, Deloukas P, McGinnis R, McManus R,
            Wijmenga C and van Heel DA.
  TITLE     Newly identified genetic risk variants for celiac disease related to
            the immune response
  JOURNAL   Nat Genet 40 (4), 395-402 (2008)
   PUBMED   18311140
REFERENCE   7  (bases 1 to 4215)
  AUTHORS   Beltran AR, Ramirez MA, Carraro-Lacroix LR, Hiraki Y, Reboucas NA
            and Malnic G.
  TITLE     NHE1, NHE2, and NHE4 contribute to regulation of cell pH in T84
            colon cancer cells
  JOURNAL   Pflugers Arch 455 (5), 799-810 (2008)
   PUBMED   17943310
  REMARK    GeneRIF: T84 human colon cells contain three isoforms of the Na+/H+
            exchanger, NHE1, NHE2, and NHE4, but not the Cl-dependent NHE
REFERENCE   8  (bases 1 to 4215)
  AUTHORS   Inoue H, Nakamura Y, Nagita M, Takai T, Masuda M, Nakamura N and
            Kanazawa H.
  TITLE     Calcineurin homologous protein isoform 2 (CHP2), Na+/H+
            exchangers-binding protein, is expressed in intestinal epithelium
  JOURNAL   Biol Pharm Bull 26 (2), 148-155 (2003)
   PUBMED   12576672
REFERENCE   9  (bases 1 to 4215)
  AUTHORS   Szpirer C, Szpirer J, Riviere M, Levan G and Orlowski J.
  TITLE     Chromosomal assignment of four genes encoding Na/H exchanger
            isoforms in human and rat
  JOURNAL   Mamm Genome 5 (3), 153-159 (1994)
   PUBMED   8199403
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CR627411.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000295269.5/ ENSP00000295269.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007278.4, CR627411.1, DA442134.1 and AL833048.1.
            On May 17, 2019 this sequence version replaced NM_001011552.3.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4215
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q12.1"
     gene            1..4215
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="solute carrier family 9 member A4"
                     /db_xref="GeneID:389015"
                     /db_xref="HGNC:HGNC:11077"
                     /db_xref="MIM:600531"
     misc_feature    517..519
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="upstream in-frame stop codon"
     CDS             535..2931
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="solute carrier family 9, subfamily A (NHE4, cation
                     proton antiporter 4), member 4; solute carrier family 9
                     member 4; sodium/hydrogen exchanger 4; NHE-4; Na(+)/H(+)
                     exchanger 4; solute carrier family 9 (sodium/hydrogen
                     exchanger), member 4"
                     /codon_start=1
                     /product="sodium/hydrogen exchanger 4 precursor"
                     /protein_id="NP_001011552.2"
                     /db_xref="CCDS:CCDS33264.1"
                     /db_xref="GeneID:389015"
                     /db_xref="HGNC:HGNC:11077"
                     /db_xref="MIM:600531"
                     /translation="MALQMFVTYSPWNCLLLLVALECSEASSDLNESANSTAQYASNAW
                     FAAASSEPEEGISVFELDYDYVQIPYEVTLWILLASLAKIGFHLYHRLPGLMPESCLLI
                     LVGALVGGIIFGTDHKSPPVMDSSIYFLYLLPPIVLEGGYFMPTRPFFENIGSILWWAV
                     LGALINALGIGLSLYLICQVKAFGLGDVNLLQNLLFGSLISAVDPVAVLAVFEEARVNE
                     QLYMMIFGEALLNDGITVVLYNMLIAFTKMHKFEDIETVDILAGCARFIVVGLGGVLFG
                     IVFGFISAFITRFTQNISAIEPLIVFMFSYLSYLAAETLYLSGILAITACAVTMKKYVE
                     ENVSQTSYTTIKYFMKMLSSVSETLIFIFMGVSTVGKNHEWNWAFICFTLAFCQIWRAI
                     SVFALFYISNQFRTFPFSIKDQCIIFYSGVRGAGSFSLAFLLPLSLFPRKKMFVTATLV
                     VIYFTVFIQGITVGPLVRYLDVKKTNKKESINEELHIRLMDHLKAGIEDVCGHWSHYQV
                     RDKFKKFDHRYLRKILIRKNLPKSSIVSLYKKLEMKQAIEMVETGILSSTAFSIPHQAQ
                     RIQGIKRLSPEDVESIRDILTSNMYQVRQRTLSYNKYNLKPQTSEKQAKEILIRRQNTL
                     RESMRKGHSLPWGKPAGTKNIRYLSYPYGNPQSAGRDTRAAGFSDDDSSDPGSPSITFS
                     ACSRIGSLQKQEAQEIIPMKSLHRGRKAFSFGYQRNTSQEEYLGGVRRVALRPKPLFHA
                     VDEEGESGGESEGKASLVEVRSRWTADHGHGRDHHRSHSPLLQKK"
     sig_peptide     535..612
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    817..879
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI14.2);
                     transmembrane region"
     misc_feature    916..978
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI14.2);
                     transmembrane region"
     misc_feature    997..1059
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI14.2);
                     transmembrane region"
     misc_feature    1123..1185
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI14.2);
                     transmembrane region"
     misc_feature    1213..1275
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI14.2);
                     transmembrane region"
     misc_feature    1345..1407
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI14.2);
                     transmembrane region"
     misc_feature    1447..1509
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI14.2);
                     transmembrane region"
     misc_feature    1558..1560
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6AI14.2); glycosylation site"
     misc_feature    1603..1653
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI14.2);
                     transmembrane region"
     misc_feature    1687..1749
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI14.2);
                     transmembrane region"
     misc_feature    1885..1947
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI14.2);
                     transmembrane region"
     misc_feature    2518..2604
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI14.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2860..2928
                     /gene="SLC9A4"
                     /gene_synonym="NHE4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6AI14.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 attcaaaaca aatgagagga cagggggagg agagaaggaa caagcgcaga tcaggtagct
       61 ccttcttggg atctgataga cagggaaggt ttcctttcct cattagaagg actccagtga
      121 tctgtggaat gagcactaca gtatcctttt aaattttcac ccacaagaca aagccagtat
      181 gcagtgaaat gaggaaatgc ctttaagtga agagattttt atttctttca taaattgctc
      241 aagccatgat tggatggagg tcctccaggt agctccatgg actttaacaa gtctattgaa
      301 taactgcatt tgagttggaa gctgagttgc ctgaacacaa acgatttaaa ccagattaga
      361 aagtgtctac atacagagct caataacaca ctcggaatct tcttgggagg acccacagac
      421 tgtacctata ttacttttga cccaggtgga tgcagtcact ctctagaagc ctccccgact
      481 tcagatgtgt ggcacacatc cacacagggg tgtaggtagg agaagcccac aggaatggct
      541 ctgcagatgt tcgtgactta cagtccttgg aattgtttgc tactgctagt ggctcttgag
      601 tgttctgaag catcttctga tttgaatgaa tctgcaaatt ccactgctca gtatgcatct
      661 aacgcttggt ttgctgctgc cagctcagag ccagaggaag ggatatctgt ttttgaactg
      721 gattatgact atgtgcaaat tccttatgag gtcactctct ggatacttct agcatccctt
      781 gcaaaaatag gcttccacct ctaccacagg ctgccaggcc tcatgccaga aagctgcctc
      841 ctcatcctgg tgggggcgct ggtgggcggc atcatcttcg gcaccgacca caaatcgcct
      901 ccggtcatgg actccagcat ctacttcctg tatctcctgc cacccatcgt tctggagggc
      961 ggctacttca tgcccacccg gcccttcttt gagaacatcg gctccatcct gtggtgggca
     1021 gtattggggg ccctgatcaa cgccttgggc attggcctct ccctctacct catctgccag
     1081 gtgaaggcct ttggcctggg cgacgtcaac ctgctgcaga acctgctgtt cggcagcctg
     1141 atctccgccg tggacccagt ggccgtgcta gccgtgtttg aggaagcgcg cgtgaacgag
     1201 cagctctaca tgatgatctt tggggaggcc ctgctcaatg atggcattac tgtggtctta
     1261 tacaatatgt taattgcctt tacaaagatg cataaatttg aagacataga aactgtcgac
     1321 attttggctg gatgtgcccg attcatcgtt gtggggcttg gaggggtatt gtttggcatc
     1381 gtttttggat ttatttctgc atttatcaca cgtttcactc agaatatctc tgcaattgag
     1441 ccactcatcg tcttcatgtt cagctatttg tcttacttag ctgctgaaac cctctatctc
     1501 tccggcatcc tggcaatcac agcctgcgca gtaacaatga aaaagtacgt ggaagaaaac
     1561 gtgtcccaga catcatacac gaccatcaag tacttcatga agatgctgag cagcgtcagc
     1621 gagaccttga tcttcatctt catgggtgtg tccactgtgg gcaagaatca cgagtggaac
     1681 tgggccttca tctgcttcac cctggccttc tgccaaatct ggagagccat cagcgtattt
     1741 gctctcttct atatcagtaa ccagtttcgg actttcccct tctccatcaa ggaccagtgc
     1801 atcattttct acagtggtgt tcgaggagct ggaagttttt cacttgcatt tttgcttcct
     1861 ctgtctcttt ttcctaggaa gaaaatgttt gtcactgcta ctctagtagt tatatacttt
     1921 actgtattta ttcagggaat cacagttggc cctctggtca ggtacctgga tgttaaaaaa
     1981 accaataaaa aagaatccat caatgaagag cttcatattc gtctgatgga tcacttaaag
     2041 gctggaatcg aagatgtgtg tgggcactgg agtcactacc aagtgagaga caagtttaag
     2101 aagtttgatc atagatactt acggaaaatc ctcatcagaa agaacctacc caaatcaagc
     2161 attgtttctt tgtacaagaa gctggaaatg aagcaagcca tcgagatggt ggagactggg
     2221 atactgagct ctacagcttt ctccataccc catcaggccc agaggataca aggaatcaaa
     2281 agactttccc ctgaagatgt ggagtccata agggacattc tgacatccaa catgtaccaa
     2341 gttcggcaaa ggaccctgtc ctacaacaaa tacaacctca aaccccaaac aagtgagaag
     2401 caggctaaag agattctgat ccgccgccag aacaccttaa gggagagcat gaggaaaggt
     2461 cacagcctgc cctggggaaa gccggctggc accaagaata tccgctacct ctcctacccc
     2521 tacgggaatc ctcagtctgc aggaagagac acaagggctg ctgggttctc agatgatgac
     2581 agcagtgatc caggatcccc atccatcacg ttcagcgcat gctctcggat agggtcactt
     2641 cagaagcaag aggcacaaga aataatacca atgaagagcc tacacagagg aaggaaggca
     2701 ttcagctttg gttatcaaag aaacacaagc caagaagagt acttgggtgg agtaaggagg
     2761 gtggccttaa gacccaaacc tctgtttcat gcagtggatg aggagggtga gtctggaggg
     2821 gagagtgagg gcaaggcctc tttggttgag gttcggtcga ggtggacagc tgaccatgga
     2881 cacggcaggg accatcacag gtcccatagt cctttgctcc aaaaaaaata gtgttattgt
     2941 ccacaagatt gttttggtgt ttctcaagag tctgtcttcc tataactgtg aaaggaggat
     3001 ttctggaatt cagaagagag ctattgagtt tgctgtgttg aagctattaa acatggatct
     3061 ataagcagca ggaagatttt ttccaaggac tgggagcaaa cttgcaggct ctgccatgta
     3121 cttattgtgg ggtaccttta gatgaattcc ctgtgagtga gagaagttga tcaccccagg
     3181 aattagtcac taagaattcc taagaacttt ctatcaaaag cattggatcc aagccatata
     3241 ttgaaataca agcgtgatta atcagtaatt cacattgccg atatgcatat gcaacttata
     3301 atcaaataga actagaagag actttgaagt cacctgactc agccccttgt gtttacagac
     3361 aaggacatgt agtccaaggt tgcatggtga gttcacagtc ggattgtcct ccctccaaac
     3421 tgaaactaat ttgattttga tttcatattc aatatgcaat aattatgttc tatcagagat
     3481 aaaatttgtt atgaatttgc tttatttaat cagtagcaat gatagatgtg atgcatacta
     3541 taggattaat ctgtgaacaa tgggtttacg gtctatttca taattgaaat atttatttta
     3601 aaaatgaata ttagaaacaa aacagccata aacagagttt aatagcaatg atgttaacaa
     3661 caagtattta taaggggtgc atttgtaggg tgtgacattt taccctaggg tataaaacta
     3721 tttttctttt attattatta ttattattat tatactttaa gttttagggt acatgtgcac
     3781 attgtgcagg ttagttacat atgtatacat gtgccatgct ggtgtgctgc acccgctaac
     3841 tcgtcatcta gcattaggtg tatctcccaa tgctatccct cccccctccc cccaccccac
     3901 aacagtcccc agagtgtgat gttccccttc ctgtgtccat gtgatctcat tgttcaattc
     3961 ccacctatga gtgagaatat gcggtgtttg gttttttgtt cttgggatag tttactgaga
     4021 atgatgattt ccaatttcat ccatgtccct acaaaggaca tgaactcatc attttttatg
     4081 gctgcatggt attccatggt gtatatgtgc cacattttct taatccagtc tatcattgtt
     4141 ggacatttgg gttggttcca agtctttgct attgtgaata atgccgcaat aaacatacgt
     4201 gtgcatgtgt cttta
//
LOCUS       NM_001011655            2342 bp    mRNA    linear   PRI 29-MAR-2023
DEFINITION  Homo sapiens transmembrane protein 44 (TMEM44), transcript variant
            2, mRNA.
ACCESSION   NM_001011655
VERSION     NM_001011655.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2342)
  AUTHORS   Moyer BD, Hevezi P, Gao N, Lu M, Kalabat D, Soto H, Echeverri F,
            Laita B, Yeh SA, Zoller M and Zlotnik A.
  TITLE     Expression of genes encoding multi-transmembrane proteins in
            specific primate taste cell populations
  JOURNAL   PLoS One 4 (12), e7682 (2009)
   PUBMED   19997627
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2342)
  AUTHORS   Marroni F, Pfeufer A, Aulchenko YS, Franklin CS, Isaacs A, Pichler
            I, Wild SH, Oostra BA, Wright AF, Campbell H, Witteman JC, Kaab S,
            Hicks AA, Gyllensten U, Rudan I, Meitinger T, Pattaro C, van Duijn
            CM, Wilson JF and Pramstaller PP.
  CONSRTM   EUROSPAN Consortium
  TITLE     A genome-wide association scan of RR and QT interval duration in 3
            European genetically isolated populations: the EUROSPAN project
  JOURNAL   Circ Cardiovasc Genet 2 (4), 322-328 (2009)
   PUBMED   20031603
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX647418.1, BC144159.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000347147.9/ ENSP00000333355.6
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL547748.3, AC046143.20, BC144159.1 and BC034353.1.
            On Jun 2, 2019 this sequence version replaced NM_001011655.2.
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 3' coding region, compared to variant 1, resulting in
            an isoform (b) that is shorter than isoform a.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2342
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q29"
     gene            1..2342
                     /gene="TMEM44"
                     /note="transmembrane protein 44"
                     /db_xref="GeneID:93109"
                     /db_xref="HGNC:HGNC:25120"
     CDS             205..1491
                     /gene="TMEM44"
                     /note="isoform b is encoded by transcript variant 2"
                     /codon_start=1
                     /product="transmembrane protein 44 isoform b"
                     /protein_id="NP_001011655.1"
                     /db_xref="CCDS:CCDS33921.1"
                     /db_xref="GeneID:93109"
                     /db_xref="HGNC:HGNC:25120"
                     /translation="MGEAPSPAPALWDWDYLDRCFARHRVCISFGLWICASSCWIAAHA
                     LLLYLRCAQKPRQDQSALCAACCLLTSLCDTVGALLARQLTIQVFTGAYLAAIDLVNFM
                     FILFPVCGSKFKSNSDREARERKRRRQLRASVFALALPLSLGPCWALWVAVPKASATIR
                     GPQRRLLASLLQENTEILGYLLGSVAAFGSWASRIPPLSRICRGKTFPSIHLWTRLLSA
                     LAGLLYASAIVAHDQHPEYLLRATPWFLTSLGRAALDLAIIFLSCVMKSKMRQALGFAK
                     EARESPDTQALLTCAEKEEENQENLDWVPLTTLSHCKSLRTMTAISRYMELTIEPVQQA
                     GCSATRLPGDGQTSAGDASLQDPPSYPPVQVIRARVSSGSSSEVSSINSDLEWDPEDVN
                     LEGSKENVELLGSQVHQDSVRTAHLSDDD"
     regulatory      2318..2323
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM44"
                     /note="hexamer: AATAAA"
     polyA_site      2342
                     /gene="TMEM44"
                     /note="major polyA site"
ORIGIN
        1 aaacttttcc ccggcgcctt cgccgccgcc gcccgcgccc gggagcgcgc ccttctctgc
       61 ccgcggtcgg tgcgctcggc cggaggcgcc gcggcggaac ggaacccaga gaagggcacg
      121 cggggcggcg gcgctcgggg cttgcccgcg gcgagggagg ctgcgcccag gtccccggcc
      181 ccgcgccgcg cgcccagccg cgccatgggg gaggcgccca gccccgcgcc cgcgctctgg
      241 gactgggact acctggaccg ctgcttcgcc cgccaccgcg tctgcatctc cttcggcctg
      301 tggatctgcg cctcctcctg ctggatcgcc gcccacgcgc tgcttctcta tctgagatgt
      361 gcacagaaac ccagacagga ccagtcggca ctgtgtgctg cgtgctgcct cctgaccagt
      421 ctgtgtgaca ccgtcggggc tcttctggcc agacagctca caatccaggt tttcactggt
      481 gcctacctag cagctattga cttagtgaac tttatgttca ttctcttccc agtctgtgga
      541 tccaaattca agtctaattc agatcgggaa gcccgagaga ggaagaggag gcggcagctc
      601 agggccagtg tgtttgccct ggccctgccg ctgagcctgg gcccgtgctg ggctctgtgg
      661 gttgctgtcc cgaaggcttc agccaccatc cgggggccac agcggaggct gctagcgagc
      721 ctgctgcagg aaaatactga gatcctcggc tacctgctgg gtagcgttgc tgcctttggc
      781 tcctgggctt ctcggatccc ccctctctcc agaatttgcc gggggaagac atttccctcc
      841 atccacctgt ggacccggct cctgtcggcc ctggctggcc tcctctatgc ctcggccatt
      901 gtggcccacg accagcaccc tgagtacctg ctgcgggcca caccctggtt cctgacctcc
      961 ctcggccgtg cggcactgga cctcgctatt attttccttt cgtgtgtgat gaagagcaag
     1021 atgagacagg ccttaggatt tgccaaggaa gccagagaga gccctgacac ccaagccctt
     1081 ttgacctgtg cagagaaaga ggaagaaaac caggagaatt tggattgggt gcctctcacc
     1141 acactgtcac actgcaagtc actgaggaca atgacagcaa tcagtcgcta catggagctg
     1201 accatcgagc ctgtgcagca ggcaggctgc agtgccacca ggctgccagg tgacgggcag
     1261 acgagcgccg gagatgcgtc cctgcaggac cccccgtcgt accctcccgt tcaggtcatc
     1321 cgggcccggg tgtcttccgg cagctcctct gaggtctcct ccatcaactc cgacctggag
     1381 tgggaccctg aagatgtgaa cctcgaaggc agcaaagaaa atgtggagct actgggatcc
     1441 caggtgcacc aggactctgt gaggacagca cacctgagtg atgatgatta acaccttctg
     1501 gagccagctc atcagctcag agcccagggt caggagttcg ttcagtaacg cagcgggaat
     1561 caatctgcac tgacaccgcg gcaggaactg aagctgccct ggcaagtgag gaaccaggag
     1621 ccgtcactga gtgtggctgg gctacatcat agctcatcac ggagctacga ctttgggtac
     1681 tgcggacaga cctggatagg cccagcattc gttctgaaga tcacagttca cagaagcttt
     1741 tgcttcgtaa agataatcca aaggatctca gacccgctct tccttttccc ttcattccct
     1801 tgagagtcag ccatgaacgg aatacctgct aggttccagg aatgagctca cctaacagat
     1861 agcaaatgtg tctggttaga tctcagcaga gcccattctg caagacctgg ctgagccaga
     1921 tgagagggtg ggccctgtgc tggggggcct tgggtcacac acaggaaccg agacctggct
     1981 tccacccccc agtcacccac ttgggttatc tgctggaagt tatcgatagg actgtgtggc
     2041 caaccaagtg cttgtgagat cactgacact gcaaaaacaa agcaaactgc tccgggtacc
     2101 aggacttcct ccaacctggc aagggtgtgc gctgaggcgg ggcttgcagg tgagggggct
     2161 gtatgcttca ggaactaact aaatgcatgc agaaggtaag aggcatgatg ggaggtgttc
     2221 aagcacagca atcccatttg ggagttattt tgatactgcg atgagtaagg gtaagggcgc
     2281 atggaatggg gctaaggtgg gagtgaacac tggggtgaat aaattttaaa tcaattcaag
     2341 ta
//
LOCUS       NM_001011658            2842 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens trafficking protein particle complex subunit 2
            (TRAPPC2), transcript variant 1, mRNA.
ACCESSION   NM_001011658
VERSION     NM_001011658.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2842)
  AUTHORS   Won JY, Kim D, Park SY, Lee HR, Lim JS, Park JH, Song MH, Song HR,
            Kim OH, Kim Y and Cho TJ.
  TITLE     Novel loss-of-function variants of TRAPPC2 manifesting X-linked
            spondyloepiphyseal dysplasia tarda: report of two cases
  JOURNAL   BMC Med Genet 20 (1), 70 (2019)
   PUBMED   31053099
  REMARK    GeneRIF: Novel loss-of-function variants of TRAPPC2 manifesting
            X-linked spondyloepiphyseal dysplasia tarda: report of two cases
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2842)
  AUTHORS   Kim JJ, Lipatova Z and Segev N.
  TITLE     TRAPP Complexes in Secretion and Autophagy
  JOURNAL   Front Cell Dev Biol 4, 20 (2016)
   PUBMED   27066478
  REMARK    Review article Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2842)
  AUTHORS   Wu X, Deng K, Wang C, Li G, Lin J, Wang R, Wu H and Huang S.
  TITLE     [Mutation analysis of the TRAPPC2 gene in a Chinese family with
            X-linked spondyloepiphyseal dysplasia tarda]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 32 (4), 476-480 (2015)
   PUBMED   26252088
  REMARK    GeneRIF: c.93+5G>A mutation in the TRAPPC2 gene is associated with
            X-linked spondyloepiphyseal dysplasia in a Chinese family.
REFERENCE   4  (bases 1 to 2842)
  AUTHORS   Milev MP, Hasaj B, Saint-Dic D, Snounou S, Zhao Q and Sacher M.
  TITLE     TRAMM/TrappC12 plays a role in chromosome congression, kinetochore
            stability, and CENP-E recruitment
  JOURNAL   J Cell Biol 209 (2), 221-234 (2015)
   PUBMED   25918224
REFERENCE   5  (bases 1 to 2842)
  AUTHORS   Li J, Chai X, Lu L, Zhu J, Du X and Zhao L.
  TITLE     [Analysis of SEDL gene mutation in a Chinese pedigree with X-linked
            spondyloepiphyseal dysplasia tarda]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 31 (5), 604-607 (2014)
   PUBMED   25297591
  REMARK    GeneRIF: Data suggest that c.267_271delAAGAC frameshift mutation of
            the exon 5 of the spondyloepiphyseal dysplasia, late protein (SEDL)
            gene probably underlies the disease in the family.
REFERENCE   6  (bases 1 to 2842)
  AUTHORS   Gecz J, Hillman MA, Gedeon AK, Cox TC, Baker E and Mulley JC.
  TITLE     Gene structure and expression study of the SEDL gene for
            spondyloepiphyseal dysplasia tarda
  JOURNAL   Genomics 69 (2), 242-251 (2000)
   PUBMED   11031107
REFERENCE   7  (bases 1 to 2842)
  AUTHORS   Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D,
            Tiller GE, Mulley JC and Gecz J.
  TITLE     Identification of the gene (SEDL) causing X-linked
            spondyloepiphyseal dysplasia tarda
  JOURNAL   Nat Genet 22 (4), 400-404 (1999)
   PUBMED   10431248
REFERENCE   8  (bases 1 to 2842)
  AUTHORS   Bernard LE, Chitayat D, Weksberg R, Van Allen MI and Langlois S.
  TITLE     Linkage analysis of two Canadian families segregating for X linked
            spondyloepiphyseal dysplasia
  JOURNAL   J Med Genet 33 (5), 432-434 (1996)
   PUBMED   8733060
REFERENCE   9  (bases 1 to 2842)
  AUTHORS   Adams MD, Soares MB, Kerlavage AR, Fields C and Venter JC.
  TITLE     Rapid cDNA sequencing (expressed sequence tags) from a directionally
            cloned human infant brain cDNA library
  JOURNAL   Nat Genet 4 (4), 373-380 (1993)
   PUBMED   8401585
REFERENCE   10  (bases 1 to 2842)
  AUTHORS   Tiller,G.E.
  TITLE     X-Linked Spondyloepiphyseal Dysplasia Tarda
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301324
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.338880.1,
            SRR1660809.193340.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467148
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380579.6/ ENSP00000369953.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA344866.1, AK313736.1,
            AC003037.1 and AA770629.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001011658.3.
            Summary: The protein encoded by this gene is thought to be part of
            a large multi-subunit complex involved in the targeting and fusion
            of endoplasmic reticulum-to-Golgi transport vesicles with their
            acceptor compartment. In addition, the encoded protein can bind
            c-myc promoter-binding protein 1 and block its transcriptional
            repression capability. Mutations in this gene are a cause of
            spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene
            of this gene is located on chromosome 19, and other pseudogenes are
            found on chromosomes 8 and Y. Alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, Mar
            2010].
            Transcript Variant: This variant (1) encodes the shorter isoform
            (1). Variants 1 and 2 encode the same isoform.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2842
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..2842
                     /gene="TRAPPC2"
                     /gene_synonym="hYP38334; MIP2A; SEDL; SEDT; TRAPPC2P1;
                     TRS20; ZNF547L"
                     /note="trafficking protein particle complex subunit 2"
                     /db_xref="GeneID:6399"
                     /db_xref="HGNC:HGNC:23068"
                     /db_xref="MIM:300202"
     misc_feature    234..236
                     /gene="TRAPPC2"
                     /gene_synonym="hYP38334; MIP2A; SEDL; SEDT; TRAPPC2P1;
                     TRS20; ZNF547L"
                     /note="upstream in-frame stop codon"
     CDS             258..680
                     /gene="TRAPPC2"
                     /gene_synonym="hYP38334; MIP2A; SEDL; SEDT; TRAPPC2P1;
                     TRS20; ZNF547L"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sedlin; trafficking protein particle complex 2"
                     /codon_start=1
                     /product="trafficking protein particle complex subunit 2
                     isoform 1"
                     /protein_id="NP_001011658.1"
                     /db_xref="CCDS:CCDS48082.1"
                     /db_xref="GeneID:6399"
                     /db_xref="HGNC:HGNC:23068"
                     /db_xref="MIM:300202"
                     /translation="MSGSFYFVIVGHHDNPVFEMEFLPAGKAESKDDHRHLNQFIAHAA
                     LDLVDENMWLSNNMYLKTVDKFNEWFVSAFVTAGHMRFIMLHDIRQEDGIKNFFTDVYD
                     LYIKFSMNPFYEPNSPIRSSAFDRKVQFLGKKHLLS"
     misc_feature    612..614
                     /gene="TRAPPC2"
                     /gene_synonym="hYP38334; MIP2A; SEDL; SEDT; TRAPPC2P1;
                     TRS20; ZNF547L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P0DI81.1); phosphorylation site"
     regulatory      2824..2829
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRAPPC2"
                     /gene_synonym="hYP38334; MIP2A; SEDL; SEDT; TRAPPC2P1;
                     TRS20; ZNF547L"
                     /note="hexamer: AATAAA"
     polyA_site      2842
                     /gene="TRAPPC2"
                     /gene_synonym="hYP38334; MIP2A; SEDL; SEDT; TRAPPC2P1;
                     TRS20; ZNF547L"
                     /note="major polyA site"
ORIGIN
        1 gcgagaactg cttcggcgtt ctggctacag gttcggggcg cgggtctctt ccgcggaaac
       61 tgacattgcg tttccgttgt cggcctccca ctgcagtatc accttctccc ccaagtgtga
      121 caaccaaaga tgtctccaga tattgccaga tgtcctcttg gaagcaagat cgctccgggt
      181 tgagatccac agagctaaac gttttagagt accaaccatt gtgtgctgtg aggtaaagga
      241 gccatatatt gaagaccatg tctgggagct tctactttgt aattgttggc caccatgata
      301 atccagtttt tgaaatggag tttttgccag ctgggaaggc agaatccaaa gacgaccatc
      361 gtcatctgaa ccagttcata gctcatgctg ctctcgacct cgtagatgag aacatgtggc
      421 tatcgaacaa catgtacttg aaaactgtgg acaagttcaa cgagtggttt gtgtcggcat
      481 ttgtcactgc ggggcatatg aggtttatta tgcttcatga cataagacaa gaagatggaa
      541 taaagaactt ctttactgat gtttatgatt tatatataaa gttttcaatg aatccatttt
      601 atgaacccaa ttctcctatt cgatcaagtg catttgacag aaaagttcag tttcttggga
      661 agaaacacct tttaagctga atgcagaaaa ttccaaaata aatgatgtca ccacaatggt
      721 gtatactcag gaatgtgtac attgtaagtt acttgattaa atagcctgga aaacttttgt
      781 gtattctcag cttatctaaa cctaatgaaa ttccttttat atttaaaaat agtacattct
      841 gtctcatgtc acgtatcaat agatcaattg gtatttcctt gtgaacagtg ttatttataa
      901 agagttcatt atcaataatc atgttttttt tttttttttt tttctgatac agagtctcac
      961 tctgttgcca ggctggagtg cagtggcgca atcttggctc actgcaacct ccgcctccca
     1021 ggttcaggcg attctcctgc ctcagcctcc aagtagctgg gactacaggc gcgtgccacc
     1081 acgcccggct aatttttgta tttttagtag agacagggtt tcaccatatt ggtcaggctg
     1141 gtcttgaact cctgacctcg tgatctgccc gccttggcct cccaaagtac tgggattaca
     1201 ggcgtgagcc accgtgccca accatgaaat atttttactt aaaaattggg aataagctcg
     1261 cttttttttt ttttgagatg gagtcttgct cctgttgtgc aggctgtagt gcagtggcac
     1321 gatcttggct cactgcaacc tccacctccc gggttcaagc aattctcctt cttcagcctc
     1381 ccgagtagct gagattatag gcgtgcacca ccacacctgg ctaatttttg tatttttagt
     1441 agagacaggg tttcaccata ttggtcaggc tggtcttgaa ctcctgacct cgtgatccac
     1501 ccacctcagg aagtgctggg attacaggcg tgtgagccac cacgcccggc catgaaatat
     1561 ttttacttaa aaattgggaa taagcttttt ggttttttgt gggtttttgt ttttgttttt
     1621 tgttttttgt ttttttgaga tggagtcttg ctcctgttgt gcaggctgga gtgcagtggc
     1681 acagtcttgg ctcactgcaa cctccacctc ctgggttcaa gcaattctcc ttcttcagcc
     1741 tcccgagtag ctgggattac aggcatgcac caccacacct ggctaatttt tgtgttttta
     1801 gtagagacgg ggtttcgcta ttttggccgg gctggtttca aactcctgac ctcagttgat
     1861 ccacccgcct cagcctccca aagtgctagg attacaggca tgaaccaccg tgcccggcca
     1921 ggaataagct tttgacttac ccaattcaga taggttgatc tttggggttt tttttttttt
     1981 tttgagatgg agtttcgctc tgttgtccag gctggagtgc aatggcagtt gtttcaccgt
     2041 aacctctgcc tcctgacttc aagcaattct cctgcctcag cctcccaaag tgctgggatt
     2101 acaggtgtga gccaccgtgc ccggcccaga taggttgatc ttaatgtaac aacccaaaaa
     2161 taaatgtcat agtcaagatt tggtagataa atttaaaatt aaaatattct gcagttggga
     2221 gtgaaatgtg atagcacata cgttgacatt atgcatttag agatgttata aaaatgtata
     2281 ggcagtatac acagcactac tcaagaagcc aaagaaacac ttgtgcagtg ctaagtgtca
     2341 catgtctgct tccaccagag gctaggaata gtgatcctgc tataatgtga gaacccaaat
     2401 catgtttata aaataggacg ctgggagcag ttgcaggcca cagtgaagtg tgttgcttct
     2461 gtcactttat attcttatat ttcctttccc tcagacagta aactgttgat actcgtactt
     2521 gtaaaaaatt gtaaggcaat ttttagtatt gttgtcaaag aaaagcttgg attacattaa
     2581 catttgtatt cagtctttta ggtgatacac cagagggggc tgggaattgt ctctttgttc
     2641 ctataagtag atcttaatgt aaaatagtaa atgtccattg aaaagcaagt aatacagcct
     2701 gtgctaattg ggagcacttg aacaattttg ttccattctg agtaactttt gagcaagtaa
     2761 ttctaagctt tgtcttgtat ccttgtgtga aattgcataa tttttaccct atttgatttc
     2821 ttaaataaag atgtttgctc aa
//
LOCUS       NM_001011663            2236 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens polycomb group ring finger 6 (PCGF6), transcript
            variant 1, mRNA.
ACCESSION   NM_001011663
VERSION     NM_001011663.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2236)
  AUTHORS   Lan X, Ding S, Zhang T, Yi Y, Li C, Jin W, Chen J, Liang K, Wang H
            and Jiang W.
  TITLE     PCGF6 controls neuroectoderm specification of human pluripotent stem
            cells by activating SOX2 expression
  JOURNAL   Nat Commun 13 (1), 4601 (2022)
   PUBMED   35933409
  REMARK    GeneRIF: PCGF6 controls neuroectoderm specification of human
            pluripotent stem cells by activating SOX2 expression. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 2236)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (bases 1 to 2236)
  AUTHORS   Hauri S, Comoglio F, Seimiya M, Gerstung M, Glatter T, Hansen K,
            Aebersold R, Paro R, Gstaiger M and Beisel C.
  TITLE     A High-Density Map for Navigating the Human Polycomb Complexome
  JOURNAL   Cell Rep 17 (2), 583-595 (2016)
   PUBMED   27705803
REFERENCE   4  (bases 1 to 2236)
  AUTHORS   Yang CS, Chang KY, Dang J and Rana TM.
  TITLE     Polycomb Group Protein Pcgf6 Acts as a Master Regulator to Maintain
            Embryonic Stem Cell Identity
  JOURNAL   Sci Rep 6, 26899 (2016)
   PUBMED   27247273
  REMARK    GeneRIF: Pcgf6 acts as a master regulator to maintain embryonic stem
            cell identity. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2236)
  AUTHORS   Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA,
            Weisswange I, Mansfeld J, Buchholz F, Hyman AA and Mann M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   6  (bases 1 to 2236)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage
            AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G,
            Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T,
            Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S,
            Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T,
            Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N,
            Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall
            M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL,
            Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm
            L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   7  (bases 1 to 2236)
  AUTHORS   Suzuki M, Mizutani-Koseki Y, Fujimura Y, Miyagishima H, Kaneko T,
            Takada Y, Akasaka T, Tanzawa H, Takihara Y, Nakano M, Masumoto H,
            Vidal M, Isono K and Koseki H.
  TITLE     Involvement of the Polycomb-group gene Ring1B in the specification
            of the anterior-posterior axis in mice
  JOURNAL   Development 129 (18), 4171-4183 (2002)
   PUBMED   12183370
REFERENCE   8  (bases 1 to 2236)
  AUTHORS   Akasaka T, Takahashi N, Suzuki M, Koseki H, Bodmer R and Koga H.
  TITLE     MBLR, a new RING finger protein resembling mammalian Polycomb gene
            products, is regulated by cell cycle-dependent phosphorylation
  JOURNAL   Genes Cells 7 (8), 835-850 (2002)
   PUBMED   12167161
  REMARK    GeneRIF: regulation by cell cycle-dependent phosphorylation
REFERENCE   9  (bases 1 to 2236)
  AUTHORS   Trimarchi JM, Fairchild B, Wen J and Lees JA.
  TITLE     The E2F6 transcription factor is a component of the mammalian
            Bmi1-containing polycomb complex
  JOURNAL   Proc Natl Acad Sci U S A 98 (4), 1519-1524 (2001)
   PUBMED   11171983
REFERENCE   10  (bases 1 to 2236)
  AUTHORS   Kanno M, Hasegawa M, Ishida A, Isono K and Taniguchi M.
  TITLE     mel-18, a Polycomb group-related mammalian gene, encodes a
            transcriptional negative regulator with tumor suppressive activity
  JOURNAL   EMBO J 14 (22), 5672-5678 (1995)
   PUBMED   8521824
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC010235.1, SRR1660809.187491.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369847.4/ ENSP00000358862.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL591408.19, BC010235.1 and
            BC007602.1.
            On Nov 22, 2018 this sequence version replaced NM_001011663.1.
            Summary: The protein encoded by this gene contains a RING finger
            motif, which is most closely related to those of polycomb group
            (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to
            form protein complexes and function as transcription repressors.
            This protein has been shown to interact with some PcG proteins and
            act as a transcription repressor. The activity of this protein is
            found to be regulated by cell cycle dependent phosphorylation.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript, and   encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2236
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.33"
     gene            1..2236
                     /gene="PCGF6"
                     /gene_synonym="MBLR; RNF134"
                     /note="polycomb group ring finger 6"
                     /db_xref="GeneID:84108"
                     /db_xref="HGNC:HGNC:21156"
                     /db_xref="MIM:607816"
     CDS             75..1127
                     /gene="PCGF6"
                     /gene_synonym="MBLR; RNF134"
                     /note="isoform a is encoded by transcript variant 1; ring
                     finger protein 134; Mel18 and Bmi1-like RING finger
                     protein; polycomb group RING finger protein 6"
                     /codon_start=1
                     /product="polycomb group RING finger protein 6 isoform a"
                     /protein_id="NP_001011663.1"
                     /db_xref="CCDS:CCDS31275.1"
                     /db_xref="GeneID:84108"
                     /db_xref="HGNC:HGNC:21156"
                     /db_xref="MIM:607816"
                     /translation="MEGVAVVTAGSVGAAKTEGAAALPPPPPVSPPALTPAPAAGEEGP
                     APLSETGAPGCSGSRPPELEPERSLGRFRGRFEDEDEELEEEEELEEEEEEEEEDMSHF
                     SLRLEGGRQDSEDEEERLINLSELTPYILCSICKGYLIDATTITECLHTFCKSCIVRHF
                     YYSNRCPKCNIVVHQTQPLYNIRLDRQLQDIVYKLVINLEEREKKQMHDFYKERGLEVP
                     KPAVPQPVPSSKGRSKKVLESVFRIPPELDMSLLLEFIGANEGTGHFKPLEKKFVRVSG
                     EATIGHVEKFLRRKMGLDPACQVDIICGDHLLEQYQTLREIRRAIGDAAMQDGLLVLHY
                     GLVVSPLKIT"
     misc_feature    75..419
                     /gene="PCGF6"
                     /gene_synonym="MBLR; RNF134"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYE7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    162..164
                     /gene="PCGF6"
                     /gene_synonym="MBLR; RNF134"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:12167161; propagated from
                     UniProtKB/Swiss-Prot (Q9BYE7.2); phosphorylation site"
     misc_feature    417..419
                     /gene="PCGF6"
                     /gene_synonym="MBLR; RNF134"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BYE7.2); phosphorylation site"
     regulatory      2215..2220
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCGF6"
                     /gene_synonym="MBLR; RNF134"
                     /note="hexamer: AATAAA"
     polyA_site      2236
                     /gene="PCGF6"
                     /gene_synonym="MBLR; RNF134"
                     /note="major polyA site"
ORIGIN
        1 agtggtggcg tccgaggccg gccgaactcc cgcgctctcc cgccgcctcg cctcgcctgg
       61 tgtctctccc gaccatggag ggggtcgcgg tggtgacggc gggcagcgta ggcgctgcca
      121 aaaccgaggg agctgcagcc ttgccgcctc cgcctcctgt ctccccgccc gccctcaccc
      181 ctgcacccgc agcgggtgag gagggaccgg cgcctctgtc tgagacgggg gctcccggct
      241 gctccggctc ccggccccct gagctggagc cggagcgcag cctgggccgc ttcagaggcc
      301 gcttcgagga cgaggacgag gagttggaag aagaagagga gctggaggag gaagaagagg
      361 aggaggagga ggacatgagt cacttctcgt tgaggctgga gggaggccgg caggactcgg
      421 aggacgagga ggagcgcctg attaatctct ctgagctgac cccatacatc ttgtgttcca
      481 tttgcaaagg ttacttaata gatgcaacta ccatcacaga atgtcttcat accttttgta
      541 aaagctgcat cgtaagacat ttttactaca gcaacagatg tccaaaatgc aatatagtag
      601 tacatcagac acaacctctt tataacataa ggttggaccg acagttacaa gacatagtgt
      661 acaaattagt gatcaatcta gaggaaagag aaaaaaagca aatgcatgat ttctataaag
      721 aaagaggtct agaagtacct aaacctgctg ttccacagcc agtcccttca agcaaaggaa
      781 gatctaaaaa agtcctagaa tcagtgtttc gtattccacc tgaacttgat atgtctttat
      841 tactggagtt cattggtgct aatgaaggca cgggacattt taagccattg gaaaagaagt
      901 ttgttcgagt ttcaggagaa gcaactattg gacatgtaga aaaattcctc agaagaaaaa
      961 tgggtcttga tccagcttgt caggtagata taatctgtgg tgatcacctg ttggagcagt
     1021 atcaaactct aagggaaatc cgacgtgcaa taggtgatgc agcaatgcag gatggtctgc
     1081 ttgtccttca ttatggtctt gtggtttctc ctctgaagat aacttgaaga ttctaggcac
     1141 attatgagga gggaaacaaa ggaggcttct gcaggactgc atctcaccaa agatttccat
     1201 gaaatgtaat tgctaccact ttgctgttca agacataact tacctatttt tagcaccaag
     1261 aattatagcg tttataagta caacttggaa cgatggaatg catctgttac tagagactgt
     1321 atataaaaag cagccaaagc tcaggggaaa tttttcaaaa attgaatttt aaaatttctt
     1381 atgattttaa ataccttgac attgattttg cttcccatct ttgaagtaat tggttagttt
     1441 tctttgttca gccatttcaa gttggtggtt gggatatctg ctctctggga tggcatcagt
     1501 tgggcagtca tctttttgga agagaagtgt gcttttgagt ggaagattca aagccagtct
     1561 ttgttaaact gcagggtgta ctctcaaaga ccaaaactat tggccacttt tgtatgttgc
     1621 cagcatattt tgaacttgta ccttttttta tactagcaac actacaaagg agaagttact
     1681 catttcaaaa tggatgaatt gttattatgt gtgaagagac tctgagttta tgatctgtgc
     1741 cataaaattt cagtgtaata agacttcttc aatacatctt ccaataaggg gtgcttcttt
     1801 gtgacagtat ttttatttct gacattcatt ttatttgggt acatagtgtg gttgttgata
     1861 ccttgcaata gtattgcttc tgaaagtaat aaaaaatttt aggagaattt gagaagttta
     1921 cagaattact tattcattgt tttcttagta agtcagttta atgtttattt ttctcattat
     1981 ttcatcactg caataaagaa taagggtgtt tgagctcacc tccatgcaaa gacttcagtt
     2041 ttaaaacatt atttgcctaa aattagcatt gtgatgcttt ctgaaagaaa tattttataa
     2101 atcctgttta acagcagaat ttctgaatgt gtagagacta ctacaaaatt ggaaaaagat
     2161 tggcaattct ttgtaaagaa tttgtgaatt gtgtataaat ttattctaac atttaataaa
     2221 aatgtatttt aaccta
//
LOCUS       NM_001011671            1697 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 7
            (CHCHD7), transcript variant 6, mRNA.
ACCESSION   NM_001011671
VERSION     NM_001011671.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1697)
  AUTHORS   He M, Xu M, Zhang B, Liang J, Chen P, Lee JY, Johnson TA, Li H, Yang
            X, Dai J, Liang L, Gui L, Qi Q, Huang J, Li Y, Adair LS, Aung T, Cai
            Q, Cheng CY, Cho MC, Cho YS, Chu M, Cui B, Gao YT, Go MJ, Gu D, Gu
            W, Guo H, Hao Y, Hong J, Hu Z, Hu Y, Huang J, Hwang JY, Ikram MK,
            Jin G, Kang DH, Khor CC, Kim BJ, Kim HT, Kubo M, Lee J, Lee J, Lee
            NR, Li R, Li J, Liu J, Longe J, Lu W, Lu X, Miao X, Okada Y, Ong RT,
            Qiu G, Seielstad M, Sim X, Song H, Takeuchi F, Tanaka T, Taylor PR,
            Wang L, Wang W, Wang Y, Wu C, Wu Y, Xiang YB, Yamamoto K, Yang H,
            Liao M, Yokota M, Young T, Zhang X, Kato N, Wang QK, Zheng W, Hu FB,
            Lin D, Shen H, Teo YY, Mo Z, Wong TY, Lin X, Mohlke KL, Ning G,
            Tsunoda T, Han BG, Shu XO, Tai ES, Wu T and Qi L.
  TITLE     Meta-analysis of genome-wide association studies of adult height in
            East Asians identifies 17 novel loci
  JOURNAL   Hum Mol Genet 24 (6), 1791-1800 (2015)
   PUBMED   25429064
REFERENCE   2  (bases 1 to 1697)
  AUTHORS   Banci L, Bertini I, Ciofi-Baffoni S, Jaiswal D, Neri S, Peruzzini R
            and Winkelmann J.
  TITLE     Structural characterization of CHCHD5 and CHCHD7: two atypical human
            twin CX9C proteins
  JOURNAL   J Struct Biol 180 (1), 190-200 (2012)
   PUBMED   22842048
  REMARK    GeneRIF: Molecular interactions guiding the protein recognition
            between Mia40 and the disulfide-reduced CHCHD5 and CHCHD7.
REFERENCE   3  (bases 1 to 1697)
  AUTHORS   Cavallaro G.
  TITLE     Genome-wide analysis of eukaryotic twin CX9C proteins
  JOURNAL   Mol Biosyst 6 (12), 2459-2470 (2010)
   PUBMED   20922212
REFERENCE   4  (bases 1 to 1697)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer
            JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1697)
  AUTHORS   Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM,
            Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML,
            Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI,
            Hakonarson H and Grant SF.
  TITLE     The role of height-associated loci identified in genome wide
            association studies in the determination of pediatric stature
  JOURNAL   BMC Med Genet 11, 96 (2010)
   PUBMED   20546612
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1697)
  AUTHORS   Sovio U, Bennett AJ, Millwood IY, Molitor J, O'Reilly PF, Timpson
            NJ, Kaakinen M, Laitinen J, Haukka J, Pillas D, Tzoulaki I, Molitor
            J, Hoggart C, Coin LJ, Whittaker J, Pouta A, Hartikainen AL, Freimer
            NB, Widen E, Peltonen L, Elliott P, McCarthy MI and Jarvelin MR.
  TITLE     Genetic determinants of height growth assessed longitudinally from
            infancy to adulthood in the northern Finland birth cohort 1966
  JOURNAL   PLoS Genet 5 (3), e1000409 (2009)
   PUBMED   19266077
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1697)
  AUTHORS   Gudbjartsson DF, Walters GB, Thorleifsson G, Stefansson H,
            Halldorsson BV, Zusmanovich P, Sulem P, Thorlacius S, Gylfason A,
            Steinberg S, Helgadottir A, Ingason A, Steinthorsdottir V,
            Olafsdottir EJ, Olafsdottir GH, Jonsson T, Borch-Johnsen K, Hansen
            T, Andersen G, Jorgensen T, Pedersen O, Aben KK, Witjes JA, Swinkels
            DW, den Heijer M, Franke B, Verbeek AL, Becker DM, Yanek LR, Becker
            LC, Tryggvadottir L, Rafnar T, Gulcher J, Kiemeney LA, Kong A,
            Thorsteinsdottir U and Stefansson K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat Genet 40 (5), 609-615 (2008)
   PUBMED   18391951
REFERENCE   8  (bases 1 to 1697)
  AUTHORS   Lettre G, Jackson AU, Gieger C, Schumacher FR, Berndt SI, Sanna S,
            Eyheramendy S, Voight BF, Butler JL, Guiducci C, Illig T, Hackett R,
            Heid IM, Jacobs KB, Lyssenko V, Uda M, Boehnke M, Chanock SJ, Groop
            LC, Hu FB, Isomaa B, Kraft P, Peltonen L, Salomaa V, Schlessinger D,
            Hunter DJ, Hayes RB, Abecasis GR, Wichmann HE, Mohlke KL and
            Hirschhorn JN.
  CONSRTM   Diabetes Genetics Initiative; FUSION; KORA; Prostate, Lung
            Colorectal and Ovarian Cancer Screening Trial; Nurses' Health Study;
            SardiNIA
  TITLE     Identification of ten loci associated with height highlights new
            biological pathways in human growth
  JOURNAL   Nat Genet 40 (5), 584-591 (2008)
   PUBMED   18391950
REFERENCE   9  (bases 1 to 1697)
  AUTHORS   Asp J, Persson F, Kost-Alimova M and Stenman G.
  TITLE     CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic,
            intrachromosomal 8q rearrangements in pleomorphic salivary gland
            adenomas
  JOURNAL   Genes Chromosomes Cancer 45 (9), 820-828 (2006)
   PUBMED   16736500
  REMARK    GeneRIF: CHCHD7 is a newly identified member of a ubiquitously
            expressed multifamily of proteins containing a conserved (coiled
            coil 1)-(helix 1)-(coiled coil 2)-(helix 2) domain; it has not been
            previously associated with neoplasia.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK095922.1, SRR1803617.56390.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000355315.8/ ENSP00000347469.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX473986.1, BC002546.2, AK095922.1 and AC107952.5.
            On May 17, 2019 this sequence version replaced NM_001011671.2.
            Transcript Variant: This variant (6) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and uses a downstream translation
            start site compared to variant 2. The encoded isoform (f) has a
            shorter N-terminus compared to variant 2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1697
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.1"
     gene            1..1697
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /note="coiled-coil-helix-coiled-coil-helix domain
                     containing 7"
                     /db_xref="GeneID:79145"
                     /db_xref="HGNC:HGNC:28314"
                     /db_xref="MIM:611238"
     CDS             66..323
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /note="isoform f is encoded by transcript variant 6;
                     coiled-coil-helix-coiled-coil-helix domain-containing
                     protein 7; COX23 cytochrome c oxidase assembly homolog"
                     /codon_start=1
                     /product="coiled-coil-helix-coiled-coil-helix
                     domain-containing protein 7 isoform f"
                     /protein_id="NP_001011671.1"
                     /db_xref="CCDS:CCDS34896.1"
                     /db_xref="GeneID:79145"
                     /db_xref="HGNC:HGNC:28314"
                     /db_xref="MIM:611238"
                     /translation="MPSVTQRLRDPDINPCLSESDASTRCLDENNYDRERCSTYFLRYK
                     NCRRFWNSIVMQRRKNGVKPFMPTAAERDEILRAVGNMPY"
     misc_feature    111..143
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BUK0.1);
                     Region: Cx9C motif 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01150"
     misc_feature    174..206
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BUK0.1);
                     Region: Cx9C motif 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01150"
     regulatory      332..337
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /note="hexamer: ATTAAA"
     polyA_site      354
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
     regulatory      1490..1495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /note="hexamer: AATGAA"
     polyA_site      1507
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /note="major polyA site"
     regulatory      1545..1550
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
                     /note="hexamer: ATTAAA"
     polyA_site      1567
                     /gene="CHCHD7"
                     /gene_synonym="COX23"
ORIGIN
        1 gtgtttggag ctggagacgg cctgggtgct ggcgaagcgg aggccggagt aagaagactg
       61 ttagaatgcc ctcggtaaca cagaggctga gagatcctga cataaatcct tgtttgtcgg
      121 aatctgatgc ttccaccaga tgtctggatg aaaataacta tgacagggaa aggtgttcca
      181 cttacttctt gaggtacaaa aactgccgga gattctggaa ttctatcgtg atgcagagaa
      241 gaaagaacgg agtgaagcca tttatgccta cggcagcaga aagagatgaa atcttgagag
      301 cagtgggaaa tatgccctat tgaatgtttg cattaaaagt gtttatataa cttagaagca
      361 gatgaatatt tctaataaat gattgctgta atatttaaga ctgtacaccc ctcacccaga
      421 cagaccttaa gttcttcaag tggagacagt gaagtcaccc cgtgtccttt ttgcttgctc
      481 tcagtgccat gccgatggta tgttgctgtt ggctgtgttg tggcatgagt ttgcatgact
      541 ttctggaggc atggagttag gtaaggctac atgagaaatt gagcttttcc actgggtttt
      601 gaaagaagag tatgatgtga acaagtaaag actgaatggg gctgagatga aggcaatgtt
      661 tccaaggaaa ggaaatgtta tgagcaagag tgtgaggcaa gagaagctgg aaccacattc
      721 agagagtatc ctgtagattg ctccacctag aatctcaggt gggtggagca gtggtgggag
      781 aagactggaa aggtaagttg aaggtaagga atgtgtggtg ggcctcagat cccaggctca
      841 ttcctcaaat cacttcttac ttccctcact tatctttgtt taaataaggt tagtacattc
      901 actaggggca aatgggtttt tctaaataaa tgacataaaa aagaactggt tgtctttctt
      961 taaagaaagt cttagttaca ggattctgtg attaaaatcc ttaaatattg ggttgccttc
     1021 tgcagctgta gtatcagttt ttgaaccaca gtaatgggaa gaaagacaaa tggattccct
     1081 tagaagtaag atttctattt gcaggatgag ttgggcaggg aaaagggtca gggttcatca
     1141 ggtgaactca acactgggat gagactagaa cttcacttta tgatataaac acaatacgat
     1201 tattcaatgt ggtgactggg gtagactgtg aagcagccct ccttatgccc actgcctttt
     1261 agaatcgttt gttttattca tggtagtttt atgaagacat actattattg aatgaaattt
     1321 aatgtgtact tgaaaacatt gcttttgtcc cttctcttca tctggtcttg ggtcaagaac
     1381 attgttttaa tggctgccga caatgaactg tctgtctgag tctaaaacca agctcaggtt
     1441 tctaagccac atgaccttga ttgttaaatg tagttatatt tgaataaaaa atgaatcatt
     1501 tccaaaattc ttttgatttg tattgactgc tataaaaatg atggattaaa ataggaccag
     1561 aaaagaatga atgcctacct gtgtaagaag tatttttgta tttttaagca cacttgttaa
     1621 agggcttgga attttaatgt cactcctttg aaggtacata ccaatatcaa cattcatctt
     1681 gtaactagtt gtcctga
//
LOCUS       NM_001011700             710 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens mitochondrial coiled-coil domain 1 (MCCD1), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_001011700
VERSION     NM_001011700.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 710)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 710)
  AUTHORS   Tan JH, Price P, Gut I, Stacey MC, Warrington NM and Wallace HJ.
  TITLE     Characterization of tumor necrosis factor-alpha block haplotypes
            associated with susceptibility to chronic venous leg ulcers in
            Caucasian patients
  JOURNAL   Hum Immunol 71 (12), 1214-1219 (2010)
   PUBMED   20854863
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 710)
  AUTHORS   Barcellos LF, May SL, Ramsay PP, Quach HL, Lane JA, Nititham J,
            Noble JA, Taylor KE, Quach DL, Chung SA, Kelly JA, Moser KL, Behrens
            TW, Seldin MF, Thomson G, Harley JB, Gaffney PM and Criswell LA.
  TITLE     High-density SNP screening of the major histocompatibility complex
            in systemic lupus erythematosus demonstrates strong evidence for
            independent susceptibility regions
  JOURNAL   PLoS Genet 5 (10), e1000696 (2009)
   PUBMED   19851445
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 710)
  AUTHORS   Limou S, Le Clerc S, Coulonges C, Carpentier W, Dina C, Delaneau O,
            Labib T, Taing L, Sladek R, Deveau C, Ratsimandresy R, Montes M,
            Spadoni JL, Lelievre JD, Levy Y, Therwath A, Schachter F, Matsuda F,
            Gut I, Froguel P, Delfraissy JF, Hercberg S and Zagury JF.
  CONSRTM   ANRS Genomic Group
  TITLE     Genomewide association study of an AIDS-nonprogression cohort
            emphasizes the role played by HLA genes (ANRS Genomewide Association
            Study 02)
  JOURNAL   J Infect Dis 199 (3), 419-426 (2009)
   PUBMED   19115949
REFERENCE   5  (bases 1 to 710)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   6  (bases 1 to 710)
  AUTHORS   Semple JI, Ribas G, Hillyard G, Brown SE, Sanderson CM and Campbell
            RD.
  TITLE     A novel gene encoding a coiled-coil mitochondrial protein located at
            the telomeric end of the human MHC Class III region
  JOURNAL   Gene 314, 41-54 (2003)
   PUBMED   14527716
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BN000141.1, BC132994.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2145774 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 14527716
            MANE Ensembl match :: ENST00000376191.3/ ENSP00000365362.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BN000141.1, AL663061.8 and AL662801.7.
            On Nov 23, 2018 this sequence version replaced NM_001011700.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..710
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..710
                     /gene="MCCD1"
                     /note="mitochondrial coiled-coil domain 1"
                     /db_xref="GeneID:401250"
                     /db_xref="HGNC:HGNC:20668"
                     /db_xref="MIM:609624"
     CDS             54..413
                     /gene="MCCD1"
                     /note="mitochondrial coiled-coil domain protein 1"
                     /codon_start=1
                     /product="mitochondrial coiled-coil domain protein 1
                     precursor"
                     /protein_id="NP_001011700.2"
                     /db_xref="CCDS:CCDS34396.1"
                     /db_xref="GeneID:401250"
                     /db_xref="HGNC:HGNC:20668"
                     /db_xref="MIM:609624"
                     /translation="MVLPLPWLSRYHFLRLLLPSWSLAPQGSHGCCSQNPKASMEEQTS
                     SRGNGKMTSPPRGPGTHRTAELARAEELLEQQLELYQALLEGQEGAWEAQALVLKIQKL
                     KEQMRRHQESLGGGA"
     transit_peptide 54..125
                     /gene="MCCD1"
                     /note="Mitochondrion. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P59942.3)"
     misc_feature    126..248
                     /gene="MCCD1"
                     /note="propagated from UniProtKB/Swiss-Prot (P59942.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      679..684
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCCD1"
                     /note="hexamer: AATAAA"
     polyA_site      710
                     /gene="MCCD1"
                     /note="major polyA site"
ORIGIN
        1 agttcctggt ggccgttgga cagctcacac agctccctgc caggtcaccc gccatggtcc
       61 tccctctgcc ctggctctct cggtaccatt tccttcgcct ccttctgccc tcctggtcct
      121 tggcacccca gggctcccat gggtgctgct cccaaaaccc caaagcaagc atggaagagc
      181 agaccagctc cagaggaaat gggaagatga cgtcccctcc caggggccct gggacccacc
      241 gcacagctga gctggcccga gctgaagagt tgttggagca gcagctggag ctgtaccagg
      301 ccctccttga agggcaggag ggagcctggg aggcccaagc cctggtgctc aagatccaga
      361 agctgaagga acagatgagg aggcaccaag agagccttgg aggaggcgcc taagtttccc
      421 ccagtgccca cagcaccctc cggcgctgaa aatacacgca ccacccacca ggagccttgg
      481 gatcataaac accccagcgt cttcccaggc cagagaaagt ggaagagacc acaaagcgca
      541 ggcaattggc aggcagtggg ggagccaggg ctctgcagtc ttagtcccat tcccctttga
      601 tctcacagca ggcagggcac ccaggcctta taggaattca ccctggacca tgccctaaaa
      661 taacctcacc ccaaatacaa taaagggacg aagcacttat agataccaca
//
LOCUS       NM_001011709            2374 bp    mRNA    linear   PRI 16-FEB-2021
DEFINITION  Homo sapiens pancreatic lipase related protein 3 (PNLIPRP3), mRNA.
ACCESSION   NM_001011709
VERSION     NM_001011709.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2374)
  AUTHORS   Saelee P, Wongkham S, Puapairoj A, Khuntikeo N, Petmitr S,
            Chariyalertsak S, Sumethchotimaytha W and Karalak A.
  TITLE     Novel PNLIPRP3 and DOCK8 gene expression and prognostic implications
            of DNA loss on chromosome 10q25.3 in hepatocellular carcinoma
  JOURNAL   Asian Pac J Cancer Prev 10 (3), 501-506 (2009)
   PUBMED   19640199
  REMARK    GeneRIF: Over expression of pancreatic lipase-related protein 3 is
            associated with hepatocellular carcinoma.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AL833418.1, BC117224.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145893,
            SAMEA2147596 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369230.4/ ENSP00000358232.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011328.11 and BC117224.1.
            On Nov 22, 2018 this sequence version replaced NM_001011709.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2374
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.3"
     gene            1..2374
                     /gene="PNLIPRP3"
                     /note="pancreatic lipase related protein 3"
                     /db_xref="GeneID:119548"
                     /db_xref="HGNC:HGNC:23492"
     misc_feature    164..166
                     /gene="PNLIPRP3"
                     /note="upstream in-frame stop codon"
     CDS             167..1570
                     /gene="PNLIPRP3"
                     /EC_number="3.1.1.3"
                     /note="PL-RP3"
                     /codon_start=1
                     /product="pancreatic lipase-related protein 3 precursor"
                     /protein_id="NP_001011709.2"
                     /db_xref="CCDS:CCDS31292.1"
                     /db_xref="GeneID:119548"
                     /db_xref="HGNC:HGNC:23492"
                     /translation="MLGIWIVAFLFFGTSRGKEVCYERLGCFKDGLPWTRTFSTELVGL
                     PWSPEKINTRFLLYTIHNPNAYQEISAVNSSTIQASYFGTDKITRINIAGWKTDGKWQR
                     DMCNVLLQLEDINCINLDWINGSREYIHAVNNLRVVGAEVAYFIDVLMKKFEYSPSKVH
                     LIGHSLGAHLAGEAGSRIPGLGRITGLDPAGPFFHNTPKEVRLDPSDANFVDVIHTNAA
                     RILFELGVGTIDACGHLDFYPNGGKHMPGCEDLITPLLKFNFNAYKKEMASFFDCNHAR
                     SYQFYAESILNPDAFIAYPCRSYTSFKAGNCFFCSKEGCPTMGHFADRFHFKNMKTNGS
                     HYFLNTGSLSPFARWRHKLSVKLSGSEVTQGTVFLRVGGAVRKTGEFAIVSGKLEPGMT
                     YTKLIDADVNVGNITSVQFIWKKHLFEDSQNKLGAEMVINTSGKYGYKSTFCSQDIMGP
                     NILQNLKPC"
     sig_peptide     167..217
                     /gene="PNLIPRP3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    386..388
                     /gene="PNLIPRP3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q17RR3.2); glycosylation site"
     misc_feature    539..541
                     /gene="PNLIPRP3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q17RR3.2); glycosylation site"
     polyA_site      2374
                     /gene="PNLIPRP3"
                     /note="major polyA site"
ORIGIN
        1 atttactttg cagagcataa ggtggaataa catgttcttt taaacgtaga gtttaaacat
       61 tgagttgcat cattgtgagg aaaaccactt agtattttat agtgaggtga ctttacaagt
      121 aaagatcttc aagaagattt ttatgtgatt taaaaaatca gcttagatgc ttggaatttg
      181 gattgttgca ttcttgttct ttggcacatc aagaggaaaa gaagtttgct atgaaaggtt
      241 agggtgtttc aaagatggtt taccatggac caggactttc tcaacagagt tggtaggttt
      301 accctggtct ccagagaaga taaacactcg tttcctgctc tacactatac acaatcccaa
      361 tgcctatcag gagatcagtg cggttaattc ttcaactatc caagcctcat attttggaac
      421 agacaagatc acccgtatca acatagctgg atggaaaaca gatggcaaat ggcagagaga
      481 catgtgcaat gtgttgctac agctggaaga tataaattgc attaatttag attggatcaa
      541 cggttcacgg gaatacatcc atgctgtaaa caatctccgt gttgttggtg ctgaggtggc
      601 ttattttatt gatgttctca tgaaaaaatt tgaatattcc ccttctaaag tgcacttgat
      661 tggccacagc ttgggagcac acctggctgg ggaagctggg tcaaggatac caggccttgg
      721 aagaataact gggttggacc cagctgggcc atttttccac aacactccaa aggaagtcag
      781 gctagacccc tcggatgcca actttgttga cgttattcat acaaatgcag ctcgcatcct
      841 ctttgagctt ggtgttggaa ccattgatgc ttgtggtcat cttgactttt acccaaatgg
      901 agggaagcac atgccaggat gtgaagactt aattacacct ttactgaaat ttaacttcaa
      961 tgcttacaaa aaagaaatgg cttccttctt tgactgtaac catgcccgaa gttatcaatt
     1021 ttatgctgaa agcattctta atcctgatgc atttattgct tatccttgta gatcctacac
     1081 atcttttaaa gcaggaaatt gcttcttttg ttccaaagaa ggttgcccaa caatgggtca
     1141 ttttgctgat agatttcact tcaaaaatat gaagactaat ggatcacatt attttttaaa
     1201 cacagggtcc ctttccccat ttgcccgttg gaggcacaaa ttgtctgtta aactcagtgg
     1261 aagcgaagtc actcaaggaa ctgtctttct tcgtgtaggc ggggcagtta ggaaaactgg
     1321 ggagtttgcc attgtcagtg gaaaacttga gccaggcatg acttacacaa aattaatcga
     1381 tgcagatgtt aacgttggaa acattacaag tgttcagttc atctggaaaa aacatttgtt
     1441 tgaagattct cagaataagt tgggagcaga aatggtgata aatacatctg ggaaatatgg
     1501 atataaatct accttctgta gccaagacat tatgggacct aatattctcc agaacctgaa
     1561 accatgctaa tctcagatac agtcttgatg gatttcttta gtaggagcaa tgaagaaaag
     1621 tgtctccttc cacctggcat ccagaccaaa tttgaccctt gtaaatgact tagtcattta
     1681 caagggtctt actcagagtc aagtacgggt ttgctttttt tctgtgtaga atgttcatct
     1741 aactgcacct taaaaacaca ctgaaccctg ggacaaaaga taattactat gatctgtagg
     1801 aatctggata tcattgacaa aatagagctg ttttggaatt ttcctgaata agaggaggtg
     1861 atgcaaatgt atgttgagtg tataaactca ctggacaaaa gtaagcctct ggcttgctga
     1921 gtttttgaag tatattttca ggtataataa tcattgttct aaaattatat aaaactattt
     1981 gttatgttgt taaatcttgc tgagacaaat tatgactata gtgcatgata tatagtagat
     2041 tataaccttg tgggttgatg tgtctatcta gtaataataa aaactaatga gatggcacta
     2101 gtatttccaa ggtgttcctt ggtgttcagg gtgtgcacaa gagagatttt ggagcttatc
     2161 tgttatgtgt tcatcagtta gcaatgggac ctgaagttca acaacccagg gtatagcccc
     2221 cttcctccaa agtccctgcc acaggagaat tactcctctc cctgggtctt gaatgctcta
     2281 tggtgaattt gtatttagcc tcaaggcagc atttcatttg taaagcactt gggtaaccct
     2341 ttgttcttgc aataacaata ttataatatt taaa
//
LOCUS       NM_001011713            7600 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens N-alpha-acetyltransferase 30, NatC catalytic subunit
            (NAA30), mRNA.
ACCESSION   NM_001011713
VERSION     NM_001011713.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7600)
  AUTHORS   Varland S, Myklebust LM, Goksoyr SO, Glomnes N, Torsvik J, Varhaug
            JE and Arnesen T.
  TITLE     Identification of an alternatively spliced nuclear isoform of human
            N-terminal acetyltransferase Naa30
  JOURNAL   Gene 644, 27-37 (2018)
   PUBMED   29247799
  REMARK    GeneRIF: Overexpression of full-length Naa30 increased cell
            viability.
REFERENCE   2  (bases 1 to 7600)
  AUTHORS   Starheim KK, Kalvik TV, Bjorkoy G and Arnesen T.
  TITLE     Depletion of the human N-terminal acetyltransferase hNaa30 disrupts
            Golgi integrity and ARFRP1 localization
  JOURNAL   Biosci Rep 37 (2) (2017)
   PUBMED   28356483
  REMARK    GeneRIF: ARFRP1 shifted from a predominantly cis-Golgi and
            endosome-to-trans-Golgi network localization to localizing both
            Golgi and non-Golgi vesicular structures in hNaa30-depleted cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 7600)
  AUTHORS   Van Damme P, Kalvik TV, Starheim KK, Jonckheere V, Myklebust LM,
            Menschaert G, Varhaug JE, Gevaert K and Arnesen T.
  TITLE     A Role for Human N-alpha Acetyltransferase 30 (Naa30) in Maintaining
            Mitochondrial Integrity
  JOURNAL   Mol Cell Proteomics 15 (11), 3361-3372 (2016)
   PUBMED   27694331
  REMARK    GeneRIF: Data show that the human NatC complex Nt-acetylates a broad
            range of cellular proteins, and that depletion of the catalytic
            subunit Naa30 affects mitochondrial morphology and function.
REFERENCE   4  (bases 1 to 7600)
  AUTHORS   Mughal AA, Grieg Z, Skjellegrind H, Fayzullin A, Lamkhannat M, Joel
            M, Ahmed MS, Murrell W, Vik-Mo EO, Langmoen IA and Stangeland B.
  TITLE     Knockdown of NAT12/NAA30 reduces tumorigenic features of
            glioblastoma-initiating cells
  JOURNAL   Mol Cancer 14, 160 (2015)
   PUBMED   26292663
  REMARK    GeneRIF: NAT12/NAA30 plays an important role in growth and survival
            of GICs possibly by regulating hypoxia response (HIF1a), levels of
            p-MTOR (Ser2448) and the p53 pathway. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 7600)
  AUTHORS   Aksnes H, Van Damme P, Goris M, Starheim KK, Marie M, Stove SI, Hoel
            C, Kalvik TV, Hole K, Glomnes N, Furnes C, Ljostveit S, Ziegler M,
            Niere M, Gevaert K and Arnesen T.
  TITLE     An organellar nalpha-acetyltransferase, naa60, acetylates cytosolic
            N termini of transmembrane proteins and maintains Golgi integrity
  JOURNAL   Cell Rep 10 (8), 1362-1374 (2015)
   PUBMED   25732826
REFERENCE   6  (bases 1 to 7600)
  AUTHORS   Polevoda B, Arnesen T and Sherman F.
  TITLE     A synopsis of eukaryotic Nalpha-terminal acetyltransferases:
            nomenclature, subunits and substrates
  JOURNAL   BMC Proc 3 Suppl 6 (Suppl 6), S2 (2009)
   PUBMED   19660095
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 7600)
  AUTHORS   Starheim KK, Gromyko D, Evjenth R, Ryningen A, Varhaug JE, Lillehaug
            JR and Arnesen T.
  TITLE     Knockdown of human N alpha-terminal acetyltransferase complex C
            leads to p53-dependent apoptosis and aberrant human Arl8b
            localization
  JOURNAL   Mol Cell Biol 29 (13), 3569-3581 (2009)
   PUBMED   19398576
  REMARK    GeneRIF: Human Naa30 (MAK3) is the catalytic subunit of the human
            NatC N-terminal acetyltransferase complex. NatC acetylates
            hydrophobic Met-starting N-termini, and NatC knockdown induces
            p53-dependent apoptosis.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.151325.1,
            SRR1660805.250676.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000556492.6/ ENSP00000452521.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK092674.1, BC118589.1, BC048983.1 and AL355834.4.
            On Nov 22, 2018 this sequence version replaced NM_001011713.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7600
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.3"
     gene            1..7600
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="N-alpha-acetyltransferase 30, NatC catalytic
                     subunit"
                     /db_xref="GeneID:122830"
                     /db_xref="HGNC:HGNC:19844"
                     /db_xref="MIM:617989"
     CDS             122..1210
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /EC_number="2.3.1.256"
                     /note="N-acetyltransferase 12 (GCN5-related, putative);
                     N-acetyltransferase MAK3 homolog; putative
                     N-acetyltransferase; natC catalytic subunit"
                     /codon_start=1
                     /product="N-alpha-acetyltransferase 30"
                     /protein_id="NP_001011713.2"
                     /db_xref="CCDS:CCDS32088.1"
                     /db_xref="GeneID:122830"
                     /db_xref="HGNC:HGNC:19844"
                     /db_xref="MIM:617989"
                     /translation="MAEVPPGPSSLLPPPAPPAPAAVEPRCPFPAGAALACCSEDEEDD
                     EEHEGGGSRSPAGGESATVAAKGHPCLRCPQPPQEQQQLNGLISPELRHLRAAASLKSK
                     VLSVAEVAATTATPDGGPRATATKGAGVHSGERPPHSLSSNARTAVPSPVEAAAASDPA
                     AARNGLAEGTEQEEEEEDEQVRLLSSSLTADCSLRSPSGREVEPGEDRTIRYVRYESEL
                     QMPDIMRLITKDLSEPYSIYTYRYFIHNWPQLCFLAMVGEECVGAIVCKLDMHKKMFRR
                     GYIAMLAVDSKYRRNGIGTNLVKKAIYAMVEGDCDEVVLETEITNKSALKLYENLGFVR
                     DKRLFRYYLNGVDALRLKLWLR"
     misc_feature    122..199
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q147X3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    233..385
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q147X3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    236..238
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q147X3.1); phosphorylation site"
     misc_feature    284..286
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q147X3.1); phosphorylation site"
     misc_feature    458..667
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q147X3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    470..472
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q147X3.1); phosphorylation site"
     misc_feature    575..577
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q147X3.1);
                     phosphorylation site"
     misc_feature    689..691
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q147X3.1); phosphorylation site"
     misc_feature    707..709
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q147X3.1); phosphorylation site"
     misc_feature    716..718
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q147X3.1); phosphorylation site"
     misc_feature    818..820
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q147X3.1); acetylation site"
     regulatory      1389..1394
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="hexamer: ATTAAA"
     polyA_site      1412
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="major polyA site"
     regulatory      2280..2285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="hexamer: AATAAA"
     polyA_site      2302
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="major polyA site"
     regulatory      4421..4426
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="hexamer: AATAAA"
     polyA_site      4440
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="major polyA site"
     regulatory      7577..7582
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="hexamer: AATAAA"
     polyA_site      7600
                     /gene="NAA30"
                     /gene_synonym="C14orf35; MAK3; Mak3p; NAT12; NAT12P"
                     /note="major polyA site"
ORIGIN
        1 acggcgacgg cggctgagtg agaaccttgg cggctgtgga ggctgccgcg gctgcgaagg
       61 aggcggcggc ggtggcggag gaagaggagt ggcggcagcg gcggcgggga cccgtgcggg
      121 gatggcggag gtaccgcctg ggcctagcag cctcctccca ccaccagcac ctccggcccc
      181 ggcggcggtc gagccccgct gtcccttccc ggcgggggcc gccctcgcct gctgcagcga
      241 ggacgaggag gacgacgaag agcacgaagg cggcggcagc aggagcccgg cgggcggaga
      301 gtcggcgacg gtggcggcca aggggcatcc gtgcctccgc tgccctcagc cgccgcagga
      361 gcagcagcag ctcaacggat tgattagccc cgaactgcgg cacctccggg cggccgcctc
      421 cctcaagagc aaggtcctga gcgtagcaga ggtggccgcg accacagcca cccctgacgg
      481 aggccccaga gcgactgcaa caaaaggagc cggggtacac tcgggcgaga ggccccctca
      541 ctccctctct agtaatgcaa gaactgcggt ccccagcccg gtggaggcag cggcggcgag
      601 cgatcccgcg gcggcccgca atggactggc cgagggcacc gagcaggagg aggaggagga
      661 agacgagcag gtgcggctgc tgtcttcgtc cctgaccgcc gactgcagct taagaagccc
      721 ttcgggcagg gaggttgagc ctggggagga tcggacgata cgatatgtcc gatatgaatc
      781 cgagctacaa atgcccgata tcatgagact gatcaccaaa gatctgtccg aaccctactc
      841 catttatacc tatagatatt ttatccacaa ctggccacag ctgtgcttct tggccatggt
      901 aggggaggag tgtgtaggtg ccatcgtttg caagttggat atgcacaaaa agatgttccg
      961 cagaggttat atagccatgt tagccgtgga ttccaaatac aggagaaatg gcattggtac
     1021 taacttggtt aagaaagcta tatatgccat ggttgaggga gactgtgatg aggttgtttt
     1081 ggaaaccgaa ataacaaata agtccgcttt gaaactttat gaaaatcttg gttttgttcg
     1141 agataagagg ctgttcagat actatttaaa tggagttgat gcactgcgac ttaaactgtg
     1201 gctgcgttga gaaactgaca tcaaggaaca actatcatcc gcacagaatc gacctttgca
     1261 tgcaatgcaa tttgtacaga attgctttgc aggtggattt agtaatttcc atgcagctct
     1321 tacctgtcag tgtctcattg agtgtcgcac aatatttgtt gcactttggc atggcacatt
     1381 tgttctgaat taaaagattg ttttaaactt caggagttct tttggtacca acaagatgtg
     1441 ccagttgata gccaagattt atgtgttcat ttgcaaagtc tgctgacaat gttatttaca
     1501 cagtgatcat tttatcacag aaccagtaag tggaacataa tttttgttcc ttaaaaaagc
     1561 caatgtggat tgtaaaagtc tttaagtata ctaacatttc acacaaaacc tgccctagtt
     1621 ttctgaagtg ggtgagggag acgcttcagt tttaggtttt attttttcaa tattaaattt
     1681 tccattcttg aatattggta cctcagtgat tagtgaatga aaaaaatgta gggtgggtat
     1741 gtcttacaat gagtaaaggt aacaattaaa ttttgtctgc cagtgcctgt gtagataagt
     1801 atatttgtct tcatctctag tttttgaatg catgctatct tttccttttc tttaaggcct
     1861 ttgcaagcaa acttttgttt ttatttaaat tctaaatttg ataaattatt tcagattttt
     1921 ataatttgga tacttttttc aggtgaatga aagaatggtt tactttagaa gtcccttttt
     1981 ccttacagta acaagttgaa tctacttgga aaattgagaa atggctcaaa agagataaga
     2041 aaagttgatg gagccgggaa ttgctggggt ttagatgcac tttttctttt gagagtaagg
     2101 gaagttttgg aaaagaatag aaaattagtg taagttgata tgattttatt taatcaaaat
     2161 tactgctacg ctgcgaagaa cagcttttac aaagtagctg aatttgtttt tcccacttga
     2221 tttggattca cattgctttc atttcttaaa atgcttcact tcaggttctt ggtcttggaa
     2281 ataaatttca aggtgcattg tatccatttt aagctgcttt attttatttt cacttgtatg
     2341 agcaaattct tgggggagct ttgcttttct tctgccagaa aaacaaaagg gggaaatgaa
     2401 aatctttttt ggaatgagtt ctgtgggttt tcttaacagc caccatgttt attagttaca
     2461 ttgtgttttg gccaatcagt gcaatgtaac aaattttaca gttaattgct ttcaattgag
     2521 tcagtaaacc tgtgatagat aatttattta actggaaaac ctaggtaccc ataagaaaaa
     2581 agattcattc tctgtgaaaa ctgtaggaat ctgttgttgt tttcatttga atatgctcta
     2641 cttctgctct agtatttggt ttggaatata ttttgtggct ctaattactg tatttttaaa
     2701 aaccctacct ccattaacag ttggtaaagg ccccttttca ggaaagtttg ttgctttttt
     2761 ttttttttta aaggaaagct gctctttgct cagtatagtg ttttgaaagt gaacatagta
     2821 acaaatactt taaaaataaa gatacacaat ttatatttga aaataaaaac tttctgctgg
     2881 tgggattatt tatagttctt tatttttaaa gaaaatgttt tcctttttat attgctcttg
     2941 aaagtttaat gagcagaata caatactggt tataataaaa atatggtaac cacacagtac
     3001 tcagcctttc aatatgtttt tggtcaaact tcatttaggc actagcattt agaagaatac
     3061 caatcacagt gatgcttttg ttatttaata tgaaggaaat ggaactaaaa catttatgtc
     3121 atcaaatttt atttcacttc tttatatttg acttgctggt tgatacataa tggttgatga
     3181 acatatattt gcttaaatca ctaataggga tggttgtaaa gtagatagat cattggttca
     3241 accattttag tgtttttgcc agattgtcaa tgaaaccatc atactgacct tttcctccaa
     3301 aattgccaaa ttgactgaac tggttgggtg tttgtaaaga tgacgttaac tgtgtgacta
     3361 aaaagtcaga tggttgccat attgtttgga atatgttgaa tgtcagtgta tgccttatgt
     3421 ctttaattgg gtatgcaaaa aaatttttac ttaagtagat taaaatttta acctctagca
     3481 tgaaaaccca gcaccaacac tgaaagactc cattcaggtt gaagtagcct caaacagtaa
     3541 tttacttttt gataataggc tgttgttttt cttaaataag cttaaaacaa ttctatctga
     3601 aattggtagc atgggttcac ttggctacaa ctgagcaaaa tagatgcaac tttcttttaa
     3661 tggggtgctg cctctttagg actgactgta ctatccactg acactggttt ggcagttggt
     3721 actgctgaac atttttatac atgctaccat gaagctatat atgttagtat tgaagaagct
     3781 aacgggtata ctatcatttt tgatgtgtgg gctgattata atttcctgta tttcctgtac
     3841 attgggatga aactacttta gcaaagtcca cagatcagaa accagacggt agtttttgaa
     3901 gttgaaacca gcaaaataag aaaaaataaa aaatcgattt taatattttc tgcctctttc
     3961 ccaaattacc cttcccactt gctcgacaaa tctatgtaaa gcagtttgtt ttttcatgtt
     4021 ttaactttac cttgccctgt gttatggtac tggctgacat gtctaagact ggatgtgtat
     4081 atttattatg gtgtctaaaa atcatgaagt tcatcacttt tcaggagtat agataaaatc
     4141 aaattggtag tacatcagag ttacttttca gtgcaccatg acatcactaa aatgagtgct
     4201 gtaatgttac agggctttca ggtttgtaaa aacataacca taaattatat tgacgtcaga
     4261 tatgagttga gtatctataa aatatcacgt gtatctcaaa atattggact gctgtttgac
     4321 tggatattgc tgcataattt tcttctattg tcccatatcc ttttggagag agatttaatg
     4381 ggatttgaaa tgtgcaagct gtctaaataa gatgcagtca aataaagtat ggttaagttg
     4441 tgtttgcatt tttcttttag atacagctgt gtgcatttta tgattgggtt gttttgcttt
     4501 tacctactaa gtaaaacagc aacaaacaat atattgtttc ccgcttcctg cctttcatct
     4561 aagagttacg gggaagaagt attacataat tgtcatcact gttgtgtgtt ctgacaaagt
     4621 aaatttgaaa ataacatgaa cttgattttt ctaaaagtac tcagtcaact catatgtcag
     4681 ttatcggtac attttccatg tgttcagtca aaagtttatc tttttagtct gtttcatagc
     4741 agtttatttc taagacagtt tttattttaa tttacttttt tgtctgtaca ctgccactct
     4801 gtaatgttcc ccccacccca tcccaccctt ggtaagacac caaagtaaaa tagagcaata
     4861 tccaaagagc tttttgcccc tgtcttgtga ggagctttaa atagctgtga atacttctgt
     4921 atgtcaagat tttcggattt tagtggaagg atgaaatgat ctgttttaat catttaactg
     4981 ctaaattact tttatcatgc atgccaaatc tttacattat tctttagagt aatactgtaa
     5041 aagtatctga gtttgtttta tttgggcctt atgtggaact cgaaatactt cataaattca
     5101 ctctaaggtc taaataagaa ccagaaggtt gataccattt tttcacacca gtaaacacag
     5161 atcagtatta acctgtagcc cagaggtgtt agatttattt tttgagacag agtctcactc
     5221 tgttgcccag gctggagtgc ggtggcacaa tcttggctca ctgcaacctc tgccccctgg
     5281 gttcaagcaa ttcttgtgcc ttagcctcct gagtagctgg gactacaggt gcatgccacc
     5341 acgcccagcc aatttcttgt attcttagta tgagacaggg tttcaccatg ttggccaggc
     5401 tggtctcaaa ctcctgacct caagtgatct gcccgcctcg gcctcccaaa gtgttggaat
     5461 tacaggcgtg agccaccacg cccagcctat gatattcttt ttataagcaa cttttaaaaa
     5521 gttttttaaa agatctcata agcatatagc actgctacac tttagatcac tactgtccag
     5581 tcacacttta tataaggata gatgtgtcct tttcactccc cagtatggta gttactagtc
     5641 acatgtgtag ctactgagcc cctgaagtgt gggtgggatg attgagctga atttgtaatt
     5701 ttaatcaaag ttagccacat gtggcttgtg gctactgtat tggacagcag agctttagat
     5761 aagcagtaat aacaggaagg gagtgtttgt ataggttgaa agataaaatg gaaggatcac
     5821 aattaggcca gatgtggtgg ctcacgccta ttatcccagc gttttgggag gctgagatgg
     5881 tagtttgcaa ccagccagga cagcatagca agactgtttc tgaaaaatct tttaaaataa
     5941 cacaactaaa aattacctct gagcaagagt atagctgaac tgtttatact gacaatatat
     6001 ttcattaata cagtgtttga ccactttcca ccccaccaac cactgccctt gttatgtagc
     6061 ctttctgaga aaagcagccc tttcagattt tattgttgga agttccttgg gttgcagaga
     6121 tgcagattca agtgccaaaa gttgtttctg atgagactta cctttttagc cttaaaatat
     6181 ttgtatagtt ggctctaata atttctcatt tttgatgaat ttgaaatcat ttcacttcta
     6241 aatgagattg gtcatctcat gagtggtcaa gttggaacat ggaggtctat catgttttta
     6301 acctccaaga tccacttatg gggatgaggc caaaggccaa tgttacttct agaagaacca
     6361 gattaatttt tctgccttcc atcaccgcag tgtattacct ttgaccctcg ctggtcatct
     6421 ggtaagtgta gttcatcaaa agagcagaaa taggcatagt aaacacctgg acacaaagac
     6481 agtgccaggc ttggtacaac ctgttaacac tgttgaggaa agagctcaaa acatgcatta
     6541 ctttggggat taagtcagtg tttaatctca atatgaaaca gacctagaaa taacaaagac
     6601 cactgaagtg ccaaatttat cttctaatac tactatttaa actatgcaat atgggggtta
     6661 taatgaaata gttttagtct atgtaaggtt tttataatgc taagaaataa gcttattttt
     6721 agatatggat tttttatgac tacctctttg ctgtatgaat atcttaattt tctaatacct
     6781 cagtttcatg agaactgtat gtacattttt gtaaataaaa taatttacca tatactagga
     6841 gaaggacctg cttttaaaga aattgtgtaa agacatttgt tattggatgt gttacatagt
     6901 aaatcaattt gaaatttctt aaaaacgttt ataagacttt tctggtctcc ttgaccgagg
     6961 gattttagta taagtattta gtgagatttg tattctagga agtgtgtgcc gtcacttgtt
     7021 catttacaac tgcaaagatt gtatgtctcc tatgttttcc tttcatgcca aagaaactca
     7081 ccctttttaa aagccagcag gttgcacaaa ccaaaaacaa aatattttgc cccttaaata
     7141 ggcattttaa gaagttttat ttcctggtac ttaaatattg tgtagaggga aagctagttg
     7201 taataatttg taaaaatgcg tgtattttta ggaatgcgct atttccagta agggaagtat
     7261 tgacattttt aaggaactgt gctgcattaa aatccacagt tgcatgaaac ttttaaaagt
     7321 ttaagatata aagtaattgc taaaatttgt gaactactca gaggactcaa tgccctaaca
     7381 tgtaggggat tgatcattgc gatgtttagg ccaggatttc tcatgattgt atatggttat
     7441 tgatcatttt taaggggctg aacctgctgc ctttatactt ttgacacctc cctccctccc
     7501 tccctccaaa ctgtggctgt aaacagtgac tctgcatagt cagcgttata cttgatttct
     7561 ttgtgaatgc aaataaaata aaatttgtaa gtccaccaaa
//
LOCUS       NM_001011717             485 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens neuromedin S (NMS), mRNA.
ACCESSION   NM_001011717
VERSION     NM_001011717.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 485)
  AUTHORS   Mori K, Ida T, Fudetani M, Mori M, Kaiya H, Hino J, Nakahara K,
            Murakami N, Miyazato M and Kangawa K.
  TITLE     Identification of neuromedin U precursor-related peptide and its
            possible role in the regulation of prolactin release
  JOURNAL   Sci Rep 7 (1), 10468 (2017)
   PUBMED   28874765
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 485)
  AUTHORS   Lee IT, Chang AS, Manandhar M, Shan Y, Fan J, Izumo M, Ikeda Y,
            Motoike T, Dixon S, Seinfeld JE, Takahashi JS and Yanagisawa M.
  TITLE     Neuromedin s-producing neurons act as essential pacemakers in the
            suprachiasmatic nucleus to couple clock neurons and dictate
            circadian rhythms
  JOURNAL   Neuron 85 (5), 1086-1102 (2015)
   PUBMED   25741729
  REMARK    GeneRIF: Neuromedin s neurons define a subpopulation of pacemakers
            that control suprachiasmatic nucleus network synchrony.
REFERENCE   3  (bases 1 to 485)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen AA,
            Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke L,
            Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM, Tiemeier
            H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst FC, Ward ME,
            Wright MJ, Davey Smith G, Deary IJ, Johannesson M, Plomin R,
            Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
REFERENCE   4  (bases 1 to 485)
  AUTHORS   Pinheiro AP, Bulik CM, Thornton LM, Sullivan PF, Root TL, Bloss CS,
            Berrettini WH, Schork NJ, Kaye WH, Bergen AW, Magistretti P, Brandt
            H, Crawford S, Crow S, Fichter MM, Goldman D, Halmi KA, Johnson C,
            Kaplan AS, Keel PK, Klump KL, La Via M, Mitchell JE, Strober M,
            Rotondo A, Treasure J and Woodside DB.
  TITLE     Association study of 182 candidate genes in anorexia nervosa
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 153B (5), 1070-1080 (2010)
   PUBMED   20468064
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 485)
  AUTHORS   Mitchell JD, Maguire JJ and Davenport AP.
  TITLE     Emerging pharmacology and physiology of neuromedin U and the
            structurally related peptide neuromedin S
  JOURNAL   Br J Pharmacol 158 (1), 87-103 (2009)
   PUBMED   19519756
  REMARK    GeneRIF: In man, NMS elicits vasoconstriction in isolated saphenous
            vein with comparable potency with NMU, but significantly reduces
            maximum contractile response. Review article
REFERENCE   6  (bases 1 to 485)
  AUTHORS   Mitchell JD, Maguire JJ, Kuc RE and Davenport AP.
  TITLE     Expression and vasoconstrictor function of anorexigenic peptides
            neuromedin U-25 and S in the human cardiovascular system
  JOURNAL   Cardiovasc Res 81 (2), 353-361 (2009)
   PUBMED   18987052
  REMARK    GeneRIF: both NMU receptor and peptide are expressed in human
            cardiovascular tissues and have shown that NMU-25 and NMS act as
            potent vasoconstrictors in human vascular beds
REFERENCE   7  (bases 1 to 485)
  AUTHORS   Miyazato M, Mori K, Ida T, Kojima M, Murakami N and Kangawa K.
  TITLE     Identification and functional analysis of a novel ligand for G
            protein-coupled receptor, Neuromedin S
  JOURNAL   Regul Pept 145 (1-3), 37-41 (2008)
   PUBMED   17870195
  REMARK    GeneRIF: NMS is implicated in the regulation of circadian rhythm and
            feeding behavior
REFERENCE   8  (bases 1 to 485)
  AUTHORS   Dowal L, Provitera P and Scarlata S.
  TITLE     Stable association between G alpha(q) and phospholipase C beta 1 in
            living cells
  JOURNAL   J Biol Chem 281 (33), 23999-24014 (2006)
   PUBMED   16754659
REFERENCE   9  (bases 1 to 485)
  AUTHORS   Mori K, Miyazato M, Ida T, Murakami N, Serino R, Ueta Y, Kojima M
            and Kangawa K.
  TITLE     Identification of neuromedin S and its possible role in the
            mammalian circadian oscillator system
  JOURNAL   EMBO J 24 (2), 325-335 (2005)
   PUBMED   15635449
REFERENCE   10  (bases 1 to 485)
  AUTHORS   Raddatz R, Wilson AE, Artymyshyn R, Bonini JA, Borowsky B, Boteju
            LW, Zhou S, Kouranova EV, Nagorny R, Guevarra MS, Dai M, Lerman GS,
            Vaysse PJ, Branchek TA, Gerald C, Forray C and Adham N.
  TITLE     Identification and characterization of two neuromedin U receptors
            differentially expressed in peripheral tissues and the central
            nervous system
  JOURNAL   J Biol Chem 275 (42), 32452-32459 (2000)
   PUBMED   10899166
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB164464.1, BR001411.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000376865.1/ ENSP00000366061.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB164464.1.
            On Feb 9, 2005 this sequence version replaced XM_065278.3.
            Summary: This gene encodes a member of the neuromedin family of
            neuropeptides. The encoded preproprotein is proteolytically
            processed to generate a biologically active neuropeptide that plays
            a role in the regulation of circadian rhythm, anorexigenic action,
            antidiuretic action, cardiovascular function and stimulation of
            oxytocin and vasopressin release. [provided by RefSeq, May 2016].
FEATURES             Location/Qualifiers
     source          1..485
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..485
                     /gene="NMS"
                     /note="neuromedin S"
                     /db_xref="GeneID:129521"
                     /db_xref="HGNC:HGNC:32203"
                     /db_xref="MIM:619337"
     CDS             8..469
                     /gene="NMS"
                     /note="prepro-NMS; neuromedin S precursor-related
                     peptide/neuromedin S preproprotein"
                     /codon_start=1
                     /product="neuromedin-S preproprotein"
                     /protein_id="NP_001011717.1"
                     /db_xref="CCDS:CCDS33259.1"
                     /db_xref="GeneID:129521"
                     /db_xref="HGNC:HGNC:32203"
                     /db_xref="MIM:619337"
                     /translation="MKHLRPQFPLILAIYCFCMLQIPSSGFPQPLADPSDGLDIVQLEQ
                     LAYCLSQWAPLSRQPKDNQDIYKRFLFHYSRTQEATHPVKTGFPPVHPLMHLAAKLANR
                     RMKRILQRGSGTAAVDFTKKDHTATWGRPFFLFRPRNGRNIEDEAQIQW"
     sig_peptide     8..85
                     /gene="NMS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     332..430
                     /gene="NMS"
                     /product="Neuromedin-S. /id=PRO_0000262483"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8A3.1)"
     misc_feature    428..430
                     /gene="NMS"
                     /note="Asparagine amide. /evidence=ECO:0000250; propagated
                     from UniProtKB/Swiss-Prot (Q5H8A3.1); amidation site"
     misc_feature    8..466
                     /gene="NMS"
                     /product="Prepro-neuromedin S"
     misc_feature    89..466
                     /gene="NMS"
                     /product="Pro-neuromedin S"
ORIGIN
        1 tctcacaatg aaacatcttc gtccccagtt ccctctcatc ttggccatct actgcttctg
       61 catgctacag attccctcct caggatttcc tcaaccttta gctgatcctt cagatggctt
      121 ggatattgtg cagcttgagc agctggcata ttgtctgagt cagtgggcac ctctttctcg
      181 ccaacctaag gataatcaag acatatacaa aaggtttttg tttcactact ccagaactca
      241 ggaggcaaca catccagtta aaactgggtt tcctccagtg catcctctaa tgcacctggc
      301 tgccaagctc gccaacaggc ggatgaagag aattctgcag cgaggctcgg ggactgctgc
      361 agtggacttc accaagaagg atcacactgc gacctgggga cgaccctttt tccttttcag
      421 gcccaggaat ggaagaaaca ttgaagatga ggcccagatt cagtggtgaa agaaagctgg
      481 atctg
//
LOCUS       NM_001011718            7695 bp    mRNA    linear   PRI 25-MAY-2022
DEFINITION  Homo sapiens XK related 7 (XKR7), mRNA.
ACCESSION   NM_001011718
VERSION     NM_001011718.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7695)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN,
            Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden
            JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM,
            Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor
            S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh
            VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry
            D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R,
            Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay
            H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce
            CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore
            N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC,
            Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL,
            Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM,
            Bentley DR, Beck S and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY534245.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03465404
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000562532.3/ ENSP00000477059.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY534245.1 and AL031658.11.
            On Nov 22, 2018 this sequence version replaced NM_001011718.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7695
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     gene            1..7695
                     /gene="XKR7"
                     /gene_synonym="C20orf159; dJ310O13.4"
                     /note="XK related 7"
                     /db_xref="GeneID:343702"
                     /db_xref="HGNC:HGNC:23062"
     CDS             26..1765
                     /gene="XKR7"
                     /gene_synonym="C20orf159; dJ310O13.4"
                     /note="X Kell blood group precursor-related family, member
                     7; XK, Kell blood group complex subunit-related family,
                     member 7; X-linked Kx blood group related 7"
                     /codon_start=1
                     /product="XK-related protein 7"
                     /protein_id="NP_001011718.1"
                     /db_xref="CCDS:CCDS33459.1"
                     /db_xref="GeneID:343702"
                     /db_xref="HGNC:HGNC:23062"
                     /translation="MAAKSDGAAASASPDPEGAAGGARGSAGGRGEAAAAAGPPGVVGA
                     GGPGPRYELRDCCWVLCALLVFFSDGATDLWLAASYYLQNQHTYFSLTLLFVLLPSLVV
                     QLLSFRWFVYDYSEPAGSPGPAVSTKDSVAGGAAISTKDSAGAFRTKEGSPEPGPQPAP
                     SSASAYRRRCCRLCIWLLQTLVHLLQLGQVWRYLRALYLGLQSRWRGERLRRHFYWQML
                     FESADVSMLRLLETFLRSAPQLVLQLSLLVHRGGAPDLLPALSTSASLVSLAWTLASYQ
                     KVLRDSRDDKRPLSYKGAVAQVLWHLFSIAARGLAFALFASVYKLYFGIFIVAHWCVMT
                     FWVIQGETDFCMSKWEEIIYNMVVGIIYIFCWFNVKEGRSRRRMTLYHCIVLLENAALT
                     GFWYSSRNFSTDFYSLIMVCVVASSFALGIFFMCVYYCLLHPNGPMLGPQAPGCIFRKA
                     SEPCGPPADAITSPPRSLPRTTGAERDGASAGERAGTPTPPVFQVRPGLPPTPVARTLR
                     TEGPVIRIDLPRKKYPAWDAHFIDRRLRKTILALEYSSPATPRLQYRSVGTSQELLEYE
                     TTV"
     misc_feature    26..145
                     /gene="XKR7"
                     /gene_synonym="C20orf159; dJ310O13.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH72.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    200..262
                     /gene="XKR7"
                     /gene_synonym="C20orf159; dJ310O13.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH72.1);
                     transmembrane region"
     misc_feature    290..352
                     /gene="XKR7"
                     /gene_synonym="C20orf159; dJ310O13.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH72.1);
                     transmembrane region"
     misc_feature    461..523
                     /gene="XKR7"
                     /gene_synonym="C20orf159; dJ310O13.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH72.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    803..865
                     /gene="XKR7"
                     /gene_synonym="C20orf159; dJ310O13.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH72.1);
                     transmembrane region"
     misc_feature    965..1027
                     /gene="XKR7"
                     /gene_synonym="C20orf159; dJ310O13.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH72.1);
                     transmembrane region"
     misc_feature    1088..1150
                     /gene="XKR7"
                     /gene_synonym="C20orf159; dJ310O13.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH72.1);
                     transmembrane region"
     misc_feature    1175..1237
                     /gene="XKR7"
                     /gene_synonym="C20orf159; dJ310O13.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH72.1);
                     transmembrane region"
     misc_feature    1268..1330
                     /gene="XKR7"
                     /gene_synonym="C20orf159; dJ310O13.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH72.1);
                     transmembrane region"
     misc_feature    1421..1555
                     /gene="XKR7"
                     /gene_synonym="C20orf159; dJ310O13.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH72.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      7672..7677
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XKR7"
                     /gene_synonym="C20orf159; dJ310O13.4"
                     /note="hexamer: ATTAAA"
     polyA_site      7695
                     /gene="XKR7"
                     /gene_synonym="C20orf159; dJ310O13.4"
                     /note="major polyA site"
ORIGIN
        1 gctccccgcc tccctctccg ccaacatggc cgcgaagtcg gatggagcgg cggcctcggc
       61 cagcccggac ccggaggggg ctgccggtgg agcccggggc agtgccggcg ggcgcgggga
      121 ggcggcggcg gcggccgggc ccccgggggt cgtcggggcg ggcggcccgg ggccgcgcta
      181 cgagctgcgg gactgctgct gggtgctgtg cgcgctgctc gtgttcttct ccgacggtgc
      241 cacggacctg tggctggcgg cctcctacta cctgcagaat caacacacct acttcagcct
      301 caccttgctg ttcgtgctcc tgccctcgct ggtcgtgcag ttactgagct tccgctggtt
      361 cgtctacgac tactcggagc ccgcagggtc cccgggaccc gccgtcagca ccaaggacag
      421 cgtagccggc ggagccgcca tcagcaccaa ggacagcgcc ggcgccttcc ggaccaaaga
      481 aggcagcccc gagccgggtc cccagcctgc gccctcctcg gccagcgcct accgccgccg
      541 ctgctgccgc ctctgcatct ggctgctgca gaccctcgtc cacctcctgc agctcggcca
      601 ggtctggagg tacctgcgcg ccctgtacct ggggctgcag agccgctggc gcggggagcg
      661 gctgcggcgc cacttctact ggcagatgct gttcgagagc gccgacgtga gcatgctgcg
      721 cttgctggag accttcctgc gcagcgcgcc gcagctagtg ctgcagctca gcctgctggt
      781 gcaccgcggt ggcgcgcccg acctgctgcc ggccctctcc acctccgcct ccctcgtgtc
      841 tctggcctgg acgctggcct cctaccagaa ggtgctgcgg gactcgcggg acgacaagcg
      901 gccgctgtcc tacaagggcg ccgtggcaca ggtgctgtgg cacctgttca gcattgccgc
      961 ccgcggcctg gccttcgcgc tcttcgccag cgtctacaag ctctattttg gcatcttcat
     1021 cgtggcccac tggtgcgtca tgaccttctg ggtcatccaa ggggagacgg acttctgcat
     1081 gtccaagtgg gaggagatca tctacaacat ggtcgtgggc atcatctaca tcttctgctg
     1141 gttcaacgtc aaggagggcc gcagccgccg ccgcatgacc ctctaccact gcatcgtcct
     1201 gctggagaac gccgcgctca ccggcttctg gtactccagc cgcaacttct caaccgactt
     1261 ctactcgctc atcatggtct gcgtagtggc ctccagcttt gcgctgggca tattcttcat
     1321 gtgtgtctac tactgtctcc tgcaccccaa tgggcccatg ctgggtcccc aggcacctgg
     1381 ttgcatcttc cgtaaggcct cagagccctg tggcccaccc gctgacgcca tcacgagtcc
     1441 ccccaggtcc ctgccaagga ctacaggtgc tgagcgggat ggggcctcgg cgggagagcg
     1501 tgcagggacc cccaccccac ctgtcttcca ggtgcggcct ggcttgcctc ccacaccagt
     1561 ggcccgcacc ttgcggacag aggggcctgt catccggatt gacttgcctc gcaagaagta
     1621 cccggcctgg gatgctcatt ttattgaccg ccggctccgg aagaccatcc tggcactgga
     1681 gtactcctca cctgccacgc cccggttgca gtaccggagt gtggggactt cccaggagct
     1741 gctggagtat gagaccacag tgtaggctac agtgtcccag cacaaaaggg acaggcttgg
     1801 ctgatcccac atccgccgca gtgttgtgcc ccgaatttca gggccaccag gctaaggggg
     1861 agtggatctg ttggtccaag ggtagagtgg ccccactctt gggttctttc aggggagggg
     1921 gcagccttgc ggaggcccca gccctgggcc ccgttttcag ccttgtggcc cattccctaa
     1981 attcccctga cccagggcct ggggaatcat ctggtgctac acttttcgag ctgccctgct
     2041 ttcatggggc ctccacacct ctcccctgcc tggcgttgcc catgtgttgc ccctgctgga
     2101 cttgccagag aaagggcact gtctggggtc catgacctag accctgtgct cctcaggggt
     2161 tgtggagagt gggctgcctc tatggtggga aaagatctct gagaaggatg gaggtggccg
     2221 tggaagggat ggggtgaggt tggagcattg tgtggacagg gatggcgtgg ctcctgtagc
     2281 atctgaggcc tggagccagg gcaagaggga gctgaagaag ggagttgggg tggggcaggg
     2341 tgttggggtg gggggctggc agtgctggag atggatagga gaaagaactg gggggggggt
     2401 ctaggctggc agaagcatgg aggggtggaa gacttggggg aggggaacct gcaatccaga
     2461 gcatagcgaa caagaatgaa ctccttagga gacgtctctt gttgtgttgt gggctctgtg
     2521 aaggatgaag ttccacacac ctcaggtgaa atgtttgaag gagccatttt ttgttctaga
     2581 tgtgcacctg gaacgtggct tctagataca ggtcttcaac acagcagata agatgtctgg
     2641 aaagatctct gggctcaagt gcaggtgagg ttttagcaca gttatcagag gaactgatcc
     2701 agaagcaggc ttagttctag attgagttct agagtgctag gctgataaaa tgtcccaggg
     2761 agccactctg atctgtgtat tctgttgtga ggaggaggac actggaggcc tgctgctctg
     2821 ctgtggggga ttctagcacc tgtcacagtg gtgggggaga agaggttcta gagcccagcg
     2881 tgaatggaat tttctaggaa tgggtgctct cattctagac ttctggggct catgggagct
     2941 ctaggcccct gttaccttgg tccatagcca tctttctaaa aggaaattgt cctcagaacc
     3001 cctgagacat ttcagctgcc aactggttcc cagctggaaa aaaaaatagc tctggggacg
     3061 tgacatgaat cctggctctc agccactctg caaatggggc tccctggagc ggcatctggg
     3121 aaactgactt gttttgcctt agatctgatg actccccagg acctgtggtc tattcccatg
     3181 gcctgaacat cctggagtgc ccaggggact cacccagggc ccctcctccc acctaggaca
     3241 gccagtgctg gattgagggg gcgtatggga gaggggaagt aggcagttcc atggggtgag
     3301 gagacagagc ctctagcaga gctgggaacc caacccaccc cccacccccc cacacacaca
     3361 ctcccacagc aacttaggtg tgattggtgg gagaggacag cagcggatgt taaggacaga
     3421 tgccaacctg atcctggagt gaggtgggcc atgagaatcc tagactatgc aaattagagg
     3481 gatgcttagc cctccctggt tcagcctctc ttgggttaca gatgggaaac tgaggcccag
     3541 agtggcagcc actctctcaa ggtcccagac tctgggctgc ccatcaaaag gtgatgggta
     3601 atgatgaatt gctggggatg cagggtaacc ccaaaggcag ggagggccag actgcccaca
     3661 tacacacaag cacaagcaca accatgatac gggtcaccct ccccaccagc acacaggccg
     3721 agatggtgta cgcatcatcc ctcctgccaa cacagcaaga gtgcttttcc ttctttctgc
     3781 tgctaagcac cctcaggaac gaggcctcga gggtgacggg aggtgggaga agcccaaggc
     3841 tgacccaggc ccactctgtt gggttcatcc atcctccaaa tccatctttg gaggctgaat
     3901 tcacacacaa agccgttgtg agatgggagc tctgaagatg cggacccaga cccagaaaca
     3961 gactgtttct ccagggccaa ctttgtgcca ggaattttca ccccatgtcg tttcacttac
     4021 actctcctct ggtcacgacg tccctgcaag agaggtatta tcaacccatc ttacagacga
     4081 ggaaactgag gcccagagat gtagcatgag ggtcaccctt ggcaagttat tctcctcccc
     4141 agtatcccag aatggcccat ctggctgctg ccttctagag gaaaagtcct agctggggtc
     4201 ctttacactc caggagactc ccaaggggca gggatgtgct ggcagggctt ggcatggtct
     4261 gaggctcgca gggaagccat ggctacattt ttggatttta ctccaccccc actccccacc
     4321 tcttctcaac cccacacacc cttccctcag ggcttctgcc tgcagggaca tctgggcaca
     4381 ggaatggcca cagtcaaagg gcccagggag agggctgcag gcacctcctc ctgcttctca
     4441 ccctcagaag agtctcagcc cttaaaggac tctccaccca ggagctcggg accaggcctg
     4501 aggccccctg ctccactggc ttgtcccttc atttcactgg gatagaggag tcagatgagg
     4561 gaggggtcca tccccttgga gctgttttgt ttttctttct gtgacacaat ctacctcagc
     4621 cagtctctcc cctagcagaa ctgacccccc tggtcctctg cctcctgtcc cctgaccccc
     4681 accccagtct ggatgttcag tccttccctg tccttcccac cctgccaggg tccttgcagc
     4741 ccagagggtc cctgagggtt ccttaagcca cctgccctcc acatccatta gacaggagaa
     4801 agtgagaccc agagaggacc aaggactcac caaaggccac acaggaagtc agtggcagtt
     4861 aggatttccc tggggatgag aggtagttgg gtgtgtctta attttgccag gaacagaaga
     4921 gaacaggatg ctttgggtac caaatatggc aggccctgcc ctcagttacc tctaacccca
     4981 ggagaccagt gtccccatct ccagggcaga cttctgtcta cctgttttct tagaactgac
     5041 ccccacgctg ttgactgtgt tccccaaacc tctgcaggca ccacacacac ccacatcacg
     5101 gcgcctcctg gcactgatgt gccatgtgcc ttgtaactgt caccccagct gaacagcaca
     5161 gacctcccca ctcccccaca cagggctccc caatgaggga gccttgcttg atcccctcct
     5221 gtcatctgcc tcattcttgt gtctccccca aatctgcctt acccccagcc agctccctgc
     5281 tacacctgtg tcccacagag gcatgtcacc catgagagtc gggaaagaca gagggcaggg
     5341 aaggtgaggc ctggggaaag tccaggcctc tggataaggg ctgagggagc tgggaatatc
     5401 cagggaaggt ctcgcttgca gtcaacaccc tcctaagtac tcgagttctg caggttcttc
     5461 ccttggaatt aatctggacc tggagtccac agaagcctca gacaataggg agaaggtttt
     5521 ctgggacgaa ggctgcatgg gatgcaaact caaatgcctc gagataatga aactaagagt
     5581 aatggagaca atagggagtg ttggggactc tggcagacag gagagtgagt gtgtgccctg
     5641 cctgtaggta ctaaaattca aatgtttggg aaactgctgg ccactcatat ttggcccacg
     5701 tgccaccagt ttgagactta cggttcaaaa tgttgagaag gttctggagt gtcctgccaa
     5761 gtggaaaccc ctcagcggaa gtcagggaca gaggctgtgg ctccctctga gactttgcta
     5821 gtccaaccct aaatccccat cacctggcta tctgagaact gagcccactg ccctctcagc
     5881 tgaaaaggga aatctggggg gtccacaggg tccctggttt gggaatcatc tgataagggc
     5941 tacaggcccc tccagtgcct catggggtta gaggctgctg gagtcttctc cagcttgggg
     6001 gcccctggtt aggaggaatc tacattgggt tgcaggggag tccaggtgca ggatgtggac
     6061 tgaaagccag gacccaagag tcccattctg tgctggcccc tgccaccttt ggcacctgtc
     6121 tccctcccag ttcaagctgt ggtggggcct gcagtagagg ttggtagggg gagctgtagt
     6181 ttctatatta aagtgctttg cagtgtctca atggaaggga acaagtgggt gtcaagccgc
     6241 atgggcagta gtagggttgg ggtttgagcc cccttcccaa ccatagaggc ttctgagacc
     6301 tggggctggg gaggaaagga gcttcaatgt gccattctgg ttggggagag gataggacat
     6361 ttctgggtcc ttggctgctg ccggtagagg tatggggagg aaaaactcta gagtgggaga
     6421 tgtggaagtg gaaaaggaag gccctgtcca ggcctggcct ggtttctgga gacagaaaac
     6481 tccccagggg acagagaggt tacccccttg tgcttagctt ctgccaccct tcccttctct
     6541 ggaggagaag gctgccctct cctcagcaac cctggccttt attctatgca taaccactgc
     6601 aagggcaccc ctggccaggc tgaatgggtg ggggtcccag ggcacctgca ataatctcag
     6661 aatggagggt atcctgggac aaagaggggg tacagaaggt gccagggggg aaaaggtgat
     6721 tcctccatct ctctctcacc caaatccccc cagatcgaat ctgacccttt tccctggtct
     6781 ccattgtgct aaaccaccga acttggagga gcctcatata aacatagccc ccagccccac
     6841 tggctttccg aacccatcat gaaatagctg gaaggtatct gaaccgttcc catagctccc
     6901 tcattatttt cttccctgag gatcctgtgg tttaggagat ttttctccca aaccagcctc
     6961 atttcttgaa gaagaattca ttttcccata ttaaattaac tcaagctgag cttctgattg
     7021 cagataaatg tttctaaggc ctcaagtcaa cttctagggc ttgaaggtgg gggaatatat
     7081 gtattttatt gagttgctta atacaaaatt ctcaaaagca cttgtgggca ctcattcctg
     7141 ccttcacagg ccctcagggt ctgggacccc acgttgggaa tcaatggttt agacatccag
     7201 catcctattt tactgaaggg gcaagcccag agatgggaga tggccagccc aaggtcacac
     7261 agcaagttgg tggcagggtg agaccagaac ccggttcttt tgagggtccc accagaatat
     7321 ccccagccct gatcctcccc tccatgcccc tggaactcta ggaatcacta gccatgcctg
     7381 aggggctaat ctccctctgt cagcacaatt ccgagtgatt cttcccctcc ctgtcgtctc
     7441 ttcctcccta acgggccctc acccctgtcc tcttctgttt ccttttcctg gtcccacctc
     7501 ctggtattta ctacatctgt gccatccctc atccccctga cccccattca ccctccgagc
     7561 ttcccccagg agggggaggg ggagggggcc ccgagctggg gcctctttac tgagactctt
     7621 ttgtacacca caaacttttt gtatattttt aattttgctg cgacatgaga tattaaaagt
     7681 catttcagta cgtgc
//
LOCUS       NM_001011719            2482 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens arylsulfatase family member H (ARSH), mRNA.
ACCESSION   NM_001011719
VERSION     NM_001011719.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2482)
  AUTHORS   Sardiello M, Annunziata I, Roma G and Ballabio A.
  TITLE     Sulfatases and sulfatase modifying factors: an exclusive and
            promiscuous relationship
  JOURNAL   Hum Mol Genet 14 (21), 3203-3217 (2005)
   PUBMED   16174644
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381130.3/ ENSP00000370522.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC112653.5 and AY875940.1.
            On Sep 3, 2019 this sequence version replaced NM_001011719.1.
            Summary: Sulfatases, such as ARSH, hydrolyze sulfate esters from
            sulfated steroids, carbohydrates, proteoglycans, and glycolipids.
            They are involved in hormone biosynthesis, modulation of cell
            signaling, and degradation of macromolecules (Sardiello et al.,
            2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
FEATURES             Location/Qualifiers
     source          1..2482
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.33"
     gene            1..2482
                     /gene="ARSH"
                     /gene_synonym="sulfatase"
                     /note="arylsulfatase family member H"
                     /db_xref="GeneID:347527"
                     /db_xref="HGNC:HGNC:32488"
                     /db_xref="MIM:300586"
     CDS             68..1756
                     /gene="ARSH"
                     /gene_synonym="sulfatase"
                     /note="ASH"
                     /codon_start=1
                     /product="arylsulfatase H"
                     /protein_id="NP_001011719.1"
                     /db_xref="CCDS:CCDS35198.1"
                     /db_xref="GeneID:347527"
                     /db_xref="HGNC:HGNC:32488"
                     /db_xref="MIM:300586"
                     /translation="MTRNARPNIVLLMADDLGVGDLCCYGNNSVSTPNIDRLASEGVRL
                     TQHLAAASMCTPSRAAFLTGRYPIRSGMVSAYNLNRAFTWLGGSGGLPTNETTFAKLLQ
                     HRGYRTGLIGKWHLGLSCASRNDHCYHPLNHGFHYFYGVPFGLLSDCQASKTPELHRWL
                     RIKLWISTVALALVPFLLLIPKFARWFSVPWKVIFVFALLAFLFFTSWYSSYGFTRRWN
                     CILMRNHEIIQQPMKEEKVASLMLKEALAFIERYKREPFLLFFSFLHVHTPLISKKKFV
                     GRSKYGRYGDNVEEMDWMVGKILDALDQERLANHTLVYFTSDNGGHLEPLDGAVQLGGW
                     NGIYKGGKGMGGWEGGIRVPGIFRWPSVLEAGRVINEPTSLMDIYPTLSYIGGGILSQD
                     RVIDGQNLMPLLEGRASHSDHEFLFHYCGVYLHTVRWHQKDCATVWKAHYVTPKFYPEG
                     TGACYGSGICSCSGDVTYHDPPLLFDISRDPSEALPLNPDNEPLFDSVIKKMEAAIREH
                     RRTLTPVPQQFSVFNTIWKPWLQPCCGTFPFCGCDKEDDILPMAP"
     misc_feature    566..628
                     /gene="ARSH"
                     /gene_synonym="sulfatase"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5FYA8.1);
                     transmembrane region"
     misc_feature    632..694
                     /gene="ARSH"
                     /gene_synonym="sulfatase"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5FYA8.1);
                     transmembrane region"
     regulatory      2462..2467
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARSH"
                     /gene_synonym="sulfatase"
                     /note="hexamer: AATAAA"
     polyA_site      2482
                     /gene="ARSH"
                     /gene_synonym="sulfatase"
                     /note="major polyA site"
ORIGIN
        1 tgctttcagg agctgctggc tgtcagtgtc cctgtgctgt ttgttttgcg gtgttgatgg
       61 cacatttatg acaagaaacg ccagacccaa cattgtcctg ctgatggcag atgaccttgg
      121 agtgggggat ttgtgctgct acggtaataa ctcagtgagc acacctaata ttgaccgcct
      181 ggcaagtgaa ggagtgaggc ttacccagca tctcgcagct gcttccatgt gcaccccaag
      241 tcgggctgcc ttcctgaccg gccggtaccc catcagatca gggatggtgt ctgcctacaa
      301 cctgaaccgt gccttcacgt ggcttggtgg gtcaggtggt cttcccacca atgaaacgac
      361 ttttgccaag ctgctgcagc accgtggcta ccgcacggga ctcataggca aatggcacct
      421 gggtttgagc tgcgcctctc ggaatgatca ctgttaccac ccgctcaacc atggttttca
      481 ctacttttac ggggtgcctt ttggactttt aagcgactgc caggcatcca agacaccaga
      541 actgcaccgc tggctcagga tcaaactgtg gatctccacg gtagcccttg ccctggttcc
      601 ttttctgctt ctcattccca agttcgcccg ctggttctca gtgccatgga aggtcatctt
      661 tgtctttgct ctcctcgcct ttctgttttt cacttcctgg tactctagtt atggatttac
      721 tcgacgttgg aattgcatcc ttatgaggaa ccatgaaatt atccagcagc caatgaaaga
      781 ggagaaagta gcttccctca tgctgaagga ggcacttgct ttcattgaaa ggtacaaaag
      841 ggaacctttt ctcctctttt tttccttcct gcacgtacat actccactca tctccaaaaa
      901 gaagtttgtt gggcgcagta aatatggcag gtatggggac aatgtagaag aaatggattg
      961 gatggtgggt aaaatcctgg atgccctgga ccaggagcgc ctggccaacc acaccttggt
     1021 gtacttcacc tctgacaacg ggggccacct ggagcccctg gacggggctg ttcagctggg
     1081 tggctggaac gggatctaca aaggtggcaa aggaatggga ggatgggaag gaggtatccg
     1141 tgtgccaggg atattccggt ggccgtcagt cttggaggct gggagagtga tcaatgagcc
     1201 caccagctta atggacatct atccgacgct gtcttatata ggcggaggga tcttgtccca
     1261 ggacagagtg attgacggcc agaacctaat gcccctgctg gaaggaaggg cgtcccactc
     1321 cgaccacgag ttcctcttcc actactgtgg ggtctatctg cacacggtca ggtggcatca
     1381 gaaggactgt gcaactgtgt ggaaagctca ttatgtgact cctaaattct accctgaagg
     1441 aacaggtgcc tgctatggga gtggaatatg ttcatgttcg ggggatgtaa cctaccacga
     1501 cccaccactc ctctttgaca tctcaagaga cccttcagaa gcccttccac tgaaccctga
     1561 caatgagcca ttatttgact ccgtgatcaa aaagatggag gcagccataa gagagcatcg
     1621 taggacacta acacctgtcc cacagcagtt ctctgtgttc aacacaattt ggaaaccatg
     1681 gctgcagcct tgctgtggga ccttcccctt ctgtgggtgt gacaaggaag atgacatcct
     1741 tcccatggct ccctgagacc atgcggacca cgtgttaccc accacaaact tactgttaca
     1801 atggtcatag gagcagagct cacctgactg attcattcca tttgggataa aaactgatgg
     1861 cccaacccat tgttttatcc tcagaaatca gttctttcaa gagctcggtg aaattaaagt
     1921 gggcccatat aacagtgaac ctggagggga gcatttgttg tataattttt ttctagtata
     1981 taattgtgcc attgcccaag gaaaagagca aatcaaggtg acttcagcag attcttgtag
     2041 agcttttgtt cctagaattc atggaagcat caggtccaat gtcataagtt agaaacttct
     2101 gcttgcagat tctataccca ggcatgctag ctttctaata aatcatgata agtacttaat
     2161 tttttcatga agcagagggt cacataaaac ttgaagtagt gctgttatag tcagtttgac
     2221 ttcttgattt tctctctttc cttcttttct cttcctgtcc gatacgcatc tggttatgag
     2281 aaaaaatgct gggctgaagt tcttgacttt gcttcctcgt agctatatca tcgtggaaat
     2341 gtctctgtga tttggtttct tcatgtgtaa aataaggaaa accagtgtct acttcacaga
     2401 gtagctatga ggattacatg cattaattaa tgtgaaattg ccttgtgtag aataagcagt
     2461 caataaatgt tattattaca aa
//
LOCUS       NM_001011720            3200 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens XK related 9 (XKR9), transcript variant 1, mRNA.
ACCESSION   NM_001011720
VERSION     NM_001011720.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3200)
  AUTHORS   Straub MS, Alvadia C, Sawicka M and Dutzler R.
  TITLE     Cryo-EM structures of the caspase-activated protein XKR9 involved in
            apoptotic lipid scrambling
  JOURNAL   Elife 10, e69800 (2021)
   PUBMED   34263724
  REMARK    GeneRIF: Cryo-EM structures of the caspase-activated protein XKR9
            involved in apoptotic lipid scrambling. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 3200)
  AUTHORS   Borne Y, Soderholm M, Barregard L, Fagerberg B, Persson M, Melander
            O, Thevenod F, Hedblad B and Engstrom G.
  TITLE     Genome wide association study identifies two loci associated with
            cadmium in erythrocytes among never-smokers
  JOURNAL   Hum Mol Genet 25 (11), 2342-2348 (2016)
   PUBMED   27005419
  REMARK    GeneRIF: This genome-wide study of never smokers from the general
            population identified two independent regions related to erythrocyte
            cadmium. The strongest locus covers the XKR9 and LACTB2 genes, which
            both could have related functions in cadmium absorption and
            metabolism
REFERENCE   3  (bases 1 to 3200)
  AUTHORS   Estrada K, Styrkarsdottir U, Evangelou E, Hsu YH, Duncan EL, Ntzani
            EE, Oei L, Albagha OM, Amin N, Kemp JP, Koller DL, Li G, Liu CT,
            Minster RL, Moayyeri A, Vandenput L, Willner D, Xiao SM,
            Yerges-Armstrong LM, Zheng HF, Alonso N, Eriksson J, Kammerer CM,
            Kaptoge SK, Leo PJ, Thorleifsson G, Wilson SG, Wilson JF, Aalto V,
            Alen M, Aragaki AK, Aspelund T, Center JR, Dailiana Z, Duggan DJ,
            Garcia M, Garcia-Giralt N, Giroux S, Hallmans G, Hocking LJ, Husted
            LB, Jameson KA, Khusainova R, Kim GS, Kooperberg C, Koromila T, Kruk
            M, Laaksonen M, Lacroix AZ, Lee SH, Leung PC, Lewis JR, Masi L,
            Mencej-Bedrac S, Nguyen TV, Nogues X, Patel MS, Prezelj J, Rose LM,
            Scollen S, Siggeirsdottir K, Smith AV, Svensson O, Trompet S,
            Trummer O, van Schoor NM, Woo J, Zhu K, Balcells S, Brandi ML,
            Buckley BM, Cheng S, Christiansen C, Cooper C, Dedoussis G, Ford I,
            Frost M, Goltzman D, Gonzalez-Macias J, Kahonen M, Karlsson M,
            Khusnutdinova E, Koh JM, Kollia P, Langdahl BL, Leslie WD, Lips P,
            Ljunggren O, Lorenc RS, Marc J, Mellstrom D, Obermayer-Pietsch B,
            Olmos JM, Pettersson-Kymmer U, Reid DM, Riancho JA, Ridker PM,
            Rousseau F, Slagboom PE, Tang NL, Urreizti R, Van Hul W, Viikari J,
            Zarrabeitia MT, Aulchenko YS, Castano-Betancourt M, Grundberg E,
            Herrera L, Ingvarsson T, Johannsdottir H, Kwan T, Li R, Luben R,
            Medina-Gomez C, Palsson ST, Reppe S, Rotter JI, Sigurdsson G, van
            Meurs JB, Verlaan D, Williams FM, Wood AR, Zhou Y, Gautvik KM,
            Pastinen T, Raychaudhuri S, Cauley JA, Chasman DI, Clark GR,
            Cummings SR, Danoy P, Dennison EM, Eastell R, Eisman JA, Gudnason V,
            Hofman A, Jackson RD, Jones G, Jukema JW, Khaw KT, Lehtimaki T, Liu
            Y, Lorentzon M, McCloskey E, Mitchell BD, Nandakumar K, Nicholson
            GC, Oostra BA, Peacock M, Pols HA, Prince RL, Raitakari O, Reid IR,
            Robbins J, Sambrook PN, Sham PC, Shuldiner AR, Tylavsky FA, van
            Duijn CM, Wareham NJ, Cupples LA, Econs MJ, Evans DM, Harris TB,
            Kung AW, Psaty BM, Reeve J, Spector TD, Streeten EA, Zillikens MC,
            Thorsteinsdottir U, Ohlsson C, Karasik D, Richards JB, Brown MA,
            Stefansson K, Uitterlinden AG, Ralston SH, Ioannidis JP, Kiel DP and
            Rivadeneira F.
  TITLE     Genome-wide meta-analysis identifies 56 bone mineral density loci
            and reveals 14 loci associated with risk of fracture
  JOURNAL   Nat Genet 44 (5), 491-501 (2012)
   PUBMED   22504420
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY534247.1, BC137104.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000408926.8/ ENSP00000386141.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022731.4 and AY534247.1.
            On May 17, 2019 this sequence version replaced NM_001011720.1.
            Transcript Variant: This variant (1) differs in the 5' UTR compared
            to variant 3. Variants 1, 3 and 4 encode the same isoform (2).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3200
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q13.3"
     gene            1..3200
                     /gene="XKR9"
                     /gene_synonym="hXKR9; XRG9"
                     /note="XK related 9"
                     /db_xref="GeneID:389668"
                     /db_xref="HGNC:HGNC:20937"
     misc_feature    549..551
                     /gene="XKR9"
                     /gene_synonym="hXKR9; XRG9"
                     /note="upstream in-frame stop codon"
     CDS             561..1682
                     /gene="XKR9"
                     /gene_synonym="hXKR9; XRG9"
                     /note="isoform 2 is encoded by transcript variant 1; X Kell
                     blood group precursor-related family, member 9; XK-related
                     protein 9; X-linked Kx blood group related 9; XK, Kell
                     blood group complex subunit-related family, member 9"
                     /codon_start=1
                     /product="XK-related protein 9 isoform 2"
                     /protein_id="NP_001011720.1"
                     /db_xref="CCDS:CCDS34905.1"
                     /db_xref="GeneID:389668"
                     /db_xref="HGNC:HGNC:20937"
                     /translation="MKYTKQNFMMSVLGIIIYVTDLIVDIWVSVRFFHEGQYVFSALAL
                     SFMLFGTLVAQCFSYSWFKADLKKAGQESQHCFLLLHCLQGGVFTRYWFALKRGYHAAF
                     KYDSNTSNFVEEQIDLHKEVIDRVTDLSMLRLFETYLEGCPQLILQLYILLEHGQANFS
                     QYAAIMVSCCAISWSTVDYQVALRKSLPDKKLLNGLCPKITYLFYKLFTLLSWMLSVVL
                     LLFLNVKIALFLLLFLWLLGIIWAFKNNTQFCTCISMEFLYRIVVGFILIFTFFNIKGQ
                     NTKCPMSCYYIVRVLGTLGILTVFWVCPLTIFNPDYFIPISITIVLTLLLGILFLIVYY
                     GSFHPNRSAETKCDEIDGKPVLRECRMRYFLME"
     misc_feature    582..644
                     /gene="XKR9"
                     /gene_synonym="hXKR9; XRG9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH70.1);
                     transmembrane region"
     misc_feature    672..734
                     /gene="XKR9"
                     /gene_synonym="hXKR9; XRG9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH70.1);
                     transmembrane region"
     misc_feature    1056..1118
                     /gene="XKR9"
                     /gene_synonym="hXKR9; XRG9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH70.1);
                     transmembrane region"
     misc_feature    1167..1229
                     /gene="XKR9"
                     /gene_synonym="hXKR9; XRG9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH70.1);
                     transmembrane region"
     misc_feature    1230..1292
                     /gene="XKR9"
                     /gene_synonym="hXKR9; XRG9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH70.1);
                     transmembrane region"
     misc_feature    1326..1388
                     /gene="XKR9"
                     /gene_synonym="hXKR9; XRG9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH70.1);
                     transmembrane region"
     misc_feature    1443..1505
                     /gene="XKR9"
                     /gene_synonym="hXKR9; XRG9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH70.1);
                     transmembrane region"
     misc_feature    1512..1574
                     /gene="XKR9"
                     /gene_synonym="hXKR9; XRG9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5GH70.1);
                     transmembrane region"
     misc_feature    1629..1634
                     /gene="XKR9"
                     /gene_synonym="hXKR9; XRG9"
                     /note="Cleavage, by caspase-3, caspase-6 and caspase-7.
                     /evidence=ECO:0000250|UniProtKB:Q5GH62; propagated from
                     UniProtKB/Swiss-Prot (Q5GH70.1); cleavage site"
     regulatory      1730..1735
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XKR9"
                     /gene_synonym="hXKR9; XRG9"
                     /note="hexamer: AGTAAA"
     polyA_site      1749
                     /gene="XKR9"
                     /gene_synonym="hXKR9; XRG9"
                     /note="major polyA site"
ORIGIN
        1 agaggtcacg tgacgccgcg cgggctgcgc gggcagtggt gggaaggctg gcgcgaggcg
       61 tgaggtggcg tgaggcgaag ctggaatctg cctctgtcac gggggctggt gcctcacggg
      121 tttgtgtcct agacaggcga gtggatccaa gtgggcgaga gacattttaa tctggaagag
      181 tcttgtgatt tgggagacag tgaagaagaa gtaaaatatt cacaagatga agatttttcc
      241 agaagggact ttgagtcaaa gatggctttt tatatttgac aagtcttgtc atctgtaatg
      301 aagatcattg tgaaacagaa gattgattaa agccttgtaa cattggacct agattagaga
      361 tttagaaaag aaagtcaaaa ttagtcactt tagtgttagt gttcccattt cataatattt
      421 attctttctt ctaaatagat ttagggagta gaaattaaaa ttcaatgcta taccaaaggg
      481 tatactaata tttgtttggc tttttttccc tttttgtgag ggagaaaaaa gtagataacg
      541 aaaagctata gtcattcgta atgaaatata ctaaacagaa ttttatgatg tcagttcttg
      601 gcattataat ctacgtaact gatttaattg tggacatatg ggtatctgtc agatttttcc
      661 atgaaggaca gtatgttttt agtgctttag cgttaagctt tatgcttttt ggaacacttg
      721 tggctcagtg ttttagttat tcttggttca aggctgattt aaagaaagca ggccaagaaa
      781 gtcagcattg ttttcttcta cttcattgct tgcaaggagg agtttttaca aggtattggt
      841 ttgccttaaa aaggggttac catgcagctt ttaaatatga cagcaatact agtaacttcg
      901 tggaagaaca aattgatcta cataaagaag ttatagatag agtgactgat ttgagcatgc
      961 tcagactatt tgagacctac ctggaaggct gcccacaact tattcttcaa ctctacattc
     1021 ttctggagca tggacaagcg aatttcagtc agtatgcggc catcatggtc tcttgctgtg
     1081 ctatttcttg gtcaactgtt gattatcaag tagctttaag aaaatccttg cctgacaaaa
     1141 agcttcttaa tggattatgt cccaaaatca catatctctt ttacaagttg tttacattat
     1201 tatcgtggat gctgagtgtt gtacttctac tattcttaaa tgttaagatt gctttatttc
     1261 tgttgttatt tctttggttg ttaggtataa tatgggcatt taaaaacaac acccagtttt
     1321 gtacttgtat aagtatggaa ttcttatata ggattgttgt tggattcatt cttatcttta
     1381 cattttttaa tattaaggga cagaatacca agtgtccaat gtcttgttat tatattgtta
     1441 gggtactggg cactttgggg atattgactg tattctgggt ttgccccctc actattttta
     1501 atccagacta ttttatacct atcagtataa ctatagttct tactcttctt cttggaattc
     1561 tttttcttat tgtttattat gggagttttc acccaaacag aagtgcagaa acaaaatgtg
     1621 atgaaattga tggaaaacca gttctaagag aatgtagaat gagatatttc ctaatggaat
     1681 aagctattca tttatgatat atattttctt atattttgtt tcattggtta gtaaagaaaa
     1741 tgtgtgttat gtgggtgtgt tgtctcttat ttttgccacc tttaatttga aattagttca
     1801 gtgaaatagg agatacatag tagtatttta tttttaaaat taatttctca tttggttttg
     1861 aagatcttga gtactcagat atctttctac tgcctggtag agctgccatc ttgagcctga
     1921 aatataagaa atggtctggt tttcataatg agaaggctgg aattgagctt ccctcccatt
     1981 ttccttgttc ctgaactaat actactgtac ctgttatgga ggactgcaaa gggaagagaa
     2041 aagcagaaca ctgtattatt ttttccttta ttgtcttcag tgcatatatt tgcagttggg
     2101 gacaggttga gtagaggaaa agggaaagaa gggaaagcag aaaacaaatt tttagcatct
     2161 gctgtgcttt catccatgaa atctccaatt cagtaagtgc aaaagagaat tggtgtgcat
     2221 ctgagaggtc tgacatttca ttatttactt atttcctagc ttttctgaat taatgcactc
     2281 ttaacatata attatattaa tcctatttgt gctagaatag ttgtatctaa atcatatttt
     2341 aaaattattt ttatttttaa aaaattatgg taaaaacata taaaatttac catcttaatc
     2401 actttgagtg tacagttcat cagtgttaac tgtattcacc ttgtgcaaca gatctcaagg
     2461 actttttcac cttgtaaaac taagattctc tatttattga acaaatcccc atttcctcct
     2521 tccccaagtc tctctcaact gaaattataa ttttttgttt ctatgagttt gaatacttta
     2581 gataccttgt tgccatggtt tgaatgtgcc ccccagattt catgtgtgtg aaacttaatc
     2641 tccaaatttg tatgttgatg gcatttggaa gtggtgggga ctttgtttat ttatttattt
     2701 ttaatttttt aattttatat tattattatt attattatac tttaaggttt agggtacatg
     2761 tgcacaatgt gcaggttagt tacatatgta tacatgtgcc atgctggtgt gctgcaccca
     2821 ttaactcgtc atttatcatt aggtatatct cctaaagcta tccctccccc ctccccccac
     2881 cccacaacag tccccagagt gtgatgatcc ccttcctgtg tccatgtgtt ctcattgttc
     2941 agttcccacc tatgagtgag aatatgcagt gtttggtttt ttgttcttgc gatagtttac
     3001 tgagaatgat gatttccagc ttcatccatg tccctacaaa ggacatgaac tcatcatttt
     3061 ttatggctgc atagtattcc atggtgtata tgtgccacat tttcttaatc cagtctattg
     3121 ttgttggaca tttgggttgg ttccaagtct ttgctattgt gaatagtgct gcaataaaca
     3181 tacgtgtgca tgtgtcttta
//
LOCUS       NM_001011878             362 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens defensin beta 121 (DEFB121), transcript variant 1,
            mRNA.
ACCESSION   NM_001011878
VERSION     NM_001011878.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 362)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 362)
  AUTHORS   Radhakrishnan Y, Hamil KG, Yenugu S, Young SL, French FS and Hall
            SH.
  TITLE     Identification, characterization, and evolution of a primate
            beta-defensin gene cluster
  JOURNAL   Genes Immun 6 (3), 203-210 (2005)
   PUBMED   15772680
  REMARK    GeneRIF: This gene is thought to encode a peptide that displays
            antimicrobial activity.
REFERENCE   3  (bases 1 to 362)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC130609.1, AY501000.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000376314.3/ ENSP00000417128.1
            Protein has antimicrobial activity :: PMID: 15772680
            RefSeq Select criteria             :: based on longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC130609.1 and AI476463.1.
            On May 17, 2019 this sequence version replaced NM_001011878.2.
            Summary: This gene encodes a member of the beta subfamily of
            defensins. Beta-defensins are antimicrobial peptides that protect
            tissues and organs from infection by a variety of microorganisms.
            This gene is found in a cluster with other beta-defensin genes on
            the long arm of chromosome 20. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Nov 2014].
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..362
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     gene            1..362
                     /gene="DEFB121"
                     /gene_synonym="DEFB21; ESC42RELC"
                     /note="defensin beta 121"
                     /db_xref="GeneID:245934"
                     /db_xref="HGNC:HGNC:18101"
                     /db_xref="MIM:616075"
     CDS             64..294
                     /gene="DEFB121"
                     /gene_synonym="DEFB21; ESC42RELC"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; defensin, beta 21; beta-defensin 121; epididymis
                     secretory sperm binding protein; beta-defensin 21"
                     /codon_start=1
                     /product="beta-defensin 121 isoform 1 precursor"
                     /protein_id="NP_001011878.1"
                     /db_xref="CCDS:CCDS33456.1"
                     /db_xref="GeneID:245934"
                     /db_xref="HGNC:HGNC:18101"
                     /db_xref="MIM:616075"
                     /translation="MKLLLLLLTVTLLLAQVTPVMKCWGKSGRCRTTCKESEVYYILCK
                     TEAKCCVDPKYVPVKPKLTDTNTSLESTSAV"
     sig_peptide     64..108
                     /gene="DEFB121"
                     /gene_synonym="DEFB21; ESC42RELC"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     109..291
                     /gene="DEFB121"
                     /gene_synonym="DEFB21; ESC42RELC"
                     /product="beta-defensin 121 isoform 1"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     15772680]"
ORIGIN
        1 ggagtcctct gtctgtttta ccagttgaga agcctcctat ccctccctga tcattcatca
       61 ttcatgaagc tccttcttct gcttttgact gttactctgc tcctggccca ggtcacccca
      121 gtcatgaaat gttggggcaa gtcaggcagg tgcagaacaa catgtaaaga aagtgaagta
      181 tactatatat tatgcaaaac tgaggctaag tgctgtgtgg atcccaagta tgtacctgta
      241 aaaccaaaat taacagacac aaatacaagc ctggaatcaa cttctgcagt ctgacacctc
      301 tcttccaacc ttgagtctca acatcatggg atcctgcagt tctattaaat cattcttggc
      361 aa
//
LOCUS       NM_001012                778 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S8 (RPS8), mRNA.
ACCESSION   NM_001012
VERSION     NM_001012.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 778)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   2  (bases 1 to 778)
  AUTHORS   Bi N, Sun Y, Lei S, Zeng Z, Zhang Y, Sun C and Yu C.
  TITLE     Identification of 40S ribosomal protein S8 as a novel biomarker for
            alcohol-associated hepatocellular carcinoma using weighted gene
            co-expression network analysis
  JOURNAL   Oncol Rep 44 (2), 611-627 (2020)
   PUBMED   32627011
  REMARK    GeneRIF: Identification of 40S ribosomal protein S8 as a novel
            biomarker for alcoholassociated hepatocellular carcinoma using
            weighted gene coexpression network analysis.
REFERENCE   3  (bases 1 to 778)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 778)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   5  (bases 1 to 778)
  AUTHORS   Anger AM, Armache JP, Berninghausen O, Habeck M, Subklewe M, Wilson
            DN and Beckmann R.
  TITLE     Structures of the human and Drosophila 80S ribosome
  JOURNAL   Nature 497 (7447), 80-85 (2013)
   PUBMED   23636399
REFERENCE   6  (bases 1 to 778)
  AUTHORS   Nicoloso M, Qu LH, Michot B and Bachellerie JP.
  TITLE     Intron-encoded, antisense small nucleolar RNAs: the characterization
            of nine novel species points to their direct role as guides for the
            2'-O-ribose methylation of rRNAs
  JOURNAL   J Mol Biol 260 (2), 178-195 (1996)
   PUBMED   8764399
REFERENCE   7  (bases 1 to 778)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   8  (bases 1 to 778)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 778)
  AUTHORS   Davies B and Fried M.
  TITLE     The structure of the human intron-containing S8 ribosomal protein
            gene and determination of its chromosomal location at 1p32-p34.1
  JOURNAL   Genomics 15 (1), 68-75 (1993)
   PUBMED   8432552
REFERENCE   10  (bases 1 to 778)
  AUTHORS   Pogue-Geile K, Geiser JR, Shu M, Miller C, Wool IG, Meisler AI and
            Pipas JM.
  TITLE     Ribosomal protein genes are overexpressed in colorectal cancer:
            isolation of a cDNA clone encoding the human S3 ribosomal protein
  JOURNAL   Mol Cell Biol 11 (8), 3842-3849 (1991)
   PUBMED   1712897
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.316090.1,
            SRR5189658.4207.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396651.8/ ENSP00000379888.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AL592166.16.
            On Nov 26, 2018 this sequence version replaced NM_001012.1.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S8E family of ribosomal proteins. It is located in the
            cytoplasm. Increased expression of this gene in colorectal tumors
            and colon polyps compared to matched normal colonic mucosa has been
            observed. This gene is co-transcribed with the small nucleolar RNA
            genes U38A, U38B, U39, and U40, which are located in its fourth,
            fifth, first, and second introns, respectively. As is typical for
            genes encoding ribosomal proteins, there are multiple processed
            pseudogenes of this gene dispersed through the genome. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..778
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..778
                     /gene="RPS8"
                     /gene_synonym="eS8; S8"
                     /note="ribosomal protein S8"
                     /db_xref="GeneID:6202"
                     /db_xref="HGNC:HGNC:10441"
                     /db_xref="MIM:600357"
     misc_feature    19..21
                     /gene="RPS8"
                     /gene_synonym="eS8; S8"
                     /note="upstream in-frame stop codon"
     misc_feature    35
                     /gene="RPS8"
                     /gene_synonym="eS8; S8"
                     /note="predominant transcription initiation site"
     CDS             58..684
                     /gene="RPS8"
                     /gene_synonym="eS8; S8"
                     /note="40S ribosomal protein S8; OK/SW-cl.83"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS8"
                     /protein_id="NP_001003.1"
                     /db_xref="CCDS:CCDS513.1"
                     /db_xref="GeneID:6202"
                     /db_xref="HGNC:HGNC:10441"
                     /db_xref="MIM:600357"
                     /translation="MGISRDNWHKRRKTGGKRKPYHKKRKYELGRPAANTKIGPRRIHT
                     VRVRGGNKKYRALRLDVGNFSWGSECCTRKTRIIDVVYNASNNELVRTKTLVKNCIVLI
                     DSTPYRQWYESHYALPLGRKKGAKLTPEEEEILNKKRSKKIQKKYDERKKNAKISSLLE
                     EQFQQGKLLACIASRPGQCGRADGYVLEGKELEFYLRKIKARKGK"
     misc_feature    58..138
                     /gene="RPS8"
                     /gene_synonym="eS8; S8"
                     /note="propagated from UniProtKB/Swiss-Prot (P62241.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    166..168
                     /gene="RPS8"
                     /gene_synonym="eS8; S8"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P62242; propagated from
                     UniProtKB/Swiss-Prot (P62241.2); acetylation site"
     misc_feature    439..441
                     /gene="RPS8"
                     /gene_synonym="eS8; S8"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P62242; propagated from
                     UniProtKB/Swiss-Prot (P62241.2); acetylation site"
     misc_feature    445..447
                     /gene="RPS8"
                     /gene_synonym="eS8; S8"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P62241.2); phosphorylation site"
     misc_feature    535..537
                     /gene="RPS8"
                     /gene_synonym="eS8; S8"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P62241.2); phosphorylation site"
     regulatory      710..715
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS8"
                     /gene_synonym="eS8; S8"
                     /note="hexamer: AATAAA"
     polyA_site      739
                     /gene="RPS8"
                     /gene_synonym="eS8; S8"
                     /note="major polyA site"
     regulatory      753..758
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS8"
                     /gene_synonym="eS8; S8"
                     /note="hexamer: AATATA"
     polyA_site      778
                     /gene="RPS8"
                     /gene_synonym="eS8; S8"
ORIGIN
        1 gttttacaaa ccgaaccgtg aatctttgcg gtttctcttt ccagccagcg ccgagcgatg
       61 ggcatctctc gggacaactg gcacaagcgc cgcaaaaccg ggggcaagag aaagccctac
      121 cacaagaagc ggaagtatga gttggggcgc ccagctgcca acaccaagat tggcccccgc
      181 cgcatccaca cagtccgtgt gcggggaggt aacaagaaat accgtgccct gaggttggac
      241 gtggggaatt tctcctgggg ctcagagtgt tgtactcgta aaacaaggat catcgatgtt
      301 gtctacaatg catctaataa cgagctggtt cgtaccaaga ccctggtgaa gaattgcatc
      361 gtgctcatcg acagcacacc gtaccgacag tggtacgagt cccactatgc gctgcccctg
      421 ggccgcaaga agggagccaa gctgactcct gaggaagaag agattttaaa caaaaaacga
      481 tctaaaaaaa ttcagaagaa atatgatgaa aggaaaaaga atgccaaaat cagcagtctc
      541 ctggaggagc agttccagca gggcaagctt cttgcgtgca tcgcttcaag gccgggacag
      601 tgtggccgag cagatggcta tgtgctagag ggcaaagagt tggagttcta tcttaggaaa
      661 atcaaggccc gcaaaggcaa ataaatcctt gttttgtctt cacccatgta ataaaggtgt
      721 ttattgtttt gttcccacat ttatgttgcc tgaatatatg actgttttct ctgcttta
//
LOCUS       NM_001012264            1631 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens ribonuclease A family member 13 (inactive) (RNASE13),
            mRNA.
ACCESSION   NM_001012264
VERSION     NM_001012264.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1631)
  AUTHORS   Yamada Y, Sakuma J, Takeuchi I, Yasukochi Y, Kato K, Oguri M,
            Fujimaki T, Horibe H, Muramatsu M, Sawabe M, Fujiwara Y, Taniguchi
            Y, Obuchi S, Kawai H, Shinkai S, Mori S, Arai T and Tanaka M.
  TITLE     Identification of EGFLAM, SPATC1L and RNASE13 as novel
            susceptibility loci for aortic aneurysm in Japanese individuals by
            exome-wide association studies
  JOURNAL   Int J Mol Med 39 (5), 1091-1100 (2017)
   PUBMED   28339009
  REMARK    GeneRIF: rs1465567 of EGFLAM and rs113710653 of SPATC1L may be
            susceptibility loci for true aortic aneurysm and rs143881017 of
            RNASE13 may be such a locus for dissecting aortic aneurysm in
            Japanese individuals.
REFERENCE   2  (bases 1 to 1631)
  AUTHORS   Premzl M.
  TITLE     Comparative genomic analysis of eutherian ribonuclease A genes
  JOURNAL   Mol Genet Genomics 289 (2), 161-167 (2014)
   PUBMED   24337645
REFERENCE   3  (bases 1 to 1631)
  AUTHORS   Cho S, Beintema JJ and Zhang J.
  TITLE     The ribonuclease A superfamily of mammals and birds: identifying new
            members and tracing evolutionary histories
  JOURNAL   Genomics 85 (2), 208-220 (2005)
   PUBMED   15676279
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC044831.1, FJ237363.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145893,
            SAMN02400288 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000382951.4/ ENSP00000372410.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL161668.6, BC044831.1 and AY665808.1.
            On Nov 22, 2018 this sequence version replaced NM_001012264.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1631
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1631
                     /gene="RNASE13"
                     /gene_synonym="HEL-S-86p; RAL1"
                     /note="ribonuclease A family member 13 (inactive)"
                     /db_xref="GeneID:440163"
                     /db_xref="HGNC:HGNC:25285"
     misc_feature    62..64
                     /gene="RNASE13"
                     /gene_synonym="HEL-S-86p; RAL1"
                     /note="upstream in-frame stop codon"
     CDS             161..631
                     /gene="RNASE13"
                     /gene_synonym="HEL-S-86p; RAL1"
                     /note="ribonuclease 13; ribonuclease-like protein 13;
                     probable inactive ribonuclease-like protein 13; epididymis
                     secretory sperm binding protein Li 86p; ribonuclease A L1;
                     ribonuclease, RNase A family, 13 (non-active)"
                     /codon_start=1
                     /product="probable inactive ribonuclease-like protein 13
                     precursor"
                     /protein_id="NP_001012264.1"
                     /db_xref="CCDS:CCDS32039.1"
                     /db_xref="GeneID:440163"
                     /db_xref="HGNC:HGNC:25285"
                     /translation="MAPAVTRLLFLQLVLGPTLVMDIKMQIGSRNFYTLSIDYPRVNYP
                     KGFRGYCNGLMSYMRGKMQNSDCPKIHYVIHAPWKAIQKFCKYSDSFCENYNEYCTLTQ
                     DSLPITVCSLSHQQPPTSCYYNSTLTNQKLYLLCSRKYEADPIGIAGLYSGI"
     sig_peptide     161..220
                     /gene="RNASE13"
                     /gene_synonym="HEL-S-86p; RAL1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    536..538
                     /gene="RNASE13"
                     /gene_synonym="HEL-S-86p; RAL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5GAN3.1); glycosylation site"
     regulatory      1610..1615
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNASE13"
                     /gene_synonym="HEL-S-86p; RAL1"
                     /note="hexamer: AATAAA"
     polyA_site      1631
                     /gene="RNASE13"
                     /gene_synonym="HEL-S-86p; RAL1"
                     /note="major polyA site"
ORIGIN
        1 gacattccct cctcccagac tgatttttac ctagaaacct ttctagcctc tcctcatctc
       61 ttgactgtct tggccttggc aagaagaata cacgtcccta cccagctatc ttcagctcct
      121 gtccttcctc ccagctgcca gagaattgtc agcaggagga atggcaccag ctgtgacccg
      181 gctccttttc ctccagcttg ttctggggcc aactctggtc atggacatca agatgcagat
      241 tggcagcagg aacttctata ccttaagcat tgactatccc agggttaact acccaaaggg
      301 tttccggggc tattgtaatg gtctgatgtc ctatatgcga ggcaagatgc aaaattcaga
      361 ttgcccaaag atccattatg tgatacatgc cccttggaag gccatccaga agttctgcaa
      421 gtatagtgac agcttctgtg agaattacaa tgaatactgc acactcaccc aggattccct
      481 ccccatcacg gtctgctccc tgagccacca acagccaccc actagctgct actacaatag
      541 caccctaacc aaccagaagc tctacctact ctgctcccgc aagtatgaag ctgatccaat
      601 aggtatcgct ggtctctatt cgggaattta attcctgagc cactccccaa cctctaccac
      661 cacaggccag ctgtctccat ttccaacact ctgatccctg taacaagact tccttcctga
      721 cttacgaggc aggcagggtc ccctcccaag agaccaggtg ggtgcgaaaa tgtccagggc
      781 tttgatcacc atgcaaagtg gtgctatctt ctaggttctt tccagcttgt ttaccccctc
      841 ttcgccccca cctcctcatc atccttcctc tcccagagac agtaaaaccc acccaagaag
      901 ttgactgtgt ccagttggca gtgactgtcc acccactggg ccagatccta agtcctggat
      961 ggaggcccag ggcctcagct cacaccatgg caacaggcac cagctccgag tctcacctcc
     1021 ccatccccac cagccttctc atgtcagcct cccccagttc ccttataatt ccctccactc
     1081 acccacctac tcaggggata tggctagcta taggaacctc cctgaggccc tcagactcat
     1141 gttagcctca cttccccaca acccccagtt tccagcctgc ttctctctgt gaaatcatgg
     1201 tttctccctt catataactg tcctctcctg cttcctctta ccatggagcc taggactgtc
     1261 tcccccacac tcccaacaac cgtagtcacc ctgccttcct ttttccaacc tctttttctt
     1321 ccagtcttct taccttggct cactggcatt tcaaggtatc ttctctcacc cattccccag
     1381 aggttcctgc ttcccttctc ttccagaagc tcctcccaaa tcccccagac tccagagtct
     1441 gcccctgacc aggcagcgaa tgaggcaggc ccggctctaa tcgaacataa atttctaaaa
     1501 ccacatctga gtatgtaaga tgtaaccatt gggggaaact gggtgaaggg cacacgagcc
     1561 ccctctgtac cattttttgt aacttcctgt caacccataa tcaattcaaa ataaaaagtt
     1621 aataacacac a
//
LOCUS       NM_001012267            8293 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens centromere protein P (CENPP), transcript variant 1,
            mRNA.
ACCESSION   NM_001012267
VERSION     NM_001012267.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8293)
  AUTHORS   Robles-Bolivar P, Bachinger D, Parra-Perez AM, Roman-Naranjo P,
            Escalera-Balsera A, Gallego-Martinez A, Eckhard AH and Lopez-Escamez
            JA.
  TITLE     A novel nonsense variant in the CENPP gene segregates in a Swiss
            family with autosomal dominant low-frequency sensorineural hearing
            loss
  JOURNAL   Eur J Hum Genet 30 (11), 1301-1305 (2022)
   PUBMED   36071244
  REMARK    GeneRIF: A novel nonsense variant in the CENPP gene segregates in a
            Swiss family with autosomal dominant low-frequency sensorineural
            hearing loss.
REFERENCE   2  (bases 1 to 8293)
  AUTHORS   Tian T, Chen L, Dou Z, Yang Z, Gao X, Yuan X, Wang C, Liu R, Shen Z,
            Gui P, Teng M, Meng X, Hill DL, Li L, Zhang X, Liu X, Sun L, Zang J
            and Yao X.
  TITLE     Structural insights into human CCAN complex assembled onto DNA
  JOURNAL   Cell Discov 8 (1), 90 (2022)
   PUBMED   36085283
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 8293)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 8293)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 8293)
  AUTHORS   Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA,
            Weisswange I, Mansfeld J, Buchholz F, Hyman AA and Mann M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   6  (bases 1 to 8293)
  AUTHORS   Eskat A, Deng W, Hofmeister A, Rudolphi S, Emmerth S, Hellwig D,
            Ulbricht T, Doring V, Bancroft JM, McAinsh AD, Cardoso MC, Meraldi
            P, Hoischen C, Leonhardt H and Diekmann S.
  TITLE     Step-wise assembly, maturation and dynamic behavior of the human
            CENP-P/O/R/Q/U kinetochore sub-complex
  JOURNAL   PLoS One 7 (9), e44717 (2012)
   PUBMED   23028590
  REMARK    GeneRIF: Data propose that CENP-P/O/R/Q/U self-assembles on
            kinetochores with varying stoichiometry and undergoes a pre-mitotic
            maturation step that could be important for kinetochores switching
            into the correct conformation for microtubule-attachment.
REFERENCE   7  (bases 1 to 8293)
  AUTHORS   Okada M, Cheeseman IM, Hori T, Okawa K, McLeod IX, Yates JR 3rd,
            Desai A and Fukagawa T.
  TITLE     The CENP-H-I complex is required for the efficient incorporation of
            newly synthesized CENP-A into centromeres
  JOURNAL   Nat Cell Biol 8 (5), 446-457 (2006)
   PUBMED   16622420
REFERENCE   8  (bases 1 to 8293)
  AUTHORS   Foltz DR, Jansen LE, Black BE, Bailey AO, Yates JR 3rd and Cleveland
            DW.
  TITLE     The human CENP-A centromeric nucleosome-associated complex
  JOURNAL   Nat Cell Biol 8 (5), 458-469 (2006)
   PUBMED   16622419
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.4816.1, SRR1660807.9119.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375587.8/ ENSP00000364737.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC071726.1, AL833701.1 and AL157827.17.
            On Nov 23, 2018 this sequence version replaced NM_001012267.2.
            Summary: CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM
            300065)-associated centromeric complex that targets CENPA (MIM
            117139) to centromeres and is required for proper kinetochore
            function and mitotic progression (Okada et al., 2006 [PubMed
            16622420]).[supplied by OMIM, Mar 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8293
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.31"
     gene            1..8293
                     /gene="CENPP"
                     /gene_synonym="CENP-P"
                     /note="centromere protein P"
                     /db_xref="GeneID:401541"
                     /db_xref="HGNC:HGNC:32933"
                     /db_xref="MIM:611505"
     misc_feature    5..7
                     /gene="CENPP"
                     /gene_synonym="CENP-P"
                     /note="upstream in-frame stop codon"
     CDS             47..913
                     /gene="CENPP"
                     /gene_synonym="CENP-P"
                     /note="isoform a is encoded by transcript variant 1"
                     /codon_start=1
                     /product="centromere protein P isoform a"
                     /protein_id="NP_001012267.1"
                     /db_xref="CCDS:CCDS35063.1"
                     /db_xref="GeneID:401541"
                     /db_xref="HGNC:HGNC:32933"
                     /db_xref="MIM:611505"
                     /translation="MDAELAEVRALQAEIAALRRACEDPPAPWEEKSRVQKSFQAIHQF
                     NLEGWKSSKDLKNQLGHLESELSFLSTLTGINIRNHSKQTEDLTSTEMTEKSIRKVLQR
                     HRLSGNCHMVTFQLEFQILEIQNKERLSSAVTDLNIIMEPTECSELSEFVSRAEERKDL
                     FMFFRSLHFFVEWFEYRKRTFKHLKEKYPDAVYLSEGPSSCSMGIRSASRPGFELVIVW
                     RIQIDEDGKVFPKLDLLTKVPQRALELDKNRAIETAPLSFRTLVGLLGIEAALESLIKS
                     LCAEENN"
     misc_feature    158..160
                     /gene="CENPP"
                     /gene_synonym="CENP-P"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6IPU0.1); phosphorylation site"
     regulatory      1093..1098
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CENPP"
                     /gene_synonym="CENP-P"
                     /note="hexamer: TATAAA"
     polyA_site      1111
                     /gene="CENPP"
                     /gene_synonym="CENP-P"
                     /note="major polyA site"
     regulatory      2519..2524
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CENPP"
                     /gene_synonym="CENP-P"
                     /note="hexamer: AATAAA"
     polyA_site      2537
                     /gene="CENPP"
                     /gene_synonym="CENP-P"
                     /note="major polyA site"
     regulatory      8272..8277
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CENPP"
                     /gene_synonym="CENP-P"
                     /note="hexamer: AATAAA"
     polyA_site      8293
                     /gene="CENPP"
                     /gene_synonym="CENP-P"
                     /note="major polyA site"
ORIGIN
        1 ggagtgacag ctgcgctgcc ggcccggctg cggtcagcaa cgcgccatgg acgcagagct
       61 ggcagaggtg cgcgccttgc aagctgagat cgcggccctg cggcgagcgt gtgaggaccc
      121 accggcgccc tgggaagaga agtcccgagt ccaaaaatct tttcaagcca tacaccaatt
      181 caatttggaa ggatggaagt cttcaaaaga tctgaaaaat cagcttggac atttagaatc
      241 agaactttca tttctaagta cgcttactgg catcaatata agaaatcact ccaagcagac
      301 agaagaccta acaagcactg agatgacaga aaagagtatt agaaaagttc tacagagaca
      361 cagattatca ggaaattgcc acatggttac atttcaactt gaatttcaga ttctggaaat
      421 tcagaataag gagagattat cttctgctgt tactgacctc aacataataa tggagcccac
      481 agaatgctca gaattaagtg aatttgtgtc tagagcagaa gagagaaaag atctgttcat
      541 gtttttccga agcctgcatt tttttgtgga gtggtttgaa tatcgtaagc gcacgtttaa
      601 acatctcaag gaaaagtacc cagatgccgt gtacctctcg gaggggccct cctcctgctc
      661 catggggatc cgcagcgcca gccggccagg gtttgaatta gtcattgttt ggaggataca
      721 aatagatgaa gatgggaagg tttttccaaa gctggatctt ctcaccaaag tcccacagcg
      781 agccctggag ctggacaaga acagagccat agaaactgct cctctcagct tccgaaccct
      841 ggtaggactg cttggaatcg aagctgctct ggaaagcctg ataaaatcgc tttgtgcaga
      901 ggagaacaac tagttccaaa acagtgaacg tggaggatga agatgctgcg tggaggaaca
      961 tgcaatttta ttcaatataa acatttgcta ttttctgctt agaaaccaca ccctgaagac
     1021 gtgctgtcta tgcagttatg gcacattata tggaaactct catgacatga aaaataaata
     1081 caactagtta agtataaaat gccaaataaa agtgacacgt acaatgtggt ttataaaaat
     1141 aagcttaaca tctgagaaaa tgtaccaagt ggttgtgtgt cctcagatgt gtggggagga
     1201 tccatccccc acccactgca gcctcacacc gagtccacct tggacatggt ggccacatta
     1261 ctcagctggg agaagccacc cttatcctgg ttcctgcctc ctgggggctc tggagacgga
     1321 tgcctatggc gcctcatctt taaactgtcc ttagtagccc aggggagcca caccctcact
     1381 ccctgcctcc ccccggtccg catggtggca ccgtgaggca gtctcagcaa gtcctcatgc
     1441 tgttcttggt cttccacaag aaagtgaagc tgtcagctta ataacaagaa tggcctaaga
     1501 cagcaaagac agcactgttc ctgggctggg acgcaaggaa tgaggtcctt tatgaaagaa
     1561 agacccccct gcatagccta agtgctatat cgatcgtccc ggatgtgcct taagaaccgt
     1621 gacctcatca gtcgcccatt tagcattgtt aagatctgtg aacgcgtgtt gtctcaaacc
     1681 agtcagggcc gtcatgacta cgcagcagca gcagtttcca agacgggcca gaaacgcatc
     1741 cacagcagtg gcacccgcgg ctcaggggct cctcacagcc cgggctggtg ggagccaaga
     1801 ccagacagag tgggggtctc catctgtttt ctcttctccc tcaaatacag gctgttttca
     1861 tcgtgtctag tccagccctg tctgggccct gtgctaggca ataactcttg cagccctgaa
     1921 ggacctaggg agcccagccc accttcccac ggactggggt tccctcacat gtgcacttga
     1981 acccaggacc cagcatcctc cacacaccgt gacaatgggc aaaatcatcc caaaccaggc
     2041 tgccccagcc ccagcccagc aacagtgaac tcccttgggt caagacagta ctcaacggcc
     2101 actacctcca cgcttcccag agcctgcggc ttgtccgtga gctccgtgca cttcaccaaa
     2161 gcccccatcc cagcacacag gacccgtgtg tatgagacgg tgtcattgga agtgagaaga
     2221 aaacagtaaa agtgtccagt tagataagta tctttttgca cctctgagag tagaattaga
     2281 agtaaatatg acagaattga acaataaatt ctagaagagt tgccttgatt caaacaagta
     2341 taattctcaa gttatcacaa aatttcccac aaaaatttac aatcagcaaa atagtttcct
     2401 tatttctcat gtatcatttt catataattc catggtttca ctaatattat atgttacaat
     2461 aagcctccat tagtccctca aaacgatgat ataaataagt ctgtacaacc tagcatagaa
     2521 taaaaaactg aaaccaagat tcccaacgtt tttcatagca gccgggcaca ctttggtgac
     2581 cccaacgaga accctctcgg cagcagccag gagctgttca ccttccagaa gcagggcctg
     2641 tggcagccta acagggagag gccacggggc ccaaaaacgc aacacgtctc aaggcaaacc
     2701 cgagggagga acttggtctg ggaggaagag agaactcgct cctcaaccac cccagacact
     2761 ggagtgtcag gaaagcactg agctgttggg gcacactgcc cagcccggcc acagcagctc
     2821 agccagtcac agctccacct ccaacttcta cagcagcaat ttttagtggg aaagaacagc
     2881 tcatctcccc ctcatgtgaa agattaaatt gtaaagcaaa aaaaaaaagg tcaatgctcg
     2941 catgagtggt gtccatcctg acctgagcct tgcgctccct gctgccctgt gtggaactgt
     3001 gggcttcagc acctccacag ggaccctgag tctacactgc tcagaatcgg catctgcgcg
     3061 accacgaggt cacgctgtgc agcagggaac cacctaaaaa cctgtgttga tatgtggctt
     3121 gcactgaaaa agtgaccatg taactcagct gggggaagtt ccagtagtat ccatgttttc
     3181 ttaaaagtcc aaactgtaaa atgtatgtga caattcaagt tttctatgtt aggagtctgg
     3241 tggtagcaga tccaaacctt gggtcttaga ataaggcttt tcgcattaga gaatcagaca
     3301 tgagccctgg ttgggaaaga agaactatcc agaacgtctt cccagggctt aacggacact
     3361 tccattttaa gagtgtgagc agcttcctgg gacacagcac tcacttccta cattccttgt
     3421 ccaggaagtt gtttctagtg ctcttcaatt ccatgtctcc aagaggcaat cccacctcaa
     3481 aaggggttaa aagcaaaaac attcacaacc aaaggtcacc caacacaaca gaaaatatct
     3541 ctatcattca gccttcacat tatgttcaag tttcaaagac actgcaggga aagagttaga
     3601 ccttgtggag aactaatgtg caatcttcgc tttccttgaa ccgagtcgac atcacggcgt
     3661 tgtctttggc acgtacagtc tttgaataat agttgacgat cttgccgtcc agtttatact
     3721 gatggggaat gctctcgtag ggcttgaggt caaggtccag cacagacacg gaaaaggcaa
     3781 acctggacct cgatgaaggg acgacaggcc tttgatcaga gctgcaagta aaaagtacca
     3841 tttcaggata cacaagcccc ccattcattt ccctccctcc cgttctctct ccctttcttc
     3901 tttcaactag tatgttttta tgttttttct ttgacttctg caaagttaga taaatcaatc
     3961 tcttttaaaa gagaagtgaa tggcctcaca ccccagctca caaagagcac tcgttctgtg
     4021 cacctgtgat ctgtgcgtgt gacagctgtc tgtgccggct gtgtgcacca gcgtgcaaag
     4081 cttcctcagg ccagtgcacc ccaccatacc aggcgagaga gggttaaagg actgaaagat
     4141 ggaaaagtaa ttatgtggaa catgtgagcg atgttccccc agcccagtgg tataaacgaa
     4201 cgctgaaaaa tcactttatc atgagccaag tattacaaaa cccaacaaaa agtaaaaagt
     4261 agatctggcc attccagcgc caaatggatg gaatgtcgac aagccttctt ctttgcctct
     4321 cctgtctgct gagaaacgca agctcctttg gttcacattt gaagagatct ggtttctcat
     4381 tttattctca aattttatct tcagtccttt gtattttgct tctcagggct tagttttgtg
     4441 gttttaacct cagaagtcgt gtgcttataa caagatgtga ttaattattt gccctgaaaa
     4501 acacatttag gattactccg agtcctgagc tctgactgct gtgtgtcccg cttttcgtct
     4561 ccgggcactc agcgcacagc actcaagaca ctggctaaac aagtgaccta agctcagttc
     4621 agtccaagag aagtatcctg ggttctggtg tcccaatgtt tactacgctt tgagatttag
     4681 aaatcaacaa gccaaacccc aacttcaaaa gctcctgccg aggagaggaa atactgatca
     4741 gcacgtccct gctctgacgc tgctcaccat ggccttggcg ctcactgctg ccctgcccca
     4801 gaatcctgtt tgtagaaaaa acaaatccct gactaagctg ctggggtaag taactattct
     4861 catctgaaga gtaaacagca aataactcat ttacaaatta aggtcatgag tctcgctcca
     4921 gaagctggag tgtgcctgca gctcatccca aggggccaca ttttattggg agaacctcag
     4981 aagcccaagg tactgctcag ttctgaggcc tgagacccaa gctgggtgca cctgggctgg
     5041 aacagtcaca tccccagccc atgactaggg ttacgtattt taaaggacac cccaatttct
     5101 cagaagcagc acctgacaag accatgggtg taaagacagg aaggatgttc caggcagctc
     5161 ccggggaggg tctgactacc tgggtcaacc acaagctagc tccatgggaa ccaatggcag
     5221 tgaccagcgg gcaccagctc ctgacacaga aatgctcttc ttccccctca gtaccccgga
     5281 ggccaagact gggcaagagg ccccagggac acacctgtcc cttgtgccac aagtgtgccc
     5341 tctagcagcc ttggagaatg aggctcaggt ggccttctgg ctgcaggggg gcagcccttg
     5401 cctggaaggc cgttctccag gacactgacc cgctgggggt taccggggga ccagcagcct
     5461 ccaagggtgc tggggatcgg ggtggagaag ccaaggccgc acactgtgtt tcaaatggga
     5521 ggtcgagagg agcatcaggg tttaggccgg gaagctgtgg cagctctctc cacagttcca
     5581 aattcccaaa gggacaaagc tctgcagcga caggaaggca gatccaactt gagacatttt
     5641 cctttatgac agggcagaaa cagtagtgca gagctggaga agcctttatt ttagggggtg
     5701 taagaagttt aaatgtggtc aatctatctg tgagctgcaa attagtctag ggatctaaat
     5761 ttagtctcag gtctaccagg tatctcaaga cgccaagatg actcatgata aatcccagcc
     5821 ttagtttgtc cctaggcctc tagagcacca cagttactgg aacttcacag gtgcggccac
     5881 tgcgcacacc ttcctggaag caggcccagc cccacacgcc atgttctcgg aggagaagcc
     5941 ttctctgaga tcctctcctt ttgttgagaa aggcctggct agagtgcttt gtgcaggatg
     6001 gttccagtgc ctacacccta ggtctgagaa gccacatggc tcagtgcctt caggacatgc
     6061 cctcccctcc cctcctagtg tcgtttctgc tgagcagctg gtcgtaagga cccgggcctt
     6121 cagctttccc cgcatgctgg ctttccaatt tgacatcact gaccaggcac taagagattc
     6181 ccaggtgcta gacgaggtga gtaacatgtc tgtccttcag cggcctttca cagcccacct
     6241 aagggcaccc tgcatccaag cacatttcca ttgcccagct gcatccttgg tcggggggct
     6301 gctgaacagt ggtatcttcg tgggttttct ctcatcgaac accaccagct taatccagtt
     6361 aaggaattcc tcataactta gccctgtagg tatttcctta ggggataaca ggagttttca
     6421 actaaataga acaacctttt ttctacttca gttagcccta taatgttcct cagtatttca
     6481 tattggaaag taaacaattc tgtgcctgcc agggaacagg aatcctggga actgtttagt
     6541 tcaaaagcac cgggaaagtg agtggctggc agccagcaac caaggtcatc ttgacccagg
     6601 aacacatgtt agaagaatgt ggaacattcc gcaaatactg ggtgcagggt ttagcacccc
     6661 tgaagatcgg tgatggagat gctgtctaac gactatgaga ttatcagttt catcccgaat
     6721 tcccagaaac agaggggact ggacaaaact agtgacatta gggagagggg cggcacatag
     6781 gctggttatt cagaagagga agcagaatga atgcgcgcct cacaggcttt caaatgactg
     6841 tggtggtaaa aaggcaggtg cgccatgctg ccactgtggg agaccgagga acaagggcca
     6901 caggtaccca cacatctcag gggctggctt tctttgaggg aatgcaatgg gcagctcact
     6961 gtccacattg tttctgagct cttgggagta ttttcttaga aaacagtaac tttcaatgta
     7021 ctaacaatcc ttttaagtta ttctccataa atctgtcttt tgactgaatt acaagcttct
     7081 agagggcgag agttagtaag ccccatgatg tcacataggc caaggaagtt atgtcactcc
     7141 gccatggagt ctctaaatat ggggaaacca actatcctat taacaattca ccaactgtcc
     7201 ataaaacccc gttagaccca ggctgcatgc cttgcagtgg gggcctcacc tggcatcctg
     7261 cagacaggga gacagtgcaa tcatgatgga gcagtccttg gcagtcatgg cgacgcggta
     7321 ctgctgcacc tgcaggggcg ggaaagatca gctccaggtc acacaggaag cctctgcccc
     7381 cccacacaac cttccttccc agtagccaag tgtgggaact gcttcctgcc tcagaacctg
     7441 agggtgggat taggagcgag ggccacggtg agcacgggcg tcaggaggtc gccctgtgag
     7501 agcacctggg ccagccctca gtgccacggg gctgctcaga ggccagcacc gccccctgac
     7561 ctctcacggc aagcagtgtg ggaccccgac tccagaccct gagacggatg atctgtcttc
     7621 agcaaggtca ccacagtcgg cctttggaag gaaaagcagt aagccacctg agccccgcat
     7681 gttggccaca ctcagagtat caagtgagta tcactcgaca cctgcaagga gagcgcaggg
     7741 ggtgttcagc aaggcatcgc ttagaacgac attccctccg gaacatcata cagccaccag
     7801 agacaacggc agacggccac ccttctacag gctgtgcatg tgttaacttg ctccaccctc
     7861 acagcagccc aacagggcag cacggccggc gtcccacttt acagacaagc aacagacaca
     7921 gacatcactt gtctgtcatg ccctgcttgt caatggcaag gcagggactc aaacccggta
     7981 cgctggctct gacatttaca ctcttcaaca catgctccaa gctatgtggg tctgtccata
     8041 ctgaccaggg acagctcaac acacaccaca ctgtcagagt cgacatacgt aaagctgtac
     8101 atgtgcacat gtgtgtgacg cgggcaggga gaaaggtgaa ggacaggcac cacaatgctc
     8161 acaactgtct cctctacaga gcagaatgtg aggcactctc tcctcttcct tctttggact
     8221 ttcatatatg gtttgcattg ttttagatgg catagctctc gctttcacaa aaataaacag
     8281 ttgtaaaaga aaa
//
LOCUS       NM_001012276            1558 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.
ACCESSION   NM_001012276
VERSION     NM_001012276.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1558)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (bases 1 to 1558)
  AUTHORS   Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A,
            Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C,
            Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K,
            Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C,
            Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell
            RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G,
            Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye
            J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V,
            Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M,
            Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J,
            French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM,
            Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S,
            Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD,
            Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood
            J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa
            M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S,
            Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R,
            Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S,
            Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K,
            Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan
            S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G,
            Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce
            CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans
            A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL,
            Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z,
            Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R,
            Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S,
            Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD,
            Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF,
            Pandian RD, Porter KM and Prigmore E.
  TITLE     The DNA sequence and biological annotation of human chromosome 1
  JOURNAL   Nature 441 (7091), 315-321 (2006)
   PUBMED   16710414
  REMARK    Erratum:[Nature. 2006 Oct 26;443(7114):1013. Banerjee, R [added];
            Bryant, SP [added]; Burford, DC [added]; Burrill, WDH [added];
            Clegg, SM [added]; Dhami, P [added]; Dovey, O [added]; Faulkner, LM
            [added]; Gribble, SM [added]; Langford, CF [added]; Pandian, RD
            [added]; Porter, KM [added]; Prigmore, E]
REFERENCE   3  (bases 1 to 1558)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz
            TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha
            SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA,
            McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley
            KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM,
            Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan
            A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko
            Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC,
            Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS,
            Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones
            SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC140755.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968968, SAMEA2145313
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000357367.7/ ENSP00000349931.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC244216.2.
            On Apr 8, 2014 this sequence version replaced NM_001012276.2.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1558
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..1558
                     /gene="PRAMEF8"
                     /gene_synonym="PRAMEF24"
                     /note="PRAME family member 8"
                     /db_xref="GeneID:391002"
                     /db_xref="HGNC:HGNC:24074"
     misc_feature    40..42
                     /gene="PRAMEF8"
                     /gene_synonym="PRAMEF24"
                     /note="upstream in-frame stop codon"
     CDS             67..1491
                     /gene="PRAMEF8"
                     /gene_synonym="PRAMEF24"
                     /note="putative PRAME family member 24"
                     /codon_start=1
                     /product="PRAME family member 8"
                     /protein_id="NP_001012276.2"
                     /db_xref="CCDS:CCDS72709.1"
                     /db_xref="GeneID:391002"
                     /db_xref="HGNC:HGNC:24074"
                     /translation="MSIRAPPRLLELARQRLLRDQALAISTMEELPRELFPTLFMEAFS
                     RRRCETLKTMVQAWPFTRLPLGSLMKSPHLESLKSVLEGVDVLLTQEVRPRQSKLQVLD
                     LRNVDENFCDIFSGATASFPEALSQKQTADNCPGTGRQQPFMVFIDLCLKNRTLDECLT
                     HLLEWGKQRKGLLHVCCKELQVFGMPIHSIIEVLNMVELDCIQEVEVCCPWELSTLVKF
                     APYLGQMRNLRKLVLFNIRASACIPPDNKGQFIARFTSQFLKLDYFQNLSMHSVSFLEG
                     HLDQLLRCLQASLEMVVMTDCLLSESDLKHLSWCPSIRQLKELDLRGVTLTHFSPEPLT
                     GLLEQVVATLQTLDLEDCGIMDSQLSAILPVLSRCSQLSTFSFCGNLISMAALENLLRH
                     TVGLSKLSLELYPAPLESYDTQGALCWGRFAELGAELMNTLRDLRQPKIIVFCTVPCPR
                     CGIRASYDLEPSHCLC"
     misc_feature    355..432
                     /gene="PRAMEF8"
                     /gene_synonym="PRAMEF24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2);
                     Region: LRR 1, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    595..669
                     /gene="PRAMEF8"
                     /gene_synonym="PRAMEF24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2);
                     Region: LRR 2, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    670..750
                     /gene="PRAMEF8"
                     /gene_synonym="PRAMEF24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2);
                     Region: LRR 3, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    751..858
                     /gene="PRAMEF8"
                     /gene_synonym="PRAMEF24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2);
                     Region: LRR 4, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    859..936
                     /gene="PRAMEF8"
                     /gene_synonym="PRAMEF24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2);
                     Region: LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    937..1032
                     /gene="PRAMEF8"
                     /gene_synonym="PRAMEF24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2);
                     Region: LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1033..1089
                     /gene="PRAMEF8"
                     /gene_synonym="PRAMEF24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2);
                     Region: LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1105..1188
                     /gene="PRAMEF8"
                     /gene_synonym="PRAMEF24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2);
                     Region: LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1189..1263
                     /gene="PRAMEF8"
                     /gene_synonym="PRAMEF24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2);
                     Region: LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
ORIGIN
        1 tctgagagat cccagcaccc tacaaactga gtccagatct gagttttccc ttgcagattc
       61 atcaagatga gcatcagggc cccacccaga ctcctggagc tggcaaggca gaggctgctg
      121 agggaccagg ccttggccat ctccaccatg gaggagctgc ccagggagct cttccccaca
      181 ctgttcatgg aggccttcag caggagacgc tgtgaaaccc tgaaaacaat ggtgcaggcc
      241 tggcctttca cccgcctccc tctagggtcc ctgatgaagt cgcctcatct ggagtcatta
      301 aaatctgtgc tggaaggggt tgatgtgctg ttgacccaag aggttcgccc caggcagtca
      361 aaacttcaag tgctggactt gaggaatgtg gatgagaact tctgcgacat attttctgga
      421 gctactgcat ccttcccgga ggctctgagt cagaagcaaa cagcagataa ctgtccaggg
      481 acaggcaggc agcagccatt catggtgttc atagaccttt gtctcaagaa caggacacta
      541 gatgaatgcc tcacccacct cttagagtgg ggcaagcaga gaaaaggctt actgcatgtg
      601 tgttgcaagg agctgcaggt ttttggaatg cccatccaca gtatcataga ggtcctgaac
      661 atggtggagc ttgactgtat ccaggaggtg gaagtgtgct gcccctggga gctgtccact
      721 cttgtgaagt ttgcccctta cctgggccag atgaggaatc tccgcaaact tgttctcttc
      781 aacatccgtg catctgcctg cattccccca gacaacaagg ggcagttcat tgcccgattc
      841 acctctcagt tcctcaagct ggactatttc cagaatctgt ctatgcactc cgtctctttc
      901 ctcgaaggcc acctggacca gctgctcagg tgtctccagg cctccttgga gatggtcgtt
      961 atgaccgact gcctgctgtc agagtcggac ttgaagcatc tctcttggtg cccgagcatc
     1021 cgtcaattaa aggagctgga cctgaggggt gtcacgctga cccatttcag ccctgagccc
     1081 ctcacaggtc tgctggagca agttgtggcc accctgcaga ccctggactt agaggactgt
     1141 gggatcatgg attcccaact cagcgccatc ctgcctgtcc tgagccgctg ctcccagctc
     1201 agcaccttca gcttctgtgg gaacctcatc tccatggctg cccttgagaa cctgctgcgc
     1261 cacaccgtcg ggctgagcaa gctaagcctg gagctgtatc ctgcccctct ggagagttat
     1321 gacacccagg gagctctctg ctgggggaga tttgctgaac ttggggctga gctgatgaac
     1381 acactgaggg acttaaggca gcccaagatc attgtgttct gcaccgtccc ctgccctcgc
     1441 tgtggcatca gggcctccta tgacctggag cccagtcact gcctctgttg aatgcctgcc
     1501 atcagggtgg atatatttca agctttcttc tggtcatttc ggagctgaaa cctaggcc
//
LOCUS       NM_001012277            1866 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens PRAME family member 7 (PRAMEF7), mRNA.
ACCESSION   NM_001012277
VERSION     NM_001012277.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1866)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (bases 1 to 1866)
  AUTHORS   Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A,
            Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C,
            Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K,
            Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C,
            Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell
            RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G,
            Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye
            J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V,
            Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M,
            Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J,
            French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM,
            Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S,
            Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD,
            Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood
            J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa
            M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S,
            Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R,
            Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S,
            Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K,
            Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan
            S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G,
            Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce
            CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans
            A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL,
            Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z,
            Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R,
            Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S,
            Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD,
            Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF,
            Pandian RD, Porter KM and Prigmore E.
  TITLE     The DNA sequence and biological annotation of human chromosome 1
  JOURNAL   Nature 441 (7091), 315-321 (2006)
   PUBMED   16710414
  REMARK    Erratum:[Nature. 2006 Oct 26;443(7114):1013. Banerjee, R [added];
            Bryant, SP [added]; Burford, DC [added]; Burrill, WDH [added];
            Clegg, SM [added]; Dhami, P [added]; Dovey, O [added]; Faulkner, LM
            [added]; Gribble, SM [added]; Langford, CF [added]; Pandian, RD
            [added]; Porter, KM [added]; Prigmore, E]
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1968968, SAMEA2145743
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000697200.1/ ENSP00000513184.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC245034.2.
            On Sep 9, 2021 this sequence version replaced NM_001012277.4.
FEATURES             Location/Qualifiers
     source          1..1866
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..1866
                     /gene="PRAMEF7"
                     /note="PRAME family member 7"
                     /db_xref="GeneID:441871"
                     /db_xref="HGNC:HGNC:28415"
     misc_feature    77..79
                     /gene="PRAMEF7"
                     /note="upstream in-frame stop codon"
     CDS             104..1528
                     /gene="PRAMEF7"
                     /codon_start=1
                     /product="PRAME family member 7"
                     /protein_id="NP_001012277.2"
                     /db_xref="CCDS:CCDS30593.1"
                     /db_xref="GeneID:441871"
                     /db_xref="HGNC:HGNC:28415"
                     /translation="MSIRAPPRLLELARQRLLRDQALAISTMEELPRELFPTLFMEAFS
                     RRRCETLKTMVQAWPFTRLPLGSLMKSPHLESLKSVLEGVDVLLTQEVRPRQSKLQVLD
                     LRNVDENFCDIFSGATASFPEALSQKQTADNCPGTGRQQPFMVFIDLCLKNRTLDECLT
                     HLLEWGKQRKGLLHVCCKELQVFGMPIHSIIEVLNMVELDCIQEVEVCCPWELSTLVKF
                     APYLGQMRNLRKLVLFNIRASACIPPDNKGQFIARFTSQFLKLDYFQNLSMHSVSFLEG
                     HLDQLLRCLQASLEMVVMTDCLLSESDLKHLSWCPSIRQLKELDLRGVTLTHFSPEPLT
                     GLLEQAVATLQTLDLEDCGIMDSQLSAILPVLSRCSQLSTFSFCGNLISMAALENLLRH
                     TVGLSKLSLELYPAPLESYDTQGALCWGRFAELGAELMNTLRDLRQPKIIVFCTVPCPR
                     CGIRASYDLEPSHCLC"
     misc_feature    392..469
                     /gene="PRAMEF7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2);
                     Region: LRR 1, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    632..706
                     /gene="PRAMEF7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2);
                     Region: LRR 2, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    707..787
                     /gene="PRAMEF7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2);
                     Region: LRR 3, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    788..895
                     /gene="PRAMEF7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2);
                     Region: LRR 4, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    896..973
                     /gene="PRAMEF7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2);
                     Region: LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    974..1069
                     /gene="PRAMEF7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2);
                     Region: LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1070..1126
                     /gene="PRAMEF7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2);
                     Region: LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1142..1225
                     /gene="PRAMEF7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2);
                     Region: LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1226..1300
                     /gene="PRAMEF7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2);
                     Region: LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
ORIGIN
        1 acccaaagcc ctggtgcctg gaactactgc ttgattctct gagagatccc agcaccctac
       61 aaactgagtc cagatctgag ttttcccttg cagattcatc aagatgagca tcagggcccc
      121 acccagactc ctggagctgg caaggcagag gctgctgagg gaccaggcct tggccatctc
      181 caccatggag gagctgccca gggagctctt ccccacgctg ttcatggagg ccttcagcag
      241 gagacgctgt gaaaccctga aaacaatggt gcaggcctgg cctttcaccc gcctccctct
      301 agggtccctg atgaagtcgc ctcatctgga gtcattaaaa tctgtgctgg aaggggttga
      361 tgtgctgttg acccaagagg ttcgccccag gcagtcaaaa cttcaagtgc tggacttgag
      421 gaatgtggat gagaacttct gcgacatatt ttctggagct actgcatcct tcccggaggc
      481 tctgagtcag aagcaaacag cagataactg tccagggaca ggcaggcagc agccattcat
      541 ggtgttcata gacctttgtc tcaagaacag gacactagat gaatgcctca cccacctctt
      601 agagtggggc aagcagagaa aaggcttact gcatgtgtgt tgcaaggagc tgcaggtttt
      661 tggaatgccc atccacagta tcatagaggt cctgaacatg gtggagcttg actgtatcca
      721 ggaggtggaa gtgtgctgcc cctgggagct gtccactctt gtgaagtttg ccccttacct
      781 gggccagatg aggaatctcc gcaaacttgt tctcttcaac atccgtgcat ctgcctgcat
      841 tcccccagac aacaaggggc agttcattgc ccgattcacc tctcagttcc tcaagctgga
      901 ctatttccag aatctgtcta tgcactccgt ctctttcctc gaaggccacc tggaccagct
      961 gctcaggtgt ctccaggcct ccttggagat ggtcgttatg accgactgcc tgctgtcaga
     1021 gtcagacttg aagcatctct cttggtgccc gagcatccgt caattaaagg agctggacct
     1081 gaggggtgtc acgctgaccc atttcagccc tgagcccctc acaggtctgc tggagcaagc
     1141 tgtggccacc ctgcagaccc tggacttaga ggactgtggg atcatggatt cccaactcag
     1201 cgccatcctg cctgtcctga gccgctgctc ccagctcagc accttcagct tctgtgggaa
     1261 cctcatctcc atggctgccc ttgagaacct gctgcgccac accgtcgggc tgagcaagct
     1321 aagcctggag ctgtatcctg cccctctgga gagttatgac acccagggtg ctctctgctg
     1381 ggggagattt gctgaacttg gggctgagct gatgaacaca ctgagggact taaggcagcc
     1441 caagatcatt gtgttctgca ccgtcccctg ccctcgctgt ggcatcaggg cctcctatga
     1501 cctggagccc agtcactgcc tctgttgaat gcctgccatc agggtggata tatttcaagc
     1561 tttcttctgg tcatttcgga gctgaaacct aggccatgag tgcatgttaa agggagcaca
     1621 gacccatcgt ttcaaatgcc tcctcagtgt gaatgggaaa ggaatgagga tgcaggaggg
     1681 gcaggactgg gggaaaagtt gacttggagt ggatgggctc tttagagacc tgtgtcccag
     1741 agaatcagaa atgggaatct gaattgctag agtgagaatc agggaggaga gacacatgag
     1801 agggttaccc ctgcacagat ggttgtaaag taacagtcag aaataaaggg aaactgagtg
     1861 gaaact
//
LOCUS       NM_001012301            3113 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens arylsulfatase family member I (ARSI), mRNA.
ACCESSION   NM_001012301
VERSION     NM_001012301.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3113)
  AUTHORS   Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg
            AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili
            H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B,
            Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam
            N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro
            M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M,
            Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG,
            Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A,
            Brice A, Stevanin G, Gabriel SB, Ideker T and Gleeson JG.
  TITLE     Exome sequencing links corticospinal motor neuron disease to common
            neurodegenerative disorders
  JOURNAL   Science 343 (6170), 506-511 (2014)
   PUBMED   24482476
REFERENCE   2  (bases 1 to 3113)
  AUTHORS   Oshikawa M, Usami R and Kato S.
  TITLE     Characterization of the arylsulfatase I (ARSI) gene preferentially
            expressed in the human retinal pigment epithelium cell line ARPE-19
  JOURNAL   Mol Vis 15, 482-494 (2009)
   PUBMED   19262745
  REMARK    GeneRIF: No mutation was found in the ARSI gene locus of the
            retinitis pigmentosa patients examined.
REFERENCE   3  (bases 1 to 3113)
  AUTHORS   Obaya AJ.
  TITLE     Molecular cloning and initial characterization of three novel human
            sulfatases
  JOURNAL   Gene 372, 110-117 (2006)
   PUBMED   16500042
  REMARK    GeneRIF: The identification, molecular cloning and initial
            characterization of three new members of this human gene family is
            reported.
REFERENCE   4  (bases 1 to 3113)
  AUTHORS   Sardiello M, Annunziata I, Roma G and Ballabio A.
  TITLE     Sulfatases and sulfatase modifying factors: an exclusive and
            promiscuous relationship
  JOURNAL   Hum Mol Genet 14 (21), 3203-3217 (2005)
   PUBMED   16174644
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB448735.1, BC111002.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000328668.8/ ENSP00000333395.7
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA759270.1, BC111002.1,
            AC011372.7 and BM670894.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001012301.3.
            Summary: This gene encodes a protein that belongs to a large family
            of sulfatases that hydrolyze sulfate esters and sulfamates. Members
            of this family play a role in several cellular processes, including
            hormone synthesis, cell signaling in development and degradation of
            macromolecules. The protein encoded by this gene is thought to be
            secreted, and to function in extracellular space. [provided by
            RefSeq, Jul 2016].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3113
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..3113
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /note="arylsulfatase family member I"
                     /db_xref="GeneID:340075"
                     /db_xref="HGNC:HGNC:32521"
                     /db_xref="MIM:610009"
     misc_feature    485..487
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /note="upstream in-frame stop codon"
     CDS             533..2242
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /EC_number="3.1.6.-"
                     /note="arylsulfatase I"
                     /codon_start=1
                     /product="arylsulfatase I precursor"
                     /protein_id="NP_001012301.1"
                     /db_xref="CCDS:CCDS34275.1"
                     /db_xref="GeneID:340075"
                     /db_xref="HGNC:HGNC:32521"
                     /db_xref="MIM:610009"
                     /translation="MHTLTGFSLVSLLSFGYLSWDWAKPSFVADGPGEAGEQPSAAPPQ
                     PPHIIFILTDDQGYHDVGYHGSDIETPTLDRLAAKGVKLENYYIQPICTPSRSQLLTGR
                     YQIHTGLQHSIIRPQQPNCLPLDQVTLPQKLQEAGYSTHMVGKWHLGFYRKECLPTRRG
                     FDTFLGSLTGNVDYYTYDNCDGPGVCGFDLHEGENVAWGLSGQYSTMLYAQRASHILAS
                     HSPQRPLFLYVAFQAVHTPLQSPREYLYRYRTMGNVARRKYAAMVTCMDEAVRNITWAL
                     KRYGFYNNSVIIFSSDNGGQTFSGGSNWPLRGRKGTYWEGGVRGLGFVHSPLLKRKQRT
                     SRALMHITDWYPTLVGLAGGTTSAADGLDGYDVWPAISEGRASPRTEILHNIDPLYNHA
                     QHGSLEGGFGIWNTAVQAAIRVGEWKLLTGDPGYGDWIPPQTLATFPGSWWNLERMASV
                     RQAVWLFNISADPYEREDLAGQRPDVVRTLLARLAEYNRTAIPVRYPAENPRAHPDFNG
                     GAWGPWASDEEEEEEEGRARSFSRGRRKKKCKICKLRSFFRKLNTRLMSQRI"
     sig_peptide     533..601
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     602..2239
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /product="Arylsulfatase I. /id=PRO_0000042216"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5FYB1.1)"
     misc_feature    1358..1360
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5FYB1.1); glycosylation site"
     misc_feature    1394..1396
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5FYB1.1); glycosylation site"
     misc_feature    1928..1930
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5FYB1.1); glycosylation site"
     misc_feature    2018..2020
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5FYB1.1); glycosylation site"
     misc_feature    2060..2149
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5FYB1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3092..3097
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /note="hexamer: ATTAAA"
     polyA_site      3113
                     /gene="ARSI"
                     /gene_synonym="ASI; SPG66"
                     /note="major polyA site"
ORIGIN
        1 gaattctctc ccgccgtgtc ccctcgaccc gcccaacttg tgcctccctc cccttcccct
       61 ctggggtcct gcccacctcc ctgcagggag ctgggctgtt ttaaggactc cgggtggggc
      121 gagaggccgg gaaagcagag gagagagaaa ttaggaggcg ggagaaatcc agggcaagaa
      181 ggaagagggg agtcagagga tggtagagag cactttttgg aagctgccac gccgcgtctc
      241 aggctggccg ggctgagctg gggaagaggg agcaaaggcg gcgcagggcc tgcgcttagg
      301 cagcgggagg cagctcggcg cgggcctgac ctccccagag cgccccgctg cggccgagca
      361 gatccggccc agccgtccgg cagccagtcc cggaccagac actggaccgt ccccgggggg
      421 cgctgaactc cctcgcagca tccgagccgg cgggccggtg gtgcgccctg ggcgcgcgag
      481 gtggtgaggc cccaggagcc cggcgcgccg ggacgcgcgg gccggcttgg cgatgcacac
      541 cctcactggc ttctccctgg tcagcctgct cagcttcggc tacctgtcct gggactgggc
      601 caagccgagc ttcgtggccg acgggcccgg ggaggctggc gagcagccct cggccgctcc
      661 gccccagcct ccccacatca tcttcatcct cacggacgac caaggctacc acgacgtggg
      721 ctaccatggt tcagatatcg agacccctac gctggacagg ctggcggcca agggggtcaa
      781 gttggagaat tattacatcc agcccatctg cacgccttcg cggagccagc tcctcactgg
      841 caggtaccag atccacacag gactccagca ttccatcatc cgcccacagc agcccaactg
      901 cctgcccctg gaccaggtga cactgccaca gaagctgcag gaggcaggtt attccaccca
      961 tatggtgggc aagtggcacc tgggcttcta ccggaaggag tgtctgccca cccgtcgggg
     1021 cttcgacacc ttcctgggct cgctcacggg caatgtggac tattacacct atgacaactg
     1081 tgatggccca ggcgtgtgcg gcttcgacct gcacgagggt gagaatgtgg cctgggggct
     1141 cagcggccag tactccacta tgctttatgc ccagcgcgcc agccatatcc tggccagcca
     1201 cagccctcag cgtcccctct tcctctatgt ggccttccag gcagtacaca cacccctgca
     1261 gtcccctcgt gagtacctgt accgctaccg caccatgggc aatgtggccc ggcggaagta
     1321 cgcggccatg gtgacctgca tggatgaggc tgtgcgcaac atcacctggg ccctcaagcg
     1381 ctacggtttc tacaacaaca gtgtcatcat cttctccagt gacaatggtg gccagacttt
     1441 ctcggggggc agcaactggc cgctccgagg acgcaagggc acttattggg aaggtggcgt
     1501 gcggggccta ggctttgtcc acagtcccct gctcaagcga aagcaacgga caagccgggc
     1561 actgatgcac atcactgact ggtacccgac cctggtgggt ctggcaggtg gtaccacctc
     1621 agcagccgat gggctagatg gctacgacgt gtggccggcc atcagcgagg gccgggcctc
     1681 accacgcacg gagatcctgc acaacattga cccactctac aaccatgccc agcatggctc
     1741 cctggagggc ggctttggca tctggaacac cgccgtgcag gctgccatcc gcgtgggtga
     1801 gtggaagctg ctgacaggag accccggcta tggcgattgg atcccaccgc agacactggc
     1861 caccttcccg ggtagctggt ggaacctgga acgaatggcc agtgtccgcc aggccgtgtg
     1921 gctcttcaac atcagtgctg acccttatga acgggaggac ctggctggcc agcggcctga
     1981 tgtggtccgc accctgctgg ctcgcctggc cgaatataac cgcacagcca tcccggtacg
     2041 ctacccagct gagaaccccc gggctcatcc tgactttaat gggggtgctt gggggccctg
     2101 ggccagtgat gaggaagagg aggaagagga agggagggct cgaagcttct cccggggtcg
     2161 tcgcaagaaa aaatgcaaga tttgcaagct tcgatccttt ttccgtaaac tcaacaccag
     2221 gctaatgtcc caacggatct gatggtgggg agggagaaaa ctgtccttta gaggatcttc
     2281 cccactccgg cttggccctg ctgtttctca gggagaagcc tgtcacatct ccatctacag
     2341 ggagttggag ggtgtagagt cccttggttg aacagggtag ggagcctgga taggagtggg
     2401 tgggaataaa ccagactggg atgcctgtgt ctcagtcctg cctcctcacg gacttgctct
     2461 gtgacctcag gtgacccaca tgagctttta gcctcagttt cctcatctgt aaaatgagct
     2521 ctaatgactt tgtgactctt tggtgtggcc ctggagcctg gggccacggt ggagttcctg
     2581 gccggccttg ccacttgaca actcctttaa ggcttccccc ttaacacggg atccctgtgg
     2641 tggtgtttgg gagttgcctg gaggcaactc caagcctggc ccccagctga agcatggcaa
     2701 tctggctgct ctctacaggg acccccaagc gctgtgggtg gagggcaggg gtcggggggg
     2761 ttgaccttct tgggtcttca catggcctag gccagtcctc cggtcagact ggtgtcaggc
     2821 accgtggtgc aaaattcctc ttctggcccc tccagtaccc agagaaactg gctgggccat
     2881 taactgctgc agcaccaagg gtggtagaaa gagctgtgaa gagcccccaa accagtacca
     2941 ggacacctgg gttctcctgt gacctggggc acagttcttg ccctctaggc cttgatttcc
     3001 ccacctgcaa gtggggatgc cagccctggc tctgcctcct tcatgaggct ctggaagact
     3061 ggccaaggtt gtggaggagc ttgtgaactt gattaaagtg tcgtaacatg gaa
//
LOCUS       NM_001012302            2867 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens anoctamin 9 (ANO9), transcript variant 1, mRNA.
ACCESSION   NM_001012302
VERSION     NM_001012302.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2867)
  AUTHORS   Katsurahara K, Shiozaki A, Kosuga T, Shimizu H, Kudou M, Arita T,
            Konishi H, Komatsu S, Kubota T, Fujiwara H, Okamoto K, Kishimoto M,
            Konishi E and Otsuji E.
  TITLE     ANO9 regulates PD-L2 expression and binding ability to PD-1 in
            gastric cancer
  JOURNAL   Cancer Sci 112 (3), 1026-1037 (2021)
   PUBMED   33404124
  REMARK    GeneRIF: ANO9 regulates PD-L2 expression and binding ability to PD-1
            in gastric cancer.
REFERENCE   2  (bases 1 to 2867)
  AUTHORS   Katsurahara K, Shiozaki A, Kosuga T, Kudou M, Shoda K, Arita T,
            Konishi H, Komatsu S, Kubota T, Fujiwara H, Okamoto K, Kishimoto M,
            Konishi E, Marunaka Y and Otsuji E.
  TITLE     ANO9 Regulated Cell Cycle in Human Esophageal Squamous Cell
            Carcinoma
  JOURNAL   Ann Surg Oncol 27 (9), 3218-3230 (2020)
   PUBMED   32227267
  REMARK    GeneRIF: ANO9 Regulated Cell Cycle in Human Esophageal Squamous Cell
            Carcinoma.
REFERENCE   3  (bases 1 to 2867)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2867)
  AUTHORS   Kim H, Kim H, Lee J, Lee B, Kim HR, Jung J, Lee MO and Oh U.
  TITLE     Anoctamin 9/TMEM16J is a cation channel activated by cAMP/PKA signal
  JOURNAL   Cell Calcium 71, 75-85 (2018)
   PUBMED   29604966
  REMARK    GeneRIF: ANO9 is a cation channel activated by a cAMP/PKA pathway
            and could play a role in intestine function.
REFERENCE   5  (bases 1 to 2867)
  AUTHORS   Jun I, Park HS, Piao H, Han JW, An MJ, Yun BG, Zhang X, Cha YH, Shin
            YK, Yook JI, Jung J, Gee HY, Park JS, Yoon DS, Jeung HC and Lee MG.
  TITLE     ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel
            therapeutic target for pancreatic cancer
  JOURNAL   Br J Cancer 117 (12), 1798-1809 (2017)
   PUBMED   29024940
  REMARK    GeneRIF: Our results showed that ANO9 is overexpressed in most
            pancreatic cancer cell lines tested and in B30% of tissue samples
            obtained from patients with pancreatic cancer. Moreover, high ANO9
            expression was associated with increased proliferation of pancreatic
            cancer cells and poor survival in patients with pancreatic cancer.
REFERENCE   6  (bases 1 to 2867)
  AUTHORS   Scudieri P, Sondo E, Ferrera L and Galietta LJ.
  TITLE     The anoctamin family: TMEM16A and TMEM16B as calcium-activated
            chloride channels
  JOURNAL   Exp Physiol 97 (2), 177-183 (2012)
   PUBMED   21984732
REFERENCE   7  (bases 1 to 2867)
  AUTHORS   Gfeller D, Butty F, Wierzbicka M, Verschueren E, Vanhee P, Huang H,
            Ernst A, Dar N, Stagljar I, Serrano L, Sidhu SS, Bader GD and Kim
            PM.
  TITLE     The multiple-specificity landscape of modular peptide recognition
            domains
  JOURNAL   Mol Syst Biol 7, 484 (2011)
   PUBMED   21525870
REFERENCE   8  (bases 1 to 2867)
  AUTHORS   Hartzell HC, Yu K, Xiao Q, Chien LT and Qu Z.
  TITLE     Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels
  JOURNAL   J Physiol 587 (Pt 10), 2127-2139 (2009)
   PUBMED   19015192
  REMARK    Review article
REFERENCE   9  (bases 1 to 2867)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of human TP53I5 and mouse Tp53i5
            genes in silico
  JOURNAL   Int J Oncol 25 (1), 225-230 (2004)
   PUBMED   15202010
REFERENCE   10  (bases 1 to 2867)
  AUTHORS   Polyak K, Xia Y, Zweier JL, Kinzler KW and Vogelstein B.
  TITLE     A model for p53-induced apoptosis
  JOURNAL   Nature 389 (6648), 300-305 (1997)
   PUBMED   9305847
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK026923.1, BC128557.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000332826.7/ ENSP00000332788.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB140066.1, BC128557.1,
            AC138230.5 and AI986229.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001012302.2.
            Summary: The protein encoded by this gene is a member of the TMEM16
            (anoctamin) family of proteins, some of which form integral
            membrane calcium-activated chloride channels. The function of the
            encoded protein has yet to be elucidated, although it may have
            channel-forming abilities and also may have phospholipid scramblase
            activity. This gene has been observed to be upregulated in stage II
            and III colorectal cancers. [provided by RefSeq, Dec 2016].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2867
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..2867
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="anoctamin 9"
                     /db_xref="GeneID:338440"
                     /db_xref="HGNC:HGNC:20679"
                     /db_xref="MIM:619963"
     CDS             86..2434
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transmembrane protein 16J; p53-induced gene 5 protein;
                     tumor protein p53-inducible protein 5"
                     /codon_start=1
                     /product="anoctamin-9 isoform 1"
                     /protein_id="NP_001012302.2"
                     /db_xref="CCDS:CCDS31326.1"
                     /db_xref="GeneID:338440"
                     /db_xref="HGNC:HGNC:20679"
                     /db_xref="MIM:619963"
                     /translation="MQGEESLRILVEPEGDSFPLMEISTCETEASEQWDYVLVAQRHTQ
                     RDPRQARQQQFLEELRRKGFHIKVIRDQKQVFFGIRADNSVFGLYRTLLLEPEGPAPHA
                     ELAAPTTIPVTTSLRIRIVNFVVMNNKTSAGETFEDLMKDGVFEARFPLHKGEGRLKKT
                     WARWRHMFREQPVDEIRNYFGEKVALYFVWLGWYTYMLVPAALTGLLVFLSGFSLFEAS
                     QISKEICEAHDILMCPLGDHSRRYQRLSETCTFAKLTHLFDNDGTVVFAIFMALWATVF
                     LEIWKRQRARVVLHWDLYVWDEEQEEMALQLINCPDYKLRPYQHSYLRSTVILVLTLLM
                     ICLMIGMAHVLVVYRVLASALFSSSAVPFLEEQVTTAVVVTGALVHYVTIIIMTKINRC
                     VALKLCDFEMPRTFSERESRFTIRFFTLQFFTHFSSLIYIAFILGRINGHPGKSTRLAG
                     LWKLEECHASGCMMDLFVQMAIIMGLKQTLSNCVEYLVPWVTHKCRSLRASESGHLPRD
                     PELRDWRRNYLLNPVNTFSLFDEFMEMMIQYGFTTIFVAAFPLAPLLALFSNLVEIRLD
                     AIKMVWLQRRLVPRKAKDIGTWLQVLETIGVLAVIANGMVIAFTSEFIPRVVYKYRYSP
                     CLKEGNSTVDCLKGYVNHSLSVFHTKDFQDPDGIEGSENVTLCRYRDYRNPPDYNFSEQ
                     FWFLLAIRLAFVILFEHVALCIKLIAAWFVPDIPQSVKNKVLEVKYQRLREKMWHGRQR
                     LGGVGAGSRPPMPAHPTPASIFSARSTDV"
     misc_feature    680..742
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A5B4.3);
                     transmembrane region"
     misc_feature    878..940
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A5B4.3);
                     transmembrane region"
     misc_feature    1079..1141
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A5B4.3);
                     transmembrane region"
     misc_feature    1205..1267
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A5B4.3);
                     transmembrane region"
     misc_feature    1355..1417
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A5B4.3);
                     transmembrane region"
     misc_feature    1742..1804
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A5B4.3);
                     transmembrane region"
     misc_feature    1898..1960
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A5B4.3);
                     transmembrane region"
     misc_feature    2006..2008
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A1A5B4.3); glycosylation site"
     misc_feature    2039..2041
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A1A5B4.3); glycosylation site"
     misc_feature    2105..2107
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A1A5B4.3); glycosylation site"
     misc_feature    2153..2155
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A1A5B4.3); glycosylation site"
     misc_feature    2195..2257
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A5B4.3);
                     transmembrane region"
     misc_feature    2351..2431
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A5B4.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2850..2855
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="hexamer: AGTAAA"
     polyA_site      2867
                     /gene="ANO9"
                     /gene_synonym="PIG5; TMEM16J; TP53I5"
                     /note="major polyA site"
ORIGIN
        1 acgcggaagt caggtaggag cacccgccgc tggcagccac tctcctggcc gccaaacccc
       61 agctggaact ccggccacag ccagcatgca gggcgaagag agcctccgga tcctggtgga
      121 gcccgaaggg gacagcttcc cgctgatgga gatcagcacc tgtgagaccg aggcctccga
      181 gcagtgggac tatgtcctcg tggcccaacg tcacacccag agagaccccc ggcaggcgcg
      241 gcagcaacag ttcctggagg agctcaggag aaagggcttc cacattaagg tgatccggga
      301 ccagaaacag gtcttctttg ggatccgtgc tgacaacagt gtctttggcc tgtaccgcac
      361 tctcctcctg gagcctgagg ggcctgcccc ccacgccgag ctggccgcgc cgaccaccat
      421 cccggtcacc acgagtctca gaatccgaat cgtgaacttc gttgtcatga acaacaagac
      481 ctcggctggt gagaccttcg aggatctgat gaaggacggg gtctttgagg ccaggttccc
      541 cctgcacaag ggggagggac gcctgaagaa gacgtgggcg cggtggagac acatgttccg
      601 ggagcagcca gttgatgaaa tcaggaacta ctttggggaa aaggtggccc tgtacttcgt
      661 ctggctgggc tggtacacct acatgctggt gccggccgcc ctgacgggcc tcttagtctt
      721 tctgagcgga ttctcgctgt ttgaggccag ccagatcagc aaggagatct gtgaggccca
      781 cgacatcctc atgtgtcccc tcggcgacca cagccgcagg taccagcggc tctcggaaac
      841 ctgcactttt gccaagctca cccacctctt tgacaatgat ggcacggtgg tgttcgccat
      901 cttcatggct ctctgggcca cggtgttcct ggagatctgg aagcggcagc gcgcccgcgt
      961 ggtcctgcac tgggacctgt acgtgtggga cgaggaacag gaggaaatgg cacttcagct
     1021 cattaactgc cccgactaca agctccggcc ataccagcac tcctacctac gcagcaccgt
     1081 catcctcgtc ctgaccctgc tcatgatctg cctcatgatc ggcatggccc acgtcctggt
     1141 ggtctaccgc gtcctggcct ccgcgctctt cagcagctcg gccgtgccct tcctggagga
     1201 gcaggtgacc acggccgtgg tggtgaccgg ggctctggtg cactatgtga ccatcatcat
     1261 catgaccaag atcaacaggt gcgtggccct gaagctttgt gacttcgaga tgcccaggac
     1321 cttctcggag cgagagagca ggttcaccat ccgcttcttc acactgcagt tcttcaccca
     1381 tttctcgtct ctcatctaca tcgccttcat cctgggcagg atcaacggcc accccgggaa
     1441 gtccacgcgc ctggcgggct tgtggaagct ggaagagtgc cacgccagcg gctgcatgat
     1501 ggacctcttc gtgcagatgg ccatcatcat gggcctgaag cagacgctca gcaactgcgt
     1561 cgagtacctg gtcccgtggg tgacccacaa gtgccgctct ctgcgggcct ccgagtccgg
     1621 gcacctgccc cgggaccccg agctcaggga ctggcggcgc aactaccttc tgaacccggt
     1681 caacaccttc agcctgttcg acgagttcat ggagatgatg atccagtacg gcttcaccac
     1741 catcttcgtg gccgccttcc cgctggcgcc gctgctcgcg ctcttcagca acctcgtgga
     1801 gatccgcctg gacgccatca agatggtctg gttgcagcgg cgcctggtgc cgcgcaaggc
     1861 caaggacatc gggacctggc tgcaggtgct ggagaccatc ggtgtgctgg cggtcattgc
     1921 caatgggatg gtcattgcct tcacatctga gttcatcccc cgagtggtct acaagtaccg
     1981 ctatagccca tgcctgaaag aaggcaactc tactgtcgac tgcctcaagg gctacgtcaa
     2041 ccacagcctg tccgtcttcc acaccaagga cttccaggac cctgatggga ttgagggctc
     2101 agaaaacgtg actctgtgca gatacaggga ctaccgcaat ccccccgatt acaacttctc
     2161 cgagcagttc tggttcctcc tggccatccg cctggccttc gtcatcctct ttgagcacgt
     2221 ggccttgtgc atcaagctca tcgccgcctg gttcgtgccc gacatccctc agtcggtgaa
     2281 gaacaaggtt ctggaggtga agtaccagag gctgcgtgag aagatgtggc atggaaggca
     2341 gaggctgggt ggggtggggg caggctctcg gcccccaatg cctgcccatc ccaccccagc
     2401 atccatcttc agtgccagga gcacagacgt gtagggccag agcccgtcca gaggccacca
     2461 ggagctgaga cagtgccacc accagcacct cccacaagcc caccgctgtg cgtgttgagg
     2521 ggtgctgtga gaaggctgtg cccatgtggg gccgcaggaa tcccctgtat gttcagggct
     2581 gtgagctgcc accctattcc gcctgctccg tctttgtggg ggctctcagg cttggcacag
     2641 ccctgacttg aactctgggt gaccctgggc acccacagaa ctgggagtga gggctcctca
     2701 ggcagccaca aggcaggaaa actggcgcaa atttcctggg cctccctctg acttctgggc
     2761 gccagatcct gccgtgcccc catcctggct gttgggggtg tcctgagccc acctcgctgg
     2821 cctgttccct tcagccaacc cgtttctgca gtaaaattaa gcctgtc
//
LOCUS       NM_001012338           20018 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens neurotrophic receptor tyrosine kinase 3 (NTRK3),
            transcript variant 1, mRNA.
ACCESSION   NM_001012338
VERSION     NM_001012338.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 20018)
  AUTHORS   Klubickova N, Mosaieby E, Ptakova N, Trinquet A, Lae M,
            Costes-Martineau V and Skalova A.
  TITLE     High-grade non-intestinal type sinonasal adenocarcinoma with
            ETV6::NTRK3 fusion, distinct from secretory carcinoma by
            immunoprofile and morphology
  JOURNAL   Virchows Arch 483 (2), 187-195 (2023)
   PUBMED   37415052
  REMARK    GeneRIF: High-grade non-intestinal type sinonasal adenocarcinoma
            with ETV6::NTRK3 fusion, distinct from secretory carcinoma by
            immunoprofile and morphology.
REFERENCE   2  (bases 1 to 20018)
  AUTHORS   Kim MS, Lee WS, Lee H and Jin W.
  TITLE     TrkC, a novel prognostic marker, induces and maintains cell survival
            and metastatic dissemination of Ewing sarcoma by inhibiting
            EWSR1-FLI1 degradation
  JOURNAL   Cell Death Dis 13 (9), 836 (2022)
   PUBMED   36171207
  REMARK    GeneRIF: TrkC, a novel prognostic marker, induces and maintains cell
            survival and metastatic dissemination of Ewing sarcoma by inhibiting
            EWSR1-FLI1 degradation. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 20018)
  AUTHORS   Salokas K, Liu X, Ohman T, Chowdhury I, Gawriyski L, Keskitalo S and
            Varjosalo M.
  TITLE     Physical and functional interactome atlas of human receptor tyrosine
            kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   4  (bases 1 to 20018)
  AUTHORS   Kechin AA, Ivanov AA, Kel AE, Kalmykov AS, Oskorbin IP, Boyarskikh
            UA, Kharpov EA, Bakharev SY, Oskina NA, Samuilenkova OV, Vikhlyanov
            IV, Kushlinskii NE and Filipenko ML.
  TITLE     Prediction of EVT6-NTRK3-Dependent Papillary Thyroid Cancer Using
            Minor Expression Profile
  JOURNAL   Bull Exp Biol Med 173 (2), 252-256 (2022)
   PUBMED   35737155
  REMARK    GeneRIF: Prediction of EVT6-NTRK3-Dependent Papillary Thyroid Cancer
            Using Minor Expression Profile.
REFERENCE   5  (bases 1 to 20018)
  AUTHORS   Ateaque S, Merkouris S, Wyatt S, Allen ND, Xie J, DiStefano PS,
            Lindsay RM and Barde YA.
  TITLE     Selective activation and down-regulation of Trk receptors by
            neurotrophins in human neurons co-expressing TrkB and TrkC
  JOURNAL   J Neurochem 161 (6), 463-477 (2022)
   PUBMED   35536742
  REMARK    GeneRIF: Selective activation and down-regulation of Trk receptors
            by neurotrophins in human neurons co-expressing TrkB and TrkC.
REFERENCE   6  (bases 1 to 20018)
  AUTHORS   Guiton M, Gunn-Moore FJ, Glass DJ, Geis DR, Yancopoulos GD and
            Tavare JM.
  TITLE     Naturally occurring tyrosine kinase inserts block high affinity
            binding of phospholipase C gamma and Shc to TrkC and neurotrophin-3
            signaling
  JOURNAL   J Biol Chem 270 (35), 20384-20390 (1995)
   PUBMED   7657612
REFERENCE   7  (bases 1 to 20018)
  AUTHORS   Shelton DL, Sutherland J, Gripp J, Camerato T, Armanini MP, Phillips
            HS, Carroll K, Spencer SD and Levinson AD.
  TITLE     Human trks: molecular cloning, tissue distribution, and expression
            of extracellular domain immunoadhesins
  JOURNAL   J Neurosci 15 (1 Pt 2), 477-491 (1995)
   PUBMED   7823156
REFERENCE   8  (bases 1 to 20018)
  AUTHORS   McGregor LM, Baylin SB, Griffin CA, Hawkins AL and Nelkin BD.
  TITLE     Molecular cloning of the cDNA for human TrkC (NTRK3), chromosomal
            assignment, and evidence for a splice variant
  JOURNAL   Genomics 22 (2), 267-272 (1994)
   PUBMED   7806211
REFERENCE   9  (bases 1 to 20018)
  AUTHORS   Ebendal T.
  TITLE     Function and evolution in the NGF family and its receptors
  JOURNAL   J Neurosci Res 32 (4), 461-470 (1992)
   PUBMED   1326636
  REMARK    Review article
REFERENCE   10  (bases 1 to 20018)
  AUTHORS   Lamballe F, Klein R and Barbacid M.
  TITLE     trkC, a new member of the trk family of tyrosine protein kinases, is
            a receptor for neurotrophin-3
  JOURNAL   Cell 66 (5), 967-979 (1991)
   PUBMED   1653651
COMMENT     ##Evidence-Data-START##
            CDS exon combination      :: S76475.1, KJ534904.1 [ECO:0000331]
            RNAseq introns :: partial sample support SAMEA2145743, SAMEA2153980
            [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000629765.3/ ENSP00000485864.1
            RefSeq Select criteria    :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009711.10, AC021677.4 and
            AC011966.7.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 13, 2020 this sequence version replaced NM_001012338.2.
            Summary: This gene encodes a member of the neurotrophic tyrosine
            receptor kinase (NTRK) family. This kinase is a membrane-bound
            receptor that, upon neurotrophin binding, phosphorylates itself and
            members of the MAPK pathway. Signalling through this kinase leads
            to cell differentiation and may play a role in the development of
            proprioceptive neurons that sense body position. Mutations in this
            gene have been associated with medulloblastomas, secretory breast
            carcinomas and other cancers. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2011].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..20018
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.3"
     gene            1..20018
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="neurotrophic receptor tyrosine kinase 3"
                     /db_xref="GeneID:4916"
                     /db_xref="HGNC:HGNC:8033"
                     /db_xref="MIM:191316"
     misc_feature    279..281
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="upstream in-frame stop codon"
     CDS             315..2834
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /EC_number="2.7.10.1"
                     /note="isoform a precursor is encoded by transcript variant
                     1; tyrosine kinase receptor C; NT-3 growth factor receptor;
                     ETV6-NTRK3 fusion; ETS related protein-neurotrophic
                     receptor tyrosine kinase fusion protein; neurotrophic
                     tyrosine kinase, receptor, type 3"
                     /codon_start=1
                     /product="NT-3 growth factor receptor isoform a precursor"
                     /protein_id="NP_001012338.1"
                     /db_xref="CCDS:CCDS32322.1"
                     /db_xref="GeneID:4916"
                     /db_xref="HGNC:HGNC:8033"
                     /db_xref="MIM:191316"
                     /translation="MDVSLCPAKCSFWRIFLLGSVWLDYVGSVLACPANCVCSKTEINC
                     RRPDDGNLFPLLEGQDSGNSNGNASINITDISRNITSIHIENWRSLHTLNAVDMELYTG
                     LQKLTIKNSGLRSIQPRAFAKNPHLRYINLSSNRLTTLSWQLFQTLSLRELQLEQNFFN
                     CSCDIRWMQLWQEQGEAKLNSQNLYCINADGSQLPLFRMNISQCDLPEISVSHVNLTVR
                     EGDNAVITCNGSGSPLPDVDWIVTGLQSINTHQTNLNWTNVHAINLTLVNVTSEDNGFT
                     LTCIAENVVGMSNASVALTVYYPPRVVSLEEPELRLEHCIEFVVRGNPPPTLHWLHNGQ
                     PLRESKIIHVEYYQEGEISEGCLLFNKPTHYNNGNYTLIAKNPLGTANQTINGHFLKEP
                     FPESTDNFILFDEVSPTPPITVTHKPEEDTFGVSIAVGLAAFACVLLVVLFVMINKYGR
                     RSKFGMKGPVAVISGEEDSASPLHHINHGITTPSSLDAGPDTVVIGMTRIPVIENPQYF
                     RQGHNCHKPDTYVQHIKRRDIVLKRELGEGAFGKVFLAECYNLSPTKDKMLVAVKALKD
                     PTLAARKDFQREAELLTNLQHEHIVKFYGVCGDGDPLIMVFEYMKHGDLNKFLRAHGPD
                     AMILVDGQPRQAKGELGLSQMLHIASQIASGMVYLASQHFVHRDLATRNCLVGANLLVK
                     IGDFGMSRDVYSTDYYRLFNPSGNDFCIWCEVGGHTMLPIRWMPPESIMYRKFTTESDV
                     WSFGVILWEIFTYGKQPWFQLSNTEVIECITQGRVLERPRVCPKEVYDVMLGCWQREPQ
                     QRLNIKEIYKILHALGKATPIYLDILG"
     sig_peptide     315..407
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     408..2831
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /product="NT-3 growth factor receptor isoform a"
     misc_feature    528..530
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16288.2); glycosylation site"
     misc_feature    549..551
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16288.2); glycosylation site"
     misc_feature    624..689
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16288.2);
                     Region: LRR 1"
     misc_feature    696..761
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16288.2);
                     Region: LRR 2"
     misc_feature    711..713
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16288.2); glycosylation site"
     misc_feature    801..803
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16288.2); glycosylation site"
     misc_feature    921..923
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16288.2); glycosylation site"
     misc_feature    966..968
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16288.2); glycosylation site"
     misc_feature    1008..1010
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16288.2); glycosylation site"
     misc_feature    1089..1091
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16288.2); glycosylation site"
     misc_feature    1113..1115
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16288.2); glycosylation site"
     misc_feature    1128..1130
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16288.2); glycosylation site"
     misc_feature    1194..1196
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16288.2); glycosylation site"
     misc_feature    1437..1439
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16288.2); glycosylation site"
     misc_feature    1476..1478
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q16288.2); glycosylation site"
     misc_feature    1602..1673
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16288.2);
                     transmembrane region"
     misc_feature    1791..1793
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6VNS1; propagated from
                     UniProtKB/Swiss-Prot (Q16288.2); phosphorylation site"
     misc_feature    1860..1862
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="Interaction with SHC1. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q16288.2); other
                     site"
     misc_feature    1860..1862
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:25196463; propagated from
                     UniProtKB/Swiss-Prot (Q16288.2); phosphorylation site"
     misc_feature    2427..2429
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (Q16288.2); phosphorylation site"
     misc_feature    2439..2441
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (Q16288.2); phosphorylation site"
     misc_feature    2442..2444
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="Phosphotyrosine, by autocatalysis.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (Q16288.2); phosphorylation site"
     misc_feature    2814..2816
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="Interaction with PLC-gamma-1. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q16288.2); other
                     site"
     regulatory      19999..20004
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="hexamer: AATAAA"
     polyA_site      20018
                     /gene="NTRK3"
                     /gene_synonym="gp145(trkC); GP145-TrkC; TRKC"
                     /note="major polyA site"
ORIGIN
        1 gcacttgtac atttctgcag ccgcgcggcg agccattcgc ggcggctgct gcagctccta
       61 ctgcatcttc cttctcttcc tttcctcggg ctccggtctc ggagtcggag agcgcgcctc
      121 gcttccagag cccccggacc cggcgagtca gcgatcgccg agccggccac catgcccggc
      181 agaccgcgcc actaggcgct cctcgcggct cccacccggc ggcggcggcg gcggcggcgg
      241 cgtccgcgat ggtttcagac gctgaaggat tttgcatctg atcgctcggc gtttcaaaga
      301 agcagcgatc ggagatggat gtctctcttt gcccagccaa gtgtagtttc tggcggattt
      361 tcttgctggg aagcgtctgg ctggactatg tgggctccgt gctggcttgc cctgcaaatt
      421 gtgtctgcag caagactgag atcaattgcc ggcggccgga cgatgggaac ctcttccccc
      481 tcctggaagg gcaggattca gggaacagca atgggaacgc cagtatcaac atcacggaca
      541 tctcaaggaa tatcacttcc atacacatag agaactggcg cagtcttcac acgctcaacg
      601 ccgtggacat ggagctctac accggacttc aaaagctgac catcaagaac tcaggacttc
      661 ggagcattca gcccagagcc tttgccaaga acccccattt gcgttatata aacctgtcaa
      721 gtaaccggct caccacactc tcgtggcagc tcttccagac gctgagtctt cgggaattgc
      781 agttggagca gaactttttc aactgcagct gtgacatccg ctggatgcag ctctggcagg
      841 agcaggggga ggccaagctc aacagccaga acctctactg catcaacgct gatggctccc
      901 agcttcctct cttccgcatg aacatcagtc agtgtgacct tcctgagatc agcgtgagcc
      961 acgtcaacct gaccgtacga gagggtgaca acgctgttat cacttgcaat ggctctggat
     1021 caccccttcc tgatgtggac tggatagtca ctgggctgca gtccatcaac actcaccaga
     1081 ccaatctgaa ctggaccaat gttcatgcca tcaacttgac gctggtgaat gtgacgagtg
     1141 aggacaatgg cttcaccctg acgtgcattg cagagaacgt ggtgggcatg agcaatgcca
     1201 gtgttgccct cactgtctac tatcccccac gtgtggtgag cctggaggag cctgagctgc
     1261 gcctggagca ctgcatcgag tttgtggtgc gtggcaaccc cccaccaacg ctgcactggc
     1321 tgcacaatgg gcagcctctg cgggagtcca agatcatcca tgtggaatac taccaagagg
     1381 gagagatttc cgagggctgc ctgctcttca acaagcccac ccactacaac aatggcaact
     1441 ataccctcat tgccaaaaac ccactgggca cagccaacca gaccatcaat ggccacttcc
     1501 tcaaggagcc ctttccagag agcacggata actttatctt gtttgacgaa gtgagtccca
     1561 cacctcctat cactgtgacc cacaaaccag aagaagacac ttttggggta tccatagcag
     1621 ttggacttgc tgcttttgcc tgtgtcctgt tggtggttct cttcgtcatg atcaacaaat
     1681 atggtcgacg gtccaaattt ggaatgaagg gtcccgtggc tgtcatcagt ggtgaggagg
     1741 actcagccag cccactgcac cacatcaacc acggcatcac cacgccctcg tcactggatg
     1801 ccgggcccga cactgtggtc attggcatga ctcgcatccc tgtcattgag aacccccagt
     1861 acttccgtca gggacacaac tgccacaagc cggacacgta tgtgcagcac attaagagga
     1921 gagacatcgt gctgaagcga gaactgggtg agggagcctt tggaaaggtc ttcctggccg
     1981 agtgctacaa cctcagcccg accaaggaca agatgcttgt ggctgtgaag gccctgaagg
     2041 atcccaccct ggctgcccgg aaggatttcc agagggaggc cgagctgctc accaacctgc
     2101 agcatgagca cattgtcaag ttctatggag tgtgcggcga tggggacccc ctcatcatgg
     2161 tctttgaata catgaagcat ggagacctga ataagttcct cagggcccat gggccagatg
     2221 caatgatcct tgtggatgga cagccacgcc aggccaaggg tgagctgggg ctctcccaaa
     2281 tgctccacat tgccagtcag atcgcctcgg gtatggtgta cctggcctcc cagcactttg
     2341 tgcaccgaga cctggccacc aggaactgcc tggttggagc gaatctgcta gtgaagattg
     2401 gggacttcgg catgtccaga gatgtctaca gcacggatta ttacaggctc tttaatccat
     2461 ctggaaatga tttttgtata tggtgtgagg tgggaggaca caccatgctc cccattcgct
     2521 ggatgcctcc tgaaagcatc atgtaccgga agttcactac agagagtgat gtatggagct
     2581 tcggggtgat cctctgggag atcttcacct atggaaagca gccatggttc caactctcaa
     2641 acacggaggt cattgagtgc attacccaag gtcgtgtttt ggagcggccc cgagtctgcc
     2701 ccaaagaggt gtacgatgtc atgctggggt gctggcagag ggaaccacag cagcggttga
     2761 acatcaagga gatctacaaa atcctccatg ctttggggaa ggccacccca atctacctgg
     2821 acattcttgg ctagtggtgg ctggtggtca tgaattcata ctctgttgcc tcctctctcc
     2881 ctgcctcaca tctcccttcc acctcacaac tccttccatc cttgactgaa gcgaacatct
     2941 tcatataaac tcaagtgcct gctacacata caacactgaa aaaaggaaaa aaaaagaaag
     3001 aaaaaaaaac cctgtaaggc agtttggcaa atatatatat atatatatat atttatatat
     3061 ctaactatct atcaatctat atctacagag agttaccttc tctagtacac agagaagctg
     3121 ctgatacaga aaaccacaag actttaacaa ctcagaaact ctaaaatatt aataatacaa
     3181 aggaaaattc cctttgactt aagctgtggc ccatgcttct aatgctacgg ctctttggag
     3241 cagaagacct ggaccatgca gagagacaat ctttgggatg agagctctgg gacgggagga
     3301 gttaaggtgg tgctcagtcg ctgctgtgtg tgtctgttac cccggaagct caccacaggc
     3361 acatgtgggg actgcatggc tgtgctcagc aaagaaatga tgcctgagca gggtccttgc
     3421 ctccacttct tccccatttc ctccacttca ggacaatgtt ctaatttgtc cattctaaaa
     3481 agtgtaatct tgatgctttt gggaatcaat gatggcacct acgggtaaac acagaacaga
     3541 caaccccaca acacaaaacc atgacaagag ctgacagcat ccatcctggg tgtaagcttc
     3601 ttgctggagt tgcaaaggat gtgtctttct attctcagaa cttaaagaac tggactttct
     3661 ggagtaaaag aaccacagaa gaaaaaatag ctgaaacctg aaccctgcca agacactgcc
     3721 acctgtcttt tccatcattg caaagattcc ttggcctcac ctcccacttt caggcccctg
     3781 ggaagcttag ggggttagga aacaggtccc catgttatct ttgaatgtag acacagcacg
     3841 ctttagggtt gcaatagcaa gagacttggt tgcttgtagg tcattataac gaatgccccc
     3901 tggtcctctc agtttctcat cctgcttccc tagatcctag accccacttc ctgggtctct
     3961 actgagtccc aggtaaaccc cactgccaag gaagggagcc aggtctagtg agaggctgca
     4021 gcagtgagtg tttcaggaaa gcaagcagtg gagtgggtga gagccagcag gggagaatct
     4081 acttggcacc tgtgccaggc cccttggcat tctcctcacg tttccagccc ctgggaggat
     4141 tgatgcatct gcctttgagc tgttgtgaaa acgcaggggc tgagaaatca cttttgtggg
     4201 ctggggtagg gggaagggct gaggcttctc tgggagatgt ccaatgagcg gccagtgctg
     4261 caggcttgga atcttaatga ggcctgagcc ctgaccggag agagggaagg aaacatctgt
     4321 gctggggcct gctccctctg ccccagcact ggggaatcac tgccttcctg gctgctgcca
     4381 cataccacag tggggccgac ctctgggcct ccctgtcaca tgaaacatgg aagccaacag
     4441 cctggcccca cagatctcct ctgctggaga ggagaggatg tgttcctccc aggccacggg
     4501 gcccctctgc cttgccccaa gcacagagct acctaaggga ctgacctttg ccacactgga
     4561 gctcacctcc cgggggcctc tggcctaccc ttttccctgc cagctgaaga gactgccggc
     4621 agcctggacg tcctggttag ctgaaggcag ctgaaatgtg ggcctcccta tgtggggttt
     4681 agtactgaat tatgtgtttg tggttttgct tctttttgta gacccacaaa tatttttatt
     4741 tgaatagtaa agagctgtgc tcagattgta gccatggttg ggatttggga tcaacgaggc
     4801 tggttagctg gactgggagg ggaggcaggt gagatgggaa tttggtgttg gttttctcac
     4861 tgtgctgtgc tcctagcccc tgaggacttt gcaggaaagc tgtttggatt gaccacctca
     4921 aggaactcct ttgctgtcct atgacaatta ctcctcttgt ctttccacct agaggaccgt
     4981 tatgccgggg ctgtgagttc tggctgaagc tgcacaatct ggctttgatc tgggtagcta
     5041 agaacaggtg ttcagggagg gcatggtctg gaggcgcctg agggaaaagt atcttctggt
     5101 tagaagtgaa gcaccaatgc tcctgttgct tcccttctcc catatcctct cctgaacaaa
     5161 cactgtgtgg cttctgtctt cttggctgtg tgtttcaaaa ctgatagtca ctgatgggct
     5221 gggaagaagc aggagaagaa ctgggttgga gatgggtgga aaactgggaa taaggaccat
     5281 gctatggttt tatcttcagg gcactgattc atcatggcct aatgaaagaa ggtgattcct
     5341 tgggggaaca agaagcactg aaggagaccg cagttgtcag attgctgcca ccttaggccc
     5401 acgggctttc acgctgatct tggggtcatg ttcttactgt gtccattgta agcagctggc
     5461 tgtggaagag tgccagagag agaggggcag agcagggaag ggtagcgagg gaagatatat
     5521 tactttgata tattagcctt ggcagattaa aaaaaaaaga tttattttgg agagtaaagg
     5581 aggcagaaaa tagggccatg gaaattgcag ggtacactat ggctctgggg agtgtggcat
     5641 gtactgggac acacctgtcc ctcctatatt gggacaggac tgataaggct tagtacactg
     5701 tatcttaatt tccccatctg cagaataagg ggtacacctg ctaatctctg gccccttcta
     5761 gctctgagtt cttagattct gacaacgttg tgtcactgtg ccatttttct caataccatt
     5821 ctggaatggc aggacagcct tgcataggtg gggggcagtt gccgctgaag gctcactggg
     5881 cctgggcaag gctgagttcc aataagacac tcctctcctt ctttgcccct tgtctcaaca
     5941 tttcggagtc tgaagtgtct gagacgactg taagccagga ggggagcatt tggtcggctt
     6001 cccatcctgg cattcctaca taccagaaaa gcactgtcga cggtccattt atttatttat
     6061 ttatgaagag cctaatgtga tgaaatgtgt tgtgaaatga catcctatta gccaatatgg
     6121 ccactccagt tcatttcacc ctcattttcc cataccaaag tccacctttt agaagaccat
     6181 gtcacatcgc ctctgagagc ttagctttga agtgagctct tttgtgtctt ttgatgaacg
     6241 ctccagggca cccaggctgg tctctctgcc atgccaacct caccggatcc tctcctggac
     6301 tgagtgagag tgacctgctg ttgggtgtcc accttggagt agggtgttgt ggccatggga
     6361 cctcccaatt cttctttctt tggatgtgaa cctaactctg ccctctaatg atatccctga
     6421 actctgaggg gaccttgggc atcactgaac ctcctctagt caagagacaa gaaaaaggag
     6481 gtgctgcttc ctccattcag cagatcatgc acaaattact cctagacaga ggcttcccac
     6541 ttgaggcaaa ggatctttgg tccttctggg ttcaggttga acattaatgt tcttctctag
     6601 tgatgcctac tttgcggaat acactagtgc aagtcatttt ggtgctaaat actgcagaaa
     6661 ccaacaccaa cgggagagct gtcagccagc ttctggggct gcacgagact caactcagaa
     6721 gtagaagtga gtcagccatg ccgggagagt acagggtgca ttggaagtta agtagaaaag
     6781 tggcagggtg aaaagaccag caaaatttct gattttgcta ttagttatcc acgtggcctt
     6841 ggccaaatca gcttatttct catttgagac gtttaagagg tttgtataga tatttttaga
     6901 gtccttttca tttttttaaa gctaggttct ggtcccacct gatatatatg tacttgcttg
     6961 ttaaaaataa gagatgaagt gaaagataag gaaggagacg aagaaaagtt accaatggca
     7021 aaggattgat tatagaagac aatgaaagaa ggcctggtga ctggtagatt tgaggaatat
     7081 tgtacaggga gccaggcaga caagccagag acttcatttt tatgctcttc acaggaggtc
     7141 actggcctag ccacttgcct gcgtttcacc aggctgttcc cctcagctag tcaaccttcc
     7201 ctgttcaaaa ccaacatgct aacacttggc agaaactatt ccaagatatg gagagaggcc
     7261 tgcccatctc tcatgcaggc cactggaaat caactctggg tcaaaaccga caagattttt
     7321 atcttttaat gcttattgta agaggccggg atgtttgaaa gagggcagcg tcttaagttg
     7381 cagactattc accaaagtcc ttttctattc aggaatgact aatgactttc tttgttcccc
     7441 ttttccaaac caaacagcag cagtattacc ttgactccaa agtacagtga ttgcaatgga
     7501 cagtcttgag attaagggtc tttttagtgc tttgctcgga atctggagca aggaaatgtc
     7561 tagggatgtt tgttgaatga acccacctgc cagcagtcca gagagctgtc ccaaaggccc
     7621 ctgagatgtc tattgtctgc tttggtaggg agccaacctg ctagaagact caagggcatt
     7681 tgccttagag agaaaaaaaa atggcacatt tagttccggg cttgggtgct gaagtcactg
     7741 tgtttttggc tcctgaagct ccactttctt ttttcatacc aaataaattg ttttggccaa
     7801 tatttaagga tttaaatatt taaggttttg aaggaaaatt ccaagtttat gcatcattat
     7861 taagacatca atatgggctt gggaaaatgt tttggtgttg cttaataata ctgggagtgt
     7921 cttctaaaga aagtatacat atatgtacgt tgtgtgttta tttctatata ttggattgga
     7981 atggcttcaa agaaggcctg tttgaagtca gcaaattgat ttcaatttgg gattctcttt
     8041 tagccttacc gttcttgggg ataagaaatc tggagatgaa ctggcctcag aaacattcag
     8101 gaagattacg atgggaaatc tgtcatcttg taaagttgga tcatttggtg ctctctgaac
     8161 taaattatgc tgactaacat tctgagcatc tgaaaatcat tcttcctggt tgcctgatag
     8221 atgaccacac aggagtcatt tctatcacat cttatttggg ggttggtata gacgccacca
     8281 gcactgcagg gaaaaccacc ccctaggagg ggtgagacag agagaatgtg agattttgat
     8341 cattgattgc tctttctgaa aggcactgct gaccatagta ggtgtggtga atgtttgtgt
     8401 cactgcattg ggtattagaa cttttgctct gagcatgggc tgccctaccc tgaagagctg
     8461 aatcttggct tctgacagaa gctctgcatg actcattctc ctcaagcata ttttccttat
     8521 tttcctatga aagtatctat agtttgcaac aagaactgtc tttggttcaa gtgtcagtgt
     8581 actagaatag atgcttttct gtgagacctg tggaggttgg attggggtgg ggggtgttcc
     8641 ttcaaagtac ttggaattct ttatcaaaga aataaaactc agattctctt ctttctagtt
     8701 tacttctaag ttccaaattt aaaacaagac ccagtttgac atttgcagta ggagataatg
     8761 tcttgaacca gtgagcttgg ctatctttct ttcatcatag ggaggcaggg cagtaagttg
     8821 tattaatttt tcctaatcac ccaggcaaat attgcttttt gttcagtgtc gtgacccaca
     8881 ttcatagctt gcaggggata cttctagctg acaaagctgg aagtttctaa tagaagatgt
     8941 atcaagataa cagaggtgag gaaaggcctg ttgaacatct acttctgaga atcattgagg
     9001 cactcaggtc ttgcttttca gtttagtatc ttacaaaagg agttggtttc ttctcatttt
     9061 agcaatgata aatttagaca tcttttttga aaggccaaag gtagattgag agctcaaata
     9121 cttacggtgt actctgacag tcttttattc tatttttcaa gacttatttt atatatacat
     9181 attttttatt tccataggtt attggggaac aggtagtgtt tggttacatg agtaagttct
     9241 ttggtggtga tttgtgagat tttggcacac ccatcaccca ggcagtatgc accatatttg
     9301 tagtctttta tccctcactc ccttcccaca ctttccccct gagtccgcag agtccattgt
     9361 gtcattctta taccttgaca tcctcacagc ttagctccca catatcagtg agaacgtacg
     9421 atgtttggtt ttctattcct gaattgcttc acttagaata gtggtctcca atctcaccca
     9481 ggccgcttcg aatgccatta attcattcct ttttatggat gagtagtatt ccatcataca
     9541 tatatatgtt tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg tgtgtgtacc acagtttctt
     9601 tatctgctca ttgattgatg ggcatttggg ttgattccac tttttgcaat tgcaaattgt
     9661 gctgctataa acatatgtgt gcaagtatct ctatctctta tgtataatga cttcttttcc
     9721 tctgggcaga tacccagtaa tagggctgcg ggattactga cattctttta catgcaacat
     9781 ccctaaaacc caacaagacg tgtaaacact gaagtccaag tctgataatt attctttcat
     9841 ttaagaagaa cacatgggag tttcacatat tatttttaaa aactaatttt gtaatatgtt
     9901 aaatggtagg acacattcaa ttttttttcc tcattggaga tctgtccatg ttctgtctca
     9961 atttaatagc tacctggcat gtaactgatg cctctgagcc tacctctgga gtgaataaat
    10021 aaacgtggtc caggtgattt gatttctgcc atttgtagtg gagaagtaaa tctcagtgaa
    10081 gaagattttt tttcatattt cttctttttt ctttttcttt tggcttctat cctcctgctt
    10141 ccatgggact gacaatccag cttctcaaac tccacgaaag tcttaataca aggtgaatcc
    10201 cagagccaca aacagtttgg acttcaaaca gtgagaaaat tggaccgaat gattcggcac
    10261 acaaagcaga aaactttcat ttcctgtagg caggatggaa ttgactgtta tattaagact
    10321 tctgaagaag ccctgccctg gagtaatttc agtgctgtca gacgatgttg acatctagat
    10381 taacctctgt gcagtgaatt ttactgcaaa gctcattgag atgcatgtga tgtgtctcca
    10441 caaatcccat ctggaacccg tggtggccca ccctcagcaa ccctcctctc cccactgact
    10501 ctgctttctc tgtccataaa cttttagcct ccaggagcag aggagccgtg gctgagatct
    10561 gaccctagga gagggagttt gggccttctc tgaccatgat gctgagccag gctttctgct
    10621 tagagtgaca gagattgtca ttgtattggg tttcccctga gggaactgca aattaaggca
    10681 tgaaaaacac tctgctgatg acagtttcac agcatatctt aatgctgcac aaagtgaaat
    10741 ggtttaaaag gaattagtgt gtcctaagtc attgagccct gctctgggct ctgcaatcct
    10801 ctagggattc aagatcccat tgcaacaagg tcatgactgc gtctaggccg gacagacgga
    10861 ttctgaagga caaggtgttt gtcttttgtg caggtctttc ctatggtcct tacaagagag
    10921 gcagccacag ctcctgtttc tcccaactgg gacaaaagat gtagctgttt tctaagcact
    10981 ggtttgtcat ctctttaagg agtggttggc tccagaatga gccagactca ctctataatt
    11041 ccacattgtg gcacaacagc cacatagaac ctcaaagctg aaattgcaac ttttctgcaa
    11101 aatagggcca ttgattacat ccaaagtttt gagaaaaggc cttcaggtta gattcagtca
    11161 ccttcagact ccacagagtt gctcagcatg gttgcaggcg tctttggaaa cttacctcag
    11221 ggttttagaa tacgttaccc tgaagtctgg ataacaattt tctctgagat tttactgatt
    11281 ctaattccct ttgaaattgt ttttcctact tgcctcttgt ctttcattta aataataaga
    11341 atctccttgc atattcttag gtatttcttt aggagaattg gaagtttcca gccaaggaca
    11401 ctgtgtttat gaattggaaa gatatctttc tgggctgaaa aaggtaaaaa tcatacggag
    11461 gcaatcttga tgactttatt taaaagcaat tatcagcatt gtgttttatt ctaggtgctc
    11521 gtgctcatag tgcaaactac attcacgttt ttaattattt atgttatgat acttattcgt
    11581 gtgtacatat atgcgcacac acacacacaa aagcctccac aatcctactg gtatacaaat
    11641 ccatatgccc catttgtgtc gcttccgttg atctttgtgt gcatgcattt gcaatgaagt
    11701 gtgcatcaca tgtgtgattt cttaaagtca tctatagctc atctttcctc ttattatcga
    11761 cacataccct ttgactttct gcactttgga gctcatgaaa ttaaggcttt ttcaagggag
    11821 actacatctt gagtttcttt aaaccttcat atttaaagat aggactggtt ttcttcgaga
    11881 aacaaaaact tgattcagat tttatttaat taattaattt tctgggggaa atggtactga
    11941 atttgttcct gagtaacaaa tagtagtaag tgcaaatata aatgtgaagt agtttaagca
    12001 ggttattgaa cctatcttgt ggctgaaaca agtagtcaga tatgaagctc agacactcaa
    12061 attgaattag aacgtgaacc aaaacggtta gcatggggca ggagaagagc actgggctag
    12121 gagcaagcct gctagattgt cacttgagtg tccttagctt aatgtgggca tctgacaact
    12181 agttgcagtc ctgtgcccct ctaattccag agatggggca agccaatctg tttctcatcc
    12241 attgctcaag ttggttatca ctgaaatatt atataccatc tcaagatcct gccctgaaca
    12301 agtttgcaaa catccccccc acactgagga gtcagtccca tttttgtttt atggcagttt
    12361 atctcttgtg accctccttt ggaagctgtc caaactctga acacttgctg tccattccct
    12421 gctccccacc ccacccttta aggccaggga aaagccaggg aaagccctat tggctcatct
    12481 ccctctttcc tagcctgcac atcaaccaag cttgggattt agcctaggtt ttcagagagg
    12541 aaaacaagtg cgttctccca gccatcagta tctttccagc cccctggacc aagtgattag
    12601 tgcctcatta gcgcctcatc agttgctttt gcacaagaga ctctgggaca acaagcctat
    12661 tataatgcct cagtctgtct ttttgaagtc aaaccatcct tctggcttgg ttaggaaagg
    12721 ggagcctttc tccaaacacg ttttctttta atttcctctg ttgttttctg gctgttaact
    12781 atatggataa atggtaaaac ataattttca ttttttctag gcccctatga gagtggatat
    12841 gctatatttc tatagatgag gagttccaca tgtcagcaaa gcatttattt atttagtgaa
    12901 gtgactataa tattgacaca cagatttgca gcagcatcca aatcttgagg gggaaaaaaa
    12961 agcctttttc aatcaaatga aaccttttct gtgatggcac cagagaggtt tatatcttaa
    13021 gcacagaact gaacctgata atatgcttcc tttctagaaa caaagagata gaagaaattg
    13081 ctgaaggagc tggaagacca aaccatctat tccccaaatc attatgtatc aatagatact
    13141 tcaactctgt tccttaaatg gctctgaaaa acacaaataa ccatatttac tattaaaaac
    13201 aaattcataa tgtctaaccc aatcccttat tttaatatat atacatatta aaataatccc
    13261 atgtatatat gattattatt atatgggata tatatagttt acatatatat aggggtgtgt
    13321 gtgtatatat atatatatat ttacatatat atgtaaatgt atacttttta atgctgggga
    13381 tagttccata ttgtttcttt tcttgattcc ttctaatata ttcaatgaga tttataattt
    13441 ttttcacttt tatttcttta ggaaagagtt ggggtctatt atgaatgctt tctaggataa
    13501 aatggcaaaa cagatggaaa gtgtggtaga gggaggataa tgggaatagg aggcagagaa
    13561 cttgcacatt tctatttcct gctgagagat cttggaaaaa cattgtctgc cctttacctc
    13621 agtttcttaa catacaaaat agaactacta tcaaccccct gcatgccaca gagggttatt
    13681 tgagccctaa atgagatcat aactgttaac atactctgtg aactgtacag ggccagacaa
    13741 atagagccca ctctctgggc agttgcatac agtcttgctg ggtgctgagc tgagtgactg
    13801 agagccgctt ttgagacaca ttttgaggca tatcttccct aaatttttgc tggtgtctgt
    13861 tttttagaag ttttgccatt agcatttttt gctttgagta tctagtgatg gagaatgctc
    13921 taaaaaatac aaggagacag ggggattctt tatctatttg gcttagtcac tggaaaggga
    13981 caattagagt ttgttttcag gcttggaact ctgacatttt gtagcaaaat ggcatcttct
    14041 gctgcattta attccttgcc atcaactctt gctttcataa ggttctgtca atttcaacat
    14101 aatgctttgt aaaaatagga ctctgtgaaa ctttctctat aaatttggtg gtataactaa
    14161 tttttcaggg agcatctgaa gggataatga tttttaagtg gtaccctgtt catgccagga
    14221 ccagcatttg tacatgggaa aataatctta agatgagtga agagcaaatg ctagaccaca
    14281 cctttaatag gcccaagtgc caacaaaaat acgtgtgagt gggattccca cggagaaatg
    14341 tttctgaatg aaaatgaaac ccttgataat gaatcctgag gccagaatgc caaagtcaca
    14401 gtattctgtc atttacagcc cctaaaaaat cccaggtgtt tgtgatgaca agccactatt
    14461 ataagtactc tgtattagtg actacttggc aagtaaaatt ttctcaaatg ttatttttca
    14521 tagatctcca agcaacaatc acttgcagtg tatctgacaa aatgctatac atgattttct
    14581 aaaagtattt tgatcactcc agaaagaaat cagaataaag ctgcataccc caaatcctag
    14641 aaaattcaca aatattttgc tcaagttcag gctctctcag cttctctttt ctctttaact
    14701 tttgcctcat acagaggcaa tcttgatgac aaaagattgg gctcaatttt tgtttttctt
    14761 gtgtagaaaa gcaacacctc tgtttcggac tactgttcag tagacaaaaa gcatcccagc
    14821 tttcgaaatg agagtccaaa ttgggttacc actgagattt taaattatga tgtgaaattg
    14881 gagaaggtga actgtacagg gccagacaaa taatagagcc cactctctgg gcagttgcat
    14941 gcagtcttgc tgggtgctga gctgagagac tgagagccgc ttttgagacg tgttttgagg
    15001 catatcttcc ttaaattttt gctggtgtct gttttttaga agttttgcca ttagcatttt
    15061 tcactttgag tatctagcca tggagaatgc tctaaaaaat acaaggagac agggggatgc
    15121 tttatctatt tggcttagtc actggttcag ggtgaagttt cataatttat tctgataatc
    15181 tggaggggat gacctccttc acagtactgt taaagccttc cttgaacaag ctcatttcac
    15241 tatataactt cctaaagaca aggctgatta tttaaggatt tcagagatat catttgggga
    15301 ataactcacc aggtagagaa agtttgacct gatatgttaa caggcacaac aagaacttat
    15361 ttcaatgctt tctcaccatc tgccccttct ctgagagttt agcctttctt aggatacttc
    15421 cttttccagg ctagaaaaga ttgattgtat tcatatccca aagtaaaggc tcctccaatt
    15481 ctatcagatg tggaggcaac agaaaatgac tcatgttatt tttctctcac ttcacagcat
    15541 caagaactct tcttgtttat gtgggggcca tggtggatta gcttgaggaa ctgtcaaatt
    15601 aaaatgaaag gaaagcaagt tggggcaaga aaattctcac tctgaatgtg aaagaaaata
    15661 gcagtgttct tctctctggc aaagatttgt gtactgttgg gggaagattc atgttatttc
    15721 tcaggtagac tttacttttt gagattctgt gtgtgtgtgt gtgtgtgtgt gtgtatgtgt
    15781 gtgtgtgtgt gtgtattttg cctggtgggg ggttaaaggc agatagaatg tagttgttta
    15841 tgagtttata ctttctcttt agcataatag atgccctgtt tattttctca gaatgtgaca
    15901 ataaaattag gaaaggagag gaattcagag gcccatgttg cagttcatgg caaagtttta
    15961 cccaaatatt tccttcagaa acatttagtc atagcaagcc atataaatta ttgtctgcaa
    16021 ctggtatcag aaaaagaaat cagtaggtgg ggactgtaga ccccaatggt gcatctgttt
    16081 acaatctttc ttttccaagg ttttaaggtt catgaataac atgagggaat tttgggagag
    16141 ctaccacatc agtactttgg cacgcattaa ctgttccaca ggaaaactag ggttgcttca
    16201 gggctatttt tgtttgaaat gacacacata caaaaaaaaa aaaagacttt tggaacatgt
    16261 tttgaggcct gtcacctgaa atcagccttt gctgaaagag tatttagttt gataagcggg
    16321 atttcttgct tctcgcatcc cagagtgtaa attctgcagc gaagcctggg tgtatgtttt
    16381 cagcaccagg gacagcaaac aaccccctga attgaagggg cccgctatcc tgattgacct
    16441 cccagactag gaagggcagt tgttttgttt tcctttattt cctatctacc ggagcctcaa
    16501 cttggaagac tttattctta aggttcttac atctttcatt tattaccaag cctagcttag
    16561 ctgtctctgt cacattcttg acctcctaac aaatgggttt ggagtaacac tcccagctct
    16621 cctggctcag agaagtagaa agaaacacac tagacttcat ttgaagggca tgctttagag
    16681 taggctcccc ctacacaagt ctttataaca taccactgac ttgtaaaccc ctaaatgaag
    16741 gactgcttat acacaatcat tttcctttta acatttctgc acatttctca caatgtacaa
    16801 gtctatgttt gactcagtgt gcatctggag gcaatgtttc acagcagttg agcagaagct
    16861 atgaagtttg gggacagaaa aggtcccagt gatgctgctg ttattcattt tggagactca
    16921 ttgggggcac ttctctgatt ctcagcatcc acccttcaac cctgagtgct ctttaacagc
    16981 tgtttttgcc ttaaacaatc acaataagaa tgcaaatgac tccttgtggc attcttcagg
    17041 ccagactgaa gggtgtactg agaaaacaag ggtagcagaa gcacatgttg tcacattgct
    17101 ttgtgattgg ccagttttta tatagcacaa tgacacacag atatcatctt agagtcatca
    17161 ttgtctactc ttaactaatt gtcagcatct tctccactca tgtcaggatg aatcctgtgt
    17221 tgggaaggca agtcagtcac tgcaggtttc atcataaata ttgccttcta tctgacagat
    17281 gttagaaaac ctccattttg aatgcctctg taccatccaa ggctctgaat ttcccctata
    17341 tcttatccct ttctttccat tccctttcca tgttgcttat cataacatcc ataacattta
    17401 gtggtgtaag aaaataaggg gtttctttta ggaataaatg aggtggaaaa agtaggacag
    17461 agccagatct cagaggagca agttcagtgg aacgatgatt tctaacttgg gagtgggtct
    17521 aagatgtagc catccattcc ttccattcct tgtcctcttg agtgaatctc attccagtgc
    17581 tcacacttgc cctgcaaaaa aggccatggc acaagattct ctagattatt tgtatgaaga
    17641 ctggaggtga gcagcatcca acacctctgt tagagttctt tagaatagag gagttttgtc
    17701 ttatatttta atccaggaac cttcccatat ttaaaaagtt tagaaataat atgtacagaa
    17761 aggacctatg gggataggaa agcttaataa tacaagttat tttcccttag aacagagggg
    17821 aaggagctgc aaagtgactg ctaatggagg aacgatctgc tggctggggg aaatgtggcc
    17881 tgagactaga gatgcagagc aggcatctct agaaggagag atgatgccaa tagaagcccc
    17941 aggagggaac tggccagcga atacaatttt ataaagattc tcagtacttt ttctgaaaaa
    18001 attcctaaaa ttttcaaggg cgcgtctagc cctctgcctc tttagaggtg agctcagtgc
    18061 tacttctggg ttcttaaggc aaatgcccta caaacaccaa agtcttgtat tttccactct
    18121 cagccggcac tggctaagtg ggattttttt tttcccttcc ctaagtgaaa gggacttgtt
    18181 ttcaggagaa gtgtccttta aacatccagc taaaactgga agtaattttt tgcatgaatg
    18241 gctttttaca gctaggtcta cagcagaaca aaacttgtat taaactaagt gctactttac
    18301 atatcttatt tcaagggaaa tgaaggattt attgtcgtgt aaatgatata cactgatttg
    18361 tttcctactg gacattacat gtccctttat ctctaggctg atgttgtgca gcaaactttc
    18421 aatatctgga aaatcagctg gtacctactt cagtgcatta ttaggatatt acgttccctg
    18481 agaggaattt tgccaatgaa gtttaggtac tgttgtaact gatttccatc ccccctccct
    18541 aagcttctgt actaagtata tgtaaagcta ttatatcttg tctgatccca tgtgttcatg
    18601 tgtgtttccc aatgtttgca taaatatatt ggcaatctga agggttagct ggcttatggc
    18661 aactgctgaa caatggtatg tttggcatgt gggacacctg atacctgggc acacctgttc
    18721 tgaggccaag ctaattttac agattttgga aaagaaaaaa cagcagcaac aacaacagtg
    18781 tggcttgaat taaggaaagt ttaacaatga atacagtatt gccaagtcat catttatggg
    18841 tggagacgtt gaccacagca gttgaggtgc tttcaactgg atcttatgcc ctttatttta
    18901 atcccaattg atagttcctc atttgtattt tatgacttag aaatactcct acgtgatgct
    18961 cgtttgtttt tctcccaggc ttctggaaag tgctgatcat gattgcttcc tatcatttgg
    19021 atcccaaagt tgataactta acataagtga ctgaggtttt agtagaactg ggttttacta
    19081 atcgtatctc ctccttgagg tgctgttccc ttcattcctt tcctttatga caggtgaatg
    19141 cattggctat gctgatttta tttgcatcct ggcgagtctt ggagaatcaa tctcgttaaa
    19201 atgatgactg catttgcctt tggagaagag gtttattgtc taagtaaaac tcttatgtga
    19261 aggtgtcatt tatgtaaaaa aaaaaaaaaa ttctaacttg ataagatggc cacaggttag
    19321 aggggtgtgt tctcagttga tattaaggga tatgttgaaa aggcaagtgc ccaccctcta
    19381 ttcttcatct cacccttcct ttctccccaa cctcaaaaga aaacaaaaaa ttattttttt
    19441 aaattgtatt agtaatttat gtttaataca aaaggatgat ttaatggtat caccaaaggt
    19501 tgtttctccc attgtgcatg tccttcagtc tcggccccat acccatcacc ccattcttca
    19561 ccctcatgct tccatcccaa ggcaaacatg tgtcttcatc ggaatctatg ggtgttgaag
    19621 ttaaatgtgg gggcagagat ttaacaccat gacactaata caaatcaacc attcttcact
    19681 ttcaaatggt taatcactac aggaaggcga actcttttct tggtttttgt ttaaaaacat
    19741 tttatacata tatatgtata tatgtgtgtg tatgtatgga cataggtatg tatatgcaca
    19801 tgtacatgta tatatgtata tatccatctt caatataaat atatcataag tgagagttgt
    19861 aaatactcct tggtcatatg tctgtctttc tcatagtatc atatcttcaa tgttatgtta
    19921 acaactccat ttattgattg atgaaatcgt gtgtagacct gtatcctcct gacatagttt
    19981 atgtagggtc tcttctcaaa taaagtataa aacaacaa
//
LOCUS       NM_001012339            6107 bp    mRNA    linear   PRI 12-MAY-2023
DEFINITION  Homo sapiens DnaJ heat shock protein family (Hsp40) member C21
            (DNAJC21), transcript variant 2, mRNA.
ACCESSION   NM_001012339
VERSION     NM_001012339.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6107)
  AUTHORS   Morini J, Nacci L, Babini G, Cesaro S, Valli R, Ottolenghi A,
            Nicolis E, Pintani E, Maserati E, Cipolli M, Danesino C, Scotti C
            and Minelli A.
  TITLE     Whole exome sequencing discloses heterozygous variants in the
            DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with
            Shwachman-Diamond Syndrome carrying biallelic SBDS mutations
  JOURNAL   Br J Haematol 185 (3), 627-630 (2019)
   PUBMED   30198570
  REMARK    GeneRIF: Whole exome sequencing discloses heterozygous variants in
            the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients
            with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
REFERENCE   2  (bases 1 to 6107)
  AUTHORS   D'Amours G, Lopes F, Gauthier J, Saillour V, Nassif C, Wynn R, Alos
            N, Leblanc T, Capri Y, Nizard S, Lemyre E, Michaud JL, Pelletier VA,
            Pastore YD and Soucy JF.
  TITLE     Refining the phenotype associated with biallelic DNAJC21 mutations
  JOURNAL   Clin Genet 94 (2), 252-258 (2018)
   PUBMED   29700810
  REMARK    GeneRIF: We suggest that DNAJC21-related diseases constitute a
            distinct Inherited bone marrow failure syndromes (IBMFS) , with
            features overlapping Shwachman-Diamond syndrome and Dyskeratosis
            congenita, and additional characteristics that are specific to
            DNAJC21 mutations
REFERENCE   3  (bases 1 to 6107)
  AUTHORS   Warren AJ.
  TITLE     Molecular basis of the human ribosomopathy Shwachman-Diamond
            syndrome
  JOURNAL   Adv Biol Regul 67, 109-127 (2018)
   PUBMED   28942353
  REMARK    Review article
REFERENCE   4  (bases 1 to 6107)
  AUTHORS   Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M,
            Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie
            PR, Scherer SW, Rommens JM, Heon E and Dror Y.
  TITLE     Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome
  JOURNAL   Blood 129 (11), 1557-1562 (2017)
   PUBMED   28062395
  REMARK    GeneRIF: Biallelic mutations in DNAJC21 cause Shwachman-Diamond
            syndrome.
REFERENCE   5  (bases 1 to 6107)
  AUTHORS   Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S,
            Ellison A, Wynn R, Leblanc T, Fitzgibbon J, Kelsell DP, van Heel DA,
            Payne E, Plagnol V, Dokal I and Vulliamy T.
  TITLE     DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome
            to Corruption in 60S Ribosome Subunit Maturation
  JOURNAL   Am J Hum Genet 99 (1), 115-124 (2016)
   PUBMED   27346687
  REMARK    GeneRIF: findings demonstrate that mutations in DNAJC21 cause a
            cancer-prone bone marrow failure syndrome due to corruption of early
            nuclear rRNA biogenesis and late cytoplasmic maturation of the 60S
            subunit
REFERENCE   6  (bases 1 to 6107)
  AUTHORS   Miyamoto-Sato E, Fujimori S, Ishizaka M, Hirai N, Masuoka K, Saito
            R, Ozawa Y, Hino K, Washio T, Tomita M, Yamashita T, Oshikubo T,
            Akasaka H, Sugiyama J, Matsumoto Y and Yanagawa H.
  TITLE     A comprehensive resource of interacting protein regions for refining
            human transcription factor networks
  JOURNAL   PLoS One 5 (2), e9289 (2010)
   PUBMED   20195357
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 6107)
  AUTHORS   Kaltenbach LS, Romero E, Becklin RR, Chettier R, Bell R, Phansalkar
            A, Strand A, Torcassi C, Savage J, Hurlburt A, Cha GH, Ukani L,
            Chepanoske CL, Zhen Y, Sahasrabudhe S, Olson J, Kurschner C, Ellerby
            LM, Peltier JM, Botas J and Hughes RE.
  TITLE     Huntingtin interacting proteins are genetic modifiers of
            neurodegeneration
  JOURNAL   PLoS Genet 3 (5), e82 (2007)
   PUBMED   17500595
REFERENCE   8  (bases 1 to 6107)
  AUTHORS   Qiu XB, Shao YM, Miao S and Wang L.
  TITLE     The diversity of the DnaJ/Hsp40 family, the crucial partners for
            Hsp70 chaperones
  JOURNAL   Cell Mol Life Sci 63 (22), 2560-2570 (2006)
   PUBMED   16952052
  REMARK    Review article
REFERENCE   9  (bases 1 to 6107)
  AUTHORS   Chen J, Yin G, Lu Y, Lou M, Cheng H, Ni X, Hu G, Luo C, Ying K, Xie
            Y and Mao Y.
  TITLE     Cloning and characterization of a novel human cDNA encoding a
            J-domain protein (DNAJA5) from the fetal brain
  JOURNAL   Int J Mol Med 13 (5), 735-740 (2004)
   PUBMED   15067379
  REMARK    GeneRIF: molecular cloning
REFERENCE   10  (bases 1 to 6107)
  AUTHORS   Nelson,A. and Myers,K.
  TITLE     Shwachman-Diamond Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301722
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.89834.1, SRR1660809.2077.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000648817.1/ ENSP00000497410.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026801.7, BC065745.1,
            AY258422.1 and AC008795.7.
            This sequence is a reference standard in the RefSeqGene project.
            On May 11, 2018 this sequence version replaced NM_001012339.2.
            Summary: This gene encodes a member of the DNAJ heat shock protein
            40 family of proteins that is characterized by two N-terminal
            tetratricopeptide repeat domains and a C-terminal DNAJ domain. This
            protein binds the precursor 45S ribosomal RNA and may be involved
            in early nuclear ribosomal RNA biogenesis and maturation of the 60S
            ribosomal subunit. Mutations in this gene result in Bone marrow
            failure syndrome 3. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Feb 2017].
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            coding region, as compared to variant 1. The encoded isoform (2)
            lacks an internal segment, as compared to isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6107
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     gene            1..6107
                     /gene="DNAJC21"
                     /gene_synonym="BMFS3; DNAJA5; GS3; JJJ1"
                     /note="DnaJ heat shock protein family (Hsp40) member C21"
                     /db_xref="GeneID:134218"
                     /db_xref="HGNC:HGNC:27030"
                     /db_xref="MIM:617048"
     misc_feature    1..3
                     /gene="DNAJC21"
                     /gene_synonym="BMFS3; DNAJA5; GS3; JJJ1"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MRSGGRRHRPRRAPACRSLRRLPPPRAFTDLHHRRRRRRRRARWLARCGRRTPAGEDC
                     QRRRRRRFGPGPGPDPVPGPSAGRPPGRA"
     CDS             262..1857
                     /gene="DNAJC21"
                     /gene_synonym="BMFS3; DNAJA5; GS3; JJJ1"
                     /note="isoform 2 is encoded by transcript variant 2; JJJ1
                     DnaJ domain protein homolog; dnaJ homolog subfamily C
                     member 21; DnaJ homology subfamily A member 5; dnaJ homolog
                     subfamily A member 5; DnaJ (Hsp40) homolog, subfamily C,
                     member 21"
                     /codon_start=1
                     /product="dnaJ homolog subfamily C member 21 isoform 2"
                     /protein_id="NP_001012339.2"
                     /db_xref="CCDS:CCDS34144.1"
                     /db_xref="GeneID:134218"
                     /db_xref="HGNC:HGNC:27030"
                     /db_xref="MIM:617048"
                     /translation="MKCHYEALGVRRDASEEELKKAYRKLALKWHPDKNLDNAAEAAEQ
                     FKLIQAAYDVLSDPQERAWYDNHREALLKGGFDGEYQDDSLDLLRYFTVTCYSGYGDDE
                     KGFYTVYRNVFEMIAKEELESVLEEEVDDFPTFGDSQSDYDTVVHPFYAYWQSFCTQKN
                     FAWKEEYDTRQASNRWEKRAMEKENKKIRDKARKEKNELVRQLVAFIRKRDKRVQAHRK
                     LVEEQNAEKARKAEEMRRQQKLKQAKLVEQYREQSWMTMANLEKELQEMEARYEKEFGD
                     GSDENEMEEHELKDEEDGKDSDEAEDAELYDDLYCPACDKSFKTEKAMKNHEKSKKHRE
                     MVALLKQQLEEEEENFSRPQIDENPLDDNSEEEMEDAPKQKLSKKQKKKKQKPAQNYDD
                     NFNVNGPGEGVKVDPEDTNLNQDSAKELEDSPQENVSVTEIIKPCDDPKSEAKSVPKPK
                     GKKTKDMKKPVRVPAEPQTMSVLISCTTCHSEFPSRNKLFDHLKATGHARAPSSSSLNS
                     ATSSQSKKEKRKNR"
     misc_feature    1096..1194
                     /gene="DNAJC21"
                     /gene_synonym="BMFS3; DNAJA5; GS3; JJJ1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5F1R6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1108..1110
                     /gene="DNAJC21"
                     /gene_synonym="BMFS3; DNAJA5; GS3; JJJ1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q5F1R6.2);
                     phosphorylation site"
     misc_feature    1165..1167
                     /gene="DNAJC21"
                     /gene_synonym="BMFS3; DNAJA5; GS3; JJJ1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q5F1R6.2); phosphorylation site"
     misc_feature    1240..1683
                     /gene="DNAJC21"
                     /gene_synonym="BMFS3; DNAJA5; GS3; JJJ1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5F1R6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1369..1371
                     /gene="DNAJC21"
                     /gene_synonym="BMFS3; DNAJA5; GS3; JJJ1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q5F1R6.2); phosphorylation site"
     misc_feature    1765..1854
                     /gene="DNAJC21"
                     /gene_synonym="BMFS3; DNAJA5; GS3; JJJ1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5F1R6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1792..1794
                     /gene="DNAJC21"
                     /gene_synonym="BMFS3; DNAJA5; GS3; JJJ1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q5F1R6.2); phosphorylation site"
     regulatory      2154..2159
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC21"
                     /gene_synonym="BMFS3; DNAJA5; GS3; JJJ1"
                     /note="hexamer: ATTACA"
     polyA_site      2177
                     /gene="DNAJC21"
                     /gene_synonym="BMFS3; DNAJA5; GS3; JJJ1"
                     /note="major polyA site"
     polyA_site      2347
                     /gene="DNAJC21"
                     /gene_synonym="BMFS3; DNAJA5; GS3; JJJ1"
     regulatory      6085..6090
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC21"
                     /gene_synonym="BMFS3; DNAJA5; GS3; JJJ1"
                     /note="hexamer: AATAAA"
     polyA_site      6107
                     /gene="DNAJC21"
                     /gene_synonym="BMFS3; DNAJA5; GS3; JJJ1"
                     /note="major polyA site"
ORIGIN
        1 atgcgaagcg gcggccgccg gcaccgcccc cgccgcgctc ccgcttgccg cagcctgcgt
       61 cgtctgccgc caccgcgcgc cttcactgac ctacaccacc gccgccgccg ccgccgccgc
      121 cgggctcgct ggctggcccg gtgcgggcgg cggactcccg ccggagagga ctgccagcgc
      181 cgccgccgcc gccgcttcgg cccgggcccg ggccccgacc ccgtcccggg ccccagcgcc
      241 ggccgcccgc ccggtcgggc gatgaagtgt cactatgagg cgctgggggt gcggcgcgac
      301 gccagcgagg aggagctcaa gaaggcctat cggaagctgg ccctgaaatg gcacccggat
      361 aaaaatctgg ataatgccgc agaagcagct gaacaattta aattaatcca agcagcatat
      421 gatgtgttga gtgaccctca ggaaagagca tggtatgata atcatagaga ggccctactt
      481 aaaggtgggt ttgatggcga atatcaagat gacagcttag atttgctacg ctatttcacc
      541 gttacctgtt attctggtta tggagatgat gaaaagggat tttacacggt gtatcgtaat
      601 gtttttgaaa tgattgccaa ggaagaacta gaatctgtgt tagaggaaga ggttgatgat
      661 ttcccaactt ttggagactc ccagagtgac tatgatacgg tagtccatcc tttctacgct
      721 tattggcaga gtttctgcac tcaaaagaat tttgcatgga aggaagaata tgatacacga
      781 caggcttcaa accgctggga aaaacgagcc atggaaaaag aaaacaaaaa gattcgggac
      841 aaagcaagga aagagaagaa tgagcttgtc cgtcagctgg tagctttcat tcgtaaaaga
      901 gataaaagag tgcaggcgca tcgaaaactt gtggaagaac agaatgcaga gaaggcgagg
      961 aaagccgaag agatgaggcg gcagcagaag ctaaagcagg ccaaactggt ggagcagtac
     1021 agagaacaga gctggatgac tatggccaat ttggagaaag agctccagga gatggaggca
     1081 cggtacgaga aggagtttgg agatggatcg gatgaaaatg aaatggaaga acatgaactc
     1141 aaagatgagg aggatggtaa agacagtgat gaggccgagg acgctgagct ctatgatgac
     1201 ctttactgcc cagcatgtga caaatcgttc aagacagaaa aggccatgaa gaatcacgag
     1261 aagtcaaaga agcatcggga aatggtggcc ttgctaaaac aacagctgga ggaggaagaa
     1321 gaaaattttt caagacctca aattgatgaa aatccattag atgacaattc tgaggaagaa
     1381 atggaagatg caccaaaaca aaagctttct aaaaaacaga agaaaaagaa acagaaacca
     1441 gcacagaatt atgatgacaa tttcaatgta aatggacctg gagaaggagt aaaggttgat
     1501 ccagaagata ctaacttaaa tcaagacagt gccaaagaat tggaagatag tccccaggaa
     1561 aatgtcagtg tcacagagat cattaaacca tgtgatgatc caaaaagtga agctaaaagt
     1621 gttcctaaac ccaaaggaaa gaaaaccaaa gatatgaaaa aacctgtcag agtacctgct
     1681 gaaccacaaa caatgagtgt tcttatcagc tgtacaacct gccatagtga atttccatct
     1741 cggaataaac tttttgacca tctaaaggcc acaggtcatg caagagcacc ttcatcatcg
     1801 tctttaaaca gcgcaacaag tagtcaaagc aagaaagaga aacgtaaaaa cagatagaga
     1861 ttctgcctgt gcttttgttt gactgtctct agattttgaa accaaaaaac tgaactgaaa
     1921 tcatctaaag agttaaaatt tcagtgatct gcaattaatt acattgtgga agattatttt
     1981 ttatcttgta aaaacacttt tttggtttaa tatatatttt taaaacattt cactagtgat
     2041 tgaattctac ttttgccatc tgaattgact tgaatgtctt aaaacaggta aatactgtaa
     2101 agtgtgtatt cttgatgttt attggctcat gtggacagaa atgtacaggg agaattacat
     2161 tattttaaca cacagaagtg caactttctg ctttattttc tgaatttcac attactttta
     2221 cttaatgctt ttgtgttttg ttaatacttc ataatatgtg aaaaactcgg atcttttaaa
     2281 aagcatcata gatcattttt ccatatgaca ctggttccga ttttaaaaat tatttttaaa
     2341 taaccgatta ttgattactg tatttttttt ctcaagaaca gtgataggta gaaactaatt
     2401 gaacatttgg tagtctttca agaatagtgt ctcttcaagg ttttacttga tttaatttga
     2461 tattttactg gtttaccagt aaggtgtatt gttcagtttt ttgctccgat ttgaattgtg
     2521 gaggtggaag caaattagtt tacatggcat gtcctcccta ggcacagtga cagctgtaaa
     2581 gtatgacgga acaaggtagc agatggtaca gaatttatac tatttaagaa gagatgtggt
     2641 gttcttcatt gagttttttt cttcactatt ttcagaagtt tttgttcttt tttttttttc
     2701 catcactcag tggagaaaag ctttgttaat gaaagatttt gtgatagagc tgatgcttat
     2761 acatctattc tataacagtg atgaatatta acacaaagga aatatggaga actgttataa
     2821 ctgagtgtta gaacagtcgt gtacattgat cagtattgag tccattttta ggatggatta
     2881 gtcagttctt ttcattggtc ttgaaagtaa ttttggctgg tcgcggtggc tcacgcctgt
     2941 aatcccagca ctttgggagg ccgaggcggg cggatcacga ggtcaggaga tcgagaccat
     3001 cccggctaaa acggtgaaac cccgtctcta ctaaaaatac aaaaaattag ccgggcgtag
     3061 tggcgggcgc ctgtagtccc agctacttgg gaggctgagg caggagaatg gcgtgaaccc
     3121 gggaggcgga gcttgcagtg agccgagatc ccgccactgc actccagcct gggcgacaga
     3181 gcgagactcc gtctcaaaaa aaaaaaaaaa aaaaaaaaga aagtaatttt aaactcactg
     3241 gcttgaaatg tgtgctttct gtacaatgaa gttattgctt tccatatatc cttgaatctt
     3301 cagattaacg aaatgaacaa attttcggtt acagatcagc tctcaaacac taaagtcctt
     3361 aatggcaagg tcttttctga tagcttcatg gatagtattg atgatcagat ttcttctgtg
     3421 ttattgtctt aaaaataagc atttgaacct taatttaaat tcttttcttt tccatttaga
     3481 gatatgtttt tttctttacc ttcatacctt tctatttctt gctaatttct atcactaatt
     3541 ccttataatt gtccctgctc cccttcttga tctcttcagg gggaatacta ggcagttttg
     3601 tatcttctga tctcgtaccc tgagacttca tctgaatgtg ctctgccgcc ttcttatctg
     3661 aactagatga attggccata attatgaata ggaatattaa tgaaccagag gacatactag
     3721 tcacatgtta ttatacacta aaaaatagga agtcatcttg aaaggcagtt aatgtactgc
     3781 aaatgtccct atgacttctt tgctttctct tataccaaac atgcaggtat ttaatttgtt
     3841 taatgagggt tgagtggagt tatgtgtcgc ttttattcgg attgacgaaa atcaaccata
     3901 attttcaagg gatcttcatg ggttgtgact ggaagctgac cttagtcttg cgtctcatcc
     3961 tttatgatgt tgagaaatca tctaatttct cagaactttt tcttatctct aacacagtta
     4021 ttaccataat aatattgtct ccatttatca tacaggatca ttatgaaagt aaaatgaagt
     4081 agtatatatg aaaatgcttt ttaaacacaa aagctttata caaaatattg ttgaatttaa
     4141 ataaggtaaa tcttttttag tttatatatt tgcagactat acatgttgga ttaaatgggc
     4201 aattaagttt tataggaatt tgcttcctaa gtctactttt gaagaggaaa acaggaacgt
     4261 accatatatt ttgctaaggg taaaatattt ttggtgaatt gcagacattt aatttcactt
     4321 gtctgaggta aaacaataaa ctaaaataca tgggcatgca tcttacactg atcttattag
     4381 aggtcagtgc taagtaccca tcttgattga agttagctca gatgtggaga ttcatagaat
     4441 gagggtccag gagaagaaag ttaggggaaa tctcattttc tttctgtaat tcattcagtg
     4501 gtgccaaagc tgggggttcc ctacaatggc tatttagact ttccctgctt caaaataaga
     4561 gcagtatcct tagctctagc caagcatttt tctaattcct gcctttggtc acaaagaagg
     4621 aaaagcagag ctgtgaatga gttagtggag gtcaagtcac atcagagttc atgacctagt
     4681 gattgctggt gaagtaatat tggaattttg gtaccatgag aagacttata aaggatttca
     4741 tcagaagttt tcattttttc taaatcctcc cctacaaaat tttcagattg gaaattactc
     4801 ttgtatttgt agaagattgt ctctaaaatt gtggtttaac tcacgcagga agtaaaattc
     4861 ctatagcaag acatagtttc attttagagg acccccaaaa tcccgtgaat tctctggtga
     4921 tgattctagc ctaaccttca acataaaata atgaagagaa cttttaaact tttttatgaa
     4981 ttcctaaaca ttaccattta tgtggcagaa gttctgttcc ctataatctg caatgctgaa
     5041 gtatctctat tcaattccct tccttatctg ttaaatttaa tgtctttata ctaaaaatat
     5101 aggctcttgg gattggagag gaaaaattag aggtgatttt cagatttctt gttctatgga
     5161 agaggaagct gagctcaggg agatatgagc tccacagcca cagctggtta ggggcggctg
     5221 ccagtagaac agggcagatg cctggactcc caactcagta ggccttctgt tacacctcaa
     5281 aatgtgttac atgggaagaa aaagattaag aaaaagcaag ataattttga agaaggacga
     5341 gaggaagagg catgaacttg tcctaacaat gtcaaagaat attttaaagg tataccagtt
     5401 aaagtagtgt gtggctggtg ccagtagagg tcagtcaagg gatccctgac gagaataaag
     5461 agcccagaaa caggtccatg tttatatggg aacttgattt ttgacagata cggcaagctc
     5521 tatggggaaa acaatatgta ctaccttata cccttcccca aaaacaaagg gattaaagac
     5581 ctaaatatga agacaaaact tttaaatgag aatctataag gttattttca tgattttgca
     5641 aatgggaagg atttctttaa agcaagacac aaaagcatac acaggaaaaa atgatgcata
     5701 aaaacatggc ttctgtagaa caatagagac tgtaaaagaa caagctacag acaaggaaat
     5761 gtttgcaatg catggaactg tcaaaggatt cgtatctgga atacattaaa gaagcaaaag
     5821 aacctcatac aaaagtcatt gagtaaatga cagccatgca ttagaacagc aattctcaaa
     5881 acttttggtc tcaagatccc tttacactct tcaaaagtga gaaccccaaa gagttttcat
     5941 gtatgtgggt taaatctatt gatattttct gttagaattt aaaaattatg ttaaaaaaat
     6001 aagaagaatg actatttttc aaaacaaaaa atgagaagag tggtattgtt ttacattttt
     6061 acaaatctct ttaacattta gcttaataaa agatagctgg cctctca
//
LOCUS       NM_001012361            4871 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens WD repeat domain 31 (WDR31), transcript variant 1,
            mRNA.
ACCESSION   NM_001012361
VERSION     NM_001012361.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4871)
  AUTHORS   Luke MM, O'Meara ES, Rowland CM, Shiffman D, Bare LA, Arellano AR,
            Longstreth WT Jr, Lumley T, Rice K, Tracy RP, Devlin JJ and Psaty
            BM.
  TITLE     Gene variants associated with ischemic stroke: the cardiovascular
            health study
  JOURNAL   Stroke 40 (2), 363-368 (2009)
   PUBMED   19023099
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 4871)
  AUTHORS   Shiffman D, O'Meara ES, Bare LA, Rowland CM, Louie JZ, Arellano AR,
            Lumley T, Rice K, Iakoubova O, Luke MM, Young BA, Malloy MJ, Kane
            JP, Ellis SG, Tracy RP, Devlin JJ and Psaty BM.
  TITLE     Association of gene variants with incident myocardial infarction in
            the Cardiovascular Health Study
  JOURNAL   Arterioscler Thromb Vasc Biol 28 (1), 173-179 (2008)
   PUBMED   17975119
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 4871)
  AUTHORS   Altwegg,M. and Kubli,E.
  TITLE     The nucleotide sequence of phenylalanine tRNA2 of Drosophila
            melanogaster: four isoacceptors with one basic sequence
  JOURNAL   Nucleic Acids Res 7 (1), 93-105 (1979)
   PUBMED   114987
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.311274.1, BC022982.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374193.9/ ENSP00000363308.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA209351.1, AK093240.1,
            AL449305.4 and AI091187.1.
            On Nov 23, 2018 this sequence version replaced NM_001012361.3.
            Summary: This gene encodes a member of the WD repeat protein
            family. WD repeats are minimally conserved regions of approximately
            40 amino acids typically bracketed by gly-his and trp-asp (GH-WD),
            which may facilitate formation of heterotrimeric or multiprotein
            complexes. Members of this family are involved in a variety of
            cellular processes, including cell cycle progression, signal
            transduction, apoptosis, and gene regulation. Multiple
            alternatively spliced transcript variants encoding distinct
            isoforms have been found for this gene but the biological validity
            of some variants has not been determined. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4871
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q32"
     gene            1..4871
                     /gene="WDR31"
                     /note="WD repeat domain 31"
                     /db_xref="GeneID:114987"
                     /db_xref="HGNC:HGNC:21421"
     misc_feature    172..174
                     /gene="WDR31"
                     /note="upstream in-frame stop codon"
     CDS             241..1344
                     /gene="WDR31"
                     /note="isoform 1 is encoded by transcript variant 1; WD
                     repeat-containing protein 31"
                     /codon_start=1
                     /product="WD repeat-containing protein 31 isoform 1"
                     /protein_id="NP_001012361.1"
                     /db_xref="CCDS:CCDS35110.1"
                     /db_xref="GeneID:114987"
                     /db_xref="HGNC:HGNC:21421"
                     /translation="MLLLRCQLKQAPPQKVSFRFCVVMGKQQSKLKHSTYKYGRPDEII
                     EERIQTKAFQEYSPAHMDTVSVVAALNSDLCVSGGKDKTVVAYNWKTGNVVKRFKGHEH
                     EITKVACIPKSSQFFSASRDRMVMMWDLHGSSQPRQQLCGHAMVVTGLAVSPDSSQLCT
                     GSRDNTLLLWDVVTGQSVERASVSRNVVTHLCWVPREPYILQTSEDKTLRLWDSRGLQV
                     AHMFPAKQHIQTYCEVSVDGHKCISCSNGFGGEGCEATLWDLRQTRNRICEYKGHFQTV
                     ASCVFLPRALALMPLIATSSHDCKVKIWNQDTGACLFTLSLDGSGPLTSLAVGDAISLL
                     CASFNRGIHLLRMDHSQGLELQEVAAF"
     misc_feature    397..510
                     /gene="WDR31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NA23.1);
                     Region: WD 1"
     misc_feature    520..636
                     /gene="WDR31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NA23.1);
                     Region: WD 2"
     misc_feature    649..765
                     /gene="WDR31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NA23.1);
                     Region: WD 3"
     misc_feature    775..891
                     /gene="WDR31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NA23.1);
                     Region: WD 4"
     misc_feature    901..1032
                     /gene="WDR31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NA23.1);
                     Region: WD 5"
     misc_feature    1045..1173
                     /gene="WDR31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NA23.1);
                     Region: WD 6"
     misc_feature    1183..1299
                     /gene="WDR31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NA23.1);
                     Region: WD 7"
     regulatory      4847..4852
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR31"
                     /note="hexamer: AATAAA"
     polyA_site      4871
                     /gene="WDR31"
                     /note="major polyA site"
ORIGIN
        1 gttcccaccc ccaggctccg cgttcccgcc ggccccagct ccagccccgc agcccaccgt
       61 gcaaacatgc ttagacagag aagagattaa cttcagtggc ttcccactaa ttacagagat
      121 taagaagtgg ctgcctgaac tattttccaa aggatacaca ttacaaatta ttgaataggg
      181 cagctaacca agaagatcct attggtttgg ggggaacaca acttccagca gccacaaggg
      241 atgctgctac tcaggtgcca actgaaacaa gctcctccac agaaggtttc gtttaggttt
      301 tgtgtcgtga tggggaaaca gcaaagcaaa ctcaaacaca gcacttataa atacggcagg
      361 cctgatgaaa ttatagaaga gagaattcaa actaaagctt ttcaagagta tagcccagct
      421 cacatggata ccgtctctgt cgtggctgct ttgaactcag acctttgtgt ctctggaggg
      481 aaagataaga cagttgtggc ctataattgg aaaactggaa atgtggtgaa aaggttcaaa
      541 ggacatgaac atgagatcac caaggtagcc tgtattccca aatccagcca gttcttcagt
      601 gcctctcgtg acaggatggt catgatgtgg gacttgcacg gttcctcaca accaaggcag
      661 caattgtgtg gccatgccat ggtggtcacc ggattggctg tgagtccaga ctcatcacag
      721 ctgtgcactg gctctcggga caacaccctg cttctgtggg atgtggtgac aggacagagt
      781 gtggaaagag catctgtctc caggaacgtg gtcactcacc tgtgctgggt ccccagagaa
      841 ccatacatac tacagacctc tgaagataaa accctcagat tatgggacag tcgggggctg
      901 caggtagctc atatgtttcc tgcaaagcag cacattcaga cctactgtga agtcagtgtg
      961 gatggacaca agtgtatctc ctgcagcaat ggctttggag gagaaggctg tgaagccacg
     1021 ttgtgggacc taagacagac tcgaaacaga atatgtgagt ataaggggca tttccagact
     1081 gtcgcatcct gcgtctttct accaagagca ttggccttga tgcctttaat tgctacctca
     1141 tcacatgatt gcaaggtgaa gatttggaac caagatactg gagcctgcct tttcaccttg
     1201 tctctggatg gatcaggacc cttgacttct ctggctgttg gtgacgccat ctccttattg
     1261 tgtgcaagtt ttaacagagg aattcactta ctcagaatgg accacagcca agggctggaa
     1321 ctgcaggaag tggcagcatt ctgaggccaa gagacactca ctggacaata tcaaaccatg
     1381 gctcctcctc agcatggctt tgtgtctttc ccagttatct tgaggggagt gggatgtagg
     1441 gctggtattc tttgcttagg ttcatttaca agatgtatca gtgttgtaag tccaataatt
     1501 taagtccagt gattcaaaat caggtataga gtccagaaac atggactaca cataaggttc
     1561 tctatttaag ttaaatacaa atgcaacttt ttagtgagct tttaggacta ctcttcaaaa
     1621 aaagtgtatt gctcagaatg atgacctgta aatgtaagag tggcaggcct ctgtctgtga
     1681 aagtcagaac acagggctcg agcctctgga actgaccctt tgcaagtctt tacaaaagaa
     1741 aaaaggcagt ggggagagag agtgttttgg ttacatcaga aataattgag atgggaaaga
     1801 atagtgcagc tccatagagg agacggactg tagacaatga gattaagctt caatcactgc
     1861 tcctcagcaa tgtgaagaat caaagtcagg gcaagaaagc gaaagcttgg acttctattc
     1921 aaagtggcag cagagtggga gggcggtacc cttctagccc agtgctgctg agcttgtgtg
     1981 aaaatcagac ctgagatggc ttgaagcagc caagaaccac atgggcattg cccagaatta
     2041 caggagttag cacaccagct ctacagataa gaaaacattg aaattcaaag attaaggcca
     2101 aaaatatctc acttgcaatt ttaatatttt catttggatt tatataaatg aaacatatat
     2161 atgttttgga atggccagag tgaggcaaag gggatccctg aaataacatt agaacataca
     2221 ggaaaaacga ggcaggcaga tcactttagg tcaggagttc aagaccagcc tgtacgtgcg
     2281 tgcctgtagt cccagctact cgggaggctg agatgggaga atcacttgaa cctgggaggc
     2341 agagtttgca gtgagctgag attgtgccac tgcactccag tctgtgtgac agaatgagac
     2401 cttgtcttga aaaaaaaaaa aacaaaaaac cacatacagg aaaaaagaga gggatggagt
     2461 caactgtgcc ccagacatta agcccccttc agtgaggagg ggcaaggtgc tcaggcctgc
     2521 ctgtgtggcc cccaggagtc agacctcagc ctcatgctca ctggtccatt ttcctccagg
     2581 gaaaatggag ttctttctgc cttcagagat gcccacacat aaggcacatg aggctgttgg
     2641 tgacaccatc accaacactg gagattccct ttctgacaag tcccagccaa agaaagattt
     2701 tgcatttgtc ttctctgtcc tctgcttgtc tctgatacca gtgactgaca gccaccttcc
     2761 ttcttccctc tcttggtgtg atcatggcta actgcagcct caatcaccag ggctcaatca
     2821 atcctccctc cttagcctcc tgagtagctg ggactgcagg catgcaccac cacacctggc
     2881 taattttttg tgtgtttgtg tggtctaaaa ctcctgggct caagtgatcc atctgcctcg
     2941 gcctccttaa gtgttgagat tacaggtatg agccaccaca tccagctgag agtctgttct
     3001 taagctagta caaagagtca gacccgactt tgaatctcca cttctccatt tagctggatg
     3061 atcttgggca agttataaaa tctgtttcct cttcacttta taacgtgggt ttcatgatca
     3121 tacctcgcca cagggctgtt ctgaagactg gacatagcta ttttaaatgc caggaaaggc
     3181 caggcgcagt ggctcaaacc tgtaatccca gcactttggg aggccgaggc aggaggatca
     3241 cctgaggtca ggagtttgag accagcctga ccaacatgga gaaaccccgt ctctactaaa
     3301 aatacaaaaa ttagccaggc gtggtggtgc atgcctgtaa tcccagctac ctggggagcc
     3361 tgaggcggga gaatcgcttg aacccaggag gcggaggttg cggtgagccg agattgtgcc
     3421 attgcactcc agcctgggca acaagagcga aactccatct caataaataa ataaataagt
     3481 aaatgccagg aaaggtggtg acaaatggta gccataatta tttattgtcc tctctgtcca
     3541 gactaaatgt tcccttttcc atattaaaca tttaccattc tgccggacgc gttggctcat
     3601 gcctgtaatc ccagcacttt gtgaggccta ggcgggcaga tcacaaggtc aagagatcga
     3661 gaccatcctg gccaatatgg tgaaaccccg tctctactaa aaatacaaaa attagctggg
     3721 tgtggtggtg cccgcctgta gtcccagcta ctcaggaggc tgaggcagga gaatcgcttc
     3781 aaccggggag gcagaggttg cagtgagctg agattgtgcc attgcactcc agcctaggca
     3841 acagagagag actctatctc aaaataaaat aaaataaaat aaaataaaat aaacgtttac
     3901 cattccttga tccttttttt tttttttttt tttgagatgg aatcttgctc tgtcgcccag
     3961 gctggagtgc agtggtgcaa tctcggctcg ctgcaagctc cgcctcccgg gttgacgcca
     4021 ttctcctgcc tcagcctccc gaatagctgg gactacaggc gcccgccatc acgcccggct
     4081 aatttttttg tgtttttagt agagacggga tttcaccgtg ttagccagga tggtctcaat
     4141 ctcctgacct cgtgatccgc ccgcctaagt gctgggatta caggcgtgag ccactgcgcc
     4201 cggcctcctt catccattct tagatcttat cctctaaacc tttagtcatc gtttcactct
     4261 cctttgattc cttgttatgg gtctttcaac tctggaaaga caaagagata gtgggagagg
     4321 aagcccggtc actgagcatc tacagagggc taaatatatt tattctcatt tgttattccc
     4381 aatattctct gtattgtgat ttccatttca cagatgagga agctgagggc tagaaacatg
     4441 cagtactttg cccaaagtca cacacatatt aagaagagct gaggtatgaa tctgggtctg
     4501 cctgactcaa agcccaaacg ctttcctttg catcgtgtca caaagtcata gaccatgaca
     4561 ttgtttgtat cttcaagacc agttattaac tttctggctc caaggagatc ccctgcccaa
     4621 gtgcctaggg gcagtagaca gctgtctcag ggacagtcgt agcatgtgct ggattattag
     4681 tgcagcagct gacacttttt cccagaaggg agagaggcag caagtcagaa agttcacggg
     4741 aatgagttgg gagggggtcc cagggaaggg ggacaggctg ccaggagaag gaaagtacac
     4801 gggagaaaat agtggggctc tgatgagtta gtagggttct gttaccaata aaattgtttc
     4861 cataaactgt a
//
LOCUS       NM_001012393            6406 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens opioid binding protein/cell adhesion molecule like
            (OPCML), transcript variant 2, mRNA.
ACCESSION   NM_001012393
VERSION     NM_001012393.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6406)
  AUTHORS   Khamko R, Wasenang W, Daduang J, Settasatian C and Limpaiboon T.
  TITLE     Combined OPCML and AXL Expression as a Prognostic Marker and OPCML
            Enhances AXL Inhibitor in Cholangiocarcinoma
  JOURNAL   In Vivo 36 (3), 1168-1177 (2022)
   PUBMED   35478117
  REMARK    GeneRIF: Combined OPCML and AXL Expression as a Prognostic Marker
            and OPCML Enhances AXL Inhibitor in Cholangiocarcinoma.
REFERENCE   2  (bases 1 to 6406)
  AUTHORS   Khamko R, Daduang J, Settasatian C and Limpaiboon T.
  TITLE     OPCML Exerts Antitumor Effects in Cholangiocarcinoma via AXL/STAT3
            Inactivation and Rho GTPase Down-regulation
  JOURNAL   Cancer Genomics Proteomics 18 (6), 771-780 (2021)
   PUBMED   34697068
  REMARK    GeneRIF: OPCML Exerts Antitumor Effects in Cholangiocarcinoma via
            AXL/STAT3 Inactivation and Rho GTPase Down-regulation.
REFERENCE   3  (bases 1 to 6406)
  AUTHORS   Lian B, Li H, Liu Y, Chai D, Gao Y, Zhang Y, Zhou J and Li J.
  TITLE     Expression and promoter methylation status of OPCML and its
            functions in the inhibition of cell proliferation, migration, and
            invasion in breast cancer
  JOURNAL   Breast Cancer 28 (2), 448-458 (2021)
   PUBMED   33108608
  REMARK    GeneRIF: Expression and promoter methylation status of OPCML and its
            functions in the inhibition of cell proliferation, migration, and
            invasion in breast cancer.
REFERENCE   4  (bases 1 to 6406)
  AUTHORS   Antony J, Zanini E, Birtley JR, Gabra H and Recchi C.
  TITLE     Emerging roles for the GPI-anchored tumor suppressor OPCML in
            cancers
  JOURNAL   Cancer Gene Ther 28 (1-2), 18-26 (2021)
   PUBMED   32595215
  REMARK    GeneRIF: Emerging roles for the GPI-anchored tumor suppressor OPCML
            in cancers. Review article
REFERENCE   5  (bases 1 to 6406)
  AUTHORS   Fang X, Dong Y, Yang R and Wei L.
  TITLE     LINC00619 restricts gastric cancer progression by preventing
            microRNA-224-5p-mediated inhibition of OPCML
  JOURNAL   Arch Biochem Biophys 689, 108390 (2020)
   PUBMED   32359894
  REMARK    GeneRIF: LINC00619 restricts gastric cancer progression by
            preventing microRNA-224-5p-mediated inhibition of OPCML.
REFERENCE   6  (bases 1 to 6406)
  AUTHORS   Li C, Tang L, Zhao L, Li L, Xiao Q, Luo X, Peng W, Ren G, Tao Q and
            Xiang T.
  TITLE     OPCML is frequently methylated in human colorectal cancer and its
            restored expression reverses EMT via downregulation of smad
            signaling
  JOURNAL   Am J Cancer Res 5 (5), 1635-1648 (2015)
   PUBMED   26175934
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 6406)
  AUTHORS   Shark KB and Lee NM.
  TITLE     Cloning, sequencing and localization to chromosome 11 of a cDNA
            encoding a human opioid-binding cell adhesion molecule (OBCAM)
  JOURNAL   Gene 155 (2), 213-217 (1995)
   PUBMED   7721093
REFERENCE   8  (bases 1 to 6406)
  AUTHORS   Struyk AF, Canoll PD, Wolfgang MJ, Rosen CL, D'Eustachio P and
            Salzer JL.
  TITLE     Cloning of neurotrimin defines a new subfamily of differentially
            expressed neural cell adhesion molecules
  JOURNAL   J Neurosci 15 (3 Pt 2), 2141-2156 (1995)
   PUBMED   7891157
REFERENCE   9  (bases 1 to 6406)
  AUTHORS   Smith MW, Clark SP, Hutchinson JS, Wei YH, Churukian AC, Daniels LB,
            Diggle KL, Gen MW, Romo AJ, Lin Y et al.
  TITLE     A sequence-tagged site map of human chromosome 11
  JOURNAL   Genomics 17 (3), 699-725 (1993)
   PUBMED   8244387
REFERENCE   10  (bases 1 to 6406)
  AUTHORS   Lane CM, Elde R, Loh HH and Lee NM.
  TITLE     Regulation of an opioid-binding protein in NG108-15 cells parallels
            regulation of delta-opioid receptors
  JOURNAL   Proc Natl Acad Sci U S A 89 (23), 11234-11238 (1992)
   PUBMED   1333602
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX537377.1, SRR14038194.4499803.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000524381.6/ ENSP00000434750.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP004606.4, AP005122.2,
            AP000863.4 and AP000843.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 16, 2020 this sequence version replaced NM_001012393.4.
            Summary: This gene encodes a member of the IgLON subfamily in the
            immunoglobulin protein superfamily of proteins. The encoded
            preprotein is proteolytically processed to generate the mature
            protein. This protein is localized in the plasma membrane and may
            have an accessory role in opioid receptor function. This gene has
            an ortholog in rat and bovine. The opioid binding-cell adhesion
            molecule encoded by the rat gene binds opioid alkaloids in the
            presence of acidic lipids, exhibits selectivity for mu ligands and
            acts as a GPI-anchored protein. Since the encoded protein is highly
            conserved in species during evolution, it may have a fundamental
            role in mammalian systems. Alternative splicing results in multiple
            transcript variants, at least one of which encodes an isoform that
            is proteolytically processed. [provided by RefSeq, Jan 2016].
            Transcript Variant: This variant (2) represents use of an alternate
            promoter and therefore differs in the 5' UTR and 5' coding region,
            and lacks an alternate in-frame exon in the 3' coding region
            compared to variant 3. The encoded isoform (b) is shorter and has a
            distinct N-terminus compared to isoform c. The encoded isoform (b)
            may undergo proteolytic processing similar to isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6406
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q25"
     gene            1..6406
                     /gene="OPCML"
                     /gene_synonym="IGLON1; OBCAM; OPCM"
                     /note="opioid binding protein/cell adhesion molecule like"
                     /db_xref="GeneID:4978"
                     /db_xref="HGNC:HGNC:8143"
                     /db_xref="MIM:600632"
     misc_feature    157..159
                     /gene="OPCML"
                     /gene_synonym="IGLON1; OBCAM; OPCM"
                     /note="upstream in-frame stop codon"
     CDS             178..1194
                     /gene="OPCML"
                     /gene_synonym="IGLON1; OBCAM; OPCM"
                     /note="isoform b precursor is encoded by transcript variant
                     2; IgLON family member 1; opioid binding protein/cell
                     adhesion molecule-like preprotein"
                     /codon_start=1
                     /product="opioid-binding protein/cell adhesion molecule
                     isoform b precursor"
                     /protein_id="NP_001012393.1"
                     /db_xref="CCDS:CCDS31722.1"
                     /db_xref="GeneID:4978"
                     /db_xref="HGNC:HGNC:8143"
                     /db_xref="MIM:600632"
                     /translation="MYHPAYWVVFSATTALLFIPGVPVRSGDATFPKAMDNVTVRQGES
                     ATLRCTIDDRVTRVAWLNRSTILYAGNDKWSIDPRVIILVNTPTQYSIMIQNVDVYDEG
                     PYTCSVQTDNHPKTSRVHLIVQVPPQIMNISSDITVNEGSSVTLLCLAIGRPEPTVTWR
                     HLSVKEGQGFVSEDEYLEISDIKRDQSGEYECSALNDVAAPDVRKVKITVNYPPYISKA
                     KNTGVSVGQKGILSCEASAVPMAEFQWFKEETRLATGLDGMRIENKGRMSTLTFFNVSE
                     KDYGNYTCVATNKLGNTNASITLYGPGAVIDGVNSASRALACLWLSGTLLAHFFIKF"
     sig_peptide     178..264
                     /gene="OPCML"
                     /gene_synonym="IGLON1; OBCAM; OPCM"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      6384..6389
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OPCML"
                     /gene_synonym="IGLON1; OBCAM; OPCM"
                     /note="hexamer: AATAAA"
     polyA_site      6406
                     /gene="OPCML"
                     /gene_synonym="IGLON1; OBCAM; OPCM"
                     /note="major polyA site"
ORIGIN
        1 agagacgctg cctgcctgct cccatctctc gcgcgctctc tctctcttct gctctctccc
       61 tccctttgca aacattggat ttaaacctgc tcagaattca gcacagagga aggcagcagc
      121 ggtagcagca gcagaagcag tagcaagccc ggcagctgag agcaccgcag cgtcgagatg
      181 taccatcctg cctactgggt cgtcttctcg gcgacaactg ccctgctctt catcccagga
      241 gtgcccgtgc gcagcggaga tgccaccttc cccaaagcta tggacaacgt gacggtccgg
      301 cagggggaga gcgccaccct caggtgtacc atagatgacc gggtaacccg ggtggcctgg
      361 ctaaaccgca gcaccatcct ctacgctggg aatgacaagt ggtccataga ccctcgtgtg
      421 atcatcctgg tcaatacacc aacccagtac agcatcatga tccaaaatgt ggatgtgtat
      481 gacgaaggtc cgtacacctg ctctgtgcag acagacaatc atcccaaaac gtcccgggtt
      541 cacctaatag tgcaagttcc tcctcagatc atgaatatct cctcagacat cactgtgaat
      601 gagggaagca gtgtgaccct gctgtgtctt gctattggca gaccagagcc aactgtgaca
      661 tggagacacc tgtcagtcaa ggaaggccag ggctttgtaa gtgaggatga gtacctggag
      721 atctctgaca tcaagcgaga ccagtccggg gagtacgaat gcagcgcgtt gaacgatgtc
      781 gctgcgcccg atgtgcggaa agtaaaaatc actgtaaact atcctcccta tatctcaaaa
      841 gccaagaaca ctggtgtttc agtcggtcag aagggcatcc tgagctgtga agcctctgca
      901 gtccccatgg ctgaattcca gtggttcaag gaagaaacca ggttagccac tggtctggat
      961 ggaatgagga ttgaaaacaa aggccgcatg tccactctga ctttcttcaa tgtttcagaa
     1021 aaggattatg ggaactatac ttgtgtggcc acgaacaagc ttgggaacac caatgccagc
     1081 atcacattgt atgggcctgg agcagtcatt gatggtgtaa actcggcctc cagagcactg
     1141 gcttgtctct ggctatcagg gaccctctta gcccacttct tcatcaagtt ttgataagaa
     1201 atcctaggtc ctctgagcaa cgcctgcttc tccatatcac agactttaat ctacactgcg
     1261 gagagcaaac cagcttgggc ttctttttgt ttttttctgt tattctagat ttgttttctt
     1321 tttgtttttg tttatttgtt tgtttgcttt tatttccagc ttgaatgagt ggggttgggg
     1381 gcggggtggg cagggttcta ccacgtgtag gataatcatt cattggtgtg tccaaaaatg
     1441 gggtctgctc ctgctacctt gacccttccc tttcctctgc ttctctcctc atcatcattc
     1501 ccaacaacat cctctgccac acacaacaaa acgtaagttt catttgggca aaaattgagc
     1561 ctcacaataa acaccctgaa gacacaactt gacttataac atagtgcaca gcaagagcta
     1621 catccaagtg tcctattatc tgtgattatt ttcttaatga caatgtacat atgcccccat
     1681 ccatgttaat tattatctaa ttccattagg gttcacgtct tttctttctg ggacactatc
     1741 ctactatatc catatctata gatttcaata tagatgattg tgccatcttc tgtagcccct
     1801 ccgctctact cattccttcc accatctgca gagatttgaa gtttggggct atgcatgaaa
     1861 cccaacacta aattttgcaa gtcaagtaac caaaaaaggg ggaggcattt tgaagataga
     1921 acctctattt taaaaagaga agttcaactc ataaacgtga ttgataggtg gctgatttat
     1981 ttaggttttg tcaagctatc tatcaaagta atggtacagt tacccatcta ctcaaatatc
     2041 tgatttatct caccatccaa ttatctaccc acctgtcttc ctctctagca atctatttac
     2101 tgtttatcaa tctatcaatg taattgtcta acactccttt ctattctctc cctactactc
     2161 actatcaatt catccccata tgaatctcta accatattgt atctctccca ctgtattcat
     2221 ttatacacca tcagcagaca ttggcatctt caaaattatc tttcaacttc tgtgaaagcc
     2281 aacgatctca caggttaaca aaatacaaaa gcaataccct gtgttgtgga ctctttaaaa
     2341 tctggtatcc tatccaccca agggagacac taacagatag gccaaagtag caagctaatg
     2401 atcagtcact cactattccc agaagagcct gtgttttcta aaacactttc ttgggaagca
     2461 gatcagccta gaaaagtttt gattagcact gtggttttcc ttttgcactt gaaggacaaa
     2521 ggtgccagcc tttatgcttc tctcaaccct tcaagaaagt acatgtcagg aacctatggc
     2581 tggctttcct tagcagcaag aacttgagag aaaaacacat ctgtctctgc aatgcaaagt
     2641 gaagagtcca cccgcctgag tgggatgact tcagctagag tctcctttct gctccagttc
     2701 tggtttaatc tgtttgaaaa ctatccagta aaaagctgat ggaggccaat tacatggcgg
     2761 gtgtattgac aactctggta tttgtttcag gaagctcttc taagctgagg gcacttgagc
     2821 aactgactta attttcaagc acttgattaa cacaacactg caaacagaag ggagaaagtg
     2881 tcagtgacac agtttcctct gatgcagctg cttctccaat ggctttgggg aagaacttca
     2941 ccagctcttc aggttcaaag cagacccagc atacaaacaa gagctgagcc acctttgctg
     3001 tcttgtctcc tgggacgaga aggactcatc cagcaaagtt gcctgggatt caaaataaag
     3061 gcattgcaga ccgcacaggt gtgctgcagg gactgatcca cagagaggat gagaatgcag
     3121 catcaatcgc agacctgccc tgcctcagtt ggaaaacctt ttcaggccct cagtctaaaa
     3181 aataaaaaat atgagcacca ttgaattctg tgcccttaat gcttaactgg tcttcttcct
     3241 ctggtatcag tgtcctcttt gtttttgtcc atcaaggcac atgagtgtga cctctgccat
     3301 ggggaaacac acacagagat atctatacat atatacatac atacaaacat aggctatctt
     3361 ggcacactaa atgctaagca ctgtcttaag aggtagagct ggtgtgagtg aaattaatgt
     3421 tacattttcc agctgtaaac agacatctgc atttcctagt gagctgccag gagccagatt
     3481 cgggaaccgt aactgatgtg ccaggaatgg tgcattgatt cccagttcca gggatgatca
     3541 tgagcaggcg caaaatcaga attaaaggtc gcacatagac gtttcagatc tgtcaccacc
     3601 ttcagcatct ggagttgagt tggtgtcaga tagtgtatga gaattaaatg tgtcatctga
     3661 gcatgctact gatgataaat ttgttacttt ggagttgaat aaatgtgaag gctgtgaaga
     3721 gtggacagtc ttggagaaca cagtgcttga aatggacaag ctggacctat tcctcactcc
     3781 aagacttgtt ctacaggaaa gggtccatgc tcctttggcc aagatcatca gaacctctca
     3841 acccaacaag gctggcttca gggccactat ggaaccctgc tgttccccct tccaaaggat
     3901 actaagatgc ccctctggtg ggtacctatc ccagccacgt ttcagaggga gagaaatgct
     3961 acagttgatc ctcatctgtc tggggtaaag acaacaaagt aaatacaacc caaggcaact
     4021 ggggtactca ctgggagtga aaatgacttc ttcacaacag acatatttct gcttctgtgt
     4081 ttttgtgttt ctttggtggg gatggcttca tgggagagtg gctgtcaccc atcattttga
     4141 agcatataga acaacaaatg cttacacaag acaatatcca cacttttcca acttcacaca
     4201 cggagagtac atggagaatg cctacaggct agatttgttc agggtgccag tagtgggcat
     4261 ggggtggggg caaggcagga caaaacatac aagtctgagc aagtacatct cttgcaggtt
     4321 ttccacatga aaaggaagcc aaataagtcc tgttaggaga ttaggtgaga ggaattagca
     4381 atgtagggac tctgaaaccc ttccccttcc caaaacagag ttcatatgca cttccaccaa
     4441 agtaatgcca atgaaagtgc tcgtgttaag gctgcagcca agcttgtttt tcagtagttt
     4501 aatgtcaagt gcctgataca gtcgactgca agtctaaaca agcatgttta gtttttctca
     4561 ttcttgcttt aattcaggga gggggagatg tagagaagtg gttgtgaaaa catgtacagg
     4621 ctttatgcag agcactgcgc atggctgttc tgctgcaact gtgctccacg aaacagaaga
     4681 aaaggtaagg tgttgtgtca caaagaggcc ccagtctctt tcttcttaca tccatgcctc
     4741 ttactagatg atacatttac agattgggca gtttgttctc aaaacctggg tgagaagact
     4801 attcctggac tctagcaact tcaaaactga ggctgggttt cagaatcttt ttctgcatca
     4861 attcagtcaa tttgccttca acaaagagaa gtcagcaagt tctatttatg ctgaaagaac
     4921 tattccatga gaaaagcaga gaaccccaaa gtgggcaggc aaccccgacg agagcttatc
     4981 cctgtggcgg catcaggagt ggctgtacat tgaattttca agtgctggtt ggctgtcgcc
     5041 agcccatggt aggaggggag gaatggctta agatgaggta agatctggtg gtggggcatc
     5101 tttcctcaat tccatactga ctttgatctt gagaaagaaa aactggctat gcattaccta
     5161 aaaccagtcc aaaatgaaac agaccaacac acacacaaaa gcaaattgtc aatccctttg
     5221 gaattaaggg aagcagcata aggtttttct ttttggaaaa aatgcattta ttttcttttt
     5281 ctccaacagc aagaatcttt tgttttcatt ttgcacgtga ccttatcttg gaaactctta
     5341 tacccaattg cctcccctcc tattattcag agcttccctg tctttttact tgaagacaaa
     5401 taagtttgag cacttgagta aaacttcaca ggtgtgtaag taggaaggca acattttcaa
     5461 aaagagacca tatgatgaga acgcctaatg atcaccacat gcaaacaaac aaaactgcca
     5521 gtctcatttc ccacatttct tacttaagag aagagaagta aatgaaagga agaagaaata
     5581 gatttgtaat taaagatgtg gcaaaaaaga tagggctgag ccagttcaat ttagccttca
     5641 ggtgcagaat acttagagtc caaagaaatg tggagtggac ttaattagat gcagttgtct
     5701 ttatcctgaa agtagtgagc taagcctaat ttccagcatt ttgaaagaga ttcctttttg
     5761 tttctttcca tggtgccctc tttaaggcac agagttgctc cacaccactg ggtggagaaa
     5821 gaaagattgc gaaccctcga ccatcctttt gaggctacat tctatgttat ttggcagatt
     5881 tataaagcta tcagtaataa caatgctatg tactgcaagc tgcccttgtg ttagttaaag
     5941 ggagcatttt taatcgttcg gaaattttcg tgacatgtca agtgcagttg tgaggactgt
     6001 gtgggtgaac gaaaatgtgt ctgtcaagtt cagagtcctt tagatttaaa aaaaaattat
     6061 gacttatcaa tggtgccgtt atagctgtgt cagacaatgg gtgtgcccat tctcacaatt
     6121 atccttcaaa aaaaatctat gttcaaatgc tttaaaaatt tatcacacga tacaagagta
     6181 tgactttgtc agccttctag agttcttttt ttcttttatt ttctttcgta ttttttcctt
     6241 caaaaaatca atgaagactt gatttctgtc aataattgta tcaagggtga atatactacc
     6301 tgaattttgt gcatgttaca ttgtagttgt aaccttttct aattcaggat gaatacgaga
     6361 tggttgtgat tgtgcagtgt accaataaag ttcgagaaat ttgtaa
//
LOCUS       NM_001012416             561 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens keratin associated protein 5-6 (KRTAP5-6), mRNA.
ACCESSION   NM_001012416
VERSION     NM_001012416.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 561)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 561)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 561)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (bases 1 to 561)
  AUTHORS   Yahagi S, Shibuya K, Obayashi I, Masaki H, Kurata Y, Kudoh J and
            Shimizu N.
  TITLE     Identification of two novel clusters of ultrahigh-sulfur
            keratin-associated protein genes on human chromosome 11
  JOURNAL   Biochem Biophys Res Commun 318 (3), 655-664 (2004)
   PUBMED   15144888
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AB126075.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000382160.1/ ENSP00000371595.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB126075.1.
            On Feb 23, 2005 this sequence version replaced XM_498505.1.
FEATURES             Location/Qualifiers
     source          1..561
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..561
                     /gene="KRTAP5-6"
                     /gene_synonym="KRTAP5.6"
                     /note="keratin associated protein 5-6"
                     /db_xref="GeneID:440023"
                     /db_xref="HGNC:HGNC:23600"
     CDS             52..441
                     /gene="KRTAP5-6"
                     /gene_synonym="KRTAP5.6"
                     /note="keratin-associated protein 5.6; ultrahigh sulfur
                     keratin-associated protein 5.6"
                     /codon_start=1
                     /product="keratin-associated protein 5-6"
                     /protein_id="NP_001012416.1"
                     /db_xref="CCDS:CCDS31332.1"
                     /db_xref="GeneID:440023"
                     /db_xref="HGNC:HGNC:23600"
                     /translation="MGCCGCSGGCGSGCGGCGSGCGGCGSSCCVPICCCKPVCCCVPAC
                     SCTSCGSCGGSKGCCGSCGGSKGGCGSCGGSKGGCGSCGCSQCSCCKPCYCSSGCGSSC
                     CQSSCCKPCCSQASCCVPICCQCKI"
     misc_feature    133..387
                     /gene="KRTAP5-6"
                     /gene_synonym="KRTAP5.6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6L8G9.1);
                     Region: 6 X 4 AA repeats of C-C-X-P"
     misc_feature    406..417
                     /gene="KRTAP5-6"
                     /gene_synonym="KRTAP5.6"
                     /note="6; propagated from UniProtKB/Swiss-Prot (Q6L8G9.1);
                     Region: Repetitive region"
ORIGIN
        1 cctccctctc acctgctcct ctacctgctc caccctcaat ccaccagaac catgggctgc
       61 tgtggctgct ctggaggctg tggctccggc tgtgggggct gtggctctgg ctgtgggggc
      121 tgtgggtcca gctgctgtgt gcccatctgc tgctgcaagc ccgtgtgctg ctgtgtgcca
      181 gcctgttcct gcaccagctg tggctcttgt gggggctcca aggggtgctg tggctcttgt
      241 gggggctcca aagggggctg tggctcttgt gggggctcca agggaggctg tggctcttgt
      301 ggctgctccc agtgcagttg ctgcaagccc tgctactgtt cctcaggctg tgggtcatcc
      361 tgctgccagt ccagctgctg caagccctgc tgttcccagg ccagctgctg tgtccccatt
      421 tgctgccagt gcaaaatctg aggctctgac tttggacctc aggtgagtcc agcatatcca
      481 caccacccaa gaagtgacca gtgctgcatt tcagttctgg ctgtcccaca gctccaggag
      541 ttgtgtcccc tgaattttgc a
//
LOCUS       NM_001012417             949 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens membrane spanning 4-domains A13 (MS4A13), transcript
            variant 1, mRNA.
ACCESSION   NM_001012417
VERSION     NM_001012417.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 949)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 949)
  AUTHORS   Yu B, Zheng Y, Alexander D, Manolio TA, Alonso A, Nettleton JA and
            Boerwinkle E.
  TITLE     Genome-wide association study of a heart failure related metabolomic
            profile among African Americans in the Atherosclerosis Risk in
            Communities (ARIC) study
  JOURNAL   Genet Epidemiol 37 (8), 840-845 (2013)
   PUBMED   23934736
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY324188.1, BC140799.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378186.7/ ENSP00000367428.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001034.5 and AY324188.1.
            On May 17, 2019 this sequence version replaced NM_001012417.2.
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..949
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.2"
     gene            1..949
                     /gene="MS4A13"
                     /note="membrane spanning 4-domains A13"
                     /db_xref="GeneID:503497"
                     /db_xref="HGNC:HGNC:16674"
     misc_feature    297..299
                     /gene="MS4A13"
                     /note="upstream in-frame stop codon"
     CDS             345..803
                     /gene="MS4A13"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; testis-expressed transmembrane-4 protein;
                     testis-expressed transmembrane protein 4; membrane-spanning
                     4-domains subfamily A member 13"
                     /codon_start=1
                     /product="membrane-spanning 4-domains subfamily A member 13
                     isoform 1 precursor"
                     /protein_id="NP_001012417.2"
                     /db_xref="CCDS:CCDS31571.1"
                     /db_xref="GeneID:503497"
                     /db_xref="HGNC:HGNC:16674"
                     /translation="MIGIFHIFMWYFLLVLYMGQIKGAFGTYEPVTYKTGCTLWGIFFI
                     IAGVFLIRVTKYPTRSGIISTLIINIICIITTITAVTLTIIELSHFNSVSYRNYGQAKL
                     GREVSRILLFFYGLEFSIALTHSIYSCSNLFRRQNDLTSVTEEAESTP"
     sig_peptide     345..413
                     /gene="MS4A13"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    345..407
                     /gene="MS4A13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5J8X5.2);
                     transmembrane region"
     misc_feature    438..500
                     /gene="MS4A13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5J8X5.2);
                     transmembrane region"
     misc_feature    540..602
                     /gene="MS4A13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5J8X5.2);
                     transmembrane region"
     misc_feature    675..737
                     /gene="MS4A13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5J8X5.2);
                     transmembrane region"
ORIGIN
        1 gtcactccct gaggagcctg agagccggcc gggtgctggg ctcctggcta tccctgtgat
       61 ggtagctcag cgagatctgg ggacctggcg ctgagcgcgt tgccagccgg gatcttcctc
      121 ttcatctagg cctgggcgct ggcgtgagaa ctcggactgg gtcctggacg agcgcccccc
      181 gaaactcctt ggaaccttga acaagtaaaa tgcaggaagt ttgctaataa agacatcacc
      241 aaaggttaaa gagaaaatca tctagaggaa atgctggcag tatggcatgt gttctttaac
      301 aaatctctac agcagattct ctcgttttag ggactatcca gattatgatt ggcatctttc
      361 acattttcat gtggtacttt ctattggttt tgtatatggg acaaattaaa ggagcctttg
      421 gaacgtatga acctgtaact tacaaaacag gatgtacttt atggggaatt ttttttatca
      481 ttgcaggagt cttcctaata agagtaacaa agtatccgac tcgatctgga attataagta
      541 ctttaatcat aaacatcatc tgcataatta ctacaattac tgcagtaact ctaacaataa
      601 tagagttgtc tcattttaat tctgtgtcat acaggaatta tggacaagca aaacttggga
      661 gggaagtatc acgtatttta ctgttcttct acggtttgga attttctatt gcacttacac
      721 actcaatata cagctgttcc aatttgtttc gaagacaaaa tgatcttaca tctgttactg
      781 aggaagctga gagcactcct taaaaaccct agaaatatga gaattttgct gttgctgatg
      841 cctggtgtgg gtcctaatga tatctctgta taacaaagca gttacgaagc ctacagattt
      901 tgtgcaaaat aaaatacaaa caaggtgaat ttttctcctc attcaaaaa
//
LOCUS       NM_001012418            5754 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens myosin light chain kinase family member 4 (MYLK4),
            transcript variant 1, mRNA.
ACCESSION   NM_001012418
VERSION     NM_001012418.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5754)
  AUTHORS   Yang M, Zhang T, Zhang Y, Ma X, Han J, Zeng K, Jiang Y, Wang Z, Wang
            Z, Xu J, Hua Y, Cai Z and Sun W.
  TITLE     MYLK4 promotes tumor progression through the activation of epidermal
            growth factor receptor signaling in osteosarcoma
  JOURNAL   J Exp Clin Cancer Res 40 (1), 166 (2021)
   PUBMED   33980265
  REMARK    GeneRIF: MYLK4 promotes tumor progression through the activation of
            epidermal growth factor receptor signaling in osteosarcoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5754)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   3  (bases 1 to 5754)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 5754)
  AUTHORS   Hong KW, Kim SS and Kim Y.
  TITLE     Genome-wide association study of orthostatic hypotension and
            supine-standing blood pressure changes in two korean populations
  JOURNAL   Genomics Inform 11 (3), 129-134 (2013)
   PUBMED   24124408
REFERENCE   5  (bases 1 to 5754)
  AUTHORS   Taipale M, Krykbaeva I, Koeva M, Kayatekin C, Westover KD, Karras GI
            and Lindquist S.
  TITLE     Quantitative analysis of HSP90-client interactions reveals
            principles of substrate recognition
  JOURNAL   Cell 150 (5), 987-1001 (2012)
   PUBMED   22939624
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX647582.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000274643.9/ ENSP00000274643.7
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK096893.1, BX647582.1, AK122581.1, AL138876.23 and BU675945.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001012418.4.
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the shorter isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5754
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.2"
     gene            1..5754
                     /gene="MYLK4"
                     /gene_synonym="SgK085"
                     /note="myosin light chain kinase family member 4"
                     /db_xref="GeneID:340156"
                     /db_xref="HGNC:HGNC:27972"
     misc_feature    174..176
                     /gene="MYLK4"
                     /gene_synonym="SgK085"
                     /note="upstream in-frame stop codon"
     CDS             300..1466
                     /gene="MYLK4"
                     /gene_synonym="SgK085"
                     /EC_number="2.7.11.1"
                     /note="isoform 1 is encoded by transcript variant 1; caMLCK
                     like; sugen kinase 85"
                     /codon_start=1
                     /product="myosin light chain kinase family member 4 isoform
                     1"
                     /protein_id="NP_001012418.2"
                     /db_xref="CCDS:CCDS34330.1"
                     /db_xref="GeneID:340156"
                     /db_xref="HGNC:HGNC:27972"
                     /translation="MLKVKRLEEFNTCYNSNQLEKMAFFQCREEVEKVKCFLEKNSGDQ
                     DSRSGHNEAKEVWSNADLTERMPVKSKRTSALAVDIPAPPAPFDHRIVTAKQGAVNSFY
                     TVSKTEILGGGRFGQVHKCEETATGLKLAAKIIKTRGMKDKEEVKNEISVMNQLDHANL
                     IQLYDAFESKNDIVLVMEYVDGGELFDRIIDESYNLTELDTILFMKQICEGIRHMHQMY
                     ILHLDLKPENILCVNRDAKQIKIIDFGLARRYKPREKLKVNFGTPEFLAPEVVNYDFVS
                     FPTDMWSVGVIAYMLLSGLSPFLGDNDAETLNNILACRWDLEDEEFQDISEEAKEFISK
                     LLIKEKSWRISASEALKHPWLSDHKLHSRLNAQKKKNRGSDAQDFVTK"
     regulatory      5734..5739
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYLK4"
                     /gene_synonym="SgK085"
                     /note="hexamer: AATAAA"
     polyA_site      5754
                     /gene="MYLK4"
                     /gene_synonym="SgK085"
                     /note="major polyA site"
ORIGIN
        1 tgagagagaa gatacttcct ctcgtagtgg acacttgtct tttcagaaga tttatacgac
       61 tgagagtcaa aacttttacc agagactttc atagtcagtt tgaattctgc aaaatttctc
      121 tttatcttct ggaatgtatg ctctagactt ggagtggctc aagctcttcg atgtgatcct
      181 atcaatgtca agagaaagaa gcactgaaga gtcataattg tgtcctgatt tataaatcgg
      241 agacagaggg agacgaaaac cacactccag aaagtagctt aatcggactc actactaaga
      301 tgttaaaagt gaagaggctg gaagaattca acacgtgtta taacagcaac cagctggaga
      361 aaatggcctt ttttcagtgc agggaagagg tggagaaagt gaagtgtttt ctggaaaaaa
      421 attctgggga ccaggattca agatctggac ataatgaggc gaaggaggtg tggtcaaacg
      481 ccgacctgac ggaaaggatg cccgtcaaaa gcaaaaggac atcagccctc gcagttgaca
      541 tcccggctcc tccggcccca tttgatcatc gtattgtgac agccaagcaa ggagcggtca
      601 acagcttcta tactgtgagc aagacagaaa tcctaggagg agggcgtttc ggccaggttc
      661 acaagtgtga ggagacggcc acaggtctga agctggcagc caaaatcatc aagaccagag
      721 gcatgaagga caaggaggag gtgaagaacg agatcagcgt catgaaccag ctggaccacg
      781 cgaacctcat ccagctgtac gatgccttcg agtctaagaa cgacattgtc ctggtcatgg
      841 agtatgtgga tggtggggag ctgtttgacc gcatcatcga tgagagctac aatttgacgg
      901 agcttgatac catcctgttc atgaagcaga tatgtgaggg gataaggcac atgcatcaga
      961 tgtacattct ccacttggac ctgaagcctg agaatatcct gtgtgtgaat cgggatgcta
     1021 agcaaataaa aattattgat tttggattgg ccagaagata caaacccaga gagaagctga
     1081 aggtgaactt tggaacccca gaatttctcg cccctgaagt tgtgaactat gattttgttt
     1141 catttcccac tgacatgtgg agtgtggggg tcatcgccta tatgctactt agcggtttgt
     1201 cgcctttcct gggtgacaat gatgctgaga cgctgaacaa catcctggcc tgcaggtggg
     1261 acttagagga tgaagaattt caggacatct cggaggaggc caaggagttc atctctaagc
     1321 ttctgattaa ggagaagagt tggcgaataa gtgcaagcga agctctcaag cacccctggt
     1381 tgtcagacca caagctccac tccagactca atgcccagaa gaagaagaat cgtggctctg
     1441 atgcccagga ctttgtgacc aaatagtcta caggaggcag ccatttggaa ggaaaactgc
     1501 tgtggttgct gctgcttcga gaaaattttt tgaaaaatca gcagttctga tgccttgacc
     1561 cctgtgatga cctggtagtc ttagcagggg gagccctcga ccctgaatgt gaacttgaac
     1621 tggagtgcct ctgctgcgct cagaggaaca cccagcgctg cggtctggtc tcagggcgca
     1681 aacacatccc tgcacccggt ggtggtgatg ttgggaagat gtttccctgc catcttgaga
     1741 ttttttactt ttttaaaaaa attttttgat cttagtcact ggggcagggg gtgcattatg
     1801 tctgccattt ctcaaatgac tacagctgtg acacttaaga ttgattggag attttaaaac
     1861 tggaggatgc atttagaggg agaaagctac ttccagccat tagactatgc ctttggaagg
     1921 ggcaattaga tggccagaaa gaattctgac tcccatgcac ccttggagac ttagtttcac
     1981 agactctgtc attttgattt ggtctgtggt cacgtgacta caatggataa ataatttgtt
     2041 tgctggaaca gaagccgtct ttgaattctc caacaagagg catcagccac tgtgtctttc
     2101 atttattctg aattgtcccc agcgtgcgtt ttcttccatg tagctgattc tgtttttcac
     2161 atctatactc cctgcaccct tctgactgac agttcatccc cacaaaacac attggttttg
     2221 agaggtgatg caaaaagtat ctgtttatgg ttggactttg aaattctgac ctttgaaata
     2281 atgtcaacag tcacaacagg tttcctcaag ccccatttgt caactaaaag agacggatct
     2341 gcacctcctg gagcaagata gcactgagct ttcaacattg aagtgacttg ggaaataaca
     2401 ttcaagcttc tgggtaaaca catacaaaca gtggcaaaga ccaagtacag tctctcgcct
     2461 gtgctgtctc atgggactca atggtggtga agaaatctca atcggacacc agaggtgggg
     2521 gcaactctgc aagctcacct gctggacgtg agaatgttgg aacgttccag ttggaaggtt
     2581 cctatgccta gcctgtgtgc catttcatgg cagatatgta agaaaggaaa tggccctact
     2641 gtagacagct tatggggccc agaaaggcac tgggctttaa agagcgaaat gagtgtgtca
     2701 tttccacatg aaggagaggc aaggaaaagc cccacaaaat tcctgttacc cgctgaactc
     2761 caagctcacc aaccagattc atgagctttc tcacattttc catttccaaa taactgttgt
     2821 gttgaatcag ctgtgttaat gcctttattc tttgtttttt ttttttagac ggagtctcgc
     2881 tctgtcacga ggctggagtg cagtggcccc atctcggctc actgcaacct ccgcctccca
     2941 ggttcaagcg attctcctgc agcctcccga gtagctggga ttacaggcgc acgccaccac
     3001 gcacggctga tttttgcatt tttagtagag atggggtttc tccatgttgg ccagaatggt
     3061 ctcaattact gttgtcgcaa tagcaatgaa aggcataaga attacttggt ggcctcatga
     3121 gggatggcag tttcactttg catcagcttt cccccattat ctctcagatc cacttaagga
     3181 atccttacag catgccgtga atgtgtgcaa catccttatt ctcatcttta aggtaaggag
     3241 gaagtagaga tagaaggaaa tacgtgattt ggtgaaggcc acatgcgaat tttgtggtcg
     3301 tgttagttat aaaactgact cctttccagc ctttgctctt acattatgat gcgtttcttt
     3361 ttctcctttg gccttgcatt tatccgaggt tggtttctta tgttcctgtg atgtgactat
     3421 gcttaagtgt ttaatttagt ttgcttaaaa cacacacacc acacacacac acacacacaa
     3481 aaccctgtga ctggagtgtt atattactat gctatcttta gctgatgata ttcattgagc
     3541 ctggaaaaat acaagccagt gcatgcatta atacttagtt agaccgcaga gagctggcat
     3601 tcactcaaat gctaaacagg acacaggggt ctgatttgaa gcccctcgtg gcagggcgtt
     3661 ttctgtcctg tggtgtgcat tctctaccaa atcaagcagg agatcttttg cacgacgtgc
     3721 aatttgcatc caccttccct tctgactcag gttggcagat aaactgtccc cagaccctgc
     3781 cacacatgga agagacagct caggccaaat acaggcatga tttctttgcc aagttaatgc
     3841 actgatgacc ctgcagtgag tgggtgtgat ttttgttttg ttttgaggtt tagaaaggag
     3901 actgtacttt gaaaatggat cttgtttgat tctgtagtta aatttccaca tttggaatgg
     3961 gaaggcatct ccatgccagc agggtgcctt ttatatgagt gctgagggta gtttgcattg
     4021 cagagttcat gattacagtc tagagttact tgaaatggga gattatcagt ctagtgttca
     4081 tcccgcccct gctccatgtc cttgtgtggc tgctccagcg agagctggta actaggtaga
     4141 ctgctgctct aatggggaaa gggggctttg caaagccgag gaatcaagcc agatgcgagc
     4201 atggactcag aaaagctgag tctggctaga ccagggctat ggagatcaat ttttccaaca
     4261 ggtcattagg atttgggagg ctgtatttct cctccaccct cttaatggat ggtatggctt
     4321 tgctcactca ctaggcagtt cccactttct ttagcaaatg gaggaaatta agcaccgatg
     4381 tagcacttcc cactgcctgg agagaaataa acctcgcaag ttattaagga gaaggcatgc
     4441 ctcattggta atttggaaga caccaacact tacccagaat ctgttgctat ttaaaaatca
     4501 gggagaggag ggcacatgtc cccatttgct acattacaaa ctttggacga gactctcatc
     4561 tgaactaact tggggaaaca atttctaggt tgaagctggt aacactcatg tctgttgagt
     4621 gccataagtt tgttttcagt tatttcctct aacttgatat taatttgctt tctttcctca
     4681 aaaatgtaag taggcatgtt gccattgttg tggcttgctt tgatgtatgt ttggaaagat
     4741 gtgtgaatac ttaattttta tccattttat ggaaattagc ttagcaattt ttttttctct
     4801 tttaagaatc aaaatatgga tttgatacta ggaacagaat ctgctcttta tttcattcct
     4861 tttttgtctc ttctgcttcc tctgcccctc ccccagccac gcagcacggg tgccagtgtg
     4921 catgcgtgtg ctgggggcca aatgacagaa ccccggttga aagtccgctt gtaaaagcac
     4981 aagtgagagg cagcatcagg cccctggagg gctgtggtcc tcggactcgg ttctttcctg
     5041 tcccctggcc gtcctgtcat ccctgtgtgc tgcagcatca ccacggccta cttcccaata
     5101 tccacaaagc ttcgcctttg cttttgcact ctcttttaca tttttttact tctttccttt
     5161 ttcttaagtt cggatccaag tttgtcttct tatccatcac catgctccct gaaagccttt
     5221 ttgagattaa gaaattttct taccaggagg caactttccg tctgtcctaa agggaagtgg
     5281 gtgctggatt tattagatat tgggttcctg gattaagatg acttcctcac atagcttgga
     5341 gtctgcagtt tctcagttag aagtgttcta tatttctttt tgctccattt tagtgcgctg
     5401 tgctttgtat aagtggtctt tctatgggca gtttcacctt ccatgaaggc ttataactca
     5461 accactacta cccattcaga agagcagaaa gcatctgctg tgtgagcgtt catatgttac
     5521 ctaatgtgta ttttgctgtc gtctcagctg atagatgtca gtgagtcttt ctgactaggt
     5581 ttattggtgt tgataagaaa ttaaaaaaag gattcataac gtggtgattg tgtctatcat
     5641 gtatatttta aatttctgaa cgtactttca tttagctgtt tttctttgct ttctaaagat
     5701 gtataacaat catgtatatg tattatattg aagaataaac atggacctta ttta
//
LOCUS       NM_001012425             855 bp    mRNA    linear   PRI 28-MAY-2023
DEFINITION  Homo sapiens chromosome 1 open reading frame 146 (C1orf146), mRNA.
ACCESSION   NM_001012425
VERSION     NM_001012425.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 855)
  AUTHORS   Liu H, Huang T, Li M, Li M, Zhang C, Jiang J, Yu X, Yin Y, Zhang F,
            Lu G, Luo MC, Zhang LR, Li J, Liu K and Chen ZJ.
  TITLE     SCRE serves as a unique synaptonemal complex fastener and is
            essential for progression of meiosis prophase I in mice
  JOURNAL   Nucleic Acids Res 47 (11), 5670-5683 (2019)
   PUBMED   30949703
REFERENCE   2  (bases 1 to 855)
  AUTHORS   Zhang Q, Ji SY, Busayavalasa K and Yu C.
  TITLE     SPO16 binds SHOC1 to promote homologous recombination and
            crossing-over in meiotic prophase I
  JOURNAL   Sci Adv 5 (1), eaau9780 (2019)
   PUBMED   30746471
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 855)
  AUTHORS   Ersland KM, Havik B, Rinholm JE, Gundersen V, Stansberg C and Steen
            VM.
  TITLE     LOC689986, a unique gene showing specific expression in restricted
            areas of the rodent neocortex
  JOURNAL   BMC Neurosci 14, 68 (2013)
   PUBMED   23844656
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 855)
  CONSRTM   International Human Genome Sequencing Consortium
  TITLE     Finishing the euchromatic sequence of the human genome
  JOURNAL   Nature 431 (7011), 931-945 (2004)
   PUBMED   15496913
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.192384.1, BU567193.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370375.8/ ENSP00000359401.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL451010.4, BU567193.1 and AA861282.1.
            On Nov 23, 2018 this sequence version replaced NM_001012425.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..855
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.1"
     gene            1..855
                     /gene="C1orf146"
                     /gene_synonym="SCRE; SPO16"
                     /note="chromosome 1 open reading frame 146"
                     /db_xref="GeneID:388649"
                     /db_xref="HGNC:HGNC:24032"
                     /db_xref="MIM:618968"
     misc_feature    117..119
                     /gene="C1orf146"
                     /gene_synonym="SCRE; SPO16"
                     /note="upstream in-frame stop codon"
     CDS             174..716
                     /gene="C1orf146"
                     /gene_synonym="SCRE; SPO16"
                     /note="uncharacterized protein C1orf146; synaptonemal
                     complex reinforcing element"
                     /codon_start=1
                     /product="protein SPO16 homolog"
                     /protein_id="NP_001012425.1"
                     /db_xref="CCDS:CCDS30772.1"
                     /db_xref="GeneID:388649"
                     /db_xref="HGNC:HGNC:24032"
                     /db_xref="MIM:618968"
                     /translation="MAESGKEKIKWTTTIIISSSLKSYEVATALENRSHKVRYSDSVEN
                     GSIIFSLSGVAFLLMDTKECLLSTEEIFLAKIEKFINIHQNSFLVLSAALHGPEEWKLM
                     FRIQQRFLGCNLRILPVHNTVNAINLMCTIAKTTSKPYIDSICYRMITAKAYIIEQSPV
                     WKTLQKIKLNSDSVNPN"
     regulatory      832..837
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1orf146"
                     /gene_synonym="SCRE; SPO16"
                     /note="hexamer: ATTAAA"
     polyA_site      855
                     /gene="C1orf146"
                     /gene_synonym="SCRE; SPO16"
                     /note="major polyA site"
ORIGIN
        1 agaagcccag cgactgcaga accctgcccc aggcaccctg ggcgctctgc cctaccggcg
       61 gcgcctctca ctgctcacgg aacgttctgg aagtttggga aaccctgagc ggtctctgag
      121 gacctggtga gcagattgtt gcaccattag aagctaggtt gatccacaga cagatggctg
      181 aaagtggaaa agaaaaaata aaatggacaa ccaccattat tattagctca tctcttaaga
      241 gttatgaagt tgcaactgcc ctagaaaatc gaagccacaa agttcgatat tcagattcag
      301 tggaaaatgg atcaattata ttttctcttt ctggagttgc atttttatta atggatacta
      361 aggaatgtct tctgtcaact gaagaaatat ttctagccaa aattgagaaa tttattaaca
      421 ttcaccaaaa tagttttttg gttttgtctg ctgccctcca tgggcctgaa gaatggaaac
      481 tgatgttcag gattcagcag agattcctgg gttgtaactt acgaatactt ccagtacaca
      541 acacagtaaa tgctattaat cttatgtgca ctatagcaaa gactacctcc aaaccataca
      601 tagatagcat ttgctacaga atgataacag ctaaagctta catcattgag caaagtcctg
      661 tttggaaaac acttcagaag ataaaactga atagtgattc agttaaccca aattagagta
      721 ccaacttaat gtttttctcg aagaatgtga aaataattag acctgttaaa ttataatatt
      781 caaatatcta tttaaagaca tttatattaa tttgaaataa taacatatac aattaaaagt
      841 gattttattt tagga
//
LOCUS       NM_001012426            5994 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.
ACCESSION   NM_001012426
VERSION     NM_001012426.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5994)
  AUTHORS   Luo SW, Tang L, Zhou D, Bo H and Fan LQ.
  TITLE     FOXP4 promotes proliferation of human spermatogonial stem cells
  JOURNAL   Asian J Androl 25 (3), 322-330 (2023)
   PUBMED   36018067
  REMARK    GeneRIF: FOXP4 promotes proliferation of human spermatogonial stem
            cells.
REFERENCE   2  (bases 1 to 5994)
  AUTHORS   Del Viso F, Zhou D, Thiffault I, Lawson C, Cross L, Jenkins J, Rush
            E and Saunders C.
  TITLE     Recurrent FOXP4 nonsense variant in two unrelated patients:
            Association with neurodevelopmental disease and congenital
            diaphragmatic hernia
  JOURNAL   Am J Med Genet A 191 (1), 259-264 (2023)
   PUBMED   36301021
  REMARK    GeneRIF: Recurrent FOXP4 nonsense variant in two unrelated patients:
            Association with neurodevelopmental disease and congenital
            diaphragmatic hernia.
REFERENCE   3  (bases 1 to 5994)
  AUTHORS   Matsumoto T, Iizuka T, Nakamura M, Suzuki T, Yamamoto M, Ono M,
            Kagami K, Kasama H, Wakae K, Muramatsu M, Horike SI, Kyo S, Yamamoto
            Y, Mizumoto Y, Daikoku T and Fujiwara H.
  TITLE     FOXP4 inhibits squamous differentiation of atypical cells in
            cervical intraepithelial neoplasia via an ELF3-dependent pathway
  JOURNAL   Cancer Sci 113 (10), 3376-3389 (2022)
   PUBMED   35838233
  REMARK    GeneRIF: FOXP4 inhibits squamous differentiation of atypical cells
            in cervical intraepithelial neoplasia via an ELF3-dependent pathway.
REFERENCE   4  (bases 1 to 5994)
  AUTHORS   Chen Y, Li X, Li Y, Wu Y, Huang G, Wang X and Guo S.
  TITLE     Downregulation of microRNA-423-5p suppresses TGF-beta1-induced EMT
            by targeting FOXP4 in airway fibrosis
  JOURNAL   Mol Med Rep 26 (1) (2022)
   PUBMED   35642665
  REMARK    GeneRIF: Downregulation of microRNA4235p suppresses TGFbeta1induced
            EMT by targeting FOXP4 in airway fibrosis.
REFERENCE   5  (bases 1 to 5994)
  AUTHORS   Shi J, Wang J, Cheng H, Liu S, Hao X, Lan L, Wu G, Liu M and Zhao Y.
  TITLE     FOXP4 promotes laryngeal squamous cell carcinoma progression through
            directly targeting LEF-1
  JOURNAL   Mol Med Rep 24 (6) (2021)
   PUBMED   34590150
  REMARK    GeneRIF: FOXP4 promotes laryngeal squamous cell carcinoma
            progression through directly targeting LEF1.
REFERENCE   6  (bases 1 to 5994)
  AUTHORS   Denoeud F, Kapranov P, Ucla C, Frankish A, Castelo R, Drenkow J,
            Lagarde J, Alioto T, Manzano C, Chrast J, Dike S, Wyss C, Henrichsen
            CN, Holroyd N, Dickson MC, Taylor R, Hance Z, Foissac S, Myers RM,
            Rogers J, Hubbard T, Harrow J, Guigo R, Gingeras TR, Antonarakis SE
            and Reymond A.
  TITLE     Prominent use of distal 5' transcription start sites and discovery
            of a large number of additional exons in ENCODE regions
  JOURNAL   Genome Res 17 (6), 746-759 (2007)
   PUBMED   17567994
REFERENCE   7  (bases 1 to 5994)
  AUTHORS   Hannenhalli S, Putt ME, Gilmore JM, Wang J, Parmacek MS, Epstein JA,
            Morrisey EE, Margulies KB and Cappola TP.
  TITLE     Transcriptional genomics associates FOX transcription factors with
            human heart failure
  JOURNAL   Circulation 114 (12), 1269-1276 (2006)
   PUBMED   16952980
  REMARK    GeneRIF: these data implicate specific members of the FOX family of
            TFs (FOXC1, C2, P1, P4, and O1A) not previously suggested in heart
            failure pathogenesis.
REFERENCE   8  (bases 1 to 5994)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Human FOX gene family (Review)
  JOURNAL   Int J Oncol 25 (5), 1495-1500 (2004)
   PUBMED   15492844
  REMARK    Review article
REFERENCE   9  (bases 1 to 5994)
  AUTHORS   Teufel A, Wong EA, Mukhopadhyay M, Malik N and Westphal H.
  TITLE     FoxP4, a novel forkhead transcription factor
  JOURNAL   Biochim Biophys Acta 1627 (2-3), 147-152 (2003)
   PUBMED   12818433
REFERENCE   10  (bases 1 to 5994)
  AUTHORS   Lu MM, Li S, Yang H and Morrisey EE.
  TITLE     Foxp4: a novel member of the Foxp subfamily of winged-helix genes
            co-expressed with Foxp1 and Foxp2 in pulmonary and gut tissues
  JOURNAL   Mech Dev 119 Suppl 1, S197-S202 (2002)
   PUBMED   14516685
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.257709.1,
            SRR14038191.2967054.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
            variant(s)
            MANE Ensembl match          :: ENST00000307972.10/ ENSP00000309823.4
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139331.19, BC040962.1,
            AB080747.1 and AW450805.1.
            On Aug 14, 2020 this sequence version replaced NM_001012426.1.
            Summary: This gene belongs to subfamily P of the forkhead box (FOX)
            transcription factor family. Forkhead box transcription factors
            play important roles in the regulation of tissue- and cell
            type-specific gene transcription during both development and
            adulthood. Many members of the forkhead box gene family, including
            members of subfamily P, have roles in mammalian oncogenesis. This
            gene may play a role in the development of tumors of the kidney and
            larynx. Alternative splicing of this gene produces multiple
            transcript variants, some encoding different isoforms. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5994
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..5994
                     /gene="FOXP4"
                     /gene_synonym="hFKHLA"
                     /note="forkhead box P4"
                     /db_xref="GeneID:116113"
                     /db_xref="HGNC:HGNC:20842"
                     /db_xref="MIM:608924"
     misc_feature    495..497
                     /gene="FOXP4"
                     /gene_synonym="hFKHLA"
                     /note="upstream in-frame stop codon"
     CDS             504..2546
                     /gene="FOXP4"
                     /gene_synonym="hFKHLA"
                     /note="isoform 1 is encoded by transcript variant 1;
                     winged-helix repressor FOXP4; fork head-related protein
                     like A; forkhead box protein P4"
                     /codon_start=1
                     /product="forkhead box protein P4 isoform 1"
                     /protein_id="NP_001012426.1"
                     /db_xref="CCDS:CCDS34447.1"
                     /db_xref="GeneID:116113"
                     /db_xref="HGNC:HGNC:20842"
                     /db_xref="MIM:608924"
                     /translation="MMVESASETIRSAPSGQNGVGSLSGQADGSSGGATGTTASGTGRE
                     VTTGADSNGEMSPAELLHFQQQQALQVARQFLLQQASGLSSPGNNDSKQSASAVQVPVS
                     VAMMSPQMLTPQQMQQILSPPQLQALLQQQQALMLQQLQEYYKKQQEQLHLQLLTQQQA
                     GKPQPKEALGNKQLAFQQQLLQMQQLQQQHLLNLQRQGLVSLQPNQASGPLQTLPQAAV
                     CPTDLPQLWKGEGAPGQPAEDSVKQEGLDLTGTAATATSFAAPPKVSPPLSHHTLPNGQ
                     PTVLTSRRDSSSHEETPGSHPLYGHGECKWPGCETLCEDLGQFIKHLNTEHALDDRSTA
                     QCRVQMQVVQQLEIQLAKESERLQAMMAHLHMRPSEPKPFSQPLNPVPGSSSFSKVTVS
                     AADSFPDGLVHPPTSAAAPVTPLRPPGLGSASLHGGGPARRRSSDKFCSPISSELAQNH
                     EFYKNADVRPPFTYASLIRQAILETPDRQLTLNEIYNWFTRMFAYFRRNTATWKNAVRH
                     NLSLHKCFVRVENVKGAVWTVDEREYQKRRPPKMTGSPTLVKNMISGLSYGALNASYQA
                     ALAESSFPLLNSPGMLNPGSASSLLPLSHDDVGAPVEPLPSNGSSSPPRLSPPQYSHQV
                     QVKEEPAEAEEDRQPGPPLGAPNPSASGPPEDRDLEEELPGEELS"
     misc_feature    504..671
                     /gene="FOXP4"
                     /gene_synonym="hFKHLA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IVH2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    657..659
                     /gene="FOXP4"
                     /gene_synonym="hFKHLA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IVH2.1); phosphorylation site"
     misc_feature    759..761
                     /gene="FOXP4"
                     /gene_synonym="hFKHLA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IVH2.1); phosphorylation site"
     misc_feature    1287..1421
                     /gene="FOXP4"
                     /gene_synonym="hFKHLA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IVH2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1548..1613
                     /gene="FOXP4"
                     /gene_synonym="hFKHLA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IVH2.1);
                     Region: Leucine-zipper"
     misc_feature    1722..1838
                     /gene="FOXP4"
                     /gene_synonym="hFKHLA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IVH2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2163..2165
                     /gene="FOXP4"
                     /gene_synonym="hFKHLA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IVH2.1); phosphorylation site"
     misc_feature    2307..2543
                     /gene="FOXP4"
                     /gene_synonym="hFKHLA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IVH2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     polyA_site      3573
                     /gene="FOXP4"
                     /gene_synonym="hFKHLA"
                     /note="major polyA site"
     regulatory      4213..4218
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOXP4"
                     /gene_synonym="hFKHLA"
                     /note="hexamer: ATTAAA"
     polyA_site      4236
                     /gene="FOXP4"
                     /gene_synonym="hFKHLA"
                     /note="major polyA site"
     regulatory      5974..5979
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOXP4"
                     /gene_synonym="hFKHLA"
                     /note="hexamer: AATAAA"
     polyA_site      5994
                     /gene="FOXP4"
                     /gene_synonym="hFKHLA"
ORIGIN
        1 actcgcagcc caggctcagt cgcagcccct cggagtccgg agcccgccgt ccctgcggac
       61 cggacagtgc ggccggcggc cggcggccgg gacggagccc ccagcccgcg aggagggcgc
      121 ggcgcaggcg gcggcggcgc ggcggggagg agcccgggcc ggaaccaggg ctgggccggg
      181 ggcggggacg ccggggtccg ggagcccggg agccggagcg agctgacgag cgtcgcggaa
      241 ggaccgggaa ggaagagcgg agccggagcg agccaagcag cccacaaagt gccatgcccc
      301 ggcggggttg aggcgcgcgg cggtcggccc ggcgcgctgg gaggacgccc gggagctgcg
      361 cgacgcgggg cggcgcggaa gggcagcccc ggcgggcggc ggcgggcccg ggctgcgacc
      421 ggagcgagcc ccatgccccg cgcgggctga cgggccggag cccgcacgga gcggccgggc
      481 gggacaggta ccgctagagc gacatgatgg tggaatctgc ctcggagaca atcaggtcgg
      541 ctccatctgg tcagaatggc gtgggcagcc tctctgggca agccgatggc agcagcggcg
      601 gggccacagg gacaactgca agtggcacgg gcagggaagt gaccacgggt gcagacagca
      661 atggtgagat gagtcccgca gagctgctgc acttccagca gcaacaggct ctccaagtgg
      721 cccggcagtt cctgctgcag caggcctcag gcctgagctc cccagggaac aatgacagca
      781 aacagtctgc ctctgctgtg caggtgcctg tgtcggtggc catgatgtcg ccgcagatgc
      841 ttaccccgca acagatgcag cagatcctgt cgcccccgca gctgcaggcc ttgctccagc
      901 agcagcaagc cctcatgctc cagcagctac aggagtacta caagaagcag caggagcagc
      961 tccacctgca gctcctcacc cagcagcagg ctgggaaacc gcagcccaaa gaggcactgg
     1021 ggaacaagca gctggccttc cagcagcagc tcctgcaaat gcaacagttg cagcagcagc
     1081 acctgctcaa cctgcagagg caggggctgg tcagcctgca gcccaaccaa gcctcggggc
     1141 ccctccagac ccttccgcaa gcagctgttt gcccaacaga cctgccccag ctgtggaagg
     1201 gcgagggtgc ccccgggcag cctgccgagg acagcgtcaa gcaggagggg ctggacctca
     1261 ctggcacggc cgccaccgct acctcgtttg ccgctccccc caaggtctca ccccccctct
     1321 cccaccatac cctgcccaac ggacagccta ctgtgctcac atctcggaga gacagctctt
     1381 cccacgagga gacccccggc tcccaccccc tgtacggaca cggagagtgc aagtggccag
     1441 gctgtgagac cctgtgtgaa gacctgggcc agtttatcaa acacctcaac acagagcacg
     1501 ccctggatga ccggagtaca gcccagtgcc gggtacagat gcaggtggtg cagcagctgg
     1561 agatccagct cgccaaggag agcgagcggc tgcaggccat gatggcccac ctgcacatgc
     1621 ggccctcgga gcccaagccc ttcagccagc cactgaaccc ggtccccggc tcctcctcat
     1681 tctccaaggt gaccgtctct gcagcagact cattcccaga tggtctcgtg caccccccga
     1741 cctcggccgc agcccctgtc acccctctac ggccccctgg cctgggctct gcctccctgc
     1801 atggtggggg cccagcccgt cggagaagca gtgacaagtt ctgctccccc atctcctcag
     1861 agctggccca gaatcatgag ttctacaaga acgccgacgt ccggcccccc ttcacctacg
     1921 cctccctcat ccgccaggcc atcctggaaa cccctgacag gcagctgacc ctgaatgaga
     1981 tctataactg gttcaccagg atgttcgcct atttccgcag aaacactgcc acctggaaga
     2041 acgccgtgcg ccacaacctc agcctgcaca agtgcttcgt ccgcgtggag aacgtcaagg
     2101 gtgccgtgtg gactgtggac gagcgggagt atcagaagcg gagaccgcca aagatgacag
     2161 ggagccccac cctggtgaag aacatgatct ctggcctcag ctatggagca cttaatgcca
     2221 gctaccaggc cgccctggcc gagagcagct tccccctcct caacagccct ggcatgctga
     2281 accctggctc cgccagcagc ctgctgcccc tcagccacga tgacgtgggt gcccccgtgg
     2341 agccgctgcc cagcaacggc agcagcagcc ctcctcgcct ctccccgccc cagtacagcc
     2401 accaggtgca ggtgaaggag gagccagcag aggcagagga agacaggcag cccgggcctc
     2461 ccctgggcgc ccctaacccc agcgcctcgg ggcctccgga agacagggac ctggaggagg
     2521 agctgccggg agaagaactg tcctaagggc ctgtagtgac cggcagggct ggggtgagac
     2581 ccctcccttc cagaatccag gccccatctc ccccaactcc acagcccctc ccgagcctca
     2641 aggcaagtcc aggactcaga ccggggaggc ccgggccagc agctcccagt gtgacctgac
     2701 aaaaacacgt aggggcaggg acggtcccca cccccaggga cacaacccct ggtcttggac
     2761 cagtagagga cacggagggt tcagacccct cctcagaccc tccccacatc tgaaactgcc
     2821 tccccccaac caccagcagc agcagggccc tcctccccca ccagctctcc ccacagggcc
     2881 cctcagcatc atggagaccc gcaggcgggg cttagccacc cctcaaaccc agggccccct
     2941 ggcacctggc tctggccgtg ttttctggcc agaggccccc actttcctaa ctcgtgctcc
     3001 cttccgcctt cttttccgta ctgtgaagaa agaactctcc accccagctc ccaccctgcc
     3061 ctggcctggg tggaggaact gtgcctccat ccccagaaga aacagccccc tctgctgctg
     3121 gggtgggact gtctgtgtgc cctgtggggg tccgtgtgag caggcccacc tggctccaga
     3181 cccgccccca acctgagaca gaaccaggct gagccaggcc tccaccccca cccccgtttg
     3241 ctgggggctc ctccagccgc ccccatggga agaggcctgg taccgcctca cccacagagg
     3301 tctgtgccag gtgcgcttct gcaggtggag ccaagctctc cctgaggcca gaggcggggc
     3361 ctgggccggg agcccagggg aaggccaggc tggaccccgg ctccacaccc acatccagcc
     3421 tgcaggcctc tctgcagtcc tctcaccctc cctcagctcc ccttcctctg cagtcaccct
     3481 cagctcccct tccttgcccg cctctccccc cgccgcccca ccagttaaac ggatgaccaa
     3541 agacctttct tatgccggaa gcaaaaacca aaactttttg ttggcttttt cctttgtcgc
     3601 ctccccagca cctgccctcc cagtctccca ccccggcccc aggctggaag ccctccctcc
     3661 acttaagtta ttgttttaaa ccaaagttta cagtgtctgt tggtggccaa gaccttctct
     3721 ctccacccct cctccatcca ccctgaggac cctggggctc agtggaggca gggccctgcc
     3781 cccctccctt ccgctcctgc ccagcctggg ggaaggagaa aggaggggag aaagcgggct
     3841 ctcaccccct caggagtggg cacgggagcc cttctccctg accctgggct gcttcctggg
     3901 ggctctccag acccctctct aggaccaagt cacccgtcgt gctgggagtg tggattctag
     3961 caaaagagct ggaaaaaagt cagactctcc acagaccccc tatgggggac ccccaactca
     4021 aggccaagga ctgggcgtat cggatgctca taacacccct ggcctggccc ctttactgag
     4081 aagactcctt ggatatttcc caagaacccc ccacatacac ccctcacaag ccacccctcc
     4141 tgagaggcag ggggccctcc gccccctccc catgtattcc ccacctgtgt tccgtttgac
     4201 cagcacagaa atattaaacg tcctctattc accgggccct gtgtgtgtca ccgaggtgcg
     4261 ggaggggagg agcattaaag ctgaaagatc gctctgctcg gggagcctgg gcagagcagc
     4321 agcaacgtga gggtcgctgt ggtggtggtt tctgtgagtg gatggaatga gcagccctgc
     4381 aggggcgctg ggcatgtgcc ctcactgtgg acagggccca cccacctccg gttcccctgt
     4441 gcctcctgtc ccttccacgc ttaaacaggg ttctctgtca ttttcctgtt ttcttccaga
     4501 gtcccaatcc tttgccctag ttctttcact agtttgaaat ccaagttctt gccagagtgt
     4561 tggagcaagg cagctgattt gctgcaggga tggagaggac caccgccgca gggttctttt
     4621 acctgtgcca ccagctctgg agacatccac acccattccc aggtgtcctt ccaggcccat
     4681 tgtccacgtc ttcaaggggg ctgcctggat aggcgtgtgt gtgtgtagtg cccaggtgtg
     4741 gtggtggcat cctgaagcag taggaccatt agtgtgcgtg cacacccacg tggcacactg
     4801 tgtggtgacc atggtcatca tagtgggctc acggcggaaa cgggatcatt caacctatac
     4861 aaaggggacc ctggataggc tgcaaggaaa gaggccaagg gccaagctgc taagccaaag
     4921 atggcccctg acacctcccc cagccccagc acaccagcct gcacctctta tcccgtgtta
     4981 agtcctggtt ccccacctgc tgcccctcct caacacagag cccctcccgc cgcctcagac
     5041 ccctgtgcac atccccaggg cctcagccgt ctcattggtc tttatttttt atttttttta
     5101 agatggagtt tcgctcttat tgcccagact ggagtgcagt gatgctatct cggctcactg
     5161 caacctttgc ctcccaggtt caagtgattc tcctgcctca gcctcccaag tagctgggat
     5221 tacaggcgtg caccaccacg ccgggctaaa tttttttgta tttttagtag agacggggtt
     5281 tctctatgtt ggtcaggctg atctcgaact cccgacctca ggtgatccgc cagcctcagc
     5341 ctcccaaagt gctgggatta caggcgtgag ccactgcacc cggctctcac tggtcttacg
     5401 ccaccttctg gacactccct ccttgagggc agaaaggagt cccaggcctg tccctaggga
     5461 caaggcccag ggaagagtgt atttggggag caggggaggg gagggtgttg agaaagctga
     5521 actggagtca atcacccttc ccacaaatca ccaaactgct ggaactctcc agccaaatgc
     5581 tgggagaagg acctggaggg tgagtctttg ctgacctctc tctactctca ggcatgtctt
     5641 ttgtcctttt cgtccatcta tttctgtctg tcgctcactc gccccgcttt ctctgtctca
     5701 ccttcatcca ctctgcaggc ctgctccacc acagccctaa tcctctggac gcttgtgtag
     5761 ggcctggggt gaattccctg tcccccatgg tacctcgaga ggggctgggg agctcagctt
     5821 ggtctcagag tctccccacc agatactgtt taaaaaagta gcactgatgt gttttgtaat
     5881 ctgcccctcc cagccctccg tggaggctgc cagggccttg tacggtaaac ctagctgcat
     5941 gtaatctgtg gacaatggca ttctctacaa tgcaataaaa acaattaccc atga
//
LOCUS       NM_001012446            3557 bp    mRNA    linear   PRI 23-FEB-2023
DEFINITION  Homo sapiens family with sequence similarity 221 member B (FAM221B),
            transcript variant 1, mRNA.
ACCESSION   NM_001012446
VERSION     NM_001012446.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3557)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3557)
  AUTHORS   Ridanpaa M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B,
            vanVenrooij W, Pruijn G, Salmela R, Rockas S, Makitie O, Kaitila I
            and de la Chapelle A.
  TITLE     Mutations in the RNA component of RNase MRP cause a pleiotropic
            human disease, cartilage-hair hypoplasia
  JOURNAL   Cell 104 (2), 195-203 (2001)
   PUBMED   11207361
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC146808.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000423537.7/ ENSP00000415299.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC146808.1, BX648702.1 and AL133410.32.
            On May 17, 2019 this sequence version replaced NM_001012446.3.
            Transcript Variant: This variant (1) is protein-coding.
FEATURES             Location/Qualifiers
     source          1..3557
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..3557
                     /gene="FAM221B"
                     /gene_synonym="C9orf128"
                     /note="family with sequence similarity 221 member B"
                     /db_xref="GeneID:392307"
                     /db_xref="HGNC:HGNC:30762"
     misc_feature    190..192
                     /gene="FAM221B"
                     /gene_synonym="C9orf128"
                     /note="upstream in-frame stop codon"
     CDS             271..1479
                     /gene="FAM221B"
                     /gene_synonym="C9orf128"
                     /note="uncharacterized protein C9orf128"
                     /codon_start=1
                     /product="protein FAM221B"
                     /protein_id="NP_001012448.2"
                     /db_xref="CCDS:CCDS43799.2"
                     /db_xref="GeneID:392307"
                     /db_xref="HGNC:HGNC:30762"
                     /translation="MEAHEIIEEPHITMDAEKHPPSKDPSAEDLQENHISESFLKPSTS
                     ETPLEPHTSESPLVPSPSQIPLEAHSPETHQEPSISETPSETPTYEASLDSPISVVPEK
                     HLTLPPQSRDYVCLSSSDTLKEDLSSESSSNEVPWTRRSTHLSESESLPEHCLSGPSSQ
                     VQVDTTEKQEEEAGEVEKGVDASDSTAHTAQPGHQLGNTARPVFPARQTELVEVAKAMH
                     REEFGAQVNNLFQWEKDAALNAIQTGLYIGWRCPHYLWDCFRIGDESRCFCGHLLREHR
                     IISDISVPCKVSQCRCFMFCFIPSRPEEVGEFWLKRRATFDPKAWRAQCRCKHSHEEHA
                     ATGPHPCRHHGCCCGCFESNFLCAACDRRWEEHETFFDTQKTRQRGGRPRGTDTVSNWH
                     RPL"
     misc_feature    271..885
                     /gene="FAM221B"
                     /gene_synonym="C9orf128"
                     /note="propagated from UniProtKB/Swiss-Prot (A6H8Z2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1402..1476
                     /gene="FAM221B"
                     /gene_synonym="C9orf128"
                     /note="propagated from UniProtKB/Swiss-Prot (A6H8Z2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1497..1502
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM221B"
                     /gene_synonym="C9orf128"
                     /note="hexamer: AATAAA"
     polyA_site      1518
                     /gene="FAM221B"
                     /gene_synonym="C9orf128"
                     /note="major polyA site"
ORIGIN
        1 agtcaagacc ctccctcatt ggccctagac cccttgtccc tacccacttc cccaggtcat
       61 gccagagctc ctttgcgaag ttctgcagat atccaagtcc ccttcccaga tagcagactt
      121 tcaggcaagg catttcaaca ctcagcacct gcagctgagg cacatccaca accaagagcc
      181 tttcctccct gaggatcaac acctccccct gccatcctaa gtcaaggtct tgacctaagg
      241 acttgtaaca accaagccaa agcccagagg atggaagcac atgagatcat agaagagcct
      301 catatcacca tggatgcaga gaagcacccc ccttcaaagg acccctctgc tgaggactta
      361 caggagaacc atatctctga aagcttcttg aagccttcca cctctgagac cccgttagag
      421 ccccatacct ctgaatcccc tttggtgcca tccccttccc agatcccctt agaggcccat
      481 tcccctgaaa cccatcagga gccttccatc tctgagactc cttcagagac ccctacctat
      541 gaggcttcat tggatagtcc catctcagtg gtgccagaga aacaccttac tcttcctccc
      601 caatcacgag actatgtctg tctgtcttct tctgatactc tgaaggaaga cctctcctct
      661 gagtcttctt ccaatgaggt cccatggaca aggaggtcta cccatctctc tgaatctgag
      721 agccttccag aacactgtct ttcaggccct tcatcccagg tccaagtgga cacaaccgaa
      781 aagcaggagg aagaagcagg agaggttgaa aagggagtag atgccagtga cagcactgct
      841 cacacagccc aacctggaca ccaactaggt aacacagccc gcccagtgtt ccctgctagg
      901 cagacagagc tggtggaagt ggctaaggca atgcatagag aggagtttgg tgctcaagtg
      961 aacaatcttt tccagtggga gaaggatgca gccctgaatg ccatccagac aggtctctac
     1021 attggctggc gctgccccca ttacctatgg gactgtttcc ggattgggga tgagtccaga
     1081 tgcttttgtg gacacttgtt gagagagcac cggatcatct cagacatatc ggtgccctgc
     1141 aaggtaagcc agtgccgctg cttcatgttc tgctttatcc catcacgccc agaggaggtg
     1201 ggtgagttct ggctcaagag acgggccacc tttgacccca aggcctggag ggcccaatgt
     1261 cgctgcaaac acagccacga agaacatgca gccactgggc cccatccctg caggcatcat
     1321 ggctgttgct gcggctgttt tgagtctaat ttcctctgtg cggcctgtga ccggcgctgg
     1381 gaggaacacg agactttctt tgacacccag aagacccggc aacgaggagg aaggcctcgc
     1441 gggacagaca ctgtcagcaa ctggcacagg cctttgtgag tctggcccag atcagcaata
     1501 aaagaggagt cattggaacc tgacttggct ctatatgggg caggtagatc ccagcccagg
     1561 gagagactgc ctaataactt agagttgaca cctattagac acaggagaaa gcctggatct
     1621 ggccatctgc ctccatcaca ctcacattca agctgcctgt tgaaggaaag tggcttcaag
     1681 gaagtcaaga agggaggaag tttcaagaag gatagagtgg gaagtgatgt tagatgcagt
     1741 tggggcacca ataagataaa gactgaaaag tgtccattgg gttttgcaat tagaagatct
     1801 ttgggaacat cggagagtgc agtttcacac tggtgcagtg gaggcaggag tcaaacagca
     1861 gtgagtttca aggagtctct taaagaagct tggatgaaaa gtacaaaagt aaagtcagac
     1921 aatatccaga gggagttgtg gagtcaagga agtacttttg taggaaggaa aaggggaaga
     1981 ggccagtaga ctaaaggacc ttgaaggacc cagaagagag agaagagatg cctggtgaga
     2041 caagatccca gagatggagg aaagggatga ggtcaaagca gaggtgaagg gattttctct
     2101 ggacaggaga aacaccactt cctatgacca agacgaagga agaggatgga gccttcctag
     2161 agtttcaggg aacaagaacc tgtggaagtt cccctctgat ggcttctata tgccctgtga
     2221 agtaggagat aaggccaatg gctggggtcc aggggaagag ggataagagt agggagcagg
     2281 agacaagaag agaaagggga aggtttggga aggctaatgt agggaactgg agaaaaacct
     2341 catcagtggg tagttcagga ttcgggcaca gttggaagtg agaacctagt tagagaagca
     2401 gagaatccaa atatttaatg ggttgatgat gtgagggtgt cagggaggaa gatcaggaaa
     2461 actaagcaaa agaaggcatg aggatgtgaa gggagcatac agcaccaata gggaaagaaa
     2521 gtgatgccag gaggcaaatg acagattgaa aaagggagca gtcaaaggaa gagaagtctc
     2581 taatgaggta cagtagcaga cgtaggggca ggggttggag tacaagagac agtgttcaga
     2641 ggctgcagag cataacatct ttcagatgag ggcaagtgaa ggtgataagt gcttgaagta
     2701 gagaaaactg tgggccaagg atcaaaatca gtgaatgtgg gaagtcacaa gggagtccat
     2761 aggttcttat gggagtagga gattccagca ctaatgggct ctgtgaaccc aggcaagtca
     2821 ctgtccctct ttaggctgag tttctggacc tgtaaaacag gaataacctc tgtgttgcct
     2881 actttctatg agaaccaaag aaataactaa tttcaaagtg ctttgtatcc acctatcctc
     2941 cagactggct tccttcctct tcctagatcc cagatccact tatctctcgc ccttctccag
     3001 ggcaactcta gggtctccca gtgtcccaga ggcaccacag agaactgcag cctctggggc
     3061 ccagagaaga ggccattcta catttcctca caattagggg ggccatctgt tcctccaagg
     3121 gaaggaatgc aatctggact gctaggatcc ctggggaaaa tcacagaatc aaatgtctgc
     3181 cctttagagg agaaaggatt ttctaacaat aatatagcta tacaaaagag attgttatat
     3241 ctctagaagc aaagttcccc aacagtggtt atatgcccca tgataaccat tcacctaaaa
     3301 ctaattcaac taatagtcaa caatagagtt aggattacta tgataaactc attgaaggaa
     3361 ataataagca gccaatacaa actatattta cgtagactgt aaaaatatga aaaattgatt
     3421 acacatgggt tagtatcata tgcaatacat attacatatt atgaaaaaaa gacaggaaac
     3481 accaaatgtt attcattcaa caattactga ccacctatat gtatcaggtc atgtgtttaa
     3541 aaaaaaaaaa aagaaaa
//
LOCUS       NM_001012455            3150 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23),
            mRNA.
ACCESSION   NM_001012455
VERSION     NM_001012455.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3150)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3150)
  AUTHORS   Majewska M, Lipka A, Paukszto L, Jastrzebski JP, Gowkielewicz M,
            Jozwik M and Majewski MK.
  TITLE     Preliminary RNA-Seq Analysis of Long Non-Coding RNAs Expressed in
            Human Term Placenta
  JOURNAL   Int J Mol Sci 19 (7), 1894 (2018)
   PUBMED   29954144
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3150)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S, Das
            PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A, Ginno
            PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of human
            transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   4  (bases 1 to 3150)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AL833347.1, SRR18074969.2532753.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000289788.5/ ENSP00000289788.4
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX283350.1, AL833347.1 and Z98745.1.
            On Jun 2, 2019 this sequence version replaced NM_001012455.1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3150
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     gene            1..3150
                     /gene="ZSCAN23"
                     /gene_synonym="dJ29K1.3; dJ29K1.3.1; ZNF390; ZNF453"
                     /note="zinc finger and SCAN domain containing 23"
                     /db_xref="GeneID:222696"
                     /db_xref="HGNC:HGNC:21193"
     misc_feature    153..155
                     /gene="ZSCAN23"
                     /gene_synonym="dJ29K1.3; dJ29K1.3.1; ZNF390; ZNF453"
                     /note="upstream in-frame stop codon"
     CDS             171..1340
                     /gene="ZSCAN23"
                     /gene_synonym="dJ29K1.3; dJ29K1.3.1; ZNF390; ZNF453"
                     /note="zinc finger protein 453; zinc finger protein 390"
                     /codon_start=1
                     /product="zinc finger and SCAN domain-containing protein
                     23"
                     /protein_id="NP_001012458.1"
                     /db_xref="CCDS:CCDS47393.1"
                     /db_xref="GeneID:222696"
                     /db_xref="HGNC:HGNC:21193"
                     /translation="MAITLTLQTAEMQEGLLAVKVKEEEEEHSCGPESGLSRNNPHTRE
                     IFRRRFRQFCYQESPGPREALQRLQELCHQWLRPEMHTKEQILELLVLEQFLTILPEEL
                     QAWVRQHRPVSGEEAVTVLEDLERELDDPGEQVLSHAHEQEEFVKEKATPGAAQESSND
                     QFQTLEEQLGYNLREVCPVQEIDGKAGTWNVELAPKREISQEVKSLIQVLGKQNGNITQ
                     IPEYGDTCDREGRLEKQRVSSSVERPYICSECGKSFTQNSILIEHQRTHTGEKPYECDE
                     CGRAFSQRSGLFQHQRLHTGEKRYQCSVCGKAFSQNAGLFHHLRIHTGEKPYQCNQCNK
                     SFSRRSVLIKHQRIHTGERPYECEECGKNFIYHCNLIQHRKVHPVAESS"
     regulatory      2234..2239
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZSCAN23"
                     /gene_synonym="dJ29K1.3; dJ29K1.3.1; ZNF390; ZNF453"
                     /note="hexamer: AATAAA"
     polyA_site      2257
                     /gene="ZSCAN23"
                     /gene_synonym="dJ29K1.3; dJ29K1.3.1; ZNF390; ZNF453"
                     /note="major polyA site"
ORIGIN
        1 ctttgtagtt tatcattctt tgggctgcgg ttgtcaagga ttcagagcag atgtgatctg
       61 cgctaggtgg catctcctct cacggatgcc tcgatctcgg ggtttccaga agaaaagatc
      121 aagggagaat tatcaagaat agattatttt tctgaatagt taaacctttg atggccataa
      181 ccttgaccct tcagactgca gagatgcagg aaggacttct ggcagtgaag gtaaaggagg
      241 aagaggagga acattcctgt gggccagaat caggcctgtc aagaaataac cctcatacca
      301 gagagatctt tcgtagacgc ttcaggcagt tctgctatca ggagtcccct gggccccggg
      361 aggctcttca aagactccag gagctctgcc atcagtggct gagaccagag atgcacacca
      421 aggagcagat cctagagctg ctggtgctgg agcagttcct gactatcctg cctgaggagc
      481 tccaggcctg ggtcagacag caccgtcctg tgagtggaga ggaggcagtg actgtgctgg
      541 aggatttgga gagagagctg gatgacccag gagagcaggt cctgagccat gctcatgaac
      601 aggaagagtt tgtaaaggag aaggcaactc caggagcagc tcaggagtca tcaaatgacc
      661 aattccaaac cttggaagag caacttgggt ataatttgcg agaggtgtgc ccagttcaag
      721 agattgatgg caaggctggg acttggaatg tggagttagc cccaaagagg gagatttctc
      781 aggaagtgaa atctcttata caagttcttg gaaaacagaa tggtaatatt actcagattc
      841 ctgagtatgg agatacctgt gaccgtgagg gcagattgga aaagcaaagg gtgagctctt
      901 cagtggagag accctatatc tgtagtgaat gtggaaaaag cttcacccag aattccatcc
      961 ttatcgagca ccagagaaca cacacaggtg agaagcctta tgaatgtgat gagtgtgggc
     1021 gggccttcag ccagaggtca ggcctattcc agcaccagag actccacact ggggagaagc
     1081 gctaccagtg cagtgtttgt ggcaaagcct tcagccagaa tgccgggctt ttccatcacc
     1141 tcagaattca cactggggag aagccttacc agtgcaatca gtgcaataag agttttagtc
     1201 gacgttcagt cctcattaag catcagagaa ttcacactgg agagagacct tatgaatgtg
     1261 aagaatgtgg caagaacttc atttaccatt gcaacctaat ccagcatcgg aaagtccacc
     1321 cagtggctga atcaagctag ctccttggaa caggtagggg ataatatttc ttactttgtc
     1381 cctgctgtgt cctctagcat agaaaagttc aagggaaagc cagtaaaaat tcccttactt
     1441 ttatgcagag agaagcataa tatcttaaat acatctgccg agttctctga tcagtgacat
     1501 ccacagcttt gcaatactga atgttgcctc ttgtgttgat ttcatcatgt atgctgtaga
     1561 cctagtttca cacacatctg tgcaagaagt tttctatttc aggaaaactt cttcatccta
     1621 gtttttaaaa acttttttta aaagtttaaa atagttatat gtaggctgag tacaaaataa
     1681 tctcaaatgc agttcaccga gtatttaaaa attaacttaa aaataattgt aataaaattc
     1741 ataatatagg tttcctgact tctttccatt cacataaaat atgataattt gttttgtaac
     1801 ctacaaaaag gggcagatga atcctcctat ataaatgtag atttatagta agttagattt
     1861 ctatagattt tttagttagc ctttaggaac caaggaactg aagcagccat atgttattag
     1921 cagctcagtg gctcctcata acaaatattg ctcatgattt taaatttacg cagaggctaa
     1981 gaaacttagc taaaaatctg atatctcacc tcagatttct tattggaaaa tacaggcctc
     2041 tttgtatttt tcccgtaaca tataatgagc atttttttgt ttttgccttt ttctccttta
     2101 ttcaatattt tgtatggaaa atttgaaaca tattcaagat tgaagagaag agtatgatca
     2161 ctctttcatg ttgattgttt ttataacctc cacattttct cagcatttac tattgattac
     2221 caccaagatc ataaataaaa aaatttattt cccttaacat tgacttagta actctttaca
     2281 aagctttaca caaggtccag gagacaaaga aatggaaaac ctatggtgaa aacaatctgg
     2341 tttggaatac acccaaatac ccaatacata gcaagtaact ttagaataac agaatcactc
     2401 taagggacct tagagatcac ttctgcttgc tcttatttga cagataagag aaaaggaagt
     2461 tctgggaagt aactaagatc atacagccag ttaaaagcag agctggaact agaaccctgt
     2521 ctcctacttc ctagtgtaac attctattaa gccactggag gcattatatc accaaataaa
     2581 aattacaagt atatggaatt tataggattt ataagtcact gaagttgctc aacaaaccca
     2641 cccatttata tgtttcaata aagcacaact cctctattta atttacagtg gagtccagga
     2701 aagactcttc tcatttattc ctcattgaaa gcattttatt tttgtaatta ttatttttag
     2761 cttttaaaat ttaatttact cagtaggact tttttaaaaa gataattcat tcttcacctg
     2821 gttcaaaaat caaaataata caaaaaggtc tactttccct ttataagtag ccattgtact
     2881 agtttcttat gtatctttca gtgtttcttt atgtaaatat aggcaaatat gaatgtataa
     2941 tcttatttct tccattactc aggaagatgg catattattt atactcttct aataccttgc
     3001 tgttttcatg aaagaatata atctttagag atgtccacat cataacagaa cttcttcatt
     3061 ctttttataa gtgaatagaa ttttatttgt tcatactcca tagtttaaca aactcctata
     3121 gatgaaaaat ctcactattt taaaatgtta
//
LOCUS       NM_001012502            3704 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens cilia and flagella associated protein 157 (CFAP157),
            transcript variant 1, mRNA.
ACCESSION   NM_001012502
VERSION     NM_001012502.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3704)
  AUTHORS   Hoh RA, Stowe TR, Turk E and Stearns T.
  TITLE     Transcriptional program of ciliated epithelial cells reveals new
            cilium and centrosome components and links to human disease
  JOURNAL   PLoS One 7 (12), e52166 (2012)
   PUBMED   23300604
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373295.7/ ENSP00000362392.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL162426.20.
            On Nov 22, 2018 this sequence version replaced NM_001012502.2.
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3704
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..3704
                     /gene="CFAP157"
                     /gene_synonym="C9orf117"
                     /note="cilia and flagella associated protein 157"
                     /db_xref="GeneID:286207"
                     /db_xref="HGNC:HGNC:27843"
     CDS             45..1607
                     /gene="CFAP157"
                     /gene_synonym="C9orf117"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 157"
                     /protein_id="NP_001012520.2"
                     /db_xref="CCDS:CCDS43878.1"
                     /db_xref="GeneID:286207"
                     /db_xref="HGNC:HGNC:27843"
                     /translation="MAPKKSVSKAGKELEVKKKGGKKEPVVAVEPPLAKEMKEFYHIQI
                     RDLEDRLARYQRKWDELAVQEKMFRQEFEQLANNKKEIVAFLKRTLNQQVDEITDLNEQ
                     LQNLQLAKEMEKDAFEAQLAQVRHEFQETKDQLTTENIILGGKLAALEEFRLQKEEVTD
                     KFTLLEEQVRKQENEFRDYAYNLEKKSVLDKDRLRKEIIQRVNLVANEFHKVTTNRMWE
                     TTKRAIKENNGITLQMARVSQQGMKLLQENEQLKGRQNNLCKQLELLENTQKVMARHKR
                     GHQKIILMLTKKCQEQQQDTKEAEELRLLLSQLEQRSLQLQVDNQALKSQRDQLSLQLE
                     QQQVDLQRLQQELANEQKVRASLEAALVQATSFLQNILQMHRDEEDSDVDVTFQPWHKE
                     MLQQLLVMLSSTVATRPQKAACPHQESQSHGPPKESRPSIQLPRTGSLLPQLSDITPYQ
                     PGDLGLVPRQVHIPPNPQDLRLLSYITRVGTFRAHSSPEMRAPGSLKRLEKFSLPEVPL
                     RPK"
     misc_feature    45..110
                     /gene="CFAP157"
                     /gene_synonym="C9orf117"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JU67.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1290..1403
                     /gene="CFAP157"
                     /gene_synonym="C9orf117"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JU67.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1707..1712
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP157"
                     /gene_synonym="C9orf117"
                     /note="hexamer: TATAAA"
     polyA_site      1725
                     /gene="CFAP157"
                     /gene_synonym="C9orf117"
     regulatory      3685..3690
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP157"
                     /gene_synonym="C9orf117"
                     /note="hexamer: AATAAA"
     polyA_site      3704
                     /gene="CFAP157"
                     /gene_synonym="C9orf117"
                     /note="major polyA site"
ORIGIN
        1 acctggcctc ttcctggggc ctggagccct ggttgccatc agccatggct cccaaaaaga
       61 gtgtgagcaa ggcaggcaag gagcttgaag tcaagaagaa agggggcaag aaggagccgg
      121 tggtggccgt ggagccgcct ctggccaagg agatgaagga gttctaccac atccagatcc
      181 gagacctgga ggaccggcta gcccggtacc agcggaagtg ggatgagctg gctgtgcagg
      241 agaagatgtt ccgccaggag tttgagcagc tggccaataa caagaaggag attgtggcct
      301 tcctcaagcg cacgctcaac cagcaggtgg atgagatcac agacctcaac gagcagctcc
      361 agaacttgca gctagccaaa gagatggaga aggatgcctt cgaggcgcag ctggcccagg
      421 tgcgccacga gttccaggag accaaggacc agctcaccac ggagaacatc atccttgggg
      481 ggaagctggc agccctggag gagttccggc tgcagaaaga ggaggtcacg gacaagttca
      541 cattgctgga ggagcaggtg cggaagcagg agaatgagtt cagggactat gcatacaacc
      601 tggagaagaa gtcggtgctg gacaaggaca gactgaggaa agagatcatc cagcgcgtga
      661 acctcgtggc caatgagttc cacaaggtga ccacgaaccg gatgtgggag acaaccaagc
      721 gggccatcaa agagaacaac ggcattaccc tgcagatggc cagggtctcc cagcaaggca
      781 tgaagctgct gcaggagaat gagcagctca agggaagaca gaacaatctg tgcaaacagc
      841 tggagctgct ggagaacacc cagaaggtca tggccaggca caaaagaggc caccagaaga
      901 tcatcctcat gctgactaag aagtgccagg agcagcagca ggacaccaag gaggccgagg
      961 agctgcgcct cctgctgagc cagttggagc agagatccct gcagctgcag gtggataacc
     1021 aggcactgaa gagccagaga gaccagctga gcctgcagct ggagcagcag caggtggatt
     1081 tgcagcggct acagcaggaa ctggctaatg agcagaaggt tcgggccagc ctggaggcgg
     1141 ctctggtcca ggccacctcc ttcctacaga acattctgca gatgcaccgc gatgaagagg
     1201 acagtgacgt tgacgtgacg ttccagccat ggcacaagga gatgctgcag caactgctgg
     1261 tcatgctcag ctccactgtg gccacgagac ctcagaaggc tgcgtgtccc caccaggagt
     1321 cacagtccca tggcccaccc aaggagagcc ggcccagcat ccagctgccc aggactgggt
     1381 ctctgctgcc gcagctctct gacatcaccc cctaccagcc gggggatcta ggcctggtac
     1441 ctcgccaggt ccacatccca cccaaccccc aggacctcag gctgctgtca tatatcaccc
     1501 gtgtggggac cttccgggca cacagcagcc ctgagatgcg tgcccctggt tctctaaaaa
     1561 ggcttgaaaa gtttagtctt cctgaagttc ccctacgtcc caagtaggac acagagagaa
     1621 gaacctactc cagaaatgga ctggtccagt cacagtcacc cccactttaa tccgcaggca
     1681 gcctggaaca gtctagagga gatttgtata aaaagtagat accaaggctg gcgtggcagc
     1741 tctgtggcag tggctgggtt ggtgggcact acagtcaggc aggcagccat ggccactagt
     1801 gtcacggccc cagtgagggc ccctggcttc gctcacggat gtggtccaag atcaggtcgg
     1861 tggctcgatc cagcaacaga ggcagcagct cctgctcagc aggggagaag cagcccagca
     1921 catgggcctg aaccgcctca gggtgcgccg ggcgcccgat acccacccgc agccttggca
     1981 ttgcctgtgg gagagccaga gaggcccagg aagctttggc gaggtgctgg gggacccctg
     2041 gcccacccga cccagttgca caacaaaagg gtagactcac attggagttg aggcagctaa
     2101 tgcaggaacg gactccattg tggccccttc aagggatatg ggaggggcag ttagtgcctc
     2161 cctggggcag tgtccttcca cccctccctg ccccggctgg gtcagagcag cccatttcct
     2221 gtggagactg ggtcagcagc cctactccac cccaactggg aggcctgaag ccctatccca
     2281 accctgacca tctcaggacc tcacctggca ctgcccccca gcttcagagc cagtctcccc
     2341 aggggcttgt ccagctcatc atgcaccagg tagacttcct cggcagtcag cccaaacagc
     2401 tccgcttagc acagggaaac ggcagccctg gttactgccc atctgcccag agaggcactg
     2461 tcccgactcc catgatgagg gaccacaact aatcccactt cacatataaa gaaactgagg
     2521 ccccccgaag tacccaaagc catgcagcaa ctggagctca acaggtactt ggaggtgaac
     2581 ccgcggatct gtcacagcca gtgctcccct ctggcccccg cgccccaacc cccaccccct
     2641 tggcccgccc gcccacccct ggcgctctca actcaccagc ccgggccacg ctgcgcccgt
     2701 tggcgttcat aagccgccgt ggccggagca ggaccagttg ggcatccccc agcggggcca
     2761 gggcgaggtc ggcggcacag tgccggtcgc gcgtccaact ctccgccaca cccagccgcc
     2821 gcgccagctg ccccagcacc gccatgccca cgctgtgtcg cgtgccgggc agtccgggat
     2881 tccccaggcc agccacctgc gggcggcacc agggaaactg aggcccaaca actctcgcca
     2941 cccccgatct cacagcgtcc cgtgggcccc aacgcagagg agcggaaacg cagagcaacg
     3001 ctgcagtggg gaaggggcgc gaagaagggg cccagaaacc cgacccctga gaactccaga
     3061 aggctgggca ggcagggcgc cctagtgcag gaacggagct tcaagaagtt tggagcccgt
     3121 cgagcactga actcaccagt taagaaaaca gagcagcaat ttgggggcac tcggctcccg
     3181 ggacataatg gccgaactga agctagggac cgggagcccc tacgtcgccg ccccacgcca
     3241 ctcaccatcc accgcttccc cggggggcga ggctccaaaa cacatcggct catggctcta
     3301 ctcagccgct gtccggcgcc caaaaagccg cccggcctca tgctgccccc attcactccg
     3361 acaccgcccc ctgacgtcat caccccgcag cagccaatcg tgttgccaac tgtttggcgt
     3421 ccaccgccaa cgtccaatcc gggccgggct acgtggccgc catgcttctg aggggcggaa
     3481 gcggcgaggc ggtggccgag tccgggaacc caggcgcctt cagtagcgcg gcgtcacagt
     3541 gtcccttcgg gacttgtgtg ggacgctcgg agctcttgct tgaccttcgg ttgggaggcc
     3601 ttgttatgcc ccccgctatg gccctgactt gcggcgaaaa tctggcaagt cctttccccg
     3661 ctgtaggcct caacctctcc agctaataaa agttttctac ctcc
//
LOCUS       NM_001012503            1403 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA.
ACCESSION   NM_001012503
VERSION     NM_001012503.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1403)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1403)
  AUTHORS   Yahagi S, Shibuya K, Obayashi I, Masaki H, Kurata Y, Kudoh J and
            Shimizu N.
  TITLE     Identification of two novel clusters of ultrahigh-sulfur
            keratin-associated protein genes on human chromosome 11
  JOURNAL   Biochem Biophys Res Commun 318 (3), 655-664 (2004)
   PUBMED   15144888
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AB126076.1, BC136967.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000398536.6/ ENSP00000417330.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB126076.1 and AP000867.5.
            On May 17, 2019 this sequence version replaced NM_001012503.1.
FEATURES             Location/Qualifiers
     source          1..1403
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..1403
                     /gene="KRTAP5-7"
                     /gene_synonym="KRTAP5-3; KRTAP5.7"
                     /note="keratin associated protein 5-7"
                     /db_xref="GeneID:440050"
                     /db_xref="HGNC:HGNC:23602"
     CDS             35..532
                     /gene="KRTAP5-7"
                     /gene_synonym="KRTAP5-3; KRTAP5.7"
                     /note="keratin-associated protein 5-3; keratin-associated
                     protein 5.3; keratin-associated protein 5.7; ultrahigh
                     sulfur keratin-associated protein 5.7"
                     /codon_start=1
                     /product="keratin-associated protein 5-7"
                     /protein_id="NP_001012521.1"
                     /db_xref="CCDS:CCDS41682.1"
                     /db_xref="GeneID:440050"
                     /db_xref="HGNC:HGNC:23602"
                     /translation="MGCCGCSEGCGSGCGGCGSGCGGCGSGCGGCGSSCCVPVCCCKPV
                     CCCVPACSCSSCGSCGGSKGGCGSCGGSKGGCGSCGGSKGGCGSCGCSQCSCYKPCCCS
                     SGCGSSCCQSSCCKPCCCQSSCCKPCCCSSGCGSSCCQSSCCNPCCSQSSCCVPVCCQC
                     KI"
     misc_feature    137..508
                     /gene="KRTAP5-7"
                     /gene_synonym="KRTAP5-3; KRTAP5.7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6L8G8.1);
                     Region: 7 X 4 AA repeats of C-C-X-P"
     regulatory      953..958
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRTAP5-7"
                     /gene_synonym="KRTAP5-3; KRTAP5.7"
                     /note="hexamer: AATAAA"
     polyA_site      981
                     /gene="KRTAP5-7"
                     /gene_synonym="KRTAP5-3; KRTAP5.7"
                     /note="major polyA site"
     regulatory      1383..1388
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRTAP5-7"
                     /gene_synonym="KRTAP5-3; KRTAP5.7"
                     /note="hexamer: AATAAA"
     polyA_site      1403
                     /gene="KRTAP5-7"
                     /gene_synonym="KRTAP5-3; KRTAP5.7"
                     /note="major polyA site"
ORIGIN
        1 cctctacctg ctccaccctc aatccaccag aaccatgggc tgctgtggct gttccgaagg
       61 ctgtggctcc ggctgtgggg gctgtggctc cggctgtggg ggctgtggct ctggctgtgg
      121 gggatgtggc tccagctgct gtgtgcccgt ctgctgctgc aagcccgtgt gctgctgtgt
      181 gccagcctgt tcctgctcca gctgtggctc ctgtgggggc tccaagggag gctgtggctc
      241 ctgtgggggc tccaaggggg gctgtggctc ttgtgggggt tctaaggggg gctgtggttc
      301 ttgtggctgc tcccagtgca gctgctataa gccctgctgc tgctcctcag gctgtgggtc
      361 atcctgctgc cagtccagct gctgtaagcc ctgctgctgc cagtccagct gctgtaagcc
      421 ctgctgctgt tcctcaggct gtgggtcatc ctgctgccag tccagttgct gcaatccctg
      481 ctgctcccag tctagctgct gtgtccccgt gtgctgccag tgtaagatct gaggctctgg
      541 actcaggtct catgtgagtc ctgctaaccc cattttccga agctgtgacc tgtccttcat
      601 cgttgagccc caaaccactg ctcagggtcc attcctcact ataagatgaa gccatatctg
      661 cctgcctttt cctaaggaga gtccacccta attaatgtcc attccctcct aacaaattct
      721 cttcccaagt caactgcaac tgcggctgaa tcacccctca cccgctagcc ttgcctttgc
      781 ttgtgtattc agaggcctga gctcctgaac ccacttgaag tcctgtcttt tccagctgga
      841 gcagctgggc atgagtgtcc cacctgcaac aaggtgggcg tttaagaggc ttccttggag
      901 tggctttgcc tgtccaacac tctgctttat cttaaatgaa aagttgcaaa ctaataaaaa
      961 taccatgccg acaaactgaa acacatatct tgctgatttc tctgttgttc ggggtcatta
     1021 ctatggctat ggctattgtt ttcttgttct tgttgtgttt cggactgcgt gggtctgatg
     1081 ctgatgttgc tggaaggtgc taggatgggg ctggctgtct cctctgcctc tcatctcctt
     1141 cctggctgac ccctcttttc tcagaacccc tctcttccta ggtctttcca gctattgatc
     1201 tgatggagac aggactgttc ctcaggccag ggccacagaa gcagaagagg ctgctgaaaa
     1261 ctctggggag ttcagacttg cctcctttcc ctggtccagg cctctgccat cttcctttgg
     1321 gaagtttttg taaccaactt actctgattg tctttgttgt tacacagcct gttgcctctg
     1381 taaataaaca ctcctagcac caa
//
LOCUS       NM_001012507             809 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens centromere protein W (CENPW), transcript variant 2,
            mRNA.
ACCESSION   NM_001012507
VERSION     NM_001012507.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 809)
  AUTHORS   Tian T, Chen L, Dou Z, Yang Z, Gao X, Yuan X, Wang C, Liu R, Shen Z,
            Gui P, Teng M, Meng X, Hill DL, Li L, Zhang X, Liu X, Sun L, Zang J
            and Yao X.
  TITLE     Structural insights into human CCAN complex assembled onto DNA
  JOURNAL   Cell Discov 8 (1), 90 (2022)
   PUBMED   36085283
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 809)
  AUTHORS   Yawut N, Kaowinn S, Cho IR, Budluang P, Kim S, Kim S, Youn SE, Koh
            SS and Chung YH.
  TITLE     Translocalization of enhanced PKM2 protein into the nucleus induced
            by cancer upregulated gene 2 confers cancer stem cell-like
            phenotypes
  JOURNAL   BMB Rep 55 (2), 98-103 (2022)
   PUBMED   35000669
  REMARK    GeneRIF: Translocalization of enhanced PKM2 protein into the nucleus
            induced by cancer upregulated gene 2 confers cancer stem cell-like
            phenotypes.
REFERENCE   3  (bases 1 to 809)
  AUTHORS   Aygun N, Elwell AL, Liang D, Lafferty MJ, Cheek KE, Courtney KP,
            Mory J, Hadden-Ford E, Krupa O, de la Torre-Ubieta L, Geschwind DH,
            Love MI and Stein JL.
  TITLE     Brain-trait-associated variants impact cell-type-specific gene
            regulation during neurogenesis
  JOURNAL   Am J Hum Genet 108 (9), 1647-1668 (2021)
   PUBMED   34416157
  REMARK    GeneRIF: Brain-trait-associated variants impact cell-type-specific
            gene regulation during neurogenesis.
REFERENCE   4  (bases 1 to 809)
  AUTHORS   Zhou Y, Chai H, Guo L, Dai Z, Lai J, Duan J, Liu Y and Ding Q.
  TITLE     Knockdown of CENPW Inhibits Hepatocellular Carcinoma Progression by
            Inactivating E2F Signaling
  JOURNAL   Technol Cancer Res Treat 20, 15330338211007253 (2021)
   PUBMED   33973496
  REMARK    GeneRIF: Knockdown of CENPW Inhibits Hepatocellular Carcinoma
            Progression by Inactivating E2F Signaling.
REFERENCE   5  (bases 1 to 809)
  AUTHORS   Kaowinn S, Seo EJ, Heo W, Bae JH, Park EJ, Lee S, Kim YJ, Koh SS,
            Jang IH, Shin DH and Chung YH.
  TITLE     Cancer upregulated gene 2 (CUG2), a novel oncogene, promotes
            stemness-like properties via the NPM1-TGF-beta signaling axis
  JOURNAL   Biochem Biophys Res Commun 514 (4), 1278-1284 (2019)
   PUBMED   31113615
  REMARK    GeneRIF: The novel CUG2 oncogene promotes cellular transformation
            and stemness, mediated by nuclear NPM1 protein and TGF-beta
            signaling.
REFERENCE   6  (bases 1 to 809)
  AUTHORS   Park EH, Park EH, Cho IR, Srisuttee R, Min HJ, Oh MJ, Jeong YJ, Jhun
            BH, Johnston RN, Lee S, Koh SS and Chung YH.
  TITLE     CUG2, a novel oncogene confers reoviral replication through Ras and
            p38 signaling pathway
  JOURNAL   Cancer Gene Ther 17 (5), 307-314 (2010)
   PUBMED   20075984
  REMARK    GeneRIF: data indicate that activation of p38 MAPK and Ras has
            critical roles in reoviral replication in CUG2-expressing tumor
            cells.
REFERENCE   7  (bases 1 to 809)
  AUTHORS   Kim H, Lee M, Lee S, Park B, Koh W, Lee DJ, Lim DS and Lee S.
  TITLE     Cancer-upregulated gene 2 (CUG2), a new component of centromere
            complex, is required for kinetochore function
  JOURNAL   Mol Cells 27 (6), 697-701 (2009)
   PUBMED   19533040
  REMARK    GeneRIF: CUG2 is a new component of the human centromeric complex
            that is required for proper chromosome segregation during mitosis.
REFERENCE   8  (bases 1 to 809)
  AUTHORS   Barrett JC, Clayton DG, Concannon P, Akolkar B, Cooper JD, Erlich
            HA, Julier C, Morahan G, Nerup J, Nierras C, Plagnol V, Pociot F,
            Schuilenburg H, Smyth DJ, Stevens H, Todd JA, Walker NM and Rich SS.
  CONSRTM   Type 1 Diabetes Genetics Consortium
  TITLE     Genome-wide association study and meta-analysis find that over 40
            loci affect risk of type 1 diabetes
  JOURNAL   Nat Genet 41 (6), 703-707 (2009)
   PUBMED   19430480
REFERENCE   9  (bases 1 to 809)
  AUTHORS   Hori T, Amano M, Suzuki A, Backer CB, Welburn JP, Dong Y, McEwen BF,
            Shang WH, Suzuki E, Okawa K, Cheeseman IM and Fukagawa T.
  TITLE     CCAN makes multiple contacts with centromeric DNA to provide
            distinct pathways to the outer kinetochore
  JOURNAL   Cell 135 (6), 1039-1052 (2008)
   PUBMED   19070575
  REMARK    GeneRIF: Study demonstrates that CENP-W forms a DNA-binding complex
            together with the CCAN component CENP-T; this complex directly
            associates with nucleosomal DNA and with canonical histone H3, but
            not with CENP-A, in centromeric regions.
REFERENCE   10  (bases 1 to 809)
  AUTHORS   Lee S, Gang J, Jeon SB, Choo SH, Lee B, Kim YG, Lee YS, Jung J, Song
            SY and Koh SS.
  TITLE     Molecular cloning and functional analysis of a novel oncogene,
            cancer-upregulated gene 2 (CUG2)
  JOURNAL   Biochem Biophys Res Commun 360 (3), 633-639 (2007)
   PUBMED   17610844
  REMARK    GeneRIF: These findings suggest CUG2 is a novel tumor-associated
            gene that is commonly activated in various human cancers and
            exhibits high transforming activities; it possibly belongs to a
            transcription regulator family that is involved in tumor biogenesis.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BM721156.1, SRR14038196.1053535.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368328.5/ ENSP00000357311.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC039556.2, AC020559.4 and BM721156.1.
            On Feb 27, 2020 this sequence version replaced NM_001012507.3.
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 1,
            resulting in an isoform (b) that is shorter than isoform a.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..809
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.32"
     gene            1..809
                     /gene="CENPW"
                     /gene_synonym="C6orf173; CENP-W; CUG2"
                     /note="centromere protein W"
                     /db_xref="GeneID:387103"
                     /db_xref="HGNC:HGNC:21488"
                     /db_xref="MIM:611264"
     misc_feature    133..135
                     /gene="CENPW"
                     /gene_synonym="C6orf173; CENP-W; CUG2"
                     /note="upstream in-frame stop codon"
     CDS             160..426
                     /gene="CENPW"
                     /gene_synonym="C6orf173; CENP-W; CUG2"
                     /note="isoform b is encoded by transcript variant 2;
                     cancer-upregulated gene 2; cancer-up-regulated gene 2
                     protein"
                     /codon_start=1
                     /product="centromere protein W isoform b"
                     /protein_id="NP_001012525.1"
                     /db_xref="CCDS:CCDS34529.1"
                     /db_xref="GeneID:387103"
                     /db_xref="HGNC:HGNC:21488"
                     /db_xref="MIM:611264"
                     /translation="MALSTIVSQRKQIKRKAPRGFLKRVFKRKKPQLRLEKSGDLLVHL
                     NCLLFVHRLAEESRTNACASKCRVINKEHVLAAAKVILKKSRG"
     regulatory      521..526
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CENPW"
                     /gene_synonym="C6orf173; CENP-W; CUG2"
                     /note="hexamer: ATTAAA"
     polyA_site      542
                     /gene="CENPW"
                     /gene_synonym="C6orf173; CENP-W; CUG2"
                     /note="major polyA site"
     regulatory      717..722
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CENPW"
                     /gene_synonym="C6orf173; CENP-W; CUG2"
                     /note="hexamer: ATTAAA"
     polyA_site      737
                     /gene="CENPW"
                     /gene_synonym="C6orf173; CENP-W; CUG2"
ORIGIN
        1 gttccgttgg cggcggattc gaacgttcgg actgaggttt ttctgcctga agaagcgtca
       61 tacggaccgg attgttttcg ctggcccagt gtccccggag cttgtgtgcg atacagagag
      121 cacctcggaa gctgaggcag ctggtacttg acagagagga tggcgctgtc gaccatagtc
      181 tcccagagga agcagataaa gcggaaggct ccccgtggct ttctaaagcg agtcttcaag
      241 cgaaagaagc ctcaacttcg tctggagaaa agtggtgact tattggtcca tctgaactgt
      301 ttactgtttg ttcatcgatt agcagaagag tccaggacaa acgcttgtgc gagtaaatgt
      361 agagtcatta acaaggagca tgtactggcc gcagcaaagg taattctaaa gaagagcaga
      421 ggttagaagt caaagaacat attcttgaaa gttatgatgc attcttttgg gtggtaacag
      481 atcataaaga cattttttac acatcagtta atatgggatt attaaatatt ggctataagt
      541 gatgtgtgtg tttgtatttt ttttctggca tgaaatatct caagtaaatg cataggacta
      601 tttaaccctt ttatgggaat tactattatt tttattttaa atgtcctcta gttcagtttg
      661 cttttgtttt gttgctgctg caaatatttt atgtatcaaa aatgaaatct tactatatta
      721 aatactttga aaatgtactt cttagaatta agtttatata tatttagatt tagccacagt
      781 taactatgga atttaatctc tgaagaaag
//
LOCUS       NM_001012614            2488 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens C-terminal binding protein 1 (CTBP1), transcript
            variant 2, mRNA.
ACCESSION   NM_001012614
VERSION     NM_001012614.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2488)
  AUTHORS   Zhou J, Yan X, Liu Y and Yang J.
  TITLE     Succinylation of CTBP1 mediated by KAT2A suppresses its inhibitory
            activity on the transcription of CDH1 to promote the progression of
            prostate cancer
  JOURNAL   Biochem Biophys Res Commun 650, 9-16 (2023)
   PUBMED   36764210
  REMARK    GeneRIF: Succinylation of CTBP1 mediated by KAT2A suppresses its
            inhibitory activity on the transcription of CDH1 to promote the
            progression of prostate cancer.
REFERENCE   2  (bases 1 to 2488)
  AUTHORS   Lou LQ, Zhou WQ, Song X and Chen Z.
  TITLE     Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex
            targets ATXN1 to trigger NF-kappaB-dependent inflammation response
  JOURNAL   J Mol Med (Berl) 101 (3), 223-235 (2023)
   PUBMED   36629882
  REMARK    GeneRIF: Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1
            complex targets ATXN1 to trigger NF-kappaB-dependent inflammation
            response.
REFERENCE   3  (bases 1 to 2488)
  AUTHORS   Tseng C, Han Y, Lv Z, Song Q, Wang K, Shen H and Chen Z.
  TITLE     The CRL4DCAF6 E3 ligase ubiquitinates CtBP1/2 to induce apoptotic
            signalling and promote intervertebral disc degeneration
  JOURNAL   J Mol Med (Berl) 101 (1-2), 171-181 (2023)
   PUBMED   36688959
  REMARK    GeneRIF: The CRL4[DCAF6] E3 ligase ubiquitinates CtBP1/2 to induce
            apoptotic signalling and promote intervertebral disc degeneration.
REFERENCE   4  (bases 1 to 2488)
  AUTHORS   Ferrarese R, Izzo A, Andrieux G, Lagies S, Bartmuss JP, Masilamani
            AP, Wasilenko A, Osti D, Faletti S, Schulzki R, Yuan S, Kling E,
            Ribecco V, Heiland DH, Tholen S, Prinz M, Pelicci G, Kammerer B,
            Boerries M and Carro MS.
  TITLE     ZBTB18 inhibits SREBP-dependent lipid synthesis by halting CTBPs and
            LSD1 activity in glioblastoma
  JOURNAL   Life Sci Alliance 6 (1), e202201400 (2022)
   PUBMED   36414381
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2488)
  AUTHORS   Acosta-Baena N, Tejada-Moreno JA, Arcos-Burgos M and Villegas-Lanau
            CA.
  TITLE     CTBP1 and CTBP2 mutations underpinning neurological disorders: a
            systematic review
  JOURNAL   Neurogenetics 23 (4), 231-240 (2022)
   PUBMED   36331689
  REMARK    GeneRIF: CTBP1 and CTBP2 mutations underpinning neurological
            disorders: a systematic review. Review article
REFERENCE   6  (bases 1 to 2488)
  AUTHORS   Schaeper U, Subramanian T, Lim L, Boyd JM and Chinnadurai G.
  TITLE     Interaction between a cellular protein that binds to the C-terminal
            region of adenovirus E1A (CtBP) and a novel cellular protein is
            disrupted by E1A through a conserved PLDLS motif
  JOURNAL   J Biol Chem 273 (15), 8549-8552 (1998)
   PUBMED   9535825
REFERENCE   7  (bases 1 to 2488)
  AUTHORS   Katsanis N and Fisher EM.
  TITLE     A novel C-terminal binding protein (CTBP2) is closely related to
            CTBP1, an adenovirus E1A-binding protein, and maps to human
            chromosome 21q21.3
  JOURNAL   Genomics 47 (2), 294-299 (1998)
   PUBMED   9479502
REFERENCE   8  (bases 1 to 2488)
  AUTHORS   Schaeper U, Boyd JM, Verma S, Uhlmann E, Subramanian T and
            Chinnadurai G.
  TITLE     Molecular cloning and characterization of a cellular phosphoprotein
            that interacts with a conserved C-terminal domain of adenovirus E1A
            involved in negative modulation of oncogenic transformation
  JOURNAL   Proc Natl Acad Sci U S A 92 (23), 10467-10471 (1995)
   PUBMED   7479821
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1998 Nov 24;95(24):14584]
REFERENCE   9  (bases 1 to 2488)
  AUTHORS   Boyd JM, Subramanian T, Schaeper U, La Regina M, Bayley S and
            Chinnadurai G.
  TITLE     A region in the C-terminus of adenovirus 2/5 E1a protein is required
            for association with a cellular phosphoprotein and important for the
            negative modulation of T24-ras mediated transformation,
            tumorigenesis and metastasis
  JOURNAL   EMBO J 12 (2), 469-478 (1993)
   PUBMED   8440238
REFERENCE   10  (bases 1 to 2488)
  AUTHORS   Battaglia,A., Carey,J.C. and South,S.T.
  TITLE     Wolf-Hirschhorn Syndrome - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301362
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.509200.1,
            SRR1163655.31102.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2154405
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000382952.8/ ENSP00000372411.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092535.4, BU553431.1,
            BC053320.1, BC011655.2 and BM989059.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001012614.1.
            Summary: This gene encodes a protein that binds to the C-terminus
            of adenovirus E1A proteins. This phosphoprotein is a
            transcriptional repressor and may play a role during cellular
            proliferation. This protein and the product of a second closely
            related gene, CTBP2, can dimerize. Both proteins can also interact
            with a polycomb group protein complex which participates in
            regulation of gene expression during development. Alternative
            splicing of transcripts from this gene results in multiple
            transcript variants. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2488
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..2488
                     /gene="CTBP1"
                     /gene_synonym="BARS; HADDTS"
                     /note="C-terminal binding protein 1"
                     /db_xref="GeneID:1487"
                     /db_xref="HGNC:HGNC:2494"
                     /db_xref="MIM:602618"
     misc_feature    398..400
                     /gene="CTBP1"
                     /gene_synonym="BARS; HADDTS"
                     /note="upstream in-frame stop codon"
     CDS             404..1693
                     /gene="CTBP1"
                     /gene_synonym="BARS; HADDTS"
                     /note="isoform 2 is encoded by transcript variant 2;
                     brefeldin A-ribosylated substrate"
                     /codon_start=1
                     /product="C-terminal-binding protein 1 isoform 2"
                     /protein_id="NP_001012632.1"
                     /db_xref="CCDS:CCDS43203.1"
                     /db_xref="GeneID:1487"
                     /db_xref="HGNC:HGNC:2494"
                     /db_xref="MIM:602618"
                     /translation="MSGVRPPIMNGPLHPRPLVALLDGRDCTVEMPILKDVATVAFCDA
                     QSTQEIHEKVLNEAVGALMYHTITLTREDLEKFKALRIIVRIGSGFDNIDIKSAGDLGI
                     AVCNVPAASVEETADSTLCHILNLYRRATWLHQALREGTRVQSVEQIREVASGAARIRG
                     ETLGIIGLGRVGQAVALRAKAFGFNVLFYDPYLSDGVERALGLQRVSTLQDLLFHSDCV
                     TLHCGLNEHNHHLINDFTVKQMRQGAFLVNTARGGLVDEKALAQALKEGRIRGAALDVH
                     ESEPFSFSQGPLKDAPNLICTPHAAWYSEQASIEMREEAAREIRRAITGRIPDSLKNCV
                     NKDHLTAATHWASMDPAVVHPELNGAAYRYPPGVVGVAPTGIPAAVEGIVPSAMSLSHG
                     LPPVAHPPHAPSPGQTVKPEADRDHASDQL"
     regulatory      2462..2467
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTBP1"
                     /gene_synonym="BARS; HADDTS"
                     /note="hexamer: AAGAAA"
     regulatory      2466..2471
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTBP1"
                     /gene_synonym="BARS; HADDTS"
                     /note="hexamer: AATAAA"
     polyA_site      2473
                     /gene="CTBP1"
                     /gene_synonym="BARS; HADDTS"
     polyA_site      2488
                     /gene="CTBP1"
                     /gene_synonym="BARS; HADDTS"
                     /note="major polyA site"
ORIGIN
        1 gcccgcgcgg tcgtcggagc gcggctcagc ggcgcggcgg agactcggca cggcggcggc
       61 caggcgcagg cgggcgggcg gagcagcgga cggcgccgag gccgccccac gcgccgggct
      121 cgcggcggcg cagcgcgccg gagtggtcgg ggcccgcggc cgctcgcgcc tctcgatggg
      181 cagctcgcac ttgctcaaca agggcctgcc gcttgtaaga ctttgacccc gacgcaggct
      241 tcagtgattg ccgcggatca gaagcctgag cactttggct cgagacaatt aaggacgtgg
      301 gatgaggctc cgagacagga cgcggttctg cctggggatc ctgaagataa aaagctttga
      361 aaagtcgaat tcatggtcgt ggaagctgag cccatattaa gagatgtcag gcgtccgacc
      421 tccgatcatg aacgggcccc tgcacccgcg gcccctggtg gcattgctgg atggccggga
      481 ctgcacagtg gagatgccca tcctgaagga cgtggccact gtggccttct gcgacgcgca
      541 gtccacgcag gagatccatg agaaggtcct gaacgaggct gtgggggccc tgatgtacca
      601 caccatcact ctcaccaggg aggacctgga gaagttcaaa gccctccgca tcatcgtccg
      661 gattggcagt ggttttgaca acatcgacat caagtcggcc ggggatttag gcattgccgt
      721 ctgcaacgtg cccgcggcgt ctgtggagga gacggccgac tcgacgctgt gccacatcct
      781 gaacctgtac cggcgggcca cctggctgca ccaggcgctg cgggagggca cacgagtcca
      841 gagcgtcgag cagatccgcg aggtggcgtc cggcgctgcc aggatccgcg gggagacctt
      901 gggcatcatc ggacttggtc gcgtggggca ggcagtggcg ctgcgggcca aggccttcgg
      961 cttcaacgtg ctcttctacg acccttactt gtcggatggc gtggagcggg cgctggggct
     1021 gcagcgtgtc agcaccctgc aggacctgct cttccacagc gactgcgtga ccctgcactg
     1081 cggcctcaac gagcacaacc accacctcat caacgacttc accgtcaagc agatgagaca
     1141 aggggccttc ctggtgaaca cagcccgggg tggcctggtg gatgagaagg cgctggccca
     1201 ggccctgaag gagggccgga tccgcggcgc ggccctggat gtgcacgagt cggaaccctt
     1261 cagctttagc cagggccctc tgaaggatgc acccaacctc atctgcaccc cccatgctgc
     1321 atggtacagc gagcaggcat ccatcgagat gcgagaggag gcggcacggg agatccgcag
     1381 agccatcaca ggccggatcc cagacagcct gaagaactgt gtcaacaagg accatctgac
     1441 agccgccacc cactgggcca gcatggaccc cgccgtcgtg caccctgagc tcaatggggc
     1501 tgcctatagg taccctccgg gcgtggtggg cgtggccccc actggcatcc cagctgctgt
     1561 ggaaggtatc gtccccagcg ccatgtccct gtcccacggc ctgccccctg tggcccaccc
     1621 gccccacgcc ccttctcctg gccaaaccgt caagcccgag gcggatagag accacgccag
     1681 tgaccagttg tagcccggga ggagctctcc agcctcggcg cctgggcaga gggcccggaa
     1741 accctcggac cagagtgtgt ggaggaggca tctgtgtggt ggccctggca ctgcagagac
     1801 tggtccgggc tgtcaggagg cgggaggggg cagcgctggg cctcgtgtcg cttgtcgtcg
     1861 tccgtcctgt gggcgctctg ccctgtgtcc ttcgcgttcc tcgttaagca gaagaagtca
     1921 gtagttattc tcccatgaac gttcttgtct gtgtacagtt tttagaacat tacaaaggat
     1981 ctgtttgctt agctgtcaac aaaaagaaaa cctgaaggag catttggaag tcaatttgag
     2041 gttttttttt ttgttttttt tttttttgta tgttggaacg tgccccagaa tgaggcagtt
     2101 ggcaaacttc tcaggacaat gaatccttcc cgtttttctt tttatgccac acagtgcatt
     2161 gttttttcta cctgcttgtc ttatttttag aataatttag aaaaacaaaa caaaggctgt
     2221 ttttcctaat tttggcatga accccccctt gttccaaatg aagacggcat cacgaagcag
     2281 ctccaaaagg aaaagcttgg gcggtgccca gcgtgcccgc tgcccatcga cgtctgtcct
     2341 ggggacgtgg agggtggcag cgtccccgcc tgcaccagtg ccgtcctgct gatgtggtag
     2401 gctagcaata ttttggttaa aatcatgttt gtgactgtaa ccatttgtat gaattatttt
     2461 aaagaaataa aaatcctgga aagagcca
//
LOCUS       NM_001012642            3284 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens GRAM domain containing 2A (GRAMD2A), mRNA.
ACCESSION   NM_001012642
VERSION     NM_001012642.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3284)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3284)
  AUTHORS   Besprozvannaya M, Dickson E, Li H, Ginburg KS, Bers DM, Auwerx J and
            Nunnari J.
  TITLE     GRAM domain proteins specialize functionally distinct ER-PM contact
            sites in human cells
  JOURNAL   Elife 7, e31019 (2018)
   PUBMED   29469807
  REMARK    GeneRIF: GRAMD2a, but not GRAMD1a, co-localizes with the E-Syt2/3
            tethers at endoplasmic reticulum-plasma membrane contact sites in a
            phosphatidylinositol phosphate lipid-dependent manner. Data from an
            analysis of cells lacking GRAMD2a suggest that it is an organizer of
            the membrane contact sites with pleiotropic functions including
            calcium homeostasis. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3284)
  AUTHORS   Luykx JJ, Bakker SC, Lentjes E, Neeleman M, Strengman E, Mentink L,
            DeYoung J, de Jong S, Sul JH, Eskin E, van Eijk K, van Setten J,
            Buizer-Voskamp JE, Cantor RM, Lu A, van Amerongen M, van Dongen EP,
            Keijzers P, Kappen T, Borgdorff P, Bruins P, Derks EM, Kahn RS and
            Ophoff RA.
  TITLE     Genome-wide association study of monoamine metabolite levels in
            human cerebrospinal fluid
  JOURNAL   Mol Psychiatry 19 (2), 228-234 (2014)
   PUBMED   23319000
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC038451.1, AK095072.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000309731.12/ ENSP00000311657.7
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA854662.1, BC038451.1 and BM663624.1.
            On Nov 22, 2018 this sequence version replaced NM_001012642.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3284
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q23"
     gene            1..3284
                     /gene="GRAMD2A"
                     /gene_synonym="GRAMD2"
                     /note="GRAM domain containing 2A"
                     /db_xref="GeneID:196996"
                     /db_xref="HGNC:HGNC:27287"
                     /db_xref="MIM:620181"
     CDS             17..1081
                     /gene="GRAMD2A"
                     /gene_synonym="GRAMD2"
                     /note="GRAM domain-containing protein 2; GRAM domain
                     containing 2"
                     /codon_start=1
                     /product="GRAM domain-containing protein 2A"
                     /protein_id="NP_001012660.1"
                     /db_xref="CCDS:CCDS32283.1"
                     /db_xref="GeneID:196996"
                     /db_xref="HGNC:HGNC:27287"
                     /db_xref="MIM:620181"
                     /translation="MTALSRSEATEEGGNQQMHRKTASLNSPVSCKEKPDRVEEPPDYS
                     LHWPEGLKGEEIKKCGREGITLNKYNQQYHKLFKDVPLEEVVLKVCSCALQRDFLLQGR
                     LYISPNWLCFHASLFGKDIKVVIPVVSVQMIKKHKMARLLPNGLAITTNTSQKYIFVSL
                     LSRDSVYDLLRRVCTHLQPSSKKSLSVREFSGEPESLEVLIPEMKWRKVCPSSRSLSLP
                     DNIPCIPPSSVDSTDSFFPSRKPPMSEKSRAQVASENGGRWAWPMPGWGPACPKKMPNC
                     SPTAKNAVYEEDELEEEPRSTGELRLWDYRLLKVFFVLICFLVMSSSYLAFRISRLEQQ
                     LCSLSWDDPVPGHR"
     misc_feature    17..154
                     /gene="GRAMD2A"
                     /gene_synonym="GRAMD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUY3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    950..1012
                     /gene="GRAMD2A"
                     /gene_synonym="GRAMD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IUY3.2);
                     transmembrane region"
     regulatory      3258..3263
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRAMD2A"
                     /gene_synonym="GRAMD2"
                     /note="hexamer: AATAAA"
     polyA_site      3284
                     /gene="GRAMD2A"
                     /gene_synonym="GRAMD2"
                     /note="major polyA site"
ORIGIN
        1 gggtgcaggc gccgggatga ccgctttaag ccggagcgag gccaccgagg agggcggcaa
       61 ccaacaaatg cacagaaaga cagcttctct gaacagtcct gtgtcctgca aagagaaacc
      121 agacagagtt gaggagcccc cggactacag tctgcactgg ccagaaggct tgaagggtga
      181 agagataaag aagtgtggcc gagaagggat aacactgaat aaatacaacc agcaatacca
      241 caagctgttt aaggatgttc ccttggagga agtggttctc aaagtgtgtt cctgtgccct
      301 ccagagggac ttcctcctcc agggccggct ctacatctcc cccaactggc tctgcttcca
      361 tgccagcctc tttggcaagg atatcaaggt ggtcattcct gtggtgtctg tgcaaatgat
      421 caaaaaacac aagatggcac ggctccttcc caatggactg gccatcacca ccaacaccag
      481 ccagaagtat atctttgtgt cactgctctc ccgggacagt gtatatgacc tgctgaggag
      541 agtctgcacc cacctacagc cttccagcaa gaagagtctg agtgtaagag aattttcagg
      601 ggaacctgag tctctggaag tcctcatccc tgagatgaag tggagaaagg tatgcccttc
      661 ctccaggtcc ctgtctctcc cagacaacat cccttgtatc cctccatcat ccgtggactc
      721 cacagacagt ttcttcccct ccaggaagcc tccaatgtct gaaaagtcaa gagcccaagt
      781 agcttcagaa aatggtggga ggtgggcatg gcccatgcca ggctggggtc ctgcctgccc
      841 taagaagatg ccgaactgct ctcccactgc aaagaatgct gtctatgagg aggatgagct
      901 ggaggaggag cccaggagca ctggggagct gaggctctgg gattaccggc tcctcaaggt
      961 cttctttgtg ctgatctgct tcctggtcat gtcctcatcc tacctggcgt tccgtatttc
     1021 tcggctagag cagcagttat gctccttgag ttgggatgac ccagtccctg ggcacaggta
     1081 acagccactt ggcctttgtc cccattcctt ctccaagaag aatgttctgg gtgctaagtc
     1141 tccaccaatg atccctgtgg tttatgctgc tgctgtgcta agactgccta tgaaggaaaa
     1201 tattccagat ccctcctcct ccccgcagct cttctcttcc ctctatgaga gatctgaagt
     1261 acgtgtttac aaagtaactg gcttctacaa tttttggact caagcaaaaa gccagatttt
     1321 ttggaaccaa ctgaggaatt ctgtacacaa agcttcagca aacacttaga gaaaacaaac
     1381 aaacaaacaa actgggtcct tggaaacagt tctggcacac aggcagaaca ctggaggcca
     1441 cctcaaagga cagaggccat gctttcgcat ttggaatgtg gctctgccac acagctcact
     1501 cctatggtgg ggtcagaggt cagaacacaa accacccatg tgggctctgc tccctcccaa
     1561 cactctgtgt tcccacaggg cttctctgcg ggcagccagg cacctgtcag gcttgggcag
     1621 gggcctgctg agaatctgtg aatgcagagg ggagggctca tggccaggat tccagccaga
     1681 gatgaatttc catgctctgg gccagggctc tgtgccggcc cctcatgagg tggctggctg
     1741 cattatgggg agatgctgcc cacggcggag atggtggcag tggctgtgaa gaacagaggt
     1801 acctgaattc tgtgtcctca gctgtcactt tccggtgaga caagtggagc agggcctttg
     1861 atcactgtgg tcacagacct ggtactgggt tttgcccttg tgtgctcaaa catttctaag
     1921 gtgtcccaag ccctggaaat agggaaggga agggtggagg cttggatctg aggtcttgct
     1981 gtccactccc tgcctgcctg cccgcatctc aggcatggcc aacagcagcc cgttgagggg
     2041 ggcttgtctg gacagttgcg tgtgatggtg ttgagccatc acagggcaga ggtcacttgt
     2101 gtcaccccca tagtcattgg gttgcaggcc atggaggagg gacctccact ccatggggcc
     2161 tattctccat taaggtggaa gtgtccactg tgggcctagc acagtgcagg aaccaggcca
     2221 gggggtctat ctcatacctc tggggacagg aaaggtagag gatgaggagg ttggacgtgg
     2281 tggtggcttt gccttggata ttcctcttcc tctatcaagg ccttctcttc ttctctgtgt
     2341 cccacaactc tggcctcatc gccctgggac tcccatctgc taagatagtg gctttggagg
     2401 ttctggaagg gcttagtgag gaggccagaa gtatcaggga aagttgctgg tgatggggtg
     2461 ggcggtgtca gaagcagcca ctgttttccc ctcttcagac actgagagat taatcaggga
     2521 atgaaatcca ggtggaaatt atttattgtg aagcagacga ctgtctgtcc tgtttatgac
     2581 aaacccaaat gagaattgga gggactacca gtaagtggtc tcttcatgct ctccccatcc
     2641 cagtttttag gatgaaattt agagcctggc cttttgtgtt gcttgcacca aatctgtatg
     2701 tctcaggtga aactcactgt tccatgaatg gtcatccttt tttttttttt ttttttggaa
     2761 ccagcccctt tcaccctttc atccgtcttt tttttttagg aaaataaccc ttcttgcttc
     2821 agcacttctc cctggtcctt gctgaaagac agagataaaa atccattctc tgagccttgc
     2881 ttggttgtca gaggccatga gaggtgccag ttataggtgg atgtgccaag atgctggtga
     2941 acttggtctt cagctatacc caggctcaga aagggcaaga gccatgctgc agcgtaggtg
     3001 actttggagg tgcacttggg gcccagggct ttgagtgttg cgggtgtgcc tgtccctcca
     3061 gatagtgctc tgtttctctc tgttgtcccc ctgcctggtc ctctggggcc actgtgcttt
     3121 ctgctgtgtg catttataaa tgatgtgtat tttatataga cctgcttgca ttggctgatg
     3181 ctcctctaat tccctgagtt tgattcaacc acccttgggt tgttttgcta tggccttagc
     3241 ctttgaaaat attttaaaat aaaaaacttg atttttctag tgta
//
LOCUS       NM_001012643            1896 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens Myb related transcription factor, partner of profilin
            (MYPOP), mRNA.
ACCESSION   NM_001012643
VERSION     NM_001012643.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1896)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1896)
  AUTHORS   Lederer M, Jockusch BM and Rothkegel M.
  TITLE     Profilin regulates the activity of p42POP, a novel Myb-related
            transcription factor
  JOURNAL   J Cell Sci 118 (Pt 2), 331-341 (2005)
   PUBMED   15615774
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.448367.1,
            SRR3476690.560009.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2162946
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000322217.6/ ENSP00000325402.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008623.4, BC044311.1 and BU196283.1.
            On Nov 22, 2018 this sequence version replaced NM_001012643.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1896
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..1896
                     /gene="MYPOP"
                     /gene_synonym="P42pop"
                     /note="Myb related transcription factor, partner of
                     profilin"
                     /db_xref="GeneID:339344"
                     /db_xref="HGNC:HGNC:20178"
                     /db_xref="MIM:617861"
     CDS             97..1296
                     /gene="MYPOP"
                     /gene_synonym="P42pop"
                     /note="p42 Myb-related transcription factor, partner of
                     profilin; myb-related protein p42POP"
                     /codon_start=1
                     /product="myb-related transcription factor, partner of
                     profilin"
                     /protein_id="NP_001012661.1"
                     /db_xref="CCDS:CCDS33055.1"
                     /db_xref="GeneID:339344"
                     /db_xref="HGNC:HGNC:20178"
                     /db_xref="MIM:617861"
                     /translation="MASAAAGEAEETTRLRKPRFSFEENQILIREVRAHYPQLYGAQSR
                     RVSVAERRRVWDGIAAKINGITSWKRTGQEVQKRWNDFKRRTKEKLARVPHSTQGAGPA
                     AEDAFSAEEETIFAILGPGVAAPGAGAGAEEPPAAPSSQPPPPSACPQRYVLSEDRRED
                     RRADTSAHSKAGSSSPEPWARPSCTPQEGGCPRPKERESPPPSALQPVQLPRLALSPPP
                     PAPPLPPPPPLAQVAPSPPSPPPPPRPPPTLSASDPSLDFLRAQQETANAIRELAGTLR
                     QGLAKLSEALSALLPLLPGTPVDSLPPPLPPPPPPPPPPRPVLPPPAPKVEITPEPVSV
                     VAAVVDGAVVAARGVIIAPRSEEGAPRPPPAPLPPHDSPPHKRRKGFPTRKRRGRWKSP
                     "
     misc_feature    343..354
                     /gene="MYPOP"
                     /gene_synonym="P42pop"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VE0.2);
                     Region: Nuclear localization signal. /evidence=ECO:0000250"
     misc_feature    355..420
                     /gene="MYPOP"
                     /gene_synonym="P42pop"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VE0.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    475..879
                     /gene="MYPOP"
                     /gene_synonym="P42pop"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VE0.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    985..1092
                     /gene="MYPOP"
                     /gene_synonym="P42pop"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VE0.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1168..1293
                     /gene="MYPOP"
                     /gene_synonym="P42pop"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VE0.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1240..1251
                     /gene="MYPOP"
                     /gene_synonym="P42pop"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VE0.2);
                     Region: Nuclear localization signal. /evidence=ECO:0000250"
     misc_feature    1264..1275
                     /gene="MYPOP"
                     /gene_synonym="P42pop"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VE0.2);
                     Region: Nuclear localization signal. /evidence=ECO:0000250"
     regulatory      1875..1880
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYPOP"
                     /gene_synonym="P42pop"
                     /note="hexamer: AATAAA"
     polyA_site      1896
                     /gene="MYPOP"
                     /gene_synonym="P42pop"
                     /note="major polyA site"
ORIGIN
        1 gcagaagccc gagccctgac ccaccggcgg ctgcggcgga gccgcgccgg cgccccccat
       61 gcgccagacg gcaggacggc ggcgtcgggg ggcgccatgg cctcggcggc ggcgggcgaa
      121 gcggaggaaa ccacccggtt gcgcaagccg cgcttctcat tcgaagagaa ccagatcctg
      181 atccgcgagg tgcgcgccca ctacccgcag ctctacggcg cgcagagccg tcgggtgagc
      241 gtggcagagc ggcggcgcgt gtgggacggc atcgccgcca agatcaacgg tatcaccagc
      301 tggaagcgca cgggccagga ggtgcagaag cgctggaacg acttcaagcg ccgcaccaag
      361 gagaagctcg ctcgcgtgcc gcactccacg cagggcgccg ggcccgccgc ggaggacgct
      421 ttctccgcgg aagaggagac catttttgcc atcctggggc caggtgtggc ggcgccgggg
      481 gcaggtgctg gggcggagga gccccctgcg gccccctctt cacagccgcc gcccccaagc
      541 gcctgccctc agcgctacgt gttgtcggaa gaccgccggg aggaccgacg tgcagataca
      601 tcagcccaca gcaaggcggg ctccagcagc ccggagccat gggcccggcc ctcctgcact
      661 ccccaggaag ggggctgccc acggcccaag gagcgtgagt caccaccccc ttcggccctg
      721 cagccggtcc agctgcctcg cctggccttg tctccaccac ccccagcccc tccactgcca
      781 cccccaccgc cactggccca agtggcaccc tcacccccta gccccccacc ccctcctcgg
      841 cctccaccca cgctctcggc ctcagacccc tccctggact tcctgcgggc ccagcaggag
      901 actgccaacg ccatccggga gctggccggc acccttcgac agggactggc caaactgagc
      961 gaggccctca gcgctctgct gccccttctg ccaggaaccc cagttgactc cctgcctcca
     1021 cctctgcccc cacccccacc cccaccgcca cctcccaggc ctgtcctgcc cccaccggcc
     1081 cccaaggtgg agatcacccc agagcccgtg tccgtggtgg ctgctgtggt ggacggggca
     1141 gtggtggcag ccaggggagt gatcattgcc ccaaggagcg aggagggggc accccggccc
     1201 cccccagccc cgctccctcc gcacgactcc cccccacaca agcggagaaa aggtttccct
     1261 acacggaaaa ggcgcggccg atggaaatct ccgtgaaatc tactatctat gatcctgcct
     1321 gcaacccctc tccccagctt ggcgcagtcg aggggggcga tgctctctgc ccatcccagc
     1381 tgcaccctag ctccctgctc cagggatgtg agcacccact ccctgtgcta gttagtgcct
     1441 gattctctgg ggggggcctc agtaatgggc ccccccaacc cctttctctg gtacagtgct
     1501 gtctgcctgg ctgcctccct taaccctgac ttctaagcca tcaatttcat gttatttatt
     1561 attgccctat gtggggtggg gagggaacct ctcgggtctg cacatctccc cttccctaac
     1621 agttcctgtt cttgacttga agagaattga cccgtggggg actccccacc tccccaaccc
     1681 agactttgga gcgggtggga gttgtaagac aaatcaaaat acggatgaca aagaggatat
     1741 agccgtgtat accccaggga gaggaggcgc cgagttctga tgggagaggt acaggttggg
     1801 ttctctgcct accattgctg tctctgactt ccagagctca accccctcct ttctcccagt
     1861 ggtgacaaga tatcaataaa cttattttta atacaa
//
LOCUS       NM_001012659            5047 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.
ACCESSION   NM_001012659
VERSION     NM_001012659.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5047)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S, Das
            PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A, Ginno
            PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of human
            transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   2  (bases 1 to 5047)
  AUTHORS   Li G and Holland PW.
  TITLE     The origin and evolution of ARGFX homeobox loci in mammalian
            radiation
  JOURNAL   BMC Evol Biol 10, 182 (2010)
   PUBMED   20565723
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5047)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   4  (bases 1 to 5047)
  AUTHORS   Booth HA and Holland PW.
  TITLE     Annotation, nomenclature and evolution of four novel homeobox genes
            expressed in the human germ line
  JOURNAL   Gene 387 (1-2), 7-14 (2007)
   PUBMED   17005330
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: LN901400.1, LN901399.1 [ECO:0000332]
            RNAseq introns :: partial sample support SAMEA2148874 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000334384.5/ ENSP00000335578.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. This record has been curated by NCBI staff in
            collaboration with Anne Booth and Peter Holland. The reference
            sequence was derived from AC069239.16.
            On May 17, 2019 this sequence version replaced NM_001012659.1.
            Summary: Homeobox genes encode DNA-binding proteins, many of which
            are thought to be involved in early embryonic development. Homeobox
            genes encode a DNA-binding domain of 60 to 63 amino acids referred
            to as the homeodomain. This gene is a member of the ARGFX homeobox
            gene family. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..5047
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.33"
     gene            1..5047
                     /gene="ARGFX"
                     /note="arginine-fifty homeobox"
                     /db_xref="GeneID:503582"
                     /db_xref="HGNC:HGNC:30146"
                     /db_xref="MIM:611164"
     misc_feature    60..62
                     /gene="ARGFX"
                     /note="upstream in-frame stop codon"
     CDS             78..1025
                     /gene="ARGFX"
                     /codon_start=1
                     /product="arginine-fifty homeobox"
                     /protein_id="NP_001012677.1"
                     /db_xref="CCDS:CCDS33834.1"
                     /db_xref="GeneID:503582"
                     /db_xref="HGNC:HGNC:30146"
                     /db_xref="MIM:611164"
                     /translation="MRNRMAPENPQPDPFINRNYSNMKVIPPQDPASPSFTLLSKLECS
                     GTVSAYCSLNLPGSTDPPTSASRVAATTAIRRRHKERTSFTHQQYEELEALFSQTMFPD
                     RNLQEKLALRLDLPESTVKVWFRNRRFKLKKQQQQQSAKQRNQILPSKKNVPTSPRTSP
                     SPYAFSPVISDFYSSLPSQPLDPSNWAWNSTFTESSTSDFQMQDTQWERLVASVPALYS
                     DAYDIFQIIELYNLPDENEISSSSFHCLYQYLSPTKYQVGGQGSSLSIFAGPAVGLSPA
                     QTWPNMTSQAFEAYSLTDSLEFQKTSNMVDLGFL"
     misc_feature    480..566
                     /gene="ARGFX"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NJG6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 gcatttccag agagagacac accacgtagg actgaaaatg gttactctaa ggggattcgt
       61 gacagatttc agaaaccatg aggaacagaa tggccccaga gaatccccag ccagaccctt
      121 tcatcaatag gaattattcc aacatgaagg tgataccacc acaggatcca gctagtccca
      181 gtttcactct gttatccaag ctggagtgca gtggcacggt ctcggcttac tgcagcctca
      241 acctcccagg ttcaactgat cctcccacct cagcctcccg agtagctgcg actacagcaa
      301 tacggagaag gcataaagaa cgtacttctt tcacccacca acagtatgag gagctagaag
      361 ctctgtttag ccagaccatg ttcccagata gaaatcttca ggagaaacta gctttgagac
      421 tcgacctacc ggagtcaaca gtaaaggttt ggttcaggaa ccggcgattc aaattgaaga
      481 agcagcagca gcagcaatca gcaaagcaac gaaaccagat ccttccatcc aagaagaatg
      541 tgcccacctc ccccagaaca tcccccagtc cttatgcttt ttctcctgtg atttcagatt
      601 tctacagctc ccttccatct cagcccttag acccttccaa ttgggcatgg aactctacct
      661 tcactgagag ttctaccagt gacttccaaa tgcaagatac tcagtgggag aggctggtgg
      721 cctcggttcc tgctttgtac tctgatgcct atgacatatt ccaaatcata gaactgtaca
      781 atcttcctga tgagaatgag atatccagct cttctttcca ctgtctgtat cagtatctct
      841 cacccacaaa gtaccaggta ggaggacagg gttcctctct cagcatcttt gctggtccag
      901 ctgtaggcct atctcctgca caaacctggc ccaatatgac aagccaagcc tttgaagcct
      961 acagtctaac agatagcctg gaattccaga aaacctccaa tatggtagac ttgggatttc
     1021 tctgaccaga gtactaataa atatagatca tttagaaaag tggtcttctt gcctcttgta
     1081 catgactgtt tttttccttt gtctcatttt aacccaacat ctgggtctgt gtctctgatt
     1141 tccatgtaaa tgttgcaaaa agagttttcc aagtagagct gggcactacg taatcagccc
     1201 cacaagtctc cctgagaagc ctgcctagtc cctttcatgg ccaatgagac tccaaaattc
     1261 ccttcccaaa actatcttgg attttctaaa agtaggacag tggttttggg ggttatccac
     1321 ttttattttt ttgaaactag ctctcattct gtcacccagg ctggaataca gtggtacagt
     1381 cacggctcac aaaagccttg acctcctggg ctcaggtgat cctcccacct cagcctcctg
     1441 agtagctagg actacagatg ctcgccacca cacctggcta attttttttt tttgagactg
     1501 agtctcgcac tgtcacccag ggtggagtgc agtggcggga tctcagctca gtgcaacctc
     1561 cacctcctgg ggttcaagtg attctcctgt gtcagcctcc tgagtagctg ggattacagg
     1621 cgtgtgccac catgcctggc taacttttgt atttttagta gagacggggt ttcaccacgt
     1681 tgcccaggct ggtcttgaac tcctgacctc cagtgatccg cctgccttga cctcccaaag
     1741 tgctgggatt acagacatga gccaccgagc ctggccaatt tttgtgtttt ttgtagagac
     1801 gaggttttgc catgttgccc aggctggtct ccaactcctg gacttaacgc catccacctg
     1861 ccacagcctc ccaaagtgct aggaatacag gagtgcacca tcgcacccgg ctgggttatc
     1921 tagtttaaaa acactttttt tcaaggaaac cgaagaaacc atcatccact tttctctctg
     1981 tatcattctg attttagtat atgtgttgtg gaagtgagta cactatcatc cacttttaat
     2041 gacagaaagt tataaactta cattttgttt ccaatttttc attttttgtt tgttatttgt
     2101 tttttgtaga cagcactctg tcacccaggc tggagtgcag tggcaccatc ttggctcact
     2161 gcagcctctg cctcctgggc tcaaacagtc ctcccacctc agccttctga gtagctgaga
     2221 ctacagacat gcgccaccat gtctggctaa tttttgtatt tttagtggag atggggtttc
     2281 gccttgttgc ccaggctgaa tttgggtttt tttaaaatga gactttcagt cctaatttga
     2341 ggggaaatta ctgtcaccac tagttttaat atagtacaat gaaaaaataa tatatatata
     2401 tatagtacaa tggtccagac ataataagag gtgtaaaaac tatcacagga agaaataaaa
     2461 acagattttt gaaggtgaga tgataaactt gcaaaactca caaaataaag agtcaaactt
     2521 ttagaatgac aagttagcat attttccagc cacatgatca acctacaaaa ttaataccat
     2581 ttctgaacac cagtaataaa gaaacataag ggctgggggt ggtggctcat gcctgtaatc
     2641 ccagcacttt gggaggccga ggcgggcgga tcacgaggtc aggagattga gaccagcctg
     2701 actaacatgg tgaaatcccg tctctactaa aaatacaaaa aaaaaaaaaa aaaaaagcca
     2761 ggcatggtgg cacacacctg taatcccagc tactcgggag gctgaggaag gagaattgct
     2821 tgaacctggg aggtggaggt tgcagtgagc tgaggtcgca ccactgcact ccagcctgga
     2881 caacagagca agactctgtc tcaaaaaaaa aataaaaaat aaaaaataaa aaataaaaga
     2941 aacataagat aagtacctct caatgaaaaa tgtaaaagta cctagaaatt cacaaaaaaa
     3001 ttaatacctc tgtggagaaa acttcaaaac ttaaaaaagg acatagaaaa tgttttgaat
     3061 aggccaggcg cagtggctca cacctgtaat cccagcacgt tgggaggcca aggcgggcag
     3121 atcacgaggt caagagatca agaccatcct ggccaacatg gtgaaatcct gcctctacta
     3181 aaaatacaaa aaaaaaaaaa aattagctgg gcatggtggc acacacctgt agtcccagct
     3241 acttgggagg ctgaggcagg agaatcacaa ggattgaaac tatgcagtgt gttctccaaa
     3301 catgatggaa cgaaattaga aatcaataaa atttgggaaa ttcacaaata tgtggatatt
     3361 aaacaacaca ttcctaaata accagtggtt aaagaggtaa tcacagtctg agcaacatgg
     3421 caaaaccctg tgtctacaaa aaataaaaaa ttagctgggc atgacggcca gagcccatgg
     3481 tcccagctac tcgagaggct gaggtaagag catcccttga gccacagagg tcgaggctgc
     3541 agtgagctgt gactgtgcca ctgcactcca gcttgagcaa cacagtgata ctgtctcaat
     3601 aaataaataa atagaagaaa tcatgagtaa aattggaaaa cacttttaac tgaaaaaaac
     3661 aaaagcacaa caaaccaaaa catgggatga agctaaatca atgcttagaa ggaaatttat
     3721 agcttcaaat acttatatac atatttttta aaagtagctt tacataggaa ggaagtggca
     3781 tagttttatc aatatctgtc aaattaaact tcaaggcaaa acttttttat tgagatggag
     3841 tcttgctctg tcacccaggc cgtgcaatct cggctcactg caacctccgc ctcctgggtc
     3901 aaatgattct cctgctttag cctcccaagt agctgggact acaggtgtac gccaccacac
     3961 ccagctaatt tttgtatttt tagtagggac aggttttgcc atgttgccca ggctggcctc
     4021 aaactcctga gctcaagtga tcctcccgtc tcagcctccc aaagggctga gattacaggt
     4081 gtgagctacc tcacctggcc aaaacagttt ttttagaaat gaagtatatt agacaacaac
     4141 aaaaggaaca actaacctga aatatataat aactttgaac ttaaatatac ttaacaacat
     4201 ataccaaaaa tatatgaggc aaattttagc aaaaattaaa attcttaaga aaacttcact
     4261 aatatatagt cataatgtgg tatattcata gaacattctc aataattgat aataacagtc
     4321 caaagaaagc agaaagaagg aaagcctaga acagaaataa atgaaataga gaatagaaaa
     4381 gcaatacaga aaaaaaatta tgaaatcaaa agctggttct ttgaaaagat ctacaaaatg
     4441 gcaaacattt agctagattg accaccccct caaaagactc aaattactag aatcagaaac
     4501 aaaagtcaag attttattac caaacttata gaaataaaaa ttattagaaa gaaatactat
     4561 gaacaattga atgccaacaa attagataaa tgaaatggac aaattcctag gaagacacag
     4621 aataccaaat ctgactccac aagaaataga tgttgtgaat agagcttgct atggtatgaa
     4681 tgtgtccccc acagctcatg cgttggaaac ttaatcccca aagcaacagc tttgagaggt
     4741 gagaccttta agggttacta ggcagagccc ccatgaatgg attaatgcca ttattgtggg
     4801 agtgggttag ttatctcaga agtgggttcc tgataaaagg atgagttcgg ccttcttctt
     4861 ccccaaaatc tttatcccca cccccacctc tatctttctc tctctctctt acctcctcct
     4921 ctcccttcct tctgccatgg gaggatgaaa catgaaggcc ctggccaggt gtggcccctc
     4981 catcttccgt ctgagactgg aagacttccc agccttcaga actgtaagaa ataaatctct
     5041 cttcata
//
LOCUS       NM_001012708             899 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.
ACCESSION   NM_001012708
VERSION     NM_001012708.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 899)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 899)
  AUTHORS   Yahagi S, Shibuya K, Obayashi I, Masaki H, Kurata Y, Kudoh J and
            Shimizu N.
  TITLE     Identification of two novel clusters of ultrahigh-sulfur
            keratin-associated protein genes on human chromosome 11
  JOURNAL   Biochem Biophys Res Commun 318 (3), 655-664 (2004)
   PUBMED   15144888
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AB126072.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000399685.1/ ENSP00000382592.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB126072.1, AP006285.2 and AJ628246.1.
            On Jan 17, 2007 this sequence version replaced NM_001012708.1.
FEATURES             Location/Qualifiers
     source          1..899
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..899
                     /gene="KRTAP5-3"
                     /gene_synonym="KRTAP5-9; KRTAP5.3"
                     /note="keratin associated protein 5-3"
                     /db_xref="GeneID:387266"
                     /db_xref="HGNC:HGNC:23598"
     CDS             79..795
                     /gene="KRTAP5-3"
                     /gene_synonym="KRTAP5-9; KRTAP5.3"
                     /note="keratin-associated protein 5-9; keratin-associated
                     protein 5.3; keratin-associated protein 5.9; ultrahigh
                     sulfur keratin-associated protein 5.3"
                     /codon_start=1
                     /product="keratin-associated protein 5-3"
                     /protein_id="NP_001012726.1"
                     /db_xref="CCDS:CCDS41591.1"
                     /db_xref="GeneID:387266"
                     /db_xref="HGNC:HGNC:23598"
                     /translation="MGCSGCSGGCGSSCGGCGSSCGGCGSGYGGCGSGCCVPVCCCKPV
                     CCCVPACSCSSCGSCGGSKGVCGSCGGCKGGCGSCGGSKGGCGSSCCVPVCCSSSCGSC
                     GGSKGVCGFRGGSKGGCGSCGCSQCSCYKPCCCSSGCGSSCCQSSCCKPSCSQSSCCKP
                     CCSQSSCCKPCCCSSGCGSSCCQSSCCKPCCSQSSCCKPCCCSSGCGSSCCQSSCCKPC
                     SSQSSCCVPICCQCKI"
     misc_feature    181..771
                     /gene="KRTAP5-3"
                     /gene_synonym="KRTAP5-9; KRTAP5.3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6L8H2.1);
                     Region: 11 X 4 AA repeats of C-C-X-P"
ORIGIN
        1 gggctcagag aactccacac ctgcacacct ccctctcacc tgctcctcta cctgctccac
       61 cctcaaccca ccagaaccat gggctgctct ggctgctctg gaggctgtgg ctccagctgt
      121 gggggctgtg gctccagctg tgggggctgt ggctccggct atgggggctg tggctccggc
      181 tgctgtgtac ctgtctgctg ctgcaagccc gtgtgctgct gtgtgccagc ctgttcctgc
      241 tccagctgtg gctcctgtgg gggctccaag ggggtctgtg gctcttgtgg gggctgcaag
      301 gggggctgtg gctcctgtgg aggctccaag gggggctgtg gctccagctg ctgtgtgccc
      361 gtctgctgct cctccagctg tggctcctgt gggggttcca agggggtctg tggatttcgt
      421 gggggctcca aggggggctg cggttcttgt ggctgctccc agtgcagctg ctataagccc
      481 tgctgctgct cctcaggctg tgggtcatcc tgctgccagt ccagctgctg caagcccagc
      541 tgctcccagt ccagctgctg taagccctgc tgttcccagt ccagctgctg taagccctgc
      601 tgctgctcct caggctgtgg gtcatcctgc tgccagtcca gctgctgcaa accctgctgt
      661 tcccagtcca gctgctgtaa gccctgctgc tgctcctcag gctgtgggtc atcctgctgc
      721 cagtccagct gctgcaagcc ctgctcctcc cagtccagct gctgtgtccc aatttgctgc
      781 cagtgcaaga tctgaggctc tgcccacaaa cctcagtggg tcctacagat ccgggctctc
      841 caggaatgat tgcagctgtg tcctgaattc ctgaagcacg tctctgaatc tgtcctcct
//
LOCUS       NM_001012710            1173 bp    mRNA    linear   PRI 12-DEC-2020
DEFINITION  Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.
ACCESSION   NM_001012710
VERSION     NM_001012710.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1173)
  AUTHORS   Yahagi S, Shibuya K, Obayashi I, Masaki H, Kurata Y, Kudoh J and
            Shimizu N.
  TITLE     Identification of two novel clusters of ultrahigh-sulfur
            keratin-associated protein genes on human chromosome 11
  JOURNAL   Biochem Biophys Res Commun 318 (3), 655-664 (2004)
   PUBMED   15144888
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AB126079.1, BC137566.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000398531.3/ ENSP00000381542.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB126079.1 and AP000867.5.
            On May 17, 2019 this sequence version replaced NM_001012710.1.
FEATURES             Location/Qualifiers
     source          1..1173
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..1173
                     /gene="KRTAP5-10"
                     /gene_synonym="KRTAP5.10"
                     /note="keratin associated protein 5-10"
                     /db_xref="GeneID:387273"
                     /db_xref="HGNC:HGNC:23605"
     CDS             26..634
                     /gene="KRTAP5-10"
                     /gene_synonym="KRTAP5.10"
                     /note="keratin-associated protein 5.10; ultrahigh sulfur
                     keratin-associated protein 5.10"
                     /codon_start=1
                     /product="keratin-associated protein 5-10"
                     /protein_id="NP_001012728.1"
                     /db_xref="CCDS:CCDS41684.1"
                     /db_xref="GeneID:387273"
                     /db_xref="HGNC:HGNC:23605"
                     /translation="MGCCGCSGGCGSGCGGCGSGCGGCGSGCGGYGSGCGGCGSSCCVP
                     VCCCKPVCCCVPACSCSSCGSCGGSKGDCGSCGGSKGGCGSCGGSKGGCGSCGGSKGGC
                     GSCGGSKGGCGSCGGSKGGCGSCGGSKGGCGSCGCSQCNCCKPCCCSSGCGSCCQSSCC
                     NPCCCQSSCCVPVCCQSSCCKPCCCQSSCCVPVCCQCKI"
     misc_feature    167..610
                     /gene="KRTAP5-10"
                     /gene_synonym="KRTAP5.10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6L8G5.1);
                     Region: 7 X 4 AA repeats of C-C-X-P"
     regulatory      1150..1155
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRTAP5-10"
                     /gene_synonym="KRTAP5.10"
                     /note="hexamer: AATAAA"
     polyA_site      1173
                     /gene="KRTAP5-10"
                     /gene_synonym="KRTAP5.10"
                     /note="major polyA site"
ORIGIN
        1 gatccaccct caatctacca gaatcatggg ctgctgtggc tgctccggag gctgtggctc
       61 cggctgtggg ggttgtggct ccggctgtgg gggctgtggc tccggctgtg ggggctatgg
      121 ctctggctgt gggggctgtg gctccagctg ctgtgtgccc gtctgctgct gcaagcccgt
      181 gtgctgctgt gtgccagcct gttcctgctc cagctgtggc tcctgtgggg gctccaaggg
      241 ggactgtggc tcttgtgggg gctccaaagg gggctgtggt tcctgtgggg gctccaaggg
      301 gggctgtggc tcctgtgggg gctccaaggg gggctgtggt tcttgtgggg gctccaaggg
      361 gggctgtggc tcctgtgggg gctccaaagg tggctgtggt tcctgtgggg gctccaaggg
      421 gggctgtggt tcttgtggct gctcccagtg caattgctgt aagccctgct gctgctcctc
      481 aggctgtgga tcctgctgcc agtccagctg ctgcaatccc tgctgctgcc agtccagctg
      541 ctgtgtcccc gtgtgctgcc agtctagctg ctgcaagccc tgctgctgtc agtccagctg
      601 ctgtgtcccc gtgtgctgcc agtgtaagat ctgaggctct gaacccagac cttcaggttt
      661 cacctgtttg gtgaaagcat ttgttatgat ttccctgaat taattcatcc cacgcatcct
      721 ccctgaggca cctgcccctt ctccagctca tcatccatgc acgcacctcc ttccatggct
      781 cagctctcca ctgggccctg ccttcagcct cctcactccg gaaatgcatg tttccttgat
      841 gcaggaggtg gccttgcctg gacgcgggca cccagccaac tgccatggtg ttccctgcac
      901 ttgggtgtgg accatcttct tcttctccct cggctgactg agatgcaagg tctgacccca
      961 caaggccagg ccaatgttgc tcagtgatca ctaagaacca gcttctcaac caccattggg
     1021 accctggatc ctccagggcc gctcgctgcc tgttctccag tggccacctg tgaccaggaa
     1081 ggtctccttc cttcctgttg tctccatcta tttaaaaaca ataacaaagt aatgaatgaa
     1141 tttccttaca ataaagcctc tcatgtctgt aaa
//
LOCUS       NM_001012720            2235 bp    mRNA    linear   PRI 13-MAR-2023
DEFINITION  Homo sapiens retinal G protein coupled receptor (RGR), transcript
            variant 2, mRNA.
ACCESSION   NM_001012720
VERSION     NM_001012720.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2235)
  AUTHORS   Mermeklieva E, Kamenarova K, Mihova K, Shakola F and Kaneva R.
  TITLE     A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient
            with cone-rod dystrophy
  JOURNAL   Ophthalmic Genet 42 (6), 747-752 (2021)
   PUBMED   34229535
  REMARK    GeneRIF: A rare case of RGR/CDHR1 haplotype identified in Bulgarian
            patient with cone-rod dystrophy.
REFERENCE   2  (bases 1 to 2235)
  AUTHORS   Bao X, Zhang Z, Guo Y, Buser C, Kochounian H, Wu N, Li X, He S, Sun
            B, Ross-Cisneros FN, Sadun AA, Huang L, Zhao M and Fong HKW.
  TITLE     Human RGR Gene and Associated Features of Age-Related Macular
            Degeneration in Models of Retina-Choriocapillaris Atrophy
  JOURNAL   Am J Pathol 191 (8), 1454-1473 (2021)
   PUBMED   34022179
  REMARK    GeneRIF: Human RGR Gene and Associated Features of Age-Related
            Macular Degeneration in Models of Retina-Choriocapillaris Atrophy.
REFERENCE   3  (bases 1 to 2235)
  AUTHORS   Ba-Abbad R, Leys M, Wang X, Chakarova C, Waseem N, Carss KJ, Raymond
            FL, Bujakowska KM, Pierce EA, Mahroo OA, Mohamed MD, Holder GE,
            Hummel M, Arno G and Webster AR.
  TITLE     Clinical Features of a Retinopathy Associated With a Dominant Allele
            of the RGR Gene
  JOURNAL   Invest Ophthalmol Vis Sci 59 (12), 4812-4820 (2018)
   PUBMED   30347075
  REMARK    GeneRIF: The clinical data suggest a variable and slow degeneration
            of the RPE. A shared chromosomal segment surrounding the RGR gene
            suggests a single ancestral mutational event underlying all three
            families.
REFERENCE   4  (bases 1 to 2235)
  AUTHORS   Zhang Z and Fong HKW.
  TITLE     Coexpression of nonvisual opsin, retinal G protein-coupled receptor,
            and visual pigments in human and bovine cone photoreceptors
  JOURNAL   Mol Vis 24, 434-442 (2018)
   PUBMED   30034210
  REMARK    GeneRIF: The results indicate that the cone photoreceptors of humans
            and cattle express a nonvisual opsin of the Go/RGR or tetraopsin
            group. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2235)
  AUTHORS   Li J, Xiao X, Li S, Jia X, Guo X and Zhang Q.
  TITLE     RGR variants in different forms of retinal diseases: The
            undetermined role of truncation mutations
  JOURNAL   Mol Med Rep 14 (5), 4811-4815 (2016)
   PUBMED   27748892
  REMARK    GeneRIF: study to systemically analyze the potential role of
            variants of RGR in retinal diseases results of the suggested that
            the heterozygous truncation variants in RGR were less likely to be
            pathogenic
REFERENCE   6  (bases 1 to 2235)
  AUTHORS   Morimura,H., Saindelle-Ribeaudeau,F., Berson,E.L. and Dryja,T.P.
  TITLE     Mutations in RGR, encoding a light-sensitive opsin homologue, in
            patients with retinitis pigmentosa
  JOURNAL   Nat Genet 23 (4), 393-394 (1999)
   PUBMED   10581022
REFERENCE   7  (bases 1 to 2235)
  AUTHORS   Chen XN, Korenberg JR, Jiang M, Shen D and Fong HK.
  TITLE     Localization of the human RGR opsin gene to chromosome 10q23
  JOURNAL   Hum Genet 97 (6), 720-722 (1996)
   PUBMED   8641686
REFERENCE   8  (bases 1 to 2235)
  AUTHORS   Jiang M, Shen D, Tao L, Pandey S, Heller K and Fong HK.
  TITLE     Alternative splicing in human retinal mRNA transcripts of an
            opsin-related protein
  JOURNAL   Exp Eye Res 60 (4), 401-406 (1995)
   PUBMED   7789419
REFERENCE   9  (bases 1 to 2235)
  AUTHORS   Shen D, Jiang M, Hao W, Tao L, Salazar M and Fong HK.
  TITLE     A human opsin-related gene that encodes a retinaldehyde-binding
            protein
  JOURNAL   Biochemistry 33 (44), 13117-13125 (1994)
   PUBMED   7947717
REFERENCE   10  (bases 1 to 2235)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.262935.1,
            SRR1803613.40360.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2154665,
            SAMEA2157437 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000652092.2/ ENSP00000498299.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U14910.1 and AC022389.9.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001012720.1.
            Summary: This gene encodes a putative retinal G-protein coupled
            receptor. The gene is a member of the opsin subfamily of the 7
            transmembrane, G-protein coupled receptor 1 family. Like other
            opsins which bind retinaldehyde, it contains a conserved lysine
            residue in the seventh transmembrane domain. The protein acts as a
            photoisomerase to catalyze the conversion of all-trans-retinal to
            11-cis-retinal. The reverse isomerization occurs with rhodopsin in
            retinal photoreceptor cells. The protein is exclusively expressed
            in tissue adjacent to retinal photoreceptor cells, the retinal
            pigment epithelium and Mueller cells. This gene may be associated
            with autosomal recessive and autosomal dominant retinitis
            pigmentosa (arRP and adRP, respectively). Alternative splicing
            results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 1,
            resulting in a shorter protein (isoform 2), compared to isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2235
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.1"
     gene            1..2235
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="retinal G protein coupled receptor"
                     /db_xref="GeneID:5995"
                     /db_xref="HGNC:HGNC:9990"
                     /db_xref="MIM:600342"
     misc_feature    24..26
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="upstream in-frame stop codon"
     CDS             39..914
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="isoform 2 is encoded by transcript variant 2;
                     RGR-opsin; RPE-retinal G protein-coupled receptor"
                     /codon_start=1
                     /product="RPE-retinal G protein-coupled receptor isoform 2"
                     /protein_id="NP_001012738.1"
                     /db_xref="CCDS:CCDS91288.1"
                     /db_xref="GeneID:5995"
                     /db_xref="HGNC:HGNC:9990"
                     /db_xref="MIM:600342"
                     /translation="MAETSALPTGFGELEVLAVGMVLLVEALSGLSLNTLTIFSFCKTP
                     ELRTPCHLLVLSLALADSGISLNALVAATSSLLRRWPYGSDGCQAHGFQGFVTALASIC
                     SSAAIAWGRYHHYCTRSQLAWNSAVSLVLFVWLSSAFWAALPLLGWGHYDYEPLGTCCT
                     LDYSKGDRNFTSFLFTMSFFNFAMPLFITITSYSLMEQKLGKSGHLQVNTTLPARTLLL
                     GWGPYAILYLYAVIADVTSISPKLQMVPALIAKMVPTINAINYALGNEMVCRGIWQCLS
                     PQKREKDRTK"
     misc_feature    84..146
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="propagated from UniProtKB/Swiss-Prot (P47804.1);
                     transmembrane region"
     misc_feature    195..257
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="propagated from UniProtKB/Swiss-Prot (P47804.1);
                     transmembrane region"
     misc_feature    312..374
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="propagated from UniProtKB/Swiss-Prot (P47804.1);
                     transmembrane region"
     misc_feature    429..491
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="propagated from UniProtKB/Swiss-Prot (P47804.1);
                     transmembrane region"
     misc_feature    552..554
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P47804.1); glycosylation site"
     misc_feature    564..626
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="propagated from UniProtKB/Swiss-Prot (P47804.1);
                     transmembrane region"
     misc_feature    696..758
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="propagated from UniProtKB/Swiss-Prot (P47804.1);
                     transmembrane region"
     misc_feature    780..842
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="propagated from UniProtKB/Swiss-Prot (P47804.1);
                     transmembrane region"
     polyA_site      1414
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="major polyA site"
     regulatory      1438..1443
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="hexamer: AATAAT"
     polyA_site      1461
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="major polyA site"
     regulatory      1845..1850
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="hexamer: AATAAT"
     polyA_site      1870
                     /gene="RGR"
                     /gene_synonym="RP44"
     regulatory      2076..2081
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RGR"
                     /gene_synonym="RP44"
                     /note="hexamer: AATATA"
     polyA_site      2095
                     /gene="RGR"
                     /gene_synonym="RP44"
ORIGIN
        1 agagacagct gggccactgg cagtgaggga gagtgaggat ggcagagacc agtgccctgc
       61 ccactggctt cggggagctc gaggtgctgg ctgtggggat ggtgctactg gtggaagctc
      121 tctccggtct cagcctcaat accctgacca tcttctcttt ctgcaagacc ccggagctgc
      181 ggactccctg ccacctactg gtgctgagct tggctcttgc ggacagtggg atcagcctga
      241 atgccctcgt tgcagccaca tccagccttc tccggcgctg gccctacggc tcggacggct
      301 gccaggctca cggcttccag ggctttgtga cagcgttggc cagcatctgc agcagtgcag
      361 ccatcgcatg ggggcgttat caccactact gcacccgtag ccagctggcc tggaactcag
      421 ccgtctctct ggtgctcttc gtgtggctgt cttctgcctt ctgggcagct ctgccccttc
      481 tgggttgggg tcactacgac tatgagccac tggggacatg ctgcaccctg gactactcca
      541 agggggacag aaacttcacc agcttcctct tcaccatgtc cttcttcaac ttcgccatgc
      601 ccctcttcat cacgatcact tcctacagtc tcatggagca gaaactgggg aagagtggcc
      661 atctccaggt aaacaccact ctgccagcaa ggacgctgct gctcggctgg ggcccctatg
      721 ccatcctgta tctatacgca gtcatcgcag acgtgacttc catctccccc aaactgcaga
      781 tggtgcccgc cctcattgcc aaaatggtgc ccacgatcaa tgccatcaac tatgccctgg
      841 gcaatgagat ggtctgcagg ggaatctggc agtgcctctc accgcagaag agggagaagg
      901 accgaaccaa gtgagcctgc caccctggag tgagccccag gccaggaggc tgttccagga
      961 gtcctgccca gcagcctcag tggccaagcc cagacactca cccaccttcc ccagtggccc
     1021 cgtggatcct ggtcctaggc tggacacagg attcagaaag acaccaggct gcacagaaag
     1081 agccagatgg acctgagtgt cggtcacagc cccctacact caaggctgag aggcctcagg
     1141 aaagtcattc ctttttaaaa ataataataa atgtaagggg gtacagtgca gttttgttac
     1201 atggatagat tgcctagtgg tgaagtctgg gcttttagtg taaccatcac cctaataata
     1261 tacgttgtac ccattaagtt atttctcatc cctcaccccc tcccaccttg tcacccttct
     1321 gagtctccaa tgtctattat tccacactcc atgtccacgt gtacacatta tttagctccc
     1381 acttacaagt gagaacatgt ggtatttgac tttctgtttt tgagttattt cacttaaaat
     1441 aatgacctcc agtttcatcc atgttgctgc aaaagacatg atctcgttct tttttatggc
     1501 agtgtagtat tccattccat atacatatat aaacgttata tatatgtaac gttttcttta
     1561 tccaatcatc tgttgatgga tagattccat atctttgcta ctgtaaacag ctgtgataag
     1621 catacaagtg caggtttctt tttgatatac tgatttcttt tcctttgggt agataccagt
     1681 agtaggactg ctggatcaaa tggtagctct atttttaaga cagtatggag aaatcaccat
     1741 actgttttcc ataggggttg tactaattta cagtcccacc aacagtgtat aggtgttccc
     1801 ttttctctgc atccttacca atatctgtaa ttttttgact ttttaataat agccattctc
     1861 acttgtgtga gataaggtct cattgtggtt ttaatttcca tttctctgat gacttttgat
     1921 gttaagcatt ttttcatatg cttcttagcc acgtgtatgt attctttttg aaaaaatgtt
     1981 tattcatgtc ttttgcccac tttttaatgg cattatttgg attttttttg ttgagttatt
     2041 tgagtttctt atatattctg gataatagtc tggataatat attctggata atatataata
     2101 gtcttatata ttctggatat attctggata catggtttgc aaatattttc tccggttctg
     2161 cacgttgttc attctgttga tggtttattt tgctgtgcag aaactttttt agtttaatta
     2221 agtcccattt gtcta
//
LOCUS       NM_001012728             710 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens divergent-paired related homeobox (DPRX), mRNA.
ACCESSION   NM_001012728
VERSION     NM_001012728.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 710)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S, Das
            PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A, Ginno
            PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of human
            transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   2  (bases 1 to 710)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   3  (bases 1 to 710)
  AUTHORS   Booth HA and Holland PW.
  TITLE     Annotation, nomenclature and evolution of four novel homeobox genes
            expressed in the human germ line
  JOURNAL   Gene 387 (1-2), 7-14 (2007)
   PUBMED   17005330
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: LN651088.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142853,
            SAMEA2149398 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000376650.2/ ENSP00000365838.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. This record has been curated by NCBI staff in
            collaboration with Anne Booth and Peter Holland. The reference
            sequence was derived from AC011487.5.
            On Aug 13, 2021 this sequence version replaced NM_001012728.1.
            Summary: Homeobox genes encode DNA-binding proteins, many of which
            are thought to be involved in early embryonic development. Homeobox
            genes encode a DNA-binding domain of 60 to 63 amino acids referred
            to as the homeodomain. This gene is a member of the DPRX homeobox
            gene family. Evidence of mRNA expression has not yet been found for
            this gene. Multiple, related processed pseudogenes have been found
            which are thought to reflect expression of this gene in the germ
            line or embryonic cells. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..710
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..710
                     /gene="DPRX"
                     /note="divergent-paired related homeobox"
                     /db_xref="GeneID:503834"
                     /db_xref="HGNC:HGNC:32166"
                     /db_xref="MIM:611165"
     misc_feature    103..105
                     /gene="DPRX"
                     /note="upstream in-frame stop codon"
     CDS             109..684
                     /gene="DPRX"
                     /codon_start=1
                     /product="divergent paired-related homeobox"
                     /protein_id="NP_001012746.1"
                     /db_xref="CCDS:CCDS33103.1"
                     /db_xref="GeneID:503834"
                     /db_xref="HGNC:HGNC:32166"
                     /db_xref="MIM:611165"
                     /translation="MPGSEDLRKGKDQMHSHRKRTMFTKKQLEDLNILFNENPYPNPSL
                     QKEMASKIDIHPTVLQVWFKNHRAKLKKAKCKHIHQKQETPQPPIPEGGVSTSVGLRNA
                     DTLPRLPNAAHPIGLVYTGHRVPSFQLILYPNLKVPANDFIGHRIVHFGCCRDPNIYCL
                     YPILESQVCAPSFHSGSPACSSNQSRER"
     misc_feature    109..168
                     /gene="DPRX"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NFQ7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      687..692
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPRX"
                     /note="hexamer: AATACA"
     polyA_site      710
                     /gene="DPRX"
                     /note="major polyA site"
ORIGIN
        1 ggaggtggga gtcgggtgtg gctgtggagg aagctactta aatccggatt tgatctttgc
       61 tagttcttat ccctggacct gaacccaggc gcacatctgg attagaagat gccaggctca
      121 gaggatcttc gtaaaggcaa ggaccagatg cattcacaca ggaaacgaac catgttcact
      181 aagaagcaac tggaagatct gaacatcttg ttcaatgaga acccataccc aaaccccagc
      241 cttcagaaag aaatggcctc gaaaatagac atacacccaa cagtactgca ggtctggttc
      301 aagaatcaca gagcaaaact caagaaagcg aaatgcaagc atattcatca aaaacaagaa
      361 actccacaac cgccaatacc agagggtggg gtctccacca gtgtcggcct gagaaatgca
      421 gacacactac ccagattgcc caacgctgct cacccgatcg gcctggtgta cacgggtcat
      481 cgagtcccct cattccagct catcctgtac cccaacctca aggtccctgc aaatgacttc
      541 attggccaca gaatagtcca ttttggctgc tgccgagatc ctaatatata ctgcctctac
      601 cccattttgg aatcccaagt ttgcgctcca agcttccatt ctggctctcc tgcctgttca
      661 tctaaccaaa gtcgagagag atgataaata caaaaagtca catgttgtaa
//
LOCUS       NM_001012729            1048 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens double homeobox A (DUXA), mRNA.
ACCESSION   NM_001012729
VERSION     NM_001012729.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1048)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S, Das
            PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A, Ginno
            PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of human
            transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   2  (bases 1 to 1048)
  AUTHORS   Dolmans GH, Werker PM, Hennies HC, Furniss D, Festen EA, Franke L,
            Becker K, van der Vlies P, Wolffenbuttel BH, Tinschert S, Toliat MR,
            Nothnagel M, Franke A, Klopp N, Wichmann HE, Nurnberg P, Giele H,
            Ophoff RA and Wijmenga C.
  CONSRTM   Dutch Dupuytren Study Group; German Dupuytren Study Group; LifeLines
            Cohort Study; BSSH-GODD Consortium
  TITLE     Wnt signaling and Dupuytren's disease
  JOURNAL   N Engl J Med 365 (4), 307-317 (2011)
   PUBMED   21732829
REFERENCE   3  (bases 1 to 1048)
  AUTHORS   Booth HA and Holland PW.
  TITLE     Annotation, nomenclature and evolution of four novel homeobox genes
            expressed in the human germ line
  JOURNAL   Gene 387 (1-2), 7-14 (2007)
   PUBMED   17005330
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: LN651089.1, SRR5189667.163686.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467147
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000554048.3/ ENSP00000452398.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Anne Booth and Peter Holland. The reference
            sequence was derived from AC025588.1.
            On Jun 28, 2019 this sequence version replaced NM_001012729.1.
            Summary: Homeobox genes encode DNA-binding proteins, many of which
            are thought to be involved in early embryonic development. Homeobox
            genes encode a DNA-binding domain of 60 to 63 amino acids referred
            to as the homeodomain. This gene is a member of the DUXA homeobox
            gene family. Evidence of mRNA expression has not yet been found for
            this gene. Multiple, related processed pseudogenes have been found
            which are thought to reflect expression of this gene in the germ
            line or embryonic cells. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1048
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     gene            1..1048
                     /gene="DUXA"
                     /note="double homeobox A"
                     /db_xref="GeneID:503835"
                     /db_xref="HGNC:HGNC:32179"
                     /db_xref="MIM:611168"
     CDS             43..657
                     /gene="DUXA"
                     /codon_start=1
                     /product="double homeobox protein A"
                     /protein_id="NP_001012747.1"
                     /db_xref="CCDS:CCDS33126.1"
                     /db_xref="GeneID:503835"
                     /db_xref="HGNC:HGNC:32179"
                     /db_xref="MIM:611168"
                     /translation="MAEDTYSHKMVKTNHRRCRTKFTEEQLKILINTFNQKPYPGYATK
                     QKLALEINTEESRIQIWFQNRRARHGFQKRPEAETLESSQSQGQDQPGVEFQSREARRC
                     RTTYSASQLHTLIKAFMKNPYPGIDSREELAKEIGVPESRVQIWFQNRRSRLLLQRKRE
                     PVASLEQEEQGKIPEGLQGAEDTQNGTNFTSDSHFSGARTW"
     misc_feature    259..345
                     /gene="DUXA"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NLW8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    529..654
                     /gene="DUXA"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NLW8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1021..1026
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DUXA"
                     /note="hexamer: AATAAA"
     polyA_site      1048
                     /gene="DUXA"
                     /note="major polyA site"
ORIGIN
        1 gtctcccaga cagtggctca gccttcagga ctctcttcca gcatggccga agacacctat
       61 tcacacaaga tggtaaaaac aaatcatagg cgctgtcgca caaaattcac agaagaacag
      121 ttgaaaatcc tcatcaatac cttcaatcaa aagccttacc caggttatgc taccaaacaa
      181 aaacttgctt tagaaatcaa tacagaagag tccagaatcc agatttggtt tcagaatcga
      241 agagctaggc acggattcca gaaaagacca gaagctgaga ctttagaatc aagccagagc
      301 caggggcaag atcaacctgg tgtggagttt caaagtagag aagccagacg gtgtcgtacc
      361 acctacagcg cctctcagtt acacactctc atcaaggcat ttatgaaaaa cccatatcct
      421 gggattgatt ccagagaaga acttgctaaa gaaatcggtg ttccagagtc aagagtccaa
      481 atttggttcc aaaatcgaag atctagatta cttctccaga gaaaaaggga acctgtggcg
      541 tccttagaac aagaagagca gggcaagatt cctgagggac tgcaaggtgc agaagataca
      601 caaaatggca ccaacttcac tagtgactct catttctctg gagccagaac gtggtgaaca
      661 cagtcaaatt cagtgtactt gataatatca actggacccc aaatctgtct cacggtcttc
      721 ctgggagtct atccttctgc tgaaactgca agctaagcct tctgaagatg gtaaaggact
      781 tggccagatg tggtgggtca cacttgtaat cccactactt tgggaggcca aggcaggaag
      841 attgcttgag ctcaggagtt tgaaaccagc ctggacaaca tatagcaaga ctctgcctct
      901 attataaaaa aacaaaataa atgaaaagga ctgtaggagg cagagacggg tacagggggt
      961 accacactac cctgttgaca cagcctagat ccagagttca gaagaccttg agacaatgaa
     1021 aataaacttg gtaataatct tttttcaa
//
LOCUS       NM_001012750            3515 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens abl interactor 1 (ABI1), transcript variant 2, mRNA.
ACCESSION   NM_001012750
VERSION     NM_001012750.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3515)
  AUTHORS   Regua A, Papp C, Grageda A, Porter BA, Caza T, Bichindaritz I,
            Krendel M, Sivapiragasam A, Bratslavsky G, Kuznetsov VA and Kotula
            L.
  TITLE     ABI1-based expression signature predicts breast cancer metastasis
            and survival
  JOURNAL   Mol Oncol 16 (14), 2632-2657 (2022)
   PUBMED   34967509
  REMARK    GeneRIF: ABI1-based expression signature predicts breast cancer
            metastasis and survival.
REFERENCE   2  (bases 1 to 3515)
  AUTHORS   Wang Y, Liao G, Wang R and Tang DD.
  TITLE     Acetylation of Abelson interactor 1 at K416 regulates actin
            cytoskeleton and smooth muscle contraction
  JOURNAL   FASEB J 35 (9), e21811 (2021)
   PUBMED   34369620
  REMARK    GeneRIF: Acetylation of Abelson interactor 1 at K416 regulates actin
            cytoskeleton and smooth muscle contraction.
REFERENCE   3  (bases 1 to 3515)
  AUTHORS   Zhang Y, Zhong Z, Li M, Chen J, Lin T, Sun J, Wang D, Mu Q, Su H, Wu
            N, Liu A, Yu Y, Zhang M, Liu Y, Guo J and Yu W.
  TITLE     The roles and prognostic significance of ABI1-TSV-11 expression in
            patients with left-sided colorectal cancer
  JOURNAL   Sci Rep 11 (1), 10734 (2021)
   PUBMED   34031495
  REMARK    GeneRIF: The roles and prognostic significance of ABI1-TSV-11
            expression in patients with left-sided colorectal cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3515)
  AUTHORS   Li Y, Guo X, Xue G, Wang H, Wang Y, Wang W, Yang S, Ni Q, Chen J, Lv
            L, Zhao Y, Ye M and Zhang L.
  TITLE     RNA Splicing of the Abi1 Gene by MBNL1 contributes to
            macrophage-like phenotype modulation of vascular smooth muscle cell
            during atherogenesis
  JOURNAL   Cell Prolif 54 (5), e13023 (2021)
   PUBMED   33759281
  REMARK    GeneRIF: RNA Splicing of the Abi1 Gene by MBNL1 contributes to
            macrophage-like phenotype modulation of vascular smooth muscle cell
            during atherogenesis.
REFERENCE   5  (bases 1 to 3515)
  AUTHORS   Fan PD and Goff SP.
  TITLE     Abl interactor 1 binds to sos and inhibits epidermal growth factor-
            and v-Abl-induced activation of extracellular signal-regulated
            kinases
  JOURNAL   Mol Cell Biol 20 (20), 7591-7601 (2000)
   PUBMED   11003655
REFERENCE   6  (bases 1 to 3515)
  AUTHORS   Courtney KD, Grove M, Vandongen H, Vandongen A, LaMantia AS and
            Pendergast AM.
  TITLE     Localization and phosphorylation of Abl-interactor proteins, Abi-1
            and Abi-2, in the developing nervous system
  JOURNAL   Mol Cell Neurosci 16 (3), 244-257 (2000)
   PUBMED   10995551
REFERENCE   7  (bases 1 to 3515)
  AUTHORS   Scita G, Nordstrom J, Carbone R, Tenca P, Giardina G, Gutkind S,
            Bjarnegard M, Betsholtz C and Di Fiore PP.
  TITLE     EPS8 and E3B1 transduce signals from Ras to Rac
  JOURNAL   Nature 401 (6750), 290-293 (1999)
   PUBMED   10499589
REFERENCE   8  (bases 1 to 3515)
  AUTHORS   Taki T, Shibuya N, Taniwaki M, Hanada R, Morishita K, Bessho F,
            Yanagisawa M and Hayashi Y.
  TITLE     ABI-1, a human homolog to mouse Abl-interactor 1, fuses the MLL gene
            in acute myeloid leukemia with t(10;11)(p11.2;q23)
  JOURNAL   Blood 92 (4), 1125-1130 (1998)
   PUBMED   9694699
REFERENCE   9  (bases 1 to 3515)
  AUTHORS   Ziemnicka-Kotula D, Xu J, Gu H, Potempska A, Kim KS, Jenkins EC,
            Trenkner E and Kotula L.
  TITLE     Identification of a candidate human spectrin Src homology 3
            domain-binding protein suggests a general mechanism of association
            of tyrosine kinases with the spectrin-based membrane skeleton
  JOURNAL   J Biol Chem 273 (22), 13681-13692 (1998)
   PUBMED   9593709
REFERENCE   10  (bases 1 to 3515)
  AUTHORS   Biesova Z, Piccoli C and Wong WT.
  TITLE     Isolation and characterization of e3B1, an eps8 binding protein that
            regulates cell growth
  JOURNAL   Oncogene 14 (2), 233-241 (1997)
   PUBMED   9010225
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.172050.1,
            SRR14038194.2918741.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000376140.4/ ENSP00000365310.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB040151.1, AF006516.1 and
            AL390961.17.
            This sequence is a reference standard in the RefSeqGene project.
            On May 21, 2020 this sequence version replaced NM_001012750.2.
            Summary: This gene encodes a member of the Abelson-interactor
            family of adaptor proteins. These proteins facilitate signal
            transduction as components of several multiprotein complexes, and
            regulate actin polymerization and cytoskeletal remodeling through
            interactions with Abelson tyrosine kinases. The encoded protein
            plays a role in macropinocytosis as a component of the WAVE2
            complex, and also forms a complex with EPS8 and SOS1 that mediates
            signal transduction from Ras to Rac. This gene may play a role in
            the progression of several malignancies including melanoma, colon
            cancer and breast cancer, and a t(10;11) chromosomal translocation
            involving this gene and the MLL gene has been associated with acute
            myeloid leukemia. Alternatively spliced transcript variants
            encoding multiple isoforms have been observed for this gene, and a
            pseudogene of this gene is located on the long arm of chromosome
            14. [provided by RefSeq, Sep 2011].
            Transcript Variant: This variant (2) lacks an alternate in-frame
            coding exon, compared to variant 1. The resulting protein (isoform
            b) has the same N- and C-termini but is shorter compared to isoform
            a.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3515
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.1"
     gene            1..3515
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="abl interactor 1"
                     /db_xref="GeneID:10006"
                     /db_xref="HGNC:HGNC:11320"
                     /db_xref="MIM:603050"
     misc_feature    18..20
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="upstream in-frame stop codon"
     CDS             96..1541
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="isoform b is encoded by transcript variant 2; nap1
                     binding protein; interactor protein AblBP4; Abl-interactor
                     protein 1 long; Abelson interactor 1; abl-binding protein
                     4; eps8 SH3 domain-binding protein; spectrin SH3
                     domain-binding protein 1"
                     /codon_start=1
                     /product="abl interactor 1 isoform b"
                     /protein_id="NP_001012768.1"
                     /db_xref="CCDS:CCDS31171.1"
                     /db_xref="GeneID:10006"
                     /db_xref="HGNC:HGNC:11320"
                     /db_xref="MIM:603050"
                     /translation="MAELQMLLEEEIPSGKRALIESYQNLTRVADYCENNYIQATDKRK
                     ALEETKAYTTQSLASVAYQINALANNVLQLLDIQASQLRRMESSINHISQTVDIHKEKV
                     ARREIGILTTNKNTSRTHKIIAPANMERPVRYIRKPIDYTVLDDVGHGVKWLKAKHGNN
                     QPARTGTLSRTNPPTQKPPSPPMSGRGTLGRNTPYKTLEPVKPPTVPNDYMTSPARLGS
                     QHSPGRTASLNQRPRTHSGSSGGSGSRENSGSSSIGIPIAVPTPSPPTIGPAAPGSAPG
                     SQYGTMTRQISRHNSTTSSTSSGGYRRTPSVTAQFSAQPHVNGGPLYSQNSISIAPPPP
                     PMPQLTPQIPLTGFVARVQENIADSPTPPPPPPPDDIPMFDDSPPPPPPPPVDYEDEEA
                     AVVQYNDPYADGDPAWAPKNYIEKVVAIYDYTKDKDDELSFMEGAIIYVIKKNDDGWYE
                     GVCNRVTGLFPGNYVESIMHYTD"
     regulatory      3011..3016
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="hexamer: ATTAAA"
     polyA_site      3035
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="major polyA site"
     regulatory      3196..3201
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="hexamer: AATAAA"
     polyA_site      3219
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="major polyA site"
     regulatory      3236..3241
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="hexamer: AATATA"
     polyA_site      3258
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
     regulatory      3499..3504
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="hexamer: AATAAA"
     polyA_site      3515
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
ORIGIN
        1 ggtttgtatc cgggctgtga ggtgctcgga gcctcggcgg accttgctgc ctctgtctct
       61 ttaacgcgag aggaagcgat gcagaggggt ggaaaatggc agagctgcag atgttactag
      121 aggaggagat cccgtctggc aagagggcgc tgatcgagag ttaccagaac ctgactcggg
      181 tggcagacta ctgtgaaaac aactacatac aggctacaga caagagaaaa gctttagagg
      241 agaccaaagc ctatacaacc caatctctag ctagtgttgc ttatcaaata aatgcattgg
      301 ccaacaatgt actccagttg ctggatatcc aagcctctca gcttcggaga atggagtctt
      361 ccatcaatca tatctcacag actgtggata ttcataagga gaaagtggca cgaagagaga
      421 ttggtatttt gacaacaaat aagaatacat caagaactca caaaataata gcacctgcga
      481 atatggagcg ccctgtaagg tatattcgga aacctatcga ttacacagtt ctggatgatg
      541 tgggccatgg tgtcaagtgg ctaaaagcca agcatggaaa taaccagcct gcaagaactg
      601 gcacactgtc gagaacaaat cctcctactc agaaaccgcc aagtcctccc atgtcaggcc
      661 ggggaacact gggacggaat actccttata aaaccctgga acctgttaaa cccccaacag
      721 ttcctaatga ctatatgacc agtcctgcta ggcttggaag tcagcatagt ccaggcagga
      781 cagcatcttt aaatcagaga ccaaggacac acagtggaag tagtggagga agtggaagtc
      841 gagaaaacag tggtagcagt agtattggca ttcccattgc tgtgcctaca ccttcgccac
      901 ccactattgg accagcagcc ccgggctcag ctcctggttc ccagtatggc acaatgacca
      961 ggcagatatc tcgacacaac tctactactt cttcgacatc ttctggtgga tacagacgaa
     1021 ctccctctgt gactgctcaa ttttctgctc agcctcatgt taatggaggt ccactttatt
     1081 ctcaaaattc aatttctatt gctccacccc ctccccctat gcctcagttg actccacaga
     1141 tacctctcac aggcttcgtg gccagggtgc aggaaaacat tgctgatagt ccaactccac
     1201 cgccaccacc tccaccagat gacattccca tgtttgatga ctctccacct cccccaccac
     1261 caccaccagt ggattatgaa gatgaggagg ctgcagtagt tcagtataat gatccatatg
     1321 cagatgggga tcctgcttgg gcccccaaga attatattga gaaagttgtt gcaatatatg
     1381 attatacaaa agacaaggat gatgagctgt catttatgga gggtgcaatc atttatgtta
     1441 taaagaagaa tgatgatggc tggtatgaag gagtctgcaa tcgagtgact ggtctgttcc
     1501 ctgggaacta tgttgaatca atcatgcact atactgatta attttttttt ttcttttgaa
     1561 gtagattctt attactcagt catactgtgg gactattatg gttaacagaa ctgtcttaat
     1621 atgttttaaa atgtgcccat attttcagaa catgctgttt tattggtaaa ttgaatgtct
     1681 acctgtaagc ataaatcttt gaggcagttt atgtattgct gaatagcaat ttatacaaga
     1741 agctgtccat aactgattat gcttatgtac ttacttacac atttttaact ttatgaccag
     1801 cctaaatatt ctgggggaag tggggtataa tatttaacga atcatgattc agattgtacc
     1861 attacatgtt tcagtgcagc atggttacta acgctatgtc agactaatat taaaatcaga
     1921 aaatttaaat gctggtgctg gtcagacttt ttttgttaga ttctctcatt taaaaaaaat
     1981 actgtttgtt taaagcatgc ataaaaattt atgtattgaa atatacttaa aaattcaaga
     2041 tgcttcccat ttgtgtaata tttacctgga ggactcgtac ttaggtgtct taacgtgaat
     2101 tgagtctcca aggtctccat gtgaaacaag caaaaagaga attatctgta atgttgtaat
     2161 ttgtacctaa gttttttaat gagtgaaatt tgcattataa actttttcca ttcataaata
     2221 cataagtgaa ccaaaggttt ttgtcctttc cttcactgat ttgctttaaa aaaaataaaa
     2281 gataatgatt tattgcagaa ttatgattct attttctcaa tatgttaact tggaaaaaaa
     2341 ttttagcctt atcttaatct gtcccaacag caatgtgacg gatttttgca gattcaaaat
     2401 ctgcaatggt tatttacaag tcaatctact gaattccttt tttaaataat cttttgaaac
     2461 taagaaaatg tgtcaaattg tgtgcattca ttctgtaggt aaaattctta aggattgcca
     2521 tgtcagtcct tcagttgtac agtgaactgt tgtacactgg ttcaatgaaa ggaagttaaa
     2581 agtacctttt acatattgta aaagtggata cagttgattt gtgagtaggc actctttaat
     2641 ccattacctg gcactagcaa cattagaatt ttaaaataaa ataattggga aagaaggtgg
     2701 gtcatgtatt aatcagtgaa cagagattta cctaaccaac agacttggat tgtcttttga
     2761 cataatcaaa atgcaacaca tgcactttgt gtgtctcctc ttaattgaag ggagggctga
     2821 gggatgtttt ctcttcttgt cttgtgtata attctctatt gcttaggata ttaaagtaga
     2881 gcactcaagt gtgggtttct gtgttattga ggatttgttt ggaattcaaa ttacagttat
     2941 gtactggatg ctacagactt ataacagcat agtgaatggt aagactagtg caaaacagtt
     3001 atttctgaaa attaaagacc attattgcta ccaaatcaat gtgactattt catatgcatt
     3061 ttgcctttgt taattttaaa caaacaaagt atcattagtg atcagctagc taccttctac
     3121 tttccatttt tcaagtggat tgttctctta atttgtatat aacctgttgt ctaaatttta
     3181 tgtacagtct tttataataa accattctcc tatatgaaat tttggatact gttaaaatat
     3241 aactcatgtg gacttcaatg cagacttcac atttttctga cctttactcc tacggtaaat
     3301 caagacaaac catttgaatt ttaacattgg ttatttattt gtgtaatggc cttacatgtg
     3361 gatattaaca gtgtaaacaa taccacatat aaccatcaag ataccttgat tataatttat
     3421 aggactagaa tgacagattc aggtggttta ttaattacat ttaaaaagtt ttctgaaaaa
     3481 acttttgcaa taaaaaaaaa taaattgccc atcaa
//
LOCUS       NM_001012754            3411 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens NHL repeat containing 3 (NHLRC3), transcript variant 1,
            mRNA.
ACCESSION   NM_001012754
VERSION     NM_001012754.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3411)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX648122.1, SRR1803613.60954.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379600.8/ ENSP00000368920.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC140877.1, AL445590.4 and
            CR749318.1.
            On Nov 22, 2018 this sequence version replaced NM_001012754.3.
            Summary: This gene encodes a protein containing NCL-1, HT2A and
            Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing
            proteins may be involved in a variety of enzymatic processes,
            including protein modification through ubiquitination.
            Alternatively spliced transcript variants have been observed for
            this gene. [provided by RefSeq, Aug 2012].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3411
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.3"
     gene            1..3411
                     /gene="NHLRC3"
                     /note="NHL repeat containing 3"
                     /db_xref="GeneID:387921"
                     /db_xref="HGNC:HGNC:33751"
     CDS             185..1228
                     /gene="NHLRC3"
                     /note="isoform a precursor is encoded by transcript variant
                     1; NHL repeat-containing protein 3"
                     /codon_start=1
                     /product="NHL repeat-containing protein 3 isoform a
                     precursor"
                     /protein_id="NP_001012772.1"
                     /db_xref="CCDS:CCDS31961.1"
                     /db_xref="GeneID:387921"
                     /db_xref="HGNC:HGNC:33751"
                     /translation="MARFWVCVAGAGFFLAFLVLHSRFCGSPVLRNFTFAVSWRTEKIL
                     YRLDVGWPKHPEYFTGTTFCVAVDSLNGLVYIGQRGDNIPKILVFTEDGYFLRAWNYTV
                     DTPHGIFAASTLYEQSVWITDVGSGFFGHTVKKYSSFGDLVQVLGTPGKKGTSLNPLQF
                     DNPAELYVEDTGDIYIVDGDGGLNNRLIKLSQDFMILWLHGENGTGPAKFNIPHSVTLD
                     SAGRVWVADRGNKRIQVFDKDTGEWLGAWNNCFTEEGPSSVRFTPDGKYLIVAQLNLSR
                     LSVVAAPPVGSIGECSVISTIQLADQVLPHLLEVDRKTGAVYVAEIGAKQVQKYVPLNS
                     YVPSFGS"
     sig_peptide     185..259
                     /gene="NHLRC3"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5JS37.1)"
     mat_peptide     260..1225
                     /gene="NHLRC3"
                     /product="NHL repeat-containing protein 3.
                     /id=PRO_0000317194"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JS37.1)"
     misc_feature    278..280
                     /gene="NHLRC3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5JS37.1); glycosylation site"
     misc_feature    323..463
                     /gene="NHLRC3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JS37.1);
                     Region: NHL 1"
     misc_feature    485..487
                     /gene="NHLRC3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5JS37.1); glycosylation site"
     misc_feature    632..772
                     /gene="NHLRC3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JS37.1);
                     Region: NHL 2"
     misc_feature    782..913
                     /gene="NHLRC3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JS37.1);
                     Region: NHL 3"
     misc_feature    800..802
                     /gene="NHLRC3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5JS37.1); glycosylation site"
     misc_feature    1016..1018
                     /gene="NHLRC3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5JS37.1); glycosylation site"
     misc_feature    1064..1198
                     /gene="NHLRC3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JS37.1);
                     Region: NHL 4"
     regulatory      1325..1330
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NHLRC3"
                     /note="hexamer: TATAAA"
     polyA_site      1347
                     /gene="NHLRC3"
                     /note="major polyA site"
     regulatory      3341..3346
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NHLRC3"
                     /note="hexamer: ATTAAA"
     polyA_site      3366
                     /gene="NHLRC3"
     regulatory      3384..3389
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NHLRC3"
                     /note="hexamer: ATTAAA"
     polyA_site      3411
                     /gene="NHLRC3"
                     /note="major polyA site"
ORIGIN
        1 attcgccctg gtctctgttc cctttcgtac tcaaagctcg tgcatccagg gaggggaaac
       61 cggagatagg gtcttcgggc cccgggcaga ccctctgtgc cgctgcaaac cgttgcagcc
      121 tgaggctgtc aggtcctccc ccagacacct gcggaccctc cctctcctgg cttcccgtct
      181 ggtcatggcg agattctggg tctgcgtagc cggtgctggc ttctttcttg catttttggt
      241 tttgcattcg cgtttttgtg gctctccagt tttgaggaac tttacttttg cagtttcctg
      301 gagaactgag aaaattcttt accggctgga tgtgggttgg cctaagcacc cagaatattt
      361 taccggaaca acattttgtg ttgcagttga ctccctcaat ggattggttt acataggtca
      421 aagaggggat aacatcccaa agatattagt gttcacagag gatggatatt tcctacgagc
      481 ctggaattat acagttgaca cacctcatgg tatatttgca gccagtactc tatatgaaca
      541 atccgtctgg atcacggatg taggaagtgg attctttggt catactgtta aaaaatacag
      601 ttcttttggt gatcttgttc aagtcttggg tactccaggc aaaaaaggca ctagtttgaa
      661 tcctttgcag tttgataacc cagcagaatt atatgtagag gacacaggag atatttacat
      721 tgtggatgga gatggaggat tgaataacag attgatcaaa ctgtcccaag atttcatgat
      781 cctttggctg catggagaaa atgggacagg gcctgctaag ttcaacatac ctcacagtgt
      841 tacacttgat tcagctggtc gggtgtgggt tgctgaccga ggaaataaaa gaatccaagt
      901 atttgataaa gacactgggg agtggttagg agcatggaat aattgtttca cagaagaggg
      961 accttcttca gtcaggttta ctcctgatgg gaagtacttg attgtggccc agctgaatct
     1021 tagcaggctc tcagtcgtag cagcaccccc agtgggaagc attggggagt gttctgtgat
     1081 cagcacaatc caactagcag atcaagtttt gccacatctc ctagaagtcg acagaaagac
     1141 tggagcagtc tatgtagcag aaattggagc aaaacaagta caaaaatatg tccctttgaa
     1201 tagctatgtt ccttcatttg gttcataatg tttctttcct gggaatattt caagtggcag
     1261 ttcagattct caattcacta agtgcttaaa aatgatgttc aagcacaaga atttattttt
     1321 ctagtataaa agatctagta tcagaaagat ttgtttttgt atcattaaga atcttatatt
     1381 ttgttgccct cttgggactt agttttattt gtaagtgcat aaggatattt taatgaaagg
     1441 aaagtaacta aaaaatgggg ttgggaagag ggactaaggt ggtaacctca ttatttgccc
     1501 tggtagactg attctccctg ggtaaaaaaa atgggaataa aaatgagctt gcatgataat
     1561 ttattaaatt tcatgtgaag aactccagac ctccagattg tgcaactaac ataaaatgag
     1621 ctgcttgaga gattgtaaat aagatgaact attgattaat ttgagtaccc acagagtgct
     1681 gtgtcttgac gacttaaaaa tgaaaaagca ggattgcctt ttgagtagct tgcagtctag
     1741 tggggagaca agcaggcaaa cagtcacaac acagcaaaag cgaccttgga gcatagtggg
     1801 acttttggag taggagtgct gcatttgact gagggaatca tggatacttc gcaggagaag
     1861 tgaatttgag ctcagacttg aaaactgagg aggagcttac caagggacaa ggaggagaaa
     1921 acaataattt ccaagtaaag aaggtataaa aagttagaag tgtactgtaa actttgatag
     1981 gcttttaggc cttttttaaa gcccaacttg gcttctgtcc attacctata agatatttaa
     2041 tgtcagtcag cctttaaatg taggaataaa atggctggca tctaagcact ttagtaaaag
     2101 aggtttttac aaataactaa ggattgtaga gcttccttct cttttttttt ctttttcttt
     2161 cttttgtttt acatgaactc aacttattcc taacatttgt ctacctcaaa gaaatttcaa
     2221 gattatttag ataacatgga tatgtgccaa atcctttgag ctgttaagat gataatttcc
     2281 tgctttcctc ctacatcttc tcctcccact ccctcctttg gtgtgaatat tggcttccca
     2341 attaagacct tttttttttt ttttccagtt tgttttagct tattataggt tttggaggaa
     2401 ctttgccatt ttgtaatctt tcaaatcatt cttcaccctt cctcacatca gcttcctgct
     2461 tttcccagtg ttttactgta aattgtgtag catatgacaa atcttgagct gactttcctc
     2521 ttcacctgtt atggctggag tattttccag acctgaaggg actcacactt gttttgatac
     2581 ttggatcaca tctccgtgag gttaggaagg taaatctacc aacaggaagc cctgtactct
     2641 gtattccaag gccattggta aatgtgttgg tgccactgat cggactgtat gaccttaaac
     2701 aagtcacctt agttttcagt gaaatgggaa tatcattgtc tcctctttca tgaatgctgt
     2761 gagaatcaga tgtgcaacag gtacagactt gccctttgaa atctatacct ctggatacat
     2821 tagaggcatt ttattaacaa aggcccttct aaatgtgcta tttatttgac aataactatc
     2881 agatttgcct taattttgtg tttatagcat ttatcaaaac gtatcctcat agactttatg
     2941 cagattaata tggtcaattg atttggataa aagaaagtaa tttcagggtt tgtttttaag
     3001 ccaggacaag aagtgcaaat gcctctttga agcaatttag gctaaactga ttttgaaatt
     3061 tcaaaatgtt ttattttact ttgttttatt aagccaggac aagaagtgca aatgcctctt
     3121 tgaagcaatt caggctaggt aaaccgattt tgccatttca aaacgtttta ttttactttg
     3181 ttttatatca gagtcttata aaacctgctg caaatatttc tgaatgtctt tgtaaaagtg
     3241 tttgttagtg tacctgtgat tatagtactt cacttttttc ctttggatta attggttaaa
     3301 tgaatgagaa atgtgttatg ttttttacta aaaagtataa attaaaattt tggaaagaaa
     3361 aggcaatatt atctggctcc ccaattaaag tttgatttta ttgtcacaaa a
//
LOCUS       NM_001012755            6207 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens solute carrier family 25 member 53 (SLC25A53), mRNA.
ACCESSION   NM_001012755
VERSION     NM_001012755.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6207)
  AUTHORS   Palmieri F.
  TITLE     The mitochondrial transporter family SLC25: identification,
            properties and physiopathology
  JOURNAL   Mol Aspects Med 34 (2-3), 465-484 (2013)
   PUBMED   23266187
  REMARK    GeneRIF: Compares and contrasts all the known human SLC25A* genes
            and includes functional information. Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AL833609.1, SRR14372079.2165595.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142680
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000594199.3/ ENSP00000468980.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL833609.1, BC140814.1 and AC234783.5.
            On Nov 22, 2018 this sequence version replaced NM_001012755.4.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6207
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.2"
     gene            1..6207
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="solute carrier family 25 member 53"
                     /db_xref="GeneID:401612"
                     /db_xref="HGNC:HGNC:31894"
                     /db_xref="MIM:300941"
     misc_feature    113..115
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="upstream in-frame stop codon"
     CDS             164..1087
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="mitochondrial carrier triple repeat protein 6"
                     /codon_start=1
                     /product="solute carrier family 25 member 53"
                     /protein_id="NP_001012773.2"
                     /db_xref="CCDS:CCDS35363.1"
                     /db_xref="GeneID:401612"
                     /db_xref="HGNC:HGNC:31894"
                     /db_xref="MIM:300941"
                     /translation="MGEQNHSPGKELQHRTRAEAPGKKSWHSQAYALGAVSNFMSTFLT
                     FPIYKVVFRQQIHAMAVSEAVRQLWHEGPQYFYRGIYPPLLSKTLQGTLLFGTYDSLLC
                     FLSPVGPHTLGHRWAAGLMSGVVEAVALSPFERVQNVLQDGRKQARFPSTFSILKEFNS
                     YGLWGRLSLGYYRGFWPVLARNSLGSALYFSFKDPIQDGLAEQGLPHWVPALVSGSVNG
                     TITCLVLYPLIVLVANMQSHIGWQNMPSLWASAQDVWNTRGRKLLLIYRGGSLVILRSS
                     VTWGLTTAIHDFLQRKSHSRKELKTD"
     misc_feature    164..232
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H9E4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    236..478
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H9E4.1);
                     Region: Solcar 1"
     misc_feature    254..316
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H9E4.1);
                     transmembrane region"
     misc_feature    407..469
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H9E4.1);
                     transmembrane region"
     misc_feature    497..769
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H9E4.1);
                     Region: Solcar 2"
     misc_feature    497..559
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H9E4.1);
                     transmembrane region"
     misc_feature    704..766
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H9E4.1);
                     transmembrane region"
     misc_feature    791..1069
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H9E4.1);
                     Region: Solcar 3"
     misc_feature    806..868
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H9E4.1);
                     transmembrane region"
     misc_feature    968..1033
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H9E4.1);
                     transmembrane region"
     regulatory      2950..2955
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="hexamer: AATAAA"
     polyA_site      2973
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="major polyA site"
     regulatory      3811..3816
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="hexamer: AATGAA"
     polyA_site      3827
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
     regulatory      6186..6191
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
                     /note="hexamer: AATAAA"
     polyA_site      6207
                     /gene="SLC25A53"
                     /gene_synonym="MCART6"
ORIGIN
        1 gggagctccg ttgtgcgtcg cttaagtgag ggcggcggat gggcgaaggt ccggtgactg
       61 cgactgtcgc tgctttctga ggccacagga aaggggccgt cggtcgccgc catgacagcg
      121 agcgaggcgg agtttcttcc atctgcaccc agttgtcttc agcatggggg agcagaacca
      181 ctctcccggg aaggagcttc agcacaggac gcgagcagag gctccaggaa agaaaagctg
      241 gcattcccag gcctatgccc ttggggccgt ttccaacttt atgtctactt ttctgacctt
      301 tcctatctat aaggttgtgt tccggcaaca gatccatgcc atggcagtgt cagaggctgt
      361 gagacagctt tggcatgaag gtcctcaata cttctaccgg ggaatctacc ctcctcttct
      421 ctccaagacg ttgcaaggga ctcttctgtt tgggacttat gatagcctgc tgtgctttct
      481 ctctcctgtt gggccacaca ccctgggaca ccgctgggct gccgggctca tgtctggcgt
      541 ggtggaggcc gtggcactca gcccctttga aagggtgcaa aatgtgctcc aggatggtcg
      601 caagcaagct cgcttcccca gcaccttcag cattctcaag gaattcaatt cttatgggct
      661 ttgggggcgg ctgtcactgg gctactatcg tggtttctgg cctgtcctgg ccaggaacag
      721 cctggggagt gctctatatt tttctttcaa ggaccccatc caggatggcc tggcagagca
      781 aggcctgccc cactgggttc ctgccttggt gtctggtagt gtcaatggaa caatcacctg
      841 cctagttctg tatcctctga ttgtgctggt tgctaatatg cagtcccata ttggatggca
      901 gaacatgcca agcctgtggg cctctgccca ggatgtatgg aacactcggg gccgaaagct
      961 gctcctgatc taccgtggag gctccctagt catcctaagg tccagtgtga catggggcct
     1021 cactacggca atccatgact tcctgcagag gaagtcgcac tccaggaaag agctgaagac
     1081 tgactagctg cagaaagtgt ggcatggcag ctttgttatt ctaaatcttc cctggttggt
     1141 tctatatagc ttacttcttt ggctaggttg cctaatacag ccatccttta gcatctataa
     1201 actcattgca tgggagaagt tcccaactac caacctgttg agcaaggaca aagcccaaaa
     1261 gtattcctta gtcaaaaaga aacgttcacc ccagtctctc cacagtttca gtagcctcag
     1321 agccaggagg cctttaaata acatgtaacc cagattaagt gtcattcctt taaggaattc
     1381 cttggcaata aacagaaact taaaaagatg accttactta ggcactctga gctctgggac
     1441 ccctctaggt gtcctccaga ccaaactgag tggaactcca atttcaaaga actatgcttg
     1501 actcttagga tgggaattcc ataaaacttc tcagatggct acattttcat gatattgttc
     1561 actgcctcta ccaccacctc tcacttctca aggctgtggg tcctactttc agggtagcag
     1621 ctgtggctgg aaatcctaaa ttaggcttgc atgaactcgt caggtgccac aagaactagt
     1681 ggggctggag atgggagtga gaagaggcgt ggcccatgga tggaaagaat aaaaactttg
     1741 aaagaaaaga tttaattaca tgcaaaatag aaacatttgc tatagtctgc ttggtgttat
     1801 ctgctaggac atttctgaga gcaaggtgat aacattgcct agaaaccgtt tgagtttccc
     1861 taagaaacct ggaagtgaag tgaccatatc tcttcacaga aaattgcata ttttgttgat
     1921 gtggttaaat gtagttacta tgacataaag atcagaaatc ttagcctgtc attcagagcc
     1981 attcaaaata tggtcatcat ataactttca acatattgtc actccactta cataaacccc
     2041 aaacactagc cataatgaac tattgttctc tccccagaca ttccatgaac tttcccatgg
     2101 ccatactctg gcccacacta ttctttccac ctgcagtgct ccttcttcac atgccagtct
     2161 accaaaatcc ttccagttcc ttgaagccca gctcagaggt caccttctct atggagttct
     2221 tgattttccc caactgaatg tgacattagt ctctgtgatg cccctttctt tttttttttt
     2281 ttgagacgga gtttcgctct tgttgcccag gctggagtgc caatggtgtg atctcagctc
     2341 actgcaacct ccacctcccg gattcaagtg attctcctgc ctcagcctcc cgagtagctg
     2401 gaattacagg cgcccaccac catgcctggc taattttgta tttttagtag agatggggtc
     2461 tctccatgtt ggtcaggctg gtctcgaact cccaacctca tcaggtgatc cacccacctc
     2521 ggtctcccaa agtgctggga ttacaggcgt gagccaccgc gcccagcctc tgtgatgccc
     2581 ctttctaaca gcacttcata cagggtactg attccattat gtcactaatc tcatgtgacc
     2641 ctttgttctt gtattcttca atacctccta ctagactgta aaactcattg aaagcaggga
     2701 tttttgtatg cattttaaaa tcttccattg tgcctaggtg ctcaataacg ttggtcaaat
     2761 tactgagttg attatcaagc tgtgatatgg tatatcctca gggtgctgtc ccttgtacat
     2821 gacgataaag ttattgactc actgtcagca agacacgtgc ctttgggctg tgtttttgct
     2881 ttcttttaat aattgattta gttttgtgct aatgataatg atgctgctac tgataataat
     2941 aataacaata ataaaaatta ctttcaactg gcacatttga tgagtttata ttactgatgg
     3001 catgtttgct attagcacca gttcaggaac tgaaatttca caaacagaat cacactgtac
     3061 aactgtacca tttgtttcaa ctctggaatt ttgaggattt ccaagatgac atgtgttata
     3121 gtttccccct acagatatct tagtaatgcc ctcctcttgc atctccttac tgaaccaaat
     3181 ttgtcctgta tttgtcttac ttggttgtag atttagcagt gagaacttct cactgaatgc
     3241 cacagaaatt aaagacatgg ttgttggagg tatgatgtca gagagcattt gccaccaagg
     3301 ttggcagaaa atggctggtc caggagagct gaagatgagc ttccacatct gcagatcggg
     3361 atgtgttggg acagtactca acttgtggat tcaaggaagt atgaacacag agtctgcata
     3421 aggaaaggaa aaagatgcat tcatctccca agtacactgg tgatttccac ttatgtcatt
     3481 ctgtccatcc atgtcccttt cttcatttta acttcttatt taaaaataat ttcaaacatt
     3541 taaaaatgtt gcaagcataa ataaagctta aagaacaccc atgtcccctt taccctaatt
     3601 cccctattat taatgtttct ccccatttgc tttattattt aagtgtgcac tctgtctata
     3661 cacacacagg atattttttc cctgaactat ctgagagttg catacatcag ttttcaatat
     3721 tcctagattc aatgtttgta gatccaaatt attttttaag agaccgtgtt ttatctctga
     3781 caatgggaca gttattacag aatataataa aatgaaaact cacacaatat atgtgatatt
     3841 gtgaaatata tacttggtct ttgatcctgt ttcttggcat acaactccta aaatccttag
     3901 aatttccaaa gtgatatctt tttgtatgct aataattgac tgatggctgg cagcctctgg
     3961 ttgcttcagg atgggaacta gtcaccagga agaccaaggc accattagag ggttgggact
     4021 taacagcctc attcccgacc tccagggagg ggagagggat ggaaggttaa gttgatcacc
     4081 agtggccaat gatttaatca atcatgccta cgcaatgaag cttccataaa aaccccaaag
     4141 cactgggttt ggagagcttc cagatagctg aacatgtgga ggttcctgga gggtggtgac
     4201 ccagggaggg cacagaagct ctgagcccct tccgcagtac ctcaccctat gcatctcttc
     4261 atctctatcc tttgatatat cctttataat aaagtggtaa acgttaagta tttccccaag
     4321 ttctgtgacc ctttctggca aattaaaccc aaagaagggg tcatgtgaac tcaaacttga
     4381 agcccatctg tcagaagttc tggaggcttg gatttgcgac tggtgtctga agggcctggg
     4441 aacagtcttg tgaaacctag tcctcagctt gtgggatatg acgctatctc caggtagatt
     4501 gtgtcagaat ggaattggag tacacccagc tggtgttcgc tgcagaactg attgctcact
     4561 tagtgtgtgg gaaaactcca cacatctgga catggaaata ttctgtgctg attgccgtgg
     4621 tgtaagagca atgcaaaaag tttgggtatt ttcccctcgg agtatatttt aaagctaaat
     4681 tgctaataat tgcttaaatt tactatattt gcctttataa aaactttatg tatgttgaag
     4741 cttgaagcta tgcaattata atataaacat ggatttacaa ctaaagcatg ttataattta
     4801 aataattgag tttttcaaat cggttcatat gaaatcctag gcaatattgt aaaattatac
     4861 agacctgtca actttttcca cttaaaagtt gtgagcaaaa tttaagggca tagtcgtttt
     4921 caagtaattt taaatgtcaa tgttaatatt tagtttagtg atgttaatgg agctatgttt
     4981 tctgatatta aaaatgagtt ttaggagttg agaccaataa aataaggagg taataaatat
     5041 ctatatctgt ttaaacacat aaaatataca atttaacact aaaattactt ggtataaaaa
     5101 gtcaaaaaaa agaataaaaa gccatcatac aacacaatat atgcgtgata tatatttttc
     5161 tctaaatata aactacatca gcttttataa agctcaagtt gaaataataa cgttttatga
     5221 caaatcatta tatggtatat tctgacttaa ttttgcattt acaatttatt tttaaacact
     5281 aaatagcatt ataattttac tgggataact atatatagtg tagtatatta aagttaataa
     5341 aatgacgttg catatgagag aaaaagcata ataaatcaga aacaatataa aaagctttca
     5401 gaaaagataa aaatattgta tttctctagt ctgttcactc tccagtgtct ctggttcttt
     5461 catatcatct tcctttcctc aaatctttta atactccctc cctcatcatt tccaactagt
     5521 gaccctactt tctatttcat taagaaaaca gatacattca gaagagaact gccagtttaa
     5581 agaacattta caaagccatc acccatgtaa taaccagcca gagcaagaaa tagagccctt
     5641 taataaccta ctcttctccc cccaccactg atgacaccgc tccctccatc ttaggtgtag
     5701 cccccatgct gacttttgta ataataattt ctttgctttt gtttataagt tttcttcctt
     5761 ataagcatct ctaaacaaca gttttgtttt acagatgttc aaacattaaa tgctttttag
     5821 acttggaatt gtgactatct tgtttcactc cacattgctt gtgagactca ttgatattgc
     5881 agatagctgt agttgatcca tttttattgt tgtacagttt accattgtat aaatatacca
     5941 tgatttattc atgataactt tgaggaacat tctggttgtt tgcaggtttt atttttacag
     6001 ttcattagtt ttattgatgt ataataattg tatatgttta tggggtatat gtgatatttt
     6061 gatacatgtg tacaatgtgt aatgattaaa tcaaggtaat tgggatatcc atcagctcaa
     6121 acatttatca tttctttgca ttgggaacat tccaaatctt ctcttctagc tattttgaaa
     6181 tacacaataa attgaatact gtggtca
//
LOCUS       NM_001012758            1473 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens nudix hydrolase 17 (NUDT17), mRNA.
ACCESSION   NM_001012758
VERSION     NM_001012758.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1473)
  AUTHORS   Song MG, Bail S and Kiledjian M.
  TITLE     Multiple Nudix family proteins possess mRNA decapping activity
  JOURNAL   RNA 19 (3), 390-399 (2013)
   PUBMED   23353937
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.165022.1,
            SRR9304715.737834.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000334513.6/ ENSP00000334437.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC239808.3.
            On Nov 22, 2018 this sequence version replaced NM_001012758.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1473
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.1"
     gene            1..1473
                     /gene="NUDT17"
                     /note="nudix hydrolase 17"
                     /db_xref="GeneID:200035"
                     /db_xref="HGNC:HGNC:26618"
     CDS             12..998
                     /gene="NUDT17"
                     /note="nudix motif 17; nudix (nucleoside diphosphate linked
                     moiety X)-type motif 17"
                     /codon_start=1
                     /product="nucleoside diphosphate-linked moiety X motif 17"
                     /protein_id="NP_001012776.1"
                     /db_xref="CCDS:CCDS72865.1"
                     /db_xref="GeneID:200035"
                     /db_xref="HGNC:HGNC:26618"
                     /translation="MAEVRVQLLLSRRPESVSFARSVCGLLGAGPGLGTWPIHCSLKRG
                     RLVLSSRPFPGASARLPLQRPPFCPFAALEERPRVPGAELPTDRGVDLGVAVILQSSDK
                     TVLLTRRARTLSVSPNLWVPPGGHVELEEELLDGGLRELWEESGLHLPQGQFSWVPLGL
                     WESAYPPRLSWGLPKYHHIVLYLLVISQESQQQLQARIQPNPNEVSALMWLTPDVAAAV
                     AAAEDGTETPGLLPQDLPPSVLAVELEEDGRARPLVLHMSTLLRMIPTMAEDKERVSTG
                     TKFALKLWLQHLGRTPPPCKSAAYLDPGPAKEEWNMDPLPPNQGSGK"
     misc_feature    390..455
                     /gene="NUDT17"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C025.2);
                     Region: Nudix box"
     misc_feature    906..995
                     /gene="NUDT17"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C025.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1447..1452
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NUDT17"
                     /note="hexamer: AATAAA"
     polyA_site      1473
                     /gene="NUDT17"
                     /note="major polyA site"
ORIGIN
        1 agagtcgcgt tatggccgag gtgcgggtgc agctgctcct gtcccggcgt ccggagtcgg
       61 tgagcttcgc acggagtgtg tgtggcctcc tgggagccgg accagggctc gggacgtggc
      121 ccattcactg cagcttgaag cgaggacggc ttgtcctctc gagcaggccc ttcccaggcg
      181 cctccgctag gcttccgctc cagcgacccc ctttctgccc ttttgcggcc ctggaggagc
      241 ggcccagggt ccctggggct gagctgccca cagatcgagg tgtggacctg ggtgtggccg
      301 tcattctgca gtccagcgac aagactgtct tgctaacccg aagggcacgc accctgagcg
      361 tttcccccaa cctctgggta cccccgggtg ggcacgtgga acttgaggag gagctgctgg
      421 acggagggct tcgagaactt tgggaggaga gtggactaca cctgccccag ggccagttct
      481 cttgggtccc tctgggttta tgggagtctg cctaccctcc taggctgagc tggggtttac
      541 ccaaatacca tcacattgtt ctgtatctac tcgtgatctc ccaggaatca cagcagcagt
      601 tgcaggcccg gatccaacca aacccaaatg aggtgagcgc ccttatgtgg ctgacaccag
      661 atgtagctgc tgcagtggct gccgcagagg atgggacaga gacacccgga cttctccccc
      721 aggacctacc accctctgtc cttgcagtgg aactagagga ggatggaaga gcccgacctc
      781 tggtcctgca catgtccacc ctcctgcgga tgatcccaac catggcagag gacaaagaga
      841 gagtcagcac tggaaccaag tttgccctca agctctggct gcaacatctg ggcagaacac
      901 ccccaccgtg taaaagtgca gcttacctgg acccagggcc agcaaaggaa gaatggaaca
      961 tggaccctct tcccccaaac caggggtctg gaaagtgaag tgtaaaatcc cctccctagc
     1021 ccatctccat gacactcaca gaacattcac aacctttatt atgggtgaga gcttcactac
     1081 aactttagaa ataaaaagta aaattacaac ataggtccta ggccttggcg agcctgaaaa
     1141 agaagattgg gaaggagggc acagggtcct tccacctccc tggaaaggtg cagaatgagc
     1201 caggcctaac tacagggcca tgagcctcta gaagcttagg ggggaataag aaacactgtg
     1261 aacttagata tataaataga gagagaccca agcaataggc cgggcctgac tcccagaccc
     1321 ctgcagatca tggctaaggc cttacatcct cctctgtcat actggagtag gaggcagggg
     1381 aagtcatctt tggagtattt tggtttttct tatttatgta caaaaaagtc cacatccaca
     1441 atccaaaata aagttctctg tccatctctg aaa
//
LOCUS       NM_001012759            1721 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens cytosolic thiouridylase subunit 2 (CTU2), transcript
            variant 1, mRNA.
ACCESSION   NM_001012759
VERSION     NM_001012759.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1721)
  AUTHORS   Shaheen R, Mark P, Prevost CT, AlKindi A, Alhag A, Estwani F,
            Al-Sheddi T, Alobeid E, Alenazi MM, Ewida N, Ibrahim N, Hashem M,
            Abdulwahab F, Bryant EM, Spinelli E, Millichap J, Barnett SS,
            Kearney HM, Accogli A, Scala M, Capra V, Nigro V, Fu D and Alkuraya
            FS.
  TITLE     Biallelic variants in CTU2 cause DREAM-PL syndrome and impair
            thiolation of tRNA wobble U34
  JOURNAL   Hum Mutat 40 (11), 2108-2120 (2019)
   PUBMED   31301155
  REMARK    GeneRIF: Our data establish a recognizable CTU2-linked autosomal
            recessive syndrome in humans characterized by defective thiolation
            of the wobble uridine. The potential deleterious consequences for
            the translational efficiency and fidelity during development as a
            mechanism for pathogenicity represent an attractive target of future
            investigations. Erratum:[Hum Mutat. 2021 Feb;42(2):219. PMID:
            33559988]
REFERENCE   2  (bases 1 to 1721)
  AUTHORS   Chaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ,
            Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE,
            Ledbetter DH, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS,
            Lese Martin C, Beaudet AL, Lord C, State MW, Cook EH Jr and Devlin
            B.
  TITLE     A genome-wide association study of autism using the Simons Simplex
            Collection: Does reducing phenotypic heterogeneity in autism
            increase genetic homogeneity?
  JOURNAL   Biol Psychiatry 77 (9), 775-784 (2015)
   PUBMED   25534755
REFERENCE   3  (bases 1 to 1721)
  AUTHORS   Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN,
            Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S,
            Ferreira T, Wood AR, Weyant RJ, Segre AV, Speliotes EK, Wheeler E,
            Soranzo N, Park JH, Yang J, Gudbjartsson D, Heard-Costa NL, Randall
            JC, Qi L, Vernon Smith A, Magi R, Pastinen T, Liang L, Heid IM, Luan
            J, Thorleifsson G, Winkler TW, Goddard ME, Sin Lo K, Palmer C,
            Workalemahu T, Aulchenko YS, Johansson A, Zillikens MC, Feitosa MF,
            Esko T, Johnson T, Ketkar S, Kraft P, Mangino M, Prokopenko I,
            Absher D, Albrecht E, Ernst F, Glazer NL, Hayward C, Hottenga JJ,
            Jacobs KB, Knowles JW, Kutalik Z, Monda KL, Polasek O, Preuss M,
            Rayner NW, Robertson NR, Steinthorsdottir V, Tyrer JP, Voight BF,
            Wiklund F, Xu J, Zhao JH, Nyholt DR, Pellikka N, Perola M, Perry JR,
            Surakka I, Tammesoo ML, Altmaier EL, Amin N, Aspelund T, Bhangale T,
            Boucher G, Chasman DI, Chen C, Coin L, Cooper MN, Dixon AL, Gibson
            Q, Grundberg E, Hao K, Juhani Junttila M, Kaplan LM, Kettunen J,
            Konig IR, Kwan T, Lawrence RW, Levinson DF, Lorentzon M, McKnight B,
            Morris AP, Muller M, Suh Ngwa J, Purcell S, Rafelt S, Salem RM,
            Salvi E, Sanna S, Shi J, Sovio U, Thompson JR, Turchin MC, Vandenput
            L, Verlaan DJ, Vitart V, White CC, Ziegler A, Almgren P, Balmforth
            AJ, Campbell H, Citterio L, De Grandi A, Dominiczak A, Duan J,
            Elliott P, Elosua R, Eriksson JG, Freimer NB, Geus EJ, Glorioso N,
            Haiqing S, Hartikainen AL, Havulinna AS, Hicks AA, Hui J, Igl W,
            Illig T, Jula A, Kajantie E, Kilpelainen TO, Koiranen M, Kolcic I,
            Koskinen S, Kovacs P, Laitinen J, Liu J, Lokki ML, Marusic A,
            Maschio A, Meitinger T, Mulas A, Pare G, Parker AN, Peden JF,
            Petersmann A, Pichler I, Pietilainen KH, Pouta A, Ridderstrale M,
            Rotter JI, Sambrook JG, Sanders AR, Schmidt CO, Sinisalo J, Smit JH,
            Stringham HM, Bragi Walters G, Widen E, Wild SH, Willemsen G, Zagato
            L, Zgaga L, Zitting P, Alavere H, Farrall M, McArdle WL, Nelis M,
            Peters MJ, Ripatti S, van Meurs JB, Aben KK, Ardlie KG, Beckmann JS,
            Beilby JP, Bergman RN, Bergmann S, Collins FS, Cusi D, den Heijer M,
            Eiriksdottir G, Gejman PV, Hall AS, Hamsten A, Huikuri HV, Iribarren
            C, Kahonen M, Kaprio J, Kathiresan S, Kiemeney L, Kocher T, Launer
            LJ, Lehtimaki T, Melander O, Mosley TH Jr, Musk AW, Nieminen MS,
            O'Donnell CJ, Ohlsson C, Oostra B, Palmer LJ, Raitakari O, Ridker
            PM, Rioux JD, Rissanen A, Rivolta C, Schunkert H, Shuldiner AR,
            Siscovick DS, Stumvoll M, Tonjes A, Tuomilehto J, van Ommen GJ,
            Viikari J, Heath AC, Martin NG, Montgomery GW, Province MA, Kayser
            M, Arnold AM, Atwood LD, Boerwinkle E, Chanock SJ, Deloukas P,
            Gieger C, Gronberg H, Hall P, Hattersley AT, Hengstenberg C, Hoffman
            W, Lathrop GM, Salomaa V, Schreiber S, Uda M, Waterworth D, Wright
            AF, Assimes TL, Barroso I, Hofman A, Mohlke KL, Boomsma DI,
            Caulfield MJ, Cupples LA, Erdmann J, Fox CS, Gudnason V, Gyllensten
            U, Harris TB, Hayes RB, Jarvelin MR, Mooser V, Munroe PB, Ouwehand
            WH, Penninx BW, Pramstaller PP, Quertermous T, Rudan I, Samani NJ,
            Spector TD, Volzke H, Watkins H, Wilson JF, Groop LC, Haritunians T,
            Hu FB, Kaplan RC, Metspalu A, North KE, Schlessinger D, Wareham NJ,
            Hunter DJ, O'Connell JR, Strachan DP, Wichmann HE, Borecki IB, van
            Duijn CM, Schadt EE, Thorsteinsdottir U, Peltonen L, Uitterlinden
            AG, Visscher PM, Chatterjee N, Loos RJ, Boehnke M, McCarthy MI,
            Ingelsson E, Lindgren CM, Abecasis GR, Stefansson K, Frayling TM and
            Hirschhorn JN.
  TITLE     Hundreds of variants clustered in genomic loci and biological
            pathways affect human height
  JOURNAL   Nature 467 (7317), 832-838 (2010)
   PUBMED   20881960
REFERENCE   4  (bases 1 to 1721)
  AUTHORS   Schlieker CD, Van der Veen AG, Damon JR, Spooner E and Ploegh HL.
  TITLE     A functional proteomics approach links the ubiquitin-related
            modifier Urm1 to a tRNA modification pathway
  JOURNAL   Proc Natl Acad Sci U S A 105 (47), 18255-18260 (2008)
   PUBMED   19017811
  REMARK    GeneRIF: Identifies the product of this gene as being involved in
            tRNA modification.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1162382.1,
            SRR3476690.364587.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000453996.7/ ENSP00000388320.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC125269.1, AA448486.1,
            BC080540.1 and AC138028.1.
            On Nov 22, 2018 this sequence version replaced NM_001012759.2.
            Summary: This gene encodes a protein which is involved in the
            post-transcriptional modification of transfer RNAs (tRNAs). The
            encoded protein plays a role in thiolation of uridine residue
            present at the wobble position in a subset of tRNAs, resulting in
            enhanced codon reading accuracy. Alternative splicing results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, Jan 2016].
            Transcript Variant: This variant (1) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 3. It
            encodes isoform 1, which lacks an internal in-frame segment and is
            shorter, compared to isoform 3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1721
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..1721
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /note="cytosolic thiouridylase subunit 2"
                     /db_xref="GeneID:348180"
                     /db_xref="HGNC:HGNC:28005"
                     /db_xref="MIM:617057"
     CDS             29..1576
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cytoplasmic tRNA 2-thiolation protein 2; cytosolic
                     thiouridylase subunit 2 homolog"
                     /codon_start=1
                     /product="cytoplasmic tRNA 2-thiolation protein 2 isoform
                     1"
                     /protein_id="NP_001012777.1"
                     /db_xref="CCDS:CCDS45545.1"
                     /db_xref="GeneID:348180"
                     /db_xref="HGNC:HGNC:28005"
                     /db_xref="MIM:617057"
                     /translation="MCQVGEDYGEPAPEEPPPAPRPSREQKCVKCKEAQPVVVIRAGDA
                     FCRDCFKAFYVHKFRAMLGKNRLIFPGEKVLLAWSGGPSSSSMVWQVLEGLSQDSAKRL
                     RFVAGVIFVDEGAACGQSLEERSKTLAEVKPILQATGFPWHVVALEEVFSLPPSVLWCS
                     AQELVGSEGAYKAAVDSFLQQQHVLGAGGGPGPTQGEEQPPQPPLDPQNLARPPAPAQT
                     EALSQLFCSVRTLTAKEELLQTLRTHLILHMARAHGYSKVMTGDSCTRLAIKLMTNLAL
                     GRGAFLAWDTGFSDERHGDVVVVRPMRDHTLKEVAFYNRLFSVPSVFTPAVDTKAPEKA
                     SIHRLMEAFILRLQTQFPSTVSTVYRTSEKLVKGPRDGPAAGDSGPRCLLCMCALDVDA
                     ADSATAFGAQTSSRLSQMQSPIPLTETRTPPGPCCSPGVGWAQRCGQGACRREDPQACI
                     EEQLCYSCRVNMKDLPSLDPLPPYILAEAQLRTQRAWGLQEIRDCLIEDSDDEAGQS"
     misc_feature    29..100
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2VPK5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    32..34
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /note="N-acetylcysteine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q2VPK5.1); acetylation site"
     misc_feature    590..679
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2VPK5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1271..1273
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q2VPK5.1); phosphorylation site"
     misc_feature    1283..1285
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q2VPK5.1);
                     phosphorylation site"
     misc_feature    1331..1333
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q2VPK5.1); phosphorylation site"
     misc_feature    1550..1552
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q2VPK5.1); phosphorylation site"
     polyA_site      1689
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /note="major polyA site"
     regulatory      1699..1704
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
                     /note="hexamer: ATTAAA"
     polyA_site      1721
                     /gene="CTU2"
                     /gene_synonym="C16orf84; MFRG; NCS2; UPF0432"
ORIGIN
        1 acagtctgcg acgggacccg gcgtgcccat gtgtcaggtg ggcgaggact acggggagcc
       61 ggcgcctgag gagccgcccc cggcgccgcg gcccagccgt gagcagaagt gtgtgaagtg
      121 caaggaagcg cagcccgttg tggtgatacg agccggagat gccttctgca gggactgttt
      181 caaggccttc tacgtccaca agttcagagc catgctgggc aagaaccggc tcatctttcc
      241 aggcgagaag gtgctcttgg cgtggtctgg ggggccttcg tccagctcca tggtctggca
      301 ggttcttgag ggcctgagcc aagattctgc caaaagactg cgctttgtgg caggagtcat
      361 ctttgttgac gagggagcag cctgtggcca gagcctagag gagagatcaa agaccctggc
      421 cgaagtgaag cccattctgc aagcaactgg gttcccatgg catgtggtgg ccttagagga
      481 ggtgttcagc ctgccaccgt cggtgctttg gtgctctgcc caggagctgg tgggatccga
      541 gggggcctac aaggcggccg tggacagctt cctccagcag cagcatgtgc tgggggccgg
      601 gggtggtcct ggcccgactc aaggggagga acagccaccc cagcccccgc tggaccccca
      661 gaacctggca agaccgcctg cccctgccca gactgaggct ctttcccaac tgttctgctc
      721 agtgaggaca ctgactgcca aggaggagct tctgcagacc ctgcggaccc acctgatcct
      781 ccacatggcc cgagcccacg gctactccaa ggtcatgact ggggacagct gcacacgctt
      841 ggctatcaag ctcatgacca acctggcgct gggtcgaggg gccttcctgg cctgggatac
      901 gggcttctcg gatgagcggc acggggacgt ggtggtggtg cggcccatgc gggaccacac
      961 cctgaaggag gtcgctttct acaaccgcct gttctccgtt ccttctgtct tcacaccagc
     1021 cgtcgacacc aaggcccctg aaaaggccag catccaccgg ctgatggagg ccttcatcct
     1081 caggctgcag acccagttcc cctccactgt cagcactgtg tacaggacaa gtgagaagct
     1141 ggtgaagggc ccccgggatg gccctgctgc tggcgactcc ggcccccgct gcctcctctg
     1201 catgtgtgcc ctggacgtcg acgccgctga cagtgccacg gcttttgggg ctcagacctc
     1261 ctcgcgtctc tcccagatgc agtcacccat ccccctgact gagacccgga cacccccggg
     1321 gccctgctgt tctccagggg tgggctgggc ccagcgctgt ggccaggggg cctgcaggag
     1381 ggaggacccc caagcctgca ttgaggagca gctgtgctac agctgccgcg tgaacatgaa
     1441 ggacttgccc tcactggacc ccctgccgcc gtacatcctg gctgaggccc agctccgcac
     1501 acagagggcc tggggcttgc aggagatccg ggactgtctg attgaggaca gtgacgacga
     1561 ggcgggccag agctgagcgt gaggacgtgc ttgccgggac agcaggcagt ggccacctgg
     1621 tacaccacac tggagccgga aggcaaggac gggggactgg cctctgattg tccatttgta
     1681 taaataaaac attttttaat taaaaaaaaa actctacagt a
//
LOCUS       NM_001012967            6759 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens DExD/H-box 60 like (DDX60L), transcript variant 1,
            mRNA.
ACCESSION   NM_001012967
VERSION     NM_001012967.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6759)
  AUTHORS   Wu H, Tian W, Tai X, Li X, Li Z, Shui J, Yu J, Wang Z and Zhu X.
  TITLE     Identification and functional analysis of novel oncogene DDX60L in
            pancreatic ductal adenocarcinoma
  JOURNAL   BMC Genomics 22 (1), 833 (2021)
   PUBMED   34789165
  REMARK    GeneRIF: Identification and functional analysis of novel oncogene
            DDX60L in pancreatic ductal adenocarcinoma. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 6759)
  AUTHORS   Grunvogel O, Esser-Nobis K, Reustle A, Schult P, Muller B, Metz P,
            Trippler M, Windisch MP, Frese M, Binder M, Fackler O,
            Bartenschlager R, Ruggieri A and Lohmann V.
  TITLE     DDX60L Is an Interferon-Stimulated Gene Product Restricting
            Hepatitis C Virus Replication in Cell Culture
  JOURNAL   J Virol 89 (20), 10548-10568 (2015)
   PUBMED   26269178
  REMARK    GeneRIF: DDX60L is an interferon-gamma stimulated gene product
            restricting Hepatitis C virus replication in cell culture.
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000682922.1/ ENSP00000507872.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA553350.1, CR933601.1,
            AC079926.7, AK055595.1, AC093888.2, AL832950.1 and EB710202.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 13, 2020 this sequence version replaced NM_001012967.2.
            Summary: This gene encodes a member of the DExD/H-box helicase
            family of proteins, a subset of the super family 2 helicases.
            Members of the DExD/H-box helicase family share a conserved
            functional core comprised of two RecA-like globular domains. These
            domains contain conserved motifs that mediate ATP binding, ATP
            hydrolysis, nucleic acid binding, and RNA unwinding. In addition to
            functions in RNA metabolism, members of this family are involved in
            anti-viral immunity and act as cytosolic sensors of viral nucleic
            acids. The protein encoded by this gene has been shown to inhibit
            hepatitis C virus replication in response to interferon stimulation
            in cell culture. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Sep 2016].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignment data.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6759
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.3"
     gene            1..6759
                     /gene="DDX60L"
                     /note="DExD/H-box 60 like"
                     /db_xref="GeneID:91351"
                     /db_xref="HGNC:HGNC:26429"
                     /db_xref="MIM:616725"
     misc_feature    179..181
                     /gene="DDX60L"
                     /note="upstream in-frame stop codon"
     CDS             227..5347
                     /gene="DDX60L"
                     /EC_number="3.6.4.13"
                     /note="isoform 1 is encoded by transcript variant 1;
                     probable ATP-dependent RNA helicase DDX60-like; DEAD box
                     protein 60-like; putative ATP-dependent RNA helicase DDX60;
                     DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like; DEAD-box
                     helicase 60 like"
                     /codon_start=1
                     /product="probable ATP-dependent RNA helicase DDX60-like
                     isoform 1"
                     /protein_id="NP_001012985.2"
                     /db_xref="CCDS:CCDS47161.1"
                     /db_xref="GeneID:91351"
                     /db_xref="HGNC:HGNC:26429"
                     /db_xref="MIM:616725"
                     /translation="MGSKDHAVFFREMTQLILNEMPKAGYSSILNDFVESNFFVIDGDS
                     LLVTCLGVKSFKWGQNLHFFYLVECYLVDLLSNGGQFTIVFFKDAEYAYFDFPELLSLR
                     TALILHLQHNTNIDVQTEFSGCLSQDWKLFLEQHYPYFLIVSEEGLSDLQTYLFNFLII
                     HSWGMKVNVVLSSGHESDTLRFYAYTMESTDRNQTFSKENETVIQSAYKSLIQHLEEIR
                     VLVLATHFEHLKWNDMMEEAYQTLFLLQHLWSEGSDIQRVLCVTSCSLSLRMYHRVLVH
                     SNCLSLQEVEDFCRLRCLCVAFQLHLPLSQRACSRVITCSWIRNSDSFLKMNKWCEYFI
                     LSNLNVFGCWNLNLNHVSDLYDEQLLKNIAFYYEFESTQEPHLNLGDSIRRDYEDLWNV
                     VSHLVKEFNVGKSFPLRTTRRHFLRQEKSVIQEISLEKMPSVGFIPMTSAVIDEFVGDM
                     MKDLPILKSDDPVVPSLFKQKTSDELLHWHAQRLLSDDYDRIKCHVDEQSRDPHVLDFL
                     KKIQDYQQFYGKSLESISTKVIVTQTTRPKEDSSGASGEILQNTKPHQITKKSKKKSFL
                     KEDQNKAQQNDDLLFSIEEEMKNNLHSGIRKLEDYLTSCASNSVKFGVEMLGLIACFKA
                     WKKHCRGEGKISKDLSIAVQMMKRIHSLLERYPEILEAEHHQYIAKCLKYLGFNDLANS
                     LDPTLIGDDKNKKKYSIDIGPARFQLQYMGHYLIRDERKDRDPRVQDFIPNAWQQELLD
                     VVDKNESAVIVAPTSSGKTYASYYCMEKVLRESDVGVVVYVAPAKSLVGQVAATVENRF
                     TKTLPAGRTLCGAFTRDYCHNVLNCQVLITVPECFEILLLAPHRQKWVERIRYVIFDEV
                     HYLGREVGAKFWELLLVIIRCPFLVLSATINNPNLLTKWLQSVKQYWKQADKIMEEKCI
                     SEKQADKCLNFLQDHSYKNQSYEVRLVLCGERYNDLEKHICSVKHDDVYFDHFHPCAAL
                     TTDIIEKYGFPPDLTLTPQESIQLYDTMAQVWETWPRAQELCPEEFILFKNKIVIKKLD
                     ARKYEENLKAELTNWIKNGQVKKVKRVLKNLSPDSLSSSKDMVKMFPLLVEKLRQMDKL
                     PAIFFLFKNDDVGKRAGSVCTFLEKTETKSHPHTECHSYVFAIDEVLEKVRKTQKRITK
                     KNPKKAEKLERKKVYRAEYINFLENLKILEISEDCTYADVKALHTEITRNKDSTLERVL
                     PRVRFTRHGKELKALAQRGIGYHHSSMYFKEKEFVEILFVKGLIRVVTATETLALGIHM
                     PCKSVVFAQDSVYLDALNYRQMSGRAGRRGQDLLGNVYFFDIPLPKIKRLLASSVPELR
                     GQFPLSITLVLRLMLLASKGDDPEDAKAKVLSVLKHSLLSFKRRRAMETLKLYFLFSLQ
                     LLIKEDYLNKKGNPKKFAGLASYLHGHEPSNLVFVNFLKRGLFHNLCKPAWKGSQQFSQ
                     DVMEKLVLVLANLFGRKYIPAKFQNANLSFSQSKVILAELPEDFKAALYEYNLAVMKDF
                     ASFLLIASKSVNMKKEHQLPLSRIKFTGKECEDSQLVSHLMSCKKGRVAISPFVCLSGN
                     TDNDLLRPETINQVILRTVGVSGTQAPLLWPWKLDNRGRRMPLNAYVLNFYKHNCLTRL
                     DQKNGMRMGQLLKCLKDFAFNIQAISDSLSELCENKRDNVVLAFKQLSQTFYEKLQEMQ
                     IQMSQNHLE"
     misc_feature    1859..1966
                     /gene="DDX60L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H9U9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2831..2842
                     /gene="DDX60L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H9U9.2);
                     Region: DEAH box"
     regulatory      6740..6745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDX60L"
                     /note="hexamer: AATAAA"
     polyA_site      6759
                     /gene="DDX60L"
                     /note="major polyA site"
ORIGIN
        1 ggctcagagc gcccagtccg acgccaggct ctgcgctcgg tctcctctgc tccacctcct
       61 ccccgcgggg cgtgcagctc cgaagctctt tggacctagc aggttcggcg gccgggaggt
      121 gccattcaca tcaaatgtag ccattttaga ggtgtcaaaa taaatcagcc atatttaata
      181 aattccagct ctactcttct accctgtagc ccaagaagca gcaacgatgg ggtcaaagga
      241 tcatgcagta tttttcaggg aaatgacaca gttaattttg aatgaaatgc caaaagctgg
      301 gtattccagc atattaaatg attttgtgga atctaatttt tttgtgattg atggagattc
      361 cttgcttgtc acatgcctgg gtgtaaaatc attcaagtgg ggacagaatc tccacttttt
      421 ctatctggtt gaatgctatc ttgtggatct tctgagtaac ggaggacaat tcaccatagt
      481 tttctttaag gatgctgaat atgcatattt tgattttcct gaacttcttt cattgaggac
      541 cgctttaatt ctccaccttc aacacaatac taacattgat gtgcaaacgg agttttctgg
      601 atgcttatca caagattgga agttattctt ggaacagcat tacccgtatt ttctgatagt
      661 ttcagaggaa ggcctgagtg atttacaaac gtaccttttt aacttcctaa tcatacattc
      721 ctggggaatg aaagtcaatg ttgtgctttc atcagggcat gaatctgata ctctcagatt
      781 ttatgcatat actatggaaa gcacagacag aaaccaaact ttttccaagg agaatgaaac
      841 agtgattcag agtgcatata aaagcctcat acaacacttg gaagaaataa gggttttagt
      901 attagcaact cattttgaac atttgaaatg gaatgatatg atggaagagg cgtatcagac
      961 tctatttctg cttcagcacc tatggtcaga aggatcggac atccagcgtg ttctctgtgt
     1021 cacttcatgt tcactatcct tgagaatgta ccatcgtgtc ttagtgcaca gtaattgcct
     1081 atccctgcag gaggtggaag atttctgcag actgcgttgc ctctgtgtgg cttttcaact
     1141 ccacttaccc ctttctcaga gagcttgttc tcgagtcatc acatgctctt ggattaggaa
     1201 cagtgattct ttcttaaaaa tgaacaagtg gtgtgaatat ttcattttaa gcaacttaaa
     1261 cgtttttgga tgctggaatc tgaatttaaa tcatgtttct gacttgtatg atgagcaatt
     1321 gttaaagaat atagccttct actatgaatt tgaaagtact caagaaccac atttgaattt
     1381 gggagattcc attaggaggg attatgaaga cctgtggaat gttgtgtcac acctggttaa
     1441 agaatttaac gttggaaagt cttttcctct gagaacaaca agaagacatt ttcttagaca
     1501 agagaaatcg gtcattcaag aaatctcctt ggaaaagatg cctagtgtgg gctttattcc
     1561 aatgacatct gctgtaattg atgagtttgt tggagatatg atgaaggatt tgcctattct
     1621 aaagagtgat gatccggttg ttccttcact gtttaaacaa aagacatctg atgaactttt
     1681 gcactggcat gctcaaagac tccttagtga cgactatgac aggatcaaat gtcatgttga
     1741 tgaacaatct agagatcctc atgttcttga tttcctgaaa aagattcagg attatcagca
     1801 attttatggg aaatcgttag aatcaatctc tacgaaagtc attgtgactc aaactactcg
     1861 gccaaaggag gattccagtg gtgccagtgg tgaaatatta cagaatacca aaccccacca
     1921 aattaccaaa aagagtaaga aaaagtcatt tctcaaagaa gatcagaaca aagctcagca
     1981 aaacgatgat ctgctgtttt ctattgaaga ggagatgaag aacaatttac attctggaat
     2041 aaggaaattg gaagattatt tgacatcatg tgcaagtaat tcagtgaaat ttggagttga
     2101 aatgttagga ttaattgcct gctttaaagc atggaaaaaa cattgccgag gtgaaggcaa
     2161 aatttcgaaa gatttaagta tagctgttca aatgatgaaa aggattcatt cactcctgga
     2221 gagataccca gaaattttgg aagcagaaca tcatcaatat atagctaaat gccttaaata
     2281 tttaggcttt aatgatctgg caaactcttt ggatccaact ctgataggag atgacaaaaa
     2341 taagaagaaa tattcgattg acattggacc agctcggttt caactgcaat acatgggcca
     2401 ttacttgata agagatgaaa gaaaagatcg ggatcccagg gtccaggatt ttattcccaa
     2461 cgcatggcag caggaactcc tggatgtggt agataagaat gagtcagcag tgattgttgc
     2521 cccaacgtcc tcaggcaaaa cctatgcttc ctactactgc atggagaaag tgctgaggga
     2581 gagcgatgtc ggggtggttg tgtacgttgc acccgcaaag tcccttgttg gtcaagtggc
     2641 tgcaactgtt gagaatcgtt ttactaaaac gttgcctgcc ggcagaactc tatgcggtgc
     2701 ttttacaaga gattattgtc acaatgtact aaactgtcag gtacttatta cagtgccgga
     2761 atgttttgaa atcctgttgc ttgctcctca tcgccaaaaa tgggtggaaa ggatcagata
     2821 tgttatattt gatgaggtcc attatcttgg cagagaagtt ggagcaaaat tttgggagct
     2881 cctccttgtc attattcgat gtcccttttt ggttctttca gctaccataa ataacccaaa
     2941 tcttctcacc aagtggctgc aatcagtaaa acagtactgg aaacaggcag acaagattat
     3001 ggaagagaaa tgtatttctg aaaaacaggc tgacaaatgt ctcaactttc tccaagacca
     3061 ttcatataaa aatcaatcat atgaagttag acttgtgctc tgtggagaga gatacaatga
     3121 tttagagaag catatatgtt cagtaaaaca tgatgatgtt tattttgatc attttcatcc
     3181 ctgtgctgcg ctaacgacag atattattga aaagtatgga ttcccacctg atcttaccct
     3241 cacccctcaa gaaagcatcc agctttatga taccatggct caagtctggg aaacttggcc
     3301 cagggctcag gaattgtgtc cagaggaatt cattcttttt aagaataaga tagtcattaa
     3361 gaagttggat gctagaaaat atgaagaaaa cttaaaggca gaattgacaa attggattaa
     3421 aaatggccaa gtgaagaagg tcaaaagagt actgaagaac cttagtccgg attcattgtc
     3481 tagttcaaaa gatatggtga aaatgtttcc tcttcttgtt gaaaagttaa gacaaatgga
     3541 taagttgcct gcaatatttt ttttgtttaa gaatgatgat gtgggaaaaa gagctggaag
     3601 tgtgtgcact tttctggaga agacagagac aaaaagccat ccccacactg aatgtcatag
     3661 ttatgtcttt gcaatagatg aagtacttga aaaagtgagg aagacacaga aaaggatcac
     3721 taaaaaaaac ccaaagaagg ctgaaaaact ggaaagaaaa aaagtgtata gagctgaata
     3781 tattaatttc ctggagaatc tgaagattct ggaaatttct gaggactgca cgtatgctga
     3841 tgtcaaagcc ctacacactg aaattaccag gaataaagac tcaactttgg agagggtatt
     3901 accgcgagtg cgatttacaa gacacggcaa agaactgaag gctttagcac aaagggggat
     3961 tggatatcat cacagcagca tgtattttaa agaaaaagag tttgttgaga tactctttgt
     4021 aaaagggctt attagggtag tgacagctac tgaaacactt gccttaggga tccacatgcc
     4081 atgcaaatct gttgtttttg cccaagactc agtctatctg gatgctttaa attacagaca
     4141 gatgtctggt cgtgctggaa gaagaggtca agacctgctt ggaaatgtgt atttctttga
     4201 tatcccattg cccaaaataa aaagactcct tgcatccagt gttcctgagc tgagaggaca
     4261 gttccctctc agcataaccc tggtcctgcg actcatgctg ctggcttcca agggagatga
     4321 cccagaggat gccaaggcaa aggtgttgtc agtgctaaag cattcattgc tgtcttttaa
     4381 gagacgaaga gccatggaga ctttgaaact ttactttttg ttttccttgc agctccttat
     4441 caaagaggac tatttaaata aaaagggtaa tccaaagaaa tttgcaggac ttgcatcata
     4501 tttgcatggt catgaacctt caaatcttgt ttttgtaaat tttctcaaga gaggcctttt
     4561 ccataatctc tgtaagccag cctggaaagg ctcacaacaa ttttcccaag atgtgatgga
     4621 aaagctcgtg ttagtattgg caaatttgtt tggaagaaaa tatattccag caaaattcca
     4681 aaatgctaat ttaagttttt ctcagtcaaa ggtgatcctt gccgaactcc cggaggattt
     4741 taaagctgct ttatatgagt ataacctggc agtaatgaag gattttgcct ccttcctgct
     4801 gattgcttcc aagtcggtga acatgaaaaa agagcatcaa ctccctttgt caagaatcaa
     4861 attcacaggt aaagaatgtg aagactccca actcgtgtct cacttgatga gctgcaagaa
     4921 aggaagagta gccatttcac catttgtttg tctttcgggg aacacagata atgatttgct
     4981 tcgaccagag actatcaacc aggtcatcct gcgcacagtc ggtgttagtg gcactcaggc
     5041 tcctctgctg tggccatgga aattagataa ccgaggaagg agaatgccac taaatgcata
     5101 tgtgctcaat ttctataaac acaactgctt gacaagatta gaccaaaaaa atgggatgcg
     5161 tatgggacag cttttaaagt gtttgaaaga ttttgcattc aacattcagg ctatcagtga
     5221 ctccttgagt gaactatgtg aaaataagcg tgacaatgta gtcctggcat ttaaacaatt
     5281 gagtcaaacc ttttatgaga aacttcaaga aatgcaaatt caaatgagtc aaaatcattt
     5341 agaataacac catggaaaac tttcaagtct gattatgtgg tatttatccc tttgcaagga
     5401 gagatataat taagcttaca caatgaaatg gaaaaaatgt ttgtcttgga gtcaaacaga
     5461 attaaactca gatatcagct ctgctatttt ctaactgaat gactttaagt tatgtaatat
     5521 atctgagctt taacttcatt tttggcaaaa ccggagtaaa aatgaatacc tctagttgtt
     5581 ttgaggatta aatgagataa tgtaagaaaa gtgattggga ttgggtggtg acttaatgaa
     5641 cggtagtggt ttttttagta gttaatgtat agcaaaatta gtttcacatt gtcaagtttt
     5701 caatacatcc ccaagttaat tgaattttaa attaatgatc aataaatcac aaaggaccca
     5761 aatcaattct gaacaacaat ttagttatgt aagaagactt ctgagattac aagaaactca
     5821 ctgctgtgga ctggatgttt gtgccctccc ctccaaaatt tttatattga aattctaacc
     5881 ctcaatgtga tggtattagg agatgatagg tcatgagggt ggagctcctt ggatgtaatt
     5941 agtgccttta acagagagac aagagagctt gttctccaat ctctgctcac taccactgga
     6001 tgatacaatg ggaagatggc catctgcaga ccaagaagca agccctcaac agaactgaat
     6061 ctacttacac catgatcttg aactttccag cctccaggat tgtgagaaat acatgtttgt
     6121 tgtttagcca tctagtctgt ggttttctgt tgaagcagtc tgaattgact aaaacagtca
     6181 cttggagtag ttataaacca ctttcctgtt gaaagcagaa catgctgatt caactgtttt
     6241 gttcaatagc aatgatagat tttgtttaag tcccctacac tttcttattt ctaaatgatc
     6301 aagagtacac ttcctggcag tgattaagga gtgtgtatct aacagaaaaa atatatatac
     6361 cctgtgaacc cgaatatgga attcagattg tttctgccct cagtatcata cttaaaaaac
     6421 aagcatacaa acaaacataa gggaacaaac agcaaccata acaaaaacaa acctttaaag
     6481 gtgcgttttt gctgtgataa atgaatacgg tactctgaag gagaaaaaag tttctcaaat
     6541 gagcttaaac tgcaagtgat ttaaaaatta gagaatataa ttcttaaagc tattgaaagt
     6601 ttcaaccaga aaacctcaag tgaattttgt atgtaaatga aatcttgaat gtaagttctg
     6661 tgattcttta agcaaacaat tagctgaaaa cttggtattg ttgtagttta tgtagtaagt
     6721 gacttggcac ccatcagaaa ataaagggca ttaaattga
//
LOCUS       NM_001012968            4105 bp    mRNA    linear   PRI 28-SEP-2023
DEFINITION  Homo sapiens spindlin family member 4 (SPIN4), mRNA.
ACCESSION   NM_001012968
VERSION     NM_001012968.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4105)
  AUTHORS   Zhang X, Thielert M, Li H and Cravatt BF.
  TITLE     SPIN4 Is a Principal Endogenous Substrate of the E3 Ubiquitin Ligase
            DCAF16
  JOURNAL   Biochemistry 60 (9), 637-642 (2021)
   PUBMED   33636084
REFERENCE   2  (bases 1 to 4105)
  AUTHORS   Bae N, Gao M, Li X, Premkumar T, Sbardella G, Chen J and Bedford MT.
  TITLE     A transcriptional coregulator, SPIN.DOC, attenuates the coactivator
            activity of Spindlin1
  JOURNAL   J Biol Chem 292 (51), 20808-20817 (2017)
   PUBMED   29061846
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AL833314.1, SRR6380201.92858.7
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000374884.3/ ENSP00000364018.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL158203.12.
            On May 17, 2019 this sequence version replaced NM_001012968.2.
FEATURES             Location/Qualifiers
     source          1..4105
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq11.1"
     gene            1..4105
                     /gene="SPIN4"
                     /gene_synonym="TDRD28"
                     /note="spindlin family member 4"
                     /db_xref="GeneID:139886"
                     /db_xref="HGNC:HGNC:27040"
                     /db_xref="MIM:301113"
     misc_feature    508..510
                     /gene="SPIN4"
                     /gene_synonym="TDRD28"
                     /note="upstream in-frame stop codon"
     CDS             514..1263
                     /gene="SPIN4"
                     /gene_synonym="TDRD28"
                     /codon_start=1
                     /product="spindlin-4"
                     /protein_id="NP_001012986.2"
                     /db_xref="CCDS:CCDS43964.1"
                     /db_xref="GeneID:139886"
                     /db_xref="HGNC:HGNC:27040"
                     /db_xref="MIM:301113"
                     /translation="MSPPTVPPMGVDGVSAYLMKKRHTHRKQRRKPTFLTRRNIVGCRI
                     QHGWKEGNEPVEQWKGTVLEQVSVKPTLYIIKYDGKDSVYGLELHRDKRVLALEILPER
                     VPTPRIDSRLADSLIGKAVEHVFEGEHGTKDEWKGMVLARAPVMDTWFYITYEKDPVLY
                     MYTLLDDYKDGDLRIIPDSNYYFPTAEQEPGEVVDSLVGKQVEHAKDDGSKRTGIFIHQ
                     VVAKPSVYFIKFDDDIHIYVYGLVKTP"
     misc_feature    634..783
                     /gene="SPIN4"
                     /gene_synonym="TDRD28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q56A73.1);
                     Region: Tudor-like domain 1. /evidence=ECO:0000255"
     misc_feature    868..1017
                     /gene="SPIN4"
                     /gene_synonym="TDRD28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q56A73.1);
                     Region: Tudor-like domain 2. /evidence=ECO:0000255"
     misc_feature    895..897
                     /gene="SPIN4"
                     /gene_synonym="TDRD28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q56A73.1);
                     Region: Histone H3K4me3 and H3R8me2a binding.
                     /evidence=ECO:0000250|UniProtKB:Q9Y657"
     misc_feature    988..990
                     /gene="SPIN4"
                     /gene_synonym="TDRD28"
                     /note="Histone H3K4me3 and H3R8me2a binding.
                     /evidence=ECO:0000250|UniProtKB:Q9Y657; propagated from
                     UniProtKB/Swiss-Prot (Q56A73.1); other site"
     misc_feature    1021..1023
                     /gene="SPIN4"
                     /gene_synonym="TDRD28"
                     /note="Histone H3K4me3 and H3R8me2a binding.
                     /evidence=ECO:0000250|UniProtKB:Q9Y657; propagated from
                     UniProtKB/Swiss-Prot (Q56A73.1); other site"
     misc_feature    1114..1251
                     /gene="SPIN4"
                     /gene_synonym="TDRD28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q56A73.1);
                     Region: Tudor-like domain 3. /evidence=ECO:0000255"
     misc_feature    1222..1230
                     /gene="SPIN4"
                     /gene_synonym="TDRD28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q56A73.1);
                     Region: Histone H3K4me3 and H3R8me2a binding.
                     /evidence=ECO:0000250|UniProtKB:Q9Y657"
     regulatory      4081..4086
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPIN4"
                     /gene_synonym="TDRD28"
                     /note="hexamer: AATAAA"
     polyA_site      4105
                     /gene="SPIN4"
                     /gene_synonym="TDRD28"
                     /note="major polyA site"
ORIGIN
        1 agagtgaagc caagccagct agcgctgcga agcccaggcc gcgcggactc cccagagact
       61 tgccgccgcc tgcgcctttg ccgctgcagc catccctctt actccttgcc tttcgtcccc
      121 gtcgtctcct ctgccgccgt gccgcagccg caccagcatc gacaacagct aagtggccga
      181 ttcggggact tggggtcggg gttggggcgg acgcaaggca cgaacagcac tcgcgagccc
      241 gccatctcta cgtcagccgc cactgctgca gtaacccttc tagggcgaga gaggaaagca
      301 ctgtggagag gcacacgctg tcccagtgct cacggttaga gttcgagcgt ttctgccaaa
      361 accttggtga gagccttgca cttggagaag ggagcacaga ccaggtcttt gagatcgcaa
      421 aaaatatata tatcatattg catagtgttg actttttgtc agtttaatcg accagggcag
      481 cagctttccc caagccctct taatccctga gctatgtctc ctccaaccgt gcctccgatg
      541 ggggtagatg gcgtgtccgc atacctgatg aagaaaaggc acacccacag gaagcaacgg
      601 cgcaagccca ctttcctcac tcgtaggaac atcgtgggct gccgcattca acacggctgg
      661 aaggaaggca acgagccagt ggagcagtgg aagggtactg tgctcgagca ggtttccgtg
      721 aagcccactc tttacatcat taaatatgat ggcaaagata gtgtgtatgg actagaactg
      781 caccgcgata agagagtttt agcgctagag atccttcctg agagagtgcc aactcctcgt
      841 atcgattcac gactggcaga ttccctgatt ggcaaggcag tggagcatgt gtttgaaggt
      901 gaacatggta ccaaggatga atggaagggt atggtcctgg cgcgagctcc tgtgatggat
      961 acttggtttt acatcaccta cgagaaagat cctgttctct atatgtacac gctgcttgat
     1021 gactacaaag atggtgactt acgcattatt ccagattcca actactattt ccctacagca
     1081 gaacaggagc ctggagaggt ggtcgacagt ctcgtgggca agcaggtgga gcatgccaaa
     1141 gatgacgggt ccaagagaac tggcattttt atacatcaag tggtggcgaa gccatctgtt
     1201 tacttcatta agtttgatga tgatattcac atttatgtct atggtttggt gaaaactcct
     1261 taaattcttt gtgctcttta gagaagttgt ggatctgtta gatgtgaatt attttgtgtt
     1321 ctcgtagttg tgaacgcaga gaagagttta ggtgtcagaa attcaggaaa gtggataaat
     1381 tttattgtgc caacaaatct taccttgact agtttcacaa ttttgcctca agtgtacttt
     1441 gctacttttg atattgcctt gttctgtaac ttaacagtta aattgggtgc taatagaaaa
     1501 ttaaaaagtg tttgcaacca ttggaacaat gcaaaaatag attaagaaaa attaatggtg
     1561 taaacccaca ccccgtcctt accccttcct ttccttacct tgtttcttcc cagaaaacaa
     1621 gtgttgagga tgcgaagtac atccttccac ctattttccc catcttcatg cagaaagtat
     1681 gttctagtag tttctgtaaa aatggcaagc cacatgcttt tctcacttga catgtagatg
     1741 atatctcttc ttatcagtag cttcagtctt tcttgctctc tctggctctc tctggccctc
     1801 actcttactc tcttgcactc ttgctctccc cctccctccc ttactctaac agctgaatac
     1861 acagtacttg ttgatgtacc aaaaaggcat tcaaccattt cgttattgat cgtcttttat
     1921 ttcctttttt tatttttttt caaaataaca ctgctgtaat acatactggt gcttttattt
     1981 atataggttg gattcccaga aatactatgt aggcatatgt ttcagaaata ttacaagatt
     2041 actatccaaa atgaaagcgc ccgttccagc gtcctctcca gcactcttta atgcttgaaa
     2101 atatgaaagg ctaaaaattg cattgtattg cttgttagtt taattgcctt ttgtctgagt
     2161 tcaaagaggt ttgttgttgt tgctgtcctt gtttctgttt ggatttttct ctgatttgcc
     2221 tgttcttacc ctttgctcat gtatctattg atgtttttca ttataaattt gtagaaattc
     2281 ttactacata gtgcatatta atcatttgta gctctaatgt gttatgacgt tttcatcttg
     2341 actttattga tgatatattt tcctttaaaa tttttaaact ttttaggtag acccttatct
     2401 cttttataga ttttggtttc ctttttttat cacatggatg cccccaccca aagtcataca
     2461 aatattcacc tacattttct tctaataact ttattatttt taatgtttaa atgtttgatc
     2521 catctgaaat ttatttttgt atatggtgta agatggggat ccagctataa cattttgttc
     2581 acattggata cctgattgtg acatttattt aaaatgttac ccattttcaa atttctgagc
     2641 caatatcatg atttaattat agtggcttca tcgtaagttt tagaatccga taaagcaagt
     2701 cccacttcat tagttttttt tttctttata taatatgtcc tagacattca ttttttcatg
     2761 tgaaaaaatg aaatgcagaa ttttaataaa attctaatta tgatggctga catcacaatt
     2821 aaaatcctgc atttttgttt agagggctct ttaataatat taaatcttag cactcaagag
     2881 tcttcgtaca tcattgaaat cttttggtct tgttattgga atattcttca cgtaagtata
     2941 tcatagctaa ctgaatttat ttctaagtat ttttacagtt ttatttcata ttttgacatt
     3001 gtgaattggt ttttttcttc tcatttgtaa ttagctattt ttgacaatat agacaaccta
     3061 tagatttttg tatttttatc ttctgtctaa tgagcttatt taatcattga aattacagta
     3121 gatttttaag aatataatat tttgggtttt ctagatatga aattatttca cctgaacata
     3181 tagatcattt tatttcctct taatgtttat actgattact gttacattag ctggattttt
     3241 caaaacaatg ttgaagagtg atgacagacg tgactgtctt gttcttaatt ttcatggaag
     3301 taagaatgca aaatattaat agggaatagt attccctatt agtatgacat ttacttttgg
     3361 ttattagtag gtagtcatta acatgtttaa gagtttccgc tattcctgtt ttatagtgtt
     3421 attgctagaa gtggttcctg aattttataa aatgcctttt cagcatctat tgataaaatt
     3481 gtatgatttt ttttctcttt aatttgttga tgtaatgaat tagaatggta ggcatttgat
     3541 gtggaaccaa acttgtattt ctggaacaaa tactacttgg tcattgtgaa ataatgattt
     3601 gctacatgag tggattttat ttaccagtat ttaatttaga attattgcat tttcattcca
     3661 aagtaaaatt gtattttgtc cttctgatgc tatctttatc aagttttgtt attgaagttg
     3721 tgctagcttt aaaaaaatat gaatatgtga gttttcaatt tttttcctgt ggtctggaat
     3781 aatttaaata gcattagaat tatttgtttg ttaaaagtta gctaggacaa agtgtaaaac
     3841 aatctaatcc tgatgacact tttaatagta gatttttaat cagctttgtg atttctttaa
     3901 tagttattgg tttattcagg ctttttatta aaaaggtata tacattctct gtgacataca
     3961 aagttaaaag ttctctatta ttgctgattg tactggttgt tgcttgttga ctgtactatt
     4021 cagatggctt tatgcttttg tgtattttat gtcacctaga tctaattctg aaaacattgt
     4081 aataaaataa ttagctataa tggta
//
LOCUS       NM_001012970            1151 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens sperm microtubule inner protein 3 (SPMIP3), transcript
            variant 1, mRNA.
ACCESSION   NM_001012970
VERSION     NM_001012970.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1151)
  AUTHORS   Leung MR, Zeng J, Wang X, Roelofs MC, Huang W, Zenezini Chiozzi R,
            Hevler JF, Heck AJR, Dutcher SK, Brown A, Zhang R and
            Zeev-Ben-Mordehai T.
  TITLE     Structural specializations of the sperm tail
  JOURNAL   Cell 186 (13), 2880-2896 (2023)
   PUBMED   37327785
REFERENCE   2  (bases 1 to 1151)
  AUTHORS   Forno E, Lasky-Su J, Himes B, Howrylak J, Ramsey C, Brehm J,
            Klanderman B, Ziniti J, Melen E, Pershagen G, Wickman M, Martinez F,
            Mauger D, Sorkness C, Tantisira K, Raby BA, Weiss ST and Celedon JC.
  TITLE     Genome-wide association study of the age of onset of childhood
            asthma
  JOURNAL   J Allergy Clin Immunol 130 (1), 83-90 (2012)
   PUBMED   22560479
REFERENCE   3  (bases 1 to 1151)
  AUTHORS   David SP, Hamidovic A, Chen GK, Bergen AW, Wessel J, Kasberger JL,
            Brown WM, Petruzella S, Thacker EL, Kim Y, Nalls MA, Tranah GJ, Sung
            YJ, Ambrosone CB, Arnett D, Bandera EV, Becker DM, Becker L, Berndt
            SI, Bernstein L, Blot WJ, Broeckel U, Buxbaum SG, Caporaso N, Casey
            G, Chanock SJ, Deming SL, Diver WR, Eaton CB, Evans DS, Evans MK,
            Fornage M, Franceschini N, Harris TB, Henderson BE, Hernandez DG,
            Hitsman B, Hu JJ, Hunt SC, Ingles SA, John EM, Kittles R, Kolb S,
            Kolonel LN, Le Marchand L, Liu Y, Lohman KK, McKnight B, Millikan
            RC, Murphy A, Neslund-Dudas C, Nyante S, Press M, Psaty BM, Rao DC,
            Redline S, Rodriguez-Gil JL, Rybicki BA, Signorello LB, Singleton
            AB, Smoller J, Snively B, Spring B, Stanford JL, Strom SS, Swan GE,
            Taylor KD, Thun MJ, Wilson AF, Witte JS, Yamamura Y, Yanek LR, Yu K,
            Zheng W, Ziegler RG, Zonderman AB, Jorgenson E, Haiman CA and
            Furberg H.
  TITLE     Genome-wide meta-analyses of smoking behaviors in African Americans
  JOURNAL   Transl Psychiatry 2 (5), e119 (2012)
   PUBMED   22832964
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HY042088.1, SRR5189667.242397.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000308105.5/ ENSP00000311218.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC054479.1, HY055397.1, BX099227.1 and AL645465.15.
            On May 17, 2019 this sequence version replaced NM_001012970.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1151
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..1151
                     /gene="SPMIP3"
                     /gene_synonym="C1orf100"
                     /note="sperm microtubule inner protein 3"
                     /db_xref="GeneID:200159"
                     /db_xref="HGNC:HGNC:30435"
     CDS             114..557
                     /gene="SPMIP3"
                     /gene_synonym="C1orf100"
                     /note="isoform 1 is encoded by transcript variant 1;
                     uncharacterized protein C1orf100; sperm associated
                     microtubule inner protein 3; protein SPMIP3"
                     /codon_start=1
                     /product="protein SPMIP3 isoform 1"
                     /protein_id="NP_001012988.1"
                     /db_xref="CCDS:CCDS31079.1"
                     /db_xref="GeneID:200159"
                     /db_xref="HGNC:HGNC:30435"
                     /translation="MTAIRLREFIERRPVIPPSIFIAHQGRDVQGYYPGQLARLHFDHS
                     AKRAPRPLIDLTIPPKTKYHYQPQLDQQTLIRYICLRRHSKPAEPWYKETTYRRDYSLP
                     FYEIDWNQKLATVSLNPRPLNSLPELYCCEERSSFERNAFKLK"
     regulatory      548..553
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPMIP3"
                     /gene_synonym="C1orf100"
                     /note="hexamer: ACTAAA"
     polyA_site      576
                     /gene="SPMIP3"
                     /gene_synonym="C1orf100"
                     /note="major polyA site"
ORIGIN
        1 actctgcagt tgatccagca gcaggaggca gctgtaccca tcactgtcct cagagtactt
       61 ttaagaacaa ggaggtctct gcccacggca gcccaagcag attcccatcc atcatgactg
      121 ccatccgact acgagaattt attgagcgtc gcccagtgat cccgccaagt atattcatcg
      181 ctcaccaagg aagagacgtt caaggctatt accctgggca gctggcaaga ctccattttg
      241 atcatagtgc aaagagagct cccagaccgc tcatagactt gacaattcca cccaagacaa
      301 aatatcacta tcagcctcaa ttagaccaac aaacactcat tcgatatatt tgtcttcgaa
      361 gacattcaaa gcctgccgag ccatggtata aagaaaccac ttaccgacga gactattctc
      421 tgccatttta tgagattgat tggaaccaga aattagccac agtttcgctg aatcctcgac
      481 cgcttaattc actgccagag ctctactgtt gtgaagagag aagcagcttt gaaagaaatg
      541 cttttaaact aaaataacca cggcattcga acaaaataac gtttggcatt cttaggtggc
      601 ccttttagac taagttaatg gcagcagaac tactttcagt ttcagtgtgt atacagatgg
      661 ctataatcct aaaatattta catgttgcaa attctttgca gattaagttg gtcagcttag
      721 aacagggaat caagatctat ccttaagaga acttgaattt aagccccact cccagtctta
      781 ttgctgatgc tggcaagcta tcttacattt aggccaatgt atacgcagga tcaggtaaga
      841 agatcattgt gtctgcacaa taattgcatc gctgttggga aaaataaaaa aaagaaccgg
      901 ggggacatgg ccaattataa agaaaactgg cactggagac cctcaagggg ctctggatgg
      961 agaaacccag gtgtagcctg aggctgtagc gagatgtggg actgataaaa aggattaact
     1021 gagagtctgt gtccaggagt tagcacccct atcttggcaa gaagaaagcc tgacaactag
     1081 gcatcagctc ctcaggcaga aagctaaagg gtcttctcta gggagaggaa agaatcccaa
     1141 aggaaaaaaa c
//
LOCUS       NM_001012971             663 bp    mRNA    linear   PRI 28-JAN-2023
DEFINITION  Homo sapiens family with sequence similarity 209 member A (FAM209A),
            mRNA.
ACCESSION   NM_001012971
VERSION     NM_001012971.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 663)
  AUTHORS   Castaneda JM, Shimada K, Satouh Y, Yu Z, Devlin DJ, Ikawa M and
            Matzuk MM.
  TITLE     FAM209 associates with DPY19L2, and is required for sperm acrosome
            biogenesis and fertility in mice
  JOURNAL   J Cell Sci 134 (21) (2021)
   PUBMED   34471926
REFERENCE   2  (bases 1 to 663)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 663)
  AUTHORS   Cai DC, Fonteijn H, Guadalupe T, Zwiers M, Wittfeld K, Teumer A,
            Hoogman M, Arias-Vasquez A, Yang Y, Buitelaar J, Fernandez G,
            Brunner HG, van Bokhoven H, Franke B, Hegenscheid K, Homuth G,
            Fisher SE, Grabe HJ, Francks C and Hagoort P.
  TITLE     A genome-wide search for quantitative trait loci affecting the
            cortical surface area and thickness of Heschl's gyrus
  JOURNAL   Genes Brain Behav 13 (7), 675-685 (2014)
   PUBMED   25130324
REFERENCE   4  (bases 1 to 663)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   5  (bases 1 to 663)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   6  (bases 1 to 663)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN,
            Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden
            JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM,
            Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor
            S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh
            VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry
            D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R,
            Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay
            H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce
            CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore
            N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC,
            Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL,
            Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM,
            Bentley DR, Beck S and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BU738481.1, HY010699.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371328.5/ ENSP00000360379.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL109806.22.
            On Nov 26, 2019 this sequence version replaced NM_001012971.3.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..663
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.31"
     gene            1..663
                     /gene="FAM209A"
                     /gene_synonym="C20orf106; dJ1153D9.3"
                     /note="family with sequence similarity 209 member A"
                     /db_xref="GeneID:200232"
                     /db_xref="HGNC:HGNC:16100"
     CDS             66..581
                     /gene="FAM209A"
                     /gene_synonym="C20orf106; dJ1153D9.3"
                     /note="uncharacterized protein C20orf106; protein FAM209A"
                     /codon_start=1
                     /product="protein FAM209A precursor"
                     /protein_id="NP_001012989.2"
                     /db_xref="CCDS:CCDS33493.1"
                     /db_xref="GeneID:200232"
                     /db_xref="HGNC:HGNC:16100"
                     /translation="MWTLKSSLVLLLCLTCSYAFMFSSLRQKTSEPQGKVQYGEHFRIR
                     QNLPEHTQGWLGSKWLWLLFVVVPFVILQCQRDSEKNKEQSPPGLRGGQLHSPLKKKRN
                     ASPNKDCAFNTLMELEVELMKFVSKVRNLKRAMATGSGSNLRLRKSEMPADPYHVTICE
                     IWGEESSS"
     sig_peptide     66..122
                     /gene="FAM209A"
                     /gene_synonym="C20orf106; dJ1153D9.3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     123..578
                     /gene="FAM209A"
                     /gene_synonym="C20orf106; dJ1153D9.3"
                     /product="Protein FAM209A. /id=PRO_0000264155"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JX71.1)"
     misc_feature    222..284
                     /gene="FAM209A"
                     /gene_synonym="C20orf106; dJ1153D9.3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JX71.1);
                     transmembrane region"
     misc_feature    306..386
                     /gene="FAM209A"
                     /gene_synonym="C20orf106; dJ1153D9.3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JX71.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 agtctcccag ttgcgagggc aagcaaaccc gtcatgagca actcccttcc ccatctctgc
       61 tcaccatgtg gacgctgaaa tcgtccctgg tcctgcttct gtgcctcacc tgcagctatg
      121 cctttatgtt ctcttctctg agacagaaaa ctagcgaacc ccaggggaag gtgcaatacg
      181 gagagcactt tcggattcgg cagaatctac cagagcacac ccaaggctgg cttgggagca
      241 aatggctctg gcttcttttt gttgttgtgc cgtttgtgat actgcagtgt caaagagaca
      301 gtgagaagaa taaggagcag agtcctcctg gccttcgagg cggccaactt cactctccat
      361 taaagaaaaa aagaaatgct tcccccaaca aagactgtgc attcaatacc ttaatggaac
      421 tcgaggtgga gcttatgaaa tttgtgtcca aagtgcggaa tcttaaacgt gccatggcaa
      481 caggtagtgg cagtaacctc aggcttcgaa agtcagagat gcctgcagat ccataccatg
      541 tcacgatctg tgaaatatgg ggagaagaaa gctctagctg aatggatttg tgtgtcagga
      601 gagaaaaaag ttgagtgttg acaaactgta tgcaaactaa taaaactatt ctgaagaaaa
      661 gaa
//
LOCUS       NM_001012973             776 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens placenta associated 9 (PLAC9), transcript variant 1,
            mRNA.
ACCESSION   NM_001012973
VERSION     NM_001012973.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 776)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 776)
  AUTHORS   Ouyang C, Pu YZ, Qin XH, Shen J, Liu QH, Ma L and Xue L.
  TITLE     Placenta-specific 9, a putative secretory protein, induces G2/M
            arrest and inhibits the proliferation of human embryonic hepatic
            cells
  JOURNAL   Biosci Rep 38 (6) (2018)
   PUBMED   30291214
  REMARK    GeneRIF: Plac9 is a novel protein that is localized to the cytoplasm
            and may be secreted through the classic endoplasmic reticulum-Golgi
            route. The overexpression of Plac9 inhibits cell growth and induces
            G2/M phase arrest. Conclusion: Our findings reveal a novel role for
            Plac9 in regulating cell growth. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 776)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage
            AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G,
            Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T,
            Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S,
            Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T,
            Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N,
            Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall
            M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL,
            Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm
            L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   4  (bases 1 to 776)
  AUTHORS   Galaviz-Hernandez C, Stagg C, de Ridder G, Tanaka TS, Ko MS,
            Schlessinger D and Nagaraja R.
  TITLE     Plac8 and Plac9, novel placental-enriched genes identified through
            microarray analysis
  JOURNAL   Gene 309 (2), 81-89 (2003)
   PUBMED   12758124
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BM768761.1, BM798972.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000372263.4/ ENSP00000361337.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356095.11.
            On May 17, 2019 this sequence version replaced NM_001012973.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..776
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.3"
     gene            1..776
                     /gene="PLAC9"
                     /note="placenta associated 9"
                     /db_xref="GeneID:219348"
                     /db_xref="HGNC:HGNC:19255"
                     /db_xref="MIM:612857"
     CDS             34..327
                     /gene="PLAC9"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; placenta-specific protein 9; placenta specific 9"
                     /codon_start=1
                     /product="placenta-specific protein 9 isoform 1 precursor"
                     /protein_id="NP_001012991.1"
                     /db_xref="CCDS:CCDS31232.1"
                     /db_xref="GeneID:219348"
                     /db_xref="HGNC:HGNC:19255"
                     /db_xref="MIM:612857"
                     /translation="MRPLLCALTGLALLRAAGSLAAAEPFSPPRGDSAQSTACDRHMAV
                     QRRLDVMEEMVEKTVDHLGTEVKGLLGLLEELAWNLPPGPFSPAPDLLGDGF"
     sig_peptide     34..102
                     /gene="PLAC9"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      429..434
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLAC9"
                     /note="hexamer: AATAAA"
     polyA_site      447
                     /gene="PLAC9"
                     /note="major polyA site"
     regulatory      747..752
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLAC9"
                     /note="hexamer: ATTAAA"
     polyA_site      776
                     /gene="PLAC9"
ORIGIN
        1 agacgcggcg ctgcgctcgg ccaggccggc accatgcggc ccctgctctg cgcgctgacc
       61 ggactggccc tgctccgcgc cgcgggctct ttggccgctg ccgaaccctt cagccctccg
      121 cgaggagact cagctcagag cacagcgtgt gacagacaca tggctgtgca acgccgtcta
      181 gatgtcatgg aggagatggt agagaagacc gtggatcacc tggggacaga ggtgaaaggc
      241 ctgctgggcc tgctggagga gctggcctgg aacctgcccc cgggaccctt cagccccgct
      301 cccgaccttc tcggagatgg cttctgagcc ctggagctgg agcccagcag ttggaggtgg
      361 tgcacctgcc aggcagcgcc cacagaacca gccctgtcct ctcgacttcc ttccttagct
      421 tcatgtgaaa taaaagctat tctggtctcc tctgtgtctg ctgacagagt aacccgttta
      481 actacagcct cctctcactc cacttccatg cctggaggaa gcctgcaacc ccctccaggc
      541 tcagacctgg ggacaccccc actcctgtca tttatagggg cagatggagc aggggttgat
      601 tcacacagat gggggccctt tgagtggcct tgcttctcaa aatgtggcca taggtgaaaa
      661 gcaaggggat cagggtctca ggacccaccc agactgttta atccaaatct gcattgcaat
      721 gagaccccca gggattttat gtgtccatta aagtggtttg ttgttgtttt taaaaa
//
LOCUS       NM_001012974            1782 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens leucine rich repeat containing 73 (LRRC73), transcript
            variant 1, mRNA.
ACCESSION   NM_001012974
VERSION     NM_001012974.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1782)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1782)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC108661.1, SRR14038194.189467.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968189, SAMEA1968540
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000372441.2/ ENSP00000361518.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355802.13.
            On Jul 7, 2021 this sequence version replaced NM_001012974.3.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1782
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..1782
                     /gene="LRRC73"
                     /gene_synonym="C6orf154"
                     /note="leucine rich repeat containing 73"
                     /db_xref="GeneID:221424"
                     /db_xref="HGNC:HGNC:21375"
     misc_feature    157..159
                     /gene="LRRC73"
                     /gene_synonym="C6orf154"
                     /note="upstream in-frame stop codon"
     CDS             562..1512
                     /gene="LRRC73"
                     /gene_synonym="C6orf154"
                     /note="isoform 1 is encoded by transcript variant 1;
                     leucine-rich repeat-containing protein 73"
                     /codon_start=1
                     /product="leucine-rich repeat-containing protein 73 isoform
                     1"
                     /protein_id="NP_001012992.1"
                     /db_xref="CCDS:CCDS34456.1"
                     /db_xref="GeneID:221424"
                     /db_xref="HGNC:HGNC:21375"
                     /translation="MLPSSIQISGEPLSGAEVRDICRGLRDNAVRLLSLRGCRLCDRDF
                     GRICRALAGATSLAQLNLNLGVVSSPSRIKQLAEALRTNRSIQSLFLHGSPLTDAGLAL
                     LNPALALHPALVALDLGDCMLGDEAINLICGLLPPDGAKSGLKELTLSANPGITPKGWS
                     RLAIAVAHSSQVRVLNLDYNPLGDHVAGMLAVAVASSRTLEVLDLEGTGLTNQSAQTLL
                     DMVENYPTALRSLVLAENSISPELQQQICDLLSEGEEEEEVAGGAGDTQEWERGREPAA
                     HQRGSSSWMCPSDPSSQMVLMTSGLGDSLLAETEM"
     misc_feature    730..795
                     /gene="LRRC73"
                     /gene_synonym="C6orf154"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD7.1);
                     Region: LRR 1"
     misc_feature    817..879
                     /gene="LRRC73"
                     /gene_synonym="C6orf154"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD7.1);
                     Region: LRR 2"
     misc_feature    901..972
                     /gene="LRRC73"
                     /gene_synonym="C6orf154"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD7.1);
                     Region: LRR 3"
     misc_feature    994..1059
                     /gene="LRRC73"
                     /gene_synonym="C6orf154"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD7.1);
                     Region: LRR 4"
     misc_feature    1081..1122
                     /gene="LRRC73"
                     /gene_synonym="C6orf154"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD7.1);
                     Region: LRR 5"
     misc_feature    1165..1230
                     /gene="LRRC73"
                     /gene_synonym="C6orf154"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD7.1);
                     Region: LRR 6"
     misc_feature    1252..1311
                     /gene="LRRC73"
                     /gene_synonym="C6orf154"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD7.1);
                     Region: LRR 7"
     misc_feature    1330..1449
                     /gene="LRRC73"
                     /gene_synonym="C6orf154"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTD7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     polyA_site      1782
                     /gene="LRRC73"
                     /gene_synonym="C6orf154"
                     /note="major polyA site"
ORIGIN
        1 ctctggagct ggagccggag ctgccgccag ccgcccgcct caggctctct ctgccagccg
       61 tgcggccagg cccgcggggt ggtcgggggg agccgggcgg cagagaagga gggagcgggt
      121 acggcctcct agccgagacc ggtaagccga agcccttgag ccgctcgctg ccgctgccgc
      181 cgccgccgcc gcgaccgcga gggacaagga caagcgccga gcagcgcctg cccaaccccc
      241 ggaacgcgca cccgccccaa cgcccagaca cggaccgtgc gggccgcccc cgccccagcg
      301 ccgccccact tcagcccggc ccgcgccctg gacgcctccg cacctctggc cggctccggc
      361 tcagtcccgg tagctcttct ccgcccccgc cgcagcctcc gccgcagccg cagcctccgc
      421 cacagccgcc gcctccaccc ccggccccac tccgcccgcg acccctgccg gggccccgac
      481 cccggcccta tccccggccc cgcccgcggc cccaccaacc tccgttccgg ccccgtaccc
      541 ggaggcccag ccgtgggcac gatgctgccc agctccatcc agatttcggg ggagccgctg
      601 tccggcgccg aggtgcggga catctgccgc ggccttcgcg acaacgccgt gcgcctgctc
      661 tcactgcgcg gctgccgcct ctgcgaccgc gactttggcc gcatctgccg ggccctggcc
      721 ggggccacgt ccctggcgca gctcaacctt aacctgggcg tcgtgtccag ccccagccgc
      781 atcaagcagc tggctgaggc tctgcggacc aaccgctcca tccagtccct cttcctgcat
      841 gggagccccc tgacagatgc ggggctggcc ttgctgaacc cagccctggc cctccaccct
      901 gccctcgtgg ctctggacct gggggactgc atgctgggtg atgaagccat caacctcatc
      961 tgtggcctcc tgcccccaga tggggccaaa tctggcttga aggagctaac gctgagtgcc
     1021 aaccctggca tcacccctaa gggctggagc cgccttgcca ttgccgtggc ccacagctcc
     1081 caggtccgcg tcctcaatct ggattacaac cccctgggtg accatgtggc aggaatgctg
     1141 gctgtagctg tggcctctag tcgtacccta gaggtcctag acttggaggg cacagggctc
     1201 accaaccagt cagctcagac cctgctggac atggtagaaa attaccccac agctttgcgg
     1261 agcctggtgt tggctgagaa cagcattagc ccagagctgc agcaacagat ctgtgacctc
     1321 ctctctgagg gagaggagga ggaggaagtg gcaggagggg ctggcgacac ccaggaatgg
     1381 gagagagggc gggagcctgc tgcccaccag agaggcagca gctcctggat gtgccccagc
     1441 gatcccagct ctcagatggt gctaatgacg tcaggactag gggacagtct gttggctgag
     1501 accgagatgt gactctccac tgggcctctg cacaccattt cacttatcta tgtcccgagc
     1561 accttgcccc agatatcagg gtcaggccct gggacttggg agggaactgg ggtcaggggc
     1621 tgcatggggg ctctggcagc tcctggcagt gtggtgggaa ggaagctctg gaagctgtga
     1681 ctgagcaaca gccttggggg gcacttgaac ccacggcaat gcctttgaac ttggcagctc
     1741 tggctgcaac ccgctggctc ggaaaagatt ttatgaactc ca
//
LOCUS       NM_001012977            2237 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens poly(A) binding protein cytoplasmic 1 like 2A
            (PABPC1L2A), mRNA.
ACCESSION   NM_001012977
VERSION     NM_001012977.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2237)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: SRR3476690.102894.1, BI599244.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000373519.1/ ENSP00000362618.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL662864.15.
            On May 17, 2019 this sequence version replaced NM_001012977.2.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2237
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.2"
     gene            1..2237
                     /gene="PABPC1L2A"
                     /gene_synonym="RBM32A"
                     /note="poly(A) binding protein cytoplasmic 1 like 2A"
                     /db_xref="GeneID:340529"
                     /db_xref="HGNC:HGNC:27989"
     CDS             127..729
                     /gene="PABPC1L2A"
                     /gene_synonym="RBM32A"
                     /note="RNA binding motif protein 32A; RNA-binding protein
                     32; RNA-binding motif protein 32"
                     /codon_start=1
                     /product="polyadenylate-binding protein 1-like 2"
                     /protein_id="NP_001012995.1"
                     /db_xref="CCDS:CCDS35334.1"
                     /db_xref="GeneID:340529"
                     /db_xref="HGNC:HGNC:27989"
                     /translation="MASLYVGDLHPEVTEAMLYEKFSPAGPILSIRICRDKITRRSLGY
                     AYVNYQQPVDAKRALETLNFDVIKGRPVRIMWSQRDPSLRKSGVGNVFIKNLGKTIDNK
                     ALYNIFSAFGNILSCKVACDEKGPKGYGFVHFQKQESAERAIDVMNGMFLNYRKIFVGR
                     FKSHKEREAERGAWARQSTSADVKDFEEDTDEEATLR"
     misc_feature    634..726
                     /gene="PABPC1L2A"
                     /gene_synonym="RBM32A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQF8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2217..2222
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PABPC1L2A"
                     /gene_synonym="RBM32A"
                     /note="hexamer: ATTAAA"
     polyA_site      2237
                     /gene="PABPC1L2A"
                     /gene_synonym="RBM32A"
                     /note="major polyA site"
ORIGIN
        1 gcggatgcgg atgcggatgc gaaggtggcg gccgaggtgg cggccgaggt ggcggctgcg
       61 gcggccgccg cggatgcaga tgcggatgag accctcggtg actgtgaggg gaacccagat
      121 tttcagatgg cctccctgta cgtgggcgac ctgcaccctg aggtgaccga ggcaatgctg
      181 tacgagaagt tcagtccagc tgggcccatc ctctccatcc gcatctgcag ggacaagatc
      241 acccgccgct cattgggcta cgcgtatgtc aactaccagc aaccggtgga cgccaagcgg
      301 gccctggaga ccctgaactt tgatgtcata aagggcaggc cagtgcgcat catgtggtcc
      361 cagagggacc cgtcgctccg caagagcggg gtgggcaacg tcttcatcaa gaacctgggc
      421 aagaccatcg acaacaaggc gctgtacaac atcttctcgg cgttcggcaa catcctctcc
      481 tgcaaagtgg cctgtgacga aaaggggccc aagggctacg ggttcgtgca cttccaaaag
      541 caggaatctg cggagcgggc catcgatgtg atgaatggca tgttcctgaa ctaccgcaaa
      601 attttcgtcg ggagattcaa gtcgcataaa gaacgagagg ccgaaagggg agcctgggcc
      661 aggcagtcca ctagtgctga cgtcaaggat ttcgaggaag acaccgacga ggaggccacc
      721 ttgcgatgaa gacatcccag gagctagcca gccagcagag ccaaaccttg gctcacaccc
      781 ggtttacaac cccccacccc cagccctccc ccgccaaccc accagcagtg tatttattgt
      841 attgagagtg caggtctctc tctctctctc tctccccttc tctctccccg cttcctattt
      901 tctccctcca cctctcctct ccttcccttc ctctcccccg cccaccccca ccaagggcgt
      961 tgtgaataat cttactaatc tgtgccattt gtaggttaaa ggctgcctct tctccctgtg
     1021 gtttgattta aaaagcattt tcattctctc tttgtttact gcacaggtgg tacaatttca
     1081 tggtagaatc atcagaaagg agaaggatat cagatgaggg aagaaacaag agagtaattg
     1141 ctcccctggt cctactcccc agagagaacc acttttacct ttttggtgtg ctgcttttcc
     1201 aggctctctt ctctccctct ctctcctttg ctcaccccca ccccgccttc ccttttaaca
     1261 caccgttata gaatggttca tgtatgtggt gtttcttaac ctgctttttc agcaactaaa
     1321 accaaacaaa aatcaaccca ttgaacttct ttccatgtta tcaacaggct tatgaaacgt
     1381 catcttcagt gcctgcagag tgctccagtg tatccgtgga ccttaacatt tctgtaatca
     1441 ttcccgcatt gttggacatt caggtggtgc ctagttcttt ccctgtgttt aagaccaaca
     1501 ttgcgtgctc tgtgctttga tgagtgaatc cttccttgtc aagccaaatc tttgctagca
     1561 tcccggtggt ctccttaact gcggacttgc aagatccaca tatagacatt ttaaagactt
     1621 ttcctgtgtg ttgccaaaag gcccccttca taagcattgt accgatttgc actcgtgccg
     1681 gccagcgcag ctagtaaaga gtatgcccgt ttcccctgca tagtctcctg gtcactgtaa
     1741 ttgatcgtgt gtgtgcgtgc gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt cttggccagc
     1801 ttggcgggct acaaagggtg tttcgctgtc ctcggtagtt ttgctggaaa caaacactgc
     1861 ttatgacccc attcccctgt gccctcttcc tgtccttttc cctgttgtca gaaaagtaat
     1921 tcagcgtcat tgcaagaaaa aaaaatcaca aagcagacaa gttaccagaa gaaaattaaa
     1981 gtcaccagta atcatttctg atgattacac acacattcca gaaacatttt catgcacacc
     2041 tctctgatat tttctagaac tacctgaaac atttttgtct gtaggtctag tttttttctt
     2101 atgcatatat catatatgta tattatgatg tacagactgt ttttatatct gcttttcaca
     2161 catacatgtg tgtgtatatt tatacacaca catattcttg aacttcattt catgtcatta
     2221 aagatacttt taaaata
//
LOCUS       NM_001012978             777 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens brain expressed X-linked 5 (BEX5), transcript variant
            1, mRNA.
ACCESSION   NM_001012978
VERSION     NM_001012978.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 777)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 777)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 777)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 777)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (bases 1 to 777)
  AUTHORS   Zhang L.
  TITLE     Adaptive evolution and frequent gene conversion in the brain
            expressed X-linked gene family in mammals
  JOURNAL   Biochem Genet 46 (5-6), 293-311 (2008)
   PUBMED   18236150
REFERENCE   6  (bases 1 to 777)
  AUTHORS   Winter EE and Ponting CP.
  TITLE     Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism
            sustained by gene conversion events
  JOURNAL   BMC Evol Biol 5, 54 (2005)
   PUBMED   16221301
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 777)
  AUTHORS   Alvarez E, Zhou W, Witta SE and Freed CR.
  TITLE     Characterization of the Bex gene family in humans, mice, and rats
  JOURNAL   Gene 357 (1), 18-28 (2005)
   PUBMED   15958283
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.182594.1,
            SRR5189652.45374.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000333643.4/ ENSP00000328030.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC106955.2 and AY833564.1.
            On Nov 22, 2018 this sequence version replaced NM_001012978.2.
            Transcript Variant: This variant (1) represents the shorter
            transcript. Both variants 1 and 2 encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..777
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     gene            1..777
                     /gene="BEX5"
                     /gene_synonym="NGFRAP1L1"
                     /note="brain expressed X-linked 5"
                     /db_xref="GeneID:340542"
                     /db_xref="HGNC:HGNC:27990"
                     /db_xref="MIM:300693"
     misc_feature    182..184
                     /gene="BEX5"
                     /gene_synonym="NGFRAP1L1"
                     /note="upstream in-frame stop codon"
     CDS             224..559
                     /gene="BEX5"
                     /gene_synonym="NGFRAP1L1"
                     /note="BEX family member 5; NGFRAP1-like 1; nerve growth
                     factor receptor-associated protein 2; NGFRAP1-like protein
                     1; brain-expressed X-linked protein 5"
                     /codon_start=1
                     /product="protein BEX5"
                     /protein_id="NP_001012996.1"
                     /db_xref="CCDS:CCDS35350.1"
                     /db_xref="GeneID:340542"
                     /db_xref="HGNC:HGNC:27990"
                     /db_xref="MIM:300693"
                     /translation="MENVPKENKVVEKAPVQNEAPALGGGEYQEPGGNVKGVWAPPAPG
                     FGEDVPNRLVDNIDMIDGDGDDMERFMEEMRELRRKIRELQLRYSLRILIGDPPHHDHH
                     DEFCLMP"
     misc_feature    224..334
                     /gene="BEX5"
                     /gene_synonym="NGFRAP1L1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H9J7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      758..763
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BEX5"
                     /gene_synonym="NGFRAP1L1"
                     /note="hexamer: AATAAA"
     polyA_site      777
                     /gene="BEX5"
                     /gene_synonym="NGFRAP1L1"
                     /note="major polyA site"
ORIGIN
        1 agttgcagtc tggtagttgt cgctggccgt gtgacggctc gctgttgccc tgaaggcagg
       61 cgagccagct gcccaggaaa ggtggaaagt ggtagaagct gacccctgag ccctggcagg
      121 tctttaagtg cgtttgtgca gccgatttca aggctaagag agaaagactg cctctgatcc
      181 ctgaaggaag aaaaaaaaaa aaaaaacagg aaaaaaactc aacatggaaa atgtccccaa
      241 ggaaaacaaa gttgtggaga aggccccagt gcagaatgaa gcccccgctt taggaggtgg
      301 tgaataccag gagcctggag gaaatgttaa aggggtttgg gctccacctg ccccgggttt
      361 tggagaggat gtgcccaata ggcttgtcga taacattgat atgatagatg gagatggaga
      421 tgatatggaa cggttcatgg aggagatgag agagctaagg aggaaaatta gggaacttca
      481 gttgaggtac agtctgcgca ttcttatagg ggaccctcct caccatgatc atcatgatga
      541 gttttgcctt atgccttgaa tcttgaggtt aataatcata aaatccctgc tttctaaatt
      601 cgcatttttc ctggtgtacc tttaatgtga accttttggc attcttctgc aattttctga
      661 ttggagattg cattttgacc tagtctgtaa gtttttctgt cagaagagga ctttcatcaa
      721 ctttcatgga aagatgttta ttgcatactg taaagttaat aaagcaattt aaaagca
//
LOCUS       NM_001012979            1046 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens transcription elongation factor A like 5 (TCEAL5),
            mRNA.
ACCESSION   NM_001012979
VERSION     NM_001012979.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1046)
  AUTHORS   Miyamoto-Sato E, Fujimori S, Ishizaka M, Hirai N, Masuoka K, Saito
            R, Ozawa Y, Hino K, Washio T, Tomita M, Yamashita T, Oshikubo T,
            Akasaka H, Sugiyama J, Matsumoto Y and Yanagawa H.
  TITLE     A comprehensive resource of interacting protein regions for refining
            human transcription factor networks
  JOURNAL   PLoS One 5 (2), e9289 (2010)
   PUBMED   20195357
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1046)
  AUTHORS   Winter EE and Ponting CP.
  TITLE     Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism
            sustained by gene conversion events
  JOURNAL   BMC Evol Biol 5, 54 (2005)
   PUBMED   16221301
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1046)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer
            M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL,
            Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME,
            Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R,
            Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson
            A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler
            DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S,
            Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker
            GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O,
            Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman
            AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P,
            Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel
            L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z,
            Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S,
            Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS,
            Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O,
            Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H,
            Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T,
            Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis
            F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner
            G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R,
            Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S,
            Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume
            J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de
            Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis
            P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK,
            Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM,
            Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J,
            Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl
            P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S,
            Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN,
            Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S,
            Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey
            Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG,
            Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD,
            Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann
            RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K,
            Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M,
            Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry
            GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey
            DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L,
            Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S,
            Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A,
            Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM,
            Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R,
            Hubbard T, Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1103294.1,
            SRR3476690.716689.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000372680.2/ ENSP00000361765.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM725918.1, BC132924.1 and
            Z68694.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001012979.2.
            Summary: This gene, which is located on the X chromosome, encodes a
            protein which contains a BEX (brain expressed X-liked like family)
            domain. This domain is found in proteins encoded by the TCEAL
            elongation factor (transcription elongation factor A (SII)-like)
            gene family also located on the X chromosome. The coding region for
            this gene is located entirely in the terminal exon. [provided by
            RefSeq, Sep 2011].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1046
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     gene            1..1046
                     /gene="TCEAL5"
                     /gene_synonym="WEX4"
                     /note="transcription elongation factor A like 5"
                     /db_xref="GeneID:340543"
                     /db_xref="HGNC:HGNC:22282"
     misc_feature    105..107
                     /gene="TCEAL5"
                     /gene_synonym="WEX4"
                     /note="upstream in-frame stop codon"
     CDS             174..794
                     /gene="TCEAL5"
                     /gene_synonym="WEX4"
                     /note="TCEA-like protein 5; transcription elongation factor
                     S-II protein-like 5; transcription elongation factor A
                     (SII)-like 5"
                     /codon_start=1
                     /product="transcription elongation factor A protein-like 5"
                     /protein_id="NP_001012997.1"
                     /db_xref="CCDS:CCDS35356.1"
                     /db_xref="GeneID:340543"
                     /db_xref="HGNC:HGNC:22282"
                     /translation="MEKLYKENEGKPENERNLESEGKPEDEGSTEDEGKSDEEEKPDME
                     GKTECEGKREDEGEPGDEGQLEDEGNQEKQGKSEGEDKPQSEGKPASQAKPESQPRAAE
                     KRPAEDYVPRKAKRKTDRGTDDSPKDSQEDLQERHLSSEEMMRECGDVSRAQEELRKKQ
                     KMGGFHWMQRDVQDPFAPRGQRGVRGVRGGGRGQKDLEDVPYV"
     misc_feature    174..791
                     /gene="TCEAL5"
                     /gene_synonym="WEX4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H9L2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1021..1026
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TCEAL5"
                     /gene_synonym="WEX4"
                     /note="hexamer: AATAAA"
     polyA_site      1046
                     /gene="TCEAL5"
                     /gene_synonym="WEX4"
                     /note="major polyA site"
ORIGIN
        1 accagatccc tgtttccgtg gaggaaggca gacttcagac tgaaggacag agaaggcaac
       61 tgccctacag ccctgcaggt cttcaagtct gtggttgtgg gcactaaccc agacaagaaa
      121 aggaaagacc tgcagtatcg gtgcaggaaa ggcaaagaag ggaacatctc aacatggaaa
      181 agctctacaa agaaaatgaa ggaaagccag agaatgaaag aaacctagaa agtgagggaa
      241 agccagagga tgagggaagt acagaagatg aaggaaagtc agacgaggaa gaaaagccgg
      301 acatggaggg gaagacagaa tgcgagggaa agcgagagga tgagggagag ccaggtgatg
      361 agggacaact ggaagatgag ggaaaccagg aaaagcaggg caagtctgaa ggtgaggaca
      421 agccacaaag tgagggcaag ccagcctccc aggccaagcc agagagccag ccgcgggccg
      481 ccgaaaagcg cccggctgaa gattatgtgc cccggaaagc aaaaagaaaa accgacaggg
      541 ggacggacga ttcccccaag gactctcagg aggacttaca agaaaggcat ctgagcagtg
      601 aggagatgat gagagaatgt ggagatgtgt caagggctca ggaggagcta aggaaaaaac
      661 agaaaatggg tggttttcat tggatgcaaa gagatgtaca ggatccattc gccccaaggg
      721 gccaacgggg tgtgagggga gtgaggggcg gaggtagggg ccagaaagac ttagaagatg
      781 tcccatatgt ttaatgtctt tggcctttaa ttctgatttc tctgatggga atattgccag
      841 tcctgctttt cctggcaggc atttgccggc ctatgtgctt taaccttaag ctgatacttt
      901 cctttaggtg tcactcttgt taccagcaga cttttgaccc aactacagtg ctctgtcttt
      961 tagtagagga ttttcaccca tgtgcatgga ataaatgttc atggtacatt gtaaaataac
     1021 aataaaaaag agttttcaga accatg
//
LOCUS       NM_001012981            7437 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2),
            mRNA.
ACCESSION   NM_001012981
VERSION     NM_001012981.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7437)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX648785.1, SRR1803616.11760.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000328086.12/ ENSP00000331626.7
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008741.7, DB120548.1, BX648785.1 and BC130007.1.
            On Nov 23, 2018 this sequence version replaced NM_001012981.4.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7437
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.1"
     gene            1..7437
                     /gene="ZKSCAN2"
                     /gene_synonym="ZNF694; ZSCAN31; ZSCAN34"
                     /note="zinc finger with KRAB and SCAN domains 2"
                     /db_xref="GeneID:342357"
                     /db_xref="HGNC:HGNC:25677"
     misc_feature    701..703
                     /gene="ZKSCAN2"
                     /gene_synonym="ZNF694; ZSCAN31; ZSCAN34"
                     /note="upstream in-frame stop codon"
     CDS             719..3622
                     /gene="ZKSCAN2"
                     /gene_synonym="ZNF694; ZSCAN31; ZSCAN34"
                     /note="zinc finger protein 694; zinc finger and SCAN domain
                     containing 31"
                     /codon_start=1
                     /product="zinc finger protein with KRAB and SCAN domains 2"
                     /protein_id="NP_001012999.3"
                     /db_xref="CCDS:CCDS32410.1"
                     /db_xref="GeneID:342357"
                     /db_xref="HGNC:HGNC:25677"
                     /translation="MAVALDSQIDAPLEVEGCLIMKVEKDPEWASEPILEGSDSSETFR
                     KCFRQFCYEDVTGPHEAFSKLWELCCRWLKPEMRSKEQILELLVIEQFLTILPEKIQAW
                     AQKQCPQSGEEAVALVVHLEKETGRLRQQVSSPVHREKHSPLGAAWEVADFQPEQVETQ
                     PRAVSREEPGSLHSGHQEQLNRKRERRPLPKNARPSPWVPALADEWNTLDQEVTTTRLP
                     AGSQEPVKDVHVARGFSYRKSVHQIPAQRDLYRDFRKENVGNVVSLGSAVSTSNKITRL
                     EQRKEPWTLGLHSSNKRSILRSNYVKEKSVHAIQVPARSAGKTWREQQQWGLEDEKIAG
                     VHWSYEETKTFLAILKESRFYETLQACPRNSQVYGAVAEWLRECGFLRTPEQCRTKFKS
                     LQKSYRKVRNGHMLEPCAFFEDMDALLNPAARAPSTDKPKEMIPVPRLKRIAISAKEHI
                     SLVEEEEAAEDSDDDEIGIEFIRKSEIHGAPVLFQNLSGVHWGYEETKTFLDILRETRF
                     YEALQACHRKSKLYGAVAEQLRECGFLRTPEQCRTKFKSLQKSYRKVKNGHVLESCAFY
                     KEMDALINSRASAPSPSTPEEVPSPSRQERGGIEVEPQEPTGWEPEETSQEAVIEDSCS
                     ERMSEEEIVQEPEFQGPPGLLQSPNDFEIGSSIKEDPTQIVYKDMEQHRALIEKSKRVV
                     SQSTDPSKYRKRECISGRQWENLQGIRQGKPMSQPRDLGKAVVHQRPFVGKRPYRLLKY
                     GESFGRSTRLMCRMTHHKENPYKCGVCGKCFGRSRSLIRHQRIHTGEKPFKCLDCGKSF
                     NDSSNFGAHQRIHTGEKPYRCGECGKCFSQSSSLIIHQRTHTGEKPYQCGECGKSFTNS
                     SHFSAHRRVHTGENPYKCVDCEKSFNNCTRFREHRRIHTGEKPYGCAQCGKRFSKSSVL
                     TKHREVHVREKPLPHPPSLYCPENPHKGKTDEFRKTF"
     misc_feature    1166..1333
                     /gene="ZKSCAN2"
                     /gene_synonym="ZNF694; ZSCAN31; ZSCAN34"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63HK3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2474..2596
                     /gene="ZKSCAN2"
                     /gene_synonym="ZNF694; ZSCAN31; ZSCAN34"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63HK3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2489..2491
                     /gene="ZKSCAN2"
                     /gene_synonym="ZNF694; ZSCAN31; ZSCAN34"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q63HK3.2); phosphorylation site"
     misc_feature    2516..2518
                     /gene="ZKSCAN2"
                     /gene_synonym="ZNF694; ZSCAN31; ZSCAN34"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q63HK3.2); phosphorylation site"
     misc_feature    3539..3619
                     /gene="ZKSCAN2"
                     /gene_synonym="ZNF694; ZSCAN31; ZSCAN34"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63HK3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      7394..7399
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZKSCAN2"
                     /gene_synonym="ZNF694; ZSCAN31; ZSCAN34"
                     /note="hexamer: AATAAA"
     regulatory      7407..7412
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZKSCAN2"
                     /gene_synonym="ZNF694; ZSCAN31; ZSCAN34"
                     /note="hexamer: AATAAA"
     polyA_site      7416
                     /gene="ZKSCAN2"
                     /gene_synonym="ZNF694; ZSCAN31; ZSCAN34"
                     /note="major polyA site"
     polyA_site      7437
                     /gene="ZKSCAN2"
                     /gene_synonym="ZNF694; ZSCAN31; ZSCAN34"
ORIGIN
        1 agcgcccccc gcgctctccg cgggccgagt ggacgaggcc gaacgcgagc agcctgccgc
       61 tgccccctgc gagccctggc ttcgccccgc agctcttctc ccttccgggc ggaacagttt
      121 ttgcggcctt tcctcggcgg cagcggtttc ctcaggacgg tcggggccgt cgtgggcccg
      181 aaagagcccg gcgccgctct cggaatccgg cggccccagc ggcacccgcg gcggcctgga
      241 cgtgctgcgg tgacccgagc ccggaacctg gcgccgggcg gggcctgcac atccggcccc
      301 acccactcgg ggactcgcct ctccgcgccc gacccgggag tagcggacac accccctccc
      361 ggcccggctg tccgcctccg cccagccttt cctcagcctg cttcattttt ctcccagtcg
      421 tccagcctcc cggtttccga ctttgcacta agagggatgc actctggaaa accacattgc
      481 gcggtcacat cttgtttgga gaagaggcca ggcttttgca tcttagagta tacgttcacc
      541 ttttcaaggg cctggcatag atttgattaa tcagcctgga ataccctgtt cctgccgacc
      601 tggccgtttt tacctccgta ccttatcaca ctcccaggaa cattaagcag ggagcgcttg
      661 gagtcttctt tgggtcccca ccttgagcta gacgtgaagt tgacccctgg gctgcagcat
      721 ggctgtcgcc ctcgactctc agatcgacgc gcccctggag gttgagggat gcctaataat
      781 gaaggtggaa aaggaccctg agtgggcatc agagcccatt ctggaaggat cggatagctc
      841 tgagaccttc cgcaaatgct tcaggcaatt ctgttatgag gatgtgactg gaccccatga
      901 agctttcagt aaactctggg aactttgctg ccggtggctg aagccagaaa tgcgttccaa
      961 ggagcaaata cttgagctgc tggtgattga gcagtttctc accattttac ccgagaagat
     1021 tcaggcttgg gcacagaagc agtgtccgca aagtggagag gaagcggtgg ccctggtagt
     1081 gcatttggag aaagagactg gaagactaag acagcaggtc agcagtcccg tgcaccggga
     1141 gaagcactcc ccacttggag cagcgtggga ggtggcagac ttccagccag agcaggtgga
     1201 gacccaaccc agggcggtgt ctcgggagga acctggaagc ctccactcag gacaccagga
     1261 acagctgaac cgaaagcgag aacgtcggcc cttacccaag aatgctcggc cttctccctg
     1321 ggttcctgcc cttgctgatg aatggaatac cctagatcag gaagtgacaa ccacacggct
     1381 tcctgctggg tcccaggaac cagtgaaaga tgtccacgtg gccagaggct tttcctacag
     1441 aaagagtgtg catcagattc ctgcccaaag ggacctctac cgggatttca ggaaggagaa
     1501 tgttgggaac gtggtctccc tgggaagtgc agtgtctaca tctaacaaga taacccggtt
     1561 ggaacagaga aaggagccat ggactctagg tctgcattcc tctaacaaga gaagtatcct
     1621 acgaagcaac tacgtcaagg aaaagtcagt tcatgctatt caggtccctg caaggagtgc
     1681 aggaaaaaca tggagagagc agcagcagtg gggtttagaa gatgaaaaga tagcaggtgt
     1741 gcattggagc tatgaggaaa caaagacttt cctggcaatt ctcaaagagt ctcgctttta
     1801 tgaaacactt caggcctgtc cccgaaatag ccaagtgtat ggtgctgtgg ctgaatggtt
     1861 gcgagaatgt ggcttcctta gaaccccaga acagtgtcga accaagttca aaagtctcca
     1921 gaaaagctat cgaaaggtga gaaatggcca catgctagaa ccctgcgcct tctttgagga
     1981 catggatgct ttgttgaacc ctgcagcccg tgctccgtcc actgataaac caaaggagat
     2041 gatacctgtc cccagactga agagaattgc catcagtgct aaggaacaca tcagcttggt
     2101 ggaggaggag gaagctgcag aagattctga tgatgatgaa ataggcatcg aatttatccg
     2161 caagtctgaa atccatggtg cccctgtctt gtttcagaat ctcagtggcg tgcactgggg
     2221 ctatgaagaa accaagactt ttcttgatat cctccgtgag actcggtttt atgaagcgct
     2281 tcaagcctgt catcggaaga gcaaattgta tggggctgta gctgaacagc ttcgagagtg
     2341 cggcttcctc cggacaccag aacagtgccg aaccaagttc aaaagccttc agaagagtta
     2401 ccgcaaggtg aaaaatggcc acgtgctaga gtcctgcgcg ttctacaagg agatggatgc
     2461 cctgattaac tctcgggcat ctgctccttc ccccagcacc ccagaggaag tcccatcacc
     2521 ttcaaggcaa gaaagagggg gtattgaggt tgaaccccag gaacctacag gctgggaacc
     2581 tgaagagacc tcacaggagg cagtaataga agactcttgc agtgagagaa tgagcgagga
     2641 ggaaattgtg caagagccag agttccaggg acctccaggt ctactgcaga gcccaaatga
     2701 ttttgaaatc ggaagtagca tcaaggagga tccaacacag atagtatata aggacatgga
     2761 acagcatagg gcattaatag aaaagtctaa aagagttgtt tcccagagta ccgaccccag
     2821 caaatatcgc aaaagggaat gcatctcagg aagacaatgg gaaaatcttc aaggaattag
     2881 acagggaaag ccgatgtctc agcctagaga tttagggaaa gccgttgtgc atcagaggcc
     2941 ttttgtgggg aagagaccct acagacttct caaatatgga gaaagctttg gaaggagcac
     3001 tcgtctgatg tgccggatga cccaccacaa ggagaatcct tacaagtgtg gtgtctgtgg
     3061 gaagtgcttt ggtagaagca ggagcctgat cagacaccaa agaatccaca caggcgaaaa
     3121 accttttaaa tgtcttgact gtggaaaaag ctttaatgac tcctcaaatt ttggtgccca
     3181 ccagagaatc cacacaggag agaaacccta cagatgcgga gagtgtggaa aatgctttag
     3241 tcagagctct agtcttatta tacatcagag aacgcacacc ggtgagaagc cctatcagtg
     3301 tggagagtgt gggaaaagtt tcaccaacag ttctcatttc agcgcccacc ggagagttca
     3361 cactggggag aatccctaca aatgtgtgga ctgtgaaaaa agtttcaata actgtacgag
     3421 atttcgagaa catcggagaa tacacactgg agagaagccc tatggatgtg cccagtgtgg
     3481 caaacgtttc agtaagagtt ctgttcttac caaacatcgg gaagttcatg tgagagaaaa
     3541 gcctctgcca caccctccat ctctgtattg ccctgagaac ccacataagg gaaagactga
     3601 tgaatttagg aaaacttttt gatgatgatc ttctcttcct aaatgccccc ttagccattt
     3661 taccctaatc tcattcttgg aagcaatctt ttcttagcta tgaagtgtaa tttccaagat
     3721 aaacttgaga atataaataa actaaacact ttcatcctgt tctcacctct gcctctaact
     3781 tcatcagtct gttcctcctc ttctgtgtgt ctcagcttct cctttaagaa tgtggcgaag
     3841 atacattgtc cgagttcaga atgaaatacc cttcagtaca ttgaggccac tgcaactgga
     3901 ttgctaagtt cggcaacatt caagatcttc catatgggtg agagttgtct tcaaggatat
     3961 aaaaaatgcc aaaagttttt ttgttgttat tacctactcc gtgagatcct ggatgaaact
     4021 tgataacaga ttttcacatt tagatagaac tttgaggagt ctgatcggaa ctacatcaaa
     4081 tccatcttgg ttttgaagag atccacaaaa gaagagtgaa gattttatag ctttcctcag
     4141 aagtctgtta cagtgtacct tttttttttt ttttgtcaag aagttgatcc aaatagctag
     4201 ggcagaatcc ctgtattgtc actgaaatcc tgttactaat gccttgccct ccatggaggt
     4261 gagaagcaat tgatcacccc tcatcctttt ctgtacccga agacttaaat cccctggctg
     4321 ctgcttctcc agcctataag taatcccagg tcctcctact gtttctcata gccctgcact
     4381 tgcctctcag ttgctctggg tgctcctgcc ggcctcttcc gaactaccat gccctcctca
     4441 gatagaatag gaggcctgct cgtggtgtgt ctcactaaag caaagtagga tttcagatgc
     4501 gttctagttc tatcctctaa cttctctggc tcttatctag aacatgactg gcatgttggc
     4561 atatttcgta cctcccaccc ctgcactgca gtataatatt ataatagtgt ttctaaaact
     4621 ttaaggggat agggaagagg taatagacac ctgaagcatt tctaagacca gttggactcc
     4681 tttggcctgc tgtcgatcag atagccacct cagcttagac cagcgctctc aggtctggct
     4741 gttaaatctc ccagtctctt ttcctgaggc ttctagtccc tgttcaccgc atcagaaacc
     4801 taactgtagt gtgccaagta acttaacaca actctagagc tcactgggtg aaaagtggga
     4861 acatttataa aaacttcaat ccagaaatcc agaacaccgt ttttgttttc ctcatttact
     4921 tgttttgtct gaaaaatctc tttgagaacc cccggcagta acccagtaaa cactgaagga
     4981 aaagttctga tgggggatgg ttaattgact tttgaagtta cagatgaaac ccagagattt
     5041 gattttccat ggccagttgc ttcaggatgg agtcagtggc gtttattccc ttagtatgta
     5101 ggtgacccag ggtggctttg ctttggcaag ggagaagtca caagtttaat gggaagggaa
     5161 ccggagttag ggctgtttgt gggtgattat tttgctcttc tctctccctt tctttgtcaa
     5221 atgctcttat ttgaagccat ctggaaatga tatttttcct tttggtatgt ttcaatcttt
     5281 tgaaacttgt tcagcaaagt acctaggagg gtaggcactg tagaaagaaa tctaatttat
     5341 ggtgccagaa tagggtgtgg cctgttggaa ggcaggtgac tcaggtagac attgataaat
     5401 gtttctgatt tacatttgtt ggaaatatta tgactgttca catctcaata ggttgatttt
     5461 tctgtgttgt ccaagttata gatttctaat gctaagtaca gttccatgtt ggtagtgtgc
     5521 gtagcacagt aagatgtttg tggtgccagt gggcttgtgt ttatattgtg tagatgttct
     5581 ggaattccag ctctagagaa gatgtaaatt aatagaaatc accacttaat aatatgtaca
     5641 caggattgat attatgtgga agcatgattc aggaaagtag atgacttatt cataaatatg
     5701 aagcactgtt acatgtaagg ccatgttcta gccacagtga atgatagaaa aaggaaggaa
     5761 ggggcatggt gcctgggctc aaggaactca cagtttgata gaggaagcat cacagcaaaa
     5821 gttggggcca cttacaccat ggcagttaca gaaggccagg agctcagtca tgagaacatc
     5881 accttcccct gcagaagagt tgcgctaagt tgcccagaat catattctgt accttcatct
     5941 ctcaaccttc cccagtggca ggaaagggtc aagcaagacc cattccctct ctagtgggac
     6001 aaactgattc tgtttaactc tcatatgcct gggagcaagc tgaggtggaa tttgggttcc
     6061 cctatctcta ctcctaattg taaatgggct gtctagacat gtgttacatt aatttgatga
     6121 actttgttct gaagaaatgg aaggtctccc ccccatttta gaccaacact acctgtctcc
     6181 ctgcatttta tttgttttca cctggtacat gtaagtcaaa atgaataatc atgttctgac
     6241 caatgtgtct tttagatcac ataacattgc ctttatgaag attcatagaa aaaggttttt
     6301 ttatctagat ctcagtgcca aggaaagctc tgatcctaag cgcagtatgt gtacacacac
     6361 acgtctacat gtgtgtgtag atctgtatgt atgtattaca aacactgtga tttttgtaac
     6421 ttaagctgct ttttctctct ttgttctggc tgctggaaag ttcaacaaaa cttacagccc
     6481 acctcaacca actaccccaa cctatattta tttaatttca tcttatttcc ttgtaaattg
     6541 tgtcaaatcc tgtttttgaa aagcagcata gactgacaac ttttcactat catcttatcg
     6601 aaggcatttt ggaaactggg gtcgtatgtc ccacctaggc ttgctttgtt actgccacaa
     6661 atacctccag ttcttaccag tgatgttatt atgcattcaa cctaattcat tcatctggaa
     6721 agaaacagtt ttttaaaaag ggaaacctca cacgtaaatg gctcagggca gcctggcctt
     6781 ggtggaatga gcatgagact ggaagctgaa agaagcaagt tttaatcttg tcactaaatg
     6841 agtgttgttt gacacatcat agcctctctg ggcctcggct cctcatctga agagaagttg
     6901 aacttaactg ctaagttgct ctggctctaa tgtttcatga ggctgtggag cgtgatatag
     6961 atgcggaaga ggttagaaga ccaggctgcc ggcccagctg tcctgtgcct gccacatctg
     7021 gccataccaa atccatcgca tgcttcagga aagggagggg atgctgtgac agcaaactca
     7081 gcccaggagc ttgttgggga aggagaaagg gcaagtccct cgtggtccac agcaggcacc
     7141 ccccaagcac ctcgataacc agtggcaggt aggctgaagt gaaggaagcc tctgtcagga
     7201 ggtctggcgc ccagtgacag acaagacagc tgtgagggag ctggggcagc cctggctaaa
     7261 ggaatgtctg agtaacttgt gaaactggaa gcctctgcct ctgaatgcat tccaagacct
     7321 ggtgcaaatg gatgtccatt cattgttttg tatcagtgtt cacttagatg tcttcttgaa
     7381 aacttgtttg tggaataaat gtctaaaata aatggctccc actggtttct gccataa
//
LOCUS       NM_001012984            1266 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens chromosome 16 open reading frame 86 (C16orf86), mRNA.
ACCESSION   NM_001012984
VERSION     NM_001012984.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1266)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.657716.1,
            SRR3476690.902001.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000403458.9/ ENSP00000384117.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010530.8, BC032064.1 and CA432406.1.
            On Nov 22, 2018 this sequence version replaced NM_001012984.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1266
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..1266
                     /gene="C16orf86"
                     /note="chromosome 16 open reading frame 86"
                     /db_xref="GeneID:388284"
                     /db_xref="HGNC:HGNC:33755"
     misc_feature    2..4
                     /gene="C16orf86"
                     /note="upstream in-frame stop codon"
     CDS             158..1111
                     /gene="C16orf86"
                     /codon_start=1
                     /product="uncharacterized protein C16orf86"
                     /protein_id="NP_001013002.2"
                     /db_xref="CCDS:CCDS32468.2"
                     /db_xref="GeneID:388284"
                     /db_xref="HGNC:HGNC:33755"
                     /translation="MASAGAERRPGVQEATVVGQGQLTEEPGSAQTSECPVAGDQFLVP
                     AHEARGTQSEDQRPAGAASESELQEEGPKLGEERPKPHAGALEERGPRPVVSIVRPRHG
                     PKRKPVKSLSLPGLRAHLKAEAELPPKLPLQEEEPEDSQSEPSPSAKQHKKAKKRKSLG
                     APVLHAVASMVSAPLETLRLERKAQRLRPLYQYVNYCNPELNQAGKGDGEAEVEAEAEL
                     APVPEEGGVEQLQALLPLAGELGPGLALPCPSPLVTPTHALAPLGEEAGEEPGGLPSLG
                     VSDHKAEVDKSTQVDIDKMLSVCTAPLVPPLSPQYK"
     misc_feature    158..649
                     /gene="C16orf86"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZW13.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1244..1249
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C16orf86"
                     /note="hexamer: AATAAA"
     polyA_site      1266
                     /gene="C16orf86"
                     /note="major polyA site"
ORIGIN
        1 gtagtttcgg ccgagggtgg gctccgcggt cgccggtttc tcttcccagc tctgccctcg
       61 cttgctggcc ggtctccggg gtcagcgcgg ggccaccatc cagccccttg gggcccgccc
      121 caagcagctg tcgaggacgc actcagcctg cgcagccatg gcctcggcag gggcggagag
      181 gcggccgggg gtccaggagg cgacggtcgt ggggcaggga cagctcacgg aggagcccgg
      241 cagcgctcag acctccgagt gtccagtggc gggagaccag ttcctggtgc ctgcccatga
      301 ggcccgcgga acccagagtg aagaccagcg cccagcaggc gcagcttcgg agtcggagct
      361 ccaggaggaa ggacccaagc tgggggagga gcggcccaag ccgcatgccg gggcgctaga
      421 ggagagaggc cccaggcccg tggtctccat tgtgaggccc cgtcatggtc caaagagaaa
      481 gcctgtcaag tctctcagcc tcccgggcct tcgtgcccat cttaaggctg aagctgagct
      541 gccacccaag ctgccgctgc aggaggagga gccagaggac agccagagtg agccctcacc
      601 atctgccaaa cagcacaaaa aagccaagaa gcgcaagagc ctgggggctc ccgtgctcca
      661 cgctgtggcc agcatggtgt ctgcaccctt agagacattg aggctggagc gaaaggccca
      721 gcgcctgcgg ccgctgtacc agtacgtcaa ctattgcaac cctgagctga accaggcagg
      781 gaagggggac ggggaggctg aggtggaggc agaggcagag ctggccccgg ttcccgagga
      841 gggaggtgtg gagcaactgc aggccttgct gcccttggca ggtgagctgg gcccaggcct
      901 cgctttgccc tgtcccagtc cactagtgac ccccacccat gccctggctc ccctcggaga
      961 ggaggctgga gaggagcctg ggggcttgcc cagcttgggg gtgagtgacc acaaggccga
     1021 ggtggataag tcaacccagg tggacatcga caagatgctg agtgtctgca ctgctccact
     1081 tgtccccccg ctctctcctc agtacaagtg actgtcccgc cccactggtg gctcccctcc
     1141 ttccacgcct gaatttggct tcaggcttcc tgtgggccta ggccctctgg tggcgggggc
     1201 aaatttggca cctgccccca cttgggactt tggtcttgct gaaaataaat atttttcttt
     1261 ttcaaa
//
LOCUS       NM_001012989            1190 bp    mRNA    linear   PRI 18-JUL-2023
DEFINITION  Homo sapiens ubiquitin conjugating enzyme E2 N like
            (gene/pseudogene) (UBE2NL), transcript variant coding, mRNA.
ACCESSION   NM_001012989
VERSION     NM_001012989.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1190)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (bases 1 to 1190)
  AUTHORS   Li J, Liu F, Wang H, Liu X, Liu J, Li N, Wan F, Wang W, Zhang C, Jin
            S, Liu J, Zhu P and Liu Y.
  TITLE     Systematic mapping and functional analysis of a family of human
            epididymal secretory sperm-located proteins
  JOURNAL   Mol Cell Proteomics 9 (11), 2517-2528 (2010)
   PUBMED   20736409
REFERENCE   3  (bases 1 to 1190)
  AUTHORS   Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C,
            O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M,
            Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J,
            Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M,
            Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P,
            Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R,
            Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer
            AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH,
            Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J,
            Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E,
            Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle
            J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow
            M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA and
            Stratton MR.
  TITLE     A systematic, large-scale resequencing screen of X-chromosome coding
            exons in mental retardation
  JOURNAL   Nat Genet 41 (5), 535-543 (2009)
   PUBMED   19377476
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: GU727624.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            polymorphic pseudogene   :: PMID: 19377476
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL109622.10.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 7, 2023 this sequence version replaced NM_001012989.2.
            Summary: This gene is intronless and encodes a member of the
            ubiquitin-conjugating enzyme family. The protein product is 91%
            identical to ubiquitin-conjugating enzyme E2N, a multi-exon gene
            product. This locus represents a polymorphic pseudogene, where some
            individuals contain an allele that can encode a full-length
            protein, while others have a non-functional allele containing a
            premature stop codon (reference SNP rs237520) that truncates the
            coding sequence. [provided by RefSeq, Jun 2014].
FEATURES             Location/Qualifiers
     source          1..1190
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq27.3"
     gene            1..1190
                     /gene="UBE2NL"
                     /gene_synonym="Li174"
                     /note="ubiquitin conjugating enzyme E2 N like
                     (gene/pseudogene)"
                     /db_xref="GeneID:389898"
                     /db_xref="HGNC:HGNC:31710"
     CDS             31..492
                     /gene="UBE2NL"
                     /gene_synonym="Li174"
                     /EC_number="6.3.2.-"
                     /note="epididymis tissue protein Li 174; ubiquitin
                     conjugating enzyme E2N-like"
                     /codon_start=1
                     /product="putative ubiquitin-conjugating enzyme E2 N-like"
                     /protein_id="NP_001013007.1"
                     /db_xref="GeneID:389898"
                     /db_xref="HGNC:HGNC:31710"
                     /translation="MAELPHRIIKETQRLLAEPVPGIKAEPDESNARYFHVVIAGESKD
                     SPFEGGTFKRELLLAEEYPMAAPKVRFMTKIYHPNVDKLERISLDILKDKWSPALQIRT
                     VLLSIQALLNAPNPDDPLANDVVEQWKTNEAQAIETARAWTRLYAMNSI"
     misc_feature    277..279
                     /gene="UBE2NL"
                     /gene_synonym="Li174"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P61088; propagated from
                     UniProtKB/Swiss-Prot (Q5JXB2.1); acetylation site"
     regulatory      1161..1166
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBE2NL"
                     /gene_synonym="Li174"
                     /note="hexamer: ACTAAA"
     polyA_site      1190
                     /gene="UBE2NL"
                     /gene_synonym="Li174"
                     /note="major polyA site"
ORIGIN
        1 gatgagacca gaggccgaac tcaggttctg atggccgagc tgccccacag gatcatcaag
       61 gaaacccagc gtttgctggc agagccagtt cctggcatca aagcagaacc agatgaaagc
      121 aacgcccgtt attttcatgt ggtcattgct ggggaatcaa aggattcccc ctttgaggga
      181 gggactttta aacgtgaact attacttgca gaagaatacc caatggcagc ccctaaagta
      241 cgtttcatga ccaaaattta tcatccaaat gtagacaagt tggaaagaat aagtttagat
      301 attttgaaag ataagtggtc cccagccctg cagatccgca cagttctgct atcgatccag
      361 gccttgttaa atgctcccaa tccagatgat ccattagcaa atgatgtagt ggagcagtgg
      421 aagaccaacg aagcccaagc cattgaaaca gctagagcat ggactaggct atatgccatg
      481 aatagtattt aaattgatcc aatcattaag tgtgcatcac ttctcctgtt ctgccaagac
      541 ttcttccttt ttgcttgcat ttaatggaca tagtcttaga aacattacag aataaaaaaa
      601 cccagacatc ttcagttatt tggtgattaa atgtacatta gcaaatctat gtcttgtcct
      661 gattcactgt cataaagcat gagcagaggc tagacgtatc atccggattg ttgtgaaacg
      721 tttaaaagca gtggtccctc cctgctttta ttcatttccc ccatcctggt ttaagtataa
      781 agcactgtga atgaaggtag ttgtcaggtt agctgcaagg gtgtgggtgt ttttctttat
      841 tttatttttt tgaggggggt aagtagtttt attttaattt tatgggctcc tttccccgcc
      901 tttttggtga tctaattgga ttggttaaaa gcagctaacc agttctttag aaatatgctc
      961 tctatccaag tctaacttta tttagacact gtagatggac aagcttgatt gtttgaacca
     1021 aaatgggaac atttaacaag catcactgcc ctcactaata acattgtgac tttgctgtca
     1081 agtgtagagt ccccccttca aaataagctt gtgaccattt tgtatggctt gtctggaaac
     1141 ttctgtaaat cttatgtttt actaaaatat tttttgttat tgtaaaaaaa
//
LOCUS       NM_001012991            6422 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens lysine rich nucleolar protein 1 (KNOP1), transcript
            variant 2, mRNA.
ACCESSION   NM_001012991
VERSION     NM_001012991.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6422)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 6422)
  AUTHORS   Mattheisen M, Samuels JF, Wang Y, Greenberg BD, Fyer AJ, McCracken
            JT, Geller DA, Murphy DL, Knowles JA, Grados MA, Riddle MA,
            Rasmussen SA, McLaughlin NC, Nurmi EL, Askland KD, Qin HD, Cullen
            BA, Piacentini J, Pauls DL, Bienvenu OJ, Stewart SE, Liang KY, Goes
            FS, Maher B, Pulver AE, Shugart YY, Valle D, Lange C and Nestadt G.
  TITLE     Genome-wide association study in obsessive-compulsive disorder:
            results from the OCGAS
  JOURNAL   Mol Psychiatry 20 (3), 337-344 (2015)
   PUBMED   24821223
REFERENCE   3  (bases 1 to 6422)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein C,
            Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   4  (bases 1 to 6422)
  AUTHORS   Grasberger H and Bell GI.
  TITLE     Subcellular recruitment by TSG118 and TSPYL implicates a role for
            zinc finger protein 106 in a novel developmental pathway
  JOURNAL   Int J Biochem Cell Biol 37 (7), 1421-1437 (2005)
   PUBMED   15833274
REFERENCE   5  (bases 1 to 6422)
  AUTHORS   Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J,
            Mason T, Crosby ML, Barnstead M, Cronin L, Deslattes Mays A, Cao Y,
            Xu RX, Kang HL, Mitchell S, Eichler EE, Harris PC, Venter JC and
            Adams MD.
  TITLE     Genome duplications and other features in 12 Mb of DNA sequence from
            human chromosome 16p and 16q
  JOURNAL   Genomics 60 (3), 295-308 (1999)
   PUBMED   10493829
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.131926.1,
            SRR1803613.254425.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000219837.12/ ENSP00000219837.7
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC002550.1 and BC117562.1.
            On Nov 22, 2018 this sequence version replaced NM_001012991.2.
            Summary: The protein encoded by this gene is a nucleolar protein
            that interacts with zinc finger 106 protein. The encoded protein
            has several of the same characteristics as nucleostemin and may be
            involved in testis development. [provided by RefSeq, Feb 2017].
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (b) is
            shorter at the N-terminus compared to isoform a. Variants 2-6 all
            encode the same isoform (b).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6422
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.3"
     gene            1..6422
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="lysine rich nucleolar protein 1"
                     /db_xref="GeneID:400506"
                     /db_xref="HGNC:HGNC:34404"
     CDS             73..1449
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="isoform b is encoded by transcript variant 2; family
                     with sequence similarity 191, member A; protein C16orf88;
                     testis-specific gene 118 protein"
                     /codon_start=1
                     /product="lysine-rich nucleolar protein 1 isoform b"
                     /protein_id="NP_001013009.2"
                     /db_xref="CCDS:CCDS42127.1"
                     /db_xref="GeneID:400506"
                     /db_xref="HGNC:HGNC:34404"
                     /translation="MITKTHKVDLGLPEKKKKKKVVKEPETRYSVLNNDDYFADVSPLR
                     ATSPSKSVAHGQAPEMPLVKKKKKKKKGVSTLCEEHVEPETTLPARRTEKSPSLRKQVF
                     GHLEFLSGEKKNKKSPLAMSHASGVKTSPDPRQGEEETRVGKKLKKHKKEKKGAQDPTA
                     FSVQDPWFCEAREARDVGDTCSVGKKDEEQAALGQKRKRKSPREHNGKVKKKKKIHQEG
                     DALPGHSKPSRSMESSPRKGSKKKPVKVEAPEYIPISDDPKASAKKKMKSKKKVEQPVI
                     EEPALKRKKKKKRKESGVAGDPWKEETDTDLEVVLEKKGNMDEAHIDQVRRKALQEEID
                     RESGKTEASETRKWTGTQFGQWDTAGFENEDQKLKFLRLMGGFKNLSPSFSRPASTIAR
                     PNMALGKKAADSLQQNLQRDYDRAMSWKYSRGAGLGFSTAPNKIFYIDRNASKSVKLED
                     "
     misc_feature    73..135
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="propagated from UniProtKB/Swiss-Prot (Q1ED39.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    196..198
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17693683,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q1ED39.1); phosphorylation site"
     misc_feature    208..987
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="propagated from UniProtKB/Swiss-Prot (Q1ED39.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    220..222
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q1ED39.1); phosphorylation site"
     misc_feature    403..405
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q1ED39.1); phosphorylation site"
     misc_feature    466..468
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q1ED39.1); phosphorylation site"
     misc_feature    865..867
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q1ED39.1); phosphorylation site"
     misc_feature    988..1446
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="propagated from UniProtKB/Swiss-Prot (Q1ED39.1);
                     Region: Interaction with ZNF106. /evidence=ECO:0000250"
     misc_feature    994..996
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q1ED39.1); phosphorylation site"
     misc_feature    1000..1002
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q1ED39.1); phosphorylation site"
     misc_feature    1078..1137
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="propagated from UniProtKB/Swiss-Prot (Q1ED39.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1360..1362
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q1ED39.1); methylation site"
     regulatory      1976..1981
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="hexamer: AATAAA"
     polyA_site      2007
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="major polyA site"
     regulatory      6388..6393
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
                     /note="hexamer: AATAAA"
     polyA_site      6422
                     /gene="KNOP1"
                     /gene_synonym="101F10.1; C16orf88; FAM191A; TSG118"
ORIGIN
        1 gactcgaagt ggacttccgg gtcacggcgg agctggctct cacgtggagg cggggaaatt
       61 tcgcccaccg gaatgatcac caagacacac aaagtagacc ttgggctccc agagaagaaa
      121 aagaagaaga aagtggtcaa agaaccagag actcgatact cagttttaaa caatgatgat
      181 tactttgctg atgtttctcc tttaagagct acatccccct ctaagagtgt ggcccatggg
      241 caggcacctg agatgcctct agtgaagaaa aagaagaaga aaaagaaggg tgtcagcacc
      301 ctttgcgagg agcatgtaga acctgagacc acgctgcctg ctagacggac agagaagtca
      361 cccagcctca ggaagcaggt gtttggccac ttggagttcc tcagtgggga aaagaaaaat
      421 aagaagtcac ctctagccat gtcccatgcc tctggggtga aaacctcccc agaccctaga
      481 cagggtgagg aggaaaccag agttggcaag aagctcaaaa aacacaagaa ggaaaaaaag
      541 ggggcccagg accccacagc cttctcggtc caggaccctt ggttctgtga ggccagggag
      601 gccagggatg ttggggacac ttgctcagtg gggaagaagg atgaggaaca ggcagccttg
      661 gggcagaaac ggaagcggaa gagccccaga gaacacaatg ggaaggtgaa gaagaaaaaa
      721 aaaatccacc aggagggaga tgccctccca ggccactcca agccctccag gtccatggag
      781 agcagcccta ggaaaggaag taaaaagaag ccagtcaaag ttgaggctcc ggaatacatc
      841 cccataagtg atgaccctaa ggcctccgca aagaaaaaga tgaagtccaa aaagaaggta
      901 gagcagccag tcatcgagga gccagctctg aaaaggaaga aaaagaagaa gaggaaagag
      961 agtggggtag caggagaccc ttggaaggag gaaacagaca cggacttaga ggtggtgttg
     1021 gaaaaaaaag gcaacatgga tgaggcgcac atagaccagg tgaggcgaaa ggccttgcaa
     1081 gaagagatcg atcgcgagtc aggcaaaacg gaagcttctg aaaccaggaa gtggacggga
     1141 acccagtttg gccagtggga tactgctggt tttgagaacg aggaccaaaa actgaaattt
     1201 ctcagactta tgggtggctt caaaaacctg tccccttcgt tcagccgccc cgccagcacg
     1261 attgcaaggc ccaacatggc cctcggcaag aaggcggctg acagcctgca gcagaatctg
     1321 cagcgggact acgaccgggc catgagctgg aagtacagcc ggggagccgg cctcggcttc
     1381 tccaccgccc ccaacaagat cttttacatt gacaggaacg cttccaagtc agtcaagctg
     1441 gaagattaaa ctctagagtt ttgtcccccc aaaactgcca caattgcttt gattattcca
     1501 tttatgctgg agattacaaa ttttttttgt gaaaaaatca gatcttggtg aggacctcga
     1561 gcagtaagat ataaataact cccataagct tagcgttcca gtaatggaac actaggcata
     1621 aatggtttat tcagttgtgc aaatgaaagc catctgacag ttggctcaca ttgaacacct
     1681 gtggagatta aggacgagga caactatatt gatgggcttg gatgaactgg ggcagggcag
     1741 ctcatatttc gggagccagg agaacgagtg agtgctaaaa cctcctgttt tctgtgttaa
     1801 acattccgtc cctgtttgag acatcagtat gtacagttaa cttttgttga gtgtttagca
     1861 ggtactaggg acatactagt gttttcctta atgtatttaa tcttcataat tatgaaatgg
     1921 gtgctattat tagccccatc ttatagatga ggcaactgag gttcagggat aaagtaataa
     1981 aattgcctgg ggtcacccag ccactaagtg cagggtgttg tacttttgta cccgaagccc
     2041 taagttcact attcgccact ctgaatgtcc cctttaggga atttccacca gaatcctcgt
     2101 tggggattga aatgtcttta gatggaggaa aaagttttat gacaagtctg catctctgat
     2161 aaaaagtgga gtgaatgagg aacggagaat cgcaaactcc ttttccttcc ttttcctttc
     2221 ccctgtcata gagcagctgt aggcagagag gtgtctgagt tgttaccaaa cacatgtgac
     2281 tgagctgctg ctgctgggaa atgtgcctct aaaccagtcc tgccttttcc actggtgtcc
     2341 cttcggccct aagtgctgag gtaggatttt tgtgctttga ctggattctg aacaaggcat
     2401 tttaggaaga gtggttagtc ccgcaaatga atcaatggca gatcccaggg acgtgtgtgt
     2461 gtgttttgag ataggctctc actctgtcac ccaggctgga gtgtagtggc atatcacggc
     2521 ttgttgcaac cactacctat ccagcttaag tgatcctccc acctcagcct cccaagtagc
     2581 tgggactgtg ggtgtgcacc acaacaacca gctagtgttt aaaatttttt gtagagatgg
     2641 ggtctcacta tattgtccag gctagtccca aactcctgga ctcaactcat gctcctgcct
     2701 cagcccccaa gagctgggat cacaggtgtg agccactgtg cccagcccca gggatgtgtc
     2761 tgatgagatt cttttttatc acaaggaaga gaatcccagg tgacttctgt aggtggatat
     2821 tgaatgccag gaggagatga acgtgtggag atgacacggg aagttgcctc atcggctgtg
     2881 gggacagcgt ttccaagcct ggactctaca gcaagcctca aagagctcca ggtccagtgg
     2941 cccaagtcgc atgtgaccat ctgtgaccac cttctttcca ctcacctagc tttttgcatc
     3001 ccaaaataca ggttctgact gggacatttt cacgatcgtt tggcctgaac atgcctccta
     3061 cagacatccc agcccaggca ggcctcgatg gccagaaagt tcagtctcac gtggcaggaa
     3121 ggcctgatta gggcctggtt caacagctcg ccaaggaagc attctctcca tcatctccag
     3181 tgttggcttc atcaaggcta gtacaaagat ggcagtaaca gttccaggca gcatatcaag
     3241 accctagaac attccagagg aagaaaagcc tttttgtgtc tcaaggaaac ttccagaagc
     3301 ctccattgct gggcaatgag tcatctgccc atagctgcac ccgcccctgt catgggaagg
     3361 ctggtgattc ccttcagtca agaagagtgg atgctggtga agtggccatg gtgtccacag
     3421 ctgcccattg ggcagaggtg aggcaggcac ttcaggcagt ttccctggct ctgaaccctg
     3481 atccgcaagc attggccagg tcaatagttg gacaagtatg tgctacaagg acctacttgg
     3541 gccacttccc tcaggacgtg aacttgtcct gcctttcttt cctggattca accttgagat
     3601 acataatggg agaggccgtg gaaagcccaa gaggcagtgt tctggatttg agtgagtgcc
     3661 ttctgggcac ctcctccttt gatggagaaa caaatccctc ctgaccttga gcaacactac
     3721 aggaatgtgc ctggtgtaaa caggaaccag ccgttcgttt cttttttttt gagatggagt
     3781 ctcacggtcg cgcaggctgg agtgtggtgg cgtgatctcg gctcattgta acctctgctt
     3841 cctgggttca agcgattctt gtgcctcagt ctcctgagta gctggaatcg gccgtttact
     3901 actcatagtt tttatcttgc caagaggtca ccctgacgtt ggcctgcctt agctctgtta
     3961 aaaaggttgt gctctgccag gtgcggtgac tcacgcctgt aatcccagca ctttgggagg
     4021 ccaaggtggg cggatcacga ggtcaagagt tcgagaccag cctgaccaac atggtgaaac
     4081 cccgtctcta ctaaaaatac aaaaattagc tgggtgggtg tggtgtcacg ggcttgtaat
     4141 cccggctact caggaggctg acaggagaat cgcttgaacc cgggaggtgg aggttgtagt
     4201 gagctgggat ggtgccactg cacactctag ccccgggcaa cagaatgaga ctctgtctca
     4261 aaaacaaaca aaaaaaaact gtctttgggt gattgtggag aggtgatcat atgtccgctg
     4321 tgttgctccc atccaagccc tggtgactgg tagctctcat gagggtgtga tggtcaggcc
     4381 ttgcccctgg tgtaaattct gtctgtaata ggctgtgact ttctaactca acatcaccac
     4441 tggcttagga gttccatttg cacaggggga gctttattgc ttttctatat acataagaac
     4501 tttacgtctc accagtggag gttgggcagc caagacacca caatgctggg tgtcttcaga
     4561 atggacttaa tcttgtcctt ttgctttctg ccagtgcaga tcaccatctc tcagatgagc
     4621 aggaccccac cctctggcag tcttgtcttg ggagaatcac tctgagctcc catcctttgt
     4681 aaattaacat tggtttgagc accaccctcc atcacggctg cagtgagcca tgattgcacc
     4741 actgtgttcc agcctgggtg acagagcaag accccattcc aaaaaaaaaa aaaaatttgc
     4801 caaatagaca cagtcctcac aaaagaagtt ggcagaataa caccccttcc taccacatct
     4861 cctcagaacc tgtgtatttg ttaggttacg aaacaaaagg gaattaagtt tgctaatcag
     4921 ctgaccttaa aacaggaaga ggatcccgtg tttctgggtg ggccggagga atcacaaaga
     4981 tccctaaatg tggaagagga aggcaaaaaa gagtccacat caaagagact taagaaagac
     5041 ttgactagac actgctggtt ttgaagatgg gaagggaagg gtcagaagcc aaggaatgtg
     5101 tgtgctgtct agaagctgga aaaggcaagg aagtagattc tcccctagag cctcccagaa
     5161 ggagcgtagc cctgctgatg ccttaatttt agctcagtga gaccaggcgg acttaagacc
     5221 tatagaaccg tcagatgaca acattatgtt ttaagccgct acaattgtgg caatttgtta
     5281 aagtaacaat agaagaccta atgtaagtaa gtctcatgtg gaagttgcca tggttttgtt
     5341 tttctttctt tttttttttt tgagacagtc tcactctcac tccacgccca ggctggagtg
     5401 cagaggcgtg atctcagctc actgcaacct ccacctccag ggttcaagcg attctcctgc
     5461 ctcagcctcc tgagaagctg ggattacagg tgagcaccac cacacccagc taattttttt
     5521 ttgtattttt agtagagatg gagtttcacc atgttggcca ggatggtctt gatctcttgg
     5581 cctcatgatc cacctacctc agcctcccaa agtgttggta ttacaggcat gagccaccgc
     5641 acccaggccc catcattttt attttctaca attctggctg acatcttatt gctccatcct
     5701 tgctaatgat agacttcatc tcacatagac cagtgttttc agagaccggc ttattgattc
     5761 agtaaagggc tgggggaaac tgcacacaca aggacatata aaatctaagc ctctgcctgg
     5821 gccacatgac aggattcaga agcacctttg atataatggg tgcccgacct catgtgaaag
     5881 tccaagttca ggtgtaatgt gagagcggta agaattcact ggcctaggct tgggaactaa
     5941 tgctgcccac cacgttcagc ctcagaggag aagaaatgac ttgaagaaca taatttgtga
     6001 atttgccaat tgtttttcat tttatagcat cacacagtaa aagtagataa aataatttta
     6061 atgaaaatac ttctgtgggc caggtgcggt ggcttacgcc tgtaatccca gcactttggg
     6121 aggccgaggc ggcggatcac ctgaggtcag gagttctaga ccagcctgac caacatggag
     6181 aaaccccatc tctactaaaa atacaaaatt agctgggtgt ggtggcgcac tcctgttatc
     6241 ccagctactc aggaggctga ggcaggagaa ttgcttagac tcgggaggcg gaggttgggg
     6301 tgagccgaga tcacgccatt gtactccagc ctgggcaaca agagtgaaac tgtctcaaaa
     6361 aaaagaaaaa aaaacagaat tttgtgaaat aaaggccact tgggagtatc tgagccaccc
     6421 ca
//
LOCUS       NM_001012993            2687 bp    mRNA    linear   PRI 28-JUL-2023
DEFINITION  Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.
ACCESSION   NM_001012993
VERSION     NM_001012993.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2687)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2687)
  AUTHORS   Liu L, Fan Y, Zhang Z, Yang C, Geng T, Gong D, Hou Z and Ning Z.
  TITLE     Analysis of gene expression and regulation implicates C2H9orf152 has
            an important role in calcium metabolism and chicken reproduction
  JOURNAL   Anim Reprod Sci 176, 1-10 (2017)
   PUBMED   27889102
REFERENCE   3  (bases 1 to 2687)
  AUTHORS   Ozyildirim AM, Wistow GJ, Gao J, Wang J, Dickinson DP, Frierson HF
            Jr and Laurie GW.
  TITLE     The lacrimal gland transcriptome is an unusually rich source of rare
            and poorly characterized gene transcripts
  JOURNAL   Invest Ophthalmol Vis Sci 46 (5), 1572-1580 (2005)
   PUBMED   15851553
REFERENCE   4  (bases 1 to 2687)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC110807.1, BX648620.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000400613.5/ ENSP00000383456.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL353598.12.
            On Jun 8, 2020 this sequence version replaced NM_001012993.2.
FEATURES             Location/Qualifiers
     source          1..2687
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.3"
     gene            1..2687
                     /gene="C9orf152"
                     /gene_synonym="bA470J20.2"
                     /note="chromosome 9 open reading frame 152"
                     /db_xref="GeneID:401546"
                     /db_xref="HGNC:HGNC:31455"
     misc_feature    92..94
                     /gene="C9orf152"
                     /gene_synonym="bA470J20.2"
                     /note="upstream in-frame stop codon"
     CDS             581..1300
                     /gene="C9orf152"
                     /gene_synonym="bA470J20.2"
                     /codon_start=1
                     /product="uncharacterized protein C9orf152"
                     /protein_id="NP_001013011.2"
                     /db_xref="CCDS:CCDS35102.2"
                     /db_xref="GeneID:401546"
                     /db_xref="HGNC:HGNC:31455"
                     /translation="MEGLPCPCPALPHFWQLRSHLMAEGSRTQAPGKGPPLSIQFLRAQ
                     YEGLKRQQRTQAHLLVLPKGGNTPAPAESMVNAVWINKERRSSLSLEEADSEVEGRLEE
                     AAQGCLQAPKSPWHTHLEMHCLVQTSPQDTSHQVHHRGKLVGSDQRLPPEGDTHLFETN
                     QMTQQGTGIPEAAQLPCQVGNTQTKAVESGLKFSTQCPLSIKNPHRSGKPAYYPFPQRK
                     TPRISQAARNLGLYGSA"
     regulatory      2660..2665
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C9orf152"
                     /gene_synonym="bA470J20.2"
                     /note="hexamer: AATAAA"
     polyA_site      2687
                     /gene="C9orf152"
                     /gene_synonym="bA470J20.2"
                     /note="major polyA site"
ORIGIN
        1 agtcccagct ctgccaggaa aggggagact tcaccgtggc actgggaatt ggattctaaa
       61 ctttaggatc aagcaatgga aggacctgga ataagacacc ttcttgaccc ccctgaaggg
      121 ctctgagcag ctgggcttgc ctttctcttt gctcccccag tcctcccctt acttctcggt
      181 ctcccactcc ccatcactcc tttccctgcc tcctcctgcc tgtctccatc ttcctccctc
      241 tctttcttct ctcgccccat taatccccgc ttgtcactat cacctccttc ctccagtctt
      301 tcccccttcg ctgccccttc tttcctctga catttccttc tcctcttact gccactgtct
      361 cccacctttc tcctccccca catttctccc tatccctacc tcctcttccc cttcatcttt
      421 ctccttcccc cttatttttc tatctccttc ctcagtccca ctcctctttc caccctcctt
      481 ttgcccgtca cttctccttc tccctcactg ccccctccct ctctctcccc tccccaggtc
      541 ctgccccacc cagctgtgtt tgcttttctc ccggatccgg atggaggggt tgccctgccc
      601 gtgcccagcc ctgccccact tctggcagct taggtctcac ttaatggctg agggctccag
      661 gactcaggcc cctgggaaag ggcccccact cagcatccag ttcctgcgag cccagtatga
      721 aggcttgaag aggcagcaga ggacccaggc ccacctcctg gtgcttccaa aaggaggaaa
      781 cacacctgct cctgcagaat cgatggtcaa tgctgtttgg attaacaagg agagaagaag
      841 ctcactgtcc ctggaagagg cagattctga ggtggagggg aggctggagg aggctgccca
      901 gggctgcctt caggccccca agtctccatg gcacacgcac ctggagatgc attgtttggt
      961 ccaaacctcc ccccaggaca ccagtcatca agtacatcat aggggcaagc ttgtgggatc
     1021 tgatcaaagg ctccctcctg aaggagacac acacttgttt gaaaccaatc agatgactca
     1081 gcaaggaacc ggaatcccag aggctgccca gcttccatgc caggtgggca atacccaaac
     1141 aaaggcagtg gaatctggct taaaattcag cactcaatgt cctctttcca taaagaaccc
     1201 acacaggtct ggcaaaccag cttactatcc atttccccag aggaaaacac ccaggatctc
     1261 ccaagctgcc cggaacctgg gcttatatgg ctcagcgtga agctttctat tctgccagat
     1321 gtcttgacct tgaggccacc tatggcctta tagaagaacc aaggaggcag agccacaacg
     1381 aggtctctag ctatgagcaa gaactggact aacctaatta taggaattgt gggagacgaa
     1441 cttcacaatg gtaacatggt tttacccttc caataagaag agacttccca ggccaaattg
     1501 cccacagttt aggatgaaga ggactgtctg gtcagtgcag ccccattctg acattactat
     1561 gaggtcctgg atatccattc cttggggagg accagtaaga catctgctcc atccctggaa
     1621 ctggataatt ttggaacata aaccagggac ctagccaaca gaatgcctta gcaatgccca
     1681 ggggtcaatg ggcgtggcat tcttgttttc aatgtcttct gatgatttct catatattct
     1741 ggagaagaca agctctgaga attcagatgc tttttctggt ggctatgtct ggggggccat
     1801 ctcacttaga agtcacaaca ctcattggca gtgatcacat catttcaatt tgggcttccc
     1861 aaagtatggt cacccagggt atgaaggtga gatcaatgct acctaccatt ttgtgtcttt
     1921 aaggggtctt tagaaagggc taatcatctg tcactgctca ctgagacatg tacattccag
     1981 catcatcaca gagttatctc cttccttcct tccttccttc cttccttcct tccttctgtc
     2041 tctccctccc tccctccctt cctcccttct ttccttcttt ctttcctctc ttccttcttg
     2101 ccttctttcc tgccttcctg cctatctttt ctctctctct ctctctgcaa attaagttct
     2161 tattaaaaac tgccaatcat tgacgatata taatgatgag atcctgaaca aaagaggcaa
     2221 agaaatgctc ctacttgaaa aatacacatt ccctatagac tgcctcctgt ttagtccaac
     2281 ttagatcact cagatccttc ctgggatcaa atatattttt aaacctaaga caaagcgaag
     2341 caggtgtcac ttgggtgata gggaaaaaag cttgtatttc ctggttaatg tttagctttt
     2401 gtaatgctat ttaaacacac ctaaggtgcc tttccctcat ctcaggtgct ttctctgtaa
     2461 agtttcactc ccacctttct tttctctgca tggccgtcca gtcttgccca tctacatcca
     2521 gagctgttaa ctagtagtgt cattacctgt gaaaaacatg tagaagcttc cttgaaccac
     2581 ccagaaatcc actcaaattt ggggattgtc attccttttg tgaataatta atacaattca
     2641 gttgtttttt aaatattcta ataaaaaagg aaattttctc aaaaaaa
//
LOCUS       NM_001012994            7700 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens sorting nexin family member 30 (SNX30), mRNA.
ACCESSION   NM_001012994
VERSION     NM_001012994.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7700)
  AUTHORS   Anton Z, Betin VMS, Simonetti B, Traer CJ, Attar N, Cullen PJ and
            Lane JD.
  TITLE     A heterodimeric SNX4--SNX7 SNX-BAR autophagy complex coordinates
            ATG9A trafficking for efficient autophagosome assembly
  JOURNAL   J Cell Sci 133 (14) (2020)
   PUBMED   32513819
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 7700)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (bases 1 to 7700)
  AUTHORS   van Weering JR, Sessions RB, Traer CJ, Kloer DP, Bhatia VK, Stamou
            D, Carlsson SR, Hurley JH and Cullen PJ.
  TITLE     Molecular basis for SNX-BAR-mediated assembly of distinct endosomal
            sorting tubules
  JOURNAL   EMBO J 31 (23), 4466-4480 (2012)
   PUBMED   23085988
REFERENCE   4  (bases 1 to 7700)
  AUTHORS   Letra A, Menezes R, Govil M, Fonseca RF, McHenry T, Granjeiro JM,
            Castilla EE, Orioli IM, Marazita ML and Vieira AR.
  TITLE     Follow-up association studies of chromosome region 9q and
            nonsyndromic cleft lip/palate
  JOURNAL   Am J Med Genet A 152A (7), 1701-1710 (2010)
   PUBMED   20583170
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.258802.1, ERR279851.540.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374232.8/ ENSP00000363349.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL390067.19, BX367137.2, BG699098.1, AK127013.1, AL360235.12,
            AL139041.17 and AA401207.1.
            On Nov 23, 2018 this sequence version replaced NM_001012994.1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7700
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q32"
     gene            1..7700
                     /gene="SNX30"
                     /gene_synonym="ATG24A"
                     /note="sorting nexin family member 30"
                     /db_xref="GeneID:401548"
                     /db_xref="HGNC:HGNC:23685"
     CDS             243..1556
                     /gene="SNX30"
                     /gene_synonym="ATG24A"
                     /codon_start=1
                     /product="sorting nexin-30"
                     /protein_id="NP_001013012.1"
                     /db_xref="CCDS:CCDS43865.1"
                     /db_xref="GeneID:401548"
                     /db_xref="HGNC:HGNC:23685"
                     /translation="MAGGPPKALPSTGPHSLRDMPHPLAGSSSEEAVGGDSTPSPDLLM
                     ARSFGDKDLILPNGGTPAGTSSPASSSSLLNRLQLDDDIDGETRDLFVIVDDPKKHVCT
                     METYITYRITTKSTRVEFDLPEYSVRRRYQDFDWLRSKLEESQPTHLIPPLPEKFVVKG
                     VVDRFSEEFVETRRKALDKFLKRITDHPVLSFNEHFNIFLTAKDLNAYKKQGIALLTRM
                     GESVKHVTGGYKLRTRPLEFAAIGDYLDTFALKLGTIDRIAQRIIKEEIEYLVELREYG
                     PVYSTWSALEGELAEPLEGVSACIGNCSTALEELTDDMTEDFLPVLREYILYSDSMKSV
                     LKKRDQVQAEYEAKLEAVALRKEDRPKVPADVEKCQDRMECFNADLKADMERWQNNKRQ
                     DFRQLLMGMADKNIQYYEKCLMAWESIIPLLQEKQEAK"
     misc_feature    243..374
                     /gene="SNX30"
                     /gene_synonym="ATG24A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWJ9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    354..356
                     /gene="SNX30"
                     /gene_synonym="ATG24A"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8CE50; propagated from
                     UniProtKB/Swiss-Prot (Q5VWJ9.1); phosphorylation site"
     misc_feature    360..362
                     /gene="SNX30"
                     /gene_synonym="ATG24A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q5VWJ9.1); phosphorylation site"
     misc_feature    402..461
                     /gene="SNX30"
                     /gene_synonym="ATG24A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VWJ9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      7673..7678
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNX30"
                     /gene_synonym="ATG24A"
                     /note="hexamer: AATAAA"
     polyA_site      7700
                     /gene="SNX30"
                     /gene_synonym="ATG24A"
                     /note="major polyA site"
ORIGIN
        1 gcggccgtgc tgccagcgga cccgcggcgg gctcgggcgc ggagcggggg cgcgcggcgc
       61 ggagcggagc gtctgagcgc cggcagagac cagccggcgg gtggcggcgg cccccagcac
      121 ggccggtgca aggcctcggg ttaagcggcg gccgagcggg gctcggcccg gggtgctcgg
      181 ggagctcgcc gcggcgggca gcaggaggaa gcggcggcgg cgcgtcccga gcggtgcgcg
      241 ccatggcggg cgggcccccc aaggccctgc cgtccacggg gccccactcc ctgcgcgaca
      301 tgccgcaccc gctggccggc tccagcagcg aggaggccgt gggtggtgac agcacgccca
      361 gcccggacct gctgatggcc cgcagcttcg gtgacaagga tctcattttg cccaacggtg
      421 gtactccagc aggtacttca agtccagctt cttcatcttc ccttctcaac agacttcagc
      481 ttgatgatga tattgatggt gagactagag atctcttcgt tatagttgat gatcccaaga
      541 agcatgtgtg tacaatggag acttacatca cctataggat caccaccaaa agtactcggg
      601 tggagtttga cctgccagaa tattctgttc gtcgaagata ccaggatttt gactggttga
      661 ggagcaaact ggaagaatcc cagcccactc atctcattcc ccctcttccc gagaagtttg
      721 tggtaaaagg tgttgtggat cgtttttcag aagagtttgt ggagaccaga agaaaagctt
      781 tggataaatt tctaaaaaga attacggacc atcctgtgct gtctttcaat gaacacttta
      841 atattttcct tactgctaag gacctgaacg cctacaagaa gcaagggata gcattgctga
      901 ccagaatggg cgagtcagtc aagcacgtca ctggcggcta caagctgagg actcggccgc
      961 ttgagtttgc tgccataggt gactacttag atacatttgc actcaaactg ggaaccattg
     1021 atcgaatagc ccagcggatc atcaaagaag aaatagagta ccttgtggag ctgagagaat
     1081 acgggcctgt gtactccaca tggagcgcct tggagggtga gctggctgaa cccctggagg
     1141 gtgtgtcagc ttgcattggg aactgctcta cagccttaga agagctgaca gatgacatga
     1201 cagaagactt cctacctgtg ctcagggaat atattttata ctctgactcc atgaagagtg
     1261 tattgaagaa gagggaccaa gttcaagcag agtatgaagc caaactggaa gctgtggctc
     1321 tgcggaagga agaccgcccc aaggtaccgg cggacgtcga gaaatgtcag gatcggatgg
     1381 agtgtttcaa tgctgacctg aaagctgaca tggagaggtg gcagaacaac aagaggcagg
     1441 acttccggca gctactcatg gggatggctg acaagaacat ccagtattat gagaagtgcc
     1501 tcatggcgtg ggagtcgatt attccactac tgcaggagaa acaagaggcc aagtaaagtt
     1561 ctttcttggg acggagactc ttctacctac acagggcctg gcaccctata ccggaatgtc
     1621 cctgcagtgc cagagacgca gtgctgggaa aacaaccaca gaaacatctc tcctttgtgt
     1681 atttttccct cccccacctt tcaccccaca gtggttttca attagtattt attccatggt
     1741 ggagtctgtg aggctagaat atctctcagc aagagcagca tacctccatg ttgtgaaggc
     1801 atctgttcag tgaagcacta cgaaaatttg aaaccaaggg acaagacaac ctgcagctga
     1861 cgctctgaca tttcatgaca gtttcctctt tagggacagc tgagttgcca gttgtgggag
     1921 agaacccggg gcctgctttt caaggatgag gaggaggcag gaacagaagg cagctgctgc
     1981 tttctgtgga aacctggccc ctctggaatt ggcctctgtg ggcattgact cgtcttggcc
     2041 taggaggcat tggtgcctcc ctggcaagtc cttaacgtac agtacctgta gctgtgagtg
     2101 tggcctgctg cctgcttgtg atgagtgata ccgtcttact gtttctgttt cacataggga
     2161 catttaaatc aatgtcaatg tgcgtccatg cttgagtgag caagccagcg tccttgtcct
     2221 cctgcaatgc ctttgggaag ctcaggggaa tgctccccaa gcttgtttct gacactagaa
     2281 tgcaacagat tggaaacttt ttgtgtaaaa tgaaaaaaac aaagtgctgg tttttttttt
     2341 ttttctgtga aggtcttcag tgttttgctt gttcactgtc atcagagcag ggattagacc
     2401 tgttagggaa tatctattgt cttgaagtca gagtagctcc ccattgttga gatcagtggg
     2461 catataccaa gctccacccc cagtgtcagc tttgtgcaat ttgcctttac ctcaccaaaa
     2521 atacctactt taatatttcc tcctgtgtcc tctgaatgtc tgggcgagct tttggtgaga
     2581 gggctggtat gtcatgttgt tatgatacag tcgaaatttg tcaatgcagt gtgaatgttc
     2641 tacataaagt gctttaaccc ttaacatttc ctggtcagga aggaaaatca gtacctggac
     2701 gggcctcgaa aatgacaaat gcaacagcga gccctttgtg tccagctaag ctaaagtctc
     2761 ctcagtgtgc agccagattc ctggggactg ctgagtgtgg ttacaggctg catttcagac
     2821 aatgaccagg tttacttttc agatcacaaa gcaaacagtc accaaggatc tgtcttccaa
     2881 ctcttttttt tttctgctga aatgaagcta catgtcatgt ttgtgttctt tcatctgtgg
     2941 ctcatccctg taaaactacg aatctgagcc tcaaataagc agtagttttt ttgttgttta
     3001 tttttaatga aacagctgtg ttaaggcgct gcttcagatg caagttcacc tggaaatact
     3061 ggtcagcggg cagcacgtca aggtcactta agcccacttt taactgcagg tcatcctcgc
     3121 atcagccaag gctgtggtgc tgttgatgcc gcagttggac agcataggac ggcttggttc
     3181 tgtttcattg tgtttgacaa tgttgcagtt taaatgataa tgtttaaatc aattggtact
     3241 tgcctgtagt gttaaaccct atttgtgcca ttctcaagtc ctttgatgtg aattttcagt
     3301 ttggtacagt tagaaatgac tcattgatgc ggacaggtaa gaacaaccca tgtacccccg
     3361 agtgattgca tgctttattc tacctctaag ccatcgtgtt gacgtgggta tggacgcctg
     3421 ggtctgacct gacactgtgc tgggagaatc aggatgtgtg tctaatggcg agctgacagc
     3481 cctctgctga tatttggcag aaggcaccag accagcccag cagcaaatgc tcatctttgg
     3541 gaacatagga agctttacct tggggaaggt atgctttaca aatgtccagt gtaatgaatg
     3601 tttggaaaaa actggagtta caggaaaatg aaatctgact atctgctagt tgccaaaacc
     3661 cagaaacatt cctgtgtaat ggttagttgg gaaagaaggc agcacttgaa aaaatttacc
     3721 aggttcctca ctgggagatg tgggaagggg cgtgggacgc acgcggtcac tccctctcct
     3781 agtgagaggc agatggctgg ctctgaaggg aggcaggcac cgtgggattt gggcttgctc
     3841 tgcttggtcc ccatgtgatg ccctgtgctg taagatatca gaaagacctg gaacaaggca
     3901 aactttatgt cctcctggca tgttattgat aacagagcca ggaagtccag tgtacattac
     3961 agattttctg ggagaaatag tccttccaga gaaaggattc cttcccagcc tccaggctgg
     4021 tgtctcatga ggtgaggagg ctggcccaga aggaagggga cgttaggtgg tgaagcaggc
     4081 tcccctgggc ctctgagggc cagcagtccc aaccatttgc ctcttcgttt tgaccaagca
     4141 caaaagagat attccctaga agtgtcacac ggaggcttct gtgccaaaga ctgccttgta
     4201 gaggtctcat cacctcacac ttcttgactt cacaaaattg tggccctgag atcagtactc
     4261 ctctcttaag tatttattat tattattatt tactttacct caagcagaca gacataggtt
     4321 ttgaggcttg aatacatggc agtggaatac aaggccctcc ctagcagccg ccccaggcct
     4381 ggaaagtggg agatttcatt cgcccgggtt aaaaatccag aggaagacag aagagaggag
     4441 tcctaggaac tgagcagatt ttagagacgc aaatgatgtt taagagagcc ttgtgatttg
     4501 tagcaagcat gggcactgct ttttcttact aatgtggtag atctacacga acattctagg
     4561 ctgttctgct cagagcgagg aaccactgct cctcaatggg gagggaacat accacccagc
     4621 caggcttagc attgggtttt atcctttaat aaaagtttta taatgaatcc tgttcacctt
     4681 aaagtgtgat tatggagatg attggctcca tattccacca cgtcattcct tcaactcacc
     4741 agacaccttt ctttagttga aataaaccag catgacctgg agatcatggt gactgtaagc
     4801 taagtctgtt ttcatgccag atttcagccc cacccagagt gtgctctaga tgttgttgat
     4861 ttgaatggtt ttcccagttc ccactccaca tggggaagtt gaatgaatgc acacctgctg
     4921 ctcacttctt gtgaggctgc cttttgtgat caaataacag gaagttctgc tttagaggag
     4981 ggcacgatga ccatgtggca gtctgcaagt ggaattttgg gatggcagcc cgaggaacat
     5041 ccagagttac tgtgtgactt ggtcctgcca tcgttagctt tgaaatcaca ggcattgggc
     5101 tctgttttga caccattcat tggactgcgg gacagtcatt ctttacgttc tctcttgagc
     5161 tggtgagaga ggaggaagag ggaagtcaag agcaacctcc aaggcctatg tcagcctctt
     5221 ctccttgggt cttggggtgg gttagaactg ggttccagtc tggccagatg ggttgctggc
     5281 tgcactgagg gtgattcttc tcagaagatg ggctgcctgt ggtcaggaca gggcatacca
     5341 gtctggactc caccttccca gacacctact ttaaggacct gtggaaactg ggtgatccaa
     5401 ttatagggct ggggcaaccc tgctttggcc accctcattt acaaacttag gttgggagct
     5461 tgggtttcct gtctcacttc caaaagcctt caagatggca gcagatggac acaccctctc
     5521 atttcttgtg tcttgtctgt cagatggcag gaggcctgta tcagtaaatt tgaggaaaat
     5581 gttctctcct gggccagcct cacagcttgc gttgggtgtg ttggaattgt tctcttcggc
     5641 cttgttctgc cttgtgatct tttcaattca gtgaataaac caggaatcca ttttttcacc
     5701 aacccaccct gtagattgtc agctttttgt ttgagagatg cctggtctca cagttacatg
     5761 tatcagagtg tgtgtaagtt gtctgtgtta gaaaggttgg ggtgggggct ttgttgcagg
     5821 ggattagact gttctttctt catcataatt tgagatacat cctgagtatg actgtctaac
     5881 cctttctgtg tggcagaaaa atatgttttc caggtagttt ttactactac agagagtctg
     5941 taaataagtg ctttaaaaaa ataacaaacc aataagatat ttgtctccta tataaacatt
     6001 ctgtgtattt agcacttgaa aatcaacaaa tccagaattt aaaaaaatgc cacagacttt
     6061 tcaaagccca actctacttt tttgagaatt tgtccgtacc tactaatatg ccttattctt
     6121 cttcacctag tgttttaaaa gtcctgggta gaaagagttt tagaaatgta atcagttgtt
     6181 cagcttcaat aatatagaga tctaacatag tcagtcctca ggccccctaa agaaacaagc
     6241 aagaaagtga gggccatcac tagggttggc tttggggagg ggaaaactaa ggactgcttt
     6301 tgccaaatga tatttttgat aatgtaagga aacacaggga ccacaaaacc tttttttttt
     6361 ttttaagtgt gaaagattag tgccttttgg catacttttg attttagagg atatagtatc
     6421 ggcattgaca aatcacgtag aaacaaagaa tgctatagat gacaacagta ttaaatgtta
     6481 ctcctgattc tgcagaacag cttttgaaga tactgggggg tatcttcaag cctcagagca
     6541 gcttgtttca gatagaaatt ctctatgggt tgaaatgcca aaaacagaaa acatgatgtt
     6601 gactcatgta atttagtcca ttttagcaga gcctttagtg ttaacaccag tggcgaggag
     6661 cattgcatat tctctgtcag cagcagcact cccacaccag gtggttctgg gctctctgta
     6721 ggctggtcct agtaggtgac acccagcaac acccctgttg gacaggattg attgttcgca
     6781 gtcttagacc aacacttcag tcagaaatgt tactgggagg aggaaaggaa aatcactttt
     6841 tttcctccat gtggaaatga ggagagagga aagtggattg caaaccaaaa tgtgagtcag
     6901 tgtgatgaag cagtggctct gtcatctcgg cctttatcca ataacaaacc agcatctctt
     6961 aaaggcgctt ttggcctaga cacccctgaa gtttggatga agtctggtgg attccctgtc
     7021 tgttgtattt ctgtgtgcct gttcccttca ttgctgtgag ttgggagtgc attgagagat
     7081 gatgtccatc tgatatattc ctgtgaaata aactgccagc aaactttcta acttgtattt
     7141 taactgttaa agaagagatt aaaaacttcg gctttggaca tgtccacatt atggactgtc
     7201 atcttatttt taaaagtcat tctttacgtt taaaatttta aaataaaaac cttctgaggt
     7261 attgatgtag tccaccgtgt aaatgttacc ttctctccat gctgccatta tgccaaaaca
     7321 aaagctgtga taaaaaaagt gcttgagaga gtgtgttgat aagaaagtga tttatttaca
     7381 gatggaagtc tttgtttcat gaagctacca aactttaaaa agaatgtcac cctttttttt
     7441 gtttgttatg gaaaccagag attgtaaaat ggaaaaagaa tcgttttttt gttgactttt
     7501 tgatgctggc acgaggtttt tgtccacttt tttcatatat ctgtgtataa aaaaattgtt
     7561 gtttactatg gaattagtat tacattttga ggtaaacaaa agaatttgta ttgcttgata
     7621 aatattagct tgtaaattta aagtttcttt acttcaatta acttaaagga ccaataaacc
     7681 cataaaagat gctttcttta
//
LOCUS       NM_001013                713 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S9 (RPS9), transcript variant 1,
            mRNA.
ACCESSION   NM_001013
VERSION     NM_001013.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 713)
  AUTHORS   Huang Y, Peng M, Qin H, Li Y, Pei L, Liu X and Zhao X.
  TITLE     LAPTM4B promotes AML progression through regulating RPS9/STAT3 axis
  JOURNAL   Cell Signal 106, 110623 (2023)
   PUBMED   36758682
  REMARK    GeneRIF: LAPTM4B promotes AML progression through regulating
            RPS9/STAT3 axis.
REFERENCE   2  (bases 1 to 713)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   3  (bases 1 to 713)
  AUTHORS   Yang W, Qian Y, Gao K, Zheng W, Wu G, He Q, Chen Q, Song Y, Wang L,
            Wang Y, Gu P, Chen B and Zhai R.
  TITLE     LncRNA BRCAT54 inhibits the tumorigenesis of non-small cell lung
            cancer by binding to RPS9 to transcriptionally regulate JAK-STAT and
            calcium pathway genes
  JOURNAL   Carcinogenesis 42 (1), 80-92 (2021)
   PUBMED   32459848
  REMARK    GeneRIF: LncRNA BRCAT54 inhibits the tumorigenesis of non-small cell
            lung cancer by binding to RPS9 to transcriptionally regulate
            JAK-STAT and calcium pathway genes.
REFERENCE   4  (bases 1 to 713)
  AUTHORS   Song KP, Shu P, Ma JL, Wang B and Chen B.
  TITLE     [Ribosomal Protein S9 Expression in Multiple Myeloma and Its Effect
            on Cell Biological Function]
  JOURNAL   Zhongguo Yi Xue Ke Xue Yuan Xue Bao 41 (2), 175-182 (2019)
   PUBMED   31060671
  REMARK    GeneRIF: Inhibition of RPS9 can promote apoptosis, cell cycle
            arrest, and proliferation of myeloma cells. RPS9 can affect the
            activation of NF-kappaB pathway and cell apoptosis through SENP1
REFERENCE   5  (bases 1 to 713)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   6  (bases 1 to 713)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   7  (bases 1 to 713)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   8  (bases 1 to 713)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 713)
  AUTHORS   Frigerio JM, Dagorn JC and Iovanna JL.
  TITLE     Cloning, sequencing and expression of the L5, L21, L27a, L28, S5,
            S9, S10 and S29 human ribosomal protein mRNAs
  JOURNAL   Biochim Biophys Acta 1262 (1), 64-68 (1995)
   PUBMED   7772601
REFERENCE   10  (bases 1 to 713)
  AUTHORS   Mundus DA, Bulygin KN, Yamkovoy VI, Malygin AA, Repkova MN,
            Vratskikh LV, Venijaminova AG, Vladimirov SN and Karpova GG.
  TITLE     Structural arrangement of the codon-anticodon interaction area in
            human placenta ribosomes. Affinity labelling of the 40S subunits by
            derivatives of oligoribonucleotides containing the AUG codon
  JOURNAL   Biochim Biophys Acta 1173 (3), 273-282 (1993)
   PUBMED   8318536
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.184569.1,
            SRR5189652.94038.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000302907.9/ ENSP00000302896.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AB055775.1, U14971.1 and BC007410.2.
            On Nov 23, 2018 this sequence version replaced NM_001013.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S4P family of ribosomal proteins. It is located in the
            cytoplasm. Variable expression of this gene in colorectal cancers
            compared to adjacent normal tissues has been observed, although no
            correlation between the level of expression and the severity of the
            disease has been found. As is typical for genes encoding ribosomal
            proteins, multiple processed pseudogenes derived from this gene are
            dispersed through the genome. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1), as well as variants 2, 3, and
            4, encodes isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..713
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..713
                     /gene="RPS9"
                     /gene_synonym="S9; uS4"
                     /note="ribosomal protein S9"
                     /db_xref="GeneID:6203"
                     /db_xref="HGNC:HGNC:10442"
                     /db_xref="MIM:603631"
     misc_feature    1
                     /gene="RPS9"
                     /gene_synonym="S9; uS4"
                     /note="predominant transcription initiation site"
     misc_feature    12..14
                     /gene="RPS9"
                     /gene_synonym="S9; uS4"
                     /note="upstream in-frame stop codon"
     CDS             57..641
                     /gene="RPS9"
                     /gene_synonym="S9; uS4"
                     /note="isoform a is encoded by transcript variant 1; 40S
                     ribosomal protein S9; small ribosomal subunit protein uS4"
                     /codon_start=1
                     /product="small ribosomal subunit protein uS4 isoform a"
                     /protein_id="NP_001004.2"
                     /db_xref="CCDS:CCDS12884.1"
                     /db_xref="GeneID:6203"
                     /db_xref="HGNC:HGNC:10442"
                     /db_xref="MIM:603631"
                     /translation="MPVARSWVCRKTYVTPRRPFEKSRLDQELKLIGEYGLRNKREVWR
                     VKFTLAKIRKAARELLTLDEKDPRRLFEGNALLRRLVRIGVLDEGKMKLDYILGLKIED
                     FLERRLQTQVFKLGLAKSIHHARVLIRQRHIRVRKQVVNIPSFIVRLDSQKHIDFSLRS
                     PYGGGRPGRVKRKNAKKGQGGAGAGDDEEED"
     misc_feature    252..254
                     /gene="RPS9"
                     /gene_synonym="S9; uS4"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZWN5; propagated from
                     UniProtKB/Swiss-Prot (P46781.3); acetylation site"
     misc_feature    402..404
                     /gene="RPS9"
                     /gene_synonym="S9; uS4"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZWN5; propagated from
                     UniProtKB/Swiss-Prot (P46781.3); acetylation site"
     misc_feature    513..515
                     /gene="RPS9"
                     /gene_synonym="S9; uS4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46781.3); phosphorylation site"
     misc_feature    519..521
                     /gene="RPS9"
                     /gene_synonym="S9; uS4"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P46781.3); acetylation site"
     misc_feature    540..638
                     /gene="RPS9"
                     /gene_synonym="S9; uS4"
                     /note="propagated from UniProtKB/Swiss-Prot (P46781.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    543..545
                     /gene="RPS9"
                     /gene_synonym="S9; uS4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46781.3); phosphorylation site"
     regulatory      689..694
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS9"
                     /gene_synonym="S9; uS4"
                     /note="hexamer: AATAAA"
     polyA_site      713
                     /gene="RPS9"
                     /gene_synonym="S9; uS4"
                     /note="major polyA site"
ORIGIN
        1 ctctttctca gtgaccgggt ggtttgctta ggcgcagacg gggaagcgga gccaacatgc
       61 cagtggcccg gagctgggtt tgtcgcaaaa cttatgtgac cccgcggaga cccttcgaga
      121 aatctcgtct cgaccaagag ctgaagctga tcggcgagta tgggctccgg aacaaacgtg
      181 aggtctggag ggtcaaattt accctggcca agatccgcaa ggccgcccgg gaactgctga
      241 cgcttgatga gaaggaccca cggcgtctgt tcgaaggcaa cgccctgctg cggcggctgg
      301 tccgcattgg ggtgctggat gagggcaaga tgaagctgga ttacatcctg ggcctgaaga
      361 tagaggattt cttagagaga cgcctgcaga cccaggtctt caagctgggc ttggccaagt
      421 ccatccacca cgctcgcgtg ctgatccgcc agcgccatat cagggtccgc aagcaggtgg
      481 tgaacatccc gtccttcatt gtccgcctgg attcccagaa gcacatcgac ttctctctgc
      541 gctctcccta cgggggtggc cgcccgggcc gcgtgaagag gaagaatgcc aagaagggcc
      601 agggtggggc tggggctgga gacgacgagg aggaggatta agtccacctg tccctcctgg
      661 gctgctggat tgtctcgttt tcctgccaaa taaacaggat cagcgcttta caa
//
LOCUS       NM_001013251            1885 bp    mRNA    linear   PRI 17-SEP-2023
DEFINITION  Homo sapiens solute carrier family 3 member 2 (SLC3A2), transcript
            variant 6, mRNA.
ACCESSION   NM_001013251
VERSION     NM_001013251.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1885)
  AUTHORS   Li Z, Chen S, He X, Gong S, Sun L and Weng L.
  TITLE     SLC3A2 promotes tumor-associated macrophage polarization through
            metabolic reprogramming in lung cancer
  JOURNAL   Cancer Sci 114 (6), 2306-2317 (2023)
   PUBMED   36793241
  REMARK    GeneRIF: SLC3A2 promotes tumor-associated macrophage polarization
            through metabolic reprogramming in lung cancer.
REFERENCE   2  (bases 1 to 1885)
  AUTHORS   Yamasaki A, Maruyama-Takahashi K, Nishida K, Okazaki S, Okita K,
            Akiyama Y, Suzuki H, Endo Y, Masuko K, Masuko T and Tomioka Y.
  TITLE     CD98 regulates the phosphorylation of HER2 and a bispecific
            anti-HER2/CD98 antibody inhibits the growth signal of human breast
            cancer cells
  JOURNAL   Genes Cells 28 (5), 374-382 (2023)
   PUBMED   36811310
  REMARK    GeneRIF: CD98 regulates the phosphorylation of HER2 and a bispecific
            anti-HER2/CD98 antibody inhibits the growth signal of human breast
            cancer cells.
REFERENCE   3  (bases 1 to 1885)
  AUTHORS   Zhang W, Zhou M, Chen C, Wu S, Wang L, Xia B, Liu J, Ma X, Pan T,
            Zhang H, Li L and Liu B.
  TITLE     Identification of CD98 as a Novel Biomarker for HIV-1 Permissiveness
            and Latent Infection
  JOURNAL   mBio 13 (6), e0249622 (2022)
   PUBMED   36214569
  REMARK    GeneRIF: Identification of CD98 as a Novel Biomarker for HIV-1
            Permissiveness and Latent Infection.
REFERENCE   4  (bases 1 to 1885)
  AUTHORS   Dong J, Li S, Lu Z, Du P, Liu G, Li M, Ma C, Zhou J and Bao J.
  TITLE     HCMV-miR-US33-5p promotes apoptosis of aortic vascular smooth muscle
            cells by targeting EPAS1/SLC3A2 pathway
  JOURNAL   Cell Mol Biol Lett 27 (1), 40 (2022)
   PUBMED   35596131
  REMARK    GeneRIF: HCMV-miR-US33-5p promotes apoptosis of aortic vascular
            smooth muscle cells by targeting EPAS1/SLC3A2 pathway. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 1885)
  AUTHORS   Saito Y, Matsuda S, Ohnishi N, Endo K, Ashitani S, Ohishi M, Ueno A,
            Tomita M, Ueda K, Soga T and Muthuswamy SK.
  TITLE     Polarity protein SCRIB interacts with SLC3A2 to regulate
            proliferation and tamoxifen resistance in ER+ breast cancer
  JOURNAL   Commun Biol 5 (1), 403 (2022)
   PUBMED   35501367
  REMARK    GeneRIF: Polarity protein SCRIB interacts with SLC3A2 to regulate
            proliferation and tamoxifen resistance in ER+ breast cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1885)
  AUTHORS   Lindsten T, June CH, Thompson CB and Leiden JM.
  TITLE     Regulation of 4F2 heavy-chain gene expression during normal human
            T-cell activation can be mediated by multiple distinct molecular
            mechanisms
  JOURNAL   Mol Cell Biol 8 (9), 3820-3826 (1988)
   PUBMED   3265471
REFERENCE   7  (bases 1 to 1885)
  AUTHORS   Gottesdiener KM, Karpinski BA, Lindsten T, Strominger JL, Jones NH,
            Thompson CB and Leiden JM.
  TITLE     Isolation and structural characterization of the human 4F2
            heavy-chain gene, an inducible gene involved in T-lymphocyte
            activation
  JOURNAL   Mol Cell Biol 8 (9), 3809-3819 (1988)
   PUBMED   3265470
REFERENCE   8  (bases 1 to 1885)
  AUTHORS   Quackenbush,E., Clabby,M., Gottesdiener,K.M., Barbosa,J.,
            Jones,N.H., Strominger,J.L., Speck,S. and Leiden,J.M.
  TITLE     Molecular cloning of complementary DNAs encoding the heavy chain of
            the human 4F2 cell-surface antigen: a type II membrane glycoprotein
            involved in normal and neoplastic cell growth
  JOURNAL   Proc Natl Acad Sci U S A 84 (18), 6526-6530 (1987)
   PUBMED   3476959
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1987 Dec;84(23):8618]
REFERENCE   9  (bases 1 to 1885)
  AUTHORS   Teixeira,S., Di Grandi,S. and Kuhn,L.C.
  TITLE     Primary structure of the human 4F2 antigen heavy chain predicts a
            transmembrane protein with a cytoplasmic NH2 terminus
  JOURNAL   J Biol Chem 262 (20), 9574-9580 (1987)
   PUBMED   3036867
REFERENCE   10  (bases 1 to 1885)
  AUTHORS   Michalak,M., Quackenbush,E.J. and Letarte,M.
  TITLE     Inhibition of Na+/Ca2+ exchanger activity in cardiac and skeletal
            muscle sarcolemmal vesicles by monoclonal antibody 44D7
  JOURNAL   J Biol Chem 261 (1), 92-95 (1986)
   PUBMED   2416754
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.44312.1,
            SRR3476690.380893.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000338663.12/ ENSP00000340815.7
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX443653.2 and AB018010.1.
            On Jun 2, 2019 this sequence version replaced NM_001013251.2.
            Summary: This gene is a member of the solute carrier family and
            encodes a cell surface, transmembrane protein. The protein exists
            as the heavy chain of a heterodimer, covalently bound through
            di-sulfide bonds to one of several possible light chains. The
            encoded transporter plays a role in regulation of intracellular
            calcium levels and transports L-type amino acids. Alternatively
            spliced transcript variants, encoding different isoforms, have been
            characterized. [provided by RefSeq, Nov 2010].
            Transcript Variant: This variant (6) differs in the 5' UTR and
            lacks several in-frame exons of the 5' coding region, compared to
            variant 2. These differences cause translation initiation at a
            downstream ATG and an isoform (f) with a shorter N-terminus
            compared to isoform b.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1885
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     gene            1..1885
                     /gene="SLC3A2"
                     /gene_synonym="4F2; 4F2HC; 4T2HC; CD98; CD98HC; MDU1;
                     NACAE"
                     /note="solute carrier family 3 member 2"
                     /db_xref="GeneID:6520"
                     /db_xref="HGNC:HGNC:11026"
                     /db_xref="MIM:158070"
     misc_feature    9..11
                     /gene="SLC3A2"
                     /gene_synonym="4F2; 4F2HC; 4T2HC; CD98; CD98HC; MDU1;
                     NACAE"
                     /note="upstream in-frame stop codon"
     CDS             129..1718
                     /gene="SLC3A2"
                     /gene_synonym="4F2; 4F2HC; 4T2HC; CD98; CD98HC; MDU1;
                     NACAE"
                     /note="isoform f is encoded by transcript variant 6;
                     antigen identified by monoclonal antibodies 4F2, TRA1.10,
                     TROP4, and T43; solute carrier family 3 (amino acid
                     transporter heavy chain), member 2; solute carrier family 3
                     (activators of dibasic and neutral amino acid transport),
                     member 2; antigen defined by monoclonal antibody 4F2, heavy
                     chain; CD98 heavy chain; monoclonal antibody 44D7; 4F2
                     cell-surface antigen heavy chain; lymphocyte activation
                     antigen 4F2 large subunit; amino acid transporter heavy
                     chain SLC3A2"
                     /codon_start=1
                     /product="amino acid transporter heavy chain SLC3A2 isoform
                     f"
                     /protein_id="NP_001013269.1"
                     /db_xref="CCDS:CCDS31590.1"
                     /db_xref="GeneID:6520"
                     /db_xref="HGNC:HGNC:11026"
                     /db_xref="MIM:158070"
                     /translation="MSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKI
                     KVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIV
                     RAPRCRELPAQKWWHTGALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPI
                     HKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQV
                     DTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNS
                     SDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLL
                     TSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIP
                     GAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQ
                     NERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQPGREEGSPLELERLKLEP
                     HEGLLLRFPYAA"
     regulatory      1860..1865
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC3A2"
                     /gene_synonym="4F2; 4F2HC; 4T2HC; CD98; CD98HC; MDU1;
                     NACAE"
                     /note="hexamer: AATAAA"
     polyA_site      1885
                     /gene="SLC3A2"
                     /gene_synonym="4F2; 4F2HC; 4T2HC; CD98; CD98HC; MDU1;
                     NACAE"
                     /note="major polyA site"
ORIGIN
        1 agatgcagta gccgaaactg cgcggaggca cagaggccgg ggagagcgtt ctgggtccga
       61 gggtccaggt aggggttgag ccaccatctg accgcaagct gcgtcgtgtc gccggttctg
      121 caggcaccat gagccaggac accgaggtgg atatgaagga ggtggagctg aatgagttag
      181 agcccgagaa gcagccgatg aacgcggcgt ctggggcggc catgtccctg gcgggagccg
      241 agaagaatgg tctggtgaag atcaaggtgg cggaagacga ggcggaggcg gcagccgcgg
      301 ctaagttcac gggcctgtcc aaggaggagc tgctgaaggt ggcaggcagc cccggctggg
      361 tacgcacccg ctgggcactg ctgctgctct tctggctcgg ctggctcggc atgcttgctg
      421 gtgccgtggt cataatcgtg cgagcgccgc gttgtcgcga gctaccggcg cagaagtggt
      481 ggcacacggg cgccctctac cgcatcggcg accttcaggc cttccagggc cacggcgcgg
      541 gcaacctggc gggtctgaag gggcgtctcg attacctgag ctctctgaag gtgaagggcc
      601 ttgtgctggg tccaattcac aagaaccaga aggatgatgt cgctcagact gacttgctgc
      661 agatcgaccc caattttggc tccaaggaag attttgacag tctcttgcaa tcggctaaaa
      721 aaaagagcat ccgtgtcatt ctggacctta ctcccaacta ccggggtgag aactcgtggt
      781 tctccactca ggttgacact gtggccacca aggtgaagga tgctctggag ttttggctgc
      841 aagctggcgt ggatgggttc caggttcggg acatagagaa tctgaaggat gcatcctcat
      901 tcttggctga gtggcaaaat atcaccaagg gcttcagtga agacaggctc ttgattgcgg
      961 ggactaactc ctccgacctt cagcagatcc tgagcctact cgaatccaac aaagacttgc
     1021 tgttgactag ctcatacctg tctgattctg gttctactgg ggagcataca aaatccctag
     1081 tcacacagta tttgaatgcc actggcaatc gctggtgcag ctggagtttg tctcaggcaa
     1141 ggctcctgac ttccttcttg ccggctcaac ttctccgact ctaccagctg atgctcttca
     1201 ccctgccagg gacccctgtt ttcagctacg gggatgagat tggcctggat gcagctgccc
     1261 ttcctggaca gcctatggag gctccagtca tgctgtggga tgagtccagc ttccctgaca
     1321 tcccaggggc tgtaagtgcc aacatgactg tgaagggcca gagtgaagac cctggctccc
     1381 tcctttcctt gttccggcgg ctgagtgacc agcggagtaa ggagcgctcc ctactgcatg
     1441 gggacttcca cgcgttctcc gctgggcctg gactcttctc ctatatccgc cactgggacc
     1501 agaatgagcg ttttctggta gtgcttaact ttggggatgt gggcctctcg gctggactgc
     1561 aggcctccga cctgcctgcc agcgccagcc tgccagccaa ggctgacctc ctgctcagca
     1621 cccagccagg ccgtgaggag ggctcccctc ttgagctgga acgcctgaaa ctggagcctc
     1681 acgaagggct gctgctccgc ttcccctacg cggcctgact tcagcctgac atggacccac
     1741 tacccttctc ctttccttcc caggcccttt ggcttctgat ttttctcttt tttaaaaaca
     1801 aacaaacaaa ctgttgcaga ttatgagtga acccccaaat agggtgtttt ctgccttcaa
     1861 ataaaagtca cccctgcatg gtgaa
//
LOCUS       NM_001013354             981 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 11 subfamily H member 12
            (OR11H12), mRNA.
ACCESSION   NM_001013354
VERSION     NM_001013354.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 981)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz
            TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha
            SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA,
            McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley
            KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM,
            Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan
            A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko
            Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC,
            Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS,
            Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones
            SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000550708.2/ ENSP00000449002.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CR383656.1.
            On Mar 20, 2005 this sequence version replaced XM_495967.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..981
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..981
                     /gene="OR11H12"
                     /note="olfactory receptor family 11 subfamily H member 12"
                     /db_xref="GeneID:440153"
                     /db_xref="HGNC:HGNC:30738"
     CDS             1..981
                     /gene="OR11H12"
                     /codon_start=1
                     /product="olfactory receptor 11H12"
                     /protein_id="NP_001013372.1"
                     /db_xref="CCDS:CCDS32017.1"
                     /db_xref="GeneID:440153"
                     /db_xref="HGNC:HGNC:30738"
                     /translation="MCPLTLQVTGLMNVSEPNSSFAFVNEFILQGFTCEWTIQIFLFSL
                     FTTTYALTITGNGAIAFVLWCDWRLHTPMYMFLGNFSFLEIWYVSSTVPKMLVNFLSEK
                     KNISFAGCFLQFYFFFSLGTSECLLLTVMAFDQYLAICRPLLYPNIMTGHLCAKLVILC
                     WVCGFLWFLIPIVLISQMPFCGPNIIDHVVCDPGPRFALDCVSAPRIQLFCYTLSSLVI
                     FGNFLFIIGSYTLVLKAVLGMPSSTGRHKAFSTCGSHLAVVSLCYSSLMVMYVSPGLGH
                     STGMQKIETLFYAMVTPLFNPLIYSLQNKEIKAALRKVLGSSNII"
     misc_feature    37..39
                     /gene="OR11H12"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (B2RN74.1); glycosylation site"
     misc_feature    52..54
                     /gene="OR11H12"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (B2RN74.1); glycosylation site"
     misc_feature    133..195
                     /gene="OR11H12"
                     /note="propagated from UniProtKB/Swiss-Prot (B2RN74.1);
                     transmembrane region"
     misc_feature    217..279
                     /gene="OR11H12"
                     /note="propagated from UniProtKB/Swiss-Prot (B2RN74.1);
                     transmembrane region"
     misc_feature    316..318
                     /gene="OR11H12"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (B2RN74.1); glycosylation site"
     misc_feature    337..399
                     /gene="OR11H12"
                     /note="propagated from UniProtKB/Swiss-Prot (B2RN74.1);
                     transmembrane region"
     misc_feature    475..537
                     /gene="OR11H12"
                     /note="propagated from UniProtKB/Swiss-Prot (B2RN74.1);
                     transmembrane region"
     misc_feature    649..711
                     /gene="OR11H12"
                     /note="propagated from UniProtKB/Swiss-Prot (B2RN74.1);
                     transmembrane region"
     misc_feature    778..840
                     /gene="OR11H12"
                     /note="propagated from UniProtKB/Swiss-Prot (B2RN74.1);
                     transmembrane region"
     misc_feature    862..924
                     /gene="OR11H12"
                     /note="propagated from UniProtKB/Swiss-Prot (B2RN74.1);
                     transmembrane region"
ORIGIN
        1 atgtgtccct tgaccttgca ggtcactggc ctaatgaatg tctctgagcc aaattccagc
       61 tttgcttttg taaatgaatt tatactccaa ggtttcactt gtgagtggac aattcagatc
      121 ttcctcttct cactctttac tacaacatat gcactgacta taacagggaa tggagccatt
      181 gcttttgtcc tgtggtgtga ctggcgactt cacactccca tgtacatgtt cctgggaaat
      241 ttctcctttt tagagatatg gtatgtctct tctacagttc ccaagatgtt ggtcaacttc
      301 ctttcagaga aaaaaaacat ctcctttgct ggatgttttc tccagtttta tttcttcttc
      361 tctttgggta catcagaatg cttgcttttg actgtgatgg cctttgatca gtaccttgct
      421 atctgccgtc ccttgctcta tcctaatatc atgactgggc atctctgtgc caaactggtc
      481 atactgtgct gggtttgtgg atttctgtgg ttcctgatcc ccattgttct catctctcag
      541 atgcccttct gtggcccaaa cattattgac catgttgtgt gtgacccagg gccacgattt
      601 gcattggatt gtgtttctgc cccaagaatc caactgtttt gctacactct aagctcatta
      661 gttatttttg gtaacttcct ctttattatt ggatcctata ctcttgtcct gaaagctgtg
      721 ttgggtatgc cttcaagcac tgggagacat aaggccttct ctacctgtgg gtctcatttg
      781 gctgtggtat cactgtgcta tagctctctt atggtcatgt atgtgagccc aggactcgga
      841 cattctacag ggatgcagaa aattgaaact ttgttctatg ctatggtgac cccactcttc
      901 aatcccctta tctatagcct ccagaataag gagataaagg cagccctgag gaaagttctg
      961 ggaagttcca acataatcta a
//
LOCUS       NM_001013355            6084 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens olfactory receptor family 2 subfamily G member 6
            (OR2G6), mRNA.
ACCESSION   NM_001013355
VERSION     NM_001013355.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6084)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 6084)
  AUTHORS   Barnes IHA, Ibarra-Soria X, Fitzgerald S, Gonzalez JM, Davidson C,
            Hardy MP, Manthravadi D, Van Gerven L, Jorissen M, Zeng Z, Khan M,
            Mombaerts P, Harrow J, Logan DW and Frankish A.
  TITLE     Expert curation of the human and mouse olfactory receptor gene
            repertoires identifies conserved coding regions split across two
            exons
  JOURNAL   BMC Genomics 21 (1), 196 (2020)
   PUBMED   32126975
  REMARK    Publication Status: Online-Only
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000641804.1/ ENSP00000493355.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC138089.2, BX537158.6 and AC098483.2.
            On Aug 3, 2020 this sequence version replaced NM_001013355.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6084
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..6084
                     /gene="OR2G6"
                     /note="olfactory receptor family 2 subfamily G member 6"
                     /db_xref="GeneID:391211"
                     /db_xref="HGNC:HGNC:27019"
     misc_feature    337..339
                     /gene="OR2G6"
                     /note="upstream in-frame stop codon"
     CDS             394..1344
                     /gene="OR2G6"
                     /codon_start=1
                     /product="olfactory receptor 2G6"
                     /protein_id="NP_001013373.1"
                     /db_xref="CCDS:CCDS31119.1"
                     /db_xref="GeneID:391211"
                     /db_xref="HGNC:HGNC:27019"
                     /translation="MEETNNSSEKGFLLLGFSDQPQLERFLFAIILYFYVLSLLGNTAL
                     ILVCCLDSRLHTPMYFFLSNLSCVDICFTTSVAPQLLVTMNKKDKTMSYGGCVAQLYVA
                     MGLGSSECILLAVMAYDRYAAVCRPLRYIAIMHPRFCASLAGGAWLSGLITSLIQCSLT
                     VQLPLCGHRTLDHIFCEVPVLIKLACVDTTFNEAELFVASVVFLIVPVLLILVSYGFIT
                     QAVLRIKSAAGRQKAFGTCSSHLVVVIIFYGTIIFMYLQPANRRSKNQGKFVSLFYTIV
                     TPLLNPIIYTLRNKDVKGALRTLILGSAAGQSHKD"
     misc_feature    406..408
                     /gene="OR2G6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5TZ20.1); glycosylation site"
     misc_feature    409..411
                     /gene="OR2G6"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5TZ20.1); glycosylation site"
     misc_feature    469..540
                     /gene="OR2G6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TZ20.1);
                     transmembrane region"
     misc_feature    565..630
                     /gene="OR2G6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TZ20.1);
                     transmembrane region"
     misc_feature    694..753
                     /gene="OR2G6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TZ20.1);
                     transmembrane region"
     misc_feature    811..867
                     /gene="OR2G6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TZ20.1);
                     transmembrane region"
     misc_feature    979..1050
                     /gene="OR2G6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TZ20.1);
                     transmembrane region"
     misc_feature    1102..1170
                     /gene="OR2G6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TZ20.1);
                     transmembrane region"
     misc_feature    1210..1269
                     /gene="OR2G6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TZ20.1);
                     transmembrane region"
     misc_feature    956
                     /gene="OR2G6"
                     /note="Clone_left_end: RP11-438F14"
ORIGIN
        1 gccatacctt aagtctggac catttatccc tgtagggagt ccctcttctc ctctgttctc
       61 tttcagaact acttattact ttaggttcag tgtatgtagc atatggtgac tctatgggtt
      121 tcagttttct gaaccccaaa tatgcaaaaa tatagaaaaa gcagaccagg catcccacct
      181 tctgtgtgcc actaagggag catctcttcc tctttctccc ctaataagtt gtatattatt
      241 ttctcagtat tttaattttt tgctatttat attatctgag atttatcatt ggaatcatac
      301 aaatattaaa ccaggaaaga tcacccagga agaaattgag atcacccaca atatcagtat
      361 ttgaagctga agagtcctga agctgcagga aaaatggagg aaaccaacaa cagctctgaa
      421 aagggatttc ttctcctggg attttcagat cagcctcagc tagagaggtt tctttttgcc
      481 atcattttgt acttctacgt cttgagcctt ctggggaaca ctgccctcat actagtatgt
      541 tgtctggact ccagactcca cactccaatg tacttcttcc tcagcaacct ctcgtgtgtg
      601 gacatctgct ttaccaccag tgttgcccca cagttgctgg ttaccatgaa taagaaagac
      661 aaaaccatga gctacggtgg ctgtgtggcc cagctctatg tggccatggg gttgggctcg
      721 tctgagtgta ttctcttggc cgtcatggct tatgaccgct atgctgctgt ctgccggcca
      781 ctgcgctaca tagccattat gcaccccagg ttctgtgcgt ctctggccgg tggagcatgg
      841 ctcagcggcc tcatcacctc cctaattcag tgctccctca ctgtgcagct gcccctctgt
      901 ggtcatcgca cactggatca tattttctgt gaggtgccag tgctcatcaa actggcctgt
      961 gtggatacga ctttcaacga ggcagaactc tttgtggcca gtgtagtctt tctaattgtc
     1021 ccggtgttac tcatcttagt ctcctatggc tttatcactc aagctgtgtt aaggataaaa
     1081 tcagctgcgg gccgccaaaa ggcctttggg acctgttcgt ctcacctggt tgtggtcatc
     1141 attttctatg ggaccatcat attcatgtac cttcaaccgg ccaataggag atccaaaaac
     1201 cagggaaagt ttgtttctct tttctatacc atagtcaccc cacttttaaa ccccattatc
     1261 tacactctga gaaacaaaga tgtgaaaggg gccttgagga ccctgatact gggtagtgct
     1321 gctggacaaa gccacaagga ctaggaaaca cctggaattc taaacaaggg aaacacctca
     1381 aggcagagtg agggttcatc ctccccagac attcctcttg tcaatcccaa agccacaggg
     1441 actaggaagc attggaattc taaagaaggg aaacacctca aggcagcgtg aggattcatc
     1501 ctccccagac attcctcttg tcaatcccaa agccacaggg actaggaagc attggaattc
     1561 taaagaagag aaacacacca aagcagcatg agggttcatc ctcccagaca ttcctcttgt
     1621 caatccaaga ccctgtgttc tatctggaaa aaaatgtttg tccttcatcc acctgccatc
     1681 aaggttcatg tatccattat ttccttctaa tgtgccagcc catctgatag acttctacta
     1741 atgcttcaaa actcagctga aatgtcacct gcactcacta gctgtcctga aacaccatcc
     1801 ttctcatcct tgtgcagaat taactgtttc ataatatgtt tccatagcac ttgatccaca
     1861 ctaccatttc tacatttcac atttgagata tatgtataca tatatctcta actaggcaaa
     1921 gcaatgtata taacagactg aaaaaataca tgaccatttt cccagaatat gtcactttta
     1981 actggagaat ggaaccatcc cactctattg gcttatttac aacacgagaa acacaaatat
     2041 taagagttgt gatgctttgg ttccacagaa ttgtgggatg caaataatga ctaatatttt
     2101 attaaaggaa tcaaataagc aaacttgaat taaggagatt gattaaaagt tgagtaaaat
     2161 tgccatatac taaaatgtgt tttaacattt atacaaaatt cataaaataa gttattgttt
     2221 ttggccttaa actctggaaa acagttactt atgtaatttt atacttcaaa aatttgaaat
     2281 atgaatccca cacactgtct cacgttaacg atcatagtta tatgtttggt ttccaaaaca
     2341 gcaaaaaaaa tgaaatattt agaagcattt taataaatgt attcttatat ttgaccaaac
     2401 ttttactttc tgatttaatt ctgtctctat ctctctgtgt atctttgtgt gtctcagcct
     2461 ctttcttgct ttcttttccc aaaacgattg aacttcatca attcgtcaac ctcaagtatt
     2521 ttaagagaac tgtgcaatta tagaaaaaag tgatttaatc tgtggttgta attttacttc
     2581 atattctcat tatgatacac atgaaaaaag catgaaaaca tcaatgcaaa tgaagagtaa
     2641 aatgcaggca gaatctgggg tggaagtgga attttcaagt gatttagact tttctttttt
     2701 ggacagggtc ttgctctgtt gcccaggctg gagtgcagtg gctcaatcat ggctcactgc
     2761 agccttgacc tcctgggttt aagtgatccc tctgcctcag ccttccaaca ttcagattta
     2821 taataattca tcctggtgtg agaatattgt agcctgtcta cgaatgttaa ggataacgtt
     2881 tggacctgcc tctcctacca aagcctggac tgaaggcaaa atggctgcgc acacaagaac
     2941 aaaaaggcat caggagaatt cactaatgac tcaggctgcc tcttcacaaa taccctgtcc
     3001 agctggcacc tcttcaatat acttttagca aacaaaatga tgaatatcca atttaacaaa
     3061 aacgagggaa aagaagcctg gttaaatttg tcttctagga tattcttatg tgattttcct
     3121 cctccagtaa tggagaggag agttgggaac tgagcagaac atgctgagga gcacatgttt
     3181 ttatttacaa tatgcaagta gagaagtagt tctacaggaa gcgtcacatg tacaaatgca
     3241 ttattcctga taacccgagc aacacagcat aggaaagaat gtacctgtgt cagagtctca
     3301 atcaatttac atggaatatg gccccagggc aaaagatgtg gcatttaaag gaaagaaata
     3361 gctccaggtg aaaagacaac catgtgtaaa gcaatgatat gaacacaata tgtagaaaaa
     3421 cctacatatg aattgtgaag caaccatttt caaagacaaa ctcacatcca tttaaggtaa
     3481 tatggaatac aaatcccact gaaaataaaa tcaaattatt actgtataca ataaattcaa
     3541 acataattca gaaaaaaata gaatatctgc ttattgctga aattagcatc tttagctgta
     3601 agttatttgc acccaaaagg aaaccagaaa ataatagata taacataggc aaagcaacct
     3661 aaaaaaacta cttaactgca gatgaaaatg ggaacacatt tgaaaataaa atcctgttac
     3721 tactttcttg aatttagagc tttcctatga tatggatatg tttatactgc ttttataatc
     3781 atcatacatg tataatttca tactattttt atttataatg tgagcatttt tctgattaat
     3841 ctaaaaaata tccaccattt attaaaaatc ttccctataa ttgaataaca tgagtagttt
     3901 ctctttttta aatacctaca ttgagcatac ttttgtttgt gaatgcttat aattatgtac
     3961 ttataatgta ttttataaat acaattagta aatctaaaac aggtacacat cagtcaattt
     4021 gcacacatta ctagcttgat ctgcagaaca cgttttcaaa ggatgcgcca agaaaaaaac
     4081 tatcacttag ttaaatgacc attcagtatt gcaattattt aaaaactata caatgagaat
     4141 gctgtaataa gtatatggtt ccaccactcc aaacaccatg aatttttttt aaaagatatt
     4201 tttaagaaaa aataaaatga ttttacataa caaatattaa tgaattcatg aaaaacaaaa
     4261 accatatagg accacagctc agagaagaaa aatgggaggc acttactatt taaaccctaa
     4321 cccaaatggt cagtaaaaag acaagtacca gctactacaa aaaaacacca aaatataaag
     4381 accaatgata ctgtgaagaa actgcattac ctaatgtgca aaataaccag ctagcatcac
     4441 gatgacaaga tcaaattcac acataaaaat attaatctta ggcagggcac agtggctcac
     4501 acttgtaatc atagcacttt gggaggctga gtcaggtgga tcatgaggtc aggagttcaa
     4561 gctcagcctg gccagcatgg tgaaacccca tgtctcctaa aaaaaataca aaaaattagc
     4621 caggcacagt ggtgcatgcc tataatccca gttactcagg aggctgaggc aggagaattg
     4681 cttgaaccta ggaggcagag gttgcagtga gccaagatcg tgccactgta ctccagcctg
     4741 ggcaacagag caagactcca tctcaaaaaa aaaagaaaaa aatgtatatg ttatcacttt
     4801 ggtctcattt gagtatgaat gatcagacag ggaaaataaa agtaccaaga aaaataaaca
     4861 agggtcttat aataaaagca acacagaatg gccaaagcta tcctgagcaa aaagaggaaa
     4921 aaagctggag ccatcacatt actagacttc aaaatatact accaagttat agttaccaaa
     4981 acagcctggt attggcataa aaacagacac atgggccaat agaacagaat ggagaaccta
     5041 gaaatagatt catgtattta cagccaactg atttttgaca aaggtgccaa gaacatacac
     5101 tggggaaagg agagtttctt caataaatgt cctggaacag taatcagcag ctggggctgg
     5161 taccataggg atacttaaag ttgaatttat caattgctgg aagctcatgt gaactaactt
     5221 gacaaataaa aaaaatgttg agccccagtc ttaggaaatc ctccctatac tcatgatttt
     5281 taccttcagg agtctcaaca gcttctcact gtgcaaagta gagagaaatt cccttttgct
     5341 ttggcagaga gaggagaaaa taaacatttg aaatatgccc agagctctct gttcaccata
     5401 acctgatctc agtagtaact atttaatgat tgccattcta actggtgtga gatgatatct
     5461 cattgtggtt ttgatttgca tttctctgat ggccagtgat aatgagcatt ttttcatgtg
     5521 gctgtgggct gcataaatat cttttgagaa gtgtctgttc atatctttcg cccacttttt
     5581 gatgggtttt ttttttcttg taaatttgtt tgagttcttt gtagattctg gatattatcc
     5641 ctttgtcaga tgagtagact gcaaaaattt tctcccattc tctaggttgc ctgtacactc
     5701 tgatggtagt ttcttttgct gtgcagaagc tctttagttt aattagatcc catttgtcaa
     5761 ttttggcttt tgttgccatt gcttttggtg ttttagacat gaagtcctta tccatgccta
     5821 tgtcctgaat ggaattgcct aggttttctt ctagggtttt tatggtttta ggtctaacat
     5881 ttacgtcttt aatccatctt gaattaattt ttgtataagg tgtaaggaag ggatccagtt
     5941 tcagctttct acatatggct agtcagtttt cccagcacca tttgttaaat agggaatcct
     6001 ttccctattt cttgttttgt caggtttgtc aaagatcaga tagttgaaga tgtgtggtat
     6061 tatttcggag ggttctgttc tgtt
//
LOCUS       NM_001013356             960 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily U member 8
            (OR8U8), mRNA.
ACCESSION   NM_001013356
VERSION     NM_001013356.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 960)
  CONSRTM   International Human Genome Sequencing Consortium
  TITLE     Finishing the euchromatic sequence of the human genome
  JOURNAL   Nature 431 (7011), 931-945 (2004)
   PUBMED   15496913
REFERENCE   2  (bases 1 to 960)
  AUTHORS   Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon
            K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford
            A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K,
            Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C,
            Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann Y,
            Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough
            R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman
            R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D,
            Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray
            A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R,
            Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW,
            McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin
            KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL,
            Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ,
            Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning
            S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C,
            Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB,
            Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor
            SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A,
            Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki
            Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F,
            Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR,
            Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J,
            Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu
            J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW,
            Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M,
            Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki
            K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F,
            Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide
            M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R,
            Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P,
            Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley
            RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG,
            Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W,
            Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts
            P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A,
            Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G,
            Schultz J, Slater G, Smit AF, Stupka E, Szustakowki J, Thierry-Mieg
            D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf
            YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J,
            Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P,
            Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ and Szustakowki
            J.
  CONSRTM   International Human Genome Sequencing Consortium
  TITLE     Initial sequencing and analysis of the human genome
  JOURNAL   Nature 409 (6822), 860-921 (2001)
   PUBMED   11237011
  REMARK    Erratum:[Nature 2001 Aug 2;412(6846):565]
COMMENT     ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC208786.2.
            On Jun 19, 2013 this sequence version replaced NM_001013356.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..960
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q11"
     gene            1..960
                     /gene="OR8U8"
                     /note="olfactory receptor family 8 subfamily U member 8"
                     /db_xref="GeneID:504189"
                     /db_xref="HGNC:HGNC:27538"
     CDS             1..960
                     /gene="OR8U8"
                     /codon_start=1
                     /product="olfactory receptor 8U8"
                     /protein_id="NP_001013374.2"
                     /db_xref="GeneID:504189"
                     /db_xref="HGNC:HGNC:27538"
                     /translation="MAHINCTQATEFILVGLTDRQELKMPLFVLFLSIYLFTVVGNLGL
                     ILLIRADTSLNTPMYFFLSNLAFVDFCYSSVITPKMLGNFLYKQNVISFDACATQLGCF
                     LTFMISESLLLASMAYDRYVAICNPLLYMVVMTPGICIQLVAVPYSYSFLMALFHTILT
                     FCLSYCHSNIVNHFYCDDMPLLRLTCSDTRFKQLWILACAGITFICSVLIVFVSYMFII
                     FAILRMSSAEGRRKAFSTCSSHMLAVTIFYGTLIFMYLQPSSSHSLDADKMASVFYTVI
                     IPMLNPLIYSLRNKDVKDALKKVIINRNHAFIFLKLRK"
     misc_feature    13..15
                     /gene="OR8U8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P0C7N1.1); glycosylation site"
     misc_feature    85..147
                     /gene="OR8U8"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N1.1);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR8U8"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N1.1);
                     transmembrane region"
     misc_feature    292..354
                     /gene="OR8U8"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N1.1);
                     transmembrane region"
     misc_feature    367..429
                     /gene="OR8U8"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N1.1);
                     transmembrane region"
     misc_feature    613..675
                     /gene="OR8U8"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N1.1);
                     transmembrane region"
     misc_feature    718..780
                     /gene="OR8U8"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N1.1);
                     transmembrane region"
     misc_feature    814..876
                     /gene="OR8U8"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N1.1);
                     transmembrane region"
ORIGIN
        1 atggctcaca tcaattgcac ccaggcgaca gagtttattc ttgtgggcct cacagatcgt
       61 caggagttga agatgcccct ctttgtgcta ttcttatcca tctacctctt cacagtggta
      121 ggcaacttgg gtttgatcct actcattaga gcggatacaa gtctcaacac accaatgtac
      181 ttctttctta gcaacctagc ttttgtggat ttctgttact cttctgtcat tacacccaaa
      241 atgcttggga atttcttgta caaacaaaat gttatatcct ttgatgcatg tgctactcaa
      301 ctgggctgct ttctcacctt catgatatca gaatccttgc tactggcttc catggcctat
      361 gaccgatatg tggccatttg taaccctcta ttgtatatgg ttgtaatgac tccaggaatc
      421 tgcattcaac ttgtagcagt tccttatagc tatagcttcc taatggcact atttcacacc
      481 atcctcacct tctgcctctc ctattgccac tccaacattg tcaaccattt ctattgtgat
      541 gacatgcctc tcctcaggct aacttgctca gacactcgct tcaaacagct atggattttg
      601 gcctgtgctg gtatcacatt catctgctct gttctgattg tctttgtctc ctacatgttc
      661 attatttttg ccatcctgag gatgagctca gctgaaggaa gacgcaaagc cttctccacc
      721 tgtagctctc acatgctggc agtcaccata ttctatggca ccctgatctt tatgtactta
      781 caaccaagct caagccattc tcttgatgca gacaagatgg cctctgtctt ctacacggtg
      841 attattccca tgttgaatcc cttgatttac agtctcagga acaaagatgt aaaagatgcc
      901 ctgaagaaag tcatcatcaa tagaaaccat gcttttattt ttctgaaact gagaaaatga
//
LOCUS       NM_001013357             930 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens olfactory receptor family 8 subfamily U member 9
            (OR8U9), mRNA.
ACCESSION   NM_001013357
VERSION     NM_001013357.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 930)
  AUTHORS   Wu H, Wang J, Deng R, Xing K, Xiong Y, Huang J, He X and Wang X.
  TITLE     Benefits of random-priming: exhaustive survey of a cDNA library from
            lung tissue of a SARS patient
  JOURNAL   J Med Virol 83 (4), 574-586 (2011)
   PUBMED   21328370
REFERENCE   2  (bases 1 to 930)
  AUTHORS   Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N,
            Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago
            M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam
            DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman
            J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL and Venter JC.
  TITLE     The diploid genome sequence of an individual human
  JOURNAL   PLoS Biol 5 (10), e254 (2007)
   PUBMED   17803354
REFERENCE   3  (bases 1 to 930)
  CONSRTM   International Human Genome Sequencing Consortium
  TITLE     Finishing the euchromatic sequence of the human genome
  JOURNAL   Nature 431 (7011), 931-945 (2004)
   PUBMED   15496913
REFERENCE   4  (bases 1 to 930)
  AUTHORS   Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon
            K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford
            A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K,
            Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C,
            Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann Y,
            Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough
            R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman
            R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D,
            Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray
            A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R,
            Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW,
            McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin
            KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL,
            Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ,
            Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning
            S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C,
            Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB,
            Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor
            SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A,
            Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki
            Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F,
            Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR,
            Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J,
            Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu
            J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW,
            Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M,
            Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki
            K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F,
            Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide
            M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R,
            Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P,
            Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley
            RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG,
            Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W,
            Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts
            P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A,
            Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G,
            Schultz J, Slater G, Smit AF, Stupka E, Szustakowki J, Thierry-Mieg
            D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf
            YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J,
            Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P,
            Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ and Szustakowki
            J.
  CONSRTM   International Human Genome Sequencing Consortium
  TITLE     Initial sequencing and analysis of the human genome
  JOURNAL   Nature 409 (6822), 860-921 (2001)
   PUBMED   11237011
  REMARK    Erratum:[Nature 2001 Aug 2;412(6846):565]
COMMENT     ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from
            AADD01115766.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..930
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q1"
     gene            1..930
                     /gene="OR8U9"
                     /note="olfactory receptor family 8 subfamily U member 9"
                     /db_xref="GeneID:504190"
                     /db_xref="HGNC:HGNC:29166"
     CDS             1..930
                     /gene="OR8U9"
                     /codon_start=1
                     /product="olfactory receptor 8U9"
                     /protein_id="NP_001013375.1"
                     /db_xref="GeneID:504190"
                     /db_xref="HGNC:HGNC:29166"
                     /translation="MTQINCTQVTEFILVGLTDRQELKMPLFVLFLSIYLFTVVGNLGL
                     ILLIRTDEKLNTPMYFFLSNLAFVDFCYSSVITPKMLGNFLYKQNSISFNACAAQLGCF
                     LAFMTAECLLLASMAYDRYVAICNPLMYMVVMSPGICIQLVAAPHSYSILVALFHTILT
                     FRLSYCHSNIVNHFYCDDMPLLRLTCSDTRFKQLWIFACAGIMFISSLLIVFVSYMFII
                     SAILRMHSAEGRQKAFSTCGSHMLAVTIFYGTLIFMYLQPSSSHALDTDKMASVFYTVI
                     IPMLNPLIYSLQNKEVKEALKKIIINKN"
     misc_feature    13..15
                     /gene="OR8U9"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P0C7N5.1); glycosylation site"
     misc_feature    85..147
                     /gene="OR8U9"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N5.1);
                     transmembrane region"
     misc_feature    169..231
                     /gene="OR8U9"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N5.1);
                     transmembrane region"
     misc_feature    292..354
                     /gene="OR8U9"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N5.1);
                     transmembrane region"
     misc_feature    430..492
                     /gene="OR8U9"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N5.1);
                     transmembrane region"
     misc_feature    613..675
                     /gene="OR8U9"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N5.1);
                     transmembrane region"
     misc_feature    718..780
                     /gene="OR8U9"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N5.1);
                     transmembrane region"
     misc_feature    817..879
                     /gene="OR8U9"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N5.1);
                     transmembrane region"
ORIGIN
        1 atgactcaga tcaattgcac ccaggtgaca gagtttattc ttgtgggcct cacagatcgt
       61 caggagttga agatgcccct ctttgtgcta ttcttatcta tctatctttt cacagtagta
      121 ggcaatctgg gtttgatcct actcattaga acagatgaaa aactcaacac accaatgtac
      181 ttctttctta gcaacctagc ttttgtggat ttctgttact cttctgtcat tacacccaaa
      241 atgcttggga atttcttata taaacaaaat agtatttcgt tcaatgcatg tgctgctcag
      301 ttaggctgtt tcctggcctt catgacggct gagtgcttgc tactggcttc catggcctat
      361 gaccgatatg tggccatttg taaccctctg atgtatatgg tggtaatgtc cccaggaatc
      421 tgcattcagc ttgtggctgc tccccatagc tatagcatct tggttgcact gtttcacacc
      481 atcctcacct tccgcctctc ctattgccac tccaacattg tcaaccattt ctattgtgat
      541 gacatgcctc tcctcaggct aacttgctca gacactcgct tcaaacagct ctggatcttt
      601 gcctgtgctg gtatcatgtt catttcctcc cttctgattg tctttgtctc ctacatgttc
      661 atcatttctg ccatcctgag gatgcattca gctgagggaa gacagaaggc tttctcgacg
      721 tgtggctctc acatgctggc agtcaccata ttctatggga ccctcatttt tatgtactta
      781 cagcctagct ctagccatgc cctggacaca gacaagatgg cctctgtctt ctacacagtg
      841 atcattccca tgttgaatcc cttaatctat agcctccaga ataaggaggt gaaagaagct
      901 ctgaagaaaa tcattatcaa taaaaactag
//
LOCUS       NM_001013358             918 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens olfactory receptor family 9 subfamily G member 9
            (OR9G9), mRNA.
ACCESSION   NM_001013358
VERSION     NM_001013358.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 918)
  CONSRTM   International Human Genome Sequencing Consortium
  TITLE     Finishing the euchromatic sequence of the human genome
  JOURNAL   Nature 431 (7011), 931-945 (2004)
   PUBMED   15496913
REFERENCE   2  (bases 1 to 918)
  AUTHORS   Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon
            K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford
            A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K,
            Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C,
            Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann Y,
            Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough
            R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman
            R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D,
            Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray
            A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R,
            Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW,
            McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin
            KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL,
            Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ,
            Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning
            S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C,
            Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB,
            Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor
            SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A,
            Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki
            Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F,
            Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR,
            Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J,
            Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu
            J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW,
            Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M,
            Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki
            K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F,
            Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide
            M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R,
            Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P,
            Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley
            RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG,
            Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W,
            Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts
            P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A,
            Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G,
            Schultz J, Slater G, Smit AF, Stupka E, Szustakowki J, Thierry-Mieg
            D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf
            YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J,
            Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P,
            Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ and Szustakowki
            J.
  CONSRTM   International Human Genome Sequencing Consortium
  TITLE     Initial sequencing and analysis of the human genome
  JOURNAL   Nature 409 (6822), 860-921 (2001)
   PUBMED   11237011
  REMARK    Erratum:[Nature 2001 Aug 2;412(6846):565]
COMMENT     ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC213223.1.
            On or before Aug 31, 2013 this sequence version replaced
            XM_003960866.1, NM_001013358.1.
            Summary: Olfactory receptors interact with odorant molecules in the
            nose, to initiate a neuronal response that triggers the perception
            of a smell. The olfactory receptor proteins are members of a large
            family of G-protein-coupled receptors (GPCR) arising from single
            coding-exon genes. Olfactory receptors share a 7-transmembrane
            domain structure with many neurotransmitter and hormone receptors
            and are responsible for the recognition and G protein-mediated
            transduction of odorant signals. The olfactory receptor gene family
            is the largest in the genome. The nomenclature assigned to the
            olfactory receptor genes and proteins for this organism is
            independent of other organisms. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..918
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q11"
     gene            1..918
                     /gene="OR9G9"
                     /gene_synonym="OR9G1"
                     /note="olfactory receptor family 9 subfamily G member 9"
                     /db_xref="GeneID:504191"
                     /db_xref="HGNC:HGNC:31940"
     CDS             1..918
                     /gene="OR9G9"
                     /gene_synonym="OR9G1"
                     /note="seven transmembrane helix receptor"
                     /codon_start=1
                     /product="olfactory receptor 9G9"
                     /protein_id="NP_001013376.2"
                     /db_xref="GeneID:504191"
                     /db_xref="HGNC:HGNC:31940"
                     /translation="MQRSNHTVTEFILLGFTTDPGMQLGLFVVFLGVYSLTVVGNSTLI
                     VLICNDSHLHTPMYFVVGNLSFLDLWYSSVYTPKILVICISEDKSISFAGCLCQFFFSA
                     GLAYSECCLLAAMAYDRYVAISKPLLYAQAMSIKLCALLVAVSYCGGFINSSIITKKTF
                     SFNFCCENIIDDFFCDLLPLVKLACGEKGGYKFLMYFLLASNVICPAVLILASYLFIIT
                     SVLRISSSQGRLKAFSTCSSHLTSVTLYYGSILYIYALPRSSYSFDMDKIVSTFYTEVL
                     PMLNPMIYSLRNKDVKEALKKLLP"
     misc_feature    13..15
                     /gene="OR9G9"
                     /gene_synonym="OR9G1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P0C7N8.1); glycosylation site"
     misc_feature    82..144
                     /gene="OR9G9"
                     /gene_synonym="OR9G1"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N8.1);
                     transmembrane region"
     misc_feature    193..255
                     /gene="OR9G9"
                     /gene_synonym="OR9G1"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N8.1);
                     transmembrane region"
     misc_feature    289..351
                     /gene="OR9G9"
                     /gene_synonym="OR9G1"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N8.1);
                     transmembrane region"
     misc_feature    415..477
                     /gene="OR9G9"
                     /gene_synonym="OR9G1"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N8.1);
                     transmembrane region"
     misc_feature    601..663
                     /gene="OR9G9"
                     /gene_synonym="OR9G1"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N8.1);
                     transmembrane region"
     misc_feature    718..780
                     /gene="OR9G9"
                     /gene_synonym="OR9G1"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N8.1);
                     transmembrane region"
     misc_feature    814..873
                     /gene="OR9G9"
                     /gene_synonym="OR9G1"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C7N8.1);
                     transmembrane region"
ORIGIN
        1 atgcagagga gcaatcacac agtgactgag tttatactgc tgggcttcac cacagaccca
       61 gggatgcagc tgggcctctt cgtggtgttc ctgggcgtgt actctctcac tgtggtagga
      121 aatagcaccc tcatcgtgtt gatctgtaat gactcccacc tccacacacc catgtatttt
      181 gtcgttggaa atctgtcgtt tctggatctc tggtattctt ctgtctacac cccaaagatc
      241 ctagtgatct gcatctctga agacaaaagc atctcctttg ctggctgcct gtgtcagttc
      301 ttcttctctg cagggctggc ctatagtgag tgctgcttac tggctgccat ggcttatgac
      361 cgctacgtgg ccatctccaa gcccctgctt tatgcccagg ccatgtccat aaagctgtgt
      421 gcattgctgg tagcagtctc atattgtggt ggctttatta actcttcaat catcaccaag
      481 aaaacgtttt cctttaactt ctgctgtgaa aacatcattg atgacttttt ctgtgattta
      541 cttcccttgg tgaagctggc ctgtggcgag aagggcggct ataagtttct gatgtacttc
      601 ctgctggcct ccaatgtcat ctgccccgcg gtgctcatcc tggcctccta cctctttatc
      661 atcaccagtg tcttgaggat ctcctcctcc cagggccgcc tcaaagcctt ctccacatgc
      721 tcctcccacc tgacctctgt cactttatac tatggctcca ttctctacat ctatgctctc
      781 cctagatcta gctattcttt tgatatggac aaaatagttt ctacatttta tactgaggta
      841 ctccccatgt tgaatcccat gatctacagc ctaaggaata aggatgtgaa agaggctctg
      901 aaaaaacttc tcccataa
//
LOCUS       NM_001013403            1279 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.
ACCESSION   NM_001013403
VERSION     NM_001013403.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1279)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1279)
  AUTHORS   Delgado AP, Hamid S, Brandao P and Narayanan R.
  TITLE     A novel transmembrane glycoprotein cancer biomarker present in the X
            chromosome
  JOURNAL   Cancer Genomics Proteomics 11 (2), 81-92 (2014)
   PUBMED   24709545
  REMARK    GeneRIF: The SGPX gene is a putative novel cancer biomarker.
            [Meta-analysis]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.69558.1, BC137148.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370540.2/ ENSP00000359571.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590077.19, BC137148.1 and AA758774.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001013403.2.
            Summary: The protein encoded by this gene is predicted to be a type
            I membrane protein, however, its exact function is not known.
            [provided by RefSeq, Sep 2009].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1279
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq27.1"
     gene            1..1279
                     /gene="CXorf66"
                     /gene_synonym="SGPX"
                     /note="chromosome X open reading frame 66"
                     /db_xref="GeneID:347487"
                     /db_xref="HGNC:HGNC:33743"
     CDS             26..1111
                     /gene="CXorf66"
                     /gene_synonym="SGPX"
                     /note="uncharacterized protein CXorf66; RP11-35F15.2;
                     secreted glycoprotein, X-linked"
                     /codon_start=1
                     /product="uncharacterized protein CXorf66 precursor"
                     /protein_id="NP_001013421.1"
                     /db_xref="CCDS:CCDS35411.1"
                     /db_xref="GeneID:347487"
                     /db_xref="HGNC:HGNC:33743"
                     /translation="MNLVICVLLLSIWKNNCMTTNQTNGSSTTGDKPVESMQTKLNYLR
                     RNLLILVGIIIMVFVFICFCYLHYNCLSDDASKAGMVKKKGIAAKSSKTSFSEAKTASQ
                     CSPETQPMLSTADKSSDSSSPERASAQSSTEKLIRPSSLQKPSIPNSAGKLTRPSYPKR
                     SSKSSCSKKLSKSSHLEKAHKKGSLEKLCKLDYACKLASSDKPVRPPQLFKPLYSSHPQ
                     NEISPSKPFGPQELAKPPKHFNPKRSVSLGRAALLSNSELAETCQPYKKKHLVAKTYRP
                     LVNDISEAKEKNTQNLHVSSKVKSSSRSFRKLDSRNNAYGDHVNDSDTMKYYSEVDSDK
                     VIIITCDRGYNQVTSEVTLND"
     sig_peptide     26..76
                     /gene="CXorf66"
                     /gene_synonym="SGPX"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    95..97
                     /gene="CXorf66"
                     /gene_synonym="SGPX"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5JRM2.1); glycosylation site"
     misc_feature    167..229
                     /gene="CXorf66"
                     /gene_synonym="SGPX"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JRM2.1);
                     transmembrane region"
     misc_feature    320..577
                     /gene="CXorf66"
                     /gene_synonym="SGPX"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JRM2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    650..766
                     /gene="CXorf66"
                     /gene_synonym="SGPX"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JRM2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    908..973
                     /gene="CXorf66"
                     /gene_synonym="SGPX"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JRM2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1260..1265
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CXorf66"
                     /gene_synonym="SGPX"
                     /note="hexamer: AATAAA"
     polyA_site      1279
                     /gene="CXorf66"
                     /gene_synonym="SGPX"
                     /note="major polyA site"
ORIGIN
        1 aaatcatttg aaccaagttg cggacatgaa tcttgttatt tgtgtcctac ttttgtccat
       61 ttggaaaaat aattgcatga ctacaaacca aaccaatgga tcttctacta caggagataa
      121 acctgttgaa tcaatgcaga caaaattgaa ctaccttaga agaaatctac tcattttagt
      181 tggtattatc atcatggttt ttgtctttat ctgtttttgt tatctccatt ataattgtct
      241 gagcgatgat gcgtccaaag caggaatggt caagaaaaaa ggcatagcag ccaagtcatc
      301 taaaacatca ttcagtgaag ccaagacagc ctctcaatgc agtccagaaa cacaacccat
      361 gctatctact gcagacaagt catctgattc atcgagtcca gaaagggcat ccgcacaatc
      421 cagcacagaa aaattaatca gaccctcaag tctacaaaag ccatccatac caaacagtgc
      481 aggaaagtta actaggccat catatccaaa aaggtcatcc aagtcatcat gctcaaaaaa
      541 attaagcaag tcatctcacc tggaaaaggc acataagaaa ggcagcctag aaaaattatg
      601 taagctagac tatgcgtgta agctagccag ttcagataag ccagtcaggc cacctcagct
      661 attcaagcca ctttattcat ctcatccaca aaatgaaatc tcaccatcca agccattcgg
      721 tccacaggaa ttggctaagc ctcccaaaca ttttaatcca aaaaggtcag tgagtctagg
      781 cagggcagcc ttattatcca actctgaatt agctgaaact tgtcaaccct acaagaaaaa
      841 acatcttgtt gccaaaactt ataggccttt ggtcaatgat atttctgagg caaaggagaa
      901 aaacactcaa aacctacatg tttcaagcaa agtcaagtcc tcttccaggt cctttcgtaa
      961 gttagattcc aggaacaatg catacggtga tcatgtgaat gacagtgata cgatgaaata
     1021 ttatagtgag gttgacagtg ataaagttat aatcattacg tgtgacagag ggtacaatca
     1081 agtcacctct gaagtaaccc taaatgatta ggagctcaac aaaaataaaa tccaagtgtg
     1141 aaagagcaaa cttataccaa ctattttatg ctcatcatcc cttaagaaac cagtagaggg
     1201 aaaaatcact atcaagatca cccatatctg tcttggaggc gatttatttt aaaaatatca
     1261 ataaaatgca tgacataaa
//
LOCUS       NM_001013407            1855 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens PRAME family member 5 (PRAMEF5), mRNA.
ACCESSION   NM_001013407
VERSION     NM_001013407.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1855)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (bases 1 to 1855)
  AUTHORS   Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A,
            Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C,
            Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K,
            Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C,
            Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell
            RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G,
            Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye
            J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V,
            Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M,
            Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J,
            French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM,
            Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S,
            Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD,
            Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood
            J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa
            M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S,
            Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R,
            Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S,
            Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K,
            Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan
            S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G,
            Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce
            CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans
            A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL,
            Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z,
            Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R,
            Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S,
            Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD,
            Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF,
            Pandian RD, Porter KM and Prigmore E.
  TITLE     The DNA sequence and biological annotation of human chromosome 1
  JOURNAL   Nature 441 (7091), 315-321 (2006)
   PUBMED   16710414
  REMARK    Erratum:[Nature. 2006 Oct 26;443(7114):1013. Banerjee, R [added];
            Bryant, SP [added]; Burford, DC [added]; Burrill, WDH [added];
            Clegg, SM [added]; Dhami, P [added]; Dovey, O [added]; Faulkner, LM
            [added]; Gribble, SM [added]; Langford, CF [added]; Pandian, RD
            [added]; Porter, KM [added]; Prigmore, E]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC130274.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000622421.3/ ENSP00000480122.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC244216.2.
            On Sep 9, 2021 this sequence version replaced NM_001013407.4.
FEATURES             Location/Qualifiers
     source          1..1855
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..1855
                     /gene="PRAMEF5"
                     /gene_synonym="PRAMEF23; PRAMEF5L"
                     /note="PRAME family member 5"
                     /db_xref="GeneID:343068"
                     /db_xref="HGNC:HGNC:27995"
     CDS             101..1531
                     /gene="PRAMEF5"
                     /gene_synonym="PRAMEF23; PRAMEF5L"
                     /note="PRAME family member 23"
                     /codon_start=1
                     /product="PRAME family member 5"
                     /protein_id="NP_001013425.2"
                     /db_xref="CCDS:CCDS72708.1"
                     /db_xref="GeneID:343068"
                     /db_xref="HGNC:HGNC:27995"
                     /translation="MSIRTPPRLLELAGRSLLRDQALAMSTLEELPTELFPPLFMEAFS
                     RRRCEALKLMVQAWPFRRLPLRPLIKMPCLEAFQAVLDGLDALLTQGVHPRRWKLQVLD
                     LQDVCENFWMVWSEAMAHGCFLNAKRNKKPVQDCPRMRGQQPLTVFVELWLKNRTLDEY
                     LTCLLLWVKQRKDLLHLCCKKLKILGMPFRNIRSILKMVNLDCIQEVEVNCKWVLPILT
                     QFTPYLGHMRNLQKLVLSHMDVSRYVSPEQKKEIVTQFTTQFLKLCCLQKLSMNSVSFL
                     EGHLDQLLSCLKTSLKVLTITNCVLLESDLKHLSQCPSISQLKTLDLSGIRLTNYSLVP
                     LQILLEKVAATLEYLDLDDCGIIDSQVNAILPALSRCFELNTFSFCGNPISMATLENLL
                     SHTIILKNLCVELYPAPRESYDADGTLCWSRFPQIRAELMKRVRDLRHPKRILFCTDCC
                     PDCGNRSFYDLEADQCCC"
     misc_feature    389..472
                     /gene="PRAMEF5"
                     /gene_synonym="PRAMEF23; PRAMEF5L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2);
                     Region: LRR 1, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    635..709
                     /gene="PRAMEF5"
                     /gene_synonym="PRAMEF23; PRAMEF5L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2);
                     Region: LRR 2, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    710..790
                     /gene="PRAMEF5"
                     /gene_synonym="PRAMEF23; PRAMEF5L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2);
                     Region: LRR 3, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    791..898
                     /gene="PRAMEF5"
                     /gene_synonym="PRAMEF23; PRAMEF5L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2);
                     Region: LRR 4, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    899..976
                     /gene="PRAMEF5"
                     /gene_synonym="PRAMEF23; PRAMEF5L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2);
                     Region: LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    977..1072
                     /gene="PRAMEF5"
                     /gene_synonym="PRAMEF23; PRAMEF5L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2);
                     Region: LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1073..1135
                     /gene="PRAMEF5"
                     /gene_synonym="PRAMEF23; PRAMEF5L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2);
                     Region: LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1145..1228
                     /gene="PRAMEF5"
                     /gene_synonym="PRAMEF23; PRAMEF5L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2);
                     Region: LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1229..1303
                     /gene="PRAMEF5"
                     /gene_synonym="PRAMEF23; PRAMEF5L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2);
                     Region: LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
ORIGIN
        1 acccaaagtc ttcaagcctg gagttcctgc ttggttcttc ctgaggactg agcaccttct
       61 agactacatc cagatctgtt ttccctgcag attcgtgaag atgagcatcc ggactccacc
      121 cagactcctg gagcttgcag ggcggagcct gctgagggac caagccttgg ccatgtccac
      181 cctggaggag ctgcccacag aacttttccc cccactgttc atggaggcct tcagcaggag
      241 acgctgtgag gccctgaagc tgatggtgca ggcctggccc ttccgccgcc tccctctgag
      301 gcctctgata aagatgcctt gtctggaggc cttccaagct gtgctcgatg ggctggatgc
      361 actgcttacc caaggggttc atcccaggag gtggaaactt caagtgctgg atttacagga
      421 tgtctgtgag aacttctgga tggtttggtc tgaagctatg gcccatgggt gcttcctcaa
      481 tgccaagagg aacaaaaaac cagtgcagga ctgtccaagg atgagaggac agcagccctt
      541 gactgtgttc gtagaacttt ggctcaagaa caggactctg gatgaatacc tcacctgcct
      601 ccttctatgg gtcaagcaga ggaaagattt actacacctg tgctgtaaga agctgaaaat
      661 tttgggaatg cccttccgca atatcagaag catcctgaaa atggtgaacc tagactgtat
      721 ccaggaggtg gaagtgaatt gcaagtgggt actgcccatc ctgacacagt ttaccccata
      781 cctgggccac atgaggaatc ttcagaagct cgttctctcc cacatggatg tctctcgcta
      841 cgtttcccca gagcagaaga aggagattgt tacccagttc accactcagt tcctcaagct
      901 gtgctgcctc caaaagcttt ctatgaactc tgtttctttc ctcgaaggcc acctggacca
      961 gctgctcagc tgtctgaaga cctcgttaaa ggtcctcaca ataactaact gtgtgctttt
     1021 ggaatcagac ttgaagcatc tatcccagtg cccgagtatc agtcaactaa agaccctgga
     1081 cctgagtggc atcagactga ccaattacag tcttgtgcct ctccaaattc tcctagaaaa
     1141 agttgcagcc acccttgagt acctggattt agatgactgt ggcatcatag actcccaagt
     1201 caacgccatc ctgcctgccc tgagccgctg ctttgagctc aacaccttca gcttctgtgg
     1261 aaatcccatc tccatggcca ccctggagaa cctgctgagc cacacaatca tactcaaaaa
     1321 cttatgcgtg gagctgtatc ctgccccccg ggagagttat gatgctgatg gtactctctg
     1381 ctggagcaga tttcctcaaa ttagggctga gctgatgaag agagtgaggg acttaaggca
     1441 ccccaagagg atcttgttct gtactgactg ctgccctgac tgtggcaaca ggtcatttta
     1501 tgacctggag gcagatcaat gctgctgttg aatgcctgcc tatttgggtg gatatgtcaa
     1561 acgctttctt ctggacactt ggaaactaaa acctaggtct taggtacatc ctatagggag
     1621 cacagaaccc atcatttcac acatgggctc tgaaagtggg aaaggaaagg tgatcaagca
     1681 ggggcaggac ttgggggaag tgttgccatg gattcgatgg gactttgggg acctgtgtcc
     1741 tgtagagtgg aaaatgggaa tttgaatgtc tagagtggag gcttgagaat acttgaggga
     1801 gttactcttg gatgcatggt tgtaaagaaa caatcagaaa taaaggaaaa ctgag
//
LOCUS       NM_001013435             553 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens PAGE family member 5 (PAGE5), transcript variant 2,
            mRNA.
ACCESSION   NM_001013435
VERSION     NM_001013435.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 553)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 553)
  AUTHORS   Nylund C, Rappu P, Pakula E, Heino A, Laato L, Elo LL, Vihinen P,
            Pyrhonen S, Owen GR, Larjava H, Kallajoki M and Heino J.
  TITLE     Melanoma-associated cancer-testis antigen 16 (CT16) regulates the
            expression of apoptotic and antiapoptotic genes and promotes cell
            survival
  JOURNAL   PLoS One 7 (9), e45382 (2012)
   PUBMED   23028975
  REMARK    GeneRIF: Results indicate that CT16 promotes the survival of
            melanoma cells and is therefore a potential target for future drug
            development.
REFERENCE   3  (bases 1 to 553)
  AUTHORS   Rappu P, Nylund C, Ristiniemi N, Kulpakko J, Vihinen P, Hernberg M,
            Mirtti T, Alanen K, Kallajoki M, Vuoristo MS, Pyrhonen S and Heino
            J.
  TITLE     Detection of melanoma-derived cancer-testis antigen CT16 in patient
            sera by a novel immunoassay
  JOURNAL   Int J Cancer 128 (10), 2382-2392 (2011)
   PUBMED   20658534
REFERENCE   4  (bases 1 to 553)
  AUTHORS   Lee OH, Kim H, He Q, Baek HJ, Yang D, Chen LY, Liang J, Chae HK,
            Safari A, Liu D and Songyang Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   5  (bases 1 to 553)
  AUTHORS   Hellman M, Tossavainen H, Rappu P, Heino J and Permi P.
  TITLE     Characterization of intrinsically disordered prostate associated
            gene (PAGE5) at single residue resolution by NMR spectroscopy
  JOURNAL   PLoS One 6 (11), e26633 (2011)
   PUBMED   22073178
REFERENCE   6  (bases 1 to 553)
  AUTHORS   Takagaki K, Katsuma S, Horio T, Kaminishi Y, Hada Y, Tanaka T, Ohgi
            T and Yano J.
  TITLE     cDNA microarray analysis of altered gene expression in Ara-C-treated
            leukemia cells
  JOURNAL   Biochem Biophys Res Commun 309 (2), 351-358 (2003)
   PUBMED   12951057
REFERENCE   7  (bases 1 to 553)
  AUTHORS   Zendman AJ, Van Kraats AA, Weidle UH, Ruiter DJ and Van Muijen GN.
  TITLE     The XAGE family of cancer/testis-associated genes: alignment and
            expression profile in normal tissues, melanoma lesions and Ewing's
            sarcoma
  JOURNAL   Int J Cancer 99 (3), 361-369 (2002)
   PUBMED   11992404
REFERENCE   8  (bases 1 to 553)
  AUTHORS   Scanlan MJ, Gordon CM, Williamson B, Lee SY, Chen YT, Stockert E,
            Jungbluth A, Ritter G, Jager D, Jager E, Knuth A and Old LJ.
  TITLE     Identification of cancer/testis genes by database mining and mRNA
            expression analysis
  JOURNAL   Int J Cancer 98 (4), 485-492 (2002)
   PUBMED   11920606
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BG476118.1, BE896256.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374955.8/ ENSP00000364093.3
            RefSeq Select criteria      :: based on expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL158819.14, BP429046.1 and
            BQ437151.1.
            On Jul 12, 2018 this sequence version replaced NM_001013435.2.
            Summary: This gene is a member of family of proteins that are
            expressed in a variety of tumors and in some fetal and reproductive
            tissues. The encoded protein may protect cells from programmed cell
            death. Multiple alternatively spliced transcript variants encoding
            distinct isoforms have been found. [provided by RefSeq, Jan 2015].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..553
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.21"
     gene            1..553
                     /gene="PAGE5"
                     /gene_synonym="CT16; CT16.1; CT16.2; GAGEE1; PAGE-5"
                     /note="PAGE family member 5"
                     /db_xref="GeneID:90737"
                     /db_xref="HGNC:HGNC:29992"
                     /db_xref="MIM:301009"
     CDS             116..448
                     /gene="PAGE5"
                     /gene_synonym="CT16; CT16.1; CT16.2; GAGEE1; PAGE-5"
                     /note="isoform 2 is encoded by transcript variant 2;
                     cancer/testis antigen family 16, member 1; cancer/testis
                     antigen family 16, member 2; P antigen family, member 5
                     (prostate associated); g antigen family E member 1;
                     cancer/testis antigen 16.1; prostate-associated gene 5
                     protein; P antigen family member 5"
                     /codon_start=1
                     /product="P antigen family member 5 isoform 2"
                     /protein_id="NP_001013453.1"
                     /db_xref="CCDS:CCDS35306.1"
                     /db_xref="GeneID:90737"
                     /db_xref="HGNC:HGNC:29992"
                     /db_xref="MIM:301009"
                     /translation="MSEHVTRSQSSERGNDQESSQPVGPVIVQQPTEEKRQEEEPPTDN
                     QGIAPSGEIKNEGAPAVQGTDVEAFQQELALLKIEDAPGDGPDVREGTLPTFDPTKVLE
                     AGEGQL"
     regulatory      526..531
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAGE5"
                     /gene_synonym="CT16; CT16.1; CT16.2; GAGEE1; PAGE-5"
                     /note="hexamer: AATAAA"
     polyA_site      553
                     /gene="PAGE5"
                     /gene_synonym="CT16; CT16.1; CT16.2; GAGEE1; PAGE-5"
                     /note="major polyA site"
ORIGIN
        1 cttctgtcta ggcagagctc tgcaaggaga ggttgtgtct tcgttctttc cgccatcttc
       61 gttctttcca acatcttcgt tctttctcac tgaccgagac tcagccgtga gagatatgag
      121 tgagcatgta acaagatccc aatcctcaga aagaggaaat gaccaagagt cttcccagcc
      181 agttggacct gtgattgtcc agcagcccac tgaggaaaaa cgtcaagaag aggaaccacc
      241 aactgataat cagggtattg cacctagtgg ggagatcaaa aatgaaggag cacctgctgt
      301 tcaagggact gatgtggaag cttttcaaca ggaactggct ctgcttaaga tagaggatgc
      361 acctggagat ggtcctgatg tcagggaggg gactctgccc acttttgatc ccactaaagt
      421 gctggaagca ggtgaagggc aactataggt ttaaaccaag acaaatgaag actgaaacca
      481 agaatattgt tcttatgctg gaaatttgac tgctaacatt ctcttaataa agttttacag
      541 ttttctgcaa aga
//
LOCUS       NM_001013437            1851 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens SEH1 like nucleoporin (SEH1L), transcript variant 1,
            mRNA.
ACCESSION   NM_001013437
VERSION     NM_001013437.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1851)
  AUTHORS   Jiang C, Dai X, He S, Zhou H, Fang L, Guo J, Liu S, Zhang T, Pan W,
            Yu H, Fu T, Li D, Inuzuka H, Wang P, Xiao J and Wei W.
  TITLE     Ring domains are essential for GATOR2-dependent mTORC1 activation
  JOURNAL   Mol Cell 83 (1), 74-89 (2023)
   PUBMED   36528027
REFERENCE   2  (bases 1 to 1851)
  AUTHORS   Valenstein ML, Rogala KB, Lalgudi PV, Brignole EJ, Gu X, Saxton RA,
            Chantranupong L, Kolibius J, Quast JP and Sabatini DM.
  TITLE     Structure of the nutrient-sensing hub GATOR2
  JOURNAL   Nature 607 (7919), 610-616 (2022)
   PUBMED   35831510
REFERENCE   3  (bases 1 to 1851)
  AUTHORS   Platani M, Samejima I, Samejima K, Kanemaki MT and Earnshaw WC.
  TITLE     Seh1 targets GATOR2 and Nup153 to mitotic chromosomes
  JOURNAL   J Cell Sci 131 (9) (2018)
   PUBMED   29618633
  REMARK    GeneRIF: Analysis reveals a role for Seh1 at human centromeres,
            where it is required for efficient localisation of the chromosomal
            passenger complex (CPC). Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1851)
  AUTHORS   Wolfson RL, Chantranupong L, Wyant GA, Gu X, Orozco JM, Shen K,
            Condon KJ, Petri S, Kedir J, Scaria SM, Abu-Remaileh M, Frankel WN
            and Sabatini DM.
  TITLE     KICSTOR recruits GATOR1 to the lysosome and is necessary for
            nutrients to regulate mTORC1
  JOURNAL   Nature 543 (7645), 438-442 (2017)
   PUBMED   28199306
REFERENCE   5  (bases 1 to 1851)
  AUTHORS   Apelt L, Knockenhauer KE, Leksa NC, Benlasfer N, Schwartz TU and
            Stelzl U.
  TITLE     Systematic Protein-Protein Interaction Analysis Reveals
            Intersubcomplex Contacts in the Nuclear Pore Complex
  JOURNAL   Mol Cell Proteomics 15 (8), 2594-2606 (2016)
   PUBMED   27194810
REFERENCE   6  (bases 1 to 1851)
  AUTHORS   Loiodice I, Alves A, Rabut G, Van Overbeek M, Ellenberg J, Sibarita
            JB and Doye V.
  TITLE     The entire Nup107-160 complex, including three new members, is
            targeted as one entity to kinetochores in mitosis
  JOURNAL   Mol Biol Cell 15 (7), 3333-3344 (2004)
   PUBMED   15146057
REFERENCE   7  (bases 1 to 1851)
  AUTHORS   Enninga J, Levay A and Fontoura BM.
  TITLE     Sec13 shuttles between the nucleus and the cytoplasm and stably
            interacts with Nup96 at the nuclear pore complex
  JOURNAL   Mol Cell Biol 23 (20), 7271-7284 (2003)
   PUBMED   14517296
  REMARK    GeneRIF: Sec13 stably interacts with Nup96 at the NPC during
            interphase and the shuttling of Sec13 between the nucleus and the
            cytoplasm may couple and regulate functions between these two
            compartments
REFERENCE   8  (bases 1 to 1851)
  AUTHORS   Le Rouzic E, Mousnier A, Rustum C, Stutz F, Hallberg E, Dargemont C
            and Benichou S.
  TITLE     Docking of HIV-1 Vpr to the nuclear envelope is mediated by the
            interaction with the nucleoporin hCG1
  JOURNAL   J Biol Chem 277 (47), 45091-45098 (2002)
   PUBMED   12228227
REFERENCE   9  (bases 1 to 1851)
  AUTHORS   Cronshaw JM, Krutchinsky AN, Zhang W, Chait BT and Matunis MJ.
  TITLE     Proteomic analysis of the mammalian nuclear pore complex
  JOURNAL   J Cell Biol 158 (5), 915-927 (2002)
   PUBMED   12196509
REFERENCE   10  (bases 1 to 1851)
  AUTHORS   Shiota C, Coffey J, Grimsby J, Grippo JF and Magnuson MA.
  TITLE     Nuclear import of hepatic glucokinase depends upon glucokinase
            regulatory protein, whereas export is due to a nuclear export signal
            sequence in glucokinase
  JOURNAL   J Biol Chem 274 (52), 37125-37130 (1999)
   PUBMED   10601273
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.317301.1,
            SRR1660807.148198.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000399892.7/ ENSP00000382779.1
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB990796.1, AF136976.1,
            BC012430.1 and AK056940.1.
            On Nov 22, 2018 this sequence version replaced NM_001013437.1.
            Summary: The protein encoded by this gene is part of a nuclear pore
            complex, Nup107-160. This protein contains WD repeats and shares
            34% amino acid identity with yeast Seh1 and 30% identity with yeast
            Sec13. All constituents of the Nup107-160 complex, including this
            protein, specifically localize to kinetochores in mitosis. Two
            alternatively spliced transcript variants encoding distinct
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1851
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.21"
     gene            1..1851
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /note="SEH1 like nucleoporin"
                     /db_xref="GeneID:81929"
                     /db_xref="HGNC:HGNC:30379"
                     /db_xref="MIM:609263"
     CDS             112..1377
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /note="isoform 1 is encoded by transcript variant 1; sec13
                     like protein; nucleoporin Seh1; nup107-160 subcomplex
                     subunit SEH1; SEC13-like protein; GATOR complex protein
                     SEH1"
                     /codon_start=1
                     /product="nucleoporin SEH1 isoform 1"
                     /protein_id="NP_001013455.1"
                     /db_xref="CCDS:CCDS32791.1"
                     /db_xref="GeneID:81929"
                     /db_xref="HGNC:HGNC:30379"
                     /db_xref="MIM:609263"
                     /translation="MFVARSIAADHKDLIHDVSFDFHGRRMATCSSDQSVKVWDKSESG
                     DWHCTASWKTHSGSVWRVTWAHPEFGQVLASCSFDRTAAVWEEIVGESNDKLRGQSHWV
                     KRTTLVDSRTSVTDVKFAPKHMGLMLATCSADGIVRIYEAPDVMNLSQWSLQHEISCKL
                     SCSCISWNPSSSRAHSPMIAVGSDDSSPNAMAKVQIFEYNENTRKYAKAETLMTVTDPV
                     HDIAFAPNLGRSFHILAIATKDVRIFTLKPVRKELTSSGGPTKFEIHIVAQFDNHNSQV
                     WRVSWNITGTVLASSGDDGCVRLWKANYMDNWKCTGILKGNGSPVNGSSQQGTSNPSLG
                     STIPSLQNSLNGSSAGRYFFTPLDSPRAGSRWSSYAQLLPPPPPPLVEHSCDADTANLQ
                     YPHPRRRYLSRPLNPLPENEGI"
     misc_feature    139..258
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96EE3.3);
                     Region: WD 1"
     misc_feature    274..399
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96EE3.3);
                     Region: WD 2"
     misc_feature    442..567
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96EE3.3);
                     Region: WD 3"
     misc_feature    589..741
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96EE3.3);
                     Region: WD 4"
     misc_feature    646..648
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96EE3.3); phosphorylation site"
     misc_feature    679..681
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96EE3.3); phosphorylation site"
     misc_feature    760..885
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96EE3.3);
                     Region: WD 5"
     misc_feature    937..1056
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96EE3.3);
                     Region: WD 6"
     regulatory      1820..1825
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /note="hexamer: AATAAA"
     polyA_site      1851
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /note="major polyA site"
ORIGIN
        1 agcacaagcc gtgcgctccc gggctgcgag gtctggctag gctacgggcc acgcgccgcc
       61 gccgctgccg ccgccactgt cctcttcgga ggcgcgggcc cgacggaaac catgtttgtg
      121 gctcgcagca tcgcggcgga ccacaaggat ctcatccacg atgtctcttt cgacttccac
      181 gggcggcgga tggcaacctg ctccagcgat cagagcgtta aggtctggga taaaagtgaa
      241 agtggtgatt ggcattgtac tgctagctgg aagacacata gtggatctgt atggcgtgtg
      301 acatgggccc atcctgaatt tgggcaggtt ttggcttcct gttcttttga ccgaacagct
      361 gctgtatggg aagaaatagt aggagaatca aatgataaac tgcgaggaca gagccactgg
      421 gttaaaagga caactctggt ggatagcaga acatctgtta ctgatgtgaa gtttgctccc
      481 aagcacatgg gtcttatgtt agcaacctgt tccgcagatg gtatagtaag aatctatgag
      541 gcaccagatg ttatgaatct cagccagtgg tctttgcagc atgagatctc atgtaagcta
      601 agctgtagtt gtatttcttg gaacccttca agctctcgtg ctcattcccc catgatcgcc
      661 gtaggaagtg atgacagtag ccccaacgca atggccaagg ttcagatttt tgaatataat
      721 gaaaacacca ggaaatatgc aaaagctgaa actcttatga cagtcactga tcctgttcat
      781 gatattgcat tcgctccaaa tttgggaaga tctttccata ttctagcaat agcgaccaaa
      841 gatgtgagaa tttttacatt aaagcctgtg aggaaagaac tgacttcctc tggtgggcca
      901 acaaagtttg aaatccatat agtggctcag ttcgataatc ataattctca ggtctggcga
      961 gtgagttgga atataacagg aacggtgcta gcatcttcag gagatgatgg gtgtgtaaga
     1021 ttgtggaaag ctaattatat ggacaattgg aagtgtactg gtattttgaa aggtaatggg
     1081 agcccagtca atgggagttc tcagcaggga acctcaaatc cttccctagg ttcaactatt
     1141 ccaagtcttc agaattcatt aaatggatct tctgctggca ggtatttctt tacccctctg
     1201 gattccccac gggctggatc gagatggtcc agttatgccc agctccttcc tcctcctcct
     1261 cctcctctgg tagagcactc ttgcgatgct gacactgcca acctccagta tcctcaccct
     1321 cgcagacgat atctctctcg gcctcttaat cccttacctg agaatgaagg gatttaaaac
     1381 actgatttaa cattgaaagg ccttattcaa gtgcttgtaa atgctttcat ttctggctgc
     1441 tttttgtttt tcattttctt tcagaagatt tttctaactt agggtctgtc ttgcatgtat
     1501 tacaaccaga atacagtgtt tggaacctaa atctgtttgt gcgtctgcat caaaggaaca
     1561 tttgcttcac tgggtgataa cctttgatga aatgagatat gtccaagtaa cgttaactgt
     1621 gaagttacac acagtagctg acttcaaagt gcctgttctg taaattttat tttaaactgt
     1681 taccatagtc ttaagttgtt tatgctttat cagactggct aatgtgaaag cataatatta
     1741 tgaagtttat tctgccttat gagaccttaa aaaatggatt tcattttaca ggctaatgtt
     1801 gtaactgact agtatgtaaa ataaatcatt cctgtgtata aagcagcaaa a
//
LOCUS       NM_001013579            1397 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA.
ACCESSION   NM_001013579
VERSION     NM_001013579.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1397)
  AUTHORS   Turkish AR, Henneberry AL, Cromley D, Padamsee M, Oelkers P, Bazzi
            H, Christiano AM, Billheimer JT and Sturley SL.
  TITLE     Identification of two novel human acyl-CoA wax alcohol
            acyltransferases: members of the diacylglycerol acyltransferase 2
            (DGAT2) gene superfamily
  JOURNAL   J Biol Chem 280 (15), 14755-14764 (2005)
   PUBMED   15671038
  REMARK    GeneRIF: analysis of AWAT1 and AWAT2 substrate specificity and
            differentiation-specific expression pattern
REFERENCE   2  (bases 1 to 1397)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer
            M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL,
            Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME,
            Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R,
            Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson
            A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler
            DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S,
            Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker
            GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O,
            Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman
            AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P,
            Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel
            L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z,
            Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S,
            Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS,
            Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O,
            Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H,
            Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T,
            Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis
            F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner
            G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R,
            Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S,
            Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume
            J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de
            Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis
            P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK,
            Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM,
            Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J,
            Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl
            P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S,
            Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN,
            Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S,
            Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey
            Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG,
            Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD,
            Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann
            RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K,
            Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M,
            Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry
            GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey
            DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L,
            Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S,
            Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A,
            Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM,
            Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R,
            Hubbard T, Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   3  (bases 1 to 1397)
  AUTHORS   Winter A, van Eckeveld M, Bininda-Emonds OR, Habermann FA and Fries
            R.
  TITLE     Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos
            taurus) and other mammals
  JOURNAL   Cytogenet Genome Res 102 (1-4), 42-47 (2003)
   PUBMED   14970677
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY947638.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968968, SAMEA2145893
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374521.4/ ENSP00000363645.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from W68831.1, AY947638.1 and
            BC039181.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001013579.2.
            Summary: The protein encoded by this gene belongs to the
            diacylglycerol acyltransferase family. It esterifies long chain
            (wax) alcohols with acyl-CoA-derived fatty acids to produce wax
            esters. Wax esters are enriched in sebum, suggesting that this
            enzyme plays a central role in lipid metabolism in skin. Consistent
            with this observation, this protein is predominantly expressed in
            the sebaceous gland of the skin. [provided by RefSeq, Sep 2009].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1397
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..1397
                     /gene="AWAT1"
                     /gene_synonym="DGA2; DGAT2L3"
                     /note="acyl-CoA wax alcohol acyltransferase 1"
                     /db_xref="GeneID:158833"
                     /db_xref="HGNC:HGNC:23252"
                     /db_xref="MIM:300924"
     CDS             42..1028
                     /gene="AWAT1"
                     /gene_synonym="DGA2; DGAT2L3"
                     /EC_number="2.3.1.75"
                     /note="diacylglycerol O-acyltransferase 2-like 3;
                     long-chain-alcohol O-fatty-acyltransferase 1;
                     diacyl-glycerol acyltransferase 2; diacylglycerol
                     acyltransferase 2; diacylglycerol O-acyltransferase 2-like
                     protein 3"
                     /codon_start=1
                     /product="acyl-CoA wax alcohol acyltransferase 1"
                     /protein_id="NP_001013597.1"
                     /db_xref="CCDS:CCDS35321.1"
                     /db_xref="GeneID:158833"
                     /db_xref="HGNC:HGNC:23252"
                     /db_xref="MIM:300924"
                     /translation="MAHSKQPSHFQSLMLLQWPLSYLAIFWILQPLFVYLLFTSLWPLP
                     VLYFAWLFLDWKTPERGGRRSAWVRNWCVWTHIRDYFPITILKTKDLSPEHNYLMGVHP
                     HGLLTFGAFCNFCTEATGFSKTFPGITPHLATLSWFFKIPFVREYLMAKGVCSVSQPAI
                     NYLLSHGTGNLVGIVVGGVGEALQSVPNTTTLILQKRKGFVRTALQHGAHLVPTFTFGE
                     TEVYDQVLFHKDSRMYKFQSCFRRIFGFYCCVFYGQSFCQGSTGLLPYSRPIVTVVGEP
                     LPLPQIEKPSQEMVDKYHALYMDALHKLFDQHKTHYGCSETQKLFFL"
     misc_feature    75..137
                     /gene="AWAT1"
                     /gene_synonym="DGA2; DGAT2L3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q58HT5.1);
                     transmembrane region"
     misc_feature    141..200
                     /gene="AWAT1"
                     /gene_synonym="DGA2; DGAT2L3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q58HT5.1);
                     transmembrane region"
ORIGIN
        1 actgttctga gatctttgcc tccctcaggc tcccgagaat catggctcat tccaagcagc
       61 ctagtcactt ccagagtctg atgcttctgc agtggccttt gagctacctt gccatctttt
      121 ggatcttgca gccattgttc gtctacctgc tgtttacatc cttgtggccg ctaccagtgc
      181 tttactttgc ctggttgttc ctggactgga agaccccaga gcgaggtggc aggcgttcgg
      241 cctgggtaag gaactggtgt gtctggaccc acatcaggga ctatttcccc attacgatcc
      301 tgaagacaaa ggacctatca cctgagcaca actacctcat gggggttcac ccccatggcc
      361 tcctgacctt tggcgccttc tgcaacttct gcactgaggc cacaggcttc tcgaagacct
      421 tcccaggcat cactcctcac ttggccacgc tgtcctggtt cttcaagatc ccctttgtta
      481 gggagtacct catggccaaa ggtgtgtgct ctgtgagcca gccagccatc aactatctgc
      541 tgagccatgg cactggcaac ctcgtgggca ttgtagtggg aggtgtgggt gaggccctgc
      601 aaagtgtgcc caacaccacc accctcatcc tccagaagcg caaggggttc gtgcgcacag
      661 ccctccagca tggggctcat ctggtcccca ccttcacttt tggggaaact gaggtgtatg
      721 atcaggtgct gttccataag gatagcagga tgtacaagtt ccagagctgc ttccgccgta
      781 tctttggttt ctactgttgt gtcttctatg gacaaagctt ctgtcaaggc tccactgggc
      841 tcctgccata ctccaggcct attgtcactg tggttgggga gcctctgcca ctgccccaaa
      901 ttgaaaagcc aagccaggag atggtggaca aataccatgc actttatatg gatgctctgc
      961 acaaactgtt cgaccagcat aagacccact atggctgctc agagacccaa aagctgtttt
     1021 tcctgtgaat gaaggtactg catgcccagg agcacaggag tgcctgcctt gaagaagaga
     1081 ctcatctgcc actaaccaaa gacaggcagg agatgaggga ggttatatgt ggtaggggag
     1141 ggcatgagga attccttctt tgccttcttg ccacagggtc cttacaggaa ttctttctga
     1201 agagctgcac acagtcattc ctcaaaggag ggcatcctag tgcccctcat gctggggcct
     1261 gatgcctggt catcatttga gtcctctggg acacattagc agtcactgca tattccccca
     1321 gcccctgggc aactatctac tttctgtctc tgtggatttg ccaattctga acattttata
     1381 taaatggaat aatacaa
//
LOCUS       NM_001013615            1849 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens leucine rich adaptor protein 1 (LURAP1), mRNA.
ACCESSION   NM_001013615
VERSION     NM_001013615.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1849)
  AUTHORS   Chia S, Leung T and Tan I.
  TITLE     Cyclical phosphorylation of LRAP35a and CLASP2 by GSK3beta and
            CK1delta regulates EB1-dependent MT dynamics in cell migration
  JOURNAL   Cell Rep 36 (11), 109687 (2021)
   PUBMED   34525355
  REMARK    GeneRIF: Cyclical phosphorylation of LRAP35a and CLASP2 by GSK3beta
            and CK1delta regulates EB1-dependent MT dynamics in cell migration.
REFERENCE   2  (bases 1 to 1849)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1849)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1849)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1849)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human genetic
            disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   6  (bases 1 to 1849)
  AUTHORS   Jing Z, Yuan X, Zhang J, Huang X, Zhang Z, Liu J, Zhang M, Oyang J,
            Zhang Y, Zhang Z and Yang R.
  TITLE     Chromosome 1 open reading frame 190 promotes activation of NF-kappaB
            canonical pathway and resistance of dendritic cells to
            tumor-associated inhibition in vitro
  JOURNAL   J Immunol 185 (11), 6719-6727 (2010)
   PUBMED   21048106
  REMARK    GeneRIF: C1orf190 can activate NF-kappaB, drive production of
            cytokines, and promote the antigen-presenting function and priming
            ability of dendritic cells.
REFERENCE   7  (bases 1 to 1849)
  AUTHORS   Tan I, Yong J, Dong JM, Lim L and Leung T.
  TITLE     A tripartite complex containing MRCK modulates lamellar actomyosin
            retrograde flow
  JOURNAL   Cell 135 (1), 123-136 (2008)
   PUBMED   18854160
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK057892.1, SRR3476690.510082.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371980.4/ ENSP00000361048.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK057892.1, BX370151.2 and AI077554.1.
            On Nov 22, 2018 this sequence version replaced NM_001013615.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1849
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..1849
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
                     /note="leucine rich adaptor protein 1"
                     /db_xref="GeneID:541468"
                     /db_xref="HGNC:HGNC:32327"
                     /db_xref="MIM:616129"
     misc_feature    16..18
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
                     /note="upstream in-frame stop codon"
     CDS             94..813
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
                     /note="NF-kappa-B activator C1orf190; leucine repeat
                     adapter protein 35A; leucine repeat adaptor protein 35a"
                     /codon_start=1
                     /product="leucine rich adaptor protein 1"
                     /protein_id="NP_001013633.1"
                     /db_xref="CCDS:CCDS30703.1"
                     /db_xref="GeneID:541468"
                     /db_xref="HGNC:HGNC:32327"
                     /db_xref="MIM:616129"
                     /translation="MEGTVESQTPDLRDVEGKVGRKTPEGLLRGLRGECELGTSGALLL
                     PGASSTGHDLGDKIMALKMELAYLRAIDVKILQQLVTLNEGIEAVRWLLEERGTLTSHC
                     SSLTSSQYSLTGGSPGRSRRGSWDSLPDTSTTDRLDSVSIGSFLDTVAPSELDEQGPPG
                     APRSEMDWAKVIAGGERARTEVDVAATRLGSLRAVWKPPGERLQGGPPESPEDESAKLG
                     FEAHWFWEQCQDDVTFL"
     misc_feature    256..342
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LR2.1);
                     Region: LRR 1"
     misc_feature    370..435
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LR2.1);
                     Region: LRR 2"
     misc_feature    412..510
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LR2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    445..447
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D6I9; propagated from
                     UniProtKB/Swiss-Prot (Q96LR2.1); phosphorylation site"
     misc_feature    469..471
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D6I9; propagated from
                     UniProtKB/Swiss-Prot (Q96LR2.1); phosphorylation site"
     misc_feature    478..480
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:D4A8G3; propagated from
                     UniProtKB/Swiss-Prot (Q96LR2.1); phosphorylation site"
     misc_feature    691..750
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96LR2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    730..732
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q96LR2.1); phosphorylation site"
     polyA_site      835
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
                     /note="major polyA site"
     polyA_site      877
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
     polyA_site      924
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
     polyA_site      937
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
     regulatory      1830..1835
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
                     /note="hexamer: AATAGA"
     polyA_site      1849
                     /gene="LURAP1"
                     /gene_synonym="C1orf190; LRAP35a; LRP35A"
                     /note="major polyA site"
ORIGIN
        1 ggttttgctc cgctttagca gcggcgaagg gaggaccccc gggagccggt ccccggcgtc
       61 cggtcgccca gcccttttca ggcttgggcc cgcatggagg ggaccgtgga gtcccagacg
      121 cctgacctgc gggatgtgga gggtaaggtg ggcaggaaga cccctgaagg gctgctccgc
      181 gggctgcgag gcgagtgtga gctgggaacc tctggcgccc tgctgctccc aggggcgtct
      241 agcaccggcc acgacttggg ggacaagatc atggcgctga agatggagct ggcttacctg
      301 cgagccatcg atgtgaagat cctgcagcag ctggtgacct tgaatgaggg catcgaggca
      361 gtgcgctggc tgttggagga gcgggggacg ttgaccagtc attgcagcag cctcaccagc
      421 agtcaatata gcctgacagg cgggagccca ggccgctcaa ggcgaggcag ctgggacagc
      481 ctgccagaca ccagcaccac cgaccggctg gacagtgtct ctattggcag cttcctggac
      541 acagtggccc ccagcgagct ggatgaacag ggcccacctg gggctccacg ttccgagatg
      601 gactgggcaa aagttatagc tggtggagag agggccagga ctgaggtgga tgtggcagcc
      661 accaggctag ggagcttgag agctgtgtgg aagcccccag gggagaggct tcaaggtgga
      721 ccacctgagt caccagagga tgagagtgcc aagctgggct tcgaggccca ctggttctgg
      781 gagcagtgcc aggatgatgt gaccttcttg taacaactat tccacccttt tgtaatcctg
      841 tggctctttt atccattaga tgtggtctcc cccaaaattg attctccctc agtctgagac
      901 taggaagagg ctgcactgaa atcagttacc atggaaacct ggctcatcat ttctctagtc
      961 cctagggagt ctctgccttt atccctcaat tattgggtcc ctagagctag cttgctcttt
     1021 ctttctttct ttcttttttt gagacagggt cttatgctgt tacccaagat agagagcagt
     1081 ggcatgatca cagctcactg cagccttgac ctcctgggct caagcgatcc tcctatttca
     1141 gcctccccca tagttaggac cacaggcatg caccaccatg cccagctaat tgtttattta
     1201 tttatttttt ttttgtagag atagggtttc cctgtgttgc ccaggctggt ctcaaactcc
     1261 tgggctcaag ggatcctccc gcctcagcct cccaaagtgc tgggattatg cccagcccct
     1321 agagatactt ctatagagat attgactcta aaggattgac ctatggcttt tggtatttag
     1381 tatctctcac tactcccccc agctaagtaa ggatttaagg aatttaggac tccctggagt
     1441 taacagatga agagatgggg gcataattac ttcacccaaa gtctagaagc cttggcctct
     1501 ctcttggcca agatggagga ttgaggaggg acatggacct tcaggactaa ccctctatgg
     1561 attggccctc ccagaagcgt ttgggctggt agacccaccc cttcctacct gctgagtgat
     1621 gtcatttcct gccaggatgg gtagcccttt gtacgggtcc ttggatggta gtaggtcata
     1681 taggggcatc tgagcccctg ctgctaagtg agatcacatt atttatcgtc cataccatta
     1741 cttcttgtga acagtaacat gtcactcctc ctggcaggaa agtttctcat tgtcagatgt
     1801 ttgtgcttct tttcaggtct tactttttaa atagagtgtt ctcatttta
//
LOCUS       NM_001013619            4197 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens hydroxylysine kinase (HYKK), transcript variant 1,
            mRNA.
ACCESSION   NM_001013619
VERSION     NM_001013619.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4197)
  AUTHORS   Sun H, Pan Y, He B, Deng Q, Ying H, Chen J, Liu X and Wang S.
  TITLE     Different effects of the three polymorphisms on 15q25.1 onlung
            cancer risk: Evidence from published literatures
  JOURNAL   J Cancer Res Ther 12 (1), 12-19 (2016)
   PUBMED   27072204
  REMARK    GeneRIF: CHRNA3 rs1051730 (G > A) and AGPHD1 rs8034191 (A > G) were
            more susceptible to lung cancers than noncarriers.
REFERENCE   2  (bases 1 to 4197)
  AUTHORS   Zhang L, Jin TB, Gao Y, Wang HJ, Yang H, Feng T, Chen C, Kang LL and
            Chen C.
  TITLE     Meta-analysis of the association between the rs8034191 polymorphism
            in AGPHD1 and lung cancer risk
  JOURNAL   Asian Pac J Cancer Prev 16 (7), 2713-2717 (2015)
   PUBMED   25854352
  REMARK    GeneRIF: The association between AGPHD1 single nucleotide
            polymorphism rs8034191 and lung cancer risk was significant using
            multiple genetic models, suggesting that AGPHD1 single nucleotide
            polymorphism rs8034191 is a risk factor for lung cancer.
REFERENCE   3  (bases 1 to 4197)
  AUTHORS   Wang H and Liu ZD.
  TITLE     Genetic association between AGPHD1 variant and lung cancer risk
  JOURNAL   Cell Biochem Biophys 70 (3), 1963-1968 (2014)
   PUBMED   25074529
  REMARK    GeneRIF: The variant rs8034191 in the AGPHD1 gene may not modify the
            genetic risk of lung cancer in Asian populations.
REFERENCE   4  (bases 1 to 4197)
  AUTHORS   Castaldi PJ, Cho MH, San Jose Estepar R, McDonald ML, Laird N, Beaty
            TH, Washko G, Crapo JD and Silverman EK.
  CONSRTM   COPDGene Investigators
  TITLE     Genome-wide association identifies regulatory Loci associated with
            distinct local histogram emphysema patterns
  JOURNAL   Am J Respir Crit Care Med 190 (4), 399-409 (2014)
   PUBMED   25006744
REFERENCE   5  (bases 1 to 4197)
  AUTHORS   Wilk JB, Shrine NR, Loehr LR, Zhao JH, Manichaikul A, Lopez LM,
            Smith AV, Heckbert SR, Smolonska J, Tang W, Loth DW, Curjuric I, Hui
            J, Cho MH, Latourelle JC, Henry AP, Aldrich M, Bakke P, Beaty TH,
            Bentley AR, Borecki IB, Brusselle GG, Burkart KM, Chen TH, Couper D,
            Crapo JD, Davies G, Dupuis J, Franceschini N, Gulsvik A, Hancock DB,
            Harris TB, Hofman A, Imboden M, James AL, Khaw KT, Lahousse L,
            Launer LJ, Litonjua A, Liu Y, Lohman KK, Lomas DA, Lumley T,
            Marciante KD, McArdle WL, Meibohm B, Morrison AC, Musk AW, Myers RH,
            North KE, Postma DS, Psaty BM, Rich SS, Rivadeneira F, Rochat T,
            Rotter JI, Soler Artigas M, Starr JM, Uitterlinden AG, Wareham NJ,
            Wijmenga C, Zanen P, Province MA, Silverman EK, Deary IJ, Palmer LJ,
            Cassano PA, Gudnason V, Barr RG, Loos RJ, Strachan DP, London SJ,
            Boezen HM, Probst-Hensch N, Gharib SA, Hall IP, O'Connor GT, Tobin
            MD and Stricker BH.
  TITLE     Genome-wide association studies identify CHRNA5/3 and HTR4 in the
            development of airflow obstruction
  JOURNAL   Am J Respir Crit Care Med 186 (7), 622-632 (2012)
   PUBMED   22837378
REFERENCE   6  (bases 1 to 4197)
  AUTHORS   Pillai SG, Ge D, Zhu G, Kong X, Shianna KV, Need AC, Feng S, Hersh
            CP, Bakke P, Gulsvik A, Ruppert A, Lodrup Carlsen KC, Roses A,
            Anderson W, Rennard SI, Lomas DA, Silverman EK and Goldstein DB.
  CONSRTM   ICGN Investigators
  TITLE     A genome-wide association study in chronic obstructive pulmonary
            disease (COPD): identification of two major susceptibility loci
  JOURNAL   PLoS Genet 5 (3), e1000421 (2009)
   PUBMED   19300482
REFERENCE   7  (bases 1 to 4197)
  AUTHORS   Liu P, Vikis HG, Wang D, Lu Y, Wang Y, Schwartz AG, Pinney SM, Yang
            P, de Andrade M, Petersen GM, Wiest JS, Fain PR, Gazdar A, Gaba C,
            Rothschild H, Mandal D, Coons T, Lee J, Kupert E, Seminara D, Minna
            J, Bailey-Wilson JE, Wu X, Spitz MR, Eisen T, Houlston RS, Amos CI,
            Anderson MW and You M.
  TITLE     Familial aggregation of common sequence variants on 15q24-25.1 in
            lung cancer
  JOURNAL   J Natl Cancer Inst 100 (18), 1326-1330 (2008)
   PUBMED   18780872
REFERENCE   8  (bases 1 to 4197)
  AUTHORS   Amos CI, Wu X, Broderick P, Gorlov IP, Gu J, Eisen T, Dong Q, Zhang
            Q, Gu X, Vijayakrishnan J, Sullivan K, Matakidou A, Wang Y, Mills G,
            Doheny K, Tsai YY, Chen WV, Shete S, Spitz MR and Houlston RS.
  TITLE     Genome-wide association scan of tag SNPs identifies a susceptibility
            locus for lung cancer at 15q25.1
  JOURNAL   Nat Genet 40 (5), 616-622 (2008)
   PUBMED   18385676
REFERENCE   9  (bases 1 to 4197)
  AUTHORS   Hung RJ, McKay JD, Gaborieau V, Boffetta P, Hashibe M, Zaridze D,
            Mukeria A, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova
            E, Mates D, Bencko V, Foretova L, Janout V, Chen C, Goodman G, Field
            JK, Liloglou T, Xinarianos G, Cassidy A, McLaughlin J, Liu G, Narod
            S, Krokan HE, Skorpen F, Elvestad MB, Hveem K, Vatten L, Linseisen
            J, Clavel-Chapelon F, Vineis P, Bueno-de-Mesquita HB, Lund E,
            Martinez C, Bingham S, Rasmuson T, Hainaut P, Riboli E, Ahrens W,
            Benhamou S, Lagiou P, Trichopoulos D, Holcatova I, Merletti F,
            Kjaerheim K, Agudo A, Macfarlane G, Talamini R, Simonato L, Lowry R,
            Conway DI, Znaor A, Healy C, Zelenika D, Boland A, Delepine M,
            Foglio M, Lechner D, Matsuda F, Blanche H, Gut I, Heath S, Lathrop M
            and Brennan P.
  TITLE     A susceptibility locus for lung cancer maps to nicotinic
            acetylcholine receptor subunit genes on 15q25
  JOURNAL   Nature 452 (7187), 633-637 (2008)
   PUBMED   18385738
REFERENCE   10  (bases 1 to 4197)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.154262.1,
            SRR1660805.162945.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000388988.9/ ENSP00000373640.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM045979.1, DN831396.1, AC027228.16 and AW327432.1.
            On Nov 23, 2018 this sequence version replaced NM_001013619.3.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by orthologous mouse and Xenopus data.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4197
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.1"
     gene            1..4197
                     /gene="HYKK"
                     /gene_synonym="AGPHD1"
                     /note="hydroxylysine kinase"
                     /db_xref="GeneID:123688"
                     /db_xref="HGNC:HGNC:34403"
                     /db_xref="MIM:614681"
     misc_feature    17..19
                     /gene="HYKK"
                     /gene_synonym="AGPHD1"
                     /note="upstream in-frame stop codon"
     CDS             101..1222
                     /gene="HYKK"
                     /gene_synonym="AGPHD1"
                     /EC_number="2.7.1.81"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aminoglycoside phosphotransferase domain-containing protein
                     1; 5-hydroxylysine kinase; 5-hydroxy-L-lysine kinase"
                     /codon_start=1
                     /product="hydroxylysine kinase isoform 1"
                     /protein_id="NP_001013641.2"
                     /db_xref="CCDS:CCDS42063.1"
                     /db_xref="GeneID:123688"
                     /db_xref="HGNC:HGNC:34403"
                     /db_xref="MIM:614681"
                     /translation="MSSGNYQQSEALSKPTFSEEQASALVESVFGLKVSKVRPLPSYDD
                     QNFHVYVSKTKDGPTEYVLKISNTKASKNPDLIEVQNHIIMFLKAAGFPTASVCHTKGD
                     NTASLVSVDSGSEIKSYLVRLLTYLPGRPIAELPVSPQLLYEIGKLAAKLDKTLQRFHH
                     PKLSSLHRENFIWNLKNVPLLEKYLYALGQNRNREIVEHVIHLFKEEVMTKLSHFRECI
                     NHGDLNDHNILIESSKSASGNAEYQVSGILDFGDMSYGYYVFEVAITIMYMMIESKSPI
                     QVGGHVLAGFESITPLTAVEKGALFLLVCSRFCQSLVMAAYSCQLYPENKDYLMVTAKT
                     GWKHLQQMFDMGQKAVEEIWFETAKSYESGISM"
     regulatory      4178..4183
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HYKK"
                     /gene_synonym="AGPHD1"
                     /note="hexamer: ATTACA"
     polyA_site      4197
                     /gene="HYKK"
                     /gene_synonym="AGPHD1"
                     /note="major polyA site"
ORIGIN
        1 cccctgctct acctcctagc gccggtgcgc ggccgaggcc gcactacctg tctgcgggaa
       61 agcgggatcc accccaggac gtcgggtcgc tgccgacata atgtcaagtg gaaactatca
      121 gcagtcagag gctcttagca aacccacttt cagtgaggaa caagcctctg cgttagtgga
      181 gtcagtgttt gggttgaaag tttccaaggt ccggccactt cctagctatg atgaccaaaa
      241 ctttcatgtc tacgtttcaa aaaccaaaga tggcccaact gaatatgtcc tcaaaataag
      301 caacaccaag gctagcaaaa atccagacct gattgaagtg cagaatcaca tcatcatgtt
      361 tctgaaagcc gctggatttc caacagcctc tgtgtgtcac actaaaggag acaacacagc
      421 ttctctcgtg tctgtagata gtggctctga aatcaaaagc tacttggtga ggctgctgac
      481 ttacctccca ggaagaccca tcgctgagct tcccgtcagc ccccagctat tgtatgaaat
      541 tggaaaacta gctgccaaat tggataagac actgcagaga ttccatcacc caaagttaag
      601 tagtcttcat cgggagaact tcatctggaa tctgaaaaat gttcctcttc tggagaaata
      661 cctgtatgcc ctgggccaga atcgaaaccg agagattgtt gagcatgtca ttcatctgtt
      721 caaggaggaa gtaatgacca aattaagtca ttttcgagaa tgtatcaatc acggagatct
      781 taatgaccat aatattttaa tagagtccag caagtcagcc tctggaaatg ctgaatatca
      841 agtgtctggg attttagact ttggtgacat gagctatggc tactatgtgt ttgaagtggc
      901 aattaccatc atgtacatga tgattgagag caagagtcct atacaagtag gaggccatgt
      961 ccttgcaggg tttgaaagca tcaccccact gacagctgta gagaagggtg ctttgttttt
     1021 acttgtatgc agtcgttttt gtcagtcact tgtcatggct gcatactctt gccagctata
     1081 cccagagaac aaagactatc tcatggttac tgcaaaaacc gggtggaaac acttacagca
     1141 aatgtttgac atgggtcaga aagctgtaga agaaatctgg tttgaaactg ccaaatccta
     1201 tgaatctggg atctccatgt gactgagatc tccatgtgac tcaaagttca ctttaacttg
     1261 ggtaattaaa ataggaccca gtcaaatttt aggaaggatt ttcctgcata gttaaaaatc
     1321 aactgatgga atggatcaat tctgaatatg acagagcaca tgaaatccct aaggtcttca
     1381 agcaatctcg tgacaatttt ttaaaattca caaaagtacc acaagcaagc atatttttct
     1441 gtgagtctta cttgccatat ctataaaaca catataatga taccattttg aagcagataa
     1501 tctcacaaga tctattcctg ccctgagatt aatgactatt ttaattttaa aaataatata
     1561 tacatataga tatattgaca tattttaaat atctggacat aacatactga cctagataac
     1621 atactaccag ttctatgaaa cctcctctga tctctccttt ctctagaatc ccagtgcatt
     1681 gtgtcttttt catggcccat cactttgtat aatggatcgt ggttgtgcag tcatcttgcc
     1741 tgagagctac tgagggcgga gaccatgtaa aacttatttt tgtctcctca gcccttcttt
     1801 tttttttttt tttttttttg agacggagtc tcgctctgtc gcccaggctg gagtgcagtg
     1861 gcacgatctc ggctcattgc aagctccgct tctcgagttc acgccattct cctgcctcag
     1921 cctcctgagt agctgggact acaggcgccc accaccacgc ccggctaatt ttttttgtat
     1981 ttttagtaga gacagggttt caccgtgtta gccagaatgg tctcgatctc ctgaccttgt
     2041 gatccacccg cctcgatctc ccaaagtgct gggattacag gcatgagtca ccgtgcccgg
     2101 cctcctcatc ccttcttatc acacctgcta ttatagtgcc tttcctacag agaggtcttt
     2161 aaaaatattt gaaaataaat gcgtgctaga agaagggatg gagaaggcac acactaagat
     2221 gctttaggag aaagcattga cagcattctt ggagaaaaaa ttttaacttg tctgagaggg
     2281 tggttgaaac tggaactcca gagatagatg ctggaagacc ctgggaactg caaggaagca
     2341 aataatgaca tccaggcaag gccactaacc cctgagctac ttaaatataa tggttccttt
     2401 cagactgata ccaggaacct ccttaagcat ataagcatat attttttaat tctctataat
     2461 ctgtttcttt ttggatgact atgaagtaga ttgggtagac tgaagctcac tgtattcttg
     2521 gctgacggta tcccactgtg tttccttcac tggtttctcg tcatgtctcc tttagtatga
     2581 tttagtaaat ggctgtttac tattcttatg atttcaacta ttcattgtct acagatgact
     2641 caagtctaga accctggcca ttcaaatact caatagttat ctttctatat atatgaacag
     2701 gcattgatcc tatctccatc tttctgtcta cctacctagt cttcccaaac tagatatttc
     2761 tctaaattgt cttatatggt tcatttttca cttctttgtc cctcaatttc atttcatttc
     2821 tttttctttt cttttctttt cttttttttt ttttttggtg gtggggcggc agggacaggg
     2881 tttcactgca gcctcaacct cctaggctca ggtgatcctc ccacctcagc ctccctagta
     2941 gctgggactt caggcatgtg ccaccatgtc tggctaattc tttaattttt tgtagagatt
     3001 ggggtaatac ctatctcata gaattaatag agttcattgt gaagatttca taagagaaca
     3061 gtgccaagtg cttaacacag tgtgtggcac atagttagga ctcagtaact atttactcaa
     3121 taaatgaacc atattccagg ttacccaaac tcaaaatatt ggagtaattt tttgcttgcc
     3181 tctcttatat tcagtgagcc ctactggttt ttagaattgt agaattttag gaatctctgt
     3241 ctttactgga ttttttgttt gttttgggct tttttgtttg tttgtttgag atagggtctc
     3301 actccgtcac cgacgctgga gtgcagtggt gtgatcacag ctcactgcaa cctctacctc
     3361 ctgggctcaa gcaatcctcc cacctcagcc tcctgagtag ctgggactac aggcatgtgc
     3421 caccatgccc aactaattta ttttattttg tagagatagg gtctcactat gttgcccagg
     3481 ctggtctcaa acccctggac tcaagcaatc ctcctgcctt ggcctcccta aatgctagga
     3541 ttataggcgt gagctatcat acccagcctg tgttgttttt taacaatata taataaaagc
     3601 caacatttat tcagcactga agtattttat acacattagc tcacttaatt tttacaacaa
     3661 acctgtgtgg gaagtactgt tataattaat cgtcattttc agataagaaa atagcagctg
     3721 aaaaagtaaa aataatttcc tcaaagacag ccagggctta aatcaggcct ttctgatgta
     3781 gaccatgctc ttcactacca cagagttcca tgctactttc tctccctctc cctcctctcc
     3841 tgtccctgct acacacacac acacacacac acacacacac acatgcacac tcactcacac
     3901 acactaggag gaacaaatga gatcattcac atgaaagcac ttatgtttct gaaatttaag
     3961 ggactgtggt ttttatctag gttgacctct caagctaaaa actgggaacc agaataatgg
     4021 actgaaactt gggtttcact tccagaccag tgttgatcct ctgaattgat gaaactgtat
     4081 agatttccct cttgattgcc cctgctaaca tggatttcct ttcactcaat tcctaatgca
     4141 aatattgctg accactgttt agatgtttac atgctgcatt acattgatat tttacta
//
LOCUS       NM_001013620           10050 bp    mRNA    linear   PRI 26-AUG-2023
DEFINITION  Homo sapiens ALG10 alpha-1,2-glucosyltransferase B (ALG10B),
            transcript variant 1, mRNA.
ACCESSION   NM_001013620
VERSION     NM_001013620.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10050)
  AUTHORS   Zhou W, Ye D, Tester DJ, Bains S, Giudicessi JR, Haglund-Turnquist
            CM, Orland KM, January CT, Eckhardt LL, Maginot KR and Ackerman MJ.
  TITLE     Elucidation of ALG10B as a Novel Long-QT Syndrome-Susceptibility
            Gene
  JOURNAL   Circ Genom Precis Med 16 (2), e003726 (2023)
   PUBMED   37071726
  REMARK    GeneRIF: Elucidation of ALG10B as a Novel Long-QT
            Syndrome-Susceptibility Gene.
REFERENCE   2  (bases 1 to 10050)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 10050)
  AUTHORS   Probst FJ, Corrigan RR, Del Gaudio D, Salinger AP, Lorenzo I, Gao
            SS, Chiu I, Xia A, Oghalai JS and Justice MJ.
  TITLE     A point mutation in the gene for asparagine-linked glycosylation 10B
            (Alg10b) causes nonsyndromic hearing impairment in mice (Mus
            musculus)
  JOURNAL   PLoS One 8 (11), e80408 (2013)
   PUBMED   24303013
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 10050)
  AUTHORS   Hayashi K, Fujino N, Ino H, Uchiyama K, Sakata K, Konno T, Masuta E,
            Funada A, Sakamoto Y, Tsubokawa T, Hodatsu A, Yasuda T, Kanaya H,
            Kim MY, Kupershmidt S, Higashida H and Yamagishi M.
  TITLE     A KCR1 variant implicated in susceptibility to the long QT syndrome
  JOURNAL   J Mol Cell Cardiol 50 (1), 50-57 (2011)
   PUBMED   20950623
  REMARK    GeneRIF: Findings suggest that KCR1 genetic variations that diminish
            the ability of KCR1 to protect KCNH2 from inhibition by commonly
            used therapeutic agents constitute a risk factor for the aLQTS.
REFERENCE   5  (bases 1 to 10050)
  AUTHORS   Daly AK, Donaldson PT, Bhatnagar P, Shen Y, Pe'er I, Floratos A,
            Daly MJ, Goldstein DB, John S, Nelson MR, Graham J, Park BK, Dillon
            JF, Bernal W, Cordell HJ, Pirmohamed M, Aithal GP and Day CP.
  CONSRTM   DILIGEN Study; International SAE Consortium
  TITLE     HLA-B*5701 genotype is a major determinant of drug-induced liver
            injury due to flucloxacillin
  JOURNAL   Nat Genet 41 (7), 816-819 (2009)
   PUBMED   19483685
REFERENCE   6  (bases 1 to 10050)
  AUTHORS   Nakajima T, Hayashi K, Viswanathan PC, Kim MY, Anghelescu M,
            Barksdale KA, Shuai W, Balser JR and Kupershmidt S.
  TITLE     HERG is protected from pharmacological block by
            alpha-1,2-glucosyltransferase function
  JOURNAL   J Biol Chem 282 (8), 5506-5513 (2007)
   PUBMED   17189275
REFERENCE   7  (bases 1 to 10050)
  AUTHORS   Petersen CI, McFarland TR, Stepanovic SZ, Yang P, Reiner DJ, Hayashi
            K, George AL, Roden DM, Thomas JH and Balser JR.
  TITLE     In vivo identification of genes that modify ether-a-go-go-related
            gene activity in Caenorhabditis elegans may also affect human
            cardiac arrhythmia
  JOURNAL   Proc Natl Acad Sci U S A 101 (32), 11773-11778 (2004)
   PUBMED   15280551
REFERENCE   8  (bases 1 to 10050)
  AUTHORS   Kupershmidt S, Yang IC, Hayashi K, Wei J, Chanthaphaychith S,
            Petersen CI, Johns DC, George AL Jr, Roden DM and Balser JR.
  TITLE     The IKr drug response is modulated by KCR1 in transfected cardiac
            and noncardiac cell lines
  JOURNAL   FASEB J 17 (15), 2263-2265 (2003)
   PUBMED   14525949
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.398127.1,
            SRR1163657.499250.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000308742.9/ ENSP00000310120.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC117372.2.
            On Nov 23, 2018 this sequence version replaced NM_001013620.3.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..10050
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q12"
     gene            1..10050
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="ALG10 alpha-1,2-glucosyltransferase B"
                     /db_xref="GeneID:144245"
                     /db_xref="HGNC:HGNC:31088"
                     /db_xref="MIM:603313"
     misc_feature    16..18
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="upstream in-frame stop codon"
     CDS             121..1542
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /EC_number="2.4.1.256"
                     /note="isoform 1 is encoded by transcript variant 1;
                     modifier of the HERG potassium channel; putative
                     alpha-1,2-glucosyltransferase ALG10-B; asparagine-linked
                     glycosylation 10 homolog B (yeast,
                     alpha-1,2-glucosyltransferase); potassium channel regulator
                     1; alpha-2-glucosyltransferase ALG10-B; asparagine-linked
                     glycosylation protein 10 homolog B;
                     alpha-1,2-glucosyltransferase ALG10-A; putative
                     Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol
                     alpha-1,2-glucosyltransferase; asparagine-linked
                     glycosylation 10, alpha-1,2-glucosyltransferase homolog B;
                     dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2-
                     glucosyltransferase; ALG10B, alpha-1,2-glucosyltransferase"
                     /codon_start=1
                     /product="putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol
                     alpha-1,2-glucosyltransferase isoform 1"
                     /protein_id="NP_001013642.2"
                     /db_xref="CCDS:CCDS31772.1"
                     /db_xref="GeneID:144245"
                     /db_xref="HGNC:HGNC:31088"
                     /db_xref="MIM:603313"
                     /translation="MAQLEGYCFSAALSCTFLVSCLLFSAFSRALREPYMDEIFHLPQA
                     QRYCEGHFSLSQWDPMITTLPGLYLVSVGVVKPAIWIFAWSEHVVCSIGMLRFVNLLFS
                     VGNFYLLYLLFHKVQPRNKAASSIQRVLSTLTLAVFPTLYFFNFLYYTEAGSMFFTLFA
                     YLMCLYGNHKTSAFLGFCGFMFRQTNIIWAVFCAGNVIAQKLTEAWKTELQKKEDRLPP
                     IKGPFAEFRKILQFLLAYSMSFKNLSMLFCLTWPYILLGFLFCAFVVVNGGIVIGDRSS
                     HEACLHFPQLFYFFSFTLFFSFPHLLSPSKIKTFLSLVWKHGILFLVVTLVSVFLVWKF
                     TYAHKYLLADNRHYTFYVWKRVFQRYAILKYLLVPAYIFAGWSIADSLKSKPIFWNLMF
                     FICLFIVIVPQKLLEFRYFILPYVIYRLNITLPPTSRLVCELSCYAIVNFITFYIFLNK
                     TFQWPNSQDIQRFMW"
     misc_feature    139..201
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I7T1.2);
                     transmembrane region"
     misc_feature    313..375
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I7T1.2);
                     transmembrane region"
     misc_feature    412..474
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I7T1.2);
                     transmembrane region"
     misc_feature    499..561
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I7T1.2);
                     transmembrane region"
     misc_feature    571..633
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I7T1.2);
                     transmembrane region"
     misc_feature    646..708
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I7T1.2);
                     transmembrane region"
     misc_feature    889..951
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I7T1.2);
                     transmembrane region"
     misc_feature    970..1032
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I7T1.2);
                     transmembrane region"
     misc_feature    1072..1134
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I7T1.2);
                     transmembrane region"
     misc_feature    1216..1278
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I7T1.2);
                     transmembrane region"
     misc_feature    1297..1359
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I7T1.2);
                     transmembrane region"
     misc_feature    1429..1491
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5I7T1.2);
                     transmembrane region"
     regulatory      5659..5664
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="hexamer: AATAAA"
     polyA_site      5681
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="major polyA site"
     regulatory      10029..10034
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="hexamer: AATAAA"
     polyA_site      10050
                     /gene="ALG10B"
                     /gene_synonym="ALG10; KCR1"
                     /note="major polyA site"
ORIGIN
        1 gtggccccgt ctggctagtc ctgtctagcg cgcccatttc gagcccaagt ttccagctcg
       61 ggtttccggg ctcagaattt tccaggagtg ggttcttggg cagtggctgt gggagcagga
      121 atggcgcagc tagagggtta ctgtttctcg gccgccttga gctgtacctt tttagtgtcc
      181 tgcctcctct tctccgcctt cagccgggcg ctgcgagagc cctacatgga cgagatcttc
      241 cacctgcctc aggcgcagcg ctactgtgag ggccatttct ccctttccca gtgggatccc
      301 atgattacta cattacctgg cttgtacctg gtgtcagttg gagtggtcaa acctgccatt
      361 tggatctttg catggtctga acatgttgtc tgctccattg ggatgctcag atttgttaat
      421 cttctcttca gtgttggcaa cttctattta ctatatttgc ttttccacaa ggtacaaccc
      481 agaaacaagg ctgcctcaag tatccagaga gtcttgtcaa cattaacact agcagtattt
      541 ccaacacttt atttttttaa cttcctttat tatacagaag caggatctat gttttttact
      601 ctttttgcat atttgatgtg tctttatgga aatcataaaa cttcagcctt ccttggattt
      661 tgtggcttca tgtttcggca aacaaatatc atctgggctg tcttctgtgc agggaatgtc
      721 attgcacaaa agttaactga ggcttggaaa actgagctac aaaagaagga agacagactt
      781 ccacctatta aaggaccatt tgcagaattc agaaaaattc ttcagtttct tttggcttat
      841 tccatgtcct ttaaaaactt gagtatgctt ttctgtttga cttggcccta catccttctg
      901 ggatttctgt tttgtgcttt tgtagtagtt aatggtggaa ttgttattgg cgatcggagt
      961 agtcatgaag cctgtcttca ttttcctcaa ctattctact ttttttcatt tactctcttt
     1021 ttttcttttc ctcatctcct gtctcctagc aaaattaaga cttttctttc cttagtttgg
     1081 aaacatggaa ttctgttttt ggtggttacc ttagtctctg tgtttttagt ttggaaattc
     1141 acttatgctc ataaatactt gctagcagac aatagacatt atactttcta tgtgtggaaa
     1201 agagtttttc aaagatatgc aattctgaaa tatttgttag ttccagccta tatatttgct
     1261 ggttggagta tagctgactc attgaaatca aagccaattt tttggaattt aatgtttttc
     1321 atatgcttgt tcattgttat agttcctcag aaactgctgg aatttcgtta cttcatttta
     1381 ccttatgtca tttataggct taacataact ctgcctccca catccagact tgtttgtgaa
     1441 ctgagttgct atgcaattgt taatttcata actttttaca tctttctgaa caagactttt
     1501 cagtggccaa atagtcagga cattcaaagg tttatgtggt aatatcagtg atattttgaa
     1561 ctgtaaaaat ggacttaata attagaccat ttctacaaag aacaactgaa taggtggaaa
     1621 acatggaatt tcttttaggt gcagtggtgg tcctcaaatt acattagttt ttttaatata
     1681 tattttaaac atatgtaaga aattaagtgg caaagaactg ggaaagctta agacctgctt
     1741 caaaagcctg aataatggga aaataaaatt gttttcagat atctcatatc gctctcgtaa
     1801 tgttggcccc tcacaaagct tgggaatgtt ttgtatgtat aagtttatta aaactgggta
     1861 tgcttcatat tactagaact aatttattct cttcagagag aactattagg ttagtgcaaa
     1921 agtaattgtg gtttttgcca ttgaaagtaa tggcaaaacc acaattactt ttgtaccaac
     1981 ctaataacaa tgtgttagca aatatttaca aatggtcagg tgatattctt gactgaaaag
     2041 ttccttaaca tttcagtaaa tataatttta attctaagtc aaaatagaaa tgcatagata
     2101 gtaaatgata aagtagagac tcatatatgt ctgtctaggc atcaaattgt tggttattgt
     2161 ttacaatcca gaaatgatga agctctttca ctaattccta atatgaaatg tatgatggcc
     2221 aaagacaaat tgtgttgatt ataatccttt aaaaggggga tttcctttat gaaatacata
     2281 ttgtattagc ttcccagggc tgccataaca aatgaccaca aacttgggtg cttacaacaa
     2341 ttttcctcac agtctggagg ccagaagtct aaaatcaaag tgtcagcaga gttggttcct
     2401 tctggaggct ctaaggaaga atccattcta tgtctgtttc ctaatatctt gtggctgtct
     2461 gcaattcttg gagttctttg gcttatgggc atatcttgtc taagtattgc agacagcaat
     2521 cttcactcca gtctctgcct ctgcgttcac acggcctttc cctctgtctt ttcattacct
     2581 tttaaggaca gtgtctttga atgtagggcc caccctgatc tagggtgatt gtgtctggag
     2641 acccttaatt atgtttacaa agacccatgt tccaagtaag tttgtattca catgttctga
     2701 gtagacattg tctcttcatg ggatactttt cagtccatga cagttactaa aggacatttt
     2761 aggataatcc tcatatgatt gttaggagac tacctttaaa aattttttat tatatatcaa
     2821 attatagttg tatatactta tgaggtacga agtggcatta tgatttttga atataatgtg
     2881 ggatgattaa ataaagctaa tctatccatc acctcaaata tttgacatat tttgtgatga
     2941 aaacatttga aatgtactct caacagtatt gaaatgtaca tacagtgctt aattattagc
     3001 tgtattcacc atgttgtgta atagatctaa aaaaagtcaa acatattcct tctatctaat
     3061 tgaggctttg tatcttttga ttgtcatctc cctattccca catccccggc ctctagcaac
     3121 catcattctt ctctctactt ctgtgagttt aattgtttta gattacacaa ataagtgaga
     3181 tcatgtggta tttgtctttc tgtgcttggc ttatttcact taccataatg tcctccacga
     3241 tcatccatat tgttgcaaat gacacaattt cttccttttt aaaggctgaa tagtattttt
     3301 ttgtatatat atgccacatt ttctttatcc attcatccat ggatggacac ttaggttgat
     3361 cgaatcactt ggttattgtg acttgtctgc aatgaacata gagtgcagac ttctctttga
     3421 catacggatt tcaaatcttc tggataaata gccagaagtg ggattgttgg atcaggagat
     3481 aatatcttag ctgatacctt ttaaataact ctcagtatct ttactgagag gttaaaaaat
     3541 aagtgacttc ttaggtaata taaagctaaa ggtgactagt gtttgattcc attatctatt
     3601 aaaaaaagtc agaattgaaa gaaagttgag aaatcctttg gtctgacttt gtagattagg
     3661 gaacaactgc tggggtagga ttattttgtg ttactttttg aattttgtgt ttattatttt
     3721 gagtgtattt tttgggttgt cattccatta caggaaagta ttatttgggc atgttaactt
     3781 tgacatgtaa acttagaatt gtgaatagaa ctcatctttt aacataattt tatgtttcta
     3841 aactttaaaa gtagctataa gtgaacaaat tactttcccc tcaatgtcaa attttgcttc
     3901 tctgagtttt aagtgatgag tctacattta caaatataaa attgtgtgca ggtgaaaatt
     3961 acaagtataa tttgagtaat aaatgcaggc cattttttgg ttgtactcta gtactcagaa
     4021 aatagatcgg cattagttat aacagtgatt gtagaaaaac gtgttttacc cagacttctt
     4081 aaaaattaga tgagagagga cactcaaaga aattatactt ttgtcattaa tttactatag
     4141 tggagaacta aatctgggaa gtcaaaattg aaaaaagaat gtgtaattta gggaaagtaa
     4201 ctttttgtct gataatatta atgcaaggat tttgtattta ggaatacttc tgagaggaga
     4261 agcttccact ctgatctagt ctggcaaaat tgaggaaaat attctaccct gtaattaaag
     4321 aagactgctc tttggaggga tcactgttct atatcttttt ttgtttgttt ttgtctttga
     4381 ggagaagtct cgctcttgtc ccccaggctg gaatgcaatg gcgcgatctt ggctcactga
     4441 aacctccacc tcctgggttc aagcagttct cctgcctcag cctcccgagt agctgagatt
     4501 ataggcgccc accaccaagc ctggctaatt ttttctattt ttagtagagc cggggtttca
     4561 ccgtgttagc caggctggtc tcgaactcct gacctcaggt aatccacctg cctcgcctcc
     4621 caaagtgctg ggattacagg cgtgagccac tgtgcccagc tcttctagtt catttttaag
     4681 tgttgagtcc ctgctgttta agagatgttt tggtgaaaat ctacattcag agagaaacag
     4741 gttaatcttc cacatttttt ataaaataca taaaatatag tacttggcat tttaagaaaa
     4801 gaatgccatg tattaaaagg tgctattttc aactatttat tattttaaaa caggaatgct
     4861 tatcaatact ttcgaattta agataaatgt cttcgttaaa ttttctaggc agttcaaaga
     4921 tggccatttg ctggtgaatt ttccaaaata gataacagat aaaatgatta tgtaagaact
     4981 tggcacaaca gatcattttg cctttagtcg ttcaagaaat gatactaaac tcaaagtcat
     5041 tcacttgaaa caactgagaa gaccattctt aggtgtttag atccttgctt ttagaaacat
     5101 tcttagttat atttgtgttt tcaaaagtta ttgagtagat agatattttt tcatgaattt
     5161 ttaaacatta gacttagctg aattgattaa aattaggtga ttatgaaaaa aatattgccc
     5221 tgctcgaggg catctggagc cctacagtta ccattactaa agtctgtgag tatgtctatt
     5281 ttgaaaagtg tcataaaaat atctagtcca taaatcatta taggttcagt aatacatcat
     5341 tttgaactga ttctatcttc tgtgaaattc tagagatatg ttatctttag gtagcatgag
     5401 taagattcag gtatgctgtg aattttgtta acgtttatgt tttccattaa tggatagtca
     5461 ggaatctttt gaactgcgtc tatgtattta aatgatttgg aaagatagca tctctcagtt
     5521 taaacttagc atctcatttt ggcaagataa attattttag ctgtctggcc ttttctttgt
     5581 cttcttagag ttatttctga aatgtgcata gccagtcata aaataacttg tgtaaatagc
     5641 ctaatgtaat ttatttctaa taaatacgta gcttaatgaa atgtatttct agtttgaact
     5701 taattgccac ttggcttgat attattttcc ttagaattgt tggaagagag gagagaggaa
     5761 gggatctacc atttttattt ataccaccta aatagtggac tgttattttg gactcacttt
     5821 taaataaaat atttattcac atgaagaaat aaattttgtg tttattaggt tagcaagcgt
     5881 ttattatctt tgaagtaatt ggaatttcat taaaaagtga agcaagtaag aattgtgata
     5941 taaatttgaa aatttttaaa tggaaattga aatatgactt aggaactgtg ggcttgtaga
     6001 aaaaaacatt taacatggga gttaagattt ttatatttgg ttgtggctct gggatcaata
     6061 aggcaagtgg tttagtcttt agtcctcatt tcaaatgaga atagtatttg tcctaactct
     6121 agtcagtgtc tgattggtat gtgtataacc ttattttaaa aaggattcat tcctgccata
     6181 tactcataat atttataagt atgtcatatg ataaatattg agtaaatata tactgaatga
     6241 agtttttagt atagagtgaa gtgaatagaa aaaacatcct acataaccgt ggctaatttt
     6301 aggaagtaaa tcatgtttca taataagagt catcctaaac atttttctgt gtaattttct
     6361 gacccagtgt taacaatttt tatttgcctt agtgcaagct tgttcaaccc acaggccaca
     6421 tgcagcccag gatggctttg aatgcggccc caacacaaat tttgtaagct ttcttaaaac
     6481 atgatgagat attttgtgat tttattttat tttattttat ttattatttt attttatttt
     6541 attttatttt ttagctcatc agctatcatt agtgttcgtg tattttatgt gtggcccaag
     6601 atggttcttc cagtgtggcc cagggaagcc aaaagattgg agacccctgc tagcatttaa
     6661 tgcttataca tgtatttact tgtaaacatg ttgtttcttt gataggatat gatttcaaca
     6721 taattactgt ttatttaaaa taagaaaaac aaataacttt caaccattaa aaggttataa
     6781 cactttaaag gaaagtttct tattaaagaa actttatacc ctattaaggg tataatttca
     6841 aaataattgc tttttattta aaataagaaa atattcttat ttctatttaa aataagaaaa
     6901 atcagtaacc ttcaacgaat aacaggttaa agaatttaaa ggtaaaagac atttcaacta
     6961 attacaaata ctttgttttt tttagttggg ctacatttta ccactctagg aatagctgtt
     7021 aattattttt tatatagggc atttttatgt atttaatgtt gacaactgac gtttccaata
     7081 tacaaaaact tgtgtaactg agaaaattat aataaaaata gagattgagg acatattttt
     7141 aacatatatc catgagtcaa cactaatatt taatatttga gatttgaaaa attatttcta
     7201 gggtaagaaa ttctgtcaca atataatatc tctatattgt gcttttttaa gagataaatt
     7261 tttgatgaat ttaatgttaa ttaaatttta tctcagccta tcaccatcag accaaaagac
     7321 aatacagtat ttttctaaca aggaaaagaa aatacatata tatatattta tatatacaaa
     7381 tatatacgta tttatatata caaatttgta tatatgtaat gtatgtgtgt gtgtatacat
     7441 ataatttctc cttttttttt tttgtaagaa ttgagacagg gtgtcactat gttgtgtggg
     7501 ctggtctcaa aacacctgcc tcaagtgatc ctcccacctt ggcctcccaa agtgctagga
     7561 tttacaatga gccactgtgc cagcttccaa caagaaaaat attaaatgta ttggtttttc
     7621 acagtgaaac ttaattcagt ttagttgaac catatatgtg tgtgtatggc atatataaga
     7681 tgaaaaaagg agaaaaagta acaataataa tgatggttgc catcattcat tgaacaccta
     7741 taatgtttta ggcattatac tagctgattt acaaatattg tctcatttga tgctacattt
     7801 atatttctat gaggcagatg ttgatttctc tttgactgct gaagaaactg aaggtcggtc
     7861 aggtcaggtg atttgcccaa agtccacact gtcactaaat gaacatagat tggtatgact
     7921 cccaagcctg tgagtttttg accgtcatat tctgcctcac tatgaaaagt tttttttcaa
     7981 ttttttttaa atcaaaagaa gtagtatatg gagagagagg tgaaaatcca tgtttgctct
     8041 ctgcagtttc caaaccattc atgacgtgtt atttttgtac tggatatagt cattttttaa
     8101 aatgctacaa actgttcaaa agagcatgaa caacatgata actccttata attttgttgt
     8161 aagataaatg actaaaatta tgtgggatat ttaatttgga taagtggaaa ttctatcact
     8221 tgataagctc tcttgaagaa taattatttg aaagattgga cttaattctg tattgcctga
     8281 agtgtaaatc agaggtcaac aattagattg caaatcatga aaagcataac ttctaattgt
     8341 ttagtctttt tagggaaaca agcccagaaa aaaagtaaga ttctcattca ttggagataa
     8401 gatttctatt tatcaaagat actacacaag agttagatag caagtagttc aaatgtcttt
     8461 taaaggtatc tgacatcttt aaagctctgt aatttttaaa ttctaaattt tgttacagct
     8521 aatttttaaa aattaattgc taagtcatgg tcaagtattt ctgatgactt acatgctgtc
     8581 tttggtatat tttaagtttc taaaccaaaa ctactatttg actctattac accctgtttt
     8641 agaaaaacat ttgagttata caacttacta aaatgtattt tagcggtgat gttttggagc
     8701 actggtaata tagtgtttaa cttattttct attttttatc cctctatatt cgtgaaatta
     8761 cttctatttg aaaagttttc cgccagtgat aaaaaaaggc tgagcactat ctgtaaaaat
     8821 ttttaaggtg tccactaggt ggagatattg tgctacattt ccaagtgttg tagttaaact
     8881 tttattagtc tgaattaaac tcttttatag tgttttattg ttttaaacca caaagattta
     8941 taatcattta tatctattta tctaatgtta ttcaaatgtt ttctgcgttg tatgaagcta
     9001 agataaatgt aaaaaaaaca aacaaaaaaa acctcacttt gtgttttgta atcattagac
     9061 gatttaacct aatatatctt cccatatgat atgatctttg catatggcat acttcattca
     9121 tatgacatag ttagaatctt ttcccacaaa caatgagtga tgatatctca tttgaaaact
     9181 cgtgtaacat tgtatcagcc actgttataa agtgatttac ccatgttagt ctcataacaa
     9241 ctctatgaga tcagtaccgt acacatgggg aaacttagta tagagaggtg aagtattttt
     9301 tccaagatta caaaataact gtctgagctg ggattcgtaa ccaggcagcc tgactccaaa
     9361 atcaatattc ttaactctat tgttatgatg gagaaaggca tgaagtctac cttcaaattc
     9421 atggcatttt agaaggaaaa attgtcgcaa gtaatgtgat tatacttcct agttttatag
     9481 gtcagaaaaa tgaggtccac actaattttg cctcttccac agggagatag attctcatct
     9541 accattgtgt cttttgtttc tgtttttgtc atgatacctc aaattgatat atgttgtaat
     9601 tatgaattta aggaagtaaa aaaataactc agggctggag ccttcagcca tattaacata
     9661 cattgacata aagacctttg ttttaatatg aatgattcca gttaacaaat ggagaaatag
     9721 ttgtttgaaa attaatattt agcttctcaa aagagactcc tgtttggaag caaattgttg
     9781 gtttaacagg acatacttta gatatttgaa aaattctctg tggaatcaca atctcttatt
     9841 tttaagaatg taggaatatg tgttctatat gcttttaagt tatgtattac atactattct
     9901 ctaaaataga aatgtttatt tggcttctaa aagtcatttg tgagttgatg ttatttaaaa
     9961 ctgcttttca gtcaacttat tctttataaa aaagtttgtt caaatagcat gtttttattt
    10021 tgtttctaaa taaattcatg tttgataata
//
LOCUS       NM_001013623             951 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger C2HC-type containing 1B (ZC2HC1B), mRNA.
ACCESSION   NM_001013623
VERSION     NM_001013623.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 951)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 951)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.141648.1,
            SRR5189667.14277.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000237275.9/ ENSP00000237275.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC146950.1 and DB515645.1.
            On May 17, 2019 this sequence version replaced NM_001013623.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..951
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q24.2"
     gene            1..951
                     /gene="ZC2HC1B"
                     /gene_synonym="C6orf94; dJ468K18.5; FAM164B"
                     /note="zinc finger C2HC-type containing 1B"
                     /db_xref="GeneID:153918"
                     /db_xref="HGNC:HGNC:21174"
     misc_feature    52..54
                     /gene="ZC2HC1B"
                     /gene_synonym="C6orf94; dJ468K18.5; FAM164B"
                     /note="upstream in-frame stop codon"
     CDS             67..735
                     /gene="ZC2HC1B"
                     /gene_synonym="C6orf94; dJ468K18.5; FAM164B"
                     /note="family with sequence similarity 164, member B;
                     protein FAM164B"
                     /codon_start=1
                     /product="zinc finger C2HC domain-containing protein 1B"
                     /protein_id="NP_001013645.1"
                     /db_xref="CCDS:CCDS47495.1"
                     /db_xref="GeneID:153918"
                     /db_xref="HGNC:HGNC:21174"
                     /translation="MAGAEPFLADGNQELFPCEVCGRRFAADVLERHGPICKKLFNRKR
                     KPFSSLKQRLQGTDIPTVKKTPQSKSPPVRKSNWRQQHEDFINAIRSAKQCMLAIKEGR
                     PLPPPPPPSLNPDYIQRPYCMRRFNESAAERHTNFCKDQSSRRVFNPAQTAAKLASRAQ
                     GRAQMGPKKEPTVTSAVGALLQNRVLVATNEVPTKSGLAMDPASGAKLRQGFSKSSKKD
                     "
     misc_feature    208..300
                     /gene="ZC2HC1B"
                     /gene_synonym="C6orf94; dJ468K18.5; FAM164B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TFG8.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    652..732
                     /gene="ZC2HC1B"
                     /gene_synonym="C6orf94; dJ468K18.5; FAM164B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TFG8.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      932..937
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZC2HC1B"
                     /gene_synonym="C6orf94; dJ468K18.5; FAM164B"
                     /note="hexamer: ATTAAA"
     polyA_site      951
                     /gene="ZC2HC1B"
                     /gene_synonym="C6orf94; dJ468K18.5; FAM164B"
                     /note="major polyA site"
ORIGIN
        1 agtatgatgt tatctggact gggctgtaaa aatctgtgaa cactgttgct ctgagttagg
       61 aacagaatgg ctggggcaga accatttttg gcagatggca atcaggaatt gtttccctgt
      121 gaagtctgtg gaagacgttt tgcagcagat gttctggaaa ggcatggacc aatatgtaag
      181 aaactcttca acagaaagcg taaacctttc agttctttga agcaaagatt acagggcact
      241 gacattccta ctgtgaagaa gactccacaa tccaagtctc cacctgtgag gaagtctaac
      301 tggagacaac aacatgaaga ctttattaat gcaatccgat cagcaaagca gtgtatgcta
      361 gccattaaag aaggccgacc cctcccacct ccaccccctc catccttgaa cccagattat
      421 attcaacgtc catattgtat gagaaggttt aatgaaagcg cagctgagcg acatactaat
      481 ttctgcaagg atcagtcttc tcgccgagtc tttaatccag ctcagacagc agccaaattg
      541 gcatccagag ctcagggtag ggctcagatg ggtccaaaaa aagaaccaac tgttaccagt
      601 gctgtgggag ctttgctgca gaacagggtc ctggtggcca cgaatgaagt cccaaccaag
      661 tcaggattag ctatggaccc tgcttctgga gcaaaactca gacaaggatt tagtaaatct
      721 tctaaaaaag attaactcct agaagccaga ctgcctccct gaaacccatc agcctggatg
      781 gttgcgtacc cgagaatgcc acctaagggg aaggaacggt agatgtgatg tctgttttta
      841 cacccttgat tcttcttgaa gcatcactta gaacaagtaa aacttgcttc agatttttat
      901 ttactccctt tgaagttttc aaaacaaaag cattaaacac atcaacctgt a
//
LOCUS       NM_001013625             774 bp    mRNA    linear   PRI 16-JUN-2023
DEFINITION  Homo sapiens cilia and flagella associated protein 126 (CFAP126),
            mRNA.
ACCESSION   NM_001013625
VERSION     NM_001013625.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 774)
  AUTHORS   Gui M, Croft JT, Zabeo D, Acharya V, Kollman JM, Burgoyne T, Hoog JL
            and Brown A.
  TITLE     SPACA9 is a lumenal protein of human ciliary singlet and doublet
            microtubules
  JOURNAL   Proc Natl Acad Sci U S A 119 (41), e2207605119 (2022)
   PUBMED   36191189
REFERENCE   2  (bases 1 to 774)
  AUTHORS   Gegg M, Bottcher A, Burtscher I, Hasenoeder S, Van Campenhout C,
            Aichler M, Walch A, Grant SG and Lickert H.
  TITLE     Flattop regulates basal body docking and positioning in mono- and
            multiciliated cells
  JOURNAL   Elife 3, e03842 (2014)
   PUBMED   25296022
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 774)
  AUTHORS   Maeda MH, Mitsui J, Soong BW, Takahashi Y, Ishiura H, Hayashi S,
            Shirota Y, Ichikawa Y, Matsumoto H, Arai M, Okamoto T, Miyama S,
            Shimizu J, Inazawa J, Goto J and Tsuji S.
  TITLE     Increased gene dosage of myelin protein zero causes
            Charcot-Marie-Tooth disease
  JOURNAL   Ann Neurol 71 (1), 84-92 (2012)
   PUBMED   22275255
REFERENCE   4  (bases 1 to 774)
  AUTHORS   Kim JM, Lee KH, Jeon YJ, Oh JH, Jeong SY, Song IS, Kim JM, Lee DS
            and Kim NS.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: EB385452.1, DT215043.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367974.2/ ENSP00000356951.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL592295.25.
            On Aug 1, 2019 this sequence version replaced NM_001013625.3.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..774
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..774
                     /gene="CFAP126"
                     /gene_synonym="C1orf192; Flattop; Fltp"
                     /note="cilia and flagella associated protein 126"
                     /db_xref="GeneID:257177"
                     /db_xref="HGNC:HGNC:32325"
                     /db_xref="MIM:616119"
     CDS             9..542
                     /gene="CFAP126"
                     /gene_synonym="C1orf192; Flattop; Fltp"
                     /note="UPF0740 protein C1orf192"
                     /codon_start=1
                     /product="protein Flattop"
                     /protein_id="NP_001013647.2"
                     /db_xref="CCDS:CCDS30921.1"
                     /db_xref="GeneID:257177"
                     /db_xref="HGNC:HGNC:32325"
                     /db_xref="MIM:616119"
                     /translation="MATNYSANQYEKAFSSKYLQNWSPTKPTKESISSHEGYTQIIAND
                     RGHLLPSVPRSKANPWGSFMGTWQMPLKIPPARVTLTSRTTAGAASLTKWIQKNPDLLK
                     ASNGLCPEILGKPHDPDSQKKLRKKSITKTVQQARSPTIIPSSPAANLNSPDELQSSHP
                     SAGHTPGPQRPAKS"
     misc_feature    345..539
                     /gene="CFAP126"
                     /gene_synonym="C1orf192; Flattop; Fltp"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VTH2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      749..754
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP126"
                     /gene_synonym="C1orf192; Flattop; Fltp"
                     /note="hexamer: AATAAA"
     polyA_site      774
                     /gene="CFAP126"
                     /gene_synonym="C1orf192; Flattop; Fltp"
                     /note="major polyA site"
ORIGIN
        1 acaagatcat ggccactaac tacagtgcca accagtatga aaaggctttc tcatccaagt
       61 atctgcagaa ctggtctccc actaagccaa caaaagagag catctcttct catgaaggct
      121 acactcaaat tattgccaac gatcgtggtc atctactgcc ttctgtgccc cgttccaagg
      181 caaatccttg gggttccttc atgggcacct ggcaaatgcc tctgaagata ccccctgctc
      241 gggtgaccct gacctcccgt acaactgctg gtgctgcctc cctcaccaaa tggatacaga
      301 aaaatcctga tttactcaag gcctccaatg ggctgtgtcc tgaaatctta ggcaagcccc
      361 atgatccaga cagtcagaag aaactcagaa agaagtctat cacaaagact gtacaacaag
      421 cacgaagtcc aaccataatt ccaagctccc cagctgccaa cctcaattcc ccagatgaac
      481 tccaaagctc acacccctct gcaggtcata ctccaggtcc ccaaagacca gccaaatcct
      541 aagagcccac ctggaagtcc acgtatgcta gaactctggg cagggcctaa tctagctgag
      601 gtccagaaat acaaacctgg aacttcatat ggaccaagtg gccacacact gaaaaacccg
      661 tatagcgact cagtgaaata aacaagagcc cccagtcaga actgtgaaac agggaaattt
      721 tggggtggga gtaaaagcaa atttggaaaa taaacttttt tttgttgaat cttt
//
LOCUS       NM_001013627           13633 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens NHS like 2 (NHSL2), mRNA.
ACCESSION   NM_001013627
VERSION     NM_001013627.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 13633)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 13633)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000633930.2/ ENSP00000488668.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL929401.8 and BX119917.9.
            This sequence is a reference standard in the RefSeqGene project.
            On May 14, 2021 this sequence version replaced NM_001013627.2.
FEATURES             Location/Qualifiers
     source          1..13633
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..13633
                     /gene="NHSL2"
                     /note="NHS like 2"
                     /db_xref="GeneID:340527"
                     /db_xref="HGNC:HGNC:33737"
                     /db_xref="MIM:301093"
     misc_feature    52..54
                     /gene="NHSL2"
                     /note="upstream in-frame stop codon"
     CDS             244..3921
                     /gene="NHSL2"
                     /note="TPT1-like protein"
                     /codon_start=1
                     /product="NHS-like protein 2"
                     /protein_id="NP_001013649.2"
                     /db_xref="CCDS:CCDS87759.1"
                     /db_xref="GeneID:340527"
                     /db_xref="HGNC:HGNC:33737"
                     /db_xref="MIM:301093"
                     /translation="MPFYRRTVVPQRLCPRNPPQQLAELRDVSHLAALSLLRQLADLCG
                     HSLALLEDLEGHLLALGRRTDSLYRRTVRLRRRLPCRLLGPEEDEEELAAANSGRENAT
                     ATAHSRSSWRQPVNVFLSSGRPPSVEELLREAQLNLQSLLQEEYEEQYSEARLVGQTFR
                     SSDEATKPTPNPRPQSARRLEFILMPTKRQLSEDETTTQGVRAPEASLSLSTTADKQTA
                     WNSLFPLPILEEKRWPQLCSTQSDIVPINISGQQFDKHASLRHSLFNTETAVNPKSTLR
                     RRRTIIGFSNFSQRDQGHSNSPAGSVAHSTTSDIRPSHSVPEGVHGRVAVGQDARFPSL
                     TSPVLRTPSSEPDEPHQARSGPNPPGMESMGMVYSVPSSCNGPTESTFSTSWKGDAFTY
                     MTPSATSQSNQVNENGKNPSCGNSWVSLNKVPPLVPKEAATLLVARDNPAGCSGSAGYP
                     ERLIQQRHMPERPSKIGLLTSGTSRLETGPGGASRFRERSLSVPTDSGTTDVDYDEEQK
                     ANEACALPFASTSSEGSNSADNIASLSAQQEAQHRRQRSKSISLRKAKKKPSPPTRSVS
                     LVKDEPGLLPEGGSALPKDQRPKSLCLSLEHQGHHSSHPDAQGHPAIPNHKDPESTQFS
                     HHWYLTDWKSGDTYQSLSSSSTATGTTVIECTQVQGSSESLASPSTSRATTPSQLSIEV
                     EAREISSPGRPPGLMSPSSGYSSQSETPTPTVSMSLTLGHLPPPSSSVRVRPVVPERKS
                     SLPPTSPMEKFPKSRLSFDLPLTSSPNLDLSGMSISIRSKTKVSRHHSETNFGVKLAQK
                     TNPNQPIMPMVTQSDLRSVRLRSVSKSEPEDDIESPEYAEEPRAEEVFTLPERKTKPPV
                     AEKPPVARRPPSLVHKPPSVPEEYALTSPTLAMPPRSSIQHARPLPQDSYTVVRKPKPS
                     SFPDGRSPGESTAPSSLVFTPFASSSDAFFSGTQQPPQGSVEDEGPKVRVLPERISLQS
                     QEEAEKKKGKIPPPVPKKPSVLYLPLTSPTAQMEAYVAEPRLPLSPIITLEEDTKCPAT
                     GDDLQSLGQRVTSTPQADSEREASPLGSSVEPGTEEKSLISDKTAEWIAEDDDDVFVAS
                     RTTEDLFTVIHRSKRKLLGWKEPGEAFVGGRTSSHSPIKNTAESPISESTATAGSGSSA
                     NLDAGRNDDFKALLQKKGSKATPRSRPSAAELLKTTNPLARRIIAQFSKDYETTDNPST
                     "
     misc_feature    724..783
                     /gene="NHSL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYW2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    820..882
                     /gene="NHSL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYW2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1114..1356
                     /gene="NHSL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYW2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1639..1773
                     /gene="NHSL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYW2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1741..1743
                     /gene="NHSL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B1AXH1; propagated from
                     UniProtKB/Swiss-Prot (Q5HYW2.2); phosphorylation site"
     misc_feature    1870..2139
                     /gene="NHSL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYW2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1969..1971
                     /gene="NHSL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B1AXH1; propagated from
                     UniProtKB/Swiss-Prot (Q5HYW2.2); phosphorylation site"
     misc_feature    2251..2541
                     /gene="NHSL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYW2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2314..2316
                     /gene="NHSL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B1AXH1; propagated from
                     UniProtKB/Swiss-Prot (Q5HYW2.2); phosphorylation site"
     misc_feature    2677..3270
                     /gene="NHSL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYW2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3367..3522
                     /gene="NHSL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYW2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3403..3405
                     /gene="NHSL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B1AXH1; propagated from
                     UniProtKB/Swiss-Prot (Q5HYW2.2); phosphorylation site"
     misc_feature    3625..3852
                     /gene="NHSL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYW2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      13610..13615
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NHSL2"
                     /note="hexamer: AATAAA"
     polyA_site      13633
                     /gene="NHSL2"
                     /note="major polyA site"
ORIGIN
        1 agagggactg gtggctccgg cgagtgtgca gccccggggg agccggcgct ctaggcgagg
       61 aacccgtcag cccgcctacc cgcccgtcgt ctttggcgcc cgcacgctct ccggcccgcg
      121 cccaggggcc tgctacaccc ggagctgggg ccgccgctca ggggcgctcg ggccaggggc
      181 gctgctcggg gtgagcccgc cgcgccgcca gactggtccc ctgcgcccgc gcccgcggcc
      241 gggatgccgt tctacaggcg cacggtggta ccccagcgcc tgtgcccgcg caacccgccg
      301 cagcagctgg cggagctccg cgacgtgagc cacctggcag cgctcagcct gctccggcag
      361 ctcgccgacc tctgtggcca ctcgttggct ctgctcgagg acctcgaggg gcacctgctg
      421 gccctggggc gccgcacaga cagcctgtac cggcgcaccg tgcgcctccg ccgccgcctt
      481 ccctgccgcc tgcttggccc ggaggaggac gaggaagagc tagctgcagc taactcgggt
      541 cgggaaaatg cgacagcgac tgcccactcg aggtcgtcat ggcgacagcc agtgaacgtg
      601 ttcctctcct cgggcaggcc cccgagtgta gaggagctgc ttcgggaggc gcagctcaat
      661 ctccagagcc tgttgcaaga agaatatgag gaacagtact cggaggccag acttgtgggg
      721 cagaccttcc gctcttctga tgaggccact aagcccaccc ccaacccaag gccccagtct
      781 gccaggcgtc tggagtttat attgatgcct acaaaacggc agctgagcga ggatgagact
      841 accacccagg gtgtgagggc ccccgaggcc tccctgagcc tgtctaccac agccgacaag
      901 caaactgcct ggaatagcct tttccctctg cccatcctag aggagaagcg gtggcctcag
      961 ctttgctcca cgcagtctga cattgtgccc atcaacatct ctgggcagca gtttgataaa
     1021 catgcaagtt tgcgacactc gttgtttaac acagagacag ccgtgaaccc caagtccacc
     1081 ctgaggcgga ggcggaccat tattggattc tctaactttt cccagcgaga ccaaggtcac
     1141 agcaacagcc cagcaggcag tgtggcccac tctaccacct ccgacatcag gcccagtcac
     1201 tcagttccag aaggggttca tggaagagtt gcagttggtc aggatgctcg gttcccaagt
     1261 ctcacctcgc cagtactgag aactccttcc agtgagccgg acgaacctca ccaggcacgg
     1321 agtggcccaa accctcctgg catggagagc atgggaatgg tgtacagtgt ccccagttct
     1381 tgcaatggac ctacagaatc aaccttctcc acttcctgga agggagatgc ttttacctac
     1441 atgactccaa gtgccaccag ccagagcaat caagtcaatg aaaatgggaa aaatccttcc
     1501 tgtgggaatt cttgggtctc tctaaacaaa gtcccacctc tggttcctaa ggaggctgct
     1561 accctccttg tcgctcgtga taacccagca ggatgcagtg ggtcagctgg ctaccctgag
     1621 cgccttattc agcaaaggca catgcccgaa agaccctcca agattggcct tctgaccagt
     1681 gggacctcga ggctggagac aggccccggt ggggccagca gattccggga gcggtcactg
     1741 tctgtgccca cagactcagg caccacagat gtggactatg atgaggagca gaaggccaat
     1801 gaggcctgtg ccctgccttt tgccagtacg agctctgagg gcagtaacag tgctgacaac
     1861 attgcctccc ttagtgccca gcaagaggcc cagcacagaa ggcagaggtc caagagtatc
     1921 tcacttagga aggccaaaaa gaagccttcc ccacccacac gcagtgtctc actggtcaaa
     1981 gatgagccag gcctcttgcc tgaaggtggg tcagcactac ccaaggacca gaggcccaag
     2041 agcctttgcc tctccttgga acatcaagga catcactcgt cccacccaga tgctcagggt
     2101 cacccagcta ttccaaacca caaagatcca gaaagtacac aattctccca ccactggtat
     2161 cttactgact ggaagtctgg tgacacctac caatccctgt ccagctccag cactgccact
     2221 ggcaccacag tcattgagtg cacccaagtt cagggcagct cagagtctct tgcctcacct
     2281 tccacctcca gagccactac accttcccaa ctctccattg aagtggaggc cagggagata
     2341 tcatccccgg gaaggccccc tggactgatg tcaccctcca gtggctactc cagccagtcg
     2401 gaaacaccaa cacccactgt ttccatgtcc ctgaccctgg gccacttacc ccctccaagc
     2461 agcagtgtcc gggtacgtcc agtggtacct gagaggaagt catcactacc cccgacgtca
     2521 ccaatggaga aatttcccaa gtcacggcta tcatttgacc taccactgac ctcttcaccc
     2581 aacctggatc tgtctgggat gagtatctcc atccgaagca aaactaaggt gagtcggcac
     2641 cactcagaga caaattttgg cgtcaagctg gcccagaaaa ctaatcccaa ccagccaatc
     2701 atgcctatgg ttactcagtc cgacctacgt tctgttcgcc tgaggtcggt cagcaagtct
     2761 gagccggaag atgatattga gagccctgag tatgccgagg aacccagagc agaagaagtc
     2821 ttcaccttgc cagagagaaa gacaaaacct cccgtagctg agaagcctcc ggtggcccgg
     2881 aggcctccaa gcttggtcca caagccacca tctgttcctg aggagtatgc actaacttca
     2941 ccaaccttgg ctatgccccc caggagctca attcaacatg cgagaccact ccctcaagac
     3001 agctacacgg tagtgcggaa accaaagccc tccagcttcc cagatggcag aagcccaggg
     3061 gagtcaacag caccctcatc tcttgttttc acgccttttg ccagttcctc tgatgctttc
     3121 ttctcaggaa cacagcagcc tccccaggga agtgtagagg acgagggccc caaggtgagg
     3181 gttctgcctg aaagaattag cctccagagc caggaagaag ctgagaaaaa gaaaggcaag
     3241 attccacctc ccgtaccaaa aaaacccagc gtgctgtacc tgcctctcac ttctcccaca
     3301 gctcaaatgg aggcctatgt ggcagaacca aggctgcctc tcagccccat catcaccctg
     3361 gaggaagaca ccaagtgtcc cgccaccggc gatgacctgc aatcacttgg tcaaagggtg
     3421 acttcaactc ctcaggctga cagtgaaagg gaggcaagcc ctctggggag ttctgtggaa
     3481 ccaggcaccg aagaaaaaag tttaatcagt gataaaacag ctgaatggat tgcagaggat
     3541 gatgatgacg tgtttgtggc ttcacgcaca actgaagatt tatttactgt gatacacagg
     3601 tccaaaagga agctgctcgg ctggaaggaa cctggtgagg cctttgtggg tggcagaacg
     3661 agttcccact caccaataaa gaacacagct gagtctccaa tcagtgagtc taccgccact
     3721 gcagggtcag gcagcagtgc caacctagat gctggcagaa atgacgattt caaggccttg
     3781 ctacagaaga agggaagtaa ggcaactcca aggtctcgtc cctcagcagc tgaacttctg
     3841 aagaccacta acccactggc tcggagaatt attgcacaat tttcaaaaga ctatgaaacc
     3901 accgataacc ccagtaccta agccctgggc tcaacaagca gggtttactt actaaacttg
     3961 agtagagaag ggggaagaga aagggtcttt aaacagaacc atgggaacaa cagagcctac
     4021 atttctttta tattaactca cactctggac agcaggagag aggctacttc atctagagct
     4081 aaaatcatct ggcacttaat catcttcaga catttttatg ttttcatact tataagcttg
     4141 tcatgactga ctaccgagtt tcttcttatt ttcccccagt ggtgtgcact aactaagaag
     4201 aaattttcag atgtcagggc acatgtgcca ctttttcaat tcagtgaccc ggctgctcca
     4261 tccctggctc ctgtcactga ggagtgcagt gtgagagcag attggaggct gccaaacttg
     4321 gggggcatag ggtgccattg cttattattc actttcctag ggaggctctg atggccctgt
     4381 gtgcaaacac agaaagactc tgatgcctcc tcaaccacag tttagctttc ccctgcgctc
     4441 acaagaggtt tgcagggtgc acttatttcg gcatgaggtt gattggatgg cttttgtggt
     4501 gcaaaatatg actgtgactc tgtcctgaaa cttaatgcct ttttcagttt gattgtctac
     4561 atggagatca gggtgataag tttcaataaa catatagacg cccccccacc cacccccatt
     4621 agctagaaaa gaccaggact gggttgcttt aaatgaacca agcttgacca acaaacaaga
     4681 cagccatttg ttcactcaga tctagccgag gtaactcaca agtgcacctt gagatcctcc
     4741 atgtgtctgt caacagcgat aggcaggatc tgcgcccagc tcatgctgca ttctaagaac
     4801 tctcatttca tttgcatata aaattcatta caggaagtaa ttaactgaag gaacagcatc
     4861 atcaaaggct caaggataat ggaaagtaag tgcatcttgc cccccaccag tcaattcaga
     4921 tcgtggtttg tggttggttt ggttttgttt aaaggaagtc cgactctgtt ccaaaaacca
     4981 agaacatata aactaaaagg atctatccaa aatctaaaag gcagtcttgc cagttgctat
     5041 ggcccataat gcacacacac acacacacac acacacacac acacacacac acaaaagggc
     5101 tactttttgc catttaggtt ctgtgtttga ccagctttca attaaccttg ctgggggaga
     5161 gcataagaac ctgggtaaat ggcatactga aagagcttca gaataatcat tgcgacccct
     5221 ccctgccccc accccccacg aagcttatag gcactaacta ttcttgtcag ctcaattttc
     5281 taagcagagc aagagcagtg attcatttga tttttgtatg cctgatttct gggaggttgg
     5341 ggaggaagac aaagcactga gcaaagaaaa cctgctgacc aatgatggaa agttaattgt
     5401 ctactgtctt caagaggcaa aaagaacagt tgaatgaaat tgtagcctgc ttcacaaaga
     5461 gagttcccca gccccttcct acttcacccc tcacccaata gattcaatgg tcaacctcct
     5521 ggaggatgca gtaaggttcc agagacaagc agatctcaac tttgataggt cgtattgccc
     5581 aatgagaagc caccttttag ctcaactgcc cacactccag ctggacagag cagctgaaaa
     5641 accacactaa gtactgagaa aacttgggcc tctcacaaga gaagccctag gcctaggccc
     5701 tttgttgtta tagttctgaa tctgagactt ctggaaacag gccaggccca ccaactccct
     5761 tgcaaccagc acttcgacac ttaaaataat aaaacagcta ggctcagttg cttttgaaag
     5821 tactagaact acttggtgtg aagttcttaa ccaaattcca aattccaggg attttgccca
     5881 aaataaaatc aattcatccc tggcctcagt ttatatatga atgccacatt tgtctgctcc
     5941 agacttagaa ttccaaaaaa cagacatttt cctctgtagt aaatgaagga gcgtttgtgc
     6001 ttttgcttag caaaaatgaa aggacaccag ggtctccttg ggaaccatta tgactggttg
     6061 aacgttaaag ctgagtatgg gactcacata gtataggcct tgttacttct gtggactttt
     6121 ctggaagttt cttgtttact acttctaatg ggttttgcct ctcccctcac cttgctacct
     6181 ctggaggttt tcccaaaaga ttctgaacct gaattctcag acaccttgat gtttgtcagt
     6241 tacctttagt cttgttttcc tctacaatac tctatatgcc tggaattttt agaatatctt
     6301 ctacatcatc actgtggccc acgcagtggt gttcccatta gcacaagagg atttggggca
     6361 gaaatcatat ggtcagagag aacatttaag accggaagta ttcatttaat tttttaaatt
     6421 aattttttgt aaagatgggg gttttgctat gttgcccacg ctggtcttga actcctgagc
     6481 tcaagcgatc ctctcgcctt ggcctcccaa agtgctggga ttaaaggagt aagccactgc
     6541 acctggcctc atttaatatt ttgcaacagg tagacgtccc aaataaacaa ccaaactgta
     6601 aaatttctac taatcactaa ttaacagaac acaaagcatc ttccccactc ctaacactca
     6661 acctctctcc tacctttgat tatcataact ccactctctc tcccacccag gcacttacca
     6721 caatgtttgc tgccttctgc acctacgctg ctgagactgg agaagagagg ctgaaagccc
     6781 ctctcagaaa ggcttgcaga gaacccacca ctactacaat tactagtata aataataatg
     6841 ataataattt ttgaaggtgg aatagagaag agatttgagt gaaatgaagt tggccctagg
     6901 agctcagctt ccatttcaag tcgtccctat cctctttttt cctccccatt ccagttagta
     6961 gcaacagatg gctctgctag cctgactttg atctagtcac catccccagg agcggaggtt
     7021 aattgttaac caaggatgct ttgcatttgg tgggtagtca gtacatgttt ttgagggtag
     7081 ttattcttgg tacaatagca agctttgctg gtgtctcctc tccttatcct gtactacttg
     7141 gcctgcctca gctcctgact gggcctcccc caccagcccc aacttattcc tcagccccaa
     7201 cttatccctc agccccaaat cccatgaact gcatccctag cacaacaact cacccataaa
     7261 ggaagtgaga caacaggaag caaaataatt aatgttagct taatgaccac aaactgacca
     7321 gttgatctgg ataaattacc ttgaacgtgc aaagacagag gagatcctac caggctctcc
     7381 taacaagcac tgcacctgac atccagtgta actatctgga caacacagac ccgattgcag
     7441 tctctctgta cctgtcagtc tgagcagatc tgtccacgca cctgccctct tcctcatcaa
     7501 tgaacaagtt gggaaaaaga tgagttcatg ctcagtgctc tgttcctcac tcgttccacc
     7561 ttccattatc aagtctgtga cacaatggtg agctttcgct ttaatatgat ttgctagggc
     7621 caggactagg gtgaggtgag cgaggcacct agggcgtaaa attcaaagag gtgcccgctc
     7681 tcagggccat gcaagtgcct taccctcgtc ccagccctgt gatttgcact ctttaaagta
     7741 atatcagttt atcttcttcc tatgaacaag tatagtcctt ctgatttggg gtcgggggtt
     7801 aactccctat ctcttgttgc accaaatatt ttattgctac ctatttttcc attgctataa
     7861 gtctttgtgt gcctatacat taaagaatct ttaatagtgt taatatcgga aaacatagtt
     7921 gatttctaag taatatgctc caggtggcaa gttaacaccc atttcagcag ggatgctccc
     7981 aaggccagcc cttcaacaaa agagtgactg agttgacggt ctgtcaccag gatcctccct
     8041 ctcctctttc tgctccattc tcctaaacct tgcttcccag caccaactct cttcagtgcc
     8101 tcctacttcc ttctcctcct aagaaaaacc tgctctcagg aaagggataa attcatttac
     8161 tttgagatta taaggcttaa tgctacctct tttgagggtc agttgcattt taacaaggga
     8221 aaagccttaa gccaatggaa tgaagttcta cttgcagaat gttaggcatc aactagttgt
     8281 agaagtgtat ttttcaccat ggaaaggcca aattccctga cgcctaactc cagaatatag
     8341 aaaatatctt aatcgcctgg aatcatttga gttactagct gatggtcaat taaattgtcc
     8401 tgatatccaa tgctattcaa tatggttact accaagggac tctcagaaat ggctactaaa
     8461 agccactgag aaggcctaga tcattcatat tgtacattga catttttaca taaatggaat
     8521 taatactact taccatttga gtaaagaaca caaggaattg aagagtctgt gaaaatatgt
     8581 cctgtttgtg aaaggtgaaa ctgtccaatc catgtccaat caatgtcagt cgtccagtat
     8641 tggtggtgat tattaaactt attggaggta caactttacc tccaataagc ttacctttac
     8701 aagcttctgc tttccctgct tcatctctgt tatgggctat cagtccagct tggtgtgaaa
     8761 atgagactat atctatacca cagcccccaa tcctttcaaa ggctttgcat gtatttcagc
     8821 tacaagtgac aaggatatta gggatttaaa aggataagag agtgggaaag atgtataagg
     8881 aagtgccttt gtcaaaaggc agcaaaaagt ataatgatat aaacataata tgaaataagc
     8941 aaattttaga atactttgaa acagatttat agaggaatac atagtaaata gttatagaca
     9001 cacatttggg gcatttttaa taaggttagc aagaagaaat ttgcatgagt aatgagcaat
     9061 gtgaaatggg cattatactt ttgttcagta aagcccaaaa tctaggccaa tggttctcaa
     9121 agtgcagttc caggagcagc aacagcagca tccctggaga gggagaaaga gagagagaga
     9181 gagtgtatgt gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gtgtgtatgt gcattccagt
     9241 gatgttactc cttcaagccc ctgaatcact atagccacga ctctccaact gattccaacc
     9301 tttaccatta ttctggctct catcataagg accagtctct ggccaagagg tgtatattgt
     9361 tatcttggtc aggcatatgt ttgcttggtt ttaagaaatt atcagattga ggagtctcat
     9421 gttttatggg actccggtgc atatgctcga aaaaaattaa aaagaactta tcatattgga
     9481 tcaacaaatt gctcaacctg caaaatcttt gattagactt agccagccca tctggcctgc
     9541 tttgggttta aaaaaaaaaa aaagattttt tttaactcac aaatggaaaa aagggaaagg
     9601 tgttaagttt gtttggtatt gccagctctt aaatacctgt ctttaccgtg gtggctgttc
     9661 tccagtaagg ctctggcaga agtatatttg attttaagat ttttgcctaa atagtagaat
     9721 ttgatagcaa cgaactccaa aacaaaatct gaactggaac aactagttaa cccctctcag
     9781 cctctttgta atgccaagct ttatagacat ttattcctta ggtggtcttg agctttttct
     9841 aacatccaat tttataaaat gttgtgcatg caaacgcagc attgtgctca ttgtacaagt
     9901 cacctcaaac tcattccttc ccccatgtgt atcatggcga agaaatatca atatatgtat
     9961 gtgctgaggt cttctgatga attgtaaatt acaaaccttt tcattcattt ttaaatgaga
    10021 tatatttacc ctggctagtg gttaaagttt tattcttttt attatatttc actgctactt
    10081 ttttctactg actccaaagc ttactttggg ctatatttct tatttctaga ttgttgtatt
    10141 tatcttattt ctatatttat ctgcagtctt ggaatgttag agctgaaagg gaccaacctc
    10201 tctcatttca cacatgagga agctgaggcc cagaaaggtc aaataactta tatacaaggt
    10261 cacacagtga gtcagtggtg gggcccagcc tcaattccag gtctcctgcc cttgggccca
    10321 atctggtttc atttaaagca ctacaattta tagaagaccc acagctggct tctactttta
    10381 tgacacatga atttcccagg tatttcaatg aactaatata tatgctttaa gggaaaatgt
    10441 tcaagagttc tttaattcat taatccaaag acaaattgga ttttcagttt ataaacatta
    10501 gtttccctcc aaattcaata tgtgcaccct acttagtaca atggatgttt tccctaaaag
    10561 ttgtgtgaaa aatgagtttt ttagatatca agtatcattt tttagaggta aacttcctat
    10621 gtaagggaac cttctggtga cttctttttg aaaaaccgag attcctcttg tcattgtccc
    10681 ataatgtctc tacttttttt agtgcaaact tttgtatttg gtgtttattt aaaagtaggg
    10741 tacaacccaa ccaatattag ctttcccaga gtctacttta gccttccctt cttaatcttt
    10801 atgagaaatt ttcagactgt taaatgctca tgagatattt agttgtgttc tagaaatttc
    10861 acctggcttg atattctgtc aatccctggg ctcaaattcc agctccatct tatcaaacaa
    10921 taacagaatt ccctaatcag tactaagctc cgcatgcagt ctcttttcca gaacattctt
    10981 tgcctaatgt tccttagtgt ggctctctct ttagttgggg cctccttcct tagtacatgc
    11041 ataccttact attctgtgga attgcaagcc atgcatcttt tagagccaca ctagtcaaat
    11101 tgattggcat ttccatttat tttccattgt tcccttgttt ctcctggact tcctctcgtt
    11161 tctcttttcg aggatgctta gaggcttctc accagagatt ggtgaggttt cccccatcat
    11221 ctagatggga gattgacaaa ttctgtaaag gttaagacag taactatttt aggctttgtg
    11281 ggctacatgt ggtctctgta gcacattctt ctttgttgtt gctgtttgtt cattcgtttg
    11341 ttttgcaacc tttggataat gtaaaccact ctcttttttt ttgacagagt ctctctctgt
    11401 agccaggctg gagggcaatt gtacaatctc ggctcattac aacctccacc tcccgggttc
    11461 aggcaattct cctgcctcag cttcccgagt agctgggact ataggtgcgt gccaccatgc
    11521 ccagctaata tttttttttt ttttgtattt ttagtagagg cagagtttca ccatgttggc
    11581 caggatgttc tcgatctcct gaccttgtga tccgcccacc tcggcctccc aaagtgctgg
    11641 gattacaggt gtgagctacc gcaccctgcc aatataaact attcttagct catgggctat
    11701 gcaaagcctt aggctgaccc ctgatccaga ctgtcttctg agacaagcat ttctgtgagc
    11761 tgccccatgt gataactgag ttgtgcagta gctgatgtgg tttattgcct tcccatctac
    11821 tgcattgtca gaccagactg actgcacagg agcaggtgga ggggggctgc atatgccaac
    11881 cattactctt caatagagtg tccttcatga gctctctctc tctctcatta ctgactacct
    11941 cagtgtagaa accctcattt ttttccccag acctatcctt gttacccaat gtgcctctgc
    12001 ttccctgggt ttgggataaa ctggaaggag agaatttctg agttctctta cttattttgt
    12061 tccataactt ctccctcata tctgtggttg gagactccca cccttgtcca ccctttcctg
    12121 cctcatacta gtatcatgag tttagggctg tcgttggaaa gtctggcagc ccaggccata
    12181 ggattccagt tcagcctacg atttcctagg gaaatcacca ggttccaaag gctggttttt
    12241 aaacctagaa tatccatgta tccatttcct aatgcagttt ggacctgttc tagacagagc
    12301 actcagcctt agcaagaaaa ccaatgaggt gcagaagata ttctgtgccc acagtttttc
    12361 cctgccttct ggaccctcag cccctgggat gggctccttg ggattgccca tgcaacaaca
    12421 cagccacaag acattcagca caccacctcc tcctgtgttt tgaatctcta aatgaattct
    12481 gttctaaagc ttcttcacgt ctctctccat cctgctccca tctccacctc taatgcttct
    12541 tgggagtctg aagctcagat tcacattttc acattttctc gtataaacgt tgtgggataa
    12601 gaatggatga tatgtatgtg tctgtgtgag tttggtttct caacctggac tgtgagggct
    12661 aattcacaaa tcacaccata catgcgtgtg tgcatgcgcg cgcgcacaca cacacacaca
    12721 cacacacaca cacacacagt ccagcaccct catcagttct ctggtttagg tccagatctg
    12781 atgggactgg tcaagaaggg gatggtgggg gctcctgaag catttgccct ttcttgcctc
    12841 ttgagacctt ctttccattg gcaattcaaa acaggctgac atacagaggg ctagcactct
    12901 aatttgatgt ggactcagcc actcagacct aggtctcagg ctgcagctta tcctagctca
    12961 gcaaattgct tcttagaatc tttagcttga tttctgtcat ttgagcccag ggatctaccc
    13021 acttactgaa atctaaattt taaaaaatca gtgatgaaag taattttcag gatttcccta
    13081 tttaaaagca tccatgaaac agttccttta tgccttctgt ttaggatttc cagaattagg
    13141 aagggaaacc aggcttgtgc cttggatcca aaagcagcaa aaatactaca cttgccaaaa
    13201 gcaaactgag gaatgagcat tggccagtcc tagtatgcag tcaagaggtg gacttttgtt
    13261 aagttagccc ttaccattta gtgcttactg aatgccaaca atgcacttag aaaaataagg
    13321 gagacaagaa tttacagacc ataccctaaa ctggaaggta caggaaagac acatctccta
    13381 gagctgggaa tgtgtcccta acatttcaag aagaagcaga aagtaggaga gatcacgatc
    13441 tcagtctttt taggattcca acacaaaatg gaagggagcc ctctgtgggg tgatattaca
    13501 aagggttttt cttgtctttc tttaaaaaaa aaaaggcatt ccttactggc ttgctaccag
    13561 caattgaact gtattcttta tatagctaga gctgtttgtg tcttcttaaa ataaactttt
    13621 tctgttaaaa tca
//
LOCUS       NM_001013628            2791 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens DDB1 and CUL4 associated factor 12 like 2 (DCAF12L2),
            mRNA.
ACCESSION   NM_001013628
VERSION     NM_001013628.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2791)
  AUTHORS   Jin J, Arias EE, Chen J, Harper JW and Walter JC.
  TITLE     A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2,
            which is required for S phase destruction of the replication factor
            Cdt1
  JOURNAL   Mol Cell 23 (5), 709-721 (2006)
   PUBMED   16949367
  REMARK    GeneRIF: Functionally characterizes other DDB1- and CUL4-associated
            factors, including the DCAF12 factor which most closely resembles
            the product of this gene.
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: SRR1803612.100109.1, SRR1660809.50847.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000360028.4/ ENSP00000353128.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL445072.17, BC136674.1 and
            AY726580.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001013628.2.
            Summary: This gene encodes a member of the WD repeat protein
            family. WD repeats are minimally conserved regions of approximately
            40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD),
            which may facilitate formation of heterotrimeric or multi-protein
            complexes. Members of this family are involved in a variety of
            cellular processes, including cell cycle progression, signal
            transduction, apoptosis, and gene regulation. This gene appears to
            represent an intronless retrocopy of a related multi-exon gene
            located on chromosome 9. However, the CDS of this intronless gene
            remains intact, it is conserved in other mammalian species, it is
            known to be transcribed, and it is therefore thought to encode a
            functional protein. [provided by RefSeq, May 2010].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2791
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq25"
     gene            1..2791
                     /gene="DCAF12L2"
                     /gene_synonym="WDR40C"
                     /note="DDB1 and CUL4 associated factor 12 like 2"
                     /db_xref="GeneID:340578"
                     /db_xref="HGNC:HGNC:32950"
     misc_feature    234..236
                     /gene="DCAF12L2"
                     /gene_synonym="WDR40C"
                     /note="upstream in-frame stop codon"
     CDS             366..1757
                     /gene="DCAF12L2"
                     /gene_synonym="WDR40C"
                     /note="WD repeat-containing protein 40C"
                     /codon_start=1
                     /product="DDB1- and CUL4-associated factor 12-like protein
                     2"
                     /protein_id="NP_001013650.1"
                     /db_xref="CCDS:CCDS43991.1"
                     /db_xref="GeneID:340578"
                     /db_xref="HGNC:HGNC:32950"
                     /translation="MAQQQTGSRKRKAPAVEAGAGSSSSQGLAAADGEGPLLPKKQKRP
                     ATRRRLVHYLKGREVGARGPAGLQGFEGELRGYAVQRLPELLTERQLDLGTLNKVFASQ
                     WLNARQVVCGTKCNTLFVVDVQSGHITRIPLMRDKEAGLAQAHQGCGIHAIELNPSKTL
                     LATGGENPNSLAIYQLPTLDPLCLGDRHGHKDWIFAVAWLSDTVAVSGSRDGTVALWRM
                     DPDMFNGSIAWHSEVGLPVYAHIRPRDVEAIPRASTNPSNRKVRALAFSGKNQELGAVS
                     LDGYFHLWKARSTLSRLLSIRLPYCRENVCLTYCDELSLYAVGSQSHVSFLDPRQRQQN
                     IRPLCSREGGTGVRSLSFYQHIITVGTGHGSLLFYDIRAQKFLEERASSSLDSMPGPAG
                     RKLKLACGRGWLNQDDVWVNYFGGMGEFPNALYTHCYNWPEMKLFVAGGPLPSGLHGNY
                     AGLWS"
     misc_feature    366..509
                     /gene="DCAF12L2"
                     /gene_synonym="WDR40C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VW00.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    630..776
                     /gene="DCAF12L2"
                     /gene_synonym="WDR40C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VW00.1);
                     Region: WD 1"
     misc_feature    777..917
                     /gene="DCAF12L2"
                     /gene_synonym="WDR40C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VW00.1);
                     Region: WD 2"
     misc_feature    918..1121
                     /gene="DCAF12L2"
                     /gene_synonym="WDR40C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VW00.1);
                     Region: WD 3"
     misc_feature    1122..1256
                     /gene="DCAF12L2"
                     /gene_synonym="WDR40C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VW00.1);
                     Region: WD 4"
     misc_feature    1257..1388
                     /gene="DCAF12L2"
                     /gene_synonym="WDR40C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VW00.1);
                     Region: WD 5"
     misc_feature    1389..1568
                     /gene="DCAF12L2"
                     /gene_synonym="WDR40C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VW00.1);
                     Region: WD 6"
     misc_feature    1569..1700
                     /gene="DCAF12L2"
                     /gene_synonym="WDR40C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VW00.1);
                     Region: WD 7"
     regulatory      2765..2770
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCAF12L2"
                     /gene_synonym="WDR40C"
                     /note="hexamer: AATAAA"
     polyA_site      2791
                     /gene="DCAF12L2"
                     /gene_synonym="WDR40C"
                     /note="major polyA site"
ORIGIN
        1 acactgactt cgctcccgca gccatccaga cagacactct tcccgctctc gcctaggtct
       61 gcaccgccac tgccgccctt gccgccgcgc ttcgccccgg ctctgctacg tcaggccgcg
      121 catctctggc caggacgacc gctgccgccg ccgccgccgc cgagcctcag actgaagtct
      181 gggcgcccgc gatcgcacca gcttcttggt cttagagatc ctgagctctc ggctgacgcg
      241 gaagcgcagc catccccacc accgccgcca cggccaacac gggtgccacg cgccgccacc
      301 gccgccgggc cgccgccgcc gccgccgccg ccgccgccgc tgctgcagat cgcccgccgc
      361 ccaccatggc ccagcagcaa acaggtagca ggaaacggaa agcgcccgcg gtcgaggcgg
      421 gagccgggag ctcgtcgtcg cagggtttag cggcggcgga cggagagggg cctctgctac
      481 ccaagaagca gaagcggccg gcgacgcgtc gcaggctggt gcactatctg aagggccggg
      541 aggtaggagc gcggggccca gccgggctcc agggcttcga gggcgagctg cggggctacg
      601 ccgtccagag gctgcccgag ctgctgacgg agcgccagct ggacctgggc accctcaaca
      661 aggtgttcgc gtcacagtgg ctgaacgcca ggcaggtggt gtgcggcacc aagtgtaata
      721 cgctgtttgt ggtggacgtg cagtcaggcc acatcacgcg catccccctc atgcgggaca
      781 aggaggccgg gctggcccag gcccaccagg gctgcggcat ccatgccatc gagctgaatc
      841 cctccaagac gcttctggcc accggcggcg aaaaccccaa cagcctggcc atctaccagc
      901 tgcccaccct ggaccccctg tgcctgggcg accgccatgg ccacaaggac tggatcttcg
      961 cagtcgcctg gctgagtgac accgtagctg tgagcggctc ccgcgacggc accgtggctc
     1021 tgtggcggat ggacccagac atgtttaatg gcagcattgc ctggcacagc gaggtgggtc
     1081 tcccagtata tgcccacatc cgtccgaggg atgtggaggc catccccagg gccagcacca
     1141 accccagcaa ccgcaaggta cgggccctgg ccttcagcgg caagaaccag gagctgggag
     1201 cggtgtcctt ggacggctac ttccacctgt ggaaagcccg gagcacacta tccaggctcc
     1261 tgtccatcag gctgccctac tgccgagaga atgtgtgcct gacctactgt gatgagttgt
     1321 ccctgtacgc tgtgggctct cagtcccacg tctccttcct ggatccgcgc cagcgccagc
     1381 agaacatccg gcccctgtgc tctcgagagg gtggcacagg cgtgcggtcg ctgagcttct
     1441 accagcacat catcactgtg ggcaccggcc atggttccct gctcttctat gacatccgcg
     1501 cccagaagtt cctggaggag agggcctctt ccagcctgga ctccatgccg gggcccgcag
     1561 ggaggaagct caagcttgcc tgcggcagag gctggctcaa ccaagatgac gtctgggtga
     1621 actactttgg tggcatggga gagttcccca atgcgctcta cacccactgc tacaactggc
     1681 cggagatgaa gctctttgtg gctggggggc ctctcccttc aggcctccat gggaactacg
     1741 caggcctctg gagttaagga tggacgcctt gttctcaaag tgcacaggtt tacctttcag
     1801 ttccgcctga ctttccttct tcatgctgca tttgtgcttt taactttgtg tggcttttgt
     1861 cttccaggtg gaaccagtcc aacttacgtg tgcttaatgt attaggcaga gaaagaaaga
     1921 gagagagcgg gagcgagaga gcacaagtgg tcctttcggc agtcaaaact ttggctttaa
     1981 aactctcatt cacgtttccc aacagcagta tatttttgcc ttctcattca aagagttttg
     2041 gctaaacctt aattgtgttc tgtctttcag tgattcacat accctccttc tttaggttga
     2101 tgtagtcata gtcttcacta ctattcagta cgttagtttt atcaatattg caatagtgtt
     2161 cagatctttt acacatgtta gatgtgtggt gttttgggga aatgtgagct acaaagcatc
     2221 tttggggttg ttttgaggaa ctacccatca tttatagcct tactctaatt acaaaatgca
     2281 gttcaggttc tagattgcca ccattctaga gtgtggcaca caccattcta gggcgtgatt
     2341 catttggatg ttggaaactc aatgtctgtt gtttgtatag tgttgatgtg taaaatgctt
     2401 taaaaatatg ttctgttagt tagaaatctt acaatgttgt tcatactatt aatcaacatt
     2461 tttggttatt cagtaaaact ttactatcct caggccctcc gtgttcttat ttaaagccgc
     2521 tgtattatgg cctgcttttc tatgctacag attttcagaa ctactcaatt ctggtctata
     2581 tatgtggtag tgcaatcagg gaggtatttt tgggggtata tggggtacac atctctttaa
     2641 attcaggtag ctatttacag tgaaaagcca gttgtggcag ttgtgctcag agtaggtgtt
     2701 gattttttat tactgtatac atggataatt ctggatccag tatgtgatgt gttgcagaaa
     2761 aataaataaa atgtgttcat catcttagca a
//
LOCUS       NM_001013630            2027 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens arylacetamide deacetylase like 4 (AADACL4), mRNA.
ACCESSION   NM_001013630
VERSION     NM_001013630.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2027)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376221.2/ ENSP00000365395.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC254633.1.
            On Jul 10, 2020 this sequence version replaced NM_001013630.1.
            Sequence Note:.
FEATURES             Location/Qualifiers
     source          1..2027
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..2027
                     /gene="AADACL4"
                     /note="arylacetamide deacetylase like 4"
                     /db_xref="GeneID:343066"
                     /db_xref="HGNC:HGNC:32038"
     misc_feature    364..366
                     /gene="AADACL4"
                     /note="upstream in-frame stop codon"
     CDS             463..1686
                     /gene="AADACL4"
                     /codon_start=1
                     /product="arylacetamide deacetylase-like 4"
                     /protein_id="NP_001013652.1"
                     /db_xref="CCDS:CCDS30590.1"
                     /db_xref="GeneID:343066"
                     /db_xref="HGNC:HGNC:32038"
                     /translation="MAVPWLVLLLALPIFFLGVFVWAVFEHFLTTDIPATLQHPAKLRF
                     LHCIFLYLVTLGNIFEKLGICSMPKFIRFLHDSVRIKKDPELVVTDLRFGTIPVRLFQP
                     KAASSRPRRGIIFYHGGATVFGSLDCYHGLCNYLARETESVLLMIGYRKLPDHHSPALF
                     QDCMNASIHFLKALETYGVDPSRVVVCGESVGGAAVAAITQALVGRSDLPRIRAQVLIY
                     PVVQAFCLQLPSFQQNQNVPLLSRKFMVTSLCNYLAIDLSWRDAILNGTCVPPDVWRKY
                     EKWLSPDNIPKKFKNRGYQPWSPGPFNEAAYLEAKHMLDVENSPLIADDEVIAQLPEAF
                     LVSCENDILRDDSLLYKKRLEDQGVRVTWYHLYDGFHGSIIFFDKKALSFPCSLKIVNA
                     VVSYIKGI"
     misc_feature    475..537
                     /gene="AADACL4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VUY2.1);
                     transmembrane region"
     misc_feature    817..825
                     /gene="AADACL4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VUY2.1);
                     Region: Involved in the stabilization of the negatively
                     charged intermediate by the formation of the oxyanion hole.
                     /evidence=ECO:0000250|UniProtKB:Q5NUF3"
     misc_feature    964..966
                     /gene="AADACL4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5VUY2.1); glycosylation site"
     misc_feature    1267..1269
                     /gene="AADACL4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5VUY2.1); glycosylation site"
     regulatory      2008..2013
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AADACL4"
                     /note="hexamer: AATAAA"
     polyA_site      2027
                     /gene="AADACL4"
                     /note="major polyA site"
ORIGIN
        1 gggaagctag ctagggagct ggggtgagac gtgctgtgct caccctaacc acactctgac
       61 aaggaaagct ggcgaagtct cttatcttac agttgaaaga tcaggccctg gaggcctata
      121 taacccatat gagatctctt tctagggttc ccaggagccg aggtgcccat ctgagcctga
      181 tcttcctgaa atctttggga agctcacctt ccaagactcc ccatgatgag cagtattgat
      241 ttttctgggt ccccacattg cttagggaaa taggttcctc cacctcccat tggccttttt
      301 gtgcttaccc tgagaagctg tgtcaggcca ctgtgtcagg tgtcaggctt agcccagaga
      361 gagtgaggtg gaggaggcgg agggtgtaac ccagccaggt cctcttcaca taagctatca
      421 gacaagctcc tcagggcagc agctcctcaa ggccccagga acatggctgt cccctggcta
      481 gtgctactct tggcattgcc catctttttc ctgggggtct ttgtctgggc tgtctttgag
      541 cacttcctca ccacggatat ccctgctacc ttgcagcatc ctgccaagtt gagattcctg
      601 cattgcatat tcctctacct ggtcactttg gggaatatat ttgagaagct gggaatttgc
      661 tccatgccca aatttattcg ttttttacat gatagcgtga gaattaaaaa ggaccctgaa
      721 cttgtggtga ccgacctgcg ttttgggacg atacccgtga ggctgttcca gccgaaggca
      781 gcatcctcca gaccccggcg aggcatcatc ttctaccatg gaggggccac agtatttggg
      841 agcctggatt gttaccatgg cctgtgcaat tatctggccc gggagactga atctgtactt
      901 ctgatgattg ggtaccgcaa gcttcctgac caccattccc ctgccctttt ccaagactgc
      961 atgaatgcct ccattcactt cctgaaggcc ctggaaacct atggggtgga cccctccagg
     1021 gttgtggtct gtggagaaag cgtcggaggt gcagcggtgg ccgccatcac ccaggccttg
     1081 gtgggcagat cagatcttcc ccggatccgg gctcaggttc tgatttatcc agttgtccag
     1141 gcattctgtt tgcagttgcc atcctttcag cagaaccaaa atgtcccatt actttcccgg
     1201 aagttcatgg tgacttctct gtgtaactat ctggccattg acctctcctg gcgtgacgcc
     1261 atcttgaacg gcacttgtgt acccccagac gtctggagga agtacgagaa gtggctcagc
     1321 cctgacaaca tccccaagaa atttaagaac agaggctacc aaccctggtc tcccggccct
     1381 tttaatgaag ctgcctatct agaagccaaa catatgctgg atgtagaaaa ttcacccctg
     1441 atagcagatg atgaggtcat cgctcagctt cctgaggcct tcctggtgag ctgtgagaat
     1501 gacatactcc gtgatgacag cttgctctat aagaagcgct tggaggacca gggggtccgc
     1561 gtgacatggt accacctgta tgatggtttt cacggatcca ttatcttttt tgataagaag
     1621 gctctctctt tcccatgttc cctgaagatt gtgaatgctg tagtcagtta tataaagggc
     1681 atatgatagt aaccctgggg ccccgaggag gaaggggcaa gtatggactc taccagaaac
     1741 cgggtgcttt agtgagttct attttattga ctaaagaggt gctacatcaa tgcttggggc
     1801 agctgggaag ggtgagaagt aagctaacag tcttgcttag tattcaagaa aatccaaact
     1861 gtgtctgttt ccttccagca ctaacaatgt ccattgctgg atctagcgac attctctaac
     1921 attcccattt aggtgaaata aatatcaaaa ggagaaaaaa atgcctttaa aaatttctca
     1981 aagccccaac atataagatc tgtgcagaat aaatgccaac aactggt
//
LOCUS       NM_001013631            1134 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens heterogeneous nuclear ribonucleoprotein C like 1
            (HNRNPCL1), mRNA.
ACCESSION   NM_001013631
VERSION     NM_001013631.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1134)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1134)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC137258.1, BE379349.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2149178 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000317869.7/ ENSP00000365370.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC245034.2.
            On Nov 27, 2019 this sequence version replaced NM_001013631.2.
FEATURES             Location/Qualifiers
     source          1..1134
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..1134
                     /gene="HNRNPCL1"
                     /gene_synonym="HNRPCL1"
                     /note="heterogeneous nuclear ribonucleoprotein C like 1"
                     /db_xref="GeneID:343069"
                     /db_xref="HGNC:HGNC:29295"
     misc_feature    198..200
                     /gene="HNRNPCL1"
                     /gene_synonym="HNRPCL1"
                     /note="upstream in-frame stop codon"
     CDS             222..1103
                     /gene="HNRNPCL1"
                     /gene_synonym="HNRPCL1"
                     /note="hnRNP C-like-1; hnRNP core protein C-like 1"
                     /codon_start=1
                     /product="heterogeneous nuclear ribonucleoprotein C-like 1"
                     /protein_id="NP_001013653.1"
                     /db_xref="CCDS:CCDS30591.1"
                     /db_xref="GeneID:343069"
                     /db_xref="HGNC:HGNC:29295"
                     /translation="MASNVTNKMDPHSMNSRVFIGNLNTLVVKKSDVEAIFSKYGKIAG
                     CSVHKGFAFVQYDKEKNARAAVAGEDGRMIASQVVDINLAAEPKVNRGNAGVKRSAAEM
                     YGSSFDLDYGFQRDYYDGMYSFPARVPPPPPIALAVVPSKRQRLSGNTSRRGKSGFNSK
                     SGKRGSSKSGKLKGDDLQAIKQELTQIKQKVDSLLENLEKIEKEQSKQEVEVKNAKSEE
                     EQSSSSMKKDETHVKMESEGGAEDSAEEGDPLDDDVNEDQGDDQLELIKDDEKEAEEGE
                     DDRDSTNGQDDS"
     misc_feature    630..752
                     /gene="HNRNPCL1"
                     /gene_synonym="HNRPCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (O60812.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    837..1100
                     /gene="HNRNPCL1"
                     /gene_synonym="HNRPCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (O60812.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 ctacaactac aaccagaggt ctaaactaca accagatctg aattcttgtt gggagccatt
       61 ttgtgaagag acgaagactg agctgttttg gctgcatttc tggcctcgag ccgcagtcag
      121 tttctccccg tagaacccgg cagtaggaga cttagaatcg aatctcttct ccctcccgcc
      181 tcctgttttt ggctttttga gaaaccttat catccaacac aatggccagc aacgttacca
      241 acaagatgga tcctcactcc atgaactccc gtgtgttcat tgggaatctc aacactcttg
      301 ttgtcaagaa atcggatgtg gaggcgatct tttccaagta tggcaaaatt gcgggctgct
      361 ctgttcataa gggctttgcc ttcgttcaat atgataagga gaaaaatgcc cgggctgctg
      421 tagcaggaga ggatggcaga atgattgcta gccaggttgt agatattaac ctggctgcgg
      481 agccaaaagt gaaccgagga aacgcaggtg tgaaacgatc agcagcggag atgtacggct
      541 cctcttttga cttggactat ggctttcaac gggattatta tgatggaatg tacagtttcc
      601 cagcacgtgt acctcctcct cctcccattg ctctggctgt agtgccctcg aaacgtcaac
      661 gtctatcagg aaacacctca cgaaggggca aaagtggctt caattctaag agtggaaagc
      721 ggggatcttc caagtctgga aagttgaaag gtgatgacct tcaggccatt aagcaggagt
      781 tgacccagat aaaacagaaa gtggattctc tcctggaaaa cctggaaaaa attgaaaagg
      841 aacagagcaa acaagaggta gaggtgaaaa atgctaagtc agaagaggag cagagcagta
      901 gctccatgaa gaaagatgag actcatgtga agatggagtc tgaggggggt gcagaagact
      961 ctgctgagga gggggaccca ctggatgatg atgttaatga agatcagggg gatgaccagc
     1021 tggagttgat caaggatgat gaaaaagagg ctgaggaagg agaggatgac agagacagca
     1081 ccaatggcca ggatgactct taagcacata gtggggttga gaaatcttat ccca
//
LOCUS       NM_001013635            2283 bp    mRNA    linear   PRI 01-AUG-2023
DEFINITION  Homo sapiens coiled-coil domain containing 184 (CCDC184), mRNA.
ACCESSION   NM_001013635
VERSION     NM_001013635.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2283)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2283)
  AUTHORS   Pensold D and Zimmer G.
  TITLE     Single-Cell Transcriptomics Reveals Regulators of Neuronal Migration
            and Maturation During Brain Development
  JOURNAL   J Exp Neurosci 12, 1179069518760783 (2018)
   PUBMED   29551912
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2283)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: SRR3476690.126215.1, BC036801.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000316554.5/ ENSP00000320849.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB483736.1, BC036801.1 and AK056783.1.
            On May 17, 2019 this sequence version replaced NM_001013635.3.
FEATURES             Location/Qualifiers
     source          1..2283
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.11"
     gene            1..2283
                     /gene="CCDC184"
                     /gene_synonym="C12orf68"
                     /note="coiled-coil domain containing 184"
                     /db_xref="GeneID:387856"
                     /db_xref="HGNC:HGNC:33749"
     misc_feature    117..119
                     /gene="CCDC184"
                     /gene_synonym="C12orf68"
                     /note="upstream in-frame stop codon"
     CDS             480..1064
                     /gene="CCDC184"
                     /gene_synonym="C12orf68"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 184"
                     /protein_id="NP_001013657.3"
                     /db_xref="CCDS:CCDS31785.1"
                     /db_xref="GeneID:387856"
                     /db_xref="HGNC:HGNC:33749"
                     /translation="MEDGLLEIMTKDGGDMPAPLEVSTVPAVGDVISGEYNGGMKELME
                     HLKAQLQALFEDVRAMRGALDEQASHIQVLSDDVCANQRAIVSMCQIMTTAPRQGGLGV
                     VGGKGSFQSDPQEPETPSPGIGDSGLLGRDPEDEEEEEEEKEMPSPATPSSHCERPESP
                     CAGLLGGDGPLVEPLDMPDITLLQLEGEASL"
     misc_feature    780..1007
                     /gene="CCDC184"
                     /gene_synonym="C12orf68"
                     /note="propagated from UniProtKB/Swiss-Prot (Q52MB2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2260..2265
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC184"
                     /gene_synonym="C12orf68"
                     /note="hexamer: AATAAA"
     polyA_site      2283
                     /gene="CCDC184"
                     /gene_synonym="C12orf68"
                     /note="major polyA site"
ORIGIN
        1 accccagctg ctgctgccac actcgcgggc gctgcccggt aatggcctgg gggagtcccg
       61 agtccgacgc gccgctggcc tcagcctgga cgcggacccc tccgcgagcg cgtctgtgac
      121 ccacggaacc ggcaggcgct ctctgcttgt ggcgcccaga gggcggcgct gacacgggcg
      181 cgatccggga ggcgaggcag ggcagggcac tttcgtcccg gggcgatccc aagagacgcc
      241 ggctctggga ccctcgccgg gtcctcgtcc cgcagcctct tctcggcctc ccgcgatcct
      301 gcctgcgccc tctgcccagg actcgtctct cacgtcggct ccccgccagt ctcgggagcc
      361 tccgcttccc tcggctcccg ctagcccctc ccgggacctc tccccctcca ccccctcccc
      421 caccccggag gccgggctgg acgcgaccca gagcctccgc cacccgcttc tgccactcaa
      481 tggaggacgg tctgctggag atcatgacca aggacggcgg cgacatgccg gcgcccctgg
      541 aggtgtccac cgtgccggca gtgggggacg tgatctccgg ggagtacaac ggcggcatga
      601 aggaactgat ggagcacctg aaagcccagc tgcaagccct gtttgaggac gtgagggcca
      661 tgaggggggc cctggacgag caggcctcgc acatccaggt gctctcggac gacgtgtgcg
      721 ccaaccagcg agccatcgtc tccatgtgcc agattatgac cactgcgccc cgccagggcg
      781 gcttgggcgt ggtcggcggc aaggggagct tccagagcga cccccaagag ccggagactc
      841 cttcgcctgg gatcggggac agcggcttgc tgggtcgcga tcccgaggac gaggaggaag
      901 aggaagaaga gaaggagatg cccagccccg ccacaccctc cagtcactgt gagcgccccg
      961 aaagcccctg tgctggtctc cttggggggg acgggccact tgtggagccc ctcgacatgc
     1021 ccgacattac cctgctgcaa ctggagggcg aggcctccct gtgaggggac tccgtggggc
     1081 actaccttcc cgggctgtct ttgggtttcc gagtgcatga cgcgaggggg actgaacggc
     1141 gcggtgcggc atgcttcact tggacagctg ctcttgtggg tcaggcagag agagactccc
     1201 tcgaggaagg atttgtaggg tgaaggactt tgggagcatc gagaattctt tctgcccaac
     1261 taagcgaatt atagcgaact gcggaaaggt gaggctccgg gagaggaagc gcccatctct
     1321 ggactcccat ccatccctat cctgtccttt cccccttccc agacaacagg agaacccgtg
     1381 aattgtgtaa ataaaattct gctttttcta ttctgaaaaa ggacttacct aggaccatgg
     1441 caaataatct ctaacaattt acctggaaat taaggaattg ggggtatttt gttctggcaa
     1501 caggaaattt acccttctgc tgaaatccaa gatattcagt gctctgcaga agcctctccc
     1561 cctcacagat ctctgcggct gctgattggt aaaggaagct tgaggaggga actgcagccc
     1621 taggaatctg ggtgaatggg gttccaaggg cccctgggct gggaggagct ggctatgaat
     1681 gtgcatgaag acataatagc tcaacctcta ggattttgca tgcagagcgg atcctgcctt
     1741 gtcactgact tcatctggga ttgcttttcc actccctggg gcttagagaa caaagagccc
     1801 ggttcacagg cagagactcg ggggtgctca gcagcagccc agatttaggg gacatttgag
     1861 ggactcttgg ggccgcagcc aaaaactgtc tctcctggct acacctgctt aacttcagtt
     1921 cctttttctg tcaatatgtc cttgcccact gcctctcggt gttgccttca taatgtcttg
     1981 tgtgtgttat gtgtgtctac ttgtgtagta gtgtgtgagc cctcaggggc agggcttgtg
     2041 gctctggtgt taggttcagg ggcttcagac ccttctacga gctccaagct atcaatggcg
     2101 cttttctctc cctcttcccc caaccagggc atggagcatg tggctgtcct gaggttcttt
     2161 tactgatgtg ccgcccttcc acctcctcaa gtggtgactt tgtgtgccct ccccctcctt
     2221 tgtgtattcc ttctcaatgc tttccttggt gttaacctta ataaaaaggc gtcatctccc
     2281 ctc
//
LOCUS       NM_001013641            1443 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens transmembrane protein 82 (TMEM82), mRNA.
ACCESSION   NM_001013641
VERSION     NM_001013641.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1443)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279837.5101.1, BC137239.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375782.2/ ENSP00000364938.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC137239.1 and AL450998.19.
            On Nov 23, 2018 this sequence version replaced NM_001013641.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1443
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..1443
                     /gene="TMEM82"
                     /note="transmembrane protein 82"
                     /db_xref="GeneID:388595"
                     /db_xref="HGNC:HGNC:32350"
     misc_feature    2..4
                     /gene="TMEM82"
                     /note="upstream in-frame stop codon"
     CDS             62..1093
                     /gene="TMEM82"
                     /codon_start=1
                     /product="transmembrane protein 82"
                     /protein_id="NP_001013663.1"
                     /db_xref="CCDS:CCDS30608.1"
                     /db_xref="GeneID:388595"
                     /db_xref="HGNC:HGNC:32350"
                     /translation="MFSLPSLPSWLPGLPSLEWGSSLLDSLLQGLIGALGVLVLNSLLK
                     VYFFVGCANDPQRRPEKERLRAQWASLETVHLAGLALFLTVVGSRVAALVVLEFSLRAV
                     STLLSLGKGSQGAAERLQLYLLCQYSLGCGLTCGLSFLQEGAPHRTLNLLLSLGLATLL
                     GLGARRLHRHVCRLYELHSSQRYCGVCLGLLAHAHGLPQLLGRALAIAFAVGDLAAVAL
                     INQDFLTTSEAMRFWTPLTICYTLLVIYMQEEQRQHPGLQSQVQTVLVRMGGLFVLLLT
                     VGRWLDLLGILVSLLGELWCLVGVRTLLDLCQIQDFPSQRPPVSTPSQPLPSAPQSQSS
                     APS"
     misc_feature    149..211
                     /gene="TMEM82"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJX8.2);
                     transmembrane region"
     misc_feature    290..352
                     /gene="TMEM82"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJX8.2);
                     transmembrane region"
     misc_feature    422..484
                     /gene="TMEM82"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJX8.2);
                     transmembrane region"
     misc_feature    494..562
                     /gene="TMEM82"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJX8.2);
                     transmembrane region"
     misc_feature    668..730
                     /gene="TMEM82"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJX8.2);
                     transmembrane region"
     misc_feature    758..817
                     /gene="TMEM82"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJX8.2);
                     transmembrane region"
     misc_feature    848..910
                     /gene="TMEM82"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJX8.2);
                     transmembrane region"
     misc_feature    914..976
                     /gene="TMEM82"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJX8.2);
                     transmembrane region"
     misc_feature    1019..1090
                     /gene="TMEM82"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJX8.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1421..1426
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM82"
                     /note="hexamer: AATAAA"
     polyA_site      1443
                     /gene="TMEM82"
                     /note="major polyA site"
ORIGIN
        1 gtgacgttgg tctgtcctta cgcagacctg gccggaggct ggggctcctt ccggggctgc
       61 catgttctct cttccatccc tcccctcctg gctccccggc ctcccctccc tcgagtgggg
      121 ctctagcctc cttgactccc tcctgcaagg cctgatcggg gcccttggag tcttggtcct
      181 gaacagcctc ctgaaagttt acttcttcgt gggctgtgcc aatgacccgc agcggcgacc
      241 cgaaaaggag cggcttcggg cccagtgggc ctccctggaa acggtgcacc tggcagggct
      301 ggccctgttt ctgacggtcg tggggtcccg ggtggctgcc ctcgtggtgc tcgagttctc
      361 cctccgggcc gtgtccacgc tgctgtccct gggcaagggc tcccagggtg ccgccgagag
      421 gctgcagctc tacctgctgt gccagtactc gctgggctgc gggctgacct gtggcctgag
      481 cttcctgcag gagggcgccc ctcaccgcac gctgaacctg ctgctgagcc tcgggctggc
      541 cacgctgctg ggcctgggtg cccggcgcct ccaccgccac gtctgccgcc tctacgagct
      601 gcacagcagc cagcgctact gtggggtgtg cctgggcctg ctggcccatg cacatggcct
      661 cccccagctg ctgggccgtg ccctggccat agcctttgcc gtgggtgacc tggcagctgt
      721 ggccctcatc aaccaggact tcctgaccac ctcggaggcc atgcggttct ggacaccgct
      781 caccatctgc tacacgctgc tggtcatcta catgcaggag gagcagcggc agcaccccgg
      841 cctgcagagc caggtgcaga cggtgctggt gcgcatgggc ggcctcttcg tgctgctgct
      901 gactgtgggt cgctggctgg acctgctggg catccttgtc tccctactgg gcgagctctg
      961 gtgtctcgtg ggcgtccgca ccctgcttga cctctgccag atacaggatt ttccatccca
     1021 gaggcctcca gtgtcaacac caagccagcc cctgccctcg gcaccccagt cccagagttc
     1081 ggccccctct tgacctgcct cagggaggat ctggagtctg tctcaagccc actagcctga
     1141 tctccgaggc cttgacccca gggcgatgcc tggaggcaga gtggcagagc tggcctcctg
     1201 cccagagctc agcacaggcc ctgggagccc cgagaaggga aggcaggatt tggggatggg
     1261 agcctctgga gaggggacac ctggggaccc ctggttgaac cctctttttc ttggggtggg
     1321 caatgatgca gcctctcaga cctgccttcc tgggcagggg tgggggtgca tcctcaggag
     1381 ggctccccct ttactggtct cccttccctt ctccatgaac aataaagacg atgtctttct
     1441 caa
//
LOCUS       NM_001013642            1961 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens TMF1 regulated nuclear protein 1 (TRNP1), mRNA.
ACCESSION   NM_001013642
VERSION     NM_001013642.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1961)
  AUTHORS   Stahl R, Walcher T, De Juan Romero C, Pilz GA, Cappello S, Irmler M,
            Sanz-Aquela JM, Beckers J, Blum R, Borrell V and Gotz M.
  TITLE     Trnp1 regulates expansion and folding of the mammalian cerebral
            cortex by control of radial glial fate
  JOURNAL   Cell 153 (3), 535-549 (2013)
   PUBMED   23622239
  REMARK    GeneRIF: TRNP1 expression levels exhibit regional differences in the
            cerebral cortex of human fetuses, anticipating radial or tangential
            expansion.
REFERENCE   2  (bases 1 to 1961)
  AUTHORS   Volpe M, Shpungin S, Barbi C, Abrham G, Malovani H, Wides R and Nir
            U.
  TITLE     trnp: A conserved mammalian gene encoding a nuclear protein that
            accelerates cell-cycle progression
  JOURNAL   DNA Cell Biol 25 (6), 331-339 (2006)
   PUBMED   16792503
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC069216.1, ERR279828.1168.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000522111.3/ ENSP00000429216.2
            NMD candidate :: translation inferred from conservation
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356390.24.
            On Nov 22, 2018 this sequence version replaced NM_001013642.2.
            CCDS Note: This CCDS ID represents the protein described in PMID:
            16792503 and is supported by the mRNA BC069216.1. It should be
            noted that this transcript is predicted to undergo
            nonsense-mediated mRNA decay (NMD). However, the protein is
            represented because it was detected endogenously in mouse as shown
            in PMID: 16792503. It is likely that the majority of transcripts
            representing this variant will undergo NMD, while some low level of
            NMD escape may allow for the expression of this protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1961
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..1961
                     /gene="TRNP1"
                     /gene_synonym="C1orf225; TNRP; TRNP"
                     /note="TMF1 regulated nuclear protein 1"
                     /db_xref="GeneID:388610"
                     /db_xref="HGNC:HGNC:34348"
                     /db_xref="MIM:616824"
     misc_feature    24..26
                     /gene="TRNP1"
                     /gene_synonym="C1orf225; TNRP; TRNP"
                     /note="upstream in-frame stop codon"
     CDS             96..779
                     /gene="TRNP1"
                     /gene_synonym="C1orf225; TNRP; TRNP"
                     /codon_start=1
                     /product="TMF-regulated nuclear protein 1"
                     /protein_id="NP_001013664.2"
                     /db_xref="CCDS:CCDS41289.1"
                     /db_xref="GeneID:388610"
                     /db_xref="HGNC:HGNC:34348"
                     /db_xref="MIM:616824"
                     /translation="MPGCRISACGPGAQEGTAEQRSPPPPWDPMPSSQPPPPTPTLTPT
                     PTPGQSPPLPDAAGASAGAAEDQELQRWRQGASGIAGLAGPGGGSGAAAGAGGRALELA
                     EARRRLLEVEGRRRLVSELESRVLQLHRVFLAAELRLAHRAESLSRLSGGVAQAELYLA
                     AHGSRLKKGPRRGRRGRPPALLASALGLGGCVPWGAGRLRRGHGPEPDSPFRRSPPRGP
                     ASPQR"
     misc_feature    96..311
                     /gene="TRNP1"
                     /gene_synonym="C1orf225; TNRP; TRNP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NT89.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    693..776
                     /gene="TRNP1"
                     /gene_synonym="C1orf225; TNRP; TRNP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NT89.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1706..1711
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRNP1"
                     /gene_synonym="C1orf225; TNRP; TRNP"
                     /note="hexamer: AATAAA"
     polyA_site      1731
                     /gene="TRNP1"
                     /gene_synonym="C1orf225; TNRP; TRNP"
                     /note="major polyA site"
     regulatory      1941..1946
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRNP1"
                     /gene_synonym="C1orf225; TNRP; TRNP"
                     /note="hexamer: ATTAAA"
     polyA_site      1961
                     /gene="TRNP1"
                     /gene_synonym="C1orf225; TNRP; TRNP"
ORIGIN
        1 ggggtggggg ctgtggccgt gtctagctgt tcgggtgtgc tgtggtcatc ctccctgcgc
       61 acctacagcc gcagaccgcc ggtggggggc gggggatgcc gggctgccgc atcagcgcct
      121 gcggcccggg ggcccaggag gggacggcag agcagaggtc gccgccgccg ccctgggatc
      181 ccatgccgtc ctctcagccc ccgcccccaa ctccgacctt gactcctacc ccgaccccgg
      241 gtcagtcccc gccgctgccg gacgcagctg gggcttcagc aggcgcggcc gaggaccagg
      301 agctgcagcg ctggcgccag ggcgctagcg ggatcgcggg gctcgccggc cccggagggg
      361 gctctggcgc ggctgcgggg gcggggggcc gcgcgctgga gctggccgaa gcacggcggc
      421 ggctgctgga ggtggagggc cgccggcgcc tggtgtcgga gctggagagc cgcgtgctgc
      481 agctgcaccg cgttttcttg gcggccgagc tgcgcctggc gcaccgcgcg gagagcctga
      541 gccgcctgag cggcggcgtg gcgcaggccg agctctacct ggcggctcac gggtcgcgcc
      601 tcaagaaggg cccgcgccgc ggccgccgcg gccgaccccc cgcgctgctg gcctcggcgc
      661 tgggcctggg cggctgcgtg ccctggggtg ccgggcgact gcggcgcggc cacggccccg
      721 agcccgactc gcccttccgc cgcagcccgc cccgcggccc cgcctccccg cagcgctgac
      781 ctccacgccc ggacccctgg ccaccccgac aagcttcgcc gaggtgccga ccgaccgact
      841 gatcgcggac gccggctgga aggactacgg atccgcagga agaggcagtt gggggccagg
      901 ggcccagtag aggaggctga gctccttcca actcctcaga acctccactc tatggatctg
      961 gacctctgga ttcggctttc tccctgggca ctgccttcag gaagacgttg agaattgacc
     1021 ttacacaatc ccagcgccct cctcacagga gcctttcact ttacagtggc aaggggctgg
     1081 ttctggagaa ctggctgatg ctctgaattt cttcatatac cccacatttg actttggctt
     1141 acactgtaca attggagatg ttgctacagg tccctgagat gcaatcagat taagcgtagc
     1201 aagcattgcc aatgggaaag tcaaaataat ttattttttt tccctttccc cctaccccat
     1261 ccccagccaa gaatttcttt tcaagatatc gtcatcattc ttaaacaaca ttcttaaccc
     1321 ccagctgggg tccccatttt aatagatgtc attgcttcaa gtctaacggc gccgggaggc
     1381 ctgtttgagg gaaaacatta gtttgaaaaa tccccgttcc cttcatccac tgcccttgtt
     1441 ctccacgtgg gagtgtgctt gtggcccctc agaaagatag tctgctggct cctaggggtt
     1501 ggggtggggg acacaccttt ttctcaggaa gaggtgatgg caatgtaaaa catctaagca
     1561 aagttttaaa tgaaaaaaag gaaacacatt taaacatcct gataatggag ggaagggggg
     1621 cacatttaca catagcccag aacttgtaga attctgcata gtgaatgtat attgaattag
     1681 tctcctgcct tatacattca ggaggaataa atttccataa tgtaaggcaa atgcatgggg
     1741 ttctgaggtt cactttgcaa gtgcccttgc tgcctttcct ctgtgtctat tatggctctt
     1801 taagttgacg gttcctggag cagcttgtat ttagtttcgt ttggcagtct ggccctgttg
     1861 actttgattt gcagaccaat tctcccttga cctgactcac agccgcctgc tcttaccccc
     1921 ctcctcagga agtcttcctc attaaaggat gtgatgacgg a
//
LOCUS       NM_001013646             694 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens family with sequence similarity 209 member B (FAM209B),
            mRNA.
ACCESSION   NM_001013646
VERSION     NM_001013646.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 694)
  AUTHORS   Cai DC, Fonteijn H, Guadalupe T, Zwiers M, Wittfeld K, Teumer A,
            Hoogman M, Arias-Vasquez A, Yang Y, Buitelaar J, Fernandez G,
            Brunner HG, van Bokhoven H, Franke B, Hegenscheid K, Homuth G,
            Fisher SE, Grabe HJ, Francks C and Hagoort P.
  TITLE     A genome-wide search for quantitative trait loci affecting the
            cortical surface area and thickness of Heschl's gyrus
  JOURNAL   Genes Brain Behav 13 (7), 675-685 (2014)
   PUBMED   25130324
REFERENCE   2  (bases 1 to 694)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   3  (bases 1 to 694)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   4  (bases 1 to 694)
  AUTHORS   Ficarro S, Chertihin O, Westbrook VA, White F, Jayes F, Kalab P,
            Marto JA, Shabanowitz J, Herr JC, Hunt DF and Visconti PE.
  TITLE     Phosphoproteome analysis of capacitated human sperm. Evidence of
            tyrosine phosphorylation of a kinase-anchoring protein 3 and
            valosin-containing protein/p97 during capacitation
  JOURNAL   J Biol Chem 278 (13), 11579-11589 (2003)
   PUBMED   12509440
REFERENCE   5  (bases 1 to 694)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN,
            Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden
            JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM,
            Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor
            S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh
            VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry
            D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R,
            Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay
            H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce
            CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore
            N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC,
            Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL,
            Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM,
            Bentley DR, Beck S and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BI559921.1, SRR5189667.312356.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371325.1/ ENSP00000360376.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL109806.22, DB452055.1 and DB517586.1.
            On May 17, 2019 this sequence version replaced NM_001013646.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
FEATURES             Location/Qualifiers
     source          1..694
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.31"
     gene            1..694
                     /gene="FAM209B"
                     /gene_synonym="C20orf107; dJ1153D9.4"
                     /note="family with sequence similarity 209 member B"
                     /db_xref="GeneID:388799"
                     /db_xref="HGNC:HGNC:16101"
     CDS             97..612
                     /gene="FAM209B"
                     /gene_synonym="C20orf107; dJ1153D9.4"
                     /note="uncharacterized protein C20orf107; protein FAM209B"
                     /codon_start=1
                     /product="protein FAM209B precursor"
                     /protein_id="NP_001013668.2"
                     /db_xref="CCDS:CCDS33494.1"
                     /db_xref="GeneID:388799"
                     /db_xref="HGNC:HGNC:16101"
                     /translation="MWTLKSSLVLLLCLTCSYAFMFSSLRQKTSEPQGKVPCGEHFRIR
                     QNLPEHTQGWLGSKWLWLLFAVVPFVILQCQRDSEKNKEQSPPGLRGFPFRTPLKKNQN
                     ASLYKDCVFNTLNELEVELLKFVSEVQNLKGAMATGSGSNLKLRRSEMPADPYHVTICK
                     IWGEESSS"
     sig_peptide     97..153
                     /gene="FAM209B"
                     /gene_synonym="C20orf107; dJ1153D9.4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     154..609
                     /gene="FAM209B"
                     /gene_synonym="C20orf107; dJ1153D9.4"
                     /product="Protein FAM209B. /id=PRO_0000236040"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JX69.1)"
     misc_feature    253..315
                     /gene="FAM209B"
                     /gene_synonym="C20orf107; dJ1153D9.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JX69.1);
                     transmembrane region"
ORIGIN
        1 gacatcacca agggcctggc accaggtgcc cagtcttcca gttgcgaggg caagcaaacc
       61 cgtcatgagc aactcccttc cccatctctg ctcaccatgt ggacgctgaa atcgtccctg
      121 gtcctgcttc tgtgcctcac ctgcagctat gcctttatgt tctcttctct gagacagaaa
      181 actagcgaac cccaggggaa ggtgccgtgt ggagagcact ttcggattcg gcagaaccta
      241 ccagagcaca cccaaggctg gcttgggagc aaatggctct ggcttttgtt tgctgttgtg
      301 ccgtttgtga tactgcagtg tcaaagagac agtgagaaga ataaggagca gagtcctcct
      361 ggccttcgag gcttcccatt tcgcactcca ctaaagaaaa atcaaaatgc ttctctttac
      421 aaagactgtg tattcaatac cttaaacgaa cttgaagtgg agcttttgaa atttgtgtcc
      481 gaagtgcaga atcttaaagg tgccatggca acaggcagtg gcagtaacct caagcttcga
      541 aggtcagaga tgcctgcaga tccataccat gtcacaatct gtaaaatatg gggagaagaa
      601 agctctagct gaatggattt gtgtgtcagg agagaaaaaa gttgagtgtt gacaaactgt
      661 atgcaaacta ataaaactat tctgaagaaa agaa
//
LOCUS       NM_001013647           10087 bp    mRNA    linear   PRI 29-OCT-2022
DEFINITION  Homo sapiens family with sequence similarity 227 member A (FAM227A),
            transcript variant 1, mRNA.
ACCESSION   NM_001013647
VERSION     NM_001013647.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10087)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP,
            Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird
            CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien
            KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000535113.7/ ENSP00000445093.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA378202.1, DB053353.1, AK301819.1, DV080205.1 and AL022320.23.
            On Jun 2, 2019 this sequence version replaced NM_001013647.1.
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the longer isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..10087
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     gene            1..10087
                     /gene="FAM227A"
                     /note="family with sequence similarity 227 member A"
                     /db_xref="GeneID:646851"
                     /db_xref="HGNC:HGNC:44197"
     misc_feature    323..325
                     /gene="FAM227A"
                     /note="upstream in-frame stop codon"
     CDS             368..2080
                     /gene="FAM227A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Protein FAM227A"
                     /codon_start=1
                     /product="protein FAM227A isoform 1"
                     /protein_id="NP_001013669.1"
                     /db_xref="CCDS:CCDS93164.1"
                     /db_xref="GeneID:646851"
                     /db_xref="HGNC:HGNC:44197"
                     /translation="MNHFRKMEVINLTTLPMIPVDEHLAVSLVARNTMVKTVRKELENN
                     PPSCLIGSMHQVNQKIADINLRTEPSANSLAIERFELEKKALREKTRSSPEDKVKRQRK
                     SQYSCKGSELRHARSSVIKRKTADKNLLAELYQYSNFNSSKPNKLPNGVDFCDMVGNVV
                     RAERDCLSGKHFCSGRELEKFLSSSSPRAIWLDSFWWIFHERYQPNKELQNNLFDRIAQ
                     HYALLLFRVPKSHSEEALLKRLPSLLSKAVYTSFCCCFPQSWFDTHEFKSDICNTMSLW
                     ISGTYPSPQSYDSWDYSELDPERFRREELMLYRRRLTKGREFSLFAGKRAFSQKPAQSR
                     KFYHPQSSSANSPSEKTSSAKQNSEKSLRMQNTAKEHHCQTLVLKKPTQEVKRISEARE
                     CENMFPKKSCAACKSPELTSNLFNIYGKSPLIVYFLQNYASLQQHGKNVLIVRREKTTS
                     TPDCTPTYTDVISETLCSMKKRKDNLNQLYQHHWTEWNYFDKHLKELQDNFSREMKNID
                     PKAADTKKANHMFIPPSAVNEESPDKKTKEGKGGEGKRRETEVEHFFPLTSKP"
     misc_feature    626..703
                     /gene="FAM227A"
                     /note="propagated from UniProtKB/Swiss-Prot (F5H4B4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1373..1489
                     /gene="FAM227A"
                     /note="propagated from UniProtKB/Swiss-Prot (F5H4B4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1394..1396
                     /gene="FAM227A"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (F5H4B4.1); phosphorylation site"
     misc_feature    1409..1411
                     /gene="FAM227A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (F5H4B4.1); phosphorylation site"
     misc_feature    1412..1414
                     /gene="FAM227A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (F5H4B4.1); phosphorylation site"
     misc_feature    1922..2077
                     /gene="FAM227A"
                     /note="propagated from UniProtKB/Swiss-Prot (F5H4B4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      6016..6021
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM227A"
                     /note="hexamer: AATAAA"
     polyA_site      6036
                     /gene="FAM227A"
                     /note="major polyA site"
     regulatory      8651..8656
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM227A"
                     /note="hexamer: ATTAAA"
     polyA_site      8680
                     /gene="FAM227A"
     regulatory      10065..10070
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM227A"
                     /note="hexamer: AATAAA"
     polyA_site      10087
                     /gene="FAM227A"
ORIGIN
        1 gacaacgcgg cggctcacga aggttccatt gttatgctaa acgggaaagt ggagaccgcg
       61 ccggcgttgc ctagagaacg cctggactca gagtagcaaa atgggcctct ccccaactcc
      121 cctcctcatc ccccagcaca aggcaaaggg caccccttgc tgtgagtttg ggggcaccgg
      181 ctgtcggggg ccgacccaga actttgcggg gtcccctgag ggacccgtgg cgggaccggc
      241 cccgggttcg tcaaattccg ccgatgcttt caggaggctg attaaacaaa cgacaagatt
      301 ggagtgggaa atgagaggct cttaaaagtg gaagcttttt gtttgtccat ttacaagaaa
      361 ttggacaatg aatcacttca ggaagatgga ggtcatcaac ctcaccaccc tacctatgat
      421 accagtggat gagcacctgg ctgtctcgct tgtcgcacgg aatacaatgg tgaagactgt
      481 gaggaaggag ttagagaaca atccaccctc atgccttatt ggctccatgc accaggtgaa
      541 ccaaaagatt gctgacataa atctgcgtac cgagccgtcg gccaacagcc tggcaattga
      601 gagatttgag ttggagaaga aggctttaag agagaaaact cgcagcagtc cagaagacaa
      661 agtcaagaga caaaggaaat ctcagtattc ctgcaaaggc tccgaactca gacatgccag
      721 atcttctgtt ataaaaagga aaacagcaga taaaaatctg ctggcagagc tgtaccagta
      781 ttccaacttc aacagctcca agccaaacaa gcttccgaat ggcgtggact tctgtgacat
      841 ggtgggcaac gtggtccggg ctgagagaga ctgccttagt ggcaagcatt tctgttcagg
      901 tagagaatta gagaagtttc tctcttcttc ttctccaaga gccatctggc tggatagctt
      961 ttggtggata tttcatgaga ggtaccagcc aaacaaggag ctccagaata atctgtttga
     1021 ccggatagcc cagcactatg ccttactttt gtttcgtgta cccaagtccc actctgaaga
     1081 ggcgctctta aaaaggctgc catcacttct cagcaaagcc gtgtacacca gcttctgttg
     1141 ctgctttcca cagtcctggt tcgacacgca cgaattcaag tctgacatct gtaacacaat
     1201 gagcctgtgg atttcaggca cctatcctag cccacagagc tatgacagct gggactactc
     1261 ggaactagac ccagagcgat tccgcagaga agaattaatg ttgtacagaa gaagactgac
     1321 aaaggggaga gagttttctt tgtttgctgg taagagagcc ttctcccaga agccagccca
     1381 gagcaggaaa ttctaccacc ctcagtcttc tagtgcaaat tcacccagtg aaaaaacctc
     1441 ttcggccaag cagaactcag aaaaaagctt acgaatgcag aatactgcaa aagagcatca
     1501 ttgtcagacc ctggtcttga agaaacctac gcaagaagtc aagaggatat cagaagcaag
     1561 agaatgtgag aatatgtttc ctaaaaagtc gtgtgctgcc tgcaaaagcc ctgagctgac
     1621 ttcaaacctc ttcaacattt atgggaagag ccctctgatt gtgtactttc tccagaacta
     1681 tgccagtctg cagcagcacg gcaagaatgt gttgatagtc agaagggaaa agaccacgag
     1741 cacccctgac tgcaccccaa cgtatactga tgtcatcagc gagaccctgt gcagcatgaa
     1801 gaagcggaaa gacaacctca atcagttgta ccagcatcat tggactgaat ggaattattt
     1861 tgacaagcat ctaaaggagc tgcaagacaa cttctccagg gaaatgaaga atattgatcc
     1921 aaaagcagca gatacaaaaa aggcaaacca catgttcatc ccaccttcag ccgtcaatga
     1981 ggaatcacct gacaagaaaa ctaaggaggg gaaaggagga gagggaaaga gaagagaaac
     2041 agaagttgaa catttctttc cactcacttc caagccctga ggagctccac aacctagaac
     2101 caggaagcgc ctacagaatc cgtgatattt ctgctacgag gtggagtgga acaagaaaat
     2161 aagaaaattg tggccaaaga cagaaatagg aatcatgatt tctccatagg ggaaggattc
     2221 cgttgtagtt tttcctaggc tgagtgaaaa gcaggagtag agagttggtg cttgggtcac
     2281 tacatttatt catagattta ctctttcagt attttattac gtgcatgctg gtaagtatgt
     2341 tacaaatatg acctcataca aaggtaaaac tttcatacca gccgtatgaa gtagggatta
     2401 tccactgcat tttacgcagc agcaagccca ggtttagaaa ggtttccgaa gttctctgct
     2461 gtagacactg ggtaattaac agtagataag acacagtccc tgttctcaag ggagtcacca
     2521 tctggtagag ggaagacaga tgtatcaaca cattaaatgc tgtaagtatt ggacagagga
     2581 aaaagagaaa agtgttgtga gggaaaagga aaatgggcct agaggagtgc aattttttgt
     2641 aacaagcttt gtggaactat taatttgata atttgatagg cgcttctatt atgctgcctc
     2701 tgaacctttg cctcctgctc ctctaaccac tgggattgcc agcctatttc caatatgccc
     2761 tctttctgcc tggcaaacat cttgtctttt ctaaactcag cccagggaca tgacatctgt
     2821 aatgtgtttc tgtgtgactc ccaggcttct gccttcttaa cctctcacct tccagctcat
     2881 ttgagtgaat ctttgtccaa gaattgagag aaactttata ggtaaagcat gcacatgttg
     2941 tctgatttaa tctaaaatag aaataagaaa acaaaaaata atactgcaac tagggacaca
     3001 tttagtcact cccagttcat gagacaagga atagtaaagt tcattcctac catagcaaaa
     3061 gtcaggattt aaatgtaaat taattttttt aattaaaaaa ttttaaatta ggccaggcgt
     3121 ggtggctcac acctgtaatc ccagcacttt gggaggctga agtgggcaga tcacgaggtc
     3181 aggagttcga gaccatcctg gccaacatgg tgaaacccca tctctactaa aaatacaaaa
     3241 attagctgga tgttgtggcg ggcacctgta atcccagcta ctcgggaggc tgaggcagaa
     3301 gaatcgttgg aacccaggtg gcggaggttg cagtgagcca agaccatgct attgcactcc
     3361 agcctgggca acaagagcga aactctgtct caaaaaaaaa ttttttttaa ttaattttaa
     3421 ctaaattaaa ttttttagag gcagactctc agtctgttgt ccaggctgga atgcagtggc
     3481 gcagtcatag ctcactgcaa cctcaaattc ctgggctgaa gcaatcctcc cacctcagcc
     3541 tcccaagtag ctaggactac aggtatgcca ccatgtctgg ctaattttta aagaaatttt
     3601 tttgtagaga tgggatctca ctgtgttgcc caggctggtc tcgaactcct ggcttcaagt
     3661 aatcctcctg ccttgtcctt ccaaagcact gggattctaa gtgtgagcca ccacacctgg
     3721 cctggagtat ctaatattgt ataacataat aatagtaatc ataggtgatg tcatttattg
     3781 agtacttagt atgtgctgag tgctctgcta agtctggttt agacattatc tcagttaacc
     3841 ttcctggtgt cccccaagat ggatattgtt acctccattt tctcctagga agaaacggac
     3901 ttggggggga tgattaggta tttgctagat gtctattctg taccatccct gcactaggcc
     3961 ctgtgaatac agagataaat aaagacacag tccctgacct tatggggctc acaatctgga
     4021 aaaaagagaa ggatgtgtaa accaataaat gcattaatgc tccgatagaa agctgcgtgg
     4081 aatctgagaa aaaccaaggc agatgaagcc agtgtgccag cagccctttg ggacagaaga
     4141 tatttcactg aggggcacag gcacaggggt tggtttgcca aaggaccagc agctgggctg
     4201 aagggcatag gttttatcat ttgagcttca aggcacaagg cagtgacctg gtctgtgcta
     4261 gaacagttca cctgtcacag ccaagaggaa agaaatggtg cagatggctg tttgcccaaa
     4321 ccaagcagca gataagcaga tcttgggaaa tgtagctcat ccctcagaca cacatcttta
     4381 cttgaatcct gagtagaact ctaggtgacc cccttggagg ctattactca tgtaaaaggg
     4441 gatgaaggaa aggtaagaga gaaggagctt aggctttggc atgagaaaat ttgggccttt
     4501 gaatccctgc cctgcttcac catatggatg tgtgactcag catagtagct gtgcatcttg
     4561 acctttctga acgtgctttc ttgactgcag aaagggaatg cctgcctagg agggttgttg
     4621 tgaggattag atgagataat ttgtgcaaag ttcttggcac agtacttttc actttgtaat
     4681 tgccacaagc tgttattgtt gttattgctg ttataaagtg tactcttctt ggccgggtgc
     4741 agtggctcat gcctgtaatc ccagcacttt gggaggccaa ggcaggtgga tcgcctgagg
     4801 tcaggagttt gagaccagcc tggccaacgt ggcgaaactc catctctact aaaaatacaa
     4861 aaaaattagc cgggcacaat ggcaggtgcc tgtaacctca gctactcagg aggctgaggc
     4921 aggagaatca cttgaacccg ggaggtggag gatgcagtga gctgagattg caccattgca
     4981 ctccagcctg ggtaacaaga gtgaaactcc atctcaaaaa aaaaaaaaaa aaagtatagt
     5041 cttctgaaac cagaacgtgt gagcacctgc cgagtacaag gcaccatgtg gggcagataa
     5101 gcagaacact ctctcacctt ccctttacta ccccagccac tgtcaactct tcatttgcag
     5161 tttctctagg aaccacactt tcctatttct ggatcttttg tctgttgctg cttctggacc
     5221 tgaaaatgcc ttctcctccc tcctctttgt taactgccaa catcactaat tcctgctctt
     5281 cctccaggac cccgcttaga cgtccctcat cttgggagcc ttccctaata taccaggagc
     5341 aaggtaggca caagtgctcc actgcattat gctccaacag cattctgtgc catcccatta
     5401 tggcagcagt taccatagta gattggaatt gcctgtctac ctatccaccg ctactattag
     5461 cccccataca gcaagaaggt ctccttattt tctaagccca ggacaaactg catttctgtc
     5521 tgtcaggacc atttgttgca cagtccaaga tcatccctgc atggaccctt tccagaaatg
     5581 actgaggact cagagttgta gcctctcagg atgttaaata tgaagaaacc tgtctctgcc
     5641 ctttgtaaac attagaaggg aaaattatgg ggaagaatta tttgcccttt ataagggaag
     5701 cggggtagag catcaaaggg aactaacatt taaaaagcat ttgctgtaat gtgggataaa
     5761 gcaaatgagt aattgtatga tattctaatt ctgtcattcc cagtgttgct gaaaacccat
     5821 actctcagca tggaagaaga taaattcaga tgttaaacta gaagagatga agttaaaatc
     5881 ctatagtcct gattttgaat tgcttatgaa ttgatgatga aatgtatgtt ttagaacata
     5941 cagtttcctg aagaacagga gggatagctg gagaggggat aggagggaag ctggaagggg
     6001 ttacaaagag gcccaaataa acttttgggg gtgacagata tgtctactat cttgattgtg
     6061 gtgaatggct catgggtgta tacacaccta aatacacttt aaatgtgtgc agtttctcat
     6121 atgtcaatta tacttcgata aagctttgtt aaaaaacgaa caggccaggc atggtggctc
     6181 acacctgtaa tcccagcact ttggaaggcc aaggcaagag gattgcttga ggccaggagt
     6241 ttgagaccaa acaggacaac atagtgagac cttgcctcta caaaaacata aaaaattagt
     6301 ccgatgtggt agtgcatacc tatagtccta gctactaggg aggctgaggt gggaggatcg
     6361 cttgagcctg ggagcttaag gctgccatga gctgtgattg tgctactaga ctcagcctgg
     6421 atgatagagc aagactgtgt ctgggaaaaa aaaaaaaaaa aacctgagcc aggtgcggtg
     6481 gctaacgcct gtaatctcag cactttggga ggccgaggcg ggtggattgc ctgagaccag
     6541 tagtttgaga ccagcctgac caacatggcg aaatcctgtc tctactcaaa atgcaaaatt
     6601 agccgggtgt ggtggcagct gcctgtagtc ccgggtactc gcaaggctga ggcaggagaa
     6661 ttgcttgaac ccaggaagcg gaggttacag tgagccaaga tcatgccact gcactccagc
     6721 ctggacaaca cagtgagact ctgtctcaaa aatatgtgta tatatttcct aaaactctgt
     6781 ccactgaaat gacctagaaa taaagactga cccggcagca gtgacccaga ctgtggtctt
     6841 gaaatactat ttgccctaaa aggatctagg gatccttgaa gaaatgatca gttccaggtc
     6901 tagggcagga aaatcatgag acctgaaaca tcttatcaca cttaacacca aggaagctat
     6961 caaagacaag gatcctgtca gaaagacttg ggagcaaact tagagacaat cccattagct
     7021 aaaagagagg accatttggg cattaataat aattgccata tttgaagcac gtcaaacgtg
     7081 ttctcacctg taagttcata ttgtgacttt taaaaaacgg attggtgtct ggacgcggtg
     7141 gctcacgcct gtaatcccag cactttggga ggccgaggtg ggcagatcac ctgaggtcag
     7201 gagtttgaga ccagcctggc caacaaggca aaatcccgtc tctactaaaa atacaaaaat
     7261 cagccaggcg tggtggtgca tgcctggaat cctagctatt cgggaggccg agacacaaga
     7321 atcacttgaa cttgggaggc ggaggttaca gtgagctgag atcgcaccac tgcactccag
     7381 cctaggtgat ggagtgagac tgtctcaaag ataaaaaagg aaaggggaaa ggaggaaact
     7441 aattggatac taggaaactt cctcattatt ttgaaaattg gtaagtaaat gaataagcat
     7501 ttatcatgcc attcccatat gaactgtatt accaggtaac caaatagtag tggaacagaa
     7561 acttgtcttt agaaacaatc cacctaataa attcagaaat aatgatagac ttaaaatatc
     7621 accattttga aacccctaat gaattaatgg atctaggttg attatccatg gctgcttaca
     7681 tcacaaaaga caaacagcta ttaaatgcct tttgatacta gaccataaga ccacctatca
     7741 aatagtctta caaataagta aacttgaatg tgatctgaac tctagatcca accaccataa
     7801 caggaaatac agaggatggg gacatcatgg caaatggtaa atgacaccta ggggatgcaa
     7861 tcagcaaaat ccaggccatg gaaaactcca gggcaaatga cttcattttt ttcaacaaat
     7921 aagtttcaag ggaaaaagag agggggaata tatagattaa aagagactta aaagaggaca
     7981 tcggttgccg agcatggtgg cccatgcctg taatcccagc actttaggag gccaaggtgg
     8041 aagaacccct agagcccagg aggtgagacc aaaccgggta acatagtgag accttgtctc
     8101 tacaaaaaaa gtaaaaatta gcagagcaag gtggcatacg cctgtagtcc tagctacttg
     8161 ggaggctgac gtgggagaat tgcttaagcc tgggagttgg agggtgcagt gagctatgat
     8221 catgccactg cacactccag cctaggtgac agaatgagac cacatctcta aaaagaaaaa
     8281 aaaaagacat caatcaatta caacatgtgg acattatttg gatcccattg aaacaaaatg
     8341 tggcatttat gagacaaatg gatatctgaa tcttaaatat tttatatata aaattattct
     8401 aggcgtgata atagcattat ggttatattt tttaaagagt tatcacattt tagagatata
     8461 tactgaaata ttcacagatg gaattacaag atttatggaa tttgtactca aataatatgg
     8521 gagagagaaa gtggatggag gtataggtga aacaagattg accatgtgtt gaaaattgtt
     8581 gaagatgggt gatgggaata ttatactgtt ttacttttgt gcatatttga ttttagccat
     8641 aatttttaaa attaaaggca tctaccatgg acacttctaa gcatatttta cacactttca
     8701 ttgtggtctc actaaagccc tgtgaatgag gtacaatttc ccccattttc aaattgaggc
     8761 tcttcttgtt taaagcacca ttactcctgg cttgggactt ctgttataca atattctcct
     8821 agcattctct ttgccctttc tcttgcccct ccaatcagtt ctccacacag gagcccacat
     8881 acttcatgtg tattaaccca tttaattctc acaactcagc gccgatatta ttcttggttt
     8941 tcagataccg aaactcaggc acagagaggt taaataattt tcccaagacc acacagctag
     9001 tgaatggctg aagtgtgctc tatgtctggc ttagttgctg ctcctatgtg tacttatgac
     9061 aggaaaataa agtcaagata tgaatataca agcctgccat atagtggttt agcatgtcag
     9121 ttaagagcat ggtcactgga gccagactgt gagcctcagg caagttactt aacctcctgg
     9181 tgccccagtt ccatcgtgta aataggggtg ataattgttg tgcctcatgg tgtctgtgtg
     9241 aggagtggat gcatgaatct gtgggaggca cttagaacag tgcctgacac atggtaagtg
     9301 cagcatgtac tggctatcat gatcattatt gggtgttcaa caaatactcg ttccttttgg
     9361 cctctctcct ttaattttga aattaaaatc ctccaccaga accacttgca gttccccaaa
     9421 taagcctctg tgttccttct gcctttcccg ccctgcccga ttgacaaatc ctcactgatc
     9481 cagccccaag ctaagggcca ccatccccgc aaccccagag agagcctctg cttggttccc
     9541 agctgcatgt ctaatccctc tcatcctgcc ttgtgtggtg attatctctt tctgcattgt
     9601 cttctctact agactcatgg ctccttgagg gcaggtacct acctgtcttt atatccagca
     9661 gagacgtgga attgagcagt gttgaataaa tgctagtaaa ataaactgtc atagcaagcc
     9721 tctcttggac acctatgtgc tgaagttaaa aagtttttca aatttggact gaaaaaatga
     9781 gaaagcccaa aatgactatt aaatatacat gtatgtgtgt gtatacatac acacagtcat
     9841 gcaccacgta acgatgtttc agtcagcagc tgactgaata tatgacggtg gtcccataag
     9901 attataatgg aactaaacaa ttcctatcac ctagcgactc ttagccttcg taatgtcata
     9961 gcgtaacgca ttagtcacgt gtttgtggtg atgttggtgt gaacaaatgt actgtgttgc
    10021 ctgccagtca tataaaatat agtacacaat actggggtaa tggtaataaa tgactgttac
    10081 tggttta
//
LOCUS       NM_001013649            4274 bp    mRNA    linear   PRI 08-JUL-2023
DEFINITION  Homo sapiens chromosome 2 open reading frame 68 (C2orf68), mRNA.
ACCESSION   NM_001013649
VERSION     NM_001013649.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4274)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (bases 1 to 4274)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 4274)
  AUTHORS   Lv Z, He K, Shi L, Shi K, Jiang T and Chen Y.
  TITLE     Interaction between C2ORF68 and HuR in human colorectal cancer
  JOURNAL   Oncol Rep 41 (3), 1918-1928 (2019)
   PUBMED   30664176
  REMARK    GeneRIF: Study suggested that c2orf68 is a potential carcinogenesis
            factor in colorectal cancer (CRC). Furthermore, c2orf68 may have a
            synergistic effect with HuR in the onset and development of CRC.
REFERENCE   4  (bases 1 to 4274)
  AUTHORS   Chen Y, Jiang T, Shi L and He K.
  TITLE     hcrcn81 promotes cell proliferation through Wnt signaling pathway in
            colorectal cancer
  JOURNAL   Med Oncol 33 (1), 3 (2016)
   PUBMED   26607374
  REMARK    GeneRIF: hcrcn81 might promote carcinogenesis and progression
            through regulation of the Wnt/beta-catenin signaling pathway and
            plays an important role in the carcinogenesis of colorectal cancer.
REFERENCE   5  (bases 1 to 4274)
  AUTHORS   Wen X, Zhu J, Dong L and Chen Y.
  TITLE     The role of c2orf68 and PI3K/Akt/mTOR pathway in human colorectal
            cancer
  JOURNAL   Med Oncol 31 (8), 92 (2014)
   PUBMED   25023051
  REMARK    GeneRIF: c2orf68 expression correlates with the pathogenesis of
            colorectal cancer through PI3K/Akt/mTOR pathway.
REFERENCE   6  (bases 1 to 4274)
  AUTHORS   Wen X, Dong L, Zhu J and Chen Y.
  TITLE     Hcrcn81 is upregulated by rapamycin treatment in human colorectal
            adenocarcinoma cells
  JOURNAL   Mol Med Rep 7 (4), 1257-1260 (2013)
   PUBMED   23404111
  REMARK    GeneRIF: Observations of the current study indicate that hcrcn81 may
            play a role in tumorigenesis by regulating the mTOR signaling
            pathway.
REFERENCE   7  (bases 1 to 4274)
  AUTHORS   Jiang Q, Zhang C and Chen Y.
  TITLE     NM_001013649.3 gene is down-regulated in human colorectal
            adenocarcinoma
  JOURNAL   Mol Med Rep 4 (6), 1279-1281 (2011)
   PUBMED   21874238
  REMARK    GeneRIF: The mRNA levels of NM_001013649.3 are significantly
            down-regulated in colorectal adenocarcinoma tissue, and this
            down-regulation is most likely correlated with the differentiation
            status of the cancer.
REFERENCE   8  (bases 1 to 4274)
  AUTHORS   Kashima I, Jonas S, Jayachandran U, Buchwald G, Conti E, Lupas AN
            and Izaurralde E.
  TITLE     SMG6 interacts with the exon junction complex via two conserved
            EJC-binding motifs (EBMs) required for nonsense-mediated mRNA decay
  JOURNAL   Genes Dev 24 (21), 2440-2450 (2010)
   PUBMED   20930030
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC111483.1, SRR1163657.207023.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142853,
            SAMEA2151358 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000306336.6/ ENSP00000304410.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012454.8, CN303296.1, BC111483.1, AC016753.9 and BU619982.1.
            On Nov 22, 2018 this sequence version replaced NM_001013649.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4274
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..4274
                     /gene="C2orf68"
                     /gene_synonym="HCRCN81"
                     /note="chromosome 2 open reading frame 68"
                     /db_xref="GeneID:388969"
                     /db_xref="HGNC:HGNC:34353"
                     /db_xref="MIM:618519"
     CDS             83..583
                     /gene="C2orf68"
                     /gene_synonym="HCRCN81"
                     /codon_start=1
                     /product="UPF0561 protein C2orf68"
                     /protein_id="NP_001013671.2"
                     /db_xref="CCDS:CCDS42704.1"
                     /db_xref="GeneID:388969"
                     /db_xref="HGNC:HGNC:34353"
                     /db_xref="MIM:618519"
                     /translation="MEAGPHPRPGHCCKPGGRLDMNHGFVHHIRRNQIARDDYDKKVKQ
                     AAKEKVRRRHTPAPTRPRKPDLQVYLPRHRDVSAHPRNPDYEESGESSSSGGSELEPSG
                     HQLFCLEYEADSGEVTSVIVYQGDDPGKVSEKVSAHTPLDPPMREALKLRIQEEIAKRQ
                     SQH"
     misc_feature    176..403
                     /gene="C2orf68"
                     /gene_synonym="HCRCN81"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2NKX9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2852..2857
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2orf68"
                     /gene_synonym="HCRCN81"
                     /note="hexamer: ATTAAA"
     polyA_site      2874
                     /gene="C2orf68"
                     /gene_synonym="HCRCN81"
                     /note="major polyA site"
     regulatory      4251..4256
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2orf68"
                     /gene_synonym="HCRCN81"
                     /note="hexamer: AATAAA"
     polyA_site      4274
                     /gene="C2orf68"
                     /gene_synonym="HCRCN81"
ORIGIN
        1 aaggggcggc gcggagctct gtgggcgggt ggctgttgtt ggggccgtcg aggcggcggc
       61 gactctgcgt ccccggctcc tgatggaggc ggggccgcat ccccggccgg ggcactgctg
      121 caagcctggg gggcggctgg acatgaacca cggcttcgtg caccatatcc gacggaacca
      181 gatcgctcgg gacgactatg acaagaaggt gaagcaggcg gccaaggaga aggtgaggag
      241 gcggcacacg cccgcgccga cgcggccccg caagccagac ctgcaggtgt acctgccgcg
      301 acaccgagat gtctctgccc acccacgcaa cccagactat gaagagtccg gtgaaagcag
      361 cagtagtgga ggctctgagc tggagccttc tggccatcag ctcttctgct tagaatacga
      421 ggcagacagt ggagaggtca catcagttat cgtctatcag ggtgatgacc caggaaaggt
      481 gagtgagaag gtgtcggcac acacgcctct ggatccaccc atgcgagaag ccctcaagtt
      541 gcgtatccag gaggagattg caaagcgcca gagccaacac tgaccatgtt gaaggcgttc
      601 tctccaggct ggattcactg cactcggaag aattctgccc agggaattta gtgtgggggt
      661 accaggacca gtttgtctga tcttgagacc cccagagctg ctgcatccat agggtgttgc
      721 aggactacac ctggcctgcc ttgcagtcat tctttcttat atgttgaccc atttgcccag
      781 cctgatattc tggaattctt tttttttttt tttttttttt ttttttgagg attttgtgtg
      841 gctaatgtgt tctagaagca gagactccag ggagaaccag aatttatgaa gcctcgtgca
      901 acatggtgct ttctcaccga ggtcatatgc ctggctgctg ctgttccact cagctccatg
      961 agccacgttt gttattttat gtttcttctg tgcttttgct catttccacc catgtgttta
     1021 tagacctttt ttcagccctt tttctttgtt cctttccctc atctttttgc ctcaggtaga
     1081 atccatcagt tttcctcccc ctccaaatga ctgtgtacct ccagctgctc aggactttgg
     1141 aggtgggggc ggggcctggg gatctaccct tctaaaaaac tctccaagta attctgatac
     1201 caataaagtg ggagacctcc atttttgagg cctatttgca agcatgtctc cctccctttc
     1261 catggctttt tcgtttctcg catgttccac tgctttgcac tgtctagaca ggaaacctag
     1321 gaagatgttg gtgctaaact gaaaagattt cttacagcaa aacctgcctc ggccagggct
     1381 acagaattcc aactttcaac ttgattccta gccgtgaaca gactgtcctc tgctcagact
     1441 aaaagggaat tataaacaag tgggaactta ctctccagtt gtgacttaac agttctgaac
     1501 atacctacaa agggaaagtc aatattagca ataattgcct gattgacagc acgccagagg
     1561 gaatgaaatg aggccttctc tcctacctcc caggagtatg taactcagat ccttagcata
     1621 aagatcccca ggaataccac tgctctaacc cggtgaacat tttttctaat gcagggttag
     1681 gcttacgtct gaattccaca agacatcctc cccctccagt acggaagttc caaggcactt
     1741 gttttccagc atatcagcct aacctcagtg ccttgaaata tggctttaag cctttgagaa
     1801 ctgagatttc ctgaaaccat aggcccttgc cccaggggtt tctccacatc cgggtgttaa
     1861 gacacctgat ggcactgttg gtttgtcccc tataccccag aaaatctatc ctgcaaggta
     1921 gctacttcaa tcttgtcatt aaaatgtgtc aagtcacagc tcgcaatgcc aaaggaatgc
     1981 tggggcagta agtgaggtgg ataagtgaga agggcctggt ggtgaaagcg gccagggacc
     2041 agaatgctcc agacctacag agctggtcaa ggttaagtgc cttaaactta ccaatcctgg
     2101 gctcagttct cctttgaaag gagaaagtct ttgtcctcta cttaggcagc tgggctagaa
     2161 gtgccttttg acttctaatg ttaactaccc tccaaagcct cctgggtcaa gaaggctctc
     2221 ccaaactcca cccctgttct tcctggtcag agaaccagtc agtcattcta gtcttctagt
     2281 ccttaaactg atctgatgac ttggaacata ggatttcact gcaagtctgg ctttttagtc
     2341 tggaaataca tttgaggtct gttttcgcac agctggatca cctgtttcct ggttttatta
     2401 cacaattcag aaggctagaa gaggagtttg ggggcttggc acctgaaaat ttagaccgca
     2461 ttcttattaa gtaaaggaag aggtagggag gccgaggcgg gcggatcatg aaatcaggag
     2521 atccagaccg tcctggctaa cacagaaacc ccgtctctac taaaaataca aaaaattagc
     2581 tgggcatggt gacatgtgcc tgtagtccat cccagctact cgggaggccg aggcaagaga
     2641 atcacctaaa cctggaaggc ggaggttgca gtgagccgag atcacaccac tgcacttcag
     2701 gctgggcagc agagcgagac tccatctcaa aaaaaaaaaa aaaaggaaga ggtaaaaggc
     2761 aaggcagcat ttaataagta cctgttgtat ccttttaagt gtttgttgtg gtaatcctca
     2821 caaagaccgg gactgatgga aactccttgc tattaaactt tttttcttga ggaattttgc
     2881 ttttcaagtg catatacact attaatattt tttacccaag agagcattct aagctaattt
     2941 atgcagtgtg actgtattaa gcattaagct tccttcagag ctggcctatc ggagatgcta
     3001 ctgccctctc tacagatgtg tctgaaatgc ctgcccaagg atggccctta gccagttaac
     3061 agctttatag cccatcctca ttgcttactg ccacccctca gctggggtcc aaggcagtac
     3121 tattcagttt attcaccaga cctgcctcca gacatctact tctttcaaaa attagtgttt
     3181 tccatcaagg agcatgttcc agagcatttc ccagagatgt cccaaagaac actgtccggt
     3241 gctgtggcgt acagtggcaa cagcattaga ctaagtggaa catcccagca ggctgcttta
     3301 gaatccgctc atttgactag atacgatgta attggctgtc tttaaaaaac gcgcacacac
     3361 acacaatctg ataggcatat ctcatgccca ttcaatatgg aatgttcttc gcttgctgaa
     3421 tttaagcctg tattttaagg ttttgtggtt cctcggccac aatgggtgat gtcactgata
     3481 gaacgaagct gagtttccaa gggtttgggg ctgtgcaaga gtaaacacta gagcttgagt
     3541 tgttatccag ctggcaagca cggaagtctt tgaagaatgt aatgtaaaaa gggaaaagaa
     3601 tgtaaagctt tttgtaccaa atgagagttg gagcccagcc aacaaatgct tttccctgtg
     3661 taaaagtctc tctggaaggg acattccatc tccatggtgc actctgaggg gcactgtcaa
     3721 ctagagattg gccccatcca ggtgggagga acccctttgg gatggtgagt atccaatctg
     3781 ctgtgcattt gacaggatct ctgaatggct aggtaatgga tcccaagcag gctcacaaat
     3841 ttaaatgagg gctttgtgtg cagaaagagg aataagtaca gattattttc ctaccactag
     3901 atttttgggg agagtcacca tggaatgttg acaattactt aaaatatttt aagctccctt
     3961 gctgaattcc tgtcctgtcc ctgaggaatc agatggtcat acagccatag gcacccaccc
     4021 gaaatttccc taggagttgg agtaatgcta gaattgaaga ccttctgagt aaagggcttc
     4081 tctgccttct cagaggcagg agaatttgca ctggttgtgt taaatgtata aaaagctata
     4141 tgttcaccag tttactcatt tccaatgtgt agatgaataa aatgtagtgt acaaattatt
     4201 tgaaaatccc agaaggaagg tacttttcaa atacagtatt ttttttaaca aataaactta
     4261 cgatttttac agca
//
LOCUS       NM_001013650            1896 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens proline rich 23B (PRR23B), mRNA.
ACCESSION   NM_001013650
VERSION     NM_001013650.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1896)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AK127998.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000329447.5/ ENSP00000328768.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC130416.4.
            On Sep 4, 2008 this sequence version replaced NM_001013650.1.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1896
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q23"
     gene            1..1896
                     /gene="PRR23B"
                     /note="proline rich 23B"
                     /db_xref="GeneID:389151"
                     /db_xref="HGNC:HGNC:33764"
     misc_feature    35..37
                     /gene="PRR23B"
                     /note="upstream in-frame stop codon"
     CDS             266..1063
                     /gene="PRR23B"
                     /codon_start=1
                     /product="proline-rich protein 23B"
                     /protein_id="NP_001013672.1"
                     /db_xref="CCDS:CCDS33868.1"
                     /db_xref="GeneID:389151"
                     /db_xref="HGNC:HGNC:33764"
                     /translation="MVSRPRSPSAFPAPWWGQQPGGPGPAKRLRLEEPAGPEPRAAPSL
                     EDPAGDPAVDALTSIVVLAAGCALRVPLDDVDLVLEPAPTSILRVSLGGHTLILIPEVL
                     LSSVDERSGAQHDSSAGLEVDVFLGAVREDVVVELEFCASVPEIAAQEEAYEEDADPEF
                     PELRMDSPTGSAAGLYPSSRSMFIPYREGPIPEPCALAPNPSSERRSPRPIFDLEFRLL
                     EPVPSSPLQPLPPSPCVGSPGPHARSPLPERPPCKARRRLFQA"
     misc_feature    266..412
                     /gene="PRR23B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZRT6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    941..1060
                     /gene="PRR23B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZRT6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 gtctgcatca ggaaggccca agggtccaac gagctaagct gagcccggtg gccggcgagg
       61 caccaccagc agcccagact acggtccccc aggaggcgcc ccgggagctc cgaggactcg
      121 ccccgcgtcg cgcggtcctg cgccccgctc gtcccaacca gcctccccta ccaccgacat
      181 ctgttacttc aaagaggact tcaccgccgc gctccccacg tccgctgcta ggcccaggag
      241 cgccgtccac agcgccgtcg aggcgatggt cagccggccc cgcagcccca gcgccttccc
      301 tgctccctgg tggggacagc agccaggagg acccggccct gccaagcgcc tccgattgga
      361 ggagcccgcg ggccccgaac cccgcgcggc acccagcctg gaagacccgg cgggggaccc
      421 ggccgtggac gcgctcacct ccatagtggt cctggccgcg ggctgtgccc tgcgtgtgcc
      481 cctggacgac gtcgacctgg tgctggagcc cgcaccaacg tcgatcctgc gagtgtctct
      541 cggtggacac accctcatcc tgatcccaga ggtcctcctg agctccgtcg acgaacgctc
      601 aggagcgcag cacgactcgt ctgccgggct ggaagtggac gttttcctgg gcgctgtcag
      661 ggaggacgtc gtcgtcgagc tggaattctg cgcatctgtc ccagagatcg ccgcccagga
      721 agaggcctac gaggaggacg cggaccccga gttcccggag ctccggatgg actccccaac
      781 cggctcagcc gctgggctct acccctcctc tagaagtatg ttcatcccct accgggaggg
      841 ccccatccca gaaccctgtg ctctggcccc caaccccagt tcagagagac gttctccacg
      901 ccccatcttt gacctggaat tccgccttct ggagcctgtc cccagctcac ctctccaacc
      961 tctacctccc tctccgtgcg tggggagtcc aggtccccac gcgcgctcgc cgctcccgga
     1021 acgccctccg tgcaaggccc ggagacgcct gttccaggca tagaccccca cccccacgta
     1081 cacacaacaa tcctggccgc tctgctggag gccctctagg attgcgggaa tctctcacat
     1141 tgagtatcca acaacctgga aattgggcac cgcgtgttcg gacaattgct ttttcgctgc
     1201 acactaccga tagtaggaga tgaagacgtc agcaagaaaa ggtatattct agacctcatc
     1261 tttaaataga aaatctgcgc aaggatacca gaaaatgtgt ccagatttct gggcttcttt
     1321 acaaggtcat attcagatcc cttcattctc cctcgttttg catcagttgt ttctctcaaa
     1381 ttccagtctt tctccagcat catactgcca ctcccgtttc tccccaaacc aagaaatcac
     1441 cagatctctt acgttgttag ttaccttgca tttttttccc atgaattttg gaagacttag
     1501 ccatggcttt tcttggggtt tttccaactg ctctccaagg aaactgccaa atagtatgct
     1561 tactatacaa gactgtatgt tgcttcttcc taggaacccc ttatcctgct gaagttttct
     1621 tctagtcttc taattctaaa tgaaaatttg tgttgaattt tatcagatgt tttcagcatg
     1681 cattgtgtta tgtatttttt tttaatttgt taatctggtg atttcaccca atggaaagtg
     1741 tttgcattcc tgctattcca cattatttta taccttttaa aatctaccct gagttttttc
     1801 tcatgtaaac caaacttcta acttttaaaa tgttagttta ttactgtagt tgcctcatat
     1861 ttttatatag gagataaaag attactggta aagctg
//
LOCUS       NM_001013653            1209 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens leucine rich repeat containing 26 (LRRC26), mRNA.
ACCESSION   NM_001013653
VERSION     NM_001013653.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1209)
  AUTHORS   Li Q, Fan F, Kwak HR and Yan J.
  TITLE     Molecular basis for differential modulation of BK channel
            voltage-dependent gating by auxiliary gamma subunits
  JOURNAL   J Gen Physiol 145 (6), 543-554 (2015)
   PUBMED   26009545
  REMARK    GeneRIF: Suggest that BK channel modulation by auxiliary gamma
            subunits depends on intra- and/or juxta-membrane mechanisms.
REFERENCE   2  (bases 1 to 1209)
  AUTHORS   Tian Y, Ullrich F, Xu R, Heinemann SH, Hou S and Hoshi T.
  TITLE     Two distinct effects of PIP2 underlie auxiliary subunit-dependent
            modulation of Slo1 BK channels
  JOURNAL   J Gen Physiol 145 (4), 331-343 (2015)
   PUBMED   25825171
REFERENCE   3  (bases 1 to 1209)
  AUTHORS   Gonzalez-Perez V, Xia XM and Lingle CJ.
  TITLE     Functional regulation of BK potassium channels by gamma1 auxiliary
            subunits
  JOURNAL   Proc Natl Acad Sci U S A 111 (13), 4868-4873 (2014)
   PUBMED   24639523
  REMARK    GeneRIF: Regulation of the Ca(2+)- and voltage-activated large
            conductance Ca(2+)-activated K(+) (BK) channel by associated
            gamma1-subunits, was investigated.
REFERENCE   4  (bases 1 to 1209)
  AUTHORS   Yan J and Aldrich RW.
  TITLE     BK potassium channel modulation by leucine-rich repeat-containing
            proteins
  JOURNAL   Proc Natl Acad Sci U S A 109 (20), 7917-7922 (2012)
   PUBMED   22547800
REFERENCE   5  (bases 1 to 1209)
  AUTHORS   Liu XF, Xiang L, Zhang Y, Becker KG, Bera TK and Pastan I.
  TITLE     CAPC negatively regulates NF-kappaB activation and suppresses tumor
            growth and metastasis
  JOURNAL   Oncogene 31 (13), 1673-1682 (2012)
   PUBMED   21822313
  REMARK    GeneRIF: The role of CAPC in the suppression of tumor growth and
            metastasis may be through its alteration of the tumor
            microenvironment.
REFERENCE   6  (bases 1 to 1209)
  AUTHORS   Yan J and Aldrich RW.
  TITLE     LRRC26 auxiliary protein allows BK channel activation at resting
            voltage without calcium
  JOURNAL   Nature 466 (7305), 513-516 (2010)
   PUBMED   20613726
  REMARK    GeneRIF: in non-excitable LNCaP prostate cancer cells, BK channels
            can be activated at negative voltages without rises in [Ca(2+)](i)
            through their complex with an auxiliary protein, leucine-rich repeat
            (LRR)-containing protein 26 (LRRC26)
REFERENCE   7  (bases 1 to 1209)
  AUTHORS   Anaganti S, Hansen JK, Ha D, Hahn Y, Chertov O, Pastan I and Bera
            TK.
  TITLE     Non-AUG translational initiation of a short CAPC transcript
            generating protein isoform
  JOURNAL   Biochem Biophys Res Commun 380 (3), 508-513 (2009)
   PUBMED   19250639
  REMARK    GeneRIF: CAPC transcripts have differential expression in cancer
            cell lines, and that S-CAPC is translated into a 7.5 kDa protein
            using a non-AUG start codon.
REFERENCE   8  (bases 1 to 1209)
  AUTHORS   Gonzalez-Begne M, Lu B, Han X, Hagen FK, Hand AR, Melvin JE and
            Yates JR.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   9  (bases 1 to 1209)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   10  (bases 1 to 1209)
  AUTHORS   Egland KA, Liu XF, Squires S, Nagata S, Man YG, Bera TK, Onda M,
            Vincent JJ, Strausberg RL, Lee B and Pastan I.
  TITLE     High expression of a cytokeratin-associated protein in many cancers
  JOURNAL   Proc Natl Acad Sci U S A 103 (15), 5929-5934 (2006)
   PUBMED   16585525
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC140911.1, SRR18074968.1226872.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA2150585 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371542.3/ ENSP00000360597.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL929554.20.
            On Jun 8, 2020 this sequence version replaced NM_001013653.2.
FEATURES             Location/Qualifiers
     source          1..1209
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..1209
                     /gene="LRRC26"
                     /gene_synonym="bA350O14.10; CAPC"
                     /note="leucine rich repeat containing 26"
                     /db_xref="GeneID:389816"
                     /db_xref="HGNC:HGNC:31409"
                     /db_xref="MIM:613505"
     CDS             109..1113
                     /gene="LRRC26"
                     /gene_synonym="bA350O14.10; CAPC"
                     /note="cytokeratin associated protein; leucine-rich
                     repeat-containing protein 26; cytokeratin-associated
                     protein in cancer; BK channel auxilliary gamma subunit
                     LRRC26; BK channel auxiliary gamma subunit LRRC26"
                     /codon_start=1
                     /product="leucine-rich repeat-containing protein 26
                     precursor"
                     /protein_id="NP_001013675.1"
                     /db_xref="CCDS:CCDS35184.1"
                     /db_xref="GeneID:389816"
                     /db_xref="HGNC:HGNC:31409"
                     /db_xref="MIM:613505"
                     /translation="MRGPSWSRPRPLLLLLLLLSPWPVWAQVSATASPSGSLGAPDCPE
                     VCTCVPGGLASCSALSLPAVPPGLSLRLRALLLDHNRVRALPPGAFAGAGALQRLDLRE
                     NGLHSVHVRAFWGLGALQLLDLSANQLEALAPGTFAPLRALRNLSLAGNRLARLEPAAL
                     GALPLLRSLSLQDNELAALAPGLLGRLPALDALHLRGNPWGCGCALRPLCAWLRRHPLP
                     ASEAETVLCVWPGRLTLSPLTAFSDAAFSHCAQPLALRDLAVVYTLGPASFLVSLASCL
                     ALGSGLTACRARRRRLRTAALRPPRPPDPNPDPDPHGCASPADPGSPAAAAQA"
     sig_peptide     109..186
                     /gene="LRRC26"
                     /gene_synonym="bA350O14.10; CAPC"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    322..387
                     /gene="LRRC26"
                     /gene_synonym="bA350O14.10; CAPC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2I0M4.2);
                     Region: LRR 1"
     misc_feature    394..459
                     /gene="LRRC26"
                     /gene_synonym="bA350O14.10; CAPC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2I0M4.2);
                     Region: LRR 2"
     misc_feature    466..531
                     /gene="LRRC26"
                     /gene_synonym="bA350O14.10; CAPC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2I0M4.2);
                     Region: LRR 3"
     misc_feature    538..609
                     /gene="LRRC26"
                     /gene_synonym="bA350O14.10; CAPC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2I0M4.2);
                     Region: LRR 4"
     misc_feature    547..549
                     /gene="LRRC26"
                     /gene_synonym="bA350O14.10; CAPC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:22547800; propagated from
                     UniProtKB/Swiss-Prot (Q2I0M4.2); glycosylation site"
     misc_feature    610..678
                     /gene="LRRC26"
                     /gene_synonym="bA350O14.10; CAPC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2I0M4.2);
                     Region: LRR 5"
     misc_feature    892..954
                     /gene="LRRC26"
                     /gene_synonym="bA350O14.10; CAPC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2I0M4.2);
                     transmembrane region"
     misc_feature    1000..1110
                     /gene="LRRC26"
                     /gene_synonym="bA350O14.10; CAPC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2I0M4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1188..1193
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC26"
                     /gene_synonym="bA350O14.10; CAPC"
                     /note="hexamer: AACAAG"
     polyA_site      1209
                     /gene="LRRC26"
                     /gene_synonym="bA350O14.10; CAPC"
                     /note="major polyA site"
ORIGIN
        1 aatatttgtg caggcgccgc aggaacgggc tccgcggacg acgggctcca gggacgcaca
       61 ggcagcgggc ctcccaccgc gggtgccggg ggcggggggg ctgcccccat gcggggccct
      121 tcctggtcgc ggcctcggcc gctgctgctg ctgttgctgc tgctgtcgcc ttggcctgtc
      181 tgggcccagg tgtcggccac ggcctcgccc tcggggtccc tgggcgcccc ggactgcccc
      241 gaggtgtgca cgtgcgtgcc gggaggcctg gccagctgct cggcactctc gctgcccgcc
      301 gtgcccccgg gcctgagcct gcgcctgcgc gcgctgctgc tggaccacaa ccgcgtccgt
      361 gcgctgccgc caggtgcctt cgcgggagcg ggcgcgctac agcgcctgga cctgcgcgag
      421 aacgggctgc actcggtgca tgtgcgagcc ttctggggcc tgggcgcgct gcagctgctg
      481 gacctgagcg ccaaccagct ggaagcactg gcaccaggga ctttcgcgcc gctgcgcgcg
      541 ctgcgcaacc tctcattggc cggcaaccgg ctggcgcgcc tggagcccgc ggcgctaggc
      601 gcgctcccgc tgctgcgctc actcagcctg caggacaacg agctggcggc actcgcgccg
      661 gggctgctgg gccgcctgcc cgctctagac gcgctgcacc tgcgcggcaa cccttggggc
      721 tgcgggtgcg cgctgcgccc gctctgcgcc tggctgcgcc ggcacccgct gcccgcgtca
      781 gaggccgaga cggtgctctg cgtgtggccg ggacgcctga cgctcagccc cctgactgcc
      841 ttttccgacg ccgcctttag ccattgcgcg cagccgctcg ccctgcggga cctggccgtg
      901 gtttacacgc tcgggccggc ctccttcctc gtcagcctgg cttcctgcct ggcgctgggc
      961 tctgggctca ccgcctgccg tgcgcgccgc cgccgcctcc gcaccgccgc cctccgcccg
     1021 ccgagaccgc cagacccgaa ccccgatccc gacccccacg gctgtgcctc gcccgcggac
     1081 ccggggagcc ccgccgctgc cgcccaagcc tgagcggccg cggccgcctg gagcgctcga
     1141 agcttccccc atgcctttgc cctcccttta cactgtctgc cggcgtcaac aagcgacaca
     1201 gaccgaaaa
//
LOCUS       NM_001013657            5128 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens GDP-D-glucose phosphorylase 1 (GDPGP1), transcript
            variant 1, mRNA.
ACCESSION   NM_001013657
VERSION     NM_001013657.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5128)
  AUTHORS   Adler LN, Gomez TA, Clarke SG and Linster CL.
  TITLE     A novel GDP-D-glucose phosphorylase involved in quality control of
            the nucleoside diphosphate sugar pool in Caenorhabditis elegans and
            mammals
  JOURNAL   J Biol Chem 286 (24), 21511-21523 (2011)
   PUBMED   21507950
  REMARK    GeneRIF: C15orf58 in humans and C10F3.4 in C. elegans display
            GDP-hexose phosphorylase activity but the major reaction catalyzed
            by these enzymes is the phosphorolysis of GDP-D-glucose to GDP and
            D-glucose 1-phosphate
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.47151.1,
            SRR1163657.253795.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000329600.8/ ENSP00000368405.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC091167.19 and BX440248.2.
            On Jun 2, 2019 this sequence version replaced NM_001013657.2.
FEATURES             Location/Qualifiers
     source          1..5128
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     gene            1..5128
                     /gene="GDPGP1"
                     /gene_synonym="C15orf58; VTC2"
                     /note="GDP-D-glucose phosphorylase 1"
                     /db_xref="GeneID:390637"
                     /db_xref="HGNC:HGNC:34360"
                     /db_xref="MIM:619240"
     misc_feature    199..201
                     /gene="GDPGP1"
                     /gene_synonym="C15orf58; VTC2"
                     /note="upstream in-frame stop codon"
     CDS             226..1383
                     /gene="GDPGP1"
                     /gene_synonym="C15orf58; VTC2"
                     /EC_number="2.7.7.78"
                     /note="GDP-D-glucose phosphorylase C15orf58"
                     /codon_start=1
                     /product="GDP-D-glucose phosphorylase 1"
                     /protein_id="NP_001013679.2"
                     /db_xref="CCDS:CCDS32327.1"
                     /db_xref="GeneID:390637"
                     /db_xref="HGNC:HGNC:34360"
                     /db_xref="MIM:619240"
                     /translation="MALPHDSNETSYLLPPNNEDWGRQTIPDFVYGQKDLMAEGIQWPR
                     NAPGIPDALPQSPFDAALCSAWKQRVELGLFRYRLRELQTQILPGAVGFVAQLNVERGV
                     QRRPPQTIKSVRQAFDPVQFNFNKIRPGEVLFRLHREPDLPGTLLQEDILVVINVSPLE
                     WGHVLLVPEPARQLPQRLLPGALRAGIEAVLLSLHPGFRVGFNSLGGLASVNHLHLHGY
                     YLAHRLPVEQAPSEPLDPGGHLHLLQDLPAPGFLFYTRGPGPDLESLISRVCRATDYLT
                     DHEIAHNLFVTRGAPPGKTSPSSALTGVRVILWARKSSFGIKDGEAFNVALCELAGHLP
                     VKTSQDFSSLTEAAAVALIQDCRLPPSQAEDVQAALVALMSQEEQ"
     polyA_site      2666
                     /gene="GDPGP1"
                     /gene_synonym="C15orf58; VTC2"
                     /note="major polyA site"
     regulatory      5087..5092
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDPGP1"
                     /gene_synonym="C15orf58; VTC2"
                     /note="hexamer: TATAAA"
     regulatory      5101..5106
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDPGP1"
                     /gene_synonym="C15orf58; VTC2"
                     /note="hexamer: AGTAAA"
     polyA_site      5107
                     /gene="GDPGP1"
                     /gene_synonym="C15orf58; VTC2"
     polyA_site      5128
                     /gene="GDPGP1"
                     /gene_synonym="C15orf58; VTC2"
ORIGIN
        1 gtatgcgtca cgggcgtcat gacctcgctg tggccccggc agcggctgcg gggaaagtcg
       61 cgaggtgcat ccgcttcggc tgcagctatt tactgaggac ccactggatg tcaagcattg
      121 tgcatagttt tcttcgattg ttgcaacatc ccttgcgagt ttctggagca gcagagctga
      181 aggaacccaa acttggactg aagtgactct actaaggtca gctctatggc tcttccacat
      241 gattcaaacg aaacttccta tttgctgcct cccaacaatg aggactgggg caggcaaacc
      301 attcctgact ttgtttatgg gcagaaggat ctcatggcag aagggattca gtggccaagg
      361 aatgcacctg gcatcccaga tgctctgcca caatctccct ttgatgctgc actctgctct
      421 gcctggaagc agcgggtgga gctggggctg tttcgctacc gtctacggga gctacagacc
      481 caaatcctcc ctggtgctgt gggtttcgtg gctcagctga atgtggagcg tggtgtgcag
      541 aggaggcccc cgcagaccat caagagtgtg aggcaggcat ttgaccctgt acagttcaac
      601 ttcaacaaga tccggcccgg agaagtcctc ttccgtttgc accgggagcc tgatctccct
      661 gggactctgc tgcaagaaga catcctggtg gtgatcaacg tcagccccct ggagtggggc
      721 cacgtgctgc tggtgcctga gcctgcccgc cagctccccc agcgcctgct gccgggtgca
      781 ctgagggcag ggattgaggc tgtgctgctg agcttacacc cgggcttccg tgtcggcttc
      841 aacagcctgg gaggcttggc ctcggtgaac cacctccacc tgcatggcta ttacctggcc
      901 cacagactgc ccgtggagca ggcgccaagc gagcccctgg accctggagg ccatttgcat
      961 ctgctccagg acctcccagc tcctggcttc ctcttttaca ctcgtgggcc agggcctgac
     1021 ttggagtcct tgataagcag ggtatgtcgg gccactgatt atctgactga ccatgagatt
     1081 gctcataact tgtttgtcac ccggggagct ccgccgggaa agacatcacc ttcctcagcc
     1141 ctcacagggg tccgagtaat tctgtgggcc cggaagtcca gctttgggat aaaggacggt
     1201 gaagctttca atgttgccct ctgtgagctg gctgggcacc tccctgtcaa aacatcccag
     1261 gacttcagca gcctgacaga ggcagctgct gtggccctca ttcaggactg tcggctgccc
     1321 ccatcccagg cagaagacgt acaggcagca ctggtggccc tgatgtccca ggaagagcaa
     1381 taatacttct ggatgtattt atgttctttt tttcttttct tttgagatag ggtctcactc
     1441 tgtccccagg ctagagtgta gtggtatgat cctggctcac tgtagcctcc acctctgggg
     1501 ctgaagtgat cctcccacct cagcctcttg agtagctgag actataggcg tgcaccacca
     1561 cacacctggc tttttttttt tttttttttt tttttaacga ttaggtgatt ttgtattttt
     1621 ttatatagac agcgtttcac catgttgccc aggctggtct tgaactcttg ggctgaagca
     1681 gtcctcccac ctcggcctcc caaagtactg agatgacagg agtgagcccc tggattcttt
     1741 tctgtttctt tttttttttt tttttttttt tttttttttg agatagtctc gctctgtcac
     1801 ctaggttggg gtgcactggt acaatctcgg ctcactgcaa cctccacctc tagggttcga
     1861 gtgatcctcc tggctcagcc tcccgagtag ctgggactat acaggctcct gccaccaaac
     1921 ccggctaatt tttttgtatt tttaaaagag aaggggtttc accacattgg ctaggctggt
     1981 cttgaactcc tgactttagg tgatccgccc gcctcggcct cccaaagtgc tgggattaca
     2041 ggcgtgagcc accacaccca gccaggatgt attcattttc tacctgatga gtccctttcc
     2101 agagcactgt ccatcatagt cctttggaca tttattttca tggctgcctt ctcacctgtc
     2161 tcagcctaag aagaaggatg aagaaagctg ataatgatct cttaaagggg agaaagataa
     2221 tggtctcttt aaaggggagc tgatagtggt ctctttaaag gggagaaaat ctggaataat
     2281 tctactgagt aagacatcat gaatgtatct gctacctctc cccgttcttg ttcaagcccc
     2341 aggggtgtta aaaaggagtg tgtgtgacag ttacacactc ctgactttac atttagattt
     2401 tgtcttcctt tgatatcaaa tgttagcacg gtaatagtgc ctgtgcctcc agtattgagc
     2461 tgccacttct gttctcagcc tgtttattcc cctttgctca ccacttattt ttattgcttt
     2521 gtcccttctt tccatttagc cctgctccac ccaaatgccc cactccttca ctttccctgc
     2581 caccttgagc tttcctctag cccccaacac caagttgaat gctcttcact gacatcatct
     2641 gatgtaaaaa cacagtgttg tcacaacttt ccgggtgcac gtcttttttt gttttgtttt
     2701 tttgtaaggc tggggtgcag tggtgcaatc acagctcact gcagacccaa actcttggtc
     2761 tcaagccacc ctcccacctc agccccctga gtagctggga cgataggtgt gcaccatcac
     2821 acctggctaa tttttaaatt ttttgtagag atagggtctt gctatgttgc ccgggttgct
     2881 gtcaaactcc tggccttaag aaatcctccc acctcggcct cccagagtgc taagatgcca
     2941 ccacaccttg gtgcaggttt tttttttttt tttttttttt tttttttgac acagggtcac
     3001 tgtcacccag gctggagtgc agtggtatga agacagctaa ctgcaagctt caacctcctg
     3061 ggctcaaaca atactcccat ctcagcctcc ctagtagctg ggaccacagg catgcgccac
     3121 cacacccggc tatttttttg gagagatagc atcttgccaa gttgcccagg ctggtctcga
     3181 actcctggcc tcaagatcct cccacctcag cctcccaaag tgctgagatt ataggcatga
     3241 gccactgcac ctggcctgag tttttttttt tttttcttga atcagagttt cactctgttg
     3301 cccaggctgg agtgcagtgg tgtgatctcg gctcactgcg tctctgcctc ctgggttcaa
     3361 gcaattcagc ctgagtcttc ttaatacccc cattcaaaac gggatggaga ctgacagttt
     3421 gtactttgtt caaggtcagg cagctggagt cgggactgca gcacaggcag gtaccagaag
     3481 atgagctggg acaatgtgtg cttgtgaccg cctctccagt cagtggttcc catggtgggt
     3541 agcactgtcc ttaacagttt gccctccctg agcctcagcc atccctcttg gggtctttcc
     3601 caagcacttt agaagctcct cttgatgtag acacaaaatc caaagctaag tcgttgttcc
     3661 tccgtctgca tctgagtcaa tgtgggaaat ttttttttat ctcattgctt tgttctgtcc
     3721 tgtttctcca gacatttcac actggttcca gaggaactag tcagtagaca ctattctaag
     3781 agagtatgtg ggtgtgaaat ctcattttcc ttttagctcc cttgaatgtt atacagcaaa
     3841 agtaaaagaa gtcttgggtt ggctgggcac gttggctcac acctttaatc ctagcacttt
     3901 gggaagccga ggcaggcaaa tcacttgtca ggagttcgag accagcctgg ccaacatggt
     3961 gaaaccccat ctctactaaa aatacaaaaa ttaggcgttg tggcggccac ctgtaatccc
     4021 atctacttgg gaggctgagg caggagaatc acttgaaccc aggaggcgga ggttgcagtg
     4081 agctgagatt gcacgactgt actccagcct gggcgatagt gcgagactca gtctcaaaat
     4141 aaataaatac ataaagtctt gggtccagct ctcaacagag attatcaccg ccaccactcc
     4201 ttcatcaaac atcctgaagg aatgagagtc cctgttcaca gcgtaagggt gaaagggggc
     4261 tcacacaggt gggttctggc tgctgtctga gtgggctcac ccaggagggg ttttgatttc
     4321 tctgcctccc aaactgtggg tcctagccct ggcttaggcc ttcaggtcgt tggctcccta
     4381 tacctaggcc tgtataaagc cttagtttcc agttttcatt agaggtttta catcccaaat
     4441 gatgttacaa agtctccctg tgataaagca gaatatgtgt ccatagccca ttttataaga
     4501 aaaacagttt aggccaggtg cggtggctca cgcctgtaat cccagcactt tgggaggctg
     4561 aagcaggcag atcacaaggt caggagttca agaccagcct ggccaacatg gtgaaacccc
     4621 gtctctacta aaaacacaaa aattagctgg gtgtgggtgc acatctatag tcccagctac
     4681 tcaggaggct gaggcaggag aatcgcttgg acctgggagg cggaggtggc agtgagccga
     4741 gatcgcgcca ctgcactcca gcctgggcgg cagagagaga ctttgtctca aaaaaaaaaa
     4801 aaaagaaaaa aacagtttac cattctatca gaaaatgttg accaccctca tatttttggt
     4861 aaactgcagt aatttttcct taatactttt tgcaagcttt tgcatgcata agctccagta
     4921 tcacacttaa ttttgcttgc ttgctctctg aagggagttc ggatgaccat tacagcaaag
     4981 tggattttgc gttcaaagtg ataagccaaa tatcaggatt ttcccagttt ctccgtagga
     5041 ctgatgttta gaggaaagcc ttccctgact caaatatgtt tctccatata aaaaggggaa
     5101 agtaaaatgg gttttctttc tggtggta
//
LOCUS       NM_001013659            7117 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 793 (ZNF793), mRNA.
ACCESSION   NM_001013659
VERSION     NM_001013659.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7117)
  AUTHORS   Yu M, O'Leary RM, Kaz AM, Morris SM, Carter KT, Chak A, Chandar A,
            Willis JE, Moinova HR, Markowitz SD, Brenner DE, Anandabapasathy S,
            Westerhoff M, Wong CJ, Shaheen NJ, Chen Y, Barnholtz-Sloan JS and
            Grady WM.
  TITLE     Methylated B3GAT2 and ZNF793 Are Potential Detection Biomarkers for
            Barrett's Esophagus
  JOURNAL   Cancer Epidemiol Biomarkers Prev 24 (12), 1890-1897 (2015)
   PUBMED   26545406
  REMARK    GeneRIF: B3GAT2 and ZNF793 are hypermethylated in BE, and the
            methylation status of these genes can be used to detect BE in tissue
            samples.
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: SRR1803612.454228.1 [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA2142348,
            SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000627814.3/ ENSP00000487183.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK131417.1, DB180171.1, BX537524.1, AC022148.6, BE219465.1 and
            BU683546.1.
            On Nov 23, 2018 this sequence version replaced NM_001013659.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7117
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..7117
                     /gene="ZNF793"
                     /note="zinc finger protein 793"
                     /db_xref="GeneID:390927"
                     /db_xref="HGNC:HGNC:33115"
     misc_feature    410..412
                     /gene="ZNF793"
                     /note="upstream in-frame stop codon"
     CDS             443..1663
                     /gene="ZNF793"
                     /codon_start=1
                     /product="zinc finger protein 793"
                     /protein_id="NP_001013681.2"
                     /db_xref="CCDS:CCDS46062.1"
                     /db_xref="GeneID:390927"
                     /db_xref="HGNC:HGNC:33115"
                     /translation="MIEYQIPVSFKDVVVGFTQEEWHRLSPAQRALYRDVMLETYSNLV
                     SVGYEGTKPDVILRLEQEEAPWIGEAACPGCHCWEDIWRVNIQRKRRQDMLLRPGAAIS
                     KKTLPKEKSCEYNKFGKISLLSTDLFSSIQSPSNWNPCGKNLNHNLDLIGFKRNCAKKQ
                     DECYAYGKLLQRINHGRRPNGEKPRGCSHCEKAFTQNPALMYKPAVSDSLLYKRKRVPP
                     TEKPHVCSECGKAFCYKSEFIRHQRSHTGEKPYGCTDCGKAFSHKSTLIKHQRIHTGVR
                     PFECFFCGKAFTQKSHRTEHQRTHTGERPFVCSECGKSFGEKSYLNVHRKMHTGERPYR
                     CRECGKSFSQKSCLNKHWRTHTGEKPYGCNECGKAFYQKPNLSRHQKIHARKNAYRNEN
                     LIIVGNT"
     regulatory      7089..7094
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF793"
                     /note="hexamer: AATAAA"
     polyA_site      7117
                     /gene="ZNF793"
                     /note="major polyA site"
ORIGIN
        1 attcaggatg ggacgacctt ataccgcggc tctttctggc aaaggtaatg acatacgcat
       61 ctgtgccagc atcccaagag tgaggctggt ttctggaaat ccattctgac tctgtgacag
      121 cggggatgga tgtgaccttg cccgtggtta gaaaacaaat ttactgagtt ctctgggtgc
      181 cctgcagacc tttggatcct gccaccttgc tggacgggag ggctctctag ctcctgccag
      241 cccttagagc cacaggacct tggtcacaac atctacagaa ggccctgcag ctaagtgatc
      301 taatccagga tcatatgctg cctttaggtg acacatccct ttagtctcct ttaatcagga
      361 gcagtttctc agtgttcatc ttccatgaag tcgacatttt tgaagagtat aggtgtcaga
      421 tctttttcaa gaacagcaga aaatgatcga ataccagata cctgtgtcat tcaaagatgt
      481 ggttgtgggc ttcacccaag aggagtggca ccggctgagt cctgctcaga gggccctgta
      541 ccgggatgtg atgctggaaa cctatagcaa cctcgtctca gtgggttatg aaggcaccaa
      601 accagatgtg atcctcagac tggagcagga agaagcacca tggattggtg aggcagcatg
      661 cccgggctgc cactgttggg aagacatctg gcgagttaat atccagagga aaagacggca
      721 agacatgctt ttgaggccag gcgcagccat aagcaagaaa acattgccca aggagaaaag
      781 ctgtgaatat aataagtttg ggaaaatatc acttctgagc actgatcttt tttcttcaat
      841 ccagagccct agtaactgga acccttgtgg aaagaatttg aaccataatt tagacttgat
      901 tggttttaag agaaactgtg caaaaaagca agatgagtgt tatgcttatg ggaaattgct
      961 tcagcgtata aatcatggta gacgacctaa tggagaaaag ccccggggtt gcagtcactg
     1021 tgagaaagct ttcacccaga acccggcact tatgtataaa ccagcagtaa gtgattctct
     1081 cttgtacaaa cggaagaggg ttccacctac agaaaaaccc cacgtctgta gtgagtgtgg
     1141 gaaagccttc tgctacaagt ctgaattcat taggcatcag agaagtcaca ctggggagaa
     1201 gccttatggc tgcactgact gtgggaaagc cttttcacat aagtcaaccc tcatcaaaca
     1261 ccagagaatt cacactgggg taagaccctt tgaatgtttt ttttgtggga aagcctttac
     1321 ccagaagtca caccgcacag aacatcagag aacacacaca ggagagagac cctttgtctg
     1381 cagtgaatgc gggaaatcgt ttggtgagaa gtcatacctc aatgtacatc gaaaaatgca
     1441 cacaggagaa agaccgtatc gttgcagaga atgtggaaaa tccttcagcc agaagtcatg
     1501 cctcaataaa cattggagaa ctcacacagg agagaagccc tatgggtgca atgaatgtgg
     1561 gaaagctttc taccagaagc caaacctcag cagacatcag aaaattcatg ctcggaagaa
     1621 tgcctacagg aatgaaaact taataattgt gggaaatact tgagcaaaat atctggtttc
     1681 atggtatgta gggaattttt tttttttttt tttgagttgg aatctcactt tgtcacccag
     1741 gctggagtgc agtggcgcga tctcggctta ctgcaagctc tgcctcccgg gttcacgcca
     1801 ttctcctgcc tcagcctccc gagtagctgg gactacaggt gcccaccacc atgcccggct
     1861 aatttttttt ttgtattttt agtagagacg gggtttcacc gtgttagcca ggatggtctc
     1921 gatctcctga ccttgtgatc tgcccgcctt gtcctcccaa agtgctggga ttacaggcgt
     1981 gagccaccgc gcctggccgg tatgtaggga atttatcctt aggagaaatc ttatcatttt
     2041 aatgaatttg aacagtgtgt ttttatttta tttatttatt tattttgagt tgtattctct
     2101 gtttcccagg ctggagtgca atggcactat ctcggctcac tgtaacctca gcctcccagg
     2161 ttcaagcagt tctcctgcct cagcctccca agtagctggg attacaggca cctgccacca
     2221 cgcctggcta atttttgtat ttttagtaga gatggggttt caccatgttg gtcaggctgg
     2281 tctctttggc taggctggtc tcgaactcct gacctcgtga taccccccaa ccccccgccc
     2341 ttggcctccc aaagtgttgg gattacaggc atgagccaac gcgcccaacc gacagtgttg
     2401 tatcataatg gaaatcatga tctaattgtg atacaaactt ttctagaaaa tactttctca
     2461 aacataagca tggacaccct ggcatgtaaa cgtttaaaaa tgtattaaat ggaataacag
     2521 cagaatacaa aatatctgtg aagagactta aaggcatact ctggtatatt ccacagtgag
     2581 ccatacaatc agcattattt gtattttgga gttgtaaatg tgaaattaac ataaaatgtg
     2641 aatatcagac acatgtcaca caacatatag aatgccattc agaaaacttt tccactttaa
     2701 atatcatcat tgtcttttga tgtcttaaca atacaaaaaa ataacaacaa catggcccac
     2761 tattgttaaa agaactttat tataccagct acatttttcc acctttttgt aatacatgta
     2821 aatggctata gaggttgtta ctgtcctctg cagaaataat aaagcagtgt ttttaaatgt
     2881 atttggataa tttggccaaa aattttacta aaatgtagtt atttatatta aaaatgcaag
     2941 ctaaggaata gtttaagaac ctgatactgg gtaaatgaaa cactgtaaac tatttgacaa
     3001 aatgtagtgt caccctggtg tacagtacac tgttcatatt ttcttagtct tgcttaaaat
     3061 atcttgtagc aaattagtag cattgctaca ctattctaga tacactattc tatatacagg
     3121 ttgtataact cagaaatgtt tcatgcgtag accactgaag gagaatttct tttctctcta
     3181 tccctctgca aattaattca agaatattca tttttttcat ataaatttcc ttgcaagtgt
     3241 cctagacact aaatcccaag gttttaatta tttcaatgtt tggaaagaag tctgcttccc
     3301 tgagttgcta tgtcatccat attagaaaat aaatggccat gtggaatcta catttttcaa
     3361 gatttccctc catgtaagac tgcctgatcc agaatgagaa aggagacata accacagata
     3421 tcaatatgat tttttaagtg ataaaaagat acctcataca actctaatca acatattttt
     3481 taaaaagagg aggtggatgc ttttctaata aacttaagtt atgaaaactg caataagaag
     3541 tagaaaactt ggtaggatag ttaacattga aaaactcaaa aaagctatta aagatctata
     3601 atgggaaaat gctccaggct cagaagagtt catgcttagt tctatctttt aaagaaagag
     3661 taataccagt gttatttatt atatggatgt aatacaatcc atgaactgta ctcatttatt
     3721 ttattaagtc agaataaatt ttaacaccaa aatcaaatac agatagttga aaaaagaaaa
     3781 cttctgctgg gtgcggtggc tcacgcctgt aatcccaaca ctttgggagg ccgaggcagg
     3841 tggatcatga ggtcagaagt tcgagatggt gaaaccccat ctctactaaa aatacaaaaa
     3901 ttagccgggt gtggtggcac acacctgtag tcccagctac ttgggaggtt gaggcatgag
     3961 gcaggagaat tgcttgtacc caggaggtag aggttgcggt gagccaagat cgtgccatcc
     4021 agcctgggtg acaagagcga aactccgtca aaaaaaaaaa aaaaaaaaga aaacttcaga
     4081 ccagtcttac tcatgaatat agaaacaaaa attatagtta aaatactagc aaatagaatt
     4141 cagccatata cccaaagagt gacatagtaa gagtcatccc aagaatgcca aaccagttca
     4201 gttaatagga aatgcatcaa tcaaattaac agtttaaagg agaagaatca tatgaactct
     4261 caacagatac tgagaaggca tttcatagaa tgtgttaatt tacattgtaa tagatgggaa
     4321 ccacttaaag cggtttttct taaaaaaaat tttttttaac ccaaacccca aagcatatat
     4381 tatgccaaag ccatttttta aaatcaggaa ttcaatattg gcttagagat tccagtgaag
     4441 gcaataaaaa gaaatgaatt ggtataaaca gcagaaaagg taaaactatc catttttact
     4501 gatgatatgg ttgtacacca ataaatgaaa agactatttt ttgagttaac ttttctaaga
     4561 agacagggta ccaaaatcaa gagctgttct ccatactgac aagaaaacat aatttatatg
     4621 tacttctttt ggaattacac taaatctcaa tgattttttg acaatcattg aaaaaaatat
     4681 atgaaaaaaa tcataccatg tataaaaaca tcacatgtac ccaataaata tatacaacaa
     4741 ttatatatct ataataatta aaaattttta aaatgccatg ctagatacca gaagataaca
     4801 tgaagccatt ctaatgaaat taatattgta ttggcaaagg aacaggtaaa tacatcatta
     4861 gaacacagta gaaaattcag aaatagactt cgatatatat gaactttttc atatgtgaaa
     4921 aaggtgaaat ctgaaaccac aggggaaaag agtagtttac ttaaaaagaa ttctggaaca
     4981 gaacctttta atcttaaagg aagaaaattt ggattaacag cacaaaaata aattctgggt
     5041 ggctttaaga cgtaaaattt taaagcaaca gaattcttaa aagaaaatca aaggagccta
     5101 tgtgtacaat ctaggagttg ggagatatta actttaccaa cacaggacac tcagaagcta
     5161 tttagaaata agcagttgaa ggctgggtgc agtggctcat gcctgtaatc ccaacacttt
     5221 gggaggctga ggcaggagga tcacctgagg ttaggagttc aagactagtc tggtcaacat
     5281 ggtgaaaccc catctccact aaaaatacaa aaattagctg ggtgtggtgg cacatgcctg
     5341 tagtcccagc tacttgggag gctgaggcag gagaatcact tgaacctgga aggcaggggt
     5401 tgaagtgagc tgagattgca ccactgcact ccagcctggg caacagagca agactccatc
     5461 tcagaaaaaa agaaaaagaa aaaaaaaagg aaacaaacat ttgactacgt agaatctttt
     5521 ggtacaatct tttgggtgac aaaagatgcc atcagcaaac tcaagagata atagattgtg
     5581 gggaaatatt tgtaaagctg atcagagaga aggcattcat gaaatggaca ggaaaaaaac
     5641 ccaatagcaa aatgtggcaa agaatatgag ttgacagttg tgagaagagc aaatctaagt
     5701 ggccaatgga cctgtccaaa aatgtttatc ctcagtagtc actgggggat gcagatttaa
     5761 agttaaaatc aaataacact gtgtaacagc atttttagct atcagaacaa aagatgttac
     5821 acactgctgg tggagaaata aattttgaaa aacaatgcaa attactgttt tggaaagaaa
     5881 tctggtaata tttaggctgg gcgtggtggc tcacacctgt aatcctagca ctttgggagg
     5941 ccgaggcagg caaattgtct gaggtcggga gttcgagaac agcctggcca gcatggtgaa
     6001 accccgtctc tactaaaaat acaaaaatta gctgggcatg gtggcaggca cctgtgatcc
     6061 cagctactcg ggaggctgag gcaggagaat cacttgaacc caggaggcag aggttgcagt
     6121 gagccaagat cgcgccattg cactccaacc tgggcaacag agcaaaaaga ttccatctca
     6181 aaagaaaaga aaagaaatct gttaatatta ttaaaatatt tatgtcactt tggagaatct
     6241 tcccttagaa gtaaaagctc caatacataa aagacagatg aacatgtgaa catggacatt
     6301 tattgtaaaa attgttctta atggcaaaaa aacccccaaa accaaagcaa acactagaat
     6361 caaagtaaat acccatcaac tgggaaattg tagaaaggaa aaaactatag tgtatccatt
     6421 ccatagaatg ttaatatagc cattaaggtg gacaaattaa aactatgcta gtggacttga
     6481 gtggaattcc acaatgttct cttgagtgaa aaatgcaagg tagatattaa gtatgttaaa
     6541 tatgactcca tttttttaaa tcattaacaa aatgtctcta ggtgtttgtc agcaataaac
     6601 ggtatctata tatgtttatt tgattttatg tgcatgaaga aaagtataga agagtatgca
     6661 ttgacttgga gggaggtggg taatgcaggt aggttatggg ggagtcaggg gtgtagggaa
     6721 aaggaaaacc aaaaaagaaa aatacataaa tgactgaatc acgggtgata ccacaaatgt
     6781 gtgagttagt aaatttggct ggggatgggg gagctagaat tttgctaatt tgtggggatg
     6841 ttcatggtat atattgtaaa aagggaaaat ttcataataa tgtatacgat tctattttta
     6901 aaaaaagtaa aaactcctgt gtgtgtatat atgcatgtgg atgtttatat gaacatagaa
     6961 aagtgtagaa gaatacacac gaaggtgtta acattcattg gttaccttgg tggagaaggg
     7021 taataagttt tctgaatacc tttgcattgt cttgttcaca tatattgctt ttgtaatttg
     7081 aaaaacaaaa taaaggggga aaacatttca aactgaa
//
LOCUS       NM_001013661            1818 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens V-set and immunoglobulin domain containing 8 (VSIG8),
            mRNA.
ACCESSION   NM_001013661
VERSION     NM_001013661.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1818)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC132895.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145893
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368100.1/ ENSP00000357080.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590560.9.
            On Mar 30, 2005 this sequence version replaced XM_372802.2.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1818
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.2"
     gene            1..1818
                     /gene="VSIG8"
                     /note="V-set and immunoglobulin domain containing 8"
                     /db_xref="GeneID:391123"
                     /db_xref="HGNC:HGNC:32063"
     CDS             137..1381
                     /gene="VSIG8"
                     /note="V-set and immunoglobulin domain-containing protein
                     8"
                     /codon_start=1
                     /product="V-set and immunoglobulin domain-containing
                     protein 8 precursor"
                     /protein_id="NP_001013683.1"
                     /db_xref="CCDS:CCDS30913.1"
                     /db_xref="GeneID:391123"
                     /db_xref="HGNC:HGNC:32063"
                     /translation="MRVGGAFHLLLVCLSPALLSAVRINGDGQEVLYLAEGDNVRLGCP
                     YVLDPEDYGPNGLDIEWMQVNSDPAHHRENVFLSYQDKRINHGSLPHLQQRVRFAASDP
                     SQYDASINLMNLQVSDTATYECRVKKTTMATRKVIVTVQARPAVPMCWTEGHMTYGNDV
                     VLKCYASGGSQPLSYKWAKISGHHYPYRAGSYTSQHSYHSELSYQESFHSSINQGLNNG
                     DLVLKDISRADDGLYQCTVANNVGYSVCVVEVKVSDSRRIGVIIGIVLGSLLALGCLAV
                     GIWGLVCCCCGGSGAGGARGAFGYGNGGGVGGGACGDLASEIREDAVAPGCKASGRGSR
                     VTHLLGYPTQNVSRSLRRKYAPPPCGGPEDVALAPCTAAAACEAGPSPVYVKVKSAEPA
                     DCAEGPVQCKNGLLV"
     sig_peptide     137..199
                     /gene="VSIG8"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    926..988
                     /gene="VSIG8"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DPA2.1);
                     transmembrane region"
     regulatory      1796..1801
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VSIG8"
                     /note="hexamer: AATAAA"
     polyA_site      1797
                     /gene="VSIG8"
     polyA_site      1818
                     /gene="VSIG8"
                     /note="major polyA site"
ORIGIN
        1 actcattgca ccttcctgcc accccaggca gtgtctgggc cctcagctcc ccctccctcc
       61 acctaccccc tcacacccac cactacgacc ccacgggata cccagcccag acggaggaaa
      121 caccgagcct agagacatga gagttggagg agcattccac cttctactcg tgtgcctgag
      181 cccagcactg ctgtctgctg tgcggatcaa cggggatgga caggaggtcc tgtacctggc
      241 agaaggtgat aatgtgaggc tgggctgccc ctacgtcctg gaccctgagg actatggtcc
      301 caatgggctg gacatcgagt ggatgcaggt caactcagac cccgcccacc accgagagaa
      361 cgtgttcctt agttaccagg acaagaggat caaccatggc agccttcccc atctgcagca
      421 gagggtccgc tttgcagcct cagacccaag ccagtacgat gcctccatca acctcatgaa
      481 cctgcaggta tctgatacag ccacttatga gtgccgggtg aagaagacca ccatggccac
      541 ccggaaggtc attgtcactg tccaagcacg acctgcagtg cccatgtgct ggacagaggg
      601 ccacatgaca tatggcaacg atgtggtgct gaagtgctat gccagtgggg gctcccagcc
      661 cctctcctac aagtgggcca agatcagtgg gcaccattac ccctatcgag ctgggtctta
      721 cacctcccag cacagctacc actcagagct gtcctaccag gagtccttcc acagctccat
      781 aaaccaaggc ctgaacaatg gggacctggt gttgaaggat atctccagag cagatgatgg
      841 gctgtatcag tgcacagtgg ccaacaacgt gggctacagt gtttgtgtgg tggaggtgaa
      901 ggtctcagac tcccggcgta taggcgtgat catcggcatc gtcctgggct ctctgctcgc
      961 gctgggctgc ctggccgtag gcatctgggg gctcgtctgc tgctgctgcg ggggctccgg
     1021 ggctggcggc gcccgcggtg ccttcggcta cggcaacggc ggcggggtcg gcggaggggc
     1081 ctgcggcgac ttggctagtg agatcagaga ggacgccgtg gcgcccgggt gcaaggccag
     1141 cgggcgcggc agccgcgtca cccacctcct ggggtacccg acgcagaacg tcagccgctc
     1201 cctgcgccgc aagtacgcgc ctcccccctg cggcggcccc gaggacgtgg ccctggcgcc
     1261 ctgcaccgcc gccgccgcct gcgaagcggg cccctccccg gtctacgtca aggtcaagag
     1321 cgcggagccg gctgactgcg ccgaggggcc ggtgcagtgc aagaacggcc tcttggtgtg
     1381 agcgcgcgcg ccgggccggg ctgcgcccca gccaggagga gggcgcgggg ctctctgtct
     1441 gcagctgggg acacgtcggg gctggggacg acctcgctcg ccccaggctg ccaggcggct
     1501 gggggtgaag gcatttccct aaggaaatgc gtagggaggc agagcctcct ccccaaaagt
     1561 gggaaggggc gggcgagggc ggaggaaggc gatcctgagc cttctccgca cccccgggac
     1621 cgaaggcttg ggggagaggg agggaggagg aggctgagtg tcctagagcg gctgaggccg
     1681 gaggcctggt gtccccagcc taagcagagg gccccggggg ccgggtgggt gggggtctgt
     1741 ctggacgaat tgttctgtgt gtgaggtctg agctctgagg cagcagtgtt agcacaataa
     1801 agaaacattg agacgtga
//
LOCUS       NM_001013663            1120 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens peptidyl-tRNA hydrolase domain containing 1 (PTRHD1),
            mRNA.
ACCESSION   NM_001013663
VERSION     NM_001013663.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1120)
  AUTHORS   Li C, Ou R, Hou Y, Chen Y, Wei Q, Zhang L, Lin J, Liu K, Huang J,
            Chen X, Song W, Zhao B, Wu Y and Shang H.
  TITLE     Rare Variant Analysis of PTRHD1 in Parkinson's Disease in the
            Chinese Population
  JOURNAL   J Parkinsons Dis 12 (6), 1917-1920 (2022)
   PUBMED   35848037
  REMARK    GeneRIF: Rare Variant Analysis of PTRHD1 in Parkinson's Disease in
            the Chinese Population.
REFERENCE   2  (bases 1 to 1120)
  AUTHORS   Sosero YL, Bandres-Ciga S, Gan-Or Z and Krohn L.
  CONSRTM   IPDGC
  TITLE     Analysis of PTRHD1 common and rare variants in European patients
            with Parkinson's disease
  JOURNAL   Neurobiol Aging 107, 178-180 (2021)
   PUBMED   34246528
  REMARK    GeneRIF: Analysis of PTRHD1 common and rare variants in European
            patients with Parkinson's disease.
REFERENCE   3  (bases 1 to 1120)
  AUTHORS   Chen SJ, Ho CH, Lin HY, Lin CH and Wu RM.
  TITLE     Lack of PTRHD1 mutation in patients with young-onset and familial
            Parkinson's disease in a Taiwanese population
  JOURNAL   Neurobiol Aging 100, 118 (2021)
   PUBMED   33004232
  REMARK    GeneRIF: Lack of PTRHD1 mutation in patients with young-onset and
            familial Parkinson's disease in a Taiwanese population.
REFERENCE   4  (bases 1 to 1120)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1120)
  AUTHORS   Khodadadi H, Azcona LJ, Aghamollaii V, Omrani MD, Garshasbi M,
            Taghavi S, Tafakhori A, Shahidi GA, Jamshidi J, Darvish H and
            Paisan-Ruiz C.
  TITLE     PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual
            disability and parkinsonism
  JOURNAL   Mov Disord 32 (2), 287-291 (2017)
   PUBMED   27753167
  REMARK    GeneRIF: PTRHD1 mutation leads to intellectual disability and
            parkinsonism in a consanguineous family.
REFERENCE   6  (bases 1 to 1120)
  AUTHORS   Burks GL, McFeeters H and McFeeters RL.
  TITLE     Expression, purification, and buffer solubility optimization of the
            putative human peptidyl-tRNA hydrolase PTRHD1
  JOURNAL   Protein Expr Purif 126, 49-54 (2016)
   PUBMED   27235175
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3533631.1, BG822994.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000328379.6/ ENSP00000330389.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013459.9.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 12, 2020 this sequence version replaced NM_001013663.1.
            Summary: This gene encodes the enzyme peptidyl-tRNA hydrolase.
            Peptidyl-tRNA hydrolases perform the essential function of
            recycling peptidyl-tRNAs. Mutations in this gene are associated
            with autosomal-recessive intellectual disability and parkinsonism.
            [provided by RefSeq, May 2017].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1120
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..1120
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79"
                     /note="peptidyl-tRNA hydrolase domain containing 1"
                     /db_xref="GeneID:391356"
                     /db_xref="HGNC:HGNC:33782"
                     /db_xref="MIM:617342"
     CDS             15..437
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79"
                     /EC_number="3.1.1.29"
                     /note="peptidyl-tRNA hydrolase domain-containing protein 1"
                     /codon_start=1
                     /product="putative peptidyl-tRNA hydrolase PTRHD1"
                     /protein_id="NP_001013685.1"
                     /db_xref="CCDS:CCDS33156.1"
                     /db_xref="GeneID:391356"
                     /db_xref="HGNC:HGNC:33782"
                     /db_xref="MIM:617342"
                     /translation="MHRGVGPAFRVVRKMAASGAEPQVLVQYLVLRKDLSQAPFSWPAG
                     ALVAQACHAATAALHTHRDHPHTAAYLQELGRMRKVVLEAPDETTLKELAETLQQKNID
                     HMLWLEQPENIATCIALRPYPKEEVGQYLKKFRLFK"
     regulatory      562..567
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79"
                     /note="hexamer: ATTAAA"
     polyA_site      584
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79"
                     /note="major polyA site"
     regulatory      838..843
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79"
                     /note="hexamer: ATTAAA"
     polyA_site      878
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79"
     regulatory      1025..1030
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79"
                     /note="hexamer: TATAAA"
     polyA_site      1049
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79"
     regulatory      1098..1103
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79"
                     /note="hexamer: AATGAA"
     polyA_site      1120
                     /gene="PTRHD1"
                     /gene_synonym="C2orf79"
ORIGIN
        1 gccctgatcc caagatgcac cggggagtag gtccggcctt tcgggtggtc aggaagatgg
       61 cggcctctgg ggcggagccg caggtcctgg tacaatactt ggtgttacga aaggatctat
      121 cacaagctcc gttctcctgg ccggcgggcg cactggtagc gcaggcttgt cacgcggcca
      181 ccgcggcctt gcacactcac cgcgaccacc cgcacacagc cgcttacctc caagagctgg
      241 ggcgcatgcg caaagtggtc ctcgaggccc cagatgagac caccctaaag gagctggccg
      301 agaccctgca acagaagaac attgaccaca tgctgtggct tgagcaacca gagaatatcg
      361 ccacttgtat tgctctccgg ccctacccca aggaagaagt gggccagtat ttgaagaagt
      421 tccgattgtt caagtaactg ctgctttgat gtgtttgaat acgcaggcca cccattccaa
      481 agcatcatgt gttccttgca gtgtcagctt gctcccgtct ttcagttgtg acaatttctt
      541 gagggttaag cacatgttca tattaaagtt gtcattaata actacttcct cttattaata
      601 agttcaagtg gggaaggtgg gagagcagta ttgtctgggg atcattgctc aaatagaaga
      661 tttggttaga ctctcctgtg gggctcaagg aaactccctt ccagtcactc gggtttgaaa
      721 ctttgctttt gaattccttc ttattcacat ccagttatca tatttcattg aatctaagat
      781 aacatcaact ttaagatgcg gtagtatttt atgtattgtt aaaaaatatg ccggcaaatt
      841 aaacacttgt atttcaataa caaagatgtt aaaatttggc cagtgtggtg gctcacatct
      901 gttaattcca gggttttggg aagccaaggc aggaggatcg cttgagccca tgagttcaag
      961 gttacagtca gttctaatca tgccaccgca ctccagcctg ggcaacagag tgagacactg
     1021 tctctataaa gattaataac aagttaaaat ttgtgtgtgt ctatatatat gtacatacat
     1081 acagatttat tagattcaat gaaatctgtc aagtactaca
//
LOCUS       NM_001013672            1841 bp    mRNA    linear   PRI 28-FEB-2023
DEFINITION  Homo sapiens ligand of ATE1 (LIAT1), mRNA.
ACCESSION   NM_001013672
VERSION     NM_001013672.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1841)
  AUTHORS   Arva A, Kasu YAT, Duncan J, Alkhatatbeh MA and Brower CS.
  TITLE     The Ligand of Ate1 is intrinsically disordered and participates in
            nucleolar phase separation regulated by Jumonji Domain Containing 6
  JOURNAL   Proc Natl Acad Sci U S A 118 (1) (2021)
   PUBMED   33443146
  REMARK    GeneRIF: The Ligand of Ate1 is intrinsically disordered and
            participates in nucleolar phase separation regulated by Jumonji
            Domain Containing 6.
REFERENCE   2  (bases 1 to 1841)
  AUTHORS   Brower CS, Rosen CE, Jones RH, Wadas BC, Piatkov KI and Varshavsky
            A.
  TITLE     Liat1, an arginyltransferase-binding protein whose evolution among
            primates involved changes in the numbers of its 10-residue repeats
  JOURNAL   Proc Natl Acad Sci U S A 111 (46), E4936-E4945 (2014)
   PUBMED   25369936
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: KR780251.1, SRR3476690.385415.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000360127.7/ ENSP00000353245.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC141424.4, AK128660.1, BC141806.1, BC070116.1 and BG056786.1.
            On Nov 23, 2018 this sequence version replaced NM_001013672.4.
            CCDS Note: The coding region has been updated to remove a 30-nt
            insert that is absent in the GRCh37 reference genome assembly. The
            CDS of this locus includes a tandem repeat sequence that is present
            17 times in the reference genome assembly; the removed 30-nt insert
            corresponds to an additional repeat. Transcript data indicate that
            alleles contain variable copy numbers of this tandem repeat.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1841
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     gene            1..1841
                     /gene="LIAT1"
                     /gene_synonym="C17orf97; CK20"
                     /note="ligand of ATE1"
                     /db_xref="GeneID:400566"
                     /db_xref="HGNC:HGNC:33800"
     CDS             19..1290
                     /gene="LIAT1"
                     /gene_synonym="C17orf97; CK20"
                     /note="ligand of ATE1 protein"
                     /codon_start=1
                     /product="protein LIAT1"
                     /protein_id="NP_001013694.4"
                     /db_xref="CCDS:CCDS32519.2"
                     /db_xref="GeneID:400566"
                     /db_xref="HGNC:HGNC:33800"
                     /translation="METRGPGLAVRAESRRLVGIGPRAPPGRVGLQPSGRLDRRGGAGT
                     MGYKDNDGEEEEREGGAAGPRGSRLPPITGGASELAKRKVKKKKRKKKTKGSGKGDDKH
                     QSQSLKSQPLSSSFHDILSPCKERGPKPEHRQSKVEKKHLPSDSSTVSLPDFAEIENLA
                     NRINESLRWDGILADPEAEKERIRIYKLNRRKRYRCLALKGFHPDPEALKGFHPDPDAL
                     KGFHPDPEALKGFHPDPEALKGIHPDPEALKGFHPDPEALKGFHPDPEALKGFHTDPEA
                     LKGFHIDPEALKGFHPDPKALKGFHPDPKALKGFHTDPEALKGFHPDPKALKGFHPDPE
                     ALKGFHPDPEALKGFHPDPEALKGFHTDPNAEEAPENLPYLSDKDGSSSHRQPTSKAEC
                     PNLCFEGNLTPKLLHSDLAPTLLE"
     regulatory      1716..1721
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIAT1"
                     /gene_synonym="C17orf97; CK20"
                     /note="hexamer: ATTAAA"
     polyA_site      1753
                     /gene="LIAT1"
                     /gene_synonym="C17orf97; CK20"
                     /note="major polyA site"
     regulatory      1820..1825
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIAT1"
                     /gene_synonym="C17orf97; CK20"
                     /note="hexamer: CATAAA"
     polyA_site      1841
                     /gene="LIAT1"
                     /gene_synonym="C17orf97; CK20"
ORIGIN
        1 gcagcagggg tggtcgccat ggagacgcgt ggccctggcc tggcggtccg cgctgagagt
       61 cgccgattag tcggcatcgg gcctcgggcg cccccggggc gggttgggtt gcagcccagc
      121 gggcggctgg accgccgcgg tggggcgggg acaatggggt acaaggacaa cgacggcgag
      181 gaggaggagc gggagggcgg cgccgcgggc ccgcgggggt ctagactgcc ccccatcaca
      241 ggcggcgcct ccgagctggc caaacggaag gtgaagaaga aaaaaaggaa gaagaagacc
      301 aaggggtctg gcaaggggga cgataaacat cagagtcaga gcctgaagag ccagccgctt
      361 tcttcctcct ttcatgacat cttaagtcct tgcaaagagc gtggcccgaa accagagcac
      421 agacagagca aagtggaaaa gaagcacctc ccttctgact cctccaccgt cagcctcccc
      481 gactttgccg aaatagagaa ccttgcgaat cggatcaacg aaagtctgcg ttgggatgga
      541 attcttgctg acccggaggc agagaaggaa aggattcgca tctataaact gaatcggaga
      601 aaacggtacc ggtgcttggc cctcaagggc ttccaccccg accccgaggc cctcaagggc
      661 ttccaccccg accccgacgc cctcaagggc ttccaccccg accccgaggc cctcaagggc
      721 ttccaccccg accccgaggc cctcaagggc atccaccccg accccgaggc tctcaagggc
      781 ttccaccccg accccgaggc cctcaagggc ttccaccccg accctgaggc cctcaagggt
      841 ttccacactg accccgaggc cctcaagggt ttccacattg accccgaggc cctcaagggc
      901 ttccaccccg accccaaggc cctcaagggc ttccaccccg accccaaggc cctcaagggt
      961 ttccacactg accccgaggc cctcaagggc ttccaccccg accccaaggc cctcaagggc
     1021 ttccaccccg accccgaggc cctcaagggc ttccaccccg accccgaggc cctcaagggc
     1081 ttccaccccg accccgaggc cctcaagggc ttccacactg accccaatgc cgaggaggcc
     1141 cctgagaact taccctacct ctcggacaaa gatggcagct ccagccacag gcagcccacg
     1201 tcgaaagccg agtgccccaa tctctgtttt gaaggaaacc ttaccccaaa gcttctacac
     1261 tctgacttag ctcctactct gctggagtga aaatctaccc acgacgctca caaacttata
     1321 attcctcctc accacaagtt tatgtgttaa aaaccatcat cataaaagga aatgagaccc
     1381 gtatctgaag gaaacagatg ttcggtacac ggacgacgcc gactctccca tcaccaagct
     1441 gccctcggtt gcccaggaga gccacagtgc cttgagaaca taagcaattt agtgaacaga
     1501 gttcttttca gaatttcctt tttcttaagt aagcatctct gttacttaat ttctcaccac
     1561 agctagatgt ctataatctg ccccaaaaag aaaagaaagc gtgtagatga tttacctctt
     1621 aagtctcaat ctcatggtga aactcctcac acggtacctg cttctgttgg ccggaggacg
     1681 atgccctgaa cctcttggag cctttttctg ttttaattaa atgcatggcc tgcctttata
     1741 tggcctcaaa taagtgggtt ccagaactcc atccctggga agttaccatg ggaagtccca
     1801 agaggaatac tgcttctttc ataaacatgg tcctctccta a
//
LOCUS       NM_001013693            4016 bp    mRNA    linear   PRI 03-JUN-2022
DEFINITION  Homo sapiens low density lipoprotein receptor class A domain
            containing 2 (LDLRAD2), mRNA.
ACCESSION   NM_001013693
VERSION     NM_001013693.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4016)
  AUTHORS   Li J, Huang W, Han Q, Xiong J and Song Z.
  TITLE     LDLRAD2 promotes pancreatic cancer progression through Akt/mTOR
            signaling pathway
  JOURNAL   Med Oncol 38 (1), 2 (2021)
   PUBMED   33392788
  REMARK    GeneRIF: LDLRAD2 promotes pancreatic cancer progression through
            Akt/mTOR signaling pathway. Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK127275.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000344642.7/ ENSP00000340988.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590103.12.
            On May 17, 2019 this sequence version replaced NM_001013693.2.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..4016
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     gene            1..4016
                     /gene="LDLRAD2"
                     /note="low density lipoprotein receptor class A domain
                     containing 2"
                     /db_xref="GeneID:401944"
                     /db_xref="HGNC:HGNC:32071"
     misc_feature    11..13
                     /gene="LDLRAD2"
                     /note="upstream in-frame stop codon"
     CDS             188..1006
                     /gene="LDLRAD2"
                     /note="low density lipoprotein receptor A domain containing
                     2; low-density lipoprotein receptor class A
                     domain-containing protein 2"
                     /codon_start=1
                     /product="low-density lipoprotein receptor class A
                     domain-containing protein 2 precursor"
                     /protein_id="NP_001013715.2"
                     /db_xref="CCDS:CCDS30624.1"
                     /db_xref="GeneID:401944"
                     /db_xref="HGNC:HGNC:32071"
                     /translation="MEACCLLQLPQRLLLLGAAALTATALETADLAELCGQTWQGDGLL
                     LRSHAASRRFYFVAPDTDCGLWVQAAAPGDRIRFQFRFFLVYSLTPAPPALNTSSPAPA
                     DPCAPGSYLQFYEGPPGAPRPLGSPLCGLNIPVPVASSGPFLGLRLVTRGRQPRVDFVG
                     EVTSFRLGPCGAYFRCQNGRCIPSSLVCDPWGMDNCGDGSDQGSWSPADCRGPSPVPSQ
                     TGSTDAHTSRSLTPSPALGSAGSLWIAAERSSPAGRDPTRQDAALEGSTE"
     sig_peptide     188..262
                     /gene="LDLRAD2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    476..478
                     /gene="LDLRAD2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5SZI1.1); glycosylation site"
     misc_feature    791..1003
                     /gene="LDLRAD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SZI1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    887..937
                     /gene="LDLRAD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SZI1.1);
                     transmembrane region"
     regulatory      1058..1063
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LDLRAD2"
                     /note="hexamer: AAGAAA"
     polyA_site      1069
                     /gene="LDLRAD2"
                     /note="major polyA site"
     polyA_site      1075
                     /gene="LDLRAD2"
                     /note="major polyA site"
     regulatory      3977..3982
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LDLRAD2"
                     /note="hexamer: AATAAA"
     polyA_site      4016
                     /gene="LDLRAD2"
                     /note="major polyA site"
ORIGIN
        1 ctgaaccaaa tgaagaggat ctggaaggca aagcactaag atcatagtga agacttgcct
       61 cccccttctc cttgtgtccc accagcctcc ctgctggcct gaccaggccc catactccag
      121 tctccccaga gaccccaagc tgaagattct gtgggtctgc cccattgctg ggcacagcag
      181 agcctggatg gaggcttgtt gtcttctgca gttgccccaa aggttgctct tgctgggggc
      241 agccgccctg actgcaactg ctttggagac agccgacctg gcggaactgt gcgggcagac
      301 gtggcagggg gacgggctgc tgctgcgctc gcacgccgca tcgcgcaggt tctacttcgt
      361 ggctccggac accgactgcg ggctctgggt gcaggcggca gcccccggcg accggatccg
      421 cttccagttc cgcttcttcc tggtctacag cctgaccccc gcgcccccgg cgctcaacac
      481 ctcctccccg gccccggccg acccgtgcgc ccccggctcc tacctgcagt tctacgaggg
      541 cccgccgggg gcgccccggc ccctggggtc cccactgtgc ggcctgaaca tcccggtgcc
      601 tgtggcatcc tccggaccct ttctaggcct gcgcctggtc acgagaggcc gccagccccg
      661 cgtggacttc gtgggcgaag tcacctcttt ccgtctggga ccttgtggtg cctacttccg
      721 ctgccagaat ggcaggtgca tcccctcaag cctcgtgtgt gacccctggg gcatggacaa
      781 ctgtggcgat ggcagtgacc agggctcctg gtcaccagct gactgcagag gtccctctcc
      841 ggtgcccagc cagacaggaa gtacagatgc ccatacctcc agatccctga ctccctcccc
      901 agctctcggg tctgcaggat ccctctggat tgcagctgag aggagttccc cagcaggcag
      961 ggaccccacg agacaagacg cagctttgga aggctccact gagtgaagcc ctcatcaaag
     1021 actcaggagg cccctggcgg ggatagcacc gtttattaag aaaaatcaag acaaagacca
     1081 caggagggtc ccttctagga cacagaggcc aggcgtccca accccacagt ctgggggcca
     1141 ctggcaggat ggcacttgag ctggatcttc aggctcctgc agatggggca gggtggtcat
     1201 atccccctcc tctctctctc agtcgtgagt cctgccttcc cccacctaag gcactagctc
     1261 ttcctgagca ccagcggcat ccgtccgtcc gttgtctgtt ggaggagtcc ctgggccttc
     1321 acttccagat gggtggggat gtggcctggg gtgggcgggg cccggtgggc ggggccctat
     1381 cagtgctggg ctctgcctgt agcagctcct ggtaagagtt ggggtgggcc ttcccttaca
     1441 gcccctgagg gagggacccc aggctgtgtg ctggcaggag ggggtgggaa tgcaggccag
     1501 gaggacgtgg taggaggggg agtctgccag aggaggtgcc aggggctggg tggaggtggg
     1561 tgggggtgct gaaaaacgag ctggtgggga tggggaccgc ctgcccaggg gtgagctgcc
     1621 ttttgctcca cagccggcac taaagacaat tcccaatcct gagtgggtgg cagagactcc
     1681 tgcgatgccc gtctcaggta gctgtggggc accagcccac aagccgaggt tggctctcct
     1741 aggagtgaga actgcccaag ggctgcagaa acaggccacc cagctctatc tgggggctcc
     1801 atcggtgggt agggggacag tgggggcagt tctgggccca cccagccact gttcctgacc
     1861 ccaagtcctg gtgactttct gaggtgccca ctcccatcca acctgccttg ctggccagcc
     1921 ttgtggcttt gcccagctgt gtgtgtgagg gtggcatgcc cacctccagt ccagcccagg
     1981 gcggtagcag caaagcgtgg catcgcctcg gtttcttaca aaaattcata ataatattaa
     2041 taataatata ctcgacattg tcgggctggg gcgtggcccg ggagtccgtg tggggcaggc
     2101 aggtgcctac gaggggcagg ggcgtgtgtt ggccccggcc tgggcgcggt gctgcaggtc
     2161 caggggctgt gggggcgggg cgccgggtcg ggccgagtgc agcaccaggt tcttgacaca
     2221 gcctgtgatg cctgaggaga atctgccccc ggtcagcgtg gccacgtcag gggctccgcc
     2281 tgccgggagg tgagaggaca gggcctgtgg gctccagcag cccaggaggc gaggaaggct
     2341 gggcgagctc tagccctaag ggagtgccgt tcctgcccct gccctgagaa ggagccccag
     2401 acttaccgat gtagacgctg cccttggcgt tgactgccac gttgggacct ggggaccggc
     2461 cgctgaccag ctcctcaccg tcgacttgga tggaacctct gcggccctcc ctgcagtgga
     2521 actgggtcag gcccctttcc acaaacttcc tggtcctccc cggccccacg acagagtccc
     2581 ctccctctga tatcgagact ccagactcag aagtctgtcc ctgtttccca agctctttct
     2641 ttcccccgct gaacgagaga tcgggcccca caaacacagc ttcctcattt ctgcacccag
     2701 gtttcctccc actcctgggg cactcgcctg cccccagcgg agttcagtcc gagatggaag
     2761 cccgagccct ggctggtggg ttctcccctc ccctggcttc aagttctgtc tccacagagc
     2821 tcaatacctg cctctctgcc catggtaggg ggcgtcctgc cccactccag aacgctgggc
     2881 cccatcccga gtgcccggca gggtccctta ccgcagtgct gtcacccggt gccactcgcc
     2941 gtcattgatg gggtcctcag agaccaggcg ggcctcccca ctacccagct ggtacctgca
     3001 gtcatccagg cccaagaagt atgagctggg gcaggaccgg ggggtggggt gctgggacca
     3061 gggaagggag aggaagggcc aggtgccagg acctacctga agacaaggtg cccgtcttga
     3121 agcccgaggc tgatgaagtc cttgccttgg ccggcctctc ccacctcctg ccagggaagc
     3181 acagggtctc tggggtcccc agcctggaga gcagaggctg ccgaggccag ggggctctgc
     3241 tttcccctcc ccccaccact ccggccacca ggaagccagc ttcctgcccc aggagcccca
     3301 agagcccagc cggataccca cactcaccac accctgccag agcaggaggc cactggctgt
     3361 gctggtccga acctccagct cgatggtctc gggcacctcg ggcaggctgc ggaggaagag
     3421 cgggtgaggg gacagaagtc ccagattccc atcctcccca ttaggcccat gggcccttcc
     3481 aatgccagtc tcacctcctg gagaagacat ggccagggaa ggcgaggaag ccatcatcgt
     3541 ggaaataggc tccgtactgc ccaggggcat ctgtgggaga gaggagggtg gtgccatacc
     3601 tgctgcatca ggcatcaaaa tcccccgtca gttcccctga cccccacctc cacgccaaca
     3661 tgcaggacta gggggctccg agcctgcagt ccctggggac ccacgggggc tgccaacaga
     3721 attcagggag cctatgacct tggatgggaa agcattacac ctcaatttca ctcacttctc
     3781 actgaaattg agcagttctt tcaatgagat gtaggcaaga aaccaaagta gcagtggtag
     3841 gacctgcaac tttgttacta gtatttgctt atcacatgac agtagctgca aatatttcaa
     3901 aatatcattt acacatattg ctgctttgaa attgtggtag ctactgagat caccagatct
     3961 tgttatttga tgtgttaata aagaagcaca tatatagcaa gtcaggaaac ttaaaa
//
LOCUS       NM_001013694            4020 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens SRR1 domain containing (SRRD), mRNA.
ACCESSION   NM_001013694
VERSION     NM_001013694.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4020)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP,
            Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird
            CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien
            KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   2  (bases 1 to 4020)
  AUTHORS   Kedar V, Fletcher L and Powell L.
  TITLE     Molecular cloning of a novel mRNA highly expressed in
            haemochromatotic human liver and proliferating cells
  JOURNAL   Biochem Biophys Res Commun 226 (2), 461-466 (1996)
   PUBMED   8806657
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.164899.1,
            SRR1660803.231108.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000215917.11/ ENSP00000215917.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Z99714.2, BC066962.1, DA325985.1, BQ189353.1 and KF457388.1.
            On Nov 22, 2018 this sequence version replaced NM_001013694.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4020
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.1"
     gene            1..4020
                     /gene="SRRD"
                     /gene_synonym="HC/HCC; SRR1L"
                     /note="SRR1 domain containing"
                     /db_xref="GeneID:402055"
                     /db_xref="HGNC:HGNC:33910"
                     /db_xref="MIM:602254"
     CDS             15..1034
                     /gene="SRRD"
                     /gene_synonym="HC/HCC; SRR1L"
                     /note="hepatocellular carcinoma complicating
                     hemochromatosis; SRR1 domain-containing protein"
                     /codon_start=1
                     /product="SRR1-like protein"
                     /protein_id="NP_001013716.2"
                     /db_xref="CCDS:CCDS42995.1"
                     /db_xref="GeneID:402055"
                     /db_xref="HGNC:HGNC:33910"
                     /db_xref="MIM:602254"
                     /translation="MAAAAAAALESWQAAAPRKRRSAARRPRRREAAPRGREAAPRGRE
                     AAPRGPEAEFESDSGVVLRRIWEAEKDLFISDFWSSALETINRCLTKHLEQLKAPVGTL
                     SDIFGNLHLDSLPEESDVATDSIPREILVTGTCHLKCVCYGIGNFATCIVARNQLTFLL
                     LLLEKCQIPRSHCWVYDPLFSQLEIEVLNTLGVTVLSENEEGKRSIRGEPTIFYMLHCG
                     TALYNNLLWSNWSVDALSKMVIIGNSFKGLEERLLARILQKNYPYIAKILKGLEELEFP
                     QTSQYMDIFNDTSVHWFPVQKLEQLSIDIWEFREEPDYQDCEDLEIIRNKREDPSATD"
     misc_feature    15..176
                     /gene="SRRD"
                     /gene_synonym="HC/HCC; SRR1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UH36.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    102..164
                     /gene="SRRD"
                     /gene_synonym="HC/HCC; SRR1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UH36.1);
                     Region: 3 X 7 AA tandem repeats of R-E-A-A-P-R-G"
     regulatory      1273..1278
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRRD"
                     /gene_synonym="HC/HCC; SRR1L"
                     /note="hexamer: AGTAAA"
     polyA_site      1300
                     /gene="SRRD"
                     /gene_synonym="HC/HCC; SRR1L"
                     /note="major polyA site"
     regulatory      3957..3962
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRRD"
                     /gene_synonym="HC/HCC; SRR1L"
                     /note="hexamer: AATAAA"
     polyA_site      3982
                     /gene="SRRD"
                     /gene_synonym="HC/HCC; SRR1L"
                     /note="major polyA site"
     regulatory      3999..4004
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRRD"
                     /gene_synonym="HC/HCC; SRR1L"
                     /note="hexamer: AATAAA"
     polyA_site      4020
                     /gene="SRRD"
                     /gene_synonym="HC/HCC; SRR1L"
                     /note="major polyA site"
ORIGIN
        1 gacgtcagag accaatggct gcggccgcag ctgcggcgct ggaatcctgg caggcggcgg
       61 ctccgcggaa gaggcgctcc gcggctcgac ggccgcggcg gagggaggcg gcgccccggg
      121 ggagagaggc ggcgccccgg gggagagagg cggcgccccg gggccccgag gcggagttcg
      181 agtctgacag cggagtcgtg cttcgtcgca tctgggaggc tgagaaggac ctgtttatct
      241 ctgatttctg gagttcagca ctagaaacca tcaatagatg tctcacaaaa catctggaac
      301 aactgaaggc ccctgtgggg actctttcag acatctttgg aaacctgcat cttgactcat
      361 tgccagagga gtcagatgtg gccactgatt ctatcccaag agagatcttg gtcacaggaa
      421 cctgccattt gaagtgtgtg tgttacggca ttgggaactt tgccacctgc atcgtagcta
      481 gaaaccagct aacgtttttg ctgcttttgt tggaaaagtg ccagattccc agaagtcact
      541 gttgggtata tgaccctctg tttagccaac ttgaaattga agtccttaac acccttggtg
      601 tgactgttct cagtgagaac gaggaaggga aacggagtat tcgcggggag cctaccatct
      661 tttacatgct ccattgtggg acggccttgt acaacaatct tttatggagt aactggtcag
      721 tagatgccct ttctaagatg gtcatcattg ggaacagttt caaaggactt gaggagaggt
      781 tgttggcaag gattctgcag aaaaattatc cctacattgc aaagatttta aaaggactgg
      841 aggagcttga gtttcctcag acttcacaat acatggacat atttaatgat acctctgtcc
      901 actggttccc tgtgcaaaag ctagaacagc tctccataga tatttgggag tttcgggaag
      961 aaccagatta tcaggactgt gaggaccttg aaatcatcag gaacaagaga gaagatcctt
     1021 ctgctactga ctgaactcgt tgtgaggtac tcagtgttgg ctgaggtaga agctgccacc
     1081 agagactaaa gggaaggctg ctatggagga actacagaga actcctttgc caggaaagaa
     1141 catcaacttg gctgtcctgt tttgaggacg ataccccaca tgaggacttg gtataaagat
     1201 tcctgcccta cgtggcattg tcccatttta catccttccc tcatgacctg gcctgatgtg
     1261 gagtagctcc tgagtaaaga agttaccctt ttgaaggtga tctaaaaata ctgtttattt
     1321 acagtacatc cctcttaggg gcaagtctct gactggttct ggacctgcca cagttcactt
     1381 ggccatgtcg atcaggctct gcagtgaggt gggcacccac gtcttctcgc cctggacaaa
     1441 gaccactccc cggtcgatgt agatcacaat gcggccaaag gtgtagagct gcttcccttc
     1501 gtgtcgcttc ccaatgacgg gcatgaagac aatgttgtgc tcctcagcct tggtctcaat
     1561 gaggtcctta aagttcatgg gcacagagct agcggccacg ccaatgcccc tctgagccat
     1621 gttctcagcc tcccgcctct cctgcatggc ctcgtactgg aagtccttcc tccgctccgt
     1681 gtgggtgaga taggcaatgt tctcccgtgc tcctggctgc atgtaggcac ctaagataca
     1741 ggaggacagg gcggtgagga gaggtgtttc caggtgtatg gaagttgaca ctgtggcttg
     1801 gcccaggtct tgggtgtgcc agagtgcttg tgactcactg aagggcagct ctgcctcaaa
     1861 gatacaactt tggaggaagt ttagacgact ggccagtatc acataaaaac tgttcagaag
     1921 gttcctggct agtatctagt aaccagatta ttaatattca acattttaaa atgaagtatc
     1981 tgcaagggat ttcttccttc agagctggaa acattaacag agagtcctca gccactcttc
     2041 tgttcccacc ttgctctgta gagtttccat ttcccaccac caaagaggca gcttttagta
     2101 ccttgaaaac atagggccca tactggcttt atttttaacc tacccacaca gggcccccat
     2161 cctgaaagaa gttcacatat atttagggag ctgaaatgag tgtttaaagg ataataccaa
     2221 gaccataaat gctaagtgct aattgagggg tatattcagg gaacagtttt ggaaacatga
     2281 ggccaagggt agctaaggaa gagtttttag aaaaaacttg ataattacag aagcagagaa
     2341 gtatatttgc cttattactt aatctctgtt ttcacagaat aggctatttt tctttttttt
     2401 tttttgagac cgagtctcgc tcttgtcacc taggctggag tgcagtgctt gcaatctcgg
     2461 ctcactacaa cctctgcctc ccaggtttaa gcgattcttc tgcctcagcc tcctaagtag
     2521 ctggcattac aggcatgtgc caccgcgccc ggctaatttt tgcattttta gtagagacgg
     2581 ggtttcacca tgttggtcag gctggtctcg aactcctgac ctcgtgatct acccgcctcg
     2641 gcctcccaaa gtgctaggat tacaggcgtg agccaccgtg cctggcctag gctattaaat
     2701 aacaagaatt aaagactcag gaaatagaaa ttccagttct aactgccacc ctttaactat
     2761 gtgaccttga acaggctctc agcctcgctg ggcttatctg taaaacacag actagacgat
     2821 cccatttcaa tgctgcgaat cggctaatga gcaacactgg agcacaggac tggttgaaat
     2881 aggctcccaa atgtagaaac ataaatatac tctcacttac ttatgatcta ggcagaatga
     2941 cttacctaga acttgggaac agatatagta cacgaacagt gaactgcctg tttttgacaa
     3001 cacagacacc acctattgaa ggctatacac aagcatgaac tcactctccc ttttagccta
     3061 taaagtagat cttactgttt aacaggtaaa atggggctga ttaaggctga gcaatcacca
     3121 agtgtcagac cgcgtgccaa actccacact gtaagatgcg tcacctaagc agcatgctca
     3181 ggcatgaatg agccttaaaa ggccacacag cacagtggtt aagagggcgg ggcctggggt
     3241 tagactgaca tcatctgaat ccagcttaag tcagtctcca ctcagggaag atgcccctct
     3301 cagtcatggt agacctgggc agtgggtgcc agctgaccat gtaccccagt cagcagggtg
     3361 agagtctgtt gctatgtgca aaagtgtgac ctaaggttta ggctgcctac aggaaccaga
     3421 aaactctgat tctgtgtcat ttacatgtgt aaaatctgaa acttggggcc aggacatcca
     3481 aaatgggaat cctcacttac caacgttgga ggacaccgcc cggttcatga tatcaagtgc
     3541 ctcattaaat ttgtccttga cagatggatg tgccagcact tggtctgaga acatcgactt
     3601 ccaacccagg taccacttgg tgatctcctc ataatttggg ctgttactga gccaagagca
     3661 cagcacctgc caaaaagaaa aattacttgc atccatcgtg gcaacaaatg aaggcaagat
     3721 ttctgaagtg gccatttgtt ttgttttgat cctggtccta caggctagtg acactacttt
     3781 acagggattt atagtagcta aacagtctag cacttatgaa tatggatttt ggagtcagcc
     3841 tggtagctaa agtgcccttg catgtaaact ctctgagcct cagcttccat gtctacacaa
     3901 cagggatacc atatccccta ccccataggg ttgctgagag gagctgagat aaagcaaata
     3961 aagtgcttgg aacagcttct gatacatggc aaatgtccaa taaatggtgc ccactatgaa
//
LOCUS       NM_001013698            2104 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens single-pass membrane protein with coiled-coil domains 3
            (SMCO3), mRNA.
ACCESSION   NM_001013698
VERSION     NM_001013698.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2104)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2104)
  AUTHORS   Cousminer DL, Berry DJ, Timpson NJ, Ang W, Thiering E, Byrne EM,
            Taal HR, Huikari V, Bradfield JP, Kerkhof M, Groen-Blokhuis MM,
            Kreiner-Moller E, Marinelli M, Holst C, Leinonen JT, Perry JR,
            Surakka I, Pietilainen O, Kettunen J, Anttila V, Kaakinen M, Sovio
            U, Pouta A, Das S, Lagou V, Power C, Prokopenko I, Evans DM, Kemp
            JP, St Pourcain B, Ring S, Palotie A, Kajantie E, Osmond C,
            Lehtimaki T, Viikari JS, Kahonen M, Warrington NM, Lye SJ, Palmer
            LJ, Tiesler CM, Flexeder C, Montgomery GW, Medland SE, Hofman A,
            Hakonarson H, Guxens M, Bartels M, Salomaa V, Murabito JM, Kaprio J,
            Sorensen TI, Ballester F, Bisgaard H, Boomsma DI, Koppelman GH,
            Grant SF, Jaddoe VW, Martin NG, Heinrich J, Pennell CE, Raitakari
            OT, Eriksson JG, Smith GD, Hypponen E, Jarvelin MR, McCarthy MI,
            Ripatti S and Widen E.
  CONSRTM   ReproGen Consortium; Early Growth Genetics (EGG) Consortium
  TITLE     Genome-wide association and longitudinal analyses reveal genetic
            loci linking pubertal height growth, pubertal timing and childhood
            adiposity
  JOURNAL   Hum Mol Genet 22 (13), 2735-2747 (2013)
   PUBMED   23449627
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK092637.1, BC132752.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000316048.2/ ENSP00000381895.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK092637.1, BM696674.1 and BU735185.1.
            On Nov 3, 2006 this sequence version replaced NM_001013698.1.
FEATURES             Location/Qualifiers
     source          1..2104
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.3"
     gene            1..2104
                     /gene="SMCO3"
                     /gene_synonym="C12orf69"
                     /note="single-pass membrane protein with coiled-coil
                     domains 3"
                     /db_xref="GeneID:440087"
                     /db_xref="HGNC:HGNC:34401"
     misc_feature    17..19
                     /gene="SMCO3"
                     /gene_synonym="C12orf69"
                     /note="upstream in-frame stop codon"
     CDS             74..751
                     /gene="SMCO3"
                     /gene_synonym="C12orf69"
                     /codon_start=1
                     /product="single-pass membrane and coiled-coil
                     domain-containing protein 3"
                     /protein_id="NP_001013720.2"
                     /db_xref="CCDS:CCDS41759.1"
                     /db_xref="GeneID:440087"
                     /db_xref="HGNC:HGNC:34401"
                     /translation="MAQSDFLYPENPKRREEVNRLHQQLLDCLSDSFDVTNKLTEVLNM
                     HLGCRLASIEMKRDGTIKENCDLIIQAIMKIQKELQKVDEALKDKLEPTLYRKLQDIKE
                     KETDKIAIVQKVISVILGEATSAASAVAVKLVGSNVTTGIINKLVTVLAQIGASLLGSI
                     GVAVLGLGIDMIVRAILGAVEKTQLQAAIKSYEKHLVEFKSASEKYNHAITEVINTVKH
                     QMK"
     misc_feature    536..598
                     /gene="SMCO3"
                     /gene_synonym="C12orf69"
                     /note="propagated from UniProtKB/Swiss-Prot (A2RU48.1);
                     transmembrane region"
     regulatory      1077..1082
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMCO3"
                     /gene_synonym="C12orf69"
                     /note="hexamer: AGTAAA"
     polyA_site      1096
                     /gene="SMCO3"
                     /gene_synonym="C12orf69"
                     /note="major polyA site"
     regulatory      1900..1905
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMCO3"
                     /gene_synonym="C12orf69"
                     /note="hexamer: AATAAA"
     polyA_site      1928
                     /gene="SMCO3"
                     /gene_synonym="C12orf69"
                     /note="major polyA site"
ORIGIN
        1 actttaacaa tactcctaaa caactgctag gaccacggaa ctcagaaaca cagcaagcga
       61 tcatattgga aatatggccc aaagtgactt cctttaccca gagaacccaa aaaggcggga
      121 agaagtaaat cgtcttcacc agcagcttct tgattgctta tctgacagct tcgatgtcac
      181 caataagctg actgaggttc taaatatgca cttggggtgc aggctggcct ccattgagat
      241 gaaaagagat gggaccatca aagaaaactg tgacctcatc atccaagcca ttatgaaaat
      301 ccaaaaggaa ttgcagaagg ttgatgaagc actaaaagat aagctagagc caaccctcta
      361 tagaaaactt caggatatta aggaaaagga aacagacaaa attgcaatag tgcaaaaggt
      421 tatttcggtc atcctgggag aagctacatc tgcagccagt gcagtcgctg ttaaacttgt
      481 gggctcaaat gtcacaactg gcataattaa caagttggtc actgtgttag ctcaaattgg
      541 tgcttctctc cttggtagta ttggagttgc tgttcttggc cttggcatag atatgattgt
      601 ccgtgccatc ctgggagcag tggaaaaaac acagcttcaa gcagccatca aaagttatga
      661 gaagcatctg gtggagttca aatcagcctc agaaaaatat aatcatgcca ttactgaggt
      721 catcaataca gtgaaacacc aaatgaaatg aacagccgtt ttatttgcca ctgaagtgtt
      781 tttctgcttc cttttcagta acagtgtttg cttctttgat taggttcatt ttctataggc
      841 ttccaatatg gacttaaata agataaacaa tttggagagg gaaactggag atgccaagac
      901 tagatgacta gatgagtttt gagtcaacaa tgcctggatc agctgatgct agaccctgtg
      961 aggtaaaaaa attttctccc tggatgtttt cacaccctgc tctaccagat caacattggg
     1021 gtaaatgcta tcgtagagta gcaagtatag gggttacttt tctcttttct aatttcagta
     1081 aaattcttaa atttcacatt gaatgcagag actttcattt ctaccaccag cttcaaacat
     1141 catttagtta taaggggaca tactcagtaa cttctgccta gacacaaact ctaggccttc
     1201 gaatgagaca gaaatactac catatttttg accatcagag taaatctggt tttctgtaaa
     1261 ctagaagaga ctgaaaaatg gtttgtaaca atgtgcttca attaggacag gaagctgatc
     1321 tgtaaacgtc tactgattac acaatgtaaa ccggatggat ttgaaaatgg taaaaatcaa
     1381 aactaaaaac atcaaggtcc tgtttcagtc actgcaatca accctgacca actgtgataa
     1441 ttaaatatcg ctcaagtgaa tgttcaaaca ctgaaacatt tagaagacaa gaaagcaaaa
     1501 cacagctaca catattgcat ttaggatgca gaatagaagg tcactactca aagcatttgt
     1561 catttaaaag aaagtcataa tttattataa gctttcagaa aaaagaatat aatttcattt
     1621 tcaacactag caaaaaggag gcagctgcct ttgctacatg acgcattagg tgggccattt
     1681 cactaattac ctgattttag aaaacgccaa aggctatgga agcctattaa tggttccgct
     1741 gaatctctgc agatgtgttt gttttctaaa tcctttgcca accaataatt cccatgagga
     1801 ctcttttagt ctatactgac aaaattatta atatgctgtt gatgccagac tgtgtttgtt
     1861 atagttgatt ctcccatcca agtacaagaa atgtattgaa ataaaaactg ctcagcatat
     1921 cttaaaaata gtagctacat ataaaatttt agctacatga aagactttaa tatttccaac
     1981 atacactgtt ttctctttct cttcttgcat tgtttttcaa aacgagttgc aaaactatga
     2041 tcactaatgt gttaggaaag aaaaaaaact agttgcaaaa cattacaact tagctcacct
     2101 tcgc
//
LOCUS       NM_001013699            1114 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens H3.5 histone (H3-5), mRNA.
ACCESSION   NM_001013699
VERSION     NM_001013699.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1114)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1114)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1114)
  AUTHORS   Shiraishi K, Shindo A, Harada A, Kurumizaka H, Kimura H, Ohkawa Y
            and Matsuyama H.
  TITLE     Roles of histone H3.5 in human spermatogenesis and spermatogenic
            disorders
  JOURNAL   Andrology 6 (1), 158-165 (2018)
   PUBMED   29179259
  REMARK    GeneRIF: H3.5 may play roles in DNA synthesis, but not apoptosis,
            and its expression is regulated by gonadotropins
REFERENCE   4  (bases 1 to 1114)
  AUTHORS   Urahama T, Harada A, Maehara K, Horikoshi N, Sato K, Sato Y,
            Shiraishi K, Sugino N, Osakabe A, Tachiwana H, Kagawa W, Kimura H,
            Ohkawa Y and Kurumizaka H.
  TITLE     Histone H3.5 forms an unstable nucleosome and accumulates around
            transcription start sites in human testis
  JOURNAL   Epigenetics Chromatin 9, 2 (2016)
   PUBMED   26779285
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1114)
  AUTHORS   Sadakierska-Chudy A, Kostrzewa RM and Filip M.
  TITLE     A comprehensive view of the epigenetic landscape part I: DNA
            methylation, passive and active DNA demethylation pathways and
            histone variants
  JOURNAL   Neurotox Res 27 (1), 84-97 (2015)
   PUBMED   25362550
  REMARK    Review article
REFERENCE   6  (bases 1 to 1114)
  AUTHORS   Schenk R, Jenke A, Zilbauer M, Wirth S and Postberg J.
  TITLE     H3.5 is a novel hominid-specific histone H3 variant that is
            specifically expressed in the seminiferous tubules of human testes
  JOURNAL   Chromosoma 120 (3), 275-285 (2011)
   PUBMED   21274551
  REMARK    GeneRIF: H3.5 preferentially colocalizes with euchromatin, and it is
            associated with actively transcribed genes and can replace an
            essential function of RNAi-depleted H3.3 in cell growth.
REFERENCE   7  (bases 1 to 1114)
  AUTHORS   Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha
            S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson
            AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ,
            Metzker ML, Milosavljevic A, Miner GR, Montgomery KT, Morgan MB,
            Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Lovering RC,
            Wheeler DA, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA,
            Ayele M, Brown MJ, Chen G, Chen Z, Clerc-Blankenburg KP, Davis C,
            Delgado O, Dinh HH, Draper H, Gonzalez-Garay ML, Havlak P, Jackson
            LR, Jacob LS, Kelly SH, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari
            M, Nguyen BV, Okwuonu GO, Pasternak S, Perez LM, Plopper FJ,
            Santibanez J, Shen H, Tabor PE, Verduzco D, Waldron L, Wang Q,
            Williams GA, Zhang J, Zhou J, Allen CC, Amin AG, Anyalebechi V,
            Bailey M, Barbaria JA, Bimage KE, Bryant NP, Burch PE, Burkett CE,
            Burrell KL, Calderon E, Cardenas V, Carter K, Casias K, Cavazos I,
            Cavazos SR, Ceasar H, Chacko J, Chan SN, Chavez D, Christopoulos C,
            Chu J, Cockrell R, Cox CD, Dang M, Dathorne SR, David R, Davis CM,
            Davy-Carroll L, Deshazo DR, Donlin JE, D'Souza L, Eaves KA, Egan A,
            Emery-Cohen AJ, Escotto M, Flagg N, Forbes LD, Gabisi AM, Garza M,
            Hamilton C, Henderson N, Hernandez O, Hines S, Hogues ME, Huang M,
            Idlebird DG, Johnson R, Jolivet A, Jones S, Kagan R, King LM, Leal
            B, Lebow H, Lee S, LeVan JM, Lewis LC, London P, Lorensuhewa LM,
            Loulseged H, Lovett DA, Lucier A, Lucier RL, Ma J, Madu RC, Mapua P,
            Martindale AD, Martinez E, Massey E, Mawhiney S, Meador MG, Mendez
            S, Mercado C, Mercado IC, Merritt CE, Miner ZL, Minja E, Mitchell T,
            Mohabbat F, Mohabbat K, Montgomery B, Moore N, Morris S, Munidasa M,
            Ngo RN, Nguyen NB, Nickerson E, Nwaokelemeh OO, Nwokenkwo S, Obregon
            M, Oguh M, Oragunye N, Oviedo RJ, Parish BJ, Parker DN, Parrish J,
            Parks KL, Paul HA, Payton BA, Perez A, Perrin W, Pickens A, Primus
            EL, Pu LL, Puazo M, Quiles MM, Quiroz JB, Rabata D, Reeves K, Ruiz
            SJ, Shao H, Sisson I, Sonaike T, Sorelle RP, Sutton AE, Svatek AF,
            Svetz LA, Tamerisa KS, Taylor TR, Teague B, Thomas N, Thorn RD,
            Trejos ZY, Trevino BK, Ukegbu ON, Urban JB, Vasquez LI, Vera VA,
            Villasana DM, Wang L, Ward-Moore S, Warren JT, Wei X, White F,
            Williamson AL, Wleczyk R, Wooden HS, Wooden SH, Yen J, Yoon L, Yoon
            V, Zorrilla SE, Nelson D, Kucherlapati R, Weinstock G and Gibbs RA.
  CONSRTM   Baylor College of Medicine Human Genome Sequencing Center Sequence
            Production Team
  TITLE     The finished DNA sequence of human chromosome 12
  JOURNAL   Nature 440 (7082), 346-351 (2006)
   PUBMED   16541075
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: HQ873957.1, BC066906.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000340398.5/ ENSP00000339835.3
            RefSeq Select criteria :: based on single protein-coding transcript
            replication-independent histone :: PMID: 21274551
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC023050.36.
            On Nov 23, 2018 this sequence version replaced NM_001013699.2.
            Summary: Histones are basic nuclear proteins that are responsible
            for the nucleosome structure of the chromosomal fiber in
            eukaryotes. Nucleosomes consist of approximately 146 bp of DNA
            wrapped around a histone octamer composed of pairs of each of the
            four core histones (H2A, H2B, H3, and H4). The chromatin fiber is
            further compacted through the interaction of a linker histone, H1,
            with the DNA between the nucleosomes to form higher order chromatin
            structures. This gene contains introns and its mRNA is
            polyadenylated, unlike most histone genes. The protein encoded by
            this gene is a replication-independent histone that is a member of
            the histone H3 family. [provided by RefSeq, Oct 2015].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1114
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     gene            1..1114
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="H3.5 histone"
                     /db_xref="GeneID:440093"
                     /db_xref="HGNC:HGNC:33164"
                     /db_xref="MIM:616134"
     misc_feature    124..126
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="upstream in-frame stop codon"
     CDS             133..540
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="histone variant H3.5; histone H3.5; H3 histone,
                     family 3C; H3 histone family member 3C"
                     /codon_start=1
                     /product="histone H3.3C"
                     /protein_id="NP_001013721.2"
                     /db_xref="CCDS:CCDS31769.1"
                     /db_xref="GeneID:440093"
                     /db_xref="HGNC:HGNC:33164"
                     /db_xref="MIM:616134"
                     /translation="MARTKQTARKSTGGKAPRKQLATKAARKSTPSTCGVKPHRYRPGT
                     VALREIRRYQKSTELLIRKLPFQRLVREIAQDFNTDLRFQSAAVGALQEASEAYLVGLL
                     EDTNLCAIHAKRVTIMPKDIQLARRIRGERA"
     misc_feature    133..255
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NXT2.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    139..141
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="Asymmetric dimethylarginine, by PRMT6, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); methylation site"
     misc_feature    142..144
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="Phosphothreonine, by HASPIN.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); phosphorylation site"
     misc_feature    145..147
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68431;
                     N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68431; N6-methyllysine,
                     alternate. /evidence=ECO:0000250|UniProtKB:P68431;
                     propagated from UniProtKB/Swiss-Prot (Q6NXT2.3);
                     methylation site"
     misc_feature    145..147
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); acetylation site"
     misc_feature    151..153
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="Phosphothreonine, by PKC.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); phosphorylation site"
     misc_feature    157..159
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="Symmetric dimethylarginine, by PRMT5, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68433; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); methylation site"
     misc_feature    160..162
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68432;
                     N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68432; N6-methyllysine,
                     alternate. /evidence=ECO:0000250|UniProtKB:P68432;
                     propagated from UniProtKB/Swiss-Prot (Q6NXT2.3);
                     methylation site"
     misc_feature    160..162
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); acetylation site"
     misc_feature    163..165
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="Phosphoserine, alternate, by AURKB, AURKC, RPS6KA3,
                     RPS6KA4 and RPS6KA5.
                     /evidence=ECO:0000250|UniProtKB:P68432; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); phosphorylation site"
     misc_feature    166..168
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="Phosphothreonine, by PKC.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); phosphorylation site"
     misc_feature    175..177
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68432; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); acetylation site"
     misc_feature    184..186
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="Asymmetric dimethylarginine, by CARM1, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); methylation site"
     misc_feature    187..189
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); acetylation site"
     misc_feature    187..189
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); methylation site"
     misc_feature    202..204
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68432; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); acetylation site"
     misc_feature    202..204
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); methylation site"
     misc_feature    214..216
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68432;
                     N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68432; N6-methyllysine,
                     alternate. /evidence=ECO:0000250|UniProtKB:P68432;
                     propagated from UniProtKB/Swiss-Prot (Q6NXT2.3);
                     methylation site"
     misc_feature    214..216
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); acetylation site"
     misc_feature    217..219
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="Phosphoserine, alternate, by AURKB, AURKC and
                     RPS6KA5. /evidence=ECO:0000250|UniProtKB:P68432; propagated
                     from UniProtKB/Swiss-Prot (Q6NXT2.3); phosphorylation site"
     misc_feature    226..228
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P84243; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); phosphorylation site"
     misc_feature    241..243
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6-methyllysine.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); methylation site"
     misc_feature    253..255
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); phosphorylation site"
     misc_feature    298..300
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68431; N6-methyllysine, by
                     EHMT2, alternate. /evidence=ECO:0000250|UniProtKB:P68431;
                     propagated from UniProtKB/Swiss-Prot (Q6NXT2.3);
                     methylation site"
     misc_feature    298..300
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); acetylation site"
     misc_feature    301..303
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:20850016; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); phosphorylation site"
     misc_feature    322..324
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); methylation site"
     misc_feature    370..372
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:20850016; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); phosphorylation site"
     misc_feature    388..390
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P84243; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); phosphorylation site"
     misc_feature    451..453
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q71DI3; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); phosphorylation site"
     misc_feature    475..477
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); acetylation site"
     misc_feature    496..498
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); acetylation site"
     misc_feature    496..498
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P68431; propagated from
                     UniProtKB/Swiss-Prot (Q6NXT2.3); methylation site"
     regulatory      864..869
                     /regulatory_class="polyA_signal_sequence"
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="hexamer: AATAAA"
     polyA_site      885
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
     regulatory      1093..1098
                     /regulatory_class="polyA_signal_sequence"
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="hexamer: ATTAAA"
     polyA_site      1114
                     /gene="H3-5"
                     /gene_synonym="H3.3C; H3.5; H3F3C"
                     /note="major polyA site"
ORIGIN
        1 ggcgcagagc ggtttggtcg ttcgttggac cagtgtcggt tcttcgctcg cgactgcggc
       61 tcttcctcgg gcagcggaag cagcgcggag gtcggagaag tggcctaaaa cttcggcgtt
      121 gggtgaaaga aaatggcccg aaccaagcag actgctcgta aatccaccgg tgggaaagcc
      181 ccccgcaaac agctggccac gaaagctgcc aggaaaagca ccccctctac ctgcggggtg
      241 aagcctcatc gctacaggcc tgggaccgtg gcgcttcgag agattcgtcg ttatcagaag
      301 tcgaccgagc tgctcatccg gaagctgccc ttccagaggt tggtgaggga gatcgcgcag
      361 gatttcaaca ctgacctgag gtttcagagc gcagccgtcg gtgcgctgca ggaggctagc
      421 gaagcgtacc tggtgggtct gttggaagat actaacctgt gtgccatcca cgctaagaga
      481 gtcaccatca tgcccaaaga catccagttg gctcgccgga tacggggaga gagagcttaa
      541 gtgaaggcag tttttatggc attttgtagt aaattctgta aaatactttg gtttaattgg
      601 tgactttttt tgtaagaaat tgtttatatg ttgcatttgt acttaagtca ttccatcttt
      661 cactcaggat gaatgcgaaa agtgactgtt tacagacctc agtgatgtca gcactgttgc
      721 tcaggagtga caagttgtta atatgcaaaa cggatgcgtg atatttcttg cttctcatga
      781 tgcatgtttc tgtatgttaa tgacttgttg ggtagctatt aaggtactag aattgataaa
      841 tgtgtacaac agggtccttt tgcaataaaa ctggttatga cttgatccaa gtgtttaaca
      901 attggggctg ttaagtctga ccatacatca ctgtgataga atgtaggctt tttcaagggt
      961 gaagatacaa accttaacca cagtgtaact tatagtttcc tttaaaaaaa aaaaattaaa
     1021 cctggcagct atagaataca atatgtgcat ttataatagc tattttatat attgtagtgt
     1081 caacattttc aaattaaatg ttttacattc acaa
//
LOCUS       NM_001013703            5538 bp    mRNA    linear   PRI 26-JUL-2023
DEFINITION  Homo sapiens eukaryotic translation initiation factor 2 alpha kinase
            4 (EIF2AK4), mRNA.
ACCESSION   NM_001013703
VERSION     NM_001013703.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5538)
  AUTHORS   Kumar A, Subramani C, Raj S, Ranjith-Kumar CT and Surjit M.
  TITLE     Hepatitis E Virus Protease Inhibits the Activity of Eukaryotic
            Initiation Factor 2-Alpha Kinase 4 and Promotes Virus Survival
  JOURNAL   J Virol 97 (6), e0034723 (2023)
   PUBMED   37199644
  REMARK    GeneRIF: Hepatitis E Virus Protease Inhibits the Activity of
            Eukaryotic Initiation Factor 2-Alpha Kinase 4 and Promotes Virus
            Survival.
REFERENCE   2  (bases 1 to 5538)
  AUTHORS   Knowles CM, Goich D, Bloom ALM, Kalem MC and Panepinto JC.
  TITLE     Contributions of Ccr4 and Gcn2 to the Translational Response of C.
            neoformans to Host-Relevant Stressors and Integrated Stress Response
            Induction
  JOURNAL   mBio 14 (2), e0019623 (2023)
   PUBMED   37017529
  REMARK    GeneRIF: Contributions of Ccr4 and Gcn2 to the Translational
            Response of C. neoformans to Host-Relevant Stressors and Integrated
            Stress Response Induction.
REFERENCE   3  (bases 1 to 5538)
  AUTHORS   Jonas K, Zulawinska B, Borys A, Wolkow P, Malecki M and Kopec G.
  TITLE     A new mutation in the EIF2AK4 gene in familial pulmonary
            veno-occlusive disease
  JOURNAL   Pol Arch Intern Med 133 (3) (2023)
   PUBMED   36633383
  REMARK    GeneRIF: A new mutation in the EIF2AK4 gene in familial pulmonary
            veno-occlusive disease.
REFERENCE   4  (bases 1 to 5538)
  AUTHORS   Zhao C, Guo H, Hou Y, Lei T, Wei D and Zhao Y.
  TITLE     Multiple Roles of the Stress Sensor GCN2 in Immune Cells
  JOURNAL   Int J Mol Sci 24 (5), 4285 (2023)
   PUBMED   36901714
  REMARK    GeneRIF: Multiple Roles of the Stress Sensor GCN2 in Immune Cells.
            Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5538)
  AUTHORS   Khoury S, Beauvais A, Colas J, Saint-Martin Willer A, Perros F,
            Humbert M, Vandebrouck C, Montani D, Ferreira T and Antigny F.
  TITLE     Lipidomic Profile Analysis of Lung Tissues Revealed Lipointoxication
            in Pulmonary Veno-Occlusive Disease
  JOURNAL   Biomolecules 12 (12), 1878 (2022)
   PUBMED   36551306
  REMARK    GeneRIF: Lipidomic Profile Analysis of Lung Tissues Revealed
            Lipointoxication in Pulmonary Veno-Occlusive Disease. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 5538)
  AUTHORS   Dey M, Cao C, Sicheri F and Dever TE.
  TITLE     Conserved intermolecular salt bridge required for activation of
            protein kinases PKR, GCN2, and PERK
  JOURNAL   J Biol Chem 282 (9), 6653-6660 (2007)
   PUBMED   17202131
REFERENCE   7  (bases 1 to 5538)
  AUTHORS   Berlanga JJ, Ventoso I, Harding HP, Deng J, Ron D, Sonenberg N,
            Carrasco L and de Haro C.
  TITLE     Antiviral effect of the mammalian translation initiation factor
            2alpha kinase GCN2 against RNA viruses
  JOURNAL   EMBO J 25 (8), 1730-1740 (2006)
   PUBMED   16601681
REFERENCE   8  (bases 1 to 5538)
  AUTHORS   Costa-Mattioli M, Gobert D, Harding H, Herdy B, Azzi M, Bruno M,
            Bidinosti M, Ben Mamou C, Marcinkiewicz E, Yoshida M, Imataka H,
            Cuello AC, Seidah N, Sossin W, Lacaille JC, Ron D, Nader K and
            Sonenberg N.
  TITLE     Translational control of hippocampal synaptic plasticity and memory
            by the eIF2alpha kinase GCN2
  JOURNAL   Nature 436 (7054), 1166-1173 (2005)
   PUBMED   16121183
REFERENCE   9  (bases 1 to 5538)
  AUTHORS   Zhang P, McGrath BC, Reinert J, Olsen DS, Lei L, Gill S, Wek SA,
            Vattem KM, Wek RC, Kimball SR, Jefferson LS and Cavener DR.
  TITLE     The GCN2 eIF2alpha kinase is required for adaptation to amino acid
            deprivation in mice
  JOURNAL   Mol Cell Biol 22 (19), 6681-6688 (2002)
   PUBMED   12215525
REFERENCE   10  (bases 1 to 5538)
  AUTHORS   Berlanga JJ, Santoyo J and De Haro C.
  TITLE     Characterization of a mammalian homolog of the GCN2 eukaryotic
            initiation factor 2alpha kinase
  JOURNAL   Eur J Biochem 265 (2), 754-762 (1999)
   PUBMED   10504407
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000263791.10/ ENSP00000263791.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012377.5, CN286138.1,
            BC078179.1, AB037759.1, BC014915.1, BC009350.2 and AL157497.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001013703.3.
            Summary: This gene encodes a member of a family of kinases that
            phosphorylate the alpha subunit of eukaryotic translation
            initiation factor-2 (EIF2), resulting in the downregulaton of
            protein synthesis. The encoded protein responds to amino acid
            deprivation by binding uncharged transfer RNAs. It may also be
            activated by glucose deprivation and viral infection. Mutations in
            this gene have been found in individuals suffering from autosomal
            recessive pulmonary venoocclusive-disease-2. [provided by RefSeq,
            Mar 2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5538
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     gene            1..5538
                     /gene="EIF2AK4"
                     /gene_synonym="GCN2; PVOD2"
                     /note="eukaryotic translation initiation factor 2 alpha
                     kinase 4"
                     /db_xref="GeneID:440275"
                     /db_xref="HGNC:HGNC:19687"
                     /db_xref="MIM:609280"
     CDS             82..5031
                     /gene="EIF2AK4"
                     /gene_synonym="GCN2; PVOD2"
                     /EC_number="2.7.11.1"
                     /note="GCN2 eIF2alpha kinase; GCN2-like protein; general
                     control nonderepressible 2"
                     /codon_start=1
                     /product="eIF-2-alpha kinase GCN2"
                     /protein_id="NP_001013725.2"
                     /db_xref="CCDS:CCDS42016.1"
                     /db_xref="GeneID:440275"
                     /db_xref="HGNC:HGNC:19687"
                     /db_xref="MIM:609280"
                     /translation="MAGGRGAPGRGRDEPPESYPQRQDHELQALEAIYGADFQDLRPDA
                     CGPVKEPPEINLVLYPQGLTGEEVYVKVDLRVKCPPTYPDVVPEIELKNAKGLSNESVN
                     LLKSRLEELAKKHCGEVMIFELAYHVQSFLSEHNKPPPKSFHEEMLERRAQEEQQRLLE
                     AKRKEEQEQREILHEIQRRKEEIKEEKKRKEMAKQERLEIASLSNQDHTSKKDPGGHRT
                     AAILHGGSPDFVGNGKHRANSSGRSRRERQYSVCNSEDSPGSCEILYFNMGSPDQLMVH
                     KGKCIGSDEQLGKLVYNALETATGGFVLLYEWVLQWQKKMGPFLTSQEKEKIDKCKKQI
                     QGTETEFNSLVKLSHPNVVRYLAMNLKEQDDSIVVDILVEHISGVSLAAHLSHSGPIPV
                     HQLRRYTAQLLSGLDYLHSNSVVHKVLSASNVLVDAEGTVKITDYSISKRLADICKEDV
                     FEQTRVRFSDNALPYKTGKKGDVWRLGLLLLSLSQGQECGEYPVTIPSDLPADFQDFLK
                     KCVCLDDKERWSPQQLLKHSFINPQPKMPLVEQSPEDSEGQDYVETVIPSNRLPSAAFF
                     SETQRQFSRYFIEFEELQLLGKGAFGAVIKVQNKLDGCCYAVKRIPINPASRQFRRIKG
                     EVTLLSRLHHENIVRYYNAWIERHERPAGPGTPPPDSGPLAKDDRAARGQPASDTDGLD
                     SVEAAAPPPILSSSVEWSTSGERSASARFPATGPGSSDDEDDDEDEHGGVFSQSFLPAS
                     DSESDIIFDNEDENSKSQNQDEDCNEKNGCHESEPSVTTEAVHYLYIQMEYCEKSTLRD
                     TIDQGLYRDTVRLWRLFREILDGLAYIHEKGMIHRDLKPVNIFLDSDDHVKIGDFGLAT
                     DHLAFSADSKQDDQTGDLIKSDPSGHLTGMVGTALYVSPEVQGSTKSAYNQKVDLFSLG
                     IIFFEMSYHPMVTASERIFVLNQLRDPTSPKFPEDFDDGEHAKQKSVISWLLNHDPAKR
                     PTATELLKSELLPPPQMEESELHEVLHHTLTNVDGKAYRTMMAQIFSQRISPAIDYTYD
                     SDILKGNFSIRTAKMQQHVCETIIRIFKRHGAVQLCTPLLLPRNRQIYEHNEAALFMDH
                     SGMLVMLPFDLRIPFARYVARNNILNLKRYCIERVFRPRKLDRFHPKELLECAFDIVTS
                     TTNSFLPTAEIIYTIYEIIQEFPALQERNYSIYLNHTMLLKAILLHCGIPEDKLSQVYI
                     ILYDAVTEKLTRREVEAKFCNLSLSSNSLCRLYKFIEQKGDLQDLMPTINSLIKQKTGI
                     AQLVKYGLKDLEEVVGLLKKLGIKLQVLINLGLVYKVQQHNGIIFQFVAFIKRRQRAVP
                     EILAAGGRYDLLIPQFRGPQALGPVPTAIGVSIAIDKISAAVLNMEESVTISSCDLLVV
                     SVGQMSMSRAINLTQKLWTAGITAEIMYDWSQSQEELQEYCRHHEITYVALVSDKEGSH
                     VKVKSFEKERQTEKRVLETELVDHVLQKLRTKVTDERNGREASDNLAVQNLKGSFSNAS
                     GLFEIHGATVVPIVSVLAPEKLSASTRRRYETQVQTRLQTSLANLHQKSSEIEILAVDL
                     PKETILQFLSLEWDADEQAFNTTVKQLLSRLPKQRYLKLVCDEIYNIKVEKKVSVLFLY
                     SYRDDYYRILF"
     misc_feature    82..156
                     /gene="EIF2AK4"
                     /gene_synonym="GCN2; PVOD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2K8.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    493..555
                     /gene="EIF2AK4"
                     /gene_synonym="GCN2; PVOD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2K8.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    760..849
                     /gene="EIF2AK4"
                     /gene_synonym="GCN2; PVOD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2K8.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    769..771
                     /gene="EIF2AK4"
                     /gene_synonym="GCN2; PVOD2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9P2K8.3);
                     phosphorylation site"
     misc_feature    2059..2331
                     /gene="EIF2AK4"
                     /gene_synonym="GCN2; PVOD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2K8.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2080..2082
                     /gene="EIF2AK4"
                     /gene_synonym="GCN2; PVOD2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9P2K8.3);
                     phosphorylation site"
     misc_feature    2374..2445
                     /gene="EIF2AK4"
                     /gene_synonym="GCN2; PVOD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2K8.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2692..2694
                     /gene="EIF2AK4"
                     /gene_synonym="GCN2; PVOD2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P2K8.3); phosphorylation site"
     misc_feature    2776..2778
                     /gene="EIF2AK4"
                     /gene_synonym="GCN2; PVOD2"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000250|UniProtKB:Q9QZ05; propagated from
                     UniProtKB/Swiss-Prot (Q9P2K8.3); phosphorylation site"
     misc_feature    2791..2793
                     /gene="EIF2AK4"
                     /gene_synonym="GCN2; PVOD2"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (Q9P2K8.3); phosphorylation site"
     misc_feature    3145..4560
                     /gene="EIF2AK4"
                     /gene_synonym="GCN2; PVOD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2K8.3);
                     Region: Histidyl-tRNA synthetase-like"
     misc_feature    3856..3858
                     /gene="EIF2AK4"
                     /gene_synonym="GCN2; PVOD2"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9P2K8.3); acetylation site"
     regulatory      5521..5526
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EIF2AK4"
                     /gene_synonym="GCN2; PVOD2"
                     /note="hexamer: AATAAA"
     polyA_site      5538
                     /gene="EIF2AK4"
                     /gene_synonym="GCN2; PVOD2"
                     /note="major polyA site"
ORIGIN
        1 agcgcggagc cccgccccgc aggctgccgg gggcccaccg ccgcccaggc aaggccgccc
       61 tgccttgggc gcagcgctgc catggctggg ggccgtgggg cccccgggcg cggccgggac
      121 gagcctccgg agagctaccc gcaacgacag gaccacgagc tacaggccct ggaggccatt
      181 tacggcgcgg acttccaaga cctgcggccg gacgcttgcg gaccggtcaa agagccccct
      241 gaaatcaatt tagttttgta ccctcaaggc ctaactggtg aagaagtata tgtaaaagtg
      301 gatttgaggg ttaaatgccc acctacctat ccagatgtag ttcctgaaat agagttaaaa
      361 aatgccaaag gtctatcaaa tgaaagtgtc aatttgttaa aatctcgcct agaagaactg
      421 gccaagaaac actgtgggga ggtgatgatc tttgaactgg cttaccacgt gcagtcattt
      481 ctcagcgagc ataacaagcc ccctcccaag tcttttcatg aagaaatgct ggaaaggcgg
      541 gctcaggagg agcagcagag gctgttggag gccaagcgga aagaagagca ggagcaacgt
      601 gaaatcctgc atgagattca gagaaggaaa gaagagataa aagaagagaa aaaaaggaaa
      661 gaaatggcta agcaggaacg tttggaaatt gctagtttgt caaaccaaga tcatacctct
      721 aagaaggacc caggaggaca cagaacggct gccattctac atggaggctc tcctgacttt
      781 gtaggaaatg gtaaacatcg ggcaaactcc tcaggaaggt ctaggcgaga acgtcagtat
      841 tctgtatgta atagtgaaga ttctcctggc tcttgtgaaa ttctgtattt caatatgggg
      901 agtcctgatc agctcatggt gcacaaaggg aaatgtattg gcagtgatga acaacttgga
      961 aaattagtct acaatgcttt ggaaacagcc actggtggct ttgtcttgtt gtatgagtgg
     1021 gtccttcagt ggcagaaaaa aatgggtcca ttccttacca gtcaagaaaa agagaagatt
     1081 gataagtgca aaaagcagat tcaaggaaca gaaacagaat tcaactcact ggtaaaattg
     1141 agccatccaa atgtagtacg ctaccttgca atgaatctca aagagcaaga cgactccatc
     1201 gtggtggaca ttttagtgga gcacattagt ggggtctctc ttgctgcaca cctgagccac
     1261 tcaggcccca tccctgtgca tcagcttcgc aggtacacag ctcagctcct gtcaggcctt
     1321 gattatctgc acagcaattc tgtggtgcat aaggtcctga gtgcatctaa tgtcttggtg
     1381 gatgcagaag gcaccgtcaa gattacggac tatagcattt ctaagcgcct cgcagacatt
     1441 tgcaaggagg atgtgtttga gcaaacccga gttcgtttta gtgacaatgc tctgccttat
     1501 aaaacgggga agaaaggaga tgtttggcgt cttggccttc tgctgctgtc cctcagccaa
     1561 ggacaggaat gtggagagta ccctgtgacc atccctagtg acttaccagc tgactttcaa
     1621 gattttctaa agaaatgtgt gtgcttggat gacaaggaaa gatggagtcc ccagcagttg
     1681 ttgaaacaca gctttataaa tccccagcca aaaatgcctc tagtggaaca aagtcctgaa
     1741 gattctgaag gacaagatta tgttgagact gttattccta gcaaccggct acccagtgct
     1801 gccttcttta gtgagacaca gagacagttt tcccgatact tcattgagtt tgaagaatta
     1861 caacttcttg gtaaaggagc ttttggagct gtcatcaagg tgcagaacaa gttggacggc
     1921 tgctgctacg cagtgaagcg catccccatc aacccggcca gccggcagtt ccgcaggatc
     1981 aagggcgaag tgacactgct gtcacggctg caccatgaga acattgtgcg ctactacaac
     2041 gcctggatcg agcggcacga gcggccggcg ggaccgggga cgccgccccc ggactccggg
     2101 cccctggcca aggatgaccg agctgcacgc gggcagccgg cgagcgacac agacggcctg
     2161 gacagcgtag aggccgccgc gccgccaccc atcctcagca gctcggtgga gtggagcact
     2221 tcgggcgagc gctcggccag tgcccgtttc cccgccaccg gcccgggctc cagcgatgac
     2281 gaggacgacg acgaggacga gcacggtggc gtcttctccc agtccttcct gcctgcttca
     2341 gattctgaaa gtgatattat ctttgacaat gaagatgaga acagtaaaag tcagaatcag
     2401 gatgaagatt gcaatgaaaa gaatggctgc catgaaagtg agccatcagt gacgactgag
     2461 gctgtgcact acctatacat ccagatggag tactgtgaga agagcacttt acgagacacc
     2521 attgaccagg gactgtatcg agacaccgtc agactctgga ggctttttcg agagattctg
     2581 gatggattag cttatatcca tgagaaagga atgattcacc gggatttgaa gcctgtcaac
     2641 atttttttgg attctgatga ccatgtgaaa ataggtgatt ttggtttggc gacagaccat
     2701 ctagcctttt ctgctgacag caaacaagac gatcagacag gagacttgat taagtcagac
     2761 ccttcaggtc acttaactgg gatggttggc actgctctct atgtaagccc agaggtccaa
     2821 ggaagcacca aatctgcata caaccagaaa gtggatctct tcagcctggg aattatcttc
     2881 tttgagatgt cctatcaccc catggtcacg gcttcagaaa ggatctttgt tctcaaccaa
     2941 ctcagagatc ccacttcgcc taagtttcca gaagactttg acgatggaga gcatgcaaag
     3001 cagaaatcag tcatctcctg gctgttgaac cacgatccag caaaacggcc cacagccaca
     3061 gaactgctca agagtgagct gctgccccca ccccagatgg aggagtcaga gctgcatgaa
     3121 gtgctgcacc acacgctgac caacgtggat gggaaggcct accgcaccat gatggcccag
     3181 atcttctcgc agcgcatctc ccctgccatc gattacacct atgacagcga catactgaag
     3241 ggcaacttct caatccgtac agccaagatg cagcagcatg tgtgtgaaac catcatccgc
     3301 atctttaaaa gacatggagc tgttcagttg tgtactccac tactgcttcc ccgaaacaga
     3361 caaatatatg agcacaacga agctgcccta ttcatggacc acagcgggat gctggtgatg
     3421 cttccttttg acctgcggat cccttttgca agatatgtgg caagaaataa tatattgaat
     3481 ttaaaacgat actgcataga acgtgtgttc aggccgcgca agttagatcg atttcatccc
     3541 aaagaacttc tggagtgtgc atttgatatt gtcacttcta ccaccaacag ctttctgccc
     3601 actgctgaaa ttatctacac tatctatgaa atcatccaag agtttccagc acttcaggaa
     3661 agaaattaca gtatttattt gaaccatacc atgttattga aagcaatact cttacactgt
     3721 gggatcccag aagataaact cagtcaagtc tacattattc tgtatgatgc tgtgacagag
     3781 aagctgacga ggagagaagt ggaagctaaa ttttgtaatc tgtctttgtc ttctaatagt
     3841 ctgtgtcgac tctacaagtt tattgaacag aagggagatt tgcaagatct tatgccaaca
     3901 ataaattcat taataaaaca gaaaacaggt attgcacagt tggtgaagta tggcttaaaa
     3961 gacctagagg aggttgttgg actgttgaag aaactcggca tcaagttaca ggtcttgatc
     4021 aatttgggct tggtttacaa ggtgcagcag cacaatggaa tcatcttcca gtttgtggct
     4081 ttcatcaaac gaaggcaaag ggctgtacct gaaatcctcg cagctggagg cagatatgac
     4141 ctgctgattc cccagtttag agggccacaa gctctggggc cagttcccac tgccattggg
     4201 gtcagcatag ctatagacaa gatatctgct gctgtcctca acatggagga atctgttaca
     4261 ataagctctt gtgacctcct ggttgtaagt gttggccaga tgtctatgtc cagggccatc
     4321 aacctaaccc agaaactctg gacagcaggc atcacagcag aaatcatgta cgactggtca
     4381 cagtcccaag aggaattaca agagtactgc agacatcatg aaatcaccta tgtggccctt
     4441 gtctcggata aagaaggaag ccatgtcaag gttaagtctt tcgagaagga aaggcagaca
     4501 gagaagcgtg tgctggagac tgaacttgtg gaccatgtac tgcagaaact gaggactaaa
     4561 gtcactgatg aaaggaatgg cagagaagct tccgataatc ttgcagtgca aaatctgaag
     4621 gggtcatttt ctaatgcttc aggtttgttt gaaatccatg gagcaacagt ggttcccatt
     4681 gtgagtgtgc tagccccgga gaagctgtca gccagcacta ggaggcgcta tgaaactcag
     4741 gtacaaactc gacttcagac ctcccttgcc aacttacatc agaaaagcag tgaaattgaa
     4801 attctggctg tggatctacc caaagaaaca atattacagt ttttatcatt agagtgggat
     4861 gctgatgaac aggcatttaa cacaactgtg aagcagctgc tgtcacgcct gccaaagcaa
     4921 agatacctca aattagtctg tgatgaaatt tataacatca aagtagaaaa aaaggtgtct
     4981 gtgctatttc tgtacagcta tagagatgac tactacagaa tcttatttta accctaaaga
     5041 actgtcgtta acctcattca aacagacaga ggcttatact ggaataatgg aatgttgtac
     5101 attcatcata atttaaaatt aaattctaag aagaggctgg gtgcagtggc tcacaccttt
     5161 aatcccagca ctttgggaag ccaaggcagg aagactgctt gaaaccagga gtttgagacc
     5221 agcctgagca acaaagcaag accccatctc tataaaaact aaaaaaatta gttgggcatg
     5281 gtggcacatg cctgtagtcc cagctactcc agaggctgag atggatcatc tgagcctcag
     5341 gaggttgagg ctgcagtgag ctgtgactgc gccactgcac tccagtctgg gacaacagag
     5401 caagaccctg tcttaaaaaa aaaaagaaaa aaaaaatttt tttctaagaa gctgtcctac
     5461 aaagttgagc tttgttagtt tttcatgtgt aatatattat aaatttatct tttgggatat
     5521 aataaatgct ttcatata
//
LOCUS       NM_001013706            2470 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens perilipin 5 (PLIN5), mRNA.
ACCESSION   NM_001013706
VERSION     NM_001013706.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2470)
  AUTHORS   Miner GE, So CM, Edwards W, Ragusa JV, Wine JT, Wong Gutierrez D,
            Airola MV, Herring LE, Coleman RA, Klett EL and Cohen S.
  TITLE     PLIN5 interacts with FATP4 at membrane contact sites to promote
            lipid droplet-to-mitochondria fatty acid transport
  JOURNAL   Dev Cell 58 (14), 1250-1265 (2023)
   PUBMED   37290445
  REMARK    GeneRIF: PLIN5 interacts with FATP4 at membrane contact sites to
            promote lipid droplet-to-mitochondria fatty acid transport.
REFERENCE   2  (bases 1 to 2470)
  AUTHORS   Ethem I and Hacioglu C.
  TITLE     Effects of perilipin-5 on lipid metabolism and high-sensitivity
            cardiac troponin I
  JOURNAL   Rev Assoc Med Bras (1992) 68 (8), 1011-1016 (2022)
   PUBMED   36134829
  REMARK    GeneRIF: Effects of perilipin-5 on lipid metabolism and
            high-sensitivity cardiac troponin I.
REFERENCE   3  (bases 1 to 2470)
  AUTHORS   Fachada V, Rahkila P, Fachada N, Turpeinen T, Kujala UM and
            Kainulainen H.
  TITLE     Enlarged PLIN5-uncoated lipid droplets in inner regions of skeletal
            muscle type II fibers associate with type 2 diabetes
  JOURNAL   Acta Histochem 124 (3), 151869 (2022)
   PUBMED   35220055
  REMARK    GeneRIF: Enlarged PLIN5-uncoated lipid droplets in inner regions of
            skeletal muscle type II fibers associate with type 2 diabetes.
REFERENCE   4  (bases 1 to 2470)
  AUTHORS   Zhang X, Xu W, Xu R, Wang Z, Zhang X, Wang P, Peng K, Li M, Li J,
            Tan Y, Wang X and Pei H.
  TITLE     Plin5 Bidirectionally Regulates Lipid Metabolism in Oxidative
            Tissues
  JOURNAL   Oxid Med Cell Longev 2022, 4594956 (2022)
   PUBMED   35401929
  REMARK    GeneRIF: Plin5 Bidirectionally Regulates Lipid Metabolism in
            Oxidative Tissues. Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2470)
  AUTHORS   Gemmink A, Daemen S, Brouwers B, Hoeks J, Schaart G, Knoops K,
            Schrauwen P and Hesselink MKC.
  TITLE     Decoration of myocellular lipid droplets with perilipins as a marker
            for in vivo lipid droplet dynamics: A super-resolution microscopy
            study in trained athletes and insulin resistant individuals
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1866 (2), 158852 (2021)
   PUBMED   33160079
  REMARK    GeneRIF: Decoration of myocellular lipid droplets with perilipins as
            a marker for in vivo lipid droplet dynamics: A super-resolution
            microscopy study in trained athletes and insulin resistant
            individuals.
REFERENCE   6  (bases 1 to 2470)
  AUTHORS   Wang H and Sztalryd C.
  TITLE     Oxidative tissue: perilipin 5 links storage with the furnace
  JOURNAL   Trends Endocrinol Metab 22 (6), 197-203 (2011)
   PUBMED   21632259
  REMARK    GeneRIF: Perilipin 5 is the most recently established family member,
            highly expressed in oxidative tissues and could play an important
            role in regulating LD TAG hydrolysis in oxidative mammalian tissues.
            [Review] Review article
REFERENCE   7  (bases 1 to 2470)
  AUTHORS   Wang H, Bell M, Sreenivasan U, Sreenevasan U, Hu H, Liu J, Dalen K,
            Londos C, Yamaguchi T, Rizzo MA, Coleman R, Gong D, Brasaemle D and
            Sztalryd C.
  TITLE     Unique regulation of adipose triglyceride lipase (ATGL) by perilipin
            5, a lipid droplet-associated protein
  JOURNAL   J Biol Chem 286 (18), 15707-15715 (2011)
   PUBMED   21393244
  REMARK    GeneRIF: interaction of ATGL with CGI-58 increased lipolysis,
            whereas interaction of ATGL with perilipin 5 decreased lipolysis.
            Erratum:[J Biol Chem. 2013 Apr 12;288(15):10952. Sreenevasan,
            Urmilla [corrected to Sreenivasan, Urmila]]
REFERENCE   8  (bases 1 to 2470)
  AUTHORS   Kimmel AR, Brasaemle DL, McAndrews-Hill M, Sztalryd C and Londos C.
  TITLE     Adoption of PERILIPIN as a unifying nomenclature for the mammalian
            PAT-family of intracellular lipid storage droplet proteins
  JOURNAL   J Lipid Res 51 (3), 468-471 (2010)
   PUBMED   19638644
  REMARK    Review article
REFERENCE   9  (bases 1 to 2470)
  AUTHORS   Minnaard R, Schrauwen P, Schaart G, Jorgensen JA, Lenaers E, Mensink
            M and Hesselink MK.
  TITLE     Adipocyte differentiation-related protein and OXPAT in rat and human
            skeletal muscle: involvement in lipid accumulation and type 2
            diabetes mellitus
  JOURNAL   J Clin Endocrinol Metab 94 (10), 4077-4085 (2009)
   PUBMED   19602560
  REMARK    GeneRIF: Results indicate involvement of OXPAT and ADRP in muscular
            lipid accumulation and type 2 diabetes.
REFERENCE   10  (bases 1 to 2470)
  AUTHORS   Dalen KT, Dahl T, Holter E, Arntsen B, Londos C, Sztalryd C and Nebb
            HI.
  TITLE     LSDP5 is a PAT protein specifically expressed in fatty acid
            oxidizing tissues
  JOURNAL   Biochim Biophys Acta 1771 (2), 210-227 (2007)
   PUBMED   17234449
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ839131.1, ERR279830.7446.1
            [ECO:0000332]
            RNAseq introns :: mixed/partial sample support SAMEA1966682,
            SAMEA1968189 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381848.7/ ENSP00000371272.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011498.7, BC033570.1, DQ839131.1, AW445065.1 and BX105717.1.
            On Nov 23, 2018 this sequence version replaced NM_001013706.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2470
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..2470
                     /gene="PLIN5"
                     /gene_synonym="LSDA5; LSDP5; MLDP; OXPAT"
                     /note="perilipin 5"
                     /db_xref="GeneID:440503"
                     /db_xref="HGNC:HGNC:33196"
                     /db_xref="MIM:613248"
     CDS             82..1473
                     /gene="PLIN5"
                     /gene_synonym="LSDA5; LSDP5; MLDP; OXPAT"
                     /note="lipid storage droplet protein 5"
                     /codon_start=1
                     /product="perilipin-5"
                     /protein_id="NP_001013728.2"
                     /db_xref="CCDS:CCDS42473.1"
                     /db_xref="GeneID:440503"
                     /db_xref="HGNC:HGNC:33196"
                     /db_xref="MIM:613248"
                     /translation="MSEEEAAQIPRSSVWEQDQQNVVQRVVALPLVRATCTAVCDVYSA
                     AKDRHPLLGSACRLAENCVCGLTTRALDHAQPLLEHLQPQLATMNSLACRGLDKLEEKL
                     PFLQQPSETVVTSAKDVVASSVTGVVDLARRGRRWSVELKRSVSHAVDVVLEKSEELVD
                     HFLPMTEEELAALAAEAEGPEVGSVEDQRRQQGYFVRLGSLSARIRHLAYEHSVGKLRQ
                     SKHRAQDTLAQLQETLELIDHMQCGVTPTAPACPGKVHELWGEWGQRPPESRRRSQAEL
                     ETLVLSRSLTQELQGTVEALESSVRGLPAGAQEKVAEVRRSVDALQTAFADARCFRDVP
                     AAALAEGRGRVAHAHACVDELLELVVQAVPLPWLVGPFAPILVERPEPLPDLADLVDEV
                     IGGPDPRWAHLDWPAQQRAWEAEHRDGSGNGDGDRMGVAGDICEQEPETPSCPVKHTLM
                     PELDF"
     misc_feature    82..600
                     /gene="PLIN5"
                     /gene_synonym="LSDA5; LSDP5; MLDP; OXPAT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00G26.2);
                     Region: Essential for lipid droplet targeting.
                     /evidence=ECO:0000250"
     misc_feature    82..405
                     /gene="PLIN5"
                     /gene_synonym="LSDA5; LSDP5; MLDP; OXPAT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00G26.2);
                     Region: Interaction with LIPE. /evidence=ECO:0000250"
     misc_feature    85..87
                     /gene="PLIN5"
                     /gene_synonym="LSDA5; LSDP5; MLDP; OXPAT"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BVZ1; propagated from
                     UniProtKB/Swiss-Prot (Q00G26.2); phosphorylation site"
     misc_feature    523..525
                     /gene="PLIN5"
                     /gene_synonym="LSDA5; LSDP5; MLDP; OXPAT"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BVZ1; propagated from
                     UniProtKB/Swiss-Prot (Q00G26.2); phosphorylation site"
     misc_feature    634..1470
                     /gene="PLIN5"
                     /gene_synonym="LSDA5; LSDP5; MLDP; OXPAT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00G26.2);
                     Region: Interaction with PNPLA2 and ABHD5.
                     /evidence=ECO:0000250"
     misc_feature    1045..1047
                     /gene="PLIN5"
                     /gene_synonym="LSDA5; LSDP5; MLDP; OXPAT"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q00G26.2); phosphorylation site"
     misc_feature    1411..1470
                     /gene="PLIN5"
                     /gene_synonym="LSDA5; LSDP5; MLDP; OXPAT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00G26.2);
                     Region: Recruits mitochondria at the lipid droplet surface.
                     /evidence=ECO:0000250"
     regulatory      2445..2450
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLIN5"
                     /gene_synonym="LSDA5; LSDP5; MLDP; OXPAT"
                     /note="hexamer: AATAAA"
     polyA_site      2470
                     /gene="PLIN5"
                     /gene_synonym="LSDA5; LSDP5; MLDP; OXPAT"
                     /note="major polyA site"
ORIGIN
        1 gtggagactc gagcctgggg tcggcggaga cagctggtgt ctgaagccgc tcgcgcccag
       61 ggtgaccctg tttgcagcac gatgtctgaa gaagaggcgg ctcagatccc cagatccagt
      121 gtgtgggagc aggaccagca gaacgtggtg cagcgtgtgg tggctctgcc cctggtcagg
      181 gccacgtgca ccgcggtctg cgatgtttac agtgcagcca aggacaggca cccgctgctg
      241 ggctccgcct gccgcctggc tgagaactgc gtgtgcggcc tgaccacccg tgccctggac
      301 cacgcccagc cgctgctcga gcacctgcag ccccagctgg ccactatgaa cagcctcgcc
      361 tgcaggggcc tggacaagct ggaagagaag cttccctttc tccagcaacc ttcggagacg
      421 gtggtgacct cagccaagga cgtggtggcc agcagtgtca cgggtgtggt ggacctggcc
      481 cggaggggcc ggcgctggag cgtggagctg aagcgctccg tgagccatgc tgtggatgtt
      541 gtactggaaa aatcagagga gctggtggat cacttcctgc ccatgacgga ggaagagctc
      601 gcggcactgg cggctgaggc tgaaggccct gaagtgggtt cggtggagga tcagaggaga
      661 cagcagggct actttgtgcg cctcggctcc ctgtcagcac ggatccgcca cctggcctac
      721 gagcactctg tggggaaact gaggcagagc aaacaccgtg cccaggacac cctggcccag
      781 ctgcaggaga cgctggagct gatagaccac atgcagtgtg gggtgacccc caccgccccg
      841 gcctgccctg ggaaggtgca cgagctgtgg ggggaatggg gccagcgccc tccggagagc
      901 cgccgccgga gccaggcaga gctggagacg ctggtgctgt cccgcagcct gacccaggag
      961 ctgcagggca cggtagaggc tctggagtcc agcgtgcggg gcctgcccgc cggcgcccag
     1021 gagaaggtgg ctgaggtgcg gcgcagtgtg gatgccctgc agaccgcctt cgctgatgcc
     1081 cgctgcttca gggacgtgcc agcggccgcg ctggccgagg gccggggtcg cgtggcccac
     1141 gcgcacgcct gcgtggacga gctgctggag ctggtggtgc aggccgtgcc gctgccctgg
     1201 ctggtgggac ccttcgcgcc catccttgtg gagcgacccg agcccctgcc cgacctggcg
     1261 gacctggtgg acgaggtcat cgggggccct gacccccgct gggcgcacct ggactggccg
     1321 gcccagcaga gagcctggga ggcagagcac agggacggga gtgggaatgg ggatggggac
     1381 aggatgggtg ttgccgggga catctgcgag caggaacccg agacccccag ctgcccggtc
     1441 aagcacaccc tgatgcccga gctggacttc tgacccatgg gccagtggag gcggggagga
     1501 aaggccacct gcacaccccg atccctgctg ccccctggtg gccacacgta agctcgaggc
     1561 cttggccttg acccttcttt ggaatcaggc ccaactccgg atctctgacc acctttttgg
     1621 tattggactc tcccattttt tccttgaaca catggacaaa gaggcccggg ggagcagggc
     1681 ctcgaaccct attcaggcca acttgagcca caagctgggt tcttcaccta tgtcctgctc
     1741 cctggctcca tgaagcgaat ccaaatcttt ccaagaggct gggcacagtg gctcacgcct
     1801 gtaatcccag cactttggga gtctgaggca ggtggatcat ctgaagtcag gagttcggga
     1861 tcatcctggc caacatgatg aaaccctgtc tctacttaga aagaaagaaa aaaaaaaaaa
     1921 aagccaggtg tggtggtgtg cacctgtagt cccagctagt tgtgaggctg acgcagaaga
     1981 attgcttaaa cccgagaggc gcggagcttg cagtgagcag agatcgcgcc actgcacacc
     2041 agcctgggtg acagagcgag actccatcta acaaaaaata atagtaacag cctcccgaag
     2101 aaatacacat tttgcccaat gccttctgtt tggggctttg aaaagtgagc cctgactggg
     2161 tgtggtggtt gacacctgtt atcacagcac tttgggaggc caaggtggga ggactgcttg
     2221 agcccaggag ttggaggctg cagtgagcca tgatcttgcc cctgcgctct cgcctgggtg
     2281 acagagcaag actctatctc aaaaatgttt ttaaaaaata cttcctaggg aaacacacat
     2341 tttgccctat ttggaacttt gaaaagtgag ccctcctctg cccatgggcc gtgctgctca
     2401 gcctgccata ctcgcttgct ttgctgtttg ggatttgcct ccagaataaa ggtccttttt
     2461 gttgttgaaa
//
LOCUS       NM_001013734            1898 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens ret finger protein like 4B (RFPL4B), mRNA.
ACCESSION   NM_001013734
VERSION     NM_001013734.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1898)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK122906.1, SRR5189667.138965.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000441065.3/ ENSP00000423391.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK122906.1, BC132796.1 and AL365214.16.
            On Nov 22, 2018 this sequence version replaced NM_001013734.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1898
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q21"
     gene            1..1898
                     /gene="RFPL4B"
                     /gene_synonym="RNF211"
                     /note="ret finger protein like 4B"
                     /db_xref="GeneID:442247"
                     /db_xref="HGNC:HGNC:33264"
     misc_feature    298..300
                     /gene="RFPL4B"
                     /gene_synonym="RNF211"
                     /note="upstream in-frame stop codon"
     CDS             313..1104
                     /gene="RFPL4B"
                     /gene_synonym="RNF211"
                     /note="RING finger protein 211"
                     /codon_start=1
                     /product="ret finger protein-like 4B"
                     /protein_id="NP_001013756.2"
                     /db_xref="CCDS:CCDS34515.1"
                     /db_xref="GeneID:442247"
                     /db_xref="HGNC:HGNC:33264"
                     /translation="MAKRLQAELSCPVCLDFFSCSISLSCTHVFCFDCIQRYILENHDF
                     RAMCPLCRDVVKVPALEEWQVSVLTLMTKQHNSRLEQSLHVREELRHFREDVTLDAATA
                     SSLLVFSNDLRSAQCKKIHHDLTKDPRLACVLGTPCFSSGQHYWEVEVGEVKSWSLGVC
                     KEPADRKSNDLFPEHGFWISMKAGAIHANTHLERIPASPRLRRVGIFLDADLEEIQFFD
                     VDNNVLIYTHDGFFSLELLCPFFCLELLGEGESGNVLTICP"
     regulatory      1880..1885
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFPL4B"
                     /gene_synonym="RNF211"
                     /note="hexamer: AATAAA"
     polyA_site      1898
                     /gene="RFPL4B"
                     /gene_synonym="RNF211"
                     /note="major polyA site"
ORIGIN
        1 gagaggagca gaggtctgta gaggtagaga cgtaggcttc ggatctttta gaattctgct
       61 ggaagtctcc aagtcaagag gatctacaaa gaaatactga gtggagacta tactgagatt
      121 ctgttaaaga cccacttgaa ttcagccccc attaggagaa actttggccg gagcagccaa
      181 cacatcacct ggaagtcttc agactagact attgaagagt ggattgtgta ctgagggctc
      241 ccaagtgctt ccagaagcca ataaaggatc acttcagttt acttcacggc taaggagtaa
      301 cccttaagaa ccatggccaa acgcctgcaa gcagagttgt cctgtccagt ttgcctggat
      361 tttttctcct gttccatttc tctctcttgt acacacgtgt tctgctttga ttgcatccag
      421 aggtatatac tagaaaacca tgattttaga gcgatgtgcc ccttgtgtcg agacgtggtg
      481 aaggtacctg ctttggaaga atggcaagtg agcgtcctaa cacttatgac caagcagcac
      541 aatagccgac ttgagcaaag tctgcacgtg agggaggagc tccggcattt tcgggaggat
      601 gtgaccctgg atgcagccac tgccagctcc ctccttgtct tctccaatga tctaagaagc
      661 gctcagtgta agaagatcca ccacgatctg acaaaagatc ccaggctggc ctgtgtcctg
      721 ggtactccct gcttctcctc cggccaacat tactgggagg ttgaagtggg agaggtgaag
      781 tcatggtccc tgggcgtctg caaggagccg gctgacagaa agagcaatga tttattccct
      841 gagcatggct tctggatcag catgaaggca ggagcaatcc atgctaacac ccacctggag
      901 agaattcctg caagccctcg ccttcgccgt gtgggaattt tcctggatgc tgacttagaa
      961 gaaatccagt tttttgatgt tgacaataat gtcctcatct atacacatga tggtttcttc
     1021 tctttggagc ttttgtgtcc attcttctgt cttgagctct tgggagaagg ggagagtggc
     1081 aacgtcctga ccatctgccc atgagaaagt cagcccttcc tagaagcttt ctgagaggtg
     1141 aaagagaatt ttggcctgag aaaggtcagc atgattgagg aagagataat gtgctatagt
     1201 gcaaagactt ggtaaatttt taaagtagat tttgtagact ttgtagcaaa acaattttcg
     1261 gatttttggg gtaaattttg tggaatttgt agctaggtaa ctggggtctt tagggatgtt
     1321 attaagtact gtaagcttca gttttctagt ctgtagatgc ggataattgt atctcagtca
     1381 aacagctgtg gtaattagag acaatactat gcctttgtct tatagtaaat aacaaataga
     1441 gaaatcttag attgtaagta agctagatat taggttttgt ggatagacaa tatctttttc
     1501 attatttcaa gctgttttgt gtaattcctg ataatgtctg aggaggaaga aaaattcaac
     1561 agccagtgtg agttattttg ttgatacagc atgaaatttc agagagacaa actgatattg
     1621 gggaagaact aagtttttca tttttatttt ctttgaaaca cagccacata agttttcttg
     1681 aaagacaaag aactttgacc aaaatgcatt gttaatggtg attcatattc ttatgggaag
     1741 tgtcatttac ccatctcaat aattggacta ttgtgattta taagaattct tatcaaccat
     1801 gttaactaac acatattcat caaaaattgt tttcaaggtt gcttttggat tttttatttg
     1861 tagaatttat tttcttgcaa ataaatttat aaagcatt
//
LOCUS       NM_001013735            1299 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens forkhead box B2 (FOXB2), mRNA.
ACCESSION   NM_001013735
VERSION     NM_001013735.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1299)
  AUTHORS   Moparthi L, Pizzolato G and Koch S.
  TITLE     Wnt activator FOXB2 drives the neuroendocrine differentiation of
            prostate cancer
  JOURNAL   Proc Natl Acad Sci U S A 116 (44), 22189-22195 (2019)
   PUBMED   31611391
  REMARK    GeneRIF: FOXB2 strongly activates Wnt signaling via the neurogenic
            ligand WNT7B and imposes a neuronal differentiation program on
            prostate cancer cells.
REFERENCE   2  (bases 1 to 1299)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376708.1/ ENSP00000365898.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL353637.21.
            On Mar 30, 2005 this sequence version replaced XM_498331.1.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1299
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.2"
     gene            1..1299
                     /gene="FOXB2"
                     /gene_synonym="bA159H20.4; FKH4"
                     /note="forkhead box B2"
                     /db_xref="GeneID:442425"
                     /db_xref="HGNC:HGNC:23315"
                     /db_xref="MIM:619962"
     CDS             1..1299
                     /gene="FOXB2"
                     /gene_synonym="bA159H20.4; FKH4"
                     /codon_start=1
                     /product="forkhead box protein B2"
                     /protein_id="NP_001013757.1"
                     /db_xref="CCDS:CCDS35045.1"
                     /db_xref="GeneID:442425"
                     /db_xref="HGNC:HGNC:23315"
                     /db_xref="MIM:619962"
                     /translation="MPRPGKSSYSDQKPPYSYISLTAMAIQHSAEKMLPLSDIYKFIME
                     RFPYYREHTQRWQNSLRHNLSFNDCFIKIPRRPDQPGKGSFWALHPDCGDMFENGSFLR
                     RRKRFKVLRADHTHLHAGSTKSAPGAGPGGHLHPHHHHHPHHHHHHHAAAHHHHHHHPP
                     QPPPPPPPPPPHMVHYFHQQPPTAPQPPPHLPSQPPQQPPQQSQPQQPSHPGKMQEAAA
                     VAAAAAAAAAAAVGSVGRLSQFPPYGLGSAAAAAAAAAASTSGFKHPFAIENIIGRDYK
                     GVLQAGGLPLASVMHHLGYPVPGQLGNVVSSVWPHVGVMDSVAAAAAAAAAAGVPVGPE
                     YGAFGVPVKSLCHSASQSLPAMPVPIKPTPALPPVSALQPGLTVPAASQQPPAPSTVCS
                     AAAASPVASLLEPTAPTSAESKGGSLHSVLVHS"
     misc_feature    352..660
                     /gene="FOXB2"
                     /gene_synonym="bA159H20.4; FKH4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VYV0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1237..1296
                     /gene="FOXB2"
                     /gene_synonym="bA159H20.4; FKH4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VYV0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 atgccgcggc cggggaagag ctcgtacagc gaccaaaaac cgccctactc ttacatctcg
       61 ctgaccgcca tggcaatcca gcactcggcc gagaagatgc tgccgctgag cgacatctac
      121 aagttcatca tggagcgctt cccctactac cgcgagcaca cacagcgctg gcagaacagc
      181 ctgcgccaca acctctcctt caacgactgc ttcatcaaga ttccgcggag gcccgaccag
      241 cctggcaagg gtagcttctg ggcgctgcac cccgactgcg gggacatgtt cgagaacggc
      301 agcttcctgc ggcgtcgcaa gcgcttcaag gtgctgcgcg ccgaccatac tcacttgcac
      361 gcgggaagca ccaagagcgc gccgggcgcc ggtccgggag ggcaccttca cccccatcac
      421 caccaccacc cccaccacca ccatcatcac cacgctgccg cacaccacca ccatcaccac
      481 cacccacccc agccgccgcc gccgccgccc ccgccgccgc cgcacatggt acactatttc
      541 catcagcaac cgcctactgc tccgcagccg cctccgcacc tcccgtcaca gcccccgcag
      601 caaccgcccc agcagtcgca gcctcagcag ccgtctcacc ccggcaagat gcaggaggcg
      661 gcggccgtgg cggcggcggc ggcggcggcc gcggcagccg cggtgggcag cgtgggacgc
      721 ctgtctcagt tcccacccta cgggctgggc tcggccgccg ccgctgccgc cgcggccgcg
      781 gcgtccacgt caggcttcaa gcaccccttt gccattgaga acattattgg ccgggactac
      841 aagggcgtgc tgcaggctgg agggctgccc ttggcgtccg tcatgcacca cctgggctac
      901 cccgtgcccg gccagcttgg caacgtcgtc agctccgtgt ggccgcacgt tggcgtcatg
      961 gattcggtgg ccgccgccgc ggccgccgca gccgcagccg gagtccctgt aggcccggag
     1021 tatggggcct tcggggtccc ggtcaagtcc ctgtgccact cggcaagcca gagcctgcct
     1081 gccatgccgg tgcccatcaa gcccacgcct gcgctgccgc ccgtgtccgc gctgcagccg
     1141 gggctcactg tccccgcggc ttcgcagcag cctccggcgc catccaccgt gtgctccgcg
     1201 gccgcggcct cgcccgttgc ctctctgctg gagcccacag cccctacctc ggccgaaagc
     1261 aagggcggct ccttgcactc ggtgctagtg cactcctag
//
LOCUS       NM_001013736            3299 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens family with sequence similarity 47 member C (FAM47C),
            mRNA.
ACCESSION   NM_001013736
VERSION     NM_001013736.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3299)
  AUTHORS   Chertman W, Arora H, Griswold AJ, Lopategui DM and Ramasamy R.
  TITLE     Whole Exome Sequencing Identifies a Rare Nonsense Mutation in FAM47C
            as a Possible Cause of Severe Oligospermia in Brothers With
            Varicocele
  JOURNAL   Urology 129, 71-73 (2019)
   PUBMED   30922974
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AK125992.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000358047.5/ ENSP00000367913.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX842568.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 4, 2019 this sequence version replaced NM_001013736.2.
            Summary: This gene encodes a product belonging to a family of
            proteins with unknown function. The coding sequence of this family
            member includes several tandemly repeated regions. [provided by
            RefSeq, Sep 2011].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3299
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp21.1"
     gene            1..3299
                     /gene="FAM47C"
                     /note="family with sequence similarity 47 member C"
                     /db_xref="GeneID:442444"
                     /db_xref="HGNC:HGNC:25301"
                     /db_xref="MIM:301067"
     CDS             46..3153
                     /gene="FAM47C"
                     /codon_start=1
                     /product="putative protein FAM47C"
                     /protein_id="NP_001013758.1"
                     /db_xref="CCDS:CCDS35227.1"
                     /db_xref="GeneID:442444"
                     /db_xref="HGNC:HGNC:25301"
                     /db_xref="MIM:301067"
                     /translation="MGDQRPQDRPSSPGMDSTPWYCDKPPSKYFAKRKHRRLRFPPVDT
                     QNWVFVTEGMDDFRYGCQSPEDTLVCRRDEFLLPKISLRGPQADPKSRKKKLLKKAALF
                     SKLSPAQPARKAFVEEVEAQLMTKHPLAMYPNLGEDMPPDLLLQVLKPLDPERKLEDAG
                     SCEGQEKTTDEPTEPGKYPCGEFSPRPPETRVSCLPPEPPKTPVSSLRPEPPETGVSHL
                     RPQPPKTQVSSLHLEPPETGVSHLRPEPPKTQVSSLHLEPPETGVSHLYLEPPGTGVSH
                     LCPEPPKTRVSHLHREPPETGVPDLCLEPPKSRVSHLRPEPSETGVSHLHPEPPKTLVS
                     SLHPEPPETGVSHLCPEPPETRVSPLRQLPPEAGVSHLCPEPPKTRVPPLRPETPKNGV
                     SPLFPEPPKTRISNLRSEPPKIGVSHLCLEPPKTRGSHLRPEPPETGVSHLRPEPPKTR
                     VSSLHLEPPETGVSHLCPEPPEKDVSHLRPEPPDTGVSHLCPEPPKTRVSHLRPEPSET
                     GVSHLRPEPPKILVSSLHQAPPESSVSHLRPEPPETGVSHLRPEPPKTRMYSLRPEPPD
                     TGVSHLCPEPPKTRVSSLPPEPPETGVSHLCPEPPETRVSHLRPEPPETGVSHLRPEPP
                     KTRMYSLRPEPPNTGVSHLCPEPPKTRVSSLPPEPPETGVSHLCPEPPETRVSHLRPEP
                     PETGVSRLHPEPPKTRVSSLHAEPPESRVSHLCPEPPETGVSHLRPEPPKPRVSSLRPE
                     PLETRVSHLRPEPPETGVSHLHPELPKPRVSSLHLEPPKTRRVSSLRLEPPKTGRVSSL
                     CPEPTKTGASHLKELFQEGTSSTMECVSDSLQRRHTSRKLRDFKWAGDLGVNEESISSL
                     FDFTPECRATYQDQKNKKANECSSGLKYSMELDEMDEVKFFSQEKDLDGKIQNAPNSHS
                     AQHVKMGYGAWYLKPKLGKKLRSDEPLIDPKLVLEKPDEPDILDGLYGPIAFKDFILSK
                     GYEMPGIIQRLFARRGWTYDSVKTPIQRAMQVYKYKEDVTDASEED"
     misc_feature    46..108
                     /gene="FAM47C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HY64.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    520..2436
                     /gene="FAM47C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HY64.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 aggaaccgcg gaaactggag aggtggcacc ccagcgaggg ccaccatggg ggaccagagg
       61 ccgcaggacc ggcccagttc cccgggcatg gactccacgc cctggtactg tgacaaaccg
      121 ccttccaagt acttcgcgaa gcgcaagcac aggcgcctga ggttcccgcc tgtggacacc
      181 cagaactggg tatttgtgac ggagggcatg gacgacttcc gctacggctg tcagtctcct
      241 gaagatacgc ttgtttgtcg ccgtgacgag tttttactcc ccaaaatatc tctcagaggt
      301 ccccaagctg accccaaaag caggaagaaa aagctgctca agaaagcggc cctgttttcc
      361 aagctctcgc cagcacagcc agcacggaag gcgttcgtag aggaagtgga agcccagctg
      421 atgaccaagc atcccttggc catgtacccc aatctgggag aagatatgcc tccagatctc
      481 ctactacagg tactgaaacc gctggaccct gagaggaagc tggaggacgc aggctcttgt
      541 gagggccagg agaagacaac tgacgaaccc acggagcctg gtaaataccc ctgtggggaa
      601 ttctcccctc ggcctcccga gactcgggtg tcctgtctcc ccccggagcc tcccaagact
      661 ccggtgtcca gtctccgccc ggagcctcca gagactggag tgtcccatct ccgcccacag
      721 cctcccaaga ctcaggtgtc cagtctccac ctggagcctc cagagactgg agtgtcccat
      781 ctccgcccag agcctcccaa gactcaggtg tccagtctcc acctggagcc tcccgagact
      841 ggagtgtccc atctctacct ggagcctcct gggactggag tgtctcatct ctgcccagag
      901 cctcccaaga ctcgcgtatc tcatctccat cgggagcctc ctgagactgg agtgcctgat
      961 ctctgcctgg agcctcccaa gtcacgcgta tctcatctcc gcccagagcc ttctgagact
     1021 ggagtgtccc atctccaccc agagcctccc aagactctgg tgtccagtct ccacccagag
     1081 cctcccgaga ctggagtgtc ccatctctgc ccggaacctc cagagactcg cgtatctcct
     1141 ctccgccagc tgcctcccga ggctggagtg tcccatctct gcccggaacc tcccaagact
     1201 cgcgtacctc ctctccgccc agagaccccc aagaatggag tgtctcctct cttcccggag
     1261 cctcccaaga ctcgcatatc taatctccgc tcggagcctc ccaagattgg agtgtcccat
     1321 ctctgcctgg agcctcccaa gactcgcgga tctcatctcc gcccggaacc tcctgagact
     1381 ggagtgtccc atctccgccc agagcctccc aagactcggg tgtccagtct ccacctggag
     1441 cctcctgaga ctggagtgtc ccatctctgc ccggagcctc cagagaagga cgtatctcat
     1501 ctccgcccag agcctcccga cactggagtg tcccatctct gcccagagcc ccccaagaca
     1561 cgcgtatctc atctccgccc agagccttct gagactggag tgtcccatct ccgcccagag
     1621 cctcccaaga ttctggtgtc cagtctccac caggcacctc ctgagagtag cgtatctcat
     1681 ctccgcccag agcctcctga gactggagtg tcccatctcc gcccagagcc tcccaagact
     1741 cggatgtaca gtctccgccc ggagcctccc gatactggag tgtcccatct ctgcccagag
     1801 cctcccaaga ctcgggtgtc cagtctcccc ccggagcccc ccgagactgg agtgtcccat
     1861 ctctgcccgg agcctccaga gactcgcgta tctcatctcc gcccagagcc tcctgagact
     1921 ggagtgtccc atctccgccc agagcctccc aagactcgga tgtacagtct ccgcccggag
     1981 cctcccaata ctggagtgtc ccatctctgc ccagagcctc ccaagactcg ggtgtccagt
     2041 ctccccccgg agccccccga gactggagtg tcccatctct gcccggagcc tccagagact
     2101 cgcgtatctc atctccgccc agagcctcct gagactggag tgtcccgtct ccacccagag
     2161 cctcccaaga ctcgggtgtc cagtctccac gcggagcctc ctgagagtcg cgtatctcat
     2221 ctctgcccgg agcctcctga gactggagtg tcccatctcc gcccagagcc tcccaagcct
     2281 cgggtttcca gtctccgccc agagcctctt gagactcgcg tatctcatct ccgcccggag
     2341 cctcctgaga ctggagtgtc ccatctccac ccagagcttc ccaagcctcg ggtatccagt
     2401 ctccacctgg agcctcccaa gactcgtcga gtgtccagtc tccgcctgga gcctcccaag
     2461 actggtcggg tgtccagtct ctgcccggag cctaccaaga ccggagcgtc ccatctaaaa
     2521 gaactgtttc aggaaggtac atcaagcaca atggagtgtg tttctgactc tcttcaacgt
     2581 agacacacat cgagaaaact ccgtgacttc aagtgggctg gagacctagg agttaatgaa
     2641 gaatccatca gcagtctgtt tgactttacc cctgagtgca gagcaaccta tcaagaccaa
     2701 aagaataaga aggcaaacga gtgttcctca gggctgaagt acagcatgga gctagacgaa
     2761 atggatgagg tcaaattctt ctcacaggaa aaagacttgg acgggaaaat ccagaatgca
     2821 ccaaattctc atagtgcaca gcatgtgaag atggggtatg gagcatggta cctcaagcct
     2881 aagttgggga aaaagctaag aagtgatgaa cctttgattg accccaagct cgtacttgaa
     2941 aagcctgatg aacccgacat tcttgacggt ctttatggac caatcgcctt taaggatttc
     3001 attctaagca agggctatga aatgcctggc atcattcaaa ggctgtttgc caggagggga
     3061 tggacttatg actctgttaa gactcctatt caacgtgcaa tgcaagttta caagtacaaa
     3121 gaagacgtca cagatgcatc ggaagaagat tagatggttt tgaatttact agttaattgg
     3181 gtatttcttg ctctcatttt aaacatcagt cagaatttat gatgactggc cccaggaatg
     3241 tacaacgttg gcaacatctg taaattcaat acctaatgtt tataaatatt tcttaatga
//
LOCUS       NM_001013742            7494 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens diacylglycerol kinase kappa (DGKK), mRNA.
ACCESSION   NM_001013742
VERSION     NM_001013742.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7494)
  AUTHORS   Richard MA, Sok P, Canon S, Brown AL, Peckham-Gregory EC, Nembhard
            WN, Carmichael SL, Ehli EA, Kallsen NA, Peyton SA, Davies GE, Patel
            A, Zamilpa I, Wyatt RA, Hobbs CA, Scheurer ME and Lupo PJ.
  TITLE     The role of genetic variation in DGKK on moderate and severe
            hypospadias
  JOURNAL   Birth Defects Res 111 (13), 932-937 (2019)
   PUBMED   31102501
  REMARK    GeneRIF: Five DGKK variants previously reported as associated with
            hypospadias were identified in the genotype data. None of the
            variants were associated with second- or third-degree hypospadias
            (range of odds ratios = 0.7-0.9, all p > .05). None of the variants
            were associated with second- or third-degree hypospadias (range of
            odds ratios = 0.7-0.9, all p > .05).
REFERENCE   2  (bases 1 to 7494)
  AUTHORS   Hozyasz KK, Mostowska A, Kowal A, Mydlak D, Tsibulski A and
            Jagodzinski PP.
  TITLE     Further Evidence of the Association of the Diacylglycerol Kinase
            Kappa (DGKK) Gene With Hypospadias
  JOURNAL   Urol J 15 (5), 272-276 (2018)
   PUBMED   29464676
  REMARK    GeneRIF: Our study provides strong evidence of an association
            between DGKK nucleotide variants, haplotypes and hypospadias
            susceptibility. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 7494)
  AUTHORS   Xie H, Lin XL, Zhang S, Yu L, Li XX, Huang YC, Lyu YQ, Chen HT, Xu J
            and Chen F.
  TITLE     Association between diacylglycerol kinase kappa variants and
            hypospadias susceptibility in a Han Chinese population
  JOURNAL   Asian J Androl 20 (1), 85-89 (2018)
   PUBMED   28597849
  REMARK    GeneRIF: This study successfully implicated DGKK variants in
            hypospadias risk among a Han Chinese population, especially for
            mild/moderate cases. Severe forms of hypospadias are likely due to
            other genetic factors
REFERENCE   4  (bases 1 to 7494)
  AUTHORS   Tabet R, Moutin E, Becker JA, Heintz D, Fouillen L, Flatter E,
            Krezel W, Alunni V, Koebel P, Dembele D, Tassone F, Bardoni B,
            Mandel JL, Vitale N, Muller D, Le Merrer J and Moine H.
  TITLE     Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol
            kinase activity in neurons
  JOURNAL   Proc Natl Acad Sci U S A 113 (26), E3619-E3628 (2016)
   PUBMED   27233938
  REMARK    GeneRIF: FMRP is mostly associated diacylglycerol kinase kappa
            (Dgkkappa), a master regulator that controls the switch between
            diacylglycerol and phosphatidic acid signaling pathways.
REFERENCE   5  (bases 1 to 7494)
  AUTHORS   Ma Q, Tang Y, Lin H, Xu M, Xu G, Fang X, Chen J, Song Z, Li Z, Shi Y
            and Geng H.
  TITLE     Diacylglycerol kinase kappa (DGKK) variants and hypospadias in Han
            Chinese: association and meta-analysis
  JOURNAL   BJU Int 116 (4), 634-640 (2015)
   PUBMED   25327554
  REMARK    GeneRIF: Studied the relationship between DGKK single nucleotide
            polymorphisms (SNPs) and hypospadias risk in the Han Chinese
            population.
REFERENCE   6  (bases 1 to 7494)
  AUTHORS   Geller F, Feenstra B, Carstensen L, Pers TH, van Rooij IA, Korberg
            IB, Choudhry S, Karjalainen JM, Schnack TH, Hollegaard MV, Feitz WF,
            Roeleveld N, Hougaard DM, Hirschhorn JN, Franke L, Baskin LS,
            Nordenskjold A, van der Zanden LF and Melbye M.
  TITLE     Genome-wide association analyses identify variants in developmental
            genes associated with hypospadias
  JOURNAL   Nat Genet 46 (9), 957-963 (2014)
   PUBMED   25108383
REFERENCE   7  (bases 1 to 7494)
  AUTHORS   Carmichael SL, Mohammed N, Ma C, Iovannisci D, Choudhry S, Baskin
            LS, Witte JS, Shaw GM and Lammer EJ.
  TITLE     Diacylglycerol kinase K variants impact hypospadias in a California
            study population
  JOURNAL   J Urol 189 (1), 305-311 (2013)
   PUBMED   23177175
REFERENCE   8  (bases 1 to 7494)
  AUTHORS   van der Zanden LF, van Rooij IA, Feitz WF, Franke B, Knoers NV and
            Roeleveld N.
  TITLE     Aetiology of hypospadias: a systematic review of genes and
            environment
  JOURNAL   Hum Reprod Update 18 (3), 260-283 (2012)
   PUBMED   22371315
  REMARK    Review article
REFERENCE   9  (bases 1 to 7494)
  AUTHORS   van der Zanden LF, van Rooij IA, Feitz WF, Knight J, Donders AR,
            Renkema KY, Bongers EM, Vermeulen SH, Kiemeney LA, Veltman JA,
            Arias-Vasquez A, Zhang X, Markljung E, Qiao L, Baskin LS,
            Nordenskjold A, Roeleveld N, Franke B and Knoers NV.
  TITLE     Common variants in DGKK are strongly associated with risk of
            hypospadias
  JOURNAL   Nat Genet 43 (1), 48-50 (2011)
   PUBMED   21113153
  REMARK    GeneRIF: Common variants in DGKK are strongly associated with risk
            of hypospadias Erratum:[Nat Genet. 2011 Mar;43(3):277]
REFERENCE   10  (bases 1 to 7494)
  AUTHORS   Imai S, Kai M, Yasuda S, Kanoh H and Sakane F.
  TITLE     Identification and characterization of a novel human type II
            diacylglycerol kinase, DGK kappa
  JOURNAL   J Biol Chem 280 (48), 39870-39881 (2005)
   PUBMED   16210324
  REMARK    GeneRIF: DGK kappa is a novel human type II diacylglycerol kinase
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB183864.1, BC137319.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145544,
            SAMEA2162841 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000611977.2/ ENSP00000477515.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC233286.2, AB183864.1,
            AC239396.3 and AI591038.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001013742.3.
            Summary: The protein encoded by this gene is an enzyme that
            phosphorylates diacylglycerol, converting it to phosphatidic acid.
            The encoded protein is a membrane protein and is inhibited by
            hydrogen peroxide. Variations in this gene have been associated
            with hypospadias. [provided by RefSeq, Mar 2011].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7494
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.22"
     gene            1..7494
                     /gene="DGKK"
                     /note="diacylglycerol kinase kappa"
                     /db_xref="GeneID:139189"
                     /db_xref="HGNC:HGNC:32395"
                     /db_xref="MIM:300837"
     misc_feature    94..96
                     /gene="DGKK"
                     /note="upstream in-frame stop codon"
     CDS             148..3963
                     /gene="DGKK"
                     /EC_number="2.7.1.107"
                     /note="DGK-kappa; DAG kinase kappa; diglyceride kinase
                     kappa; 142 kDa diacylglycerol kinase"
                     /codon_start=1
                     /product="diacylglycerol kinase kappa"
                     /protein_id="NP_001013764.1"
                     /db_xref="CCDS:CCDS75980.1"
                     /db_xref="GeneID:139189"
                     /db_xref="HGNC:HGNC:32395"
                     /db_xref="MIM:300837"
                     /translation="MDRGAAAAQGTAPPQDGEQPAESPEPPPPWPPPPPPPAPPPAPPL
                     LSEASPEPIPEPCPELAPGPCPEATSESATELYTEPTPEPATEPASEPAPEPATEPAPE
                     PATEPAPEPAPEPATESAPEPTPEPALESVPEPAPELTPEVAPELAPEPTPEPVTELAP
                     EFCPEAAPEFRPSPAPCLLQCPVDTRERGLKTSPSPSPSPSPRTPMSWSRIKKILKEGP
                     MLKNCNSFKRWKLRYFLVQGQKLYFAHHPAFAHFETIDLSQATVAESSCRNLCHSFCVI
                     TPQRKITLAAPNRKDMEEWINIIKTIQQGEIYKIPAAENNPFLVGMHCWYSSYSHRTQH
                     CNVCRESIPALSRDAIICEVCKVKSHRLCALRASKDCKWNTLSITDDLLLPADEVNMPH
                     QWVEGNMPVSSQCAVCHESCGSYQRLQDFRCLWCNSTVHDDCRRRFSKECCFRSHRSSV
                     IPPTALSDPKGDGQLVVSSDFWNLDWSSACSCPLLIFINSKSGDHQGIVFLRKFKQYLN
                     PSQVFDLLKGGPEAGLSMFKNFARFRILVCGGDGSVSWVLSLIDAFGLHEKCQLAVIPL
                     GTGNDLARVLGWGAFWNKSKSPLDILNRVEQASVRILDRWSVMIRETPRQTPLLKGQVE
                     MDVPRFEAAAIQHLESAATELNKILKAKYPTEMIIATRFLCSAVEDFVVDIVKAWGQIK
                     QNNTAIVSVILKSDLMYDRLSVLIDVLAEEAAATSAEKSATEYADSSKADRKPFIPQID
                     HIAKCKLELATKAQSLQKSLKLIIFQVEQALDEESRQTISVKNFSSTFFLEDDPEDINQ
                     TSPRRRSRRGTLSSISSLKSEDLDNLNLDHLHFTPESIRFKEKCVMNNYFGIGLDAKIS
                     LDFNTRRDEHPGQYNSRLKNKMWYGLLGTKELLQRSYRKLEERVHLECDGETISLPNLQ
                     GIVVLNITSYAGGINFWGSNTATTEYEAPAIDDGKLEVVAIFGSVQMAMSRIINLHHHR
                     IAQCHEVMITIDGEEGIPVQVDGEAWIQRPGLIKIRYKNAAQMLTRDRDFENSMKMWEY
                     KHTEIQAAPQPQLDFQDSQESLSDEEYAQMQHLARLAENLISKLNDLSKIHQHVSVLMG
                     SVNASANILNDIFYGQDSGNEMGAASCIPIETLSRNDAVDVTFSLKGLYDDTTAFLDEK
                     LLRSAEDETALQSALDAMNKEFKKLSEIDWMNPIFVPEEKSSDTDSRSLRLKIKFPKLG
                     KKKVEEERKPKSGQSVQSFIGNLWHRRHREDEAEGDDPLTPSRSQL"
     misc_feature    148..627
                     /gene="DGKK"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5KSL6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    289..684
                     /gene="DGKK"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5KSL6.1);
                     Region: 33 X 4 AA approximate tandem repeats of E-P-A-P"
     misc_feature    379..381
                     /gene="DGKK"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:16210324; propagated from
                     UniProtKB/Swiss-Prot (Q5KSL6.1); phosphorylation site"
     misc_feature    715..774
                     /gene="DGKK"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5KSL6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2560..2622
                     /gene="DGKK"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5KSL6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3742..3951
                     /gene="DGKK"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5KSL6.1);
                     Region: Required for localization to the plasma membrane.
                     /evidence=ECO:0000269|PubMed:16210324"
     misc_feature    3901..3960
                     /gene="DGKK"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5KSL6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      7476..7481
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DGKK"
                     /note="hexamer: AATAAA"
     polyA_site      7494
                     /gene="DGKK"
                     /note="major polyA site"
ORIGIN
        1 agagccaagc cagccatgga gtgggatggg ggaaagtttg gcaccctgcg aggggctgcc
       61 ggactggagt gggcggggcg cccgagggta ctttagcctt ccaggcttag ggactcaggc
      121 tgcccagacc tgaagcggtg tgcggccatg gaccgcggag ctgccgcagc ccagggcact
      181 gccccgcctc aggatggaga gcagcccgct gagtctccag agcctccgcc gccttggccg
      241 ccgccgccac caccaccggc tccgccgccg gctccgccgc tgctctccga ggcttcgcca
      301 gaacccatac cagagccctg tccagagctt gctccaggtc cctgtccaga ggcgacctca
      361 gaatcagcca cagaactgta cacagaaccg accccagaac cagccacaga gccggcctca
      421 gaaccggccc cagaacctgc cacagagccg gccccagaac ctgccacaga gccggcccca
      481 gaaccggccc cagaacctgc cacagagtct gccccagagc cgactccaga acctgcccta
      541 gagtcggtcc cagagccggc cccagagctg actccagaag ttgccccaga gctggcccca
      601 gagccgaccc cagaacctgt gacagagctg gccccagagt tctgccctga ggcggctcca
      661 gagttccgtc caagtccagc accatgtcta ttgcaatgtc cggtggacac tcgagagaga
      721 ggtctaaaga cctcgccatc gccatcgcca tcgccatcgc ccagaacgcc aatgtcgtgg
      781 tccagaataa agaaaatatt gaaggaagga cctatgctga agaactgtaa ctctttcaag
      841 agatggaagc ttagatattt tctggttcaa ggacagaagc tctactttgc acaccatccc
      901 gcgtttgcac actttgaaac gattgatctg tctcaagcca ctgtggcaga aagcagctgt
      961 agaaaccttt gccacagttt ttgtgttatt acaccacaac gaaaaatcac tctggctgca
     1021 cccaaccgga aagacatgga agaatggatt aacatcataa aaaccatcca acagggagaa
     1081 atttataaga tacctgcagc agaaaacaac ccttttcttg ttggaatgca ttgttggtac
     1141 tccagttaca gccaccggac ccagcactgc aatgtttgtc gagagagcat tcctgcctta
     1201 tctagagatg ccatcatctg tgaagtgtgc aaagtgaaat ctcacagatt gtgtgctttg
     1261 agagcaagca aagactgcaa gtggaataca ttgtctatca ctgatgacct ccttctgcct
     1321 gcagatgaag taaacatgcc ccatcaatgg gtagaaggaa acatgcctgt cagctctcag
     1381 tgtgcagtgt gtcatgagag ctgtggcagt tatcaaagac ttcaagactt ccgctgcctg
     1441 tggtgtaatt ctacggtgca tgatgactgt aggagacggt tttccaagga atgttgcttc
     1501 agaagccatc gctcatcagt cattcctccc actgctctaa gcgaccccaa aggcgatggc
     1561 caattagtag tatcttcaga cttctggaat cttgattggt catcagcctg ttcatgtccc
     1621 ttgctcatct tcatcaactc caaaagtggc gatcatcagg ggatcgtctt cctccgaaaa
     1681 ttcaagcaat accttaaccc atctcaagtg ttcgacttat tgaagggtgg acctgaagca
     1741 gggctgtcta tgttcaagaa ctttgctcgc tttcgcattc tggtttgtgg tggagatggc
     1801 agcgtgagct gggtcttatc tctgattgat gcctttggat tacatgaaaa gtgtcagttg
     1861 gcagtcatcc cacttggaac cggcaatgat ctggctcgtg ttctgggctg gggtgcattc
     1921 tggaacaaaa gcaagtcacc tctggacatc ctcaacagag tggagcaggc tagtgtgagg
     1981 atcctagaca gatggagtgt gatgattcgt gagactccca gacaaacccc gctgctaaaa
     2041 ggacaggttg aaatggatgt accacgattt gaggctgctg ccatccaaca cttagaatct
     2101 gcagccaccg agttgaacaa aatcctgaag gccaagtacc ccacagagat gatcatcgca
     2161 accagattct tgtgttcagc tgtggaagat tttgtggttg atattgtaaa ggcctggggt
     2221 cagataaaac agaacaacac tgcaatagtg tctgtgattt tgaaaagtga cttaatgtat
     2281 gataggctca gtgtcctgat cgatgtcctg gctgaggagg cagcagctac ttctgctgaa
     2341 aaaagtgcta cagaatatgc agacagcagc aaggcagata ggaagccctt cattcctcaa
     2401 atagaccaca tagccaagtg caagttggag ctggctacaa aggcccagag tctccagaaa
     2461 tccttgaaac tcatcatatt tcaagttgaa caagctctgg atgaggaaag cagacagaca
     2521 atatctgtta agaactttag ttcaactttc ttcctggaag atgacccaga agatattaac
     2581 cagacaagcc cacgacgccg ttctcgtcgt ggcactttgt cttctatatc ttctctcaaa
     2641 agtgaggacc tggacaacct taacttggat cacttacatt ttacacctga atctatacgc
     2701 ttcaaagaaa aatgtgtcat gaacaactac ttcggaattg gactggatgc taaaatttct
     2761 ctggacttca acaccagaag agatgaacac ccagggcaat acaatagccg ccttaagaac
     2821 aagatgtggt atggccttct gggaaccaaa gaacttttgc agcgctctta caggaaactg
     2881 gaagaacgag tgcatttgga gtgtgatgga gaaaccatct ccttgccaaa cctgcaaggc
     2941 attgtagtgc tcaacattac cagctatgct ggaggtatca acttctgggg aagcaacaca
     3001 gcaaccacgg aatatgaggc tcctgcaatc gatgatggga aactggaggt ggtggcaatc
     3061 tttggttctg tgcagatggc aatgtcccgt atcatcaacc tgcatcatca tcgcattgcc
     3121 cagtgccatg aggtgatgat aaccattgat ggtgaagaag gtatcccagt gcaggtggat
     3181 ggggaggcct ggattcagag accaggcctt atcaaaatta gatacaagaa cgctgcccag
     3241 atgctgacaa gagatcggga ctttgagaac tcaatgaaaa tgtgggaata caagcatact
     3301 gaaattcaag ctgcccctca accccagctg gacttccagg actctcaaga gagcctctct
     3361 gacgaggagt atgcccagat gcagcactta gctcggcttg cagaaaacct catcagcaaa
     3421 cttaatgacc tgagcaagat ccaccagcat gtgtctgtcc tcatgggttc tgtgaatgcc
     3481 agcgctaaca tcctgaatga tatattttac ggccaagaca gtggcaatga gatgggtgca
     3541 gcttcctgta ttcccattga aactctaagc agaaatgatg ccgtagatgt tacatttagt
     3601 cttaaaggtc tctacgatga caccacagct ttcctggatg aaaagctgct gagaagtgct
     3661 gaggatgaga ctgcactaca aagcgccctg gatgccatga ataaggagtt caaaaagcta
     3721 tctgagattg actggatgaa tccaatcttt gttccagagg aaaaatcttc ggacactgac
     3781 agtagaagcc tcaggctgaa aattaagttc cccaaattgg gaaagaaaaa ggtagaagag
     3841 gaacgcaagc ctaaatcagg ccagagtgtc cagagtttta ttggcaattt atggcaccgc
     3901 agacatcgtg aagatgaagc agagggtgat gatcctctaa caccatcgag atctcaactg
     3961 tagcccttga aagctggaag aactcacaac attgagaatt ctactaaaaa aactctcaaa
     4021 acctcaatac aggctagact aaatcatttc agaacaaaca tgagcaccac caagaaagac
     4081 cctccaattc ttttcactaa tgcattttcc tggacttaat ctggtctcct tagaggttta
     4141 catttcctca ttggccaaag gttcttgttc cgagttgtct tgttcagttc tccttctctt
     4201 tgtgcatctt gagcaactac agtatttatt gggataagct ctttatgaat ggcctgggat
     4261 ctataaagga ttcaagggag ttcacctctt cagggagttt tggaatggtt ttctctgacc
     4321 agcagagaaa ctatcaatgc taaggaatga atgaaagaca cacagactcc cagggagatg
     4381 aagagaaggg ggcaggcagg acagccagac ttggttgtgt gtctctccga atccctgcca
     4441 actgcaactt gcaccttcag gagatctctt ctagttggct cattaaaatg agaactagat
     4501 cctgggggct tgtccacttt cctgttaaga tgaccatgtg aaatctcttt ttgtagatat
     4561 ggtaacctct ctctctctct gcaaaccctt tgcgtttttc tatgtgtgct tgtatgtctg
     4621 catatgtcca ggtggtgctc tggtgggctc attggttgga actcacccct catggcaacc
     4681 atacaggctc ccctcctgct gccttgatcc tagcctgcat gcctccacgg agtgtttgcc
     4741 tgcattcttg ctggattttt taactaaatg ttttgccgct gtgctgcagt atagattatg
     4801 tatagagaca taaagatgta tatatatata catacgcata tatattttta agagctgaaa
     4861 atacaactcg acctctaagt gaccctataa tttattgtgc taatccagga atcccttccc
     4921 actccccctt actctacata acaataacac atacacctct accaactgcc ctatttcttg
     4981 gtggagcttc taaatctttt ggtgcatttt cagcgtctta gaggtggctg ggatctatgg
     5041 cccagctgat tctgacgccc ccttaaaatt ctgagccagg ccatggaaag gggaacaaaa
     5101 acaccaatgc cctaaagaag gggtttaagc tggcatgctg cctttttttg ctctatctgt
     5161 cctagactct tcatcagcaa ctgtgccctt ccccaataaa aagactatat ggagcaacca
     5221 ggccttgagc tctgtgactt agatgcctga actagggact gcctgacaat taagtcacag
     5281 cctaggccct tccccacaag ctccatcttg gcctgatctt ctggacaggc tgttgggtca
     5341 gtcctcaagt caccttcaaa tctcccatct tgcccttttc ccttgagtac agaggggcat
     5401 tgaagtgatc agaaaaaaca tgggcctgga gaaatgaagg ctagaagcct gtgctttcct
     5461 gtggttcttc ttgcaaattt ctcatgaaaa caaactattc ctaaatcgct ccaaatacta
     5521 attcacattt ttcaaaaatg ccttctccca gtcagggcaa atctaatcaa accccaatgc
     5581 ccagagaggt tctctctggt cagccttgca tcttcacccc acccttgact cataccttta
     5641 gttaactgtc ccttcccact tatcaagaga aaactggcct ctccctactt ctcagacaaa
     5701 cttagcgtgc tcaattacct gattcagtcc aatggctggt tcattgaggt gcacaattca
     5761 gattccaagc actggttctc aactctggaa ctccaccagc ctaacccact taaaccagcc
     5821 acctgtgctc cacctccgca ggggtgagga gaaaaatatt aacaagggga tagtccccaa
     5881 atgtctgatt gctgtgccaa actaagtcct agctctacaa ctagagaaga aagtcaatgg
     5941 aaaaagatga cagaaaacat ttaaaactta tttaagcatc agaatgtgtt agcttgttgt
     6001 acatatttga gtagtgagtg tgctgttgtt gtgtctttga ctttctctgt tattagtctt
     6061 tcttcccagg aggaggtatt agatgaaatc agcaagctca ctattgcagc ctgacttggc
     6121 tcctctatgg ctgcatgcat tgacacctgc acacacactc acagagtggg aaccaagttg
     6181 cattttcttc agaagagctt tttccgaagg ggaaaatgtc caaatgagca aatttaggac
     6241 tacagaagga agtcctggga gaagatagct ttatcttggc agtgactaag cagggctgtg
     6301 tcttataatt atttttatca ctgatgatag taaactgtaa taagactcca tctcttgtgc
     6361 ttactttgct gcaataatta ggtctttgtg cacagtgatg ctgctgttgc tctgttgtgc
     6421 catgtggatt ccctttcacc taccctgtcc tcccactctg agtcagaatg atattgactg
     6481 aaaccactag tatttggggc tagagtcagc tcatggagca cagttgatag atgacaaggc
     6541 ccaggagcag gtgtggcttg ctcaatccct cagttacctc ctaaattgct aagttaccag
     6601 tagtttccca aaaaggaaga tagcttgcca agcacctgtt cttgcatatg ctcacttgga
     6661 aacaaagcaa gaagtgatgc ctcaagggag ttgtcttagc tctgggagtg tgagctcctt
     6721 taaggacttt gttaaccact tgcagtaatt aatacaattg cttgggtggt gggaccaaac
     6781 accaaatatc catctcaatt atgttcagac atcattaaga cccaaagctc tagggtttgg
     6841 ttgtatcttt ggtagcactt tctgacgaat tggttgggta ggcaattcct ggccagaaga
     6901 atagtggaga agaaaaagcc gatacatttg aactgccacc aactgcttct ggtgtcaata
     6961 ctataggagg taaacagtta tgggtcccct tctccagaaa ggccctgtgc tgtgtccata
     7021 agagcaggtt aagaataaga aagagatttt ttaccttaat aaaactgggc cagaagaaac
     7081 agtcagggtc aacgtcatct tccctcagga cacaaatgga agaatttttc tttcacgaga
     7141 ggtggaaaat aataccaaag caaccaaacc cattagcacc attccatcct atatgagacc
     7201 ttgcttggct atatgatttg tggaattgca tttgtctatt tgtcagtgaa tctgtaaccc
     7261 attgttgttt tctgctctgt gttttttatt tcctcagagg cccctgcaaa taagcagcag
     7321 ggccaggggc tggttggggg aggaagctgg ggtatttaca tggtaacagg aaaaagcaga
     7381 aaaaaaagat ccacaaagtg tgcctattcc tctccccccg ccaaatggaa caccagtcct
     7441 caatgttaat aaagtattgc ttctttaaat attttaataa atggataaac ataa
//
LOCUS       NM_001013743            1141 bp    mRNA    linear   PRI 05-JUL-2023
DEFINITION  Homo sapiens transmembrane protein 225 (TMEM225), transcript variant
            1, mRNA.
ACCESSION   NM_001013743
VERSION     NM_001013743.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1141)
  AUTHORS   Matsuura M and Yogo K.
  TITLE     TMEM225: a possible protein phosphatase 1gamma2 (PP1gamma2)
            regulator localizes to the equatorial segment in mouse spermatozoa
  JOURNAL   Mol Reprod Dev 82 (2), 139-148 (2015)
   PUBMED   25605614
REFERENCE   2  (bases 1 to 1141)
  AUTHORS   Wu JH, Lemaitre RN, Manichaikul A, Guan W, Tanaka T, Foy M,
            Kabagambe EK, Djousse L, Siscovick D, Fretts AM, Johnson C, King IB,
            Psaty BM, McKnight B, Rich SS, Chen YD, Nettleton JA, Tang W,
            Bandinelli S, Jacobs DR Jr, Browning BL, Laurie CC, Gu X, Tsai MY,
            Steffen LM, Ferrucci L, Fornage M and Mozaffarian D.
  TITLE     Genome-wide association study identifies novel loci associated with
            concentrations of four plasma phospholipid fatty acids in the de
            novo lipogenesis pathway: results from the Cohorts for Heart and
            Aging Research in Genomic Epidemiology (CHARGE) consortium
  JOURNAL   Circ Cardiovasc Genet 6 (2), 171-183 (2013)
   PUBMED   23362303
REFERENCE   3  (bases 1 to 1141)
  AUTHORS   Hendrickx A, Beullens M, Ceulemans H, Den Abt T, Van Eynde A,
            Nicolaescu E, Lesage B and Bollen M.
  TITLE     Docking motif-guided mapping of the interactome of protein
            phosphatase-1
  JOURNAL   Chem Biol 16 (4), 365-371 (2009)
   PUBMED   19389623
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.145476.1, AY634366.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375026.7/ ENSP00000364166.2
            RefSeq Select criteria      :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP002407.3, AA437068.1, AY634366.1 and BX091037.1.
            On Nov 23, 2018 this sequence version replaced NM_001013743.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1141
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.1"
     gene            1..1141
                     /gene="TMEM225"
                     /gene_synonym="PMP22CD; PPP1R154; SPATA47"
                     /note="transmembrane protein 225"
                     /db_xref="GeneID:338661"
                     /db_xref="HGNC:HGNC:32390"
     misc_feature    228..230
                     /gene="TMEM225"
                     /gene_synonym="PMP22CD; PPP1R154; SPATA47"
                     /note="upstream in-frame stop codon"
     CDS             246..923
                     /gene="TMEM225"
                     /gene_synonym="PMP22CD; PPP1R154; SPATA47"
                     /note="isoform 1 is encoded by transcript variant 1; PMP22
                     claudin domain-containing protein; protein phosphatase 1,
                     regulatory subunit 154; spermatogenesis associated 47"
                     /codon_start=1
                     /product="transmembrane protein 225 isoform 1"
                     /protein_id="NP_001013765.2"
                     /db_xref="CCDS:CCDS31697.1"
                     /db_xref="GeneID:338661"
                     /db_xref="HGNC:HGNC:32390"
                     /translation="MVHVSNRSIQGMNILFSSWAVVLMVMGITLDKWVELISEDERAKM
                     NHSPWMMCCPALWPEDDLKVVRIMMTSSLGLSFLLNLILGMKFTYLIPQNKYIQLFTTI
                     LSFFSGISLLWALILYHNKLKQGQSMHFSSYRITWIMYTAYLNVFFLSVCGVLSLLECK
                     LSTSSCTCLNIHKSDNECKESENSIEDISLPECTAMPRSIVRAHTVNSLNKKVQTRHVT
                     WAL"
     misc_feature    270..332
                     /gene="TMEM225"
                     /gene_synonym="PMP22CD; PPP1R154; SPATA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GV28.2);
                     transmembrane region"
     misc_feature    462..524
                     /gene="TMEM225"
                     /gene_synonym="PMP22CD; PPP1R154; SPATA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GV28.2);
                     transmembrane region"
     misc_feature    543..605
                     /gene="TMEM225"
                     /gene_synonym="PMP22CD; PPP1R154; SPATA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GV28.2);
                     transmembrane region"
     misc_feature    654..716
                     /gene="TMEM225"
                     /gene_synonym="PMP22CD; PPP1R154; SPATA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GV28.2);
                     transmembrane region"
     misc_feature    900..914
                     /gene="TMEM225"
                     /gene_synonym="PMP22CD; PPP1R154; SPATA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GV28.2);
                     Region: RVxF. /evidence=ECO:0000250|UniProtKB:Q9D9S2"
     regulatory      1117..1122
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM225"
                     /gene_synonym="PMP22CD; PPP1R154; SPATA47"
                     /note="hexamer: AATAAA"
     polyA_site      1141
                     /gene="TMEM225"
                     /gene_synonym="PMP22CD; PPP1R154; SPATA47"
                     /note="major polyA site"
ORIGIN
        1 aaaccaatag atgattccat ggcagttggc agtcctgaca gcaggctggc cctgatagat
       61 aacggaagtg aggaagggtg agagttatct atcttctctg ttttatagac tacttcagct
      121 tctgctgtta ccaatgcctc agcaaccact gaaagttcag atatcaccct tcttgtaact
      181 aatcaaatca aggaagagat ctacaaaata gtggtggtgg ttccagctag aaattttcac
      241 tcacaatggt gcatgtttca aatagaagta tccagggtat gaacatactt ttctcctcct
      301 gggccgtagt cttaatggtg atgggaatca ccttagataa atgggttgaa ttgatttcag
      361 aagatgaaag agccaagatg aaccacagtc cttggatgat gtgttgccct gctctttggc
      421 cagaagatga cctgaaagtg gtcaggatta tgatgacgtc gagccttggc ctttccttcc
      481 tccttaactt aatcctgggt atgaaattca cctatctgat tcctcaaaat aaatatatac
      541 aactcttcac taccatcctc agtttcttct caggtatctc tctgctctgg gcactcatac
      601 tatatcacaa taagctgaag caaggtcaat ccatgcactt ctctagttat aggatcacct
      661 ggatcatgta tactgcttac ttaaatgttt tcttcttgtc tgtctgtgga gtcctctctc
      721 tcctagagtg caagttgtct accagtagct gtacctgcct gaacatccat aaatctgaca
      781 acgaatgtaa ggaatctgag aattctatcg aagatatttc attaccagaa tgcactgcaa
      841 tgcctcgtag cattgtccgt gcacacactg tgaattccct aaacaaaaaa gtccaaacac
      901 gtcacgtaac ctgggctctg tgatttggca atctatttct tgcagtatat gctcatcttt
      961 atggaaaaag ctttgtgggt gtgtgctgtg tctccaacca tgttgtctct atttggaatt
     1021 atggttgggg tttgtaaaaa gatctggaag atggtttttt aaaaaatcct ggcctgctga
     1081 acgaatagtt tcttctgcaa catttgttgt taatataata aatattatca tataaataat
     1141 a
//
LOCUS       NM_001013836            2695 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens mitotic arrest deficient 1 like 1 (MAD1L1), transcript
            variant 2, mRNA.
ACCESSION   NM_001013836
VERSION     NM_001013836.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2695)
  AUTHORS   Goo BS, Mun DJ, Kim S, Nhung TTM, Lee SB, Woo Y, Kim SJ, Suh BK,
            Park SJ, Lee HE, Park K, Jang H, Rah JC, Yoon KJ, Baek ST, Park SY
            and Park SK.
  TITLE     Schizophrenia-associated Mitotic Arrest Deficient-1 (MAD1) regulates
            the polarity of migrating neurons in the developing neocortex
  JOURNAL   Mol Psychiatry 28 (2), 856-870 (2023)
   PUBMED   36357673
  REMARK    GeneRIF: Schizophrenia-associated Mitotic Arrest Deficient-1 (MAD1)
            regulates the polarity of migrating neurons in the developing
            neocortex.
REFERENCE   2  (bases 1 to 2695)
  AUTHORS   Sokolov AV, Manu DM, Nordberg DOT, Bostrom ADE, Jokinen J and
            Schioth HB.
  TITLE     Methylation in MAD1L1 is associated with the severity of suicide
            attempt and phenotypes of depression
  JOURNAL   Clin Epigenetics 15 (1), 1 (2023)
   PUBMED   36600305
  REMARK    GeneRIF: Methylation in MAD1L1 is associated with the severity of
            suicide attempt and phenotypes of depression. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 2695)
  AUTHORS   Kim DK, Weller B, Lin CW, Sheykhkarimli D, Knapp JJ, Dugied G,
            Zanzoni A, Pons C, Tofaute MJ, Maseko SB, Spirohn K, Laval F,
            Lambourne L, Kishore N, Rayhan A, Sauer M, Young V, Halder H, la
            Rosa NM, Pogoutse O, Strobel A, Schwehn P, Li R, Rothballer ST,
            Altmann M, Cassonnet P, Cote AG, Vergara LE, Hazelwood I, Liu BB,
            Nguyen M, Pandiarajan R, Dohai B, Coloma PAR, Poirson J, Giuliana P,
            Willems L, Taipale M, Jacob Y, Hao T, Hill DE, Brun C, Twizere JC,
            Krappmann D, Heinig M, Falter C, Aloy P, Demeret C, Vidal M,
            Calderwood MA, Roth FP and Falter-Braun P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   4  (bases 1 to 2695)
  AUTHORS   Villarroya-Beltri C, Osorio A, Torres-Ruiz R, Gomez-Sanchez D,
            Trakala M, Sanchez-Belmonte A, Mercadillo F, Hurtado B, Pitarch B,
            Hernandez-Nunez A, Gomez-Caturla A, Rueda D, Perea J,
            Rodriguez-Perales S, Malumbres M and Urioste M.
  TITLE     Biallelic germline mutations in MAD1L1 induce a syndrome of
            aneuploidy with high tumor susceptibility
  JOURNAL   Sci Adv 8 (44), eabq5914 (2022)
   PUBMED   36322655
REFERENCE   5  (bases 1 to 2695)
  AUTHORS   McKinney BC, McClain LL, Hensler CM, Wei Y, Klei L, Lewis DA, Devlin
            B, Wang J, Ding Y and Sweet RA.
  TITLE     Schizophrenia-associated differential DNA methylation in brain is
            distributed across the genome and annotated to MAD1L1, a locus at
            which DNA methylation and transcription phenotypes share genetic
            variation with schizophrenia risk
  JOURNAL   Transl Psychiatry 12 (1), 340 (2022)
   PUBMED   35987687
  REMARK    GeneRIF: Schizophrenia-associated differential DNA methylation in
            brain is distributed across the genome and annotated to MAD1L1, a
            locus at which DNA methylation and transcription phenotypes share
            genetic variation with schizophrenia risk. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 2695)
  AUTHORS   Tsukasaki K, Miller CW, Greenspun E, Eshaghian S, Kawabata H,
            Fujimoto T, Tomonaga M, Sawyers C, Said JW and Koeffler HP.
  TITLE     Mutations in the mitotic check point gene, MAD1L1, in human cancers
  JOURNAL   Oncogene 20 (25), 3301-3305 (2001)
   PUBMED   11423979
REFERENCE   7  (bases 1 to 2695)
  AUTHORS   Cahill DP, da Costa LT, Carson-Walter EB, Kinzler KW, Vogelstein B
            and Lengauer C.
  TITLE     Characterization of MAD2B and other mitotic spindle checkpoint genes
  JOURNAL   Genomics 58 (2), 181-187 (1999)
   PUBMED   10366450
REFERENCE   8  (bases 1 to 2695)
  AUTHORS   Seeley TW, Wang L and Zhen JY.
  TITLE     Phosphorylation of human MAD1 by the BUB1 kinase in vitro
  JOURNAL   Biochem Biophys Res Commun 257 (2), 589-595 (1999)
   PUBMED   10198256
REFERENCE   9  (bases 1 to 2695)
  AUTHORS   Jin DY, Kozak CA, Pangilinan F, Spencer F, Green ED and Jeang KT.
  TITLE     Mitotic checkpoint locus MAD1L1 maps to human chromosome 7p22 and
            mouse chromosome 5
  JOURNAL   Genomics 55 (3), 363-364 (1999)
   PUBMED   10049595
REFERENCE   10  (bases 1 to 2695)
  AUTHORS   Jin DY, Spencer F and Jeang KT.
  TITLE     Human T cell leukemia virus type 1 oncoprotein Tax targets the human
            mitotic checkpoint protein MAD1
  JOURNAL   Cell 93 (1), 81-91 (1998)
   PUBMED   9546394
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853559.28889.1,
            SRR11853564.24158.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000265854.12/ ENSP00000265854.7
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM818088.1, BC009964.2,
            AF123318.1 and BU617803.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001013836.1.
            Summary: MAD1L1 is a component of the mitotic spindle-assembly
            checkpoint that prevents the onset of anaphase until all chromosome
            are properly aligned at the metaphase plate. MAD1L1 functions as a
            homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell
            cycle control and tumor suppression. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Jan 2015].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1-4 encode the same isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2695
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     gene            1..2695
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="mitotic arrest deficient 1 like 1"
                     /db_xref="GeneID:8379"
                     /db_xref="HGNC:HGNC:6762"
                     /db_xref="MIM:602686"
     CDS             264..2420
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="isoform a is encoded by transcript variant 2;
                     mitotic-arrest deficient 1, yeast, homolog-like 1; tumor
                     protein p53 inducible protein 9; mitotic spindle assembly
                     checkpoint protein MAD1; MAD1-like protein 1; tax-binding
                     protein 181; mitotic checkpoint MAD1 protein homolog;
                     mitotic arrest deficient 1-like protein 1; MAD1 mitotic
                     arrest deficient like 1"
                     /codon_start=1
                     /product="mitotic spindle assembly checkpoint protein MAD1
                     isoform a"
                     /protein_id="NP_001013858.1"
                     /db_xref="CCDS:CCDS43539.1"
                     /db_xref="GeneID:8379"
                     /db_xref="HGNC:HGNC:6762"
                     /db_xref="MIM:602686"
                     /translation="MEDLGENTMVLSTLRSLNNFISQRVEGGSGLDISTSAPGSLQMQY
                     QQSMQLEERAEQIRSKSHLIQVEREKMQMELSHKRARVELERAASTSARNYEREVDRNQ
                     ELLTRIRQLQEREAGAEEKMQEQLERNRQCQQNLDAASKRLREKEDSLAQAGETINALK
                     GRISELQWSVMDQEMRVKRLESEKQELQEQLDLQHKKCQEANQKIQELQASQEARADHE
                     QQIKDLEQKLSLQEQDAAIVKNMKSELVRLPRLERELKQLREESAHLREMRETNGLLQE
                     ELEGLQRKLGRQEKMQETLVGLELENERLLAKLQSWERLDQTMGLSIRTPEDLSRFVVE
                     LQQRELALKDKNSAVTSSARGLEKARQQLQEELRQVSGQLLEERKKRETHEALARRLQK
                     RVLLLTKERDGMRAILGSYDSELTPAEYSPQLTRRMREAEDMVQKVHSHSAEMEAQLSQ
                     ALEELGGQKQRADMLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLEE
                     EKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLR
                     AMERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYT
                     LTGYQIDITTENQYRLTSLYAEHPGDCLIFKATSPSGSKMQLLETEFSHTVGELIEVHL
                     RRQDSIPAFLSSLTLELFSRQTVA"
     misc_feature    264..266
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D9.2); acetylation site"
     misc_feature    309..311
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D9.2); phosphorylation site"
     misc_feature    444..446
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D9.2); acetylation site"
     misc_feature    498..509
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D9.2);
                     Region: Nuclear localization signal.
                     /evidence=ECO:0000269|PubMed:19010891"
     misc_feature    903..905
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D9.2); phosphorylation site"
     misc_feature    1164..1283
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D9.2);
                     Region: Important for interaction with IK.
                     /evidence=ECO:0000269|PubMed:22351768"
     misc_feature    1401..1859
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D9.2);
                     Region: Necessary for interaction with NEK2.
                     /evidence=ECO:0000269|PubMed:14978040"
     misc_feature    1545..1547
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D9.2); phosphorylation site"
     misc_feature    1578..1703
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D9.2);
                     Region: Important for interaction with IK.
                     /evidence=ECO:0000269|PubMed:22351768"
     misc_feature    1881..1916
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6D9.2);
                     Region: Necessary for interaction with MAD2L1.
                     /evidence=ECO:0000269|PubMed:19010891"
     misc_feature    2055..2057
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:29162720; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D9.2); phosphorylation site"
     misc_feature    2091..2093
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:29162720; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D9.2); phosphorylation site"
     misc_feature    2163..2165
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000305|PubMed:29162720; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D9.2); phosphorylation site"
     misc_feature    2409..2411
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000305|PubMed:29162720; propagated from
                     UniProtKB/Swiss-Prot (Q9Y6D9.2); phosphorylation site"
     regulatory      2675..2680
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="hexamer: AATAAA"
     polyA_site      2695
                     /gene="MAD1L1"
                     /gene_synonym="MAD1; MVA7; PIG9; TP53I9; TXBP181"
                     /note="major polyA site"
ORIGIN
        1 gtcgcgataa atgggcgccg gcggagcgga gggagatccg agcggcggcg gcaagctggc
       61 tgcgagcggc tgagcagcac tccaagctcg ccggcctttg gtctccagga cttgtcccag
      121 cagcccctcg aactgagaat tacaccatcg gacccctggc tctgaggcct tcagacttgg
      181 actgtgtcac actgccaggc ttccagggct ccaacttgca gacggcctgt tgtgggacag
      241 tctctgtaat cgcgaaagca accatggaag acctggggga aaacaccatg gttttatcca
      301 ccctgagatc tttgaacaac ttcatctctc agcgtgtgga gggaggctct ggactggata
      361 tttctacctc ggccccaggt tctctgcaga tgcagtacca gcagagcatg cagctggagg
      421 aaagagcaga gcagatccgt tcgaagtccc acctcatcca ggtggagcgg gagaaaatgc
      481 agatggagct gagtcacaag agggctcgag tggagctgga gagagcagcc agcaccagtg
      541 ccaggaacta cgagcgtgag gtcgaccgca accaggagct cctgacgcgc atccggcagc
      601 ttcaggagcg ggaggccggg gcggaggaga agatgcagga gcagctggag cgcaacaggc
      661 agtgtcagca gaacttggat gctgccagca agaggctgcg tgagaaagag gacagtctgg
      721 cccaggctgg cgagaccatc aacgcactga aggggaggat ctcggaactg cagtggagcg
      781 tgatggacca ggagatgcgg gtgaagcgcc tggagtcgga gaagcaggag ctgcaggagc
      841 agctggacct gcaacacaaa aaatgccagg aagccaatca gaaaatccag gaactccagg
      901 ccagccaaga agcaagagca gaccacgagc agcagattaa ggatctggag cagaagctgt
      961 ccctgcaaga gcaggatgca gcgattgtga agaacatgaa gtctgagctg gtacggctcc
     1021 ctaggctgga acgggagctg aagcagctgc gggaggagag cgcgcacctg cgggagatga
     1081 gagagaccaa cgggctgctc caggaagagc tggaagggct gcagaggaag ctggggcgcc
     1141 aggagaagat gcaggagacg ctggttggct tggagctgga gaacgagagg ctgctggcca
     1201 agctgcaaag ctgggagaga ctggaccaga ccatgggcct gagcatcagg actccagaag
     1261 acctttccag attcgtggtt gagctgcagc agagggagct tgccttgaag gacaagaaca
     1321 gcgccgtcac cagcagcgcc cgggggctgg agaaggccag gcagcagctg caggaggagc
     1381 tccggcaggt cagcggccag ctgttggagg agaggaagaa gcgcgagacc cacgaggcgc
     1441 tggcccggag gctccagaaa cgggtcctgc tgctcaccaa ggagcgggac ggtatgcggg
     1501 ccatcctggg gtcctacgac agcgagctga ccccggccga gtactcaccc cagctgacgc
     1561 ggcgcatgcg ggaggctgag gatatggtgc agaaggtgca cagccacagc gccgagatgg
     1621 aggctcagct gtcgcaggcc ctggaggagc tgggaggcca gaaacaaaga gcagacatgc
     1681 tggagatgga gctgaagatg ctgaagtctc agtccagctc tgccgaacag agcttcctgt
     1741 tctccaggga ggaggcggac acgctcaggt tgaaggtcga ggagctggaa ggcgagcgga
     1801 gtcggctgga ggaggaaaag aggatgctgg aggcacagct ggagcggcga gctctgcagg
     1861 gtgactatga ccagagcagg accaaagtgc tgcacatgag cctgaacccc accagtgtgg
     1921 ccaggcagcg cctgcgcgag gaccacagcc agctgcaggc ggagtgcgag cgactgcgcg
     1981 ggctcctgcg cgccatggag agaggaggca ccgtcccagc cgaccttgag gctgccgccg
     2041 cgagtctgcc atcgtccaag gaggtggcag agctgaagaa gcaggtggag agtgccgagc
     2101 tgaagaacca gcggctcaag gaggttttcc agaccaagat ccaggagttc cgcaaggcct
     2161 gctacacgct caccggctac cagatcgaca tcaccacgga gaaccagtac cggctgacct
     2221 cgctgtacgc cgagcaccca ggcgactgcc tcatcttcaa ggccaccagc ccctcgggtt
     2281 ccaagatgca gctactggag acagagttct cacacaccgt gggcgagctc atcgaggtgc
     2341 acctgcggcg ccaggacagc atccctgcct tcctcagctc gctcaccctc gagctcttca
     2401 gccgccagac cgtggcgtag cctgcaggct cgggggcata gccggagcca ctctgcttgg
     2461 cctgacctgc aggtcccctg ccccgccagc cacaggctgg gtgcacgtcc tgcctctcca
     2521 gccccacagg gcagcagcat gactgacaga cacgctggga cctacgtcgg gcttcctgct
     2581 ggggcggcca gcaccctctc cacgtgcaga ccccatgcgt cccggagcct ggtgtgtggg
     2641 cgtcggccac cagcctgggt tcctcacctt gtgaaataaa atcttctccc ctaga
//
LOCUS       NM_001013838            4462 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens capping protein regulator and myosin 1 linker 2
            (CARMIL2), transcript variant 1, mRNA.
ACCESSION   NM_001013838
VERSION     NM_001013838.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4462)
  AUTHORS   Levy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler
            J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi
            M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T,
            Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C,
            Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken
            Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kuhl JS, Ip
            W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy
            E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF,
            Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M,
            Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D,
            Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B,
            Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B, Rohlfs M,
            Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F
            and Beziat V.
  CONSRTM   CARMIL2 Consortium
  TITLE     Human CARMIL2 deficiency underlies a broader immunological and
            clinical phenotype than CD28 deficiency
  JOURNAL   J Exp Med 220 (2) (2023)
   PUBMED   36515678
  REMARK    GeneRIF: Human CARMIL2 deficiency underlies a broader immunological
            and clinical phenotype than CD28 deficiency.
REFERENCE   2  (bases 1 to 4462)
  AUTHORS   Bosa L, Batura V, Colavito D, Fiedler K, Gaio P, Guo C, Li Q,
            Marzollo A, Mescoli C, Nambu R, Pan J, Perilongo G, Warner N, Zhang
            S, Kotlarz D, Klein C, Snapper SB, Walters TD, Leon A, Griffiths AM,
            Cananzi M and Muise AM.
  TITLE     Novel CARMIL2 loss-of-function variants are associated with
            pediatric inflammatory bowel disease
  JOURNAL   Sci Rep 11 (1), 5945 (2021)
   PUBMED   33723309
  REMARK    GeneRIF: Novel CARMIL2 loss-of-function variants are associated with
            pediatric inflammatory bowel disease. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 4462)
  AUTHORS   Uchida Y, Yoshimitsu M, Hachiman M, Kusano S, Arima N, Shima K,
            Hayashida M, Kamada Y, Nakamura D, Arai A, Tanaka Y, Hara H and
            Ishitsuka K.
  TITLE     RLTPR Q575E: A novel recurrent gain-of-function mutation in patients
            with adult T-cell leukemia/lymphoma
  JOURNAL   Eur J Haematol 106 (2), 221-229 (2021)
   PUBMED   33098696
  REMARK    GeneRIF: RLTPR Q575E: A novel recurrent gain-of-function mutation in
            patients with adult T-cell leukemia/lymphoma.
REFERENCE   4  (bases 1 to 4462)
  AUTHORS   Yonkof JR, Gupta A, Rueda CM, Mangray S, Prince BT, Rangarajan HG,
            Alshahrani M, Varga E, Cripe TP and Abraham RS.
  TITLE     A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2
            Deficiency and EBV-Associated Smooth Muscle Tumors
  JOURNAL   Front Immunol 11, 884 (2020)
   PUBMED   32625199
  REMARK    GeneRIF: A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing
            CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4462)
  AUTHORS   Shamriz O, Simon AJ, Lev A, Megged O, Ledder O, Picard E, Joseph L,
            Molho-Pessach V, Tal Y, Millman P, Slae M, Somech R, Toker O and
            Berger M.
  TITLE     Exogenous interleukin-2 can rescue in-vitro T cell activation and
            proliferation in patients with a novel capping protein regulator and
            myosin 1 linker 2 mutation
  JOURNAL   Clin Exp Immunol 200 (3), 215-227 (2020)
   PUBMED   32201938
  REMARK    GeneRIF: Exogenous interleukin-2 can rescue in-vitro T cell
            activation and proliferation in patients with a novel capping
            protein regulator and myosin 1 linker 2 mutation.
REFERENCE   6  (bases 1 to 4462)
  AUTHORS   Lanier MH, McConnell P and Cooper JA.
  TITLE     Cell Migration and Invadopodia Formation Require a Membrane-binding
            Domain of CARMIL2
  JOURNAL   J Biol Chem 291 (3), 1076-1091 (2016)
   PUBMED   26578515
  REMARK    GeneRIF: Data suggest that CARMIL2 displays two localization
            patterns in cells; one coincides with vimentin intermediate
            filaments, and the other coincides with cell membrane at leading
            edge of migrating cells.
REFERENCE   7  (bases 1 to 4462)
  AUTHORS   Lanier MH, Kim T and Cooper JA.
  TITLE     CARMIL2 is a novel molecular connection between vimentin and actin
            essential for cell migration and invadopodia formation
  JOURNAL   Mol Biol Cell 26 (25), 4577-4588 (2015)
   PUBMED   26466680
  REMARK    GeneRIF: On the basis of these results, we propose a model in which
            dynamic vimentin filaments target CARMIL2 to critical
            membrane-associated locations, where CARMIL2 regulates CP, and thus
            actin assembly, to create cell protrusions
REFERENCE   8  (bases 1 to 4462)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   9  (bases 1 to 4462)
  AUTHORS   Liang Y, Niederstrasser H, Edwards M, Jackson CE and Cooper JA.
  TITLE     Distinct roles for CARMIL isoforms in cell migration
  JOURNAL   Mol Biol Cell 20 (24), 5290-5305 (2009)
   PUBMED   19846667
REFERENCE   10  (bases 1 to 4462)
  AUTHORS   Matsuzaka Y, Okamoto K, Mabuchi T, Iizuka M, Ozawa A, Oka A, Tamiya
            G, Kulski JK and Inoko H.
  TITLE     Identification, expression analysis and polymorphism of a novel
            RLTPR gene encoding a RGD motif, tropomodulin domain and
            proline/leucine-rich regions
  JOURNAL   Gene 343 (2), 291-304 (2004)
   PUBMED   15588584
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB113647.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA2146236 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000334583.11/ ENSP00000334958.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB113647.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001013838.2.
            Summary: This gene encodes a member of the CARMIL (capping protein,
            Arp2/3, myosin-I linker) family of proteins. The encoded protein
            interacts with and negatively regulates the heterodimeric capping
            protein and promotes cell migration. Reduced expression of this
            gene has been observed in human psoriasis patients. Mutations in
            this gene cause a human immunodeficiency syndrome characterized by
            smooth muscle tumors and impaired T-cell function. [provided by
            RefSeq, May 2017].
            Transcript Variant: This variant (1) retains an intron in the 5'
            coding region and contains an alternate in-frame exon in the 3'
            coding region compared to variant 2. The encoded isoform (1, also
            known as CARMIL2a) has the same N- and C-termini but is longer
            compared to isoform 2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4462
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..4462
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="capping protein regulator and myosin 1 linker 2"
                     /db_xref="GeneID:146206"
                     /db_xref="HGNC:HGNC:27089"
                     /db_xref="MIM:610859"
     CDS             104..4411
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="isoform 1 is encoded by transcript variant 1; RGD,
                     leucine-rich repeat, tropomodulin and proline-rich
                     containing protein; leucine rich repeat containing 16C;
                     leucine-rich repeat-containing protein 16C; capping
                     protein, Arp2/3 and myosin-I linker protein 2;
                     F-actin-uncapping protein RLTPR; RGD motif, leucine rich
                     repeats, tropomodulin domain and proline-rich containing"
                     /codon_start=1
                     /product="capping protein, Arp2/3 and myosin-I linker
                     protein 2 isoform 1"
                     /protein_id="NP_001013860.1"
                     /db_xref="CCDS:CCDS45513.1"
                     /db_xref="GeneID:146206"
                     /db_xref="HGNC:HGNC:27089"
                     /db_xref="MIM:610859"
                     /translation="MAQTPDGISCELRGEITRFLWPKEVELLLKTWLPGEGAVQNHVLA
                     LLRWRAYLLHTTCLPLRVDCTFSYLEVQAMALQETPPQVTFELESLRELVLEFPGVAAL
                     EQLAQHVAAAIKKVFPRSTLGKLFRRPTPASMLARLERSSPSESTDPCSPCGGFLETYE
                     ALCDYNGFPFREEIQWDVDTIYHRQGCRHFSLGDFSHLGSRDLALSVAALSYNLWFRCL
                     SCVDMKLSLEVSEQILHMMSQSSHLEELVLETCSLRGDFVRRLAQALAGHSSSGLRELS
                     LAGNLLDDRGMTALSRHLERCPGALRRLSLAQTGLTPRGMRALGRALATNAAFDSTLTH
                     LDLSGNPGALGASEDSGGLYSFLSRPNVLSFLNLAGTDTALDTVRGCSVGGWMTGRADW
                     RAGRGGLGPPAGVANSLPPQLFAAVSRGCCTSLTHLDASRNVFSRTKSRAAPAALQLFL
                     SRARTLRHLGLAGCKLPPDALRALLDGLALNTHLRDLHLDLSACELRSAGAQVIQDLVC
                     DAGAVSSLDLADNGFGSDMVTLVLAIGRSRSLRHVALGRNFNVRCKETLDDVLHRIVQL
                     MQDDDCPLQSLSVAESRLKLGASVLLRALATNPNLTALDISGNAMGDAGAKLLAKALRV
                     NSRLRSVVWDRNHTSALGLLDVAQALEQNHSLKAMPLPLNDVAQAQRSRPELTARAVHQ
                     IQACLLRNNRADPASSDHTTRLQPLGLVSDPSEQEVNELCQSVQEHVELLGCGAGPQGE
                     AAVRQAEDAIQNANFSLSILPILYEAGSSPSHHWQLGQKLEGLLRQVGEVCRQDIQDFT
                     QATLDTARSLCPQMLQGSSWREQLEGVLAGSRGLPELLPEQLLQDAFTRLRDMRLSITG
                     TLAESIVAQALAGLSAARDQLVESLAQQATVTMPPALPAPDGGEPSLLEPGELEGLFFP
                     EEKEEEKEKDDSPPQKWPELSHGLHLVPFIHSAAEEAEPEPELAAPGEDAEPQAGPSAR
                     GSPSPAAPGPPAGPLPRMDLPLAGQPLRHPTRARPRPRRQHHHRPPPGGPQVPPALPQE
                     GNGLSARVDEGVEEFFSKRLIQQDRLWAPEEDPATEGGATPVPRTLRKKLGTLFAFKKP
                     RSTRGPRTDLETSPGAAPRTRKTTFGDLLRPPTRPSRGEELGGAEGDTSSPDPAGRSRP
                     RYTRDSKAYSMILLPAEEEATLGARPDKRRPLERGETELAPSFEQRVQVMLQRIGVSRG
                     SGGAEGKRKQSKDGEIKKAGSDGDIMDSSTEAPPISIKSRTHSVSADPSCRPGPGSQGP
                     ESATWKTLGQQLNAELRSRGWGQQDGPGPPSPGQSPSPCRTSPSPDSLGLPEDPCLGPR
                     NEDGQLRPRPLSAGRRAVSVHEDQLQAPAERPLRLQRSPVLKRRPKLEAPPSPSLGSGL
                     GTEPLPPQPTEPSSPERSPPSPATDQRGGGPNP"
     misc_feature    293..367
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6F5E8.2);
                     Region: LRR 1"
     misc_feature    368..436
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6F5E8.2);
                     Region: LRR 2"
     misc_feature    848..919
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6F5E8.2);
                     Region: LRR 3"
     misc_feature    923..994
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6F5E8.2);
                     Region: LRR 4"
     misc_feature    1010..1081
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6F5E8.2);
                     Region: LRR 5"
     misc_feature    1106..1189
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6F5E8.2);
                     Region: LRR 6"
     misc_feature    1280..1372
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6F5E8.2);
                     Region: LRR 7"
     misc_feature    1388..1459
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6F5E8.2);
                     Region: LRR 8"
     misc_feature    1484..1546
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6F5E8.2);
                     Region: LRR 9"
     misc_feature    1577..1645
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6F5E8.2);
                     Region: LRR 10"
     misc_feature    1658..1732
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6F5E8.2);
                     Region: LRR 11"
     misc_feature    1739..1819
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6F5E8.2);
                     Region: LRR 12"
     misc_feature    1820..2104
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6F5E8.2);
                     Region: Tropomodulin-like"
     misc_feature    2093..2164
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6F5E8.2);
                     Region: LRR 16"
     misc_feature    2996..4408
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6F5E8.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3074..3076
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q6F5E8.2); phosphorylation site"
     misc_feature    3080..3082
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q6F5E8.2); phosphorylation site"
     misc_feature    3362..3445
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6F5E8.2);
                     Region: Necessary for localization at the cell membrane.
                     /evidence=ECO:0000269|PubMed:26578515"
     misc_feature    3461..3463
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3V3V9; propagated from
                     UniProtKB/Swiss-Prot (Q6F5E8.2); phosphorylation site"
     misc_feature    3839..3841
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q6F5E8.2); phosphorylation site"
     misc_feature    4010..4012
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q3V3V9; propagated from
                     UniProtKB/Swiss-Prot (Q6F5E8.2); methylation site"
     misc_feature    4046..4048
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3V3V9; propagated from
                     UniProtKB/Swiss-Prot (Q6F5E8.2); phosphorylation site"
     misc_feature    4361..4363
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3V3V9; propagated from
                     UniProtKB/Swiss-Prot (Q6F5E8.2); phosphorylation site"
     regulatory      4444..4449
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="hexamer: ATTAAA"
     polyA_site      4462
                     /gene="CARMIL2"
                     /gene_synonym="CARMIL2b; IMD58; LRRC16C; RLTPR"
                     /note="major polyA site"
ORIGIN
        1 aggtggctgc cgtgcgggtc tgggccccag gcttcctgtg tgcgcgctcg tcctctgctg
       61 tttcccgccg gagctcgttg ggcctccccg gcccgcccgg cccatggccc agacccccga
      121 cggcatctcc tgtgagctcc gaggcgagat caccaggttc ctgtggccca aagaggtgga
      181 gctgctgctg aaaacctggc tacccgggga gggtgctgtg caaaaccatg tcctggcact
      241 gctacgatgg agagcctacc tgctgcacac cacctgcctc ccgctgaggg tggactgcac
      301 gttcagctac ctggaggtcc aggccatggc gctgcaggag acaccccctc aggtcacctt
      361 tgagctggag tccctgcgtg agctggtcct ggagtttcct ggtgtggccg ccctggaaca
      421 gctggcccag cacgtggctg cagccatcaa gaaggtcttc cctcgctcga cccttgggaa
      481 gctattccgg aggcccacac cagcctccat gctggctcgg ctggagagaa gcagcccctc
      541 ggagtccact gacccctgca gcccctgtgg tggcttcttg gagacatacg aggctctgtg
      601 tgactacaat ggcttccctt tccgagagga gattcagtgg gacgtggaca ccatttacca
      661 tcgccagggc tgccgccatt tcagcctggg agacttcagc cacctcggca gtcgggacct
      721 ggccttgagt gtggctgccc tgtcctacaa cctgtggttc cggtgcctct cctgtgtgga
      781 catgaagctg agccttgagg tctcagaaca gattctgcac atgatgagtc agtcatcaca
      841 cctggaggag ctggtgctgg agacctgcag cctgagggga gactttgtcc gacgactggc
      901 ccaggcgctg gcgggacact caagctctgg gctgcgggag ctcagcctcg cggggaacct
      961 gctggatgac cgaggcatga ctgcactcag cagacacctc gagcgttgtc caggagccct
     1021 gaggagactc agcctggccc agacagggtt gacaccgcga ggaatgaggg ctctgggccg
     1081 ggcactggcc accaatgccg ccttcgactc caccctgacc cacctggacc tttctgggaa
     1141 tcctggggcg ctgggggcct ccgaggacag tgggggcctc tatagcttcc tgagccgtcc
     1201 taacgtactg tcgttcctga atctcgcagg caccgacact gccctggaca ctgtgagggg
     1261 gtgctccgtg gggggatgga tgaccggcag ggcggactgg agggcgggac ggggagggct
     1321 cggtcccccc gcgggtgtag ccaacagcct ccccccgcag ctcttcgcag cggtatcccg
     1381 aggctgctgc accagcctta cccacctcga cgcttcgagg aacgtcttct cccgcacgaa
     1441 gtcccgcgcc gcgccggccg cgctgcagct cttcctcagc cgcgcgcgga cgctgcggca
     1501 cctgggcctg gcgggctgca agctgccgcc cgacgcgctc agagcccttt tggatggcct
     1561 cgcgctcaac acgcacctcc gcgacctgca cctggacctc agcgcttgcg agctgcgctc
     1621 ggccggcgcc caggtgatac aagacttagt gtgcgacgca ggcgctgtga gctccctgga
     1681 tctggcggat aacggcttcg gctcagacat ggtgactctg gtgctggcca tcgggagaag
     1741 ccggtccctg agacatgtgg cgcttggaag gaacttcaac gtccggtgca aggagaccct
     1801 ggacgacgtc ctgcaccgga ttgtccagct catgcaggac gacgattgtc ctcttcagtc
     1861 tctgtcggtg gctgagtctc ggctgaagct gggtgccagc gtcctactcc gggccctagc
     1921 caccaatcct aacctgaccg cgctggatat cagcggcaac gccatggggg acgcgggcgc
     1981 caagttgctg gccaaggcgc tgcgggtcaa ctcgaggctc cggtctgtgg tctgggaccg
     2041 gaaccacaca tctgctttgg gtctgctgga cgtggcgcag gcgctggagc agaaccacag
     2101 cctgaaggcc atgcctctgc cactgaacga cgtggcccag gcgcagcgca gccgcccgga
     2161 actgacagca cgtgcagtcc atcagatcca agcctgtctc ttgaggaaca accgcgcaga
     2221 ccctgcctct tctgaccaca cgacccgcct tcagccactt ggtctggtct cagacccctc
     2281 agagcaggaa gtgaatgaat tgtgtcagtc ggtgcaggag catgtggagc tgctgggctg
     2341 tggggctggg ccccagggtg aagccgctgt gcgccaggcc gaggatgcca tccaaaatgc
     2401 caacttctct ctcagcattc tccccattct atatgaagct ggaagctccc caagccatca
     2461 ctggcagctt gggcagaagc tggagggcct tctgagacag gtgggcgagg tctgccgcca
     2521 ggacatccag gacttcactc aggccacact ggacacagca aggagcctct gcccacagat
     2581 gctgcaggga tccagctgga gggagcagct agagggggtc ctggcaggct cgaggggcct
     2641 cccggagctg ctcccagagc agctgctgca agatgccttc actaggctca gggacatgcg
     2701 gctatcaatc acggggacct tggcagagag cattgtggct caggctttgg caggcctgag
     2761 tgcagcccgg gatcagctgg tggagagtct ggctcagcag gcaacagtga caatgccccc
     2821 tgccctacca gcaccggatg gaggtgagcc cagcctcctt gagcctgggg aattggaagg
     2881 tcttttcttc cccgaggaga aggaagagga gaaggagaag gatgacagtc ctccacagaa
     2941 atggcctgag ctcagccacg gtcttcacct ggtccccttc attcacagtg ctgctgagga
     3001 agcggagccg gagcccgagc tggcggctcc gggagaagat gcagagccgc aggcggggcc
     3061 gtccgcgcgc ggctctccga gccctgccgc ccctgggccc ccggccggcc cgctgccccg
     3121 catggacctg ccactggcgg ggcagcccct gcgccatccg acccgggccc ggccgcggcc
     3181 gcgccgccag caccaccacc gcccgccgcc ggggggcccc caggtacccc cagccttgcc
     3241 gcaggaaggg aatgggctca gtgcccgcgt ggacgagggc gtggaggaat tcttctccaa
     3301 aaggctgatc cagcaggatc gcctctgggc ccccgaggag gacccggcca ctgagggggg
     3361 cgccactcct gtcccccgta cactgcgaaa gaagctgggc accctctttg ccttcaagaa
     3421 gcctcgttca acgcggggtc cacggactga tctagagacc agccctgggg cagctccccg
     3481 aacccgaaaa actacatttg gcgacctact gcggccgcca acccgtccca gccgtggtga
     3541 ggagcttggt ggggctgagg gggacaccag cagccctgac cctgccggca ggagccgacc
     3601 tcgctacaca agagatagca aggcctactc gatgatactg ctgcctgccg aggaggaggc
     3661 aacgctgggt gccagacccg acaagcggcg gcccctggag cggggagaaa cagaactggc
     3721 tccatccttt gaacagcggg tacaagtaat gctgcagagg ataggcgtca gccgaggcag
     3781 cgggggtgcc gaaggcaaga ggaagcaaag caaagatggc gagatcaaga aagctggctc
     3841 agatggtgac attatggaca gttccacgga ggcccctccc atctcgatca agtcccgcac
     3901 ccactctgtg tctgctgacc cttcctgcag acctggccca gggagccagg ggcctgagtc
     3961 tgccacctgg aagacactgg ggcagcagtt gaatgcggag ctcaggagcc gtggttgggg
     4021 ccaacaggat ggtccaggcc ctccctcccc tggtcaaagc ccaagtccct gcagaaccag
     4081 cccctcccca gacagcctgg gcctcccaga ggacccttgc ttgggcccca gaaatgaaga
     4141 tggccagctg aggccgaggc ctctctcggc agggcggcga gcagtgtctg tgcatgagga
     4201 ccagctccag gcccctgctg aacggcccct gaggctgcag cgctcccccg tcctcaaacg
     4261 caggccaaaa ctcgaggcac ctccatcccc aagcctagga tctggccttg gaaccgagcc
     4321 tctgccccca cagcccacag agccctccag ccctgagcgg agcccaccct ccccagccac
     4381 agaccaaaga ggcggcggcc ccaatccctg atcctctcct ctcctgccgc atgagattat
     4441 tttattaaaa aactcaaagg aa
//
LOCUS       NM_001013839            4782 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens exocyst complex component 7 (EXOC7), transcript variant
            1, mRNA.
ACCESSION   NM_001013839
VERSION     NM_001013839.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4782)
  AUTHORS   Gong D, Sun Y, Guo C, Sheu TJ, Zhai W, Zheng J and Chang C.
  TITLE     Androgen receptor decreases renal cell carcinoma bone metastases via
            suppressing the osteolytic formation through altering a novel
            circEXOC7 regulatory axis
  JOURNAL   Clin Transl Med 11 (3), e353 (2021)
   PUBMED   33783995
  REMARK    GeneRIF: Androgen receptor decreases renal cell carcinoma bone
            metastases via suppressing the osteolytic formation through altering
            a novel circEXOC7 regulatory axis.
REFERENCE   2  (bases 1 to 4782)
  AUTHORS   Chen ZS, Huang X, Talbot K and Chan HYE.
  TITLE     A fine balance between Prpf19 and Exoc7 in achieving degradation of
            aggregated protein and suppression of cell death in spinocerebellar
            ataxia type 3
  JOURNAL   Cell Death Dis 12 (2), 136 (2021)
   PUBMED   33542212
  REMARK    GeneRIF: A fine balance between Prpf19 and Exoc7 in achieving
            degradation of aggregated protein and suppression of cell death in
            spinocerebellar ataxia type 3. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4782)
  AUTHORS   Guo,Y., Wang,X., Wang,K. and He,Y.
  TITLE     Appraising the Value of Serum and Serum-Derived Exosomal
            LncRNA-EXOC7 as a Promising Biomarker in Cervical Cancer
  JOURNAL   Clin Lab 66 (7) (2020)
   PUBMED   32658426
  REMARK    GeneRIF: Appraising the Value of Serum and Serum-Derived Exosomal
            LncRNA-EXOC7 as a Promising Biomarker in Cervical Cancer.
REFERENCE   4  (bases 1 to 4782)
  AUTHORS   Mao L, Zhan YY, Wu B, Yu Q, Xu L, Hong X, Zhong L, Mi P, Xiao L,
            Wang X, Cao H, Zhang W, Chen B, Xiang J, Mei K, Radhakrishnan R, Guo
            W and Hu T.
  TITLE     ULK1 phosphorylates Exo70 to suppress breast cancer metastasis
  JOURNAL   Nat Commun 11 (1), 117 (2020)
   PUBMED   31913283
  REMARK    GeneRIF: ULK1 phosphorylation inhibits Exo70 homo-oligomerization as
            well as its assembly to the exocyst complex, which are needed for
            cell protrusion formation and matrix metalloproteinases secretion
            during cell invasion. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4782)
  AUTHORS   Rock S, Li X, Song J, Townsend CM Jr, Weiss HL, Rychahou P, Gao T,
            Li J and Evers BM.
  TITLE     Kinase suppressor of Ras 1 and Exo70 promote fatty acid-stimulated
            neurotensin secretion through ERK1/2 signaling
  JOURNAL   PLoS One 14 (3), e0211134 (2019)
   PUBMED   30917119
  REMARK    GeneRIF: Authors reveal a novel role for exocyst complex component
            70 in regulation of neurotensin vesicle exocytosis through its
            interaction with the extracellular signal-regulated kinase 1 and 2
            signaling pathway. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4782)
  AUTHORS   Wang S, Liu Y, Adamson CL, Valdez G, Guo W and Hsu SC.
  TITLE     The mammalian exocyst, a complex required for exocytosis, inhibits
            tubulin polymerization
  JOURNAL   J Biol Chem 279 (34), 35958-35966 (2004)
   PUBMED   15205466
REFERENCE   7  (bases 1 to 4782)
  AUTHORS   Inoue M, Chang L, Hwang J, Chiang SH and Saltiel AR.
  TITLE     The exocyst complex is required for targeting of Glut4 to the plasma
            membrane by insulin
  JOURNAL   Nature 422 (6932), 629-633 (2003)
   PUBMED   12687004
REFERENCE   8  (bases 1 to 4782)
  AUTHORS   Holtmeier W, Hennemann A and Caspary WF.
  TITLE     IgA and IgM V(H) repertoires in human colon: evidence for clonally
            expanded B cells that are widely disseminated
  JOURNAL   Gastroenterology 119 (5), 1253-1266 (2000)
   PUBMED   11054383
REFERENCE   9  (bases 1 to 4782)
  AUTHORS   Soudeyns H, Champagne P, Holloway CL, Silvestri GU, Ringuette N,
            Samson J, Lapointe N and Sekaly RP.
  TITLE     Transient T cell receptor beta-chain variable region-specific
            expansions of CD4+ and CD8+ T cells during the early phase of
            pediatric human immunodeficiency virus infection: characterization
            of expanded cell populations by T cell receptor phenotyping
  JOURNAL   J Infect Dis 181 (1), 107-120 (2000)
   PUBMED   10608757
REFERENCE   10  (bases 1 to 4782)
  AUTHORS   Ignatovich O, Tomlinson IM, Popov AV, Bruggemann M and Winter G.
  TITLE     Dominance of intrinsic genetic factors in shaping the human
            immunoglobulin Vlambda repertoire
  JOURNAL   J Mol Biol 294 (2), 457-465 (1999)
   PUBMED   10610771
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB028990.1, SRR18074969.2652357.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000589210.6/ ENSP00000468404.1
            RefSeq Select criteria      :: based on expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX647763.1, BC011045.1,
            AB028990.1 and AI653861.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001013839.3.
            Summary: The protein encoded by this gene is a component of the
            exocyst complex. The exocyst complex plays a critical role in
            vesicular trafficking and the secretory pathway by targeting
            post-Golgi vesicles to the plasma membrane. The encoded protein is
            required for assembly of the exocyst complex and docking of the
            complex to the plasma membrane. The encoded protein may also play a
            role in pre-mRNA splicing through interactions with
            pre-mRNA-processing factor 19. Alternatively spliced transcript
            variants encoding multiple isoforms have been observed for this
            gene, and a pseudogene of this gene is located on the long arm of
            chromosome 4. [provided by RefSeq, Nov 2011].
            Transcript Variant: This variant (1) encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4782
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..4782
                     /gene="EXOC7"
                     /gene_synonym="2-5-3p; BLOM4; EX070; EXO70; Exo70p; EXOC1;
                     NEDSEBA; YJL085W"
                     /note="exocyst complex component 7"
                     /db_xref="GeneID:23265"
                     /db_xref="HGNC:HGNC:23214"
                     /db_xref="MIM:608163"
     misc_feature    24..26
                     /gene="EXOC7"
                     /gene_synonym="2-5-3p; BLOM4; EX070; EXO70; Exo70p; EXOC1;
                     NEDSEBA; YJL085W"
                     /note="upstream in-frame stop codon"
     CDS             96..2150
                     /gene="EXOC7"
                     /gene_synonym="2-5-3p; BLOM4; EX070; EXO70; Exo70p; EXOC1;
                     NEDSEBA; YJL085W"
                     /note="isoform 1 is encoded by transcript variant 1;
                     exocyst complex component Exo70"
                     /codon_start=1
                     /product="exocyst complex component 7 isoform 1"
                     /protein_id="NP_001013861.1"
                     /db_xref="CCDS:CCDS32738.1"
                     /db_xref="GeneID:23265"
                     /db_xref="HGNC:HGNC:23214"
                     /db_xref="MIM:608163"
                     /translation="MIPPQEASARRREIEDKLKQEEETLSFIRDSLEKSDQLTKNMVSI
                     LSSFESRLMKLENSIIPVHKQTENLQRLQENVEKTLSCLDHVISYYHVASDTEKIIREG
                     PTGRLEEYLGSMAKIQKAVEYFQDNSPDSPELNKVKLLFERGKEALESEFRSLMTRHSK
                     VVSPVLILDLISGDDDLEAQEDVTLEHLPESVLQDVIRISRWLVEYGRNQDFMNVYYQI
                     RSSQLDRSIKGLKEHFHKSSSSSGVPYSPAIPNKRKDTPTKKPVKRPGTIRKAQNLLKQ
                     YSQHGLDGKKGGSNLIPLEGRDDMLDVETDAYIHCVSAFVKLAQSEYQLLADIIPEHHQ
                     KKTFDSLIQDALDGLMLEGENIVSAARKAIVRHDFSTVLTVFPILRHLKQTKPEFDQVL
                     QGTAASTKNKLPGLITSMETIGAKALEDFADNIKNDPDKEYNMPKDGTVHELTSNAILF
                     LQQLLDFQETAGAMLASQETSSSATSYSSEFSKRLLSTYICKVLGNLQLNLLSKSKVYE
                     DPALSAIFLHNNYNYILKSLEKSELIQLVAVTQKTAERSYREHIEQQIQTYQRSWLKVT
                     DYIAEKNLPVFQPGVKLRDKERQIIKERFKGFNDGLEELCKIQKAWAIPDTEQRDRIRQ
                     AQKTIVKETYGAFLQKFGSVPFTKNPEKYIKYGVEQVGDMIDRLFDTSA"
     regulatory      4758..4763
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOC7"
                     /gene_synonym="2-5-3p; BLOM4; EX070; EXO70; Exo70p; EXOC1;
                     NEDSEBA; YJL085W"
                     /note="hexamer: AATAAA"
     polyA_site      4782
                     /gene="EXOC7"
                     /gene_synonym="2-5-3p; BLOM4; EX070; EXO70; Exo70p; EXOC1;
                     NEDSEBA; YJL085W"
                     /note="major polyA site"
ORIGIN
        1 gggaccaaga gcggaagtgg gtgtgacggg gacgggggcc cggtgggccc gcggaggaaa
       61 gatactgggg agtgggagcc gcggggttca gagcgatgat tcccccacag gaggcatccg
      121 ctcgacggcg ggagattgag gacaagctga agcaggagga ggagactctg tccttcatcc
      181 gagacagcct ggagaagagc gaccagctca ctaagaacat ggtgtctatc ttatcatcct
      241 ttgagagccg ccttatgaag ctggagaact ccatcatccc tgtgcacaag cagacggaga
      301 atctgcagcg gctgcaggag aatgttgaga agacgctgtc ctgcctggac catgtcatca
      361 gctactacca tgtggccagt gacactgaga agatcatcag agagggcccc acaggtaggc
      421 tggaagagta cctgggaagc atggccaaga ttcagaaggc agtggagtat ttccaggaca
      481 acagcccaga cagcccggaa ctcaacaaag tgaaactgct ctttgagcgc gggaaggagg
      541 ccctggagtc cgaatttcgc agcctgatga cgcggcacag taaggtcgtc tcgcccgtgc
      601 tcatcttgga tctgatcagt ggtgacgatg atctggaggc ccaggaggac gtgaccctgg
      661 agcacctgcc cgagagcgtg ctccaggatg tcattcgcat ctcccgctgg ctggtggaat
      721 atggccgcaa ccaagatttc atgaacgtct actaccagat acgctccagc cagctggacc
      781 gctccatcaa aggactgaag gagcatttcc ataagagcag ttcttcctct ggggttccct
      841 actcccctgc tatccccaac aagaggaaag acacacctac caagaagcca gtcaagcggc
      901 cagggacgat ccgtaaggct cagaaccttc tgaaacagta ttcccagcat ggtctagatg
      961 ggaaaaaggg gggctctaac ctcattcctc tggaagggag agatgacatg ctggacgtgg
     1021 agaccgatgc ctacatccac tgcgtcagtg ccttcgtcaa gctggcgcag agcgagtacc
     1081 agctgctggc cgacatcatc cccgagcacc accagaagaa gaccttcgac tccctgatac
     1141 aggatgccct ggatgggctg atgcttgaag gggagaacat cgtgtctgct gcccggaagg
     1201 ccattgtgcg acacgacttc tccacggtgc tcaccgtctt ccccatcctg cgacacctca
     1261 agcagaccaa gcctgagttt gaccaggtgc tccagggcac ggctgccagc acaaagaaca
     1321 agctgcctgg cctcatcaca tccatggaga ccatcggtgc caaagcgctg gaggacttcg
     1381 cagacaacat caagaatgac ccggacaagg agtacaacat gccgaaggac ggcaccgtac
     1441 acgagctcac cagcaatgcc atcctcttcc tgcagcagct tttggacttc caggagacgg
     1501 caggcgccat gctggcctcc caagagacca gctcttcggc caccagctac agctctgagt
     1561 tcagcaagcg gctgctaagc acctatatct gtaaagtgct gggcaacctg cagttgaact
     1621 tgctgagcaa gtccaaggtg tacgaggacc cagctctgag cgccatcttc ctgcacaaca
     1681 actacaatta catcctcaag tccctggaga agtctgaact gatccagctg gtggcagtga
     1741 cacagaagac tgctgagcgc tcctaccggg agcacattga gcagcagatc cagacctacc
     1801 agcgcagctg gttaaaggtg actgattaca tcgcagagaa gaatctacct gtgttccagc
     1861 cgggagtcaa gctccgggac aaggagcggc agattatcaa ggagcgtttt aagggcttca
     1921 atgatggcct cgaagaactg tgcaaaatcc agaaggcctg ggctattcca gacacagagc
     1981 agagggacag gattcgccag gcccagaaga ccattgtcaa ggagacctac ggggcctttc
     2041 tacagaagtt tggcagcgtg cccttcacca agaacccgga gaagtacatc aagtacgggg
     2101 tggagcaggt gggcgacatg atcgatcgcc ttttcgacac ctctgcctga gcctgctgct
     2161 agccctgcct ggttccacca gactggcgtg tcattggaca gataaaccag tgttagcttg
     2221 cctctgggct gggtgagctt gaagtcctct gggacagaga cctgtctcca cgcctccggg
     2281 agctgtgtcc ctgagccccc tagtcctggc tcctgctttt tccccacagc ccgtgttccc
     2341 agccgaacca gcactctccc ggaagcctgg ggtccctcca caccttggct tttatgaccc
     2401 tgatggcttc tgaaacagga aaagagagaa ggaagacaga ggcctgtgcc cactgctgct
     2461 ccatgtgtac caagagcagc agggcagaag ggccctccct ccagcctagg tcagaggtgg
     2521 ggacagagaa ctcccctaca gcccagagat gtggcagggc tcagagaagc agccagagct
     2581 cctggaggaa aggcagtcgg gactgacccc ctctcttaaa acacattccc gcccgcccac
     2641 aggcctgagg tctgggacct ttccctccca ggagtcccct aggtggctgg gggaggcagg
     2701 ctcactggcc attttcccta gagtccagca cactgcagga ggcgttcgga ggaggagttc
     2761 cgccccaccc tctacagcct tcctcaggcc cctgtctctg gcccccagcc tcagtgcctc
     2821 ttggcccagg gccaggcagt cgtggttgca gaaggagcaa ttaggctgcc tgcctgtggg
     2881 ctgggagaca gggacaatgg ggaaaagtta aggagcaaaa tgggggttgg aagcaaaaaa
     2941 tagggcccca cctatttagg acgagattga agactgaccc ttgaggcaca cttgcactgg
     3001 agatgggttt atttcacgct ctgtgcttgt gtgctagcgg agggagagct cagggtggct
     3061 taatccagag gccctgtcat ggcccgcccc cagccatggg aaagcaaact tcatcctaag
     3121 gtgtgcagcc caggccctgc ccctttacag tctaggccgc ctgccatggg gtgcagcctc
     3181 tccaggggct gcgtcagact tgcacgctgc ccacatccag attcctgcaa agacgaattg
     3241 ggtgcacagc accccaacca catacacgag gaagaagatg cggtcagcag tctcaggcca
     3301 gcttctctgt gaccccttta ctcctctgga gggctctgtg gggagagata cagggaaagg
     3361 agctgttctt caaggtcccc tcaacatgag cggaagagcg aaccccaggg gtcatcagcc
     3421 tgtatcgctt cctttcttag attctcagct gatgaaaatt tgggtctggc ccatttcagg
     3481 ccatcttcag ttgaagaaac accctcttag gctgtgcaag gcatgggtta tcaggggatt
     3541 gaggtcacct gggacttcag ggaggctcag cttgctccct gccccagacc tgtttcttct
     3601 aagggaggag gacatggtgg agaccaggga caggagagcc agcagggtgg atgcaagggg
     3661 cctctaccca cacctggacc tccgtgccct caccccagcc ctaggtgtgc acctaggcct
     3721 cattccttac cccccagccc ctgcccacct tcagcaggat gaggccctgg gttgccgtgc
     3781 tctcgctgtt cccctctcgg ggctgggctg gggccgctct tggccccaag gttgccccgg
     3841 gccagcagcc cagccagcag cacagtctct atggtgctga ggaagagcag cagcagcagg
     3901 atggtgaagt agtaaactgg gggaggcagg gcacagggag atgctcaggg gccagtccct
     3961 gtgtctctgg tgcccagcga gctgagcacc agtgggtgac cggggagaaa cagggcagac
     4021 tgggtaaggg agcagggctt actgagcagt gggttgcagg aggaggagct gggcagggcc
     4081 tgcaccaggg aggagtggag gacgaggtaa ctcagcagca atgtcacctt gtagcctatg
     4141 cgctcaatgg cccggagggg cagcaacccc ccgcacacgt cagccaacag cagtgcctct
     4201 gcaggcacca agagagcgat gatggacttg agcgccgtgt tcttcagcct cagctggaag
     4261 gggaaaagtc agggccttcc cggcgggggg gaaggaggtg ggcatcgggg gcatggggcc
     4321 tggcctctgg ccgtgcatcc tcactcccac ccgcctccag cagccctctg tcggcctcct
     4381 cccgacttga ctcaccgtca cctggaagca gggcaccagc tgctggggtg ggacttgggt
     4441 cttcagatca taaactacgt attccctctt gacactcaca atctcgttca ccacgtgggc
     4501 ctggaactct aactccatcg ctgaggggtg ggaatgagaa ctatgaacca ggaaggagag
     4561 atcccagctg ccaagtctgg gggtagcaga ctggagccca ggggtgatgg agacttttga
     4621 tggcttttgg cagggacaga cttggacaca aaaccgatcc atagaagggc ttcccaaacc
     4681 ttgttttgca acatcccaaa ttgtctccag ttgaaggaag gcctttatca gattcataga
     4741 tgagctttca ttgtaaaaat aaatgtactt tgcaccactt ca
//
LOCUS       NM_001013841            1376 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens signal transducing adaptor family member 2 (STAP2),
            transcript variant 2, mRNA.
ACCESSION   NM_001013841
VERSION     NM_001013841.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1376)
  AUTHORS   Ichii M, Oritani K, Toda J, Hosen N, Matsuda T and Kanakura Y.
  TITLE     Signal-transducing adaptor protein-1 and protein-2 in hematopoiesis
            and diseases
  JOURNAL   Exp Hematol 105, 10-17 (2022)
   PUBMED   34780812
  REMARK    GeneRIF: Signal-transducing adaptor protein-1 and protein-2 in
            hematopoiesis and diseases. Review article
REFERENCE   2  (bases 1 to 1376)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1376)
  AUTHORS   Kitai Y, Iwakami M, Saitoh K, Togi S, Isayama S, Sekine Y, Muromoto
            R, Kashiwakura JI, Yoshimura A, Oritani K and Matsuda T.
  TITLE     STAP-2 protein promotes prostate cancer growth by enhancing
            epidermal growth factor receptor stabilization
  JOURNAL   J Biol Chem 292 (47), 19392-19399 (2017)
   PUBMED   28986450
  REMARK    GeneRIF: High STAP2 expression is associated with prostate cancer.
REFERENCE   4  (bases 1 to 1376)
  AUTHORS   Saitoh K, Tsuchiya T, Kashiwakura JI, Muromoto R, Kitai Y, Sekine Y,
            Oritani K and Matsuda T.
  TITLE     STAP-2 interacts with Pyk2 and enhances Pyk2 activity in T-cells
  JOURNAL   Biochem Biophys Res Commun 488 (1), 81-87 (2017)
   PUBMED   28478037
  REMARK    GeneRIF: The Pyk2/STAP-2 interaction is a novel mechanism to
            regulate SDF-1alpha-dependent T-cell chemotaxis.
REFERENCE   5  (bases 1 to 1376)
  AUTHORS   Muraoka D, Seo N, Hayashi T, Hyuga-Amaike C, Okamori K, Tawara I,
            Harada N and Shiku H.
  TITLE     Signal-transducing adaptor protein-2 promotes generation of
            functional long-term memory CD8+ T cells by preventing terminal
            effector differentiation
  JOURNAL   Oncotarget 8 (19), 30766-30780 (2017)
   PUBMED   28430604
  REMARK    GeneRIF: These findings indicate an essential role for STAP2 in the
            generation of a high-quality memory CD8+ CTLs periphery, and suggest
            the therapeutic potential of STAP2 in cancer patients.
REFERENCE   6  (bases 1 to 1376)
  AUTHORS   Sekine Y, Yamamoto T, Yumioka T, Sugiyama K, Tsuji S, Oritani K,
            Shimoda K, Minoguchi M, Yoshimura A and Matsuda T.
  TITLE     Physical and functional interactions between STAP-2/BKS and STAT5
  JOURNAL   J Biol Chem 280 (9), 8188-8196 (2005)
   PUBMED   15611091
  REMARK    GeneRIF: STAP-2/BKS is a modulator of STAT5-mediated signaling
REFERENCE   7  (bases 1 to 1376)
  AUTHORS   Yamamoto T, Yumioka T, Sekine Y, Sato N, Minoguchi M, Yoshimura A
            and Matsuda T.
  TITLE     Regulation of FcepsilonRI-mediated signaling by an adaptor protein
            STAP-2/BSK in rat basophilic leukemia RBL-2H3 cells
  JOURNAL   Biochem Biophys Res Commun 306 (3), 767-773 (2003)
   PUBMED   12810085
  REMARK    GeneRIF: These data indicate that STAP-2/BKS negatively controls the
            FcepsilonRI-mediated calcium mobilization and degranulation by
            direct modulation of tyrosine phosphorylation of PLC-gamma.
REFERENCE   8  (bases 1 to 1376)
  AUTHORS   Minoguchi M, Minoguchi S, Aki D, Joo A, Yamamoto T, Yumioka T,
            Matsuda T and Yoshimura A.
  TITLE     STAP-2/BKS, an adaptor/docking protein, modulates STAT3 activation
            in acute-phase response through its YXXQ motif
  JOURNAL   J Biol Chem 278 (13), 11182-11189 (2003)
   PUBMED   12540842
REFERENCE   9  (bases 1 to 1376)
  AUTHORS   Mitchell PJ, Sara EA and Crompton MR.
  TITLE     A novel adaptor-like protein which is a substrate for the
            non-receptor tyrosine kinase, BRK
  JOURNAL   Oncogene 19 (37), 4273-4282 (2000)
   PUBMED   10980601
REFERENCE   10  (bases 1 to 1376)
  AUTHORS   Rosenzweig BL, Imamura T, Okadome T, Cox GN, Yamashita H, ten Dijke
            P, Heldin CH and Miyazono K.
  TITLE     Cloning and characterization of a human type II receptor for bone
            morphogenetic proteins
  JOURNAL   Proc Natl Acad Sci U S A 92 (17), 7632-7636 (1995)
   PUBMED   7644468
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC000795.1, SRR7346977.544763.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000594605.6/ ENSP00000471052.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF677969.1, BC000795.1 and
            AC104521.3.
            On Jun 2, 2019 this sequence version replaced NM_001013841.1.
            Summary: This gene encodes the substrate of breast tumor kinase, an
            Src-type non-receptor tyrosine kinase. The encoded protein
            possesses domains and several tyrosine phosphorylation sites
            characteristic of adaptor proteins that mediate the interactions
            linking proteins involved in signal transduction pathways.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3' coding region, compared to variant 1, resulting in a
            shorter protein (isoform 2).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1376
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..1376
                     /gene="STAP2"
                     /gene_synonym="BKS"
                     /note="signal transducing adaptor family member 2"
                     /db_xref="GeneID:55620"
                     /db_xref="HGNC:HGNC:30430"
                     /db_xref="MIM:607881"
     CDS             75..1286
                     /gene="STAP2"
                     /gene_synonym="BKS"
                     /note="isoform 2 is encoded by transcript variant 2; brk
                     kinase substrate; breast tumor kinase substrate;
                     signal-transducing adaptor protein 2; BRK substrate"
                     /codon_start=1
                     /product="signal-transducing adaptor protein 2 isoform 2"
                     /protein_id="NP_001013863.1"
                     /db_xref="CCDS:CCDS45926.1"
                     /db_xref="GeneID:55620"
                     /db_xref="HGNC:HGNC:30430"
                     /db_xref="MIM:607881"
                     /translation="MASALRPPRVPKPKGVLPSHYYESFLEKKGPCDRDYKKFWAGLQG
                     LTIYFYNSNRDFQHVEKLNLGAFEKLTDEIPWGSSRDPGTHFSLILRDQEIKFKVETLE
                     CREMWKGFILTVVELRVPTDLTLLPGHLYMMSEVLAKEEARRALETPSCFLKVSRLEAQ
                     LLLERYPECGNLLLRPSGDGADGVSVTTRQMHNGTHVVRHYKVKREGPKYVIDVEQPFS
                     CTSLDAVVNYFVSHTKKALVPFLLDEDYEKVLGYVEADKENGENVWVAPSAPGPGPAPC
                     TGGPKPLSPASSQDKLPPLPPLPNQEENYVTPIGDGPAVDYENQDVASSSWPVILKPKK
                     LPKPPAKLPKPPVGPKPEPKVFNGGLGRKLPVSSAQPLFPTAGLADMTAELQKKLEKRR
                     ALEH"
     misc_feature    138..140
                     /gene="STAP2"
                     /gene_synonym="BKS"
                     /note="Phosphotyrosine, by SRC.
                     /evidence=ECO:0000305|PubMed:12540842; propagated from
                     UniProtKB/Swiss-Prot (Q9UGK3.2); phosphorylation site"
     misc_feature    822..824
                     /gene="STAP2"
                     /gene_synonym="BKS"
                     /note="Phosphotyrosine, by PTK6.
                     /evidence=ECO:0000269|PubMed:12540842,
                     ECO:0000269|PubMed:19393627; propagated from
                     UniProtKB/Swiss-Prot (Q9UGK3.2); phosphorylation site"
     misc_feature    882..998
                     /gene="STAP2"
                     /gene_synonym="BKS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UGK3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1002..1004
                     /gene="STAP2"
                     /gene_synonym="BKS"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000305|PubMed:12540842; propagated from
                     UniProtKB/Swiss-Prot (Q9UGK3.2); phosphorylation site"
     misc_feature    1038..1040
                     /gene="STAP2"
                     /gene_synonym="BKS"
                     /note="Phosphotyrosine, by SRC.
                     /evidence=ECO:0000305|PubMed:12540842; propagated from
                     UniProtKB/Swiss-Prot (Q9UGK3.2); phosphorylation site"
     misc_feature    1065..1196
                     /gene="STAP2"
                     /gene_synonym="BKS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UGK3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1356..1361
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STAP2"
                     /gene_synonym="BKS"
                     /note="hexamer: ATTAAA"
     polyA_site      1376
                     /gene="STAP2"
                     /gene_synonym="BKS"
                     /note="major polyA site"
ORIGIN
        1 ctgtttctca gcttcccggc ccagctgggg cacccactgg aaggagaggc caggcggaag
       61 accctggctc cgtcatggcc tctgccctga ggccaccccg tgtccccaag cctaagggtg
      121 tcctgccttc acactactat gagagctttc tagagaagaa ggggccctgt gaccgggatt
      181 acaagaagtt ctgggcaggc ctgcagggtc tcaccattta tttctacaat agcaatcggg
      241 acttccagca cgtggagaag ctcaacttgg gagcatttga gaaactcaca gatgagattc
      301 cctggggaag ctcacgtgac cctggcaccc acttcagcct gattctccgg gatcaggaga
      361 tcaagttcaa ggtagagacc ttggagtgtc gggaaatgtg gaaaggcttc atcttaacgg
      421 tggtggagct ccgtgtcccg accgacttga ccctgcttcc tgggcaccta tacatgatgt
      481 ctgaagtctt ggccaaagag gaggcgcgcc gtgcactgga gacaccctcg tgcttcctga
      541 aggtgagccg gctggaggca caactgctcc tggagcgcta ccccgagtgc gggaacctgc
      601 tgctgcggcc cagcggggac ggcgccgacg gcgtgtcggt caccacgcgg cagatgcaca
      661 acgggacgca cgtggtccgg cattacaagg tgaagcggga gggccccaag tacgtgatcg
      721 atgtggaaca gccgttctct tgcacctccc tggacgccgt ggtcaactat ttcgtgtcgc
      781 ataccaaaaa ggcgctggtg ccattcctgt tagacgagga ctacgagaag gtgctaggct
      841 acgtggaagc cgataaggag aatggcgaga atgtgtgggt ggcgccctcc gctccgggcc
      901 caggtcctgc accctgcaca ggtggcccca agccgctgtc acctgcgtct agccaggaca
      961 agctgccccc actgccccca ctaccgaacc aggaagagaa ctacgtgacc cccattggag
     1021 atggcccagc tgttgactat gagaaccaag atgtggcttc ctctagttgg ccagtcatcc
     1081 tgaagccaaa gaagttgcca aagcctcctg ccaagcttcc aaagccaccc gttggaccca
     1141 agccagagcc caaagtcttt aatggtggct tgggcaggaa gctgccagtc agttcagccc
     1201 agcctctctt ccccacagcc gggctggcag acatgacggc agagctacag aagaagctgg
     1261 agaagaggcg ggcactggag cactgattcg gacacaccag ggaccagcgg gctagtccca
     1321 gggcatggcc cagcggccag attctttttc ccaggattaa aactctgacc ccagga
//
LOCUS       NM_001013842            2056 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens chromosome 8 open reading frame 58 (C8orf58),
            transcript variant 1, mRNA.
ACCESSION   NM_001013842
VERSION     NM_001013842.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2056)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.976647.1, DRR138509.8321.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000289989.10/ ENSP00000289989.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC037459.16, DC328974.1 and AI380311.1.
            On Nov 23, 2018 this sequence version replaced NM_001013842.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2056
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     gene            1..2056
                     /gene="C8orf58"
                     /note="chromosome 8 open reading frame 58"
                     /db_xref="GeneID:541565"
                     /db_xref="HGNC:HGNC:32233"
     misc_feature    42..44
                     /gene="C8orf58"
                     /note="upstream in-frame stop codon"
     CDS             123..1220
                     /gene="C8orf58"
                     /note="isoform 1 is encoded by transcript variant 1;
                     uncharacterized protein C8orf58"
                     /codon_start=1
                     /product="uncharacterized protein C8orf58 isoform 1"
                     /protein_id="NP_001013864.1"
                     /db_xref="CCDS:CCDS34862.1"
                     /db_xref="GeneID:541565"
                     /db_xref="HGNC:HGNC:32233"
                     /translation="MMGRRRAFAVDGRDGAGEGLARGCIVPGVTSTYRRIPDAAHGCSS
                     WERGDKFRGVGREALFLKLASRDSGVEMAVGDSPLAALPGLSQDSLDFESSGSSEPPAQ
                     VGRLLASQKLGEVLERSRRLPTAPTSLSGQHRSLRLASKPEREVPLGAGQQESMEADTD
                     LEAGLEEEAVGGLGPGAWACLPGQGLRYLEHLCLVLEQMARLQQLYLQLRIQRPPGDPG
                     EEESTRAPLPSPLHTPGNRGQGPWELLSQTEHTGAKAASPPKVEVPSANPPRLPETPVE
                     PTYHLPSSQGHKRDISHWDKVKVLLNRICRRSHHHPEPPAPPDGSDPRIESRDLPERPQ
                     CRPHRKTFMPSLVVKKQRAKNLSVG"
     misc_feature    477..593
                     /gene="C8orf58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAV2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    768..1016
                     /gene="C8orf58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAV2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1059..1217
                     /gene="C8orf58"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NAV2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2037..2042
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8orf58"
                     /note="hexamer: ATTAAA"
     polyA_site      2056
                     /gene="C8orf58"
                     /note="major polyA site"
ORIGIN
        1 gtgtctgggg gccgcgccca gctgggtcgg gacgcgctcc ctgagctgcc cgagctccgc
       61 ggggactcgg gccgggatcc tcgggcggct gcattggccg gggccggggc cgggagcggg
      121 ccatgatggg ccggcggcgc gccttcgccg tggacggccg ggatggggct ggcgagggcc
      181 tggcacgggg ctgcatagtg cctggagtca ccagcaccta cagacggatc cccgacgctg
      241 cccacgggtg ctcatcctgg gagagaggtg acaagttcag aggtgtcggc agggaggcac
      301 tctttctcaa actggcctcc cgggactcag gagtggagat ggcagttggg gacagccccc
      361 tggccgcctt accgggcctt tctcaggact ccctggactt tgaatcctca gggagttctg
      421 agccccccgc ccaggtaggc cgactcctgg ccagccagaa gctgggggag gtgttggagc
      481 ggtcccgccg gctcccaaca gctcccacca gcttgtcagg acaacaccgc tccctgcggc
      541 tggcaagcaa gcctgagcgt gaagtgcccc ttggagcagg gcaacaggag tccatggagg
      601 cagacacaga cctagaggca ggcctggaag aagaggcggt ggggggcctg gggcctggag
      661 cctgggcctg cctccccggg cagggtcttc gctatctgga acacctgtgc ctggtgctgg
      721 agcagatggc aaggctccag cagctctacc tgcagctgcg gatccagagg cccccagggg
      781 atcccggcga ggaggagtcg acccgagccc ctttaccgtc cccgttacac accccaggca
      841 atcgggggca ggggccatgg gagctgctaa gccagacaga gcacacagga gcaaaggctg
      901 cttcaccccc aaaggtggag gtgcccagtg ccaaccctcc caggctgcca gaaaccccag
      961 tggagccaac gtaccacttg ccatcctccc agggacacaa gcgggatatc tcccactggg
     1021 acaaggtcaa ggtcctgctc aaccggatct gccggagaag ccaccaccac cctgagcccc
     1081 ctgcccctcc tgatggctct gaccccagga tcgagtccag ggacctccct gaaaggcctc
     1141 agtgccgccc ccaccggaag acctttatgc catcattagt ggttaagaag caacgagcaa
     1201 aaaacctttc tgtaggctga gacctctcgg tgcacctggt gaccctgggt ggaggggact
     1261 tgctgtgaag tcttcctcgc cctctgccct cttgctgctt ctccacattg ccaggaaaag
     1321 ctgctgacgc ctgccctcct ctcttgagtc gagggctgaa tctttctcct ctaagcagtc
     1381 tggtcaggaa ccttggtttc ttgagaggcc cccaagatgc cgcagctcca gggctcttcc
     1441 tcctcaccag aaatccctgg gcttccacaa tgtgaactca ctcattgtca ggtgtccgtg
     1501 gagtgttttt ggcatggtga cctgtctggg cccagcatgt tgcagatgtg tatttatgcg
     1561 caatggtatg catatctctg tgtgactgtc agtgttgcaa gctggctgga tccaaccatc
     1621 tcttctgaaa taatgcatcc aaagggttga tattctgggg gaggtcactg cagaaggatg
     1681 gaactgacct ttattcccca gtgggcagtt actgagcttt cctcctcaga gccatgctgg
     1741 cagccctggg acagagaacg gtgtggcttt ggctgcctct gcatggaatc ttgccccgga
     1801 ctcctgaaga ctgcacaagg aatgaggaag atcagggaca acctgggaac tgaataactt
     1861 tcaaagccag tgctcagctt ctctgctccg tactagcgtt tacaggtctt aattcaaacc
     1921 agatgcctgt actagttttt agaccccaag tcaacctttc tgagccacag cttcccgctg
     1981 ggaataatga tgcctgccct atctacctca cagacttgtt atgaggataa agtgagatta
     2041 aactgcctca aagtgc
//
LOCUS       NM_001013845            1333 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens endothelium and lymphocyte associated ASCH domain 2
            (EOLA2), mRNA.
ACCESSION   NM_001013845
VERSION     NM_001013845.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1333)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   2  (bases 1 to 1333)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer
            M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL,
            Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME,
            Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R,
            Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson
            A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler
            DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S,
            Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker
            GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O,
            Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman
            AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P,
            Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel
            L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z,
            Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S,
            Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS,
            Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O,
            Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H,
            Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T,
            Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis
            F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner
            G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R,
            Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S,
            Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume
            J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de
            Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis
            P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK,
            Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM,
            Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J,
            Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl
            P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S,
            Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN,
            Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S,
            Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey
            Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG,
            Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD,
            Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann
            RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K,
            Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M,
            Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry
            GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey
            DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L,
            Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S,
            Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A,
            Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM,
            Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R,
            Hubbard T, Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   3  (bases 1 to 1333)
  AUTHORS   Timms KM, Bondeson ML, Ansari-Lari MA, Lagerstedt K, Muzny DM,
            Dugan-Rocha SP, Nelson DL, Pettersson U and Gibbs RA.
  TITLE     Molecular and phenotypic variation in patients with severe Hunter
            syndrome
  JOURNAL   Hum Mol Genet 6 (3), 479-486 (1997)
   PUBMED   9147653
REFERENCE   4  (bases 1 to 1333)
  AUTHORS   Timms KM, Lu F, Shen Y, Pierson CA, Muzny DM, Gu Y, Nelson DL and
            Gibbs RA.
  TITLE     130 kb of DNA sequence reveals two new genes and a regional
            duplication distal to the human iduronate-2-sulfate sulfatase locus
  JOURNAL   Genome Res 5 (1), 71-78 (1995)
   PUBMED   8717057
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U66042.1, SRR1660803.273610.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370406.8/ ENSP00000359434.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM847839.1, U66042.1 and BC009523.1.
            On Nov 23, 2018 this sequence version replaced NM_001013845.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1333
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1333
                     /gene="EOLA2"
                     /gene_synonym="CXorf40B"
                     /note="endothelium and lymphocyte associated ASCH domain 2"
                     /db_xref="GeneID:541578"
                     /db_xref="HGNC:HGNC:17402"
     misc_feature    453..455
                     /gene="EOLA2"
                     /gene_synonym="CXorf40B"
                     /note="upstream in-frame stop codon"
     CDS             510..986
                     /gene="EOLA2"
                     /gene_synonym="CXorf40B"
                     /note="protein CXorf40B"
                     /codon_start=1
                     /product="protein EOLA2"
                     /protein_id="NP_001013867.1"
                     /db_xref="CCDS:CCDS35426.1"
                     /db_xref="GeneID:541578"
                     /db_xref="HGNC:HGNC:17402"
                     /translation="MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAH
                     RDWEGDACRELLVERLGMTPAQIQALLRKGEKFGRGVIAGLVDIGETLQCPEDLTPDEV
                     VELENQAALTNLKQKYLTVISNPRWLLEPIPRKGGKDVFQVDIPEHLIPLGHEV"
     regulatory      1314..1319
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EOLA2"
                     /gene_synonym="CXorf40B"
                     /note="hexamer: AATAAA"
     polyA_site      1333
                     /gene="EOLA2"
                     /gene_synonym="CXorf40B"
                     /note="major polyA site"
ORIGIN
        1 gcacacgtac gttcctcatg aaagggacga cgggagctgc atgaaagccg aagttatgga
       61 ccgctagcat ctgtcactgg ccaccggttt ccgggagtaa gcggcagcta ccttacagcc
      121 ctgacacgag ccgggtgctc tctcttctca ccgcggccca cgtctcctcg ctggctccgg
      181 tggcctcgct gggtcgcgag gaggcggagg actgtactct gaggccaaaa gccagagtcg
      241 gccctgaacg cccacgactc tcagggtcca gaggccgtga gaccggccgc ggctgaaagg
      301 taaagaaacc aagtggaaga gtgtttcctc ctctggccgt aaagcagctg tccccgccct
      361 actccggacc gccccaaaga ctccatggga tggacctgag tcagccgaat cctagcccct
      421 tcccttgggc ctgctgtggt gctcgacatc agtgacagac ggaagcagca gaccatcaag
      481 gctacgggag gcccggggcg cttgcgaaga tgaagtttgg ctgcctctcc ttccggcagc
      541 cttatgctgg ctttgtctta aatggaatca agactgtgga gacgcgctgg cgtcctctgc
      601 tgagcagcca gcggaactgt accatcgccg tccacattgc tcacagggac tgggaaggcg
      661 atgcctgtcg ggagctgctg gtggagagac tcgggatgac tcctgctcag attcaggcct
      721 tgctcaggaa aggggaaaag tttggtcgag gagtgatagc gggactcgtt gacattgggg
      781 aaactttgca atgccccgaa gacttaactc ccgatgaggt tgtggaacta gaaaatcaag
      841 ctgcactgac caacctgaag cagaagtacc tgactgtgat ttcaaacccc aggtggttac
      901 tggagcccat acctaggaaa ggaggcaagg atgtattcca ggtagacatc ccagagcacc
      961 tgatcccttt ggggcatgaa gtgtgacaag tgtgggctcc tgaaaggaat gttccagaga
     1021 aaccagctaa atcatggcac cttcaatttg ccatcgtgac gcagacctgt ataaattagg
     1081 ttaaagatga atttccactg ctttggagag tcccacccac taagcactgt gcatgtaaac
     1141 aggttccttt gctcagatga aggaagtagg gggtggggct ttccttgtgt gatgcctcct
     1201 taggcacaca ggcaatgtct caagtacttt gaccttaggg tagaaggcaa agctgccagt
     1261 aaatgtctca gcattgctgc taattttggt cctgctagtt tctggattgt acaaataaat
     1321 gtgttgtaga tga
//
LOCUS       NM_001014                588 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens ribosomal protein S10 (RPS10), transcript variant 2,
            mRNA.
ACCESSION   NM_001014
VERSION     NM_001014.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 588)
  AUTHORS   Li J, Su Y, Chen L, Lin Y and Ru K.
  TITLE     Identification of novel mutations in patients with Diamond-Blackfan
            anemia and literature review of RPS10 and RPS26 mutations
  JOURNAL   Int J Lab Hematol 45 (5), 766-773 (2023)
   PUBMED   37376976
  REMARK    GeneRIF: Identification of novel mutations in patients with
            Diamond-Blackfan anemia and literature review of RPS10 and RPS26
            mutations. Review article
REFERENCE   2  (bases 1 to 588)
  AUTHORS   Haimov O, Sinvani H, Martin F, Ulitsky I, Emmanuel R,
            Tamarkin-Ben-Harush A, Vardy A and Dikstein R.
  TITLE     Efficient and Accurate Translation Initiation Directed by TISU
            Involves RPS3 and RPS10e Binding and Differential Eukaryotic
            Initiation Factor 1A Regulation
  JOURNAL   Mol Cell Biol 37 (15), e00150-17 (2017)
   PUBMED   28584194
  REMARK    GeneRIF: Short 5'UTR mRNAs are enriched with TISU (translation
            initiator of short 5'UTR), a 12-nucleotide element directing
            efficient scanning-independent translation. This study demonstrate
            that TISU is particularly dependent on eukaryotic initiation factor
            1A (eIF1A) which interacts with both RPS3 and RPS10e. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 588)
  AUTHORS   Sundaramoorthy E, Leonard M, Mak R, Liao J, Fulzele A and Bennett
            EJ.
  TITLE     ZNF598 and RACK1 Regulate Mammalian Ribosome-Associated Quality
            Control Function by Mediating Regulatory 40S Ribosomal
            Ubiquitylation
  JOURNAL   Mol Cell 65 (4), 751-760 (2017)
   PUBMED   28132843
REFERENCE   4  (bases 1 to 588)
  AUTHORS   Juszkiewicz S and Hegde RS.
  TITLE     Initiation of Quality Control during Poly(A) Translation Requires
            Site-Specific Ribosome Ubiquitination
  JOURNAL   Mol Cell 65 (4), 743-750 (2017)
   PUBMED   28065601
REFERENCE   5  (bases 1 to 588)
  AUTHORS   Malygin AA, Shaulo DD and Karpova GG.
  TITLE     Proteins S7, S10, S16 and S19 of the human 40S ribosomal subunit are
            most resistant to dissociation by salt
  JOURNAL   Biochim Biophys Acta 1494 (3), 213-216 (2000)
   PUBMED   11121577
REFERENCE   6  (bases 1 to 588)
  AUTHORS   Pei L.
  TITLE     Pituitary tumor-transforming gene protein associates with ribosomal
            protein S10 and a novel human homologue of DnaJ in testicular cells
  JOURNAL   J Biol Chem 274 (5), 3151-3158 (1999)
   PUBMED   9915854
REFERENCE   7  (bases 1 to 588)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   8  (bases 1 to 588)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   9  (bases 1 to 588)
  AUTHORS   Frigerio JM, Dagorn JC and Iovanna JL.
  TITLE     Cloning, sequencing and expression of the L5, L21, L27a, L28, S5,
            S9, S10 and S29 human ribosomal protein mRNAs
  JOURNAL   Biochim Biophys Acta 1262 (1), 64-68 (1995)
   PUBMED   7772601
REFERENCE   10  (bases 1 to 588)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301769
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CD176128.1, CD177422.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03568911
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000648437.1/ ENSP00000497917.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BG940847.1, AL157372.18 and BC001032.2.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2018 this sequence version replaced NM_001014.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S10E family of ribosomal proteins. It is located in the
            cytoplasm. Variable expression of this gene in colorectal cancers
            compared to adjacent normal tissues has been observed, although no
            correlation between the level of expression and the severity of the
            disease has been found. As is typical for genes encoding ribosomal
            proteins, there are multiple processed pseudogenes of this gene
            dispersed through the genome. Alternate splicing results in
            multiple transcript variants that encode the same protein.
            Naturally occurring read-through transcription occurs between this
            locus and the neighboring locus NUDT3 (nudix (nucleoside
            diphosphate linked moiety X)-type motif 3).[provided by RefSeq, Feb
            2011].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..588
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..588
                     /gene="RPS10"
                     /gene_synonym="DBA9; eS10; S10"
                     /note="ribosomal protein S10"
                     /db_xref="GeneID:6204"
                     /db_xref="HGNC:HGNC:10383"
                     /db_xref="MIM:603632"
     CDS             39..536
                     /gene="RPS10"
                     /gene_synonym="DBA9; eS10; S10"
                     /note="40S ribosomal protein S10"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS10"
                     /protein_id="NP_001005.1"
                     /db_xref="CCDS:CCDS4792.1"
                     /db_xref="GeneID:6204"
                     /db_xref="HGNC:HGNC:10383"
                     /db_xref="MIM:603632"
                     /translation="MLMPKKNRIAIYELLFKEGVMVAKKDVHMPKHPELADKNVPNLHV
                     MKAMQSLKSRGYVKEQFAWRHFYWYLTNEGIQYLRDYLHLPPEIVPATLRRSRPETGRP
                     RPKGLEGERPARLTRGEADRDTYRRSAVPPGADKKAEAGAGSATEFQFRGGFGRGRGQP
                     PQ"
     misc_feature    72..74
                     /gene="RPS10"
                     /gene_synonym="DBA9; eS10; S10"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P63325; propagated from
                     UniProtKB/Swiss-Prot (P46783.1); phosphorylation site"
     misc_feature    312..533
                     /gene="RPS10"
                     /gene_synonym="DBA9; eS10; S10"
                     /note="propagated from UniProtKB/Swiss-Prot (P46783.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    474..476
                     /gene="RPS10"
                     /gene_synonym="DBA9; eS10; S10"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P63325; propagated from
                     UniProtKB/Swiss-Prot (P46783.1); phosphorylation site"
     misc_feature    495..497
                     /gene="RPS10"
                     /gene_synonym="DBA9; eS10; S10"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P63325; propagated from
                     UniProtKB/Swiss-Prot (P46783.1); methylation site"
     misc_feature    510..512
                     /gene="RPS10"
                     /gene_synonym="DBA9; eS10; S10"
                     /note="Symmetric dimethylarginine.
                     /evidence=ECO:0000269|PubMed:20159986; propagated from
                     UniProtKB/Swiss-Prot (P46783.1); methylation site"
     misc_feature    516..518
                     /gene="RPS10"
                     /gene_synonym="DBA9; eS10; S10"
                     /note="Symmetric dimethylarginine.
                     /evidence=ECO:0000269|PubMed:20159986; propagated from
                     UniProtKB/Swiss-Prot (P46783.1); methylation site"
     regulatory      562..567
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS10"
                     /gene_synonym="DBA9; eS10; S10"
                     /note="hexamer: AATAAA"
     polyA_site      588
                     /gene="RPS10"
                     /gene_synonym="DBA9; eS10; S10"
                     /note="major polyA site"
ORIGIN
        1 cctttccagc cccggtaccg gaccctgcag ccgcagagat gttgatgcct aagaagaacc
       61 ggattgccat ttatgaactc ctttttaagg agggagtcat ggtggccaag aaggatgtcc
      121 acatgcctaa gcacccggag ctggcagaca agaatgtgcc caaccttcat gtcatgaagg
      181 ccatgcagtc tctcaagtcc cgaggctacg tgaaggaaca gtttgcctgg agacatttct
      241 actggtacct taccaatgag ggtatccagt atctccgtga ttaccttcat ctgcccccgg
      301 agattgtgcc tgccacccta cgccgtagcc gtccagagac tggcaggcct cggcctaaag
      361 gtctggaggg tgagcgacct gcgagactca caagagggga agctgacaga gatacctaca
      421 gacggagtgc tgtgccacct ggtgccgaca agaaagccga ggctggggct gggtcagcaa
      481 ccgaattcca gtttagaggc ggatttggtc gtggacgtgg tcagccacct cagtaaaatt
      541 ggagaggatt cttttgcatt gaataaactt acagccaaaa aaccttaa
//
LOCUS       NM_001014279             949 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens annexin A2 receptor (ANXA2R), transcript variant 1,
            mRNA.
ACCESSION   NM_001014279
VERSION     NM_001014279.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 949)
  AUTHORS   Hubel P, Urban C, Bergant V, Schneider WM, Knauer B, Stukalov A,
            Scaturro P, Mann A, Brunotte L, Hoffmann HH, Schoggins JW, Schwemmle
            M, Mann M, Rice CM and Pichlmair A.
  TITLE     A protein-interaction network of interferon-stimulated genes extends
            the innate immune system landscape
  JOURNAL   Nat Immunol 20 (4), 493-502 (2019)
   PUBMED   30833792
REFERENCE   2  (bases 1 to 949)
  AUTHORS   Guo T, Song H, Zhao Z, Qi Z and Zhao S.
  TITLE     Overexpression of Annexin A2 Receptor Inhibits Neovascularization
            via the Promotion of Kruppel-Like Transcription Factor 2
  JOURNAL   Cell Physiol Biochem 46 (4), 1617-1627 (2018)
   PUBMED   29694949
  REMARK    GeneRIF: Overexpression of AX2R significantly inhibited cell
            proliferation, migration and tube formation in both types of
            endothelial cells and increased the expression of KLF2, mediating
            VEGF and VEGFR2.
REFERENCE   3  (bases 1 to 949)
  AUTHORS   Zhang J, Kong L, Guo S, Bu M, Guo Q, Xiong Y, Zhu N, Qiu C, Yan X,
            Chen Q, Zhang H, Zhuang J, Wang Q, Zhang SS, Shen Y and Chen M.
  TITLE     hnRNPs and ELAVL1 cooperate with uORFs to inhibit protein
            translation
  JOURNAL   Nucleic Acids Res 45 (5), 2849-2864 (2017)
   PUBMED   27789685
REFERENCE   4  (bases 1 to 949)
  AUTHORS   Zhang Y, Song H, Guo T, Zhu Y, Tang H, Qi Z, Zhao P and Zhao S.
  TITLE     Overexpression of Annexin II Receptor-Induced Autophagy Protects
            Against Apoptosis in Uveal Melanoma Cells
  JOURNAL   Cancer Biother Radiopharm 31 (4), 145-151 (2016)
   PUBMED   27183438
  REMARK    GeneRIF: Data highlighted the crucial role of AXIIR in reducing
            Mum2C cell viability through inducing apoptosis, while autophagy
            played a protective role in this process.
REFERENCE   5  (bases 1 to 949)
  AUTHORS   Song H, Pan D, Sun W, Gu C, Zhang Y, Zhao P, Qi Z and Zhao S.
  TITLE     SiRNA directed against annexin II receptor inhibits angiogenesis via
            suppressing MMP2 and MMP9 expression
  JOURNAL   Cell Physiol Biochem 35 (3), 875-884 (2015)
   PUBMED   25633185
  REMARK    GeneRIF: these subsequent effects might be via suppressing the
            expression of matrix metalloproteinase 2 and matrix
            metalloproteinase 9. ... AXIIR participates in angiogenesis, and may
            be a potential therapeutic target for angiogenesis related diseases
REFERENCE   6  (bases 1 to 949)
  AUTHORS   Xiong Y, Fan C, Kong L, Dong L, Zhu N, Zhang J, Wang L, Qin T, Shen
            Y and Chen M.
  TITLE     Annexin II receptor induces apoptosis independent of Annexin II
  JOURNAL   Apoptosis 18 (8), 925-939 (2013)
   PUBMED   23640736
  REMARK    GeneRIF: AXIIR acts as a novel inducer of apoptosis in human cells,
            partially through activating Caspase-8.
REFERENCE   7  (bases 1 to 949)
  AUTHORS   D'Souza S, Kurihara N, Shiozawa Y, Joseph J, Taichman R, Galson DL
            and Roodman GD.
  TITLE     Annexin II interactions with the annexin II receptor enhance
            multiple myeloma cell adhesion and growth in the bone marrow
            microenvironment
  JOURNAL   Blood 119 (8), 1888-1896 (2012)
   PUBMED   22223826
  REMARK    GeneRIF: Results show that AXII and AXIIR play important roles in
            multiple myeloma (MM) and that targeting the AXII/AXIIR axis may be
            a novel therapeutic approach for MM.
REFERENCE   8  (bases 1 to 949)
  AUTHORS   Shiozawa Y, Havens AM, Jung Y, Ziegler AM, Pedersen EA, Wang J, Wang
            J, Lu G, Roodman GD, Loberg RD, Pienta KJ and Taichman RS.
  TITLE     Annexin II/annexin II receptor axis regulates adhesion, migration,
            homing, and growth of prostate cancer
  JOURNAL   J Cell Biochem 105 (2), 370-380 (2008)
   PUBMED   18636554
  REMARK    GeneRIF: annexin II and its receptor axis play a central role in
            prostate cancer metastasis, and prostate cancer utilizes the
            hematopoietic stem cell homing mechanisms to gain access to the
            niche.
REFERENCE   9  (bases 1 to 949)
  AUTHORS   Lu G, Maeda H, Reddy SV, Kurihara N, Leach R, Anderson JL and
            Roodman GD.
  TITLE     Cloning and characterization of the annexin II receptor on human
            marrow stromal cells
  JOURNAL   J Biol Chem 281 (41), 30542-30550 (2006)
   PUBMED   16895901
  REMARK    GeneRIF: analysis of the annexin II receptor on human marrow stromal
            cells
REFERENCE   10  (bases 1 to 949)
  AUTHORS   Menaa C, Devlin RD, Reddy SV, Gazitt Y, Choi SJ and Roodman GD.
  TITLE     Annexin II increases osteoclast formation by stimulating the
            proliferation of osteoclast precursors in human marrow cultures
  JOURNAL   J Clin Invest 103 (11), 1605-1613 (1999)
   PUBMED   10359570
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AY032883.1, BC067873.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000616064.2/ ENSP00000479862.1
            RefSeq Select criteria :: based on manual assertion, longest protein
            regulatory uORF          :: PMID: 27789685
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC025171.8.
            On May 1, 2020 this sequence version replaced NM_001014279.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..949
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p12"
     gene            1..949
                     /gene="ANXA2R"
                     /gene_synonym="AX2R; AXIIR; C5orf39"
                     /note="annexin A2 receptor"
                     /db_xref="GeneID:389289"
                     /db_xref="HGNC:HGNC:33463"
                     /db_xref="MIM:611296"
     regulatory      50..214
                     /regulatory_class="uORF"
                     /gene="ANXA2R"
                     /gene_synonym="AX2R; AXIIR; C5orf39"
                     /experiment="DESCRIPTION:regulatory uORF[PMID: 27789685]"
                     /note="this uORF is predicted to encode a 54 aa peptide
                     (PMID:27789685)"
     regulatory      101..214
                     /regulatory_class="uORF"
                     /gene="ANXA2R"
                     /gene_synonym="AX2R; AXIIR; C5orf39"
                     /experiment="DESCRIPTION:regulatory uORF[PMID: 27789685]"
                     /note="this uORF is predicted to encode a 37 aa peptide
                     (PMID:27789685)"
     misc_feature    268..270
                     /gene="ANXA2R"
                     /gene_synonym="AX2R; AXIIR; C5orf39"
                     /note="upstream in-frame stop codon"
     CDS             274..855
                     /gene="ANXA2R"
                     /gene_synonym="AX2R; AXIIR; C5orf39"
                     /note="annexin II receptor"
                     /codon_start=1
                     /product="annexin-2 receptor"
                     /protein_id="NP_001014301.1"
                     /db_xref="CCDS:CCDS34153.1"
                     /db_xref="GeneID:389289"
                     /db_xref="HGNC:HGNC:33463"
                     /db_xref="MIM:611296"
                     /translation="MEQHFLGCVKRAWDSAEVAPEPQPPPIVSSEDRGPWPLPLYPVLG
                     EYSLDSCDLGLLSSPCWRLPGVYWQNGLSPGVQSTLEPSTAKPTEFSWPGTQKQQEAPV
                     EEVGQAEEPDRLRLQQLPWSSPLHPWDRQQDTEVCDSGCLLERRHPPALQPWRHLPGFS
                     DCLEWILRVGFAAFSVLWACCSRICGAKQP"
     misc_feature    505..606
                     /gene="ANXA2R"
                     /gene_synonym="AX2R; AXIIR; C5orf39"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3ZCQ2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      927..932
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANXA2R"
                     /gene_synonym="AX2R; AXIIR; C5orf39"
                     /note="hexamer: AATAAA"
     polyA_site      949
                     /gene="ANXA2R"
                     /gene_synonym="AX2R; AXIIR; C5orf39"
                     /note="major polyA site"
ORIGIN
        1 ctcttcaaga tttgcttagt gtcatttcat ttcggtttct tttctcgcca tgtttttctg
       61 tcggaattac ggttcgtttt ggttctatgt actctctaaa atgttatcgt ttttcatttg
      121 tctactaatt ttcgtgcatt tgttactact gagtttctta atatctgact ggcctccgcc
      181 cacgggctct gcagagcata aatactcagg ctgatggtag tgcagagact ctccctcctt
      241 gatcagcgca aacgttggtc tgaggcttga gggatggagc aacattttct tggctgtgtg
      301 aagcgggctt gggattccgc agaggtggcg ccagagcccc agcctccacc tattgtgagt
      361 tcagaagatc gtgggccgtg gcctcttcct ttgtatccag tactaggaga gtactcactg
      421 gacagctgtg atttgggact gctttccagc ccttgctggc ggctgcccgg agtctactgg
      481 caaaacggac tctctcctgg agtccagagc accttggaac caagtacagc gaagcccact
      541 gagttcagtt ggccggggac acagaagcag caagaggcac ccgtagaaga ggtggggcag
      601 gcagaggaac ccgacagact caggctccag cagcttccct ggagcagtcc tctccatccc
      661 tgggacagac agcaggacac cgaggtctgt gacagcgggt gccttttgga acgccgccat
      721 cctcctgccc tccagccgtg gcgccacctc ccgggtttct cagactgcct ggagtggatt
      781 cttcgcgttg gttttgccgc gttctctgta ctctgggcgt gctgttcacg gatctgtgga
      841 gctaagcagc cttagatagc agcagaaggc tttttggatt ctcctccttg aaaagattct
      901 cagttaccaa acgtctccac ctagaaaata aaaatacatt aagatgtgc
//
LOCUS       NM_001014283            3032 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens defective in cullin neddylation 1 domain containing 2
            (DCUN1D2), mRNA.
ACCESSION   NM_001014283
VERSION     NM_001014283.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3032)
  AUTHORS   Keuss MJ, Thomas Y, Mcarthur R, Wood NT, Knebel A and Kurz T.
  TITLE     Characterization of the mammalian family of DCN-type NEDD8 E3
            ligases
  JOURNAL   J Cell Sci 129 (7), 1441-1454 (2016)
   PUBMED   26906416
REFERENCE   2  (bases 1 to 3032)
  AUTHORS   Monda JK, Scott DC, Miller DJ, Lydeard J, King D, Harper JW, Bennett
            EJ and Schulman BA.
  TITLE     Structural conservation of distinctive N-terminal
            acetylation-dependent interactions across a family of mammalian
            NEDD8 ligation enzymes
  JOURNAL   Structure 21 (1), 42-53 (2013)
   PUBMED   23201271
REFERENCE   3  (bases 1 to 3032)
  AUTHORS   Meyer-Schaller N, Chou YC, Sumara I, Martin DD, Kurz T, Katheder N,
            Hofmann K, Berthiaume LG, Sicheri F and Peter M.
  TITLE     The human Dcn1-like protein DCNL3 promotes Cul3 neddylation at
            membranes
  JOURNAL   Proc Natl Acad Sci U S A 106 (30), 12365-12370 (2009)
   PUBMED   19617556
REFERENCE   4  (bases 1 to 3032)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   5  (bases 1 to 3032)
  AUTHORS   Kurz T, Ozlu N, Rudolf F, O'Rourke SM, Luke B, Hofmann K, Hyman AA,
            Bowerman B and Peter M.
  TITLE     The conserved protein DCN-1/Dcn1p is required for cullin neddylation
            in C. elegans and S. cerevisiae
  JOURNAL   Nature 435 (7046), 1257-1261 (2005)
   PUBMED   15988528
REFERENCE   6  (bases 1 to 3032)
  AUTHORS   Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ,
            Beare DM, Burford DC, Hunt SE, Griffiths-Jones S, Jones MC, Keenan
            SJ, Oliver K, Scott CE, Ainscough R, Almeida JP, Ambrose KD, Andrews
            DT, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Bannerjee R,
            Barlow KF, Bates K, Beasley H, Bird CP, Bray-Allen S, Brown AJ,
            Brown JY, Burrill W, Carder C, Carter NP, Chapman JC, Clamp ME,
            Clark SY, Clarke G, Clee CM, Clegg SC, Cobley V, Collins JE, Corby
            N, Coville GJ, Deloukas P, Dhami P, Dunham I, Dunn M, Earthrowl ME,
            Ellington AG, Faulkner L, Frankish AG, Frankland J, French L, Garner
            P, Garnett J, Gilbert JG, Gilson CJ, Ghori J, Grafham DV, Gribble
            SM, Griffiths C, Hall RE, Hammond S, Harley JL, Hart EA, Heath PD,
            Howden PJ, Huckle EJ, Hunt PJ, Hunt AR, Johnson C, Johnson D, Kay M,
            Kimberley AM, King A, Laird GK, Langford CJ, Lawlor S,
            Leongamornlert DA, Lloyd DM, Lloyd C, Loveland JE, Lovell J, Martin
            S, Mashreghi-Mohammadi M, McLaren SJ, McMurray A, Milne S, Moore MJ,
            Nickerson T, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B,
            Porter KM, Rice CM, Searle S, Sehra HK, Shownkeen R, Skuce CD, Smith
            M, Steward CA, Sycamore N, Tester J, Thomas DW, Tracey A, Tromans A,
            Tubby B, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL,
            Wilming L, Wray PW, Wright MW, Young L, Coulson A, Durbin R, Hubbard
            T, Sulston JE, Beck S, Bentley DR, Rogers J and Ross MT.
  TITLE     The DNA sequence and analysis of human chromosome 13
  JOURNAL   Nature 428 (6982), 522-528 (2004)
   PUBMED   15057823
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.79048.1,
            SRR1803613.91220.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000478244.6/ ENSP00000417706.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL442125.13, BM836766.1, AK001566.1 and AK000099.1.
            On Nov 22, 2018 this sequence version replaced NM_001014283.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3032
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     gene            1..3032
                     /gene="DCUN1D2"
                     /gene_synonym="C13orf17; DCNL2"
                     /note="defective in cullin neddylation 1 domain containing
                     2"
                     /db_xref="GeneID:55208"
                     /db_xref="HGNC:HGNC:20328"
     CDS             43..822
                     /gene="DCUN1D2"
                     /gene_synonym="C13orf17; DCNL2"
                     /note="DCUN1 domain-containing protein 2; defective in
                     cullin neddylation protein 1-like protein 2; DCN1,
                     defective in cullin neddylation 1, domain containing 2"
                     /codon_start=1
                     /product="DCN1-like protein 2"
                     /protein_id="NP_001014305.1"
                     /db_xref="CCDS:CCDS32013.1"
                     /db_xref="GeneID:55208"
                     /db_xref="HGNC:HGNC:20328"
                     /translation="MHKLKSSQKDKVRQFMACTQAGERTAIYCLTQNEWRLDEATDSFF
                     QNPDSLHRESMRNAVDKKKLERLYGRYKDPQDENKIGVDGIQQFCDDLSLDPASISVLV
                     IAWKFRAATQCEFSRKEFLDGMTELGCDSMEKLKALLPRLEQELKDTAKFKDFYQFTFT
                     FAKNPGQKGLDLEMAVAYWKLVLSGRFKFLDLWNTFLMEHHKRSIPRDTWNLLLDFGNM
                     IADDMSNYDEEGAWPVLIDDFVEYARPVVTGGKRSLF"
     misc_feature    205..207
                     /gene="DCUN1D2"
                     /gene_synonym="C13orf17; DCNL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BZJ7; propagated from
                     UniProtKB/Swiss-Prot (Q6PH85.1); phosphorylation site"
     regulatory      3012..3017
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCUN1D2"
                     /gene_synonym="C13orf17; DCNL2"
                     /note="hexamer: ATTAAA"
     polyA_site      3032
                     /gene="DCUN1D2"
                     /gene_synonym="C13orf17; DCNL2"
                     /note="major polyA site"
ORIGIN
        1 gcagaaggcc ggggccggcc agaagcgggc ggcgcggggg agatgcataa gcttaaatcg
       61 tctcagaagg acaaggtccg ccagtttatg gcgtgcactc aggctggcga gagaactgct
      121 atctactgct taacgcagaa tgagtggaga ctagacgagg ccacggacag cttcttccaa
      181 aacccagact cgctccacag ggagtccatg cggaacgctg tggacaagaa gaagctggag
      241 cggctgtacg gcaggtacaa agatccacaa gatgaaaaca aaattggagt cgatgggatt
      301 caacagtttt gtgatgatct gagcctggat cctgccagta tcagtgtatt ggtcatagcg
      361 tggaagttca gggcagcaac tcagtgtgaa tttagcagaa aggaatttct agatggcatg
      421 acagaacttg ggtgtgacag catggagaag ctaaaggctc ttctgccaag actggagcag
      481 gagctgaagg acacagccaa gtttaaagat ttttatcagt ttaccttcac cttcgctaag
      541 aacccagggc agaaaggttt agacttagaa atggctgttg cgtattggaa attagtgtta
      601 tctggaaggt ttaaattttt agatctctgg aacacattct taatggaaca tcacaaaaga
      661 tcaattccaa gggacacctg gaacctcctg ctggactttg gaaacatgat tgcggatgat
      721 atgtctaact acgatgaaga aggagcttgg cccgttctta tagatgattt tgtagaatat
      781 gcacggccag tagtcacagg tggaaaacgc agccttttct aggcagcaag ttaagcagga
      841 gtaagattat gaaatgattt gtatcctgca aggagattgc agtcagttcc tgggtgcatt
      901 gtcgctgatt ccagaagtca ttcttgacca gccatgaaac cagaggcgcc atcccattct
      961 gccggaggac agccagcggc tgctttgtgg acaccgcagg aagttcctcg ggacacggct
     1021 gctttgggat gtttggagat ttgtcatcat agcttttgcg ttaggaaatt tctgcatgat
     1081 tttttaatat ttacaaaata ctaaggtaga gccatagcgc cgcctgtggg accgcagagc
     1141 atgctgcgta gctcgcgcgt caggcgaacc agcgtccggc agcgtcccgc cgaatgacgt
     1201 tgcggtggca ctggcaacac ggcatgtgtc ctctgcaggg cgctgcgttt ttatacacgt
     1261 caaagctgtt aagaatgtgc cctaagggag aggatcttgt cgtagagtct aatgtttttt
     1321 aaaattggtg ccagcaattc acgatttata ttttttgaat taccaaatat ctagatttac
     1381 cagctctatt tttgttttca ttttctctag acattcatct gaaaatcatt ttatggttct
     1441 caatccccat gtagctttgc atagcaacgg cacacgtggc acgattccag cagagtttat
     1501 ctcacaccgt ttatatatca ctgggcctct cttacttaaa tattatttga cctgcctgag
     1561 aagcttcata aagtatgttt ttttaaaata tattttaatt acatttaaaa agacattttt
     1621 ccatgaaaaa catttatttt atgagtgatg aattatagat tttaaaatca aggccgggcg
     1681 tggtggctca cacctgtaat cccagcattt tgggaggccg aggcaggtgg atcacctgag
     1741 gtcaggagtt tgagaccagc ctggccaaca tggtgaaacc ctgtctctac taaaaataca
     1801 aaaattagcc gggcatggtg gcacatgcct gtaatcccag ctactcagga ggctgaggca
     1861 ggagattcgc ttgaactcag gagacggagg ttacagtgag tcgagatcgc gccactgcac
     1921 tccagcctgg acgacagagt gagattctgt ctcaaaataa atacatacat acatacaata
     1981 aaaccgaatg agctggttct ttccatcctc ttgtggtacc cgtagtgccc agcatccaga
     2041 cctttgtgcc cctgtgcaca tttggaagct aaaatgtaca tcgttgtctg aaaaaaccca
     2101 accccaaaac cttcatctga ttggtgagct gaagtctgtc cttgcaccat gttatcatct
     2161 gtttctcgtg tccgcctggt tgaggaggac ccacgagtgc tgccgaggtg tggagggctg
     2221 gtattgagtt gtggacatca ctgttgaccc tacctcacgt gccgagactc tcatgtcaca
     2281 ggcgtgcctt gctgcccccc tgcagcactg tgcaggacgt ggaccagctg gagctgctgc
     2341 ccagcacaga ggagagtcgc cgcagatgac ctagctgcgg tgtgagagag catggcccag
     2401 acaagcagct gggttggctt ctgagaacag gacttaccct gggcttcagg aacatctgat
     2461 ggctgaggtt agtgtgcttg gaggctgcag gacgaactgt cgatgtttct tagcagagat
     2521 ggtcacagag ggcagcaggg acaggactgg aagggacctg cagcctgcag accccgcctg
     2581 gcccccgctg gcttctggct ggtccagtga tgggcaagtg acagaccttc cccaggctct
     2641 gcttccagaa ctctaatggg aaactgggcc tgtctacctt tagaagtctt cgattctcag
     2701 agagcatttg tctaatacaa taaaaactgg cattaataca aacctcaaaa acgtgagcgt
     2761 atcttccagg cttcatggat tcttgacatg taattgtttt gttcagaaaa gtttatagaa
     2821 ttcacataat tctgtataaa ctatggagat ccacagtact tttttgtttt tgagatttaa
     2881 agttctaagg gattgtcaat agatatcaaa atattaatca ttggacaaag gcttttccaa
     2941 aaattgtggg tttttttctt ctgttgtatc catttgagtc ctgcatgctg tgaaatgctg
     3001 agaacagaag cattaaattg gtttttctcg gg
//
LOCUS       NM_001014286            2923 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens SPT20 homolog, SAGA complex component (SUPT20H),
            transcript variant 1, mRNA.
ACCESSION   NM_001014286
VERSION     NM_001014286.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2923)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2923)
  AUTHORS   Arata Y, Watanabe A, Motosugi R, Iemura SI, Natsume T, Mukai K,
            Taguchi T, Hirayama S, Hamazaki J and Murata S.
  TITLE     FAM48A mediates compensatory autophagy induced by proteasome
            impairment
  JOURNAL   Genes Cells 24 (8), 559-568 (2019)
   PUBMED   31210371
  REMARK    GeneRIF: Our results indicate that FAM48A is a kind of sensor that
            is required for compensatory autophagy induction upon proteasome
            impairment.
REFERENCE   3  (bases 1 to 2923)
  AUTHORS   Lin Y, Mallen-St Clair J, Wang G, Luo J, Palma-Diaz F, Lai C,
            Elashoff DA, Sharma S, Dubinett SM and St John M.
  TITLE     p38 MAPK mediates epithelial-mesenchymal transition by regulating
            p38IP and Snail in head and neck squamous cell carcinoma
  JOURNAL   Oral Oncol 60, 81-89 (2016)
   PUBMED   27531877
  REMARK    GeneRIF: provide the first report that p38-p38IP is required for the
            Snail-induced E-cadherin down-regulation and cell invasion in HNSCC
REFERENCE   4  (bases 1 to 2923)
  AUTHORS   Liu X, Xiao W, Wang XD, Li YF, Han J and Li Y.
  TITLE     The p38-interacting protein (p38IP) regulates G2/M progression by
            promoting alpha-tubulin acetylation via inhibiting
            ubiquitination-induced degradation of the acetyltransferase GCN5
  JOURNAL   J Biol Chem 288 (51), 36648-36661 (2013)
   PUBMED   24220028
  REMARK    GeneRIF: p38IP inhibits ubiquitination-induced GCN5 degradation and
            therefore promotes alpha-tubulin acetylation, facilitating spindle
            formation and G2/M progression.
REFERENCE   5  (bases 1 to 2923)
  AUTHORS   Wang J, Huo K, Ma L, Tang L, Li D, Huang X, Yuan Y, Li C, Wang W,
            Guan W, Chen H, Jin C, Wei J, Zhang W, Yang Y, Liu Q, Zhou Y, Zhang
            C, Wu Z, Xu W, Zhang Y, Liu T, Yu D, Zhang Y, Chen L, Zhu D, Zhong
            X, Kang L, Gan X, Yu X, Ma Q, Yan J, Zhou L, Liu Z, Zhu Y, Zhou T,
            He F and Yang X.
  TITLE     Toward an understanding of the protein interaction network of the
            human liver
  JOURNAL   Mol Syst Biol 7, 536 (2011)
   PUBMED   21988832
  REMARK    Erratum:[Mol Syst Biol. 2017 Dec 18;13(12 ):965. PMID: 29254952]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2923)
  AUTHORS   Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X,
            Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X, Xu
            H, Guo M, Pan Z, Chen Y, Ge C, Yang S and Gu J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   7  (bases 1 to 2923)
  AUTHORS   Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ,
            Beare DM, Burford DC, Hunt SE, Griffiths-Jones S, Jones MC, Keenan
            SJ, Oliver K, Scott CE, Ainscough R, Almeida JP, Ambrose KD, Andrews
            DT, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Bannerjee R,
            Barlow KF, Bates K, Beasley H, Bird CP, Bray-Allen S, Brown AJ,
            Brown JY, Burrill W, Carder C, Carter NP, Chapman JC, Clamp ME,
            Clark SY, Clarke G, Clee CM, Clegg SC, Cobley V, Collins JE, Corby
            N, Coville GJ, Deloukas P, Dhami P, Dunham I, Dunn M, Earthrowl ME,
            Ellington AG, Faulkner L, Frankish AG, Frankland J, French L, Garner
            P, Garnett J, Gilbert JG, Gilson CJ, Ghori J, Grafham DV, Gribble
            SM, Griffiths C, Hall RE, Hammond S, Harley JL, Hart EA, Heath PD,
            Howden PJ, Huckle EJ, Hunt PJ, Hunt AR, Johnson C, Johnson D, Kay M,
            Kimberley AM, King A, Laird GK, Langford CJ, Lawlor S,
            Leongamornlert DA, Lloyd DM, Lloyd C, Loveland JE, Lovell J, Martin
            S, Mashreghi-Mohammadi M, McLaren SJ, McMurray A, Milne S, Moore MJ,
            Nickerson T, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B,
            Porter KM, Rice CM, Searle S, Sehra HK, Shownkeen R, Skuce CD, Smith
            M, Steward CA, Sycamore N, Tester J, Thomas DW, Tracey A, Tromans A,
            Tubby B, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL,
            Wilming L, Wray PW, Wright MW, Young L, Coulson A, Durbin R, Hubbard
            T, Sulston JE, Beck S, Bentley DR, Rogers J and Ross MT.
  TITLE     The DNA sequence and analysis of human chromosome 13
  JOURNAL   Nature 428 (6982), 522-528 (2004)
   PUBMED   15057823
REFERENCE   8  (bases 1 to 2923)
  AUTHORS   Gomes I, Sharma TT, Edassery S, Fulton N, Mar BG and Westbrook CA.
  TITLE     Novel transcription factors in human CD34 antigen-positive
            hematopoietic cells
  JOURNAL   Blood 100 (1), 107-119 (2002)
   PUBMED   12070015
  REMARK    GeneRIF: Novel transcription factors identified in human CD34
            antigen-positive hematopoietic stem cells.
REFERENCE   9  (bases 1 to 2923)
  AUTHORS   Martinez E, Palhan VB, Tjernberg A, Lymar ES, Gamper AM, Kundu TK,
            Chait BT and Roeder RG.
  TITLE     Human STAGA complex is a chromatin-acetylating transcription
            coactivator that interacts with pre-mRNA splicing and DNA
            damage-binding factors in vivo
  JOURNAL   Mol Cell Biol 21 (20), 6782-6795 (2001)
   PUBMED   11564863
REFERENCE   10  (bases 1 to 2923)
  AUTHORS   Schmidt U, Fiedler U, Pilarsky CP, Ehlers W, Fussel S, Haase M,
            Faller G, Sauter G and Wirth MP.
  TITLE     Identification of a novel gene on chromosome 13 between BRCA-2 and
            RB-1
  JOURNAL   Prostate 47 (2), 91-101 (2001)
   PUBMED   11340631
  REMARK    GeneRIF: mRNA is down-regulated in human prostate cancer, also
            described as C13
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC030686.2, SRR18074969.3685803.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000350612.11/ ENSP00000218894.10
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL391383.15 and AL138706.9.
            On Nov 22, 2018 this sequence version replaced NM_001014286.2.
            Transcript Variant: This variant (1) differs in the 5' UTR, has an
            alternate splice site in the 5' coding region and an additional
            exon in the 3' coding region which results in a frameshift,
            compared to variant 2. The resulting isoform (a) is longer; it
            lacks an internal aa in the N-terminal region, but has a longer and
            distinct C-terminus, compared to isoform b.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2923
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.3"
     gene            1..2923
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /note="SPT20 homolog, SAGA complex component"
                     /db_xref="GeneID:55578"
                     /db_xref="HGNC:HGNC:20596"
                     /db_xref="MIM:613417"
     misc_feature    185..187
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /note="upstream in-frame stop codon"
     CDS             224..2563
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /note="isoform a is encoded by transcript variant 1;
                     transcription factor (p38 interacting protein); suppressor
                     of Ty 20 homolog; tumor rejection antigen; protein FAM48A;
                     family with sequence similarity 48, member A; transcription
                     factor SPT20 homolog"
                     /codon_start=1
                     /product="transcription factor SPT20 homolog isoform a"
                     /protein_id="NP_001014308.2"
                     /db_xref="CCDS:CCDS31959.1"
                     /db_xref="GeneID:55578"
                     /db_xref="HGNC:HGNC:20596"
                     /db_xref="MIM:613417"
                     /translation="MQQALELALDRAEYVIESARQRPPKRKYLSSGRKSVFQKLYDLYI
                     EECEKEPEVKKLRRNVNLLEKLVMQETLSCLVVNLYPGNEGYSLMLRGKNGSDSETIRL
                     PYEEGELLEYLDAEELPPILVDLLEKSQVNIFHCGCVIAEIRDYRQSSNMKSPGYQSRH
                     ILLRPTMQTLICDVHSITSDNHKWTQEDKLLLESQLILATAEPLCLDPSIAVTCTANRL
                     LYNKQKMNTRPMKRCFKRYSRSSLNRQQDLSHCPPPPQLRLLDFLQKRKERKAGQHYDL
                     KISKAGNCVDMWKRSPCNLAIPSEVDVEKYAKVEKSIKSDDSQPTVWPAHDVKDDYVFE
                     CEAGTQYQKTKLTILQSLGDPLYYGKIQPCKADEESDSQMSPSHSSTDDHSNWFIIGSK
                     TDAERVVNQYQELVQNEAKCPVKMSHSSSGSASLSQVSPGKETDQTETVSVQSSVLGKG
                     VKHRPPPIKLPSSSGNSSSGNYFTPQQTSSFLKSPTPPPSSKPSSIPRKSSVDLNQVSM
                     LSPAALSPASSSQRTTATQVMANSAGLNFINVVGSVCGAQALMSGSNPMLGCNTGAITP
                     AGINLSGLLPSGGLLPNALPSAMQAASQAGVPFGLKNTSSLRPLNLLQLPGGSLIFNTL
                     QQQQQQLSQFTPQQPQQPTTCSPQQPGEQGSEQGSTSQEQALSAQQAAVINLTGVGSFM
                     QSQAAVLSQLGSAENRPEQSLPQQRFQLSSAFQQQQQQIQQLRFLQHQMAMAAAAAQTA
                     QLHHHRHTGSQSKSKMKRGTPTTPKF"
     misc_feature    1109..1111
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7TT00; propagated from
                     UniProtKB/Swiss-Prot (Q8NEM7.2); phosphorylation site"
     misc_feature    1340..1399
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEM7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1481..1744
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEM7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1703..1705
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NEM7.2); phosphorylation site"
     misc_feature    1778..1780
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q8NEM7.2); phosphorylation site"
     misc_feature    1793..1795
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7TT00; propagated from
                     UniProtKB/Swiss-Prot (Q8NEM7.2); phosphorylation site"
     misc_feature    2144..2254
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEM7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2486..2560
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEM7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2714..2719
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /note="hexamer: AATAAA"
     polyA_site      2741
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /note="major polyA site"
     regulatory      2894..2899
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /note="hexamer: AATACA"
     polyA_site      2923
                     /gene="SUPT20H"
                     /gene_synonym="C13; C13orf19; FAM48A; FP757; P38IP; SPT20"
                     /note="major polyA site"
ORIGIN
        1 aatcggaagt gcggccgccg gaactggctg ttggtggggg tgcagcactg agccgccgac
       61 ggggcgggtg ggctttgctg ccgagcaggc ggcgccgtct tggggcctag cggcgaggcg
      121 acccgcacag tactgtaaga ttgatgttaa aggcatggtg ttcaccccac ttcatcagcg
      181 tacataagtt atctcttctt ttggaccctt attttatgcc ataatgcaac aagctttaga
      241 actagctttg gatcgtgcag agtatgtcat tgaaagtgcc cgacagagac ctcctaaaag
      301 gaaataccta tcaagtggaa gaaaatctgt atttcaaaaa ctttatgact tgtatattga
      361 agaatgtgaa aaagaacctg aagttaagaa attaagaaga aatgtgaact tgttagagaa
      421 gcttgttatg caagagactt tgtcatgttt agtggtcaat ctatacccag gaaatgaggg
      481 atattctctg atgctcaggg gaaaaaacgg atcagattcc gagaccattc gactgcccta
      541 tgaagaagga gagttgcttg aatatttgga tgcagaagaa ttacctccta ttttggttga
      601 tctcctagaa aaatctcagg ttaatatttt tcattgcgga tgtgtcatag cagaaatacg
      661 tgactacagg cagtccagta acatgaaatc tcctggttac caaagtcggc acattctctt
      721 acgtccaaca atgcagactt taatttgtga tgtacattca ataacaagtg ataaccacaa
      781 atggacccag gaagacaaac ttttgcttga gagccagctc atcctagcta cagctgaacc
      841 actctgtctt gatccttcta tagcagtcac ctgcactgca aacagactgc tctataacaa
      901 gcaaaagatg aacactcgcc caatgaaacg gtgtttcaag aggtattcca gatcctctct
      961 gaatcggcag caagatctat ctcattgtcc acctcctcct cagctgaggt tacttgattt
     1021 cttacaaaaa agaaaggaaa gaaaagcagg tcagcattat gacctcaaaa tttctaaggc
     1081 aggaaattgt gtagatatgt ggaaacggag tccctgtaat ttggccatac cttctgaagt
     1141 agatgtggag aaatatgcta aagtggaaaa gtctatcaaa tctgatgact cacagccaac
     1201 agtctggcca gcccatgatg taaaagatga ttatgtattt gaatgtgaag ctggtactca
     1261 gtatcagaaa acaaagctga ccatcttgca gtcgcttgga gatccacttt actatggtaa
     1321 aatacagcca tgtaaagcag atgaagaaag tgacagccag atgtctccat cacactcgtc
     1381 cacagatgat cattcaaatt ggttcattat tggatcaaag accgatgctg agagggtagt
     1441 caatcagtac caagaattag tccagaatga agccaaatgt ccggtcaaga tgtcacacag
     1501 ctccagtggc tcagccagtc tgagtcaggt ttctccaggg aaagaaacag atcaaactga
     1561 aaccgtgtca gttcagtctt cggtattggg gaagggtgta aaacatcgac ccccaccaat
     1621 caaacttccc tcaagctcag gaaatagttc ctcaggtaac tattttacac cacaacagac
     1681 aagcagcttt ctcaaatctc caactcctcc tccttcttct aagccatcaa gtattcctcg
     1741 gaaatcatct gtggatctca atcaagttag catgctttct ccagctgccc tatcacctgc
     1801 cagctcatca caaagaacca cggccaccca ggtcatggca aactctgctg gacttaactt
     1861 catcaatgta gtgggctctg tttgtggggc ccaggctttg atgagtggtt caaaccccat
     1921 gctgggctgt aacactggtg ccataactcc tgcaggaata aacctgagcg gccttctacc
     1981 ctcaggaggt ctgctaccaa atgcactgcc cagtgcaatg caggcagctt ctcaagcagg
     2041 tgttccattt ggtttaaaaa atacttcaag tctcaggccc ttaaatctac tccagcttcc
     2101 aggtggttca cttattttta acactctgca gcagcagcaa cagcagctct cccagtttac
     2161 accacaacaa cctcagcagc ccacaacttg tagtcctcaa cagccagggg agcagggttc
     2221 tgagcaaggt tcaaccagtc aagaacaggc cttatctgct cagcaagctg ctgttattaa
     2281 ccttactgga gtaggaagtt ttatgcagtc acaggcagct gtgttgtctc agcttggctc
     2341 tgccgagaac agacctgagc aaagccttcc tcagcagaga ttccagctct cctctgcctt
     2401 tcaacagcag cagcaacaga tacaacagtt gcgattcttg cagcatcaaa tggctatggc
     2461 agcagcagca gcacaaacag ctcagctaca tcatcatcgg catacaggca gccagtcaaa
     2521 aagtaaaatg aagagaggca cgccaaccac tccaaaattt tgagtcttgc attacttttt
     2581 gttccttttt taaaaacaca agagcactga atcaaaagaa ttgagtttct actttttgtt
     2641 ttttttaatg tgtcagtatt ttacattgct agatgtacaa actttataca gaagcacaac
     2701 cttatcattt ttaaataaaa acagggaaat ggtttaacaa actagggttg gtttgcctaa
     2761 gtcattgctt tttaaaaatg gtttcactat acataatata tatggaagtg acctaagaaa
     2821 taatagaaac atctttcaga agaatgtagt ttgatattta tttagtataa aacgtttgtg
     2881 cacagtgtta acaaatacaa tttttacaaa tctgttttga aaa
//
LOCUS       NM_001014291             589 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens small proline rich protein 2G (SPRR2G), mRNA.
ACCESSION   NM_001014291
VERSION     NM_001014291.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 589)
  AUTHORS   Micci F, Panagopoulos I, Haugom L, Dahlback HS, Pretorius ME,
            Davidson B, Abeler VM, Trope CG, Danielsen HE and Heim S.
  TITLE     Genomic aberration patterns and expression profiles of squamous cell
            carcinomas of the vulva
  JOURNAL   Genes Chromosomes Cancer 52 (6), 551-563 (2013)
   PUBMED   23404381
  REMARK    GeneRIF: High SPRR2G expression is associated with squamous cell
            carcinomas of the vulva.
REFERENCE   2  (bases 1 to 589)
  AUTHORS   Kainu K, Kivinen K, Zucchelli M, Suomela S, Kere J, Inerot A, Baker
            BS, Powles AV, Fry L, Samuelsson L and Saarialho-Kere U.
  TITLE     Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on
            1q shows heterogeneity between Finnish, Swedish and Irish families
  JOURNAL   Exp Dermatol 18 (2), 109-115 (2009)
   PUBMED   18643845
  REMARK    GeneRIF: Association of psoriasis to PGLYRP and SPRR genes at PSORS4
            locus on 1q shows heterogeneity between Finnish, Swedish and Irish
            families.
REFERENCE   3  (bases 1 to 589)
  AUTHORS   Hong SH, Nah HY, Lee JY, Lee YJ, Lee JW, Gye MC, Kim CH, Kang BM and
            Kim MK.
  TITLE     Estrogen regulates the expression of the small proline-rich 2 gene
            family in the mouse uterus
  JOURNAL   Mol Cells 17 (3), 477-484 (2004)
   PUBMED   15232223
REFERENCE   4  (bases 1 to 589)
  AUTHORS   Cabral A, Voskamp P, Cleton-Jansen AM, South A, Nizetic D and
            Backendorf C.
  TITLE     Structural organization and regulation of the small proline-rich
            family of cornified envelope precursors suggest a role in adaptive
            barrier function
  JOURNAL   J Biol Chem 276 (22), 19231-19237 (2001)
   PUBMED   11279051
REFERENCE   5  (bases 1 to 589)
  AUTHORS   Song HJ, Poy G, Darwiche N, Lichti U, Kuroki T, Steinert PM and
            Kartasova T.
  TITLE     Mouse Sprr2 genes: a clustered family of genes showing differential
            expression in epithelial tissues
  JOURNAL   Genomics 55 (1), 28-42 (1999)
   PUBMED   9888996
REFERENCE   6  (bases 1 to 589)
  AUTHORS   Gibbs S, Fijneman R, Wiegant J, van Kessel AG, van De Putte P and
            Backendorf C.
  TITLE     Molecular characterization and evolution of the SPRR family of
            keratinocyte differentiation markers encoding small proline-rich
            proteins
  JOURNAL   Genomics 16 (3), 630-637 (1993)
   PUBMED   8325635
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC130455.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368748.5/ ENSP00000357737.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC133041.1 and AL157405.10.
            On Nov 22, 2018 this sequence version replaced NM_001014291.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..589
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..589
                     /gene="SPRR2G"
                     /note="small proline rich protein 2G"
                     /db_xref="GeneID:6706"
                     /db_xref="HGNC:HGNC:11267"
                     /db_xref="MIM:617590"
     misc_feature    52..54
                     /gene="SPRR2G"
                     /note="upstream in-frame stop codon"
     CDS             61..282
                     /gene="SPRR2G"
                     /note="SPR-2G"
                     /codon_start=1
                     /product="small proline-rich protein 2G"
                     /protein_id="NP_001014313.1"
                     /db_xref="CCDS:CCDS30868.1"
                     /db_xref="GeneID:6706"
                     /db_xref="HGNC:HGNC:11267"
                     /db_xref="MIM:617590"
                     /translation="MSYQQQQCKQPCQPPPVCPTPKCPEPCPPPKCPEPYLPPPCPPEH
                     CPPPPCQDKCPPVQPYPPCQQKYPPKSK"
     misc_feature    61..120
                     /gene="SPRR2G"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYE4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    121..201
                     /gene="SPRR2G"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYE4.1);
                     Region: 3 X 9 AA approximate tandem repeats"
     regulatory      560..565
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPRR2G"
                     /note="hexamer: AATAAA"
     polyA_site      589
                     /gene="SPRR2G"
                     /note="major polyA site"
ORIGIN
        1 atcttcttgc cattcagttg tagatctttg aagactctga ttctctgaga ctgaggagag
       61 atgtcttacc agcagcagca gtgcaagcag ccctgccagc cacctcctgt gtgccccacg
      121 ccaaagtgcc cagagccatg tccacccccg aagtgccctg agccttacct gcctcctcct
      181 tgtccacctg agcattgccc acctccacca tgccaggata aatgccctcc tgtgcaacca
      241 tacccaccct gccagcagaa gtatccaccc aagagcaagt aacatcacta gaattcatca
      301 ggaccatgaa acaacaagat ccagtggctc ttcttactcc caggactcca tcatcttccc
      361 ttcagctgta gtgggaggct gcatcttccc taacctctgt ctggcttgag cgttgacaga
      421 gaaaaggctt agttctgaaa accgatatgt tgttggaaga tgagcagcca gatcactgcc
      481 taatctcgct ttgctgtctg tgatgtagat ggtggttcct atcctgagag caagtgtgtt
      541 tattcttttg cttctcccca ataaagcaca tgtttcatgg tcaagccca
//
LOCUS       NM_001014336             927 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens interleukin 31 (IL31), mRNA.
ACCESSION   NM_001014336
VERSION     NM_001014336.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 927)
  AUTHORS   Okuno S, Hashimoto T, Yamazaki Y, Okuzawa M and Satoh T.
  TITLE     IL-31 and IL-31 receptor alpha in pemphigus: Contributors to more
            than just itch?
  JOURNAL   J Dermatol 50 (7), 927-930 (2023)
   PUBMED   36651089
  REMARK    GeneRIF: IL-31 and IL-31 receptor alpha in pemphigus: Contributors
            to more than just itch?
REFERENCE   2  (bases 1 to 927)
  AUTHORS   Girolomoni G, Maurelli M and Gisondi P.
  TITLE     The emerging role of the neuroimmune cytokine interleukin-31 in
            chronic inflammatory skin diseases
  JOURNAL   Ital J Dermatol Venerol 157 (4), 306-312 (2022)
   PUBMED   35274883
  REMARK    GeneRIF: The emerging role of the neuroimmune cytokine
            interleukin-31 in chronic inflammatory skin diseases. Review article
REFERENCE   3  (bases 1 to 927)
  AUTHORS   Swierczynska K, Krajewski PK, Nowicka-Suszko D, Bialynicki-Birula R,
            Krajewska M and Szepietowski JC.
  TITLE     The Serum Level of IL-31 in Patients with Chronic Kidney
            Disease-Associated Pruritus: What Can We Expect?
  JOURNAL   Toxins (Basel) 14 (3), 197 (2022)
   PUBMED   35324695
  REMARK    GeneRIF: The Serum Level of IL-31 in Patients with Chronic Kidney
            Disease-Associated Pruritus: What Can We Expect? Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 927)
  AUTHORS   Kunimura K and Fukui Y.
  TITLE     The molecular basis for IL-31 production and IL-31-mediated itch
            transmission: from biology to drug development
  JOURNAL   Int Immunol 33 (12), 731-736 (2021)
   PUBMED   34491348
  REMARK    GeneRIF: The molecular basis for IL-31 production and IL-31-mediated
            itch transmission: from biology to drug development. Review article
REFERENCE   5  (bases 1 to 927)
  AUTHORS   Kuzumi A, Yoshizaki A, Matsuda KM, Kotani H, Norimatsu Y, Fukayama
            M, Ebata S, Fukasawa T, Yoshizaki-Ogawa A, Asano Y, Morikawa K,
            Kazoe Y, Mawatari K, Kitamori T and Sato S.
  TITLE     Interleukin-31 promotes fibrosis and T helper 2 polarization in
            systemic sclerosis
  JOURNAL   Nat Commun 12 (1), 5947 (2021)
   PUBMED   34642338
  REMARK    GeneRIF: Interleukin-31 promotes fibrosis and T helper 2
            polarization in systemic sclerosis. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 927)
  AUTHORS   Neis MM, Peters B, Dreuw A, Wenzel J, Bieber T, Mauch C, Krieg T,
            Stanzel S, Heinrich PC, Merk HF, Bosio A, Baron JM and Hermanns HM.
  TITLE     Enhanced expression levels of IL-31 correlate with IL-4 and IL-13 in
            atopic and allergic contact dermatitis
  JOURNAL   J Allergy Clin Immunol 118 (4), 930-937 (2006)
   PUBMED   17030248
REFERENCE   7  (bases 1 to 927)
  AUTHORS   Bilsborough J, Leung DY, Maurer M, Howell M, Boguniewicz M, Yao L,
            Storey H, LeCiel C, Harder B and Gross JA.
  TITLE     IL-31 is associated with cutaneous lymphocyte antigen-positive skin
            homing T cells in patients with atopic dermatitis
  JOURNAL   J Allergy Clin Immunol 117 (2), 418-425 (2006)
   PUBMED   16461143
  REMARK    GeneRIF: IL-31 expression is associated with CLA(+) T cells and
            might contribute to the development of atopic dermatitis-induced
            skin inflammation and pruritus Erratum:[J Allergy Clin Immunol. 2006
            May;117(5):1124. Boguniewcz, Mark [corrected to Boguniewicz, Mark]]
REFERENCE   8  (bases 1 to 927)
  AUTHORS   Sonkoly E, Muller A, Lauerma AI, Pivarcsi A, Soto H, Kemeny L,
            Alenius H, Dieu-Nosjean MC, Meller S, Rieker J, Steinhoff M,
            Hoffmann TK, Ruzicka T, Zlotnik A and Homey B.
  TITLE     IL-31: a new link between T cells and pruritus in atopic skin
            inflammation
  JOURNAL   J Allergy Clin Immunol 117 (2), 411-417 (2006)
   PUBMED   16461142
  REMARK    GeneRIF: Significantly upregulated in pruritic atopic dermatitis.
            These findings provide a new link among staphylococcal colonization,
            subsequent T-cell recruitment/activation, and pruritus induction in
            patients with atopic dermatitis.
REFERENCE   9  (bases 1 to 927)
  AUTHORS   Takaoka A, Arai I, Sugimoto M, Yamaguchi A, Tanaka M and Nakaike S.
  TITLE     Expression of IL-31 gene transcripts in NC/Nga mice with atopic
            dermatitis
  JOURNAL   Eur J Pharmacol 516 (2), 180-181 (2005)
   PUBMED   15925362
  REMARK    GeneRIF: Findings suggest that IL-31 may participate in the cause of
            itch sensation and promote scratching behavior in NC/Nga mice with
            atopic dermatitis.
REFERENCE   10  (bases 1 to 927)
  AUTHORS   Dillon SR, Sprecher C, Hammond A, Bilsborough J, Rosenfeld-Franklin
            M, Presnell SR, Haugen HS, Maurer M, Harder B, Johnston J, Bort S,
            Mudri S, Kuijper JL, Bukowski T, Shea P, Dong DL, Dasovich M, Grant
            FJ, Lockwood L, Levin SD, LeCiel C, Waggie K, Day H, Topouzis S,
            Kramer J, Kuestner R, Chen Z, Foster D, Parrish-Novak J and Gross
            JA.
  TITLE     Interleukin 31, a cytokine produced by activated T cells, induces
            dermatitis in mice
  JOURNAL   Nat Immunol 5 (7), 752-760 (2004)
   PUBMED   15184896
  REMARK    Erratum:[Nat Immunol. 2005 Jan;6(1):114]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY499343.1, BC132998.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA2148093, SAMEA2148874
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000377035.2/ ENSP00000366234.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC048338.29 and AY499343.1.
            On May 17, 2019 this sequence version replaced NM_001014336.1.
            Summary: IL31, which is made principally by activated Th2-type T
            cells, interacts with a heterodimeric receptor consisting of IL31RA
            (MIM 609510) and OSMR (MIM 601743) that is constitutively expressed
            on epithelial cells and keratinocytes. IL31 may be involved in the
            promotion of allergic skin disorders and in regulating other
            allergic diseases, such as asthma (Dillon et al., 2004 [PubMed
            15184896]).[supplied by OMIM, Mar 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..927
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..927
                     /gene="IL31"
                     /gene_synonym="IL-31"
                     /note="interleukin 31"
                     /db_xref="GeneID:386653"
                     /db_xref="HGNC:HGNC:19372"
                     /db_xref="MIM:609509"
     CDS             50..544
                     /gene="IL31"
                     /gene_synonym="IL-31"
                     /codon_start=1
                     /product="interleukin-31 precursor"
                     /protein_id="NP_001014358.1"
                     /db_xref="CCDS:CCDS31919.1"
                     /db_xref="GeneID:386653"
                     /db_xref="HGNC:HGNC:19372"
                     /db_xref="MIM:609509"
                     /translation="MASHSGPSTSVLFLFCCLGGWLASHTLPVRLLRPSDDVQKIVEEL
                     QSLSKMLLKDVEEEKGVLVSQNYTLPCLSPDAQPPNNIHSPAIRAYLKTIRQLDNKSVI
                     DEIIEHLDKLIFQDAPETNISVPTDTHECKRFILTISQQFSECMDLALKSLTSGAQQAT
                     T"
     sig_peptide     50..118
                     /gene="IL31"
                     /gene_synonym="IL-31"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    248..250
                     /gene="IL31"
                     /gene_synonym="IL-31"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6EBC2.1); glycosylation site"
     misc_feature    347..349
                     /gene="IL31"
                     /gene_synonym="IL-31"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6EBC2.1); glycosylation site"
ORIGIN
        1 catctggctc cagaagcccc cactgaagct ggccttgctc tctctcgcca tggcctctca
       61 ctcaggcccc tcgacgtctg tgctctttct gttctgctgc ctgggaggct ggctggcctc
      121 ccacacgttg cccgtccgtt tactacgacc aagtgatgat gtacagaaaa tagtcgagga
      181 attacagtcc ctctcgaaga tgcttttgaa agatgtggag gaagagaagg gcgtgctcgt
      241 gtcccagaat tacacgctgc cgtgtctcag ccctgacgcc cagccgccaa acaacatcca
      301 cagcccagcc atccgggcat atctcaagac aatcagacag ctagacaaca aatctgttat
      361 tgatgagatc atagagcacc tcgacaaact catatttcaa gatgcaccag aaacaaacat
      421 ttctgtgcca acagacaccc atgaatgtaa acgcttcatc ctgactattt ctcaacagtt
      481 ttcagagtgc atggacctcg cactaaaatc attgacctct ggagcccaac aggccaccac
      541 ttaaggccat ctcttccttt cggattggca ggaacttaag gagccttaaa aagatgaccg
      601 acagctaagt gtgggaactc tgccgtgatt ccttaagtac atttttccaa tgaataatct
      661 cagggacccc tcatatgggc tagtcccggg agggctgaga tgtgaatttg tgaattacct
      721 tgaaaaacat taggttattg ttattagtct tggtatttat ggaatgcttt tcttctgcag
      781 gcttaagtct tacttattat accctcgtga gggtgggagg tggcagctat gttaatttat
      841 tgatatttat tgtactaaga gttgtcaatg ctccctgggg gagccctcgg aatctattta
      901 ataaattata ttgaattttt ctcataa
//
LOCUS       NM_001014342            9124 bp    mRNA    linear   PRI 20-APR-2023
DEFINITION  Homo sapiens filaggrin 2 (FLG2), mRNA.
ACCESSION   NM_001014342
VERSION     NM_001014342.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9124)
  AUTHORS   Vergouwen DPC, Ten Berge JC, Guzel C, van den Bosch TPP, Verdijk RM,
            Rothova A, Luider TM and Schreurs MWJ.
  TITLE     Scleral Proteome in Noninfectious Scleritis Unravels Upregulation of
            Filaggrin-2 and Signs of Neovascularization
  JOURNAL   Invest Ophthalmol Vis Sci 64 (3), 27 (2023)
   PUBMED   36930145
  REMARK    GeneRIF: Scleral Proteome in Noninfectious Scleritis Unravels
            Upregulation of Filaggrin-2 and Signs of Neovascularization.
REFERENCE   2  (bases 1 to 9124)
  AUTHORS   Berna R, Mitra N, Hoffstad O, Wubbenhorst B, Nathanson KL and
            Margolis DJ.
  TITLE     Uncommon variants in FLG2 and TCHHL1 are associated with remission
            of atopic dermatitis in a large longitudinal US cohort
  JOURNAL   Arch Dermatol Res 314 (10), 953-959 (2022)
   PUBMED   34984527
  REMARK    GeneRIF: Uncommon variants in FLG2 and TCHHL1 are associated with
            remission of atopic dermatitis in a large longitudinal US cohort.
REFERENCE   3  (bases 1 to 9124)
  AUTHORS   Darbord D, Hickman G, Pironon N, Barbieux C, Bonnet-des-Claustres M,
            Titeux M, Miskinyte S, Cordoliani F, Vignon-Pennamen MD, Amode R,
            Hovnanian A and Bourrat E.
  TITLE     Dystrophic epidermolysis bullosa pruriginosa: a new case series of a
            rare phenotype unveils skewed Th2 immunity
  JOURNAL   J Eur Acad Dermatol Venereol 36 (1), 133-143 (2022)
   PUBMED   34543471
  REMARK    GeneRIF: Dystrophic epidermolysis bullosa pruriginosa: a new case
            series of a rare phenotype unveils skewed Th2 immunity.
REFERENCE   4  (bases 1 to 9124)
  AUTHORS   Donovan M, Salamito M, Thomas-Collignon A, Simonetti L, Desbouis S,
            Rain JC, Formstecher E and Bernard D.
  TITLE     Filaggrin and filaggrin 2 processing are linked together through
            skin aspartic acid protease activation
  JOURNAL   PLoS One 15 (5), e0232679 (2020)
   PUBMED   32437351
  REMARK    GeneRIF: Filaggrin and filaggrin 2 processing are linked together
            through skin aspartic acid protease activation. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 9124)
  AUTHORS   de Carvalho-Siqueira GQ, Ananina G, de Souza BB, Borges MG, Ito MT,
            da Silva-Costa SM, de Farias Domingos I, Falcao DA, Lopes-Cendes I,
            Bezerra MAC, da Silva Araujo A, Lucena-Araujo AR, de Souza Goncalves
            M, Saad STO, Costa FF and de Melo MB.
  TITLE     Whole-exome sequencing indicates FLG2 variant associated with leg
            ulcers in Brazilian sickle cell anemia patients
  JOURNAL   Exp Biol Med (Maywood) 244 (11), 932-939 (2019)
   PUBMED   31079484
  REMARK    GeneRIF: In a stop codon variant (rs12568784 G/T) in the FLG2 gene.
REFERENCE   6  (bases 1 to 9124)
  AUTHORS   Hansmann B, Schroder JM and Gerstel U.
  TITLE     Skin-Derived C-Terminal Filaggrin-2 Fragments Are Pseudomonas
            aeruginosa-Directed Antimicrobials Targeting Bacterial Replication
  JOURNAL   PLoS Pathog 11 (9), e1005159 (2015)
   PUBMED   26371476
  REMARK    GeneRIF: Data suggest that innate immunity of skin involves FLG2,
            which is expressed in high abundance in upper epidermis/eccrine
            sweat glands; C-terminal peptide fragments of FLG2 exhibit
            antimicrobial functions against replication of Pseudomonas
            aeruginosa and E. coli. Publication Status: Online-Only
REFERENCE   7  (bases 1 to 9124)
  AUTHORS   Pellerin L, Henry J, Hsu CY, Balica S, Jean-Decoster C, Mechin MC,
            Hansmann B, Rodriguez E, Weindinger S, Schmitt AM, Serre G, Paul C
            and Simon M.
  TITLE     Defects of filaggrin-like proteins in both lesional and nonlesional
            atopic skin
  JOURNAL   J Allergy Clin Immunol 131 (4), 1094-1102 (2013)
   PUBMED   23403047
REFERENCE   8  (bases 1 to 9124)
  AUTHORS   Hsu CY, Henry J, Raymond AA, Mechin MC, Pendaries V, Nassar D,
            Hansmann B, Balica S, Burlet-Schiltz O, Schmitt AM, Takahara H, Paul
            C, Serre G and Simon M.
  TITLE     Deimination of human filaggrin-2 promotes its proteolysis by calpain
            1
  JOURNAL   J Biol Chem 286 (26), 23222-23233 (2011)
   PUBMED   21531719
  REMARK    GeneRIF: calpain 1 is essential for the proteolytic processing of
            FLG2 and that deimination accelerates this process.
REFERENCE   9  (bases 1 to 9124)
  AUTHORS   Stemmler S, Nothnagel M, Parwez Q, Petrasch-Parwez E, Epplen JT and
            Hoffjan S.
  TITLE     Variation in genes of the epidermal differentiation complex in
            German atopic dermatitis patients
  JOURNAL   Int J Immunogenet 36 (4), 217-222 (2009)
   PUBMED   19601998
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10  (bases 1 to 9124)
  AUTHORS   Wu Z, Hansmann B, Meyer-Hoffert U, Glaser R and Schroder JM.
  TITLE     Molecular identification and expression analysis of filaggrin-2, a
            member of the S100 fused-type protein family
  JOURNAL   PLoS One 4 (4), e5227 (2009)
   PUBMED   19384417
  REMARK    GeneRIF: FLG2 and filaggrin may have overlapping and perhaps
            synergistic roles in the formation of the epidermal barrier,
            protecting the skin from environmental insults and the escape of
            moisture by offering precursors of natural moisturizing factors
COMMENT     ##Evidence-Data-START##
            Transcript exon combination        :: BX095286.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000388718.5/ ENSP00000373370.4
            Protein has antimicrobial activity :: PMID: 26371476
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY827490.1, AL356504.5,
            BX095286.1 and BC108269.1.
            On May 17, 2019 this sequence version replaced NM_001014342.2.
            Summary: The filaggrin-like protein encoded by this gene is
            upregulated by calcium, proteolyzed by calpain 1, and is involved
            in epithelial homeostasis. The encoded protein is required for
            proper cornification in skin, with defects in this gene being
            associated with skin diseases. This protein also has a function in
            skin barrier protection. In fact, in addition to providing a
            physical barrier, C-terminal fragments of this protein display
            antimicrobial activity against P. aeruginosa and E. coli. [provided
            by RefSeq, Jul 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..9124
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..9124
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="filaggrin 2"
                     /db_xref="GeneID:388698"
                     /db_xref="HGNC:HGNC:33276"
                     /db_xref="MIM:616284"
     misc_feature    59..61
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="upstream in-frame stop codon"
     CDS             74..7249
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="ifapsoriasin; intermediate filament-associated and
                     psoriasis susceptibility protein; filaggrin family member
                     2"
                     /codon_start=1
                     /product="filaggrin-2"
                     /protein_id="NP_001014364.1"
                     /db_xref="CCDS:CCDS30861.1"
                     /db_xref="GeneID:388698"
                     /db_xref="HGNC:HGNC:33276"
                     /db_xref="MIM:616284"
                     /translation="MTDLLRSVVTVIDVFYKYTKQDGECGTLSKGELKELLEKELHPVL
                     KNPDDPDTVDVIMHMLDRDHDRRLDFTEFLLMIFKLTMACNKVLSKEYCKASGSKKHRR
                     GHRHQEEESETEEDEEDTPGHKSGYRHSSWSEGEEHGYSSGHSRGTVKCRHGSNSRRLG
                     RQGNLSSSGNQEGSQKRYHRSSCGHSWSGGKDRHGSSSVELRERINKSHISPSRESGEE
                     YESGSGSNSWERKGHGGLSCGLETSGHESNSTQSRIREQKLGSSCSGSGDSGRRSHACG
                     YSNSSGCGRPQNASSSCQSHRFGGQGNQFSYIQSGCQSGIKGGQGHGCVSGGQPSGCGQ
                     PESNPCSQSYSQRGYGARENGQPQNCGGQWRTGSSQSSCCGQYGSGGSQSCSNGQHEYG
                     SCGRFSNSSSSNEFSKCDQYGSGSSQSTSFEQHGTGLSQSSGFEQHVCGSGQTCGQHES
                     TSSQSLGYDQHGSSSGKTSGFGQHGSGSGQSSGFGQCGSGSGQSSGFGQHGSVSGQSSG
                     FGQHGSVSGQSSGFGQHESRSRQSSYGQHGSGSSQSSGYGQYGSRETSGFGQHGLGSGQ
                     STGFGQYGSGSGQSSGFGQHGSGSGQSSGFGQHESRSGQSSYGQHSSGSSQSSGYGQHG
                     SRQTSGFGQHGSGSSQSTGFGQYGSGSGQSSGFGQHVSGSGQSSGFGQHESRSGHSSYG
                     QHGFGSSQSSGYGQHGSSSGQTSGFGQHELSSGQSSSFGQHGSGSGQSSGFGQHGSGSG
                     QSSGFGQHESRSGQSSYGQHSSGSSQSSGYGQHGSRQTSGFGQHGSGSSQSTGFGQYGS
                     GSGQSAGFGQHGSGSGQSSGFGQHESRSHQSSYGQHGSGSSQSSGYGQHGSSSGQTSGF
                     GQHRSSSGQYSGFGQHGSGSGQSSGFGQHGTGSGQYSGFGQHESRSHQSSYGQHGSGSS
                     QSSGYGQHGSSSGQTFGFGQHRSGSGQSSGFGQHGSGSGQSSGFGQHESGSGKSSGFGQ
                     HESRSSQSNYGQHGSGSSQSSGYGQHGSSSGQTTGFGQHRSSSGQYSGFGQHGSGSDQS
                     SGFGQHGTGSGQSSGFGQYESRSRQSSYGQHGSGSSQSSGYGQHGSNSGQTSGFGQHRP
                     GSGQSSGFGQYGSGSGQSSGFGQHGSGTGKSSGFAQHEYRSGQSSYGQHGTGSSQSSGC
                     GQHESGSGPTTSFGQHVSGSDNFSSSGQHISDSGQSTGFGQYGSGSGQSTGLGQGESQQ
                     VESGSTVHGRQETTHGQTINTTRHSQSGQGQSTQTGSRVTRRRRSSQSENSDSEVHSKV
                     SHRHSEHIHTQAGSHYPKSGSTVRRRQGTTHGQRGDTTRHGHSGHGQSTQTGSRTSGRQ
                     RFSHSDATDSEVHSGVSHRPHSQEQTHSQAGSQHGESESTVHERHETTYGQTGEATGHG
                     HSGHGQSTQRGSRTTGRRGSGHSESSDSEVHSGGSHRPQSQEQTHGQAGSQHGESGSTV
                     HGRHGTTHGQTGDTTRHAHYHHGKSTQRGSSTTGRRGSGHSESSDSEVHSGGSHTHSGH
                     THGQSGSQHGESESIIHDRHRITHGQTGDTTRHSYSGHEQTTQTGSRTTGRQRTSHSES
                     TDSEVHSGGSHRPHSREHTYGQAGSQHEEPEFTVHERHGTTHGQIGDTTGHSHSGHGQS
                     TQRGSRTTGRQRSSHSESSDSEVHSGVSHTHTGHTHGQAGSQHGQSESIVPERHGTTHG
                     QTGDTTRHAHYHHGLTTQTGSRTTGRRGSGHSEYSDSEGYSGVSHTHSGHTHGQARSQH
                     GESESIVHERHGTIHGQTGDTTRHAHSGHGQSTQTGSRTTGRRSSGHSEYSDSEGHSGF
                     SQRPHSRGHTHGQAGSQHGESESIVDERHGTTHGQTGDTSGHSQSGHGQSTQSGSSTTG
                     RRRSGHSESSDSEVHSGGSHTHSGHTHSQARSQHGESESTVHKRHQTTHGQTGDTTEHG
                     HPSHGQTIQTGSRTTGRRGSGHSEYSDSEGPSGVSHTHSGHTHGQAGSHYPESGSSVHE
                     RHGTTHGQTADTTRHGHSGHGQSTQRGSRTTGRRASGHSEYSDSEGHSGVSHTHSGHAH
                     GQAGSQHGESGSSVHERHGTTHGQTGDTTRHAHSGHGQSTQRGSRTAGRRGSGHSESSD
                     SEVHSGVSHTHSGHTYGQARSQHGESGSAIHGRQGTIHGQTGDTTRHGQSGHGQSTQTG
                     SRTTGRQRSSHSESSDSEVHSEASPTHSGHTHSQAGSRHGQSGSSGHGRQGTTHGQTGD
                     TTRHAHYGYGQSTQRGSRTTGRRGSGHSESSDSEVHSWGSHTHSGHIQGQAGSQQRQPG
                     STVHGRLETTHGQTGDTTRHGHSGYGQSTQTGSRSSRASHFQSHSSERQRHGSSQVWKH
                     GSYGPAEYDYGHTGYGPSGGSRKSISNSHLSWSTDSTANKQLSRH"
     misc_feature    74..316
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5D862.1);
                     Region: S-100-like. /evidence=ECO:0000250"
     misc_feature    359..898
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5D862.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    806..940
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5D862.1);
                     Region: Filaggrin 1"
     misc_feature    1118..1180
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5D862.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1289..7246
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5D862.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3899..3901
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q2VIS4; propagated from
                     UniProtKB/Swiss-Prot (Q5D862.1); phosphorylation site"
     misc_feature    4352..4354
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q2VIS4; propagated from
                     UniProtKB/Swiss-Prot (Q5D862.1); phosphorylation site"
     misc_feature    4355..4357
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q2VIS4; propagated from
                     UniProtKB/Swiss-Prot (Q5D862.1); phosphorylation site"
     misc_feature    4583..4585
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q2VIS4; propagated from
                     UniProtKB/Swiss-Prot (Q5D862.1); phosphorylation site"
     misc_feature    4586..4588
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q2VIS4; propagated from
                     UniProtKB/Swiss-Prot (Q5D862.1); phosphorylation site"
     misc_feature    4808..4810
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q2VIS4; propagated from
                     UniProtKB/Swiss-Prot (Q5D862.1); phosphorylation site"
     misc_feature    5039..5041
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q2VIS4; propagated from
                     UniProtKB/Swiss-Prot (Q5D862.1); phosphorylation site"
     misc_feature    5042..5044
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q2VIS4; propagated from
                     UniProtKB/Swiss-Prot (Q5D862.1); phosphorylation site"
     misc_feature    5471..5473
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q2VIS4; propagated from
                     UniProtKB/Swiss-Prot (Q5D862.1); phosphorylation site"
     misc_feature    5492..5494
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q2VIS4; propagated from
                     UniProtKB/Swiss-Prot (Q5D862.1); phosphorylation site"
     misc_feature    5720..5722
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q2VIS4; propagated from
                     UniProtKB/Swiss-Prot (Q5D862.1); phosphorylation site"
     misc_feature    5723..5725
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q2VIS4; propagated from
                     UniProtKB/Swiss-Prot (Q5D862.1); phosphorylation site"
     misc_feature    5948..5950
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q2VIS4; propagated from
                     UniProtKB/Swiss-Prot (Q5D862.1); phosphorylation site"
     misc_feature    6173..6175
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q2VIS4; propagated from
                     UniProtKB/Swiss-Prot (Q5D862.1); phosphorylation site"
     mat_peptide     7037..7246
                     /gene="FLG2"
                     /gene_synonym="IFPS; PSS6"
                     /product="filaggrin-2"
                     /note="C-terminus of filaggrin-2"
ORIGIN
        1 accctgcaag ctgcatcagg ctttatccta cttgttcctt tggtgaacca ggttcactta
       61 aacttgcaaa aagatgaccg acctcttgag aagtgttgtc accgtaattg atgttttcta
      121 caaatacacc aagcaagatg gggagtgtgg cacactgagc aagggtgaac taaaggaact
      181 tctggagaaa gagcttcatc cagttctgaa gaacccagat gatccagaca cagtggatgt
      241 catcatgcat atgctggatc gagatcatga cagaagattg gactttactg agtttctttt
      301 gatgatattc aagctgacta tggcctgcaa caaggtcctc agcaaagaat actgcaaagc
      361 ttcagggtca aagaagcata ggcgtggtca ccgacaccaa gaagaagaaa gtgaaacaga
      421 agaggatgaa gaggatacac caggacataa atcaggttac agacattcaa gttggagtga
      481 gggagaggag catggatata gttctgggca ctcaagggga actgtgaaat gtagacatgg
      541 gtccaactcc aggaggctag gaagacaagg taatttatcc agctctggga accaagaggg
      601 atctcagaaa agataccaca ggtccagctg tggtcattca tggagtggtg gcaaagacag
      661 acatggttcc agctctgtag aactgagaga aagaataaac aagtcacaca ttagcccttc
      721 tagggaatct ggggaggagt atgaatctgg atctggatca aacagttggg aaaggaaagg
      781 tcatggtggt ctgtcatgtg gattggagac tagtgggcat gaatcaaact ctactcagtc
      841 aagaattaga gaacaaaagc ttgggtctag ctgttcaggt tcaggagaca gtgggaggcg
      901 aagtcatgca tgtggttata gcaattcaag tgggtgtgga aggccacaaa atgcttcaag
      961 ttcttgtcag tcacatagat ttggagggca aggaaatcaa tttagctata ttcagtcagg
     1021 ctgtcagtca ggaattaagg gaggacaagg ccatggctgt gtctcaggag gtcagccctc
     1081 tggatgtggt caacctgagt ctaacccctg tagtcagtcc tatagtcaga gaggatatgg
     1141 agctagagaa aatggtcaac cacagaactg tggaggacaa tggagaacag gctcaagtca
     1201 gtcctcttgc tgtggacaat atgggtctgg aggtagccag tcttgtagta atggtcaaca
     1261 tgaatatggt tcctgtggcc gcttttcaaa ctcttctagt tcaaatgaat tttccaaatg
     1321 tgatcaatat gggtctggtt caagtcagtc tactagcttt gaacaacatg gaacaggctt
     1381 gagtcagtcc tctgggttcg aacaacatgt atgtggctca ggtcaaactt gtggccagca
     1441 tgagtctaca tcaagtcaat ccttgggcta tgaccagcat gggtctagct caggtaagac
     1501 atctggcttt ggacaacatg ggtctggctc aggtcagtcc tctggctttg gacaatgtgg
     1561 gtcaggctca ggtcagtcct ctggctttgg acagcatggg tctgtctcag gacaatcctc
     1621 tggttttgga cagcatgggt ctgtctcagg acaatcctct ggttttggac aacatgagtc
     1681 tagatcacgt cagtctagct atggccaaca tggttctggc tcaagtcaat catctggcta
     1741 tggccaatat gggtctagag agacatctgg ctttggacaa catgggttgg gctcaggtca
     1801 atccactggc tttggccaat atggatcggg ctcaggtcag tcctctggct ttggacaaca
     1861 tgggtctggc tcaggacaat cctctggctt tggacaacat gagtctagat caggtcagtc
     1921 tagttatggc caacacagtt ctggctcaag tcagtcatct ggctatggcc aacatgggtc
     1981 tagacagaca tctggctttg gacaacatgg gtcaggctca agtcaatcca ctggctttgg
     2041 ccaatatgga tcaggctcag gtcagtcctc tggctttgga caacatgttt ctggctcagg
     2101 acaatcctct ggttttggac aacatgagtc tagatcaggt cattctagct atggccaaca
     2161 tggttttggc tcaagtcaat catctggcta tggtcaacat gggtcaagtt caggacagac
     2221 atctggattt ggacaacacg agttaagctc aggtcagtct tccagctttg gccaacatgg
     2281 atcaggctca ggtcagtcct ctggctttgg acaacatggg tctggctcag gacaatcctc
     2341 tggctttgga caacatgagt ctagatcagg tcagtctagc tatggccaac acagttctgg
     2401 ctcaagtcag tcatctggct atggccaaca tgggtctaga cagacatctg gctttggaca
     2461 acatgggtca ggctcaagtc aatccactgg ctttggccaa tatggatcag gctcaggtca
     2521 gtccgctggc tttggacaac atgggtctgg ctcaggacaa tcctctggct ttggacagca
     2581 tgagtctaga tcacatcagt ccagctatgg ccaacatggt tctggctcaa gtcaatcatc
     2641 tggctatggt caacatgggt caagttcggg acagacatct ggctttggac aacacaggtc
     2701 aagctcaggt caatactctg gctttggaca acatggatca ggctcaggtc agtccagtgg
     2761 ctttggacaa catgggactg gctcaggaca atactctggt tttggacaac atgagtctag
     2821 atcacatcag tctagctatg gccaacatgg ttctggctca agtcagtcat ctggctatgg
     2881 tcaacatggg tcaagttcag gacagacttt tggatttgga caacacaggt caggctcagg
     2941 tcaatcctct ggctttggcc aacatggatc aggctcaggt cagtcctctg gctttggaca
     3001 acatgagtca ggctcaggaa aatcctctgg ctttggacag catgagtcta gatcaagtca
     3061 gtctaattat ggccaacatg gttctggctc aagtcagtca tctggctatg gtcaacatgg
     3121 gtctagttca ggacagacaa ctggctttgg acaacacagg tcaagctcag gccaatactc
     3181 aggctttgga caacatggat caggctcaga tcagtcctct ggctttggac aacatgggac
     3241 tggttcagga caatcctctg gttttggaca atatgagtct agatcacgtc agtctagcta
     3301 tggccaacat ggttctggct caagtcaatc atctggctat ggtcaacatg ggtcaaattc
     3361 aggacagaca tctggatttg gacaacacag gccaggctca ggtcagtcct ctggctttgg
     3421 ccaatatgga tcgggctcag gtcagtcttc tggctttgga caacatgggt caggcacagg
     3481 taaatcctct ggctttgcac agcatgagta cagatcaggt cagtctagct atggccaaca
     3541 tggtactggc tccagtcaat catctggctg tggccaacat gagtctggct caggtccaac
     3601 cacaagtttt ggacagcatg tgtctggctc agacaatttc tctagttctg gacaacatat
     3661 atctgactca ggtcagtcca ctggatttgg ccaatatggt tcaggctcag gtcaatcaac
     3721 tggcttgggc cagggtgaat ctcaacaagt agagtcagga tccacagttc atgggagaca
     3781 ggaaactact catggtcaga caataaatac cactagacat agccagtctg gtcaaggaca
     3841 atccacacag acagggtcca gggtaactag aagacgaaga tctagccaaa gtgagaacag
     3901 tgacagtgaa gtgcactcaa aggtctcaca cagacattca gaacacattc acacacaagc
     3961 tggatctcac tacccaaagt caggatccac agttcgcaga agacaaggaa ctactcatgg
     4021 acagagagga gataccacta gacatggcca ttctggtcat ggacagtcta cacagacagg
     4081 ttccagaaca tctggaagac agagatttag ccacagtgat gccactgaca gtgaagtgca
     4141 ctcaggggtc tcacatagac cacactcaca agaacaaact cacagccaag ctggatctca
     4201 acatggagag tcagaatcca cagttcatga gagacatgaa actacttatg gacagacagg
     4261 agaggccact ggacatggcc actctggtca tggacagtcc acacagagag ggtccaggac
     4321 aactggaaga aggggatctg gccatagtga gtccagtgac agtgaagtgc actcaggggg
     4381 ctcacacaga ccacaatcac aagaacaaac tcatggccaa gccggatctc aacatggaga
     4441 gtcaggatcc acagttcatg ggagacacgg aactactcat ggacagacag gagataccac
     4501 tagacatgcc cactatcatc atggaaaatc cacacagaga gggtccagta caactggaag
     4561 aaggggatct ggccacagtg agtccagtga cagtgaagtg cactcagggg gctcgcacac
     4621 acattcagga cacactcacg gccaaagtgg atctcaacat ggagagtcag aatccataat
     4681 tcatgacaga cacagaatta ctcatggaca gacaggagat accactagac attcctactc
     4741 tggtcatgaa caaaccacac agacagggtc caggacaact ggaagacaga gaactagcca
     4801 cagtgagtcc actgacagtg aagtgcactc agggggctca cacagaccac actcacgaga
     4861 acacacttac ggccaagccg gatctcaaca tgaagagcca gaattcacag ttcatgagag
     4921 acacggaact actcatggac agataggaga taccactgga cattcccact ctggtcatgg
     4981 acagtccaca cagagagggt ccaggacaac tggaagacag agatctagcc acagtgagtc
     5041 cagtgacagt gaagtgcact caggggtctc acacacacat acaggacaca ctcatggtca
     5101 agctggatct caacatggac agtcagaatc catagttcct gagagacatg gaactactca
     5161 tggacagaca ggagatacca ctagacatgc ccactatcat catggattaa ccacacagac
     5221 agggtccagg actactggaa gaaggggatc tggccacagt gagtacagtg acagtgaagg
     5281 gtactcagga gtctcacata cacattcagg acacactcat ggccaagcca gatctcaaca
     5341 tggagagtca gaatccatag ttcatgagag acatggaact atacatggac agacaggcga
     5401 taccaccaga catgcccact ctggtcatgg acagtccaca cagacagggt ccaggaccac
     5461 tggaagaagg tcatctggcc acagtgagta cagtgacagt gaagggcact cagggttctc
     5521 acaaagacca cactcacgag gacacactca cggccaggct ggatctcaac atggagagtc
     5581 agaatccata gttgacgaga gacatggaac tactcatgga cagacaggag ataccagtgg
     5641 acattctcaa tctggtcatg gacagtccac acagtcagga tccagtacaa ctggaagaag
     5701 gagatctggc cacagtgagt ccagtgacag tgaagtgcac tcagggggct cacatacaca
     5761 ttcaggacac acacacagcc aagccaggtc tcaacatgga gagtcagaat ccacagttca
     5821 caagagacac caaactactc atggacagac aggagatacc actgaacatg gccaccctag
     5881 tcatggacaa accatacaga cagggtccag gacaactgga agaaggggat ctggccacag
     5941 tgagtacagt gacagtgaag ggccctcagg ggtctcacac acacattcag gacacactca
     6001 cggtcaagct ggatctcact atccagagtc aggatcctca gttcatgaga gacacggaac
     6061 tactcatgga caaacagcag ataccactag acatggccac tctggtcatg gacagtccac
     6121 acagagaggg tccaggacaa ctggaagaag ggcatctggc cacagtgagt acagtgacag
     6181 tgaagggcac tcaggggtct cacacacaca ttcaggacac gctcatggcc aagccggatc
     6241 tcaacatgga gagtcaggat cctcagttca tgagagacac ggaactactc atggacagac
     6301 aggagatacc actagacatg ctcactctgg tcatggacag tccacacaga gagggtcaag
     6361 gacagctgga agaaggggat ctggccacag tgagtccagt gacagtgaag tgcactcagg
     6421 ggtctcacac acacattcag gacacactta tggccaagcc agatctcaac atggagagtc
     6481 aggatctgcc attcacggga gacagggaac tatacatgga cagacaggag ataccactag
     6541 acatggccag tctggtcatg gacagtccac acagacaggt tccaggacaa ctggaagaca
     6601 aagatctagt cacagtgagt ccagtgatag tgaagtgcac tcagaggcct cacccacaca
     6661 ttcaggacac actcacagcc aagccggatc tcgacatgga cagtcaggat cctcaggtca
     6721 tgggagacag ggaactactc atggacagac aggagatacc actagacatg cccactatgg
     6781 ttatggacaa tccacacaga gagggtccag gacaactgga agaaggggat ctggccacag
     6841 tgagtccagt gacagtgaag tgcactcatg gggctcacac acacattcag gacacattca
     6901 gggccaagct ggatctcaac aaagacagcc aggatccaca gttcatggga gactggaaac
     6961 tactcatgga cagacaggag ataccactag acatggccat tctggttatg gacaatccac
     7021 acagacaggt tccagatcta gtagagcaag tcattttcag tcacatagta gtgaaaggca
     7081 aaggcatgga tcaagtcagg tttggaaaca tggcagctat ggacctgcag aatatgacta
     7141 tgggcacact gggtatgggc cttctggtgg cagcagaaaa agcatcagta attctcacct
     7201 ttcatggtca acagacagca ctgcaaacaa gcaactgtct agacattgac agttattttc
     7261 tagttctgac cttatagtat ccaaagcaac taaaagaaca ggaagacaca gtttaaatca
     7321 tgaacagtca atggtaagtt atgaacattc agttgattct cagtatcagt ctcgacctat
     7381 tattataaga agtcaggaat ctagtcatgg acattctata gtaactcata aacagtcaaa
     7441 caacacctat gttcaacctg gatataacac agccagaagg gagggatgta cacatagcca
     7501 gtcaaatgac caccttggat ttggccatgg acaatccata tcagttcatg gccattcaaa
     7561 atctagttca atcagaaaac aggaatccca tactgataac aaaaagcatt cagaagattg
     7621 ggagaaagac actcatgagc aattaggatc taggcatggg aagttagagt tcaatacaat
     7681 aggtatacat ggatctagcc agcaacattt cggagataca acttttcatg ggcaggtaag
     7741 atccagcaca ggttttgcca gataggtatt aagtcatggg ccatcaagag atgcctaggg
     7801 tcagtctgga ttcagtacca atgaaagaca agtatacagc catggccaat caaatgatag
     7861 ttatgagtag tcaaatgaca gcaaaagtca aagatacatt ttcagtcact ttcttgacag
     7921 ccaagaccct gcaggaattg aagagtatag gtatagatat tcatcaagca gtgcaaccat
     7981 atgcagtggg ggagacaaag gcaagagtca gagtcaagtc tgtcaggagg tatcagaata
     8041 tacggtgagg atgtgggcaa aaaacaaaga ggctctgagg ccagcggtta ccatacaaag
     8101 gaaagaacag gctctggttc cttctgctta gatagcaaca ccccactcta tgaatatgtc
     8161 caagaacaaa ggagttatta ctttgaataa gaagccaaca taaactagcc caagataaga
     8221 actaacccag agaagaaatg agacacatac atgaaattaa ggtatttaac atgatctcct
     8281 cttttggtag taagggtata tgtctgttct ttcattttaa ctatagttct gtactatatt
     8341 acttttgttt ggtgccaggt gtttttgtaa ggctccacat tcattgaact ccttggttag
     8401 aaaatagtga atgaggccgg gcgcggtggc tcacgcctgt aatcccagca ctttgggagg
     8461 ccaagatggg tggatcacga agtcaggagt tcgagaccag cctggccaac atagtgaaat
     8521 cccgtctcta ctaaaaatac aaaaattagc tgggtgcagt agcgggcacc tgtaatccta
     8581 gctactcagg aggctgaggc aggagaattg gttgaacccg ggaggcagag gttgcagtga
     8641 gccgagatcg caccactgca ctccagcctg ggtgactgag caagactcca ccttgaaaaa
     8701 aagaaagaaa gaaaatagtg aatggaagaa aaagataaac accatttggg gctatattca
     8761 gaactatata ataaagagag atttgtgtgg ttgggaataa aattaggttt taaaaaaatt
     8821 tccgaatttc aaaatttgga ttttccagat tttgttttaa ttaattattg acaaacctat
     8881 ccaaggagct aaatgacgtg gtttaggagc caaaacgtct ctagaaacat tataacacat
     8941 cccatcctga acaaagaatg ttgtcatagt ttcccacatg aatattcaga atatttgcat
     9001 ctttttgtgt cactactgga attctgtaca attatattta aatttattgt catggccttc
     9061 tggatatagg atccagaaaa ttgtacttca taaaaattgg caataaacat ttcatcaagt
     9121 tata
//
LOCUS       NM_001014436            9869 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens drebrin like (DBNL), transcript variant 2, mRNA.
ACCESSION   NM_001014436
VERSION     NM_001014436.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9869)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 9869)
  AUTHORS   Ghosh A, Enderlein J and Butkevich E.
  TITLE     Dimerization of Human Drebrin-like Protein Governs Its Biological
            Activity
  JOURNAL   Biochemistry 59 (16), 1553-1558 (2020)
   PUBMED   32282191
  REMARK    GeneRIF: Dimerization of Human Drebrin-like Protein Governs Its
            Biological Activity.
REFERENCE   3  (bases 1 to 9869)
  AUTHORS   Boateng LR, Bennin D, De Oliveira S and Huttenlocher A.
  TITLE     Mammalian Actin-binding Protein-1/Hip-55 Interacts with FHL2 and
            Negatively Regulates Cell Invasion
  JOURNAL   J Biol Chem 291 (27), 13987-13998 (2016)
   PUBMED   27129278
  REMARK    GeneRIF: findings show that mAbp1 and FHL2 are novel binding
            partners that differentially regulate Rho GTPase signaling and MTLn3
            breast cancer cell invasion
REFERENCE   4  (bases 1 to 9869)
  AUTHORS   He K, Xing R, Yan X, Tian A, Zhang M, Yuan J, Lv Z, Fang X, Li Z and
            Zhang Y.
  TITLE     Mammalian actin-binding protein 1/HIP-55 is essential for the
            scission of clathrin-coated pits by regulating dynamin-actin
            interaction
  JOURNAL   FASEB J 29 (6), 2495-2503 (2015)
   PUBMED   25690657
  REMARK    GeneRIF: Data suggest that by binding to both clathrin and F-actin,
            mammalian actin-binding protein 1 (mAbp1; HIP-55 or SH3P7) is
            specifically recruited at a late stage of clathrin-coated pits
            (CCPs) formation, which subsequently recruits dynamin to CCPs.
REFERENCE   5  (bases 1 to 9869)
  AUTHORS   Coleman KM, Gudjonsson JE and Stecher M.
  TITLE     Open-Label Trial of MABp1, a True Human Monoclonal Antibody
            Targeting Interleukin 1alpha, for the Treatment of Psoriasis
  JOURNAL   JAMA Dermatol 151 (5), 555-556 (2015)
   PUBMED   25715176
  REMARK    GeneRIF: The results presented here indicate that targeting
            IL-1alpha with subcutaneous MABp1 adminisration has a strong
            potential therapeutic value in treating psoriasis and may provide a
            novel future treatment of this often devastating disease.
REFERENCE   6  (bases 1 to 9869)
  AUTHORS   Yamazaki H, Takahashi H, Aoki T and Shirao T.
  TITLE     Molecular cloning and dendritic localization of rat SH3P7
  JOURNAL   Eur J Neurosci 14 (6), 998-1008 (2001)
   PUBMED   11595038
REFERENCE   7  (bases 1 to 9869)
  AUTHORS   Ensenat D, Yao Z, Wang XS, Kori R, Zhou G, Lee SC and Tan TH.
  TITLE     A novel src homology 3 domain-containing adaptor protein, HIP-55,
            that interacts with hematopoietic progenitor kinase 1
  JOURNAL   J Biol Chem 274 (48), 33945-33950 (1999)
   PUBMED   10567356
  REMARK    Erratum:[J Biol Chem 2000 May 5;275(18):14004]
REFERENCE   8  (bases 1 to 9869)
  AUTHORS   Lee CG, Morse HC 3rd, Kay BK and Kozak CA.
  TITLE     Genetic mapping of eight SH3 domain genes on seven mouse chromosomes
  JOURNAL   Mamm Genome 10 (4), 402-404 (1999)
   PUBMED   10087302
REFERENCE   9  (bases 1 to 9869)
  AUTHORS   Larbolette O, Wollscheid B, Schweikert J, Nielsen PJ and Wienands J.
  TITLE     SH3P7 is a cytoskeleton adapter protein and is coupled to signal
            transduction from lymphocyte antigen receptors
  JOURNAL   Mol Cell Biol 19 (2), 1539-1546 (1999)
   PUBMED   9891087
REFERENCE   10  (bases 1 to 9869)
  AUTHORS   Gipson IK, Spurr-Michaud S, Moccia R, Zhan Q, Toribara N, Ho SB,
            Gargiulo AR and Hill JA 3rd.
  TITLE     MUC4 and MUC5B transcripts are the prevalent mucin messenger
            ribonucleic acids of the human endocervix
  JOURNAL   Biol Reprod 60 (1), 58-64 (1999)
   PUBMED   9858486
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.2846193.1,
            SRR1803612.102836.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000448521.6/ ENSP00000411701.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF077353.1, BC011677.2 and AC017116.7.
            On Jun 2, 2019 this sequence version replaced NM_001014436.2.
            Transcript Variant: This variant (2) uses two alternate in-frame
            splice sites compared to variant 3. The resulting isoform (b) has
            the same N- and C-termini but is shorter compared to isoform c.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..9869
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p13"
     gene            1..9869
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="drebrin like"
                     /db_xref="GeneID:28988"
                     /db_xref="HGNC:HGNC:2696"
                     /db_xref="MIM:610106"
     CDS             37..1329
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="isoform b is encoded by transcript variant 2; src
                     homology 3 domain-containing protein HIP-55; drebrin-like
                     protein; drebrin-F; cervical SH3P7; SH3 domain-containing
                     protein 7; cervical mucin-associated protein;
                     HPK1-interacting protein of 55 kDa; actin-binding protein
                     1"
                     /codon_start=1
                     /product="drebrin-like protein isoform b"
                     /protein_id="NP_001014436.1"
                     /db_xref="CCDS:CCDS34623.1"
                     /db_xref="GeneID:28988"
                     /db_xref="HGNC:HGNC:2696"
                     /db_xref="MIM:610106"
                     /translation="MAANLSRNGPALQEAYVRVVTEKSPTDWALFTYEGNSNDIRVAGT
                     GEGGLEEMVEELNSGKVMYAFCRVKDPNSGLPKFVLINWTGEGVNDVRKGACASHVSTM
                     ASFLKGAHVTINARAEEDVEPECIMEKVAKASGANYSFHKESGRFQDVGPQAPVGSVYQ
                     KTNAVSEIKRVGKDSFWAKAEKEEENRRLEEKRRAEEAQRQLEQERRERELREAARREQ
                     RYQEQGGEASPQRTWEQQQEVVSRNRNEQESAVHPREIFKQKERAMSTTSISSPQPGKL
                     RSPFLQKQLTQPETHFGREPAAAISRPRADLPAEEPAPSTPPCLVQAEEEAVYEEPPEQ
                     ETFYEQPPLVQQQGAGSEHIDHHIQGQGLSGQGLCARALYDYQAADDTEISFDPENLIT
                     GIEVIDEGWWRGYGPDGHFGMFPANYVELIE"
     misc_feature    112..114
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q62418; propagated from
                     UniProtKB/Swiss-Prot (Q9UJU6.1); phosphorylation site"
     misc_feature    445..447
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9UJU6.1); phosphorylation site"
     misc_feature    514..516
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UJU6.1); phosphorylation site"
     misc_feature    562..564
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9UJU6.1); acetylation site"
     misc_feature    583..585
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9UJU6.1); phosphorylation site"
     misc_feature    691..885
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJU6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    730..732
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18088087, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     Phosphoserine. /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9UJU6.1); phosphorylation site"
     misc_feature    841..843
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9UJU6.1);
                     phosphorylation site"
     misc_feature    850..852
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UJU6.1); phosphorylation site"
     misc_feature    859..861
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9UJU6.1); phosphorylation site"
     misc_feature    883..885
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:15144186,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9UJU6.1);
                     phosphorylation site"
     misc_feature    898..900
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9UJU6.1); acetylation site"
     misc_feature    907..909
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UJU6.1); phosphorylation site"
     misc_feature    1036..1038
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q62418; propagated from
                     UniProtKB/Swiss-Prot (Q9UJU6.1); phosphorylation site"
     misc_feature    1066..1068
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q62418; propagated from
                     UniProtKB/Swiss-Prot (Q9UJU6.1); phosphorylation site"
     misc_feature    1117..1122
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="Cleavage, by caspase-3; propagated from
                     UniProtKB/Swiss-Prot (Q9UJU6.1); cleavage site"
     polyA_site      2072
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="major polyA site"
     regulatory      2105..2110
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="hexamer: AACAAA"
     polyA_site      2129
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="major polyA site"
     regulatory      9644..9649
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
                     /note="hexamer: CATAAA"
     polyA_site      9666
                     /gene="DBNL"
                     /gene_synonym="ABP1; HIP-55; HIP55; SH3P7"
ORIGIN
        1 agctacagca gcggcgcgga gactgcgggg cgggccatgg cggcgaacct gagccggaac
       61 gggccagcgc tgcaagaggc ctacgtgcgg gtggtcaccg agaagtcccc gaccgactgg
      121 gctctcttta cctatgaagg caacagcaat gacatccgcg tggctggcac aggggagggt
      181 ggcctggagg agatggtgga ggagctcaac agcgggaagg tgatgtacgc cttctgcaga
      241 gtgaaggacc ccaactctgg actgcccaaa tttgtcctca tcaactggac aggcgagggc
      301 gtgaacgatg tgcggaaggg agcctgtgcc agccacgtca gcaccatggc cagcttcctg
      361 aagggggccc atgtgaccat caacgcacgg gccgaggagg atgtggagcc tgagtgcatc
      421 atggagaagg tggccaaggc ttcaggtgcc aactacagct ttcacaagga gagtggccgc
      481 ttccaggacg tgggacccca ggccccagtg ggctctgtgt accagaagac caatgccgtg
      541 tctgagatta aaagggttgg taaagacagc ttctgggcca aagcagagaa ggaggaggag
      601 aaccgtcggc tggaggaaaa gcggcgggcc gaggaggcac agcggcagct ggagcaggag
      661 cgccgggagc gtgagctgcg tgaggctgca cgccgggagc agcgctatca ggagcagggt
      721 ggcgaggcca gcccccagag gacgtgggag cagcagcaag aagtggtttc aaggaaccga
      781 aatgagcagg agtctgccgt gcacccgagg gagattttca agcagaagga gagggccatg
      841 tccaccacct ccatctccag tcctcagcct ggcaagctga ggagcccctt cctgcagaag
      901 cagctcaccc aaccagagac ccactttggc agagagccag ctgctgccat ctcaaggccc
      961 agggcagatc tccctgctga ggagccggcg cccagcactc ctccatgtct ggtgcaggca
     1021 gaagaggagg ctgtgtatga ggaacctcca gagcaggaga ccttctacga gcagccccca
     1081 ctggtgcagc agcaaggtgc tggctctgag cacattgacc accacattca gggccagggg
     1141 ctcagtgggc aagggctctg tgcccgtgcc ctgtacgact accaggcagc cgacgacaca
     1201 gagatctcct ttgaccccga gaacctcatc acgggcatcg aggtgatcga cgaaggctgg
     1261 tggcgtggct atgggccgga tggccatttt ggcatgttcc ctgccaacta cgtggagctc
     1321 attgagtgag gctgagggca catcttgccc ttcccctctc agacatggct tccttattgc
     1381 tggaagagga ggcctgggag ttgacattca gcactcttcc aggaatagga cccccagtga
     1441 ggatgaggcc tcagggctcc ctccggcttg gcagactcag cctgtcaccc caaatgcagc
     1501 aatggcctgg tgattcccac acatccttcc tgcatccccc gaccctccca gacagcttgg
     1561 ctcttgcccc tgacaggata ctgagccaag ccctgcctgt ggccaagccc tgagtggcca
     1621 ctgccaagct gcggggaagg gtcctgagca ggggcatctg ggaggctctg gctgccttct
     1681 gcatttattt gccttttttc tttttctctt gcttctaagg ggtggtggcc accactgttt
     1741 agaatgaccc ttgggaacag tgaacgtaga gaattgtttt tagcagagtt tgtgaccaaa
     1801 gtcagagtgg atcatggtgg tttggcagca gggaatttgt cttgttggag cctgctctgt
     1861 gctccccact ccatttctct gtccctctgc ctgggctatg ggaagtgggg atgcagatgg
     1921 ccaagctccc accctgggta ttcaaaaacg gcagacacaa catgttcctc cacgcggctc
     1981 actcgatgcc tgcaggcccc agtgtgtgcc tcaactgatt ctgacttcag gaaaagtaac
     2041 acagagtggc cttggcctgt tgtcttcccc tattttctgt cccagctcat ccgtgtctct
     2101 gaagaacaaa tatgcttttg gaccacgaat tcccagtttg gtctacacag gctcgcagct
     2161 ctcacctgtc ctgctgtagc ctgaatgctc ccatgtggga atagcacccc accacctgcc
     2221 cagtgtctgc ctctgctccg tgtctggggt gagcaccctc accctgagac tgtggctgat
     2281 gatgatcagc caccaggaag aggctaaatg ttaagatggg actgaagttg gagccttcct
     2341 gcgttccagt tcctctagga gaggccaagg gctgccctgc tcccagcttc agggagcctc
     2401 tgcctacatg ggatggccca ctgtgtggcg tcaggtacct ggcacccact gagcatccgg
     2461 ggaattaggt ccctcctgtg ccccagagct gctaggcaga ctgctaggcg gttgactcaa
     2521 ggtgttacct gctagtgcct ggggtgaagg ctgcatggag cccaaccttg ctcctggcct
     2581 tcctgtgctc aggcctctcc ccttttcgcc agggcttcct ggtgcctctc ccatgaagag
     2641 ggaacttccc ctccactccc atggaagacc caggtttggg ctgttgccag ctttgaggcc
     2701 ccctgtgggc ttgcctgtcc caacccaaga ggcagggctc aaagtgccac ccgggggttg
     2761 caaggacagc agaggaccac ctgccctctg caggaagctg tccaggaagc cgtgtcctgg
     2821 gctgtggtcc ttgctcccca tggggagagc tgggtcactt ggcctcttct aactggcccc
     2881 aagcacgcca attctggagc atggttacta agtggctctg aagcttcagg gtcaccacag
     2941 gcttgtcctg actgcaaact catggagtgg ttgcagccct ggctcagtgt cctgatgact
     3001 aggtgtgggt actaggctcc tgcccctggt gacacacgta tggagtgggg gagggtgggt
     3061 ggctgcaccc ctggttctgg agtccccaca gctgatggcg gtgtgagcct ggcatgcacg
     3121 gctgcgctgg actccaggct gttgggggag gtgcctttat tgcccaagcc cacccctcac
     3181 ttggccttgc cctgggcagc cacagcctcc atggccttcc gcaccgtttc ctcatcaccc
     3241 aggaactgca tgggcttggt gggcttcagc tccttgttca gctcatacac aatggggatc
     3301 cccgtgggca ggttcagctc catgatcgcc tggtctgaca tccctatgcc ggaaggaata
     3361 ggtgtcctta gcccctctgt ccccagcctg tttacacagc agacactatg tgacctttat
     3421 ggtccacaga gccagttccc ctggcaccaa ttccttccca gccctgagaa cgaggccaca
     3481 gaaatgttgc caaaggtcaa ggagtaactg agttagacca agcagcctac agaaatagcc
     3541 cagtggtgaa aaaaatgggg acttcagccc cacccaagtg gctgtgatct gtggtggtgc
     3601 tgtccatagt tccctcagcc cagtgtgact ccagccagac tgaagttgag ggtcaggaag
     3661 ggacactcac cctttgtttt ttttttttct tttctttttc tttttctttt ttttgagatg
     3721 gagttttact cctcttgccc aggctggagt gcagtggcac gatcttggct cactgcaacc
     3781 tccatctcct gggttgaagt gattctgcct cagcctccca agtagctggg attacaggtg
     3841 agcgccacca cacccggcta attttgtatt tttagtagaa acgggtttta ccatgttggt
     3901 caggctggtc tcaaactcct gacctcaggt gatctgcctg cctcagcctc ccaaagtgct
     3961 gggattacag gagtgagcca ccgtgcccag caccctttgg tttctaaagt gctctaaatt
     4021 ctagacatcc tgaacagagg agcaagtgcg gaatggagct ggaggaggga cagggaggcc
     4081 gagcctggtc gaaacctgac cctgcctgcc tcctgcagcc cctgagctgg gaatagcagc
     4141 tcgacctttg atgttcgcgc cactccaccc ctgctccgtg caggagggtt taagaaaatg
     4201 ttctctgggg agtcagagtg aaatccctca tattcaccac caaaagtgcg tcccctttcc
     4261 ccaaaccagg ctgtgggagg gtcatggggc tgcatgaagt ctccggaagg gagaggaggc
     4321 aggtggtcct tccctctgcc tggccccagt gccaggtgcc aggtgtccgt gtttggagcg
     4381 ggcaggcttg gggctggctg ggtctccggg gcctgccggt ctgggtgctc tggccaactg
     4441 cccaacggcc ctaggagcag gaggtctggg gcacaccctt ctagcctttc caggactcaa
     4501 caagctttaa ggtcattcag atgctaattt agactgccct tgtgtcagaa tactaaggtg
     4561 ggaggcggag cggaggtgcc agtcactctg ggcgaggcct tactgcgccc atgcatcccg
     4621 ggcccatttg tcagcccttg ctcttcagtg ggagcccagc tgcaagccca gagtctggcc
     4681 actccatagt cctgcacccc tcttttgatt ggtctttcct ttgcccagag aggggctcca
     4741 gagggagata ggtggtgaag ctcatgcagg gattctgagg acctgatggg ggagggccct
     4801 gcgaggggtc caagcctaca tcaagaggaa ttcagtacca gggggagctc cccaccaccc
     4861 cggaaaaggg agaggcccag agatggaggt ggcttgtcca gggccccaca gtaagttggg
     4921 atttggagcc agatgctcta agcccagccc ttccgtttcc tagctgggtg tcccttggca
     4981 gatgccacct ttggagcctg ccccacctcg ggacacagcg agcttcgagt gcagtcagcc
     5041 cctgtggagt gtgtcccagt tacacagaaa tggggaaaat ttcacaaaac taaaaaatgg
     5101 cttctcagcc ctcctttttc agtgaatgat gtggagcccc acgcctagaa agcctggtcc
     5161 atgggcgaga gactttgctg agatgagaag ccagctgggg ctgctgccca cccaccctgc
     5221 ccaggctcct gaaggtggcc tcaccttcca ggtgcttgac aatgccccgc aggctgttcc
     5281 cgtgggctgc aatgagcact cgcttgccgg ccttgatctg gggaacaatc tcctcgttcc
     5341 agaagggcag ggcccgggca atggtgtcct tgaggctctc gcaggtgggg agttccccgg
     5401 gcttcaggcc tgcgtaccga cgctcctggg ggacacaggc acgctgcttt ccctcccaag
     5461 ccagtgggcc cccacccgac tccccactct gcagcttccc agaggccttc ccagcaaagg
     5521 cagcccacct tgctaatgga gttgtagtag gggtgcttct cgtccatcgg gggcggcggg
     5581 atgtcgaagg agcgcctcca gatcttcacc tgctcctccc cgtgcttggc ggccgtttct
     5641 gccttgttga ggcctgtgag gcccccgtaa tgccgctcat tgaggcgcca agtgcgcacc
     5701 acaggcagcc acatctggtc cgtgccgtcc aggatggccc agagggtgcg gatggcccgc
     5761 ttcagcactg acgtgtagca gatgtcaaac tccatcttgg catccttgat ggccttggct
     5821 ccccgcttgg cctcctcggt ccccttttca ctcagctctg catcgaacca gccacagaaa
     5881 cggttctcct ggttccatgt gctctcgccg tgccggacca tcacgaggcg gtgagtggcc
     5941 atggtggcag cagggaccac agaggactct ggacggggac ggctgcttcc caacactccc
     6001 agctttataa tagtgtcttc ccagccccca cccaccccag ccaactgcca atcagcattc
     6061 caggcggtgg caggtgacca gtagctgagc tgctgggggc tgggggccag gggagtgtgc
     6121 aggccaagag gctgtgctta aaatagcccc acgcatccac cagctcctgg cctgggttca
     6181 ggtggcatgt ctataaccag ctggcaccca gagcccagac tgagtggggc tgctggtcag
     6241 ggatgggcgt gaagggcaga agtctgggcc aggggagatg gggatagcag ggacagaggg
     6301 gctctccagg gcaacgctca gtggcctatc agccattctc tgctcagaca gaggcacaaa
     6361 caaaatccca acccctttct cctgtgattg gcagccaggc taggaggcgg ccctcagcag
     6421 gcagaggagg agagccagag gagctggtgc agaccacagc tttgtggaga ggagtctggc
     6481 cttgtggaag gtaccaggca gcagcagcag aatgggcaag ggctggggct gagccgggtt
     6541 tccaggacaa agggggaaag ggcccctgtc tttcctccgg ggtccctttg tcaaggtctc
     6601 atccatacat gccccatgct cccaccctat ctgccctcac ccaagccacg ctcactctcc
     6661 tagccgaaac caccttgaaa aagagaaatc caagggggtt tgggggcagg actgaggact
     6721 gtcagaagtc ttgattgtta ggtaaatgct cagcttagca ggaacccaca acgtaggctg
     6781 aagggtggca cggagttgag tctaggacca agacttctgc attcaggttt gggggatgag
     6841 agccaccaag gcagggaaga gactatgagc aataaagtca caattggggc cctaatgaag
     6901 gggccatggc cagacccttg ggcatgggcc ccatccaggg cctcccattt cctcccaccc
     6961 cagtgaccac actgtcacct gcgacacttc tgataacagg agcgggtagg tgagaggcca
     7021 gcagagggac caccactctg agacttggat ctgagtgtgc aagaaaccct cgacaggcct
     7081 ccctccatcc ctgctggcct acctggggag gggctcctgg cttggggcct gtgaagctaa
     7141 ggctctgtac ccaaaggttg gcagacaagt cccagtgggc aaagtcctgt cggctgccag
     7201 gacccccaag gctggcaggt ggaacccatc cctcctagca gtgccatgcg caggtctcac
     7261 tgttccacac tgatcctgat tgaagccaca tctcctcatc tgcttttgtc cctttgacca
     7321 agagttgatt cactagccca actaaacatg actgaggacc aggctctggc agtcccacag
     7381 gggccagaca tgaagcccat atttcagtgg aggagggatc gtaccagcag ctaaacatgc
     7441 ctaccgtaga tagcaccaga tgctaggaag gaaggaccat aatgtactgg gagagatggg
     7501 aaaggagagg ccggggacag ccctgaggtg acatgtgagt ggaaagagcg gagtgcaaag
     7561 gcctcagcta tgatgagtcc tacagggaga gcaattcagg tagaggggtt ggcaaagacc
     7621 caagccctac agaaagcaaa caagctgggg cagcgaccat caggggcaca tggcagagag
     7681 gtgggctttg tgtcccaaca cagtgggaat cactggagac tttgaagcat ggtcatattt
     7741 tcaagtcact tgcagctgtg taggagtgga agtagaagct gagtaccctg caggtctcgg
     7801 cagctttgat gagaacaagg ccgcttagcc agggctgggt gcagaagcag tggcaaggat
     7861 cccccagacc tgggagacct cactgccaac caagcaggag gtgtcaaaaa ggaaagggga
     7921 gcccaaagaa gggctggact tcggggaagc aagcccctgc ttctgaccct tggctccggc
     7981 ttgactttcc tttgattcat ttgacaagta gttgctggcc tctgcagtgt gccagagctt
     8041 tcttggaggg gtacaggggt aggaaaacca aaagccaccc tcagggcctc catccaggaa
     8101 ggcatagcat ggtgggcggc gaggaaggct gctgagtcaa caaggtggtc ccaggaaggt
     8161 ggagggagca tcttcccatg tctctcccac tgacagccac caatcctgga cagatgcagg
     8221 agcagctgtc agtagacaga taagaaaagg agatcagatt caaagttccg cagagaagtg
     8281 gtgaggtaac aagtattgcc tagcctggac acacaggcgg cttgaaacct caagtgcacc
     8341 aacagaaaga gctccaggaa gaatcagagg agtgggatgt gaagcccctc gaagtcagtg
     8401 agttggggga atccctccaa tttttctttt cttctctacc ccagctcctg ggcagtaaca
     8461 tggaggtggc agtggtggca cagtgacggt agtgtgagct gggtacgcac ttgaaacctg
     8521 agagggtaac gctaccctct gtctagagga gccatggccc caaaagcatg gggcaaccac
     8581 cttctgcagc tcctttctgc ccccctgcgc tgggccctgg atgcagtttc agggagtatg
     8641 cagcagggta ggtagggaaa gagccccaga tttgtggctg gaggtcttgg tagggatgtt
     8701 gcagggagct gttgtgtttc agggagagta cagagaaggg agagatgaag tgagtgatcc
     8761 gataaagtga tatgtgaagt cattggcttg ctgccaagct gcgcacaggg ctgaccctag
     8821 atgcacattg caggtcccag actgaccggt gtagatacag gactaatatg actagtagtg
     8881 caaacacttt aaacagtcaa cattctgctt aggatttaaa caaggtccag agtctcaaca
     8941 taatatttaa aatatccagg ttatccaaaa taacccagtg tatgaaaacc aggaaaatct
     9001 taacatggga gaaaagaaga tgatcaatac atgcccatcc tgagatgatt caactattgg
     9061 aatgatcaga tacagacttc aaagcagcta tttataacca gccttcagaa agtattggtg
     9121 aatattctta aacagaatgg aaatgacaaa gcatggagtc cataaattag atgatagttt
     9181 ggaaaaagat ataaacttac aaaccaagaa gctcagtgaa ccacacaact ggataaatta
     9241 acaacaaaag tccaagctta gacacatcat aaagaaactt ctgaaaacta aagaccaaga
     9301 aaaataagat cagccagaga aaaacgatac atttcattca ggtgaacaat tctttgaaag
     9361 actggatctt caccagaaac tatagaggcc agaaagaagt ggaacatttt tagttttgaa
     9421 ataactgtca cccaagaatt ctatatccag taaaaatttc tattttactg gaataaaaga
     9481 atgaaataaa gacattctca aatgaaggca agctgaggaa attcataacc aaagaatctg
     9541 ctttaaaaaa atgttaaacc aagttcttca gacagaagag attactgggg gcaattcaaa
     9601 actttgggaa tgcaggaaga acatcataaa tggcaaaagt ccacataaat atgaaactat
     9661 tctttacttc tttaagagtt atgtgatggt tgaattaagt catgatactg tctgatggag
     9721 gcttcagtgt atacagatgt aagacaacta gaacatgagg ggagaagggt gaagggacct
     9781 agatggtagt gaggtttcta catgctactt gaaatggcaa aacattaatc taaattgact
     9841 gtaagagtat gtgtatttgg ccgggcagg
//
LOCUS       NM_001014437            2737 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens cysteinyl-tRNA synthetase 1 (CARS1), transcript variant
            3, mRNA.
ACCESSION   NM_001014437
VERSION     NM_001014437.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2737)
  AUTHORS   Yuan M, Yan R, Zhang Y, Qiu Y, Jiang Z, Liu H, Wang Y, Sun L, Zhang
            H and Gao P.
  TITLE     CARS senses cysteine deprivation to activate AMPK for cell survival
  JOURNAL   EMBO J 40 (21), e108028 (2021)
   PUBMED   34472622
  REMARK    GeneRIF: CARS senses cysteine deprivation to activate AMPK for cell
            survival.
REFERENCE   2  (bases 1 to 2737)
  AUTHORS   Cho S, Kim SB, Lee Y, Song EC, Kim U, Kim HY, Suh JH, Goughnour PC,
            Kim Y, Yoon I, Shin NY, Kim D, Kim IK, Kang CY, Jang SY, Kim MH and
            Kim S.
  TITLE     Endogenous TLR2 ligand embedded in the catalytic region of human
            cysteinyl-tRNA synthetase 1
  JOURNAL   J Immunother Cancer 8 (1) (2020)
   PUBMED   32461342
  REMARK    GeneRIF: Endogenous TLR2 ligand embedded in the catalytic region of
            human cysteinyl-tRNA synthetase 1.
REFERENCE   3  (bases 1 to 2737)
  AUTHORS   Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T,
            Verheijen FW, Smith DEC, Mendes MI, Hussaarts-Odijk L, van der
            Meijden E, van Slegtenhorst M, Wilke M, Vermeulen W, Raams A, Groden
            C, Shimada S, Meyer-Schuman R, Hou YM, Gahl WA, Antonellis A,
            Salomons GS and Mancini GMS.
  TITLE     Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive
            Disease That Includes Microcephaly, Developmental Delay, and Brittle
            Hair and Nails
  JOURNAL   Am J Hum Genet 104 (3), 520-529 (2019)
   PUBMED   30824121
  REMARK    GeneRIF: Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System,
            Recessive Disease That Includes Microcephaly, Developmental Delay,
            and Brittle Hair and Nails.
REFERENCE   4  (bases 1 to 2737)
  AUTHORS   Tian T, Xiao L, Du J, Zhu X, Gu Y, Qin N, Yan C, Liu L, Ma H, Jiang
            Y, Chen J, Yu H and Dai J.
  TITLE     Polymorphisms in CARS are associated with gastric cancer risk: a
            two-stage case-control study in the Chinese population
  JOURNAL   Gastric Cancer 20 (6), 940-947 (2017)
   PUBMED   28409418
  REMARK    GeneRIF: Four single nucleotide polymorphisms (SNPs) of CARS were
            significantly associated with gastric cancer risk in both the
            discovery stage and the validation stage
REFERENCE   5  (bases 1 to 2737)
  AUTHORS   Al-waheeb S, Alwohhaib M, Abdelghani A, Al-Sharrah S, Al-Shafey E,
            Al-Sahow A, Alyatama N, Dashti AA and Hussain N.
  TITLE     Evaluation of associations between single nucleotide polymorphisms
            in the FRMD3 and CARS genes and diabetic nephropathy in a Kuwaiti
            population
  JOURNAL   Genet Mol Res 15 (1) (2016)
   PUBMED   26909942
  REMARK    GeneRIF: The risk (G and C) and non-risk (C and T) allele
            frequencies of the SNPs at the rs1888747 and rs739401 loci of FRMD3
            and CARS, respectively, did not differ significantly between the
            diabetics with (case) and without (control) nephropathy (P > 0.05).
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2737)
  AUTHORS   Cools J, Wlodarska I, Somers R, Mentens N, Pedeutour F, Maes B, De
            Wolf-Peeters C, Pauwels P, Hagemeijer A and Marynen P.
  TITLE     Identification of novel fusion partners of ALK, the anaplastic
            lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory
            myofibroblastic tumor
  JOURNAL   Genes Chromosomes Cancer 34 (4), 354-362 (2002)
   PUBMED   12112524
  REMARK    GeneRIF: CARS is a novel fusion partner of anaplastic lymphoma
            kinase in anaplastic large-cell lymphoma and inflammatory
            myofibroblastic tumor cases.
REFERENCE   7  (bases 1 to 2737)
  AUTHORS   Davidson E, Caffarella J, Vitseva O, Hou YM and King MP.
  TITLE     Isolation of two cDNAs encoding functional human cytoplasmic
            cysteinyl-tRNA synthetase
  JOURNAL   Biol Chem 382 (3), 399-406 (2001)
   PUBMED   11347887
REFERENCE   8  (bases 1 to 2737)
  AUTHORS   Kim JE, Kim KH, Lee SW, Seol W, Shiba K and Kim S.
  TITLE     An elongation factor-associating domain is inserted into human
            cysteinyl-tRNA synthetase by alternative splicing
  JOURNAL   Nucleic Acids Res 28 (15), 2866-2872 (2000)
   PUBMED   10908348
REFERENCE   9  (bases 1 to 2737)
  AUTHORS   Cruzen ME and Arfin SM.
  TITLE     Nucleotide and deduced amino acid sequence of human cysteinyl-tRNA
            synthetase
  JOURNAL   DNA Seq 4 (4), 243-248 (1994)
   PUBMED   7987009
REFERENCE   10  (bases 1 to 2737)
  AUTHORS   Cruzen ME, Bengtsson U, McMahon J, Wasmuth JJ and Arfin SM.
  TITLE     Assignment of the cysteinyl-tRNA synthetase gene (CARS) to 11p15.5
  JOURNAL   Genomics 15 (3), 692-693 (1993)
   PUBMED   8468064
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX647906.1, AK302644.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380525.9/ ENSP00000369897.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX647906.1.
            On Jun 2, 2019 this sequence version replaced NM_001014437.2.
            Summary: This gene encodes a class 1 aminoacyl-tRNA synthetase,
            cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA
            synthetases catalyzes the aminoacylation of a specific tRNA or tRNA
            isoaccepting family with the cognate amino acid. This gene is one
            of several located near the imprinted gene domain on chromosome
            11p15.5, an important tumor-suppressor gene region. Alterations in
            this region have been associated with Beckwith-Wiedemann syndrome,
            Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung,
            ovarian and breast cancers. Alternative splicing of this gene
            results in multiple transcript variants. [provided by RefSeq, Aug
            2010].
            Transcript Variant: This variant (3) includes an additional
            in-frame exon in the 5' coding region, and uses an alternate splice
            site that causes a frameshift in the 3' coding region, compared to
            variant 1. The encoded isoform (c) has an additional segment in the
            N-terminal region and a distinct and longer C-terminus, compared to
            isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2737
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..2737
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /note="cysteinyl-tRNA synthetase 1"
                     /db_xref="GeneID:833"
                     /db_xref="HGNC:HGNC:1493"
                     /db_xref="MIM:123859"
     misc_feature    12..14
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /note="upstream in-frame stop codon"
     CDS             57..2552
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /EC_number="6.1.1.16"
                     /note="isoform c is encoded by transcript variant 3;
                     cysteine tRNA ligase 1, cytoplasmic; cysteine translase;
                     cysteine--tRNA ligase, cytoplasmic"
                     /codon_start=1
                     /product="cysteine--tRNA ligase, cytoplasmic isoform c"
                     /protein_id="NP_001014437.1"
                     /db_xref="CCDS:CCDS41600.1"
                     /db_xref="GeneID:833"
                     /db_xref="HGNC:HGNC:1493"
                     /db_xref="MIM:123859"
                     /translation="MADSSGQQAPDYRSILSISDEAARAQALNEHLSTRSYVQGYSLSQ
                     ADVDAFRQLSAPPADPQLFHVARWFRHIEALLGSPCGKGQPCRLQASKGRRVQPQWSPP
                     AGTQPCRLHLYNSLTRNKEVFIPQDGKKVTWYCCGPTVYDASHMGHARSYISFDILRRV
                     LKDYFKFDVFYCMNITDIDDKIIKRARQNHLFEQYREKRPEAAQLLEDVQAALKPFSVK
                     LNETTDPDKKQMLERIQHAVQLATEPLEKAVQSRLTGEEVNSCVEVLLEEAKDLLSDWL
                     DSTLGCDVTDNSIFSKLPKFWEGDFHRDMEALNVLPPDVLTRVSEYVPEIVNFVQKIVD
                     NGYGYVSNGSVYFDTAKFASSEKHSYGKLVPEAVGDQKALQEGEGDLSISADRLSEKRS
                     PNDFALWKASKPGEPSWPCPWGKGRPGWHIECSAMAGTLLGASMDIHGGGFDLRFPHHD
                     NELAQSEAYFENDCWVRYFLHTGHLTIAGCKMSKSLKNFITIKDALKKHSARQLRLAFL
                     MHSWKDTLDYSSNTMESALQYEKFLNEFFLNVKDILRAPVDITGQFEKWGEEEAELNKN
                     FYDKKTAIHKALCDNVDTRTVMEEMRALVSQCNLYMAARKAVRKRPNQALLENIALYLT
                     HMLKIFGAVEEDSSLGFPVGGPGTSLSLEATVMPYLQVLSEFREGVRKIAREQKVPEIL
                     QLSDALRDNILPELGVRFEDHEGLPTVVKLVDRNTLLKEREEKRRVEEEKRKKKEEAAR
                     RKQEQEAAKLAKMKIPPSEMFLSETDKYSKFDENGLPTHDMEGKELSKGQAKKLKKLFE
                     AQEKLYKEYLQMAQNGSFQ"
     regulatory      2716..2721
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /note="hexamer: AATAAA"
     polyA_site      2737
                     /gene="CARS1"
                     /gene_synonym="CARS; CYSRS; MCDDBH; MDBH; MGC:11246"
                     /note="major polyA site"
ORIGIN
        1 gcatcagatt ctaggaagtg tctgtagccg cagctgcggg tccgggattc ccagccatgg
       61 cagattcctc cgggcagcag gctcctgact acaggtccat tctgagcatt agtgacgagg
      121 cagccagggc acaagccctg aacgagcacc tcagcacgcg tagctatgtc caggggtact
      181 cactgtccca ggcagacgtg gacgcgttca ggcagctctc ggccccgccc gctgaccccc
      241 agctcttcca cgtggctcgg tggttcaggc acatagaagc gctcctgggt agcccctgtg
      301 gcaaaggcca gccctgcagg ctccaagcaa gcaaaggccg gcgtgtgcag ccccagtggt
      361 cccctcctgc tgggacccag ccatgcagac tccaccttta caacagcctc accaggaaca
      421 aggaagtgtt catacctcaa gatgggaaaa aggtgacgtg gtattgctgt gggccaaccg
      481 tctatgacgc atctcacatg gggcacgcca ggtcctacat ctcttttgat atcttgagaa
      541 gagtgttgaa ggattacttc aaatttgatg tcttttattg catgaacatt acggatattg
      601 atgacaagat catcaagagg gcccggcaga accacctgtt cgagcagtat cgggagaaga
      661 ggcctgaagc ggcacagctc ttggaggatg ttcaggccgc cctgaagcca ttttcagtaa
      721 aattaaatga gaccacggat cccgataaaa agcagatgct cgaacggatt cagcacgcag
      781 tgcagcttgc cacagagcca cttgagaaag ctgtgcagtc cagactcacg ggagaggaag
      841 tcaacagctg tgtggaggtg ttgctggaag aagccaagga tttgctctct gactggctgg
      901 attctacact tggctgtgat gtcactgaca attccatctt ctccaagctg cccaagttct
      961 gggaggggga cttccacaga gacatggaag ctctgaatgt tctccctcca gatgtcttaa
     1021 cccgggttag tgagtatgtg ccagaaattg tgaactttgt ccagaagatt gtggacaacg
     1081 gttacggcta tgtctccaat gggtctgtct actttgatac agcgaagttt gcttctagcg
     1141 agaagcactc ctatgggaag ctggtgcctg aggccgttgg agatcagaaa gcccttcaag
     1201 aaggggaagg tgacctgagc atctctgcag accgcctgag tgagaagcgc tctcccaacg
     1261 actttgcctt atggaaggcc tctaagcccg gagaaccgtc ctggccgtgc ccttggggaa
     1321 agggtcgtcc gggctggcat atcgagtgct cggccatggc aggcaccctc ctaggggctt
     1381 cgatggacat tcacggaggt gggttcgacc tccggttccc ccaccatgac aatgagctgg
     1441 cacagtcgga ggcctacttt gaaaacgact gctgggtcag gtacttcctg cacacaggcc
     1501 acctgaccat tgcaggctgc aaaatgtcaa agtcactaaa aaacttcatc accattaaag
     1561 atgccttgaa aaagcactca gcacggcagt tgcggctggc cttcctcatg cactcgtgga
     1621 aggacaccct ggactactcc agcaacacca tggagtcagc gcttcaatat gagaagttct
     1681 tgaatgagtt tttcttaaat gtgaaagata tccttcgcgc tcctgttgac atcactggtc
     1741 agtttgagaa gtggggagaa gaagaagcag aactgaataa gaacttttat gacaagaaga
     1801 cagcaattca caaagccctc tgtgacaatg ttgacacccg caccgtcatg gaagagatgc
     1861 gggccttggt cagtcagtgc aacctctata tggcagcccg gaaagccgtg aggaagaggc
     1921 ccaaccaggc tctgctggag aacatcgccc tgtacctcac ccatatgctg aagatctttg
     1981 gggccgtaga agaggacagc tccctgggat tcccggtcgg agggcctgga accagcctca
     2041 gtctcgaggc cacagtcatg ccctaccttc aggtgttatc agaattccga gaaggagtgc
     2101 ggaagattgc ccgagagcaa aaagtccctg agattctgca gctcagcgat gccctgcggg
     2161 acaacatcct gcccgagctt ggggtgcggt ttgaagacca cgaaggactg cccacagtgg
     2221 tgaaactggt agacagaaac accttattaa aagagagaga agaaaagaga cgggttgaag
     2281 aggagaagag gaagaagaaa gaggaggcgg cccggaggaa acaggaacaa gaagcagcaa
     2341 agctggccaa gatgaagatt ccccccagtg agatgttctt gtcagaaacc gacaaatact
     2401 ccaagtttga tgaaaatggt ctgcccacac atgacatgga gggcaaagag ctcagcaaag
     2461 ggcaagccaa gaagctgaag aagctcttcg aggctcagga gaagctctac aaggaatatc
     2521 tgcagatggc ccagaatgga agcttccagt gagggggcac aggactgact ttttaaacca
     2581 ttgtggacta gtggctgctg tctgcctcag tgacaatgtc ccagcgctcc tatcatgttt
     2641 acagtcaccc ttgggtccta aattaagagt tgtgttcatg taggttcgtg tcgtcgttgg
     2701 ctctgagaca ttgataataa atttttctca acagtga
//
LOCUS       NM_001014440             872 bp    mRNA    linear   PRI 22-SEP-2023
DEFINITION  Homo sapiens ciliary microtubule associated protein 1B (CIMAP1B),
            transcript variant 3, mRNA.
ACCESSION   NM_001014440
VERSION     NM_001014440.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 872)
  AUTHORS   Leung MR, Zeng J, Wang X, Roelofs MC, Huang W, Zenezini Chiozzi R,
            Hevler JF, Heck AJR, Dutcher SK, Brown A, Zhang R and
            Zeev-Ben-Mordehai T.
  TITLE     Structural specializations of the sperm tail
  JOURNAL   Cell 186 (13), 2880-2896 (2023)
   PUBMED   37327785
REFERENCE   2  (bases 1 to 872)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 872)
  AUTHORS   Shin SY, Fauman EB, Petersen AK, Krumsiek J, Santos R, Huang J,
            Arnold M, Erte I, Forgetta V, Yang TP, Walter K, Menni C, Chen L,
            Vasquez L, Valdes AM, Hyde CL, Wang V, Ziemek D, Roberts P, Xi L,
            Grundberg E, Waldenberger M, Richards JB, Mohney RP, Milburn MV,
            John SL, Trimmer J, Theis FJ, Overington JP, Suhre K, Brosnan MJ,
            Gieger C, Kastenmuller G, Spector TD and Soranzo N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   4  (bases 1 to 872)
  AUTHORS   van der Harst P, Zhang W, Mateo Leach I, Rendon A, Verweij N, Sehmi
            J, Paul DS, Elling U, Allayee H, Li X, Radhakrishnan A, Tan ST, Voss
            K, Weichenberger CX, Albers CA, Al-Hussani A, Asselbergs FW, Ciullo
            M, Danjou F, Dina C, Esko T, Evans DM, Franke L, Gogele M, Hartiala
            J, Hersch M, Holm H, Hottenga JJ, Kanoni S, Kleber ME, Lagou V,
            Langenberg C, Lopez LM, Lyytikainen LP, Melander O, Murgia F, Nolte
            IM, O'Reilly PF, Padmanabhan S, Parsa A, Pirastu N, Porcu E, Portas
            L, Prokopenko I, Ried JS, Shin SY, Tang CS, Teumer A, Traglia M,
            Ulivi S, Westra HJ, Yang J, Zhao JH, Anni F, Abdellaoui A, Attwood
            A, Balkau B, Bandinelli S, Bastardot F, Benyamin B, Boehm BO,
            Cookson WO, Das D, de Bakker PI, de Boer RA, de Geus EJ, de Moor MH,
            Dimitriou M, Domingues FS, Doring A, Engstrom G, Eyjolfsson GI,
            Ferrucci L, Fischer K, Galanello R, Garner SF, Genser B, Gibson QD,
            Girotto G, Gudbjartsson DF, Harris SE, Hartikainen AL, Hastie CE,
            Hedblad B, Illig T, Jolley J, Kahonen M, Kema IP, Kemp JP, Liang L,
            Lloyd-Jones H, Loos RJ, Meacham S, Medland SE, Meisinger C, Memari
            Y, Mihailov E, Miller K, Moffatt MF, Nauck M, Novatchkova M, Nutile
            T, Olafsson I, Onundarson PT, Parracciani D, Penninx BW, Perseu L,
            Piga A, Pistis G, Pouta A, Puc U, Raitakari O, Ring SM, Robino A,
            Ruggiero D, Ruokonen A, Saint-Pierre A, Sala C, Salumets A, Sambrook
            J, Schepers H, Schmidt CO, Sillje HH, Sladek R, Smit JH, Starr JM,
            Stephens J, Sulem P, Tanaka T, Thorsteinsdottir U, Tragante V, van
            Gilst WH, van Pelt LJ, van Veldhuisen DJ, Volker U, Whitfield JB,
            Willemsen G, Winkelmann BR, Wirnsberger G, Algra A, Cucca F, d'Adamo
            AP, Danesh J, Deary IJ, Dominiczak AF, Elliott P, Fortina P, Froguel
            P, Gasparini P, Greinacher A, Hazen SL, Jarvelin MR, Khaw KT,
            Lehtimaki T, Maerz W, Martin NG, Metspalu A, Mitchell BD, Montgomery
            GW, Moore C, Navis G, Pirastu M, Pramstaller PP, Ramirez-Solis R,
            Schadt E, Scott J, Shuldiner AR, Smith GD, Smith JG, Snieder H,
            Sorice R, Spector TD, Stefansson K, Stumvoll M, Tang WH, Toniolo D,
            Tonjes A, Visscher PM, Vollenweider P, Wareham NJ, Wolffenbuttel BH,
            Boomsma DI, Beckmann JS, Dedoussis GV, Deloukas P, Ferreira MA,
            Sanna S, Uda M, Hicks AA, Penninger JM, Gieger C, Kooner JS,
            Ouwehand WH, Soranzo N and Chambers JC.
  TITLE     Seventy-five genetic loci influencing the human red blood cell
  JOURNAL   Nature 492 (7429), 369-375 (2012)
   PUBMED   23222517
REFERENCE   5  (bases 1 to 872)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   6  (bases 1 to 872)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 872)
  AUTHORS   Ganesh SK, Zakai NA, van Rooij FJ, Soranzo N, Smith AV, Nalls MA,
            Chen MH, Kottgen A, Glazer NL, Dehghan A, Kuhnel B, Aspelund T, Yang
            Q, Tanaka T, Jaffe A, Bis JC, Verwoert GC, Teumer A, Fox CS,
            Guralnik JM, Ehret GB, Rice K, Felix JF, Rendon A, Eiriksdottir G,
            Levy D, Patel KV, Boerwinkle E, Rotter JI, Hofman A, Sambrook JG,
            Hernandez DG, Zheng G, Bandinelli S, Singleton AB, Coresh J, Lumley
            T, Uitterlinden AG, Vangils JM, Launer LJ, Cupples LA, Oostra BA,
            Zwaginga JJ, Ouwehand WH, Thein SL, Meisinger C, Deloukas P, Nauck
            M, Spector TD, Gieger C, Gudnason V, van Duijn CM, Psaty BM,
            Ferrucci L, Chakravarti A, Greinacher A, O'Donnell CJ, Witteman JC,
            Furth S, Cushman M, Harris TB and Lin JP.
  TITLE     Multiple loci influence erythrocyte phenotypes in the CHARGE
            Consortium
  JOURNAL   Nat Genet 41 (11), 1191-1198 (2009)
   PUBMED   19862010
REFERENCE   8  (bases 1 to 872)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Behal A, Touchman JW, Bouffard G,
            Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and splice
            variants
  JOURNAL   Mol Vis 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 872)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP,
            Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird
            CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien
            KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   10  (bases 1 to 872)
  AUTHORS   Usuki K, Gonez LJ, Wernstedt C, Moren A, Miyazono K, Claesson-Welsh
            L and Heldin CH.
  TITLE     Structural properties of 3.0 kb and 3.2 kb transcripts encoding
            platelet-derived endothelial cell growth factor/thymidine
            phosphorylase in A431 cells
  JOURNAL   Biochim Biophys Acta 1222 (3), 411-414 (1994)
   PUBMED   8038210
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.4280738.1,
            DRR138524.284305.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000329363.9/ ENSP00000382804.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AW291097.1, BG149596.1 and BC127935.1.
            On May 19, 2020 this sequence version replaced NM_001014440.3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..872
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     gene            1..872
                     /gene="CIMAP1B"
                     /gene_synonym="FAP123; ODF3B; ODF3L3"
                     /note="ciliary microtubule associated protein 1B"
                     /db_xref="GeneID:440836"
                     /db_xref="HGNC:HGNC:34388"
     misc_feature    36..38
                     /gene="CIMAP1B"
                     /gene_synonym="FAP123; ODF3B; ODF3L3"
                     /note="upstream in-frame stop codon"
     CDS             57..818
                     /gene="CIMAP1B"
                     /gene_synonym="FAP123; ODF3B; ODF3L3"
                     /note="isoform 3 is encoded by transcript variant 3; orf2
                     5' to PD-ECGF/TP; outer dense fiber protein 3B; outer dense
                     fiber protein 3-like protein 3; outer dense fiber of sperm
                     tails 3B"
                     /codon_start=1
                     /product="ciliary microtubule associated protein 1B isoform
                     3"
                     /protein_id="NP_001014440.2"
                     /db_xref="CCDS:CCDS43039.1"
                     /db_xref="GeneID:440836"
                     /db_xref="HGNC:HGNC:34388"
                     /translation="MGSDAWVGLWRPHRPRGPIAAHYGGPGPKYKLPPNTGYALHDPSR
                     PRAPAFTFGARFPTQQTTCGPGPGHLVPARMTVRGTDGAPAYSIYGRPRRSAPFLTPGP
                     GRYFPERAGNATYPSAPRHTIAPRNWGVQAEQQSPGPAAYTVPSLLGPRVIGKVSAPTC
                     SIYGRRAAGSFFEDLSKTPGPCAYQVVSPGVYKSRAPQFTILARTSLPQDNTRKPGPAA
                     YNVDQHRKPRGWSFGIRHSDYLAPLVTDADN"
     misc_feature    600..677
                     /gene="CIMAP1B"
                     /gene_synonym="FAP123; ODF3B; ODF3L3"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MYP8.1);
                     Region: STPGR"
     polyA_site      872
                     /gene="CIMAP1B"
                     /gene_synonym="FAP123; ODF3B; ODF3L3"
                     /note="major polyA site"
ORIGIN
        1 acgctaggag ctaccacaac aggtgctgcg agccgtaagc gccccccacc cgcgctatgg
       61 gctcggacgc ctgggtgggc ctttggcggc cacaccggcc ccgcggcccc atcgcggcgc
      121 actacggagg ccccgggccc aaatacaagc tgccgcccaa caccggctac gccctgcatg
      181 acccgtcgcg gccgcgcgcc cccgccttca ccttcggcgc gcgcttcccc acgcagcaga
      241 cgacgtgcgg ccccgggcca ggccacctgg tgcccgctcg catgaccgtg cgcggcaccg
      301 acggcgcccc cgcctactcc atctacggcc gcccacgccg ctcagcgccc ttcctcactc
      361 cgggacctgg caggtacttc ccggagcgag cggggaacgc gacgtacccc agtgcgcctc
      421 ggcacaccat tgctccccga aactggggtg tccaggcgga acagcagagc ccaggtcccg
      481 cggcctatac ggtgccctcg ctcttgggtc cgcgcgtcat cggcaaagtc tccgccccaa
      541 cttgctccat ctacggccgc agagcggctg gcagtttctt cgaggacctc agcaagaccc
      601 cgggcccctg cgcctatcag gtcgtgagtc caggggtcta caagtcccgg gccccccagt
      661 tcacgattct ggcgcggact tcgctccccc aagacaacac tcggaagcca gggcccgcgg
      721 cctacaacgt ggatcagcac cggaagcccc gcggctggag tttcgggatc cggcactcgg
      781 actacctggc cccgctggtg accgacgcgg acaactgacc cgccaggcgg gagcggcccc
      841 acacgtgttt gcttaaagtc tgcgagtccg ca
//
LOCUS       NM_001014443            2315 bp    mRNA    linear   PRI 06-JUL-2023
DEFINITION  Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript
            variant 3, mRNA.
ACCESSION   NM_001014443
VERSION     NM_001014443.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2315)
  AUTHORS   Wang QD, Liu LL, Li D, Gao L and Zhang MJ.
  TITLE     Salt-like transcription factor 4 promotes laryngeal cancer
            progression through transcriptional activation of ubiquitin-specific
            protease 21 to stabilize Yin Yang 1
  JOURNAL   Pathol Int 73 (3), 109-119 (2023)
   PUBMED   36285444
  REMARK    GeneRIF: Salt-like transcription factor 4 promotes laryngeal cancer
            progression through transcriptional activation of ubiquitin-specific
            protease 21 to stabilize Yin Yang 1.
REFERENCE   2  (bases 1 to 2315)
  AUTHORS   Wu Y, Guo Y and Wang Q.
  TITLE     USP21 accelerates the proliferation and glycolysis of esophageal
            cancer cells by regulating the STAT3/FOXO1 pathway
  JOURNAL   Tissue Cell 79, 101916 (2022)
   PUBMED   36095935
  REMARK    GeneRIF: USP21 accelerates the proliferation and glycolysis of
            esophageal cancer cells by regulating the STAT3/FOXO1 pathway.
REFERENCE   3  (bases 1 to 2315)
  AUTHORS   Zhang Q, Chen Z, Tang Q, Wang Z, Lu J, You Y and Wang H.
  TITLE     USP21 promotes self-renewal and tumorigenicity of mesenchymal
            glioblastoma stem cells by deubiquitinating and stabilizing FOXD1
  JOURNAL   Cell Death Dis 13 (8), 712 (2022)
   PUBMED   35974001
  REMARK    GeneRIF: USP21 promotes self-renewal and tumorigenicity of
            mesenchymal glioblastoma stem cells by deubiquitinating and
            stabilizing FOXD1. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2315)
  AUTHORS   Li Z, Liu X, Yu H, Wang S, Zhao S and Jiang G.
  TITLE     USP21 regulates Hippo signaling to promote radioresistance by
            deubiquitinating FOXM1 in cervical cancer
  JOURNAL   Hum Cell 35 (1), 333-347 (2022)
   PUBMED   34825342
  REMARK    GeneRIF: USP21 regulates Hippo signaling to promote radioresistance
            by deubiquitinating FOXM1 in cervical cancer.
REFERENCE   5  (bases 1 to 2315)
  AUTHORS   Kim A, Koo JH, Jin X, Kim W, Park SY, Park S, Rhee EP, Choi CS and
            Kim SG.
  TITLE     Ablation of USP21 in skeletal muscle promotes oxidative fibre
            phenotype, inhibiting obesity and type 2 diabetes
  JOURNAL   J Cachexia Sarcopenia Muscle 12 (6), 1669-1689 (2021)
   PUBMED   34523817
  REMARK    GeneRIF: Ablation of USP21 in skeletal muscle promotes oxidative
            fibre phenotype, inhibiting obesity and type 2 diabetes.
REFERENCE   6  (bases 1 to 2315)
  AUTHORS   Ye Y, Akutsu M, Reyes-Turcu F, Enchev RI, Wilkinson KD and Komander
            D.
  TITLE     Polyubiquitin binding and cross-reactivity in the USP domain
            deubiquitinase USP21
  JOURNAL   EMBO Rep 12 (4), 350-357 (2011)
   PUBMED   21399617
  REMARK    GeneRIF: Study report that USP21 cleaves Ub polymers, and with
            reduced activity also targets ISG15, but is inactive against NEDD8.
REFERENCE   7  (bases 1 to 2315)
  AUTHORS   Xu G, Tan X, Wang H, Sun W, Shi Y, Burlingame S, Gu X, Cao G, Zhang
            T, Qin J and Yang J.
  TITLE     Ubiquitin-specific peptidase 21 inhibits tumor necrosis factor
            alpha-induced nuclear factor kappaB activation via binding to and
            deubiquitinating receptor-interacting protein 1
  JOURNAL   J Biol Chem 285 (2), 969-978 (2010)
   PUBMED   19910467
  REMARK    GeneRIF: USP21 plays an important role in the down-regulation of
            TNFalpha-induced NF-kappaB activation through deubiquitinating RIP1.
REFERENCE   8  (bases 1 to 2315)
  AUTHORS   Sowa ME, Bennett EJ, Gygi SP and Harper JW.
  TITLE     Defining the human deubiquitinating enzyme interaction landscape
  JOURNAL   Cell 138 (2), 389-403 (2009)
   PUBMED   19615732
REFERENCE   9  (bases 1 to 2315)
  AUTHORS   Gong L, Kamitani T, Millas S and Yeh ET.
  TITLE     Identification of a novel isopeptidase with dual specificity for
            ubiquitin- and NEDD8-conjugated proteins
  JOURNAL   J Biol Chem 275 (19), 14212-14216 (2000)
   PUBMED   10799498
REFERENCE   10  (bases 1 to 2315)
  AUTHORS   Smith TS and Southan C.
  TITLE     Sequencing, tissue distribution and chromosomal assignment of a
            novel ubiquitin-specific protease USP23
  JOURNAL   Biochim Biophys Acta 1490 (1-2), 184-188 (2000)
   PUBMED   10786635
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.822388.1,
            SRR1163657.189286.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368002.8/ ENSP00000356981.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI755746.1, BC090946.1,
            AF177758.1 and AI038040.1.
            On Nov 23, 2018 this sequence version replaced NM_001014443.2.
            Summary: This gene encodes a member of the C19 peptidase family,
            also known as family 2 of ubiquitin carboxy-terminal hydrolases.
            The encoded protein cleaves ubiquitin from ubiquitinated proteins
            for recycling in intracellular protein degradation. The encoded
            protein is also able to release NEDD8, a ubiquitin-like protein,
            from NEDD8-conjugated proteins. This gene has been referred to as
            USP16 and USP23 but is now known as USP21. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Feb 2016].
            Transcript Variant: This variant (3) differs in the 5' UTR and
            coding sequence compared to variant 4. The resulting isoform (c) is
            shorter at the N-terminus compared to isoform a. Variants 1 and 3
            both encode the same isoform (c).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2315
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..2315
                     /gene="USP21"
                     /gene_synonym="USP16; USP23"
                     /note="ubiquitin specific peptidase 21"
                     /db_xref="GeneID:27005"
                     /db_xref="HGNC:HGNC:12620"
                     /db_xref="MIM:604729"
     misc_feature    288..290
                     /gene="USP21"
                     /gene_synonym="USP16; USP23"
                     /note="upstream in-frame stop codon"
     CDS             342..2039
                     /gene="USP21"
                     /gene_synonym="USP16; USP23"
                     /EC_number="3.4.19.12"
                     /note="isoform c is encoded by transcript variant 3;
                     ubiquitin specific protease 21; ubiquitin thiolesterase 21;
                     ubiquitin-specific processing protease 21; deubiquitinating
                     enzyme 21; ubiquitin carboxyl-terminal hydrolase 21;
                     ubiquitin-specific protease 16; NEDD8-specific protease;
                     ubiquitin thioesterase 21"
                     /codon_start=1
                     /product="ubiquitin carboxyl-terminal hydrolase 21 isoform
                     c"
                     /protein_id="NP_001014443.1"
                     /db_xref="CCDS:CCDS30920.1"
                     /db_xref="GeneID:27005"
                     /db_xref="HGNC:HGNC:12620"
                     /db_xref="MIM:604729"
                     /translation="MPQASEHRLGRTREPPVNIQPRVGSKLPFAPRARSKERRNPASGP
                     NPMLRPLPPRPGLPDERLKKLELGRGRTSGPRPRGPLRADHGVPLPGSPPPTVALPLPS
                     RTNLARSKSVSSGDLRPMGIALGGHRGTGELGAALSRLALRPEPPTLRRSTSLRRLGGF
                     PGPPTLFSIRTEPPASHGSFHMISARSSEPFYSDDKMAHHTLLLGSGHVGLRNLGNTCF
                     LNAVLQCLSSTRPLRDFCLRRDFRQEVPGGGRAQELTEAFADVIGALWHPDSCEAVNPT
                     RFRAVFQKYVPSFSGYSQQDAQEFLKLLMERLHLEINRRGRRAPPILANGPVPSPPRRG
                     GALLEEPELSDDDRANLMWKRYLEREDSKIVDLFVGQLKSCLKCQACGYRSTTFEVFCD
                     LSLPIPKKGFAGGKVSLRDCFNLFTKEEELESENAPVCDRCRQKTRSTKKLTVQRFPRI
                     LVLHLNRFSASRGSIKKSSVGVDFPLQRLSLGDFASDKAGSPVYQLYALCNHSGSVHYG
                     HYTALCRCQTGWHVYNDSRVSPVSENQVASSEGYVLFYQLMQEPPRCL"
     misc_feature    342..650
                     /gene="USP21"
                     /gene_synonym="USP16; USP23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UK80.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    741..797
                     /gene="USP21"
                     /gene_synonym="USP16; USP23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UK80.1);
                     Region: Nuclear export signal.
                     /evidence=ECO:0000269|PubMed:21888622"
     regulatory      2295..2300
                     /regulatory_class="polyA_signal_sequence"
                     /gene="USP21"
                     /gene_synonym="USP16; USP23"
                     /note="hexamer: AATAAA"
     polyA_site      2315
                     /gene="USP21"
                     /gene_synonym="USP16; USP23"
                     /note="major polyA site"
ORIGIN
        1 ggtggccggg cgggaccaac aaagatggcg gcggcccctg cggcgggagc gatctgggca
       61 acggctgcgg ctaaagctgc agccgggccc acgggggggc tgcacggggg tagtaggggg
      121 tggccctgaa ctggggcctg gccctggctg gcctctcccg ccgcctcact gggggacagg
      181 tactggggat acgatggctg attcgataga tctggttcct gccctcagtg cgtatactgc
      241 tccccacttt cgttgatgtg gtagtggtga tgactgagcc aaccacctaa tgtggaaatg
      301 agaggacagc aagattgtgg gtccagcctg tggtgtccac aatgccccag gcctctgagc
      361 accgcctggg ccgtacccga gagccacctg ttaatatcca gccccgagtg ggatccaagc
      421 taccatttgc ccccagggcc cgcagcaagg agcgcagaaa cccagcctct gggccaaacc
      481 ccatgttacg acctctgcct ccccggccag gtctgcctga tgaacggctc aagaaactgg
      541 agctgggacg gggacggacc tcaggccctc gtcccagagg cccccttcga gcagatcatg
      601 gggttcccct gcctggctca ccacccccaa cagtggcttt gcctctccca tctcggacca
      661 acttagcccg ttccaagtct gtgagcagtg gggacttgcg tccaatgggg attgccttgg
      721 gagggcaccg tggcaccgga gagcttgggg ctgcactgag ccgcttggcc ctccggcctg
      781 agccacccac tttgagacgt agcacttctc tccgccgcct agggggcttt cctggacccc
      841 ctaccctgtt cagcatacgg acagagcccc ctgcttccca tggctccttc cacatgatat
      901 ccgcccggtc ctctgagcct ttctactctg atgacaagat ggctcatcac acactccttc
      961 tgggctctgg tcatgttggc cttcgaaacc tgggaaacac gtgcttcctg aatgctgtgc
     1021 tgcagtgtct gagcagcact cgacctcttc gggacttctg tctgagaagg gacttccggc
     1081 aagaggtgcc tggaggaggc cgagcccaag agctcactga agcctttgca gatgtgattg
     1141 gtgccctctg gcaccctgac tcctgcgaag ctgtgaatcc tactcgattc cgagctgtct
     1201 tccagaaata tgttccctcc ttctctggat acagccagca ggatgcccaa gagttcctga
     1261 agctcctcat ggagcggcta caccttgaaa tcaaccgccg aggccgccgg gctccaccga
     1321 tacttgccaa tggtccagtt ccctctccac cccgccgagg aggggctctg ctagaagaac
     1381 ctgagttaag tgatgatgac cgagccaacc taatgtggaa acgttacctg gagcgagagg
     1441 acagcaagat tgtggacctg tttgtgggcc agttgaaaag ttgtctcaag tgccaggcct
     1501 gtgggtatcg ctccacgacc ttcgaggttt tttgtgacct gtccctgccc atccccaaga
     1561 aaggatttgc tgggggcaag gtgtctctgc gggattgttt caaccttttc actaaggaag
     1621 aagagctaga gtcggagaat gccccagtgt gtgaccgatg tcggcagaaa actcgaagta
     1681 ccaaaaagtt gacagtacaa agattccctc gaatcctcgt gctccatctg aatcgatttt
     1741 ctgcctcccg aggctccatc aaaaaaagtt cagtaggtgt agactttcca ctgcagcgac
     1801 tgagcctagg ggactttgcc agtgacaaag ccggaagtcc tgtataccag ctgtatgccc
     1861 tttgcaacca ctcaggcagc gtccactatg gccactacac agccctgtgc cggtgccaga
     1921 ctggttggca tgtctacaat gactctcgtg tctcccctgt cagtgaaaac caggtggcat
     1981 ccagcgaggg ctacgtgctg ttctaccaac tgatgcagga gccaccccgg tgcctgtgac
     2041 acctctaagc tctggcacct gtgaagccct ttaaacaccc ttaagcccca ggctccccgt
     2101 ttacctcaga gacgtctatt tttgtgtctt tttaatcggg gaggggggag ggggtggttg
     2161 tagctccatt atttttttta ttaaaaaata cccttccacc tggaggctcc cttgtctccc
     2221 agccccatgt acaaagctca ccaagcccct gcccatgtac agcccccaga ccctctgcaa
     2281 tatcactttt tgtgaataaa tttattaaga aaaaa
//
LOCUS       NM_001014446            1109 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant
            1, mRNA.
ACCESSION   NM_001014446
VERSION     NM_001014446.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1109)
  AUTHORS   Maki M, JeongMin H, Nakagawa T, Kawai H, Sakamoto N, Sato Y and
            Noguchi M.
  TITLE     Aberrant OCIAD2 demethylation in lung adenocarcinoma is associated
            with outcome
  JOURNAL   Pathol Int 72 (10), 496-505 (2022)
   PUBMED   35920378
  REMARK    GeneRIF: Aberrant OCIAD2 demethylation in lung adenocarcinoma is
            associated with outcome.
REFERENCE   2  (bases 1 to 1109)
  AUTHORS   Chojnacka KJ, Elancheliyan P, Mussulini BHM, Mohanraj K, Callegari
            S, Gosk A, Banach T, Goral T, Szczepanowska K, Rehling P, Serwa RA
            and Chacinska A.
  TITLE     Ovarian carcinoma immunoreactive antigen-like protein 2 (OCIAD2) is
            a novel complex III-specific assembly factor in mitochondria
  JOURNAL   Mol Biol Cell 33 (4), ar29 (2022)
   PUBMED   35080992
  REMARK    GeneRIF: Ovarian carcinoma immunoreactive antigen-like protein 2
            (OCIAD2) is a novel complex III-specific assembly factor in
            mitochondria.
REFERENCE   3  (bases 1 to 1109)
  AUTHORS   Hong J, Shiba-Ishii A, Kim Y, Noguchi M and Sakamoto N.
  TITLE     Ovarian carcinoma immunoreactive antigen domain 2 controls
            mitochondrial apoptosis in lung adenocarcinoma
  JOURNAL   Cancer Sci 112 (12), 5114-5126 (2021)
   PUBMED   34628698
  REMARK    GeneRIF: Ovarian carcinoma immunoreactive antigen domain 2 controls
            mitochondrial apoptosis in lung adenocarcinoma.
REFERENCE   4  (bases 1 to 1109)
  AUTHORS   Yang Z, Ouyang T, Aoyagi H, Wang T, Xing X, Zhang Y, Wang Y, Li Y,
            Aizaki H, Li S and Kong L.
  TITLE     Cellular OCIAD2 protein is a proviral factor for hepatitis C virus
            replication
  JOURNAL   Int J Biol Macromol 188, 147-159 (2021)
   PUBMED   34371038
  REMARK    GeneRIF: Cellular OCIAD2 protein is a proviral factor for hepatitis
            C virus replication.
REFERENCE   5  (bases 1 to 1109)
  AUTHORS   Sakashita M, Sakashita S, Murata Y, Shiba-Ishii A, Kim Y, Matsuoka
            R, Nakano N, Sato Y and Noguchi M.
  TITLE     High expression of ovarian cancer immunoreactive antigen domain
            containing 2 (OCIAD2) is associated with poor prognosis in lung
            adenocarcinoma
  JOURNAL   Pathol Int 68 (11), 596-604 (2018)
   PUBMED   30320419
  REMARK    GeneRIF: Our results suggest that OCIAD2 could be a useful
            prognostic biomarker of lung adenocarcinoma
REFERENCE   6  (bases 1 to 1109)
  AUTHORS   Han J, Jung S, Jang J, Kam TI, Choi H, Kim BJ, Nah J, Jo DG,
            Nakagawa T, Nishimura M and Jung YK.
  TITLE     OCIAD2 activates gamma-secretase to enhance amyloid beta production
            by interacting with nicastrin
  JOURNAL   Cell Mol Life Sci 71 (13), 2561-2576 (2014)
   PUBMED   24270855
  REMARK    GeneRIF: OCIAD2 also increased the interaction of nicastrin with C99
            and stimulated APP processing via gamma-secretase activation, but
            did not affect Notch processing
REFERENCE   7  (bases 1 to 1109)
  AUTHORS   Zhang R, Zhao C, Xiong Z and Zhou X.
  TITLE     Pathway bridge based multiobjective optimization approach for
            lurking pathway prediction
  JOURNAL   Biomed Res Int 2014, 351095 (2014)
   PUBMED   24949437
  REMARK    GeneRIF: it well explained the mechanism of TGFbeta induced OCIAD2
            expression in cancer microenvironment, therefore providing an
            important clue for the future functional analysis of OCIAD2 in tumor
            pathogenesis.
REFERENCE   8  (bases 1 to 1109)
  AUTHORS   Nagata C, Kobayashi H, Sakata A, Satomi K, Minami Y, Morishita Y,
            Ohara R, Yoshikawa H, Arai Y, Nishida M and Noguchi M.
  TITLE     Increased expression of OCIA domain containing 2 during stepwise
            progression of ovarian mucinous tumor
  JOURNAL   Pathol Int 62 (7), 471-476 (2012)
   PUBMED   22726067
  REMARK    GeneRIF: Like OCIAD1, OCIAD2 is a cancer-related protein and its
            expression level increases during the course of malignant
            progression and is thought to be a very useful marker for evaluating
            the malignancy of ovarian mucinous tumors.
REFERENCE   9  (bases 1 to 1109)
  AUTHORS   Ishiyama T, Kano J, Anami Y, Onuki T, Iijima T, Morisita Y, Yokota J
            and Noguchi M.
  TITLE     OCIA domain containing 2 is highly expressed in adenocarcinoma mixed
            subtype with bronchioloalveolar carcinoma component and is
            associated with better prognosis
  JOURNAL   Cancer Sci 98 (1), 50-57 (2007)
   PUBMED   17054434
REFERENCE   10  (bases 1 to 1109)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK298305.1, AW248322.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000508632.6/ ENSP00000423014.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK298305.1 and AC105444.2.
            On May 17, 2019 this sequence version replaced NM_001014446.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1109
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p11"
     gene            1..1109
                     /gene="OCIAD2"
                     /note="OCIA domain containing 2"
                     /db_xref="GeneID:132299"
                     /db_xref="HGNC:HGNC:28685"
                     /db_xref="MIM:619633"
     CDS             180..644
                     /gene="OCIAD2"
                     /note="isoform 1 is encoded by transcript variant 1; OCIA
                     domain-containing protein 2; ovarian carcinoma
                     immunoreactive antigen-like protein; ovarian cancer
                     immunoreactive antigen domain containing 2"
                     /codon_start=1
                     /product="OCIA domain-containing protein 2 isoform 1"
                     /protein_id="NP_001014446.1"
                     /db_xref="CCDS:CCDS33981.1"
                     /db_xref="GeneID:132299"
                     /db_xref="HGNC:HGNC:28685"
                     /db_xref="MIM:619633"
                     /translation="MASASARGNQDKDAHFPPPSKQSLLFCPKSKLHIHRAEISKIMRE
                     CQEESFWKRALPFSLVSMLVTQGLVYQGYLAANSRFGSLPKVALAGLLGFGLGKVSYIG
                     VCQSKFHFFEDQLRGAGFGPQHNRHCLLTCEECKIKHGLSEKGDSQPSAS"
     misc_feature    180..245
                     /gene="OCIAD2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q56VL3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    300..302
                     /gene="OCIAD2"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q56VL3.1); acetylation site"
     regulatory      720..725
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OCIAD2"
                     /note="hexamer: AATAAA"
     polyA_site      746
                     /gene="OCIAD2"
                     /note="major polyA site"
ORIGIN
        1 gagacaggtg gggtactcgg gaagctggag cgggccggcg gtgcagtcac gggggagcga
       61 ggcctgctgg gcttggcaac gagggactcg gcctcggagg cgacccagac cacacagaca
      121 ctgggtcaag gagtaagcag aggataaaca actggaagga gagcaagcac aaagtcatca
      181 tggcttcagc gtctgctcgt ggaaaccaag ataaagatgc ccattttcca ccaccaagca
      241 agcagagcct gttgttttgt ccaaaatcaa aactgcacat ccacagagca gagatctcaa
      301 agattatgcg agaatgtcag gaagaaagtt tctggaagag agctctgcct ttttctcttg
      361 taagcatgct tgtcacccag ggactagtct accaaggtta tttggcagct aattctagat
      421 ttggatcatt gcccaaagtt gcacttgctg gtctcttggg atttggcctt ggaaaggtat
      481 catacatagg agtatgccag agtaaattcc atttttttga agatcagctc cgtggggctg
      541 gttttggtcc acagcataac aggcactgcc tccttacctg tgaggaatgc aaaataaagc
      601 atggattaag tgagaaggga gactctcagc cttcagcttc ctaaattctg tgtctgtgac
      661 tttcgaagtt ttttaaacct ctgaatttgt acacatttaa aatttcaagt gtactttaaa
      721 ataaaatact tctaatggaa caaaaacatt gtgtctgtca ctcactgaaa tgtattccgt
      781 ggaaggcttt caagtgaact aagcgttaca tgtttttctg ctctttaaga acatgtcggg
      841 gcatggcgca gtggctcatg cctgtaatcc cagtactttg ggaggccgag gcaggcagat
      901 catttgaggt caggagttca tgaccagctt ggccaacatg gtgaaacccc atctctgcta
      961 aaaatataaa aattagccag gcgtggtggc acatgcctgt aatcccagct actgagaggg
     1021 aggctgaggc aggagaatca cttgaaccca ggaggcgaaa gttgcagcga gcagagattg
     1081 tgccactgca ctccagcctg ggtgccaga
//
LOCUS       NM_001014447            2163 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.
ACCESSION   NM_001014447
VERSION     NM_001014447.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2163)
  AUTHORS   Garcia-Pardo J, Tanco S, Garcia-Guerrero MC, Dasgupta S, Aviles FX,
            Lorenzo J and Fricker LD.
  TITLE     Substrate Specificity and Structural Modeling of Human
            Carboxypeptidase Z: A Unique Protease with a Frizzled-Like Domain
  JOURNAL   Int J Mol Sci 21 (22), 8687 (2020)
   PUBMED   33217972
  REMARK    GeneRIF: Substrate Specificity and Structural Modeling of Human
            Carboxypeptidase Z: A Unique Protease with a Frizzled-Like Domain.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2163)
  AUTHORS   Tang J, Liu W, Zhu J, Zhang J, Wang FH, Liang JH, Zeng JH, Wang H,
            Xia H and He J.
  TITLE     RSRC1 and CPZ gene polymorphisms with neuroblastoma susceptibility
            in Chinese children
  JOURNAL   Gene 662, 83-87 (2018)
   PUBMED   29653227
  REMARK    GeneRIF: CPZ rs3796725 and rs3796727 were not associated with
            neuroblastoma risk in Chinese children..
REFERENCE   3  (bases 1 to 2163)
  AUTHORS   McDaniel LD, Conkrite KL, Chang X, Capasso M, Vaksman Z, Oldridge
            DA, Zachariou A, Horn M, Diamond M, Hou C, Iolascon A, Hakonarson H,
            Rahman N, Devoto M and Diskin SJ.
  TITLE     Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16
            associated with neuroblastoma
  JOURNAL   PLoS Genet 13 (5), e1006787 (2017)
   PUBMED   28545128
  REMARK    GeneRIF: Common variants within CPZ at 4p16 is associated with
            neuroblastoma. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2163)
  AUTHORS   Rual JF, Hirozane-Kishikawa T, Hao T, Bertin N, Li S, Dricot A, Li
            N, Rosenberg J, Lamesch P, Vidalain PO, Clingingsmith TR, Hartley
            JL, Esposito D, Cheo D, Moore T, Simmons B, Sequerra R, Bosak S,
            Doucette-Stamm L, Le Peuch C, Vandenhaute J, Cusick ME, Albala JS,
            Hill DE and Vidal M.
  TITLE     Human ORFeome version 1.1: a platform for reverse proteomics
  JOURNAL   Genome Res 14 (10B), 2128-2135 (2004)
   PUBMED   15489335
REFERENCE   5  (bases 1 to 2163)
  AUTHORS   Fan X, Olson SJ, Blevins LS, Allen GS and Johnson MD.
  TITLE     Immunohistochemical localization of carboxypeptidases D, E, and Z in
            pituitary adenomas and normal human pituitary
  JOURNAL   J Histochem Cytochem 50 (11), 1509-1516 (2002)
   PUBMED   12417617
REFERENCE   6  (bases 1 to 2163)
  AUTHORS   Reznik SE and Fricker LD.
  TITLE     Carboxypeptidases from A to z: implications in embryonic development
            and Wnt binding
  JOURNAL   Cell Mol Life Sci 58 (12-13), 1790-1804 (2001)
   PUBMED   11766880
  REMARK    Review article
REFERENCE   7  (bases 1 to 2163)
  AUTHORS   Novikova EG, Reznik SE, Varlamov O and Fricker LD.
  TITLE     Carboxypeptidase Z is present in the regulated secretory pathway and
            extracellular matrix in cultured cells and in human tissues
  JOURNAL   J Biol Chem 275 (7), 4865-4870 (2000)
   PUBMED   10671522
REFERENCE   8  (bases 1 to 2163)
  AUTHORS   Novikova EG and Fricker LD.
  TITLE     Purification and characterization of human metallocarboxypeptidase Z
  JOURNAL   Biochem Biophys Res Commun 256 (3), 564-568 (1999)
   PUBMED   10080937
REFERENCE   9  (bases 1 to 2163)
  AUTHORS   Song L and Fricker LD.
  TITLE     Cloning and expression of human carboxypeptidase Z, a novel
            metallocarboxypeptidase
  JOURNAL   J Biol Chem 272 (16), 10543-10550 (1997)
   PUBMED   9099699
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC080539.1, GQ891514.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000360986.9/ ENSP00000354255.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC105345.3, KF495771.2 and
            KF510872.1.
            On Nov 22, 2018 this sequence version replaced NM_001014447.2.
            Summary: This gene encodes a member of the metallocarboxypeptidase
            family. This enzyme displays carboxypeptidase activity towards
            substrates with basic C-terminal residues. It is most active at
            neutral pH and is inhibited by active site-directed inhibitors of
            metallocarboxypeptidases. Alternative splicing in the coding region
            results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longest protein
            (isoform 1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2163
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.1"
     gene            1..2163
                     /gene="CPZ"
                     /note="carboxypeptidase Z"
                     /db_xref="GeneID:8532"
                     /db_xref="HGNC:HGNC:2333"
                     /db_xref="MIM:603105"
     CDS             70..2028
                     /gene="CPZ"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; metallocarboxypeptidase Z; VEZT/CPZ fusion; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="carboxypeptidase Z isoform 1 precursor"
                     /protein_id="NP_001014447.2"
                     /db_xref="CCDS:CCDS33953.1"
                     /db_xref="GeneID:8532"
                     /db_xref="HGNC:HGNC:2333"
                     /db_xref="MIM:603105"
                     /translation="MPPPLPLLLLTVLVVAAARPGCEFERNPAGECHRPPAADSATCVD
                     LQLRTCSDAAYNHTTFPNLLQHRSWEVVEASSEYILLSVLHQLLEGQCNPDLRLLGCAV
                     LAPRCEGGWVRRPCRHICEGLREVCQPAFDAIDMAWPYFLDCHRYFTREDEGCYDPLEK
                     LRGGLEADEALPSGLPPTFIRFSHHSYAQMVRVLRRTASRCAHVARTYSIGRSFDGREL
                     LVIEFSSRPGQHELMEPEVKLIGNIHGNEVAGREMLIYLAQYLCSEYLLGNPRIQRLLN
                     TTRIHLLPSMNPDGYEVAAAEGAGYNGWTSGRQNAQNLDLNRNFPDLTSEYYRLAETRG
                     ARSDHIPIPQHYWWGKVAPETKAIMKWMQTIPFVLSASLHGGDLVVSYPFDFSKHPQEE
                     KMFSPTPDEKMFKLLSRAYADVHPMMMDRSENRCGGNFLKRGSIINGADWYSFTGGMSD
                     FNYLHTNCFEITVELGCVKFPPEEALYILWQHNKESLLNFVETVHRGIKGVVTDKFGKP
                     VKNARISVKGIRHDITTAPDGDYWRLLPPGIHIVIAQAPGYAKVIKKVIIPARMKRAGR
                     VDFILQPLGMGPKNFIHGLRRTGPHDPLGGASSLGEATEPDPLRARRQPSADGSKPWWW
                     SYFTSLSTHRPRWLLKY"
     sig_peptide     70..123
                     /gene="CPZ"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     124..2025
                     /gene="CPZ"
                     /product="carboxypeptidase Z isoform 1"
     misc_feature    910..912
                     /gene="CPZ"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q66K79.2); glycosylation site"
     misc_feature    1852..1956
                     /gene="CPZ"
                     /note="propagated from UniProtKB/Swiss-Prot (Q66K79.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2141..2146
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPZ"
                     /note="hexamer: ATTAAA"
     polyA_site      2163
                     /gene="CPZ"
                     /note="major polyA site"
ORIGIN
        1 agagccccgg ccccgcgcgg cccgagtgcc acatcactgc gctggccgtc caaggtccgc
       61 cgccccacca tgccgccccc gctgccgctg ctgctcctta cagtcctggt cgtcgccgct
      121 gcccggccgg ggtgcgagtt tgagcggaac cccgccggtg aatgccacag gccaccagct
      181 gcagacagcg ccacctgcgt ggacctgcag ctcaggacct gcagcgatgc cgcctacaac
      241 cacaccacct tccccaacct gcttcagcac cggtcgtggg aggtggtgga ggccagctcc
      301 gagtacatcc tgctgagcgt tctacaccag ctcctggaag gccagtgcaa cccggacctg
      361 cggctgctgg gctgtgctgt gctggccccc cggtgtgagg gcggctgggt gcgcagaccc
      421 tgccggcaca tctgcgaggg cctgcgggag gtctgccagc ccgccttcga cgccattgac
      481 atggcctggc cctacttcct tgactgccac cgctacttca cgagagagga cgagggctgc
      541 tatgacccgc tggagaagct tcggggaggc ctggaggctg acgaggcact gccctcaggg
      601 ctgccgccca ccttcatccg cttcagccac cactcctacg cccagatggt gcgtgtgctg
      661 aggcggacgg cctcccgctg cgcccacgtg gccaggacct acagcatcgg gcgcagcttc
      721 gacggcaggg agctgctggt catcgagttc tccagccgcc ccggccagca cgagctgatg
      781 gagcccgagg tgaagctcat cggcaacatt catggcaacg aggtggcggg ccgggagatg
      841 ctcatctacc tagcccagta cctgtgctct gagtacctgc ttggtaaccc ccgcatccag
      901 cgcctgctca acaccacccg catccacctg ctgccctcca tgaaccctga cggctatgag
      961 gtggcagctg ccgagggtgc cggctacaac gggtggacga gcgggaggca gaacgcgcag
     1021 aacctggatc tgaaccgaaa tttcccggac ctgacgtccg agtactaccg gctggcggag
     1081 acccgcggcg cacgcagcga ccacatcccc atcccccagc actactggtg gggtaaggtg
     1141 gccccggaga caaaggcaat catgaagtgg atgcagacca taccctttgt gctctcagcc
     1201 agccttcatg ggggcgacct ggtggtgtcc taccccttcg acttctccaa gcacccccag
     1261 gaggagaaga tgttttctcc cacgcccgac gagaagatgt tcaagctgct gtccagagcc
     1321 tacgctgacg tccaccccat gatgatggac aggtcggaga ataggtgtgg aggcaatttc
     1381 ctgaagaggg ggagcatcat caacggggcg gactggtaca gcttcacggg aggcatgtcc
     1441 gatttcaact acctgcacac caactgcttt gagatcacgg tagagctggg ctgtgtgaag
     1501 ttcccccccg aggaggccct gtacatactc tggcagcaca acaaggagtc actcctgaat
     1561 ttcgtggaga cggtgcaccg gggcatcaaa ggtgtggtga cagataaatt cggcaagcca
     1621 gtcaaaaacg cccggatctc agtcaaaggc attcgccacg acatcaccac agccccagat
     1681 ggtgactact ggagactgct gcccccaggt atccacattg tcattgccca agcccctggc
     1741 tacgccaaag tcatcaagaa agtcatcatc cccgcccgga tgaagagggc tggccgtgtg
     1801 gacttcattc tgcaacctct ggggatggga cccaagaact ttattcatgg gctgcggagg
     1861 actgggcccc acgacccact gggaggtgcc agctctttgg gggaggccac ggagcccgac
     1921 ccgctccggg cgcgcaggca gccctcggcc gacgggagta agccctggtg gtggtcctac
     1981 ttcacatcgc tgagcaccca caggccacgc tggctgctca agtactagcc ccggccccag
     2041 cacccgccag gatgtggaga ccgaggccca tctccgcatc ccgggctcct ggctcttgat
     2101 tttgtctgcc acagacatcc cacaaagccg ctgccatttt attaaagtgt tttgatccac
     2161 ttt
//
LOCUS       NM_001014450             675 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens small proline rich protein 2F (SPRR2F), transcript
            variant 1, mRNA.
ACCESSION   NM_001014450
VERSION     NM_001014450.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 675)
  AUTHORS   Wang Y, Anderson EP and Tatakis DN.
  TITLE     Whole transcriptome analysis of smoker palatal mucosa identifies
            multiple downregulated innate immunity genes
  JOURNAL   J Periodontol 91 (6), 756-766 (2020)
   PUBMED   31682009
  REMARK    GeneRIF: SPRR2F expression is significantly downregulated in healthy
            palatal mucosa of smokers
REFERENCE   2  (bases 1 to 675)
  AUTHORS   Kainu K, Kivinen K, Zucchelli M, Suomela S, Kere J, Inerot A, Baker
            BS, Powles AV, Fry L, Samuelsson L and Saarialho-Kere U.
  TITLE     Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on
            1q shows heterogeneity between Finnish, Swedish and Irish families
  JOURNAL   Exp Dermatol 18 (2), 109-115 (2009)
   PUBMED   18643845
  REMARK    GeneRIF: Association of psoriasis to PGLYRP and SPRR genes at PSORS4
            locus on 1q shows heterogeneity between Finnish, Swedish and Irish
            families.
REFERENCE   3  (bases 1 to 675)
  AUTHORS   Hong SH, Nah HY, Lee JY, Lee YJ, Lee JW, Gye MC, Kim CH, Kang BM and
            Kim MK.
  TITLE     Estrogen regulates the expression of the small proline-rich 2 gene
            family in the mouse uterus
  JOURNAL   Mol Cells 17 (3), 477-484 (2004)
   PUBMED   15232223
REFERENCE   4  (bases 1 to 675)
  AUTHORS   Cabral A, Voskamp P, Cleton-Jansen AM, South A, Nizetic D and
            Backendorf C.
  TITLE     Structural organization and regulation of the small proline-rich
            family of cornified envelope precursors suggest a role in adaptive
            barrier function
  JOURNAL   J Biol Chem 276 (22), 19231-19237 (2001)
   PUBMED   11279051
REFERENCE   5  (bases 1 to 675)
  AUTHORS   Song HJ, Poy G, Darwiche N, Lichti U, Kuroki T, Steinert PM and
            Kartasova T.
  TITLE     Mouse Sprr2 genes: a clustered family of genes showing differential
            expression in epithelial tissues
  JOURNAL   Genomics 55 (1), 28-42 (1999)
   PUBMED   9888996
REFERENCE   6  (bases 1 to 675)
  AUTHORS   Davodeau F, Houde I, Boulot G, Romagne F, Necker A, Canavo N, Peyrat
            MA, Hallet MM, Vie H, Jacques Y et al.
  TITLE     Secretion of disulfide-linked human T-cell receptor gamma delta
            heterodimers
  JOURNAL   J Biol Chem 268 (21), 15455-15460 (1993)
   PUBMED   8340374
REFERENCE   7  (bases 1 to 675)
  AUTHORS   Gibbs S, Fijneman R, Wiegant J, van Kessel AG, van De Putte P and
            Backendorf C.
  TITLE     Molecular characterization and evolution of the SPRR family of
            keratinocyte differentiation markers encoding small proline-rich
            proteins
  JOURNAL   Genomics 16 (3), 630-637 (1993)
   PUBMED   8325635
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279873.4562.1, ERR279829.4815.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000468739.2/ ENSP00000418193.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL139417.9, AF333956.1 and AI051688.1.
            On Nov 23, 2018 this sequence version replaced NM_001014450.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..675
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..675
                     /gene="SPRR2F"
                     /note="small proline rich protein 2F"
                     /db_xref="GeneID:6705"
                     /db_xref="HGNC:HGNC:11266"
                     /db_xref="MIM:617589"
     misc_feature    48..50
                     /gene="SPRR2F"
                     /note="upstream in-frame stop codon"
     CDS             63..281
                     /gene="SPRR2F"
                     /note="SPR-2F"
                     /codon_start=1
                     /product="small proline-rich protein 2F"
                     /protein_id="NP_001014450.1"
                     /db_xref="CCDS:CCDS30867.1"
                     /db_xref="GeneID:6705"
                     /db_xref="HGNC:HGNC:11266"
                     /db_xref="MIM:617589"
                     /translation="MSYQQQQCKQPCQPPPVCPAPKCPEPCPPPKCPEPCPPSKCPQSC
                     PPQQCQQKCPPVTPSPPCQPKCPPKSK"
     misc_feature    123..203
                     /gene="SPRR2F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RM1.1);
                     Region: 3 X 9 AA tandem repeats of
                     [PS]-K-C-P-[EQ]-[PS]-C-P-P"
     misc_feature    219..278
                     /gene="SPRR2F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RM1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      655..660
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPRR2F"
                     /note="hexamer: AATAAA"
     polyA_site      675
                     /gene="SPRR2F"
                     /note="major polyA site"
ORIGIN
        1 taaactcctg gtacctaagc accgatctgc cttggagaac ctgattctga gactccagca
       61 ggatgtctta tcaacagcag cagtgcaagc agccctgcca gccacctcct gtgtgccccg
      121 cgccaaagtg cccagagcca tgtccacccc cgaagtgccc tgagccctgc ccaccatcaa
      181 agtgtccaca gtcctgccca cctcagcagt gccagcagaa atgtcctcct gtgacacctt
      241 ccccaccctg ccagccaaag tgtccaccca agagcaagta acagcttcag gattcatcag
      301 gagcatgaaa ggataaggat aattggctca cctcgttcca cagctccacc tgcatcttct
      361 catcaaagcc atccagggat acacagggag cttctttcct cttagcctgt gatcggcctg
      421 tgatgatctc tgatagcaaa aggttttctt tttgaggctg ccatactgcc actgtccagg
      481 tggagactga gcaaaggaag tcctgggctg tgccagctcc cagagcttca gaagaaagag
      541 cagctctctc cctgggaacc attagagaat tctgttgatg ttttctgtgt ctgtctgtcc
      601 cctgggcatg agcttccacc acctgtgcag ttgtcacttt cctttcactc cctgaataaa
      661 gaatctatgc atata
//
LOCUS       NM_001014809            3174 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens collapsin response mediator protein 1 (CRMP1),
            transcript variant 1, mRNA.
ACCESSION   NM_001014809
VERSION     NM_001014809.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3174)
  AUTHORS   Ravindran E, Arashiki N, Becker LL, Takizawa K, Levy J, Rambaud T,
            Makridis KL, Goshima Y, Li N, Vreeburg M, Demeer B, Dickmanns A,
            Stegmann APA, Hu H, Nakamura F and Kaindl AM.
  TITLE     Monoallelic CRMP1 gene variants cause neurodevelopmental disorder
  JOURNAL   Elife 11, e80793 (2022)
   PUBMED   36511780
  REMARK    GeneRIF: Monoallelic CRMP1 gene variants cause neurodevelopmental
            disorder. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3174)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 3174)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3174)
  AUTHORS   Huang L, Li Y, Wang C, Li N, Hou Y, Chang R, Sun M, Wang R, Zhu L
            and Qiao C.
  TITLE     Overexpression of Collapsin Response Mediator Protein 1 Inhibits
            Human Trophoblast Cells Proliferation, Migration, and Invasion
  JOURNAL   Reprod Sci 26 (7), 954-960 (2019)
   PUBMED   30466368
  REMARK    GeneRIF: CRMP-1 might have implications for the pathogenesis of
            preeclampsia by regulating the biological behavior of trophoblast
            cells.
REFERENCE   5  (bases 1 to 3174)
  AUTHORS   McLean CK, Narayan S, Lin SY, Rai N, Chung Y, Hipolito MS, Cascella
            NG, Nurnberger JI Jr, Ishizuka K, Sawa AS and Nwulia EA.
  TITLE     Lithium-associated transcriptional regulation of CRMP1 in
            patient-derived olfactory neurons and symptom changes in bipolar
            disorder
  JOURNAL   Transl Psychiatry 8 (1), 81 (2018)
   PUBMED   29666369
  REMARK    GeneRIF: Study provides a novel insight into the relevance of
            collapsin response mediator protein 1, a key molecule in
            semaphorin-3A signaling during neurodevelopment, in the molecular
            mechanism of action of lithium, and in the pathophysiology of
            bipolar disorder. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3174)
  AUTHORS   Shih JY, Lee YC, Yang SC, Hong TM, Huang CY and Yang PC.
  TITLE     Collapsin response mediator protein-1: a novel invasion-suppressor
            gene
  JOURNAL   Clin Exp Metastasis 20 (1), 69-76 (2003)
   PUBMED   12650609
  REMARK    GeneRIF: Collapsin response mediator protein-1: a novel
            invasion-suppressor gene. Review article
REFERENCE   7  (bases 1 to 3174)
  AUTHORS   Leung T, Ng Y, Cheong A, Ng CH, Tan I, Hall C and Lim L.
  TITLE     p80 ROKalpha binding protein is a novel splice variant of CRMP-1
            which associates with CRMP-2 and modulates RhoA-induced neuronal
            morphology
  JOURNAL   FEBS Lett 532 (3), 445-449 (2002)
   PUBMED   12482610
  REMARK    GeneRIF: CRMP-1 and CRMP-2 have a role in RhoA-dependent signaling,
            through interaction with and regulation of ROKalpha
REFERENCE   8  (bases 1 to 3174)
  AUTHORS   Shih JY, Yang SC, Hong TM, Yuan A, Chen JJ, Yu CJ, Chang YL, Lee YC,
            Peck K, Wu CW and Yang PC.
  TITLE     Collapsin response mediator protein-1 and the invasion and
            metastasis of cancer cells
  JOURNAL   J Natl Cancer Inst 93 (18), 1392-1400 (2001)
   PUBMED   11562390
REFERENCE   9  (bases 1 to 3174)
  AUTHORS   Torres R and Polymeropoulos MH.
  TITLE     Genomic organization and localization of the human CRMP-1 gene
  JOURNAL   DNA Res 5 (6), 393-395 (1998)
   PUBMED   10048489
REFERENCE   10  (bases 1 to 3174)
  AUTHORS   Hamajima N, Matsuda K, Sakata S, Tamaki N, Sasaki M and Nonaka M.
  TITLE     A novel gene family defined by human dihydropyrimidinase and three
            related proteins with differential tissue distribution
  JOURNAL   Gene 180 (1-2), 157-163 (1996)
   PUBMED   8973361
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK094725.1, SRR1803612.258146.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000324989.12/ ENSP00000321606.7
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC105915.5, DB498528.1,
            AK094725.1 and BC007898.2.
            On May 17, 2019 this sequence version replaced NM_001014809.2.
            Summary: This gene encodes a member of a family of cytosolic
            phosphoproteins expressed exclusively in the nervous system. The
            encoded protein is thought to be a part of the semaphorin signal
            transduction pathway implicated in semaphorin-induced growth cone
            collapse during neural development. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longest protein
            (isoform 1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3174
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.2"
     gene            1..3174
                     /gene="CRMP1"
                     /gene_synonym="CRMP-1; DPYSL1; DRP-1; DRP1; ULIP-3"
                     /note="collapsin response mediator protein 1"
                     /db_xref="GeneID:1400"
                     /db_xref="HGNC:HGNC:2365"
                     /db_xref="MIM:602462"
     CDS             118..2178
                     /gene="CRMP1"
                     /gene_synonym="CRMP-1; DPYSL1; DRP-1; DRP1; ULIP-3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dihydropyrimidinase-like 1; dihydropyrimidinase-related
                     protein 1; unc-33-like phosphoprotein 3; inactive
                     dihydropyrimidinase"
                     /codon_start=1
                     /product="dihydropyrimidinase-related protein 1 isoform 1"
                     /protein_id="NP_001014809.1"
                     /db_xref="CCDS:CCDS33950.1"
                     /db_xref="GeneID:1400"
                     /db_xref="HGNC:HGNC:2365"
                     /db_xref="MIM:602462"
                     /translation="MADRRRAWNTEDDLPVYLARPGSAAQTPRQKYGGMFAAVEGAYEN
                     KTIDFDAYSVGRRGSARTPRSAGRPDAVGLPGPGGSEDTASDVSEPSGSAVSSPGERDE
                     RPPTLRIRRPAPRDLPLGRDNGQSDRLLIKGGRIINDDQSLYADVYLEDGLIKQIGENL
                     IVPGGVKTIEANGRMVIPGGIDVNTYLQKPSQGMTAADDFFQGTRAALVGGTTMIIDHV
                     VPEPGSSLLTSFEKWHEAADTKSCCDYSLHVDITSWYDGVREELEVLVQDKGVNSFQVY
                     MAYKDVYQMSDSQLYEAFTFLKGLGAVILVHAENGDLIAQEQKRILEMGITGPEGHALS
                     RPEELEAEAVFRAITIAGRINCPVYITKVMSKSAADIIALARKKGPLVFGEPIAASLGT
                     DGTHYWSKNWAKAAAFVTSPPLSPDPTTPDYLTSLLACGDLQVTGSGHCPYSTAQKAVG
                     KDNFTLIPEGVNGIEERMTVVWDKAVATGKMDENQFVAVTSTNAAKIFNLYPRKGRIAV
                     GSDADVVIWDPDKLKTITAKSHKSAVEYNIFEGMECHGSPLVVISQGKIVFEDGNINVN
                     KGMGRFIPRKAFPEHLYQRVKIRNKVFGLQGVSRGMYDGPVYEVPATPKYATPAPSAKS
                     SPSKHQPPPIRNLHQSNFSLSGAQIDDNNPRRTGHRIVAPPGGRSNITSLG"
     polyA_site      3124
                     /gene="CRMP1"
                     /gene_synonym="CRMP-1; DPYSL1; DRP-1; DRP1; ULIP-3"
                     /note="major polyA site"
     regulatory      3139..3144
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRMP1"
                     /gene_synonym="CRMP-1; DPYSL1; DRP-1; DRP1; ULIP-3"
                     /note="hexamer: AATGAA"
     polyA_site      3174
                     /gene="CRMP1"
                     /gene_synonym="CRMP-1; DPYSL1; DRP-1; DRP1; ULIP-3"
                     /note="major polyA site"
ORIGIN
        1 gcagtcgcgc ccgggccgcc gcaggcccgc accgaggcgc ggagcgcggc gcacggcggt
       61 gcccagggcc gcgggcgggc aggcgggagc gcggtgggtg gccggccttg gacgggtatg
      121 gcggaccggc ggcgcgcgtg gaacaccgag gacgacctgc ccgtgtacct ggcgcggccg
      181 ggcagcgcgg cgcagacccc gcgccagaag tacggcggca tgttcgccgc ggtggagggc
      241 gcctacgaga acaagaccat cgacttcgac gcctacagtg tgggccgccg cggctcggcg
      301 cgcacgccgc gcagcgctgg ccggcccgac gcggtcgggc tgccagggcc gggaggcagc
      361 gaggacacgg ccagcgacgt gagcgagccc tcgggctccg cggtcagctc tcccggagag
      421 cgcgacgagc ggccgccgac gctgcgcatc cgccgccccg cgccccgcga cctgcccctc
      481 ggccgggaca atggccagag tgaccgactc ctcatcaaag gtggacggat catcaacgat
      541 gaccaatccc tttatgctga cgtctacctg gaggatggac ttatcaaaca aataggagag
      601 aacttaatcg ttcctggtgg agtgaagacc attgaagcca acgggcggat ggttattccc
      661 ggaggtattg atgtcaacac gtacctgcag aagccctccc aggggatgac tgcggctgat
      721 gacttcttcc aagggaccag ggcggcactg gtgggcggga ccacgatgat cattgaccat
      781 gttgttcctg aacctgggtc cagcctactg acctctttcg agaagtggca cgaagcagct
      841 gacaccaaat cctgctgtga ttactccctc cacgtggaca tcacaagctg gtacgatggc
      901 gttcgggagg agctggaggt gctggtgcag gacaaaggcg tcaattcctt ccaagtctac
      961 atggcctata aggatgtcta ccaaatgtcc gacagccagc tctatgaagc ctttaccttc
     1021 cttaagggcc tgggagctgt gatcttggtc catgcagaaa atggagattt gatagctcag
     1081 gaacaaaagc ggatcctgga gatgggcatc acgggtcccg agggccatgc cctgagcaga
     1141 cctgaagagc tggaggccga ggcggtgttc cgggccatca ccattgcggg ccggatcaac
     1201 tgccctgtgt acatcaccaa ggtcatgagc aagagtgcag ccgacatcat cgctctggcc
     1261 aggaagaaag ggcccctagt ttttggagag cccattgccg ccagcctggg gaccgatggc
     1321 acccattact ggagcaagaa ctgggccaag gctgcggcgt tcgtgacttc ccctcccctg
     1381 agcccggacc ctaccacgcc cgactacttg acctccctac tggcctgtgg ggacttgcag
     1441 gtcacaggca gcggccactg tccctacagc actgcccaga aggcggtggg caaggacaac
     1501 tttaccctga tccccgaggg tgtcaacggg atagaggagc ggatgacggt cgtctgggac
     1561 aaggcggtgg ctactggcaa aatggatgag aaccagtttg tcgctgtcac cagcaccaat
     1621 gcagccaaga tctttaacct gtacccaagg aaagggcgga ttgccgtggg ctcggatgcc
     1681 gacgtggtca tctgggaccc cgacaagttg aagaccataa cagccaaaag tcacaagtcg
     1741 gcggtggagt acaacatctt cgagggtatg gagtgccacg gctccccact agtggtcatc
     1801 agccagggca agatcgtctt tgaagacgga aacatcaacg tcaacaaggg catgggccgc
     1861 ttcattccgc ggaaggcgtt cccggagcac ctgtaccagc gcgtcaaaat caggaataag
     1921 gtttttggat tgcaaggggt ttccaggggc atgtatgacg gtcctgtgta cgaggtacca
     1981 gctacaccca aatatgcaac tcccgctcct tcagccaaat cttcgccttc taaacaccag
     2041 cccccaccca tcagaaacct ccaccagtcc aacttcagct tatcaggtgc ccagatagat
     2101 gacaacaatc ccaggcgcac cggccaccgc atcgtggcgc cccctggtgg ccgctccaac
     2161 atcaccagcc tcggttgaac gtggatgcgc ggaggagcta gcctgaagga ttctgggaat
     2221 catgtccatc ccttttcctg tcagtgtttt tgaaacccac agttttagtt ggtgctgatg
     2281 gagggagggg gaagtcgaag gatgctcttt cccttttctg tttaggaaga agtggtacta
     2341 gtgtggtgtg tttgcttgga aattccttgc cccacagttg tgttcatgct gaatccacct
     2401 cggagcatgg tgttttcatt cccccttcct agtgaaccac aggttttagc attgtcttgt
     2461 tctgtccctt ccacttctaa ctccactggc tccatgattc tctgagtggt ggttcctttg
     2521 caccctgtag atgttctagg atagttgatg catgttacta aattacgtat gcaagtctgt
     2581 gagtgcgtct gaggggacat cgccaaggac tgactgagac acgatgccga gacctcaagc
     2641 cctgaggggc agtcccaaaa cccttacagt gaagatgttt actcattgcc cccacctctg
     2701 gtccacacta gaaagaagct cgccccacct ccacctgtga gatccgtgaa ttctcggaat
     2761 ggcaggggaa gccttgcact aggttgcaga gaagcatcct ccacatcctg tgtcagaaac
     2821 cctggtctcc gtggcacttg taactcaccg tgctgtcttc tggtctgtgt gtgttcttca
     2881 agccagctct aggcttcagg ccgagccagg ttcacactca gaaagaggtc tccccatccc
     2941 cattcggggc tgacgatggg gggctgatgg ctgcccctgc gtggcctgag tcctggtccc
     3001 tctgaggcag ttgacggggc agtcagattt ttaaagtttt gtacaaagtt ttcctttgta
     3061 atcactccca tttttactta acaaccaact tgttgtggct cttatttctg aattcaaagc
     3121 ttgtgaaaaa ataaagaaaa tgaactgccc actgacctga ctagggcact ttca
//
LOCUS       NM_001014840             855 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens cutA divalent cation tolerance homolog (CUTA),
            transcript variant 5, mRNA.
ACCESSION   NM_001014840
VERSION     NM_001014840.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 855)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 855)
  AUTHORS   Hou P, Liu G, Zhao Y, Shi Z, Zheng Q, Bu G, Xu H and Zhang YW.
  TITLE     Role of copper and the copper-related protein CUTA in mediating APP
            processing and Abeta generation
  JOURNAL   Neurobiol Aging 36 (3), 1310-1315 (2015)
   PUBMED   25557959
  REMARK    GeneRIF: It mediates APP processing and Abeta generation.
REFERENCE   3  (bases 1 to 855)
  AUTHORS   Bagautdinov B, Matsuura Y, Yamamoto H, Sawano M, Ogasahara K,
            Takehira M, Kunishima N, Katoh E and Yutani K.
  TITLE     Thermodynamic analysis of unusually thermostable CutA1 protein from
            human brain and its protease susceptibility
  JOURNAL   J Biochem 157 (3), 169-176 (2015)
   PUBMED   25344844
  REMARK    GeneRIF: Human CutA1 exhibits remarkably high thermodynamic
            stability at body temperature should be important for its protein
            catabolism in the human cells.
REFERENCE   4  (bases 1 to 855)
  AUTHORS   Zhao Y, Wang Y, Hu J, Zhang X and Zhang YW.
  TITLE     CutA divalent cation tolerance homolog (Escherichia coli) (CUTA)
            regulates beta-cleavage of beta-amyloid precursor protein (APP)
            through interacting with beta-site APP cleaving protein 1 (BACE1)
  JOURNAL   J Biol Chem 287 (14), 11141-11150 (2012)
   PUBMED   22351782
  REMARK    GeneRIF: H component of CUTA as a novel BACE1-interacting protein
            that mediates the intracellular trafficking of BACE1 and the
            processing of APP to Abeta
REFERENCE   5  (bases 1 to 855)
  AUTHORS   Miyamoto-Sato E, Fujimori S, Ishizaka M, Hirai N, Masuoka K, Saito
            R, Ozawa Y, Hino K, Washio T, Tomita M, Yamashita T, Oshikubo T,
            Akasaka H, Sugiyama J, Matsumoto Y and Yanagawa H.
  TITLE     A comprehensive resource of interacting protein regions for refining
            human transcription factor networks
  JOURNAL   PLoS One 5 (2), e9289 (2010)
   PUBMED   20195357
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 855)
  AUTHORS   Yang J, Yang H, Yan L, Yang L and Yu L.
  TITLE     Characterization of the human CUTA isoform2 present in the stably
            transfected HeLa cells
  JOURNAL   Mol Biol Rep 36 (1), 63-69 (2009)
   PUBMED   17924204
  REMARK    GeneRIF: expression profile of CUTA gene in tissues was examined &
            revealed CUTA gene was constitutively expressed in the 18 tissues
            tested; CUTA isoform2 was mainly located in mitochondria as a new
            potential mitochondrial protein
REFERENCE   7  (bases 1 to 855)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   8  (bases 1 to 855)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   9  (bases 1 to 855)
  AUTHORS   Perrier AL, Cousin X, Boschetti N, Haas R, Chatel JM, Bon S, Roberts
            WL, Pickett SR, Massoulie J, Rosenberry TL and Krejci E.
  TITLE     Two distinct proteins are associated with tetrameric
            acetylcholinesterase on the cell surface
  JOURNAL   J Biol Chem 275 (44), 34260-34265 (2000)
   PUBMED   10954708
REFERENCE   10  (bases 1 to 855)
  AUTHORS   Navaratnam DS, Fernando FS, Priddle JD, Giles K, Clegg SM, Pappin
            DJ, Craig I and Smith AD.
  TITLE     Hydrophobic protein that copurifies with human brain
            acetylcholinesterase: amino acid sequence, genomic organization, and
            chromosomal localization
  JOURNAL   J Neurochem 74 (5), 2146-2153 (2000)
   PUBMED   10800960
  REMARK    GeneRIF: Fluorescence in situ hybridization localizes the gene to
            chromosome 6p21.32-p21.2.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.262394.1,
            SRR7410570.262432.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000488034.6/ ENSP00000417544.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CN363642.1, CB106834.1, AF106943.1 and AL662799.16.
            On Jun 2, 2019 this sequence version replaced NM_001014840.1.
            Transcript Variant: This variant (5) uses an alternate splice site
            in the 5' coding region, compared to variant 1, resulting in a
            shorter protein (isoform 3). Isoform 3 has also been called isoform
            b.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..855
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.32"
     gene            1..855
                     /gene="CUTA"
                     /gene_synonym="ACHAP; C6orf82"
                     /note="cutA divalent cation tolerance homolog"
                     /db_xref="GeneID:51596"
                     /db_xref="HGNC:HGNC:21101"
                     /db_xref="MIM:616953"
     misc_feature    75..77
                     /gene="CUTA"
                     /gene_synonym="ACHAP; C6orf82"
                     /note="upstream in-frame stop codon"
     CDS             108..647
                     /gene="CUTA"
                     /gene_synonym="ACHAP; C6orf82"
                     /note="isoform 3 precursor is encoded by transcript variant
                     5; divalent cation tolerant protein CUTA; protein CutA;
                     acetylcholinesterase-associated protein; brain
                     acetylcholinesterase putative membrane anchor"
                     /codon_start=1
                     /product="protein CutA isoform 3 precursor"
                     /protein_id="NP_001014840.1"
                     /db_xref="CCDS:CCDS34433.1"
                     /db_xref="GeneID:51596"
                     /db_xref="HGNC:HGNC:21101"
                     /db_xref="MIM:616953"
                     /translation="MSGGRAPAVLLGGVASLLLSFVWMPALLPVASRLLLLPRVLLTMA
                     SGSPPTQPSPASDSGSGYVPGSVSAAFVTCPNEKVAKEIARAVVEKRLAACVNLIPQIT
                     SIYEWKGKIEEDSEVLMMIKTQSSLVPALTDFVRSVHPYEVAEVIALPVEQGNFPYLQW
                     VRQVTESVSDSITVLP"
     sig_peptide     108..203
                     /gene="CUTA"
                     /gene_synonym="ACHAP; C6orf82"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O60888.2)"
     misc_feature    609..635
                     /gene="CUTA"
                     /gene_synonym="ACHAP; C6orf82"
                     /note="propagated from UniProtKB/Swiss-Prot (O60888.2);
                     Region: O-glycosylated at one site"
     regulatory      727..732
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CUTA"
                     /gene_synonym="ACHAP; C6orf82"
                     /note="hexamer: AATAAA"
     polyA_site      747
                     /gene="CUTA"
                     /gene_synonym="ACHAP; C6orf82"
                     /note="major polyA site"
     regulatory      796..801
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CUTA"
                     /gene_synonym="ACHAP; C6orf82"
                     /note="hexamer: AATATA"
     polyA_site      820
                     /gene="CUTA"
                     /gene_synonym="ACHAP; C6orf82"
     polyA_site      855
                     /gene="CUTA"
                     /gene_synonym="ACHAP; C6orf82"
ORIGIN
        1 aatcacgtgg ctgccaccca ggtaagaaga ggccgctctt cctggggttg tttctccgtg
       61 tgacgtgtgg cctttgagat caactctcct gtaccagcgt aggccgcatg agtggggggc
      121 gggctcccgc ggtcctgctc ggcggagtgg cctctctgct cctgtctttt gtttggatgc
      181 cggcgctgct gcctgtggcc tcccgccttt tgttgctacc ccgagtcttg ctgaccatgg
      241 cctctggaag ccctccgacc cagccctcgc cggcctcgga ttccggctct ggctacgttc
      301 cgggctcggt ctctgcagcc tttgttactt gccccaacga gaaggtcgcc aaggagatcg
      361 ccagggccgt ggtggagaag cgcctagcag cctgcgtcaa cctcatccct cagattacat
      421 ccatctatga gtggaaaggg aagatcgagg aagacagtga ggtgctgatg atgattaaaa
      481 cccaaagttc cttggtccca gctttgacag attttgttcg ttctgtgcac ccttacgaag
      541 tggccgaggt aattgcattg cctgtggaac aggggaactt tccgtacctg cagtgggtgc
      601 gccaggtcac agagtcagtt tctgactcta tcacagtcct gccatgatga gccctgttcc
      661 tgctcatcat gaagatcccc gcgatacttc aacgccttct gacttccagg tgatgactgg
      721 gcccccaata aatcccgtct ttgggtctct ctgccttttg cctgtttttt gtcatgtatg
      781 caaatttgtt gggagaatat aagtgcttct agtccctgta ttctctacat ctttcagaat
      841 gactcagagc tgcta
//
LOCUS       NM_001014979            1363 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens cilia and flagella associated protein 119 (CFAP119),
            transcript variant 1, mRNA.
ACCESSION   NM_001014979
VERSION     NM_001014979.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1363)
  AUTHORS   Iso-Touru T, Wurmser C, Venhoranta H, Hiltpold M, Savolainen T,
            Sironen A, Fischer K, Flisikowski K, Fries R, Vicente-Carrillo A,
            Alvarez-Rodriguez M, Nagy S, Mutikainen M, Peippo J, Taponen J,
            Sahana G, Guldbrandtsen B, Simonen H, Rodriguez-Martinez H,
            Andersson M and Pausch H.
  TITLE     A splice donor variant in CCDC189 is associated with asthenospermia
            in Nordic Red dairy cattle
  JOURNAL   BMC Genomics 20 (1), 286 (2019)
   PUBMED   30975085
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC128129.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148874
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000543610.6/ ENSP00000437532.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC092491.1, BC128129.1 and BC063391.1.
            On Nov 22, 2018 this sequence version replaced NM_001014979.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1363
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..1363
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /note="cilia and flagella associated protein 119"
                     /db_xref="GeneID:90835"
                     /db_xref="HGNC:HGNC:28078"
                     /db_xref="MIM:618318"
     misc_feature    234..236
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /note="upstream in-frame stop codon"
     CDS             315..1310
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 189; coiled-coil
                     domain containing 189; spergen-4"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 119
                     isoform 1"
                     /protein_id="NP_001014979.2"
                     /db_xref="CCDS:CCDS32434.2"
                     /db_xref="GeneID:90835"
                     /db_xref="HGNC:HGNC:28078"
                     /db_xref="MIM:618318"
                     /translation="MLNRKTSHFLGMRVQSELEHLSELRREAGKDRSSVHGSAARTRAS
                     VRTQWTTAAAAKADEDPGANLFPPPLPRPRICMWKYLDVHSMHQLEKTTNAEMREVLAE
                     LLELGCPEQSLRDAITLDLFCHALIFCRQQGFSLEQTSAACALLQDLHKACIATPLGNV
                     EECYRYFTSVLFCHGVRRPPFSIDLFKEEQLLALEDYVVNTYFRHFKLYKYVFTPQVRL
                     DLSLTYMGLQPPKLWPESETEKEESKEMEEQAVTPQKEELETVAPPEPEPSHIHVLRAY
                     IKTQVNKELEQLQGLVEERLKASEERLSSKLTALERPFQLPPGKGKSKTK"
     misc_feature    414..416
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6NZQ0; propagated from
                     UniProtKB/Swiss-Prot (A1A4V9.1); phosphorylation site"
     misc_feature    1020..1127
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A4V9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1239..1307
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /note="propagated from UniProtKB/Swiss-Prot (A1A4V9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1328..1333
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /note="hexamer: AATAAA"
     polyA_site      1363
                     /gene="CFAP119"
                     /gene_synonym="C16orf93; CCDC189"
                     /note="major polyA site"
ORIGIN
        1 gtattagcaa cctggaagag agggcgccca ggtgggcact cgcaacttct cacgtatctg
       61 cgcgttctct tcgctcccac tggcgtgagc ctgcgctttc cgccttcctt ccctcacaag
      121 cccccttggc aaccgtcgcc gttgagacgg agggagacgc ccccacggat tcgccccgcc
      181 gcgcctctcc gcgcgtagat tggccggagc gaggcgaacg ggcccggcct tggtagccgc
      241 cgaccgagcg ctggctgtcc tggaacctag gcggcgggag cccggggcgc ctcgcggcac
      301 ggaagagcgg cgagatgctc aaccgcaaga ccagccactt tttgggaatg agggtgcagt
      361 cggagcttga acatctctcc gagctgcggc gggaagcggg gaaggatcgc agctcagtgc
      421 atgggtcggc cgcgcggacg cgtgcgagtg tgcggactca gtggacgacg gcggcggcgg
      481 cgaaagcgga tgaagacccc ggagccaact tgtttccgcc gccgctgccc cgaccccgga
      541 tctgcatgtg gaagtacctg gacgtccatt ccatgcacca gctggagaag accaccaatg
      601 ctgagatgag ggaggtgctg gctgagctgc tggagctagg gtgtcctgag cagagcctga
      661 gggacgccat caccctggac ctcttctgcc acgcgctcat tttctgccgc cagcagggct
      721 tctcactgga gcagacgtca gcggcttgtg ccctgctcca ggatcttcac aaggcttgta
      781 ttgcaacccc cttgggcaac gtggaggagt gctaccgcta cttcaccagt gtcctttttt
      841 gccatggagt caggcggcct cctttcagca tcgacctctt caaagaggaa cagctgctgg
      901 ccttggaaga ctacgtggtc aacacttact tccgccactt caagctctat aaatacgtct
      961 tcacacccca ggtgcggctg gatctgtctt tgacttacat ggggctacag ccacccaaac
     1021 tgtggccaga gagtgagacg gagaaagaag aaagcaagga gatggaggag caggcagtta
     1081 ccccgcagaa agaggaacta gagacagtgg ccccaccaga gccagagcca agccacatcc
     1141 acgtcctccg agcctacatc aagacccaag tgaacaaaga gctggagcag ctccaggggc
     1201 tggtggagga gcggctcaag gccagcgagg aaaggctcag cagcaagttg actgcactag
     1261 agcggccctt ccagctacct ccgggtaaag gcaagagcaa gaccaagtga cccccaacat
     1321 tttccccaat aaaggtctgg gccagaatgg caccatccct gca
//
LOCUS       NM_001014980            1036 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens C1q and TNF related 12 (C1QTNF12), mRNA.
ACCESSION   NM_001014980
VERSION     NM_001014980.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1036)
  AUTHORS   Nadimi Shahraki Z, Azimi H, Ilchi N, Rohani Borj M, Pourghadamyari
            H, Mosallanejad S, Abbaszadeh-Goudarzi K and Sahebkar A.
  TITLE     Circulating C1q/TNF-related protein-12 levels are associated with
            the severity of coronary artery disease
  JOURNAL   Cytokine 144, 155545 (2021)
   PUBMED   33965313
  REMARK    GeneRIF: Circulating C1q/TNF-related protein-12 levels are
            associated with the severity of coronary artery disease.
REFERENCE   2  (bases 1 to 1036)
  AUTHORS   Wang G, Chen JJ, Deng WY, Ren K, Yin SH and Yu XH.
  TITLE     CTRP12 ameliorates atherosclerosis by promoting cholesterol efflux
            and inhibiting inflammatory response via the miR-155-5p/LXRalpha
            pathway
  JOURNAL   Cell Death Dis 12 (3), 254 (2021)
   PUBMED   33692340
  REMARK    GeneRIF: CTRP12 ameliorates atherosclerosis by promoting cholesterol
            efflux and inhibiting inflammatory response via the
            miR-155-5p/LXRalpha pathway. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1036)
  AUTHORS   Sobieh BH, Kassem DH, Zakaria ZM and El-Mesallamy HO.
  TITLE     Potential emerging roles of the novel adipokines adipolin/CTRP12 and
            meteorin-like/METRNL in obesity-osteoarthritis interplay
  JOURNAL   Cytokine 138, 155368 (2021)
   PUBMED   33248913
  REMARK    GeneRIF: Potential emerging roles of the novel adipokines
            adipolin/CTRP12 and meteorin-like/METRNL in obesity-osteoarthritis
            interplay.
REFERENCE   4  (bases 1 to 1036)
  AUTHORS   Omidifar A, Toolabi K, Rahimipour A, Emamgholipour S and Shanaki M.
  TITLE     The gene expression of CTRP12 but not CTRP13 is upregulated in both
            visceral and subcutaneous adipose tissue of obese subjects
  JOURNAL   Diabetes Metab Syndr 13 (4), 2593-2599 (2019)
   PUBMED   31405681
  REMARK    GeneRIF: High CTRP12 expression is associated with obesity.
REFERENCE   5  (bases 1 to 1036)
  AUTHORS   Kasabri V, Al-Ghareeb MI, Saleh MI, Suyagh M, Halaseh L, Al-Sarraf I
            and AlAlawi S.
  TITLE     Proportional correlates of adipolin and cathepsin S in metabolic
            syndrome patients with and without prediabetes
  JOURNAL   Diabetes Metab Syndr 13 (4), 2403-2408 (2019)
   PUBMED   31405651
  REMARK    GeneRIF: High Serum adipolin levels are associated with metabolic
            syndrome and prediabetes.
REFERENCE   6  (bases 1 to 1036)
  AUTHORS   Tan BK, Chen J, Hu J, Amar O, Mattu HS, Ramanjaneya M, Patel V,
            Lehnert H and Randeva HS.
  TITLE     Circulatory changes of the novel adipokine adipolin/CTRP12 in
            response to metformin treatment and an oral glucose challenge in
            humans
  JOURNAL   Clin Endocrinol (Oxf) 81 (6), 841-846 (2014)
   PUBMED   24612181
  REMARK    GeneRIF: Serum adipolin concentrations were significantly lower in
            polycystic ovarian syndrome compared with control subjects.
REFERENCE   7  (bases 1 to 1036)
  AUTHORS   Tan BK, Lewandowski KC, O'Hare JP and Randeva HS.
  TITLE     Insulin regulates the novel adipokine adipolin/CTRP12: in vivo and
            ex vivo effects
  JOURNAL   J Endocrinol 221 (1), 111-119 (2014)
   PUBMED   24492466
  REMARK    GeneRIF: In subcutaneous adipose tissue explants, insulin
            significantly increased CTRP12 protein expression and secretion.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1036)
  AUTHORS   Conde,J., Scotece,M., Lopez,V., Gomez,R., Lago,F., Pino,J.,
            Gomez-Reino,J.J. and Gualillo,O.
  TITLE     Expression and modulation of adipolin/C1qdc2: a novel adipokine in
            human and murine ATDC-5 chondrocyte cell line
  JOURNAL   Ann Rheum Dis 72 (1), 140-142 (2013)
   PUBMED   22736092
  REMARK    GeneRIF: we describe, for the first time, adipolin expression in
            human chondrocytes as well as the intracellular mechanism involved
            in its regulation
REFERENCE   9  (bases 1 to 1036)
  AUTHORS   Wei Z, Lei X, Seldin MM and Wong GW.
  TITLE     Endopeptidase cleavage generates a functionally distinct isoform of
            C1q/tumor necrosis factor-related protein-12 (CTRP12) with an
            altered oligomeric state and signaling specificity
  JOURNAL   J Biol Chem 287 (43), 35804-35814 (2012)
   PUBMED   22942287
  REMARK    GeneRIF: Endopeptidase cleavage generates a functionally distinct
            isoform of C1q/tumor necrosis factor-related protein-12 (CTRP12)
            with an altered oligomeric state and signaling specificity.
REFERENCE   10  (bases 1 to 1036)
  AUTHORS   Enomoto T, Ohashi K, Shibata R, Higuchi A, Maruyama S, Izumiya Y,
            Walsh K, Murohara T and Ouchi N.
  TITLE     Adipolin/C1qdc2/CTRP12 protein functions as an adipokine that
            improves glucose metabolism
  JOURNAL   J Biol Chem 286 (40), 34552-34558 (2011)
   PUBMED   21849507
  REMARK    GeneRIF: Reports cloning, expression, regulation and function of
            mouse adipolin (Fam132a)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC089443.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000330388.2/ ENSP00000329137.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC089443.1.
            On May 17, 2019 this sequence version replaced NM_001014980.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1036
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..1036
                     /gene="C1QTNF12"
                     /gene_synonym="C1QDC2; CTRP12; FAM132A"
                     /note="C1q and TNF related 12"
                     /db_xref="GeneID:388581"
                     /db_xref="HGNC:HGNC:32308"
                     /db_xref="MIM:616593"
     CDS             33..941
                     /gene="C1QTNF12"
                     /gene_synonym="C1QDC2; CTRP12; FAM132A"
                     /note="C1q domain containing 2; adipose-derived
                     insulin-sensitizing factor; C1q/TNF-related protein 12;
                     adipolin; protein FAM132A; complement C1q tumor necrosis
                     factor-related protein 12; family with sequence similarity
                     132 member A; C1q and tumor necrosis factor related protein
                     12; C1q and TNF related protein 12"
                     /codon_start=1
                     /product="adipolin precursor"
                     /protein_id="NP_001014980.1"
                     /db_xref="CCDS:CCDS30554.1"
                     /db_xref="GeneID:388581"
                     /db_xref="HGNC:HGNC:32308"
                     /db_xref="MIM:616593"
                     /translation="MRRWAWAAVVVLLGPQLVLLGGVGARREAQRTQQPGQRADPPNAT
                     ASASSREGLPEAPKPSQASGPEFSDAHMTWLNFVRRPDDGALRKRCGSRDKKPRDLFGP
                     PGPPGAEVTAETLLHEFQELLKEATERRFSGLLDPLLPQGAGLRLVGEAFHCRLQGPRR
                     VDKRTLVELHGFQAPAAQGAFLRGSGLSLASGRFTAPVSGIFQFSASLHVDHSELQGKA
                     RLRARDVVCVLICIESLCQRHTCLEAVSGLESNSRVFTLQVQGLLQLQAGQYASVFVDN
                     GSGAVLTIQAGSSFSGLLLGT"
     sig_peptide     33..92
                     /gene="C1QTNF12"
                     /gene_synonym="C1QDC2; CTRP12; FAM132A"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     93..938
                     /gene="C1QTNF12"
                     /gene_synonym="C1QDC2; CTRP12; FAM132A"
                     /product="Adipolin fC1QTNF12.
                     /evidence=ECO:0000250|UniProtKB:Q8R2Z0. /id=PRO_0000284354"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T7M4.2)"
     misc_feature    114..236
                     /gene="C1QTNF12"
                     /gene_synonym="C1QDC2; CTRP12; FAM132A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T7M4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    159..161
                     /gene="C1QTNF12"
                     /gene_synonym="C1QDC2; CTRP12; FAM132A"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5T7M4.2); glycosylation site"
     misc_feature    288..362
                     /gene="C1QTNF12"
                     /gene_synonym="C1QDC2; CTRP12; FAM132A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T7M4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    321..326
                     /gene="C1QTNF12"
                     /gene_synonym="C1QDC2; CTRP12; FAM132A"
                     /note="Cleavage, by FURIN.
                     /evidence=ECO:0000250|UniProtKB:Q8R2Z0; propagated from
                     UniProtKB/Swiss-Prot (Q5T7M4.2); cleavage site"
     mat_peptide     324..938
                     /gene="C1QTNF12"
                     /gene_synonym="C1QDC2; CTRP12; FAM132A"
                     /product="Adipolin gC1QTNF12.
                     /evidence=ECO:0000250|UniProtKB:Q8R2Z0. /id=PRO_0000430248"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T7M4.2)"
     regulatory      1016..1021
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1QTNF12"
                     /gene_synonym="C1QDC2; CTRP12; FAM132A"
                     /note="hexamer: AATAAA"
     polyA_site      1036
                     /gene="C1QTNF12"
                     /gene_synonym="C1QDC2; CTRP12; FAM132A"
                     /note="major polyA site"
ORIGIN
        1 ctcgccgcgc tgagccgcct cgggacggag ccatgcggcg ctgggcctgg gccgcggtcg
       61 tggtcctcct cgggccgcag ctcgtgctcc tcgggggcgt cggggcccgg cgggaggcac
      121 agaggacgca gcagcctggc cagcgcgcag atccccccaa cgccaccgcc agcgcgtcct
      181 cccgcgaggg gctgcccgag gcccccaagc catcccaggc ctcaggacct gagttctccg
      241 acgcccacat gacatggctg aactttgtcc ggcggccgga cgacggcgcc ttaaggaagc
      301 ggtgcggaag cagggacaag aagccgcggg atctcttcgg tcccccagga cctccaggtg
      361 cagaagtgac cgcggagact ctgcttcacg agtttcagga gctgctgaaa gaggccacgg
      421 agcgccggtt ctcagggctt ctggacccgc tgctgcccca gggggcgggc ctgcggctgg
      481 tgggcgaggc ctttcactgc cggctgcagg gtccccgccg ggtggacaag cggacgctgg
      541 tggagctgca tggtttccag gctcctgctg cccaaggtgc cttcctgcga ggctccggtc
      601 tgagcctggc ctcgggtcgg ttcacggccc ccgtgtccgg catcttccag ttctctgcca
      661 gtctgcacgt ggaccacagt gagctgcagg gcaaggcccg gctgcgggcc cgggacgtgg
      721 tgtgtgttct catctgtatt gagtccctgt gccagcgcca cacgtgcctg gaggccgtct
      781 caggcctgga gagcaacagc agggtcttca cgctacaggt gcaggggctg ctgcagctgc
      841 aggctggaca gtacgcttct gtgtttgtgg acaatggctc cggggccgtc ctcaccatcc
      901 aggcgggctc cagcttctcc gggctgctcc tgggcacgtg agggcgccca ggggggctgg
      961 cgaggagctg ccgccggatc ccggggaccc tcctactgat gcccgtggtc accacaataa
     1021 agagccctcc accctc
//
LOCUS       NM_001014985            1217 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens glycolipid transfer protein domain containing 2
            (GLTPD2), transcript variant 2, mRNA.
ACCESSION   NM_001014985
VERSION     NM_001014985.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1217)
  AUTHORS   Inouye M, Ripatti S, Kettunen J, Lyytikainen LP, Oksala N, Laurila
            PP, Kangas AJ, Soininen P, Savolainen MJ, Viikari J, Kahonen M,
            Perola M, Salomaa V, Raitakari O, Lehtimaki T, Taskinen MR, Jarvelin
            MR, Ala-Korpela M, Palotie A and de Bakker PI.
  TITLE     Novel Loci for metabolic networks and multi-tissue expression
            studies reveal genes for atherosclerosis
  JOURNAL   PLoS Genet 8 (8), e1002907 (2012)
   PUBMED   22916037
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC029290.1, BI760716.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000331264.8/ ENSP00000328070.7
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC233723.2.
            On Nov 23, 2018 this sequence version replaced NM_001014985.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1217
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..1217
                     /gene="GLTPD2"
                     /note="glycolipid transfer protein domain containing 2"
                     /db_xref="GeneID:388323"
                     /db_xref="HGNC:HGNC:33756"
     CDS             49..924
                     /gene="GLTPD2"
                     /note="isoform 1 precursor is encoded by transcript variant
                     2; glycolipid transfer protein domain-containing protein 2"
                     /codon_start=1
                     /product="glycolipid transfer protein domain-containing
                     protein 2 isoform 1 precursor"
                     /protein_id="NP_001014985.3"
                     /db_xref="CCDS:CCDS32534.1"
                     /db_xref="GeneID:388323"
                     /db_xref="HGNC:HGNC:33756"
                     /translation="MGVAARPPALRHWFSHSIPLAIFALLLLYLSVRSLGARSGCGPRA
                     QPCVPGETAPFQVRQESGTLEAPERKQPPCLGPRGMLGRMMRRFHASLKPEGDVGLSPY
                     LAGWRALVEFLTPLGSVFAFATREAFTKVTDLEARVHGPDAEHYWSLVAMAAWERRAGL
                     LEQPGAAPRDPTRSSGSRTLLLLHRALRWSQLCLHRVATGALGGPDAGVQCSDAYRAAL
                     GPHHPWLVRQTARLAFLAFPGRRRLLELACPGATEAEARAALVRAAGTLEDVYNRTQSL
                     LAERGLLQLA"
     sig_peptide     49..156
                     /gene="GLTPD2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    874..876
                     /gene="GLTPD2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (A6NH11.2); glycosylation site"
     regulatory      1200..1205
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLTPD2"
                     /note="hexamer: AATAAA"
     polyA_site      1217
                     /gene="GLTPD2"
                     /note="major polyA site"
ORIGIN
        1 acggactggc taggcgctgg tgagggggcg gcggtcccag cagcaggcat gggagtggcg
       61 gcgcggcccc cagccctgcg gcactggttc agccactcaa ttcctctcgc tatcttcgcg
      121 ctgctgctgc tttatctcag tgttcggagc ctaggcgccc gctcgggctg cggacccagg
      181 gcgcagccct gcgttccagg ggaaacggcg cccttccagg tccggcagga gtcgggaacc
      241 ctggaggccc cggagaggaa acagcctccg tgtctgggcc ctcgggggat gctgggccgc
      301 atgatgaggc ggttccacgc cagtctgaaa cccgaagggg atgtggggct gtcgccgtac
      361 ctggcgggat ggagggcact cgtcgagttc ctgactcccc tcggctccgt cttcgccttc
      421 gccactaggg aggccttcac caaggtgaca gacctggagg ctcgggtgca cggcccggac
      481 gcggagcact actggtcgct ggtggccatg gcggcgtggg agcggagggc gggactgctg
      541 gagcagccgg gggcggcccc ccgggacccg acccggagct cgggctctcg cacgctgctc
      601 ctgctgcacc gcgcgctgcg ctggtcccag ctctgcctcc accgggtggc gaccggcgcg
      661 ctgggaggcc cggacgcggg cgtgcagtgc agcgacgcct accgtgcggc cctgggtccg
      721 catcacccct ggctggtccg acagaccgcc cgcctcgcct tcctcgcctt cccgggtcgc
      781 cgccgcctgc tggagctggc gtgtcccgga gccaccgagg cggaggcgcg ggccgcgctg
      841 gtccgggccg ccggcacctt ggaggatgtc tacaaccgca cccagagcct gctggccgag
      901 cgcggcctgc tccagctggc ctaagacggc ggctgcgggg accggcggga acggagcgga
      961 ccgcccgggg tggggccgcg cagcccgggg tcagtcctgc agcccgcgcc gcggccgcct
     1021 ccgtatcccg cctcttccgt gacgtcgccg cggcgagggc cgcccccggc agggaatggc
     1081 gttgagctcc ctctgtccgc agtctcggaa agacgggagg agctgtgagg aataaaaaag
     1141 caatatttgg cagcgtcgac gtagggcgtt ttgtgtgatg acgacaggcg cttaagggaa
     1201 ataaaaaacg aaggtga
//
LOCUS       NM_001014987            1671 bp    mRNA    linear   PRI 17-SEP-2023
DEFINITION  Homo sapiens linker for activation of T cells (LAT), transcript
            variant 2, mRNA.
ACCESSION   NM_001014987
VERSION     NM_001014987.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1671)
  AUTHORS   Yu J, Gao W, Gao S, Wen S, Zhao Y, Shang Z, Wang Y and Niu Y.
  TITLE     Identification of LAT/ZAP70 characterized immune subtypes of
            prostate cancer
  JOURNAL   World J Urol 40 (11), 2817-2824 (2022)
   PUBMED   36205741
  REMARK    GeneRIF: Identification of LAT/ZAP70 characterized immune subtypes
            of prostate cancer.
REFERENCE   2  (bases 1 to 1671)
  AUTHORS   Hayashi K and Anzai N.
  TITLE     L-type amino acid transporter 1 as a target for inflammatory disease
            and cancer immunotherapy
  JOURNAL   J Pharmacol Sci 148 (1), 31-40 (2022)
   PUBMED   34924127
  REMARK    GeneRIF: L-type amino acid transporter 1 as a target for
            inflammatory disease and cancer immunotherapy. Review article
REFERENCE   3  (bases 1 to 1671)
  AUTHORS   Glatzova D, Mavila H, Saija MC, Chum T, Cwiklik L, Brdicka T and
            Cebecauer M.
  TITLE     The role of prolines and glycine in the transmembrane domain of LAT
  JOURNAL   FEBS J 288 (13), 4039-4052 (2021)
   PUBMED   33458942
  REMARK    GeneRIF: The role of prolines and glycine in the transmembrane
            domain of LAT.
REFERENCE   4  (bases 1 to 1671)
  AUTHORS   Saez JJ, Dogniaux S, Shafaq-Zadah M, Johannes L, Hivroz C and
            Zucchetti AE.
  TITLE     Retrograde and Anterograde Transport of Lat-Vesicles during the
            Immunological Synapse Formation: Defining the Finely-Tuned Mechanism
  JOURNAL   Cells 10 (2), 359 (2021)
   PUBMED   33572370
  REMARK    GeneRIF: Retrograde and Anterograde Transport of Lat-Vesicles during
            the Immunological Synapse Formation: Defining the Finely-Tuned
            Mechanism. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1671)
  AUTHORS   Vico-Barranco I, Arbulo-Echevarria MM, Serrano-Garcia I,
            Perez-Linaza A, Miranda-Sayago JM, Miazek A, Narbona-Sanchez I and
            Aguado E.
  TITLE     A Novel, LAT/Lck Double Deficient T Cell Subline J.CaM1.7 for
            Combined Analysis of Early TCR Signaling
  JOURNAL   Cells 10 (2), 343 (2021)
   PUBMED   33562083
  REMARK    GeneRIF: A Novel, LAT/Lck Double Deficient T Cell Subline J.CaM1.7
            for Combined Analysis of Early TCR Signaling. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 1671)
  AUTHORS   Finco TS, Kadlecek T, Zhang W, Samelson LE and Weiss A.
  TITLE     LAT is required for TCR-mediated activation of PLCgamma1 and the Ras
            pathway
  JOURNAL   Immunity 9 (5), 617-626 (1998)
   PUBMED   9846483
  REMARK    GeneRIF: LAT is required for T cell activation.
REFERENCE   7  (bases 1 to 1671)
  AUTHORS   Zhang W, Trible RP and Samelson LE.
  TITLE     LAT palmitoylation: its essential role in membrane microdomain
            targeting and tyrosine phosphorylation during T cell activation
  JOURNAL   Immunity 9 (2), 239-246 (1998)
   PUBMED   9729044
REFERENCE   8  (bases 1 to 1671)
  AUTHORS   Weber JR, Orstavik S, Torgersen KM, Danbolt NC, Berg SF, Ryan JC,
            Tasken K, Imboden JB and Vaage JT.
  TITLE     Molecular cloning of the cDNA encoding pp36, a
            tyrosine-phosphorylated adaptor protein selectively expressed by T
            cells and natural killer cells
  JOURNAL   J Exp Med 187 (7), 1157-1161 (1998)
   PUBMED   9529333
REFERENCE   9  (bases 1 to 1671)
  AUTHORS   Zhang W, Sloan-Lancaster J, Kitchen J, Trible RP and Samelson LE.
  TITLE     LAT: the ZAP-70 tyrosine kinase substrate that links T cell receptor
            to cellular activation
  JOURNAL   Cell 92 (1), 83-92 (1998)
   PUBMED   9489702
REFERENCE   10  (bases 1 to 1671)
  AUTHORS   Trub T, Frantz JD, Miyazaki M, Band H and Shoelson SE.
  TITLE     The role of a lymphoid-restricted, Grb2-like SH3-SH2-SH3 protein in
            T cell receptor signaling
  JOURNAL   J Biol Chem 272 (2), 894-902 (1997)
   PUBMED   8995379
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AJ223280.1, ERR279827.2531.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000395456.7/ ENSP00000378841.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC109460.3, BI769296.1,
            AJ223280.1 and BC011563.1.
            On Jun 2, 2019 this sequence version replaced NM_001014987.1.
            Summary: The protein encoded by this gene is phosphorylated by
            ZAP-70/Syk protein tyrosine kinases following activation of the
            T-cell antigen receptor (TCR) signal transduction pathway. This
            transmembrane protein localizes to lipid rafts and acts as a
            docking site for SH2 domain-containing proteins. Upon
            phosphorylation, this protein recruits multiple adaptor proteins
            and downstream signaling molecules into multimolecular signaling
            complexes located near the site of TCR engagement. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 4. The resulting isoform (b) is
            shorter at the N-terminus compared to isoform d.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1671
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..1671
                     /gene="LAT"
                     /gene_synonym="IMD52; LAT1; pp36"
                     /note="linker for activation of T cells"
                     /db_xref="GeneID:27040"
                     /db_xref="HGNC:HGNC:18874"
                     /db_xref="MIM:602354"
     misc_feature    121..123
                     /gene="LAT"
                     /gene_synonym="IMD52; LAT1; pp36"
                     /note="upstream in-frame stop codon"
     CDS             367..1068
                     /gene="LAT"
                     /gene_synonym="IMD52; LAT1; pp36"
                     /note="isoform b is encoded by transcript variant 2; 36 kDa
                     phospho-tyrosine adaptor protein; linker for activation of
                     T-cells family member 1; p36-38; 36 kDa phospho-tyrosine
                     adapter protein; linker for activation of T cells,
                     transmembrane adaptor; 36 kDa phosphotyrosine adapter
                     protein"
                     /codon_start=1
                     /product="linker for activation of T-cells family member 1
                     isoform b"
                     /protein_id="NP_001014987.1"
                     /db_xref="CCDS:CCDS32425.1"
                     /db_xref="GeneID:27040"
                     /db_xref="HGNC:HGNC:18874"
                     /db_xref="MIM:602354"
                     /translation="MEEAILVPCVLGLLLLPILAMLMALCVHCHRLPGSYDSTSSDSLY
                     PRGIQFKRPHTVAPWPPAYPPVTSYPPLSQPDLLPIPRSPQPLGGSHRTPSSRRDSDGA
                     NSVASYENEEPACEDADEDEDDYHNPGYLVVLPDSTPATSTAAPSAPALSTPGIRDSAF
                     SMESIDDYVNVPESGESAEASLDGSREYVNVSQELHPGAAKTEPAALSSQEAEEVEEEG
                     APDYENLQELN"
     regulatory      1315..1320
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LAT"
                     /gene_synonym="IMD52; LAT1; pp36"
                     /note="hexamer: AATAAA"
     polyA_site      1342
                     /gene="LAT"
                     /gene_synonym="IMD52; LAT1; pp36"
                     /note="major polyA site"
     regulatory      1648..1653
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LAT"
                     /gene_synonym="IMD52; LAT1; pp36"
                     /note="hexamer: AATAAA"
     polyA_site      1671
                     /gene="LAT"
                     /gene_synonym="IMD52; LAT1; pp36"
                     /note="major polyA site"
ORIGIN
        1 acagcttcct gccgcaggcg ggcgggaggg cgggcacgga gaggcgggcg ccgaggaggg
       61 gcaggtaggg ctgggacgca ggggtaactg gatcccccga cttcagccca ggccctggtc
      121 tgaccaccct gggagcaggg actttccaca gtcagctgga cgcacactca gcccagtaaa
      181 agaggggacc catcccggga gccccgggga gggcacagct gcctcctccc gggctcccct
      241 gccacctggt gcctacctgc cccctgctcc ctgccgggtc cggtcctcac cccatcttca
      301 tctggccttg actctgccct tgaggggcct aggggtgcag ccagcctgct ccgagctccc
      361 ctgcagatgg aggaggccat cctggtcccc tgcgtgctgg ggctcctgct gctgcccatc
      421 ctggccatgt tgatggcact gtgtgtgcac tgccacagac tgccaggctc ctacgacagc
      481 acatcctcag atagtttgta tccaaggggc atccagttca aacggcctca cacggttgcc
      541 ccctggccac ctgcctaccc acctgtcacc tcctacccac ccctgagcca gccagacctg
      601 ctccccatcc caagatcccc gcagcccctt gggggctccc accggacgcc atcttcccgg
      661 cgggattctg atggtgccaa cagtgtggcg agctacgaga acgaggaacc agcctgtgag
      721 gatgcggatg aggatgagga cgactatcac aacccaggct acctggtggt gcttcctgac
      781 agcaccccgg ccactagcac tgctgcccca tcagctcctg cactcagcac ccctggcatc
      841 cgagacagtg ccttctccat ggagtccatt gatgattacg tgaacgttcc ggagagcggg
      901 gagagcgcag aagcgtctct ggatggcagc cgggagtatg tgaatgtgtc ccaggaactg
      961 catcctggag cggctaagac tgagcctgcc gccctgagtt cccaggaggc agaggaagtg
     1021 gaggaagagg gggctccaga ttacgagaat ctgcaggagc tgaactgagg gcctgtggag
     1081 gccgagtctg tcctggaacc aggcttgcct gggacggctg agctgggcag ctggaagtgg
     1141 ctctggggtc ctcacatggc gtcctgccct tgctccagcc tgacaacagc ctgagaaatc
     1201 cccccgtaac ttattatcac tttggggttc ggcctgtgtc ccccgaacgc tctgcacctt
     1261 ctgacgcagc ctgagaatga cctgccctgg ccccagccct actctgtgta atagaataaa
     1321 ggcctgcgtg tgtctgtgtt gagcgtgcgt ctgtgtgtgc ctgtgtgcga gtctgagtca
     1381 gagatttgga gatgtctctg tgtgtttgtg tgtatctgtg ggtctccatc ctccatgggg
     1441 gctcagccag gtgctgtgac accccccttc tgaatgaagc cttctgacct gggctggcac
     1501 tgctgggggt gaggacacat tgccccatga gacagtccca gaacacggca gctgctggct
     1561 gtgacaatgg tttcaccatc cttagaccaa gggatgggac ctgatgacct gggaggactc
     1621 tcttagttct taccttttgt ggttctcaat aaaacagaac ttaaaaaatt g
//
LOCUS       NM_001014999            1133 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens SLX1 homolog A, structure-specific endonuclease subunit
            (SLX1A), transcript variant 1, mRNA.
ACCESSION   NM_001014999
VERSION     NM_001014999.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1133)
  AUTHORS   Garribba L, Bjerregaard VA, Goncalves Dinis MM, Ozer O, Wu W,
            Sakellariou D, Pena-Diaz J, Hickson ID and Liu Y.
  TITLE     Folate stress induces SLX1- and RAD51-dependent mitotic DNA
            synthesis at the fragile X locus in human cells
  JOURNAL   Proc Natl Acad Sci U S A 117 (28), 16527-16536 (2020)
   PUBMED   32601218
  REMARK    GeneRIF: Folate stress induces SLX1- and RAD51-dependent mitotic DNA
            synthesis at the fragile X locus in human cells.
REFERENCE   2  (bases 1 to 1133)
  AUTHORS   Zhou X, DeLucia M and Ahn J.
  TITLE     SLX4-SLX1 Protein-independent Down-regulation of MUS81-EME1 Protein
            by HIV-1 Viral Protein R (Vpr)
  JOURNAL   J Biol Chem 291 (33), 16936-16947 (2016)
   PUBMED   27354282
  REMARK    GeneRIF: SLX4-SLX1 Protein-independent Down-regulation of MUS81-EME1
            Protein by HIV-1 Viral Protein R (Vpr).
REFERENCE   3  (bases 1 to 1133)
  AUTHORS   Wyatt HD, Sarbajna S, Matos J and West SC.
  TITLE     Coordinated actions of SLX1-SLX4 and MUS81-EME1 for Holliday
            junction resolution in human cells
  JOURNAL   Mol Cell 52 (2), 234-247 (2013)
   PUBMED   24076221
  REMARK    GeneRIF: Data show that three structure-selective endonucleases,
            SLX1-SLX4, MUS81-EME1, and GEN1, define two pathways of Holliday
            junctions (HJs) resolution in HeLa cells.
REFERENCE   4  (bases 1 to 1133)
  AUTHORS   Wan B, Yin J, Horvath K, Sarkar J, Chen Y, Wu J, Wan K, Lu J, Gu P,
            Yu EY, Lue NF, Chang S, Liu Y and Lei M.
  TITLE     SLX4 assembles a telomere maintenance toolkit by bridging multiple
            endonucleases with telomeres
  JOURNAL   Cell Rep 4 (5), 861-869 (2013)
   PUBMED   24012755
REFERENCE   5  (bases 1 to 1133)
  AUTHORS   Fekairi S, Scaglione S, Chahwan C, Taylor ER, Tissier A, Coulon S,
            Dong MQ, Ruse C, Yates JR 3rd, Russell P, Fuchs RP, McGowan CH and
            Gaillard PHL.
  TITLE     Human SLX4 is a Holliday junction resolvase subunit that binds
            multiple DNA repair/recombination endonucleases
  JOURNAL   Cell 138 (1), 78-89 (2009)
   PUBMED   19596236
REFERENCE   6  (bases 1 to 1133)
  AUTHORS   Svendsen JM, Smogorzewska A, Sowa ME, O'Connell BC, Gygi SP, Elledge
            SJ and Harper JW.
  TITLE     Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is
            required for DNA repair
  JOURNAL   Cell 138 (1), 63-77 (2009)
   PUBMED   19596235
REFERENCE   7  (bases 1 to 1133)
  AUTHORS   Andersen SL, Bergstralh DT, Kohl KP, LaRocque JR, Moore CB and
            Sekelsky J.
  TITLE     Drosophila MUS312 and the vertebrate ortholog BTBD12 interact with
            DNA structure-specific endonucleases in DNA repair and recombination
  JOURNAL   Mol Cell 35 (1), 128-135 (2009)
   PUBMED   19595722
REFERENCE   8  (bases 1 to 1133)
  AUTHORS   Munoz IM, Hain K, Declais AC, Gardiner M, Toh GW, Sanchez-Pulido L,
            Heuckmann JM, Toth R, Macartney T, Eppink B, Kanaar R, Ponting CP,
            Lilley DM and Rouse J.
  TITLE     Coordination of structure-specific nucleases by human SLX4/BTBD12 is
            required for DNA repair
  JOURNAL   Mol Cell 35 (1), 116-127 (2009)
   PUBMED   19595721
REFERENCE   9  (bases 1 to 1133)
  AUTHORS   Hildebrandt MA, Salavaggione OE, Martin YN, Flynn HC, Jalal S,
            Wieben ED and Weinshilboum RM.
  TITLE     Human SULT1A3 pharmacogenetics: gene duplication and functional
            genomic studies
  JOURNAL   Biochem Biophys Res Commun 321 (4), 870-878 (2004)
   PUBMED   15358107
REFERENCE   10  (bases 1 to 1133)
  AUTHORS   Wistow G, Bernstein SL, Ray S, Wyatt MK, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of adult human iris for the NEIBank
            Project: steroid-response factors and similarities with retinal
            pigment epithelium
  JOURNAL   Mol Vis 8, 185-195 (2002)
   PUBMED   12107412
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BQ066696.1, AL523681.3 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000251303.11/ ENSP00000251303.7
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI757439.1, CD673028.1,
            BC144462.1 and AI885276.1.
            On Nov 27, 2019 this sequence version replaced NM_001014999.2.
            Summary: This gene encodes a protein that is an important regulator
            of genome stability. The protein represents the catalytic subunit
            of the SLX1-SLX4 structure-specific endonuclease, which can resolve
            DNA secondary structures that are formed during repair and
            recombination processes. Two identical copies of this gene are
            located on the p arm of chromosome 16 due to a segmental
            duplication; this record represents the more centromeric copy.
            Alternative splicing results in multiple transcript variants.
            Read-through transcription also occurs between this gene and the
            downstream SULT1A3 (sulfotransferase family, cytosolic, 1A,
            phenol-preferring, member 3) gene. [provided by RefSeq, Nov 2010].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1133
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..1133
                     /gene="SLX1A"
                     /gene_synonym="GIYD1"
                     /note="SLX1 homolog A, structure-specific endonuclease
                     subunit"
                     /db_xref="GeneID:548593"
                     /db_xref="HGNC:HGNC:20922"
                     /db_xref="MIM:615822"
     CDS             211..1038
                     /gene="SLX1A"
                     /gene_synonym="GIYD1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     GIY-YIG domain-containing protein 1; SLX1
                     structure-specific endonuclease subunit homolog A"
                     /codon_start=1
                     /product="structure-specific endonuclease subunit SLX1
                     isoform 1"
                     /protein_id="NP_001014999.1"
                     /db_xref="CCDS:CCDS32431.1"
                     /db_xref="GeneID:548593"
                     /db_xref="HGNC:HGNC:20922"
                     /db_xref="MIM:615822"
                     /translation="MGPAGVAARPGRFFGVYLLYCLNPRYRGRVYVGFTVNTARRVQQH
                     NGGRKKGGAWRTSGRGPWEMVLVVHGFPSSVAALRFEWAWQHPHASRRLAHVGPRLRGE
                     TAFAFHLRVLAHMLRAPPWARLPLTLRWVRPDLRQDLCLPPPPHVPLAFGPPPPQAPAP
                     RRRAGPFDDAEPEPDQGDPGACCSLCAQTIQDEEGPLCCPHPGCLLRAHVICLAEEFLQ
                     EEPGQLLPLEGQCPCCEKSLLWGDLIWLCQMDTEKEVEDSELEEAHWTDLLET"
     misc_feature    652..747
                     /gene="SLX1A"
                     /gene_synonym="GIYD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQ83.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 agtctggctt ccgcggtcgg acttctacac ccgcctccag acaggagagg ggcacgtacc
       61 ggcgctacgg cttcctgcag gctgcctccg gatagtcccc gagagcttgt tccgaagcaa
      121 gcaccctgca gccctagcga tccagccctc ccctggaccc taggtcacgg caatcaaccc
      181 cctgctgtgg ttcccgaacc ccaaggcccg atgggtcccg cgggggtcgc ggcgaggcca
      241 gggcgctttt tcggcgtcta cctgctctac tgcctgaacc cccggtaccg gggccgcgtc
      301 tacgtggggt tcactgtcaa cactgctcgt cgggtccagc agcacaatgg gggccgcaaa
      361 aaaggcgggg cctggcggac cagcgggcga gggccctggg agatggtgct cgtcgtgcac
      421 ggcttcccgt cctccgtggc cgcccttcgg tttgagtggg cttggcagca cccgcacgcc
      481 tcgcgccgcc tggcgcacgt ggggcctcgc ctgcgaggag agacagcctt cgctttccac
      541 ctgcgcgtgc tggcgcacat gctgcgcgca ccgccctggg ctcgcctccc gctcacgctg
      601 cgctgggtgc gcccagacct ccgccaggac ctctgcctcc cgccgccgcc gcacgtgcct
      661 ctggccttcg ggcctccacc gccccaggcc ccggccccaa ggcgccgcgc aggtcccttt
      721 gatgacgcgg agcctgagcc agaccagggg gatccagggg cctgctgctc cctgtgcgcc
      781 cagaccatcc aggatgaaga ggggcccttg tgttgccccc accctggctg cctgctaagg
      841 gcccatgtga tctgcctggc agaggagttt cttcaggaag aaccagggca gcttctgccc
      901 ctagagggcc aatgcccttg ctgtgagaag tcactgcttt ggggagacct gatctggctg
      961 tgccagatgg acactgagaa agaagtagaa gactcagaat tagaagaggc acactggaca
     1021 gacctgctgg agacctgatc ctcagtgtcc ttaccccctc ctacctcttt tctgtgccac
     1081 ctgctgtggg tccagcaggt ttttacttga gtacaataaa aagtctgagt caa
//
LOCUS       NM_001015                573 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S11 (RPS11), mRNA.
ACCESSION   NM_001015
VERSION     NM_001015.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 573)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   2  (bases 1 to 573)
  AUTHORS   Kennedy SA, Jarboui MA, Srihari S, Raso C, Bryan K, Dernayka L,
            Charitou T, Bernal-Llinares M, Herrera-Montavez C, Krstic A,
            Matallanas D, Kotlyar M, Jurisica I, Curak J, Wong V, Stagljar I,
            LeBihan T, Imrie L, Pillai P, Lynn MA, Fasterius E, Al-Khalili
            Szigyarto C, Breen J, Kiel C, Serrano L, Rauch N, Rukhlenko O,
            Kholodenko BN, Iglesias-Martinez LF, Ryan CJ, Pilkington R,
            Cammareri P, Sansom O, Shave S, Auer M, Horn N, Klose F, Ueffing M,
            Boldt K, Lynn DJ and Kolch W.
  TITLE     Extensive rewiring of the EGFR network in colorectal cancer cells
            expressing transforming levels of KRASG13D
  JOURNAL   Nat Commun 11 (1), 499 (2020)
   PUBMED   31980649
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 573)
  AUTHORS   Lee JH, Han JH, Kim H, Park SM, Joe EH and Jou I.
  TITLE     Parkinson's disease-associated LRRK2-G2019S mutant acts through
            regulation of SERCA activity to control ER stress in astrocytes
  JOURNAL   Acta Neuropathol Commun 7 (1), 68 (2019)
   PUBMED   31046837
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 573)
  AUTHORS   Yong WH, Shabihkhani M, Telesca D, Yang S, Tso JL, Menjivar JC, Wei
            B, Lucey GM, Mareninov S, Chen Z, Liau LM, Lai A, Nelson SF,
            Cloughesy TF and Tso CL.
  TITLE     Ribosomal Proteins RPS11 and RPS20, Two Stress-Response Markers of
            Glioblastoma Stem Cells, Are Novel Predictors of Poor Prognosis in
            Glioblastoma Patients
  JOURNAL   PLoS One 10 (10), e0141334 (2015)
   PUBMED   26506620
  REMARK    GeneRIF: increased expression of RPS11 and RPS20 predicts shorter
            patient survival. treatment-resistant GSC clones are clinically
            relevant cells that represent resistant tumorigenic clones from
            patient tumors and that their properties Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 573)
  AUTHORS   Yoshihama M, Uechi T, Asakawa S, Kawasaki K, Kato S, Higa S, Maeda
            N, Minoshima S, Tanaka T, Shimizu N and Kenmochi N.
  TITLE     The human ribosomal protein genes: sequencing and comparative
            analysis of 73 genes
  JOURNAL   Genome Res 12 (3), 379-390 (2002)
   PUBMED   11875025
REFERENCE   6  (bases 1 to 573)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   7  (bases 1 to 573)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   8  (bases 1 to 573)
  AUTHORS   Feo S, Davies B and Fried M.
  TITLE     The mapping of seven intron-containing ribosomal protein genes shows
            they are unlinked in the human genome
  JOURNAL   Genomics 13 (1), 201-207 (1992)
   PUBMED   1577483
REFERENCE   9  (bases 1 to 573)
  AUTHORS   Ferrari S, Manfredini R, Tagliafico E, Rossi E, Donelli A, Torelli G
            and Torelli U.
  TITLE     Noncoordinated expression of S6, S11, and S14 ribosomal protein
            genes in leukemic blast cells
  JOURNAL   Cancer Res 50 (18), 5825-5828 (1990)
   PUBMED   1697501
REFERENCE   10  (bases 1 to 573)
  AUTHORS   Lott JB and Mackie GA.
  TITLE     Sequence of a cloned cDNA encoding human ribosomal protein S11
  JOURNAL   Nucleic Acids Res 16 (3), 1205 (1988)
   PUBMED   3267208
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BP344052.1, BI550467.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000270625.7/ ENSP00000270625.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AK311809.1 and BI550467.1.
            On Nov 23, 2018 this sequence version replaced NM_001015.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a member of the
            S17P family of ribosomal proteins that is a component of the 40S
            subunit. This gene is co-transcribed with the small nucleolar RNA
            gene U35B, which is located in the third intron. As is typical for
            genes encoding ribosomal proteins, there are multiple processed
            pseudogenes of this gene dispersed throughout the genome. [provided
            by RefSeq, Jul 2012].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..573
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..573
                     /gene="RPS11"
                     /gene_synonym="S11; uS17"
                     /note="ribosomal protein S11"
                     /db_xref="GeneID:6205"
                     /db_xref="HGNC:HGNC:10384"
                     /db_xref="MIM:180471"
     CDS             24..500
                     /gene="RPS11"
                     /gene_synonym="S11; uS17"
                     /note="40S ribosomal protein S11"
                     /codon_start=1
                     /product="small ribosomal subunit protein uS17"
                     /protein_id="NP_001006.1"
                     /db_xref="CCDS:CCDS12769.1"
                     /db_xref="GeneID:6205"
                     /db_xref="HGNC:HGNC:10384"
                     /db_xref="MIM:180471"
                     /translation="MADIQTERAYQKQPTIFQNKKRVLLGETGKEKLPRYYKNIGLGFK
                     TPKEAIEGTYIDKKCPFTGNVSIRGRILSGVVTKMKMQRTIVIRRDYLHYIRKYNRFEK
                     RHKNMSVHLSPCFRDVQIGDIVTVGECRPLSKTVRFNVLKVTKAAGTKKQFQKF"
     misc_feature    27..29
                     /gene="RPS11"
                     /gene_synonym="S11; uS17"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.6,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P62280.3); acetylation site"
     misc_feature    135..137
                     /gene="RPS11"
                     /gene_synonym="S11; uS17"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62280.3); acetylation site"
     misc_feature    156..158
                     /gene="RPS11"
                     /gene_synonym="S11; uS17"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62280.3); acetylation site"
     misc_feature    195..197
                     /gene="RPS11"
                     /gene_synonym="S11; uS17"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P62281; propagated from
                     UniProtKB/Swiss-Prot (P62280.3); acetylation site"
     misc_feature    222..224
                     /gene="RPS11"
                     /gene_synonym="S11; uS17"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P62280.3); phosphorylation site"
     misc_feature    228..230
                     /gene="RPS11"
                     /gene_synonym="S11; uS17"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P62281; propagated from
                     UniProtKB/Swiss-Prot (P62280.3); methylation site"
     misc_feature    351..353
                     /gene="RPS11"
                     /gene_synonym="S11; uS17"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P62280.3); phosphorylation site"
     regulatory      531..536
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS11"
                     /gene_synonym="S11; uS17"
                     /note="hexamer: AATAAA"
     polyA_site      554
                     /gene="RPS11"
                     /gene_synonym="S11; uS17"
                     /note="major polyA site"
ORIGIN
        1 ctttttttca ggcggccggg aagatggcgg acattcagac tgagcgtgcc taccaaaagc
       61 agccgaccat ctttcaaaac aagaagaggg tcctgctggg agaaactggc aaggagaagc
      121 tcccgcggta ctacaagaac atcggtctgg gcttcaagac acccaaggag gctattgagg
      181 gcacctacat tgacaagaaa tgccccttca ctggtaatgt gtccattcga gggcggatcc
      241 tctctggcgt ggtgaccaag atgaagatgc agaggaccat tgtcatccgc cgagactatc
      301 tgcactacat ccgcaagtac aaccgcttcg agaagcgcca caagaacatg tctgtacacc
      361 tgtccccctg cttcagggac gtccagatcg gtgacatcgt cacagtgggc gagtgccggc
      421 ctctgagcaa gacagtgcgc ttcaacgtgc tcaaggtcac caaggctgcc ggcaccaaga
      481 agcagttcca gaagttctga ggctggacat cggcccgctc cccacaatga aataaagtta
      541 ttttctcatt cccaggccag acttgggatc ttc
//
LOCUS       NM_001015038             540 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens PAGE family member 2B (PAGE2B), mRNA.
ACCESSION   NM_001015038
VERSION     NM_001015038.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 540)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   2  (bases 1 to 540)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer
            M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL,
            Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME,
            Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R,
            Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson
            A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler
            DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S,
            Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker
            GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O,
            Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman
            AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P,
            Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel
            L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z,
            Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S,
            Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS,
            Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O,
            Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H,
            Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T,
            Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis
            F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner
            G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R,
            Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S,
            Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume
            J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de
            Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis
            P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK,
            Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM,
            Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J,
            Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl
            P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S,
            Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN,
            Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S,
            Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey
            Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG,
            Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD,
            Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann
            RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K,
            Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M,
            Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry
            GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey
            DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L,
            Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S,
            Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A,
            Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM,
            Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R,
            Hubbard T, Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.217767.1, DB518996.2
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374971.2/ ENSP00000364110.1
            RefSeq Select criteria      :: based on expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590240.5, HY192793.1 and BM782405.1.
            On May 17, 2019 this sequence version replaced NM_001015038.2.
FEATURES             Location/Qualifiers
     source          1..540
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.21"
     gene            1..540
                     /gene="PAGE2B"
                     /gene_synonym="CT16.5; GAGEE3; PAGE-2B"
                     /note="PAGE family member 2B"
                     /db_xref="GeneID:389860"
                     /db_xref="HGNC:HGNC:31805"
     misc_feature    55..57
                     /gene="PAGE2B"
                     /gene_synonym="CT16.5; GAGEE3; PAGE-2B"
                     /note="upstream in-frame stop codon"
     CDS             94..429
                     /gene="PAGE2B"
                     /gene_synonym="CT16.5; GAGEE3; PAGE-2B"
                     /note="G antigen, family E, 3; prostate-associated gene 2B
                     protein; P antigen family, member 2B"
                     /codon_start=1
                     /product="putative G antigen family E member 3"
                     /protein_id="NP_001015038.1"
                     /db_xref="CCDS:CCDS35304.1"
                     /db_xref="GeneID:389860"
                     /db_xref="HGNC:HGNC:31805"
                     /translation="MSEHVRTRSQSSERGNDQESSQPVGSVIVQEPTEEKRQEEEPPTD
                     NQGIAPSGEIENEGAPAVQGPDMEAFQQELALLKIEDEPGDGPDVREGIMPTFDLTKVL
                     EAGDAQP"
     misc_feature    94..294
                     /gene="PAGE2B"
                     /gene_synonym="CT16.5; GAGEE3; PAGE-2B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JRK9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    382..384
                     /gene="PAGE2B"
                     /gene_synonym="CT16.5; GAGEE3; PAGE-2B"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q96GU1; propagated from
                     UniProtKB/Swiss-Prot (Q5JRK9.1); phosphorylation site"
ORIGIN
        1 cttctgtcca cacacagctc tgcaaggaga gtgtcttcat tctttccgcc atcttgattc
       61 tttgtcactg accgagactc agccgtggga aatatgagtg agcatgtgag aacaagatcc
      121 caatcctcag aaagaggaaa tgaccaagag tcttcccagc cagttggatc tgtgattgtc
      181 caggagccca ctgaggaaaa acgtcaagaa gaggaaccac caactgataa tcagggtatt
      241 gcacctagtg gggagatcga aaatgaagga gcacctgccg ttcaagggcc tgacatggaa
      301 gcttttcaac aggaactggc tctgcttaag atagaggatg agcctggaga tggtcctgat
      361 gtcagggagg ggattatgcc cacttttgat ctcactaaag tgctggaagc aggtgatgcg
      421 caaccatagg tttcaagcaa gacaaatgaa gactgaaacc aagaacgtta ttcttaatct
      481 ggaaatttga ctgataatat tctcttaata aagttttaag ttttctgcaa agaatcctta
//
LOCUS       NM_001015048            4684 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens BAG cochaperone 5 (BAG5), transcript variant 3, mRNA.
ACCESSION   NM_001015048
VERSION     NM_001015048.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4684)
  AUTHORS   Hakui H, Kioka H, Miyashita Y, Nishimura S, Matsuoka K, Kato H,
            Tsukamoto O, Kuramoto Y, Takuwa A, Takahashi Y, Saito S, Ohta K,
            Asanuma H, Fu HY, Shinomiya H, Yamada N, Ohtani T, Sawa Y, Kitakaze
            M, Takashima S, Sakata Y and Asano Y.
  TITLE     Loss-of-function mutations in the co-chaperone protein BAG5 cause
            dilated cardiomyopathy requiring heart transplantation
  JOURNAL   Sci Transl Med 14 (628), eabf3274 (2022)
   PUBMED   35044787
REFERENCE   2  (bases 1 to 4684)
  AUTHORS   Wang JM, Gao Q, Zhang Q, Hao L, Jiang JY, Huyan LY, Liu BQ, Yan J,
            Li C and Wang HQ.
  TITLE     Implication of BAG5 downregulation in metabolic reprogramming of
            cisplatin-resistant ovarian cancer cells via mTORC2 signaling
            pathway
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1868 (9), 119076 (2021)
   PUBMED   34126157
  REMARK    GeneRIF: Implication of BAG5 downregulation in metabolic
            reprogramming of cisplatin-resistant ovarian cancer cells via mTORC2
            signaling pathway.
REFERENCE   3  (bases 1 to 4684)
  AUTHORS   Che N, Ng KY, Wong TL, Tong M, Kau PW, Chan LH, Lee TK, Huen MS, Yun
            JP and Ma S.
  TITLE     PRMT6 deficiency induces autophagy in hostile microenvironments of
            hepatocellular carcinoma tumors by regulating BAG5-associated HSC70
            stability
  JOURNAL   Cancer Lett 501, 247-262 (2021)
   PUBMED   33186656
  REMARK    GeneRIF: PRMT6 deficiency induces autophagy in hostile
            microenvironments of hepatocellular carcinoma tumors by regulating
            BAG5-associated HSC70 stability.
REFERENCE   4  (bases 1 to 4684)
  AUTHORS   Yan F, Fan B, Wang J, Wei W, Tang Q, Lu L, Luo Z, Pu J and Yang SS.
  TITLE     Circ_0008305-mediated miR-660/BAG5 axis contributes to
            hepatocellular carcinoma tumorigenesis
  JOURNAL   Cancer Med 10 (3), 833-842 (2021)
   PUBMED   33481351
  REMARK    GeneRIF: Circ_0008305-mediated miR-660/BAG5 axis contributes to
            hepatocellular carcinoma tumorigenesis.
REFERENCE   5  (bases 1 to 4684)
  AUTHORS   Chen HY, Lin CH and Teng SC.
  TITLE     Stress-induced p53 drives BAG5 cochaperone expression to control
            alpha-synuclein aggregation in Parkinson's disease
  JOURNAL   Aging (Albany NY) 12 (20), 20702-20727 (2020)
   PUBMED   33085644
  REMARK    GeneRIF: Stress-induced p53 drives BAG5 cochaperone expression to
            control alpha-synuclein aggregation in Parkinson's disease.
REFERENCE   6  (bases 1 to 4684)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 4684)
  AUTHORS   Kalia SK, Lee S, Smith PD, Liu L, Crocker SJ, Thorarinsdottir TE,
            Glover JR, Fon EA, Park DS and Lozano AM.
  TITLE     BAG5 inhibits parkin and enhances dopaminergic neuron degeneration
  JOURNAL   Neuron 44 (6), 931-945 (2004)
   PUBMED   15603737
  REMARK    GeneRIF: Bcl-2-associated athanogene 5 (BAG5) is a negative
            regulator of both Hsp70 and parkin function that sensitizes
            dopaminergic neurons to injury-induced death.
REFERENCE   8  (bases 1 to 4684)
  AUTHORS   Takayama S, Xie Z and Reed JC.
  TITLE     An evolutionarily conserved family of Hsp70/Hsc70 molecular
            chaperone regulators
  JOURNAL   J Biol Chem 274 (2), 781-786 (1999)
   PUBMED   9873016
REFERENCE   9  (bases 1 to 4684)
  AUTHORS   Hohfeld J and Jentsch S.
  TITLE     GrpE-like regulation of the hsc70 chaperone by the anti-apoptotic
            protein BAG-1
  JOURNAL   EMBO J 16 (20), 6209-6216 (1997)
   PUBMED   9321400
  REMARK    Erratum:[EMBO J 1998 Feb 2;17(3):847]
REFERENCE   10  (bases 1 to 4684)
  AUTHORS   Takayama S, Sato T, Krajewski S, Kochel K, Irie S, Millan JA and
            Reed JC.
  TITLE     Cloning and functional analysis of BAG-1: a novel Bcl-2-binding
            protein with anti-cell death activity
  JOURNAL   Cell 80 (2), 279-284 (1995)
   PUBMED   7834747
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB020680.1, SRR11853567.9724.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000299204.6/ ENSP00000299204.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF941752.1, AL139300.6 and
            CA424706.1.
            On Aug 13, 2020 this sequence version replaced NM_001015048.2.
            Summary: The protein encoded by this gene is a member of the
            BAG1-related protein family. BAG1 is an anti-apoptotic protein that
            functions through interactions with a variety of cell apoptosis and
            growth related proteins including BCL-2, Raf-protein kinase,
            steroid hormone receptors, growth factor receptors and members of
            the heat shock protein 70 kDa family. This protein contains a BAG
            domain near the C-terminus, which could bind and inhibit the
            chaperone activity of Hsc70/Hsp70. Three transcript variants
            encoding two different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (3) differs in the 5' UTR and
            coding region compared to variant 1. The resulting isoform (b) is
            shorter at the N-terminus compared to isoform a. Variants 2 and 3
            both encode the same isoform (b).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4684
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.33"
     gene            1..4684
                     /gene="BAG5"
                     /gene_synonym="BAG-5; CMD2F"
                     /note="BAG cochaperone 5"
                     /db_xref="GeneID:9529"
                     /db_xref="HGNC:HGNC:941"
                     /db_xref="MIM:603885"
     CDS             71..1414
                     /gene="BAG5"
                     /gene_synonym="BAG-5; CMD2F"
                     /note="bcl-2-associated athanogene 5; BCL2 associated
                     athanogene 5"
                     /codon_start=1
                     /product="BAG family molecular chaperone regulator 5"
                     /protein_id="NP_001015048.1"
                     /db_xref="CCDS:CCDS9982.1"
                     /db_xref="GeneID:9529"
                     /db_xref="HGNC:HGNC:941"
                     /db_xref="MIM:603885"
                     /translation="MDMGNQHPSISRLQEIQKEVKSVEQQVIGFSGLSDDKNYKKLERI
                     LTKQLFEIDSVDTEGKGDIQQARKRAAQETERLLKELEQNANHPHRIEIQNIFEEAQSL
                     VREKIVPFYNGGNCVTDEFEEGIQDIILRLTHVKTGGKISLRKARYHTLTKICAVQEII
                     EDCMKKQPSLPLSEDAHPSVAKINFVMCEVNKARGVLIALLMGVNNNETCRHLSCVLSG
                     LIADLDALDVCGRTEIRNYRREVVEDINKLLKYLDLEEEADTTKAFDLRQNHSILKIEK
                     VLKRMREIKNELLQAQNPSELYLSSKTELQGLIGQLDEVSLEKNPCIREARRRAVIEVQ
                     TLITYIDLKEALEKRKLFACEEHPSHKAVWNVLGNLSEIQGEVLSFDGNRTDKNYIRLE
                     ELLTKQLLALDAVDPQGEEKCKAARKQAVRLAQNILSYLDLKSDEWEY"
     regulatory      4065..4070
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BAG5"
                     /gene_synonym="BAG-5; CMD2F"
                     /note="hexamer: AGTAAA"
     polyA_site      4086
                     /gene="BAG5"
                     /gene_synonym="BAG-5; CMD2F"
                     /note="major polyA site"
     regulatory      4106..4111
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BAG5"
                     /gene_synonym="BAG-5; CMD2F"
                     /note="hexamer: ATTAAA"
     polyA_site      4138
                     /gene="BAG5"
                     /gene_synonym="BAG-5; CMD2F"
                     /note="major polyA site"
     regulatory      4654..4659
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BAG5"
                     /gene_synonym="BAG-5; CMD2F"
                     /note="hexamer: AATAAA"
     polyA_site      4684
                     /gene="BAG5"
                     /gene_synonym="BAG-5; CMD2F"
ORIGIN
        1 gaagcgtcgg cgacgcatcg cgcgatggcg cgggcgggac agtgcttgtg aaactgaaca
       61 caacaaaagt atggatatgg gaaaccaaca tccttctatt agtaggcttc aggaaatcca
      121 aaaggaagta aaaagtgtag aacagcaagt tatcggcttc agtggtctgt cagatgacaa
      181 gaattacaag aaactggaga ggattctaac aaaacagctt tttgaaatag actctgtaga
      241 tactgaagga aaaggagata ttcagcaagc taggaagcgg gcagcacagg agacagaacg
      301 tcttctcaaa gagttggagc agaatgcaaa ccacccacac cggattgaaa tacagaacat
      361 ttttgaggaa gcccagtccc tcgtgagaga gaaaattgtg ccattttata atggaggcaa
      421 ctgcgtaact gatgagtttg aagaaggcat ccaagatatc attctgaggc tgacacatgt
      481 taaaactgga ggaaaaatct ccttgcggaa agcaaggtat cacactttaa ccaaaatctg
      541 tgcggtgcaa gagataatcg aagactgcat gaaaaagcag ccttccctgc cgctttccga
      601 ggatgcacat ccttccgttg ccaaaatcaa cttcgtgatg tgtgaggtga acaaggcccg
      661 aggggtcctg attgcacttc tgatgggtgt gaacaacaat gagacctgca ggcacttatc
      721 ctgtgtgctc tcggggctga tcgctgacct ggatgctcta gatgtgtgcg gccggacaga
      781 aatcagaaat tatcggaggg aggtagtaga agatatcaac aaattattga aatatctgga
      841 tttggaagag gaagcagaca caactaaagc atttgacctg agacagaatc attccatttt
      901 aaaaatagaa aaggtcctca agagaatgag agaaataaaa aatgaacttc tccaagcaca
      961 aaacccttct gaattgtacc tgagctccaa aacagaattg cagggtttaa ttggacagtt
     1021 ggatgaggta agtcttgaaa aaaacccctg catccgggaa gccaggagaa gagcagtgat
     1081 cgaggtgcaa actctgatca catatattga cttgaaggag gcccttgaga aaagaaagct
     1141 gtttgcttgt gaggagcacc catcccataa agccgtctgg aacgtccttg gaaacttgtc
     1201 tgagatccag ggagaagttc tttcatttga tggaaatcga accgataaga actacatccg
     1261 gctggaagag ctgctcacca agcagctgct agccctggat gctgttgatc cgcagggaga
     1321 agagaagtgt aaggctgcca ggaaacaagc tgtgaggctt gcgcagaata ttctcagcta
     1381 tctcgacctg aaatctgatg aatgggagta ctgaaatacc agagatctca cttttgatac
     1441 tgttttgcac ttcatatgtg cttctatgta tagagagctt tcagttcatt gatttatacg
     1501 tgcatatttc agtctcagta tttatgattg aagcaaattc tattcagtat ctgctgcttt
     1561 tgatgttgca agacaaatat cattacagca cgttaacttt tccattcgga tcattatctg
     1621 tatgatgtgg tgtggtttgt ttggtttgtc cttttttttg cgtttttaat cagaaaacaa
     1681 aatagaggca gcttttgtag attttaaatg ggttgtgcaa gcattaaaat gcaggtcttt
     1741 cagaatctag aactaggcat aaccttacat aatactagga aaattatgag aaaggggaaa
     1801 tttttggtta aataagagta aggttcaaac acaagcagta catgttctgt ttcattatgc
     1861 tcgatagaag gctttttttt cacttataag gcctgattgg tcctacccag cttaacgggg
     1921 tggggttttt ttgtttgttc agacagtctg ttcttttgta aacattttta gttggaaaaa
     1981 cagcatctgc attttcccca tcctctacgt tttagagagg aatcttgttt ttgtgtgcaa
     2041 cataagaaaa ttatgaaaac taatagccaa aaaacctttg agattgcatt aaagagaagg
     2101 gataaaggac cagcaataat accttgtaag ttgcttttgt ttgtaaaatc tgagcttata
     2161 gttttcctta gtgagtaaat tcataaggat gggaacattt aaattaagtt aatgggcctt
     2221 taaaaaaaaa aaaaggaaac actcatacct gtagttggag gatgaatact ggagacgggt
     2281 taccaatgtc aggttatact aaaactaaat cagaaagtct gaatgtagca cataatggtt
     2341 ctcttctgtt gtccaaggct gtaaaatgga cagccttgtc acacctcccc ggtgctgttt
     2401 tacaacgtga gggtagacgc tgtcagtaac ccagagggac caggccttcc taggttttct
     2461 aggcagtcag ctgttaacca ctcacttagt aaatgtcata actacacctg ctccaggacc
     2521 aatcagtgaa acctgctcgg aattaaaggc ttcctctggg tgcctgctga acaactgagc
     2581 tcatgtcatg ggcatgtggt ggtttctctg ttgcctgaaa gagccattaa agtcagtcgt
     2641 gcgtgaagca tctctcttct aaaggatgtg tatttccata aatgctttct gaggatccgg
     2701 tacaaaatga tttcccaaag ttctgaagtg ccttgagaac atgtgggtcc gagtgttata
     2761 acagactcct cccccgggtc accttttgcc tggtcatcct gttagagtac atctttggaa
     2821 atccagggta atattctctt tcagagatgc tcattgtgta actctgtgta gggagatagt
     2881 cactttaaac agctcaaagt agctagctaa aggagtagcc ttaaatacct aaaagatgac
     2941 agaagcatag cccttaacaa atcttcagct tgtctctcag tatttcccaa tcatgaaaat
     3001 cccttgctat gtctttccta ctagaaatgt tctagaatcg ctggacggtg gggtcagagg
     3061 gcagtcggta tttaggccgt gagcttccca tactactgca ggtccaactc ctggcaaccg
     3121 cgggctcaag gcaggtcatt ggaatccacg ttttggccac agtagttgta ggattgcttt
     3181 tctgtatcat aattttagaa tgctcttaaa atcttgagga agagttttta ttttttattt
     3241 atttttgaga tggagtctct gttgcccagg ctgcagtgca gtggtgccat ctcagctcac
     3301 tgcaacctcc acctcccagg ttcaagcgat tctcctgcct cagccacctg agtagctggg
     3361 agtacaggca tgtggcacca tgcctggcta atttttgtat ttttaataga gttgagattt
     3421 caccatgatg gtcaggctgg tctcgaactc ctgacctcgt gatccgcccg cctcggcccc
     3481 ccaaagtgct gggattaacg ggtgtgagcc acggcgccca gcccaggaag agtttttaaa
     3541 ttagagctct gtttaattat accactggga aatcatggtt acgcttcagg catattcttc
     3601 cccagagtac tacttacatt ttaaatttca ttttgtaaag ttaaatgtca gcattccctt
     3661 taaaagtgtc cattgttctt tgaaagtaga cgtttcagtc attcttttca aacaagtgtt
     3721 tgtgtacctt ttgccaagct gtgggcatcg tgtgtgagta cagggtgctc agctcttcca
     3781 ccgtcatttt gaattgttca catgggtaat tggtcatgga aatgatcaga ttgaccttga
     3841 ttgactgtca ggcatggctt tgtttctggt ttcaatctgt tctcgttcct tgtaccggat
     3901 tattctactc ctgcaatgaa ccctgttgac accggattta gctcttgtcg gccttcgtgg
     3961 ggagctgttt gtgttaatat gagctactgc atgtaattct taaactgggc ttgtcacatt
     4021 gtattgtatt tttgtgatct gtaatgaaaa gaatctgtac tgcaagtaaa acctactccc
     4081 caaaaatgtg tggctttggg tctgcattaa acgctgtagt ccatgttcat gccaaaaatg
     4141 gctgggaacg tttgctttat ttacattcag tcagcgttgc tttcagatca cactttatcc
     4201 acacaggaaa gccagtcagc ctataatgaa gtagttatta aaataaatgt aatgaatatg
     4261 tctacaaagt atagtttagt ggtttatttt gctaaaatgc acatatattt gatataattt
     4321 agtttgagaa gttcagctag tttttctcct ttgtttgact ttgtcaattt ctatctggtt
     4381 tttaagggtc tgagcttagc ttgtgcatgc aaggttttgg gtttttttat tttttttttg
     4441 agcacagctt ttcacctttt aatttgttgg gtatttttct cttaataaga gaaatattgg
     4501 ccatcgattt ttacatataa tacaagtgtg tttttccagt acattggttc ctgtcccctc
     4561 tctgtgaact gtttgagtat tggaacagta tgtcttcaat aattcaatgt tactttgaga
     4621 tacatgtgtt aatataccct tagttattct tgaaataaaa ccagtctctt acgcttgcag
     4681 tgga
//
LOCUS       NM_001015052            1036 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens N-methylpurine DNA glycosylase (MPG), transcript
            variant 2, mRNA.
ACCESSION   NM_001015052
VERSION     NM_001015052.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1036)
  AUTHORS   Hamad SH, Brinkman MC, Tsai YH, Mellouk N, Cross K, Jaspers I, Clark
            PI and Granville CA.
  TITLE     Pilot Study to Detect Genes Involved in DNA Damage and Cancer in
            Humans: Potential Biomarkers of Exposure to E-Cigarette Aerosols
  JOURNAL   Genes (Basel) 12 (3), 448 (2021)
   PUBMED   33809907
  REMARK    GeneRIF: Pilot Study to Detect Genes Involved in DNA Damage and
            Cancer in Humans: Potential Biomarkers of Exposure to E-Cigarette
            Aerosols. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1036)
  AUTHORS   Thelen AZ and O'Brien PJ.
  TITLE     Recognition of 1,N2-ethenoguanine by alkyladenine DNA glycosylase is
            restricted by a conserved active-site residue
  JOURNAL   J Biol Chem 295 (6), 1685-1693 (2020)
   PUBMED   31882538
  REMARK    GeneRIF: Recognition of 1,N (2)-ethenoguanine by alkyladenine DNA
            glycosylase is restricted by a conserved active-site residue.
REFERENCE   3  (bases 1 to 1036)
  AUTHORS   Montaldo NP, Bordin DL, Brambilla A, Rosinger M, Fordyce Martin SL,
            Bjoras KO, Bradamante S, Aas PA, Furrer A, Olsen LC, Kunath N,
            Otterlei M, Saetrom P, Bjoras M, Samson LD and van Loon B.
  TITLE     Alkyladenine DNA glycosylase associates with transcription
            elongation to coordinate DNA repair with gene expression
  JOURNAL   Nat Commun 10 (1), 5460 (2019)
   PUBMED   31784530
  REMARK    GeneRIF: AAG binds to chromatin and forms complex with RNA
            polymerase (pol) II. This occurs through direct interaction with
            Elongator and results in transcriptional co-regulation. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 1036)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1036)
  AUTHORS   Wang Y, Liu X, Liu G, Wang X, Hu R and Liang X.
  TITLE     PIG11 over-expression predicts good prognosis and induces HepG2 cell
            apoptosis via reactive oxygen species-dependent mitochondrial
            pathway
  JOURNAL   Biomed Pharmacother 108, 435-442 (2018)
   PUBMED   30241046
  REMARK    GeneRIF: PIG11 may act as a candidate liver tumor suppressor.
REFERENCE   6  (bases 1 to 1036)
  AUTHORS   Saparbaev M and Laval J.
  TITLE     Excision of hypoxanthine from DNA containing dIMP residues by the
            Escherichia coli, yeast, rat, and human alkylpurine DNA glycosylases
  JOURNAL   Proc Natl Acad Sci U S A 91 (13), 5873-5877 (1994)
   PUBMED   8016081
  REMARK    GeneRIF: The human alkyl-N-purine-DNA glycosylase (ANPG or MPG)
            excises with high efficiency hypoxanthine residues, deamination
            product of adenine, when present in DNA. ANPG is by far the most
            efficient hypoxanthine-DNA glycosylase of all the enzymes tested.
REFERENCE   7  (bases 1 to 1036)
  AUTHORS   Kielman MF, Smits R, Devi TS, Fodde R and Bernini LF.
  TITLE     Homology of a 130-kb region enclosing the alpha-globin gene cluster,
            the alpha-locus controlling region, and two non-globin genes in
            human and mouse
  JOURNAL   Mamm Genome 4 (6), 314-323 (1993)
   PUBMED   8318735
REFERENCE   8  (bases 1 to 1036)
  AUTHORS   Samson L, Derfler B, Boosalis M and Call K.
  TITLE     Cloning and characterization of a 3-methyladenine DNA glycosylase
            cDNA from human cells whose gene maps to chromosome 16
  JOURNAL   Proc Natl Acad Sci U S A 88 (20), 9127-9131 (1991)
   PUBMED   1924375
REFERENCE   9  (bases 1 to 1036)
  AUTHORS   Chakravarti D, Ibeanu GC, Tano K and Mitra S.
  TITLE     Cloning and expression in Escherichia coli of a human cDNA encoding
            the DNA repair protein N-methylpurine-DNA glycosylase
  JOURNAL   J Biol Chem 266 (24), 15710-15715 (1991)
   PUBMED   1874728
REFERENCE   10  (bases 1 to 1036)
  AUTHORS   O'Connor TR and Laval J.
  TITLE     Human cDNA expressing a functional DNA glycosylase excising
            3-methyladenine and 7-methylguanine
  JOURNAL   Biochem Biophys Res Commun 176 (3), 1170-1177 (1991)
   PUBMED   1645538
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.264888.1,
            SRR7346977.427904.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000356432.8/ ENSP00000348809.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM796301.1 and BC014991.1.
            On Jun 2, 2019 this sequence version replaced NM_001015052.2.
            Transcript Variant: This variant (2) lacks an exon in the 5' region
            and initiates translation at an alternate start codon, compared to
            variant 1. The encoded isoform (b) is shorter and has a distinct
            N-terminus, compared to isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1036
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1036
                     /gene="MPG"
                     /gene_synonym="AAG; ADPG; anpg; APNG; CRA36.1; MDG; Mid1;
                     PIG11; PIG16"
                     /note="N-methylpurine DNA glycosylase"
                     /db_xref="GeneID:4350"
                     /db_xref="HGNC:HGNC:7211"
                     /db_xref="MIM:156565"
     CDS             86..967
                     /gene="MPG"
                     /gene_synonym="AAG; ADPG; anpg; APNG; CRA36.1; MDG; Mid1;
                     PIG11; PIG16"
                     /EC_number="3.2.2.21"
                     /note="isoform b is encoded by transcript variant 2;
                     proliferation-inducing protein 11; proliferation-inducing
                     protein 16; N-methylpurine-DNA glycosylase, MPG; 3' end of
                     the Mid1 gene, localized 68 kb upstream the humanzeta
                     globin gene on 16p; CRA36.1 (3-methyl-adenine DNA
                     glycosylase); 3-alkyladenine DNA glycosylase;
                     3-methyladenine DNA glycosidase"
                     /codon_start=1
                     /product="DNA-3-methyladenine glycosylase isoform b"
                     /protein_id="NP_001015052.1"
                     /db_xref="CCDS:CCDS32345.1"
                     /db_xref="GeneID:4350"
                     /db_xref="HGNC:HGNC:7211"
                     /db_xref="MIM:156565"
                     /translation="MPARSGAQFCRRMGQKKQRPARAGQPHSSSDAAQAPAEQPHSSSD
                     AAQAPCPRERCLGPPTTPGPYRSIYFSSPKGHLTRLGLEFFDQPAVPLARAFLGQVLVR
                     RLPNGTELRGRIVETEAYLGPEDEAAHSRGGRQTPRNRGMFMKPGTLYVYIIYGMYFCM
                     NISSQGDGACVLLRALEPLEGLETMRQLRSTLRKGTASRVLKDRELCSGPSKLCQALAI
                     NKSFDQRDLAQDEAVWLERGPLEPSEPAVVAAARVGVGHAGEWARKPLRFYVRGSPWVS
                     VVDRVAEQDTQA"
     regulatory      1013..1018
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPG"
                     /gene_synonym="AAG; ADPG; anpg; APNG; CRA36.1; MDG; Mid1;
                     PIG11; PIG16"
                     /note="hexamer: AATAAA"
     polyA_site      1036
                     /gene="MPG"
                     /gene_synonym="AAG; ADPG; anpg; APNG; CRA36.1; MDG; Mid1;
                     PIG11; PIG16"
                     /note="major polyA site"
ORIGIN
        1 ggtcctaggg gtgcttccgt ggtcggcggc tgctgggctc cgcgccgggg tccgagtccc
       61 acgaagcccc ggcccgagcc gccggatgcc cgcgcgcagc ggggcccagt tttgccgacg
      121 gatggggcaa aagaagcagc gaccagctag agcagggcag ccacacagct cgtccgacgc
      181 agcccaggca cctgcagagc agccacacag ctcgtccgat gcagcccagg caccttgccc
      241 cagggagcgc tgcttgggac cgcccaccac tccgggccca taccgcagca tctatttctc
      301 aagcccaaag ggccacctta cccgactggg gttggagttc ttcgaccagc cggcagtccc
      361 cctggcccgg gcatttctgg gacaggtcct agtccggcga cttcctaatg gcacagaact
      421 ccgaggccgc atcgtggaga ccgaggcata cctggggcca gaggatgaag ccgcccactc
      481 aaggggtggc cggcagaccc cccgcaaccg aggcatgttc atgaagccgg ggaccctgta
      541 cgtgtacatc atttacggca tgtacttctg catgaacatc tccagccagg gggacggggc
      601 ttgcgtcttg ctgcgagcac tggagcccct ggaaggtctg gagaccatgc gtcagcttcg
      661 cagcaccctc cggaaaggca ccgccagccg tgtcctcaag gaccgcgagc tctgcagtgg
      721 cccctccaag ctgtgccagg ccctggccat caacaagagc tttgaccaga gggacctggc
      781 acaggatgaa gctgtatggc tggagcgtgg tcccctggag cccagtgagc cggctgtagt
      841 ggcagcagcc cgggtgggcg tcggccatgc aggggagtgg gcccggaaac ccctccgctt
      901 ctatgtccgg ggcagcccct gggtcagtgt ggtcgacaga gtggctgagc aggacacaca
      961 ggcctgagca aagggcctgc ccagacaaga ttttttaatt gtttaaaaac cgaataaatg
     1021 ttttatttct agaaaa
//
LOCUS       NM_001015055            2221 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA.
ACCESSION   NM_001015055
VERSION     NM_001015055.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2221)
  AUTHORS   Zhou J, Zhang Y, Qi Y, Yu D, Shao Q and Liang J.
  TITLE     MicroRNA-152 inhibits tumor cell growth by directly targeting RTKN
            in hepatocellular carcinoma
  JOURNAL   Oncol Rep 37 (2), 1227-1234 (2017)
   PUBMED   27922690
  REMARK    GeneRIF: RTKN is upregulated in hepatocellular
            carcinoma.MicroRNA-152 inhibits tumor cell growth by directly
            targeting RTKN in hepatocellular carcinoma.
REFERENCE   2  (bases 1 to 2221)
  AUTHORS   Li B, Chen P, Chang Y, Qi J, Fu H and Guo H.
  TITLE     Let-7a inhibits tumor cell growth and metastasis by directly
            targeting RTKN in human colon cancer
  JOURNAL   Biochem Biophys Res Commun 478 (2), 739-745 (2016)
   PUBMED   27498032
  REMARK    GeneRIF: Let-7a microRNA inhibits tumor cell growth and metastasis
            by directly targeting RTKN in human colon cancer.
REFERENCE   3  (bases 1 to 2221)
  AUTHORS   Zhang W, Liang Z and Li J.
  TITLE     Inhibition of rhotekin exhibits antitumor effects in lung cancer
            cells
  JOURNAL   Oncol Rep 35 (5), 2529-2534 (2016)
   PUBMED   26935528
  REMARK    GeneRIF: The RTKN protein is associated with lung cancer in clinic
            samples and exerts anticancer activity in lung adenocarcinoma cells
            through inhibiting cell cycle progression and the DNA replication
            machinery.
REFERENCE   4  (bases 1 to 2221)
  AUTHORS   Qu GQ, Lu YM, Liu YF, Liu Y, Chen WX, Liao XH and Kong WM.
  TITLE     Effect of RTKN on progression and metastasis of colon cancer in
            vitro
  JOURNAL   Biomed Pharmacother 74, 117-123 (2015)
   PUBMED   26349972
  REMARK    GeneRIF: RTKN could affect the proliferation and metastasis of colon
            cancer by reducing expression of MCM2/3/5, CDK1/2 and PCNA
REFERENCE   5  (bases 1 to 2221)
  AUTHORS   Kutys ML and Yamada KM.
  TITLE     An extracellular-matrix-specific GEF-GAP interaction regulates Rho
            GTPase crosstalk for 3D collagen migration
  JOURNAL   Nat Cell Biol 16 (9), 909-917 (2014)
   PUBMED   25150978
REFERENCE   6  (bases 1 to 2221)
  AUTHORS   Katoh H and Negishi M.
  TITLE     RhoG activates Rac1 by direct interaction with the Dock180-binding
            protein Elmo
  JOURNAL   Nature 424 (6947), 461-464 (2003)
   PUBMED   12879077
REFERENCE   7  (bases 1 to 2221)
  AUTHORS   Sharfe N, Freywald A, Toro A, Dadi H and Roifman C.
  TITLE     Ephrin stimulation modulates T cell chemotaxis
  JOURNAL   Eur J Immunol 32 (12), 3745-3755 (2002)
   PUBMED   12516569
REFERENCE   8  (bases 1 to 2221)
  AUTHORS   Reynaud C, Fabre S and Jalinot P.
  TITLE     The PDZ protein TIP-1 interacts with the Rho effector rhotekin and
            is involved in Rho signaling to the serum response element
  JOURNAL   J Biol Chem 275 (43), 33962-33968 (2000)
   PUBMED   10940294
REFERENCE   9  (bases 1 to 2221)
  AUTHORS   Fu Q, Yu L, Liu Q, Zhang J, Zhang H and Zhao S.
  TITLE     Molecular cloning, expression characterization, and mapping of a
            novel putative inhibitor of rho GTPase activity, RTKN, to
            D2S145-D2S286
  JOURNAL   Genomics 66 (3), 328-332 (2000)
   PUBMED   10873388
REFERENCE   10  (bases 1 to 2221)
  AUTHORS   Jang W, Weber JS, Harkins EB and Meisler MH.
  TITLE     Localization of the rhotekin gene RTKN on the physical maps of mouse
            chromosome 6 and human chromosome 2p13 and exclusion as a candidate
            for mnd2 and LGMD2B
  JOURNAL   Genomics 40 (3), 506-507 (1997)
   PUBMED   9073523
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1193810.1,
            SRR7346977.966936.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000272430.10/ ENSP00000272430.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005041.2, BG470092.1,
            BC004558.2 and BQ574374.1.
            On May 17, 2019 this sequence version replaced NM_001015055.1.
            Summary: This gene encodes a scaffold protein that interacts with
            GTP-bound Rho proteins. Binding of this protein inhibits the GTPase
            activity of Rho proteins. This protein may interfere with the
            conversion of active, GTP-bound Rho to the inactive GDP-bound form
            by RhoGAP. Rho proteins regulate many important cellular processes,
            including cytokinesis, transcription, smooth muscle contraction,
            cell growth and transformation. Dysregulation of the Rho signal
            transduction pathway has been implicated in many forms of cancer.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2221
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.1"
     gene            1..2221
                     /gene="RTKN"
                     /gene_synonym="RTKN-1"
                     /note="rhotekin"
                     /db_xref="GeneID:6242"
                     /db_xref="HGNC:HGNC:10466"
                     /db_xref="MIM:602288"
     CDS             122..1813
                     /gene="RTKN"
                     /gene_synonym="RTKN-1"
                     /note="isoform a is encoded by transcript variant 1"
                     /codon_start=1
                     /product="rhotekin isoform a"
                     /protein_id="NP_001015055.1"
                     /db_xref="CCDS:CCDS33226.1"
                     /db_xref="GeneID:6242"
                     /db_xref="HGNC:HGNC:10466"
                     /db_xref="MIM:602288"
                     /translation="MFSRNHRSRVTVARGSALEMEFKRGRFRLSLFSDLPEDTELQRKL
                     DHEIRMREGACKLLAACSQREQALEATKSLLVCNSRILSYMGELQRRKEAQVLGKTSRR
                     PSDSGPPAERSPCRGRVCISDLRIPLMWKDTEYFKNKGDLHRWAVFLLLQLGEHIQDTE
                     MILVDRTLTDISFQSNVLFAEAGPDFELRLELYGACVEEEGALTGGPKRLATKLSSSLG
                     RSSGRRVRASLDSAGGSGSSPILLPTPVVGGPRYHLLAHTTLTLAAVQDGFRTHDLTLA
                     SHEENPAWLPLYGSVCCRLAAQPLCMTQPTASGTLRVQQAGEMQNWAQVHGVLKGTNLF
                     CYRQPEDADTGEEPLLTIAVNKETRVRAGELDQALGRPFTLSISNQYGDDEVTHTLQTE
                     SREALQSWMEALWQLFFDMSQWKQCCDEIMKIETPAPRKPPQALAKQGSLYHEMAIEPL
                     DDIAAVTDILTQREGARLETPPPWLAMFTDQPALPNPCSPASVAPAPDWTHPLPWGRPR
                     TFSLDAVPPDHSPRARSVAPLPPQRSPRTRGLCSKGQPRTWLQSPV"
     misc_feature    161..163
                     /gene="RTKN"
                     /gene_synonym="RTKN-1"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q9BST9.2); methylation site"
     misc_feature    209..211
                     /gene="RTKN"
                     /gene_synonym="RTKN-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BST9.2); phosphorylation site"
     misc_feature    407..469
                     /gene="RTKN"
                     /gene_synonym="RTKN-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BST9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    437..439
                     /gene="RTKN"
                     /gene_synonym="RTKN-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BST9.2); phosphorylation site"
     misc_feature    809..811
                     /gene="RTKN"
                     /gene_synonym="RTKN-1"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q8C6B2; propagated from
                     UniProtKB/Swiss-Prot (Q9BST9.2); methylation site"
     misc_feature    815..817
                     /gene="RTKN"
                     /gene_synonym="RTKN-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BST9.2); phosphorylation site"
     misc_feature    1673..1810
                     /gene="RTKN"
                     /gene_synonym="RTKN-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BST9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1679..1681
                     /gene="RTKN"
                     /gene_synonym="RTKN-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BST9.2); phosphorylation site"
     misc_feature    1706..1708
                     /gene="RTKN"
                     /gene_synonym="RTKN-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BST9.2); phosphorylation site"
     misc_feature    1748..1750
                     /gene="RTKN"
                     /gene_synonym="RTKN-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BST9.2); phosphorylation site"
     regulatory      2154..2159
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RTKN"
                     /gene_synonym="RTKN-1"
                     /note="hexamer: ATTAAA"
     polyA_site      2173
                     /gene="RTKN"
                     /gene_synonym="RTKN-1"
                     /note="major polyA site"
ORIGIN
        1 gcagcgggag attcccggcc ggactggcgg acgagcgtcg agagacagaa gccgaggaga
       61 ggaggctaag ccgggcggcg cggggagcgc actgagcagg caaagtcgca gggccgccag
      121 catgttctcc cgaaaccacc ggagccgggt caccgtggcc aggggctccg ccctggagat
      181 ggagttcaaa cgcggccgct tccgactcag cctcttcagc gacctgcccg aggacacgga
      241 gttgcagagg aagctagacc atgagatccg gatgagggaa ggggcctgta agctgctggc
      301 agcctgctcc cagcgagagc aggctctgga ggccaccaag agcctgctag tgtgcaacag
      361 ccgcatcctc agctacatgg gcgagctgca gcggcgcaag gaggcgcagg tgctggggaa
      421 gacaagccgg cggccttctg acagtggccc gcccgctgag cgctccccct gccgcggccg
      481 ggtctgcatc tctgacctcc ggattccact catgtggaag gacacagaat atttcaagaa
      541 caaaggtgac ttgcaccgct gggctgtgtt cctgctgctg cagctggggg aacacatcca
      601 ggacacagag atgatcctag tggacaggac cctcacagac atctcctttc agagcaatgt
      661 gctcttcgct gaggcggggc cagactttga actgcggtta gagctgtatg gggcctgtgt
      721 ggaagaagag ggggccctga ctggcggccc caagaggctt gccaccaaac tcagcagctc
      781 cctgggccgc tcctcaggga ggcgtgtccg ggcatcgctg gacagtgctg ggggttcagg
      841 gagcagtccc atcttgctcc ccaccccagt tgttggtggt cctcgttacc acctcttggc
      901 tcacaccaca ctcaccctgg cagcagtgca agatggattc cgcacacatg acctcaccct
      961 tgccagtcat gaggagaacc ctgcctggct gcccctttat ggtagcgtgt gttgccgtct
     1021 ggcagctcag cctctctgca tgactcagcc cactgcaagt ggtaccctca gggtgcagca
     1081 agctggggag atgcagaact gggcacaagt gcatggagtt ctgaaaggca caaacctctt
     1141 ctgttaccgg caacctgagg atgcagacac tggggaagag ccgctgctta ctattgctgt
     1201 caacaaggag actcgagtcc gggcagggga gctggaccag gctctaggac ggcccttcac
     1261 cctaagcatc agtaaccagt atggggatga tgaggtgaca cacacccttc agacagaaag
     1321 tcgggaagca ctgcagagct ggatggaggc tctgtggcag cttttctttg acatgagcca
     1381 atggaagcag tgctgtgatg aaatcatgaa aattgaaact cctgctcccc ggaaaccacc
     1441 ccaagcactg gcaaagcagg ggtccttgta ccatgagatg gctattgagc cgctggatga
     1501 catcgcagcg gtgacagaca tcctgaccca gcgggagggc gcaaggctgg agacaccccc
     1561 accctggctg gcaatgttta cagaccagcc tgccctgcct aacccctgct cgcctgcctc
     1621 agtggcccca gccccagact ggacccaccc cctgccctgg gggagacccc gaaccttttc
     1681 cctggatgct gtccccccag accactcccc tagggctcgc tcggttgccc ccctcccacc
     1741 tcagcgatcc ccacggacca gaggcctctg cagcaaaggc caacctcgca cttggctcca
     1801 gtcaccagtg tgagagagaa aggtgctggc ataggatctg cccagaagag aaaatgaccc
     1861 atgcgcagtt gggctctgga tacggcgctg tctatagcaa gttggccagt ctggcctcct
     1921 gttcctctgc tggacctggg gtaggctgca ggggtgggca gaagcccctc ttaaattgtg
     1981 gttgccatgg taccgaggga ctcattcctg gggctcgctg ggacctccct aaacccttcc
     2041 tggaagaaaa ctggaaccaa ctctgcccta cctccctgca ctaaccagct ttgaggatgg
     2101 cactgaagaa cccttggagc aaacatacct cccttgtgac tcccacatca accattaaag
     2161 ttatttaaca gcagccttca cctggctcct gaggacaggg tgcctctctc tgcctggtct
     2221 a
//
LOCUS       NM_001015072             995 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens UFM1 specific peptidase 1 (inactive) (UFSP1), mRNA.
ACCESSION   NM_001015072
VERSION     NM_001015072.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 995)
  AUTHORS   Millrine D, Cummings T, Matthews SP, Peter JJ, Magnussen HM, Lange
            SM, Macartney T, Lamoliatte F, Knebel A and Kulathu Y.
  TITLE     Human UFSP1 is an active protease that regulates UFM1 maturation and
            UFMylation
  JOURNAL   Cell Rep 40 (5), 111168 (2022)
   PUBMED   35926457
  REMARK    GeneRIF: Human UFSP1 is an active protease that regulates UFM1
            maturation and UFMylation.
REFERENCE   2  (bases 1 to 995)
  AUTHORS   Liang Q, Jin Y, Xu S, Zhou J, Mao J, Ma X, Wang M and Cong YS.
  TITLE     Human UFSP1 translated from an upstream near-cognate initiation
            codon functions as an active UFM1-specific protease
  JOURNAL   J Biol Chem 298 (6), 102016 (2022)
   PUBMED   35525273
  REMARK    GeneRIF: Human UFSP1 translated from an upstream near-cognate
            initiation codon functions as an active UFM1-specific protease.
REFERENCE   3  (bases 1 to 995)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 995)
  AUTHORS   Huang J, Sabater-Lleal M, Asselbergs FW, Tregouet D, Shin SY, Ding
            J, Baumert J, Oudot-Mellakh T, Folkersen L, Johnson AD, Smith NL,
            Williams SM, Ikram MA, Kleber ME, Becker DM, Truong V, Mychaleckyj
            JC, Tang W, Yang Q, Sennblad B, Moore JH, Williams FM, Dehghan A,
            Silbernagel G, Schrijvers EM, Smith S, Karakas M, Tofler GH,
            Silveira A, Navis GJ, Lohman K, Chen MH, Peters A, Goel A, Hopewell
            JC, Chambers JC, Saleheen D, Lundmark P, Psaty BM, Strawbridge RJ,
            Boehm BO, Carter AM, Meisinger C, Peden JF, Bis JC, McKnight B,
            Ohrvik J, Taylor K, Franzosi MG, Seedorf U, Collins R,
            Franco-Cereceda A, Syvanen AC, Goodall AH, Yanek LR, Cushman M,
            Muller-Nurasyid M, Folsom AR, Basu S, Matijevic N, van Gilst WH,
            Kooner JS, Hofman A, Danesh J, Clarke R, Meigs JB, Kathiresan S,
            Reilly MP, Klopp N, Harris TB, Winkelmann BR, Grant PJ, Hillege HL,
            Watkins H, Spector TD, Becker LC, Tracy RP, Marz W, Uitterlinden AG,
            Eriksson P, Cambien F, Morange PE, Koenig W, Soranzo N, van der
            Harst P, Liu Y, O'Donnell CJ and Hamsten A.
  CONSRTM   DIAGRAM Consortium; CARDIoGRAM Consortium; C4D Consortium;
            CARDIOGENICS Consortium
  TITLE     Genome-wide association study for circulating levels of PAI-1
            provides novel insights into its regulation
  JOURNAL   Blood 120 (24), 4873-4881 (2012)
   PUBMED   22990020
REFERENCE   5  (bases 1 to 995)
  AUTHORS   Eijgelsheim M, Newton-Cheh C, Sotoodehnia N, de Bakker PI, Muller M,
            Morrison AC, Smith AV, Isaacs A, Sanna S, Dorr M, Navarro P,
            Fuchsberger C, Nolte IM, de Geus EJ, Estrada K, Hwang SJ, Bis JC,
            Ruckert IM, Alonso A, Launer LJ, Hottenga JJ, Rivadeneira F,
            Noseworthy PA, Rice KM, Perz S, Arking DE, Spector TD, Kors JA,
            Aulchenko YS, Tarasov KV, Homuth G, Wild SH, Marroni F, Gieger C,
            Licht CM, Prineas RJ, Hofman A, Rotter JI, Hicks AA, Ernst F, Najjar
            SS, Wright AF, Peters A, Fox ER, Oostra BA, Kroemer HK, Couper D,
            Volzke H, Campbell H, Meitinger T, Uda M, Witteman JC, Psaty BM,
            Wichmann HE, Harris TB, Kaab S, Siscovick DS, Jamshidi Y,
            Uitterlinden AG, Folsom AR, Larson MG, Wilson JF, Penninx BW,
            Snieder H, Pramstaller PP, van Duijn CM, Lakatta EG, Felix SB,
            Gudnason V, Pfeufer A, Heckbert SR, Stricker BH, Boerwinkle E and
            O'Donnell CJ.
  TITLE     Genome-wide association analysis identifies multiple loci related to
            resting heart rate
  JOURNAL   Hum Mol Genet 19 (19), 3885-3894 (2010)
   PUBMED   20639392
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   6  (bases 1 to 995)
  AUTHORS   Ha BH, Ahn HC, Kang SH, Tanaka K, Chung CH and Kim EE.
  TITLE     Structural basis for Ufm1 processing by UfSP1
  JOURNAL   J Biol Chem 283 (21), 14893-14900 (2008)
   PUBMED   18321862
REFERENCE   7  (bases 1 to 995)
  AUTHORS   Kang SH, Kim GR, Seong M, Baek SH, Seol JH, Bang OS, Ovaa H, Tatsumi
            K, Komatsu M, Tanaka K and Chung CH.
  TITLE     Two novel ubiquitin-fold modifier 1 (Ufm1)-specific proteases, UfSP1
            and UfSP2
  JOURNAL   J Biol Chem 282 (8), 5256-5262 (2007)
   PUBMED   17182609
REFERENCE   8  (bases 1 to 995)
  AUTHORS   Wilson MD, Riemer C, Martindale DW, Schnupf P, Boright AP, Cheung
            TL, Hardy DM, Schwartz S, Scherer SW, Tsui LC, Miller W and Koop BF.
  TITLE     Comparative analysis of the gene-dense ACHE/TFR2 region on human
            chromosome 7q22 with the orthologous region on mouse chromosome 5
  JOURNAL   Nucleic Acids Res 29 (6), 1352-1365 (2001)
   PUBMED   11239002
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AK292467.1, BC067904.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000388761.4/ ENSP00000373413.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB073745.1, BC067904.1, BC017456.2 and AC011895.4.
            On Nov 22, 2018 this sequence version replaced NM_001015072.3.
            Summary: This gene encodes a protein that is similar to other
            Ufm1-specific proteases. Studies in mouse determined that Ufsp1
            releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated
            complexes which also makes it into an active form. Because the
            human UFSP1 protein is shorter on the N-terminus and lacks a
            conserved Cys active site, it is predicted to be
            non-functional.[provided by RefSeq, Nov 2009].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..995
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..995
                     /gene="UFSP1"
                     /gene_synonym="UFSP"
                     /note="UFM1 specific peptidase 1 (inactive)"
                     /db_xref="GeneID:402682"
                     /db_xref="HGNC:HGNC:33821"
                     /db_xref="MIM:611481"
     misc_feature    169..171
                     /gene="UFSP1"
                     /gene_synonym="UFSP"
                     /note="upstream in-frame stop codon"
     CDS             445..873
                     /gene="UFSP1"
                     /gene_synonym="UFSP"
                     /note="UFM1-specific peptidase 1 (non-functional)"
                     /codon_start=1
                     /product="inactive Ufm1-specific protease 1"
                     /protein_id="NP_001015072.2"
                     /db_xref="CCDS:CCDS34710.1"
                     /db_xref="GeneID:402682"
                     /db_xref="HGNC:HGNC:33821"
                     /db_xref="MIM:611481"
                     /translation="MGDKPPGFRGSRDWIGCVEASLCLAHFGGPQGRLCHVPRGVGLHG
                     ELERLYSHFAGGGGPVMVGGDADARSKALLGVCVGSGTEAYVLVLDPHYWGTPKSPSEL
                     QAAGWVGWQEVSAAFDPNSFYNLCLTSLSSQQQQRTLD"
     regulatory      970..975
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UFSP1"
                     /gene_synonym="UFSP"
                     /note="hexamer: AATAAA"
     polyA_site      995
                     /gene="UFSP1"
                     /gene_synonym="UFSP"
                     /note="major polyA site"
ORIGIN
        1 attgtgggag ctcctcggtc ggtgccggtc ggtggctgcc tattgcggcc tgcggtgatc
       61 aacgaggccc ggggagcgcg tccccagtct gcgcgccggt cctgcggcag ctggcccaag
      121 acccggagcc gaaaggaagt gttggagcct gaggtcgctc cgcgccgcta ggaggacgct
      181 gtgcctggcc tgggacctcc gctcccgccc accgccctgg agccgctgag ggacgtccac
      241 gtgggcctgt ccccgccgag ccgcggccct gtccgcctgg cgctgctctc gggccactac
      301 ctctactacc actacggctg cgacggcctg gacgaccgcg gctggggctg cggctaccgc
      361 actctgcaga cgctgtgctc gtggccagag ggccagcccg cgggcgtacc tggactggcc
      421 gccgtacagg cggccctgga ggacatgggc gacaagcccc ccggcttccg gggctcccgg
      481 gactggatcg gctgcgtgga ggccagcctc tgcctcgctc acttcggagg gccccaggga
      541 cgcctctgcc acgtaccccg gggagtgggg ctgcacgggg agctggagag gctttactcg
      601 cacttcgcag ggggtggggg cccagtcatg gttggggggg acgcagatgc caggtccaag
      661 gccttgctgg gagtctgcgt agggtcaggc acggaagcct atgtcctggt attggaccct
      721 cactactggg gcactccaaa aagccccagt gaactacagg ctgctgggtg ggtgggctgg
      781 caagaggtga gtgcagcctt tgaccccaac tccttctaca acctgtgctt gaccagcctt
      841 agctcccaac agcagcagcg caccttggac tgaggacgaa gttacagaac tgagattctc
      901 gggtcccaga cacgcaccta tgtacctccc actggtgtcc ctgcaaagcc tggcgctttt
      961 gacatcaata ataaaagtgg cagggctgag caaca
//
LOCUS       NM_001015877            4430 bp    mRNA    linear   PRI 03-APR-2023
DEFINITION  Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1,
            mRNA.
ACCESSION   NM_001015877
VERSION     NM_001015877.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4430)
  AUTHORS   Gao S, Zhang W, Ma J and Ni X.
  TITLE     PHF6 recruits BPTF to promote HIF-dependent pathway and progression
            in YAP-high breast cancer
  JOURNAL   J Transl Med 21 (1), 220 (2023)
   PUBMED   36967443
  REMARK    GeneRIF: PHF6 recruits BPTF to promote HIF-dependent pathway and
            progression in YAP-high breast cancer. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 4430)
  AUTHORS   Wang X, Fang A, Peng Y, Yu J, Yu C, Xie J, Zheng Y, Song L, Li P, Li
            J, Kang X, Lin Y and Li W.
  TITLE     PHF6 promotes the progression of endometrial carcinoma by increasing
            cancer cells growth and decreasing T-cell infiltration
  JOURNAL   J Cell Mol Med 27 (5), 609-621 (2023)
   PUBMED   36756714
  REMARK    GeneRIF: PHF6 promotes the progression of endometrial carcinoma by
            increasing cancer cells growth and decreasing T-cell infiltration.
REFERENCE   3  (bases 1 to 4430)
  AUTHORS   Huang K, Wang L, Zheng Y, Yue C, Xu X, Chen H, Huang R and Li Y.
  TITLE     PHF6 mutation is associated with poor outcome in acute myeloid
            leukaemia
  JOURNAL   Cancer Med 12 (3), 2795-2804 (2023)
   PUBMED   36176187
  REMARK    GeneRIF: PHF6 mutation is associated with poor outcome in acute
            myeloid leukaemia.
REFERENCE   4  (bases 1 to 4430)
  AUTHORS   Eisa YA, Guo Y and Yang FC.
  TITLE     The Role of PHF6 in Hematopoiesis and Hematologic Malignancies
  JOURNAL   Stem Cell Rev Rep 19 (1), 67-75 (2023)
   PUBMED   36008597
  REMARK    GeneRIF: The Role of PHF6 in Hematopoiesis and Hematologic
            Malignancies. Review article
REFERENCE   5  (bases 1 to 4430)
  AUTHORS   Gao X, Fan S and Zhang X.
  TITLE     MiR-1306-5p promotes cell proliferation and inhibits cell apoptosis
            in acute myeloid leukemia by downregulating PHF6 expression
  JOURNAL   Leuk Res 120, 106906 (2022)
   PUBMED   35780573
  REMARK    GeneRIF: MiR-1306-5p promotes cell proliferation and inhibits cell
            apoptosis in acute myeloid leukemia by downregulating PHF6
            expression.
REFERENCE   6  (bases 1 to 4430)
  AUTHORS   Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, Smith
            JC, Kerr B, Schelley S, Hoyme HE, De Vries BB, Kleefstra T, Grompe
            M, Cox B, Gecz J and Partington M.
  TITLE     The clinical picture of the Borjeson-Forssman-Lehmann syndrome in
            males and heterozygous females with PHF6 mutations
  JOURNAL   Clin Genet 65 (3), 226-232 (2004)
   PUBMED   14756673
  REMARK    GeneRIF: A study of 9 families with PHF6 muations revealed that the
            phenotype is milder and more variable than previously described and
            evolves with age; seven missense mutations and two truncation
            mutations were identifed
REFERENCE   7  (bases 1 to 4430)
  AUTHORS   Birrell G, Lampe A, Richmond S, Bruce SN, Gecz J, Lower K, Wright M
            and Cheetham TD.
  TITLE     Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone
            deficiency
  JOURNAL   J Pediatr Endocrinol Metab 16 (9), 1295-1300 (2003)
   PUBMED   14714754
  REMARK    GeneRIF: 'The gene, PHF6, implicated in the
            Borjeson-Forssman-Lehmann syndrome has recently been identified.' p.
            1295
REFERENCE   8  (bases 1 to 4430)
  AUTHORS   Dattani MT.
  TITLE     Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due
            to mutation in a novel gene
  JOURNAL   J Pediatr Endocrinol Metab 16 (9), 1207-1209 (2003)
   PUBMED   14714741
  REMARK    GeneRIF: '...mutations within a novel widely expressed zinc-finger
            gene (PHF6) have been described in nine families with
            Borjesson-Forssman-Lehmann syndrome...' p. 1208
REFERENCE   9  (bases 1 to 4430)
  AUTHORS   Baumstark A, Lower KM, Sinkus A, Andriuskeviciute I, Jurkeniene L,
            Gecz J and Just W.
  TITLE     Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann
            syndrome
  JOURNAL   J Med Genet 40 (4), e50 (2003)
   PUBMED   12676923
REFERENCE   10  (bases 1 to 4430)
  AUTHORS   Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK,
            Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK,
            Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B,
            Grompe M, Ross S, Thomas P, Mulley JC and Gecz J.
  TITLE     Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann
            syndrome
  JOURNAL   Nat Genet 32 (4), 661-665 (2002)
   PUBMED   12415272
  REMARK    GeneRIF: A novel, widely expressed zinc-finger (plant
            homeodomain[PHD]-like finger) gene had 8 different missense and
            truncation mutations in 7 familial and 2 sporadic cases of BFLS (p.
            661).
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.46990.1,
            SRR7346977.1907447.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370803.8/ ENSP00000359839.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY157622.1, CF242973.1,
            BG122271.1, AB058726.1 and AW297001.1.
            On Jun 2, 2019 this sequence version replaced NM_001015877.1.
            Summary: This gene is a member of the plant homeodomain (PHD)-like
            finger (PHF) family. It encodes a protein with two PHD-type zinc
            finger domains, indicating a potential role in transcriptional
            regulation, that localizes to the nucleolus. Mutations affecting
            the coding region of this gene or the splicing of the transcript
            have been associated with Borjeson-Forssman-Lehmann syndrome
            (BFLS), a disorder characterized by cognitive disability, epilepsy,
            hypogonadism, hypometabolism, obesity, swelling of subcutaneous
            tissue of the face, narrow palpebral fissures, and large ears.
            Alternate splicing results in multiple transcript variants,
            encoding different isoforms. [provided by RefSeq, Jun 2010].
            Transcript Variant: This variant (1, also called the 'PHF6a'
            variant) represents the shortest transcript and encodes the
            shortest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4430
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.2"
     gene            1..4430
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="PHD finger protein 6"
                     /db_xref="GeneID:84295"
                     /db_xref="HGNC:HGNC:18145"
                     /db_xref="MIM:300414"
     misc_feature    164..166
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="upstream in-frame stop codon"
     CDS             203..1300
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="isoform 1 is encoded by transcript variant 1;
                     PHD-like zinc finger protein; centromere protein 31"
                     /codon_start=1
                     /product="PHD finger protein 6 isoform 1"
                     /protein_id="NP_001015877.1"
                     /db_xref="CCDS:CCDS14639.1"
                     /db_xref="GeneID:84295"
                     /db_xref="HGNC:HGNC:18145"
                     /db_xref="MIM:300414"
                     /translation="MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKC
                     MLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGATIGCDVKTCHRTYH
                     YHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEADLEESFNEHELEPSSPKSKKKSR
                     KGRPRKTNFKGLSEDTRSTSSHGTDEMESSSYRDRSPHRSSPSDTRPKCGFCHVGEEEN
                     EARGKLHIFNAKKAAAHYKCMLFSSGTVQLTTTSRAEFGDFDIKTVLQEIKRGKRMKCT
                     LCSQPGATIGCEIKACVKTYHYHCGVQDKAKYIENMSRGIYKLYCKNHSGNDERDEEDE
                     ERESKSRGKVEIDQQQLTQQQLNGN"
     misc_feature    206..208
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8IWS0.1); acetylation site"
     misc_feature    239..250
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWS0.1);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     misc_feature    242..598
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWS0.1);
                     Region: Extended PHD1 domain (ePHD1).
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01146"
     misc_feature    587..601
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWS0.1);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     misc_feature    614..616
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IWS0.1);
                     phosphorylation site"
     misc_feature    617..835
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWS0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    635..637
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IWS0.1);
                     phosphorylation site"
     misc_feature    638..640
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8IWS0.1); phosphorylation site"
     misc_feature    665..667
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IWS0.1); phosphorylation site"
     misc_feature    671..709
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWS0.1);
                     Region: Nucleolar localization signal.
                     /evidence=ECO:0000255"
     misc_feature    749..751
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D4J7; propagated from
                     UniProtKB/Swiss-Prot (Q8IWS0.1); phosphorylation site"
     misc_feature    797..799
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IWS0.1); phosphorylation site"
     misc_feature    827..1192
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWS0.1);
                     Region: Extended PHD2 domain (ePHD2).
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01146"
     misc_feature    1190..1297
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IWS0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1274..1276
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (Q8IWS0.1); phosphorylation site"
     regulatory      4409..4414
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="hexamer: AATAAA"
     polyA_site      4430
                     /gene="PHF6"
                     /gene_synonym="BFLS; BORJ; CENP-31"
                     /note="major polyA site"
ORIGIN
        1 aagggcgctc cgcgagcccg tctctcctcg aatgaaagga aacaacctcc ggcgacagag
       61 ccccgctctc aggcactgct ggagaaccga gaccgacttc tttctcttta ccctcattgg
      121 cgcttctctc ctgcagtccg cctctgggcc ctgccgcatt tcttgagact taaagtggca
      181 ttctaaaggc aatttaaaaa tcatgtcaag ctcagttgaa cagaaaaaag ggcctacaag
      241 acagcgcaaa tgtggctttt gtaagtcaaa tagagacaag gaatgtggac agttactaat
      301 atctgaaaac cagaaggtgg cagcgcacca taagtgcatg ctcttttcat ctgctttggt
      361 atcatcacac tctgataatg aaagtcttgg tggattttct attgaagatg tccaaaagga
      421 aattaaaaga ggcacgaagc tgatgtgttc tttgtgccat tgtcctggag caacaattgg
      481 ttgtgatgtg aaaacatgtc acaggacata ccactaccac tgtgcattgc atgataaagc
      541 tcaaatacga gagaaacctt cacaaggaat ttacatggtc tattgccgaa aacacaagaa
      601 aactgcacat aactccgaag ctgatttaga agaaagtttt aatgaacatg aactggagcc
      661 ctcatcacct aaaagtaaaa agaaaagtcg caaaggaagg ccaagaaaaa ctaattttaa
      721 agggctgtca gaagatacca ggtccacatc ctcccatgga acagatgaaa tggaaagtag
      781 ttcctataga gataggtctc cacacagaag cagccctagt gacaccaggc ctaaatgtgg
      841 attttgccat gtaggggagg aagaaaatga agcacgagga aaactgcata tatttaatgc
      901 caagaaggca gctgcccatt ataagtgcat gttgttttct tctggcacag tccagctcac
      961 aacaacatca agagcagaat ttggagactt tgatattaaa actgtacttc aggagattaa
     1021 acgaggaaaa agaatgaaat gtacactttg cagtcagcct ggtgctacta ttggatgtga
     1081 aataaaagcc tgtgttaaga cttaccatta ccactgtgga gtacaagaca aagctaaata
     1141 cattgaaaat atgtcacgag gaatttacaa actatactgt aaaaatcata gtggaaatga
     1201 tgagagagat gaagaagatg aggaacgaga gagtaaaagc cgaggaaaag tagaaattga
     1261 tcagcaacaa ctaactcagc agcaacttaa tggaaactag gttcatggga cagagttaga
     1321 aaactgggaa tgaataagac atccataact actattcttt tttcactgtt ttctaaaatc
     1381 aaaaagggtt tgtaactttt tactgcccaa ctcttagatc cttcattgaa ctgcctaaaa
     1441 atgtcttgtt tgttttatga gccctcacta gaaggctgag tttgacatgt tgatattacg
     1501 tagctatagt ttgcagtttc tgggaagcaa ttgaaacact attaaccctg tgtatagtgt
     1561 caacagttaa agcagacgaa acgaagtaag ctatatttct ggactgaaca aagctctgct
     1621 gtttagagca tttaagtttg tttagtggat ccatactcaa aggaaagcat aagcaaattt
     1681 tcctttacaa tgcaaacatg ccactggtgg cagcacatgg taatttgtgg attttttttt
     1741 catactcaag taatggaggc tagaaatgaa gagaaccttc tttttctctt gactttgaca
     1801 gcacatgcta aaaatctctt ccaagaagta tgctaaagct tttcatttgg ttcctgttaa
     1861 agttgttctc actgaccagc atggactcag gcaactggta atgataagct atgagctcca
     1921 gtgcttttgc caaaattctc ttgacagcac acctcctctc tttccatgtt atacaaagga
     1981 cttctggcaa aatgattgag tccttcaagt ttaaactaac atttggcaac agcaaattaa
     2041 acgtttttaa gatgtaaaga aagggttacc gcttgctaag gacttcagac accatgtccg
     2101 aaacctgttc ctctcaagtg ccctgttgtg tggaacactt cacatattgg cgcacagtac
     2161 gtaaggaggt ctcatgtgct gtaggagtaa aaaagtcttt gcataaaaca gtatttattt
     2221 ttacttttgt gaccactatt ttagaaactt tatttaatat tttaatgttt tcagtcattg
     2281 ctttggttat ctataaaata ggcttttgtg ccctactttt cttcttgtag ggcttggtgg
     2341 tgttttatcg attgtcagaa ttgtttttga aagcctaaga acccagcttt ttagaaagga
     2401 ttttcacact ggcatttcta ggtagtgata ttttcttcca cttacctgct gaagcacatt
     2461 tatgcatttc tttatggcaa aaccaaataa ctttagttgt ggtctgcctg atactaccat
     2521 agcacctcag taccaagggg agggattttg actagttgaa ttattaagcc accacaataa
     2581 agcagatttt taaataagaa ataataatgt taacttgact gtacattgag atattctgca
     2641 gctgatagag cagcatttta aaaatgtaac aggtggaaaa ttacactgtg cttaatgact
     2701 gatttttttt taaactgcga gtcccttaag atcacgtttg tcaagtgtgt attcacacat
     2761 ttacttaaat caagggactc aatgcttgct tttattttaa ccatctttta ctatttttag
     2821 aaggaaacta gctttagtag tgggttgccc tgtatgtttt ctctttttgc tcttaatatg
     2881 ccattgggtt tttgtgtgta tgtgattttc aaaattcatg acttgaagtg caaggacaga
     2941 tctagatgtt tgtttaccaa gctatgtgac ttctcccaaa ggatctgtac tttctttcct
     3001 tacaacagct tgaaaatcat tattttaaaa tccttaaatc actgtgtcta gatcattttt
     3061 tacattgtgt gccatagact tacccatggg acaacagagc tccttcattt ttggacaact
     3121 actgtaatca tttttttttt aggaaaaatg gaaggtgccg ggggtaatca tggccagtca
     3181 ataattatat aaaggagttc aaatactata gctgtcagtt gatgaatttg ttatgtagta
     3241 aaatgtatga ctttgtatgg gtttcttcag ccctttttct gccactagca accagaatag
     3301 cactttacct tttggttggc tagataagtg gctgactacc tgtttttctc actgtggtgt
     3361 gattggctaa acaatctcgc attaaaaatt caaatgtaaa ttgaattcac atgaaaaatc
     3421 atgtttggtt gtaaacctcc aatgttttga ttctctaatc atgttttcgt cacatgctga
     3481 gtaaaagtgc cttacaatgt aaaaattgta cagtacttat gttcccaagt agcatcatca
     3541 tcttctgggt agtaattaca ttgtggtatt aatatttaga aaaatggacc tcagcagtgt
     3601 atttactgta catctcttaa gtccttaact gtagttttaa taagcatgac attatttgat
     3661 aagtatataa catttacatc atttcaaaaa atactgccgt tactgtcttt tatgcatatt
     3721 ttagcctgaa attttgaagc gtcttttttc tttctttttt ctttttttgt tttgtttttt
     3781 gttattgata ttaaacagtg taatctttgc aagcgtatat tgaagattat tctggagcat
     3841 ttattgcctt accagaaatg ttagtaggaa atgttcttta gagtagaaag atagacttga
     3901 gtttctatac ttttaagaag agctctttgt tcctggggga ggggggcagg gggtgaattt
     3961 tactttcatc tcaagttatt aaaaacccac aactgaagta aattttattt caagaatcag
     4021 cagttttaga atttcagata gtacttgctc agaagtacat gctactcaag atattaagag
     4081 ataacaagat ctgtagatct gctattgaat cagaatctgt gtacttgaac aaatgtgtga
     4141 atctcaaata tctcaaagca aaagaaaaag tgttctagag tgttgttgct tttttaaaaa
     4201 aagcgctgaa gttagaccaa ggtatacagt tttgttctaa cagacattta ggttaattgt
     4261 aaagataagg aatgcattat gggtcaaaaa tcaaacattc ctctcatgtt atgtatattt
     4321 tgttcctgtt atattggctt tattttcaaa attgtagttt gtagtattag tttcctttta
     4381 ttggtattct tgcatatact attcattcaa taaatgactt atgactttca
//
LOCUS       NM_001015878            1287 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens aurora kinase C (AURKC), transcript variant 1, mRNA.
ACCESSION   NM_001015878
VERSION     NM_001015878.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1287)
  AUTHORS   de Castro CML, Pereira COB, Aprigio J, Costa Lima MA, Ribeiro MG and
            Amorim MR.
  TITLE     Aurora kinase genetic polymorphisms: an association study in Down
            syndrome and spontaneous abortion
  JOURNAL   Hum Cell 35 (3), 849-855 (2022)
   PUBMED   35218477
  REMARK    GeneRIF: Aurora kinase genetic polymorphisms: an association study
            in Down syndrome and spontaneous abortion.
REFERENCE   2  (bases 1 to 1287)
  AUTHORS   Bejar JF, DiSanza Z and Quartuccio SM.
  TITLE     The oncogenic role of meiosis-specific Aurora kinase C in mitotic
            cells
  JOURNAL   Exp Cell Res 407 (2), 112803 (2021)
   PUBMED   34461108
  REMARK    GeneRIF: The oncogenic role of meiosis-specific Aurora kinase C in
            mitotic cells.
REFERENCE   3  (bases 1 to 1287)
  AUTHORS   Mesic A, Rogar M, Hudler P, Bilalovic N, Eminovic I and Komel R.
  TITLE     Genetic variations in AURORA cell cycle kinases are associated with
            glioblastoma multiforme
  JOURNAL   Sci Rep 11 (1), 17444 (2021)
   PUBMED   34465813
  REMARK    GeneRIF: Genetic variations in AURORA cell cycle kinases are
            associated with glioblastoma multiforme. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 1287)
  AUTHORS   Eijkenboom L, Mulder C, van der Reijden B, van Mello N, van Leersum
            J, Koorenhof-Scheele T, Braat D, Beerendonk C and Peek R.
  TITLE     Purging human ovarian cortex of contaminating leukaemic cells by
            targeting the mitotic catastrophe signalling pathway
  JOURNAL   J Assist Reprod Genet 38 (6), 1571-1588 (2021)
   PUBMED   33725274
  REMARK    GeneRIF: Purging human ovarian cortex of contaminating leukaemic
            cells by targeting the mitotic catastrophe signalling pathway.
REFERENCE   5  (bases 1 to 1287)
  AUTHORS   Choi SH, Yoon HS, Yoo SA, Yun SH, Park JH, Han EH, Chi SG and Chung
            YH.
  TITLE     Co-relation with novel phosphorylation sites of IkappaBalpha and
            necroptosis in breast cancer cells
  JOURNAL   BMC Cancer 21 (1), 596 (2021)
   PUBMED   34030642
  REMARK    GeneRIF: Co-relation with novel phosphorylation sites of
            IkappaBalpha and necroptosis in breast cancer cells. Erratum:[BMC
            Cancer. 2021 Nov 11;21(1):1198. PMID: 34763661] Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 1287)
  AUTHORS   Clark AG, Glanowski S, Nielsen R, Thomas PD, Kejariwal A, Todd MA,
            Tanenbaum DM, Civello D, Lu F, Murphy B, Ferriera S, Wang G, Zheng
            X, White TJ, Sninsky JJ, Adams MD and Cargill M.
  TITLE     Inferring nonneutral evolution from human-chimp-mouse orthologous
            gene trios
  JOURNAL   Science 302 (5652), 1960-1963 (2003)
   PUBMED   14671302
REFERENCE   7  (bases 1 to 1287)
  AUTHORS   Katayama H, Brinkley WR and Sen S.
  TITLE     The Aurora kinases: role in cell transformation and tumorigenesis
  JOURNAL   Cancer Metastasis Rev 22 (4), 451-464 (2003)
   PUBMED   12884918
  REMARK    Review article
REFERENCE   8  (bases 1 to 1287)
  AUTHORS   Kimura M, Matsuda Y, Yoshioka T and Okano Y.
  TITLE     Cell cycle-dependent expression and centrosome localization of a
            third human aurora/Ipl1-related protein kinase, AIK3
  JOURNAL   J Biol Chem 274 (11), 7334-7340 (1999)
   PUBMED   10066797
REFERENCE   9  (bases 1 to 1287)
  AUTHORS   Bernard M, Sanseau P, Henry C, Couturier A and Prigent C.
  TITLE     Cloning of STK13, a third human protein kinase related to Drosophila
            aurora and budding yeast Ipl1 that maps on chromosome 19q13.3-ter
  JOURNAL   Genomics 53 (3), 406-409 (1998)
   PUBMED   9799611
REFERENCE   10  (bases 1 to 1287)
  AUTHORS   Tseng TC, Chen SH, Hsu YP and Tang TK.
  TITLE     Protein kinase profile of sperm and eggs: cloning and
            characterization of two novel testis-specific protein kinases (AIE1,
            AIE2) related to yeast and fly chromosome segregation regulators
  JOURNAL   DNA Cell Biol 17 (10), 823-833 (1998)
   PUBMED   9809744
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.261184.1,
            SRR5189667.161420.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000302804.12/ ENSP00000302898.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005261.2, AY661554.1 and
            AF054621.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001015878.1.
            Summary: This gene encodes a member of the Aurora subfamily of
            serine/threonine protein kinases. The encoded protein is a
            chromosomal passenger protein that forms complexes with Aurora-B
            and inner centromere proteins and may play a role in organizing
            microtubules in relation to centrosome/spindle function during
            mitosis. This gene is overexpressed in several cancer cell lines,
            suggesting an involvement in oncogenic signal transduction.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1287
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     gene            1..1287
                     /gene="AURKC"
                     /gene_synonym="AIE2; AIK3; ARK3; AurC; aurora-C; HEL-S-90;
                     SPGF5; STK13"
                     /note="aurora kinase C"
                     /db_xref="GeneID:6795"
                     /db_xref="HGNC:HGNC:11391"
                     /db_xref="MIM:603495"
     misc_feature    83..85
                     /gene="AURKC"
                     /gene_synonym="AIE2; AIK3; ARK3; AurC; aurora-C; HEL-S-90;
                     SPGF5; STK13"
                     /note="upstream in-frame stop codon"
     CDS             227..1156
                     /gene="AURKC"
                     /gene_synonym="AIE2; AIK3; ARK3; AurC; aurora-C; HEL-S-90;
                     SPGF5; STK13"
                     /EC_number="2.7.11.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     serine/threonine kinase 13 (aurora/IPL1-like);
                     aurora/IPL1-related kinase 3; aurora 3; epididymis
                     secretory protein Li 90; aurora/IPL1/EG2 protein 2;
                     serine/threonine-protein kinase 13; ARK-3; aurora-related
                     kinase 3; serine/threonine-protein kinase aurora-C"
                     /codon_start=1
                     /product="aurora kinase C isoform 1"
                     /protein_id="NP_001015878.1"
                     /db_xref="CCDS:CCDS33128.1"
                     /db_xref="GeneID:6795"
                     /db_xref="HGNC:HGNC:11391"
                     /db_xref="MIM:603495"
                     /translation="MSSPRAVVQLGKAQPAGEELATANQTAQQPSSPAMRRLTVDDFEI
                     GRPLGKGKFGNVYLARLKESHFIVALKVLFKSQIEKEGLEHQLRREIEIQAHLQHPNIL
                     RLYNYFHDARRVYLILEYAPRGELYKELQKSEKLDEQRTATIIEELADALTYCHDKKVI
                     HRDIKPENLLLGFRGEVKIADFGWSVHTPSLRRKTMCGTLDYLPPEMIEGRTYDEKVDL
                     WCIGVLCYELLVGYPPFESASHSETYRRILKVDVRFPLSMPLGARDLISRLLRYQPLER
                     LPLAQILKHPWVQAHSRRVLPPCAQMAS"
     misc_feature    227..325
                     /gene="AURKC"
                     /gene_synonym="AIE2; AIK3; ARK3; AurC; aurora-C; HEL-S-90;
                     SPGF5; STK13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UQB9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    818..820
                     /gene="AURKC"
                     /gene_synonym="AIE2; AIK3; ARK3; AurC; aurora-C; HEL-S-90;
                     SPGF5; STK13"
                     /note="Phosphothreonine, by PKA.
                     /evidence=ECO:0000250|UniProtKB:O88445; propagated from
                     UniProtKB/Swiss-Prot (Q9UQB9.1); phosphorylation site"
     misc_feature    1100..1153
                     /gene="AURKC"
                     /gene_synonym="AIE2; AIK3; ARK3; AurC; aurora-C; HEL-S-90;
                     SPGF5; STK13"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UQB9.1);
                     Region: Interaction with BIRC5.
                     /evidence=ECO:0000269|PubMed:27332895"
     regulatory      1262..1267
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AURKC"
                     /gene_synonym="AIE2; AIK3; ARK3; AurC; aurora-C; HEL-S-90;
                     SPGF5; STK13"
                     /note="hexamer: AATAAA"
     polyA_site      1287
                     /gene="AURKC"
                     /gene_synonym="AIE2; AIK3; ARK3; AurC; aurora-C; HEL-S-90;
                     SPGF5; STK13"
                     /note="major polyA site"
ORIGIN
        1 gagcggttgg tgccgggtat aaaagaaggc cgcgcagcca cggctgctca cgacgccgcg
       61 gatcccgaag cctgtgtagc agtgagacat cagtgaggct gcaggacgag caggattgga
      121 agcgccccgg ccagaaagtg accccccacc cctttcagga ccctgtgaac gggaacagcc
      181 atccagaggg ttcaggaagg cgtccgcgcc ctcacctctt ctccccatga gctcccccag
      241 agctgtggtg cagctgggca aagctcaacc tgcaggcgaa gagttggcta cagcaaacca
      301 aacagcccag cagcccagca gcccagccat gcggcgcctc acagtcgatg actttgaaat
      361 cgggcgtccc ctgggcaagg ggaaatttgg gaatgtgtac ctggctcggc tcaaggaaag
      421 ccatttcatt gtggccctga aggttctctt caagtcgcag atagagaagg aaggactgga
      481 gcaccagctg cgccgggaaa ttgagatcca ggctcatcta caacacccca atatcctgcg
      541 cctgtataac tatttccatg atgcacgccg ggtgtacctg attctggaat atgctccaag
      601 gggtgagctc tacaaggagc tgcagaaaag cgagaaatta gatgaacagc gcacagccac
      661 gataatagag gagttggcag atgccctgac ctactgccat gacaagaaag tgattcacag
      721 agatattaag ccagagaacc tgctgctggg gttcaggggt gaggtgaaga ttgcagattt
      781 tggctggtct gtgcacaccc cctccctgag gaggaagaca atgtgtggga cactggacta
      841 cttgccgcca gaaatgattg aggggagaac atatgatgaa aaggtggatt tgtggtgcat
      901 tggagtgctc tgctatgagc tgctggtggg atatccaccc tttgagagcg cctcccacag
      961 tgagacttac agacgcatcc tcaaggtaga tgtgaggttt ccactatcaa tgcctctggg
     1021 ggcccgggac ttgatttcca ggcttctcag ataccagccc ttggagagac tgcccctggc
     1081 ccagatcctg aagcacccct gggttcaggc ccactcccga agggtgctgc ctccctgtgc
     1141 tcagatggct tcctgagccc tgtctgcctc tgttcccttt gtgtgtgttc agggagctct
     1201 cctggctctg ccacctcatt tgtctttatt tttttctctt ttaagatgta agatgctaat
     1261 taataaaagc tgaatcattt catacca
//
LOCUS       NM_001015880            3699 bp    mRNA    linear   PRI 18-JUL-2023
DEFINITION  Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2
            (PAPSS2), transcript variant 2, mRNA.
ACCESSION   NM_001015880
VERSION     NM_001015880.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3699)
  AUTHORS   Zhang L, Song W, Li T, Mu Y, Zhang P, Hu J, Lin H, Zhang J, Gao H
            and Zhang L.
  TITLE     Redox switching mechanism of the adenosine 5'-phosphosulfate kinase
            domain (APSK2) of human PAPS synthase 2
  JOURNAL   Structure 31 (7), 826-835 (2023)
   PUBMED   37207644
  REMARK    GeneRIF: Redox switching mechanism of the adenosine
            5'-phosphosulfate kinase domain (APSK2) of human PAPS synthase 2.
REFERENCE   2  (bases 1 to 3699)
  AUTHORS   Cao Y, Guan X, Li S, Wu N, Chen X, Yang T, Yang B and Zhao X.
  TITLE     Identification of variants in ACAN and PAPSS2 leading to
            spondyloepi(meta)physeal dysplasias in four Chinese families
  JOURNAL   Mol Genet Genomic Med 10 (5), e1916 (2022)
   PUBMED   35261200
  REMARK    GeneRIF: Identification of variants in ACAN and PAPSS2 leading to
            spondyloepi(meta)physeal dysplasias in four Chinese families.
REFERENCE   3  (bases 1 to 3699)
  AUTHORS   Zhang P, Zhang L, Hou Z, Lin H, Gao H and Zhang L.
  TITLE     Structural basis for the substrate recognition mechanism of
            ATP-sulfurylase domain of human PAPS synthase 2
  JOURNAL   Biochem Biophys Res Commun 586, 1-7 (2022)
   PUBMED   34818583
  REMARK    GeneRIF: Structural basis for the substrate recognition mechanism of
            ATP-sulfurylase domain of human PAPS synthase 2.
REFERENCE   4  (bases 1 to 3699)
  AUTHORS   Xu P, Xi Y, Zhu J, Zhang M, Luka Z, Stolz DB, Cai X, Xie Y, Xu M,
            Ren S, Huang Z, Yang D, York JD, Ma X and Xie W.
  TITLE     Intestinal Sulfation Is Essential to Protect Against Colitis and
            Colonic Carcinogenesis
  JOURNAL   Gastroenterology 161 (1), 271-286 (2021)
   PUBMED   33819483
  REMARK    GeneRIF: Intestinal Sulfation Is Essential to Protect Against
            Colitis and Colonic Carcinogenesis.
REFERENCE   5  (bases 1 to 3699)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 3699)
  AUTHORS   Besset S, Vincourt JB, Amalric F and Girard JP.
  TITLE     Nuclear localization of PAPS synthetase 1: a sulfate activation
            pathway in the nucleus of eukaryotic cells
  JOURNAL   FASEB J 14 (2), 345-354 (2000)
   PUBMED   10657990
REFERENCE   7  (bases 1 to 3699)
  AUTHORS   Kurima K, Singh B and Schwartz NB.
  TITLE     Genomic organization of the mouse and human genes encoding the ATP
            sulfurylase/adenosine 5'-phosphosulfate kinase isoform SK2
  JOURNAL   J Biol Chem 274 (47), 33306-33312 (1999)
   PUBMED   10559207
REFERENCE   8  (bases 1 to 3699)
  AUTHORS   Faiyaz ul Haque M, King LM, Krakow D, Cantor RM, Rusiniak ME, Swank
            RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M and Cohn DH.
  TITLE     Mutations in orthologous genes in human spondyloepimetaphyseal
            dysplasia and the brachymorphic mouse
  JOURNAL   Nat Genet 20 (2), 157-162 (1998)
   PUBMED   9771708
REFERENCE   9  (bases 1 to 3699)
  AUTHORS   Ahmad M, Faiyaz Ul Haque M, Ahmad W, Abbas H, Haque S, Krakow D,
            Rimoin DL, Lachman RS and Cohn DH.
  TITLE     Distinct, autosomal recessive form of spondyloepimetaphyseal
            dysplasia segregating in an inbred Pakistani kindred
  JOURNAL   Am J Med Genet 78 (5), 468-473 (1998)
   PUBMED   9714015
REFERENCE   10  (bases 1 to 3699)
  AUTHORS   Kurima K, Warman ML, Krishnan S, Domowicz M, Krueger RC Jr, Deyrup A
            and Schwartz NB.
  TITLE     A member of a family of sulfate-activating enzymes causes murine
            brachymorphism
  JOURNAL   Proc Natl Acad Sci U S A 95 (15), 8681-8685 (1998)
   PUBMED   9671738
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1998 Sep 29;95(20):12071]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF150754.2, AF173365.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000456849.2/ ENSP00000406157.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ221395.1, CB960618.1,
            AF150754.2, BC009894.2, BQ888954.1 and BQ772647.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001015880.1.
            Summary: Sulfation is a common modification of endogenous (lipids,
            proteins, and carbohydrates) and exogenous (xenobiotics and drugs)
            compounds. In mammals, the sulfate source is 3'-phosphoadenosine
            5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate.
            Two different tissue isoforms encoded by different genes synthesize
            PAPS. This gene encodes one of the two PAPS synthetases. Defects in
            this gene cause the Pakistani type of spondyloepimetaphyseal
            dysplasia. Two alternatively spliced transcript variants that
            encode different isoforms have been described for this gene.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) includes an alternate in-frame
            segment, compared to variant 1, resulting in a longer protein
            (isoform 2), compared to isoform 1. Isoform 2 has also been named
            PAPS synthase 2b.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.2-q23.31"
     gene            1..3699
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /note="3'-phosphoadenosine 5'-phosphosulfate synthase 2"
                     /db_xref="GeneID:9060"
                     /db_xref="HGNC:HGNC:8604"
                     /db_xref="MIM:603005"
     CDS             105..1964
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /EC_number="2.7.1.25"
                     /EC_number="2.7.7.4"
                     /note="isoform b is encoded by transcript variant 2;
                     3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2;
                     bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase
                     2; sulfate adenylyltransferase; adenylyl-sulfate kinase;
                     ATP sulfurylase/APS kinase 2; PAPS synthase 2; PAPS
                     synthetase 2; bifunctional 3'-phosphoadenosine
                     5'-phosphosulfate synthethase 2; ATP sulfurylase/adenosine
                     5'-phosphosulfate kinase; SK 2; epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="bifunctional 3'-phosphoadenosine
                     5'-phosphosulfate synthase 2 isoform b"
                     /protein_id="NP_001015880.1"
                     /db_xref="CCDS:CCDS44453.1"
                     /db_xref="GeneID:9060"
                     /db_xref="HGNC:HGNC:8604"
                     /db_xref="MIM:603005"
                     /translation="MSGIKKQKTENQQKSTNVVYQAHHVSRNKRGQVVGTRGGFRGCTV
                     WLTGLSGAGKTTISFALEEYLVSHAIPCYSLDGDNVRHGLNRNLGFSPGDREENIRRIA
                     EVAKLFADAGLVCITSFISPFAKDRENARKIHESAGLPFFEIFVDAPLNICESRDVKGL
                     YKRARAGEIKGFTGIDSDYEKPETPERVLKTNLSTVSDCVHQVVELLQEQNIVPYTIIK
                     DIHELFVPENKLDHVRAEAETLPSLSITKLDLQWVQVLSEGWATPLKGFMREKEYLQVM
                     HFDTLLDGMALPDGVINMSIPIVLPVSAEDKTRLEGCSKFVLAHGGRRVAILRDAEFYE
                     HRKEERCSRVWGTTCTKHPHIKMVMESGDWLVGGDLQVLEKIRWNDGLDQYRLTPLELK
                     QKCKEMNADAVFAFQLRNPVHNGHALLMQDTRRRLLERGYKHPVLLLHPLGGWTKDDDV
                     PLDWRMKQHAAVLEEGVLDPKSTIVAIFPSPMLYAGPTEVQWHCRSRMIAGANFYIVGR
                     DPAGMPHPETKKDLYEPTHGGKVLSMAPGLTSVEIIPFRVAAYNKAKKAMDFYDPARHN
                     EFDFISGTRMRKLAREGENPPDGFMAPKAWKVLTDYYRSLEKN"
     misc_feature    105..749
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /note="propagated from UniProtKB/Swiss-Prot (O95340.2);
                     Region: Adenylyl-sulfate kinase. /evidence=ECO:0000305"
     regulatory      3680..3685
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /note="hexamer: AATAAA"
     polyA_site      3699
                     /gene="PAPSS2"
                     /gene_synonym="ATPSK2; BCYM4; SK2"
                     /note="major polyA site"
ORIGIN
        1 agccgctgct gctgctgctg ctgctgctgc cgccgccgcc gccgccgtcc ctgcgtcctt
       61 cggtctctgc tcccgggacc cgggctccgc cgcagccagc cagcatgtcg gggatcaaga
      121 agcaaaagac ggagaaccag cagaaatcca ccaatgtagt ctatcaggcc caccatgtga
      181 gcaggaataa gagagggcaa gtggttggaa caaggggtgg gttccgagga tgtaccgtgt
      241 ggctaacagg tctctctggt gctggaaaaa caacgataag ttttgccctg gaggagtacc
      301 ttgtctccca tgccatccct tgttactccc tggatgggga caatgtccgt catggcctta
      361 acagaaatct cggattctct cctggggaca gagaggaaaa tatccgccgg attgctgagg
      421 tggctaagct gtttgctgat gctggtctgg tctgcattac cagctttatt tctccattcg
      481 caaaggatcg tgagaatgcc cgcaaaatac atgaatcagc agggctgcca ttctttgaaa
      541 tatttgtaga tgcacctcta aatatttgtg aaagcagaga cgtaaaaggc ctctataaaa
      601 gggccagagc tggggagatt aaaggattta caggtattga ttctgattat gagaaacctg
      661 aaactcctga gcgtgtgctt aaaaccaatt tgtccacagt gagtgactgt gtccaccagg
      721 tagtggaact tctgcaagag cagaacattg taccctatac tataatcaaa gatatccacg
      781 aactctttgt gccggaaaac aaacttgacc acgtccgagc tgaggctgaa actctccctt
      841 cattatcaat tactaagctg gatctccagt gggtccaggt tttgagcgaa ggctgggcca
      901 ctcccctcaa aggtttcatg cgggagaagg agtacttaca ggttatgcac tttgacaccc
      961 tgctagatgg catggccctt cctgatggcg tgatcaacat gagcatcccc attgtactgc
     1021 ccgtctctgc agaggataag acacggctgg aagggtgcag caagtttgtc ctggcacatg
     1081 gtggacggag ggtagctatc ttacgagacg ctgaattcta tgaacacaga aaagaggaac
     1141 gctgttcccg tgtttggggg acaacatgta caaaacaccc ccatatcaaa atggtgatgg
     1201 aaagtgggga ctggctggtt ggtggagacc ttcaggtgct ggagaaaata agatggaatg
     1261 atgggctgga ccaataccgt ctgacacctc tggagctcaa acagaaatgt aaagaaatga
     1321 atgctgatgc ggtgtttgca ttccagttgc gcaatcctgt ccacaatggc catgccctgt
     1381 tgatgcagga cactcgccgc aggctcctag agaggggcta caagcacccg gtcctcctac
     1441 tacaccctct gggcggctgg accaaggatg acgatgtgcc tctagactgg cggatgaagc
     1501 agcacgcggc tgtgctcgag gaaggggtcc tggatcccaa gtcaaccatt gttgccatct
     1561 ttccgtctcc catgttatat gctggcccca cagaggtcca gtggcactgc aggtcccgga
     1621 tgattgcggg tgccaatttc tacattgtgg ggagggaccc tgcaggaatg ccccatcctg
     1681 aaaccaagaa ggatctgtat gaacccactc atgggggcaa ggtcttgagc atggcccctg
     1741 gcctcacctc tgtggaaatc attccattcc gagtggctgc ctacaacaaa gccaaaaaag
     1801 ccatggactt ctatgatcca gcaaggcaca atgagtttga cttcatctca ggaactcgaa
     1861 tgaggaagct cgcccgggaa ggagagaatc ccccagatgg cttcatggcc cccaaagcat
     1921 ggaaggtcct gacagattat tacaggtccc tggagaagaa ctaagccttt ggctccagag
     1981 tttctttctg aagtgctctt tgattacctt ttctattttt atgattagat gctttgtatt
     2041 aaattgcttc tcaatgatgc attttaatct tttataatga agtaaaagtt gtgtctataa
     2101 ttaaaaaaaa atatatatat atacacacac acatatacat acaaagtcaa actgaagacc
     2161 aaatcttagc aggtaaaagc aatattctta tacatttcat aataaaatta gctctatgta
     2221 ttttctactg cacctgagca ggcaggtccc agatttctta aggctttgtt tgaccatgtg
     2281 tctagttact tgctgaaaag tgaatatatt ttccagcatg tcttgacaac ctgtactctt
     2341 ccaatgtcat ttatcagttg taaaatatat cagattgtgt cctcttctgt acaattgaca
     2401 aaaaaaaaaa tttttttttc tcactctaaa agaggtgtgg ctcacatcaa gattcttcct
     2461 gatattttac ctcatgctgt acaaagcctt aatgttgtaa tcatatctta cgtgttgaag
     2521 acctgactgg agaaacaaaa tgtgcaataa cgtgaatttt atcttagaga tctgtgcagc
     2581 ctatttctgt cacaaaagtt atattgtcta ataagagaag tcttaatggc ctctgtgaat
     2641 aatgtaactc cagttacacg gtgactttta atagcataca gtgatttgat gaaaggacgt
     2701 caaacaatgt ggcgatgtcg tggaaagtta tctttcccgc tctttgctgt ggtcattgtg
     2761 tcttgcagaa aggatggccc tgatgcagca gcagcgccag ctgtaataaa aaataattca
     2821 cactatcaga ctagcaaggc actagaactg gaaaagacca cagaaaacaa agaatccaac
     2881 cctttcatct tacaggtgaa caaactgtga tgatgcacat gtatgtgttt tgtaagctgt
     2941 gagcaccgta acaaaatgta aatttgccat tattaggaag tgctggtggc agtgaagaag
     3001 cacccaggcc acttgactcc cagtctggtg ccctgtctac accagacaac acaggagctg
     3061 ggtcagattc ccctcagctg cttaacaaag ttcctcgaac agaaagtgct tacaaagctg
     3121 ccttctcgga tactgaaagg tcgagttttc tgaactgcac tgattttatt gcagttgaaa
     3181 aaaaaaaaaa gctattccaa agatttcaag ctgttctgag acatcttctg atggctttac
     3241 ttcctgagag gcaatgtttt tactttatgc ataattcatt gttgccaagg aataaagtga
     3301 agaaacagca ccttttaata tataggtctc tctggaagag acctaaatta gaaagagaaa
     3361 actgtgacaa ttttcatatt ctcattctta aaaaacacta atcttaacta acaaaagttc
     3421 ttttgagaat aagttacaca caatggccac agcagtttgt ctttaatagt atagtgccta
     3481 tactcatgta atcggttact cactactgcc tttaaaaaaa aaaaccagca tatttattga
     3541 aaacatgaga caggattata gtgccttaac cgatatattt tgtgacttaa aaaatacatt
     3601 taaaactgct cttctgctct agtaccatgc ttagtgcaaa tgattatttc tatgtacaac
     3661 tgatgcttgt tcttatttta ataaatttat cagagtgaa
//
LOCUS       NM_001015882            2280 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens DnaJ heat shock protein family (Hsp40) member C25
            (DNAJC25), transcript variant 1, mRNA.
ACCESSION   NM_001015882
VERSION     NM_001015882.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2280)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.45668.1,
            SRR1660805.60482.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000313525.4/ ENSP00000320650.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL135787.13 and BC048318.1.
            On Nov 23, 2018 this sequence version replaced NM_001015882.2.
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the functional protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2280
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.3"
     gene            1..2280
                     /gene="DNAJC25"
                     /gene_synonym="bA16L21.2.1"
                     /note="DnaJ heat shock protein family (Hsp40) member C25"
                     /db_xref="GeneID:548645"
                     /db_xref="HGNC:HGNC:34187"
     CDS             75..1157
                     /gene="DNAJC25"
                     /gene_synonym="bA16L21.2.1"
                     /note="DnaJ-like protein; DnaJ (Hsp40) homolog, subfamily
                     C, member 25"
                     /codon_start=1
                     /product="dnaJ homolog subfamily C member 25 precursor"
                     /protein_id="NP_001015882.2"
                     /db_xref="CCDS:CCDS43862.1"
                     /db_xref="GeneID:548645"
                     /db_xref="HGNC:HGNC:34187"
                     /translation="MGAPLLSPGWGAGAAGRRWWMLLAPLLPALLLVRPAGALVEGLYC
                     GTRDCYEVLGVSRSAGKAEIARAYRQLARRYHPDRYRPQPGDEGPGRTPQSAEEAFLLV
                     ATAYETLKDEETRKDYDYMLDHPEEYYSHYYHYYSRRLAPKVDVRVVILVSVCAISVFQ
                     FFSWWNSYNKAISYLATVPKYRIQATEIAKQQGLLKKAKEKGKNKKSKEEIRDEEENII
                     KNIIKSKIDIKGGYQKPQICDLLLFQIILAPFHLCSYIVWYCRWIYNFNIKGKEYGEEE
                     RLYIIRKSMKMSKSQFDSLEDHQKETFLKRELWIKENYEVYKQEQEEELKKKLANDPRW
                     KRYRRWMKNEGPGRLTFVDD"
     sig_peptide     75..188
                     /gene="DNAJC25"
                     /gene_synonym="bA16L21.2.1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    132..194
                     /gene="DNAJC25"
                     /gene_synonym="bA16L21.2.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1X3.1);
                     transmembrane region"
     misc_feature    522..584
                     /gene="DNAJC25"
                     /gene_synonym="bA16L21.2.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1X3.1);
                     transmembrane region"
     misc_feature    804..866
                     /gene="DNAJC25"
                     /gene_synonym="bA16L21.2.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H1X3.1);
                     transmembrane region"
     polyA_site      1475
                     /gene="DNAJC25"
                     /gene_synonym="bA16L21.2.1"
                     /note="major polyA site"
     regulatory      2261..2266
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC25"
                     /gene_synonym="bA16L21.2.1"
                     /note="hexamer: AATAAA"
     polyA_site      2280
                     /gene="DNAJC25"
                     /gene_synonym="bA16L21.2.1"
                     /note="major polyA site"
ORIGIN
        1 agacgggact agccgggcgc gcggctgagt gctgcagaat cgctggggtg gcagagccgc
       61 cagcgaggct ggggatgggg gcgccgctgc tctctcccgg ctggggagcc ggggctgccg
      121 gccggcgctg gtggatgctg ctggcgcccc tgctgccggc gctgctgctg gtgcggcccg
      181 cgggggccct ggtggagggg ctctactgcg gcacgcggga ctgctacgag gtgctgggcg
      241 tgagccgctc ggcgggcaag gcggagatcg cgcgggccta ccgccagctg gcccggcgct
      301 accaccctga ccgctaccgg ccccagcccg gagacgaggg ccccgggcgg acgccgcaga
      361 gcgccgagga ggctttcctg ctggtggcaa ccgcctacga gacactcaag gatgaagaaa
      421 cacgaaaaga ttatgattac atgctggatc atccagaaga gtactacagc cattactacc
      481 actactatag caggcgcttg gcccctaagg tggatgttag agtagtgatt ttggtcagcg
      541 tgtgtgctat ttcggtgttt cagtttttca gctggtggaa tagctacaat aaggcaatca
      601 gctacctagc cacagtgccc aagtaccgta tccaagctac agagattgcc aagcagcagg
      661 gactgctcaa aaaagccaaa gaaaaaggca aaaacaaaaa gtccaaagaa gaaattcgtg
      721 acgaggagga gaacatcata aagaacatta taaaaagtaa aatagatata aaggggggct
      781 atcagaaacc ccaaatctgt gatcttctcc tgtttcaaat tatcttagct ccttttcacc
      841 tatgctcata tatagtttgg tattgtcggt ggatctataa ttttaacatc aaaggcaaag
      901 aatatggaga ggaagagaga ttatacatta tacgtaaatc tatgaagatg tcaaagtctc
      961 aatttgatag tctagaagat catcagaaag aaacttttct taaacgagag ctctggatca
     1021 aggagaatta tgaggtctac aagcaagaac aagaggaaga attaaagaaa aagttggcaa
     1081 atgaccccag atggaagaga tacaggagat ggatgaagaa tgaagggcct gggcggttaa
     1141 catttgtgga tgactgaaga ttgatggaat gctactatgc caaaccttaa ttgtgatatt
     1201 attttcataa ctgaattatt ttagaaatgt atcaattgac tgctgctcag cagtaactaa
     1261 aattcctcaa gtatttgatt aaacagaata atgtcaaaat ttaaaccttc ccttaaaact
     1321 ttatacataa gacatttatg attgttcaat ttttataatc tatttgtgga ttttgttaaa
     1381 agatttcaca tgaagattta ttagttgcca tttaaaattt ttatatgttt agttaaaaga
     1441 tttgacatga aaatttatta gataccattt aaaaatttta tgtgttatgt gtttattctt
     1501 tgagaatgtt accttactgt ttgtaatagt gctacatttt tctgctttca tggcctctgt
     1561 attttcacaa aacaccaaaa acagcattta attatattat catgagtgtg tttctggaca
     1621 caaacttctg cagtagaatg acctaacatg tcgttttcat tgcagtcatt ataggattga
     1681 aatacgttca aaataacctc tctaggaaag tcttctgcta gaatttctcc cctctattca
     1741 ttataatatt ctttgttttt aaagccagtc aaatataata gtcttaataa gatcagaaac
     1801 tctccaggag agtgagtcta ccctcacgtc cttgtaggat gatcttgatt atagtcttat
     1861 tataggacta taactgtatt ctcaacattt ctccagaaag gaccttgtaa aaaggtcttt
     1921 tgtaccacag tattggtttt ttcccctctc tcttcactta aaaaaaaaaa tagcaaggca
     1981 gaaatagtgt attgaaaagt tgttcatcta ttatgaagtc cttgagtggt gaaaaatccg
     2041 ttgtacatga gaacatttct atgcatttaa gccagaaacg aggtacatgg ctgtgtgctc
     2101 ttctgtcaac caatgaaatg tgttttcaca tgtgtggcag tgcaagtaaa taacacatta
     2161 tttgactgaa tcaggcatga tactgcacca aagtgttggt acatattcac ggtagtaaat
     2221 cagtacccct gttaaaggat ttatcccatt gcttcatatt aataaaatgg ttacaatata
//
LOCUS       NM_001015887            3523 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens immunoglobulin superfamily member 11 (IGSF11),
            transcript variant 2, mRNA.
ACCESSION   NM_001015887
VERSION     NM_001015887.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3523)
  AUTHORS   Chen B, Zhu G, Yan A, He J, Liu Y, Li L, Yang X, Dong C and Kee K.
  TITLE     IGSF11 is required for pericentric heterochromatin dissociation
            during meiotic diplotene
  JOURNAL   PLoS Genet 17 (9), e1009778 (2021)
   PUBMED   34491997
  REMARK    GeneRIF: IGSF11 is required for pericentric heterochromatin
            dissociation during meiotic diplotene. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 3523)
  AUTHORS   Xie X, Chen C, Chen W, Jiang J, Wang L, Li T, Sun H and Liu J.
  TITLE     Structural Basis of VSIG3: The Ligand for VISTA
  JOURNAL   Front Immunol 12, 625808 (2021)
   PUBMED   33841409
  REMARK    GeneRIF: Structural Basis of VSIG3: The Ligand for VISTA.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3523)
  AUTHORS   Wang J, Wu G, Manick B, Hernandez V, Renelt M, Erickson C, Guan J,
            Singh R, Rollins S, Solorz A, Bi M, Li J, Grabowski D, Dirkx J,
            Tracy C, Stuart T, Ellinghuysen C, Desmond D, Foster C and Kalabokis
            V.
  TITLE     VSIG-3 as a ligand of VISTA inhibits human T-cell function
  JOURNAL   Immunology 156 (1), 74-85 (2019)
   PUBMED   30220083
  REMARK    GeneRIF: this study shows that VSIG-3 as a ligand of VISTA inhibits
            human T-cell function
REFERENCE   4  (bases 1 to 3523)
  AUTHORS   Jang S, Oh D, Lee Y, Hosy E, Shin H, van Riesen C, Whitcomb D,
            Warburton JM, Jo J, Kim D, Kim SG, Um SM, Kwon SK, Kim MH, Roh JD,
            Woo J, Jun H, Lee D, Mah W, Kim H, Kaang BK, Cho K, Rhee JS, Choquet
            D and Kim E.
  TITLE     Synaptic adhesion molecule IgSF11 regulates synaptic transmission
            and plasticity
  JOURNAL   Nat Neurosci 19 (1), 84-93 (2016)
   PUBMED   26595655
  REMARK    GeneRIF: Concerted role for IgSF11 and PSD-95 in the regulation of
            AMPAR-mediated synaptic transmission and plasticity.
REFERENCE   5  (bases 1 to 3523)
  AUTHORS   Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C,
            Chasman DI, Esko T, Thorleifsson G, Albrecht E, Ang WQ, Corre T,
            Cousminer DL, Feenstra B, Franceschini N, Ganna A, Johnson AD,
            Kjellqvist S, Lunetta KL, McMahon G, Nolte IM, Paternoster L, Porcu
            E, Smith AV, Stolk L, Teumer A, Tsernikova N, Tikkanen E, Ulivi S,
            Wagner EK, Amin N, Bierut LJ, Byrne EM, Hottenga JJ, Koller DL,
            Mangino M, Pers TH, Yerges-Armstrong LM, Zhao JH, Andrulis IL,
            Anton-Culver H, Atsma F, Bandinelli S, Beckmann MW, Benitez J,
            Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H,
            Buring JE, Chang-Claude J, Chanock S, Chen J, Chenevix-Trench G,
            Collee JM, Couch FJ, Couper D, Coveillo AD, Cox A, Czene K, D'adamo
            AP, Smith GD, De Vivo I, Demerath EW, Dennis J, Devilee P,
            Dieffenbach AK, Dunning AM, Eiriksdottir G, Eriksson JG, Fasching
            PA, Ferrucci L, Flesch-Janys D, Flyger H, Foroud T, Franke L, Garcia
            ME, Garcia-Closas M, Geller F, de Geus EE, Giles GG, Gudbjartsson
            DF, Gudnason V, Guenel P, Guo S, Hall P, Hamann U, Haring R, Hartman
            CA, Heath AC, Hofman A, Hooning MJ, Hopper JL, Hu FB, Hunter DJ,
            Karasik D, Kiel DP, Knight JA, Kosma VM, Kutalik Z, Lai S,
            Lambrechts D, Lindblom A, Magi R, Magnusson PK, Mannermaa A, Martin
            NG, Masson G, McArdle PF, McArdle WL, Melbye M, Michailidou K,
            Mihailov E, Milani L, Milne RL, Nevanlinna H, Neven P, Nohr EA,
            Oldehinkel AJ, Oostra BA, Palotie A, Peacock M, Pedersen NL,
            Peterlongo P, Peto J, Pharoah PD, Postma DS, Pouta A, Pylkas K,
            Radice P, Ring S, Rivadeneira F, Robino A, Rose LM, Rudolph A,
            Salomaa V, Sanna S, Schlessinger D, Schmidt MK, Southey MC, Sovio U,
            Stampfer MJ, Stockl D, Storniolo AM, Timpson NJ, Tyrer J, Visser JA,
            Vollenweider P, Volzke H, Waeber G, Waldenberger M, Wallaschofski H,
            Wang Q, Willemsen G, Winqvist R, Wolffenbuttel BH, Wright MJ,
            Boomsma DI, Econs MJ, Khaw KT, Loos RJ, McCarthy MI, Montgomery GW,
            Rice JP, Streeten EA, Thorsteinsdottir U, van Duijn CM, Alizadeh BZ,
            Bergmann S, Boerwinkle E, Boyd HA, Crisponi L, Gasparini P, Gieger
            C, Harris TB, Ingelsson E, Jarvelin MR, Kraft P, Lawlor D, Metspalu
            A, Pennell CE, Ridker PM, Snieder H, Sorensen TI, Spector TD,
            Strachan DP, Uitterlinden AG, Wareham NJ, Widen E, Zygmunt M, Murray
            A, Easton DF, Stefansson K, Murabito JM and Ong KK.
  CONSRTM   Australian Ovarian Cancer Study; GENICA Network; kConFab; LifeLines
            Cohort Study; InterAct Consortium; Early Growth Genetics (EGG)
            Consortium
  TITLE     Parent-of-origin-specific allelic associations among 106 genomic
            loci for age at menarche
  JOURNAL   Nature 514 (7520), 92-97 (2014)
   PUBMED   25231870
REFERENCE   6  (bases 1 to 3523)
  AUTHORS   Harada H, Suzu S, Hayashi Y and Okada S.
  TITLE     BT-IgSF, a novel immunoglobulin superfamily protein, functions as a
            cell adhesion molecule
  JOURNAL   J Cell Physiol 204 (3), 919-926 (2005)
   PUBMED   15795899
  REMARK    GeneRIF: cell adhesion-inducing function of BT-IgSF suggests a role
            of the cell surface molecule in the development/function of the
            central nervous system and spermatogenesis
REFERENCE   7  (bases 1 to 3523)
  AUTHORS   Watanabe T, Suda T, Tsunoda T, Uchida N, Ura K, Kato T, Hasegawa S,
            Satoh S, Ohgi S, Tahara H, Furukawa Y and Nakamura Y.
  TITLE     Identification of immunoglobulin superfamily 11 (IGSF11) as a novel
            target for cancer immunotherapy of gastrointestinal and
            hepatocellular carcinomas
  JOURNAL   Cancer Sci 96 (8), 498-506 (2005)
   PUBMED   16108831
  REMARK    GeneRIF: IGSF11 is a good candidate of cancer-testis antigen.
            Furthermore, suppression of IGSF11 by siRNA retarded the growth of
            gastric cancer cells.
REFERENCE   8  (bases 1 to 3523)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   9  (bases 1 to 3523)
  AUTHORS   Katoh M and Katoh M.
  TITLE     IGSF11 gene, frequently up-regulated in intestinal-type gastric
            cancer, encodes adhesion molecule homologous to CXADR, FLJ22415 and
            ESAM
  JOURNAL   Int J Oncol 23 (2), 525-531 (2003)
   PUBMED   12851705
REFERENCE   10  (bases 1 to 3523)
  AUTHORS   Suzu S, Hayashi Y, Harumi T, Nomaguchi K, Yamada M, Hayasawa H and
            Motoyoshi K.
  TITLE     Molecular cloning of a novel immunoglobulin superfamily gene
            preferentially expressed by brain and testis
  JOURNAL   Biochem Biophys Res Commun 296 (5), 1215-1221 (2002)
   PUBMED   12207903
  REMARK    GeneRIF: Molecular cloning of BT-IgSF which is preferentially
            expressed by brain and testis
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.77704.1,
            SRR1660803.211010.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000393775.7/ ENSP00000377370.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007023.3, AY358141.1, AB071618.1, AL834256.1 and AC068984.15.
            On May 17, 2019 this sequence version replaced NM_001015887.2.
            Summary: IGSF11 is an immunoglobulin (Ig) superfamily member that
            is preferentially expressed in brain and testis. It shares
            significant homology with coxsackievirus and adenovirus receptor
            (CXADR; MIM 602621) and endothelial cell-selective adhesion
            molecule (ESAM).[supplied by OMIM, Apr 2005].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3523
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.32"
     gene            1..3523
                     /gene="IGSF11"
                     /gene_synonym="BT-IgSF; BTIGSF; CT119; CXADRL1; Igsf13;
                     VSIG3"
                     /note="immunoglobulin superfamily member 11"
                     /db_xref="GeneID:152404"
                     /db_xref="HGNC:HGNC:16669"
                     /db_xref="MIM:608351"
     misc_feature    115..117
                     /gene="IGSF11"
                     /gene_synonym="BT-IgSF; BTIGSF; CT119; CXADRL1; Igsf13;
                     VSIG3"
                     /note="upstream in-frame stop codon"
     CDS             265..1560
                     /gene="IGSF11"
                     /gene_synonym="BT-IgSF; BTIGSF; CT119; CXADRL1; Igsf13;
                     VSIG3"
                     /note="isoform b precursor is encoded by transcript variant
                     2; V-set and immunoglobulin domain containing 3;
                     cancer/testis antigen 119; brain and testis-specific
                     immunoglobin superfamily protein; CXADR like 1; V-set and
                     immunoglobulin domain-containing protein 3; brain and
                     testis-specific immunoglobulin superfamily protein"
                     /codon_start=1
                     /product="immunoglobulin superfamily member 11 isoform b
                     precursor"
                     /protein_id="NP_001015887.1"
                     /db_xref="CCDS:CCDS46891.1"
                     /db_xref="GeneID:152404"
                     /db_xref="HGNC:HGNC:16669"
                     /db_xref="MIM:608351"
                     /translation="MTSQRSPLAPLLLLSLHGVAASLEVSESPGSIQVARGQPAVLPCT
                     FTTSAALINLNVIWMVTPLSNANQPEQVILYQGGQMFDGAPRFHGRVGFTGTMPATNVS
                     IFINNTQLSDTGTYQCLVNNLPDIGGRNIGVTGLTVLVPPSAPHCQIQGSQDIGSDVIL
                     LCSSEEGIPRPTYLWEKLDNTLKLPPTATQDQVQGTVTIRNISALSSGLYQCVASNAIG
                     TSTCLLDLQVISPQPRNIGLIAGAIGTGAVIIIFCIALILGAFFYWRSKNKEEEEEEIP
                     NEIREDDLPPKCSSAKAFHTEISSSDNNTLTSSNAYNSRYWSNNPKVHRNTESVSHFSD
                     LGQSFSFHSGNANIPSIYANGTHLVPGQHKTLVVTANRGSSPQVMSRSNGSVSRKPRPP
                     HTHSYTISHATLERIGAVPVMVPAQSRAGSLV"
     sig_peptide     265..327
                     /gene="IGSF11"
                     /gene_synonym="BT-IgSF; BTIGSF; CT119; CXADRL1; Igsf13;
                     VSIG3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    568..570
                     /gene="IGSF11"
                     /gene_synonym="BT-IgSF; BTIGSF; CT119; CXADRL1; Igsf13;
                     VSIG3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5DX21.3); glycosylation site"
     misc_feature    988..1050
                     /gene="IGSF11"
                     /gene_synonym="BT-IgSF; BTIGSF; CT119; CXADRL1; Igsf13;
                     VSIG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5DX21.3);
                     transmembrane region"
     misc_feature    1396..1398
                     /gene="IGSF11"
                     /gene_synonym="BT-IgSF; BTIGSF; CT119; CXADRL1; Igsf13;
                     VSIG3"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P0C673; propagated from
                     UniProtKB/Swiss-Prot (Q5DX21.3); methylation site"
     misc_feature    1399..1470
                     /gene="IGSF11"
                     /gene_synonym="BT-IgSF; BTIGSF; CT119; CXADRL1; Igsf13;
                     VSIG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5DX21.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1905..1910
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGSF11"
                     /gene_synonym="BT-IgSF; BTIGSF; CT119; CXADRL1; Igsf13;
                     VSIG3"
                     /note="hexamer: ATTAAA"
     polyA_site      1929
                     /gene="IGSF11"
                     /gene_synonym="BT-IgSF; BTIGSF; CT119; CXADRL1; Igsf13;
                     VSIG3"
                     /note="major polyA site"
     regulatory      3428..3433
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGSF11"
                     /gene_synonym="BT-IgSF; BTIGSF; CT119; CXADRL1; Igsf13;
                     VSIG3"
                     /note="hexamer: AATAAA"
     polyA_site      3450
                     /gene="IGSF11"
                     /gene_synonym="BT-IgSF; BTIGSF; CT119; CXADRL1; Igsf13;
                     VSIG3"
                     /note="major polyA site"
ORIGIN
        1 agtcctgggg cagggctggg tggcacggct ggcgagcccg gaacgcctct ggtcacagct
       61 cagcgtccgc ggagccgggc ggcgctgcag ctgcacttgg ctcgtctgtg ggtctgacag
      121 tcccagctct gcgcggggaa cagcggcccg gcgctgggtg tgggaggacc aggctgcccc
      181 aagagcgcgg agactcacgc ccgctcctct cctgttgcga ccgggagccg ggtaggaggc
      241 aggcgcgctc cctgcggccc cgggatgact tctcagcgtt cccctctggc gcctttgctg
      301 ctcctctctc tgcacggtgt tgcagcatcc ctggaagtgt cagagagccc tgggagtatc
      361 caggtggccc ggggtcagcc agcagtcctg ccctgcactt tcactaccag cgctgccctc
      421 attaacctca atgtcatttg gatggtcact cctctctcca atgccaacca acctgaacag
      481 gtcatcctgt atcagggtgg acagatgttt gatggtgccc cccggttcca cggtagggta
      541 ggatttacag gcaccatgcc agctaccaat gtctctatct tcattaataa cactcagtta
      601 tcagacactg gcacctacca gtgcctggtc aacaaccttc cagacatagg gggcaggaac
      661 attggggtca ccggtctcac agtgttagtt cccccttctg ccccacactg ccaaatccaa
      721 ggatcccagg atattggcag cgatgtcatc ctgctctgta gctcagagga aggcattcct
      781 cgaccaactt acctttggga gaagttagac aataccctca aactacctcc aacagctact
      841 caggaccagg tccagggaac agtcaccatc cggaacatca gtgccctgtc ttcaggtttg
      901 taccagtgcg tggcttctaa tgctattgga accagcacct gtcttctgga tctccaggtt
      961 atttcacccc agcccaggaa cattggacta atagctggag ccattggcac tggtgcagtt
     1021 attatcattt tttgcattgc actaatttta ggggcattct tttactggag aagcaaaaat
     1081 aaagaggagg aagaagaaga aattcctaat gaaataagag aggatgatct tccacccaag
     1141 tgttcttctg ccaaagcatt tcacactgag atttcctcct cggacaacaa cacactaacc
     1201 tcttccaatg cctacaacag tcgatactgg agcaacaatc caaaagttca tagaaacaca
     1261 gagtcagtca gccacttcag tgacttgggc caatctttct ctttccactc aggcaatgcc
     1321 aacataccat ccatttatgc taatgggacc catctggtcc cgggtcaaca taagactctg
     1381 gtagtgacag ccaacagagg gtcatcacca caggtgatgt ccaggagcaa tggctcagtc
     1441 agtaggaagc ctcggcctcc acacactcat tcctacacca tcagccacgc aacactggaa
     1501 cgaattggtg cagtacctgt catggtacca gcccagagtc gggccgggtc cttggtatag
     1561 gacatgagga aatgttgtgt tcagaaatga ataaatggaa tgccctcata caagggggag
     1621 ggtggggtgg ggagtgctgg gaaagaaaca cttccttata attatattag taaaatgcac
     1681 aaagaagaag gcagtgctgt tacttggcca ctaagatgtg taaaatggac tgaaatgctc
     1741 catcatgaag acttgcttcc ccaccaaaga tgtcctggga ttctgctgga tctcaaagat
     1801 gtgccaagcc aaggaaaaag atacaagagc agaatagtac ttaaaatcca aactgccgcc
     1861 cagatgggct tgttcttcat gcctaactta ataattttta agagattaaa gtgccagatg
     1921 gagtttaaat attgaaatta ttttaaaagg taggtgtctt taagaaaata acaagcaacc
     1981 ctgtgatatg ttccgtctct cccaattccc tcgttatata gagggcttaa tggtataaat
     2041 ggttaatatt ggtcccaaca gggctgactc ttctatcata taatcaaaac tttttacatg
     2101 agcaaaattc agtaagaaat gggggaagac aaaggaaacg tctttgagaa gccccttcat
     2161 atttatttat ttatctcttc ctgaaccatg aatttcatat gtggaatatt gctatattga
     2221 cagattcttg cctgtctgtg ttattctagg atctgttaca ggtccatggc aattactgtt
     2281 tattttttcc tggaaaaata tttttttata aaaggctttt tttttttttt aaatacatga
     2341 gaggcattgg gctaagaaag aaaagactgt tgtataatac cttgttcaat ggttgtattt
     2401 agtgagctca tagaggtcca tcatatcatg accgagctag gttgtgtggg caggaaggta
     2461 gggctaaggg gttgtagcct tgctgggcag cctctcagag caaggttgtt cagatctccc
     2521 ttgctattac agtaggttac tattaatgag ggcagcacct gatgcctttt gtactgaggt
     2581 atgtaacttt ctccttattt gacaagtaga agttaactta cttgtcaggg agggcagacg
     2641 tttttttgtt ctgtttcgtt tttcaaaata atgctttttg caaaagaggt aagactgaga
     2701 ctaaaggtgt tatcttctgg tgtgctcctg gaagtgtcta ccctacattt gtgtcagctc
     2761 agggttgcag tgttgcccag atgcatttta catcactgta aagagattac ttttgtggtt
     2821 actacctggc ttggctggcc ttgcggttca ccagattaat ttacaaactc ccccacttta
     2881 ttttgtgcta tgtagatctg gccatacttg cattagtgac tgtcttgcct taaccacact
     2941 taagcaaccc acaaatttct tctcagattt gtttcctaga ttacttatga tactcatccc
     3001 atgtctcaat aagagtgtct tttctttctg gatgtgttct cttactccct cttaccacca
     3061 tactttttgc tctcttctcc tgcaagcgta gtcttcacag ggagtggctt cctgacattt
     3121 ttttcagtta tgtgaatgaa tggaaaccaa cagctgctgc aaacactgtt tttccaagaa
     3181 ggctacactc agaacctaac cattgccaac catttcagta ttgataaaaa gctgaattta
     3241 ctttagcatt acttattttt ttttccattt gatggttctt actttgtaaa aatttaaata
     3301 aatgaatgtc tatacttttt ataaagaaaa gtgaaaatac catgacactg aaaagatgat
     3361 gctatcagat gctgtttaga aagcatttat cttgcatttc tttattcttt ctaattatct
     3421 aaaattcaat aaaattttat tcatataaaa taagttgtca ttaattatca atactaacga
     3481 gtatgtcatt ttaaaactta gtattctctt taatgttaca aga
//
LOCUS       NM_001016                503 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S12 (RPS12), mRNA.
ACCESSION   NM_001016
VERSION     NM_001016.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 503)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   2  (bases 1 to 503)
  AUTHORS   Katanaev VL, Kryuchkov M, Averkov V, Savitsky M, Nikolaeva K,
            Klimova N, Khaustov S and Solis GP.
  TITLE     HumanaFly: high-throughput transgenesis and expression of breast
            cancer transcripts in Drosophila eye discovers the RPS12-Wingless
            signaling axis
  JOURNAL   Sci Rep 10 (1), 21013 (2020)
   PUBMED   33273532
  REMARK    GeneRIF: HumanaFly: high-throughput transgenesis and expression of
            breast cancer transcripts in Drosophila eye discovers the
            RPS12-Wingless signaling axis. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 503)
  AUTHORS   Shrestha D, Maharjan B, Thida Oo NA, Isoda N, Nakajima C and Suzuki
            Y.
  TITLE     Molecular analysis of streptomycin-resistance associating genes in
            Mycobacterium tuberculosis isolates from Nepal
  JOURNAL   Tuberculosis (Edinb) 125, 101985 (2020)
   PUBMED   32829153
  REMARK    GeneRIF: Molecular analysis of streptomycin-resistance associating
            genes in Mycobacterium tuberculosis isolates from Nepal.
REFERENCE   4  (bases 1 to 503)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 503)
  AUTHORS   Brumwell A, Fell L, Obress L and Uniacke J.
  TITLE     Hypoxia influences polysome distribution of human ribosomal protein
            S12 and alternative splicing of ribosomal protein mRNAs
  JOURNAL   RNA 26 (3), 361-371 (2020)
   PUBMED   31911497
  REMARK    GeneRIF: Our data suggest that RPS12 (eS12) is enriched in hypoxic
            monosomes, which increases the heavy polysome association of
            structured transcripts APAF-1 and XIAP. Furthermore, hypoxia induced
            five alternative splicing events within a subset of RP mRNAs in cell
            lines
REFERENCE   6  (bases 1 to 503)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   7  (bases 1 to 503)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   8  (bases 1 to 503)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   9  (bases 1 to 503)
  AUTHORS   Pogue-Geile K, Geiser JR, Shu M, Miller C, Wool IG, Meisler AI and
            Pipas JM.
  TITLE     Ribosomal protein genes are overexpressed in colorectal cancer:
            isolation of a cDNA clone encoding the human S3 ribosomal protein
  JOURNAL   Mol Cell Biol 11 (8), 3842-3849 (1991)
   PUBMED   1712897
REFERENCE   10  (bases 1 to 503)
  AUTHORS   Herault Y, Michel D, Chatelain G and Brun G.
  TITLE     cDNA and predicted amino acid sequences of the human ribosomal
            protein genes rpS12 and rpL17
  JOURNAL   Nucleic Acids Res 19 (14), 4001 (1991)
   PUBMED   1861993
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BJ990964.1, BM742041.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000230050.4/ ENSP00000230050.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BQ276878.1 and BC095424.1.
            On Nov 22, 2018 this sequence version replaced NM_001016.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S12E family of ribosomal proteins. It is located in the
            cytoplasm. Increased expression of this gene in colorectal cancers
            compared to matched normal colonic mucosa has been observed. As is
            typical for genes encoding ribosomal proteins, there are multiple
            processed pseudogenes of this gene dispersed through the genome.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..503
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.2"
     gene            1..503
                     /gene="RPS12"
                     /gene_synonym="eS12; S12"
                     /note="ribosomal protein S12"
                     /db_xref="GeneID:6206"
                     /db_xref="HGNC:HGNC:10385"
                     /db_xref="MIM:603660"
     misc_feature    1
                     /gene="RPS12"
                     /gene_synonym="eS12; S12"
                     /note="predominant transcription initiation site"
     misc_feature    71..73
                     /gene="RPS12"
                     /gene_synonym="eS12; S12"
                     /note="upstream in-frame stop codon"
     CDS             83..481
                     /gene="RPS12"
                     /gene_synonym="eS12; S12"
                     /note="40S ribosomal protein S12"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS12"
                     /protein_id="NP_001007.2"
                     /db_xref="CCDS:CCDS5164.1"
                     /db_xref="GeneID:6206"
                     /db_xref="HGNC:HGNC:10385"
                     /db_xref="MIM:603660"
                     /translation="MAEEGIAAGGVMDVNTALQEVLKTALIHDGLARGIREAAKALDKR
                     QAHLCVLASNCDEPMYVKLVEALCAEHQINLIKVDDNKKLGEWVGLCKIDREGKPRKVV
                     GCSCVVVKDYGKESQAKDVIEEYFKCKK"
     misc_feature    86..88
                     /gene="RPS12"
                     /gene_synonym="eS12; S12"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.7,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (P25398.3); acetylation site"
     regulatory      485..490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS12"
                     /gene_synonym="eS12; S12"
                     /note="hexamer: AATAAA"
     polyA_site      503
                     /gene="RPS12"
                     /gene_synonym="eS12; S12"
                     /note="major polyA site"
ORIGIN
        1 ctctttccct gccgccgccg agtcgcgcgg aggcggaggc ttgggtgcgt tcaagattca
       61 acttcacccg taacccaccg ccatggccga ggaaggcatt gctgctggag gtgtaatgga
      121 cgttaatact gctttacaag aggttctgaa gactgccctc atccacgatg gcctagcacg
      181 tggaattcgc gaagctgcca aagccttaga caagcgccaa gcccatcttt gtgtgcttgc
      241 atccaactgt gatgagccta tgtatgtcaa gttggtggag gccctttgtg ctgaacacca
      301 aatcaaccta attaaggttg atgacaacaa gaaactagga gaatgggtag gcctttgtaa
      361 aattgacaga gaggggaaac cccgtaaagt ggttggttgc agttgtgtag tagttaagga
      421 ctatggcaag gagtctcagg ccaaggatgt cattgaagag tatttcaaat gcaagaaatg
      481 aagaaataaa tctttggctc aca
//
LOCUS       NM_001017                527 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S13 (RPS13), mRNA.
ACCESSION   NM_001017
VERSION     NM_001017.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 527)
  AUTHORS   Rashid M, Shah SG, Natu A, Verma T, Rauniyar S, Gera PB and Gupta S.
  TITLE     RPS13, a potential universal reference gene for normalisation of
            gene expression in multiple human normal and cancer tissue samples
  JOURNAL   Mol Biol Rep 48 (12), 7967-7974 (2021)
   PUBMED   34657252
  REMARK    GeneRIF: RPS13, a potential universal reference gene for
            normalisation of gene expression in multiple human normal and cancer
            tissue samples.
REFERENCE   2  (bases 1 to 527)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   3  (bases 1 to 527)
  AUTHORS   Kennedy SA, Jarboui MA, Srihari S, Raso C, Bryan K, Dernayka L,
            Charitou T, Bernal-Llinares M, Herrera-Montavez C, Krstic A,
            Matallanas D, Kotlyar M, Jurisica I, Curak J, Wong V, Stagljar I,
            LeBihan T, Imrie L, Pillai P, Lynn MA, Fasterius E, Al-Khalili
            Szigyarto C, Breen J, Kiel C, Serrano L, Rauch N, Rukhlenko O,
            Kholodenko BN, Iglesias-Martinez LF, Ryan CJ, Pilkington R,
            Cammareri P, Sansom O, Shave S, Auer M, Horn N, Klose F, Ueffing M,
            Boldt K, Lynn DJ and Kolch W.
  TITLE     Extensive rewiring of the EGFR network in colorectal cancer cells
            expressing transforming levels of KRASG13D
  JOURNAL   Nat Commun 11 (1), 499 (2020)
   PUBMED   31980649
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 527)
  AUTHORS   Lee JH, Han JH, Kim H, Park SM, Joe EH and Jou I.
  TITLE     Parkinson's disease-associated LRRK2-G2019S mutant acts through
            regulation of SERCA activity to control ER stress in astrocytes
  JOURNAL   Acta Neuropathol Commun 7 (1), 68 (2019)
   PUBMED   31046837
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 527)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   6  (bases 1 to 527)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   7  (bases 1 to 527)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   8  (bases 1 to 527)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   9  (bases 1 to 527)
  AUTHORS   Chadeneau C, LeMoullac B and Denis MG.
  TITLE     Cloning and analysis of the human S13 ribosomal protein cDNA
  JOURNAL   Nucleic Acids Res 21 (12), 2945 (1993)
   PUBMED   8332508
REFERENCE   10  (bases 1 to 527)
  AUTHORS   Suzuki K, Olvera J and Wool IG.
  TITLE     The primary structure of rat ribosomal protein S13
  JOURNAL   Biochem Biophys Res Commun 171 (2), 519-524 (1990)
   PUBMED   2403345
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BP318859.1, SRR1163655.395667.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000525634.6/ ENSP00000435777.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AC116533.11.
            On Nov 26, 2018 this sequence version replaced NM_001017.2.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S15P family of ribosomal proteins. It is located in the
            cytoplasm. The protein has been shown to bind to the 5.8S rRNA in
            rat. The gene product of the E. coli ortholog (ribosomal protein
            S15) functions at early steps in ribosome assembly. This gene is
            co-transcribed with two U14 small nucleolar RNA genes, which are
            located in its third and fifth introns. As is typical for genes
            encoding ribosomal proteins, there are multiple processed
            pseudogenes of this gene dispersed through the genome. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..527
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     gene            1..527
                     /gene="RPS13"
                     /gene_synonym="S13; uS15"
                     /note="ribosomal protein S13"
                     /db_xref="GeneID:6207"
                     /db_xref="HGNC:HGNC:10386"
                     /db_xref="MIM:180476"
     misc_feature    1
                     /gene="RPS13"
                     /gene_synonym="S13; uS15"
                     /note="predominant transcription initiation site"
     CDS             27..482
                     /gene="RPS13"
                     /gene_synonym="S13; uS15"
                     /EC_number="3.6.5.3"
                     /note="40S ribosomal protein S13"
                     /codon_start=1
                     /product="small ribosomal subunit protein uS15"
                     /protein_id="NP_001008.1"
                     /db_xref="CCDS:CCDS7823.1"
                     /db_xref="GeneID:6207"
                     /db_xref="HGNC:HGNC:10386"
                     /db_xref="MIM:180476"
                     /translation="MGRMHAPGKGLSQSALPYRRSVPTWLKLTSDDVKEQIYKLAKKGL
                     TPSQIGVILRDSHGVAQVRFVTGNKILRILKSKGLAPDLPEDLYHLIKKAVAVRKHLER
                     NRKDKDAKFRLILIESRIHRLARYYKTKRVLPPNWKYESSTASALVA"
     misc_feature    105..107
                     /gene="RPS13"
                     /gene_synonym="S13; uS15"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62277.2); acetylation site"
     misc_feature    114..116
                     /gene="RPS13"
                     /gene_synonym="S13; uS15"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P62277.2); phosphorylation site"
     misc_feature    138..140
                     /gene="RPS13"
                     /gene_synonym="S13; uS15"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455; propagated from
                     UniProtKB/Swiss-Prot (P62277.2); phosphorylation site"
     regulatory      503..508
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS13"
                     /gene_synonym="S13; uS15"
                     /note="hexamer: AATAAA"
     polyA_site      527
                     /gene="RPS13"
                     /gene_synonym="S13; uS15"
                     /note="major polyA site"
ORIGIN
        1 cctttcgttg cctgatcgcc gccatcatgg gtcgcatgca tgctcccggg aagggcctgt
       61 cccagtcggc tttaccctat cgacgcagcg tccccacttg gttgaagttg acatctgacg
      121 acgtgaagga gcagatttac aaactggcca agaagggcct tactccttca cagatcggtg
      181 taatcctgag agattcacat ggtgttgcac aagtacgttt tgtgacaggc aataaaattt
      241 taagaattct taagtctaag ggacttgctc ctgatcttcc tgaagatctc taccatttaa
      301 ttaagaaagc agttgctgtt cgaaagcatc ttgagaggaa cagaaaggat aaggatgcta
      361 aattccgtct gattctaata gagagccgga ttcaccgttt ggctcgatat tataagacca
      421 agcgagtcct ccctcccaat tggaaatatg aatcatctac agcctctgcc ctggtcgcat
      481 aaatttgtct gtgtactcaa gcaataaaat gattgtttaa ctaaaag
//
LOCUS       NM_001017361            1037 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens KH domain containing 3 like, subcortical maternal
            complex member (KHDC3L), mRNA.
ACCESSION   NM_001017361
VERSION     NM_001017361.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1037)
  AUTHORS   Pignata L, Cecere F, Verma A, Hay Mele B, Monticelli M, Acurzio B,
            Giaccari C, Sparago A, Hernandez Mora JR, Monteagudo-Sanchez A,
            Esteller M, Pereda A, Tenorio-Castano J, Palumbo O, Carella M,
            Prontera P, Piscopo C, Accadia M, Lapunzina P, Cubellis MV, de
            Nanclares GP, Monk D, Riccio A and Cerrato F.
  TITLE     Novel genetic variants of KHDC3L and other members of the
            subcortical maternal complex associated with Beckwith-Wiedemann
            syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting
            disturbances
  JOURNAL   Clin Epigenetics 14 (1), 71 (2022)
   PUBMED   35643636
  REMARK    GeneRIF: Novel genetic variants of KHDC3L and other members of the
            subcortical maternal complex associated with Beckwith-Wiedemann
            syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting
            disturbances. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1037)
  AUTHORS   Fatemi N, Ray PF, Ramezanali F, Shahani T, Amiri-Yekta A, Kherraf
            ZE, Cazin C, Almadani N, Varkiani M, Sarmadi S, Sodeifi N, Gourabi
            H, Biglari A and Totonchi M.
  TITLE     KH domain containing 3 like (KHDC3L) frame-shift mutation causes
            both recurrent pregnancy loss and hydatidiform mole
  JOURNAL   Eur J Obstet Gynecol Reprod Biol 259, 100-104 (2021)
   PUBMED   33639414
  REMARK    GeneRIF: KH domain containing 3 like (KHDC3L) frame-shift mutation
            causes both recurrent pregnancy loss and hydatidiform mole.
REFERENCE   3  (bases 1 to 1037)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1037)
  AUTHORS   Zhang W, Chen Z, Zhang D, Zhao B, Liu L, Xie Z, Yao Y and Zheng P.
  TITLE     KHDC3L mutation causes recurrent pregnancy loss by inducing genomic
            instability of human early embryonic cells
  JOURNAL   PLoS Biol 17 (10), e3000468 (2019)
   PUBMED   31609975
  REMARK    GeneRIF: The study specified KHDC3L as a new recurrent pregnancy
            loss risk gene, and recognized its critical function in DNA damage
            repair pathways. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1037)
  AUTHORS   Ji M, Shi X, Xiang Y, Cui Q and Zhao J.
  TITLE     NLRP7 and KHDC3L variants in Chinese patients with recurrent
            hydatidiform moles
  JOURNAL   Jpn J Clin Oncol 49 (7), 620-627 (2019)
   PUBMED   31220306
  REMARK    GeneRIF: This study was designed to identify mutations of gene NLRP7
            and KHDC3L in biparental complete moles.
REFERENCE   6  (bases 1 to 1037)
  AUTHORS   Fallahian M, Sebire NJ, Savage PM, Seckl MJ and Fisher RA.
  TITLE     Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole
            phenotype on digynic triploid conceptions
  JOURNAL   Hum Mutat 34 (2), 301-308 (2013)
   PUBMED   23125094
  REMARK    GeneRIF: Both NLRP7 and KHDC3L are involved in setting or
            maintaining the appropriate imprint within the ovum in women with
            familial recurrent hydatidiform mole.
REFERENCE   7  (bases 1 to 1037)
  AUTHORS   Andreasen L, Bolund L, Niemann I, Hansen ES and Sunde L.
  TITLE     Mosaic moles and non-familial biparental moles are not caused by
            mutations in NLRP7, NLRP2 or C6orf221
  JOURNAL   Mol Hum Reprod 18 (12), 593-598 (2012)
   PUBMED   22909446
  REMARK    GeneRIF: Observations suggest that although NLRP7 and C6orf221
            mutations are related to diploid biparental FRHMs, neither of these
            genes, nor NLRP2, are related to diploid HMs with biparental
            contributions to the molar genome.
REFERENCE   8  (bases 1 to 1037)
  AUTHORS   Parry DA, Logan CV, Hayward BE, Shires M, Landolsi H, Diggle C, Carr
            I, Rittore C, Touitou I, Philibert L, Fisher RA, Fallahian M,
            Huntriss JD, Picton HM, Malik S, Taylor GR, Johnson CA, Bonthron DT
            and Sheridan EG.
  TITLE     Mutations causing familial biparental hydatidiform mole implicate
            c6orf221 as a possible regulator of genomic imprinting in the human
            oocyte
  JOURNAL   Am J Hum Genet 89 (3), 451-458 (2011)
   PUBMED   21885028
  REMARK    GeneRIF: Mutations causing familial biparental hydatidiform mole
            implicate c6orf221 as a possible regulator of genomic imprinting in
            the human oocyte.
REFERENCE   9  (bases 1 to 1037)
  AUTHORS   Pierre A, Gautier M, Callebaut I, Bontoux M, Jeanpierre E,
            Pontarotti P and Monget P.
  TITLE     Atypical structure and phylogenomic evolution of the new eutherian
            oocyte- and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family
  JOURNAL   Genomics 90 (5), 583-594 (2007)
   PUBMED   17913455
  REMARK    GeneRIF: This paper states that ECAT1 is not found in rodents.
REFERENCE   10  (bases 1 to 1037)
  AUTHORS   Mitsui K, Tokuzawa Y, Itoh H, Segawa K, Murakami M, Takahashi K,
            Maruyama M, Maeda M and Yamanaka S.
  TITLE     The homeoprotein Nanog is required for maintenance of pluripotency
            in mouse epiblast and ES cells
  JOURNAL   Cell 113 (5), 631-642 (2003)
   PUBMED   12787504
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB211062.1, BC132844.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2142363 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370367.4/ ENSP00000359392.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC019205.4, AB211062.1 and
            AI638315.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001017361.2.
            Summary: The protein encoded by this gene belongs to the KHDC1
            family, members of which contain an atypical KH domain that may not
            bind RNA like canonical KH domains. This gene is specifically
            expressed in the oocytes, and recent studies suggest that it may
            function as a regulator of genomic imprinting in the oocyte.
            Mutations in this gene are associated with recurrent biparental
            complete hydatidiform mole. [provided by RefSeq, Dec 2011].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1037
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q13"
     gene            1..1037
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /note="KH domain containing 3 like, subcortical maternal
                     complex member"
                     /db_xref="GeneID:154288"
                     /db_xref="HGNC:HGNC:33699"
                     /db_xref="MIM:611687"
     CDS             73..726
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /note="ES cell-associated transcript 1 protein; KHDC3-like
                     protein"
                     /codon_start=1
                     /product="KH domain-containing protein 3"
                     /protein_id="NP_001017361.1"
                     /db_xref="CCDS:CCDS34484.1"
                     /db_xref="GeneID:154288"
                     /db_xref="HGNC:HGNC:33699"
                     /db_xref="MIM:611687"
                     /translation="MDAPRRFPTLVQLMQPKAMPVEVLGHLPKRFSWFHSEFLKNPKVV
                     RLEVWLVEKIFGRGGERIPHVQGMSQILIHVNRLDPNGEAEILVFGRPSYQEDTIKMIM
                     NLADYHRQLQAKGSGKALAQDVATQKAETQRSSIEVREAGTQRSVEVREAGTQRSVEVQ
                     EVGTQGSPVEVQEAGTQQSLQAANKSGTQRSPEAASKAVTQRFREDARDPVTRL"
     misc_feature    73..192
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q587J8.1);
                     Region: Involved in RNA binding.
                     /evidence=ECO:0000250|UniProtKB:Q9CWU5"
     misc_feature    457..723
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q587J8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    505..507
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /note="Phosphothreonine, by ATM.
                     /evidence=ECO:0000269|PubMed:31609975; propagated from
                     UniProtKB/Swiss-Prot (Q587J8.1); phosphorylation site"
     misc_feature    538..540
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /note="Phosphothreonine, by ATM.
                     /evidence=ECO:0000269|PubMed:31609975; propagated from
                     UniProtKB/Swiss-Prot (Q587J8.1); phosphorylation site"
     misc_feature    616..618
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CWU5; propagated from
                     UniProtKB/Swiss-Prot (Q587J8.1); phosphorylation site"
     regulatory      872..877
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /note="hexamer: AATAAA"
     polyA_site      893
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
     regulatory      1019..1024
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /note="hexamer: AATAAA"
     polyA_site      1037
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /note="major polyA site"
ORIGIN
        1 ctagtctccc agctccagct cggcctttgg gtttgctgtg gtgtccttgt ctcctgcagg
       61 accggccgca gcatggacgc tcccaggcgg tttccgacgc tcgtgcaact gatgcagcca
      121 aaagcaatgc cagtggaggt gctcggtcac ctccctaagc ggttctcctg gttccactct
      181 gagttcctga agaatccgaa ggtagttcgc cttgaggttt ggctggtgga aaagatcttc
      241 ggccggggcg gagaacgcat cccgcacgtc cagggtatgt cccaaatctt gattcacgtg
      301 aatcgattgg accctaacgg cgaggctgag atcttggtat ttgggaggcc ttcttaccag
      361 gaggacacaa tcaagatgat catgaacctg gctgactatc accgccagct ccaggcgaaa
      421 ggctcaggaa aggccctcgc ccaggatgtc gccactcaga aggccgagac ccagcggtct
      481 tcaatagaag tccgggaggc cgggacgcag cgttcggtgg aggtccggga ggccgggacc
      541 cagcgttcgg tggaagtcca ggaggtcggg acacagggtt ctccggtgga ggtgcaggag
      601 gccgggaccc agcagtctct ccaggctgcc aacaagtcgg ggacccagcg atcccccgaa
      661 gctgccagca aggcagtgac ccagcggttt cgcgaggatg cccgggaccc agttactaga
      721 ttatgaaggc atctcaggcc ctggagccag agccagtcag gggttaaagt gaaagcccgt
      781 atttccgccc agaagctggg gttggggaga ggatgtggat tttttgtttt accctttctg
      841 ttgcatggtt gcaaacacaa acttgagttc taataaagaa ttgcaaagtg gaagcccgcc
      901 ccccgcctcc cccccgcctc acttaagtcc aggaagctgg ggtggcgagg aaggatgatg
      961 tggattgttt ttgttttaca ccttctgttg aatggttgcc aacacaaact tgagttctaa
     1021 taaataattg catttcc
//
LOCUS       NM_001017363            1870 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens AT-rich interaction domain 3C (ARID3C), transcript
            variant 1, mRNA.
ACCESSION   NM_001017363
VERSION     NM_001017363.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1870)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1870)
  AUTHORS   Tidwell JA, Schmidt C, Heaton P, Wilson V and Tucker PW.
  TITLE     Characterization of a new ARID family transcription factor
            (Brightlike/ARID3C) that co-activates Bright/ARID3A-mediated
            immunoglobulin gene transcription
  JOURNAL   Mol Immunol 49 (1-2), 260-272 (2011)
   PUBMED   21955986
  REMARK    GeneRIF: this report introduces Brightlike as an additional
            functional member of the family of ARID proteins, which should be
            considered in regulatory circuits, previously ascribed to be
            mediated by Bright.[ARID3C]
REFERENCE   3  (bases 1 to 1870)
  AUTHORS   Wilsker D, Probst L, Wain HM, Maltais L, Tucker PW and Moran E.
  TITLE     Nomenclature of the ARID family of DNA-binding proteins
  JOURNAL   Genomics 86 (2), 242-251 (2005)
   PUBMED   15922553
REFERENCE   4  (bases 1 to 1870)
  AUTHORS   Wilsker D, Patsialou A, Dallas PB and Moran E.
  TITLE     ARID proteins: a diverse family of DNA binding proteins implicated
            in the control of cell growth, differentiation, and development
  JOURNAL   Cell Growth Differ 13 (3), 95-106 (2002)
   PUBMED   11959810
  REMARK    Review article
REFERENCE   5  (bases 1 to 1870)
  AUTHORS   Kortschak RD, Tucker PW and Saint R.
  TITLE     ARID proteins come in from the desert
  JOURNAL   Trends Biochem Sci 25 (6), 294-299 (2000)
   PUBMED   10838570
  REMARK    Review article
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378909.4/ ENSP00000368189.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL450283.16.
            On Mar 24, 2021 this sequence version replaced NM_001017363.3.
            Summary: This gene is a member of the ARID (AT-rich interaction
            domain) family of proteins. The ARID domain is a helix-turn-helix
            motif-based DNA-binding domain. ARID family members have roles in
            embryonic patterning, cell lineage gene regulation, cell cycle
            control, transcriptional regulation and possibly in chromatin
            structure modification. [provided by RefSeq, Jul 2008].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1870
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..1870
                     /gene="ARID3C"
                     /note="AT-rich interaction domain 3C"
                     /db_xref="GeneID:138715"
                     /db_xref="HGNC:HGNC:21209"
     CDS             223..1461
                     /gene="ARID3C"
                     /note="isoform 1 is encoded by transcript variant 1;
                     AT-rich interactive domain-containing protein 3C; ARID
                     domain-containing protein 3C; Brightlike; AT rich
                     interactive domain 3C (BRIGHT-like)"
                     /codon_start=1
                     /product="AT-rich interactive domain-containing protein 3C
                     isoform 1"
                     /protein_id="NP_001017363.1"
                     /db_xref="CCDS:CCDS35006.1"
                     /db_xref="GeneID:138715"
                     /db_xref="HGNC:HGNC:21209"
                     /translation="MEALQKQQAARLAQGVGPLAPACPLLPPQPPLPDHRTLQAPEGAL
                     GNVGAEEEEDAEEDEEKREEAGAEEEAAEESRPGAQGPSSPSSQPPGLHPHEWTYEEQF
                     KQLYELDADPKRKEFLDDLFSFMQKRGTPVNRVPIMAKQVLDLYALFRLVTAKGGLVEV
                     INRKVWREVTRGLSLPTTITSAAFTLRTQYMKYLYPYECETRALSSPGELQAAIDSNRR
                     EGRRQAYTATPLFGLAGPPPRGAQDPALGPGPAPPATQSSPGPAQGSTSGLPAHACAQL
                     SPSPIKKEESGIPNPCLALPVGLALGPTREKLAPEEPPEKRAVLMGPMDPPRPCMPPSF
                     LPRGKVPLREERLDGPLNLAGSGISSINMALEINGVVYTGVLFARRQPVPASQGPTNPA
                     PPPSTGPPSSILP"
     misc_feature    223..510
                     /gene="ARID3C"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKF2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    916..1056
                     /gene="ARID3C"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKF2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1384..1458
                     /gene="ARID3C"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NKF2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1848..1853
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARID3C"
                     /note="hexamer: AATAAA"
     polyA_site      1870
                     /gene="ARID3C"
                     /note="major polyA site"
ORIGIN
        1 agcgcggcga gtgagcgcac agccgccaga ggagcacagg gcggcgggag cgcaccgccg
       61 ggacccagcc gaggccaggg ccgcctggga ggcgggcgga gcaaaggcag cgccgtggag
      121 acgccagggg cagcgggcca cgccaggcag gcggcccttt cctcggggtc ccgcctggta
      181 ccagggaccc cctcagctgg gggactgcgc ctggaagctg tcatggaggc cctgcagaag
      241 cagcaggcag ctcggctggc ccagggggtg gggccattgg cccctgcatg cccgctgctg
      301 ccaccgcagc ctcccctgcc tgaccaccgg accctacagg cccctgaggg ggccttgggg
      361 aatgttgggg ctgaggaaga ggaagatgct gaagaagatg aggagaagcg ggaggaagcc
      421 ggggcagagg aggaggcagc tgaggagagc cgtccagggg cccagggccc cagctcgcct
      481 tctagccagc cccctggact ccatccccac gagtggacct acgaggaaca attcaagcag
      541 ctgtatgagc tcgatgcaga ccccaagagg aaggaatttc tggatgacct gtttagcttc
      601 atgcaaaaga gggggacgcc agtgaaccgc gtgcccatca tggcgaagca ggtgctcgac
      661 ctgtacgctc tgtttcgcct ggtgaccgcc aagggcggcc tggtggaagt catcaaccgc
      721 aaagtgtggc gggaagtcac gcgcggcctc agcctaccca ccaccatcac ctcggccgcc
      781 ttcactctac gcacccagta catgaagtac ctgtacccgt acgagtgcga gactcgagcg
      841 ctcagctccc caggggagct ccaggccgcc atagacagca atcggcgcga gggccgtcgc
      901 caggcttaca ccgctactcc gctcttcggc ttggcagggc cgccccctcg gggcgctcag
      961 gacccagcct tgggtcccgg ccccgcccct ccggcgaccc agtccagccc tggcccagcc
     1021 cagggttcca cctccggcct gccagcgcat gcatgcgctc agctgagtcc aagccctatt
     1081 aagaaagagg agagtggaat tccaaaccct tgtctggcac tgcctgtggg cctggcactg
     1141 ggacctacac gggagaaatt ggcaccagag gagcccccag agaagagagc tgtgctgatg
     1201 gggcctatgg acccacctcg accttgcatg ccccccagtt tcctgccccg tggcaaggtt
     1261 cccctgaggg aagagcggct ggatgggcct cttaatctgg caggcagtgg catcagcagt
     1321 atcaacatgg ccctagagat caacggggtg gtctacactg gtgtcctctt tgcccgccgc
     1381 cagcctgtgc cagcttccca gggtccaacc aaccctgcac ccccaccctc cacagggccc
     1441 ccttccagca tcttgccctg agaggtccta cttgaaacta agagtcccag ccccattgct
     1501 gaggggggag gagaccccct gctttgattc tttctggctg cccactctgg gacccagccc
     1561 tgggagggga cgacacctcc catgccatgt ggacttaaaa ccaaagtttc ttttgatgtt
     1621 acacctacct cattgtaaag ggagggcacc tcctccctgg ccaattccag cagcacctac
     1681 caaagggttc ttcctccagt aaccccatca tctcctcatg tgttccctct gtcaatgtca
     1741 tctctaggac cctacccttt tgagtcagcc ctgcttctct tcaggagcca agtgaaaggt
     1801 tgggttgggg tactgtgaaa gagacatccc tcaggtcaca tctagacaat aaagctgcgg
     1861 tccctccctc
//
LOCUS       NM_001017365             960 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens complement component 4 binding protein beta (C4BPB),
            transcript variant 3, mRNA.
ACCESSION   NM_001017365
VERSION     NM_001017365.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 960)
  AUTHORS   Kupreishvili K, Meischl C, Vonk ABA, Stooker W, Eijsman L, Blom AM,
            Quax PHA, van Hinsbergh VWM, Niessen HWM and Krijnen PAJ.
  TITLE     Arterial Blood Pressure Induces Transient C4b-Binding Protein in
            Human Saphenous Vein Grafts
  JOURNAL   Ann Vasc Surg 41, 259-264 (2017)
   PUBMED   28163174
  REMARK    GeneRIF: Exposure to arterial blood pressure leads to a transient
            presence of C4bp in the saphenous vein wall.
REFERENCE   2  (bases 1 to 960)
  AUTHORS   Jiang TT, Shi LY, Wei LL, Li X, Yang S, Wang C, Liu CM, Chen ZL, Tu
            HH, Li ZJ and Li JC.
  TITLE     Serum amyloid A, protein Z, and C4b-binding protein beta chain as
            new potential biomarkers for pulmonary tuberculosis
  JOURNAL   PLoS One 12 (3), e0173304 (2017)
   PUBMED   28278182
  REMARK    GeneRIF: SAA, PROZ, and C4BPB may serve as new potential biomarkers
            for TB Publication Status: Online-Only
REFERENCE   3  (bases 1 to 960)
  AUTHORS   Dikhoff,M.J., ter Weeme,M., Vonk,A.B., Kupreishvili,K., Blom,A.M.,
            Krijnen,P.A., Stooker,W. and Niessen,H.W.
  TITLE     C4b-Binding Protein Deposition is Induced in Diseased Aortic Heart
            Valves, Coinciding with C3d
  JOURNAL   J Heart Valve Dis 24 (4), 451-456 (2015)
   PUBMED   26897815
  REMARK    GeneRIF: C4BP is deposited in the diseased aortic valve, coincident
            with C3d expression.
REFERENCE   4  (bases 1 to 960)
  AUTHORS   Wang S, Lu H, Ni J, Zhang J, Tang W, Lu W, Cai J and Zhang C.
  TITLE     An evaluation of association between common variants in C4BPB/C4BPA
            genes and schizophrenia
  JOURNAL   Neurosci Lett 590, 189-192 (2015)
   PUBMED   25660618
  REMARK    GeneRIF: C4BPB/C4BPA may not confer susceptibility to schizophrenia
            among Han Chinese
REFERENCE   5  (bases 1 to 960)
  AUTHORS   Ermert D, Weckel A, Agarwal V, Frick IM, Bjorck L and Blom AM.
  TITLE     Binding of complement inhibitor C4b-binding protein to a highly
            virulent Streptococcus pyogenes M1 strain is mediated by protein H
            and enhances adhesion to and invasion of endothelial cells
  JOURNAL   J Biol Chem 288 (45), 32172-32183 (2013)
   PUBMED   24064215
  REMARK    GeneRIF: Binding of complement inhibitor C4b-binding protein to a
            highly virulent Streptococcus pyogenes M1 strain is mediated by
            protein H and enhances adhesion to and invasion of endothelial
            cells.
REFERENCE   6  (bases 1 to 960)
  AUTHORS   Sanchez-Corral P, Criado Garcia O and Rodriguez de Cordoba S.
  TITLE     Isoforms of human C4b-binding protein. I. Molecular basis for the
            C4BP isoform pattern and its variations in human plasma
  JOURNAL   J Immunol 155 (8), 4030-4036 (1995)
   PUBMED   7561113
REFERENCE   7  (bases 1 to 960)
  AUTHORS   Hillarp A, Pardo-Manuel F, Ruiz RR, Rodriguez de Cordoba S and
            Dahlback B.
  TITLE     The human C4b-binding protein beta-chain gene
  JOURNAL   J Biol Chem 268 (20), 15017-15023 (1993)
   PUBMED   8325877
REFERENCE   8  (bases 1 to 960)
  AUTHORS   Andersson A, Dahlback B, Hanson C, Hillarp A, Levan G, Szpirer J and
            Szpirer C.
  TITLE     Genes for C4b-binding protein alpha- and beta-chains (C4BPA and
            C4BPB) are located on chromosome 1, band 1q32, in humans and on
            chromosome 13 in rats
  JOURNAL   Somat Cell Mol Genet 16 (5), 493-500 (1990)
   PUBMED   2237642
REFERENCE   9  (bases 1 to 960)
  AUTHORS   Hillarp A and Dahlback B.
  TITLE     Cloning of cDNA coding for the beta chain of human complement
            component C4b-binding protein: sequence homology with the alpha
            chain
  JOURNAL   Proc Natl Acad Sci U S A 87 (3), 1183-1187 (1990)
   PUBMED   2300577
REFERENCE   10  (bases 1 to 960)
  AUTHORS   Hillarp A and Dahlback B.
  TITLE     Novel subunit in C4b-binding protein required for protein S binding
  JOURNAL   J Biol Chem 263 (25), 12759-12764 (1988)
   PUBMED   2970465
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.150523.1,
            SRR5189658.161197.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367078.8/ ENSP00000356045.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG568018.1, L11244.1 and
            BM987840.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001017365.2.
            Summary: This gene encodes a member of a superfamily of proteins
            composed predominantly of tandemly arrayed short consensus repeats
            of approximately 60 amino acids. A single, unique beta-chain
            encoded by this gene assembles with seven identical alpha-chains
            into the predominant isoform of C4b-binding protein, a multimeric
            protein that controls activation of the complement cascade through
            the classical pathway. C4b-binding protein has a regulatory role in
            the coagulation system also, mediated through the beta-chain
            binding of protein S, a vitamin K-dependent protein that serves as
            a cofactor of activated protein C. The genes encoding both alpha
            and beta chains are located adjacent to each other on human
            chromosome 1 in the regulator of complement activation gene
            cluster. Alternative splicing gives rise to multiple transcript
            variants. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (3), also known as A12, differs in
            the 5' UTR compared to variant 1. Variants 1, 3 and 5 encode the
            same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..960
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..960
                     /gene="C4BPB"
                     /gene_synonym="C4BP"
                     /note="complement component 4 binding protein beta"
                     /db_xref="GeneID:725"
                     /db_xref="HGNC:HGNC:1328"
                     /db_xref="MIM:120831"
     misc_feature    102..104
                     /gene="C4BPB"
                     /gene_synonym="C4BP"
                     /note="upstream in-frame stop codon"
     CDS             138..896
                     /gene="C4BPB"
                     /gene_synonym="C4BP"
                     /note="isoform 1 precursor is encoded by transcript variant
                     3; C4b-binding protein beta chain"
                     /codon_start=1
                     /product="C4b-binding protein beta chain isoform 1
                     precursor"
                     /protein_id="NP_001017365.1"
                     /db_xref="CCDS:CCDS1476.1"
                     /db_xref="GeneID:725"
                     /db_xref="HGNC:HGNC:1328"
                     /db_xref="MIM:120831"
                     /translation="MFFWCACCLMVAWRVSASDAEHCPELPPVDNSIFVAKEVEGQILG
                     TYVCIKGYHLVGKKTLFCNASKEWDNTTTECRLGHCPDPVLVNGEFSSSGPVNVSDKIT
                     FMCNDHYILKGSNRSQCLEDHTWAPPFPICKSRDCDPPGNPVHGYFEGNNFTLGSTISY
                     YCEDRYYLVGVQEQQCVDGEWSSALPVCKLIQEAPKPECEKALLAFQESKNLCEAMENF
                     MQQLKESGMTMEELKYSLELKKAELKAKLL"
     sig_peptide     138..188
                     /gene="C4BPB"
                     /gene_synonym="C4BP"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     189..893
                     /gene="C4BPB"
                     /gene_synonym="C4BP"
                     /product="C4b-binding protein beta chain.
                     /id=PRO_0000005892"
                     /note="propagated from UniProtKB/Swiss-Prot (P20851.1)"
     misc_feature    327..329
                     /gene="C4BPB"
                     /gene_synonym="C4BP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P20851.1); glycosylation site"
     misc_feature    348..350
                     /gene="C4BPB"
                     /gene_synonym="C4BP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718; propagated from
                     UniProtKB/Swiss-Prot (P20851.1); glycosylation site"
     misc_feature    429..431
                     /gene="C4BPB"
                     /gene_synonym="C4BP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (P20851.1);
                     glycosylation site"
     misc_feature    486..488
                     /gene="C4BPB"
                     /gene_synonym="C4BP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P20851.1); glycosylation site"
     misc_feature    597..599
                     /gene="C4BPB"
                     /gene_synonym="C4BP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P20851.1); glycosylation site"
     regulatory      935..940
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C4BPB"
                     /gene_synonym="C4BP"
                     /note="hexamer: AATAAA"
     polyA_site      960
                     /gene="C4BPB"
                     /gene_synonym="C4BP"
                     /note="major polyA site"
ORIGIN
        1 actgcaggac tttggagctc tcagctttgg agtcagttaa gaccagttcc ttgctgggaa
       61 gccctaactc tggagggaca gagacaggtg tctgagctgg gtgaattcca gcctggggag
      121 aggactttga tcaccagatg tttttttggt gtgcgtgctg tcttatggtt gcgtggcgag
      181 tttctgcttc agatgcagag cactgtccag agcttcctcc agtggacaat agcatatttg
      241 tcgcaaagga ggtggaagga cagattctgg ggacttacgt ttgtatcaag ggctaccacc
      301 tggtaggaaa gaagaccctt ttttgcaatg cctctaagga gtgggataac accactactg
      361 agtgccgctt gggccactgt cctgatcctg tgctggtgaa tggagagttc agttcttcag
      421 ggcctgtgaa tgtaagtgac aaaatcacgt ttatgtgcaa tgaccactac atcctcaagg
      481 gcagcaatcg gagccagtgt ctagaggacc acacctgggc acctcccttt cccatctgca
      541 aaagtaggga ctgtgaccct cctgggaatc cagttcatgg ctattttgaa ggaaataact
      601 tcaccttagg atccaccatt agttattact gtgaagacag gtactactta gtgggcgtgc
      661 aggagcagca atgcgttgat ggggagtgga gcagtgcact tccagtctgc aagttgatcc
      721 aggaagctcc caaaccagag tgtgagaagg cacttcttgc ctttcaggag agtaagaacc
      781 tctgcgaagc catggagaac tttatgcaac aattaaagga aagtggcatg acaatggagg
      841 agctaaaata ttctctggag ctgaagaaag ctgagttgaa ggcaaaattg ttgtaacact
      901 acagctgagc agatgtaata gaaataaacc tatgaataaa ttttcttctt ggttctgaaa
//
LOCUS       NM_001017368            7210 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens ring finger and FYVE like domain containing E3
            ubiquitin protein ligase (RFFL), transcript variant 2, mRNA.
ACCESSION   NM_001017368
VERSION     NM_001017368.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7210)
  AUTHORS   Sakai R, Fukuda R, Unida S, Aki M, Ono Y, Endo A, Kusumi S, Koga D,
            Fukushima T, Komada M and Okiyoneda T.
  TITLE     The integral function of the endocytic recycling compartment is
            regulated by RFFL-mediated ubiquitylation of Rab11 effectors
  JOURNAL   J Cell Sci 132 (3) (2019)
   PUBMED   30659120
  REMARK    GeneRIF: The integral function of the endocytic recycling
            compartment is regulated by RFFL-mediated ubiquitylation of Rab11
            effectors. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 7210)
  AUTHORS   Roder K, Kabakov A, Moshal KS, Murphy KR, Xie A, Dudley S, Turan NN,
            Lu Y, MacRae CA and Koren G.
  TITLE     Trafficking of the human ether-a-go-go-related gene (hERG) potassium
            channel is regulated by the ubiquitin ligase rififylin (RFFL)
  JOURNAL   J Biol Chem 294 (1), 351-360 (2019)
   PUBMED   30401747
  REMARK    GeneRIF: RFFL is an important regulator of voltage-gated hERG
            potassium channel activity and therefore cardiac repolarization and
            that this ubiquitination-mediated regulation requires parts of the
            ERAD pathway.
REFERENCE   3  (bases 1 to 7210)
  AUTHORS   Cheng X, Waghulde H, Mell B, Morgan EE, Pruett-Miller SM and Joe B.
  TITLE     Positional cloning of quantitative trait nucleotides for blood
            pressure and cardiac QT-interval by targeted CRISPR/Cas9 editing of
            a novel long non-coding RNA
  JOURNAL   PLoS Genet 13 (8), e1006961 (2017)
   PUBMED   28827789
  REMARK    GeneRIF: it is interesting to note that a human lncRNA does exist
            within the 5'-UTR intronic region of the human RFFL gene . Given the
            rat data, our study may serve as a translational foundation for
            considering this human lncRNA as a candidate regulator for
            cardiovascular diseases. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 7210)
  AUTHORS   Gan X, Wang C, Patel M, Kreutz B, Zhou M, Kozasa T and Wu D.
  TITLE     Different Raf protein kinases mediate different signaling pathways
            to stimulate E3 ligase RFFL gene expression in cell migration
            regulation
  JOURNAL   J Biol Chem 288 (47), 33978-33984 (2013)
   PUBMED   24114843
  REMARK    GeneRIF: EGF, which signals through CRAF, and an activated BRAF
            mutant also activate PKC and stimulate cell migration through
            up-regulating RFFL expression.
REFERENCE   5  (bases 1 to 7210)
  AUTHORS   Gan X, Wang J, Wang C, Sommer E, Kozasa T, Srinivasula S, Alessi D,
            Offermanns S, Simon MI and Wu D.
  TITLE     PRR5L degradation promotes mTORC2-mediated PKC-delta phosphorylation
            and cell migration downstream of Galpha12
  JOURNAL   Nat Cell Biol 14 (7), 686-696 (2012)
   PUBMED   22609986
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 7210)
  AUTHORS   Yang W, Rozan LM, McDonald ER 3rd, Navaraj A, Liu JJ, Matthew EM,
            Wang W, Dicker DT and El-Deiry WS.
  TITLE     CARPs are ubiquitin ligases that promote MDM2-independent p53 and
            phospho-p53ser20 degradation
  JOURNAL   J Biol Chem 282 (5), 3273-3281 (2007)
   PUBMED   17121812
REFERENCE   7  (bases 1 to 7210)
  AUTHORS   Tibbetts MD, Shiozaki EN, Gu L, McDonald ER 3rd, El-Deiry WS and Shi
            Y.
  TITLE     Crystal structure of a FYVE-type zinc finger domain from the caspase
            regulator CARP2
  JOURNAL   Structure 12 (12), 2257-2263 (2004)
   PUBMED   15576038
REFERENCE   8  (bases 1 to 7210)
  AUTHORS   Coumailleau F, Das V, Alcover A, Raposo G, Vandormael-Pournin S, Le
            Bras S, Baldacci P, Dautry-Varsat A, Babinet C and Cohen-Tannoudji
            M.
  TITLE     Over-expression of Rififylin, a new RING finger and FYVE-like
            domain-containing protein, inhibits recycling from the endocytic
            recycling compartment
  JOURNAL   Mol Biol Cell 15 (10), 4444-4456 (2004)
   PUBMED   15229288
REFERENCE   9  (bases 1 to 7210)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J,
            Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   10  (bases 1 to 7210)
  AUTHORS   McDonald ER 3rd and El-Deiry WS.
  TITLE     Suppression of caspase-8- and -10-associated RING proteins results
            in sensitization to death ligands and inhibition of tumor cell
            growth
  JOURNAL   Proc Natl Acad Sci U S A 101 (16), 6170-6175 (2004)
   PUBMED   15069192
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CR933651.1, SRR11853563.13937.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000394597.7/ ENSP00000378096.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CR933651.1, CK001659.1, BC028424.1 and AC004223.2.
            On Jun 2, 2019 this sequence version replaced NM_001017368.1.
            Transcript Variant: This variant (2) represents the shorter
            transcript but encodes the supported protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7210
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..7210
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /note="ring finger and FYVE like domain containing E3
                     ubiquitin protein ligase"
                     /db_xref="GeneID:117584"
                     /db_xref="HGNC:HGNC:24821"
                     /db_xref="MIM:609735"
     misc_feature    81..83
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /note="upstream in-frame stop codon"
     CDS             141..1232
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /EC_number="2.3.2.27"
                     /note="caspases-8 and -10-associated RING finger protein 2;
                     FYVE-RING finger protein SAKURA; RING finger protein 189;
                     caspase regulator CARP2; RING finger and FYVE-like
                     domain-containing protein 1; ring finger and FYVE-like
                     domain containing 1; caspase 8 and 10 associated RING
                     protein-2; RING-type E3 ubiquitin transferase rififylin"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase rififylin"
                     /protein_id="NP_001017368.1"
                     /db_xref="CCDS:CCDS11286.1"
                     /db_xref="GeneID:117584"
                     /db_xref="HGNC:HGNC:24821"
                     /db_xref="MIM:609735"
                     /translation="MWATCCNWFCLDGQPEEVPPPQGARMQAYSNPGYSSFPSPTGLEP
                     SCKSCGAHFANTARKQTCLDCKKNFCMTCSSQVGNGPRLCLLCQRFRATAFQREELMKM
                     KVKDLRDYLSLHDISTEMCREKEELVLLVLGQQPVISQEDRTRASTLSPDFPEQQAFLT
                     QPHSSMVPPTSPNLPSSSAQATSVPPAQVQENQQANGHVSQDQEEPVYLESVARVPAED
                     ETQSIDSEDSFVPGRRASLSDLTDLEDIEGLTVRQLKEILARNFVNYKGCCEKWELMER
                     VTRLYKDQKGLQHLVSGAEDQNGGAVPSGLEENLCKICMDSPIDCVLLECGHMVTCTKC
                     GKRMNECPICRQYVIRAVHVFRS"
     misc_feature    633..767
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ73.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    816..818
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q8WZ73.1); phosphorylation site"
     misc_feature    825..827
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8WZ73.1); phosphorylation site"
     misc_feature    834..836
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZQM0; propagated from
                     UniProtKB/Swiss-Prot (Q8WZ73.1); phosphorylation site"
     misc_feature    858..860
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZQM0; propagated from
                     UniProtKB/Swiss-Prot (Q8WZ73.1); phosphorylation site"
     regulatory      1443..1448
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /note="hexamer: TATAAA"
     polyA_site      1476
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /note="major polyA site"
     regulatory      4066..4071
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /note="hexamer: AATAAA"
     polyA_site      4086
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /note="major polyA site"
     regulatory      5283..5288
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /note="hexamer: AATACA"
     polyA_site      5303
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
     regulatory      6202..6207
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /note="hexamer: AATAAA"
     polyA_site      6231
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
     regulatory      6892..6897
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /note="hexamer: ATTAAA"
     polyA_site      6909
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
     regulatory      7067..7072
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /note="hexamer: AATAAA"
     polyA_site      7093
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
     regulatory      7186..7191
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
                     /note="hexamer: ATTAAA"
     polyA_site      7210
                     /gene="RFFL"
                     /gene_synonym="CARP-2; CARP2; FRING; RIFIFYLIN; RNF189;
                     RNF34L"
ORIGIN
        1 acttcacatg aaagccgctg ctcttggttc ctgagatgat ctcatctgaa catggctcca
       61 gcgacctcag ccacaggaac tagagacagc ttgctttctg tcgtggcaat gttttgaaac
      121 tggcaaaatc agattttatc atgtgggcaa cctgctgcaa ctggttctgc ctggatggac
      181 agcctgagga ggtcccacca ccccagggag ccaggatgca ggcctattcc aaccctgggt
      241 acagctcctt cccttcccca acaggcttgg aaccaagctg caagtcctgt ggggctcact
      301 ttgcaaacac ggccaggaag cagacctgct tggactgtaa gaaaaatttt tgcatgacct
      361 gttcgagcca agtagggaat gggccccgcc tctgccttct ctgccaacgg tttcgagcta
      421 cagcctttca gcgagaggag ctcatgaaga tgaaggtgaa ggacttgagg gactatctca
      481 gcctccatga catctctacc gaaatgtgcc gggagaaaga agagctggtg ctcttggtcc
      541 ttggccagca gcctgtaatc tcccaggagg acaggactcg tgcctccacc ttgtccccag
      601 actttcctga gcagcaggcc ttcctgaccc agcctcactc cagcatggtt ccacctacct
      661 cacccaacct cccctcttca tctgcacaag ccacctctgt tcccccagcc caggttcagg
      721 agaatcagca ggccaatggc catgtgtctc aggatcaaga ggaacccgtc tacctggaga
      781 gcgtggccag agtacctgct gaggatgaga cccagtctat tgactcagag gacagctttg
      841 tcccaggccg aagggcctct ctgtctgacc tgactgacct ggaggacatt gaaggcctga
      901 cagtgcggca gctgaaagag atcttggctc gcaactttgt caactacaag ggctgctgtg
      961 agaagtggga gctgatggag agagtgaccc ggctatacaa ggatcagaaa ggactccagc
     1021 acctggtcag tggtgccgaa gaccaaaacg ggggagcagt accatcaggc ttggaggaga
     1081 acctgtgtaa gatctgcatg gactcaccca ttgactgtgt tcttctggag tgtggccaca
     1141 tggtaacctg taccaagtgt ggcaagcgca tgaatgaatg tcccatctgc cggcagtatg
     1201 taatccgagc tgtgcatgtc ttccggtcct gagagcttgc atcggtttct tcagtgcctt
     1261 acagggaaat agcctggggt gtctgggctc agggttggcc agcttgcaga ggagcaagct
     1321 agtagaaata ttgcagggtt cccaaaacca ggtcaagcaa gatgccatgt cacccctgag
     1381 catgcctgtc ttcccagggg tgtacctctt ggctggcaaa gcccaaggcc agtgggaact
     1441 tgtataaatc acatgggtat gttcttggtt cagtgatctt ggagtgatga tggtaactga
     1501 tgaacagaga actttccaga acttgggtcc tgtcttcctc cctgaaccta gacagtttca
     1561 cccctcctcc tgtacccaac ccatccccac cccatatggg agatgcttgc ccatgtgttt
     1621 catcaatcag aagtcctcct ccccagcaca ttcggattta aatttctggt ctctccggct
     1681 ttctgtgctt taactatctt tgctaaagtc tcttgctaca ttgcctaaat ccatttgttt
     1741 ctttggacca aaaatgttag tttaccagac cgatagtggt ccttaggaca gattttagac
     1801 cagtaaactt atctttggtg agaaatgaaa tacaaatgct atagaaaaat ttcaaagttg
     1861 ttaaaagcca cttcattaaa tgctgggatt ggaagctgtt ggtctcctga cctgactctg
     1921 ggagccaaca aaacatcagg ctcccaaact gctgggaaat ttgtttctgt ctgcaaggga
     1981 tagtgcgtgc ataatccctg ctgctgcttc tcttgggacc tgatttgcac catccttagt
     2041 ttatgcggaa aggggaagca atgggtggag gcagtggcct tctccttaat tttggcttgg
     2101 cttctgatcc ttttcccaac tagaagtctt aagccacttt tcgctgaaaa tgaaatccct
     2161 cccttatcca tggtagtttt aaatttggtt tcattgaaga aatagattta ggcaaagagc
     2221 ctgtgctctt ctctggccag actgctgttg aagttcctgg agagcaaatg ttaagacaga
     2281 gcacttaaga gctttcagga ggtactgaat gagactggat tctgttgtaa gccgacagtt
     2341 caagtcttta tttcccaggt tggtggggag tgaggagacc ctactttcat tccctttcct
     2401 agcccactga tttttggggg caggtcaggg agaaagcatt tttttttttt ttttgagtct
     2461 cactctgttg cccaggctgg agtgcagtgg tacagtcttg gcttactgca acctccacct
     2521 cccaggttca agctattctc ctgccttagc ctccagagta gctgggatta taggcgccca
     2581 ccaccacacc aggctaattt ttgtattttt agtagagacg gggttttacc atgttcacca
     2641 ggctggtctt gaactcttga ccttatgatc cgcccgcctc agcttcccaa agtgctggga
     2701 ttacaggcgt gagccaccac acccagcagg agaaaccatt ttctaggctc tttaggaagg
     2761 accatgcaat gagtaggtga tgtatttgag ccctcacagt ctttacaccc ctagaggagc
     2821 tggaggactt aagagtttgc tgcagaagcg tggccaagca caaaacacat gatcaggaaa
     2881 gcagagtgtt ttcccattac caatggatga actatgcaaa ccctaaacgc cttggcagac
     2941 acctcccacc ccttacccct cccatgcagc tgaaaaatct gagactagaa ccaatcatga
     3001 ctctggatgg cagagggaaa cctctaaagg gacttattac attggtacag acatatttat
     3061 gctttcttcc atcaccaacc actaaacccc tttggaggaa tgaaataact gcataaacta
     3121 gtcaactgaa cactgggcca cttacctcaa tgttatacaa agtcctggat gatttgattc
     3181 tgaaccacag cctttgcagg agttggggga atcagatttg ctcatgaaga catccctttc
     3241 cacttttgtc atgggcagta aatactatag tttacaatgc ctaccaatta gcaaaggatc
     3301 attcattcag ctactcagtt cctctgtaaa acaggtctat gtatgtgcaa ttcagctaag
     3361 atctagcagt aacttaaggg cagaagctgg ctctctactt acaacctgct ttctctgctg
     3421 aagccttacc tcctcttcag tttccctcct agacacaaat cgaaaataat atactgatag
     3481 ctggttagta acctcagtaa gaattaaaac tgaggttgtt tactcatttt gcctttaaat
     3541 cttttatccc cttttggtga aggtttccct ttaggaaaaa aggtgtcaaa caaccctgat
     3601 tttttttttt tttgcatcat ttttattaca ccaaattaaa gttgggagtt ccaagatccc
     3661 attccagtta atatttaacc aaggtctaaa atttgatttt ttttaaatct ttgaatcctc
     3721 ccttctgccc ctcatggatc cttggtttta atgatatgga aacatctaat tcttagaatt
     3781 attccgtagc ttttgctgat tactctgaga tttcagttaa gacttgtttc aaaagacaga
     3841 tagctgactg gttcataata cattggaata gttggatcca aactaataag aataagctgt
     3901 acaggaacta gtgctcaata tacattgtat aaatttgtgg aaatctcttg gatgtgaatt
     3961 gttacttcaa gtggctttta ttaagatttt ctcagactta cttggaggtt aaagcaaacc
     4021 caaatgtgta ttattttgtt acagagctct gctttataat tttgtaataa agtttcaata
     4081 cagacacctg tcctgtctgg tgcgaggatg ttagaggttg ataggactga caaaagagcc
     4141 tgacagtggt tcatgctata atttccacac tttaggaggc caaggtggga agactgcttg
     4201 agctcaggag tttgagacca acctgggcaa tgtagtgaga ccttgtctct acttaaaaaa
     4261 acaaacaagg gccgggtgcg gtggctcacg cctgtaatcc cagcactttg ggaggctgag
     4321 gcgggcagat cacgaggtca ggagatcgag accaccctgg ctaacacggt gaaaccccgt
     4381 ctctactaaa aatacaaaaa attagccagg cgtggtggcg ggtgcctgta gtcccagcta
     4441 ctcgggaggc tgaggcagga gaatggtgtg aacccgggag gcggagcttg cagtgagcca
     4501 agattgcgcc actgcagtcc ggcctgggcg aaagagcgag actctgtctc aaaaaacaaa
     4561 acaaaaaaaa acacaaacaa aaaacccaaa aaaaccaaaa aattagccgt gcatggtggt
     4621 gcatgtgggt agtcccaact acttggaagg ctgaggtggg aggatcactt gagccaggag
     4681 attgaagctg cagtgagctc tgatcgccac cgcactccag ccagggtgac agagtgagac
     4741 cctgtattaa aaaaaaaaaa aaattgacaa ctgataaacc acaagctaat cctgggatgt
     4801 gcacatggcc tgggattagc ctgtggttgg gccaagtgac cttggtcaag atgctcagtg
     4861 ttgttgtaac taactaactt gctcaagacc acaaatgtaa tatatggaag aggccatgga
     4921 acaacctaga agagaatgag agctgggtag gtaaaggatg aatcccaaga ccaattgggt
     4981 tgaagcacca agtgagttca gatatttaca ctgatctaga agagatgggc cttaaagaac
     5041 tgaaatctga ggacagttag tatgcccagt taggtcttca ggttaccctg ggagatacat
     5101 ggtacctttt ggatacagct gtagtacagc tggactatgg ctcagaaaag gttggcccag
     5161 gctgggcgcc atggctcacg cctgtaatcc cagcactttg ggaggctgag gtgcgtggat
     5221 gactcgaggc caggagtttg agaccagtct ggacaacatg gcgaaacgtg gtctctacta
     5281 aaaatacaaa aacttagctg cgagtgatgg tgtgtgcctg tttgttaagt cttagccact
     5341 tgggaggctg aggcatgaga attgcttgtg aacccgggaa gcagaggttg cagtgagctg
     5401 agattgcacc actgcactcc agcctgaatg acagagcaag agtctgttta aaaaaaaaaa
     5461 aaaggttggc ccagcctcgt gacagactgc tgtgtgtgcg caggcttgta caaacctccc
     5521 tgaccaggcg cccaaggagc agggaaaaga ctactgagaa tgcagcccct gggagaacaa
     5581 gattatgtgt ccatctgctg tgactgagaa gagaaaggaa tcttgccaaa agggcataaa
     5641 ggatcgagga tgagccacaa cactttgctc acattgccct agggagctga cctgttcagc
     5701 acccagtgat gacctctgct tgatgccagc cagcagcatg tagaggttca gaagagggag
     5761 gcctccagca ttctgctgga gagatttatg atgatgatgt tgagggctgc attgaaatac
     5821 atgaaagaaa tacatgaaag gatacaaaat agtatataca gtcagatctc agcagcaaag
     5881 actggaagaa aatacataaa aaaccactga cattgaaatg gcaataacac acactaaggc
     5941 agagaaggga caagatgatc acctgcagcc agcagaggcc ctttcctgtg agtgtgcact
     6001 ctgggtgtaa gcaaccaata agggcaagtg gggctgggtc caggttggag aggacagtgc
     6061 ctttggcagg atcctgagga gacagccttg ttctgctgcc ctgtccggtt gtttgtttgg
     6121 cctgaggctg aagagagaaa tggaaatcta tgtaggtcag tactcaaagg aggagcagct
     6181 ttttgtctcc atagaggatg gaataaaaag tatcttattc ctaatactga agcaaggctg
     6241 aatggtgcct attcaaaaac accaaatgtc ctgggctaga gtcaggaaag taaacccctc
     6301 ccccgtgctg tccctactcc cccaacatac acattttaaa cagtaggtgg aagccaaagt
     6361 caatcagatc aaagttgggg gggggcggtg gggtggccag ggggcgcagt ggtccttgat
     6421 cttataggtc cagagcctgt taatttgttc ataaggtgag aactgaccct caagagctgg
     6481 aaggattggg acatggcagc cagtttacaa ccatatggtg tcctgatgag cctgcactca
     6541 gagtggagtg ttggctggaa catgcacacc tgcaactgag ggttctaaag tcataggtta
     6601 ggcccttctc ccgggtaggg tctggacatg cacaccagga gtgacgttcc caactctaga
     6661 taactatgtg ctaggctctg ggctaagtgc tttacataat gttgctcagg acaacaggac
     6721 aaccctatga tttaggtgca cccattctac ttggagggat tgaggcttag atgttaacgt
     6781 aacttgccta aggttagagc cattaagttt caggagtctg atctgaactc cgtctacacc
     6841 tgcactgtcc agtgtggtag tcactagtga catgtgacca tttgaagttg aattaaaata
     6901 agaacttcag ttccttagtt gtgccagctt catttcaatt gctcagcagc tgtctgtggc
     6961 tagtttggtt ggatactgca gatttatgga tatttccact gctgcaaaaa gttctattga
     7021 atagcacttg tctacactaa attgtctctc ttccttttgt tcttcaaata aatcagcctc
     7081 aggtagcaca ggagctgttc tttgtaagca ggttgtatgg atctgttctc aggtgtggat
     7141 ttttattttt ttccctgcag atatggagta tattttcttt aagaaattaa aaactaagaa
     7201 gaaaatgcca
//
LOCUS       NM_001017372            2863 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens solute carrier family 27 member 6 (SLC27A6), transcript
            variant 2, mRNA.
ACCESSION   NM_001017372
VERSION     NM_001017372.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2863)
  AUTHORS   Liu C, Wang J, Li D, Ni R, Zhao M, Huang C and Liu S.
  TITLE     Solute Carrier Family 27 Member 6 (SLC27A6) Possibly Promotes the
            Proliferation of Papillary Thyroid Cancer by Regulating c-MYC
  JOURNAL   Biochem Genet 60 (6), 2313-2326 (2022)
   PUBMED   35348939
  REMARK    GeneRIF: Solute Carrier Family 27 Member 6 (SLC27A6) Possibly
            Promotes the Proliferation of Papillary Thyroid Cancer by Regulating
            c-MYC.
REFERENCE   2  (bases 1 to 2863)
  AUTHORS   Yen MC, Chou SK, Kan JY, Kuo PL, Hou MF and Hsu YL.
  TITLE     New Insight on Solute Carrier Family 27 Member 6 (SLC27A6) in
            Tumoral and Non-Tumoral Breast Cells
  JOURNAL   Int J Med Sci 16 (3), 366-375 (2019)
   PUBMED   30911270
  REMARK    GeneRIF: Inverse correlation between SLC27A6 expression and breast
            tumoral tissues.SLC27A6role in the cell growth and cell cycle
            regulation in non-tumorigenic breast cells. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 2863)
  AUTHORS   Auinger A, Helwig U, Pfeuffer M, Rubin D, Luedde M, Rausche T,
            Eddine El Mokhtari N, Folsch UR, Schreiber S, Frey N and
            Schrezenmeir J.
  TITLE     A variant in the heart-specific fatty acid transport protein 6 is
            associated with lower fasting and postprandial TAG, blood pressure
            and left ventricular hypertrophy
  JOURNAL   Br J Nutr 107 (10), 1422-1428 (2012)
   PUBMED   21920065
  REMARK    GeneRIF: The FATP6-7T>A polymorphism may protect from traits of the
            metabolic syndrome and CVD.
REFERENCE   4  (bases 1 to 2863)
  AUTHORS   Watkins PA, Maiguel D, Jia Z and Pevsner J.
  TITLE     Evidence for 26 distinct acyl-coenzyme A synthetase genes in the
            human genome
  JOURNAL   J Lipid Res 48 (12), 2736-2750 (2007)
   PUBMED   17762044
REFERENCE   5  (bases 1 to 2863)
  AUTHORS   Gimeno RE, Ortegon AM, Patel S, Punreddy S, Ge P, Sun Y, Lodish HF
            and Stahl A.
  TITLE     Characterization of a heart-specific fatty acid transport protein
  JOURNAL   J Biol Chem 278 (18), 16039-16044 (2003)
   PUBMED   12556534
  REMARK    GeneRIF: FATP6 is involved in heart LCFA uptake, in which it may
            play a role in the pathogenesis of lipid-related cardiac disorders.
REFERENCE   6  (bases 1 to 2863)
  AUTHORS   Steinberg SJ, Mihalik SJ, Kim DG, Cuebas DA and Watkins PA.
  TITLE     The human liver-specific homolog of very long-chain acyl-CoA
            synthetase is cholate:CoA ligase
  JOURNAL   J Biol Chem 275 (21), 15605-15608 (2000)
   PUBMED   10749848
REFERENCE   7  (bases 1 to 2863)
  AUTHORS   Steinberg SJ, Wang SJ, McGuinness MC and Watkins PA.
  TITLE     Human liver-specific very-long-chain acyl-coenzyme A synthetase:
            cDNA cloning and characterization of a second enzymatically active
            protein
  JOURNAL   Mol Genet Metab 68 (1), 32-42 (1999)
   PUBMED   10479480
REFERENCE   8  (bases 1 to 2863)
  AUTHORS   Watkins PA, Pevsner J and Steinberg SJ.
  TITLE     Human very long-chain acyl-CoA synthetase and two human homologs:
            initial characterization and relationship to fatty acid transport
            protein
  JOURNAL   Prostaglandins Leukot Essent Fatty Acids 60 (5-6), 323-328 (1999)
   PUBMED   10471116
REFERENCE   9  (bases 1 to 2863)
  AUTHORS   Hirsch D, Stahl A and Lodish HF.
  TITLE     A family of fatty acid transporters conserved from mycobacterium to
            man
  JOURNAL   Proc Natl Acad Sci U S A 95 (15), 8625-8629 (1998)
   PUBMED   9671728
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.66017.1,
            SRR1803613.216789.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000262462.9/ ENSP00000262462.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004636.1, AL833117.1,
            AF064254.1, AA614135.1 and BX537383.1.
            On Nov 22, 2018 this sequence version replaced NM_001017372.2.
            Summary: This gene encodes a member of the fatty acid transport
            protein family (FATP). FATPs are involved in the uptake of
            long-chain fatty acids and have unique expression patterns.
            Alternatively spliced transcript variants encoding the same protein
            have been found for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) has an additional segment in
            the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the
            same protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2863
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.3"
     gene            1..2863
                     /gene="SLC27A6"
                     /gene_synonym="ACSVL2; FACVL2; FATP6; VLCS-H1"
                     /note="solute carrier family 27 member 6"
                     /db_xref="GeneID:28965"
                     /db_xref="HGNC:HGNC:11000"
                     /db_xref="MIM:604196"
     misc_feature    543..545
                     /gene="SLC27A6"
                     /gene_synonym="ACSVL2; FACVL2; FATP6; VLCS-H1"
                     /note="upstream in-frame stop codon"
     CDS             651..2510
                     /gene="SLC27A6"
                     /gene_synonym="ACSVL2; FACVL2; FATP6; VLCS-H1"
                     /EC_number="6.2.1.3"
                     /EC_number="6.2.1.15"
                     /note="fatty-acid-Coenzyme A ligase, very long-chain 2;
                     very long-chain acyl-CoA synthetase homolog 1; solute
                     carrier family 27 (fatty acid transporter), member 6;
                     long-chain-fatty-acid--CoA ligase; acyl-CoA synthetase very
                     long chain family, member 2; arachidonate--CoA ligase"
                     /codon_start=1
                     /product="long-chain fatty acid transport protein 6"
                     /protein_id="NP_001017372.1"
                     /db_xref="CCDS:CCDS4145.1"
                     /db_xref="GeneID:28965"
                     /db_xref="HGNC:HGNC:11000"
                     /db_xref="MIM:604196"
                     /translation="MLLSWLTVLGAGMVVLHFLQKLLFPYFWDDFWFVLKVVLIIIRLK
                     KYEKRGELVTVLDKFLSHAKRQPRKPFIIYEGDIYTYQDVDKRSSRVAHVFLNHSSLKK
                     GDTVALLMSNEPDFVHVWFGLAKLGCVVAFLNTNIRSNSLLNCIRACGPRALVVGADLL
                     GTVEEILPSLSENISVWGMKDSVPQGVISLKEKLSTSPDEPVPRSHHVVSLLKSTCLYI
                     FTSGTTGLPKAAVISQLQVLRGSAVLWAFGCTAHDIVYITLPLYHSSAAILGISGCVEL
                     GATCVLKKKFSASQFWSDCKKYDVTVFQYIGELCRYLCKQSKREGEKDHKVRLAIGNGI
                     RSDVWREFLDRFGNIKVCELYAATESSISFMNYTGRIGAIGRTNLFYKLLSTFDLIKYD
                     FQKDEPMRNEQGWCIHVKKGEPGLLISRVNAKNPFFGYAGPYKHTKDKLLCDVFKKGDV
                     YLNTGDLIVQDQDNFLYFWDRTGDTFRWKGENVATTEVADVIGMLDFIQEANVYGVAIS
                     GYEGRAGMASIILKPNTSLDLEKVYEQVVTFLPAYACPRFLRIQEKMEATGTFKLLKHQ
                     LVEDGFNPLKISEPLYFMDNLKKSYVLLTRELYDQIMLGEIKL"
     misc_feature    714..776
                     /gene="SLC27A6"
                     /gene_synonym="ACSVL2; FACVL2; FATP6; VLCS-H1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2P4.1);
                     transmembrane region"
     misc_feature    1005..1067
                     /gene="SLC27A6"
                     /gene_synonym="ACSVL2; FACVL2; FATP6; VLCS-H1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2P4.1);
                     transmembrane region"
     regulatory      2847..2852
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC27A6"
                     /gene_synonym="ACSVL2; FACVL2; FATP6; VLCS-H1"
                     /note="hexamer: ATTAAA"
     polyA_site      2863
                     /gene="SLC27A6"
                     /gene_synonym="ACSVL2; FACVL2; FATP6; VLCS-H1"
                     /note="major polyA site"
ORIGIN
        1 aacccgctgg ccctgaggcc acggaccgag acgtggtgct gagcccctgc gcggtttctg
       61 gtgcgtagag actgtaaatc gctgcgcttc tcagtcatca tcatcccagc ttttcccggc
      121 tcgaattcag cctccaactc aagctcgcgg gaaagactac ctgagaggag aaaagcttct
      181 gtccctggac cttcttctga gggtggtgag gtttgtttag ggtcgcagaa gcagggagga
      241 ctgactcagc cctcacagag aagaggtctg gaaagtcctg gggaactcgc agggcacggg
      301 ccgctgtcgc ggttgggagg cgagggcgca gcgctggggt tgtagattcc aagacccctg
      361 agggtggctg tgttggtttc tcgcaggagt cggaggctcc ctgctttcca gccgcccagt
      421 gacccaagct taatcttcag caccacttgg ggcgaccttt tcggtgcaaa cctacgattc
      481 tgtttctcag gattcctccc catcccgctt cgccccggaa aagctgacaa gaacttcagg
      541 tgtaagccct gagtagtgag gatctgcggt ctccgtggag agctgtgcct ggaagagaag
      601 gacgctggtg ggggctgaga tcagagctgt cttctggccc agttgccccc atgcttctgt
      661 catggctaac agttctaggg gctggaatgg tcgtcctgca cttcttgcag aaactcctgt
      721 tcccttactt ttgggatgac ttctggttcg tgttgaaggt ggtgctcatt ataattcggc
      781 tgaagaagta tgaaaagaga ggggagctgg tgactgtgct ggataaattc ttgagtcatg
      841 ccaaaagaca acctcggaaa cctttcatca tctatgaggg agacatctac acctatcagg
      901 atgtagacaa aaggagcagc agagtggccc atgtcttcct gaaccattcc tctctgaaaa
      961 agggggacac ggtggctctg ctgatgagca atgagccgga cttcgttcac gtgtggttcg
     1021 gcctcgccaa gctgggctgc gtggtggcct ttctcaacac caacattcgc tccaactccc
     1081 tcctgaattg catccgcgcc tgtgggccca gagccctagt ggtgggcgca gatttgcttg
     1141 gaacggtaga agaaatcctt ccaagcctct cagaaaatat cagtgtttgg gggatgaaag
     1201 attctgttcc acaaggtgta atttcactca aagaaaaact gagcacctca cctgatgagc
     1261 ccgtgccacg cagccaccat gttgtctcac tcctcaagtc tacttgtctt tacattttta
     1321 cctctggaac aacaggtcta ccaaaagcag ctgtgattag tcagctgcag gttttaaggg
     1381 gttctgctgt cctgtgggct tttggttgta ctgctcatga cattgtttat ataacccttc
     1441 ctctgtatca tagttcagca gctatcctgg gaatttctgg atgtgttgag ttgggtgcca
     1501 cttgtgtgtt aaagaagaaa ttttcagcaa gccagttttg gagtgactgc aagaagtatg
     1561 atgtgactgt gtttcagtat attggagaac tttgtcgcta cctttgcaaa caatctaaga
     1621 gagaaggaga aaaggatcat aaggtgcgtt tggcaattgg aaatggcata cggagtgatg
     1681 tatggagaga atttttagac agatttggaa atataaaggt gtgtgaactt tatgcagcta
     1741 ccgaatcaag catatctttc atgaactaca ctgggagaat tggagcaatt gggagaacaa
     1801 atttgtttta caaacttctt tccacttttg acttaataaa gtatgacttt cagaaagatg
     1861 aacccatgag aaatgagcag ggttggtgta ttcatgtgaa aaaaggagaa cctggacttc
     1921 tcatttctcg agtgaatgca aaaaatccct tctttggcta tgctgggcct tataagcaca
     1981 caaaagacaa attgctttgt gatgttttta agaagggaga tgtttacctt aatactggag
     2041 acttaatagt ccaggatcag gacaatttcc tttatttttg ggaccgtact ggagacactt
     2101 tcagatggaa aggagaaaat gtcgcaacca ctgaggttgc tgatgttatt ggaatgttgg
     2161 atttcataca ggaagcaaac gtctatggtg tggctatatc aggttatgaa ggaagagcag
     2221 gaatggcttc tattatttta aaaccaaata catctttaga tttggaaaaa gtttatgaac
     2281 aagttgtaac atttctacca gcttatgctt gtccacgatt tttaagaatt caggaaaaaa
     2341 tggaagcaac aggaacattc aaactattga agcatcagtt ggtggaagat ggatttaatc
     2401 cactgaaaat ttctgaacca ctttacttca tggataactt gaaaaagtct tatgttctac
     2461 tgaccaggga actttatgat caaataatgt taggggaaat aaaactttaa gatttttata
     2521 tctagaactt tcatatgctt tcttaggaag agtgagaggg gggtatatga ttctttatga
     2581 aatggggaaa gggagctaac attaattatg catgtactat atttccttaa tatgagagat
     2641 aattttttaa ttgcataaga attttaattt cttttaattg atataaacag tagttgatta
     2701 ttctttttat ctatttggag attcagtgca taactaagta ttttccttaa tactaaagat
     2761 tttaaataat aaatagtggc tagcggtttg gacaatcact aaaaatgtac tttctaataa
     2821 gtaaaatttc taattttgaa taaaagatta aattttactg aaa
//
LOCUS       NM_001017373            2093 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens sterile alpha motif domain containing 3 (SAMD3),
            transcript variant 1, mRNA.
ACCESSION   NM_001017373
VERSION     NM_001017373.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2093)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2093)
  AUTHORS   Jeff JM, Ritchie MD, Denny JC, Kho AN, Ramirez AH, Crosslin D,
            Armstrong L, Basford MA, Wolf WA, Pacheco JA, Chisholm RL, Roden DM,
            Hayes MG and Crawford DC.
  TITLE     Generalization of variants identified by genome-wide association
            studies for electrocardiographic traits in African Americans
  JOURNAL   Ann Hum Genet 77 (4), 321-332 (2013)
   PUBMED   23534349
REFERENCE   3  (bases 1 to 2093)
  AUTHORS   Weimann M, Grossmann A, Woodsmith J, Ozkan Z, Birth P, Meierhofer D,
            Benlasfer N, Valovka T, Timmermann B, Wanker EE, Sauer S and Stelzl
            U.
  TITLE     A Y2H-seq approach defines the human protein methyltransferase
            interactome
  JOURNAL   Nat Methods 10 (4), 339-342 (2013)
   PUBMED   23455924
REFERENCE   4  (bases 1 to 2093)
  AUTHORS   Docherty SJ, Kovas Y and Plomin R.
  TITLE     Gene-environment interaction in the etiology of mathematical ability
            using SNP sets
  JOURNAL   Behav Genet 41 (1), 141-154 (2011)
   PUBMED   20978832
  REMARK    GeneRIF: Observational study of gene-disease association, gene-gene
            interaction, and gene-environment interaction. (HuGE Navigator)
REFERENCE   5  (bases 1 to 2093)
  AUTHORS   Docherty SJ, Kovas Y, Petrill SA and Plomin R.
  TITLE     Generalist genes analysis of DNA markers associated with
            mathematical ability and disability reveals shared influence across
            ages and abilities
  JOURNAL   BMC Genet 11, 61 (2010)
   PUBMED   20602751
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2093)
  AUTHORS   Gudbjartsson DF, Walters GB, Thorleifsson G, Stefansson H,
            Halldorsson BV, Zusmanovich P, Sulem P, Thorlacius S, Gylfason A,
            Steinberg S, Helgadottir A, Ingason A, Steinthorsdottir V,
            Olafsdottir EJ, Olafsdottir GH, Jonsson T, Borch-Johnsen K, Hansen
            T, Andersen G, Jorgensen T, Pedersen O, Aben KK, Witjes JA, Swinkels
            DW, den Heijer M, Franke B, Verbeek AL, Becker DM, Yanek LR, Becker
            LC, Tryggvadottir L, Rafnar T, Gulcher J, Kiemeney LA, Kong A,
            Thorsteinsdottir U and Stefansson K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat Genet 40 (5), 609-615 (2008)
   PUBMED   18391951
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK091882.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000439090.7/ ENSP00000403565.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK091882.1, AL355581.14, AK302228.1 and AI129628.1.
            On Nov 22, 2018 this sequence version replaced NM_001017373.3.
            Transcript Variant: This variant (1) encodes isoform 1. Both
            variants 1 and 3 encode the same isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2093
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.1"
     gene            1..2093
                     /gene="SAMD3"
                     /note="sterile alpha motif domain containing 3"
                     /db_xref="GeneID:154075"
                     /db_xref="HGNC:HGNC:21574"
                     /db_xref="MIM:620516"
     misc_feature    263..265
                     /gene="SAMD3"
                     /note="upstream in-frame stop codon"
     CDS             326..1888
                     /gene="SAMD3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sterile alpha motif domain-containing protein 3; SAM
                     domain-containing protein 3"
                     /codon_start=1
                     /product="sterile alpha motif domain-containing protein 3
                     isoform 1"
                     /protein_id="NP_001017373.2"
                     /db_xref="CCDS:CCDS34539.1"
                     /db_xref="GeneID:154075"
                     /db_xref="HGNC:HGNC:21574"
                     /db_xref="MIM:620516"
                     /translation="METWSVEQVCSWLVEKNLGELVHRFQEEEVSGAALLALNDRMVQQ
                     LVKKIGHQAVLMDLIKKYKQNTQGLKSPENPKKAALVMQTEAARDYRDEESSSPARHGE
                     QMPSFYPAENLDNGLIDQRVLKQRRNVKQILARSKALQWTKSYVLPEFPYDVKCMLAEQ
                     KCPDHSMRIRIIEFLQADMTKYLEGSLYPSTQQYNDVVNALLQAHPFLDEDGCGFFLWK
                     RALKDRFKYVRRPIEDDEQVIRNKCKFGHRRGQTRKSLADIRFDEIKLVQIKEEAVCFD
                     SELDEHIKWFQQEYVKTEKDWREIDKRMSQTLEIRRKMIGSRTPLKDILKLFPFLKCPY
                     QMFREFQLLTRTDIYKKTRHILESYSENILTSFSVVDNPINIVLQEKMKHYTDEDMLKY
                     MKMTATCLLLPDVFGDDPSLFVIMNEQVQVSTPVLEVKNPFNMEVCEFSLYLERERLTK
                     VDDCVTALAALVAAFHVFRIECPRRLSQTFNFLETLIFDMHSPYFPSLKEKENEVGFQH
                     PLT"
     misc_feature    578..667
                     /gene="SAMD3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6K7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2072..2077
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAMD3"
                     /note="hexamer: AATAAA"
     polyA_site      2093
                     /gene="SAMD3"
                     /note="major polyA site"
ORIGIN
        1 agtcttgctg tctttcaatg gggcagccac tgctcagttg ctgccattca gaaatatgaa
       61 cccagtatca ccagaacttt tgatttttca agagaaacca agattccaga tttgtaggtg
      121 atatcttcca tttttcagat aaaacaaagg aaccagaacc acatccactg atcggatttg
      181 cctggggagg aggggtgctc tctcctttga tcttctcttc tggaagagat ggaccaaaag
      241 cctctccagc aataatccga aatgattctt gaagactatc tttccagctt gtcacatatg
      301 caaggtgtat ttacaggaga cagcaatgga aacctggtca gttgagcagg tctgcagttg
      361 gttggtggag aaaaatttag gagagctagt tcatagattt caagaggaag aagtaagtgg
      421 ggccgctctt cttgcactta atgatcggat ggttcagcaa ctggtaaaga aaattgggca
      481 ccaggctgtt ctgatggatt taattaaaaa atacaagcag aacactcaag gactgaagtc
      541 cccagaaaac cccaaaaagg cagccctggt catgcaaaca gaagcagctc gagattacag
      601 ggatgaagag tcctccagtc cagccaggca tggggagcag atgccatctt tctatccagc
      661 tgaaaacctt gataatggac taattgacca aagagtattg aaacagagaa gaaatgtgaa
      721 acaaattcta gcaagaagca aagcattaca gtggacgaag tcctatgttt taccagagtt
      781 tccctatgat gtcaaatgca tgttagcaga gcagaagtgc ccggatcaca gcatgaggat
      841 aaggatcatt gagtttctcc aggccgacat gactaagtat ctggaaggct cactgtaccc
      901 cagcacccag cagtacaatg acgtggttaa tgccctgctg caggcccacc ctttcctgga
      961 tgaggatggc tgtggcttct ttttatggaa acgagccctc aaagatcgct ttaaatatgt
     1021 tcgaagaccc atagaagatg atgagcaagt gattagaaat aagtgtaaat ttggacaccg
     1081 aagaggccag acaaggaaat ctcttgctga tataagattt gatgaaatta aacttgtcca
     1141 gataaaagaa gaagctgttt gttttgattc tgagctagat gaacatatta agtggttcca
     1201 gcaagaatac gtgaaaacag aaaaggactg gagagaaatt gacaagagaa tgagccaaac
     1261 tttggaaata agaagaaaga tgattggcag ccgaacacct ctgaaggaca ttcttaaact
     1321 gtttcctttc ttgaagtgcc cttatcagat gttcagagaa ttccaacttc ttacaagaac
     1381 agatatttat aagaaaacaa ggcacatttt ggaatcctat tcagaaaata tactgacttc
     1441 tttttcagtg gtggacaatc caatcaatat tgtattgcaa gaaaaaatga aacattacac
     1501 agatgaagac atgttgaaat acatgaagat gacagccaca tgtttactcc tcccagatgt
     1561 ttttggggat gatcccagcc tttttgtcat catgaatgaa caggtgcaag tgtccacacc
     1621 tgtgttggaa gttaaaaacc ctttcaacat ggaggtctgc gaattttctt tatatttaga
     1681 aagggagagg ctcacaaagg tggacgactg tgttacagcc ttggctgcgc tagtagctgc
     1741 ctttcatgta tttaggattg agtgtccaag aagactgtcc caaactttca acttcctaga
     1801 aacgctgatt ttcgatatgc acagtcctta ttttccttct ttgaaagaaa aggaaaacga
     1861 agtaggattt cagcacccac tcacttaata gcatgccaaa tattgtactg gaatttacct
     1921 ctgggaaaac tgaagcttca taagaaattg ttttgattta gggttgtggt agaggtaggt
     1981 atgagaaaat catcttgtat ttatagatgc taatgaattt caatgctttc tatctttaca
     2041 cttagatatt aagttctttg tgaaattctg taataaaatt ctacttcatt aaa
//
LOCUS       NM_001017390            1356 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens sulfotransferase family 1A member 4 (SULT1A4), mRNA.
ACCESSION   NM_001017390
VERSION     NM_001017390.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1356)
  AUTHORS   Idris M, Mitchell DJ, Gordon R, Sidharthan NP, Butcher NJ and
            Minchin RF.
  TITLE     Interaction of the Brain-Selective Sulfotransferase SULT4A1 with
            Other Cytosolic Sulfotransferases: Effects on Protein Expression and
            Function
  JOURNAL   Drug Metab Dispos 48 (5), 337-344 (2020)
   PUBMED   32152050
REFERENCE   2  (bases 1 to 1356)
  AUTHORS   Bairam AF, Rasool MI, Alherz FA, Abunnaja MS, El Daibani AA, Gohal
            SA, Alatwi ES, Kurogi K and Liu MC.
  TITLE     Impact of SULT1A3/SULT1A4 genetic polymorphisms on the sulfation of
            phenylephrine and salbutamol by human SULT1A3 allozymes
  JOURNAL   Pharmacogenet Genomics 29 (5), 99-105 (2019)
   PUBMED   31145702
  REMARK    GeneRIF: The results obtained showed clearly the differential
            enzymatic characteristics of SULT1A3 allozymes in mediating the
            sulfation of phenylephrine and salbutamol. This information may
            contribute toward a better understanding of the pharmacokinetics of
            these two drugs in individuals with distinct SULT1A3 and/or SULT1A4
            genotypes.
REFERENCE   3  (bases 1 to 1356)
  AUTHORS   Bairam AF, Rasool MI, Alherz FA, Abunnaja MS, El Daibani AA, Kurogi
            K and Liu MC.
  TITLE     Effects of human SULT1A3/SULT1A4 genetic polymorphisms on the
            sulfation of acetaminophen and opioid drugs by the cytosolic
            sulfotransferase SULT1A3
  JOURNAL   Arch Biochem Biophys 648, 44-52 (2018)
   PUBMED   29705271
  REMARK    GeneRIF: Effects of human SULT1A3/SULT1A4 genetic polymorphisms on
            the sulfation of acetaminophen and opioid drugs by the cytosolic
            sulfotransferase SULT1A3
REFERENCE   4  (bases 1 to 1356)
  AUTHORS   Sidharthan NP, Minchin RF and Butcher NJ.
  TITLE     Cytosolic sulfotransferase 1A3 is induced by dopamine and protects
            neuronal cells from dopamine toxicity: role of D1
            receptor-N-methyl-D-aspartate receptor coupling
  JOURNAL   J Biol Chem 288 (48), 34364-34374 (2013)
   PUBMED   24136195
REFERENCE   5  (bases 1 to 1356)
  AUTHORS   Kurogi K, Davidson G, Mohammed YI, Williams FE, Liu MY, Sakakibara
            Y, Suiko M and Liu MC.
  TITLE     Ethanol sulfation by the human cytosolic sulfotransferases: a
            systematic analysis
  JOURNAL   Biol Pharm Bull 35 (12), 2180-2185 (2012)
   PUBMED   23207770
REFERENCE   6  (bases 1 to 1356)
  AUTHORS   Hildebrandt MA, Salavaggione OE, Martin YN, Flynn HC, Jalal S,
            Wieben ED and Weinshilboum RM.
  TITLE     Human SULT1A3 pharmacogenetics: gene duplication and functional
            genomic studies
  JOURNAL   Biochem Biophys Res Commun 321 (4), 870-878 (2004)
   PUBMED   15358107
REFERENCE   7  (bases 1 to 1356)
  AUTHORS   Weinshilboum RM, Otterness DM, Aksoy IA, Wood TC, Her C and
            Raftogianis RB.
  TITLE     Sulfation and sulfotransferases 1: Sulfotransferase molecular
            biology: cDNAs and genes
  JOURNAL   FASEB J 11 (1), 3-14 (1997)
   PUBMED   9034160
  REMARK    Review article
REFERENCE   8  (bases 1 to 1356)
  AUTHORS   Bernier F, Leblanc G, Labrie F and Luu-The V.
  TITLE     Structure of human estrogen and aryl sulfotransferase gene. Two mRNA
            species issued from a single gene
  JOURNAL   J Biol Chem 269 (45), 28200-28205 (1994)
   PUBMED   7961757
REFERENCE   9  (bases 1 to 1356)
  AUTHORS   Wood TC, Aksoy IA, Aksoy S and Weinshilboum RM.
  TITLE     Human liver thermolabile phenol sulfotransferase: cDNA cloning,
            expression and characterization
  JOURNAL   Biochem Biophys Res Commun 198 (3), 1119-1127 (1994)
   PUBMED   8117269
REFERENCE   10  (bases 1 to 1356)
  AUTHORS   Zhu X, Veronese ME, Bernard CC, Sansom LN and McManus ME.
  TITLE     Identification of two human brain aryl sulfotransferase cDNAs
  JOURNAL   Biochem Biophys Res Commun 195 (1), 120-127 (1993)
   PUBMED   8363592
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC132920.1, SRR14038192.3645752.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000360423.12/ ENSP00000353600.8
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC133555.3.
            On Nov 26, 2019 this sequence version replaced NM_001017390.2.
            Summary: Sulfotransferase enzymes catalyze the sulfate conjugation
            of many hormones, neurotransmitters, drugs, and xenobiotic
            compounds. These cytosolic enzymes are different in their tissue
            distributions and substrate specificities. The gene structure
            (number and length of exons) is similar among family members. This
            gene encodes a phenol sulfotransferase with thermolabile enzyme
            activity. Four sulfotransferase genes are located on the p arm of
            chromosome 16, this gene and SULT1A3 arose from a segmental
            duplication. Read-through transcription exists between this gene
            and the upstream SLX1B (SLX1 structure-specific endonuclease
            subunit homolog B) gene that encodes a protein containing GIY-YIG
            domains. [provided by RefSeq, Nov 2010].
            Sequence Note: This RefSeq record was created from genomic sequence
            data to make the sequence consistent with the reference genome
            assembly. The genomic coordinates used for the transcript record
            were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1356
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..1356
                     /gene="SULT1A4"
                     /gene_synonym="HAST3; M-PST; ST1A3; ST1A3/ST1A4; ST1A4;
                     STM; TL-PST"
                     /note="sulfotransferase family 1A member 4"
                     /db_xref="GeneID:445329"
                     /db_xref="HGNC:HGNC:30004"
                     /db_xref="MIM:615819"
     CDS             78..965
                     /gene="SULT1A4"
                     /gene_synonym="HAST3; M-PST; ST1A3; ST1A3/ST1A4; ST1A4;
                     STM; TL-PST"
                     /EC_number="2.8.2.1"
                     /note="sulfokinase; aryl sulfotransferase 1A3/1A4;
                     placental estrogen sulfotransferase; thermolabile phenol
                     sulfotransferase; sulfotransferase, monoamine-preferring;
                     monoamine-sulfating phenol sulfotransferase;
                     catecholamine-sulfating phenol sulfotransferase;
                     SLX1B-SULT1A4; sulfotransferase family, cytosolic, 1A,
                     phenol-preferring, member 4; Sulfotransferase 1A3"
                     /codon_start=1
                     /product="sulfotransferase 1A4"
                     /protein_id="NP_001017390.1"
                     /db_xref="CCDS:CCDS32427.1"
                     /db_xref="GeneID:445329"
                     /db_xref="HGNC:HGNC:30004"
                     /db_xref="MIM:615819"
                     /translation="MELIQDTSRPPLEYVKGVPLIKYFAEALGPLQSFQARPDDLLINT
                     YPKSGTTWVSQILDMIYQGGDLEKCNRAPIYVRVPFLEVNDPGEPSGLETLKDTPPPRL
                     IKSHLPLALLPQTLLDQKVKVVYVARNPKDVAVSYYHFHRMEKAHPEPGTWDSFLEKFM
                     AGEVSYGSWYQHVQEWWELSRTHPVLYLFYEDMKENPKREIQKILEFVGRSLPEETMDF
                     MVQHTSFKEMKKNPMTNYTTVPQELMDHSISPFMRKGMAGDWKTTFTVAQNERFDADYA
                     EKMAGCSLSFRSEL"
     regulatory      1333..1338
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SULT1A4"
                     /gene_synonym="HAST3; M-PST; ST1A3; ST1A3/ST1A4; ST1A4;
                     STM; TL-PST"
                     /note="hexamer: AATAAA"
     polyA_site      1356
                     /gene="SULT1A4"
                     /gene_synonym="HAST3; M-PST; ST1A3; ST1A3/ST1A4; ST1A4;
                     STM; TL-PST"
                     /note="major polyA site"
ORIGIN
        1 acactcccta caccacaccc atactcagcc cctgcaggca aggagagaac aggtcaggtt
       61 cccgagagct caggaacatg gagctgatcc aggacacctc ccgcccgcca ctggagtacg
      121 tgaagggggt cccgctcatc aagtactttg cagaggcact ggggcccctg cagagcttcc
      181 aagcccgacc tgatgacctg ctcatcaaca cctaccccaa gtctggcacc acctgggtga
      241 gccagatact ggacatgatc taccagggcg gcgacctaga gaagtgtaac cgggctccca
      301 tctacgtacg ggtgcccttc cttgaggtca atgatccagg ggaaccctca gggctggaga
      361 ctctgaaaga cacaccgccc ccacggctca tcaagtcaca cctgcccctg gctctgctcc
      421 ctcagactct gttggatcag aaggtcaagg tggtctatgt tgcccgaaac ccaaaggacg
      481 tggcggtctc ctactaccat ttccaccgta tggaaaaggc gcaccctgag cctgggacct
      541 gggacagctt cctggaaaag ttcatggctg gagaagtgtc ctacgggtcc tggtaccagc
      601 acgtgcagga gtggtgggag ctgagccgca cccaccctgt tctctacctc ttctatgaag
      661 acatgaagga gaaccccaaa agggagattc aaaagatcct ggagtttgtg gggcgctccc
      721 tgccagagga gaccatggac ttcatggttc agcacacgtc gttcaaggag atgaagaaga
      781 accctatgac caactacacc accgtccccc aggagctcat ggaccacagc atctccccct
      841 tcatgaggaa aggcatggct ggggactgga agaccacctt caccgtggcg cagaatgagc
      901 gcttcgatgc ggactatgcg gagaagatgg caggctgcag cctcagcttc cgctctgagc
      961 tgtgagaggg gctcctggag tcactgcaga gggagtgtgc gaatctaccc tgaccaatgg
     1021 gctcaagaat aaagtatgat ttttgagtca ggcacagtgg ctcatgtctg caatcccagc
     1081 gatttgggag gttgagctgg taggatcaca ataggccacg aatttgagac cagcctggta
     1141 aaatagtgag acctcatctc tacaaagatg taaaaaaatt agccacatgt gctggcactt
     1201 acctgtagtc ccagctactt gggaagcaga ggctggagga tcatttcagc ccaggaggtt
     1261 gtggatacag tgagttatga catgcccatt cactacagcc tggatgacaa gcaagaccct
     1321 ccctccaaag aaaataaagc tcaaaataaa atatga
//
LOCUS       NM_001017392            6189 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens SURP and G-patch domain containing 2 (SUGP2),
            transcript variant 1, mRNA.
ACCESSION   NM_001017392
VERSION     NM_001017392.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6189)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   2  (bases 1 to 6189)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein C,
            Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   3  (bases 1 to 6189)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   4  (bases 1 to 6189)
  AUTHORS   Sampson ND and Hewitt JE.
  TITLE     SF4 and SFRS14, two related putative splicing factors on human
            chromosome 19p13.11
  JOURNAL   Gene 305 (1), 91-100 (2003)
   PUBMED   12594045
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.237642.1, BX647813.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000452918.7/ ENSP00000389380.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC335817.1, BX647813.1,
            AL832488.1, AC004447.1 and BG166266.1.
            On Nov 22, 2018 this sequence version replaced NM_001017392.4.
            Summary: This gene encodes a member of the arginine/serine-rich
            family of splicing factors. The encoded protein functions in mRNA
            processing. Alternatively spliced transcript variants have been
            described. [provided by RefSeq, Feb 2009].
            Transcript Variant: This variant (1) encodes the shorter isoform
            (1). Variants 1-4 encode the same isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6189
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..6189
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="SURP and G-patch domain containing 2"
                     /db_xref="GeneID:10147"
                     /db_xref="HGNC:HGNC:18641"
                     /db_xref="MIM:607993"
     CDS             93..3341
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="isoform 1 is encoded by transcript variant 1;
                     splicing factor, arginine/serine-rich 14; SURP and G-patch
                     domain-containing protein 2; arginine/serine-rich-splicing
                     factor 14"
                     /codon_start=1
                     /product="SURP and G-patch domain-containing protein 2
                     isoform 1"
                     /protein_id="NP_001017392.2"
                     /db_xref="CCDS:CCDS12392.1"
                     /db_xref="GeneID:10147"
                     /db_xref="HGNC:HGNC:18641"
                     /db_xref="MIM:607993"
                     /translation="MAARRITQETFDAVLQEKAKRYHMDASGEAVSETLQFKAQDLLRA
                     VPRSRAEMYDDVHSDGRYSLSGSVAHSRDAGREGLRSDVFPGPSFRSSNPSISDDSYFR
                     KECGRDLEFSHSDSRDQVIGHRKLGHFRSQDWKFALRGSWEQDFGHPVSQESSWSQEYS
                     FGPSAVLGDFGSSRLIEKECLEKESRDYDVDHPGEADSVLRGGSQVQARGRALNIVDQE
                     GSLLGKGETQGLLTAKGGVGKLVTLRNVSTKKIPTVNRITPKTQGTNQIQKNTPSPDVT
                     LGTNPGTEDIQFPIQKIPLGLDLKNLRLPRRKMSFDIIDKSDVFSRFGIEIIKWAGFHT
                     IKDDIKFSQLFQTLFELETETCAKMLASFKCSLKPEHRDFCFFTIKFLKHSALKTPRVD
                     NEFLNMLLDKGAVKTKNCFFEIIKPFDKYIMRLQDRLLKSVTPLLMACNAYELSVKMKT
                     LSNPLDLALALETTNSLCRKSLALLGQTFSLASSFRQEKILEAVGLQDIAPSPAAFPNF
                     EDSTLFGREYIDHLKAWLVSSGCPLQVKKAEPEPMREEEKMIPPTKPEIQAKAPSSLSD
                     AVPQRADHRVVGTIDQLVKRVIEGSLSPKERTLLKEDPAYWFLSDENSLEYKYYKLKLA
                     EMQRMSENLRGADQKPTSADCAVRAMLYSRAVRNLKKKLLPWQRRGLLRAQGLRGWKAR
                     RATTGTQTLLSSGTRLKHHGRQAPGLSQAKPSLPDRNDAAKDCPPDPVGPSPQDPSLEA
                     SGPSPKPAGVDISEAPQTSSPCPSADIDMKTMETAEKLARFVAQVGPEIEQFSIENSTD
                     NPDLWFLHDQNSSAFKFYRKKVFELCPSICFTSSPHNLHTGGGDTTGSQESPVDLMEGE
                     AEFEDEPPPREAELESPEVMPEEEDEDDEDGGEEAPAPGGAGKSEGSTPADGLPGEAAE
                     DDLAGAPALSQASSGTCFPRKRISSKSLKVGMIPAPKRVCLIQEPKVHEPVRIAYDRPR
                     GRPMSKKKKPKDLDFAQQKLTDKNLGFQMLQKMGWKEGHGLGSLGKGIREPVSVGTPSE
                     GEGLGADGQEHKEDTFDVFRQRMMQMYRHKRANK"
     misc_feature    111..113
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (Q8IX01.2); phosphorylation site"
     misc_feature    285..383
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IX01.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    378..380
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IX01.2); phosphorylation site"
     misc_feature    762..764
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IX01.2); phosphorylation site"
     misc_feature    915..917
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8IX01.2); phosphorylation site"
     misc_feature    921..923
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8IX01.2); phosphorylation site"
     misc_feature    1035..1037
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IX01.2); phosphorylation site"
     misc_feature    1809..1811
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IX01.2); phosphorylation site"
     misc_feature    1860..1991
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IX01.2);
                     Region: SURP motif 1"
     misc_feature    1899..1901
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IX01.2); phosphorylation site"
     misc_feature    2172..2429
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IX01.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2352..2354
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IX01.2); phosphorylation site"
     misc_feature    2361..2363
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8CH09; propagated from
                     UniProtKB/Swiss-Prot (Q8IX01.2); phosphorylation site"
     misc_feature    2451..2582
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IX01.2);
                     Region: SURP motif 2"
     misc_feature    2637..2882
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IX01.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2679..2681
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8CH09; propagated from
                     UniProtKB/Swiss-Prot (Q8IX01.2); phosphorylation site"
     misc_feature    3036..3098
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IX01.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3075..3092
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IX01.2);
                     Region: Nuclear localization signal. /evidence=ECO:0000255"
     misc_feature    3180..3275
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IX01.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      6169..6174
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="hexamer: AATAAA"
     polyA_site      6189
                     /gene="SUGP2"
                     /gene_synonym="SFRS14; SRFS14"
                     /note="major polyA site"
ORIGIN
        1 gtccccgcct cgcgcggcgg cggcggcggg tgaggagcct gaggcggcgg cgggggtggc
       61 tccgcgcgcg gtggtctcgg gggcaaaata acatggcagc cagacgaatt acacaggaga
      121 cttttgatgc tgtattacaa gaaaaagcca aacgatatca catggatgcc agtggtgagg
      181 ctgtaagcga aactcttcag tttaaagctc aagatctctt aagggcagtc ccaagatcca
      241 gagcagagat gtatgatgac gtccacagcg atggcagata ctccctcagt ggatctgtag
      301 ctcactctag agatgccgga agagaaggcc tgagaagtga cgtatttcca gggccttcct
      361 tcagatcaag caacccttcc atcagtgatg acagctactt tcgcaaagaa tgtggccggg
      421 atctggaatt ttctcactct gattctcggg accaggtcat tggccaccgg aaattggggc
      481 atttccgttc tcaggactgg aaatttgcgc tccgtggttc ttgggaacaa gactttggcc
      541 atccagtttc tcaagagtcc tcttggtcac aggagtatag ttttggtccc tctgcagttt
      601 tgggggactt tggatcttcc aggctgattg agaaagagtg tttggagaag gagagtcggg
      661 attatgacgt ggaccatcct ggggaggctg actctgtgct taggggcggc agtcaagtcc
      721 aggccagagg tcgagctcta aacatcgttg accaggaagg ttccctccta ggaaaggggg
      781 agactcaggg cctgctcaca gctaaggggg gtgttgggaa acttgtcaca ttgagaaatg
      841 tgagcacaaa aaaaataccc accgtgaatc gtattactcc caaaactcag ggcactaacc
      901 aaatccagaa aaacactcca agtcctgatg tgaccctggg gacaaaccca gggacagaag
      961 atatccagtt ccccattcag aagatccctc tggggctgga tctgaagaat cttcggctcc
     1021 ccagaagaaa gatgagcttt gacatcatag ataagtctga tgttttttca agatttggga
     1081 tagaaataat caaatgggca ggattccaca ccataaaaga tgatattaaa ttttcccaac
     1141 ttttccagac tctctttgaa cttgaaacag aaacctgtgc taaaatgctt gcctcattca
     1201 aatgttcctt aaaaccagag cacagagatt tttgcttttt tactatcaaa tttttaaagc
     1261 actctgcttt gaaaacaccc agagttgata atgagttttt aaacatgctt ttagacaaag
     1321 gtgctgtgaa gaccaaaaat tgcttttttg aaatcataaa gccttttgac aagtacataa
     1381 tgagacttca agaccggctt ctgaagagtg tcacaccttt gcttatggcc tgcaatgcct
     1441 acgagctaag tgtcaagatg aagaccctca gtaaccccct ggacttggct cttgccctag
     1501 aaaccaccaa ctctctctgc cggaagtctt tggccctttt gggacagaca ttttccttgg
     1561 cctcttcttt ccggcaggag aaaatcttag aagctgtcgg cctgcaagat atagctccct
     1621 cacctgctgc gtttccaaac ttcgaagact ccactttgtt tgggcgagag tacatagacc
     1681 acctgaaggc ctggctagtc agcagcggat gtcccctcca ggttaagaaa gccgaaccag
     1741 agccgatgcg agaggaggag aaaatgattc ctcctacgaa acctgaaatt caggccaagg
     1801 ctccaagtag tctgagtgat gctgtccccc agcgagcaga tcacagggta gtgggcacca
     1861 tcgaccagct tgtgaaacgt gtcatcgaag gcagcctgtc tcccaaagag agaactcttc
     1921 tcaaagagga ccctgcttac tggtttttgt ctgatgaaaa tagtctggag tataaatatt
     1981 acaagctgaa gttggcagaa atgcagcgga tgagcgagaa cttgcgagga gccgaccaga
     2041 agccgacctc agcagactgt gcagtgaggg ccatgctgta ctcccgggct gtccgcaacc
     2101 tcaagaagaa actccttccg tggcagcggc gggggctcct ccgtgctcaa gggctccggg
     2161 gctggaaggc gaggagagcg accaccggga cccagaccct cctatcctca ggcaccaggc
     2221 tgaaacacca cggccggcag gctccaggcc tctcacaggc aaaaccatcc ctgccagaca
     2281 gaaatgatgc tgccaaggac tgcccgccag acccagttgg accttctcct caggacccca
     2341 gcttagaagc ctcaggccca tcccccaagc cagcaggagt ggacatctct gaagcacctc
     2401 agacctcttc tccctgccca tctgctgaca ttgacatgaa gacaatggag actgcagaga
     2461 aactggctag atttgttgct caggtgggac cagagatcga acaattcagc atagaaaaca
     2521 gcaccgataa ccctgacctg tggtttctac atgaccaaaa tagttctgct ttcaaattct
     2581 atcgaaagaa agtgtttgaa ctatgtccat caatttgttt cacgtcatct ccgcacaacc
     2641 ttcacactgg tggtggtgac accacgggtt ctcaggagag ccccgtggac ctcatggaag
     2701 gggaagcaga gtttgaagac gagccccctc cgcgggaggc tgagctggag agcccagagg
     2761 tgatgcctga ggaggaggac gaggacgatg aggatggggg agaggaggcc cccgctcctg
     2821 gaggggcggg caagtctgag ggcagcaccc ctgccgacgg ccttcccggc gaggctgccg
     2881 aggacgacct ggctggagca cctgccttgt cacaggcctc ctcaggtacc tgcttccctc
     2941 ggaagaggat cagcagcaag tcattgaagg ttggcatgat tccagctccc aagagagtgt
     3001 gtctcatcca ggagccaaaa gtccatgaac cagttcgaat tgcctatgac aggcctcggg
     3061 gtcgtcccat gtccaaaaag aagaaaccca aggacttgga cttcgcccag cagaagctga
     3121 ccgataagaa cctgggcttc cagatgctgc agaagatggg ctggaaggag ggccatggcc
     3181 tgggctccct cggaaagggc atcagggagc cggtcagcgt gggaaccccc tcggaagggg
     3241 aagggttggg tgctgacggg caggagcaca aagaagacac attcgatgtg ttccgacaga
     3301 ggatgatgca gatgtacaga cacaagcggg ccaacaaata gatcaaaacc actgatgtga
     3361 aagataagcc ttgaagcagc aattgccctt aaaacatcat ccctgccctg gatcggcctg
     3421 gagccagtgc ccaagtacgg tttggtgtgt acatgaaaac aaacgtctct gcagtctctg
     3481 gggcggaggt ttcgctggct tttctttctc tcaaagaaaa aaacatgcac cattttcaat
     3541 gtgcttttgc ctctcctctc tgttcacatg cttttagcag caagtcccct ccaaatctgt
     3601 cttggttccc cttcagaagg tggcgctgcc cccgaaaggc acctcagcct gtgagtgctg
     3661 aggaaccagc tcctctggct gattttccag ttggactggc cattgctctc cagaagtgct
     3721 ctgttagcaa acgtgatgtg gaaacgatca cagatggtgt tttctcgttg ttcgccagaa
     3781 tttatacggg ggagacaaat tcccggtaat taccaagtct gcactcgggt accaaagctc
     3841 tgaagctctc tgaacagttg ccatacttga gttgatgaat gtgttattca tggtgtctca
     3901 tctcatcaat gcatcttgag agacttaatg aaattttagc aacagtatag aatagctcta
     3961 tcgggtgggg agtaatcatt aaacagatga aatcggcccc agatttacat gtctctttag
     4021 aatccacagt gtaagcaaac tacagttaca aagggatggg ggttgtaaac cctctgagac
     4081 tctgcacttt tcgcacgtat ggcatcgtca agtgctgtct tattacagcc tttgtaagga
     4141 gaggcaggct cctcctgggg tgggctctgc agctgctcta tttccaggca tgtgatcgcc
     4201 cccgctctcc agattcccca gcactctgct gcgtgtaact ccactcaatt ctccactcat
     4261 ccttccttgt gaagcaggat cgttgaagtt ttaagtatgg gcaaaaatct ggaaaactta
     4321 ggatccctct gacaccccag gattagggga cacagcagtg gctagggcat cagccacaga
     4381 actgagcggg aaatgccact tgtattggct gtaaagaaat cctggctttg ggccaggcac
     4441 agtggctcaa gcctgtaatc ccagcacttt aggaggttga ggcggatgga tcacctgagg
     4501 tcaggagttt gagaccagcc tggccaacat ggtgtaaccc cgtctctact aaaaatacaa
     4561 aaaaattagc caggcgtggt agcgggcacc tgtaatccca gctactcagg aggctgaggc
     4621 aggagaatca cttgaaccgg ggaggcagag gttgcagtga gctgagatca tgccactcca
     4681 ctccagcctg ggcgacagag caagactcca tctccaaaaa aaaaaaaaaa aaaggccggc
     4741 acggtgactc acgcctataa ttccagcact ttgggaggcc gaggcaggtg gatcacgagg
     4801 tcaagagatc gagaccatcc tggccaacat ggtgaaaccc tgtctctact aaaaatgcaa
     4861 aaaattagct gggcgtggtg gcgggcgctt gtagtcccag ctactcagga ggctgaggca
     4921 ggagaatcac ttgaacccgg gaggcggagg ttgcagtgag ccgagattgt gccaccgcac
     4981 tccagcctgg caacagagcg agactctgtc tcaaaaaaaa aaaaggaaat cctggctttc
     5041 tttaagccac agacttccta ggctgtggtc ccagctcctt gtctgcctgg tccctgtcac
     5101 cttgcagtgc caccaccccc aggggctctg cttgcttcca gtggcttctg tagctttggc
     5161 aactggcaga tctttatggc agtagaggtg ccagcatgga ggatggagtt tgggtttata
     5221 acccaaccct cgaacgaacc agcctgtggg ggcctggagt ggagctggtt ttggggagtc
     5281 acaggtgcgg ggggttcatc ttctcctttc tccttctcct ttcctgaccc ctccgacagc
     5341 ttccatgttg gccatgggtc aggtgaatgg atggagctcc aagcggggct cagcccattg
     5401 acccgagcga ggcgcacaca cctgcagcgt ggatcaagcg cactctctcc agcatcgccc
     5461 tgaccattcc atgtgctttg tcctagcatg ttcattcttg actttctcca cttcatttta
     5521 ttaaaaagtt aaatgcttta ggaatctgtg gcgtgtggcc actgaccgcc ccccacctcc
     5581 tgccgctcct ccaagtttga gctgagatgg ttctgtgagt ccttggcagg ggtcaaaggg
     5641 cacatctcct tgaacctaga aagcccccta cactctcaga ggacacctct cctgtggatt
     5701 cagcgctggg gcagtgaagg tgtcgggagc cagcagagca tggtgcgtgc tgccagctgc
     5761 cggccagccg ggatagagga gatgccactg gccctccgtg cccccagccc ctccctctta
     5821 accgaggctg tccttgctct ctgcagaggc cgctctgcag gatcctcgtg tcgcgcgtga
     5881 tgtgtggtgg cacagccgtg tcaaagtcac agtgtctttt ctgtcgttct agttccaggg
     5941 tcacccccga gaggacaaca ggcatctgga agtgctctct cgccactctg ggtgctttac
     6001 tgtctctggc ttgtttccat cactggaaat cacttagaga attgtagtgt ttttggtcct
     6061 tgataaagcc tagaagacat ttgtgatgtt acaaaatgga agttttcttt tgtttctgtt
     6121 ttttaagatc taagaagttg tgaatgttgt taatcattta gccgttgcaa taaatgtaga
     6181 ggaaatgca
//
LOCUS       NM_001017395            6303 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1),
            transcript variant 1, mRNA.
ACCESSION   NM_001017395
VERSION     NM_001017395.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6303)
  AUTHORS   Hoyer MJ, Chitwood PJ, Ebmeier CC, Striepen JF, Qi RZ, Old WM and
            Voeltz GK.
  TITLE     A Novel Class of ER Membrane Proteins Regulates ER-Associated
            Endosome Fission
  JOURNAL   Cell 175 (1), 254-265 (2018)
   PUBMED   30220460
REFERENCE   2  (bases 1 to 6303)
  AUTHORS   Zhang C, Kho YS, Wang Z, Chiang YT, Ng GK, Shaw PC, Wang Y and Qi
            RZ.
  TITLE     Transmembrane and coiled-coil domain family 1 is a novel protein of
            the endoplasmic reticulum
  JOURNAL   PLoS One 9 (1), e85206 (2014)
   PUBMED   24454821
  REMARK    GeneRIF: roles of TMCC1 in ER organization Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 6303)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human RPE/choroid for the NEIBank
            Project: over 6000 non-redundant transcripts, novel genes and splice
            variants
  JOURNAL   Mol Vis 8, 205-220 (2002)
   PUBMED   12107410
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.133359.1,
            SRR7346977.1582085.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000393238.8/ ENSP00000376930.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL449209.2, AC083799.17, AC117492.17 and AC023162.41.
            On Jun 2, 2019 this sequence version replaced NM_001017395.4.
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). Variants 1 and 5-9 all encode the same isoform (a).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6303
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     gene            1..6303
                     /gene="TMCC1"
                     /note="transmembrane and coiled-coil domain family 1"
                     /db_xref="GeneID:23023"
                     /db_xref="HGNC:HGNC:29116"
                     /db_xref="MIM:616242"
     misc_feature    608..610
                     /gene="TMCC1"
                     /note="upstream in-frame stop codon"
     CDS             653..2614
                     /gene="TMCC1"
                     /note="isoform a is encoded by transcript variant 1"
                     /codon_start=1
                     /product="transmembrane and coiled-coil domains protein 1
                     isoform a"
                     /protein_id="NP_001017395.2"
                     /db_xref="CCDS:CCDS33855.1"
                     /db_xref="GeneID:23023"
                     /db_xref="HGNC:HGNC:29116"
                     /db_xref="MIM:616242"
                     /translation="MEPSGSEQLFEDPDPGGKSQDAEARKQTESEQKLSKMTHNALENI
                     NVIGQGLKHLFQHQRRRSSVSPHDVQQIQADPEPEMDLESQNACAEIDGVPTHPTALNR
                     VLQQIRVPPKMKRGTSLHSRRGKPEAPKGSPQINRKSGQEMTAVMQSGRPRSSSTTDAP
                     TSSAMMEIACAAAAAAAACLPGEEGTAERIERLEVSSLAQTSSAVASSTDGSIHTDSVD
                     GTPDPQRTKAAIAHLQQKILKLTEQIKIAQTARDDNVAEYLKLANSADKQQAARIKQVF
                     EKKNQKSAQTILQLQKKLEHYHRKLREVEQNGIPRQPKDVFRDMHQGLKDVGAKVTGFS
                     EGVVDSVKGGFSSFSQATHSAAGAVVSKPREIASLIRNKFGSADNIPNLKDSLEEGQVD
                     DAGKALGVISNFQSSPKYGSEEDCSSATSGSVGANSTTGGIAVGASSSKTNTLDMQSSG
                     FDALLHEIQEIRETQARLEESFETLKEHYQRDYSLIMQTLQEERYRCERLEEQLNDLTE
                     LHQNEILNLKQELASMEEKIAYQSYERARDIQEALEACQTRISKMELQQQQQQVVQLEG
                     LENATARNLLGKLINILLAVMAVLLVFVSTVANCVVPLMKTRNRTFSTLFLVVFIAFLW
                     KHWDALFSYVERFFSSPR"
     misc_feature    653..757
                     /gene="TMCC1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94876.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    653..655
                     /gene="TMCC1"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O94876.3); acetylation site"
     misc_feature    824..886
                     /gene="TMCC1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94876.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    986..1147
                     /gene="TMCC1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94876.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1262..1333
                     /gene="TMCC1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94876.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1796..1798
                     /gene="TMCC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94876.3); phosphorylation site"
     misc_feature    1892..1894
                     /gene="TMCC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94876.3); phosphorylation site"
     misc_feature    1895..1963
                     /gene="TMCC1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94876.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2426..2488
                     /gene="TMCC1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94876.3);
                     transmembrane region"
     misc_feature    2525..2587
                     /gene="TMCC1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94876.3);
                     transmembrane region"
     regulatory      3516..3521
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMCC1"
                     /note="hexamer: AATAAA"
     polyA_site      3542
                     /gene="TMCC1"
                     /note="major polyA site"
     regulatory      6283..6288
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMCC1"
                     /note="hexamer: AATAAA"
     polyA_site      6303
                     /gene="TMCC1"
                     /note="major polyA site"
ORIGIN
        1 ctctcgcgcc ggttcgccct cccgcgccgg ggctgaggcg gcggcggcgg tggcggtgac
       61 tgaggcggcg gcggctgagg cggcgcgggg ggagggtcgg gagggggggg tggttgtggg
      121 ggatggaccg ggtgcggcgg ccgcagtgga aggagcaggc gcttgagctc gagcgacggc
      181 gctggcggag acgccggctg ctcctcccct ccccgccggt attaatctct ggagaagaca
      241 catccacagt tagcactttc ttcagatgct gacgctcggt gaacagttgc ctttggtcac
      301 aagatttaga agacacagtg tccatcctcc cagattggat ctctttttca tatggatctt
      361 ctgtttctat gtctttttaa aaaataactt tttgggaaac cttttggatt acaactgttc
      421 atcctcacct atgcaaagaa agggaagcta ttgctgggat tttgaggagc ttttcctaaa
      481 aggattgtac accttagaag tgcttaagga agagtgatga agataggcat gaagccttcg
      541 tctcacagct gcatgcgtag tcactgttga agcaaatgcc tacctaattt gacactcttg
      601 gtgtgtttaa aaaatttttt tgagtttgca aataagcata ttaagtctac tgatggagcc
      661 ttcgggcagt gaacagttat ttgaggaccc tgatcctgga ggcaaatccc aagatgcaga
      721 ggccagaaag cagacagaat cagaacaaaa attgtctaaa atgacccaca atgctttgga
      781 gaacattaac gtgattggcc aaggcttgaa gcatctcttc cagcaccagc gcaggaggtc
      841 atcagtgtct ccacatgatg tgcagcaaat tcaggcagat ccagaacctg aaatggatct
      901 ggaaagccag aacgcatgtg ctgagattga tggtgtcccc acccacccca cagctctgaa
      961 tcgtgtcctg cagcagattc gagtgccacc caagatgaag agagggacaa gcttgcatag
     1021 taggcggggc aagccagagg ccccaaaggg aagtccccaa atcaacagga agtctggtca
     1081 ggagatgaca gctgttatgc agtcaggccg acccaggtct tcatccacaa ctgatgcacc
     1141 taccagctct gctatgatgg aaatagcttg tgctgctgct gctgctgctg ctgcatgtct
     1201 accaggagag gagggaactg cggagcggat cgaacggttg gaagtaagca gccttgccca
     1261 aacatccagt gcagtggcct ccagtaccga tggcagcatc cacacagact ctgtggatgg
     1321 aacaccagac cctcagcgca caaaggctgc cattgctcac ctgcagcaga agatcctgaa
     1381 gctcacagaa caaatcaaga ttgcacaaac agcccgggac gacaacgttg ctgaatactt
     1441 gaagcttgcc aacagtgcag acaaacagca ggctgcccgc atcaagcaag tctttgagaa
     1501 gaagaaccag aaatctgccc aaactatcct ccagctgcaa aagaaacttg agcactacca
     1561 caggaagctc agagaggtag agcagaatgg gatcccccgg cagccaaagg atgtcttcag
     1621 ggacatgcac cagggtctga aggatgtagg agcaaaggtg actggcttca gtgaaggtgt
     1681 ggtggatagt gtcaaaggtg ggttttccag cttctcccag gccacccatt cagcagcagg
     1741 cgctgtagtc tcaaagccca gagagattgc ctcactcatt cggaacaaat ttggcagtgc
     1801 agacaacatc cccaacctga aggactcttt agaggaaggg caagtggatg atgcggggaa
     1861 ggctttggga gtgatttcaa actttcagtc tagcccaaaa tatggtagtg aagaagattg
     1921 ttctagtgcc acttcaggct cagtgggagc caacagcacc acagggggca tcgctgtagg
     1981 agcatccagc tccaaaacaa acaccctgga catgcagagc tcaggatttg atgcactact
     2041 acatgagatc caggagatcc gggaaaccca ggccagacta gaggaatcct ttgagactct
     2101 caaggaacat tatcagaggg actattcctt aataatgcag accttacagg aggagcgata
     2161 tagatgtgaa cgattggaag aacagctaaa tgacctaaca gagctccacc agaatgaaat
     2221 cttgaacttg aagcaggaac tggcaagcat ggaagaaaaa atcgcgtatc agtcctatga
     2281 acgggcccgg gacatccagg aggccctgga ggcatgccag acgcgcatct ccaagatgga
     2341 gctgcagcag cagcagcagc aggtggtgca gctagaaggg ctggagaatg ccactgcccg
     2401 gaaccttctg ggcaaactca tcaacatcct cctggctgtc atggcagtcc ttttggtctt
     2461 tgtctccact gtagccaact gtgtggtccc cctcatgaag actcgcaaca ggacgttcag
     2521 cactttattc cttgtggttt ttattgcctt tctctggaag cactgggacg ccctcttcag
     2581 ctatgtggaa cggttctttt catcccctag atgatgctgg cacagaaggc attgttccct
     2641 accctctggc gagtgcatgc agcagagagt tagacagcaa cttacctact ctgaagtttt
     2701 ctacaacaaa aaaagagttg agtgaatctg tttacattta gaataatgtt tttttcttca
     2761 agagacgcaa ttgcaatagt attttttaga ttttatccaa gaagtttttt gggcgaaaat
     2821 cttggatcat ttttatgtag catgattttc cttgggatgc aaatcttaaa acagtccttt
     2881 aatatgaacc aacaatctgg agcacaccga agggcaatct aaattgtggc ttgaaggact
     2941 gcactaaaac ccactaaaaa gatgcgaaaa cctgatgagg gcaaaccagt taaacctaac
     3001 accctgcctt gtctgggctc atcacctctc cctatcccag actaacttta ctgtgaaatc
     3061 ctaccacatt ccatgtctga atttttggat tcggggtgga ttttcgttgt ccgtggaaga
     3121 acacatggat ctctctggct ttctcaccca agttggccac ttacgctaat cctggaagta
     3181 tgatcacttt tgaacctgcc ccttaacctt gacgaggata caaaagtgaa agcatcatcc
     3241 cccaaaggat cactgcacag tcctactaca gtatttttaa gtagccctct aaatacttaa
     3301 ttttaagcaa aatcccttgg ccgcactttt aaggtttttt tatatgtgta tagttaccaa
     3361 cctaaaaata aaaaatccga acagcatact tgaagaatgt aatactcaaa ctctcagtgc
     3421 ttccttatgg tttctaatag gattttttat tattgttatt attattattg ggtttttttg
     3481 gacagggttg ggagggtctt ttatttttcc tttgaaataa agaagtgatg tttttaaatg
     3541 aagaaatgtg tggatattta agtgtgctgc tccctcttgt cttgaaacag tttgagtaag
     3601 aaagtcttgc tgtaaatgct gccctctgcc gcctttgttt tgagatgcag tttaaactcc
     3661 ctctggctgc tgctgctgct ttttggtgtc ccgacatacc tacgcccccg ttttatgggt
     3721 ttggcttagt tgaagaggaa agggttgtgc aaggagagca ggaggctgtt tccaaaaacc
     3781 agtgtagtag gatagggatt tttttttttt ttttttgccc caagaaaacg ttcacccagt
     3841 gatcttgggc tggggttgtc tttaggaaaa gttgagacta taagagtcat aaataagtcc
     3901 ttgtgtttcc ttaatttatt ttgttaacac ccctaattac aaccaaagtg atgatgtgga
     3961 gtcttctgtc ttcattttgg ccccagcatt cttaatttca aagctttatt ctgtctgcct
     4021 aagagaatca accaaaggtg attctcctaa agagcagtga aggaaatgtc aggttagcag
     4081 gacccaagtt ttgggtgtga aatgttgcca gcttcctata atgtaaacgg acttgttaac
     4141 ctaacctaat tatgctcagt ggacttctat agatggtttt gaaaaatgaa ctgagctgcc
     4201 ttcccccgtc gcataaccag ttccatcatc ctggtggaac ttgaacattt agagtttatc
     4261 tagagagctt ggttaatctt tccatattat ttgtagtatt ggtcacaaat gctgttccct
     4321 cttagcctca ttctgtgcaa ccaagtgcat ataagatgcc ctgaaaagag taacaaagta
     4381 tgctttgcct gtttccactt accaggaaat tccttcagaa ctagattagc attgccctgc
     4441 ctgtctgaaa ggacagttta cctaatggtg ccagcctcct tttgctttgg caagctggat
     4501 ttctcagagc cagcatgttg tttccataac tactttgata ttttaactca ggtactccag
     4561 tcttcacccc aacctcagct gattgtagta cacctgctag ctctgttgcc ccctcaaaac
     4621 tgcacccaga gcagggccac aagggtgctt tttttcttta aaaaaaaaaa aattagaacc
     4681 aattcatgtt catgccaaaa acaaattgtc cccaagccta tatgtattaa aatgttaact
     4741 ttgcctaaaa atattgcagt gactttttag gcaggagtgc caaaggacac tatgaacttt
     4801 ttgaactgac agtttctcct aactttctgc tttagcgtaa ttgctcagag tagagagccc
     4861 ccacaaagtt atttaaaaga tgccctagca gcaatccacc agtttttcta agctagaacc
     4921 tttgagtccc ccaaactgcc tgaagactta agttttgtgg gcactggaag tcactttgat
     4981 agatggattg aaactgttcc tatttgccct gggacggttt ctatctatca aaggaaggtt
     5041 ttcacctgta gaaagccccc tgcctccagc caaatagtcc catgctgact ttctatcttc
     5101 ctttctcaaa ctgtcttagg aaggaccttc agtgcagatc aggtgcagta atggctttct
     5161 tgtcccttaa ttattcacca gacccagaag ttgtacgcat ttaatgctgt ttgtaaccat
     5221 gcatctgttt tcattctttg ctgtaccttt tgctgcccat cctgttactt ttgagtttct
     5281 ttcattgtgg ttgttcttgg gttcttttgt cttgtcagag ctcttctata acctcgctct
     5341 aatggcttaa cagttgttct gggtggaaac gtcccctcat ttgaatgctc ctctaaaaaa
     5401 aaaagaaaag aaaactgtat tcattccctt taaaatgaaa cattcctggt ttatttgtcc
     5461 atgcctctag cctgggtgag tgaagctggc tgtgttggcc tgggtgattg ttcaggttgt
     5521 agaatgcgca ttttacattg tttatgataa ttgaagggta cttctgtctg ctccaatttc
     5581 cattccttgg tatactcagt atgtcctagt aaggaaggct ttccactcta ctggctcctt
     5641 aagaagcaaa agtaggttaa attttatact tcactgacta gggtcttctc tctcccctgt
     5701 tctgaatgga gtaaaagtct gatgccaaga caaatattgg gagcgagcct tcctcactag
     5761 ccatgtccaa ataatgagcg tattttcatg tggtcttcac tgcatttggt tttgtttctg
     5821 atttcatgtt cctttgaggt acagtcagat gaaaatgctg agttctgaga gagttccaat
     5881 gaggagctgc ctttcagctt tggaaaatat gcaactaaaa caaaaccaaa cattattgta
     5941 atctgacaca ggcaaaatta tggttcccac accccaaccc caaatgaaac ctgggatttt
     6001 gaatgtggct ctaagagtta acattgctgt ctgtatgtcg tgtatgctag gtgatatcct
     6061 cagtagggat tgactactag actgtgtgtt ttatcaaagt gtgtaagaat aaaaactcac
     6121 ttgcacgaat tgaaacgtaa agaaatgaca cttgtgaacg tgtgaacgtt aacactgtag
     6181 ttgatagatc ttaagctgct aattgttgag agagatttaa atttatgttc tgtctggtcg
     6241 ctgcagattc tcagcagcac ttttactgta tatagaaatt gaaataaaga cctcagctat
     6301 taa
//
LOCUS       NM_001017403            3649 bp    mRNA    linear   PRI 09-JUL-2023
DEFINITION  Homo sapiens leucine rich repeat containing G protein-coupled
            receptor 6 (LGR6), transcript variant 1, mRNA.
ACCESSION   NM_001017403
VERSION     NM_001017403.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3649)
  AUTHORS   Cortesi EE, Meeusen B, Vanstapel A, Verleden SE, Vanaudenaerde BM,
            Wuyts WA, Janssens W, Janssens V, Roskams T and Ventura JJ.
  TITLE     Increased LGR6 Expression Sustains Long-Term Wnt Activation and
            Acquisition of Senescence in Epithelial Progenitors in Chronic Lung
            Diseases
  JOURNAL   Cells 10 (12), 3437 (2021)
   PUBMED   34943945
  REMARK    GeneRIF: Increased LGR6 Expression Sustains Long-Term Wnt Activation
            and Acquisition of Senescence in Epithelial Progenitors in Chronic
            Lung Diseases. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3649)
  AUTHORS   Feng Q, Li S, Ma HM, Yang WT and Zheng PS.
  TITLE     LGR6 activates the Wnt/beta-catenin signaling pathway and forms a
            beta-catenin/TCF7L2/LGR6 feedback loop in LGR6high cervical cancer
            stem cells
  JOURNAL   Oncogene 40 (42), 6103-6114 (2021)
   PUBMED   34489551
  REMARK    GeneRIF: LGR6 activates the Wnt/beta-catenin signaling pathway and
            forms a beta-catenin/TCF7L2/LGR6 feedback loop in LGR6(high)
            cervical cancer stem cells.
REFERENCE   3  (bases 1 to 3649)
  AUTHORS   Li X, Wang WP, Zhou M, Xu XR and Gao JZ.
  TITLE     [Expression and Significance of Leucine-rich Repeat-containing
            G-protein Coupled Receptor 5/6 in Wnt Pathway in Children with Acute
            Lymphoblastic Leukemia]
  JOURNAL   Zhongguo Yi Xue Ke Xue Yuan Xue Bao 43 (4), 595-602 (2021)
   PUBMED   34494532
  REMARK    GeneRIF: [Expression and Significance of Leucine-rich
            Repeat-containing G-protein Coupled Receptor 5/6 in Wnt Pathway in
            Children with Acute Lymphoblastic Leukemia].
REFERENCE   4  (bases 1 to 3649)
  AUTHORS   Lee S, Jun J, Kim WJ, Tamayo P and Howell SB.
  TITLE     WNT Signaling Driven by R-spondin 1 and LGR6 in High-grade Serous
            Ovarian Cancer
  JOURNAL   Anticancer Res 40 (11), 6017-6028 (2020)
   PUBMED   33109540
  REMARK    GeneRIF: WNT Signaling Driven by R-spondin 1 and LGR6 in High-grade
            Serous Ovarian Cancer.
REFERENCE   5  (bases 1 to 3649)
  AUTHORS   Jank BJ, Kadletz L, Dunkler D, Haas M, Schnoell J, Kenner L and
            Heiduschka G.
  TITLE     Epithelial stem cell marker LGR6 expression identifies a low-risk
            subgroup in human papillomavirus positive oropharyngeal squamous
            cell carcinoma
  JOURNAL   Oral Oncol 105, 104657 (2020)
   PUBMED   32244172
  REMARK    GeneRIF: Epithelial stem cell marker LGR6 expression identifies a
            low-risk subgroup in human papillomavirus positive oropharyngeal
            squamous cell carcinoma.
REFERENCE   6  (bases 1 to 3649)
  AUTHORS   Garcia-Closas M, Couch FJ, Lindstrom S, Michailidou K, Schmidt MK,
            Brook MN, Orr N, Rhie SK, Riboli E, Feigelson HS, Le Marchand L,
            Buring JE, Eccles D, Miron P, Fasching PA, Brauch H, Chang-Claude J,
            Carpenter J, Godwin AK, Nevanlinna H, Giles GG, Cox A, Hopper JL,
            Bolla MK, Wang Q, Dennis J, Dicks E, Howat WJ, Schoof N, Bojesen SE,
            Lambrechts D, Broeks A, Andrulis IL, Guenel P, Burwinkel B, Sawyer
            EJ, Hollestelle A, Fletcher O, Winqvist R, Brenner H, Mannermaa A,
            Hamann U, Meindl A, Lindblom A, Zheng W, Devillee P, Goldberg MS,
            Lubinski J, Kristensen V, Swerdlow A, Anton-Culver H, Dork T, Muir
            K, Matsuo K, Wu AH, Radice P, Teo SH, Shu XO, Blot W, Kang D,
            Hartman M, Sangrajrang S, Shen CY, Southey MC, Park DJ, Hammet F,
            Stone J, Veer LJ, Rutgers EJ, Lophatananon A, Stewart-Brown S,
            Siriwanarangsan P, Peto J, Schrauder MG, Ekici AB, Beckmann MW, Dos
            Santos Silva I, Johnson N, Warren H, Tomlinson I, Kerin MJ, Miller
            N, Marme F, Schneeweiss A, Sohn C, Truong T, Laurent-Puig P, Kerbrat
            P, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Perez JI,
            Menendez P, Muller H, Arndt V, Stegmaier C, Lichtner P, Lochmann M,
            Justenhoven C, Ko YD, Muranen TA, Aittomaki K, Blomqvist C, Greco D,
            Heikkinen T, Ito H, Iwata H, Yatabe Y, Antonenkova NN, Margolin S,
            Kataja V, Kosma VM, Hartikainen JM, Balleine R, Tseng CC, Berg DV,
            Stram DO, Neven P, Dieudonne AS, Leunen K, Rudolph A, Nickels S,
            Flesch-Janys D, Peterlongo P, Peissel B, Bernard L, Olson JE, Wang
            X, Stevens K, Severi G, Baglietto L, McLean C, Coetzee GA, Feng Y,
            Henderson BE, Schumacher F, Bogdanova NV, Labreche F, Dumont M, Yip
            CH, Taib NA, Cheng CY, Shrubsole M, Long J, Pylkas K,
            Jukkola-Vuorinen A, Kauppila S, Knight JA, Glendon G, Mulligan AM,
            Tollenaar RA, Seynaeve CM, Kriege M, Hooning MJ, van den Ouweland
            AM, van Deurzen CH, Lu W, Gao YT, Cai H, Balasubramanian SP, Cross
            SS, Reed MW, Signorello L, Cai Q, Shah M, Miao H, Chan CW, Chia KS,
            Jakubowska A, Jaworska K, Durda K, Hsiung CN, Wu PE, Yu JC, Ashworth
            A, Jones M, Tessier DC, Gonzalez-Neira A, Pita G, Alonso MR, Vincent
            D, Bacot F, Ambrosone CB, Bandera EV, John EM, Chen GK, Hu JJ,
            Rodriguez-Gil JL, Bernstein L, Press MF, Ziegler RG, Millikan RM,
            Deming-Halverson SL, Nyante S, Ingles SA, Waisfisz Q, Tsimiklis H,
            Makalic E, Schmidt D, Bui M, Gibson L, Muller-Myhsok B, Schmutzler
            RK, Hein R, Dahmen N, Beckmann L, Aaltonen K, Czene K, Irwanto A,
            Liu J, Turnbull C, Rahman N, Meijers-Heijboer H, Uitterlinden AG,
            Rivadeneira F, Olswold C, Slager S, Pilarski R, Ademuyiwa F,
            Konstantopoulou I, Martin NG, Montgomery GW, Slamon DJ, Rauh C, Lux
            MP, Jud SM, Bruning T, Weaver J, Sharma P, Pathak H, Tapper W, Gerty
            S, Durcan L, Trichopoulos D, Tumino R, Peeters PH, Kaaks R, Campa D,
            Canzian F, Weiderpass E, Johansson M, Khaw KT, Travis R,
            Clavel-Chapelon F, Kolonel LN, Chen C, Beck A, Hankinson SE, Berg
            CD, Hoover RN, Lissowska J, Figueroa JD, Chasman DI, Gaudet MM,
            Diver WR, Willett WC, Hunter DJ, Simard J, Benitez J, Dunning AM,
            Sherman ME, Chenevix-Trench G, Chanock SJ, Hall P, Pharoah PD,
            Vachon C, Easton DF, Haiman CA and Kraft P.
  CONSRTM   Gene ENvironmental Interaction and breast CAncer (GENICA) Network;
            kConFab Investigators; Familial Breast Cancer Study (FBCS);
            Australian Breast Cancer Tissue Bank (ABCTB) Investigators
  TITLE     Genome-wide association studies identify four ER negative-specific
            breast cancer risk loci
  JOURNAL   Nat Genet 45 (4), 392-398 (2013)
   PUBMED   23535733
REFERENCE   7  (bases 1 to 3649)
  AUTHORS   Gong X, Carmon KS, Lin Q, Thomas A, Yi J and Liu Q.
  TITLE     LGR6 is a high affinity receptor of R-spondins and potentially
            functions as a tumor suppressor
  JOURNAL   PLoS One 7 (5), e37137 (2012)
   PUBMED   22615920
  REMARK    GeneRIF: Overexpression of wild-type LGR6 in HeLa cells leads to
            increased cell migration.
REFERENCE   8  (bases 1 to 3649)
  AUTHORS   de Lau W, Barker N, Low TY, Koo BK, Li VS, Teunissen H, Kujala P,
            Haegebarth A, Peters PJ, van de Wetering M, Stange DE, van Es JE,
            Guardavaccaro D, Schasfoort RB, Mohri Y, Nishimori K, Mohammed S,
            Heck AJ and Clevers H.
  TITLE     Lgr5 homologues associate with Wnt receptors and mediate R-spondin
            signalling
  JOURNAL   Nature 476 (7360), 293-297 (2011)
   PUBMED   21727895
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 3649)
  AUTHORS   Takeda S, Kadowaki S, Haga T, Takaesu H and Mitaku S.
  TITLE     Identification of G protein-coupled receptor genes from the human
            genome sequence
  JOURNAL   FEBS Lett 520 (1-3), 97-101 (2002)
   PUBMED   12044878
  REMARK    Erratum:[FEBS Lett 2002 Jul 17;523(1-3):257]
REFERENCE   10  (bases 1 to 3649)
  AUTHORS   Hsu SY, Kudo M, Chen T, Nakabayashi K, Bhalla A, van der Spek PJ,
            van Duin M and Hsueh AJ.
  TITLE     The three subfamilies of leucine-rich repeat-containing G
            protein-coupled receptors (LGR): identification of LGR6 and LGR7 and
            the signaling mechanism for LGR7
  JOURNAL   Mol Endocrinol 14 (8), 1257-1271 (2000)
   PUBMED   10935549
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB049405.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367278.8/ ENSP00000356247.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356953.17, BM699180.1,
            AB049405.1, BC047905.1 and AF088074.1.
            On Aug 11, 2020 this sequence version replaced NM_001017403.1.
            Summary: This gene encodes a member of the leucine-rich
            repeat-containing subgroup of the G protein-coupled 7-transmembrane
            protein superfamily. The encoded protein is a glycoprotein hormone
            receptor with a large N-terminal extracellular domain that contains
            leucine-rich repeats important for the formation of a
            horseshoe-shaped interaction motif for ligand binding. Alternative
            splicing of this gene results in multiple transcript variants.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3649
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..3649
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="leucine rich repeat containing G protein-coupled
                     receptor 6"
                     /db_xref="GeneID:59352"
                     /db_xref="HGNC:HGNC:19719"
                     /db_xref="MIM:606653"
     misc_feature    69..71
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="upstream in-frame stop codon"
     CDS             192..3095
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; gonadotropin receptor"
                     /codon_start=1
                     /product="leucine-rich repeat-containing G-protein coupled
                     receptor 6 isoform 1 precursor"
                     /protein_id="NP_001017403.1"
                     /db_xref="CCDS:CCDS30971.1"
                     /db_xref="GeneID:59352"
                     /db_xref="HGNC:HGNC:19719"
                     /db_xref="MIM:606653"
                     /translation="MPSPPGLRALWLCAALCASRRAGGAPQPGPGPTACPAPCHCQEDG
                     IMLSADCSELGLSAVPGDLDPLTAYLDLSMNNLTELQPGLFHHLRFLEELRLSGNHLSH
                     IPGQAFSGLYSLKILMLQNNQLGGIPAEALWELPSLQSLRLDANLISLVPERSFEGLSS
                     LRHLWLDDNALTEIPVRALNNLPALQAMTLALNRISHIPDYAFQNLTSLVVLHLHNNRI
                     QHLGTHSFEGLHNLETLDLNYNKLQEFPVAIRTLGRLQELGFHNNNIKAIPEKAFMGNP
                     LLQTIHFYDNPIQFVGRSAFQYLPKLHTLSLNGAMDIQEFPDLKGTTSLEILTLTRAGI
                     RLLPSGMCQQLPRLRVLELSHNQIEELPSLHRCQKLEEIGLQHNRIWEIGADTFSQLSS
                     LQALDLSWNAIRSIHPEAFSTLHSLVKLDLTDNQLTTLPLAGLGGLMHLKLKGNLALSQ
                     AFSKDSFPKLRILEVPYAYQCCPYGMCASFFKASGQWEAEDLHLDDEESSKRPLGLLAR
                     QAENHYDQDLDELQLEMEDSKPHPSVQCSPTPGPFKPCEYLFESWGIRLAVWAIVLLSV
                     LCNGLVLLTVFAGGPVPLPPVKFVVGAIAGANTLTGISCGLLASVDALTFGQFSEYGAR
                     WETGLGCRATGFLAVLGSEASVLLLTLAAVQCSVSVSCVRAYGKSPSLGSVRAGVLGCL
                     ALAGLAAALPLASVGEYGASPLCLPYAPPEGQPAALGFTVALVMMNSFCFLVVAGAYIK
                     LYCDLPRGDFEAVWDCAMVRHVAWLIFADGLLYCPVAFLSFASMLGLFPVTPEAVKSVL
                     LVVLPLPACLNPLLYLLFNPHFRDDLRRLRPRAGDSGPLAYAAAGELEKSSCDSTQALV
                     AFSDVDLILEASEAGRPPGLETYGFPSVTLISCQQPGAPRLEGSHCVEPEGNHFGNPQP
                     SMDGELLLRAEGSTPAGGGLSGGGGFQPSGLAFASHV"
     sig_peptide     192..263
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     264..3092
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /product="Leucine-rich repeat-containing G-protein coupled
                     receptor 6. /id=PRO_0000069699"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3)"
     misc_feature    420..422
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9HBX8.3); glycosylation site"
     misc_feature    462..527
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     Region: LRR 1"
     misc_feature    534..599
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     Region: LRR 2"
     misc_feature    606..671
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     Region: LRR 3"
     misc_feature    678..749
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     Region: LRR 4"
     misc_feature    750..815
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     Region: LRR 5"
     misc_feature    813..815
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9HBX8.3); glycosylation site"
     misc_feature    822..887
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     Region: LRR 6"
     misc_feature    894..959
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     Region: LRR 7"
     misc_feature    963..1028
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     Region: LRR 8"
     misc_feature    1035..1100
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     Region: LRR 9"
     misc_feature    1107..1175
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     Region: LRR 10"
     misc_feature    1176..1241
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     Region: LRR 11"
     misc_feature    1248..1313
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     Region: LRR 12"
     misc_feature    1314..1379
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     Region: LRR 13"
     misc_feature    1386..1451
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     Region: LRR 14"
     misc_feature    1458..1520
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     Region: LRR 15"
     misc_feature    1893..1955
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     transmembrane region"
     misc_feature    1986..2048
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     transmembrane region"
     misc_feature    2124..2186
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     transmembrane region"
     misc_feature    2253..2315
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     transmembrane region"
     misc_feature    2373..2435
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     transmembrane region"
     misc_feature    2514..2576
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     transmembrane region"
     misc_feature    2619..2681
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBX8.3);
                     transmembrane region"
     regulatory      3556..3561
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="hexamer: ATTAAA"
     polyA_site      3578
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="major polyA site"
     regulatory      3626..3631
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
                     /note="hexamer: AATAAA"
     polyA_site      3649
                     /gene="LGR6"
                     /gene_synonym="GPCR; VTS20631"
ORIGIN
        1 actcaacaat gcctgcccct ctctgactgc accgtcccgg cgctcccacc gccgccgccg
       61 ccgcccaata gagcccctgg ggcggtcccc accgacggtg cagcccgccg ggaccgggag
      121 gaagcagctg cggccatcgc gccgtgcgtc cgcgcccggc cgccaggtgc cccagtagcc
      181 cgaccgccga gatgcccagc ccgccggggc tccgggcgct atggctttgc gccgcgctgt
      241 gcgcttcccg gagggccggc ggcgcccccc agcccggccc ggggcccacc gcctgcccgg
      301 ccccctgcca ctgccaggag gacggcatca tgctgtctgc cgactgctct gagctcgggc
      361 tgtccgccgt tccgggggac ctggaccccc tgacggctta cctggacctc agcatgaaca
      421 acctcacaga gcttcagcct ggcctcttcc accacctgcg cttcttggag gagctgcgtc
      481 tctctgggaa ccatctctca cacatcccag gacaagcatt ctctggtctc tacagcctga
      541 aaatcctgat gctgcagaac aatcagctgg gaggaatccc cgcagaggcg ctgtgggagc
      601 tgccgagcct gcagtcgctg cgcctagatg ccaacctcat ctccctggtc ccggagagga
      661 gctttgaggg gctgtcctcc ctccgccacc tctggctgga cgacaatgca ctcacggaga
      721 tccctgtcag ggccctcaac aacctccctg ccctgcaggc catgaccctg gccctcaacc
      781 gcatcagcca catccccgac tacgcgttcc agaatctcac cagccttgtg gtgctgcatt
      841 tgcataacaa ccgcatccag catctgggga cccacagctt cgaggggctg cacaatctgg
      901 agacactaga cctgaattat aacaagctgc aggagttccc tgtggccatc cggaccctgg
      961 gcagactgca ggaactgggg ttccataaca acaacatcaa ggccatccca gaaaaggcct
     1021 tcatggggaa ccctctgcta cagacgatac acttttatga taacccaatc cagtttgtgg
     1081 gaagatcggc attccagtac ctgcctaaac tccacacact atctctgaat ggtgccatgg
     1141 acatccagga gtttccagat ctcaaaggca ccaccagcct ggagatcctg accctgaccc
     1201 gcgcaggcat ccggctgctc ccatcgggga tgtgccaaca gctgcccagg ctccgagtcc
     1261 tggaactgtc tcacaatcaa attgaggagc tgcccagcct gcacaggtgt cagaaattgg
     1321 aggaaatcgg cctccaacac aaccgcatct gggaaattgg agctgacacc ttcagccagc
     1381 tgagctccct gcaagccctg gatcttagct ggaacgccat ccggtccatc caccccgagg
     1441 ccttctccac cctgcactcc ctggtcaagc tggacctgac agacaaccag ctgaccacac
     1501 tgcccctggc tggacttggg ggcttgatgc atctgaagct caaagggaac cttgctctct
     1561 cccaggcctt ctccaaggac agtttcccaa aactgaggat cctggaggtg ccttatgcct
     1621 accagtgctg tccctatggg atgtgtgcca gcttcttcaa ggcctctggg cagtgggagg
     1681 ctgaagacct tcaccttgat gatgaggagt cttcaaaaag gcccctgggc ctccttgcca
     1741 gacaagcaga gaaccactat gaccaggacc tggatgagct ccagctggag atggaggact
     1801 caaagccaca ccccagtgtc cagtgtagcc ctactccagg ccccttcaag ccctgtgagt
     1861 acctctttga aagctggggc atccgcctgg ccgtgtgggc catcgtgttg ctctccgtgc
     1921 tctgcaatgg actggtgctg ctgaccgtgt tcgctggcgg gcctgtcccc ctgcccccgg
     1981 tcaagtttgt ggtaggtgcg attgcaggcg ccaacacctt gactggcatt tcctgtggcc
     2041 ttctagcctc agtcgatgcc ctgacctttg gtcagttctc tgagtacgga gcccgctggg
     2101 agacggggct aggctgccgg gccactggct tcctggcagt acttgggtcg gaggcatcgg
     2161 tgctgctgct cactctggcc gcagtgcagt gcagcgtctc cgtctcctgt gtccgggcct
     2221 atgggaagtc cccctccctg ggcagcgttc gagcaggggt cctaggctgc ctggcactgg
     2281 cagggctggc cgccgcgctg cccctggcct cagtgggaga atacggggcc tccccactct
     2341 gcctgcccta cgcgccacct gagggtcagc cagcagccct gggcttcacc gtggccctgg
     2401 tgatgatgaa ctccttctgt ttcctggtcg tggccggtgc ctacatcaaa ctgtactgtg
     2461 acctgccgcg gggcgacttt gaggccgtgt gggactgcgc catggtgagg cacgtggcct
     2521 ggctcatctt cgcagacggg ctcctctact gtcccgtggc cttcctcagc tttgcctcca
     2581 tgctgggcct cttccctgtc acgcccgagg ccgtcaagtc tgtcctgctg gtggtgctgc
     2641 ccctgcctgc ctgcctcaac ccactgctgt acctgctctt caacccccac ttccgggatg
     2701 accttcggcg gcttcggccc cgcgcagggg actcagggcc cctagcctat gctgcggccg
     2761 gggagctgga gaagagctcc tgtgattcta cccaggccct ggtagccttc tctgatgtgg
     2821 atctcattct ggaagcttct gaagctgggc ggccccctgg gctggagacc tatggcttcc
     2881 cctcagtgac cctcatctcc tgtcagcagc caggggcccc caggctggag ggcagccatt
     2941 gtgtagagcc agaggggaac cactttggga acccccaacc ctccatggat ggagaactgc
     3001 tgctgagggc agagggatct acgccagcag gtggaggctt gtcagggggt ggcggctttc
     3061 agccctctgg cttggccttt gcttcacacg tgtaaatatc cctccccatt cttctcttcc
     3121 cctctcttcc ctttcctctc tccccctcgg tgaatgatgg ctgcttctaa aacaaataca
     3181 accaaaactc agcagtgtga tctatagcag gatggcccag tccctggctc cactgatcac
     3241 ctctctcctg tgaccatcac caacgggtgc ctcttggcct ggctttccct tggccttcct
     3301 cagcttcacc ttgatactgg gcctcttcct tgtcatgtct gaagctgtgg accagagacc
     3361 tggacttttg tctgcttaag ggaaatgagg gaagtaaaga cagtgaaggg gtggagggtt
     3421 gatcagggca cagtggacag ggagacctca cagagaaagg cctggaaggt gatttcccgt
     3481 gtgactcatg gataggatac aaaatgtgtt ccatgtacca ttaatcttga catatgccat
     3541 gcataaagac ttcctattaa aataagcttt ggaagagatt acacatgatg tctttttctt
     3601 agagattcac agtgcatgtt agtgtaataa agagataagt cctacagta
//
LOCUS       NM_001017405            2182 bp    mRNA    linear   PRI 20-APR-2023
DEFINITION  Homo sapiens macrophage erythroblast attacher, E3 ubiquitin ligase
            (MAEA), transcript variant 1, mRNA.
ACCESSION   NM_001017405
VERSION     NM_001017405.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2182)
  AUTHORS   Zhou P, Peng X, Tang S, Zhang K, Tan Z, Li D, Shen L, Peng J and
            Yang L.
  TITLE     E3 ligase MAEA-mediated ubiquitination and degradation of PHD3
            promotes glioblastoma progression
  JOURNAL   Oncogene 42 (16), 1308-1320 (2023)
   PUBMED   36882523
  REMARK    GeneRIF: E3 ligase MAEA-mediated ubiquitination and degradation of
            PHD3 promotes glioblastoma progression.
REFERENCE   2  (bases 1 to 2182)
  AUTHORS   Cai X, Dong J, Lu T, Zhi L and He X.
  TITLE     Common variants in MAEA gene contributed the susceptibility to
            osteoporosis in Han Chinese postmenopausal women
  JOURNAL   J Orthop Surg Res 16 (1), 38 (2021)
   PUBMED   33423677
  REMARK    GeneRIF: Common variants in MAEA gene contributed the susceptibility
            to osteoporosis in Han Chinese postmenopausal women. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 2182)
  AUTHORS   Che Y, Sugita N, Yoshihara A, Iwasaki M, Miyazaki H, Nakamura K and
            Yoshie H.
  TITLE     A polymorphism rs6815464 in the macrophage erythroblast attacher
            gene is associated with low bone mineral density in postmenopausal
            Japanese women
  JOURNAL   Gene 700, 1-6 (2019)
   PUBMED   30890479
  REMARK    GeneRIF: The MAEA gene polymorphism rs6815464 was associated with
            low hip bone mineral density in postmenopausal Japanese women.
REFERENCE   4  (bases 1 to 2182)
  AUTHORS   Che Y, Sugita N, Yoshihara A, Iwasaki M, Miyazaki H, Nakamura K and
            Yoshie H.
  TITLE     MAEA rs6815464 polymorphism and periodontitis in postmenopausal
            Japanese females: A cross-sectional study
  JOURNAL   Arch Oral Biol 102, 128-134 (2019)
   PUBMED   31005685
  REMARK    GeneRIF: MAEA gene polymorphism was independently associated with
            severe periodontitis
REFERENCE   5  (bases 1 to 2182)
  AUTHORS   Lampert F, Stafa D, Goga A, Soste MV, Gilberto S, Olieric N, Picotti
            P, Stoffel M and Peter M.
  TITLE     The multi-subunit GID/CTLH E3 ubiquitin ligase promotes cell
            proliferation and targets the transcription factor Hbp1 for
            degradation
  JOURNAL   Elife 7, e35528 (2018)
   PUBMED   29911972
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2182)
  AUTHORS   Imamura M, Maeda S, Yamauchi T, Hara K, Yasuda K, Morizono T,
            Takahashi A, Horikoshi M, Nakamura M, Fujita H, Tsunoda T, Kubo M,
            Watada H, Maegawa H, Okada-Iwabu M, Iwabu M, Shojima N, Ohshige T,
            Omori S, Iwata M, Hirose H, Kaku K, Ito C, Tanaka Y, Tobe K,
            Kashiwagi A, Kawamori R, Kasuga M, Kamatani N, Nakamura Y and
            Kadowaki T.
  CONSRTM   Diabetes Genetics Replication and Meta-analysis (DIAGRAM) Consortium
  TITLE     A single-nucleotide polymorphism in ANK1 is associated with
            susceptibility to type 2 diabetes in Japanese populations
  JOURNAL   Hum Mol Genet 21 (13), 3042-3049 (2012)
   PUBMED   22456796
REFERENCE   7  (bases 1 to 2182)
  AUTHORS   Cho YS, Chen CH, Hu C, Long J, Ong RT, Sim X, Takeuchi F, Wu Y, Go
            MJ, Yamauchi T, Chang YC, Kwak SH, Ma RC, Yamamoto K, Adair LS, Aung
            T, Cai Q, Chang LC, Chen YT, Gao Y, Hu FB, Kim HL, Kim S, Kim YJ,
            Lee JJ, Lee NR, Li Y, Liu JJ, Lu W, Nakamura J, Nakashima E, Ng DP,
            Tay WT, Tsai FJ, Wong TY, Yokota M, Zheng W, Zhang R, Wang C, So WY,
            Ohnaka K, Ikegami H, Hara K, Cho YM, Cho NH, Chang TJ, Bao Y, Hedman
            AK, Morris AP, McCarthy MI, Takayanagi R, Park KS, Jia W, Chuang LM,
            Chan JC, Maeda S, Kadowaki T, Lee JY, Wu JY, Teo YY, Tai ES, Shu XO,
            Mohlke KL, Kato N, Han BG and Seielstad M.
  CONSRTM   DIAGRAM Consortium; MuTHER Consortium
  TITLE     Meta-analysis of genome-wide association studies identifies eight
            new loci for type 2 diabetes in east Asians
  JOURNAL   Nat Genet 44 (1), 67-72 (2011)
   PUBMED   22158537
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2182)
  AUTHORS   Kobayashi N, Yang J, Ueda A, Suzuki T, Tomaru K, Takeno M, Okuda K
            and Ishigatsubo Y.
  TITLE     RanBPM, Muskelin, p48EMLP, p44CTLH, and the armadillo-repeat
            proteins ARMC8alpha and ARMC8beta are components of the CTLH complex
  JOURNAL   Gene 396 (2), 236-247 (2007)
   PUBMED   17467196
  REMARK    GeneRIF: RanBPM, ARMC8alpha, ARMC8beta, Muskelin, p48EMLP, and
            p44CTLH form complexes in cells.
REFERENCE   9  (bases 1 to 2182)
  AUTHORS   Bala S, Kumar A, Soni S, Sinha S and Hanspal M.
  TITLE     Emp is a component of the nuclear matrix of mammalian cells and
            undergoes dynamic rearrangements during cell division
  JOURNAL   Biochem Biophys Res Commun 342 (4), 1040-1048 (2006)
   PUBMED   16510120
  REMARK    GeneRIF: These results suggest that Emp undergoes dynamic
            rearrangements within the nuclear architecture that are correlated
            with cell division.
REFERENCE   10  (bases 1 to 2182)
  AUTHORS   Hanspal M, Smockova Y and Uong Q.
  TITLE     Molecular identification and functional characterization of a novel
            protein that mediates the attachment of erythroblasts to macrophages
  JOURNAL   Blood 92 (8), 2940-2950 (1998)
   PUBMED   9763581
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC001225.1, SRR3476690.826451.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000303400.9/ ENSP00000302830.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC001225.1, AK001088.1,
            AK091951.1 and BU607457.1.
            On Nov 23, 2018 this sequence version replaced NM_001017405.2.
            Summary: This gene encodes a protein that mediates the attachment
            of erythroblasts to macrophages. This attachment promotes terminal
            maturation and enucleation of erythroblasts, presumably by
            suppressing apoptosis. The encoded protein is an integral membrane
            protein with the N-terminus on the extracellular side and the
            C-terminus on the cytoplasmic side of the cell. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jul 2014].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2182
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..2182
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /note="macrophage erythroblast attacher, E3 ubiquitin
                     ligase"
                     /db_xref="GeneID:10296"
                     /db_xref="HGNC:HGNC:13731"
                     /db_xref="MIM:606801"
     misc_feature    3..5
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /note="upstream in-frame stop codon"
     CDS             24..1214
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 1;
                     erythroblast macrophage protein; GID complex subunit 9,
                     FYV10 homolog; lung cancer-related protein 10; human lung
                     cancer oncogene 10 protein; cell proliferation-inducing
                     gene 5 protein; E3 ubiquitin-protein transferase MAEA"
                     /codon_start=1
                     /product="E3 ubiquitin-protein transferase MAEA isoform 1"
                     /protein_id="NP_001017405.1"
                     /db_xref="CCDS:CCDS33936.1"
                     /db_xref="GeneID:10296"
                     /db_xref="HGNC:HGNC:13731"
                     /db_xref="MIM:606801"
                     /translation="MAVQESAAQLSMTLKVQEYPTLKVPYETLNKRFRAAQKNIDRETS
                     HVTMVVAELEKTLSGCPAVDSVVSLLDGVVEKLSVLKRKAVESIQAEDESAKLCKRRIE
                     HLKEHSSDQPAAASVWKRKRMDRMMVEHLLRCGYYNTAVKLARQSGIEDLVNIEMFLTA
                     KEVEESLERRETATCLAWCHDNKSRLRKMKSCLEFSLRIQEFIELIRQNKRLDAVRHAR
                     KHFSQAEGSQLDEVRQAMGMLAFPPDTHISPYKDLLDPARWRMLIQQFRYDNYRLHQLG
                     NNSVFTLTLQAGLSAIKTPQCYKEDGSSKSPDCPVCSRSLNKLAQPLPMAHCANSRLVC
                     KISGDVMNENNPPMMLPNGYVYGYNSLLSIRQDDKVVCPRTKEVFHFSQAEKVYIM"
     misc_feature    24..395
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7L5Y9.1);
                     Region: Extracellular and involved in cell to cell contact.
                     /evidence=ECO:0000269|PubMed:9763581"
     misc_feature    105..107
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7L5Y9.1); phosphorylation site"
     misc_feature    963..965
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /note="Essential for ubiquitin ligase activity.
                     /evidence=ECO:0000250|UniProtKB:P40492; propagated from
                     UniProtKB/Swiss-Prot (Q7L5Y9.1); other site"
     regulatory      2133..2138
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /note="hexamer: AATAAA"
     polyA_site      2182
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /note="major polyA site"
ORIGIN
        1 gctaatgttt tggccgcttc aagatggcgg tgcaggagtc ggcggctcag ttgtccatga
       61 ccctgaaggt ccaggagtac ccgaccctca aggtgcccta cgagacgctg aacaaacgct
      121 ttcgcgccgc tcagaagaac attgaccggg agaccagcca cgtcaccatg gtggtggccg
      181 agctggagaa gacgttgagc ggctgccccg ccgtggactc cgtggtcagc ctgctggacg
      241 gcgtggtgga gaagctcagc gtcctcaaga ggaaggcggt ggaatccatc caggccgagg
      301 acgagagcgc caagctgtgc aagcgccgga tcgagcacct caaagagcat agcagcgacc
      361 agcccgcggc ggccagcgtg tggaagagga agcgcatgga tcgcatgatg gtggagcacc
      421 tgctgcgttg cggctactac aacacggctg tcaagctggc gcgccagagc ggcatcgagg
      481 acctagtgaa tattgagatg ttcctgacgg ccaaagaggt ggaggagtcc ctggagaggc
      541 gtgagacggc cacctgcctg gcctggtgcc atgacaacaa gtcccggctc cggaagatga
      601 agagctgcct ggagttcagc ctcagaatcc aggagttcat tgaactcatc cggcagaata
      661 agagactgga cgctgtgaga catgcaagaa agcacttcag ccaagcagaa gggagccagc
      721 tggacgaggt gcgccaggcc atgggcatgc tggccttccc gcccgacacg cacatctccc
      781 cgtacaagga ccttctggac cctgcacggt ggcggatgct gatccagcag ttccggtacg
      841 acaactaccg actacaccag ctgggaaaca attctgtgtt caccctcacc ctgcaggctg
      901 gcctctcagc catcaagaca ccacagtgct acaaggagga cggcagctcc aagagccctg
      961 actgccctgt gtgcagccgc tccctgaaca agctggcgca gcccctgccc atggcccact
     1021 gtgccaactc ccgcctggtc tgcaagattt ctggcgacgt gatgaacgag aacaatccgc
     1081 ccatgatgct gcccaacggc tacgtctacg gctacaattc tctgctttct atccgtcaag
     1141 atgataaagt cgtgtgcccg agaaccaaag aagtcttcca cttctcacaa gccgagaagg
     1201 tgtacatcat gtaggcccca cgtcgtgaag cgcacgcctc ggggacgggc tgcagtgggc
     1261 ggggaggcca cgccttcctc ctgtcccacg ctccagcctg ccgcggcgtt tctgtttctt
     1321 gcgaccaaag atccgtgagc aacgataaat actcttagga agagagaaaa taaggtttca
     1381 taagtttgta cttgaaaaca tttggattgg taggattttg taacacgtca accatttgat
     1441 gcttctgaaa agtactttca acttgcgaag gaaactcttc tttaaagact gacctaaaca
     1501 ccgagggaaa cttaagaacg tttaaaatat aggagtccgt gatttccctg tgttttcagt
     1561 ttctttcctt ctgtgaacga tgagacttgg agaacgggct ggtccttcac cacttcctgt
     1621 tggccctggc ctggccgggg aaggtggcag cggcaccgga ctgacctgca gtgacccgcg
     1681 atgccgcgcc acgagggaca cttatggctt cattcgagag ctgctgccaa aacgcctggc
     1741 gccgccaccg tcgggggctg gcttcgagga cgcccgcctg cctcgcgggt cgtgtccgcg
     1801 ggactgtgtt cgtacgtgca tagtttcgat atcacatcgc ggggctgtgt tcgtagctgc
     1861 gtcgtttcga tatcacaccc tctgtgtgcc gccttacttc ctgcttcgag aatgtataac
     1921 gtggaaatcc acgggaccaa atttctgcag aggccttgcc ggatggttcc ataactgtag
     1981 agtctaattg ctatccatta cagaaattaa tcgttcagtt gaaagaagta ctgatgactt
     2041 ttcaaaacaa atgaaccacc gtagctgaca gagaaccgta tcgtagaggt ttgtagttag
     2101 tgcttatttt tgcatgttga tgttgactag ctaataaact gtaaatgtaa accatgcgaa
     2161 taaaatggtt ttctatttct ca
//
LOCUS       NM_001017417             823 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens cancer/testis antigen family 45 member A1 (CT45A1),
            mRNA.
ACCESSION   NM_001017417
VERSION     NM_001017417.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 823)
  AUTHORS   Niu T, Wu Z and Xiao W.
  TITLE     Uev1A promotes breast cancer cell migration by up-regulating CT45A
            expression via the AKT pathway
  JOURNAL   BMC Cancer 21 (1), 1012 (2021)
   PUBMED   34503444
  REMARK    GeneRIF: Uev1A promotes breast cancer cell migration by
            up-regulating CT45A expression via the AKT pathway. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 823)
  AUTHORS   Wen M, Ren H, Zhang S, Li T, Zhang J and Ren P.
  TITLE     CT45A1 promotes the metastasis of osteosarcoma cells in vitro and in
            vivo through beta-catenin
  JOURNAL   Cell Death Dis 12 (7), 650 (2021)
   PUBMED   34172717
  REMARK    GeneRIF: CT45A1 promotes the metastasis of osteosarcoma cells in
            vitro and in vivo through beta-catenin. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 823)
  AUTHORS   Suzuki I, Yoshida S, Tabu K, Kusunoki S, Matsumura Y, Izumi H,
            Asanoma K, Yagi H, Onoyama I, Sonoda K, Kohno K, Taga T, Itakura A,
            Takeda S and Kato K.
  TITLE     YBX2 and cancer testis antigen 45 contribute to stemness,
            chemoresistance and a high degree of malignancy in human endometrial
            cancer
  JOURNAL   Sci Rep 11 (1), 4220 (2021)
   PUBMED   33602962
  REMARK    GeneRIF: YBX2 and cancer testis antigen 45 contribute to stemness,
            chemoresistance and a high degree of malignancy in human endometrial
            cancer. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 823)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 823)
  AUTHORS   Tang F, Tang S, Guo X, Yang C and Jia K.
  TITLE     CT45A1 siRNA silencing suppresses the proliferation, metastasis and
            invasion of lung cancer cells by downregulating the ERK/CREB
            signaling pathway
  JOURNAL   Mol Med Rep 16 (5), 6708-6714 (2017)
   PUBMED   28901509
  REMARK    GeneRIF: Following CT45A1 silencing, the expressions of Bcl2,
            survivin, MMP2, MMP9, pERK1/2 and pCREB were downregulated and the
            expression of Bax was upregulated.
REFERENCE   6  (bases 1 to 823)
  AUTHORS   Zhang W, Barger CJ, Link PA, Mhawech-Fauceglia P, Miller A, Akers
            SN, Odunsi K and Karpf AR.
  TITLE     DNA hypomethylation-mediated activation of Cancer/Testis Antigen 45
            (CT45) genes is associated with disease progression and reduced
            survival in epithelial ovarian cancer
  JOURNAL   Epigenetics 10 (8), 736-748 (2015)
   PUBMED   26098711
  REMARK    GeneRIF: These data verify CT45 expression and promoter
            hypomethylation as possible prognostic biomarkers, and suggest CT45
            as an immunological or therapeutic target in Epithelial ovarian
            cancer
REFERENCE   7  (bases 1 to 823)
  AUTHORS   Shang B, Gao A, Pan Y, Zhang G, Tu J, Zhou Y, Yang P, Cao Z, Wei Q,
            Ding Y, Zhang J, Zhao Y and Zhou Q.
  TITLE     CT45A1 acts as a new proto-oncogene to trigger tumorigenesis and
            cancer metastasis
  JOURNAL   Cell Death Dis 5 (6), e1285 (2014)
   PUBMED   24901056
  REMARK    GeneRIF: CT45A1 functions as a novel proto-oncogene to trigger
            oncogenesis and metastasis. Publication Status: Online-Only
REFERENCE   8  (bases 1 to 823)
  AUTHORS   Chen YT, Chadburn A, Lee P, Hsu M, Ritter E, Chiu A, Gnjatic S,
            Pfreundschuh M, Knowles DM and Old LJ.
  TITLE     Expression of cancer testis antigen CT45 in classical Hodgkin
            lymphoma and other B-cell lymphomas
  JOURNAL   Proc Natl Acad Sci U S A 107 (7), 3093-3098 (2010)
   PUBMED   20133697
  REMARK    GeneRIF: Hodgkin lymphoma has the highest CT45 expression among all
            malignancies tested, in diffuse large B-cell lymphomas it is similar
            to that seen in epithelial cancers, and not present in low-grade
            non-Hodgkin B-cell lymphomas.
REFERENCE   9  (bases 1 to 823)
  AUTHORS   Chen YT, Hsu M, Lee P, Shin SJ, Mhawech-Fauceglia P, Odunsi K,
            Altorki NK, Song CJ, Jin BQ, Simpson AJ and Old LJ.
  TITLE     Cancer/testis antigen CT45: analysis of mRNA and protein expression
            in human cancer
  JOURNAL   Int J Cancer 124 (12), 2893-2898 (2009)
   PUBMED   19296537
  REMARK    GeneRIF: Over-expression of CT45 is associated with cancer.
REFERENCE   10  (bases 1 to 823)
  AUTHORS   Chen YT, Scanlan MJ, Venditti CA, Chua R, Theiler G, Stevenson BJ,
            Iseli C, Gure AO, Vasicek T, Strausberg RL, Jongeneel CV, Old LJ and
            Simpson AJ.
  TITLE     Identification of cancer/testis-antigen genes by massively parallel
            signature sequencing
  JOURNAL   Proc Natl Acad Sci U S A 102 (22), 7940-7945 (2005)
   PUBMED   15905330
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY743709.1, BC140913.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000594565.6/ ENSP00000472303.1
            RefSeq Select criteria      :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC240442.3.
            On Sep 16, 2020 this sequence version replaced NM_001017417.2.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..823
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     gene            1..823
                     /gene="CT45A1"
                     /gene_synonym="CT45; CT45-1; CT45.1"
                     /note="cancer/testis antigen family 45 member A1"
                     /db_xref="GeneID:541466"
                     /db_xref="HGNC:HGNC:33267"
                     /db_xref="MIM:300648"
     CDS             59..628
                     /gene="CT45A1"
                     /gene_synonym="CT45; CT45-1; CT45.1"
                     /note="cancer/testis antigen CT45-1; cancer/testis antigen
                     45-1; cancer/testis antigen 45A1"
                     /codon_start=1
                     /product="cancer/testis antigen family 45 member A1"
                     /protein_id="NP_001017417.1"
                     /db_xref="CCDS:CCDS48174.1"
                     /db_xref="GeneID:541466"
                     /db_xref="HGNC:HGNC:33267"
                     /db_xref="MIM:300648"
                     /translation="MTDKTEKVAVDPETVFKRPRECDSPSYQKRQRMALLARKQGAGDS
                     LIAGSAMSKAKKLMTGHAIPPSQLDSQIDDFTGFSKDRMMQKPGSNAPVGGNVTSSFSG
                     DDLECRETASSPKSQREINADIKRKLVKELRCVGQKYEKIFEMLEGVQGPTAVRKRFFE
                     SIIKEAARCMRRDFVKHLKKKLKRMI"
     misc_feature    59..139
                     /gene="CT45A1"
                     /gene_synonym="CT45; CT45-1; CT45.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYN5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    305..412
                     /gene="CT45A1"
                     /gene_synonym="CT45; CT45-1; CT45.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYN5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      799..804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CT45A1"
                     /gene_synonym="CT45; CT45-1; CT45.1"
                     /note="hexamer: AGTAAA"
     polyA_site      823
                     /gene="CT45A1"
                     /gene_synonym="CT45; CT45-1; CT45.1"
                     /note="major polyA site"
ORIGIN
        1 gccacaactt cactgccatt ttgtgaggtg ctgctgtctc tcctccagca aggaaacaat
       61 gaccgataaa acagagaagg tggctgtaga tcctgaaact gtgtttaaac gtcccaggga
      121 atgtgacagt ccttcgtatc agaaaaggca gaggatggcc ctgttggcaa ggaaacaagg
      181 agcaggagac agccttattg caggctctgc catgtccaaa gcaaagaagc ttatgacagg
      241 acatgctatt ccacccagcc aattggattc tcagattgat gacttcactg gtttcagcaa
      301 agataggatg atgcagaaac ctggtagcaa tgcacctgtg ggaggaaacg ttaccagcag
      361 tttctctgga gatgacctag aatgcagaga aacagcctcc tctcccaaaa gccaacgaga
      421 aattaatgct gatataaaac gtaaattagt gaaggaactc cgatgcgttg gacaaaaata
      481 tgaaaaaatc ttcgaaatgc ttgaaggagt gcaaggacct actgcagtca ggaagcgatt
      541 ttttgaatcc atcatcaagg aagcagcaag atgtatgaga cgagactttg ttaagcacct
      601 taagaagaaa ctgaaacgta tgatttgaga atacttgtcc ctggaggatt atcacacccc
      661 aaatgcataa tctcgttaat gattgaggag agaaaaggat cagattgctg ttttctacaa
      721 tggagcagga tattgctgaa gtctcctggc atatgttacc gaatcaaata gccttccaga
      781 ggctaagaaa tttctgttag taaaagatgt tctttttccc aaa
//
LOCUS       NM_001017420            3754 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens establishment of sister chromatid cohesion
            N-acetyltransferase 2 (ESCO2), mRNA.
ACCESSION   NM_001017420
VERSION     NM_001017420.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3754)
  AUTHORS   Guo F, Luo Y, Ye G and Tang W.
  TITLE     Circular RNA METTL15/miR-374a-5p/ESCO2 axis induces colorectal
            cancer development
  JOURNAL   Acta Biochim Pol 70 (3), 541-549 (2023)
   PUBMED   37715994
  REMARK    GeneRIF: Circular RNA METTL15/miR-374a-5p/ESCO2 axis induces
            colorectal cancer development.
REFERENCE   2  (bases 1 to 3754)
  AUTHORS   Zhang J, Li L, Miao Y, Liu X, Sun H, Jiang M, Li X, Li Z, Liu C, Liu
            B, Xu X, Cao Q, Hou W, Chen C and Lou H.
  TITLE     Symmetric control of sister chromatid cohesion establishment
  JOURNAL   Nucleic Acids Res 51 (10), 4760-4773 (2023)
   PUBMED   36912084
  REMARK    GeneRIF: Symmetric control of sister chromatid cohesion
            establishment.
REFERENCE   3  (bases 1 to 3754)
  AUTHORS   Ghasemi A, Farazmand A, Hassanzadeh V, Poursani S, Soltani S,
            Akhtari M, Akhlaghi M, Farhadi E, Jamshidi A and Mahmoudi M.
  TITLE     Upregulation of KAT2B and ESCO2 gene expression level in patients
            with rheumatoid arthritis
  JOURNAL   Clin Rheumatol 42 (1), 253-259 (2023)
   PUBMED   36104638
  REMARK    GeneRIF: Upregulation of KAT2B and ESCO2 gene expression level in
            patients with rheumatoid arthritis.
REFERENCE   4  (bases 1 to 3754)
  AUTHORS   Zhang G, Liu SL, Yi WT, Dong YP and Wan YX.
  TITLE     Long noncoding RNA ZFPM2-AS1 regulates renal cell carcinoma
            progression via miR-130a-3p/ESCO2
  JOURNAL   Kaohsiung J Med Sci 38 (6), 530-541 (2022)
   PUBMED   35258173
  REMARK    GeneRIF: Long noncoding RNA ZFPM2-AS1 regulates renal cell carcinoma
            progression via miR-130a-3p/ESCO2.
REFERENCE   5  (bases 1 to 3754)
  AUTHORS   Liu Z, Cheng X, Pang B, Wang S, Liu B, Cao C, Qian R, Liang W, Zhu
            Y, Li P and Gao Y.
  TITLE     Effects of ESCO2 or its methylation on the prognosis, clinical
            characteristics, immune microenvironment, and pathogenesis of
            low-grade glioma
  JOURNAL   Int Immunopharmacol 104, 108399 (2022)
   PUBMED   35008004
  REMARK    GeneRIF: Effects of ESCO2 or its methylation on the prognosis,
            clinical characteristics, immune microenvironment, and pathogenesis
            of low-grade glioma.
REFERENCE   6  (bases 1 to 3754)
  AUTHORS   Hou F and Zou H.
  TITLE     Two human orthologues of Eco1/Ctf7 acetyltransferases are both
            required for proper sister-chromatid cohesion
  JOURNAL   Mol Biol Cell 16 (8), 3908-3918 (2005)
   PUBMED   15958495
  REMARK    GeneRIF: EFO1 and EFO2 are targeted to different chromosome
            structures to help establish or maintain sister-chromatid cohesion
REFERENCE   7  (bases 1 to 3754)
  AUTHORS   Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van
            Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K and Joenje H.
  TITLE     Roberts syndrome is caused by mutations in ESCO2, a human homolog of
            yeast ECO1 that is essential for the establishment of sister
            chromatid cohesion
  JOURNAL   Nat Genet 37 (5), 468-470 (2005)
   PUBMED   15821733
  REMARK    GeneRIF: required for the establishment of sister chromatid cohesion
            during S phase
REFERENCE   8  (bases 1 to 3754)
  AUTHORS   Fallone CA.
  TITLE     Epidemiology of the antibiotic resistance of Helicobacter pylori in
            Canada
  JOURNAL   Can J Gastroenterol 14 (10), 879-882 (2000)
   PUBMED   11111111
  REMARK    Review article
REFERENCE   9  (bases 1 to 3754)
  AUTHORS   Vega,H., Gordillo,M. and Jabs,E.W.
  TITLE     ESCO2 Spectrum Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301332
REFERENCE   10  (bases 1 to 3754)
  AUTHORS   Tomkins,D., Hunter,A. and Roberts,M.
  TITLE     Cytogenetic findings in Roberts-SC phocomelia syndrome(s)
  JOURNAL   Am J Med Genet 4 (1), 17-26 (1979)
   PUBMED   495649
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AL832666.1, SRR1803612.162167.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000305188.13/ ENSP00000306999.8
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY882862.1, AF306679.1 and
            AC104997.4.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001017420.2.
            Summary: This gene encodes a protein that may have
            acetyltransferase activity and may be required for the
            establishment of sister chromatid cohesion during the S phase of
            mitosis. Mutations in this gene have been associated with Roberts
            syndrome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3754
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.1"
     gene            1..3754
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS; RBS"
                     /note="establishment of sister chromatid cohesion
                     N-acetyltransferase 2"
                     /db_xref="GeneID:157570"
                     /db_xref="HGNC:HGNC:27230"
                     /db_xref="MIM:609353"
     CDS             71..1876
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS; RBS"
                     /EC_number="2.3.1.-"
                     /note="ECO1 homolog 2; establishment factor-like protein 2"
                     /codon_start=1
                     /product="N-acetyltransferase ESCO2"
                     /protein_id="NP_001017420.1"
                     /db_xref="CCDS:CCDS34872.1"
                     /db_xref="GeneID:157570"
                     /db_xref="HGNC:HGNC:27230"
                     /db_xref="MIM:609353"
                     /translation="MAALTPRKRKQDSLKCDSLLHFTENLFPSPNKKHCFYQNSDKNEE
                     NLHCSQQEHFVLSALKTTEINRLPSANQGSPFKSALSTVSFYNQNKWYLNPLERKLIKE
                     SRSTCLKTNDEDKSFPIVTEKMQGKPVCSKKNNKKPQKSLTAKYQPKYRHIKPVSRNSR
                     NSKQNRVIYKPIVEKENNCHSAENNSNAPRVLSQKIKPQVTLQGGAAFFVRKKSSLRKS
                     SLENEPSLGRTQKSKSEVIEDSDVETVSEKKTFATRQVPKCLVLEEKLKIGLLSASSKN
                     KEKLIKDSSDDRVSSKEHKVDKNEAFSSEDSLGENKTISPKSTVYPIFSASSVNSKRSL
                     GEEQFSVGSVNFMKQTNIQKNTNTRDTSKKTKDQLIIDAGQKHFGATVCKSCGMIYTAS
                     NPEDEMQHVQHHHRFLEGIKYVGWKKERVVAEFWDGKIVLVLPHDPSFAIKKVEDVQEL
                     VDNELGFQQVVPKCPNKIKTFLFISDEKRVVGCLIAEPIKQAFRVLSEPIGPESPSSTE
                     CPRAWQCSDVPEPAVCGISRIWVFRLKRRKRIARRLVDTLRNCFMFGCFLSTDEIAFSD
                     PTPDGKLFATKYCNTPNFLVYNFNS"
     misc_feature    155..157
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS; RBS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q56NI9.1); phosphorylation site"
     misc_feature    293..295
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS; RBS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q56NI9.1);
                     phosphorylation site"
     misc_feature    734..799
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS; RBS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q56NI9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    737..739
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS; RBS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q56NI9.1); phosphorylation site"
     misc_feature    800..802
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS; RBS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q56NI9.1);
                     phosphorylation site"
     misc_feature    914..1015
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS; RBS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q56NI9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1004..1006
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS; RBS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q56NI9.1); phosphorylation site"
     misc_feature    1604..1606
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS; RBS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q56NI9.1); phosphorylation site"
     regulatory      3318..3323
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS; RBS"
                     /note="hexamer: ATTAAA"
     polyA_site      3346
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS; RBS"
                     /note="major polyA site"
ORIGIN
        1 gctcacggag cggctggcta ggctgaggag agctcgccgg gctctgaggc gcaggaattc
       61 aataaagaaa atggcagctc ttactccaag gaagaggaag caggattctt tgaagtgtga
      121 cagcctttta cacttcactg aaaatctgtt tccatcacct aataaaaagc actgttttta
      181 tcaaaacagt gataaaaatg aagaaaacct gcattgctct caacaagagc attttgtttt
      241 aagtgcgctc aaaacaactg aaataaatag actgccatca gcaaatcaag gctcaccatt
      301 taaatctgcg ctctccactg tatcttttta caaccaaaat aagtggtacc tcaatccact
      361 ggagagaaag ctgataaaag agagtagatc tacttgtcta aaaactaatg atgaagataa
      421 atcttttccc attgtgacag aaaaaatgca aggaaaacca gtctgctcca agaagaacaa
      481 caaaaaacca cagaagagtt taactgctaa gtatcaacca aagtatagac acatcaagcc
      541 tgtatcaagg aattctagaa attccaagca aaatcgagtg atctataagc caattgtgga
      601 gaaggaaaat aattgtcatt cagctgaaaa taattccaat gctcctcggg ttctgagcca
      661 aaaaataaaa ccacaagtta cactccaggg tggagcagca ttttttgtta gaaaaaaatc
      721 ttctcttaga aaatcgtccc tggaaaatga gccgtcactg ggacgcaccc aaaagagtaa
      781 atcagaagtc attgaagatt ctgatgtaga gactgtcagt gaaaaaaaaa cttttgcgac
      841 aaggcaagtg ccaaagtgct tggtcctaga agagaaattg aaaattggac tactgagtgc
      901 aagcagtaaa aataaagaga aattaataaa ggattcatca gatgacagag tttcttcaaa
      961 ggaacataaa gttgataaaa atgaggcttt ttcttcagag gattctcttg gtgagaataa
     1021 gacaatttct cctaagtcca ctgtctatcc aatcttcagt gcatcttcag tcaattcaaa
     1081 aagatcttta ggtgaagaac agttttctgt gggatctgtc aacttcatga aacagaccaa
     1141 tatccagaaa aatactaata ccagagatac aagtaaaaaa acaaaagacc agctcatcat
     1201 cgacgctggt cagaaacatt ttggggctac tgtgtgcaag tcttgtggta tgatatatac
     1261 tgcttccaac cctgaagatg aaatgcagca tgtacagcat caccacaggt ttctggaagg
     1321 aatcaaatat gtgggttgga agaaagaacg tgtagtagca gagttttggg atgggaaaat
     1381 cgtgttggtt ctgccacatg atccaagctt tgctatcaaa aaggtagaag atgtccaaga
     1441 acttgttgat aatgaattgg gcttccagca agttgttcct aaatgtccaa acaaaataaa
     1501 aacttttctt tttatatctg atgaaaagag agtagttggg tgtttaattg cagaacccat
     1561 caaacaggca tttcgtgtcc tgtctgaacc aattggtcca gaatccccaa gctctacgga
     1621 atgtcctagg gcttggcaat gttcagatgt accagaacct gcagtctgtg ggataagtag
     1681 aatctgggtt ttcagactga agagaagaaa gcgcattgca agacgactgg ttgataccct
     1741 caggaattgc ttcatgtttg gctgttttct cagcactgat gaaatagcat tttctgaccc
     1801 aacaccagat ggcaagttat ttgcaaccaa gtactgcaac acccctaatt tcctcgtata
     1861 taattttaat agttaaagct gatttcagtt ataaaggagt tactatctgg ataagttcaa
     1921 agagctcctt attataaaat acaaactatt taatatcaaa ataaaaaata ccgagactca
     1981 cactcataca cacacacaca cacacgcaca cacacatatc acagttttgt tccttatgag
     2041 ttgaaaagtc aggaataaat ttgttgaaaa ttatctgggg attcaaagga aaaatctttg
     2101 ggtgattccc tgattagcac tctgaatgtt taattatgaa actttgtagc tataactgga
     2161 aaattacctg actctttgta agagtattaa atacaaagtg atttttctct agaaatgtga
     2221 cctggtcttt tataaagccc actcttagac caggattatc taatgccaca tcagaagcaa
     2281 acaggcaaat ttaaacttgg gcaagtaatt tctgtgccca atttgtaaag ggaattcctg
     2341 aatttttttt tttttttaat agaggcatgg gtctcactgt gttgcccagg ctggtctgaa
     2401 acttttgggc tcaagcgatc ctcccaaaac gctgggatta cagtcatgag ccaccgtgcc
     2461 cagcctaatt cctgacttct ctatacagag tcttcacttg ataggcactc gtctgtagta
     2521 actcagtttg aatatcttta gaaaatgttt agaatttatt tgtaacaaga tggtaaggaa
     2581 taagattatc ccatatgcat ttctgtagag cagaatttga tagcttagtg ttcaatcttt
     2641 ttgaaaataa atgtttacct gtcatcagat ttaattaaaa ttatacttag taattgcact
     2701 attacttagt taatttttgt tgtatggaaa tattggtagt actactttgg gaacctgtta
     2761 ctgacaattg atgtcattaa caaaatgcct agttggatta gatgttttca ttttctaatt
     2821 ttttgcttgt ttaaaatgca ccttacttgt tctgagatac ctggcaaaag tctttacaaa
     2881 atgtatggta atagaaccaa ggttagtaaa tatacatagg ctggtggatg agagaccatg
     2941 gaactgtgta aatacactta aatgttcaca catttttcta gtgtaattct tggatacttt
     3001 aaaaagcaaa acattgttca aattgttttg attctgaaaa atcattcaac tgctaactgg
     3061 caataagact ctaggcaagt cgttttccag attgtaatta tatgtagaaa ctattcatct
     3121 gcattcattt tatttgcctg taagttaaca tgtttccaaa atttaaaagc ctgggtcccc
     3181 aaaagaatgt ggaagtatta aaatgtatgt aattatgcaa acattttaat gctattttct
     3241 gcacttattt cttttaaata ttttatttaa aatttttaat taacattttg tttgcttaat
     3301 gcttttgtta tgaatcaatt aaaattcttt attttataca actaaatctg attttaatta
     3361 ttttattatg aaaatagtat atgttaaata aaattcagat aatacagaaa tagagattgc
     3421 caaaagaaga ggcttcccgg ccgggcgcgg tggctcacgc ctgtaatccc agcactttgg
     3481 gaggccgagg cgggtggatc atgaggtcag gagatcgaga ccatcctggc taacaaggtg
     3541 aaaccccgtc tctactaaaa atacaaaaaa ttagccgggc gcggtggcgg gcgcctgtag
     3601 tcccagctac tcgggaggct gaggcaggag aatggcgtga acccgggagg cgagcttgca
     3661 gtgagccgag attgcgccac tgcagtccgc agtccggcct gggcgacaga gcgagactcc
     3721 gtctcaaaaa aaaaaaaaaa aaaaaaaaaa aaaa
//
LOCUS       NM_001017425            3875 bp    mRNA    linear   PRI 20-JUN-2023
DEFINITION  Homo sapiens potassium two pore domain channel subfamily K member 2
            (KCNK2), transcript variant 3, mRNA.
ACCESSION   NM_001017425
VERSION     NM_001017425.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3875)
  AUTHORS   Li T, Fei J, Yu H, Wang X, Li D and Yin Z.
  TITLE     Prolonged stretching of rat uteri causes hypoxia and inhibits
            contractility via potassium channel TREK1
  JOURNAL   Reproduction 166 (1), 55-64 (2023)
   PUBMED   37184053
  REMARK    GeneRIF: Prolonged stretching of rat uteri causes hypoxia and
            inhibits contractility via potassium channel TREK1. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 3875)
  AUTHORS   Wang J, Li J, Cheng D, Zhang K, Liu W, Xue Q, Du R, Zhou L, Yeung
            YT, Bai R, Huang H, Cui J, Xiang P, Zhi Y, Liu K, Li X and Dong Z.
  TITLE     miR-132-3p promotes heat stimulation-induced esophageal squamous
            cell carcinoma tumorigenesis by targeting KCNK2
  JOURNAL   Mol Carcinog 62 (5), 583-597 (2023)
   PUBMED   37014157
  REMARK    GeneRIF: miR-132-3p promotes heat stimulation-induced esophageal
            squamous cell carcinoma tumorigenesis by targeting KCNK2.
REFERENCE   3  (bases 1 to 3875)
  AUTHORS   Li T, Fei J, Yu H, Wang X, Bai J, Chen F, Li D and Yin Z.
  TITLE     High glucose induced HIF-1alpha/TREK1 expression and myometrium
            relaxation during pregnancy
  JOURNAL   Front Endocrinol (Lausanne) 14, 1115619 (2023)
   PUBMED   36909311
  REMARK    GeneRIF: High glucose induced HIF-1alpha/TREK1 expression and
            myometrium relaxation during pregnancy. Erratum:[Front Endocrinol
            (Lausanne). 2023 Apr 13;14:1200774. PMID: 37124756] Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 3875)
  AUTHORS   Zyrianova T, Lopez B, Zou K, Gu C, Pham D, Talapaneni S, Waters CM,
            Olcese R and Schwingshackl A.
  TITLE     Activation of TREK-1 (K2P2.1) potassium channels protects against
            influenza A-induced lung injury
  JOURNAL   Am J Physiol Lung Cell Mol Physiol 324 (1), L64-L75 (2023)
   PUBMED   36410022
  REMARK    GeneRIF: Activation of TREK-1 (K2P2.1) potassium channels protects
            against influenza A-induced lung injury.
REFERENCE   5  (bases 1 to 3875)
  AUTHORS   Kondo R, Deguchi A, Kawata N, Suzuki Y and Yamamura H.
  TITLE     Involvement of TREK1 channels in the proliferation of human hepatic
            stellate LX-2 cells
  JOURNAL   J Pharmacol Sci 148 (3), 286-294 (2022)
   PUBMED   35177207
  REMARK    GeneRIF: Involvement of TREK1 channels in the proliferation of human
            hepatic stellate LX-2 cells.
REFERENCE   6  (bases 1 to 3875)
  AUTHORS   Goldstein SA, Bockenhauer D, O'Kelly I and Zilberberg N.
  TITLE     Potassium leak channels and the KCNK family of two-P-domain subunits
  JOURNAL   Nat Rev Neurosci 2 (3), 175-184 (2001)
   PUBMED   11256078
  REMARK    Review article
REFERENCE   7  (bases 1 to 3875)
  AUTHORS   Meadows HJ, Benham CD, Cairns W, Gloger I, Jennings C, Medhurst AD,
            Murdock P and Chapman CG.
  TITLE     Cloning, localisation and functional expression of the human
            orthologue of the TREK-1 potassium channel
  JOURNAL   Pflugers Arch 439 (6), 714-722 (2000)
   PUBMED   10784345
REFERENCE   8  (bases 1 to 3875)
  AUTHORS   Patel AJ, Honore E, Lesage F, Fink M, Romey G and Lazdunski M.
  TITLE     Inhalational anesthetics activate two-pore-domain background K+
            channels
  JOURNAL   Nat Neurosci 2 (5), 422-426 (1999)
   PUBMED   10321245
REFERENCE   9  (bases 1 to 3875)
  AUTHORS   Lesage F and Lazdunski M.
  TITLE     Mapping of human potassium channel genes TREK-1 (KCNK2) and TASK
            (KCNK3) to chromosomes 1q41 and 2p23
  JOURNAL   Genomics 51 (3), 478-479 (1998)
   PUBMED   9721223
REFERENCE   10  (bases 1 to 3875)
  AUTHORS   Fink M, Duprat F, Lesage F, Reyes R, Romey G, Heurteaux C and
            Lazdunski M.
  TITLE     Cloning, functional expression and brain localization of a novel
            unconventional outward rectifier K+ channel
  JOURNAL   EMBO J 15 (24), 6854-6862 (1996)
   PUBMED   9003761
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.116604.1, AK291483.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000444842.7/ ENSP00000394033.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099675.2, DR001358.1,
            EF165334.1, BC069462.1, AK123409.1 and AC092804.2.
            On Jun 2, 2019 this sequence version replaced NM_001017425.2.
            Summary: This gene encodes one of the members of the
            two-pore-domain background potassium channel protein family. This
            type of potassium channel is formed by two homodimers that create a
            channel that leaks potassium out of the cell to control resting
            membrane potential. The channel can be opened, however, by certain
            anesthetics, membrane stretching, intracellular acidosis, and heat.
            Three transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (3) differs in the 5' UTR and
            beginning of the coding region compared to variant 1. The resulting
            isoform (c) is slightly shorter and has a distinct N-terminus
            compared to isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3875
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q41"
     gene            1..3875
                     /gene="KCNK2"
                     /gene_synonym="hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK;
                     TREK-1; TREK1"
                     /note="potassium two pore domain channel subfamily K member
                     2"
                     /db_xref="GeneID:3776"
                     /db_xref="HGNC:HGNC:6277"
                     /db_xref="MIM:603219"
     misc_feature    593..595
                     /gene="KCNK2"
                     /gene_synonym="hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK;
                     TREK-1; TREK1"
                     /note="upstream in-frame stop codon"
     CDS             650..1930
                     /gene="KCNK2"
                     /gene_synonym="hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK;
                     TREK-1; TREK1"
                     /note="isoform c is encoded by transcript variant 3;
                     potassium inwardly-rectifying channel, subfamily K, member
                     2; TWIK-related potassium channel 1; potassium channel, two
                     pore domain subfamily K, member 2; two-pore potassium
                     channel 1; tandem-pore-domain potassium channel TREK-1;
                     K2P2.1 potassium channel; TREK-1 K(+) channel subunit; two
                     pore potassium channel TPKC1; two pore domain potassium
                     channel TREK-1; outward rectifying potassium channel
                     protein TREK-1"
                     /codon_start=1
                     /product="potassium channel subfamily K member 2 isoform c"
                     /protein_id="NP_001017425.2"
                     /db_xref="CCDS:CCDS41467.1"
                     /db_xref="GeneID:3776"
                     /db_xref="HGNC:HGNC:6277"
                     /db_xref="MIM:603219"
                     /translation="MLPSASRERPGYRAGVAAPDLLDPKSAAQNSKPRLSFSTKPTVLA
                     SRVESDTTINVMKWKTVSTIFLVVVLYLIIGATVFKALEQPHEISQRTTIVIQKQTFIS
                     QHSCVNSTELDELIQQIVAAINAGIIPLGNTSNQISHWDLGSSFFFAGTVITTIGFGNI
                     SPRTEGGKIFCIIYALLGIPLFGFLLAGVGDQLGTIFGKGIAKVEDTFIKWNVSQTKIR
                     IISTIIFILFGCVLFVALPAIIFKHIEGWSALDAIYFVVITLTTIGFGDYVAGGSDIEY
                     LDFYKPVVWFWILVGLAYFAAVLSMIGDWLRVISKKTKEEVGEFRAHAAEWTANVTAEF
                     KETRRRLSVEIYDKFQRATSIKRKLSAELAGNHNQELTPCRRTLSVNHLTSERDVLPPL
                     LKTESIYLNGLTPHCAGEEIAVIENIK"
     misc_feature    833..895
                     /gene="KCNK2"
                     /gene_synonym="hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK;
                     TREK-1; TREK1"
                     /note="propagated from UniProtKB/Swiss-Prot (O95069.2);
                     transmembrane region"
     misc_feature    977..979
                     /gene="KCNK2"
                     /gene_synonym="hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK;
                     TREK-1; TREK1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255, ECO:0007744|PDB:4TWK; propagated
                     from UniProtKB/Swiss-Prot (O95069.2); glycosylation site"
     misc_feature    1049..1051
                     /gene="KCNK2"
                     /gene_synonym="hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK;
                     TREK-1; TREK1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O95069.2); glycosylation site"
     misc_feature    1163..1225
                     /gene="KCNK2"
                     /gene_synonym="hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK;
                     TREK-1; TREK1"
                     /note="propagated from UniProtKB/Swiss-Prot (O95069.2);
                     transmembrane region"
     misc_feature    1319..1381
                     /gene="KCNK2"
                     /gene_synonym="hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK;
                     TREK-1; TREK1"
                     /note="propagated from UniProtKB/Swiss-Prot (O95069.2);
                     transmembrane region"
     misc_feature    1511..1573
                     /gene="KCNK2"
                     /gene_synonym="hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK;
                     TREK-1; TREK1"
                     /note="propagated from UniProtKB/Swiss-Prot (O95069.2);
                     transmembrane region"
     misc_feature    1691..1693
                     /gene="KCNK2"
                     /gene_synonym="hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK;
                     TREK-1; TREK1"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:11319556; propagated from
                     UniProtKB/Swiss-Prot (O95069.2); phosphorylation site"
     misc_feature    1709..1927
                     /gene="KCNK2"
                     /gene_synonym="hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK;
                     TREK-1; TREK1"
                     /note="propagated from UniProtKB/Swiss-Prot (O95069.2);
                     Region: Required for basal channel activity.
                     /evidence=ECO:0000250"
     misc_feature    1781..1927
                     /gene="KCNK2"
                     /gene_synonym="hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK;
                     TREK-1; TREK1"
                     /note="propagated from UniProtKB/Swiss-Prot (O95069.2);
                     Region: Essential for chloroform and halothane sensitivity.
                     /evidence=ECO:0000250"
     regulatory      3006..3011
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNK2"
                     /gene_synonym="hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK;
                     TREK-1; TREK1"
                     /note="hexamer: AATAAA"
     polyA_site      3032
                     /gene="KCNK2"
                     /gene_synonym="hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK;
                     TREK-1; TREK1"
     regulatory      3853..3858
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNK2"
                     /gene_synonym="hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK;
                     TREK-1; TREK1"
                     /note="hexamer: AATAAA"
     polyA_site      3875
                     /gene="KCNK2"
                     /gene_synonym="hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK;
                     TREK-1; TREK1"
                     /note="major polyA site"
ORIGIN
        1 aaacgagccg gcaaggggcg acaggagcga gccgggaagg gagagcagcg gagggctgca
       61 gagctgcggg cgcccggacc gtgccacaca ccccccgcgg ggcacggagg gcattgcggg
      121 gggagacaca caaagacatg cgaagagggg ctgaacgagg ctcgcgcaca aagacgccgg
      181 ggcgcacggc agctggggct gcacccaccg cccccgcgcc gcgccgtgcc ggggccgggc
      241 cagcgagcag cccggggctg agcgcgtggc ggcggcggcg gcggcggcgg cggcgggcag
      301 gcgcgggacc cgggtcgccc gcgctctccg ggtgacccgg gcccggcagc aggcgcgcgc
      361 gggggcggcg gcgcccaagc ccaacttggc ctccgcctcg ccctctgccc agcccgccgg
      421 tgtcccctcc ttcccgcgat ttcgtttctt ctcacgctcc cccccccgcc ccctcccgcg
      481 tccagccccg ctctccccac cttgtaaaac aaagccgggg aaaatgcctg cccgtgcagc
      541 tcggagcgcg cagcccgtct ctgaataaga agtgagtaca atggcgtgtt tgtaaaaaaa
      601 agcttcaagt ccgtcttttt caaaaaacat tttgaatgct gcatgcctca tgcttcccag
      661 cgcctcgcgg gagagacccg gctatagagc aggagtggcg gcacctgact tgctggatcc
      721 taaatctgcc gctcagaact ccaaaccgag gctctcgttt tccacgaaac ccacagtgct
      781 tgcttcccgg gtggagagtg acacgaccat taatgttatg aaatggaaga cggtctccac
      841 gatattcctg gtggttgtcc tctatctgat catcggagcc accgtgttca aagcattgga
      901 gcagcctcat gagatttcac agaggaccac cattgtgatc cagaagcaaa cattcatatc
      961 ccaacattcc tgtgtcaatt cgacggagct ggatgaactc attcagcaaa tagtggcagc
     1021 aataaatgca gggattatac cgttaggaaa cacctccaat caaatcagtc actgggattt
     1081 gggaagttcc ttcttctttg ctggcactgt tattacaacc ataggatttg gaaacatctc
     1141 accacgcaca gaaggcggca aaatattctg tatcatctat gccttactgg gaattcccct
     1201 ctttggtttt ctcttggctg gagttggaga tcagctaggc accatatttg gaaaaggaat
     1261 tgccaaagtg gaagatacgt ttattaagtg gaatgttagt cagaccaaga ttcgcatcat
     1321 ctcaacaatc atatttatac tatttggctg tgtactcttt gtggctctgc ctgcgatcat
     1381 attcaaacac atagaaggct ggagtgccct ggacgccatt tattttgtgg ttatcactct
     1441 aacaactatt ggatttggtg actacgttgc aggtggatcc gatattgaat atctggactt
     1501 ctataagcct gtcgtgtggt tctggatcct tgtagggctt gcttactttg ctgctgtcct
     1561 gagcatgatt ggagattggc tccgagtgat atctaaaaag acaaaagaag aggtgggaga
     1621 gttcagagca cacgctgctg agtggacagc caacgtcaca gccgaattca aagaaaccag
     1681 gaggcgactg agtgtggaga tttatgacaa gttccagcgg gccacctcca tcaagcggaa
     1741 gctctcggca gaactggctg gaaaccacaa tcaggagctg actccttgta ggaggaccct
     1801 gtcagtgaac cacctgacca gcgagaggga tgtcttgcct cccttactga agactgagag
     1861 tatctatctg aatggtttga cgccacactg tgctggtgaa gagattgctg tgattgagaa
     1921 catcaaatag ccctctcttt aaataacctt aggcatagcc ataggtgagg acttctctat
     1981 gctctttatg actgttgctg gtagcatttt ttaaattgtg catgagctca aagggggaac
     2041 aaaatagata cacccatcat ggtcatctat catcaagaga atttggaatt ctgagccagc
     2101 actttctttc tgatgatgct tgttgaacgg tccactttct ttgatgagtg gaatgacaag
     2161 caatgtctga tgcctttttg tgcccagact gttttcctct ctctttccct aatgtgccat
     2221 aaggcctcag aatgaatgag aattgtttct ggtaacaatg tagctttgag ggatcagttc
     2281 ttaacttttc agggtctacc taactgagcc tagatatgga ccatttatgg atgacaacaa
     2341 tttttttttt gtaaatgaca agaaattctt atgcagcctt ttacctaaga aattttctgt
     2401 cagtgcctta tcttatgaag aaacagaacc tctctagcta atgtgtggtt tctccttccc
     2461 tgcccccacc cctaggctca cctctgcagt cttttacccc agttctccca tttgaatacc
     2521 ataccttgct ggaaacagtg tgtaaaatga ctgaagtgat gatgcccgaa gatgaaatag
     2581 atgccaaatt agatggacat tgaagcaaca ctcagcgttg cctagcgtta aaggcactgc
     2641 agagaaatga ggtgcagagg tggcccctct gagtatttat ttgactcagg taccagtggt
     2701 acatatatac agtgtaatta tgaccaggct ggtaaaattg gctgctcgca aacaatcccc
     2761 ttttttcctg gcagtatttg gaatttatca tttattaata actatacatt tttaaaggca
     2821 gaagaagaaa atctatctat ctatctatct atctatctat ctatctatct atctatctat
     2881 ctaaatgacc tgacagaaga aaactgttaa aaatggatat tattggaggg gatttaaaac
     2941 agtgggtgtg aattatcatt ctgatggaaa gaaaatagca aaacaatgtg ttacaagtat
     3001 ttgctaataa acagtatact gccagcttct aattgctttt tgatgtatga aaggcttata
     3061 taattttctt ttcgttgggt gacttttgcc agatgagagg aggtggcaca gtggtgagtg
     3121 cagggcacag tcctagcctt ctgtgggtat acttttggag ttgtgacttg gctgtgaggg
     3181 cagaagttga agttgggatc actgtgactt tgcacatgga aaaatgcaga ttgcaggcat
     3241 aattcatctc tgacattaga gaaaaagctg ttatagcaca atttaaattt tgagagtttg
     3301 ctgtgttttt ttttcacata aaagaggctg attattcttt ttagtttaat tttatatcct
     3361 gtaattcttt ggatggttcc aagattcaga aaaaattcag taaatgcacc ccgtaaattg
     3421 ctaccctttc ctttattttc atacttagat ctgctgtaca ttgtatatat atataatttt
     3481 taaaatgcag aaagaaaata atttccctaa atataattgc aaactgattt cttttacttt
     3541 tttgtgtgtg ggggtgggag ctgtatctga ataagtggca ttcagattag ggtcttgaaa
     3601 aataaaccca gaatctttaa aagaagcaaa taaactaata gacgcttatt ttccaaaatt
     3661 taaatttaag ctagaaatgt aaatattcaa ttaatttgtt aaaagtactt ttataaagtt
     3721 aaaaaaaatc caaccaaaat tttagaaagt caggctcttt tagaaagaaa gctacaccca
     3781 tttcctcaaa taactgttcc gaaaatttat atggtggaat gcgccatgta taaactgtga
     3841 attgtattga caaataaagt ttgtaattaa agtca
//
LOCUS       NM_001017437            4478 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens coiled-coil domain containing 157 (CCDC157), transcript
            variant 2, mRNA.
ACCESSION   NM_001017437
VERSION     NM_001017437.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4478)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 4478)
  AUTHORS   Bassaganyas L, Popa SJ, Horlbeck M, Puri C, Stewart SE, Campelo F,
            Ashok A, Butnaru CM, Brouwers N, Heydari K, Ripoche J, Weissman J,
            Rubinsztein DC, Schekman R, Malhotra V, Moreau K and Villeneuve J.
  TITLE     New factors for protein transport identified by a genome-wide
            CRISPRi screen in mammalian cells
  JOURNAL   J Cell Biol 218 (11), 3861-3879 (2019)
   PUBMED   31488582
  REMARK    GeneRIF: The CCDC157 is localized along the secretory pathway and
            was found to interact with resident proteins of ER-Golgi membranes.
REFERENCE   3  (bases 1 to 4478)
  AUTHORS   Yuan X, Zheng H, Su Y, Guo P, Zhang X, Zhao Q, Ge W, Li C, Xi Y and
            Yang X.
  TITLE     Drosophila Pif1A is essential for spermatogenesis and is the homolog
            of human CCDC157, a gene associated with idiopathic NOA
  JOURNAL   Cell Death Dis 10 (2), 125 (2019)
   PUBMED   30741974
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4478)
  AUTHORS   Wojczynski MK, Li M, Bielak LF, Kerr KF, Reiner AP, Wong ND, Yanek
            LR, Qu L, White CC, Lange LA, Ferguson JF, He J, Young T, Mosley TH,
            Smith JA, Kral BG, Guo X, Wong Q, Ganesh SK, Heckbert SR, Griswold
            ME, O'Leary DH, Budoff M, Carr JJ, Taylor HA Jr, Bluemke DA,
            Demissie S, Hwang SJ, Paltoo DN, Polak JF, Psaty BM, Becker DM,
            Province MA, Post WS, O'Donnell CJ, Wilson JG, Harris TB, Kavousi M,
            Cupples LA, Rotter JI, Fornage M, Becker LC, Peyser PA, Borecki IB
            and Reilly MP.
  TITLE     Genetics of coronary artery calcification among African Americans, a
            meta-analysis
  JOURNAL   BMC Med Genet 14, 75 (2013)
   PUBMED   23870195
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.215158.1,
            SRR14372080.1815703.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145245 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000338306.8/ ENSP00000343087.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004997.2.
            On Oct 19, 2020 this sequence version replaced NM_001017437.4.
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4478
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..4478
                     /gene="CCDC157"
                     /note="coiled-coil domain containing 157"
                     /db_xref="GeneID:550631"
                     /db_xref="HGNC:HGNC:33854"
                     /db_xref="MIM:619391"
     misc_feature    226..228
                     /gene="CCDC157"
                     /note="upstream in-frame stop codon"
     CDS             292..2550
                     /gene="CCDC157"
                     /note="isoform 1 is encoded by transcript variant 2;
                     coiled-coil domain-containing protein 157"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 157 isoform
                     1"
                     /protein_id="NP_001017437.3"
                     /db_xref="CCDS:CCDS33632.2"
                     /db_xref="GeneID:550631"
                     /db_xref="HGNC:HGNC:33854"
                     /db_xref="MIM:619391"
                     /translation="MAHLLGSQACMESLRTDLTDLQGAIVDVFSRAGPVRFPSWKFPDR
                     MACDLDMVALLEHYDHVPGDPEFTQLSHAVLLELVIDRLLLLLQSCMSYLENLGSEQMM
                     PPAQAAGPCMSVGLTVRRFWDSLLRLGTLHQQPLPQKGANQRETPTSKPTTKGEPARSP
                     EYLTTKLIKPSSPVLGLPQTCQEPESIPVRASLQFPATTFKNTRSVHSQTIETALVPCD
                     ACASVQGSLQKVGKVVISLCQSQNLPSSLGQFQQLVQDSMGLRPLPAATVGRWAAEQRK
                     DLTRLSKHVEALRAQLEEAEGQKDGLRKQAGKLEQALKQEQGARRRQAEEDEQCLSEWE
                     HDKQQLLTETSDLKTKMATLERELKQQRESTQAVEAKAQQLQEEGERRAAAERQVQQLE
                     EQVQQLEAQVQLLVGRLEGAGQQVCWASTELDKEKARVDSMVRHQESLQAKQRALLKQL
                     DSLDQEREELRGSLDEAEAQRARVEEQLQSEREQGQCQLRAQQELLQSLQREKQGLEQA
                     TTDLRLTILELERELEELKERERLLVAFPDLHRPTETQIHGGRSSSVESQITCPTDSGN
                     VTDHMERQVQSNDIRIRVLQEENGRLQSMLSKIREVAQQGGLKLIPQDRLWSPSSKGTQ
                     GATPPVQAKSTSPGPLGRQHLPSSRTGRTLLGQPCTSPPRQPCTSPPRQPCTSPPRQPC
                     TSPSRQPCSQPSKSLLEGVTHLDTCTQNPIKVLVRLRKRLSPGRGQASSAHQPQERPM"
     misc_feature    694..780
                     /gene="CCDC157"
                     /note="propagated from UniProtKB/Swiss-Prot (Q569K6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1237..1299
                     /gene="CCDC157"
                     /note="propagated from UniProtKB/Swiss-Prot (Q569K6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2149..2412
                     /gene="CCDC157"
                     /note="propagated from UniProtKB/Swiss-Prot (Q569K6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2482..2547
                     /gene="CCDC157"
                     /note="propagated from UniProtKB/Swiss-Prot (Q569K6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2605..2610
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC157"
                     /note="hexamer: AATAAA"
     polyA_site      2634
                     /gene="CCDC157"
                     /note="major polyA site"
     regulatory      4444..4449
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC157"
                     /note="hexamer: AATAAA"
     regulatory      4457..4462
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC157"
                     /note="hexamer: AATAAA"
     polyA_site      4463
                     /gene="CCDC157"
     polyA_site      4478
                     /gene="CCDC157"
ORIGIN
        1 gttgccaagg cagcggcctg agcgcccggc tagggctttt cggggatccc ggtggccgca
       61 ggcgcaccgg gggcagttcc gggagccgac cagacacgaa ggctgaagcc gcgacgccga
      121 agacagggtc tgaagagcta ctcagagcca accctgcact ggagacagga agccgggcac
      181 ctggatgagc ctctgaccca gagccctgga gcccataggc tcgtctgaga actagacaca
      241 ctcagtcact ccagctccac gggcagacac ctgcacagag gatctgtgag gatggcgcac
      301 ctgctgggca gccaggcctg catggagagc ctgcgcacag acctcaccga cctgcagggt
      361 gccatcgtag acgtcttctc ccgcgccggg cctgtgcgct tcccctcctg gaagttccct
      421 gaccgcatgg cctgtgacct cgacatggtg gccctgctgg agcactatga ccatgttccg
      481 ggtgaccccg agttcacgca gctgtcccat gccgtgctgc tggagctggt catcgacagg
      541 ctcctgctgc tgcttcaaag ctgtatgagc tacttggaga accttggctc agagcagatg
      601 atgccccctg cacaggctgc ggggccctgc atgtccgtgg ggctcacggt gcggcgcttc
      661 tgggacagcc tgctgaggct gggcacgctc caccagcagc cactccccca gaaaggggca
      721 aaccaaaggg agactcccac ctccaagccc accaccaagg gcgagccagc caggagccct
      781 gaatatctga ctaccaagtt aatcaagccc tcctccccag tgctaggctt gccccagacc
      841 tgccaagagc cagagagcat ccctgtcaga gcctccctgc agttcccagc cacgaccttc
      901 aagaacacca ggagtgtcca ctcccagacc attgagacgg ccctggtgcc ctgtgacgca
      961 tgcgccagcg tccagggaag cctgcagaag gtgggcaagg tggtcatcag cctgtgtcag
     1021 agccagaacc tgccctcgtc cttaggccag ttccagcaac tggtgcagga cagcatgggg
     1081 ctcaggccac tgccggctgc caccgtgggc cgctgggcag cagagcagag gaaagacctg
     1141 acgcgcctca gtaagcatgt ggaggccctc agggcccagc tggaggaggc tgaagggcag
     1201 aaggatggcc tgaggaagca ggcgggcaag ctggagcagg cgctgaaaca ggagcagggg
     1261 gcacggcggc gacaggcgga ggaggatgag cagtgcctgt ctgagtggga gcacgacaaa
     1321 cagcagctgc tcacagaaac aagtgaccta aagacaaaga tggccaccct ggagagagaa
     1381 ctgaaacagc agcgggagtc cacacaggct gtggaggcaa aggcccagca gctgcaggag
     1441 gaaggtgagc gcagggcggc agcggagagg caggtgcagc agctggagga gcaggtgcag
     1501 cagttggagg cgcaggtgca gctgttggtg ggtcggctgg agggcgctgg ccagcaggtc
     1561 tgctgggcca gcacggagct ggataaggag aaggcccgtg tcgacagcat ggtccgccac
     1621 caggagtctc tgcaggccaa gcagcgagcc ctgctaaagc agctggacag cctggaccag
     1681 gaacgtgagg agctgcgggg cagcctggac gaggctgagg cccagcgggc ccgcgtggag
     1741 gagcagctgc agagcgagcg ggagcagggg caatgccagc tcagggccca gcaggagctg
     1801 ctgcagagcc tgcagaggga gaagcaaggc ctggagcagg cgactacgga cctgcggcta
     1861 accatcctgg agctagaacg ggagctggag gagctgaagg agcgggagcg gctgctggtg
     1921 gccttcccag acctgcacag gcccaccgag acccagatcc atggaggcag atccagcagc
     1981 gtggaatccc agataacatg tcccacagac tctggcaacg tcacagatca catggagagg
     2041 caagtgcagt ccaacgacat ccgcatccgg gtcctacagg aggagaacgg gcggctccaa
     2101 tcaatgctgt ccaaaatccg ggaagtggcc cagcagggtg gcctcaagct gatcccgcag
     2161 gaccggctct ggtccccttc cagcaaggga acccagggag caacaccacc agtccaggcc
     2221 aagagcacat ccccagggcc tctgggcaga cagcaccttc ctagcagcag gacgggtagg
     2281 accctgctgg gccagccctg cacatcccca cctcggcagc cctgcacatc cccacctcgg
     2341 cagccctgca catccccacc tcggcagccc tgcacatccc catctcggca gccctgcagc
     2401 cagcccagca agtccttgct ggagggtgtg acccacttgg acacctgcac ccagaacccc
     2461 atcaaggtct tggtcaggct gagaaagaga ctgtcacctg gccggggaca ggccagctct
     2521 gcacaccagc cccaggagcg gcccatgtag cctgtggccc agggctgagg ctggatggga
     2581 ggtggctggc agcccaccca ctgtaataaa gccccagcca ttggcccaca gcaatctttg
     2641 cctcacagta tgactgagcc aaggaaagaa cccttccttc cctgtcctgg gcaggggcca
     2701 ctgagtcccc agccatgtag ttcagtcagt cagcagagtc ctggcactat gggccctcag
     2761 taaaaggggc cttcctgctt ccctcccgac agaggctgtg ggataggaga gtacacccag
     2821 ggcagaggaa gctcctaaga cctgggccag gtgaaggtcc gtttttctat ccccagagca
     2881 agggtcgagg ggtgaacctt ggctcagtgg cccgcactga ctcaggaagg ggtcaggtgg
     2941 gagtggacag aggaagggcc ggtgaggatg tctgaagcag gcagagggca gcaacgcctt
     3001 cagcctccca ccctggctct ggacctgcgc tgggcacatt aaggacccaa gaggtcaggc
     3061 ctcctttcac tgaggaactc cttgccttta ggaaatggtg accgtcatga aggtttctct
     3121 aaatcctgga gatcatagcc ccaggaggcc actgaaggcg gggcaaggcc tccaccaagc
     3181 agaggacacc ctgccagccc tggctttccc atccctgtcc cttgggggtc tcttcagccc
     3241 agggtgccat gcggccaagc atctggggct ctggttttcc tcatgaagcc accagcctac
     3301 cctgagccac ctcacctgtg aaggacaatc tccaaaaact tgctgaggcc ttctcagggc
     3361 gcacgctccc aaatgcctga agcattttcc cttggtgaag aggccgtcag gtagagcacc
     3421 tcagttcaca gagaagggtc aagaggggcc atgtatatag ctgagctacc acagctttgg
     3481 tcagcccaac ttcctgcttc tgaggggcct gggagttcct gagggaggct ggggtgcccc
     3541 gggcaccccc ctcacagggg agcaccatcc ctcagcaccc tgagccagaa ggcctgtgct
     3601 caagtccagg ggaaggacct cacagctgag tagctctctc aggcgcccac caactccgtg
     3661 ccatgtattc attagctccc agttctggca gtcagaagtc caggttctgt gtggctgggt
     3721 ttttttgctc cgggtcccag agggctgaaa ttgaggcatc taccaggttg cgttcctttc
     3781 tgccggttct ggggaagaat tggcttccaa gctccacttg ttggcagaat tccgatcctt
     3841 gcggctgtgg gactgaggtc cccatgtcct cgctggctgg ctgtaagcca ggtcctctca
     3901 cggctcctag aggccgtcca ccttccttgc catggggctc cctccatctt caagtcaaca
     3961 acagaggatt tctcatgtgc tgaatccccc acatgcttca aatccctgac ttcctcctct
     4021 tctaccagca gaaaactact ttgaataggc tcatgtggtt agggcaaggc tcacactcaa
     4081 atactttccc tatcttcagg tcagcttgct ataagacaga acccaaccat gggcataaaa
     4141 tccctttgag aagccaggcg cagtggctca cgtctgtaat cccagcactt tgggaggccg
     4201 aggcaggcgg atcacctgag atcgggagtt cgagaccagc ctgaccaaca tggagaaacc
     4261 ccgtctctac taaaaataca aaattagccg ggcgtggtgg cgcatgtctg taatcccagc
     4321 tacttgggag gctgagacag gagaattgct tgaacccggg aggcggaggt tgcagtgagg
     4381 cgagatcacg ccattgcact ccagcctggg caacaagagt gaaactccat ctcaagaaat
     4441 aaaaataaaa taaataaata aaatccctct gagtccca
//
LOCUS       NM_001017438            1066 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens cancer/testis antigen family 45 member A6 (CT45A6),
            mRNA.
ACCESSION   NM_001017438
VERSION     NM_001017438.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1066)
  AUTHORS   Chen YT, Scanlan MJ, Venditti CA, Chua R, Theiler G, Stevenson BJ,
            Iseli C, Gure AO, Vasicek T, Strausberg RL, Jongeneel CV, Old LJ and
            Simpson AJ.
  TITLE     Identification of cancer/testis-antigen genes by massively parallel
            signature sequencing
  JOURNAL   Proc Natl Acad Sci U S A 102 (22), 7940-7945 (2005)
   PUBMED   15905330
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853561.29839.1,
            SRR14038197.300622.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2151119
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000620654.2/ ENSP00000479608.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC240441.2.
            On Dec 4, 2019 this sequence version replaced NM_001017438.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1066
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     gene            1..1066
                     /gene="CT45A6"
                     /gene_synonym="CT45-5; CT45-6; CT45.6; CT45A5; CT45A7"
                     /note="cancer/testis antigen family 45 member A6"
                     /db_xref="GeneID:541465"
                     /db_xref="HGNC:HGNC:33271"
                     /db_xref="MIM:300797"
     misc_feature    161..163
                     /gene="CT45A6"
                     /gene_synonym="CT45-5; CT45-6; CT45.6; CT45A5; CT45A7"
                     /note="upstream in-frame stop codon"
     CDS             284..853
                     /gene="CT45A6"
                     /gene_synonym="CT45-5; CT45-6; CT45.6; CT45A5; CT45A7"
                     /note="cancer/testis antigen CT45-6; cancer/testis antigen
                     family 45 member A4/A6; cancer/testis antigen 45-4/6;
                     cancer/testis antigen 45A4/45A6; cancer/testis antigen
                     45-6; cancer/testis antigen 45A6; Cancer/testis antigen
                     family 45 member A5; Cancer/testis antigen 45-5;
                     Cancer/testis antigen 45A5; Cancer/testis antigen family 45
                     member A7; Cancer/testis antigen 45A7"
                     /codon_start=1
                     /product="cancer/testis antigen family 45 member A6"
                     /protein_id="NP_001017438.2"
                     /db_xref="CCDS:CCDS35407.1"
                     /db_xref="GeneID:541465"
                     /db_xref="HGNC:HGNC:33271"
                     /db_xref="MIM:300797"
                     /translation="MTDKTEKVAVDPETVFKRPRECDSPSYQKRQRMALLARKQGAGDS
                     LIAGSAMSKEKKLMTGHAIPPSQLDSQIDDFTGFSKDGMMQKPGSNAPVGGNVTSSFSG
                     DDLECRETASSPKSQREINADIKRKLVKELRCVGQKYEKIFEMLEGVQGPTAVRKRFFE
                     SIIKEAARCMRRDFVKHLKKKLKRMI"
     misc_feature    284..364
                     /gene="CT45A6"
                     /gene_synonym="CT45-5; CT45-6; CT45.6; CT45A5; CT45A7"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DMU7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    527..637
                     /gene="CT45A6"
                     /gene_synonym="CT45-5; CT45-6; CT45.6; CT45A5; CT45A7"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DMU7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 gcttctcctc agcgctctgg cgcccccaac aggttcccag tgttcggctg gggcaggcac
       61 gctgtggctg gctacttccc ttcctcccat cccccttggg ccaaacggga tcggtgcttc
      121 tggtgagacg cctccccatg cacatcactc ccaggtgccc tagggggcac atttcccaca
      181 actcccagag ggcaggtttc tagaaagtgc caccagtggg gaggcgccac aacttcactg
      241 ccattttgtg aggtgccgcc gtctctcctc cagcaaggaa acaatgaccg ataaaacaga
      301 gaaggtggct gtagatcctg aaactgtgtt taaacgtccc agggaatgtg acagtccttc
      361 gtatcagaaa aggcagagga tggccctgtt ggcaaggaaa caaggagcag gagacagcct
      421 tattgcaggc tctgccatgt ccaaagaaaa gaagcttatg acaggacatg ctattccacc
      481 cagccaattg gattctcaga ttgatgactt cactggtttc agcaaagatg ggatgatgca
      541 gaaacctggt agcaatgcac ctgtgggagg aaacgttacc agcagtttct ctggagatga
      601 cctagaatgc agagaaacag cctcctctcc caaaagccaa cgagaaatta atgctgatat
      661 aaaacgtaaa ttagtgaagg aactccgatg cgttggacaa aaatatgaaa aaatcttcga
      721 aatgcttgaa ggagtgcaag gacctactgc agtcaggaag cgattttttg aatccatcat
      781 caaggaagca gcaagatgta tgagacgaga ctttgttaag caccttaaga agaaactgaa
      841 acgtatgatt tgagaatact tgtccctgga ggattatcac accccaaatg cataatctcg
      901 ttaatgattg aggagagaaa aggatcagat tgctgttttc tacaatggag caggatattg
      961 ctgaagtctc ctggcatatg ttaccgaatc aactggcctt ccagaggcta agaaatttct
     1021 gttagtaaaa gatgttcttt ttcccaaagc gttttatttg aaagga
//
LOCUS       NM_001017915            4902 bp    mRNA    linear   PRI 26-JUN-2023
DEFINITION  Homo sapiens inositol polyphosphate-5-phosphatase D (INPP5D),
            transcript variant 1, mRNA.
ACCESSION   NM_001017915
VERSION     NM_001017915.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4902)
  AUTHORS   Ehm PAH, Linnebacher M, Block A, Rehbach C and Jucker M.
  TITLE     Targeted hyperactivation of AKT through inhibition of ectopic
            expressed SHIP1 induces cell death in colon carcinoma cells and
            derived metastases
  JOURNAL   Cell Signal 108, 110720 (2023)
   PUBMED   37207939
  REMARK    GeneRIF: Targeted hyperactivation of AKT through inhibition of
            ectopic expressed SHIP1 induces cell death in colon carcinoma cells
            and derived metastases.
REFERENCE   2  (bases 1 to 4902)
  AUTHORS   Ehm P, Bettin B and Jucker M.
  TITLE     Activated Src kinases downstream of BCR-ABL and Flt3 induces
            proteasomal degradation of SHIP1 by phosphorylation of tyrosine 1021
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1870 (5), 119467 (2023)
   PUBMED   36958526
  REMARK    GeneRIF: Activated Src kinases downstream of BCR-ABL and Flt3
            induces proteasomal degradation of SHIP1 by phosphorylation of
            tyrosine 1021.
REFERENCE   3  (bases 1 to 4902)
  AUTHORS   Gelemanovic A, Catipovic Ardalic T, Pribisalic A, Hayward C, Kolcic
            I and Polasek O.
  TITLE     Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to
            Predict Common Human Infectious Diseases Risk
  JOURNAL   Int J Mol Sci 24 (8), 7006 (2023)
   PUBMED   37108169
  REMARK    GeneRIF: Genome-Wide Meta-Analysis Identifies Multiple Novel Rare
            Variants to Predict Common Human Infectious Diseases Risk.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4902)
  AUTHORS   Nalaskowski MM, Metzner A, Brehm MA, Labiadh S, Brauer H, Grabinski
            N, Mayr GW and Jucker M.
  TITLE     The inositol 5-phosphatase SHIP1 is a nucleo-cytoplasmic shuttling
            protein and enzymatically active in cell nuclei
  JOURNAL   Cell Signal 24 (3), 621-628 (2012)
   PUBMED   21864674
  REMARK    GeneRIF: The identification of SHIP1 as a nuclear inositol 5
            phosphatase adds another member of the phosphoinositide and inositol
            modulating molecules to the emerging network of inositide signaling
            in the nucleus.
REFERENCE   5  (bases 1 to 4902)
  AUTHORS   Kerr WG.
  TITLE     Inhibitor and activator: dual functions for SHIP in immunity and
            cancer
  JOURNAL   Ann N Y Acad Sci 1217, 1-17 (2011)
   PUBMED   21155837
  REMARK    GeneRIF: This review summarizes how SHIP participates in normal
            immune physiology or the pathologies that result when SHIP is
            mutated. SHIP can have either inhibitory or activating roles in cell
            signaling. Review article
REFERENCE   6  (bases 1 to 4902)
  AUTHORS   Ware MD, Rosten P, Damen JE, Liu L, Humphries RK and Krystal G.
  TITLE     Cloning and characterization of human SHIP, the 145-kD inositol
            5-phosphatase that associates with SHC after cytokine stimulation
  JOURNAL   Blood 88 (8), 2833-2840 (1996)
   PUBMED   8874179
REFERENCE   7  (bases 1 to 4902)
  AUTHORS   Drayer AL, Pesesse X, De Smedt F, Woscholski R, Parker P and Erneux
            C.
  TITLE     Cloning and expression of a human placenta inositol
            1,3,4,5-tetrakisphosphate and phosphatidylinositol
            3,4,5-trisphosphate 5-phosphatase
  JOURNAL   Biochem Biophys Res Commun 225 (1), 243-249 (1996)
   PUBMED   8769125
REFERENCE   8  (bases 1 to 4902)
  AUTHORS   Lioubin MN, Algate PA, Tsai S, Carlberg K, Aebersold A and
            Rohrschneider LR.
  TITLE     p150Ship, a signal transduction molecule with inositol
            polyphosphate-5-phosphatase activity
  JOURNAL   Genes Dev 10 (9), 1084-1095 (1996)
   PUBMED   8654924
REFERENCE   9  (bases 1 to 4902)
  AUTHORS   Kavanaugh WM, Pot DA, Chin SM, Deuter-Reinhard M, Jefferson AB,
            Norris FA, Masiarz FR, Cousens LS, Majerus PW and Williams LT.
  TITLE     Multiple forms of an inositol polyphosphate 5-phosphatase form
            signaling complexes with Shc and Grb2
  JOURNAL   Curr Biol 6 (4), 438-445 (1996)
   PUBMED   8723348
REFERENCE   10  (bases 1 to 4902)
  AUTHORS   Damen JE, Liu L, Rosten P, Humphries RK, Jefferson AB, Majerus PW
            and Krystal G.
  TITLE     The 145-kDa protein induced to associate with Shc by multiple
            cytokines is an inositol tetraphosphate and phosphatidylinositol
            3,4,5-triphosphate 5-phosphatase
  JOURNAL   Proc Natl Acad Sci U S A 93 (4), 1689-1693 (1996)
   PUBMED   8643691
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.38964.1, U84400.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000445964.6/ ENSP00000405338.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AW503130.1, U53470.1 and
            BC099920.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 24, 2018 this sequence version replaced NM_001017915.2.
            Summary: This gene is a member of the inositol
            polyphosphate-5-phosphatase (INPP5) family and encodes a protein
            with an N-terminal SH2 domain, an inositol phosphatase domain, and
            two C-terminal protein interaction domains. Expression of this
            protein is restricted to hematopoietic cells where its movement
            from the cytosol to the plasma membrane is mediated by tyrosine
            phosphorylation. At the plasma membrane, the protein hydrolyzes the
            5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and
            inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple
            signaling pathways. The protein is also partly localized to the
            nucleus, where it may be involved in nuclear inositol phosphate
            signaling processes. Overall, the protein functions as a negative
            regulator of myeloid cell proliferation and survival. Mutations in
            this gene are associated with defects and cancers of the immune
            system. Deficiencies in the encoded protein, SHIP1, have been
            associated with Inflammatory Bowel Disease types such as Crohn's
            Disease and Ulcerative Colitis. Alternative splicing of this gene
            results in multiple transcript variants. [provided by RefSeq, Jul
            2020].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4902
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..4902
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="inositol polyphosphate-5-phosphatase D"
                     /db_xref="GeneID:3635"
                     /db_xref="HGNC:HGNC:6079"
                     /db_xref="MIM:601582"
     CDS             138..3707
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /EC_number="3.1.3.56"
                     /EC_number="3.1.3.36"
                     /EC_number="3.1.3.86"
                     /note="isoform a is encoded by transcript variant 1;
                     signaling inositol polyphosphate 5 phosphatase SIP-145;
                     inositol polyphosphate-5-phosphatase, 145kDa; SH2
                     domain-containing inositol 5'-phosphatase 1;
                     phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1;
                     signaling inositol polyphosphate phosphatase SHIP II;
                     phosphatidylinositol 4,5-bisphosphate 5-phosphatase"
                     /codon_start=1
                     /product="phosphatidylinositol 3,4,5-trisphosphate
                     5-phosphatase 1 isoform a"
                     /protein_id="NP_001017915.1"
                     /db_xref="CCDS:CCDS74672.1"
                     /db_xref="GeneID:3635"
                     /db_xref="HGNC:HGNC:6079"
                     /db_xref="MIM:601582"
                     /translation="MVPCWNHGNITRSKAEELLSRTGKDGSFLVRASESISRAYALCVL
                     YRNCVYTYRILPNEDDKFTVQASEGVSMRFFTKLDQLIEFYKKENMGLVTHLQYPVPLE
                     EEDTGDDPEEDTVESVVSPPELPPRNIPLTASSCEAKEVPFSNENPRATETSRPSLSET
                     LFQRLQSMDTSGLPEEHLKAIQDYLSTQLAQDSEFVKTGSSSLPHLKKLTTLLCKELYG
                     EVIRTLPSLESLQRLFDQQLSPGLRPRPQVPGEANPINMVSKLSQLTSLLSSIEDKVKA
                     LLHEGPESPHRPSLIPPVTFEVKAESLGIPQKMQLKVDVESGKLIIKKSKDGSEDKFYS
                     HKKILQLIKSQKFLNKLVILVETEKEKILRKEYVFADSKKREGFCQLLQQMKNKHSEQP
                     EPDMITIFIGTWNMGNAPPPKKITSWFLSKGQGKTRDDSADYIPHDIYVIGTQEDPLSE
                     KEWLEILKHSLQEITSVTFKTVAIHTLWNIRIVVLAKPEHENRISHICTDNVKTGIANT
                     LGNKGAVGVSFMFNGTSLGFVNSHLTSGSEKKLRRNQNYMNILRFLALGDKKLSPFNIT
                     HRFTHLFWFGDLNYRVDLPTWEAETIIQKIKQQQYADLLSHDQLLTERREQKVFLHFEE
                     EEITFAPTYRFERLTRDKYAYTKQKATGMKYNLPSWCDRVLWKSYPLVHVVCQSYGSTS
                     DIMTSDHSPVFATFEAGVTSQFVSKNGPGTVDSQGQIEFLRCYATLKTKSQTKFYLEFH
                     SSCLESFVKSQEGENEEGSEGELVVKFGETLPKLKPIISDPEYLLDQHILISIKSSDSD
                     ESYGEGCIALRLEATETQLPIYTPLTHHGELTGHFQGEIKLQTSQGKTREKLYDFVKTE
                     RDESSGPKTLKSLTSHDPMKQWEVTSRAPPCSGSSITEIINPNYMGVGPFGPPMPLHVK
                     QTLSPDQQPTAWSYDQPPKDSPLGPCRGESPPTPPGQPPISPKKFLPSTANRGLPPRTQ
                     ESRPSDLGKNAGDTLPQEDLPLTKPEMFENPLYGSLSSFPKPAPRKDQESPKMPRKEPP
                     PCPEPGILSPSIVLTKAQEADRGEGPGKQVPAPRLRSFTCSSSAEGRAAGGDKSQGKPK
                     TPVSSQAPVPAKRPIKPSRSEINQQTPPTPTPRPPLPVKSPAVLHLQHSKGRDYRDNTE
                     LPHHGKHRPEEGPPGPLGRTAMQ"
     misc_feature    444..533
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92835.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    507..524
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92835.2);
                     Region: SH3-binding 1"
     misc_feature    864..866
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ES52; propagated from
                     UniProtKB/Swiss-Prot (Q92835.2); phosphorylation site"
     misc_feature    2745..2855
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92835.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2871..2882
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92835.2);
                     Region: NPXY motif 1"
     misc_feature    2880..2882
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455; propagated from
                     UniProtKB/Swiss-Prot (Q92835.2); phosphorylation site"
     misc_feature    2901..3704
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92835.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2937..2939
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ES52; propagated from
                     UniProtKB/Swiss-Prot (Q92835.2); phosphorylation site"
     misc_feature    2967..2969
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q9ES52; propagated from
                     UniProtKB/Swiss-Prot (Q92835.2); phosphorylation site"
     misc_feature    3015..3017
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92835.2); phosphorylation site"
     misc_feature    3024..3026
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92835.2); phosphorylation site"
     misc_feature    3042..3059
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92835.2);
                     Region: SH3-binding 2"
     misc_feature    3048..3050
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92835.2); phosphorylation site"
     misc_feature    3183..3227
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92835.2);
                     Region: Interaction with DAB2. /evidence=ECO:0000250"
     misc_feature    3192..3203
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92835.2);
                     Region: NPXY motif 2"
     misc_feature    3201..3203
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q9ES52; propagated from
                     UniProtKB/Swiss-Prot (Q92835.2); phosphorylation site"
     misc_feature    3255..3290
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92835.2);
                     Region: SH3-binding 3"
     regulatory      4879..4884
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="hexamer: AATAAA"
     polyA_site      4902
                     /gene="INPP5D"
                     /gene_synonym="hp51CN; p150Ship; SHIP; SHIP-1; SHIP1;
                     SIP-145"
                     /note="major polyA site"
ORIGIN
        1 agttaagctg gtggcagcag ccgaggccac caagaggcaa cgggcggcag gttgcagtgg
       61 aggggcctcc gctcccctcg gtggtgtgtg ggtcctgggg gtgcctgccg gcccggccga
      121 ggaggcccac gcccaccatg gtcccctgct ggaaccatgg caacatcacc cgctccaagg
      181 cggaggagct gctttccagg acaggcaagg acgggagctt cctcgtgcgt gccagcgagt
      241 ccatctcccg ggcatacgcg ctctgcgtgc tgtatcggaa ttgcgtttac acttacagaa
      301 ttctgcccaa tgaagatgat aaattcactg ttcaggcatc cgaaggcgtc tccatgaggt
      361 tcttcaccaa gctggaccag ctcatcgagt tttacaagaa ggaaaacatg gggctggtga
      421 cccatctgca ataccctgtg ccgctggagg aagaggacac aggcgacgac cctgaggagg
      481 acacagtaga aagtgtcgtg tctccacccg agctgccccc aagaaacatc ccgctgactg
      541 ccagctcctg tgaggccaag gaggttcctt tttcaaacga gaatccccga gcgaccgaga
      601 ccagccggcc gagcctctcc gagacattgt tccagcgact gcaaagcatg gacaccagtg
      661 ggcttccaga agagcatctt aaggccatcc aagattattt aagcactcag ctcgcccagg
      721 actctgaatt tgtgaagaca gggtccagca gtcttcctca cctgaagaaa ctgaccacac
      781 tgctctgcaa ggagctctat ggagaagtca tccggaccct cccatccctg gagtctctgc
      841 agaggttatt tgaccagcag ctctccccgg gcctccgtcc acgtcctcag gttcctggtg
      901 aggccaatcc catcaacatg gtgtccaagc tcagccaact gacaagcctg ttgtcgtcca
      961 ttgaagacaa ggtcaaggcc ttgctgcacg agggtcctga gtctccgcac cggccctccc
     1021 ttatccctcc agtcaccttt gaggtgaagg cagagtctct ggggattcct cagaaaatgc
     1081 agctcaaagt cgacgttgag tctgggaaac tgatcattaa gaagtccaag gatggttctg
     1141 aggacaagtt ctacagccac aagaaaatcc tgcagctcat taagtcacag aaatttctga
     1201 ataagttggt gatcttggtg gaaacagaga aggagaagat cctgcggaag gaatatgttt
     1261 ttgctgactc caaaaagaga gaaggcttct gccagctcct gcagcagatg aagaacaagc
     1321 actcagagca gccggagccc gacatgatca ccatcttcat cggcacctgg aacatgggta
     1381 acgccccccc tcccaagaag atcacgtcct ggtttctctc caaggggcag ggaaagacgc
     1441 gggacgactc tgcggactac atcccccatg acatttacgt gatcggcacc caagaggacc
     1501 ccctgagtga gaaggagtgg ctggagatcc tcaaacactc cctgcaagaa atcaccagtg
     1561 tgacttttaa aacagtcgcc atccacacgc tctggaacat ccgcatcgtg gtgctggcca
     1621 agcctgagca cgagaaccgg atcagccaca tctgtactga caacgtgaag acaggcattg
     1681 caaacacact ggggaacaag ggagccgtgg gggtgtcgtt catgttcaat ggaacctcct
     1741 tagggttcgt caacagccac ttgacttcag gaagtgaaaa gaaactcagg cgaaaccaaa
     1801 actatatgaa cattctccgg ttcctggccc tgggcgacaa gaagctgagt ccctttaaca
     1861 tcactcaccg cttcacgcac ctcttctggt ttggggatct taactaccgt gtggatctgc
     1921 ctacctggga ggcagaaacc atcatccaga aaatcaagca gcagcagtac gcagacctcc
     1981 tgtcccacga ccagctgctc acagagagga gggagcagaa ggtcttccta cacttcgagg
     2041 aggaagaaat cacgtttgcc ccaacctacc gttttgagag actgactcgg gacaaatacg
     2101 cctacaccaa gcagaaagcg acagggatga agtacaactt gccttcctgg tgtgaccgag
     2161 tcctctggaa gtcttatccc ctggtgcacg tggtgtgtca gtcttatggc agtaccagcg
     2221 acatcatgac gagtgaccac agccctgtct ttgccacatt tgaggcagga gtcacttccc
     2281 agtttgtctc caagaacggt cccgggactg ttgacagcca aggacagatt gagtttctca
     2341 ggtgctatgc cacattgaag accaagtccc agaccaaatt ctacctggag ttccactcga
     2401 gctgcttgga gagttttgtc aagagtcagg aaggagaaaa tgaagaagga agtgaggggg
     2461 agctggtggt gaagtttggt gagactcttc caaagctgaa gcccattatc tctgaccctg
     2521 agtacctgct agaccagcac atcctcatca gcatcaagtc ctctgacagc gacgaatcct
     2581 atggcgaggg ctgcattgcc cttcggttag aggccacaga aacgcagctg cccatctaca
     2641 cgcctctcac ccaccatggg gagttgacag gccacttcca gggggagatc aagctgcaga
     2701 cctctcaggg caagacgagg gagaagctct atgactttgt gaagacggag cgtgatgaat
     2761 ccagtgggcc aaagaccctg aagagcctca ccagccacga ccccatgaag cagtgggaag
     2821 tcactagcag ggcccctccg tgcagtggct ccagcatcac tgaaatcatc aaccccaact
     2881 acatgggagt ggggcccttt gggccaccaa tgcccctgca cgtgaagcag accttgtccc
     2941 ctgaccagca gcccacagcc tggagctacg accagccgcc caaggactcc ccgctggggc
     3001 cctgcagggg agaaagtcct ccgacacctc ccggccagcc gcccatatca cccaagaagt
     3061 ttttaccctc aacagcaaac cggggtctcc ctcccaggac acaggagtca aggcccagtg
     3121 acctggggaa gaacgcaggg gacacgctgc ctcaggagga cctgccgctg acgaagcccg
     3181 agatgtttga gaaccccctg tatgggtccc tgagttcctt ccctaagcct gctcccagga
     3241 aggaccagga atcccccaaa atgccgcgga aggaaccccc gccctgcccg gaacccggca
     3301 tcttgtcgcc cagcatcgtg ctcaccaaag cccaggaggc tgatcgcggc gaggggcccg
     3361 gcaagcaggt gcccgcgccc cggctgcgct ccttcacgtg ctcatcctct gccgagggca
     3421 gggcggccgg cggggacaag agccaaggga agcccaagac cccggtcagc tcccaggccc
     3481 cggtgccggc caagaggccc atcaagcctt ccagatcgga aatcaaccag cagaccccgc
     3541 ccaccccgac gccgcggccg ccgctgccag tcaagagccc ggcggtgctg cacctccagc
     3601 actccaaggg ccgcgactac cgcgacaaca ccgagctccc gcatcacggc aagcaccggc
     3661 cggaggaggg gccaccaggg cctctaggca ggactgccat gcagtgaagc cctcagtgag
     3721 ctgccactga gtcgggagcc cagaggaacg gcgtgaagcc actggaccct ctcccgggac
     3781 ctcctgctgg ctcctcctgc ccagcttcct atgcaaggct ttgtgttttc aggaaagggc
     3841 ctagcttctg tgtggcccac agagttcact gcctgtgaga cttagcacca agtgctgagg
     3901 ctggaagaaa aacgcacacc agacgggcaa caaacagtct gggtccccag ctcgctcttg
     3961 gtacttggga ccccagtgcc tcgttgaggg cgccattctg aagaaaggaa ctgcagcgcc
     4021 gatttgaggg tggagatata gataataata atattaataa taataatggc cacatggatc
     4081 gaacactcat gatgtgccaa gtgctgtgct aagtgcttta cgaacattcg tcatatcagg
     4141 atgacctcga gagctgaggc tctagccacc taaaaccacg tgcccaaacc caccagttta
     4201 aaacggtgtg tgttcggagg ggtgaaagca ttaagaagcc cagtgccctc ctggagtgag
     4261 acaagggctc ggccttaagg agctgaagag tctgggtagc ttgtttaggg tacaagaagc
     4321 ctgttctgtc cagcttcagt gacacaagct gctttagcta aagtcccgcg ggttccggca
     4381 tggctaggct gagagcaggg atctacctgg cttctcagtt ctttggttgg aaggagcagg
     4441 aaatcagctc ctattctcca gtggagagat ctggcctcag cttgggctag agatgccaag
     4501 gcctgtgcca ggttccctgt gccctcctcg aggtgggcag ccatcaccag ccacagttaa
     4561 gccaagcccc ccaacatgta ttccatcgtg ctggtagaag agtctttgct gttgctcccg
     4621 aaagccgtgc tctccagcct ggctgccagg gagggtgggc ctcttggttc caggctcttg
     4681 aaatagtgca gccttttctt cctatctctg tggctttcag ctctgcttcc ttggttatta
     4741 ggagaataga tgggtgatgt ctttccttat gttgcttttt caacatagca gaattaatgt
     4801 agggagctaa atccagtggt gtgtgtgaat gcagaaggga atgcacccca cattcccatg
     4861 atggaagtct gcgtaaccaa taaattgtgc ctttctcact ca
//
LOCUS       NM_001017919            2675 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens RCC1 domain containing 1 (RCCD1), transcript variant 2,
            mRNA.
ACCESSION   NM_001017919
VERSION     NM_001017919.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2675)
  AUTHORS   Cheng Z, Hou S, Wu Y, Wang X, Sun Y, Liu B and Yuan M.
  TITLE     LINC01419 promotes cell proliferation and metastasis in lung
            adenocarcinoma via sponging miR-519b-3p to up-regulate RCCD1
  JOURNAL   Biochem Biophys Res Commun 520 (1), 107-114 (2019)
   PUBMED   31582214
  REMARK    GeneRIF: miR-519b-3p binds to LINC01419 and has a role in
            upregulating RCCD1 in lung adenocarcinoma cells
REFERENCE   2  (bases 1 to 2675)
  AUTHORS   Wilkins SE, Islam MS, Gannon JM, Markolovic S, Hopkinson RJ, Ge W,
            Schofield CJ and Chowdhury R.
  TITLE     JMJD5 is a human arginyl C-3 hydroxylase
  JOURNAL   Nat Commun 9 (1), 1180 (2018)
   PUBMED   29563586
  REMARK    GeneRIF: JMJD5 catalyzes stereoselective C-3 hydroxylation of
            arginine residues in sequences from human RCCD1 and ribosomal
            protein S6. Erratum:[Nat Commun. 2018 Apr 23;9(1):1675. PMID:
            29686330] Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2675)
  AUTHORS   Wu J, He Z, Yang XM, Li KL, Wang DL and Sun FL.
  TITLE     RCCD1 depletion attenuates TGF-beta-induced EMT and cell migration
            by stabilizing cytoskeletal microtubules in NSCLC cells
  JOURNAL   Cancer Lett 400, 18-29 (2017)
   PUBMED   28455245
  REMARK    GeneRIF: RCCD1 as a novel regulator of TGF-beta-induced epithelial
            mesenchymal transformation and cell migration in non-small lung
            carcinoma cells.
REFERENCE   4  (bases 1 to 2675)
  AUTHORS   Hoffman JD, Graff RE, Emami NC, Tai CG, Passarelli MN, Hu D,
            Huntsman S, Hadley D, Leong L, Majumdar A, Zaitlen N, Ziv E and
            Witte JS.
  TITLE     Cis-eQTL-based trans-ethnic meta-analysis reveals novel genes
            associated with breast cancer risk
  JOURNAL   PLoS Genet 13 (3), e1006690 (2017)
   PUBMED   28362817
  REMARK    GeneRIF: Expression of RCCD1 in whole blood was also suggestively
            associated with disease risk (p-value: 1.2x10-05), as were
            expression of ACAP1 (p-value: 1.9x10-05) and LRRC25 (p-value:
            5.2x10-05). While genome-wide association studies (GWAS) have
            implicated RCCD1 and ANKLE1 in breast cancer risk, they have not
            identified the remaining three genes Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2675)
  AUTHORS   Cai Q, Zhang B, Sung H, Low SK, Kweon SS, Lu W, Shi J, Long J, Wen
            W, Choi JY, Noh DY, Shen CY, Matsuo K, Teo SH, Kim MK, Khoo US,
            Iwasaki M, Hartman M, Takahashi A, Ashikawa K, Matsuda K, Shin MH,
            Park MH, Zheng Y, Xiang YB, Ji BT, Park SK, Wu PE, Hsiung CN, Ito H,
            Kasuga Y, Kang P, Mariapun S, Ahn SH, Kang HS, Chan KY, Man EP,
            Iwata H, Tsugane S, Miao H, Liao J, Nakamura Y, Kubo M, Delahanty
            RJ, Zhang Y, Li B, Li C, Gao YT, Shu XO, Kang D and Zheng W.
  CONSRTM   DRIVE GAME-ON Consortium
  TITLE     Genome-wide association analysis in East Asians identifies breast
            cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1
  JOURNAL   Nat Genet 46 (8), 886-890 (2014)
   PUBMED   25038754
REFERENCE   6  (bases 1 to 2675)
  AUTHORS   Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB,
            Silverman-Gavrila R, Silverman-Gavrila L, Phanse S, Guo H, Zhong G,
            Guo X, Young P, Bailey S, Roudeva D, Zhao D, Hewel J, Li J, Graslund
            S, Paduch M, Kossiakoff AA, Lupien M, Emili A, Wodak SJ and
            Greenblatt J.
  TITLE     Human-chromatin-related protein interactions identify a demethylase
            complex required for chromosome segregation
  JOURNAL   Cell Rep 8 (1), 297-310 (2014)
   PUBMED   24981860
  REMARK    GeneRIF: RCCD1 and KDM8 form a histone demethylase complex.
REFERENCE   7  (bases 1 to 2675)
  AUTHORS   Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K, Whittaker
            CA, Kamal M, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Kodira CD,
            Madan A, Qin S, Yang X, Abbasi N, Abouelleil A, Arachchi HM,
            Baradarani L, Birditt B, Bloom S, Bloom T, Borowsky ML, Burke J,
            Butler J, Cook A, DeArellano K, DeCaprio D, Dorris L 3rd, Dors M,
            Eichler EE, Engels R, Fahey J, Fleetwood P, Friedman C, Gearin G,
            Hall JL, Hensley G, Johnson E, Jones C, Kamat A, Kaur A, Locke DP,
            Madan A, Munson G, Jaffe DB, Lui A, Macdonald P, Mauceli E, Naylor
            JW, Nesbitt R, Nicol R, O'Leary SB, Ratcliffe A, Rounsley S, She X,
            Sneddon KM, Stewart S, Sougnez C, Stone SM, Topham K, Vincent D,
            Wang S, Zimmer AR, Birren BW, Hood L, Lander ES and Nusbaum C.
  TITLE     Analysis of the DNA sequence and duplication history of human
            chromosome 15
  JOURNAL   Nature 440 (7084), 671-675 (2006)
   PUBMED   16572171
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC140709.1, SRR11853559.11655.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000394258.7/ ENSP00000377801.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BQ924078.1, BU850147.1, BC008845.2, AL527085.3 and AA564459.1.
            On Aug 13, 2020 this sequence version replaced NM_001017919.1.
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same protein.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2675
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     gene            1..2675
                     /gene="RCCD1"
                     /note="RCC1 domain containing 1"
                     /db_xref="GeneID:91433"
                     /db_xref="HGNC:HGNC:30457"
                     /db_xref="MIM:617997"
     CDS             189..1319
                     /gene="RCCD1"
                     /codon_start=1
                     /product="RCC1 domain-containing protein 1"
                     /protein_id="NP_001017919.1"
                     /db_xref="CCDS:CCDS32333.1"
                     /db_xref="GeneID:91433"
                     /db_xref="HGNC:HGNC:30457"
                     /db_xref="MIM:617997"
                     /translation="MAEERPGAWFGFGFCGFGQELGSGRGRQVHSPSPLRAGVDICRVS
                     ASWSYTAFVTRGGRLELSGSASGAAGRCKDAWASEGLLAVLRAGPGPEALLQVWAAESA
                     LRGEPLWAQNVVPEAEGEDDPAGEAQAGRLPLLPCARAYVSPRAPFYRPLAPELRARQL
                     ELGAEHALLLDAAGQVFSWGGGRHGQLGHGTLEAELEPRLLEALQGLVMAEVAAGGWHS
                     VCVSETGDIYIWGWNESGQLALPTRNLAEDGETVAREATELNEDGSQVKRTGGAEDGAP
                     APFIAVQPFPALLDLPMGSDAVKASCGSRHTAVVTRTGELYTWGWGKYGQLGHEDTTSL
                     DRPRRVEYFVDKQLQVKAVTCGPWNTYVYAVEKGKS"
     misc_feature    189..695
                     /gene="RCCD1"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NED2.1);
                     Region: Interaction with KDM8.
                     /evidence=ECO:0000269|PubMed:24981860"
     misc_feature    609..611
                     /gene="RCCD1"
                     /note="(3R)-3-hydroxyarginine.
                     /evidence=ECO:0000269|PubMed:29563586; propagated from
                     UniProtKB/Swiss-Prot (A6NED2.1); hydroxylation site"
     misc_feature    714..869
                     /gene="RCCD1"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NED2.1);
                     Region: RCC1 2"
     misc_feature    873..1139
                     /gene="RCCD1"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NED2.1);
                     Region: RCC1 3"
     misc_feature    1140..1301
                     /gene="RCCD1"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NED2.1);
                     Region: RCC1 4"
     regulatory      1755..1760
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RCCD1"
                     /note="hexamer: GATAAA"
     polyA_site      1774
                     /gene="RCCD1"
                     /note="major polyA site"
     regulatory      1872..1877
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RCCD1"
                     /note="hexamer: AATAAT"
     polyA_site      1897
                     /gene="RCCD1"
     regulatory      2649..2654
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RCCD1"
                     /note="hexamer: AACAAA"
     polyA_site      2675
                     /gene="RCCD1"
ORIGIN
        1 gcttcctgtt ggggcatgag tccggcgcgt gtcgggtttt gagctgccgc ggtcccggga
       61 ctgagataag gcagctccag cccctggaag gccagagact tgccagtgtc ccactagcgg
      121 gctcttcgca agaatccccc cgggcccgcc gcagccaggc ggcggccggc agagggcgct
      181 gctcgggcat ggcggaggag cggccggggg cctggttcgg cttcggtttc tgcggcttcg
      241 ggcaggagct gggctccgga cgcgggcgcc aggtgcacag ccccagtccg ctgcgggcgg
      301 gcgtcgacat ctgccgcgtg agcgcgagct ggagctacac cgctttcgtg acccgtggag
      361 gccgcttgga gctgtcgggc tcagccagcg gcgcggcggg ccgctgcaag gacgcgtggg
      421 cctcggaggg gctcctcgcg gtgctgcgcg ccgggccggg gccggaggcg ttactgcagg
      481 tctgggcggc cgaatcggcg ctgcgtgggg agccattgtg ggcccagaat gtggtgcccg
      541 aggccgaagg ggaagacgat ccggccggtg aggcccaggc tgggaggcta cccctgctgc
      601 cctgcgcccg tgcctacgtg agcccgcggg cgcccttcta ccggcctctg gctccggagc
      661 tgcgggcacg ccagctggag ctgggcgccg agcacgcgtt gctgctggac gctgctggcc
      721 aggtgttctc ctggggcggg ggcaggcatg gacagctggg ccatgggacc ctggaggcag
      781 agctggagcc acggctgttg gaggcgttgc agggcctagt catggctgag gtggccgcgg
      841 ggggctggca ttctgtgtgt gtgagtgaga ctggggatat ttatatctgg ggctggaatg
      901 aatcagggca gctggccctg cccaccagga acctggcaga ggatggagag actgtcgcaa
      961 gggaagccac agaactgaat gaagatggtt ctcaggtgaa gagaacgggt ggggctgagg
     1021 atggagcccc tgcccccttc atagctgtcc agcccttccc ggcattactg gatctcccca
     1081 tgggctcaga tgcagtcaag gccagctgtg gatcccggca cacagctgtg gtgacacgaa
     1141 caggggagct ctacacctgg ggctggggta aatatggaca gctgggccac gaggacacca
     1201 ccagcttgga tcggcctcgc cgtgtggaat actttgtaga taagcaactc caagtaaagg
     1261 ctgtcacctg tgggccgtgg aacacctacg tgtatgctgt ggagaaaggg aagagctgac
     1321 atgtgtacgt atatgtatat gcaacacctg tgagaccccc attcaggtca aggaaaacca
     1381 ttgcctgcac cccaagggcc ccatatttgc ccctccccat cacagtcctg cccttcaccc
     1441 tcaagcacgg tcctaaactt gtctgcactt tagaaacacc tggagagcat tgaaaactct
     1501 gctgcctaag gtcagcatca atcaaaacaa tgaaatcaat gaaacaatga aaccagagct
     1561 tctaggtgtg tggcctggat agtggtagat tcaaagctcc acccacctca tcccaggtac
     1621 atttgatgtg cagctgagat tggggcacat tccaggtcat cgtcttctgt cagtcatttc
     1681 cctgctttcg tttgaatttt accattcttg tatgcagcct tatacgacat agttgtgttt
     1741 gcttttgagt gttagataaa tggaatcctg tgtatgtgct tttgtgtcgt ttttgtcact
     1801 cagcattgta taatccatcc ttgttgggtc ctggagttca tttttaatgc tatatggtgt
     1861 tctgttgtat gaataatacc tcaagtgata cagccttgtt gatggtcatt tttattgttt
     1921 ctgattttgg tcattccaca taattctttg tgcagtcttc tgcacatgtg cacaagttcc
     1981 tttgcagaac attgagttga attgctaagt caggagatac ctttaatttt actagataac
     2041 tgttgccccc agcagggtgg ggtctactgt ggctaaaatg tcaggtagat gcacactggt
     2101 tttaattggc atttccctgg atactgatga ggttgagtag cttttcattt gttttggatg
     2161 gctgggcatg gtggctcaca cctgtagtcc cagcactttg ggaggctaag cagggagatt
     2221 gcttgaggcg aagagttcat atgtttattg gccacttgga gtttttctgt tgtcaagtgc
     2281 ctgttcaagt tttctggcct tttaaaatgt tctgtatttt ccttagtgat ttttcttttg
     2341 gatatttcag atacaagtct tttgagagtt agtattcaga gtatcttctg ctacaatgta
     2401 gtttgtttca gtctctcttg gtattaccaa ttttaatact taggtgatgc ttactccatg
     2461 ccaggtaagg ctcaaagtgc tttacaagta tcaacttatt ttgataaaat aagcttatca
     2521 gtagttttct ttatagttaa attctatttg tgcatgtgtg tgtctgtggt ttagcaaatg
     2581 tttcccaccc atggggtctt ttttattgtg gtaaaatata ctgaacataa aatttatgtt
     2641 caataaaaaa caaaaattgt ttttaaccat tttaa
//
LOCUS       NM_001017920             549 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens death associated protein like 1 (DAPL1), mRNA.
ACCESSION   NM_001017920
VERSION     NM_001017920.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 549)
  AUTHORS   Feng YY, Yang Y, Wang YY, Bai XX, Hai P and Zhao R.
  TITLE     [Hypomethylation of DAPL1 associated with prognosis of lung cancer
            patients with EGFR Del19 mutation]
  JOURNAL   Zhonghua Zhong Liu Za Zhi 43 (12), 1264-1268 (2021)
   PUBMED   34915634
  REMARK    GeneRIF: [Hypomethylation of DAPL1 associated with prognosis of lung
            cancer patients with EGFR Del19 mutation].
REFERENCE   2  (bases 1 to 549)
  AUTHORS   Lin X, Li H, Yang T, Liu X, Fan F, Zhou X and Luo Y.
  TITLE     Transcriptomics Analysis of Lens from Patients with Posterior
            Subcapsular Congenital Cataract
  JOURNAL   Genes (Basel) 12 (12), 1904 (2021)
   PUBMED   34946854
  REMARK    GeneRIF: Transcriptomics Analysis of Lens from Patients with
            Posterior Subcapsular Congenital Cataract. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 549)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 549)
  AUTHORS   Ma X, Hua J, Zheng G, Li F, Rao C, Li H, Wang J, Pan L and Hou L.
  TITLE     Regulation of cell proliferation in the retinal pigment epithelium:
            Differential regulation of the death-associated protein like-1 DAPL1
            by alternative MITF splice forms
  JOURNAL   Pigment Cell Melanoma Res 31 (3), 411-422 (2018)
   PUBMED   29171181
  REMARK    GeneRIF: human retinal pigment epithelium (RPE) cell lines that the
            pigment cell transcription factor MITF regulates RPE cell
            proliferation by upregulating DAPL1 expression.
REFERENCE   5  (bases 1 to 549)
  AUTHORS   Ma X, Li H, Wang Y, Wang J, Zheng Q, Hua J, Yang J, Pan L, Lu F, Qu
            J and Hou L.
  TITLE     DAPL1, a susceptibility locus for age-related macular degeneration,
            acts as a novel suppressor of cell proliferation in the retinal
            pigment epithelium
  JOURNAL   Hum Mol Genet 26 (9), 1612-1621 (2017)
   PUBMED   28334846
  REMARK    GeneRIF: Authors show that DAPL1 is a novel regulator of RPE cell
            proliferation that is important for the maintenance of the RPE as a
            monolayer. The findings suggest that DAPL1 dysregulation may be
            involved in abnormal RPE-related proliferative diseases and
            corresponding retinal dysfunctions in humans.
REFERENCE   6  (bases 1 to 549)
  AUTHORS   Grassmann F, Friedrich U, Fauser S, Schick T, Milenkovic A, Schulz
            HL, von Strachwitz CN, Bettecken T, Lichtner P, Meitinger T, Arend
            N, Wolf A, Haritoglou C, Rudolph G, Chakravarthy U, Silvestri G,
            McKay GJ, Freitag-Wolf S, Krawczak M, Smith RT, Merriam JC, Merriam
            JE, Allikmets R, Heid IM and Weber BH.
  TITLE     A Candidate Gene Association Study Identifies DAPL1 as a
            Female-Specific Susceptibility Locus for Age-Related Macular
            Degeneration (AMD)
  JOURNAL   Neuromolecular Med 17 (2), 111-120 (2015)
   PUBMED   25680934
  REMARK    GeneRIF: DAPL1 plays a role in epithelial differentiation and may be
            involved in apoptotic processes thereby suggesting a possible novel
            pathway in AMD pathogenesis.
REFERENCE   7  (bases 1 to 549)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   8  (bases 1 to 549)
  AUTHORS   Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanche H, Schreiber
            S and Nebel A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat Res 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 549)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Behal A, Touchman JW, Bouffard G,
            Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and splice
            variants
  JOURNAL   Mol Vis 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY324399.1, BX117859.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000309950.8/ ENSP00000309538.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY324399.1, BC127683.1, CD675155.1, AC079877.5 and AF086541.1.
            On Jun 2, 2019 this sequence version replaced NM_001017920.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..549
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.1"
     gene            1..549
                     /gene="DAPL1"
                     /note="death associated protein like 1"
                     /db_xref="GeneID:92196"
                     /db_xref="HGNC:HGNC:21490"
     CDS             57..380
                     /gene="DAPL1"
                     /note="early epithelial differentiation-associated protein"
                     /codon_start=1
                     /product="death-associated protein-like 1"
                     /protein_id="NP_001017920.2"
                     /db_xref="CCDS:CCDS33307.1"
                     /db_xref="GeneID:92196"
                     /db_xref="HGNC:HGNC:21490"
                     /translation="MANEVQDLLSPRKGGHPPAVKAGGMRISKKQEIGTLERHTKKTGF
                     EKTSAIANVAKIQTLDALNDALEKLNYKFPATVHMAHQKPTPALEKVVPLKRIYIIQQP
                     RKC"
     misc_feature    57..125
                     /gene="DAPL1"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJW8.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      522..527
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DAPL1"
                     /note="hexamer: AATAAA"
     polyA_site      549
                     /gene="DAPL1"
                     /note="major polyA site"
ORIGIN
        1 acagctggca ttcagcctcc agagcaccag cactggcact ggcactggca cacgctatgg
       61 caaatgaagt gcaagacctg ctctcccctc ggaaaggggg acatcctcct gcagtaaaag
      121 ctggaggaat gagaatttcc aaaaaacaag aaattggcac cttggaaaga cataccaaaa
      181 aaacaggatt cgagaaaaca agtgccattg caaatgttgc caaaatacag acactggatg
      241 ccctgaatga cgcactggag aagctcaact ataaatttcc agcaacagtg cacatggcgc
      301 atcaaaaacc cacacctgct ctggaaaagg ttgttccact gaaaaggatc tacattattc
      361 agcagcctcg aaaatgttaa gcctggattt aaaacacagc cgtctggcca gctgcctcga
      421 atatctgaca gcttagcaaa aagggccaaa gctttccata ggcgtgctgc acttgcttgg
      481 taaattaagc agcttttgta tcttcccctt tgactttagg taataaagca tccaaacttg
      541 taaatctga
//
LOCUS       NM_001017921            2240 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens vimentin type intermediate filament associated
            coiled-coil protein (VMAC), mRNA.
ACCESSION   NM_001017921
VERSION     NM_001017921.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2240)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2240)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (bases 1 to 2240)
  AUTHORS   Yamamoto Y, Irie K, Kurihara H, Sakai T and Takai Y.
  TITLE     Vmac: a novel protein associated with vimentin-type intermediate
            filament in podocytes of rat kidney
  JOURNAL   Biochem Biophys Res Commun 315 (4), 1120-1125 (2004)
   PUBMED   14985129
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK124162.1, BC110802.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000339485.4/ ENSP00000343348.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA541168.1, AK124162.1, AC104532.2 and BC110802.1.
            On May 17, 2019 this sequence version replaced NM_001017921.3.
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2240
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..2240
                     /gene="VMAC"
                     /note="vimentin type intermediate filament associated
                     coiled-coil protein"
                     /db_xref="GeneID:400673"
                     /db_xref="HGNC:HGNC:33803"
                     /db_xref="MIM:617204"
     CDS             20..529
                     /gene="VMAC"
                     /note="vimentin-type IF-associated coiled-coil protein"
                     /codon_start=1
                     /product="vimentin-type intermediate filament-associated
                     coiled-coil protein"
                     /protein_id="NP_001017921.1"
                     /db_xref="CCDS:CCDS32881.1"
                     /db_xref="GeneID:400673"
                     /db_xref="HGNC:HGNC:33803"
                     /db_xref="MIM:617204"
                     /translation="MSAPPALQIREANAHLAAVHRRAAELEARLDAAERTVHAQAERLA
                     LHDQQLRAALDELGRAKDREIATLQEQLMTSEATVHSLQATVHQRDELIRQLQPRAELL
                     QDICRRRPPLAGLLDALAEAERLGPLPASDPGHPPPGGPGPPLDNSTGEEADRDHLQPA
                     VFGTTV"
     misc_feature    395..526
                     /gene="VMAC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2NL98.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      543..548
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VMAC"
                     /note="hexamer: ATTACA"
     polyA_site      563
                     /gene="VMAC"
                     /note="major polyA site"
     regulatory      1228..1233
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VMAC"
                     /note="hexamer: AATATA"
     polyA_site      1248
                     /gene="VMAC"
     regulatory      1607..1612
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VMAC"
                     /note="hexamer: AATAAA"
     polyA_site      1639
                     /gene="VMAC"
                     /note="major polyA site"
ORIGIN
        1 ctgtacagca gcctgggcca tgtcggcgcc gccggccctg cagatccggg aggcaaacgc
       61 acacctggca gccgtgcacc ggcgcgcagc ggagctggag gcgcggctgg acgcggcgga
      121 gcgcacggtg cacgcccaag ccgagcgcct ggccctccac gaccagcagc tgcgcgccgc
      181 cctagacgaa ctgggtcgcg ccaaggaccg tgagattgcc acactccagg agcagctgat
      241 gacctcagaa gccactgtcc acagcctgca ggccaccgtg caccagaggg acgagctcat
      301 taggcagttg cagccccggg ctgagctgct gcaggacatc tgccgccgcc ggccacccct
      361 ggctgggctg ctggatgccc tggctgaggc tgagcgcctg gggcccctgc cggccagtga
      421 ccccggccac ccaccccccg gtgggcctgg tccacccctt gacaacagca ctggggaaga
      481 ggcggacagg gaccacctcc agcctgcagt gtttgggacc acagtgtgag cccggaatgc
      541 agattacaga atggagacag aaagccactg ctgtcagtgt ccttgggagt caccagcacc
      601 ctgcaggggg accctacggc agagccaaag tcctgtctaa gcatcagaac aggctgaaca
      661 gtcaaaaagt tttcaaatag gcccacaggc caggtgcaga cgtttaaccc agacagaagt
      721 gttcttgttt gtttttaagc tttgaatcag tcacccttgc taaaaacctg gcaatgcaaa
      781 cacaaagatc tggatttctg gcaagacttg gccaagcttg cctggagttc agggcaccct
      841 ctttagccag ggtgtgagtt tctgtttttt gttttttttt ttttaagaca gagtcccact
      901 ctgtcgccct ggctggggtg cagtggtgcg attttggcta actgcaacct ccgcctccca
      961 ggttcaagcg attctcctgt ctcatccttc agagtagctg ggattacagg cgcccaccac
     1021 cacacccgga tattttatat ttttggtaga gaccggggag gggagggggt ttcaccatgt
     1081 tgaccaggct ggtctcaaac tcctgacctt aggtgatcca cccgcctcgg ccttcgaaag
     1141 tgctgcagtt ataggtgtaa gccaccgcgc ccggccctag cctagctttt gtagcatgca
     1201 actgtctcct ttttatacgc cctaaagaat atatttttga actccttgtt tctgcgctgt
     1261 ccttcttagc ccaggacatt cagggtgctt tgcttgttgt caaaccaggg aaaggagaaa
     1321 actcctgtgc ctttctgggc cagcctgtca ccctggcctg gtcggcagcc attcccctac
     1381 ctcctcactc aggaactgtc acaccaggaa ccggcgaggg gcacagcctg tttcagacca
     1441 gaaaggtcgg aggccaccca cggccttcag gatggcgccc gcctgcctgc ctggcaacag
     1501 tgacccctca gtgcagtaac aatgggccca ttttctcctc tggatgaaca aggagggggg
     1561 ttgtttgtac aaaggaaagg caggctgggg cctgtctgtg ctcaagaata aaccggatga
     1621 tttcctggcc tgggggcaag agggaggccc tctgtgttat ttgtgcctcc tggtagggtc
     1681 ctgctgggcc aggtagaatc tagggagtgt aggccaagca ctctctacag cgattgcatc
     1741 taatcttcga gtttccctgt agacacaggc tttgtcctca ttttacagct gtggaaagtg
     1801 aggcccaggc cgggcgcggt gtctcacgcc tgtaatccca gcactttggg atgcgggtgg
     1861 atcacctgag gtcaggagtt cgagaccacc ctggccaaca tggtgaaacc ccgtctctac
     1921 taaaaatact aaaattagcc gggcttggtg gcgggtgcct gtaatcccag ctactgaacc
     1981 cgggaggcgg aggttgcagt gagtggagat tgcaccactg cactccagcc tgggagacag
     2041 agtgagactc agtctcaaag aaaacaacaa caacaacaac aacaacaaca acaacaacaa
     2101 acagaggccc agaggtgtga agggaacaca ctccgggtct ggagggccag ggccacttcc
     2161 aattctgggg gaagttattg ctgaaattct gttttctttc tttctttctt ttttttttaa
     2221 agagacaaag tctcactgtt
//
LOCUS       NM_001017922            3440 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens erythroblast membrane associated protein (Scianna blood
            group) (ERMAP), transcript variant 1, mRNA.
ACCESSION   NM_001017922
VERSION     NM_001017922.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3440)
  AUTHORS   Su M, Lin Y, Cui C, Tian X and Lai L.
  TITLE     ERMAP is a B7 family-related molecule that negatively regulates T
            cell and macrophage responses
  JOURNAL   Cell Mol Immunol 18 (8), 1920-1933 (2021)
   PUBMED   32620788
  REMARK    GeneRIF: ERMAP is a B7 family-related molecule that negatively
            regulates T cell and macrophage responses.
REFERENCE   2  (bases 1 to 3440)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3440)
  AUTHORS   Belsito A, Costa D, Fiorito C, De Iorio G, Casamassimi A, Perrotta S
            and Napoli C.
  TITLE     Erythrocyte genotyping for transfusion-dependent patients at the
            Azienda Universitaria Policlinico of Naples
  JOURNAL   Transfus Apher Sci 52 (1), 72-77 (2015)
   PUBMED   25582271
  REMARK    GeneRIF: Through molecular genotyping we also identified
            polymorphisms in RhCE, Kell, Duffy, Colton, Lutheran and Scianna
            loci in donors and patients.
REFERENCE   4  (bases 1 to 3440)
  AUTHORS   Reid ME, Hue-Roye K, Velliquette RW, Larimore K, Moscarelli S,
            Ohswaldt N and Lomas-Francis C.
  TITLE     SC*994C>T causes the Sc(null) phenotype in Pacific Islanders and
            successful transfusion of Sc3+ blood to a patient with anti-Sc3
  JOURNAL   Immunohematology 29 (2), 69-72 (2013)
   PUBMED   24094239
  REMARK    GeneRIF: the five known probands with the SC*994C>T silencing
            nucleotide change were from the Pacific Islands.
REFERENCE   5  (bases 1 to 3440)
  AUTHORS   Fuchisawa A, Lomas-Francis C, Hue-Roye K and Reid ME.
  TITLE     The polymorphism nt 76 in exon 2 of SC is more frequent in whites
            than in blacks
  JOURNAL   Immunohematology 25 (1), 18-19 (2009)
   PUBMED   19856728
  REMARK    GeneRIF: Observational study of genotype prevalence. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3440)
  AUTHORS   Wagner FF, Poole J and Flegel WA.
  TITLE     Scianna antigens including Rd are expressed by ERMAP
  JOURNAL   Blood 101 (2), 752-757 (2003)
   PUBMED   12393480
  REMARK    GeneRIF: DNA sequencing demonstrates Scianna antigens including Rd
            are expressed by ERMAP.
REFERENCE   7  (bases 1 to 3440)
  AUTHORS   Su YY, Gordon CT, Ye TZ, Perkins AC and Chui DH.
  TITLE     Human ERMAP: an erythroid adhesion/receptor transmembrane protein
  JOURNAL   Blood Cells Mol Dis 27 (5), 938-949 (2001)
   PUBMED   11783959
  REMARK    GeneRIF: A human cDNA and gene encoding for human ERMAP is cloned
            and characterized. The protein is sequenced and its expression
            analyzed.
REFERENCE   8  (bases 1 to 3440)
  AUTHORS   Xu H, Foltz L, Sha Y, Madlansacay MR, Cain C, Lindemann G, Vargas J,
            Nagy D, Harriman B, Mahoney W and Schueler PA.
  TITLE     Cloning and characterization of human erythroid membrane-associated
            protein, human ERMAP
  JOURNAL   Genomics 76 (1-3), 2-4 (2001)
   PUBMED   11549310
  REMARK    GeneRIF: ERMAP, a unique member of the B30.2 domain protein family,
            is expressed in erythroid cells in fetal liver, adult bone marrow,
            reticulocytes and in circulating erythroblasts in 8-12-week fetal
            cord blood.
REFERENCE   9  (bases 1 to 3440)
  AUTHORS   Lewis,M., Kaita,H., Philipps,S., Giblett,E.R., Anderson,J.E.,
            McAlpine,P.J. and Nickel,B.
  TITLE     The position of the Radin blood group locus in relation to other
            chromosome l loci
  JOURNAL   Ann Hum Genet 44 (2), 179-184 (1980)
   PUBMED   6459052
REFERENCE   10  (bases 1 to 3440)
  AUTHORS   Lewis,M. and Kaita,H.
  TITLE     Genetic linkage between the Radin and Rh blood group loci
  JOURNAL   Vox Sang 37 (5), 286-289 (1979)
   PUBMED   118583
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK314436.1, SRR1803616.246050.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000372517.8/ ENSP00000361595.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX507568.1, AY049028.1,
            AL512353.16 and AF311285.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001017922.1.
            Summary: The protein encoded by this gene is a cell surface
            transmembrane protein that may act as an erythroid cell receptor,
            possibly as a mediator of cell adhesion. Polymorphisms in this gene
            are responsible for the Scianna/Radin blood group system. Two
            transcript variants encoding the same protein have been found for
            this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) is the longer transcript.
            Variants 1 and 2 encode the same protein.
            Sequence Note: This RefSeq record represents the ERMAP*001.1.1
            allele.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3440
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..3440
                     /gene="ERMAP"
                     /gene_synonym="BTN5; PRO2801; RD; SC"
                     /note="erythroblast membrane associated protein (Scianna
                     blood group)"
                     /db_xref="GeneID:114625"
                     /db_xref="HGNC:HGNC:15743"
                     /db_xref="MIM:609017"
     misc_feature    140..142
                     /gene="ERMAP"
                     /gene_synonym="BTN5; PRO2801; RD; SC"
                     /note="upstream in-frame stop codon"
     CDS             254..1681
                     /gene="ERMAP"
                     /gene_synonym="BTN5; PRO2801; RD; SC"
                     /note="erythroid membrane-associated protein; Radin blood
                     group (Rd); Scianna blood group (Sc); radin blood group
                     antigen; scianna blood group antigen"
                     /codon_start=1
                     /product="erythroid membrane-associated protein precursor"
                     /protein_id="NP_001017922.1"
                     /db_xref="CCDS:CCDS475.1"
                     /db_xref="GeneID:114625"
                     /db_xref="HGNC:HGNC:15743"
                     /db_xref="MIM:609017"
                     /translation="MEMASSAGSWLSGCLIPLVFLRLSVHVSGHAGDAGKFHVALLGGT
                     AELLCPLSLWPGTVPKEVRWLRSPFPQRSQAVHIFRDGKDQDEDLMPEYKGRTVLVRDA
                     QEGSVTLQILDVRLEDQGSYRCLIQVGNLSKEDTVILQVAAPSVGSLSPSAVALAVILP
                     VLVLLIMVCLCLIWKQRRAKEKLLYEHVTEVDNLLSDHAKEKGKLHKAVKKLRSELKLK
                     RAAANSGWRRARLHFVAVTLDPDTAHPKLILSEDQRCVRLGDRRQPVPDNPQRFDFVVS
                     ILGSEYFTTGCHYWEVYVGDKTKWILGVCSESVSRKGKVTASPANGHWLLRQSRGNEYE
                     ALTSPQTSFRLKEPPRCVGIFLDYEAGVISFYNVTNKSHIFTFTHNFSGPLRPFFEPCL
                     HDGGKNTAPLVICSELHKSEESIVPRPEGKGHANGDVSLKVNSSLLPPKAPELKDIILS
                     LPPDLGPALQELKAPSF"
     sig_peptide     254..340
                     /gene="ERMAP"
                     /gene_synonym="BTN5; PRO2801; RD; SC"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     341..1678
                     /gene="ERMAP"
                     /gene_synonym="BTN5; PRO2801; RD; SC"
                     /product="erythroid membrane-associated protein"
     misc_feature    647..649
                     /gene="ERMAP"
                     /gene_synonym="BTN5; PRO2801; RD; SC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96PL5.1); glycosylation site"
     misc_feature    719..781
                     /gene="ERMAP"
                     /gene_synonym="BTN5; PRO2801; RD; SC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96PL5.1);
                     transmembrane region"
     misc_feature    1505..1507
                     /gene="ERMAP"
                     /gene_synonym="BTN5; PRO2801; RD; SC"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JLN5; propagated from
                     UniProtKB/Swiss-Prot (Q96PL5.1); phosphorylation site"
     regulatory      3414..3419
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERMAP"
                     /gene_synonym="BTN5; PRO2801; RD; SC"
                     /note="hexamer: AATAAA"
     polyA_site      3440
                     /gene="ERMAP"
                     /gene_synonym="BTN5; PRO2801; RD; SC"
                     /note="major polyA site"
ORIGIN
        1 ctcttccctc tcctggagga aaatggcggt cgctggagcc gccgaccaag aggcttggga
       61 gtctgtacct ttcccgaccg ggccactgga agttggagcc tccgccgagt cgcagacaac
      121 gcctccggga gggccttcct gatgcgcttg cctgctccct ggtctctctg catggggaag
      181 gagtgttccc agcttgcaaa ctccagcttt gcctgtgaga ggaacaagcg tccctgatcc
      241 agaaggtgtt cggatggaga tggcgagttc tgctggctcc tggctctctg gctgcctcat
      301 ccctctcgtc ttcctccggc tgtctgtgca tgtgtcaggc cacgcagggg atgccggcaa
      361 gttccacgtg gccctactag ggggcacagc cgagctgctc tgccctctct ccctctggcc
      421 cgggacggta cccaaggagg tgaggtggct gcggtcccca ttcccgcagc gctcccaggc
      481 tgttcacata ttccgggatg ggaaggacca ggatgaagat ctgatgccgg aatataaggg
      541 gaggacggtg ctagtgagag atgcccaaga gggaagtgtc actctgcaga tccttgacgt
      601 gcgccttgag gaccaagggt cttaccgatg tctgatccaa gttggaaatc tgagtaaaga
      661 ggacaccgtg atcctgcagg ttgcagcccc atctgtgggg agtctctccc cctcagcagt
      721 ggctctggct gtgatcctgc ctgtcctggt acttctcatc atggtgtgcc tttgccttat
      781 ctggaagcaa agaagagcaa aagaaaagct tctctatgaa catgtgacgg aggtggacaa
      841 tcttctttca gaccatgcta aagaaaaagg aaaactccat aaagctgtca agaaactccg
      901 gagtgaactg aagttgaaaa gagctgcagc aaactcaggc tggagaagag cccggttgca
      961 ttttgtggca gtgaccctgg acccagacac agcacatccc aaactcatcc tttctgagga
     1021 ccaaagatgt gtaaggcttg gagacagacg gcagcctgta cctgacaacc cccagagatt
     1081 tgatttcgtt gtcagcatcc taggctctga gtacttcacg actggctgcc actactggga
     1141 ggtgtatgtg ggagacaaga ccaaatggat tcttggagta tgtagtgagt cagtgagcag
     1201 gaaggggaag gttactgcct cacctgccaa tggacactgg cttctgcgac agagtcgtgg
     1261 gaatgagtat gaagctctca catccccgca gacctccttc cgccttaaag agcctccacg
     1321 gtgtgtgggg attttcctgg actatgaagc aggagtcatc tctttctaca atgtgaccaa
     1381 caagtcccac atctttactt tcacccacaa tttctctggc ccccttcgcc ctttctttga
     1441 accttgcctt catgatggag gaaaaaacac agcacctcta gtcatttgtt cagaactaca
     1501 caaatcagag gaatcaattg tccccaggcc agaagggaaa ggccatgcta atggagatgt
     1561 gtccctcaag gtgaactctt ctttactacc cccgaaggcc ccagagctga aggatataat
     1621 cctgtccttg ccccctgacc ttggcccagc ccttcaggag ctcaaggctc cttcttttta
     1681 gggatatgcc acattacctg ctcccatcac catccagccc agcaccctgg acttcagtcg
     1741 cctggcccaa ccccatgatt atggaacgtc tcttcacctt aacccaaatc cagacccttt
     1801 tgtggtttct atttgtacca cttttctccc aggcctcagt tctgaagctt acctttcttc
     1861 taaggaattg aagctcccag tgacctggag ggaggattcc tggaaaccaa acaatcagtt
     1921 taggtgcagg tggagatgtt gaatatgtgt taccaagata cagcacaggt tcagggaaaa
     1981 gagttcgcta ctccaggggt tatttagaag acactttctc tgcctcatcc tgccctcaag
     2041 ctttagtcaa gaagttatgg cccccagtcc ctgacttctt acttatccca ttgaggactg
     2101 cctttctctc tctcagttct ggcctctgcc ccccaaagtc agctctctaa aagcaagcat
     2161 gttttagacc actcactctt tccctctttc ttcaggaatg aattgggaaa ggctgatgag
     2221 taaaacatac catccttttc tattttcttg atgctgttta caacatagtt tggtgatatc
     2281 cagagctaat gtacatgctt tcaaaagcta atctgcctgt tgatggtaac taggtacagc
     2341 gactttaaat acagttgcta taatcctgaa aagccccagg agcacatcag ggagctggga
     2401 aacacagttg cagagaactc agctgtatgt tgccctctga ccttggccca gaccttcaga
     2461 ggctcagtct gttgagtctg ttgtgactgt cttatgaatc aatctgttgt gccaaccctt
     2521 tctgagattc agagaggtcc agctagaaaa agtggcagtt ttaaccacca acgtagaagc
     2581 ttttttttcc ccacaagacc attgtactgc aatacttgag tatttgtgta gcaaacagcc
     2641 tcttaggttg gagagtattg atttcaaata ggaagttggt agactaggtg tgaggatgaa
     2701 ataatgacct tgatttttgg gtgtgtattg cagaagcctc gtcgctttca agtcacatca
     2761 tatatgcgat ctggcctaac catggagata ttggttatca gtttgcagat gaatacacag
     2821 ttctatccaa cagaaactgt atctttctgt ttgtcagaag ttctccgtta gttcctgtat
     2881 tagtcaaggt tttccagaga aacagaatca atatatattg gggcaggggg gcggtggtta
     2941 ttataaggaa ttggctcacg tgattatgga ggcggttaaa tcccaagatc tgcaggataa
     3001 gtcagcaaga tggagtccca tgagagctga tggtttagtt ccagtctgat ggcagcaggc
     3061 ttgacgccaa ggaagagatg atgtttaatt caagtccgaa ggcaaggaaa aagctgatgg
     3121 tcctgtccaa aggctattag gcaggaagaa ttctcttagg gcagagttag ctcttttgtt
     3181 ctattcaggc cttcaactga ttcagcaagg cccgcccaca tttgggagga cagtctgcat
     3241 tactcagtct actgatttga atgttaatgt cattgagaaa caccctcaca ggaacactca
     3301 gaataatgtt tgaccaaata gctgggcatc ttgtgaccca gttaagtgga tacataagat
     3361 taactatcac agtgactcag tggaattttt tgtttgcttt tgtacagttt taaaataaaa
     3421 gtttggtatt tgtgttttgg
//
LOCUS       NM_001017923            2935 bp    mRNA    linear   PRI 16-FEB-2021
DEFINITION  Homo sapiens chromosome 14 open reading frame 28 (C14orf28), mRNA.
ACCESSION   NM_001017923
VERSION     NM_001017923.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2935)
  AUTHORS   Yang X, Hu Y, Liu Y, Liu W, Zhao X, Liu M and Tang H.
  TITLE     C14orf28 downregulated by miR-519d contributes to oncogenicity and
            regulates apoptosis and EMT in colorectal cancer
  JOURNAL   Mol Cell Biochem 434 (1-2), 197-208 (2017)
   PUBMED   28455792
REFERENCE   2  (bases 1 to 2935)
  AUTHORS   Zhan L, Kerr JR, Lafuente MJ, Maclean A, Chibalina MV, Liu B, Burke
            B, Bevan S and Nasir J.
  TITLE     Altered expression and coregulation of dopamine signalling genes in
            schizophrenia and bipolar disorder
  JOURNAL   Neuropathol Appl Neurobiol 37 (2), 206-219 (2011)
   PUBMED   20874815
  REMARK    GeneRIF: our data suggest: (i) C14ORF28, GNB2L1, MLLT3, DRD2 and
            DARPP-32 are important in the pathogenesis of schizophrenia and
            bipolar disorder
REFERENCE   3  (bases 1 to 2935)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.190362.1,
            SRR1660807.250020.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000325192.8/ ENSP00000326846.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL049870.3, BM849739.1 and BU624091.1.
            On Nov 22, 2018 this sequence version replaced NM_001017923.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2935
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q21.2"
     gene            1..2935
                     /gene="C14orf28"
                     /gene_synonym="c14_5270; DRIP-1; DRIP1"
                     /note="chromosome 14 open reading frame 28"
                     /db_xref="GeneID:122525"
                     /db_xref="HGNC:HGNC:19834"
     misc_feature    236..238
                     /gene="C14orf28"
                     /gene_synonym="c14_5270; DRIP-1; DRIP1"
                     /note="upstream in-frame stop codon"
     CDS             296..1228
                     /gene="C14orf28"
                     /gene_synonym="c14_5270; DRIP-1; DRIP1"
                     /note="dopamine receptor interacting protein 1"
                     /codon_start=1
                     /product="uncharacterized protein C14orf28"
                     /protein_id="NP_001017923.1"
                     /db_xref="CCDS:CCDS32069.1"
                     /db_xref="GeneID:122525"
                     /db_xref="HGNC:HGNC:19834"
                     /translation="MKTLFEEIKASIKNNYNQDRSFCRPVLPWGGVFTIKAGRKAVSCT
                     PLYVEIRLKNTCTIDGFLMLLYVILNENENFPRELSLHFGREFVDCFLYLMDTYSFTTV
                     KLLWIWDKMEKQQYKSEVHKASLIIDLFGNEHDNFTKNLENLMSTIQESYCSNWRCPTR
                     VQEDQQRTININPPQEIPHGNLIRLAVNELFCSKIELCEEHGCGGLREFSQRIFCHGAP
                     PFVVLNMQHWKSEDLAYVPYYLDLSDHKYLLEGATLFNKEEHHYSAAFQIGGHWMHYDG
                     LRNVNLILLNKPPEFLLLSSLVYIRATEK"
     regulatory      1228..1233
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C14orf28"
                     /gene_synonym="c14_5270; DRIP-1; DRIP1"
                     /note="hexamer: AATATA"
     polyA_site      1247
                     /gene="C14orf28"
                     /gene_synonym="c14_5270; DRIP-1; DRIP1"
                     /note="major polyA site"
     regulatory      1462..1467
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C14orf28"
                     /gene_synonym="c14_5270; DRIP-1; DRIP1"
                     /note="hexamer: AATAAA"
     polyA_site      1481
                     /gene="C14orf28"
                     /gene_synonym="c14_5270; DRIP-1; DRIP1"
                     /note="major polyA site"
     regulatory      2901..2906
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C14orf28"
                     /gene_synonym="c14_5270; DRIP-1; DRIP1"
                     /note="hexamer: AATAAA"
     polyA_site      2935
                     /gene="C14orf28"
                     /gene_synonym="c14_5270; DRIP-1; DRIP1"
ORIGIN
        1 ggaggtcgtg ccgaatcttc ctccgtaata agaagcgacg tgtcccactg tcctggctcc
       61 gtgggtccag tgagattggg cctgggcgct ggagctgctg tggctcccgc cgcggcggct
      121 gccatggagg ccatgccaga gcccagaact cacgccgggg gaggccgaga cagccggcgg
      181 tactcataga tgaggcagcg gcggcggcgg cggcggcggc agcccgggct ctccatgagc
      241 aggcggcggc ggcgacgggt gcggcggcac cggcagtttt cggtccccag ggaggatgaa
      301 gacactgttt gaagagatca aagcatcaat taaaaataac tataaccaag atcgatcatt
      361 ttgtaggcct gttcttcctt gggggggtgt ttttactatc aaagctggcc gcaaagcagt
      421 atcctgtaca ccactctatg ttgaaataag actgaaaaat acctgcacca tagatggatt
      481 cttgatgtta ttatatgtca ttcttaatga aaatgaaaac ttccctaggg aactctctct
      541 tcattttggt agagagtttg tagactgttt tctttactta atggacacct acagttttac
      601 aactgtgaag ctactttgga tttgggacaa gatggaaaaa cagcaataca aatctgaagt
      661 ccataaagct tcattaataa ttgatttgtt tgggaatgag catgataatt ttacaaaaaa
      721 tcttgaaaat ctcatgtcta ccattcaaga gagttactgt tccaactggc gatgcccaac
      781 tcgagtgcag gaggatcagc agcgcacaat taatataaat cctccccaag aaattccaca
      841 tggaaacttg ataagactgg ctgtgaatga gttattctgt tccaagattg aactgtgtga
      901 agagcatggg tgtggtggct taagagaatt ttcccaacga attttctgcc atggggcacc
      961 cccttttgtt gtcttaaata tgcaacattg gaaatctgaa gatctggcgt atgtacccta
     1021 ttacttggat ttgtctgatc acaagtattt gttggaaggt gccacattat ttaacaaaga
     1081 ggaacatcat tattctgcag ctttccagat tggtggacat tggatgcact atgatgggct
     1141 cagaaatgtg aatttaattt tgttaaataa acccccagag tttctcctct tgtcatcatt
     1201 ggtttatatt cgagcaacag agaaataaat atagattgat gctaaaagtt gttttccctc
     1261 ctgcccatgc tctcccagat gaagggcttt tattttgtgt atacttggta tccaagaaaa
     1321 tagttcaact atactagttt cagaagtgta ttttcagtgt ttaaccccag gtaaatgttt
     1381 tatatagagg atctgtgcaa aaatgtttgt aattttttta tatttcctga gttattttta
     1441 tatgagcata ttttatgttg gaataaaata tatcttgtgg cctttgtatt ttttatttat
     1501 atgtacctca aagattttta caattctgtc tttgaattca agaaatactt tgtcatctga
     1561 attctaaatt tttctttttg gatattcgag taaaacctag gtaaaagtat tttaagttta
     1621 tataatttaa cagttcaaaa tatatctgac tgtatttctt tgccctacct cactataatc
     1681 caaagtgcac tatttgatct agtatggatt tgaatgtaca atttatcgat ggcttagttt
     1741 attagttcga tttgcctagt atccctgcag caatttttta aaatgtctga gaaatttttc
     1801 agagcttaaa ctatttcttt ataatggcaa attactttta actacttcct aaagtattat
     1861 aaacctgcca gtggatttta agtgatagct aagcttccaa gcttaattca cgttattaca
     1921 aataaattat ataactatct taaatgttta tcttataatt aaatgtaatt tgaaatgctc
     1981 taatgtattt tgcagataaa acaactataa acaatattag gcaactggat gtttactagt
     2041 gtcggactag caatagaaat gcactttaaa tatatattta aggggaaatg cgtgcctgga
     2101 aatacttctt ttcctagtga agttttatat tgacacagag aaaagaatac ttaaaatttt
     2161 gagtgatgtc tactggcttc cttgtaagta gtgattgata gcatgcggct ttgacttgca
     2221 atacaaatca ttacgatttt atagttatca gaacattacg tttctttata aagaccctaa
     2281 ggtcactctt ctttttgcaa cttaagggaa aaaatattct caagggaaaa tactttttga
     2341 aatttatcac cattttagtg tttacatttc aataaatagt tcacttcagg tttgggattg
     2401 agattagttg caatatattt agaagctcct acatgacagc acagatcact gccatctgct
     2461 gaactgctaa agtgcttggt gccatgttga gaaaacttac ccaagaatgg ataaatatgg
     2521 gtgaaacatt actgagaatg cctcacgtta gcaaatacta tgaaaattct tgtttatata
     2581 tcaaactgat ttattttaca aaaaaaaaaa attcacccca agatttattt agtttcccaa
     2641 gtgtatctga ttaggattta atttagagta aacttttctg gggacacctg attgcatgaa
     2701 ctgaagtata caataacaca aatattacag taaacataaa tggtgtcatt aacaaaatta
     2761 ttcctaatgc agatttattc tttcaggaaa tgcactttat ttggaatact agtttatcat
     2821 gaaacaatga cttacctacc tcacagggtt gttgtgagga ttaagatgtt tgttaaaatc
     2881 ttgactacct tgaacatgct aataaaaaaa catttttcta cctcttttat ttgca
//
LOCUS       NM_001017924            3026 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens leucine rich repeat, Ig-like and transmembrane domains
            2 (LRIT2), transcript variant 2, mRNA.
ACCESSION   NM_001017924
VERSION     NM_001017924.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3026)
  AUTHORS   Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H,
            Hibberd ML and Seielstad M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX648524.1 [ECO:0000332]
            RNAseq introns :: partial sample support SAMEA2148093 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000372113.7/ ENSP00000361185.3
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC140765.1 and BX648524.1.
            On Jul 10, 2019 this sequence version replaced NM_001017924.4.
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 3' coding region, compared to variant 1. This results
            in a shorter protein (isoform 2), compared to isoform 1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3026
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.1"
     gene            1..3026
                     /gene="LRIT2"
                     /gene_synonym="LRRC22"
                     /note="leucine rich repeat, Ig-like and transmembrane
                     domains 2"
                     /db_xref="GeneID:340745"
                     /db_xref="HGNC:HGNC:23443"
     CDS             25..1677
                     /gene="LRIT2"
                     /gene_synonym="LRRC22"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; leucine rich repeat containing 22; leucine-rich repeat,
                     immunoglobulin-like and transmembrane domains 2;
                     leucine-rich repeat, immunoglobulin-like domain and
                     transmembrane domain-containing protein 2; leucine-rich
                     repeat-containing protein 22"
                     /codon_start=1
                     /product="leucine-rich repeat, immunoglobulin-like domain
                     and transmembrane domain-containing protein 2 isoform 2
                     precursor"
                     /protein_id="NP_001017924.1"
                     /db_xref="CCDS:CCDS31234.1"
                     /db_xref="GeneID:340745"
                     /db_xref="HGNC:HGNC:23443"
                     /translation="MASVFHYFLLVLVFLDTHAAQPFCLPGCTCSEESFGRTLQCTSVS
                     LGKIPGNLSEEFKQVRIENSPLFEMPQGSFINMSTLEYLWLNFNNISVIHLGALEHLPE
                     LRELRLEGNKLCSVPWTAFRATPLLRVLDLKRNKIDALPELALQFLVSLTYLDLSSNRL
                     TVVSKSVFLNWPAYQKCRQPDCGAEILSSLVVALHDNPWVCDCRLRGLVQFVKSITLPV
                     ILVNSYLICQGPLSKAGQLFHETELSACMKPQISTPSANITIRAGQNVTLRCLAQASPS
                     PSIAWTYPLSMWREFDVLTSSTGEDTALSELAIPAAHLVDSGNYTCMASNSIGKSNLVI
                     SLHVQPAQALHAPDSLSIPSEGNAYIDLRVVKQTVHGILLEWLAVADTSKEEWFTLYIA
                     SDEAFRKEVVHIGPGINTYAVDDLLPGTKYEACLSLEGQPPHQGQCVAFVTGRDAGGLE
                     AREHLLHVTVVLCVVLLAVPVGAYAWAAQGPCSCSKWVLRGCLHRRKAPSCTPAAPQSK
                     DGSFREHPAVCDDGEGHIDTEGDKEKGGTEDNS"
     sig_peptide     25..84
                     /gene="LRIT2"
                     /gene_synonym="LRRC22"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    178..180
                     /gene="LRIT2"
                     /gene_synonym="LRRC22"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A6NDA9.1); glycosylation site"
     misc_feature    262..333
                     /gene="LRIT2"
                     /gene_synonym="LRRC22"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDA9.1);
                     Region: LRR 1"
     misc_feature    334..399
                     /gene="LRIT2"
                     /gene_synonym="LRRC22"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDA9.1);
                     Region: LRR 2"
     misc_feature    406..471
                     /gene="LRIT2"
                     /gene_synonym="LRRC22"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDA9.1);
                     Region: LRR 3"
     misc_feature    478..543
                     /gene="LRIT2"
                     /gene_synonym="LRRC22"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDA9.1);
                     Region: LRR 4"
     misc_feature    1420..1482
                     /gene="LRIT2"
                     /gene_synonym="LRRC22"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDA9.1);
                     transmembrane region"
     misc_feature    1546..1674
                     /gene="LRIT2"
                     /gene_synonym="LRRC22"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NDA9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 caacgtattt tcttacagag aaatatggct tcagtttttc attacttcct gttagttctg
       61 gtctttctgg atacacacgc agctcagcct ttctgtctgc caggatgcac ttgctcagag
      121 gagagttttg gcaggactct gcagtgcaca tctgtctcct tgggaaagat ccctgggaac
      181 ctttctgaag agttcaagca agtgagaatt gaaaattcac ccttatttga gatgccccaa
      241 gggtctttca tcaacatgag caccttggaa tacctctggc tcaattttaa caatatcagt
      301 gtgatccacc taggagccct ggaacacctg ccagaactga gggagctgag actggagggg
      361 aacaagctct gctcagtacc atggacagcg ttccgtgcca cccctctcct gagggtcttg
      421 gatctcaaac gcaacaagat tgatgcactc cctgagctgg ctcttcaatt cttggtcagc
      481 ctgacctacc ttgacctatc ctccaatagg cttacagttg tatccaagag tgtcttcctg
      541 aactggccag cctaccagaa atgccggcag cctgactgtg gggctgagat tctctccagc
      601 ctggtggtgg ccctgcatga caacccctgg gtatgtgact gtcgcctaag ggggcttgtc
      661 cagtttgtca agtccattac cctcccagtc atcctggtga attcctacct gatatgtcag
      721 ggccctctgt ccaaggcagg gcagcttttt catgaaactg agcttagtgc ttgcatgaag
      781 ccacagatct caacccccag tgccaatatc accatccggg caggacagaa tgtgaccctg
      841 cgatgcttgg cacaggccag cccctcacca tccattgcat ggacttatcc cctgagtatg
      901 tggagagaat ttgatgtgtt gacatcttct actggagaag acactgctct gtcagagctg
      961 gccatacctg ctgcccacct ggtagacagt ggtaattaca cctgcatggc ctccaactcc
     1021 attggcaaga gcaaccttgt aatctctctc catgtccagc ctgcccaggc cctacatgca
     1081 cctgattctc tttccatccc ctcggagggc aatgcctaca ttgacctgcg ggttgtcaag
     1141 cagacagtgc atgggatttt gctggagtgg cttgcagtgg ctgacacctc taaggaggag
     1201 tggttcaccc tctacattgc atcggatgaa gccttcagga aggaggtggt tcacattggc
     1261 cccggaatca atacttatgc tgtggatgac ctccttcctg gcacaaaata tgaggcctgc
     1321 ctcagcctag agggccagcc tccacaccag ggccagtgtg tagcttttgt aacaggcaga
     1381 gatgctggtg ggctagaggc acgtgagcac ctcctgcatg tcacagtggt cctgtgtgtg
     1441 gtgctgcttg cagtgcctgt gggcgcctat gcctgggcag cccagggccc ctgcagctgc
     1501 agcaagtggg tcctgcgcgg ctgtcttcat cgcaggaaag cccccagctg cacccctgca
     1561 gccccgcagt ccaaggatgg ctcctttaga gaacatccag ctgtctgtga tgacggtgaa
     1621 gggcacatag acactgaggg ggacaaggag aaaggaggaa cggaagacaa cagctgaaca
     1681 acccaggcca tggggtggaa acggcttggg cttcaagcct ctgaaaccaa ccctctgcag
     1741 cagctccatc catttatcca gcaagtatat attgagcacc cactgtgttc caagcactga
     1801 acttgacaca gggggttcaa gagtaaaaag ggaaacagag tctttatctt catgataaag
     1861 gggacatagt cattatcttc gtaaagttaa agtcaatgaa gatttgtcca tcaaattaat
     1921 cattttatta tacatggtga ttagaaatca ctaaatatta ctctttgcat atacttagcc
     1981 tataacattt acatgcttat acgtaatgtc tacgtataat attttacata tattatcctg
     2041 taaacgaagg tagacttcta cccacttttt ataggtgaaa aactgcagcc tggacagttc
     2101 aatgatacac ccagagtcca catctggcag gaggcagaag ccccattcaa aagaggttcc
     2161 agttccatcg tttccttgaa tgcctgtttt gcggtattct tgtgtctttc attgtttata
     2221 aagtgtgacc ctctctcttc atgacaaact cctaatgaga tcacataaat gtgatgttcc
     2281 aaagagctgc ccatcagggt gatgagagct gttgggtaat gtgagtctct ttttgtaggt
     2341 gtctgttccc ctgtgagcac agcccttggt gctgctgggc aggctggagc catcagcacc
     2401 aaggaagagt aggggattgg ctgcagccct gggtctggca gagagcagac tctgcagggc
     2461 catacccaga aggaagagca cccatacgtc cgctgctttc ccctagtcaa tgtctaaagc
     2521 cctcctatga aatccatgag aggtggtcat ttcctcttag ccggacccat gtggaatgga
     2581 ggggccccaa gaatcccaac atcagctcat catcccactg aacagccctt ctaggggaga
     2641 ccattcccag gatttaattc acatctgtct ccctgccgtt tccctcactg gccacatgca
     2701 aacctttcta agagtgtaaa catgaactag actcattgtg acatctccac acgtttcctc
     2761 cttcccacct tttttaccca ttcctaatca tccttttagg cctctctcaa gtgtgtacat
     2821 tacgtcttcc acagagcttt ccttgacttc acacctctgg ggaaaaggac agtatgcaca
     2881 ttgtgtccat tggttgtgag acatttgcag gcaaagactg accttcctca cggtggccac
     2941 tgcactcgtc taatacctgg attgtgttca taatcaatgt tagttaacaa taaattttaa
     3001 aaaattgaag atggctctca ttttca
//
LOCUS       NM_001017928             720 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens mitochondrial matrix import factor 23 (MIX23),
            transcript variant 1, mRNA.
ACCESSION   NM_001017928
VERSION     NM_001017928.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 720)
  AUTHORS   Zoller E, Laborenz J, Kramer L, Boos F, Raschle M, Alexander RT and
            Herrmann JM.
  TITLE     The intermembrane space protein Mix23 is a novel stress-induced
            mitochondrial import factor
  JOURNAL   J Biol Chem 295 (43), 14686-14697 (2020)
   PUBMED   32826315
REFERENCE   2  (bases 1 to 720)
  AUTHORS   O'Seaghdha CM, Yang Q, Glazer NL, Leak TS, Dehghan A, Smith AV, Kao
            WH, Lohman K, Hwang SJ, Johnson AD, Hofman A, Uitterlinden AG, Chen
            YD, Brown EM, Siscovick DS, Harris TB, Psaty BM, Coresh J, Gudnason
            V, Witteman JC, Liu YM, Kestenbaum BR, Fox CS and Kottgen A.
  CONSRTM   GEFOS Consortium
  TITLE     Common variants in the calcium-sensing receptor gene are associated
            with total serum calcium levels
  JOURNAL   Hum Mol Genet 19 (21), 4296-4303 (2010)
   PUBMED   20705733
REFERENCE   3  (bases 1 to 720)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer
            JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
REFERENCE   4  (bases 1 to 720)
  AUTHORS   Kestenbaum B, Glazer NL, Kottgen A, Felix JF, Hwang SJ, Liu Y,
            Lohman K, Kritchevsky SB, Hausman DB, Petersen AK, Gieger C, Ried
            JS, Meitinger T, Strom TM, Wichmann HE, Campbell H, Hayward C, Rudan
            I, de Boer IH, Psaty BM, Rice KM, Chen YD, Li M, Arking DE,
            Boerwinkle E, Coresh J, Yang Q, Levy D, van Rooij FJ, Dehghan A,
            Rivadeneira F, Uitterlinden AG, Hofman A, van Duijn CM, Shlipak MG,
            Kao WH, Witteman JC, Siscovick DS and Fox CS.
  TITLE     Common genetic variants associate with serum phosphorus
            concentration
  JOURNAL   J Am Soc Nephrol 21 (7), 1223-1232 (2010)
   PUBMED   20558539
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC109378.1, BU533446.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000291458.9/ ENSP00000291458.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CD683826.1, BC109378.1 and AC083798.14.
            On May 17, 2019 this sequence version replaced NM_001017928.3.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..720
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.1"
     gene            1..720
                     /gene="MIX23"
                     /gene_synonym="CCDC58"
                     /note="mitochondrial matrix import factor 23"
                     /db_xref="GeneID:131076"
                     /db_xref="HGNC:HGNC:31136"
     CDS             8..442
                     /gene="MIX23"
                     /gene_synonym="CCDC58"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 58; coiled-coil
                     domain containing 58; protein MIX23"
                     /codon_start=1
                     /product="protein MIX23 isoform 1"
                     /protein_id="NP_001017928.1"
                     /db_xref="CCDS:CCDS33838.1"
                     /db_xref="GeneID:131076"
                     /db_xref="HGNC:HGNC:31136"
                     /translation="MAAPSGGVNCEEFAEFQELLKVMRTIDDRIVHELNTTVPTASFAG
                     KIDASQTCKQLYESLMAAHASRDRVIKNCIAQTSAVVKNLREEREKNLDDLTLLKQLRK
                     EQTKLKWMQSELNVEEVVNDRSWKVFNERCRIHFKPPKNE"
     misc_feature    11..13
                     /gene="MIX23"
                     /gene_synonym="CCDC58"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (Q4VC31.1); acetylation site"
     misc_feature    305..307
                     /gene="MIX23"
                     /gene_synonym="CCDC58"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q4VC31.1); acetylation site"
     regulatory      694..699
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MIX23"
                     /gene_synonym="CCDC58"
                     /note="hexamer: ATTAAA"
     polyA_site      720
                     /gene="MIX23"
                     /gene_synonym="CCDC58"
                     /note="major polyA site"
ORIGIN
        1 gtccaatatg gcggcgccca gtggcggtgt gaactgtgag gagttcgccg agttccagga
       61 attactcaag gtgatgagga caattgatga cagaatagta catgaattaa acactacggt
      121 tccaacagct tcctttgcag ggaaaattga tgccagccaa acctgtaaac aactttatga
      181 gtctttgatg gcagctcatg ccagtagaga cagagtcata aaaaactgta tagcccagac
      241 ttcagcagta gtaaaaaacc tccgagaaga gagagaaaag aatttggacg atttaacgtt
      301 attaaaacaa cttagaaaag agcagacaaa gttgaaatgg atgcagtcag aactgaatgt
      361 tgaagaagtg gtaaatgaca ggagctggaa ggtgtttaat gaacgctgcc gaattcactt
      421 caagcctcca aagaatgaat aaagagagat tctttttttt tttttttttt tttttttttt
      481 aaggactggg tcatctcata agagctaagc atgacagata tcaacagggc gggctttcta
      541 ggatgatttc tgagccaaca gtccaagacc ttttgttgat ttcagcccca cttagccaag
      601 acctcaagta taaataattc tgataattat ggagaaatca actgctattt tatactgatt
      661 ctgtaaaaaa aaaaaaaaaa aatttttgta actattaaaa taattttctg actcagtgta
//
LOCUS       NM_001017930            3458 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens DDB1 and CUL4 associated factor 8 like 1 (DCAF8L1),
            mRNA.
ACCESSION   NM_001017930
VERSION     NM_001017930.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3458)
  AUTHORS   Kerns SL, Ostrer H, Stock R, Li W, Moore J, Pearlman A, Campbell C,
            Shao Y, Stone N, Kusnetz L and Rosenstein BS.
  TITLE     Genome-wide association study to identify single nucleotide
            polymorphisms (SNPs) associated with the development of erectile
            dysfunction in African-American men after radiotherapy for prostate
            cancer
  JOURNAL   Int J Radiat Oncol Biol Phys 78 (5), 1292-1300 (2010)
   PUBMED   20932654
REFERENCE   2  (bases 1 to 3458)
  AUTHORS   Jin J, Arias EE, Chen J, Harper JW and Walter JC.
  TITLE     A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2,
            which is required for S phase destruction of the replication factor
            Cdt1
  JOURNAL   Mol Cell 23 (5), 709-721 (2006)
   PUBMED   16949367
  REMARK    GeneRIF: Functionally characterizes other DDB1- and CUL4-associated
            factors, including the DCAF8 factor which most closely resembles the
            product of this gene.
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AK128123.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000441525.4/ ENSP00000405222.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK128123.1 and AC004553.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001017930.1.
            Summary: This gene encodes a member of the WD repeat protein
            family. WD repeats are minimally conserved regions of approximately
            40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD),
            which may facilitate the formation of heterotrimeric or
            multi-protein complexes. Members of this family are involved in a
            variety of cellular processes, including cell cycle progression,
            signal transduction, apoptosis, and gene regulation. This gene
            appears to represent an intronless retrocopy of a related
            multi-exon gene located on chromosome 1. However, the CDS of this
            intronless gene remains intact, it is conserved in other primate
            species, it is known to be transcribed, and it is therefore thought
            to encode a functional protein. [provided by RefSeq, May 2010].
FEATURES             Location/Qualifiers
     source          1..3458
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp21.3"
     gene            1..3458
                     /gene="DCAF8L1"
                     /gene_synonym="WDR42B"
                     /note="DDB1 and CUL4 associated factor 8 like 1"
                     /db_xref="GeneID:139425"
                     /db_xref="HGNC:HGNC:31810"
     misc_feature    65..67
                     /gene="DCAF8L1"
                     /gene_synonym="WDR42B"
                     /note="upstream in-frame stop codon"
     CDS             116..1918
                     /gene="DCAF8L1"
                     /gene_synonym="WDR42B"
                     /note="WD repeat domain 42B; WD repeat-containing protein
                     42B"
                     /codon_start=1
                     /product="DDB1- and CUL4-associated factor 8-like protein
                     1"
                     /protein_id="NP_001017930.1"
                     /db_xref="CCDS:CCDS35222.1"
                     /db_xref="GeneID:139425"
                     /db_xref="HGNC:HGNC:31810"
                     /translation="MSHQEGSTGGLPDLVTESLFSSPEEQSGVAAVTAASSDIEMAATE
                     PSTGDGGDTRDGGFLNDASTENQNTDSESSSEDVELESMGEGLFGYPLVGEETEREEEE
                     EEMEEEGEEEEQPRMCPRCGGTNHDQCLLDEDQALEEWISSETSALPRSRWQVLTALRQ
                     RQLGSSARFVYEACGARTFVQRFRLQYLLGSHAGSVSTIHFNQRGTRLASSGDDLRVIV
                     WDWVRQKPVLNFESGHDINVIQAKFFPNCGDSTLAMCGHDGQVRVAELINASYCENTKR
                     VAKHRGPAHELALEPDSPYKFLTSGEDAVVFTIDLRQDRPASKVVVTRENDKKVGLYTI
                     SMNPANIYQFAVGGHDQFVRIYDQRRIDKKENNGVLKKFTPHHLVYCDFPTNITCVVYS
                     HDGTELLASYNDEDIYLFNSSLSDGAQYVKRYKGHRNNDTIKCVNFYGPRSEFVVSGSD
                     CGHVFFWEKSSSQIIQFMEGDRGDIVNCLEPHPYLPVLATSGLDQHVRIWTPTAKTATE
                     LTGLKDVIKKNKQERDEDNLNYTDSFDNRMLRFFVRHLLQRAHQPGWRDHGAEFPDEEE
                     LDESSSTSDTSEEEGQDRVQCIPS"
     misc_feature    116..481
                     /gene="DCAF8L1"
                     /gene_synonym="WDR42B"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGE4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    695..814
                     /gene="DCAF8L1"
                     /gene_synonym="WDR42B"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGE4.1);
                     Region: WD 1"
     misc_feature    824..949
                     /gene="DCAF8L1"
                     /gene_synonym="WDR42B"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGE4.1);
                     Region: WD 2"
     misc_feature    965..1087
                     /gene="DCAF8L1"
                     /gene_synonym="WDR42B"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGE4.1);
                     Region: WD 3"
     misc_feature    1109..1231
                     /gene="DCAF8L1"
                     /gene_synonym="WDR42B"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGE4.1);
                     Region: WD 4"
     misc_feature    1277..1396
                     /gene="DCAF8L1"
                     /gene_synonym="WDR42B"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGE4.1);
                     Region: WD 5"
     misc_feature    1418..1540
                     /gene="DCAF8L1"
                     /gene_synonym="WDR42B"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGE4.1);
                     Region: WD 6"
     misc_feature    1550..1669
                     /gene="DCAF8L1"
                     /gene_synonym="WDR42B"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGE4.1);
                     Region: WD 7"
     misc_feature    1799..1915
                     /gene="DCAF8L1"
                     /gene_synonym="WDR42B"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGE4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3434..3439
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCAF8L1"
                     /gene_synonym="WDR42B"
                     /note="hexamer: AATAAA"
     polyA_site      3458
                     /gene="DCAF8L1"
                     /gene_synonym="WDR42B"
                     /note="major polyA site"
ORIGIN
        1 gcttacctac tgccttctcc gaccgtccgt cctcggggca ggcgtgctct cttccctgag
       61 cttttagggg ttggcttttc cagttccaga tcagctacag caaacatcgt tcgagatgtc
      121 ccaccaagag ggcagcacag gtggcttacc agacttagtg actgaaagcc tgttcagcag
      181 cccagaggag cagtctggag tagcagcggt gacggcggcc tcctcagaca ttgaaatggc
      241 agccacagag ccatcgaccg gagatggtgg tgataccagg gatggtggtt tcctgaacga
      301 tgccagcaca gaaaatcaaa acacagactc agaaagttca agtgaagacg tcgaacttga
      361 aagcatgggt gaaggtttat ttggttaccc gttagtggga gaggagacag aaagggagga
      421 ggaagaagaa gagatggagg aggaagggga ggaggaagaa cagcctcgga tgtgtccacg
      481 atgcggtggc accaaccatg atcagtgttt gttagacgag gatcaggcgt tggaggagtg
      541 gatttcctca gagacatctg ccctgccccg atctcgctgg caagtcctta ctgctcttcg
      601 ccagcggcag ctgggttcaa gtgcccgctt tgtatatgag gcctgtgggg caagaacctt
      661 tgtgcagcgt ttccgcctgc agtatcttct tggaagccat gccggttctg tcagtaccat
      721 acactttaac cagcgtggca cccgactggc cagtagcggt gatgacttaa gggtgatagt
      781 gtgggactgg gtgcggcaga agccagtact gaactttgag agtggtcacg atattaatgt
      841 catccaggct aagttctttc ctaactgtgg tgattccact ctggccatgt gtggccatga
      901 tggacaggta cgggtagcag aactaattaa tgcatcatat tgcgagaata ctaagcgtgt
      961 ggccaagcac aggggacctg cccacgagtt ggctctggag ccagactctc cttataagtt
     1021 cctcacttca ggtgaagatg ccgttgtgtt caccattgac ctcaggcaag accggccagc
     1081 ttcaaaagtt gtggtaacaa gagaaaatga taagaaagtc ggactgtata caatctctat
     1141 gaatcctgcc aatatttacc aatttgcagt gggtggacat gatcagtttg taaggattta
     1201 tgaccagagg agaattgata agaaagaaaa caatggagta ctcaagaaat tcactcctca
     1261 tcatctggtt tattgtgatt tcccaacaaa catcacctgc gttgtgtaca gccacgatgg
     1321 cacagagctc ctggccagct acaatgatga agatatttac ctcttcaact cctctctcag
     1381 tgatggtgct caatatgtta agagatataa ggggcacaga aataatgaca caatcaaatg
     1441 tgttaatttc tatggccccc ggagtgagtt tgtcgtgagc ggtagtgatt gtgggcacgt
     1501 cttcttctgg gagaaatcat cctcccagat catccagttc atggaggggg acagaggaga
     1561 tatagtaaac tgtcttgaac cccaccctta cctacctgtg ttggcgacca gtggcctaga
     1621 tcagcatgtc aggatctgga cacccacagc taaaactgcc actgagctta ctgggttaaa
     1681 agatgtgatt aagaagaaca agcaggagcg agatgaagac aacttgaact atacggactc
     1741 gtttgacaac cgcatgcttc ggttcttcgt gcgtcacctg ttacagagag ctcatcaacc
     1801 cggctggaga gatcatggag ctgagttccc agatgaagaa gagttggatg agtcttccag
     1861 cacctcagat acatccgagg aggagggcca agatcgagtg cagtgcatac catcctgaag
     1921 gcctcatatc cagtccagct agatgccacc taagtacact ggactttaaa attcagtttg
     1981 actaatttag aattgtcaat tgattaacag atttgctttt tgtcttctgt ttttgttacc
     2041 ccttatatga gtgcatacac aacttattta tgcctctttt cctttgttcc cttataattg
     2101 acctctaaaa ttgcataatt ttgttgaaaa aattaatggc cttattagat gtatctactc
     2161 atttcagaca ttctgaaagc tattactttt tagttttttc attttttacc aatttatttt
     2221 gaagataaag ttcttcagtt gagttgaaaa tttcataaac gtgtttattc tttagaggta
     2281 aaataaggca aaccatagtt ctttgaatac tgacacacac atacacacag tctcagaaaa
     2341 ggaaaagaga agtagtgtgt agattaattc ctaacacttg gccacacaca cacacagctt
     2401 caaaagttgt agtaacaaga gagaagaata agaaagtggg actgtataca atctctatga
     2461 atcctgccaa tatttaccaa ttcgcagtgg gtggacatga tcggttttta aggatttatg
     2521 accagaggag aattgatgag aaagaaaaca atggagtact caagaaattc actcttcatc
     2581 atctggttaa ttgtgatttt ccaacaaaca tcacctgcat tgtgtacagc cacgatggca
     2641 cagagctcct ggccagctat gcacacacac atacacacag agccttagaa aaggaaaaca
     2701 agaagtagtg tgtagatgaa ttcctaacca gataattcat ctcctcagag caaataactt
     2761 gggattatcc acattttctg aatcaatatg ttaataatat tgattaattt gagcacactg
     2821 aagctggtaa gaactaaatt aaatttaatc acatgacatt gtttactcta tgcattaaat
     2881 gttcttgaag ttttatggtt gggaactccc acaggattac attccaggaa gtcctcctgg
     2941 cgcaagcatc tcctataaga taccagatag gaatataaaa atctctcata tttgaaaaca
     3001 tttattttaa ttaactttta agaataagtt gcaataaaaa ttgtttatac ttacacataa
     3061 ccatttgata cagttggtag aaaaatccta tttaacatcc atgcattgct taaaatttag
     3121 ctgttttatg agtttgtttt gaaaattgtt gcaataaaaa ttgtttatac ttacaagtga
     3181 tgtagttggt agaaaaatcc tatttgacat ccatgcattg cttaaaattt agctgtttta
     3241 tgagtttgtt ttaaaaattg ttgcagtaaa aattgtttat acttacaagt gatgtagttg
     3301 gtagaaaaat cctatttgac atccatggat tgcttaaagt tctctcagct gtcctcgagt
     3361 ttaaattgtt ttaaaaattg tcttaagctt tacttaatat aaatttaagt tactagatgt
     3421 taaattactg ttcaataaaa atattcattt ttatttta
//
LOCUS       NM_001017931             812 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens PAGE family member 3 (PAGE3), transcript variant 2,
            mRNA.
ACCESSION   NM_001017931
VERSION     NM_001017931.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 812)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 812)
  AUTHORS   Brinkmann U, Vasmatzis G, Lee B, Yerushalmi N, Essand M and Pastan
            I.
  TITLE     PAGE-1, an X chromosome-linked GAGE-like gene that is expressed in
            normal and neoplastic prostate, testis, and uterus
  JOURNAL   Proc Natl Acad Sci U S A 95 (18), 10757-10762 (1998)
   PUBMED   9724777
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC140001.1, DB514537.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374951.6/ ENSP00000364089.1
            RefSeq Select criteria :: based on manual assertion, expression,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL158819.14.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 18, 2020 this sequence version replaced NM_001017931.2.
            Summary: This gene is a member of family of proteins that are
            expressed in a variety of tumors and in some fetal and reproductive
            tissues. Multiple alternatively spliced transcript variants have
            been observed. [provided by RefSeq, Jan 2015].
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode
            the same protein.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..812
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.21"
     gene            1..812
                     /gene="PAGE3"
                     /gene_synonym="CT16.6; GAGED1; PAGE-3"
                     /note="PAGE family member 3"
                     /db_xref="GeneID:139793"
                     /db_xref="HGNC:HGNC:4110"
                     /db_xref="MIM:300739"
     misc_feature    374..376
                     /gene="PAGE3"
                     /gene_synonym="CT16.6; GAGED1; PAGE-3"
                     /note="upstream in-frame stop codon"
     CDS             380..721
                     /gene="PAGE3"
                     /gene_synonym="CT16.6; GAGED1; PAGE-3"
                     /note="G antigen, family D, 1; G antigen family D member 1;
                     prostate-associated gene 3 protein; P antigen family,
                     member 3 (prostate associated)"
                     /codon_start=1
                     /product="P antigen family member 3"
                     /protein_id="NP_001017931.3"
                     /db_xref="CCDS:CCDS35307.1"
                     /db_xref="GeneID:139793"
                     /db_xref="HGNC:HGNC:4110"
                     /db_xref="MIM:300739"
                     /translation="MSGHQRTRSRSRERRDDQDSNHPVGAVVAQELPSNDQLQQEEPPI
                     ESQDYTPGQERDEGALDFQVLGLAAYLWELTRSKTGGERGDGPNVKGEFLPNLEPVKIP
                     EAGEGQPSV"
     misc_feature    380..562
                     /gene="PAGE3"
                     /gene_synonym="CT16.6; GAGED1; PAGE-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JUK9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    611..718
                     /gene="PAGE3"
                     /gene_synonym="CT16.6; GAGED1; PAGE-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JUK9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      787..792
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAGE3"
                     /gene_synonym="CT16.6; GAGED1; PAGE-3"
                     /note="hexamer: AATAAA"
     polyA_site      812
                     /gene="PAGE3"
                     /gene_synonym="CT16.6; GAGED1; PAGE-3"
                     /note="major polyA site"
ORIGIN
        1 ttgctgtctg ctgtctgctg tctgctgtct gcgctcagag ctctgccctg agaggtggtc
       61 ctcctgtcct cttcattctt tctcactgac tgggactcag ctggtaggtc cgcagatcag
      121 tcctcctggg aatttagttg tgagtgaatg tgaaggggag ccagcgggct ttggacaggt
      181 cctgcggcac agaaaccaca gtccgtggct tctgagagaa aagggcctcg ccgtcgacgt
      241 ccggctcctc ccaggtcgcg acgccccatg ggcctttgtc gtcgtttctg ggccaggacg
      301 acggaggaag gtggaccgta gaggggagga atcacgtgaa gatggggcga gtgctgggcg
      361 tgctgttgga gagtgaaaca tgagtggaca tcaaagaaca agatccagat ctagagaaag
      421 aagagatgat caagactcta atcatccagt aggggctgtg gttgcccagg agctgcccag
      481 taatgaccag cttcaacaag aggaaccacc aattgaaagt caggattata cacctggtca
      541 agagagagac gagggagcac tggacttcca agtgctaggc ctggcagcct atctctggga
      601 actgactcgg tcaaagactg ggggtgaacg tggagatggt cctaatgtca agggagaatt
      661 tctgccaaat ctggagcctg ttaaaatacc agaagcaggt gaagggcaac catcggttta
      721 aatgaagaca agctgaaacc atacatgcag tctttatgtt ggaaacttca ccagtaaaat
      781 tctctcaata aagtttcaca attgtctgca aa
//
LOCUS       NM_001017961            2481 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens family with sequence similarity 78 member B (FAM78B),
            transcript variant 1, mRNA.
ACCESSION   NM_001017961
VERSION     NM_001017961.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2481)
  AUTHORS   Oshikawa M, Tsutsui C, Ikegami T, Fuchida Y, Matsubara M, Toyama S,
            Usami R, Ohtoko K and Kato S.
  TITLE     Full-length transcriptome analysis of human retina-derived cell
            lines ARPE-19 and Y79 using the vector-capping method
  JOURNAL   Invest Ophthalmol Vis Sci 52 (9), 6662-6670 (2011)
   PUBMED   21697133
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2481)
  AUTHORS   Ehret GB, O'Connor AA, Weder A, Cooper RS and Chakravarti A.
  TITLE     Follow-up of a major linkage peak on chromosome 1 reveals suggestive
            QTLs associated with essential hypertension: GenNet study
  JOURNAL   Eur J Hum Genet 17 (12), 1650-1657 (2009)
   PUBMED   19536175
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 2481)
  AUTHORS   Cheung CL, Chan BY, Chan V, Ikegawa S, Kou I, Ngai H, Smith D, Luk
            KD, Huang QY, Mori S, Sham PC and Kung AW.
  TITLE     Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible
            genetic association with bone mineral density variation
  JOURNAL   Hum Mol Genet 18 (4), 679-687 (2009)
   PUBMED   19064610
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AL580399.3, ERR4352441.89009.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000354422.4/ ENSP00000346404.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL596087.11, AB593134.1, AK299946.1, AL626787.9 and BM663586.1.
            On Aug 31, 2019 this sequence version replaced NM_001017961.4.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2481
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.1"
     gene            1..2481
                     /gene="FAM78B"
                     /note="family with sequence similarity 78 member B"
                     /db_xref="GeneID:149297"
                     /db_xref="HGNC:HGNC:13495"
     misc_feature    679..681
                     /gene="FAM78B"
                     /note="upstream in-frame stop codon"
     CDS             754..1539
                     /gene="FAM78B"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein FAM78B"
                     /codon_start=1
                     /product="protein FAM78B isoform 1"
                     /protein_id="NP_001017961.1"
                     /db_xref="CCDS:CCDS30931.1"
                     /db_xref="GeneID:149297"
                     /db_xref="HGNC:HGNC:13495"
                     /translation="MGCIQSITCKARIRRENIVVYDVCATIDQCPTRIEETSPIVLRYK
                     TPYFKASARVVMPPIPRHETWVVGWIQACNQMEFFNTYSDLGMSSWELPDLREGRVKAI
                     SDSDGVSYPWYGNTTETVTLVGPTNKISRFSVSMNDNFYPSVTWAVPVSDSNVPLLTRI
                     KRDQSFTTWLVAMNTTTKEKIILQTIKWRMRVDIEVDPLQLLGQRARLVGRTQQEQPRI
                     LSRMEPIPPNALVKPNANDAQVLMWRPKRGPPLVVIPPK"
     regulatory      1740..1745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM78B"
                     /note="hexamer: AATAAA"
     polyA_site      1761
                     /gene="FAM78B"
                     /note="major polyA site"
     regulatory      1876..1881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM78B"
                     /note="hexamer: ATTAAA"
     polyA_site      1897
                     /gene="FAM78B"
     regulatory      2458..2463
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM78B"
                     /note="hexamer: AATAAG"
     polyA_site      2481
                     /gene="FAM78B"
ORIGIN
        1 atggcgtaca gccagtttcc tccgcggagc acgtcctgtg ctgctccagc cgttggggct
       61 ctccaccccg ggccacagcc tcctggcgcc ccccgggccg aggcagccgg gccgaggagt
      121 gtcggtgtgg tccggctacg gggcggggcc ggcgggagct ccggtcgccg ccgccgccgc
      181 tgctgcctcc gcctgcctct tgggccgccc gctcgcccgc cgctgggtgc gctgcacgcg
      241 gggggcagcc gtggtgcaga ggttcatgca gcggcggcgg cggcggcggc tgctgctgct
      301 gccgccgcgg aggcagacag accgggcgct gccaccgccg ccctcccccg gctccatgcc
      361 gccgccgctg ccgcctcctc ctctccggcg aggggcgggg ggctccggcc cggggtgggc
      421 accattcctc gcagcgccgc tcccctccct gccctccgcc cgggcgctgg agccggcgag
      481 ggcacccgcc gcctcctagg agtgcaccct ccgcgcgccc tgccggagcg agggggcggg
      541 cgtgggcgga cgtcggggca gcggggaccc cgcgcggctg caagaggagg gggcttcccc
      601 aaggatgccc ggcggctccc cgctcctagg tgcgagctga gtctgaccgg gagcgagcgg
      661 cgcgtcgcca tgccggcgtg acgggcgccc ccggctgccc gcgcgggccc ccgcgctgcc
      721 ccacgccgcg ccgtgccggc accgggctgc aggatgggct gtatccaaag catcacctgc
      781 aaggcgcgga tccggcgcga gaacatcgtg gtgtacgatg tgtgcgccac catcgaccag
      841 tgccccacgc gcatcgagga gacctcgccc atcgtcctgc gctacaagac cccctacttc
      901 aaagcctccg cccgcgtggt catgcccccc atcccccgcc acgagacctg ggtggtgggc
      961 tggattcagg cgtgcaatca gatggagttc ttcaacacct acagcgacct gggcatgtca
     1021 agctgggaac tgcctgactt gagggaaggg agagtaaaag ccatcagtga ctcagatggg
     1081 gtgagctacc cttggtacgg gaacaccaca gaaactgtga ccctggttgg ccccaccaac
     1141 aagatctcca ggttctccgt cagcatgaat gacaacttct accccagtgt gacatgggca
     1201 gtgcctgtga gtgacagcaa tgtgccactg ctcacaagaa tcaagagaga ccaaagtttc
     1261 acgacctggc tggtggccat gaacaccacc acaaaggaga agatcattct gcagaccatc
     1321 aagtggagga tgagggtgga cattgaagtg gaccctcttc agctcttggg gcagcgggcc
     1381 cggctggtgg gcaggactca gcaggagcag ccccggatcc tgagccggat ggaacccatc
     1441 ccccctaatg cactagtgaa acccaatgcc aatgatgccc aggtcctcat gtggaggccc
     1501 aagcgggggc cacctctggt tgtgatccct cctaagtaga agcagactgg cctgactgtg
     1561 tgtggatcac acgcctctga gacatgcagt gagggtgcca ggggtggcag gagccaaaca
     1621 gagtttctga gccaaagcag acctctcggt ttgccagcct ttgcagccac ttttgaagag
     1681 tagggctgct ccttgggtgg tagaaccata atccttagga aaaatccctt cctcttagga
     1741 ataaagaaat cactgatttg acagacttgc tgtgattacc atgcaagtag ccatattttg
     1801 gagctgacca ggatgattct tttatctgaa ctattgacca tttctttcct gtgagatgca
     1861 ggggatggaa acgaaattaa acagtgcctg tggcaaatgc tgcttcccag ccaattagaa
     1921 gtaggagtga aaacatccac accaggtggt cgtaagacag actcctgctg tctgactgga
     1981 gggtgctggg gaaatgggtg gtgaaagaat gggtgatggg gagaggaaag aataaggttt
     2041 tatgacacat taatacttct gcatttatta gttgataatc agatcaacac actcaatgga
     2101 atgaatgctt agaaaactag acaaatactg atatttgctc ctttctgagg gagaaagcct
     2161 ccttggaact gtccaaggtg ctgatgtgaa ctaacggaaa cacttcatta gttccgtcta
     2221 cccacctctt tccaaaaaga ttgcttattc agagtatttt taatcacagt atttggcttt
     2281 gtaattccca cattctgcaa tagttatgat atttggggcc ctgtccatgt tttagtgaaa
     2341 tcctaactaa cttgattttg tttacagctg cttattctgt tcccatgatt agccctaaat
     2401 ttatatttaa aaagttatga gccatgaatc catgtaaggt tcaagaacat ttcagcaaat
     2461 aagaacagca ttttcattct g
//
LOCUS       NM_001017962            2743 bp    mRNA    linear   PRI 26-JUN-2023
DEFINITION  Homo sapiens prolyl 4-hydroxylase subunit alpha 1 (P4HA1),
            transcript variant 2, mRNA.
ACCESSION   NM_001017962
VERSION     NM_001017962.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2743)
  AUTHORS   Sato K, Sano D, Takahashi H, Kuwahara T, Aizawa Y, Aoyama J, Nojima
            Y, Hatano T, Arai Y, Nishimura G, Hatakeyama H and Oridate N.
  TITLE     P4HA1 Promotes Cell Migration and Colonization in Hypopharyngeal
            Squamous Cell Carcinoma
  JOURNAL   Anticancer Res 43 (6), 2571-2582 (2023)
   PUBMED   37247900
  REMARK    GeneRIF: P4HA1 Promotes Cell Migration and Colonization in
            Hypopharyngeal Squamous Cell Carcinoma.
REFERENCE   2  (bases 1 to 2743)
  AUTHORS   Zhou R, Qiu L, Zhou L, Geng R, Yang S and Wu J.
  TITLE     P4HA1 activates HMGCS1 to promote nasopharyngeal carcinoma
            ferroptosis resistance and progression
  JOURNAL   Cell Signal 105, 110609 (2023)
   PUBMED   36702290
  REMARK    GeneRIF: P4HA1 activates HMGCS1 to promote nasopharyngeal carcinoma
            ferroptosis resistance and progression.
REFERENCE   3  (bases 1 to 2743)
  AUTHORS   Gou W, Yang Y, Shan Q, Xia S and Ma Y.
  TITLE     P4HA1, transcriptionally activated by STAT1, promotes esophageal
            cancer progression
  JOURNAL   Pathol Int 73 (4), 147-158 (2023)
   PUBMED   36734588
  REMARK    GeneRIF: P4HA1, transcriptionally activated by STAT1, promotes
            esophageal cancer progression.
REFERENCE   4  (bases 1 to 2743)
  AUTHORS   Zhu M, Yan T, Zhu S, Weng F, Zhu K, Wang C and Guo C.
  TITLE     Identification and verification of FN1, P4HA1 and CREBBP as
            potential biomarkers in human atrial fibrillation
  JOURNAL   Math Biosci Eng 20 (4), 6947-6965 (2023)
   PUBMED   37161136
  REMARK    GeneRIF: Identification and verification of FN1, P4HA1 and CREBBP as
            potential biomarkers in human atrial fibrillation.
REFERENCE   5  (bases 1 to 2743)
  AUTHORS   Cao X, Cao Y, Zhao H, Wang P and Zhu Z.
  TITLE     Prolyl 4-hydroxylase P4HA1 Mediates the Interplay Between Glucose
            Metabolism and Stemness in Pancreatic Cancer Cells
  JOURNAL   Curr Stem Cell Res Ther 18 (5), 712-719 (2023)
   PUBMED   36043766
  REMARK    GeneRIF: Prolyl 4-hydroxylase P4HA1 Mediates the Interplay Between
            Glucose Metabolism and Stemness in Pancreatic Cancer Cells.
REFERENCE   6  (bases 1 to 2743)
  AUTHORS   Horelli-Kuitunen N, Kvist AP, Helaakoski T, Kivirikko K,
            Pihlajaniemi T and Palotie A.
  TITLE     The order and transcriptional orientation of the human COL13A1 and
            P4HA genes on chromosome 10 long arm determined by high-resolution
            FISH
  JOURNAL   Genomics 46 (2), 299-302 (1997)
   PUBMED   9417920
REFERENCE   7  (bases 1 to 2743)
  AUTHORS   Annunen P, Helaakoski T, Myllyharju J, Veijola J, Pihlajaniemi T and
            Kivirikko KI.
  TITLE     Cloning of the human prolyl 4-hydroxylase alpha subunit isoform
            alpha(II) and characterization of the type II enzyme tetramer. The
            alpha(I) and alpha(II) subunits do not form a mixed
            alpha(I)alpha(II)beta2 tetramer
  JOURNAL   J Biol Chem 272 (28), 17342-17348 (1997)
   PUBMED   9211872
REFERENCE   8  (bases 1 to 2743)
  AUTHORS   Helaakoski T, Veijola J, Vuori K, Rehn M, Chow LT, Taillon-Miller P,
            Kivirikko KI and Pihlajaniemi T.
  TITLE     Structure and expression of the human gene for the alpha subunit of
            prolyl 4-hydroxylase. The two alternatively spliced types of mRNA
            correspond to two homologous exons the sequences of which are
            expressed in a variety of tissues
  JOURNAL   J Biol Chem 269 (45), 27847-27854 (1994)
   PUBMED   7961714
REFERENCE   9  (bases 1 to 2743)
  AUTHORS   Pajunen L, Jones TA, Helaakoski T, Pihlajaniemi T, Solomon E, Sheer
            D and Kivirikko KI.
  TITLE     Assignment of the gene coding for the alpha-subunit of prolyl
            4-hydroxylase to human chromosome region 10q21.3-23.1
  JOURNAL   Am J Hum Genet 45 (6), 829-834 (1989)
   PUBMED   2556027
REFERENCE   10  (bases 1 to 2743)
  AUTHORS   Helaakoski T, Vuori K, Myllyla R, Kivirikko KI and Pihlajaniemi T.
  TITLE     Molecular cloning of the alpha-subunit of human prolyl
            4-hydroxylase: the complete cDNA-derived amino acid sequence and
            evidence for alternative splicing of RNA transcripts
  JOURNAL   Proc Natl Acad Sci U S A 86 (12), 4392-4396 (1989)
   PUBMED   2543975
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC034998.1, M24487.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000394890.7/ ENSP00000378353.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB030709.1, BC034998.1 and
            AI061083.1.
            On Aug 13, 2020 this sequence version replaced NM_001017962.2.
            Summary: This gene encodes a component of prolyl 4-hydroxylase, a
            key enzyme in collagen synthesis composed of two identical alpha
            subunits and two beta subunits. The encoded protein is one of
            several different types of alpha subunits and provides the major
            part of the catalytic site of the active enzyme. In collagen and
            related proteins, prolyl 4-hydroxylase catalyzes the formation of
            4-hydroxyproline that is essential to the proper three-dimensional
            folding of newly synthesized procollagen chains. Alternatively
            spliced transcript variants encoding different isoforms have been
            described. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) contains an alternate in-frame
            exon, compared to variant 1. It encodes isoform 2, which is the
            same length as isoform 1. Variants 2 and 3 both encode isoform 2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2743
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..2743
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /note="prolyl 4-hydroxylase subunit alpha 1"
                     /db_xref="GeneID:5033"
                     /db_xref="HGNC:HGNC:8546"
                     /db_xref="MIM:176710"
     misc_feature    107..109
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /note="upstream in-frame stop codon"
     CDS             134..1738
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /EC_number="1.14.11.2"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; C-P4Halpha(I); collagen prolyl 4-hydroxylase alpha(I);
                     procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline
                     4-hydroxylase), alpha polypeptide I;
                     procollagen-proline,2-oxoglutarate-4-dioxygenase subunit
                     alpha-1; prolyl 4-hydroxylase, alpha polypeptide I"
                     /codon_start=1
                     /product="prolyl 4-hydroxylase subunit alpha-1 isoform 2
                     precursor"
                     /protein_id="NP_001017962.1"
                     /db_xref="CCDS:CCDS41537.1"
                     /db_xref="GeneID:5033"
                     /db_xref="HGNC:HGNC:8546"
                     /db_xref="MIM:176710"
                     /translation="MIWYILIIGILLPQSLAHPGFFTSIGQMTDLIHTEKDLVTSLKDY
                     IKAEEDKLEQIKKWAEKLDRLTSTATKDPEGFVGHPVNAFKLMKRLNTEWSELENLVLK
                     DMSDGFISNLTIQRQYFPNDEDQVGAAKALLRLQDTYNLDTDTISKGNLPGVKHKSFLT
                     AEDCFELGKVAYTEADYYHTELWMEQALRQLDEGEISTIDKVSVLDYLSYAVYQQGDLD
                     KALLLTKKLLELDPEHQRANGNLKYFEYIMAKEKDVNKSASDDQSDQKTTPKKKGVAVD
                     YLPERQKYEMLCRGEGIKMTPRRQKKLFCRYHDGNRNPKFILAPAKQEDEWDKPRIIRF
                     HDIISDAEIEIVKDLAKPRLRRATISNPITGDLETVHYRISKSAWLSGYENPVVSRINM
                     RIQDLTGLDVSTAEELQVANYGVGGQYEPHFDFARKDEPDAFKELGTGNRIATWLFYMS
                     DVSAGGATVFPEVGASVWPKKGTAVFWYNLFASGEGDYSTRHAACPVLVGNKWVSNKWL
                     HERGQEFRRPCTLSELE"
     sig_peptide     134..184
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     185..1735
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /product="prolyl 4-hydroxylase subunit alpha-1 isoform 2"
     misc_feature    470..472
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P13674.2); glycosylation site"
     misc_feature    746..847
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /note="propagated from UniProtKB/Swiss-Prot (P13674.2);
                     Region: TPR"
     misc_feature    908..910
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P13674.2); glycosylation site"
     polyA_site      2743
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /note="major polyA site"
ORIGIN
        1 gcccagtcgc gccgccagcg ggctgagggt aggaagtagc cgctccgagt ggaggcgact
       61 gggggctgaa gagcgcgccg ccctctcgtc ccactttcca ggtgtgtgat cctgtaaaat
      121 taaatcttcc aagatgatct ggtatatatt aattatagga attctgcttc cccagtcttt
      181 ggctcatcca ggctttttta cttcaattgg tcagatgact gatttgatcc atactgagaa
      241 agatctggtg acttctctga aagattatat taaggcagaa gaggacaagt tagaacaaat
      301 aaaaaaatgg gcagagaagt tagatcggct aactagtaca gcgacaaaag atccagaagg
      361 atttgttggg catccagtaa atgcattcaa attaatgaaa cgtctgaata ctgagtggag
      421 tgagttggag aatctggtcc ttaaggatat gtcagatggc tttatctcta acctaaccat
      481 tcagagacag tactttccta atgatgaaga tcaggttggg gcagccaaag ctctgttacg
      541 tctccaggat acctacaatt tggatacaga taccatctca aagggtaatc ttccaggagt
      601 gaaacacaaa tcttttctaa cggctgagga ctgctttgag ttgggcaaag tggcctatac
      661 agaagcagat tattaccata cggaactgtg gatggaacaa gccctaaggc aactggatga
      721 aggcgagatt tctaccatag ataaagtctc tgttctagat tatttgagct atgcggtata
      781 tcagcaggga gacctggata aggcactttt gctcacaaag aagcttcttg aactagatcc
      841 tgaacatcag agagctaatg gtaacttaaa atattttgag tatataatgg ctaaagaaaa
      901 agatgtcaat aagtctgctt cagatgacca atctgatcag aaaactacac caaagaaaaa
      961 aggggttgct gtggattacc tgccagagag acagaagtac gaaatgctgt gccgtgggga
     1021 gggtatcaaa atgacccctc ggagacagaa aaaactcttt tgccgctacc atgatggaaa
     1081 ccgtaatcct aaatttattc tggctccagc taaacaggag gatgaatggg acaagcctcg
     1141 tattattcgc ttccatgata ttatttctga tgcagaaatt gaaatcgtca aagacctagc
     1201 aaaaccaagg ctgaggcgag ccaccatttc aaacccaata acaggagact tggagacggt
     1261 acattacaga attagcaaaa gtgcctggct ctctggctat gaaaatcctg tggtgtctcg
     1321 aattaatatg agaatacaag atctaacagg actagatgtt tccacagcag aggaattaca
     1381 ggtagcaaat tatggagttg gaggacagta tgaaccccat tttgactttg cacggaaaga
     1441 tgagccagat gctttcaaag agctggggac aggaaataga attgctacat ggctgtttta
     1501 tatgagtgat gtgtctgcag gaggagccac tgtttttcct gaagttggag ctagtgtttg
     1561 gcccaaaaaa ggaactgctg ttttctggta taatctgttt gccagtggag aaggagatta
     1621 tagtacacgg catgcagcct gtccagtgct agttggcaac aaatgggtat ccaataaatg
     1681 gctccatgaa cgtggacaag aatttcgaag accttgtacg ttgtcagaat tggaatgaca
     1741 aacaggcttc cctttttctc ctattgttgt actcttatgt gtctgatata cacatttcct
     1801 agtcttaact ttcaggagtt tacaattgac taacactcca tgattgattc agtcatgaac
     1861 ctcatcccat gtttcatctg tggacaattg cttactttgt gggttctttt aaaagtaaca
     1921 cgaaatcatc atattgcata aaaccttaaa gttctgttgg tatcacagaa gacaaggcag
     1981 agtttaaagt gaggaatttt atatttaaag aactttttgg ttggataaaa acataatttg
     2041 agcatccagt tttagtattt cactacatct cagttggtgg gtgttaagct agaatgggct
     2101 gtgtgatagg aaacaaatgc cttacagatg tgcctaggtg ttctgtttac ctagtgtctt
     2161 actctgtttt ctggatctga agactagtaa taaactagga cactaactgg gttccatgtg
     2221 attgcccttt catatgatct tctaagttga tttttttcct cccaagtctt ttttaaagaa
     2281 agtatactgt attttaccaa ccccctctct tttcttttag ctcctctgtg gtgaattaaa
     2341 cgtacttgag ttaaaatatt tcgatttttt tttttttttt aatggaaagt cctgcataac
     2401 aacactgggc cttcttaact aaaatgctca ccacttagcc tgttttttta tccctttttt
     2461 aaaatgacag atgattttgt tcaggaattt tgctgttttt cttagtgcta ataccttgcc
     2521 tcttattcct gctacagcag ggtggtaata ttggcattct gattaaatac tgtgccttag
     2581 gagactggaa gtttaaaaat gtacaagtcc tttcagtgat gagggaattg atttttttta
     2641 aaagtctttt tcttagaaag ccaaaatgtt tgttttttta agattctgaa atgtgttgtg
     2701 acaacaatga cctatttatg atcttaaatc ttttttaaaa aaa
//
LOCUS       NM_001017964            1309 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens YdjC chitooligosaccharide deacetylase homolog (YDJC),
            transcript variant 1, mRNA.
ACCESSION   NM_001017964
VERSION     NM_001017964.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1309)
  AUTHORS   Okada Y, Wu D, Trynka G, Raj T, Terao C, Ikari K, Kochi Y, Ohmura K,
            Suzuki A, Yoshida S, Graham RR, Manoharan A, Ortmann W, Bhangale T,
            Denny JC, Carroll RJ, Eyler AE, Greenberg JD, Kremer JM, Pappas DA,
            Jiang L, Yin J, Ye L, Su DF, Yang J, Xie G, Keystone E, Westra HJ,
            Esko T, Metspalu A, Zhou X, Gupta N, Mirel D, Stahl EA, Diogo D, Cui
            J, Liao K, Guo MH, Myouzen K, Kawaguchi T, Coenen MJ, van Riel PL,
            van de Laar MA, Guchelaar HJ, Huizinga TW, Dieude P, Mariette X,
            Bridges SL Jr, Zhernakova A, Toes RE, Tak PP, Miceli-Richard C, Bang
            SY, Lee HS, Martin J, Gonzalez-Gay MA, Rodriguez-Rodriguez L,
            Rantapaa-Dahlqvist S, Arlestig L, Choi HK, Kamatani Y, Galan P,
            Lathrop M, Eyre S, Bowes J, Barton A, de Vries N, Moreland LW,
            Criswell LA, Karlson EW, Taniguchi A, Yamada R, Kubo M, Liu JS, Bae
            SC, Worthington J, Padyukov L, Klareskog L, Gregersen PK,
            Raychaudhuri S, Stranger BE, De Jager PL, Franke L, Visscher PM,
            Brown MA, Yamanaka H, Mimori T, Takahashi A, Xu H, Behrens TW,
            Siminovitch KA, Momohara S, Matsuda F, Yamamoto K and Plenge RM.
  CONSRTM   RACI consortium; GARNET consortium
  TITLE     Genetics of rheumatoid arthritis contributes to biology and drug
            discovery
  JOURNAL   Nature 506 (7488), 376-381 (2014)
   PUBMED   24390342
REFERENCE   2  (bases 1 to 1309)
  AUTHORS   van der Harst P, Zhang W, Mateo Leach I, Rendon A, Verweij N, Sehmi
            J, Paul DS, Elling U, Allayee H, Li X, Radhakrishnan A, Tan ST, Voss
            K, Weichenberger CX, Albers CA, Al-Hussani A, Asselbergs FW, Ciullo
            M, Danjou F, Dina C, Esko T, Evans DM, Franke L, Gogele M, Hartiala
            J, Hersch M, Holm H, Hottenga JJ, Kanoni S, Kleber ME, Lagou V,
            Langenberg C, Lopez LM, Lyytikainen LP, Melander O, Murgia F, Nolte
            IM, O'Reilly PF, Padmanabhan S, Parsa A, Pirastu N, Porcu E, Portas
            L, Prokopenko I, Ried JS, Shin SY, Tang CS, Teumer A, Traglia M,
            Ulivi S, Westra HJ, Yang J, Zhao JH, Anni F, Abdellaoui A, Attwood
            A, Balkau B, Bandinelli S, Bastardot F, Benyamin B, Boehm BO,
            Cookson WO, Das D, de Bakker PI, de Boer RA, de Geus EJ, de Moor MH,
            Dimitriou M, Domingues FS, Doring A, Engstrom G, Eyjolfsson GI,
            Ferrucci L, Fischer K, Galanello R, Garner SF, Genser B, Gibson QD,
            Girotto G, Gudbjartsson DF, Harris SE, Hartikainen AL, Hastie CE,
            Hedblad B, Illig T, Jolley J, Kahonen M, Kema IP, Kemp JP, Liang L,
            Lloyd-Jones H, Loos RJ, Meacham S, Medland SE, Meisinger C, Memari
            Y, Mihailov E, Miller K, Moffatt MF, Nauck M, Novatchkova M, Nutile
            T, Olafsson I, Onundarson PT, Parracciani D, Penninx BW, Perseu L,
            Piga A, Pistis G, Pouta A, Puc U, Raitakari O, Ring SM, Robino A,
            Ruggiero D, Ruokonen A, Saint-Pierre A, Sala C, Salumets A, Sambrook
            J, Schepers H, Schmidt CO, Sillje HH, Sladek R, Smit JH, Starr JM,
            Stephens J, Sulem P, Tanaka T, Thorsteinsdottir U, Tragante V, van
            Gilst WH, van Pelt LJ, van Veldhuisen DJ, Volker U, Whitfield JB,
            Willemsen G, Winkelmann BR, Wirnsberger G, Algra A, Cucca F, d'Adamo
            AP, Danesh J, Deary IJ, Dominiczak AF, Elliott P, Fortina P, Froguel
            P, Gasparini P, Greinacher A, Hazen SL, Jarvelin MR, Khaw KT,
            Lehtimaki T, Maerz W, Martin NG, Metspalu A, Mitchell BD, Montgomery
            GW, Moore C, Navis G, Pirastu M, Pramstaller PP, Ramirez-Solis R,
            Schadt E, Scott J, Shuldiner AR, Smith GD, Smith JG, Snieder H,
            Sorice R, Spector TD, Stefansson K, Stumvoll M, Tang WH, Toniolo D,
            Tonjes A, Visscher PM, Vollenweider P, Wareham NJ, Wolffenbuttel BH,
            Boomsma DI, Beckmann JS, Dedoussis GV, Deloukas P, Ferreira MA,
            Sanna S, Uda M, Hicks AA, Penninger JM, Gieger C, Kooner JS,
            Ouwehand WH, Soranzo N and Chambers JC.
  TITLE     Seventy-five genetic loci influencing the human red blood cell
  JOURNAL   Nature 492 (7429), 369-375 (2012)
   PUBMED   23222517
REFERENCE   3  (bases 1 to 1309)
  AUTHORS   Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee
            JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K,
            Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z,
            Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN,
            Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A,
            Boucher G, Brand S, Buning C, Cohain A, Cichon S, D'Amato M, De Jong
            D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR,
            Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J,
            Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH,
            Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees
            CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W,
            Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter
            JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms
            LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget
            HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ,
            Zeissig S, Zhang B, Zhang CK, Zhao H, Silverberg MS, Annese V,
            Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt
            EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC and Cho JH.
  CONSRTM   International IBD Genetics Consortium (IIBDGC)
  TITLE     Host-microbe interactions have shaped the genetic architecture of
            inflammatory bowel disease
  JOURNAL   Nature 491 (7422), 119-124 (2012)
   PUBMED   23128233
REFERENCE   4  (bases 1 to 1309)
  AUTHORS   Zhernakova A, Stahl EA, Trynka G, Raychaudhuri S, Festen EA, Franke
            L, Westra HJ, Fehrmann RS, Kurreeman FA, Thomson B, Gupta N, Romanos
            J, McManus R, Ryan AW, Turner G, Brouwer E, Posthumus MD, Remmers
            EF, Tucci F, Toes R, Grandone E, Mazzilli MC, Rybak A, Cukrowska B,
            Coenen MJ, Radstake TR, van Riel PL, Li Y, de Bakker PI, Gregersen
            PK, Worthington J, Siminovitch KA, Klareskog L, Huizinga TW,
            Wijmenga C and Plenge RM.
  TITLE     Meta-analysis of genome-wide association studies in celiac disease
            and rheumatoid arthritis identifies fourteen non-HLA shared loci
  JOURNAL   PLoS Genet 7 (2), e1002004 (2011)
   PUBMED   21383967
REFERENCE   5  (bases 1 to 1309)
  AUTHORS   Franke A, McGovern DP, Barrett JC, Wang K, Radford-Smith GL, Ahmad
            T, Lees CW, Balschun T, Lee J, Roberts R, Anderson CA, Bis JC,
            Bumpstead S, Ellinghaus D, Festen EM, Georges M, Green T,
            Haritunians T, Jostins L, Latiano A, Mathew CG, Montgomery GW,
            Prescott NJ, Raychaudhuri S, Rotter JI, Schumm P, Sharma Y, Simms
            LA, Taylor KD, Whiteman D, Wijmenga C, Baldassano RN, Barclay M,
            Bayless TM, Brand S, Buning C, Cohen A, Colombel JF, Cottone M,
            Stronati L, Denson T, De Vos M, D'Inca R, Dubinsky M, Edwards C,
            Florin T, Franchimont D, Gearry R, Glas J, Van Gossum A, Guthery SL,
            Halfvarson J, Verspaget HW, Hugot JP, Karban A, Laukens D, Lawrance
            I, Lemann M, Levine A, Libioulle C, Louis E, Mowat C, Newman W,
            Panes J, Phillips A, Proctor DD, Regueiro M, Russell R, Rutgeerts P,
            Sanderson J, Sans M, Seibold F, Steinhart AH, Stokkers PC, Torkvist
            L, Kullak-Ublick G, Wilson D, Walters T, Targan SR, Brant SR, Rioux
            JD, D'Amato M, Weersma RK, Kugathasan S, Griffiths AM, Mansfield JC,
            Vermeire S, Duerr RH, Silverberg MS, Satsangi J, Schreiber S, Cho
            JH, Annese V, Hakonarson H, Daly MJ and Parkes M.
  TITLE     Genome-wide meta-analysis increases to 71 the number of confirmed
            Crohn's disease susceptibility loci
  JOURNAL   Nat Genet 42 (12), 1118-1125 (2010)
   PUBMED   21102463
REFERENCE   6  (bases 1 to 1309)
  AUTHORS   Dubois PC, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A,
            Zhernakova A, Heap GA, Adany R, Aromaa A, Bardella MT, van den Berg
            LH, Bockett NA, de la Concha EG, Dema B, Fehrmann RS,
            Fernandez-Arquero M, Fiatal S, Grandone E, Green PM, Groen HJ,
            Gwilliam R, Houwen RH, Hunt SE, Kaukinen K, Kelleher D,
            Korponay-Szabo I, Kurppa K, MacMathuna P, Maki M, Mazzilli MC,
            McCann OT, Mearin ML, Mein CA, Mirza MM, Mistry V, Mora B, Morley
            KI, Mulder CJ, Murray JA, Nunez C, Oosterom E, Ophoff RA, Polanco I,
            Peltonen L, Platteel M, Rybak A, Salomaa V, Schweizer JJ, Sperandeo
            MP, Tack GJ, Turner G, Veldink JH, Verbeek WH, Weersma RK, Wolters
            VM, Urcelay E, Cukrowska B, Greco L, Neuhausen SL, McManus R,
            Barisani D, Deloukas P, Barrett JC, Saavalainen P, Wijmenga C and
            van Heel DA.
  TITLE     Multiple common variants for celiac disease influencing immune gene
            expression
  JOURNAL   Nat Genet 42 (4), 295-302 (2010)
   PUBMED   20190752
  REMARK    Erratum:[Nat Genet.2010 May;42(5):465]
REFERENCE   7  (bases 1 to 1309)
  AUTHORS   Imagawa T, Iino H, Kanagawa M, Ebihara A, Kuramitsu S and Tsuge H.
  TITLE     Crystal structure of the YdjC-family protein TTHB029 from Thermus
            thermophilus HB8: structural relationship with peptidoglycan
            N-acetylglucosamine deacetylase
  JOURNAL   Biochem Biophys Res Commun 367 (3), 535-541 (2008)
   PUBMED   18177738
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.586320.1,
            SRR18074967.498106.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000292778.11/ ENSP00000292778.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI597711.1, BC057814.1 and BQ050386.1.
            On Jul 9, 2019 this sequence version replaced NM_001017964.1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1309
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..1309
                     /gene="YDJC"
                     /note="YdjC chitooligosaccharide deacetylase homolog"
                     /db_xref="GeneID:150223"
                     /db_xref="HGNC:HGNC:27158"
                     /db_xref="MIM:619770"
     CDS             9..980
                     /gene="YDJC"
                     /note="isoform 1 is encoded by transcript variant 1;
                     UPF0249 protein ydjC homolog; carbohydrate deacetylase;
                     YdjC homolog"
                     /codon_start=1
                     /product="carbohydrate deacetylase isoform 1"
                     /protein_id="NP_001017964.1"
                     /db_xref="CCDS:CCDS33613.1"
                     /db_xref="GeneID:150223"
                     /db_xref="HGNC:HGNC:27158"
                     /db_xref="MIM:619770"
                     /translation="MSRPRMRLVVTADDFGYCPRRDEGIVEAFLAGAVTSVSLLVNGAA
                     TESAAELARRHSIPTGLHANLSEGRPVGPARRGASSLLGPEGFFLGKMGFREAVAAGDV
                     DLPQVREELEAQLSCFRELLGRAPTHADGHQHVHVLPGVCQVFAEALQAYGVRFTRLPL
                     ERGVGGCTWLEAPARAFACAVERDARAAVGPFSRHGLRWTDAFVGLSTCGRHMSAHRVS
                     GALARVLEGTLAGHTLTAELMAHPGYPSVPPTGGCGEGPDAFSCSWERLHELRVLTAPT
                     LRAQLAQDGVQLCALDDLDSKRPGEEVPCEPTLEPFLEPSLL"
     regulatory      1285..1290
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YDJC"
                     /note="hexamer: AATAAA"
     polyA_site      1309
                     /gene="YDJC"
                     /note="major polyA site"
ORIGIN
        1 aggcggccat gtcccgccct cgcatgcgcc tggtggtcac cgcggacgac tttggttact
       61 gcccgcgacg cgatgagggt atcgtggagg cctttctggc cggggctgtg accagcgtgt
      121 ccctgctggt caacggtgcg gccacggaga gcgcggcgga gctggcccgc aggcacagca
      181 tccccacggg cctccacgcc aacctgtccg agggccgccc cgtgggtccg gcccgccgtg
      241 gcgcctcatc gctgctcggc ccggaaggct tcttccttgg caagatggga ttccgggagg
      301 cggtggcggc cggagacgtg gatttgcctc aggtgcggga ggagctcgag gcccaactaa
      361 gctgcttccg ggagctgctg ggcagggccc ccacgcacgc ggacgggcac cagcacgtgc
      421 acgtgctccc aggcgtgtgc caggtgttcg ccgaggcgct gcaggcctat ggggtgcgct
      481 ttacgcgact gccgctggag cgcggtgtgg gtggctgcac ttggctggag gcccccgcgc
      541 gtgccttcgc ctgcgccgtg gagcgcgacg cccgggccgc cgtgggcccc ttctcccgcc
      601 acggcctgcg gtggacagac gccttcgtgg gcctgagcac ttgcggccgg cacatgtccg
      661 ctcaccgcgt gtccggggcc ctggcgcggg tcctggaagg taccctagcg ggccacaccc
      721 tgacagccga gctgatggcg caccccggct accccagtgt gcctcccacc ggcggctgcg
      781 gtgaaggccc cgacgctttc tcttgctctt gggagcggct gcatgagctg cgcgtcctca
      841 ccgcgcccac gctgcgggcc cagcttgccc aggatggcgt gcagctttgc gccctcgacg
      901 acctggactc caagaggcca ggggaggagg tcccctgtga gcccactctg gaacccttcc
      961 tggaaccctc cctactctga ccccctacag acaaccaagc actaatcccc ttagtaccaa
     1021 gaaaggggag ccaggattta gtcctggccc agcccagagc tgggacctgg agcacgatct
     1081 gttgacttcc ctgggtagga cactgccacc tctgggctca ggtcctcatg cctccaaatg
     1141 gcatctagag tttgagcagc cttcttggct gcaggcaggc ctagcctgtg gcagcgggct
     1201 agggcccgca gagcatttgg tgcccctcca tgttgcaatg caaacacctt caccactggg
     1261 gcagtgggga gagatggcta tattaataaa ataacgtgtg tctttcaaa
//
LOCUS       NM_001017969            7669 bp    mRNA    linear   PRI 22-SEP-2023
DEFINITION  Homo sapiens bromodomain containing 10 (BRD10), mRNA.
ACCESSION   NM_001017969
VERSION     NM_001017969.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7669)
  AUTHORS   Marmorstein R and Zhou MM.
  TITLE     Writers and readers of histone acetylation: structure, mechanism,
            and inhibition
  JOURNAL   Cold Spring Harb Perspect Biol 6 (7), a018762 (2014)
   PUBMED   24984779
  REMARK    Review article Publication Status: Online-Only
REFERENCE   2  (bases 1 to 7669)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   3  (bases 1 to 7669)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000399933.8/ ENSP00000382815.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL162384.14, DY655479.1, AL365360.9 and BC108654.1.
            On Nov 23, 2018 this sequence version replaced NM_001017969.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The exon combination of this
            transcript is predicted based on partial transcript alignments and
            orthologous data.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7669
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.1"
     gene            1..7669
                     /gene="BRD10"
                     /gene_synonym="KIAA2026"
                     /note="bromodomain containing 10"
                     /db_xref="GeneID:158358"
                     /db_xref="HGNC:HGNC:23378"
     misc_feature    681..683
                     /gene="BRD10"
                     /gene_synonym="KIAA2026"
                     /note="upstream in-frame stop codon"
     CDS             696..7007
                     /gene="BRD10"
                     /gene_synonym="KIAA2026"
                     /codon_start=1
                     /product="uncharacterized protein KIAA2026"
                     /protein_id="NP_001017969.2"
                     /db_xref="GeneID:158358"
                     /db_xref="HGNC:HGNC:23378"
                     /translation="MSVPGTPGAMEPAGEEERPPPAAEGEDDEEEVAAAAQTSGPAHGR
                     SASSLEDADDQEEEMEAMVIGGGCCKEQELTYELQQGYRILGEFLQEKHRGLTAPFLQP
                     LGGVATAEEEVAEGPRSGGRGGRAFPQQPGQGMCLLQMEEKFASGQYGGITEFVADFRL
                     MLETCYRLHGVDHWISKQGQKLEMMLEQKLALLSRHLREKTTIAVTSRGYYGLEDEKGT
                     ACTSTRRRSTPRSLAGLTSGVFESIMVQVLRQEEQLRAKEEKRLREQERKEAEEASQKE
                     IEEWERKLLAQAAPTCMETMWEIPAIGHFLCLAQQILNLPEIVFYELERCLLMPQCNAF
                     LSKIMTSLLSPPHRRPTLHRRPTLPYRTWEAALRQKVQQWYTAVGQTENPDNCAEKLGL
                     CPQFFKVLGEVNPLEEKPFHELPFYQKVWLLKGLCDFVYETQKEVQDAVLGQPIHECRE
                     VILGYDYLENAYVHFPQFCGADVRIYKQRPFQAPEFPIPPIKIQRVPRIKLEKLKCDYV
                     STSNGEHRCSRDSLPSSFKKEQENNFDPACCPAKMILDNHDISVEMGVKSNYEIRIRRP
                     CEIKKTDCCKENLEKPRSPGEVTGFGEPLSPGEIRFIENQEKYGEASRIKIEPSPLKEN
                     TLKSCQIHVNGSHSDHPEINCHKVVRDILLEQSLQSHKKLKLTKMRAKKKKKKKKKLKD
                     VLNENLQRKREGLHSLAFKSYKPEIQNKLLIIKKKAKHKKHKSGKKSVSKKAITKKRKT
                     VIKSPTVPEFQLICTNLDELRELITKIENELKDLENSRKKSGKWYHRRQAVKELHSTLI
                     RLLNELLPWEPKLMKAFQRNRSRLKKDYDDFRRQPDHDTFNRELWTTDEGEGDLGKDSP
                     KGEISKSIDSTEPLDILEKDHFDSDDMKLSEIDFPMARSKLLKKELPSKDLPKTLLKTL
                     KRQSKQTDYVDDSTKELSPRKKAKLSTNETTVENLESDVQIDCFSESKHTEPSFPESFA
                     SLDSVPVSTLQKGTKPIQALLAKNIGNKVTLTNQLPPSTGRNALAVEKPVLSPPEASPI
                     KPALTCHTNTKGPLQMVYKMPCGQWLPIDLQNSSVKIQVQPMVDPKTGEKIMQQVLILP
                     KNFVIQHKEGKAVAKEVPPLQQKGTEQHCSSFPQTTNINSSLASVFVNSPGTVSTQLPN
                     TAFNKTITPLSNISSARPQPLSPVTSVSNLLTPSVKTSQSEAGKAKNAVSAATFSLPSA
                     SPTISSTGQPLSSTTTLNGSTNPGSSFNCFAQQTADSSEAKQELKTVCIRDSQSILVRT
                     RGGNTGVVKVQTNPDQNSPNTVSSSSVFTFAPQLQAFLVPKSTTSSSAFSPVAGTTTTS
                     SLSPFSQTPTSVSIPASFAPSMGKNLKLTLGHTTGSGDLGHVIDKTSHMPSSPLKSSIC
                     SSTLLPSTTSSSVSVISISAANFGQNNANIIHTPTKQQQVDYITKSYPVTRSEATAATN
                     GDVISGTPVQKLMLVSAPSILSSGNGTAINMTPALTSTGVSAQKLVFINAPVPSGTSTP
                     TLVAESLKQTLPPPLHKAYVKTPEQPQIVLIPSTVGTPIKINSSPAVSQIKDVKIGLNI
                     GQAIVNTSGTVPAIPSINILQNVTPKGEDKSSKGYILPLSTSGNSVPVSSNFVSQNITP
                     VNESVVSSARAVNVLSVTGANLSLGSFPVTSASASAGAQPPVLVSGNDTSSRIMPILSN
                     RLCSSSLGNTVAISTVKTGHLASSVLISTTQPVVSPKCLTSALQIPVTVALPTPATTSP
                     KIINTVPHSAAVPGATRSVSISKRQSRTSLQFHSPGISTTVPTNVNTNKPQTELSSLST
                     SPGKITNTSNFASLPNQQALVKTPSYSSAPGGTTIHTASAPSNVTSLVGSQFSEPCIQQ
                     KIVINTSTPLAPGTQIMINGTRFIVPPQGLGAGSHVLLISTNPKYGAPLVLNSGQGIQS
                     TPIDNSAQKITLASNNSLSGQPLQHPLRSPTKFINSFGNASSIPTVHTSPQLINTTAKV
                     PVPPPVPTVSLTSVIKSPATLLAKTSLVSAICPSNPPLPSSTSVFHLDPPVKKLLVSPE
                     GAILNTINTPASKVSSLSPSLSQIVVSASRSPASVFPAFQSSGLEKPDRAAS"
     regulatory      7651..7656
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BRD10"
                     /gene_synonym="KIAA2026"
                     /note="hexamer: AATAAA"
     polyA_site      7669
                     /gene="BRD10"
                     /gene_synonym="KIAA2026"
                     /note="major polyA site"
ORIGIN
        1 acgcatgcgc accggggatg gcgacagggc ctctttcttt gcttctctcc acagctcttc
       61 ccagccgggg ggctgagtgc cctccccctt ctctccctgc ccctcccctt tctcccccct
      121 caccgcccag cggggcttct aactgacagt tgtcgccggg ccccgtccgt gcaccgcctc
      181 cttctgcccg tgtcccccgc aggtagaggg gggcgggagg gggtgtgagg gagaggagga
      241 gccggagccg ccgctgcggc cccctccggg gaggggagag gagaaccccc ttcctcctcg
      301 ccccctccca gccccccgct ggcccgggag ggggtggggc gccgaggccg cggcgacccg
      361 gcagggcctg gccggtgaag agcaggcggg cggggtgcgg aggggtgagg ccggcgaggg
      421 ccgtgcgcgc gccgccgccg ggggggaggg gagaggaggg cacctaggct ctcctcttct
      481 ctcccccctc ctcgcgcgcc atgtaacccc gccccgccgg cggtgagctc aagacccccg
      541 cgcgcaccga gccgagccgg cggctgagga gagccaggcc cgatgtggcg ggggctacgc
      601 gccgcggccg agccgtgagg aagcggctcg cgctcacgcg tcccccagca cctcgagcgg
      661 ctgttccaca ccgcccagcc taggcctgcc ggggcatgag tgtgcccggg acgccgggag
      721 cgatggagcc ggctggggag gaagagcggc cgccaccggc ggccgaagga gaggacgacg
      781 aggaggaggt ggcagcggcg gcccagacct cagggccggc ccacggaagg agtgcctcct
      841 cgctggagga cgcggacgat caggaggaag agatggaggc gatggtgatc ggaggcggtt
      901 gctgcaagga gcaggagctg acctacgagc tacagcaggg ctaccgcatc ctgggcgagt
      961 tcctgcagga gaagcaccgg ggcctcaccg ccccctttct gcagcccttg gggggcgttg
     1021 ccaccgcgga ggaggaggtg gcggaagggc cgcgcagcgg gggccggggc ggtcgcgcct
     1081 tcccgcagca gcccggacag ggcatgtgtc tgctgcagat ggaagagaag ttcgccagcg
     1141 gccagtacgg gggcatcacc gagttcgtgg cggacttcag gttgatgctg gagacgtgct
     1201 accgcctgca cggagtggac cactggatct ccaaacaggg ccagaagctg gagatgatgc
     1261 tggagcagaa gttagcgctt ctctctcggc acttgagaga aaagacaacg atagcagtta
     1321 catctagagg ctattatgga ttggaggatg agaagggaac tgcatgtacc tcaacaaggc
     1381 gtcggtcaac accgcgaagt ttggcaggct tgacaagtgg agtttttgaa tctataatgg
     1441 ttcaagtttt gagacaggaa gaacagctga gagcaaaaga agaaaaaagg cttcgggagc
     1501 aggaaagaaa agaagcagaa gaagctagtc aaaaggaaat agaagaatgg gaaagaaaac
     1561 ttctagctca agcagctcca acttgtatgg agaccatgtg ggaaattcca gctattgggc
     1621 atttcctttg tttagctcag caaattctaa atttgccaga aatagtcttt tacgaattgg
     1681 aacgttgtct tctgatgcct cagtgtaatg cttttctatc gaaaataatg acttctctat
     1741 taagtcctcc ccatcgcaga cctaccttac atcgaagacc tactttgcct tataggacct
     1801 gggaagcagc gctgaggcag aaagtacaac agtggtacac tgctgtaggg caaactgaaa
     1861 atcctgataa ctgtgctgaa aaactggggt tgtgtcctca gttttttaaa gttcttggag
     1921 aagttaatcc attggaagaa aaaccttttc acgaactacc tttttaccaa aaagtgtggc
     1981 tacttaaggg tctttgtgac tttgtgtatg aaacacaaaa ggaagttcaa gatgctgtac
     2041 ttggacagcc tatccatgaa tgcagggaag ttattcttgg ttatgattat ttggagaatg
     2101 cttatgtaca ttttccacag ttctgtggtg cagatgtacg gatttataaa cagagaccct
     2161 ttcaggcccc agaatttcca attccaccca ttaaaataca aagagtacct cggattaaat
     2221 tggagaaatt gaagtgtgac tatgttagta caagtaatgg agaacataga tgtagcagag
     2281 atagcctgcc ctcttccttc aagaaagagc aggaaaataa ttttgatcca gcttgctgtc
     2341 ctgctaaaat gatcttggat aatcatgaca tctctgttga aatgggagta aaatccaact
     2401 atgaaattag aattcgcagg ccttgtgaaa ttaaaaaaac tgattgttgt aaagaaaatt
     2461 tagagaaacc aaggagtcca ggggaagtta ctggctttgg agagcctctt agtccaggtg
     2521 aaataaggtt tatagaaaat caggaaaaat acggtgaagc ttccagaata aagattgaac
     2581 ccagtccatt aaaagaaaat actctaaaat cttgccaaat acatgtaaat ggaagtcaca
     2641 gtgatcatcc agaaattaac tgccacaaag ttgtaaggga tattctatta gagcagtcac
     2701 tacagagcca caagaaactc aaactaacta aaatgagggc aaaaaagaag aaaaagaaaa
     2761 aaaagaaatt gaaagatgtt ttgaatgaaa acttacagag aaagcgtgaa ggtcttcatt
     2821 ctcttgcatt caagtcttac aaacctgaga tccagaataa gttattgatc atcaaaaaaa
     2881 aagcaaaaca caagaagcac aaatctggaa aaaaatccgt ctctaaaaaa gcaatcacaa
     2941 agaagaggaa aactgtcata aagtcaccta ctgtaccaga gtttcagctt atttgcacta
     3001 atcttgatga actcagggaa ttaatcacaa aaatcgagaa tgaactcaaa gatctggaaa
     3061 acagtagaaa aaaatcggga aaatggtatc atcggaggca agctgtaaaa gaattacata
     3121 gtacattgat acgtctttta aatgaattgc tgccatggga accaaagtta atgaaggctt
     3181 tccaaagaaa caggagccgc ctgaagaaag actatgatga tttcagaaga caacctgatc
     3241 atgatacatt taatagagaa ctatggacca ctgatgaagg tgaaggagat cttggaaaag
     3301 actctcctaa gggagaaatc agtaagtcta tagactcaac agaacctctg gatatcctgg
     3361 agaaagatca ctttgattca gatgatatga agttgtcaga aatagatttt cctatggcta
     3421 gaagcaagct gttgaaaaag gaattgcctt caaaagactt accgaagaca ctgcttaaaa
     3481 cacttaaacg acagtccaaa caaactgatt atgtggatga cagcacaaaa gagctttctc
     3541 caaggaagaa ggcaaagtta agcacaaatg agacaacagt tgagaatcta gaaagtgatg
     3601 tgcagattga ctgtttcagt gaatcaaagc atacagagcc atcatttcca gagtcatttg
     3661 cctcattgga ttcagtacca gtgtctactc tccagaaagg gaccaaaccc attcaggctt
     3721 tgcttgcaaa gaatattggg aataaagtga ccttaacaaa tcaactgcct ccttccacag
     3781 gtagaaatgc tcttgctgtg gaaaaaccag ttttatctcc tccggaagca agcccgataa
     3841 agccagcatt gacctgccac accaatacaa aaggtccttt acaaatggta tacaaaatgc
     3901 cctgtggcca gtggttgcca atagatcttc aaaatagctc tgtaaagatt caggtgcagc
     3961 ctatggtgga tcctaaaaca ggagaaaaaa tcatgcagca agttcttatt ctgcctaaga
     4021 attttgtgat tcagcataaa gaaggaaaag cagttgcaaa agaagtgcca ccacttcaac
     4081 agaaaggtac agaacaacat tgttcatctt tcccacagac aacaaatata aattcttctt
     4141 tagcatcagt ttttgtcaac tcaccaggaa ctgtttctac ccaactacca aatacagctt
     4201 tcaacaaaac aattacacct ttatcaaata taagtagtgc tagaccacag cctttgtcgc
     4261 ctgtaacctc tgtaagtaac ttattaacac catcagttaa gactagccag agtgaggcag
     4321 gaaaagccaa gaatgcagtt tcagcagcca cattctcctt gcccagtgct tcaccgacca
     4381 tttcctccac aggtcagcct ctgtcatcaa caacaacact aaatgggtct acaaatcctg
     4441 gtagttcctt caactgtttt gcacaacaga ctgctgattc ttctgaagca aagcaagagc
     4501 tgaaaactgt gtgcataaga gattcacagt caattcttgt taggacacga ggtgggaaca
     4561 ctggagttgt aaaagtacag accaacccag atcaaaattc acccaatact gtatcttcaa
     4621 gttcagtttt cacttttgct cctcagctgc aggcatttct ggtgccaaaa tcaacaactt
     4681 cttcctctgc tttttcacct gtagctggaa caactactac atctagtctt tcacctttta
     4741 gccaaacacc aacttctgtt tccattccag ctagctttgc cccatccatg gggaaaaatc
     4801 tcaaacttac attaggccac accactggca gtggtgattt gggccacgtg atagataaaa
     4861 cttcacacat gccctcttct cccttgaagt cctctatttg ttctagtact ctactaccat
     4921 caacaacaag tagttcggta agtgtaatta gcatatcagc agcaaatttt ggacaaaaca
     4981 atgcaaatat tattcatact ccaactaaac agcaacaagt agattatatc acaaaaagtt
     5041 accctgttac aaggtcagaa gcaacagcag caacaaatgg agatgtaatc agtgggactc
     5101 cagttcagaa acttatgctg gtatcagctc catctattct ttcttctggc aatggaactg
     5161 caattaatat gacacctgcg ctgacatcta caggtgtttc tgcccagaaa ttagttttta
     5221 ttaatgcccc agttcctagt ggtacatcaa ccccaactct tgttgcagaa tcattaaaac
     5281 aaactcttcc tcctccattg cataaagcat atgttaagac tccagagcaa ccccaaatag
     5341 tactgattcc gtctacagtg ggcacaccaa taaaaataaa ttcatcacca gctgtgtctc
     5401 agataaagga tgtgaaaatt ggactaaaca taggtcaagc aattgtaaat acttcaggca
     5461 ctgtgccagc tataccatca attaacatat tacaaaatgt aaccccaaaa ggagaagaca
     5521 aaagtagcaa gggctatatt ttgccattgt caacaagtgg taattcagtt ccagtaagct
     5581 caaattttgt gagtcagaat attacccctg ttaatgaatc agtggtttct tcagcaagag
     5641 cagtaaatgt gctttcagtt accggagcaa atttatcttt gggttccttt ccagtgacct
     5701 cagcctctgc ttcagctggg gcacaacctc ctgttttagt cagtggaaat gatacctctt
     5761 caagaattat gcctattttg tcaaatagac tttgctcatc aagtctcgga aacactgtgg
     5821 ctatatcaac tgtgaaaaca ggacaccttg catcatctgt tctgatttca actacacaac
     5881 cagtagtgtc tcctaaatgt ttaacatcag ctttgcaaat tcctgttacg gttgccttac
     5941 ctacacctgc gactacatcc cctaaaataa taaacacagt tccacattcg gcagcagtac
     6001 caggagccac acgttctgta tctatttcta aaagacaatc tcggacttca ctccagttcc
     6061 attcaccagg gatttcaact acagtgccaa caaatgtaaa cacaaataaa cctcaaactg
     6121 aattgtcgtc cctttcaaca agtccaggta aaataactaa tacgtccaat tttgcttctc
     6181 tgccaaatca gcaagcttta gtaaaaaccc ccagttacag ttctgctcca ggtggcacta
     6241 ccattcacac ggcttcggca ccatccaatg taactagtct agtcgggagt cagttcagtg
     6301 aaccttgtat tcagcaaaaa atagtcatca ataccagtac acctttggca cctggtactc
     6361 agattatgat taacggaacc cggtttattg ttccaccaca aggtcttgga gctggcagcc
     6421 atgttctcct tatatctact aatccaaaat atggagcccc cttagttctt aacagtggcc
     6481 aaggcattca atctacacca atagataact ctgcccagaa gatcacacta gcatcaaata
     6541 attccttaag tggccaacct ctacaacatc ctctaagaag ccctacaaaa tttataaact
     6601 cttttgggaa tgcaagttct atacccacag tacatacatc accacaactc ataaacacaa
     6661 ctgctaaggt tcctgttcca cctcctgtac caacagtatc actgacttca gtaattaagt
     6721 ctccagctac tcttttggct aagacatctt tggtttctgc catttgcccc agtaatcctc
     6781 cactgccaag tagcacttca gtgtttcatt tggacccacc tgtcaaaaaa ttgttggtta
     6841 gcccagaagg agccattttg aataccataa atactccagc atctaaggtt tcttcactct
     6901 ctccatctct ctctcagatt gttgtatctg ccagtcgaag tcctgcgtct gtcttccctg
     6961 cttttcagtc gtcgggctta gagaagcctg acagagctgc atcttgaatt tagactaaaa
     7021 gagccagttt ttaaataatg gggcattgtt ttgactccca taaaaatttt caatgtttat
     7081 tatactgttg aaagcatact atacattgtg tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg
     7141 tgtgtgtttt aatgtatctt ttcattagct tgcaacaagg ctttgttttc ttggggaggg
     7201 aaagatctgt tccatttcac ttactgttct gaggagggtt tcaaggttct gtgtttaaag
     7261 tcaggattta cctgtctgta gaacataaag tgaacaaagt ttgaatagtt tagagtaagc
     7321 tagccttttg cacatttaca ttgacatgtt tcttcttgaa tttggactgt tgcagcatat
     7381 ctatgatatg gtattcagtg tcattagtga aatcttattt ttgtttctgt aaaaaaaaaa
     7441 atacatatat atatttatgc attgtgaaaa atgcagtcca tgatgtaaaa ttgtacatat
     7501 tccagaatcc ctaacaacct gtactaaata tatgtacaaa gaactatgct gtcttattta
     7561 tgttttgttt acataatgta tagtttttta agtattttag taattttgga ccagtgaact
     7621 gttagcaaca atgcagaaga atctgcatgt aataaactga gttgctgta
//
LOCUS       NM_001017970            3969 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens transmembrane protein 30B (TMEM30B), mRNA.
ACCESSION   NM_001017970
VERSION     NM_001017970.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3969)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3969)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   3  (bases 1 to 3969)
  AUTHORS   Takatsu H, Baba K, Shima T, Umino H, Kato U, Umeda M, Nakayama K and
            Shin HW.
  TITLE     ATP9B, a P4-ATPase (a putative aminophospholipid translocase),
            localizes to the trans-Golgi network in a CDC50 protein-independent
            manner
  JOURNAL   J Biol Chem 286 (44), 38159-38167 (2011)
   PUBMED   21914794
  REMARK    Erratum:[J Biol Chem. 2015 Jan 9;290(2):886]
REFERENCE   4  (bases 1 to 3969)
  AUTHORS   Bryde S, Hennrich H, Verhulst PM, Devaux PF, Lenoir G and Holthuis
            JC.
  TITLE     CDC50 proteins are critical components of the human class-1
            P4-ATPase transport machinery
  JOURNAL   J Biol Chem 285 (52), 40562-40572 (2010)
   PUBMED   20961850
REFERENCE   5  (bases 1 to 3969)
  AUTHORS   van der Velden LM, Wichers CG, van Breevoort AE, Coleman JA, Molday
            RS, Berger R, Klomp LW and van de Graaf SF.
  TITLE     Heteromeric interactions required for abundance and subcellular
            localization of human CDC50 proteins and class 1 P4-ATPases
  JOURNAL   J Biol Chem 285 (51), 40088-40096 (2010)
   PUBMED   20947505
REFERENCE   6  (bases 1 to 3969)
  AUTHORS   Perez-Magan E, Rodriguez de Lope A, Ribalta T, Ruano Y,
            Campos-Martin Y, Perez-Bautista G, Garcia JF, Garcia-Claver A, Fiano
            C, Hernandez-Moneo JL, Mollejo M and Melendez B.
  TITLE     Differential expression profiling analyses identifies downregulation
            of 1p, 6q, and 14q genes and overexpression of 6p histone cluster 1
            genes as markers of recurrence in meningiomas
  JOURNAL   Neuro Oncol 12 (12), 1278-1290 (2010)
   PUBMED   20685720
  REMARK    GeneRIF: Downregulation of TMEM30B is associated with recurrence in
            meningiomas.
REFERENCE   7  (bases 1 to 3969)
  AUTHORS   Munoz-Martinez F, Torres C, Castanys S and Gamarro F.
  TITLE     CDC50A plays a key role in the uptake of the anticancer drug
            perifosine in human carcinoma cells
  JOURNAL   Biochem Pharmacol 80 (6), 793-800 (2010)
   PUBMED   20510206
REFERENCE   8  (bases 1 to 3969)
  AUTHORS   Katoh Y and Katoh M.
  TITLE     Identification and characterization of CDC50A, CDC50B and CDC50C
            genes in silico
  JOURNAL   Oncol Rep 12 (4), 939-943 (2004)
   PUBMED   15375526
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: SRR7346977.1562182.1,
            SRR7346977.2121866.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000555868.2/ ENSP00000450842.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB220251.1, DB237714.1, BC113559.1, DA666826.1, DA431345.1 and
            AL359220.4.
            On May 17, 2019 this sequence version replaced NM_001017970.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3969
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.1"
     gene            1..3969
                     /gene="TMEM30B"
                     /gene_synonym="CDC50B"
                     /note="transmembrane protein 30B"
                     /db_xref="GeneID:161291"
                     /db_xref="HGNC:HGNC:27254"
                     /db_xref="MIM:611029"
     misc_feature    72..74
                     /gene="TMEM30B"
                     /gene_synonym="CDC50B"
                     /note="upstream in-frame stop codon"
     CDS             192..1247
                     /gene="TMEM30B"
                     /gene_synonym="CDC50B"
                     /note="P4-ATPase flippase complex beta subunit TMEM30B"
                     /codon_start=1
                     /product="cell cycle control protein 50B"
                     /protein_id="NP_001017970.1"
                     /db_xref="CCDS:CCDS32093.1"
                     /db_xref="GeneID:161291"
                     /db_xref="HGNC:HGNC:27254"
                     /db_xref="MIM:611029"
                     /translation="MTWSATARGAHQPDNTAFTQQRLPAWQPLLSASIALPLFFCAGLA
                     FIGLGLGLYYSSNGIKELEYDYTGDPGTGNCSVCAAAGQGRALPPPCSCAWYFSLPELF
                     QGPVYLYYELTNFYQNNRRYGVSRDDAQLSGLPSALRHPVNECAPYQRSAAGLPIAPCG
                     AIANSLFNDSFSLWHQRQPGGPYVEVPLDRSGIAWWTDYHVKFRNPPLVNGSLALAFQG
                     TAPPPNWRRPVYELSPDPNNTGFINQDFVVWMRTAALPTFRKLYARIRQGNYSAGLPRG
                     AYRVNITYNYPVRAFGGHKLLIFSSISWMGGKNPFLGIAYLVVGSLCILTGFVMLVVYI
                     RYQDQDDDDEE"
     misc_feature    291..353
                     /gene="TMEM30B"
                     /gene_synonym="CDC50B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3MIR4.1);
                     transmembrane region"
     misc_feature    414..416
                     /gene="TMEM30B"
                     /gene_synonym="CDC50B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q3MIR4.1); glycosylation site"
     misc_feature    828..830
                     /gene="TMEM30B"
                     /gene_synonym="CDC50B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q3MIR4.1); glycosylation site"
     misc_feature    1047..1049
                     /gene="TMEM30B"
                     /gene_synonym="CDC50B"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q3MIR4.1); glycosylation site"
     misc_feature    1137..1199
                     /gene="TMEM30B"
                     /gene_synonym="CDC50B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3MIR4.1);
                     transmembrane region"
     regulatory      3334..3339
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM30B"
                     /gene_synonym="CDC50B"
                     /note="hexamer: AATAAA"
     polyA_site      3355
                     /gene="TMEM30B"
                     /gene_synonym="CDC50B"
                     /note="major polyA site"
     regulatory      3637..3642
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM30B"
                     /gene_synonym="CDC50B"
                     /note="hexamer: AATAAA"
     polyA_site      3660
                     /gene="TMEM30B"
                     /gene_synonym="CDC50B"
ORIGIN
        1 actgctcgta gggcctggaa ctaaactcac ctgtgacgga ggcagaggag gggcccgggc
       61 aaaaacccac ctgagctggc gggaaacccg acccgcgagc agtccccggg cttgcgcggc
      121 gcggagaggg aggcgccccg cggcggggcc cccactcggt cagcccgcgc gtcggtcccc
      181 gcgcggccgc catgacctgg agcgccacgg cccggggcgc ccaccagccc gacaacaccg
      241 ccttcactca gcagcgcctc cccgcctggc agccgctgct gtcggccagc atcgcgctgc
      301 cgctcttctt ctgcgcgggc ctggccttca tcggcctggg cctgggcctc tactactcct
      361 ccaacggcat caaggagctg gagtacgact atacaggcga cccgggcacc ggtaactgct
      421 cggtgtgcgc cgcggctggc cagggccggg cgctgccgcc cccctgctcg tgcgcctggt
      481 acttctcgct gcccgagctc ttccagggcc cagtgtacct ctactacgag ctgaccaact
      541 tctaccagaa caaccggcgc tacggcgtgt cccgcgacga cgcgcagctg agcggactcc
      601 ccagcgcgct gcgccaccct gtcaacgagt gcgcccccta ccagcgcagc gcggccggcc
      661 tgcccatcgc gccctgcggc gccatcgcca acagcctctt caacgactcc ttctcgcttt
      721 ggcaccagcg ccagcccggc gggccctacg tcgaggtgcc gctcgaccgc tccggcatcg
      781 cctggtggac cgactaccac gtcaagttcc gcaacccgcc gctggtcaac ggcagcctgg
      841 cgttggcctt ccagggcacg gcgcccccgc ccaactggcg ccggccagtc tacgagctca
      901 gccccgaccc caacaacacc ggcttcatca atcaggactt cgtggtgtgg atgcgcacgg
      961 cggcgctgcc cacgttccgc aaactgtacg cgcgcatccg ccagggcaac tactcggccg
     1021 ggctgccgcg gggcgcctac cgcgtcaaca tcacctacaa ctacccggtg cgcgcgttcg
     1081 gcggccacaa gctcctcatc ttcagcagca tctcgtggat gggtggcaag aaccccttcc
     1141 tgggcatcgc ctacctggtc gtcggctccc tctgcatcct caccggcttt gtcatgctgg
     1201 tcgtctacat tcgctaccag gaccaggacg acgacgacga ggagtgattc cggctttcca
     1261 gggatccctc ctgcttcttg ccaaaactct tgcaaggtgc ttttggcatc tcctcctcgc
     1321 ccgtcaccca attccaacct cgcctagctt ttcctccctt tgtgaatgag gggaccagat
     1381 aagggaatta ccccccttgc tcttgggggg ctgctagact gtcttgccgc ggggagggat
     1441 gttgactgca gagtgaaaca tccttgcaaa ctcttcccac ctccttcacg acactgagtt
     1501 gccatgtgag gttcttcaag tctgagagtg gaagggatcc ctatggagac tcctattaaa
     1561 cccctattag aggaagagat tgagagacct agcaatgtga agtaacaaag atcaggcagc
     1621 tgcaagtgac tcctgaatct tgagtccagg gctttcgcca ctacagtaca gtggttttct
     1681 tttctttggt cggggagagt gggctggaat ggagagtgag gcccacaaat tacctgcaga
     1741 gacgtggagg cgtgagggag aacatgcttg ttaaatatgc aggtagatta ggagacacca
     1801 aacagagatt cagacacagt aaggctggga tgagatcctc gaagctgtgt tttaacaaac
     1861 tccactggag agtcccatat tccctcaaat ttgggaatca cgaccctgaa ccaggttggg
     1921 cctgaagcag tcaactgaat tcactttttc ggatagtaat ttgttcccag gggcagtgac
     1981 aaccatgatg ttccaggttt ggtctggcac tctgccttga acgtaggaag ctcttgatga
     2041 tttgtggaat gaatttttaa aaaattacta tctggggaaa actagttggc atacagagtt
     2101 gtaggacagg gtttatgtga ttcatttgat attttagtat tttggtgtaa aagccaacag
     2161 gcaaactttg ccaggtactg tgtagaaact cgaaaatgtg aggccagttt gtacagttca
     2221 gaggaaatgc tttaacgtag aatcagatag ctggaagaga tcttcgaggg aaagtaagtt
     2281 ccctaaagtc acatctatgt ctcctagctc agtgttcttt gtcattgtgt gtgtgtgtgt
     2341 gtgtgtgtgt gtgtgtgtgt gtgattagaa agggcttcat tcataccttt tcccttggac
     2401 ctggaaaaaa aatttttttt atcttttcaa atgaaatcta ttgatttcta gtaatcatat
     2461 ttgaatcaat gttaaagcat atatagtctt atatgtaaac tagattctta agattatttg
     2521 aacctttgag atgaagttta cactcaacta aaatcattcc attgatttta ttgattaaca
     2581 tcaatcagta tgtttaaagt tattctaaga agcaatagtt tatttttaaa aaccttgtat
     2641 agcaaaataa cttaaaaccc tttgtgatat catcttacca gtttatttgg taaaaacaaa
     2701 cagttatttg gtatttgtca gaattcttca gtgcctgcta ttacagctat tttccaatta
     2761 ctaacttgat tatactcact caaggcagtg caagatcttg aagtactttt tagcagttaa
     2821 gtaatattga attgtattga atagtttaca tagtttattc tagtctttga aaattactga
     2881 acatggacaa tgtgcatgtc attgacatct gccttagaac ttctgggaca atcctgattc
     2941 gagagattct atcccattat ttacatatac caaaaatact ttgttaattt aatgtgttgg
     3001 cttcccaact cctgaacacg acacaatttt attattagat tttgtatggt gattttaggc
     3061 tatgaaaaca tgatcattat atgtatatag atacattttt atttgttaca aatgtttgag
     3121 cagctcacta gcccacccct cctctatttt gggtaagaga atttactacc ttttttaact
     3181 atgtagttga gagcaacatg tattttgtta tttttagaat ggtcagtata ttgctataaa
     3241 attttaaatg agactatgaa agttaaagta ttctgattct ggttaaatta acgaatatgg
     3301 ttccaggccc tgttctctgg gtttttgaga gagaataaag gttatgtttg tcttaccttt
     3361 gttatcgagt ttgctgaatt cttttgaacg atgatcttaa aggcacaaac accaccagcc
     3421 actttgctaa tttcttaata gcagatttac attgcagcaa gaaaaccatc ttttatagta
     3481 acattcagtt aaaatgaact caattcattg ttaacttcct aaaacagaat ttgaacttta
     3541 tcaacctcaa cgtgtatata aactagatag tcctcaatac tttatcaacc tcaacatgta
     3601 tataaactag atagtcctca aatactgttt gaatttaata aatgtcaatt taaaaatttt
     3661 tgtagtagtc ttctgcattt tacttcaatt ataaattgca attatttatt ggatattttg
     3721 gacttcaaag cagcagaaac tttaaaactg aaatgggaaa cgttttcctg caatgatccc
     3781 tgtgctgtaa cattttgtct ggtgtctcag gcttccaggt tcttgttggc ctgaattccc
     3841 ttgttgccca gtaaatgttc actagctaga agtatcttca ggaagtgaga tagaaaagag
     3901 tgaacctcaa caattggact ggaaatgagc tttgacctaa ctttgtaaaa taaaagcata
     3961 aaagagaaa
//
LOCUS       NM_001017974            4547 bp    mRNA    linear   PRI 28-MAR-2023
DEFINITION  Homo sapiens prolyl 4-hydroxylase subunit alpha 2 (P4HA2),
            transcript variant 3, mRNA.
ACCESSION   NM_001017974
VERSION     NM_001017974.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4547)
  AUTHORS   Li X, Li Y, Liu B, Chen L, Lyu F, Zhang P, He Q, Cheng L, Liu C,
            Song Y and Xing Y.
  TITLE     P4HA2-mediated HIF-1alpha stabilization promotes
            erdafitinib-resistance in FGFR3-alteration bladder cancer
  JOURNAL   FASEB J 37 (4), e22840 (2023)
   PUBMED   36943397
  REMARK    GeneRIF: P4HA2-mediated HIF-1alpha stabilization promotes
            erdafitinib-resistance in FGFR3-alteration bladder cancer.
REFERENCE   2  (bases 1 to 4547)
  AUTHORS   Wang S, Wu J, Zhao W, Li M and Li S.
  TITLE     CEBPB upregulates P4HA2 to promote the malignant biological behavior
            in IDH1 wildtype glioma
  JOURNAL   FASEB J 37 (4), e22848 (2023)
   PUBMED   36906285
  REMARK    GeneRIF: CEBPB upregulates P4HA2 to promote the malignant biological
            behavior in IDH1 wildtype glioma.
REFERENCE   3  (bases 1 to 4547)
  AUTHORS   Lu XH, Sang D, Zhang YR and Yuan Q.
  TITLE     High expression of prolyl 4-hydroxylase subunit alpha-2 in lung
            adenocarcinoma indicates poor prognosis
  JOURNAL   Clinics (Sao Paulo) 77, 100123 (2022)
   PUBMED   36403427
  REMARK    GeneRIF: High expression of prolyl 4-hydroxylase subunit alpha-2 in
            lung adenocarcinoma indicates poor prognosis. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 4547)
  AUTHORS   Shang L, Jiang W, Zhang J and Wu W.
  TITLE     [P4HA2 promotes occurrence and progression of liver cancer by
            regulating the PI3K/Akt/mTOR signaling pathway]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 42 (5), 665-672 (2022)
   PUBMED   35673909
  REMARK    GeneRIF: [P4HA2 promotes occurrence and progression of liver cancer
            by regulating the PI3K/Akt/mTOR signaling pathway].
REFERENCE   5  (bases 1 to 4547)
  AUTHORS   Zhu M, Peng R, Liang X, Lan Z, Tang M, Hou P, Song JH, Mak CSL, Park
            J, Zheng SE, Huang A, Ma X, Chen R, Chang Q, Logothetis CJ, Jain AK,
            Lin SH, Katayama H, Hanash S and Wang G.
  TITLE     P4HA2-induced prolyl hydroxylation suppresses YAP1-mediated prostate
            cancer cell migration, invasion, and metastasis
  JOURNAL   Oncogene 40 (41), 6049-6056 (2021)
   PUBMED   34471235
  REMARK    GeneRIF: P4HA2-induced prolyl hydroxylation suppresses YAP1-mediated
            prostate cancer cell migration, invasion, and metastasis.
REFERENCE   6  (bases 1 to 4547)
  AUTHORS   Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD and Sanderson
            CM.
  TITLE     Analysis of a high-throughput yeast two-hybrid system and its use to
            predict the function of intracellular proteins encoded within the
            human MHC class III region
  JOURNAL   Genomics 83 (1), 153-167 (2004)
   PUBMED   14667819
REFERENCE   7  (bases 1 to 4547)
  AUTHORS   Kukkola L, Hieta R, Kivirikko KI and Myllyharju J.
  TITLE     Identification and characterization of a third human, rat, and mouse
            collagen prolyl 4-hydroxylase isoenzyme
  JOURNAL   J Biol Chem 278 (48), 47685-47693 (2003)
   PUBMED   14500733
REFERENCE   8  (bases 1 to 4547)
  AUTHORS   Hieta R, Kukkola L, Permi P, Pirila P, Kivirikko KI, Kilpelainen I
            and Myllyharju J.
  TITLE     The peptide-substrate-binding domain of human collagen prolyl
            4-hydroxylases. Backbone assignments, secondary structure, and
            binding of proline-rich peptides
  JOURNAL   J Biol Chem 278 (37), 34966-34974 (2003)
   PUBMED   12824157
  REMARK    GeneRIF: the substrate specificity, binding site and conformation of
            this enzyme
REFERENCE   9  (bases 1 to 4547)
  AUTHORS   Nokelainen M, Nissi R, Kukkola L, Helaakoski T and Myllyharju J.
  TITLE     Characterization of the human and mouse genes for the alpha subunit
            of type II prolyl 4-hydroxylase. Identification of a previously
            unknown alternatively spliced exon and its expression in various
            tissues
  JOURNAL   Eur J Biochem 268 (20), 5300-5309 (2001)
   PUBMED   11606192
REFERENCE   10  (bases 1 to 4547)
  AUTHORS   Annunen P, Helaakoski T, Myllyharju J, Veijola J, Pihlajaniemi T and
            Kivirikko KI.
  TITLE     Cloning of the human prolyl 4-hydroxylase alpha subunit isoform
            alpha(II) and characterization of the type II enzyme tetramer. The
            alpha(I) and alpha(II) subunits do not form a mixed
            alpha(I)alpha(II)beta2 tetramer
  JOURNAL   J Biol Chem 272 (28), 17342-17348 (1997)
   PUBMED   9211872
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.26911.1,
            SRR11853559.26405.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000360568.8/ ENSP00000353772.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU117989.1, BC035813.1 and
            AC063976.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 10, 2019 this sequence version replaced NM_001017974.1.
            Summary: This gene encodes a component of prolyl 4-hydroxylase, a
            key enzyme in collagen synthesis composed of two identical alpha
            subunits and two beta subunits. The encoded protein is one of
            several different types of alpha subunits and provides the major
            part of the catalytic site of the active enzyme. In collagen and
            related proteins, prolyl 4-hydroxylase catalyzes the formation of
            4-hydroxyproline that is essential to the proper three-dimensional
            folding of newly synthesized procollagen chains. Alternatively
            spliced transcript variants encoding different isoforms have been
            described. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 1, and contains an alternate in-frame exon.
            Variants 2-4 and 7-9 all encode isoform 2, which is shorter than
            isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4547
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..4547
                     /gene="P4HA2"
                     /gene_synonym="lncRNA-PE; MYP25"
                     /note="prolyl 4-hydroxylase subunit alpha 2"
                     /db_xref="GeneID:8974"
                     /db_xref="HGNC:HGNC:8547"
                     /db_xref="MIM:600608"
     CDS             83..1684
                     /gene="P4HA2"
                     /gene_synonym="lncRNA-PE; MYP25"
                     /EC_number="1.14.11.2"
                     /note="isoform 2 precursor is encoded by transcript variant
                     3; C-P4Halpha(II); collagen prolyl 4-hydroxylase alpha(II);
                     procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline
                     4-hydroxylase), alpha polypeptide II; 4-PH alpha 2; prolyl
                     4-hydroxylase, alpha polypeptide II;
                     procollagen-proline,2-oxoglutarate-4-dioxygenase subunit
                     alpha-2; lncRNA promotes epithelial-mesenchymal transition"
                     /codon_start=1
                     /product="prolyl 4-hydroxylase subunit alpha-2 isoform 2
                     precursor"
                     /protein_id="NP_001017974.1"
                     /db_xref="CCDS:CCDS34230.1"
                     /db_xref="GeneID:8974"
                     /db_xref="HGNC:HGNC:8547"
                     /db_xref="MIM:600608"
                     /translation="MKLWVSALLMAWFGVLSCVQAEFFTSIGHMTDLIYAEKELVQSLK
                     EYILVEEAKLSKIKSWANKMEALTSKSAADAEGYLAHPVNAYKLVKRLNTDWPALEDLV
                     LQDSAAGFIANLSVQRQFFPTDEDEIGAAKALMRLQDTYRLDPGTISRGELPGTKYQAM
                     LSVDDCFGMGRSAYNEGDYYHTVLWMEQVLKQLDAGEEATTTKSQVLDYLSYAVFQLGD
                     LHRALELTRRLLSLDPSHERAGGNLRYFEQLLEEEREKTLTNQTEAELATPEGIYERPV
                     DYLPERDVYESLCRGEGVKLTPRRQKRLFCRYHHGNRAPQLLIAPFKEEDEWDSPHIVR
                     YYDVMSDEEIERIKEIAKPKLARATVRDPKTGVLTVASYRVSKSSWLEEDDDPVVARVN
                     RRMQHITGLTVKTAELLQVANYGVGGQYEPHFDFSRRPFDSGLKTEGNRLATFLNYMSD
                     VEAGGATVFPDLGAAIWPKKGTAVFWYNLLRSGEGDYRTRHAACPVLVGCKWVSNKWFH
                     ERGQEFLRPCGSTEVD"
     sig_peptide     83..145
                     /gene="P4HA2"
                     /gene_synonym="lncRNA-PE; MYP25"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      2056..2061
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P4HA2"
                     /gene_synonym="lncRNA-PE; MYP25"
                     /note="hexamer: AATAAA"
     polyA_site      2084
                     /gene="P4HA2"
                     /gene_synonym="lncRNA-PE; MYP25"
                     /note="major polyA site"
     regulatory      2814..2819
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P4HA2"
                     /gene_synonym="lncRNA-PE; MYP25"
                     /note="hexamer: AATACA"
     polyA_site      2847
                     /gene="P4HA2"
                     /gene_synonym="lncRNA-PE; MYP25"
     regulatory      3700..3705
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P4HA2"
                     /gene_synonym="lncRNA-PE; MYP25"
                     /note="hexamer: AATAAA"
     polyA_site      3719
                     /gene="P4HA2"
                     /gene_synonym="lncRNA-PE; MYP25"
     regulatory      4527..4532
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P4HA2"
                     /gene_synonym="lncRNA-PE; MYP25"
                     /note="hexamer: ATTAAA"
     polyA_site      4547
                     /gene="P4HA2"
                     /gene_synonym="lncRNA-PE; MYP25"
ORIGIN
        1 gcgccgagct gaccgggcga cgccgcggga ggttctggaa acgccgggag ctgcgagtgt
       61 ccagacactt ccctctgtga ccatgaaact ctgggtgtct gcattgctga tggcctggtt
      121 tggtgtcctg agctgtgtgc aggccgaatt cttcacctct attgggcaca tgactgacct
      181 gatttatgca gagaaagagc tggtgcagtc tctgaaagag tacatccttg tggaggaagc
      241 caagctttcc aagattaaga gctgggccaa caaaatggaa gccttgacta gcaagtcagc
      301 tgctgatgct gagggctacc tggctcaccc tgtgaatgcc tacaaactgg tgaagcggct
      361 aaacacagac tggcctgcgc tggaggacct tgtcctgcag gactcagctg caggttttat
      421 cgccaacctc tctgtgcagc ggcagttctt ccccactgat gaggacgaga taggagctgc
      481 caaagccctg atgagacttc aggacacata caggctggac ccaggcacaa tttccagagg
      541 ggaacttcca ggaaccaagt accaggcaat gctgagtgtg gatgactgct ttgggatggg
      601 ccgctcggcc tacaatgaag gggactatta tcatacggtg ttgtggatgg agcaggtgct
      661 aaagcagctt gatgccgggg aggaggccac cacaaccaag tcacaggtgc tggactacct
      721 cagctatgct gtcttccagt tgggtgatct gcaccgtgcc ctggagctca cccgccgcct
      781 gctctccctt gacccaagcc acgaacgagc tggagggaat ctgcggtact ttgagcagtt
      841 attggaggaa gagagagaaa aaacgttaac aaatcagaca gaagctgagc tagcaacccc
      901 agaaggcatc tatgagaggc ctgtggacta cctgcctgag agggatgttt acgagagcct
      961 ctgtcgtggg gagggtgtca aactgacacc ccgtagacag aagaggcttt tctgtaggta
     1021 ccaccatggc aacagggccc cacagctgct cattgccccc ttcaaagagg aggacgagtg
     1081 ggacagcccg cacatcgtca ggtactacga tgtcatgtct gatgaggaaa tcgagaggat
     1141 caaggagatc gcaaaaccta aacttgcacg agccaccgtt cgtgatccca agacaggagt
     1201 cctcactgtc gccagctacc gggtttccaa aagctcctgg ctagaggaag atgatgaccc
     1261 tgttgtggcc cgagtaaatc gtcggatgca gcatatcaca gggttaacag taaagactgc
     1321 agaattgtta caggttgcaa attatggagt gggaggacag tatgaaccgc acttcgactt
     1381 ctctaggcga ccttttgaca gcggcctcaa aacagagggg aataggttag cgacgtttct
     1441 taactacatg agtgatgtag aagctggtgg tgccaccgtc ttccctgatc tgggggctgc
     1501 aatttggcct aagaagggta cagctgtgtt ctggtacaac ctcttgcgga gcggggaagg
     1561 tgactaccga acaagacatg ctgcctgccc tgtgcttgtg ggctgcaagt gggtctccaa
     1621 taagtggttc catgaacgag gacaggagtt cttgagacct tgtggatcaa cagaagttga
     1681 ctgacatcct tttctgtcct tccccttcct ggtccttcag cccatgtcaa cgtgacagac
     1741 acctttgtat gttcctttgt atgttcctat caggctgatt tttggagaaa tgaatgtttg
     1801 tctggagcag agggagacca tactagggcg actcctgtgt gactgaagtc ccagcccttc
     1861 cattcagcct gtgccatccc tggccccaag gctaggatca aagtggctgc agcagagtta
     1921 gctgtctagc gcctagcaag gtgcctttgt acctcaggtg ttttaggtgt gagatgtttc
     1981 agtgaaccaa agttctgata ccttgtttac atgtttgttt ttatggcatt tctatctatt
     2041 gtggctttac caaaaaataa aatgtcccta ccagaagcct taaagagcct tacttggagt
     2101 atttttaaga ctggaagctt ttaccaggtt catcatttcc tatgcatcac cttcatgcag
     2161 gcagagtctg gataatgaat gctttagcag caaaaaagca tcttgggtct tggatttcag
     2221 acctggtttc aacacttgtg ttccctctaa gtgtcagtgt ccttttctgg aaagtagggt
     2281 aaatagtttc tctttgtctc ccagagaaca tagcacatgt gttcatgatt gtaatgctgt
     2341 tataatgtgt acttcatttt taaattttga gataagaatt gttcatgata cacagatgta
     2401 tacttaaaaa aatatgaagg tgagcaggag cacctgtgtc aacaccaagt tagaaaagag
     2461 aacgttttca agtcagtacc tcaggagccc cttgggaacc cctcctagat cacatctcct
     2521 tcactgcccc cagcactttg gagataaatc attgtctcat gatgtgtggt actcattcct
     2581 ttgcttgtct ttatagtttt accatctatg attagatccc taaataagta gttattctgt
     2641 tttccctgat tttgaacttt tactaataga atgagagtaa atatttttgg gtatgtggct
     2701 tcttttgttc aacattgttt taagattcat ccgtgttgct tgtgtagctg taatttgttt
     2761 taatctttat agtacattca gttttgttaa tgcttattgt aggactgtac cataatacag
     2821 gcagcatgct gctgataaac actggaattg atttcagtct ttgtatattg tgaataatgc
     2881 tgtgataaac atttttatac atgattcctg gtgcacatat aaacacatat ttctgtagga
     2941 tatatatcta ggagtggaaa tgtggagtct taatggtgtt ccaactttac taaataatgt
     3001 attccaaggt ggttatacac attctcacca ggagtaaatg agagttatta ccccaatctt
     3061 ttccagtatt tagtattttc atacttttga attttagcta gcttggtaca tgttacggac
     3121 taaatgtttg tgtcccccca ccagattcat atgttgaaat cttttttttt tttttttttt
     3181 ttgagacgga gtctcgctct gtcgcccagg ctggagtgca gtggcgggat ctcggctcac
     3241 tgcaagctcc gcctcccggg ttcacgccat tctcctgcct cagcctccca agtagctggg
     3301 actacaggcg cccgccacta cgcccggcta attttttgta tttttagtag agacggggtt
     3361 tcaccgtttt agccgggatg gtctcgatct cctgacctcg tgatccgccc gcctcggcct
     3421 cccaaagtgc tgggattaca ggcgtgagcc accgcgcccg gcccatatgt tgaaatctta
     3481 acccccaatg tgatgatatt aggatgcgga gcccttggga ggtcgtaagc atggagccca
     3541 cgtgagtggg attagtgccc ttatgaagag atcccagccc tctttctgcc atgcgaacac
     3601 acagcaagaa gatgcctgtc tatgaaccag ggggccctta ccagaaacaa acctactagc
     3661 atcttgatct cggactttcc agttcccata accatgagaa ataaatgttt ttaattcaat
     3721 gtatggtatt ttattatagc agctctacct aagacagtac atgtatagtg tctatttgaa
     3781 cattactgat aatgttgaac aacttttcat gtttattagt tattaggttt cttcaagtgt
     3841 tcttattcat acaaatttta aaatatgtac acaagttctt tgttatatat tttgcaaata
     3901 tcttctgtgg cttgtctttt cactatttta gttctgtctt ttgataaaca ggagctttta
     3961 atttttatgt caaatctatc aagctttttc tttttgattt atgtttttta tgtcttattt
     4021 gagaaatcct tctatacccc aagatcatga ggatgtttcc tgtgttctct tctgaaagct
     4081 atatagtctt tgtcatttag gtttatcttt atacgtggta tgaagtgtaa agttctactt
     4141 ttaatttttt gcatatttta ttaggatagg atgggctttt tctgtagtaa taatccttaa
     4201 atctcagggg cttaatatat aaaattgtct catgcaaaaa accactgggt ctagggcaat
     4261 tgctatctac tgccgtctaa tctccctcta gtggcttcca ttggtagacc ctaacaggaa
     4321 gccagctgat aagggaatct gggaaatgta gtttacagag tggcagctac agtagaacag
     4381 tagagactac aaggatgagc ttgcagctga gaatagaaac gtgactggca cactaggtgg
     4441 tttgtttgta ggttttttct tttcctgttt gagacttttt tggattcttg aatttgtaca
     4501 atggtatcct taatcaattg tggaaaatta aatgattttt tctttca
//
LOCUS       NM_001017975            4899 bp    mRNA    linear   PRI 17-SEP-2023
DEFINITION  Homo sapiens helicase for meiosis 1 (HFM1), transcript variant 1,
            mRNA.
ACCESSION   NM_001017975
VERSION     NM_001017975.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4899)
  AUTHORS   Yu L, Li M, Zhang H, He Q, Wan F, Zhang C and Wang F.
  TITLE     Novel pathogenic splicing variants in helicase for meiosis 1 (HFM1)
            are associated with diminished ovarian reserve and poor pregnancy
            outcomes
  JOURNAL   J Assist Reprod Genet 39 (9), 2135-2141 (2022)
   PUBMED   35881270
  REMARK    GeneRIF: Novel pathogenic splicing variants in helicase for meiosis
            1 (HFM1) are associated with diminished ovarian reserve and poor
            pregnancy outcomes.
REFERENCE   2  (bases 1 to 4899)
  AUTHORS   Xie X, Murtaza G, Li Y, Zhou J, Ye J, Khan R, Jiang L, Khan I,
            Zubair M, Yin H, Jiang H, Liu W, Shi B, Hou X, Gong C, Fan S, Wang
            Y, Jiang X, Zhang Y, Zhang H, Ma H and Shi Q.
  TITLE     Biallelic HFM1 variants cause non-obstructive azoospermia with
            meiotic arrest in humans by impairing crossover formation to varying
            degrees
  JOURNAL   Hum Reprod 37 (7), 1664-1677 (2022)
   PUBMED   35526155
  REMARK    GeneRIF: Biallelic HFM1 variants cause non-obstructive azoospermia
            with meiotic arrest in humans by impairing crossover formation to
            varying degrees.
REFERENCE   3  (bases 1 to 4899)
  AUTHORS   Saebnia N, Ebrahimzadeh-Vesal R, Haddad-Mashhadrizeh A,
            Gholampour-Faroji N, Schinzel A, Neshati Z and Azimi-Nezhad M.
  TITLE     Identification of a new splice-acceptor mutation in HFM1 and
            functional analysis through molecular docking in nonobstructive
            azoospermia
  JOURNAL   J Assist Reprod Genet 39 (5), 1195-1203 (2022)
   PUBMED   35486194
  REMARK    GeneRIF: Identification of a new splice-acceptor mutation in HFM1
            and functional analysis through molecular docking in nonobstructive
            azoospermia.
REFERENCE   4  (bases 1 to 4899)
  AUTHORS   Tang D, Lv M, Gao Y, Cheng H, Li K, Xu C, Geng H, Li G, Shen Q, Wang
            C, He X and Cao Y.
  TITLE     Novel variants in helicase for meiosis 1 lead to male infertility
            due to non-obstructive azoospermia
  JOURNAL   Reprod Biol Endocrinol 19 (1), 129 (2021)
   PUBMED   34429122
  REMARK    GeneRIF: Novel variants in helicase for meiosis 1 lead to male
            infertility due to non-obstructive azoospermia. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 4899)
  AUTHORS   Zhe J, Chen S, Chen X, Liu Y, Li Y, Zhou X and Zhang J.
  TITLE     A novel heterozygous splice-altering mutation in HFM1 may be a cause
            of premature ovarian insufficiency
  JOURNAL   J Ovarian Res 12 (1), 61 (2019)
   PUBMED   31279343
  REMARK    GeneRIF: A novel heterozygous missense mutation in HFM1 (c.3470G >
            A) associated with premature ovarian insufficiency (POI) is in the
            affected family members and absent in the unaffected family members
            in China. Results of the minigene assay reveals that the mutation
            changes the mRNA splicing repertory. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4899)
  AUTHORS   Pu D, Wang C, Cao J, Shen Y, Jiang H, Liu J, Wu BL, Zhang W and Wu
            J.
  TITLE     Association analysis between HFM1 variation and primary ovarian
            insufficiency in Chinese women
  JOURNAL   Clin Genet 89 (5), 597-602 (2016)
   PUBMED   26679638
  REMARK    GeneRIF: Data suggest that HFM1 gene might be associated with
            primary ovarian insufficiency in Chinese population.
REFERENCE   7  (bases 1 to 4899)
  AUTHORS   Wang J, Zhang W, Jiang H and Wu BL.
  CONSRTM   Primary Ovarian Insufficiency Collaboration
  TITLE     Mutations in HFM1 in recessive primary ovarian insufficiency
  JOURNAL   N Engl J Med 370 (10), 972-974 (2014)
   PUBMED   24597873
  REMARK    GeneRIF: Exome sequencing of two Chinese sisters with primary
            ovarian insufficiency and their parents identified a shared compound
            heterozygous mutation in a meiotic gene, HFM1, which encodes a
            protein necessary for homologous recombination of chromosomes.
REFERENCE   8  (bases 1 to 4899)
  AUTHORS   Guiraldelli MF, Eyster C, Wilkerson JL, Dresser ME and Pezza RJ.
  TITLE     Mouse HFM1/Mer3 is required for crossover formation and complete
            synapsis of homologous chromosomes during meiosis
  JOURNAL   PLoS Genet 9 (3), e1003383 (2013)
   PUBMED   23555294
REFERENCE   9  (bases 1 to 4899)
  AUTHORS   Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanche H, Schreiber
            S and Nebel A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat Res 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10  (bases 1 to 4899)
  AUTHORS   Tanaka K, Miyamoto N, Shouguchi-Miyata J and Ikeda JE.
  TITLE     HFM1, the human homologue of yeast Mer3, encodes a putative DNA
            helicase expressed specifically in germ-line cells
  JOURNAL   DNA Seq 17 (3), 242-246 (2006)
   PUBMED   17286053
  REMARK    GeneRIF: hHFM1 is the evolutionally conserved putative human DNA
            helicase, which may function as a modulator for genome integrity in
            germ-line tissues.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB204867.1, SRR18074967.2873938.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370425.8/ ENSP00000359454.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC098691.2 and BX323048.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 3, 2020 this sequence version replaced NM_001017975.5.
            Summary: The protein encoded by this gene is thought to be an
            ATP-dependent DNA helicase and is expressed mainly in germ-line
            cells. Defects in this gene are a cause of premature ovarian
            failure 9 (POF9). [provided by RefSeq, Apr 2014].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4899
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.2"
     gene            1..4899
                     /gene="HFM1"
                     /gene_synonym="helicase; MER3; POF9; SEC63D1; Si-11;
                     Si-11-6"
                     /note="helicase for meiosis 1"
                     /db_xref="GeneID:164045"
                     /db_xref="HGNC:HGNC:20193"
                     /db_xref="MIM:615684"
     CDS             68..4375
                     /gene="HFM1"
                     /gene_synonym="helicase; MER3; POF9; SEC63D1; Si-11;
                     Si-11-6"
                     /EC_number="3.6.4.12"
                     /note="helicase-like protein HFM1; SEC63 domain-containing
                     protein 1; HFM1, ATP dependent DNA helicase homolog"
                     /codon_start=1
                     /product="probable ATP-dependent DNA helicase HFM1"
                     /protein_id="NP_001017975.5"
                     /db_xref="CCDS:CCDS30769.2"
                     /db_xref="GeneID:164045"
                     /db_xref="HGNC:HGNC:20193"
                     /db_xref="MIM:615684"
                     /translation="MLKSNDCLFSLENLFFEKPDEVENHPDNEKSLDWFLPPAPLISEI
                     PDTQELEEELESHKLLGQEKRPKMLTSNLKITNEDTNYISLTQKFQFAFPSDKYEQDDL
                     NLEGVGNNDLSHIAGKLTYASQKYKNHIGTEIAPEKSVPDDTKLVNFAEDKGESTSVFR
                     KRLFKISDNIHGSAYSNDNELDSHIGSVKIVQTEMNKGKSRNYSNSKQKFQYSANVFTA
                     NNAFSASEIGEGMFKAPSFSVAFQPHDIQEVTENGLGSLKAVTEIPAKFRSIFKEFPYF
                     NYIQSKAFDDLLYTDRNFVICAPTGSGKTVVFELAITRLLMEVPLPWLNIKIVYMAPIK
                     ALCSQRFDDWKEKFGPIGLNCKELTGDTVMDDLFEIQHAHIIMTTPEKWDSMTRKWRDN
                     SLVQLVRLFLIDEVHIVKDENRGPTLEVVVSRMKTVQSVSQTLKNTSTAIPMRFVAVSA
                     TIPNAEDIAEWLSDGERPAVCLKMDESHRPVKLQKVVLGFPCSSNQTEFKFDLTLNYKI
                     ASVIQMYSDQKPTLVFCATRKGVQQAASVLVKDAKFIMTVEQKQRLQKYAYSVRDSKLR
                     DILKDGAAYHHAGMELSDRKVVEGAFTVGDLPVLFTTSTLAMGVNLPAHLVVIKSTMHY
                     AGGLFEEYSETDILQMIGRAGRPQFDTTATAVIMTRLSTRDKYIQMLACRDTVESSLHR
                     HLIEHLNAEIVLHTITDVNIAVEWIRSTLLYIRALKNPSHYGFASGLNKDGIEAKLQEL
                     CLKNLNDLSSLDLIKMDEGVNFKPTEAGRLMAWYYITFETVKKFYTISGKETLSDLVTL
                     IAGCKEFLDIQLRINEKKTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIP
                     IQDFALTQDTAKIFRHGSRITRWLSDFVAAQEKKFAVLLNSLILAKCFRCKLWENSLHV
                     SKQLEKIGITLSNAIVNAGLTSFKKIEETDARELELILNRHPPFGTQIKETVMYLPKYE
                     LKVEQITRYSDTTAEILVTVILRNFEQLQTKRTASDSHYVTLIIGDADNQVVYLHKITD
                     SVLLKAGSWAKKIAVKRALKSEDLSINLISSEFVGLDIQQKLTVFYLEPKRFGNQITMQ
                     RKSETQISHSKHSDISTIAGPNKGTTASKKPGNRECNHLCKSKHTCGHDCCKIGVAQKS
                     EIKESTISSYLSDLRNRNAVSSVPPVKRLKIQMNKSQSVDLKEFGFTPKPSLPSISRSE
                     YLNISELPIMEQWDQPEIYGKVRQEPSEYQDKEVLNVNFELGNEVWDDFDDENLEVTSF
                     STDTEKTKISGFGNTLSSSTRGSKLPLQESKSKFQREMSNSFVSSHEMSDISLSNSAMP
                     KFSASSMTKLPQQAGNAVIVHFQERKPQNLSPEIEKQCFTFSEKNPNSSNYKKVDFFIR
                     NSECKKEVDFSMYHPDDEADEMKSLLGIFDGIF"
     misc_feature    1298..1309
                     /gene="HFM1"
                     /gene_synonym="helicase; MER3; POF9; SEC63D1; Si-11;
                     Si-11-6"
                     /note="propagated from UniProtKB/Swiss-Prot (A2PYH4.2);
                     Region: DEAH box"
     misc_feature    3392..3484
                     /gene="HFM1"
                     /gene_synonym="helicase; MER3; POF9; SEC63D1; Si-11;
                     Si-11-6"
                     /note="propagated from UniProtKB/Swiss-Prot (A2PYH4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3950..4012
                     /gene="HFM1"
                     /gene_synonym="helicase; MER3; POF9; SEC63D1; Si-11;
                     Si-11-6"
                     /note="propagated from UniProtKB/Swiss-Prot (A2PYH4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4877..4882
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HFM1"
                     /gene_synonym="helicase; MER3; POF9; SEC63D1; Si-11;
                     Si-11-6"
                     /note="hexamer: AATAAA"
     polyA_site      4899
                     /gene="HFM1"
                     /gene_synonym="helicase; MER3; POF9; SEC63D1; Si-11;
                     Si-11-6"
                     /note="major polyA site"
ORIGIN
        1 aaatcggcgc tcgactggcc taggagctgt ccgcagggag atttatgaca aagtccagtt
       61 ttcaacaatg ctgaaatcaa atgattgcct gttttctttg gaaaatttgt tttttgaaaa
      121 accagatgaa gttgaaaacc atccagacaa tgaaaagtca ttggattggt ttctccctcc
      181 tgctccattg atttcagaaa ttccagatac tcaggagtta gaggaagaat tagaaagtca
      241 taaactgtta ggtcaggaaa agaggccaaa aatgttaaca tcaaatttaa agataactaa
      301 tgaagataca aattatattt cactaacaca aaaattccag tttgcctttc cttctgataa
      361 atatgaacag gatgatctaa atttagaagg ggtaggtaat aatgacttat cacatattgc
      421 tggcaagctg acatatgctt ctcagaaata taaaaatcac attggcactg agatagcacc
      481 tgagaagagt gttcctgatg atacaaaatt agttaatttt gcagaagata aaggagagag
      541 cacatcagta ttccggaaaa gattatttaa aatatctgac aatatacatg ggagtgctta
      601 ttctaatgac aatgaattgg actctcacat tggctcagtg aaaattgtac aaacagaaat
      661 gaacaaaggg aaatcaagga actatagcaa tagtaagcaa aaatttcagt attctgcaaa
      721 tgtgtttaca gcaaataatg ctttttctgc ttctgaaatc ggagaaggca tgttcaaagc
      781 accatctttt tcagttgctt tccaacctca tgatattcaa gaggtaacag aaaatggttt
      841 aggttccttg aaggctgtca cagaaattcc ggcaaaattt agaagtattt tcaaagaatt
      901 tccatatttc aactatatac agtccaaggc ctttgatgat cttctttaca cagataggaa
      961 ttttgtgatt tgtgctccaa ctggttctgg aaaaactgta gtgtttgaac tagctataac
     1021 aagattgtta atggaagtac cattgccatg gttgaatatt aaaattgttt acatggcacc
     1081 aataaaagcc ttgtgcagtc agcgttttga tgactggaaa gaaaaatttg gaccaatagg
     1141 attgaattgt aaagaactta ctggagatac agtaatggat gatctatttg agattcagca
     1201 tgcccatatt attatgacaa ctccagaaaa atgggatagc atgactagga aatggagaga
     1261 caactctttg gttcagctgg ttcgactgtt tctcattgat gaggtacata ttgtaaaaga
     1321 tgaaaatcgt ggtccaactc ttgaagttgt agttagcaga atgaaaactg tacagtctgt
     1381 ttctcagact ttaaaaaata ccagcactgc tattccaatg cgatttgtag ctgtatctgc
     1441 aacaattcca aatgctgagg atattgcaga atggctttca gatggtgaaa gaccagctgt
     1501 gtgtctgaaa atggatgaga gccatagacc agtgaaactt cagaaagtgg tccttggatt
     1561 tccctgcagt agtaaccaaa ctgagtttaa gtttgattta accctcaact acaaaattgc
     1621 cagtgttata caaatgtact ctgatcagaa acccacactt gtgttttgtg caacaaggaa
     1681 gggtgtgcaa caggctgctt ctgttcttgt gaaagatgct aaatttatta tgactgtgga
     1741 acagaaacag aggttacaga agtatgcata ttccgtaaga gattcaaaac tgagagatat
     1801 cttaaaagat ggtgctgctt atcatcatgc tggtatggag ctgtcagata gaaaagtagt
     1861 tgagggagct tttactgttg gagatttacc agttcttttt actaccagta ctttagctat
     1921 gggagtaaat ttgcctgctc acctagtagt tataaaatct acaatgcatt atgctggagg
     1981 actgtttgaa gagtacagtg aaacagatat tctacagatg attggtagag ctggtcgacc
     2041 tcaatttgac actacagcta ctgcagttat catgactcga ttaagcacaa gggacaagta
     2101 cattcagatg ttagcttgta gagacactgt agaaagcagt ttgcacagac atcttattga
     2161 acatttaaat gcagagatag tactgcatac catcacggat gtgaatattg ctgtggaatg
     2221 gatacgatca actctgcttt atatcagagc cttgaaaaat ccatctcatt atggttttgc
     2281 atctggattg aacaaagatg gaattgaagc aaaattacaa gaattatgtt tgaagaatct
     2341 gaatgattta tcatccctgg acttaataaa gatggatgaa ggtgttaatt tcaaaccaac
     2401 tgaagcagga agattgatgg cttggtatta tattacattt gagacagtga agaaatttta
     2461 tacaatcagt ggaaaagaaa ccttatcaga tctggttaca ttgatagctg gctgcaagga
     2521 atttctagat atacagttaa ggataaatga aaagaaaaca ctgaatactt tgaacaaaga
     2581 tccaaatcgg ataactatca gatttccaat ggaaggaaga attaaaacaa gagaaatgaa
     2641 agtaaattgt cttattcagg ctcaactagg atgcattccc atacaagatt ttgctttgac
     2701 acaagatacc gcaaagattt tcagacatgg ctcccgaatt acaagatggt tgtcagattt
     2761 tgtagctgct caagaaaaga agtttgctgt actattgaat agtttgattt tagctaaatg
     2821 ttttaggtgt aaactttggg aaaactctct gcatgtatcc aaacaactgg aaaaaattgg
     2881 tataacattg tcaaatgcaa tcgtaaatgc tggtttgact tcctttaaaa aaatagaaga
     2941 gacagatgca agggaacttg aattgatttt aaacagacat cccccctttg gaacccagat
     3001 aaaagaaact gtgatgtatc taccaaaata tgaacttaaa gtggaacaga ttacaagata
     3061 tagtgatacg acggcagaaa tattagtgac tgttatatta agaaattttg aacagctaca
     3121 aactaaaaga acagcatcgg attctcacta tgttacctta atcataggtg acgcagataa
     3181 tcaagtagtt tatctgcaca agattacgga ttctgttttg ctaaaagctg gaagttgggc
     3241 taaaaagatt gctgtgaaaa gagctcttaa atctgaagat cttagcataa atctaataag
     3301 ttctgaattt gttgggcttg atattcagca gaaacttaca gtcttttact tagaacccaa
     3361 gaggtttgga aatcaaatca ctatgcaaag aaaatctgaa acacagattt cccattctaa
     3421 acattcagac atatctacaa tagcaggacc taataaagga acgactgcca gcaaaaaacc
     3481 tgggaaccga gaatgcaatc atctttgtaa aagtaaacat acatgtggac atgactgctg
     3541 taaaattgga gttgcacaga agtcagaaat taaagagtca acaatttctt catatttatc
     3601 tgatttaaga aacaggaatg ctgtttcatc tgttcctcca gttaaacgtc tgaagataca
     3661 gatgaataaa tctcaaagtg tggaccttaa agagtttggt tttactccaa aaccttccct
     3721 tcctagtata tcaaggtcag aatatttaaa catatctgaa ttgcctataa tggagcagtg
     3781 ggatcagcct gaaatctatg gaaaagttag acaagaacca tctgaatatc aagacaaaga
     3841 agttttgaat gtgaactttg aattgggaaa tgaagtttgg gatgattttg atgatgaaaa
     3901 cttagaagtt actagctttt caactgatac tgagaagaca aaaatatcag gatttggaaa
     3961 cactttgagt tcaagtacca ggggaagtaa gctacccctt caagagtcaa agagcaaatt
     4021 ccaaagagaa atgtcaaaca gttttgtttc atcacatgag atgtcggata tttctttatc
     4081 aaattctgct atgcccaagt tcagtgcatc ctccatgaca aaattacctc aacaagccgg
     4141 aaatgcagtt attgtccatt ttcaagaaag aaaaccacaa aatctgtcac cagagattga
     4201 gaagcaatgc tttactttct ctgaaaaaaa cccaaattct tcaaattata aaaaagtgga
     4261 tttttttatt agaaacagtg aatgtaaaaa ggaagttgat ttcagtatgt atcatcctga
     4321 tgatgaagct gatgaaatga agtctttatt gggaatattt gatggtattt tctaaaacaa
     4381 acaaatactt tttatattga taagagaaag aataaagaca cctaatcaca aagcatgctt
     4441 tttattttta aaaagtagtt cataattgtt cggatttttt tctcctgtat ttgattagct
     4501 ttgttcactt tttgcaacaa aatgtatggg ccgatttatt ttcccattat attgtaactt
     4561 cttgaaaagc tcttttacag tggctttgtt tcaataagcc cttaagttaa gggctgattg
     4621 cacttagaaa taagttgcac ttagaaataa ttatttggct attaattgga ttttgacaag
     4681 aaccaatgta aaatttcatt tttatatttt cttaacaaga agaaaaatat tctatgaaag
     4741 caaagtaatg ctaacttaat gaatctgctt attgtatgga ttaatcacta atattattcc
     4801 catgtatttt gttttactaa agatttttaa gaatccagtg gctatttgaa cctactgtta
     4861 tctaactttg agcaacaata aatgaaacat taatcagta
//
LOCUS       NM_001017978             517 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens cancer/testis antigen 83 (CT83), mRNA.
ACCESSION   NM_001017978
VERSION     NM_001017978.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 517)
  AUTHORS   Kang Y, Gan Y, Jiang Y, You J, Huang C, Chen Q, Xu X, Chen F and
            Chen L.
  TITLE     Cancer-testis antigen KK-LC-1 is a potential biomarker associated
            with immune cell infiltration in lung adenocarcinoma
  JOURNAL   BMC Cancer 22 (1), 834 (2022)
   PUBMED   35907786
  REMARK    GeneRIF: Cancer-testis antigen KK-LC-1 is a potential biomarker
            associated with immune cell infiltration in lung adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 517)
  AUTHORS   Wang Y, Zhang G and Wang R.
  TITLE     Six CT83-related Genes-based Prognostic Signature for Lung
            Adenocarcinoma
  JOURNAL   Comb Chem High Throughput Screen 25 (9), 1565-1575 (2022)
   PUBMED   34259140
  REMARK    GeneRIF: Six CT83-related Genes-based Prognostic Signature for Lung
            Adenocarcinoma.
REFERENCE   3  (bases 1 to 517)
  AUTHORS   Chen C, Gao D, Huo J, Qu R, Guo Y, Hu X and Luo L.
  TITLE     Multiomics analysis reveals CT83 is the most specific gene for
            triple negative breast cancer and its hypomethylation is oncogenic
            in breast cancer
  JOURNAL   Sci Rep 11 (1), 12172 (2021)
   PUBMED   34108519
  REMARK    GeneRIF: Multiomics analysis reveals CT83 is the most specific gene
            for triple negative breast cancer and its hypomethylation is
            oncogenic in breast cancer. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 517)
  AUTHORS   Ji J, Chen J, Wang A, Zhang W, Ju H, Liu Y and Li L.
  TITLE     KK-LC-1 may be an effective prognostic biomarker for gastric cancer
  JOURNAL   BMC Cancer 21 (1), 267 (2021)
   PUBMED   33711953
  REMARK    GeneRIF: KK-LC-1 may be an effective prognostic biomarker for
            gastric cancer. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 517)
  AUTHORS   Chen Z, Zuo X, Pu L, Zhang Y, Han G, Zhang L, Wu Z, You W, Qin J,
            Dai X, Shen H, Wang X and Wu J.
  TITLE     Hypomethylation-mediated activation of cancer/testis antigen KK-LC-1
            facilitates hepatocellular carcinoma progression through activating
            the Notch1/Hes1 signalling
  JOURNAL   Cell Prolif 52 (3), e12581 (2019)
   PUBMED   30895661
  REMARK    GeneRIF: We defined the KK-LC-1/presenilin-1/Notch1/Hes1 as a novel
            signalling pathway that was involved in the growth and metastasis of
            hepatocellular carcinoma.
REFERENCE   6  (bases 1 to 517)
  AUTHORS   Fukuyama T, Futawatari N, Ichiki Y, Shida A, Yamazaki T, Nishi Y,
            Nonoguchi H, Takahashi Y, Yamazaki H and Kobayashi N.
  TITLE     Correlation Between Expression of the Cancer/Testis Antigen KK-LC-1
            and Helicobacter pylori Infection in Gastric Cancer
  JOURNAL   In Vivo 31 (3), 403-407 (2017)
   PUBMED   28438869
  REMARK    GeneRIF: KK-LC-1 was frequently expressed in gastric cancer caused
            by H. pylori infection.
REFERENCE   7  (bases 1 to 517)
  AUTHORS   Paret C, Simon P, Vormbrock K, Bender C, Kolsch A, Breitkreuz A,
            Yildiz O, Omokoko T, Hubich-Rau S, Hartmann C, Hacker S, Wagner M,
            Roldan DB, Selmi A, Tureci O and Sahin U.
  TITLE     CXorf61 is a target for T cell based immunotherapy of
            triple-negative breast cancer
  JOURNAL   Oncotarget 6 (28), 25356-25367 (2015)
   PUBMED   26327325
  REMARK    GeneRIF: CXorf61 is a target for T cell based immunotherapy of
            triple-negative breast cancer.
REFERENCE   8  (bases 1 to 517)
  AUTHORS   Shida A, Futawatari N, Fukuyama T, Ichiki Y, Takahashi Y, Nishi Y,
            Kobayashi N, Yamazaki H and Watanabe M.
  TITLE     Frequent High Expression of Kita-Kyushu Lung Cancer Antigen-1
            (KK-LC-1) in Gastric Cancer
  JOURNAL   Anticancer Res 35 (6), 3575-3579 (2015)
   PUBMED   26026129
  REMARK    GeneRIF: The frequency of KK-LC-1 expression was higher than that of
            the other CTAs. KK-LC-1 might be a useful target for immunotherapy
            and in diagnosis of gastric cancer.
REFERENCE   9  (bases 1 to 517)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   10  (bases 1 to 517)
  AUTHORS   Fukuyama T, Hanagiri T, Takenoyama M, Ichiki Y, Mizukami M, So T,
            Sugaya M, So T, Sugio K and Yasumoto K.
  TITLE     Identification of a new cancer/germline gene, KK-LC-1, encoding an
            antigen recognized by autologous CTL induced on human lung
            adenocarcinoma
  JOURNAL   Cancer Res 66 (9), 4922-4928 (2006)
   PUBMED   16651449
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK000618.1, AK026566.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371894.5/ ENSP00000360961.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK026566.1 and AC241580.2.
            On Nov 22, 2018 this sequence version replaced NM_001017978.3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..517
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq23"
     gene            1..517
                     /gene="CT83"
                     /gene_synonym="CXorf61; KK-LC-1; KKLC1"
                     /note="cancer/testis antigen 83"
                     /db_xref="GeneID:203413"
                     /db_xref="HGNC:HGNC:33494"
                     /db_xref="MIM:300625"
     misc_feature    76..78
                     /gene="CT83"
                     /gene_synonym="CXorf61; KK-LC-1; KKLC1"
                     /note="upstream in-frame stop codon"
     CDS             121..462
                     /gene="CT83"
                     /gene_synonym="CXorf61; KK-LC-1; KKLC1"
                     /codon_start=1
                     /product="kita-kyushu lung cancer antigen 1"
                     /protein_id="NP_001017978.1"
                     /db_xref="CCDS:CCDS35372.1"
                     /db_xref="GeneID:203413"
                     /db_xref="HGNC:HGNC:33494"
                     /db_xref="MIM:300625"
                     /translation="MNFYLLLASSILCALIVFWKYRRFQRNTGEMSSNSTALALVRPSS
                     SGLINSNTDNNLAVYDLSRDILNNFPHSIARQKRILVNLSMVENKLVELEHTLLSKGFR
                     GASPHRKST"
     misc_feature    130..183
                     /gene="CT83"
                     /gene_synonym="CXorf61; KK-LC-1; KKLC1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H943.1);
                     transmembrane region"
     misc_feature    367..369
                     /gene="CT83"
                     /gene_synonym="CXorf61; KK-LC-1; KKLC1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5H943.1); glycosylation site"
     regulatory      497..502
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CT83"
                     /gene_synonym="CXorf61; KK-LC-1; KKLC1"
                     /note="hexamer: ATTAAA"
     polyA_site      517
                     /gene="CT83"
                     /gene_synonym="CXorf61; KK-LC-1; KKLC1"
                     /note="major polyA site"
ORIGIN
        1 agttacacca ggcatcctgg cccaaagttt cccaaatcca ggcggctaga ggcccactgc
       61 ttcccaacta ccagctgagg gggtccgtcc cgagaaggga gaagaggccg aagaggaaac
      121 atgaacttct atttactcct agcgagcagc attctgtgtg ccttgattgt cttctggaaa
      181 tatcgccgct ttcagagaaa cactggcgaa atgtcatcaa attcaactgc tcttgcacta
      241 gtgagaccct cttcttctgg gttaattaac agcaatacag acaacaatct tgcagtctac
      301 gacctctctc gggatatttt aaataatttc ccacactcaa tagccaggca gaagcgaata
      361 ttggtaaacc tcagtatggt ggaaaacaag ctggttgaac tggaacatac tctacttagc
      421 aagggtttca gaggtgcatc acctcaccgg aaatccacct aaaagcgtac aggatgtaat
      481 gccagtggtg gaaatcatta aagacacttt gagtaga
//
LOCUS       NM_001017979            1690 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens RAB28, member RAS oncogene family (RAB28), transcript
            variant 1, mRNA.
ACCESSION   NM_001017979
VERSION     NM_001017979.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1690)
  AUTHORS   Iarossi G, Marino V, Maltese PE, Colombo L, D'Esposito F, Manara E,
            Dhuli K, Modarelli AM, Cennamo G, Magli A, Dell'Orco D and Bertelli
            M.
  TITLE     Expanding the Clinical and Genetic Spectrum of RAB28-Related
            Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian
            Families
  JOURNAL   Int J Mol Sci 22 (1), 381 (2020)
   PUBMED   33396523
  REMARK    GeneRIF: Expanding the Clinical and Genetic Spectrum of
            RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in
            Italian Families. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1690)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1690)
  AUTHORS   Jespersgaard C, Hey AB, Ilginis T, Hjortshoj TD, Fang M, Bertelsen
            M, Bech N, Jensen H, Larsen LJ, Tumer Z, Rosenberg T,
            Brondum-Nielsen K, Moller LB and Gronskov K.
  TITLE     A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and
            Postaxial Polydactyly Prevents Localization of RAB28 to the Primary
            Cilium
  JOURNAL   Invest Ophthalmol Vis Sci 61 (2), 29 (2020)
   PUBMED   32084271
  REMARK    GeneRIF: In conclusion, RAB28 variants are a rare cause of cone-rod
            dystrophy in various ethnic groups. These variants cause a
            comparable ophthalmological phenotype and furthermore could also be
            a cause of postaxial polydactyly.
REFERENCE   4  (bases 1 to 1690)
  AUTHORS   Lee GI, Lee C, Subramanian S, Kim NKD, Ki CS, Park WY, Kim BJ and
            Kim SJ.
  TITLE     A novel likely pathogenic variant in the RAB28 gene in a Korean
            patient with cone-rod dystrophy
  JOURNAL   Ophthalmic Genet 38 (6), 587-589 (2017)
   PUBMED   28388261
  REMARK    GeneRIF: In summary, we identified a novel rare 'likely pathogenic'
            variant--RAB28 c.68C>T--in a Korean patient with cone-rod dystrophy.
REFERENCE   5  (bases 1 to 1690)
  AUTHORS   Riveiro-Alvarez R, Xie YA, Lopez-Martinez MA, Gambin T, Perez-Carro
            R, Avila-Fernandez A, Lopez-Molina MI, Zernant J, Jhangiani S, Muzny
            D, Yuan B, Boerwinkle E, Gibbs R, Lupski JR, Ayuso C and Allikmets
            R.
  TITLE     New mutations in the RAB28 gene in 2 Spanish families with cone-rod
            dystrophy
  JOURNAL   JAMA Ophthalmol 133 (2), 133-139 (2015)
   PUBMED   25356532
  REMARK    GeneRIF: Deleterious mutations in RAB28 result in a classic CRD
            phenotype and are an infrequent cause of CRD in the Spanish
            population.
REFERENCE   6  (bases 1 to 1690)
  AUTHORS   Yoshimura S, Gerondopoulos A, Linford A, Rigden DJ and Barr FA.
  TITLE     Family-wide characterization of the DENN domain Rab GDP-GTP exchange
            factors
  JOURNAL   J Cell Biol 191 (2), 367-381 (2010)
   PUBMED   20937701
REFERENCE   7  (bases 1 to 1690)
  AUTHORS   Lee SH, Baek K and Dominguez R.
  TITLE     Large nucleotide-dependent conformational change in Rab28
  JOURNAL   FEBS Lett 582 (29), 4107-4111 (2008)
   PUBMED   19026641
  REMARK    GeneRIF: Crystal structures of Rab28 in the active (GppNHp-bound)
            and inactive (GDP-3'P-bound) forms at 1.5 and 1.1A resolution were
            reported.
REFERENCE   8  (bases 1 to 1690)
  AUTHORS   Stenmark H and Olkkonen VM.
  TITLE     The Rab GTPase family
  JOURNAL   Genome Biol 2 (5), REVIEWS3007 (2001)
   PUBMED   11387043
  REMARK    Review article
REFERENCE   9  (bases 1 to 1690)
  AUTHORS   Pereira-Leal JB and Seabra MC.
  TITLE     The mammalian Rab family of small GTPases: definition of family and
            subfamily sequence motifs suggests a mechanism for functional
            specificity in the Ras superfamily
  JOURNAL   J Mol Biol 301 (4), 1077-1087 (2000)
   PUBMED   10966806
REFERENCE   10  (bases 1 to 1690)
  AUTHORS   Brauers A, Schurmann A, Massmann S, Muhl-Zurbes P, Becker W,
            Kainulainen H, Lie C and Joost HG.
  TITLE     Alternative mRNA splicing of the novel GTPase Rab28 generates
            isoforms with different C-termini
  JOURNAL   Eur J Biochem 237 (3), 833-840 (1996)
   PUBMED   8647132
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.9581.1,
            SRR3476690.967410.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000330852.10/ ENSP00000328551.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA369194.1 and BC035054.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001017979.2.
            Summary: This gene encodes a member of the Rab subfamily of
            Ras-related small GTPases. The encoded protein may be involved in
            regulating intracellular trafficking. Alternative splicing results
            in multiple transcript variants. Pseudogenes of this gene are found
            on chromosomes 9 and X. [provided by RefSeq, Apr 2009].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1690
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p15.33"
     gene            1..1690
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /note="RAB28, member RAS oncogene family"
                     /db_xref="GeneID:9364"
                     /db_xref="HGNC:HGNC:9768"
                     /db_xref="MIM:612994"
     CDS             191..856
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Ras-related protein Rab-28"
                     /codon_start=1
                     /product="ras-related protein Rab-28 isoform 1"
                     /protein_id="NP_001017979.1"
                     /db_xref="CCDS:CCDS33961.1"
                     /db_xref="GeneID:9364"
                     /db_xref="HGNC:HGNC:9768"
                     /db_xref="MIM:612994"
                     /translation="MSDSEEESQDRQLKIVVLGDGASGKTSLTTCFAQETFGKQYKQTI
                     GLDFFLRRITLPGNLNVTLQIWDIGGQTIGGKMLDKYIYGAQGVLLVYDITNYQSFENL
                     EDWYTVVKKVSEESETQPLVALVGNKIDLEHMRTIKPEKHLRFCQENGFSSHFVSAKTG
                     DSVFLCFQKVAAEILGIKLNKAEIEQSQRVVKADIVNYNQEPMSRTVNPPRSSMCAVQ"
     misc_feature    194..196
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P51157.2); acetylation site"
     misc_feature    212..214
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P51157.2); phosphorylation site"
     misc_feature    311..337
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /note="propagated from UniProtKB/Swiss-Prot (P51157.2);
                     Region: Effector region. /evidence=ECO:0000250"
     misc_feature    842..844
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /note="Cysteine methyl ester. /evidence=ECO:0000305;
                     propagated from UniProtKB/Swiss-Prot (P51157.2);
                     methylation site"
     regulatory      1672..1677
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /note="hexamer: AATAAA"
     polyA_site      1690
                     /gene="RAB28"
                     /gene_synonym="CORD18"
                     /note="major polyA site"
ORIGIN
        1 gcagagggcg gggaggtggg caagatggcg cttgccgagt gattctcctc gaatacctcc
       61 tgccggcgcg gagacaccgg ggcgggggtc ctgccgcaac tacctccctt cctcctctcc
      121 cccgcccccg gagccttcat ccttcccttc cccccccacc tcgaggggcg ggcctggttc
      181 ccgggacacc atgtcggact ctgaggagga gagccaggac cggcaactga aaatcgtcgt
      241 gctgggggac ggcgcctccg ggaagacctc cttaactacg tgttttgctc aagaaacttt
      301 tgggaaacag tacaaacaaa ctataggact ggatttcttt ttgagaagga taacattgcc
      361 aggaaacttg aatgttaccc ttcaaatttg ggatatagga gggcagacaa taggaggcaa
      421 aatgttggat aaatatatct atggagcaca gggagtcctc ttggtatatg atattacaaa
      481 ttatcaaagc tttgagaatt tagaagattg gtatactgtg gtgaagaaag tgagcgagga
      541 gtcagaaact cagccactgg ttgccttggt aggcaataaa attgatttgg agcatatgcg
      601 aacaataaaa cctgaaaaac acttacggtt ttgccaggaa aatggtttta gtagccactt
      661 tgtctcagcc aagacaggag actctgtctt cctgtgcttt cagaaagttg ctgctgaaat
      721 ccttgggatc aaattaaaca aagcagaaat agaacagtca cagagggtgg tgaaggcaga
      781 tattgtaaac tacaaccagg aacctatgtc aaggactgtt aaccctccta gaagctctat
      841 gtgtgcagtt cagtgagcgc atttttcttt tgtgttgata gttctggctg cccttcacct
      901 ctgggtgggc ccgaggactt ctaggaactt gttttatcag tgaccatctc tgtagttcag
      961 ttaacacttt actcccaact tgcttcatca ttgctattgc ctcacagtgg caggcagctc
     1021 cttggatttg aaagaattca actttgggac cacacacttt gaattcaaaa tggaaaaccc
     1081 attccctgga attagactgc ttcattgcaa aagaatgatg ttgtttcttt gtatgtcctt
     1141 gcttcttttt tcattgatgt aaattttttt aacttaatat gaaaactctc caagtcttga
     1201 tcatcagcca ggattttgcc acagcaattt cattctctta tcggaacttg tatgtgtcaa
     1261 agtatacttc agagtgcaaa cattaagcaa gtaatatatt ttacctacag atacttatga
     1321 agacattctt tcgctatcgt gagtaaaagt atataaagct gtttctaact gaaaatgctt
     1381 gaaataagcc tgtaatagaa atattttttc attttttaaa aaagggccta aattgtttat
     1441 attgtagttt gtaactcaca aagtaatatt tgatattgta tttttattac tgtatcgttg
     1501 tcgttatgta ttgtgtaata ctcaggtttg aaggctttct gaattctgat aaatgttcag
     1561 ctgatgctcc acgtggaatt tctcttgcaa actgcataag agtactcccg agaatgagtt
     1621 atgacattgt ggatcagact gtacctgatg ttcagatgtt tttctttcac aaataaactt
     1681 atttaaatta
//
LOCUS       NM_001017980            4715 bp    mRNA    linear   PRI 26-MAY-2023
DEFINITION  Homo sapiens vacuolar ATPase assembly factor VMA21 (VMA21),
            transcript variant 1, mRNA.
ACCESSION   NM_001017980
VERSION     NM_001017980.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4715)
  AUTHORS   Wang F, Yang Y, Boudagh G, Eskelinen EL, Klionsky DJ and Malek SN.
  TITLE     Follicular lymphoma-associated mutations in the V-ATPase chaperone
            VMA21 activate autophagy creating a targetable dependency
  JOURNAL   Autophagy 18 (8), 1982-2000 (2022)
   PUBMED   35287545
  REMARK    GeneRIF: Follicular lymphoma-associated mutations in the V-ATPase
            chaperone VMA21 activate autophagy creating a targetable dependency.
REFERENCE   2  (bases 1 to 4715)
  AUTHORS   Shen HY, Shi LX, Wang L, Fang LP, Xu W, Xu JQ, Fan BQ and Fan WF.
  TITLE     Hsa_circ_0001361 facilitates the progress of lung adenocarcinoma
            cells via targeting miR-525-5p/VMA21 axis
  JOURNAL   J Transl Med 19 (1), 389 (2021)
   PUBMED   34507559
  REMARK    GeneRIF: Hsa_circ_0001361 facilitates the progress of lung
            adenocarcinoma cells via targeting miR-525-5p/VMA21 axis. Erratum:[J
            Transl Med. 2021 Nov 25;19(1):476. PMID: 34823542] Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 4715)
  AUTHORS   Wang Q, Zhang X and Chen D.
  TITLE     circ_VMA21 protects WI-38 cells against LPS-induced apoptotic and
            inflammatory injury by acting on the miR-409-3p/KLF4 axis
  JOURNAL   Gen Physiol Biophys 40 (4), 275-287 (2021)
   PUBMED   34350833
  REMARK    GeneRIF: circ_VMA21 protects WI-38 cells against LPS-induced
            apoptotic and inflammatory injury by acting on the miR-409-3p/KLF4
            axis.
REFERENCE   4  (bases 1 to 4715)
  AUTHORS   Cotta A, Carvalho E, da-Cunha-Junior AL, Navarro MM, Menezes MM,
            Paim JF, Valicek J, Lima MI, Velloso-Filho R, Freire-Lyra MH, Takata
            RI, Inoue M, Okubo M, Iida A and Nishino I.
  TITLE     Clinical, imaging, morphologic, and molecular features of X-linked
            VMA21-related myopathy in two unrelated Brazilian families
  JOURNAL   J Neurol Sci 415, 116977 (2020)
   PUBMED   32535249
  REMARK    GeneRIF: Clinical, imaging, morphologic, and molecular features of
            X-linked VMA21-related myopathy in two unrelated Brazilian families.
REFERENCE   5  (bases 1 to 4715)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 4715)
  AUTHORS   Hirano M and DiMauro S.
  TITLE     VMA21 deficiency: a case of myocyte indigestion
  JOURNAL   Cell 137 (2), 213-215 (2009)
   PUBMED   19379689
REFERENCE   7  (bases 1 to 4715)
  AUTHORS   Sugie K, Noguchi S, Kozuka Y, Arikawa-Hirasawa E, Tanaka M, Yan C,
            Saftig P, von Figura K, Hirano M, Ueno S, Nonaka I and Nishino I.
  TITLE     Autophagic vacuoles with sarcolemmal features delineate Danon
            disease and related myopathies
  JOURNAL   J Neuropathol Exp Neurol 64 (6), 513-522 (2005)
   PUBMED   15977643
REFERENCE   8  (bases 1 to 4715)
  AUTHORS   Auranen M, Villanova M, Muntoni F, Fardeau M, Scherer SW, Kalino H
            and Minassian BA.
  TITLE     X-linked vacuolar myopathies: two separate loci and refined genetic
            mapping
  JOURNAL   Ann Neurol 47 (5), 666-669 (2000)
   PUBMED   10805342
REFERENCE   9  (bases 1 to 4715)
  AUTHORS   Villard L, des Portes V, Levy N, Louboutin JP, Recan D, Coquet M,
            Chabrol B, Figarella-Branger D, Chelly J, Pellissier JF and Fontes
            M.
  TITLE     Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28
  JOURNAL   Eur J Hum Genet 8 (2), 125-129 (2000)
   PUBMED   10757644
REFERENCE   10  (bases 1 to 4715)
  AUTHORS   Saviranta P, Lindlof M, Lehesjoki AE, Kalimo H, Lang H, Sonninen V,
            Savontaus ML and de la Chapelle A.
  TITLE     Linkage studies in a new X-linked myopathy, suggesting exclusion of
            DMD locus and tentative assignment to distal Xq
  JOURNAL   Am J Hum Genet 42 (1), 84-88 (1988)
   PUBMED   2892402
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC110800.1, AL833596.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000330374.7/ ENSP00000333255.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF003627.3.
            On Aug 14, 2020 this sequence version replaced NM_001017980.3.
            Summary: This gene encodes a chaperone for assembly of lysosomal
            vacuolar ATPase.[provided by RefSeq, Jul 2012].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4715
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..4715
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /note="vacuolar ATPase assembly factor VMA21"
                     /db_xref="GeneID:203547"
                     /db_xref="HGNC:HGNC:22082"
                     /db_xref="MIM:300913"
     CDS             104..409
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /note="isoform 1 is encoded by transcript variant 1;
                     vacuolar ATPase assembly integral membrane protein VMA21;
                     myopathy with excessive autophagy protein; VMA21 vacuolar
                     H+-ATPase homolog; VMA21, vacuolar ATPase assembly factor"
                     /codon_start=1
                     /product="vacuolar ATPase assembly integral membrane
                     protein VMA21 isoform 1"
                     /protein_id="NP_001017980.1"
                     /db_xref="CCDS:CCDS35430.1"
                     /db_xref="GeneID:203547"
                     /db_xref="HGNC:HGNC:22082"
                     /db_xref="MIM:300913"
                     /translation="MERPDKAALNALQPPEFRNESSLASTLKTLLFFTALMITVPIGLY
                     FTTKSYIFEGALGMSNRDSYFYAAIVAVVAVHVVLALFVYVAWNEGSRQWREGKQD"
     misc_feature    179..241
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3ZAQ7.1);
                     transmembrane region"
     misc_feature    299..361
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3ZAQ7.1);
                     transmembrane region"
     regulatory      4691..4696
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /note="hexamer: ATTAAA"
     polyA_site      4715
                     /gene="VMA21"
                     /gene_synonym="MEAX; XMEA"
                     /note="major polyA site"
ORIGIN
        1 acttccggtg cgaaccgcct cggccgttcc ctcgcggagc ttactgagcg cggccgccga
       61 gcccagctcc gccgccgagc gcctgtgccg gcacggctac accatggagc gcccggataa
      121 ggcggcgctg aacgcactgc agcctcctga gttcagaaat gaaagctcat tagcatctac
      181 actgaagacg ctcctgttct tcacagcttt aatgatcact gttcctattg ggttatattt
      241 cacaactaaa tcttacatat ttgaaggcgc ccttgggatg tccaataggg acagctattt
      301 ttacgctgct attgttgcag tggtcgccgt ccatgtggtg ctggccctct ttgtgtatgt
      361 ggcctggaat gaaggctcac gacagtggcg tgaaggcaaa caggattaaa gtgaacatca
      421 cctttttata gcattaaatt cattttttaa aatgataaat gctggagggg gccatctgat
      481 ttgaataaag ttgaaagaac atgttaaagt cagtcttaag gagtcacgtt tgagtatgta
      541 aattttgatc tttctaatat gttggtttgt atattcagtt ttaactgtat gaatctgatt
      601 tgcaaatgag aatttggaaa agttagttac aaagaaatat gttaatttaa ttagacaata
      661 ctctggaagg aattttatct tctttcaaca aaacatgttt tatagtattc tgacttacgg
      721 ttgcttttga gttttactca tttggatata ttaagatgca cacagtgaag caaattaaac
      781 tccactttac gctggaatgc tttctttagc atgaaaatac caggtccttg gatttgggat
      841 tttaatttcc tatggaaagt tgcttaaatt gtggacactg gaattaatct gaatgtcact
      901 gaggaatttc acatgaagtg taatccctag tcaataagaa ttatccatta cattatttta
      961 tgggaaaact aggctaaatt acatccattc aggtaaaagg accttagctt actgaaggat
     1021 ctaaagagca aagcaaagat ctcactactc aaacactcag cctgcttcct tcaagtcccc
     1081 ttgcaggcca gctttgtgct ttgcagacca actttttaat gagatacttt gcttcctcat
     1141 tcaacattga agctaggctt caattaaaag gttcgaggaa gctccattta aaattgtttt
     1201 ttttactatt ttttaaaatt gtagtgtata tgataggaat ttgcatttaa atatgttcat
     1261 ttttgcatat gttaggagtg gaaacaatct ggaaaacatt tttttttcat ccaaaaagta
     1321 ttctccttgg gcatatctga tggaaaaaaa ccttgatttt attttcgtat ctttagtctg
     1381 tgttctttct agttatttgg tactaattat gtgcaatcta aaaacactcc cacaagtatt
     1441 tgttttttaa ttataaaatc atagtatatg ttctttgtag aaaactggaa aaatacatat
     1501 tcaaacagga aaaaaaatca aaattcccca taatgttgcc atctaaaaat aacctctatt
     1561 ttagttgata tcccgtattc atttttgaaa gccattcctt aatgctagtt tgatacacac
     1621 taaaagttta gcttacaagt tcaaattctg ccagcttttc ctgacagcta tttgcatttt
     1681 tttcagatga gtgattattg gccattttct ttttcttttt ctttatttta tttatttatt
     1741 tttttgagac agagttttgc tctgttgccc aggctggagt gcagtggtgc aatctcggct
     1801 cactgcaacc tctgcctcct gggttcaagt gattctccac ctcagcctcc caagtagctg
     1861 ggactacgga tgcctgccac cacgcctggc taattttttt ttgtattttt ttgtagagac
     1921 ggggtttcac catgttgtcc aggctaatct tgaacttgtg acctcaggtg atccacccgc
     1981 ctcggcctcc gaaagtgctg ggattacagg cgtgagctac cacgcccggc cttattgacc
     2041 attttctaaa taagcacatt ctatctttat tctcttaaaa ttcaaatttt ctgttactga
     2101 taatcctaat actaggattc ttgcttaagt atgtgaaacc attaccgatt tgttgttcac
     2161 atttattttt tatgttgtga aactggacta aaggaataga gggatgatta gtcataaaag
     2221 tcaaatagca tttgtgttta actgttgaga aaagtgaaag atcagtatga ttattatgga
     2281 actgttttta attcttgctt aaagactaca attttagtat aatgacattt gagtctaggg
     2341 tagtatgtgg tagatttcta gatggtccct aattaagaag tattgttgta tttagaattg
     2401 tccacctaat ttctttttat ataatgccaa ggtatttctt gtgcttttgg gatcttatgc
     2461 tgtttgtaaa atgttactgt ccaatgttgg attattgttt tggtttcagg catttgctga
     2521 ataggtgatg atacatgggt atttttctgc aagtatttaa accaggggca tatgcaaagg
     2581 cagttgtaat ttcctcttgg aaaaagcgcc aaatgtttga aggttaaaat caaatgctag
     2641 ggttgatatt taggcttata acaaaatagg cttgttttca aagcagtttt ttcctagagt
     2701 tttaactgtt aactcactag tttgctgctg tttttaacta tgttaaataa catatggtat
     2761 ttggcaaata gatttatttt tcaaaatgtc tcactagttt ccttttacac aatgtatata
     2821 cttcaagatg tatagaaagg aaagctacag ttgagccctt atacatgttt taaggtagaa
     2881 atatgttccc tattgtttga aaactgattg taagaataac ctcagttagg agatataact
     2941 tgaagtgtca gtccaaacta ctgatttaac cctatttacg gtaacacatt accttcctca
     3001 cctcctgttt ggccctggag aatgtagtcc tttttctcat ttgtgttgag aaatgaaaag
     3061 tctgctgtag aatgtatctg atgtcattag ttcttcaaat ggataccatt gtacatataa
     3121 cagtagaatt tggtttgggg ttgttagtga aaaaaaattt aaacctgcca ttaaaaatcc
     3181 ccatgtttca tggaaatcta acagaaatac attgtaataa ttagaacatt ttgttttctt
     3241 ttttcttttt ttttttttcg agacggagtt ttgcccttct tgcccaggct ggagtgcaag
     3301 ggcgcaatct cggctcgctg caacctccgc ctcccgggtt caagcagttc tcctgcctca
     3361 gccccctgag tacctcagat gacaggtgcg tgccaccaca cccggctaat ttttgtattt
     3421 ttagtagaga cggggtttca ccatgttagc caggctagtc tcgaactcct gacctcaggt
     3481 gatccacccg cctccgcctc ccaaagtgct gggattacag gtatcagcca ccgtgcctgg
     3541 cctaataatt ggaacatttt catcatgaaa atgtcatcag ctttgccaaa agaaacaacc
     3601 aattgacttg tttggcgttt gttttccatt ttcatgtcaa ttttatgtat acagttagaa
     3661 tacccaagga gaccactaaa atcagttaaa caagtagggt atatacaaag aaagatgaaa
     3721 cccgaaagta cataaaaagg atttaaatcc gattttagat gtacctagtg tgtatttctt
     3781 atctctagac aagttcatgt ttattgttta atttatgccc aagtgaagtt gtaaacttat
     3841 ggttcaactc tgacacagaa tttgtcactt gtctgaggtc agtggcaggt ttctctgctg
     3901 tcaagcactc tgtgtcaccc accagattag tataactatt aattcagact gtactcctat
     3961 gtttaagata atttttacaa gagctggctg aagcagcaca ttagtaacct gacaagattt
     4021 ctttttccct tttcaggggg aaagggtcac cttaaaaata aattattttc agggactttg
     4081 ggaatctaat gataaatatt acacataatc tatgaatagc ttaatccttt atatattcct
     4141 taaaatagga attcctcgac atcactcctg gccacacttt ccttgcctgt gttgttgcta
     4201 tgtgtatttg aaagtaatat ctgcattcct tttaagatgt tctgtaagtc atatttgtca
     4261 gttatacaga gtagtcttcc ttttccccac gttcagtgta atctcactga acagtaataa
     4321 tagcaatagc taacaacatc tgcacagcac cttacagttt gcaaagaacg ttcacacatt
     4381 ctcatttgag ttttgcatag tgaacctgtt acgagatgtc tcttgacgtc gatgctaaaa
     4441 gtgttagaat ctttacatca ctagagtcat tgaatatgct gtagtattga atagtgccct
     4501 gactaggggg aggatttgga tgtgctgcat ttcaagccgt gtataatcat caaaatgggg
     4561 ggcttgagtt ctttagctac ttgaatccga tttacttctg ttaagtgatg cttttctaac
     4621 cgttttctgg atggattttg tattcactat attgtagctt gtaatttgta taaatgtacc
     4681 atctgatgtc attaaaaaaa gtgtttgtag tgcta
//
LOCUS       NM_001017981            2011 bp    mRNA    linear   PRI 21-FEB-2023
DEFINITION  Homo sapiens ring finger protein 215 (RNF215), mRNA.
ACCESSION   NM_001017981
VERSION     NM_001017981.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.728719.1,
            SRR1660809.62087.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000382363.8/ ENSP00000371800.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004997.2, BM476400.1, BX494669.1 and BM806918.1.
            On May 17, 2019 this sequence version replaced NM_001017981.1.
FEATURES             Location/Qualifiers
     source          1..2011
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..2011
                     /gene="RNF215"
                     /note="ring finger protein 215"
                     /db_xref="GeneID:200312"
                     /db_xref="HGNC:HGNC:33434"
     CDS             99..1232
                     /gene="RNF215"
                     /codon_start=1
                     /product="RING finger protein 215 precursor"
                     /protein_id="NP_001017981.1"
                     /db_xref="CCDS:CCDS33633.1"
                     /db_xref="GeneID:200312"
                     /db_xref="HGNC:HGNC:33434"
                     /translation="MGPAARPALRSPPPPPPPPPSPLLLLLPLLPLWLGLAGPGAAADG
                     SEPAAGAGRGGARAVRVDVRLPRQDALVLEGVRIGSEADPAPLLGGRLLLMDIVDAEQE
                     APVEGWIAVAYVGKEQAAQFHQENKGSGPQAYPKALVQQMRRALFLGASALLLLILNHN
                     VVRELDISQLLLRPVIVLHYSSNVTKLLDALLQRTQATAEITSGESLSANIEWKLTLWT
                     TCGLSKDGYGGWQDLVCLGGSRAQEQKPLQQLWNAILLVAMLLCTGLVVQAQRQASRQS
                     QRELGGQVDLFKRRVVRRLASLKTRRCRLSRAAQGLPDPGAETCAVCLDYFCNKQWLRV
                     LPCKHEFHRDCVDPWLMLQQTCPLCKFNVLGNRYSDD"
     sig_peptide     99..209
                     /gene="RNF215"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    99..164
                     /gene="RNF215"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6U7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    165..227
                     /gene="RNF215"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6U7.2);
                     transmembrane region"
     misc_feature    654..656
                     /gene="RNF215"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9Y6U7.2); glycosylation site"
     misc_feature    849..911
                     /gene="RNF215"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y6U7.2);
                     transmembrane region"
     regulatory      1985..1990
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNF215"
                     /note="hexamer: AATAAA"
     polyA_site      2011
                     /gene="RNF215"
                     /note="major polyA site"
ORIGIN
        1 ggcgccccgc cccgtccggc agcggcctcg ctccctccga tcccccccgc gcccgggacc
       61 cctggcccca ctgttgggcc agctcgccgg gtccggccat gggccccgcc gctcgccccg
      121 cgctgagatc gccgccgccg cctccgccgc cgcctccgtc tccgctgctg ctgctgctgc
      181 ccctgctgcc gctgtggctg ggcctggcgg ggcccggggc cgcggcggac ggcagcgagc
      241 cggcggccgg ggcggggcgg ggcggagccc gcgccgtgcg ggtggacgtg agactgccgc
      301 gccaggacgc tctggtcctg gagggcgtca ggatcggctc cgaagccgac ccggcgcccc
      361 tgctgggcgg tcgtctgctg ctgatggaca tcgtggatgc cgagcaggag gcaccagtgg
      421 aaggctggat tgcagtggca tacgtgggca aggagcaggc ggcccagttc caccaggaga
      481 ataagggcag tggcccgcag gcctatccca aggccctggt ccagcagatg cggcgggccc
      541 tcttcctggg tgcctctgcc ctgcttcttc tcatcctgaa ccacaacgtg gtccgagagc
      601 tggacatatc ccagcttctg ctcaggccag tgatcgtcct ccattattcc tccaatgtca
      661 ccaagctgtt ggatgcattg ctgcagagga cccaggccac ggctgagatc accagcggag
      721 agtccctgtc tgccaatatc gagtggaagt tgaccttgtg gaccacctgt ggcctctcca
      781 aggatggcta tggaggatgg caggacttgg tctgccttgg aggcagtcgt gcccaggagc
      841 agaaacccct gcagcagctg tggaacgcca tcctgctggt ggccatgctc ctgtgcacag
      901 gcctcgtggt ccaggcccag cggcaggcgt cgcggcagag ccagcgggag ctcggaggcc
      961 aggtggacct gtttaagcgc cgcgtggtgc ggagactggc atccctcaag acacggcgct
     1021 gccggctgag cagggcagcg cagggcctcc cagatccggg tgctgagacc tgtgcggtgt
     1081 gcctggacta cttctgcaac aaacagtggc tccgggtgct gccctgtaag cacgagtttc
     1141 accgagactg tgtggacccc tggctgatgc tccagcagac ctgcccactg tgcaaattca
     1201 acgtcctggg gaaccgctac tccgatgatt agctgcccag ctggactctg cacatgggga
     1261 tggacccttc ctgcctgcac cccggtcctc agcctgggct cccaggacag gacaggatgg
     1321 gacagcagga tagacaggac agcaagccca gtgggtggga ggaaggatga gggccccacc
     1381 atgtccacac tgggaaggag ggccccacag cttcagactg aggatctagg gctgggacct
     1441 gtcagtcaag gaagagaggt cactttggga ccttctctgc aatcctgtga cgtgagtctg
     1501 ccctccttac aggcagctcc caggtcaata aggaaagaga atatggggcc agtgtagctg
     1561 tcgccagggt tctgggagct ccctgtggcc tgtctgggaa ttcctggggg ctgagactac
     1621 agtggccagg ttttgtgctt atttattggg gggtgggttg agggaagagc tatctggcct
     1681 tggggtaccc tggcctgacc gtctttcagg atacttcttg tcaaggctgt ctgcctgttg
     1741 cctttggtcc tcaagcactg ggagccatgg gtcccactgc ctgtccagcc tggctccctt
     1801 cctgggcctg gctaggacca gaggtcttag aaaccgtcct gttctggaat ccttggctgc
     1861 ggctttgtgt tgctgaccgg gatactcgaa gccacaggat caatgtggtg cctcatccag
     1921 gggcatcctt tttttttttt tttttttttt ttaaagagtt ggagtaggga aggtttaata
     1981 gtaaaataaa cgtggctata ttttaacata a
//
LOCUS       NM_001017990             587 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens H2A.B variant histone 1 (H2AB1), mRNA.
ACCESSION   NM_001017990
VERSION     NM_001017990.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 587)
  AUTHORS   Jiang X, Wen J, Paver E, Wu YH, Sun G, Bullman A, Dahlstrom JE,
            Tremethick DJ and Soboleva TA.
  TITLE     H2A.B is a cancer/testis factor involved in the activation of
            ribosome biogenesis in Hodgkin lymphoma
  JOURNAL   EMBO Rep 22 (8), e52462 (2021)
   PUBMED   34350706
  REMARK    GeneRIF: H2A.B is a cancer/testis factor involved in the activation
            of ribosome biogenesis in Hodgkin lymphoma.
REFERENCE   2  (bases 1 to 587)
  AUTHORS   Zhou M, Dai L, Li C, Shi L, Huang Y, Guo Z, Wu F, Zhu P and Zhou Z.
  TITLE     Structural basis of nucleosome dynamics modulation by histone
            variants H2A.B and H2A.Z.2.2
  JOURNAL   EMBO J 40 (1), e105907 (2021)
   PUBMED   33073403
  REMARK    GeneRIF: Structural basis of nucleosome dynamics modulation by
            histone variants H2A.B and H2A.Z.2.2.
REFERENCE   3  (bases 1 to 587)
  AUTHORS   Molaro A, Young JM and Malik HS.
  TITLE     Evolutionary origins and diversification of testis-specific short
            histone H2A variants in mammals
  JOURNAL   Genome Res 28 (4), 460-473 (2018)
   PUBMED   29549088
REFERENCE   4  (bases 1 to 587)
  AUTHORS   Shaytan AK, Landsman D and Panchenko AR.
  TITLE     Nucleosome adaptability conferred by sequence and structural
            variations in histone H2A-H2B dimers
  JOURNAL   Curr Opin Struct Biol 32, 48-57 (2015)
   PUBMED   25731851
  REMARK    Review article
REFERENCE   5  (bases 1 to 587)
  AUTHORS   Bonisch C and Hake SB.
  TITLE     Histone H2A variants in nucleosomes and chromatin: more or less
            stable?
  JOURNAL   Nucleic Acids Res 40 (21), 10719-10741 (2012)
   PUBMED   23002134
  REMARK    Review article
REFERENCE   6  (bases 1 to 587)
  AUTHORS   Tolstorukov MY, Goldman JA, Gilbert C, Ogryzko V, Kingston RE and
            Park PJ.
  TITLE     Histone variant H2A.Bbd is associated with active transcription and
            mRNA processing in human cells
  JOURNAL   Mol Cell 47 (4), 596-607 (2012)
   PUBMED   22795134
REFERENCE   7  (bases 1 to 587)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   8  (bases 1 to 587)
  AUTHORS   Bao Y, Konesky K, Park YJ, Rosu S, Dyer PN, Rangasamy D, Tremethick
            DJ, Laybourn PJ and Luger K.
  TITLE     Nucleosomes containing the histone variant H2A.Bbd organize only 118
            base pairs of DNA
  JOURNAL   EMBO J 23 (16), 3314-3324 (2004)
   PUBMED   15257289
REFERENCE   9  (bases 1 to 587)
  AUTHORS   Chadwick BP and Willard HF.
  TITLE     A novel chromatin protein, distantly related to histone H2A, is
            largely excluded from the inactive X chromosome
  JOURNAL   J Cell Biol 152 (2), 375-384 (2001)
   PUBMED   11266453
REFERENCE   10  (bases 1 to 587)
  AUTHORS   Naylor JA, Buck D, Green P, Williamson H, Bentley D and Giannelli F.
  TITLE     Investigation of the factor VIII intron 22 repeated region (int22h)
            and the associated inversion junctions
  JOURNAL   Hum Mol Genet 4 (7), 1217-1224 (1995)
   PUBMED   8528212
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: SRR1163655.215781.1, CR542230.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000620016.2/ ENSP00000484261.2
            RefSeq Select criteria :: based on single protein-coding transcript
            replication-independent histone :: PMID: 25731851
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX842559.3.
            On Dec 3, 2019 this sequence version replaced NM_001017990.1.
            Summary: Histones are basic nuclear proteins that are responsible
            for the nucleosome structure of the chromosomal fiber in
            eukaryotes. Nucleosomes consist of approximately 146 bp of DNA
            wrapped around a histone octamer composed of pairs of each of the
            four core histones (H2A, H2B, H3, and H4). The chromatin fiber is
            further compacted through the interaction of a linker histone, H1,
            with the DNA between the nucleosomes to form higher order chromatin
            structures. This gene encodes a replication-independent histone
            that is a member of the histone H2A family. This gene is part of a
            region that is repeated three times on chromosome X, once in intron
            22 of the F8 gene and twice closer to the Xq telomere. This record
            represents the most centromeric copy which is in intron 22 of the
            F8 gene. [provided by RefSeq, Oct 2015].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..587
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..587
                     /gene="H2AB1"
                     /gene_synonym="H2A.B; H2A.B.2; H2A.Bbd; H2AFB1"
                     /note="H2A.B variant histone 1"
                     /db_xref="GeneID:474382"
                     /db_xref="HGNC:HGNC:22516"
                     /db_xref="MIM:301037"
     misc_feature    40..42
                     /gene="H2AB1"
                     /gene_synonym="H2A.B; H2A.B.2; H2A.Bbd; H2AFB1"
                     /note="upstream in-frame stop codon"
     CDS             79..426
                     /gene="H2AB1"
                     /gene_synonym="H2A.B; H2A.B.2; H2A.Bbd; H2AFB1"
                     /note="H2A Barr body-deficient; H2A histone family member
                     B1"
                     /codon_start=1
                     /product="histone H2A-Bbd type 1"
                     /protein_id="NP_001017990.1"
                     /db_xref="CCDS:CCDS35458.1"
                     /db_xref="GeneID:474382"
                     /db_xref="HGNC:HGNC:22516"
                     /db_xref="MIM:301037"
                     /translation="MPRRRRRRGSSGAGGRGRTCSRTVRAELSFSVSQVERSLREGHYA
                     QRLSRTAPVYLAAVIEYLTAKVPELAGNEAQNSGERNITPLLLDMVVHNDRLLSTLFNT
                     TTISQVAPGED"
     misc_feature    79..141
                     /gene="H2AB1"
                     /gene_synonym="H2A.B; H2A.B.2; H2A.Bbd; H2AFB1"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C5Y9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    337..423
                     /gene="H2AB1"
                     /gene_synonym="H2A.B; H2A.B.2; H2A.Bbd; H2AFB1"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C5Y9.1);
                     Region: Docking domain.
                     /evidence=ECO:0000269|PubMed:15257289"
ORIGIN
        1 actggacgcg gtaactgtcc tcttgagagc catcttgcct agctgggcca agccgagata
       61 gcacactcaa cgcccagcat gccgaggagg aggagacgcc gagggtcctc cggtgctggc
      121 ggccgggggc ggacctgctc tcgcaccgtc cgagcggagc tttcgttttc agtgagccag
      181 gtggagcgca gtctacggga gggccactac gctcagcgcc tgagtcgcac ggcgccggtc
      241 tacctcgctg cggttattga gtacctgacg gccaaggtcc cggagctggc gggcaacgag
      301 gcccagaaca gcggagagcg gaacatcact cccctgctgc tggacatggt ggttcacaac
      361 gacaggctac tgagcaccct tttcaacacg accaccatct ctcaagtggc ccctggcgag
      421 gactagcttc tgacacccgg cccctgggac ctgacaggtc cactcgtcca cccacccggc
      481 cccaaatccc ccggcctgaa cccccggcct taaacaccct ccccccacaa cccaggcccc
      541 aaagtcttgg gccttcatta attctgtcaa taaaatgttt caaggaa
//
LOCUS       NM_001017991             591 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens H2A.B variant histone 2 (H2AB2), mRNA.
ACCESSION   NM_001017991
VERSION     NM_001017991.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 591)
  AUTHORS   Zhou M, Dai L, Li C, Shi L, Huang Y, Guo Z, Wu F, Zhu P and Zhou Z.
  TITLE     Structural basis of nucleosome dynamics modulation by histone
            variants H2A.B and H2A.Z.2.2
  JOURNAL   EMBO J 40 (1), e105907 (2021)
   PUBMED   33073403
REFERENCE   2  (bases 1 to 591)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 591)
  AUTHORS   Molaro A, Young JM and Malik HS.
  TITLE     Evolutionary origins and diversification of testis-specific short
            histone H2A variants in mammals
  JOURNAL   Genome Res 28 (4), 460-473 (2018)
   PUBMED   29549088
REFERENCE   4  (bases 1 to 591)
  AUTHORS   Shaytan AK, Landsman D and Panchenko AR.
  TITLE     Nucleosome adaptability conferred by sequence and structural
            variations in histone H2A-H2B dimers
  JOURNAL   Curr Opin Struct Biol 32, 48-57 (2015)
   PUBMED   25731851
  REMARK    Review article
REFERENCE   5  (bases 1 to 591)
  AUTHORS   Tolstorukov MY, Goldman JA, Gilbert C, Ogryzko V, Kingston RE and
            Park PJ.
  TITLE     Histone variant H2A.Bbd is associated with active transcription and
            mRNA processing in human cells
  JOURNAL   Mol Cell 47 (4), 596-607 (2012)
   PUBMED   22795134
  REMARK    GeneRIF: Changes in exon inclusion rates and increased presence of
            intronic sequences in mRNA products upon H2A.Bbd depletion.
REFERENCE   6  (bases 1 to 591)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   7  (bases 1 to 591)
  AUTHORS   Okuwaki M, Kato K, Shimahara H, Tate S and Nagata K.
  TITLE     Assembly and disassembly of nucleosome core particles containing
            histone variants by human nucleosome assembly protein I
  JOURNAL   Mol Cell Biol 25 (23), 10639-10651 (2005)
   PUBMED   16287874
REFERENCE   8  (bases 1 to 591)
  AUTHORS   Bao Y, Konesky K, Park YJ, Rosu S, Dyer PN, Rangasamy D, Tremethick
            DJ, Laybourn PJ and Luger K.
  TITLE     Nucleosomes containing the histone variant H2A.Bbd organize only 118
            base pairs of DNA
  JOURNAL   EMBO J 23 (16), 3314-3324 (2004)
   PUBMED   15257289
REFERENCE   9  (bases 1 to 591)
  AUTHORS   Chadwick BP and Willard HF.
  TITLE     A novel chromatin protein, distantly related to histone H2A, is
            largely excluded from the inactive X chromosome
  JOURNAL   J Cell Biol 152 (2), 375-384 (2001)
   PUBMED   11266453
REFERENCE   10  (bases 1 to 591)
  AUTHORS   Naylor JA, Buck D, Green P, Williamson H, Bentley D and Giannelli F.
  TITLE     Investigation of the factor VIII intron 22 repeated region (int22h)
            and the associated inversion junctions
  JOURNAL   Hum Mol Genet 4 (7), 1217-1224 (1995)
   PUBMED   8528212
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: HY015568.1, HY018408.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000354514.6/ ENSP00000346509.5
            RefSeq Select criteria :: based on single protein-coding transcript
            replication-independent histone :: PMID: 25731851
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC234781.7.
            On Dec 3, 2019 this sequence version replaced NM_001017991.2.
            Summary: Histones are basic nuclear proteins that are responsible
            for the nucleosome structure of the chromosomal fiber in
            eukaryotes. Nucleosomes consist of approximately 146 bp of DNA
            wrapped around a histone octamer composed of pairs of each of the
            four core histones (H2A, H2B, H3, and H4). The chromatin fiber is
            further compacted through the interaction of a linker histone, H1,
            with the DNA between the nucleosomes to form higher order chromatin
            structures. This gene encodes a replication-independent histone
            that is a member of the histone H2A family. This gene is part of a
            region that is repeated three times on chromosome X, once in intron
            22 of the F8 gene and twice closer to the Xq telomere. This record
            represents the middle copy. [provided by RefSeq, Oct 2015].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..591
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..591
                     /gene="H2AB2"
                     /gene_synonym="H2A.B.1; H2A.Bbd; H2AB3; H2AFB2"
                     /note="H2A.B variant histone 2"
                     /db_xref="GeneID:474381"
                     /db_xref="HGNC:HGNC:18298"
                     /db_xref="MIM:301038"
     misc_feature    40..42
                     /gene="H2AB2"
                     /gene_synonym="H2A.B.1; H2A.Bbd; H2AB3; H2AFB2"
                     /note="upstream in-frame stop codon"
     CDS             79..426
                     /gene="H2AB2"
                     /gene_synonym="H2A.B.1; H2A.Bbd; H2AB3; H2AFB2"
                     /note="H2A Barr body deficient; H2A histone family member
                     B2"
                     /codon_start=1
                     /product="histone H2A-Bbd type 2/3"
                     /protein_id="NP_001017991.1"
                     /db_xref="CCDS:CCDS35461.1"
                     /db_xref="GeneID:474381"
                     /db_xref="HGNC:HGNC:18298"
                     /db_xref="MIM:301038"
                     /translation="MPRRRRRRGSSGAGGRGRTCSRTVRAELSFSVSQVERSLREGHYA
                     QRLSRTAPVYLAAVIEYLTAKVLELAGNEAQNSGERNITPLLLDMVVHNDRLLSTLFNT
                     TTISQVAPGED"
     misc_feature    79..141
                     /gene="H2AB2"
                     /gene_synonym="H2A.B.1; H2A.Bbd; H2AB3; H2AFB2"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C5Z0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    337..423
                     /gene="H2AB2"
                     /gene_synonym="H2A.B.1; H2A.Bbd; H2AB3; H2AFB2"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C5Z0.1);
                     Region: Docking domain"
ORIGIN
        1 actggacgcg gtaactgtcc tcttgagagc catcttgcct agctgggcca agccgagata
       61 gcacactcaa cgcccagcat gccgaggagg aggagacgcc gagggtcctc cggtgctggc
      121 ggccgggggc ggacctgctc tcgcaccgtc cgagcggagc tttcgttttc agtgagccag
      181 gtggagcgca gtctacggga gggccactac gctcagcgcc tgagtcgcac ggcgccggtc
      241 tacctcgctg cggttattga gtacctgacg gccaaggtcc tggagctggc gggcaacgag
      301 gcccagaaca gcggagagcg gaacatcact cccctgctgc tggacatggt ggttcacaac
      361 gacaggctac tgagcaccct tttcaacacg accaccatct ctcaagtggc ccctggcgag
      421 gactagcttc tgacacccgg cccctgggac ctgacaggtc cactcgtcca cccacccggc
      481 cccaaatccc ccggcctgaa cccccggcct taaacaccct ccccccacaa cccaggcccc
      541 aaagtcttgg gccttcatta attctgtcaa taaaatgttt caaggaagcc a
//
LOCUS       NM_001017992            2794 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens actin beta like 2 (ACTBL2), mRNA.
ACCESSION   NM_001017992
VERSION     NM_001017992.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2794)
  AUTHORS   Malek N, Michrowska A, Mazurkiewicz E, Mrowczynska E, Mackiewicz P
            and Mazur AJ.
  TITLE     The origin of the expressed retrotransposed gene ACTBL2 and its
            influence on human melanoma cells' motility and focal adhesion
            formation
  JOURNAL   Sci Rep 11 (1), 3329 (2021)
   PUBMED   33558623
  REMARK    GeneRIF: The origin of the expressed retrotransposed gene ACTBL2 and
            its influence on human melanoma cells' motility and focal adhesion
            formation. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2794)
  AUTHORS   Ghazanfar S, Fatima I, Aslam M, Musharraf SG, Sherman NE, Moskaluk
            C, Fox JW, Akhtar MW and Sadaf S.
  TITLE     Identification of actin beta-like 2 (ACTBL2) as novel, upregulated
            protein in colorectal cancer
  JOURNAL   J Proteomics 152, 33-40 (2017)
   PUBMED   27989943
  REMARK    GeneRIF: identified a novel protein, ACTBL2, which was demonstrated
            to be upregulated in colorectal cancer
REFERENCE   3  (bases 1 to 2794)
  AUTHORS   Permuth JB, Pirie A, Ann Chen Y, Lin HY, Reid BM, Chen Z, Monteiro
            A, Dennis J, Mendoza-Fandino G, Anton-Culver H, Bandera EV, Bisogna
            M, Brinton L, Brooks-Wilson A, Carney ME, Chenevix-Trench G, Cook
            LS, Cramer DW, Cunningham JM, Cybulski C, D'Aloisio AA, Anne Doherty
            J, Earp M, Edwards RP, Fridley BL, Gayther SA, Gentry-Maharaj A,
            Goodman MT, Gronwald J, Hogdall E, Iversen ES, Jakubowska A, Jensen
            A, Karlan BY, Kelemen LE, Kjaer SK, Kraft P, Le ND, Levine DA,
            Lissowska J, Lubinski J, Matsuo K, Menon U, Modugno R, Moysich KB,
            Nakanishi T, Ness RB, Olson S, Orlow I, Pearce CL, Pejovic T, Poole
            EM, Ramus SJ, Anne Rossing M, Sandler DP, Shu XO, Song H, Taylor JA,
            Teo SH, Terry KL, Thompson PJ, Tworoger SS, Webb PM, Wentzensen N,
            Wilkens LR, Winham S, Woo YL, Wu AH, Yang H, Zheng W, Ziogas A,
            Phelan CM, Schildkraut JM, Berchuck A, Goode EL, Pharoah PD and
            Sellers TA.
  CONSRTM   AOCS Study Group; Australian Cancer Study (Ovarian Cancer); Ovarian
            Cancer Association Consortium
  TITLE     Exome genotyping arrays to identify rare and low frequency variants
            associated with epithelial ovarian cancer risk
  JOURNAL   Hum Mol Genet 25 (16), 3600-3612 (2016)
   PUBMED   27378695
  REMARK    GeneRIF: Four rare missense variants were identified (ACTBL2
            rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809
            (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R
            rs104894668 had a large effect size (OR = 9.66).
REFERENCE   4  (bases 1 to 2794)
  AUTHORS   Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y,
            van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ,
            Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari
            K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B,
            Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M,
            Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu
            KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N,
            Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco
            B, Giles RH, Ueffing M, Russell RB and Roepman R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2794)
  AUTHORS   Hodebeck M, Scherer C, Wagner AH, Hecker M and Korff T.
  TITLE     TonEBP/NFAT5 regulates ACTBL2 expression in biomechanically
            activated vascular smooth muscle cells
  JOURNAL   Front Physiol 5, 467 (2014)
   PUBMED   25520667
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2794)
  AUTHORS   Bohm D, Keller K, Pieter J, Boehm N, Wolters D, Siggelkow W,
            Lebrecht A, Schmidt M, Kolbl H, Pfeiffer N and Grus FH.
  TITLE     Comparison of tear protein levels in breast cancer patients and
            healthy controls using a de novo proteomic approach
  JOURNAL   Oncol Rep 28 (2), 429-438 (2012)
   PUBMED   22664934
REFERENCE   7  (bases 1 to 2794)
  AUTHORS   Joseph R, Srivastava OP and Pfister RR.
  TITLE     Downregulation of beta-actin gene and human antigen R in human
            keratoconus
  JOURNAL   Invest Ophthalmol Vis Sci 53 (7), 4032-4041 (2012)
   PUBMED   22562506
  REMARK    GeneRIF: -actin is downregulated in the corneal stroma of patients
            with KC, which may be related to reduced levels of a stabilizing
            factor (HuR) for beta-actin mRNA. Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2794)
  AUTHORS   Tao S, Wang Z, Feng J, Hsu FC, Jin G, Kim ST, Zhang Z, Gronberg H,
            Zheng LS, Isaacs WB, Xu J and Sun J.
  TITLE     A genome-wide search for loci interacting with known prostate cancer
            risk-associated genetic variants
  JOURNAL   Carcinogenesis 33 (3), 598-603 (2012)
   PUBMED   22219177
REFERENCE   9  (bases 1 to 2794)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   10  (bases 1 to 2794)
  AUTHORS   Chang KW, Yang PY, Lai HY, Yeh TS, Chen TC and Yeh CT.
  TITLE     Identification of a novel actin isoform in hepatocellular carcinoma
  JOURNAL   Hepatol Res 36 (1), 33-39 (2006)
   PUBMED   16824795
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BX648504.1, BC137470.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000423391.3/ ENSP00000416706.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC025470.5 and BX648504.1.
            On Nov 23, 2018 this sequence version replaced NM_001017992.3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2794
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q11.2"
     gene            1..2794
                     /gene="ACTBL2"
                     /gene_synonym="ACT"
                     /note="actin beta like 2"
                     /db_xref="GeneID:345651"
                     /db_xref="HGNC:HGNC:17780"
                     /db_xref="MIM:614835"
     misc_feature    6..8
                     /gene="ACTBL2"
                     /gene_synonym="ACT"
                     /note="upstream in-frame stop codon"
     CDS             105..1235
                     /gene="ACTBL2"
                     /gene_synonym="ACT"
                     /note="actin-like protein; kappa-actin"
                     /codon_start=1
                     /product="beta-actin-like protein 2"
                     /protein_id="NP_001017992.1"
                     /db_xref="CCDS:CCDS34163.1"
                     /db_xref="GeneID:345651"
                     /db_xref="HGNC:HGNC:17780"
                     /db_xref="MIM:614835"
                     /translation="MTDNELSALVVDNGSGMCKAGFGGDDAPRAVFPSMIGRPRHQGVM
                     VGMGQKDCYVGDEAQSKRGVLTLKYPIEHGVVTNWDDMEKIWYHTFYNELRVAPDEHPI
                     LLTEAPLNPKINREKMTQIMFEAFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHI
                     VPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYNFTTTAEREIVRDVKEKLCYVAL
                     DFEQEMVRAAASSSPERSYELPDGQVITIGNERFRCPEAIFQPSFLGIESSGIHETTFN
                     SIMKCDVDIRKDLYANTVLSGGSTMYPGIADRMQKEIITLAPSTMKIKIIAPPERKYSV
                     WIGGSILASLSTFQQMWISKQEYDEAGPPIVHRKCF"
     regulatory      1755..1760
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTBL2"
                     /gene_synonym="ACT"
                     /note="hexamer: AATAAA"
     polyA_site      1775
                     /gene="ACTBL2"
                     /gene_synonym="ACT"
     regulatory      2772..2777
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTBL2"
                     /gene_synonym="ACT"
                     /note="hexamer: ATTAAA"
     polyA_site      2794
                     /gene="ACTBL2"
                     /gene_synonym="ACT"
                     /note="major polyA site"
ORIGIN
        1 gtgtctgaaa gcatttctgg agtgttttag gcctgttcac tttctcttac tcactgtcta
       61 ttcacttgtc ctgttcactc gtctggaaga tctcagccag caccatgact gacaatgagc
      121 tgtctgcctt ggtagtggat aatgggtcag ggatgtgcaa ggcaggcttt ggtggtgacg
      181 atgccccccg ggctgtgttc ccctccatga tagggcgtcc tcgacaccag ggcgttatgg
      241 taggcatggg ccagaaggac tgctacgtgg gagatgaggc tcagagcaag agaggcgtcc
      301 tgaccctgaa gtatcctatc gagcatggag tggtcaccaa ctgggacgat atggaaaaga
      361 tctggtacca cacattctac aatgagctcc gtgtggcacc agatgagcat cccatcctcc
      421 tcaccgaggc acccctgaac cccaagatca accgggaaaa gatgactcag atcatgttcg
      481 aggctttcaa cacaccagcc atgtatgtcg ccatccaggc tgtgctgtcc ctctatgcct
      541 caggacggac cacaggcatc gtgatggatt ctggggatgg ggtcactcac atcgtgccca
      601 tctatgaagg ttatgccctg cctcatgcca ttctacgcct ggatctggca gggagagacc
      661 tgactgatta cctcatgaag atcctgacag agcgaggcta taacttcacc accactgctg
      721 agcgggagat tgtgcgagat gtcaaagaga agctgtgcta cgtagccctg gactttgagc
      781 aggagatggt cagggcagcc gcatcctcct caccggaacg gagctatgaa cttcctgatg
      841 ggcaggtgat caccattggg aatgaacgct tccgatgccc tgaagccatt ttccagcctt
      901 cctttctggg cattgagtcc agtgggatcc atgagacaac cttcaactct atcatgaagt
      961 gcgatgtgga tattcgcaag gatctctatg ccaacaccgt gttatctgga gggagcacca
     1021 tgtacccagg cattgctgac aggatgcaga aagaaatcat aaccctggca cccagcacca
     1081 tgaaaatcaa gatcatagct cccccagagc ggaagtattc tgtttggatt gggggctcca
     1141 tccttgccag cctgtccaca ttccagcaga tgtggatcag taagcaggaa tatgatgagg
     1201 ctggtcctcc tatcgttcac agaaaatgtt tctgaatggg cttccatatt agtgggctta
     1261 cattttccct tttcctaggt cacagtgatg gtactgcttt tatccgcttt cagtagaatc
     1321 gaggtaaata cgtcactctt cctagtgtaa accagcaaac ccatctctcc atccaagtaa
     1381 cctgggctct tacccagata accacatccg gttctccatc aagtgaaggt gaattctaat
     1441 accatattcc tttttctttg cctatactgt tcaaagatag gtaggccagc ttaaatacat
     1501 ataagtgaca aggagtaaaa tcacgagaaa tgtcatttca gaatggataa ctataattat
     1561 caagctttaa aacttagttc tcgctaaaat atttaacaag aacaggctgt ataaacttgt
     1621 ttaaaaaaaa aaggtgcgta tgcatttagc agccgtgtct tactagttaa gtatctttgt
     1681 tttgtttact tctttgtatg gagataatga attataaagt tcaataatat ccatatatac
     1741 ataagcacca gggaaataaa atatattgtg aaatatgctg atgtatctag ctatctgaac
     1801 agctaatgtg aatttcttta ctcccaaaag tcatcgttgt actaggtaca tattttaatt
     1861 gtttccctta ctaaataagc ataatgagac agccaccatt ccattaatgt ttataaatca
     1921 tctaaatttt cagctcatag tggagttctg ctggtcaaat tatattttaa tatctttctt
     1981 actgaacctt ctcataccaa aactacagac aatgtctaat tcttaagaga gatagatatt
     2041 ataatatcaa attaatgtca ttatggtaca atttgacaga ggtaatttta tttctatttc
     2101 ttagtgtaat agcacatctt aaataatttc tgtagaccag gattacagat acttctcttg
     2161 tgcaaggatt tcactgtggg aaaatatagc tgcagcatct ttattaatta tacattttac
     2221 taccagtata ctaacacagt tttatccttg gaaagctttt agaataattc tactttatta
     2281 tgtccagtaa ctagcaatac ttatttatgc aaagtgtctc tgagatacta acatctttga
     2341 aaatatcaat gtatgttcct ataatgtcta aaatatttta gttactccag tgatgattta
     2401 ttaaccaatt ttaagtacca gtatgtttat tccaatctat gcagtgattt ctgaatattt
     2461 ggatatcagc attatttgta tttttcaggg taatttctga aaatttaaaa tatttatttg
     2521 gattgcttat tcaggcatta taaggtactc tggaggaagg aatcacttct ctttttttct
     2581 tagttgggaa acttgtactt atgttataaa tctttaaaat ggaatcagta agaatttttt
     2641 gtttaaggta atacttttca aataatttga ttattcctta ttggctttat ctgacaacat
     2701 aatctttaaa atgcatgtaa ccaaaattaa tctccaaaaa cactttattt tatataactt
     2761 gctttcagta cattaaaatt gcttcatact tgta
//
LOCUS       NM_001017995            7779 bp    mRNA    linear   PRI 26-JUN-2023
DEFINITION  Homo sapiens SH3 and PX domains 2B (SH3PXD2B), transcript variant 1,
            mRNA.
ACCESSION   NM_001017995
VERSION     NM_001017995.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7779)
  AUTHORS   Zhu Y, Hu Y, Wang P, Dai X, Fu Y, Xia Y, Sun L and Ruan S.
  TITLE     Comprehensive bioinformatics and experimental analysis of SH3PXD2B
            reveals its carcinogenic effect in gastric carcinoma
  JOURNAL   Life Sci 326, 121792 (2023)
   PUBMED   37211344
  REMARK    GeneRIF: Comprehensive bioinformatics and experimental analysis of
            SH3PXD2B reveals its carcinogenic effect in gastric carcinoma.
REFERENCE   2  (bases 1 to 7779)
  AUTHORS   Jacksi M, Schad E, Buday L and Tantos A.
  TITLE     Absence of Scaffold Protein Tks4 Disrupts Several Signaling Pathways
            in Colon Cancer Cells
  JOURNAL   Int J Mol Sci 24 (2), 1310 (2023)
   PUBMED   36674824
  REMARK    GeneRIF: Absence of Scaffold Protein Tks4 Disrupts Several Signaling
            Pathways in Colon Cancer Cells. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 7779)
  AUTHORS   Szeder B, Tarnoki-Zach J, Lakatos D, Vas V, Kudlik G, Mero B,
            Koprivanacz K, Banyai L, Hamori L, Rona G, Czirok A, Furedi A and
            Buday AL.
  TITLE     Absence of the Tks4 Scaffold Protein Induces Epithelial-Mesenchymal
            Transition-Like Changes in Human Colon Cancer Cells
  JOURNAL   Cells 8 (11), 1343 (2019)
   PUBMED   31671862
  REMARK    GeneRIF: Absence of the Tks4 Scaffold Protein Induces
            Epithelial-Mesenchymal Transition-Like Changes in Human Colon Cancer
            Cells. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 7779)
  AUTHORS   Mehes E, Barath M, Gulyas M, Bugyik E, Geiszt M, Szoor A, Lanyi A
            and Czirok A.
  TITLE     Enhanced endothelial motility and multicellular sprouting is
            mediated by the scaffold protein TKS4
  JOURNAL   Sci Rep 9 (1), 14363 (2019)
   PUBMED   31591456
  REMARK    GeneRIF: Enhanced endothelial motility and multicellular sprouting
            is mediated by the scaffold protein TKS4. Erratum:[Sci Rep. 2020 Jul
            20;10(1):12293. PMID: 32686692] Publication Status: Online-Only
REFERENCE   5  (bases 1 to 7779)
  AUTHORS   Wilson GR, Sunley J, Smith KR, Pope K, Bromhead CJ, Fitzpatrick E,
            Di Rocco M, van Steensel M, Coman DJ, Leventer RJ, Delatycki MB,
            Amor DJ, Bahlo M and Lockhart PJ.
  TITLE     Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome
  JOURNAL   Eur J Hum Genet 22 (6), 741-747 (2014)
   PUBMED   24105366
REFERENCE   6  (bases 1 to 7779)
  AUTHORS   Iqbal Z, Cejudo-Martin P, de Brouwer A, van der Zwaag B, Ruiz-Lozano
            P, Scimia MC, Lindsey JD, Weinreb R, Albrecht B, Megarbane A, Alanay
            Y, Ben-Neriah Z, Amenduni M, Artuso R, Veltman JA, van Beusekom E,
            Oudakker A, Millan JL, Hennekam R, Hamel B, Courtneidge SA and van
            Bokhoven H.
  TITLE     Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes
            the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter
            Haar Syndrome
  JOURNAL   Am J Hum Genet 86 (2), 254-261 (2010)
   PUBMED   20137777
  REMARK    GeneRIF: These findings establish a role for TKS4 in Frank-Ter Haar
            syndrome and embryonic development.
REFERENCE   7  (bases 1 to 7779)
  AUTHORS   Gianni D, Diaz B, Taulet N, Fowler B, Courtneidge SA and Bokoch GM.
  TITLE     Novel p47(phox)-related organizers regulate localized NADPH oxidase
            1 (Nox1) activity
  JOURNAL   Sci Signal 2 (88), ra54 (2009)
   PUBMED   19755710
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 7779)
  AUTHORS   Weaver AM.
  TITLE     Regulation of cancer invasion by reactive oxygen species and Tks
            family scaffold proteins
  JOURNAL   Sci Signal 2 (88), pe56 (2009)
   PUBMED   19755707
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 7779)
  AUTHORS   Buschman MD, Bromann PA, Cejudo-Martin P, Wen F, Pass I and
            Courtneidge SA.
  TITLE     The novel adaptor protein Tks4 (SH3PXD2B) is required for functional
            podosome formation
  JOURNAL   Mol Biol Cell 20 (5), 1302-1311 (2009)
   PUBMED   19144821
REFERENCE   10  (bases 1 to 7779)
  AUTHORS   Vogel CI, Greene B, Scherag A, Muller TD, Friedel S, Grallert H,
            Heid IM, Illig T, Wichmann HE, Schafer H, Hebebrand J and Hinney A.
  TITLE     Non-replication of an association of CTNNBL1 polymorphisms and
            obesity in a population of Central European ancestry
  JOURNAL   BMC Med Genet 10, 14 (2009)
   PUBMED   19228371
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ109556.1, AB430862.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000311601.6/ ENSP00000309714.5
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011407.6, AK128871.1,
            BC038561.1, AC090064.3, AC008671.6 and CA308160.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001017995.2.
            Summary: This gene encodes an adapter protein that is characterized
            by a PX domain and four Src homology 3 domains. The encoded protein
            is required for podosome formation and is involved in cell adhesion
            and migration of numerous cell types. Mutations in this gene are
            the cause of Frank-ter Haar syndrome (FTHS), and also Borrone
            Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of
            this gene results in multiple transcript variants. [provided by
            RefSeq, Apr 2015].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7779
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.1"
     gene            1..7779
                     /gene="SH3PXD2B"
                     /gene_synonym="FAD49; FTHS; HOFI; KIAA1295; TKS4; TSK4"
                     /note="SH3 and PX domains 2B"
                     /db_xref="GeneID:285590"
                     /db_xref="HGNC:HGNC:29242"
                     /db_xref="MIM:613293"
     CDS             174..2909
                     /gene="SH3PXD2B"
                     /gene_synonym="FAD49; FTHS; HOFI; KIAA1295; TKS4; TSK4"
                     /note="isoform a is encoded by transcript variant 1;
                     adapter protein HOFI; adaptor protein HOFI; tyrosine kinase
                     substrate with four SH3 domains; factor for adipocyte
                     differentiation 49"
                     /codon_start=1
                     /product="SH3 and PX domain-containing protein 2B isoform
                     a"
                     /protein_id="NP_001017995.1"
                     /db_xref="CCDS:CCDS34291.1"
                     /db_xref="GeneID:285590"
                     /db_xref="HGNC:HGNC:29242"
                     /db_xref="MIM:613293"
                     /translation="MPPRRSIVEVKVLDVQKRRVPNKHYVYIIRVTWSSGSTEAIYRRY
                     SKFFDLQMQMLDKFPMEGGQKDPKQRIIPFLPGKILFRRSHIRDVAVKRLIPIDEYCKA
                     LIQLPPYISQCDEVLQFFETRPEDLNPPKEEHIGKKKSGGDQTSVDPMVLEQYVVVANY
                     QKQESSEISLSVGQVVDIIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEE
                     EEKYTVIYPYTARDQDEMNLERGAVVEVIQKNLEGWWKIRYQGKEGWAPASYLKKNSGE
                     PLPPKPGPGSPSHPGALDLDGVSRQQNAVGREKELLSSQRDGRFEGRPVPDGDAKQRSP
                     KMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEVIE
                     KNLSGWWYIQIEDKEGWAPATFIDKYKKTSNASRPNFLAPLPHEVTQLRLGEAAALENN
                     TGSEATGPSRPLPDAPHGVMDSGLPWSKDWKGSKDVLRKASSDMSASAGYEEISDPDME
                     EKPSLPPRKESIIKSEGELLERERERQRTEQLRGPTPKPPGVILPMMPAKHIPPARDSR
                     RPEPKPDKSRLFQLKNDMGLECGHKVLAKEVKKPNLRPISKSKTDLPEEKPDATPQNPF
                     LKSRPQVRPKPAPSPKTEPPQGEDQVDICNLRSKLRPAKSQDKSLLDGEGPQAVGGQDV
                     AFSRSFLPGEGPGRAQDRTGKQDGLSPKEISCRAPPRPAKTTDPVSKSVPVPLQEAPQQ
                     RPVVPPRRPPPPKKTSSSSRPLPEVRGPQCEGHESRAAPTPGRALLVPPKAKPFLSNSL
                     GGQDDTRGKGSLGPWGTGKIGENREKAAAASVPNADGLKDSLYVAVADFEGDKDTSSFQ
                     EGTVFEVREKNSSGWWFCQVLSGAPSWEGWIPSNYLRKKP"
     misc_feature    246..248
                     /gene="SH3PXD2B"
                     /gene_synonym="FAD49; FTHS; HOFI; KIAA1295; TKS4; TSK4"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:A2AAY5; propagated from
                     UniProtKB/Swiss-Prot (A1X283.3); phosphorylation site"
     misc_feature    996..1271
                     /gene="SH3PXD2B"
                     /gene_synonym="FAD49; FTHS; HOFI; KIAA1295; TKS4; TSK4"
                     /note="propagated from UniProtKB/Swiss-Prot (A1X283.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1008..1010
                     /gene="SH3PXD2B"
                     /gene_synonym="FAD49; FTHS; HOFI; KIAA1295; TKS4; TSK4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (A1X283.3); phosphorylation site"
     misc_feature    1044..1046
                     /gene="SH3PXD2B"
                     /gene_synonym="FAD49; FTHS; HOFI; KIAA1295; TKS4; TSK4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (A1X283.3); phosphorylation site"
     misc_feature    1545..2675
                     /gene="SH3PXD2B"
                     /gene_synonym="FAD49; FTHS; HOFI; KIAA1295; TKS4; TSK4"
                     /note="propagated from UniProtKB/Swiss-Prot (A1X283.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1668..1670
                     /gene="SH3PXD2B"
                     /gene_synonym="FAD49; FTHS; HOFI; KIAA1295; TKS4; TSK4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A2AAY5; propagated from
                     UniProtKB/Swiss-Prot (A1X283.3); phosphorylation site"
     misc_feature    1755..1757
                     /gene="SH3PXD2B"
                     /gene_synonym="FAD49; FTHS; HOFI; KIAA1295; TKS4; TSK4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A2AAY5; propagated from
                     UniProtKB/Swiss-Prot (A1X283.3); phosphorylation site"
     misc_feature    2700..2702
                     /gene="SH3PXD2B"
                     /gene_synonym="FAD49; FTHS; HOFI; KIAA1295; TKS4; TSK4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A2AAY5; propagated from
                     UniProtKB/Swiss-Prot (A1X283.3); phosphorylation site"
     regulatory      7739..7744
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SH3PXD2B"
                     /gene_synonym="FAD49; FTHS; HOFI; KIAA1295; TKS4; TSK4"
                     /note="hexamer: AATAAA"
     polyA_site      7779
                     /gene="SH3PXD2B"
                     /gene_synonym="FAD49; FTHS; HOFI; KIAA1295; TKS4; TSK4"
                     /note="major polyA site"
ORIGIN
        1 ggagtgcgcg ccgagcgaag ggcggcggcg gtggcggcgg cggctcgtgc tcggccccgg
       61 ctgcgattgc gctcagctcc aggttccctg cccgcggcgg cgcgccccca gcgctccctg
      121 caccccgcgc cacccgcacc cgcgctcggc ccgctgcggg cggaggagcg gccatgccgc
      181 cgcggcgcag catcgtggag gtgaaggtgc tagacgtgca gaagcggcgg gtgcccaaca
      241 agcattatgt ctacatcatc cgggtcacgt ggtccagcgg ctccaccgag gccatttacc
      301 ggcgctacag caagtttttt gacctccaga tgcagatgtt ggacaaattt cccatggaag
      361 gaggacagaa ggaccccaag cagcggatca tcccctttct gccaggtaag attctcttca
      421 gacgaagcca catccgggac gtggctgtca aacgcctgat accaattgat gaatactgta
      481 aggccctcat ccagctgccc ccctacatct ctcagtgtga tgaggtgctg cagttctttg
      541 agacaagacc tgaggacctg aatcccccca aagaggagca cattgggaaa aagaaatctg
      601 ggggtgacca aacctcagtg gaccccatgg tcctggagca gtatgtggtg gtagccaact
      661 accagaagca ggagagttcg gagatcagcc tcagcgtggg gcaggtggtg gacatcatcg
      721 agaagaatga gtcaggttgg tggttcgtca gcactgccga ggagcaaggc tgggtccctg
      781 caacgtgcct cgaaggccag gatggggtgc aggatgagtt ttctctgcag cctgaagaag
      841 aggagaagta cacagtcatc tacccgtaca cagctcggga ccaggatgaa atgaacctgg
      901 agagaggggc tgtggtggag gtcatccaga aaaacctgga aggctggtgg aagatcaggt
      961 accagggcaa agaaggctgg gcccccgcct cctacctaaa gaagaacagt ggggagccct
     1021 tgcccccgaa gccaggccct ggctcaccct cccacccggg tgcccttgac ttggatggtg
     1081 tttcccggca gcagaacgcg gtgggcaggg agaaggagct gctcagcagc cagagggacg
     1141 ggcggtttga aggccgcccg gtgcccgacg gtgacgccaa gcagagatca ccaaagatga
     1201 ggcagagacc ccctcctcgc cgggacatga ccattcctcg aggcctcaac ctgccgaagc
     1261 cgcccatccc gccccaagtg gaggaagagt attacaccat cgccgaattc cagacaacca
     1321 tcccagacgg catcagcttc caggcaggcc tgaaggtcga ggtgatcgag aaaaacttga
     1381 gtggctggtg gtacattcag attgaagata aggaagggtg ggccccggcc accttcattg
     1441 acaagtacaa gaagacgagc aacgcgtcga gacccaactt tctggctccc ctgccccacg
     1501 aggtgaccca gctccggctg ggggaagcag cagcgctgga gaacaacacg ggcagcgaag
     1561 ccacgggccc ctcccggccc ctgcctgacg caccgcatgg tgtcatggac tcggggttgc
     1621 catggtctaa agactggaag ggcagtaagg atgtcctgag gaaggcatct tcagacatgt
     1681 ctgcgtcagc aggctacgag gagatctcag accccgacat ggaggagaag cccagcctcc
     1741 ctccgcggaa agaatccatc atcaagtcgg agggggagct gctggagcgg gagcgggagc
     1801 ggcagaggac ggagcagctc cggggcccca ctcccaagcc tccgggcgtg attttgccga
     1861 tgatgccagc caaacacatc cctccagccc gggacagcag gaggccagag cccaaacctg
     1921 acaaaagcag actgttccag ctgaaaaatg acatggggct ggagtgtggc cacaaggtct
     1981 tggccaagga agtgaagaag cccaacctcc ggcccatctc caaatccaaa actgacctgc
     2041 cagaggagaa gccagatgcc actccccaga atcccttctt gaagtccaga cctcaggtta
     2101 ggccaaaacc agctccttcc cccaaaacgg agccacctca gggcgaagac caagtcgaca
     2161 tctgcaacct caggagtaag ctcaggcctg ccaagtccca agacaagtcc ttgttggatg
     2221 gggagggccc ccaggcagta gggggccaag acgtggcctt cagccgaagc ttcctcccag
     2281 gagaggggcc tggccgcgcc caggacagga cgggcaaaca ggatggtctc agcccaaaag
     2341 agatttcctg cagagcccct ccgaggccag ccaagaccac agatcctgtg tctaagagcg
     2401 tgcctgttcc tctccaagag gctccccagc agagacctgt ggtcccaccc cgcagaccac
     2461 ctcccccaaa gaaaacctct tcgtcatcca ggccgctccc agaggtcaga ggtccacagt
     2521 gtgaaggcca cgaaagcagg gcagctccca ccccaggccg tgctctcctc gtccctccaa
     2581 aagccaaacc ttttctctcc aactctttgg ggggccagga tgacacgcga ggcaaaggca
     2641 gcctggggcc atgggggacc ggcaagattg gagaaaacag ggagaaagca gctgcagcct
     2701 ctgtccccaa tgccgacggc ctgaaggact ctttgtatgt ggccgtggcc gactttgaag
     2761 gagacaaaga caccagcagc ttccaggaag ggacagtgtt tgaagtccgg gagaagaaca
     2821 gcagtggctg gtggttctgc caggtcctga gcggagcccc ttcctgggaa gggtggattc
     2881 cttccaacta tctcagaaag aagccgtagc cgactccctt tctgcctaga gggcccgctg
     2941 gtccttgctg gctttaccca cgtatttaat acgcctctta atttatcatt ctccacgcag
     3001 cttccaaggc agacagactc tggggtactg tgacttcttg cctcccatgg gtggagagtg
     3061 agtttcggac acctcgggcg cccctgggcc tgatccctcc tatcacagca tcactggagg
     3121 ctcagaaccc acagcctttg ctttctgtcc atgtcagcat ccctgcctta agagaactcc
     3181 tcctggccaa tggcattgcc acccagcagt gggaccaaga ctctccaaga cctccaggac
     3241 tggatcccat tgcctggaga aactccagca agggtctctc atggcttgga catggcacag
     3301 taaggggcag ccaacccagt ccatgatgac ttttgctcca acttcttcat gtttctaaaa
     3361 gcccagtggc tttattcact cctcctaaat tgcctgctac cagaaggaac ttcatcctga
     3421 agaaatgcat tccattacca gttccaggga aagtgtcccc ttccccaaag cctcaggccc
     3481 gtgggcctct gaggttccac tggatgcggc tcccccagga gtgggcctgg agatccgctc
     3541 agccgccctg cctcccacct tctatcttgg gaccgtggtc agccctgaag ggtggttcca
     3601 gccccgcgta tgctgcgctt tgctgctgca ggctccggtc cctccagggc ttttcaatga
     3661 gagttcccac cccaacttgg agcatttcat ttttgcctac ctaaagcaag aatctcaaag
     3721 tttgtttgaa taagaggccc attcacaagt cgtgcccttg tgagcacccc tttgctgagt
     3781 gcctcgtggg tgccaaacac tgtacttggc gctttgcatt catgctttga ccctcacaac
     3841 ctccctttat agatgaggaa attcacgctc catgtgccca aggacacacc agccaggagg
     3901 aagagggaag aggatttgag tccaggcctg cctgacttca gtgcctgtgc cctcccctct
     3961 gtaaaagaca aaccaggcag ggaagagata gaagctggct aagtggtggc caagtggctt
     4021 cattgtgagg ggggtgaggg ggcattcgtg gctgctccca cacccaccat ccctccagcc
     4081 cacagcagcc tataccaaag gctgccctgg actcaacagc tgcatctcca tgacaggaga
     4141 atgccagggt cctggtggtt gacacagagc cctgttccct cttctaagct gttgccccct
     4201 ggggaataga gcttatggag caacgggagc tgaggtggcc tcgagggcca gcctggaggg
     4261 ctctgagcat agcatgcagc ggtcccatag ggaggcaggt aaccaagggc caggcagagc
     4321 tgcttcctgt gcctctccgg catttgtaat gtttttttct tttttcacgc actgccaaat
     4381 ctgttttctc ccttgaagaa acccagggca gatgtggtca tctgtcaaac tgaggtctgg
     4441 agaggcatga ctaaatcact gcagaagcaa aatcaggacc cagcatttct agctcccagc
     4501 ccagagtaag agagcagagc agaacccctt cccattctac ccgaccgagg cagccctgcc
     4561 ctgccctgcc ccgcccctcc ccaccctgcc ctgccccaga gatctccagt tcacagtgtt
     4621 catcaggcga gatacttttg gacccacaaa gccagttttt tggggggatg ctcagtgtct
     4681 acctgcagtg ccaaagtttt gcttgaacag ccctcttctg ccgcgcctcc cagctccacc
     4741 ccctatcacg tgggtgctgg ctgcttctgc gtgaggagct tcctctgatc acctgtagca
     4801 tctttagtgc cttcgtccag tcggcctgca aatcccattt cccagagagg cttgggcagg
     4861 gcccacttgc cacttggccc tgtgcccaga gcgttggggg cagatggcag ccaggggaag
     4921 aagggaggtg gggaagggcc gccaccgctt gagggtcccc tcccttgaga ggaggcccca
     4981 tggcagtttt cctgagttct tgatccactt tggtttaaac aacttttgtg aagctatgtg
     5041 agatttgact gcatttcaaa agacaaaaca catgtttttt tctgatttgc tctttgcctt
     5101 tcagcgacgc tttcagatac tttgtgagtg tctactctgt gctaggtgct gagtagactg
     5161 ggatgtgtgt ggctccatcc ctggctggaa gagctttgag tcctgtctgc tgacttcact
     5221 gaaggagttt ctctcttgct tcattccttc ctcccggggg tcagctgggt aggagcagac
     5281 ttgccctgcc ttcctctagg cagaaagttt tcctgcaaat gaaagaatct gccattctct
     5341 tttgctatga tgatgatgat tattctgaca tgacccgcgg gtactgaagc cacagtcctc
     5401 tctgttcact gttctctcct tgagtcatat ctatggcctg aggacgtctg tatccagctc
     5461 cttttcctac aatggtagac acttccccag gcagtgggtg ggtcagggtg gccagtcact
     5521 ctcctagctg tccttgcctg gggacttaga tttaccccat ccaggactgt ggtcgctatt
     5581 ctgtgagcga ttgatggcgc atatgcagaa ctcccctgga gtcatggctc tagaaagtgt
     5641 ccaggcccat cgtgacaatg gtgccaagca ccgggctggt gaccagtgcc taaacacaca
     5701 cgctccttta atccttacgg caagcctgtg aggcggatag gaccagccct gatctatagt
     5761 gagaaaatta aggttcagag ggagaaggtc caaatagtgg ccaagctggg actgagatct
     5821 cgagtttggg tttgtttggt tttgttgttg ttgttctttc cctcgtgtcc atgacttttc
     5881 tctgccatta gcagggaagt gtgcggaggg cttccaggga atcaagtgac cctccctctg
     5941 aatttcggtg cctcttcccc ccgccccttg ctcacacatt tcagtaggtc acaggccaaa
     6001 tggcagccca aaaggtgggc agagattttt ttttcttccc ctcacccctg cttattaaca
     6061 caattgtgac aactacttta ccttacatcc cagggcaaac ggacagcttg cggtacctcc
     6121 aaaaatttgg aaaaccctga gtctaagacc acctcttgat aaaagaggcc tttgctcaca
     6181 tgttctgctc ggaatctttc tttgccattg gtgggtgtat gtcgtcccag ctgagactgc
     6241 gggagagctg agctccagct taaaccgctt ttaatggccc ttccctactg ggggatcgct
     6301 ggagcccatg ccaggttacg gtagtcattt taaacctctg ccacaaggcc acgccataga
     6361 atcaatttcc aagtcaatgt tcttggccct aaaatgtttg cgcccactga ggatttcatt
     6421 accaggtgga agatggggga acatatgcca cgttaaagag caagtgctga gtgtgccagg
     6481 acttgagaag gaccttaggc tgaggagtgg acagtctggt atttatttcg cctctcccaa
     6541 gtacccagca cagagtggga aaaagaagaa actgctcctg ccttccagta gctggcaact
     6601 tgacatcaag aacaaaaaca ttcgtagctg gacccccgtc ctttcatcgt gcccaagtct
     6661 tacatgttgg cttaagctgc ccccttggag gccgtacctt tctctttgga ctgtgacagt
     6721 ggacacctaa cagcctgagc catgtgtggc tgtcttatcc cccaagggtt gtccaggccc
     6781 gttctgcagg gctgttgtgt agactgcaga catccatacc tcaccacaga ccaaagatga
     6841 cctcgtgtca gactgtgggc tgatgagagg tagagcagca tgcatcgagg cctgagggtg
     6901 cagggcgccc tctcttggcc tggaggaatt gctcctaact agagtaagtt tccacgaggg
     6961 tcccaggcag agctgcagag ctggaaccgg aggctccaca gtccttgcct gctcatggac
     7021 ctccttcaga gcacctttct acagactgga ctgcccagct ccgtggggtg gcatctggtt
     7081 tctggtgcta ttctgccaag ttatcgagct cctcctcatg tttcaacatt ccatcttccc
     7141 gtttctatcc tcgactccaa agtaagcctt cttagctcca atcagggatg aggggctcaa
     7201 cctcttctgt cctcaaagag gccaaacgca gtgccacagt cggtagcctt cacttttaga
     7261 tgtcctattc atgtaaaaaa gaaggtgccc ccaccaggct tacatcagca ataagcaatt
     7321 ctaatgcaac gatggtgtcc acattttacc ccagtgtgtg cccatgtatg cctttgtgcc
     7381 cgtgtaatta ttgttagcgc ccctttcact tagaggggtg atgataaact gtggccacct
     7441 tgattacaac ccacatttcc tgctttgggg agcttccaag taacaggcca tttcttacct
     7501 ccctccagga acagtgggca ctgcccacca cctcgtgtct gctcatagga tgacgctgga
     7561 gatccccaca cttactctac cctcttggca aattggcatt ccggtggtgg tttttgtttc
     7621 ctttaacaca ttaaataaat gagtatatag gatgtgaggg gaggggtgag aacaactagc
     7681 tgtagcatgt gtaggctata tactttacca tttgacttct ttcctttttt tttttttaaa
     7741 taaaaaaagt gcttgactgg tttcaagctt catcatgaa
//
LOCUS       NM_001017998            1201 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens G protein subunit gamma 10 (GNG10), transcript variant
            1, mRNA.
ACCESSION   NM_001017998
VERSION     NM_001017998.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1201)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1201)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1201)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (bases 1 to 1201)
  AUTHORS   Cardenas-Navia LI, Cruz P, Lin JC, Rosenberg SA and Samuels Y.
  CONSRTM   NISC Comparative Sequencing Program
  TITLE     Novel somatic mutations in heterotrimeric G proteins in melanoma
  JOURNAL   Cancer Biol Ther 10 (1), 33-37 (2010)
   PUBMED   20424519
  REMARK    GeneRIF: GNG10 mutations are associated with melanoma.
REFERENCE   5  (bases 1 to 1201)
  AUTHORS   Fowler CE, Aryal P, Suen KF and Slesinger PA.
  TITLE     Evidence for association of GABA(B) receptors with Kir3 channels and
            regulators of G protein signalling (RGS4) proteins
  JOURNAL   J Physiol 580 (Pt 1), 51-65 (2007)
   PUBMED   17185339
REFERENCE   6  (bases 1 to 1201)
  AUTHORS   Jiang G and Zhang BB.
  TITLE     Glucagon and regulation of glucose metabolism
  JOURNAL   Am J Physiol Endocrinol Metab 284 (4), E671-E678 (2003)
   PUBMED   12626323
  REMARK    Review article
REFERENCE   7  (bases 1 to 1201)
  AUTHORS   Ray K, Kunsch C, Bonner LM and Robishaw JD.
  TITLE     Isolation of cDNA clones encoding eight different human G protein
            gamma subunits, including three novel forms designated the gamma 4,
            gamma 10, and gamma 11 subunits
  JOURNAL   J Biol Chem 270 (37), 21765-21771 (1995)
   PUBMED   7665596
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279834.4834.1, SRR5189655.187991.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374293.5/ ENSP00000363411.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB504443.1, BC107574.1 and AW583403.1.
            On Nov 23, 2018 this sequence version replaced NM_001017998.3.
            Transcript Variant: This variant (1) represent the longer
            transcript. Both variants 1 and 2 encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1201
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.3"
     gene            1..1201
                     /gene="GNG10"
                     /note="G protein subunit gamma 10"
                     /db_xref="GeneID:2790"
                     /db_xref="HGNC:HGNC:4402"
                     /db_xref="MIM:604389"
     misc_feature    10..12
                     /gene="GNG10"
                     /note="upstream in-frame stop codon"
     CDS             31..237
                     /gene="GNG10"
                     /note="guanine nucleotide binding protein 10; guanine
                     nucleotide binding protein (G protein), gamma 10"
                     /codon_start=1
                     /product="guanine nucleotide-binding protein G(I)/G(S)/G(O)
                     subunit gamma-10"
                     /protein_id="NP_001017998.1"
                     /db_xref="CCDS:CCDS35107.1"
                     /db_xref="GeneID:2790"
                     /db_xref="HGNC:HGNC:4402"
                     /db_xref="MIM:604389"
                     /translation="MSSGASASALQRLVEQLKLEAGVERIKVSQAAAELQQYCMQNACK
                     DALLVGVPAGSNPFREPRSCALL"
     misc_feature    34..36
                     /gene="GNG10"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P50151.1); acetylation site"
     misc_feature    223..225
                     /gene="GNG10"
                     /note="Cysteine methyl ester. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P50151.1);
                     methylation site"
     regulatory      1180..1185
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNG10"
                     /note="hexamer: AATAAA"
     polyA_site      1201
                     /gene="GNG10"
                     /note="major polyA site"
ORIGIN
        1 agcagcccct aggagcccag cgccgccgcc atgtcctccg gggctagcgc gagcgccctg
       61 cagcgcttgg tagagcagct caagttggag gctggcgtgg agaggatcaa ggtctctcag
      121 gcagctgcag agcttcaaca gtactgtatg cagaatgcct gcaaggatgc cctgctggtg
      181 ggtgttccag ctggaagtaa ccccttccgg gagcctagat cctgtgcttt actctgaaga
      241 ctctaggaga gaagtttgct gaggaatgcc ttcaagcaca aagtgatgaa tgactgcctt
      301 caagtctcaa gaaaacactt ttccctaact tttagagata tttcagccct ttcctgtggc
      361 ctggtcctat agccaaaatc acagatattc atgagtttct acttgagtga gaaaactggg
      421 tgaaggaata gaattttaaa tagtaataac tgcttgtttt ttttgtgcaa gtacttttat
      481 acataagata aacaaaaacc ttaccaccaa acataccaaa atgcacctct ttcataagtg
      541 agttactaag atttctatac ctggaatatc atgtatgttt catttactgg atgtttacat
      601 tttaggaagg aaaatagttt tgtttattta aacaactgaa tacttataaa ctgttgttcc
      661 tggaagttat ttattccata aaaaatttgt tcttttgtca tgaatttata attcctaaat
      721 gaagaccaga aagtacaaat tgctgggagg aagaataggc tttattaatc aactgatgtc
      781 ttgatttttc taaatgggaa gattgcttta tttttaacac taattatggg agcagattct
      841 tagcaaactt ctttggaaaa gttaatgtta tgatgtgcat taggctgccc catcgtgtat
      901 ataaatgaag cagatttgat ttttgtattc ttacgtttct ctgctttgta gttgtggctg
      961 tacttaaaga aatacagaat ttcatatatt taaaaatgtt taaaatgtga cccacagaac
     1021 attgtaaatg attaaaaact aacatgaaaa tattacaacc taaaagaatt cttaacttca
     1081 caagtgtttt acttcgacga tgtgcctttg atttaatttg ggacactttt ttagaaggat
     1141 acattattcg tgtttgcaac ggtctttgaa gagcttggaa ataaaatttc tgcttaatta
     1201 a
//
LOCUS       NM_001018                501 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens ribosomal protein S15 (RPS15), transcript variant 2,
            mRNA.
ACCESSION   NM_001018
VERSION     NM_001018.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 501)
  AUTHORS   Zhao M, Liu A, Mo L, Wan G and Lu F.
  TITLE     The value of RPS15 and MRPS27 in ischemic stroke
  JOURNAL   Medicine (Baltimore) 102 (33), e34706 (2023)
   PUBMED   37603533
  REMARK    GeneRIF: The value of RPS15 and MRPS27 in ischemic stroke.
REFERENCE   2  (bases 1 to 501)
  AUTHORS   Zhao Y, Li Y, Zhu R, Feng R, Cui H, Yu X, Huang F, Zhang R, Chen X,
            Li L, Chen Y, Liu Y, Wang J, Du G and Liu Z.
  TITLE     RPS15 interacted with IGF2BP1 to promote esophageal squamous cell
            carcinoma development via recognizing m6A modification
  JOURNAL   Signal Transduct Target Ther 8 (1), 224 (2023)
   PUBMED   37264021
  REMARK    GeneRIF: RPS15 interacted with IGF2BP1 to promote esophageal
            squamous cell carcinoma development via recognizing m[6]A
            modification. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 501)
  AUTHORS   Rossler I, Weigl S, Fernandez-Fernandez J, Martin-Villanueva S,
            Strauss D, Hurt E, de la Cruz J and Pertschy B.
  TITLE     The C-terminal tail of ribosomal protein Rps15 is engaged in
            cytoplasmic pre-40S maturation
  JOURNAL   RNA Biol 19 (1), 560-574 (2022)
   PUBMED   35438042
  REMARK    GeneRIF: The C-terminal tail of ribosomal protein Rps15 is engaged
            in cytoplasmic pre-40S maturation.
REFERENCE   4  (bases 1 to 501)
  AUTHORS   Ntoufa S, Gerousi M, Laidou S, Psomopoulos F, Tsiolas G, Moysiadis
            T, Papakonstantinou N, Mansouri L, Anagnostopoulos A, Stavrogianni
            N, Pospisilova S, Plevova K, Makris AM, Rosenquist R and
            Stamatopoulos K.
  TITLE     RPS15 mutations rewire RNA translation in chronic lymphocytic
            leukemia
  JOURNAL   Blood Adv 5 (13), 2788-2792 (2021)
   PUBMED   34251413
  REMARK    GeneRIF: RPS15 mutations rewire RNA translation in chronic
            lymphocytic leukemia.
REFERENCE   5  (bases 1 to 501)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 501)
  AUTHORS   Roepcke S, Zhi D, Vingron M and Arndt PF.
  TITLE     Identification of highly specific localized sequence motifs in human
            ribosomal protein gene promoters
  JOURNAL   Gene 365, 48-56 (2006)
   PUBMED   16343812
REFERENCE   7  (bases 1 to 501)
  AUTHORS   Kitagawa M, Takasawa S, Kikuchi N, Itoh T, Teraoka H, Yamamoto H and
            Okamoto H.
  TITLE     rig encodes ribosomal protein S15. The primary structure of
            mammalian ribosomal protein S15
  JOURNAL   FEBS Lett 283 (2), 210-214 (1991)
   PUBMED   2044758
REFERENCE   8  (bases 1 to 501)
  AUTHORS   Shiga K, Yamamoto H and Okamoto H.
  TITLE     Isolation and characterization of the human homologue of rig and its
            pseudogenes: the functional gene has features characteristic of
            housekeeping genes
  JOURNAL   Proc Natl Acad Sci U S A 87 (9), 3594-3598 (1990)
   PUBMED   2159154
REFERENCE   9  (bases 1 to 501)
  AUTHORS   Marion MJ and Marion C.
  TITLE     Ribosomal proteins S2, S6, S10, S14, S15 and S25 are localized on
            the surface of mammalian 40 S subunits and stabilize their
            conformation. A study with immobilized trypsin
  JOURNAL   FEBS Lett 232 (2), 281-285 (1988)
   PUBMED   3378620
REFERENCE   10  (bases 1 to 501)
  AUTHORS   Inoue C, Shiga K, Takasawa S, Kitagawa M, Yamamoto H and Okamoto H.
  TITLE     Evolutionary conservation of the insulinoma gene rig and its
            possible function
  JOURNAL   Proc Natl Acad Sci U S A 84 (19), 6659-6662 (1987)
   PUBMED   2821540
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BG477036.1, BP274730.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000592588.7/ ENSP00000467466.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AC027307.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 5, 2020 this sequence version replaced NM_001018.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S19P family of ribosomal proteins. It is located in the
            cytoplasm. This gene has been found to be activated in various
            tumors, such as insulinomas, esophageal cancers, and colon cancers.
            As is typical for genes encoding ribosomal proteins, there are
            multiple processed pseudogenes of this gene dispersed through the
            genome. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Apr 2015].
            Transcript Variant: This variant (2) uses an alternate 5'-terminal
            exon, which results in a different 5' UTR and use of an alternate
            start codon compared to variant 1. It encodes isoform 2, which is
            shorter than and has a distinct N-terminus compared to isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..501
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..501
                     /gene="RPS15"
                     /gene_synonym="RIG; S15; uS19"
                     /note="ribosomal protein S15"
                     /db_xref="GeneID:6209"
                     /db_xref="HGNC:HGNC:10388"
                     /db_xref="MIM:180535"
     misc_feature    16..18
                     /gene="RPS15"
                     /gene_synonym="RIG; S15; uS19"
                     /note="upstream in-frame stop codon"
     CDS             31..468
                     /gene="RPS15"
                     /gene_synonym="RIG; S15; uS19"
                     /note="isoform 2 is encoded by transcript variant 2; 40S
                     ribosomal protein S15; homolog of rat insulinoma;
                     insulinoma protein; small ribosomal subunit protein uS19"
                     /codon_start=1
                     /product="small ribosomal subunit protein uS19 isoform 2"
                     /protein_id="NP_001009.1"
                     /db_xref="CCDS:CCDS12067.1"
                     /db_xref="GeneID:6209"
                     /db_xref="HGNC:HGNC:10388"
                     /db_xref="MIM:180535"
                     /translation="MAEVEQKKKRTFRKFTYRGVDLDQLLDMSYEQLMQLYSARQRRRL
                     NRGLRRKQHSLLKRLRKAKKEAPPMEKPEVVKTHLRDMIILPEMVGSMVGVYNGKTFNQ
                     VEIKPEMIGHYLGEFSITYKPVKHGRPGIGATHSSRFIPLK"
     misc_feature    34..36
                     /gene="RPS15"
                     /gene_synonym="RIG; S15; uS19"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P62841.2); acetylation site"
     regulatory      479..484
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS15"
                     /gene_synonym="RIG; S15; uS19"
                     /note="hexamer: AATAAA"
     polyA_site      501
                     /gene="RPS15"
                     /gene_synonym="RIG; S15; uS19"
                     /note="major polyA site"
ORIGIN
        1 caaagcgatc tcttctgagg atccggcaag atggcagaag tagagcagaa gaagaagcgg
       61 accttccgca agttcaccta ccgcggcgtg gacctcgacc agctgctgga catgtcctac
      121 gagcagctga tgcagctgta cagtgcgcgc cagcggcggc ggctgaaccg gggcctgcgg
      181 cggaagcagc actccctgct gaagcgcctg cgcaaggcca agaaggaggc gccgcccatg
      241 gagaagccgg aagtggtgaa gacgcacctg cgggacatga tcatcctacc cgagatggtg
      301 ggcagcatgg tgggcgtcta caacggcaag accttcaacc aggtggagat caagcccgag
      361 atgatcggcc actacctggg cgagttctcc atcacctaca agcccgtaaa gcatggccgg
      421 cccggcatcg gggccaccca ctcctcccgc ttcatccctc tcaagtaatg gctcagctaa
      481 taaaggcgca catgactcca g
//
LOCUS       NM_001018005            1217 bp    mRNA    linear   PRI 16-MAR-2023
DEFINITION  Homo sapiens tropomyosin 1 (TPM1), transcript variant Tpm1.1, mRNA.
ACCESSION   NM_001018005
VERSION     NM_001018005.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1217)
  AUTHORS   Nefedova VV, Kopylova GV, Shchepkin DV, Kochurova AM, Kechko OI,
            Borzova VA, Ryabkova NS, Katrukha IA, Mitkevich VA, Bershitsky SY,
            Levitsky DI and Matyushenko AM.
  TITLE     Impact of Troponin in Cardiomyopathy Development Caused by Mutations
            in Tropomyosin
  JOURNAL   Int J Mol Sci 23 (24), 15723 (2022)
   PUBMED   36555368
  REMARK    GeneRIF: Impact of Troponin in Cardiomyopathy Development Caused by
            Mutations in Tropomyosin. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1217)
  AUTHORS   Li C, Hong S, Hu H, Liu T, Yan G and Sun D.
  TITLE     MYC-Induced Upregulation of Lncrna ELFN1-AS1 Contributes to Tumor
            Growth in Colorectal Cancer via Epigenetically Silencing TPM1
  JOURNAL   Mol Cancer Res 20 (11), 1697-1708 (2022)
   PUBMED   35857351
  REMARK    GeneRIF: MYC-Induced Upregulation of Lncrna ELFN1-AS1 Contributes to
            Tumor Growth in Colorectal Cancer via Epigenetically Silencing TPM1.
REFERENCE   3  (bases 1 to 1217)
  AUTHORS   Teekakirikul P, Zhu W, Xu X, Young CB, Tan T, Smith AM, Wang C,
            Peterson KA, Gabriel GC, Ho S, Sheng Y, Moreau de Bellaing A,
            Sonnenberg DA, Lin JH, Fotiou E, Tenin G, Wang MX, Wu YL, Feinstein
            T, Devine W, Gou H, Bais AS, Glennon BJ, Zahid M, Wong TC, Ahmad F,
            Rynkiewicz MJ, Lehman WJ, Keavney B, Alastalo TP, Freckmann ML,
            Orwig K, Murray S, Ware SM, Zhao H, Feingold B and Lo CW.
  TITLE     Genetic resiliency associated with dominant lethal TPM1 mutation
            causing atrial septal defect with high heritability
  JOURNAL   Cell Rep Med 3 (2), 100501 (2022)
   PUBMED   35243414
  REMARK    GeneRIF: Genetic resiliency associated with dominant lethal TPM1
            mutation causing atrial septal defect with high heritability.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1217)
  AUTHORS   Man Y, Yi C, Fan M, Yang T, Liu P, Liu S and Wang G.
  TITLE     Identification of a novel missense mutation in the TPM1 gene via
            exome sequencing in a Chinese family with dilated cardiomyopathy: A
            case report and literature review
  JOURNAL   Medicine (Baltimore) 101 (2), e28551 (2022)
   PUBMED   35029218
  REMARK    GeneRIF: Identification of a novel missense mutation in the TPM1
            gene via exome sequencing in a Chinese family with dilated
            cardiomyopathy: A case report and literature review. Review article
REFERENCE   5  (bases 1 to 1217)
  AUTHORS   Geeves MA, Hitchcock-DeGregori SE and Gunning PW.
  TITLE     A systematic nomenclature for mammalian tropomyosin isoforms
  JOURNAL   J Muscle Res Cell Motil 36 (2), 147-153 (2015)
   PUBMED   25369766
  REMARK    Review article
REFERENCE   6  (bases 1 to 1217)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301725
REFERENCE   7  (bases 1 to 1217)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301486
REFERENCE   8  (bases 1 to 1217)
  AUTHORS   Chevray PM and Nathans D.
  TITLE     Protein interaction cloning in yeast: identification of mammalian
            proteins that react with the leucine zipper of Jun
  JOURNAL   Proc Natl Acad Sci U S A 89 (13), 5789-5793 (1992)
   PUBMED   1631061
REFERENCE   9  (bases 1 to 1217)
  AUTHORS   Lees-Miller JP and Helfman DM.
  TITLE     The molecular basis for tropomyosin isoform diversity
  JOURNAL   Bioessays 13 (9), 429-437 (1991)
   PUBMED   1796905
  REMARK    Review article
REFERENCE   10  (bases 1 to 1217)
  AUTHORS   Mak,A., Smillie,L.B. and Barany,M.
  TITLE     Specific phosphorylation at serine-283 of alpha tropomyosin from
            frog skeletal and rabbit skeletal and cardiac muscle
  JOURNAL   Proc Natl Acad Sci U S A 75 (8), 3588-3592 (1978)
   PUBMED   278975
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.79996.1,
            SRR5189655.55392.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000403994.9/ ENSP00000385107.4
            RefSeq Select criteria      :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG107949.1, M19713.1,
            BC007433.2 and AC079328.11.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001018005.1.
            Summary: This gene is a member of the tropomyosin family of highly
            conserved, widely distributed actin-binding proteins involved in
            the contractile system of striated and smooth muscles and the
            cytoskeleton of non-muscle cells. Tropomyosin is composed of two
            alpha-helical chains arranged as a coiled-coil. It is polymerized
            end to end along the two grooves of actin filaments and provides
            stability to the filaments. The encoded protein is one type of
            alpha helical chain that forms the predominant tropomyosin of
            striated muscle, where it also functions in association with the
            troponin complex to regulate the calcium-dependent interaction of
            actin and myosin during muscle contraction. In smooth muscle and
            non-muscle cells, alternatively spliced transcript variants
            encoding a range of isoforms have been described. Mutations in this
            gene are associated with type 3 familial hypertrophic
            cardiomyopathy and dilated cardiomyopathy 1Y. [provided by RefSeq,
            Jun 2022].
            Transcript Variant: This variant (Tpm1.1, also known as variant 1)
            represents the shortest transcript. It encodes the longest isoform
            (Tpm1.1st), also known as the fast skeletal muscle isoform.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1217
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.2"
     gene            1..1217
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="tropomyosin 1"
                     /db_xref="GeneID:7168"
                     /db_xref="HGNC:HGNC:12010"
                     /db_xref="MIM:191010"
     CDS             84..938
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="isoform Tpm1.1st is encoded by transcript variant
                     Tpm1.1; cardiomyopathy, hypertrophic 3; tropomyosin alpha-1
                     chain; sarcomeric tropomyosin kappa; epididymis secretory
                     protein Li 265"
                     /codon_start=1
                     /product="tropomyosin alpha-1 chain isoform Tpm1.1st"
                     /protein_id="NP_001018005.1"
                     /db_xref="CCDS:CCDS45273.1"
                     /db_xref="GeneID:7168"
                     /db_xref="HGNC:HGNC:12010"
                     /db_xref="MIM:191010"
                     /translation="MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVS
                     LQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQE
                     RLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYE
                     EVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYE
                     EEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDM
                     TSI"
     misc_feature    84..197
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="propagated from UniProtKB/Swiss-Prot (P09493.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    84..86
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000269|PubMed:3548719; propagated from
                     UniProtKB/Swiss-Prot (P09493.2); acetylation site"
     misc_feature    174..176
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P09493.2); phosphorylation site"
     misc_feature    216..218
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04692; propagated from
                     UniProtKB/Swiss-Prot (P09493.2); phosphorylation site"
     misc_feature    234..236
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P09493.2); phosphorylation site"
     misc_feature    429..491
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="propagated from UniProtKB/Swiss-Prot (P09493.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    603..605
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P09493.2); phosphorylation site"
     misc_feature    639..641
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P58771; propagated from
                     UniProtKB/Swiss-Prot (P09493.2); phosphorylation site"
     misc_feature    699..701
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P58771; propagated from
                     UniProtKB/Swiss-Prot (P09493.2); phosphorylation site"
     misc_feature    720..722
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P09493.2); acetylation site"
     misc_feature    837..839
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P58771; propagated from
                     UniProtKB/Swiss-Prot (P09493.2); phosphorylation site"
     misc_feature    864..866
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P04692; propagated from
                     UniProtKB/Swiss-Prot (P09493.2); phosphorylation site"
     misc_feature    894..896
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P58771; propagated from
                     UniProtKB/Swiss-Prot (P09493.2); phosphorylation site"
     misc_feature    930..932
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="Phosphoserine, by DAPK1.
                     /evidence=ECO:0000269|PubMed:17895359; propagated from
                     UniProtKB/Swiss-Prot (P09493.2); phosphorylation site"
     regulatory      1113..1118
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="hexamer: AATAAA"
     polyA_site      1132
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="major polyA site"
     regulatory      1189..1194
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
                     /note="hexamer: AATAAA"
     polyA_site      1217
                     /gene="TPM1"
                     /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha;
                     LVNC9; TMSA"
ORIGIN
        1 gctcgcactc ccgctcctcc gcccgaccgc gcgctcgccc cgccgctcct gctgcagccc
       61 cagggcccct cgccgccgcc accatggacg ccatcaagaa gaagatgcag atgctgaagc
      121 tcgacaagga gaacgccttg gatcgagctg agcaggcgga ggccgacaag aaggcggcgg
      181 aagacaggag caagcagctg gaagatgagc tggtgtcact gcaaaagaaa ctcaagggca
      241 ccgaagatga actggacaaa tactctgagg ctctcaaaga tgcccaggag aagctggagc
      301 tggcagagaa aaaggccacc gatgctgaag ccgacgtagc ttctctgaac agacgcatcc
      361 agctggttga ggaagagttg gatcgtgccc aggagcgtct ggcaacagct ttgcagaagc
      421 tggaggaagc tgagaaggca gcagatgaga gtgagagagg catgaaagtc attgagagtc
      481 gagcccaaaa agatgaagaa aaaatggaaa ttcaggagat ccaactgaaa gaggccaagc
      541 acattgctga agatgccgac cgcaaatatg aagaggtggc ccgtaagctg gtcatcattg
      601 agagcgacct ggaacgtgca gaggagcggg ctgagctctc agaaggcaaa tgtgccgagc
      661 ttgaagaaga attgaaaact gtgacgaaca acttgaagtc actggaggct caggctgaga
      721 agtactcgca gaaggaagac agatatgagg aagagatcaa ggtcctttcc gacaagctga
      781 aggaggctga gactcgggct gagtttgcgg agaggtcagt aactaaattg gagaaaagca
      841 ttgatgactt agaagacgag ctgtacgctc agaaactgaa gtacaaagcc atcagcgagg
      901 agctggacca cgctctcaac gatatgactt ccatataagt ttctttgctt cacttctccc
      961 aagactccct cgtcgagctg gatgtcccac ctctctgagc tctgcatttg tctattctcc
     1021 agctgaccct ggttctctct cttagcatcc tgccttagag ccaggcacac actgtgcttt
     1081 ctattgtaca gaagctcttc gtttcagtgt caaataaaca ctgtgtaagc tatttctgtt
     1141 tgctattctt tttacttctt atttattgac attttagttt caacattgaa taaaactaca
     1201 aagctgcttc acacata
//
LOCUS       NM_001018024             881 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens C-X9-C motif containing 4 (CMC4), mRNA.
ACCESSION   NM_001018024
VERSION     NM_001018024.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 881)
  AUTHORS   Cavallaro G.
  TITLE     Genome-wide analysis of eukaryotic twin CX9C proteins
  JOURNAL   Mol Biosyst 6 (12), 2459-2470 (2010)
   PUBMED   20922212
REFERENCE   2  (bases 1 to 881)
  AUTHORS   Barthe P, Yang YS, Chiche L, Hoh F, Strub MP, Guignard L, Soulier J,
            Stern MH, van Tilbeurgh H, Lhoste JM and Roumestand C.
  TITLE     Solution structure of human p8MTCP1, a cysteine-rich protein encoded
            by the MTCP1 oncogene, reveals a new alpha-helical assembly motif
  JOURNAL   J Mol Biol 274 (5), 801-815 (1997)
   PUBMED   9405159
REFERENCE   3  (bases 1 to 881)
  AUTHORS   Madani A, Soulier J, Schmid M, Plichtova R, Lerme F, Gateau-Roesch
            O, Garnier JP, Pla M, Sigaux F and Stern MH.
  TITLE     The 8 kD product of the putative oncogene MTCP-1 is a mitochondrial
            protein
  JOURNAL   Oncogene 10 (11), 2259-2262 (1995)
   PUBMED   7784073
REFERENCE   4  (bases 1 to 881)
  AUTHORS   Soulier J, Madani A, Cacheux V, Rosenzwajg M, Sigaux F and Stern MH.
  TITLE     The MTCP-1/c6.1B gene encodes for a cytoplasmic 8 kD protein
            overexpressed in T cell leukemia bearing a t(X;14) translocation
  JOURNAL   Oncogene 9 (12), 3565-3570 (1994)
   PUBMED   7970717
REFERENCE   5  (bases 1 to 881)
  AUTHORS   Stern MH, Soulier J, Rosenzwajg M, Nakahara K, Canki-Klain N, Aurias
            A, Sigaux F and Kirsch IR.
  TITLE     MTCP-1: a novel gene on the human chromosome Xq28 translocated to
            the T cell receptor alpha/delta locus in mature T cell
            proliferations
  JOURNAL   Oncogene 8 (9), 2475-2483 (1993)
   PUBMED   8361760
REFERENCE   6  (bases 1 to 881)
  AUTHORS   Kenwrick S, Levinson B, Taylor S, Shapiro A and Gitschier J.
  TITLE     Isolation and sequence of two genes associated with a CpG island 5'
            of the factor VIII gene
  JOURNAL   Hum Mol Genet 1 (3), 179-186 (1992)
   PUBMED   1303175
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC002600.1, SRR5189655.194343.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03267752
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000369484.8/ ENSP00000358496.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC002600.1.
            On Nov 23, 2018 this sequence version replaced NM_001018024.2.
            Summary: This gene was identified by involvement in some t(X;14)
            translocations associated with mature T-cell proliferations. This
            region has a complex gene structure, with a common promoter and 5'
            exon spliced to two different sets of 3' exons that encode two
            different proteins. This gene represents the downstream 8 kDa
            protein that localizes to mitochondria.[provided by RefSeq, Mar
            2009].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..881
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..881
                     /gene="CMC4"
                     /gene_synonym="C6.1B; MTCP1; MTCP1B; MTCP1NB; p8; p8MTCP1"
                     /note="C-X9-C motif containing 4"
                     /db_xref="GeneID:100272147"
                     /db_xref="HGNC:HGNC:35428"
                     /db_xref="MIM:301088"
     misc_feature    391..393
                     /gene="CMC4"
                     /gene_synonym="C6.1B; MTCP1; MTCP1B; MTCP1NB; p8; p8MTCP1"
                     /note="upstream in-frame stop codon"
     CDS             454..660
                     /gene="CMC4"
                     /gene_synonym="C6.1B; MTCP1; MTCP1B; MTCP1NB; p8; p8MTCP1"
                     /note="protein p8 MTCP-1; C-x(9)-C motif containing 4
                     homolog; mature T-cell proliferation 1 neighbor protein;
                     mature T-cell proliferation-1 type A; MTCP-1 type A"
                     /codon_start=1
                     /product="cx9C motif-containing protein 4"
                     /protein_id="NP_001018024.1"
                     /db_xref="CCDS:CCDS14764.1"
                     /db_xref="GeneID:100272147"
                     /db_xref="HGNC:HGNC:35428"
                     /db_xref="MIM:301088"
                     /translation="MPQKDPCQKQACEIQKCLQANSYMESKCQAVIQELRKCCAQYPKG
                     RSVVCSGFEKEEEENLTRKSASK"
     misc_feature    472..504
                     /gene="CMC4"
                     /gene_synonym="C6.1B; MTCP1; MTCP1B; MTCP1NB; p8; p8MTCP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P56277.1);
                     Region: Cx9C motif 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01150"
     misc_feature    535..567
                     /gene="CMC4"
                     /gene_synonym="C6.1B; MTCP1; MTCP1B; MTCP1NB; p8; p8MTCP1"
                     /note="propagated from UniProtKB/Swiss-Prot (P56277.1);
                     Region: Cx9C motif 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01150"
     regulatory      859..864
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CMC4"
                     /gene_synonym="C6.1B; MTCP1; MTCP1B; MTCP1NB; p8; p8MTCP1"
                     /note="hexamer: AATAAA"
     polyA_site      881
                     /gene="CMC4"
                     /gene_synonym="C6.1B; MTCP1; MTCP1B; MTCP1NB; p8; p8MTCP1"
                     /note="major polyA site"
ORIGIN
        1 gtactctgtg agcggcgccc gggcgcctgg gcaggcgcct cccgagtacc ggcgcccatt
       61 ttgcccgccc gctaaggaga cccgtgcgcg gcctacacgc ttgggggaca gccctttaag
      121 acgacatctc cgcgaacgcc ggcctcttga gccaggggga cgctcttttg aaagtcagtc
      181 ccaaaacagt taaggtttta ttttattttg ttttatttcc aagtcacagc ccccgaatct
      241 cgtacaactc tccctggacc acttccggtt gccggcccgc gcctcataac ttcggttcga
      301 gtgacctcgg cccgggatgc ccctcggctc accccgggct cacgtcgcga tcctggcttg
      361 agtggcccag ggtgggagac ctggaagttt tagcctagct gttctcaagg cggattaatt
      421 agcccaagaa acattatatt catttttctg gatatgccgc agaaggatcc gtgccagaag
      481 caagcctgtg agatacagaa atgtttacaa gccaacagct acatggaatc aaagtgtcag
      541 gctgtcatcc aagaactgcg taagtgttgt gctcagtatc ccaagggaag atctgtcgtc
      601 tgttcaggat ttgaaaaaga agaggaagaa aacctaacac ggaagtctgc atcaaagtaa
      661 agttcttctg aagtgctgct ccatgtttcc accaaatgaa ttttttttat cctcctgact
      721 cttcaggcca ggtagcagca aatagcaaat gaaaaagtca gctacaaaag ttaatgaata
      781 tgccatctat gcagaacagg cagaaatata aacacattaa aagacaaata tgtagaatgt
      841 aatatactga gctgctaaaa taaacctgtt taagagaaaa a
//
LOCUS       NM_001018025            2184 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens mature T cell proliferation 1 (MTCP1), mRNA.
ACCESSION   NM_001018025
VERSION     NM_001018025.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2184)
  AUTHORS   Walker JS, Hing ZA, Sher S, Cronin J, Williams K, Harrington B,
            Skinner JN, Cempre CB, Gregory CT, Pan A, Yano M, Beaver LP, Walker
            BR, Labanowska JM, Heerema NA, Mrozek K, Woyach JA, Ruppert AS,
            Lehman A, Ozer HG, Coppola V, Yan P, Byrd JC, Blachly JS and
            Lapalombella R.
  TITLE     Rare t(X;14)(q28;q32) translocation reveals link between MTCP1 and
            chronic lymphocytic leukemia
  JOURNAL   Nat Commun 12 (1), 6338 (2021)
   PUBMED   34732719
  REMARK    GeneRIF: Rare t(X;14)(q28;q32) translocation reveals link between
            MTCP1 and chronic lymphocytic leukemia. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2184)
  AUTHORS   Wang L, McDonnell SK, Hebbring SJ, Cunningham JM, St Sauver J,
            Cerhan JR, Isaya G, Schaid DJ and Thibodeau SN.
  TITLE     Polymorphisms in mitochondrial genes and prostate cancer risk
  JOURNAL   Cancer Epidemiol Biomarkers Prev 17 (12), 3558-3566 (2008)
   PUBMED   19064571
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 2184)
  AUTHORS   Joiner,M., Le Toriellec,E., Despouy,G. and Stern,M.H.
  TITLE     The MTCP1 oncogene modifies T-cell homeostasis before leukemogenesis
            in transgenic mice
  JOURNAL   Leukemia 21 (2), 362-366 (2007)
   PUBMED   17136114
  REMARK    GeneRIF: Transgenic mice overexpressing MTCP1 develop leukemias with
            a CD8 central memory phenotype in most cases.
REFERENCE   4  (bases 1 to 2184)
  AUTHORS   Laine J, Kunstle G, Obata T and Noguchi M.
  TITLE     Differential regulation of Akt kinase isoforms by the members of the
            TCL1 oncogene family
  JOURNAL   J Biol Chem 277 (5), 3743-3751 (2002)
   PUBMED   11707444
REFERENCE   5  (bases 1 to 2184)
  AUTHORS   Laine J, Kunstle G, Obata T, Sha M and Noguchi M.
  TITLE     The protooncogene TCL1 is an Akt kinase coactivator
  JOURNAL   Mol Cell 6 (2), 395-407 (2000)
   PUBMED   10983986
REFERENCE   6  (bases 1 to 2184)
  AUTHORS   Madani A, Choukroun V, Soulier J, Cacheux V, Claisse JF, Valensi F,
            Daliphard S, Cazin B, Levy V, Leblond V, Daniel MT, Sigaux F and
            Stern MH.
  TITLE     Expression of p13MTCP1 is restricted to mature T-cell proliferations
            with t(X;14) translocations
  JOURNAL   Blood 87 (5), 1923-1927 (1996)
   PUBMED   8634440
REFERENCE   7  (bases 1 to 2184)
  AUTHORS   Thick J, Mak YF, Metcalfe J, Beatty D and Taylor AM.
  TITLE     A gene on chromosome Xq28 associated with T-cell prolymphocytic
            leukemia in two patients with ataxia telangiectasia
  JOURNAL   Leukemia 8 (4), 564-573 (1994)
   PUBMED   8152252
REFERENCE   8  (bases 1 to 2184)
  AUTHORS   Fisch P, Forster A, Sherrington PD, Dyer MJ and Rabbitts TH.
  TITLE     The chromosomal translocation t(X;14)(q28;q11) in T-cell
            pro-lymphocytic leukaemia breaks within one gene and activates
            another
  JOURNAL   Oncogene 8 (12), 3271-3276 (1993)
   PUBMED   8247530
REFERENCE   9  (bases 1 to 2184)
  AUTHORS   Stern MH, Soulier J, Rosenzwajg M, Nakahara K, Canki-Klain N, Aurias
            A, Sigaux F and Kirsch IR.
  TITLE     MTCP-1: a novel gene on the human chromosome Xq28 translocated to
            the T cell receptor alpha/delta locus in mature T cell
            proliferations
  JOURNAL   Oncogene 8 (9), 2475-2483 (1993)
   PUBMED   8361760
REFERENCE   10  (bases 1 to 2184)
  AUTHORS   Kenwrick S, Levinson B, Taylor S, Shapiro A and Gitschier J.
  TITLE     Isolation and sequence of two genes associated with a CpG island 5'
            of the factor VIII gene
  JOURNAL   Hum Mol Genet 1 (3), 179-186 (1992)
   PUBMED   1303175
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX341834.2, ERR3218371.393469.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000369476.8/ ENSP00000358488.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX470111.4, AW976554.1 and
            AA744518.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001018025.3.
            Summary: This gene was identified by involvement in some t(X;14)
            translocations associated with mature T-cell proliferations. This
            region has a complex gene structure, with a common promoter and 5'
            exon spliced to two different sets of 3' exons that encode two
            different proteins. This gene represents the upstream 13 kDa
            protein that is a member of the TCL1 family. This protein may be
            involved in leukemogenesis. [provided by RefSeq, Mar 2009].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2184
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..2184
                     /gene="MTCP1"
                     /gene_synonym="P13MTCP1; p8MTCP1; TCL1C"
                     /note="mature T cell proliferation 1"
                     /db_xref="GeneID:4515"
                     /db_xref="HGNC:HGNC:7423"
                     /db_xref="MIM:300116"
     misc_feature    467..469
                     /gene="MTCP1"
                     /gene_synonym="P13MTCP1; p8MTCP1; TCL1C"
                     /note="upstream in-frame stop codon"
     CDS             491..814
                     /gene="MTCP1"
                     /gene_synonym="P13MTCP1; p8MTCP1; TCL1C"
                     /note="mature T-cell proliferation-1 type B1; MTCP-1 type
                     B1; TCL1 family AKT coactivator C"
                     /codon_start=1
                     /product="protein p13 MTCP-1"
                     /protein_id="NP_001018025.1"
                     /db_xref="CCDS:CCDS44027.1"
                     /db_xref="GeneID:4515"
                     /db_xref="HGNC:HGNC:7423"
                     /db_xref="MIM:300116"
                     /translation="MAGEDVGAPPDHLWVHQEGIYRDEYQRTWVAVVEEETSFLRARVQ
                     QIQVPLGDAARPSHLLTSQLPLMWQLYPEERYMDNNSRLWQIQHHLMVRGVQELLLKLL
                     PDD"
     regulatory      1829..1834
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTCP1"
                     /gene_synonym="P13MTCP1; p8MTCP1; TCL1C"
                     /note="hexamer: AATAAA"
     polyA_site      1853
                     /gene="MTCP1"
                     /gene_synonym="P13MTCP1; p8MTCP1; TCL1C"
                     /note="major polyA site"
     regulatory      2021..2026
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTCP1"
                     /gene_synonym="P13MTCP1; p8MTCP1; TCL1C"
                     /note="hexamer: AATACA"
     polyA_site      2040
                     /gene="MTCP1"
                     /gene_synonym="P13MTCP1; p8MTCP1; TCL1C"
                     /note="major polyA site"
     regulatory      2159..2164
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTCP1"
                     /gene_synonym="P13MTCP1; p8MTCP1; TCL1C"
                     /note="hexamer: AATAAA"
     polyA_site      2184
                     /gene="MTCP1"
                     /gene_synonym="P13MTCP1; p8MTCP1; TCL1C"
ORIGIN
        1 gtactctgtg agcggcgccc gggcgcctgg gcaggcgcct cccgagtacc ggcgcccatt
       61 ttgcccgccc gctaaggaga cccgtgcgcg gcctacacgc ttgggggaca gccctttaag
      121 acgacatctc cgcgaacgcc ggcctcttga gccaggggga cgctcttttg aaagtcagtc
      181 ccaaaacagt taaggtttta ttttattttg ttttatttcc aagtcacagc ccccgaatct
      241 cgtacaactc tccctggacc acttccggtt gccggcccgc gcctcataac ttcggttcga
      301 gtgacctcgg cccgggatgc ccctcggctc accccgggct cacgtcgcga tcctggcttg
      361 agtggcccag ggtgggagac ctggaagttt tagcctagct gttctcaagg cggattaatt
      421 agcccaagaa acattatatt catgcttagg tggagaaaag cagggctaga attggaaccc
      481 aaagcccaga atggcaggag aggatgtggg ggctccaccc gatcacctct gggttcacca
      541 agagggtatc taccgcgacg aataccagcg cacgtgggtg gccgtcgtgg aagaggagac
      601 gagtttccta agggcacgag tccagcaaat tcaggttccc ttaggtgacg cagctaggcc
      661 aagtcacctt cttacctccc agctacctct catgtggcaa ctctacccgg aggagcgcta
      721 catggataac aactctcgct tgtggcagat acagcatcat ttaatggtca ggggagtaca
      781 ggagctgttg cttaagcttt tgcctgatga ctaacctggt gctgggattc tacgaagata
      841 tgctcctttg ttctgttcag tatttggcaa tcacttcatc cactactgca gtgcacccac
      901 ccttgggcct ggggggaggg agtgggttga aaaactgctc aagaaacaga agtttagcaa
      961 gggtcatgaa gaatactgca agtgaaactg cagagagagg ttacgtaggc agaaagcaag
     1021 tcaacaaaag cacttagtca ggatccgtaa cttgaaattg actcctttgg aaattgccat
     1081 agaaccctta atggacatca tcggctggac ctgggatctg atgaatccca caaaagtcag
     1141 caccttctac agaacagatg ccctgatcac caaggacttg gtactgattt agagagaaga
     1201 gagcagctcc tagcagcatc aacatctatt tgtcgcttat ttgccctgca gcaattcacc
     1261 tgcctttcct tctcccatcc tgtaaatatc ctaggttttg ctccagtgtt tcccatccca
     1321 gtactgacct aatttggatc tgctgagtat ttagagggct ctgaaaagag atatgcattg
     1381 atgaaattag ctacaaaggc ttgtgggcct ttttttctat ctgaaatcgt gtcttcaaat
     1441 tactggaagt tgctgatcaa aattgtgggc tcttgaattc attctctgat tacagatatt
     1501 ttaaataagc tggtttctat aagaacttca agaaaaacca ttttagctgc ttaactggca
     1561 cctttctcag gaagtaataa caccaaatat tgctgattcc taggaaaaca tttactactt
     1621 gtaaagaatt tcctgagtta aagtagttat aacagtttat atacattaaa agtaaggttt
     1681 tactttaaaa aaaaaagtct tgggaataat agctaccatg tattggagtc ctttccaggc
     1741 actattgtat gtactttata tactttatca catttaatcc tcctgtcaat gctttgaggt
     1801 aggtatgatt cccattttat atatgagtaa taaaaaaagc tcaaggagtt taatcattta
     1861 tcaagggttt cttctgcgaa tgatagagcc aggctgcgcc gtcggctcct ctagcctaac
     1921 gttggtttac agtattcaaa aagagttgat tgaattcaag gttttttttc catgtaaagc
     1981 tatttatatc ttccaagcct aatgaaatgg atattataaa aatacagttg attcatccta
     2041 tgtttgggaa gagtattttt agtgtaatta ttttccagca attgtaaggg catatactgc
     2101 ttgtctcaga agaaaattcc acgtagaggg gctttaaagt ctttatggaa aaaagaaaaa
     2161 taaaaatcat ttttcttgtt ttag
//
LOCUS       NM_001018050            4468 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens RNA polymerase III subunit H (POLR3H), transcript
            variant 3, mRNA.
ACCESSION   NM_001018050
VERSION     NM_001018050.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4468)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 4468)
  AUTHORS   Franca MM, Han X, Funari MFA, Lerario AM, Nishi MY, Fontenele EGP,
            Domenice S, Jorge AAL, Garcia-Galiano D, Elias CF and Mendonca BB.
  TITLE     Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary
            Ovarian Insufficiency
  JOURNAL   J Clin Endocrinol Metab 104 (7), 2827-2841 (2019)
   PUBMED   30830215
  REMARK    GeneRIF: A pathogenic homozygous missense mutation (c.149A>G;
            p.Asp50Gly) in the POLR3H gene in two unrelated families with
            primary ovarian insufficiency was identified.
REFERENCE   3  (bases 1 to 4468)
  AUTHORS   Owen TJ, O'Neil JD, Dawson CW, Hu C, Chen X, Yao Y, Wood VH,
            Mitchell LE, White RJ, Young LS and Arrand JR.
  TITLE     Epstein-Barr virus-encoded EBNA1 enhances RNA polymerase
            III-dependent EBER expression through induction of EBER-associated
            cellular transcription factors
  JOURNAL   Mol Cancer 9, 241 (2010)
   PUBMED   20843307
  REMARK    GeneRIF: Findings reveal that RNA polymerase III-dependent EBER
            expression through induction of cellular transcription factors and
            add to the repertoire of EBNA1's transcription-regulatory
            properties. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4468)
  AUTHORS   Greco-Stewart VS, Schissel E and Pelchat M.
  TITLE     The hepatitis delta virus RNA genome interacts with the human RNA
            polymerases I and III
  JOURNAL   Virology 386 (1), 12-15 (2009)
   PUBMED   19246067
  REMARK    GeneRIF: The authors demonstrate the interaction of both RNA
            polymerase I and III with hepatitis delta virus RNA, both in vitro
            and in human cells.
REFERENCE   5  (bases 1 to 4468)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   6  (bases 1 to 4468)
  AUTHORS   Hu P, Wu S, Sun Y, Yuan CC, Kobayashi R, Myers MP and Hernandez N.
  TITLE     Characterization of human RNA polymerase III identifies orthologues
            for Saccharomyces cerevisiae RNA polymerase III subunits
  JOURNAL   Mol Cell Biol 22 (22), 8044-8055 (2002)
   PUBMED   12391170
REFERENCE   7  (bases 1 to 4468)
  AUTHORS   Jang KL, Collins MK and Latchman DS.
  TITLE     The human immunodeficiency virus tat protein increases the
            transcription of human Alu repeated sequences by increasing the
            activity of the cellular transcription factor TFIIIC
  JOURNAL   J Acquir Immune Defic Syndr (1988) 5 (11), 1142-1147 (1992)
   PUBMED   1403646
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.243919.1,
            SRR1803616.103110.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000355209.9/ ENSP00000347345.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA449644.1, DA238361.1, AB051452.1, AK000365.1, AL023553.5 and
            BM701572.1.
            On Nov 22, 2018 this sequence version replaced NM_001018050.3.
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 1. Variants 1, 3, 5, and 6 encode the same
            isoform (a).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4468
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..4468
                     /gene="POLR3H"
                     /gene_synonym="C25; RPC22.9; RPC8"
                     /note="RNA polymerase III subunit H"
                     /db_xref="GeneID:171568"
                     /db_xref="HGNC:HGNC:30349"
                     /db_xref="MIM:619801"
     misc_feature    328..330
                     /gene="POLR3H"
                     /gene_synonym="C25; RPC22.9; RPC8"
                     /note="upstream in-frame stop codon"
     CDS             370..984
                     /gene="POLR3H"
                     /gene_synonym="C25; RPC22.9; RPC8"
                     /EC_number="2.7.7.6"
                     /note="isoform a is encoded by transcript variant 3;
                     DNA-directed RNA polymerase III subunit RPC8; polymerase
                     (RNA) III subunit H; RNA nucleotidyltransferase
                     (DNA-directed); RNA polymerase III subunit C8; DNA-directed
                     RNA polymerase III subunit H; DNA-directed RNA polymerase
                     III subunit 22.9 kDa polypeptide; polymerase (RNA) III (DNA
                     directed) polypeptide H (22.9kD)"
                     /codon_start=1
                     /product="DNA-directed RNA polymerase III subunit RPC8
                     isoform a"
                     /protein_id="NP_001018060.1"
                     /db_xref="CCDS:CCDS14018.1"
                     /db_xref="GeneID:171568"
                     /db_xref="HGNC:HGNC:30349"
                     /db_xref="MIM:619801"
                     /translation="MFVLVEMVDTVRIPPWQFERKLNDSIAEELNKKLANKVVYNVGLC
                     ICLFDITKLEDAYVFPGDGASHTKVHFRCVVFHPFLDEILIGKIKGCSPEGVHVSLGFF
                     DDILIPPESLQQPAKFDEAEQVWVWEYETEEGAHDLYMDTGEEIRFRVVDESFVDTSPT
                     GPSSADATTSSEELPKKEAPYTLVGSISEPGLGLLSWWTSN"
     misc_feature    841..906
                     /gene="POLR3H"
                     /gene_synonym="C25; RPC22.9; RPC8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y535.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1406..1411
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLR3H"
                     /gene_synonym="C25; RPC22.9; RPC8"
                     /note="hexamer: AATAAA"
     regulatory      1410..1415
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLR3H"
                     /gene_synonym="C25; RPC22.9; RPC8"
                     /note="hexamer: AATACA"
     polyA_site      1425
                     /gene="POLR3H"
                     /gene_synonym="C25; RPC22.9; RPC8"
                     /note="major polyA site"
     polyA_site      1434
                     /gene="POLR3H"
                     /gene_synonym="C25; RPC22.9; RPC8"
     regulatory      4424..4429
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POLR3H"
                     /gene_synonym="C25; RPC22.9; RPC8"
                     /note="hexamer: AATAAA"
     polyA_site      4468
                     /gene="POLR3H"
                     /gene_synonym="C25; RPC22.9; RPC8"
ORIGIN
        1 agtcgcgcaa gcgcgagcgg ctgtgcgcgg tgcgtggtgc gtggtgcgtg atacgagcgg
       61 cggcacgtgg cgcgggtgcg gggcgtggag tggcgtggcg tggagtggcg tggcgtggcg
      121 gggtctcgcg gcgcgggcgc gcacccggag ctgtggacgg agagtgcctc cctctggcct
      181 cagtttcctc atgttgtagt agcggagcat ggcccggacc gggcccccga gaccgccccg
      241 tgcaacctca ccgccagcct gggggcctca gcgactggga cgggaccaag gggctcgggg
      301 attctccctg cccccggccc tggtgcgtga ctgaccctcc tgttcccaga gcccccagcg
      361 caggccggga tgttcgtcct ggtggaaatg gtggacaccg tccggatccc cccttggcag
      421 tttgagagga agctcaacga ctccattgcc gaggagctga acaagaagtt ggccaacaag
      481 gtcgtgtaca acgtgggact ctgcatttgt ctgtttgata tcaccaaact ggaggatgcc
      541 tatgtattcc ctggggatgg cgcatcacac accaaagtcc attttcgctg cgtggtgttt
      601 catccattcc tagatgagat tctcattggg aagatcaaag gctgcagccc agaaggagtg
      661 cacgtctctc taggcttctt cgatgacatt ctcatccccc cagagtcact gcagcagcca
      721 gccaagttcg acgaagcgga gcaggtgtgg gtgtgggagt acgagacgga ggaaggagca
      781 cacgacctct acatggacac cggcgaggag atccgcttcc gggtggtgga cgagagcttt
      841 gttgacacgt cccccacagg gcccagctca gcagatgcca ccacttccag tgaggagctg
      901 ccaaagaagg aggctccgta cacgcttgtg ggatccatca gtgagccagg cctgggcctt
      961 ctctcctggt ggaccagcaa ctagccctgg ggctggacag tggaccctac cagcctgcgg
     1021 gaaggtggta tggccggctg tgaagacaac agcagctgag gccgatgcta aggagatagt
     1081 gtctcgagct ggacagtgag gcaaggccag gagtgcccac cagcttgccc cgctcctcca
     1141 ccatctaggc cctgctcctc cttcactgca gtgatggatc catctgtggc tgtggctgtt
     1201 gggcctccac tgaccttgac tgaaaagacc cttcctggac cctggacttg acaacaaacg
     1261 gcacagacac caatcactca cagaacagtc actggttttg gattcttgtt ttccttgcaa
     1321 gaacaaaagg ttctctagaa tccttcagcc accaatgaaa tgatcaggca ggagaaaaac
     1381 tttagatggg agtcttgtca tcaaaaataa atacagttgc atggagctgc ttaagatctg
     1441 aaccaaactc aaaataggaa gacgggggct aaaaagttat tttaagaacc cccccaccac
     1501 aaccacagtc actccgtggg ctaagcgggg agcaggaagc atgtctggtc acaccatctt
     1561 ggaataggaa gccatggctg gacggatcgg atccactgat ggcacacgtg gagctgaact
     1621 tgacgccagc ggcggggcgg ggaggcactg ccctcactgt tgcagttcct tcattctgtt
     1681 gagggcactg ccagcgcgga accactcaat ctgcgtctcg ttgaaggtgt ggttcaggag
     1741 gatggtctcc tgggtcccgt tggggtgctt gatgatgcac ttcaggggct gcaaggagaa
     1801 ggtgggtgtg ggtggaagtg gtgggtactg tgtgcccttg gccccgcagg ggggtcaggg
     1861 agacagggca ctgcctgggg acctaagagg tcagcaggca aaccaaatcc taggccagtc
     1921 tgtgcctgat ggcccaggtc agacccaggt ggcacctaca ggggattcct ggggcccaga
     1981 gggtcctgca gtgggtgggc tgtcccctga gtgccaggtc ctggtgagta aagggaggtt
     2041 ggggaggtgt gagggccccg ggttgactcc aacccccaac tctgagaagc cactttgctt
     2101 tctctgtggg gccacctgga gaactggggg cctttccagc tggaatgaag cctcctggga
     2161 gaagctaccc tggggccagt gcaggagggg aaacaaggtg gctgcccctc accccaccac
     2221 ctcaggggga cccgggcccc taaccttgcc aggggtgaag tccttcaggc cctgaatggt
     2281 cagcttgtcc acagggtgaa tcttgttgta gtcagccggg tcagcgaagg tcagaggcag
     2341 caggccctgt ttcttcaggt tggtctctgg aaagcaggcg gcattcggtc atcgggggcc
     2401 tgactagcct ggagagcttc attttctgaa cccatctggg gctctgggag atgcccctaa
     2461 tcctgctgcc tgggacaatg cccgggcagt gactatgggg ccctggtctg ctccctttca
     2521 ctaggggtgc ccctagcaag tgtgcgctgg tgctgaggtc tgcgaggcct tcctgctgca
     2581 cattcatgat cagaaagaac cccctggcac atgtcctaga tctcagcggc tcagatctac
     2641 aagcctggaa gcagggcctg cgggaagccg ggaagctgag cgtcggatgt gcactgtgtg
     2701 agcctaagaa ggggcaagag gctgacgggc ctgtgggctg cagtggacac agcctagaac
     2761 caggcccaac tcagccacgg gcagggagag tgaccttgat cactagggat gggatgagga
     2821 tggcctgggt acagactcca gctcaccgtg gatcctggca aagctcttgg tgatgatggc
     2881 ccggccccca aggtggcgag gctccagagc tgcatgctcc cggctcgagc cctcgccgta
     2941 gttctcgtct ccgatcacca cccacctgat gccatgtttc tgtcaggcaa gcgggggtaa
     3001 ggttataagg cagaggaggg caccgtcctc acctgtctgg ccctacctgc ctggcctcac
     3061 ccacctggcg cctgggcatc ctgaggctcc cggtaaaggg gctggagggg cccttcctcg
     3121 cctgctgcct aagggcaagt gaagcctgcg tgaatgagac ccaaacgagg ccccgagggg
     3181 acagaggcac gtggttgttt gcagtggcaa agaagacaga agccacccat tggtgcttgg
     3241 cagaggcagg tgtgtgtgga gggaggttgg gtgagacagg gacggcctcc gggccccaca
     3301 caagatgcat ctgtgaagct caaggcgccc ccttcctggg agcaccctct gccccaccca
     3361 gccaccaggg ggtgccagag tcctttcacc cggctgggcc aggacttggg ttcagccctg
     3421 gttctgtttg tttctcaaag cagaaaaagt ccaatcacct cagaccctct ctgcctgctc
     3481 actgtgaggc cccgtgtagc cccctctctg agcttttggc ctctgacttc ctgagtcggc
     3541 ccccttcctt gtctttgtct agggccagat atcctaagat atctctcact aactcctcct
     3601 ggtgcaggga cccggctgta ccaccggacc tgggcctcat gccttctcag ccacagggag
     3661 gggctgcagg cctctcctcc cttccacagc agtccccttt gggcttggtc ggcctccttc
     3721 ccagtttcca ctcccctaat gtcctccctg cacctgcctt gcaggcccct tcaggagtga
     3781 ccactggcat tgcccctatc aactctgacc caccttgtag tagcgggcag tgtcagggac
     3841 ggggccaaac tcctgagtga cggcattgcg cacggagttg gccttgccgt tttcaatgtt
     3901 gatggcacca atgagcaggt tgttggagat gttatccaag tgcccacgga acttgagcca
     3961 ggggccagca gctgagatgt ggtcagtggt acacttccct ttgaccttgg gtggtaagta
     4021 gagaggacag aggtcagggc atggccctgg aggggtggat gacaagccct ccagaggcag
     4081 gcagcaggcc ccggggccca ggaggggtga cagaggggtg agaggcaggc aagtcttcag
     4141 acacgtgttc tgtggtcctg gtgcttccac cctaaggcca catgggctca ggccaggcct
     4201 tcatcccctc aaaggcctct ggctgctcag tctcccttat ggggcagagg ccgcccaaag
     4261 ttgggacagg tcaatgttcg ctcacccttc aggcctcagc tgcaagatca gccacagacc
     4321 tcatgctgga cacaggagcc caggacatgc ctgggtcctg gctgatgact gattagtctc
     4381 ttctgtcaca ggggtgcctg gagacccctt aataagcagc ataaataaat atctgacaca
     4441 gattggaggc ctctggccac accaaaaa
//
LOCUS       NM_001018055            2769 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens BRCA1/BRCA2-containing complex subunit 3 (BRCC3),
            transcript variant 2, mRNA.
ACCESSION   NM_001018055
VERSION     NM_001018055.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2769)
  AUTHORS   Zhang CH, Qin K, Tian SL, Han Y, Xu SY and Shao XY.
  TITLE     Identification and Verification of the Ability of Cdk5 to
            Phosphorylate Deubiquitinating Enzyme BRCC3 In Vitro
  JOURNAL   Bull Exp Biol Med 172 (6), 701-708 (2022)
   PUBMED   35503584
  REMARK    GeneRIF: Identification and Verification of the Ability of Cdk5 to
            Phosphorylate Deubiquitinating Enzyme BRCC3 In Vitro.
REFERENCE   2  (bases 1 to 2769)
  AUTHORS   Zhang W, Tao SS, Wang T, Zhang J, Liu X, Li YT, Chen H, Zhan YQ, Yu
            M, Ge CH, Li CY, Ren GM, Yang XM and Yin RH.
  TITLE     ABRO1 stabilizes the deubiquitinase BRCC3 through inhibiting its
            degradation mediated by the E3 ubiquitin ligase WWP2
  JOURNAL   FEBS Lett 595 (2), 169-182 (2021)
   PUBMED   33107021
  REMARK    GeneRIF: ABRO1 stabilizes the deubiquitinase BRCC3 through
            inhibiting its degradation mediated by the E3 ubiquitin ligase WWP2.
REFERENCE   3  (bases 1 to 2769)
  AUTHORS   Rabl J.
  TITLE     BRCA1-A and BRISC: Multifunctional Molecular Machines for Ubiquitin
            Signaling
  JOURNAL   Biomolecules 10 (11), 1503 (2020)
   PUBMED   33142801
  REMARK    GeneRIF: BRCA1-A and BRISC: Multifunctional Molecular Machines for
            Ubiquitin Signaling. Review article Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2769)
  AUTHORS   Miskinyte S, Butler MG, Herve D, Sarret C, Nicolino M, Petralia JD,
            Bergametti F, Arnould M, Pham VN, Gore AV, Spengos K, Gazal S,
            Woimant F, Steinberg GK, Weinstein BM and Tournier-Lasserve E.
  TITLE     Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis
            and is associated with syndromic moyamoya
  JOURNAL   Am J Hum Genet 88 (6), 718-728 (2011)
   PUBMED   21596366
  REMARK    GeneRIF: these data strongly suggest that BRCC3, a deubiquitinating
            enzyme that is part of the cellular BRCA1 and BRISC complexes, is an
            important player in angiogenesis and that BRCC3 loss-of-function
            mutations are associated with moyamoya angiopathy.
REFERENCE   5  (bases 1 to 2769)
  AUTHORS   Feng L, Wang J and Chen J.
  TITLE     The Lys63-specific deubiquitinating enzyme BRCC36 is regulated by
            two scaffold proteins localizing in different subcellular
            compartments
  JOURNAL   J Biol Chem 285 (40), 30982-30988 (2010)
   PUBMED   20656690
  REMARK    GeneRIF: scaffold proteins not only participate in the regulation of
            BRCC36 activity but also determine its subcellular localization and
            cellular functions.
REFERENCE   6  (bases 1 to 2769)
  AUTHORS   Shao G, Lilli DR, Patterson-Fortin J, Coleman KA, Morrissey DE and
            Greenberg RA.
  TITLE     The Rap80-BRCC36 de-ubiquitinating enzyme complex antagonizes
            RNF8-Ubc13-dependent ubiquitination events at DNA double strand
            breaks
  JOURNAL   Proc Natl Acad Sci U S A 106 (9), 3166-3171 (2009)
   PUBMED   19202061
REFERENCE   7  (bases 1 to 2769)
  AUTHORS   Boudreau HE, Broustas CG, Gokhale PC, Kumar D, Mewani RR, Rone JD,
            Haddad BR and Kasid U.
  TITLE     Expression of BRCC3, a novel cell cycle regulated molecule, is
            associated with increased phospho-ERK and cell proliferation
  JOURNAL   Int J Mol Med 19 (1), 29-39 (2007)
   PUBMED   17143545
  REMARK    GeneRIF: These findings demonstrate that BRCC3 is a novel effector
            of Raf-1, and implicate a role of BRCC3 in modulation of p-ERK, cell
            survival and proliferation.
REFERENCE   8  (bases 1 to 2769)
  AUTHORS   Mallery DL, Vandenberg CJ and Hiom K.
  TITLE     Activation of the E3 ligase function of the BRCA1/BARD1 complex by
            polyubiquitin chains
  JOURNAL   EMBO J 21 (24), 6755-6762 (2002)
   PUBMED   12485996
REFERENCE   9  (bases 1 to 2769)
  AUTHORS   Fisch P, Forster A, Sherrington PD, Dyer MJ and Rabbitts TH.
  TITLE     The chromosomal translocation t(X;14)(q28;q11) in T-cell
            pro-lymphocytic leukaemia breaks within one gene and activates
            another
  JOURNAL   Oncogene 8 (12), 3271-3276 (1993)
   PUBMED   8247530
REFERENCE   10  (bases 1 to 2769)
  AUTHORS   Kenwrick S, Levinson B, Taylor S, Shapiro A and Gitschier J.
  TITLE     Isolation and sequence of two genes associated with a CpG island 5'
            of the factor VIII gene
  JOURNAL   Hum Mol Genet 1 (3), 179-186 (1992)
   PUBMED   1303175
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X64643.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000330045.12/ ENSP00000328641.7
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP304352.1, X64643.1,
            BX293995.4 and BC002999.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 20, 2020 this sequence version replaced NM_001018055.2.
            Summary: This gene encodes a subunit of the BRCA1-BRCA2-containing
            complex (BRCC), which is an E3 ubiquitin ligase. This complex plays
            a role in the DNA damage response, where it is responsible for the
            stable accumulation of BRCA1 at DNA break sites. The component
            encoded by this gene can specifically cleave Lys 63-linked
            polyubiquitin chains, and it regulates the abundance of these
            polyubiquitin chains in chromatin. The loss of this gene results in
            abnormal angiogenesis and is associated with syndromic moyamoya, a
            cerebrovascular angiopathy. Alternative splicing results in
            multiple transcript variants. A related pseudogene has been
            identified on chromosome 5. [provided by RefSeq, Jun 2011].
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the central coding region, compared to variant 1, resulting
            in an isoform (2) that is shorter than isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2769
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..2769
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /note="BRCA1/BRCA2-containing complex subunit 3"
                     /db_xref="GeneID:79184"
                     /db_xref="HGNC:HGNC:24185"
                     /db_xref="MIM:300617"
     CDS             21..896
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /EC_number="3.1.2.15"
                     /note="isoform 2 is encoded by transcript variant 2;
                     lys-63-specific deubiquitinase BRCC36;
                     BRCA1/BRCA2-containing complex subunit 36; BRISC complex
                     subunit BRCC36; BRCA1-A complex subunit BRCC36"
                     /codon_start=1
                     /product="lys-63-specific deubiquitinase BRCC36 isoform 2"
                     /protein_id="NP_001018065.1"
                     /db_xref="CCDS:CCDS56612.1"
                     /db_xref="GeneID:79184"
                     /db_xref="HGNC:HGNC:24185"
                     /db_xref="MIM:300617"
                     /translation="MAVQVVQAVQAVHLESDAFLVCLNHALSTEKEEVMGLCIGELNDD
                     TRSDSKFAYTGTEMRTVAEKVDAVRIVHIHSVIILRRSDKRKDRVEISPEQLSAASTEA
                     ERLAELTGRPMRVVGWYHSHPHITVWPSHVDVRTQAMYQMMDQGFVGLIFSCFIEDKNT
                     KTGRVLYTCFQSIQAQKSSEYERIEIPIHIVPHVTIGKVCLESAVELPKILCQEEQDAY
                     RRIHSLTHLDSVTKIHNGSVFTKNLCSQMSAVSGPLLQWLEDRLEQNQQHLQELQQEKE
                     ELMQELSSLE"
     regulatory      2739..2744
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /note="hexamer: AATAAA"
     polyA_site      2769
                     /gene="BRCC3"
                     /gene_synonym="BRCC36; C6.1A; CXorf53"
                     /note="major polyA site"
ORIGIN
        1 gtgagaaggg tcgggccaag atggcggtgc aggtggtgca ggcggtgcag gcggttcatc
       61 tcgagtctga cgctttcctc gtttgtctca accacgctct gagcacagag aaggaggaag
      121 taatggggct gtgcataggg gagttgaacg atgatacaag gagtgactcc aaatttgcat
      181 atactggaac tgaaatgcgc acagttgctg aaaaggttga tgccgtcaga attgttcaca
      241 ttcattctgt catcatctta cgacgttctg ataagaggaa ggaccgagta gaaatttctc
      301 cagagcagct gtctgcagct tcaacagagg cagagaggtt ggctgaactg acaggccgcc
      361 ccatgagagt tgtgggctgg tatcattccc atcctcatat aactgtttgg ccttcacatg
      421 ttgatgttcg cacacaagcc atgtaccaga tgatggatca aggctttgta ggacttattt
      481 tttcctgttt catagaagat aagaacacaa agactggccg ggtactctac acttgcttcc
      541 aatccataca ggcccaaaag agttcagagt atgagagaat cgaaatccca atccatattg
      601 tacctcatgt cactatcggg aaagtgtgcc ttgaatcagc agtagagctg cccaagatcc
      661 tgtgccagga ggagcaggat gcgtatagga ggatccacag ccttacacat ctggactcag
      721 taaccaagat ccataatggc tcagtgttta ccaagaatct gtgcagtcag atgtcggcag
      781 tcagcgggcc tctcctacag tggttggagg acagactgga gcaaaaccaa cagcatttgc
      841 aggaattaca acaagaaaag gaagagctta tgcaagaact ttcttctcta gaataaatca
      901 ggagacaaaa tggggaaaga tgaaaatatc cagtgtaaag ttacttaagc taaatcaatt
      961 tcaaagaaga aaaacttgga ggactcattt tacctgactt caagacttac tataaagcta
     1021 tagtaatcaa gatagatggt attggcagag gaacagacac atacgtcaat ggaacagatg
     1081 agagaaccca gaaataaacc catataaata tgctcagctg attttgaaaa agtgaaaaag
     1141 caattcaatg gaggaagaat agcctttctg acaaattatg ctagagcaat tagacaccca
     1201 tggcgaggag aaaaaagaac ctctacttaa acctcacatc ttatataaaa tttaactcaa
     1261 aatgtataac ggacttaaat gtgatacata aaactagata actttgaaaa aagccacagg
     1321 agaaaaatct tcaggatctt gggctaggtg acaagttctt ggactttgcc ccgaaagcac
     1381 atccataaaa gacaaaatct gatatattgg acttcttcaa aatttaaaaa cttgtgattt
     1441 aagaagagga aaagataagc tacagattga gatgaatttg caaaccatat atctgatcaa
     1501 tttggaatat ataaagtgta ctaaaaactc aactgaagtc aggcatggta gctcatgctt
     1561 gtaatctcac cactttggga ggccaagatg ggaggagtgc ttgaggttag gcgttccaga
     1621 ccagcctggg caacatagtg agactcttgt ctctacaaaa agttttttta aaaaattaac
     1681 tgggcaccat gacacacacc agtagtccca gctactaggg aggcaggagg atcacttgag
     1741 cccaggagtt tgaggctgcg gtgagctgtg atcacaccac cacactccaa cctgtgtaac
     1801 agagtgaggc ctcatctcaa aaaaaaaaaa aggccacaaa actcaacaat aaaaacaaac
     1861 agtccaatta gaaaatgggc aaaagacatg aatagatgtt tcactgaaga ggatctatag
     1921 atggcaagta agcatatgaa aagctgttaa actccataag tcatcaggga atgcaaattg
     1981 aaaccacagc gaggctatga cttacttatc tcaatggcta aagaaaaaat agtgaaaata
     2041 ccaaatactg atgaggatac aaactggata ttttatacat tgctgacagg aatgtaaaat
     2101 ggtacagcca ctctgggaaa gagtttatga atttcttatc aagttaaaca taatttttta
     2161 atcaagttaa acataagacc cagcagttgt gctcctggac attcattcca gagaaatgaa
     2221 aacctatatt gtacttgtac tcaaatattc ataggagctt tatttgtaat agccccaaac
     2281 tggaaacaac ccagatgtcc tacaacaggt acatggttaa acaaaccatc cataacttgg
     2341 aatactgctc tggaatgaaa aggaactaac tgttgataca agaacttggt tgtacctcag
     2401 gggtattatg gtgaacaaaa aaaaaaccag tctcaaatgg tcacatactg tatgatcgca
     2461 tttatataac attcttgagg tgacaaaatt attgaaatga agaacagatt aatggttgcc
     2521 agggataggg actggagggg gtgtggggta tgtatgacta taaagggatg acgcaaggag
     2581 ttcctttgtg ctgatggaac agttctatat gattatgatg attacgatgt tgattataac
     2641 atttgattat gaggttaagc acatgagtct ttacctgtgc tgaagttgta tggacctaca
     2701 tacacacaaa tgaatgcatg taaaatctgg tgatactgaa taaagtctgt ggtctagata
     2761 gcagtataa
//
LOCUS       NM_001018057            2525 bp    mRNA    linear   PRI 26-JUN-2023
DEFINITION  Homo sapiens dickkopf WNT signaling pathway inhibitor 3 (DKK3),
            transcript variant 3, mRNA.
ACCESSION   NM_001018057
VERSION     NM_001018057.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2525)
  AUTHORS   Speer T, Schunk SJ, Sarakpi T, Schmit D, Wagner M, Arnold L,
            Zewinger S, Azukaitis K, Bayazit A, Obrycki L, Kaplan Bulut I,
            Duzova A, Doyon A, Ranchin B, Caliskan S, Harambat J, Yilmaz A,
            Alpay H, Lugani F, Balat A, Arbeiter K, Longo G, Melk A, Querfeld U,
            Wuhl E, Mehls O, Fliser D and Schaefer F.
  CONSRTM   4C Study Investigators, ESCAPE Trial Investigators
  TITLE     Urinary DKK3 as a biomarker for short-term kidney function decline
            in children with chronic kidney disease: an observational cohort
            study
  JOURNAL   Lancet Child Adolesc Health 7 (6), 405-414 (2023)
   PUBMED   37119829
  REMARK    GeneRIF: Urinary DKK3 as a biomarker for short-term kidney function
            decline in children with chronic kidney disease: an observational
            cohort study.
REFERENCE   2  (bases 1 to 2525)
  AUTHORS   Liu DH, Wen GM, Song CL and Xia P.
  TITLE     Effect of secretory DKK3 on circulating CD56bright natural killer
            cells in patients with liver cancer
  JOURNAL   Int J Biol Markers 38 (2), 99-104 (2023)
   PUBMED   37071578
  REMARK    GeneRIF: Effect of secretory DKK3 on circulating CD56[bright]
            natural killer cells in patients with liver cancer.
REFERENCE   3  (bases 1 to 2525)
  AUTHORS   Han MH, Baek JM, Min KW, Cheong JH, Ryu JI, Won YD, Kwon MJ and Koh
            SH.
  TITLE     DKK3 expression is associated with immunosuppression and poor
            prognosis in glioblastoma, in contrast to lower-grade gliomas
  JOURNAL   BMC Neurol 23 (1), 183 (2023)
   PUBMED   37149563
  REMARK    GeneRIF: DKK3 expression is associated with immunosuppression and
            poor prognosis in glioblastoma, in contrast to lower-grade gliomas.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2525)
  AUTHORS   Ji C, Chen L, Yuan M, Xie W, Sheng X and Yin Q.
  TITLE     KDM1A drives hepatoblastoma progression by activating the
            Wnt/beta-catenin pathway through inhibition of DKK3 transcription
  JOURNAL   Tissue Cell 81, 101989 (2023)
   PUBMED   36642006
  REMARK    GeneRIF: KDM1A drives hepatoblastoma progression by activating the
            Wnt/beta-catenin pathway through inhibition of DKK3 transcription.
REFERENCE   5  (bases 1 to 2525)
  AUTHORS   Shareef ZA, Hachim MY, Talaat IM, Bhamidimarri PM, Ershaid MNA, Ilce
            BY, Venkatachalam T, Eltayeb A, Hamoudi R and Hachim IY.
  TITLE     DKK3's protective role in prostate cancer is partly due to the
            modulation of immune-related pathways
  JOURNAL   Front Immunol 14, 978236 (2023)
   PUBMED   36845147
  REMARK    GeneRIF: DKK3's protective role in prostate cancer is partly due to
            the modulation of immune-related pathways. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 2525)
  AUTHORS   Mao B and Niehrs C.
  TITLE     Kremen2 modulates Dickkopf2 activity during Wnt/LRP6 signaling
  JOURNAL   Gene 302 (1-2), 179-183 (2003)
   PUBMED   12527209
REFERENCE   7  (bases 1 to 2525)
  AUTHORS   Kobayashi K, Ouchida M, Tsuji T, Hanafusa H, Miyazaki M, Namba M,
            Shimizu N and Shimizu K.
  TITLE     Reduced expression of the REIC/Dkk-3 gene by
            promoter-hypermethylation in human tumor cells
  JOURNAL   Gene 282 (1-2), 151-158 (2002)
   PUBMED   11814687
  REMARK    GeneRIF: REIC gene expression was decreased in 14 of 24 fresh
            non-small cell lung cancer specimens (58%) compared to that in
            corresponding non-cancerous tissue.
REFERENCE   8  (bases 1 to 2525)
  AUTHORS   Tsuji T, Miyazaki M, Sakaguchi M, Inoue Y and Namba M.
  TITLE     A REIC gene shows down-regulation in human immortalized cells and
            human tumor-derived cell lines
  JOURNAL   Biochem Biophys Res Commun 268 (1), 20-24 (2000)
   PUBMED   10652205
REFERENCE   9  (bases 1 to 2525)
  AUTHORS   Krupnik VE, Sharp JD, Jiang C, Robison K, Chickering TW, Amaravadi
            L, Brown DE, Guyot D, Mays G, Leiby K, Chang B, Duong T, Goodearl
            AD, Gearing DP, Sokol SY and McCarthy SA.
  TITLE     Functional and structural diversity of the human Dickkopf gene
            family
  JOURNAL   Gene 238 (2), 301-313 (1999)
   PUBMED   10570958
REFERENCE   10  (bases 1 to 2525)
  AUTHORS   Ligon AH, Pershouse MA, Jasser SA, Yung WK and Steck PA.
  TITLE     Identification of a novel gene product, RIG, that is down-regulated
            in human glioblastoma
  JOURNAL   Oncogene 14 (9), 1075-1081 (1997)
   PUBMED   9070656
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF177396.1, SRR1803614.135202.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2159607 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000683431.1/ ENSP00000506835.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL535720.3, BC007660.2,
            BQ690088.1 and H18461.1.
            On Aug 14, 2020 this sequence version replaced NM_001018057.1.
            Summary: This gene encodes a protein that is a member of the
            dickkopf family. The secreted protein contains two cysteine rich
            regions and is involved in embryonic development through its
            interactions with the Wnt signaling pathway. The expression of this
            gene is decreased in a variety of cancer cell lines and it may
            function as a tumor suppressor gene. Alternative splicing results
            in multiple transcript variants encoding the same protein.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2525
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.3"
     gene            1..2525
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
                     /note="dickkopf WNT signaling pathway inhibitor 3"
                     /db_xref="GeneID:27122"
                     /db_xref="HGNC:HGNC:2893"
                     /db_xref="MIM:605416"
     CDS             45..1097
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
                     /note="isoform 1 precursor is encoded by transcript variant
                     3; regulated in glioma; RIG-like 7-1; RIG-like 5-6;
                     dickkopf-related protein 3; dkk-3; hDkk-3; dickkopf-3;
                     dickkopf homolog 3; dickkopf 3 homolog; cardiomyocyte
                     regeneration-related lncRNA"
                     /codon_start=1
                     /product="dickkopf-related protein 3 isoform 1 precursor"
                     /protein_id="NP_001018067.1"
                     /db_xref="CCDS:CCDS7808.1"
                     /db_xref="GeneID:27122"
                     /db_xref="HGNC:HGNC:2893"
                     /db_xref="MIM:605416"
                     /translation="MQRLGATLLCLLLAAAVPTAPAPAPTATSAPVKPGPALSYPQEEA
                     TLNEMFREVEELMEDTQHKLRSAVEEMEAEEAAAKASSEVNLANLPPSYHNETNTDTKV
                     GNNTIHVHREIHKITNNQTGQMVFSETVITSVGDEEGRRSHECIIDEDCGPSMYCQFAS
                     FQYTCQPCRGQRMLCTRDSECCGDQLCVWGHCTKMATRGSNGTICDNQRDCQPGLCCAF
                     QRGLLFPVCTPLPVEGELCHDPASRLLDLITWELEPDGALDRCPCASGLLCQPHSHSLV
                     YVCKPTFVGSRDQDGEILLPREVPDEYEVGSFMEEVRQELEDLERSLTEEMALREPAAA
                     AAALLGGEEI"
     sig_peptide     45..107
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
     mat_peptide     108..1094
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
                     /product="dickkopf-related protein 3 isoform 1"
     misc_feature    120..122
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:23234360; propagated from
                     UniProtKB/Swiss-Prot (Q9UBP4.2); glycosylation site"
     misc_feature    126..128
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:23234360; propagated from
                     UniProtKB/Swiss-Prot (Q9UBP4.2); glycosylation site"
     misc_feature    129..182
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBP4.2);
                     Region: O-glycosylated at one site"
     misc_feature    330..332
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UBP4.2); glycosylation site"
     misc_feature    360..362
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UBP4.2); glycosylation site"
     misc_feature    405..407
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UBP4.2); glycosylation site"
     misc_feature    483..629
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBP4.2);
                     Region: DKK-type Cys-1"
     misc_feature    654..656
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UBP4.2); glycosylation site"
     misc_feature    666..896
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBP4.2);
                     Region: DKK-type Cys-2"
     regulatory      2406..2411
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
                     /note="hexamer: TATAAA"
     polyA_site      2455
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
                     /note="major polyA site"
     regulatory      2495..2500
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
                     /note="hexamer: AATAAA"
     polyA_site      2525
                     /gene="DKK3"
                     /gene_synonym="CRRL; REIC; RIG"
ORIGIN
        1 gcgttccggg acacacaggc ggcggctgcg ggcgcagagc ggagatgcag cggcttgggg
       61 ccaccctgct gtgcctgctg ctggcggcgg cggtccccac ggcccccgcg cccgctccga
      121 cggcgacctc ggctccagtc aagcccggcc cggctctcag ctacccgcag gaggaggcca
      181 ccctcaatga gatgttccgc gaggttgagg aactgatgga ggacacgcag cacaaattgc
      241 gcagcgcggt ggaagagatg gaggcagaag aagctgctgc taaagcatca tcagaagtga
      301 acctggcaaa cttacctccc agctatcaca atgagaccaa cacagacacg aaggttggaa
      361 ataataccat ccatgtgcac cgagaaattc acaagataac caacaaccag actggacaaa
      421 tggtcttttc agagacagtt atcacatctg tgggagacga agaaggcaga aggagccacg
      481 agtgcatcat cgacgaggac tgtgggccca gcatgtactg ccagtttgcc agcttccagt
      541 acacctgcca gccatgccgg ggccagagga tgctctgcac ccgggacagt gagtgctgtg
      601 gagaccagct gtgtgtctgg ggtcactgca ccaaaatggc caccaggggc agcaatggga
      661 ccatctgtga caaccagagg gactgccagc cggggctgtg ctgtgccttc cagagaggcc
      721 tgctgttccc tgtgtgcaca cccctgcccg tggagggcga gctttgccat gaccccgcca
      781 gccggcttct ggacctcatc acctgggagc tagagcctga tggagccttg gaccgatgcc
      841 cttgtgccag tggcctcctc tgccagcccc acagccacag cctggtgtat gtgtgcaagc
      901 cgaccttcgt ggggagccgt gaccaagatg gggagatcct gctgcccaga gaggtccccg
      961 atgagtatga agttggcagc ttcatggagg aggtgcgcca ggagctggag gacctggaga
     1021 ggagcctgac tgaagagatg gcgctgaggg agcctgcggc tgccgccgct gcactgctgg
     1081 gaggggaaga gatttagatc tggaccaggc tgtgggtaga tgtgcaatag aaatagctaa
     1141 tttatttccc caggtgtgtg ctttaggcgt gggctgacca ggcttcttcc tacatcttct
     1201 tcccagtaag tttcccctct ggcttgacag catgaggtgt tgtgcatttg ttcagctccc
     1261 ccaggctgtt ctccaggctt cacagtctgg tgcttgggag agtcaggcag ggttaaactg
     1321 caggagcagt ttgccacccc tgtccagatt attggctgct ttgcctctac cagttggcag
     1381 acagccgttt gttctacatg gctttgataa ttgtttgagg ggaggagatg gaaacaatgt
     1441 ggagtctccc tctgattggt tttggggaaa tgtggagaag agtgccctgc tttgcaaaca
     1501 tcaacctggc aaaaatgcaa caaatgaatt ttccacgcag ttctttccat gggcataggt
     1561 aagctgtgcc ttcagctgtt gcagatgaaa tgttctgttc accctgcatt acatgtgttt
     1621 attcatccag cagtgttgct cagctcctac ctctgtgcca gggcagcatt ttcatatcca
     1681 agatcaattc cctctctcag cacagcctgg ggagggggtc attgttctcc tcgtccatca
     1741 gggatctcag aggctcagag actgcaagct gcttgcccaa gtcacacagc tagtgaagac
     1801 cagagcagtt tcatctggtt gtgactctaa gctcagtgct ctctccacta ccccacacca
     1861 gccttggtgc caccaaaagt gctccccaaa aggaaggaga atgggatttt tcttttgagg
     1921 catgcacatc tggaattaag gtcaaactaa ttctcacatc cctctaaaag taaactactg
     1981 ttaggaacag cagtgttctc acagtgtggg gcagccgtcc ttctaatgaa gacaatgata
     2041 ttgacactgt ccctctttgg cagttgcatt agtaactttg aaaggtatat gactgagcgt
     2101 agcatacagg ttaacctgca gaaacagtac ttaggtaatt gtagggcgag gattataaat
     2161 gaaatttgca aaatcactta gcagcaactg aagacaatta tcaaccacgt ggagaaaatc
     2221 aaaccgagca gggctgtgtg aaacatggtt gtaatatgcg actgcgaaca ctgaactcta
     2281 cgccactcca caaatgatgt tttcaggtgt catggactgt tgccaccatg tattcatcca
     2341 gagttcttaa agtttaaagt tgcacatgat tgtataagca tgctttcttt gagttttaaa
     2401 ttatgtataa acataagttg catttagaaa tcaagcataa atcacttcaa ctgctcttct
     2461 gtagttcttg gatttctttt cccttttgac tttgaataaa tgtaaaatcc tttcagccag
     2521 aaaaa
//
LOCUS       NM_001018069            6681 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens SERPINE1 mRNA binding protein 1 (SERBP1), transcript
            variant 3, mRNA.
ACCESSION   NM_001018069
VERSION     NM_001018069.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6681)
  AUTHORS   Shilenok I, Kobzeva K, Stetskaya T, Freidin M, Soldatova M, Deykin
            A, Soldatov V, Churnosov M, Polonikov A and Bushueva O.
  TITLE     SERPINE1 mRNA Binding Protein 1 Is Associated with Ischemic Stroke
            Risk: A Comprehensive Molecular-Genetic and Bioinformatics Analysis
            of SERBP1 SNPs
  JOURNAL   Int J Mol Sci 24 (10), 8716 (2023)
   PUBMED   37240062
  REMARK    GeneRIF: SERPINE1 mRNA Binding Protein 1 Is Associated with Ischemic
            Stroke Risk: A Comprehensive Molecular-Genetic and Bioinformatics
            Analysis of SERBP1 SNPs. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6681)
  AUTHORS   Shetty S, Hofstetter J, Battaglioni S, Ritz D and Hall MN.
  TITLE     TORC1 phosphorylates and inhibits the ribosome preservation factor
            Stm1 to activate dormant ribosomes
  JOURNAL   EMBO J 42 (5), e112344 (2023)
   PUBMED   36691768
REFERENCE   3  (bases 1 to 6681)
  AUTHORS   Shan B, Qu S, Lv S, Fan D and Wang S.
  TITLE     YY1-induced long non-coding RNA small nucleolar RNA host gene 8
            promotes the tumorigenesis of melanoma via the
            microRNA-656-3p/SERPINE1 mRNA binding protein 1 axis
  JOURNAL   Bioengineered 13 (3), 4832-4843 (2022)
   PUBMED   35156513
  REMARK    GeneRIF: YY1-induced long non-coding RNA small nucleolar RNA host
            gene 8 promotes the tumorigenesis of melanoma via the
            microRNA-656-3p/SERPINE1 mRNA binding protein 1 axis.
REFERENCE   4  (bases 1 to 6681)
  AUTHORS   Zhang D, Zhang Y, Zhang X, Zhai H, Sun X and Li Y.
  TITLE     Circ_0046600 promotes hepatocellular carcinoma progression via
            up-regulating SERBP1 through sequestering miR-1258
  JOURNAL   Pathol Res Pract 228, 153681 (2021)
   PUBMED   34784519
  REMARK    GeneRIF: Circ_0046600 promotes hepatocellular carcinoma progression
            via up-regulating SERBP1 through sequestering miR-1258.
REFERENCE   5  (bases 1 to 6681)
  AUTHORS   Martini S, Davis K, Faraway R, Elze L, Lockwood N, Jones A, Xie X,
            McDonald NQ, Mann DJ, Armstrong A, Ule J and Parker PJ.
  TITLE     A genetically-encoded crosslinker screen identifies SERBP1 as a
            PKCepsilon substrate influencing translation and cell division
  JOURNAL   Nat Commun 12 (1), 6934 (2021)
   PUBMED   34836941
  REMARK    GeneRIF: A genetically-encoded crosslinker screen identifies SERBP1
            as a PKCepsilon substrate influencing translation and cell division.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 6681)
  AUTHORS   Lemos TA and Kobarg J.
  TITLE     CGI-55 interacts with nuclear proteins and co-localizes to
            p80-coilin positive-coiled bodies in the nucleus
  JOURNAL   Cell Biochem Biophys 44 (3), 463-474 (2006)
   PUBMED   16679534
  REMARK    GeneRIF: We observed that CGI-55 localizes to the nucleolus and
            co-localizes with p80-coilin positive nuclear-coiled bodies.
REFERENCE   7  (bases 1 to 6681)
  AUTHORS   Lemos TA, Passos DO, Nery FC and Kobarg J.
  TITLE     Characterization of a new family of proteins that interact with the
            C-terminal region of the chromatin-remodeling factor CHD-3
  JOURNAL   FEBS Lett 533 (1-3), 14-20 (2003)
   PUBMED   12505151
  REMARK    GeneRIF: interacts with the C-terminal region of the human
            chromatin-remodeling factor CHD-3
REFERENCE   8  (bases 1 to 6681)
  AUTHORS   Jones K, Powell J, Brown L, Greenhalgh R, Jormsjo S and Eriksson P.
  TITLE     The influence of 4G/5G polymorphism in the plasminogen activator
            inhibitor-1 gene promoter on the incidence, growth and operative
            risk of abdominal aortic aneurysm
  JOURNAL   Eur J Vasc Endovasc Surg 23 (5), 421-425 (2002)
   PUBMED   12027469
  REMARK    GeneRIF: Polymorphism of the PAI-1 gene promoter does not influence
            the development of AAA. However, the effect of PAI-1 genotype (5G5G)
            appears protective on survival following open aneurysm repair.
REFERENCE   9  (bases 1 to 6681)
  AUTHORS   Buckova D, Izakovicova Holla L and Vacha J.
  TITLE     Polymorphism 4G/5G in the plasminogen activator inhibitor-1 (PAI-1)
            gene is associated with IgE-mediated allergic diseases and asthma in
            the Czech population
  JOURNAL   Allergy 57 (5), 446-448 (2002)
   PUBMED   11972486
  REMARK    GeneRIF: The 4G allele of the 4G/5G polymorphism in the PAI-1 gene
            may be a risk factor for IgE-mediated asthma and allergic diseases.
REFERENCE   10  (bases 1 to 6681)
  AUTHORS   Heaton JH, Dlakic WM, Dlakic M and Gelehrter TD.
  TITLE     Identification and cDNA cloning of a novel RNA-binding protein that
            interacts with the cyclic nucleotide-responsive sequence in the
            Type-1 plasminogen activator inhibitor mRNA
  JOURNAL   J Biol Chem 276 (5), 3341-3347 (2001)
   PUBMED   11001948
  REMARK    GeneRIF: This gene encodes a protein, PAI-RBP1, that binds to an RNA
            sequence (cyclic nucleotide responsive sequence, CRS) in the
            plasminogen activator-inhibitor (PAI-1) mRNA that confers cAMP
            regulation of mRNA stability.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.887364.1,
            SRR18074969.1314723.1 [ECO:0000332]
            RNAseq introns :: mixed/partial sample support SAMEA1965299,
            SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000361219.11/ ENSP00000354591.6
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590559.3, AF151813.1 and AL358512.9.
            On Jun 2, 2019 this sequence version replaced NM_001018069.1.
            Transcript Variant: This variant (3) uses an alternate, in-frame
            splice site in the coding region, compared to variant 1. It encodes
            isoform 3, which is shorter than isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6681
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     gene            1..6681
                     /gene="SERBP1"
                     /gene_synonym="CGI-55; CHD3IP; HABP4L; PAI-RBP1; PAIRBP1"
                     /note="SERPINE1 mRNA binding protein 1"
                     /db_xref="GeneID:26135"
                     /db_xref="HGNC:HGNC:17860"
                     /db_xref="MIM:607378"
     CDS             103..1284
                     /gene="SERBP1"
                     /gene_synonym="CGI-55; CHD3IP; HABP4L; PAI-RBP1; PAIRBP1"
                     /note="isoform 3 is encoded by transcript variant 3;
                     chromodomain helicase DNA binding protein 3 interacting
                     protein; PAI-1 mRNA binding protein; plasminogen activator
                     inhibitor 1 RNA-binding protein; PAI1 RNA-binding protein
                     1"
                     /codon_start=1
                     /product="SERPINE1 mRNA-binding protein 1 isoform 3"
                     /protein_id="NP_001018079.1"
                     /db_xref="CCDS:CCDS30747.1"
                     /db_xref="GeneID:26135"
                     /db_xref="HGNC:HGNC:17860"
                     /db_xref="MIM:607378"
                     /translation="MPGHLQEGFGCVVTNRFDQLFDDESDPFEVLKAAENKKKEAGGGG
                     VGGPGAKSAAQAAAQTNSNAAGKQLRKESQKDRKNPLPPSVGVVDKKEETQPPVALKKE
                     GIRRVGRRPDQQLQGEGKIIDRRPERRPPRERRFEKPLEEKGEGGEFSVDRPIIDRPIR
                     GRGGLGRGRGGRGRGMGRGDGFDSRGKREFDRHSGSDRSSFSHYSGLKHEDKRGGSGSH
                     NWGTVKDELTDLDQSNVTEETPEGEEHHPVADTENKENEVEEVKEEGPKEMTLDEWKAI
                     QNKDRAKVEFNIRKPNEGADGQWKKGFVLHKSKSEEAHAEDSVMDHHFRKPANDITSQL
                     EINFGDLGRPGRGGRGGRGGRGRGGRPNRGSRTDKSSASAPDVDDPEAFPALA"
     regulatory      3415..3420
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERBP1"
                     /gene_synonym="CGI-55; CHD3IP; HABP4L; PAI-RBP1; PAIRBP1"
                     /note="hexamer: AATAAA"
     polyA_site      3438
                     /gene="SERBP1"
                     /gene_synonym="CGI-55; CHD3IP; HABP4L; PAI-RBP1; PAIRBP1"
                     /note="major polyA site"
     regulatory      3451..3456
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERBP1"
                     /gene_synonym="CGI-55; CHD3IP; HABP4L; PAI-RBP1; PAIRBP1"
                     /note="hexamer: CATAAA"
     polyA_site      3471
                     /gene="SERBP1"
                     /gene_synonym="CGI-55; CHD3IP; HABP4L; PAI-RBP1; PAIRBP1"
                     /note="major polyA site"
     regulatory      6201..6206
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERBP1"
                     /gene_synonym="CGI-55; CHD3IP; HABP4L; PAI-RBP1; PAIRBP1"
                     /note="hexamer: TATAAA"
     polyA_site      6222
                     /gene="SERBP1"
                     /gene_synonym="CGI-55; CHD3IP; HABP4L; PAI-RBP1; PAIRBP1"
                     /note="major polyA site"
     regulatory      6656..6661
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERBP1"
                     /gene_synonym="CGI-55; CHD3IP; HABP4L; PAI-RBP1; PAIRBP1"
                     /note="hexamer: AGTAAA"
     polyA_site      6681
                     /gene="SERBP1"
                     /gene_synonym="CGI-55; CHD3IP; HABP4L; PAI-RBP1; PAIRBP1"
                     /note="major polyA site"
ORIGIN
        1 ctctctcggc ccggccatct tgtgggaaga gctgaagcag gcgctcttgg ctcggcgcgg
       61 cccgctgcaa tccgtggagg aacgcgccgc cgagccacca tcatgcctgg gcacttacag
      121 gaaggcttcg gctgcgtggt caccaaccga ttcgaccagt tatttgacga cgaatcggac
      181 cccttcgagg tgctgaaggc agcagagaac aagaaaaaag aagccggcgg gggcggcgtt
      241 gggggccctg gggccaagag cgcagctcag gccgcggccc agaccaactc caacgcggca
      301 ggcaaacagc tgcgcaagga gtcccagaaa gaccgcaaga acccgctgcc ccccagcgtt
      361 ggcgtggttg acaagaaaga ggagacgcag ccgcccgtgg cgcttaagaa agaaggaata
      421 agacgagttg gaagaagacc tgatcaacaa cttcagggtg aagggaaaat aattgataga
      481 agaccagaaa ggcgaccacc tcgtgaacga agattcgaaa agccacttga agaaaagggt
      541 gaaggaggcg aattttcagt tgatagaccg attattgacc gacctattcg aggtcgtggt
      601 ggtcttggaa gaggtcgagg gggccgtgga cgtggaatgg gccgaggaga tggatttgat
      661 tctcgtggca aacgtgaatt tgataggcat agtggaagtg atagatcttc tttttcacat
      721 tacagtggcc tgaagcacga ggacaaacgt ggaggtagcg gatctcacaa ctggggaact
      781 gtcaaagacg aattaactga cttggatcaa tcaaatgtga ctgaggaaac acctgaaggt
      841 gaagaacatc atccagtggc agacactgaa aataaggaga atgaagttga agaggtaaaa
      901 gaggagggtc caaaagagat gactttggat gagtggaagg ctattcaaaa taaggaccgg
      961 gcaaaagtag aatttaatat ccgaaaacca aatgaaggtg ctgatgggca gtggaagaag
     1021 ggatttgttc ttcataaatc aaagagtgaa gaggctcatg ctgaagattc ggttatggac
     1081 catcatttcc ggaagccagc aaatgatata acgtctcagc tggagatcaa ttttggagac
     1141 cttggccgcc caggacgtgg cggcagggga ggacgaggtg gacgtgggcg tggtgggcgc
     1201 ccaaaccgtg gcagcaggac cgacaagtca agtgcttctg ctcctgatgt ggatgaccca
     1261 gaggcattcc cagctctggc ttaactggat gccataagac aaccctggtt cctttgtgaa
     1321 cccttctgtt caaagctttt gcatgcttaa ggattccaaa cgactaagaa attaaaaaaa
     1381 aaaagactgt cattcatacc attcacacct aaagactgaa ttttatctgt tttaaaaatg
     1441 aacttctccc gctacacaga agtaacaaat atggtagtca gttttgtatt tagaaatgta
     1501 ttggtagcag ggatgttttc ataattttca gagattatgc attcttcatg aatacttttg
     1561 tattgctgct tgcaaatatg catttccaaa cttgaaatat aggtgtgaac agtgtgtacc
     1621 agtttaaagc tttcacttca tttgtgtttt ttaattaagg atttagaagt tcccccaatt
     1681 acaaactggt tttaaatatt ggacatactg gttttaatac ctgctttgca tattcacaca
     1741 tggtcaactg ggacatgtta aactttgatt tgtcaaattt tatgctgtgt ggaatactaa
     1801 ctatatgtat tttaacttag ttttaatatt ttcatttttg gggaaaaatc ttttttcact
     1861 tctcatgata gctgttatat atatatgcta aatctttata tacagaaata tcagtacttg
     1921 aacaaattca aagcacattt ggtttattaa cccttgctcc ttgcatggct cattaggttc
     1981 aaattataac tgatttacat tttcagctat atttactttt taaatgcttg agtttcccat
     2041 tttaaaatct aaactagaca tcttaattgg tgaaagttgt ttaaactact tattgttggt
     2101 aggcacatcg tgtcaagtga agtagtttta taggtatggg ttttttctcc cccttcacca
     2161 gggtgggtgg aataagttga tttggccaat gtgtaatatt taaactgttc tgtaaaataa
     2221 gtgtctggcc atttggtatg atttctgtgt gtgaaaggtc ccaaaatcaa aatggtacat
     2281 ccataatcag ccaccattta acccttcctt gttctaaaac aaaaaccaaa gggcgctggt
     2341 tggtagggtg aggtggggga gtattttaat ttttggaatt tgggaagcag acagctttac
     2401 tttgtaaggt tggaacagca gcactataca tgaaatataa accaaaaacc tttactgttt
     2461 ctaaatttcc tagattgcta ttatttggtt gtaagttgag tattccacag aaagtggtaa
     2521 ttatctcttc tctcttcctc cattagaaaa ttaggtaaat aatggattcc tataatggga
     2581 gcatcaccac ttattaaaac acacatagaa tgatgaatta aaaaagtttt ctaggattgt
     2641 cttttattct gccacattta ttgataaaca gtgaaggaat ttttaaaaaa tttttaagaa
     2701 ttgtttgtca cgtcattttt agaaatgttc tacctgtata tggtaatgtc cagttttaaa
     2761 aatattggac atcttcaatc ttaaacattt ctatttagct gattggttct cacatatact
     2821 tctaaaagaa acttttatgt tataagagtt actttttgga taagatttat taatctcagt
     2881 tacctactat tctgacattt taggaaggag gtaattgttt ttaatgatgg ataaacttgt
     2941 gctggtgttt tggatcttat gatgctgagc atgttctgca ctggtgctaa tgtctaatat
     3001 aattttatat ttacacacat acgtgctacc cagagattaa tttagtccat atgaactatt
     3061 gacccattgt tcattgagac agcaacatac gcactcctaa atcagtgtgt ttagactttt
     3121 caagtatcta actcatttcc aaacatgtac catgttttat aaacctcttg atttccagca
     3181 acatactata gaaaacacct gctactcaaa acacaacttc tcagtgtcat ccattgctgt
     3241 cgtgagagac aacatagcaa tatctggtat gttgcaagct ttcaagatag cctgaactta
     3301 aaaagttggt gcattagttg tatctgatgg atataaattt gcctcctagt tcactttgtg
     3361 tcaagagcta aaactgtgaa cctaactttc tcttattggt gggtaataac tgaaaataaa
     3421 gatttatttt catgctcact tcttaaaagt cataaaaaca atcaaatagg atcatgttta
     3481 ttgtcatgtg tttcctggtt tctgacctgt gtgcacaccc ctgtgtgttt ataattttta
     3541 aattgaattt tatatggggt ttttatttgc taaaaaccag gctgttgaat cacatttggg
     3601 aagggtactt atcttaatga ctaatgactt aattgggaaa gttgaattct tgtaaaatac
     3661 aaaatccaag gacttcttgg atttaatctg attgtcactt cttagcagat cacttttttg
     3721 ataatgaaag ttaagcatac tgaatgctac ttttgattga caaactggct ataatagtct
     3781 aggggaaaaa tccctaaaca gataaagatt cctaaagtaa tggtggcagc tgatgtttca
     3841 gtgaactttt atcttgatgc gtttaaatgg aagtaatgcc agacctgaga tttttaaggc
     3901 atttttacag cttgtattga aatgattgga gacatggttt ctttattagc tattttgaga
     3961 cctgtggagt taagcaagac ttttaaaaat tggcaccata tacatctagt tagttccttt
     4021 actcttattt ttttaaataa aagtagtaca catcatttcc agggttgtaa atatatttgg
     4081 ggcttgtttt tggtatggat ttaaaaggag gatattaagt attcattcta attttgttat
     4141 ttttctagtt gccagagatg gttgcactga aatagaacag ggagttgcat acaaagccta
     4201 aatgtgtatt ggatttcgaa aatactaggt tggtgcaatt ggttttgtac caacctaaca
     4261 tgtctttagg aaagtaccat catgtggaag gaaacaacag gtgttaaaag gttcaaagga
     4321 atgagaaata ggaagttact agaacctaac tgatgttgac cttagaggta agattattca
     4381 ggtatattag tggacctcca gtccaatggt atagcaaatt ccagggatct caggtgcatg
     4441 caattttact ttctaaagta aacacttaga aaatagatta taacccagac gttttggatt
     4501 atactgagac aaatatgtaa ataagtttta gcaagtctga acatgtacca gcgagatctt
     4561 caggttaact aagaaaagcc cagaaacttc attatttact gtgctttgta tggcataact
     4621 ggtaacaagg cagtaaaatg atacatattt gaactggacc atagtaatta aatgatttat
     4681 caatatcatt tgcaagataa ttgtcaggtt gagttaatag taagtggcag cttcccagaa
     4741 atttgggtta tttggcctaa gctgtgccct gggattacct cttcatcttc cttgactttt
     4801 aagttcaaat ttggaggtta tgtgaagtga ttgaaataaa tctttcaggc tgaggaagtc
     4861 ggtaatttca agaatatagt gaaaacaagg ttgtaatcta aacatgagaa gcttaagttt
     4921 aggaaatggt tagaatataa attgctaaag ccatcatgat tttggccaca gatgaaaata
     4981 tgaacactgg aaatgagcgc catttaaatg agatgctgta tgtaagccag gggtcagcaa
     5041 agttcagcct gtgacctggt gtgtgtgggg gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt
     5101 gtgtccgtgt ccctgagtta agaatggttt ttaggcttgt ataggattaa aaaaaaaaaa
     5161 aacccacaga aaaatgtagg cagcccagca taagataccg cctttcacag aaatgtttgc
     5221 tgaccccgga actgtcactc tcgggttaca agagtttgtt tctttgaaac agtctggctc
     5281 tgtcacccag gctggagtgc agtggcatga tctcaggtca ctgcagcctc cacctcccgg
     5341 gttcaagcaa ttctgcctca gcctcctgag tagctgggat tacaggtgtg caccaccaca
     5401 gacagctaat tttacaggtg tacaccacca cacccaagaa tcacttgaac ccgggaggtg
     5461 ggggttgcag tgagccaaga tcatagcact gtactccagt ctgggtgaca cactgtctga
     5521 aaaataaaag tttagttcta ggtacaaatt aagtggtcta cccaacagga agctgtgaaa
     5581 ttagaagtaa ttttaaagca tactttacac ctctatataa tcaaagtaag ggcaagataa
     5641 aacttgttag taaaacatgt tttattattt tttagatagg tagcctgcaa cataaaatat
     5701 attttgaaag ctgttaaggg gtgtataatc tgttaaaaaa taccatgatt agtatttcac
     5761 atttagtgac tcagatccct ttgtgtaagt cctttgcgtt gtgcaaagag gtttttctat
     5821 gagatgagaa ttatgaacac ttcatatagg taaattccat aggttgagct ggggcagaaa
     5881 ttaatggctc ctggagattg catctttttt tttttttttt tgagcttaga attcccattt
     5941 ggacagaatt tagcttttgt gctgttgatt acttctgtac taaactggta gccaattgtt
     6001 cacttctaaa tggaagggaa aaagttaccc acacaagtta gaaaatgatt taccgaatta
     6061 tttttttgag ttagtatgta tatactgttt taaatcagta atgtttgttc cttttgctgc
     6121 ccatttggga gtatgtggca attcctagtg ctcttgtatg acattactct tcttgagact
     6181 tgtatatgca agaaagtata tataaaagat gcctggtggt aactttgtat ctgagttctg
     6241 attcattatg gacttttaga aatctattta gataattggt tcatactagg tgctcaatta
     6301 ctctgacctt gtgtggctta atccttaaat agttgcttta ggtgttactg ggtggaagca
     6361 tggaaagtga agggctaata ttaaggattt ttatgtatta ctgagtaggg aaagtgggaa
     6421 gtagcttatc tttggacagt tgtattactt tgcactaatc accttgtttg cagttgtagc
     6481 tgattcagtt ctagatttta ggaccaaaaa gatctctaat ttaaagaaac agtttttata
     6541 tacctagaat gaagattctg tttaaagcgg ttttggttaa cttggttctt gacatttgcc
     6601 taaaattttg ttggattggg actaaaatgt tctattagcc aatgaataac gtccaagtaa
     6661 atttttgttt tattttggga a
//
LOCUS       NM_001018071            4819 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript
            variant 3, mRNA.
ACCESSION   NM_001018071
VERSION     NM_001018071.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4819)
  AUTHORS   Lipinski S, Grabe N, Jacobs G, Billmann-Born S, Till A, Hasler R,
            Aden K, Paulsen M, Arlt A, Kraemer L, Hagemann N, Erdmann KS,
            Schreiber S and Rosenstiel P.
  TITLE     RNAi screening identifies mediators of NOD2 signaling: implications
            for spatial specificity of MDP recognition
  JOURNAL   Proc Natl Acad Sci U S A 109 (52), 21426-21431 (2012)
   PUBMED   23213202
REFERENCE   2  (bases 1 to 4819)
  AUTHORS   Huang J, Furuya A, Hayashi K and Furuichi T.
  TITLE     Interaction between very-KIND Ras guanine exchange factor and
            microtubule-associated protein 2, and its role in dendrite
            growth--structure and function of the second kinase noncatalytic
            C-lobe domain
  JOURNAL   FEBS J 278 (10), 1651-1661 (2011)
   PUBMED   21385318
REFERENCE   3  (bases 1 to 4819)
  AUTHORS   Stenzel N, Fetzer CP, Heumann R and Erdmann KS.
  TITLE     PDZ-domain-directed basolateral targeting of the peripheral membrane
            protein FRMPD2 in epithelial cells
  JOURNAL   J Cell Sci 122 (Pt 18), 3374-3384 (2009)
   PUBMED   19706687
  REMARK    GeneRIF: These results provide novel insights into the molecular
            function of FRMPD2 and into the targeting mechanism of peripheral
            membrane proteins in polarized epithelial cells.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CR749241.1, SRR1803613.146982.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374201.8/ ENSP00000363317.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC074325.7 and AC013284.9.
            On Nov 22, 2018 this sequence version replaced NM_001018071.3.
            Summary: This gene encodes a peripheral membrane protein and is
            located in a region of chromosome 10q that contains a segmental
            duplication. This copy of the gene is full-length and is in the
            telomeric duplicated region. Two other more centromerically
            proximal copies of the gene are partial and may represent
            pseudogenes. This full-length gene appears to function in the
            establishment and maintenance of cell polarization. The protein is
            recruited to cell-cell junctions in an E-cadherin-dependent manner,
            and is selectively localized at the basolateral membrane in
            polarized epithelial cells. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Dec 2009].
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest isoform (3).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4819
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     gene            1..4819
                     /gene="FRMPD2"
                     /gene_synonym="PDZD5C; PDZK4; PDZK5C"
                     /note="FERM and PDZ domain containing 2"
                     /db_xref="GeneID:143162"
                     /db_xref="HGNC:HGNC:28572"
                     /db_xref="MIM:613323"
     misc_feature    97..99
                     /gene="FRMPD2"
                     /gene_synonym="PDZD5C; PDZK4; PDZK5C"
                     /note="upstream in-frame stop codon"
     CDS             130..4059
                     /gene="FRMPD2"
                     /gene_synonym="PDZD5C; PDZK4; PDZK5C"
                     /note="isoform 3 is encoded by transcript variant 3; PDZ
                     domain containing 5C; FERM and PDZ domain-containing
                     protein 2; PDZ domain-containing protein 4"
                     /codon_start=1
                     /product="FERM and PDZ domain-containing protein 2 isoform
                     3"
                     /protein_id="NP_001018081.4"
                     /db_xref="CCDS:CCDS31195.1"
                     /db_xref="GeneID:143162"
                     /db_xref="HGNC:HGNC:28572"
                     /db_xref="MIM:613323"
                     /translation="MQPLTKDAGMSLSSVTLASALQVRGEALSEEEIWSLLFLAAEQLL
                     EDLRNDSSDYVVCPWSALLSAAGSLSFQGRVSHIEAAPFKAPELLQGQSEDEQPDASQM
                     HVYSLGMTLYWSAGFHVPPHQPLQLCEPLHSILLTMCEDQPHRRCTLQSVLEACRVHEK
                     EVSVYPAPAGLHIRRLVGLVLGTISEVEKRVVEESSSVQQNRSYLLRKRLRGTSSESPA
                     AQAPECLHPCRVSERSTETQSSPEPHWSTLTHSHCSLLVNRALPGADPQDQQAGRRLSS
                     GSVHSAADSSWPTTPSQRGFLQRRSKFSRPEFILLAGEAPMTLHLPGSVVTKKGKSYLA
                     LRDLCVVLLNGQHLEVKCDVESTVGAVFNAVTSFANLEELTYFGLAYMKSKEFFFLDSE
                     TRLCKIAPEGWREQPQKTSMNTFTLFLRIKFFVSHYGLLQHSLTRHQFYLQLRKDILEE
                     RLYCNEEILLQLGVLALQAEFGNYPKEQVESKPYFHVEDYIPASLIERMTALRVQVEVS
                     EMHRLSSALWGEDAELKFLRVTQQLPEYGVLVHQVFSEKRRPEEEMALGICAKGVIVYE
                     VKNNSRIAMLRFQWRETGKISTYQKKFTITSSVTGKKHTFVTDSAKTSKYLLDLCSAQH
                     GFNAQMGSGQPSHVLFDHDKFVQMANLSPAHQARSKPLIWIQRLSCSENELFVSRLQGA
                     AGGLLSTSMDNFNVDGSKEAGAEGIGRSPCTGREQLKSACVIQKPMTWDSLSGPPVQSM
                     HAGSKNNRRKSFIAEPGREIVRVTLKRDPHRGFGFVINEGEYSGQADPGIFISSIIPGG
                     PAEKAKTIKPGGQILALNHISLEGFTFNMAVRMIQNSPDNIELIISQSKGVGGNNPDEE
                     KNSTANSGVSSTDILSFGYQGSLLSHTQDQDRNTEELDMAGVQSLVPRLRHQLSFLPLK
                     GAGSSCPPSPPEISAGEIYFVELVKEDGTLGFSVTGGINTSVPYGGIYVKSIVPGGPAA
                     KEGQILQGDRLLQVDGVILCGLTHKQAVQCLTGPGQVARLVLERRVPRSTQQCPSANDS
                     MGDERTAVSLVTALPGRPSSCVSVTDGPKFEVKLKKNANGLGFSFVQMEKESCSHLKSD
                     LVRIKRLFPGQPAEENGAIAAGDIILAVNGRSTEGLIFQEVLHLLRGAPQEVTLLLCRP
                     PPGALPELEQEWQTPELSADKEFTRATCTDSCTSPILDQEDSWRDSASPDAGEGLGLRP
                     ESSQKAIREAQWGQNRERPWASSLTHSPESHPHLCKLHQERDESTLATSLEKDVRQNCY
                     SVCDIMRLGRYSFSSPLTRLSTDIF"
     misc_feature    769..876
                     /gene="FRMPD2"
                     /gene_synonym="PDZD5C; PDZK4; PDZK5C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DX3.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    925..1035
                     /gene="FRMPD2"
                     /gene_synonym="PDZD5C; PDZK4; PDZK5C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DX3.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2704..2769
                     /gene="FRMPD2"
                     /gene_synonym="PDZD5C; PDZK4; PDZK5C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DX3.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3739..3813
                     /gene="FRMPD2"
                     /gene_synonym="PDZD5C; PDZK4; PDZK5C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68DX3.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4592..4597
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FRMPD2"
                     /gene_synonym="PDZD5C; PDZK4; PDZK5C"
                     /note="hexamer: AATAAA"
     polyA_site      4610
                     /gene="FRMPD2"
                     /gene_synonym="PDZD5C; PDZK4; PDZK5C"
                     /note="major polyA site"
     regulatory      4798..4803
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FRMPD2"
                     /gene_synonym="PDZD5C; PDZK4; PDZK5C"
                     /note="hexamer: ATTAAA"
     polyA_site      4819
                     /gene="FRMPD2"
                     /gene_synonym="PDZD5C; PDZK4; PDZK5C"
ORIGIN
        1 agtaaacaaa gacagcggca acagtgctgg tggcagggag ctccgcggac agacttgcaa
       61 gagacccctg ctccttgttg gaaagttgtc ccatgatgaa ggcctagacc tggtcacgga
      121 gacttttgga tgcagccttt aacgaaggac gcaggcatga gcctgtcctc tgtgacgctg
      181 gccagcgccc tacaggtcag gggtgaagct ctgtctgagg aggaaatctg gtccctcctg
      241 ttcctggccg ctgagcagct cctggaagac ctccgcaacg attcctcgga ctatgtggtt
      301 tgcccctggt cagccctgct ttctgcagct ggaagccttt ctttccaagg ccgtgtttct
      361 catatagagg ctgctccttt caaggcccct gaactgctac agggacagag tgaggatgag
      421 cagcctgatg catctcagat gcatgtctat tctttaggaa tgaccctcta ctggtcagca
      481 gggtttcatg ttccgccaca tcagcccctg cagctctgcg agcccctgca ctccatcctg
      541 ctgaccatgt gtgaagacca gcctcacagg cggtgcacgt tgcagtcggt tctggaagct
      601 tgtcgggttc atgagaaaga agtgtctgtc tacccagccc ctgctggtct ccacatcaga
      661 aggctggttg gcttggttct gggtaccatt tctgaggtgg agaaaagagt tgtggaggaa
      721 agctcctctg tgcagcagaa cagaagctac ctgctcagga agaggctgcg tgggacaagc
      781 agcgagagcc cagcggcaca ggccccggag tgtctgcatc cttgcagagt ttcagaaaga
      841 agcacggaga cccagagctc accagagccc cattggagca ccttgacaca cagtcactgc
      901 agcctccttg ttaaccgcgc tcttccagga gcagatcccc aggaccagca ggcgggccgg
      961 aggctcagct ctggatctgt gcactcggca gcagacagct catggccaac aactccttct
     1021 cagaggggtt ttctgcaaag aaggagcaag ttttccaggc cagagttcat cctgttggct
     1081 ggagaggccc cgatgacact acatctgccg ggatcggttg tgaccaaaaa agggaaatcc
     1141 tatttggctc tcagggacct ctgtgtggtc ctgctgaacg ggcagcacct ggaggtaaaa
     1201 tgtgatgttg aatcaacagt gggagctgtc ttcaatgccg tgacatcctt tgccaacctc
     1261 gaggaactca cctactttgg cttggcgtat atgaaaagca aagagttctt tttcctggac
     1321 agtgaaacca gattgtgcaa aatagctcct gaaggctgga gagagcagcc tcagaagacc
     1381 tccatgaata ccttcacact cttcctgagg ataaagttct ttgtcagcca ctatgggctg
     1441 ctccagcaca gcctgacaag gcaccagttt tacctgcagc ttcggaaaga tatcctggag
     1501 gagaggctgt actgcaatga agagatactg ctgcagctgg gggtccttgc cttgcaggct
     1561 gagtttggca attaccctaa ggagcaggtg gagagtaagc catactttca cgttgaagat
     1621 tacatcccag cgagtctgat cgagaggatg accgctctac gggtccaggt tgaagtctca
     1681 gagatgcacc ggctcagctc tgcactgtgg ggagaggatg ctgagctgaa gttcttgagg
     1741 gtcactcagc agctcccaga atacggtgtg ctggttcacc aagtattctc agagaagagg
     1801 aggccagaag aggagatggc cctggggatc tgtgccaagg gtgtcatagt ctatgaagtg
     1861 aaaaacaaca gcagaattgc aatgttacgg tttcagtgga gagaaaccgg gaagatttct
     1921 acttatcaaa aaaagttcac catcacaagc agtgtcactg ggaagaagca cacatttgtc
     1981 acagattcag ccaagaccag taaatactta ctggacctct gctcagccca gcatgggttt
     2041 aatgcacaga tgggctctgg gcagccttcc catgttttat ttgaccatga taagtttgtg
     2101 caaatggcca atttgagtcc tgcacaccag gcccggtcta agcctctcat ttggattcag
     2161 agattgtcat gctcagaaaa cgagttgttt gtatccaggc ttcagggtgc tgcaggaggc
     2221 ctgctgagta catcaatgga taacttcaac gtggacggca gcaaggaggc tggagcagaa
     2281 ggcatcgggc gcagcccctg cactggccgg gagcagctga agagtgcctg tgtgatccag
     2341 aagccaatga cctgggactc tctctctgga ccacctgttc agagcatgca tgcaggctca
     2401 aagaataata ggaggaagag ctttatagct gaaccgggcc gagaaattgt acgtgtgaca
     2461 ctgaaacgtg acccacatcg tggttttggg tttgtcatta atgagggaga gtattcaggc
     2521 caagctgacc ctggcatttt tatatcttct attatacctg gaggaccagc agaaaaagca
     2581 aaaacgatca aaccaggagg gcagatacta gccctgaatc acatcagtct ggagggcttc
     2641 acattcaaca tggctgttag gatgatccag aattcccctg acaacataga attaattatt
     2701 tctcagtcaa aaggtgttgg tggaaataac ccagatgaag aaaagaatag cacagccaat
     2761 tctggggtct cctctacaga catcctgagc ttcgggtacc agggaagttt gttgtcacac
     2821 acacaagacc aggacagaaa tactgaagaa ctagacatgg ctggggtgca gagcttagtg
     2881 cccaggctga gacatcagct ttcctttctg ccgttaaagg gtgctggttc ttcttgtcct
     2941 ccatcacctc cagaaatcag tgctggtgaa atctactttg tggaactggt taaagaagat
     3001 gggacacttg gattcagtgt aactggtggc attaacacca gtgtgccata tggtggtatc
     3061 tatgtgaaat ccattgttcc tggaggacca gctgccaagg aagggcagat cctacagggt
     3121 gaccgactcc tgcaggtgga tggagtgatt ctgtgcggcc tcacccacaa gcaggctgtg
     3181 cagtgcctga cgggtcctgg gcaggttgca agactggtct tagagagaag agtccccagg
     3241 agtacacagc agtgtccttc tgctaatgac agcatgggag atgaacgcac ggctgtttcc
     3301 ttggtaacag ccttgcctgg caggccttcg agctgtgtct cagtgacaga tggtcctaag
     3361 tttgaagtca aactaaaaaa gaatgccaat ggtttgggat tcagtttcgt gcagatggag
     3421 aaagagagct gcagccatct caaaagtgat cttgtgagga ttaagaggct ctttccgggg
     3481 cagccagctg aggagaatgg ggccattgca gctggtgaca ttatcctggc cgtgaatgga
     3541 aggtccacgg aaggcctcat cttccaggag gtgctgcatt tactgagagg ggccccacag
     3601 gaagtcacgc tcctcctttg ccgaccccct ccaggtgcgc tgcctgagct ggagcaggaa
     3661 tggcagacac ctgaactctc agctgacaaa gaattcacca gggcaacatg tactgactca
     3721 tgtaccagcc ccatcctgga tcaagaggac agctggaggg acagtgcctc cccagatgca
     3781 ggggaaggcc tgggtctcag gccagagtct tcccaaaagg ccatcagaga ggcacaatgg
     3841 ggccaaaaca gagagagacc ttgggccagt tccttgacac attctcctga gtcccaccct
     3901 catttatgca aacttcacca agaaagggat gaatcaacat tggcgacctc tttggaaaag
     3961 gatgtgaggc aaaactgcta ttcagtttgt gatatcatga gacttggaag atattccttc
     4021 tcatctcctc taaccagact ttcgacagat attttctgag caccttctct gcatgtctgc
     4081 agtgctgtgt aaaatgccct acctttgcat ggactattct ttctaatcaa gaggcgtgtg
     4141 tggcgaactt ggggcagccc ctggaagtct tgttctttga ccattacgtc tgcggctgca
     4201 tcaccagata atgagcttca ccactcgtct gcctcctgtg tccttccgcg gggagtaaat
     4261 gtcacttcag cttgccgcat ctctaaatag gcaaattttc agtgctcaga aaaggacctg
     4321 atctttgcac aaagtgcttt gatggttgcc tgcttgagtc actcccaatc ccttcctgaa
     4381 gccctttctt tataattctt ctgttgaaat agccatcata ttcacagtac taatcacagc
     4441 atctcacatt tactaaaaac ttaccccata ccaggaaccc agagttgggg gggctgtgtc
     4501 agaattatgt aatttacgtg tcccaataat cctagacgct tcttgaccat ctagttttgt
     4561 caaatgagaa aactgaggtt ccaaagaagt caataaactt gtccaaagtc tgaccgactc
     4621 tgcttgccat gtgacgagtc tgtcttagaa ctgggtcatt gccctgcttg caatgctgtg
     4681 ccctctggca agccccccca tccccccggt ctcctgagct cggtaaggtg ctccagctgc
     4741 ttctatcata gcacttccta catggactgt aacatttctt tactgctcca acttctcatt
     4801 aaattggggg ctcctcaaa
//
LOCUS       NM_001018072            5746 bp    mRNA    linear   PRI 16-JUL-2023
DEFINITION  Homo sapiens ankyrin repeat and BTB domain containing 3 (ABTB3),
            transcript variant a, mRNA.
ACCESSION   NM_001018072
VERSION     NM_001018072.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5746)
  AUTHORS   Bygrave AM, Sengupta A, Jackert EP, Ahmed M, Adenuga B, Nelson E,
            Goldschmidt HL, Johnson RC, Zhong H, Yeh FL, Sheng M and Huganir RL.
  TITLE     Btbd11 supports cell-type-specific synaptic function
  JOURNAL   Cell Rep 42 (6), 112591 (2023)
   PUBMED   37261953
  REMARK    Publication Status: Available-Online prior to print
REFERENCE   2  (bases 1 to 5746)
  AUTHORS   Cobb J, Cule E, Moncrieffe H, Hinks A, Ursu S, Patrick F, Kassoumeri
            L, Flynn E, Bulatovic M, Wulffraat N, van Zelst B, de Jonge R, Bohm
            M, Dolezalova P, Hirani S, Newman S, Whitworth P, Southwood TR, De
            Iorio M, Wedderburn LR and Thomson W.
  CONSRTM   Childhood Arthritis Response to Medication Study (CHARMS); Childhood
            Arthritis Prospective Study (CAPS); BSPAR study group
  TITLE     Genome-wide data reveal novel genes for methotrexate response in a
            large cohort of juvenile idiopathic arthritis cases
  JOURNAL   Pharmacogenomics J 14 (4), 356-364 (2014)
   PUBMED   24709693
REFERENCE   3  (bases 1 to 5746)
  AUTHORS   Need AC, Attix DK, McEvoy JM, Cirulli ET, Linney KL, Hunt P, Ge D,
            Heinzen EL, Maia JM, Shianna KV, Weale ME, Cherkas LF, Clement G,
            Spector TD, Gibson G and Goldstein DB.
  TITLE     A genome-wide study of common SNPs and CNVs in cognitive performance
            in the CANTAB
  JOURNAL   Hum Mol Genet 18 (23), 4650-4661 (2009)
   PUBMED   19734545
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2144120,
            SAMEA2145240 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000280758.10/ ENSP00000280758.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC027931.1, AI638039.1, AK124835.1, AK127012.1 and AK122818.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001018072.1.
            Transcript Variant: This variant (a) represents the longest
            transcript and encodes the longest isoform (a).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5746
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.3"
     gene            1..5746
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /note="ankyrin repeat and BTB domain containing 3"
                     /db_xref="GeneID:121551"
                     /db_xref="HGNC:HGNC:23844"
     misc_feature    493..495
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /note="upstream in-frame stop codon"
     CDS             508..3822
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /note="isoform a is encoded by transcript variant a;
                     ankyrin repeat and BTB/POZ domain-containing protein
                     BTBD11; ANK-repeat BTB domain containing protein; BTB/POZ
                     domain-containing protein 11; BTB (POZ) domain containing
                     11; BTB domain containing 11; ankyrin repeat and BTB/POZ
                     domain-containing protein 3"
                     /codon_start=1
                     /product="ankyrin repeat and BTB/POZ domain-containing
                     protein 3 isoform a"
                     /protein_id="NP_001018082.1"
                     /db_xref="CCDS:CCDS31893.1"
                     /db_xref="GeneID:121551"
                     /db_xref="HGNC:HGNC:23844"
                     /translation="MARRGKKPVVRTLEDLTLDSGYGGAADSVRSSNLSLCCSDSHPAS
                     PYGGSCWPPLADSMHSRHNSFDTVNTALVEDSEGLDCAGQHCSRLLPDLDEVPWTLQEL
                     EALLLRSRDPRAGPAVPGGLPKDALAKLSTLVSRALVRIAKEAQRLSLRFAKCTKYEIQ
                     SAMEIVLSWGLAAHCTAAALAALSLYNMSSAGGDRLGRGKSARCGLTFSVGRVYRWMVD
                     SRVALRIHEHAAIYLTACMESLFRDIYSRVVASGVPRSCSGPGSGSGSGPGPSSGPGAA
                     PAADKEREAPGGGAASGGACSAASSASGGSSCCAPPAAAAAAVPPAAAANHHHHHHHAL
                     HEAPKFTVETLEHTVNNDSEIWGLLQPYQHLICGKNASGVLCLPDSLNLHRDPQRSNKP
                     GELPMFSQSELRTIEQSLLATRVGSIAELSDLVSRAMHHLQPLNAKHHGNGTPLHHKQG
                     ALYWEPEALYTLCYFMHCPQMEWENPNVEPSKVNLQVERPFLVLPPLMEWIRVAVAHAG
                     HRRSFSMDSDDVRQAARLLLPGVDCEPRQLRADDCFCASRKLDAVAIEAKFKQDLGFRM
                     LNCGRTDLVKQAVSLLGPDGINTMSEQGMTPLMYACVRGDEAMVQMLLDAGADLNVEVV
                     STPHKYPSVHPETRHWTALTFAVLHGHIPVVQLLLDAGAKVEGSVEHGEENYSETPLQL
                     AAAVGNFELVSLLLERGADPLIGTMYRNGISTTPQGDMNSFSQAAAHGHRNVFRKLLAQ
                     PEKEKSDILSLEEILAEGTDLAETAPPPLCASRNSKAKLRALREAMYHSAEHGYVDVTI
                     DIRSIGVPWTLHTWLESLRIAFQQHRRPLIQCLLKEFKTIQEEEYTEELVTQGLPLMFE
                     ILKASKNEVISQQLCVIFTHCYGPYPIPKLTEIKRKQTSRLDPHFLNNKEMSDVTFLVE
                     GRPFYAHKVLLFTASPRFKALLSSKPTNDGTCIEIGYVKYSIFQLVMQYLYYGGPESLL
                     IKNNEIMELLSAAKFFQLEALQRHCEIICAKSINTDNCVDIYNHAKFLGVTELSAYCEG
                     YFLKNMMVLIENEAFKQLLYDKNGEGTGQDVLQDLQRTLAIRIQSIHLSSSKGSVV"
     misc_feature    1009..1071
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /note="propagated from UniProtKB/Swiss-Prot (A6QL63.3);
                     transmembrane region"
     misc_feature    1285..1410
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /note="propagated from UniProtKB/Swiss-Prot (A6QL63.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2314..2403
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /note="propagated from UniProtKB/Swiss-Prot (A6QL63.3);
                     Region: ANK 1. /evidence=ECO:0000255"
     misc_feature    2452..2541
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /note="propagated from UniProtKB/Swiss-Prot (A6QL63.3);
                     Region: ANK 2. /evidence=ECO:0000255"
     misc_feature    2566..2655
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /note="propagated from UniProtKB/Swiss-Prot (A6QL63.3);
                     Region: ANK 3. /evidence=ECO:0000255"
     misc_feature    2695..2784
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /note="propagated from UniProtKB/Swiss-Prot (A6QL63.3);
                     Region: ANK 4. /evidence=ECO:0000255"
     misc_feature    2980..3069
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /note="propagated from UniProtKB/Swiss-Prot (A6QL63.3);
                     Region: ANK 5. /evidence=ECO:0000255"
     regulatory      5722..5727
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /note="hexamer: ATTAAA"
     polyA_site      5746
                     /gene="ABTB3"
                     /gene_synonym="ABTB2B; BTBD11"
                     /note="major polyA site"
ORIGIN
        1 gccacggccg ctgctgcgct ccggtgcagg gcaggctggc gccgagcgaa ccagggccgg
       61 gaactgggag ccgggagccg ggagccagct gcccgcggag ctgcggcggc ggcggcatct
      121 ggggtggtct cagtcccacg aacaccgtgg ccggcgcccg gtggctactg cgcccagcgg
      181 ggctcaggga agagcggtct agacactttt tattttggaa gaaaggggca agccccggcg
      241 ggagcttcct tcccggcctg gctcgctccc cattgcgccc agctccggcc cggactctgg
      301 aagatgactc cagggtctgc tctgtatatt ccagcggcgg cagttccggg aggcagccga
      361 aagtactaac agttggtagc agcggctagt ggaaaagtga gccaaggcgg cgcggactcg
      421 gctctccccg cgccccgcgg cactcgctgc tcctcgccgc tccttccctt tggctcccag
      481 gcggctgcag catgaagtgg cgcagcgatg gccaggagag gtaagaagcc cgtggtgaga
      541 acgctggagg atctgacgct ggactcgggt tatggtggcg cggcggactc ggtgcgctcc
      601 tccaacttgt ctttgtgctg ttccgactcg cacccggcgt ccccgtatgg cgggagctgc
      661 tggccgcctc tagctgactc catgcacagc cggcacaaca gctttgacac tgtcaacact
      721 gccctggtgg aagactccga ggggctggac tgcgccggcc agcactgctc gcggctgctg
      781 ccggacctag acgaggtccc ctggactctc caggagctgg aggcgctgct gctgcgttcg
      841 cgggatcccc gggcaggccc ggcggtcccc ggcggcctgc ccaaggacgc gctggccaag
      901 ctgtcgacgc tggtgagccg ggcgctggtg cgcatagcca aagaggcgca gcgcctgagc
      961 ctgcgcttcg ccaagtgcac caagtacgag atccagagcg ccatggagat cgtgctgtcc
     1021 tggggcctgg ccgcgcactg tacggcggct gcgctggccg cactgtccct ctacaacatg
     1081 agcagcgccg gcggcgaccg cctgggccgc ggcaagtcgg cccgctgcgg cctcaccttc
     1141 tccgtgggcc gcgtgtatcg ctggatggtg gacagccgcg tggcgctgcg catccacgag
     1201 cacgccgcca tctacctgac agcctgcatg gagagcctct tccgggacat ctactcgcgg
     1261 gtcgtggcct ccggggtgcc ccggagctgc agtggccctg ggtcaggctc gggctccggc
     1321 ccaggcccga gctcgggccc tggtgcggcc cccgcggcgg ataaagagcg ggaggcgccc
     1381 gggggaggag cggcgagcgg cggcgcctgc agcgcagcca gcagcgccag cgggggcagc
     1441 agctgttgcg ccccgccggc cgccgcggcc gccgcagtcc cgccggcagc cgccgccaac
     1501 caccaccatc accaccacca tgcgctccac gaggcgccca agttcaccgt ggagaccctg
     1561 gagcacacgg tcaacaacga ctcggagatc tggggtctcc tgcagcccta ccagcacctg
     1621 atctgcggga agaacgccag cggggtgctg tgcctaccag acagcctgaa tcttcacaga
     1681 gacccacagc ggtcaaacaa gccaggggaa ctgcccatgt tcagccagtc ggagctgagg
     1741 accatcgagc agtctttgct ggccacgcgc gtaggcagca tcgccgaatt gagtgacctg
     1801 gtgtcccgtg caatgcatca cctgcagccc ctcaatgcca agcaccacgg caatggcacc
     1861 cccctgcacc acaagcaggg ggcactgtac tgggagcccg aggccctgta caccctttgc
     1921 tatttcatgc actgcccaca aatggaatgg gaaaacccca acgtggagcc ttccaaagtc
     1981 aacctccagg tggaaaggcc cttcctcgtg ctgccgccgc tgatggagtg gatccgggtg
     2041 gccgtggcgc acgccggcca ccgccgcagc ttctccatgg acagcgacga cgtccgccag
     2101 gcggcccggc tgctgctgcc cggcgtggac tgcgagccgc gccagctcag ggccgacgac
     2161 tgcttttgtg catctcgaaa gctggatgcg gtggccatcg aagccaagtt taagcaggac
     2221 ctgggtttcc ggatgctgaa ctgtggacga acagacctgg tgaagcaggc agtgtctctg
     2281 ctggggcccg atgggatcaa caccatgagc gaacagggca tgactcccct gatgtatgcc
     2341 tgcgtccgtg gggacgaggc gatggttcag atgctgctgg atgccggagc tgacctgaat
     2401 gtggaggttg tcagtactcc tcataaatat ccatccgtcc accccgagac ccgccattgg
     2461 acggctctga cttttgctgt gttgcatgga catattcctg tagttcagct cctcctggat
     2521 gctggggcca aggtggaagg ctcagtggag catggcgagg agaactactc ggaaacaccc
     2581 ctccagctgg cagctgctgt aggaaatttt gagctggtta gtttgctgtt ggagcgtggt
     2641 gccgatcccc tgataggaac catgtacagg aatggaattt ctacaacccc ccagggtgat
     2701 atgaactctt tcagccaggc tgcagcccac ggacacagga atgtgttccg caaactgctc
     2761 gcccagccag agaaggagaa gagtgatatc ctgtccctgg aggagattct ggccgagggg
     2821 actgacctgg cggagacagc cccgcccccc ttgtgcgcca gccgcaacag caaggccaaa
     2881 ctgagggccc tgagggaggc catgtatcac agcgctgagc atggctacgt ggatgtcaca
     2941 attgatatca ggagcatagg cgtcccgtgg actctgcaca cgtggctgga gtctttgcgg
     3001 atcgccttcc agcagcaccg caggcctctc atccagtgct tgttaaagga gtttaagacc
     3061 attcaggagg aggaatacac ggaggagctc gttacccaag gcctgcccct gatgtttgag
     3121 atcctgaaag cgagcaagaa tgaagtgatc agccagcagc tgtgcgtcat cttcacacac
     3181 tgctacgggc cctaccccat ccccaagctc acagaaatca aacggaaaca gacctcgcgc
     3241 ttggatcctc attttcttaa caataaagaa atgtctgatg ttacatttct ggtagaagga
     3301 agaccatttt atgctcacaa agtgctgtta tttacagcct ctccaaggtt caaagcactc
     3361 ctctccagca agccgacaaa tgatggcacc tgcatagaga ttggttatgt gaaatactcc
     3421 atctttcagc tggttatgca gtatctctac tatggtggcc cagagtcact gctcattaaa
     3481 aacaatgaga tcatggagct tctgtctgct gctaagtttt tccagctgga ggctttgcag
     3541 cgacactgtg agattatctg tgcgaaaagc atcaataccg acaactgtgt ggatatttac
     3601 aaccatgcca agtttcttgg agtcacagag ctctcagcat attgcgaagg ctactttctc
     3661 aaaaacatga tggtcctcat tgaaaacgaa gcattcaagc agctcctgta tgacaaaaat
     3721 ggtgaaggga ccggccagga tgtgctccag gacttacaga ggacgttggc catcagaatt
     3781 cagtccatcc acttgtcgtc ttccaaaggt tccgtggtat gaaacgccta gtgcagggaa
     3841 tgcttcccgg gaactttcca gttctcctgc cgcattggct ttacacaaac acagacaaat
     3901 tccacctggc acctgttttt ggctgggcca aggagctgcc tctactgctc ccacgtgttc
     3961 ctgttgaaaa acaaaggact ttccactggt ctgcagatca gatcagctgg gtccagagtt
     4021 taatgggcaa ctggacaacc aagttaaccc caattgaaag cacccctagg accattgaac
     4081 acccactgcc ggggaccact gtccagtgaa tggattgagg ccttttaaag gtcactcagg
     4141 ttccaggttg acagttggag gacttcaccg taccaaccct gaagagattg tattacacat
     4201 taaggacctt ggtagctgtg cttcagcaaa cgtcaaccat ggtagcaaat tggtgaggct
     4261 gtgaccaata atgaggaaat aatctggcaa atttttaggg gtgggaactt ttttaaatgt
     4321 tcatttaaaa aaaaacaaaa acagggcagt cttgtagttt aaaatatatt tctaaaagct
     4381 taacagttcg ttttcaacta aattgtgttt agggatctgt gtttgagatt tttctttatt
     4441 tctttttttt ttttaaatag taagtcacag gtccacactg tgtaaacatg catctgataa
     4501 gatactgctg atattctaaa caagttgaaa taatcttgcc ttagtgatca tgattacaca
     4561 aaagaggtgc actgccaata agtatctcta attcaatagt tgaaagcaac ctgcatgcta
     4621 atcgtggttt cggggtgaga ataaaacacc cccacataac atgcatttgc atgggcccga
     4681 acctgtgaaa tgttacgttt gtgcttcatt tttgccaagg taaaaatgtt ccatcatttc
     4741 tagctaaaac tccatttggt gaaaccaaca tatccatttc ttttcctagt tacggatgat
     4801 ttggggatgc ttttgcagaa atgtgttcat agatgatgct gaatggggga ggggggcagc
     4861 acgtcagaga atttactatt aatcccagag ttttctctgt attctcagaa gatgttaata
     4921 gtttgttact agccagagag tatgactatg ttagattatt tttaaagatg aaacatgtat
     4981 gataggatgg attctttctg tattctgaga gtgtacagta caggattatt ataatgaaag
     5041 tttatatcaa cagggtttcg ttggctctgc catatattat aagcaaaaga gattggtaaa
     5101 gtgccacagt attccagata acttttcagt tgcggccttt cttctcgttc tttaatttga
     5161 aacctagata catgcagtaa aaactaggag aatgactttt acccttgggg acagccaagt
     5221 tttgttgata aacctatttc ctagcatgcc ttcaggaagt tgtgccagac cctagattgt
     5281 gaaggaccca ctgttcttct gttgtacgag ctccctgaac cattgttcag aggaccaatg
     5341 tcacatcgct tcatgggcat ggcccatgga gcatctgggt gatatctgtc tacagtattg
     5401 gctcttctgc gaggctgata cacaaggcct ctcttccaca tgatcatttg caaacctccc
     5461 ccagccccta ccatccaatg tggaaggaaa acaagaactg cctgaagaag agtccaagct
     5521 acagatacac agcgtgtgca ttgcggctgt caccttcctc ctcccacttc tgtatcctca
     5581 gagatgctgc gtggatgttt ccttaacctc agctgacttc cctgtgaatg tctaatgcta
     5641 gttcagggcc tccaggcatt gatttgtaca gtggtaactc ccaatgaggc ttctgttatc
     5701 atttggtgtg ctttctctgt cattaaaaga aatgattttc ccaggc
//
LOCUS       NM_001018081            1632 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens killer cell immunoglobulin like receptor, two Ig
            domains and long cytoplasmic tail 5B (KIR2DL5B), mRNA.
ACCESSION   NM_001018081
VERSION     NM_001018081.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1632)
  AUTHORS   Lallogo TD, Djigma FW, Sorgho PA, Martinson JJ, Compaore TR, Traore
            L, Bado P, Bazie BVEJT, Amegnona LJ, Kagone TS, Ouedraogo RA,
            Ilboudo DP, Obiri-Yeboah D, Yonli AT and Simpore J.
  TITLE     KIR2DL5B and HLA DRB1*12 alleles seems to be associated with
            protection against HIV-1 in serodiscordant couples in Burkina Faso
  JOURNAL   J Med Virol 94 (9), 4425-4432 (2022)
   PUBMED   35501290
  REMARK    GeneRIF: KIR2DL5B and HLA DRB1*12 alleles seems to be associated
            with protection against HIV-1 in serodiscordant couples in Burkina
            Faso.
REFERENCE   2  (bases 1 to 1632)
  AUTHORS   Yeung DT, Tang C, Vidovic L, White DL, Branford S, Hughes TP and
            Yong AS.
  TITLE     KIR2DL5B genotype predicts outcomes in CML patients treated with
            response-directed sequential imatinib/nilotinib strategy
  JOURNAL   Blood 126 (25), 2720-2723 (2015)
   PUBMED   26500342
  REMARK    GeneRIF: We found the presence of KIR2DL5B to be associated with
            inferior transformation-free survival and event-free survival in
            patients with chronic phase-chronic myeloid leukemia
REFERENCE   3  (bases 1 to 1632)
  AUTHORS   Aranda-Romo S, Garcia-Sepulveda CA, Comas-Garcia A, Lovato-Salas F,
            Salgado-Bustamante M, Gomez-Gomez A and Noyola DE.
  TITLE     Killer-cell immunoglobulin-like receptors (KIR) in severe A (H1N1)
            2009 influenza infections
  JOURNAL   Immunogenetics 64 (9), 653-662 (2012)
   PUBMED   22652695
  REMARK    GeneRIF: indicate that killer-cell immunoglobulin-like receptors
            (KIRs)activator (KIR3DS1 and KIR2DS5) and inhibitory (KIR2DL5) genes
            are associated with severe pandemic influenza A (H1N1) 2009
            infections.
REFERENCE   4  (bases 1 to 1632)
  AUTHORS   Lu L, Jin SZ, Wang DM, Gao SQ and Deng ZH.
  TITLE     [Correlation of killer immunoglobulin-like receptor gene diversity
            with nasopharyngeal carcinoma in Chinese southern Han population]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 19 (3), 798-800 (2011)
   PUBMED   21729574
  REMARK    GeneRIF: KIR2DL3, KIR2DS5 and KIR2DL5B genes may be correlated with
            pathogenesis of nasopharyngeal carcinoma in the Chinese southern Han
            population.
REFERENCE   5  (bases 1 to 1632)
  AUTHORS   Pyo CW, Guethlein LA, Vu Q, Wang R, Abi-Rached L, Norman PJ, Marsh
            SG, Miller JS, Parham P and Geraghty DE.
  TITLE     Different patterns of evolution in the centromeric and telomeric
            regions of group A and B haplotypes of the human killer cell Ig-like
            receptor locus
  JOURNAL   PLoS One 5 (12), e15115 (2010)
   PUBMED   21206914
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1632)
  CONSRTM   International Human Genome Sequencing Consortium
  TITLE     Finishing the euchromatic sequence of the human genome
  JOURNAL   Nature 431 (7011), 931-945 (2004)
   PUBMED   15496913
REFERENCE   7  (bases 1 to 1632)
  AUTHORS   Gomez-Lozano N, Gardiner CM, Parham P and Vilches C.
  TITLE     Some human KIR haplotypes contain two KIR2DL5 genes: KIR2DL5A and
            KIR2DL5B
  JOURNAL   Immunogenetics 54 (5), 314-319 (2002)
   PUBMED   12185535
REFERENCE   8  (bases 1 to 1632)
  AUTHORS   Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon
            K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford
            A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K,
            Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C,
            Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann Y,
            Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough
            R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman
            R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D,
            Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray
            A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R,
            Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW,
            McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin
            KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL,
            Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ,
            Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning
            S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C,
            Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB,
            Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor
            SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A,
            Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki
            Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F,
            Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR,
            Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J,
            Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu
            J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW,
            Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M,
            Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki
            K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F,
            Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide
            M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R,
            Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P,
            Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley
            RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG,
            Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W,
            Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts
            P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A,
            Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G,
            Schultz J, Slater G, Smit AF, Stupka E, Szustakowki J, Thierry-Mieg
            D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf
            YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J,
            Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P,
            Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ and Szustakowki
            J.
  CONSRTM   International Human Genome Sequencing Consortium
  TITLE     Initial sequencing and analysis of the human genome
  JOURNAL   Nature 409 (6822), 860-921 (2001)
   PUBMED   11237011
  REMARK    Erratum:[Nature 2001 Aug 2;412(6846):565]
REFERENCE   9  (bases 1 to 1632)
  AUTHORS   Vilches C, Gardiner CM and Parham P.
  TITLE     Gene structure and promoter variation of expressed and nonexpressed
            variants of the KIR2DL5 gene
  JOURNAL   J Immunol 165 (11), 6416-6421 (2000)
   PUBMED   11086080
REFERENCE   10  (bases 1 to 1632)
  AUTHORS   Vilches C, Rajalingam R, Uhrberg M, Gardiner CM, Young NT and Parham
            P.
  TITLE     KIR2DL5, a novel killer-cell receptor with a D0-D2 configuration of
            Ig-like domains
  JOURNAL   J Immunol 164 (11), 5797-5804 (2000)
   PUBMED   10820258
COMMENT     ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on manual assertion, expression,
            longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            GU182343.1.
            On Feb 23, 2023 this sequence version replaced NM_001018081.1.
            Summary: Killer cell immunoglobulin-like receptors (KIRs) are
            transmembrane glycoproteins expressed by natural killer cells and
            subsets of T cells. The KIR genes are polymorphic and highly
            homologous and they are found in a cluster on chromosome 19q13.4
            within the 1 Mb leukocyte receptor complex (LRC). The gene content
            of the KIR gene cluster varies among haplotypes, although several
            'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1,
            KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of
            extracellular immunoglobulin domains (2D or 3D) and by whether they
            have a long (L) or short (S) cytoplasmic domain. KIR proteins with
            the long cytoplasmic domain transduce inhibitory signals upon
            ligand binding via an immune tyrosine-based inhibitory motif
            (ITIM), while KIR proteins with the short cytoplasmic domain lack
            the ITIM motif and instead associate with the TYRO protein tyrosine
            kinase binding protein to transduce activating signals. The ligands
            for several KIR proteins are subsets of HLA class I molecules;
            thus, KIR proteins are thought to play an important role in
            regulation of the immune response. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1632
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..1632
                     /gene="KIR2DL5B"
                     /gene_synonym="KIR2DL5; KIR2DL5.2; KIR2DLX"
                     /note="killer cell immunoglobulin like receptor, two Ig
                     domains and long cytoplasmic tail 5B"
                     /db_xref="GeneID:553128"
                     /db_xref="HGNC:HGNC:16346"
                     /db_xref="MIM:615727"
     CDS             1..1128
                     /gene="KIR2DL5B"
                     /gene_synonym="KIR2DL5; KIR2DL5.2; KIR2DLX"
                     /note="contains long cytoplasmic tail; killer cell
                     immunoglobulin-like receptor 2DL5B; CD158 antigen-like
                     family member F2; killer cell immunoglobulin-like receptor
                     2DLX; killer cell immunoglobulin-like receptor, two
                     domains, long cytoplasmic tail, 5B; killer-cell Ig-like
                     receptor; killer cell immunoglobulin-like receptor two
                     domains long cytoplasmic tail 5; killer Ig receptor"
                     /codon_start=1
                     /product="killer cell immunoglobulin-like receptor 2DL5B
                     precursor"
                     /protein_id="NP_001018091.2"
                     /db_xref="GeneID:553128"
                     /db_xref="HGNC:HGNC:16346"
                     /db_xref="MIM:615727"
                     /translation="MSLMVVSMACVGFFLLQGAWPHEGGQDKPLLSAWPSAVVPRGGHV
                     TLLCRSRLGFTIFSLYKEDGVPVPELYNKIFWKSILMGPVTPAHAGTYRCRGSHPRSPI
                     EWSAPSNPLVIVVTGLFGKPSLSAQPGPTVRTGENVTLSCSSRSSFDMYHLSREGRAHE
                     PRLPAVPSVNGTFQADFPLGPATHGGTYTCFGSLHDSPYEWSDPSDPLLVSVTGNSSSS
                     SSSPTEPSSKTGIRRHLHILIGTSVAIILFIILFFFLLHCCCSNKKNAAVMDQEPAGDR
                     TVNREDSDDQDPQEVTYAQLDHCVFTQTKITSPSQRPKTPPTDTTMYMELPNAKPRSLS
                     PAHKHHSQALRGSSRETTALSQNRVASSHVPAAGI"
     sig_peptide     1..63
                     /gene="KIR2DL5B"
                     /gene_synonym="KIR2DL5; KIR2DL5.2; KIR2DLX"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     64..1125
                     /gene="KIR2DL5B"
                     /gene_synonym="KIR2DL5; KIR2DL5.2; KIR2DLX"
                     /product="Killer cell immunoglobulin-like receptor 2DL5B.
                     /id=PRO_5000058328"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHK3.2)"
     misc_feature    637..699
                     /gene="KIR2DL5B"
                     /gene_synonym="KIR2DL5; KIR2DL5.2; KIR2DLX"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHK3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    652..654
                     /gene="KIR2DL5B"
                     /gene_synonym="KIR2DL5; KIR2DL5.2; KIR2DLX"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NHK3.2); glycosylation site"
     misc_feature    715..777
                     /gene="KIR2DL5B"
                     /gene_synonym="KIR2DL5; KIR2DL5.2; KIR2DLX"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHK3.2);
                     transmembrane region"
     misc_feature    1000..1125
                     /gene="KIR2DL5B"
                     /gene_synonym="KIR2DL5; KIR2DL5.2; KIR2DLX"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NHK3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 atgtcgctca tggtcgtcag catggcgtgt gttgggttct tcttgctgca gggggcctgg
       61 ccacatgagg gtggtcagga caagcccttg ctgtctgcct ggcccagcgc tgtggtgcct
      121 cgaggaggac atgtgactct tctgtgtcgc tctcgtcttg ggtttaccat cttcagtctg
      181 tacaaagaag atggggtgcc tgtccctgag ctctacaaca aaatattctg gaagagcatc
      241 ctcatgggcc ctgtgacccc tgcacacgca gggacctaca gatgtcgggg ttcacaccca
      301 cgctccccca ttgagtggtc agcacccagc aaccccctgg tgatcgtggt cacaggtcta
      361 tttgggaaac cttcactctc agcccagccg ggccccacgg ttcgcacagg agagaacgtg
      421 accttgtcct gcagctccag gagctcattt gacatgtacc atctatccag ggaggggagg
      481 gcccatgaac ctaggctccc tgcagtgccc agcgtcaatg gaacattcca ggctgacttt
      541 cctctgggcc ctgccaccca cggagggacc tacacatgct tcggctctct ccatgactca
      601 ccctatgagt ggtcagaccc gagtgaccca ctgcttgttt ctgtcacagg aaactcttca
      661 agtagttcat cttcacccac tgaaccaagc tccaaaactg gtatccgcag acacctgcac
      721 attctgattg ggacctcagt ggctatcatc ctcttcatca tcctcttctt ctttctcctt
      781 cattgctgct gctccaacaa aaagaatgct gctgtaatgg accaagagcc tgccggggac
      841 agaacagtga acagggagga ctctgatgat caagaccctc aggaggtgac atatgcacag
      901 ttggatcact gcgttttcac acagacaaaa atcacttccc cttctcagag gcccaagaca
      961 cctccaacag ataccaccat gtacatggaa cttccaaatg ctaagccaag atcattgtct
     1021 cctgcccata agcaccacag tcaggccttg aggggatctt ctagggagac aacagccctg
     1081 tctcaaaacc gggttgctag ctcccatgta ccagcagctg gaatctgaag gcatcagtct
     1141 tcatcttagg ggatcgctct tcctcacacc acaaatctga acatgcctct ctcttgctta
     1201 caaatgtcta aggtccccac tgcctgctgg agagaagaca cactcctttg cttagcccac
     1261 aattctctat ttcacttgac ccctgcccac ctctccaact gaactggctt acttcctagt
     1321 ctacttgagg ctgcaatcac actgaggaac tcacaattcc agacatacaa gaggctccct
     1381 cttaacatgg cactgagaca cgtgctgttc caccttccct catgctgttt cacctttcct
     1441 cagactattt tccagccttc tgtcagtcag cagtgaaact tataaaattt tttgtgattt
     1501 caatgtagct gtctcctttt caaataaaca tgtctgccct cattgcttta ggtaatgtga
     1561 cactattcgc tgaaagaaac cgctgttatc attaccatgt ccacataacc ccatctgtta
     1621 tccactgggt tc
//
LOCUS       NM_001018100            2398 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens myocardial zonula adherens protein (MYZAP), transcript
            variant 1, mRNA.
ACCESSION   NM_001018100
VERSION     NM_001018100.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2398)
  AUTHORS   Pieperhoff S, Rickelt S, Heid H, Claycomb WC, Zimbelmann R, Kuhn C,
            Winter-Simanowski S, Kuhn C, Frey N and Franke WW.
  TITLE     The plaque protein myozap identified as a novel major component of
            adhering junctions in endothelia of the blood and the lymph vascular
            systems
  JOURNAL   J Cell Mol Med 16 (8), 1709-1719 (2012)
   PUBMED   21992629
REFERENCE   2  (bases 1 to 2398)
  AUTHORS   Rickelt S, Kuhn C, Winter-Simanowski S, Zimbelmann R, Frey N and
            Franke WW.
  TITLE     Protein myozap--a late addition to the molecular ensembles of
            various kinds of adherens junctions
  JOURNAL   Cell Tissue Res 346 (3), 347-359 (2011)
   PUBMED   22160502
REFERENCE   3  (bases 1 to 2398)
  AUTHORS   Huo L, Wen W, Wang R, Kam C, Xia J, Feng W and Zhang M.
  TITLE     Cdc42-dependent formation of the ZO-1/MRCKbeta complex at the
            leading edge controls cell migration
  JOURNAL   EMBO J 30 (4), 665-678 (2011)
   PUBMED   21240187
REFERENCE   4  (bases 1 to 2398)
  AUTHORS   Garcia-Mayoral MF, Martinez-Moreno M, Albar JP, Rodriguez-Crespo I
            and Bruix M.
  TITLE     Structural basis for the interaction between dynein light chain 1
            and the glutamate channel homolog GRINL1A
  JOURNAL   FEBS J 277 (10), 2340-2350 (2010)
   PUBMED   20412299
REFERENCE   5  (bases 1 to 2398)
  AUTHORS   Seeger TS, Frank D, Rohr C, Will R, Just S, Grund C, Lyon R, Luedde
            M, Koegl M, Sheikh F, Rottbauer W, Franke WW, Katus HA, Olson EN and
            Frey N.
  TITLE     Myozap, a novel intercalated disc protein, activates serum response
            factor-dependent signaling and is required to maintain cardiac
            function in vivo
  JOURNAL   Circ Res 106 (5), 880-890 (2010)
   PUBMED   20093627
REFERENCE   6  (bases 1 to 2398)
  AUTHORS   Roginski RS, Goubaeva F, Mikami M, Fried-Cassorla E, Nair MR and
            Yang J.
  TITLE     GRINL1A colocalizes with N-methyl D-aspartate receptor NR1 subunit
            and reduces N-methyl D-aspartate toxicity
  JOURNAL   Neuroreport 19 (17), 1721-1726 (2008)
   PUBMED   18849881
REFERENCE   7  (bases 1 to 2398)
  AUTHORS   Roginski RS, Mohan Raj BK, Birditt B and Rowen L.
  TITLE     The human GRINL1A gene defines a complex transcription unit, an
            unusual form of gene organization in eukaryotes
  JOURNAL   Genomics 84 (2), 265-276 (2004)
   PUBMED   15233991
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.30813.1,
            SRR3476690.980702.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000267853.10/ ENSP00000267853.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025271.7, AC090651.3 and
            KF456061.1.
            On Nov 22, 2018 this sequence version replaced NM_001018100.4.
            Summary: This gene encodes a protein that is abundantly expressed
            in cardiac tissue. The encoded protein localizes to intercalated
            discs in cardiomyocytes and functions as an activator of
            Rho-dependent serum-response factor signaling. Alternative splicing
            results in multiple transcript variants. Readthrough transcription
            also exists between this gene and the neighboring downstream gene
            POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is
            represented with GeneID: 145781. [provided by RefSeq, Mar 2014].
            Transcript Variant: This variant (1, also known as Gup1) represents
            the longer transcript and encodes the longer isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2398
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3"
     gene            1..2398
                     /gene="MYZAP"
                     /gene_synonym="GCOM1; Gup; MYOZAP"
                     /note="myocardial zonula adherens protein"
                     /db_xref="GeneID:100820829"
                     /db_xref="HGNC:HGNC:43444"
                     /db_xref="MIM:614071"
     misc_feature    27..29
                     /gene="MYZAP"
                     /gene_synonym="GCOM1; Gup; MYOZAP"
                     /note="upstream in-frame stop codon"
     CDS             132..1532
                     /gene="MYZAP"
                     /gene_synonym="GCOM1; Gup; MYOZAP"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; myocardium-enriched zonula adherens protein; GRINL1A
                     upstream protein; myocardial intercalated disc protein;
                     myocardium-enriched zonula occludens-1-associated protein;
                     myocardium-enriched ZO1-associated protein; GRINL1A complex
                     locus upstream"
                     /codon_start=1
                     /product="myocardial zonula adherens protein isoform 1
                     precursor"
                     /protein_id="NP_001018110.1"
                     /db_xref="CCDS:CCDS10162.1"
                     /db_xref="GeneID:100820829"
                     /db_xref="HGNC:HGNC:43444"
                     /db_xref="MIM:614071"
                     /translation="MLRSTSTVTLLSGGAARTPGAPSRRANVCRLRLTVPPESPVPEQC
                     EKKIERKEQLLDLSNGEPTRKLPQGVVYGVVRRSDQNQQKEMVVYGWSTSQLKEEMNYI
                     KDVRATLEKVRKRMYGDYDEMRQKIRQLTQELSVSHAQQEYLENHIQTQSSALDRFNAM
                     NSALASDSIGLQKTLVDVTLENSNIKDQIRNLQQTYEASMDKLREKQRQLEVAQVENQL
                     LKMKVESSQEANAEVMREMTKKLYSQYEEKLQEEQRKHSAEKEALLEETNSFLKAIEEA
                     NKKMQAAEISLEEKDQRIGELDRLIERMEKERHQLQLQLLEHETEMSGELTDSDKERYQ
                     QLEEASASLRERIRHLDDMVHCQQKKVKQMVEEIESLKKKLQQKQLLILQLLEKISFLE
                     GENNELQSRLDYLTETQAKTEVETREIGVGCDLLPSQTGRTREIVMPSRNYTPYTRVLE
                     LTMKKTLT"
     misc_feature    132..200
                     /gene="MYZAP"
                     /gene_synonym="GCOM1; Gup; MYOZAP"
                     /note="propagated from UniProtKB/Swiss-Prot (P0CAP1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     sig_peptide     132..191
                     /gene="MYZAP"
                     /gene_synonym="GCOM1; Gup; MYOZAP"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P0CAP1.1)"
     mat_peptide     192..1529
                     /gene="MYZAP"
                     /gene_synonym="GCOM1; Gup; MYOZAP"
                     /product="Myocardial zonula adherens protein.
                     /id=PRO_0000376013"
                     /note="propagated from UniProtKB/Swiss-Prot (P0CAP1.1)"
     misc_feature    1401..1406
                     /gene="MYZAP"
                     /gene_synonym="GCOM1; Gup; MYOZAP"
                     /note="propagated from UniProtKB/Swiss-Prot (P0CAP1.1);
                     Region: Required for DYNLL1-binding"
     regulatory      2370..2375
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYZAP"
                     /gene_synonym="GCOM1; Gup; MYOZAP"
                     /note="hexamer: AATAAA"
     polyA_site      2398
                     /gene="MYZAP"
                     /gene_synonym="GCOM1; Gup; MYOZAP"
                     /note="major polyA site"
ORIGIN
        1 cttcgcggtg cagctgaggc tgcaagtagc cggcgccgtc ccgcgtcgcc cccgcgcagg
       61 gcgggccccg cacgcttatt ctgcccggga ggaacgccgg cgtccagccc gctaccgacc
      121 gccgctgcgg gatgctgcgc tccacgtcca cggtcaccct gctctcgggc ggcgccgcca
      181 ggacgcccgg ggcgcccagc aggagggcaa atgtttgcag actacggctg accgtacctc
      241 ctgagagtcc agttcctgag caatgtgaaa agaagattga gagaaaagag cagcttcttg
      301 acctgagcaa tggagaacct accaggaaac ttcctcaggg tgttgtttat ggtgtggtgc
      361 gaagatcaga tcaaaatcag cagaaagaaa tggtggtgta tgggtggtcc accagtcagc
      421 tgaaagaaga gatgaactac atcaaagatg tgagagccac tttggaaaag gtgagaaagc
      481 gaatgtatgg agactatgat gagatgagac agaagattcg acagctcacc caggaactat
      541 cagtttccca tgctcagcag gagtatctgg agaatcacat ccaaacccag tcgtctgccc
      601 tggatcgttt taatgccatg aactcagcct tggcatcaga ttccattggc ctgcagaaaa
      661 ccctcgtgga tgtgactttg gaaaacagca acattaagga tcaaatcaga aatctgcagc
      721 agacgtatga agcatccatg gacaagctga gggaaaagca gaggcagttg gaggtagcgc
      781 aagttgaaaa ccagctgcta aaaatgaagg tggaatcgtc ccaagaagcc aatgctgagg
      841 tgatgcgaga gatgaccaag aagctgtaca gccagtatga ggagaagctg caggaagaac
      901 agaggaagca cagtgctgag aaggaggctc ttttggaaga aaccaatagt tttctgaaag
      961 cgattgaaga agccaataaa aagatgcaag cagcagagat cagcctagag gagaaagacc
     1021 agaggatcgg ggagctggac aggctgattg agcgcatgga aaaggaacgt catcaactgc
     1081 aacttcaact cctagaacat gaaacagaaa tgtctgggga gttaactgat tctgacaagg
     1141 aaaggtatca gcagttggag gaggcatcag ccagcctccg tgagcggatc agacacctag
     1201 atgacatggt gcattgccag cagaagaaag tcaagcagat ggtcgaggag attgaatcat
     1261 taaagaaaaa gttgcaacag aaacagctct taatactgca gcttttagaa aagatatctt
     1321 tcttagaagg agagaataat gaactacaaa gcaggttgga ctatttaaca gaaacccagg
     1381 ccaagaccga agtggaaacc agagagatag gagtgggctg tgatcttcta cccagccaaa
     1441 caggcaggac tcgtgaaatt gtgatgcctt ctaggaacta caccccatac acaagagtcc
     1501 tggagttaac catgaagaaa actctgactt aggcactcag aggcatacac tttttacaga
     1561 tggacaaaag ctctggaacc ctgtggcttc aaatcctttg ggaagggtga ctgttgtttc
     1621 ccctacacac agtgtaagcc ggaatgggaa tcgctgaggc tctgatccac ttctaagaca
     1681 ggaaggaaag tgaaggcaga gtgagcaggt aagagaggga tatacaaggt cacatttcag
     1741 acacccactc ggcataccct gccgtactgc atcatcattt gttttctttg tagacactga
     1801 aatcctatca ggaggattcc ttcacaatgt attttatttg ctagactttg gttgggaggg
     1861 aaaaggacat taatttgaag tttcatgtta ttcatgccag gattgtttga tagagcatga
     1921 aggttttgtt tacccataaa agtattagag gcagcgtttc tctgatacag agaggcctgt
     1981 ccacaagaag catgggcacc cagccaaact tgaacctgga agggagggtt cccggcctgc
     2041 aggtgctctt tcctcttggt cccaagcatc tgtgcagggt cgtgggagcc acactgagag
     2101 acttgtgtgg gccagacaag cttcattctg atgcgctagt cccttggttt aatttgtgcc
     2161 ttatgctttc attggaccag ctgaaatcac tgtatttatt caactagtga tttttttttc
     2221 tttctcactt taacttaaag agaattttat atgtcttgga aatttaataa tttagtgttc
     2281 tcagtatcaa ttggtgtttt tgttaaacga atgaatcatc tgttcatgca tgctctactt
     2341 tgatattata acctatgtca catgtgttta ataaatacca tatattttgt tctactaa
//
LOCUS       NM_001018108            2543 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens small EDRK-rich factor 2 (SERF2), transcript variant 3,
            mRNA.
ACCESSION   NM_001018108
VERSION     NM_001018108.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2543)
  AUTHORS   Pras A, Houben B, Aprile FA, Seinstra R, Gallardo R, Janssen L,
            Hogewerf W, Gallrein C, De Vleeschouwer M, Mata-Cabana A, Koopman M,
            Stroo E, de Vries M, Louise Edwards S, Kirstein J, Vendruscolo M,
            Falsone SF, Rousseau F, Schymkowitz J and Nollen EAA.
  TITLE     The cellular modifier MOAG-4/SERF drives amyloid formation through
            charge complementation
  JOURNAL   EMBO J 40 (21), e107568 (2021)
   PUBMED   34617299
  REMARK    GeneRIF: The cellular modifier MOAG-4/SERF drives amyloid formation
            through charge complementation.
REFERENCE   2  (bases 1 to 2543)
  AUTHORS   Balasubramaniam M, Ayyadevara S and Shmookler Reis RJ.
  TITLE     Structural insights into pro-aggregation effects of C. elegans
            CRAM-1 and its human ortholog SERF2
  JOURNAL   Sci Rep 8 (1), 14891 (2018)
   PUBMED   30291272
  REMARK    GeneRIF: Atomistic molecular-dynamic simulations predict spontaneous
            unfolding of SERF2, and computational large-scale protein-protein
            interactions predict its stable binding to ubiquitins. SERF2 is also
            predicted to bind to most proteins screened at random, although with
            lower average stability than to ubiquitins, suggesting roles in
            aggregation initiation and/or progression. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 2543)
  AUTHORS   van Ham TJ, Holmberg MA, van der Goot AT, Teuling E,
            Garcia-Arencibia M, Kim HE, Du D, Thijssen KL, Wiersma M, Burggraaff
            R, van Bergeijk P, van Rheenen J, Jerre van Veluw G, Hofstra RM,
            Rubinsztein DC and Nollen EA.
  TITLE     Identification of MOAG-4/SERF as a regulator of age-related
            proteotoxicity
  JOURNAL   Cell 142 (4), 601-612 (2010)
   PUBMED   20723760
  REMARK    GeneRIF: The human orthologs of MOAG-4, SERF2 and SERF1A, are
            ubiquitously expressed, consistent with a role in a general cellular
            pathway.
REFERENCE   4  (bases 1 to 2543)
  AUTHORS   Wen T, Bao K and Li H.
  TITLE     Blocking BE301622 gene expression by RNAi initiates differentiation
            of neural stem cells in rat
  JOURNAL   Cell Biochem Funct 25 (6), 775-779 (2007)
   PUBMED   16927404
REFERENCE   5  (bases 1 to 2543)
  AUTHORS   Washietl S, Pedersen JS, Korbel JO, Stocsits C, Gruber AR,
            Hackermuller J, Hertel J, Lindemeyer M, Reiche K, Tanzer A, Ucla C,
            Wyss C, Antonarakis SE, Denoeud F, Lagarde J, Drenkow J, Kapranov P,
            Gingeras TR, Guigo R, Snyder M, Gerstein MB, Reymond A, Hofacker IL
            and Stadler PF.
  TITLE     Structured RNAs in the ENCODE selected regions of the human genome
  JOURNAL   Genome Res 17 (6), 852-864 (2007)
   PUBMED   17568003
REFERENCE   6  (bases 1 to 2543)
  AUTHORS   Kim SC, Sprung R, Chen Y, Xu Y, Ball H, Pei J, Cheng T, Kho Y, Xiao
            H, Xiao L, Grishin NV, White M, Yang XJ and Zhao Y.
  TITLE     Substrate and functional diversity of lysine acetylation revealed by
            a proteomics survey
  JOURNAL   Mol Cell 23 (4), 607-618 (2006)
   PUBMED   16916647
REFERENCE   7  (bases 1 to 2543)
  AUTHORS   Scharf JM, Endrizzi MG, Wetter A, Huang S, Thompson TG, Zerres K,
            Dietrich WF, Wirth B and Kunkel LM.
  TITLE     Identification of a candidate modifying gene for spinal muscular
            atrophy by comparative genomics
  JOURNAL   Nat Genet 20 (1), 83-86 (1998)
   PUBMED   9731538
REFERENCE   8  (bases 1 to 2543)
  AUTHORS   Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF and MacDonald
            ME.
  TITLE     Huntingtin interacts with a family of WW domain proteins
  JOURNAL   Hum Mol Genet 7 (9), 1463-1474 (1998)
   PUBMED   9700202
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.105912.1,
            SRR1803615.193126.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000249786.9/ ENSP00000249786.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC008214.1, AC018512.6 and BM970646.1.
            On Jun 2, 2019 this sequence version replaced NM_001018108.3.
            Transcript Variant: This variant (3) differs in the 5' UTR, and
            uses an alternate splice site that causes a frameshift in the 3'
            coding region, compared to variant 1. The encoded isoform (c) has a
            distinct and shorter C-terminus, compared to isoform a. Both
            variants 3 and 4 encode isoform c.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2543
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.3"
     gene            1..2543
                     /gene="SERF2"
                     /gene_synonym="4F5REL; FAM2C; H4F5REL; HsT17089"
                     /note="small EDRK-rich factor 2"
                     /db_xref="GeneID:10169"
                     /db_xref="HGNC:HGNC:10757"
                     /db_xref="MIM:605054"
     misc_feature    25..27
                     /gene="SERF2"
                     /gene_synonym="4F5REL; FAM2C; H4F5REL; HsT17089"
                     /note="upstream in-frame stop codon"
     CDS             58..237
                     /gene="SERF2"
                     /gene_synonym="4F5REL; FAM2C; H4F5REL; HsT17089"
                     /note="isoform c is encoded by transcript variant 3;
                     protein 4F5-related; gastric cancer-related protein VRG107"
                     /codon_start=1
                     /product="small EDRK-rich factor 2 isoform c"
                     /protein_id="NP_001018118.1"
                     /db_xref="CCDS:CCDS32218.1"
                     /db_xref="GeneID:10169"
                     /db_xref="HGNC:HGNC:10757"
                     /db_xref="MIM:605054"
                     /translation="MTRGNQRELARQKNMKKQSDSVKGKRRDDGLSAAARKQRDSEIMQ
                     QKQKKANEKKEEPK"
     misc_feature    58..234
                     /gene="SERF2"
                     /gene_synonym="4F5REL; FAM2C; H4F5REL; HsT17089"
                     /note="propagated from UniProtKB/Swiss-Prot (P84101.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      489..494
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERF2"
                     /gene_synonym="4F5REL; FAM2C; H4F5REL; HsT17089"
                     /note="hexamer: ATTAAA"
     polyA_site      511
                     /gene="SERF2"
                     /gene_synonym="4F5REL; FAM2C; H4F5REL; HsT17089"
                     /note="major polyA site"
     regulatory      989..994
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERF2"
                     /gene_synonym="4F5REL; FAM2C; H4F5REL; HsT17089"
                     /note="hexamer: ATTAAA"
     polyA_site      1026
                     /gene="SERF2"
                     /gene_synonym="4F5REL; FAM2C; H4F5REL; HsT17089"
     regulatory      2445..2450
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERF2"
                     /gene_synonym="4F5REL; FAM2C; H4F5REL; HsT17089"
                     /note="hexamer: ATTAAA"
     polyA_site      2468
                     /gene="SERF2"
                     /gene_synonym="4F5REL; FAM2C; H4F5REL; HsT17089"
     regulatory      2503..2508
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERF2"
                     /gene_synonym="4F5REL; FAM2C; H4F5REL; HsT17089"
                     /note="hexamer: AATAAA"
     polyA_site      2543
                     /gene="SERF2"
                     /gene_synonym="4F5REL; FAM2C; H4F5REL; HsT17089"
ORIGIN
        1 aacgtccgac agaacgaggg gacgtaacgg aggcaggttg gagccgctgc cgtcgccatg
       61 acccgcggta accagcgtga gctcgcccgc cagaagaata tgaaaaagca gagcgactcg
      121 gttaagggaa agcgccgaga tgacgggctt tctgctgccg cccgcaagca gagggactcg
      181 gagatcatgc agcagaagca gaaaaaggca aacgagaaga aggaggaacc caagtagctt
      241 tgtggcttcg tgtccaaccc tcttgccctt cgcctgtgtg cctggagcca gtcccaccac
      301 gctcgcgttt cctcctgtag tgctcacagg tcccagcacc gatggcattc cctttgccct
      361 gagtctgcag cgggtccctt ttgtgcttcc ttcccctcag gtagcctctc tccccctggg
      421 ccactcccgg gggtgagggg gttacccctt cccagtgttt tttattcctg tggggctcac
      481 cccaaagtat taaaagtagc tttgtaattc cttgagcgcc tggtttgact ggggacttgg
      541 ggggatgggg ttggaagaat gactgccctt tcccaccaaa aaagggagaa ctctttagat
      601 tcagattgtg ggtatgtaga cttaataagt gaaacatcac agaagaagcc tttattatac
      661 aatgacaacc aaacaagtac tccggatatg cagtagagga atcctctaag aaccatagag
      721 acttcttttc tgtgattttt gttccccacc cttgaacacc atctctagga tggagttggc
      781 ctaagagtga atgctgcaag atctgtgttt atgcctcttt tcctcattct tcctcagttt
      841 gttcgtctgc ttgaaagttg gccaaaaaat cctgctgctc accgacttcc cgtggtcagc
      901 tgctgtcaag cgttcacttt ctcttctgtc attcctcatg gaatgagggt ggttttgtct
      961 tcccgcttcc cttgacctca aaatcaggat taaaacctgg ggtagcctct gtgctccttt
     1021 cttctatgcc ctggtttgtt ctgtggttct gggcttctta tatccgtgtg cccagggctg
     1081 aactccttat tttcctttct ccaagggcag agccgagtct tcagtccctg ttggtctttc
     1141 cccaccccca cttccagccc aagagccagg aaagggctgg tgccacactg tctgctggga
     1201 tcagcggtgg ttctttgagc tgctgatttg ggtgttaggc tcttgagctg ggatgcagat
     1261 gtaacagtag ctccagtgag tcagacactc tgcccagcac attagactgt gtttgaccac
     1321 ttcttccagt tcatagtatt gacttcagcc caaacggaga taactccctg tgtgtccttg
     1381 aggtattgag ctgggctgga cagctcccct tgagccaact ctaggagtac aatgtcaggg
     1441 gaaccccagt ttgtgaaaag gacttagact ggaggatatt tgttatctgg ggatatgatg
     1501 cggtggcggc ggcgcctcaa gataaggggc tggggtttct gggtgggggg ccaacagagt
     1561 ggtgccagta acagccccag atagaggagt acgcaggccc agcatgaggc aaccttgacc
     1621 cagaaggtgg cccagctacc cttgatgaag gtcttttcca gttctgctcc ctcatagctg
     1681 tgtaaccaaa ggctctggtt agagaatatg aagggcctta gcttttagac ctgttctacc
     1741 tcctcaccaa atataatggc agacccatgt gtgtctggaa tggccttgaa ttgctctttc
     1801 cttaaaatag ctagctcttc aggagagtat ctaaggccca ctccatctta cctgaaccag
     1861 ttggtaaggg taaccatgac atagagtgag gcaaggaaga agacgaagtg gaaggcagaa
     1921 tagttgtagg aaagatgctg gacttggact ggaggagctg gaggggtttc ttggtcagct
     1981 ggcctcgcag ccccacccct ttgccctgga gagaggaaat ggctgctggg agcagagctg
     2041 ctgaaacacc tcttcccctc tcccccaact acctttgtta aggctcttga gggttcttat
     2101 ggcactccac agagatctac cacttcttat ggttcctcac ttggcactca cctttgtctg
     2161 cctccactgt ttcagggcag cagaaacaca gtgagggctt ctgcaaaaca gaacgcaggt
     2221 tttggaatgg tcttaaaaga tgtgagggtg ttaatctagg aaacttcccc cgtgaaaaga
     2281 ttggtctagt attaaaaagt ggaggcacac ctgggttcaa attctagctc cagcatataa
     2341 gtggctgtgc agactttggt aagatgttta atcttttgtg cctcgatttc tccatttgta
     2401 aaatggagca aatacctacc tcacagggtt gttgtgaggg ttaaattaaa tgagattatg
     2461 taaaagtatc tagcacagtt gcctagcaca ttgtgggtac tcaataaaag gtaacagcag
     2521 ctataatctg agcattctgg gta
//
LOCUS       NM_001018109            1274 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens pirin (PIR), transcript variant 2, mRNA.
ACCESSION   NM_001018109
VERSION     NM_001018109.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1274)
  AUTHORS   Xie J, Xing S, Shen BY, Chen HT, Sun B, Wang ZT, Wang JW and Lu XX.
  TITLE     PIWIL1 interacting RNA piR-017061 inhibits pancreatic cancer growth
            via regulating EFNA5
  JOURNAL   Hum Cell 34 (2), 550-563 (2021)
   PUBMED   33389678
  REMARK    GeneRIF: PIWIL1 interacting RNA piR-017061 inhibits pancreatic
            cancer growth via regulating EFNA5.
REFERENCE   2  (bases 1 to 1274)
  AUTHORS   Hu N, Bai L, Dai E, Han L, Kang R, Li H and Tang D.
  TITLE     Pirin is a nuclear redox-sensitive modulator of autophagy-dependent
            ferroptosis
  JOURNAL   Biochem Biophys Res Commun 536, 100-106 (2021)
   PUBMED   33373853
  REMARK    GeneRIF: Pirin is a nuclear redox-sensitive modulator of
            autophagy-dependent ferroptosis.
REFERENCE   3  (bases 1 to 1274)
  AUTHORS   Suleman M, Chen A, Ma H, Wen S, Zhao W, Lin D, Wu G and Li Q.
  TITLE     PIR promotes tumorigenesis of breast cancer by upregulating cell
            cycle activator E2F1
  JOURNAL   Cell Cycle 18 (21), 2914-2927 (2019)
   PUBMED   31500513
  REMARK    GeneRIF: PIR promotes tumorigenesis of breast cancer by upregulating
            cell cycle activator E2F1.
REFERENCE   4  (bases 1 to 1274)
  AUTHORS   Arai T, Kojima S, Yamada Y, Sugawara S, Kato M, Yamazaki K, Naya Y,
            Ichikawa T and Seki N.
  TITLE     Pirin: a potential novel therapeutic target for castration-resistant
            prostate cancer regulated by miR-455-5p
  JOURNAL   Mol Oncol 13 (2), 322-337 (2019)
   PUBMED   30444038
  REMARK    GeneRIF: miR-455-5p/PIR axis contributed to cancer cell
            aggressiveness.
REFERENCE   5  (bases 1 to 1274)
  AUTHORS   Adeniran C and Hamelberg D.
  TITLE     Redox-Specific Allosteric Modulation of the Conformational Dynamics
            of kappaB DNA by Pirin in the NF-kappaB Supramolecular Complex
  JOURNAL   Biochemistry 56 (37), 5002-5010 (2017)
   PUBMED   28825294
  REMARK    GeneRIF: Data suggest that only the Fe(III) form of pirin [not the
            Fe(II) form] enhances affinity of binding between p65 and DNA in the
            pirin-p65-DNA supramolecular complex. (pirin = quercetin
            2,3-dioxygenase; p65 = RELA proto-oncogene NF-kappaB subunit)
REFERENCE   6  (bases 1 to 1274)
  AUTHORS   Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A,
            Meil A, Wojcik J, Legrain P and Gauthier JM.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   7  (bases 1 to 1274)
  AUTHORS   Pang H, Bartlam M, Zeng Q, Miyatake H, Hisano T, Miki K, Wong LL,
            Gao GF and Rao Z.
  TITLE     Crystal structure of human pirin: an iron-binding nuclear protein
            and transcription cofactor
  JOURNAL   J Biol Chem 279 (2), 1491-1498 (2004)
   PUBMED   14573596
  REMARK    GeneRIF: x-ray crystallography of of human pirin shows that it is an
            iron-binding nuclear protein and transcription cofactor
REFERENCE   8  (bases 1 to 1274)
  AUTHORS   Zeng Q, Li X, Bartlam M, Wang G, Pang H and Rao Z.
  TITLE     Purification, crystallization and preliminary X-ray analysis of
            human pirin
  JOURNAL   Acta Crystallogr D Biol Crystallogr 59 (Pt 8), 1496-1498 (2003)
   PUBMED   12876364
REFERENCE   9  (bases 1 to 1274)
  AUTHORS   Dechend R, Hirano F, Lehmann K, Heissmeyer V, Ansieau S, Wulczyn FG,
            Scheidereit C and Leutz A.
  TITLE     The Bcl-3 oncoprotein acts as a bridging factor between
            NF-kappaB/Rel and nuclear co-regulators
  JOURNAL   Oncogene 18 (22), 3316-3323 (1999)
   PUBMED   10362352
REFERENCE   10  (bases 1 to 1274)
  AUTHORS   Wendler WM, Kremmer E, Forster R and Winnacker EL.
  TITLE     Identification of pirin, a novel highly conserved nuclear protein
  JOURNAL   J Biol Chem 272 (13), 8482-8489 (1997)
   PUBMED   9079676
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: Y07867.1, SRR1803614.105885.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380420.10/ ENSP00000369785.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA686501.1, AC097625.11 and
            BC002517.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001018109.2.
            Summary: This gene encodes a member of the cupin superfamily. The
            encoded protein is an Fe(II)-containing nuclear protein expressed
            in all tissues of the body and concentrated within dot-like
            subnuclear structures. Interactions with nuclear factor I/CCAAT box
            transcription factor as well as B cell lymphoma 3-encoded
            oncoprotein suggest the encoded protein may act as a
            transcriptional cofactor and be involved in the regulation of DNA
            transcription and replication. Alternatively spliced transcript
            variants have been described. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) uses an alternate, in-frame
            splice site in the 5' UTR, compared to variant 1. Variants 1 and 2
            encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1274
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..1274
                     /gene="PIR"
                     /note="pirin"
                     /db_xref="GeneID:8544"
                     /db_xref="HGNC:HGNC:30048"
                     /db_xref="MIM:300931"
     misc_feature    29..31
                     /gene="PIR"
                     /note="upstream in-frame stop codon"
     CDS             197..1069
                     /gene="PIR"
                     /EC_number="1.13.11.24"
                     /note="probable quercetinase; probable quercetin
                     2,3-dioxygenase PIR; pirin (iron-binding nuclear protein)"
                     /codon_start=1
                     /product="pirin"
                     /protein_id="NP_001018119.1"
                     /db_xref="CCDS:CCDS14167.1"
                     /db_xref="GeneID:8544"
                     /db_xref="HGNC:HGNC:30048"
                     /db_xref="MIM:300931"
                     /translation="MGSSKKVTLSVLSREQSEGVGARVRRSIGRPELKNLDPFLLFDEF
                     KGGRPGGFPDHPHRGFETVSYLLEGGSMAHEDFCGHTGKMNPGDLQWMTAGRGILHAEM
                     PCSEEPAHGLQLWVNLRSSEKMVEPQYQELKSEEIPKPSKDGVTVAVISGEALGIKSKV
                     YTRTPTLYLDFKLDPGAKHSQPIPKGWTSFIYTISGDVYIGPDDAQQKIEPHHTAVLGE
                     GDSVQVENKDPKRSHFVLIAGEPLREPVIQHGPFVMNTNEEISQAILDFRNAKNGFERA
                     KTWKSKIGN"
     regulatory      1246..1251
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIR"
                     /note="hexamer: AATAAA"
     polyA_site      1274
                     /gene="PIR"
                     /note="major polyA site"
ORIGIN
        1 ctcctctagg ccgccggccg cgaagcgctg agtcacggtg aggctactgg acccacactc
       61 tcttaacctg ccctccctgc actcgctccc ggcggctctt cgcgtcaccc ccgccgctaa
      121 ggctccaggt gccgctaccg cagcccctcc atcctctaca gctcagcatc agaacactct
      181 ctttttagac tccgatatgg ggtcctccaa gaaagttact ctctcagtgc tcagccggga
      241 gcagtcggaa ggggttggag cgagggtccg gagaagcatt ggcagacccg agttaaaaaa
      301 tctggatccg tttttactgt ttgatgaatt taaaggaggt agaccaggag gatttcctga
      361 tcatccacat cgaggttttg aaacagtatc ctacctcctg gaagggggca gcatggccca
      421 tgaagacttc tgtggacaca ctggtaaaat gaacccagga gatttgcagt ggatgactgc
      481 gggccggggc attctgcacg ctgagatgcc ttgctcagag gagccagccc atggcctaca
      541 actgtgggtt aatttgagga gctcagagaa gatggtggag cctcagtacc aggaactgaa
      601 aagtgaagaa atccctaaac ccagtaagga tggtgtgaca gttgctgtca tttctggaga
      661 agccctggga ataaagtcca aggtttacac tcgcacacca accttatatt tggacttcaa
      721 attggaccca ggagccaaac attcccaacc tatccctaaa gggtggacaa gcttcattta
      781 cacgatatct ggagatgtgt atattgggcc cgatgatgca caacaaaaaa tagaacctca
      841 tcacacagca gtgcttggag aaggtgacag tgtccaggtg gagaacaagg atcccaagag
      901 aagccacttt gtcttaattg ctggggagcc attaagagaa ccagttatcc aacatggtcc
      961 atttgtgatg aacaccaatg aagagatttc tcaagctatt cttgatttca gaaacgcaaa
     1021 aaatgggttt gaaagggcca aaacctggaa atcaaagatt gggaactagt ggaaagcgga
     1081 agagcaggtc ttgatgtgtc ctagaatttt gccatttctg agattgagcc attgaaggca
     1141 ttccatttct aaagcttatt tagccggtgc ttctaaagaa ttccacacta acgtgataac
     1201 atggtttttg taacaataaa tgtaggatat ttcctggcac atgcaaataa acctaatcat
     1261 tgtttcttta aaaa
//
LOCUS       NM_001018111            5986 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens podocalyxin like (PODXL), transcript variant 1, mRNA.
ACCESSION   NM_001018111
VERSION     NM_001018111.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5986)
  AUTHORS   Thach B, Samarajeewa N, Li Y, Heng S, Tsai T, Pangestu M, Catt S and
            Nie G.
  TITLE     Podocalyxin molecular characteristics and endometrial expression:
            high conservation between humans and macaques but divergence in
            micedagger
  JOURNAL   Biol Reprod 106 (6), 1143-1158 (2022)
   PUBMED   35284933
  REMARK    GeneRIF: Podocalyxin molecular characteristics and endometrial
            expression: high conservation between humans and macaques but
            divergence in micedagger.
REFERENCE   2  (bases 1 to 5986)
  AUTHORS   Heng S, Samarajeewa N, Wang Y, Paule SG, Breen J and Nie G.
  TITLE     Podocalyxin promotes an impermeable epithelium and inhibits
            pro-implantation factors to negatively regulate endometrial
            receptivity
  JOURNAL   Sci Rep 11 (1), 24016 (2021)
   PUBMED   34907278
  REMARK    GeneRIF: Podocalyxin promotes an impermeable epithelium and inhibits
            pro-implantation factors to negatively regulate endometrial
            receptivity. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5986)
  AUTHORS   Heng S, Samarajeewa N, Aberkane A, Essahib W, Van de Velde H,
            Scelwyn M, Hull ML, Vollenhoven B, Rombauts LJ and Nie G.
  TITLE     Podocalyxin inhibits human embryo implantation in vitro and luminal
            podocalyxin in putative receptive endometrium is associated with
            implantation failure in fertility treatment
  JOURNAL   Fertil Steril 116 (5), 1391-1401 (2021)
   PUBMED   34272065
  REMARK    GeneRIF: Podocalyxin inhibits human embryo implantation in vitro and
            luminal podocalyxin in putative receptive endometrium is associated
            with implantation failure in fertility treatment.
REFERENCE   4  (bases 1 to 5986)
  AUTHORS   Lee H, Kong JS, Lee SS and Kim A.
  TITLE     Radiation-Induced Overexpression of TGFbeta and PODXL Contributes to
            Colorectal Cancer Cell Radioresistance through Enhanced Motility
  JOURNAL   Cells 10 (8), 2087 (2021)
   PUBMED   34440856
  REMARK    GeneRIF: Radiation-Induced Overexpression of TGFbeta and PODXL
            Contributes to Colorectal Cancer Cell Radioresistance through
            Enhanced Motility. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5986)
  AUTHORS   Eurola A, Ristimaki A, Mustonen H, Nurmi AM, Hagstrom J, Haglund C
            and Seppanen H.
  TITLE     Impact of histological response after neoadjuvant therapy on
            podocalyxin as a prognostic marker in pancreatic cancer
  JOURNAL   Sci Rep 11 (1), 9896 (2021)
   PUBMED   33972616
  REMARK    GeneRIF: Impact of histological response after neoadjuvant therapy
            on podocalyxin as a prognostic marker in pancreatic cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5986)
  AUTHORS   Takeda T, McQuistan T, Orlando RA and Farquhar MG.
  TITLE     Loss of glomerular foot processes is associated with uncoupling of
            podocalyxin from the actin cytoskeleton
  JOURNAL   J Clin Invest 108 (2), 289-301 (2001)
   PUBMED   11457882
REFERENCE   7  (bases 1 to 5986)
  AUTHORS   Sassetti C, Tangemann K, Singer MS, Kershaw DB and Rosen SD.
  TITLE     Identification of podocalyxin-like protein as a high endothelial
            venule ligand for L-selectin: parallels to CD34
  JOURNAL   J Exp Med 187 (12), 1965-1975 (1998)
   PUBMED   9625756
REFERENCE   8  (bases 1 to 5986)
  AUTHORS   Kershaw DB, Wiggins JE, Wharram BL and Wiggins RC.
  TITLE     Assignment of the human podocalyxin-like protein (PODXL) gene to
            7q32-q33
  JOURNAL   Genomics 45 (1), 239-240 (1997)
   PUBMED   9339384
REFERENCE   9  (bases 1 to 5986)
  AUTHORS   Kershaw DB, Beck SG, Wharram BL, Wiggins JE, Goyal M, Thomas PE and
            Wiggins RC.
  TITLE     Molecular cloning and characterization of human podocalyxin-like
            protein. Orthologous relationship to rabbit PCLP1 and rat
            podocalyxin
  JOURNAL   J Biol Chem 272 (25), 15708-15714 (1997)
   PUBMED   9188463
REFERENCE   10  (bases 1 to 5986)
  AUTHORS   Cook Shukla,L., Schulze,J., Farlow,J., Pankratz,N.D., Wojcieszek,J.
            and Foroud,T.
  TITLE     Parkinson Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301402
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.140839.1,
            SRR1803615.185742.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378555.8/ ENSP00000367817.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008264.10, AK055816.1,
            AK223573.1, CN290641.1, BC042466.1 and BP355358.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001018111.2.
            Summary: This gene encodes a member of the sialomucin protein
            family. The encoded protein was originally identified as an
            important component of glomerular podocytes. Podocytes are highly
            differentiated epithelial cells with interdigitating foot processes
            covering the outer aspect of the glomerular basement membrane.
            Other biological activities of the encoded protein include: binding
            in a membrane protein complex with Na+/H+ exchanger regulatory
            factor to intracellular cytoskeletal elements, playing a role in
            hematopoetic cell differentiation, and being expressed in vascular
            endothelium cells and binding to L-selectin. [provided by RefSeq,
            Jul 2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5986
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.3"
     gene            1..5986
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="podocalyxin like"
                     /db_xref="GeneID:5420"
                     /db_xref="HGNC:HGNC:9171"
                     /db_xref="MIM:602632"
     CDS             270..1946
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; podocalyxin-like protein 1; GCTM-2 antigen"
                     /codon_start=1
                     /product="podocalyxin isoform 1 precursor"
                     /protein_id="NP_001018121.1"
                     /db_xref="CCDS:CCDS34755.1"
                     /db_xref="GeneID:5420"
                     /db_xref="HGNC:HGNC:9171"
                     /db_xref="MIM:602632"
                     /translation="MRCALALSALLLLLSTPPLLPSSPSPSPSPSQNATQTTTDSSNKT
                     APTPASSVTIMATDTAQQSTVPTSKANEILASVKATTLGVSSDSPGTTTLAQQVSGPVN
                     TTVARGGGSGNPTTTIESPKSTKSADTTTVATSTATAKPNTTSSQNGAEDTTNSGGKSS
                     HSVTTDLTSTKAEHLTTPHPTSPLSPRQPTSTHPVATPTSSGHDHLMKISSSSSTVAIP
                     GYTFTSPGMTTTLLETVFHHVSQAGLELLTSGDLPTLASQSAGITASSVISQRTQQTSS
                     QMPASSTAPSSQETVQPTSPATALRTPTLPETMSSSPTAASTTHRYPKTPSPTVAHESN
                     WAKCEDLETQTQSEKQLVLNLTGNTLCAGGASDEKLISLICRAVKATFNPAQDKCGIRL
                     ASVPGSQTVVVKEITIHTKLPAKDVYERLKDKWDELKEAGVSDMKLGDQGPPEEAEDRF
                     SMPLIITIVCMASFLLLVAALYGCCHQRLSQRKDQQRLTEELQTVENGYHDNPTLEVME
                     TSSEMQEKKVVSLNGELGDSWIVPLDNLTKDDLDEEEDTHL"
     sig_peptide     270..335
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
     misc_feature    327..419
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="propagated from UniProtKB/Swiss-Prot (O00592.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     336..1943
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /product="podocalyxin isoform 1"
     misc_feature    366..368
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00592.2); glycosylation site"
     misc_feature    396..398
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00592.2); glycosylation site"
     misc_feature    516..899
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="propagated from UniProtKB/Swiss-Prot (O00592.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    579..581
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00592.2); glycosylation site"
     misc_feature    699..701
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00592.2); glycosylation site"
     misc_feature    1077..1283
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="propagated from UniProtKB/Swiss-Prot (O00592.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1347..1349
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O00592.2); glycosylation site"
     misc_feature    1653..1715
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="propagated from UniProtKB/Swiss-Prot (O00592.2);
                     transmembrane region"
     misc_feature    1821..1823
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9R0M4; propagated from
                     UniProtKB/Swiss-Prot (O00592.2); phosphorylation site"
     misc_feature    1854..1856
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O00592.2); phosphorylation site"
     misc_feature    1878..1880
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O00592.2); phosphorylation site"
     misc_feature    1935..1937
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O00592.2); phosphorylation site"
     regulatory      5966..5971
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="hexamer: ATTAAA"
     polyA_site      5986
                     /gene="PODXL"
                     /gene_synonym="gp135; Gp200; PC; PCLP; PCLP-1; PDX; PODXL1"
                     /note="major polyA site"
ORIGIN
        1 agtggggccg cagccgcgca gacgccgccc aggacgcagc cgccgccgcc gccgctcctc
       61 tgccactggc tctgcgcccc agcccggctc tgctgcagcg gcagggagga agagccgccg
      121 cagcgcgact cgggagcccc gggccacagc ctggcctccg gagccaccca caggcctccc
      181 cgggcggcgc ccacgctcct accgcccgga cgcgcggatc ctccgccggc accgcagcca
      241 cctgctcccg gcccagaggc gacgacacga tgcgctgcgc gctggcgctc tcggcgctgc
      301 tgctactgtt gtcaacgccg ccgctgctgc cgtcgtcgcc gtcgccgtcg ccgtcgccct
      361 cccagaatgc aacccagact actacggact catctaacaa aacagcaccg actccagcat
      421 ccagtgtcac catcatggct acagatacag cccagcagag cacagtcccc acttccaagg
      481 ccaacgaaat cttggcctcg gtcaaggcga ccacccttgg tgtatccagt gactcaccgg
      541 ggactacaac cctggctcag caagtctcag gcccagtcaa cactaccgtg gctagaggag
      601 gcggctcagg caaccctact accaccatcg agagccccaa gagcacaaaa agtgcagaca
      661 ccactacagt tgcaacctcc acagccacag ctaaacctaa caccacaagc agccagaatg
      721 gagcagaaga tacaacaaac tctgggggga aaagcagcca cagtgtgacc acagacctca
      781 catccactaa ggcagaacat ctgacgaccc ctcaccctac aagtccactt agcccccgac
      841 aacccacttc gacgcatcct gtggccaccc caacaagctc gggacatgac catcttatga
      901 aaatttcaag cagttcaagc actgtggcta tccctggcta caccttcaca agcccgggga
      961 tgaccaccac cctactagag acagtgtttc accatgtcag ccaggctggt cttgaactcc
     1021 tgacctcggg tgatctgccc accttggcct cccaaagtgc tgggattaca gcgtcatcgg
     1081 ttatctcgca aagaactcaa cagacctcca gtcagatgcc agccagctct acggcccctt
     1141 cctcccagga gacagtgcag cccacgagcc cggcaacggc attgagaaca cctaccctgc
     1201 cagagaccat gagctccagc cccacagcag catcaactac ccaccgatac cccaaaacac
     1261 cttctcccac tgtggctcat gagagtaact gggcaaagtg tgaggatctt gagacacaga
     1321 cacagagtga gaagcagctc gtcctgaacc tcacaggaaa caccctctgt gcagggggcg
     1381 cttcggatga gaaattgatc tcactgatat gccgagcagt caaagccacc ttcaacccgg
     1441 cccaagataa gtgcggcata cggctggcat ctgttccagg aagtcagacc gtggtcgtca
     1501 aagaaatcac tattcacact aagctccctg ccaaggatgt gtacgagcgg ctgaaggaca
     1561 aatgggatga actaaaggag gcaggggtca gtgacatgaa gctaggggac caggggccac
     1621 cggaggaggc cgaggaccgc ttcagcatgc ccctcatcat caccatcgtc tgcatggcat
     1681 cattcctgct cctcgtggcg gccctctatg gctgctgcca ccagcgcctc tcccagagga
     1741 aggaccagca gcggctaaca gaggagctgc agacagtgga gaatggttac catgacaacc
     1801 caacactgga agtgatggag acctcttctg agatgcagga gaagaaggtg gtcagcctca
     1861 acggggagct gggggacagc tggatcgtcc ctctggacaa cctgaccaag gacgacctgg
     1921 atgaggagga agacacacac ctctagtccg gtctgccggt ggcctccagc agcaccacag
     1981 agctccagac caaccacccc aagtgccgtt tggatgggga agggaaagac tggggaggga
     2041 gagtgaactc cgaggggtgt cccctcccaa tccccccagg gccttaattt ttcccttttc
     2101 aacctgaaca aatcacattc tgtccagatt cctcttgtaa aataacccac tagtgcctga
     2161 gctcagtgct gctggatgat gagggagatc aagaaaaagc cacgtaaggg actttataga
     2221 tgaactagtg gaatcccttc attctgcagt gagattgccg agacctgaag agggtaagtg
     2281 acttgcccaa ggtcagagcc acttggtgac agagccagga tgagaacaaa gattccattt
     2341 gcaccatgcc acactgctgt gttcacatgt gccttccgtc cagagcagtc ccgggcaggg
     2401 gtgaaactcc agcaggtggc tgggctggaa aggagggcag ggctacatcc tggctcggtg
     2461 ggatctgacg acctgaaagt ccagctccca agttttcctt ctcctacccc agcctcgtgt
     2521 acccatcttc ccaccctcta tgttcttacc cctccctaca ctcagtgttt gttcccactt
     2581 actctgtcct ggggcctctg ggattagcac aggttattca taaccttgaa ccccttgttc
     2641 tggattcgga ttttctcaca tttgcttcgt gagatggggg cttaacccac acaggtctcc
     2701 gtgcgtgaac caggtctgct taggggacct gcgtgcaggt gaggagagaa ggggacactc
     2761 gagtccaggc tggtatctca gggcagctga tgaggggtca gcaggaacac tggcccattg
     2821 cccctggcac tccttgcaga ggccacccac gatcttcttt gggcttccat ttccaccagg
     2881 gactaaaatc tgctgtagct agtgagagca gcgtgttcct tttgttgttc actgctcagc
     2941 tgatgggagt gattccctga gacccagtat gaaagagcag tggctgcagg agaggccttc
     3001 ccggggcccc ccatcagcga tgtgtcttca gagacaatcc attaaagcag ccaggaagga
     3061 caggctttcc cctgtatatc ataggaaact cagggacatt tcaagttgct gagagttttg
     3121 ttatagttgt tttctaaccc agccctccac tgccaaaggc caaaagctca gacagttggc
     3181 agacgtccag ttagctcatc tcactcactc tgattctcct gtgccacagg aaaagagggc
     3241 ctggaaagcg cagtgcatgc tgggtgcatg aagggcagcc tgggggacag actgttgtgg
     3301 gaacgtccca ctgtcctggc ctggagctag gccttgctgt tcctcttctc tgtgagccta
     3361 gtggggctgc tgcggttctc ttgcagtttc tggtggcatc tcaggggaac acaaagctat
     3421 gtctattccc caatatagga cttttatggg ctcggcagtt agctgccatg tagaaggctc
     3481 ctaagcagtg ggcatggtga ggtttcatct gattgagaag ggggaatcct gtgtggaatg
     3541 ttgaactttc gccatggtct ccatcgttct gggcgtaaat tccctgggat caagtaggaa
     3601 aatgggcaga actgcttagg ggaatgaaat tgccattttt cgggtgaaac gccacacctc
     3661 cagggtctta agagtcaggc tccggctgta gtagctctga tgaaataggc tatccactcg
     3721 ggatggctta ctttttaaaa gggtaggggg aggggctggg gaagatctgt cctgcaccat
     3781 ctgcctaatt ccttcctcac agtctgtagc catctgatat cctaggggaa aaggaaggcc
     3841 aggggttcac atagggcccc agcgagtttc ccaggagtta gagggatgcg aggctaacaa
     3901 gttccaaaaa catctgcccc gatgctctag tgtttggagg tgggcaggat ggagaacagt
     3961 gcctgtttgg gggaaaacag gaaatcttgt taggcttgag tgaggtgttt gcttccttct
     4021 tgcccagcgc tgggttctct ccacccagta ggttttctgt tgtggtcccg tgggagaggc
     4081 cagactggat tattcctcct ttgctgatcc tgggtcacac ttcaccagcc agggcttttg
     4141 acggagacag caaataggcc tctgcaaatc aatcaaaggc tgcaacccta tggcctcttg
     4201 gagacagatg atgactggca aggactagag agcaggagtg cctggccagg tcggtcctga
     4261 ctctcctgac tctccatcgc tctgtccaag gagaacccgg agaggctctg ggctgattca
     4321 gaggttactg ctttatattc gtccaaactg tgttagtcta ggcttaggac agcttcagaa
     4381 tctgacacct tgccttgctc ttgccaccag gacacctatg tcaacaggcc aaacagccat
     4441 gcatctataa aggtcatcat cttctgccac ctttactggg ttctaaatgc tctctgataa
     4501 ttcagagagc attgggtctg ggaagaggta agaggaacac tagaagctca gcatgactta
     4561 aacaggttgt agcaaagaca gtttatcatc agctctttca gtggtaaact gtggtttccc
     4621 caagctgcac aggaggccag aaaccacaag tatgatgact aggaagccta ctgtcatgag
     4681 agtggggaga caggcagcaa agcttatgaa ggaggtacag aatattcttt gcgttgtaag
     4741 acagaatacg ggtttaatct agtctaggca ccagattttt ttcccgcttg ataaggaaag
     4801 ctagcagaaa gtttatttaa accacttctt gagctttatc ttttttgaca atatactgga
     4861 gaaactttga agaacaagtt caaactgata catatacaca tatttttttg ataatgtaaa
     4921 tacagtgacc atgttaacct accctgcact gctttaagtg aacatacttt gaaaaagcat
     4981 tatgttagct gagtgatggc caagtttttt ctctggacag gaatgtaaat gtcttactgg
     5041 aaatgacaag tttttgcttg attttttttt ttaaacaaaa aatgaaatat aacaagacaa
     5101 acttatgata aagtatttgt cttgtagatc aggtgttttg ttttgttttt ttaattttaa
     5161 aatgcaaccc tgccccctcc ccagcaaagt cacagctcca tttcagtaaa ggttggagtc
     5221 aatatgctct ggttggcagg caaccctgta gtcatggaga aaggtatttc aagatctagt
     5281 ccaatctttt tctagagaaa aagataatct gaagctcaca aagatgaagt gacttcctca
     5341 aaatcacatg gttcaggaca gaaacaagat taaaacctgg atccacagac tgtgcgcctc
     5401 agaaggaata atcggtaaat taagaattgc tactcgaagg tgccagaatg acacaaagga
     5461 cagaattcct ttcccagttg ttaccctagc aaggctaggg agggcatgaa cacaaacata
     5521 agaactggtc ttctacactt tctctgaatc atttaggttt aagatgtaag tgaacaattc
     5581 tttctttctg ccaagaaaca aagttttgga tgagctttta tatatggaac ttactccaac
     5641 aggactgagg gaccaaggaa acatgatggg ggaggcagag agggcaagag taaaactgta
     5701 gcatagcttt tgtcacggtc actagctgat ccctcaggtc tgctgcaaac acagcatgga
     5761 ggacacagat gactctttgg tgttggtctt tttgtctgca gtgaatgttc aacagtttgc
     5821 ccaggaactg ggggatcata tatgtcttag tggacagggg tctgaagtac actggaattt
     5881 actgagaaac ttgtttgtaa aaactatagt taataattat tgcattttct tacaaaaata
     5941 tattttggaa aattgtatac tgtcaattaa agtgtttttg tgtaaa
//
LOCUS       NM_001018113            3017 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens FA complementation group B (FANCB), transcript variant
            1, mRNA.
ACCESSION   NM_001018113
VERSION     NM_001018113.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3017)
  AUTHORS   Su L, Huang H, Gao M, Li Y, Shi R, Chen C, Li X, Zhu G, Liu H and
            Chen J.
  TITLE     [Association of CDH1, FANCB and APC Gene Polymorphisms with Lung
            Cancer Susceptibility in Chinese Population]
  JOURNAL   Zhongguo Fei Ai Za Zhi 25 (9), 658-664 (2022)
   PUBMED   36172730
  REMARK    GeneRIF: [Association of CDH1, FANCB and APC Gene Polymorphisms with
            Lung Cancer Susceptibility in Chinese Population].
REFERENCE   2  (bases 1 to 3017)
  AUTHORS   Glaas MF, Wiek C, Wolter LM, Roellecke K, Balz V, Okpanyi V,
            Wagenmann M, Hoffmann TK, Grasslin R, Plettenberg C, Schipper J,
            Hanenberg H and Scheckenbach K.
  TITLE     Mutational and Functional Analysis of FANCB as a Candidate Gene for
            Sporadic Head and Neck Squamous Cell Carcinomas
  JOURNAL   Anticancer Res 38 (3), 1317-1325 (2018)
   PUBMED   29491055
  REMARK    GeneRIF: Four single nucleotide polymorphisms were identified, three
            of which were located in untranslated regions of Fanconi anemia
            group B protein (FANCB) and predicted to be associated with normal
            function.
REFERENCE   3  (bases 1 to 3017)
  AUTHORS   Asur RS, Kimble DC, Lach FP, Jung M, Donovan FX, Kamat A, Noonan RJ,
            Thomas JW, Park M, Chines P, Vlachos A, Auerbach AD, Smogorzewska A
            and Chandrasekharappa SC.
  TITLE     Somatic mosaicism of an intragenic FANCB duplication in both
            fibroblast and peripheral blood cells observed in a Fanconi anemia
            patient leads to milder phenotype
  JOURNAL   Mol Genet Genomic Med 6 (1), 77-91 (2018)
   PUBMED   29193904
  REMARK    GeneRIF: We identified a 9154 bp intragenic duplication in FANCB,
            covering the first coding exon 3 and the flanking regions. The
            duplicated allele gives rise to an aberrant transcript containing
            exon 3 duplication, predicted to introduce a stop codon in FANCB
            protein (p.A319*).
REFERENCE   4  (bases 1 to 3017)
  AUTHORS   Huang Y, Leung JW, Lowery M, Matsushita N, Wang Y, Shen X, Huong D,
            Takata M, Chen J and Li L.
  TITLE     Modularized functions of the Fanconi anemia core complex
  JOURNAL   Cell Rep 7 (6), 1849-1857 (2014)
   PUBMED   24910428
  REMARK    Erratum:[Cell Rep. 2016 Mar 22;14(11):2761-3]
REFERENCE   5  (bases 1 to 3017)
  AUTHORS   Presta L, Sims P, Meng YG, Moran P, Bullens S, Bunting S, Schoenfeld
            J, Lowe D, Lai J, Rancatore P, Iverson M, Lim A, Chisholm V, Kelley
            RF, Riederer M and Kirchhofer D.
  TITLE     Generation of a humanized, high affinity anti-tissue factor antibody
            for use as a novel antithrombotic therapeutic
  JOURNAL   Thromb Haemost 85 (3), 379-389 (2001)
   PUBMED   11307801
REFERENCE   6  (bases 1 to 3017)
  AUTHORS   Huang M, Syed R, Stura EA, Stone MJ, Stefanko RS, Ruf W, Edgington
            TS and Wilson IA.
  TITLE     The mechanism of an inhibitory antibody on TF-initiated blood
            coagulation revealed by the crystal structures of human tissue
            factor, Fab 5G9 and TF.G9 complex
  JOURNAL   J Mol Biol 275 (5), 873-894 (1998)
   PUBMED   9480775
REFERENCE   7  (bases 1 to 3017)
  AUTHORS   Joenje H, Oostra AB, Wijker M, di Summa FM, van Berkel CG, Rooimans
            MA, Ebell W, van Weel M, Pronk JC, Buchwald M and Arwert F.
  TITLE     Evidence for at least eight Fanconi anemia genes
  JOURNAL   Am J Hum Genet 61 (4), 940-944 (1997)
   PUBMED   9382107
REFERENCE   8  (bases 1 to 3017)
  AUTHORS   Muller YA, Ultsch MH and de Vos AM.
  TITLE     The crystal structure of the extracellular domain of human tissue
            factor refined to 1.7 A resolution
  JOURNAL   J Mol Biol 256 (1), 144-159 (1996)
   PUBMED   8609606
REFERENCE   9  (bases 1 to 3017)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview - RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301753
REFERENCE   10  (bases 1 to 3017)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301575
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC136558.1, SRR14038195.1933098.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000650831.1/ ENSP00000498215.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK091383.1, BP236844.1 and
            AC140846.3.
            On Nov 22, 2018 this sequence version replaced NM_001018113.2.
            Summary: This gene encodes a member of the Fanconi anemia
            complementation group B. This protein is assembled into a
            nucleoprotein complex that is involved in the repair of DNA
            lesions. Mutations in this gene can cause chromosome instability
            and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr
            2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3017
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..3017
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /note="FA complementation group B"
                     /db_xref="GeneID:2187"
                     /db_xref="HGNC:HGNC:3583"
                     /db_xref="MIM:300515"
     misc_feature    264..266
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /note="upstream in-frame stop codon"
     CDS             276..2855
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Fanconi anemia-associated polypeptide of 95 kDa; Fanconi
                     anemia group B protein; Fanconi anemia complementation
                     group B"
                     /codon_start=1
                     /product="Fanconi anemia group B protein isoform 1"
                     /protein_id="NP_001018123.1"
                     /db_xref="CCDS:CCDS14161.1"
                     /db_xref="GeneID:2187"
                     /db_xref="HGNC:HGNC:3583"
                     /db_xref="MIM:300515"
                     /translation="MTSKQAMSSNEQERLLCYNGEVLVFQLSKGNFADKEPTKTPILHV
                     RRMVFDRGTKVFVQKSTGFFTIKEENSHLKIMCCNCVSDFRTGINLPYIVIEKNKKNNV
                     FEYFLLILHSTNKFEMRLSFKLGYEMKDGLRVLNGPLILWRHVKAFFFISSQTGKVVSV
                     SGNFSSIQWAGEIENLGMVLLGLKECCLSEEECTQEPSKSDYAIWNTKFCVYSLESQEV
                     LSDIYIIPPAYSSVVTYVHICATEIIKNQLRISLIALTRKNQLISFQNGTPKNVCQLPF
                     GDPCAVQLMDSGGGNLFFVVSFISNNACAVWKESFQVAAKWEKLSLVLIDDFIGSGTEQ
                     VLLLFKDSLNSDCLTSFKITDLGKINYSSEPSDCNEDDLFEDKQENRYLVVPPLETGLK
                     VCFSSFRELRQHLLLKEKIISKSYKALINLVQGKDDNTSSAEEKECLVPLCGEEENSVH
                     ILDEKLSDNFQDSEQLVEKIWYRVIDDSLVVGVKTTSSLKLSLNDVTLSLLMDQAHDSR
                     FRLLKCQNRVIKLSTNPFPAPYLMPCEIGLEAKRVTLTPDSKKEESFVCEHPSKKECVQ
                     IITAVTSLSPLLTFSKFCCTVLLQIMERESGNCPKDRYVVCGRVFLSLEDLSTGKYLLT
                     FPKKKPIEHMEDLFALLAAFHKSCFQITSPGYALNSMKVWLLEHMKCEIIKEFPEVYFC
                     ERPGSFYGTLFTWKQRTPFEGILIIYSRNQTVMFQCLHNLIRILPINCFLKNLKSGSEN
                     FLIDNMAFTLEKELVTLSSLSSAIAKHESNFMQRCEVSKGKSSVVAAALSDRRENIHPY
                     RKELQREKKKMLQTNLKVSGALYREITLKVAEVQLKSDFAAQKLSNL"
     misc_feature    279..281
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /note="N-acetylthreonine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8NB91.1); acetylation site"
     regulatory      2996..3001
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /note="hexamer: AATAAA"
     polyA_site      3017
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /note="major polyA site"
ORIGIN
        1 aggatgcagc gcgctggcgg gaggtttgga gcagatggat accgtatcga cgtggggcct
       61 ccggtatgtt gccgctgcgt tgagtttcat aagtacaagc cagacctttg atttacctac
      121 cctatcttct ttactgatga agctgaaact actttgtgat gcctattgtc ccagatcttt
      181 ctgttaattg cctaacaaca aaccagttta gaaacatcaa ctggaatcaa tttgcatttg
      241 aaaattagat cagcacaaag acttgatatt gtggaatgac tagcaaacaa gcaatgtcat
      301 ctaacgaaca agaaaggctc ttgtgttata atggggaagt ccttgttttc cagttgtcta
      361 aaggaaattt tgcagataaa gagcctacaa aaacacccat attacatgtc agaagaatgg
      421 tatttgacag aggaacaaaa gtatttgttc agaagtccac tggatttttt accataaagg
      481 aagaaaactc tcatttaaaa atcatgtgtt gcaactgtgt gtcagatttc agaactggaa
      541 ttaacctccc ttacattgtg atagaaaaaa ataaaaagaa taatgttttt gaatattttt
      601 tactaatcct tcacagtact aataaatttg aaatgcgttt gagttttaaa ctaggctatg
      661 agatgaagga tggcctaagg gtccttaatg gccctttaat tttatggagg catgtcaaag
      721 cattcttctt tatctcttct caaactggca aagttgttag tgtgtcaggt aacttttcct
      781 ctattcagtg ggcaggggag attgaaaatt taggtatggt tttattggga ctaaaggaat
      841 gttgtttatc tgaggaagaa tgtactcaag agccttcaaa atcagattat gcaatttgga
      901 ataccaaatt ttgtgtatat tctcttgaaa gtcaagaagt attaagtgat atatacatta
      961 ttcctcctgc ttacagcagt gtggtgactt atgtacatat ttgtgcaact gagatcatca
     1021 aaaaccagtt aagaatatct ctcattgccc ttactcgaaa gaatcagctg atttcatttc
     1081 agaatggaac tcctaaaaat gtgtgccagc ttccatttgg agatccttgt gcagttcaac
     1141 ttatggattc aggtggagga aacctctttt tcgttgtatc ctttatatcc aataatgctt
     1201 gtgctgtatg gaaagagagc tttcaggttg ctgctaaatg ggaaaaactt agcttagtac
     1261 tgatagatga ctttattgga agtggaactg aacaagtact cctacttttt aaggactcct
     1321 tgaactcaga ctgcctgact tcatttaaaa taacggatct tggaaaaata aactattcga
     1381 gtgaaccatc agattgcaat gaagatgact tatttgaaga caaacaagag aatcgttacc
     1441 tggtggttcc acctctagaa acaggactga aagtttgttt ttcttctttt cgggaattac
     1501 ggcagcatct gttgcttaag gaaaaaatta tttcaaaatc ttacaaagct ttaataaacc
     1561 tagttcaagg aaaagatgat aatacgtcaa gtgcagagga gaaggaatgt cttgttcctc
     1621 tttgtggtga agaagaaaat tctgtccata tcttagatga aaagttatca gacaattttc
     1681 aagattcaga acagctagta gagaagatat ggtatcgtgt aatagatgat agcttggttg
     1741 ttggagtgaa aactacatct tctttgaagc tgtccctgaa tgatgtgact ttatcattgt
     1801 taatggatca agcccatgac tccagatttc ggcttctaaa gtgtcaaaat agggtgatta
     1861 agttgagtac aaatcctttc ccagcaccat acttgatgcc atgtgaaata ggattggaag
     1921 caaaaagggt cacgttgacc cctgatagca agaaagagga aagctttgtt tgtgaacacc
     1981 catctaagaa agagtgtgta cagataatta ctgctgtaac atctctttca ccacttttaa
     2041 cattcagtaa attttgttgc actgtactgc tacaaattat ggagagagaa agtggtaact
     2101 gtcctaaaga tcgttatgtt gtgtgtggca gagttttttt aagtctagaa gatctttcaa
     2161 ctgggaagta cctactgaca tttccaaaga agaaacctat agagcacatg gaagatcttt
     2221 ttgcacttct tgcagcattc cataaatctt gttttcaaat cacatcaccc ggctatgccc
     2281 tgaattcaat gaaggtgtgg ctcttagaac atatgaaatg tgaaataatc aaagaatttc
     2341 cagaagtgta cttttgtgaa agaccgggaa gtttctatgg gacactcttc acttggaaac
     2401 agagaacacc attcgaaggg attttaataa tctattccag gaatcaaaca gttatgttcc
     2461 agtgccttca taatctcatc agaattctcc ctataaactg tttcctcaaa aatctaaaat
     2521 caggaagtga gaatttccta attgataata tggcatttac tttggagaag gaactagtca
     2581 cccttagttc tctttcttct gccatagcta aacatgaaag caattttatg cagaggtgtg
     2641 aagtgagcaa aggaaagagt agtgtcgtcg cggctgcttt atcagacaga agggaaaata
     2701 tccatcccta cagaaaagaa cttcagagag aaaagaagaa aatgttgcaa acgaacctaa
     2761 aagtgagtgg tgccctttac agagaaataa ctttgaaagt agctgaggtt cagttgaaat
     2821 cagactttgc tgcacagaaa ctgagtaatt tataattata atttcaattt gatcatattt
     2881 taaaatatgt tttcaccacc atataagatt ttggttctac ttgctatatg cctcctttgt
     2941 aaaaataaac accgaggctt actgtagtag aaactttagt tttgatgatg cacaaaataa
     3001 acagcagtgg ttctcaa
//
LOCUS       NM_001018115            5096 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens FA complementation group D2 (FANCD2), transcript
            variant 2, mRNA.
ACCESSION   NM_001018115
VERSION     NM_001018115.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5096)
  AUTHORS   Zhou L, Zhang Q, Cheng J, Shen X, Li J, Chen M, Zhou C and Zhou J.
  TITLE     LncRNA SNHG1 upregulates FANCD2 and G6PD to suppress ferroptosis by
            sponging miR-199a-5p/3p in hepatocellular carcinoma
  JOURNAL   Drug Discov Ther 17 (4), 248-256 (2023)
   PUBMED   37599085
  REMARK    GeneRIF: LncRNA SNHG1 upregulates FANCD2 and G6PD to suppress
            ferroptosis by sponging miR-199a-5p/3p in hepatocellular carcinoma.
REFERENCE   2  (bases 1 to 5096)
  AUTHORS   Li X and Liu J.
  TITLE     FANCD2 inhibits ferroptosis by regulating the JAK2/STAT3 pathway in
            osteosarcoma
  JOURNAL   BMC Cancer 23 (1), 179 (2023)
   PUBMED   36814203
  REMARK    GeneRIF: FANCD2 inhibits ferroptosis by regulating the JAK2/STAT3
            pathway in osteosarcoma. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5096)
  AUTHORS   Said M, Barra V, Balzano E, Talhaoui I, Pelliccia F, Giunta S and
            Naim V.
  TITLE     FANCD2 promotes mitotic rescue from transcription-mediated
            replication stress in SETX-deficient cancer cells
  JOURNAL   Commun Biol 5 (1), 1395 (2022)
   PUBMED   36543851
  REMARK    GeneRIF: FANCD2 promotes mitotic rescue from transcription-mediated
            replication stress in SETX-deficient cancer cells. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 5096)
  AUTHORS   Wells JP, Chang EY, Dinatto L, White J, Ryall S and Stirling PC.
  TITLE     RAD18 opposes transcription-associated genome instability through
            FANCD2 recruitment
  JOURNAL   PLoS Genet 18 (12), e1010309 (2022)
   PUBMED   36480547
  REMARK    GeneRIF: RAD18 opposes transcription-associated genome instability
            through FANCD2 recruitment. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5096)
  AUTHORS   Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, Hejna
            J, Grompe M and D'Andrea AD.
  TITLE     Interaction of the Fanconi anemia proteins and BRCA1 in a common
            pathway
  JOURNAL   Mol Cell 7 (2), 249-262 (2001)
   PUBMED   11239454
REFERENCE   6  (bases 1 to 5096)
  AUTHORS   Timmers C, Taniguchi T, Hejna J, Reifsteck C, Lucas L, Bruun D,
            Thayer M, Cox B, Olson S, D'Andrea AD, Moses R and Grompe M.
  TITLE     Positional cloning of a novel Fanconi anemia gene, FANCD2
  JOURNAL   Mol Cell 7 (2), 241-248 (2001)
   PUBMED   11239453
REFERENCE   7  (bases 1 to 5096)
  AUTHORS   Hejna JA, Timmers CD, Reifsteck C, Bruun DA, Lucas LW, Jakobs PM,
            Toth-Fejel S, Unsworth N, Clemens SL, Garcia DK, Naylor SL, Thayer
            MJ, Olson SB, Grompe M and Moses RE.
  TITLE     Localization of the Fanconi anemia complementation group D gene to a
            200-kb region on chromosome 3p25.3
  JOURNAL   Am J Hum Genet 66 (5), 1540-1551 (2000)
   PUBMED   10762542
REFERENCE   8  (bases 1 to 5096)
  AUTHORS   Whitney M, Thayer M, Reifsteck C, Olson S, Smith L, Jakobs PM, Leach
            R, Naylor S, Joenje H and Grompe M.
  TITLE     Microcell mediated chromosome transfer maps the Fanconi anaemia
            group D gene to chromosome 3p
  JOURNAL   Nat Genet 11 (3), 341-343 (1995)
   PUBMED   7581463
REFERENCE   9  (bases 1 to 5096)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview - RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301753
REFERENCE   10  (bases 1 to 5096)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301575
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF340183.1, SRR14038196.2278805.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000675286.1/ ENSP00000502379.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC034193.5.
            On Sep 16, 2019 this sequence version replaced NM_001018115.2.
            Summary: The Fanconi anemia complementation group (FANC) currently
            includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2,
            FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM
            and FANCN (also called PALB2). The previously defined group FANCH
            is the same as FANCA. Fanconi anemia is a genetically heterogeneous
            recessive disorder characterized by cytogenetic instability,
            hypersensitivity to DNA crosslinking agents, increased chromosomal
            breakage, and defective DNA repair. The members of the Fanconi
            anemia complementation group do not share sequence similarity; they
            are related by their assembly into a common nuclear protein
            complex. This gene encodes the protein for complementation group
            D2. This protein is monoubiquinated in response to DNA damage,
            resulting in its localization to nuclear foci with other proteins
            (BRCA1 AND BRCA2) involved in homology-directed DNA repair.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Feb 2016].
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3' coding region, compared to variant 1. It encodes isoform
            b which has a shorter and distinct C-terminus, compared to isoform
            a. Variants 2 and 3 encode the same isoform.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5096
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..5096
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="FA complementation group D2"
                     /db_xref="GeneID:2177"
                     /db_xref="HGNC:HGNC:3585"
                     /db_xref="MIM:613984"
     misc_feature    47..49
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="upstream in-frame stop codon"
     CDS             71..4426
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="isoform b is encoded by transcript variant 2;
                     fanconi anemia group D2 protein; Fanconi anemia
                     complementation group D2"
                     /codon_start=1
                     /product="Fanconi anemia group D2 protein isoform b"
                     /protein_id="NP_001018125.1"
                     /db_xref="CCDS:CCDS33696.1"
                     /db_xref="GeneID:2177"
                     /db_xref="HGNC:HGNC:3585"
                     /db_xref="MIM:613984"
                     /translation="MVSKRRLSKSEDKESLTEDASKTRKQPLSKKTKKSHIANEVEEND
                     SIFVKLLKISGIILKTGESQNQLAVDQIAFQKKLFQTLRRHPSYPKIIEEFVSGLESYI
                     EDEDSFRNCLLSCERLQDEEASMGASYSKSLIKLLLGIDILQPAIIKTLFEKLPEYFFE
                     NKNSDEINIPRLIVSQLKWLDRVVDGKDLTTKIMQLISIAPENLQHDIITSLPEILGDS
                     QHADVGKELSDLLIENTSLTVPILDVLSSLRLDPNFLLKVRQLVMDKLSSIRLEDLPVI
                     IKFILHSVTAMDTLEVISELREKLDLQHCVLPSRLQASQVKLKSKGRASSSGNQESSGQ
                     SCIILLFDVIKSAIRYEKTISEAWIKAIENTASVSEHKVFDLVMLFIIYSTNTQTKKYI
                     DRVLRNKIRSGCIQEQLLQSTFSVHYLVLKDMCSSILSLAQSLLHSLDQSIISFGSLLY
                     KYAFKFFDTYCQQEVVGALVTHICSGNEAEVDTALDVLLELVVLNPSAMMMNAVFVKGI
                     LDYLDNISPQQIRKLFYVLSTLAFSKQNEASSHIQDDMHLVIRKQLSSTVFKYKLIGII
                     GAVTMAGIMAADRSESPSLTQERANLSDEQCTQVTSLLQLVHSCSEQSPQASALYYDEF
                     ANLIQHEKLDPKALEWVGHTICNDFQDAFVVDSCVVPEGDFPFPVKALYGLEEYDTQDG
                     IAINLLPLLFSQDFAKDGGPVTSQESGQKLVSPLCLAPYFRLLRLCVERQHNGNLEEID
                     GLLDCPIFLTDLEPGEKLESMSAKERSFMCSLIFLTLNWFREIVNAFCQETSPEMKGKV
                     LTRLKHIVELQIILEKYLAVTPDYVPPLGNFDVETLDITPHTVTAISAKIRKKGKIERK
                     QKTDGSKTSSSDTLSEEKNSECDPTPSHRGQLNKEFTGKEEKTSLLLHNSHAFFRELDI
                     EVFSILHCGLVTKFILDTEMHTEATEVVQLGPPELLFLLEDLSQKLESMLTPPIARRVP
                     FLKNKGSRNIGFSHLQQRSAQEIVHCVFQLLTPMCNHLENIHNYFQCLAAENHGVVDGP
                     GVKVQEYHIMSSCYQRLLQIFHGLFAWSGFSQPENQNLLYSALHVLSSRLKQGEHSQPL
                     EELLSQSVHYLQNFHQSIPSFQCALYLIRLLMVILEKSTASAQNKEKIASLARQFLCRV
                     WPSGDKEKSNISNDQLHALLCIYLEHTESILKAIEEIAGVGVPELINSPKDASSSTFPT
                     LTRHTFVVFFRVMMAELEKTVKKIEPGTAADSQQIHEEKLLYWNMAVRDFSILINLIKV
                     FDSHPVLHVCLKYGRLFVEAFLKQCMPLLDFSFRKHREDVLSLLETFQLDTRLLHHLCG
                     HSKIHQDTRLTQHVPLLKKTLELLVCRVKAMLTLNNCREAFWLGNLKNRDLQGEEIKSQ
                     NSQESTADESEDDMSSQASKSKATEDGEEDEVSAGEKEQDSDESYDDSD"
     misc_feature    71..943
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXW9.2);
                     Region: Interaction with FANCE"
     misc_feature    71..181
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXW9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    92..94
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2); phosphorylation site"
     misc_feature    734..736
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="Phosphoserine, by ATM.
                     /evidence=ECO:0000269|PubMed:12086603; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2); phosphorylation site"
     misc_feature    812..1147
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXW9.2);
                     Region: Interaction with BRCA2"
     misc_feature    1844..1846
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2); phosphorylation site"
     misc_feature    1850..1852
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2); phosphorylation site"
     misc_feature    2219..2221
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2); phosphorylation site"
     misc_feature    2672..2788
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXW9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3839..3841
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2); phosphorylation site"
     misc_feature    4256..4423
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXW9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4271..4273
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="Phosphoserine, by ATM. /evidence=ECO:0000305;
                     propagated from UniProtKB/Swiss-Prot (Q9BXW9.2);
                     phosphorylation site"
     misc_feature    4280..4282
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="Phosphoserine, by ATM.
                     /evidence=ECO:0000269|PubMed:12086603; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2); phosphorylation site"
     misc_feature    4304..4306
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2); phosphorylation site"
     misc_feature    4337..4339
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2); phosphorylation site"
     misc_feature    4346..4348
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2); phosphorylation site"
     misc_feature    4373..4375
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2); phosphorylation site"
     regulatory      5074..5079
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="hexamer: AATAAA"
     polyA_site      5096
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /note="major polyA site"
ORIGIN
        1 gggaaagtcg aaaactacgg gcggcgacgg cttctcggaa gtaatttaag tgcacaagac
       61 attggtcaaa atggtttcca aaagaagact gtcaaaatct gaggataaag agagcctgac
      121 agaagatgcc tccaaaacca ggaagcaacc actttccaaa aagacaaaga aatctcatat
      181 tgctaatgaa gttgaagaaa atgacagcat ctttgtaaag cttcttaaga tatcaggaat
      241 tattcttaaa acgggagaga gtcagaatca actagctgtg gatcaaatag ctttccaaaa
      301 gaagctcttt cagaccctga ggagacaccc ttcctatccc aaaataatag aagaatttgt
      361 tagtggcctg gagtcttaca ttgaggatga agacagtttc aggaactgcc ttttgtcttg
      421 tgagcgtctg caggatgagg aagccagtat gggtgcatct tattctaaga gtctcatcaa
      481 actgcttctg gggattgaca tactgcagcc tgccattatc aaaaccttat ttgagaagtt
      541 gccagaatat ttttttgaaa acaagaacag tgatgaaatc aacatacctc gactcattgt
      601 cagtcaacta aaatggcttg acagagttgt ggatggcaag gacctcacca ccaagatcat
      661 gcagctgatc agtattgctc cagagaacct gcagcatgac atcatcacca gcctacctga
      721 gatcctaggg gattcccagc acgctgatgt ggggaaagaa ctcagtgacc tactgataga
      781 gaatacttca ctcactgtcc caatcctgga tgtcctttca agcctccgac ttgacccaaa
      841 cttcctattg aaggttcgcc agttggtgat ggataagttg tcgtctatta gattggagga
      901 tttacctgtg ataataaagt tcattcttca ttccgtaaca gccatggata cacttgaggt
      961 aatttctgag cttcgggaga agttggatct gcagcattgt gttttgccat cacggttaca
     1021 ggcttcccaa gtaaagttga aaagtaaagg acgagcaagt tcctcaggaa atcaagaaag
     1081 cagcggtcag agctgtatta ttctcctctt tgatgtaata aagtcagcta ttagatatga
     1141 gaaaaccatt tcagaagcct ggattaaggc aattgaaaac actgcctcag tatctgaaca
     1201 caaggtgttt gacctggtga tgcttttcat catctatagc accaatactc agacaaagaa
     1261 gtacattgac agggtgctaa gaaataagat tcgatcaggc tgcattcaag aacagctgct
     1321 ccagagtaca ttctctgttc attacttagt tcttaaggat atgtgttcat ccattctgtc
     1381 gctggctcag agtttgcttc actctctaga ccagagtata atttcatttg gcagtctcct
     1441 atacaaatat gcatttaagt tttttgacac gtactgccag caggaagtgg ttggtgcctt
     1501 agtgacccat atctgcagtg ggaatgaagc tgaagttgat actgccttag atgtccttct
     1561 agagttggta gtgttaaacc catctgctat gatgatgaat gctgtctttg taaagggcat
     1621 tttagattat ctggataaca tatcccctca gcaaatacga aaactcttct atgttctcag
     1681 cacactggca tttagcaaac agaatgaagc cagcagccac atccaggatg acatgcactt
     1741 ggtgataaga aagcagctct ctagcaccgt attcaagtac aagctcattg ggattattgg
     1801 tgctgtgacc atggctggca tcatggcggc agacagaagt gaatcaccta gtttgaccca
     1861 agagagagcc aacctgagcg atgagcagtg cacacaggtg acctccttgt tgcagttggt
     1921 tcattcctgc agtgagcagt ctcctcaggc ctctgcactt tactatgatg aatttgccaa
     1981 cctgatccaa catgaaaagc tggatccaaa agccctggaa tgggttgggc ataccatctg
     2041 taatgatttc caggatgcct tcgtagtgga ctcctgtgtt gttccggaag gtgactttcc
     2101 atttcctgtg aaagcactgt acggactgga agaatacgac actcaggatg ggattgccat
     2161 aaacctcctg ccgctgctgt tttctcagga ctttgcaaaa gatgggggtc cggtgacctc
     2221 acaggaatca ggccaaaaat tggtgtctcc gctgtgcctg gctccgtatt tccggttact
     2281 gagactttgt gtggagagac agcataacgg aaacttggag gagattgatg gtctactaga
     2341 ttgtcctata ttcctaactg acctggagcc tggagagaag ttggagtcca tgtctgctaa
     2401 agagcgttca ttcatgtgtt ctctcatatt tcttactctc aactggttcc gagagattgt
     2461 aaatgccttc tgccaggaaa catcacctga gatgaagggg aaggtgctca ctcggttaaa
     2521 gcacattgta gaattgcaaa taatcctgga aaagtacttg gcagtcaccc cagactatgt
     2581 ccctcctctt ggaaactttg atgtggaaac tttagatata acacctcata ctgttactgc
     2641 tatttcagca aaaatcagaa agaaaggaaa aatagaaagg aaacaaaaaa cagatggcag
     2701 caagacatcc tcctctgaca cactttcaga agagaaaaat tcagaatgtg accctacgcc
     2761 atctcataga ggccagctaa acaaggagtt cacagggaag gaagaaaaga catcattgtt
     2821 actacataat tcccatgctt ttttccgaga gctggacatt gaggtcttct ctattctaca
     2881 ttgtggactt gtgacgaagt tcatcttaga tactgaaatg cacactgaag ctacagaagt
     2941 tgtgcaactt gggccccctg agctgctttt cttgctggaa gatctctccc agaagctgga
     3001 gagtatgctg acacctccta ttgccaggag agtccccttt ctcaagaaca aaggaagccg
     3061 gaatattgga ttctcacatc tccaacagag atctgcccaa gaaattgttc attgtgtttt
     3121 tcaactgctg accccaatgt gtaaccacct ggagaacatt cacaactatt ttcagtgttt
     3181 agctgctgag aatcacggtg tagttgatgg accaggagtg aaagttcagg agtaccacat
     3241 aatgtcttcc tgctatcaga ggctgctgca gatttttcat gggctttttg cttggagtgg
     3301 attttctcaa cctgaaaatc agaatttact gtattcagcc ctccatgtcc ttagtagccg
     3361 actgaaacag ggagaacaca gccagccttt ggaggaacta ctcagccaga gcgtccatta
     3421 cttgcagaat ttccatcaaa gcattcccag tttccagtgt gctctttatc tcatcagact
     3481 tttgatggtt attttggaga aatcaacagc ttctgctcag aacaaagaaa aaattgcttc
     3541 ccttgccaga caattcctct gtcgggtgtg gccaagtggg gataaagaga agagcaacat
     3601 ctctaatgac cagctccatg ctctgctctg tatctacctg gagcacacag agagcattct
     3661 gaaggccata gaggagattg ctggtgttgg tgtcccagaa ctgatcaact ctcctaaaga
     3721 tgcatcttcc tccacattcc ctacactgac caggcatact tttgttgttt tcttccgtgt
     3781 gatgatggct gaactagaga agacggtgaa aaaaattgag cctggcacag cagcagactc
     3841 gcagcagatt catgaagaga aactcctcta ctggaacatg gctgttcgag acttcagtat
     3901 cctcatcaac ttgataaagg tatttgatag tcatcctgtt ctgcatgtat gtttgaagta
     3961 tgggcgtctc tttgtggaag catttctgaa gcaatgtatg ccgctcctag acttcagttt
     4021 tagaaaacac cgggaagatg ttctgagctt actggaaacc ttccagttgg acacaaggct
     4081 gcttcatcac ctgtgtgggc attccaagat tcaccaggac acgagactca cccaacatgt
     4141 gcctctgctc aaaaagaccc tggaactttt agtttgcaga gtcaaagcta tgctcactct
     4201 caacaattgt agagaggctt tctggctggg caatctaaaa aaccgggact tgcagggtga
     4261 agagattaag tcccaaaatt cccaggagag cacagcagat gagagtgagg atgacatgtc
     4321 atcccaggcc tccaagagca aagccactga ggatggtgaa gaagacgaag taagtgctgg
     4381 agaaaaggag caagatagtg atgagagtta tgatgactct gattagaccc cagataaatt
     4441 gttgcctgct tctgtgtctc tgccagcctg tgatcatttt gtgttagagt ttgaaatccg
     4501 ctgtttgcct ttcttactgg taggatcctt ttttgttcct cttttttttt tttttttttt
     4561 ttttttaaag acggggactc gctgtgtttc ccaggctgga gtgcagtgct gcaatcttgg
     4621 ctcactgcaa cctccatctc ctaggttcaa gcgattctcc tgcctcagcc tcctgagtag
     4681 ctgggacgac aggcacatgc caccatgccc agctaatttt tgtattttta gtagatacgg
     4741 ggttttacca tgtcggccag atggtctcaa tctcctgaac tcatgatcca cctgcctcag
     4801 cctcccaaag tgctgggatt acaggcatga gccaccgctc ccagccatat tttgttctta
     4861 aagtggggtc tttattaact tgtggacatc atggattgtc taacaccatc acagtccctg
     4921 gctcaggatt ctaatgtagc attatttatt ggtttggata aacccagctg tgctacactg
     4981 cagagtaaaa tctctgagtc atgattctgg actttgggag ctagttttga aactctgatt
     5041 tattgtagaa cttaggcttg taccaatttt acaaataaat tctgttctaa gttctg
//
LOCUS       NM_001018116            3098 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens caveolae associated protein 4 (CAVIN4), mRNA.
ACCESSION   NM_001018116
VERSION     NM_001018116.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3098)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3098)
  AUTHORS   Naito D, Ogata T, Hamaoka T, Nakanishi N, Miyagawa K, Maruyama N,
            Kasahara T, Taniguchi T, Nishi M, Matoba S and Ueyama T.
  TITLE     The coiled-coil domain of MURC/cavin-4 is involved in membrane
            trafficking of caveolin-3 in cardiomyocytes
  JOURNAL   Am J Physiol Heart Circ Physiol 309 (12), H2127-H2136 (2015)
   PUBMED   26497963
REFERENCE   3  (bases 1 to 3098)
  AUTHORS   Faggi F, Codenotti S, Poliani PL, Cominelli M, Chiarelli N, Colombi
            M, Vezzoli M, Monti E, Bono F, Tulipano G, Fiorentini C, Zanola A,
            Lo HP, Parton RG, Keller C and Fanzani A.
  TITLE     MURC/cavin-4 Is Co-Expressed with Caveolin-3 in Rhabdomyosarcoma
            Tumors and Its Silencing Prevents Myogenic Differentiation in the
            Human Embryonal RD Cell Line
  JOURNAL   PLoS One 10 (6), e0130287 (2015)
   PUBMED   26086601
  REMARK    GeneRIF: MURC/cavin-4, especially in combination with Cav-3, may
            play a consistent role in the differentiation process of
            rhabdomyosarcoma. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3098)
  AUTHORS   Chouraki V, De Bruijn RF, Chapuis J, Bis JC, Reitz C, Schraen S,
            Ibrahim-Verbaas CA, Grenier-Boley B, Delay C, Rogers R, Demiautte F,
            Mounier A, Fitzpatrick AL, Berr C, Dartigues JF, Uitterlinden AG,
            Hofman A, Breteler M, Becker JT, Lathrop M, Schupf N, Alperovitch A,
            Mayeux R, van Duijn CM, Buee L, Amouyel P, Lopez OL, Ikram MA,
            Tzourio C and Lambert JC.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     A genome-wide association meta-analysis of plasma Abeta peptides
            concentrations in the elderly
  JOURNAL   Mol Psychiatry 19 (12), 1326-1335 (2014)
   PUBMED   24535457
REFERENCE   5  (bases 1 to 3098)
  AUTHORS   Ogata T, Naito D, Nakanishi N, Hayashi YK, Taniguchi T, Miyagawa K,
            Hamaoka T, Maruyama N, Matoba S, Ikeda K, Yamada H, Oh H and Ueyama
            T.
  TITLE     MURC/Cavin-4 facilitates recruitment of ERK to caveolae and
            concentric cardiac hypertrophy induced by alpha1-adrenergic
            receptors
  JOURNAL   Proc Natl Acad Sci U S A 111 (10), 3811-3816 (2014)
   PUBMED   24567387
REFERENCE   6  (bases 1 to 3098)
  AUTHORS   Rodriguez G, Ueyama T, Ogata T, Czernuszewicz G, Tan Y, Dorn GW 2nd,
            Bogaev R, Amano K, Oh H, Matsubara H, Willerson JT and Marian AJ.
  TITLE     Molecular genetic and functional characterization implicate
            muscle-restricted coiled-coil gene (MURC) as a causal gene for
            familial dilated cardiomyopathy
  JOURNAL   Circ Cardiovasc Genet 4 (4), 349-358 (2011)
   PUBMED   21642240
  REMARK    GeneRIF: MURC mutations impart loss-of-function effects on MURC
            functions and probably are causal variants in human dilated
            cardiomyopathy
REFERENCE   7  (bases 1 to 3098)
  AUTHORS   Hansen CG, Bright NA, Howard G and Nichols BJ.
  TITLE     SDPR induces membrane curvature and functions in the formation of
            caveolae
  JOURNAL   Nat Cell Biol 11 (7), 807-814 (2009)
   PUBMED   19525939
REFERENCE   8  (bases 1 to 3098)
  AUTHORS   Bastiani M, Liu L, Hill MM, Jedrychowski MP, Nixon SJ, Lo HP,
            Abankwa D, Luetterforst R, Fernandez-Rojo M, Breen MR, Gygi SP,
            Vinten J, Walser PJ, North KN, Hancock JF, Pilch PF and Parton RG.
  TITLE     MURC/Cavin-4 and cavin family members form tissue-specific caveolar
            complexes
  JOURNAL   J Cell Biol 185 (7), 1259-1273 (2009)
   PUBMED   19546242
REFERENCE   9  (bases 1 to 3098)
  AUTHORS   Tagawa M, Ueyama T, Ogata T, Takehara N, Nakajima N, Isodono K,
            Asada S, Takahashi T, Matsubara H and Oh H.
  TITLE     MURC, a muscle-restricted coiled-coil protein, is involved in the
            regulation of skeletal myogenesis
  JOURNAL   Am J Physiol Cell Physiol 295 (2), C490-C498 (2008)
   PUBMED   18508909
REFERENCE   10  (bases 1 to 3098)
  AUTHORS   Ogata T, Ueyama T, Isodono K, Tagawa M, Takehara N, Kawashima T,
            Harada K, Takahashi T, Shioi T, Matsubara H and Oh H.
  TITLE     MURC, a muscle-restricted coiled-coil protein that modulates the
            Rho/ROCK pathway, induces cardiac dysfunction and conduction
            disturbance
  JOURNAL   Mol Cell Biol 28 (10), 3424-3436 (2008)
   PUBMED   18332105
  REMARK    GeneRIF: MURC modulates RhoA signaling, and MURC plays an important
            role in the development of cardiac dysfunction and conduction
            disturbance with increased vulnerability to atrial arrhythmias.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK300099.1, BC090888.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000307584.6/ ENSP00000418668.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK300099.1, BC090888.1,
            EU487253.1, AL354917.8 and AA446953.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 26, 2013 this sequence version replaced NM_001018116.1.
            Summary: This gene encodes a protein containing two coiled-coil
            regions. The encoded protein promotes Rho/ROCK (Rho-kinase)
            signaling in cardiac muscles cells, and may facilitate myofibrillar
            organization. [provided by RefSeq, Jun 2013].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..3098
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..3098
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="caveolae associated protein 4"
                     /db_xref="GeneID:347273"
                     /db_xref="HGNC:HGNC:33742"
                     /db_xref="MIM:617714"
     misc_feature    51..53
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="upstream in-frame stop codon"
     CDS             66..1160
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="muscle-restricted coiled-coil protein; muscle
                     related coiled-coil protein"
                     /codon_start=1
                     /product="caveolae-associated protein 4"
                     /protein_id="NP_001018126.1"
                     /db_xref="CCDS:CCDS35083.1"
                     /db_xref="GeneID:347273"
                     /db_xref="HGNC:HGNC:33742"
                     /db_xref="MIM:617714"
                     /translation="MEHNGSASNADKIHQNRLSSVTEDEDQDAALTIVTVLDKVASIVD
                     SVQASQKRIEERHREMENAIKSVQIDLLKLSQSHSNTGHIINKLFEKTRKVSAHIKDVK
                     ARVEKQQIHVKKVEVKQEEIMKKNKFRVVIFQEKFRCPTSLSVVKDRNLTENQEEDDDD
                     IFDPPVDLSSDEEYYVEESRSARLRKSGKEHIDNIKKAFSKENMQKTRQNLDKKVNRIR
                     TRIVTPERRERLRQSGERLRQSGERLRQSGERFKKSISNAAPSKEAFKMRSLRKGKDRT
                     VAEGEECAREMGVDIIARSESLGPISELYSDELSEPEHEAARPVYPPHEGREIPTPEPL
                     KVTFKSQVKVEDDESLLLDLKHSS"
     misc_feature    66..137
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BKX8.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    579..581
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B1PRL5; propagated from
                     UniProtKB/Swiss-Prot (Q5BKX8.2); phosphorylation site"
     misc_feature    582..584
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B1PRL5; propagated from
                     UniProtKB/Swiss-Prot (Q5BKX8.2); phosphorylation site"
     misc_feature    756..914
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BKX8.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    996..1082
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BKX8.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1041..1043
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:A2AMM0; propagated from
                     UniProtKB/Swiss-Prot (Q5BKX8.2); phosphorylation site"
     misc_feature    1071..1073
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:A2AMM0; propagated from
                     UniProtKB/Swiss-Prot (Q5BKX8.2); phosphorylation site"
     misc_feature    1128..1130
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A2AMM0; propagated from
                     UniProtKB/Swiss-Prot (Q5BKX8.2); phosphorylation site"
     regulatory      1299..1304
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="hexamer: TATAAA"
     polyA_site      1320
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
     regulatory      3077..3082
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="hexamer: AATAAA"
     polyA_site      3098
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="major polyA site"
ORIGIN
        1 gactttttgc tccaagtgcc agaattgatt gtggttagga catcttacgc tgagaaataa
       61 ataaaatgga acataatggg tctgcttcaa atgctgataa aatccaccag aatcgcctgt
      121 cgagtgttac agaagatgaa gaccaagacg ctgctcttac cattgtgact gtgctggaca
      181 aagtagcctc catcgtggac agtgtgcagg caagccagaa gagaatagaa gagagacaca
      241 gggaaatgga aaatgccata aaatccgtcc agattgacct gttgaagctt tcacagtcgc
      301 atagcaatac agggcatatc attaacaaat tgtttgagaa aacccgaaaa gttagtgctc
      361 acattaaaga tgtgaaagcc cgggtggaga agcaacaaat tcatgttaaa aaagttgaag
      421 tcaagcaaga ggaaataatg aagaaaaaca aattccgcgt ggtaatattc caggagaagt
      481 ttcggtgtcc gacatccctg tctgttgtta aagacagaaa cctaactgag aaccaagaag
      541 aggatgatga tgatatcttt gatcccccag tagatctgtc ttcggatgaa gaatattatg
      601 ttgaagaaag cagatctgcc aggcttagga agtcaggcaa ggagcacatt gataatatca
      661 agaaggcatt ttccaaagaa aacatgcaga agacacggca gaatcttgac aagaaagtga
      721 acagaattag aactagaata gtgaccccgg agaggagaga gaggctaagg cagtcaggag
      781 agaggctgag acagtcaggg gagaggctga gacagtcagg ggagaggttt aagaaatcta
      841 tttctaatgc agctccctca aaggaagctt ttaagatgcg cagcctcagg aaaggtaagg
      901 accgaacagt ggctgaaggt gaggaatgtg ccagggagat gggtgtggac atcattgcca
      961 ggagcgagtc tctgggcccc atcagtgagc tctactctga tgagctcagt gaaccagaac
     1021 acgaggcagc caggccggtg tatcctcccc atgaaggaag ggaaatcccc acccccgagc
     1081 ctttaaaagt tacttttaaa tctcaggtga aagtagagga tgatgaatct cttttgttag
     1141 atttaaagca ctcatcgtaa agaggaatta agtatatcct aaatatgaat ctcctaatca
     1201 tgcagtttta gtttgaatag tgtagtcgtc tacatttctg tgccatgtag gaaaacataa
     1261 atgtattttt tttcttatat ttaaaatctt gaagataata taaatattat tatcactctt
     1321 tctcatggca gctgtggatt ttttagttcc tttctcttgt ccaccagaaa aatagtttcc
     1381 taggttgggc cagttacgtg tttggtaagg gcaactttgc ggccgtcatt tgcaggagaa
     1441 ctctaaatat tggttaggat taatattgtg gccagcctca aaggggaata actcatgtgt
     1501 gggttatatc gtccagatgt tcagatcaac agatttgtta gtaaattagc agtcacaccc
     1561 cttttttgat gctttcacat taaaaaattg aagttttgga cttgagcatt tggctctagt
     1621 atcatagctt tacttataag aaaaccctgg gcaagtcatc tgcttattct catcagtaaa
     1681 aatggagagg gttggcctct gctgcctgcc tcagaggact gttgtgatga tcaaaggaaa
     1741 tggtacacat tctgggggaa caagaagcac acccagagaa aacaagcctc atcagttcct
     1801 ccaaaacaga atggaaagag ttacaccttc tgaaaaagcc ctcagcacca atcaataagg
     1861 tcctaggttg gagagaaact aaagctggtc ttcagaagcc ttttcacaga atcaagagtg
     1921 aaaaataagt aaatgtttgg gtgaccactt tttcatcaga ctaactatat cttgggtttt
     1981 agttgggtct caaaatgttc cccagccaga ccctttctaa tttccttttg attaagatct
     2041 ttggtggact atagcactaa atttgtttaa gcagtatgag gcataaaatt gtgactatgt
     2101 ttctaaagtc ggccctgatg cattgggttt ggaaatgacc acaaatattc ctgttttcct
     2161 gagtgtaccc ttcagggtcc agctgtccaa aacagtgttg ataggagttc atcatagctg
     2221 ctttgggagg aagccagatt ctccttatct tttagcttta gatcgtggaa tccaggaagt
     2281 agaacaatgt ctattgttgc taaagaaaga aagaaatggg ccgggtgtgg tggctcacgg
     2341 ggagtaatcc cagcactttg cgaggccgag gtgggtgaat cacctgaggt cagaagttca
     2401 cgaccagcct gaccaacatg gcgaaaccct gactctactg aaaatacaaa aattagctgg
     2461 gcatggtggc atgcgcctgt cccagctact caggaggctg agacaggaga attgcctgaa
     2521 cccaggaggc ggaggttgca gtgagccgag attgtgccac tgcactcaag cctgggcaaa
     2581 agagccagac tctgtttcaa aaaaaaagaa aaaaagaaaa gaaagaaatg gtagtactga
     2641 ttctgtactt gaaggatgtt taatgtagca tggtgttgta atagagaaga aatgatgaaa
     2701 ttgttgaatt tgaagagttg ggacaacgat cagctatccc actttttttc tcactttcag
     2761 atcagttttt ggataatcat atggtagtta aaataataag tgtacacata tacacacagg
     2821 catacataaa tcggctttaa aatatttgac tcagttactc agatgtttgg gtttgggagt
     2881 ctgattcagc atcatttcct cttcaccttg catgaataca tgaaatcata atatcgttca
     2941 tgttgttacc tttttatatt gaaaactaaa gtgtatacaa cattggataa cactttcaaa
     3001 tgaataattt taaaatgttt ttatgacatt ttggaaagat cttgggtgcc taatcacata
     3061 ttttcttaag aaccataata aatttgaatt taagaaaa
//
LOCUS       NM_001019               2203 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S15a (RPS15A), transcript variant 2,
            mRNA.
ACCESSION   NM_001019
VERSION     NM_001019.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2203)
  AUTHORS   Natani S, Ramakrishna M, Nallavolu T and Ummanni R.
  TITLE     MicroRNA-147b induces neuroendocrine differentiation of prostate
            cancer cells by targeting ribosomal protein RPS15A
  JOURNAL   Prostate 83 (10), 936-949 (2023)
   PUBMED   37069746
  REMARK    GeneRIF: MicroRNA-147b induces neuroendocrine differentiation of
            prostate cancer cells by targeting ribosomal protein RPS15A.
REFERENCE   2  (bases 1 to 2203)
  AUTHORS   Yang H, Li M and Qi Y.
  TITLE     FOXN3 inhibits the progression of ovarian cancer through negatively
            regulating the expression of RPS15A
  JOURNAL   Hum Cell 36 (3), 1120-1134 (2023)
   PUBMED   37016167
  REMARK    GeneRIF: FOXN3 inhibits the progression of ovarian cancer through
            negatively regulating the expression of RPS15A.
REFERENCE   3  (bases 1 to 2203)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   4  (bases 1 to 2203)
  AUTHORS   Wan BS, Wang XY, Tiang J, Zhou C, Lin J and Wang Z.
  TITLE     Ribosomal protein RPS15A augments proliferation of colorectal cancer
            RKO cells via regulation of BIRC3, p38 MAPK and Chk1
  JOURNAL   Eur Rev Med Pharmacol Sci 25 (11), 3967-3980 (2021)
   PUBMED   34156695
  REMARK    GeneRIF: Ribosomal protein RPS15A augments proliferation of
            colorectal cancer RKO cells via regulation of BIRC3, p38 MAPK and
            Chk1.
REFERENCE   5  (bases 1 to 2203)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 2203)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   7  (bases 1 to 2203)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   8  (bases 1 to 2203)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 2203)
  AUTHORS   Chan YL, Olvera J, Paz V and Wool IG.
  TITLE     The primary structure of rat ribosomal protein S15a
  JOURNAL   Biochem Biophys Res Commun 200 (3), 1498-1504 (1994)
   PUBMED   8185605
REFERENCE   10  (bases 1 to 2203)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301769
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK291988.1, SRR3476690.797572.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000322989.8/ ENSP00000318646.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BF678907.1, BC001697.2 and AC138811.3.
            On Nov 22, 2018 this sequence version replaced NM_001019.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S8P family of ribosomal proteins. It is located in the
            cytoplasm. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) is the longest transcript and
            utilizes an alternate splice site on the 5'-terminal exon, compared
            to variant 1. Variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2203
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.3"
     gene            1..2203
                     /gene="RPS15A"
                     /gene_synonym="DBA20; S15a; uS8"
                     /note="ribosomal protein S15a"
                     /db_xref="GeneID:6210"
                     /db_xref="HGNC:HGNC:10389"
                     /db_xref="MIM:603674"
     misc_feature    1
                     /gene="RPS15A"
                     /gene_synonym="DBA20; S15a; uS8"
                     /note="predominant transcription initiation site"
     misc_feature    88..90
                     /gene="RPS15A"
                     /gene_synonym="DBA20; S15a; uS8"
                     /note="upstream in-frame stop codon"
     CDS             97..489
                     /gene="RPS15A"
                     /gene_synonym="DBA20; S15a; uS8"
                     /EC_number="3.6.5.3"
                     /note="40S ribosomal protein S15a; up-regulated by HBV X
                     protein"
                     /codon_start=1
                     /product="small ribosomal subunit protein uS8"
                     /protein_id="NP_001010.2"
                     /db_xref="CCDS:CCDS10571.1"
                     /db_xref="GeneID:6210"
                     /db_xref="HGNC:HGNC:10389"
                     /db_xref="MIM:603674"
                     /translation="MVRMNVLADALKSINNAEKRGKRQVLIRPCSKVIVRFLTVMMKHG
                     YIGEFEIIDDHRAGKIVVNLTGRLNKCGVISPRFDVQLKDLEKWQNNLLPSRQFGFIVL
                     TTSAGIMDHEEARRKHTGGKILGFFF"
     regulatory      512..517
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS15A"
                     /gene_synonym="DBA20; S15a; uS8"
                     /note="hexamer: AATAAA"
     polyA_site      543
                     /gene="RPS15A"
                     /gene_synonym="DBA20; S15a; uS8"
                     /note="major polyA site"
     polyA_site      564
                     /gene="RPS15A"
                     /gene_synonym="DBA20; S15a; uS8"
     regulatory      2181..2186
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS15A"
                     /gene_synonym="DBA20; S15a; uS8"
                     /note="hexamer: AATAAA"
     polyA_site      2203
                     /gene="RPS15A"
                     /gene_synonym="DBA20; S15a; uS8"
ORIGIN
        1 ctctttccgc catctttccg cgccggtgag tagcactctc tgagagctcc aatttcatcc
       61 gtctgccatc ggcgccatcc tgcaatctaa gccacaatgg tgcgcatgaa tgtcctggca
      121 gatgctctca agagtatcaa caatgccgaa aagagaggca aacgccaggt gcttattagg
      181 ccgtgctcca aagtcatcgt ccggtttctc actgtgatga tgaagcatgg ttacattggc
      241 gaatttgaaa tcattgatga ccacagagct gggaaaattg ttgtgaacct cacaggcagg
      301 ctaaacaagt gtggggtgat cagccccaga tttgacgtgc aactcaaaga cctggaaaaa
      361 tggcagaata atctgcttcc atcccgccag tttggtttca ttgtactgac aacctcagct
      421 ggcatcatgg accatgaaga agcaagacga aaacacacag gagggaaaat cctgggattc
      481 tttttctagg gatgtaatac atatatttac aaataaaatg cctcatggac tctggtgctt
      541 ccacttggtc gttttgagcc tttacagcag tgtagccaca gcttctgcgg cagcatgcag
      601 ttgcttcgtt tatcggtgaa tgcgattccc tgaagtgact aatacagcca agggaaaaag
      661 ttcttatgaa accagtatgc ctaagaaaca gtcacccctg ctgtctgcca aaaccaggta
      721 tttgacacta aatattttag ttgtatttca gttttttttt ttttttttct tttttggaga
      781 cagagtctga ctctattgct caggctggag tgcagtggcg cgatcttggc ccactgcaac
      841 ctccacctcc cgggttcaag tgattgtcct gtctcagccg cctgagtaac tgggattaca
      901 agtgtgtgtc gccacatccg gctaattttt atattttagt agagacaggg tttcgccatg
      961 ttgcccaggc tggtcttgag ttctgggcct caagtgatca gcctacctcg gcctcccgaa
     1021 gtgctgggat tacagccacg agccattaca cctggcctat atttcagtat tttctattag
     1081 tttttgatga atttgttttg cctggctagg attattctgt agataggatt ttagatctgg
     1141 cttttgtcac tgactgctgt aataaatact tgctaggaat tttttttttt tttttttttt
     1201 ttttaagaca aagtcgctct gtcacacagg ctggagtgca gtggcatgat cttggctcac
     1261 tgcacctccg cttcccagat tcaagtagtt ctcgtgcctc agcctcctga gtagctggga
     1321 ttacaggtgt gtgccaccat gtctggctga tttttgtatt tttagtagag gtggggtttc
     1381 accatgttgg ccaggctggt ctcgaactcc tgatctcaag tgatctgcct gccttggtct
     1441 cccaaagtgc tgggattaca ggtgtgacca ccacgccctg ccttaagaat tgttccaaga
     1501 gaatctggtg ccacttgcag gtgcccattg aagtgcaatg ggcactgttg atcactgagg
     1561 aggtagtggg tgctgacccg gtgctggggc ctgtccccta gtctctgctt tgcccttggc
     1621 tagctaggtg gtgtgccaag tggggagaga agctacctta ttaaggggca tggatcagct
     1681 tcctgaaagg agggcctgcc tctgtaagat atgggaagtc gctgagaatg ttacagaacg
     1741 gccctagaga tggggcagat aacggccccc atttgtgaga agtgagttgg gaggcatgtt
     1801 tggggcctct gatgtttggg aggctgtggg taattaacat gagttttggg gtccagcagc
     1861 agaattcagg tttcctcttc cactcagtaa cctcagcatc cgtatctgta atgggaatga
     1921 tacaaaacct atccccaagt tgagggaaaa atgagattgt gtaaagcgca cttggcacat
     1981 gacagtcaca agcatgggga cagtgagtcc agaaggattt tcttatgcca gcattgtaag
     2041 ccctaggatc acagggctct ggcttgttta accatcgtgt ctctggtccc tagcctgcaa
     2101 acctggtgtg tagggatgcc tcagtcgctt acatgttgat tgagtgaatc gtcggtttct
     2161 ttctggacac tgacttcaaa aataaaatag gatatgaaaa tgg
//
LOCUS       NM_001020                631 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S16 (RPS16), transcript variant 1,
            mRNA.
ACCESSION   NM_001020
VERSION     NM_001020.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 631)
  AUTHORS   Wu W, Wang C, Xia C, Liu S and Mei Q.
  TITLE     MicroRNA let-7 Suppresses Influenza A Virus Infection by Targeting
            RPS16 and Enhancing Type I Interferon Response
  JOURNAL   Front Cell Infect Microbiol 12, 904775 (2022)
   PUBMED   35873150
  REMARK    GeneRIF: MicroRNA let-7 Suppresses Influenza A Virus Infection by
            Targeting RPS16 and Enhancing Type I Interferon Response.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 631)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   3  (bases 1 to 631)
  AUTHORS   Liao Y, Shao Z, Liu Y, Xia X, Deng Y, Yu C, Sun W, Kong W, He X, Liu
            F, Guo Z, Chen G, Tang D, Gan H, Liu J and Huang H.
  TITLE     USP1-dependent RPS16 protein stability drives growth and metastasis
            of human hepatocellular carcinoma cells
  JOURNAL   J Exp Clin Cancer Res 40 (1), 201 (2021)
   PUBMED   34154657
  REMARK    GeneRIF: USP1-dependent RPS16 protein stability drives growth and
            metastasis of human hepatocellular carcinoma cells. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 631)
  AUTHORS   Lee JH, Han JH, Kim H, Park SM, Joe EH and Jou I.
  TITLE     Parkinson's disease-associated LRRK2-G2019S mutant acts through
            regulation of SERCA activity to control ER stress in astrocytes
  JOURNAL   Acta Neuropathol Commun 7 (1), 68 (2019)
   PUBMED   31046837
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 631)
  AUTHORS   Reza AMMT, Choi YJ, Yuan YG, Das J, Yasuda H and Kim JH.
  TITLE     MicroRNA-7641 is a regulator of ribosomal proteins and a promising
            targeting factor to improve the efficacy of cancer therapy
  JOURNAL   Sci Rep 7 (1), 8365 (2017)
   PUBMED   28827731
  REMARK    GeneRIF: These data confirmed RPS16 and TNFSF10 as two direct
            targets of miR-7641, while gene expression study showed that a group
            of genes are also deregulated by miR-7641, including many ribosomal
            proteins that are frequently co-expressed with RPS16 in breast
            cancer. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 631)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   7  (bases 1 to 631)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   8  (bases 1 to 631)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 631)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   10  (bases 1 to 631)
  AUTHORS   Batra SK, Metzgar RS and Hollingsworth MA.
  TITLE     Molecular cloning and sequence analysis of the human ribosomal
            protein S16
  JOURNAL   J Biol Chem 266 (11), 6830-6833 (1991)
   PUBMED   2016298
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.380039.1, CD176907.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000251453.8/ ENSP00000251453.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AC011500.7, AK315498.1 and AA890305.1.
            On Nov 23, 2018 this sequence version replaced NM_001020.5.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S9P family of ribosomal proteins. It is located in the
            cytoplasm. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..631
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..631
                     /gene="RPS16"
                     /gene_synonym="S16; uS9"
                     /note="ribosomal protein S16"
                     /db_xref="GeneID:6217"
                     /db_xref="HGNC:HGNC:10396"
                     /db_xref="MIM:603675"
     misc_feature    37..39
                     /gene="RPS16"
                     /gene_synonym="S16; uS9"
                     /note="upstream in-frame stop codon"
     CDS             55..495
                     /gene="RPS16"
                     /gene_synonym="S16; uS9"
                     /note="isoform 1 is encoded by transcript variant 1; 40S
                     ribosomal protein S16; small ribosomal subunit protein uS9"
                     /codon_start=1
                     /product="small ribosomal subunit protein uS9 isoform 1"
                     /protein_id="NP_001011.1"
                     /db_xref="CCDS:CCDS12535.1"
                     /db_xref="GeneID:6217"
                     /db_xref="HGNC:HGNC:10396"
                     /db_xref="MIM:603675"
                     /translation="MPSKGPLQSVQVFGRKKTATAVAHCKRGNGLIKVNGRPLEMIEPR
                     TLQYKLLEPVLLLGKERFAGVDIRVRVKGGGHVAQIYAIRQSISKALVAYYQKYVDEAS
                     KKEIKDILIQYDRTLLVADPRRCESKKFGGPGARARYQKSYR"
     misc_feature    61..63
                     /gene="RPS16"
                     /gene_synonym="S16; uS9"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P62249.2); phosphorylation site"
     misc_feature    232..234
                     /gene="RPS16"
                     /gene_synonym="S16; uS9"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62249.2); acetylation site"
     regulatory      525..530
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS16"
                     /gene_synonym="S16; uS9"
                     /note="hexamer: AATAAA"
     polyA_site      558
                     /gene="RPS16"
                     /gene_synonym="S16; uS9"
                     /note="major polyA site"
     regulatory      612..617
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS16"
                     /gene_synonym="S16; uS9"
                     /note="hexamer: AGTAAA"
     polyA_site      631
                     /gene="RPS16"
                     /gene_synonym="S16; uS9"
ORIGIN
        1 ccttttccgg ttgcggcgcc gcgcggtgag gttgtctagt ccacgctcgg agccatgccg
       61 tccaagggcc cgctgcagtc tgtgcaggtc ttcggacgca agaagacagc gacagctgtg
      121 gcgcactgca aacgcggcaa tggtctcatc aaggtgaacg ggcggcccct ggagatgatt
      181 gagccgcgca cgctacagta caagctgctg gagccagttc tgcttctcgg caaggagcga
      241 tttgctggtg tagacatccg tgtccgtgta aagggtggtg gtcacgtggc ccagatttat
      301 gctatccgtc agtccatctc caaagccctg gtggcctatt accagaaata tgtggatgag
      361 gcttccaaga aggagatcaa agacatcctc atccagtatg accggaccct gctggtagct
      421 gaccctcgtc gctgcgagtc caaaaagttt ggaggccctg gtgcccgcgc tcgctaccag
      481 aaatcctacc gataagccca tcgtgactca aaactcactt gtataataaa cagtttttga
      541 gggattttaa agtttcaaga actgtgtgtg gccttatgtg ttggtattgg atgtttaacc
      601 agacagaaat cagtaaacat cctggaccta t
//
LOCUS       NM_001020658            5385 bp    mRNA    linear   PRI 09-JUL-2023
DEFINITION  Homo sapiens pumilio RNA binding family member 1 (PUM1), transcript
            variant 1, mRNA.
ACCESSION   NM_001020658
VERSION     NM_001020658.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5385)
  AUTHORS   Elagooz R, Dhara AR, Gott RM, Adams SE, White RA, Ghosh A, Ganguly
            S, Man Y, Owusu-Ansah A, Mian OY, Gurkan UA, Komar AA, Ramamoorthy M
            and Gnanapragasam MN.
  TITLE     PUM1 mediates the posttranscriptional regulation of human fetal
            hemoglobin
  JOURNAL   Blood Adv 6 (23), 6016-6022 (2022)
   PUBMED   35667093
  REMARK    GeneRIF: PUM1 mediates the posttranscriptional regulation of human
            fetal hemoglobin.
REFERENCE   2  (bases 1 to 5385)
  AUTHORS   Rajasekaran S, Khan E, Ching SR, Khan M, Siddiqui JK, Gradia DF, Lin
            C, Bouley SJ, Mercadante DL, Manning AL, Gerber AP, Walker JA and
            Miles WO.
  TITLE     PUMILIO competes with AUF1 to control DICER1 RNA levels and miRNA
            processing
  JOURNAL   Nucleic Acids Res 50 (12), 7048-7066 (2022)
   PUBMED   35736218
  REMARK    GeneRIF: PUMILIO competes with AUF1 to control DICER1 RNA levels and
            miRNA processing.
REFERENCE   3  (bases 1 to 5385)
  AUTHORS   Yoon DS, Lee KM, Choi Y, Ko EA, Lee NH, Cho S, Park KH, Lee JH, Kim
            HW and Lee JW.
  TITLE     TLR4 downregulation by the RNA-binding protein PUM1 alleviates
            cellular aging and osteoarthritis
  JOURNAL   Cell Death Differ 29 (7), 1364-1378 (2022)
   PUBMED   35034101
  REMARK    GeneRIF: TLR4 downregulation by the RNA-binding protein PUM1
            alleviates cellular aging and osteoarthritis. Erratum:[Cell Death
            Differ. 2022 Feb 21;:. PMID: 35190709]
REFERENCE   4  (bases 1 to 5385)
  AUTHORS   Li X, Zhu M, Zang M, Cao D, Xie Z, Liang H, Bian Z, Zhao T, Hu Z and
            Xu EY.
  TITLE     PUMILIO-mediated translational control of somatic cell cycle program
            promotes folliculogenesis and contributes to ovarian cancer
            progression
  JOURNAL   Cell Mol Life Sci 79 (5), 279 (2022)
   PUBMED   35507203
  REMARK    GeneRIF: PUMILIO-mediated translational control of somatic cell
            cycle program promotes folliculogenesis and contributes to ovarian
            cancer progression. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5385)
  AUTHORS   Wang Y, Sun L, Wang L, Yu H, Yu X and Zou Y.
  TITLE     PUM1 modulates trophoblast cell proliferation and migration through
            LRP6
  JOURNAL   Biochem Cell Biol 99 (6), 735-740 (2021)
   PUBMED   34734756
  REMARK    GeneRIF: PUM1 modulates trophoblast cell proliferation and migration
            through LRP6.
REFERENCE   6  (bases 1 to 5385)
  AUTHORS   Wang X, McLachlan J, Zamore PD and Hall TM.
  TITLE     Modular recognition of RNA by a human pumilio-homology domain
  JOURNAL   Cell 110 (4), 501-512 (2002)
   PUBMED   12202039
REFERENCE   7  (bases 1 to 5385)
  AUTHORS   Wang X, Zamore PD and Hall TM.
  TITLE     Crystal structure of a Pumilio homology domain
  JOURNAL   Mol Cell 7 (4), 855-865 (2001)
   PUBMED   11336708
REFERENCE   8  (bases 1 to 5385)
  AUTHORS   Kirchhausen T.
  TITLE     Three ways to make a vesicle
  JOURNAL   Nat Rev Mol Cell Biol 1 (3), 187-198 (2000)
   PUBMED   11252894
  REMARK    Review article Erratum:[Nat Rev Mol Cell Biol 2001 Mar;2(3):216]
REFERENCE   9  (bases 1 to 5385)
  AUTHORS   Lippincott-Schwartz J, Roberts TH and Hirschberg K.
  TITLE     Secretory protein trafficking and organelle dynamics in living cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
REFERENCE   10  (bases 1 to 5385)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301317
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK222605.1, SRR1803617.118284.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000426105.7/ ENSP00000391723.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL699026.1, AK222605.1,
            AF315592.1 and CN402209.1.
            On Jun 2, 2019 this sequence version replaced NM_001020658.1.
            Summary: This gene encodes a member of the PUF family,
            evolutionarily conserved RNA-binding proteins related to the
            Pumilio proteins of Drosophila and the fem-3 mRNA binding factor
            proteins of C. elegans. The encoded protein contains a
            sequence-specific RNA binding domain comprised of eight repeats and
            N- and C-terminal flanking regions, and serves as a translational
            regulator of specific mRNAs by binding to their 3' untranslated
            regions. The evolutionarily conserved function of the encoded
            protein in invertebrates and lower vertebrates suggests that the
            human protein may be involved in translational regulation of
            embryogenesis, and cell development and differentiation.
            Alternatively spliced transcript variants encoding different
            isoforms have been described. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5385
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.2"
     gene            1..5385
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="pumilio RNA binding family member 1"
                     /db_xref="GeneID:9698"
                     /db_xref="HGNC:HGNC:14957"
                     /db_xref="MIM:607204"
     misc_feature    72..74
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="upstream in-frame stop codon"
     CDS             114..3680
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="isoform 1 is encoded by transcript variant 1;
                     pumilio-1; pumilio homolog 1"
                     /codon_start=1
                     /product="pumilio homolog 1 isoform 1"
                     /protein_id="NP_001018494.1"
                     /db_xref="CCDS:CCDS44099.1"
                     /db_xref="GeneID:9698"
                     /db_xref="HGNC:HGNC:14957"
                     /db_xref="MIM:607204"
                     /translation="MSVACVLKRKAVLWQDSFSPHLKHHPQEPANPNMPVVLTSGTGSQ
                     AQPQPAANQALAAGTHSSPVPGSIGVAGRSQDDAMVDYFFQRQHGEQLGGGGSGGGGYN
                     NSKHRWPTGDNIHAEHQVRSMDELNHDFQALALEGRAMGEQLLPGKKFWETDESSKDGP
                     KGIFLGDQWRDSAWGTSDHSVSQPIMVQRRPGQSFHVNSEVNSVLSPRSESGGLGVSMV
                     EYVLSSSPGDSCLRKGGFGPRDADSDENDKGEKKNKGTFDGDKLGDLKEEGDVMDKTNG
                     LPVQNGIDADVKDFSRTPGNCQNSANEVDLLGPNQNGSEGLAQLTSTNGAKPVEDFSNM
                     ESQSVPLDPMEHVGMEPLQFDYSGTQVPVDSAAATVGLFDYNSQQQLFQRPNALAVQQL
                     TAAQQQQYALAAAHQPHIGLAPAAFVPNPYIISAAPPGTDPYTAGLAAAATLGPAVVPH
                     QYYGVTPWGVYPASLFQQQAAAAAAATNSANQQTTPQAQQGQQQVLRGGASQRPLTPNQ
                     NQQGQQTDPLVAAAAVNSALAFGQGLAAGMPGYPVLAPAAYYDQTGALVVNAGARNGLG
                     APVRLVAPAPVIISSSAAQAAVAAAAASANGAAGGLAGTTNGPFRPLGTQQPQPQPQQQ
                     PNNNLASSSFYGNNSLNSNSQSSSLFSQGSAQPANTSLGFGSSSSLGATLGSALGGFGT
                     AVANSNTGSGSRRDSLTGSSDLYKRTSSSLTPIGHSFYNGLSFSSSPGPVGMPLPSQGP
                     GHSQTPPPSLSSHGSSSSLNLGGLTNGSGRYISAAPGAEAKYRSASSASSLFSPSSTLF
                     SSSRLRYGMSDVMPSGRSRLLEDFRNNRYPNLQLREIAGHIMEFSQDQHGSRFIQLKLE
                     RATPAERQLVFNEILQAAYQLMVDVFGNYVIQKFFEFGSLEQKLALAERIRGHVLSLAL
                     QMYGCRVIQKALEFIPSDQQVINEMVRELDGHVLKCVKDQNGNHVVQKCIECVQPQSLQ
                     FIIDAFKGQVFALSTHPYGCRVIQRILEHCLPDQTLPILEELHQHTEQLVQDQYGNYVI
                     QHVLEHGRPEDKSKIVAEIRGNVLVLSQHKFASNVVEKCVTHASRTERAVLIDEVCTMN
                     DGPHSALYTMMKDQYANYVVQKMIDVAEPGQRKIVMHKIRPHIATLRKYTYGKHILAKL
                     EKYYMKNGVDLGPICGPPNGII"
     misc_feature    117..119
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); acetylation site"
     misc_feature    168..170
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); phosphorylation site"
     misc_feature    177..332
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    336..338
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); phosphorylation site"
     misc_feature    405..407
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); phosphorylation site"
     misc_feature    429..431
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); phosphorylation site"
     misc_feature    447..449
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); phosphorylation site"
     misc_feature    483..485
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); phosphorylation site"
     misc_feature    588..590
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); phosphorylation site"
     misc_feature    702..704
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); phosphorylation site"
     misc_feature    738..740
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:20818387,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); phosphorylation site"
     misc_feature    798..800
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); phosphorylation site"
     misc_feature    810..929
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1026..1028
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8TB72; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); phosphorylation site"
     misc_feature    1566..1685
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1653..1655
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8TB72; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); phosphorylation site"
     misc_feature    1950..2057
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2238..2240
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     phosphorylation site"
     misc_feature    2253..2255
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:20818387; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); phosphorylation site"
     misc_feature    2337..2432
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2499..2501
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); methylation site"
     misc_feature    2529..2531
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); phosphorylation site"
     misc_feature    2577..2579
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14671.3); phosphorylation site"
     misc_feature    2655..2762
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Pumilio 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00317,
                     ECO:0000269|PubMed:21397187"
     misc_feature    2700..2714
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Adenine-nucleotide binding in RNA target.
                     /evidence=ECO:0000269|PubMed:18328718"
     misc_feature    2763..2870
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Pumilio 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00317,
                     ECO:0000269|PubMed:21397187"
     misc_feature    2808..2822
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Uracil-nucleotide binding in RNA target.
                     /evidence=ECO:0000269|PubMed:18328718"
     misc_feature    2916..2930
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Adenine-nucleotide binding in RNA target.
                     /evidence=ECO:0000269|PubMed:18328718"
     misc_feature    2985..3092
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Pumilio 4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00317,
                     ECO:0000269|PubMed:21397187"
     misc_feature    3030..3044
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Non-specific-nucleotide binding in RNA target.
                     /evidence=ECO:0000269|PubMed:18328718"
     misc_feature    3093..3200
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Pumilio 5.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00317,
                     ECO:0000269|PubMed:21397187"
     misc_feature    3138..3152
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Adenine-nucleotide binding in RNA target.
                     /evidence=ECO:0000269|PubMed:18328718"
     misc_feature    3201..3308
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Pumilio 6.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00317,
                     ECO:0000269|PubMed:21397187"
     misc_feature    3246..3260
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Uracil-nucleotide binding in RNA target.
                     /evidence=ECO:0000269|PubMed:18328718,
                     ECO:0000269|PubMed:21397187, ECO:0007744|PDB:3BSB"
     misc_feature    3309..3416
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Pumilio 7.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00317,
                     ECO:0000269|PubMed:21397187"
     misc_feature    3354..3368
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Guanine-nucleotide binding in RNA target.
                     /evidence=ECO:0000269|PubMed:18328718,
                     ECO:0000269|PubMed:21397187, ECO:0007744|PDB:3BSB"
     misc_feature    3426..3545
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Pumilio 8.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00317,
                     ECO:0000269|PubMed:21397187"
     misc_feature    3483..3497
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14671.3);
                     Region: Uracil-nucleotide binding in RNA target.
                     /evidence=ECO:0000269|PubMed:18328718,
                     ECO:0000269|PubMed:21397187, ECO:0007744|PDB:1M8W,
                     ECO:0007744|PDB:1M8X, ECO:0007744|PDB:3BSB,
                     ECO:0007744|PDB:3BSX, ECO:0007744|PDB:3Q0L,
                     ECO:0007744|PDB:3Q0M, ECO:0007744|PDB:3Q0N,
                     ECO:0007744|PDB:3Q0O, ECO:0007744|PDB:3Q0P"
     regulatory      5365..5370
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="hexamer: AATACA"
     polyA_site      5385
                     /gene="PUM1"
                     /gene_synonym="HSPUM; PUMH; PUMH1; PUML1; SCA47"
                     /note="major polyA site"
ORIGIN
        1 agtgggccgc catgttgtcg gagtgaaagg taagggggag cgagagcgcc agagagagaa
       61 gatcgggggg ctgaaatcca tcttcatcct accgctccgc ccgtgttggt ggaatgagcg
      121 ttgcatgtgt cttgaagaga aaagcagtgc tttggcagga ctctttcagc ccccacctga
      181 aacatcaccc tcaagaacca gctaatccca acatgcctgt tgttttgaca tctggaacag
      241 ggtcgcaagc gcagccacaa ccagctgcaa atcaggctct tgcagctggg actcactcca
      301 gccctgtccc aggatctata ggagttgcag gccgttccca ggacgacgct atggtggact
      361 acttctttca gaggcagcat ggtgagcagc ttgggggagg aggaagtgga ggaggcggct
      421 ataataatag caaacatcga tggcctactg gggataacat tcatgcagaa catcaggtgc
      481 gttccatgga tgaactgaat catgattttc aagcacttgc tctggaggga agagcgatgg
      541 gagagcagct cttgccaggt aaaaagtttt gggaaacaga tgaatccagc aaagatggac
      601 caaaaggaat attcctgggt gatcaatggc gagacagtgc ctggggaaca tcagatcatt
      661 cagtttccca gccaatcatg gtgcagagaa gacctggtca gagtttccat gtgaacagtg
      721 aggtcaattc tgtactgtcc ccacgatcgg agagtggggg actaggcgtt agcatggtgg
      781 agtatgtgtt gagctcatcc ccgggcgatt cctgtctaag aaaaggagga tttggcccaa
      841 gggatgcaga cagtgatgaa aacgacaaag gtgaaaagaa gaacaagggt acgtttgatg
      901 gagataagct aggagatttg aaggaggagg gtgatgtgat ggacaagacc aatggtttac
      961 cagtgcagaa tgggattgat gcagacgtca aagattttag ccgtacccct ggtaattgcc
     1021 agaactctgc taatgaagtg gatcttctgg gtccaaacca gaatggttct gagggcttag
     1081 cccagctgac cagcaccaat ggtgccaagc ctgtggagga tttctccaac atggagtccc
     1141 agagtgtccc cttggacccc atggaacatg tgggcatgga gcctcttcag tttgattatt
     1201 caggcacgca ggtacctgtg gactcagcag cagcaactgt gggacttttt gactacaatt
     1261 ctcaacaaca gctgttccaa agacctaatg cgcttgctgt ccagcagttg acagctgctc
     1321 agcagcagca gtatgcactg gcagctgctc atcagccgca catcggttta gctcccgctg
     1381 cgtttgtccc caatccatac atcatcagcg ctgctccccc agggacggac ccctacacag
     1441 ctggattggc tgcagcagcg acactaggcc cagctgtggt ccctcaccag tattatggag
     1501 ttactccctg gggagtctac cctgccagtc ttttccagca gcaagctgcc gctgccgctg
     1561 cagcaactaa ttcagctaat caacagacca ccccacaggc tcagcaagga cagcagcagg
     1621 ttctccgtgg aggagccagc caacgtcctt tgaccccaaa ccagaaccag cagggacagc
     1681 aaacggatcc ccttgtggca gctgcagcag tgaattctgc ccttgcattt ggacaaggtc
     1741 tggcagcagg catgccaggt tatccggtgt tggctcctgc tgcttactat gaccaaactg
     1801 gtgcccttgt agtgaatgca ggcgcgagaa atggtcttgg agctcctgtt cgacttgtag
     1861 ctcctgcccc agtcatcatt agttcctcag ctgcacaagc agctgttgca gcagccgcag
     1921 cttcagcaaa tggagcagct ggtggtcttg ctggaacaac aaatggacca tttcgccctt
     1981 taggaacaca gcagcctcag ccccagcccc agcagcagcc caataacaac ctggcatcca
     2041 gttctttcta cggcaacaac tctctgaaca gcaattcaca gagcagctcc ctcttctccc
     2101 agggctctgc ccagcctgcc aacacatcct tgggattcgg aagtagcagt tctctcggcg
     2161 ccaccctggg atccgccctt ggagggtttg gaacagcagt tgcaaactcc aacactggca
     2221 gtggctcccg ccgtgactcc ctgactggca gcagtgacct ttataagagg acatcgagca
     2281 gcttgacccc cattggacac agtttttata acggccttag cttttcctcc tctcctggac
     2341 ccgtgggcat gcctctccct agtcagggac caggacattc acagacacca cctccttccc
     2401 tctcttcaca tggatcctct tcaagcttaa acctgggagg actcacgaat ggcagtggaa
     2461 gatacatctc tgctgctcca ggcgctgaag ccaagtaccg cagtgcaagc agcgcctcca
     2521 gcctcttcag cccgagcagc actcttttct cttcctctcg tttgcgatat ggaatgtctg
     2581 atgtcatgcc ttctggcagg agcaggcttt tggaagattt tcgaaacaac cggtacccca
     2641 atttacaact gcgggagatt gctggacata taatggaatt ttcccaagac cagcatgggt
     2701 ccagattcat tcagctgaaa ctggagcgtg ccacaccagc tgagcgccag cttgtcttca
     2761 atgaaatcct ccaggctgcc taccaactca tggtggatgt gtttggtaat tacgtcattc
     2821 agaagttctt tgaatttggc agtcttgaac agaagctggc tttggcagaa cggattcgag
     2881 gccacgtcct gtcattggca ctacagatgt atggctgccg tgttatccag aaagctcttg
     2941 agtttattcc ttcagaccag caggtaatta atgagatggt tcgggaacta gatggccatg
     3001 tcttgaagtg tgtgaaagat cagaatggca atcacgtggt tcagaaatgc attgaatgtg
     3061 tacagcccca gtctttgcaa tttatcatcg atgcgtttaa gggacaggta tttgccttat
     3121 ccacacatcc ttatggctgc cgagtgattc agagaatcct ggagcactgt ctccctgacc
     3181 agacactccc tattttagag gagcttcacc agcacacaga gcagcttgta caggatcaat
     3241 atggaaatta tgtaatccaa catgtactgg agcacggtcg tcctgaggat aaaagcaaaa
     3301 ttgtagcaga aatccgaggc aatgtacttg tattgagtca gcacaaattt gcaagcaatg
     3361 ttgtggagaa gtgtgttact cacgcctcac gtacggagcg cgctgtgctc atcgatgagg
     3421 tgtgcaccat gaacgacggt ccccacagtg ccttatacac catgatgaag gaccagtatg
     3481 ccaactacgt ggtccagaag atgattgacg tggcggagcc aggccagcgg aagatcgtca
     3541 tgcataagat ccggccccac atcgcaactc ttcgtaagta cacctatggc aagcacattc
     3601 tggccaagct ggagaagtac tacatgaaga acggtgttga cttagggccc atctgtggcc
     3661 cccctaatgg tatcatctga ggcagtgtca cccgctgttc cctcattccc gctgacctca
     3721 ctggcccact ggcaaatcca accagcaacc agaaatgttc tagtgtagag tctgagacgg
     3781 gcaagtggtt gctccaggat tactccctcc tccaaaaaag gaatcaaatc cacgagtgga
     3841 aaagcctttg taaatttaat tttattacac ataacatgta ctattttttt taattgacta
     3901 attgccctgc tgttttactg gtgtatagga tacttgtaca taggtaacca atgtacatgg
     3961 gaggccacat attttgttca ctgttgtatc tatatttcac atgtggaaac tttcagggtg
     4021 gttggtttaa caaaaaaaaa aagctttaaa aaaaaaagaa aaaaaggaaa aggtttttag
     4081 ctcatttgcc tggccggcaa gttttgcaaa tagctcttcc ccacctcctc attttagtaa
     4141 aaaacaaaca aaaacaaaaa aacctgagaa gtttgaattg tagttaaatg accccaaact
     4201 ggcatttaac actgtttata aaaaatatat atatatatat atatatatat aatgaaaaag
     4261 gtttcagagt tgctaaagct tcagtttgtg acattaagtt tatgaaattc taaaaaatgc
     4321 cttttttgga gactatatta tgctgaagaa ggctgttcgt gaggaggaga tgcgagcacc
     4381 cagaacgtct tttgaggctg ggcgggtgtg attgtttact gcctactgga tttttttcta
     4441 ttaacattga aaggtaaaat ctgattattt agcatgagaa aaaaaaatcc aactctgctt
     4501 ttggtcttgc ttctataaat atatagtgta tacttggtgt agactttgca tatatacaaa
     4561 tttgtagtat tttcttgttt tgatgtctaa tctgtatcta taatgtaccc tagtagtcga
     4621 acatactttt gattgtacaa ttgtacattt gtatacctgt aatgtaaatg tggagaagtt
     4681 tgaatcaaca taaacacgtt ttttggtaag aaaagagaat tagccagccc tgtgcattca
     4741 gtgtatattc tcacctttta tggtcgtagc atatagtgtt gtatattgta aattgtaatt
     4801 tcaaccagaa gtaaattttt ttcttttgaa ggaataaatg ttctttatac agcctagtta
     4861 atgtttaaaa agaaaaaaat agcttggttt tatttgtcat ctagtctcaa gtatagcgag
     4921 attctttcta aatgttattc aagattgagt tctcactagt gtttttttaa tcctaaaaaa
     4981 gtaatgtttt gattttgtga cagtcaaaag gacgtgcaaa agtctagcct tgcccgagct
     5041 ttccttacaa tcagagcccc tctcaccttg taaagtgtga atcgcccttc ccttttgtac
     5101 agaagatgaa ctgtattttg cattttgtct acttgtaagt gaatgtaaca tactgtcaat
     5161 tttccttgtt tgaatataga attgtaacac tacacggtgt acatttccag agccttgtgt
     5221 atatttccaa tgaacttttt tgcaagcaca cttgtaacca tatgtgtata attaacaaac
     5281 ctgtgtatgc ttatgcctgg gcaactattt tttgtaactc ttgtgtagat tgtctctaaa
     5341 caatgtgtga tctttatttt gaaaaataca gaactttgga atctg
//
LOCUS       NM_001021                488 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S17 (RPS17), transcript variant 1,
            mRNA.
ACCESSION   NM_001021
VERSION     NM_001021.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 488)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   2  (bases 1 to 488)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   3  (bases 1 to 488)
  AUTHORS   Kenney SP and Meng XJ.
  TITLE     Identification and fine mapping of nuclear and nucleolar
            localization signals within the human ribosomal protein S17
  JOURNAL   PLoS One 10 (4), e0124396 (2015)
   PUBMED   25853866
  REMARK    GeneRIF: Nuclear and nucleolar localization signals within the human
            ribosomal protein S17 have been mapped. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 488)
  AUTHORS   Chae H, Park J, Lee S, Kim M, Kim Y, Lee JW, Chung NG, Cho B, Jeong
            DC, Kim J, Kim JR and Park G.
  TITLE     Ribosomal protein mutations in Korean patients with Diamond-Blackfan
            anemia
  JOURNAL   Exp Mol Med 46 (3), e88 (2014)
   PUBMED   24675553
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 488)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   6  (bases 1 to 488)
  AUTHORS   Mundus DA, Bulygin KN, Yamkovoy VI, Malygin AA, Repkova MN,
            Vratskikh LV, Venijaminova AG, Vladimirov SN and Karpova GG.
  TITLE     Structural arrangement of the codon-anticodon interaction area in
            human placenta ribosomes. Affinity labelling of the 40S subunits by
            derivatives of oligoribonucleotides containing the AUG codon
  JOURNAL   Biochim Biophys Acta 1173 (3), 273-282 (1993)
   PUBMED   8318536
REFERENCE   7  (bases 1 to 488)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301769
REFERENCE   8  (bases 1 to 488)
  AUTHORS   Feo S, Davies B and Fried M.
  TITLE     The mapping of seven intron-containing ribosomal protein genes shows
            they are unlinked in the human genome
  JOURNAL   Genomics 13 (1), 201-207 (1992)
   PUBMED   1577483
REFERENCE   9  (bases 1 to 488)
  AUTHORS   Chen IT and Roufa DJ.
  TITLE     The transcriptionally active human ribosomal protein S17 gene
  JOURNAL   Gene 70 (1), 107-116 (1988)
   PUBMED   3240863
REFERENCE   10  (bases 1 to 488)
  AUTHORS   Chen,I.T., Dixit,A., Rhoads,D.D. and Roufa,D.J.
  TITLE     Homologous ribosomal proteins in bacteria, yeast, and humans
  JOURNAL   Proc Natl Acad Sci U S A 83 (18), 6907-6911 (1986)
   PUBMED   3529092
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CD246863.1, BE902183.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000647841.1/ ENSP00000498019.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BC062715.1 and BE905890.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 8, 2018 this sequence version replaced NM_001021.5.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of four RNA species and approximately
            80 structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S17E family of ribosomal proteins and is located in the
            cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4.
            Alternative splicing of this gene results in multiple transcript
            variants. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. [provided by RefSeq, Apr 2014].
            Transcript Variant: This variant (1) encodes the supported protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..488
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.2"
     gene            1..488
                     /gene="RPS17"
                     /gene_synonym="DBA4; eS17; RPS17L; RPS17L1; RPS17L2; S17"
                     /note="ribosomal protein S17"
                     /db_xref="GeneID:6218"
                     /db_xref="HGNC:HGNC:10397"
                     /db_xref="MIM:180472"
     CDS             30..437
                     /gene="RPS17"
                     /gene_synonym="DBA4; eS17; RPS17L; RPS17L1; RPS17L2; S17"
                     /note="40S ribosomal protein S17"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS17"
                     /protein_id="NP_001012.1"
                     /db_xref="CCDS:CCDS10320.1"
                     /db_xref="GeneID:6218"
                     /db_xref="HGNC:HGNC:10397"
                     /db_xref="MIM:180472"
                     /translation="MGRVRTKTVKKAARVIIEKYYTRLGNDFHTNKRVCEEIAIIPSKK
                     LRNKIAGYVTHLMKRIQRGPVRGISIKLQEEERERRDNYVPEVSALDQEIIEVDPDTKE
                     MLKLLDFGSLSNLQVTQPTVGMNFKTPRGPV"
     misc_feature    366..368
                     /gene="RPS17"
                     /gene_synonym="DBA4; eS17; RPS17L; RPS17L1; RPS17L2; S17"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P08708.2);
                     phosphorylation site"
     misc_feature    417..419
                     /gene="RPS17"
                     /gene_synonym="DBA4; eS17; RPS17L; RPS17L1; RPS17L2; S17"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P08708.2); phosphorylation site"
     regulatory      466..471
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS17"
                     /gene_synonym="DBA4; eS17; RPS17L; RPS17L1; RPS17L2; S17"
                     /note="hexamer: AATAAA"
     polyA_site      486
                     /gene="RPS17"
                     /gene_synonym="DBA4; eS17; RPS17L; RPS17L1; RPS17L2; S17"
                     /note="major polyA site"
ORIGIN
        1 gtttcctctt ttaccaagga cccgccaaca tgggccgcgt tcgcaccaaa accgtgaaga
       61 aggcggcccg ggtcatcata gaaaagtact acacgcgcct gggcaacgac ttccacacga
      121 acaagcgcgt gtgcgaggag atcgccatta tccccagcaa aaagctccgc aacaagatag
      181 caggttatgt cacgcatctg atgaagcgaa ttcagagagg cccagtaaga ggtatctcca
      241 tcaagctgca ggaggaggag agagaaagga gagacaatta tgttcctgag gtctcagcct
      301 tggatcagga gattattgaa gtagatcctg acactaagga aatgctgaag cttttggact
      361 tcggcagtct gtccaacctt caggtcactc agcctacagt tgggatgaat ttcaaaacgc
      421 ctcggggacc tgtttgaatt ttttctgtag tgctgtatta ttttcaataa atctgggaca
      481 acagcctt
//
LOCUS       NM_001022               2021 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S19 (RPS19), transcript variant 1,
            mRNA.
ACCESSION   NM_001022
VERSION     NM_001022.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2021)
  AUTHORS   Bhoopalan SV, Yen JS, Mayuranathan T, Mayberry KD, Yao Y, Lillo
            Osuna MA, Jang Y, Liyanage JS, Blanc L, Ellis SR, Wlodarski MW and
            Weiss MJ.
  TITLE     An RPS19-edited model for Diamond-Blackfan anemia reveals
            TP53-dependent impairment of hematopoietic stem cell activity
  JOURNAL   JCI Insight 8 (1), e161810 (2023)
   PUBMED   36413407
  REMARK    GeneRIF: An RPS19-edited model for Diamond-Blackfan anemia reveals
            TP53-dependent impairment of hematopoietic stem cell activity.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2021)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   3  (bases 1 to 2021)
  AUTHORS   Takafuji S, Mori T, Nishimura N, Yamamoto N, Uemura S, Nozu K, Terui
            K, Toki T, Ito E, Muramatsu H, Takahashi Y, Matsuo M, Yamamura T and
            Iijima K.
  TITLE     Usefulness of functional splicing analysis to confirm precise
            disease pathogenesis in Diamond-Blackfan anemia caused by intronic
            variants in RPS19
  JOURNAL   Pediatr Hematol Oncol 38 (6), 515-527 (2021)
   PUBMED   33622161
  REMARK    GeneRIF: Usefulness of functional splicing analysis to confirm
            precise disease pathogenesis in Diamond-Blackfan anemia caused by
            intronic variants in RPS19.
REFERENCE   4  (bases 1 to 2021)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 2021)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 2021)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   7  (bases 1 to 2021)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   8  (bases 1 to 2021)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   9  (bases 1 to 2021)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301769
REFERENCE   10  (bases 1 to 2021)
  AUTHORS   Kondoh N, Schweinfest CW, Henderson KW and Papas TS.
  TITLE     Differential expression of S19 ribosomal protein, laminin-binding
            protein, and human lymphocyte antigen class I messenger RNAs
            associated with colon carcinoma progression and differentiation
  JOURNAL   Cancer Res 52 (4), 791-796 (1992)
   PUBMED   1339304
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.309788.1,
            SRR11853566.14292.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000598742.6/ ENSP00000470972.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BC018616.1 and AC243967.3.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001022.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S19E family of ribosomal proteins. It is located in the
            cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia
            (DBA), a constitutional erythroblastopenia characterized by absent
            or decreased erythroid precursors, in a subset of patients. This
            suggests a possible extra-ribosomal function for this gene in
            erythropoietic differentiation and proliferation, in addition to
            its ribosomal function. Higher expression levels of this gene in
            some primary colon carcinomas compared to matched normal colon
            tissues has been observed. As is typical for genes encoding
            ribosomal proteins, there are multiple processed pseudogenes of
            this gene dispersed through the genome. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2021
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..2021
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /note="ribosomal protein S19"
                     /db_xref="GeneID:6223"
                     /db_xref="HGNC:HGNC:10402"
                     /db_xref="MIM:603474"
     misc_feature    3
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /note="predominant transcription initiation site"
     CDS             36..473
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /note="isoform 1 is encoded by transcript variant 1; 40S
                     ribosomal protein S19; small ribosomal subunit protein
                     eS19; loss of heterozygosity on chromosome 19, region 1;
                     loss of heterozygosity, 19, chromosomal region 1"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS19 isoform 1"
                     /protein_id="NP_001013.1"
                     /db_xref="CCDS:CCDS12588.1"
                     /db_xref="GeneID:6223"
                     /db_xref="HGNC:HGNC:10402"
                     /db_xref="MIM:603474"
                     /translation="MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKEL
                     APYDENWFYTRAASTARHLYLRGGAGVGSMTKIYGGRQRNGVMPSHFSRGSKSVARRVL
                     QALEGLKMVEKDQDGGRKLTPQGQRDLDRIAGQVAAANKKH"
     misc_feature    102..104
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P39019.2); acetylation site"
     misc_feature    234..236
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P39019.2); methylation site"
     misc_feature    366..368
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P39019.2); acetylation site"
     misc_feature    378..380
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9CZX8; propagated from
                     UniProtKB/Swiss-Prot (P39019.2); acetylation site"
     regulatory      492..497
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /note="hexamer: AATAAA"
     polyA_site      512
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /note="major polyA site"
     regulatory      2003..2008
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /note="hexamer: AATAAA"
     polyA_site      2021
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
ORIGIN
        1 ccctttcccc tggctggcag cgcggaggcc gcacgatgcc tggagttact gtaaaagacg
       61 tgaaccagca ggagttcgtc agagctctgg cagccttcct caaaaagtcc gggaagctga
      121 aagtccccga atgggtggat accgtcaagc tggccaagca caaagagctt gctccctacg
      181 atgagaactg gttctacacg cgagctgctt ccacagcgcg gcacctgtac ctccggggtg
      241 gcgctggggt tggctccatg accaagatct atgggggacg tcagagaaac ggcgtcatgc
      301 ccagccactt cagccgaggc tccaagagtg tggcccgccg ggtcctccaa gccctggagg
      361 ggctgaaaat ggtggaaaag gaccaagatg gcggccgcaa actgacacct cagggacaaa
      421 gagatctgga cagaatcgcc ggacaggtgg cagctgccaa caagaagcat tagaacaaac
      481 catgctgggt taataaattg cctcattcgt aatcctggtc tgggtctctt ttttgagtct
      541 cttgctctgt cgcccaggct ggagtgcagt ggcgccatct cagctcactg caatctccgc
      601 cttctgggtt caaatgattc tcctgcctca gcctcccaaa gtgctgggat tacaagtgtg
      661 agccactgtg cctggtctgg tttgggtctc ttgattgttc ttcaggggca tgaggaagag
      721 gcgcttcctc ccttcccttg ggtgaggggg cccagggtga ttgggtggct gtttacccgg
      781 cagccagtcg ggccttccca ggtcaaacag ttcccatctg ggtttggagg aaggacccag
      841 gggcccttgt ggctcactcc cccacatcct gtctttgcaa ttgtcagaaa gtgagaaacg
      901 aaaggatggc tgtgagctgt gacctcagct gggcctgggc tgcagaggtg gcttccgctg
      961 gagtaaagca agagggccca gggttcatgc tcttccctgg aaggtagaaa aggacagacc
     1021 accagggagc ctccaccgca aactgacctg tgctgcctac acactaactt tcctgggcct
     1081 ggggcctgca caggctgaat ggtccttgag ccttcactct gcatctgagc ggtcttgggc
     1141 ccgctgagtg gcagtggcag gaagtcggtg gaagcagatc cctgtgcaga agttgaatta
     1201 ccagggcggc cacacacggg ctgcacaacc tttgcagtcg tgcacggcaa gtgggatgtg
     1261 gcctccgccc atgattgggc acctggtcag gctgggagat ccaaatagca cccagtgggc
     1321 agctgtccga cccctggagg ggcaagccag gaaagaaact tagggcccgc tgtgaccaga
     1381 tgtccctccc agttgggaag actaaactgg tttggccaat atctcccagg attcccctgt
     1441 ccaaattatt cctgggatct gacccatttc ctggaaaggg gcgagcctgg gttttgaagt
     1501 tcaaactaga gtttaaatca caactctgcc cctaatccca cgtaaccctg tgcaccttat
     1561 cctctgagcc ttcgtctcct cgtgtgtaag cctgctaact cctgagagac tggacaagat
     1621 gccgtggaga gccttggctc tgagtagctc tgctgctgga cagttcagtt ggcagtcccc
     1681 aaacgtaagg cgtaagagtt taagaagtat cggccaggca cagtggctca cacctgtaat
     1741 ctcaacactt tgggaggccg agacgggctg atcacctgag gttgggagct tgagaacagc
     1801 ctgaccaaca tggagaaacc ctgtctctaa aaataccaaa attagttggg catggtggcg
     1861 cgcacctgta atcccagcta ctcaggaggc tgaggcagaa gaatcgctcg aaccccggag
     1921 gcggaggttg cagtgggttg agatcgagca attgcaatcc agcctgggca acagagcgag
     1981 actccatttc aaaaaaagaa tcaataaaaa tgttaaaagc a
//
LOCUS       NM_001023                519 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S20 (RPS20), transcript variant 2,
            mRNA.
ACCESSION   NM_001023
VERSION     NM_001023.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 519)
  AUTHORS   Shen C, Chen Z, Zhang Y, Xu W, Peng R, Jiang J, Zuo W, Fan Y and
            Zheng B.
  TITLE     Biochemical and clinical effects of RPS20 expression in renal clear
            cell carcinoma
  JOURNAL   Oncol Rep 49 (1) (2023)
   PUBMED   36484407
  REMARK    GeneRIF: Biochemical and clinical effects of RPS20 expression in
            renal clear cell carcinoma.
REFERENCE   2  (bases 1 to 519)
  AUTHORS   Bhar S, Zhou F, Reineke LC, Morris DK, Khincha PP, Giri N, Mirabello
            L, Bergstrom K, Lemon LD, Williams CL, Toh Y, Elghetany MT, Lloyd
            RE, Alter BP, Savage SA and Bertuch AA.
  TITLE     Expansion of germline RPS20 mutation phenotype to include
            Diamond-Blackfan anemia
  JOURNAL   Hum Mutat 41 (11), 1918-1930 (2020)
   PUBMED   32790018
  REMARK    GeneRIF: Expansion of germline RPS20 mutation phenotype to include
            Diamond-Blackfan anemia.
REFERENCE   3  (bases 1 to 519)
  AUTHORS   Thompson BA, Snow AK, Koptiuch C, Kohlmann WK, Mooney R, Johnson S,
            Huff CD, Yu Y, Teerlink CC, Feng BJ, Neklason DW, Cannon-Albright LA
            and Tavtigian SV.
  TITLE     A novel ribosomal protein S20 variant in a family with unexplained
            colorectal cancer and polyposis
  JOURNAL   Clin Genet 97 (6), 943-944 (2020)
   PUBMED   32424863
  REMARK    GeneRIF: A novel ribosomal protein S20 variant in a family with
            unexplained colorectal cancer and polyposis.
REFERENCE   4  (bases 1 to 519)
  AUTHORS   Lee JH, Han JH, Kim H, Park SM, Joe EH and Jou I.
  TITLE     Parkinson's disease-associated LRRK2-G2019S mutant acts through
            regulation of SERCA activity to control ER stress in astrocytes
  JOURNAL   Acta Neuropathol Commun 7 (1), 68 (2019)
   PUBMED   31046837
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 519)
  AUTHORS   Krishnan R, Boddapati N and Mahalingam S.
  TITLE     Interplay between human nucleolar GNL1 and RPS20 is critical to
            modulate cell proliferation
  JOURNAL   Sci Rep 8 (1), 11421 (2018)
   PUBMED   30061673
  REMARK    GeneRIF: cross-talk between GNL1 and RPS20 is critical to promote
            cell proliferation. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 519)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   7  (bases 1 to 519)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   8  (bases 1 to 519)
  AUTHORS   Kiss-Laszlo Z, Henry Y, Bachellerie JP, Caizergues-Ferrer M and Kiss
            T.
  TITLE     Site-specific ribose methylation of preribosomal RNA: a novel
            function for small nucleolar RNAs
  JOURNAL   Cell 85 (7), 1077-1088 (1996)
   PUBMED   8674114
REFERENCE   9  (bases 1 to 519)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   10  (bases 1 to 519)
  AUTHORS   Chu W, Presky DH, Swerlick RA and Burns DK.
  TITLE     Human ribosomal protein S20 cDNA sequence
  JOURNAL   Nucleic Acids Res 21 (7), 1672 (1993)
   PUBMED   8479924
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK130961.1, BG028867.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000009589.8/ ENSP00000009589.3
            RefSeq Select criteria      :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from CB138358.1 and BC007507.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 27, 2020 this sequence version replaced NM_001023.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S10P family of ribosomal proteins. It is located in the
            cytoplasm. This gene is co-transcribed with the small nucleolar RNA
            gene U54, which is located in its second intron. As is typical for
            genes encoding ribosomal proteins, there are multiple processed
            pseudogenes of this gene dispersed through the genome. Two
            transcript variants encoding different isoforms have been
            identified for this gene. [provided by RefSeq, Apr 2009].
            Transcript Variant: This variant (2) differs in the 3' coding
            region and 3' UTR, compared to variant 1. The resulting isoform (2)
            has a distinct C-terminus and is shorter than isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..519
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.1"
     gene            1..519
                     /gene="RPS20"
                     /gene_synonym="S20; uS10"
                     /note="ribosomal protein S20"
                     /db_xref="GeneID:6224"
                     /db_xref="HGNC:HGNC:10405"
                     /db_xref="MIM:603682"
     misc_feature    61..63
                     /gene="RPS20"
                     /gene_synonym="S20; uS10"
                     /note="upstream in-frame stop codon"
     CDS             124..483
                     /gene="RPS20"
                     /gene_synonym="S20; uS10"
                     /note="isoform 2 is encoded by transcript variant 2; 40S
                     ribosomal protein S20; small ribosomal subunit protein
                     uS10"
                     /codon_start=1
                     /product="small ribosomal subunit protein uS10 isoform 2"
                     /protein_id="NP_001014.1"
                     /db_xref="CCDS:CCDS6163.1"
                     /db_xref="GeneID:6224"
                     /db_xref="HGNC:HGNC:10405"
                     /db_xref="MIM:603682"
                     /translation="MAFKDTGKTPVEPEVAIHRIRITLTSRNVKSLEKVCADLIRGAKE
                     KNLKVKGPVRMPTKTLRITTRKTPCGEGSKTWDRFQMRIHKRLIDLHSPSEIVKQITSI
                     SIEPGVEVEVTIADA"
     misc_feature    127..129
                     /gene="RPS20"
                     /gene_synonym="S20; uS10"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.7;
                     propagated from UniProtKB/Swiss-Prot (P60866.1);
                     acetylation site"
     misc_feature    148..150
                     /gene="RPS20"
                     /gene_synonym="S20; uS10"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P60866.1); phosphorylation site"
     misc_feature    223..225
                     /gene="RPS20"
                     /gene_synonym="S20; uS10"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P60867; propagated from
                     UniProtKB/Swiss-Prot (P60866.1); acetylation site"
     misc_feature    346..348
                     /gene="RPS20"
                     /gene_synonym="S20; uS10"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P60867; propagated from
                     UniProtKB/Swiss-Prot (P60866.1); acetylation site"
     misc_feature    400..402
                     /gene="RPS20"
                     /gene_synonym="S20; uS10"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P60866.1); phosphorylation site"
     regulatory      496..501
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS20"
                     /gene_synonym="S20; uS10"
                     /note="hexamer: AATAAA"
     polyA_site      519
                     /gene="RPS20"
                     /gene_synonym="S20; uS10"
                     /note="major polyA site"
ORIGIN
        1 ctttttgagg aagacgcggt cgtaagggct gaggattttt ggtccgcacg ctcctgctcc
       61 tgactcaccg ctgttcgctc tcgccgagga acaagtcggt caggaagccc gcgcgcaaca
      121 gccatggctt ttaaggatac cggaaaaaca cccgtggagc cggaggtggc aattcaccga
      181 attcgaatca ccctaacaag ccgcaacgta aaatccttgg aaaaggtgtg tgctgacttg
      241 ataagaggcg caaaagaaaa gaatctcaaa gtgaaaggac cagttcgaat gcctaccaag
      301 actttgagaa tcactacaag aaaaactcct tgtggtgaag gttctaagac gtgggatcgt
      361 ttccagatga gaattcacaa gcgactcatt gacttgcaca gtccttctga gattgttaag
      421 cagattactt ccatcagtat tgagccagga gttgaggtgg aagtcaccat tgcagatgct
      481 taagtcaact attttaataa attgatgacc agttgttaa
//
LOCUS       NM_001023560            2685 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens zinc finger and SCAN domain containing 26 (ZSCAN26),
            transcript variant a, mRNA.
ACCESSION   NM_001023560
VERSION     NM_001023560.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2685)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2685)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2685)
  AUTHORS   Kim YC, Wu Q, Chen J, Xuan Z, Jung YC, Zhang MQ, Rowley JD and Wang
            SM.
  TITLE     The transcriptome of human CD34+ hematopoietic stem-progenitor cells
  JOURNAL   Proc Natl Acad Sci U S A 106 (20), 8278-8283 (2009)
   PUBMED   19416867
REFERENCE   4  (bases 1 to 2685)
  AUTHORS   Attar RM and Gilman MZ.
  TITLE     Expression cloning of a novel zinc finger protein that binds to the
            c-fos serum response element
  JOURNAL   Mol Cell Biol 12 (5), 2432-2443 (1992)
   PUBMED   1569959
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX537535.1, SRR14038193.2233354.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000421553.7/ ENSP00000481707.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK095948.1, AL526328.3 and BC013951.2.
            On Aug 13, 2020 this sequence version replaced NM_001023560.3.
            Transcript Variant: This variant (a) represents the longest
            transcript and encodes the longest isoform (a).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2685
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     gene            1..2685
                     /gene="ZSCAN26"
                     /gene_synonym="SRE-ZBP; SREZBP; ZNF187"
                     /note="zinc finger and SCAN domain containing 26"
                     /db_xref="GeneID:7741"
                     /db_xref="HGNC:HGNC:12978"
                     /db_xref="MIM:616474"
     misc_feature    81..83
                     /gene="ZSCAN26"
                     /gene_synonym="SRE-ZBP; SREZBP; ZNF187"
                     /note="upstream in-frame stop codon"
     CDS             138..1577
                     /gene="ZSCAN26"
                     /gene_synonym="SRE-ZBP; SREZBP; ZNF187"
                     /note="isoform a is encoded by transcript variant a; zinc
                     finger and SCAN domain-containing protein 26; zinc finger
                     protein 187"
                     /codon_start=1
                     /product="zinc finger and SCAN domain-containing protein 26
                     isoform a"
                     /protein_id="NP_001018854.2"
                     /db_xref="GeneID:7741"
                     /db_xref="HGNC:HGNC:12978"
                     /db_xref="MIM:616474"
                     /translation="MATALVSAHSLAPLNLKKEGLRVVREDHYSTWEQGFKLQGNSKGL
                     GQEPLCKQFRQLRYEETTGPREALSRLRELCQQWLQPETHTKEQILELLVLEQFLIILP
                     KELQARVQEHHPESREDVVVVLEDLQLDLGETGQQVDPDQPKKQKILVEEMAPLKGVQE
                     QQVRHECEVTKPEKEKGEETRIENGKLIVVTDSCGRVESSGKISEPMEAHNEGSNLERH
                     QAKPKEKIEYKCSEREQRFIQHLDLIEHASTHTGKKLCESDVCQSSSLTGHKKVLSREK
                     GHQCHECGKAFQRSSHLVRHQKIHLGEKPYQCNECGKVFSQNAGLLEHLRIHTGEKPYL
                     CIHCGKNFRRSSHLNRHQRIHSQEEPCECKECGKTFSQALLLTHHQRIHSHSKSHQCNE
                     CGKAFSLTSDLIRHHRIHTGEKPFKCNICQKAFRLNSHLAQHVRIHNEEKPYQCSECGE
                     AFRQRSGLFQHQRYHHKDKLA"
     misc_feature    615..683
                     /gene="ZSCAN26"
                     /gene_synonym="SRE-ZBP; SREZBP; ZNF187"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16670.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    738..818
                     /gene="ZSCAN26"
                     /gene_synonym="SRE-ZBP; SREZBP; ZNF187"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16670.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2667..2672
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZSCAN26"
                     /gene_synonym="SRE-ZBP; SREZBP; ZNF187"
                     /note="hexamer: AATAAA"
     polyA_site      2685
                     /gene="ZSCAN26"
                     /gene_synonym="SRE-ZBP; SREZBP; ZNF187"
                     /note="major polyA site"
ORIGIN
        1 agagctgaca ctcggcgatg agctaagacg ctgtttcaga gcgtttgggt cctctgaggc
       61 cccttgacca ggagtgtctc tgaagataca gtccaaagaa agttctccaa aacaaggaga
      121 acagtctgaa gctggggatg gcaacagcat tggtgagtgc ccattccctg gctcccctga
      181 atctgaagaa ggaggggctt cgggtagtga gggaggatca ctactctact tgggaacagg
      241 gattcaagct gcaaggaaac agtaaaggcc ttggacagga gccattgtgc aaacaattca
      301 ggcagttgcg ttatgaagag accacaggac ctcgagaagc actaagtcgg ctccgggagc
      361 tctgtcaaca gtggctacag cccgagaccc ataccaagga gcagatcctg gagctgctgg
      421 tgctggagca gtttctgatc atcctgccta aggagctcca ggcccgggtg caggagcatc
      481 acccagagag cagggaggac gtggttgttg ttctggagga tttgcagctg gatcttggag
      541 aaacaggaca acaggtggac ccagaccagc caaagaaaca aaaaatactt gtggaggaga
      601 tggcccctct gaaaggagta caggaacagc aggttcggca tgagtgtgaa gttacaaagc
      661 ctgagaaaga gaagggtgag gagacaagga ttgagaatgg gaagcttatt gtagtaacag
      721 actcttgtgg aagagtagag tcatctggga aaatatctga acccatggag gctcataatg
      781 agggctctaa cttggaaagg catcaggcca agcccaaaga gaagattgag tataaatgct
      841 cagaacgtga gcagagattc atccagcact tggacctgat tgaacatgcg agtacacaca
      901 cgggaaagaa actctgcgag tctgatgtgt gtcagagttc cagtcttaca ggacataaga
      961 aagtcctctc tagagagaaa ggtcatcagt gtcatgagtg tgggaaagcc tttcagagga
     1021 gttcacacct cgtcagacat cagaaaatcc atcttggtga gaagccttat cagtgcaatg
     1081 agtgtggcaa agtctttagc cagaatgcag gccttttgga acatctcaga attcatactg
     1141 gagagaaacc ttatctatgt atccattgtg gaaaaaattt taggcgcagc tctcacctta
     1201 atcgacatca gagaattcac agtcaggagg agccctgtga gtgcaaggag tgtggaaaaa
     1261 cctttagtca ggccttactc ctcacccacc atcagagaat ccatagtcac tccaaaagcc
     1321 atcaatgtaa cgagtgtgga aaagctttca gtttgacctc agaccttatt cgacaccaca
     1381 gaattcatac tggagaaaaa cctttcaagt gtaacatatg ccagaaagcc ttccgactaa
     1441 actcacacct tgctcagcat gtaagaatcc acaatgaaga aaaaccctat cagtgtagtg
     1501 aatgtggaga agccttcagg caaaggtcag gtctttttca acatcagaga tatcaccaca
     1561 aagacaaact ggcttgatga ggtgttctct ccttgtagaa catcagagaa ggcacattga
     1621 ctagcaaaca gcactttagg aaaagtcacc gtagcccact gtggcatcag aaaattcttg
     1681 ggggctgagt tggaggctcc ctgcctctat tctctctcct ttgctttcct tgaagtcagc
     1741 tttggaccac aataatttca ctgtagatga tatgctagga tcaaagttaa acagcattct
     1801 tcactgcagg acatctcaga gcatgtaaca taactgcatg attatatact ctaagcaata
     1861 gagagcttca tgactgagta agagttttga agtcagcagt gaatcaagtg cccacagatt
     1921 tgcaggctta agcagaacaa gggaagattg atatttttgg atatgctata gcagctttct
     1981 cctatgaaat aaaactgatg atgtttggaa gtatactact ctcaaaggtg tctttaaagt
     2041 acaggttaat ggtgaacatt ttcccccagt ggcttcacct cattcctccc actggcctta
     2101 ccccttcctt ccccagtgga agcattttca aaagcaaaga taattttcgc tggtgaactt
     2161 cagaacttgc cttcagggtt agcttcatgt aattttacca tttcccatcc ccattcccca
     2221 ccacattatg tcaagattca agttataaat taacgtttta cttagacttt gaaagagatt
     2281 tcatgagtaa tttgaatgaa ccttgctgaa ttaatctgaa tagcaactgt ctgacttgat
     2341 aactccagtg ccagtatagt ggctgctgca tagacactat tcagtaaatg tctgatgaaa
     2401 gaaattggac tttttccctt taatactgat gatgcaattt tgaaatgttg cttgttctgg
     2461 aatacttcgg aagttaaaca ataaagtcag cttggagagg agatcatgat ctttatactg
     2521 tgaatagcag aatgtcacag atgaagaata ttaaaattag gggcgtccac tccaaaacat
     2581 atcaccagag tgacaacttc agccctcagc ctctgcaatc catatatatc ctggtcttgg
     2641 gagtccatag aatactgttt ccttctaata aaggtttcaa acaaa
//
LOCUS       NM_001023561            4207 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 749 (ZNF749), transcript variant 1,
            mRNA.
ACCESSION   NM_001023561
VERSION     NM_001023561.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4207)
  AUTHORS   Tsuritani K, Irie T, Yamashita R, Sakakibara Y, Wakaguri H, Kanai A,
            Mizushima-Sugano J, Sugano S, Nakai K and Suzuki Y.
  TITLE     Distinct class of putative 'non-conserved' promoters in humans:
            comparative studies of alternative promoters of human and mouse
            genes
  JOURNAL   Genome Res 17 (7), 1005-1014 (2007)
   PUBMED   17567985
REFERENCE   2  (bases 1 to 4207)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr
            M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano
            A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin
            E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D,
            Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M,
            Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J,
            Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou
            Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J,
            Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP,
            Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers
            S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V,
            Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J,
            Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M,
            Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar
            DS, Myers RM, Rubin EM and Lucas SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.250227.1,
            SRR1660809.203047.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000334181.5/ ENSP00000333980.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP872084.1, DB099619.1, AK122794.1 and AC004076.1.
            On Nov 23, 2018 this sequence version replaced NM_001023561.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4207
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     gene            1..4207
                     /gene="ZNF749"
                     /note="zinc finger protein 749"
                     /db_xref="GeneID:388567"
                     /db_xref="HGNC:HGNC:32783"
     misc_feature    201..203
                     /gene="ZNF749"
                     /note="upstream in-frame stop codon"
     CDS             255..2591
                     /gene="ZNF749"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="zinc finger protein 749 isoform 1"
                     /protein_id="NP_001018855.2"
                     /db_xref="CCDS:CCDS33132.2"
                     /db_xref="GeneID:388567"
                     /db_xref="HGNC:HGNC:32783"
                     /translation="MNLTEDCMVFEDVAIYFSQEEWGILNDAQRHLHSNVMLENFALLS
                     SVGCWHGAKDEEVPSKQCVSVRVLQVTIPKPALSTLKAQPCKMCSSILKDILHLAEHDG
                     THPEQGLYTCAAEHDLHQKEQIREKLTRSDEWRPSFVNHSAHVGERNFTCTQGGKDFTA
                     SSDLLQQQVLNSGWKLYRDTQDGEAFQGEQNDFNSSQGGKDFCHQHGLFEHQKTHNGER
                     PYEFSECGELFRYNSNLIKYQQNHAGERPYEGTEYGKTFIRKSNLVQHQKIHSEGFLSK
                     RSDPIEHQEILSRPTPYECTQCGKAFLTQAHLVGHQKTHTGEQPYECNKCGKFFMYNSK
                     LIRHQKVHTGERRYECSECGKLFMDSFTLGRHQRVHTGERPFECSICGKFFSHRSTLNM
                     HQRVHAGKRLYKCSECGKAFSLKHNVVQHLKIHTGERPYECTECEKAFVRKSHLVQHQK
                     IHTDAFSKRSDLIQHKRIDIRPRPYTCSECGKAFLTQAHLVGHQKIHTGERPYECTQCA
                     KAFVRKSHLVQHEKIHTDAFSKRSDLIQHKRIDLRPRPYVCSECGKAFLTQAHLDGHQK
                     IQTGERRYECNECGKFFLDSYKLVIHQRIHTGEKPYKCSKCGKFFRYRCTLSRHQKVHT
                     GERPYECSECGKFFRDSYKLIIHQRVHTGEKPYECSNCGKFLRYRSTFIKHHKVCTGEK
                     PHECSKCRELFRTKSSLIIHQQSHTGESPFKLRECGKDFNKCNTGQRQKTHTGERSYEC
                     GESSKVFKYNSSLIKHQIIHTGKRP"
     misc_feature    1650..1652
                     /gene="ZNF749"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O43361.2); acetylation site"
     misc_feature    1869..1871
                     /gene="ZNF749"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O43361.2); acetylation site"
     regulatory      3591..3596
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF749"
                     /note="hexamer: TATAAA"
     polyA_site      3618
                     /gene="ZNF749"
                     /note="major polyA site"
     regulatory      3723..3728
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF749"
                     /note="hexamer: AATAAA"
     polyA_site      3743
                     /gene="ZNF749"
     regulatory      4182..4187
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF749"
                     /note="hexamer: AATAAA"
     polyA_site      4207
                     /gene="ZNF749"
ORIGIN
        1 acttctggcg gcgccctcat ggttgcgtta gcatggctac ctagggatct gttcactgat
       61 ttagagggtc ccagagctct gggtcgggac tgaggtgaaa gagcggaaaa acgcgagaag
      121 cggtgttcct tctacacaga ggctagagtg cggatcggct gagtcggctg caggcgcccc
      181 tgcctccgtc agcgtccagg tgaccgccgt tcccgccccg ctcttccctg ggtggactgg
      241 aggaggccgc gccgatgaac ctgaccgagg attgtatggt ctttgaggat gtggccatat
      301 atttctccca agaggaatgg gggatcctta atgatgctca gagacacctg cacagcaatg
      361 tgatgttgga gaactttgcg cttttgtcat cagtaggttg ttggcatgga gccaaggatg
      421 aggaggtacc ttccaagcag tgtgtttctg taagagtgtt acaggtcaca attccaaagc
      481 cagctttgtc caccctgaag gcccagccct gcaagatgtg tagctcaatt ctgaaggaca
      541 ttctgcacct ggctgagcac gatggaacac accctgagca agggctgtac acatgtgcag
      601 cagagcatga cctgcaccaa aaggagcaga ttagagagaa gctcaccaga agtgatgagt
      661 ggaggccttc atttgtgaac cacagtgctc acgtgggaga gaggaacttc acatgcacgc
      721 agggtggcaa ggattttact gccagctcag accttctcca gcaacaggtc ttaaacagtg
      781 ggtggaagct gtacagggat acccaggatg gggaagcctt tcaaggtgaa cagaatgatt
      841 tcaactccag ccaaggtggg aaagactttt gccaccaaca tgggctgttt gagcaccaaa
      901 aaacccataa tggggagagg ccttatgagt tcagtgaatg tggggaattg tttaggtaca
      961 actccaacct tattaaatat cagcaaaatc atgctggaga aaggccttat gagggcactg
     1021 aatatggaaa gacctttatt agaaagtcca acctagttca gcaccagaaa attcacagtg
     1081 aaggctttct ttcaaaaagg tctgacccca ttgaacatca ggagattctc agtagaccaa
     1141 caccttatga atgcacccag tgtgggaagg cctttcttac acaggctcat ctggttggtc
     1201 accagaaaac ccatactgga gaacagccct atgaatgcaa caagtgtggg aagtttttta
     1261 tgtataactc caaactcatc agacatcaga aagttcacac tggggagagg cgttacgagt
     1321 gcagtgaatg tgggaaattg tttatggaca gcttcacact cggtagacat cagagagttc
     1381 atactggaga aaggcctttt gaatgcagca tatgtggaaa attctttagt caccgctcca
     1441 cactcaatat gcaccagaga gttcatgctg gcaaaaggct ttataagtgt agcgaatgtg
     1501 ggaaagcctt tagcctcaaa cataatgttg ttcagcatct gaaaattcat actggagaac
     1561 ggccttatga gtgcactgaa tgtgagaagg cctttgttag aaagtcccac ctagttcagc
     1621 accagaaaat ccacactgat gcattttcaa aaaggtctga cctcattcaa cacaagagga
     1681 ttgacattag gccaaggcct tatacatgca gtgaatgtgg gaaggccttc cttacacagg
     1741 ctcatctggt tggtcaccag aaaatccata ctggagaacg gccttatgaa tgcactcaat
     1801 gtgcgaaggc ctttgttaga aagtcccacc tagttcagca tgagaaaatc cacactgatg
     1861 cattttcaaa aaggtctgac ctcattcaac acaagaggat tgacctcagg ccaaggcctt
     1921 atgtgtgtag tgaatgtggg aaggccttcc ttacacaggc tcatctagat ggtcaccaga
     1981 aaatccagac tggagaacgg cgttatgaat gcaatgaatg tgggaaattc tttttggaca
     2041 gctacaaact tgttattcat cagagaattc acactggaga aaagccttat aaatgcagca
     2101 aatgtgggaa attctttaga tatcgctgta cactgagtag acatcagaaa gttcacactg
     2161 gagaaagacc ttatgagtgt agtgaatgtg ggaaattttt tagagatagc tacaaactca
     2221 ttattcatca gagagttcat actggagaaa agccttatga atgcagcaac tgtgggaagt
     2281 ttcttagata ccgctctaca ttcattaaac atcataaagt ttgcactggg gagaagcctc
     2341 atgagtgcag taaatgtagg gaattgttta ggactaaatc gagccttatt atacatcagc
     2401 agtctcacac tggagaaagt ccttttaagt taagggaatg tgggaaagac ttcaacaaat
     2461 gtaatactgg tcagcgccaa aaaactcaca ctggagaaag gtcttatgag tgtggtgaat
     2521 ccagcaaagt gtttaaatac aactccagcc tcattaaaca tcagataatt catactggaa
     2581 aaaggcctta gtggagtgaa tgcaggaaag tcaccaaaac tgtcacctca ttcagcacca
     2641 aaaggttcac atcggaccaa gaacctatta atatatgtaa atctaatgtt gaaagagttc
     2701 agatggaaat ctgcgaggat ttcctgctgg gaactacatt aaaaacattt atgtccaggc
     2761 gtggtggctc acgcctgtaa tcccagcact ttgggaggca gaggtgggtg gatcacctga
     2821 ggtcaggagt ttgagaccag ccgggccaac atggtgaagc cccatctcta ctaaaaatac
     2881 aaaaattagc tgggcatggt ggcaggtgcc tgtaatccca gctattcagg ggactgaggc
     2941 agggagcatc acttgaacct gggaggcgga ggttgcagtg aactgagatt gttccattgc
     3001 actccagcct gggtgacagg gcgagactct gtctcaaaaa gaaaaaaatt ataattgtgg
     3061 caaattacag gtaacttaaa atctaccatc ttaacccata tttaactgta ctgttcagta
     3121 gtgttaagtc attcgcattg ttgtcaatta atatccagaa gttttttcaa cttaatgaaa
     3181 ctaaaacatt atacccttta aaccaggggt ccacaacccc caggctgcaa actggtacca
     3241 gtctgtggcc tgttaggaac cgggccagca tcactacctg agcttcacct cctgtcagat
     3301 gagcagcatt agattctcat agcagcctga gccctattgt gaactgtgcc tgtgagggat
     3361 ctaggttgtg tgctccttat gagaatctaa ctaatacctg atgatctgag gtgggacagt
     3421 tttattctga aactgtctgc cccctcctct gtccctgatg cgtggaaaaa ttggcttcca
     3481 tgaaaccagt ccctggtgcc aaagaggttg gggaccgctg ctttaaacta ctcctcttcc
     3541 tcattcccta cgccaaccag cccctgacaa tactactgta tgaattttac tataaatatc
     3601 tcatatgagg aaacttaagt tttagtcttt tgtgacttat tttgaggctt atttccctaa
     3661 atgtcttcaa ggtttatcca tgttgtagca tagcttatga ttttcatctt ttttaaaggc
     3721 cgaataaaat cccattgtag tcatgtgtcg cctaacaaga ggactgtgtt ctgagtaatc
     3781 atcttaaggt gattttgtca ttgtgtgaac aaagagtgta cttacacaaa cctgaagggc
     3841 acagcctatt acgcacctag gctatatgat atggtccatt gcgcctcaga tataaacctt
     3901 aacagcatgt tacagtattg aatattgtag gtaattgaaa cacaatgata agtaaatgtg
     3961 tatctaaaca tatctaagtt tccaaaaggt actgtaaaaa tgtatgaaaa atggtaaaaa
     4021 ctttataggg cactaacatg aacgaagctt gcgggacccc tctggttgag tcagggagtg
     4081 agttgtgagt gaatgtgaag ctctaggaca ttactgtacc ctattgtaga tgttataaac
     4141 attgtacact taggctactc taaattaatt ttttctttag taataaatta accttagtct
     4201 actgtaa
//
LOCUS       NM_001023563           10169 bp    mRNA    linear   PRI 25-JUN-2021
DEFINITION  Homo sapiens zinc finger protein 805 (ZNF805), transcript variant 1,
            mRNA.
ACCESSION   NM_001023563
VERSION     NM_001023563.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10169)
  AUTHORS   Lasky-Su J, Neale BM, Franke B, Anney RJ, Zhou K, Maller JB, Vasquez
            AA, Chen W, Asherson P, Buitelaar J, Banaschewski T, Ebstein R, Gill
            M, Miranda A, Mulas F, Oades RD, Roeyers H, Rothenberger A, Sergeant
            J, Sonuga-Barke E, Steinhausen HC, Taylor E, Daly M, Laird N, Lange
            C and Faraone SV.
  TITLE     Genome-wide association scan of quantitative traits for attention
            deficit hyperactivity disorder identifies novel associations and
            confirms candidate gene associations
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 147B (8), 1345-1354 (2008)
   PUBMED   18821565
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.229101.1,
            SRR1803616.21427.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000414468.3/ ENSP00000412999.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005261.2.
            On Nov 22, 2018 this sequence version replaced NM_001023563.3.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..10169
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.43"
     gene            1..10169
                     /gene="ZNF805"
                     /note="zinc finger protein 805"
                     /db_xref="GeneID:390980"
                     /db_xref="HGNC:HGNC:23272"
     misc_feature    144..146
                     /gene="ZNF805"
                     /note="upstream in-frame stop codon"
     CDS             261..2144
                     /gene="ZNF805"
                     /note="isoform 1 is encoded by transcript variant 1;
                     CTC-444N24.8"
                     /codon_start=1
                     /product="zinc finger protein 805 isoform 1"
                     /protein_id="NP_001018857.2"
                     /db_xref="CCDS:CCDS46207.1"
                     /db_xref="GeneID:390980"
                     /db_xref="HGNC:HGNC:23272"
                     /translation="MAMALTDPAQVSVTFDDVAVTFTQEEWGQLDLAQRTLYQEVMLEN
                     CGLLVSLGCPVPRPELIYHLEHGQEPWTRKEDLSQGTCPGDKGKPKSTEPTTCELALSE
                     GISFWGQLTQGASGDSQLGQPKDQDGFSEMQGERLRPGLDSQKEKLPGKMSPKHDGLGT
                     ADSVCSRIIQDRVSLGDDVHDCDSHGSGKNPVIQEEENIFKCNECEKVFNKKRLLARHE
                     RIHSGVKPYECTECGKTFSKSTYLLQHHMVHTGEKPYKCMECGKAFNRKSHLTQHQRIH
                     SGEKPYKCSECGKAFTHRSTFVLHNRSHTGEKPFVCKECGKAFRDRPGFIRHYIIHSGE
                     NPYECFECGKVFKHRSYLMWHQQTHTGEKPYECSECGKAFCESAALIHHYVIHTGEKPF
                     ECLECGKAFNHRSYLKRHQRIHTGEKPYVCSECGKAFTHCSTFILHKRAHTGEKPFECK
                     ECGKAFSNRADLIRHFSIHTGEKPYECMECGKAFNRRSGLTRHQRIHSGEKPYECIECG
                     KTFCWSTNLIRHSIIHTGEKPYECSECGKAFSRSSSLTQHQRMHTGRNPISVTDVGRPF
                     TSGQTSVNIQELLLGKNFLNVTTEENLLQEEASYMASDRTYQRETPQVSSL"
     misc_feature    471..545
                     /gene="ZNF805"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5CZA5.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    597..746
                     /gene="ZNF805"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5CZA5.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      9715..9720
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF805"
                     /note="hexamer: AATAAA"
     polyA_site      9737
                     /gene="ZNF805"
                     /note="major polyA site"
     regulatory      10122..10127
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF805"
                     /note="hexamer: ATTAAA"
     regulatory      10143..10148
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF805"
                     /note="hexamer: ATTAAA"
     polyA_site      10151
                     /gene="ZNF805"
     polyA_site      10169
                     /gene="ZNF805"
ORIGIN
        1 ggttccgtcc acgccggctc tagggagggg gcggtgttcc gtggccgcct ccctggcggc
       61 gctggggaaa tgagcaggta ggaggccgac agcgacctcc gcgtctcgga gcgaaccgtg
      121 agcctccccg taacgagaga gtttgactgt cagccaaggt caccgggccc ggcgcaggga
      181 aggggtgggg ctcggctgag cccgcgagac ccgccctgct cgccgcagcc cccgccccgc
      241 tagggccaca gggtcccggt atggcgatgg ctttgacgga cccggcgcag gtgtctgtga
      301 cctttgatga tgtggctgtg actttcaccc aggaggagtg gggccagctg gacctagctc
      361 agcggaccct gtaccaggag gtgatgctgg aaaactgtgg gctcctggta tctctggggt
      421 gtcctgttcc cagacctgag ctgatctacc acctagagca tgggcaggag ccatggacca
      481 ggaaggaaga cctctcccaa ggcacctgtc caggtgacaa aggaaaaccc aagagcacag
      541 aacctaccac ctgtgagcta gccttgtctg aaggaatctc tttttgggga caactaacac
      601 aaggagcttc aggggactcc cagttggggc aacccaagga tcaggatggg ttttcagaaa
      661 tgcagggaga acgcttgaga ccagggttag attcccaaaa ggagaagctt cctggaaaaa
      721 tgagccccaa acatgatggt ttagggacag ctgatagtgt gtgttcaagg attatacagg
      781 atcgagtctc cttaggagat gatgtccatg actgtgactc acatggatca ggtaaaaatc
      841 cagttattca ggaagaggaa aatatcttta aatgcaatga atgtgaaaaa gtgtttaaca
      901 agaaacgcct gcttgctcgg catgagagga ttcactctgg agtgaagccc tatgaatgca
      961 cagagtgtgg aaaaaccttt agcaagagta catacctcct gcagcaccac atggtccaca
     1021 ctggggagaa gccctataag tgcatggagt gtgggaaggc ttttaatcgg aagtcacacc
     1081 ttacccagca ccagcggatt cacagtggag agaagcctta taagtgcagt gaatgtggaa
     1141 aggccttcac ccaccgctcc acttttgtct tgcataacag gagccacact ggagaaaaac
     1201 cctttgtgtg caaagagtgt ggcaaagcct ttcgagatag gccaggtttc attcgacact
     1261 acatcatcca cagtggtgag aatccctacg agtgcttcga atgtggcaag gtcttcaaac
     1321 acagatcata cctcatgtgg caccagcaga ctcataccgg ggagaagccc tatgagtgca
     1381 gtgaatgtgg gaaggccttc tgtgagagcg cagcgctgat tcaccactat gtcatccaca
     1441 ctggagagaa gccctttgag tgcctcgagt gtgggaaggc tttcaaccac cgatcctacc
     1501 tcaaaaggca ccagcggatt cacactgggg agaagccata tgtgtgtagt gaatgcggaa
     1561 aggccttcac ccactgctct actttcatct tgcataaaag ggcccacact ggagaaaaac
     1621 ctttcgagtg caaagagtgt gggaaagcct ttagcaatag ggcagacctc attcgccact
     1681 tcagcatcca cactggagag aagccctatg agtgcatgga gtgtggaaag gccttcaacc
     1741 gcaggtcagg cctcacaagg caccagcgga ttcatagtgg agagaagccc tatgaatgca
     1801 tcgagtgtgg gaaaacattt tgctggagca caaacctcat tcgacactct atcatccaca
     1861 ctggagagaa gccgtatgag tgcagtgaat gtggaaaggc cttcagtcgc agctcgtccc
     1921 tcactcagca tcaaaggatg catactggga gaaatcctat cagtgtaaca gatgtgggaa
     1981 gaccttttac aagtgggcag acctcagtca acatccaaga acttttattg gggaaaaact
     2041 ttttgaatgt caccactgag gaaaatcttt tgcaagagga agcatcttac atggcatctg
     2101 atcgtacata ccaaagagaa accccacaag tgtcttcact gtgagaaaac cttctgttgc
     2161 caaatgtcat ttgtcaccta aggagtcata ttagaaaatc acgcagctta gagccttatt
     2221 ctccatccga attcatcctg gaaaaacacc cagtggttat tacgcacttg ggaaaacctt
     2281 tagctccatc tttctcatta gtttacagtg caatgttatc tcaggaattt ttataaacag
     2341 aaagaggtga catagaaaag aaaatgaaat gcagacactg cttttatact gttgtcttgt
     2401 atgtacattt ctgtcctgtg tcaggaaagt tagtaaggga aggtctggaa acttactcaa
     2461 tgtctttgtt ctacaacatt gtctcttctt aagaagcatt gtttttatga gaaataatga
     2521 agccttgagt tatgaaatac ttttatattt aaggattaaa agaaacatga atgcgcacat
     2581 tttattgtac cacttaatac tgtttaggtc tttgattttt taaaaaaatt cttttttaat
     2641 gggttttaaa cactaacact gagaattttt cttgattccc atctgttggt ttacttgatt
     2701 gctatagctg tatggtaaat ctcaaaatta ggtaatgtga tttctttttt cttactattt
     2761 ttatttaaaa ttcatttagc attcctagtt tgactttcca tatacacttt aggattggtt
     2821 tttctgtttt tcaaatattc ttgcttggat tttgatagaa attgagttaa atctatagat
     2881 caatgtgttg gaaattggca tcttagtctt ccaattcatg aacatagcct atcttttcat
     2941 tatttaaatt ttctttgata tatttcatta ctgttttata gtttacacag tataactcct
     3001 gcacatttaa aataagaatt atagctgcat agttttttga gtgattgtaa atggcattga
     3061 tatttaaagt ttcaatattc acatgatgtt ggctagtata cagaaacatt attttttcaa
     3121 tcttattttg ctgtcttgca accttcctaa actcattatt tcttgccatt tcttttggga
     3181 gaatccttag gattttaaat atagaaatgt catttgcaat ttgggacagt tttatttctt
     3241 gcttcccatc tgtatacctt ttatttgctt ttctcatgtt attgtactag gtaggatttc
     3301 cagtgtgatg ttgaatacga atagtgacaa gttatccatg ccttgttcct gatattaggg
     3361 ggaaatgttc agtttctcat tattatgatg ttgaaagttg cttccaaaga gtttctctat
     3421 cgagtttaga aagtttccct ctattcctaa tttgctggga tttttttggt tattattaat
     3481 aagtgttgaa ttttgtcata tgctttttct ccaccaattg atttaattat gtgatgttac
     3541 ttctatagtc agttgatatg atgtgttacc ttgattgagt ttcaagtatt gaaccagcct
     3601 cacatctttg tgataagccc tacttgatca tggagtataa ttttgtttgt gtactatgct
     3661 acagtatttc atttgctagt attttgttga ggaagctttc ctctgatttc atgagtgata
     3721 atctgtagtt ttctttcttc aactgttact gtttggtttt gatgtctaga tgataactaa
     3781 cctcctaaca tgaattggaa ggaattctct tctgtttttt tggaagatca tgtgtagaat
     3841 tggtgttatt tgttccttta atgtttggta gctttctcca gtgaagaagt gggacctgga
     3901 gattttcctt ttgaatgctt tttaattatg tatttatttt atttaatagg tatagaacta
     3961 ttcagagtat ttcatattgg atgaattttt atagattttc ttaaggaagt gttcatttta
     4021 tgtaaatgtt ctaatttgta gcattctttg aaatatttcc ttttatcctc ttgatggcag
     4081 caggatctgt acttatgttc cttgttgtat tcttgatatt ggaaatgtat cacttattat
     4141 tgtcagtctt tgtagacata tgtcaatttc attgatcatt tcaaagaaat agcactttat
     4201 atcactgatt tttctccagt ctctgttctt aatttcactg atatctgctc tgatgtgtat
     4261 tgtatccttt ctcctacttg ctctggttgt atttgactca gtggtttcct gacgtggatg
     4321 tttaggttat tgatttgagg ctttttttct tttttaatat aagctttaag ttctatacat
     4381 ttttcttaca ctgctgttag tttcatccca caagtcttaa tatgcttttg attatcttac
     4441 tcagttctaa gattgcctga ttccttttga gacatcttct ctaacccagg aattatttag
     4501 aagtatattg tttaatagtg tttggagtat tccctgctat ttgttattga tttctaattt
     4561 gttttgcatt tgatgttact gttgaaattt gttgactttt tttccttatg acccaggata
     4621 taggctgtct tgttttacat agctgcttga aaagaatgtg tgttctcggt catttggtgg
     4681 agtttctgta aaagtttgta tgatcctgtt agttggtggt gttatttagg tctcctgtat
     4741 ccttgctgat tttctgtcta gtatttctat caattgccaa gagaaggatg ttgaagtcct
     4801 gagctataat tgtggaatta cctattcctc ctttaagttc tatcagtttt tgctccacat
     4861 aatttaaagc tctgttgttt ggtatataca catgtaggtt tgcttagtat tcttggtgta
     4921 ttgacccttt tataattaag taatgtccct ttttgttcct gttaatactc ttatcaattt
     4981 ttatctgata tttgtgtggt cagtcttacg ttttggttaa tgcttgcatg atttacactt
     5041 catcattttt ttaaacctta tctatatcac tatattggga gtaagtttct tgtgaatggc
     5101 gtatatttgg gctgtggttt tatatccagt ttgcgtatct tttttttttt tttttttttt
     5161 ttttgagacg gagttttgtt cttgttgccc aggctggagt ggagtggtgc gatctccgct
     5221 cactgcaacc tccgcctcct gggttcaagt gattctcctg cctcaggctc ttgagtagct
     5281 gggattacag gcatccgcca ccatgcctga ctgatttttt gtatttttag tagagatgga
     5341 gtttcaccat gttggccagg ctggtctcga actcctgacc tcaggtgatc cacctgcctc
     5401 agcctcccaa agtgctagga ttactggtat gagcaaccac gcacagcatt tttttttttt
     5461 tttttttttt gagacggagt cttgctctgt cgccctggct ggagtgcagt ggcgcagtct
     5521 gcaacctctg cctcccgggt tcaagccatt ctcttgcctc agcctcccaa gtagctggga
     5581 ttacaggtgc ctgccaccac acctagctaa tttttatatt tttagtagag acggggtttc
     5641 atcatgttgg tcaggctggt ctcaaactcc tgacctcagg tgatctgccc acctcagcct
     5701 cccaaagtgc tgggattaca ggtatgtgtc actgtgtctg gccccagttt gcatatttct
     5761 gtcttttatt ggtgtattta gaccatttaa agtttacaat aattatgtta gtgctatgtc
     5821 tgctatttta tgattagttt tttgtgtttc ctgttgcttc tttcttggtt tgtttgggtt
     5881 tttttttttt tgtctttaac attttttaga attccatttg atatatttgt agtgtttttt
     5941 aaatatattt ctttgtattt ttgtattaat tttttagtgg ttgctttaag tagtataatg
     6001 tacatatgta acataattac agttaatggt atgaaaaatt tagcactttg atgtatagaa
     6061 accttacttg gtcccttcac cttgcctgtt aatataattg tctaaagtaa ttcctcttca
     6121 aaattgagca ccatgttgga aaatgtaatt tttgcttcca ctgtcaaata tattttacaa
     6181 aagtcacagg aagtattgct tgttgatctc tttacccatt ccactattct ttcttgaaat
     6241 tctaagccac cttctattaa cattttcttt ctgtttggcg aacttgtgta accttttttc
     6301 tagggtcagt ctgctggtgt ctctaaaagt gtctttatgt tcccttcatt cctgagggat
     6361 atttttgtgg gataatagga tttagggtct gcagttcttt tagtacttga gaaacatgtt
     6421 tgttccttct gtccgctatg gtttcagatg agaaatctgt tgccatttga accattgttc
     6481 cctagttcat aatgtgccat ttttatcaac ctgcgttcaa agtgttttgt tttttttgta
     6541 gtgttcagaa gtttggttat gaggtgtgtg acatggaatt tttttgagtg tatcatgttt
     6601 ggtttttgtt tagctttttg atttgtcggt ttatgccctt tgccaaattt gggaattttt
     6661 aaccattatt tcttgaaata ttttttcatc cctactcttt ctcctctctg tgatatgaat
     6721 ggtagagctt ttgttactgt ctcagaggtc tcttgtgctt tcatgtttac cccctttttc
     6781 tggtctattt ttcccttttt ttcatattgg ttaatttctg ttgacttttt ttcagctcac
     6841 tgattctttt tttctgccat atgcagtcta ctgttgagct tgtccaatga gttttcgttt
     6901 tggtttttgt atttttcagt tgtttaattt ccatttgttt tgttttgttt tgttttgttt
     6961 ttttgagaca gactctttgc tctgttgccc aggctggagt gcagtggcgc gatctctgct
     7021 cactgcaagc tctgcctccc gggttcatgc cattctcctg cctcagcctc ccgagtagct
     7081 gggactacag gtgcccgcca ccatgcccgg ctaatttttt gtatttttag tagagacggg
     7141 gtttcactgt gttagccagg atggtctcga tttcctgatc tggtgatcca cctgcctcgg
     7201 cctcccgaag tgctgggatt acaggtgtga gccactgtgc ctggcctcca tttggttctt
     7261 ttgtacatct ttgatttctt tgcttagttt ataatactaa agggctcaga aaacagaaaa
     7321 aactaaattc cagagtcatg gttttctggt ggtttgtctc aatatttgaa tagaaatcct
     7381 aaattatctg gaggagtaga agtcctgtaa tcttttatat tgggcttctt aaatatttct
     7441 gtcaacagat cttatatcag ggtgatctgc atatcattca gagttacgta ctccacggga
     7501 aggttgtatg taaaatcctc cagctctgta agccttgtta tatcctcaat ggagaagggg
     7561 tcattccttt tctaagatca ctcttacact tttttattag acacacacac acccttcccc
     7621 aaccaaactt gtctaagtcc tctgtctttc atactcttgt ttagtcttta acttctcctt
     7681 attaaccagc ttctttccca taatgtatag ctttagtcgg atctcaagcc tcgtttccaa
     7741 cctatttcac ccttccttgc ctatcaagct ctggttattc tttcttccac acacatgccc
     7801 tgagtaacta ttctgtgcac tgtcgccacc cctttacatt tccttttact ccccagatac
     7861 tactaaatgg cttccaccac cgttgcctga cttaagcacg tctcagaaag gtcccttttg
     7921 accccctcac tctctttttg gacctccata ctgctaaatc tctgacttga aggtcctttc
     7981 ctggcttctg tgaattcctg gcttttttcc tttttagggt ctgtgtcttt cttccatctg
     8041 taaaacagct ttacttccca gcatccatca tgatcattgc tgttttctaa cttgtccttc
     8101 accccatgac tgagttaatt tgcgctgaag acactttact ctcaattatc tacagtgttt
     8161 ccctaaatct gtgtctccag gttggatgtt tctcatgtcg ttaaccactg gtcatccttc
     8221 cacacctttt ctgtatttgc actcactgag cctatatgca tgtatcatgt ggccatgacc
     8281 ttggccgtgg ggatgcaccc ataatcatca taagagaaca caaattatta ctgtgtatca
     8341 gacattgttt cgaatgtttt acatgcgtca gctcttttaa cctttatgac aactccataa
     8401 tgttatttcc cccctttaac tgattagaaa actgaggtac agaaagatta aggaatttgt
     8461 caaagatttc acaattatga aatttgggtt tggggactgg aagccactgc actggcttca
     8521 gaatccatgt ccttaaccac tttattgctt ctcataaggt gggtctttgt ttcctggtca
     8581 tcacttgttt ttactaaaat gggtcaaact gtgctcattt atttataatc tactattctt
     8641 atttgacagt acatcttggc cattccttca agcaaatgag ataaaccaga ctcactcttt
     8701 aatgcctgca taagctattg tgactgtaga aaagacggag aatgtctggg tttgaggata
     8761 tgtgggaggg gtggggagaa ggagtagaga agggctaagg catgcatgtt gttttaggtg
     8821 tgtttgagat gcctgaagaa catcagtgta tccccctaat ttctgtcatg ttactcaaac
     8881 cagacacatt gtggccattt ctttttcctt tatcattccc acgtccggcc actgccccat
     8941 tcctttttgt tccgtagtag accctcaata tatatgtgtg tgttggtaaa tggccataca
     9001 cagcagggta ttttttatta ttattttcag ttccctcagc gcgtttacca caaagctgtg
     9061 catataggtg gcaccatata tggcgtacct tgacctcgaa gagaatctac atggactttt
     9121 atggacctac gtacacaatt ttagaaatca taataaatga atgctggagt cctcaagacc
     9181 ccttccagat ttgatttgct aggaagactc acaggactca gcattttgtc atactcaatg
     9241 gctatgattt accacaccga aagaatccag agcaaactca gcaaaaggct caaacccaag
     9301 tccagaggaa accaggcaca atctttgaga atcttaatga aatcacacag gatgtgcttc
     9361 attgaagctc catctgggac ttaaaacaac acacgtgaga tgtgttccag gaagtcgtct
     9421 tgagcaccca ttgctcagag tttatattgg acttgctttc tagcacatac cacaattgta
     9481 gacctccaga agaacaggag gtgttcagcg taagacaatt taggcacacg gagctacttc
     9541 tcattactgg gaacaatggg aaacttccca aaacctaaag tacagactcc agccaaggat
     9601 gaaccttgca agatcaaaga atagcagtct ctggcctgct ctgttctctt tttcacagta
     9661 acttaaatgg aaaaatgctg agttagctta agtttctgta acaaacatta agcaaataaa
     9721 attttctata acagaaataa gccatagctt tgagatgaag gcttatatac gtgtaaacca
     9781 ttgtaaccaa gaaaaaaaaa aaaagtcaga gtcacagtga aaatacttaa caaactagcc
     9841 aggatttaat tcagtgatga cagggaacag aggaagtctt gtgagaaagg atcttgcctc
     9901 tgcctagtat ctttcacaga taggcttcaa gtggtttgat ttgcagatac accctttctt
     9961 ggcctttatt tcggcaaaga tgtgatgggt aggtaaatgc cgtgttcttt ccctagcacg
    10021 tatgtcagtt tctcatccac tctttgttct tgctattgaa agttgtagct tctggctaca
    10081 acagagatag ttgaagaata tggagttcgc cataatttat cattaaatgt ggataatttg
    10141 agattaaaga atatgttgtt gcaggctta
//
LOCUS       NM_001023567            5607 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens golgin A8 family member B (GOLGA8B), transcript variant
            1, mRNA.
ACCESSION   NM_001023567
VERSION     NM_001023567.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5607)
  AUTHORS   Li Z, Li Y, Li N, Shen L and Liu A.
  TITLE     Silencing GOLGA8B inhibits cell invasion and metastasis by
            suppressing STAT3 signaling pathway in lung squamous cell carcinoma
  JOURNAL   Clin Sci (Lond) 136 (11), 895-909 (2022)
   PUBMED   35593117
  REMARK    GeneRIF: Silencing GOLGA8B inhibits cell invasion and metastasis by
            suppressing STAT3 signaling pathway in lung squamous cell carcinoma.
REFERENCE   2  (bases 1 to 5607)
  AUTHORS   Solouki AM, Verhoeven VJ, van Duijn CM, Verkerk AJ, Ikram MK, Hysi
            PG, Despriet DD, van Koolwijk LM, Ho L, Ramdas WD, Czudowska M,
            Kuijpers RW, Amin N, Struchalin M, Aulchenko YS, van Rij G, Riemslag
            FC, Young TL, Mackey DA, Spector TD, Gorgels TG, Willemse-Assink JJ,
            Isaacs A, Kramer R, Swagemakers SM, Bergen AA, van Oosterhout AA,
            Oostra BA, Rivadeneira F, Uitterlinden AG, Hofman A, de Jong PT,
            Hammond CJ, Vingerling JR and Klaver CC.
  TITLE     A genome-wide association study identifies a susceptibility locus
            for refractive errors and myopia at 15q14
  JOURNAL   Nat Genet 42 (10), 897-901 (2010)
   PUBMED   20835239
REFERENCE   3  (bases 1 to 5607)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   4  (bases 1 to 5607)
  AUTHORS   Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K, Whittaker
            CA, Kamal M, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Kodira CD,
            Madan A, Qin S, Yang X, Abbasi N, Abouelleil A, Arachchi HM,
            Baradarani L, Birditt B, Bloom S, Bloom T, Borowsky ML, Burke J,
            Butler J, Cook A, DeArellano K, DeCaprio D, Dorris L 3rd, Dors M,
            Eichler EE, Engels R, Fahey J, Fleetwood P, Friedman C, Gearin G,
            Hall JL, Hensley G, Johnson E, Jones C, Kamat A, Kaur A, Locke DP,
            Madan A, Munson G, Jaffe DB, Lui A, Macdonald P, Mauceli E, Naylor
            JW, Nesbitt R, Nicol R, O'Leary SB, Ratcliffe A, Rounsley S, She X,
            Sneddon KM, Stewart S, Sougnez C, Stone SM, Topham K, Vincent D,
            Wang S, Zimmer AR, Birren BW, Hood L, Lander ES and Nusbaum C.
  TITLE     Analysis of the DNA sequence and duplication history of human
            chromosome 15
  JOURNAL   Nature 440 (7084), 671-675 (2006)
   PUBMED   16572171
REFERENCE   5  (bases 1 to 5607)
  AUTHORS   Eystathioy T, Jakymiw A, Fujita DJ, Fritzler MJ and Chan EK.
  TITLE     Human autoantibodies to a novel Golgi protein golgin-67: high
            similarity with golgin-95/gm 130 autoantigen
  JOURNAL   J Autoimmun 14 (2), 179-187 (2000)
   PUBMED   10677249
REFERENCE   6  (bases 1 to 5607)
  AUTHORS   Jakymiw A, Raharjo E, Rattner JB, Eystathioy T, Chan EK and Fujita
            DJ.
  TITLE     Identification and characterization of a novel Golgi protein,
            golgin-67
  JOURNAL   J Biol Chem 275 (6), 4137-4144 (2000)
   PUBMED   10660574
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.106816.1,
            SRR14038194.2954563.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000683415.1/ ENSP00000507830.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC027139.5.
            On Aug 8, 2019 this sequence version replaced NM_001023567.4.
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the functional protein.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5607
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q14"
     gene            1..5607
                     /gene="GOLGA8B"
                     /gene_synonym="GOLGA5"
                     /note="golgin A8 family member B"
                     /db_xref="GeneID:440270"
                     /db_xref="HGNC:HGNC:31973"
                     /db_xref="MIM:609619"
     misc_feature    1196..1198
                     /gene="GOLGA8B"
                     /gene_synonym="GOLGA5"
                     /note="upstream in-frame stop codon"
     CDS             1259..3070
                     /gene="GOLGA8B"
                     /gene_synonym="GOLGA5"
                     /note="golgi autoantigen, golgin subfamily a, 8B;
                     golgin-67"
                     /codon_start=1
                     /product="golgin subfamily A member 8B"
                     /protein_id="NP_001018861.3"
                     /db_xref="CCDS:CCDS45211.1"
                     /db_xref="GeneID:440270"
                     /db_xref="HGNC:HGNC:31973"
                     /db_xref="MIM:609619"
                     /translation="MAEETGQSKLAAAKKKFKEYWQRNRPGVPAAAKRNTKANGSSPET
                     AASGGCHSSEASSSASSSLHARQSPCQEQAAVLNSRSIKISRLNDTIKSLKQQKKQVEH
                     QLEEEKKANNEKQKAERELEGQIQRLNTEKKKLNTDLYHMKHSLRYFEEESKDLAGRLQ
                     RSSQRIGELEWSLCAVAATQKKKPDGFSSRSKALLKRQLEQSIREQILLKGHVTQLKES
                     LKEVQLERDQYAEQIKGERAQWQQRMRKMSQEVCTLKEEKKHDTHRVEELERSLSRLKN
                     QMAEPLPPDAPAVSSEVELQDLRKELERVAGELQAQVENNQCISLLNRGQKERLREQEE
                     RLQEQQERLREREKRLQQLAEPQSDLEELKHENKSALQLEQQVKELQEKLGQVMETLTS
                     AEKEPEAAVPASGTGGESSGLMDLLEEKADLREHVEKLELGFIQYRRERCHQKVHRLLT
                     EPGDSAKDASPGGGHHQAGPGQGGEEGEAAGAAGDGVAACGSYSEGHGKFLAAARNPAA
                     EPSPGAPAPQELGAADKHGDLCEASLTNSVEPAQGEAREGSSQDNPTAQPVLQLLGEMQ
                     DHQEHPGLGSNCCVPCFCWAWLPRRRR"
     misc_feature    1259..1504
                     /gene="GOLGA8B"
                     /gene_synonym="GOLGA5"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MQT2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1541..1633
                     /gene="GOLGA8B"
                     /gene_synonym="GOLGA5"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MQT2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2450..2515
                     /gene="GOLGA8B"
                     /gene_synonym="GOLGA5"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MQT2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2636..2734
                     /gene="GOLGA8B"
                     /gene_synonym="GOLGA5"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MQT2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2729..3067
                     /gene="GOLGA8B"
                     /gene_synonym="GOLGA5"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MQT2.2);
                     Region: Golgi-targeting domain"
     regulatory      5028..5033
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GOLGA8B"
                     /gene_synonym="GOLGA5"
                     /note="hexamer: AAGAAA"
     polyA_site      5048
                     /gene="GOLGA8B"
                     /gene_synonym="GOLGA5"
                     /note="major polyA site"
     regulatory      5405..5410
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GOLGA8B"
                     /gene_synonym="GOLGA5"
                     /note="hexamer: ATTAAA"
     polyA_site      5424
                     /gene="GOLGA8B"
                     /gene_synonym="GOLGA5"
                     /note="major polyA site"
     regulatory      5582..5587
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GOLGA8B"
                     /gene_synonym="GOLGA5"
                     /note="hexamer: AATAAA"
     polyA_site      5607
                     /gene="GOLGA8B"
                     /gene_synonym="GOLGA5"
ORIGIN
        1 attcagcttc cgggctaatt agcagtcgcg gtgtgccgct acgtgcgggc tctcaaggag
       61 ctcagcctcc cggacggagc cggcggctgc ggggcgagga cggcggcgga ccggggcagc
      121 cccgcgccct ggccagctct actgagatga agaaagaaaa agaatacctg ctcagctcca
      181 gagacacgta aagggacaga gattggggga cagaaggaag tgcattaatt ccttccacga
      241 cccctgaaga gcagcggtgg gtctgagcat cctatctcca ggaagcaggc cagcaggcaa
      301 gccagctgcc acctcgtcct gtgcaaagca caggcaccgt ccccaaaaga tttccaaaga
      361 tgatgttaaa cccagccacg gttctgatct ccaggaaagc aattgctgtg gtacaaaagg
      421 acaagggtta aaagagaaca gtgggagctc tctttcccaa ctaactcacg cagtgtgacg
      481 cagaggcttt cagcacagcc cagggtgccc gggactgaaa actccttcac cagccccctc
      541 cacaggatat agaagactta gatcactacg agatgaaagc agagcccatt agtgggaaaa
      601 agttggagga tgaaggaatt gaaaaagaaa atttggcaat attagagaaa ttaggaagac
      661 tgaaagacaa gagcatttaa ctgcaaactg ttgtcgttgt caactgggtt gtcttcctga
      721 agtatgaatc cggtatgtat tgtgtggagg agcattacgt actgaacttc tcacaaaaca
      781 gggctgaagc agtgcctact cgacagaacc ggtcatcgta caaagaaatg ccacgtgact
      841 caaaggcaaa gccagagtgc agcttggagc aaagaagatg atgtctcact ctgtcaccca
      901 agatggagtg caatggcacg atctcagctc actgcaacct ctgcctccca ggttcaagca
      961 attatcctgc ctcagccacc cgagtagctg agattacagg cctctgccac catgctcagc
     1021 tattttttgt atttttagta gagacggggt ttcaccatgt tgggcaggct agtcttggaa
     1081 ctactgacct caggtgatcc gcccactttg gcctcccgaa agtgctggga ttacagtcat
     1141 gagccaccat gcccagccta tttatttctg attctttaag ggtgactgga tgtgttgatc
     1201 agcgctcgct gggatttggc tgacgtggcc ccagccccgc ctccctcccc accccacaat
     1261 ggcagaagaa actggacaga gtaaattagc tgcagccaag aaaaagttca aagaatattg
     1321 gcagagaaac cgccctggtg ttccagcagc agcgaagagg aacacgaaag caaatggcag
     1381 tagccctgag acggccgctt ctggtggttg ccactcatct gaggcttcct cctccgcctc
     1441 ctcctctctg catgcgcgtc agagcccgtg ccaagaacaa gcagcagtcc tgaactcgag
     1501 gtccataaaa atcagtcgac tgaatgacac catcaaatct ttgaaacaac agaagaaaca
     1561 agtggaacat cagctggaag aagaaaagaa agcaaacaat gagaaacaga aagctgaaag
     1621 ggagctagag ggtcaaatcc agagattgaa cacagagaaa aagaaactaa atacggacct
     1681 gtatcacatg aaacattctc tcagatactt tgaagaagag tccaaggatc tggccggccg
     1741 cctgcaacgt tcatcgcagc gtataggaga gttagagtgg tctctctgtg ctgtcgccgc
     1801 cacacagaag aagaagccgg atgggttctc gagccgcagt aaagcacttc tcaagcggca
     1861 gttagagcag tccatacggg agcagatact gctgaaagga cacgtgacac agttgaagga
     1921 gtcgcttaaa gaagtccagc tggagagaga tcaatatgct gaacaaataa aaggagagag
     1981 ggcccagtgg cagcagagga tgaggaaaat gtcgcaggag gtttgcacat tgaaggagga
     2041 gaagaagcat gatacgcatc gggtagagga gctggagagg agcttgtcca gactcaaaaa
     2101 ccagatggct gagccactgc ccccggatgc cccagcagtg tcctctgagg tggagctgca
     2161 agacctgagg aaggagctgg agagagtggc aggagagctc caggctcagg tggaaaacaa
     2221 tcagtgcatc agtctcctga accgtgggca aaaggagagg cttcgcgagc aggaggagag
     2281 gcttcaggag cagcaggaga ggcttcggga acgggagaag aggcttcagc agctggccga
     2341 gccacagagc gacttggagg agctgaagca cgagaacaag agcgcactgc agttggagca
     2401 gcaagtaaag gagctgcagg agaagctggg ccaggtgatg gagacgctca cctcggccga
     2461 gaaggagcca gaggcagcag tcccagcctc agggactggg ggcgagtcta gcggccttat
     2521 ggacctcctg gaggagaagg cggacctgag ggagcatgtg gagaaactgg aacttggatt
     2581 catccagtac cggagagaga gatgccatca gaaagtacat cgccttctaa cagagccagg
     2641 ggacagtgcc aaagatgcgt caccgggagg aggccatcat caggctggcc caggacaagg
     2701 aggagaggaa ggtgaagctg ctggagctgc aggagatggt gttgcggctt gtggcagcta
     2761 cagcgagggg cacggcaaat tcctggccgc tgcccggaac cctgctgctg aacccagtcc
     2821 aggagcccca gccccccagg agctcggggc tgccgacaag catggtgatc tttgtgaggc
     2881 gagcctcacc aacagcgtgg agcctgcaca aggagaagcc agggagggtt cttcccagga
     2941 caaccctact gcacagccag tcctgcagct ccttggtgag atgcaggacc accaggagca
     3001 cccaggcttg ggcagcaact gctgtgtgcc atgcttttgc tgggcttggc tgccgagaag
     3061 aaggagataa acaccaccat catcaaagag ctgctcaaga aatttttaaa aacgaaacaa
     3121 agttatgggg ttaatctcct acacaattca tttacttcat ttgaatgtta gagctactca
     3181 tgattatttg tgtttctaat ttatagttta agtttatttg taaaaagtta aaagagagtg
     3241 ggtctctgtg cctctcactg atgttcactc tggcatcctt tagcattttt cttttttcat
     3301 ttcataattg taggtcatta gcatgcatat cgagtttgcc cttacgtggt gggagttcaa
     3361 acacacaaag acccactctt tgcacaaaac tgttctcgct ggtttggaat aggctcccgt
     3421 gcttttttaa tgttattgca gcatggatgt tcattacaga attcagataa aatttgctaa
     3481 tgttctgcta tgatgtttga tctcatctta atcacagtga gctcttccat agctcaatat
     3541 gcggtttgcc ctcaagtgtg cactgtttat tactttgtaa tatgccacta tgagtactga
     3601 cacttagagc tgtttaaagg ccgagaactg gaaacagcct ttcctccatt ttctgtgtat
     3661 tggtgatggg agtgataacc ttttggggga gctttctaaa tctcgcagaa gaggaaagtg
     3721 gcctgctctg gcaggtatgt gcaggataca gtgtgtttca tctgttccgg tgccaagaat
     3781 gagcactgta ctgtggcagt tccctttgga tttgtatgtg ctctgggctc atgaagatat
     3841 tgcatcgtga gctgcagcag ttgcactctt tttcagtgac ctaaaaatgg cttatttccg
     3901 aggaatgaaa ggctgccatc gttggctgtg gatgtggaaa acctttccta gcttagagca
     3961 tttgtatcta caatacattt taaagtcaga gttcgtgttc cctgttttaa tcacatgact
     4021 acctgtccca gtacacgaaa gggcgctggt tggcattctt cttaatgtat ttagtaaaga
     4081 tcataagaca tcctttaaga gtttaaatgt ctctgaaaca ggcatacagg ctctagtcaa
     4141 gaatgaatta gagtgaagga aagctgtgtg acacctggca ttcctctctg ttcatggagc
     4201 ttctttgagg cttgaagttt gattttacta tctagacctc tctggctaat acctattctt
     4261 caaccacctc ggttactctg acataggaat ttacttcttt tccttgagtg gaaaacactt
     4321 tagaaaataa taacaaacat tattataaac taatatatgt gagagtactt agttgaaaca
     4381 aaaaggaatt ttagtagaca gtattatatt atctttgaaa atcaaggaga agtttatgca
     4441 actgaaaatg tttacacact gtgctgcaat ctactgtttg tgaatgtcaa tgtattatca
     4501 ggaaacatgt ctatacgatc gcagagttgt atttcctcac aaacttcttt acgaagagtg
     4561 aaatatgttt ttgtacctct cagtttcagt cagggacata ttttgtgcaa tatttctgtg
     4621 attgtgccta tgcgtgatga gtgaatgcat ttcaatcata cattgcctaa atcataactt
     4681 gatgatgctt gggaaagaat caacagttaa aacttcatga agttctaatg tctgtgttcc
     4741 aaaacacatc acattattag gttgtaggga gatatgtatg tgtgctccct ggggtgggga
     4801 gttttctagt tactagacca tctccatttt tagcacttgg cagcctcatg atccttttat
     4861 aaataggaga ttaacaggag agcagcaata cgattttgcc aatggaataa cagatttgcc
     4921 ggcattcact gaaagagggc agatattggg tccttgtgac ttcaactgac tcttccgaat
     4981 tgtatgaatt tatcaatgta ttagataaac ccagtttcag aataataaag aaaaaatatt
     5041 agaccaaata atgtggctaa tagtggtatg atttctagcc cgtgggttta aaactgtatc
     5101 ctaaagagtc attttaaaat aatataaata tttaaaagtg taactgctat ctttatgttc
     5161 tgaaataagt taaaacattt taaaatatga atactgtagt ttaaaagaaa gaaatggtgg
     5221 gaaggaaaag tagagaaaga aatgccaatt ccagtccaaa gctttgtttg ccaagttttc
     5281 ttagaatgaa ttttaccaat gtatgggttc ttgttaacag aatgtgtaac agaaatactg
     5341 aaagactttt gcctaaagtg gcattattga ctgctggtgt gatgctactg taatgtgata
     5401 aattattaaa ttgttgcaaa gtgctgtttt tgccttaaaa ttttattttg cgcatcttga
     5461 aaattatagt attaaaggta ttgatactgt gcaaatactg ggcatgcttg gcatgagata
     5521 atctgtttca ttttcacaaa attgtagtat aactatgcaa gtgtttatta aaagaacaca
     5581 aaataaaaaa ggtatgggat taaaaaa
//
LOCUS       NM_001023570            2577 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens IQ motif containing B1 (IQCB1), transcript variant 1,
            mRNA.
ACCESSION   NM_001023570
VERSION     NM_001023570.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2577)
  AUTHORS   Yahalom C, Volovelsky O, Macarov M, Altalbishi A, Alsweiti Y,
            Schneider N, Hanany M, Khan MI, Cremers FPM, Anteby I, Banin E,
            Sharon D and Khateb S.
  TITLE     SENIOR-LOKEN SYNDROME: A Case Series and Review of the Renoretinal
            Phenotype and Advances of Molecular Diagnosis
  JOURNAL   Retina 41 (10), 2179-2187 (2021)
   PUBMED   33512896
  REMARK    GeneRIF: SENIOR-LOKEN SYNDROME: A Case Series and Review of the
            Renoretinal Phenotype and Advances of Molecular Diagnosis. Review
            article
REFERENCE   2  (bases 1 to 2577)
  AUTHORS   Ben S, Zhu Q, Chen S, Li S, Du M, Xin J, Chu H, Zhang Z and Wang M.
  TITLE     Genetic variations in the CTLA-4 immune checkpoint pathway are
            associated with colon cancer risk, prognosis, and immune
            infiltration via regulation of IQCB1 expression
  JOURNAL   Arch Toxicol 95 (6), 2053-2063 (2021)
   PUBMED   33847778
  REMARK    GeneRIF: Genetic variations in the CTLA-4 immune checkpoint pathway
            are associated with colon cancer risk, prognosis, and immune
            infiltration via regulation of IQCB1 expression.
REFERENCE   3  (bases 1 to 2577)
  AUTHORS   le Maire A, Weber T, Saunier S, Broutin I, Antignac C, Ducruix A and
            Dardel F.
  TITLE     Solution NMR structure of the SH3 domain of human nephrocystin and
            analysis of a mutation-causing juvenile nephronophthisis
  JOURNAL   Proteins 59 (2), 347-355 (2005)
   PUBMED   15723349
REFERENCE   4  (bases 1 to 2577)
  AUTHORS   Mollet G, Silbermann F, Delous M, Salomon R, Antignac C and Saunier
            S.
  TITLE     Characterization of the nephrocystin/nephrocystin-4 complex and
            subcellular localization of nephrocystin-4 to primary cilia and
            centrosomes
  JOURNAL   Hum Mol Genet 14 (5), 645-656 (2005)
   PUBMED   15661758
REFERENCE   5  (bases 1 to 2577)
  AUTHORS   Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U,
            O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno
            D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I,
            Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P,
            He S, Kispert A, Margolis B, Williams DS, Swaroop A and Hildebrandt
            F.
  TITLE     Nephrocystin-5, a ciliary IQ domain protein, is mutated in
            Senior-Loken syndrome and interacts with RPGR and calmodulin
  JOURNAL   Nat Genet 37 (3), 282-288 (2005)
   PUBMED   15723066
  REMARK    GeneRIF: nephrocystin-5, RPGR and calmodulin can be
            coimmunoprecipitated from retinal extracts, and that these proteins
            localize to connecting cilia of photoreceptors and to primary cilia
            of renal epithelial cells
REFERENCE   6  (bases 1 to 2577)
  AUTHORS   Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler
            G, Milford D, Nayir A, Rizzoni G, Antignac C and Saunier S.
  TITLE     The gene mutated in juvenile nephronophthisis type 4 encodes a novel
            protein that interacts with nephrocystin
  JOURNAL   Nat Genet 32 (2), 300-305 (2002)
   PUBMED   12244321
  REMARK    Erratum:[Nat Genet 2002 Nov;32(3):459]
REFERENCE   7  (bases 1 to 2577)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   30285347
REFERENCE   8  (bases 1 to 2577)
  AUTHORS   Stokman,M., Lilien,M. and Knoers,N.
  TITLE     Nephronophthisis-Related Ciliopathies
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   27336129
REFERENCE   9  (bases 1 to 2577)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301743
REFERENCE   10  (bases 1 to 2577)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301475
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.151591.1,
            SRR1803612.123746.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000310864.11/ ENSP00000311505.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY714228.1, AY964668.1,
            BX393165.2, D25278.1 and AC119736.7.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001023570.3.
            Summary: This gene encodes a nephrocystin protein that interacts
            with calmodulin and the retinitis pigmentosa GTPase regulator
            protein. The encoded protein has a central coiled-coil region and
            two calmodulin-binding IQ domains. It is localized to the primary
            cilia of renal epithelial cells and connecting cilia of
            photoreceptor cells. The protein is thought to play a role in
            ciliary function. Defects in this gene result in Senior-Loken
            syndrome type 5. Alternative splicing results in multiple
            transcript variants. A pseudogene of this gene is found on
            chromosome 6. [provided by RefSeq, Jan 2016].
            Transcript Variant: This variant (1) encodes the longer isoform
            (a). Variants 1 and 4 encoded the same isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2577
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.33"
     gene            1..2577
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="IQ motif containing B1"
                     /db_xref="GeneID:9657"
                     /db_xref="HGNC:HGNC:28949"
                     /db_xref="MIM:609237"
     misc_feature    92..94
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="upstream in-frame stop codon"
     CDS             197..1993
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="isoform a is encoded by transcript variant 1; p53
                     and DNA damage-regulated IQ motif protein; nephrocystin 5;
                     IQ calmodulin-binding motif-containing protein 1"
                     /codon_start=1
                     /product="IQ calmodulin-binding motif-containing protein 1
                     isoform a"
                     /protein_id="NP_001018864.2"
                     /db_xref="CCDS:CCDS33837.1"
                     /db_xref="GeneID:9657"
                     /db_xref="HGNC:HGNC:28949"
                     /db_xref="MIM:609237"
                     /translation="MKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSSE
                     LKKIKQDIYCYDLIQYCLLVLSQDYSRIQGGWTTISQLTQILSHCCVGLEPGEDAEEFY
                     NELLPSAAENFLVLGRQLQTCFINAAKAEEKDELLHFFQIVTDSLFWLLGGHVELIQNV
                     LQSDHFLHLLQADNVQIGSAVMMMLQNILQINSGDLLRIGRKALYSILDEVIFKLFSTP
                     SPVIRSTATKLLLLMAESHQEILILLRQSTCYKGLRRLLSKQETGTEFSQELRQLVGLL
                     SPMVYQEVEEQKLHQAACLIQAYWKGFQTRKRLKKLPSAVIALQRSFRSKRSKMLLEIN
                     RQKEEEDLKLQLQLQRQRAMRLSRELQLSMLEIVHPGQVEKHYREMEEKSALIIQKHWR
                     GYRERKNFHQQRQSLIEYKAAVTLQRAALKFLAKCRKKKKLFAPWRGLQELTDARRVEL
                     KKRVDDYVRRHLGSPMSDVVSRELHAQAQERLQHYFMGRALEERAQQHREALIAQISTN
                     VEQLMKAPSLKEAEGKEPELFLSRSRPVAAKAKQAHLTTLKHIQAPWWKKLGEESGDEI
                     DVPKDELSIELENLFIGGTKPP"
     misc_feature    197..667
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15051.1);
                     Region: Interaction with BBS1, BBS8 and BBS9.
                     /evidence=ECO:0000269|PubMed:25552655"
     misc_feature    1055..1990
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15051.1);
                     Region: Interaction with CEP290, BBS1, BBS2, BBS4, BBS5,
                     BBS7, BBS8 and BBS9. /evidence=ECO:0000269|PubMed:25552655"
     misc_feature    1784..1990
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15051.1);
                     Region: Interaction with BBS1, BBS2, BBS4, BBS7, BBS8 and
                     BBS9. /evidence=ECO:0000269|PubMed:25552655"
     misc_feature    1910..1912
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q15051.1); phosphorylation site"
     regulatory      2314..2319
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="hexamer: AATAAA"
     polyA_site      2344
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="major polyA site"
     regulatory      2555..2560
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="hexamer: ATTAAA"
     polyA_site      2577
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="major polyA site"
ORIGIN
        1 gcgtcgcgac gcacgctgcc ccggaaggcc gcggcgctgt agtgcggcgt gggagcccca
       61 ggttctttag tggaagaacg cgaagcgagg atgagtgatc cgtggaggca gtaacaggcg
      121 cggcgaggga gaagtgattc ccgaagaatc aaggctgggc cggacccggt ggcctggcaa
      181 cagggtaata agagaaatga agccaacagg tacagaccca aggatcttat ctatagctgc
      241 tgaagttgca aaaagccctg agcagaatgt ccctgttata ctgttgaagt taaaagaaat
      301 aataaacatc acacctttag gaagctcaga gttgaagaaa atcaaacaag atatatattg
      361 ttatgatctc attcaatatt gcctcttggt cctcagtcaa gattattctc gaatccaggg
      421 tggttggact acaatttccc agcttacaca gatattaagc cattgctgtg tgggcttgga
      481 gccaggagaa gatgcagagg aattttacaa tgaattactt ccatcagctg cagaaaattt
      541 tctagttttg gggagacaat tacaaacatg ttttatcaat gcagctaagg ctgaagaaaa
      601 agatgaatta ctacactttt tccaaattgt gactgattct ctcttctggc ttttgggagg
      661 ccatgttgaa cttattcaga atgtactaca aagtgatcat ttcttacatt tactgcaagc
      721 tgacaatgtc caaataggat ctgcagtcat gatgatgcta cagaatatac tacagatcaa
      781 cagtggtgat ttactcagaa taggaagaaa agccctgtat tcaattttag atgaagttat
      841 tttcaagctt ttttcaactc ctagtccagt tataagaagt actgctacaa aactcctact
      901 gttgatggct gaatcccatc aggaaatttt gattttactg agacaaagta cctgctacaa
      961 aggactcaga cgtctactaa gtaaacagga aactgggact gaattcagtc aagaacttag
     1021 acagcttgtt ggccttttaa gcccaatggt ctatcaggaa gtagaagagc agaaactaca
     1081 tcaagcagca tgcttgattc aagcctattg gaagggtttt cagacaagaa agagattaaa
     1141 gaagcttcca tctgctgtga ttgctttgca gaggagtttc agatccaaac gatcaaagat
     1201 gttgctggag ataaataggc agaaggaaga agaggacctc aaattacaat tgcaacttca
     1261 aagacagaga gccatgagac tttcccgaga attgcagctg agtatgctcg aaatagttca
     1321 tccaggtcag gtggagaaac actatcggga aatggaagag aaatcagcac tgattatcca
     1381 gaaacattgg agagggtaca gggaaaggaa aaattttcac caacagaggc agtctctcat
     1441 agagtataaa gcagctgtca cacttcaaag agcagcgctt aaattcctag cgaagtgccg
     1501 taagaaaaag aaactatttg ctccttggcg aggactccaa gaactcactg atgcacgccg
     1561 agttgaactg aagaaacgag tggatgacta tgtcagaaga catttgggct ctccaatgtc
     1621 agatgtggtc agtagggagc tccatgccca agctcaagaa cgactgcaac actactttat
     1681 gggcagggcc ctagaagagc gagcccagca gcacagagaa gctctgatag cacagatcag
     1741 caccaacgtt gaacagctaa tgaaggcacc aagtctgaag gaggcagaag ggaaagaacc
     1801 tgagctcttc ctaagtagat ccaggcctgt ggcagccaag gccaagcagg cccatctcac
     1861 aaccctgaag cacatacaag caccctggtg gaagaagctt ggagaagaat ctggagatga
     1921 gattgatgtt ccaaaggatg agcttagtat agaattagaa aatttattca ttggtggaac
     1981 caaaccacct tagtgagtaa ccctaagaat tgacacaaat ctcatatttt aggagattat
     2041 attggttctg cctctggcat gctggtagac tagggccatc ctaacttatt attttccaga
     2101 ggttctcctc cagacaagac ctgcagtaag caaagagtta tattctacct ctctctcaat
     2161 tttctttttc ttttctctgt atcctcatcg ttagccacac acagatttgt gtggctttta
     2221 ttgtagaact aaacttagca tagtgttctg ttgtttacat gaagtgtgtt tttctttggt
     2281 ttcttctgtt ttccaactaa atattttttt ctaaataaat attttcaaca attgatttga
     2341 aaaatttgtc aggattattt caacttttca catttgttat ctgaaattcc tatttcctgt
     2401 taacatagga ggtgtgtgca gactttatta atgtgaggaa aagaaatgct caattgaagg
     2461 acatttccct gttttctata aagcaatggt tgaactcatt ttctattttg ttatttctaa
     2521 aaggaactgc ataccaaaaa aatgcattct ttctattaaa ctgtgagaac tacataa
//
LOCUS       NM_001024                358 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S21 (RPS21), mRNA.
ACCESSION   NM_001024
VERSION     NM_001024.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 358)
  AUTHORS   Xia R, Hu C, Ye Y, Zhang X, Li T, He R, Zheng S, Wen X and Chen R.
  TITLE     HNF1A regulates oxaliplatin resistance in pancreatic cancer by
            targeting 53BP1
  JOURNAL   Int J Oncol 62 (4) (2023)
   PUBMED   36825600
  REMARK    GeneRIF: HNF1A regulates oxaliplatin resistance in pancreatic cancer
            by targeting 53BP1.
REFERENCE   2  (bases 1 to 358)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 358)
  AUTHORS   Sherstnev VV, Gruden MA, Karlina VP, Ryzhov VM, Kuznetsova AV and
            Senko OV.
  TITLE     Serum Level of HLDF24 Peptide as an Objective Marker of
            Prehypertension
  JOURNAL   Bull Exp Biol Med 168 (3), 305-308 (2020)
   PUBMED   31938910
  REMARK    GeneRIF: Serum Level of HLDF24 Peptide as an Objective Marker of
            Prehypertension.
REFERENCE   4  (bases 1 to 358)
  AUTHORS   Arthurs C, Murtaza BN, Thomson C, Dickens K, Henrique R, Patel HRH,
            Beltran M, Millar M, Thrasivoulou C and Ahmed A.
  TITLE     Expression of ribosomal proteins in normal and cancerous human
            prostate tissue
  JOURNAL   PLoS One 12 (10), e0186047 (2017)
   PUBMED   29016636
  REMARK    GeneRIF: The results show that RPS19, RPS21 or RPS24 are upregulated
            in malignant tissue and may serve as putative biomarkers for
            prostate cancer. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 358)
  AUTHORS   Autenshlyus AI, Kunts TA, Mikhaylova ES, Varaksin NA, Bogachuk AP
            and Lipkin VM.
  TITLE     Specific effect of the HLDF differentiation factor on the cytokine
            production potential of immunocompetent blood cells in stomach
            adenocarcinoma
  JOURNAL   Dokl Biol Sci 469 (1), 199-201 (2016)
   PUBMED   27595831
  REMARK    GeneRIF: Specific effects of HLDF+PA were manifested as an increase
            in the production of IL-8, IL-17, and GM-CSF due to suppression of
            Th1-dependent immune reactions in a Th17-mediated mechanism that is
            a part of a broader functional antagonism of Th1 and Th17 lymphocyte
            subpopulations.
REFERENCE   6  (bases 1 to 358)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   7  (bases 1 to 358)
  AUTHORS   Kostanian,I.A., Astapova,M.V., Starovoitova,E.V., Dranitsyna,S.M.
            and Lipkin,V.M.
  TITLE     [A new differentiation factor from culture media of the HL-60 cell
            line treated with retinoic acid. Isolation and primary structure
            determination]
  JOURNAL   Bioorg Khim 21 (4), 243-248 (1995)
   PUBMED   7786314
REFERENCE   8  (bases 1 to 358)
  AUTHORS   Kostanyan IA, Astapova MV, Starovoytova EV, Dranitsina SM and Lipkin
            VM.
  TITLE     A new human leukemia cell 8.2 kDa differentiation factor: isolation
            and primary structure
  JOURNAL   FEBS Lett 356 (2-3), 327-329 (1994)
   PUBMED   7805865
REFERENCE   9  (bases 1 to 358)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   10  (bases 1 to 358)
  AUTHORS   Bhat KS and Morrison SG.
  TITLE     Primary structure of human ribosomal protein S21
  JOURNAL   Nucleic Acids Res 21 (12), 2939 (1993)
   PUBMED   8332502
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BM794524.1, BP317659.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000343986.9/ ENSP00000345957.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BM840443.1, L04483.1 and CF124568.1.
            On Nov 22, 2018 this sequence version replaced NM_001024.3.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S21E family of ribosomal proteins. It is located in the
            cytoplasm. Alternative splice variants that encode different
            protein isoforms have been described, but their existence has not
            been verified. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..358
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.33"
     gene            1..358
                     /gene="RPS21"
                     /gene_synonym="eS21; HLDF; S21"
                     /note="ribosomal protein S21"
                     /db_xref="GeneID:6227"
                     /db_xref="HGNC:HGNC:10409"
                     /db_xref="MIM:180477"
     misc_feature    2
                     /gene="RPS21"
                     /gene_synonym="eS21; HLDF; S21"
                     /note="predominant transcription initiation site"
     CDS             53..304
                     /gene="RPS21"
                     /gene_synonym="eS21; HLDF; S21"
                     /note="40S ribosomal protein S21; 8.2 kDa differentiation
                     factor; human leukemia differentiation factor"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS21"
                     /protein_id="NP_001015.1"
                     /db_xref="CCDS:CCDS13497.1"
                     /db_xref="GeneID:6227"
                     /db_xref="HGNC:HGNC:10409"
                     /db_xref="MIM:180477"
                     /translation="MQNDAGEFVDLYVPRKCSASNRIIGAKDHASIQMNVAEVDKVTGR
                     FNGQFKTYAICGAIRRMGESDDSILRLAKADGIVSKNF"
     misc_feature    53..55
                     /gene="RPS21"
                     /gene_synonym="eS21; HLDF; S21"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.6,
                     ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378, ECO:0007744|PubMed:25944712;
                     propagated from UniProtKB/Swiss-Prot (P63220.1);
                     acetylation site"
     misc_feature    293..295
                     /gene="RPS21"
                     /gene_synonym="eS21; HLDF; S21"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P63220.1); acetylation site"
     regulatory      340..345
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS21"
                     /gene_synonym="eS21; HLDF; S21"
                     /note="hexamer: AATAAA"
     polyA_site      358
                     /gene="RPS21"
                     /gene_synonym="eS21; HLDF; S21"
                     /note="major polyA site"
ORIGIN
        1 cctttctctc tcgcgcgcgg tgtggtggca gcaggcgcag cccagcctcg aaatgcagaa
       61 cgacgccggc gagttcgtgg acctgtacgt gccgcggaaa tgctccgcta gcaatcgcat
      121 catcggtgcc aaggaccacg catccatcca gatgaacgtg gccgaggttg acaaggtcac
      181 aggcaggttt aatggccagt ttaaaactta tgctatctgc ggggccattc gtaggatggg
      241 tgagtcagat gattccattc tccgattggc caaggccgat ggcatcgtct caaagaactt
      301 ttgactggag agaatcacag atgtggaata tttgtcataa ataaataatg aaaaccta
//
LOCUS       NM_001024209             679 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens small proline rich protein 2E (SPRR2E), mRNA.
ACCESSION   NM_001024209
VERSION     NM_001024209.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 679)
  AUTHORS   Kainu K, Kivinen K, Zucchelli M, Suomela S, Kere J, Inerot A, Baker
            BS, Powles AV, Fry L, Samuelsson L and Saarialho-Kere U.
  TITLE     Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on
            1q shows heterogeneity between Finnish, Swedish and Irish families
  JOURNAL   Exp Dermatol 18 (2), 109-115 (2009)
   PUBMED   18643845
  REMARK    GeneRIF: Association of psoriasis to PGLYRP and SPRR genes at PSORS4
            locus on 1q shows heterogeneity between Finnish, Swedish and Irish
            families.
REFERENCE   2  (bases 1 to 679)
  AUTHORS   Hong SH, Nah HY, Lee JY, Lee YJ, Lee JW, Gye MC, Kim CH, Kang BM and
            Kim MK.
  TITLE     Estrogen regulates the expression of the small proline-rich 2 gene
            family in the mouse uterus
  JOURNAL   Mol Cells 17 (3), 477-484 (2004)
   PUBMED   15232223
REFERENCE   3  (bases 1 to 679)
  AUTHORS   Cabral A, Voskamp P, Cleton-Jansen AM, South A, Nizetic D and
            Backendorf C.
  TITLE     Structural organization and regulation of the small proline-rich
            family of cornified envelope precursors suggest a role in adaptive
            barrier function
  JOURNAL   J Biol Chem 276 (22), 19231-19237 (2001)
   PUBMED   11279051
REFERENCE   4  (bases 1 to 679)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N, Klika
            A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   5  (bases 1 to 679)
  AUTHORS   Song HJ, Poy G, Darwiche N, Lichti U, Kuroki T, Steinert PM and
            Kartasova T.
  TITLE     Mouse Sprr2 genes: a clustered family of genes showing differential
            expression in epithelial tissues
  JOURNAL   Genomics 55 (1), 28-42 (1999)
   PUBMED   9888996
REFERENCE   6  (bases 1 to 679)
  AUTHORS   Tarcsa E, Candi E, Kartasova T, Idler WW, Marekov LN and Steinert
            PM.
  TITLE     Structural and transglutaminase substrate properties of the small
            proline-rich 2 family of cornified cell envelope proteins
  JOURNAL   J Biol Chem 273 (36), 23297-23303 (1998)
   PUBMED   9722562
REFERENCE   7  (bases 1 to 679)
  AUTHORS   Steinert PM and Marekov LN.
  TITLE     The proteins elafin, filaggrin, keratin intermediate filaments,
            loricrin, and small proline-rich proteins 1 and 2 are isodipeptide
            cross-linked components of the human epidermal cornified cell
            envelope
  JOURNAL   J Biol Chem 270 (30), 17702-17711 (1995)
   PUBMED   7543090
REFERENCE   8  (bases 1 to 679)
  AUTHORS   Gibbs S, Fijneman R, Wiegant J, van Kessel AG, van De Putte P and
            Backendorf C.
  TITLE     Molecular characterization and evolution of the SPRR family of
            keratinocyte differentiation markers encoding small proline-rich
            proteins
  JOURNAL   Genomics 16 (3), 630-637 (1993)
   PUBMED   8325635
REFERENCE   9  (bases 1 to 679)
  AUTHORS   Kartasova T and van de Putte P.
  TITLE     Isolation, characterization, and UV-stimulated expression of two
            families of genes encoding polypeptides of related structure in
            human epidermal keratinocytes
  JOURNAL   Mol Cell Biol 8 (5), 2195-2203 (1988)
   PUBMED   3133554
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M20030.1, DA761491.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368750.8/ ENSP00000357739.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BE714447.1, DA761769.1,
            DA761491.1 and BG185829.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001024209.3.
            Summary: This gene encodes a member of a family of small
            proline-rich proteins clustered in the epidermal differentiation
            complex on chromosome 1q21. The encoded protein, along with other
            family members, is a component of the cornified cell envelope that
            forms beneath the plasma membrane in terminally differentiated
            stratified squamous epithelia. This envelope serves as a barrier
            against extracellular and environmental factors. The seven SPRR2
            genes (A-G) appear to have been homogenized by gene conversion
            compared to others in the cluster that exhibit greater differences
            in protein structure. [provided by RefSeq, Feb 2014].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..679
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..679
                     /gene="SPRR2E"
                     /note="small proline rich protein 2E"
                     /db_xref="GeneID:6704"
                     /db_xref="HGNC:HGNC:11265"
                     /db_xref="MIM:617588"
     misc_feature    48..50
                     /gene="SPRR2E"
                     /note="upstream in-frame stop codon"
     CDS             63..281
                     /gene="SPRR2E"
                     /note="SPR-2E; SPR-II; small proline-rich protein II"
                     /codon_start=1
                     /product="small proline-rich protein 2E"
                     /protein_id="NP_001019380.2"
                     /db_xref="CCDS:CCDS30866.1"
                     /db_xref="GeneID:6704"
                     /db_xref="HGNC:HGNC:11265"
                     /db_xref="MIM:617588"
                     /translation="MSYQQQQCKQPCQPPPVCPTPKCPEPCPPPKCPEPCPPPKCPQPC
                     PPQQCQQKCPPVTPSPPCQPKCPPKSK"
     misc_feature    63..122
                     /gene="SPRR2E"
                     /note="propagated from UniProtKB/Swiss-Prot (P22531.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    123..203
                     /gene="SPRR2E"
                     /note="propagated from UniProtKB/Swiss-Prot (P22531.2);
                     Region: 3 X 9 AA tandem repeats of P-K-C-P-[EQ]-P-C-P-P"
     misc_feature    186..278
                     /gene="SPRR2E"
                     /note="propagated from UniProtKB/Swiss-Prot (P22531.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      657..662
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPRR2E"
                     /note="hexamer: AATAAA"
     polyA_site      679
                     /gene="SPRR2E"
                     /note="major polyA site"
ORIGIN
        1 taaactcctg gtacttgagc actgatctgc tttggagaac ctgattctga gactccagca
       61 ggatgtctta tcaacagcag cagtgcaagc agccctgcca gccacctcct gtgtgcccca
      121 cgccaaagtg cccagagcca tgtccacccc cgaagtgccc tgagccctgc ccaccaccaa
      181 agtgtccaca gccctgccca cctcagcagt gccagcaaaa atgtcctcct gtgacacctt
      241 ccccaccctg ccagccaaag tgtccaccca agagcaagta acagcttcag aattcatcag
      301 gagcatgaaa ggataaggat aattggctca ccttgttcca cagcttcacc tgcatcttct
      361 catcaaagcc taccatggat acacagttag cttctttcct cttagccagt gatctgccca
      421 tgatgatccc tgatagcaaa aggtttcctt tctgaggctg ccatattgcc actgtccagg
      481 tggagactga gaaaggaagt cctcagcagt gtcagttccc agagctttgg aagaaggacc
      541 agcagctctg tccctgggaa ccatcaaaaa atgctgttga tgttttctgt gtctgtctgt
      601 cacctgggca tgggcttcta acacctgtgc aattgtcact tttctttcac tccctgaata
      661 aaatatcttt gcatacgta
//
LOCUS       NM_001024211             477 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens S100 calcium binding protein A13 (S100A13), transcript
            variant 3, mRNA.
ACCESSION   NM_001024211
VERSION     NM_001024211.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 477)
  AUTHORS   Li T, Xu Y, Shi Y, Chen J, Lin S, Zhu J, Xu X, Lu L and Zou H.
  TITLE     Genome-wide analysis of DNA methylation identifies S100A13 as an
            epigenetic biomarker in individuals with chronic (>/= 30 years) type
            2 diabetes without diabetic retinopathy
  JOURNAL   Clin Epigenetics 12 (1), 77 (2020)
   PUBMED   32493412
  REMARK    GeneRIF: Genome-wide analysis of DNA methylation identifies S100A13
            as an epigenetic biomarker in individuals with chronic (>/= 30
            years) type 2 diabetes without diabetic retinopathy. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 477)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 477)
  AUTHORS   Al-Mutairy EA, Imtiaz FA, Khalid M, Al Qattan S, Saleh S, Mahmoud
            LM, Al-Saif MM, Al-Haj L, Al-Enazi A, AlJebreen AM, Mohammed SF,
            Mobeireek AF, Alkattan K, Chisti MA, Luzina IG, Al-Owain M, Weheba
            I, Abdelsayed AM, Ramzan K, Janssen LJ, Conca W, Alaiya A, Collison
            KS, Meyer BF, Atamas SP, Khabar KS, Hasday JD and Al-Mohanna F.
  TITLE     An atypical pulmonary fibrosis is associated with co-inheritance of
            mutations in the calcium binding protein genes S100A3 and S100A13
  JOURNAL   Eur Respir J 54 (1), 1802041 (2019)
   PUBMED   31073086
  REMARK    GeneRIF: An atypical pulmonary fibrosis is associated with
            co-inheritance of mutations in the calcium binding protein genes
            S100A3 and S100A13. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 477)
  AUTHORS   Su Y, Xu C, Sun Z, Liang Y, Li G, Tong T and Chen J.
  TITLE     S100A13 promotes senescence-associated secretory phenotype and
            cellular senescence via modulation of non-classical secretion of
            IL-1alpha
  JOURNAL   Aging (Albany NY) 11 (2), 549-572 (2019)
   PUBMED   30670674
  REMARK    GeneRIF: These findings unveil a critical role of the non-classical
            secretory pathway of IL-1alpha in cellular senescence and SASP
            regulation.
REFERENCE   5  (bases 1 to 477)
  AUTHORS   Miao S, Qiu T, Zhao Y, Wang H, Sun X, Wang Y, Xuan Y, Qin Y and Jiao
            W.
  TITLE     Overexpression of S100A13 protein is associated with tumor
            angiogenesis and poor survival in patients with early-stage
            non-small cell lung cancer
  JOURNAL   Thorac Cancer 9 (9), 1136-1144 (2018)
   PUBMED   30047626
  REMARK    GeneRIF: High S100A13 expression is closely associated with high
            intratumoral angiogenesis and poor prognosis in patients with stage
            I NSCLC. Immunohistochemical evaluation of S100A13 expression, along
            with an examination of the perioperative extent of angiolymphatic
            invasion, has value for predicting prognosis.
REFERENCE   6  (bases 1 to 477)
  AUTHORS   Mouta Carreira C, LaVallee TM, Tarantini F, Jackson A, Lathrop JT,
            Hampton B, Burgess WH and Maciag T.
  TITLE     S100A13 is involved in the regulation of fibroblast growth factor-1
            and p40 synaptotagmin-1 release in vitro
  JOURNAL   J Biol Chem 273 (35), 22224-22231 (1998)
   PUBMED   9712836
REFERENCE   7  (bases 1 to 477)
  AUTHORS   Wicki R, Marenholz I, Mischke D, Schafer BW and Heizmann CW.
  TITLE     Characterization of the human S100A12 (calgranulin C, p6, CAAF1,
            CGRP) gene, a new member of the S100 gene cluster on chromosome 1q21
  JOURNAL   Cell Calcium 20 (6), 459-464 (1996)
   PUBMED   8985590
REFERENCE   8  (bases 1 to 477)
  AUTHORS   Wicki R, Schafer BW, Erne P and Heizmann CW.
  TITLE     Characterization of the human and mouse cDNAs coding for S100A13, a
            new member of the S100 protein family
  JOURNAL   Biochem Biophys Res Commun 227 (2), 594-599 (1996)
   PUBMED   8878558
REFERENCE   9  (bases 1 to 477)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH,
            Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   10  (bases 1 to 477)
  AUTHORS   Schafer BW, Wicki R, Engelkamp D, Mattei MG and Heizmann CW.
  TITLE     Isolation of a YAC clone covering a cluster of nine S100 genes on
            human chromosome 1q21: rationale for a new nomenclature of the S100
            calcium-binding protein family
  JOURNAL   Genomics 25 (3), 638-643 (1995)
   PUBMED   7759097
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AL702514.1, BU752831.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000476133.6/ ENSP00000507299.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162258.12 and BX470102.12.
            On Sep 29, 2020 this sequence version replaced NM_001024211.1.
            Summary: The protein encoded by this gene is a member of the S100
            family of proteins containing 2 EF-hand calcium-binding motifs.
            S100 proteins are localized in the cytoplasm and/or nucleus of a
            wide range of cells, and involved in the regulation of a number of
            cellular processes such as cell cycle progression and
            differentiation. S100 genes include at least 13 members which are
            located as a cluster on chromosome 1q21. This protein is widely
            expressed in various types of tissues with a high expression level
            in thyroid gland. In smooth muscle cells, this protein co-expresses
            with other family members in the nucleus and in stress fibers,
            suggesting diverse functions in signal transduction. Multiple
            alternatively spliced transcript variants encoding the same protein
            have been found for this gene. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..477
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..477
                     /gene="S100A13"
                     /note="S100 calcium binding protein A13"
                     /db_xref="GeneID:6284"
                     /db_xref="HGNC:HGNC:10490"
                     /db_xref="MIM:601989"
     misc_feature    46..48
                     /gene="S100A13"
                     /note="upstream in-frame stop codon"
     CDS             85..381
                     /gene="S100A13"
                     /codon_start=1
                     /product="protein S100-A13"
                     /protein_id="NP_001019382.1"
                     /db_xref="CCDS:CCDS30874.1"
                     /db_xref="GeneID:6284"
                     /db_xref="HGNC:HGNC:10490"
                     /db_xref="MIM:601989"
                     /translation="MAAEPLTELEESIETVVTTFFTFARQEGRKDSLSVNEFKELVTQQ
                     LPHLLKDVGSLDEKMKSLDVNQDSELKFNEYWRLIGELAKEIRKKKDLKIRKK"
     misc_feature    178..180
                     /gene="S100A13"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97352; propagated from
                     UniProtKB/Swiss-Prot (Q99584.1); phosphorylation site"
     regulatory      451..456
                     /regulatory_class="polyA_signal_sequence"
                     /gene="S100A13"
                     /note="hexamer: AATAAA"
     polyA_site      477
                     /gene="S100A13"
                     /note="major polyA site"
ORIGIN
        1 actctacccc atctccttgc cgggtcagcc ctgacaaagg tcagctagcc ccttgaggac
       61 atcagctttg gcctcagggt cctaatggca gcagaaccac tgacagagct agaggagtcc
      121 attgagaccg tggtcaccac cttcttcacc tttgcaaggc aggagggccg gaaggatagc
      181 ctcagcgtca acgagttcaa agagctggtt acccagcagt tgccccatct gctcaaggat
      241 gtgggctctc ttgatgagaa gatgaagagc ttggatgtga atcaggactc ggagctcaag
      301 ttcaatgagt actggagatt gattggggag ctggccaagg aaatcaggaa gaagaaagac
      361 ctgaagatca ggaagaagta aagccgcctg gctgagatgg ggtgggcagg gcagagctga
      421 tcagggccga gcagaaccgc actcttccca aataaagctt cctccttgaa acacaaa
//
LOCUS       NM_001024383           10219 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens neuron navigator 3 (NAV3), transcript variant 1, mRNA.
ACCESSION   NM_001024383
VERSION     NM_001024383.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10219)
  AUTHORS   Bugaeva O, Maliniemi P, Prestvik WS, Leivo E, Kluger N, Salava A,
            Virtanen S, Jantti K, Saksela O, Lehti K, Kujala P, Krohn K and
            Ranki A.
  TITLE     Tumour Suppressor Neuron Navigator 3 and Matrix Metalloproteinase 14
            are Co-expressed in Most Melanomas but Downregulated in Thick
            Tumours
  JOURNAL   Acta Derm Venereol 103, adv00883 (2023)
   PUBMED   36883877
  REMARK    GeneRIF: Tumour Suppressor Neuron Navigator 3 and Matrix
            Metalloproteinase 14 are Co-expressed in Most Melanomas but
            Downregulated in Thick Tumours. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 10219)
  AUTHORS   Wang Z, Yang H and Ren L.
  TITLE     MiR-21 promoted proliferation and migration in hepatocellular
            carcinoma through negative regulation of Navigator-3
  JOURNAL   Biochem Biophys Res Commun 464 (4), 1228-1234 (2015)
   PUBMED   26210448
  REMARK    GeneRIF: Together, our findings suggest an important role for miR-21
            in the progression of HCC, which negatively regulated Navigator-3 in
            the migration of HCC.
REFERENCE   3  (bases 1 to 10219)
  AUTHORS   Cohen-Dvashi H, Ben-Chetrit N, Russell R, Carvalho S, Lauriola M,
            Nisani S, Mancini M, Nataraj N, Kedmi M, Roth L, Kostler W, Zeisel
            A, Yitzhaky A, Zylberg J, Tarcic G, Eilam R, Wigelman Y, Will R,
            Lavi S, Porat Z, Wiemann S, Ricardo S, Schmitt F, Caldas C and
            Yarden Y.
  TITLE     Navigator-3, a modulator of cell migration, may act as a suppressor
            of breast cancer progression
  JOURNAL   EMBO Mol Med 7 (3), 299-314 (2015)
   PUBMED   25678558
  REMARK    GeneRIF: The authers propose that NAV3 inhibits breast cancer
            progression by regulating microtubule dynamics, biasing
            directionally persistent rather than random migration, and
            inhibiting locomotion of initiated cells.
REFERENCE   4  (bases 1 to 10219)
  AUTHORS   Chimusa ER, Zaitlen N, Daya M, Moller M, van Helden PD, Mulder NJ,
            Price AL and Hoal EG.
  TITLE     Genome-wide association study of ancestry-specific TB risk in the
            South African Coloured population
  JOURNAL   Hum Mol Genet 23 (3), 796-809 (2014)
   PUBMED   24057671
REFERENCE   5  (bases 1 to 10219)
  AUTHORS   Carlsson E, Krohn K, Ovaska K, Lindberg P, Hayry V, Maliniemi P,
            Lintulahti A, Korja M, Kivisaari R, Hussein S, Sarna S, Niiranen K,
            Hautaniemi S, Haapasalo H and Ranki A.
  TITLE     Neuron navigator 3 alterations in nervous system tumors associate
            with tumor malignancy grade and prognosis
  JOURNAL   Genes Chromosomes Cancer 52 (2), 191-201 (2013)
   PUBMED   23097141
  REMARK    GeneRIF: Data indicate that neuron navigator 3 (NAV3) may be a
            potential new prognostic biomarker and a potential therapeutic
            target.
REFERENCE   6  (bases 1 to 10219)
  AUTHORS   Hahtola S, Burghart E, Jeskanen L, Karenko L, Abdel-Rahman WM,
            Polzer B, Kajanti M, Peltomaki P, Pettersson T, Klein CA and Ranki
            A.
  TITLE     Clinicopathological characterization and genomic aberrations in
            subcutaneous panniculitis-like T-cell lymphoma
  JOURNAL   J Invest Dermatol 128 (9), 2304-2309 (2008)
   PUBMED   18337827
  REMARK    GeneRIF: Allelic NAV3 aberrations (LOH or deletion by FISH were
            identified in 44% of the subcutaneous panniculitis-like T-cell
            lymphoma samples.
REFERENCE   7  (bases 1 to 10219)
  AUTHORS   Karenko L, Hahtola S, Paivinen S, Karhu R, Syrja S, Kahkonen M,
            Nedoszytko B, Kytola S, Zhou Y, Blazevic V, Pesonen M, Nevala H,
            Nupponen N, Sihto H, Krebs I, Poustka A, Roszkiewicz J, Saksela K,
            Peterson P, Visakorpi T and Ranki A.
  TITLE     Primary cutaneous T-cell lymphomas show a deletion or translocation
            affecting NAV3, the human UNC-53 homologue
  JOURNAL   Cancer Res 65 (18), 8101-8110 (2005)
   PUBMED   16166283
  REMARK    Erratum:[Cancer Res. 2008 Sep 15;68(18):7692]
REFERENCE   8  (bases 1 to 10219)
  AUTHORS   Peeters PJ, Baker A, Goris I, Daneels G, Verhasselt P, Luyten WH,
            Geysen JJ, Kass SU and Moechars DW.
  TITLE     Sensory deficits in mice hypomorphic for a mammalian homologue of
            unc-53
  JOURNAL   Brain Res Dev Brain Res 150 (2), 89-101 (2004)
   PUBMED   15158073
REFERENCE   9  (bases 1 to 10219)
  AUTHORS   Maes T, Barcelo A and Buesa C.
  TITLE     Neuron navigator: a human gene family with homology to unc-53, a
            cell guidance gene from Caenorhabditis elegans
  JOURNAL   Genomics 80 (1), 21-30 (2002)
   PUBMED   12079279
REFERENCE   10  (bases 1 to 10219)
  AUTHORS   Coy JF, Wiemann S, Bechmann I, Bachner D, Nitsch R, Kretz O,
            Christiansen H and Poustka A.
  TITLE     Pore membrane and/or filament interacting like protein 1 (POMFIL1)
            is predominantly expressed in the nervous system and encodes
            different protein isoforms
  JOURNAL   Gene 290 (1-2), 73-94 (2002)
   PUBMED   12062803
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AJ488201.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000397909.7/ ENSP00000381007.2
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC138331.4, DR005268.1, AJ488201.1, AC073571.14, AB023155.2,
            AC073608.19 and AV728995.1.
            On Nov 22, 2018 this sequence version replaced NM_001024383.1.
            Summary: This gene belongs to the neuron navigator family and is
            expressed predominantly in the nervous system. The encoded protein
            contains coiled-coil domains and a conserved AAA domain
            characteristic for ATPases associated with a variety of cellular
            activities. This gene is similar to unc-53, a Caenorhabditis
            elegans gene involved in axon guidance. Multiple alternatively
            spliced transcript variants for this gene have been described but
            only one has had its full-length nature determined. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..10219
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.2"
     gene            1..10219
                     /gene="NAV3"
                     /gene_synonym="POMFIL1; STEERIN3; unc53H3"
                     /note="neuron navigator 3"
                     /db_xref="GeneID:89795"
                     /db_xref="HGNC:HGNC:15998"
                     /db_xref="MIM:611629"
     misc_feature    524..526
                     /gene="NAV3"
                     /gene_synonym="POMFIL1; STEERIN3; unc53H3"
                     /note="upstream in-frame stop codon"
     CDS             569..7726
                     /gene="NAV3"
                     /gene_synonym="POMFIL1; STEERIN3; unc53H3"
                     /note="isoform 1 is encoded by transcript variant 1; pore
                     membrane and/or filament interacting like protein 1; unc-53
                     homolog 3"
                     /codon_start=1
                     /product="neuron navigator 3 isoform 1"
                     /protein_id="NP_001019554.1"
                     /db_xref="CCDS:CCDS66432.1"
                     /db_xref="GeneID:89795"
                     /db_xref="HGNC:HGNC:15998"
                     /db_xref="MIM:611629"
                     /translation="MPVLGVASKLRQPAVGSKPVHTALPIPNLGTTGSQHCSSRPLELT
                     ETESSMLSCQLALKSTCEFGEKKPLQGKAKEKEDSKIYTDWANHYLAKSGHKRLIKDLQ
                     QDIADGVLLAEIIQIIANEKVEDINGCPRSQSQMIENVDVCLSFLAARGVNVQGLSAEE
                     IRNGNLKAILGLFFSLSRYKQQQHHQQQYYQSLVELQQRVTHASPPSEASQAKTQQDMQ
                     SSLAARYATQSNHSGIATSQKKPTRLPGPSRVPAAGSSSKVQGASNLNRRSQSFNSIDK
                     NKPPNYANGNEKDSSKGPQSSSGVNGNVQPPSTAGQPPASAIPSPSASKPWRSKSMNVK
                     HSATSTMLTVKQSSTATSPTPSSDRLKPPVSEGVKTAPSGQKSMLEKFKLVNARTALRP
                     PQPPSSGPSDGGKDDDAFSESGEMEGFNSGLNSGGSTNSSPKVSPKLAPPKAGSKNLSN
                     KKSLLQPKEKEEKNRDKNKVCTEKPVKEEKDQVTEMAPKKTSKIASLIPKGSKTTAAKK
                     ESLIPSSSGIPKPGSKVPTVKQTISPGSTASKESEKFRTTKGSPSQSLSKPITMEKASA
                     SSCPAPLEGREAGQASPSGSCTMTVAQSSGQSTGNGAVQLPQQQQHSHPNTATVAPFIY
                     RAHSENEGTALPSADSCTSPTKMDLSYSKTAKQCLEEISGEDPETRRMRTVKNIADLRQ
                     NLEETMSSLRGTQISHSTLETTFDSTVTTEVNGRTIPNLTSRPTPMTWRLGQACPRLQA
                     GDAPSLGAGYPRSGTSRFIHTDPSRFMYTTPLRRAAVSRLGNMSQIDMSEKASSDLDMS
                     SEVDVGGYMSDGDILGKSLRTDDINSGYMTDGGLNLYTRSLNRIPDTATSRDIIQRGVH
                     DVTVDADSWDDSSSVSSGLSDTLDNISTDDLNTTSSVSSYSNITVPSRKNTQLRTDSEK
                     RSTTDETWDSPEELKKPEEDFDSHGDAGGKWKTVSSGLPEDPEKAGQKASLSVSQTGSW
                     RRGMSAQGGAPSRQKAGTSALKTPGKTDDAKASEKGKAPLKGSSLQRSPSDAGKSSGDE
                     GKKPPSGIGRSTATSSFGFKKPSGVGSSAMITSSGATITSGSATLGKIPKSAAIGGKSN
                     AGRKTSLDGSQNQDDVVLHVSSKTTLQYRSLPRPSKSSTSGIPGRGGHRSSTSSIDSNV
                     SSKSAGATTSKLREPTKIGSGRSSPVTVNQTDKEKEKVAVSDSESVSLSGSPKSSPTSA
                     SACGAQGLRQPGSKYPDIASPTFRRLFGAKAGGKSASAPNTEGVKSSSVMPSPSTTLAR
                     QGSLESPSSGTGSMGSAGGLSGSSSPLFNKPSDLTTDVISLSHSLASSPASVHSFTSGG
                     LVWAANMSSSSAGSKDTPSYQSMTSLHTSSESIDLPLSHHGSLSGLTTGTHEVQSLLMR
                     TGSVRSTLSESMQLDRNTLPKKGLRYTPSSRQANQEEGKEWLRSHSTGGLQDTGNQSPL
                     VSPSAMSSSAAGKYHFSNLVSPTNLSQFNLPGPSMMRSNSIPAQDSSFDLYDDSQLCGS
                     ATSLEERPRAISHSGSFRDSMEEVHGSSLSLVSSTSSLYSTAEEKAHSEQIHKLRRELV
                     ASQEKVATLTSQLSANAHLVAAFEKSLGNMTGRLQSLTMTAEQKESELIELRETIEMLK
                     AQNSAAQAAIQGALNGPDHPPKDLRIRRQHSSESVSSINSATSHSSIGSGNDADSKKKK
                     KKNWVNSRGSELRSSFKQAFGKKKSTKPPSSHSDIEELTDSSLPASPKLPHNAGDCGSA
                     SMKPSQSASASPLVWPPKKRQNGPVIYKHRSRICECTEAEAEIILQLKSELREKELKLT
                     DIRLEALSSAHHLDQIREAMNRMQNEIEILKAENDRLKAETGNTAKPTRPPSESSSSTS
                     SSSSRQSLGLSLNNLNITEAVSSDILLDDAGDATGHKDGRSVKIIVSISKGYGRAKDQK
                     SQAYLIGSIGVSGKTKWDVLDGVIRRLFKEYVFRIDTSTSLGLSSDCIASYCIGDLIRS
                     HNLEVPELLPCGYLVGDNNIITVNLKGVEENSLDSFVFDTLIPKPITQRYFNLLMEHHR
                     IILSGPSGTGKTYLANKLAEYVITKSGRKKTEDAIATFNVDHKSSKELQQYLANLAEQC
                     SADNNGVELPVVIILDNLHHVGSLSDIFNGFLNCKYNKCPYIIGTMNQGVSSSPNLELH
                     HNFRWVLCANHTEPVKGFLGRYLRRKLIEIEIERNIRNNDLVKIIDWIPKTWHHLNSFL
                     ETHSSSDVTIGPRLFLPCPMDVEGSRVWFMDLWNYSLVPYILEAVREGLQMYGKRTPWE
                     DPSKWVLDTYPWSSATLPQESPALLQLRPEDVGYESCTSTKEATTSKHIPQTDTEGDPL
                     MNMLMKLQEAANYSSTQSCDSESTSHHEDILDSSLESTL"
     misc_feature    617..682
                     /gene="NAV3"
                     /gene_synonym="POMFIL1; STEERIN3; unc53H3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IVL0.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1175..2443
                     /gene="NAV3"
                     /gene_synonym="POMFIL1; STEERIN3; unc53H3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IVL0.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3197..4504
                     /gene="NAV3"
                     /gene_synonym="POMFIL1; STEERIN3; unc53H3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IVL0.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4619..4678
                     /gene="NAV3"
                     /gene_synonym="POMFIL1; STEERIN3; unc53H3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IVL0.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4796..4972
                     /gene="NAV3"
                     /gene_synonym="POMFIL1; STEERIN3; unc53H3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IVL0.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4943..4945
                     /gene="NAV3"
                     /gene_synonym="POMFIL1; STEERIN3; unc53H3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8IVL0.3); phosphorylation site"
     misc_feature    4955..4957
                     /gene="NAV3"
                     /gene_synonym="POMFIL1; STEERIN3; unc53H3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8IVL0.3); phosphorylation site"
     misc_feature    5516..5902
                     /gene="NAV3"
                     /gene_synonym="POMFIL1; STEERIN3; unc53H3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IVL0.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    6116..6211
                     /gene="NAV3"
                     /gene_synonym="POMFIL1; STEERIN3; unc53H3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IVL0.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    7646..7723
                     /gene="NAV3"
                     /gene_synonym="POMFIL1; STEERIN3; unc53H3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IVL0.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      10194..10199
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAV3"
                     /gene_synonym="POMFIL1; STEERIN3; unc53H3"
                     /note="hexamer: ATTAAA"
     polyA_site      10219
                     /gene="NAV3"
                     /gene_synonym="POMFIL1; STEERIN3; unc53H3"
                     /note="major polyA site"
ORIGIN
        1 gaaatcagga agaacccctg tccttccact gttgtggtct tttggctgct ctgacagttg
       61 gactgaaggg cttttccttt tgattttttc ctctttttca atctcaaagt tcagactcag
      121 actgctttag tgagaaaaaa aaataagcaa aactaagagc tctttaatcc taagaaggag
      181 ctttgtagca gttaccttga agaagagttt actccccaaa ggagtattta gtattactta
      241 gatactgagt cactgaacag agagagagag agagacagag agagagagag agagagagag
      301 acagagagag agagagagag agagaaagag agagagagag agaatgagaa tgaatatgaa
      361 tcccagccag caagaaagaa aagatactta actaaagatg cagggaagtt ttgcctcttc
      421 ctgaaaatta tattattagc tttttaaaaa tcaggatgac tgctagtttt gtttaaagta
      481 tttgttctgg aaatactaaa gttggagtct accagactga ggttagaagc attttctttg
      541 gcagcaagaa gataatttta tagaagccat gcctgttctt ggggttgcct caaaactgag
      601 gcagccagct gttgggtcaa agcctgtgca tactgctctt ccgataccaa atcttggcac
      661 tactgggtca cagcactgtt cttcaagacc tttggaactt actgaaacag agagctccat
      721 gctttcttgt cagcttgcgt taaaatcaac ctgtgaattt ggagagaaga aacccctcca
      781 aggaaaagcc aaggagaaag aagacagcaa gatttacact gactgggcca accactacct
      841 agcaaaatca ggccacaagc ggctgatcaa ggacttgcaa caagacattg cagatggagt
      901 actcctagca gaaatcatcc agattattgc aaatgaaaaa gttgaagata tcaatggatg
      961 tcctagaagt cagtctcaga tgattgaaaa tgttgatgtc tgccttagtt ttctagcagc
     1021 cagaggggta aatgttcaag gtctatctgc tgaagaaata agaaatggaa acttaaaagc
     1081 cattctaggg ctgtttttca gtttatctcg ctacaagcag caacaacacc atcaacaaca
     1141 gtactatcag tccttggtgg aacttcagca gcgagttact cacgcttccc ctccatcgga
     1201 agccagccag gccaaaaccc agcaagatat gcagtccagt ctggcagcca gatatgcaac
     1261 tcagtctaat cacagtggaa ttgcaaccag tcaaaaaaag cctactaggc ttccagggcc
     1321 ctctagggtg cctgctgcag gaagcagcag caaggtccag ggagcctcta atttaaatag
     1381 gagaagtcag agctttaaca gcattgacaa aaacaagcct ccaaattatg caaatggaaa
     1441 cgaaaaagat tcctccaaag gacctcaatc gtcttcaggt gtaaatggta acgtgcagcc
     1501 tcccagtact gctgggcagc ctcctgcctc tgccatccct tctccaagtg ccagcaagcc
     1561 ctggcgcagc aagtccatga atgtcaaaca cagtgccacc tccaccatgt tgactgtaaa
     1621 gcagtcaagt acagccacct cccccacacc atcttcagac agactgaagc cacctgtctc
     1681 agaaggggtc aaaactgctc cctcaggaca gaaatccatg cttgagaaat tcaagctagt
     1741 caatgcccgg actgctttac gccccccgca gcctcccagt tcaggaccta gtgatggtgg
     1801 gaaggatgat gatgcctttt ctgaatctgg tgaaatggaa ggttttaaca gtggtctgaa
     1861 tagtggtggc tcaacaaata gcagtcccaa agtgtcacct aagttggccc ctccaaaagc
     1921 tggaagcaaa aatctcagca ataaaaagtc tttgctacag ccaaaggaaa aagaagaaaa
     1981 gaacagggac aaaaataaag tttgcactga aaaaccagtc aaagaagaga aggatcaggt
     2041 gacagagatg gctccaaaaa agacctccaa aattgcaagc ttgatcccta agggcagcaa
     2101 gacaacagca gctaagaagg aaagcttaat tccgtcttcc agtggtattc caaaaccagg
     2161 ctctaaagtt ccaacagtaa agcaaaccat ttcacctggc agcacagcaa gcaaagagtc
     2221 tgagaaattc aggactacca aggggagccc ttcccagtcc ttatctaagc ctataaccat
     2281 ggagaaagca agtgcttcta gttgtcctgc ccctttggaa ggaagggaag ctggccaagc
     2341 ttctccttct ggttcctgta ccatgacagt ggcacaaagc agtgggcaga gcacaggaaa
     2401 tggtgctgtc caactccctc aacagcagca acatagccac ccgaataccg cgacagtggc
     2461 accattcatt tacagggcac attcagaaaa tgaaggtacc gctttaccat cggctgactc
     2521 ctgtaccagt cctacaaaga tggacttatc atatagtaag actgctaagc agtgcctgga
     2581 ggagatatct ggtgaagacc ctgaaacaag aagaatgaga acagttaaaa acatagcaga
     2641 cttgaggcag aatttagaag agactatgtc cagtcttcgt gggactcaga taagccacag
     2701 caccctggag acaacatttg acagcactgt gacaacagaa gttaatggaa ggaccatacc
     2761 caacttgaca agtcgaccca cccccatgac ctggaggttg ggccaggcat gtccgcgact
     2821 tcaggcggga gatgctccct ccctgggtgc tggctatcct cgcagtggta ccagtcgatt
     2881 catccacaca gacccctcga ggttcatgta taccacgcct ctccgtcgag ctgctgtctc
     2941 taggctggga aacatgtcac agattgacat gagtgagaaa gcaagcagtg acctggacat
     3001 gtcttctgag gtcgatgtgg gtggatatat gagtgatggt gatatccttg ggaaaagtct
     3061 caggactgat gacatcaaca gtgggtacat gacagatgga ggacttaacc tatatactag
     3121 aagtctgaac cgaataccag acacagcaac ttcccgggac atcatccaga gaggggttca
     3181 cgatgtgaca gtggatgcag acagctggga tgacagcagt tcagtgagca gtggtctcag
     3241 tgacaccctt gataacatca gcactgatga cctgaacacc acatcctctg tcagctctta
     3301 ctccaacatc accgtcccct ctaggaagaa tactcagctg aggacagatt cagagaaacg
     3361 ctccaccaca gacgagacct gggatagtcc tgaggaactg aaaaaaccag aagaagattt
     3421 tgacagccat ggggatgctg gtggcaagtg gaagactgtg tcctctggac ttcctgaaga
     3481 ccccgagaag gcagggcaga aagcttccct gtctgtttca cagacaggtt cctggagaag
     3541 aggcatgtct gcccaaggag gggcgccatc taggcagaaa gctggaacaa gtgcactcaa
     3601 aacacccggg aaaaccgatg atgccaaagc ttctgagaaa ggaaaagctc ccctaaaagg
     3661 atcatctcta caaagatctc cttcagatgc aggaaaaagc agtggagatg aagggaaaaa
     3721 gcccccctca ggcattggaa gatcgactgc caccagctcc tttggcttta agaaaccaag
     3781 tggagtaggg tcatctgcca tgatcaccag cagtggagca accataacaa gtggctctgc
     3841 aacactgggt aaaattccaa aatctgctgc cattggcggg aagtcaaatg cagggagaaa
     3901 aaccagtttg gacggttcac agaatcagga tgatgttgtg ctgcatgtta gctcaaagac
     3961 taccctacaa tatcgcagct tgccccgccc ttcaaaatcc agcaccagtg gcattcctgg
     4021 ccgaggaggc cacagatcca gtaccagcag tattgattcc aacgtcagca gcaagtctgc
     4081 tggggccacc acctcgaaac tgagagaacc aactaaaatt gggtcagggc gctcgagtcc
     4141 tgtcaccgtc aaccaaacag acaaggaaaa ggaaaaagta gcagtctcag attcagaaag
     4201 tgtttctttg tcaggttccc ccaaatccag ccccacctct gccagcgcct gtggtgcaca
     4261 aggtctcagg cagccaggat ccaagtatcc agatattgcc tcacccacat ttcgaaggtt
     4321 gtttggtgcc aaggcaggtg gcaaatctgc ctctgcacct aatactgagg gtgtgaaatc
     4381 ttcctcagta atgcccagcc ctagtaccac attagcgcgg caaggcagtc tggagtcacc
     4441 gtcgtccggt acgggcagca tgggcagtgc tggtgggcta agcggcagca gcagccctct
     4501 cttcaataaa ccctcagact taactacaga tgttataagc ttaagtcact cgttggcctc
     4561 cagcccagca tcggttcact ctttcacatc aggtggtctc gtgtgggctg ccaatatgag
     4621 cagttcctct gcaggcagca aggatactcc gagctaccag tccatgacta gcctccacac
     4681 gagctctgag tccattgacc tccccctcag ccatcatggc tccttgtctg gactgaccac
     4741 aggcactcac gaggtccaga gcctgctcat gagaacgggt agtgtgagat ctactctctc
     4801 agaaagcatg cagcttgaca gaaatacact acccaaaaag ggactaagat ataccccatc
     4861 atctcggcag gccaaccaag aagagggcaa agagtggttg cgttctcatt ctactggagg
     4921 gcttcaggac actggcaacc agtcacctct ggtttcccct tctgccatgt catcttctgc
     4981 agctggaaaa taccactttt ctaacttggt gagcccaaca aatttgtctc agtttaacct
     5041 tcccgggccc agcatgatgc gctcaaacag catcccagcc caagactctt ccttcgatct
     5101 ctatgatgac tcccagcttt gtgggagtgc cacttctctg gaggaaagac ctcgtgccat
     5161 cagtcattcg ggctcattca gagacagcat ggaagaagtt catggctctt cattatcact
     5221 ggtgtccagc acttcttctc tttactctac agctgaagaa aaggctcatt cagagcaaat
     5281 ccataaactg cggagagagc tggttgcatc acaagaaaaa gttgctaccc tcacatctca
     5341 gctttcagca aatgctcacc ttgtagcagc ttttgaaaag agcttaggga atatgactgg
     5401 ccgattgcaa agtctaacta tgacagcgga acaaaaggaa tctgaactta tagaactaag
     5461 agaaaccatt gaaatgctga aggctcagaa ttctgctgcc caggcggcta ttcagggagc
     5521 actgaatggt ccagaccatc ctcccaaaga tcttcgcatc agaagacagc attcctctga
     5581 aagtgtttct agtatcaaca gtgccacaag ccattccagt attggcagtg gtaatgatgc
     5641 cgactccaag aagaagaaaa agaaaaactg ggtgaactct agaggaagtg agctgagaag
     5701 ttctttcaaa caagcctttg ggaagaaaaa gtccaccaag cctccttcat cacattctga
     5761 cattgaagag cttactgatt catcccttcc ggcatccccc aagttacccc ataatgctgg
     5821 tgactgtggc tcagcatcca tgaagccctc acaatctgct tcagcgtcac cccttgtctg
     5881 gccaccaaag aaacgacaaa atggccctgt gatctacaag catagatctc ggatctgtga
     5941 atgcacagaa gctgaggcag agataattct gcagctgaag agcgagctca gagaaaagga
     6001 attaaaatta acggatattc ggctggaggc cctcagctct gctcatcatc ttgatcagat
     6061 ccgggaagcc atgaaccgga tgcagaatga aattgaaata ctgaaagctg aaaatgaccg
     6121 gttgaaggca gaaactggta acacagctaa gcctactcgg ccaccgtcag aatcctcaag
     6181 cagcacctcc tcttcatctt ccaggcagtc attaggactt tctctaaaca atttgaacat
     6241 cacagaggct gttagctcag atattttgct agatgatgct ggtgatgcaa ctggacataa
     6301 agatggccgc agtgtgaaaa ttatagtctc cataagcaag ggctatggtc gagcaaagga
     6361 ccaaaaatct caggcatatt tgataggatc cattggtgtt agtggaaaaa ccaagtggga
     6421 tgtcttagat ggtgtaataa gacgtctctt taaggaatat gtattccgaa ttgatacatc
     6481 cactagcctt ggtctgagct ctgactgcat tgctagctac tgtataggag acttaattag
     6541 atcccataac ctagaagtgc ctgaattgct gccttgtgga taccttgttg gagataataa
     6601 catcatcact gtgaacctca aaggggtaga agaaaatagt ttggacagtt ttgtttttga
     6661 tacgctgatt cctaaaccaa ttacccaaag gtactttaac ttgttgatgg agcatcacag
     6721 aattatactc tcaggaccga gtggtactgg aaagacctat ttggcaaaca aacttgctga
     6781 atatgtaata accaaatctg gaaggaaaaa aacagaggat gcaattgcca cttttaatgt
     6841 ggaccacaag tcaagtaagg aattgcaaca atatctagct aacctggctg aacagtgcag
     6901 tgctgataat aatggagtgg agctcccagt tgtaataatt cttgataatc ttcatcatgt
     6961 gggctctctg agtgatatct tcaatggttt tctcaattgt aaatacaaca aatgtccata
     7021 tattattgga acaatgaatc agggagtttc ttcatcacca aatctagagc tgcatcacaa
     7081 tttcaggtgg gtattatgtg caaatcatac agaaccagtg aaaggctttt taggcagata
     7141 tcttcgaaga aaactcatag agatagaaat tgaaaggaac attcgcaata atgacctagt
     7201 caaaattata gattggattc cgaagacgtg gcatcatctc aacagttttt tggaaacaca
     7261 cagttcttct gacgttacca ttggtccccg actattcctt ccttgcccca tggatgtaga
     7321 aggttctaga gtatggttca tggatctctg gaactattct ttagtacctt atattctgga
     7381 ggcagtgaga gagggtcttc agatgtatgg gaaacgcaca ccatgggaag atccttcaaa
     7441 gtgggtgctt gacacatatc catggagctc agcaactctg cctcaggaga gcccagcctt
     7501 acttcagctg cgaccagaag atgttgggta tgaaagctgc acatccacta aggaagccac
     7561 aacctcaaag cacattccgc aaactgacac agaaggagat cccctgatga atatgctaat
     7621 gaaactccaa gaagcagcca attactcgag cacacaaagc tgcgacagcg aaagcaccag
     7681 ccaccatgaa gacattttgg attcatctct tgaatctacc ctctagaggg tgaaaaaagt
     7741 taagggaaaa gactttgctt ttaaaaaaat gtttcaaaag aaaggtattt tcactaaacc
     7801 actgccagta taaaagcacc ctgtcaaggg ccctgaccca gagttgtggt ctccaaggag
     7861 gcagcagaac taagtctgaa ccgccaagat gctaaattgc aatggaagct taactttagt
     7921 ttatttctaa gcatttttta tatctgtgga gtaatagaaa gctccattac tcaactggaa
     7981 aggaccctaa tgacagggca actgaacaga ttgcacatgg gatagccaaa ctggactttc
     8041 tttgtttcct ctttaaaagt ttacaatgca gaccattttt tgtcccttcc ttttgtttcc
     8101 tctgaggggc tgttcgcccc aggcagggtc catctttctg atctgtccaa cctcctttgt
     8161 gccacacggt gctggtcaca gggcttcagt agtgtttgtg ttgtgcgctc accccattcc
     8221 agaacaaatc caagaggcca gtcctccata agcacaaatg gaattgtgca accaccagaa
     8281 aaacactact gtggcaaact ggagaagtgc caatttaatt ctaactgcca cgttctcatg
     8341 atgtgctcca ccaacttttt agtatatgag tcactggttt tataaggttg tttttaccac
     8401 agtggtcttt ttaaaccacc tgcccactcc cttaacaaga gttttatacc aattattagt
     8461 caacactgat aaaaggcttt tttagggctt tatttgtttg agccttttca gtgaaagaag
     8521 gaacatttcc tatggtgctg tctcactgcc ttaaaacaga tttctatgac agtttaacag
     8581 ttggtttaaa tcctaaacca ttggtaattt ccactgtctt ttcatttaca accaagcaac
     8641 accagttaac atagtagcct catctctata tatctttctc tttttttttt ttttgaagaa
     8701 atggatagga gaaagatcag tatttttagc cttgtgaata gatcgctttg cctatcctcc
     8761 aaaatattaa aataacccag aaatgctctt tgaccgtcac ttaaaaccta agacatgtgg
     8821 cgaaattcca tccagttcta agtgaaagag tttcagaagg cagaagattt tgaattatta
     8881 tccagcaggg ctggaagcac tagatgcagc atgagcacaa ctattcggct ttccttccct
     8941 attgtttttg tttttttaat gagttttgac gcatgttgtt ttgattgcta ttgttgtaca
     9001 tgagaaattc agcattaaag aacactgaag cggtaaggtc actgtggaag aggaagcgtt
     9061 tatactgtaa aagaaggtta gatttgcaca gtctactggg taggtattgt aaataataat
     9121 ttttaaaact tgcacaaatc aaaacaaaca caaacaaaat tgtattttat cctgttggtg
     9181 ttaagaggtg tttcacttgc tgagatttcc tgtacattgc aaacaaatac agaatgcaaa
     9241 ccctcaaagc tgtattatct ggtgtgtttg tcctgtattt acagttgttt ttgactatgc
     9301 aggagctatc agtgctagag tgagcatgct tcaaaactgt acatgaagcc aatatatttt
     9361 tggataagta aaactgtctg aaagtacatc tgtcatggca ggctttaaag agagtgcatg
     9421 aaaactgatc agtcattgga gaagttacca ccacacacaa aggacaggtt ttaagtttat
     9481 gaaacccaag ggctaggcca tggtatagac ttcttctatg agtgtgtgaa aatgtgttac
     9541 ttttaggacg tgtatttggt gctactctct gtgaccacca atgggtcagt tgctatagaa
     9601 caacaacacc acgaaacatc tgtgcagttt tcagagtgtc acaaagtcaa taggtcctta
     9661 cacggtgcta ttgccctaag ggaaatccga actgaattta tgcacataga attgtcaccc
     9721 tgactttgaa gcctcaaaca tggatcaaat ctgttgtgaa acatcaatat atgtagctgg
     9781 atgagtgact agtttccctt gtataatatg tgatctaaga aaattgctaa tctttccctg
     9841 ccattttgag aaacacagtc caaacatgag cataaacaga atttcctgca atacatccca
     9901 gtaggtccac ctagtttaca acttaaacta gtttgtgaaa catttgtctg tatacatttt
     9961 atattttgta cattttgatg taacatatca tgtaaatagg cagaaacagt gaaataaatc
    10021 atctgaaaag ttttgtagtc tttgtaaagc cccaacaata agtacttggt gtcaatggac
    10081 ttaactggat gatgtatttt ctattggttt attgttcctc tagcttgtaa accagcttgc
    10141 atatattttt ttgcaaatgt gcaccctgta tctgtctaaa ttattacttt gccattaaag
    10201 tggaattatt tattgacaa
//
LOCUS       NM_001024401            4986 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens SH3 domain binding kinase 1 (SBK1), mRNA.
ACCESSION   NM_001024401
VERSION     NM_001024401.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4986)
  AUTHORS   Chen X, Sun Z, Zhou S, Jiang W, Li J, Song G and Zhu X.
  TITLE     SH3 domain-binding kinase 1 promotes proliferation and inhibits
            apoptosis of cervical cancer via activating the Wnt/beta-catenin and
            Raf/ERK1/2 signaling pathways
  JOURNAL   Mol Carcinog 62 (8), 1147-1162 (2023)
   PUBMED   37132991
  REMARK    GeneRIF: SH3 domain-binding kinase 1 promotes proliferation and
            inhibits apoptosis of cervical cancer via activating the
            Wnt/beta-catenin and Raf/ERK1/2 signaling pathways.
REFERENCE   2  (bases 1 to 4986)
  AUTHORS   Wang P, Guo J, Wang F, Shi T and Ma D.
  TITLE     Human SBK1 is dysregulated in multiple cancers and promotes survival
            of ovary cancer SK-OV-3 cells
  JOURNAL   Mol Biol Rep 38 (5), 3551-3559 (2011)
   PUBMED   21104019
  REMARK    GeneRIF: Results suggest that the wide-spread expression pattern of
            human SBK1 may predict a broad cellular function, and its
            dysregulation in certain cancers suggests an involvement of the
            protein in the pathogenesis of human cancers.
REFERENCE   3  (bases 1 to 4986)
  AUTHORS   Nara K, Akasako Y, Matsuda Y, Fukazawa Y, Iwashita S, Kataoka M and
            Nagai Y.
  TITLE     Cloning and characterization of a novel serine/threonine protein
            kinase gene expressed predominantly in developing brain
  JOURNAL   Eur J Biochem 268 (9), 2642-2651 (2001)
   PUBMED   11322885
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY874862.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148874,
            SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000341901.5/ ENSP00000343248.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY874862.2.
            On Nov 23, 2018 this sequence version replaced NM_001024401.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4986
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.1"
     gene            1..4986
                     /gene="SBK1"
                     /gene_synonym="SBK"
                     /note="SH3 domain binding kinase 1"
                     /db_xref="GeneID:388228"
                     /db_xref="HGNC:HGNC:17699"
                     /db_xref="MIM:620212"
     misc_feature    697..699
                     /gene="SBK1"
                     /gene_synonym="SBK"
                     /note="upstream in-frame stop codon"
     CDS             784..2058
                     /gene="SBK1"
                     /gene_synonym="SBK"
                     /EC_number="2.7.11.1"
                     /note="SH3-binding domain kinase 1"
                     /codon_start=1
                     /product="serine/threonine-protein kinase SBK1"
                     /protein_id="NP_001019572.1"
                     /db_xref="CCDS:CCDS32416.1"
                     /db_xref="GeneID:388228"
                     /db_xref="HGNC:HGNC:17699"
                     /db_xref="MIM:620212"
                     /translation="MSVGCPEPEPPRSLTCCGPGTAPGPGAGVPLLTEDMQALTLRTLA
                     ASDVTKHYELVRELGKGTYGKVDLVVYKGTGTKMALKFVNKSKTKLKNFLREVSITNSL
                     SSSPFIIKVFDVVFETEDCYVFAQEYAPAGDLFDIIPPQVGLPEDTVKRCVQQLGLALD
                     FMHGRQLVHRDIKPENVLLFDRECRRVKLADFGMTRRVGCRVKRVSGTIPYTAPEVCQA
                     GRADGLAVDTGVDVWAFGVLIFCVLTGNFPWEAASGADAFFEEFVRWQRGRLPGLPSQW
                     RRFTEPALRMFQRLLALEPERRGPAKEVFRFLKHELTSELRRRPSHRARKPPGDRPPAA
                     GPLRLEAPGPLKRTVLTESGSGSRPAPPAVGSVPLPVPVPVPVPVPVPVPEPGLAPQGP
                     PGRTDGRADKSKGQVVLATAIEICV"
     misc_feature    1744..1902
                     /gene="SBK1"
                     /gene_synonym="SBK"
                     /note="propagated from UniProtKB/Swiss-Prot (Q52WX2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1951..2019
                     /gene="SBK1"
                     /gene_synonym="SBK"
                     /note="propagated from UniProtKB/Swiss-Prot (Q52WX2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4966..4971
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SBK1"
                     /gene_synonym="SBK"
                     /note="hexamer: AACAAA"
     polyA_site      4986
                     /gene="SBK1"
                     /gene_synonym="SBK"
                     /note="major polyA site"
ORIGIN
        1 gatgccgcga tggagcgcag cccgggcggg cgccggggcc ggggcccgag cgccaggcgg
       61 agcgcgagct ggagccgcag ccggagcccg ggccaggccg ggggccggga gcgcagggcc
      121 gggctgctcg tagcggcggc gaccgagccc cccagcggct gaggggcttc cagcgcccgc
      181 cggtggccgg gacccactaa agcccccgca gccgaggagt gcggggagcc cccttccaca
      241 tccaggatcc ggcgagcctc ggggaagagg gggggccctc ccggatccga caccgagcga
      301 ctcccctgcg gggaaagcgg agacttcctc ggtatttaga agacagcaag ccccctacgg
      361 caccgcaagg actccccctc ctcagtctgg gcccccgccc caagacctag aacgcagtgc
      421 ccccaggccg ggattgcgag aaccccctcc caagatccgg tcattacaac tccacacctc
      481 aagacaagaa gacccagctc agaacgcccc tagatcaggg gatcccaatt ccccccaact
      541 ccggtacata gaaatcccaa atctaggcag ccggggacag caagagacac tctcaccagc
      601 aagaagcctc ggggatcccc cccctaaagc tccaggactt gggcgactga gcccctggcg
      661 gcaccgcttg caccccggtc catggtcgtg gcgccctgag cccccggggc cgggcagacg
      721 aagaccgcga cggcgcccag gccccctgcc gcggcgtccc cgcggcccca gcccagggag
      781 aagatgagcg tgggctgccc agagcctgag ccgccccgct ccctgacctg ctgtgggccg
      841 gggactgccc ctgggcctgg tgccggtgtg ccccttctca ctgaagacat gcaggccctg
      901 actctccgca cactggccgc cagcgacgtc accaagcact acgaactagt ccgggagctg
      961 ggcaaaggca cctatgggaa ggttgacctg gtggtctaca agggcacagg cacaaaaatg
     1021 gcactgaagt ttgtgaacaa gagcaaaacc aagctgaaga acttcctacg ggaggtgagc
     1081 atcaccaaca gcctctcctc cagccccttc atcatcaagg tctttgacgt ggtctttgag
     1141 acagaggact gctacgtctt tgcccaggag tacgcacctg ctggggacct gtttgacatc
     1201 atccctcccc aggtggggct ccctgaggac acggtgaagc gctgtgtgca gcagctgggc
     1261 ctggcgctgg acttcatgca cgggcggcag ctggtgcacc gcgacatcaa gcccgagaac
     1321 gtgctgctgt tcgaccgcga gtgccgccgc gtaaagctgg ccgacttcgg catgacgcgc
     1381 cgcgtgggct gccgcgtcaa gcgcgtgagc ggcaccatcc cttacacggc gcctgaggtg
     1441 tgccaggcgg gccgcgccga cgggctggcg gtggacacgg gcgtggacgt gtgggccttc
     1501 ggcgtgctca tcttctgcgt gctcaccggc aacttcccgt gggaggcggc gtcgggcgcc
     1561 gacgccttct tcgaggagtt cgtgcgctgg cagcggggcc gcctgccggg gctgccttcg
     1621 cagtggcgcc gcttcaccga gcccgcgctg cgcatgttcc agcgcttact ggccctggag
     1681 cccgagcgcc gcggcccagc caaggaggtg ttccgcttcc tcaagcacga gctcacgtcc
     1741 gagctgcgcc gccggccctc gcaccgcgcg cgcaagcccc ccggggaccg cccgcccgcc
     1801 gccgggccac tgcgcctcga ggcgcctggg ccgctcaagc ggacggtgct gaccgagagc
     1861 ggcagcggct cccggcccgc gccccccgcc gtcgggtcgg tgcccttgcc cgtgccggtg
     1921 ccggtgccag tgcccgtgcc ggtgcctgtg cccgagcccg gcctagctcc ccaggggccc
     1981 cccggccgga ccgacggccg cgcggacaag agcaaagggc aggtggtgct ggccacggcc
     2041 atcgagatct gcgtctgagt cgcctccgcc gccctcggac ccgggagcag cccgggcccg
     2101 ccccgagccg gtgcccggtg cggcggtagg gaatggagcc acctcgccgc ggggcagggg
     2161 gcgcagcggt agactaggca ggacgcggcc cggcacctgg tccgtccccg gcgggctggt
     2221 gagggggcca ccaaagaccc ctagcgcggc ctggtgagcg ggggcttggc ccagaggagc
     2281 caagccgcac agacccgaga attcggaggc caccacacaa cacacacaca cacacacaca
     2341 cacacacaca cacacacaca cacacacaca cacacgccag gagcaaggga gctttcgggc
     2401 cacactccca gacgcctccc tgagccctgg aacccggact cgttgctcct ggccttccat
     2461 accccctggc agatcatcct gcggtcccac cccagatccc ctcctcctcg ccatcccatt
     2521 ctgccccctc cccaccctgg gtacagaaag ggactgaagt gttgggcaga gagggggctt
     2581 aaggcccctg ggcacaggct gggatcaggg cagtgagcga agggcagctg tgtcctgccc
     2641 tcccttctgg aggctggagg ggagaggcca agcccttgga aaatgtagca aatgtctgga
     2701 tgtcgcataa gtgcgtgtat gtgcgggaca ggccccgaga agctagtgac tcctgcacac
     2761 ccccattgca caaatgaaat cacagcccag gagggagggt agcttggcac tggctgagaa
     2821 atagagctct ctccccgccc ctccccctaa ccacaaggga ttgtcctgac aacttgtggg
     2881 gatagaaggg ctcacagggc aggggtctca gctgccccca tccttagggc aggggagtta
     2941 gtgtggagcc gagagcaggt cccagctccc cctgccagcc gcactgtccc aggcccaggg
     3001 acctctgccg ggtcctccca gcccttgcca cacagcctag acgtagtagc ctgggcttcc
     3061 agcaggtggc gagctggttc gtgctggaaa tttctcctgg gtttcttggg gtcaaacatg
     3121 ccaacctcca agaccccatc ctcacgtctc ccacttttct ggcgctggag tgtgcagggc
     3181 gtaggacctg catgtgtggg tgtgagaatg ggggcggtgg acaccagggg gcgagtgtgt
     3241 gactaggtgt gtgtgcacat gtgtagggtg cagacgcatg ggtgccatcc tttgcgttca
     3301 gtgactgtgc gtccagaccc ctcaccagcg gcccccccac cacaccctgg tcctcccagg
     3361 cagctgtccc agggcgccca ggcctgcctt gcaccacagc cctcaggaaa tccggcaagg
     3421 aggcccctgc aggttggttc aggcccccag gtagcaaaac agagacaaca gcagccccgc
     3481 ctgaccccct gcccctctct gtggaggccc gggacccccg caataagcac cacatgggtg
     3541 aggctgtccc tgtcagggtc ccctgccagg gtccctcctg gggttctggg ccatttgagg
     3601 ggctctttga tgggccaggc cggccagagt gaactccgag cactttctgg ctggtgcccc
     3661 aacctctcca ctccccactc attcccacct tgaaaaaggg ctataggtcc cctgccctgc
     3721 ccgggtccag tttacaaaca gtgtggggtg gccccagggc ctggccccac tctccctgct
     3781 gtgcccactc ctctccagac tccacctccc cagtgggtat gggccctcca catgccaggt
     3841 aagtagcaaa cccccactcc ctccaaggac caggtctcag agaaggccct ggtcactgcc
     3901 cccggcccac ctggagccca tcggggctgc ctctcccagc cgcgacttct ccttttgcct
     3961 taggcctcgc gacatcctga tctctcctgc aataactagg aatcgagatt ccacagtaga
     4021 cgtcccttgc cgtgctcgct ctctctctcg cgcgcgctct ctctctccct ctctctctct
     4081 ctctctctct ctctctctct ctctctctct ctctctcctc tctttctctc tctccctctc
     4141 tctgttaaga tcctgttcgg gagtttcccc agccgttgta gtatctagta tgttagagtt
     4201 gggaggggac catagttatg tagcccagcc ccctcattcc cagaggcacc cagagggcca
     4261 gcctccagcc tgaccccaga gcagaaccgg aacaccaggt tggggccctg gtgctgccac
     4321 ctcctctgct ggtcgggctg ggaccctttg ccccttagga gaggtgttgg tcacagatgt
     4381 ttacctcagt ttatgtcact gtcgaagaaa caaaaaataa tagcaaaaaa taacactgta
     4441 gacatgaaga cttagaagac aaaaaaaaaa aaatcacaca aaaaatctcc cttgttgcga
     4501 ttcttctgtg aaggtacagt gtgtatgtgt gtatgtgtgt atgtgtgtgc gtgtctctgt
     4561 cccagaccct gtgtccccca cactgccccc tgtccttcgg tgcttcccag agacccctct
     4621 gagctggcct gtggggcacg ggaagccccc tggatgggag gcggggccac aggtcggcta
     4681 gagggtctcc accaggccca ctgaacagaa ccccacggct gccagaatgt tccctgagcc
     4741 cacactgtgg ccagtgggac agtcctggtg gctgacatca gcgtccatgc ttggctcagg
     4801 gcctggggcg gggtcctggg tagagtccta gccccagagc cccagcccct catgtcttgc
     4861 cgcccttcct ccatgtgttt gtaaatactc tggcatcctt tggccctgag aaggttttta
     4921 aatgtgttat ttacttctct aaacatgacg attgctataa aaataaacaa aagtttagaa
     4981 aaatga
//
LOCUS       NM_001024593            2423 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens MSS51 mitochondrial translational activator (MSS51),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001024593
VERSION     NM_001024593.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2423)
  AUTHORS   Baleva MV, Piunova UE, Chicherin IV, Krasavina DG, Levitskii SA and
            Kamenski PA.
  TITLE     Yeast Translational Activator Mss51p and Human ZMYND17 - Two
            Proteins with a Common Origin, but Different Functions
  JOURNAL   Biochemistry (Mosc) 86 (9), 1151-1161 (2021)
   PUBMED   34565318
  REMARK    GeneRIF: Yeast Translational Activator Mss51p and Human ZMYND17 -
            Two Proteins with a Common Origin, but Different Functions.
REFERENCE   2  (bases 1 to 2423)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2423)
  AUTHORS   Liu CM, Fann CS, Chen CY, Liu YL, Oyang YJ, Yang WC, Chang CC, Wen
            CC, Chen WJ, Hwang TJ, Hsieh MH, Liu CC, Faraone SV, Tsuang MT and
            Hwu HG.
  TITLE     ANXA7, PPP3CB, DNAJC9, and ZMYND17 genes at chromosome 10q22
            associated with the subgroup of schizophrenia with deficits in
            attention and executive function
  JOURNAL   Biol Psychiatry 70 (1), 51-58 (2011)
   PUBMED   21531385
  REMARK    GeneRIF: ANXA7, PPP3CB, DNAJC9, and ZMYND17 genes are potential
            candidate genes for schizophrenia, especially in patients with
            deficits in sustained attention and executive function.
REFERENCE   4  (bases 1 to 2423)
  AUTHORS   Perez-Martinez X, Butler CA, Shingu-Vazquez M and Fox TD.
  TITLE     Dual functions of Mss51 couple synthesis of Cox1 to assembly of
            cytochrome c oxidase in Saccharomyces cerevisiae mitochondria
  JOURNAL   Mol Biol Cell 20 (20), 4371-4380 (2009)
   PUBMED   19710419
REFERENCE   5  (bases 1 to 2423)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS,
            Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer
            N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White
            TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC,
            Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC094693.1, SRR1803615.197425.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000299432.7/ ENSP00000299432.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX500736.1, BC094693.1 and CN395159.1.
            On Nov 22, 2018 this sequence version replaced NM_001024593.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2423
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.2"
     gene            1..2423
                     /gene="MSS51"
                     /gene_synonym="ZMYND17"
                     /note="MSS51 mitochondrial translational activator"
                     /db_xref="GeneID:118490"
                     /db_xref="HGNC:HGNC:21000"
                     /db_xref="MIM:614773"
     misc_feature    43..45
                     /gene="MSS51"
                     /gene_synonym="ZMYND17"
                     /note="upstream in-frame stop codon"
     CDS             67..1449
                     /gene="MSS51"
                     /gene_synonym="ZMYND17"
                     /note="zinc finger, MYND domain containing 17; zinc finger
                     MYND domain-containing protein 17; zinc finger, MYND-type
                     containing 17; MSS51 mitochondrial translational activator
                     homolog"
                     /codon_start=1
                     /product="putative protein MSS51 homolog, mitochondrial"
                     /protein_id="NP_001019764.1"
                     /db_xref="CCDS:CCDS31221.1"
                     /db_xref="GeneID:118490"
                     /db_xref="HGNC:HGNC:21000"
                     /db_xref="MIM:614773"
                     /translation="MAPRSRRRRHKKPPSSVAPIIMAPTTIVTPVPLTPSKPGPSIDTL
                     GFFSLDDNVPGLSQLILQKLNMKSYEEYKLVVDGGTPVSGFGFRCPQEMFQRMEDTFRF
                     CAHCRALPSGLSDSKVLRHCKRCRNVYYCGPECQKSDWPAHRRVCQELRLVAVDRLMEW
                     LLVTGDFVLPSGPWPWPPEAVQDWDSWFSMKGLHLDATLDAVLVSHAVTTLWASVGRPR
                     PDPDVLQGSLKRLLTDVLSRPLTLGLGLRALGIDVRRTGGSTVHVVGASHVETFLTRPG
                     DYDELGYMFPGHLGLRVVMVGVDVATGFSQSTSTSPLEPGTIQLSAHRGLYHDFWEEQV
                     ETGQTHHPDLVAAFHPGFHSSPDLMEAWLPTLLLLRDYKIPTLITVYSHQELVSSLQIL
                     VELDTHITAFGSNPFMSLKPEQVYSSPNKQPVYCSAYYIMFLGSSCQLDNRQLEEKVDG
                     GI"
     regulatory      2398..2403
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSS51"
                     /gene_synonym="ZMYND17"
                     /note="hexamer: AATAAA"
     polyA_site      2423
                     /gene="MSS51"
                     /gene_synonym="ZMYND17"
                     /note="major polyA site"
ORIGIN
        1 atttcacttg gaggaaagag agaaggaagg aagctgagga cttagcaggg tatcactgga
       61 caggccatgg ctccacggtc ccggcgacga aggcacaaga aacctccctc atcagtggct
      121 cccatcatca tggccccaac cacaattgtg acccctgtgc ctctgacccc ctcaaaacct
      181 ggccctagca ttgacacact tggcttcttc tccttggatg ataatgttcc tggcctatcg
      241 cagctgatcc ttcaaaagct gaacatgaaa agctatgaag aatataagtt ggtggtagat
      301 gggggtaccc ccgtatcagg ctttggattt cgatgtcctc aagaaatgtt ccagaggatg
      361 gaagacacat ttcgattctg tgctcactgt agagcactcc ctagtgggct ttcagactcc
      421 aaggttctcc ggcactgtaa gaggtgcaga aatgtctatt actgtggtcc agagtgccag
      481 aagtcagact ggcccgcaca caggagggtt tgtcaagagc ttcgtcttgt ggctgtggac
      541 cgtctcatgg aatggcttct ggtcacaggt gattttgttc taccctcagg accttggcca
      601 tggccacctg aagctgtaca ggactgggac tcctggtttt ctatgaaggg gttacaccta
      661 gatgctacat tggatgctgt gctagttagt catgctgtga ccaccttatg ggccagtgta
      721 ggacggccaa ggccagaccc ggatgtcctg cagggatctt tgaagcggct gctgacagat
      781 gtcctgtcac ggcccttgac tctaggccta ggacttaggg ccttggggat agatgttagg
      841 aggactgggg gaagcacagt gcatgtggtt ggtgcttccc atgtggagac atttcttact
      901 cgcccagggg actatgatga gcttggttac atgtttcctg ggcaccttgg actccgtgtg
      961 gtcatggtgg gtgtagatgt agctactggc ttttcacaga gcacctcaac ttcacccctg
     1021 gaacctggca caattcagct tagtgcccac aggggcctct accatgactt ctgggaggag
     1081 caagtagaga ccgggcagac acaccatcca gatttggtgg cggcattcca tccaggtttt
     1141 cattcctccc cagacttgat ggaggcttgg ctgcccaccc tgctgctact tcgtgactat
     1201 aagattccta cattgattac tgtttacagc catcaggagt tggtatcctc tttgcagatt
     1261 ctggtggaac tggatacaca catcactgcc tttgggtcta atcctttcat gtccctcaaa
     1321 cctgaacagg tctattccag tcccaacaag cagccagtat actgcagtgc atactatatc
     1381 atgtttcttg gaagctcctg tcagctggat aataggcaat tagaagagaa agtggacggc
     1441 gggatttaaa tagatcataa ctggacatct ggaaaacggg gagtttgtga tgaaattacc
     1501 ctgctaatgc caggttcttg caaactttga aaaacattat attctaaacc tcatttactg
     1561 tttgggtaaa aattctaagc tgaatgagag tttctgtata acataactgg tttctttctt
     1621 tttttgagat ggagtcttgc tctgttgccc aggctggagt gcagcggcat gatctcgact
     1681 cactgcagcc tccgcctcct gggttcaagt ggttctcctg cctcagcctc cctagtagct
     1741 gggattacag gtgcacacca ccacacctgg ctaatttttg tatttttagc agacagggtt
     1801 tcaccatgtt ggccaggctc gtatcaaacc cttgacccca ggtgatctgc ctgcctcagc
     1861 ctcccaaagt tctgggatta caggcatgag ccaccatgcc cagccaatgt aactggtttc
     1921 taagagttta gccacagtag cttctagaga taggaaatta gatttagtgg gtgggaagag
     1981 gccctgatgc tggtctttcc agagcttata gttgctaaca cttttctttg taaagaagtt
     2041 taccttttga ctggaaccag atggcactga gaaaaagaat gagaaccacc ttattcttct
     2101 gaaaaagact ttcttctcat ccagtaattt gggctaaaaa atggaaagat gttgatgact
     2161 tgaagtgatg caagaatgga caagtcaggg aagtcattgg gaacatggat gaggttgtaa
     2221 gcattggtac agtgtcctgt ttcctgactt ttttgagaga aatgtctact tttcctgttt
     2281 tctcttgggg acttttgacc ctagagtagc cctggtgtta tattttagat atcccaagct
     2341 atatcagact ttacctgaat atactggagt tacttattat cccccattct ataccccaat
     2401 aaactcagtt tggggcttct taa
//
LOCUS       NM_001024594             600 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens chromosome 1 open reading frame 53 (C1orf53), mRNA.
ACCESSION   NM_001024594
VERSION     NM_001024594.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 600)
  AUTHORS   Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee
            JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K,
            Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z,
            Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN,
            Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A,
            Boucher G, Brand S, Buning C, Cohain A, Cichon S, D'Amato M, De Jong
            D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR,
            Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J,
            Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH,
            Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees
            CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W,
            Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter
            JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms
            LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget
            HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ,
            Zeissig S, Zhang B, Zhang CK, Zhao H, Silverberg MS, Annese V,
            Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt
            EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC and Cho JH.
  CONSRTM   International IBD Genetics Consortium (IIBDGC)
  TITLE     Host-microbe interactions have shaped the genetic architecture of
            inflammatory bowel disease
  JOURNAL   Nature 491 (7422), 119-124 (2012)
   PUBMED   23128233
REFERENCE   2  (bases 1 to 600)
  AUTHORS   Corson TW, Huang A, Tsao MS and Gallie BL.
  TITLE     KIF14 is a candidate oncogene in the 1q minimal region of genomic
            gain in multiple cancers
  JOURNAL   Oncogene 24 (30), 4741-4753 (2005)
   PUBMED   15897902
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.138974.1,
            SRR1163657.9682.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367393.8/ ENSP00000356363.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC130634.1 and BC038214.1.
            On Nov 22, 2018 this sequence version replaced NM_001024594.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..600
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.3"
     gene            1..600
                     /gene="C1orf53"
                     /note="chromosome 1 open reading frame 53"
                     /db_xref="GeneID:388722"
                     /db_xref="HGNC:HGNC:30003"
     CDS             21..458
                     /gene="C1orf53"
                     /codon_start=1
                     /product="uncharacterized protein C1orf53"
                     /protein_id="NP_001019765.1"
                     /db_xref="CCDS:CCDS44290.1"
                     /db_xref="GeneID:388722"
                     /db_xref="HGNC:HGNC:30003"
                     /translation="MAARQIWARTGAALCRQPSAAPPPAPLWVRAGFRQQLSLTLCPAN
                     EGNCGGSAPSTPGRPERAARPSVSEELTAAERQIAELHAAACAAGQLNYVDPATGYVVL
                     TQIAHLQRGECCGSACRHCPYGQVNVKDPSKKKQFNSYFYV"
     misc_feature    219..221
                     /gene="C1orf53"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5VUE5.1); phosphorylation site"
     regulatory      573..578
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1orf53"
                     /note="hexamer: ATTAAA"
     polyA_site      600
                     /gene="C1orf53"
                     /note="major polyA site"
ORIGIN
        1 ctcccaaggc cggcggcggc atggcggcca ggcagatctg ggcacggacg ggtgccgcgc
       61 tctgcaggca accttccgcc gccccgccgc cagcacctct ctgggtaaga gctgggttcc
      121 gacagcagct cagcttaacc ctctgccctg ctaacgaggg aaactgcggc ggctccgcgc
      181 ccagcacgcc cggtaggccg gagagagcgg cgaggccttc ggtgagcgaa gagttaaccg
      241 cggcggagcg acagatcgcg gagctgcacg ctgccgcctg cgcggctggc cagctaaact
      301 atgtggatcc agctactggc tatgtggtgc tcacacagat tgcccacttg caaagaggtg
      361 aatgttgtgg ctctgcgtgc agacattgtc catatggtca agtcaatgtt aaagatccat
      421 ctaaaaagaa gcaattcaat tcatattttt atgtttgaca agaatttcat ctctgttccc
      481 taactgtgct tgtatttttt aaaaaataaa gccccaattc agaattgctg gattattagt
      541 acttgaacac tagtttaatc ctaaatacat atattaaaag aacatcaata aaatgaaaaa
//
LOCUS       NM_001024598             710 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens hes family bHLH transcription factor 3 (HES3), mRNA.
ACCESSION   NM_001024598
VERSION     NM_001024598.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 710)
  AUTHORS   Fang C, Jiang B, Shi X and Fan C.
  TITLE     Hes3 Enhances the Malignant Phenotype of Lung Cancer through
            Upregulating Cyclin D1, Cyclin D3 and MMP7 Expression
  JOURNAL   Int J Med Sci 16 (3), 470-476 (2019)
   PUBMED   30911281
  REMARK    GeneRIF: Hes3 regulated cell proliferation and lung cancer
            invasion.Hes3 regulated Cyclin D1, Cyclin D3 and MMP7 expression in
            lung cancer cells. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 710)
  AUTHORS   Kendall GC, Watson S, Xu L, LaVigne CA, Murchison W, Rakheja D,
            Skapek SX, Tirode F, Delattre O and Amatruda JF.
  TITLE     PAX3-FOXO1 transgenic zebrafish models identify HES3 as a mediator
            of rhabdomyosarcoma tumorigenesis
  JOURNAL   Elife 7, e33800 (2018)
   PUBMED   29869612
  REMARK    GeneRIF: HES3 overexpression is associated with impaired myogenic
            differentiation and rhabdomyosarcoma tumorigenesis. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 710)
  AUTHORS   Nikolakopoulou P, Poser SW, Masjkur J, Fernandez Rubin de Celis M,
            Toutouna L, Andoniadou CL, McKay RD, Chrousos G, Ehrhart-Bornstein
            M, Bornstein SR and Androutsellis-Theotokis A.
  TITLE     STAT3-Ser/Hes3 Signaling: A New Molecular Component of the
            Neuroendocrine System?
  JOURNAL   Horm Metab Res 48 (2), 77-82 (2016)
   PUBMED   26783739
  REMARK    GeneRIF: The STAT3-Ser/Hes3 Signaling Axis was first identified as a
            major regulator of neural stem cells and, subsequently, cancer stem
            cells Review article
REFERENCE   4  (bases 1 to 710)
  AUTHORS   Masjkur J, Arps-Forker C, Poser SW, Nikolakopoulou P, Toutouna L,
            Chenna R, Chavakis T, Chatzigeorgiou A, Chen LS, Dubrovska A,
            Choudhary P, Uphues I, Mark M, Bornstein SR and
            Androutsellis-Theotokis A.
  TITLE     Hes3 is expressed in the adult pancreatic islet and regulates gene
            expression, cell growth, and insulin release
  JOURNAL   J Biol Chem 289 (51), 35503-35516 (2014)
   PUBMED   25371201
  REMARK    GeneRIF: Data show that transcription factor Hes3 is expressed in
            adult pancreatic islets and dissociated cultures of pancreatic islet
            cells.
REFERENCE   5  (bases 1 to 710)
  AUTHORS   Economopoulou M, Masjkur J, Raiskup F, Ebermann D, Saha S, Karl MO,
            Funk R, Jaszai J, Chavakis T, Ehrhart-Bornstein M, Pillunat LE,
            Kunz-Schughart L, Kurth I, Dubrovska A and Androutsellis-Theotokis
            A.
  TITLE     Expression of the transcription factor Hes3 in the mouse and human
            ocular surface, and in pterygium
  JOURNAL   Int J Radiat Biol 90 (8), 700-709 (2014)
   PUBMED   24512568
  REMARK    GeneRIF: expression of the transcription factor Hes3 in the mouse
            and human ocular surface, and in pterygium
REFERENCE   6  (bases 1 to 710)
  AUTHORS   Park DM, Jung J, Masjkur J, Makrogkikas S, Ebermann D, Saha S,
            Rogliano R, Paolillo N, Pacioni S, McKay RD, Poser S and
            Androutsellis-Theotokis A.
  TITLE     Hes3 regulates cell number in cultures from glioblastoma multiforme
            with stem cell characteristics
  JOURNAL   Sci Rep 3, 1095 (2013)
   PUBMED   23393614
  REMARK    GeneRIF: Hes3 is expressed in cultures from glioblastoma multiforme
            which express neural stem cell markers
REFERENCE   7  (bases 1 to 710)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   8  (bases 1 to 710)
  AUTHORS   Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K,
            Laporte J, Kitagawa M and Ogata T.
  TITLE     Mastermind-like domain-containing 1 (MAMLD1 or CXorf6)
            transactivates the Hes3 promoter, augments testosterone production,
            and contains the SF1 target sequence
  JOURNAL   J Biol Chem 283 (9), 5525-5532 (2008)
   PUBMED   18162467
  REMARK    GeneRIF: CXorf6 transactivates the Hes3 promoter, augments
            testosterone production
REFERENCE   9  (bases 1 to 710)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Integrative genomic analyses on HES/HEY family: Notch-independent
            HES1, HES3 transcription in undifferentiated ES cells, and
            Notch-dependent HES1, HES5, HEY1, HEY2, HEYL transcription in fetal
            tissues, adult tissues, or cancer
  JOURNAL   Int J Oncol 31 (2), 461-466 (2007)
   PUBMED   17611704
REFERENCE   10  (bases 1 to 710)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of human HES2, HES3, and HES5
            genes in silico
  JOURNAL   Int J Oncol 25 (2), 529-534 (2004)
   PUBMED   15254753
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CX755241.1, CN370501.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968968, SAMEA2149178
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000377898.4/ ENSP00000367130.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL031847.17 and CN370501.1.
            On May 23, 2019 this sequence version replaced NM_001024598.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
FEATURES             Location/Qualifiers
     source          1..710
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.31"
     gene            1..710
                     /gene="HES3"
                     /gene_synonym="bHLHb43"
                     /note="hes family bHLH transcription factor 3"
                     /db_xref="GeneID:390992"
                     /db_xref="HGNC:HGNC:26226"
                     /db_xref="MIM:609971"
     misc_feature    1..3
                     /gene="HES3"
                     /gene_synonym="bHLHb43"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MDCNMGTEPAARGSLPGNFRKISKPL"
     misc_feature    13..15
                     /gene="HES3"
                     /gene_synonym="bHLHb43"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MGTEPAARGSLPGNFRKISKPL"
     CDS             79..639
                     /gene="HES3"
                     /gene_synonym="bHLHb43"
                     /note="class B basic helix-loop-helix protein 43; hairy and
                     enhancer of split 3"
                     /codon_start=1
                     /product="transcription factor HES-3"
                     /protein_id="NP_001019769.1"
                     /db_xref="CCDS:CCDS41238.1"
                     /db_xref="GeneID:390992"
                     /db_xref="HGNC:HGNC:26226"
                     /db_xref="MIM:609971"
                     /translation="MEKKRRARINVSLEQLKSLLEKHYSHQIRKRKLEKADILELSVKY
                     MRSLQNSLQGLWPVPRGAEQPSGFRSCLPGVSQLLRRGDEVGSGLRCPLVPESAAGSTM
                     DSAGLGQEAPALFRPCTPAVWAPAPAAGGPRSPPPLLLLPESLPGSSASVPPPQPASSR
                     CAESPGLGLRVWRPWGSPGDDLN"
     misc_feature    460..636
                     /gene="HES3"
                     /gene_synonym="bHLHb43"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TGS1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    601..612
                     /gene="HES3"
                     /gene_synonym="bHLHb43"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TGS1.1);
                     Region: WRPW motif"
ORIGIN
        1 atggactgca acatgggcac ggagcctgct gcccggggca gcctccccgg caacttccga
       61 aagatttcca agccgctgat ggagaaaaag cgccgggcac gcatcaatgt gtcactggag
      121 cagctcaagt cgctgctgga gaaacactac tcgcaccaga tccggaagcg caaattggag
      181 aaggccgaca tcctggagtt gagcgtgaag tacatgagaa gccttcagaa ctccttgcaa
      241 gggctctggc ctgtgcccag gggagccgag caaccgtcgg gcttccgcag ctgcctgccc
      301 ggcgtgagcc agctccttcg gcgcggagat gaggtcggca gcggcctgcg ctgccccctg
      361 gtgcccgaga gcgccgccgg cagcaccatg gacagcgccg ggttgggcca ggaggcgccc
      421 gcgctgttcc gcccttgcac ccctgccgtc tgggctcctg ctccggccgc cggcggcccg
      481 cggtccccac cacccctgct cctcctcccc gaaagtctcc ctggctcgtc cgccagcgtc
      541 cccccgccgc agccagcgtc gagtcgctgc gccgagagtc ccgggctggg cctgcgcgtg
      601 tggcggccct ggggaagccc cggggatgac ctgaactgaa ggcgctccct atttggtctc
      661 gcgacacagg gactattttc agcacgccca cagtgactgc caggaccccc
//
LOCUS       NM_001024599             492 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens H2B clustered histone 18 (H2BC18), transcript variant
            1, mRNA.
ACCESSION   NM_001024599
VERSION     NM_001024599.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 492)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   2  (bases 1 to 492)
  AUTHORS   Buschow SI, van Balkom BW, Aalberts M, Heck AJ, Wauben M and
            Stoorvogel W.
  TITLE     MHC class II-associated proteins in B-cell exosomes and potential
            functional implications for exosome biogenesis
  JOURNAL   Immunol Cell Biol 88 (8), 851-856 (2010)
   PUBMED   20458337
REFERENCE   3  (bases 1 to 492)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   4  (bases 1 to 492)
  AUTHORS   Kim SC, Sprung R, Chen Y, Xu Y, Ball H, Pei J, Cheng T, Kho Y, Xiao
            H, Xiao L, Grishin NV, White M, Yang XJ and Zhao Y.
  TITLE     Substrate and functional diversity of lysine acetylation revealed by
            a proteomics survey
  JOURNAL   Mol Cell 23 (4), 607-618 (2006)
   PUBMED   16916647
REFERENCE   5  (bases 1 to 492)
  AUTHORS   Pavri R, Zhu B, Li G, Trojer P, Mandal S, Shilatifard A and Reinberg
            D.
  TITLE     Histone H2B monoubiquitination functions cooperatively with FACT to
            regulate elongation by RNA polymerase II
  JOURNAL   Cell 125 (4), 703-717 (2006)
   PUBMED   16713563
REFERENCE   6  (bases 1 to 492)
  AUTHORS   Bonenfant D, Coulot M, Towbin H, Schindler P and van Oostrum J.
  TITLE     Characterization of histone H2A and H2B variants and their
            post-translational modifications by mass spectrometry
  JOURNAL   Mol Cell Proteomics 5 (3), 541-552 (2006)
   PUBMED   16319397
REFERENCE   7  (bases 1 to 492)
  AUTHORS   Zhu B, Zheng Y, Pham AD, Mandal SS, Erdjument-Bromage H, Tempst P
            and Reinberg D.
  TITLE     Monoubiquitination of human histone H2B: the factors involved and
            their roles in HOX gene regulation
  JOURNAL   Mol Cell 20 (4), 601-611 (2005)
   PUBMED   16307923
REFERENCE   8  (bases 1 to 492)
  AUTHORS   Golebiowski F and Kasprzak KS.
  TITLE     Inhibition of core histones acetylation by carcinogenic nickel(II)
  JOURNAL   Mol Cell Biochem 279 (1-2), 133-139 (2005)
   PUBMED   16283522
REFERENCE   9  (bases 1 to 492)
  AUTHORS   Cheung WL, Ajiro K, Samejima K, Kloc M, Cheung P, Mizzen CA, Beeser
            A, Etkin LD, Chernoff J, Earnshaw WC and Allis CD.
  TITLE     Apoptotic phosphorylation of histone H2B is mediated by mammalian
            sterile twenty kinase
  JOURNAL   Cell 113 (4), 507-517 (2003)
   PUBMED   12757711
REFERENCE   10  (bases 1 to 492)
  AUTHORS   Marzluff WF, Gongidi P, Woods KR, Jin J and Maltais LJ.
  TITLE     The human and mouse replication-dependent histone genes
  JOURNAL   Genomics 80 (5), 487-498 (2002)
   PUBMED   12408966
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AK289664.1, DB229053.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000369167.3/ ENSP00000358164.1
            RefSeq Select criteria :: based on manual assertion, conservation
            replication-dependent histone :: PMID: 12408966
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC239868.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 3, 2019 this sequence version replaced NM_001024599.4.
            Summary: Histones are basic nuclear proteins that are responsible
            for the nucleosome structure of the chromosomal fiber in
            eukaryotes. This structure consists of approximately 146 bp of DNA
            wrapped around a nucleosome, an octamer composed of pairs of each
            of the four core histones (H2A, H2B, H3, and H4). The chromatin
            fiber is further compacted through the interaction of a linker
            histone, H1, with the DNA between the nucleosomes to form higher
            order chromatin structures. This gene encodes a
            replication-dependent histone that is a member of the histone H2B
            family and is found in a histone cluster on chromosome 1. [provided
            by RefSeq, Aug 2015].
            Transcript Variant: This variant (1) differs in the 3' coding
            region and 3' UTR, compared to variant 2. The encoded isoform (a)
            has a shorter C-terminus compared to isoform b.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..492
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     gene            1..492
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="H2B clustered histone 18"
                     /db_xref="GeneID:440689"
                     /db_xref="HGNC:HGNC:24700"
     misc_feature    18..20
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="upstream in-frame stop codon"
     CDS             48..428
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="isoform a is encoded by transcript variant 1;
                     histone H2B type 2-F; histone cluster 2, H2bf; histone
                     cluster 2 H2B family member f"
                     /codon_start=1
                     /product="histone H2B type 2-F isoform a"
                     /protein_id="NP_001019770.1"
                     /db_xref="CCDS:CCDS30846.1"
                     /db_xref="GeneID:440689"
                     /db_xref="HGNC:HGNC:24700"
                     /translation="MPDPAKSAPAPKKGSKKAVTKVQKKDGKKRKRSRKESYSVYVYKV
                     LKQVHPDTGISSKAMGIMNSFVNDIFERIAGEASRLAHYNKRSTITSREIQTAVRLLLP
                     GELAKHAVSEGTKAVTKYTSSK"
     misc_feature    48..155
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5QNW6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    51..53
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="N-acetylproline.
                     /evidence=ECO:0000250|UniProtKB:P23527; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); acetylation site"
     misc_feature    63..65
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16283522; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); acetylation site"
     misc_feature    81..83
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P62807; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); acetylation site"
     misc_feature    84..86
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16283522; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); acetylation site"
     misc_feature    90..92
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="Phosphoserine, by STK4/MST1.
                     /evidence=ECO:0000269|PubMed:12757711; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); phosphorylation site"
     misc_feature    93..95
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16283522,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); acetylation site"
     misc_feature    96..98
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); acetylation site"
     misc_feature    108..110
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16283522,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); acetylation site"
     misc_feature    117..119
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P33778; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); acetylation site"
     misc_feature    156..158
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="Phosphoserine, by AMPK.
                     /evidence=ECO:0000250|UniProtKB:Q64475; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); phosphorylation site"
     misc_feature    186..188
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P62807; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); methylation site"
     misc_feature    219..221
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P62807; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); methylation site"
     misc_feature    285..287
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="Dimethylated arginine.
                     /evidence=ECO:0000250|UniProtKB:Q96A08; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); methylation site"
     misc_feature    303..305
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q96A08; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); methylation site"
     misc_feature    303..305
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q96A08; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); acetylation site"
     misc_feature    306..308
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q96A08; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); methylation site"
     misc_feature    324..326
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q96A08; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); methylation site"
     misc_feature    372..374
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P62807; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); methylation site"
     misc_feature    384..386
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="O-linked (GlcNAc) serine.
                     /evidence=ECO:0000250|UniProtKB:P62807; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); glycosylation site"
     misc_feature    393..395
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q00729; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); phosphorylation site"
     misc_feature    396..398
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="N6-methylated lysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q00729; propagated from
                     UniProtKB/Swiss-Prot (Q5QNW6.3); methylation site"
     stem_loop       471..486
                     /gene="H2BC18"
                     /gene_synonym="HIST2H2BF"
                     /note="palindromic termination element"
                     /function="transcription termination"
ORIGIN
        1 agttcggatt acttctttaa gtctcttttc tcttttttcg cgcaaaaatg ccggatccag
       61 cgaaatccgc tcctgctccc aagaagggct ccaaaaaggc tgttacgaaa gtgcagaaga
      121 aggacggcaa gaagcgcaag cgcagccgca aggagagcta ctccgtttac gtgtacaagg
      181 tgctgaagca ggtccacccc gacaccggca tctcgtccaa ggccatgggc atcatgaact
      241 ccttcgtcaa cgacatcttc gagcgcatcg cgggagaggc gtcccgcctg gcgcactaca
      301 acaagcgctc caccatcaca tcccgcgaga tccagacggc cgtgcgcctg ctgctgcccg
      361 gcgagctggc caagcacgcc gtgtccgagg gcaccaaggc ggtcaccaag tacaccagct
      421 cgaagtaaga gtgtgcaagg gacgcaatag atcaaccacc taaccccaaa ggctcttttc
      481 agagccactt ca
//
LOCUS       NM_001024601             506 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens spermatogenesis associated 45 (SPATA45), mRNA.
ACCESSION   NM_001024601
VERSION     NM_001024601.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 506)
  AUTHORS   Rose JE, Behm FM, Drgon T, Johnson C and Uhl GR.
  TITLE     Personalized smoking cessation: interactions between nicotine dose,
            dependence and quit-success genotype score
  JOURNAL   Mol Med 16 (7-8), 247-253 (2010)
   PUBMED   20379614
  REMARK    GeneRIF: Clinical trial of gene-disease association and
            gene-environment interaction. (HuGE Navigator) Erratum:[Mol Med.
            2012;18(1):729]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC035742.1, BX115933.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000332912.3/ ENSP00000419160.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC035742.1.
            On May 17, 2019 this sequence version replaced NM_001024601.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..506
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.3"
     gene            1..506
                     /gene="SPATA45"
                     /gene_synonym="C1orf227"
                     /note="spermatogenesis associated 45"
                     /db_xref="GeneID:149643"
                     /db_xref="HGNC:HGNC:33709"
     misc_feature    58..60
                     /gene="SPATA45"
                     /gene_synonym="C1orf227"
                     /note="upstream in-frame stop codon"
     CDS             109..405
                     /gene="SPATA45"
                     /gene_synonym="C1orf227"
                     /note="UPF0732 protein C1orf227"
                     /codon_start=1
                     /product="spermatogenesis-associated protein 45"
                     /protein_id="NP_001019772.1"
                     /db_xref="CCDS:CCDS31020.1"
                     /db_xref="GeneID:149643"
                     /db_xref="HGNC:HGNC:33709"
                     /translation="MASINRTIEIMKKHGVSKQHLLEEINKKRESNCLVERSNQVSLLR
                     VQKRHFPDAYQSFTDTTTKEPVPNSGRSSWIKLSLLAHMERKHFPPKNNAIFG"
     regulatory      430..435
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPATA45"
                     /gene_synonym="C1orf227"
                     /note="hexamer: AATACA"
     polyA_site      455
                     /gene="SPATA45"
                     /gene_synonym="C1orf227"
                     /note="major polyA site"
ORIGIN
        1 tcccagtggg ctaatccaca ccagtggact tgaaacacgc tttgggttgc tgtatggtag
       61 tatgctaaag gacagcaaga atcacttgac aattggtttg tgaccataat ggcatctata
      121 aacagaacca ttgaaataat gaaaaaacat ggagtaagca aacaacatct cctggaggag
      181 ataaacaaaa agcgtgaatc caactgcttg gtggaacgaa gcaatcaagt cagcttactg
      241 agagttcaaa agaggcactt cccggatgcc tatcagtcct ttactgatac cacaaccaaa
      301 gagcctgttc ccaacagtgg caggagctcc tggatcaagc tgagtctcct tgctcacatg
      361 gagagaaagc actttccacc aaaaaataat gccatatttg gataaagtgc atctccagag
      421 acacacggaa atacattctc tttgattctt cttcagtgtg tctaaattat ttacaaatta
      481 ttaattataa acaaagctaa acaaaa
//
LOCUS       NM_001024611            3435 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.
ACCESSION   NM_001024611
VERSION     NM_001024611.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3435)
  AUTHORS   Gupta N, Sarkar S, Mehta P, Sankhwar SN and Rajender S.
  TITLE     Polymorphisms in the HSF2, LRRC6, MEIG1 and PTIP genes correlate
            with sperm motility in idiopathic infertility
  JOURNAL   Andrologia 54 (9), e14517 (2022)
   PUBMED   35768906
  REMARK    GeneRIF: Polymorphisms in the HSF2, LRRC6, MEIG1 and PTIP genes
            correlate with sperm motility in idiopathic infertility.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CR749811.1, SRR11853563.25223.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000682860.1/ ENSP00000508002.1
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093858.2, CR749811.1,
            BU620718.1 and CA436716.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001024611.2.
            Summary: This gene encodes a protein belonging to the leucine-rich
            repeat family of proteins, which are involved in diverse biological
            processes, including cell adhesion, cellular trafficking, and
            hormone-receptor interactions. [provided by RefSeq, Apr 2017].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3435
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     gene            1..3435
                     /gene="LRRC66"
                     /note="leucine rich repeat containing 66"
                     /db_xref="GeneID:339977"
                     /db_xref="HGNC:HGNC:34299"
     CDS             66..2708
                     /gene="LRRC66"
                     /codon_start=1
                     /product="leucine-rich repeat-containing protein 66"
                     /protein_id="NP_001019782.1"
                     /db_xref="CCDS:CCDS43229.1"
                     /db_xref="GeneID:339977"
                     /db_xref="HGNC:HGNC:34299"
                     /translation="MKNLYFRVITIVIGLYFTGIMTNASRKSNILFNSECQWNEYILTN
                     CSFTGKCDIPVDISQTAATVDVSFNFFRVLLQSHTKKEEWKIKHLDLSNNLISKITLSP
                     FAYLHALEVLNLSNNAIHSLSLDLLSPKSSWVKRHRSSFRNRFPLLKVLILQRNKLSDT
                     PKGLWKLKSLQSLDLSFNGILQIGWSDFHNCLQLENLCLKSNKIFKIPPQAFKDLKKLQ
                     VIDLSNNALITILPMMIIALEFPHLVVDLADNNWQCDDSVAVFQNFISESWRKKWNVIC
                     NRSIGSEEANGGTPQSRISRETRLPPIHLHRMKSLIRSKAERPQGGRHTGISTLGKKAK
                     AGSGLRKKQRRLPRSVRSTRDVQAAGKKEDAPQDLALAVCLSVFITFLVAFSLGAFTRP
                     YVDRLWQKKCQSKSPGLDNAYSNEGFYDDMEAAGHTPHPETHLRQVFPHLSLYENQTPF
                     WVTQPHPHATVIPDRTLGRSRKDPGSSQSPGQCGDNTGAGSGNDGAVYSILQRHPHAGN
                     RELMSAAQDHIHRNDILGEWTYETVAQEEPLSAHSVGVSSVAGTSHAVSGSSRYDSNEL
                     DPSLSGEITASLCKMLTHAEAQRTGDSKERGGTEQSLWDSQMEFSKERQVSSSIDLLSI
                     QQPRLSGARAEEALSAHYSEVPYGDPRDTGPSVFPPRWDSGLDVTPANKEPVQKSTPSD
                     TCCELESDCDSDEGSLFTLSSISSESARSKTEEAVPDEESLQDESSGASKDNVTAVDSL
                     EENVTFQTIPGKCKNQEDPFEKPLISAPDSGMYKTHLENASDTDRSEGLSPWPRSPGNS
                     PLGDEFPGMFTYDYDTALQSKAAEWHCSLRDLEFSNVDVLQQTPPCSAEVPSDPDKAAF
                     HERDSDILK"
     misc_feature    75..137
                     /gene="LRRC66"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CR7.1);
                     transmembrane region"
     misc_feature    198..200
                     /gene="LRRC66"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q68CR7.1); glycosylation site"
     misc_feature    321..386
                     /gene="LRRC66"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CR7.1);
                     Region: LRR 1"
     misc_feature    393..455
                     /gene="LRRC66"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CR7.1);
                     Region: LRR 2"
     misc_feature    408..410
                     /gene="LRRC66"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q68CR7.1); glycosylation site"
     misc_feature    510..578
                     /gene="LRRC66"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CR7.1);
                     Region: LRR 3"
     misc_feature    579..644
                     /gene="LRRC66"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CR7.1);
                     Region: LRR 4"
     misc_feature    651..716
                     /gene="LRRC66"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CR7.1);
                     Region: LRR 5"
     misc_feature    723..788
                     /gene="LRRC66"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CR7.1);
                     Region: LRR 6"
     misc_feature    1020..1169
                     /gene="LRRC66"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CR7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1191..1253
                     /gene="LRRC66"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CR7.1);
                     transmembrane region"
     misc_feature    1452..1577
                     /gene="LRRC66"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CR7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2100..2303
                     /gene="LRRC66"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CR7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2232..2234
                     /gene="LRRC66"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6TXF5; propagated from
                     UniProtKB/Swiss-Prot (Q68CR7.1); phosphorylation site"
     misc_feature    2301..2303
                     /gene="LRRC66"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q68CR7.1); glycosylation site"
     misc_feature    2319..2321
                     /gene="LRRC66"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K0B3; propagated from
                     UniProtKB/Swiss-Prot (Q68CR7.1); phosphorylation site"
     misc_feature    2331..2333
                     /gene="LRRC66"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q68CR7.1); glycosylation site"
     misc_feature    2355..2513
                     /gene="LRRC66"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CR7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2628..2705
                     /gene="LRRC66"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CR7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3412..3417
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC66"
                     /note="hexamer: AATAAA"
     polyA_site      3435
                     /gene="LRRC66"
                     /note="major polyA site"
ORIGIN
        1 aaatccctac ctggcttgat ccagatatcc acccatttga taaccactta ggatacgaag
       61 gcattatgaa aaacctctat ttcagagtca ttaccatagt tataggtctt tattttactg
      121 gaataatgac aaatgcatca agaaaaagca atattttatt caattctgaa tgccaatgga
      181 atgaatatat tctgacaaat tgttctttta ccggaaagtg tgatatacct gtggacatat
      241 cacagacagc agccactgtg gatgtaagtt tcaatttctt tagagttctc ttacagtctc
      301 acacgaaaaa agaagagtgg aaaataaaac atctggacct cagtaacaat ctcatatcaa
      361 aaataacctt aagccctttt gcatatttac atgctttgga agtgttaaac ctcagcaaca
      421 atgccatcca ctccctctca ttggatctac tcagtcctaa gtcctcatgg gtgaaacgcc
      481 acagaagcag cttcagaaac aggtttccat tgctgaaggt gctcattctt caaagaaata
      541 aactcagtga cactcccaag ggactgtgga aactgaagtc attgcagagt ttggatctgt
      601 cattcaatgg gatattgcaa atagggtggt ctgattttca caactgcctg caactggaga
      661 atctctgttt aaagagcaac aagatattca aaattccccc acaagccttc aaggacctca
      721 aaaaattaca ggtcatagac cttagcaaca atgctctgat taccatccta ccaatgatga
      781 tcatagctct agaatttccc catctagtgg ttgacttggc tgataataac tggcagtgtg
      841 atgatagtgt ggcagtcttt caaaatttta tttctgaatc ctggaggaaa aagtggaatg
      901 tcatttgcaa caggtctata gggagtgagg aggccaacgg gggcactccc cagagcagga
      961 tttccaggga aacccgcctt cctcccattc atctgcatcg catgaaaagc ctcataagga
     1021 gcaaagcaga gaggccccag ggaggaaggc acacgggcat ttctactctg gggaagaagg
     1081 caaaggccgg ctctggtctc aggaagaagc agagacggct gccaaggagt gttagaagca
     1141 cccgcgatgt gcaggctgcc ggcaaaaaag aggacgctcc ccaggacctg gctctggcgg
     1201 tgtgcctgtc agtgttcatc acattccttg tcgccttcag cctgggggct ttcacaaggc
     1261 cttatgttga cagactgtgg caaaaaaagt gccagagcaa aagccctggc ctggacaacg
     1321 cgtattcaaa cgagggcttc tacgatgaca tggaagctgc ggggcacaca ccacacccag
     1381 agacccatct gcgccaagta tttcctcatc taagcctcta cgagaaccag acccctttct
     1441 gggtgacaca gccacaccca cacgccaccg taattcctga tagaactctg ggaaggagca
     1501 gaaaggatcc tggcagttcg cagagcccag gacagtgcgg ggacaacacc ggggcaggaa
     1561 gtggaaatga tggtgcagtc tattccattc tccagagaca tccacatgcc ggtaaccgtg
     1621 aactaatgtc agcagcgcag gaccacatcc ataggaatga tattctcgga gaatggactt
     1681 atgaaactgt ggcccaggaa gagcctctca gtgcacattc agtgggcgtc tcttctgtag
     1741 ctggcacgtc tcacgctgtc tctggctcaa gccgttatga ttccaatgaa ttagaccctt
     1801 ccctctccgg agaaataaca gcttccctct gtaaaatgct aacacatgca gaagcacaga
     1861 ggactggaga tagtaaggaa agagggggca ctgaacagtc actttgggac tcgcagatgg
     1921 aattttctaa ggaaaggcaa gtgagttcat ccattgattt gctgagcata cagcagccaa
     1981 ggctgtccgg ggcaagggct gaggaagcgc tttcagccca ctacagcgag gttccatacg
     2041 gtgacccaag agacacaggc ccatcagtct ttcctccaag atgggacagt ggcctggatg
     2101 tcactcctgc taacaaggaa ccagtgcaga aatccactcc ttctgacact tgctgtgagt
     2161 tggagagtga ctgtgactct gatgaggggt ctctgttcac tctgagctcc ataagttcag
     2221 agagtgcaag gagcaagact gaagaggcag tgcctgatga ggagtccctg caggacgaga
     2281 gctcaggggc aagcaaggac aatgtgacgg ctgtagacag tcttgaggaa aatgttacct
     2341 tccaaacaat tccagggaaa tgcaagaatc aagaagatcc ctttgaaaaa cctctcattt
     2401 ctgctccaga ctctggcatg tacaagactc atctggaaaa tgcctctgac actgatagat
     2461 ctgagggcct gtcaccctgg cccaggtcac cagggaatag tcccttaggg gatgagtttc
     2521 cgggcatgtt cacttatgat tatgacacag ctcttcaatc caaggcagca gaatggcatt
     2581 gctcacttag agacttagaa ttttcaaatg tggacgtttt acagcaaaca ccaccatgtt
     2641 ctgctgaagt tccctcagat cctgataagg ctgccttcca tgaaagagac tcagacattt
     2701 taaaataaga atctttcatt aaggaaatat tcacagctct aaacaatatt cttttaaaga
     2761 tcatggcagg ggaaaactaa agccttcaca acaagatcct gaaggagaca acatgaattc
     2821 caaccaagtg gacactgatg caaatgaggg ttttgtgggc ccacttgagg gcgatgattc
     2881 tagaagggtt ataagctaaa cacacttgtt aacatcctat ggggatgaac ctgctcttca
     2941 gtgtgaaaga gaaagagggg aatattttga gatcattcca agaaccatgc accattatta
     3001 caagagctcc aaacaaaacc agttcactga gaacacagga gcacttcatc aataggttgg
     3061 ggtaaatatt cagaagagaa tctgttgcag ttagacgaag tggttctaac tttccttctc
     3121 aaatacagac ctggagcaat ctgatgggat ttggctctct gaaaagaaca gctttaggat
     3181 gacaaagaca aggatgttca acttgatcat caaagagaat tcaaatgaca ttttttcata
     3241 catattgaag cacttaagtg gaaatgctgg atagatttta atgaattctg aacacacact
     3301 agcacaactt tttggaggct gatcgtgaaa ctgcaaaatt ggaaaagttc tgagtaaata
     3361 taaatgtttt taaataagtt atgttaaaag agaagagggg ccacttttta gaataaagtg
     3421 taaattaaaa atcaa
//
LOCUS       NM_001024613            2435 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1,
            mRNA.
ACCESSION   NM_001024613
VERSION     NM_001024613.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2435)
  AUTHORS   Zhang T, Yu S and Zhao S.
  TITLE     LncRNA FEZF1-AS1 promotes colorectal cancer progression through
            regulating the miR-363-3p/PRRX1 pathway
  JOURNAL   Adv Clin Exp Med 30 (8), 839-848 (2021)
   PUBMED   34286520
  REMARK    GeneRIF: LncRNA FEZF1-AS1 promotes colorectal cancer progression
            through regulating the miR-363-3p/PRRX1 pathway.
REFERENCE   2  (bases 1 to 2435)
  AUTHORS   Liu X, Li X and Li J.
  TITLE     Long Non-coding RNA FEZF1-AS1 Promotes Growth and Reduces Apoptosis
            Through Regulation of miR-363-3p/PAX6 Axis in Retinoblastoma
  JOURNAL   Biochem Genet 59 (3), 637-651 (2021)
   PUBMED   33432525
  REMARK    GeneRIF: Long Non-coding RNA FEZF1-AS1 Promotes Growth and Reduces
            Apoptosis Through Regulation of miR-363-3p/PAX6 Axis in
            Retinoblastoma.
REFERENCE   3  (bases 1 to 2435)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2435)
  AUTHORS   Liu W, Li Y, Zhang Y, Shen X, Su Z, Chen L, Cai W, Wang F and Ju S.
  TITLE     Circulatinglong non-coding RNA FEZF1-AS1 and AFAP1-AS1 serve as
            potential diagnostic biomarkers for gastric cancer
  JOURNAL   Pathol Res Pract 216 (1), 152757 (2020)
   PUBMED   31785996
  REMARK    GeneRIF: Circulatinglong non-coding RNA FEZF1-AS1 and AFAP1-AS1
            serve as potential diagnostic biomarkers for gastric cancer.
REFERENCE   5  (bases 1 to 2435)
  AUTHORS   Kotan LD, Hutchins BI, Ozkan Y, Demirel F, Stoner H, Cheng PJ, Esen
            I, Gurbuz F, Bicakci YK, Mengen E, Yuksel B, Wray S and Topaloglu
            AK.
  TITLE     Mutations in FEZF1 cause Kallmann syndrome
  JOURNAL   Am J Hum Genet 95 (3), 326-331 (2014)
   PUBMED   25192046
  REMARK    GeneRIF: Mutations in FEZF1 cause Kallmann syndrome.
REFERENCE   6  (bases 1 to 2435)
  AUTHORS   Eckler MJ and Chen B.
  TITLE     Fez family transcription factors: controlling neurogenesis and cell
            fate in the developing mammalian nervous system
  JOURNAL   Bioessays 36 (8), 788-797 (2014)
   PUBMED   24913420
  REMARK    GeneRIF: Fezf1 and Fezf2 accomplish both independent and redundant
            functions across diverse tissue and cell types. [Review] Review
            article
REFERENCE   7  (bases 1 to 2435)
  AUTHORS   Song IS, Ha GH, Kim JM, Jeong SY, Lee HC, Kim YS, Kim YJ, Kwon TK
            and Kim NS.
  TITLE     Human ZNF312b oncogene is regulated by Sp1 binding to its promoter
            region through DNA demethylation and histone acetylation in gastric
            cancer
  JOURNAL   Int J Cancer 129 (9), 2124-2133 (2011)
   PUBMED   21170990
  REMARK    GeneRIF: the aberrant expression of ZNF312b promotes gastric
            tumorigenesis through epigenetic modification of its promoter region
            and provides a molecular mechanism for ZNF312b expression to
            contribute to the progression of gastric cancer.
REFERENCE   8  (bases 1 to 2435)
  AUTHORS   Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I,
            Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F,
            Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson
            G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ and
            Monaco AP.
  CONSRTM   IMGSAC
  TITLE     High-density SNP association study and copy number variation
            analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene
            region in autism susceptibility
  JOURNAL   Mol Psychiatry 15 (9), 954-968 (2010)
   PUBMED   19401682
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2435)
  AUTHORS   Song IS, Oh NS, Kim HT, Ha GH, Jeong SY, Kim JM, Kim DI, Yoo HS, Kim
            CH and Kim NS.
  TITLE     Human ZNF312b promotes the progression of gastric cancer by
            transcriptional activation of the K-ras gene
  JOURNAL   Cancer Res 69 (7), 3131-3139 (2009)
   PUBMED   19318583
  REMARK    GeneRIF: Study is the first to report that ZNF312b, a novel
            transcription factor, was associated with tumorigenicity of gastric
            cancer. Erratum:[Cancer Res. 2009 May 1;69(9):4092]
REFERENCE   10  (bases 1 to 2435)
  AUTHORS   Balasubramanian,R. and Crowley,W.F. Jr.
  TITLE     Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301509
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.12056.1, AY726588.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000442488.7/ ENSP00000411145.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC015983.7, AK300742.1,
            AY726588.1 and HY206093.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001024613.3.
            Summary: This gene encodes a transcriptional repressor that belongs
            to the zinc finger double domain protein family. The encoded
            protein is thought to play a role in the embryonic migration of
            gonadotropin-releasing hormone neurons into the brain. Mutations in
            this gene are associated with hypogonadotropic hypogonadism-22 with
            anosmia. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Oct 2014].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2435
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.32"
     gene            1..2435
                     /gene="FEZF1"
                     /gene_synonym="FEZ; HH22; ZNF312B"
                     /note="FEZ family zinc finger 1"
                     /db_xref="GeneID:389549"
                     /db_xref="HGNC:HGNC:22788"
                     /db_xref="MIM:613301"
     misc_feature    245..247
                     /gene="FEZF1"
                     /gene_synonym="FEZ; HH22; ZNF312B"
                     /note="upstream in-frame stop codon"
     CDS             314..1741
                     /gene="FEZF1"
                     /gene_synonym="FEZ; HH22; ZNF312B"
                     /note="isoform 1 is encoded by transcript variant 1; zinc
                     finger protein 312B; fez family zinc finger protein 1"
                     /codon_start=1
                     /product="fez family zinc finger protein 1 isoform 1"
                     /protein_id="NP_001019784.2"
                     /db_xref="CCDS:CCDS34741.2"
                     /db_xref="GeneID:389549"
                     /db_xref="HGNC:HGNC:22788"
                     /db_xref="MIM:613301"
                     /translation="MDSSCHNATTKMLATAPARGNMMSTSKPLAFSIERIMARTPEPKA
                     LPVPHFLQGALPKGEPKHSLHLNSSIPCMIPFVPVAYDTSPKAGVTGSEPRKASLEAPA
                     APAAVPSAPAFSCSDLLNCALSLKGDLARDALPLQQYKLVRPRVVNHSSFHAMGALCYL
                     NRGDGPCHPAAGVNIHPVASYFLSSPLHPQPKTYLAERNKLVVPAVEKYPSGVAFKDLS
                     QAQLQHYMKESAQLLSEKIAFKTSDFSRGSPNAKPKVFTCEVCGKVFNAHYNLTRHMPV
                     HTGARPFVCKVCGKGFRQASTLCRHKIIHTQEKPHKCNQCGKAFNRSSTLNTHTRIHAG
                     YKPFVCEFCGKGFHQKGNYKNHKLTHSGEKQFKCNICNKAFHQVYNLTFHMHTHNDKKP
                     FTCPTCGKGFCRNFDLKKHVRKLHDSSLGLARTPAGEPGTEPPPPLPQQPPMTLPPLQP
                     PLPTPGPLQPGLHQGHQ"
     misc_feature    395..442
                     /gene="FEZF1"
                     /gene_synonym="FEZ; HH22; ZNF312B"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJY2.1);
                     Region: Engrailed homology 1 repressor.
                     /evidence=ECO:0000250"
     misc_feature    1595..1738
                     /gene="FEZF1"
                     /gene_synonym="FEZ; HH22; ZNF312B"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJY2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2400..2405
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FEZF1"
                     /gene_synonym="FEZ; HH22; ZNF312B"
                     /note="hexamer: AATAAA"
     polyA_site      2435
                     /gene="FEZF1"
                     /gene_synonym="FEZ; HH22; ZNF312B"
                     /note="major polyA site"
ORIGIN
        1 agtttacctt ctcctcttgg aagttaacga ttggcgagat cttggctgcg ttattgacac
       61 aacactttct attgatagaa ataagtagtg attgtccccg agtcattggt gcgccaagaa
      121 ctctgcgatg ggctggcagg agtccattgg gctgggcagg caggttcggc tggtgatgct
      181 ggggaggagg aggaggagga ggctactggt ggtgatggtg cccgtccccc tctccgcagg
      241 tctgtgacaa gcagggaaca aggcaacgga cggcgcaacc cagccccggc tgacggacgc
      301 tggcgactca gacatggaca gtagctgcca caacgcgact accaaaatgt tagcgactgc
      361 tccagctcgg ggcaacatga tgagcacgtc caaacccttg gctttctcca ttgaacgaat
      421 catggcgcgc accccagagc ccaaggccct gccagtcccc cacttcctgc agggagcctt
      481 acccaagggg gaacccaagc actctctgca tctcaactcg tcgatcccct gcatgatccc
      541 cttcgtgcct gtggcctacg acacgagccc caaggcagga gtgacgggct ccgagccgcg
      601 gaaggccagt ctggaggccc cggcggcgcc cgcggcggtg ccctcggctc ccgcattcag
      661 ctgcagcgac ctgctcaact gcgcactgag tctcaagggc gacctggccc gcgacgcgct
      721 gccgctgcag cagtacaagc tggtaaggcc gcgtgtggtc aaccactctt cattccacgc
      781 catgggcgcc ttgtgctacc tgaaccgagg tgacggccca tgccacccgg cagccggcgt
      841 gaacatccac ccggtggcct cctacttcct cagttcccct ttgcacccgc agccaaaaac
      901 gtatttagcc gaaaggaata aactggtggt cccggcggtg gagaaatacc cttctggagt
      961 agctttcaaa gacctgtccc aggctcagct gcagcattac atgaaagaaa gcgcccagct
     1021 tctgtcggaa aaaatcgcgt tcaaaacctc ggatttcagc cgaggctctc ctaatgccaa
     1081 gcccaaagtt ttcacttgcg aagtgtgtgg aaaggtcttt aatgcgcact ataacttaac
     1141 ccgtcacatg ccagtgcaca caggagccag acccttcgtt tgcaaagtgt gcggaaaagg
     1201 tttcaggcaa gcaagcaccc tgtgcaggca caagatcatt cacacgcagg aaaaacctca
     1261 caaatgtaac cagtgtggca aagcatttaa tagaagttcc actttaaaca ctcatacccg
     1321 aatacacgcg ggctacaaac cgtttgtgtg tgaattctgt ggcaaagggt ttcatcaaaa
     1381 agggaattac aaaaaccaca agttgaccca cagcggggag aagcagttca agtgcaatat
     1441 ctgcaacaag gctttccacc aggtttacaa cctcaccttc cacatgcaca cccacaacga
     1501 caagaagcct ttcacctgcc ccacgtgcgg caagggtttc tgcaggaact ttgacctcaa
     1561 gaagcatgtc cgcaagctgc acgacagcag cctggggctg gcccgcacgc cagctggcga
     1621 accaggcact gaaccgccgc ccccgctacc gcagcagccg ccgatgacgc tgcctcctct
     1681 gcagccgccg ctgccaaccc cggggcccct gcagcccggg ctccaccagg gccaccagtg
     1741 atcgaggcta agggtcctcc cagcctcagc cgtgccccca cgctgaggca gcggcagact
     1801 agagctcctg gtccgagttc gtctgcagac cccagggcat gttgggcccc acacttcagg
     1861 gccgaccaga agcctctgca tcccctggcc tttcgcctct tgcatgcacc tgctaaatgg
     1921 ttttgtgtat tatattctat ataggcacta acaattatga aaaatttgga gggttttgct
     1981 tgttttctgt ttttcttttt cttttttttt aatttggaaa gacttttcat cttgggtgga
     2041 gagatggtgt ttattttgtt ttgttttgtt taaacaaatt tctgctatat ttattgagat
     2101 ctgtattatt ctacccggga atgctgcatc attttaattt tattattgta tatatttcca
     2161 ttgtgttgat tctccggtct caagatgtct gctggatgtt gatcatttcc tctttccctg
     2221 aagtaacaaa acactgtgtg tatgtcatat atacacgcat agatgtgtgc gcccataggg
     2281 gtacattcca cattcgtgag cacacaccca tacacattag ataagggtgg ttcattatgg
     2341 atgattttga attttggttt tgattattgc acgtgaaaat tgattcattg actgttggaa
     2401 ataaatactt ggaacatgct tatttaatca acaaa
//
LOCUS       NM_001024630            5540 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens RUNX family transcription factor 2 (RUNX2), transcript
            variant 1, mRNA.
ACCESSION   NM_001024630
VERSION     NM_001024630.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5540)
  AUTHORS   Hu G, Yu Y, Sharma D, Pruett-Miller SM, Ren Y, Zhang GF and Karner
            CM.
  TITLE     Glutathione limits RUNX2 oxidation and degradation to regulate bone
            formation
  JOURNAL   JCI Insight 8 (16), e166888 (2023)
   PUBMED   37432749
  REMARK    GeneRIF: Glutathione limits RUNX2 oxidation and degradation to
            regulate bone formation. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5540)
  AUTHORS   Thaweesapphithak S, Theerapanon T, Rattanapornsompong K, Intarak N,
            Kanpittaya P, Trachoo V, Porntaveetus T and Shotelersuk V.
  TITLE     Functional consequences of C-terminal mutations in RUNX2
  JOURNAL   Sci Rep 13 (1), 12202 (2023)
   PUBMED   37500953
  REMARK    GeneRIF: Functional consequences of C-terminal mutations in RUNX2.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5540)
  AUTHORS   Zhang Y, Huang J, Yan L, Jia R and Guo J.
  TITLE     HnRNP A1 Suppresses the Odontogenic Differentiation and the
            Inclusion of RUNX2 Exon 5 of Dental Mesenchymal Cells
  JOURNAL   Front Biosci (Landmark Ed) 28 (7), 139 (2023)
   PUBMED   37525910
  REMARK    GeneRIF: HnRNP A1 Suppresses the Odontogenic Differentiation and the
            Inclusion of RUNX2 Exon 5 of Dental Mesenchymal Cells.
REFERENCE   4  (bases 1 to 5540)
  AUTHORS   Drissi H, Luc Q, Shakoori R, Chuva De Sousa Lopes S, Choi JY, Terry
            A, Hu M, Jones S, Neil JC, Lian JB, Stein JL, Van Wijnen AJ and
            Stein GS.
  TITLE     Transcriptional autoregulation of the bone related CBFA1/RUNX2 gene
  JOURNAL   J Cell Physiol 184 (3), 341-350 (2000)
   PUBMED   10911365
REFERENCE   5  (bases 1 to 5540)
  AUTHORS   Geoffroy V, Corral DA, Zhou L, Lee B and Karsenty G.
  TITLE     Genomic organization, expression of the human CBFA1 gene, and
            evidence for an alternative splicing event affecting protein
            function
  JOURNAL   Mamm Genome 9 (1), 54-57 (1998)
   PUBMED   9434946
REFERENCE   6  (bases 1 to 5540)
  AUTHORS   Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S,
            Lindhout D, Cole WG, Henn W, Knoll JH, Owen MJ, Mertelsmann R, Zabel
            BU and Olsen BR.
  TITLE     Mutations involving the transcription factor CBFA1 cause
            cleidocranial dysplasia
  JOURNAL   Cell 89 (5), 773-779 (1997)
   PUBMED   9182765
REFERENCE   7  (bases 1 to 5540)
  AUTHORS   Feldman GJ, Robin NH, Brueton LA, Robertson E, Thompson EM,
            Siegel-Bartelt J, Gasser DL, Bailey LC, Zackai EH and Muenke M.
  TITLE     A gene for cleidocranial dysplasia maps to the short arm of
            chromosome 6
  JOURNAL   Am J Hum Genet 56 (4), 938-943 (1995)
   PUBMED   7717404
REFERENCE   8  (bases 1 to 5540)
  AUTHORS   Levanon D, Negreanu V, Bernstein Y, Bar-Am I, Avivi L and Groner Y.
  TITLE     AML1, AML2, and AML3, the human members of the runt domain
            gene-family: cDNA structure, expression, and chromosomal
            localization
  JOURNAL   Genomics 23 (2), 425-432 (1994)
   PUBMED   7835892
REFERENCE   9  (bases 1 to 5540)
  AUTHORS   Ogawa E, Maruyama M, Kagoshima H, Inuzuka M, Lu J, Satake M,
            Shigesada K and Ito Y.
  TITLE     PEBP2/PEA2 represents a family of transcription factors homologous
            to the products of the Drosophila runt gene and the human AML1 gene
  JOURNAL   Proc Natl Acad Sci U S A 90 (14), 6859-6863 (1993)
   PUBMED   8341710
REFERENCE   10  (bases 1 to 5540)
  AUTHORS   Machol,K., Mendoza-Londono,R. and Lee,B.
  TITLE     Cleidocranial Dysplasia Spectrum Disorder
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301686
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2146982 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            inferred exon combination :: PMID: 9434946
            MANE Ensembl match        :: ENST00000647337.2/ ENSP00000495497.1
            RefSeq Select criteria    :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL096865.28, AL358135.19 and
            AL161907.17.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 24, 2018 this sequence version replaced NM_001024630.3.
            Summary: This gene is a member of the RUNX family of transcription
            factors and encodes a nuclear protein with an Runt DNA-binding
            domain. This protein is essential for osteoblastic differentiation
            and skeletal morphogenesis and acts as a scaffold for nucleic acids
            and regulatory factors involved in skeletal gene expression. The
            protein can bind DNA both as a monomer or, with more affinity, as a
            subunit of a heterodimeric complex. Two regions of potential
            trinucleotide repeat expansions are present in the N-terminal
            region of the encoded protein, and these and other mutations in
            this gene have been associated with the bone development disorder
            cleidocranial dysplasia (CCD). Transcript variants that encode
            different protein isoforms result from the use of alternate
            promoters as well as alternate splicing. [provided by RefSeq, Jul
            2016].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a, also known as OSF2/CBFA1a).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments. There are no full-length
            transcripts supporting this RefSeq in human; however, it is
            represented based on PMID: 9434946, and full-length transcript
            support from the mouse homolog (GeneID: 12393, AF010284.1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5540
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..5540
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="RUNX family transcription factor 2"
                     /db_xref="GeneID:860"
                     /db_xref="HGNC:HGNC:10472"
                     /db_xref="MIM:600211"
     CDS             198..1763
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="isoform a is encoded by transcript variant 1;
                     core-binding factor, runt domain, alpha subunit 1; acute
                     myeloid leukemia 3 protein; SL3-3 enhancer factor 1 alpha A
                     subunit; runt related transcription factor 2; SL3/AKV
                     core-binding factor alpha A subunit; osteoblast-specific
                     transcription factor 2; PEA2-alpha A; PEBP2-alpha A;
                     oncogene AML-3; polyomavirus enhancer-binding protein 2
                     alpha A subunit"
                     /codon_start=1
                     /product="runt-related transcription factor 2 isoform a"
                     /protein_id="NP_001019801.3"
                     /db_xref="CCDS:CCDS43467.2"
                     /db_xref="GeneID:860"
                     /db_xref="HGNC:HGNC:10472"
                     /db_xref="MIM:600211"
                     /translation="MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSPV
                     VAAQQQQQQQQQQQQQQQQQQQQQQQEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVE
                     IIADHPAELVRTDSPNFLCSVLPSHWRCNKTLPVAFKVVALGEVPDGTVVTVMAGNDEN
                     YSAELRNASAVMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKVTVD
                     GPREPRRHRQKLDDSKPSLFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQG
                     QSQITDPRQAQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRIS
                     DDDTATSDFCLWPSTLSKKSQAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFT
                     YTPPVTSGMSLGMSATTHYHTYLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFPM
                     VPGGDRSPSRMLPPCTTTSNGSTLLNPNLPNQNDGVDADGSHSSSPTVLNSSGRMDESV
                     WRPY"
     misc_feature    249..374
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13950.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    342..410
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="23Q repeat; Region: polyglutamine repeat"
     misc_feature    414..464
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="17A repeat; Region: polyalanine repeat"
     misc_feature    861..1217
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13950.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    921..971
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13950.2);
                     Region: Required for interaction with FOXO1.
                     /evidence=ECO:0000250"
     misc_feature    996..998
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q08775; propagated from
                     UniProtKB/Swiss-Prot (Q13950.2); methylation site"
     misc_feature    1203..1514
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13950.2);
                     Region: Interaction with KAT6A. /evidence=ECO:0000250"
     misc_feature    1215..1217
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336; propagated from
                     UniProtKB/Swiss-Prot (Q13950.2); phosphorylation site"
     misc_feature    1317..1601
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13950.2);
                     Region: Interaction with KAT6B.
                     /evidence=ECO:0000269|PubMed:11965546"
     misc_feature    1548..1550
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:16407259; propagated from
                     UniProtKB/Swiss-Prot (Q13950.2); phosphorylation site"
     misc_feature    1575..1760
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13950.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      5514..5519
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="hexamer: AATAAA"
     polyA_site      5540
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="major polyA site"
ORIGIN
        1 attcgcctca caaacaacca cagaaccaca agtgcggtgc aaactttctc caggaggaca
       61 gcaagaagtc tctggttttt aaatggttaa tctccgcagg tcactaccag ccaccgagac
      121 caacagagtc atttaaggct gcaagcagta tttacaacag agggtacaag ttctatctga
      181 aaaaaaaagg agggactatg gcatcaaaca gcctcttcag cacagtgaca ccatgtcagc
      241 aaaacttctt ttgggatccg agcaccagcc ggcgcttcag ccccccctcc agcagcctgc
      301 agcccggcaa aatgagcgac gtgagcccgg tggtggctgc gcaacagcag cagcaacagc
      361 agcagcagca acagcagcag cagcagcagc aacagcagca gcagcagcag gaggcggcgg
      421 cggcggctgc ggcggcggcg gcggctgcgg cggcggcagc tgcagtgccc cggttgcggc
      481 cgccccacga caaccgcacc atggtggaga tcatcgccga ccacccggcc gaactcgtcc
      541 gcaccgacag ccccaacttc ctgtgctcgg tgctgccctc gcactggcgc tgcaacaaga
      601 ccctgcccgt ggccttcaag gtggtagccc tcggagaggt accagatggg actgtggtta
      661 ctgtcatggc gggtaacgat gaaaattatt ctgctgagct ccggaatgcc tctgctgtta
      721 tgaaaaacca agtagcaagg ttcaacgatc tgagatttgt gggccggagt ggacgaggca
      781 agagtttcac cttgaccata accgtcttca caaatcctcc ccaagtagct acctatcaca
      841 gagcaattaa agttacagta gatggacctc gggaacccag aaggcacaga cagaagcttg
      901 atgactctaa acctagtttg ttctctgacc gcctcagtga tttagggcgc attcctcatc
      961 ccagtatgag agtaggtgtc ccgcctcaga acccacggcc ctccctgaac tctgcaccaa
     1021 gtccttttaa tccacaagga cagagtcaga ttacagaccc caggcaggca cagtcttccc
     1081 cgccgtggtc ctatgaccag tcttacccct cctacctgag ccagatgacg tccccgtcca
     1141 tccactctac caccccgctg tcttccacac ggggcactgg gcttcctgcc atcaccgatg
     1201 tgcctaggcg catttcagat gatgacactg ccacctctga cttctgcctc tggccttcca
     1261 ctctcagtaa gaagagccag gcaggtgctt cagaactggg ccctttttca gaccccaggc
     1321 agttcccaag catttcatcc ctcactgaga gccgcttctc caacccacga atgcactatc
     1381 cagccacctt tacttacacc ccgccagtca cctcaggcat gtccctcggt atgtccgcca
     1441 ccactcacta ccacacctac ctgccaccac cctaccccgg ctcttcccaa agccagagtg
     1501 gacccttcca gaccagcagc actccatatc tctactatgg cacttcgtca ggatcctatc
     1561 agtttcccat ggtgccgggg ggagaccggt ctccttccag aatgcttccg ccatgcacca
     1621 ccacctcgaa tggcagcacg ctattaaatc caaatttgcc taaccagaat gatggtgttg
     1681 acgctgatgg aagccacagc agttccccaa ctgttttgaa ttctagtggc agaatggatg
     1741 aatctgtttg gcgaccatat tgaaattcct cagcagtggc ccagtggtat ctgggggcca
     1801 catcccacac gtatcaatat atacatatat agagagagtg catatatatg tatatcgatt
     1861 agctatctac aaagtgccta ttttttagaa gatttttcat tcactcactc agtcatgatc
     1921 ttgcagccat aagagggtag atattgagaa gcagaaggct caagagagac aattgcaatc
     1981 gagcttcaga ttgtttacta tttaagatgt acttttacaa aggaacaaag aagggaaaag
     2041 gtatttttgt ttttgttgtt tggtctgtta tcatcaataa cctgttcata tgccaattca
     2101 gagaggtgga ctccaggttc aggagggaga agagcaaagc cgcttcctct ctgtgctttg
     2161 aaacttcaca ccctcacggt ggcagctgtg tatggaccag tgccctccgc agacagctca
     2221 caaaaccagt tgaggtgcac taaagggaca tgaggtagaa tggatgcttc catcacagta
     2281 ccatcattca gaataactct tccaatttct gctttcagac atgctgcagg tcctcatctg
     2341 aactgttggg ttcgtttttt tttttttttt tcctgctcca agaaagtgac ttcaaaaata
     2401 actgatcagg atagattatt ttattttact ttttaacact ccttctcccc ttttcccact
     2461 gaaccaaaaa gaaatcccat ccctaaaacc tgccttctcc ttttatgcaa aactgaaaat
     2521 ggcaatacat tattatagcc ataatggtat agatagtgat tgcgtttggc tatgtgttgt
     2581 tttctttttt tttaaattat gaatatgtgt aaaatctgag gtaacttgct aacgtgaatg
     2641 gtcatataac tttaaagata tatttataat tatttaatga catttggacc cttgaaacat
     2701 ttcttagtgt attgatatgt tgacttcggt ctctaaaagt gctctttatt aaataacaaa
     2761 tttcttcagt ggtctagagc catatctgaa atattgctaa gcaatttcag ttcatccagg
     2821 cacaatgtga ttttaaaaaa tacttccatc tccaaatatt ttagatatag attgtttttg
     2881 tgatgtatga aggaaatgtt atgtttagtt ctttcagatc tttgaatgcc tctaacacag
     2941 ctttgccttc taaagcggta attagggatt taaaaaacaa cctttagccc tttatcagca
     3001 tgaaatgctg gagtgatgtg gttttctaat ttctttgggg taattatgac tcttgtcata
     3061 ttaaaaagac aagcacaagt aaatcattga actacagaaa aatgttctgt ggtttcatag
     3121 ttaagcaaaa ctctaaatcg ccaggcttca tagcaaagac atagtcagct aaaagccgca
     3181 catgtggata gagggttcaa ttatgagaca cctagtacag gagagcaaaa ttgcaccaga
     3241 gattcttaac caaccagcct taccaaacaa cacaacaggg gaaccccaat ctgccttacc
     3301 caaggcccca ctggcagctt tccacagaat ttgcatttag aggagcagaa tgacatcact
     3361 gtcctttggg agtaggtcct ctgaaaaggc agcaggttcc agcaggtagc tgagctgaga
     3421 ggacatatgg cccacgggga cctacagaca gcctttgaca tttgtatttc ttacaatgga
     3481 gggccaagga gggcaagggg ctgtggagtt tggtgtctac tagtgtgtat gaatttgagc
     3541 tagagtcctt ctgtggcatg cactttgacc actcctggca gtcacatggc agatttccaa
     3601 gtgcaaatcc ttaatccaaa caaggatcat ctaatgacac caccaggcca atccctgctc
     3661 tcctccccga aaagtcaggg tcccttcatt ggaatcctcc acccacccaa gcagaattta
     3721 gcagagattt gccttcaaac cctaacggcc cccttgttct ctggtccttc tcaaacccac
     3781 ctttgtaggc cacccagcat tgcaggacag cgtgtggggc agctggacct gtgcttcctg
     3841 cctgggagtc tcccttggaa ttcatcctga ctccttctaa taaaaatgga tgggaaagca
     3901 aaacactttg ccttctaaag gccgtatacc aagtatgctt agataaataa gccacttttc
     3961 tattacttaa gtaagaagga agtagtaatt gatactattt attgtttgtg tgtggtagct
     4021 tgaagcacac cactgtccat ttatttgtaa gtgtaaaata tgtgtgtttg tttcagcagc
     4081 acttaaaaaa gccagtgtct ggttacacat ttcaatttta attaattgac ataaaaatgc
     4141 taccgccagt gccagctgca tcctatttaa ttaaaaaggt actatatttg tacattattt
     4201 tttaatgtta aaagggcttt tttaagttta cagtacacat accgagtgac tttagggatg
     4261 cttttgtgtt gaaatgttac tatagtggct gcaggcagca acccagaaac actttagaag
     4321 ctttttttcc ttgggaaaaa ttcaagcact tcttccctcc accctcactc caaccacccc
     4381 aatgggggta attcacattt cttagaacaa attctgccct tttttggtct agggattaaa
     4441 attttgtttt tctttctttc tttttttttt tttttcactg aacccttaat ttgcactggg
     4501 tcatgtgttt gatttgtgat ttcaagacca aagcaaagtc ttactactac tgtggaacca
     4561 tgtactagtt cctgggaatt aaaatagcgt ggttctcttt gtagcacaaa cattgctgga
     4621 atttgcagtc ttttcaatgc agccacattt ttatccattt cagttgtctc acaaatttta
     4681 acccatatca gagttccaga acaggtacca cagctttggt tttagattag tggaataaca
     4741 ttcagcccag aactgagaaa ctcaacagat taactatcgt ttgctcttta gacggtctca
     4801 ctgcctctca cttgccagag ccctttcaaa atgagcagag aagtccacac cattagggac
     4861 catctgtgat aaattcagaa gggaggagat gtgtgtacag ctttaaggat tccctcaatt
     4921 ccgaggaaag ggactggccc agaatccagg ttaatacatg gaaacacgaa gcattagcaa
     4981 aagtaataat tatacctatg gtatttgaaa gaacaataat aaaagacact tcttccaaac
     5041 cttgaatttg ttgtttttag aaaacgaatg catttaaaaa tattttctat gtgagaattt
     5101 tttagatgtg tgtttacttc atgtttacaa ataactgttt gctttttaat gcagtacttt
     5161 gaaatatatc agccaaaacc ataacttaca ataatttctt aggtattctg aataaaattc
     5221 catttctttt ggatatgctt taccattctt aggtttctgt ggaacaaaaa tatttgtagc
     5281 attttgtgta aatacaagct ttcattttta ttttttccaa ttgctattgc ccaagaattg
     5341 ctttccatgc acatattgta aaaattccgc tttgtgccac aggtcatgat tgtggatgag
     5401 tttactctta acttcaaagg gactatttgt attgtatgtt gcaactgtaa attgaattat
     5461 ttggcatttt tctcatgatt gtaatattaa tttgaagttt gaatttaatt ttcaataaaa
     5521 tggctttttt ggttttgtta
//
LOCUS       NM_001024644            5039 bp    mRNA    linear   PRI 10-JAN-2023
DEFINITION  Homo sapiens X-C motif chemokine receptor 1 (XCR1), transcript
            variant 2, mRNA.
ACCESSION   NM_001024644
VERSION     NM_001024644.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5039)
  AUTHORS   Thibord F, Chan MV, Chen MH and Johnson AD.
  TITLE     A year of COVID-19 GWAS results from the GRASP portal reveals
            potential genetic risk factors
  JOURNAL   HGG Adv 3 (2), 100095 (2022)
   PUBMED   35224516
REFERENCE   2  (bases 1 to 5039)
  AUTHORS   Wu L, Zhu J, Liu D, Sun Y and Wu C.
  TITLE     An integrative multiomics analysis identifies putative causal genes
            for COVID-19 severity
  JOURNAL   Genet Med 23 (11), 2076-2086 (2021)
   PUBMED   34183789
REFERENCE   3  (bases 1 to 5039)
  AUTHORS   Baranova A, Cao H and Zhang F.
  TITLE     Unraveling Risk Genes of COVID-19 by Multi-Omics Integrative
            Analyses
  JOURNAL   Front Med (Lausanne) 8, 738687 (2021)
   PUBMED   34557504
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5039)
  AUTHORS   Shelton JF, Shastri AJ, Ye C, Weldon CH, Filshtein-Sonmez T, Coker
            D, Symons A, Esparza-Gordillo J, Aslibekyan S and Auton A.
  CONSRTM   23andMe COVID-19 Team
  TITLE     Trans-ancestry analysis reveals genetic and nongenetic associations
            with COVID-19 susceptibility and severity
  JOURNAL   Nat Genet 53 (6), 801-808 (2021)
   PUBMED   33888907
REFERENCE   5  (bases 1 to 5039)
  AUTHORS   Ellinghaus D, Degenhardt F, Bujanda L, Buti M, Albillos A,
            Invernizzi P, Fernandez J, Prati D, Baselli G, Asselta R, Grimsrud
            MM, Milani C, Aziz F, Kassens J, May S, Wendorff M, Wienbrandt L,
            Uellendahl-Werth F, Zheng T, Yi X, de Pablo R, Chercoles AG, Palom
            A, Garcia-Fernandez AE, Rodriguez-Frias F, Zanella A, Bandera A,
            Protti A, Aghemo A, Lleo A, Biondi A, Caballero-Garralda A, Gori A,
            Tanck A, Carreras Nolla A, Latiano A, Fracanzani AL, Peschuck A,
            Julia A, Pesenti A, Voza A, Jimenez D, Mateos B, Nafria Jimenez B,
            Quereda C, Paccapelo C, Gassner C, Angelini C, Cea C, Solier A,
            Pestana D, Muniz-Diaz E, Sandoval E, Paraboschi EM, Navas E, Garcia
            Sanchez F, Ceriotti F, Martinelli-Boneschi F, Peyvandi F, Blasi F,
            Tellez L, Blanco-Grau A, Hemmrich-Stanisak G, Grasselli G,
            Costantino G, Cardamone G, Foti G, Aneli S, Kurihara H, ElAbd H, My
            I, Galvan-Femenia I, Martin J, Erdmann J, Ferrusquia-Acosta J,
            Garcia-Etxebarria K, Izquierdo-Sanchez L, Bettini LR, Sumoy L,
            Terranova L, Moreira L, Santoro L, Scudeller L, Mesonero F, Roade L,
            Ruhlemann MC, Schaefer M, Carrabba M, Riveiro-Barciela M, Figuera
            Basso ME, Valsecchi MG, Hernandez-Tejero M, Acosta-Herrera M,
            D'Angio M, Baldini M, Cazzaniga M, Schulzky M, Cecconi M, Wittig M,
            Ciccarelli M, Rodriguez-Gandia M, Bocciolone M, Miozzo M, Montano N,
            Braun N, Sacchi N, Martinez N, Ozer O, Palmieri O, Faverio P,
            Preatoni P, Bonfanti P, Omodei P, Tentorio P, Castro P, Rodrigues
            PM, Blandino Ortiz A, de Cid R, Ferrer R, Gualtierotti R, Nieto R,
            Goerg S, Badalamenti S, Marsal S, Matullo G, Pelusi S, Juzenas S,
            Aliberti S, Monzani V, Moreno V, Wesse T, Lenz TL, Pumarola T,
            Rimoldi V, Bosari S, Albrecht W, Peter W, Romero-Gomez M, D'Amato M,
            Duga S, Banales JM, Hov JR, Folseraas T, Valenti L, Franke A and
            Karlsen TH.
  CONSRTM   Severe Covid-19 GWAS Group
  TITLE     Genomewide Association Study of Severe Covid-19 with Respiratory
            Failure
  JOURNAL   N Engl J Med 383 (16), 1522-1534 (2020)
   PUBMED   32558485
REFERENCE   6  (bases 1 to 5039)
  AUTHORS   Lei Y and Takahama Y.
  TITLE     XCL1 and XCR1 in the immune system
  JOURNAL   Microbes Infect 14 (3), 262-267 (2012)
   PUBMED   22100876
  REMARK    Review article
REFERENCE   7  (bases 1 to 5039)
  AUTHORS   Maghazachi AA.
  TITLE     Intracellular signalling pathways induced by chemokines in natural
            killer cells
  JOURNAL   Cell Signal 11 (6), 385-390 (1999)
   PUBMED   10400311
  REMARK    Review article
REFERENCE   8  (bases 1 to 5039)
  AUTHORS   Yoshida T, Imai T, Kakizaki M, Nishimura M, Takagi S and Yoshie O.
  TITLE     Identification of single C motif-1/lymphotactin receptor XCR1
  JOURNAL   J Biol Chem 273 (26), 16551-16554 (1998)
   PUBMED   9632725
REFERENCE   9  (bases 1 to 5039)
  AUTHORS   Heiber M, Docherty JM, Shah G, Nguyen T, Cheng R, Heng HH, Marchese
            A, Tsui LC, Shi X, George SR et al.
  TITLE     Isolation of three novel human genes encoding G protein-coupled
            receptors
  JOURNAL   DNA Cell Biol 14 (1), 25-35 (1995)
   PUBMED   7832990
REFERENCE   10  (bases 1 to 5039)
  AUTHORS   Gao JL, Kuhns DB, Tiffany HL, McDermott D, Li X, Francke U and
            Murphy PM.
  TITLE     Structure and functional expression of the human macrophage
            inflammatory protein 1 alpha/RANTES receptor
  JOURNAL   J Exp Med 177 (5), 1421-1427 (1993)
   PUBMED   7683036
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK314277.1, DA847074.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
            variant(s)
            MANE Ensembl match          :: ENST00000309285.4/ ENSP00000310405.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB189435.1, BC069075.1,
            BC095533.1 and AC099782.2.
            On Jun 2, 2019 this sequence version replaced NM_001024644.1.
            Summary: The protein encoded by this gene is a chemokine receptor
            belonging to the G protein-coupled receptor superfamily. The family
            members are characterized by the presence of 7 transmembrane
            domains. The encoded protein transduces a signal by increasing the
            intracellular calcium ion level. The viral macrophage inflammatory
            protein-II is an antagonist of this receptor and blocks signaling.
            Some studies have implicated a cluster of genes at 3p21.31,
            including this gene, as associated with COVID-19 risk. The encoded
            protein may also play a role in cell proliferation and migration in
            several types of cancer. [provided by RefSeq, Jan 2023].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 3. All three variants encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 5' end.
FEATURES             Location/Qualifiers
     source          1..5039
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..5039
                     /gene="XCR1"
                     /gene_synonym="CCXCR1; GPR5"
                     /note="X-C motif chemokine receptor 1"
                     /db_xref="GeneID:2829"
                     /db_xref="HGNC:HGNC:1625"
                     /db_xref="MIM:600552"
     CDS             99..1100
                     /gene="XCR1"
                     /gene_synonym="CCXCR1; GPR5"
                     /note="chemokine (C motif) XC receptor 1; lymphotactin
                     receptor; G protein-coupled receptor 5; chemokine (C motif)
                     receptor 1; XC chemokine receptor 1"
                     /codon_start=1
                     /product="chemokine XC receptor 1"
                     /protein_id="NP_001019815.1"
                     /db_xref="CCDS:CCDS2736.1"
                     /db_xref="GeneID:2829"
                     /db_xref="HGNC:HGNC:1625"
                     /db_xref="MIM:600552"
                     /translation="MESSGNPESTTFFYYDLQSQPCENQAWVFATLATTVLYCLVFLLS
                     LVGNSLVLWVLVKYESLESLTNIFILNLCLSDLVFACLLPVWISPYHWGWVLGDFLCKL
                     LNMIFSISLYSSIFFLTIMTIHRYLSVVSPLSTLRVPTLRCRVLVTMAVWVASILSSIL
                     DTIFHKVLSSGCDYSELTWYLTSVYQHNLFFLLSLGIILFCYVEILRTLFRSRSKRRHR
                     TVKLIFAIVVAYFLSWGPYNFTLFLQTLFRTQIIRSCEAKQQLEYALLICRNLAFSHCC
                     FNPVLYVFVGVKFRTHLKHVLRQFWFCRLQAPSPASIPHSPGAFAYEGASFY"
     misc_feature    192..275
                     /gene="XCR1"
                     /gene_synonym="CCXCR1; GPR5"
                     /note="propagated from UniProtKB/Swiss-Prot (P46094.1);
                     transmembrane region"
     misc_feature    306..365
                     /gene="XCR1"
                     /gene_synonym="CCXCR1; GPR5"
                     /note="propagated from UniProtKB/Swiss-Prot (P46094.1);
                     transmembrane region"
     misc_feature    408..473
                     /gene="XCR1"
                     /gene_synonym="CCXCR1; GPR5"
                     /note="propagated from UniProtKB/Swiss-Prot (P46094.1);
                     transmembrane region"
     misc_feature    525..599
                     /gene="XCR1"
                     /gene_synonym="CCXCR1; GPR5"
                     /note="propagated from UniProtKB/Swiss-Prot (P46094.1);
                     transmembrane region"
     misc_feature    669..725
                     /gene="XCR1"
                     /gene_synonym="CCXCR1; GPR5"
                     /note="propagated from UniProtKB/Swiss-Prot (P46094.1);
                     transmembrane region"
     misc_feature    774..848
                     /gene="XCR1"
                     /gene_synonym="CCXCR1; GPR5"
                     /note="propagated from UniProtKB/Swiss-Prot (P46094.1);
                     transmembrane region"
     misc_feature    900..971
                     /gene="XCR1"
                     /gene_synonym="CCXCR1; GPR5"
                     /note="propagated from UniProtKB/Swiss-Prot (P46094.1);
                     transmembrane region"
     regulatory      2592..2597
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XCR1"
                     /gene_synonym="CCXCR1; GPR5"
                     /note="hexamer: AATAAA"
     polyA_site      2619
                     /gene="XCR1"
                     /gene_synonym="CCXCR1; GPR5"
                     /note="major polyA site"
ORIGIN
        1 aagtgaaata tgaaacagag aagcaccatt tctgcctcaa gacgcatgta aagaggtgta
       61 gattcagatg ctctaaacgt ccctgccatc tggtccagat ggagtcctca ggcaacccag
      121 agagcaccac ctttttttac tatgaccttc agagccagcc gtgtgagaac caggcctggg
      181 tctttgctac cctcgccacc actgtcctat actgcctggt gtttctcctc agcctagtgg
      241 gcaacagcct ggtcctgtgg gtcctggtga agtatgagag cctggagtcc ctcaccaaca
      301 tcttcatcct caacctgtgc ctctcagacc tggtgttcgc ctgcttgttg cctgtgtgga
      361 tctccccata ccactggggc tgggtgctgg gagacttcct ctgcaaactc ctcaatatga
      421 tcttctccat cagcctctac agcagcatct tcttcctgac catcatgacc atccaccgct
      481 acctgtcggt agtgagcccc ctctccaccc tgcgcgtccc caccctccgc tgccgggtgc
      541 tggtgaccat ggctgtgtgg gtagccagca tcctgtcctc catcctcgac accatcttcc
      601 acaaggtgct ttcttcgggc tgtgattatt ccgaactcac gtggtacctc acctccgtct
      661 accagcacaa cctcttcttc ctgctgtccc tggggattat cctgttctgc tacgtggaga
      721 tcctcaggac cctgttccgc tcacgctcca agcggcgcca ccgcacggtc aagctcatct
      781 tcgccatcgt ggtggcctac ttcctcagct ggggtcccta caacttcacc ctgtttctgc
      841 agacgctgtt tcggacccag atcatccgga gctgcgaggc caaacagcag ctagaatacg
      901 ccctgctcat ctgccgcaac ctcgccttct cccactgctg ctttaacccg gtgctctatg
      961 tcttcgtggg ggtcaagttc cgcacacacc tgaaacatgt tctccggcag ttctggttct
     1021 gccggctgca ggcacccagc ccagcctcga tcccccactc ccctggtgcc ttcgcctatg
     1081 agggcgcctc cttctactga ggggcctgtg gcggtgcagg cgcaggtgca ggtggacagg
     1141 gactggaatg ggggtcatgg agaagcgggc ctggaaggag cattgcagaa cacagcaggg
     1201 tggagacgtc tcctccgctg caggcgtgca gtgaaggtca ttcattacac cagtgggtcc
     1261 cgccagcctc tcatctgcgg gaaagtggct tcctacctgg gaattttata ctgccatcca
     1321 aaaaaacatt tcttgaactc tgagttcatc ttgcacgctc cttcatttag acatgtgttt
     1381 ctaatcactg tttagttcag aaggttctaa gacatgaaag gattctggga aaggtgcttc
     1441 cttggagact ttacagggcc taaagctcat tgtgataact gcacgatgct gacaagacaa
     1501 tgcctccctt ccctgactgt aaggttgtcc ctactggttt attcactttg gaggcgcctg
     1561 gctccgtatt cctcaggtac tgctggatga ggctgtctgg aagacaaaag tcgccatacc
     1621 ctgagataag cagtcatgtt gatatctgga ttctaaaaat ccacaactag actggagaaa
     1681 tgttctgtat cctggattca agtcctagcc cacgaactgg cccttaaaaa tttagctcat
     1741 aaatatttga ttgaaggaat gaatttaata agtgctacct tctgcactaa gtatttattc
     1801 agagaataca aagatgaatg agatacagtt gctaccctcc aggggccaac agcccagctc
     1861 caaaggctca cctaccttgg tgaacaccca ccttggtgaa ggcatctagg gtggactcct
     1921 ccgacatctc atccttccca ggtggatagt gagctgactt cacatttatc actttgtacc
     1981 taaagtgtcc tcctcctatt tggttgatgg tggtagctcc ccccacccac ccacactcca
     2041 aacctcaagt cctcttggag gcctgtgttt tcttttcctc aactcccaca gccaggtcca
     2101 aatgactatg cctgtctagt ggctttcaga gttgactcat tcttgccatt gcatgcccat
     2161 ggtttcatcc ctgaaacagg gcctcacttc cttggcatct ccccactgct cctctctttc
     2221 cccaccaggc tgttctctgc ccttacacca ggtgcttcaa aacccttagt ggctcctcat
     2281 tacttacaaa tgaagtccat acactttagc aaggctttca aggcctccac aatccgatgc
     2341 cagccaactt ttccattctt attccactct aagcctcctc cccacagcag cttgggatcc
     2401 aaccccaaaa caccactggc cttctttcag acacatatct ccccagtacc ctacctctag
     2461 gcatttgtca tgctgtcacc tgggcctgga acatgttcta gctgacaggc cagcttctcc
     2521 aggaagccct ccctaatctg caaattagaa cattctctgg gttgtcgtgg gattctgctt
     2581 gtcccctcta aaataaaaca accttgtgtt gtagttacac acatgcaatg tcttatctcc
     2641 ctgccccatc aggctgcaag cttcttgagg gcaggaacct ggtcttgaac cccagtgttc
     2701 tatcactgtg tgctcagtgg gagcaaagaa tcaacagctg ttattatcct tcagatttat
     2761 gcttcttggg gagccatgcc ctggggcaca ctttaccttc tttgtcccag gctgcttctc
     2821 tataaatatt aacctttctt tcctagtcta cactctcaga gagtagtaga aagagagtag
     2881 ggtgtagtag tagagagatt gcttatctct ctctgtggcg atggctatgc ttcaccttgc
     2941 cttctagttc atggtacgca tccctgcctc tcacactggc ccattgcttc acacccaagg
     3001 gcataaataa aagccactct ctaaactttg ccatgccaca aagacctggg cccaatctgt
     3061 gaacctgatt tggctctggc gtggggattt ggaaaagctt cccatgcgat tctgacatgc
     3121 accttcatta ggtacatttg gctgcaactt ttttaaaaaa tgaggagtcc agagtcttct
     3181 acagtccctt gagcagggat ttgcacacag aagacactca atatcttgtt attgaataaa
     3241 gtagatacca atgtagccct ctggccaacc tagagagagc ttgtaaggca tttccccttc
     3301 agttccagat gcaacttcaa tgatctattt gccaatgggg cagtagatct ggaggagttt
     3361 atcggtctag ggaagagcca gggcctagtt ttaataatga ggccagtagc acctgctgga
     3421 cagggctggg cggcatacca gtgaagggaa ggggctccca tggacctacc tgccagccta
     3481 caggtggggc cactactcac caccgatggg agaaacagca taaggaagag ataatgaggt
     3541 agtttgtggt atcagagcta agcctatggg cttctagttg gcctaatctt tcaaacacag
     3601 tttcacactg attcttaaca ttttgttcaa cttttactca gagggcaggc tgagccaggg
     3661 agcaaaaagg caaaggactc ctactcacat acccacttag caaaaccaaa gcaccttggg
     3721 ctttgaaccc acccttctta gaaggcaggt ttgggggttg aggccccttg agaagctcac
     3781 ttcaccctct ccccatgcca tcccattcct acccatccca agatgcttct cttgtatttc
     3841 tttcagcaca tccagccatc tccctgggag cgtttcatat ctgactcttt atacttccag
     3901 tgatgttttg gcatccctaa tagactggct cccaaggcag tctttaatca ggagtcttcc
     3961 cctaatctag ctcctcaaga acccaaggga agaggcacaa agagaagtat gaataggaag
     4021 atagaagggt aacccagtca gagagggagt ggcagatgac actgctgaaa aggagtttcc
     4081 agagagttgc acaccatgag ccacgctgtc tgtccctgac cacaacctcc actggccacc
     4141 acctcctggg cttcccctcc ctccacccac agaaaccatt gctcaatctc aactggactc
     4201 ttgcaggcct atctctccct ccaaacagag atgtcctgga cacagagctg cagacctcta
     4261 accactcctg gaacataaaa aaacccacgg tggttctaca gcatttacac ctccagtttc
     4321 cctcagacag aatccagaag agaagaacct cgctgatctc tgagcggagc atgtctccaa
     4381 gctcaggcca gccccagaac tccaatggcc tcaactggag tggaaatccc tcaaaggcac
     4441 aaacccagtt cctaccatct ccctcagtgc ctggcaatgt ttgtggttgg ttgagtgagt
     4501 taacaggaga ccatcttttg gccttttttc tacctctgtt ttctcttact atacttgcct
     4561 acatctcatc ttctggtcaa caccaggtac tcaccccatg agcttcttgt gaacttgtct
     4621 ggggcccacc ggcctaaaca tcatcttttt tgtttggaat taagctttgt tgaacttttc
     4681 acaggtttca tttatgcaaa tgcctgtgat gggacaaaaa ggtctgcaaa catggaaacc
     4741 tggtctaaag atgtccaaag taaactgtct gtggagtcga atgacatttg agccctggac
     4801 ctaaactcca aatccaagct ctttcccact gtgaccttgg gcctctcaag gctcagtttc
     4861 ctcacctata aactgtagag aagccaataa cagactcatc cacactatga ggctgtgcat
     4921 aaggtcatgt atgtaaaact acttgctttg ttgatcattc tgtcccagat aagtatgaat
     4981 tattatgcat catttcatta aacaagaaag cttcactgtg ttaatatgca caagtaaaa
//
LOCUS       NM_001024661            2164 bp    mRNA    linear   PRI 18-APR-2022
DEFINITION  Homo sapiens PRAME family member 14 (PRAMEF14), mRNA.
ACCESSION   NM_001024661
VERSION     NM_001024661.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2164)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (bases 1 to 2164)
  AUTHORS   Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A,
            Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C,
            Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K,
            Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C,
            Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell
            RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G,
            Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye
            J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V,
            Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M,
            Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J,
            French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM,
            Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S,
            Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD,
            Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood
            J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa
            M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S,
            Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R,
            Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S,
            Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K,
            Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan
            S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G,
            Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce
            CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans
            A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL,
            Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z,
            Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R,
            Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S,
            Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD,
            Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF,
            Pandian RD, Porter KM and Prigmore E.
  TITLE     The DNA sequence and biological annotation of human chromosome 1
  JOURNAL   Nature 441 (7091), 315-321 (2006)
   PUBMED   16710414
  REMARK    Erratum:[Nature. 2006 Oct 26;443(7114):1013. Banerjee, R [added];
            Bryant, SP [added]; Burford, DC [added]; Burrill, WDH [added];
            Clegg, SM [added]; Dhami, P [added]; Dovey, O [added]; Faulkner, LM
            [added]; Gribble, SM [added]; Langford, CF [added]; Pandian, RD
            [added]; Porter, KM [added]; Prigmore, E]
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA2145743, SAMEA2148874
            [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000334600.7/ ENSP00000334410.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC243961.3.
            On Apr 9, 2014 this sequence version replaced NM_001024661.1.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..2164
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..2164
                     /gene="PRAMEF14"
                     /note="PRAME family member 14"
                     /db_xref="GeneID:729528"
                     /db_xref="HGNC:HGNC:13576"
     misc_feature    77..79
                     /gene="PRAMEF14"
                     /note="upstream in-frame stop codon"
     CDS             104..1528
                     /gene="PRAMEF14"
                     /codon_start=1
                     /product="PRAME family member 14"
                     /protein_id="NP_001019832.2"
                     /db_xref="CCDS:CCDS76109.1"
                     /db_xref="GeneID:729528"
                     /db_xref="HGNC:HGNC:13576"
                     /translation="MSIQAPPRLLELAGQSLLRDQALSISAMEELPRVLYLPLFMEAFR
                     RRHFQTLTVMVQAWPFTCLPLGSLMKTLHLETLKALLEGLHMLLTQKDRPRRWKLQVLD
                     LRDVDENFWARWPGAWALSCFPETMSKRQTAEDCPRMGEHQPLKVFIDICLKEIPQDEC
                     LRYLFQWVYQRRGLVHLCCSKLVNYLTPIKHLRKSLKIIYLNSIQQLEIRNMSWPRLIR
                     KLRCYLKEMKNLRKLVFSRCHHSMSDNELEGRLVTKFSSVFLRLEHLQLLKIKLITFFS
                     GHLEQLIRCLQNPLENLELTYGYLLEEDMKCLSQYPSLGYLKHLNLSYVLLFRISLEPL
                     GALLEKIAASLETLILEGCQIHYSQLSAILPGLSHCSQLTTFYFGRNCMSMGALKDLLC
                     HTSGLSKLSLETYPAPEESLNSLVRVDWEIFALLRAELMCTLREVRQPKRIFIGPTPCP
                     SCGSSPSEELELHLCC"
ORIGIN
        1 acccacagca ctcattcctg gagctactgc ttggttccct gagaggtccc agaactctgc
       61 aaagtgagtc cagcgctgag atttttcttg cagatctatc aggatgagca tccaggcccc
      121 acccagactc ctggagctgg cagggcagag cctgctgaga gaccaggcct tgtccatctc
      181 tgccatggag gagctgccca gggtgctcta tctcccactc ttcatggagg ccttccgcag
      241 gagacacttc cagactctga cggtgatggt gcaggcctgg cccttcacct gcctccctct
      301 gggatcactg atgaagacgc ttcatttgga gaccttaaaa gcattgctgg aagggcttca
      361 tatgctgctt acacagaagg atcgccccag gaggtggaaa cttcaagtgc tggatttgcg
      421 ggatgttgat gagaatttct gggccagatg gcctggagcc tgggccctgt cctgcttccc
      481 agagaccatg agtaagaggc agacagcaga ggactgtcca aggatgggag agcaccagcc
      541 cttaaaggtg ttcatagaca tctgcctcaa ggaaataccc caggatgaat gcctgagata
      601 cctctttcag tgggtttacc aaaggagagg tttagtacac ctgtgctgta gtaagctggt
      661 caattatcta acgccgatta aacatctcag aaagtcattg aaaataatat acctgaatag
      721 tattcaacag ctggaaattc gcaacatgtc ctggccacgt ctgataagaa agcttcgttg
      781 ttacctgaag gagatgaaga atcttcgcaa actcgttttc tccaggtgcc atcattccat
      841 gtcagataat gaactcgaag gacggttagt caccaaattc agctctgtgt tcctcaggct
      901 ggaacacctc cagttgctta aaataaaatt gatcaccttc ttcagtgggc acctggaaca
      961 gctgatcagg tgcctccaga accccttgga gaacttggaa ttaacttatg gctacctatt
     1021 ggaagaagac atgaagtgtc tctcccagta cccaagcctc ggttacctaa agcatctgaa
     1081 tctcagctac gtgctgctgt tccgcatcag tcttgaaccc ctcggagctc tgctagagaa
     1141 aattgctgcc tctctcgaaa ccctcatctt ggagggctgt cagatccact actcccaact
     1201 cagtgccatc ctgcctggcc tgagccactg ctcccagctc accaccttct actttggcag
     1261 aaattgtatg tctatgggtg ccctgaagga cctgttgtgc cacaccagtg ggctgagcaa
     1321 gttaagcctg gagacgtatc ctgcccctga ggagagtttg aattccttgg ttcgtgtcga
     1381 ttgggagatc ttcgccctac ttcgggctga gctgatgtgt acactgaggg aagtcaggca
     1441 gcccaagagg atcttcattg gtcccacccc ctgcccttcc tgtggctcat caccgtctga
     1501 ggaactggag ctccatcttt gctgctaggg aaggcgtgcc tagcggggta gagaaatcca
     1561 aagttctctt ccaggcactg ggacactaaa atctactatg taggtgcaaa ctatttttct
     1621 cttttcttat ttatttcatt ttttaataat tccaaaattt ttattaaaga caatttgaga
     1681 cagggtttct ctgtgttgct ctgggatcct cctgcctcag ctgggcttat gggatcctcc
     1741 tgcctcagct tcctaaagtg ctgggattac tggcatgagt gactgtgtcc aggccacatg
     1801 caacttaaag gaagcacagg gaagtgctca gtgtgaggga aaaaaacata acagcagggg
     1861 gcaaggctgg aggaaaatgt tgaggtgaca tcaatgagaa cttcagggac ccgtgtccta
     1921 cagagtcgga aagagaagct aaagttctac agtgatgaga atgttatccc tgcaaggatg
     1981 gttaccaagg aatatcagaa ataaagagca cctgaatgaa aacttttaac ctgttgtagc
     2041 aatttatcca ccagaaatat ctagttattg agttactgat ggaaaaataa tgaaatacta
     2101 ctttgtctgt gattgagttt cagctgtaga acatcaaagc aaccaaatag aatttgatca
     2161 tttt
//
LOCUS       NM_001024674            2874 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens lin-52 DREAM MuvB core complex component (LIN52),
            transcript variant 1, mRNA.
ACCESSION   NM_001024674
VERSION     NM_001024674.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2874)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2874)
  AUTHORS   Litovchick L, Florens LA, Swanson SK, Washburn MP and DeCaprio JA.
  TITLE     DYRK1A protein kinase promotes quiescence and senescence through
            DREAM complex assembly
  JOURNAL   Genes Dev 25 (8), 801-813 (2011)
   PUBMED   21498570
REFERENCE   3  (bases 1 to 2874)
  AUTHORS   Eriksson N, Macpherson JM, Tung JY, Hon LS, Naughton B, Saxonov S,
            Avey L, Wojcicki A, Pe'er I and Mountain J.
  TITLE     Web-based, participant-driven studies yield novel genetic
            associations for common traits
  JOURNAL   PLoS Genet 6 (6), e1000993 (2010)
   PUBMED   20585627
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2874)
  AUTHORS   Litovchick L, Sadasivam S, Florens L, Zhu X, Swanson SK, Velmurugan
            S, Chen R, Washburn MP, Liu XS and DeCaprio JA.
  TITLE     Evolutionarily conserved multisubunit RBL2/p130 and E2F4 protein
            complex represses human cell cycle-dependent genes in quiescence
  JOURNAL   Mol Cell 26 (4), 539-551 (2007)
   PUBMED   17531812
REFERENCE   5  (bases 1 to 2874)
  AUTHORS   Harrison MM, Ceol CJ, Lu X and Horvitz HR.
  TITLE     Some C. elegans class B synthetic multivulva proteins encode a
            conserved LIN-35 Rb-containing complex distinct from a NuRD-like
            complex
  JOURNAL   Proc Natl Acad Sci U S A 103 (45), 16782-16787 (2006)
   PUBMED   17075059
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK307062.1, SRR11853559.10263.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000555028.7/ ENSP00000451812.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC094003.1, AC006349.3 and AK023979.1.
            On Aug 1, 2019 this sequence version replaced NM_001024674.2.
FEATURES             Location/Qualifiers
     source          1..2874
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..2874
                     /gene="LIN52"
                     /gene_synonym="C14orf46; c14_5549"
                     /note="lin-52 DREAM MuvB core complex component"
                     /db_xref="GeneID:91750"
                     /db_xref="HGNC:HGNC:19856"
     misc_feature    8..10
                     /gene="LIN52"
                     /gene_synonym="C14orf46; c14_5549"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MGWK"
     CDS             20..358
                     /gene="LIN52"
                     /gene_synonym="C14orf46; c14_5549"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein lin-52 homolog"
                     /codon_start=1
                     /product="protein lin-52 homolog isoform 1"
                     /protein_id="NP_001019845.2"
                     /db_xref="CCDS:CCDS32120.2"
                     /db_xref="GeneID:91750"
                     /db_xref="HGNC:HGNC:19856"
                     /translation="MASPTDGTDLEASLLSFEKLDRASPDLWPEQLPGVAEFAASFKSP
                     ITSSPPKWMAEIERDDIDMLKELGSLTTANLMEKVRGLQNLAYQLGLDESREMTRGKFL
                     NILEKPKK"
     regulatory      2596..2601
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIN52"
                     /gene_synonym="C14orf46; c14_5549"
                     /note="hexamer: AATAAA"
     polyA_site      2614
                     /gene="LIN52"
                     /gene_synonym="C14orf46; c14_5549"
                     /note="major polyA site"
     regulatory      2847..2852
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIN52"
                     /gene_synonym="C14orf46; c14_5549"
                     /note="hexamer: AATAAA"
     polyA_site      2874
                     /gene="LIN52"
                     /gene_synonym="C14orf46; c14_5549"
ORIGIN
        1 acgtgacatg ggttggaaga tggcgtctcc cacagacggg acagatctgg aagcatcttt
       61 gctaagtttt gaaaaacttg accgtgcctc accagatctt tggccagaac aattaccagg
      121 tgttgctgaa tttgcagctt ccttcaaaag tcctattact agttctccac ccaaatggat
      181 ggctgagata gaacgtgatg acatcgacat gttgaaagaa ctggggagtc tcaccacggc
      241 taatttgatg gagaaggttc gaggcctaca gaacctagcc tatcagctgg ggctggatga
      301 gtccagagag atgacacggg ggaaattcct caatattcta gagaagccca agaagtagca
      361 gctgcttgcg gacaggatgt cctggggtcc gaaaccaagc tcccttcccg gtgcacctct
      421 aacaatgcac acctcactgc ttgcttggga gaggccagag ggtgtacctc caggactgcc
      481 ctctcccctg ctcctggcac tctacacgtc tgaggacatt cagcagcaag agaagaatct
      541 gctctaccca aggatcattg cagttactca atcaactttc agacttgaac cttcttagcc
      601 tcggatattg gtaacagctg agggcatatc attcttaaag gtcgaagtcc tgctttctca
      661 tttctggaag tgattcagga gccccaggat cttacggttg atttgactca gtcatggcag
      721 tcagttgtga catgttgatt ggatgggttc ttttgaattg ttcttgatct cttagaaagt
      781 gtttacgatg tgaggagacc agagaccaag tagattctgg accagaccat gcagcctgac
      841 ctgtgaactc tccagtatat actaagttcc cagaatcccc agctgaagaa accagaatct
      901 tctcgaaatg tatatctgtt ttttaaaact tctatacctc ttatgatagt cccatttgct
      961 tttcattcct tacttcccag ccccaccttc tagttctgac ttcgggcaga gggatccctg
     1021 agtccctcct ggaattagct tgtatagtga aaggcccatc caaggttgtc taaagaccaa
     1081 tgtgaaggtg acagaaagga cttttgagtt ctaattaatc tgttacagct tcaagcaaga
     1141 aagtcagtat agcctgaaag acaagagaaa cgggatggtt tataggagtt cccatttggt
     1201 tgaaagctag aagccctaat tgaccttaaa gtaacatgct atgggatggt gggattgtcc
     1261 cctctgacag cacatatgaa atagttcatc tatataatag aaacgcacac acacgaaaaa
     1321 gaatcttctg acttaaatac aactttcatg gagttcttca ccacttatct gtctctgtta
     1381 aaatctgaaa atctagccca tggctaaaat ctattatatg tgttctccat atttcttgta
     1441 taagccagtc cccagcatct gatgttttga gaagtgcatg gagtttccta aactttgcac
     1501 aaaagaatat cctggggccg ggcatggtgg ctcacgcctg taatcccagc actttgggag
     1561 gccgaggcag gtggatcata ggtcaaaaga tcgagaccat cctggccaat atggtgaaac
     1621 cctgtctcta ctaaaataca aaaattagct gggcatgatg gtgcatgcct atagtcccag
     1681 ctacttgggg gcctgaggca cgagaatcgc ttgaattcgg gaggtggagg ttgcagtgag
     1741 ccgaaattat gccactgcac tccagcctgg gcaacagagt gagactctgt ctcagaaaaa
     1801 aaaaaaaaaa aaaaaaaaaa aaaagaatat ccctgtggca atagtctgat ggtgtttgga
     1861 cacaagaaaa gttatggttt tgagtcgtga gtgtttgcta gggcatggca ctcttcagtt
     1921 taacagctga tccattaaac cttttctgac atttgtgcct tgttctcatg ctagaattaa
     1981 tgctggattt ttctctcatt tgaccatcaa tgtagtttta cttattgaaa ggaaaaaaga
     2041 cttaacacaa gataggaaag atgagtatga gaagtaaaac attctgctgg ggtgctacat
     2101 agaaggttag gttgtagggg ctttgatttt aatttaaact tattatcgat tgatatttct
     2161 gtatctcact aaatgcggtt gaagagtgtg tgtgtgtgtg tgcgcgcgcg catgtggcca
     2221 aaaaatagtg ccataatgtc aaattcttcc tttgctctgt ttttgagagt tgatgacatc
     2281 aggcactttt cagtgtttgg ggaaattgat tgggatacct cccccaaacc aactcaagtc
     2341 tgtaactgga agccaggtgg ttggttttct ggtccgcttt gtcctctttc ttttaccgtc
     2401 atcctattca ccagcactta atgtaagtag atgttttaga attgcaatat ttattggttt
     2461 agtatttgtc atccttagaa atgttaatga tgtattttta tattgataat ataaatttat
     2521 gtacagtatg tgtgtatatg tatttcagga tgttatagta ttgtactttg tatgtgatgg
     2581 tttttgtgtc ttcataataa atatgtccct tttacaggag ggtgagtttt tcctcagagg
     2641 gccgagttgg atatttaaag cacagacctc cccagaaagt acaactgtaa tgataaataa
     2701 tctactgttt tcccccttaa tatacttaat ggatagttgg gggctttaca gtcatctact
     2761 tggtctcctg ccttccattc tatcctacca ctgcccaaca cccgaaagta gtatttagaa
     2821 acccttaata ccttcccgtg tctactaata aagtctcaat ctcttgaccc ggca
//
LOCUS       NM_001024675            1583 bp    mRNA    linear   PRI 15-FEB-2021
DEFINITION  Homo sapiens actin like 10 (ACTL10), mRNA.
ACCESSION   NM_001024675
VERSION     NM_001024675.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1583)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN,
            Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden
            JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM,
            Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor
            S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh
            VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry
            D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R,
            Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay
            H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce
            CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore
            N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC,
            Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL,
            Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM,
            Bentley DR, Beck S and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC137114.1, DRR138520.599244.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000677665.1/ ENSP00000504425.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC137111.1 and AW006704.1.
            On Nov 22, 2018 this sequence version replaced NM_001024675.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1583
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.22"
     gene            1..1583
                     /gene="ACTL10"
                     /gene_synonym="C20orf134; dJ63M2.2"
                     /note="actin like 10"
                     /db_xref="GeneID:170487"
                     /db_xref="HGNC:HGNC:16127"
     misc_feature    52..54
                     /gene="ACTL10"
                     /gene_synonym="C20orf134; dJ63M2.2"
                     /note="upstream in-frame stop codon"
     CDS             556..1293
                     /gene="ACTL10"
                     /gene_synonym="C20orf134; dJ63M2.2"
                     /note="actin-like protein 10"
                     /codon_start=1
                     /product="actin-like protein 10 precursor"
                     /protein_id="NP_001019846.1"
                     /db_xref="CCDS:CCDS33463.1"
                     /db_xref="GeneID:170487"
                     /db_xref="HGNC:HGNC:16127"
                     /translation="MASTALLALCSTGAFSGLAVEAGAGVCHATPIYAGHSWHQATFRL
                     NVAGSTLSRYLRDLLVAANPDLLQQALPRKAITHLKKRSCYVSLDFEGDLRDPARHHPA
                     SFSVGNGCCVCLSSERFRCPEPIFQPGLLGQAEQGLPALAFRALQKMPKTLRTRLADTV
                     VLAGGSTLFPGFAERLDKELEAQCRRHGYAALRPHLVAKHGRGMAVWTGGSMVASLHSF
                     QRRWITRAMYQECGSRLLYDVFN"
     sig_peptide     556..642
                     /gene="ACTL10"
                     /gene_synonym="C20orf134; dJ63M2.2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      1551..1556
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTL10"
                     /gene_synonym="C20orf134; dJ63M2.2"
                     /note="hexamer: AATAAA"
     polyA_site      1583
                     /gene="ACTL10"
                     /gene_synonym="C20orf134; dJ63M2.2"
                     /note="major polyA site"
ORIGIN
        1 gaagaactta ggctccggag gcagagccaa aggctgaagg ggactactcc ctaggacaga
       61 ggccgggagg tatcgggccg acgaagccga gtggcgcgga ggagcggagc cttcagcccc
      121 gcggctgggc cgagcccgaa ggtggcgtcg gtgtcgggga gccgccgcgt gcaccggccg
      181 tcctccctgg gccgcatcgc ggtggtggtg gaccagggct cgggcttcac caaggcgggc
      241 ttcgcgggcg agaaccagcc gcgcatagtg ctgaagagct ctagcttggt gcccagctgg
      301 gaccggccgg tgctgcccgg agcgccgggc tgcgagctgg cgggcggcgt ggcgcgggcg
      361 caccccatca agcacggcgt ggtggcggac tgggaggcgc tggaagggct gtgggagcgc
      421 ctgctggtgg gcggcctgcg ggtgtgccca gagcagtggc ccgtgctggt gagcgactcg
      481 ccgttggcgc cgcccgcggg ccgcgaaagg gtggcggagc tgctgttcga gaccctggca
      541 gtgcccgcgt gccacatggc tagcaccgcg ttgctggcgc tctgctccac cggcgcgttc
      601 agcgggctgg ccgtggaggc gggcgcgggc gtgtgccacg ccacgcccat ctacgcgggt
      661 cactcgtggc accaggccac cttccgactg aacgtggcag gcagcaccct gtcgcgctac
      721 ctgcgggatc tgctggtggc ggcgaaccct gacctcttgc agcaggccct gccccgcaag
      781 gccatcacac atctcaagaa gcgcagctgc tacgtgtccc tggacttcga gggcgacctc
      841 cgcgaccccg cccgccacca tccggccagt ttcagcgtgg gtaacgggtg ctgcgtctgc
      901 ctcagcagtg agcgcttccg ctgccccgaa cccatcttcc agccgggcct gctgggccag
      961 gctgagcagg ggctgcccgc gctggccttc cgggcgctgc agaagatgcc caaaacgctg
     1021 cggacacgcc tggcagacac cgtggtgcta gccggcggct ccacactgtt tcctggcttc
     1081 gccgagcgcc tggacaagga gctggaggcg cagtgccggc ggcacggcta cgcggccctg
     1141 cggccccacc tggtggccaa gcatgggcgt ggcatggctg tgtggaccgg cggctccatg
     1201 gtggcctccc tgcactcctt ccagcgccgc tggataactc gggccatgta ccaggagtgt
     1261 ggctccaggc tgctgtacga tgtgttcaac tgagtcaggc tggactgggg ggggtggcac
     1321 tgcgttgggg gacagctctc tatctaaaga gtcaagtgtt tggagctggc agggtcctcc
     1381 tggaggttgg agctgactgg atgggtcacc cccataccct ttctgggcca ggagaaggta
     1441 tttgggaccc atgggaccct cattttgaac tgcagtttga atctccccaa ccactgccag
     1501 ttcagagaat gccagtccag ctgcctaccc acagggccct actttatggc aataaaggtg
     1561 atgccccact tgtgtccatg cca
//
LOCUS       NM_001024678            1762 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.
ACCESSION   NM_001024678
VERSION     NM_001024678.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1762)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen AA,
            Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke L,
            Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM, Tiemeier
            H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst FC, Ward ME,
            Wright MJ, Davey Smith G, Deary IJ, Johannesson M, Plomin R,
            Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC111067.1, BX419109.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2152568,
            SAMEA2154125 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000529415.7/ ENSP00000434849.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC084125.9 and BC111067.1.
            On Nov 23, 2018 this sequence version replaced NM_001024678.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1762
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..1762
                     /gene="LRRC24"
                     /gene_synonym="LRRC14OS"
                     /note="leucine rich repeat containing 24"
                     /db_xref="GeneID:441381"
                     /db_xref="HGNC:HGNC:28947"
     misc_feature    113..115
                     /gene="LRRC24"
                     /gene_synonym="LRRC14OS"
                     /note="upstream in-frame stop codon"
     CDS             134..1675
                     /gene="LRRC24"
                     /gene_synonym="LRRC14OS"
                     /note="leucine-rich repeat-containing protein 24"
                     /codon_start=1
                     /product="leucine-rich repeat-containing protein 24
                     precursor"
                     /protein_id="NP_001019849.2"
                     /db_xref="CCDS:CCDS34969.1"
                     /db_xref="GeneID:441381"
                     /db_xref="HGNC:HGNC:28947"
                     /translation="MALRAPALLPLLLLLLPLRAAGCPAACRCYSATVECGALRLRVVP
                     LGIPPGTQTLFLQDNNIARLEPGALAPLAALRRLYLHNNSLRALEAGAFRAQPRLLELA
                     LTSNRLRGLRSGAFVGLAQLRVLYLAGNQLARLLDFTFLHLPRLQELHLQENSIELLED
                     QALAGLSSLALLDLSRNQLGTISREALQPLASLQVLRLTENPWRCDCALHWLGAWIKEG
                     GQRLLTSRDRKIMCAEPPRLALQSLLDVSHSSLICIPPSVHVQPLELTANLGEDLRVAC
                     QASGYPQPLVTWRKVPQPREGRPRAQAQLEGGLLGLGGHSASDTGSGMLFLSNITLAHA
                     GKYECEASNAGGAARVPFRLLVNASRQQPQQPAQPPPPAARPAGSEPRPEAGSMAFRAL
                     GVATQTAIAAAIALLALTALLLVAMICRRRRRRKKARGPPGEGALFVNDYLDGPCTFAQ
                     LEELRDERGHEMFVINRSKPLFAEGPAEAPADCGPEQGAGPGLRVPPPVAYEIHC"
     sig_peptide     134..199
                     /gene="LRRC24"
                     /gene_synonym="LRRC14OS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    284..349
                     /gene="LRRC24"
                     /gene_synonym="LRRC14OS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q50LG9.2);
                     Region: LRR 1"
     misc_feature    356..421
                     /gene="LRRC24"
                     /gene_synonym="LRRC14OS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q50LG9.2);
                     Region: LRR 2"
     misc_feature    428..493
                     /gene="LRRC24"
                     /gene_synonym="LRRC14OS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q50LG9.2);
                     Region: LRR 3"
     misc_feature    500..565
                     /gene="LRRC24"
                     /gene_synonym="LRRC14OS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q50LG9.2);
                     Region: LRR 4"
     misc_feature    572..637
                     /gene="LRRC24"
                     /gene_synonym="LRRC14OS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q50LG9.2);
                     Region: LRR 5"
     misc_feature    644..709
                     /gene="LRRC24"
                     /gene_synonym="LRRC14OS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q50LG9.2);
                     Region: LRR 6"
     misc_feature    1133..1135
                     /gene="LRRC24"
                     /gene_synonym="LRRC14OS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q50LG9.2); glycosylation site"
     misc_feature    1220..1222
                     /gene="LRRC24"
                     /gene_synonym="LRRC14OS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q50LG9.2); glycosylation site"
     misc_feature    1226..1306
                     /gene="LRRC24"
                     /gene_synonym="LRRC14OS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q50LG9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1349..1411
                     /gene="LRRC24"
                     /gene_synonym="LRRC14OS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q50LG9.2);
                     transmembrane region"
     regulatory      1742..1747
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC24"
                     /gene_synonym="LRRC14OS"
                     /note="hexamer: AGTAAA"
     polyA_site      1762
                     /gene="LRRC24"
                     /gene_synonym="LRRC14OS"
                     /note="major polyA site"
ORIGIN
        1 ctcccagccc ggcgactgct cgggcccggc cgccacctgc acggcggggg agccgctcgc
       61 cgcgggagcg tcaggagggc acgcgtctgc ggctgaaccg cggaagggcc ggtgaggaac
      121 cgggcctcgg gagatggccc tgagggcccc cgcactgctg ccgctgctgc tgctactact
      181 gccgctccgc gccgccggct gcccagcagc ctgccgctgc tacagcgcca cggtggagtg
      241 tggcgccctg cggttgcgcg tcgtcccgct gggaatcccg ccagggacgc agacactgtt
      301 cctgcaggac aacaacatcg cccgcctaga gccgggagcc ctggcgccac tcgccgctct
      361 gcgccggctc tacctgcaca acaacagcct gcgcgccctg gaggccggcg ccttccgcgc
      421 gcagccgcgc ctgctggagc tggcgctcac tagcaaccgg ctgcgcggct tgcgcagcgg
      481 cgccttcgta ggcctggccc agctgcgcgt gctctacctg gcgggcaacc agctggcgcg
      541 gctgctggat ttcaccttct tgcacctgcc gcgactgcag gagcttcacc tgcaagaaaa
      601 cagcattgag ctgctggagg accaggctct agcggggctg tcctccctag cactgctgga
      661 cctcagcagg aaccagctgg gcaccatcag ccgagaggcc ctgcagcccc tggccagtct
      721 gcaagtcctg cgcctcacag agaacccatg gcgctgtgac tgcgccctgc actggctggg
      781 tgcctggatc aaggagggcg gccagcggct gctcacctcc agggacagga agatcatgtg
      841 tgcagagccc ccgcgcctgg cgctccagag tctcctggac gtatcccaca gcagcctcat
      901 ctgcattccg ccctctgtcc acgtgcagcc gctggagctc acagccaacc tgggtgagga
      961 cctgcgggtt gcctgccaag cctccggcta cccgcagcca ttggtgacct ggagaaaggt
     1021 gccccagcct cgcgagggcc ggccgcgagc ccaggcccag ctagaaggcg ggttgctggg
     1081 cctgggcgga cactcggcat ccgacacggg cagcggcatg ctcttcctca gcaacatcac
     1141 gctggcgcac gccggtaagt acgagtgcga ggcctccaac gccggcggcg ctgcccgcgt
     1201 gcccttccgg ctcctggtca acgcgtcccg gcagcagccg cagcagcccg cgcaaccgcc
     1261 gcctccggcc gcccgccccg ccggcagcga gccccggccc gaggcgggca gcatggcctt
     1321 ccgcgccctg ggcgtggcca cacagacggc cattgcggcg gccatcgcgc tgctggcgct
     1381 cacggcgctg ctcctggtcg ccatgatctg tcgccggcgc cgcaggcgaa aaaaggcgcg
     1441 ggggcctccg ggggagggag cgctgttcgt caacgactac ttggacggcc cctgtacgtt
     1501 cgcacagcta gaggagctcc gcgacgagcg cggccacgag atgttcgtca tcaaccgctc
     1561 caagccgctc ttcgccgagg gtccggcgga ggcgcccgct gactgcggcc cggaacaggg
     1621 ggcggggccg ggactccgcg tgcccccgcc ggtcgcctac gagatccact gctagggccg
     1681 cgggcgcgcg gatgacgtgg gcgccggaga ttggccggtg cggcctcgcg catgctccgt
     1741 cagtaaaggt ggaagccgcg ca
//
LOCUS       NM_001024679             949 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens KPRP N-terminal and LCE C-terminal like protein
            (KPLCE), mRNA.
ACCESSION   NM_001024679
VERSION     NM_001024679.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 949)
  AUTHORS   Edqvist PH, Fagerberg L, Hallstrom BM, Danielsson A, Edlund K, Uhlen
            M and Ponten F.
  TITLE     Expression of human skin-specific genes defined by transcriptomics
            and antibody-based profiling
  JOURNAL   J Histochem Cytochem 63 (2), 129-141 (2015)
   PUBMED   25411189
REFERENCE   2  (bases 1 to 949)
  AUTHORS   Kumar V, Cheng SC, Johnson MD, Smeekens SP, Wojtowicz A,
            Giamarellos-Bourboulis E, Karjalainen J, Franke L, Withoff S,
            Plantinga TS, van de Veerdonk FL, van der Meer JWM, Joosten LAB,
            Bochud PY, Marchetti O, Perfect JR, Xavier R, Kullberg BJ, Wijmenga
            C and Netea MG.
  TITLE     Immunochip SNP array identifies novel genetic variants conferring
            susceptibility to candidaemia
  JOURNAL   Nat Commun 5, 4675 (2014)
   PUBMED   25197941
  REMARK    GeneRIF: SNPs in C1orf68 are associated with increased risk of
            candidemia. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 949)
  AUTHORS   Ichikawa S, Koller DL, Padgett LR, Lai D, Hui SL, Peacock M, Foroud
            T and Econs MJ.
  TITLE     Replication of previous genome-wide association studies of bone
            mineral density in premenopausal American women
  JOURNAL   J Bone Miner Res 25 (8), 1821-1829 (2010)
   PUBMED   20200978
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 949)
  AUTHORS   Toulza E, Mattiuzzo NR, Galliano MF, Jonca N, Dossat C, Jacob D, de
            Daruvar A, Wincker P, Serre G and Guerrin M.
  TITLE     Large-scale identification of human genes implicated in epidermal
            barrier function
  JOURNAL   Genome Biol 8 (6), R107 (2007)
   PUBMED   17562024
REFERENCE   5  (bases 1 to 949)
  AUTHORS   Marshall D, Hardman MJ, Nield KM and Byrne C.
  TITLE     Differentially expressed late constituents of the epidermal
            cornified envelope
  JOURNAL   Proc Natl Acad Sci U S A 98 (23), 13031-13036 (2001)
   PUBMED   11698679
REFERENCE   6  (bases 1 to 949)
  AUTHORS   Zhao XP and Elder JT.
  TITLE     Positional cloning of novel skin-specific genes from the human
            epidermal differentiation complex
  JOURNAL   Genomics 45 (2), 250-258 (1997)
   PUBMED   9344646
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368775.3/ ENSP00000357764.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL353779.11, CU457096.1 and CU446285.1.
            On May 17, 2019 this sequence version replaced NM_001024679.2.
FEATURES             Location/Qualifiers
     source          1..949
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..949
                     /gene="KPLCE"
                     /gene_synonym="C1orf68; LEP7; XP32"
                     /note="KPRP N-terminal and LCE C-terminal like protein"
                     /db_xref="GeneID:100129271"
                     /db_xref="HGNC:HGNC:29468"
     CDS             1..753
                     /gene="KPLCE"
                     /gene_synonym="C1orf68; LEP7; XP32"
                     /note="skin-specific protein 32; skin-specific protein
                     (xp32)"
                     /codon_start=1
                     /product="protein KPLCE"
                     /protein_id="NP_001019850.1"
                     /db_xref="CCDS:CCDS44226.1"
                     /db_xref="GeneID:100129271"
                     /db_xref="HGNC:HGNC:29468"
                     /translation="MCDQQKQPQFPPSCVKGSGLGAGQGSNGASVKCPVPCQTQTVCVT
                     GPAPCPTQTYVKYQVPCQTQTYVKCPAPCQRTYVKYPTPCQTYVKCPAPCQTTYVKCPT
                     PCQTYVKCPAPCQMTYIKSPAPCQTQTCYVQGASPCQSYYVQAPASGSTSQYCVTDPCS
                     APCSTSYCCLAPRTFGVSPLRRWIQRPQNCNTGSSGCCENSGSSGCCGSGGCGCSCGCG
                     SSGCCCLGIIPMRSRGPACCDHEDDCCC"
ORIGIN
        1 atgtgtgacc agcagaagca gccacagttc cctccatctt gtgtgaaagg ttcgggacta
       61 ggggctgggc agggtagcaa tggtgcctct gtgaaatgcc cagttccatg ccagacccaa
      121 actgtctgtg tgacaggccc tgctccatgc cctactcaaa cttatgtgaa gtaccaagtt
      181 ccatgccaga ctcaaaccta cgtgaagtgc ccagctccct gccagaggac ctatgtgaaa
      241 tacccaacac cctgccaaac ctatgtgaag tgcccagctc cctgccagac aacctatgta
      301 aaatgcccaa ctccctgcca aacctacgtg aagtgcccag ctccctgcca gatgacctac
      361 atcaaaagtc cagctccctg ccagacccag acgtgctatg tccagggtgc ttctccttgc
      421 cagagctatt atgttcaagc tcctgcaagt ggctcaacct cccagtactg tgtcactgac
      481 ccatgctctg ctccctgttc caccagctac tgctgtctgg ctccccggac cttcggggtg
      541 agtcccctga gacgctggat tcagcggccc cagaactgca acacaggatc atctggctgc
      601 tgtgagaatt cgggaagctc tggatgctgt ggttctgggg gctgtggctg cagctgtgga
      661 tgtggcagct ctgggtgctg ctgtttggga attatcccca tgaggtcccg aggtcctgca
      721 tgctgtgacc atgaggatga ctgctgctgc taaacatacg acagctcaac tccagaatgc
      781 actgccccgc taccccttct ggaacatgca ccagcttctg gccccctctc tgttagtgcc
      841 agtgatgtag aacctcatca ctttgcctct gtgctttgct tctctaccaa ggcagcctgc
      901 cagagttagt acagtcccca aactttggca tgaataaagc tctgaatgc
//
LOCUS       NM_001024680            5699 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens F-box protein 48 (FBXO48), transcript variant 1, mRNA.
ACCESSION   NM_001024680
VERSION     NM_001024680.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5699)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 5699)
  AUTHORS   Xiu X, Song Z, Gao K, Deng X, Qi Y, Zhu A, Gong L and Deng H.
  TITLE     Genetic analysis of the FBXO48 gene in Chinese Han patients with
            Parkinson disease
  JOURNAL   Neurosci Lett 541, 224-226 (2013)
   PUBMED   23485738
  REMARK    GeneRIF: mutations in the coding region of the FBXO48 gene play
            little or no role in the development of Parkinson diseases.
REFERENCE   3  (bases 1 to 5699)
  AUTHORS   Patsopoulos NA, Esposito F, Reischl J, Lehr S, Bauer D, Heubach J,
            Sandbrink R, Pohl C, Edan G, Kappos L, Miller D, Montalban J, Polman
            CH, Freedman MS, Hartung HP, Arnason BG, Comi G, Cook S, Filippi M,
            Goodin DS, Jeffery D, O'Connor P, Ebers GC, Langdon D, Reder AT,
            Traboulsee A, Zipp F, Schimrigk S, Hillert J, Bahlo M, Booth DR,
            Broadley S, Brown MA, Browning BL, Browning SR, Butzkueven H,
            Carroll WM, Chapman C, Foote SJ, Griffiths L, Kermode AG, Kilpatrick
            TJ, Lechner-Scott J, Marriott M, Mason D, Moscato P, Heard RN,
            Pender MP, Perreau VM, Perera D, Rubio JP, Scott RJ, Slee M,
            Stankovich J, Stewart GJ, Taylor BV, Tubridy N, Willoughby E, Wiley
            J, Matthews P, Boneschi FM, Compston A, Haines J, Hauser SL,
            McCauley J, Ivinson A, Oksenberg JR, Pericak-Vance M, Sawcer SJ, De
            Jager PL, Hafler DA and de Bakker PI.
  CONSRTM   Bayer Pharma MS Genetics Working Group; Steering Committees of
            Studies Evaluating IFNbeta-1b and a CCR1-Antagonist; ANZgene
            Consortium; GeneMSA; International Multiple Sclerosis Genetics
            Consortium
  TITLE     Genome-wide meta-analysis identifies novel multiple sclerosis
            susceptibility loci
  JOURNAL   Ann Neurol 70 (6), 897-912 (2011)
   PUBMED   22190364
  REMARK    Erratum:[Ann Neurol. 2013 Apr;73(4):561]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.774747.1, BC089423.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000377957.4/ ENSP00000367193.2
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG435927.1, DQ904332.1, DB303415.1 and AC127383.4.
            On Nov 23, 2018 this sequence version replaced NM_001024680.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     gene            1..5699
                     /gene="FBXO48"
                     /note="F-box protein 48"
                     /db_xref="GeneID:554251"
                     /db_xref="HGNC:HGNC:33857"
     misc_feature    439..441
                     /gene="FBXO48"
                     /note="upstream in-frame stop codon"
     CDS             445..912
                     /gene="FBXO48"
                     /codon_start=1
                     /product="F-box only protein 48"
                     /protein_id="NP_001019851.1"
                     /db_xref="CCDS:CCDS33213.1"
                     /db_xref="GeneID:554251"
                     /db_xref="HGNC:HGNC:33857"
                     /translation="MHKNSKRNNNLRVSHTEANSVDAEKEKNESQNNFFELLPAEITFK
                     IFSQLDIRSLCRASLTCRSWNDTIRNSDSLWKPHCMTVRAVCRREIDDDLESGYSWRVI
                     LLRNYQKSKVKHEWLSGRYSNICSPISLPEKIMYPMDADTWGEILEAELER"
     misc_feature    445..525
                     /gene="FBXO48"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5FWF7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      5678..5683
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBXO48"
                     /note="hexamer: AATAAA"
     polyA_site      5699
                     /gene="FBXO48"
                     /note="major polyA site"
ORIGIN
        1 aggtgggcgg gatgcgaaga gctatgggga aggattcgaa ttccggtgga tttaaatcgc
       61 gggaggagaa gctaccgcgg cctaaagacc tctgttgaac acagactgca gttccagcca
      121 ccacagctaa tctggatcat gaatgggagc caccgtggtc ttggcaagtc cgaaaacata
      181 gctgagtagc tcgtctagaa aagagatttg tgttcagctg agttaaaaga agtatttacc
      241 tcaaacctct cctcttgcac aaccaacccc cgttataaaa ggaagtgcaa aatggaataa
      301 actgatttta agtgaataca agctgtcttt atatacaaaa gtaactcaag gatggtgatg
      361 tacccagtca tgctttcaac tgatttggga agcctacacc attcacctta ggttacatat
      421 gaggataact taaaacatta agctatgcat aaaaactcca agagaaacaa taatttaaga
      481 gtttctcaca cagaagcgaa ctctgtggat gctgagaagg aaaaaaatga gagtcaaaac
      541 aacttttttg aactgctgcc tgcagaaatc acttttaaaa ttttcagtca gctggacatt
      601 cggagtctgt gcagggcttc attgacatgc aggagctgga atgacacaat aagaaacagt
      661 gactctttat ggaaacctca ctgcatgact gtaagagctg tgtgccgaag agaaatagat
      721 gatgatctag aaagtggtta ttcctggagg gtgatactgc tgaggaatta ccagaagagt
      781 aaagtgaaac acgaatggct aagtggcaga tacagcaaca tttgttctcc cattagccta
      841 ccagaaaaaa tcatgtaccc aatggatgca gatacatggg gggaaattct agaagcagaa
      901 ctggaaagat aaggggaaaa aaaatcacaa atctcaggtc tttgaaagtt taaaacttaa
      961 atgactctta ggttgcaaaa gcgatatctt tattcgttca ttttgttgtt caccttttta
     1021 aaagaaaatg aaatggaact attataaaag taaagcttta tttttgtttt gcactttagt
     1081 aaaatttttc tggttttatt gtaatgtgga aaaatcatga aatgttattt ttataagaaa
     1141 taatatactg atagagtgat ttccaaatac aatgtttcat gtatttgtgt taatatattt
     1201 gcaatactaa atgtaagagt gatttgtatg ttcagcttaa tgataattca aaatttcagg
     1261 aagccacttt aaactgactt aaagattcat taagtggtgg ttataactag gctcatggga
     1321 agactagcta agtgaaatta atagcaatac atttaaatta atacattgac attttaatga
     1381 ctttaacatt tctatttcag tggaatcaga ttgaaatgtc aaatagtgaa actattttta
     1441 atgtgttaag cctgtggttt agttttaagt taatgtcatc tcagggctaa agtttgtcca
     1501 attgagattc ccattaattt tatataaacc tggaacggct ctcaggagct gaaagtaagt
     1561 ggaaagtttc cagaacactt taccatcaga atgccacact agcctggtaa aactctcttt
     1621 ctgacagcct tatagcacca tctagtgtgc tattcttaga tagcaagaca aaggactttc
     1681 agctcctttt tgttttctcc atattaaaaa gaaaactgtt attctaaaga atccttaaca
     1741 cttgtctttg ttaaagttta taacttttta ggaaccttta ttttaacttt taaaaacttt
     1801 tgtttctctt ttttcataaa aacagattat atgctactca ctataacaaa ttgtttattc
     1861 tgaatctgtg gttaccacca tagtaaaaaa gtgtctacaa actgctttag ttagtgtggg
     1921 gttttcttct taaaaactgt tctctatagc attaaatata agaatccagg aaaccaatat
     1981 ttaacaaata ggcaaatatt agaaagatgc cccactatat gcaaattctg tatgttgaat
     2041 caagcagtag ataattaatt gtctcctact atcttcttag agttggaaga gtccttgaaa
     2101 atcaggcagt caagtgtcca ggactattca gtaattttct caataggaac actgtcagtc
     2161 agccagccca agctgaaatc ctgtacttct actaatagca tctctgttat gtcacagaac
     2221 agtccagttg tagtctaggc ttgcactgaa gaccacctct ctgtaacgtt tgccttctag
     2281 ccccacttcc accctctaga accaggctga ttcagtcctt cctgtctatg attgccagat
     2341 atttgaagac tgatagcctg tctcttccta tgtcttctct ccaattccac tgatgatcat
     2401 agagtataat ttctagaccc aacaacattc tcttctgccc atttactctt aacaaaagaa
     2461 aggggctgtg cgccatggct cacgcctgta atcccagcac tttgggagac caaggtgggt
     2521 ggatcacctc aggtcagaag ttcaagacca gcctggtcaa catggtgaaa ccctgtctct
     2581 actaaatata caaaaattag ccgggcgtgg tggcaggtgc ctgtaatccc agctacttgg
     2641 gaggctgagg caggagaatc gcttaaacct ggcaggcaga ggttgcagtg agcagagatc
     2701 acgccactgc gctccagcct gggcaacaag agtgaaactt cgtctcaaaa aaaaaggaag
     2761 aaagaaaggt atcctactaa ttttatttca taaaagataa gaaagcactt ggaaattttc
     2821 aaagtatggg aaaaattaaa gctataagca ttttgctgaa tagcatctgt gtacaatagt
     2881 aaatgtacac atatattttt agctgttttt ttgtaatgga tgtttattat ttttgtccag
     2941 cccccttaca atctatcatc atcatctgtt aatagaagtt atcctaatta gggagactca
     3001 cccttctcac ttccaaccaa gtgtgtggtt ttttttggcc ggggtggggg gcagtttttt
     3061 gtttttgttt ttttgttttg ttttttgaga tgaagtctca ctctgtcacc caggctggag
     3121 tgcagtggca tgatcttggc ccactgcaac ctccacctcc caggttcaag caactctctg
     3181 tgtcagcctc ccgagcagcc aggattatag gcgcccgcca ccatgcccag ctaatttttg
     3241 tatttttagt agaaacgggg tttcaccatc ttggcctcct gaccttgtga tctacctgcc
     3301 tcagcctcct aaagtgctgg gattataggc atgagccacc gcacccagct gggttttttg
     3361 ttttcttgtt tttttttttt tacattatcc tgtttttccc agcctccgtg tttagtccaa
     3421 ggatggaaac atgacccaat cccccctttt cataagttgg aagaaagaag ccctttcctc
     3481 tttgctgatg aaactgttcc ctgccacaca aagaaaacgg atcttggccg ggcgcggtgg
     3541 ctcacgcctg taatcccagc actttgggag gccgaggcgg gtggatcatg aggtcaggag
     3601 atcgagacca tcctggctaa caaggtgaaa ccccgtctct actaaaaata caaaaaatta
     3661 gccgggcgcg gtggcgggcg cctgtagtcc cagctactcg ggaggctgag gcaggagaat
     3721 ggcgtgaacc cgggaggcgg agcttgcagt gagccgagat tgcgccactg cagtccgcag
     3781 tccggcctgg gcgacagagc gagactccgt ctcaaaaaaa aaaaaaaaaa aaagaaaacg
     3841 aaaacggatc ttaagtaaga gaatgtggag ccaccagggg aaagaacaat tgcagggaaa
     3901 gaggcctgat tatattccag accctggtcc cagccattcc ttatctgctt acctaaatta
     3961 attcaaattg agtttcacca tcatactggg acccccacct gatgtggttt cgttgcccat
     4021 ttttcaaata tgtattattt gtggcttaca ttaacatctt agatttcact ctgacttcct
     4081 caccagtcag tcttaatctg ctataatatg gccatcactc catatggttg aaactgttgg
     4141 tatccaaatt acaagtgact taatgtctaa atccactgga tgcattctac ttgttaatat
     4201 atttgacaca cataaacact cacactgaca cacataagta cttcttaaaa ctctctcctc
     4261 catgggttgg aactatagtc tcttggactt ttctttccct actctaaccc gtcttctcag
     4321 tttcctccaa agactcgctt tccttcacct actcattaca tgttagtgtt cccccaaagt
     4381 tccacctgtt gtcatctcgt ctctatactc taacatcctt ggtgatccca tctacaactc
     4441 ctatgtcagc taccattgtt ggtgctaatg ccgtctatgt ccgtgtccca acatcagatc
     4501 tccatgagat gttccagaaa tacatatgct attatctttt ggatttttat ccaaagatag
     4561 tataagtata tatatatata tataaaatat ttgatatatc caaagatagt ttatatataa
     4621 gcacctgaat caaaacttac catctcataa aagtagttct tcctccagtt cctatctcag
     4681 tgaatggcat gtcctgttag aaaatcacca tattttactt ttctccatca ttctccaagt
     4741 ccagccgagt caattcttac ttgattttat catccaaata tctaagtaat tcacctcttc
     4801 cccatcttta tctctgcctc attacttaat tcttgtcctt atttgacatt gggatttcta
     4861 aaataacctc ttactggtgt tcctgcctcc agttccttcc ttttactgtt agcagtgtag
     4921 tctttgttaa accccaaatt tagcacgtca ccctaactta aactcctgac tgcatacagg
     4981 tagaaatcaa aattccccac taaagcccat agggccttta atgatgtggt ctggcctacc
     5041 tctccagcct gttctctaac cactgtccca ccctatatct ttctgttcag tcttacaaaa
     5101 ctatttcata aaaattttct cacttctctg cctttgcaca ggctgtttga tatacctgga
     5161 gtaatcccca ccattgattc ttttcttggc aaaaatctat tgtaaaactt atcatcttgg
     5221 cctggaaaca atccataact tctactgttc tggattaagt gactttttag atgttcttgt
     5281 agttctttgt atagacctct ctcaaaactg tcatatgaca ttaaattgtc tattttattt
     5341 gtgtgtttgc ccctttacac tgtgaacttc ttaatggcag ggaccatttt ttatttattt
     5401 ttgtgtcttc aaaacctggc acacactaga tgctctataa agatttgtta aattatttct
     5461 atagttattt attttaatcc tacacagaat gtataaaaat aatttactat attgttagtg
     5521 aagaagattg tatcaaaatg cagtatacaa tccttaaggt atgtgggatg cttgatagta
     5581 atacaaatgt atgaataatt gttccagtct tctccaaacc tgtaagaggg aaataggaaa
     5641 ataaaaatgt tttgttttat tgttttgaac tcttgaaaat aaacttaacc tcaaaaata
//
LOCUS       NM_001024736            3295 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.
ACCESSION   NM_001024736
VERSION     NM_001024736.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3295)
  AUTHORS   Fan X, Huang J, Hu B, Zhou J and Chen L.
  TITLE     Tumor-expressed B7-H3 promotes vasculogenic mimicry formation rather
            than angiogenesis in non-small cell lung cancer
  JOURNAL   J Cancer Res Clin Oncol 149 (11), 8729-8741 (2023)
   PUBMED   37129607
  REMARK    GeneRIF: Tumor-expressed B7-H3 promotes vasculogenic mimicry
            formation rather than angiogenesis in non-small cell lung cancer.
REFERENCE   2  (bases 1 to 3295)
  AUTHORS   Xia L, Chen Y, Li J, Wang J, Shen K, Zhao A, Jin H, Zhang G, Xi Q,
            Xia S, Shi T and Li R.
  TITLE     B7-H3 confers stemness characteristics to gastric cancer cells by
            promoting glutathione metabolism through AKT/pAKT/Nrf2 pathway
  JOURNAL   Chin Med J (Engl) 136 (16), 1977-1989 (2023)
   PUBMED   37488673
  REMARK    GeneRIF: B7-H3 confers stemness characteristics to gastric cancer
            cells by promoting glutathione metabolism through AKT/pAKT/Nrf2
            pathway.
REFERENCE   3  (bases 1 to 3295)
  AUTHORS   Mortezaee K.
  TITLE     B7-H3 immunoregulatory roles in cancer
  JOURNAL   Biomed Pharmacother 163, 114890 (2023)
   PUBMED   37196544
  REMARK    GeneRIF: B7-H3 immunoregulatory roles in cancer. Review article
REFERENCE   4  (bases 1 to 3295)
  AUTHORS   Ozaki H, Inoue N, Iwatani Y, Watanabe A, Yamamoto M, Kitahara N,
            Tanikawa S, Noguchi Y, Hidaka Y and Watanabe M.
  TITLE     Association of B7H3 and B7H4 gene polymorphisms and protein
            expression with the development and prognosis of autoimmune thyroid
            diseases
  JOURNAL   Clin Endocrinol (Oxf) 99 (1), 103-112 (2023)
   PUBMED   37066992
  REMARK    GeneRIF: Association of B7H3 and B7H4 gene polymorphisms and protein
            expression with the development and prognosis of autoimmune thyroid
            diseases.
REFERENCE   5  (bases 1 to 3295)
  AUTHORS   Omori S, Muramatsu K, Kawata T, Miyawaki E, Miyawaki T, Mamesaya N,
            Kawamura T, Kobayashi H, Nakashima K, Wakuda K, Ono A, Kenmotsu H,
            Naito T, Murakami H, Sugino T and Takahashi T.
  TITLE     Immunohistochemical analysis of B7-H3 expression in patients with
            lung cancer following various anti-cancer treatments
  JOURNAL   Invest New Drugs 41 (2), 356-364 (2023)
   PUBMED   37036580
  REMARK    GeneRIF: Immunohistochemical analysis of B7-H3 expression in
            patients with lung cancer following various anti-cancer treatments.
REFERENCE   6  (bases 1 to 3295)
  AUTHORS   Steinberger P, Majdic O, Derdak SV, Pfistershammer K, Kirchberger S,
            Klauser C, Zlabinger G, Pickl WF, Stockl J and Knapp W.
  TITLE     Molecular characterization of human 4Ig-B7-H3, a member of the B7
            family with four Ig-like domains
  JOURNAL   J Immunol 172 (4), 2352-2359 (2004)
   PUBMED   14764704
REFERENCE   7  (bases 1 to 3295)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   8  (bases 1 to 3295)
  AUTHORS   Ling V, Wu PW, Spaulding V, Kieleczawa J, Luxenberg D, Carreno BM
            and Collins M.
  TITLE     Duplication of primate and rodent B7-H3 immunoglobulin V- and C-like
            domains: divergent history of functional redundancy and exon loss
  JOURNAL   Genomics 82 (3), 365-377 (2003)
   PUBMED   12906861
REFERENCE   9  (bases 1 to 3295)
  AUTHORS   Sun M, Richards S, Prasad DV, Mai XM, Rudensky A and Dong C.
  TITLE     Characterization of mouse and human B7-H3 genes
  JOURNAL   J Immunol 168 (12), 6294-6297 (2002)
   PUBMED   12055244
  REMARK    GeneRIF: A novel structural variant of B7-H3 (named B7-H3b) with
            four Ig-like domains, is the major isoform expressed in several
            tissues and results from gene duplication and differential splicing.
REFERENCE   10  (bases 1 to 3295)
  AUTHORS   Chapoval AI, Ni J, Lau JS, Wilcox RA, Flies DB, Liu D, Dong H, Sica
            GL, Zhu G, Tamada K and Chen L.
  TITLE     B7-H3: a costimulatory molecule for T cell activation and IFN-gamma
            production
  JOURNAL   Nat Immunol 2 (3), 269-274 (2001)
   PUBMED   11224528
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK075549.1, SRR3476690.986521.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000318443.10/ ENSP00000320084.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC062581.1, AK075549.1 and
            CA420873.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001024736.1.
            Summary: The protein encoded by this gene belongs to the
            immunoglobulin superfamily, and thought to participate in the
            regulation of T-cell-mediated immune response. Studies show that
            while the transcript of this gene is ubiquitously expressed in
            normal tissues and solid tumors, the protein is preferentially
            expressed only in tumor tissues. Additionally, it was observed that
            the 3' UTR of this transcript contains a target site for miR29
            microRNA, and there is an inverse correlation between the
            expression of this protein and miR29 levels, suggesting regulation
            of expression of this gene product by miR29. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Sep 2011].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3295
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     gene            1..3295
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /note="CD276 molecule"
                     /db_xref="GeneID:80381"
                     /db_xref="HGNC:HGNC:19137"
                     /db_xref="MIM:605715"
     misc_feature    31..33
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /note="upstream in-frame stop codon"
     CDS             133..1737
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /note="isoform a precursor is encoded by transcript variant
                     1; CD276 antigen; B7 homolog 3; costimulatory molecule"
                     /codon_start=1
                     /product="CD276 antigen isoform a precursor"
                     /protein_id="NP_001019907.1"
                     /db_xref="CCDS:CCDS32288.1"
                     /db_xref="GeneID:80381"
                     /db_xref="HGNC:HGNC:19137"
                     /db_xref="MIM:605715"
                     /translation="MLRRRGSPGMGVHVGAALGALWFCLTGALEVQVPEDPVVALVGTD
                     ATLCCSFSPEPGFSLAQLNLIWQLTDTKQLVHSFAEGQDQGSAYANRTALFPDLLAQGN
                     ASLRLQRVRVADEGSFTCFVSIRDFGSAAVSLQVAAPYSKPSMTLEPNKDLRPGDTVTI
                     TCSSYQGYPEAEVFWQDGQGVPLTGNVTTSQMANEQGLFDVHSILRVVLGANGTYSCLV
                     RNPVLQQDAHSSVTITPQRSPTGAVEVQVPEDPVVALVGTDATLRCSFSPEPGFSLAQL
                     NLIWQLTDTKQLVHSFTEGRDQGSAYANRTALFPDLLAQGNASLRLQRVRVADEGSFTC
                     FVSIRDFGSAAVSLQVAAPYSKPSMTLEPNKDLRPGDTVTITCSSYRGYPEAEVFWQDG
                     QGVPLTGNVTTSQMANEQGLFDVHSVLRVVLGANGTYSCLVRNPVLQQDAHGSVTITGQ
                     PMTFPPEALWVTVGLSVCLIALLVALAFVCWRKIKQSCEEENAGAEDQDGEGEGSKTAL
                     QPLKHSDSKEDDGQEIA"
     sig_peptide     133..216
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /note="/evidence=ECO:0000269|PubMed:15340161; propagated
                     from UniProtKB/Swiss-Prot (Q5ZPR3.1)"
     mat_peptide     217..1734
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /product="CD276 antigen. /id=PRO_0000045801"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5ZPR3.1)"
     misc_feature    442..444
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5ZPR3.1); glycosylation site"
     misc_feature    697..699
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5ZPR3.1); glycosylation site"
     misc_feature    775..777
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5ZPR3.1); glycosylation site"
     misc_feature    1096..1098
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q5ZPR3.1); glycosylation site"
     misc_feature    1351..1353
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q5ZPR3.1); glycosylation site"
     misc_feature    1429..1431
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5ZPR3.1); glycosylation site"
     misc_feature    1531..1593
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5ZPR3.1);
                     transmembrane region"
     misc_feature    1624..1734
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5ZPR3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1705..1707
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q5ZPR3.1); phosphorylation site"
     regulatory      3276..3281
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /note="hexamer: AATAAA"
     polyA_site      3295
                     /gene="CD276"
                     /gene_synonym="4Ig-B7-H3; B7-H3; B7H3; B7RP-2"
                     /note="major polyA site"
ORIGIN
        1 attcgggccg ggcctcgctg cggcggcgac tgagccaggc tgggccgcgt ccctgagtcc
       61 cagagtcggc gcggcgcggc aggggcagcc ttccaccacg gggagcccag ctgtcagccg
      121 cctcacagga agatgctgcg tcggcggggc agccctggca tgggtgtgca tgtgggtgca
      181 gccctgggag cactgtggtt ctgcctcaca ggagccctgg aggtccaggt ccctgaagac
      241 ccagtggtgg cactggtggg caccgatgcc accctgtgct gctccttctc ccctgagcct
      301 ggcttcagcc tggcacagct caacctcatc tggcagctga cagataccaa acagctggtg
      361 cacagctttg ctgagggcca ggaccagggc agcgcctatg ccaaccgcac ggccctcttc
      421 ccggacctgc tggcacaggg caacgcatcc ctgaggctgc agcgcgtgcg tgtggcggac
      481 gagggcagct tcacctgctt cgtgagcatc cgggatttcg gcagcgctgc cgtcagcctg
      541 caggtggccg ctccctactc gaagcccagc atgaccctgg agcccaacaa ggacctgcgg
      601 ccaggggaca cggtgaccat cacgtgctcc agctaccagg gctaccctga ggctgaggtg
      661 ttctggcagg atgggcaggg tgtgcccctg actggcaacg tgaccacgtc gcagatggcc
      721 aacgagcagg gcttgtttga tgtgcacagc atcctgcggg tggtgctggg tgcaaatggc
      781 acctacagct gcctggtgcg caaccccgtg ctgcagcagg atgcgcacag ctctgtcacc
      841 atcacacccc agagaagccc cacaggagcc gtggaggtcc aggtccctga ggacccggtg
      901 gtggccctag tgggcaccga tgccaccctg cgctgctcct tctcccccga gcctggcttc
      961 agcctggcac agctcaacct catctggcag ctgacagaca ccaaacagct ggtgcacagt
     1021 ttcaccgaag gccgggacca gggcagcgcc tatgccaacc gcacggccct cttcccggac
     1081 ctgctggcac aaggcaatgc atccctgagg ctgcagcgcg tgcgtgtggc ggacgagggc
     1141 agcttcacct gcttcgtgag catccgggat ttcggcagcg ctgccgtcag cctgcaggtg
     1201 gccgctccct actcgaagcc cagcatgacc ctggagccca acaaggacct gcggccaggg
     1261 gacacggtga ccatcacgtg ctccagctac cggggctacc ctgaggctga ggtgttctgg
     1321 caggatgggc agggtgtgcc cctgactggc aacgtgacca cgtcgcagat ggccaacgag
     1381 cagggcttgt ttgatgtgca cagcgtcctg cgggtggtgc tgggtgcgaa tggcacctac
     1441 agctgcctgg tgcgcaaccc cgtgctgcag caggatgcgc acggctctgt caccatcaca
     1501 gggcagccta tgacattccc cccagaggcc ctgtgggtga ccgtggggct gtctgtctgt
     1561 ctcattgcac tgctggtggc cctggctttc gtgtgctgga gaaagatcaa acagagctgt
     1621 gaggaggaga atgcaggagc tgaggaccag gatggggagg gagaaggctc caagacagcc
     1681 ctgcagcctc tgaaacactc tgacagcaaa gaagatgatg gacaagaaat agcctgacca
     1741 tgaggaccag ggagctgcta cccctcccta cagctcctac cctctggctg caatggggct
     1801 gcactgtgag ccctgccccc aacagatgca tcctgctctg acaggtgggc tccttctcca
     1861 aaggatgcga tacacagacc actgtgcagc cttatttctc caatggacat gattcccaag
     1921 tcatcctgct gccttttttc ttatagacac aatgaacaga ccacccacaa ccttagttct
     1981 ctaagtcatc ctgcctgctg ccttatttca cagtacatac atttcttagg gacacagtac
     2041 actgaccaca tcaccaccct cttcttccag tgctgcgtgg accatctggc tgcctttttt
     2101 ctccaaaaga tgcaatattc agactgactg accccctgcc ttatttcacc aaagacacga
     2161 tgcatagtca ccccggcctt gtttctccaa tggccgtgat acactagtga tcatgttcag
     2221 ccctgcttcc acctgcatag aatcttttct tctcagacag ggacagtgcg gcctcaacat
     2281 ctcctggagt ctagaagctg tttcctttcc cctccttcct cctcttgctc tagccttaat
     2341 actggccttt tccctccctg ccccaagtga agacagggca ctctgcgccc accacatgca
     2401 cagctgtgca tggagacctg caggtgcacg tgctggaaca cgtgtggttc ccccctggcc
     2461 cagcctcctc tgcagtgccc ctctcccctg cccatcctcc ccacggaagc atgtgctggt
     2521 cacactggtt ctccaggggt ctgtgatggg gcccctgggg gtcagcttct gtccctctgc
     2581 cttctcacct ctttgttcct ttcttttcat gtatccattc agttgatgtt tattgagcaa
     2641 ctacagatgt cagcactgtg ttaggtgctg ggggccctgc gtgggaagat aaagttcctc
     2701 cctcaaggac tccccatcca gctgggagac agacaactaa ctacactgca ccctgcggtt
     2761 tgcagggggc tcctgcctgg ctccctgctc cacacctcct ctgtggctca aggcttcctg
     2821 gatacctcac ccccatccca cccataattc ttacccagag catggggttg gggcggaaac
     2881 ctggagagag ggacatagcc cctcgccacg gctagagaat ctggtggtgt ccaaaatgtc
     2941 tgtccaggtg tgggcaggtg ggcaggcacc aaggccctct ggacctttca tagcagcaga
     3001 aaaggcagag cctggggcag ggcagggcca ggaatgcttt ggggacaccg aggggactgc
     3061 cccccacccc caccatggtg ctattctggg gctggggcag tcttttcctg gcttgcctct
     3121 ggccagctcc tggcctctgg tagagtgaga cttcagacgt tctgatgcct tccggatgtc
     3181 atctctccct gccccaggaa tggaagatgt gaggacttct aatttaaatg tgggactcgg
     3241 agggattttg taaactgggg gtatattttg gggaaaataa atgtctttgt aaaaa
//
LOCUS       NM_001024807            2370 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens amyloid beta precursor like protein 1 (APLP1),
            transcript variant 1, mRNA.
ACCESSION   NM_001024807
VERSION     NM_001024807.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2370)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2370)
  AUTHORS   Schauenburg L, Liebsch F, Eravci M, Mayer MC, Weise C and Multhaup
            G.
  TITLE     APLP1 is endoproteolytically cleaved by gamma-secretase without
            previous ectodomain shedding
  JOURNAL   Sci Rep 8 (1), 1916 (2018)
   PUBMED   29382944
  REMARK    GeneRIF: The direct cleavage of APLP1 is a novel feature of the
            gamma-secretase. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2370)
  AUTHORS   Dunsing V, Mayer M, Liebsch F, Multhaup G and Chiantia S.
  TITLE     Direct evidence of amyloid precursor-like protein 1 trans
            interactions in cell-cell adhesion platforms investigated via
            fluorescence fluctuation spectroscopy
  JOURNAL   Mol Biol Cell 28 (25), 3609-3620 (2017)
   PUBMED   29021345
  REMARK    GeneRIF: Results provide direct evidence that APLP1 functions as a
            neuronal zinc-dependent adhesion protein and allow a more detailed
            understanding of the molecular mechanisms driving the formation of
            APLP1 adhesion platforms.
REFERENCE   4  (bases 1 to 2370)
  AUTHORS   Zheng LJ, Su YY, Wang YF, Zhong J, Liang X, Zheng G, Lu GM and Zhang
            LJ.
  TITLE     Altered spontaneous brain activity pattern in cognitively normal
            young adults carrying mutations of APP, presenilin-1/2 and APOE
            epsilon4
  JOURNAL   Eur J Radiol 95, 18-23 (2017)
   PUBMED   28987665
  REMARK    GeneRIF: The results show that in cognitively normal young adults
            carrying APlp1 mutations showed different spontaneous brain activity
            patterns without cerebral structural differences.
REFERENCE   5  (bases 1 to 2370)
  AUTHORS   Dahms SO, Mayer MC, Roeser D, Multhaup G and Than ME.
  TITLE     Interaction of the amyloid precursor protein-like protein 1 (APLP1)
            E2 domain with heparan sulfate involves two distinct binding modes
  JOURNAL   Acta Crystallogr D Biol Crystallogr 71 (Pt 3), 494-504 (2015)
   PUBMED   25760599
  REMARK    GeneRIF: These data reveal a conserved mechanism for the binding of
            APP-family proteins to HS and imply a specific regulatory role of HS
            modifications in the biology of APP and APP-like proteins.
REFERENCE   6  (bases 1 to 2370)
  AUTHORS   Paliga K, Peraus G, Kreger S, Durrwang U, Hesse L, Multhaup G,
            Masters CL, Beyreuther K and Weidemann A.
  TITLE     Human amyloid precursor-like protein 1--cDNA cloning, ectopic
            expression in COS-7 cells and identification of soluble forms in the
            cerebrospinal fluid
  JOURNAL   Eur J Biochem 250 (2), 354-363 (1997)
   PUBMED   9428684
REFERENCE   7  (bases 1 to 2370)
  AUTHORS   Bressler SL, Gray MD, Sopher BL, Hu Q, Hearn MG, Pham DG, Dinulos
            MB, Fukuchi K, Sisodia SS, Miller MA, Disteche CM and Martin GM.
  TITLE     cDNA cloning and chromosome mapping of the human Fe65 gene:
            interaction of the conserved cytoplasmic domains of the human
            beta-amyloid precursor protein and its homologues with the mouse
            Fe65 protein
  JOURNAL   Hum Mol Genet 5 (10), 1589-1598 (1996)
   PUBMED   8894693
REFERENCE   8  (bases 1 to 2370)
  AUTHORS   Kim TW, Wu K, Xu JL, McAuliffe G, Tanzi RE, Wasco W and Black IB.
  TITLE     Selective localization of amyloid precursor-like protein 1 in the
            cerebral cortex postsynaptic density
  JOURNAL   Brain Res Mol Brain Res 32 (1), 36-44 (1995)
   PUBMED   7494461
REFERENCE   9  (bases 1 to 2370)
  AUTHORS   Bush AI, Pettingell WH Jr, de Paradis M, Tanzi RE and Wasco W.
  TITLE     The amyloid beta-protein precursor and its mammalian homologues.
            Evidence for a zinc-modulated heparin-binding superfamily
  JOURNAL   J Biol Chem 269 (43), 26618-26621 (1994)
   PUBMED   7929392
REFERENCE   10  (bases 1 to 2370)
  AUTHORS   Wasco W, Brook JD and Tanzi RE.
  TITLE     The amyloid precursor-like protein (APLP) gene maps to the long arm
            of human chromosome 19
  JOURNAL   Genomics 15 (1), 237-239 (1993)
   PUBMED   8432545
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC013850.1, SRR14038191.1239238.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000221891.9/ ENSP00000221891.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC013850.1, BC032983.1 and
            HY304113.1.
            On Nov 30, 2019 this sequence version replaced NM_001024807.2.
            Summary: This gene encodes a member of the highly conserved amyloid
            precursor protein gene family. The encoded protein is a
            membrane-associated glycoprotein that is cleaved by secretases in a
            manner similar to amyloid beta A4 precursor protein cleavage. This
            cleavage liberates an intracellular cytoplasmic fragment that may
            act as a transcriptional activator. The encoded protein may also
            play a role in synaptic maturation during cortical development.
            Alternatively spliced transcript variants encoding different
            isoforms have been described. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2370
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..2370
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="amyloid beta precursor like protein 1"
                     /db_xref="GeneID:333"
                     /db_xref="HGNC:HGNC:597"
                     /db_xref="MIM:104775"
     misc_feature    43..45
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="upstream in-frame stop codon"
     CDS             64..2019
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; amyloid-like protein 1; amyloid precursor-like protein
                     1; amyloid beta (A4) precursor-like protein 1"
                     /codon_start=1
                     /product="amyloid beta precursor like protein 1 isoform 1
                     precursor"
                     /protein_id="NP_001019978.1"
                     /db_xref="CCDS:CCDS32997.1"
                     /db_xref="GeneID:333"
                     /db_xref="HGNC:HGNC:597"
                     /db_xref="MIM:104775"
                     /translation="MGPASPAARGLSRRPGQPPLPLLLPLLLLLLRAQPAIGSLAGGSP
                     GAAEAPGSAQVAGLCGRLTLHRDLRTGRWEPDPQRSRRCLRDPQRVLEYCRQMYPELQI
                     ARVEQATQAIPMERWCGGSRSGSCAHPHHQVVPFRCLPGEFVSEALLVPEGCRFLHQER
                     MDQCESSTRRHQEAQEACSSQGLILHGSGMLLPCGSDRFRGVEYVCCPPPGTPDPSGTA
                     VGDPSTRSWPPGSRVEGAEDEEEEESFPQPVDDYFVEPPQAEEEEETVPPPSSHTLAVV
                     GKVTPTPRPTDGVDIYFGMPGEISEHEGFLRAKMDLEERRMRQINEVMREWAMADNQSK
                     NLPKADRQALNEHFQSILQTLEEQVSGERQRLVETHATRVIALINDQRRAALEGFLAAL
                     QADPPQAERVLLALRRYLRAEQKEQRHTLRHYQHVAAVDPEKAQQMRFQVHTHLQVIEE
                     RVNQSLGLLDQNPHLAQELRPQIQELLHSEHLGPSELEAPAPGGSSEDKGGLQPPDSKD
                     ADTPMTLPKGSTEQDAASPEKEKMNPLEQYERKVNASVPRGFPFHSSEIQRDELAPAGT
                     GVSREAVSGLLIMGAGGGSLIVLSMLLLRRKKPYGAISHGVVEVDPMLTLEEQQLRELQ
                     RHGYENPTYRFLEERP"
     sig_peptide     64..177
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    211..501
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="propagated from UniProtKB/Swiss-Prot (P51693.3);
                     Region: GFLD subdomain.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01217"
     misc_feature    523..699
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="propagated from UniProtKB/Swiss-Prot (P51693.3);
                     Region: CuBD subdomain.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01217"
     misc_feature    703..924
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="propagated from UniProtKB/Swiss-Prot (P51693.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    706..708
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:19838169; propagated from
                     UniProtKB/Swiss-Prot (P51693.3); glycosylation site"
     misc_feature    742..744
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000305|PubMed:19838169; propagated from
                     UniProtKB/Swiss-Prot (P51693.3); glycosylation site"
     misc_feature    745..747
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000305|PubMed:19838169; propagated from
                     UniProtKB/Swiss-Prot (P51693.3); glycosylation site"
     misc_feature    916..978
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="propagated from UniProtKB/Swiss-Prot (P51693.3);
                     Region: O-glycosylated at three sites"
     misc_feature    991..1089
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="propagated from UniProtKB/Swiss-Prot (P51693.3);
                     Region: Heparin-binding. /evidence=ECO:0000250"
     misc_feature    1072..1074
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51693.3); glycosylation site"
     misc_feature    1291..1386
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="propagated from UniProtKB/Swiss-Prot (P51693.3);
                     Region: Heparin-binding. /evidence=ECO:0000250"
     misc_feature    1387..1440
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="propagated from UniProtKB/Swiss-Prot (P51693.3);
                     Region: Collagen-binding. /evidence=ECO:0000250"
     misc_feature    1444..1446
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51693.3); glycosylation site"
     misc_feature    1717..1719
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51693.3); glycosylation site"
     misc_feature    1807..1875
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="propagated from UniProtKB/Swiss-Prot (P51693.3);
                     transmembrane region"
     misc_feature    1876..1911
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="propagated from UniProtKB/Swiss-Prot (P51693.3);
                     Region: Basolateral sorting signal. /evidence=ECO:0000250"
     misc_feature    1924..1929
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="Cleavage, by caspase-3. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (P51693.3); cleavage
                     site"
     mat_peptide     1927..2016
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /product="C30. /evidence=ECO:0000250. /id=PRO_0000000204"
                     /note="propagated from UniProtKB/Swiss-Prot (P51693.3)"
     misc_feature    1960..2013
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="propagated from UniProtKB/Swiss-Prot (P51693.3);
                     Region: Interaction with DAB1. /evidence=ECO:0000250"
     misc_feature    1972..2016
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="propagated from UniProtKB/Swiss-Prot (P51693.3);
                     Region: Interaction with DAB2. /evidence=ECO:0000250"
     misc_feature    1984..1995
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="propagated from UniProtKB/Swiss-Prot (P51693.3);
                     Region: Clathrin-binding. /evidence=ECO:0000255"
     misc_feature    1984..1995
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="propagated from UniProtKB/Swiss-Prot (P51693.3);
                     Region: NPXY motif, contains endocytosis signal"
     regulatory      2349..2354
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="hexamer: AATAAA"
     polyA_site      2370
                     /gene="APLP1"
                     /gene_synonym="APLP"
                     /note="major polyA site"
ORIGIN
        1 ctgtcaccgc tggggccggg ccgggcggga gtgcagggga cgtgagggcg caagggccgg
       61 gacatggggc ccgccagccc cgctgctcgc ggtctaagtc gccgcccggg ccagccgccg
      121 ctgccgctgc tgctgccact attgctgctg cttctgcgcg cgcagcccgc catcgggagc
      181 ctggccggtg ggagccccgg cgcggccgag gccccggggt cggcccaggt ggctggacta
      241 tgcgggcgcc taacccttca ccgggacctg cgcaccggcc gctgggaacc agacccacag
      301 cgctctcgac gctgtctccg ggacccgcag cgcgtgctgg agtactgcag acagatgtac
      361 ccggagctgc agattgcacg tgtggagcag gctacgcagg ccatccccat ggagcgctgg
      421 tgcgggggtt cccggagcgg cagctgcgcc cacccccacc accaggttgt gcccttccgc
      481 tgcctgcctg gtgaatttgt gagtgaggcc ctgctggtgc ctgaaggctg ccggttcttg
      541 caccaggagc gcatggacca atgtgagagt tcaacccgga ggcatcagga ggcacaggag
      601 gcctgcagct cccagggcct catcctgcac ggctcgggca tgctcttacc ctgtggctcg
      661 gatcggttcc gtggtgtgga gtatgtgtgc tgtccccctc cagggacccc cgacccatct
      721 gggacagcag ttggtgaccc ctccacccgg tcctggcccc cggggagcag agtagagggg
      781 gctgaggacg aggaagagga ggaatccttc ccacagccag tagatgatta cttcgtggag
      841 cctccgcagg ctgaagagga agaggaaacg gtcccacccc caagctccca tacacttgca
      901 gtggtcggca aagtcactcc caccccgagg cccacagacg gtgtggatat ttactttggc
      961 atgcctgggg aaatcagtga gcacgagggg ttcctgaggg ccaagatgga cctggaggag
     1021 cgtaggatgc gccagattaa tgaggtgatg cgtgaatggg ccatggcaga caaccagtcc
     1081 aagaacctgc ctaaagccga cagacaggcc ctgaatgagc acttccagtc cattctgcag
     1141 actctggagg agcaggtgtc tggtgagcga cagcgcctgg tggaaaccca cgccacccgc
     1201 gtcatcgccc ttatcaacga ccagcgccgg gctgccttgg agggcttcct ggcagccctg
     1261 caggcagatc cgcctcaggc ggagcgtgtc ctgttggccc tgcggcgcta cctgcgtgcg
     1321 gagcagaagg aacagaggca cacgctgcgc cactaccagc atgtggccgc cgtggatccc
     1381 gagaaggcac agcagatgcg cttccaggtg catacccacc ttcaagtgat tgaggagagg
     1441 gtgaatcaga gcctgggcct gcttgaccag aacccccacc tggctcagga gctgcggccc
     1501 caaatccagg aactcctcca ctctgaacac ctgggtccca gtgaattgga agcccctgcc
     1561 cctgggggca gcagcgagga caagggtggg ctgcagcctc cagattccaa ggatgcagac
     1621 acccccatga cccttccaaa agggtccaca gaacaagatg ctgcatcccc tgagaaagag
     1681 aagatgaacc cgctggaaca gtatgagcga aaggtgaatg cgtctgttcc aaggggtttc
     1741 cctttccact catcggagat tcagagggat gagctggcac cagctgggac aggggtgtcc
     1801 cgtgaggctg tgtcgggtct gctgatcatg ggagcgggcg gaggctccct catcgtcctc
     1861 tccatgctgc tcctgcgcag gaagaagccc tacggggcta tcagccatgg cgtggtggag
     1921 gtggacccca tgctgaccct ggaggagcag cagctccgcg aactgcagcg gcacggctat
     1981 gagaacccca cttaccgctt cctggaggaa cgaccctgac ccggccccct tcaccccttc
     2041 agccgagccc agacctcccc tcttcctgga gccccagaac cccaactccc agcctagggc
     2101 agcagggagt cttgaagtga tcatttcaca cccttttgtg agacggctgg aaattcttat
     2161 ttcccctttc caattccaaa attccatccc taagaattcc cagatagtcc cagcagcctc
     2221 cccacgtggc acctcctcac cttaatttat tttttaagtt tatttatggc tctttaaggt
     2281 gaccgccacc ttggtcctag tgtctattcc ctggaattca ccctctcatg tttccctact
     2341 aacatcccaa taaagtcctc ttccctacca
//
LOCUS       NM_001024808            3722 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens BAF chromatin remodeling complex subunit BCL7A (BCL7A),
            transcript variant 2, mRNA.
ACCESSION   NM_001024808
VERSION     NM_001024808.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3722)
  AUTHORS   Liu J, Gao L, Ji B, Geng R, Chen J, Tao X, Cai Q and Chen Z.
  TITLE     BCL7A as a novel prognostic biomarker for glioma patients
  JOURNAL   J Transl Med 19 (1), 335 (2021)
   PUBMED   34362400
  REMARK    GeneRIF: BCL7A as a novel prognostic biomarker for glioma patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3722)
  AUTHORS   Dai J, Lu L, Kang L and Zhang J.
  TITLE     MiR-501-3p promotes osteosarcoma cell proliferation, migration and
            invasion by targeting BCL7A
  JOURNAL   Hum Cell 34 (2), 624-633 (2021)
   PUBMED   33415690
  REMARK    GeneRIF: MiR-501-3p promotes osteosarcoma cell proliferation,
            migration and invasion by targeting BCL7A.
REFERENCE   3  (bases 1 to 3722)
  AUTHORS   Balinas-Gavira C, Rodriguez MI, Andrades A, Cuadros M, Alvarez-Perez
            JC, Alvarez-Prado AF, de Yebenes VG, Sanchez-Hernandez S,
            Fernandez-Vigo E, Munoz J, Martin F, Ramiro AR, Martinez-Climent JA
            and Medina PP.
  TITLE     Frequent mutations in the amino-terminal domain of BCL7A impair its
            tumor suppressor role in DLBCL
  JOURNAL   Leukemia 34 (10), 2722-2735 (2020)
   PUBMED   32576963
  REMARK    GeneRIF: Frequent mutations in the amino-terminal domain of BCL7A
            impair its tumor suppressor role in DLBCL.
REFERENCE   4  (bases 1 to 3722)
  AUTHORS   Sun Z, Sun L, He M, Pang Y, Yang Z and Wang J.
  TITLE     Low BCL7A expression predicts poor prognosis in ovarian cancer
  JOURNAL   J Ovarian Res 12 (1), 41 (2019)
   PUBMED   31077237
  REMARK    GeneRIF: Survival analysis showed that, compared with those who had
            higher levels of BCL7A expression, patients with ovarian cancer and
            low levels of BCL7A generally had shorter overall/relapse-free
            survival times. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3722)
  AUTHORS   Gatchalian J, Malik S, Ho J, Lee DS, Kelso TWR, Shokhirev MN, Dixon
            JR and Hargreaves DC.
  TITLE     A non-canonical BRD9-containing BAF chromatin remodeling complex
            regulates naive pluripotency in mouse embryonic stem cells
  JOURNAL   Nat Commun 9 (1), 5139 (2018)
   PUBMED   30510198
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3722)
  AUTHORS   Zhang HS, Gavin M, Dahiya A, Postigo AA, Ma D, Luo RX, Harbour JW
            and Dean DC.
  TITLE     Exit from G1 and S phase of the cell cycle is regulated by repressor
            complexes containing HDAC-Rb-hSWI/SNF and Rb-hSWI/SNF
  JOURNAL   Cell 101 (1), 79-89 (2000)
   PUBMED   10778858
REFERENCE   7  (bases 1 to 3722)
  AUTHORS   Phelan ML, Sif S, Narlikar GJ and Kingston RE.
  TITLE     Reconstitution of a core chromatin remodeling complex from SWI/SNF
            subunits
  JOURNAL   Mol Cell 3 (2), 247-253 (1999)
   PUBMED   10078207
REFERENCE   8  (bases 1 to 3722)
  AUTHORS   Jadayel DM, Osborne LR, Coignet LJ, Zani VJ, Tsui LC, Scherer SW and
            Dyer MJ.
  TITLE     The BCL7 gene family: deletion of BCL7B in Williams syndrome
  JOURNAL   Gene 224 (1-2), 35-44 (1998)
   PUBMED   9931421
REFERENCE   9  (bases 1 to 3722)
  AUTHORS   Wang W, Xue Y, Zhou S, Kuo A, Cairns BR and Crabtree GR.
  TITLE     Diversity and specialization of mammalian SWI/SNF complexes
  JOURNAL   Genes Dev 10 (17), 2117-2130 (1996)
   PUBMED   8804307
REFERENCE   10  (bases 1 to 3722)
  AUTHORS   Zani VJ, Asou N, Jadayel D, Heward JM, Shipley J, Nacheva E,
            Takasuki K, Catovsky D and Dyer MJ.
  TITLE     Molecular cloning of complex chromosomal translocation
            t(8;14;12)(q24.1;q32.3;q24.1) in a Burkitt lymphoma cell line
            defines a new gene (BCL7A) with homology to caldesmon
  JOURNAL   Blood 87 (8), 3124-3134 (1996)
   PUBMED   8605326
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.2091741.1,
            SRR7346977.1872706.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000261822.5/ ENSP00000261822.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC069503.25, AK296159.1 and
            AC156455.1.
            On Jun 2, 2019 this sequence version replaced NM_001024808.2.
            Summary: This gene is directly involved, with Myc and IgH, in a
            three-way gene translocation in a Burkitt lymphoma cell line. As a
            result of the gene translocation, the N-terminal region of the gene
            product is disrupted, which is thought to be related to the
            pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma.
            The N-terminal segment involved in the translocation includes the
            region that shares a strong sequence similarity with those of BCL7B
            and BCL7C. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region compared to variant 1. The
            resulting isoform (b) has the same N- and C-termini but is shorter
            compared to isoform a.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3722
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..3722
                     /gene="BCL7A"
                     /gene_synonym="BCL7; SMARCJ1"
                     /note="BAF chromatin remodeling complex subunit BCL7A"
                     /db_xref="GeneID:605"
                     /db_xref="HGNC:HGNC:1004"
                     /db_xref="MIM:601406"
     misc_feature    74..76
                     /gene="BCL7A"
                     /gene_synonym="BCL7; SMARCJ1"
                     /note="upstream in-frame stop codon"
     CDS             209..841
                     /gene="BCL7A"
                     /gene_synonym="BCL7; SMARCJ1"
                     /note="isoform b is encoded by transcript variant 2; B-cell
                     CLL/lymphoma-7; B-cell CLL/lymphoma 7 protein family member
                     A; B-cell CLL/lymphoma 7A; BCL tumor suppressor 7A; BCL7A,
                     BAF complex component"
                     /codon_start=1
                     /product="B-cell CLL/lymphoma 7 protein family member A
                     isoform b"
                     /protein_id="NP_001019979.1"
                     /db_xref="CCDS:CCDS53841.1"
                     /db_xref="GeneID:605"
                     /db_xref="HGNC:HGNC:1004"
                     /db_xref="MIM:601406"
                     /translation="MSGRSVRAETRSRAKDDIKRVMAAIEKVRKWEKKWVTVGDTSLRI
                     YKWVPVTEPKVDDKNKNKKKGKDEKCGSEVTTPENSSSPGMMDMHDDNSNQSSIADASP
                     IKQENSSNSSPAPEPNSAVPSDGTEAKVDEAQADGKEHPGAEDASDEQNSQSSMEHSMN
                     SSEKVDRQPSGDSGLAAETSAISQDLEGVPPSKKMKLEASQQNSEEM"
     misc_feature    350..838
                     /gene="BCL7A"
                     /gene_synonym="BCL7; SMARCJ1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4VC05.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    815..817
                     /gene="BCL7A"
                     /gene_synonym="BCL7; SMARCJ1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (Q4VC05.1); phosphorylation site"
     misc_feature    827..829
                     /gene="BCL7A"
                     /gene_synonym="BCL7; SMARCJ1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (Q4VC05.1); phosphorylation site"
     regulatory      2230..2235
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL7A"
                     /gene_synonym="BCL7; SMARCJ1"
                     /note="hexamer: AATATA"
     polyA_site      2255
                     /gene="BCL7A"
                     /gene_synonym="BCL7; SMARCJ1"
     regulatory      3701..3706
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL7A"
                     /gene_synonym="BCL7; SMARCJ1"
                     /note="hexamer: AATAAA"
     polyA_site      3722
                     /gene="BCL7A"
                     /gene_synonym="BCL7; SMARCJ1"
                     /note="major polyA site"
ORIGIN
        1 gcactgggcc aggcgcgcgg cggccccggg ctttgtgtgt gtgtgtatgt gtgtgtgtgt
       61 gtgtgtgtgt gtgtgagtgt gtgcgtgtga gagtgcgagt gtctgtgcgc gagtgagtga
      121 gcggcgggcg ggcgcgagtg tggccgccgc ggagcgcgag caggacccgg cgggcgcgct
      181 ccccagcctc cgtctccccg ccggaaccat gtcgggcagg tcggttcgag ccgagacgag
      241 gagccgggcc aaagatgata tcaagagggt catggcggcg atcgagaaag tgcgcaaatg
      301 ggagaagaaa tgggtgaccg ttggtgacac atccctacga atctacaaat gggtccctgt
      361 gacggagccc aaggttgatg acaaaaacaa gaataagaaa aaaggcaagg acgagaagtg
      421 tggctcagag gtgaccactc cggagaacag ttcctcccca gggatgatgg acatgcatga
      481 cgataacagc aaccagagct ccatcgcaga tgcctccccc atcaaacagg agaacagcag
      541 caactccagc cccgctccag agcccaactc ggctgtgccc agcgacggca ccgaggccaa
      601 ggtggatgag gcccaggctg atgggaagga gcacccagga gctgaagatg cttctgatga
      661 gcagaattca cagtcctcga tggaacattc gatgaacagc tcagagaaag tagatcggca
      721 gccgtctgga gactcgggtc tggccgcaga gacgtctgca atctctcagg atttggaagg
      781 agtgccaccc tctaaaaaga tgaaactgga ggcctctcaa caaaactccg aagagatgta
      841 gacgatgctt taaagcctcc gatccatgtt ccatggaagg tacatcagca attaattcta
      901 gagcaacttt gccccagcga ttcctcttgg gtgcgaacag aactactaac gtttcaagtt
      961 taccaagtgc aaatccaaga agacccagaa cggcgtcact tctcagacac tgaagaactc
     1021 tgctgtgaag caaaacactc aaacctttaa gggactgtcc ttggggaggc aggcggggct
     1081 gacagctcag gagtgtctgc acactgtctc ggaagccagg attccatttg tgttgctgct
     1141 gtattttccc cccacttctc tatgtaacga tataagctat cggagggtgg taccgatcag
     1201 gaacgctttt tggcggggct ttccactgtt caaccgattc cttccgcttt ctttttttgt
     1261 gccttgtgcc cttgaggtga cctctggcat gtatcctggt ggttcttaca tccccctctg
     1321 caaagtgccc tcttggtttg gttcgggcgg cggctgccac cctactcacc gctctcctcc
     1381 ctgccccagg acttcatcgg agcaggcagg gtggagcgaa ggagctcctt agcccacctg
     1441 gtttgcaggt gcagggggac cttaggcacg ccccaagcac caggcaccag ggcccaagga
     1501 cgcgcaggtg ttggggcaca gtccccaagg gctcggcccc ttggatcagg ctgggcactc
     1561 gctgtgctct cccctccttg gggcgtttag gactgggcgt ctccaagccc accatggccc
     1621 agatggacgt gcaaagccct tggaattttc tggcacttcc tctctattgc ccccaccacc
     1681 accaccccca tcactgcttt ctcccagacc tccgaatacg aaatggcttc tctggctgac
     1741 tgcaaggctg tctccttaag gcactgagtg ggccggggag gctgggagcc ggcggcagga
     1801 ttagctggtg ctgaactttc tctcatagga cgtcgcttgg atttcaaatc cacggtcacc
     1861 tgctgccctt tgcctccccc gacgccccag cctgtgcccc ggagaggcag gatcgcagtg
     1921 gtcagaatcc acgtgctttc ctattctcag gctgttctga ctctgagcca acagctggac
     1981 cgtgtctcat ccccagaaca tgccgtctgt ccccaccggg gagtgggcct tgatggccgg
     2041 gcctcgaagg ccacaaacaa ggcgtcgagg aattggaaag atttgcacac cctccagaaa
     2101 ggagagacgc aatctcccct ccctcccatc ccccaccttc gctggaacag cttcctctca
     2161 ctgaacggag acgccccctt ggacgaactg cctaatcgtt tggttctgag gcctggtttg
     2221 ctcttaatta atatatgaac tcctcagacc ttaaaccttt tcctaagctt tctttactgc
     2281 actggagttc tgactccctt tgagttgtgt gttactgggg gtggggtggg gtcatgggtt
     2341 ttgttgtttt tgggggctaa ttggtgcata ttcaggtacc acctttgacg tgtggctctt
     2401 tctcctgacc atcatgggaa gtgtctgctg gattccattt tctaagagtt tctgagggtg
     2461 aggctcttat tttttttttt aagggatcct gtctatttcc tgcacttcga gaagaatcaa
     2521 aatgttcctg aatttcaaat acctcatgca aaatgtctcc tgaaataagg gaaaaaaaaa
     2581 aaaccacaac tttgaaaatc ttaatgttga agttagcaat gccgaaaggt ttctgtctta
     2641 aaaaaaaaaa tccttgtact tatcaatttt gccccttagg cagtcagttt tgttgagaac
     2701 tgtgtcctgc atcctggcgc agaacctacc tgatgcggtt cctctccacg catctcgagg
     2761 cggcgttacc tccagattcc gtagagttag agtcacattt ttctttgcag cgaaactcca
     2821 tcttggtgag agatgaattt ggatatttat ttccttctct gtttttggga aacgagaggc
     2881 tacaaccaag acagctgaag gagaatgaaa cacacacatc cacagaaaca gagaggcgta
     2941 ggtggccctg ccgttgaccg cagcctctct ggacaggcaa ggggagttgg cgcaggtgag
     3001 gactcagacg acgtccaccg tcccaaggct gtcactagta tttctctgaa gtgcctgaag
     3061 gtaggaatgg gccggcgatt gggaccagct gggccccacc acggccacgc caggcaaagc
     3121 gccagcagcc ctgcactcca cgctggccaa gaaggccttc cacgcagaat gacaagactg
     3181 caaaaatccg atgtgcttcc ttccctggcg cagtcgctcc tcgagccgct gccccccacc
     3241 caccctgcac ccctcgccct ccccccacca cagaatctaa gacctttcag cttcgagcca
     3301 gggggcgggg gatcccgagc aaaagccttc cgtggacatc aggccccgtg gcctcaaggg
     3361 ctcccagggc aaacctaatt ccccccaaaa cgtgaagtcg gggaagctgc ggctacacat
     3421 tccacaaagt gctggcactt acacccacaa cccggaaggc tgtggaccga ttcctctagg
     3481 gtggtgacct cccattagca aacggtgtca tggtttggaa tgttcattat cgccaagaac
     3541 ctggttagag gcataaagac cttttttcac cgttacctaa ttttttcccc tttcaagaat
     3601 tttttttttt tttggtgtgt tgtacagcag tataattttt cacttattta ttccatcagt
     3661 agatatggtt tgtacaatgt acaattgttt catttcagaa aataaaaatt tcaaatcatg
     3721 aa
//
LOCUS       NM_001024822             807 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens ribonuclease A family member 12 (inactive) (RNASE12),
            mRNA.
ACCESSION   NM_001024822
VERSION     NM_001024822.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 807)
  AUTHORS   Premzl M.
  TITLE     Comparative genomic analysis of eutherian ribonuclease A genes
  JOURNAL   Mol Genet Genomics 289 (2), 161-167 (2014)
   PUBMED   24337645
REFERENCE   2  (bases 1 to 807)
  AUTHORS   Cho S, Beintema JJ and Zhang J.
  TITLE     The ribonuclease A superfamily of mammals and birds: identifying new
            members and tracing evolutionary histories
  JOURNAL   Genomics 85 (2), 208-220 (2005)
   PUBMED   15676279
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.197774.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2162568
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000696784.1/ ENSP00000512867.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL163195.5.
            On Jul 29, 2021 this sequence version replaced NM_001024822.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..807
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..807
                     /gene="RNASE12"
                     /gene_synonym="HEL-S-85p; RAI1"
                     /note="ribonuclease A family member 12 (inactive)"
                     /db_xref="GeneID:493901"
                     /db_xref="HGNC:HGNC:24211"
     misc_feature    85..87
                     /gene="RNASE12"
                     /gene_synonym="HEL-S-85p; RAI1"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MLPVTVTRKMTAVKAKDAKSLLPL"
     misc_feature    112..114
                     /gene="RNASE12"
                     /gene_synonym="HEL-S-85p; RAI1"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MTAVKAKDAKSLLPL"
     CDS             157..600
                     /gene="RNASE12"
                     /gene_synonym="HEL-S-85p; RAI1"
                     /note="ribonuclease-like protein 12; probable inactive
                     ribonuclease-like protein 12; ribonuclease, RNase A family,
                     12 (non-active); epididymis secretory sperm binding protein
                     Li 85p; ribonuclease A I1"
                     /codon_start=1
                     /product="probable inactive ribonuclease-like protein 12
                     precursor"
                     /protein_id="NP_001019993.1"
                     /db_xref="CCDS:CCDS32037.1"
                     /db_xref="GeneID:493901"
                     /db_xref="HGNC:HGNC:24211"
                     /translation="MIIMVIIFLVLLFWENEVNDEAVMSTLEHLHVDYPQNDVPVPARY
                     CNHMIIQRVIREPDHTCKKEHVFIHERPRKINGICISPKKVACQNLSAIFCFQSETKFK
                     MTVCQLIEGTRYPACRYHYSPTEGFVLVTCDDLRPDSFLGYVK"
     sig_peptide     157..216
                     /gene="RNASE12"
                     /gene_synonym="HEL-S-85p; RAI1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
ORIGIN
        1 acattcaaca acaggctctc tatcagttat tgtcagggaa cagcaagaca caagcgattt
       61 tgtcaaattc atgatcaaaa ggctatgtta cctgtgacag tgaccagaaa aatgacagca
      121 gtcaaagcca aagatgcgaa gtcactctta cctctgatga taataatggt gataattttc
      181 ttggtgcttc tgttctggga aaatgaggtg aatgatgaag cagtgatgtc aactttagaa
      241 cacttgcatg tggactaccc tcagaatgac gttcccgttc ctgcaaggta ctgcaaccac
      301 atgatcatac aaagagttat cagggaacct gaccacactt gtaaaaagga gcatgtcttc
      361 atccatgaga ggcctcgaaa aatcaatggt atttgcattt ctcccaagaa ggttgcttgc
      421 caaaaccttt cggccatttt ctgctttcag agtgagacaa agttcaaaat gacagtctgt
      481 cagctcattg aaggcacaag ataccctgcc tgcaggtacc actattcccc cacagagggg
      541 tttgttcttg tcacttgtga tgacttgagg ccagatagtt tccttggcta tgttaaataa
      601 ctcaagatca gctcccgagt ctgagatctc ttctctcaat ggcattggag ctggctgtgc
      661 ctgaggcaga cctggaccgt ggacatgggg caatgccttg agcggaaggg gaagccactg
      721 gtaattaatt tatccttcct gtattgctgg gttgggattg ttttattctg cttcaataaa
      781 ataatcttta ctgaattaaa ccataaa
//
LOCUS       NM_001024845            3206 bp    mRNA    linear   PRI 02-MAY-2023
DEFINITION  Homo sapiens solute carrier family 6 member 9 (SLC6A9), transcript
            variant 3, mRNA.
ACCESSION   NM_001024845
VERSION     NM_001024845.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3206)
  AUTHORS   Piniella D and Zafra F.
  TITLE     Functional crosstalk of the glycine transporter GlyT1 and NMDA
            receptors
  JOURNAL   Neuropharmacology 232, 109514 (2023)
   PUBMED   37003571
  REMARK    GeneRIF: Functional crosstalk of the glycine transporter GlyT1 and
            NMDA receptors. Review article
REFERENCE   2  (bases 1 to 3206)
  AUTHORS   Zhang YW, Uchendu S, Leone V, Bradshaw RT, Sangwa N, Forrest LR and
            Rudnick G.
  TITLE     Chloride-dependent conformational changes in the GlyT1 glycine
            transporter
  JOURNAL   Proc Natl Acad Sci U S A 118 (10) (2021)
   PUBMED   33658361
  REMARK    GeneRIF: Chloride-dependent conformational changes in the GlyT1
            glycine transporter.
REFERENCE   3  (bases 1 to 3206)
  AUTHORS   Shahsavar A, Stohler P, Bourenkov G, Zimmermann I, Siegrist M, Guba
            W, Pinard E, Sinning S, Seeger MA, Schneider TR, Dawson RJP and
            Nissen P.
  TITLE     Structural insights into the inhibition of glycine reuptake
  JOURNAL   Nature 591 (7851), 677-681 (2021)
   PUBMED   33658720
  REMARK    GeneRIF: Structural insights into the inhibition of glycine
            reuptake.
REFERENCE   4  (bases 1 to 3206)
  AUTHORS   Mademont-Soler I, Casellas-Vidal D, Trujillo A, Espuna-Capote N,
            Maroto A, Garcia-Gonzalez MDM, Ruiz MD, Diego-Alvarez D, Queralt X,
            Perapoch J and Obon M.
  TITLE     GLYT1 encephalopathy: Further delineation of disease phenotype and
            discussion of pathophysiological mechanisms
  JOURNAL   Am J Med Genet A 185 (2), 476-485 (2021)
   PUBMED   33269555
  REMARK    GeneRIF: GLYT1 encephalopathy: Further delineation of disease
            phenotype and discussion of pathophysiological mechanisms.
REFERENCE   5  (bases 1 to 3206)
  AUTHORS   Curtis D.
  TITLE     Do damaging variants of SLC6A9, the gene for the glycine transporter
            1 (GlyT-1), protect against schizophrenia?
  JOURNAL   Psychiatr Genet 30 (5), 150-152 (2020)
   PUBMED   32796235
  REMARK    GeneRIF: Do damaging variants of SLC6A9, the gene for the glycine
            transporter 1 (GlyT-1), protect against schizophrenia?
REFERENCE   6  (bases 1 to 3206)
  AUTHORS   Olivares L, Aragon C, Gimenez C and Zafra F.
  TITLE     The role of N-glycosylation in the targeting and activity of the
            GLYT1 glycine transporter
  JOURNAL   J Biol Chem 270 (16), 9437-9442 (1995)
   PUBMED   7721869
REFERENCE   7  (bases 1 to 3206)
  AUTHORS   Jones EM, Fernald A, Bell GI and Le Beau MM.
  TITLE     Assignment of SLC6A9 to human chromosome band 1p33 by in situ
            hybridization
  JOURNAL   Cytogenet Cell Genet 71 (3), 211 (1995)
   PUBMED   7587377
REFERENCE   8  (bases 1 to 3206)
  AUTHORS   Kim KM, Kingsmore SF, Han H, Yang-Feng TL, Godinot N, Seldin MF,
            Caron MG and Giros B.
  TITLE     Cloning of the human glycine transporter type 1: molecular and
            pharmacological characterization of novel isoform variants and
            chromosomal localization of the gene in the human and mouse genomes
  JOURNAL   Mol Pharmacol 45 (4), 608-617 (1994)
   PUBMED   8183239
REFERENCE   9  (bases 1 to 3206)
  AUTHORS   Borowsky B, Mezey E and Hoffman BJ.
  TITLE     Two glycine transporter variants with distinct localization in the
            CNS and peripheral tissues are encoded by a common gene
  JOURNAL   Neuron 10 (5), 851-863 (1993)
   PUBMED   8494645
REFERENCE   10  (bases 1 to 3206)
  AUTHORS   Kurolap,A., Hershkovitz,T. and Baris,H.N.
  TITLE     GLYT1 Encephalopathy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   29190063
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.29189.1,
            SRR1803616.166028.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000372310.8/ ENSP00000361384.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN354684.1, S70609.1,
            AI884725.1 and AL139220.13.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001024845.2.
            Summary: The amino acid glycine acts as an inhibitory
            neurotransmitter in the central nervous system. The protein encoded
            by this gene is one of two transporters that stop glycine signaling
            by removing it from the synaptic cleft. [provided by RefSeq, Jun
            2016].
            Transcript Variant: This variant (3) differs in the 5' UTR and
            coding region compared to variant 2. The resulting isoform (3) is
            shorter and has a distinct N-terminus compared to isoform 2.
            Variants 3 and 9 both encode the same isoform (3).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3206
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..3206
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /note="solute carrier family 6 member 9"
                     /db_xref="GeneID:6536"
                     /db_xref="HGNC:HGNC:11056"
                     /db_xref="MIM:601019"
     misc_feature    201..203
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /note="upstream in-frame stop codon"
     CDS             243..2144
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /note="isoform 3 is encoded by transcript variant 3;
                     sodium- and chloride-dependent glycine transporter 1;
                     glyT-1; solute carrier family 6 (neurotransmitter
                     transporter, glycine), member 9"
                     /codon_start=1
                     /product="sodium- and chloride-dependent glycine
                     transporter 1 isoform 3"
                     /protein_id="NP_001020016.1"
                     /db_xref="CCDS:CCDS30695.1"
                     /db_xref="GeneID:6536"
                     /db_xref="HGNC:HGNC:11056"
                     /db_xref="MIM:601019"
                     /translation="MVGKGAKGMLNGAVPSEATKRDQNLKRGNWGNQIEFVLTSVGYAV
                     GLGNVWRFPYLCYRNGGGAFMFPYFIMLIFCGIPLFFMELSFGQFASQGCLGVWRISPM
                     FKGVGYGMMVVSTYIGIYYNVVICIAFYYFFSSMTHVLPWAYCNNPWNTHDCAGVLDAS
                     NLTNGSRPAALPSNLSHLLNHSLQRTSPSEEYWRLYVLKLSDDIGNFGEVRLPLLGCLG
                     VSWLVVFLCLIRGVKSSGKVVYFTATFPYVVLTILFVRGVTLEGAFDGIMYYLTPQWDK
                     ILEAKVWGDAASQIFYSLGCAWGGLITMASYNKFHNNCYRDSVIISITNCATSVYAGFV
                     IFSILGFMANHLGVDVSRVADHGPGLAFVAYPEALTLLPISPLWSLLFFFMLILLGLGT
                     QFCLLETLVTAIVDEVGNEWILQKKTYVTLGVAVAGFLLGIPLTSQAGIYWLLLMDNYA
                     ASFSLVVISCIMCVAIMYIYGHRNYFQDIQMMLGFPPPLFFQICWRFVSPAIIFFILVF
                     TVIQYQPITYNHYQYPGWAVAIGFLMALSSVLCIPLYAMFRLCRTDGDTLLQRLKNATK
                     PSRDWGPALLEHRTGRYAPTIAPSPEDGFEVQPLHPDKAQIPIVGSNGSSRLQDSRI"
     regulatory      3181..3186
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /note="hexamer: AATGAA"
     polyA_site      3206
                     /gene="SLC6A9"
                     /gene_synonym="GCENSG; GLYT1"
                     /note="major polyA site"
ORIGIN
        1 acaacaggct gtggaagagc tgcgagcggc gcggcggggc gggcgaactc ggcgcggcac
       61 agagcctcgg gaggctgatg caactttccc tttaagaaag ccacctgggc gcaccgcggt
      121 gcggacccag cacgcctggg ccgggggctg cagcatgctc ttgagatctg tggcctgaaa
      181 ggcgctggaa gcagagcctg tgagtgtggt ccccgtcacc agagccccaa cccaccgccg
      241 ccatggtagg aaaaggtgcc aaagggatgc tgaatggtgc tgtgcccagc gaggccacca
      301 agagggacca gaacctcaaa cggggcaact ggggcaacca gatcgagttt gtactgacga
      361 gcgtgggcta tgccgtgggc ctgggcaatg tctggcgctt cccatacctc tgctatcgca
      421 acgggggagg cgccttcatg ttcccctact tcatcatgct catcttctgc gggatccccc
      481 tcttcttcat ggagctctcc ttcggccagt ttgcaagcca ggggtgcctg ggggtctgga
      541 ggatcagccc catgttcaaa ggagtgggct atggtatgat ggtggtgtcc acctacatcg
      601 gcatctacta caatgtggtc atctgcatcg ccttctacta cttcttctcg tccatgacgc
      661 acgtgctgcc ctgggcctac tgcaataacc cctggaacac gcatgactgc gccggtgtac
      721 tggacgcctc caacctcacc aatggctctc ggccagccgc cttgcccagc aacctctccc
      781 acctgctcaa ccacagcctc cagaggacca gccccagcga ggagtactgg aggctgtacg
      841 tgctgaagct gtcagatgac attgggaact ttggggaggt gcggctgccc ctccttggct
      901 gcctcggtgt ctcctggttg gtcgtcttcc tctgcctcat ccgaggggtc aagtcttcag
      961 ggaaagtggt gtacttcacg gccacgttcc cctacgtggt gctgaccatt ctgtttgtcc
     1021 gcggagtgac cctggaggga gcctttgacg gcatcatgta ctacctaacc ccgcagtggg
     1081 acaagatcct ggaggccaag gtgtggggtg atgctgcctc ccagatcttc tactcactgg
     1141 gctgcgcgtg gggaggcctc atcaccatgg cttcctacaa caagttccac aataactgtt
     1201 accgggacag tgtcatcatc agcatcacca actgtgccac cagcgtctat gctggcttcg
     1261 tcatcttctc catcctcggc ttcatggcca atcacctggg cgtggatgtg tcccgtgtgg
     1321 cagaccacgg ccctggcctg gccttcgtgg cttaccccga ggccctcaca ctacttccca
     1381 tctccccgct gtggtctctg ctcttcttct tcatgcttat cctgctgggg ctgggcactc
     1441 agttctgcct cctggagacg ctggtcacag ccattgtgga tgaggtgggg aatgagtgga
     1501 tcctgcagaa aaagacctat gtgaccttgg gcgtggctgt ggctggcttc ctgctgggca
     1561 tccccctcac cagccaggca ggcatctatt ggctgctgct gatggacaac tatgcggcca
     1621 gcttctcctt ggtggtcatc tcctgcatca tgtgtgtggc catcatgtac atctacgggc
     1681 accggaacta cttccaggac atccagatga tgctgggatt cccaccaccc ctcttctttc
     1741 agatctgctg gcgcttcgtc tctcccgcca tcatcttctt tattctagtt ttcactgtga
     1801 tccagtacca gccgatcacc tacaaccact accagtaccc aggctgggcc gtggccattg
     1861 gcttcctcat ggctctgtcc tccgtcctct gcatccccct ctacgccatg ttccggctct
     1921 gccgcacaga cggggacacc ctcctccagc gtttgaaaaa tgccacaaag ccaagcagag
     1981 actggggccc tgccctcctg gagcaccgga cagggcgcta cgcccccacc atagccccct
     2041 ctcctgagga cggcttcgag gtccagccac tgcacccgga caaggcgcag atccccattg
     2101 tgggcagtaa tggctccagc cgcctccagg actcccggat atgagcacag ctgccagggg
     2161 agtggcccca cccccacccc gtgctcccac cgcagagact ggtgaggcag aggccaggtg
     2221 tctctgcctg ccccctgcca cgccctggcc aggacggctg ctgtcacctt ggtcaccact
     2281 gctagtgcag tcattcatgc tcatgtcccc agtgtttaca tgtcctttgg atgccaagat
     2341 agcagctggg gggaggggtg ggagtggagg gttgctggga ggtccaaagc actttggagg
     2401 ggtctcgggc caggtcccca gcagcctgga tggctttacg tggcctccga tacccttata
     2461 ccctgccctg agctgaggtt ctgggtgggc ctccagcccc atgactagtg ctcctgccct
     2521 cagagccgac cccagcctct gccaggcaca tttggctatt cctccctagg ggcaggatga
     2581 agggctgggg gactgcccag tgttacttgt caggctgtgc tgcccagccc tgtttatctg
     2641 tgtaattatt tttgtaaaca ttgtattctc tgtggtcgcc acctcctcgc ccccagcctc
     2701 gggttcagtc tgtcttccag gcctgcttgc acctcactgg gctgctccgg ggtctctgcc
     2761 cctcattcca ggcctggctg tcaggcccag ccagcagggg cccgtgaccc agcagcctgc
     2821 ccaaagcatt tgtttctggg ggatggggtg ggggctgctc cacaggaggt ttgagcccag
     2881 caccctgggg aaggggaccc tgcacgacac ccccttgccc tccctccatg aggctaaagg
     2941 cccagtcttc ccaaatgtgc tgccctcgtt catgtgccaa atggccccag cccacatgcc
     3001 cctcccctct ctggagtggg agccccttct gaagtgtctg aatccctgaa gtgttcattt
     3061 gtccgtcctc tgtgcagtga cagccccggc caagccacct ctaatcctct gtagcaataa
     3121 cggtgcgccg cccatccctg cccattgtgc accactagga ttttaaagtc catagatttt
     3181 aatgaaattt ctattcctgt ctctga
//
LOCUS       NM_001024924            3592 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens exocyst complex component 1 (EXOC1), transcript variant
            3, mRNA.
ACCESSION   NM_001024924
VERSION     NM_001024924.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3592)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3592)
  AUTHORS   Qian X, Zhou X, Shentu P, Yao Y, Jiao D, Chen Q, Zhou J and Xu Y.
  TITLE     Sec3 knockdown inhibits TGF-beta induced epithelial-mesenchymal
            transition through the down-regulation of Akt phosphorylation in
            A549 cells
  JOURNAL   Biochem Biophys Res Commun 519 (2), 253-260 (2019)
   PUBMED   31495494
  REMARK    GeneRIF: study provides evidence that Sec3 is involved in TGF-beta
            induced cell migration and epithelial-mesenchymal transition
            processes, presumably through the regulation of PI3K/Akt signaling
            activation in A549 cancer cells
REFERENCE   3  (bases 1 to 3592)
  AUTHORS   Sugis E, Dauvillier J, Leontjeva A, Adler P, Hindie V, Moncion T,
            Collura V, Daudin R, Loe-Mie Y, Herault Y, Lambert JC, Hermjakob H,
            Pupko T, Rain JC, Xenarios I, Vilo J, Simonneau M and Peterson H.
  TITLE     HENA, heterogeneous network-based data set for Alzheimer's disease
  JOURNAL   Sci Data 6 (1), 151 (2019)
   PUBMED   31413325
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3592)
  AUTHORS   Lazniak S, Roszak A, Balcerek A, Warenczak-Florczak Z, Prokop E,
            Sowinska A, Sotiri E, Tsibulski A, Sajdak S and Jagodzinski PP.
  TITLE     Role of rs13117307 single nuclear polymorphism in the risk of
            uterine cervical cancer from Polish population and its impact on
            exocyst complex component 1 expression
  JOURNAL   Gene 627, 524-529 (2017)
   PUBMED   28694212
  REMARK    GeneRIF: rs13117307 is associated with cervical squamous cell
            carcinoma. rs13117307 SNP upregulated EXCO1 transcript levels in the
            non-cancerous cervical and in the cervical SCC tissue.
REFERENCE   5  (bases 1 to 3592)
  AUTHORS   Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y,
            van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ,
            Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari
            K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B,
            Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M,
            Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu
            KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N,
            Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco
            B, Giles RH, Ueffing M, Russell RB and Roepman R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3592)
  AUTHORS   Hsu SC, TerBush D, Abraham M and Guo W.
  TITLE     The exocyst complex in polarized exocytosis
  JOURNAL   Int Rev Cytol 233, 243-265 (2004)
   PUBMED   15037366
  REMARK    Review article
REFERENCE   7  (bases 1 to 3592)
  AUTHORS   Moskalenko S, Tong C, Rosse C, Mirey G, Formstecher E, Daviet L,
            Camonis J and White MA.
  TITLE     Ral GTPases regulate exocyst assembly through dual subunit
            interactions
  JOURNAL   J Biol Chem 278 (51), 51743-51748 (2003)
   PUBMED   14525976
REFERENCE   8  (bases 1 to 3592)
  AUTHORS   Inoue M, Chang L, Hwang J, Chiang SH and Saltiel AR.
  TITLE     The exocyst complex is required for targeting of Glut4 to the plasma
            membrane by insulin
  JOURNAL   Nature 422 (6932), 629-633 (2003)
   PUBMED   12687004
REFERENCE   9  (bases 1 to 3592)
  AUTHORS   Matern HT, Yeaman C, Nelson WJ and Scheller RH.
  TITLE     The Sec6/8 complex in mammalian cells: characterization of mammalian
            Sec3, subunit interactions, and expression of subunits in polarized
            cells
  JOURNAL   Proc Natl Acad Sci U S A 98 (17), 9648-9653 (2001)
   PUBMED   11493706
REFERENCE   10  (bases 1 to 3592)
  AUTHORS   Brymora A, Valova VA, Larsen MR, Roufogalis BD and Robinson PJ.
  TITLE     The brain exocyst complex interacts with RalA in a GTP-dependent
            manner: identification of a novel mammalian Sec3 gene and a second
            Sec15 gene
  JOURNAL   J Biol Chem 276 (32), 29792-29797 (2001)
   PUBMED   11406615
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC094751.1, SRR1803614.231929.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381295.7/ ENSP00000370695.2
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC110611.3, BC094751.1,
            BM468054.1 and AW589689.1.
            On Nov 22, 2018 this sequence version replaced NM_001024924.1.
            Summary: The protein encoded by this gene is a component of the
            exocyst complex, a multiple protein complex essential for targeting
            exocytic vesicles to specific docking sites on the plasma membrane.
            Though best characterized in yeast, the component proteins and
            functions of the exocyst complex have been demonstrated to be
            highly conserved in higher eukaryotes. At least eight components of
            the exocyst complex, including this protein, are found to interact
            with the actin cytoskeletal remodeling and vesicle transport
            machinery. Alternatively spliced transcript variants encoding
            distinct isoforms have been described. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (3) uses an alternate splice site
            in the 5' UTR, as compared to variant 1. Variants 1 and 3 encode
            the same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3592
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     gene            1..3592
                     /gene="EXOC1"
                     /gene_synonym="BM-102; SEC3; SEC3L1; SEC3P"
                     /note="exocyst complex component 1"
                     /db_xref="GeneID:55763"
                     /db_xref="HGNC:HGNC:30380"
                     /db_xref="MIM:607879"
     misc_feature    308..310
                     /gene="EXOC1"
                     /gene_synonym="BM-102; SEC3; SEC3L1; SEC3P"
                     /note="upstream in-frame stop codon"
     CDS             317..3001
                     /gene="EXOC1"
                     /gene_synonym="BM-102; SEC3; SEC3L1; SEC3P"
                     /note="isoform 1 is encoded by transcript variant 3;
                     exocyst complex component Sec3; SEC3-like 1"
                     /codon_start=1
                     /product="exocyst complex component 1 isoform 1"
                     /protein_id="NP_001020095.1"
                     /db_xref="CCDS:CCDS3502.1"
                     /db_xref="GeneID:55763"
                     /db_xref="HGNC:HGNC:30380"
                     /db_xref="MIM:607879"
                     /translation="MTAIKHALQRDIFTPNDERLLSIVNVCKAGKKKKNCFLCATVTTE
                     RPVQVKVVKVKKSDKGDFYKRQIAWALRDLAVVDAKDAIKENPEFDLHFEKIYKWVASS
                     TAEKNAFISCIWKLNQRYLRKKIDFVNVSSQLLEESVPSGENQSVTGGDEEVVDEYQEL
                     NAREEQDIEIMMEGCEYAISNAEAFAEKLSRELQVLDGANIQSIMASEKQVNILMKLLD
                     EALKEVDQIELKLSSYEEMLQSVKEQMDQISESNHLIHLSNTNNVKLLSEIEFLVNHMD
                     LAKGHIKALQEGDLASSRGIEACTNAADALLQCMNVALRPGHDLLLAVKQQQQRFSDLR
                     ELFARRLASHLNNVFVQQGHDQSSTLAQHSVELTLPNHHPFHRDLLRYAKLMEWLKSTD
                     YGKYEGLTKNYMDYLSRLYEREIKDFFEVAKIKMTGTTKESKKFATLPRKESAVKQETE
                     SLHGSSGKLTGSTSSLNKLSVQSSGNRRSQSSSLLDMGNMSASDLDVADRTKFDKIFEQ
                     VLSELEPLCLAEQDFISKFFKLQQHQSMPGTMAEAEDLDGGTLSRQHNCGTPLPVSSEK
                     DMIRQMMIKIFRCIEPELNNLIALGDKIDSFNSLYMLVKMSHHVWTAQNVDPASFLSTT
                     LGNVLVTVKRNFDKCISNQIRQMEEVKISKKSKVGILPFVAEFEEFAGLAESIFKNAER
                     RGDLDKAYTKLIRGVFVNVEKVANESQKTPRDVVMMENFHHIFATLSRLKISCLEAEKK
                     EAKQKYTDHLQSYVIYSLGQPLEKLNHFFEGVEARVAQGIREEEVSYQLAFNKQELRKV
                     IKEYPGKEVKKGLDNLYKKVDKHLCEEENLLQVVWHSMQDEFIRQYKHFEGLIARCYPG
                     SGVTMEFTIQDILDYCSSIAQSH"
     misc_feature    1631..1801
                     /gene="EXOC1"
                     /gene_synonym="BM-102; SEC3; SEC3L1; SEC3P"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NV70.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1724..1726
                     /gene="EXOC1"
                     /gene_synonym="BM-102; SEC3; SEC3L1; SEC3P"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9NV70.4); phosphorylation site"
     misc_feature    1727..1729
                     /gene="EXOC1"
                     /gene_synonym="BM-102; SEC3; SEC3L1; SEC3P"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9NV70.4); phosphorylation site"
     misc_feature    1733..1735
                     /gene="EXOC1"
                     /gene_synonym="BM-102; SEC3; SEC3L1; SEC3P"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9NV70.4);
                     phosphorylation site"
     misc_feature    1775..1777
                     /gene="EXOC1"
                     /gene_synonym="BM-102; SEC3; SEC3L1; SEC3P"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9NV70.4); phosphorylation site"
     misc_feature    1817..1819
                     /gene="EXOC1"
                     /gene_synonym="BM-102; SEC3; SEC3L1; SEC3P"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NV70.4); phosphorylation site"
     regulatory      3503..3508
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOC1"
                     /gene_synonym="BM-102; SEC3; SEC3L1; SEC3P"
                     /note="hexamer: AATAAA"
     polyA_site      3519
                     /gene="EXOC1"
                     /gene_synonym="BM-102; SEC3; SEC3L1; SEC3P"
                     /note="major polyA site"
     regulatory      3567..3572
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOC1"
                     /gene_synonym="BM-102; SEC3; SEC3L1; SEC3P"
                     /note="hexamer: ATTAAA"
     polyA_site      3592
                     /gene="EXOC1"
                     /gene_synonym="BM-102; SEC3; SEC3L1; SEC3P"
ORIGIN
        1 gagtttgtca cgtgcccgga tataggaagt gttgggggaa cggccgcttc ccgttcaacg
       61 ctttattgag gggcgtatcc tagtggcccc catccggtct ccgttttgga agacccgcct
      121 cggcacagcc aggctcagtc cggccttgcg gtaagccttc ggccgcggct gcccggtagt
      181 cccggcggcg gcggacagac gagctgacag gcaccagggt ctaaggcggc tcctcagtcc
      241 ggctgctgtc tccacgcctg gggtcgggca ccgctccttc tgaccttcct ttccccgttt
      301 gtcccgctga gaaaagatga cagcaatcaa gcatgcatta caaagagaca tttttacacc
      361 aaatgatgaa cgcctgctga gcattgtgaa tgtctgcaaa gcaggaaaaa agaaaaagaa
      421 ctgtttttta tgtgccacag tgacaactga acgccctgtg caggttaagg tggtcaaagt
      481 caagaaatcc gataagggag atttctacaa aaggcagatt gcatgggccc ttcgagatct
      541 tgctgtggta gatgccaaag atgctatcaa agaaaatcct gaatttgatt tacactttga
      601 aaaaatatat aaatgggttg ccagcagcac tgctgaaaag aatgcattta tttcatgcat
      661 ttggaaattg aatcagcgat atctccggaa gaaaattgat tttgtcaatg ttagctcaca
      721 gcttttggaa gaatctgttc caagtggaga aaatcagagt gtgacaggag gtgatgaaga
      781 agtagtagat gaataccaag agttaaatgc aagagaagaa caggatatcg aaataatgat
      841 ggaaggctgt gaatatgcaa tctcgaatgc ggaagccttt gcagaaaaat tgtccagaga
      901 gctgcaggtg ctagatgggg ctaacatcca gtcaatcatg gcatctgaaa aacaagtcaa
      961 catcctgatg aaattgctag atgaggctct aaaggaggta gatcagattg aattgaaact
     1021 gagcagttat gaggaaatgc tccaaagtgt aaaagaacaa atggatcaga tctctgaaag
     1081 caaccaccta attcatctta gtaacactaa taatgtaaaa ctcctatctg agatagagtt
     1141 ccttgtgaac cacatggact tggccaaagg tcatataaag gcccttcagg aaggagatct
     1201 tgcttcttcc agaggcattg aggcctgcac caatgctgct gatgcccttc tgcagtgcat
     1261 gaatgtagct cttcgaccag gccatgactt gcttctggca gtcaaacagc aacagcagcg
     1321 attcagtgat ttgcgagagc tttttgcccg gagactggcc agtcacctca acaatgtttt
     1381 tgttcaacag ggtcatgatc agagttcgac tcttgcccaa cactctgttg aactgacttt
     1441 acccaatcat catccatttc atagagattt gctccgatat gccaagctga tggagtggct
     1501 aaagagtaca gattatggaa aatatgaagg actaacaaag aattacatgg attatttatc
     1561 ccgactatat gaaagagaaa tcaaagattt ctttgaagtt gcaaagatca agatgactgg
     1621 cacaactaaa gaaagcaaga agtttgctac actgcctcga aaagaaagtg ctgtcaaaca
     1681 ggaaacagag agtcttcatg gaagttcggg gaaattaact ggatctactt ctagtctaaa
     1741 taagctcagt gttcagagtt cagggaatcg cagatctcag tcatcttccc tgttggatat
     1801 gggaaacatg tctgcctctg atctcgatgt tgctgacagg accaaatttg ataagatctt
     1861 tgaacaggta ctaagtgaac tggagcccct atgtctggca gaacaggact tcataagtaa
     1921 atttttcaaa ctacagcaac atcaaagtat gcctggaact atggctgaag cagaggacct
     1981 ggatggagga acattatcac ggcaacataa ttgtggcaca ccactgcctg tttcatctga
     2041 gaaagatatg atccgccaaa tgatgattaa aatatttcgc tgcattgagc cagagctgaa
     2101 caacctaatt gcattaggag acaaaattga tagctttaac tctctttata tgttagtcaa
     2161 aatgagtcat catgtgtgga ctgcacaaaa tgtggaccct gcttctttcc taagtactac
     2221 attgggaaat gttttggtga ctgtcaaaag gaactttgac aaatgcatta gtaaccaaat
     2281 aaggcaaatg gaagaagtaa agatctcaaa aaagagtaaa gttggaattc ttccatttgt
     2341 tgctgaattt gaagaatttg ctggacttgc agaatcaatc ttcaaaaatg ctgagcgtcg
     2401 tggagacctg gataaagcat acaccaaact tatcagagga gtatttgtta atgtggagaa
     2461 agtagcaaat gaaagccaga agacccccag ggatgtggtt atgatggaaa actttcacca
     2521 tatttttgca actctttctc gattgaaaat ctcatgtcta gaagcagaaa aaaaagaagc
     2581 caaacaaaaa tacacagatc accttcagtc ttatgtcatt tactctttag gacaacctct
     2641 tgaaaaacta aatcatttct ttgaaggtgt tgaagctcgc gtggcacagg gcataaggga
     2701 ggaggaagta agttaccaac ttgcatttaa caaacaagaa cttcgtaaag tcattaagga
     2761 gtaccctgga aaggaagtaa aaaaaggtct agataacctc tacaagaaag ttgataaaca
     2821 tttatgtgaa gaagagaact tacttcaggt ggtgtggcac tccatgcaag atgaatttat
     2881 acgccagtat aagcactttg aaggtttgat agctcgctgt tatcctggat ctggtgttac
     2941 aatggaattc actattcagg acattctgga ttattgttcc agcattgcac agtcccacta
     3001 aaccttgtga aagaagaaaa gataactgaa tgaagcattt gagtataaca gacactatac
     3061 caaaatacca agcaactgtt ttgagaaccc agacttaaaa ttttatgtat tattaaatgt
     3121 tagataaatg ggtagtacca tactacaaat atttaaatgc aaaattacca acctatatag
     3181 cagttttatt tgccctatag gttgcatact aacttaagca ttcatgtcac cataaaatgc
     3241 ctttagcatt tctcaatgac tggatgggaa attttccttt attgcctagc tgcttgtgtt
     3301 tgagtggttg tcctatgagc aatgcatttg gagttcttca gctttcacta cttctctgtt
     3361 gcttgctaat catgtaacta ctaaaatact gtacaaaatt gttttttcac actaacaaat
     3421 gtgtatatgg agaagagggc tcatgtgatg atcatttgtg aacttagatt tttgaggatt
     3481 atgtgactag taataaatgt gaaataaatt ttcaaaaaag ttgacatttg ataatatttt
     3541 taggtctatc atatgctgtc ttctgtatta aagcaagttc ttacaaaatc ca
//
LOCUS       NM_001024939            3088 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens solute carrier family 2 member 11 (SLC2A11), transcript
            variant 2, mRNA.
ACCESSION   NM_001024939
VERSION     NM_001024939.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3088)
  AUTHORS   McBrayer SK, Cheng JC, Singhal S, Krett NL, Rosen ST and Shanmugam
            M.
  TITLE     Multiple myeloma exhibits novel dependence on GLUT4, GLUT8, and
            GLUT11: implications for glucose transporter-directed therapy
  JOURNAL   Blood 119 (20), 4686-4697 (2012)
   PUBMED   22452979
  REMARK    GeneRIF: Critical roles for novel GLUT family members highlight a
            therapeutic strategy entailing selective GLUT inhibition to
            specifically target aberrant glucose metabolism in cancer.
REFERENCE   2  (bases 1 to 3088)
  AUTHORS   Manolescu AR, Augustin R, Moley K and Cheeseman C.
  TITLE     A highly conserved hydrophobic motif in the exofacial vestibule of
            fructose transporting SLC2A proteins acts as a critical determinant
            of their substrate selectivity
  JOURNAL   Mol Membr Biol 24 (5-6), 455-463 (2007)
   PUBMED   17710649
  REMARK    GeneRIF: GLUT11 can also transport fructose, but it has the motif
            DSV at the same position, which appears to function in the same
            manner as NXI and when all three residues are replaced with NAV
            fructose transport lost.
REFERENCE   3  (bases 1 to 3088)
  AUTHORS   Scheepers A, Schmidt S, Manolescu A, Cheeseman CI, Bell A, Zahn C,
            Joost HG and Schurmann A.
  TITLE     Characterization of the human SLC2A11 (GLUT11) gene: alternative
            promoter usage, function, expression, and subcellular distribution
            of three isoforms, and lack of mouse orthologue
  JOURNAL   Mol Membr Biol 22 (4), 339-351 (2005)
   PUBMED   16154905
  REMARK    GeneRIF: Different promoters and splicing generate three SLC2A11
            isoforms which are expressed in a tissue specific manner but do not
            appear to differ in their functional characteristics.
REFERENCE   4  (bases 1 to 3088)
  AUTHORS   Gaster M, Handberg A, Schurmann A, Joost HG, Beck-Nielsen H and
            Schroder HD.
  TITLE     GLUT11, but not GLUT8 or GLUT12, is expressed in human skeletal
            muscle in a fibre type-specific pattern
  JOURNAL   Pflugers Arch 448 (1), 105-113 (2004)
   PUBMED   14704796
REFERENCE   5  (bases 1 to 3088)
  AUTHORS   Wu X, Li W, Sharma V, Godzik A and Freeze HH.
  TITLE     Cloning and characterization of glucose transporter 11, a novel
            sugar transporter that is alternatively spliced in various tissues
  JOURNAL   Mol Genet Metab 76 (1), 37-45 (2002)
   PUBMED   12175779
  REMARK    GeneRIF: a novel sugar transporter that is alternatively spliced in
            various tissues
REFERENCE   6  (bases 1 to 3088)
  AUTHORS   Sasaki T, Minoshima S, Shiohama A, Shintani A, Shimizu A, Asakawa S,
            Kawasaki K and Shimizu N.
  TITLE     Molecular cloning of a member of the facilitative glucose
            transporter gene family GLUT11 (SLC2A11) and identification of
            transcription variants
  JOURNAL   Biochem Biophys Res Commun 289 (5), 1218-1224 (2001)
   PUBMED   11741323
REFERENCE   7  (bases 1 to 3088)
  AUTHORS   Doege H, Bocianski A, Scheepers A, Axer H, Eckel J, Joost HG and
            Schurmann A.
  TITLE     Characterization of human glucose transporter (GLUT) 11 (encoded by
            SLC2A11), a novel sugar-transport facilitator specifically expressed
            in heart and skeletal muscle
  JOURNAL   Biochem J 359 (Pt 2), 443-449 (2001)
   PUBMED   11583593
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.120305.1,
            SRR1803612.91305.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000316185.9/ ENSP00000326748.8
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC303452.1, AP000350.1 and
            AK092466.1.
            On Jun 2, 2019 this sequence version replaced NM_001024939.3.
            Summary: This gene belongs to a family of proteins that mediate the
            transport of sugars across the cell membrane. The encoded protein
            transports glucose and fructose. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Sep 2013].
            Transcript Variant: This variant (2, also known as SLC2A11-c)
            differs in the 5' UTR, lacks a portion of the 5' coding region, and
            initiates translation at an alternate start codon, compared to
            variant 1. The encoded isoform (b) is shorter and has a distinct
            N-terminus, compared to isoform a.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3088
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     gene            1..3088
                     /gene="SLC2A11"
                     /gene_synonym="GLUT10; GLUT11"
                     /note="solute carrier family 2 member 11"
                     /db_xref="GeneID:66035"
                     /db_xref="HGNC:HGNC:14239"
                     /db_xref="MIM:610367"
     CDS             126..1625
                     /gene="SLC2A11"
                     /gene_synonym="GLUT10; GLUT11"
                     /note="isoform b is encoded by transcript variant 2;
                     glucose transporter protein 11; glucose transporter protein
                     10; solute carrier family 2 (facilitated glucose
                     transporter), member 11; facilitative glucose transporter
                     GLUT11; glucose transporter-like protein XI; glucose
                     transporter type 10; glucose transporter type 11"
                     /codon_start=1
                     /product="solute carrier family 2, facilitated glucose
                     transporter member 11 isoform b"
                     /protein_id="NP_001020110.1"
                     /db_xref="CCDS:CCDS33616.1"
                     /db_xref="GeneID:66035"
                     /db_xref="HGNC:HGNC:14239"
                     /db_xref="MIM:610367"
                     /translation="MLHALLRSRMIQGRILLLTICAAGIGGTFQFGYNLSIINAPTLHI
                     QEFTNETWQARTGEPLPDHLVLLMWSLIVSLYPLGGLFGALLAGPLAITLGRKKSLLVN
                     NIFVVSAAILFGFSRKAGSFEMIMLGRLLVGVNAGVSMNIQPMYLGESAPKELRGAVAM
                     SSAIFTALGIVMGQVVGLRELLGGPQAWPLLLASCLVPGALQLASLPLLPESPRYLLID
                     CGDTEACLAALRRLRGSGDLAGELEELEEERAACQGCRARRPWELFQHRALRRQVTSLV
                     VLGSAMELCGNDSVYAYASSVFRKAGVPEAKIQYAIIGTGSCELLTAVVSCVVIERVGR
                     RVLLIGGYSLMTCWGSIFTVALCLQSSFPWTLYLAMACIFAFILSFGIGPAGVTGILAT
                     ELFDQMARPAACMVCGALMWIMLILVGLGFPFIMEALSHFLYVPFLGVCVCGAIYTGLF
                     LPETKGKTFQEISKELHRLNFPRRAQGPTWRSLEVIQSTEL"
     regulatory      3058..3063
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC2A11"
                     /gene_synonym="GLUT10; GLUT11"
                     /note="hexamer: AATAAA"
     polyA_site      3088
                     /gene="SLC2A11"
                     /gene_synonym="GLUT10; GLUT11"
                     /note="major polyA site"
ORIGIN
        1 ctctttcacc actgggcgct gcgcgctgcc cttccctccg cgcacaggct gccggctcac
       61 cgcttgctaa tggcagccgg ggtctccctg ggacagcaag acctccgctc aggcccctct
      121 ttcgaatgct ccacgccctc ctgcgatcta gaatgattca gggcaggatc ctgctcctga
      181 ccatctgcgc tgccggcatt ggtgggactt ttcagtttgg ctataacctc tctatcatca
      241 atgccccgac cttgcacatt caggaattca ccaatgagac atggcaggcg cgtactggag
      301 agccactgcc cgatcaccta gtcctgctta tgtggtccct catcgtgtct ctgtatcccc
      361 tgggaggcct ctttggagca ctgcttgcag gtcccttggc catcacgctg ggaaggaaga
      421 agtccctcct ggtgaataac atctttgtgg tgtcagcagc aatcctgttt ggattcagcc
      481 gcaaagcagg ctcctttgag atgatcatgc tgggaagact gctcgtggga gtcaatgcag
      541 gtgtgagcat gaacatccag cccatgtacc tgggggagag cgcccctaag gagctccgag
      601 gagctgtggc catgagctca gccatcttta cggctctggg gatcgtgatg ggacaggtgg
      661 tcggactcag ggagctccta ggtggccctc aggcctggcc cctgctgctg gccagctgcc
      721 tggtgcccgg ggcgctccag ctcgcctccc tgcctctgct ccctgaaagc ccgcgctacc
      781 tcctcattga ctgtggagac accgaggcct gcctggcagc actacggcgg ctccggggct
      841 ccggggactt ggcaggggag ctggaggagc tggaggagga gcgcgctgcc tgccagggct
      901 gccgtgcccg gcgcccatgg gagctgttcc agcatcgggc cctgaggaga caggtgacaa
      961 gcctcgtggt tctgggcagt gccatggagc tctgcgggaa tgactcggtg tacgcctacg
     1021 cctcctccgt gttccggaag gcaggagtgc cggaagcgaa gatccagtac gcgatcatcg
     1081 ggactgggag ctgcgagctg ctcacggcgg ttgttagttg tgtggtaatc gagagggtgg
     1141 gtcggcgcgt gctgctcatc ggtgggtaca gcctgatgac ctgctggggg agcatcttca
     1201 ctgtggccct gtgcctgcag agctccttcc cctggacact ctacctggcc atggcctgca
     1261 tctttgcctt catcctcagc tttggcattg gccctgccgg agtgacgggg atcctggcca
     1321 cagagctgtt tgaccagatg gccaggcctg ctgcctgcat ggtctgcggg gcgctcatgt
     1381 ggatcatgct catcctggtc ggcctgggat ttccctttat catggaggcc ttgtcccact
     1441 tcctctatgt ccctttcctt ggtgtctgtg tctgtggggc catctacact ggcctgttcc
     1501 ttcctgagac caaaggcaag accttccaag agatctccaa ggaattacac agactcaact
     1561 tccccaggcg ggcccagggc cccacgtgga ggagcctgga ggttatccag tcaacagaac
     1621 tctagtccca aaggggtggc cagagccaaa gccagctact gtcctgtcct ctgcttcctg
     1681 ccagggccct ggtcctcact ccctcctgca ttcctcattt aaggagtgtt tattgagcac
     1741 cctttgtgtg cagacatggc tccaggtgct tagcaatcaa tggtgagcgt ggtattccag
     1801 gctaaaggta attaactgac agaaaatcag taacaacata attacaggct ggttgtggca
     1861 gctcatgact gtaatcccag cactttggga ggccaaggtg ggaggatcaa ttgaggccag
     1921 agtttgaaac cagcctaggt aacatagtga gaccccctat ctctacaaaa aattttaaac
     1981 attagctggg catggtggta tgtgctaaca gctctagcta ctcaggaggc tgaggcagca
     2041 ggatcacttg agtccaagag ttcaaggtag cagtaagcta caatcacacc actgcatgcc
     2101 agactgggtg acagagggag acttcatctc tttaaaacat aataataata attacagact
     2161 caggaaatgc agtgaaagaa aaatacaggt tggccaggtg aggtggctga tgcctgtaat
     2221 cccagcactt tgggaggcca agatgggaag attgctttga gaccagaagt ttgagaccag
     2281 cctgggccac atagtaagat cctgtttcta ccaaaaaaaa aaaaaaaaaa aattagctgg
     2341 gtgtggtggt acatgcctgt ggtcccagct actcaggagg ctgaaatggg aggatcactt
     2401 gagcctggga ggtcgaggct gcagtgagtc ctaattgagc cactgcactc cagcctggac
     2461 aacagaaaga gaccatgttt caaaaaaaat aaatacaggt tgtagtgggt atgggtatgc
     2521 ataccaggag gcccgacctc gtctgagagg ggagtggtca gaaaagaatt ttctgaggaa
     2581 ttgatgtttt taatcaactt tattgaggta taatttatac ataaccaact gcatccattt
     2641 taagtatata tttggcgagt tttgagttct aagtatagtt ttggtgagtg tatacacttg
     2701 ggaaacacca ccgtgatcaa gatggaacct ttaccctacc ccaaggcacc cacatgccca
     2761 tttgctatca gtaacccacc ccagtcccag acctggggaa ccactgacct gctttctgcc
     2821 tcaattggtc agatttgcct tttttcagaa tctgaagtca ttccgtactg tatgtacaca
     2881 tttgtgtctg gcttggctcc agataaagtt tttgggattc atgaatgttg ttgcacgtat
     2941 taggagagac tcctttgtat tgctgagtag tattcccctc tgtggttaga ccatgattta
     3001 tttatccatc tacctgttgg tgaacatttt ggctgtttct aattcttggc catcatgaat
     3061 aaaactgctg tgaatgttcc tacaataa
//
LOCUS       NM_001025               3252 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S23 (RPS23), mRNA.
ACCESSION   NM_001025
VERSION     NM_001025.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3252)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   2  (bases 1 to 3252)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3252)
  AUTHORS   Dong Z, Pei S, Zhao Y, Guo S and Wang Y.
  TITLE     Identification of Hub Genes in Gastric Cancer with High
            Heterogeneity Based on Weighted Gene Co-Expression Network
  JOURNAL   Crit Rev Eukaryot Gene Expr 30 (2), 101-109 (2020)
   PUBMED   32558489
  REMARK    GeneRIF: Identification of Hub Genes in Gastric Cancer with High
            Heterogeneity Based on Weighted Gene Co-Expression Network.
REFERENCE   4  (bases 1 to 3252)
  AUTHORS   Zhao D, Meng J, Zhao Y, Huo Y, Liu Y, Zheng N, Zhang M, Gao Y, Chen
            Z, Sun H, Wang X, Jing C, Zhang T, Zhang X, Luo H, Wang X, Zhang J,
            Liu FR, Li Y, Bu G, Wen L, Huang TY, Xu H and Zhang YW.
  TITLE     RPS23RG1 Is Required for Synaptic Integrity and Rescues Alzheimer's
            Disease-Associated Cognitive Deficits
  JOURNAL   Biol Psychiatry 86 (3), 171-184 (2019)
   PUBMED   30292394
  REMARK    GeneRIF: The study results reveal a role for RPS23RG1 in maintaining
            synaptic integrity and function and provide a new mechanism for
            synaptic dysfunction in Alzheimer's disease (AD) pathogenesis.
REFERENCE   5  (bases 1 to 3252)
  AUTHORS   Paolini NA, Attwood M, Sondalle SB, Vieira CMDS, van Adrichem AM, di
            Summa FM, O'Donohue MF, Gleizes PE, Rachuri S, Briggs JW, Fischer R,
            Ratcliffe PJ, Wlodarski MW, Houtkooper RH, von Lindern M, Kuijpers
            TW, Dinman JD, Baserga SJ, Cockman ME and MacInnes AW.
  TITLE     A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human
            Dysmorphism
  JOURNAL   Am J Hum Genet 100 (3), 506-522 (2017)
   PUBMED   28257692
  REMARK    GeneRIF: A missense mutation is reported in two unrelated
            individuals with microcephaly, hearing loss, and overlapping
            dysmorphic features.
REFERENCE   6  (bases 1 to 3252)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   7  (bases 1 to 3252)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   8  (bases 1 to 3252)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   9  (bases 1 to 3252)
  AUTHORS   Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and
            Morton CC.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
REFERENCE   10  (bases 1 to 3252)
  AUTHORS   Hori N, Murakawa K, Matoba R, Fukushima A, Okubo K and Matsubara K.
  TITLE     A cDNA sequence of human ribosomal protein, homologue of yeast S28
  JOURNAL   Nucleic Acids Res 21 (18), 4394 (1993)
   PUBMED   8415000
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.192371.1,
            SRR1803613.42872.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000296674.13/ ENSP00000296674.8
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BU594771.1, D14530.1, AC010598.6 and AI955885.1.
            On Nov 22, 2018 this sequence version replaced NM_001025.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S12P family of ribosomal proteins. It is located in the
            cytoplasm. The protein shares significant amino acid similarity
            with S. cerevisiae ribosomal protein S28. As is typical for genes
            encoding ribosomal proteins, there are multiple processed
            pseudogenes of this gene dispersed through the genome. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3252
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.2"
     gene            1..3252
                     /gene="RPS23"
                     /gene_synonym="BTDD; MABAS; MCINS; PAMAS; S23; uS12"
                     /note="ribosomal protein S23"
                     /db_xref="GeneID:6228"
                     /db_xref="HGNC:HGNC:10410"
                     /db_xref="MIM:603683"
     misc_feature    1
                     /gene="RPS23"
                     /gene_synonym="BTDD; MABAS; MCINS; PAMAS; S23; uS12"
                     /note="predominant transcription initiation site"
     CDS             32..463
                     /gene="RPS23"
                     /gene_synonym="BTDD; MABAS; MCINS; PAMAS; S23; uS12"
                     /note="40S ribosomal protein S23; homolog of yeast
                     ribosomal protein S28"
                     /codon_start=1
                     /product="small ribosomal subunit protein uS12"
                     /protein_id="NP_001016.1"
                     /db_xref="CCDS:CCDS47241.1"
                     /db_xref="GeneID:6228"
                     /db_xref="HGNC:HGNC:10410"
                     /db_xref="MIM:603683"
                     /translation="MGKCRGLRTARKLRSHRRDQKWHDKQYKKAHLGTALKANPFGGAS
                     HAKGIVLEKVGVEAKQPNSAIRKCVRVQLIKNGKKITAFVPNDGCLNFIEENDEVLVAG
                     FGRKGHAVGDIPGVRFKVVKVANVSLLALYKGKKERPRS"
     misc_feature    32..109
                     /gene="RPS23"
                     /gene_synonym="BTDD; MABAS; MCINS; PAMAS; S23; uS12"
                     /note="propagated from UniProtKB/Swiss-Prot (P62266.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    215..217
                     /gene="RPS23"
                     /gene_synonym="BTDD; MABAS; MCINS; PAMAS; S23; uS12"
                     /note="3-hydroxyproline.
                     /evidence=ECO:0000269|PubMed:24550447,
                     ECO:0000269|PubMed:24550462, ECO:0000269|PubMed:28257692;
                     propagated from UniProtKB/Swiss-Prot (P62266.3);
                     hydroxylation site"
     misc_feature    434..436
                     /gene="RPS23"
                     /gene_synonym="BTDD; MABAS; MCINS; PAMAS; S23; uS12"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62266.3); acetylation site"
     regulatory      489..494
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS23"
                     /gene_synonym="BTDD; MABAS; MCINS; PAMAS; S23; uS12"
                     /note="hexamer: AATAAA"
     polyA_site      512
                     /gene="RPS23"
                     /gene_synonym="BTDD; MABAS; MCINS; PAMAS; S23; uS12"
                     /note="major polyA site"
     regulatory      3231..3236
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS23"
                     /gene_synonym="BTDD; MABAS; MCINS; PAMAS; S23; uS12"
                     /note="hexamer: AATAAA"
     polyA_site      3252
                     /gene="RPS23"
                     /gene_synonym="BTDD; MABAS; MCINS; PAMAS; S23; uS12"
ORIGIN
        1 ctctttcgct caggcccgtg gcgccgacag gatgggcaag tgtcgtggac ttcgtactgc
       61 taggaagctc cgtagtcacc gacgagacca gaagtggcat gataaacagt ataagaaagc
      121 tcatttgggc acagccctaa aggccaaccc ttttggaggt gcttctcatg caaaaggaat
      181 cgtgctggaa aaagtaggag ttgaagccaa acagccaaat tctgccatta ggaagtgtgt
      241 aagggtccag ctgatcaaga atggcaagaa aatcacagcc tttgtaccca atgacggttg
      301 cttgaacttt attgaggaaa atgatgaagt tctggttgct ggatttggtc gcaaaggtca
      361 tgctgttggt gatattcctg gagtccgctt taaggttgtc aaagtagcca atgtttctct
      421 tttggcccta tacaaaggca agaaggaaag accaagatca taaatattaa tggtgaaaac
      481 actgtagtaa taaattttca tatgccaaaa aatgtttgta tcttactgtc ccctgttctc
      541 accacgaaga tcatgttcat taccaccacc accccccctt atttttttta tcctaaacca
      601 gcaaacgcag gacctgtacc aattttagga gacaataaga cagggttgtt tcaggattct
      661 ctagagttaa taacatttgt aacctggcac agtttccctc atcctgtgga ataagaaaat
      721 gggatagatc tggaataaat gtgcagtatt gtagtattac tttaagaact ttaagggaac
      781 ttcaaaaact cactgaaatt ctagtgagat actttctttt ttattcttgg tattttccat
      841 atcgggtgca acacttcagt taccaaattt cattgcacat agattatctt aggtaccctt
      901 ggaaatgcac attcttgtat ccatcttaca ggggcccaag atgataaata gtaaactcaa
      961 aattgctccc cactctgttt attatttaaa ggtgtcagga tctgtgttgt aatgtgtcta
     1021 cattaatgtg tttaggagaa tacaggcatt ggatcattta gttgatggaa gtatatgcca
     1081 ggcaagggag ataaggtata cgacaagact gatgttttca gtatcttctc atgaggttgt
     1141 cagagacctt catgtcttca aagactagtc agcaaatgaa gtggtttagt gtagagacaa
     1201 gattggttgt gttttgataa tttaagctag gtattgagta catgtggatt ttgctgtcca
     1261 caaatacttg tttcagagtt ttcatggata cagtggcatg gttgaaatga agctgtgagc
     1321 cttctgcttt aaatctgatg taagaaactc ctgttaacaa atagtaagta tgggttaatt
     1381 agccctttga tcaaagccta gctttacatt gtttaggatc tttggaaaac aattggtttg
     1441 gttgcccact ttccgtagga tcaagagcag aacctttcac atggcacaga agaacccagg
     1501 ttgcgcttca tacctgcata ttccagcctt agcctgccat ttctctcctt ggcactttgt
     1561 gctccagcaa cactggtctc agttggtcat cctcaaactt gggttccata tccagcctca
     1621 ggacctctgt tcctgttact atggttcctt gcatgtcgcc tgctcttact aaagagctcg
     1681 tgtgttttcc agcacacttc ggtttatctc ttgatgatga tgctagtctc tccctccgca
     1741 agggcggaaa ggctgcctgt tggtttgtac cagtgtttcc taacgtgtag ctgcagtcag
     1801 tatttggcta agctgttccc aggggctcaa cagatgcttt cggatgagcc ttaactgacc
     1861 caatcctttg tgatgcggga gagattgcta ggcctcgctc acctggccag aaccagggaa
     1921 agaggccgcg gttgcagcgc gattccaggc cctgggcgtc aggcgcgggg tgggcagctc
     1981 tccccgggcg gtggggccct tgtgaccgcg aggcggggcg caccaggaag ggagtgggac
     2041 agcgcgggcg cccagggatg tggcctggtt acctgccttc tctgatacgt caagacacct
     2101 tcaacaatgg cttgcagctg taccctgttg gctgcaccca ggacgccctt ttcactgcta
     2161 agcagtccta cctgaggccc aggggctgcc agattgaccc ataaataatc tccggcgcct
     2221 cagatccaga agctgctgag cctgatctta gtgccttctc ctttctctgt gtggcccccc
     2281 agcccctttc cccactgcct tgtgtccaag gccctttcct tcatgtatcc atggaggaga
     2341 gacaaaaata cacatcaata aaataagata gggaatccat aaatagacat tcagaagtat
     2401 ggccaacgga tttatcttaa aaccaatgga ggaagaagag tttcaataaa tgttgtggac
     2461 ttccatttgt caaagaccaa aacaaaggaa ccccaacctt acatgtaata caaacttaac
     2521 tcaaaatgga tcatatatct aaatgtaaaa tggaaagcta taaaactgaa aacagactat
     2581 ctttacaacc taggcgtagg tatagttttt agacattaca ccaaaagcac atgccgtaaa
     2641 agaaaaaata gataaattgg tggatttcat taaaattaaa aaactttttc tctctgaaaa
     2701 atcctgttaa gctgggcgct gtggttcatg cctgtaatcc cagcactttg ggaggctgag
     2761 ttgggaagaa attaatagct tgaggccagg agttcaagat catcctgggc agcaaagtca
     2821 tacactcttg agggaagaga gagaccttct catattgttt tatattgttt tatactcagt
     2881 acctgtttta agaaaaaaac aaggaagtga aatcaaagac aggcagcccg gcaccaggcc
     2941 tgaaaccagc cctgggcctg cctggcctaa acctagtagt taaaaatcaa cttacgactt
     3001 agaacctgat gttatccgta gattccaagc attgtataaa aaaattgtga aactccctgt
     3061 tgtgttctgt accagtgcat gaaacccctg tcacatatcc cctagattgc tcaatcaatc
     3121 acgacccttt catgtgaaat ctttagtgtt gtgagccctt aaaagggaca gaaattgtgc
     3181 acttgaggag ctcagatttt aaggctgtag cttgccgatg ctcccagctg aataaagccc
     3241 ttccttctac aa
//
LOCUS       NM_001025091            3405 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens ATP binding cassette subfamily F member 1 (ABCF1),
            transcript variant 1, mRNA.
ACCESSION   NM_001025091
VERSION     NM_001025091.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3405)
  AUTHORS   Cao QT, Aguiar JA, Tremblay BJ, Abbas N, Tiessen N, Revill S,
            Makhdami N, Ayoub A, Cox G, Ask K, Doxey AC and Hirota JA.
  TITLE     ABCF1 Regulates dsDNA-induced Immune Responses in Human Airway
            Epithelial Cells
  JOURNAL   Front Cell Infect Microbiol 10, 487 (2020)
   PUBMED   33042865
  REMARK    GeneRIF: ABCF1 Regulates dsDNA-induced Immune Responses in Human
            Airway Epithelial Cells. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3405)
  AUTHORS   Fung SW, Cheung PF, Yip CW, Ng LW, Cheung TT, Chong CC, Lee C, Lai
            PB, Chan AW, Tsao GS, Wong CH, Chan SL, Lo KW and Cheung ST.
  TITLE     The ATP-binding cassette transporter ABCF1 is a hepatic oncofetal
            protein that promotes chemoresistance, EMT and cancer stemness in
            hepatocellular carcinoma
  JOURNAL   Cancer Lett 457, 98-109 (2019)
   PUBMED   31100412
  REMARK    GeneRIF: The ATP-binding cassette transporter ABCF1 is a hepatic
            oncofetal protein that promotes chemoresistance, epithelial
            mesenchymal transformation and cancer stemness in hepatocellular
            carcinoma cells.
REFERENCE   3  (bases 1 to 3405)
  AUTHORS   Qu L, Jiang Y, Cheng C, Wu D, Meng B, Chen Z, Zhu Y, Shaw N, Ouyang
            S and Liu ZJ.
  TITLE     Crystal Structure of ATP-Bound Human ABCF1 Demonstrates a Unique
            Conformation of ABC Proteins
  JOURNAL   Structure 26 (9), 1259-1265 (2018)
   PUBMED   30017566
  REMARK    GeneRIF: Study solves the crystal structure of an ATP-bound
            wild-type human ABCF1 at 2.3-A resolution. The comparative studies
            indicate that the structure is in a pre-activation intermediate
            conformation. This conformation is stabilized by the interaction
            between ATP and protein suggesting that this conformation is an
            important step in the activation of ABCF1.
REFERENCE   4  (bases 1 to 3405)
  AUTHORS   Mancarella C, Pasello M, Ventura S, Grilli A, Calzolari L, Toracchio
            L, Lollini PL, Donati DM, Picci P, Ferrari S and Scotlandi K.
  TITLE     Insulin-Like Growth Factor 2 mRNA-Binding Protein 3 is a Novel
            Post-Transcriptional Regulator of Ewing Sarcoma Malignancy
  JOURNAL   Clin Cancer Res 24 (15), 3704-3716 (2018)
   PUBMED   29703820
  REMARK    GeneRIF: The combined assessment of IGF2BP3 and ABCF1 predicts
            recurrence in Ewing sarcoma patients.
REFERENCE   5  (bases 1 to 3405)
  AUTHORS   Dong Z, Li Y, Zhou J, Jiang S, Wang Y, Chen Y, Zhao D, Yang C, Qian
            Q, Ma Y, He H, Ji H, Yang Y, Wang X, Xu X, Pang Y, Zou H, Jin L,
            Zhang F and Wang J.
  TITLE     Copy number variants of ABCF1, IL17REL, and FCGR3A are associated
            with the risk of gout
  JOURNAL   Protein Cell 8 (6), 467-470 (2017)
   PUBMED   28405828
  REMARK    GeneRIF: The high copy number variant in the ABCF1 gene was the
            strongest risk factor for gout.
REFERENCE   6  (bases 1 to 3405)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   7  (bases 1 to 3405)
  AUTHORS   Tyzack JK, Wang X, Belsham GJ and Proud CG.
  TITLE     ABC50 interacts with eukaryotic initiation factor 2 and associates
            with the ribosome in an ATP-dependent manner
  JOURNAL   J Biol Chem 275 (44), 34131-34139 (2000)
   PUBMED   10931828
REFERENCE   8  (bases 1 to 3405)
  AUTHORS   Klein I, Sarkadi B and Varadi A.
  TITLE     An inventory of the human ABC proteins
  JOURNAL   Biochim Biophys Acta 1461 (2), 237-262 (1999)
   PUBMED   10581359
  REMARK    Review article
REFERENCE   9  (bases 1 to 3405)
  AUTHORS   Richard M, Drouin R and Beaulieu AD.
  TITLE     ABC50, a novel human ATP-binding cassette protein found in tumor
            necrosis factor-alpha-stimulated synoviocytes
  JOURNAL   Genomics 53 (2), 137-145 (1998)
   PUBMED   9790762
REFERENCE   10  (bases 1 to 3405)
  AUTHORS   Allikmets R, Gerrard B, Hutchinson A and Dean M.
  TITLE     Characterization of the human ABC superfamily: isolation and mapping
            of 21 new genes using the expressed sequence tags database
  JOURNAL   Hum Mol Genet 5 (10), 1649-1655 (1996)
   PUBMED   8894702
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC112923.1, SRR1803615.5546.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000326195.13/ ENSP00000313603.8
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI547952.1, BC034488.2,
            AF027302.1, BM556481.1 and BU620927.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001025091.1.
            Summary: The protein encoded by this gene is a member of the
            superfamily of ATP-binding cassette (ABC) transporters. ABC
            proteins transport various molecules across extra- and
            intra-cellular membranes. ABC genes are divided into seven distinct
            subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This
            protein is a member of the GCN20 subfamily. Unlike other members of
            the superfamily, this protein lacks the transmembrane domains which
            are characteristic of most ABC transporters. This protein may be
            regulated by tumor necrosis factor-alpha and play a role in
            enhancement of protein synthesis and the inflammation process.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3405
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..3405
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="ATP binding cassette subfamily F member 1"
                     /db_xref="GeneID:23"
                     /db_xref="HGNC:HGNC:70"
                     /db_xref="MIM:603429"
     CDS             47..2584
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="isoform a is encoded by transcript variant 1;
                     ATP-binding cassette 50 (TNF-alpha stimulated);
                     TNFalpha-inducible ATP-binding protein;
                     TNF-alpha-stimulated ABC protein; ATP-binding cassette,
                     sub-family F (GCN20), member 1"
                     /codon_start=1
                     /product="ATP-binding cassette sub-family F member 1
                     isoform a"
                     /protein_id="NP_001020262.1"
                     /db_xref="CCDS:CCDS34380.1"
                     /db_xref="GeneID:23"
                     /db_xref="HGNC:HGNC:70"
                     /db_xref="MIM:603429"
                     /translation="MPKAPKQQPPEPEWIGDGESTSPSDKVVKKGKKDKKIKKTFFEEL
                     AVEDKQAGEEEKVLKEKEQQQQQQQQQQKKKRDTRKGRRKKDVDDDGEEKELMERLKKL
                     SVPTSDEEDEVPAPKPRGGKKTKGGNVFAALIQDQSEEEEEEEKHPPKPAKPEKNRINK
                     AVSEEQQPALKGKKGKEEKSKGKAKPQNKFAALDNEEEDKEEEIIKEKEPPKQGKEKAK
                     KAEQGSEEEGEGEEEEEEGGESKADDPYAHLSKKEKKKLKKQMEYERQVASLKAANAAE
                     NDFSVSQAEMSSRQAMLENASDIKLEKFSISAHGKELFVNADLYIVAGRRYGLVGPNGK
                     GKTTLLKHIANRALSIPPNIDVLLCEQEVVADETPAVQAVLRADTKRLKLLEEERRLQG
                     QLEQGDDTAAERLEKVYEELRATGAAAAEAKARRILAGLGFDPEMQNRPTQKFSGGWRM
                     RVSLARALFMEPTLLMLDEPTNHLDLNAVIWLNNYLQGWRKTLLIVSHDQGFLDDVCTD
                     IIHLDAQRLHYYRGNYMTFKKMYQQKQKELLKQYEKQEKKLKELKAGGKSTKQAEKQTK
                     EALTRKQQKCRRKNQDEESQEAPELLKRPKEYTVRFTFPDPPPLSPPVLGLHGVTFGYQ
                     GQKPLFKNLDFGIDMDSRICIVGPNGVGKSTLLLLLTGKLTPTHGEMRKNHRLKIGFFN
                     QQYAEQLRMEETPTEYLQRGFNLPYQDARKCLGRFGLESHAHTIQICKLSGGQKARVVF
                     AELACREPDVLILDEPTNNLDIESIDALGEAINEYKGAVIVVSHDARLITETNCQLWVV
                     EEQSVSQIDGDFEDYKREVLEALGEVMVSRPRE"
     misc_feature    47..829
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NE71.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    110..112
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NE71.2); phosphorylation site"
     misc_feature    116..118
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8NE71.2); phosphorylation site"
     misc_feature    359..361
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8NE71.2); phosphorylation site"
     misc_feature    368..370
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8NE71.2); phosphorylation site"
     misc_feature    371..373
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:17894550,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NE71.2); phosphorylation site"
     misc_feature    464..466
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:17894550,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NE71.2); phosphorylation site"
     misc_feature    542..544
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NE71.2); phosphorylation site"
     misc_feature    728..730
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18318008,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NE71.2); phosphorylation site"
     misc_feature    1721..1852
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NE71.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1829..1831
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NE71.2); phosphorylation site"
     regulatory      3171..3176
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="hexamer: AATAAA"
     polyA_site      3195
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="major polyA site"
     regulatory      3294..3299
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="hexamer: ACTAAA"
     polyA_site      3314
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
                     /note="major polyA site"
     polyA_site      3405
                     /gene="ABCF1"
                     /gene_synonym="ABC27; ABC50"
ORIGIN
        1 ggaaatagca ccgggcgccg ccacagtagc tgtaactgcc accgcgatgc cgaaggcgcc
       61 caagcagcag ccgccggagc ccgagtggat cggggacgga gagagcacga gcccatcaga
      121 caaagtggtg aagaaaggga agaaggacaa gaagatcaaa aaaacgttct ttgaagagct
      181 ggcagtagaa gataaacagg ctggggaaga agagaaagtg ctcaaggaga aggagcagca
      241 gcagcagcaa cagcaacagc agcaaaaaaa aaagcgagat acccgaaaag gcaggcggaa
      301 gaaggatgtg gatgatgatg gagaagagaa agagctcatg gagcgtctta agaagctctc
      361 agtgccaacc agtgatgagg aggatgaagt acccgcccca aaaccccgcg gagggaagaa
      421 aaccaagggt ggtaatgttt ttgcagccct gattcaggat cagagtgagg aagaggagga
      481 ggaagaaaaa catcctccta agcctgccaa gccggagaag aatcggatca ataaggccgt
      541 atctgaggaa cagcagcctg cactcaaggg caaaaaggga aaggaagaga agtcaaaagg
      601 gaaggctaag cctcaaaata aattcgctgc tctggacaat gaagaggagg ataaagaaga
      661 agaaattata aaggaaaagg agcctcccaa acaagggaag gagaaggcca agaaggcaga
      721 gcagggttca gaggaagaag gagaagggga agaagaggag gaggaaggag gagagtctaa
      781 ggcagatgat ccctatgctc atcttagcaa aaaggagaag aaaaagctga aaaaacagat
      841 ggagtatgag cgccaagtgg cttcattaaa agcagccaat gcagctgaaa atgacttctc
      901 cgtgtcccag gcggagatgt cctcccgcca agccatgtta gaaaatgcat ctgacatcaa
      961 gctggagaag ttcagcatct ccgctcatgg caaggagctg ttcgtcaatg cagacctgta
     1021 cattgtagcc ggccgccgct acgggctggt aggacccaat ggcaagggca agaccacact
     1081 cctcaagcac attgccaacc gagccctgag catccctccc aacattgatg tgttgctgtg
     1141 tgagcaggag gtggtagcag atgagacacc agcagtccag gctgttcttc gagctgacac
     1201 caagcgattg aagctgctgg aagaggagcg gcggcttcag ggacagctgg aacaagggga
     1261 tgacacagct gctgagaggc tagagaaggt gtatgaggaa ttgcgggcca ctggggcggc
     1321 agctgcagag gccaaagcac ggcggatcct ggctggcctg ggctttgacc ctgaaatgca
     1381 gaatcgaccc acacagaagt tctcaggggg ctggcgcatg cgtgtctccc tggccagggc
     1441 actgttcatg gagcccacac tgctgatgct ggatgagccc accaaccacc tggacctcaa
     1501 cgctgtcatc tggcttaata actacctcca gggctggcgg aagaccttgc tgatcgtctc
     1561 ccatgaccag ggcttcttgg atgatgtctg cactgatatc atccacctcg atgcccagcg
     1621 gctccactac tataggggca attacatgac cttcaaaaag atgtaccagc agaagcagaa
     1681 agaactgctg aaacagtatg agaagcaaga gaaaaagctg aaggagctga aggcaggcgg
     1741 gaagtccacc aagcaggcgg aaaaacaaac gaaggaagcc ctgactcgga agcagcagaa
     1801 atgccgacgg aaaaaccaag atgaggaatc ccaggaggcc cctgagctcc tgaagcgccc
     1861 taaggagtac actgtgcgct tcacttttcc agacccccca ccactcagcc ctccagtgct
     1921 gggtctgcat ggtgtgacat tcggctacca gggacagaaa ccactcttta agaacttgga
     1981 ttttggcatc gacatggatt caaggatttg cattgtgggc cctaatggtg tggggaagag
     2041 tacgctactc ctgctgctga ctggcaagct gacaccgacc catggggaaa tgagaaagaa
     2101 ccaccggctg aaaattggct tcttcaacca gcagtatgca gagcagctgc gcatggagga
     2161 gacgcccact gagtacctgc agcggggctt caacctgccc taccaggatg cccgcaagtg
     2221 cctgggccgc ttcggcctgg agagtcacgc ccacaccatc cagatctgca aactctctgg
     2281 tggtcagaag gcgcgagttg tgtttgctga gctggcctgt cgggaacctg atgtcctcat
     2341 cttggacgag ccaaccaata acctggacat agagtctatt gatgctctag gggaggccat
     2401 caatgaatac aagggtgctg tgatcgttgt cagccatgat gcccgactca tcacagaaac
     2461 caattgccag ctgtgggtgg tggaggagca gagtgttagc caaatcgatg gtgactttga
     2521 agactacaag cgggaggtgt tggaggccct gggtgaagtc atggtcagcc ggccccgaga
     2581 gtgagctttc cttcccagaa gtctcccgag agacatattt gtgtggccta gaagtcctct
     2641 gtggtctccc ctcctctgaa gactgcctct ggcctgcagc tgacctggca accattcagg
     2701 cacatgaagg tggagtgtga ccttgatgtg accgggatcc cactctgatt gcatccattt
     2761 ctctgaaaga cttgtttgtt ctgcttctct tcatataact gagctggcct tatccttggc
     2821 atccccctaa acaaacaaga ggtgaccacc ttattgtgag gttccatcca gccaagttta
     2881 tgtggcctat tgtctcagga ctctcatcac tcagaagcct gcctctgatt taccctacag
     2941 cttcaggccc agctgccccc cagtctttgg gtggtgctgt tcttttctgg tggatttaat
     3001 gctgactcac tggtacaaac agctgttgaa gctcagagct ggaggtgagc ttctgaggcc
     3061 tttgccatta tccagcccaa gatttggtgc ctgcagcctc ttgtctggtt gaggacttgg
     3121 ggcaggaaag gaatgctgct gaacttgaat ttccctttac aaggggaaga aataaaggaa
     3181 aggagttgct gccgacctgt cactgtttgg agattgatgg gagttggaac tgttctcagt
     3241 cttgatttgc tttattcagt tttctagcag cttttaatag tcccctcttc cccactaaat
     3301 ggatcttgtt tgcagtcttg ctgacagtgt ttgctgttta aggatcatag gattcctttc
     3361 ccccaaccct tcacgcaagg aaaaagcaaa gtgattcata ccttc
//
LOCUS       NM_001025096            1794 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens proteasome 20S subunit alpha 8 (PSMA8), transcript
            variant 2, mRNA.
ACCESSION   NM_001025096
VERSION     NM_001025096.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1794)
  AUTHORS   Teumer A, Holtfreter B, Volker U, Petersmann A, Nauck M, Biffar R,
            Volzke H, Kroemer HK, Meisel P, Homuth G and Kocher T.
  TITLE     Genome-wide association study of chronic periodontitis in a general
            German population
  JOURNAL   J Clin Periodontol 40 (11), 977-985 (2013)
   PUBMED   24024966
REFERENCE   2  (bases 1 to 1794)
  AUTHORS   Kirin M, Chandra A, Charteris DG, Hayward C, Campbell S, Celap I,
            Bencic G, Vatavuk Z, Kirac I, Richards AJ, Tenesa A, Snead MP, Fleck
            BW, Singh J, Harsum S, Maclaren RE, den Hollander AI, Dunlop MG,
            Hoyng CB, Wright AF, Campbell H, Vitart V and Mitry D.
  TITLE     Genome-wide association study identifies genetic risk underlying
            primary rhegmatogenous retinal detachment
  JOURNAL   Hum Mol Genet 22 (15), 3174-3185 (2013)
   PUBMED   23585552
REFERENCE   3  (bases 1 to 1794)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   4  (bases 1 to 1794)
  AUTHORS   Nusbaum C, Zody MC, Borowsky ML, Kamal M, Kodira CD, Taylor TD,
            Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X,
            Abouelleil A, Allen NR, Anderson S, Bloom T, Bugalter B, Butler J,
            Cook A, DeCaprio D, Engels R, Garber M, Gnirke A, Hafez N, Hall JL,
            Norman CH, Itoh T, Jaffe DB, Kuroki Y, Lehoczky J, Lui A, Macdonald
            P, Mauceli E, Mikkelsen TS, Naylor JW, Nicol R, Nguyen C, Noguchi H,
            O'Leary SB, O'Neill K, Piqani B, Smith CL, Talamas JA, Topham K,
            Totoki Y, Toyoda A, Wain HM, Young SK, Zeng Q, Zimmer AR, Fujiyama
            A, Hattori M, Birren BW, Sakaki Y and Lander ES.
  TITLE     DNA sequence and analysis of human chromosome 18
  JOURNAL   Nature 437 (7058), 551-555 (2005)
   PUBMED   16177791
  REMARK    Erratum:[Nature. 2005 Dec 1;438(7068):696. O'Neill, Keith [added]]
REFERENCE   5  (bases 1 to 1794)
  AUTHORS   Margottin-Goguet F, Hsu JY, Loktev A, Hsieh HM, Reimann JD and
            Jackson PK.
  TITLE     Prophase destruction of Emi1 by the SCF(betaTrCP/Slimb) ubiquitin
            ligase activates the anaphase promoting complex to allow progression
            beyond prometaphase
  JOURNAL   Dev Cell 4 (6), 813-826 (2003)
   PUBMED   12791267
REFERENCE   6  (bases 1 to 1794)
  AUTHORS   Claverol S, Burlet-Schiltz O, Girbal-Neuhauser E, Gairin JE and
            Monsarrat B.
  TITLE     Mapping and structural dissection of human 20 S proteasome using
            proteomic approaches
  JOURNAL   Mol Cell Proteomics 1 (8), 567-578 (2002)
   PUBMED   12376572
  REMARK    GeneRIF: This article provides an overview of some of the components
            in the human 20 S proteasome.
REFERENCE   7  (bases 1 to 1794)
  AUTHORS   Geley S, Kramer E, Gieffers C, Gannon J, Peters JM and Hunt T.
  TITLE     Anaphase-promoting complex/cyclosome-dependent proteolysis of human
            cyclin A starts at the beginning of mitosis and is not subject to
            the spindle assembly checkpoint
  JOURNAL   J Cell Biol 153 (1), 137-148 (2001)
   PUBMED   11285280
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.156840.1,
            SRR1803613.290871.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000415576.7/ ENSP00000409284.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC042820.1 and BC025393.1.
            On Jun 2, 2019 this sequence version replaced NM_001025096.1.
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the coding region, compared to variant 1, resulting
            in a shorter isoform (2).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1794
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q11.2"
     gene            1..1794
                     /gene="PSMA8"
                     /gene_synonym="PSMA7L"
                     /note="proteasome 20S subunit alpha 8"
                     /db_xref="GeneID:143471"
                     /db_xref="HGNC:HGNC:22985"
                     /db_xref="MIM:617841"
     misc_feature    86..88
                     /gene="PSMA8"
                     /gene_synonym="PSMA7L"
                     /note="upstream in-frame stop codon"
     CDS             98..850
                     /gene="PSMA8"
                     /gene_synonym="PSMA7L"
                     /EC_number="3.4.25.1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     proteasome (prosome, macropain) subunit, alpha type, 8;
                     proteasome subunit alpha-type 8; proteasome subunit alpha
                     8; alpha4s; proteasome alpha 4 subunit"
                     /codon_start=1
                     /product="proteasome subunit alpha-type 8 isoform 2"
                     /protein_id="NP_001020267.1"
                     /db_xref="CCDS:CCDS45842.1"
                     /db_xref="GeneID:143471"
                     /db_xref="HGNC:HGNC:22985"
                     /db_xref="MIM:617841"
                     /translation="MASRYDRAITVFSPDGHLFQVEYAQEAVKKGSTAVGIRGTNIVVL
                     GVEKKSVAKLQDERTVRKICALDDHVCMAFAGLTADARVVINRARVECQSHKLTVEDPV
                     TVEYITRFIATLKQKYTQSNGRRPFGISALIVGFDDDGISRLYQTDPSGTYHAWKANAI
                     GRSAKTVREFLEKNYTEDAIASDSEAIKLAIKALLEVVQSGGKNIELAIIRRNQPLKMF
                     SAKEVELYVTEIEKEKEEAEKKKSKKSV"
     regulatory      1774..1779
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSMA8"
                     /gene_synonym="PSMA7L"
                     /note="hexamer: AATAAA"
     polyA_site      1794
                     /gene="PSMA8"
                     /gene_synonym="PSMA7L"
                     /note="major polyA site"
ORIGIN
        1 gcttccgggc ggtagcacgc tgtgttggcg gcggctcccc gcttgcctca gctgcagcag
       61 cgggaagctc ggtggcaagc ccttgtagtc ctgtgcgatg gcgtctcgat atgacagggc
      121 gatcactgtc ttctccccag acggacacct ttttcaagtt gaatatgccc aggaagcggt
      181 gaagaaagga tccaccgcgg tcggaattcg aggtaccaat atagttgttc ttggggtaga
      241 aaaaaaatct gttgccaagc ttcaagatga aagaactgtg aggaaaattt gtgcccttga
      301 tgaccatgtc tgcatggctt ttgcaggact tactgctgat gctagagtag taataaacag
      361 agcccgtgtg gagtgccaga gccataagct tacggttgag gacccagtca ctgtagaata
      421 cataactcgc ttcatagcaa ctttaaagca gaaatatacc caaagcaatg gacgaagacc
      481 ttttggtatt tctgccttaa ttgtaggttt tgatgatgat ggtatctcaa gattgtatca
      541 gacagatcct tctggtactt atcatgcttg gaaggcaaat gcaataggcc gaagtgctaa
      601 aactgttcga gaatttctag aaaagaatta cacagaagat gccatagcaa gtgacagtga
      661 agctatcaag ttagcaataa aagctttgct agaagttgtc cagtctggtg gaaaaaacat
      721 tgaacttgct ataataagaa gaaatcaacc tttgaagatg tttagtgcaa aagaagttga
      781 attatatgta actgaaatag aaaaggaaaa ggaagaagca gagaagaaaa aatcaaagaa
      841 atctgtctaa ttcttaggat gaccactggg aggtcttaat gttttgtttt attgtactgc
      901 ctgaggttgt ttagtgaaat tttagaggaa aacagttatt ttgcagcatt acatgcagta
      961 cttgtgtgat gttttgagaa tgccagatct gtggctgtct tcattctatt acatagtcaa
     1021 acataggttt atgtgaagat tttctttgaa aggggatttc agtaattgtt gagagcagtc
     1081 ataattccac ataagcctga gactctataa tttgtccagt gtcttactta ccttcatata
     1141 tgcaaatata attttaaaaa attttttaat taaaaaaatt taataatttg gtgatgtttg
     1201 aatattgact gtcagttaag gacatagcta ttccaaataa actaaatata atattgagct
     1261 gcatttctca aagaatgaca aaagcatcct tatactgatg agttcttaaa attttgtcag
     1321 agccttcttc attttacaat attttgttat ttttatttta cctttttcat tttacaatat
     1381 ttcgttattt ttattttacc tttttcattt tacaagttgc aatatattgt ttcgttcatg
     1441 gaacaaatat aggctgaatt caaacatgca attaaagcat gggaagagct tctaagggca
     1501 tcttaacagg atgctacatg aaaataagga aagaaattaa tacatatcac ttttagttta
     1561 gatttttatt ttatctcaag tatgtccagt gtgttcggtt tgttacatat tccatgaaat
     1621 atctgagtgt gtattttatg attggtatta tggaaggctt attgggggaa caagaaaaat
     1681 ataaaaagtg atctctgccc acggaaagga tttaatccaa atggtccaca agaggaatgt
     1741 gcttaattcc tacagtgagt ttatattttt gaaaataaaa gctagtaaat attc
//
LOCUS       NM_001025101            2738 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens myelin basic protein (MBP), transcript variant 7, mRNA.
ACCESSION   NM_001025101
VERSION     NM_001025101.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2738)
  AUTHORS   Martin Monreal MT, Hansen BE, Iversen PF, Enevold C, Odum N,
            Sellebjerg F, Hojrup P, Rode von Essen M and Nielsen CH.
  TITLE     Citrullination of myelin basic protein induces a Th17-cell response
            in healthy individuals and enhances the presentation of MBP85-99 in
            patients with multiple sclerosis
  JOURNAL   J Autoimmun 139, 103092 (2023)
   PUBMED   37506490
  REMARK    GeneRIF: Citrullination of myelin basic protein induces a Th17-cell
            response in healthy individuals and enhances the presentation of
            MBP85-99 in patients with multiple sclerosis.
REFERENCE   2  (bases 1 to 2738)
  AUTHORS   Zhang F, Zeng J, Zhang X, Gu J, Han Y, Zhang P, Li W and Gu R.
  TITLE     Investigation of the relationship between MBP gene polymorphisms and
            delayed encephalopathy after acute carbon monoxide poisoning
  JOURNAL   Neurotoxicology 94, 217-222 (2023)
   PUBMED   36481359
  REMARK    GeneRIF: Investigation of the relationship between MBP gene
            polymorphisms and delayed encephalopathy after acute carbon monoxide
            poisoning.
REFERENCE   3  (bases 1 to 2738)
  AUTHORS   Mancino DNJ, Lima A, Roig P, Garcia Segura LM, De Nicola AF and
            Garay LI.
  TITLE     Tibolone restrains neuroinflammation in mouse experimental
            autoimmune encephalomyelitis
  JOURNAL   J Neuroendocrinol 34 (1), e13078 (2022)
   PUBMED   34961984
REFERENCE   4  (bases 1 to 2738)
  AUTHORS   Martinsen V and Kursula P.
  TITLE     Multiple sclerosis and myelin basic protein: insights into protein
            disorder and disease
  JOURNAL   Amino Acids 54 (1), 99-109 (2022)
   PUBMED   34889995
  REMARK    GeneRIF: Multiple sclerosis and myelin basic protein: insights into
            protein disorder and disease. Review article
REFERENCE   5  (bases 1 to 2738)
  AUTHORS   Nevinsky GA, Baranova SV, Buneva VN and Dmitrenok PS.
  TITLE     Multiple Sclerosis: Enzymatic Cross Site-Specific Hydrolysis of H1
            Histone by IgGs against H1, H2A, H2B, H3, H4 Histones, and Myelin
            Basic Protein
  JOURNAL   Biomolecules 11 (8), 1140 (2021)
   PUBMED   34439806
  REMARK    GeneRIF: Multiple Sclerosis: Enzymatic Cross Site-Specific
            Hydrolysis of H1 Histone by IgGs against H1, H2A, H2B, H3, H4
            Histones, and Myelin Basic Protein. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2738)
  AUTHORS   Boylan KB, Ayres TM, Popko B, Takahashi N, Hood LE and Prusiner SB.
  TITLE     Repetitive DNA (TGGA)n 5' to the human myelin basic protein gene: a
            new form of oligonucleotide repetitive sequence showing length
            polymorphism
  JOURNAL   Genomics 6 (1), 16-22 (1990)
   PUBMED   1689270
REFERENCE   7  (bases 1 to 2738)
  AUTHORS   Scoble,H.A., Whitaker,J.N. and Biemann,K.
  TITLE     Analysis of the primary sequence of human myelin basic protein
            peptides 1-44 and 90-170 by fast atom bombardment mass spectrometry
  JOURNAL   J Neurochem 47 (2), 614-616 (1986)
   PUBMED   2426402
REFERENCE   8  (bases 1 to 2738)
  AUTHORS   Kamholz,J., de Ferra,F., Puckett,C. and Lazzarini,R.
  TITLE     Identification of three forms of human myelin basic protein by cDNA
            cloning
  JOURNAL   Proc Natl Acad Sci U S A 83 (13), 4962-4966 (1986)
   PUBMED   2425357
REFERENCE   9  (bases 1 to 2738)
  AUTHORS   Kishimoto,A., Nishiyama,K., Nakanishi,H., Uratsuji,Y., Nomura,H.,
            Takeyama,Y. and Nishizuka,Y.
  TITLE     Studies on the phosphorylation of myelin basic protein by protein
            kinase C and adenosine 3':5'-monophosphate-dependent protein kinase
  JOURNAL   J Biol Chem 260 (23), 12492-12499 (1985)
   PUBMED   2413024
REFERENCE   10  (bases 1 to 2738)
  AUTHORS   Saxe,D.F., Takahashi,N., Hood,L. and Simon,M.I.
  TITLE     Localization of the human myelin basic protein gene (MBP) to region
            18q22----qter by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 39 (4), 246-249 (1985)
   PUBMED   2414074
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3210695.1,
            SRR14038193.2233904.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000355994.7/ ENSP00000348273.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018529.12, AB208986.1,
            AK128770.1, AK098402.1 and BC080654.1.
            On Nov 23, 2018 this sequence version replaced NM_001025101.1.
            Summary: The protein encoded by the classic MBP gene is a major
            constituent of the myelin sheath of oligodendrocytes and Schwann
            cells in the nervous system. However, MBP-related transcripts are
            also present in the bone marrow and the immune system. These mRNAs
            arise from the long MBP gene (otherwise called 'Golli-MBP') that
            contains 3 additional exons located upstream of the classic MBP
            exons. Alternative splicing from the Golli and the MBP
            transcription start sites gives rise to 2 sets of MBP-related
            transcripts and gene products. The Golli mRNAs contain 3 exons
            unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They
            encode hybrid proteins that have N-terminal Golli aa sequence
            linked to MBP aa sequence. The second family of transcripts contain
            only MBP exons and produce the well characterized myelin basic
            proteins. This complex gene structure is conserved among species
            suggesting that the MBP transcription unit is an integral part of
            the Golli transcription unit and that this arrangement is important
            for the function and/or regulation of these genes. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (7) contains 3 exons unique to
            Golli-MBP and exons 1 and 3-7 of the classic MBP. It encodes the
            longer of the Golli-mbp isoforms (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2738
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q23"
     gene            1..2738
                     /gene="MBP"
                     /note="myelin basic protein"
                     /db_xref="GeneID:4155"
                     /db_xref="HGNC:HGNC:6925"
                     /db_xref="MIM:159430"
     misc_feature    209..211
                     /gene="MBP"
                     /note="upstream in-frame stop codon"
     CDS             230..1144
                     /gene="MBP"
                     /note="isoform 1 is encoded by transcript variant 7;
                     Golli-MBP; myelin A1 protein; myelin membrane
                     encephalitogenic protein"
                     /codon_start=1
                     /product="Golli-MBP isoform 1"
                     /protein_id="NP_001020272.1"
                     /db_xref="GeneID:4155"
                     /db_xref="HGNC:HGNC:6925"
                     /db_xref="MIM:159430"
                     /translation="MGNHAGKRELNAEKASTNSETNRGESEKKRNLGELSRTTSEDNEV
                     FGEADANQNNGTSSQDTAVTDSKRTADPKNAWQDAHPADPGSRPHLIRLFSRDAPGRED
                     NTFKDRPSESDELQTIQEDSAATSESLDVMASQKRPSQRHGSKYLATASTMDHARHGFL
                     PRHRDTGILDSIGRFFGGDRGAPKRGSGKDSHHPARTAHYGSLPQKSHGRTQDENPVVH
                     FFKNIVTPRTPPPSQGKGRGLSLSRFSWGAEGQRPGFGYGGRASDYKSAHKGFKGVDAQ
                     GTLSKIFKLGGRDSRSGSPMARR"
     misc_feature    230..670
                     /gene="MBP"
                     /note="propagated from UniProtKB/Swiss-Prot (P02686.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    233..235
                     /gene="MBP"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000269|PubMed:7544282; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); acetylation site"
     misc_feature    515..517
                     /gene="MBP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    650..652
                     /gene="MBP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P02687; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    665..667
                     /gene="MBP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04370; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    671..673
                     /gene="MBP"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P02688; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    680..682
                     /gene="MBP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P02688; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    686..688
                     /gene="MBP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04370; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    689..691
                     /gene="MBP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P02688; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    734..736
                     /gene="MBP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P04370; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    749..751
                     /gene="MBP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04370; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    758..760
                     /gene="MBP"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P04370; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); methylation site"
     misc_feature    764..895
                     /gene="MBP"
                     /note="propagated from UniProtKB/Swiss-Prot (P02686.3);
                     Region: Induces experimental autoimmune encephalomyelitis
                     (EAE) 1"
     misc_feature    767..976
                     /gene="MBP"
                     /note="propagated from UniProtKB/Swiss-Prot (P02686.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    776..778
                     /gene="MBP"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P04370; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); methylation site"
     misc_feature    797..799
                     /gene="MBP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P02687; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    836..838
                     /gene="MBP"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P04370; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    857..859
                     /gene="MBP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04370; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    869..871
                     /gene="MBP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P04370; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    899..904
                     /gene="MBP"
                     /note="Cleavage, by CTSG.
                     /evidence=ECO:0000269|PubMed:15100291; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); cleavage site"
     misc_feature    914..916
                     /gene="MBP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P02688; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    923..925
                     /gene="MBP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P02687; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    950..952
                     /gene="MBP"
                     /note="Omega-N-methylarginine, alternate.
                     /evidence=ECO:0000269|PubMed:5128665; Symmetric
                     dimethylarginine, alternate.
                     /evidence=ECO:0000269|PubMed:5128665; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); methylation site"
     misc_feature    965..997
                     /gene="MBP"
                     /note="propagated from UniProtKB/Swiss-Prot (P02686.3);
                     Region: Induces experimental autoimmune encephalomyelitis
                     (EAE) 2"
     misc_feature    971..976
                     /gene="MBP"
                     /note="Cleavage, by CTSG.
                     /evidence=ECO:0000269|PubMed:15100291; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); cleavage site"
     misc_feature    974..976
                     /gene="MBP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P25274; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    1112..1114
                     /gene="MBP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P02687; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     misc_feature    1124..1126
                     /gene="MBP"
                     /note="Phosphoserine, by UHMK1.
                     /evidence=ECO:0000269|PubMed:10880969; propagated from
                     UniProtKB/Swiss-Prot (P02686.3); phosphorylation site"
     regulatory      2713..2718
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MBP"
                     /note="hexamer: AATAAA"
     polyA_site      2738
                     /gene="MBP"
                     /note="major polyA site"
ORIGIN
        1 agtcaccgcc gccgcgcgcc agagagaagc agcctccggc cccggcggcc cctgtctccc
       61 gaccccggaa ggcgaagcag gctgcccggg gaccccgcgc gtgggcgctt gaagccgaga
      121 ccagcctgcc cgggcctggg caggcggagc agggccttgg accccgcggc gcccctcggc
      181 ctcggagcaa cgagcgcagc gccgcctctg aagagccaat ccattcagga tgggaaacca
      241 cgcaggcaaa cgagaattaa atgccgagaa ggccagtacg aatagtgaaa ctaacagagg
      301 agaatctgaa aaaaagagaa acctgggtga actttcacgg acaacctcag aggacaacga
      361 agtgttcgga gaggcagatg cgaaccagaa caatgggacc tcctctcagg acacagcggt
      421 gactgactcc aagcgcacag cggacccgaa gaatgcctgg caggatgccc acccagctga
      481 cccagggagc cgcccccact tgatccgcct cttttcccga gatgccccgg ggagggagga
      541 caacaccttc aaagacaggc cctctgagtc cgacgagctc cagaccatcc aagaagacag
      601 tgcagccacc tccgagagcc tggatgtgat ggcgtcacag aagagaccct cccagaggca
      661 cggatccaag tacctggcca cagcaagtac catggaccat gccaggcatg gcttcctccc
      721 aaggcacaga gacacgggca tccttgactc catcgggcgc ttctttggcg gtgacagggg
      781 tgcgcccaag cggggctctg gcaaggactc acaccacccg gcaagaactg ctcactacgg
      841 ctccctgccc cagaagtcac acggccggac ccaagatgaa aaccccgtag tccacttctt
      901 caagaacatt gtgacgcctc gcacaccacc cccgtcgcag ggaaagggga gaggactgtc
      961 cctgagcaga tttagctggg gggccgaagg ccagagacca ggatttggct acggaggcag
     1021 agcgtccgac tataaatcgg ctcacaaggg attcaaggga gtcgatgccc agggcacgct
     1081 ttccaaaatt tttaagctgg gaggaagaga tagtcgctct ggatcaccca tggctagacg
     1141 ctgaaaaccc acctggttcc ggaatcctgt cctcagcttc ttaatataac tgccttaaaa
     1201 ctttaatccc acttgcccct gttacctaat tagagcagat gacccctccc ctaatgcctg
     1261 cggagttgtg cacgtagtag ggtcaggcca cggcagccta ccggcaattt ccggccaaca
     1321 gttaaatgag aacatgaaaa cagaaaacgg ttaaaactgt ccctttctgt gtgaagatca
     1381 cgttccttcc cccgcaatgt gcccccagac gcacgtgggt cttcaggggg ccaggtgcac
     1441 agacgtccct ccacgttcac ccctccaccc ttggactttc ttttcgccgt ggctgcggca
     1501 cccttgcgct tttgctggtc actgccatgg aggcacacag ctgcagagac agagaggacg
     1561 tgggcggcag agaggactgt tgacatccaa gcttcctttg tttttttttc ctgtccttct
     1621 ctcacctcct aaagtagact tcatttttcc taacaggatt agacagtcaa ggagtggctt
     1681 actacatgtg ggagcttttg gtatgtgaca tgcgggctgg gcagctgtta gagtccaacg
     1741 tggggcagca cagagagggg gccacctccc caggccgtgg ctgcccacac accccaatta
     1801 gctgaattcg cgtgtggcag agggaggaaa aggaggcaaa cgtgggctgg gcaatggcct
     1861 cacataggaa acagggtctt cctggagatt tggtgatgga gatgtcaagc aggtggcctc
     1921 tggacgtcac cgttgccctg catggtggcc ccagagcagc ctctatgaac aacctcgttt
     1981 ccaaaccaca gcccacagcc ggagagtcca ggaagacttg cgcactcaga gcagaagggt
     2041 aggagtcctc tagacagcct cgcagccgcg ccagtcgccc atagacactg gctgtgaccg
     2101 ggcgtgctgg cagcggcagt gcacagtggc cagcactaac cctccctgag aagataaccg
     2161 gctcattcac ttcctcccag aagacgcgtg gtagcgagta ggcacaggcg tgcacctgct
     2221 cccgaattac tcaccgagac acacgggctg agcagacggc cccgtggatg gagacaaaga
     2281 gctcttctga ccatatcctt cttaacaccc gctggcatct cctttcgcgc ctccctccct
     2341 aacctactga cccacctttt gattttagcg cacctgtgat tgataggcct tccaaagagt
     2401 cccacgctgg catcaccctc cccgaggacg gagatgagga gtagtcagcg tgatgccaaa
     2461 acgcgtcttc ttaatccaat tctaattctg aatgtttcgt gtgggcttaa taccatgtct
     2521 attaatatat agcctcgatg atgagagagt tacaaagaac aaaactccag acacaaacct
     2581 ccaaattttt cagcagaagc actctgcgtc gctgagctga ggtcggctct gcgatccata
     2641 cgtggccgca cccacacagc acgtgctgtg acgatggctg aacggaaagt gtacactgtt
     2701 cctgaatatt gaaataaaac aataaacttt taatggta
//
LOCUS       NM_001025109            7969 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens CD34 molecule (CD34), transcript variant 1, mRNA.
ACCESSION   NM_001025109
VERSION     NM_001025109.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7969)
  AUTHORS   Chen X, Li S, Jiang ZM, Gu M, Feng B, Xie ZQ, Huang MY, Chen Z and
            Tang ML.
  TITLE     C-type Lectin Domain Family 4 Member G (CLEC4G) Is a Negative Marker
            for CD34 in the Evolution of Liver Pathogenesis
  JOURNAL   Ann Clin Lab Sci 53 (4), 516-528 (2023)
   PUBMED   37625828
  REMARK    GeneRIF: C-type Lectin Domain Family 4 Member G (CLEC4G) Is a
            Negative Marker for CD34 in the Evolution of Liver Pathogenesis.
REFERENCE   2  (bases 1 to 7969)
  AUTHORS   Zarina KZ and Pilmane M.
  TITLE     Expression of Markers Ki-67, Nestin, VEGF, CD34 and Apoptosis in
            Relatively Healthy Lung Tissue with Non-Changed and Metaplastic
            Bronchial Epithelium
  JOURNAL   Med Sci (Basel) 11 (1), 7 (2022)
   PUBMED   36649044
  REMARK    GeneRIF: Expression of Markers Ki-67, Nestin, VEGF, CD34 and
            Apoptosis in Relatively Healthy Lung Tissue with Non-Changed and
            Metaplastic Bronchial Epithelium. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 7969)
  AUTHORS   Georgiev GP, Tubbs RS, Olewnik L, Zielinska N, Telang M, Ananiev J,
            Dimitrova IN, Slavchev SA, Yordanov Y, LaPrade RF, Ruzik K and
            Landzhov B.
  TITLE     A comparative study of the epiligament of the medial collateral and
            anterior cruciate ligaments in the human knee: Immunohistochemical
            analysis of CD 34, alpha-smooth muscle actin and vascular
            endothelial growth factor in relation to epiligament theory
  JOURNAL   Knee 39, 78-90 (2022)
   PUBMED   36179587
  REMARK    GeneRIF: A comparative study of the epiligament of the medial
            collateral and anterior cruciate ligaments in the human knee:
            Immunohistochemical analysis of CD 34, alpha-smooth muscle actin and
            vascular endothelial growth factor in relation to epiligament
            theory.
REFERENCE   4  (bases 1 to 7969)
  AUTHORS   Saito N, Yamauchi T, Kawano N, Ono R, Yoshida S, Miyamoto T,
            Kamimura T, Shultz LD, Saito Y, Takenaka K, Shimoda K, Harada M,
            Akashi K and Ishikawa F.
  TITLE     Circulating CD34+ cells of primary myelofibrosis patients contribute
            to myeloid-dominant hematopoiesis and bone marrow fibrosis in
            immunodeficient mice
  JOURNAL   Int J Hematol 115 (2), 198-207 (2022)
   PUBMED   34773575
  REMARK    GeneRIF: Circulating CD34+ cells of primary myelofibrosis patients
            contribute to myeloid-dominant hematopoiesis and bone marrow
            fibrosis in immunodeficient mice.
REFERENCE   5  (bases 1 to 7969)
  AUTHORS   Ivanov D, Mironova E, Polyakova V, Evsyukova I, Osetrov M, Kvetnoy I
            and Nasyrov R.
  TITLE     Sudden infant death syndrome: Melatonin, serotonin, and CD34 factor
            as possible diagnostic markers and prophylactic targets
  JOURNAL   PLoS One 16 (9), e0256197 (2021)
   PUBMED   34506527
  REMARK    GeneRIF: Sudden infant death syndrome: Melatonin, serotonin, and
            CD34 factor as possible diagnostic markers and prophylactic targets.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 7969)
  AUTHORS   Satterthwaite AB, Burn TC, Le Beau MM and Tenen DG.
  TITLE     Structure of the gene encoding CD34, a human hematopoietic stem cell
            antigen
  JOURNAL   Genomics 12 (4), 788-794 (1992)
   PUBMED   1374051
REFERENCE   7  (bases 1 to 7969)
  AUTHORS   Simmons DL, Satterthwaite AB, Tenen DG and Seed B.
  TITLE     Molecular cloning of a cDNA encoding CD34, a sialomucin of human
            hematopoietic stem cells
  JOURNAL   J Immunol 148 (1), 267-271 (1992)
   PUBMED   1370171
REFERENCE   8  (bases 1 to 7969)
  AUTHORS   Onofrj MC, Fulgente T, Nobilio D, Bazzano S and Colamartino P.
  TITLE     Mapping of event-related potentials to auditory and visual odd-ball
            paradigms in controls
  JOURNAL   Eur Neurol 31 (4), 220-228 (1991)
   PUBMED   1868864
REFERENCE   9  (bases 1 to 7969)
  AUTHORS   Fackler MJ, Civin CI, Sutherland DR, Baker MA and May WS.
  TITLE     Activated protein kinase C directly phosphorylates the CD34 antigen
            on hematopoietic cells
  JOURNAL   J Biol Chem 265 (19), 11056-11061 (1990)
   PUBMED   1694174
REFERENCE   10  (bases 1 to 7969)
  AUTHORS   Fina L, Molgaard HV, Robertson D, Bradley NJ, Monaghan P, Delia D,
            Sutherland DR, Baker MA and Greaves MF.
  TITLE     Expression of the CD34 gene in vascular endothelial cells
  JOURNAL   Blood 75 (12), 2417-2426 (1990)
   PUBMED   1693532
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.142780.1,
            SRR1803611.193568.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000310833.12/ ENSP00000310036.7
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M81104.1, BC039146.1,
            AA022917.1 and AL356275.20.
            On May 17, 2019 this sequence version replaced NM_001025109.1.
            Summary: The protein encoded by this gene may play a role in the
            attachment of stem cells to the bone marrow extracellular matrix or
            to stromal cells. This single-pass membrane protein is highly
            glycosylated and phosphorylated by protein kinase C. Two transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Aug 2011].
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7969
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.2"
     gene            1..7969
                     /gene="CD34"
                     /note="CD34 molecule"
                     /db_xref="GeneID:947"
                     /db_xref="HGNC:HGNC:1662"
                     /db_xref="MIM:142230"
     CDS             46..1203
                     /gene="CD34"
                     /note="isoform a precursor is encoded by transcript variant
                     1; CD34 antigen; hematopoietic progenitor cell antigen
                     CD34; CD34 sialomucin"
                     /codon_start=1
                     /product="hematopoietic progenitor cell antigen CD34
                     isoform a precursor"
                     /protein_id="NP_001020280.1"
                     /db_xref="CCDS:CCDS31011.1"
                     /db_xref="GeneID:947"
                     /db_xref="HGNC:HGNC:1662"
                     /db_xref="MIM:142230"
                     /translation="MLVRRGARAGPRMPRGWTALCLLSLLPSGFMSLDNNGTATPELPT
                     QGTFSNVSTNVSYQETTTPSTLGSTSLHPVSQHGNEATTNITETTVKFTSTSVITSVYG
                     NTNSSVQSQTSVISTVFTTPANVSTPETTLKPSLSPGNVSDLSTTSTSLATSPTKPYTS
                     SSPILSDIKAEIKCSGIREVKLTQGICLEQNKTSSCAEFKKDRGEGLARVLCGEEQADA
                     DAGAQVCSLLLAQSEVRPQCLLLVLANRTEISSKLQLMKKHQSDLKKLGILDFTEQDVA
                     SHQSYSQKTLIALVTSGALLAVLGITGYFLMNRRSWSPTGERLGEDPYYTENGGGQGYS
                     SGPGTSPEAQGKASVNRGAQENGTGQATSRNGHSARQHVVADTEL"
     sig_peptide     46..138
                     /gene="CD34"
     mat_peptide     139..1200
                     /gene="CD34"
                     /product="hematopoietic progenitor cell antigen CD34
                     isoform a"
     misc_feature    151..153
                     /gene="CD34"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28906.2); glycosylation site"
     misc_feature    196..198
                     /gene="CD34"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28906.2); glycosylation site"
     misc_feature    208..210
                     /gene="CD34"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28906.2); glycosylation site"
     misc_feature    298..300
                     /gene="CD34"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28906.2); glycosylation site"
     misc_feature    364..366
                     /gene="CD34"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28906.2); glycosylation site"
     misc_feature    421..423
                     /gene="CD34"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28906.2); glycosylation site"
     misc_feature    424..522
                     /gene="CD34"
                     /note="propagated from UniProtKB/Swiss-Prot (P28906.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    469..471
                     /gene="CD34"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28906.2); glycosylation site"
     misc_feature    625..627
                     /gene="CD34"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28906.2); glycosylation site"
     misc_feature    790..792
                     /gene="CD34"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P28906.2); glycosylation site"
     misc_feature    916..978
                     /gene="CD34"
                     /note="propagated from UniProtKB/Swiss-Prot (P28906.2);
                     transmembrane region"
     misc_feature    1006..1200
                     /gene="CD34"
                     /note="propagated from UniProtKB/Swiss-Prot (P28906.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1030..1032
                     /gene="CD34"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q64314; propagated from
                     UniProtKB/Swiss-Prot (P28906.2); phosphorylation site"
     misc_feature    1060..1062
                     /gene="CD34"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q64314; propagated from
                     UniProtKB/Swiss-Prot (P28906.2); phosphorylation site"
     misc_feature    1081..1083
                     /gene="CD34"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64314; propagated from
                     UniProtKB/Swiss-Prot (P28906.2); phosphorylation site"
     regulatory      2382..2387
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD34"
                     /note="hexamer: ATTAAA"
     polyA_site      2403
                     /gene="CD34"
                     /note="major polyA site"
     regulatory      6351..6356
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD34"
                     /note="hexamer: ATTAAA"
     polyA_site      6372
                     /gene="CD34"
     regulatory      7888..7893
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD34"
                     /note="hexamer: AATAAA"
     polyA_site      7913
                     /gene="CD34"
ORIGIN
        1 agtgtcttcc actcggtgcg tctctctagg agccgcgcgg gaaggatgct ggtccgcagg
       61 ggcgcgcgcg cagggcccag gatgccgcgg ggctggaccg cgctttgctt gctgagtttg
      121 ctgccttctg ggttcatgag tcttgacaac aacggtactg ctaccccaga gttacctacc
      181 cagggaacat tttcaaatgt ttctacaaat gtatcctacc aagaaactac aacacctagt
      241 acccttggaa gtaccagcct gcaccctgtg tctcaacatg gcaatgaggc cacaacaaac
      301 atcacagaaa cgacagtcaa attcacatct acctctgtga taacctcagt ttatggaaac
      361 acaaactctt ctgtccagtc acagacctct gtaatcagca cagtgttcac caccccagcc
      421 aacgtttcaa ctccagagac aaccttgaag cctagcctgt cacctggaaa tgtttcagac
      481 ctttcaacca ctagcactag ccttgcaaca tctcccacta aaccctatac atcatcttct
      541 cctatcctaa gtgacatcaa ggcagaaatc aaatgttcag gcatcagaga agtgaaattg
      601 actcagggca tctgcctgga gcaaaataag acctccagct gtgcggagtt taagaaggac
      661 aggggagagg gcctggcccg agtgctgtgt ggggaggagc aggctgatgc tgatgctggg
      721 gcccaggtat gctccctgct ccttgcccag tctgaggtga ggcctcagtg tctactgctg
      781 gtcttggcca acagaacaga aatttccagc aaactccaac ttatgaaaaa gcaccaatct
      841 gacctgaaaa agctggggat cctagatttc actgagcaag atgttgcaag ccaccagagc
      901 tattcccaaa agaccctgat tgcactggtc acctcgggag ccctgctggc tgtcttgggc
      961 atcactggct atttcctgat gaatcgccgc agctggagcc ccacaggaga aaggctgggc
     1021 gaagaccctt attacacgga aaacggtgga ggccagggct atagctcagg acctgggacc
     1081 tcccctgagg ctcagggaaa ggccagtgtg aaccgagggg ctcaggaaaa cgggaccggc
     1141 caggccacct ccagaaacgg ccattcagca agacaacacg tggtggctga taccgaattg
     1201 tgactcggct aggtggggca aggctgggca gtgtccgaga gagcacccct ctctgcatct
     1261 gaccacgtgc tacccccatg ctggaggtga catctcttac gcccaaccct tccccactgc
     1321 acacacctca gaggctgttc ttggggccct acaccttgag gaggggcagg taaactcctg
     1381 tcctttacac attcggctcc ctggagccag actctggtct tctttgggta aacgtgtgac
     1441 gggggaaagc caaggtctgg agaagctccc aggaacaatc gatggccttg cagcactcac
     1501 acaggacccc cttcccctac cccctcctct ctgccgcaat acaggaaccc ccaggggaaa
     1561 gatgagcttt tctaggctac aattttctcc caggaagctt tgatttttac cgtttcttcc
     1621 ctgtattttc tttctctact ttgaggaaac caaagtaacc ttttgcacct gctctcttgt
     1681 aatgatatag ccagaaaaac gtgttgcctt gaaccacttc cctcatctct cctccaagac
     1741 actgtggact tggtcaccag ctcctccctt gttctctaag ttccactgag ctccatgtgc
     1801 cccctctacc atttgcagag tcctgcacag ttttctggct ggagcctaga acaggcctcc
     1861 caagttttag gacaaacagc tcagttctag tctctctggg gccacacaga aactcttttt
     1921 gggctccttt ttctccctct ggatcaaagt aggcaggacc atgggaccag gtcttggagc
     1981 tgagcctctc acctgtactc ttccgaaaaa tcctcttcct ctgaggctgg atcctagcct
     2041 tatcctctga tctccatggc ttcctcctcc ctcctgccga ctcctgggtt gagctgttgc
     2101 ctcagtcccc caacagatgc ttttctgtct ctgcctccct caccctgagc cccttccttg
     2161 ctctgcaccc ccatatggtc atagcccaga tcagctccta acccttatca ccagctgcct
     2221 cttctgtggg tgacccaggt ccttgtttgc tgttgatttc tttccagagg ggttgagcag
     2281 ggatcctggt ttcaatgacg gttggaaata gaaatttcca gagaagagag tattgggtag
     2341 atattttttc tgaatacaaa gtgatgtgtt taaatactgc aattaaagtg atactgaaac
     2401 acatctgtta tgtgactctg tcttagctgg gtgtgtctgc atgcaagagt gacaccctcc
     2461 attagaccta gctagactgt gcagtgatgt ggtggggagg accagccagg gaagagggag
     2521 cacctcagca gacacaggca ccagccagga tgctaaggac ctttagccaa gtctgccaac
     2581 tattctcctc catggggaga ggaaacatcc atttccagtg gtagaaaggc agacccgaat
     2641 gtaccaggga gcttccaaat ggagggtggt atgttgggtt cttaggagct gtacccttca
     2701 tgaacaccct tctgagaaga ggagcatgct gatcactgct gcaaaatatg caaaacaaag
     2761 ggaaggggca atgtcctgtg caccctttat tatcaggcca cccccctccc cagcccccca
     2821 ggtcagagta gacacagtga aggactatgt ggggactgtt gttctagaga cctggcagcc
     2881 aactcaggga gggggctggt ttccaccctc aagattaaga cagcagccta attaaaaaaa
     2941 aaatctgtaa gcatgtacct ccccccagct tccaaaacaa cccccacccc acccctacca
     3001 ggccatagga agttggggag ggagtgctga ggagctccag gaaacactcc caagtgtgtc
     3061 gacagtggca gaggcagttg gggccaaaca aaggttgatt cttccattct tatctccata
     3121 aagccagacc tttcccttca gcactcctcc acccccatct ccttcttgct tttctccaac
     3181 tcctctaatc ataggttctt ccctaggaca gaggggaggc gaaatgatga ggttcagagt
     3241 cttccctcaa aggcgatggc tgccttgagg gttggagcaa aggatgatga gcaaaagacg
     3301 atggtaatca gtagggaagt ccagcccact tgcatctagt tgcacatctt gccttgagag
     3361 taatccagtg agggtctgtc ccagctagga catcaagtag gaggggtggg ttcagggttc
     3421 agattcctag gaaatatggg aggagaggaa aaggcaactt ggatgcacct ccagcttcag
     3481 gcctagcaac ctgcaatgca tctcaccctg agtttgctgg aatgtgtatg tatgctttgg
     3541 gaggaagggc tgtgtgtgta ttgcggggtg gggtggggca gctggttccc tctgacagct
     3601 ggacagcttg ccctgaagaa tttgcctgct ttctggaaaa atccaacttt cccaccgtgg
     3661 gcctgagcgt cctggtacag caatggcgcc acctgctggc cttattgagg tcctactgct
     3721 cagcctcagc tcaatcgcct ccatgttggg cttctctccc tggctgcccc accctctagt
     3781 ccaatttctc ttgtacacaa agctcatata actatagaac gtcactgttg aagagaactt
     3841 taaagataca tttaattaaa ctcccttatg gtatagttaa agacaaacta aggctcagag
     3901 aagggaggtg gcttgcccaa tcacccagaa ttccaaagtc ctgaatctgt agttttccct
     3961 tccatcatat catcctactc ttctgccgag tcctccgtgt tactccagtt ggatgtcatg
     4021 aagccagtgt ggcagtgtga agataggttt gggacttcac ttctggagca tttcatcaac
     4081 ataagctatc ctaggcctgg ccagccaagc aggtcctgga ggagccccag gacaaagatc
     4141 acaggaggcc atgaggttcg gcttcttcgg cgcccacagt gagcccagga aaattagctg
     4201 tagggtatta cactgttgac tatggagagc atatctggaa ttatcttcag ccagattttc
     4261 atctgaatgg ataaatggga ataccatcta agtccagata aatagatcac ttccatctca
     4321 tcccttctag gtagattaat cccacacttc ctcttcacac aaaaccagta ataggtcatc
     4381 gattttgtgc aacaggatgc tgcttctctt cctaaagccc ccatcgaaga ggcttccagc
     4441 caccattcaa tcattcatca agtcttatga tgtgccagac actgcgcgaa atgtgccaga
     4501 acatctgtta tgtgccagac actgttcttg agactgggga tacagcaaac actcatgaag
     4561 cttataattc tagcagaaga ggacagtaaa caatgtcatc tcagtaagta tatacatgtg
     4621 ttttcaggat tgagagctat gaaaaacata aaatatattg agaataatgg ttggtatttt
     4681 acatatggtg gttactttta gaaaaataac agtggagagc acagcttcac ttgaatgaag
     4741 tggagaagca ggttgtatgc caagctggga gagattatcc cacacagggg aaaggacaag
     4801 tgcaaagccc tatgatgaaa agctgccaag tgcagaaagc ctcagatggc agggggcaag
     4861 atggccatga ggttgtgtca gtgagtgggg gtggggagag gcaggaggtc agactacatg
     4921 gggccttttt agttgtagat tgggaagcca ctggagggtt ttgagcagag aagtcatatc
     4981 atctgcttta tgttttaaaa ggatcatgct ggctgctgag tagagaatag aggttgaggg
     5041 ataagaaagt agaaggagac cgtagcaaga agaacgatca tggctgggag caggtgatca
     5101 tattggcagt gatgagatca agcagaattc aaaaagtggt ttcaaagtag aggtaacagg
     5161 acttgctcag tctatttatt tcttcaaata ataatcatat ttacaatgat agtagctaac
     5221 agtttttgag tgcttactgt atgaaaattg agatatggtg ccaatattta aatagcatat
     5281 tttacttaac attcacagaa accctgtgaa gtaggttcta ttatctcaga aaaagaaact
     5341 gaaactcaga gaataacaag ggactgtgtt acgtgcacag tggcagaggc aaagatgaat
     5401 aggatgtgag tttatttgaa ccccaaatgt ttaaatcttg gggataatac aacacacatt
     5461 taaacaaaga agcaagaaaa aaaatgcaca acagaaagtg agaaataaca cgaggaaaga
     5521 ctaaatgaag tgctttgtat ctagatgtgg gcaggaccct ttccagctga gaagatctga
     5581 gactgggtca tgaacaggtg gtttctgagt gggtcctgta aaaatgaata cgattttgat
     5641 gatagtaatg agtaaggaca tttgagactg atagaagagt acatacaata tgtagtgatg
     5701 gggaaagata aggtactgtc aaaggacaat gtgttttctg gtatgacaga gaagtagaat
     5761 gtgttaaggg aagccgagta ccagaaagat ccgggtgtca cagtttgtgt agggtgttta
     5821 aagctaaacc acagagttta attttatcca atagaagagg agccacagaa gagtttccat
     5881 ttattcatta atttattcat ttattcaaaa aatatttgag tgcttattat aagccaggta
     5941 ctatgccagg cacctgggat aagacatagt cccttctgtc aagtctttac attgggtgga
     6001 tgtgggaggg acagatgaca gaacaatatg cattgagtgt aagtgctatg gtataggaag
     6061 ctctgagtgg gaggggcatg gaagccgtgg aagaccatgg aaggcttccc aggagaagtg
     6121 acgtctggac tgatcctttg gtcaagcagg agttaaagag gagaaaagga gagatatggg
     6181 tgttcccgag agaggaagaa gccttgtccc aggagcaaag tgagggtgat tgttccagaa
     6241 atgtgagtga ttcttttaag gctcaagcaa agcatgtgat tcttctttat accttctatt
     6301 tctttgctga gtgtttctgt tcttttgttt caagcatgct gcaattgctc attaaagcat
     6361 gtttatgatg gctgtctgtt ttaaaattct tgtcagatgg tttcaacatc tttatcatct
     6421 caatgttggc atctgttaat ggttttttct caatcaaatt gagattttcc tggttcttgg
     6481 tattaccagt gattttaatt gcatctggaa atttgggatt tatgttgaaa gactggatct
     6541 tattgaaaga ttctgtttag cacccctcct ttgataccac actggtgggt ccaggttccc
     6601 cattcagctg ttgacacctt cagggcagag aggtgggatg gggtgaaggg ggtacctcat
     6661 tattgctggc ccaggttaga agttcaggct tcccagtaga tctctgctga taccaccctg
     6721 gtgccatgtc attccttgag tccaaaagtc cctcccaatt ctgccttctt ctctctacat
     6781 atcggagtct ccctatgttt gacttatata taatgtccag ggtttttaga gttagttaac
     6841 aggaggcata agaaaaagtg tgtccactcc atcttgtctg gaactggaag ttcaagtcga
     6901 atataagaga gaggagagga aattacaagc catgagactg gagagttagg caggttctac
     6961 accagctatt ctcaaagccc tcttacactc ttaaaaattt agaacttcaa agagcttttg
     7021 attttgaaag ttacatctat caattattac tgtttcaaaa attaaaattg agaaaatttt
     7081 atttattaat ttgtttaaaa ataacaataa ttattcaatt acatgataat gtaagtaatg
     7141 cttttcttaa tgaaaaataa ttatattttc caaaacaaaa acaattagga aaaagagtgt
     7201 cattgtttta gactttggta aatctctcta atatctggct gaagagaaga atgctgattc
     7261 tttttttttt tttttttttt tgagacggag tctcgctctg tcacccaggc tggagtgtag
     7321 tggtgtgatc tcggctcact gcaagctctg cctcccgggt tcacgccatt ctcctgcctc
     7381 agcctcccaa gtagctggga ctacaggcac ccgccaccac gcccggctaa tttttttgta
     7441 tttttagtag agatggggtt tcaccgtgtt agccaggctg gtctcgatct cctgacctca
     7501 tgatccaccc acctcagcct cccaaagcgc tgggattaca ggtgtgagac accgcgccca
     7561 gcccccgaat gctgattctt ttatctgctt ctgtattcaa tctgttgtga tatgatgggt
     7621 agcctctgaa acactccact gtatacttgt gaaagaatga atgtgaaaaa ggaaaataga
     7681 tttgtagtat tattattcaa attgttttga cctcagagac cacttggaaa tgttttaggg
     7741 aacccccaga ggaccttgga tcatgctttg agaaccgcgg ctctagatat gttactattt
     7801 cagtagcatc taagtacatg tggctgctga gcacttgtaa tgtggctagt gcaaatgaga
     7861 gacaggactt ccagctatat gtaatttaat aaactcaaat ttaaaaactg gaacctcata
     7921 aaatgttttg ttgttgttgt taaacatgac cttatagttt tggtaggaa
//
LOCUS       NM_001025159            1653 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens CD74 molecule (CD74), transcript variant 1, mRNA.
ACCESSION   NM_001025159
VERSION     NM_001025159.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1653)
  AUTHORS   Hong WC, Lee DE, Kang HW, Kim MJ, Kim M, Kim JH, Fang S, Kim HJ and
            Park JS.
  TITLE     CD74 Promotes a Pro-Inflammatory Tumor Microenvironment by Inducing
            S100A8 and S100A9 Secretion in Pancreatic Cancer
  JOURNAL   Int J Mol Sci 24 (16), 12993 (2023)
   PUBMED   37629174
  REMARK    GeneRIF: CD74 Promotes a Pro-Inflammatory Tumor Microenvironment by
            Inducing S100A8 and S100A9 Secretion in Pancreatic Cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1653)
  AUTHORS   Hoeberg M, Noer JB, Vistesen MV, Bartels A, Bech EM, Nygard SB,
            Lademann U, Stenvang J, Liu S, Fuglsang AT, Brunner N and Moreira
            JMA.
  TITLE     The invariant chain CD74 protein is a cell surface binding partner
            of TIMP-1 in breast cancer cells
  JOURNAL   Mol Oncol 17 (8), 1595-1612 (2023)
   PUBMED   37081824
  REMARK    GeneRIF: The invariant chain CD74 protein is a cell surface binding
            partner of TIMP-1 in breast cancer cells.
REFERENCE   3  (bases 1 to 1653)
  AUTHORS   Cao L, Wang X, Liu X, Meng W, Guo W, Duan C, Liang X, Kang L, Lv P,
            Lin Q, Zhang R, Zhang X and Shen H.
  TITLE     Tumor Necrosis Factor alpha-Dependent Lung Inflammation Promotes the
            Progression of Lung Adenocarcinoma Originating From Alveolar Type II
            Cells by Upregulating MIF-CD74
  JOURNAL   Lab Invest 103 (3), 100034 (2023)
   PUBMED   36925198
  REMARK    GeneRIF: Tumor Necrosis Factor alpha-Dependent Lung Inflammation
            Promotes the Progression of Lung Adenocarcinoma Originating From
            Alveolar Type II Cells by Upregulating MIF-CD74.
REFERENCE   4  (bases 1 to 1653)
  AUTHORS   Ibanez LI, Martinez VP, Iglesias AA, Bellomo CM, Alonso DO, Coelho
            RM, Martinez Peralta L and Periolo N.
  TITLE     Decreased expression of surfactant Protein-C and CD74 in alveolar
            epithelial cells during influenza virus A(H1N1)pdm09 and H3N2
            infection
  JOURNAL   Microb Pathog 176, 106017 (2023)
   PUBMED   36736545
  REMARK    GeneRIF: Decreased expression of surfactant Protein-C and CD74 in
            alveolar epithelial cells during influenza virus A(H1N1)pdm09 and
            H3N2 infection.
REFERENCE   5  (bases 1 to 1653)
  AUTHORS   Trifone C, Baquero L, Czernikier A, Benencio P, Leng L, Laufer N,
            Quiroga MF, Bucala R, Ghiglione Y and Turk G.
  TITLE     Macrophage Migration Inhibitory Factor (MIF) Promotes Increased
            Proportions of the Highly Permissive Th17-like Cell Profile during
            HIV Infection
  JOURNAL   Viruses 14 (10), 2218 (2022)
   PUBMED   36298774
  REMARK    GeneRIF: Macrophage Migration Inhibitory Factor (MIF) Promotes
            Increased Proportions of the Highly Permissive Th17-like Cell
            Profile during HIV Infection. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1653)
  AUTHORS   Riberdy JM, Newcomb JR, Surman MJ, Barbosa JA and Cresswell P.
  TITLE     HLA-DR molecules from an antigen-processing mutant cell line are
            associated with invariant chain peptides
  JOURNAL   Nature 360 (6403), 474-477 (1992)
   PUBMED   1448172
REFERENCE   7  (bases 1 to 1653)
  AUTHORS   Bakke O and Dobberstein B.
  TITLE     MHC class II-associated invariant chain contains a sorting signal
            for endosomal compartments
  JOURNAL   Cell 63 (4), 707-716 (1990)
   PUBMED   2121367
REFERENCE   8  (bases 1 to 1653)
  AUTHORS   Marks MS, Blum JS and Cresswell P.
  TITLE     Invariant chain trimers are sequestered in the rough endoplasmic
            reticulum in the absence of association with HLA class II antigens
  JOURNAL   J Cell Biol 111 (3), 839-855 (1990)
   PUBMED   2391366
REFERENCE   9  (bases 1 to 1653)
  AUTHORS   Spiro RC and Quaranta V.
  TITLE     The invariant chain is a phosphorylated subunit of class II
            molecules
  JOURNAL   J Immunol 143 (8), 2589-2594 (1989)
   PUBMED   2507633
REFERENCE   10  (bases 1 to 1653)
  AUTHORS   Kudo,J., Chao,L.Y., Narni,F. and Saunders,G.F.
  TITLE     Structure of the human gene encoding the invariant gamma-chain of
            class II histocompatibility antigens
  JOURNAL   Nucleic Acids Res 13 (24), 8827-8841 (1985)
   PUBMED   3001652
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2939810.1,
            SRR14038192.2535787.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000009530.13/ ENSP00000009530.7
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011388.7 and AC011372.7.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 29, 2021 this sequence version replaced NM_001025159.2.
            Summary: The protein encoded by this gene associates with class II
            major histocompatibility complex (MHC) and is an important
            chaperone that regulates antigen presentation for immune response.
            It also serves as cell surface receptor for the cytokine macrophage
            migration inhibitory factor (MIF) which, when bound to the encoded
            protein, initiates survival pathways and cell proliferation. This
            protein also interacts with amyloid precursor protein (APP) and
            suppresses the production of amyloid beta (Abeta). Multiple
            alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, Aug 2011].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1653
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.1"
     gene            1..1653
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /note="CD74 molecule"
                     /db_xref="GeneID:972"
                     /db_xref="HGNC:HGNC:1697"
                     /db_xref="MIM:142790"
     CDS             162..1052
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /note="isoform a is encoded by transcript variant 1;
                     Ia-associated invariant chain; CD74 molecule, major
                     histocompatibility complex, class II invariant chain; CD74
                     antigen (invariant polypeptide of major histocompatibility
                     complex, class II antigen-associated); gamma chain of class
                     II antigens; HLA-DR-gamma; HLA class II histocompatibility
                     antigen gamma chain; MHC HLA-DR gamma chain; HLA-DR
                     antigens-associated invariant chain; class II
                     MHC-associated invariant chain peptide"
                     /codon_start=1
                     /product="HLA class II histocompatibility antigen gamma
                     chain isoform a"
                     /protein_id="NP_001020330.1"
                     /db_xref="CCDS:CCDS47309.1"
                     /db_xref="GeneID:972"
                     /db_xref="HGNC:HGNC:1697"
                     /db_xref="MIM:142790"
                     /translation="MHRRRSRSCREDQKPVMDDQRDLISNNEQLPMLGRRPGAPESKCS
                     RGALYTGFSILVTLLLAGQATTAYFLYQQQGRLDKLTVTSQNLQLENLRMKLPKPPKPV
                     SKMRMATPLLMQALPMGALPQGPMQNATKYGNMTEDHVMHLLQNADPLKVYPPLKGSFP
                     ENLRHLKNTMETIDWKVFESWMHHWLLFEMSRHSLEQKPTDAPPKVLTKCQEEVSHIPA
                     VHPGSFRPKCDENGNYLPLQCYGSIGYCWCVFPNGTEVPNTRSRGHHNCSESLELEDPS
                     SGLGVTKQDLGPVPM"
     misc_feature    162..281
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /note="propagated from UniProtKB/Swiss-Prot (P04233.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    234..236
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04441; propagated from
                     UniProtKB/Swiss-Prot (P04233.3); phosphorylation site"
     misc_feature    300..377
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /note="propagated from UniProtKB/Swiss-Prot (P04233.3);
                     transmembrane region"
     mat_peptide     450..521
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /product="Class-II-associated invariant chain peptide.
                     /evidence=ECO:0000269|PubMed:1448172. /id=PRO_0000448886"
                     /note="propagated from UniProtKB/Swiss-Prot (P04233.3)"
     misc_feature    549..551
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P04233.3); glycosylation site"
     misc_feature    567..569
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P04233.3); glycosylation site"
     misc_feature    768..770
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:22171320,
                     ECO:0000269|PubMed:23234360; propagated from
                     UniProtKB/Swiss-Prot (P04233.3); glycosylation site"
     misc_feature    783..788
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /note="Breakpoint for translocation to form a CD74-ROS1
                     fusion protein; propagated from UniProtKB/Swiss-Prot
                     (P04233.3); other site"
     misc_feature    834..839
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /note="propagated from UniProtKB/Swiss-Prot (P04233.3);
                     Region: Required for interaction with CTSL.
                     /evidence=ECO:0000305|PubMed:10022822,
                     ECO:0000305|PubMed:32855215"
     misc_feature    927..929
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:10022822; propagated from
                     UniProtKB/Swiss-Prot (P04233.3); glycosylation site"
     misc_feature    948..1049
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /note="propagated from UniProtKB/Swiss-Prot (P04233.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1002..1004
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:23234360; propagated from
                     UniProtKB/Swiss-Prot (P04233.3); glycosylation site"
     misc_feature    1005..1007
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /note="O-linked (Xyl...) (chondroitin sulfate) serine.
                     /evidence=ECO:0000269|PubMed:25326458,
                     ECO:0000269|PubMed:32337544, ECO:0000269|PubMed:36213313;
                     propagated from UniProtKB/Swiss-Prot (P04233.3);
                     glycosylation site"
     regulatory      1633..1638
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /note="hexamer: AATAAA"
     polyA_site      1653
                     /gene="CD74"
                     /gene_synonym="CLIP; DHLAG; HLADG; Ia-GAMMA; II; p33"
                     /note="major polyA site"
ORIGIN
        1 atcctgcccc gcaaaaggca gcttcaccaa agtggggtat ttccagcctt tgtagctttc
       61 acttccacat ctaccaagtg ggcggagtgg ccttctgtgg acgaatcaga ttcctctcca
      121 gcaccgactt taagaggcga gccggggggt cagggtccca gatgcacagg aggagaagca
      181 ggagctgtcg ggaagatcag aagccagtca tggatgacca gcgcgacctt atctccaaca
      241 atgagcaact gcccatgctg ggccggcgcc ctggggcccc ggagagcaag tgcagccgcg
      301 gagccctgta cacaggcttt tccatcctgg tgactctgct cctcgctggc caggccacca
      361 ccgcctactt cctgtaccag cagcagggcc ggctggacaa actgacagtc acctcccaga
      421 acctgcagct ggagaacctg cgcatgaagc ttcccaagcc tcccaagcct gtgagcaaga
      481 tgcgcatggc caccccgctg ctgatgcagg cgctgcccat gggagccctg ccccaggggc
      541 ccatgcagaa tgccaccaag tatggcaaca tgacagagga ccatgtgatg cacctgctcc
      601 agaatgctga ccccctgaag gtgtacccgc cactgaaggg gagcttcccg gagaacctga
      661 gacaccttaa gaacaccatg gagaccatag actggaaggt ctttgagagc tggatgcacc
      721 attggctcct gtttgaaatg agcaggcact ccttggagca aaagcccact gacgctccac
      781 cgaaagtact gaccaagtgc caggaagagg tcagccacat ccctgctgtc cacccgggtt
      841 cattcaggcc caagtgcgac gagaacggca actatctgcc actccagtgc tatgggagca
      901 tcggctactg ctggtgtgtc ttccccaacg gcacggaggt ccccaacacc agaagccgcg
      961 ggcaccataa ctgcagtgag tcactggaac tggaggaccc gtcttctggg ctgggtgtga
     1021 ccaagcagga tctgggccca gtccccatgt gagagcagca gaggcggtct tcaacatcct
     1081 gccagcccca cacagctaca gctttcttgc tcccttcagc ccccagcccc tcccccatct
     1141 cccaccctgt acctcatccc atgagaccct ggtgcctggc tctttcgtca cccttggaca
     1201 agacaaacca agtcggaaca gcagataaca atgcagcaag gccctgctgc ccaatctcca
     1261 tctgtcaaca ggggcgtgag gtcccaggaa gtggccaaaa gctagacaga tccccgttcc
     1321 tgacatcaca gcagcctcca acacaaggct ccaagaccta ggctcatgga cgagatggga
     1381 aggcacaggg agaagggata accctacacc cagaccccag gctggacatg ctgactgtcc
     1441 tctcccctcc agcctttggc cttggctttt ctagcctatt tacctgcagg ctgagccact
     1501 ctcttccctt tccccagcat cactccccaa ggaagagcca atgttttcca cccataatcc
     1561 tttctgccga cccctagttc cctctgctca gccaagcttg ttatcagctt tcagggccat
     1621 ggttcacatt agaataaaag gtagtaatta gaa
//
LOCUS       NM_001025195            1946 bp    mRNA    linear   PRI 08-JUL-2023
DEFINITION  Homo sapiens carboxylesterase 1 (CES1), transcript variant 1, mRNA.
ACCESSION   NM_001025195
VERSION     NM_001025195.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1946)
  AUTHORS   Abdrakhmanov A, Akilzhanova A, Shaimerdinova A, Zhalbinova M,
            Tuyakova G, Abildinova S, Albayev R, Ainabekova B, Chinybayeva A,
            Suleimen Z and Bekbossynova M.
  TITLE     The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in
            Kazakhstani Patients with Atrial Fibrillation Treated with DOAC
  JOURNAL   Genes (Basel) 14 (6), 1192 (2023)
   PUBMED   37372371
  REMARK    GeneRIF: The Distribution of the Genotypes of ABCB1 and CES1
            Polymorphisms in Kazakhstani Patients with Atrial Fibrillation
            Treated with DOAC. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1946)
  AUTHORS   Her L, Shi J, Wang X, He B, Smith LS, Jiang H and Zhu HJ.
  TITLE     Identification of regulatory variants of carboxylesterase 1 (CES1):
            A proof-of-concept study for the application of the Allele-Specific
            Protein Expression (ASPE) assay in identifying cis-acting regulatory
            genetic polymorphisms
  JOURNAL   Proteomics 23 (1), e2200176 (2023)
   PUBMED   36413357
  REMARK    GeneRIF: Identification of regulatory variants of carboxylesterase 1
            (CES1): A proof-of-concept study for the application of the
            Allele-Specific Protein Expression (ASPE) assay in identifying
            cis-acting regulatory genetic polymorphisms.
REFERENCE   3  (bases 1 to 1946)
  AUTHORS   Ikonnikova A, Kazakov R, Rodina T, Dmitriev A, Melnikov E,
            Zasedatelev A and Nasedkina T.
  TITLE     The Influence of Structural Variants of the CES1 Gene on the
            Pharmacokinetics of Enalapril, Presumably Due to Linkage
            Disequilibrium with the Intronic rs2244613
  JOURNAL   Genes (Basel) 13 (12), 2225 (2022)
   PUBMED   36553492
  REMARK    GeneRIF: The Influence of Structural Variants of the CES1 Gene on
            the Pharmacokinetics of Enalapril, Presumably Due to Linkage
            Disequilibrium with the Intronic rs2244613. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 1946)
  AUTHORS   Li G, Li X, Yang L, Wang S, Dai Y, Fekry B, Veillon L, Tan L,
            Berdeaux R, Eckel-Mahan K, Lorenzi PL, Zhao Z, Lehner R and Sun K.
  TITLE     Adipose tissue-specific ablation of Ces1d causes metabolic
            dysregulation in mice
  JOURNAL   Life Sci Alliance 5 (8), e202101209 (2022)
   PUBMED   35459739
  REMARK    GeneRIF: Adipose tissue-specific ablation of Ces1d causes metabolic
            dysregulation in mice. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1946)
  AUTHORS   Collins JM, Lu R, Wang X, Zhu HJ and Wang D.
  TITLE     Transcriptional Regulation of Carboxylesterase 1 in Human Liver:
            Role of the Nuclear Receptor Subfamily 1 Group H Member 3 and Its
            Splice Isoforms
  JOURNAL   Drug Metab Dispos 50 (1), 43-48 (2022)
   PUBMED   34697082
  REMARK    GeneRIF: Transcriptional Regulation of Carboxylesterase 1 in Human
            Liver: Role of the Nuclear Receptor Subfamily 1 Group H Member 3 and
            Its Splice Isoforms.
REFERENCE   6  (bases 1 to 1946)
  AUTHORS   Riddles PW, Richards LJ, Bowles MR and Pond SM.
  TITLE     Cloning and analysis of a cDNA encoding a human liver
            carboxylesterase
  JOURNAL   Gene 108 (2), 289-292 (1991)
   PUBMED   1748313
REFERENCE   7  (bases 1 to 1946)
  AUTHORS   Munger JS, Shi GP, Mark EA, Chin DT, Gerard C and Chapman HA.
  TITLE     A serine esterase released by human alveolar macrophages is closely
            related to liver microsomal carboxylesterases
  JOURNAL   J Biol Chem 266 (28), 18832-18838 (1991)
   PUBMED   1918003
REFERENCE   8  (bases 1 to 1946)
  AUTHORS   Zschunke F, Salmassi A, Kreipe H, Buck F, Parwaresch MR and Radzun
            HJ.
  TITLE     cDNA cloning and characterization of human monocyte/macrophage
            serine esterase-1
  JOURNAL   Blood 78 (2), 506-512 (1991)
   PUBMED   2070086
REFERENCE   9  (bases 1 to 1946)
  AUTHORS   Long RM, Calabrese MR, Martin BM and Pohl LR.
  TITLE     Cloning and sequencing of a human liver carboxylesterase isoenzyme
  JOURNAL   Life Sci 48 (11), PL43-PL49 (1991)
   PUBMED   1997784
REFERENCE   10  (bases 1 to 1946)
  AUTHORS   Ketterman AJ, Bowles MR and Pond SM.
  TITLE     Purification and characterization of two human liver
            carboxylesterases
  JOURNAL   Int J Biochem 21 (12), 1303-1312 (1989)
   PUBMED   2612723
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L07764.1, AK292209.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000360526.8/ ENSP00000353720.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU139632.1, CB137639.1,
            L07764.1 and BC012418.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001025195.1.
            Summary: This gene encodes a member of the carboxylesterase large
            family. The family members are responsible for the hydrolysis or
            transesterification of various xenobiotics, such as cocaine and
            heroin, and endogenous substrates with ester, thioester, or amide
            bonds. They may participate in fatty acyl and cholesterol ester
            metabolism, and may play a role in the blood-brain barrier system.
            This enzyme is the major liver enzyme and functions in liver drug
            clearance. Mutations of this gene cause carboxylesterase 1
            deficiency. Three transcript variants encoding three different
            isoforms have been found for this gene. [provided by RefSeq, Jun
            2010].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1946
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.2"
     gene            1..1946
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /note="carboxylesterase 1"
                     /db_xref="GeneID:1066"
                     /db_xref="HGNC:HGNC:1863"
                     /db_xref="MIM:114835"
     CDS             42..1748
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /EC_number="3.1.1.13"
                     /EC_number="3.1.1.1"
                     /EC_number="3.1.1.56"
                     /note="isoform a precursor is encoded by transcript variant
                     1; cholesteryl ester hydrolase; human monocyte/macrophage
                     serine esterase 1; carboxylesterase 1 (monocyte/macrophage
                     serine esterase 1); liver carboxylesterase 1; egasyn; acyl
                     coenzyme A:cholesterol acyltransferase; triacylglycerol
                     hydrolase; carboxylesterase 2 (liver); retinyl ester
                     hydrolase; cocaine carboxylesterase; brain carboxylesterase
                     hBr1; methylumbelliferyl-acetate deacetylase 1"
                     /codon_start=1
                     /product="liver carboxylesterase 1 isoform a precursor"
                     /protein_id="NP_001020366.1"
                     /db_xref="CCDS:CCDS32450.1"
                     /db_xref="GeneID:1066"
                     /db_xref="HGNC:HGNC:1863"
                     /db_xref="MIM:114835"
                     /translation="MWLRAFILATLSASAAWAGHPSSPPVVDTVHGKVLGKFVSLEGFA
                     QPVAIFLGIPFAKPPLGPLRFTPPQPAEPWSFVKNATSYPPMCTQDPKAGQLLSELFTN
                     RKENIPLKLSEDCLYLNIYTPADLTKKNRLPVMVWIHGGGLMVGAASTYDGLALAAHEN
                     VVVVTIQYRLGIWGFFSTGDEHSRGNWGHLDQVAALRWVQDNIASFGGNPGSVTIFGES
                     AGGESVSVLVLSPLAKNLFHRAISESGVALTSVLVKKGDVKPLAEQIAITAGCKTTTSA
                     VMVHCLRQKTEEELLETTLKMKFLSLDLQGDPRESQPLLGTVIDGMLLLKTPEELQAER
                     NFHTVPYMVGINKQEFGWLIPMQLMSYPLSEGQLDQKTAMSLLWKSYPLVCIAKELIPE
                     ATEKYLGGTDDTVKKKDLFLDLIADVMFGVPSVIVARNHRDAGAPTYMYEFQYRPSFSS
                     DMKPKTVIGDHGDELFSVFGAPFLKEGASEEEIRLSKMVMKFWANFARNGNPNGEGLPH
                     WPEYNQKEGYLQIGANTQAAQKLKDKEVAFWTNLFAKKAVEKPPQTEHIEL"
     sig_peptide     42..95
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     96..1745
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /product="liver carboxylesterase 1 isoform a"
     misc_feature    279..281
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:12022871; propagated from
                     UniProtKB/Swiss-Prot (P23141.2); glycosylation site"
     misc_feature    1182..1184
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P23141.2); phosphorylation site"
     regulatory      1922..1927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /note="hexamer: AATAAA"
     polyA_site      1946
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /note="major polyA site"
ORIGIN
        1 acagagacct cgcaggcccc gagaactgtc gcccttccac gatgtggctc cgtgccttta
       61 tcctggccac tctctctgct tccgcggctt gggcagggca tccgtcctcg ccacctgtgg
      121 tggacaccgt gcatggcaaa gtgctgggga agttcgtcag cttagaagga tttgcacagc
      181 ctgtggccat tttcctggga atcccttttg ccaagccgcc tcttggaccc ctgaggttta
      241 ctccaccgca gcctgcagaa ccatggagct ttgtgaagaa tgccacctcg taccctccta
      301 tgtgcaccca agatcccaag gcggggcagt tactctcaga gctatttaca aaccgaaagg
      361 agaacattcc tctcaagctt tctgaagact gtctttacct caatatttac actcctgctg
      421 acttgaccaa gaaaaacagg ctgccggtga tggtgtggat ccacggaggg gggctgatgg
      481 tgggtgcggc atcaacctat gatgggctgg cccttgctgc ccatgaaaac gtggtggtgg
      541 tgaccattca atatcgcctg ggcatctggg gattcttcag cacaggggat gaacacagcc
      601 gggggaactg gggtcacctg gaccaggtgg ctgccctgcg ctgggtccag gacaacattg
      661 ccagctttgg agggaaccca ggctctgtga ccatctttgg agagtcagcg ggaggagaaa
      721 gtgtctctgt tcttgttttg tctccattgg ccaagaacct cttccaccgg gccatttctg
      781 agagtggcgt ggccctcact tctgttctgg tgaagaaagg tgatgtcaag cccttggctg
      841 agcaaattgc tatcactgct gggtgcaaaa ccaccacctc tgctgtcatg gttcactgcc
      901 tgcgacagaa gacggaagag gagctcttgg agacgacatt gaaaatgaaa ttcttatctc
      961 tggacttaca gggagacccc agagagagtc aaccccttct gggcactgtg attgatggga
     1021 tgctgctgct gaaaacacct gaagagcttc aagctgaaag gaatttccac actgtcccct
     1081 acatggtcgg aattaacaag caggagtttg gctggttgat tccaatgcag ttgatgagct
     1141 atccactctc cgaagggcaa ctggaccaga agacagccat gtcactcctg tggaagtcct
     1201 atccccttgt ttgcattgct aaggaactga ttccagaagc cactgagaaa tacttaggag
     1261 gaacagacga cactgtcaaa aagaaagacc tgttcctgga cttgatagca gatgtgatgt
     1321 ttggtgtccc atctgtgatt gtggcccgga accacagaga tgctggagca cccacctaca
     1381 tgtatgagtt tcagtaccgt ccaagcttct catcagacat gaaacccaag acggtgatag
     1441 gagaccacgg ggatgagctc ttctccgtct ttggggcccc atttttaaaa gagggtgcct
     1501 cagaagagga gatcagactt agcaagatgg tgatgaaatt ctgggccaac tttgctcgca
     1561 atggaaaccc caatggggaa gggctgcccc actggccaga gtacaaccag aaggaagggt
     1621 atctgcagat tggtgccaac acccaggcgg cccagaagct gaaggacaaa gaagtagctt
     1681 tctggaccaa cctctttgcc aagaaggcag tggagaagcc accccagaca gaacacatag
     1741 agctgtgaat gaagatccag ccggccttgg gagcctggag gagcaaagac tggggtcttt
     1801 tgcgaaaggg attgcaggtt cagaaggcat cttaccatgg ctggggaatt gtctggtggt
     1861 ggggggcagg ggacagaggc catgaaggag caagttttgt atttgtgacc tcagctttgg
     1921 gaataaagga tcttttgaag gccaaa
//
LOCUS       NM_001025200             870 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens chymotrypsinogen B2 (CTRB2), mRNA.
ACCESSION   NM_001025200
VERSION     NM_001025200.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 870)
  AUTHORS   Nemeth BZ, Demcsak A, Micsonai A, Kiss B, Schlosser G, Geisz A,
            Hegyi E, Sahin-Toth M and Pal G.
  TITLE     Arg236 in human chymotrypsin B2 (CTRB2) is a key determinant of high
            enzyme activity, trypsinogen degradation capacity, and protection
            against pancreatitis
  JOURNAL   Biochim Biophys Acta Proteins Proteom 1870 (9), 140831 (2022)
   PUBMED   35934298
  REMARK    GeneRIF: Arg236 in human chymotrypsin B2 (CTRB2) is a key
            determinant of high enzyme activity, trypsinogen degradation
            capacity, and protection against pancreatitis.
REFERENCE   2  (bases 1 to 870)
  AUTHORS   Jermusyk A, Zhong J, Connelly KE, Gordon N, Perera S, Abdolalizadeh
            E, Zhang T, O'Brien A, Hoskins JW, Collins I, Eiser D, Yuan C, Risch
            HA, Jacobs EJ, Li D, Du M, Stolzenberg-Solomon RZ, Klein AP, Smith
            JP, Wolpin BM, Chanock SJ, Shi J, Petersen GM, Westlake CJ and
            Amundadottir LT.
  CONSRTM   PanScan Consortium; PanC4 Consortium
  TITLE     A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and
            secretion and confers risk of pancreatic cancer
  JOURNAL   Am J Hum Genet 108 (10), 1852-1865 (2021)
   PUBMED   34559995
  REMARK    GeneRIF: A 584 bp deletion in CTRB2 inhibits chymotrypsin B2
            activity and secretion and confers risk of pancreatic cancer.
REFERENCE   3  (bases 1 to 870)
  AUTHORS   Seltsam K, Pentner C, Weigl F, Sutedjo S, Zimmer C, Beer S, Bugert
            P, Ewers M, Ruffert C, Michl P, Laumen H, Witt H and Rosendahl J.
  TITLE     Sequencing of the complex CTRB1-CTRB2 locus in chronic pancreatitis
  JOURNAL   Pancreatology 20 (8), 1598-1603 (2020)
   PUBMED   33036922
  REMARK    GeneRIF: Sequencing of the complex CTRB1-CTRB2 locus in chronic
            pancreatitis.
REFERENCE   4  (bases 1 to 870)
  AUTHORS   Rosendahl J, Kirsten H, Hegyi E, Kovacs P, Weiss FU, Laumen H,
            Lichtner P, Ruffert C, Chen JM, Masson E, Beer S, Zimmer C, Seltsam
            K, Algul H, Buhler F, Bruno MJ, Bugert P, Burkhardt R, Cavestro GM,
            Cichoz-Lach H, Farre A, Frank J, Gambaro G, Gimpfl S, Grallert H,
            Griesmann H, Grutzmann R, Hellerbrand C, Hegyi P, Hollenbach M,
            Iordache S, Jurkowska G, Keim V, Kiefer F, Krug S, Landt O, Leo MD,
            Lerch MM, Levy P, Loffler M, Lohr M, Ludwig M, Macek M, Malats N,
            Malecka-Panas E, Malerba G, Mann K, Mayerle J, Mohr S, Te Morsche
            RHM, Motyka M, Mueller S, Muller T, Nothen MM, Pedrazzoli S, Pereira
            SP, Peters A, Pfutzer R, Real FX, Rebours V, Ridinger M, Rietschel
            M, Rosmann E, Saftoiu A, Schneider A, Schulz HU, Soranzo N, Soyka M,
            Simon P, Skipworth J, Stickel F, Strauch K, Stumvoll M, Testoni PA,
            Tonjes A, Werner L, Werner J, Wodarz N, Ziegler M, Masamune A,
            Mossner J, Ferec C, Michl P, P H Drenth J, Witt H, Scholz M and
            Sahin-Toth M.
  CONSRTM   all members of the PanEuropean Working group on ACP
  TITLE     Genome-wide association study identifies inversion in the
            CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic
            chronic pancreatitis
  JOURNAL   Gut 67 (10), 1855-1863 (2018)
   PUBMED   28754779
  REMARK    GeneRIF: An inversion in the CTRB1-CTRB2 locus modifies risk for
            Alcoholic and Non-alcoholic Chronic Pancreatitis indicating that
            common pathomechanisms are involved in these inflammatory disorders.
REFERENCE   5  (bases 1 to 870)
  AUTHORS   Tang XY, Zou WB, Masson E, Hu LH, Ferec C, Chen JM, Li ZS and Liao
            Z.
  TITLE     The CTRB1-CTRB2 risk allele for chronic pancreatitis discovered in
            European populations does not contribute to disease risk variation
            in the Chinese population due to near allele fixation
  JOURNAL   Gut 67 (7), 1368-1369 (2018)
   PUBMED   28951524
REFERENCE   6  (bases 1 to 870)
  AUTHORS   Wolpin BM, Rizzato C, Kraft P, Kooperberg C, Petersen GM, Wang Z,
            Arslan AA, Beane-Freeman L, Bracci PM, Buring J, Canzian F, Duell
            EJ, Gallinger S, Giles GG, Goodman GE, Goodman PJ, Jacobs EJ,
            Kamineni A, Klein AP, Kolonel LN, Kulke MH, Li D, Malats N, Olson
            SH, Risch HA, Sesso HD, Visvanathan K, White E, Zheng W, Abnet CC,
            Albanes D, Andreotti G, Austin MA, Barfield R, Basso D, Berndt SI,
            Boutron-Ruault MC, Brotzman M, Buchler MW, Bueno-de-Mesquita HB,
            Bugert P, Burdette L, Campa D, Caporaso NE, Capurso G, Chung C,
            Cotterchio M, Costello E, Elena J, Funel N, Gaziano JM, Giese NA,
            Giovannucci EL, Goggins M, Gorman MJ, Gross M, Haiman CA, Hassan M,
            Helzlsouer KJ, Henderson BE, Holly EA, Hu N, Hunter DJ, Innocenti F,
            Jenab M, Kaaks R, Key TJ, Khaw KT, Klein EA, Kogevinas M, Krogh V,
            Kupcinskas J, Kurtz RC, LaCroix A, Landi MT, Landi S, Le Marchand L,
            Mambrini A, Mannisto S, Milne RL, Nakamura Y, Oberg AL, Owzar K,
            Patel AV, Peeters PH, Peters U, Pezzilli R, Piepoli A, Porta M, Real
            FX, Riboli E, Rothman N, Scarpa A, Shu XO, Silverman DT, Soucek P,
            Sund M, Talar-Wojnarowska R, Taylor PR, Theodoropoulos GE,
            Thornquist M, Tjonneland A, Tobias GS, Trichopoulos D, Vodicka P,
            Wactawski-Wende J, Wentzensen N, Wu C, Yu H, Yu K,
            Zeleniuch-Jacquotte A, Hoover R, Hartge P, Fuchs C, Chanock SJ,
            Stolzenberg-Solomon RS and Amundadottir LT.
  TITLE     Genome-wide association study identifies multiple susceptibility
            loci for pancreatic cancer
  JOURNAL   Nat Genet 46 (9), 994-1000 (2014)
   PUBMED   25086665
REFERENCE   7  (bases 1 to 870)
  AUTHORS   Hou DX, Ozawa K, Tomita N, Maeda Y, Hashiguchi T, Yokoyama K and
            Soeda E.
  TITLE     Genomic cloning and partial characterization of human
            chymotrypsinogen gene
  JOURNAL   Jpn J Hum Genet 38 (4), 371-380 (1993)
   PUBMED   8186414
REFERENCE   8  (bases 1 to 870)
  AUTHORS   Tomita N, Izumoto Y, Horii A, Doi S, Yokouchi H, Ogawa M, Mori T and
            Matsubara K.
  TITLE     Molecular cloning and nucleotide sequence of human pancreatic
            prechymotrypsinogen cDNA
  JOURNAL   Biochem Biophys Res Commun 158 (2), 569-575 (1989)
   PUBMED   2917002
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK225933.1, AK291822.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142586,
            SAMEA2145245 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000303037.13/ ENSP00000303963.8
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK225933.1.
            On Nov 22, 2018 this sequence version replaced NM_001025200.3.
            Summary: This gene encodes a member of the serine protease family
            of enzymes and forms a principal precursor of the pancreatic
            proteolytic enzymes. The encoded preproprotein is synthesized in
            the acinar cells of the pancreas and secreted into the small
            intestine where it undergoes proteolytic activation to generate a
            functional enzyme. This CTRB2 gene is located head-to-head with the
            related CTRB1 gene. Some human populations have an alternate
            haplotype which inverts a 16.6 Kb region containing portions of
            intron 1, exon 1, and the upstream sequence of the CTRB1 and CTRB2
            genes. In this inversion haplotype exon 1 and flanking sequence is
            swapped in CTRB1 and CTRB2. This inversion is associated with
            differential gene expression and increased risk for chronic
            pancreatitis. The GRCh38 assembly represents the minor allele for
            SNP rs8048956 of the CTRB1 gene. SNP rs8048956 is diagnostic for
            this inversion. [provided by RefSeq, Jan 2021].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..870
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q23.1"
     gene            1..870
                     /gene="CTRB2"
                     /note="chymotrypsinogen B2"
                     /db_xref="GeneID:440387"
                     /db_xref="HGNC:HGNC:2522"
                     /db_xref="MIM:619620"
     CDS             21..812
                     /gene="CTRB2"
                     /EC_number="3.4.21.1"
                     /note="chymotrypsin B2"
                     /codon_start=1
                     /product="chymotrypsinogen B2 precursor"
                     /protein_id="NP_001020371.3"
                     /db_xref="CCDS:CCDS32489.1"
                     /db_xref="GeneID:440387"
                     /db_xref="HGNC:HGNC:2522"
                     /db_xref="MIM:619620"
                     /translation="MAFLWLLSCWALLGTTFGCGVPAIHPVLSGLSRIVNGEDAVPGSW
                     PWQVSLQDKTGFHFCGGSLISEDWVVTAAHCGVRTSDVVVAGEFDQGSDEENIQVLKIA
                     KVFKNPKFSILTVNNDITLLKLATPARFSQTVSAVCLPSADDDFPAGTLCATTGWGKTK
                     YNANKTPDKLQQAALPLLSNAECKKSWGRRITDVMICAGASGVSSCMGDSGGPLVCQKD
                     GAWTLVGIVSWGSRTCSTTTPAVYARVAKLIPWVQKILAAN"
     sig_peptide     21..74
                     /gene="CTRB2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     75..809
                     /gene="CTRB2"
                     /product="Chymotrypsinogen B2. /id=PRO_0000285870"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GPI1.2)"
     mat_peptide     75..113
                     /gene="CTRB2"
                     /product="Chymotrypsin B2 chain A. /id=PRO_0000285871"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GPI1.2)"
     mat_peptide     120..512
                     /gene="CTRB2"
                     /product="Chymotrypsin B2 chain B. /id=PRO_0000285872"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GPI1.2)"
     mat_peptide     519..809
                     /gene="CTRB2"
                     /product="Chymotrypsin B2 chain C. /id=PRO_0000285873"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6GPI1.2)"
     misc_feature    21..812
                     /gene="CTRB2"
                     /product="Chymotrypsinogen B precursor variant"
     regulatory      850..855
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTRB2"
                     /note="hexamer: ATTAAA"
     polyA_site      870
                     /gene="CTRB2"
                     /note="major polyA site"
ORIGIN
        1 acacccctgc cagcggcacc atggctttcc tctggctcct ctcctgctgg gccctcctgg
       61 gtaccacctt cggctgcggg gtccccgcca tccaccctgt gctcagcggc ctgtccagga
      121 tcgtgaatgg ggaggacgcc gtccccggct cctggccctg gcaggtgtcc ctgcaggaca
      181 aaaccggctt ccacttctgc gggggctccc tcatcagcga ggactgggtg gtcaccgctg
      241 cccactgcgg ggtcaggacc tccgacgtgg tcgtggctgg ggagtttgac cagggctctg
      301 acgaggagaa catccaggtc ctgaagatcg ccaaggtctt caagaacccc aagttcagca
      361 ttctgaccgt gaacaatgac atcaccctgc tgaagctggc cacacctgcc cgcttctccc
      421 agacagtgtc cgccgtgtgc ctgcccagcg ccgacgacga cttccccgcg gggacactgt
      481 gtgccaccac aggctggggc aagaccaagt acaacgccaa caagacccct gacaagctgc
      541 agcaggcagc cctgcccctc ctgtccaatg ccgaatgcaa gaagtcctgg ggcaggagga
      601 tcaccgacgt gatgatctgt gccggggcca gtggcgtctc ctcctgcatg ggtgactctg
      661 gaggccccct ggtctgccag aaggacggag cctggaccct ggtgggcatt gtgtcctggg
      721 gcagccgcac ctgctctacc accacgcccg ctgtgtacgc ccgtgtcgcc aagctcatac
      781 cctgggtgca gaagatcctg gccgccaact gagcccgcag ctcctgccac ccctgcctta
      841 agatttccca ttaaatgcat ctgtttagaa
//
LOCUS       NM_001025231            2531 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens keratinocyte proline rich protein (KPRP), mRNA.
ACCESSION   NM_001025231
VERSION     NM_001025231.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2531)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2531)
  AUTHORS   Suga H, Oka T, Sugaya M, Sato Y, Ishii T, Nishida H, Ishikawa S,
            Fukayama M and Sato S.
  TITLE     Keratinocyte Proline-Rich Protein Deficiency in Atopic Dermatitis
            Leads to Barrier Disruption
  JOURNAL   J Invest Dermatol 139 (9), 1867-1875 (2019)
   PUBMED   30905808
  REMARK    GeneRIF: By allelic copy number analysis at missense
            single-nucleotide polymorphisms on 26 genes with copy number
            variation, study identified a significant association between atopic
            dermatitis and human KPRP. Human KPRP expression, which was
            localized to the upper granular layer of epidermis, was
            significantly decreased in atopic dermatitis compared with normal
            skin.
REFERENCE   3  (bases 1 to 2531)
  AUTHORS   Lee WH, Jang S, Lee JS, Lee Y, Seo EY, You KH, Lee SC, Nam KI, Kim
            JM, Kee SH, Yang JM, Seo YJ, Park JK, Kim CD and Lee JH.
  TITLE     Molecular cloning and expression of human keratinocyte proline-rich
            protein (hKPRP), an epidermal marker isolated from calcium-induced
            differentiating keratinocytes
  JOURNAL   J Invest Dermatol 125 (5), 995-1000 (2005)
   PUBMED   16297201
  REMARK    GeneRIF: A human gene encoding keratinocyte proline-rich protein
            (hKPRP), an epidermal marker expressed in stratified squamous
            epithelia, has a potential role in keratinocytes differentiation.
COMMENT     ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000606109.2/ ENSP00000475216.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL353779.11.
            This sequence is a reference standard in the RefSeqGene project.
            On May 25, 2021 this sequence version replaced NM_001025231.2.
            Summary: This gene encodes a proline-rich skin protein possibly
            involved in keratinocyte differentiation. [provided by RefSeq, Jul
            2016].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2531
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..2531
                     /gene="KPRP"
                     /gene_synonym="C1orf45"
                     /note="keratinocyte proline rich protein"
                     /db_xref="GeneID:448834"
                     /db_xref="HGNC:HGNC:31823"
                     /db_xref="MIM:613260"
     misc_feature    28..30
                     /gene="KPRP"
                     /gene_synonym="C1orf45"
                     /note="upstream in-frame stop codon"
     CDS             64..1803
                     /gene="KPRP"
                     /gene_synonym="C1orf45"
                     /note="keratinocyte expressed, proline-rich protein"
                     /codon_start=1
                     /product="keratinocyte proline-rich protein"
                     /protein_id="NP_001020402.1"
                     /db_xref="CCDS:CCDS30862.1"
                     /db_xref="GeneID:448834"
                     /db_xref="HGNC:HGNC:31823"
                     /db_xref="MIM:613260"
                     /translation="MCDQQQIQCRLPLQQCCVKGPSFCSSQSPFAQSQVVVQAPCEMQI
                     VDCPASCPVQVCQVSDQAPCQSQTTQVKCQSKTKQVKGQAQCQSKTTQVKGQAASQSQT
                     SSVQSQAPCQSEVSYVQCEASQPVQTCFVECAPVCYTETCYVECPVQNYVPCPAPQPVQ
                     MYRGRPAVCQPQGRFSTQCQYQGSYSSCGPQFQSRATCNNYTPQFQLRPSYSSCFPQYR
                     SRTSFSPCVPQCQTQGSYGSFTEQHRSRSTSRCLPPPRRLQLFPRSCSPPRRFEPCSSS
                     YLPLRPSEGFPNYCTPPRRSEPIYNSRCPRRPISSCSQRRGPKCRIEISSPCCPRQVPP
                     QRCPVEIPPIRRRSQSCGPQPSWGASCPELRPHVEPRPLPSFCPPRRLDQCPESPLQRC
                     PPPAPRPRLRPEPCISLEPRPRPLPRQLSEPCLYPEPLPALRPTPRPVPLPRPGQCEIP
                     EPRPCLQPCEHPEPCPRPEPIPLPAPCPSPEPCRETWRSPSPCWGPNPVPYPGDLGCHE
                     SSPHRLDTEAPYCGPSSYNQGQESGAGCGPGDVFPERRGQDGHGDQGNAFAGVKGEAKS
                     AYF"
     misc_feature    1243..1245
                     /gene="KPRP"
                     /gene_synonym="C1orf45"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q5T749.1); phosphorylation site"
     misc_feature    1639..1800
                     /gene="KPRP"
                     /gene_synonym="C1orf45"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T749.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2506..2511
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KPRP"
                     /gene_synonym="C1orf45"
                     /note="hexamer: AATAAA"
     polyA_site      2527
                     /gene="KPRP"
                     /gene_synonym="C1orf45"
                     /note="major polyA site"
ORIGIN
        1 gcctcagcct gaaggactgc ttgcctgtga ggagggtcac tcttgactgg ctgcatcagg
       61 accatgtgtg accagcagca gatccagtgc cgcctgccgc tccaacagtg ctgcgtcaag
      121 ggtccctcct tctgctcctc tcaatccccc tttgcccaga gccaagtggt ggttcaagcc
      181 ccttgtgaga tgcaaattgt ggactgccct gcatcatgcc cagttcaagt ttgccaggtg
      241 tcagaccagg ctccatgcca gtctcagacc acacaggtga agtgccagtc taagaccaag
      301 caggtgaagg gccaggctca atgtcagtct aagaccaccc aggtgaaggg ccaggctgca
      361 tcccaatctc aaacttcctc tgttcaaagc caggctccat gccaatctga ggtgtcctac
      421 gtgcagtgcg aagcgtcaca acctgttcag acttgcttcg tagaatgtgc tccagtttgt
      481 tatacagaaa cttgttatgt agaatgccca gtccagaact atgtaccctg tccagctcct
      541 cagcctgtcc agatgtatag agggcgtcct gcagtgtgcc agcctcaggg aagattctcc
      601 acccagtgcc agtatcaagg ctcctatagc agttgtggcc cccagtttca gtcaagggct
      661 acctgcaaca actacacccc ccagttccag ttgaggcctt cctacagcag ctgtttccct
      721 cagtatcggt cccggacttc atttagtccc tgtgtgcccc agtgccagac ccagggctcc
      781 tatgggagct tcactgaaca gcaccgctct cggagcacca gcagatgcct tcctcctcct
      841 cggcggctgc agcttttccc ccgcagctgt tccccaccaa gacgttttga gccctgctcc
      901 agcagctacc tgccactaag accctctgaa ggtttcccta actactgcac cccaccccgc
      961 cgctctgaac ccatatataa cagtcgctgt cctcgccgcc ccatttcaag ctgctctcag
     1021 agacgtggcc ccaagtgccg aatcgagatt tcctccccgt gctgccccag gcaggttccc
     1081 ccacagaggt gtcctgttga gattcctccc atcagacgcc gctcccagag ctgtggcccg
     1141 cagccctcct ggggcgcctc ctgccctgag ctgaggccac acgtagagcc acgtccactc
     1201 ccaagcttct gtccaccacg gcgtcttgac cagtgtccag agtcaccact gcagcgatgt
     1261 ccacctcctg ctccacgtcc acgtctgcgc ccagaaccat gcataagtct agaaccacgc
     1321 ccgcgtcctc taccacgaca actttcagaa ccttgtttgt atccagaacc acttccagca
     1381 ctacgtccaa caccgcggcc agttcccctt cctcgcccag ggcagtgtga gattccagag
     1441 ccacgtccat gcctgcagcc ctgtgagcac ccagagcctt gtccacgacc agagccaatt
     1501 cccctgccgg cgccctgccc aagcccggag ccctgcaggg agacttggcg cagccccagc
     1561 ccatgctggg gcccaaatcc agttccatac ccaggagacc taggctgtca tgagtctagt
     1621 ccacaccgcc tagacaccga agctccctac tgtggcccat ccagttacaa ccaggggcaa
     1681 gagagtggtg ctggctgtgg gcctggtgat gtgtttccag agcggagggg tcaggatggc
     1741 catggagacc aaggcaatgc ctttgctgga gtgaaagggg aagcaaagag tgcttatttt
     1801 taaaggaaag gtgactgaga taaccctctc tcctgctctg aaaatgttgt tcctcctatt
     1861 ccacaatttc cagtacgctc ttgtttgaat ctctccaaag atattcagag actccctatt
     1921 acgaaggtga tgtccaaact cctttgccta tcatccaaag atccacacct gggtctcaga
     1981 tgcctctcca gcctcacgtg tcactcctcg cccgtacgca tcctcggctc tagccagacc
     2041 agtctggcca ctgggcacag cttgggtgtt ccccaggcca tactttagat gtccctgcct
     2101 ccaagcctct gctcactctt ccccactctg cctggaccac ttctctcctc ctccccagct
     2161 tctgaaatcc accccatctt tcagtgcctc tcccttggag ccttctttgc ttgttcccac
     2221 tcacaagaac ctgtgccgac ttcctagaac tcactgcatc ccccgcacta cttggtaact
     2281 gcctggtgac atctcttgaa ttgttatttc actttgcagg catgtcttcc ttatctgccc
     2341 aactaggttg taaactccca actgagtgga gtcggagaat ctctaaatct cagtgtctat
     2401 cctggggctg gctgttgctt agcaaggctt gtgggttggc agcttgaacc atgttctgtc
     2461 ctgatgctca actgcaggaa ctgaggtgag aggaggccat gtgacaataa agatcattat
     2521 gtactcactg c
//
LOCUS       NM_001025248            2141 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens deoxyuridine triphosphatase (DUT), transcript variant
            1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001025248
VERSION     NM_001025248.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2141)
  AUTHORS   Racz GA, Nagy N, Varady G, Tovari J, Apati A and Vertessy BG.
  TITLE     Discovery of two new isoforms of the human DUT gene
  JOURNAL   Sci Rep 13 (1), 7760 (2023)
   PUBMED   37173337
  REMARK    GeneRIF: Discovery of two new isoforms of the human DUT gene.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2141)
  AUTHORS   Wang Y, Gao S, Chen L, Liu S, Ma J, Cao Z and Li Q.
  TITLE     DUT enhances drug resistance to proteasome inhibitors via promoting
            mitochondrial function in multiple myeloma
  JOURNAL   Carcinogenesis 43 (11), 1030-1038 (2022)
   PUBMED   36426924
  REMARK    GeneRIF: DUT enhances drug resistance to proteasome inhibitors via
            promoting mitochondrial function in multiple myeloma.
REFERENCE   3  (bases 1 to 2141)
  AUTHORS   Szabo JE, Nyiri K, Andrasi D, Matejka J, Ozohanics O and Vertessy B.
  TITLE     Redox status of cysteines does not alter functional properties of
            human dUTPase but the Y54C mutation involved in monogenic diabetes
            decreases protein stability
  JOURNAL   Sci Rep 11 (1), 19197 (2021)
   PUBMED   34584184
  REMARK    GeneRIF: Redox status of cysteines does not alter functional
            properties of human dUTPase but the Y54C mutation involved in
            monogenic diabetes decreases protein stability. Erratum:[Sci Rep.
            2021 Oct 29;11(1):21666. PMID: 34716399] Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 2141)
  AUTHORS   Ye F, Wang H, Liu J, Cheng Q, Chen X and Chen H.
  TITLE     Genetic variants of the dUTPase-encoding gene DUT increase HR-HPV
            infection rate and cervical squamous cell carcinoma risk
  JOURNAL   Sci Rep 9 (1), 513 (2019)
   PUBMED   30679536
  REMARK    GeneRIF: These findings suggested that the homozygous GG allele of
            rs3784619 and the TT allele of rs11637235 in the DUT gene
            significantly increased the risk of cervical intraepithelial
            neoplasia III and cervical squamous cell carcinomas. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 2141)
  AUTHORS   Nyiri K, Mertens HDT, Tihanyi B, Nagy GN, Kohegyi B, Matejka J,
            Harris MJ, Szabo JE, Papp-Kadar V, Nemeth-Pongracz V, Ozohanics O,
            Vekey K, Svergun DI, Borysik AJ and Vertessy BG.
  TITLE     Structural model of human dUTPase in complex with a novel
            proteinaceous inhibitor
  JOURNAL   Sci Rep 8 (1), 4326 (2018)
   PUBMED   29531348
  REMARK    GeneRIF: This study reports that the Staphylococcal repressor
            protein StlSaPIBov1 (Stl) forms strong complex with human dUTPase.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2141)
  AUTHORS   Ladner RD, Carr SA, Huddleston MJ, McNulty DE and Caradonna SJ.
  TITLE     Identification of a consensus cyclin-dependent kinase
            phosphorylation site unique to the nuclear form of human
            deoxyuridine triphosphate nucleotidohydrolase
  JOURNAL   J Biol Chem 271 (13), 7752-7757 (1996)
   PUBMED   8631817
REFERENCE   7  (bases 1 to 2141)
  AUTHORS   Ladner RD, McNulty DE, Carr SA, Roberts GD and Caradonna SJ.
  TITLE     Characterization of distinct nuclear and mitochondrial forms of
            human deoxyuridine triphosphate nucleotidohydrolase
  JOURNAL   J Biol Chem 271 (13), 7745-7751 (1996)
   PUBMED   8631816
REFERENCE   8  (bases 1 to 2141)
  AUTHORS   Strahler JR, Zhu XX, Hora N, Wang YK, Andrews PC, Roseman NA, Neel
            JV, Turka L and Hanash SM.
  TITLE     Maturation stage and proliferation-dependent expression of dUTPase
            in human T cells
  JOURNAL   Proc Natl Acad Sci U S A 90 (11), 4991-4995 (1993)
   PUBMED   8389461
REFERENCE   9  (bases 1 to 2141)
  AUTHORS   McIntosh EM, Ager DD, Gadsden MH and Haynes RH.
  TITLE     Human dUTP pyrophosphatase: cDNA sequence and potential biological
            importance of the enzyme
  JOURNAL   Proc Natl Acad Sci U S A 89 (17), 8020-8024 (1992)
   PUBMED   1325640
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1993 May 1;90(9):4328]
REFERENCE   10  (bases 1 to 2141)
  AUTHORS   Babicev,S.I. and Briskin,B.S.
  TITLE     [Method for plastic surgery of the small intestine after the
            resection of the esophagus and proximal portion of the stomach for
            cancer]
  JOURNAL   Rozhl Chir 54 (1), 11-16 (1975)
   PUBMED   1091006
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.76151.1,
            SRR3476690.1142506.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000331200.8/ ENSP00000370376.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF697257.1, BC070339.1,
            AC023355.5 and BI257870.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001025248.1.
            Summary: This gene encodes an essential enzyme of nucleotide
            metabolism. The encoded protein forms a ubiquitous, homotetrameric
            enzyme that hydrolyzes dUTP to dUMP and pyrophosphate. This
            reaction serves two cellular purposes: providing a precursor (dUMP)
            for the synthesis of thymine nucleotides needed for DNA
            replication, and limiting intracellular pools of dUTP. Elevated
            levels of dUTP lead to increased incorporation of uracil into DNA,
            which induces extensive excision repair mediated by uracil
            glycosylase. This repair process, resulting in the removal and
            reincorporation of dUTP, is self-defeating and leads to DNA
            fragmentation and cell death. Alternative splicing of this gene
            leads to different isoforms that localize to either the
            mitochondrion or nucleus. A related pseudogene is located on
            chromosome 19. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1), also known as DUT-M,
            represents the longest transcript. It encodes the longest isoform
            (1), which includes a mitochondrial targeting sequence.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2141
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     gene            1..2141
                     /gene="DUT"
                     /gene_synonym="BMFDMS; dUTPase"
                     /note="deoxyuridine triphosphatase"
                     /db_xref="GeneID:1854"
                     /db_xref="HGNC:HGNC:3078"
                     /db_xref="MIM:601266"
     CDS             88..846
                     /gene="DUT"
                     /gene_synonym="BMFDMS; dUTPase"
                     /EC_number="3.6.1.23"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; dUTP pyrophosphatase; dUTP nucleotidohydrolase;
                     deoxyuridine 5'-triphosphate nucleotidohydrolase,
                     mitochondrial; dUTP diphosphatase"
                     /codon_start=1
                     /product="deoxyuridine 5'-triphosphate nucleotidohydrolase,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_001020419.1"
                     /db_xref="CCDS:CCDS32231.1"
                     /db_xref="GeneID:1854"
                     /db_xref="HGNC:HGNC:3078"
                     /db_xref="MIM:601266"
                     /translation="MTPLCPRPALCYHFLTSLLRSAMQNARGARQRAEAAVLSGPGPPL
                     GRAAQHGIPRPLSSAGRLSQGCRGASTVGAAGWKGELPKAGGSPAPGPETPAISPSKRA
                     RPAEVGGMQLRFARLSEHATAPTRGSARAAGYDLYSAYDYTIPPMEKAVVKTDIQIALP
                     SGCYGRVAPRSGLAAKHFIDVGAGVIDEDYRGNVGVVLFNFGKEKFEVKKGDRIAQLIC
                     ERIFYPEIEEVQALDDTERGSGGFGSTGKN"
     transit_peptide 88..294
                     /gene="DUT"
                     /gene_synonym="BMFDMS; dUTPase"
     misc_feature    118..120
                     /gene="DUT"
                     /gene_synonym="BMFDMS; dUTPase"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:8631817,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P33316.4);
                     phosphorylation site"
     mat_peptide     295..843
                     /gene="DUT"
                     /gene_synonym="BMFDMS; dUTPase"
                     /product="deoxyuridine 5'-triphosphate nucleotidohydrolase,
                     mitochondrial isoform 1"
     misc_feature    319..399
                     /gene="DUT"
                     /gene_synonym="BMFDMS; dUTPase"
                     /note="propagated from UniProtKB/Swiss-Prot (P33316.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    349..351
                     /gene="DUT"
                     /gene_synonym="BMFDMS; dUTPase"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P33316.4);
                     phosphorylation site"
     misc_feature    382..384
                     /gene="DUT"
                     /gene_synonym="BMFDMS; dUTPase"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P33316.4); phosphorylation site"
     regulatory      1160..1165
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DUT"
                     /gene_synonym="BMFDMS; dUTPase"
                     /note="hexamer: ATTAAA"
     polyA_site      1188
                     /gene="DUT"
                     /gene_synonym="BMFDMS; dUTPase"
                     /note="major polyA site"
     regulatory      1305..1310
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DUT"
                     /gene_synonym="BMFDMS; dUTPase"
                     /note="hexamer: AATAAA"
     regulatory      1311..1316
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DUT"
                     /gene_synonym="BMFDMS; dUTPase"
                     /note="hexamer: AATGAA"
     polyA_site      1323
                     /gene="DUT"
                     /gene_synonym="BMFDMS; dUTPase"
     polyA_site      1334
                     /gene="DUT"
                     /gene_synonym="BMFDMS; dUTPase"
     regulatory      2110..2115
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DUT"
                     /gene_synonym="BMFDMS; dUTPase"
                     /note="hexamer: AATAAA"
     polyA_site      2141
                     /gene="DUT"
                     /gene_synonym="BMFDMS; dUTPase"
ORIGIN
        1 gttcccagga cgggcgcgtc ttcagggtgg aagcctggcg cacgtccgga ggtgccgagg
       61 acccaaccag cccaaactct gggggaaatg actcccctct gccctcgccc cgcgctctgc
      121 taccatttcc ttacgtctct gcttcgctca gcgatgcaaa acgcgcgagg cgcacggcag
      181 agggccgaag ccgcggtact ctccgggcca ggcccgcccc tcggccgcgc cgcgcagcac
      241 gggattcccc ggccgctgtc cagcgctggc cgcctgagcc aaggctgccg cggagccagt
      301 acagtcgggg ccgctggctg gaagggcgag cttcctaagg cggggggaag cccggcgccg
      361 gggccggaga cacccgccat ttcacccagt aagcgggccc ggcctgcgga ggtgggcggc
      421 atgcagctcc gctttgcccg gctctccgag cacgccacgg cccccacccg gggctccgcg
      481 cgcgccgcgg gctacgacct gtacagtgcc tatgattaca caataccacc tatggagaaa
      541 gctgttgtga aaacggacat tcagatagcg ctcccttctg ggtgttatgg aagagtggct
      601 ccacggtcag gcttggctgc aaaacacttt attgatgtag gagctggtgt catagatgaa
      661 gattatagag gaaatgttgg tgttgtactg tttaattttg gcaaagaaaa gtttgaagtc
      721 aaaaaaggtg atcgaattgc acagctcatt tgcgaacgga ttttttatcc agaaatagaa
      781 gaagttcaag ccttggatga caccgaaagg ggttcaggag gttttggttc cactggaaag
      841 aattaaaatt tatgccaaga acagaaaaca agaagtcata cctttttctt aaaaaaaaaa
      901 aaaaagtttt tgcttcaagt gttttggtgt tttgcacttc tgtaaactta ctagctttac
      961 cttctaaaag tactgcattt tttacttttt tttatgatca aggaaaagat cattaaaaaa
     1021 aaacacaaag aagtttttct ttgtgtttgg atcaaaaaga aactttgttt ttccgcaatt
     1081 gaaggttgta tgtaaatctg ctttgtggtg acctgatgta aacagtgtct tcttaaaatc
     1141 aaatgtaaat caattacaga ttaaaaaaaa aagcctgtat ttaactcata tgatctccct
     1201 tcagcaactt attttgcttt aattgcttta aatcttaagc aatatttttt attcagtaaa
     1261 caaattcttt cacaaggtac aaaatcttgc ataagctgaa ctaaaataaa aatgaaaagg
     1321 agagattaaa ggtattcctt gttcttccct tctcttcact agtctaaaaa cttcttttta
     1381 atcttaagat tctttgtgat gagggtgaga aaaagaatcc tcagtttatt tttccactat
     1441 taatctttct tttgataaat cctctattga ctgggtagag gtatgtttgt gaaagacatg
     1501 taacttgggg atttgttact ttaggtttgt tcccttgaat ttcatctcat caggcaaatt
     1561 gtactagttg tagttacgag ttttccctca gtgaagtagc aataggctgt aatcaagaaa
     1621 atatgccatt tatagagata agataaatga aataatactt cagccaccag gtttttctgt
     1681 ctcacataca taagcagcat ttcattgcag atatgggact gattctgtgg cttaccttga
     1741 ttaacatctt ttggaagttt tgctagtgtg ctttcctttc tttactatgt ttctcagatt
     1801 cctttgtatc agggttttgg gtgtcactta ggttttgtcc atcagattct gtgagacacc
     1861 aggcatcgtt ttgaggatgt gggttataca catggagtgc ttctggaact atcagcccac
     1921 ttgaccaccc agtttgtgga agcacaggca agagtgttct tttctggtga ttctccaggc
     1981 catttaatac cctgcaatgt aattgtccct ctgtggctca catttcatta gtgagccatg
     2041 aaatcaactc agtgggacat agccagcatt tttgcatacc aggttgggct ataaaatatt
     2101 tctgttgtca ataaatttta aatgttttcc tgctaaacta a
//
LOCUS       NM_001025253            4116 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens tumor protein D52 (TPD52), transcript variant 2, mRNA.
ACCESSION   NM_001025253
VERSION     NM_001025253.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4116)
  AUTHORS   Liu S, Hu C, Li M, Zhou W, Wang R and Xiao Y.
  TITLE     Androgen receptor suppresses lung cancer invasion and increases
            cisplatin response via decreasing TPD52 expression
  JOURNAL   Int J Biol Sci 19 (12), 3709-3725 (2023)
   PUBMED   37564195
  REMARK    GeneRIF: Androgen receptor suppresses lung cancer invasion and
            increases cisplatin response via decreasing TPD52 expression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4116)
  AUTHORS   Chen Y, Peng C, Tan W, Yu J, Zayas J, Peng Y, Lou Z, Pei H and Wang
            L.
  TITLE     Tumor protein D52 (TPD52) affects cancer cell metabolism by
            negatively regulating AMPK
  JOURNAL   Cancer Med 12 (1), 488-499 (2023)
   PUBMED   35666017
  REMARK    GeneRIF: Tumor protein D52 (TPD52) affects cancer cell metabolism by
            negatively regulating AMPK.
REFERENCE   3  (bases 1 to 4116)
  AUTHORS   Shi Q, Ma Y, Zhang X and Yin C.
  TITLE     Circ_0060551 promotes the migration and invasion of cervical cancer
            by upregulating TPD52
  JOURNAL   Am J Reprod Immunol 88 (3), e13586 (2022)
   PUBMED   35716110
  REMARK    GeneRIF: Circ_0060551 promotes the migration and invasion of
            cervical cancer by upregulating TPD52.
REFERENCE   4  (bases 1 to 4116)
  AUTHORS   Fan Y, Hou T, Dan W, Zhu Y, Liu B, Wei Y, Wang Z, Gao Y, Zeng J and
            Li L.
  TITLE     ERK1/2 inhibits Cullin 3/SPOP-mediated PrLZ ubiquitination and
            degradation to modulate prostate cancer progression
  JOURNAL   Cell Death Differ 29 (8), 1611-1624 (2022)
   PUBMED   35194188
  REMARK    GeneRIF: ERK1/2 inhibits Cullin 3/SPOP-mediated PrLZ ubiquitination
            and degradation to modulate prostate cancer progression.
REFERENCE   5  (bases 1 to 4116)
  AUTHORS   Shabbir M, Mukhtar H, Syed D, Razak S, Afsar T, Almajwal A, Badshah
            Y and Aldisi D.
  TITLE     Tissue microarray profiling and integrative proteomics indicate the
            modulatory potential of Maytenus royleanus in inhibition of
            overexpressed TPD52 in prostate cancers
  JOURNAL   Sci Rep 11 (1), 11935 (2021)
   PUBMED   34099820
  REMARK    GeneRIF: Tissue microarray profiling and integrative proteomics
            indicate the modulatory potential of Maytenus royleanus in
            inhibition of overexpressed TPD52 in prostate cancers. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 4116)
  AUTHORS   Wang R, He H, Sun X, Xu J, Marshall FF, Zhau H, Chung LW, Fu H and
            He D.
  TITLE     Transcription variants of the prostate-specific PrLZ gene and their
            interaction with 14-3-3 proteins
  JOURNAL   Biochem Biophys Res Commun 389 (3), 455-460 (2009)
   PUBMED   19732746
  REMARK    GeneRIF: Alternative splicing may contribute to abnormally enhanced
            PrLZ levels in prostate cancer, and interaction with 14-3-3 proteins
            may be a mechanism by which PrLZ promotes cell proliferation and
            survival during prostate cancer development and progression.
REFERENCE   7  (bases 1 to 4116)
  AUTHORS   Byrne JA, Nourse CR, Basset P and Gunning P.
  TITLE     Identification of homo- and heteromeric interactions between members
            of the breast carcinoma-associated D52 protein family using the
            yeast two-hybrid system
  JOURNAL   Oncogene 16 (7), 873-881 (1998)
   PUBMED   9484778
REFERENCE   8  (bases 1 to 4116)
  AUTHORS   Byrne JA, Mattei MG and Basset P.
  TITLE     Definition of the tumor protein D52 (TPD52) gene family through
            cloning of D52 homologues in human (hD53) and mouse (mD52)
  JOURNAL   Genomics 35 (3), 523-532 (1996)
   PUBMED   8812487
REFERENCE   9  (bases 1 to 4116)
  AUTHORS   Chen SL, Maroulakou IG, Green JE, Romano-Spica V, Modi W,
            Lautenberger J and Bhat NK.
  TITLE     Isolation and characterization of a novel gene expressed in multiple
            cancers
  JOURNAL   Oncogene 12 (4), 741-751 (1996)
   PUBMED   8632896
REFERENCE   10  (bases 1 to 4116)
  AUTHORS   Byrne JA, Tomasetto C, Garnier JM, Rouyer N, Mattei MG, Bellocq JP,
            Rio MC and Basset P.
  TITLE     A screening method to identify genes commonly overexpressed in
            carcinomas and the identification of a novel complementary DNA
            sequence
  JOURNAL   Cancer Res 55 (13), 2896-2903 (1995)
   PUBMED   7796418
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.70288.1,
            SRR1660807.62935.1 [ECO:0000332]
            RNAseq introns :: mixed/partial sample support SAMEA1965299,
            SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000518937.6/ ENSP00000429915.1
            RefSeq Select criteria      :: based on manual assertion
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC331087.1, AK295468.1, U18914.1, DA079836.1, CB128067.1,
            BU071387.1 and AC009686.14.
            On Jun 2, 2019 this sequence version replaced NM_001025253.2.
            Transcript Variant: This variant (2) contains an alternate 5'
            terminal exon and it thus differs in its 5' UTR and 5' coding
            region, compared to variant 4. The encoded isoform (2) has a
            distinct N-terminus and is shorter than isoform 4.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4116
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.13"
     gene            1..4116
                     /gene="TPD52"
                     /gene_synonym="D52; hD52; N8L; PC-1; PrLZ"
                     /note="tumor protein D52"
                     /db_xref="GeneID:7163"
                     /db_xref="HGNC:HGNC:12005"
                     /db_xref="MIM:604068"
     CDS             122..745
                     /gene="TPD52"
                     /gene_synonym="D52; hD52; N8L; PC-1; PrLZ"
                     /EC_number="2.7.1.21"
                     /note="isoform 2 is encoded by transcript variant 2;
                     prostate and colon associated protein; prostate leucine
                     zipper; protein N8"
                     /codon_start=1
                     /product="tumor protein D52 isoform 2"
                     /protein_id="NP_001020424.1"
                     /db_xref="CCDS:CCDS47879.1"
                     /db_xref="GeneID:7163"
                     /db_xref="HGNC:HGNC:12005"
                     /db_xref="MIM:604068"
                     /translation="MDRGEQGLLRTDPVPEEGEDVAATISATETLSEEEQEELRRELAK
                     VEEEIQTLSQVLAAKEKHLAEIKRKLGINSLQELKQNIAKGWQDVTATSAYKKTSETLS
                     QAGQKASAAFSSVGSVITKKLEDVKLQAFSHSFSIRSIQHSISMPAMRNSPTFKSFEEK
                     VENLKSKVGGTKPAGGDFGEVLNSAANASATTTEPLPEKTQESL"
     regulatory      2251..2256
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPD52"
                     /gene_synonym="D52; hD52; N8L; PC-1; PrLZ"
                     /note="hexamer: AATAAA"
     polyA_site      2271
                     /gene="TPD52"
                     /gene_synonym="D52; hD52; N8L; PC-1; PrLZ"
                     /note="major polyA site"
     regulatory      3969..3974
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPD52"
                     /gene_synonym="D52; hD52; N8L; PC-1; PrLZ"
                     /note="hexamer: AATAAA"
     polyA_site      3993
                     /gene="TPD52"
                     /gene_synonym="D52; hD52; N8L; PC-1; PrLZ"
     regulatory      4089..4094
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPD52"
                     /gene_synonym="D52; hD52; N8L; PC-1; PrLZ"
                     /note="hexamer: AATACA"
     polyA_site      4116
                     /gene="TPD52"
                     /gene_synonym="D52; hD52; N8L; PC-1; PrLZ"
ORIGIN
        1 gacttcgcgg gagtcgccgg cggaggcgag gaggagctct gcgcggcgcg gcgggcgatc
       61 cgagccggga cgggctgcag gcgggggtgc tgcagaggac acgaggcggc gggctggaga
      121 catggaccgc ggcgagcaag gtctgctgag aacagaccca gtccctgagg aaggagaaga
      181 tgttgctgcc acgatcagtg ccacagagac cctctcggaa gaggagcagg aagagctaag
      241 aagagaactt gcaaaggtag aagaagaaat ccagactctg tctcaagtgt tagcagcaaa
      301 agagaagcat ctagcagaga tcaagcggaa acttggaatc aattctctac aggaactaaa
      361 acagaacatt gccaaagggt ggcaagacgt gacagcaaca tctgcttaca agaagacatc
      421 tgaaacctta tcccaggctg gacagaaggc ctcagctgct ttttcgtctg ttggctcagt
      481 catcaccaaa aagctggaag atgtaaaatt gcaagccttt tcacattcct ttagtatacg
      541 ttccattcag cattcaatta gcatgcctgc tatgagaaac tccccaactt ttaaatcatt
      601 tgaagaaaag gtcgaaaact taaagtctaa agtaggggga accaagcctg ctggtggtga
      661 ttttggagaa gtcttgaatt cggctgcaaa tgctagtgcc accaccacgg agcctcttcc
      721 agaaaagaca caggagagcc tgtgagattc ctacctttgt tctgctaccc actgccagat
      781 gctgcaagcg aggtccaagc acatcttgtc aacatgcatt gccatgaatt tctaccagat
      841 gtgcttttat ttagctttac atattccttt gaccaaatag tttgtgggtt aaacaaaatg
      901 aaaatatctt cacctctatt cttgggaaac accctttagt gtacatttat gttcctttat
      961 ttaggaaaca ccattataaa aacacttata gtaaatgggg acattcacta taatgatcta
     1021 agaagctaca gattgtcata gttgttttcc tgctttacaa aattgctcca gatctggaat
     1081 gccagtttga cctttgtctt ctataatatt tccttttttt cccctctttg aatctctgta
     1141 tatttgattc ttaactaaaa ttgttctctt aaatattctg aatcctggta attaaaagtt
     1201 tgggtgtatt ttctttacct ccaaggaaag aactactagc tacaaaaaat attttggaat
     1261 aagcattgtt ttggtataag gtacatattt tggttgaaga caccagactg aagtaaacag
     1321 ctgtgcatcc aatttattat agttttgtaa gtaacaatat gtaatcaaac ttctaggtga
     1381 cttgagagtg gaacctccta tatcattatt tagcaccgtt tgtgacagta accatttcag
     1441 tgtattgttt attataccac ttatatcaac ttatttttca ccaggttaaa attttaattt
     1501 ctacaaaata acattctgaa tcaagcacac tgtatgttca gtaggttgaa ctatgaacac
     1561 tgtcatcaat gttcagttca aaagcctgaa agtttagatc tagaagctgg taaaaatgac
     1621 aatatcaatc acattagggg aaccattgtt gtcttcactt aatccattta gcactattta
     1681 aaataagcac accaagttat atgactaata taacttgaaa attttttata ctgaggggtt
     1741 ggtgataact cttgaggatg taatgcatta ataaaaatca actcatcatt ttctacttgt
     1801 tttcaatgtg ttggaaactg taaaatgata ctgtagaacc tgtctcctac tttgaaaact
     1861 gaatgtcagg gctgagtgaa tcaaagtgtc tagacatatt tgcatagagg ccaaggtatt
     1921 ctattctaat aactgcttac tcaacactac caccttttcc ttatactgta tatgattatg
     1981 gcctacaatg ttgtatttgt tatttattaa attgtgattg ttttattatt gtttatgcca
     2041 aatgttaact gccaagcttg gagtgaccta aagcattttt taaaagcatg gctagattta
     2101 cttcagtata aattatctta tgaaaaccaa attttaaaag ccacaggtgt tgattgttat
     2161 aaaataacat gctgccattc ttgattgcta gagtttttgt tagtactttg gatgcaatta
     2221 aaactatgtg ctatcacatg tgaaaagctt aataaattcc atctatcagt agtataggtc
     2281 tcaatattta ttatgagacc agtggtctgg aaacagcttg ttgtaccgaa tcaactggag
     2341 tctatgctta aaaaaaaaaa attttttttt aaccatcctt aaattattgc ttaatggtat
     2401 catattaaca tattctaaat aagggcttta aggcacaggc tgttgaagca ttttctcaga
     2461 ggagtggatc tgtagaagtc tgtctttcta tagaaatatt gtgcttactc aagtgttaaa
     2521 ttattttttc tatgaactag tctacttctt aaaattcaaa catattcttt tgatcacatt
     2581 gtttcttgag catcctgccc tgctactaac ttttcaacaa ggcaaaatgg agtaaagtgg
     2641 caatttcttt agatgagtga aataccctca agtctctttt ctgcccaaaa agggaaaagt
     2701 gatagaaatg ggggtggcaa gtggggtgag tggatgaagg tgggtattgg gggtggctgt
     2761 gaaagaaaat aatggagaat cacttttcta gacatctacc tatacttaat ctaagaaaca
     2821 aagtaatcta ctgtaaagta ctctgcccct tgaaagaagt attaaaaaga gtgaggatgg
     2881 atttagaaaa aaacatgaat ttagaaatat tcaaaatggt ttttgtggca gattcaatat
     2941 tatgaattca cagatattta aagaatgaga aacatagtaa ttagtagaaa tgccagaaac
     3001 agttcctggt tcctcttgtg tttgacacta agaaaatagc aagagtgtga aatctcagat
     3061 acttatgaaa tctcacagat gtaaggactc aagtgtagaa gaaaatatcc ccttcttaca
     3121 aaaagaaatg tcaatttatg gagtttgtgg gaaatagggc aagaattctt atgcttatga
     3181 gagccaagta gtcagtggaa gagagtagag ctcaaaactg gattatcacc ttagcaactt
     3241 agaatagttt gaaatagaaa aaaagtattt aatttggatc tggatctgtt aagatatgca
     3301 cagtctattt tttgtatagt attggaaaat aaaaatgcta taatttgggt atgggttctt
     3361 ttgtatacat tacctgccca ttgaggaaag gggcaagtcc attatgcaac ttctctccaa
     3421 acccttcata ttctggatat gatacttaaa gagccatgag cagctacatt ctgcctatca
     3481 gaaggcattt attaaatgac tgcttgctga agatgtgtcc aaagagatcc tacattaagg
     3541 tcatttgtca gaatgatgtt tgtgtttgtt tagagttggc tgacctccaa ctcctggggt
     3601 caaggaatcc tactgcctta gcttcccaaa tagctaggac tataggcatg cacccggcca
     3661 tgtgttttat ttatagctct taaagcccag atgaagaaat cacatttttg cccatagtga
     3721 agaaacattt ggccattgat tagtccttat tttcagtgac tgtcctgttt tcattagatt
     3781 agagagaccc tgtgtgggcc acagttaata taaaccatta tcacttttaa gtaaacctgc
     3841 acatcttaga tttcataatt tccttattgt tctgactcaa aatgaactaa gagcttttca
     3901 ctttttgttt gtaagttctc agagagtcgg gtctgcaagt gcttttgcct gccaggattt
     3961 tgtactcaaa taaatgctat ttggcaacta aaattcttgc cagctctcat gtaattttga
     4021 tgttactgag gttggttggt agtttatttt attaattttg tggttcttct atcatataga
     4081 aaaagccaaa tacagttttg tttgaatatt tgtaaa
//
LOCUS       NM_001025265             834 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens chromosome X open reading frame 65 (CXorf65),
            transcript variant 1, mRNA.
ACCESSION   NM_001025265
VERSION     NM_001025265.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 834)
  AUTHORS   He Y, Xu R, Zhai B, Zhou S, Wang X and Wang R.
  TITLE     Gm614 Protects Germinal Center B Cells From Death by Suppressing
            Caspase-1 Transcription in Lupus-Prone Mice
  JOURNAL   Front Immunol 11, 585726 (2020)
   PUBMED   33193409
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 834)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer
            M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL,
            Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME,
            Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R,
            Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson
            A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler
            DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S,
            Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker
            GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O,
            Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman
            AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P,
            Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel
            L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z,
            Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S,
            Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS,
            Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O,
            Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H,
            Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T,
            Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis
            F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner
            G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R,
            Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S,
            Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume
            J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de
            Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis
            P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK,
            Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM,
            Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J,
            Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl
            P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S,
            Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN,
            Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S,
            Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey
            Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG,
            Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD,
            Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann
            RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K,
            Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M,
            Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry
            GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey
            DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L,
            Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S,
            Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A,
            Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM,
            Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R,
            Hubbard T, Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.166161.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374251.6/ ENSP00000363369.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB457782.1, DB523273.1 and AL590764.3.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001025265.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the functional protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
FEATURES             Location/Qualifiers
     source          1..834
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..834
                     /gene="CXorf65"
                     /note="chromosome X open reading frame 65"
                     /db_xref="GeneID:158830"
                     /db_xref="HGNC:HGNC:33713"
     misc_feature    167..169
                     /gene="CXorf65"
                     /note="upstream in-frame stop codon"
     CDS             185..736
                     /gene="CXorf65"
                     /codon_start=1
                     /product="uncharacterized protein CXorf65"
                     /protein_id="NP_001020436.1"
                     /db_xref="CCDS:CCDS35324.1"
                     /db_xref="GeneID:158830"
                     /db_xref="HGNC:HGNC:33713"
                     /translation="MFIFIKHGDNQQFLVNTNCAVVVLLYYIRSKVKLPKTNTIDLCEQ
                     TGKMKMLFLMKPNHAEYASKYLTARSTYYVCKVERGPPGTRLENAYRAFVPLLKNPEPW
                     LLVALRIQCDALERRRIQMLKMKEAKKVVIIEPPASVPSKQSGRSDKKKSTRKSPTFRN
                     RPDFRKNKGRQLNKTTKQKK"
     misc_feature    590..733
                     /gene="CXorf65"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NEN9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      710..715
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CXorf65"
                     /note="hexamer: AATAAA"
     polyA_site      736
                     /gene="CXorf65"
                     /note="major polyA site"
ORIGIN
        1 atccacaact atcaacagct ctctcctgcc tgtccagcct gggcatcctc agcctatgaa
       61 atccatctgc ctctctagtc caccaaccct ataggcctat ttgccccaca caaggcctct
      121 agaacaccct ccttctgcat gactcatcag ggcactttgt gaagagtgag gcgatcttga
      181 gggcatgttc atcttcatca aacatggaga taatcagcag tttctggtca ataccaactg
      241 tgctgtcgtc gtgttgctgt attacatccg cagtaaagta aagttgccta aaacaaacac
      301 catcgatttg tgtgaacaaa cggggaaaat gaagatgctt ttcctgatga agcccaatca
      361 tgcagagtat gccagcaaat accttacagc tcgaagcacc tactacgttt gtaaggtgga
      421 acgtgggcca ccaggaacca ggctggagaa tgcttacaga gcttttgtgc ctctcctcaa
      481 gaatccggag ccttggctgc ttgttgcact gcgcatacaa tgtgatgccc tggagaggag
      541 acgaattcag atgcttaaaa tgaaagaagc caagaaggtc gttataattg aaccccctgc
      601 gagtgtcccg tccaagcaat caggacgatc agacaaaaag aagtccactc gcaagtctcc
      661 gacctttagg aacagaccag acttcaggaa gaataaaggt cgccaactca ataaaaccac
      721 caagcaaaag aagtaatact aggtgtgaaa ttactggaat ttaacgtgag atttcttttt
      781 ctagaaagac tccttctccc aatatctgca ctaaggcttg agtacatacg cccc
//
LOCUS       NM_001025266            7159 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens chromosome 3 open reading frame 70 (C3orf70), mRNA.
ACCESSION   NM_001025266
VERSION     NM_001025266.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7159)
  AUTHORS   Cao R, Ma B, Wang G, Xiong Y, Tian Y and Yuan L.
  TITLE     An Epithelial-Mesenchymal Transition (EMT) Preoperative Nomogram for
            Prediction of Lymph Node Metastasis in Bladder Cancer (BLCA)
  JOURNAL   Dis Markers 2020, 8833972 (2020)
   PUBMED   33204364
  REMARK    GeneRIF: An Epithelial-Mesenchymal Transition (EMT) Preoperative
            Nomogram for Prediction of Lymph Node Metastasis in Bladder Cancer
            (BLCA). Publication Status: Online-Only
REFERENCE   2  (bases 1 to 7159)
  AUTHORS   Ashikawa Y, Shiromizu T, Miura K, Adachi Y, Matsui T, Bessho Y,
            Tanaka T and Nishimura Y.
  TITLE     C3orf70 Is Involved in Neural and Neurobehavioral Development
  JOURNAL   Pharmaceuticals (Basel) 12 (4), 156 (2019)
   PUBMED   31623237
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 7159)
  AUTHORS   Wray NR, Pergadia ML, Blackwood DH, Penninx BW, Gordon SD, Nyholt
            DR, Ripke S, MacIntyre DJ, McGhee KA, Maclean AW, Smit JH, Hottenga
            JJ, Willemsen G, Middeldorp CM, de Geus EJ, Lewis CM, McGuffin P,
            Hickie IB, van den Oord EJ, Liu JZ, Macgregor S, McEvoy BP, Byrne
            EM, Medland SE, Statham DJ, Henders AK, Heath AC, Montgomery GW,
            Martin NG, Boomsma DI, Madden PA and Sullivan PF.
  TITLE     Genome-wide association study of major depressive disorder: new
            results, meta-analysis, and lessons learned
  JOURNAL   Mol Psychiatry 17 (1), 36-48 (2012)
   PUBMED   21042317
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC137179.1, SRR1803614.97866.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000335012.3/ ENSP00000334974.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007934.7, HY136108.1, BC150565.1, AC025573.13 and BM683735.1.
            On Nov 23, 2018 this sequence version replaced NM_001025266.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7159
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.2"
     gene            1..7159
                     /gene="C3orf70"
                     /note="chromosome 3 open reading frame 70"
                     /db_xref="GeneID:285382"
                     /db_xref="HGNC:HGNC:33731"
     misc_feature    124..126
                     /gene="C3orf70"
                     /note="upstream in-frame stop codon"
     CDS             238..990
                     /gene="C3orf70"
                     /codon_start=1
                     /product="UPF0524 protein C3orf70"
                     /protein_id="NP_001020437.1"
                     /db_xref="CCDS:CCDS33900.1"
                     /db_xref="GeneID:285382"
                     /db_xref="HGNC:HGNC:33731"
                     /translation="MSAAASPASERGWKSEKLDEAQALARSCAARRPDFQPCDGLSICA
                     THSHGKCFKLHWCCHLGWCHCKYMYQPMTPVEQLPSTEIPARPREPTNTIQISVSLTEH
                     FLKFASVFQPPLPPDSPRYCMISDLFIDNYQVKCINGKMCYVQKQPAPHSHRMSPEEVS
                     AHDALISKESNTPKIDHCSSPSSSEDSGINAIGAHYVESCDEDTEEGAELSSEEDYSPE
                     SSWEPDECTLLSPSQSDLEVIETIETTV"
     misc_feature    838..987
                     /gene="C3orf70"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NLC5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4447..4452
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C3orf70"
                     /note="hexamer: ATTAAA"
     polyA_site      4473
                     /gene="C3orf70"
                     /note="major polyA site"
     regulatory      5913..5918
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C3orf70"
                     /note="hexamer: AATAAA"
     polyA_site      5939
                     /gene="C3orf70"
                     /note="major polyA site"
     regulatory      6068..6073
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C3orf70"
                     /note="hexamer: ATTAAA"
     polyA_site      6105
                     /gene="C3orf70"
     regulatory      6462..6467
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C3orf70"
                     /note="hexamer: AATAAA"
     polyA_site      6486
                     /gene="C3orf70"
     regulatory      7136..7141
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C3orf70"
                     /note="hexamer: AATAAA"
     polyA_site      7159
                     /gene="C3orf70"
ORIGIN
        1 ggggcgcggc gcgcgccgcg ccggagggag ggaggctgcc agcccggacc cggtcgcagc
       61 gcccggggcg gctcctcctc gagcctggga ccgccgcgct cccgccgccg ccgcgtgctg
      121 gcgtgactcc cggcccgtgc cgcgccctcc cgcgtccgca gccggctcgg cttcctgccc
      181 acccagacgt cgcttctccc gggctcccgg tgtcggctcc gcgcggaggg agaggaaatg
      241 agtgcggcgg cctcgccggc gtcggagcgg ggttggaaga gcgagaaact agatgaggct
      301 caggccctgg cgcggagttg cgccgcccgc agacccgact tccagccgtg cgacgggctg
      361 tctatctgtg ccacgcacag ccatggcaag tgcttcaagc tgcactggtg ctgtcaccta
      421 ggatggtgtc actgcaaata catgtatcag cctatgaccc ctgtggaaca gcttccaagc
      481 actgagattc ctgccaggcc tcgggaaccc acaaacacca ttcagatctc agtctcgctc
      541 accgaacact ttttgaaatt tgcatctgtc ttccagcctc cccttccccc tgactcaccg
      601 aggtactgta tgatttcaga cctttttatt gacaactatc aggttaaatg tattaatggg
      661 aagatgtgtt atgtgcagaa gcagccggca ccacattccc acagaatgag ccctgaggag
      721 gtctctgcac acgatgcctt aatttcaaaa gagagcaata caccaaaaat agatcactgc
      781 tcttctccct caagttctga ggactctggg atcaatgcga ttggggctca ctatgtggaa
      841 tcgtgtgacg aggacacaga agaaggagca gaactgagtt cagaggaaga ttacagtcca
      901 gagagcagct gggaaccgga tgagtgcacc cttctctccc cctcgcagtc tgacctggaa
      961 gtgattgaaa cgatagaaac gactgtgtga gagtccagac aggaagccac agcctcggac
     1021 ccacgccgag cttttgtacc tttgtctggt ggatcctttt ttccaatgct gttgatattt
     1081 tctacccacc ccgccccgct ccaaccaaca accgtagcag ttcagtggta tgctgattag
     1141 cttctctccg tcttacaact aagacattct ttttattata aacagttttc ttttgtatcc
     1201 tgacttactt tctatgtagc atctggtgtc atgaattgtg accccgcctt aatttcactg
     1261 ggagatttga aggcggtgaa gtgatggtcg cagagaatct tggatcagat tgaggaggta
     1321 ccgaaaggga aggagccggt gttttctcgg tagccagtcc ttcacagaga ctcttgccat
     1381 tccctttggc atgttcacag gcactcccgt cctgtcctgc ttgtcctacg caagtagcac
     1441 tccctactga gtgtgcactg gtagatgccg tttcttccct tccccttctc cccacacctg
     1501 cactgggtct ggatcagagc tgcctcggct tacttctggg aggtcactgg aggccagctc
     1561 agcccatggt ttgtggccag tgtctgtaca aggctccgtg actggggctg agctaaacat
     1621 tcacatgaga agagatgacc tcatctgtct catgctcaat ccagccttag ctgagcacct
     1681 gtcccctgca gggggctgtg gggacacagc atgaataaga cctgattccc accatgaagg
     1741 ggcccacagt cctatatatg acacattcaa ctcatggcac ccaaaaagct ctgggaaccc
     1801 aggggaagga tgaggtttac ttggctgggg ctagctgggg aatgtgtttc agcatttgag
     1861 ctggcttctt ggtgggttcc ccaacatttt tctgctttta attgttcttc aagtctggga
     1921 aaaactctta ggaagttata taggtatcac atttaggtgg cagccacatc tgacatctta
     1981 aggaaaaaaa ataaattaat agttttagtt agcatggaaa tgctacagac agaagccctt
     2041 tagggattag gactgaatct aataggtttg attaattctg cttcatttgg ttgtatgaag
     2101 cattcgtatg gtttaagtga ggaatggatt agaattcagt gtgatgcatg gatttttatg
     2161 cagctgcaaa agcagttgaa atagtttgct gctaagtcag gagaaaatat ccagtgtaat
     2221 agccattcac tttcccacac agtctgtctg ttgtatgtgt tctctcccct cacatgcaca
     2281 aaatagtgac taattctttc ttatttagct ctcttcagaa ttctacttct actctccatt
     2341 tataccaggt attcttgtga gtcagttaac tgctatttct ccaaaccttc tatccatgag
     2401 gcatagtttc aaatcctgga aattttaagt atggcctaat gagaacatca gagttggaga
     2461 cagaacagta cttccatcct aactatccag aagcgcactc tcaggccatt gtgctctgag
     2521 attcccttgt gctctggcac cattatggta catctctacg tcacattaat tttttttttt
     2581 ttgagatgga gtttccctct tgctgcccag gctggagtgc agcggcgtga tcttggctct
     2641 ctacaacctc tgcctcctgg ggtcaagcga ttctcctgcc tcagcctcct gagtagctgg
     2701 gactatgggc acgtgccacc acacctggct aattttttgt atttttagta gagacgggct
     2761 ttcaccatgt tagccaggat ggtctcgatc tgaccttgtg atccacccac ctcggcctcc
     2821 ccaagtgctg ggattacaag catgagccac cacgcccggc cggatttgta agaaaaagtt
     2881 gtgttctccc ctgaagcctc catttggcat cattcacaaa ctactcaagg aagaatttgc
     2941 tttcccagtt gtatgtataa tttaagtcgt ttactagata gaactttttt ttaggtttag
     3001 atggccaaga catctatatg gtttagaagg cagagtatac attttccttt gcaaacagta
     3061 tgagttaaaa ctttctatgc taaatgagaa tgcggcataa agtctccact tactgaaatt
     3121 taaagattca acaagacaaa ccgagaaggg ggtcagagga gctctaggaa aggcccagga
     3181 gagggcagtt ggaggcaggt gtgagcatga ggagcttccc cctgccaggg catggctcag
     3241 gtggcacagg gacatctgat gaaccctgcc cgaggttctc ggtgcctccc gtgcatgagt
     3301 ggctcactga aggcaggtgt ggaagccaaa tgcctgcaag ccgtgtgtca ggccacagca
     3361 gtgcagtcat gcatcacgca ctcaggtttg taacagcaac accagggccc tgtctagatt
     3421 caccctgtgg gtgagcccgt tctccagatg ggcgtataaa ggggctttct cctctacacc
     3481 gttcctgtca atgttccgta caggcccaca ttcccaccac taagccaatg gagtcaacca
     3541 gatttctaaa gccatggata tacgtggtca cggggccaca tttctgcagc tggctcagtg
     3601 gcaggcttgg gccgtctctc agtaccatct aagacttctg tctaggttcc tgttttttta
     3661 gactcctgaa ctgccattct gattagacac aattttaatg gaatttttgg atttaataat
     3721 agttgataat caccttatgt atttgcacaa tctctttata attaaaaact cgctaagctt
     3781 cacttgctac tatctactat atagaattag agacattcca ttggattcta agcatcagac
     3841 actcctggat ctcaaaatga ccttttctaa ataagcacaa gatttatttt tgtcctagca
     3901 ctgttgataa cactctgaaa tatgttattg aactggaatt gtttctttat gcttgcattc
     3961 caaaaccaac tgaaacagat tgtagtttca ctttaaattc taggcctgtt ctatattatg
     4021 tgaaggaatt ctctgtaacg ctgatactat gttgctaatt tgtgtactta cagacacttt
     4081 agaaaatgtt tagactgcaa catgcactat aacattgaac tcagtcacat gaagtggtta
     4141 acacttgcac actgactgac agatatgaaa gctgtatact ttggacccag taatatgctc
     4201 attggagcaa gggttgggct gtgtggatgg ataaactgct ttcttgggtt tacatggaaa
     4261 cctggtacca ctcctacttt tggaaagttg gtataaaagc tattaggtag aagcttaatt
     4321 ccactaaatg tagaatttag ttttcttctc taaccaagat tttagaagtt tcaagtttca
     4381 aatatgctta taacttttcc aagaaatgat gattacagtg cttttgtggt tacaactgtt
     4441 tggtatatta aaaaataagg gtttactatc acatctaggt cttttttact atgtcatttt
     4501 taagatatga aataagaatc tgaggacagc cctgaagaac agtcctttcc tgggagggga
     4561 agacttgtaa ttcaaggtca tacaatacaa aataaaacaa aaacaaaagc accaagagca
     4621 gaacaaaaca acgtagttgc tttcctgaaa tactttttgg atttgattct atcttgggag
     4681 tggtggcttt actttttttt tttttttttt ttttttgaga cagagtctcg ctccttcacc
     4741 caggctggag tgcagtggcg cgatctcggc tcactgccag ctctgcctcc caggttcatg
     4801 ccattctcct gcctcagcct cctgagtagc tgggactata ggtgcccgcc accatgcctc
     4861 gctaattttt tgtattttta gtagaaacgg ggtttcaccg tgttagccag gatggtcttg
     4921 atctcatgac ctcgtgatcc accctcctcg gcttcccaaa gtgctgggat tgcaggcgtg
     4981 aaccaccacg cccggccggc tttacttcta atcctccact tcttggtcta tttgaaccat
     5041 cacaagtatt ttgggaccga taacaaaccc cttttatgct aatttaattc ttgacttggg
     5101 taataggtgc acctggataa tttataaagc tgtccataga tctaagttta gtggtacaga
     5161 tactactggg caggagaaaa agcacaagtt aaaatatttc tacagtcagc tcttaatatt
     5221 cccacatctt gtttgcaaaa ttttatggtc acgttctggc ttttttacat gaggaaaaca
     5281 aagttttaac agttttctct tctgtcccct tctccagagg aggtgtgaac cagaactgag
     5341 gaggccagtt atattttagg cttttcagta gtacgatttt gtcctctccc actgaggagg
     5401 agggaagaag ggggaagcca gtgggagttc cacacacgtg gtcagtgctg taagttcccg
     5461 gatatcagtg tctctcacat caacacagaa atagggcact tctcaacatt aattttggaa
     5521 ttattcacca tttaaaaatt gtcactgctc tttttcatta ctgtagataa ctgagagtta
     5581 gctgttctag gaaaaggcca tgtttcagtt agtgctatga cttctttttt cgattaaggt
     5641 tgaagcagtg ttctcttagt agcctgaaca cttctcaaag cgacttatca ctagcggctt
     5701 taatattgag cttctatatc gttgtgtcca cctcactttt taaggctgtt catacctggc
     5761 aatattcact tactctgcta tttttaaaaa ctattttaaa gttttaagca caatgttgac
     5821 tcttctgtaa tttcctaaaa ttatattgtt ttcctacaga cagctcaact ttccttgata
     5881 tgtaacactt taggaaaata actgccttgt aaaataaacg tgattttttt tttcttttat
     5941 accagaacaa atctgctgtt ttggagtgta cccaacccca aaaccaaaac tcacgtttgc
     6001 aaagtgtgaa acatttatat atcaggtctt tcctacgtgc taggaaatag cgtatggcca
     6061 ttaccccatt aaacctttac aagacctcaa tgaggtgcag ataaactgta ctgtccgcag
     6121 tatctactca gagtcaccac tcatgataac tcccagaact ctggctacat tgggtttata
     6181 gcaaataaaa cttgataccc cccccccacc accaccaaat agcatttatt tcacacgcag
     6241 ttacagcctt tctgttcggc ttacacgtgt catgtggggc agtgttggct gcagttctaa
     6301 ctgaagatca ggcatcgagg gaggctgctg cccggcagag cttggggggg tcgcttggtc
     6361 accaagactc aggggccagg cctcagcgcg gcaagtccat actcagaaaa gaacagcttc
     6421 aagggttgga gtctattgaa caaccttcct aggaactgct aaataaagtc attatcagta
     6481 ataaaatcct tgttaatatt aattatagtt caatggctac cttaagcttt ctatgcataa
     6541 tctccacagc aaccctgtga gggagattaa agcagcccca tttcacagat caggaaaaga
     6601 gctcaagaag tccacatctt tacccagtgt ggcacagctc gtacatgagt ggcagtcagg
     6661 gtttgaaccc ggtcactttg gctctagagt ccgcactctt ggcccattgt ctgcattact
     6721 ccatccccct aacccagcag ataccttccc acagactagt gcctcgtcta cctcagtgca
     6781 cctggtccca acacagtgga ggagaaacac tgacaggctt ccctctttgt ccccttctct
     6841 gtcctccata cagtgccccc ccaccccgca ccctatacca tgtctctgca aatatctcta
     6901 tgctctgatg aggccattgc ttcttccatg tttaatcacc tcttgactag cattcaagac
     6961 tagctctgcc tttcctaaag ctaactgatc ttttaaagtg attcctgcag acagcgcatc
     7021 tcatctgcgt gtgcactcta ctgttttaac tctctaccta attgtattgc caagtcctag
     7081 aaggcatctc attgtagcct cttacaaatg ctgactgcac acacttttat tctgcaataa
     7141 actttaattt agcatctca
//
LOCUS       NM_001025290             659 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA.
ACCESSION   NM_001025290
VERSION     NM_001025290.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 659)
  AUTHORS   Taei A, Kiani T, Taghizadeh Z, Moradi S, Samadian A, Mollamohammadi
            S, Sharifi-Zarchi A, Guenther S, Akhlaghpour A, Asgari Abibeiglou B,
            Najar-Asl M, Karamzadeh R, Khalooghi K, Braun T, Hassani SN and
            Baharvand H.
  TITLE     Temporal activation of LRH-1 and RAR-gamma in human pluripotent stem
            cells induces a functional naive-like state
  JOURNAL   EMBO Rep 21 (10), e47533 (2020)
   PUBMED   33252195
REFERENCE   2  (bases 1 to 659)
  AUTHORS   Qian X, Kim JK, Tong W, Villa-Diaz LG and Krebsbach PH.
  TITLE     DPPA5 Supports Pluripotency and Reprogramming by Regulating NANOG
            Turnover
  JOURNAL   Stem Cells 34 (3), 588-600 (2016)
   PUBMED   26661329
  REMARK    GeneRIF: Our study provides new insight into the function of DPPA5
            and NANOG regulation in human pluripotent stem cell .
REFERENCE   3  (bases 1 to 659)
  AUTHORS   Aoki T, Ohnishi H, Oda Y, Tadokoro M, Sasao M, Kato H, Hattori K and
            Ohgushi H.
  TITLE     Generation of induced pluripotent stem cells from human
            adipose-derived stem cells without c-MYC
  JOURNAL   Tissue Eng Part A 16 (7), 2197-2206 (2010)
   PUBMED   20146561
REFERENCE   4  (bases 1 to 659)
  AUTHORS   Tian X, Pascal G, Fouchecourt S, Pontarotti P and Monget P.
  TITLE     Gene birth, death, and divergence: the different scenarios of
            reproduction-related gene evolution
  JOURNAL   Biol Reprod 80 (4), 616-621 (2009)
   PUBMED   19129511
  REMARK    Review article
REFERENCE   5  (bases 1 to 659)
  AUTHORS   Dansranjavin T, Krehl S, Mueller T, Mueller LP, Schmoll HJ and
            Dammann RH.
  TITLE     The role of promoter CpG methylation in the epigenetic control of
            stem cell related genes during differentiation
  JOURNAL   Cell Cycle 8 (6), 916-924 (2009)
   PUBMED   19221495
REFERENCE   6  (bases 1 to 659)
  AUTHORS   Pierre A, Gautier M, Callebaut I, Bontoux M, Jeanpierre E,
            Pontarotti P and Monget P.
  TITLE     Atypical structure and phylogenomic evolution of the new eutherian
            oocyte- and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family
  JOURNAL   Genomics 90 (5), 583-594 (2007)
   PUBMED   17913455
REFERENCE   7  (bases 1 to 659)
  AUTHORS   Lagarkova MA, Volchkov PY, Lyakisheva AV, Philonenko ES and Kiselev
            SL.
  TITLE     Diverse epigenetic profile of novel human embryonic stem cell lines
  JOURNAL   Cell Cycle 5 (4), 416-420 (2006)
   PUBMED   16479162
REFERENCE   8  (bases 1 to 659)
  AUTHORS   Western P, Maldonado-Saldivia J, van den Bergen J, Hajkova P, Saitou
            M, Barton S and Surani MA.
  TITLE     Analysis of Esg1 expression in pluripotent cells and the germline
            reveals similarities with Oct4 and Sox2 and differences between
            human pluripotent cell lines
  JOURNAL   Stem Cells 23 (10), 1436-1442 (2005)
   PUBMED   16166252
REFERENCE   9  (bases 1 to 659)
  AUTHORS   Adjaye J, Huntriss J, Herwig R, BenKahla A, Brink TC, Wierling C,
            Hultschig C, Groth D, Yaspo ML, Picton HM, Gosden RG and Lehrach H.
  TITLE     Primary differentiation in the human blastocyst: comparative
            molecular portraits of inner cell mass and trophectoderm cells
  JOURNAL   Stem Cells 23 (10), 1514-1525 (2005)
   PUBMED   16081659
REFERENCE   10  (bases 1 to 659)
  AUTHORS   Kim SK, Suh MR, Yoon HS, Lee JB, Oh SK, Moon SY, Moon SH, Lee JY,
            Hwang JH, Cho WJ and Kim KS.
  TITLE     Identification of developmental pluripotency associated 5 expression
            in human pluripotent stem cells
  JOURNAL   Stem Cells 23 (4), 458-462 (2005)
   PUBMED   15790765
  REMARK    GeneRIF: Dppa5 is specifically and differentially expressed in human
            cells that have pluripotency and can be used as a marker of
            pluripotent stem cells.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX092581.1, BC137549.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370370.4/ ENSP00000359396.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC137549.1 and AI365263.1.
            On Nov 22, 2018 this sequence version replaced NM_001025290.2.
            Summary: This gene encodes a protein that may function in the
            control of cell pluripotency and early embryogenesis. Expression of
            this gene is a specific marker for pluripotent stem cells.
            Pseudogenes of this gene are located on the short arm of chromosome
            10 and the long arm of chromosomes 14 and 19. [provided by RefSeq,
            Dec 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..659
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q13"
     gene            1..659
                     /gene="DPPA5"
                     /gene_synonym="ESG1"
                     /note="developmental pluripotency associated 5"
                     /db_xref="GeneID:340168"
                     /db_xref="HGNC:HGNC:19201"
                     /db_xref="MIM:611111"
     misc_feature    4..6
                     /gene="DPPA5"
                     /gene_synonym="ESG1"
                     /note="upstream in-frame stop codon"
     CDS             52..402
                     /gene="DPPA5"
                     /gene_synonym="ESG1"
                     /note="embryonal stem cell specific gene 1"
                     /codon_start=1
                     /product="developmental pluripotency-associated 5 protein"
                     /protein_id="NP_001020461.1"
                     /db_xref="CCDS:CCDS34483.1"
                     /db_xref="GeneID:340168"
                     /db_xref="HGNC:HGNC:19201"
                     /db_xref="MIM:611111"
                     /translation="MGTLPARRHIPPWVKVPEDLKDPEVFQVQTRLLKAIFGPDGSRIP
                     YIEQVSKAMLELKALESSDLTEVVVYGSYLYKLRTKWMLQSMAEWHRQRQERGMLKLAE
                     AMNALELGPWMK"
     regulatory      638..643
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPPA5"
                     /gene_synonym="ESG1"
                     /note="hexamer: AATAAA"
     polyA_site      659
                     /gene="DPPA5"
                     /gene_synonym="ESG1"
                     /note="major polyA site"
ORIGIN
        1 gattaggcct ggtttgcgct ggagagtggt cttggttgtg agggtcataa gatgggaact
       61 ctcccggcac gtagacatat cccgccgtgg gtgaaagttc ccgaagacct gaaagatcca
      121 gaggtgttcc aggtccagac gcggctgctg aaagccattt tcggcccgga cggatctcga
      181 atcccttaca tcgagcaggt gagcaaggcc atgctcgagc tgaaggctct ggagtcttca
      241 gacctcaccg aggtcgtggt ttacggctcc tatttgtaca agctccggac caagtggatg
      301 ctccagtcca tggctgagtg gcaccgccag cgccaggagc gagggatgct caaacttgcc
      361 gaagccatga atgccctcga actaggccct tggatgaagt gaaccagttt ccagccaatg
      421 caatgaagcc gggttgcaga gattaggttg tggccagagc tagagtgatt ccttaagctt
      481 gttttaaaat ctgctccagc ctaaagagtt aagggaaaac catttgttcc cttaaagagt
      541 taagggaaaa cccttggctc tgagtcttgt tgtgaatatt tctttgatga ttgttaataa
      601 aaagtgtttt ttcttttttc ccatttttaa aaataacaat aaagttttaa ataagttga
//
LOCUS       NM_001025295             736 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens interferon induced transmembrane protein 5 (IFITM5),
            mRNA.
ACCESSION   NM_001025295
VERSION     NM_001025295.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 736)
  AUTHORS   Maranda V, Gaumond MH and Moffatt P.
  TITLE     The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes
            Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts
  JOURNAL   Int J Mol Sci 23 (4), 2148 (2022)
   PUBMED   35216266
  REMARK    GeneRIF: The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5
            Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in
            Osteoblasts. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 736)
  AUTHORS   Whyte MP, Aronson J, McAlister WH, Weinstein RS, Wenkert D, Clements
            KL, Gottesman GS, Madson KL, Stolina M, Bijanki VN, Plotkin H,
            Huskey M, Duan S and Mumm S.
  TITLE     Coalescing expansile skeletal disease: Delineation of an
            extraordinary osteopathy involving the IFITM5 mutation of
            osteogenesis imperfecta type V
  JOURNAL   Bone 145, 115835 (2021)
   PUBMED   33360005
  REMARK    GeneRIF: Coalescing expansile skeletal disease: Delineation of an
            extraordinary osteopathy involving the IFITM5 mutation of
            osteogenesis imperfecta type V.
REFERENCE   3  (bases 1 to 736)
  AUTHORS   Zhytnik L, Maasalu K, Duy BH, Pashenko A, Khmyzov S, Reimann E,
            Prans E, Koks S and Martson A.
  TITLE     IFITM5 pathogenic variant causes osteogenesis imperfecta V with
            various phenotype severity in Ukrainian and Vietnamese patients
  JOURNAL   Hum Genomics 13 (1), 25 (2019)
   PUBMED   31159867
  REMARK    GeneRIF: We suggest that all patients negative for COL1A1/2
            pathogenic variants be tested for the presence of an IFITM5
            pathogenic variant, even if they are not expressing typical
            osteogenesis imperfecta V symptoms. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 736)
  AUTHORS   Farber,C.R., Reich,A., Barnes,A.M., Becerra,P., Rauch,F.,
            Cabral,W.A., Bae,A., Quinlan,A., Glorieux,F.H., Clemens,T.L. and
            Marini,J.C.
  TITLE     A novel IFITM5 mutation in severe atypical osteogenesis imperfecta
            type VI impairs osteoblast production of pigment epithelium-derived
            factor
  JOURNAL   J Bone Miner Res 29 (6), 1402-1411 (2014)
   PUBMED   24519609
REFERENCE   5  (bases 1 to 736)
  AUTHORS   Lazarus S, McInerney-Leo AM, McKenzie FA, Baynam G, Broley S, Cavan
            BV, Munns CF, Pruijs JE, Sillence D, Terhal PA, Pryce K, Brown MA,
            Zankl A, Thomas G and Duncan EL.
  TITLE     The IFITM5 mutation c.-14C > T results in an elongated transcript
            expressed in human bone; and causes varying phenotypic severity of
            osteogenesis imperfecta type V
  JOURNAL   BMC Musculoskelet Disord 15, 107 (2014)
   PUBMED   24674092
  REMARK    GeneRIF: The IFITM5 5' UTR was sequenced in 9 heterozygous subjects
            with osteogenesis imperfecta type V. Both wild-type and mutant
            IFITM5 mRNA transcripts were present in bone. Identical mutations
            have variable phenotypic expression, even within the same family.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 736)
  AUTHORS   Sallman Almen M, Bringeland N, Fredriksson R and Schioth HB.
  TITLE     The dispanins: a novel gene family of ancient origin that contains
            14 human members
  JOURNAL   PLoS One 7 (2), e31961 (2012)
   PUBMED   22363774
REFERENCE   7  (bases 1 to 736)
  AUTHORS   Siegrist F, Ebeling M and Certa U.
  TITLE     The small interferon-induced transmembrane genes and proteins
  JOURNAL   J Interferon Cytokine Res 31 (1), 183-197 (2011)
   PUBMED   21166591
  REMARK    Review article
REFERENCE   8  (bases 1 to 736)
  AUTHORS   Moffatt P, Gaumond MH, Salois P, Sellin K, Bessette MC, Godin E, de
            Oliveira PT, Atkins GJ, Nanci A and Thomas G.
  TITLE     Bril: a novel bone-specific modulator of mineralization
  JOURNAL   J Bone Miner Res 23 (9), 1497-1508 (2008)
   PUBMED   18442316
REFERENCE   9  (bases 1 to 736)
  AUTHORS   Lange UC, Saitou M, Western PS, Barton SC and Surani MA.
  TITLE     The fragilis interferon-inducible gene family of transmembrane
            proteins is associated with germ cell specification in mice
  JOURNAL   BMC Dev Biol 3, 1 (2003)
   PUBMED   12659663
REFERENCE   10  (bases 1 to 736)
  AUTHORS   Baird JW, Ryan KM, Hayes I, Hampson L, Heyworth CM, Clark A, Wootton
            M, Ansell JD, Menzel U, Hole N and Graham GJ.
  TITLE     Differentiating embryonal stem cells are a rich source of
            haemopoietic gene products and suggest erythroid preconditioning of
            primitive haemopoietic stem cells
  JOURNAL   J Biol Chem 276 (12), 9189-9198 (2001)
   PUBMED   11106657
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CR747200.1, AA463818.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2156099
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000382614.2/ ENSP00000372059.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CR747200.1, BC150562.1,
            BQ574249.1 and AA460254.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001025295.2.
            Summary: This gene encodes a membrane protein thought to play a
            role in bone mineralization. This gene is located on chromosome 11
            in a cluster of related genes which are induced by interferon,
            however, this gene has not been shown to be interferon inducible. A
            similar gene, located in a gene cluster on mouse chromosome 7, is a
            member of the interferon-inducible fragilis gene family. The mouse
            gene encodes a transmembrane protein described as participating in
            germ cell competence. A mutation in the 5' UTR of this gene has
            been associated with osteogenesis imperfecta type V (PMID:
            22863190, 22863195). [provided by RefSeq, Aug 2012].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..736
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..736
                     /gene="IFITM5"
                     /gene_synonym="BRIL; DSPA1; fragilis4; Hrmp1; OI5"
                     /note="interferon induced transmembrane protein 5"
                     /db_xref="GeneID:387733"
                     /db_xref="HGNC:HGNC:16644"
                     /db_xref="MIM:614757"
     CDS             37..435
                     /gene="IFITM5"
                     /gene_synonym="BRIL; DSPA1; fragilis4; Hrmp1; OI5"
                     /note="bone-restricted interferon-induced transmembrane
                     protein-like protein; dispanin subfamily A member 1;
                     bone-restricted ifitm-like protein"
                     /codon_start=1
                     /product="interferon-induced transmembrane protein 5"
                     /protein_id="NP_001020466.1"
                     /db_xref="CCDS:CCDS31323.1"
                     /db_xref="GeneID:387733"
                     /db_xref="HGNC:HGNC:16644"
                     /db_xref="MIM:614757"
                     /translation="MDTAYPREDTRAPTPSKAGAHTALTLGAPHPPPRDHLIWSVFSTL
                     YLNLCCLGFLALAYSIKARDQKVVGDLEAARRFGSKAKCYNILAAMWTLVPPLLLLGLV
                     VTGALHLARLAKDSAAFFSTKFDDADYD"
     misc_feature    37..99
                     /gene="IFITM5"
                     /gene_synonym="BRIL; DSPA1; fragilis4; Hrmp1; OI5"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NNB3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    145..207
                     /gene="IFITM5"
                     /gene_synonym="BRIL; DSPA1; fragilis4; Hrmp1; OI5"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NNB3.1);
                     transmembrane region"
     misc_feature    295..357
                     /gene="IFITM5"
                     /gene_synonym="BRIL; DSPA1; fragilis4; Hrmp1; OI5"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NNB3.1);
                     transmembrane region"
ORIGIN
        1 accagtctga gtgtggaaga gacggcgctg gaacccatgg acacggcgta tccccgcgag
       61 gacacccggg cccccacgcc cagcaaggcc ggtgcccaca cagccctcac actgggggcc
      121 ccgcaccccc cgcctcgaga ccacttgatc tggtcggtgt tcagcaccct ctacctgaat
      181 ctgtgttgcc tcggcttcct ggcgctggcc tactccatca aggcccgaga tcagaaggtg
      241 gttggtgacc tggaagcggc ccggcgtttt ggctccaaag ccaagtgcta caacatcctg
      301 gccgcgatgt ggacgctggt gccgccactg ctgctcctgg ggctggtggt gactggtgcc
      361 ctgcacctgg cccggctggc caaggactct gccgccttct tcagcaccaa gtttgatgac
      421 gcggactatg actgacaggc tgggtcctga tctggggcac tagccccagg acactgaccc
      481 caggctgctg cccctggggc ccaatactga ctccccggag cctggccctc cttctgtggg
      541 gcctccatcc ctgccccatc ctgatcctgg ggccctccag ccccaacatg ggcacctaag
      601 gctgaaccag tcagaccccg gggtcttcac cctaacccga gagttcccgg gccctaactc
      661 tgcccccgat cctgcccctc cctcctcaca ctccaggccc ctcggttcca cgattaaaag
      721 tgcctggttc cagaaa
//
LOCUS       NM_001025300            2147 bp    mRNA    linear   PRI 19-JUN-2023
DEFINITION  Homo sapiens RAB12, member RAS oncogene family (RAB12), mRNA.
ACCESSION   NM_001025300
VERSION     NM_001025300.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2147)
  AUTHORS   Ito G, Tomita T and Utsunomiya-Tate N.
  TITLE     LRRK2-mediated phosphorylation and thermal stability of Rab12 are
            regulated by bound nucleotides
  JOURNAL   Biochem Biophys Res Commun 667, 43-49 (2023)
   PUBMED   37207563
  REMARK    GeneRIF: LRRK2-mediated phosphorylation and thermal stability of
            Rab12 are regulated by bound nucleotides.
REFERENCE   2  (bases 1 to 2147)
  AUTHORS   Wang J, Lau PK, Li CW and Guo Y.
  TITLE     The clathrin adaptor complex-1 and Rab12 regulate post-golgi
            trafficking of WT epidermal growth factor receptor (EGFR)
  JOURNAL   J Biol Chem 299 (3), 102979 (2023)
   PUBMED   36739948
  REMARK    GeneRIF: The clathrin adaptor complex-1 and Rab12 regulate
            post-golgi trafficking of WT epidermal growth factor receptor
            (EGFR).
REFERENCE   3  (bases 1 to 2147)
  AUTHORS   Xu J, Kozlov G, McPherson PS and Gehring K.
  TITLE     A PH-like domain of the Rab12 guanine nucleotide exchange factor
            DENND3 binds actin and is required for autophagy
  JOURNAL   J Biol Chem 293 (12), 4566-4574 (2018)
   PUBMED   29352104
  REMARK    GeneRIF: show that DENND3 binds actin through a surface of
            positively charged residues on the PHenn domain of Ran12
REFERENCE   4  (bases 1 to 2147)
  AUTHORS   Xu J and McPherson PS.
  TITLE     Regulation of DENND3, the exchange factor for the small GTPase Rab12
            through an intramolecular interaction
  JOURNAL   J Biol Chem 292 (17), 7274-7282 (2017)
   PUBMED   28249939
  REMARK    GeneRIF: DENND3 is the exchange factor for the small GTPase Rab12
            regulated through an intramolecular interaction
REFERENCE   5  (bases 1 to 2147)
  AUTHORS   Steger M, Tonelli F, Ito G, Davies P, Trost M, Vetter M, Wachter S,
            Lorentzen E, Duddy G, Wilson S, Baptista MA, Fiske BK, Fell MJ,
            Morrow JA, Reith AD, Alessi DR and Mann M.
  TITLE     Phosphoproteomics reveals that Parkinson's disease kinase LRRK2
            regulates a subset of Rab GTPases
  JOURNAL   Elife 5, e12813 (2016)
   PUBMED   26824392
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2147)
  AUTHORS   Xu J, Fotouhi M and McPherson PS.
  TITLE     Phosphorylation of the exchange factor DENND3 by ULK in response to
            starvation activates Rab12 and induces autophagy
  JOURNAL   EMBO Rep 16 (6), 709-718 (2015)
   PUBMED   25925668
  REMARK    GeneRIF: a novel signaling pathway identified whereby
            starvation-induced activation of ULK leads to phosphorylation of
            endogenous DENND3, with subsequent activation of Rab12 and
            initiation of membrane trafficking events required for autophagy
REFERENCE   7  (bases 1 to 2147)
  AUTHORS   Rydell GE, Renard HF, Garcia-Castillo MD, Dingli F, Loew D, Lamaze
            C, Romer W and Johannes L.
  TITLE     Rab12 localizes to Shiga toxin-induced plasma membrane invaginations
            and controls toxin transport
  JOURNAL   Traffic 15 (7), 772-787 (2014)
   PUBMED   24703428
  REMARK    GeneRIF: findings demonstrate the functional importance of Rab12 for
            retrograde toxin trafficking
REFERENCE   8  (bases 1 to 2147)
  AUTHORS   Yoshimura S, Gerondopoulos A, Linford A, Rigden DJ and Barr FA.
  TITLE     Family-wide characterization of the DENN domain Rab GDP-GTP exchange
            factors
  JOURNAL   J Cell Biol 191 (2), 367-381 (2010)
   PUBMED   20937701
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC050338.1, SRR12921934.241200.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000649141.2/ ENSP00000497886.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001793.5.
            On Nov 9, 2020 this sequence version replaced NM_001025300.2.
FEATURES             Location/Qualifiers
     source          1..2147
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.22"
     gene            1..2147
                     /gene="RAB12"
                     /note="RAB12, member RAS oncogene family"
                     /db_xref="GeneID:201475"
                     /db_xref="HGNC:HGNC:31332"
                     /db_xref="MIM:616448"
     CDS             4..1026
                     /gene="RAB12"
                     /note="putative Ras-related protein Rab-12"
                     /codon_start=1
                     /product="ras-related protein Rab-12"
                     /protein_id="NP_001020471.3"
                     /db_xref="CCDS:CCDS42410.2"
                     /db_xref="GeneID:201475"
                     /db_xref="HGNC:HGNC:31332"
                     /db_xref="MIM:616448"
                     /translation="MLLPLLRSSCFPSSSPGGGGGSGGGGGGGDPGAESRPAAQLQRGA
                     HGPPGPLQRAEAEPGADPPRAAEAEGAPGPGARSRGAGGGGRRAEREPHACMDPGAALQ
                     RRAGGGGGLGAGSPALSGGQGRRRKQPPRPADFKLQVIIIGSRGVGKTSLMERFTDDTF
                     CEACKSTVGVDFKIKTVELRGKKIRLQIWDTAGQERFNSITSAYYRSAKGIILVYDITK
                     KETFDDLPKWMKMIDKYASEDAELLLVGNKLDCETDREITRQQGEKFAQQITGMRFCEA
                     SAKDNFNVDEIFLKLVDDILKKMPLDILRNELSNSILSLQPEPEIPPELPPPRPHVRCC
                     "
     regulatory      2122..2127
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB12"
                     /note="hexamer: AATAAA"
     polyA_site      2147
                     /gene="RAB12"
                     /note="major polyA site"
ORIGIN
        1 gggatgctgc tgccgctact gcggagtagc tgcttccctt cctcctctcc cggcggcggc
       61 ggcggcagcg gcggaggagg aggaggaggg gacccgggcg cagagagccg gccggcggcg
      121 cagttgcagc gcggagccca cgggccgccg gggccgctcc agcgggcgga agccgagccc
      181 ggggccgacc ccccgcgcgc ggcggaggcc gagggggcgc cggggcccgg ggcgcgcagc
      241 cggggggcgg gcggcggcgg gcggcgggcc gagcgggagc cgcatgcgtg tatggatccg
      301 ggcgccgcgc tgcagaggcg ggccgggggc ggcggcggtc tgggcgcggg ctccccggcg
      361 ctgtcgggcg gccagggccg ccggaggaag cagcccccca ggccggccga cttcaagttg
      421 caggtcatca ttatcggctc ccgcggcgtg ggcaagacca gcctgatgga gcgcttcacc
      481 gacgacacct tctgcgaggc ctgcaagtcc accgtgggtg ttgacttcaa aatcaaaact
      541 gtagagctaa gaggaaagaa aattagatta cagatctggg acacagcagg tcaggagaga
      601 ttcaacagca ttacctcagc ttattacaga agtgccaagg ggatcatatt agtatatgat
      661 atcactaaga aggagacatt tgatgatttg ccgaaatgga tgaagatgat tgataagtat
      721 gcttcagaag atgcagagct tctcttagtt ggaaataagt tggactgtga aacggacaga
      781 gaaatcacca ggcagcaggg ggaaaagttt gcacagcaga tcactgggat gcggttctgt
      841 gaagcaagtg ccaaggataa cttcaatgtg gacgagatat ttttgaaact tgtcgatgac
      901 attctgaaaa agatgcctct ggatatttta aggaatgagt tgtccaatag tatcctgtcg
      961 ttacaaccag agcctgagat accgccagaa ctgcctccac caagaccaca tgtccgatgc
     1021 tgttgatttc ctactttgga gacaaagtgg aaatgattcc tggaaagggg aaaaaacgtt
     1081 ctattctgca ctacaatcat tttgacaatt tcctttcgca ctttgtaatc caagtcagag
     1141 ctatacacta acttgtaaat atgcatatat gcaatcctgg gtaagttttg gttataagtt
     1201 acctatttcc ctccaaatta ttatatttca ttcattaccc cagtgtctag tgtacataca
     1261 ctgggaaacc tagtacttct aatatgaaga atgggagaaa tgaaaggtat aatgtttctt
     1321 gaaataaata atataattgt ccttattaat tatattatga ggacagaaga tattctgata
     1381 agagagaacg tggtgctttg cttaccgttt taaagaaaat ttgtaaaact aaagactttt
     1441 tgaaaaaaag ctatcttaag tgctttttct ttatttacaa gacatttccc ccagtggtag
     1501 catctgaagt attggagtgt ttctgccacg aagcaaagct ccattcatgg ccgtcatgga
     1561 aggttattta ttaatgttac ataatggtag aatattacta gttagagggt tggatttgac
     1621 ttggtcctaa ggccacagaa tctctctcat ggcttcctaa gggatgtacc tttatgcttt
     1681 taagaactac aaagattcaa taaagaaaga aatgtttttg aaactataga aaaagatttt
     1741 aaaacacgct gctgtcctaa acaaatcctg tttaaaggaa ttttaaagag atgcatttta
     1801 ctatatcaaa gaacatacgt gtatttgcct aaacactctg tacctttgta atgataaaac
     1861 ttcccccttc tttacggtga agcttattct gattaagcct agactgtgtt cttttttttt
     1921 tttttttttt tttttttttt tttttttttt ttttttggtc tgatgatgaa tttgtgaact
     1981 ctatctttgg tatatctttt attaaactgc actgttttgt ttagtcaagg taattaagta
     2041 attatgtatt tgaataactt ggtgtgtctt gagtgttgtg gtatgaaaag cattgtggtc
     2101 tttctacact aatgaagtgc aaataaaatt ttgtatttat gaatgaa
//
LOCUS       NM_001025356            5998 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens anoctamin 6 (ANO6), transcript variant 1, mRNA.
ACCESSION   NM_001025356
VERSION     NM_001025356.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5998)
  AUTHORS   Zhang Y, Liang P, Yang L, Shan KZ, Feng L, Chen Y, Liedtke W, Coyne
            CB and Yang H.
  TITLE     Functional coupling between TRPV4 channel and TMEM16F modulates
            human trophoblast fusion
  JOURNAL   Elife 11, e78840 (2022)
   PUBMED   35670667
  REMARK    GeneRIF: Functional coupling between TRPV4 channel and TMEM16F
            modulates human trophoblast fusion. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5998)
  AUTHORS   Hernandez-Clavijo A, Gonzalez-Velandia KY, Rangaswamy U, Guarneri G,
            Boscolo-Rizzo P, Tofanelli M, Gardenal N, Sanges R, Dibattista M,
            Tirelli G and Menini A.
  TITLE     Supporting Cells of the Human Olfactory Epithelium Co-Express the
            Lipid Scramblase TMEM16F and ACE2 and May Cause Smell Loss by
            SARS-CoV-2 Spike-Induced Syncytia
  JOURNAL   Cell Physiol Biochem 56 (3), 254-269 (2022)
   PUBMED   35670331
  REMARK    GeneRIF: Supporting Cells of the Human Olfactory Epithelium
            Co-Express the Lipid Scramblase TMEM16F and ACE2 and May Cause Smell
            Loss by SARS-CoV-2 Spike-Induced Syncytia.
REFERENCE   3  (bases 1 to 5998)
  AUTHORS   Yu H, Wang Z, Li Z, An Y, Yan M, Ji S, Xu M, Wang L, Dong W, Shi J
            and Gao C.
  TITLE     Hyperuricemia enhances procoagulant activity of vascular endothelial
            cells through TMEM16F regulated phosphatidylserine exposure and
            microparticle release
  JOURNAL   FASEB J 35 (9), e21808 (2021)
   PUBMED   34390515
  REMARK    GeneRIF: Hyperuricemia enhances procoagulant activity of vascular
            endothelial cells through TMEM16F regulated phosphatidylserine
            exposure and microparticle release.
REFERENCE   4  (bases 1 to 5998)
  AUTHORS   Deisl C, Hilgemann DW, Syeda R and Fine M.
  TITLE     TMEM16F and dynamins control expansive plasma membrane reservoirs
  JOURNAL   Nat Commun 12 (1), 4990 (2021)
   PUBMED   34404808
  REMARK    GeneRIF: TMEM16F and dynamins control expansive plasma membrane
            reservoirs. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5998)
  AUTHORS   Braga L, Ali H, Secco I, Chiavacci E, Neves G, Goldhill D, Penn R,
            Jimenez-Guardeno JM, Ortega-Prieto AM, Bussani R, Cannata A, Rizzari
            G, Collesi C, Schneider E, Arosio D, Shah AM, Barclay WS, Malim MH,
            Burrone J and Giacca M.
  TITLE     Drugs that inhibit TMEM16 proteins block SARS-CoV-2 spike-induced
            syncytia
  JOURNAL   Nature 594 (7861), 88-93 (2021)
   PUBMED   33827113
REFERENCE   6  (bases 1 to 5998)
  AUTHORS   Castoldi,E., Collins,P.W., Williamson,P.L. and Bevers,E.M.
  TITLE     Compound heterozygosity for 2 novel TMEM16F mutations in a patient
            with Scott syndrome
  JOURNAL   Blood 117 (16), 4399-4400 (2011)
   PUBMED   21511967
  REMARK    GeneRIF: Study identified 2 novel mutations in the TMEM16F gene in 2
            patients with Scott syndrome.
REFERENCE   7  (bases 1 to 5998)
  AUTHORS   Hartzell HC, Yu K, Xiao Q, Chien LT and Qu Z.
  TITLE     Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels
  JOURNAL   J Physiol 587 (Pt 10), 2127-2139 (2009)
   PUBMED   19015192
  REMARK    Review article
REFERENCE   8  (bases 1 to 5998)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   9  (bases 1 to 5998)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of TMEM16E and TMEM16F genes in
            silico
  JOURNAL   Int J Oncol 24 (5), 1345-1349 (2004)
   PUBMED   15067359
REFERENCE   10  (bases 1 to 5998)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH,
            Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC098410.1, SRR1660807.198767.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000320560.13/ ENSP00000320087.8
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK126409.1, BC098410.1,
            AL833405.1 and AA332109.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001025356.2.
            Summary: This gene encodes a multi-pass transmembrane protein that
            belongs to the anoctamin family. This protein is an essential
            component for the calcium-dependent exposure of phosphatidylserine
            on the cell surface. The scrambling of phospholipid occurs in
            various biological systems, such as when blood platelets are
            activated, they expose phosphatidylserine to trigger the clotting
            system. Mutations in this gene are associated with Scott syndrome.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene.[provided by RefSeq, Mar
            2011].
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5998
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q12"
     gene            1..5998
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="anoctamin 6"
                     /db_xref="GeneID:196527"
                     /db_xref="HGNC:HGNC:25240"
                     /db_xref="MIM:608663"
     CDS             228..2960
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="isoform a is encoded by transcript variant 1;
                     transmembrane protein 16F; SCAN channel; small-conductance
                     calcium-activated nonselective cation channel"
                     /codon_start=1
                     /product="anoctamin-6 isoform a"
                     /protein_id="NP_001020527.2"
                     /db_xref="CCDS:CCDS31782.1"
                     /db_xref="GeneID:196527"
                     /db_xref="HGNC:HGNC:25240"
                     /db_xref="MIM:608663"
                     /translation="MKKMSRNVLLQMEEEEDDDDGDIVLENLGQTIVPDLGSLESQHDF
                     RTPEFEEFNGKPDSLFFNDGQRRIDFVLVYEDESRKETNKKGTNEKQRRKRQAYESNLI
                     CHGLQLEATRSVLDDKLVFVKVHAPWEVLCTYAEIMHIKLPLKPNDLKNRSSAFGTLNW
                     FTKVLSVDESIIKPEQEFFTAPFEKNRMNDFYIVDRDAFFNPATRSRIVYFILSRVKYQ
                     VINNVSKFGINRLVNSGIYKAAFPLHDCKFRRQSEDPSCPNERYLLYREWAHPRSIYKK
                     QPLDLIRKYYGEKIGIYFAWLGYYTQMLLLAAVVGVACFLYGYLNQDNCTWSKEVCHPD
                     IGGKIIMCPQCDRLCPFWKLNITCESSKKLCIFDSFGTLVFAVFMGVWVTLFLEFWKRR
                     QAELEYEWDTVELQQEEQARPEYEARCTHVVINEITQEEERIPFTAWGKCIRITLCASA
                     VFFWILLIIASVIGIIVYRLSVFIVFSAKLPKNINGTDPIQKYLTPQTATSITASIISF
                     IIIMILNTIYEKVAIMITNFELPRTQTDYENSLTMKMFLFQFVNYYSSCFYIAFFKGKF
                     VGYPGDPVYWLGKYRNEECDPGGCLLELTTQLTIIMGGKAIWNNIQEVLLPWIMNLIGR
                     FHRVSGSEKITPRWEQDYHLQPMGKLGLFYEYLEMIIQFGFVTLFVASFPLAPLLALVN
                     NILEIRVDAWKLTTQFRRLVPEKAQDIGAWQPIMQGIAILAVVTNAMIIAFTSDMIPRL
                     VYYWSFSVPPYGDHTSYTMEGYINNTLSIFKVADFKNKSKGNPYSDLGNHTTCRYRDFR
                     YPPGHPQEYKHNIYYWHVIAAKLAFIIVMEHVIYSVKFFISYAIPDVSKRTKSKIQREK
                     YLTQKLLHENHLKDMTKNMGVIAERMIEAVDNNLRPKSE"
     misc_feature    1128..1190
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4KMQ2.2);
                     transmembrane region"
     misc_feature    1212..1214
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q4KMQ2.2); glycosylation site"
     misc_feature    1308..1310
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q4KMQ2.2); glycosylation site"
     misc_feature    1353..1415
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4KMQ2.2);
                     transmembrane region"
     misc_feature    1593..1655
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4KMQ2.2);
                     transmembrane region"
     misc_feature    1704..1706
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q4KMQ2.2); glycosylation site"
     misc_feature    1755..1817
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4KMQ2.2);
                     transmembrane region"
     misc_feature    1881..1943
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4KMQ2.2);
                     transmembrane region"
     misc_feature    2031..2090
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4KMQ2.2);
                     transmembrane region"
     misc_feature    2217..2279
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4KMQ2.2);
                     transmembrane region"
     misc_feature    2280..2342
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4KMQ2.2);
                     transmembrane region"
     misc_feature    2394..2456
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4KMQ2.2);
                     transmembrane region"
     misc_feature    2556..2558
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q4KMQ2.2); glycosylation site"
     misc_feature    2595..2597
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q4KMQ2.2); glycosylation site"
     misc_feature    2631..2633
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q4KMQ2.2); glycosylation site"
     misc_feature    2736..2798
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4KMQ2.2);
                     transmembrane region"
     regulatory      5976..5981
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="hexamer: AATAAA"
     polyA_site      5998
                     /gene="ANO6"
                     /gene_synonym="BDPLT7; SCTS; TMEM16F"
                     /note="major polyA site"
ORIGIN
        1 agtctccggg ctccgctcgg caggcgagag gcgtcctccg gctctgggct ccggtcggtg
       61 ggtgcctcgg ctcggctttc cccggcgctg gctgggctca gcggcccctg agcccaagcg
      121 acacacgccc cgcggtcccc gatccggccc ctgggagagc cgcgccgttc tggaacccgg
      181 gagcccccaa cttcgcgcca agttcggagc cgccttctga gggagacatg aaaaagatga
      241 gcaggaatgt tttgctacaa atggaggagg aggaggacga cgacgatggg gatatcgtgt
      301 tggaaaacct tggacagaca attgtccccg atttgggatc actggaaagt cagcatgatt
      361 ttcgaacccc ggagtttgaa gaatttaatg gaaaacctga ctccctcttt tttaatgatg
      421 gccagcgaag aattgacttt gttctagtat atgaggatga aagcagaaaa gagaccaata
      481 aaaagggtac aaatgaaaaa caaaggagga aaagacaagc atacgaatct aaccttatct
      541 gtcatggcct gcagttagaa gcaacaagat cagtattgga tgacaagctt gtatttgtaa
      601 aagtacacgc accatgggag gtgttatgta cgtatgctga gataatgcac atcaaattgc
      661 ctctgaaacc caatgatctg aaaaaccggt cctcagcctt tggtacactc aactggttta
      721 ccaaagtcct cagtgtagac gaaagcatca tcaagccaga gcaagagttt ttcactgccc
      781 catttgagaa gaaccggatg aatgattttt acatagttga tagagatgct ttcttcaatc
      841 cagccaccag aagccgcatt gtttacttca tcctctctcg ggtcaagtat caagtgataa
      901 acaatgttag caagtttggg atcaacagac ttgtaaactc tgggatctac aaggcagctt
      961 tcccactcca tgattgcaaa ttccgccgtc agtcagagga tcccagctgc cctaatgaac
     1021 ggtaccttct gtacagagaa tgggctcatc ctcgaagcat atacaaaaag cagcccttgg
     1081 atcttatcag gaaatactat ggagagaaga ttggaatcta ctttgcttgg ctgggctatt
     1141 acactcagat gcttctcctg gccgcagttg taggagtggc ttgctttctc tatggatatc
     1201 ttaatcaaga taactgtaca tggagcaaag aagtttgtca tcctgatatt ggtggcaaga
     1261 tcataatgtg tcctcagtgt gataggcttt gtccattctg gaaactcaat attacttgcg
     1321 agtcctcaaa gaaattgtgc atcttcgaca gttttggaac cctggtcttt gcagtattta
     1381 tgggagtatg ggttaccttg tttttggagt tttggaagcg acgccaggca gaacttgagt
     1441 atgaatggga tactgttgag ttacagcagg aagaacaagc ccgaccagaa tacgaagcac
     1501 gatgtactca cgtagtgata aatgagatta ctcaggaaga agaacgcatt ccctttactg
     1561 cctggggaaa atgtatacgg ataaccctct gtgccagtgc tgtctttttc tggatcctat
     1621 tgatcatcgc ttcagttatt gggatcattg tctataggct ctcggtgttc attgtatttt
     1681 ctgcaaaact tcccaagaac attaatggaa cagacccaat ccagaaatac ctgactccac
     1741 agacagccac gtccatcacg gcctccatca tcagctttat aattatcatg attctgaaca
     1801 ccatatatga aaaagtggca attatgatta ctaacttcga actcccaagg acccagactg
     1861 attatgagaa cagcctcacc atgaagatgt tcttattcca gtttgtcaac tactactctt
     1921 catgcttcta catagcattc tttaagggca aatttgtagg ctatccagga gacccagttt
     1981 attggttggg aaaatacaga aatgaagagt gtgacccagg tggctgtctt cttgaactga
     2041 caactcagct gacaataatc atgggaggaa aagcaatctg gaataacata caagaagtat
     2101 tattgccctg gatcatgaat ctaattgggc gatttcacag agtttctgga tcagaaaaga
     2161 taaccccacg atgggaacag gactaccatc tgcagcctat gggcaaactg ggattatttt
     2221 atgaatatct tgaaatgatt attcagtttg ggttcgtcac cttatttgtg gcctcttttc
     2281 cactggcccc tctgttggct ctcgtgaaca atatattgga aataagagtg gacgcatgga
     2341 aactgaccac ccagtttaga cgcctggtac cagagaaagc ccaagacatt ggagcatggc
     2401 agcccatcat gcaaggaata gcaattctgg ctgtggtgac caatgccatg atcatagctt
     2461 tcacgtcgga catgatcccc cgcctagtgt actactggtc cttctccgtc cctccctacg
     2521 gggaccacac ttcctacacc atggaagggt acatcaacaa cactctctcc atcttcaaag
     2581 tcgcagactt caaaaacaaa agcaagggaa acccgtactc tgacctgggt aaccatacca
     2641 catgcaggta tcgtgatttc cgatacccac ctggacaccc ccaggagtat aaacacaaca
     2701 tctactattg gcatgtgatt gcagccaagc tggcttttat cattgtcatg gagcacgtca
     2761 tctactctgt gaaatttttc atttcatatg caattcccga tgtatcaaaa cgcacaaaga
     2821 gcaagatcca gagagaaaaa tacctaaccc aaaagcttct tcatgagaat cacctcaaag
     2881 atatgacgaa aaatatgggg gtgatagctg agcggatgat agaagcagta gataacaatt
     2941 tacggccaaa atcagaataa gagctttatg ttctgagaag cactttaagg aatttagctt
     3001 tgtcaaaata tattaggaat cactaatgag aatgtgtaag ttaaatcact ttggcaaata
     3061 tgagtctcaa ctattgccat ttcctcatgt attatttttc agtttcagct agcgatgcag
     3121 aaactggaaa atgtaaaact tagatcatga agggcataaa acttatcacc cggaaaacct
     3181 caatgttacc tttttctgat aaattggaat tttacagaaa aagtccctca gtgtgcttaa
     3241 aaaccacccc ttctaaagta gaatggattc ttttttttct gtttgattat tttcatttct
     3301 gtctattctc aggcgcatga tctcctttat ttttaagcca tgtttcattt cttcacttgg
     3361 ctagatctgt tccagggtca tcttttcctt acagtaccat cattatagat ttaatttaat
     3421 agctttcatg tgattaaaaa tagctaacta gactcaagga ttcacaatat ttaggtgtat
     3481 tttcaatacc tccagaaagg aaacctcagt taatcagagg aaatagtttc agtcttcatt
     3541 tgagcatgtc tttccatctc aaaaaaatac tcttagtagg ttggagtgaa gatagcaagg
     3601 ttttgaagca tatttgtcct aatccacagt gacacttttt atcttccagg agcactccta
     3661 ggaggttccg tgcctaatca atgttgactg ctttgcagat ctcaagggaa taaaatgaca
     3721 aaagcaggga aagttacaga ttcaaacagc attttaactc atgttgatct ggataattaa
     3781 tcttttctaa agatgtgtag tttcttggaa aacagtgata tcacatgatt aaaattacat
     3841 ttttatcaac ataattgtct ggaaaagata agcccctcaa ttttctacca gttgactttt
     3901 attcattaga tacagaaggt gcagtattac acatcaccag ctgcctttgt gaatggctca
     3961 ctacacagcc attggggtac aactgtgtgc atgggcagaa acagcaagtg ccctcattgt
     4021 ggtcattggg tggggagtgc cttttgtcaa ggagtctgca ggaattggct tatttctgta
     4081 tgccaaagtg atcaacacac caaagtctct gccataaaga atgtggcttc cttgcatcct
     4141 ccatcctgtt actctgggcc cagtaatttg atgtaactgt ctgattgtac tagagacagg
     4201 agtataccca gcttattcat aatcaagtaa agagactcag attagatttg attttttagc
     4261 ctcctctaga gccaatcagg cagttaagag taataaagga aaagggtttg gtcacaaacc
     4321 ctaccattat ctggagatta cttcctgctg cactcctgtc ttgccatgca cgtcttgccc
     4381 cctcactttt gctcagccta gcagtctact tcactttatt gccttgtaag tgtcaggcct
     4441 cctgggcgct ctggaaaaga cagggagcca ggccctctca cccctactgg taacaggtca
     4501 ttgctgggtg cacaagaggg aggtgatttg catcatggtc atgctgcatg ggcttcactg
     4561 ggatgctgtt aaacaccaga ggagccaacc tatcagaatc ccagcagcaa aggaaaactc
     4621 agattttaga ggctttttac aataaagtag cgtaactcta ggtcatgatt gatttcaaat
     4681 gcctgccatg aatgatttgt aagtaattat gtaggatcca tcaaagcagt attgtaggct
     4741 tttgaattgt cccagtggat ccgggacccc atttcactgt ctctcttgat cgtgttaatg
     4801 atgcaatcag agttcaagac aggccccatg aagtctgact gcactgggat ggagaaatga
     4861 atttcttccc actgaaggaa actctttctc attcgcagcc aagacgggag tgccactgtt
     4921 cctctcttca ctcctgagat actgcttctg gaagcgggtg tcacttcctc tctagtacct
     4981 cttctcttct ctgaagtgtg tgactatctc ctagtgttta aatttggcag ttactcgcca
     5041 tgtatgtcag catagaaaag gaaatgtttt taccttatct cctgtatgta tgatagaact
     5101 taaaagaaat gtgcatttgt tttcatagcc ccagcagaga aaatcctctt catagattaa
     5161 atgtgctgct gtggacagga ggggaaaaaa aaccctctac atattgaaag gcaccaaatg
     5221 taatatctga cactgttaag atgcccaaaa gagcaaagtt gtagtggaga tgcagggtca
     5281 tttccccatg ccatccacag tgtttgttag tgagtccacg gctgacttgc agtgataaag
     5341 aaaagcatgg agctgtgtct gcagacaatg gtggctgcat ctgtaagtgg cttcagaggc
     5401 agcagccctg gggaaattga tgggtgtggc agtggacctg tgaagaggga gaatctagcc
     5461 ttcagcctgt ccagtgttaa ccactagaga aactgagctt tatatccttt tttaatgcct
     5521 gtgaatttta gcatattgaa acattagagc aaatactcag gggatttttc attaaacatc
     5581 cctcagataa tttagctata tatcattaga aagggaaagc tatcattttt attttaaaac
     5641 taaacaaggc catcttataa actgtcacca aagtcttccc ttttttattg catgtgtgcc
     5701 ttgaatttca taaaacatta attcacaatg ggggtcagaa tgtactcttg ttgaaacact
     5761 tcttgtacca ttttatgttc atattatgtt tgagagggta aaaatgtatg agcagcttaa
     5821 ctgaagtaga actattcatg atgcttttca cacattgtgg cataagatgt aaagtttgta
     5881 attaatgtta atttctgtgc attttaatat tcttttataa ttattaatgt taatttctgt
     5941 gcattttaat attcttttat aattatgagc attttaataa attcattttt acaaacaa
//
LOCUS       NM_001025357            2291 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens alanine and arginine rich domain containing protein
            (AARD), mRNA.
ACCESSION   NM_001025357
VERSION     NM_001025357.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2291)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2291)
  AUTHORS   Geng Q, Ni LW, Ouyang B, Hu YH, Zhao Y and Guo J.
  TITLE     Alanine and arginine rich domain containing protein, Aard, is
            directly regulated by androgen receptor in mouse Sertoli cells
  JOURNAL   Mol Med Rep 15 (1), 352-358 (2017)
   PUBMED   27959439
REFERENCE   3  (bases 1 to 2291)
  AUTHORS   Feng T and Zhu X.
  TITLE     Genome-wide searching of rare genetic variants in WTCCC data
  JOURNAL   Hum Genet 128 (3), 269-280 (2010)
   PUBMED   20549515
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC142621.1, SRR7346977.252154.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378279.4/ ENSP00000367528.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC087350.3, BC140924.1, AB181519.1 and BC142621.1.
            On May 17, 2019 this sequence version replaced NM_001025357.2.
FEATURES             Location/Qualifiers
     source          1..2291
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.11"
     gene            1..2291
                     /gene="AARD"
                     /gene_synonym="C8orf85"
                     /note="alanine and arginine rich domain containing protein"
                     /db_xref="GeneID:441376"
                     /db_xref="HGNC:HGNC:33842"
     misc_feature    20..22
                     /gene="AARD"
                     /gene_synonym="C8orf85"
                     /note="upstream in-frame stop codon"
     CDS             38..505
                     /gene="AARD"
                     /gene_synonym="C8orf85"
                     /codon_start=1
                     /product="alanine and arginine-rich domain-containing
                     protein"
                     /protein_id="NP_001020528.1"
                     /db_xref="CCDS:CCDS34935.1"
                     /db_xref="GeneID:441376"
                     /db_xref="HGNC:HGNC:33842"
                     /translation="MGPGDFRRCRERISQGLQGLPGRAELWFPPRPACDFFGDGRSTDI
                     QEEALAASPLLEDLRRRLTRAFQWAVQRAISRRVQEAAAAAAAREEQSWTGVEATLARL
                     RAELVEMHFQNHQLARTLLDLNMKVQQLKKEYELEITSDSQSPKDDAANPE"
     regulatory      1781..1786
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AARD"
                     /gene_synonym="C8orf85"
                     /note="hexamer: AATAAA"
     polyA_site      1804
                     /gene="AARD"
                     /gene_synonym="C8orf85"
                     /note="major polyA site"
     regulatory      1876..1881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AARD"
                     /gene_synonym="C8orf85"
                     /note="hexamer: AATAAA"
     regulatory      1883..1888
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AARD"
                     /gene_synonym="C8orf85"
                     /note="hexamer: TATAAA"
     polyA_site      1893
                     /gene="AARD"
                     /gene_synonym="C8orf85"
     polyA_site      1914
                     /gene="AARD"
                     /gene_synonym="C8orf85"
     regulatory      2253..2258
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AARD"
                     /gene_synonym="C8orf85"
                     /note="hexamer: AATAAA"
     polyA_site      2274
                     /gene="AARD"
                     /gene_synonym="C8orf85"
ORIGIN
        1 agcagcagcg gtagagcagt gaccaggcgt ctccgcgatg ggccccgggg acttccgccg
       61 ctgcagagag agaatttccc aggggctcca gggactccca ggtagagcgg agctttggtt
      121 cccacctcgt cccgcgtgcg acttcttcgg ggacggcagg agcacggaca tccaggagga
      181 ggccctcgcc gccagcccgc tgctggagga cctcagacga cggctgacgc gcgccttcca
      241 gtgggcggtg cagcgcgcga tctcgaggcg cgtgcaggag gcggcggcgg cggcggcggc
      301 gcgggaggag cagagctgga cgggcgttga ggccaccctg gccaggctgc gggcggagct
      361 ggtggaaatg catttccaaa accaccagct ggctagaact ttactggacc taaacatgaa
      421 agtgcagcaa ttgaaaaagg agtatgaact ggaaattaca tcagactccc aaagcccaaa
      481 agatgatgct gcgaatccgg aataaagaaa tgcacacgca agggctgggc gcggtggctc
      541 acgcctgtaa tcccagcact ttgggaggcc gaggcgggcg gatcaagacg tcaggagatt
      601 gagaccatcc tggctaacac tgtgaaaccc tgcctctact aaaaatacaa aaaattagcc
      661 agacgtggtg gcaggcacct gtagtccctg ctactcagga gtctgaggca ggagaatggc
      721 gtgaacccag gagacagagc ttgcagtgag ccgaaatcct gccactgcac tccagcctgg
      781 gtgacagagc aagactccat ctcaaaaaaa aaaaaaaaaa aaaaagcaca cgcgaagctc
      841 tggatcctaa aactaacgca tacaaccctg aaacaattct gatgaacaca ttatgctttg
      901 cataagtttt gaggggcaat ttatagaccc aaaacaaatg acaggggaag gtgacagaaa
      961 aacatctaag agaggggaga gaaaaatgat gtattaccaa gttttaaagt tatttatttg
     1021 ttatttttac tgggacatag aagtaaaata taactataga taaatctctc tctgtctctc
     1081 tcactcaaag aatgctttaa tgccaacttt cggtattcaa ccttgtgtca cctgaccttt
     1141 ctggcattgc ctgagctttc agagtttgtg cttgttttgt tttacttgat tattctcagt
     1201 ttgtctgtcc agcagcctgc cctgcttctt gtggagaatt gtttctactt ggattctaac
     1261 catgcccttt aggtggtctg tgactaaggg tattccatct tcctggatat agtcatgcag
     1321 ctcaaggcag gcagatgggt ttgtccttag gatttttgaa tgggcactaa aagagtagat
     1381 gactatttct gccagtagaa gctgtggatc aggggcttgg aagctgctgg tggtcaccat
     1441 gtgagaaagc ccacacccta atggaggtga ctgaaacgga accactaaaa gcacaaaagg
     1501 ggagggaggg agggagggtg cttcgcttcc ttgttcctgg ggtcaagctg tataagactc
     1561 caggccttgc tcttgtttat gtacatgaaa tattctgata tccttctcat aaaatctctt
     1621 tttgcctaag taaattcaag ctggagtttc atgacttgta tctagtgttc ataactaata
     1681 cagttgttca gttttaggag ttaaaatggt tcttactgtt gaattggact atctaactgt
     1741 acccgaaaag tgctgtcttt ttaatgcaaa cagtaaagtt aataaaaaat agttgcagat
     1801 ctaagtgata tttataatgg ttattgtctg caaaatacaa attaatttat aacaagctat
     1861 gtaattttaa tatttaataa actataaaaa tcagttcttg aagacaaagg agaacagaag
     1921 agacacagtc tttctcttgt taaaagaaat acaaggacaa gcatggtgga tcacgcttgt
     1981 aattccagca ctttgggagg ctgaggtggg cagattgttt gagctcagga gtttgagacc
     2041 agcctggtca acatggcaaa accccatctc tactaaaaat acaaaaatta gccaggcgtg
     2101 gtggtgctcg cctatagtac cagctactca ggaggctgag gcataagaat cacttgaacc
     2161 tgggagatgg aggttgcagt gagccgagat catgcccctg cactccagcc tgggtgacag
     2221 agggggactt ggcctcgaaa aaataaataa ataataaaaa taaaataaat gcaagttgtt
     2281 ttatgtgtgt g
//
LOCUS       NM_001025389            4189 bp    mRNA    linear   PRI 03-APR-2023
DEFINITION  Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript
            variant 2, mRNA.
ACCESSION   NM_001025389
VERSION     NM_001025389.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4189)
  AUTHORS   Osanami A, Sato T, Toda Y, Shimizu M, Kuno A, Kouzu H, Yano T,
            Ohwada W, Ogawa T, Miura T and Tanno M.
  TITLE     Adenosine monophosphate deaminase in the endoplasmic
            reticulum-mitochondria interface promotes mitochondrial Ca2+
            overload in type 2 diabetes rat hearts
  JOURNAL   J Diabetes Investig 14 (4), 560-569 (2023)
   PUBMED   36815317
  REMARK    GeneRIF: Adenosine monophosphate deaminase in the endoplasmic
            reticulum-mitochondria interface promotes mitochondrial Ca[2+]
            overload in type 2 diabetes rat hearts.
REFERENCE   2  (bases 1 to 4189)
  AUTHORS   Hsu CM, Chang SF, Tsai YT, Tsai MS, Chang GH, Chen HC, Huang PC, Ko
            CA, Wu CY, Lin SF and Yang MY.
  TITLE     Down-regulation of AMPD3 Is Associated With Poor Survival in Head
            and Neck Squamous Cell Carcinoma
  JOURNAL   In Vivo 36 (2), 704-712 (2022)
   PUBMED   35241525
  REMARK    GeneRIF: Down-regulation of AMPD3 Is Associated With Poor Survival
            in Head and Neck Squamous Cell Carcinoma.
REFERENCE   3  (bases 1 to 4189)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human genetic
            disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   4  (bases 1 to 4189)
  AUTHORS   Mahnke-Zizelman DK, Eddy R, Shows TB and Sabina RL.
  TITLE     Characterization of the human AMPD3 gene reveals that 5' exon useage
            is subject to transcriptional control by three tandem promoters and
            alternative splicing
  JOURNAL   Biochim Biophys Acta 1306 (1), 75-92 (1996)
   PUBMED   8611627
REFERENCE   5  (bases 1 to 4189)
  AUTHORS   Yamada Y, Goto H and Ogasawara N.
  TITLE     A point mutation responsible for human erythrocyte AMP deaminase
            deficiency
  JOURNAL   Hum Mol Genet 3 (2), 331-334 (1994)
   PUBMED   8004104
REFERENCE   6  (bases 1 to 4189)
  AUTHORS   Zydowo MM.
  TITLE     Regulatory effects of the lipid-cytosolic enzyme interaction: AMP
            deaminase
  JOURNAL   Acta Biochim Pol 40 (4), 429-432 (1993)
   PUBMED   8140814
  REMARK    Review article
REFERENCE   7  (bases 1 to 4189)
  AUTHORS   Yamada Y, Goto H and Ogasawara N.
  TITLE     Cloning and nucleotide sequence of the cDNA encoding human
            erythrocyte-specific AMP deaminase
  JOURNAL   Biochim Biophys Acta 1171 (1), 125-128 (1992)
   PUBMED   1420359
REFERENCE   8  (bases 1 to 4189)
  AUTHORS   Bausch-Jurken MT, Mahnke-Zizelman DK, Morisaki T and Sabina RL.
  TITLE     Molecular cloning of AMP deaminase isoform L. Sequence and bacterial
            expression of human AMPD2 cDNA
  JOURNAL   J Biol Chem 267 (31), 22407-22413 (1992)
   PUBMED   1429593
REFERENCE   9  (bases 1 to 4189)
  AUTHORS   Mahnke-Zizelman DK and Sabina RL.
  TITLE     Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third
            AMPD gene exhibiting alternatively spliced 5'-exons
  JOURNAL   J Biol Chem 267 (29), 20866-20877 (1992)
   PUBMED   1400401
REFERENCE   10  (bases 1 to 4189)
  AUTHORS   Ashby,B. and Holmsen,H.
  TITLE     Platelet AMP deaminase. Purification and kinetic studies
  JOURNAL   J Biol Chem 256 (20), 10519-10523 (1981)
   PUBMED   7287721
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: D12775.1, SRR1803615.53725.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396553.7/ ENSP00000379801.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021914.7 and D12775.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001025389.1.
            Summary: This gene encodes a member of the AMP deaminase gene
            family. The encoded protein is a highly regulated enzyme that
            catalyzes the hydrolytic deamination of adenosine monophosphate to
            inosine monophosphate, a branch point in the adenylate catabolic
            pathway. This gene encodes the erythrocyte (E) isoforms, whereas
            other family members encode isoforms that predominate in muscle (M)
            and liver (L) cells. Mutations in this gene lead to the clinically
            asymptomatic, autosomal recessive condition erythrocyte AMP
            deaminase deficiency. Alternatively spliced transcript variants
            encoding different isoforms of this gene have been described.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) contains an alternate exon for
            its 5' UTR, lacks a portion of the 5' coding region, and initiates
            translation at a downstream start codon, compared to variant 1. It
            encodes isoform 1B, which has a shorter N-terminus, compared to
            isoform 1A.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4189
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..4189
                     /gene="AMPD3"
                     /note="adenosine monophosphate deaminase 3"
                     /db_xref="GeneID:272"
                     /db_xref="HGNC:HGNC:470"
                     /db_xref="MIM:102772"
     misc_feature    74..76
                     /gene="AMPD3"
                     /note="upstream in-frame stop codon"
     CDS             191..2494
                     /gene="AMPD3"
                     /EC_number="3.5.4.6"
                     /note="isoform 1B is encoded by transcript variant 2;
                     adenosine monophosphate deaminase (isoform E); AMP
                     deaminase 3; erythrocyte-specific AMP deaminase;
                     erythrocyte type AMP deaminase; AMP aminohydrolase;
                     myoadenylate deaminase; erythrocyte AMP deaminase"
                     /codon_start=1
                     /product="AMP deaminase 3 isoform 1B"
                     /protein_id="NP_001020560.1"
                     /db_xref="CCDS:CCDS41617.1"
                     /db_xref="GeneID:272"
                     /db_xref="HGNC:HGNC:470"
                     /db_xref="MIM:102772"
                     /translation="MPRQFPKLNISEVDEQVRLLAEKVFAKVLREEDSKDALSLFTVPE
                     DCPIGQKEAKERELQKELAEQKSVETAKRKKSFKMIRSQSLSLQMPPQQDWKGPPAASP
                     AMSPTTPVVTGATSLPTPAPYAMPEFQRVTISGDYCAGITLEDYEQAAKSLAKALMIRE
                     KYARLAYHRFPRITSQYLGHPRADTAPPEEGLPDFHPPPLPQEDPYCLDDAPPNLDYLV
                     HMQGGILFVYDNKKMLEHQEPHSLPYPDLETYTVDMSHILALITDGPTKTYCHRRLNFL
                     ESKFSLHEMLNEMSEFKELKSNPHRDFYNVRKVDTHIHAAACMNQKHLLRFIKHTYQTE
                     PDRTVAEKRGRKITLRQVFDGLHMDPYDLTVDSLDVHAGRQTFHRFDKFNSKYNPVGAS
                     ELRDLYLKTENYLGGEYFARMVKEVARELEESKYQYSEPRLSIYGRSPEEWPNLAYWFI
                     QHKVYSPNMRWIIQVPRIYDIFRSKKLLPNFGKMLENIFLPLFKATINPQDHRELHLFL
                     KYVTGFDSVDDESKHSDHMFSDKSPNPDVWTSEQNPPYSYYLYYMYANIMVLNNLRRER
                     GLSTFLFRPHCGEAGSITHLVSAFLTADNISHGLLLKKSPVLQYLYYLAQIPIAMSPLS
                     NNSLFLEYSKNPLREFLHKGLHVSLSTDDPMQFHYTKEALMEEYAIAAQVWKLSTCDLC
                     EIARNSVLQSGLSHQEKQKFLGQNYYKEGPEGNDIRKTNVAQIRMAFRYETLCNELSFL
                     SDAMKSEEITALTN"
     misc_feature    443..445
                     /gene="AMPD3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q01432.1); phosphorylation site"
     misc_feature    455..523
                     /gene="AMPD3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01432.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    509..511
                     /gene="AMPD3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q01432.1); phosphorylation site"
     misc_feature    731..805
                     /gene="AMPD3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01432.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3713..3718
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMPD3"
                     /note="hexamer: AATAAA"
     polyA_site      3736
                     /gene="AMPD3"
                     /note="major polyA site"
     regulatory      4168..4173
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMPD3"
                     /note="hexamer: AATAAA"
     polyA_site      4189
                     /gene="AMPD3"
ORIGIN
        1 actctcctaa agggcagatg aagatcagag ctttgcaccc tgtgatgcca ttttaatcaa
       61 ccctgcttgg ttttagagga ttgctcctgt gggtcacttg aggcaggctc caccttcccc
      121 aggaggagtg gcagagtcca gccagcgctc ggagctggag gcccacgtgg gagcagtgag
      181 cggctctgag atgccgcggc agtttcccaa gctgaacatc tctgaagtgg atgagcaagt
      241 ccggctcctg gcggagaagg tgtttgctaa agtgctccga gaagaggaca gcaaagatgc
      301 cctgtccctg ttcactgtcc cagaggactg ccccatcggg caaaaggaag ccaaggagag
      361 ggagctgcag aaggagctgg cagagcagaa gtctgtggag accgcaaaaa gaaagaaaag
      421 tttcaagatg attcggtccc agtccctgtc tctgcaaatg ccgccacagc aagattggaa
      481 gggccccccg gcagccagtc cggccatgtc tcccacaacc cctgtggtca ctggagccac
      541 ttccctgccc acgccagcac cctatgccat gcctgagttc cagcgggtca ccatcagcgg
      601 agattactgt gccgggatca ctttggagga ctatgagcag gcagccaaga gtctggccaa
      661 ggccctaatg atccgggaga agtatgcgcg gctcgcctac caccgcttcc cgcggatcac
      721 atcccagtac ctgggtcatc cgcgggcgga tactgcacct ccggaagagg gccttccaga
      781 cttccaccct cctccactgc cccaggaaga cccctactgc ctggatgatg caccccccaa
      841 cctggattac ttggtccaca tgcagggggg catcctcttt gtgtatgata acaagaagat
      901 gctggagcac caggagccgc acagcctacc ctaccccgac ctggagacct acacggtgga
      961 catgagccac atcctggctc tcatcaccga tggccccacg aaaacctatt gtcaccggcg
     1021 actgaacttt ctggaatcca agttcagcct tcatgagatg ttaaacgaaa tgtccgagtt
     1081 caaagagttg aagagtaacc cccaccggga cttctataac gtgagaaagg tggacacaca
     1141 catccatgcg gccgcctgca tgaaccaaaa gcatctgctg cgcttcatca agcacacata
     1201 ccagacggag cctgacagga ctgtggcaga gaagcggggc cggaagatca ccctgcggca
     1261 ggtgtttgac ggcctgcaca tggaccccta cgacctcact gtggactcac tggatgtcca
     1321 cgcgggccgg cagacattcc accgctttga caagttcaac tccaaataca accctgtggg
     1381 ggccagtgag ctgcgtgacc tgtatttgaa aactgaaaac tatctgggag gagagtactt
     1441 tgctcggatg gtcaaggagg ttgcccggga gctggaggag agcaagtacc agtactcaga
     1501 gccacggctc tccatctacg gccgcagtcc tgaggagtgg cccaacctgg cctactggtt
     1561 catccagcac aaggtctact ctcccaacat gcgctggatc atccaggtgc cccggattta
     1621 tgacatattt aggtcaaaga agctgctgcc aaactttggg aagatgctgg agaacatctt
     1681 cctgcccctt ttcaaggcca ctatcaaccc ccaagatcat cgagagcttc acctcttcct
     1741 taaatatgtg acggggtttg acagcgtgga tgatgagtcc aagcacagcg accacatgtt
     1801 ttccgacaag agcccaaacc cggacgtctg gaccagtgag cagaacccac cctacagcta
     1861 ctacctgtac tacatgtatg ccaacatcat ggtgctcaac aacctccgca gggagcgcgg
     1921 cctgagcacg ttcctgttcc ggccgcactg tggggaagcc ggctccatca cccacctggt
     1981 gtctgccttc ctcactgctg acaacatttc ccacgggctg ctcctcaaga agagtccggt
     2041 attgcagtat ctctactacc ttgctcagat ccccattgcc atgtctcctc ttagcaacaa
     2101 cagtttgttc ctcgaatatt ccaagaaccc tctgagggaa ttcctacaca agggactgca
     2161 tgtttctctt tccaccgatg accccatgca gttccactac acgaaggaag cacttatgga
     2221 agaatatgcc attgcagctc aagtgtggaa gctgagcacc tgcgacctgt gtgagatcgc
     2281 caggaacagc gtgctgcaga gcggcctctc gcatcaggaa aagcaaaagt ttctgggaca
     2341 aaattattat aaagaaggac ctgaaggaaa tgatattcga aagacaaatg tggctcagat
     2401 ccggatggca ttccgatatg agaccttatg caatgagctc agcttcctgt ctgatgctat
     2461 gaaatcagaa gagatcaccg ccttgaccaa ctaggtccag catttgacat gcattttaac
     2521 tttttggttc aatttcaagt ctgctgtggc taatagtggt caagattccg aactaggact
     2581 ttcctctgtg aagaggatgc ctctgaagaa attttaaact ggtgattttg gttgcactgc
     2641 tcactttaag agttaacatg ctcacttgtt agtatttctg agtaacaaga tggtgacttc
     2701 tccttgggga tctgggagct gagcacttgt ctatacttgt tcctaatttt ccaagtattt
     2761 ctcttgaaac tgccagtgcc tgaactgttg gggccaggat tttccctggt cagatgccaa
     2821 gtaacatgtg gttttctgcc atacttttct ccattggccc aggtaggcta attggtagtt
     2881 gttcatttca gcctctggat ggctggctgc cttaaacaca atcaatttca aagctccatt
     2941 tcataaaggg gctactttga aggagttaag atggaagact tccttcttga caaattgtgt
     3001 ttttagtgaa tttcttaaac cgttttattt agccctcctt ccctctttct agttggaagc
     3061 caaatgtact catgaaaaca gccactccta ttctgagtct tggtttcttc acctagaaag
     3121 tgagggtttg gactagatga gtggctttca gggtgttctg tgaatctcct catgaatact
     3181 ttagggtagg ggagggaagg gagtgagtga tgctcagggg ctgtcaaagt gactgcgttc
     3241 atcagtttta cactggggct gctacataat attttcattt gaacgaagaa cttcaaaaag
     3301 cacaggacta gatgatctct gttccttttg gctctaatat gctacaactg taggccaatt
     3361 atcactttac caattaagag ttaggccaga taagtgaaat ttaacttaag ggcacacagc
     3421 taataagtaa taggcctaaa ctggatttcc ttattccaaa tcctgtcttt tccccactat
     3481 tccattagac cccacaaatg ttagttgtgt gtgtgtgtgt gtgtgttttt aatcactgta
     3541 accggatgca tttttttaag gcaaaatttc tcccttatct actatgatga cttcagaaga
     3601 tacaatggtc ccaggggcca agtagaaagc atttttaaag attaatctga attaagcttt
     3661 atcagtgtac tctttatctg tgttactagt gcctggtatg tagtaggtgc tcaataaatg
     3721 catattgaat aactaagtga atttcttttg gcaacttttt aaggacatgt gctcttagta
     3781 cttaagaggc tgctcaagga ccttcctatc tatttctgtg gtcaaattca gactacagga
     3841 ggtctttttg aatcattata gttagaagaa gaatccagtt tctgcctgtg aacttatttg
     3901 actttagatt gtctcatctt gtgactttat aatgcctgtc ccctccactg gtcaattcag
     3961 catatggaag tataaatgca gtctttttac taggcagata tatatgctat cttacagcta
     4021 attatgaaat tgaatgaaaa tccattgtta tcttagggat tagttttgaa aagcccccgt
     4081 ttatatacat ttgccctaac ataggaagta ttgtgtagtt tctcattgtc attttatctg
     4141 tatcaagtat ctttttttaa attgttaaat aaagtcagct aggactgtg
//
LOCUS       NM_001025591            6763 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens secretoglobin family 2B member 2 (SCGB2B2), transcript
            variant 1, mRNA.
ACCESSION   NM_001025591
VERSION     NM_001025591.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6763)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 6763)
  AUTHORS   Jackson BC, Thompson DC, Wright MW, McAndrews M, Bernard A, Nebert
            DW and Vasiliou V.
  TITLE     Update of the human secretoglobin (SCGB) gene superfamily and an
            example of 'evolutionary bloom' of androgen-binding protein genes
            within the mouse Scgb gene superfamily
  JOURNAL   Hum Genomics 5 (6), 691-702 (2011)
   PUBMED   22155607
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            CDS exon combination :: AK093495.1, SRR14372079.313075.1
            [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: downstream AUG is associated
            with N-terminal localization signal
            MANE Ensembl match :: ENST00000601241.6/ ENSP00000469876.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC020910.7, AK093495.1 and AC022143.7.
            On Oct 29, 2020 this sequence version replaced NM_001025591.3.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6763
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..6763
                     /gene="SCGB2B2"
                     /gene_synonym="SCGB4A2; SCGBL"
                     /note="secretoglobin family 2B member 2"
                     /db_xref="GeneID:284402"
                     /db_xref="HGNC:HGNC:27616"
                     /db_xref="MIM:615063"
     misc_feature    3412..3414
                     /gene="SCGB2B2"
                     /gene_synonym="SCGB4A2; SCGBL"
                     /note="upstream in-frame stop codon"
     misc_feature    3481..3483
                     /gene="SCGB2B2"
                     /gene_synonym="SCGB4A2; SCGBL"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MCLVQIYIKLTHRQIPCLCLLGPDSAV"
     CDS             3562..3852
                     /gene="SCGB2B2"
                     /gene_synonym="SCGB4A2; SCGBL"
                     /note="secretoglobin-like protein"
                     /codon_start=1
                     /product="secretoglobin family 2B member 2 precursor"
                     /protein_id="NP_001020762.1"
                     /db_xref="CCDS:CCDS32989.1"
                     /db_xref="GeneID:284402"
                     /db_xref="HGNC:HGNC:27616"
                     /db_xref="MIM:615063"
                     /translation="MRVTSATCALLLALICSVQLGDACLDIDKLLANVVFDVSQDLLKE
                     ELARYNPSPLTEESFLNVQQCFANVSVTERFAHSVVIKKILQSNDCIEAAF"
     sig_peptide     3562..3630
                     /gene="SCGB2B2"
                     /gene_synonym="SCGB4A2; SCGBL"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      6666..6671
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCGB2B2"
                     /gene_synonym="SCGB4A2; SCGBL"
                     /note="hexamer: ACTAAA"
     polyA_site      6696
                     /gene="SCGB2B2"
                     /gene_synonym="SCGB4A2; SCGBL"
                     /note="major polyA site"
     regulatory      6733..6738
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCGB2B2"
                     /gene_synonym="SCGB4A2; SCGBL"
                     /note="hexamer: ATTATA"
     polyA_site      6763
                     /gene="SCGB2B2"
                     /gene_synonym="SCGB4A2; SCGBL"
                     /note="major polyA site"
ORIGIN
        1 gcactcattt gcccaagacg ataactcaca aaacgccctg tggcccgact gtcacgactg
       61 tagttcgcca accaagggca tttcctggaa atgcaagggg acacgtatct gtgacactaa
      121 tggccgttct gacgtgcgtt acgcccctgg aaggacttgg aaatactgaa cttgagtgag
      181 cactgggagg atggagaccc tcatcctggg aggagtcact cctcccgcag ccatcacagc
      241 ctgacgcccc ctctccccag aagtgcttct taggcccacc caaaagggca atggacctct
      301 ctgtatgcaa gccagagcag tctactgttt gtgtatattt gggttgttta ctttcttttt
      361 aacacttaaa tgttaattga cttcaatcat ttttaaaatt ataaatagtg tcgctataga
      421 cttttttgta cttattaagt actgacctgc atgatcttcg tgaagcagtg cttctgttac
      481 cagaaagggg tccggatccg accccaagag agagttctta gagctcacgc aagaaaaaat
      541 ccatgggaga gcacagtgca aagccaaagc aagtgtatta agaaagtaaa gaaacaatgg
      601 gtactccatt gttagagcag cagcttgggc tgctggacta gggatacttg tatttattgc
      661 ttgatgatgt gctaaacaag ggtggattat tcatgagttt tccaggaaag aggtgggcaa
      721 tttcaatttc tcggagctga gggcttccca gctttttgaa ccatacaggg taacttctga
      781 accttaccat ggcatttgta aattgccatg gcactgatga gcgtttctct tagcgtgcta
      841 atgcatataa ttagcatata accgagaggt gaagccagct gggcttctgg atcaggtggg
      901 gccttggaga acttttctgt atagctgaag gattgtaaat acaccaatca gtgctctgtg
      961 tctagctaaa ggtttgtaaa tgcaccagtc agcactctgt aaaaacggac caaacagcac
     1021 tctgtaaaat agaccaatca gcgctctgta aaatggacaa atcagcagga tgtgggcggg
     1081 gccaaataag ggaataaaaa cgggccaccc gaacaaccag cggcaaccgc gctggggtct
     1141 acttcccagg tgtgggatgt ttgttctttt gctctttggg tctgcactac ctttatgagc
     1201 tgcaacactc accctgaagg tctgcagctt cactcttgaa gccagcgaga ccacaaaccc
     1261 actgggagga acgaacaact ccagacacgc cgtctttagg agctgtaaca ctcactgtga
     1321 aggtctgcag cttcactcct gaagccagcg aaatcatgaa cccaccggga ggaacaaaca
     1381 actccagcac gactccagac gcaccgcctt tatgagctgt aacacacacc gcgagggtct
     1441 gcagcttcac tcctgaagcc agccagacca ggaacccacc agaaggaacc aattccggac
     1501 acataacaag cagcagtgag gacaccaaag acacagaccc agatgcagag gcagaggcag
     1561 ccacacagcc cctcccagcc acaatcacaa cctcatattc atataatcac agaccctcca
     1621 ccccacatag tgggtggaat cctgccagcg cattccactc acacacacac aaaatcccat
     1681 tctcacacac gtgcacccaa gcctcgtccc gcacacacaa catgacaggc cacagagccg
     1741 gctgagagtc tcagcacgca tggacgcctg cactgcgcag gttgcagccc aggctgcagg
     1801 accacaggtg gcagggacga cacagcaggt ggccggccag ggagtggcag tggcctccat
     1861 cctccctgct cagccacagc ccctgcttca gcgtctgcca gtccaactgt caactcatcc
     1921 actcaacttt acaactggaa tgtgggggcg ttcagggccc tgccactggt gacggccact
     1981 ctaagtccta cccaatgctg ggtaggtcct ttaagaggcc caagtcctgg gcgctactat
     2041 gaggttctgt acgtgcacag tgatggctca tgcctggccg aggtgagccc actcagtctg
     2101 ggtggcacag cctaatctag gaactgctct gcggttctac atggctctca gcagcccagt
     2161 gagtgtcctc tgcaccgggc gtgtccctca ggtgctccta gccagaccct cccttgacac
     2221 agtagggcac aaaccgctat tggagcggca ctggcacccg agtgtacaag cgtcagcatc
     2281 cctgctgcct tccccacccc cagctgtccc cacctgctga ttctgcccct ggggtcacac
     2341 ttacaattta gggtcctgtc aggagacaaa aatcacgtga gtgacatcag ctccctcata
     2401 tgtaggtgct gggaaaaggg cttgtggggt gcctgtataa actggccata aaaatacggg
     2461 aataagttgt ggaaagccac aaaaggcctc tgaggaggaa agcctcctaa ttgccatcat
     2521 gttcccatgc tcagagcaag acccgctgtc ttctctgtaa acactgtgct cagggagaaa
     2581 gacacttctt tgaaacactg gaatgtggac agacgtgcag gctcccagtc aaggccgctc
     2641 ctactagcta ctctccaaca agttaaagtt atgctgtttg agcacaaagg agactcattt
     2701 aaactgctat tgctatagat tatgcctgtg atgcactgcc accctttcac tgtttctccc
     2761 tgaacatctg cttcttagat cgaagggact gtactcaata aatagtgtgg agaccagagc
     2821 tcggcacctt ttgcagcctc cacattttgc actggccccc tggctcccca cctttcactc
     2881 ttaacttgtc ttttctcaat cctttgtcac caccagactt cgggtaccct acgggtagtg
     2941 ttgaggctgg tccccaacat gtaggatccc ttcactgtgt cacatgtgtc cctaacacac
     3001 ttgctacatc tcatgtcctt taggttctgt gttttactcc agataatgtt ctttgaatct
     3061 aaattacagt ttactgattt ctcaaaagct gcacctaatg tgctatccat tcagacagac
     3121 atactcactt agcaaatgtt tgttgagcca gcactcagtg gcagattctg tgctagggcg
     3181 tgccaagtgc agacacacgt ttgccaagac acagggtcac atgtgcatgc acactcagac
     3241 ttgcaggctt acaccagtgt tcagcctgct cccaatccca gggagctcca gggaggacag
     3301 agagaatgtc acaacaccca acccctccca ctgcatgctg agtccagttc ccgatacgct
     3361 gccaccccaa cagcatggcc cagggccgag ggtctctctg cagacctgcc ctgaccacat
     3421 tcacacacac acacacacac acacacacac acacacacac acacacacac acgaagaggc
     3481 atgtgccttg ttcagatata cataaagctc acccatcgcc aaattccctg cctgtgcctg
     3541 ctgggaccag actccgctgt catgagggtg acatccgcca cctgtgctct tctgctggct
     3601 ctgatctgca gcgtccagct gggggatgcc tgcctggata tcgataaact gcttgcgaat
     3661 gttgtgtttg atgtgtccca agacctcctg aaggaggagc ttgctcgtta caaccccagt
     3721 cccctgacag aggagtcctt cctcaatgtc cagcaatgct ttgccaatgt ctccgtgaca
     3781 gaaagatttg ctcattcagt tgttattaag aagatccttc agagcaacga ttgcatagaa
     3841 gcagccttct gatctgagga cccctgcaga tcagatattg gccctcctgc cttccttggg
     3901 gctccccgcg ttcctggcct ggctctgttc atcactacag agaccccaat gaacacctgc
     3961 agctcagttc tgtgttctgg catctgtgtg gggttggctg tgaccgcata tgcagagtgt
     4021 gaccagggtc ccagtgtgaa aatatgcgac tgaggaaaaa ctctacaggt gtagcataga
     4081 catgcctgtt ttctttttgg cggggaggag ggtggctgga gtgcattggc gcgatcttgg
     4141 ctcactgcag cctccacctt ctgggttcaa gcgattctcc tgcctctgcc tcctgagtag
     4201 cagaatacag ccacacacca ccacgcttgg ctaatttttg tatttttagt ggagacaggg
     4261 ttttgccatg ttggccaggc tggtctcaaa ctcctgaccg caaatgatcc acctacctca
     4321 acctccaacg tgctagggtt agaggcatga gccactgtgt ccagtcgata tgcctgtttt
     4381 cggaacccag gaaatcaacc ttaacacact tctccatccc tacctaccca agctgtcctt
     4441 ttttctcccc ctacctctac cccacaaccc ctcaatgcag aacctccagg gctccccagg
     4501 actcgggatg ctggaggctg ggaaatcaca ccctcctggc taagtcacaa gcctcagcgt
     4561 ccccataaat acctgcagct cagctctgct cctggggctg gtgggaccag gcaatctgca
     4621 tgaggccatg ggtctgtgtg gccatgtcac catgacaggg gacattgaca ttgaggtcac
     4681 agggaacgag tgccaccctc aaacacggcc cctctctccc acctcacccc tcagttgatt
     4741 tcatcctcga tggaggtctc agtggccttc aatacactga tgaggctcca tcaactcctt
     4801 ctgggggagg tccctcccca aacctcaagc cctttccgca ggctccttgg acctcccagg
     4861 cggtggtcgc ctacccctat cagctcacac cgccctagac tcctccctct ccctcccacc
     4921 caggtgtctc tcagatgaca ccctccaaac cctgtccctc cctcctgctc aggtcagcga
     4981 gacctccatc cctctgagtc tccctgcctc cagcctcact ccccttccat gggaatacca
     5041 gcctggatct tctttctccc tggatctttg agagctcatt tccctacaag tgcagaccca
     5101 ccttcagcag ggcacacacg gctggccagg acaaggctcc actgctgacc accctatctt
     5161 tgcactccca gatttccttt caacattctt ctcctccctc actcccactg cccaaaatgc
     5221 cctttctccc ttccacccat tctccttgtc atccctcagc cgtcatctcc tccaggtcac
     5281 acgtttcagt cccccatctc aggacacatc atctcccctc tgtccccaga attggcctca
     5341 tttaatgcac tttccatccc agtcatcacc catccactca gccagggaag aagtgtcccc
     5401 tgccacacat caggcccttt cccagagccg ggcacccagt ggaaaacaag gcaggtgacg
     5461 gccctgcttc cctgaagttc acatccaagg tgaagagggg gttgcaaagc tcaagaaaat
     5521 tgtaatagtg atgagaacca caaggaccac ccaacaggga aatgtgatca ggcgggactg
     5581 gcttgaggtg ccacattggt caggtggtcc cagaaggcat ctgaggagac aacatctccc
     5641 ctgagtcctg aagaacctga ggcagccacc aggtgaaggt ctggggcagg gaatgcggca
     5701 tgatgagaaa ggatttgttg tgttggagaa atggccagtg cagctggaac aaggggcagc
     5761 agggaaggag gtcacgtcag aaaacgaggc aagtgccagg tcacgcagga ccttgcagaa
     5821 aggtggatcc tttccatgtg cagtgaaaaa tcctgggagg ggatgagcag gacttacgag
     5881 gtcacacttt ccctgttgga atagagcaac gggggcggca gtagaggcag gaagaccaac
     5941 tgggagtccc tgtggccgtc caggtagaca ccgtggcctt gtcacagtgc agccctggag
     6001 agacacgagg gagacagagg ctggggcagc actgacagca cctgctgttg aattgaatat
     6061 ggggagagga tgtggagaga aggggaatca aaatgatctc atcacatttg ggctggagca
     6121 gctggctgga tgtgatgcca ctgctgagaa ggtgaagcct ggggaggagc aggtttaggg
     6181 caaagatcca gagtcccatg ctggcctgga taagtttccc acatccaaga catccattag
     6241 ctatccagga ggacgggaca cagggggtgt gagacgctct agtttggagc tcatggaata
     6301 gttgggcctg gagacaaaaa catgtaaatt tcagcatttc aatggaattt aaatctgtgg
     6361 agctaaagaa aataatgcag atcatgctac ttattcagtc tcaattaaaa ctcagcttgt
     6421 agcaatcaaa gatggagagt ttcaaccaga agtaaatgaa aagaattaga aatgccctga
     6481 gaaatttgga caaacatgtt attgatataa atactttgag atgcaaaagc atttcacatg
     6541 tgtttgaaag aataaggaaa atgttagaaa ataattgtca ctgaagatga gtctacccat
     6601 gatctgtcag ttgtcctgaa attgagtaat ttcttaaaat gacaatgtcc tgtgagttta
     6661 ctttaactaa aatgcttacg actctgttat tcttaatgat atgtgatgat ctctgtattg
     6721 ttggtataag gaattatatt ccctacttgt atgtttcata gaa
//
LOCUS       NM_001025595            3542 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens ADP ribosylation factor interacting protein 1 (ARFIP1),
            transcript variant 1, mRNA.
ACCESSION   NM_001025595
VERSION     NM_001025595.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3542)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3542)
  AUTHORS   Huang LH, Lee WC, You ST, Cheng CC and Yu CJ.
  TITLE     Arfaptin-1 negatively regulates Arl1-mediated retrograde transport
  JOURNAL   PLoS One 10 (3), e0118743 (2015)
   PUBMED   25789876
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3542)
  AUTHORS   Guo Z, Neilson LJ, Zhong H, Murray PS, Zanivan S and Zaidel-Bar R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3542)
  AUTHORS   Cruz-Garcia D, Ortega-Bellido M, Scarpa M, Villeneuve J, Jovic M,
            Porzner M, Balla T, Seufferlein T and Malhotra V.
  TITLE     Recruitment of arfaptins to the trans-Golgi network by PI(4)P and
            their involvement in cargo export
  JOURNAL   EMBO J 32 (12), 1717-1729 (2013)
   PUBMED   23695357
  REMARK    GeneRIF: The binding of arfaptin1, but not arfaptin2, to PI(4)P is
            regulated by protein kinase D (PKD) mediated phosphorylation at
            Ser100 within the AH.
REFERENCE   5  (bases 1 to 3542)
  AUTHORS   Gehart H, Goginashvili A, Beck R, Morvan J, Erbs E, Formentini I, De
            Matteis MA, Schwab Y, Wieland FT and Ricci R.
  TITLE     The BAR domain protein Arfaptin-1 controls secretory granule
            biogenesis at the trans-Golgi network
  JOURNAL   Dev Cell 23 (4), 756-768 (2012)
   PUBMED   22981988
REFERENCE   6  (bases 1 to 3542)
  AUTHORS   Ho WT, Exton JH and Williger BT.
  TITLE     Arfaptin 1 inhibits ADP-ribosylation factor-dependent matrix
            metalloproteinase-9 secretion induced by phorbol ester in HT 1080
            fibrosarcoma cells
  JOURNAL   FEBS Lett 537 (1-3), 91-95 (2003)
   PUBMED   12606037
  REMARK    GeneRIF: inhibits ADP-ribosylation factor-dependent matrix
            metalloproteinase-9 secretion induced by phorbol ester in
            fibrosarcoma cells
REFERENCE   7  (bases 1 to 3542)
  AUTHORS   Suzuki Y, Tsunoda T, Sese J, Taira H, Mizushima-Sugano J, Hata H,
            Ota T, Isogai T, Tanaka T, Nakamura Y, Suyama A, Sakaki Y, Morishita
            S, Okubo K and Sugano S.
  TITLE     Identification and characterization of the potential promoter
            regions of 1031 kinds of human genes
  JOURNAL   Genome Res 11 (5), 677-684 (2001)
   PUBMED   11337467
REFERENCE   8  (bases 1 to 3542)
  AUTHORS   Williger BT, Provost JJ, Ho WT, Milstine J and Exton JH.
  TITLE     Arfaptin 1 forms a complex with ADP-ribosylation factor and inhibits
            phospholipase D
  JOURNAL   FEBS Lett 454 (1-2), 85-89 (1999)
   PUBMED   10413101
REFERENCE   9  (bases 1 to 3542)
  AUTHORS   Tsai SC, Adamik R, Hong JX, Moss J, Vaughan M, Kanoh H and Exton JH.
  TITLE     Effects of arfaptin 1 on guanine nucleotide-dependent activation of
            phospholipase D and cholera toxin by ADP-ribosylation factor
  JOURNAL   J Biol Chem 273 (33), 20697-20701 (1998)
   PUBMED   9694811
REFERENCE   10  (bases 1 to 3542)
  AUTHORS   Kanoh H, Williger BT and Exton JH.
  TITLE     Arfaptin 1, a putative cytosolic target protein of ADP-ribosylation
            factor, is recruited to Golgi membranes
  JOURNAL   J Biol Chem 272 (9), 5421-5429 (1997)
   PUBMED   9038142
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.176730.1,
            SRR1660805.57770.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000353617.7/ ENSP00000296557.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK304141.1, DC346238.1, BC105114.1, BC103759.1, AK299600.1,
            AK096509.1, AI634366.1 and AC099339.6.
            On Nov 22, 2018 this sequence version replaced NM_001025595.2.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1). Variants 1, 4, and 5 encode the same isoform.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3542
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.3"
     gene            1..3542
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /note="ADP ribosylation factor interacting protein 1"
                     /db_xref="GeneID:27236"
                     /db_xref="HGNC:HGNC:21496"
                     /db_xref="MIM:605928"
     CDS             283..1404
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /note="isoform 1 is encoded by transcript variant 1;
                     arfaptin-1"
                     /codon_start=1
                     /product="arfaptin-1 isoform 1"
                     /protein_id="NP_001020766.1"
                     /db_xref="CCDS:CCDS34080.1"
                     /db_xref="GeneID:27236"
                     /db_xref="HGNC:HGNC:21496"
                     /db_xref="MIM:605928"
                     /translation="MAQESPKNSAAEIPVTSNGEVDDSREHSFNRDLKHSLPSGLGLSE
                     TQITSHGFDNTKEGVIEAGAFQGSPAPPLPSVMSPSRVAASRLAQQGSDLIVPAGGQRT
                     QTKSGPVILADEIKNPAMEKLELVRKWSLNTYKCTRQIISEKLGRGSRTVDLELEAQID
                     ILRDNKKKYENILKLAQTLSTQLFQMVHTQRQLGDAFADLSLKSLELHEEFGYNADTQK
                     LLAKNGETLLGAINFFIASVNTLVNKTIEDTLMTVKQYESARIEYDAYRTDLEELNLGP
                     RDANTLPKIEQSQHLFQAHKEKYDKMRNDVSVKLKFLEENKVKVLHNQLVLFHNAIAAY
                     FAGNQKQLEQTLKQFHIKLKTPGVDAPSWLEEQ"
     misc_feature    283..423
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /note="propagated from UniProtKB/Swiss-Prot (P53367.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    286..288
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:22814378;
                     propagated from UniProtKB/Swiss-Prot (P53367.2);
                     acetylation site"
     misc_feature    295..297
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P53367.2); phosphorylation site"
     misc_feature    364..366
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P53367.2); phosphorylation site"
     misc_feature    388..390
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P53367.2); phosphorylation site"
     misc_feature    397..399
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P53367.2); phosphorylation site"
     misc_feature    487..489
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P53367.2); phosphorylation site"
     misc_feature    517..519
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P53367.2); phosphorylation site"
     misc_feature    676..678
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:22981988,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P53367.2); phosphorylation site"
     misc_feature    1363..1365
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P53367.2); phosphorylation site"
     regulatory      3074..3079
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /note="hexamer: ATTAAA"
     regulatory      3092..3097
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /note="hexamer: AGTAAA"
     polyA_site      3097
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /note="major polyA site"
     polyA_site      3110
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
     regulatory      3517..3522
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
                     /note="hexamer: AATAAA"
     polyA_site      3542
                     /gene="ARFIP1"
                     /gene_synonym="HSU52521"
ORIGIN
        1 ctcctcactt ccggcttcgc tgctcttggt tctggttctg gaggctgggt tgagaggtcg
       61 ccggtccgac tgtcctcggc ggttggtcag tgtgaatttg tgacagctgc agttgctccc
      121 cgcccccgag cagccgaggt gcgtggggga aggggaagaa ggaaaaggtc cgggtcgcgt
      181 ttccgctcag tttttgccag ggttgaggcg attccagaga gcggcggaaa ggataagcct
      241 cgacttagaa gctaccgagt taccctaaga aaggagtcta ccatggctca agaatctccc
      301 aaaaattcag cagcagaaat tccagtgact agtaatggag aagttgatga ctctcgtgaa
      361 catagcttta atagggattt gaagcattca ttaccatctg gacttggtct ctcagaaacc
      421 caaattacat ctcatggctt tgacaatacc aaagagggtg ttattgaagc aggagcattt
      481 caaggttccc cagcaccgcc actgccatct gttatgtctc ctagcagggt tgcagctagt
      541 cgactggctc agcaaggaag tgatttaatt gttcctgcag gtggccagag aacacagaca
      601 aaaagtggac cagttattct agcagatgaa attaaaaatc ctgcaatgga aaagttagaa
      661 cttgttagaa aatggagtct aaacacctat aagtgtactc gacagattat ctctgagaag
      721 ctaggccgtg gctcaagaac tgtggacctt gaacttgaag ctcagattga tatattaagg
      781 gataacaaga aaaaatatga aaatatttta aaactggctc aaacattgtc gacccagctt
      841 ttccagatgg tacataccca aaggcaactt ggagatgcat ttgctgacct gagtttgaag
      901 tcactagaac ttcatgaaga atttggctat aatgccgata cccagaaact gctggctaaa
      961 aatggagaga ctcttcttgg ggccattaat tttttcattg ctagtgtgaa cactttggtg
     1021 aataaaacca ttgaagatac attaatgact gtgaaacagt atgaaagtgc caggattgaa
     1081 tatgatgcat atcgcactga tttggaagaa ctgaatcttg gaccacgtga cgcaaacact
     1141 ctgccaaaga ttgagcagtc acagcatctc ttccaagcac ataaggaaaa atatgataaa
     1201 atgcgcaatg atgtttctgt caaattgaaa tttctagaag aaaataaggt taaagtattg
     1261 cacaatcagc tggtcctttt ccacaatgcc attgccgctt actttgctgg gaatcagaag
     1321 cagcttgaac agacacttaa acagttccat atcaaattga aaacccctgg agtggatgcc
     1381 ccatcttggc ttgaagaaca gtaaaatcac agcggaaaat aaaaagaaag tcgcgttgtt
     1441 atatttctaa accaacctaa caagaattaa gcagagttgg gggaagtggg aggggtgaca
     1501 agcattatag tgattcttgc acaaacagct ttaatttttc cctttttcat actttaacaa
     1561 ttgaactgtt aagggtggtt ttaatgtaaa catagtttct ataatctgaa cacaataatt
     1621 ttcctttttg agaaatcctt ttgtattgtg agggttgatg gctatttctg tagtttgaaa
     1681 acatctaata gagatttgca ctgacaagat aaaaattcaa ggtttttggt cctggaaatg
     1741 agggccgatt gtaacttttc caaagggagg tttacatgat ttgtatcaac atcagatatt
     1801 ttatatgtga atatattaaa catctttaag agattcattt tcatgtatta aagaaaaaag
     1861 aaactatttt gcagagtaaa gttatatggt gttcctgcag cgtccacaca gaggcagcag
     1921 ctctaatgaa tgattagctt gtggagttgt ggcaaatacc tttttaaaaa tgaatctgta
     1981 ccactgtaat tttatttaga ctttttttta aagacacaga aatcacactg tcatttctgt
     2041 gaggctttta agcttatgaa tttgcttcac ccgaagtcat tggacagtta catttgcaat
     2101 ttcttttggt tcataacaaa acctgcttaa gagaattttt ttttttgaca ggtggacgtg
     2161 ggaatggaaa ttcttaatgg tttctggagt agaaatctgt acttagaaaa ctagtttttg
     2221 ggtcagttcc attttgatag aagtgaatac atagacagct tttattgact tccatatgta
     2281 acaataccgt ttaagcctta aatcacagat atgtgccttc tcagatacag taattcttgt
     2341 tcaaccaatg tacaaaatcc ataaagaaac ccctgttgga taatgtttga tgtgtctatt
     2401 ccttccatgg aatggagcac tatgtatgaa tgttgggttt ctttgtactt gttaagccac
     2461 atttgaggtt tatggtaaaa atcatctttt gagtttgctc tttggttttt cttcattcct
     2521 tttgaggatt gggaaaacag aaagattctt tgatttgggt aatgaagagg taatttggga
     2581 cagtgtggtg gtaccaggaa gaaagaggat tggaaaggcc agtactgttt tagttgctcg
     2641 gcactgttgg ttttgtttta atgtggttgc cctgtccact acatggttct atcagtagtg
     2701 taatccattt tcaatgtaaa gctcttttag tttttgtcat agacataaat taatattttg
     2761 agaggcatcc ctcacctgtt catttcttct gtgttgaaat gaagtactta aaattaccgt
     2821 tatacatgaa ctttgtggac tgtaagattt gttatatatg ttcaaatgcc ttttagctgg
     2881 ctttttaatt aatatgcctg ttttgagtgc ttaatacaat gtaatgtgat tgtaaatcat
     2941 acctatttta aatcattcct tcctgtatat ttgtactcag agagccttat tttattcttc
     3001 cagcagaatt actacttgtg atagttcatt tacattcccc agaatgtgcc tctagtgtga
     3061 attttgtatt cttattaaac gtgtttgctg cagtaaatcg tttctctgga ccttcatagt
     3121 ttaagaagta actatttgga aattctgaag acacataatt tgcgttttct gaaccttaaa
     3181 aaaaaaggta cttctgtcac ttataattgt tttagctcag taagctattt tttttcaatg
     3241 tgaatctctt ttgagagctg aacatgtcca ttcttaacca catttcaata acagttactg
     3301 tagctaagga gctaaatagt ttcatggatt aatttttttc agaataaatt taaaatatcc
     3361 atgattctga tagtgggcac atgaccaaaa gaaaaaagta aatcaatata tttagccaat
     3421 ggtacattta ctttgttagg aatgtaattt atgttcatta tagaaaagaa ttagaagaaa
     3481 atttcaagta atagaagata agtaccttcc caagtgaata aatactgcat ggaaccactc
     3541 aa
//
LOCUS       NM_001025598            4342 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript
            variant 1, mRNA.
ACCESSION   NM_001025598
VERSION     NM_001025598.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4342)
  AUTHORS   Wu A, Lin L, Li X, Xu Q, Xu W, Zhu X, Teng Y, Yang XM and Ai Z.
  TITLE     Overexpression of ARHGAP30 suppresses growth of cervical cancer
            cells by downregulating ribosome biogenesis
  JOURNAL   Cancer Sci 112 (11), 4515-4525 (2021)
   PUBMED   34490691
  REMARK    GeneRIF: Overexpression of ARHGAP30 suppresses growth of cervical
            cancer cells by downregulating ribosome biogenesis.
REFERENCE   2  (bases 1 to 4342)
  AUTHORS   Chen S, Liu Z, Li M, Huang Y, Wang M, Zeng W, Wei W, Zhang C, Gong Y
            and Guo L.
  TITLE     Potential Prognostic Predictors and Molecular Targets for Skin
            Melanoma Screened by Weighted Gene Co-expression Network Analysis
  JOURNAL   Curr Gene Ther 20 (1), 5-14 (2020)
   PUBMED   32416689
  REMARK    GeneRIF: Potential Prognostic Predictors and Molecular Targets for
            Skin Melanoma Screened by Weighted Gene Co-expression Network
            Analysis.
REFERENCE   3  (bases 1 to 4342)
  AUTHORS   Wang J, Qian J, Hu Y, Kong X, Chen H, Shi Q, Jiang L, Wu C, Zou W,
            Chen Y, Xu J and Fang JY.
  TITLE     ArhGAP30 promotes p53 acetylation and function in colorectal cancer
  JOURNAL   Nat Commun 5, 4735 (2014)
   PUBMED   25156493
  REMARK    GeneRIF: ArhGAP30 is required for p53 acetylation and functional
            activation in colorectal cancer.Down-regulation of ArhGAP30 in
            colorectal cancer is associated with poor survival. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 4342)
  AUTHORS   Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee
            JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K,
            Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z,
            Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN,
            Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A,
            Boucher G, Brand S, Buning C, Cohain A, Cichon S, D'Amato M, De Jong
            D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR,
            Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J,
            Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH,
            Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees
            CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W,
            Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter
            JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms
            LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget
            HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ,
            Zeissig S, Zhang B, Zhang CK, Zhao H, Silverberg MS, Annese V,
            Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt
            EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC and Cho JH.
  CONSRTM   International IBD Genetics Consortium (IIBDGC)
  TITLE     Host-microbe interactions have shaped the genetic architecture of
            inflammatory bowel disease
  JOURNAL   Nature 491 (7422), 119-124 (2012)
   PUBMED   23128233
REFERENCE   5  (bases 1 to 4342)
  AUTHORS   Naji L, Pacholsky D and Aspenstrom P.
  TITLE     ARHGAP30 is a Wrch-1-interacting protein involved in actin dynamics
            and cell adhesion
  JOURNAL   Biochem Biophys Res Commun 409 (1), 96-102 (2011)
   PUBMED   21565175
  REMARK    GeneRIF: A screen for Wrch-1 binding-partners identified the novel
            RhoGAP protein, ARHGAP30, as a Wrch-1 interactor.
REFERENCE   6  (bases 1 to 4342)
  AUTHORS   Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M and
            Peters EC.
  TITLE     Robust phosphoproteomic profiling of tyrosine phosphorylation sites
            from human T cells using immobilized metal affinity chromatography
            and tandem mass spectrometry
  JOURNAL   Anal Chem 76 (10), 2763-2772 (2004)
   PUBMED   15144186
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK160366.1, SRR1803614.7560.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368013.8/ ENSP00000356992.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK160366.1 and AL591806.16.
            On Nov 22, 2018 this sequence version replaced NM_001025598.1.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4342
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..4342
                     /gene="ARHGAP30"
                     /note="Rho GTPase activating protein 30"
                     /db_xref="GeneID:257106"
                     /db_xref="HGNC:HGNC:27414"
                     /db_xref="MIM:614264"
     misc_feature    238..240
                     /gene="ARHGAP30"
                     /note="upstream in-frame stop codon"
     CDS             268..3573
                     /gene="ARHGAP30"
                     /note="isoform 1 is encoded by transcript variant 1; rho
                     GTPase-activating protein 30; rho-type GTPase-activating
                     protein 30"
                     /codon_start=1
                     /product="rho GTPase-activating protein 30 isoform 1"
                     /protein_id="NP_001020769.1"
                     /db_xref="CCDS:CCDS30918.1"
                     /db_xref="GeneID:257106"
                     /db_xref="HGNC:HGNC:27414"
                     /db_xref="MIM:614264"
                     /translation="MKSRQKGKKKGSAKERVFGCDLQEHLQHSGQEVPQVLKSCAEFVE
                     EYGVVDGIYRLSGVSSNIQKLRQEFESERKPDLRRDVYLQDIHCVSSLCKAYFRELPDP
                     LLTYRLYDKFAEAVGVQLEPERLVKILEVLRELPVPNYRTLEFLMRHLVHMASFSAQTN
                     MHARNLAIVWAPNLLRSKDIEASGFNGTAAFMEVRVQSIVVEFILTHVDQLFGGAALSG
                     GEVESGWRSLPGTRASGSPEDLMPRPLPYHLPSILQAGDGPPQMRPYHTIIEIAEHKRK
                     GSLKVRKWRSIFNLGRSGHETKRKLPRGAEDREDKSNKGTLRPAKSMDSLSAAAGASDE
                     PEGLVGPSSPRPSPLLPESLENDSIEAAEGEQEPEAEALGGTNSEPGTPRAGRSAIRAG
                     GSSRAERCAGVHISDPYNVNLPLHITSILSVPPNIISNVSLARLTRGLECPALQHRPSP
                     ASGPGPGPGLGPGPPDEKLEASPASSPLADSGPDDLAPALEDSLSQEVQDSFSFLEDSS
                     SSEPEWVGAEDGEVAQAEAAGAAFSPGEDDPGMGYLEELLGVGPQVEEFSVEPPLDDLS
                     LDEAQFVLAPSCCSLDSAGPRPEVEEENGEEVFLSAYDDLSPLLGPKPPIWKGSGSLEG
                     EAAGCGRQALGQGGEEQACWEVGEDKQAEPGGRLDIREEAEGSPETKVEAGKASEDRGE
                     AGGSQETKVRLREGSREETEAKEEKSKGQKKADSMEAKGVEEPGGDEYTDEKEKEIERE
                     EDEQREEAQVEAGRDLEQGAQEDQVAEEKWEVVQKQEAEGVREDEDKGQREKGYHEARK
                     DQGDGEDSRSPEAATEGGAGEVSKERESGDGEAEGDQRAGGYYLEEDTLSEGSGVASLE
                     VDCAKEGNPHSSEMEEVAPQPPQPEEMEPEGQPSPDGCLCPCSLGLGGVGMRLASTLVQ
                     VQQVRSVPVVPPKPQFAKMPSAMCSKIHVAPANPCPRPGRLDGTPGERAWGSRASRSSW
                     RNGGSLSFDAAVALARDRQRTEAQGVRRTQTCTEGGDYCLIPRTSPCSMISAHSPRPLS
                     CLELPSEGAEGSGSRSRLSLPPREPQVPDPLLSSQRRSYAFETQANPGKGEGL"
     misc_feature    937..996
                     /gene="ARHGAP30"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6I6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1165..1467
                     /gene="ARHGAP30"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6I6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1618..1854
                     /gene="ARHGAP30"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6I6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1993..1995
                     /gene="ARHGAP30"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q7Z6I6.3); phosphorylation site"
     misc_feature    2128..2985
                     /gene="ARHGAP30"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6I6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3160..3240
                     /gene="ARHGAP30"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6I6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3253..3255
                     /gene="ARHGAP30"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q7Z6I6.3); phosphorylation site"
     misc_feature    3415..3570
                     /gene="ARHGAP30"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z6I6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4322..4327
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGAP30"
                     /note="hexamer: AATAAA"
     polyA_site      4342
                     /gene="ARHGAP30"
                     /note="major polyA site"
ORIGIN
        1 gagtgccagg ctgggccacg agacacagga cacaatttct tgccagggtc ctggtagctt
       61 cctcttcaac agccacttcc gtgtggccgg ggccccaggg gcaggagctg ctgcccgttg
      121 cccaggccac cctccacccc caattgggag ccctgccccc ctggggccgg gccaagccca
      181 gcagctggct gggatcccat gggggactgg tagggcacag gtcttggggg atagaggtga
      241 ccgggccagt gccctggggc tctggccatg aagtctcggc agaaaggaaa gaagaagggc
      301 agcgcaaagg agcgggtttt tgggtgcgac ttgcaggagc acctgcagca ctcaggccag
      361 gaggtgcccc aggtgctaaa gagctgtgca gaatttgtgg aggagtatgg agtggtggat
      421 gggatctacc gcctctcagg ggtctcctcc aacatccaga agcttcggca ggaatttgag
      481 tcagagcgga agccagacct gcgtcgggat gtttacctcc aagacattca ctgcgtctcc
      541 tccctgtgca aggcctattt cagagaactg ccggatcccc tgctcactta ccggctctat
      601 gacaagtttg ctgaggctgt aggagtgcaa ttggaacctg agcgcttggt caagatccta
      661 gaggtgcttc gggaactccc tgtcccaaac tacaggaccc tggagttcct catgaggcac
      721 ttggtacaca tggcctcatt cagtgcccag accaacatgc atgctcgcaa cctggccatc
      781 gtgtgggctc ccaacctgct gaggtctaag gacatagagg cctcaggctt caatgggaca
      841 gcggccttca tggaggtgcg ggtacaatcc atcgtcgtgg agttcatcct cacacacgtg
      901 gaccagctct ttgggggtgc tgccctctct ggtggtgagg tggagagtgg gtggcgatcg
      961 cttccaggga cccgggcatc aggcagcccc gaggacctta tgcccaggcc actgccttat
     1021 cacctgccta gcatactgca ggctggcgat ggacccccac agatgcggcc ctaccatact
     1081 atcatcgaga ttgcagagca caagaggaag gggtctttga aggtcaggaa gtggaggtct
     1141 atcttcaatt taggtcgctc tggccatgag actaagcgta aacttccacg gggggctgag
     1201 gacagggagg ataaatccaa caaggggaca ctgcggccag ccaaaagcat ggactcactg
     1261 agtgctgcag ctggggccag tgatgagcca gaggggctgg tggggcccag cagcccccgg
     1321 ccaagcccat tgctgcctga gagcttggag aacgattcta tagaggcagc agagggtgaa
     1381 caggagcctg aggcagaagc actgggtggc acaaactctg aaccaggcac accacgagct
     1441 gggcggtcag ccatccgggc tgggggcagc agccgtgcag aacgctgtgc tggtgtccac
     1501 atctcagacc cctacaatgt caacctcccg ctacacatca cctctatcct cagtgtgccc
     1561 ccgaacatca tctctaacgt ttccttggcc aggctcaccc gtggccttga gtgccctgct
     1621 ctacagcacc ggccaagccc tgcctctggc cctggccctg gccctggcct tggccctggc
     1681 cccccagatg aaaagttgga agcaagtcca gcctcaagtc ccctggcaga ctcaggccca
     1741 gacgacttgg ctcctgccct ggaggactcg ctgtcccagg aggtgcagga ctccttctcc
     1801 ttcctagagg actcaagcag ctcagaacct gagtgggtgg gggcagagga tggggaggtg
     1861 gcccaggcag aagcagcagg agcagccttc tcccctgggg aggacgaccc tgggatgggc
     1921 tacctggagg agctcctggg agttgggcct caggtggagg agttctctgt ggagccaccc
     1981 ctggatgacc tgtctctgga tgaggcacag tttgtcttgg cccccagctg ctgttccctg
     2041 gactccgctg gccccaggcc tgaagttgag gaggaaaatg gggaggaagt tttcctgagt
     2101 gcctatgatg acctaagtcc ccttctggga cctaaacccc caatctggaa gggttcaggg
     2161 agtctggagg gagaggcagc aggatgtgga aggcaggctc tgggacaggg tggggaagag
     2221 caggcatgct gggaagttgg ggaggacaag caggctgagc ctggaggcag gctagacatc
     2281 agggaagagg cagagggaag tccagagacc aaggtggagg ctggaaaggc cagtgaggat
     2341 agaggggagg ctgggggaag ccaagagaca aaagtcagat tgagagaagg gagtagggaa
     2401 gagacagagg ccaaggaaga gaagtccaaa ggtcagaaga aggctgacag tatggaggct
     2461 aaaggtgtgg aggaaccagg aggagatgag tatacagatg agaaggaaaa agaaattgag
     2521 agagaagagg atgaacaaag agaggaagcc caggtagaag ctggaaggga cctagagcaa
     2581 ggggcccagg aagatcaagt tgctgaggag aaatgggaag ttgtacagaa acaagaggct
     2641 gagggagtca gagaggatga ggacaaagga cagagggaga aggggtacca tgaagcaaga
     2701 aaagaccaag gagatggtga agacagcaga agcccagaag cagcaactga aggaggagca
     2761 ggggaggtca gcaaggaacg ggagagtggg gatggagagg ctgagggaga ccagagggct
     2821 ggagggtact atttagaaga ggacaccctc tctgaaggtt caggtgtagc gtccctggag
     2881 gttgactgtg ccaaagaggg caatcctcac tcttctgaga tggaagaggt agccccacag
     2941 ccacctcagc cagaggagat ggagcctgag gggcagccca gtccagacgg ctgtctatgc
     3001 ccctgttctc ttggcctggg tggcgtgggc atgcgtctag cttccactct ggttcaggtc
     3061 caacaggtcc gctctgtgcc tgtggtgccc cccaagccac agtttgccaa gatgcccagt
     3121 gcaatgtgta gcaagattca tgtggcacct gcaaatccat gcccgaggcc tggccggctt
     3181 gatgggactc ctggagaaag ggcttggggg tcccgagctt ctcgatcctc ttggaggaat
     3241 gggggtagtc tttcctttga tgctgctgtg gccctagccc gggaccgcca aaggactgag
     3301 gctcaaggag ttcggcgaac ccagacctgt actgagggtg gggattactg cctcatcccc
     3361 agaacctccc cttgtagcat gatctctgcc cattctcctc ggccccttag ctgcctggag
     3421 ctcccatctg aaggtgcaga agggtctgga tcccggagtc gtcttagtct gccccccaga
     3481 gaaccccagg ttcctgaccc cctgttgtcc tctcagcgca ggtcatatgc atttgaaaca
     3541 caggctaacc ctgggaaagg tgaaggactg tgattaggac cacagccctg ggcaaagggg
     3601 accagcaagt tgtcttgaat ctccagggtt cctgactagc tgtctcctct gcagcatgag
     3661 cagctgtagt gcccaactct ataggctttg gccctccagc ttctctcttt gactgtggga
     3721 ggcactgcct tggttggttt acctgaactt gtctccgaca caaagcactt atctcttagg
     3781 agattcccaa gaaagtcaac aagatcttgt tcccagggag tgggtcattg gccaaaggga
     3841 acataaggta ggcagaaaac ttaaaagagt ttgttaaagt gaagactgga gaaattcctc
     3901 ccttcctctg agctgtgaat ctctcttcat gaaagccaaa ggtagagaca gggaggacag
     3961 ggccaggtta gggccttcca cacacaaaca cttctagagt tgcccattcc tgttatgttc
     4021 ttggacccta agatacctcc tgtccctttt aaatccagat taagagaaac gtccaggaag
     4081 agctctttga agccctcaat atttgttgga gggactggac tcctctccag ctccccaccc
     4141 tctgcctcca gtcaccatgt gcaagagagg tcctgtacag atctctctgg gctctccttt
     4201 ctcctttgga ataacttgtt cctatttcag gaaagggaaa tggtgtcact caggccctgg
     4261 gactgcttct ccagccaggc tggggccaca ggtcccactc tagtgaaggt caatgtctca
     4321 gaataaaagc tgtattttta ca
//
LOCUS       NM_001025603            3570 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens regulatory factor X5 (RFX5), transcript variant 2,
            mRNA.
ACCESSION   NM_001025603
VERSION     NM_001025603.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3570)
  AUTHORS   Guo L and Liu D.
  TITLE     Identification of RFX5 as prognostic biomarker and associated with
            immune infiltration in stomach adenocarcinoma
  JOURNAL   Eur J Med Res 27 (1), 164 (2022)
   PUBMED   36045400
  REMARK    GeneRIF: Identification of RFX5 as prognostic biomarker and
            associated with immune infiltration in stomach adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3570)
  AUTHORS   Chen DB, Xie XW, Zhao YJ, Wang XY, Liao WJ, Chen P, Deng KJ, Fei R,
            Qin WY, Wang JH, Wu X, Shao QX, Wei L and Chen HS.
  TITLE     RFX5 promotes the progression of hepatocellular carcinoma through
            transcriptional activation of KDM4A
  JOURNAL   Sci Rep 10 (1), 14538 (2020)
   PUBMED   32883983
  REMARK    GeneRIF: RFX5 promotes the progression of hepatocellular carcinoma
            through transcriptional activation of KDM4A. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 3570)
  AUTHORS   Wang N, Jia ZL and Wu Q.
  TITLE     RFX5 regulates gene expression of the Pcdhalpha cluster
  JOURNAL   Yi Chuan 42 (8), 760-774 (2020)
   PUBMED   32952112
  REMARK    GeneRIF: RFX5 regulates gene expression of the Pcdhalpha cluster.
REFERENCE   4  (bases 1 to 3570)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 3570)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S, Das
            PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A, Ginno
            PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of human
            transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (bases 1 to 3570)
  AUTHORS   Moreno CS, Rogers EM, Brown JA and Boss JM.
  TITLE     Regulatory factor X, a bare lymphocyte syndrome transcription
            factor, is a multimeric phosphoprotein complex
  JOURNAL   J Immunol 158 (12), 5841-5848 (1997)
   PUBMED   9190936
REFERENCE   7  (bases 1 to 3570)
  AUTHORS   Scholl T, Mahanta SK and Strominger JL.
  TITLE     Specific complex formation between the type II bare lymphocyte
            syndrome-associated transactivators CIITA and RFX5
  JOURNAL   Proc Natl Acad Sci U S A 94 (12), 6330-6334 (1997)
   PUBMED   9177217
REFERENCE   8  (bases 1 to 3570)
  AUTHORS   Durand B, Sperisen P, Emery P, Barras E, Zufferey M, Mach B and
            Reith W.
  TITLE     RFXAP, a novel subunit of the RFX DNA binding complex is mutated in
            MHC class II deficiency
  JOURNAL   EMBO J 16 (5), 1045-1055 (1997)
   PUBMED   9118943
REFERENCE   9  (bases 1 to 3570)
  AUTHORS   Villard J, Reith W, Barras E, Gos A, Morris MA, Antonarakis SE, Van
            den Elsen PJ and Mach B.
  TITLE     Analysis of mutations and chromosomal localisation of the gene
            encoding RFX5, a novel transcription factor affected in major
            histocompatibility complex class II deficiency
  JOURNAL   Hum Mutat 10 (6), 430-435 (1997)
   PUBMED   9401005
REFERENCE   10  (bases 1 to 3570)
  AUTHORS   Steimle V, Durand B, Barras E, Zufferey M, Hadam MR, Mach B and
            Reith W.
  TITLE     A novel DNA-binding regulatory factor is mutated in primary MHC
            class II deficiency (bare lymphocyte syndrome)
  JOURNAL   Genes Dev 9 (9), 1021-1032 (1995)
   PUBMED   7744245
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.3243854.1,
            SRR14038197.1380099.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000452671.7/ ENSP00000389130.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL391069.11.
            On Jun 2, 2019 this sequence version replaced NM_001025603.1.
            Summary: A lack of MHC-II expression results in a severe
            immunodeficiency syndrome called MHC-II deficiency, or the bare
            lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation
            groups have been identified in B-cell lines established from
            patients with BLS. The molecular defects in complementation groups
            B, C, and D all lead to a deficiency in RFX, a nuclear protein
            complex that binds to the X box of MHC-II promoters. The lack of
            RFX binding activity in complementation group C results from
            mutations in the RFX5 gene encoding the 75-kD subunit of RFX
            (Steimle et al., 1995). RFX5 is the fifth member of the growing
            family of DNA-binding proteins sharing a novel and highly
            characteristic DNA-binding domain called the RFX motif. Multiple
            alternatively spliced transcript variants have been found but the
            full-length natures of only two have been determined. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3570
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..3570
                     /gene="RFX5"
                     /note="regulatory factor X5"
                     /db_xref="GeneID:5993"
                     /db_xref="HGNC:HGNC:9986"
                     /db_xref="MIM:601863"
     misc_feature    81..83
                     /gene="RFX5"
                     /note="upstream in-frame stop codon"
     CDS             174..2024
                     /gene="RFX5"
                     /note="isoform 1 is encoded by transcript variant 2;
                     DNA-binding protein RFX5; regulatory factor X 5; regulatory
                     factor X, 5 (influences HLA class II expression)"
                     /codon_start=1
                     /product="DNA-binding protein RFX5 isoform 1"
                     /protein_id="NP_001020774.1"
                     /db_xref="CCDS:CCDS994.1"
                     /db_xref="GeneID:5993"
                     /db_xref="HGNC:HGNC:9986"
                     /db_xref="MIM:601863"
                     /translation="MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNK
                     VEGILQDVQKFSDNDKLYLYLQLPSGPTTGDKSSEPSTLSNEEYMYAYRWIRNHLEEHT
                     DTCLPKQSVYDAYRKYCESLACCRPLSTANFGKIIREIFPDIKARRLGGRGQSKYCYSG
                     IRRKTLVSMPPLPGLDLKGSESPEMGPEVTPAPRDELVEAACALTCDWAERILKRSFSS
                     IVEVARFLLQQHLISARSAHAHVLKAMGLAEEDEHAPRERSSKPKNGLENPEGGAHKKP
                     ERLAQPPKDLEARTGAGPLARGERKKSVVESSAPGANNLQVNALVARLPLLLPRAPRSL
                     IPPIPVSPPILAPRLSSGALKVATLPLSSRAGAPPAAVPIINMILPTVPALPGPGPGPG
                     RAPPGGLTQPRGTENREVGIGGDQGPHDKGVKRTAEVPVSEASGQAPPAKAAKQDIEDT
                     ASDAKRKRGRPRKKSGGSGERNSTPLKSAAAMESAQSSRLPWETWGSGGEGNSAGGAER
                     PGPMGEAEKGAVLAQGQGDGTVSKGGRGPGSQHTKEAEDKIPLVPSKVSVIKGSRSQKE
                     AFPLAKGEVDTAPQGNKDLKEHVLQSSLSQEHKDPKATPP"
     misc_feature    174..260
                     /gene="RFX5"
                     /note="propagated from UniProtKB/Swiss-Prot (P48382.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    177..179
                     /gene="RFX5"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P48382.1); acetylation site"
     misc_feature    201..203
                     /gene="RFX5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P48382.1); phosphorylation site"
     misc_feature    246..443
                     /gene="RFX5"
                     /note="propagated from UniProtKB/Swiss-Prot (P48382.1);
                     Region: N-terminal domain"
     misc_feature    357..371
                     /gene="RFX5"
                     /note="propagated from UniProtKB/Swiss-Prot (P48382.1);
                     Region: Leucine-rich region, critical for dimer formation
                     and for interaction with RFXAP"
     misc_feature    690..707
                     /gene="RFX5"
                     /note="propagated from UniProtKB/Swiss-Prot (P48382.1);
                     Region: PxLPxI/L motif, mediates interaction with RFXANK.
                     /evidence=ECO:0000269|PubMed:22649097"
     misc_feature    726..728
                     /gene="RFX5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P48382.1); phosphorylation site"
     misc_feature    927..1115
                     /gene="RFX5"
                     /note="propagated from UniProtKB/Swiss-Prot (P48382.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1344..2021
                     /gene="RFX5"
                     /note="propagated from UniProtKB/Swiss-Prot (P48382.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2230..2235
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFX5"
                     /note="hexamer: AATAAA"
     polyA_site      2250
                     /gene="RFX5"
     regulatory      3550..3555
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFX5"
                     /note="hexamer: ATTAAA"
     polyA_site      3570
                     /gene="RFX5"
                     /note="major polyA site"
ORIGIN
        1 gccaggacct tggggctggg ctggagtgaa ggtggctacg agttttccag atttaggaga
       61 cttcagaaag gtggggcaga tagaatggag atggcaaaga tctctttggg catatatggg
      121 cctggcgaag taatggaata atttctaatt ttcggagaag ccctcatgcc gggatggcag
      181 aagatgagcc tgatgctaag agccccaaga ctgggggaag ggccccccca ggtggtgctg
      241 aggctgggga acctaccacc cttcttcaga ggctccgagg taccatttcc aaggccgtgc
      301 agaacaaagt agaggggatc ctgcaagatg tacagaaatt ttctgacaat gacaagctgt
      361 atctctacct tcagctcccc tcaggaccca ccactggaga caaaagctca gagccaagta
      421 cactgagcaa tgaggagtac atgtatgcct ataggtggat ccgcaaccac ctggaagagc
      481 acactgacac ctgtctgcca aagcaaagtg tttatgatgc ctatcggaag tactgtgaga
      541 gtcttgcctg ttgccgccca ctcagcacag ccaactttgg caagatcatc agagagatct
      601 tccctgacat caaagctcga aggcttggtg gccggggcca gtccaaatat tgctacagtg
      661 gcataaggag gaagaccttg gtgtctatgc cacccctgcc tggacttgac ctaaagggtt
      721 ctgagagtcc agaaatgggc ccagaagtaa ccccagcacc tcgagatgaa ctggtggagg
      781 cagcgtgtgc cctgacctgt gactgggcag agcggatcct gaaacggtcc ttcagttcca
      841 tcgttgaggt cgcccgcttc ctgctacagc agcatctcat ctctgcccga tctgcacatg
      901 cccatgtgct taaggccatg gggctcgctg aagaggacga acatgcacct cgggaacggt
      961 catctaaacc aaagaatggt ttagagaacc cagagggtgg agcccacaag aagccagaga
     1021 gactggccca gcctcctaag gatctggaag cccgaactgg ggccggtcct ctcgcacgtg
     1081 gagagcggaa gaagagtgta gttgagagct cggccccagg agccaataac ctgcaggtta
     1141 atgccctagt ggctcggctg cctctgctcc ttccccgggc ccctcgctca ctaattccgc
     1201 caatcccagt ctctccacct attctggccc ccaggctttc ttcaggtgcc ctgaaagtgg
     1261 ctacactgcc tctgtctagt agggccgggg cacccccagc agctgtgccc atcattaaca
     1321 tgatcttacc aactgttcct gctttgcctg gacctggacc tgggcctggg cgagctccac
     1381 ctgggggact cactcagccc cggggcacag agaacagaga ggtaggcata ggtggtgacc
     1441 aaggaccaca tgacaagggt gtcaagagga cagctgaagt acctgtgagt gaggccagtg
     1501 ggcaggctcc accagctaaa gcagcaaagc aggatataga ggatacagca agtgatgcca
     1561 aaaggaaacg ggggcgccct cgaaaaaagt caggtggaag tggggaaagg aattctaccc
     1621 ctctcaagtc agcagctgcc atggaatctg cccagtcctc aaggttacca tgggagacat
     1681 ggggctcagg aggggaaggc aactcagctg gaggggcaga gaggccaggg ccaatgggag
     1741 aggctgaaaa gggggcagta cttgcccagg gtcagggaga tggtactgtt tccaaaggag
     1801 gaaggggccc cggttcccag cataccaaag aagcagaaga taaaattccc ttggtcccct
     1861 caaaagtgag tgtcatcaag ggcagcagaa gccaaaagga ggcttttcct ttggcaaagg
     1921 gagaggtaga cactgcacca cagggtaata aagacttaaa ggagcatgtg cttcaaagtt
     1981 ccttatccca ggagcataaa gacccaaaag caacaccccc atgatacagg tctgtgggga
     2041 agagtgttta tatccctacg ttaactttgc ctagtagagg cccttctttg cacttgcttc
     2101 tcatttggct attcttttcc taaggaagtc cattctcctc tgtacagaca gctgagtcac
     2161 ccagtctact tagtacctgg ttgctgcctc tgaccttttc agcttgatac cctgggcttt
     2221 agtgtaacca ataaatctgt agtgacctta cctgtattcc ctgtgctatc ctgtgggaag
     2281 gtaggaatgg gctaagtatg atgaatatat aggttaggga tcttttggtt ttaaatcaca
     2341 gaaaacctaa ttcaaactgg cttaaaataa aaaggattta ttggttcatg taactagaaa
     2401 gtccataggt agtgctggct ccaggtgaag acttgaccca gtagttcagt atgtctctaa
     2461 ataccggact gacttttttc tcactgttgc atcttctgta ggaccattta agtctgggcc
     2521 acttaatggc tgccagcatt cctaagatta cacttttccc catttatgtc caatcagaaa
     2581 aagaaggcat ctttgtacca gaaatctcag caaaagccct aatattcaca ctgattaggc
     2641 ctgggtcaca tgtccaccct gaccaatcac tgtggccagg aggatgatac atgctaattt
     2701 gcttattcta tatcatggac aacacctttg gggaaaaggg tgggggtcag cctccccaaa
     2761 atcacatgga ttccccaagt ggaaactagg agcagggagt tgcttgggtg gccgctaaca
     2821 ccaggctact cttattttag cttgctaagt tgagatcagc tagacctgct ttcttttctc
     2881 ctcagtcttg catttccctc aatacaagct gtagcctctt tcctcgtttc tagtctcaga
     2941 aggaaggaga gggaagccat tctcctctag ggactcttca gtctcattta gatgatagtc
     3001 cctttttttc tacctccata ttagagatgg agctccttcc ttttcctgtt tcttaatttt
     3061 tgtcttctca ttcctgcttc cctctcaccc tattgccagt tccaccaact agagtgaaag
     3121 acttcctagc catttcatta aatctattct gtatccacca ggtggcagca tcttgtcata
     3181 cgtgtcagga cttaggactg cggggtttag gttagatgtc acggaaaaag ctagttctgt
     3241 ggtcaggcgg caccaatgag aaaggaatgc agaccctcca gatgtatcct tgggaaaagc
     3301 agtaaaccaa ctaatattta ttgaagacct actttgtcct ctacataggg tagcttctgt
     3361 cagggaatct tggttcttcc caagaaacac tgattttctt tcagggagac ttcatgtgtt
     3421 catttatttc caccacagca gattttaaga aattataata tgtaatattt gatatctata
     3481 aagagtatat ctaacgtgaa taaattatga agcatactaa tgagtaccta tgacccataa
     3541 cacatataca ttaaaacatt ttaaatacca
//
LOCUS       NM_001025616            4621 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript
            variant 1, mRNA.
ACCESSION   NM_001025616
VERSION     NM_001025616.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4621)
  AUTHORS   Yang W, Wang B, Yu Q, Liu T, Li T, Tian T, Jin A, Ding L, Chen W,
            Wang H, Xian J, Pan B, Zhou J, Fan J, Yang X and Guo W.
  TITLE     ARHGAP24 represses beta-catenin transactivation-induced invasiveness
            in hepatocellular carcinoma mainly by acting as a GTPase-independent
            scaffold
  JOURNAL   Theranostics 12 (14), 6189-6206 (2022)
   PUBMED   36168627
  REMARK    GeneRIF: ARHGAP24 represses beta-catenin transactivation-induced
            invasiveness in hepatocellular carcinoma mainly by acting as a
            GTPase-independent scaffold. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4621)
  AUTHORS   Saito K, Mori M, Kambara N and Ohta Y.
  TITLE     FilGAP, a GAP protein for Rac, regulates front-rear polarity and
            tumor cell migration through the ECM
  JOURNAL   FASEB J 35 (4), e21508 (2021)
   PUBMED   33710706
  REMARK    GeneRIF: FilGAP, a GAP protein for Rac, regulates front-rear
            polarity and tumor cell migration through the ECM.
REFERENCE   3  (bases 1 to 4621)
  AUTHORS   Chao H, Zhang M, Hou H, Zhang Z and Li N.
  TITLE     HOTAIRM1 suppresses cell proliferation and invasion in ovarian
            cancer through facilitating ARHGAP24 expression by sponging
            miR-106a-5p
  JOURNAL   Life Sci 243, 117296 (2020)
   PUBMED   31935390
  REMARK    GeneRIF: study showed that HOTAIRM1 suppressed ovarian cancer
            progression through derepression of ARHGAP24 by sponging miR-106a-5p
REFERENCE   4  (bases 1 to 4621)
  AUTHORS   Tsutsumi K, Nakamura Y, Kitagawa Y, Suzuki Y, Shibagaki Y, Hattori S
            and Ohta Y.
  TITLE     AGAP1 regulates subcellular localization of FilGAP and control
            cancer cell invasion
  JOURNAL   Biochem Biophys Res Commun 522 (3), 676-683 (2020)
   PUBMED   31785816
  REMARK    GeneRIF: AGAP1 regulates subcellular localization of FilGAP and
            control cancer cell invasion.
REFERENCE   5  (bases 1 to 4621)
  AUTHORS   Ehrlicher AJ, Nakamura F, Hartwig JH, Weitz DA and Stossel TP.
  TITLE     Mechanical strain in actin networks regulates FilGAP and integrin
            binding to filamin A
  JOURNAL   Nature 478 (7368), 260-263 (2011)
   PUBMED   21926999
  REMARK    GeneRIF: Consistent with structural predictions, strain increases
            beta-integrin binding to FLNA, whereas it causes FilGAP to
            dissociate from FLNA, providing a direct and specific molecular
            basis for cellular mechanotransduction Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 4621)
  AUTHORS   Ohta Y, Hartwig JH and Stossel TP.
  TITLE     FilGAP, a Rho- and ROCK-regulated GAP for Rac binds filamin A to
            control actin remodelling
  JOURNAL   Nat Cell Biol 8 (8), 803-814 (2006)
   PUBMED   16862148
REFERENCE   7  (bases 1 to 4621)
  AUTHORS   Lavelin I and Geiger B.
  TITLE     Characterization of a novel GTPase-activating protein associated
            with focal adhesions and the actin cytoskeleton
  JOURNAL   J Biol Chem 280 (8), 7178-7185 (2005)
   PUBMED   15611138
  REMARK    GeneRIF: propose that RC-GAP72 affects cellular morphology by
            targeting activated Cdc42 and Rac1 GTPases to specific subcellular
            sites, triggering local morphological changes
REFERENCE   8  (bases 1 to 4621)
  AUTHORS   Su ZJ, Hahn CN, Goodall GJ, Reck NM, Leske AF, Davy A, Kremmidiotis
            G, Vadas MA and Gamble JR.
  TITLE     A vascular cell-restricted RhoGAP, p73RhoGAP, is a key regulator of
            angiogenesis
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12212-12217 (2004)
   PUBMED   15302923
  REMARK    GeneRIF: p73, a vascular cell-specific GTPase-activating protein, is
            an important modulator of angiogenesis
REFERENCE   9  (bases 1 to 4621)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of ARHGAP24 and ARHGAP25 genes
            in silico
  JOURNAL   Int J Mol Med 14 (2), 333-338 (2004)
   PUBMED   15254788
REFERENCE   10  (bases 1 to 4621)
  AUTHORS   Lee SY, Obata Y, Yoshida M, Stockert E, Williamson B, Jungbluth AA,
            Chen YT, Old LJ and Scanlan MJ.
  TITLE     Immunomic analysis of human sarcoma
  JOURNAL   Proc Natl Acad Sci U S A 100 (5), 2651-2656 (2003)
   PUBMED   12601173
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK091196.1, SRR1803614.128891.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000395184.6/ ENSP00000378611.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB109452.1, AK091196.1,
            DA815489.1, BC098580.1 and AC104059.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001025616.2.
            Summary: This gene encodes a Rho-GTPase activating protein, which
            is specific for the small GTPase family member Rac. Binding of the
            encoded protein by filamin A targets it to sites of membrane
            protrusion, where it antognizes Rac. This results in suppression of
            lamellae formation and promotion of retraction to regulate cell
            polarity. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Sep 2016].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4621
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.23-q21.3"
     gene            1..4621
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="Rho GTPase activating protein 24"
                     /db_xref="GeneID:83478"
                     /db_xref="HGNC:HGNC:25361"
                     /db_xref="MIM:610586"
     CDS             431..2677
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="isoform 1 is encoded by transcript variant 1; rho
                     GTPase-activating protein 24; sarcoma antigen NY-SAR-88;
                     rhoGAP of 73 kDa; filamin-A-associated RhoGAP; RAC1- and
                     CDC42-specific GTPase-activating protein of 72 kDa"
                     /codon_start=1
                     /product="rho GTPase-activating protein 24 isoform 1"
                     /protein_id="NP_001020787.2"
                     /db_xref="CCDS:CCDS34025.1"
                     /db_xref="GeneID:83478"
                     /db_xref="HGNC:HGNC:25361"
                     /db_xref="MIM:610586"
                     /translation="MEENNDSTENPQQGQGRQNAIKCGWLRKQGGFVKTWHTRWFVLKG
                     DQLYYFKDEDETKPLGTIFLPGNKVSEHPCNEENPGKFLFEVVPGGDRDRMTANHESYL
                     LMASTQNDMEDWVKSIRRVIWGPFGGGIFGQKLEDTVRYEKRYGNRLAPMLVEQCVDFI
                     RQRGLKEEGLFRLPGQANLVKELQDAFDCGEKPSFDSNTDVHTVASLLKLYLRELPEPV
                     IPYAKYEDFLSCAKLLSKEEEAGVKELAKQVKSLPVVNYNLLKYICRFLDEVQSYSGVN
                     KMSVQNLATVFGPNILRPKVEDPLTIMEGTVVVQQLMSVMISKHDCLFPKDAELQSKPQ
                     DGVSNNNEIQKKATMGQLQNKENNNTKDSPSRQCSWDKSESPQRSSMNNGSPTALSGSK
                     TNSPKNSVHKLDVSRSPPLMVKKNPAFNKGSGIVTNGSFSSSNAEGLEKTQTTPNGSLQ
                     ARRSSSLKVSGTKMGTHSVQNGTVRMGILNSDTLGNPTNVRNMSWLPNGYVTLRDNKQK
                     EQAGELGQHNRLSTYDNVHQQFSMMNLDDKQSIDSATWSTSSCEISLPENSNSCRSSTT
                     TCPEQDFFGGNFEDPVLDGPPQDDLSHPRDYESKSDHRSVGGRSSRATSSSDNSETFVG
                     NSSSNHSALHSLVSSLKQEMTKQKIEYESRIKSLEQRNLTLETEMMSLHDELDQERKKF
                     TMIEIKMRNAERAKEDAEKRNDMLQKEMEQFFSTFGELTVEPRRTERGNTIWIQ"
     misc_feature    431..490
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N264.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1490..1858
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N264.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1535..1537
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5U2Z7; propagated from
                     UniProtKB/Swiss-Prot (Q8N264.2); phosphorylation site"
     misc_feature    1601..1603
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16862148; propagated from
                     UniProtKB/Swiss-Prot (Q8N264.2); phosphorylation site"
     misc_feature    1616..1618
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8C4V1; propagated from
                     UniProtKB/Swiss-Prot (Q8N264.2); phosphorylation site"
     misc_feature    1622..1624
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8C4V1; propagated from
                     UniProtKB/Swiss-Prot (Q8N264.2); phosphorylation site"
     misc_feature    1634..1636
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16862148; propagated from
                     UniProtKB/Swiss-Prot (Q8N264.2); phosphorylation site"
     misc_feature    1667..1669
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16862148; propagated from
                     UniProtKB/Swiss-Prot (Q8N264.2); phosphorylation site"
     misc_feature    1673..1675
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16862148,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N264.2); phosphorylation site"
     misc_feature    1739..1741
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16862148; propagated from
                     UniProtKB/Swiss-Prot (Q8N264.2); phosphorylation site"
     misc_feature    1784..1786
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:16862148; propagated from
                     UniProtKB/Swiss-Prot (Q8N264.2); phosphorylation site"
     misc_feature    2174..2353
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N264.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3161..3166
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="hexamer: ATTAAA"
     polyA_site      3178
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
     regulatory      3250..3255
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="hexamer: AATACA"
     polyA_site      3271
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
     regulatory      4603..4608
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="hexamer: AATAAA"
     polyA_site      4621
                     /gene="ARHGAP24"
                     /gene_synonym="FILGAP; p73; p73RhoGAP; RC-GAP72; RCGAP72"
                     /note="major polyA site"
ORIGIN
        1 ctttctaact tctgggactc tttgcgcaac tgctaggatt tctcaagtgc atgtggcaac
       61 acagcccagc tccgggtgga aaccagcagg gctctggagg ggctcggaga ccaggggagc
      121 tgtcaaggct gcggcgggga ccagagagga gcctggcggg ggtggctggg tggctggggg
      181 aatcccccca acttcccatc gcaggcgcag ctctctcggc cgcctatttc ctccgaaacc
      241 cgcgctgcgg agcagcccag tgcatagagt tcaacacttc cccttgttgt ggaaagtaaa
      301 ggagcctcac taccaccttt ttttctttgc gttttcttac tgctggtcct gggagccttt
      361 tccttcggag cagcagccct gtccggcatc tgtcttgagc tcccagcaag gaaagtccat
      421 cagcttgata atggaggaga acaatgactc cacggagaac ccccaacaag gccaagggcg
      481 gcagaatgcc atcaagtgtg ggtggctgag gaagcaagga ggctttgtca agacttggca
      541 tactcgctgg tttgtgctca agggggatca gctctattat ttcaaagatg aagatgaaac
      601 caagcccttg ggtactattt ttctgcctgg aaataaagtt tctgagcatc cctgcaatga
      661 agagaaccca gggaagttcc tttttgaagt agttccagga ggcgatcgag atcggatgac
      721 agcaaatcat gaaagctacc tcctcatggc aagcacccag aatgatatgg aagactgggt
      781 gaagtcaatc cgccgagtca tatggggacc tttcggagga ggcatttttg gacagaaact
      841 ggaggatact gttcgttatg agaagagata tgggaaccgt ctggctccga tgttggtgga
      901 gcagtgcgtg gactttatcc gacaaagggg gctgaaagaa gagggtctct ttcgactgcc
      961 aggccaggct aatcttgtta aggagctcca agatgccttt gactgtgggg agaagccatc
     1021 atttgacagc aacacagatg tacacacggt ggcatcactt cttaagctgt acctccgaga
     1081 acttccagaa ccagttattc cttatgcgaa gtatgaagat tttttgtcat gtgccaaact
     1141 gctcagcaag gaagaggaag caggtgttaa ggaattagca aagcaggtga agagtttgcc
     1201 agtggtaaat tacaacctcc tcaagtatat ttgcagattc ttggatgaag tacagtccta
     1261 ctcgggagtt aacaaaatga gtgtgcagaa cttggcaacg gtctttggtc ctaatatcct
     1321 gcgccccaaa gtggaagatc ctttgactat catggagggc actgtggtgg tccagcagtt
     1381 gatgtcagtg atgattagca aacatgattg cctctttccc aaagatgcag aactacaaag
     1441 caagccccaa gatggagtga gcaacaacaa tgaaattcag aagaaagcca ccatggggca
     1501 gttacagaac aaggagaaca ataacaccaa ggacagccct agtaggcagt gctcctggga
     1561 caagtctgag tcaccccaga gaagcagcat gaacaatgga tcccccacag ctctatcagg
     1621 cagcaaaacc aacagcccaa agaacagtgt tcacaagcta gatgtgtcta gaagcccccc
     1681 tctcatggtc aaaaagaacc cagcctttaa taagggtagt gggatagtta ccaatgggtc
     1741 cttcagcagc agtaatgcag aaggtcttga gaaaacccaa accaccccca atgggagcct
     1801 acaggccaga aggagctctt cactgaaggt atctggtacc aaaatgggca cgcacagtgt
     1861 acagaatgga acggtgcgca tgggcatttt gaacagcgac acactcggga accccacaaa
     1921 tgttcgaaac atgagctggc tgccaaatgg ctatgtgacc ctgagggata acaagcagaa
     1981 agaacaagct ggagagttag gccagcacaa cagactgtcc acctatgata atgtccatca
     2041 acagttctcc atgatgaacc ttgatgacaa gcagagcatt gacagtgcta cctggtccac
     2101 ttcctcctgt gaaatctccc tccctgagaa ctccaactcc tgtcgctctt ctaccaccac
     2161 ctgcccagag caagactttt ttggggggaa ctttgaggac cctgttttgg atgggccccc
     2221 gcaggacgac ctttcccacc ccagggacta tgaaagcaaa agtgaccaca ggagtgtggg
     2281 aggtcgaagt agtcgtgcca ccagtagcag tgacaacagt gagacatttg tgggcaacag
     2341 cagcagcaac cacagtgcac tgcacagttt agtttccagc ctgaaacagg aaatgaccaa
     2401 acagaagata gagtatgagt ccaggataaa gagcttagaa cagcgaaact tgactttgga
     2461 aacagaaatg atgagcctcc atgatgaact ggatcaggag aggaaaaagt tcacaatgat
     2521 agaaataaaa atgcgaaatg ccgagcgagc aaaagaagat gccgagaaaa gaaatgacat
     2581 gctacagaaa gaaatggagc agtttttttc cacgtttgga gaactgacag tggaacccag
     2641 gagaaccgag agaggaaaca caatatggat tcagtgagcc tgctttcgcc tgctgtctct
     2701 gatggctctg gcaaggactc cagggattct ggtgggatat gacttagaac caggtggctg
     2761 gtcacctgga tgtacagaag tctaactggt gaaggaatat catttacaga cattaaacat
     2821 ccatatctgc aatgtgtacc aaagttatat catgccccat aatgctactg tcaagtgtta
     2881 caactggata tgtgtatata gagtagtttt tcaaaagtaa actaaaaatg agaagcatat
     2941 ttcaagaatt attttattgc aagtcttgta tttaaatgtt aaatcaatat gttgttgcaa
     3001 tttagcttgc tttcaagctt caccccttgc acttaacata agctattttt ggcattgtgt
     3061 tatcatcggc ttattttata gatcaatatt tttatttccc ttttttgctg aggaaatgaa
     3121 gataagcaaa aatataaata tatatataaa tatatgagtt attaaaatca gaagaatact
     3181 ttgtggctgt gctgtttgtg ccaatagact ttgtcatgac caaaaagaga aatgtaaata
     3241 gttttataaa atacagtcga atcaccagga acctttgagc tgcttttaaa attcttcccc
     3301 tggcaccact cagttttgct tttgcgaggc gatttgacat aggaactttg agactccatg
     3361 agaaagtccc tttctgaggc ccactgtcta ccttgccaga tcctcagtgc gtatcgccaa
     3421 tgcaggatgc tccttagaaa agaaaaaatg gtaaagaatg gcatttaacg attcaggctt
     3481 tgaattactc tgtccctctg gaccgaatct ctttaactgc tggatagttt tagaggaatt
     3541 ctcctgctac ttaggtactg ggaaacaatg cttgctaaac catgcccacg tgagcacctg
     3601 tctcccactc aaacctctcc catctcccaa caactgcact ttagaatacc agcagtgaaa
     3661 tggtattact gtttccctct gagtgaaact gctagagtat atgtcacgta gtgacatttt
     3721 tttctcactc aggctattgc catctgggat tctctcccta ctacagctgg caaagttggt
     3781 ttgcagcaag aagatagtgg gagggggcca ggctgcagga gaaggagaaa agtttagaag
     3841 aaacaaacca ttttgcttct aattttgaca gtatcacttt cctgttaaaa catacaataa
     3901 ttttaaaagg tgaatgccta aagttccaat tttagcaaat atgggaacct cagcaatgct
     3961 aattttctag aaaaacccag ggctctttgg agctagagtt ttgggagaac agttcttcac
     4021 aataaggcaa tggttttgag aggccaggca aataatcttt ctcaccgtag aacaaaaagt
     4081 tacaaaaggc ataatcggaa atagagacta catacttgag tttatggggt ttgtgttgtt
     4141 tgaaggttca atgcttgcat gtgtttattt attttcaaga gggaaagtgg tctgtactgc
     4201 tttcatcctt gccactgtct tgcttttatt ttttactctc ccactgagca agcgtctgtg
     4261 gtcctatggt atcaaccagt atctttatag caataatttc tttaattccc ttttctctct
     4321 ctttccaatt atttaaccag ttacttccac ctggacatac gataggaaat tcaaactcaa
     4381 aatatgaaaa ttgatcttaa taactctccc ttcatatctt ttcacctatt tccagtcctt
     4441 atcatagttg ataaaaacct cagactcatc cagaaagcta tatgatgcac tagtaaaaaa
     4501 aacaaagata ttcaaactgc ttgggttcaa atggtataca atttgccagc tgttactgaa
     4561 ccttctatgc ataacttttt ttttcctctg tgcaattgga ataataaaaa tactactccc
     4621 a
//
LOCUS       NM_001025780            3065 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens abhydrolase domain containing 17B, depalmitoylase
            (ABHD17B), transcript variant 2, mRNA.
ACCESSION   NM_001025780
VERSION     NM_001025780.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3065)
  AUTHORS   Remsberg JR, Suciu RM, Zambetti NA, Hanigan TW, Firestone AJ, Inguva
            A, Long A, Ngo N, Lum KM, Henry CL, Richardson SK, Predovic M, Huang
            B, Dix MM, Howell AR, Niphakis MJ, Shannon K and Cravatt BF.
  TITLE     ABHD17 regulation of plasma membrane palmitoylation and
            N-Ras-dependent cancer growth
  JOURNAL   Nat Chem Biol 17 (8), 856-864 (2021)
   PUBMED   33927411
  REMARK    GeneRIF: ABHD17 regulation of plasma membrane palmitoylation and
            N-Ras-dependent cancer growth.
REFERENCE   2  (bases 1 to 3065)
  AUTHORS   Tortosa E, Adolfs Y, Fukata M, Pasterkamp RJ, Kapitein LC and
            Hoogenraad CC.
  TITLE     Dynamic Palmitoylation Targets MAP6 to the Axon to Promote
            Microtubule Stabilization during Neuronal Polarization
  JOURNAL   Neuron 94 (4), 809-825 (2017)
   PUBMED   28521134
REFERENCE   3  (bases 1 to 3065)
  AUTHORS   Yokoi N, Fukata Y, Sekiya A, Murakami T, Kobayashi K and Fukata M.
  TITLE     Identification of PSD-95 Depalmitoylating Enzymes
  JOURNAL   J Neurosci 36 (24), 6431-6444 (2016)
   PUBMED   27307232
REFERENCE   4  (bases 1 to 3065)
  AUTHORS   Lin DT and Conibear E.
  TITLE     ABHD17 proteins are novel protein depalmitoylases that regulate
            N-Ras palmitate turnover and subcellular localization
  JOURNAL   Elife 4, e11306 (2015)
   PUBMED   26701913
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3065)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   6  (bases 1 to 3065)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC044576.1, GQ900982.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000333421.7/ ENSP00000330222.6
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL138751.18 and AL671309.6.
            On Feb 27, 2020 this sequence version replaced NM_001025780.2.
            Transcript Variant: This variant (2) differs in the 3' UTR and
            coding sequence compared to variant 1. The resulting isoform (2)
            has a shorter and distinct C-terminus compared to isoform 1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3065
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.13"
     gene            1..3065
                     /gene="ABHD17B"
                     /gene_synonym="C9orf77; CGI-67; FAM108B1"
                     /note="abhydrolase domain containing 17B, depalmitoylase"
                     /db_xref="GeneID:51104"
                     /db_xref="HGNC:HGNC:24278"
                     /db_xref="MIM:617943"
     misc_feature    402..404
                     /gene="ABHD17B"
                     /gene_synonym="C9orf77; CGI-67; FAM108B1"
                     /note="upstream in-frame stop codon"
     CDS             564..1430
                     /gene="ABHD17B"
                     /gene_synonym="C9orf77; CGI-67; FAM108B1"
                     /EC_number="3.1.2.22"
                     /note="isoform 2 is encoded by transcript variant 2;
                     abhydrolase domain-containing protein FAM108B1; family with
                     sequence similarity 108, member B1; alpha/beta hydrolase
                     domain-containing protein 17B; abhydrolase
                     domain-containing protein 17B; protein ABHD17B; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="alpha/beta hydrolase domain-containing protein
                     17B isoform 2"
                     /protein_id="NP_001020951.1"
                     /db_xref="CCDS:CCDS35043.1"
                     /db_xref="GeneID:51104"
                     /db_xref="HGNC:HGNC:24278"
                     /db_xref="MIM:617943"
                     /translation="MNNLSFSELCCLFCCPPCPGKIASKLAFLPPDPTYTLMCDESGSR
                     WTLHLSERADWQYSSREKDAIECFMTRTSKGNRIACMFVRCSPNAKYTLLFSHGNAVDL
                     GQMSSFYIGLGSRINCNIFSYDYSGYGASSGKPTEKNLYADIEAAWLALRTRYGIRPEN
                     VIIYGQSIGTVPSVDLAARYESAAVILHSPLTSGMRVAFPDTKKTYCFDAFPNIDKISK
                     ITSPVLIIHGTEDEVIDFSHGLALFERCQRPVEPLWVEGAGHNDVELYGQYLERLKQFV
                     SQELVNL"
     misc_feature    1407..1409
                     /gene="ABHD17B"
                     /gene_synonym="C9orf77; CGI-67; FAM108B1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7M759; propagated from
                     UniProtKB/Swiss-Prot (Q5VST6.1); phosphorylation site"
     regulatory      3041..3046
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABHD17B"
                     /gene_synonym="C9orf77; CGI-67; FAM108B1"
                     /note="hexamer: AGTAAA"
     polyA_site      3065
                     /gene="ABHD17B"
                     /gene_synonym="C9orf77; CGI-67; FAM108B1"
                     /note="major polyA site"
ORIGIN
        1 agtcagtggc caactcctgg ctcagtgggg attgtgctcg tcccctccgt tcccctccag
       61 tcttcctccc gctaccggaa cgagcctcgc gcttggcagg ctgaggagga gcaaagaaag
      121 caggattaaa gagaaggaag acctggctag gtctgggtgg cgtctgcagt gccagaaagg
      181 gaggcggtgg cggcggcggc tgcgaccacg gccgcgcggg acgtgaggcc cgagagcaac
      241 cgacgggcag cggcggccgc tccagcgccc cgcaccgggg ccgttagtca gcagaacgcg
      301 agctcttgtg gaggagcagg gccggcgcga ggcgagactc gggagcgtga gcggggcccc
      361 tggggcgccg ccgtccttct tcgccccggc gccgggggct gtagccctgg tccccgctcc
      421 tctgtcgggc cagtctgcag gcggagagag tcggacggcg cccggagcgc ggatctcgcc
      481 ttgtggagga cagcgcgtcg gctgcggttc tctctcgacc ccttctgccc ggcgcttcgg
      541 cccgggccgc tcaggtgcag agcatgaata atctttcatt tagtgagcta tgttgcctct
      601 tctgctgtcc accttgtcca gggaagattg cttcaaaatt agcgtttttg ccacctgatc
      661 caacttacac actgatgtgt gatgaaagcg gaagccgttg gactttacat ctgtctgaac
      721 gagcagactg gcagtattct tctagagaaa aagatgctat tgagtgtttc atgactagaa
      781 ccagtaaagg caacagaatt gcttgtatgt ttgtacgttg ttcacccaat gcgaaataca
      841 ctttactctt ctcacatgga aatgctgttg atcttggtca aatgagcagc ttttacatag
      901 gactaggatc acggattaat tgtaatatat tctcatatga ttattctgga tatggtgcca
      961 gttccgggaa acccacagag aagaacctct atgcagacat tgaagctgct tggcttgctc
     1021 ttaggacaag atatggcatt cgccctgaaa atgtgattat atatggccaa agtataggga
     1081 cagtaccgtc tgtggatctt gctgctcgat atgagagtgc tgctgttatt cttcattctc
     1141 ctctgacttc gggaatgcga gttgcctttc ctgataccaa gaagacctac tgttttgatg
     1201 cattcccaaa cattgacaaa atctctaaga taacctctcc agtattaata attcatggga
     1261 ctgaagatga agtcattgac ttttcacatg gcctcgcatt gtttgaacgt tgccaaagac
     1321 ctgtggagcc tctctgggtt gaaggagcag gtcacaatga tgtggaactt tatggacagt
     1381 atcttgaaag gttgaaacag tttgtgtcac aggaactggt aaatttgtaa aatattctgt
     1441 aaatttgcta ctgggttttc ctttcttgct gaactgcact ctttggtaaa taacataaaa
     1501 cctgaaggtt ttgtttgcaa atcatgtcag ttgccttcat aaatgtacag gtaatgattt
     1561 gttaacagac ttaatgaagg ttttaattac cagaactaaa aactggaaat aacagtaccg
     1621 tgcagtcagg ctgtgtaatt tatatttttt ctgtgaattt ttttttaaca tcaagatgag
     1681 tactgtatga gattttaatt ctataaaatc aaatgctgta aaagtattgc caaatgcttt
     1741 tgcatactag aaacaaattt ataaatattt ttaaaacatc tcaatatatt aaatcttatc
     1801 ctggaataca actgtaatat tttgaaaaaa gctatgtatc taaagcaatt taagtactca
     1861 taatggaatg aactgtaaaa gagatttaaa accatgcaag ttcactagaa ttaacctaaa
     1921 ccctgttgta cagggataga ggtttaaagt tattttattg taaaatacat tgaattttct
     1981 gtatactctg attacataca tttatccttt aaaaaagatg taaatcttaa tttttatgcc
     2041 atctattaat ttaccaatga gttaccttgt aaatgagaag tcatgatagc actgaatttt
     2101 aactagtttt gacttctaag tttggtactg tgaggcaagt acttaaaatt ttcatgctgg
     2161 ttacttaaaa ggcatttaga gatttcaaga atgattttgt atacgatgtt ttaaattttg
     2221 actgatctca tagtcttcat agaattgcag tagtcttcat tgtatgaaat cccgaaagtc
     2281 catgagttga tcttaaagac cactaacaga ctggctatca gatccctttt cactttggct
     2341 atttttttca ttttttgaga tggagtcttg ctgtgtcact gaggctggag tgcagtggcg
     2401 cgatcttgat tcactgcaac ctctgcctcc cgggatcaag tgattctcct gcctcagcct
     2461 cctgagtagc tggtattaca gatgcttgcc accacgcctg gctaattttt gtatttttag
     2521 tagagacagg gttttgccat gttgatcagg ctggtcttga actcctgacc tcatgatctg
     2581 cccttggcct cccaaagtgt cggaattaca ggcatgagcc actgcgcctg gcccacttta
     2641 gctattttta aaaataggac ctattgtttt ggattactat ctgagaattt catggattca
     2701 ctcctgggta taggagataa gaatacgttt aattcataac ttttatatta accaatatag
     2761 taaaaaaata aagctcacac atacaaaaac taagttgcct ttccttgaat gaaccctgtc
     2821 tgaataaaac aatgaaaaat aaaaataaaa ttaatggtat gtagtctaat ttgtaaatga
     2881 atgaatatgg aaataataca cactgtggat atattttaag gccttatgta gttttaattg
     2941 ttctgctcgt tccgtggtta tgtttaagac tatagtatat gactctcttc aaagtatatc
     3001 aagtattgtg aatgctttgg ttcagatgtg tcaaattaac agtaaaacaa caaatatacc
     3061 actga
//
LOCUS       NM_001028                483 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S25 (RPS25), mRNA.
ACCESSION   NM_001028
VERSION     NM_001028.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 483)
  AUTHORS   Johnson AG, Flynn RA, Lapointe CP, Ooi YS, Zhao ML, Richards CM,
            Qiao W, Yamada SB, Couthouis J, Gitler AD, Carette JE and Puglisi
            JD.
  TITLE     A memory of eS25 loss drives resistance phenotypes
  JOURNAL   Nucleic Acids Res 48 (13), 7279-7297 (2020)
   PUBMED   32463448
  REMARK    GeneRIF: A memory of eS25 loss drives resistance phenotypes.
REFERENCE   2  (bases 1 to 483)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 483)
  AUTHORS   Yamada SB, Gendron TF, Niccoli T, Genuth NR, Grosely R, Shi Y,
            Glaria I, Kramer NJ, Nakayama L, Fang S, Dinger TJI, Thoeng A, Rocha
            G, Barna M, Puglisi JD, Partridge L, Ichida JK, Isaacs AM,
            Petrucelli L and Gitler AD.
  TITLE     RPS25 is required for efficient RAN translation of C9orf72 and other
            neurodegenerative disease-associated nucleotide repeats
  JOURNAL   Nat Neurosci 22 (9), 1383-1388 (2019)
   PUBMED   31358992
  REMARK    GeneRIF: We performed a genetic screen for regulators of RAN
            translation and identified small ribosomal protein subunit 25
            (RPS25), presenting a potential therapeutic target for
            C9orf72-related amyotrophic lateral sclerosis and frontotemporal
            dementia and other neurodegenerative diseases caused by nucleotide
            repeat expansions.
REFERENCE   4  (bases 1 to 483)
  AUTHORS   Terol M, Gazon H, Lemasson I, Duc-Dodon M, Barbeau B, Cesaire R,
            Mesnard JM and Peloponese JM Jr.
  TITLE     HBZ-mediated shift of JunD from growth suppressor to tumor promoter
            in leukemic cells by inhibition of ribosomal protein S25 expression
  JOURNAL   Leukemia 31 (10), 2235-2243 (2017)
   PUBMED   28260789
  REMARK    GeneRIF: HBZ induces nuclear retention of RPS25 mRNA in the nucleus
            and loss of RPS25 protein expression. Inhibition of RPS25 expression
            stimulates Delta JunD synthesis.
REFERENCE   5  (bases 1 to 483)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   6  (bases 1 to 483)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   7  (bases 1 to 483)
  AUTHORS   Imai T, Sudo K and Miwa T.
  TITLE     Assignment of the human ribosomal protein S25 gene (RPS25) to
            chromosome 11q23.3 by sequence analysis of the marker D11S456
  JOURNAL   Genomics 20 (1), 142-143 (1994)
   PUBMED   8020948
REFERENCE   8  (bases 1 to 483)
  AUTHORS   Li M and Center MS.
  TITLE     Regulation of ribosomal protein S25 in HL60 cells isolated for
            resistance to adriamycin
  JOURNAL   FEBS Lett 298 (2-3), 142-144 (1992)
   PUBMED   1544436
REFERENCE   9  (bases 1 to 483)
  AUTHORS   Li ML, Latoud C and Center MS.
  TITLE     Cloning and sequencing a cDNA encoding human ribosomal protein S25
  JOURNAL   Gene 107 (2), 329-333 (1991)
   PUBMED   1748303
REFERENCE   10  (bases 1 to 483)
  AUTHORS   Marion MJ and Marion C.
  TITLE     Ribosomal proteins S2, S6, S10, S14, S15 and S25 are localized on
            the surface of mammalian 40 S subunits and stabilize their
            conformation. A study with immobilized trypsin
  JOURNAL   FEBS Lett 232 (2), 281-285 (1988)
   PUBMED   3378620
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.124115.1,
            SRR1163657.237885.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000527673.2/ ENSP00000435096.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from D28369.1 and BC004986.1.
            On Nov 23, 2018 this sequence version replaced NM_001028.2.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S25E family of ribosomal proteins. It is located in the
            cytoplasm. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..483
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..483
                     /gene="RPS25"
                     /gene_synonym="eS25; S25"
                     /note="ribosomal protein S25"
                     /db_xref="GeneID:6230"
                     /db_xref="HGNC:HGNC:10413"
                     /db_xref="MIM:180465"
     misc_feature    18..20
                     /gene="RPS25"
                     /gene_synonym="eS25; S25"
                     /note="upstream in-frame stop codon"
     CDS             60..437
                     /gene="RPS25"
                     /gene_synonym="eS25; S25"
                     /note="40S ribosomal protein S25"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS25"
                     /protein_id="NP_001019.1"
                     /db_xref="CCDS:CCDS8406.1"
                     /db_xref="GeneID:6230"
                     /db_xref="HGNC:HGNC:10413"
                     /db_xref="MIM:180465"
                     /translation="MPPKDDKKKKDAGKSAKKDKDPVNKSGGKAKKKKWSKGKVRDKLN
                     NLVLFDKATYDKLCKEVPNYKLITPAVVSERLKIRGSLARAALQELLSKGLIKLVSKHR
                     AQVIYTRNTKGGDAPAAGEDA"
     misc_feature    60..173
                     /gene="RPS25"
                     /gene_synonym="eS25; S25"
                     /note="propagated from UniProtKB/Swiss-Prot (P62851.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    186..188
                     /gene="RPS25"
                     /gene_synonym="eS25; S25"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P62852; propagated from
                     UniProtKB/Swiss-Prot (P62851.1); acetylation site"
     misc_feature    213..215
                     /gene="RPS25"
                     /gene_synonym="eS25; S25"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62851.1); acetylation site"
     misc_feature    237..239
                     /gene="RPS25"
                     /gene_synonym="eS25; S25"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62851.1); acetylation site"
     misc_feature    255..257
                     /gene="RPS25"
                     /gene_synonym="eS25; S25"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62851.1); acetylation site"
     misc_feature    339..341
                     /gene="RPS25"
                     /gene_synonym="eS25; S25"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62851.1); acetylation site"
     regulatory      467..472
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS25"
                     /gene_synonym="eS25; S25"
                     /note="hexamer: AATAAA"
     polyA_site      483
                     /gene="RPS25"
                     /gene_synonym="eS25; S25"
                     /note="major polyA site"
ORIGIN
        1 ctttttgtcc gacatcttga cgaggctgcg gtgtctgctg ctattctccg agcttcgcaa
       61 tgccgcctaa ggacgacaag aagaagaagg acgctggaaa gtcggccaag aaagacaaag
      121 acccagtgaa caaatccggg ggcaaggcca aaaagaagaa gtggtccaaa ggcaaagttc
      181 gggacaagct caataactta gtcttgtttg acaaagctac ctatgataaa ctctgtaagg
      241 aagttcccaa ctataaactt ataaccccag ctgtggtctc tgagagactg aagattcgag
      301 gctccctggc cagggcagcc cttcaggagc tccttagtaa aggacttatc aaactggttt
      361 caaagcacag agctcaagta atttacacca gaaataccaa gggtggagat gctccagctg
      421 ctggtgaaga tgcatgaata ggtccaacca gctgtacatt tggaaaaata aaactttatt
      481 aaa
//
LOCUS       NM_001029               1140 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens ribosomal protein S26 (RPS26), mRNA.
ACCESSION   NM_001029
VERSION     NM_001029.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1140)
  AUTHORS   Li J, Su Y, Chen L, Lin Y and Ru K.
  TITLE     Identification of novel mutations in patients with Diamond-Blackfan
            anemia and literature review of RPS10 and RPS26 mutations
  JOURNAL   Int J Lab Hematol 45 (5), 766-773 (2023)
   PUBMED   37376976
  REMARK    GeneRIF: Identification of novel mutations in patients with
            Diamond-Blackfan anemia and literature review of RPS10 and RPS26
            mutations. Review article
REFERENCE   2  (bases 1 to 1140)
  AUTHORS   Bulygin KN, Malygin AA, Graifer DM and Karpova GG.
  TITLE     The functional role of the eukaryote-specific motif YxxPKxYxK of the
            human ribosomal protein eS26 in translation
  JOURNAL   Biochim Biophys Acta Gene Regul Mech 1865 (6), 194842 (2022)
   PUBMED   35817369
  REMARK    GeneRIF: The functional role of the eukaryote-specific motif
            YxxPKxYxK of the human ribosomal protein eS26 in translation.
REFERENCE   3  (bases 1 to 1140)
  AUTHORS   Sun Q, Gao Y, Yang J, Lu J, Feng W and Yang W.
  TITLE     Mendelian Randomization Analysis Identified Potential Genes
            Pleiotropically Associated with Polycystic Ovary Syndrome
  JOURNAL   Reprod Sci 29 (3), 1028-1037 (2022)
   PUBMED   34704236
  REMARK    GeneRIF: Mendelian Randomization Analysis Identified Potential Genes
            Pleiotropically Associated with Polycystic Ovary Syndrome.
REFERENCE   4  (bases 1 to 1140)
  AUTHORS   Plassart L, Shayan R, Montellese C, Rinaldi D, Larburu N, Pichereaux
            C, Froment C, Lebaron S, O'Donohue MF, Kutay U, Marcoux J, Gleizes
            PE and Plisson-Chastang C.
  TITLE     The final step of 40S ribosomal subunit maturation is controlled by
            a dual key lock
  JOURNAL   Elife 10, e61254 (2021)
   PUBMED   33908345
  REMARK    GeneRIF: The final step of 40S ribosomal subunit maturation is
            controlled by a dual key lock. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1140)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1140)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   7  (bases 1 to 1140)
  AUTHORS   Filipenko,M.L., Mishin,V.P., Suturina,Iu.A., Muravlev,A.I.,
            Kopantsev,E.A., Karpova,G.G. and Mertvetsov,N.P.
  TITLE     [Mapping of the genes for ribosomal proteins S26, L19, and L32 on
            human chromosomes]
  JOURNAL   Bioorg Khim 21 (11), 838-844 (1995)
   PUBMED   8670309
REFERENCE   8  (bases 1 to 1140)
  AUTHORS   Filipenko,M.L., Vladimirov,S.N., Muravlev,A.I., Karpova,G.G. and
            Mertvetsov,N.P.
  TITLE     [Cloning cDNA of human S26 ribosomal protein and determination of
            its primary structure]
  JOURNAL   Bioorg Khim 20 (6), 644-649 (1994)
   PUBMED   7945460
REFERENCE   9  (bases 1 to 1140)
  AUTHORS   Vincent S, Marty L and Fort P.
  TITLE     S26 ribosomal protein RNA: an invariant control for gene regulation
            experiments in eucaryotic cells and tissues
  JOURNAL   Nucleic Acids Res 21 (6), 1498 (1993)
   PUBMED   8464749
REFERENCE   10  (bases 1 to 1140)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301769
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CD248987.1, BG500507.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000646449.2/ ENSP00000496643.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AV681946.1, BC002604.1, CF129685.1 and AC034102.32.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2018 this sequence version replaced NM_001029.4.
            Summary: This gene encodes a ribosomal protein that is a component
            of the 40S subunit. The protein belongs to the S26E family of
            ribosomal proteins. Mutations in this gene are found in
            Diamond-Blackfan anemia 10. There are multiple processed
            pseudogenes of this gene dispersed through the genome. [provided by
            RefSeq, Aug 2017].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1140
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..1140
                     /gene="RPS26"
                     /gene_synonym="DBA10; eS26; S26"
                     /note="ribosomal protein S26"
                     /db_xref="GeneID:6231"
                     /db_xref="HGNC:HGNC:10414"
                     /db_xref="MIM:603701"
     misc_feature    199..201
                     /gene="RPS26"
                     /gene_synonym="DBA10; eS26; S26"
                     /note="upstream in-frame stop codon"
     CDS             250..597
                     /gene="RPS26"
                     /gene_synonym="DBA10; eS26; S26"
                     /note="40S ribosomal protein S26"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS26"
                     /protein_id="NP_001020.2"
                     /db_xref="CCDS:CCDS31832.1"
                     /db_xref="GeneID:6231"
                     /db_xref="HGNC:HGNC:10414"
                     /db_xref="MIM:603701"
                     /translation="MTKKRRNNGRAKKGRGHVQPIRCTNCARCVPKDKAIKKFVIRNIV
                     EAAAVRDISEASVFDAYVLPKLYVKLHYCVSCAIHSKVVRNRSREARKDRTPPPRFRPA
                     GAAPRPPPKPM"
     misc_feature    409..411
                     /gene="RPS26"
                     /gene_synonym="DBA10; eS26; S26"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P62854.3); phosphorylation site"
     misc_feature    502..594
                     /gene="RPS26"
                     /gene_synonym="DBA10; eS26; S26"
                     /note="propagated from UniProtKB/Swiss-Prot (P62854.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      644..649
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS26"
                     /gene_synonym="DBA10; eS26; S26"
                     /note="hexamer: AATAAA"
     polyA_site      673
                     /gene="RPS26"
                     /gene_synonym="DBA10; eS26; S26"
                     /note="major polyA site"
     regulatory      1097..1102
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS26"
                     /gene_synonym="DBA10; eS26; S26"
                     /note="hexamer: ATTAAA"
     polyA_site      1119
                     /gene="RPS26"
                     /gene_synonym="DBA10; eS26; S26"
                     /note="major polyA site"
ORIGIN
        1 gattttcttc cgccatccgg ctaaatagtc ccatgtgcac tttgttccat ggataaataa
       61 acactaggaa cgcatttcca ccctagattt cagcagaaat gctgaatgta aaggaatatt
      121 tgagtaaagt gagttgccgt tcttgaagcc cgtctcctaa ggattctccc ggtgtccgcg
      181 tagggatctc atgctatata ggagggccct gccaggcacc gtctcctctc tccggtccgt
      241 gcctccaaga tgacaaagaa aagaaggaac aatggtcgtg ccaaaaaggg ccgcggccac
      301 gtgcagccta ttcgctgcac taactgtgcc cgatgcgtgc ccaaggacaa ggccattaag
      361 aaattcgtca ttcgaaacat agtggaggcc gcagcagtca gggacatttc tgaagcgagc
      421 gtcttcgatg cctatgtgct tcccaagctg tatgtgaagc tacattactg tgtgagttgt
      481 gcaattcaca gcaaagtagt caggaatcga tctcgtgaag cccgcaagga ccgaacaccc
      541 ccaccccgat ttagacctgc gggtgctgcc ccacgtcccc caccaaagcc catgtaagga
      601 gctgagttct taaagactga agacaggcta ttctctggag aaaaataaaa tggaaattgt
      661 acttaatatt gcatgttaag tgtatctgtg ccagataagg tggggatttt gtgtgttaga
      721 ccaagtgtga agtgacacac attattttca tggggaagaa agcttattca tgtaatttaa
      781 tttttttctt tttttttttt ttttttttga gacggagtct ttgtcgccca agctgaattg
      841 cagtggcgtg atctcagctc actgcaacct ccgtctcccg ggttcaagtg attctcctgc
      901 ctcagcttct tgagtagctg ggattacagg tgtctgccac catgcctggt taatttttgt
      961 atttttggta gagatggggt ttcactatgt tgtccaggct ggtcttgaac ttctgacctc
     1021 agttaatcca ccagccttgg cctcccaaag tgctgggatt acaggcttga gccacctcgc
     1081 ctagctattt atgtaaatta aactttaatt gtggtcgtat ggttggcctc acaattcgca
//
LOCUS       NM_001029858            5109 bp    mRNA    linear   PRI 16-JUN-2023
DEFINITION  Homo sapiens solute carrier family 35 member F1 (SLC35F1),
            transcript variant 1, mRNA.
ACCESSION   NM_001029858
VERSION     NM_001029858.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5109)
  AUTHORS   Thibord F, Chan MV, Chen MH and Johnson AD.
  TITLE     A year of COVID-19 GWAS results from the GRASP portal reveals
            potential genetic risk factors
  JOURNAL   HGG Adv 3 (2), 100095 (2022)
   PUBMED   35224516
REFERENCE   2  (bases 1 to 5109)
  AUTHORS   Qian C, Wu Z, Sun R, Yu H, Zeng J, Rao Y and Li Y.
  TITLE     Localization, proteomics, and metabolite profiling reveal a putative
            vesicular transporter for UDP-glucose
  JOURNAL   Elife 10, e65417 (2021)
   PUBMED   34269178
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5109)
  AUTHORS   Di Fede E, Peron A, Colombo EA, Gervasini C and Vignoli A.
  TITLE     SLC35F1 as a candidate gene for neurodevelopmental disorders
            resembling Rett syndrome
  JOURNAL   Am J Med Genet A 185 (7), 2238-2240 (2021)
   PUBMED   33821533
  REMARK    GeneRIF: SLC35F1 as a candidate gene for neurodevelopmental
            disorders resembling Rett syndrome.
REFERENCE   4  (bases 1 to 5109)
  AUTHORS   Shelton JF, Shastri AJ, Ye C, Weldon CH, Filshtein-Sonmez T, Coker
            D, Symons A, Esparza-Gordillo J, Aslibekyan S and Auton A.
  CONSRTM   23andMe COVID-19 Team
  TITLE     Trans-ancestry analysis reveals genetic and nongenetic associations
            with COVID-19 susceptibility and severity
  JOURNAL   Nat Genet 53 (6), 801-808 (2021)
   PUBMED   33888907
REFERENCE   5  (bases 1 to 5109)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 5109)
  AUTHORS   Eijgelsheim M, Newton-Cheh C, Sotoodehnia N, de Bakker PI, Muller M,
            Morrison AC, Smith AV, Isaacs A, Sanna S, Dorr M, Navarro P,
            Fuchsberger C, Nolte IM, de Geus EJ, Estrada K, Hwang SJ, Bis JC,
            Ruckert IM, Alonso A, Launer LJ, Hottenga JJ, Rivadeneira F,
            Noseworthy PA, Rice KM, Perz S, Arking DE, Spector TD, Kors JA,
            Aulchenko YS, Tarasov KV, Homuth G, Wild SH, Marroni F, Gieger C,
            Licht CM, Prineas RJ, Hofman A, Rotter JI, Hicks AA, Ernst F, Najjar
            SS, Wright AF, Peters A, Fox ER, Oostra BA, Kroemer HK, Couper D,
            Volzke H, Campbell H, Meitinger T, Uda M, Witteman JC, Psaty BM,
            Wichmann HE, Harris TB, Kaab S, Siscovick DS, Jamshidi Y,
            Uitterlinden AG, Folsom AR, Larson MG, Wilson JF, Penninx BW,
            Snieder H, Pramstaller PP, van Duijn CM, Lakatta EG, Felix SB,
            Gudnason V, Pfeufer A, Heckbert SR, Stricker BH, Boerwinkle E and
            O'Donnell CJ.
  TITLE     Genome-wide association analysis identifies multiple loci related to
            resting heart rate
  JOURNAL   Hum Mol Genet 19 (19), 3885-3894 (2010)
   PUBMED   20639392
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   7  (bases 1 to 5109)
  AUTHORS   Karasik D, Hsu YH, Zhou Y, Cupples LA, Kiel DP and Demissie S.
  TITLE     Genome-wide pleiotropy of osteoporosis-related phenotypes: the
            Framingham Study
  JOURNAL   J Bone Miner Res 25 (7), 1555-1563 (2010)
   PUBMED   20200953
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 5109)
  AUTHORS   Nolte IM, Wallace C, Newhouse SJ, Waggott D, Fu J, Soranzo N,
            Gwilliam R, Deloukas P, Savelieva I, Zheng D, Dalageorgou C, Farrall
            M, Samani NJ, Connell J, Brown M, Dominiczak A, Lathrop M, Zeggini
            E, Wain LV, Newton-Cheh C, Eijgelsheim M, Rice K, de Bakker PI,
            Pfeufer A, Sanna S, Arking DE, Asselbergs FW, Spector TD, Carter ND,
            Jeffery S, Tobin M, Caulfield M, Snieder H, Paterson AD, Munroe PB
            and Jamshidi Y.
  CONSRTM   Wellcome Trust Case Control Consortium; DCCT/EDIC Research Group;
            QTGEN consortium; QTSCD consortium
  TITLE     Common genetic variation near the phospholamban gene is associated
            with cardiac repolarisation: meta-analysis of three genome-wide
            association studies
  JOURNAL   PLoS One 4 (7), e6138 (2009)
   PUBMED   19587794
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 5109)
  AUTHORS   Vasan RS, Glazer NL, Felix JF, Lieb W, Wild PS, Felix SB, Watzinger
            N, Larson MG, Smith NL, Dehghan A, Grosshennig A, Schillert A,
            Teumer A, Schmidt R, Kathiresan S, Lumley T, Aulchenko YS, Konig IR,
            Zeller T, Homuth G, Struchalin M, Aragam J, Bis JC, Rivadeneira F,
            Erdmann J, Schnabel RB, Dorr M, Zweiker R, Lind L, Rodeheffer RJ,
            Greiser KH, Levy D, Haritunians T, Deckers JW, Stritzke J, Lackner
            KJ, Volker U, Ingelsson E, Kullo I, Haerting J, O'Donnell CJ,
            Heckbert SR, Stricker BH, Ziegler A, Reffelmann T, Redfield MM,
            Werdan K, Mitchell GF, Rice K, Arnett DK, Hofman A, Gottdiener JS,
            Uitterlinden AG, Meitinger T, Blettner M, Friedrich N, Wang TJ,
            Psaty BM, van Duijn CM, Wichmann HE, Munzel TF, Kroemer HK, Benjamin
            EJ, Rotter JI, Witteman JC, Schunkert H, Schmidt H, Volzke H and
            Blankenberg S.
  TITLE     Genetic variants associated with cardiac structure and function: a
            meta-analysis and replication of genome-wide association data
  JOURNAL   JAMA 302 (2), 168-178 (2009)
   PUBMED   19584346
  REMARK    GeneRIF: Meta-analysis and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   10  (bases 1 to 5109)
  AUTHORS   Newton-Cheh C, Eijgelsheim M, Rice KM, de Bakker PI, Yin X, Estrada
            K, Bis JC, Marciante K, Rivadeneira F, Noseworthy PA, Sotoodehnia N,
            Smith NL, Rotter JI, Kors JA, Witteman JC, Hofman A, Heckbert SR,
            O'Donnell CJ, Uitterlinden AG, Psaty BM, Lumley T, Larson MG and
            Stricker BH.
  TITLE     Common variants at ten loci influence QT interval duration in the
            QTGEN Study
  JOURNAL   Nat Genet 41 (4), 399-406 (2009)
   PUBMED   19305408
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC028615.1, SRR1803612.90006.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145240,
            SAMEA2145313 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
            variant(s)
            MANE Ensembl match          :: ENST00000360388.9/ ENSP00000353557.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL136478.9, Z95326.1, AL449196.1 and AL133379.3.
            On Nov 22, 2018 this sequence version replaced NM_001029858.3.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5109
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.2-q22.31"
     gene            1..5109
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /note="solute carrier family 35 member F1"
                     /db_xref="GeneID:222553"
                     /db_xref="HGNC:HGNC:21483"
                     /db_xref="MIM:620349"
     misc_feature    278..280
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /note="upstream in-frame stop codon"
     CDS             464..1690
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /codon_start=1
                     /product="solute carrier family 35 member F1"
                     /protein_id="NP_001025029.2"
                     /db_xref="CCDS:CCDS34524.1"
                     /db_xref="GeneID:222553"
                     /db_xref="HGNC:HGNC:21483"
                     /db_xref="MIM:620349"
                     /translation="MIPPEQPQQQLQPPSPAPPNHVVTTIENLPAEGSGGGGSLSASSR
                     AGVRQRIRKVLNREMLISVALGQVLSLLICGIGLTSKYLSEDFHANTPVFQSFLNYILL
                     FLVYTTTLAVRQGEENLLAILRRRWWKYMILGLIDLEANYLVVKAYQYTTLTSIQLLDC
                     FVIPVVILLSWFFLLIRYKAVHFIGIVVCILGMGCMVGADVLVGRHQGAGENKLVGDLL
                     VLGGATLYGISNVWEEYIIRTLSRVEFLGMIGLFGAFFSGIQLAIMEHKELLKVPWDWQ
                     IGLLYVGFSACMFGLYSFMPVVIKKTSATSVNLSLLTADLYSLFCGLFLFHYKFSGLYL
                     LSFFTILIGLVLYSSTSTYIAQDPRVYKQFRNPSGPVVDLPTTAQVEPSVTYTSLGQET
                     EEEPHVRVA"
     misc_feature    464..526
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1Q4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    641..703
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1Q4.2);
                     transmembrane region"
     misc_feature    743..805
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1Q4.2);
                     transmembrane region"
     misc_feature    848..904
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1Q4.2);
                     transmembrane region"
     misc_feature    935..997
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1Q4.2);
                     transmembrane region"
     misc_feature    1019..1081
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1Q4.2);
                     transmembrane region"
     misc_feature    1124..1186
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1Q4.2);
                     transmembrane region"
     misc_feature    1202..1264
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1Q4.2);
                     transmembrane region"
     misc_feature    1313..1375
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1Q4.2);
                     transmembrane region"
     misc_feature    1394..1456
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1Q4.2);
                     transmembrane region"
     misc_feature    1466..1528
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1Q4.2);
                     transmembrane region"
     regulatory      5089..5094
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /note="hexamer: AATAAA"
     polyA_site      5090
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /note="major polyA site"
     polyA_site      5109
                     /gene="SLC35F1"
                     /gene_synonym="C6orf169; dJ230I3.1"
                     /note="major polyA site"
ORIGIN
        1 acagacggta gctttccgac cgagcggggc acaggctgag gcggcgccag cacaactgcc
       61 gccgcgcgcc ccgaggagac ccgggcacga ggaaacaagg agaaatcagg actccttccc
      121 cggaaccgac cggcagctcc gcgcccccgc gcgacaccct tcgcagccac ttcgcggggc
      181 gggccaggac ttggggacgc ggctcgggaa gagccggggc gggcggcggc ggcggcggca
      241 cgggcgcgag ggtgcgcgca ctgggactgg agaggagtga gtggcgggct gggcggcggc
      301 ggccgtagcc gcgggtgcct ccccgcctca ccgcttcgca ggcagcaccg cctcccgggc
      361 cgcggccgcc cggccgggtc ctctgcgcgt tcccgggccc ggaaccggca cacgatgcac
      421 ccggctgcgt tctgatcgcc gccgcgcctc agcctctgcc gcgatgatcc cccctgagca
      481 gccgcagcag cagctgcagc cgccgtcgcc agccccgccg aaccatgtgg tgaccaccat
      541 cgagaacctg ccggccgagg gcagcggcgg cggcgggagc ctgtccgcct cctcccgggc
      601 tggcgtgcgc cagaggatcc gcaaagtgct gaacagggag atgttaatct ctgtggccct
      661 aggccaggtg ttatccctcc ttatttgtgg aattggcttg actagcaagt atctgtcaga
      721 agatttccac gccaacacac cagtcttcca gagtttcctc aattacattc ttctcttctt
      781 ggtctatacc accacactag ccgtcagaca aggagaagaa aacctcctgg caattttacg
      841 acgaagatgg tggaagtaca tgattttggg actcatagac ctggaagcaa attatctggt
      901 ggtcaaggct taccaataca caactctgac cagtatccag ctcctggact gttttgtgat
      961 cccagtcgtg attttgctct cctggttctt cctgctgatc cggtacaagg ctgtgcattt
     1021 catcggcatc gttgtctgca tcctgggaat gggctgcatg gtgggagcag atgtgcttgt
     1081 gggaagacat cagggagcag gggaaaataa gctggtaggg gaccttctgg tcttaggagg
     1141 agccacactc tatggtattt ctaacgtctg ggaagaatac atcatccgaa ctctgagccg
     1201 agtggaattc ctgggaatga ttggtctctt tggagcattt ttcagtggaa ttcaattagc
     1261 tataatggag cataaggaac tgttgaaggt gccctgggac tggcaaatag gactgctcta
     1321 cgttggcttt agtgcctgca tgtttggtct ctacagcttt atgccagtcg tcataaagaa
     1381 aaccagtgcc acttcagtca acctctcctt gctcacagca gacttgtaca gcctgttctg
     1441 tggattgttt ctcttccact acaagttttc aggactttat ctcctgtctt tcttcaccat
     1501 cctcattggg ctggtgctct actcctccac ctccacctac atagcccagg acccccgagt
     1561 gtataagcag ttccgcaatc cttcaggacc tgttgtggac ttaccgacca cagctcaggt
     1621 ggaaccctca gtcacctaca ccagcctggg ccaggagacc gaagaggagc ctcatgttcg
     1681 tgtggcctag ggtgaggccc gccctgccaa ctgaggccaa ctcattggcc atgtttttgc
     1741 ccatcatctc tgtattgtac atagagaaag gtatttacta ggtgcagttt acacaggtgg
     1801 actgcaaggt agcaaatcct ccaaaagctt gtgaaaggaa caagctcaac atcactggag
     1861 acacaggctc taatccacct gacttggaag gatgcctagc taacgtgtat cctgatcaca
     1921 actcccctgc attcattact gtgaaaattt ttgaatcaaa agcaagtatt attgttatta
     1981 tgatttgtat tattattatt gctgttactg ttattacacc aactttcagg aggatgtttt
     2041 gtactcctga tggaaactat tgccagaccc acatgtagtc aacataaacc ccacttttct
     2101 atggcaattc actttttaag agtcatactt tatttttttg cacagactat atgagtgatg
     2161 catgccacag gagctccacc cctgagaagt ttccttttcc tagggacctg gtggttaatg
     2221 gtttcctctg ttacctgttg gattgcctgc tcaataagta ttttgtgctg tgacctttgt
     2281 ggggaggggc aactgaccat atacttctct attctaggaa tagatataaa agaaacattt
     2341 tagccttttt atatttcgat ctctgattac tccaggccat tgcctttctg ttgtgccacg
     2401 tgattctgct aatcaagtcc ctgtaataac aggataagga ctgttccatt actgtggctt
     2461 ttgggagccc ccagaaataa tatcatttgt gtttaggaca atatataatt ataaaatctt
     2521 tctgctcctc cctgtagcct ctcttcaaaa actatctttt attttttttc cagatttcct
     2581 tagtgataat atggaaatta atcaaggcac tggaaaaagc catggtcctc tgccctttta
     2641 attctgtgac acctttttaa aaatacacca gcatggaaat tacctttatt gtggaaaatc
     2701 attggttgtg ccacctccta acaaagtcaa ggtgctgatg tggagcagtc tttgaaaatg
     2761 gcttaattga tttggccact ttgcagtggt aacaatgtca tcattgaaaa agtctggcat
     2821 tttggtcata tttggcatcc attcaataac agatatattg acacgacatt cttttttttt
     2881 tttttttttt tttttgagac ggagtctcac tctgtcgccc aggctggagt gcggtggcac
     2941 gatctcagct cactgcaacc tccgcctccg ggattcacac cattctcctg cctcagcctc
     3001 ccgagtagct gggactacag gcacctgcca cgacgcccag ctaatttttt gtatttttag
     3061 tagagatggg gtttcaccgt gttagccagg atggtctcga tctcctgacc tcgtgatccg
     3121 cccaccttgg cctcccgaag tgctgggatt acaggcgtga gccactgcgc ccggccgaca
     3181 cgacattctt atggacccag agaatactgc aggatcctga taagaccttg agtgatatgt
     3241 cactagtcta atctgttgcc cttaaaatag cccttttttc aaacacagga aattaagaaa
     3301 caccacagac ctctattatt tagaatagat tctatgtgtc agtatgtgat gtactctttt
     3361 agtttgactg acttcaatac cattcaaaaa gatcctcaat ggagttacag ggtttatagg
     3421 ggaaaaatac atgtttatga gacattgggc aattcaaatc aacatgtgtt acataagcaa
     3481 gcaaagcaaa acaccagtgg ggtctctgga aagtaaaagg acagactaca gtagaaggac
     3541 tgatcccaga gtgcctgtac aaggcctaaa tctggcaggc aaaagcatcc cacactgtct
     3601 gtcagcaccc acatggcctt tttgcctgcc ttctataacg ggtaagtgga cctacccttg
     3661 gagatagaga agaaaaatta tcttctctga tattcggatg taatggtcat ctcagttcag
     3721 ccccctagga aacatgtttt attttccatg gggaaaatat cagcgttaaa gctctatcaa
     3781 atcaaaacaa ctttgccaac atcttctctc tgctaccttt taaaccaatt aaataccttt
     3841 ctctgaatat tttgtccatt cagatccgaa gacctttaaa gactgtggtt ttatttttgt
     3901 gtttacattc ctttggtttg aataatttgc ttgatttatt gcatttttag tatttatttt
     3961 aagccagatg ttttcatctt tgattcattt ttatgacatt aatttgtaga cacttagtaa
     4021 agtcttatga gaagcaagtg gatgaaatta tctccaagtc cactcagtag actggagttt
     4081 tttaaaaata taaatttcca aaaagtttgc aatcaacaga tggctaaagg ttgccatctg
     4141 aattatttta taggatattt taattgactc cattgtatgg aaaccaagtg tgaatgttaa
     4201 gatgaatttg ccgtataccc tttatcattc ggtgtccttg tactcagact ttcatgtccc
     4261 tgggtgacct caatgtgttg gtttgtctcc atttagaaag gttgataata tattgaattg
     4321 ttcaagatca ggagttccag actgaccctc caggaaaaaa aaaatcgcaa agaacaaatt
     4381 ctttttctgt gtaaaaaaca ctgatccttt gggaatgggg cgggaaatgg gagtaggaca
     4441 acattaactt tagctgtttt agtttctgag atttcataac ctcagtagac accagcaaaa
     4501 ttttcagttt ctaactccac caccaatctc tcctcaatga ataagacttt agcaatttat
     4561 atagaatttg atcaggtaag agcgaaccac aattctcctg aaccctgcta gagattaagt
     4621 ggtggttctc acttcctcaa tgaaaacttg cactggggac agcgcttgcc ttggtcagac
     4681 cttcccacat ctacatactc tcaaatacat gaccaggtga tcaagcaatg gaaaaatttg
     4741 caccaccgtg tcccatgaaa ttgtttcaat gtttagttta gatattgcta acttgtgcta
     4801 ttaacctttt gacaagcgtg tagtattgtt tgttttgggt ttctttttga tttataacta
     4861 tttagtagtc cccagctagc taccagtaca gattttaccc catgggtagg attctattgt
     4921 taagccacat aacaaagcac actaattctg acaacactgc aaatggaaaa tacgaaccaa
     4981 aaaaaagtta caccgataag ttcaacaaac tgtccatttt tgatatttgc atgctcccct
     5041 atggactggc tgtggcaatg taatgcctgt ataatgtttt caaataaaaa taaatgcttt
     5101 atgaaagca
//
LOCUS       NM_001029859            3389 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens potassium channel tetramerization domain containing 21
            (KCTD21), mRNA.
ACCESSION   NM_001029859
VERSION     NM_001029859.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3389)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3389)
  AUTHORS   Spiombi E, Angrisani A, Fonte S, De Feudis G, Fabretti F, Cucchi D,
            Izzo M, Infante P, Miele E, Po A, Di Magno L, Magliozzi R,
            Guardavaccaro D, Maroder M, Canettieri G, Giannini G, Ferretti E,
            Gulino A, Di Marcotullio L, Moretti M and De Smaele E.
  TITLE     KCTD15 inhibits the Hedgehog pathway in Medulloblastoma cells by
            increasing protein levels of the oncosuppressor KCASH2
  JOURNAL   Oncogenesis 8 (11), 64 (2019)
   PUBMED   31685809
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3389)
  AUTHORS   De Smaele E, Di Marcotullio L, Moretti M, Pelloni M, Occhione MA,
            Infante P, Cucchi D, Greco A, Pietrosanti L, Todorovic J, Coni S,
            Canettieri G, Ferretti E, Bei R, Maroder M, Screpanti I and Gulino
            A.
  TITLE     Identification and characterization of KCASH2 and KCASH3, 2 novel
            Cullin3 adaptors suppressing histone deacetylase and Hedgehog
            activity in medulloblastoma
  JOURNAL   Neoplasia 13 (4), 374-385 (2011)
   PUBMED   21472142
  REMARK    GeneRIF: Rescuing KCASHs expression reduces the Hedgehog-dependent
            medulloblastoma growth, suggesting that loss of members of this
            novel family of native HDAC inhibitors is crucial in sustaining Hh
            pathway-mediated tumorigenesis.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DC325444.1, BC036058.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000340067.4/ ENSP00000339340.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC342183.1 and AK095233.1.
            On Nov 22, 2018 this sequence version replaced NM_001029859.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3389
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.1"
     gene            1..3389
                     /gene="KCTD21"
                     /gene_synonym="KCASH2"
                     /note="potassium channel tetramerization domain containing
                     21"
                     /db_xref="GeneID:283219"
                     /db_xref="HGNC:HGNC:27452"
                     /db_xref="MIM:618790"
     CDS             84..866
                     /gene="KCTD21"
                     /gene_synonym="KCASH2"
                     /note="potassium channel tetramerisation domain containing
                     21; potassium channel tetramerization domain-containing
                     protein 21"
                     /codon_start=1
                     /product="BTB/POZ domain-containing protein KCTD21"
                     /protein_id="NP_001025030.1"
                     /db_xref="CCDS:CCDS31645.1"
                     /db_xref="GeneID:283219"
                     /db_xref="HGNC:HGNC:27452"
                     /db_xref="MIM:618790"
                     /translation="MSDPITLNVGGKLYTTSLATLTSFPDSMLGAMFSGKMPTKRDSQG
                     NCFIDRDGKVFRYILNFLRTSHLDLPEDFQEMGLLRREADFYQVQPLIEALQEKEVELS
                     KAEKNAMLNITLNQRVQTVHFTVREAPQIYSLSSSSMEVFNANIFSTSCLFLKLLGSKL
                     FYCSNGNLSSITSHLQDPNHLTLDWVANVEGLPEEEYTKQNLKRLWVVPANKQINSFQV
                     FVEEVLKIALSDGFCIDSSHPHALDFMNNKIIRLIRYR"
     regulatory      1594..1599
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD21"
                     /gene_synonym="KCASH2"
                     /note="hexamer: AATGAA"
     polyA_site      1615
                     /gene="KCTD21"
                     /gene_synonym="KCASH2"
     regulatory      3374..3379
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD21"
                     /gene_synonym="KCASH2"
                     /note="hexamer: TATAAA"
     polyA_site      3389
                     /gene="KCTD21"
                     /gene_synonym="KCASH2"
                     /note="major polyA site"
ORIGIN
        1 gcaaagctgc gctggccgct cgcggaggga gaggctgcag agcgagggca ggaggactac
       61 ttccagcaac ccagtctcct gccatgtccg accccatcac gctgaacgtc ggggggaagc
      121 tctatacaac ctcactggcg accctgacca gcttccctga ctccatgcta ggcgccatgt
      181 tcagcgggaa gatgcccacc aagagggaca gccagggcaa ctgcttcatt gaccgtgacg
      241 gcaaagtgtt ccgctatatc ctcaacttcc tgcggacctc ccaccttgac ctgcctgagg
      301 acttccagga gatggggctg ctccgcaggg aggccgactt ctaccaggtg cagcccctga
      361 ttgaggccct gcaggagaag gaagtggagc tctccaaggc cgagaagaat gccatgctca
      421 acatcacact gaaccagcgt gtgcagacgg tccacttcac tgtgcgcgag gcaccccaga
      481 tctacagcct ctcctcttcc agcatggagg tcttcaacgc caacatcttc agcacctcct
      541 gcctcttcct caagctcctt ggctctaagc tcttctactg ctccaatggc aatctctcct
      601 ccatcaccag ccacttgcag gaccccaacc acctgactct ggactgggtg gccaatgtgg
      661 agggcctgcc agaggaggag tacaccaagc agaacctcaa gaggctctgg gtggtgcccg
      721 ccaacaagca gatcaacagc ttccaggtct tcgtggaaga ggtactgaaa atcgctctga
      781 gcgatggctt ctgcatcgat tcttctcacc cacatgctct ggattttatg aacaataaga
      841 ttattcgatt aatacggtac aggtaaaagg accccaacaa cactggagat ggggagtccc
      901 aggaagctca tgtcagccag gtcttggagg gcatctcgcc agtggtgcga ggcaggggac
      961 tatactaatc tgtattaatt gtgtagcagg acttgattcc ccccatgatg aagtccacct
     1021 tttggaatcc agtgtcctct gaacagaacc accttttttc ttgccatttt gagctgcaga
     1081 caggcggttt attatgacaa gtgaagagtc agctgatgtg tactaaagga ggccatagga
     1141 ggattttcca gccaggacaa aagagcagca gttttctcct gggctccatc tctctgtacc
     1201 gctagccagt gccgcattta tccatctgta agaaggccct ggtggagagg atgggatgag
     1261 aacaagaggc tacctccagt taaccaggac ataaagtccc cagcggttcc tgtcacacct
     1321 gctcctccct ccccagggtg catccatgat cgtggatgtt tgcccagggg tgaccatgtt
     1381 tggctggctt ggaatgctgt gcattctcag agctctgtta gtgtcccctc ttgggggtca
     1441 gagatgaggt gtggcagggt ctagaggaat gagtgtccag gcagagttca gaaggtagga
     1501 atgtccctct tgatagggct gaatcaaggg attcctggct ttagaaaggg tctgctatct
     1561 ttgcaaaaat gtgcaagtat ctgtagccag tgtaatgaaa tcacttccaa atccagcctg
     1621 ttacctgact tttgtcattg ttttcccaaa aatttgaggt atcattgaaa caggtcattt
     1681 taaacaaatc tattacggat tctcagggtt ggaaataatt cgatgattgc ttagtcctcc
     1741 cccaccccta gaacacccca gcacatctga agatgagcgc ctctccctgg gtacctgcaa
     1801 gtgatcacct tggcctgctt gcataccttg gctgatagga agcgcgccat ccccaaggca
     1861 gctcctgctg tggttggaca gtgctgactg ttagacagtt cttccctata ttgagccaaa
     1921 atctgtcctg ccacttgctg gatcttggtt gcagaccttc ccattcaccc agttatatat
     1981 ctttgctttc aaaatagtca ccttgagaga ccagacattt ttctgaaaac atcattactc
     2041 agaattcaga ttcccctctg ggatctgtct tcagaatcaa agttagctct tttctatccc
     2101 ctgtaagtca gtcccctttt gttgtagctt cacctcgttt gtgaccccca cttcacccac
     2161 cttccccacc atctgtggct ccatatacct ttcgaccatt ttctgctgga agaggaagat
     2221 tcacggcccc tgaggagatc cagaggaaag agacggtctc caagggtgct gtgcagcaag
     2281 gagcccagga gtggtatgaa ccgtaacagt gcccttagag taaatgtgcg gcccctaaga
     2341 ccctgccctc aggaaggcgg ccttcccctg cagtcctgtg tcccacccct gggtctctgt
     2401 agggtgccat ccagggcaag caacccaagc actgcttccc accgggtgat gagccatgca
     2461 ggcctccaaa ctgcacgtca tgattcatcc ctaaagtgag tttggccttg agagtcccca
     2521 gggtcctccc ccactgggca ggggtcctca aagccaagga agcctggtga cacaggcacc
     2581 catgggaggt gggcccagaa aggggcttcc catagatagg ccctgtgagt agggagcttg
     2641 tacactgggc catgggcagc gccagttccc ttgagcagta aaggcccttt tccccctacg
     2701 gtgggaccca ggagtctctc tgacagcttt tctgccaggc acagtggctc atgcctgtaa
     2761 tcccaacact ctgggaggcc gaggcgggaa gatcacttga ggtcaggagt tcaagaccag
     2821 cctggccaac atggtgaaac gtcgtctctg ctaaaaatac aaaaattagc tgggtgtggt
     2881 gacaggcgcc tataacccca gctatttggg aggctgaggc agtagaatcg cttgaaccca
     2941 gatagcagag gttgcagtga gctgagagtg tgccattgca gagagactcc atcccaaaaa
     3001 aagacagctg tcccaggcca agggtacttg ggagagcccc tcatggagaa cctagtttag
     3061 accaagtagc agaagctgtg gtcataacaa aacaatttga ggaagaaatc ttacaaatca
     3121 ccactgccct ttctcctttt ccataaaact gtccatcttt tcggtgctcc ctaatccaag
     3181 cagcttgact ttagagaagt tgcagaagca gtgaagccac taacatgctg tgtgacttta
     3241 tgcaagtcac tcacctcact gagccacctc catttcttca tctgtgaaat aggcataaca
     3301 gtaatacata accctaccta cctcacaggg ctgttgtgag gatcaaatga aataatgtaa
     3361 cgtgagaata cagtataaat gataaagga
//
LOCUS       NM_001029860            3260 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.
ACCESSION   NM_001029860
VERSION     NM_001029860.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3260)
  AUTHORS   Ma R, Liu W, Sun T, Dang C and Li K.
  TITLE     Clinical significance of FBXO43 in hepatocellular carcinoma and its
            impact on tumor cell proliferation, migration and invasion
  JOURNAL   PeerJ 11, e15373 (2023)
   PUBMED   37250703
  REMARK    GeneRIF: Clinical significance of FBXO43 in hepatocellular carcinoma
            and its impact on tumor cell proliferation, migration and invasion.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3260)
  AUTHORS   Wu S, Qin L, Yang J, Wang J and Shen Y.
  TITLE     Association between F-box-only protein 43 overexpression and
            hepatocellular carcinoma pathogenesis and prognosis
  JOURNAL   Cancer Med 12 (8), 10062-10076 (2023)
   PUBMED   36710413
  REMARK    GeneRIF: Association between F-box-only protein 43 overexpression
            and hepatocellular carcinoma pathogenesis and prognosis.
REFERENCE   3  (bases 1 to 3260)
  AUTHORS   Wu H, Zhang X, Shen Q, Liu Y, Gao Y, Wang G, Lv M, Hua R, Xu Y, Zhou
            P, Wei Z, Tao F, He X, Cao Y and Liu M.
  TITLE     A homozygous loss-of-function mutation in FBXO43 causes human
            non-obstructive azoospermia
  JOURNAL   Clin Genet 101 (1), 55-64 (2022)
   PUBMED   34595750
  REMARK    GeneRIF: A homozygous loss-of-function mutation in FBXO43 causes
            human non-obstructive azoospermia.
REFERENCE   4  (bases 1 to 3260)
  AUTHORS   Ma R, Zhu K, Yuan D, Gong M, Li Y, Li K and Meng L.
  TITLE     Downregulation of the FBXO43 gene inhibits tumor growth in human
            breast cancer by limiting its interaction with PCNA
  JOURNAL   J Transl Med 19 (1), 425 (2021)
   PUBMED   34645483
  REMARK    GeneRIF: Downregulation of the FBXO43 gene inhibits tumor growth in
            human breast cancer by limiting its interaction with PCNA.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3260)
  AUTHORS   Wang W, Wang W, Xu Y, Shi J, Fu J, Chen B, Mu J, Zhang Z, Zhao L,
            Lin J, Du J, Li Q, He L, Jin L, Sun X, Wang L and Sang Q.
  TITLE     FBXO43 variants in patients with female infertility characterized by
            early embryonic arrest
  JOURNAL   Hum Reprod 36 (8), 2392-2402 (2021)
   PUBMED   34052850
  REMARK    GeneRIF: FBXO43 variants in patients with female infertility
            characterized by early embryonic arrest.
REFERENCE   6  (bases 1 to 3260)
  AUTHORS   Tang W, Wu JQ, Guo Y, Hansen DV, Perry JA, Freel CD, Nutt L, Jackson
            PK and Kornbluth S.
  TITLE     Cdc2 and Mos regulate Emi2 stability to promote the meiosis
            I-meiosis II transition
  JOURNAL   Mol Biol Cell 19 (8), 3536-3543 (2008)
   PUBMED   18550795
  REMARK    GeneRIF: Cdc2 and Mos regulate Emi2 stability to promote the meiosis
            I-meiosis II transition
REFERENCE   7  (bases 1 to 3260)
  AUTHORS   Shoji S, Yoshida N, Amanai M, Ohgishi M, Fukui T, Fujimoto S, Nakano
            Y, Kajikawa E and Perry AC.
  TITLE     Mammalian Emi2 mediates cytostatic arrest and transduces the signal
            for meiotic exit via Cdc20
  JOURNAL   EMBO J 25 (4), 834-845 (2006)
   PUBMED   16456547
REFERENCE   8  (bases 1 to 3260)
  AUTHORS   Hansen DV, Tung JJ and Jackson PK.
  TITLE     CaMKII and polo-like kinase 1 sequentially phosphorylate the
            cytostatic factor Emi2/XErp1 to trigger its destruction and meiotic
            exit
  JOURNAL   Proc Natl Acad Sci U S A 103 (3), 608-613 (2006)
   PUBMED   16407128
REFERENCE   9  (bases 1 to 3260)
  AUTHORS   Tung JJ, Hansen DV, Ban KH, Loktev AV, Summers MK, Adler JR 3rd and
            Jackson PK.
  TITLE     A role for the anaphase-promoting complex inhibitor Emi2/XErp1, a
            homolog of early mitotic inhibitor 1, in cytostatic factor arrest of
            Xenopus eggs
  JOURNAL   Proc Natl Acad Sci U S A 102 (12), 4318-4323 (2005)
   PUBMED   15753281
REFERENCE   10  (bases 1 to 3260)
  AUTHORS   Jin,J., Cardozo,T., Lovering,R.C., Elledge,S.J., Pagano,M. and
            Harper,J.W.
  TITLE     Systematic analysis and nomenclature of mammalian F-box proteins
  JOURNAL   Genes Dev 18 (21), 2573-2580 (2004)
   PUBMED   15520277
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC028709.1, SRR14038193.2131433.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000428847.3/ ENSP00000403293.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA996924.1, DB088246.1, AK310518.1, BC028709.1, AI198884.1,
            BG391951.1 and AC021590.10.
            On Nov 23, 2018 this sequence version replaced NM_001029860.3.
            Summary: Members of the F-box protein family, such as FBXO43, are
            characterized by an approximately 40-amino acid F-box motif. SCF
            complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM
            603134), and F-box proteins, act as protein-ubiquitin ligases.
            F-box proteins interact with SKP1 through the F box, and they
            interact with ubiquitination targets through other protein
            interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied
            by OMIM, Mar 2008].
            Transcript Variant: This variant (2) represents the shorter
            transcript but encodes the supported protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3260
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.2"
     gene            1..3260
                     /gene="FBXO43"
                     /gene_synonym="EMI2; ERP1; FBX43; OOMD12; OZEMA12; SPGF64"
                     /note="F-box protein 43"
                     /db_xref="GeneID:286151"
                     /db_xref="HGNC:HGNC:28521"
                     /db_xref="MIM:609110"
     misc_feature    614..616
                     /gene="FBXO43"
                     /gene_synonym="EMI2; ERP1; FBX43; OOMD12; OZEMA12; SPGF64"
                     /note="upstream in-frame stop codon"
     CDS             683..2809
                     /gene="FBXO43"
                     /gene_synonym="EMI2; ERP1; FBX43; OOMD12; OZEMA12; SPGF64"
                     /note="early mitotic inhibitor 2; endogenous meiotic
                     inhibitor 2"
                     /codon_start=1
                     /product="F-box only protein 43"
                     /protein_id="NP_001025031.2"
                     /db_xref="CCDS:CCDS47904.1"
                     /db_xref="GeneID:286151"
                     /db_xref="HGNC:HGNC:28521"
                     /db_xref="MIM:609110"
                     /translation="MSFKDKDERISCLEAYVTLTSKSSRFTDETEILKMSQRHSGQAGT
                     EAGNGADSPPIVNSKYSTFRDFCSTSSFQDSGYNELKSCSFDNIDKEYLGKKEKGPTLL
                     YEHPETSGLGLTHPLESPTQKKKCILPRKEKDKTPELCETPKISGKKCLPRRRLNVSFA
                     LLKGDFESQNSSLESSISQVINLEKNIPSSASGFSRANNFSPLVTSTLKTEEVTSCSQK
                     LRLNFSQQKTSTIDDSKDDCSLFEVECISPIQGNNFKDSITHDFSDSSLCINDENACPE
                     LLGSSVSGTTCGTDEDIFVTPISNLVANIRFNASQILSPSPEVRGSISTPEDSGFNSLS
                     LEKSEDSLSDQEGSFQELLQKHKGTPKVGDTIRKTRHLGRSRRLSTLREQSSQSETEEE
                     KQIVHPDSEKRAAAASAISEGQLSSDESGDLTFSLKNLSKTPALQLVHELFMKSKRKRL
                     QENSGHEFLEQGDGEKIAVLQCILAGLIGKKMGIEKLDILTELKYRNLKHILAMVLESL
                     TAESLCSVWKVSRNWREIVVQDKNANRRRKFYITQLKTDSEGAVLNVEDAATRLQLLNR
                     SALRSVQAQARIPGSQREQGSTLSPWGEVLTPLASSSVTHLSSKQEEYVKVAKTLFTDE
                     ALKPCPRCQSPAKYQPYKKRGLCSRTACGFDFCVLCLCAYHGSEECSRGAAKPRNRKDA
                     LPGSAQSKRNLKRL"
     misc_feature    785..847
                     /gene="FBXO43"
                     /gene_synonym="EMI2; ERP1; FBX43; OOMD12; OZEMA12; SPGF64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4G163.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    908..910
                     /gene="FBXO43"
                     /gene_synonym="EMI2; ERP1; FBX43; OOMD12; OZEMA12; SPGF64"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:15753281; propagated from
                     UniProtKB/Swiss-Prot (Q4G163.3); phosphorylation site"
     misc_feature    1382..1384
                     /gene="FBXO43"
                     /gene_synonym="EMI2; ERP1; FBX43; OOMD12; OZEMA12; SPGF64"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:16407128; propagated from
                     UniProtKB/Swiss-Prot (Q4G163.3); phosphorylation site"
     misc_feature    1640..1960
                     /gene="FBXO43"
                     /gene_synonym="EMI2; ERP1; FBX43; OOMD12; OZEMA12; SPGF64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4G163.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1682..1684
                     /gene="FBXO43"
                     /gene_synonym="EMI2; ERP1; FBX43; OOMD12; OZEMA12; SPGF64"
                     /note="Phosphoserine.
                     /evidence=ECO:0000305|PubMed:15753281; propagated from
                     UniProtKB/Swiss-Prot (Q4G163.3); phosphorylation site"
     misc_feature    2726..2806
                     /gene="FBXO43"
                     /gene_synonym="EMI2; ERP1; FBX43; OOMD12; OZEMA12; SPGF64"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4G163.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3032..3037
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBXO43"
                     /gene_synonym="EMI2; ERP1; FBX43; OOMD12; OZEMA12; SPGF64"
                     /note="hexamer: AATAAA"
     polyA_site      3055
                     /gene="FBXO43"
                     /gene_synonym="EMI2; ERP1; FBX43; OOMD12; OZEMA12; SPGF64"
                     /note="major polyA site"
     regulatory      3232..3237
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBXO43"
                     /gene_synonym="EMI2; ERP1; FBX43; OOMD12; OZEMA12; SPGF64"
                     /note="hexamer: AATAAA"
     polyA_site      3260
                     /gene="FBXO43"
                     /gene_synonym="EMI2; ERP1; FBX43; OOMD12; OZEMA12; SPGF64"
ORIGIN
        1 aaacctaagg aggtaaaggc agcggcccca cgcgaagctg gcgtgggggt tgccatagcc
       61 cgcatcccag ggggcgaggc cgaggcttct ccccggccca tccagcggct gctgcccggc
      121 tcctctccca cctgtccgct tcggcgcctc gcccggcccc gcggcctcca ggcaggcggc
      181 gggaccccag gcgagtgccc gttagcgggt ctcccggcgg cccggccccg cgtcgccctg
      241 tgtcttccag gtgctgggcc tagggaggcg cgcggcagcc ctcactcctc cgctcctggt
      301 gacgccagcc catcccctgc tgcccttggc tttctgggcc tagcggatct ttgacgccct
      361 ggtgagaccg ttacccaccc gcccgccata gctcctcggg ggagtcagtg ccaggctgca
      421 gcacacgctg ccttttcagg aacccgaatt tgggaagttt actcatgtct aagtccagct
      481 ggagaaaaca aggatattaa gataactatt ttctggaggg ctgaaggaaa ttcaaaatga
      541 tttagacctt ctcaagtgtt aggaataatc cctgcggcat gcaccctgtg tacccttcga
      601 ctttgagcaa tcatgatgct gctgcacctt tcaattaatt gtgcaaacta aagttttcct
      661 ctttaagtgg cattattttg gcatgagttt taaagacaaa gatgagagaa tttcttgttt
      721 ggaagcctac gtaactttga catctaagag ctcaagattt actgatgaaa cagagatttt
      781 gaagatgtcg caaaggcact caggtcaagc tggcactgaa gcaggaaatg gggcggactc
      841 tcctccaatt gtcaactcca agtactccac cttcagagat ttttgttcca catcttcatt
      901 tcaagatagt ggctacaatg agttaaaatc ttgtagcttt gataatatag ataaagaata
      961 tcttggaaag aaagaaaaag gcccaacatt actctatgag caccctgaaa cttcaggcct
     1021 gggcttaaca catcctttag aatctcccac tcaaaaaaag aaatgtatct tgcctagaaa
     1081 ggaaaaggat aaaaccccag aactttgtga aacacctaaa atcagtggga aaaaatgttt
     1141 acctcgcaga aggttgaatg tatctttcgc tcttctaaaa ggggactttg aatcacaaaa
     1201 tagttcttta gaaagtagta taagccaagt tatcaactta gaaaaaaata ttccaagcag
     1261 tgcttcaggt ttttccaggg caaataattt tagcccttta gttactagca ctttaaaaac
     1321 agaagaagtg acttcatgca gtcaaaaatt gaggcttaat ttttctcagc aaaagacttc
     1381 cacaattgat gattccaaag atgattgtag cctatttgaa gttgaatgta tatctccaat
     1441 tcagggcaat aattttaaag actctatcac acatgacttt agtgatagca gtttatgcat
     1501 taatgatgag aatgcatgtc cagagctcct gggctcctct gttagtggaa caacttgtgg
     1561 aacagatgag gacatatttg tgactccgat aagtaatctt gtggcaaaca ttagatttaa
     1621 cgcaagtcaa atactttctc cttcacctga agtgagaggc agtatttcaa cgcctgaaga
     1681 cagtggtttt aactcactta gcttggagaa atcagaagat tccctgtctg accaggaggg
     1741 ttcttttcaa gaactactgc agaaacataa ggggactccc aaagttgggg acaccataag
     1801 aaagacaaga catcttggaa ggtcgagaag actgtccacc cttcgggaac aaagctcgca
     1861 gtcagagaca gaagaggaaa agcagattgt ccaccctgac tctgaaaaaa gagcagcagc
     1921 tgcttctgcc atctcagagg gtcagctgag tagtgatgag agtggggatt tgacctttag
     1981 cttaaagaat ttatcaaaga ccccagcctt gcaattggta catgagctgt tcatgaaaag
     2041 caagaggaaa agattacagg aaaatagtgg acatgaattc ttagagcaag gggatgggga
     2101 gaaaatagct gtactgcagt gtatacttgc aggactgatc ggcaagaaaa tgggtataga
     2161 aaaactggac atcttaacag aattaaaata tagaaattta aagcatattc ttgctatggt
     2221 tttagagtcc ttgaccgcag agagcctatg cagtgtttgg aaagtaagca gaaattggcg
     2281 tgaaattgtt gttcaagata aaaatgcaaa tcggaggagg aaattttata tcacacaact
     2341 gaaaacagat tctgaggggg ctgtattaaa tgtcgaggat gctgccactc ggctccagct
     2401 tttaaatcgc tcagctttaa gatctgtgca ggcacaggct aggatacctg gttctcagag
     2461 agagcaaggg tcaacattat ctccctgggg agaagttttg acacctctag caagctcttc
     2521 tgttactcac ttaagtagta aacaggaaga atatgttaag gttgccaaaa cactttttac
     2581 tgatgaagca ttaaaacctt gcccaaggtg ccagtcccct gctaagtacc agccatataa
     2641 gaaaagggga ctgtgtagcc gaacagcctg tggttttgac ttttgtgtgt tatgtctgtg
     2701 tgcttatcat gggtctgaag aatgtagtag aggagcagca aagccaagaa atagaaaaga
     2761 tgctctccca ggaagtgccc agagtaagcg gaatttaaaa cgcctctgaa gagactaaat
     2821 atagaactcc cccatgcagt gttctattta tctgacttaa aattatgaat attttgaata
     2881 catgcaaatc ttcccattaa tgacaggtga tgattaattt cctattttgt atatattata
     2941 atcgatgtca ttgtatgttt tctttaaagt tgttttgaaa aaattttatt ttactatgtc
     3001 attttaccca ttttaataac ttggtatttt aaataaagaa ttttcattgt tgttatatgt
     3061 atgtacttta ttgttttatg taacatttta aatttgtgca tttcatcact cttgacatgt
     3121 tcttcaatca ttttttaaaa aatagttttt cagataatat taaagatttt gaactctaga
     3181 cagatggcct tatagatttg gaaaatgagt acttgactga aatgaaatat aaataaaata
     3241 ttttcagaag ttctattgaa
//
LOCUS       NM_001029861            1565 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens nanos C2HC-type zinc finger 2 (NANOS2), mRNA.
ACCESSION   NM_001029861
VERSION     NM_001029861.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1565)
  AUTHORS   Hirano T, Wright D, Suzuki A and Saga Y.
  TITLE     A cooperative mechanism of target RNA selection via
            germ-cell-specific RNA-binding proteins NANOS2 and DND1
  JOURNAL   Cell Rep 39 (11), 110894 (2022)
   PUBMED   35705038
  REMARK    GeneRIF: A cooperative mechanism of target RNA selection via
            germ-cell-specific RNA-binding proteins NANOS2 and DND1.
REFERENCE   2  (bases 1 to 1565)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1565)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1565)
  AUTHORS   Farshchian M, Matin MM, Bahrami M, Geerts D, Dastpak M, Shahriyari
            M, Tajeran M, Mirahmadi M and Bahrami AR.
  TITLE     Pluripotency induction in HEK293T cells by concurrent expression of
            STELLA, OCT4 and NANOS2
  JOURNAL   Biochem Biophys Res Commun 480 (4), 635-640 (2016)
   PUBMED   27794480
  REMARK    GeneRIF: We conclude that heterogeneous population of the HEK293T
            cells might be easily shifted towards expression of the pluripotency
            markers by ectopic expression of the SON factors or by growth in
            serum depleted media.
REFERENCE   5  (bases 1 to 1565)
  AUTHORS   Bhandari D, Raisch T, Weichenrieder O, Jonas S and Izaurralde E.
  TITLE     Structural basis for the Nanos-mediated recruitment of the CCR4-NOT
            complex and translational repression
  JOURNAL   Genes Dev 28 (8), 888-901 (2014)
   PUBMED   24736845
REFERENCE   6  (bases 1 to 1565)
  AUTHORS   Jorgensen A, Nielsen JE, Blomberg Jensen M, Graem N and Rajpert-De
            Meyts E.
  TITLE     Analysis of meiosis regulators in human gonads: a sexually dimorphic
            spatio-temporal expression pattern suggests involvement of DMRT1 in
            meiotic entry
  JOURNAL   Mol Hum Reprod 18 (11), 523-534 (2012)
   PUBMED   22899867
REFERENCE   7  (bases 1 to 1565)
  AUTHORS   Kusz KM, Tomczyk L, Sajek M, Spik A, Latos-Bielenska A, Jedrzejczak
            P, Pawelczyk L and Jaruzelska J.
  TITLE     The highly conserved NANOS2 protein: testis-specific expression and
            significance for the human male reproduction
  JOURNAL   Mol Hum Reprod 15 (3), 165-171 (2009)
   PUBMED   19168545
  REMARK    GeneRIF: Data describe for the first time the expression pattern of
            the NANOS2 gene in human tissues and show that it is testis
            specific. We found that NANOS2 protein is present in prenatal germ
            cells and at later stages in spermatogenesis.
REFERENCE   8  (bases 1 to 1565)
  AUTHORS   Chang HR, Tsao DA, Wang SR and Yu HS.
  TITLE     Expression of nitric oxide synthases in keratinocytes after UVB
            irradiation
  JOURNAL   Arch Dermatol Res 295 (7), 293-296 (2003)
   PUBMED   14615895
  REMARK    GeneRIF: The increased NO production with increased expression of
            iNOS and ncNOS may contribute to the pathological and physiological
            features of UVB-induced erythema and skin inflammation.
REFERENCE   9  (bases 1 to 1565)
  AUTHORS   Tsuda M, Sasaoka Y, Kiso M, Abe K, Haraguchi S, Kobayashi S and Saga
            Y.
  TITLE     Conserved role of nanos proteins in germ cell development
  JOURNAL   Science 301 (5637), 1239-1241 (2003)
   PUBMED   12947200
REFERENCE   10  (bases 1 to 1565)
  AUTHORS   Jaruzelska J, Kotecki M, Kusz K, Spik A, Firpo M and Reijo Pera RA.
  TITLE     Conservation of a Pumilio-Nanos complex from Drosophila germ plasm
            to human germ cells
  JOURNAL   Dev Genes Evol 213 (3), 120-126 (2003)
   PUBMED   12690449
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC042883.1, BI463423.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000341294.4/ ENSP00000341021.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC042883.1, BC117484.1 and AC008623.4.
            On May 17, 2019 this sequence version replaced NM_001029861.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1565
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..1565
                     /gene="NANOS2"
                     /gene_synonym="NOS2; ZC2HC12B"
                     /note="nanos C2HC-type zinc finger 2"
                     /db_xref="GeneID:339345"
                     /db_xref="HGNC:HGNC:23292"
                     /db_xref="MIM:608228"
     CDS             86..502
                     /gene="NANOS2"
                     /gene_synonym="NOS2; ZC2HC12B"
                     /note="NOS-2"
                     /codon_start=1
                     /product="nanos homolog 2"
                     /protein_id="NP_001025032.1"
                     /db_xref="CCDS:CCDS33056.1"
                     /db_xref="GeneID:339345"
                     /db_xref="HGNC:HGNC:23292"
                     /db_xref="MIM:608228"
                     /translation="MQLPPFDMWKDYFNLSQVVWALIASRGQRLETQEIEEPSPGPPLG
                     QDQGLGAPGANGGLGTLCNFCKHNGESRHVYSSHQLKTPDGVVVCPILRHYVCPVCGAT
                     GDQAHTLKYCPLNGGQQSLYRRSGRNSAGRRVKR"
     misc_feature    176..250
                     /gene="NANOS2"
                     /gene_synonym="NOS2; ZC2HC12B"
                     /note="propagated from UniProtKB/Swiss-Prot (P60321.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    272..355
                     /gene="NANOS2"
                     /gene_synonym="NOS2; ZC2HC12B"
                     /note="propagated from UniProtKB/Swiss-Prot (P60321.1);
                     Region: C2HC 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00855"
     misc_feature    377..427
                     /gene="NANOS2"
                     /gene_synonym="NOS2; ZC2HC12B"
                     /note="propagated from UniProtKB/Swiss-Prot (P60321.1);
                     Region: C2HC 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00855"
     regulatory      1536..1541
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NANOS2"
                     /gene_synonym="NOS2; ZC2HC12B"
                     /note="hexamer: AATAAA"
     polyA_site      1565
                     /gene="NANOS2"
                     /gene_synonym="NOS2; ZC2HC12B"
                     /note="major polyA site"
ORIGIN
        1 gggaaacgcc tgctgctctt gcccttgccc acgggccccc agccccagcc cctctcctgt
       61 ggcccaccac ccctgctttg gtgccatgca gctgccaccc ttcgacatgt ggaaggacta
      121 cttcaacctg agccaggtgg tgtgggcgct gatcgcaagt cggggtcaaa ggctggagac
      181 ccaagagatt gaggagccaa gtcccgggcc tccgctgggg caggatcagg ggctgggggc
      241 gccaggggcc aacgggggcc tggggaccct gtgcaacttc tgcaagcaca acggggagtc
      301 ccgccacgtc tactcctcac accagctgaa gacaccggat ggcgtggtgg tgtgtcccat
      361 cctgaggcac tacgtgtgtc ccgtgtgcgg ggccaccggt gaccaggccc atacgctcaa
      421 gtactgcccg cttaacggtg gccagcagtc cctctaccgc cgcagcgggc gcaactcggc
      481 cggacgcagg gtcaagcgct gagcatcgtg agatgctcac cacccgcacc cctgaccctc
      541 ctggtccatc ccacccaagt ccctaaactc tctcttccag tcacccagcc ctttggaatt
      601 tctggccccc agaactccac cctggctgga tcctgaaaca gtggaggctg ctgggagcca
      661 ggccagcccc gcccccttgg acctgtcagc cctcggagct ctggcctgtg ggcgttggcc
      721 tgagggtcct tggtgccgcg ggaacccttc ctgcacggcc ctgtagcgcc ctctgggccc
      781 cggttcatgg atcttttgtc ctcgtggggc ctgctggtga ctggagccct gccccttcga
      841 cttctctgtt ccttgtggag ttcttggatt tttgaacctc caggattcca cggtgctgtc
      901 ccaagccagc ccttaggaga tactgaacaa ggctggctga gaagtgccta ctcaagaact
      961 tcaagatggg atgtcgactt aagaccagcc ttctccatct tcagcctcct gcagaaccac
     1021 ggtgtcatcg tggaccacgc ctgttcattc cttccctgac ctcagtaccc atccgtcagg
     1081 agcggagtag gactctggag agcaccgtat cactggaggg caccgtgtct tcgcaggctc
     1141 acctgtggat ggagagccgt ggggtgagct gacacctttc aatgccccct ggttgttctt
     1201 ccccttgttc agcccattgc acccggtacc tgcccccatc cccaaatcac cgatgggtcc
     1261 tttcccccag cgagaagcat atctctcgac cacctcccgt ccgacccccc aaatcgtgat
     1321 agttgactaa aggacatttt tttttcctcc tgtgtttttc aacctccaac gttcaagtca
     1381 aggaaccgcc gataagaagg gggtttgagt acccggatgg gaatggcaat ggcctagctt
     1441 ttattttagg ggcaaagaga agaagggccc ccgtcagatt ttaagttgtt cagtttttgg
     1501 cacagggtcg ggaccctgag tattgagctc tggtgaataa aaaggttttc tagtcgtctt
     1561 tgaaa
//
LOCUS       NM_001029863            4235 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens chromosome 6 open reading frame 120 (C6orf120),
            transcript variant 1, mRNA.
ACCESSION   NM_001029863
VERSION     NM_001029863.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4235)
  AUTHORS   Zhang MK, Ma HM, Zhang J, Song XC, Ye XH, Li YF, Zhang YF, He LL,
            Wei HS and Li X.
  TITLE     Deletion of the C6orf120 gene with unknown function ameliorates
            autoimmune hepatitis induced by concanavalin A
  JOURNAL   Cell Immunol 331, 9-15 (2018)
   PUBMED   29748000
REFERENCE   2  (bases 1 to 4235)
  AUTHORS   Li X, Qiao Y, Chang LS, Xiao F, Lu LH, Hao XH, Zhang RW, Wu H and
            Wei HS.
  TITLE     Role of C6ORF120, an N-glycosylated protein, is implicated in
            apoptosis of CD4 T lymphocytes
  JOURNAL   Chin Med J (Engl) 124 (21), 3560-3567 (2011)
   PUBMED   22340178
  REMARK    GeneRIF: Results suggested that C6ORF120 could induce apoptosis of
            CD4(+) T cells, at least in part, mediated with endoplasmic
            reticulum stress.
REFERENCE   3  (bases 1 to 4235)
  AUTHORS   Bradfield JP, Qu HQ, Wang K, Zhang H, Sleiman PM, Kim CE, Mentch FD,
            Qiu H, Glessner JT, Thomas KA, Frackelton EC, Chiavacci RM,
            Imielinski M, Monos DS, Pandey R, Bakay M, Grant SF, Polychronakos C
            and Hakonarson H.
  TITLE     A genome-wide meta-analysis of six type 1 diabetes cohorts
            identifies multiple associated loci
  JOURNAL   PLoS Genet 7 (9), e1002293 (2011)
   PUBMED   21980299
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC051700.1, AK295061.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000332290.4/ ENSP00000346931.1
            RefSeq Select criteria   :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL513547.16.
            On May 21, 2021 this sequence version replaced NM_001029863.2.
            Summary: This gene encodes a conserved, N-glycosylated protein that
            likely functions in the cellular response to endoplasmic reticulum
            stress. This protein is able to induce apoptosis in vitro in CD4+
            T-cells. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Nov 2015].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the shorter isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4235
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q27"
     gene            1..4235
                     /gene="C6orf120"
                     /note="chromosome 6 open reading frame 120"
                     /db_xref="GeneID:387263"
                     /db_xref="HGNC:HGNC:21247"
                     /db_xref="MIM:616987"
     misc_feature    152..154
                     /gene="C6orf120"
                     /note="upstream in-frame stop codon"
     CDS             335..910
                     /gene="C6orf120"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; UPF0669 protein C6orf120"
                     /codon_start=1
                     /product="UPF0669 protein C6orf120 isoform 1 precursor"
                     /protein_id="NP_001025034.1"
                     /db_xref="CCDS:CCDS34575.1"
                     /db_xref="GeneID:387263"
                     /db_xref="HGNC:HGNC:21247"
                     /db_xref="MIM:616987"
                     /translation="MAAPRGRAAPWTTALLLLLASQVLSPGSCADEEEVPEEWVLLHVV
                     QGQIGAGNYSYLRLNHEGKIVLRMRSLKGDADLYVSASSLHPSFDDYELQSATCGPDAV
                     SIPAHFRRPVGIGVYGHPSHLESEFEMKVYYDGTVEQHPFGEAAYPADGADAGQKHAGA
                     PEDASQEEESVLWTILISILKLVLEILF"
     sig_peptide     335..424
                     /gene="C6orf120"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     425..907
                     /gene="C6orf120"
                     /product="UPF0669 protein C6orf120. /id=PRO_0000297662"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z4R8.1)"
     misc_feature    491..493
                     /gene="C6orf120"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4R8.1); glycosylation site"
     regulatory      2719..2724
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6orf120"
                     /note="hexamer: AATAAA"
     polyA_site      2742
                     /gene="C6orf120"
                     /note="major polyA site"
     regulatory      4159..4164
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6orf120"
                     /note="hexamer: CATAAA"
     polyA_site      4181
                     /gene="C6orf120"
                     /note="major polyA site"
     regulatory      4210..4215
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6orf120"
                     /note="hexamer: AATAAA"
     polyA_site      4235
                     /gene="C6orf120"
ORIGIN
        1 acttccgcct ccggcgaggc tccggcctcg ggtccggatg tataaagcgc ggccccctgc
       61 ggggagtggt ggtgagtccg agggtgccac agcggccctg cccctgcccc tgcccctgcc
      121 ctgagtgggc gccgcgctac gggggagggg ttaacccacc cctcctcccc ggggcctcac
      181 gcgggtggga agggacagtc ccagcgacag accaggcgcc tggacgcgcc gtggacccgc
      241 gtgcggacgg cggggacagg ctccggtgct gagcgcctcc ggtgtcccca gcagcactga
      301 cccacttgca ggccccggag ctgagccgcc agccatggcc gctccccgcg ggagggccgc
      361 gccctggacg acggccctgc tgctgctcct agcctcgcag gtcctgtctc cgggaagctg
      421 cgcggacgag gaggaggtcc ccgaggagtg ggtgctcctg cacgtcgtcc agggccagat
      481 aggcgccggg aactacagct acctgcggct gaaccacgag ggcaagatag tcctcaggat
      541 gcgcagcctc aagggagatg cggatctgta cgtctccgcc agcagcctgc accccagctt
      601 cgacgactac gagctgcaat cggccacctg cggcccggac gccgtgtcca tccccgcgca
      661 cttccggcgc ccagtgggca tcggcgtcta tggacacccc tcccacctgg agagcgagtt
      721 cgagatgaag gtgtactacg acggcacggt cgagcagcac ccgttcggcg aggccgccta
      781 ccccgccgac ggcgcagatg ccggccagaa gcacgctggt gccccggaag acgcctcgca
      841 agaggaggaa tctgttctct ggacgatatt aattagcatt ttgaaactgg tacttgaaat
      901 tctcttttga gtcgttgacc acactctggg atataaaacc ctccatctgt gaagctgatt
      961 gcagtttgct gtgaaccttg ctacttgtac ttggttgaag ttctaggtac ctttagtcaa
     1021 gggatggaaa aataaagcca tacgcagttt tgttacctca gttaccccaa aaataggaaa
     1081 agcagcaagc acagtatttt aaagatcata attcctataa aaggactgtg cacaaagtgt
     1141 ttagactcca ttttcattag gcaggttgac taaaaatgat tgcagtaaca ggtttatata
     1201 aaatagagca acctttcatg ctgtgacaca aatcaaaagg ttgataactt tgtaatttta
     1261 ctctggagat tctaaccgaa gttggtgtaa gttttcaaga gttactaaaa tcaagttgga
     1321 aatgatttac gtacacttcc ctgagcctgg actaaagcct catgcctgta ccccaagtag
     1381 gtgatggtac ttttctatac aaaaaggatt tcctggcagg caggtattta caaagtttgt
     1441 tcctgtacca gtccaataat gacaactcta aatccagctg caccaaatct tagtgggcca
     1501 tttgtcatac ctatgaaaat tcttcagtta ttaaataact ttgtcagtgc tacctatggt
     1561 aggccggaaa caatgtagat taggaagttt catgaaaatt aacttttggg gctatggaga
     1621 aacagttaag tatcttaagt tactaaacat ttccactgaa tttttggagt gagccaaggt
     1681 tactataaaa tactttggaa gatgaattct ctacctggag ttagtttcga gagtaagcgt
     1741 agcttttaac agaaataact gcagatttta agctcataat ttgcaaaaaa aatcttttat
     1801 tggcatgaaa ataatgttgt aaatggcacc aaatattcca cttaaatgca tatacagtat
     1861 tagagtcaaa aactatttta tccctctttg ctgtttttcc cccttctgcc cactttcctg
     1921 ggtgttgggg gggcccgctg acaacagtca caaatccagc gacctaggaa aaaaattgtt
     1981 aatatagaat gaaaaattat ctttacagga ctgaatttta agcccatcta aactcttctg
     2041 ccttagctat cactaatgat attcctctct ggattttgtg gtgagaaggg cactatgagt
     2101 tccttaattt aaggaaaaaa tgtaaactta atcaatgtaa tcaatgccat gcaaaattca
     2161 ttgcaagtca agggggatgg gagagatgca atgccatacg gtgatacgga cctttaagaa
     2221 agtacaatct ttcctgaaat tcaaacacta tcatacttca aaaggtcaaa acccattccg
     2281 gaatttggct tttttaagac tttttctctc ctgctcactg gcagctgtgt gtcttaacag
     2341 cattctttca agtcctggtg tactctgctg acagcacttt aaaactttaa cagcacaatg
     2401 ataacttgta ctacatactt gatctgaatt actacagaaa aataattatg ttgcttgctt
     2461 aatgattccc aggaaacttc gttgtaggca tatattttat aagagtatta tacagtgtta
     2521 actatgcaag taagttctaa aattacacaa ttatctgtgt aatgttttag tccaattact
     2581 gtgatttatt caactctgtt ctaaagttat ctggaattgt catgctgcct caatttacag
     2641 aaatctataa tagatttcta tagaaatgta taaagacgta gcagtcattt tgttgtttct
     2701 aaatagataa catataaaaa taaaggcttt gttactttag tatttcagta gaaaaacacc
     2761 agctcattct atagaactat acttccaaaa cttagcaggg gcattctggc ctttcactta
     2821 tcctttagtt ggaattgtct agggatgaaa agctggtgga catgacctgt ataatcacag
     2881 ctttggtcat atttgcacat aagagtccac aagctcttca tgtcatgata gcgtttatgc
     2941 agccttttgg agtgctggga gagtctcatc acccaaagat aatgtttgct ctttttttaa
     3001 tctttacctg atggaatagc accaaggccc acacaaaaag tatgataacc tctgtcacac
     3061 atatcacaga acatcatttc ttcttcatgg tggggttgtc cacatataat gcatgtttta
     3121 cattccatac actgccatgg gtaggtctta atcatagaaa caagctccat tgtcatatcc
     3181 aggcaagaag gatggcctaa atcaaaacca gtattagtgg tatctcacat aagaaatttt
     3241 aacttaatat ggcacataaa atactagttt gctttaggac ttccagagaa tggctataat
     3301 gtcaaatcgc caaagagaaa tgaatataca atgtagagga aaacacatgg gctgtgtcta
     3361 tgcctcacaa gctaccctgt gtatttaatt tggtgactct ttggttgaaa tctgcctgaa
     3421 actataaatt ctagtttttg aaccaataaa tacggtggtt aaaattttaa aaagacattt
     3481 caatacttac cactattctc acattgggag cagtgtataa gtgattcagc ctttcctttc
     3541 ttgttggact ccttaccctt cagacaaatt ccacatatag catttggaat gacctttggc
     3601 tggaagggta gaagagggct ataaattcat gccagaagag cttactatgg gtttaaaagg
     3661 aattctgtta ctttattgcc ctatttttac ttttggtaac ttgctaatga ggaccatttt
     3721 gaaagacaaa acttgacagg agtctgccta caatgtaaga ctgcctactg aagaaagcat
     3781 taatttcatc ataaaatttg gtaaacagca tgatctcgta agattaaatg tagcattcta
     3841 tactccctac atgcacagta agatttgttt aatgaatgga aggaaagact aaatacaatg
     3901 tcaaatgtca ctattaattg gacaagaaaa tccaagtagc aaatgaccat tatgtgtaag
     3961 acttactcta aaaagaccat tttaaatagc tcatatatta attttgttta aaacctgcta
     4021 ttttccaaaa ctgcaaaact agagctataa aatctaagtt aaaaaatcag cttatcctca
     4081 ttggtatagt ggtatttaaa aaaaaatcag tttaaacatt tttaattgaa agatgtctca
     4141 tgcatacatt ggcgtgtaca taaacgtttg tggaaaactt agttgtgtga ttattctctt
     4201 tgcatgtcta ataaaagaat ctatacttag aaaga
//
LOCUS       NM_001029864            6377 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens KIAA1755 (KIAA1755), transcript variant 1, mRNA.
ACCESSION   NM_001029864
VERSION     NM_001029864.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6377)
  AUTHORS   von der Heyde B, Emmanouilidou A, Mazzaferro E, Vicenzi S, Hoijer I,
            Klingstrom T, Jumaa S, Dethlefsen O, Snieder H, de Geus E, Ameur A,
            Ingelsson E, Allalou A, Brooke HL and den Hoed M.
  TITLE     Translating GWAS-identified loci for cardiac rhythm and rate using
            an in vivo image- and CRISPR/Cas9-based approach
  JOURNAL   Sci Rep 10 (1), 11831 (2020)
   PUBMED   32678143
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6377)
  AUTHORS   den Hoed M, Eijgelsheim M, Esko T, Brundel BJ, Peal DS, Evans DM,
            Nolte IM, Segre AV, Holm H, Handsaker RE, Westra HJ, Johnson T,
            Isaacs A, Yang J, Lundby A, Zhao JH, Kim YJ, Go MJ, Almgren P,
            Bochud M, Boucher G, Cornelis MC, Gudbjartsson D, Hadley D, van der
            Harst P, Hayward C, den Heijer M, Igl W, Jackson AU, Kutalik Z, Luan
            J, Kemp JP, Kristiansson K, Ladenvall C, Lorentzon M, Montasser ME,
            Njajou OT, O'Reilly PF, Padmanabhan S, St Pourcain B, Rankinen T,
            Salo P, Tanaka T, Timpson NJ, Vitart V, Waite L, Wheeler W, Zhang W,
            Draisma HH, Feitosa MF, Kerr KF, Lind PA, Mihailov E, Onland-Moret
            NC, Song C, Weedon MN, Xie W, Yengo L, Absher D, Albert CM, Alonso
            A, Arking DE, de Bakker PI, Balkau B, Barlassina C, Benaglio P, Bis
            JC, Bouatia-Naji N, Brage S, Chanock SJ, Chines PS, Chung M, Darbar
            D, Dina C, Dorr M, Elliott P, Felix SB, Fischer K, Fuchsberger C, de
            Geus EJ, Goyette P, Gudnason V, Harris TB, Hartikainen AL, Havulinna
            AS, Heckbert SR, Hicks AA, Hofman A, Holewijn S, Hoogstra-Berends F,
            Hottenga JJ, Jensen MK, Johansson A, Junttila J, Kaab S, Kanon B,
            Ketkar S, Khaw KT, Knowles JW, Kooner AS, Kors JA, Kumari M, Milani
            L, Laiho P, Lakatta EG, Langenberg C, Leusink M, Liu Y, Luben RN,
            Lunetta KL, Lynch SN, Markus MR, Marques-Vidal P, Mateo Leach I,
            McArdle WL, McCarroll SA, Medland SE, Miller KA, Montgomery GW,
            Morrison AC, Muller-Nurasyid M, Navarro P, Nelis M, O'Connell JR,
            O'Donnell CJ, Ong KK, Newman AB, Peters A, Polasek O, Pouta A,
            Pramstaller PP, Psaty BM, Rao DC, Ring SM, Rossin EJ, Rudan D, Sanna
            S, Scott RA, Sehmi JS, Sharp S, Shin JT, Singleton AB, Smith AV,
            Soranzo N, Spector TD, Stewart C, Stringham HM, Tarasov KV,
            Uitterlinden AG, Vandenput L, Hwang SJ, Whitfield JB, Wijmenga C,
            Wild SH, Willemsen G, Wilson JF, Witteman JC, Wong A, Wong Q,
            Jamshidi Y, Zitting P, Boer JM, Boomsma DI, Borecki IB, van Duijn
            CM, Ekelund U, Forouhi NG, Froguel P, Hingorani A, Ingelsson E,
            Kivimaki M, Kronmal RA, Kuh D, Lind L, Martin NG, Oostra BA,
            Pedersen NL, Quertermous T, Rotter JI, van der Schouw YT, Verschuren
            WM, Walker M, Albanes D, Arnar DO, Assimes TL, Bandinelli S, Boehnke
            M, de Boer RA, Bouchard C, Caulfield WL, Chambers JC, Curhan G, Cusi
            D, Eriksson J, Ferrucci L, van Gilst WH, Glorioso N, de Graaf J,
            Groop L, Gyllensten U, Hsueh WC, Hu FB, Huikuri HV, Hunter DJ,
            Iribarren C, Isomaa B, Jarvelin MR, Jula A, Kahonen M, Kiemeney LA,
            van der Klauw MM, Kooner JS, Kraft P, Iacoviello L, Lehtimaki T,
            Lokki ML, Mitchell BD, Navis G, Nieminen MS, Ohlsson C, Poulter NR,
            Qi L, Raitakari OT, Rimm EB, Rioux JD, Rizzi F, Rudan I, Salomaa V,
            Sever PS, Shields DC, Shuldiner AR, Sinisalo J, Stanton AV, Stolk
            RP, Strachan DP, Tardif JC, Thorsteinsdottir U, Tuomilehto J, van
            Veldhuisen DJ, Virtamo J, Viikari J, Vollenweider P, Waeber G, Widen
            E, Cho YS, Olsen JV, Visscher PM, Willer C, Franke L, Erdmann J,
            Thompson JR, Pfeufer A, Sotoodehnia N, Newton-Cheh C, Ellinor PT,
            Stricker BH, Metspalu A, Perola M, Beckmann JS, Smith GD, Stefansson
            K, Wareham NJ, Munroe PB, Sibon OC, Milan DJ, Snieder H, Samani NJ
            and Loos RJ.
  CONSRTM   Global BPgen Consortium; CARDIoGRAM Consortium; PR GWAS Consortium;
            QRS GWAS Consortium; QT-IGC Consortium; CHARGE-AF Consortium
  TITLE     Identification of heart rate-associated loci and their effects on
            cardiac conduction and rhythm disorders
  JOURNAL   Nat Genet 45 (6), 621-631 (2013)
   PUBMED   23583979
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.246173.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000279024.9/ ENSP00000279024.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL031651.33.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001029864.1.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6377
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.23"
     gene            1..6377
                     /gene="KIAA1755"
                     /gene_synonym="quo"
                     /note="KIAA1755"
                     /db_xref="GeneID:85449"
                     /db_xref="HGNC:HGNC:29372"
     CDS             236..3838
                     /gene="KIAA1755"
                     /gene_synonym="quo"
                     /note="isoform a is encoded by transcript variant 1;
                     RP5-1054A22.3; quattro homolog"
                     /codon_start=1
                     /product="uncharacterized protein KIAA1755 isoform a"
                     /protein_id="NP_001025035.1"
                     /db_xref="CCDS:CCDS33467.1"
                     /db_xref="GeneID:85449"
                     /db_xref="HGNC:HGNC:29372"
                     /translation="MDPPSLDTAIQHALAGLYPPFEATAPTVLGQVFRLLDSGFQGDGL
                     SFLLDFLIPAKRLCEQVREAACAPYSHCLFLHEGWPLCLRDEVVVHLAPLNPLLLRQGD
                     FYLQVEPQEEQSVCIMIKCLSLDLCTVDKKPVPEPAYPILFTQEWLEAINSDFEGNPLH
                     NCLVASENGIAPVPWTKITSPEFVDDRPQVVNALCQAWGPLPLEALDLSSPQELHQASS
                     PDNQVLPAQSLAKGKGRTYGSKYPGLIKVEQARCGEVAFRMDEVVSQDFEGDYVALLGF
                     SQESRGESPSREAGTSSGCTSGALEEIAGTKETPLFQKILPLSEANEGPSLGNRACTKP
                     ESSEERPYNLGFRRKVNLKAPTHNSERPPQGSYMNVLEDALDCASGLRAGVSQEPAASK
                     MQGPLGNPENMVQLRPGPRQASSPRLSPASPAAAASETKIEVKTKERNGRLPKPMPCPS
                     RNTSSPEPPTPGLKFSFLRGQRQPSVTPEKASLQHNGPWKVLCSLYSPKPNRAKSLGKA
                     GTTQTKTSGPATAPSPLTEEKAALPEASAGSPERGPTLEEEPPGPEPRIGALGVKVFRS
                     RIACLPGGRDRAGRPLLLVSTTEGAWEAPWCTVSEVTKLLSYLCTIPRPEDKAKGLAVL
                     IDARRQPPQPGLVSALQATQAQVPASIRAILFLGEKEAALQLQTLPDVQVEVLTSLKAL
                     SHHVDPSQLPAVLEGPFPYCHTEWVHFFQKLDPFLADLHQASSLLQASIEEFEKADPPG
                     GMQEATRCLSKSKELMEAVLRDPGLLGLQREGGATLARLQHDASRLDFSPDVRSHLAAA
                     TALYSLVDEQLHVLVTASNSLLGKLELRVRLGRLEAAIHQVSDWMEQEGRRCLQSLTPK
                     DGSLETVEKAHAEFENFFLQAAAQYRRGLELSKQAAQLGATARGAGEAERAEFPELAAF
                     ASTQRAFQAELTHFYMAAERQRTDLETLLHLHRFCKRMTWFHMDCQDLMAQLRLDKTSR
                     VSPGDQRRLHRYLQRLASEFPAEKLAAVGLQVASLSRAGLGQELWEEARIRHEEIRMLL
                     EKALTHSSCPEAPAAHSARPERRGVAAKGQGVSVEVTSKGRWDQPPLDSLGMDHLPKSY
                     WPPGPPRGEQNRTFQAGSPPQEAGQAAEAEDGKGSHKLPDPAREHLLATTFFRQQPPRQ
                     SQVPRLTGGSFSSEGTDSQTSLEDSPQTSPLASL"
     misc_feature    1079..1141
                     /gene="KIAA1755"
                     /gene_synonym="quo"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JYT7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1202..1351
                     /gene="KIAA1755"
                     /gene_synonym="quo"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JYT7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1409..1708
                     /gene="KIAA1755"
                     /gene_synonym="quo"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JYT7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1763..1939
                     /gene="KIAA1755"
                     /gene_synonym="quo"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JYT7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3401..3835
                     /gene="KIAA1755"
                     /gene_synonym="quo"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JYT7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4076..4081
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIAA1755"
                     /gene_synonym="quo"
                     /note="hexamer: AATAAA"
     polyA_site      4098
                     /gene="KIAA1755"
                     /gene_synonym="quo"
     regulatory      4384..4389
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIAA1755"
                     /gene_synonym="quo"
                     /note="hexamer: AATAAA"
     polyA_site      4408
                     /gene="KIAA1755"
                     /gene_synonym="quo"
                     /note="major polyA site"
     regulatory      6350..6355
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIAA1755"
                     /gene_synonym="quo"
                     /note="hexamer: TATAAA"
     polyA_site      6377
                     /gene="KIAA1755"
                     /gene_synonym="quo"
ORIGIN
        1 atgtctctcg ccgtctccag cctcagtccc tctctgtctc tctctcagtc tctctccctg
       61 tcctccccgg ccgctcctcc gagatgacgc cggggtcggt gccccgggcc tgccctatcc
      121 cctggctcca gggctaggcg ggaccgaggg ctgccccaga cagacggacc cgcggaccca
      181 cagaccccgc gcccaggaga ggagccgcgc cgcccgccgc tggcagcccg tcaccatgga
      241 ccctccatcc ctcgacacag ccatccagca tgccctggcg ggcctctatc ctcctttcga
      301 ggccacagca cccaccgtcc tgggtcaggt gttccgtctc ctggactctg gcttccaggg
      361 ggatgggctg agcttccttc tggatttcct gatccctgcc aagcgcctgt gtgagcaagt
      421 gcgagaagca gcctgtgctc cctactcaca ctgcctcttc ttacacgagg gctggccact
      481 ctgtctgagg gatgaagttg tggtccactt ggcacccctc aaccctctct tattgcgcca
      541 gggtgacttc tacctccaag tggagcccca ggaggagcag tctgtctgca tcatgatcaa
      601 atgcctctcc ctggacctct gcacagtgga caagaagcct gttccagagc cagcctaccc
      661 tatacttttc acccaagaat ggctggaggc catcaacagt gactttgagg gaaatcccct
      721 acacaactgc ttggtagcat cagaaaatgg gattgcccct gtgccttgga ccaagataac
      781 cagcccagag tttgtggatg acagacccca agtagtgaat gccctctgcc aagcctgggg
      841 gccccttcca ttagaggcac tggatttgag cagccctcaa gagttgcacc aggccagctc
      901 cccagacaac caggtgcttc ctgcccagag tttggccaag ggtaagggca ggacatatgg
      961 gagcaagtat ccaggactca tcaaggtgga gcaagcccgg tgtggggagg tggctttcag
     1021 gatggacgag gtggtcagcc aggacttcga gggagactat gtggctctcc taggcttttc
     1081 ccaagagagc agaggagagt ctcccagtag ggaggcaggc acatccagtg ggtgtacttc
     1141 tggggcacta gaggagatag ctggaactaa ggaaactccc ttatttcaaa agatactgcc
     1201 tctctcagag gccaatgaag gaccttcctt gggaaatcgg gcttgcacaa agccagaaag
     1261 ctctgaggag aggccctata atttgggctt caggagaaag gtcaatctta aagcacccac
     1321 ccacaactca gaaaggccgc cccaaggctc ctacatgaat gtccttgagg acgcactgga
     1381 ctgtgcctct ggtctcaggg caggtgtctc acaagagcca gctgcctcca agatgcaggg
     1441 acctctagga aacccagaga atatggtgca gctcaggcct ggaccaagac aagcctcctc
     1501 tccccgcctg tccccagctt ctcctgcagc tgcagcctct gaaacaaaga tagaggtgaa
     1561 gaccaaagag agaaatggga gacttcccaa gcccatgccc tgccctagca gaaacacctc
     1621 ctcccctgag ccccccactc ctgggctcaa attctcattc ttgagagggc agaggcaacc
     1681 ctctgtgacc ccggagaaag cctcactcca gcacaatggg ccctggaaag tcctgtgttc
     1741 cctctactct cctaaaccca accgagccaa atctttgggg aaagctggaa caactcagac
     1801 caaaacatct ggcccagcca ctgcccccag cccactgact gaggaaaagg ctgccttgcc
     1861 agaagcttct gcaggctccc cagaaagagg ccccaccctg gaggaggagc ccccagggcc
     1921 tgagcccagg attggggctc taggtgtcaa ggttttccgc tccaggatag catgcctgcc
     1981 aggtggccgg gacagggccg ggcggcccct gcttctggtg tcaactacag agggggcctg
     2041 ggaggcacca tggtgcacag tttcagaggt caccaagcta ctgtcctacc tgtgtaccat
     2101 ccccaggcct gaagataaag ccaaggggct ggcggtcctg attgacgcca ggagacagcc
     2161 cccacagccc ggtctggtca gcgccctgca ggccacccag gctcaggtcc cagcctctat
     2221 ccgggctatt ctcttcctgg gggagaagga ggcggctctc cagctgcaga cattacctga
     2281 cgtccaggtg gaggtgctga cctcattgaa ggccctcagc caccatgtgg accccagcca
     2341 gctgcccgca gtcctggaag gccccttccc ctactgccac accgagtggg ttcatttctt
     2401 ccagaagctg gaccctttcc ttgctgacct ccaccaggcc tcttccctgc tacaagcttc
     2461 catcgaggaa ttcgagaagg ccgacccccc tggggggatg caggaggcta ccaggtgcct
     2521 gagcaagtcc aaggagctga tggaggctgt gctgagggac cccggcctac tgggcctcca
     2581 gcgggaaggt ggagccaccc tggccaggct gcagcatgat gccagcaggc tggacttcag
     2641 ccctgatgtc aggagccatc tggctgcagc cactgccttg tacagccttg tggacgagca
     2701 gcttcatgtt ctggtcaccg cttccaacag cctcctgggg aagctggagc tccgtgtccg
     2761 cctgggccgc ctggaagctg ccattcacca ggtcagcgac tggatggagc aggaaggaag
     2821 gcggtgcctg caatcactga cccccaagga tggaagtttg gagacagtgg agaaagccca
     2881 cgcagaattt gagaacttct tcctccaggc tgcagcccag taccgccgag gcctggagct
     2941 gtccaagcag gccgctcagc tgggagctac agccagaggg gctggggagg cagaacgtgc
     3001 agagttccca gagctggcag cctttgcctc tacccagcgg gccttccagg ctgagctgac
     3061 ccacttttac atggcggccg agcggcaacg cacggacctc gagacgctgc tccacctgca
     3121 ccgcttctgc aagaggatga cctggttcca catggactgt caggacctga tggcccagct
     3181 caggctggac aagacctcaa gggtcagtcc tggggaccag cgccgcctcc accgctacct
     3241 gcagcgactg gcatctgagt tccctgctga gaagctcgca gccgtggggc tgcaggtggc
     3301 ctccctgagc cgggcaggcc tgggccagga gctatgggag gaggcccgga tcaggcatga
     3361 ggagatccgg atgctcctgg agaaggcact gacccacagc tcttgcccag aggctccagc
     3421 tgctcactca gcgcgcccag aacgaagagg ggtggcagcc aagggccagg gtgtgagtgt
     3481 agaggtcact tccaagggga ggtgggatca gcctccacta gactcactgg gcatggacca
     3541 tttgccaaag tcctattggc ctcctgggcc ccccagaggg gaacagaaca gaactttcca
     3601 ggcaggctct ccaccccagg aagctggcca ggctgcagag gctgaagacg gcaaaggctc
     3661 ccacaagctg cctgaccctg cccgcgagca tttgcttgcc accaccttct tccggcagca
     3721 gccccccagg cagagccagg tccctcgcct cactgggggc agcttctcct cagaggggac
     3781 agactcacag acatcccttg aggactcacc ccagacaagt ccccttgcct ccctctagct
     3841 gagaggcccc ttcagtcgca ccagcctcca ggagcactgg gccagggccc agctggaggg
     3901 gtagctggga gctctggtca gtcccagtga gacgtcacca tggagcactg gttttacatt
     3961 ctgcctctgc tgggaggatg agaactgtcg acctgcccct ggctccagaa aactcctgga
     4021 agacccgatc ttcacccatg cagaatagca agagtgggcg tcagaaccag ggcacaataa
     4081 atggtgtgat tggctccatc cctccaggct ctcattgtgg aaagacctgt cggcacagac
     4141 ccctccagag gtctcgctcg caggcaggca gacacccacc tgcagctcag gaacatacac
     4201 agctctcccc tcgggtacga gggccagtgt tgcccttagg cagaatcctc ggggagattc
     4261 gggagtgctt ccttgtcttg gattccagga aaatggaccc tgagatgagg atttaaggat
     4321 cagtgtgttt ggtgctgatc caggaacctc tgctggggga gtaggaggcg aatctgcaaa
     4381 gggaataaag agtatgttgt caagcaaatt ttcttttttt taatttttaa aacttcattg
     4441 tattttatgt ttagagatgg ggcctcacta cattgcccag gctggtctca aactcctggg
     4501 ctcaagtgat cctcttgcct tggcctgcca aagtgctggg attgcctttt ccgcccaccc
     4561 cccccgaccc caccagagac agggtctcac tctggtgtcc aggctggagt gcagtggtgc
     4621 aatcatagcc ttaaattcct gggttcaacc aatcctccca cctcagcctc ctaagtagct
     4681 gggactacag ttatgcacca ccatgctcag cttattattt atttattttt tgtagacatg
     4741 gggtcttgct atgttgccca ggcaggctga tctcaagctc aagtgatcct ctggactcag
     4801 cctcccaaag tgctgggatt atacgtatga gccactgtgc cccaccctca tacaaatttc
     4861 catgttggca actgtagctg gatctttctg gagatctctg aaagacagca tggaatcctt
     4921 gaacaccccc tgaggcgtga ggcatccaga gcatttatct gccaaccctc aggagctggc
     4981 actcgtagac agcacgcaca gccagctcca ttggtcttgg caaagagaat tgcctcctgg
     5041 agccagaggc cggttcctgt gcttagaaag gaaggacatg tcttctgtgc tccctgtctc
     5101 acaaggcctc ttcagcaggc atgggacctt cattctcaag ttcaaggaac cctgtggaac
     5161 cttgtccttg tcctccagag agaatcctct ccgccttaga ggtccctcct ctctctcacc
     5221 tccccaccaa gcctccctga actcaatgtc ttctgtcccc ttccctgccc aacttccact
     5281 tctctatgcc cagcctctgt ggcccagtac cattggggtt ctgtgggcag ctgggtcctg
     5341 gtggttgggg accgtgggaa ggggcctatc tgtcggatct tagatggagc atccagaagc
     5401 cccacccttc atactggcca gagtggcccc tgccagcgcc tctctggagt gtcattaagc
     5461 tgaaagtgtt tgccttacct ctgcagtagg atgcattact gaagtggcct cttggtcacc
     5521 tagctctgaa ttttcctggc tccagaaaga ggctgtgggg cacaggtccc ccacaatgag
     5581 gctgtgaagg ggagagaggc aggcctgggc caggcacagg aggacaacta gggcttctca
     5641 ggagctgtct cagccaagag tcacacactt gatacctaaa atggcttcag gaatcttcca
     5701 agactgaaga cttccccagg tgtggtctag ggcctgcctg cctcagagcc atgagcagag
     5761 ccggtcaaaa ggcttcctag ggaatcctac cccagacatt aaaatagact cttggtgctg
     5821 gcaggtggct ggaatctgcg tttgtagcca agtgctcttc ctgtgtgact cagcaaagtg
     5881 ggggtgcatt tggggaacac ccggggctgg ggcctgagtc ctccacccaa agccaggttt
     5941 gattcttgca ttcccctccc tgccttccat ccagacaggc ccaaagatgc aagaggcgtt
     6001 gatcagccca tctccatcca tgcctgttgc ctcagagagg gccgacggct tttaaaatgc
     6061 tgttgccata gcaacagcat ccagccagtg ggtaccacag gcagggagcc acagaaactg
     6121 gggtgctggg atggaaactg acttgtgaga gaccacagct actgctagaa ggaagggggg
     6181 caaagcgggc acaggtaatc taagaatact tgggcgggag gagtccccaa ggttaccttg
     6241 tgcatccctc tgtccccaga aagaactgta ccccaacaat ctctcccctc actgcatccc
     6301 ctggggaaga agggaatgca gaaatgaaat gtcataatga gtaacaatgt ataaaaatat
     6361 cgaataataa cagctaa
//
LOCUS       NM_001029865            1242 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens developing brain homeobox 1 (DBX1), mRNA.
ACCESSION   NM_001029865
VERSION     NM_001029865.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1242)
  AUTHORS   Kim J, Choi TI, Park S, Kim MH, Kim CH and Lee S.
  TITLE     Rnf220 cooperates with Zc4h2 to specify spinal progenitor domains
  JOURNAL   Development 145 (17) (2018)
   PUBMED   30177510
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1242)
  AUTHORS   Gray PA, Hayes JA, Ling GY, Llona I, Tupal S, Picardo MC, Ross SE,
            Hirata T, Corbin JG, Eugenin J and Del Negro CA.
  TITLE     Developmental origin of preBotzinger complex respiratory neurons
  JOURNAL   J Neurosci 30 (44), 14883-14895 (2010)
   PUBMED   21048147
  REMARK    GeneRIF: Dbx1-derived neurons are essential for the transgenic
            expression and generation of respiratory behavior both in vitro and
            in vivo.
REFERENCE   3  (bases 1 to 1242)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   4  (bases 1 to 1242)
  AUTHORS   Pierani A, Moran-Rivard L, Sunshine MJ, Littman DR, Goulding M and
            Jessell TM.
  TITLE     Control of interneuron fate in the developing spinal cord by the
            progenitor homeodomain protein Dbx1
  JOURNAL   Neuron 29 (2), 367-384 (2001)
   PUBMED   11239429
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.1059583.1,
            SRR14372080.1510593.1 [ECO:0000332]
            RNAseq introns :: partial sample support SAMEA2148874, SAMEA2162946
            [ECO:0000350]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000524983.3/ ENSP00000436881.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC068860.9.
            On May 17, 2019 this sequence version replaced NM_001029865.3.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on cross-species transcript alignments.
FEATURES             Location/Qualifiers
     source          1..1242
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     gene            1..1242
                     /gene="DBX1"
                     /gene_synonym="HLX1"
                     /note="developing brain homeobox 1"
                     /db_xref="GeneID:120237"
                     /db_xref="HGNC:HGNC:33185"
                     /db_xref="MIM:619830"
     CDS             152..1183
                     /gene="DBX1"
                     /gene_synonym="HLX1"
                     /note="developing brain homeobox protein 1"
                     /codon_start=1
                     /product="homeobox protein DBX1"
                     /protein_id="NP_001025036.2"
                     /db_xref="CCDS:CCDS31443.2"
                     /db_xref="GeneID:120237"
                     /db_xref="HGNC:HGNC:33185"
                     /db_xref="MIM:619830"
                     /translation="MMFPGLLAPPAGYPSLLRPTPTLTLPQSLQSAFSGHSSFLVEDLI
                     RISRPPAYLPRSVPTASMSPPRQGAPTALTDTGASDLGSPGPGSRRGGSPPTAFSPASE
                     TTFLKFGVNAILSSGPRTETSPALLQSVPPKTFAFPYFEGSFQPFIRSSYFPASSSVVP
                     IPGTFSWPLAARGKPRRGMLRRAVFSDVQRKALEKMFQKQKYISKPDRKKLAAKLGLKD
                     SQVKIWFQNRRMKWRNSKERELLSSGGCREQTLPTKLNPHPDLSDVGQKGPGNEEEEEG
                     PGSPSHRLAYHASSDPQHLRDPRLPGPLPPSPAHSSSPGKPSDFSDSEEEEEGEEQEEI
                     TVS"
     misc_feature    317..451
                     /gene="DBX1"
                     /gene_synonym="HLX1"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMT0.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    869..1180
                     /gene="DBX1"
                     /gene_synonym="HLX1"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NMT0.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 ggaggactcg cagacgccca agtgggattg ttacttggag acgtttgcta agcccaagag
       61 agaggacact gtgggggcgg gaggggcggg aagcgaggcg tttaccctcc ggccactgaa
      121 agaagggtta tttcgcccgc ccgcgcctac catgatgttc cccggcctcc tcgcgccccc
      181 cgccgggtac cctagcctcc tgcggcccac gcccaccttg acgctgcccc agtccttgca
      241 gtcggcattt tccggccact ccagcttcct ggtggaggat ctgatccgca tcagccgacc
      301 ccccgcctac ctgccccgca gcgtgcccac cgccagcatg tcgccgccca ggcagggggc
      361 ccccacggcc ctcaccgaca cgggggcctc ggacctgggc tccccgggtc ccggcagccg
      421 acggggcggc tctccgccga ctgccttctc ccctgccagc gagacgacgt ttctgaagtt
      481 tggagtgaac gccatcctct cctcggggcc cagaacagaa acatccccag ccttgctcca
      541 gagcgtccct cccaagacct tcgcctttcc ctacttcgaa gggtcttttc agcctttcat
      601 cagatcttct tatttcccag cttcctccag cgtggtgccc atccccggga ccttctcctg
      661 gccgctggcc gcgcgcggga agcctcggcg gggcatgctg cgtcgagcag tcttctccga
      721 cgtgcagcgg aaggcgctgg agaagatgtt ccagaagcag aagtacatca gcaagcccga
      781 ccgcaagaag ctggcggcca agctgggcct gaaagactcg caggtgaaaa tctggttcca
      841 gaaccgacgc atgaaatggc ggaactccaa ggagcgcgaa ctcctgtcta gcgggggctg
      901 tcgcgagcag accctgccca ccaagctcaa tccgcacccg gacctcagcg acgtgggcca
      961 gaagggccct gggaacgaag aggaggagga gggcccgggc agccccagcc accgcctggc
     1021 ctaccacgcg tcctccgacc cccagcacct gcgggacccg cggctgccag ggccgctgcc
     1081 cccctcgccc gcgcactcga gcagtcccgg gaaaccttcg gacttctcag attccgagga
     1141 ggaagaggag ggcgaggaac aggaggaaat caccgtgtcc tagaagccgc tcgcacgcca
     1201 gagtactatt tttaagtgct ttgaaatcga agaggtgggg tc
//
LOCUS       NM_001029869            1919 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens PLAC8 like 1 (PLAC8L1), mRNA.
ACCESSION   NM_001029869
VERSION     NM_001029869.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1919)
  AUTHORS   Song WY, Hortensteiner S, Tomioka R, Lee Y and Martinoia E.
  TITLE     Common functions or only phylogenetically related? The large family
            of PLAC8 motif-containing/PCR genes
  JOURNAL   Mol Cells 31 (1), 1-7 (2011)
   PUBMED   21347707
  REMARK    Review article
REFERENCE   2  (bases 1 to 1919)
  AUTHORS   Libault M and Stacey G.
  TITLE     Evolution of FW2.2-like (FWL) and PLAC8 genes in eukaryotes
  JOURNAL   Plant Signal Behav 5 (10), 1226-1228 (2010)
   PUBMED   20855956
REFERENCE   3  (bases 1 to 1919)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N, Klika
            A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.68541.1,
            SRR5189667.380346.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000311450.9/ ENSP00000309087.4
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC091887.3 and BG198388.1.
            On Nov 23, 2018 this sequence version replaced NM_001029869.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1919
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..1919
                     /gene="PLAC8L1"
                     /note="PLAC8 like 1"
                     /db_xref="GeneID:153770"
                     /db_xref="HGNC:HGNC:31746"
     misc_feature    1153..1155
                     /gene="PLAC8L1"
                     /note="upstream in-frame stop codon"
     CDS             1267..1800
                     /gene="PLAC8L1"
                     /codon_start=1
                     /product="PLAC8-like protein 1"
                     /protein_id="NP_001025040.1"
                     /db_xref="CCDS:CCDS34264.1"
                     /db_xref="GeneID:153770"
                     /db_xref="HGNC:HGNC:31746"
                     /translation="MNWFGSNFFRCPEDLSLLNIYSPLLSHMSSEDEHFISNLRGHVPA
                     SAVVKQPVRGASGRTTITAIVQTGGGWSTGLFSVCRDRRICFCGLFCPMCLECDIARHY
                     GECLCWPLLPGSTFALRIGTRERHKIQGTLCEDWLAVHCCWAFSICQVARELKMRTSQV
                     YEICAVPMTKDTLV"
     regulatory      1900..1905
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLAC8L1"
                     /note="hexamer: AATAAA"
     polyA_site      1919
                     /gene="PLAC8L1"
                     /note="major polyA site"
ORIGIN
        1 caaagctagt aatcacctct taatttctgt tattcttata aacctgaatt ttcatgtagg
       61 gcacatttat tcaacaaatt attgagtgct ttttatgtgc cagacactgt ggtcagcact
      121 tggaatagag tagtaagcag aaaaaacata cctgtcctta atgtagggta catccttact
      181 gttaagaaga caatgacagt tgcccagaac cccatgattg aaggcagtta tgaagctatg
      241 tctgaggaat cttgatttgg aaggtattat aggcttttcc taacaacctg gttcaataaa
      301 tgctttgaag ttcagaaccc taagcaacca ttctctatgg gtctgatgaa aagaatatat
      361 gatataattg gcagtatcct cctgatgtct ttctaatgta atgtcaaatt atgattgcag
      421 agccctttcc tcaacgtgaa attttgccta attttttgtc ttaggatatt tcctaatatt
      481 tctagggtcc acacctccat aagacatgtg ccagaggcat gattcagagg ctcctgagac
      541 cttgaggatt cagagctgtt gtgaggacat caccaggcaa gccttgcttc agttactaga
      601 ttccgtctgg actgggtagg aaagaaatgc cactttcctg gcattatcaa tgaagttaat
      661 ggaagagcag agaatttcta gaagttctga aaaggctttg aggcttgtga caatctacca
      721 tagctcaaac ttgaggagac cacctttcat aagatggatt caaatacaat acctgcgctg
      781 aaagactttt ttttgctcct gcttttgggt tggctatggg acttgcatca tctggctgaa
      841 ttggaccagc agttcagggg atgaagagag gtctctgctg cttctcagtc acatggcatg
      901 gcagaaattt tcagccttct gaatcttcca aggaacggtc aagtggcact tagctagata
      961 aatgtttact agaggcatct cttaaagagt tttccaccaa agataagtct ttttcttcta
     1021 tttactctat actccagcaa tatctcccta cagattagta agatgaatgt gtccacagtt
     1081 aggtgtatac ctgtttttaa agaaaaaaga tgtctgttag ttacactgct atgacctcag
     1141 gttccagaat attaagggaa cattctttca agagatgttt cactttggac taatccgaag
     1201 tttagaaacc agcttattgc caaagggaaa aaggatagcc caaaggacaa gaaaacactt
     1261 ctcactatga attggtttgg aagtaacttc ttcaggtgtc ctgaggatct ttccttactc
     1321 aacatatact cacctctgtt gtcacacatg tcatctgaag atgaacattt tatttccaac
     1381 ttgagaggcc atgtaccagc cagcgctgtg gtgaagcagc ctgttcgggg agccagtggc
     1441 aggacgacaa tcacagcaat tgtccagact ggcgggggct ggagcaccgg tctcttcagt
     1501 gtctgcagag ataggagaat ttgtttctgt ggtctattct gtcctatgtg tcttgagtgt
     1561 gacatcgcca ggcattatgg agagtgtctt tgttggccgt tgttacctgg gtccaccttt
     1621 gcactgagaa ttggcaccag ggagagacat aaaatacagg gcacactgtg tgaagactgg
     1681 ctggcggtgc actgctgttg ggctttttcc atctgccagg tggcccggga actcaagatg
     1741 aggacctccc aagtctatga aatctgtgca gtcccaatga ctaaggacac cctggtttga
     1801 cagcaagata actcctcctc cttactcccc aacaccctcc tctcaaacct ctcagtggaa
     1861 caattgcttt ttcctaagtt tttactgaaa tggtatgaaa ataaatgatt tccccccta
//
LOCUS       NM_001029870            3993 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens sosondowah ankyrin repeat domain family member B
            (SOWAHB), mRNA.
ACCESSION   NM_001029870
VERSION     NM_001029870.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3993)
  AUTHORS   Ruan B, Feng X, Chen X, Dong Z, Wang Q, Xu K, Tian J, Liu J, Chen Z,
            Shi W, Wang M, Qian L and Ding Q.
  TITLE     Identification of a Set of Genes Improving Survival Prediction in
            Kidney Renal Clear Cell Carcinoma through Integrative Reanalysis of
            Transcriptomic Data
  JOURNAL   Dis Markers 2020, 8824717 (2020)
   PUBMED   33110456
  REMARK    GeneRIF: Identification of a Set of Genes Improving Survival
            Prediction in Kidney Renal Clear Cell Carcinoma through Integrative
            Reanalysis of Transcriptomic Data. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3993)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3993)
  AUTHORS   Boueiz A, Lutz SM, Cho MH, Hersh CP, Bowler RP, Washko GR,
            Halper-Stromberg E, Bakke P, Gulsvik A, Laird NM, Beaty TH, Coxson
            HO, Crapo JD, Silverman EK, Castaldi PJ and DeMeo DL.
  CONSRTM   COPDGene and ECLIPSE Investigators
  TITLE     Genome-Wide Association Study of the Genetic Determinants of
            Emphysema Distribution
  JOURNAL   Am J Respir Crit Care Med 195 (6), 757-771 (2017)
   PUBMED   27669027
REFERENCE   4  (bases 1 to 3993)
  AUTHORS   Maeso I, Irimia M, Tena JJ, Gonzalez-Perez E, Tran D, Ravi V,
            Venkatesh B, Campuzano S, Gomez-Skarmeta JL and Garcia-Fernandez J.
  TITLE     An ancient genomic regulatory block conserved across bilaterians and
            its dismantling in tetrapods by retrogene replacement
  JOURNAL   Genome Res 22 (4), 642-655 (2012)
   PUBMED   22234889
REFERENCE   5  (bases 1 to 3993)
  AUTHORS   Li J, Mahajan A and Tsai MD.
  TITLE     Ankyrin repeat: a unique motif mediating protein-protein
            interactions
  JOURNAL   Biochemistry 45 (51), 15168-15178 (2006)
   PUBMED   17176038
  REMARK    Review article
REFERENCE   6  (bases 1 to 3993)
  AUTHORS   Mosavi LK, Cammett TJ, Desrosiers DC and Peng ZY.
  TITLE     The ankyrin repeat as molecular architecture for protein recognition
  JOURNAL   Protein Sci 13 (6), 1435-1448 (2004)
   PUBMED   15152081
  REMARK    Review article
REFERENCE   7  (bases 1 to 3993)
  AUTHORS   Hryniewicz-Jankowska A, Czogalla A, Bok E and Sikorsk AF.
  TITLE     Ankyrins, multifunctional proteins involved in many cellular
            pathways
  JOURNAL   Folia Histochem Cytobiol 40 (3), 239-249 (2002)
   PUBMED   12219834
  REMARK    Review article
REFERENCE   8  (bases 1 to 3993)
  AUTHORS   Sedgwick SG and Smerdon SJ.
  TITLE     The ankyrin repeat: a diversity of interactions on a common
            structural framework
  JOURNAL   Trends Biochem Sci 24 (8), 311-316 (1999)
   PUBMED   10431175
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC137241.1, DRR138528.13694.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000334306.4/ ENSP00000334879.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104687.3 and BC137255.1.
            On May 17, 2019 this sequence version replaced NM_001029870.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3993
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.1"
     gene            1..3993
                     /gene="SOWAHB"
                     /gene_synonym="ANKRD56"
                     /note="sosondowah ankyrin repeat domain family member B"
                     /db_xref="GeneID:345079"
                     /db_xref="HGNC:HGNC:32958"
     misc_feature    206..208
                     /gene="SOWAHB"
                     /gene_synonym="ANKRD56"
                     /note="upstream in-frame stop codon"
     CDS             296..2677
                     /gene="SOWAHB"
                     /gene_synonym="ANKRD56"
                     /note="ankyrin repeat domain-containing protein 56; ankyrin
                     repeat domain 56; protein sosondowah homolog B"
                     /codon_start=1
                     /product="ankyrin repeat domain-containing protein SOWAHB"
                     /protein_id="NP_001025041.1"
                     /db_xref="CCDS:CCDS34017.1"
                     /db_xref="GeneID:345079"
                     /db_xref="HGNC:HGNC:32958"
                     /translation="MARELSQEALLDFLCQAGGRVTNAALLSHFKSFLRDPDASPSQHQ
                     HRRELFKGFVNSVAAVRQDPDGTKYVVLKRRYRDLLGEEGLQRPREPPAAAPSAGGAAP
                     CSPRGARRGEPPQQQPRRRRREKEPEEEPAGAAARAADAACNGLPGSDSRRAPGKGGGS
                     KGSPGQRPPVPAAAAAGAQARASCAAAKTQGRCCWECLQNNLAVLPGELGALPHSATAE
                     EKPARALPAQDDRGASREREEGALAEPAPVPAVAHSPPATVEAATSRASPPALLPGPAP
                     RGDRPELLTPSSLHYSTLQQQQQRTREWVARHPQVPEARDQGPIRAWSVLPDNFLQLPL
                     EPGSTEPNSEPPDPCLSSHSLFPVVPDESWESWAGNPSLTVFRSIRCQLSLQDLDDFVD
                     QESDGSEESSSGPKDSPGASEEGLQVVLGTPDRGKLRNPAGGLSVSRKEGSPSRSPQGL
                     RNRGDGHISQQVPAGANGLAGHPLKPLPWPVPKLRRSLRRSSLAGRAKLSSSDEEYLDE
                     GLLKRSRRPPRSRKPSKAGTAPSPRVDAGLSLKLAEVKAVVAERGWRHSLWVPSGEGSA
                     ALAPHRTSEHKSSLVPLDAREHEWIVKLASGSWIQVWTLFWEDPQLALHKDFLTGYTAL
                     HWIAKHGDLRALQDLVSGAKKAGIVLDVNVRSSCGYTPLHLAAIHGHQGVIKLLVQRLA
                     SRVNVRDSSGKKPWQYLTSNTSGEIWQLLGAPRGKPIFPVYPLVGSSSPTRKAKSKEIS
                     RSVTRKTSFAALLKSQHNKWKLANQYEKFHSPREREEYSD"
     misc_feature    542..850
                     /gene="SOWAHB"
                     /gene_synonym="ANKRD56"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NEL2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    611..613
                     /gene="SOWAHB"
                     /gene_synonym="ANKRD56"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (A6NEL2.1); phosphorylation site"
     misc_feature    950..1165
                     /gene="SOWAHB"
                     /gene_synonym="ANKRD56"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NEL2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1106..1108
                     /gene="SOWAHB"
                     /gene_synonym="ANKRD56"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (A6NEL2.1); phosphorylation site"
     misc_feature    1304..1375
                     /gene="SOWAHB"
                     /gene_synonym="ANKRD56"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NEL2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1481..1924
                     /gene="SOWAHB"
                     /gene_synonym="ANKRD56"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NEL2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2183..2272
                     /gene="SOWAHB"
                     /gene_synonym="ANKRD56"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NEL2.1);
                     Region: ANK 1"
     misc_feature    2300..2392
                     /gene="SOWAHB"
                     /gene_synonym="ANKRD56"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NEL2.1);
                     Region: ANK 2"
     misc_feature    2576..2578
                     /gene="SOWAHB"
                     /gene_synonym="ANKRD56"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BZW2; propagated from
                     UniProtKB/Swiss-Prot (A6NEL2.1); phosphorylation site"
     regulatory      3959..3964
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOWAHB"
                     /gene_synonym="ANKRD56"
                     /note="hexamer: ATTAAA"
     polyA_site      3993
                     /gene="SOWAHB"
                     /gene_synonym="ANKRD56"
                     /note="major polyA site"
ORIGIN
        1 aactttcgct gtgaggactc gttgcgagag gctagagtcg cgcaggggcg gcctcggagc
       61 cgccctctct cacgcagact gccgcgggga ctcagccttg gggccacccg gaggggaccc
      121 acggccctcc tggcgcgctc acgggctgcg ggcagcgctg gcctccgcgg ctgatggggg
      181 cggctagtgc cgccccgggc gcaggtgaca ctcgcccggc cagggtttcc tctggctggg
      241 gagagccccg ggagggcgag actcagacac ctctggggcg gaggacaagg cagcgatggc
      301 ccgagagctg agccaggagg cactactgga ctttctgtgc caggctgggg gccgcgtgac
      361 caacgctgcc ttgctgagcc acttcaagag ctttctccga gaccccgacg cgtcccccag
      421 ccagcaccag caccgccgcg agctcttcaa gggcttcgtc aactcggtcg ccgcagtgcg
      481 ccaggacccc gacggcacca agtacgtggt gctcaagagg agatacaggg accttttggg
      541 ggaggagggg ctgcagcgac cccgcgagcc gcccgcggcc gcccccagtg cagggggagc
      601 tgcgccctgc tccccgcgag gcgcgcgccg gggggagccg ccccagcagc agcccaggcg
      661 gcggcggcgc gagaaggagc cggaggagga gccagcaggt gcagcagcca gagccgccga
      721 cgcagcttgc aatggactcc cgggcagcga ctcccgtagg gcgcccggga agggcggcgg
      781 atcgaagggc agtcccggac agaggccgcc ggtgcccgca gctgcagcgg caggggccca
      841 ggcgagagcg agctgcgcgg cggcgaagac gcagggccgc tgctgctggg aatgcctcca
      901 gaacaacctg gctgtactgc cgggagagct cggcgcactc ccgcactcgg ccaccgcgga
      961 ggagaagccg gcacgggctc tgcctgccca ggatgaccgc ggggcttcca gggagcggga
     1021 agaaggcgcg ctagctgagc cggcgcctgt gcctgcagtg gctcactcgc ctcccgccac
     1081 cgtcgaggct gcgacaagca gggcttcccc gcctgctctc ctgcccggcc ccgctccccg
     1141 cggagaccgg ccggagctgc tgacccccag ctccctgcat tattcgaccc tgcagcagca
     1201 gcagcagcgc actcgagagt gggtggccag gcacccgcag gtgcccgagg cccgtgatca
     1261 gggccctatc cgcgcctggt cggtgctgcc agacaacttc ctccagctgc ccttggaacc
     1321 cggctccacg gagcctaatt cagagccgcc agacccctgt ctttcctcgc actctctctt
     1381 tcctgttgtt ccggatgagt cctgggaatc ctgggcgggg aacccttcat tgactgtctt
     1441 tcgcagcatt cgttgtcagc tgtccctcca agatctggat gactttgtgg accaggagag
     1501 tgatggcagt gaggagagca gcagtgggcc caaagactcc ccgggggctt ctgaagaggg
     1561 gctgcaggtt gtcttgggaa ccccagatag ggggaagctc aggaatccag ctgggggcct
     1621 ttctgtatct cggaaggagg gcagccccag ccggagccct cagggtctca gaaacagagg
     1681 ggatggtcac atctctcagc aggtccctgc aggggctaat ggccttgcag gccaccccct
     1741 gaagcctttg ccttggccag ttcctaagtt aaggaggtcc ctcaggagga gctctctggc
     1801 agggagagcc aaattgtcct cctctgatga ggagtacctc gatgagggct tgctgaaaag
     1861 aagtcggcgc ccacctcgat ccaggaagcc ctccaaggca ggaacggcac ccagcccaag
     1921 ggttgatgca ggtttatcac taaaacttgc agaggttaag gctgttgtgg ccgagcgggg
     1981 ttggcgacac agcctgtggg tccccagtgg ggaggggtct gcagccttgg ccccccacag
     2041 aacttctgag cacaaatcat ccctggttcc actagatgcc agggagcatg agtggattgt
     2101 gaagcttgcc agtggctcct ggattcaggt gtggactttg ttctgggagg accctcaact
     2161 ggccttgcac aaagactttt tgactgggta cactgcgttg cactggatag ccaaacatgg
     2221 tgacctcagg gcccttcagg acttggtgtc tggagcaaag aaggcaggga ttgtccttga
     2281 tgtaaacgtg aggtccagtt gtggatatac cccgctgcac cttgcagcca ttcacggcca
     2341 ccagggggtc atcaaattgc tagtgcaaag gttggcttct cgggtaaatg tcagggacag
     2401 cagtgggaag aagccatggc agtatctaac cagtaatacc tctggggaaa tatggcagct
     2461 gttgggagct cctcggggca agcccatttt ccctgtctat cccttagttg gaagttcttc
     2521 ccctaccaga aaggccaaga gcaaggaaat atctagaagt gtcacccgaa aaacttcctt
     2581 cgctgcacta ctcaaaagtc agcacaacaa gtggaaactg gccaaccagt atgagaaatt
     2641 ccacagtcca agggaaagag aagagtatag tgactgaggt gggtctctct gtccaacatg
     2701 caggcagcac tccctcatcc tgctcagtga gagaattcag ggggaataga aaagctgctg
     2761 agagttggta aagaggatgg tcgagtgaga tggtgttgac ctccctggat cttatgtcac
     2821 tacatcctgg acctcaagag ggtcatccaa gctttttgaa agctgaactc cttgactgga
     2881 gaaacctaga caagaggcgg ggccaggtgc ttgatatcta ggaggcattc ttcctcttcc
     2941 cttgccacca tggagctggg cacagtaagc catattgttt cctgaagcag gagtcccagg
     3001 ccttggctag agagggaaca gatgtctaac aaaaagagaa gcaattcgag gaattgatga
     3061 agcacaatta aaatcctctc tggctagtag ctctctggct tctgttcatt tgaagaataa
     3121 atcttggctg acagtgggaa gcaccaggtt tgaaatcaga tggctttatt tttctttttt
     3181 tggcatttaa atcagtgaaa taaaattatt actggagagc acagttcgat ttaagagatt
     3241 cctcagccct gttctcaagt cttcttttga attccatgca tggtggttaa tgggtaaaat
     3301 gattaatgcc tcctttgggt cttctcactg atcagagaag cagctgggta agatccagtt
     3361 atgacttgga ctccattcct aagaggaatg actgtcattc aggccctgct tttttgtatc
     3421 aacccgaagg gaactttcca aatgtaaaaa ccatgtggct catttacata gtgactgaaa
     3481 ccatctttca tggaaactcc ctgtgtaaca aacagaatta tcgttactag ttttcagagg
     3541 tttgaatggc caacgtttgt actcataaaa agagagaaat gatttcactc tggggaaaca
     3601 gtaagggtta agagaatgca tccttaccag gactatctaa gccgctaaat ataattgtat
     3661 ttgcactaaa cttgttgcca attaagatta aatattagcc tttaagtact ctatatctaa
     3721 catgaagtgc tcctttttaa ttgcttttga agagaccgat aacttgtgag ttcatggagt
     3781 gagaaaatgg ctagtctata aacgtcagta gagcatcaag atttcagaat aagttcaaag
     3841 agggctgaaa tacatgttca agtggaaatt gttaattttt tatgggaatg ttttcatgag
     3901 atgtgacaat gatgctgtat tttaagtctt tttgtgtttc ttctggttat ttgcccccat
     3961 taaaagatca atagatcttt ataatttatt ata
//
LOCUS       NM_001029871            2757 bp    mRNA    linear   PRI 26-MAR-2023
DEFINITION  Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.
ACCESSION   NM_001029871
VERSION     NM_001029871.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2757)
  AUTHORS   Chopra A, Song J, Weiner J 3rd, Keceli HG, Dincer PR, Cruz R,
            Carracedo A, Blanco J, Dommisch H and Schaefer AS.
  TITLE     RSPO4 is a potential risk gene of stages III-IV, grade C
            periodontitis through effects on innate immune response and oral
            barrier integrity
  JOURNAL   J Clin Periodontol 50 (4), 476-486 (2023)
   PUBMED   36507580
  REMARK    GeneRIF: RSPO4 is a potential risk gene of stages III-IV, grade C
            periodontitis through effects on innate immune response and oral
            barrier integrity.
REFERENCE   2  (bases 1 to 2757)
  AUTHORS   Kim HJ, Shim JH, Park JH, Shin HT, Shim JS, Jang KT, Park WY, Lee
            KH, Kwon EJ, Jang HS, Yang H, Lee JH, Yang JM and Lee D.
  TITLE     Single-cell RNA sequencing of human nail unit defines RSPO4
            onychofibroblasts and SPINK6 nail epithelium
  JOURNAL   Commun Biol 4 (1), 692 (2021)
   PUBMED   34099859
  REMARK    GeneRIF: Single-cell RNA sequencing of human nail unit defines RSPO4
            onychofibroblasts and SPINK6 nail epithelium. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 2757)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2757)
  AUTHORS   Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefevre C, Khatoo M,
            Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de
            Sousa SB, Karaman B, Latypova X, Basaran S, Yucel EB, Tan TT,
            Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova
            N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H and Reversade B.
  TITLE     RSPO2 inhibition of RNF43 and ZNRF3 governs limb development
            independently of LGR4/5/6
  JOURNAL   Nature 557 (7706), 564-569 (2018)
   PUBMED   29769720
  REMARK    Erratum:[Nature. 2018 Sep;561(7722):E7. PMID: 29977062]
REFERENCE   5  (bases 1 to 2757)
  AUTHORS   Arenas E.
  TITLE     Wnt signaling in midbrain dopaminergic neuron development and
            regenerative medicine for Parkinson's disease
  JOURNAL   J Mol Cell Biol 6 (1), 42-53 (2014)
   PUBMED   24431302
  REMARK    Review article
REFERENCE   6  (bases 1 to 2757)
  AUTHORS   Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, Nam
            JS, Yoon JK, Kelsell DP and Christiano AM.
  TITLE     Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia
  JOURNAL   J Invest Dermatol 128 (4), 867-870 (2008)
   PUBMED   17805348
  REMARK    GeneRIF: These findings expand our understanding of the role of
            RSPO4 in nail development and disease.
REFERENCE   7  (bases 1 to 2757)
  AUTHORS   Seitz,C.S., van Steensel,M., Frank,J., Senderek,J., Zerres,K.,
            Hamm,H. and Bergmann,C.
  TITLE     The Wnt signalling ligand RSPO4, causing inherited anonychia, is not
            mutated in a patient with congenital nail hypoplasia/aplasia with
            underlying skeletal defects
  JOURNAL   Br J Dermatol 157 (4), 801-802 (2007)
   PUBMED   17596144
REFERENCE   8  (bases 1 to 2757)
  AUTHORS   Bergmann C, Senderek J, Anhuf D, Thiel CT, Ekici AB,
            Poblete-Gutierrez P, van Steensel M, Seelow D, Nurnberg G, Schild
            HH, Nurnberg P, Reis A, Frank J and Zerres K.
  TITLE     Mutations in the gene encoding the Wnt-signaling component R-spondin
            4 (RSPO4) cause autosomal recessive anonychia
  JOURNAL   Am J Hum Genet 79 (6), 1105-1109 (2006)
   PUBMED   17186469
REFERENCE   9  (bases 1 to 2757)
  AUTHORS   Blaydon DC, Ishii Y, O'Toole EA, Unsworth HC, Teh MT, Ruschendorf F,
            Sinclair C, Hopsu-Havu VK, Tidman N, Moss C, Watson R, de Berker D,
            Wajid M, Christiano AM and Kelsell DP.
  TITLE     The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated
            in Wnt signaling, is mutated in inherited anonychia
  JOURNAL   Nat Genet 38 (11), 1245-1247 (2006)
   PUBMED   17041604
  REMARK    GeneRIF: RSPO4 has a crucial role in nail morphogenesis.
REFERENCE   10  (bases 1 to 2757)
  AUTHORS   Kim KA, Zhao J, Andarmani S, Kakitani M, Oshima T, Binnerts ME, Abo
            A, Tomizuka K and Funk WD.
  TITLE     R-Spondin proteins: a novel link to beta-catenin activation
  JOURNAL   Cell Cycle 5 (1), 23-26 (2006)
   PUBMED   16357527
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK122609.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142363,
            SAMEA2145893 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000217260.9/ ENSP00000217260.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL050325.20, AK122609.1 and
            BQ185331.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001029871.3.
            Summary: This gene encodes a member of the R-spondin family of
            proteins that share a common domain organization consisting of a
            signal peptide, cysteine-rich/furin-like domain, thrombospondin
            domain and a C-terminal basic region. The encoded protein may be
            involved in activation of Wnt/beta-catenin signaling pathways.
            Mutations in this gene are associated with anonychia congenital.
            Alternate splicing results in multiple transcript
            variants.[provided by RefSeq, Sep 2009].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2757
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..2757
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /note="R-spondin 4"
                     /db_xref="GeneID:343637"
                     /db_xref="HGNC:HGNC:16175"
                     /db_xref="MIM:610573"
     CDS             148..852
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; R-spondin family, member 4; roof plate-specific
                     spondin-4; hRspo4"
                     /codon_start=1
                     /product="R-spondin-4 isoform 1 precursor"
                     /protein_id="NP_001025042.2"
                     /db_xref="CCDS:CCDS42846.1"
                     /db_xref="GeneID:343637"
                     /db_xref="HGNC:HGNC:16175"
                     /db_xref="MIM:610573"
                     /translation="MRAPLCLLLLVAHAVDMLALNRRKKQVGTGLGGNCTGCIICSEEN
                     GCSTCQQRLFLFIRREGIRQYGKCLHDCPPGYFGIRGQEVNRCKKCGATCESCFSQDFC
                     IRCKRQFYLYKGKCLPTCPPGTLAHQNTRECQGECELGPWGGWSPCTHNGKTCGSAWGL
                     ESRVREAGRAGHEEAATCQVLSESRKCPIQRPCPGERSPGQKKGRKDRRPRKDRKLDRR
                     LDVRPRQPGLQP"
     sig_peptide     148..204
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     205..849
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /product="R-spondin-4 isoform 1"
     misc_feature    247..249
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q2I0M5.2); glycosylation site"
     misc_feature    400..531
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2I0M5.2);
                     Region: FU"
     misc_feature    715..849
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2I0M5.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2733..2738
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /note="hexamer: AATAAA"
     polyA_site      2757
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /note="major polyA site"
ORIGIN
        1 agacctggcg gccggaccga cccgcgcctg gcggatgcgc ccggcgcgcc cacagcagcc
       61 cccgcgcccg ccgtgccgcc gccgggacgt ggggcccttg ggccgtcggg ccgcctgggg
      121 agcgccagcc cggatccggc tgcccagatg cgggcgccac tctgcctgct cctgctcgtc
      181 gcccacgccg tggacatgct cgccctgaac cgaaggaaga agcaagtggg cactggcctg
      241 gggggcaact gcacaggctg tatcatctgc tcagaggaga acggctgttc cacctgccag
      301 cagaggctct tcctgttcat ccgccgggaa ggcatccgcc agtacggcaa gtgcctgcac
      361 gactgtcccc ctgggtactt cggcatccgc ggccaggagg tcaacaggtg caaaaaatgt
      421 ggggccactt gtgagagctg cttcagccag gacttctgca tccggtgcaa gaggcagttt
      481 tacttgtaca aggggaagtg tctgcccacc tgcccgccgg gcactttggc ccaccagaac
      541 acacgggagt gccaggggga gtgtgaactg ggtccctggg gcggctggag cccctgcaca
      601 cacaatggaa agacctgcgg ctcggcttgg ggcctggaga gccgggtacg agaggctggc
      661 cgggctgggc atgaggaggc agccacctgc caggtgcttt ctgagtcaag gaaatgtccc
      721 atccagaggc cctgcccagg agagaggagc cccggccaga agaagggcag gaaggaccgg
      781 cgcccacgca aggacaggaa gctggaccgc aggctggacg tgaggccgcg ccagcccggc
      841 ctgcagccct gaccgccggc tctcccgact ctctggtcct agtcctcggc ccctgcacac
      901 ctcctcctgc tccttctcct cctctcctct tactctttct cctctgtctt ctccatttgt
      961 cctctctttc tttccaccct tctatcattt ttctgtcagt ctaccttccc tttctttttc
     1021 ttttttattt cctttatttc ttccacctcc attctcctct cctttctccc tccctccttc
     1081 ccttccttcc tcttctttct cacttatctt ttatctttcc ttttctttct tcctgtgttt
     1141 cttcctgtcc ttcaccgcat ccttctctct ctccctcctc ttgtctccct ctcacacaca
     1201 ctttaagagg gaccatgagc ctgtgccctc ccctgcagct ttctctatct acaacttaaa
     1261 gaaagcaaac atcttttccc aggcctttcc ctgaccccat ctttgcagag aaagggtttc
     1321 cagagggcaa agctgggaca cagcacaggt gaatcctgaa ggccctgctt ctgctctggg
     1381 ggaggctcca ggaccctgag ctgtgagcac ctggttctct ggacagtccc cagaggccat
     1441 ttccacagcc ttcagccacc agccaccccg aggagctggc tggacaaggc tccagggctt
     1501 ccagaggcct ggcttggaca cctcccccag ctggccgtgg agggtcacaa cctggcctct
     1561 gggtgggcag ccagccctgg agggcatcct ctgcaagctg cctgccaccc tcatcggcac
     1621 tcccccacag gcctccctct catgggttcc atgccccttt ttcccaagcc ggatcaggtg
     1681 agctgtcact gctgggggat ccacctgccc agcccagaag aggccactga aacggaaagg
     1741 aaagctgaga ttatccagca gctctgttcc ccacctcagc gcttcctgcc catgtgggga
     1801 aacaggtctg agaaggaagg ggcttgccca gggtcacaca ggaagccttc aggctctgct
     1861 tctgcctgat ggctctgctc agcacattca cggtggagag gagaatttgg gggtcacttg
     1921 aggggggaaa tgtagggaat tgtgggtggg gagcaaggga agatccgtgc actcgtccac
     1981 acccaccacc acactcgctg acacccaccc ccacacgctg acacccaccc ccacacttgc
     2041 ccacacccat caccgcactc gcccacaccc accaccacac tgccccacac ccaccaccac
     2101 actcccccac acccaccacc acactcgccc acacccacca ccagtgactt gagcatctgt
     2161 gcttcgctgt gacgcccctc gccctaggca ggaacgacgc tgggaggagt ctccaggtca
     2221 gacccagctt ggaagcaagt ctgtcctcac tgcctatcct tctgccatca taacaccccc
     2281 ttcctgctct gctccccgga atcctcagaa acgggatttg tatttgccgt gactggttgg
     2341 cctgaacacg tagggctccg tgactgggac aggaatgggc aggagaagca agagtcggag
     2401 ctccaagggg cccaggggtg gcctggggaa ggaagatggt cagcaggctg ggggagaggc
     2461 tctaggtgat gaaatattac attcccgacc ccaagagagc acccaccctc agacctgccc
     2521 tccacctggc agctggggag ccctggcctg aacccccccc tcccagcagg cccaccctct
     2581 ctctgacttc cctgctctca cctccccgag aacagctaga gccccctcct ccgcctggcc
     2641 aggccaccag cttctcttct gcaaacgttt gtgcctctga aatgctccgt tgttattgtt
     2701 tcaagaccct aacttttttt taaaactttc ttaataaagg gaaaagaaac ttgtaaa
//
LOCUS       NM_001029874            1150 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens RAB15 effector protein (REP15), mRNA.
ACCESSION   NM_001029874
VERSION     NM_001029874.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1150)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1150)
  AUTHORS   Strick DJ and Elferink LA.
  TITLE     Rab15 effector protein: a novel protein for receptor recycling from
            the endocytic recycling compartment
  JOURNAL   Mol Biol Cell 16 (12), 5699-5709 (2005)
   PUBMED   16195351
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: SRR1803611.34150.1, BC140921.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000310791.4/ ENSP00000310335.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009509.7.
            On May 17, 2019 this sequence version replaced NM_001029874.2.
            Summary: The protein encoded by this intronless gene interacts with
            GTP-bound Rab15 and is involved in recycling of transferrin
            receptor from the endocytic recycling compartment to the cell
            surface. [provided by RefSeq, Sep 2016].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1150
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.22"
     gene            1..1150
                     /gene="REP15"
                     /gene_synonym="RAB15EP"
                     /note="RAB15 effector protein"
                     /db_xref="GeneID:387849"
                     /db_xref="HGNC:HGNC:33748"
                     /db_xref="MIM:610848"
     misc_feature    96..98
                     /gene="REP15"
                     /gene_synonym="RAB15EP"
                     /note="upstream in-frame stop codon"
     CDS             117..827
                     /gene="REP15"
                     /gene_synonym="RAB15EP"
                     /codon_start=1
                     /product="rab15 effector protein"
                     /protein_id="NP_001025045.3"
                     /db_xref="CCDS:CCDS31762.1"
                     /db_xref="GeneID:387849"
                     /db_xref="HGNC:HGNC:33748"
                     /db_xref="MIM:610848"
                     /translation="MGQKASQQLALKDSKEVPVVCEVVSEAIVHAAQKLKEYLGFEYPP
                     SKLCPAANTLNEIFLIHFITFCQEKGVDEWLTTTKMTKHQAFLFGADWIWTFWGSNKQI
                     KLQLAVQTLQMSSPPPVESKPCDLSNPESRVEESSWKKSRFDKLEEFCNLIGEDCLGLF
                     IIFGMPGKPKDIRGVVLDSVKSQMVRSHLPGGKAVAQFVLETEDCVFIKELLRNCLSKK
                     DGLREVGKVYISIL"
     regulatory      865..870
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REP15"
                     /gene_synonym="RAB15EP"
                     /note="hexamer: AAGAAA"
     polyA_site      889
                     /gene="REP15"
                     /gene_synonym="RAB15EP"
                     /note="major polyA site"
ORIGIN
        1 gtagagttag aaaaacatga accattaaca gatgtggcct ccctgcagaa cttttacttt
       61 gaaaaagaag tacgtctgaa ccagattcac atgtttgata tttggatgca gagaaaatgg
      121 ggcagaaagc atcgcaacag ttggctctga aggacagcaa agaggtgccc gtcgtctgtg
      181 aggtggtcag tgaagctata gtccatgcag ctcagaaact gaaggagtac cttggatttg
      241 aatatcctcc aagtaaactc tgcccagctg caaatactct gaatgagatc ttcttaatcc
      301 atttcatcac tttctgccaa gaaaagggag ttgatgagtg gctgaccacc accaagatga
      361 ccaagcacca agccttcctg tttggtgcag actggatttg gaccttttgg ggatccaaca
      421 agcaaataaa gcttcagctc gcagtacaga ctctgcagat gtcttcacct cctcctgtgg
      481 aatctaagcc ttgtgacctt tccaatccag aatcaagggt agaggagtct tcctggaaga
      541 aaagtagatt tgataagctg gaagaattct gtaacttaat aggagaggat tgcctgggtc
      601 tgtttatcat ctttggtatg ccaggaaagc ctaaagacat caggggagtt gtcctggaca
      661 gtgtcaaaag tcagatggtg aggagccatc tgccaggagg gaaggctgtg gctcagtttg
      721 tcctggaaac tgaagattgt gtgttcatca aagagctgct cagaaattgt ctgagtaaga
      781 aagacgggct gagagaggtg ggcaaggttt atatcagcat tctctgactt ggatatgtat
      841 tatgtgagtg gcctgtaaga ggaaaagaaa aaaagattct aataagcaag ctcacctatt
      901 tgcatcattc cagcatggga ttttttttca tttgttttcc cattgattga aaatgattac
      961 tgggatcaaa gtacattcat gtcgcaatta cagagagaga gagaaaaaaa gaaaaccctg
     1021 gctctgccta tgatttaaaa acagttcagg aaaagttata atttagttta atatttcatt
     1081 cacttattca ataataaaaa tggaagagag ataataaagt cacatttaaa gtttgatttg
     1141 caaaaaaaaa
//
LOCUS       NM_001029875            4451 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens regulator of G protein signaling 7 binding protein
            (RGS7BP), transcript variant 1, mRNA.
ACCESSION   NM_001029875
VERSION     NM_001029875.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4451)
  AUTHORS   Patil DN, Rangarajan ES, Novick SJ, Pascal BD, Kojetin DJ, Griffin
            PR, Izard T and Martemyanov KA.
  TITLE     Structural organization of a major neuronal G protein regulator, the
            RGS7-Gbeta5-R7BP complex
  JOURNAL   Elife 7, e42150 (2018)
   PUBMED   30540250
  REMARK    GeneRIF: Data mapped differences in deuterium exchange between the
            regulator of G protein signaling 7 (RGS7)-Gbeta5
            protein(Gbeta5)-RGS7 family binding protein (R7BP) trimer and the
            RGS7-Gbeta5 dimer. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4451)
  AUTHORS   Scherer SL, Cain MD, Kanai SM, Kaltenbronn KM and Blumer KJ.
  TITLE     Regulation of neurite morphogenesis by interaction between R7
            regulator of G protein signaling complexes and G protein subunit
            Galpha13
  JOURNAL   J Biol Chem 292 (24), 9906-9918 (2017)
   PUBMED   28432124
  REMARK    GeneRIF: Data (including data from studies using transgenic mice)
            suggest that R7BP-RGS7 heterotrimers interact with Galpha13 to
            augment signaling pathways in neurons that regulate neurite
            morphogenesis. (R7BP = RGS7 family binding protein; RGS7 = regulator
            of G-protein signaling 7 protein; Galpha13 = GTP-binding protein
            alpha subunit 13)
REFERENCE   3  (bases 1 to 4451)
  AUTHORS   Tayou J, Wang Q, Jang GF, Pronin AN, Orlandi C, Martemyanov KA,
            Crabb JW and Slepak VZ.
  TITLE     Regulator of G Protein Signaling 7 (RGS7) Can Exist in a
            Homo-oligomeric Form That Is Regulated by Galphao and R7-binding
            Protein
  JOURNAL   J Biol Chem 291 (17), 9133-9147 (2016)
   PUBMED   26895961
  REMARK    GeneRIF: R7-binding protein had a strong inhibitory effect on
            homo-oligomerization of RGS7.
REFERENCE   4  (bases 1 to 4451)
  AUTHORS   Lee EH, Park BL, Park SM, Lee SH, Park SW, Park JS, Uh ST, Kim MK,
            Choi IS, Cho SH, Hong CS, Lee JY, Choi BW, Shin HD and Park CS.
  TITLE     Association analysis of RGS7BP gene polymorphisms with aspirin
            intolerance in asthmatic patients
  JOURNAL   Ann Allergy Asthma Immunol 106 (4), 292-300 (2011)
   PUBMED   21457877
  REMARK    GeneRIF: BL3-ht2 of RGS7BP may be an important genetic variant
            associated with AERD. The haplotype of block 3 may play a protective
            role against aspirin hypersensitivity in asthma, perhaps by altering
            the responsiveness of muscarinic receptors.
REFERENCE   5  (bases 1 to 4451)
  AUTHORS   Saleem Y and Kim KS.
  TITLE     RGS11 interacts preferentially with R7BP over
            Galpha(oa)--characterization of Gbeta5-free RGS11
  JOURNAL   Biochem Biophys Res Commun 386 (1), 65-70 (2009)
   PUBMED   19497306
  REMARK    GeneRIF: the successful purification of functionally intact
            Gbeta5-free recombinant RGS11 was reported that differentially
            interact with R7BP and Galpha(oa).
REFERENCE   6  (bases 1 to 4451)
  AUTHORS   Jayaraman M, Zhou H, Jia L, Cain MD and Blumer KJ.
  TITLE     R9AP and R7BP: traffic cops for the RGS7 family in phototransduction
            and neuronal GPCR signaling
  JOURNAL   Trends Pharmacol Sci 30 (1), 17-24 (2009)
   PUBMED   19042037
  REMARK    Review article
REFERENCE   7  (bases 1 to 4451)
  AUTHORS   Drenan RM, Doupnik CA, Jayaraman M, Buchwalter AL, Kaltenbronn KM,
            Huettner JE, Linder ME and Blumer KJ.
  TITLE     R7BP augments the function of RGS7*Gbeta5 complexes by a plasma
            membrane-targeting mechanism
  JOURNAL   J Biol Chem 281 (38), 28222-28231 (2006)
   PUBMED   16867977
  REMARK    GeneRIF: cytoplasmic RGS7*Gbeta5*R7BP heterotrimers and RGS7*Gbeta5
            heterodimers are equivalently inefficient regulators of G
            protein-coupled receptor signaling relative to plasma membrane-bound
            heterotrimers bearing palmitoylated R7BP.
REFERENCE   8  (bases 1 to 4451)
  AUTHORS   Martemyanov KA, Yoo PJ, Skiba NP and Arshavsky VY.
  TITLE     R7BP, a novel neuronal protein interacting with RGS proteins of the
            R7 family
  JOURNAL   J Biol Chem 280 (7), 5133-5136 (2005)
   PUBMED   15632198
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.263544.1,
            SRR1660807.186953.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000334025.3/ ENSP00000334851.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA404068.1, AK296443.1,
            AC008854.3 and BX640900.1.
            On May 17, 2019 this sequence version replaced NM_001029875.2.
            Summary: This gene encodes a protein that binds to all members of
            the R7 subfamily of regulators of G protein signaling and regulates
            their translocation between the nucleus and the plasma membrane.
            The encoded protein could be regulated by reversible
            palmitoylation, which anchors it to the plasma membrane.
            Depalmitoylation localizes the protein to the nucleus.
            Polymorphisms in this gene may be associated with risk of
            aspirin-exacerbated respiratory disease. Alternatively spliced
            transcript variants encoding multiple isoforms have been observed
            for this gene. [provided by RefSeq, Dec 2012].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
FEATURES             Location/Qualifiers
     source          1..4451
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q12.3"
     gene            1..4451
                     /gene="RGS7BP"
                     /gene_synonym="R7BP"
                     /note="regulator of G protein signaling 7 binding protein"
                     /db_xref="GeneID:401190"
                     /db_xref="HGNC:HGNC:23271"
                     /db_xref="MIM:610890"
     misc_feature    455..457
                     /gene="RGS7BP"
                     /gene_synonym="R7BP"
                     /note="upstream in-frame stop codon"
     CDS             611..1384
                     /gene="RGS7BP"
                     /gene_synonym="R7BP"
                     /note="isoform 1 is encoded by transcript variant 1; R7
                     family-binding protein"
                     /codon_start=1
                     /product="regulator of G-protein signaling 7-binding
                     protein isoform 1"
                     /protein_id="NP_001025046.1"
                     /db_xref="CCDS:CCDS34170.1"
                     /db_xref="GeneID:401190"
                     /db_xref="HGNC:HGNC:23271"
                     /db_xref="MIM:610890"
                     /translation="MSSAPNGRKKRPSRSTRSSIFQISKPPLQSGDWERRGSGSESAHK
                     TQRALDDCKMLVQEFNTQVALYRELVISIGDVSVSCPSLRAEMHKTRTKGCEMARQAHQ
                     KLAAISGPEDGEIHPEICRLYIQLQCCLEMYTTEMLKSICLLGSLQFHRKGKEPGGGTK
                     SLDCKIEESAETPALEDSSSSPVDSQQHSWQVSTDIENTERDMREMKNLLSKLRETMPL
                     PLKNQDDSSLLNLTPYPLVRRRKRRFFGLCCLISS"
     misc_feature    611..745
                     /gene="RGS7BP"
                     /gene_synonym="R7BP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6MZT1.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1130..1198
                     /gene="RGS7BP"
                     /gene_synonym="R7BP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6MZT1.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1334..1351
                     /gene="RGS7BP"
                     /gene_synonym="R7BP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6MZT1.3);
                     Region: Nuclear localization signal. /evidence=ECO:0000250"
     regulatory      2307..2312
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RGS7BP"
                     /gene_synonym="R7BP"
                     /note="hexamer: AATAAA"
     polyA_site      2330
                     /gene="RGS7BP"
                     /gene_synonym="R7BP"
     regulatory      2503..2508
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RGS7BP"
                     /gene_synonym="R7BP"
                     /note="hexamer: ACTAAA"
     polyA_site      2526
                     /gene="RGS7BP"
                     /gene_synonym="R7BP"
                     /note="major polyA site"
     regulatory      3638..3643
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RGS7BP"
                     /gene_synonym="R7BP"
                     /note="hexamer: AATAAA"
     polyA_site      3660
                     /gene="RGS7BP"
                     /gene_synonym="R7BP"
     regulatory      4286..4291
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RGS7BP"
                     /gene_synonym="R7BP"
                     /note="hexamer: AATAAA"
     polyA_site      4307
                     /gene="RGS7BP"
                     /gene_synonym="R7BP"
ORIGIN
        1 agtcccgcca cagattcatc tgggatcttc aaacagacaa gcccttagag acgagggatc
       61 aaggcagccg attagagcca attgcttgct ttggggacgg ccagtccttc caggcctggc
      121 gacagtggag ggaggggaaa gacgaaccga gtgccgctgc gggaagacac tgaagcaaga
      181 gcgacacccc tttccgcccc ccaccttgca gcgcaggctt tgaaagctgc tcccccacct
      241 gaatggaaac tcggaaccgc cgggcggcgc gttccttctc gcccagcctt gcaatccatg
      301 ccgagaggaa ggcagtgcga gcccgcgcca gcgcccagct cccgggacag ggtcggcaat
      361 gctgctgagc agaacttgat cgcgctcctt cctcgctgct agtggaagcg atgctgcacg
      421 gcacagctag cgcttccccg gctctccttc aagctgaagg ttaccgaccc gcgcagccag
      481 ccccagcact gtgagctgcg cgcctcaggt ccgggctccg gctgcttggc ggcggcgccc
      541 agggcaacaa ccgggccgcc cgcgccgggg cgcactgcac cagcggcttc ggcttggtgg
      601 atgtgtatgc atgagttctg caccgaatgg gcgcaaaaag cgccccagcc ggtccacccg
      661 ctcctcgatc ttccagatca gcaagccccc gctgcagagc ggagattggg agcgcagggg
      721 cagcggctcc gagagcgccc acaaaaccca acgagccctg gacgactgca agatgcttgt
      781 ccaagagttc aacacacaag tggccctgta ccgagagctg gtcatttcta ttggggatgt
      841 ctcggtcagc tgcccctcac tccgggcgga aatgcacaag acaagaacca aaggctgtga
      901 aatggcccgt caggcacacc aaaaattggc tgccatctca ggcccggaag atggtgagat
      961 ccatccagaa atctgtcggc tttacatcca gctgcagtgc tgcttagaaa tgtataccac
     1021 agagatgcta aaatccatat gtctgctggg gtctcttcag tttcatcgaa aaggaaagga
     1081 acctggcggg ggaaccaaga gtttggattg caaaattgag gagagtgctg aaacacctgc
     1141 cctagaagac tcctcatcat cccccgtaga tagtcagcaa cattcctggc aggtttccac
     1201 agacattgag aacactgaaa gagacatgag agaaatgaaa aaccttttaa gcaaactcag
     1261 ggaaactatg cctttaccat tgaaaaatca agatgacagc agccttctga atctaactcc
     1321 ctaccccctg gtgagaagac ggaagagaag gttctttggg ctgtgttgtc tcatctcaag
     1381 ctaggtggct cctcctggaa acccactgag aacatctgaa aaaaaatcac aaaacccgag
     1441 gacctccaga cagctgaacc acacagttat tggtttttga ctatgttttc tatgcttcct
     1501 tattactttt atctgcctcc ccctgccctt ttaaatgatt ttacacttga aagcagctgc
     1561 cgtcaagaaa aaaaagaaca gattcaaaaa ccaggctgtt tttaaaaggg aattttaaag
     1621 ctgacattgt gcatgtctgc tccaaaccac gccatgacag atgcaagaat tatgattttt
     1681 aaattattta aaggtttttt aaatgtatta tacagaggaa aaatatttca catataatag
     1741 tatatctata gctcttgctg atctcatgtt aaaatttatc gtatatgaaa gaagtcttta
     1801 aacatagaaa tctatttaaa actgaaaaac tgtgttcaaa aatccaatct atcaatatca
     1861 ttagaaataa tattataagc aaacatatac cacctcacct attgctttct ctgcactcat
     1921 ttacatttag tcttccattc tgtcagaatc taagagcttc aacataaaag tatcttaatt
     1981 tataaagcaa caaaaaccac atatgaaaag tactaaaatt ttgtaaatac acaataatcc
     2041 taataccttc gtacaaatgc atatgggcaa ctaatttctt tttgatccaa tgatgtcttt
     2101 ttcagcttct tggagaatga agtaatccag ttaggaaatg gtgtagtaac atatacaatt
     2161 gccctcaaat gtaaaatcaa atattattac attttgttct aattgaaatc tgaagcatgg
     2221 tgtctgcaca tcagcatagt gttaaatctt atagggcatg ctggaattag ctcagattat
     2281 aaaaatattt aacattttac attgttaata aagtttttta gttaagctaa gcttgtctca
     2341 ttttagatga ctatgcagat aagatttttc caacgtgtac ttggtgtctt gtcttatgct
     2401 tagactcttg aaagcaggac acattaagca atactatatt ttagaaagga ggaagccaca
     2461 tgctttgttt ttctgctcac agctttgttg tgatcttcct tcactaaact tgtaacatgg
     2521 tacaaatttt gttataccgt ctcctgttct tcctttggcc catttcccag acagaatttc
     2581 ccatgggttg agagatcaag tctttgcact ttttttcttg ttttccatag tctgaaaaac
     2641 cttcaagtca gacaggaggc accagtgtcc agtacaatag aaggatgagc tagatgccga
     2701 taagtggttt atccaagaca catctttagt cccaaccctg ttctttacca atacttatgt
     2761 gcacaggcat ttatatgtat accaatattt ttacctaaaa actaaatata ttaaggcctt
     2821 ttgctttagt gaagatgaac tactgtaata attattgtat taggttgaat tatatgaaat
     2881 ttcctatatg tgactgtttt gacctacaaa atggcaattt cttatagttc accctaatat
     2941 ccaatgtgga aattatactt ggaattgtct tctagctctt ttgattgaaa gtgaaagaat
     3001 taaagggttg gaagagaacg ttatacaggt ctctatttag atcataccag ctggtttttg
     3061 gccttattct ttgaatctag agttgtgttc caaggaacca gtaattaatg catggttata
     3121 ggtatacctg gcttcaaaaa aaagaagtag ccgtggaaag ctatatgaga aaatcacaat
     3181 tttctgaatc aaatatttgt aaaacaattt ggctatttaa agactcttag ggtaaatact
     3241 ccctggaaaa gcaagcaatc cagacttatc tggtctgcaa accttgattt cagcttaata
     3301 tcctttcctg aatctaattc attttcaccc actaaggtca tttcatttaa gatccattgt
     3361 ttttgaaatt ttgaagtagc ccagtttggc agctctcagc acctgcctct gccctctcct
     3421 atacttcaac tatattgaac tctagcttca atctagttcc tactaatcca tgcaaaagtt
     3481 attaactgat aagcccaatc ttgttcagca cgttcttcta aatgcctgac ctaaataact
     3541 tctgcttggt taacttgtgt tcattctcac cttagcctca gtgtgaaagt aacacttacc
     3601 ttctgtgcaa ttgtcctttg tacaactgaa gactgttaat aaattcaggt ctcacctcca
     3661 tgtctgaaaa ggctatagta gctattcatg gagatgggaa tttgtctaat tacctagcca
     3721 gagtttgcat atttaaggta atatattcag ctaccgtatc ttttattcat agtgcctgtt
     3781 ttccagcctt tgatcagttt tgtagttccc gtggataaac tccaagatct aaagatcctc
     3841 tttcagtagc atatactaaa attaagttta gtgctcaaaa ccctggtaac ctacactggc
     3901 ccaaggttac agtaggtaat tcaccgtctc acattagaca ggccaatgca tcccttagga
     3961 gctgccccac tctcctctca cctaccaaag gattttctca ggtgtggttc caagcgataa
     4021 agttctactg tctcggcttc ctgctggtaa ttcgctttca gattagcaat aacactgagc
     4081 tgatctctag ggttaagaag agaacattga actcattttg tcgcatgtac ccacaggctt
     4141 gaaacagaaa atgatgtaaa cttttgtggc atacattcac ccattttccc accatatctt
     4201 tactatcctg tgttgatttt tttttcaaat tacaaagaca atacatgttc tttgtgggaa
     4261 atctgaaaaa tactaccaaa tagaaaataa aaatcacctg aattccacca cgaccacatt
     4321 gtttaaaacc acatttctgg gttttaaatc agtcagtggc tgggcccaaa ggcacttttg
     4381 ggtaagataa gtgaagaaat gcccacaagg ccaaggtgtc acttaaaaaa acaaacaaaa
     4441 aaaacaagcc a
//
LOCUS       NM_001029881             768 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens calcium and integrin binding family member 4 (CIB4),
            mRNA.
ACCESSION   NM_001029881
VERSION     NM_001029881.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 768)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 768)
  AUTHORS   Huang H, Bogstie JN and Vogel HJ.
  TITLE     Biophysical and structural studies of the human calcium- and
            integrin-binding protein family: understanding their functional
            similarities and differences
  JOURNAL   Biochem Cell Biol 90 (5), 646-656 (2012)
   PUBMED   22779914
  REMARK    GeneRIF: CIB4, as binding partners for the integrin alphaIIb
            subunit, which suggests that they are potentially involved in
            regulating integrin alphaIIb subunit activation.
REFERENCE   3  (bases 1 to 768)
  AUTHORS   Divaris K, Monda KL, North KE, Olshan AF, Lange EM, Moss K, Barros
            SP, Beck JD and Offenbacher S.
  TITLE     Genome-wide association study of periodontal pathogen colonization
  JOURNAL   J Dent Res 91 (7 Suppl), 21S-28S (2012)
   PUBMED   22699663
REFERENCE   4  (bases 1 to 768)
  AUTHORS   Gentry HR, Singer AU, Betts L, Yang C, Ferrara JD, Sondek J and
            Parise LV.
  TITLE     Structural and biochemical characterization of CIB1 delineates a new
            family of EF-hand-containing proteins
  JOURNAL   J Biol Chem 280 (9), 8407-8415 (2005)
   PUBMED   15574431
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.395462.1,
            SRR5189658.11248.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145240 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000288861.5/ ENSP00000288861.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC127684.1, AC015977.9 and AW138422.1.
            On Nov 22, 2018 this sequence version replaced NM_001029881.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..768
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..768
                     /gene="CIB4"
                     /gene_synonym="KIP4"
                     /note="calcium and integrin binding family member 4"
                     /db_xref="GeneID:130106"
                     /db_xref="HGNC:HGNC:33703"
                     /db_xref="MIM:610646"
     misc_feature    14..16
                     /gene="CIB4"
                     /gene_synonym="KIP4"
                     /note="upstream in-frame stop codon"
     CDS             53..610
                     /gene="CIB4"
                     /gene_synonym="KIP4"
                     /codon_start=1
                     /product="calcium and integrin-binding family member 4"
                     /protein_id="NP_001025052.1"
                     /db_xref="CCDS:CCDS33160.1"
                     /db_xref="GeneID:130106"
                     /db_xref="HGNC:HGNC:33703"
                     /db_xref="MIM:610646"
                     /translation="MGQCLRYQMHWEDLEEYQALTFLTRNEILCIHDTFLKLCPPGKYY
                     KEATLTMDQVSSLPALRVNPFRDRICRVFSHKGMFSFEDVLGMASVFSEQACPSLKIEY
                     AFRIYDFNENGFIDEEDLQRIILRLLNSDDMSEDLLMDLTNHVLSESDLDNDNMLSFSE
                     FEHAMAKSPDFMNSFRIHFWGC"
     regulatory      750..755
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CIB4"
                     /gene_synonym="KIP4"
                     /note="hexamer: AAGAAA"
     polyA_site      768
                     /gene="CIB4"
                     /gene_synonym="KIP4"
                     /note="major polyA site"
ORIGIN
        1 gagtccttga ggctgaggtt ctactgctgg cagacagaaa ggtgtggttg gcatggggca
       61 atgcttgagg tatcagatgc actgggagga cctggaagag taccaggccc tgaccttcct
      121 gaccagaaat gaaattctgt gcatccatga caccttcctg aagctctgcc ctcctgggaa
      181 gtactacaag gaggcaacgc tcaccatgga ccaggtcagc tccctgccag ctctgcgggt
      241 caaccctttc agagaccgta tctgcagagt gttctcccac aaaggcatgt tctcctttga
      301 ggatgtgctg ggcatggcat ctgtgttcag cgagcaggcc tgcccaagcc tgaagattga
      361 gtatgccttt cgcatctatg attttaatga gaatggcttc attgatgagg aggatctgca
      421 gaggatcatc ctgcgactgc tgaacagtga tgacatgtct gaggacctcc tgatggacct
      481 cacgaaccac gtcctgagtg agtcggatct ggacaatgac aacatgctgt ccttctcaga
      541 gtttgaacat gcaatggcca agtctccaga tttcatgaac tcctttcgga ttcacttctg
      601 gggatgctga tgtagcggca aacacctgac atggcagcct cgagggagac cacaggaatc
      661 gaaccccctc cagcactgga gggagctggt ttgaagtatg actttgtact gggcccacac
      721 tcacctctag aatattgttt attagataaa agaaaaagct tttcctta
//
LOCUS       NM_001029883            7303 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens photoreceptor cilium actin regulator (PCARE), mRNA.
ACCESSION   NM_001029883
VERSION     NM_001029883.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7303)
  AUTHORS   Jiang S, He Y, Li R and Zhao X.
  TITLE     Association of chromosome 2 open reading frame 71 in colorectal
            cancer susceptibility
  JOURNAL   Int J Clin Oncol 28 (2), 240-254 (2023)
   PUBMED   36396885
  REMARK    GeneRIF: Association of chromosome 2 open reading frame 71 in
            colorectal cancer susceptibility.
REFERENCE   2  (bases 1 to 7303)
  AUTHORS   Gerth-Kahlert C, Tiwari A, Hanson JVM, Batmanabane V, Traboulsi E,
            Pennesi ME, Al-Qahtani AA, Lam BL, Heckenlively J, Zweifel SA,
            Vincent A, Fierz F, Barthelmes D, Branham K, Khan N, Bahr A, Baehr
            L, Magyar I, Koller S, Azzarello-Burri S, Niedrist D, Heon E and
            Berger W.
  TITLE     C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive
            Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel
            Mutations
  JOURNAL   Invest Ophthalmol Vis Sci 58 (10), 3840-3850 (2017)
   PUBMED   28763557
  REMARK    GeneRIF: On the basis of our multicenter analysis, C2orf71 might
            represent a more frequently mutated gene in autosomal recessive
            retinitis pigmentosa in some populations.
REFERENCE   3  (bases 1 to 7303)
  AUTHORS   Liu YP, Bosch DG, Siemiatkowska AM, Rendtorff ND, Boonstra FN,
            Moller C, Tranebjaerg L, Katsanis N and Cremers FP.
  TITLE     Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null
            mutations in syndromic retinal dystrophy
  JOURNAL   Ophthalmic Genet 38 (2), 127-132 (2017)
   PUBMED   27029556
  REMARK    GeneRIF: We propose that the combination of heterozygous
            loss-of-function mutations in these genes drives syndromic retinal
            dystrophy, likely through the genetic interaction of at least two
            loci.
REFERENCE   4  (bases 1 to 7303)
  AUTHORS   Khateb S, Zelinger L, Mizrahi-Meissonnier L, Ayuso C, Koenekoop RK,
            Laxer U, Gross M, Banin E and Sharon D.
  TITLE     A homozygous nonsense CEP250 mutation combined with a heterozygous
            nonsense C2orf71 mutation is associated with atypical Usher syndrome
  JOURNAL   J Med Genet 51 (7), 460-469 (2014)
   PUBMED   24780881
  REMARK    GeneRIF: A homozygous nonsense CEP250 mutation, in combination with
            a heterozygous C2orf71 nonsense mutation, causes an atypical form of
            Usher syndrome, characterised by early-onset sensorineural hearing
            loss and a relatively mild retinitis pigmentosa.
REFERENCE   5  (bases 1 to 7303)
  AUTHORS   Audo I, Lancelot ME, Mohand-Said S, Antonio A, Germain A, Sahel JA,
            Bhattacharya SS and Zeitz C.
  TITLE     Novel C2orf71 mutations account for approximately 1% of cases in a
            large French arRP cohort
  JOURNAL   Hum Mutat 32 (4), E2091-E2103 (2011)
   PUBMED   21412943
  REMARK    GeneRIF: Novel C2orf71 mutations account for approximately 1% of
            cases in a large French arRP cohort.
REFERENCE   6  (bases 1 to 7303)
  AUTHORS   Sergouniotis PI, Li Z, Mackay DS, Wright GA, Borman AD, Devery SR,
            Moore AT and Webster AR.
  TITLE     A survey of DNA variation of C2ORF71 in probands with progressive
            autosomal recessive retinal degeneration and controls
  JOURNAL   Invest Ophthalmol Vis Sci 52 (3), 1880-1886 (2011)
   PUBMED   20811058
  REMARK    GeneRIF: C2ORF71 is a highly polymorphic gene (average
            heterozygosity of coding region in controls: 2.118 x 10(-3)) with
            many rare variants that confound mutation detection. GeneRIF:
            Observational study of gene-disease association. (HuGE Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 7303)
  AUTHORS   Nishimura DY, Baye LM, Perveen R, Searby CC, Avila-Fernandez A,
            Pereiro I, Ayuso C, Valverde D, Bishop PN, Manson FD, Urquhart J,
            Stone EM, Slusarski DC, Black GC and Sheffield VC.
  TITLE     Discovery and functional analysis of a retinitis pigmentosa gene,
            C2ORF71
  JOURNAL   Am J Hum Genet 86 (5), 686-695 (2010)
   PUBMED   20398886
  REMARK    GeneRIF: Discovery and functional analysis of a retinitis pigmentosa
            gene, C2orf71, are reported.
REFERENCE   8  (bases 1 to 7303)
  AUTHORS   Collin RW, Safieh C, Littink KW, Shalev SA, Garzozi HJ, Rizel L,
            Abbasi AH, Cremers FP, den Hollander AI, Klevering BJ and Ben-Yosef
            T.
  TITLE     Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa
  JOURNAL   Am J Hum Genet 86 (5), 783-788 (2010)
   PUBMED   20398884
  REMARK    GeneRIF: Mutations in C2orf71 cause autosomal-recessive retinitis
            pigmentosa.
REFERENCE   9  (bases 1 to 7303)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK092250.1, DA742287.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145245,
            SAMEA2147975 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000331664.6/ ENSP00000332809.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC105398.3, AK092250.1 and
            BM669582.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001029883.2.
            Summary: The protein encoded by this gene is highly expressed in
            photoreceptors and may associate with the primary cilium of the
            outer segment. The encoded protein appears to undergo
            post-translational lipid modification. Nonsense and missense
            variants of this gene appear to cause a recessive form of retinitis
            pigmentosa. [provided by RefSeq, Jun 2010].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7303
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.2"
     gene            1..7303
                     /gene="PCARE"
                     /gene_synonym="C2orf71; RP54"
                     /note="photoreceptor cilium actin regulator"
                     /db_xref="GeneID:388939"
                     /db_xref="HGNC:HGNC:34383"
                     /db_xref="MIM:613425"
     misc_feature    245..247
                     /gene="PCARE"
                     /gene_synonym="C2orf71; RP54"
                     /note="upstream in-frame stop codon"
     CDS             263..4129
                     /gene="PCARE"
                     /gene_synonym="C2orf71; RP54"
                     /note="uncharacterized protein C2orf71"
                     /codon_start=1
                     /product="photoreceptor cilium actin regulator"
                     /protein_id="NP_001025054.1"
                     /db_xref="CCDS:CCDS42669.1"
                     /db_xref="GeneID:388939"
                     /db_xref="HGNC:HGNC:34383"
                     /db_xref="MIM:613425"
                     /translation="MGCTPSHSDLVNSVAKSGIQFLKKPKAIRPGCQGGSERGSIPLLV
                     KNSTCYDAGEGLAEEQPSPRRNQTTAKGLCQLMGDPASGKRKDMEGLIPGTKTSSSQLN
                     KSQSHMAKDIPFKTQGSHGSQGADFSGDESEESSTQDTSKWKRTAKCHTSSTQSHCYQT
                     IHPAHEPEGKVDFPEPLVKAHQQAYTYLHSSLSKYEAILCIIHQATQTRELLQPMVSFL
                     LLCFEEISQLLGEISKDGEVLLQEVREDLAWPLKKREPQEQPNLLQQLLQYTVSKLQVL
                     NGTVASLTGSFLEGSSSYLHSTATHLENKLSTKRNVDERLLRALRQLESLASGCGDPGV
                     QGLPLCSEDSGIGADNESVQSVDKLGKQTSWDLAPEPEEWKSVTSPHTEARQSGHTWQQ
                     SPFCLGSGRPQDCLLSGAPMAKVQPRAQDEARSPCLSSTSPENITSPPLKLGTSTPCDS
                     FGIGVSVEPHLSKTSRPMDASSLSDSEDSSPEEEEEDKMSSMSLCAWQEKTPHSRPQSS
                     PADRESPFQARTRRLRSLQAQEMILKMKESISERIKFVPVPCGHQDWSEEEEGRTVVPP
                     RPSTVSGSRRAPERQTRSQSESCLQSHVEDPTFQELRRVQRDLSQKLEAFYALGAKGQG
                     QSQEQILQPRAAAVWPNGTCRVSPSNTTSRLKASLTKNFSILPSQDKSILQKCNPHPED
                     EQGKAGKLPNAIPSGEVSEAAKATDWNVRGCPTRTSVKKLIETFSPTESLRMLGDSKDA
                     GASPCLRNCIMPPRFPKYTGLAPLYPKPQISPASGRESLKMGIGWKPLAPIFPPLPKAE
                     AAKSEELSCEMEGNLEHLPPPPMEVLMDKSFASLESPESSKSTENSPKETQEPGPGEAG
                     PTRRTWASPKLRASVSPLDLLPSKSTASLTKPHSTGPGSGRSSCQPRKPALDLSSPPAT
                     SQSPEVKGGTWSQAEKATSLYRQPRKAIAWHHSGPPSGQNRTSESSLARPRQSRERSPP
                     VGRKASPTRTHWVPQADKRRRSLPSSYRPAQPSPSAVQTPPSPPVSPRVLSPPTTKRRT
                     SPPHQPKLPNPPPESAPAQCKVPSPPTQHPEASPPFSIPSPSPPMSPSQEHKETRDSED
                     SQAVIAKVSGNTHSIFCPATSSLFEAKPPLSTAHPLTPPSLPPEAGGPLGNPAECWKNS
                     SGPWLRADSQRRAALCALNPLPFLRRTASDRQPGGRPQPPTLDPTSTSYESQLGQNSSS
                     EESPKKDTEPGSSPCSPELQGGTRRASPPEFCVLGHGLQPEPRTGHIQDKSQPEAQPQQ
                     EEVS"
     misc_feature    494..703
                     /gene="PCARE"
                     /gene_synonym="C2orf71; RP54"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGG8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1364..1465
                     /gene="PCARE"
                     /gene_synonym="C2orf71; RP54"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGG8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1529..1621
                     /gene="PCARE"
                     /gene_synonym="C2orf71; RP54"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGG8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1661..1843
                     /gene="PCARE"
                     /gene_synonym="C2orf71; RP54"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGG8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1949..2077
                     /gene="PCARE"
                     /gene_synonym="C2orf71; RP54"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGG8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2318..2383
                     /gene="PCARE"
                     /gene_synonym="C2orf71; RP54"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGG8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2699..3589
                     /gene="PCARE"
                     /gene_synonym="C2orf71; RP54"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGG8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3656..3769
                     /gene="PCARE"
                     /gene_synonym="C2orf71; RP54"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGG8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3830..4126
                     /gene="PCARE"
                     /gene_synonym="C2orf71; RP54"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NGG8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      7275..7280
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCARE"
                     /gene_synonym="C2orf71; RP54"
                     /note="hexamer: AATAAA"
     polyA_site      7303
                     /gene="PCARE"
                     /gene_synonym="C2orf71; RP54"
                     /note="major polyA site"
ORIGIN
        1 agaattgtcc cgctgctcac taacagcaga gggttccaaa cttagaacaa caacaggacg
       61 acaggtacca ctccctcttc acatttggac caagaaaata aagaaagctg gttccaagtt
      121 taggatattg taccatggac ttcaaagaat tctggcctga aaattgcctg gatggactag
      181 taagattgcc ttttgttcct atttcaaata tgattcttgg aaaattgtga aggtgggtgg
      241 aagatgacta caagctgaaa tcatggggtg tacaccttca cacagtgacc ttgtaaacag
      301 cgttgcaaag agtggcattc agttcttgaa aaagcccaaa gcaattcggc caggatgtca
      361 gggcggaagt gaaagaggtt ccatcccttt gctggttaaa aactccacct gctatgacgc
      421 tggggagggc ctggcagagg agcagccaag tcccaggagg aaccaaacca cagctaaagg
      481 tctttgtcag ctcatgggag atcctgcttc aggcaaaagg aaagatatgg aaggactgat
      541 cccaggaacc aaaacctctt catcccagct gaacaaatca caaagccaca tggctaagga
      601 tattccgttc aagacacagg gttcccatgg atcacaaggg gcagactttt ctggagatga
      661 gagtgaggaa agtagtaccc aagatacttc caaatggaaa aggacagcaa aatgtcacac
      721 gtcaagcaca cagagccact gctaccaaac catccaccct gctcatgagc ctgaaggcaa
      781 agtggacttc ccggagcctc tggtaaaggc ccaccagcag gcttacacct atctacactc
      841 cagcctctcc aaatatgaag caattctgtg catcatccat caggccaccc agacccggga
      901 gctgctgcag cccatggtca gcttcttgct gctgtgcttt gaggagatca gccagctgtt
      961 gggggagatc tccaaggatg gagaagtgct cctgcaggaa gtcagggagg atctggcttg
     1021 gcctttgaag aaaagagagc cccaggagca gccaaatctc ctgcaacagc tgctacagta
     1081 cacagtcagc aagctgcagg tgctcaatgg cacagtggcc tcgctcaccg gcagcttcct
     1141 ggagggctcc agcagctacc tccactccac tgcaacccac ttggaaaata agctgagcac
     1201 aaaaaggaat gtggatgaac gcctcctgag ggctctgagg cagctagaga gcctggcgag
     1261 tggctgtggc gaccctgggg tgcagggtct ccccttatgc tctgaggaca gtggcattgg
     1321 tgctgacaat gagtccgtgc agtcggtgga caagctgggc aagcaaacca gctgggacct
     1381 tgcaccagag cccgaagaat ggaagtcggt gacttcaccc cacacagagg ccaggcagtc
     1441 aggacacacc tggcagcaaa gtccattctg tttgggctca ggcagacccc aggactgcct
     1501 gctctcaggg gctcctatgg caaaggttca gccacgagca caggacgaag caaggagccc
     1561 atgcctctcc agtacaagcc cagaaaatat cacctcccca cctttgaagc tggggacaag
     1621 caccccatgt gattcctttg ggattggggt ctctgtggaa ccacaccttt ccaaaacctc
     1681 caggccgatg gacgcttcat ctcttagtga cagcgaggac agcagcccag aggaggagga
     1741 ggaagacaaa atgagcagca tgagtctgtg tgcctggcag gaaaaaactc cacattcaag
     1801 gccacaatct tcacctgctg accgggaaag cccatttcag gcccgcacca ggaggcttag
     1861 gagcctccag gcccaggaaa tgattctgaa gatgaaggag tcaatcagcg aaaggatcaa
     1921 gtttgtccct gtgccctgtg ggcaccagga ctggtctgag gaggaggagg ggaggacagt
     1981 ggtcccccca agacctagca cggtaagtgg cagcaggagg gcccctgaga ggcagacgag
     2041 gtcccagtca gagtcgtgtc tccagagtca cgtggaggac cccacctttc aggagctgcg
     2101 aagggtccag agggacctca gtcagaagct ggaggcattt tatgccctgg gtgccaaagg
     2161 gcaggggcag agccaggagc aaattctgca gcccagagca gccgccgtgt ggcccaatgg
     2221 cacctgcagg gtcagtccaa gcaacaccac cagcaggctc aaggcatccc tcaccaagaa
     2281 cttcagtatt ttgcctagtc aggacaagag catcttgcag aaatgcaatc cccatcctga
     2341 ggacgaacaa ggcaaagctg ggaagcttcc aaatgccatc ccatcaggag aggtcagtga
     2401 ggctgccaag gccacagact ggaatgtcag aggctgtccc accagaacat ccgtcaagaa
     2461 gcttattgaa actttcagtc ccacggagag tctgaggatg ctgggggact ctaaggacgc
     2521 tggggcaagt ccctgcctca ggaattgcat catgcccccc agatttccca agtacacagg
     2581 gcttgcccct ttgtatccga agccccaaat ttctccagca tcaggcagag aatctctcaa
     2641 aatgggcata ggctggaagc ccttagcacc tatctttccc cctctgccta aagcagaagc
     2701 agccaagagt gaggagctca gctgtgaaat ggaggggaac ctcgagcacc tccctccacc
     2761 gcctatggaa gttctgatgg acaaatcatt cgcttctctg gagtccccag aaagcagcaa
     2821 gtccacagag aactccccca aggaaaccca ggagccaggg ccgggagagg ctggccccac
     2881 caggagaaca tgggcttccc caaagctgag ggcctctgtg agccccctgg acttgctgcc
     2941 cagcaagagc accgccagcc tgaccaagcc tcacagcaca gggccaggga gtggcaggag
     3001 cagctgccag cccaggaagc cagccctgga cctgagcagc ccaccagcca ccagccaaag
     3061 ccccgaggtg aagggtggga cttggagtca ggcagagaag gccaccagcc tctacaggca
     3121 gccccggaag gccatcgcct ggcaccactc cggccctcca tctggacaaa acaggacctc
     3181 agagtccagc ctggccagac caaggcagag ccgagagaga agcccccctg tgggcagaaa
     3241 ggcctctccc acgaggacac actgggtgcc tcaagcagac aagaggcgcc ggagccttcc
     3301 ctcctcttac agacctgccc agccaagccc ctctgctgtg cagacgcccc ccagcccacc
     3361 tgtgagcccc agggtgctaa gcccacccac cacaaagcgg cgaacttccc caccgcacca
     3421 gcccaagttg cccaaccctc cccccgagag tgcacctgct cagtgcaagg tccccagccc
     3481 cccaacccag cacccagaag caagcccccc tttctcgatt ccctccccat cacccccaat
     3541 gtccccttct caggagcaca aggaaacaag agactctgaa gacagccaag cagtcatagc
     3601 caaagtgtct gggaacacac attccatatt ctgcccagct acctcctctc tgtttgaagc
     3661 taaaccgcca ctctcaacag cccacccact gaccccacca tcgctgccgc cagaggctgg
     3721 gggccctctc gggaacccag cagaatgctg gaagaacagc tcagggcctt ggctgagagc
     3781 agactcgcag cggagagcag ctctgtgtgc cctcaaccct ctgcctttcc tcaggaggac
     3841 agcttctgac cgccagccag gtggccgacc gcagcctccc accttggacc ccaccagcac
     3901 ctcttatgaa tcccagctcg gccagaacag cagcagcgag gagagcccta agaaggacac
     3961 agagccgggg agcagcccct gttcccctga actgcagggc ggcaccaggc gtgcatctcc
     4021 cccagagttc tgtgtgctgg gccacgggct gcaaccggag cctcggaccg gccacatcca
     4081 ggacaaatcc cagccagagg cgcagcccca gcaagaggag gtgtcctgac aggctgacga
     4141 gggggccaca ctcacgcagt caccccagaa ggccaagtgt gacagccaag tgtccagcct
     4201 gacccagaga tgatgggcaa accaaactcc tactgaggtg tcctggaaag gcctggaagg
     4261 tgcactgccc agtgggtctg ctgaatttta aacaatcgcc gttttcagtc ccagatcttg
     4321 ctctgccttg gggttcaaag gttaaccaga acttttagac cccacaatga cagtatttaa
     4381 tgcttcaagt gctggcctta atttggggtg gggtgggggg tggagaatgt atagttgcat
     4441 gcttgatagg gttttaactg ggttcattcc ttgagatcac ttaagcctca caacagtgaa
     4501 tgaagcacat agcattcttc agttttgcgc atatgaaaac cgaaggtgtg gggagaggcc
     4561 ccctcaagtg tctggctgaa ggtcatacag ctaagaagag aatagagcaa aattttgcac
     4621 agatgagtct ggtgttagaa tctctctgct ctttttatta cattccattg cccgtaacta
     4681 ttgcgtcact ccacctgcct aaagcagaca tgggtgcgca aatggtcgca aagcttcttt
     4741 gttgtaaggt taagtagcgg cacagcattg acaaagtccc tattgagagc tttgtttaga
     4801 agtgcatggc tcccaaaatg agaaggctga gtgagccagg attaaaacac acagccccac
     4861 ccgtcctctg tcctctcctc cttcccaagc tcagtttcaa tgctgtaaac ttaaagctga
     4921 cagctcacaa taccagccac gctgcctctc ggcctaagca tgtagcaaat gctctcactg
     4981 ccctacgcat tacatgcttc tcgacggagt agggtaaacc aagcctccca aacaaggcag
     5041 cccattctcc acatgccgtg ggtgctggag ctcagaagat agcgtgggtg aggcatacgt
     5101 actcacacgc cgatctcccc tcggaggctt cttggccaac tttattccca ggtcatcttg
     5161 cagaacttct gctggagtcg aaatcaaagt gaaaaacagt tgttcatgcc aaaaacctgc
     5221 ttctgccaat gagctagata tttgctgcag atcttggaat gcttccactg gaggctgtgg
     5281 tgtgcgttct atttagaaaa gattttgcag taattgagtg attcaatgcc ggctcaatgg
     5341 gttggcaaaa gacaagaatt cttacccact ggggtacagc aaagggacga tcctccagat
     5401 ctgctgcaaa gctgattttt aaagtttggg gtaattatag acctcaaacc cattcttgct
     5461 gggactgtgg gctcaaaaac ttgttaaact gggtccctag ggactatagc aacctccccc
     5521 agagagaggc tatgactctg agtaaatgaa tcccaccttg acttgtccaa ttattattca
     5581 aaggcaccca aagaacagct gattaaacta ccaagagggg ccacaaccca cccctctgct
     5641 ggaaagggac acacccagct gtctgctcgc atttgctcct gttgccgccc tcatctcaga
     5701 gaagtgctca ggcagtgccc aggccagccg attctagagc caagccacac ccactgctgg
     5761 gtggacactt aggagctgcc tggactgcag gcaacgcagg gaagtccagc cacccaggca
     5821 gggcaggggc caaggtaagc acgtgaggat ggaccaggtt cagcaaactt gcccgacaga
     5881 gatctgggca ttctccctaa atggttgggc agaccaacca ttgggtcacc atggggtgag
     5941 ccttaggtaa gctgggcact gagctgagtg agcaggagac acacagtgtg agcggccttt
     6001 gaggtctagc tcacaagtaa gtggcttcag gtgggactgc tcagaaagtg ggccctgcct
     6061 gggctcagat ttaggggcag gattcctgga ggtccgagga aacgaagctg ttccccagct
     6121 gcagggagac tggagtggga cacagtgggt gaaactgggg taccatgagg ggtggaaccc
     6181 caggaattat acacattttc attactggaa ccgggatatg aagtggagcc actccagcag
     6241 tgaggggaag caaggctgag tctccagccc aggcctcctt ccgtaaaggg cctcatctta
     6301 aaagtccagg gctgggtaga aagtggaaag ggtggccgag tgccccctgc tgtggccatg
     6361 caagctagcg gcagcaggga gccaggcaga ttattccacc acagaagggg tcagtatcat
     6421 ggagaacacg caggaagggt ccggaatgaa caacggtgct ttccgtgagc atgcatggca
     6481 ggaggctgtc tgagactaga ggttgtccct cgccaggcta ggctggcaag cagcaggaag
     6541 tgcccaccca ccatattgca ggcagcagac gaaggggtac agggcacccg ggatcctgcc
     6601 atcagctgtg gagatgccca tgatgcctcc ttgtccctct ggaggacctc cacgtttgct
     6661 tggggccaac gtgtgccagg acagggcgag gctcctgcca taggtcccca cacacgatgt
     6721 cataaaagcc cccagctgcc accagaccca ggcagccggg acagtgagct ggtgacacca
     6781 ttgtgttgcc cagtaacctt aggctactgg aattccaagt cagcttcccc cactccaggg
     6841 aagatgggga ggggttgcca aggtgctggg ggctgggggt caattaggtc aaaggtgaag
     6901 cagtgctgag ccgacatagg agcaggcggg tcaaagatgt gtttttggct accataccaa
     6961 ctaccagact tagctcaaat tacatgtgaa ttagactttg tacaaaagga attaaatcca
     7021 caatggaaca gttttgtggc atctggtcag ttttgcctcc tagagaccag gtcttccaca
     7081 aacttgagtc tgccttggag cacgcattgc tggtggcagg aggggcaaac ccagctgtac
     7141 agcttctcag acaagggctg ctcacgccca ccatctccct tctacccaag aatggtatcc
     7201 ttgctgggcc aaatccactt cctttgccca agggggaagg gaggacagtt tttctttgtt
     7261 ctgctttttg ttttaataaa aattattaag ccaatgaacc caa
//
LOCUS       NM_001029884            7217 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens pleckstrin homology and RhoGEF domain containing G1
            (PLEKHG1), transcript variant 3, mRNA.
ACCESSION   NM_001029884
VERSION     NM_001029884.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7217)
  AUTHORS   Traylor M, Tozer DJ, Croall ID, Lisiecka-Ford DM, Olorunda AO,
            Boncoraglio G, Dichgans M, Lemmens R, Rosand J, Rost NS, Rothwell
            PM, Sudlow CLM, Thijs V, Rutten-Jacobs L and Markus HS.
  CONSRTM   International Stroke Genetics Consortium
  TITLE     Genetic variation in PLEKHG1 is associated with white matter
            hyperintensities (n = 11,226)
  JOURNAL   Neurology 92 (8), e749-e757 (2019)
   PUBMED   30659137
  REMARK    GeneRIF: Genetic variation in PLEKHG1 is associated with white
            matter hyperintensities and ischemic stroke, most strongly with the
            small vessel subtype, suggesting it acts by promoting small vessel
            arteriopathy. Erratum:[Neurology. 2019 Sep 24;93(13):608. PMID:
            31551276]
REFERENCE   2  (bases 1 to 7217)
  AUTHORS   Gray KJ, Kovacheva VP, Mirzakhani H, Bjonnes AC, Almoguera B, DeWan
            AT, Triche EW, Saftlas AF, Hoh J, Bodian DL, Klein E, Huddleston KC,
            Ingles SA, Lockwood CJ, Hakonarson H, McElrath TF, Murray JC, Wilson
            ML, Norwitz ER, Karumanchi SA, Bateman BT, Keating BJ and Saxena R.
  TITLE     Gene-Centric Analysis of Preeclampsia Identifies Maternal
            Association at PLEKHG1
  JOURNAL   Hypertension 72 (2), 408-416 (2018)
   PUBMED   29967039
  REMARK    GeneRIF: PLEKHG1 rs9478812 variant substantially increases risk of
            preeclampsia.
REFERENCE   3  (bases 1 to 7217)
  AUTHORS   Lei SF, Papasian CJ and Deng HW.
  TITLE     Polymorphisms in predicted miRNA binding sites and osteoporosis
  JOURNAL   J Bone Miner Res 26 (1), 72-78 (2011)
   PUBMED   20641033
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.225585.1,
            SRR1660809.72221.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000696526.1/ ENSP00000512689.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL450344.4, AL450339.5 and AL035086.12.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001029884.2.
            Transcript Variant: This variant (3), as well as variants 4 and 5,
            encodes isoform c.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7217
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1"
     gene            1..7217
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /note="pleckstrin homology and RhoGEF domain containing G1"
                     /db_xref="GeneID:57480"
                     /db_xref="HGNC:HGNC:20884"
                     /db_xref="MIM:620134"
     misc_feature    171..173
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /note="upstream in-frame stop codon"
     CDS             291..4448
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /note="isoform c is encoded by transcript variant 3;
                     pleckstrin homology domain containing, family G (with
                     RhoGef domain) member 1"
                     /codon_start=1
                     /product="pleckstrin homology domain-containing family G
                     member 1 isoform c"
                     /protein_id="NP_001025055.1"
                     /db_xref="CCDS:CCDS34552.1"
                     /db_xref="GeneID:57480"
                     /db_xref="HGNC:HGNC:20884"
                     /db_xref="MIM:620134"
                     /translation="MELSDSDRPVSFGSTSSSASSRDSHGSFGSRMTLVSNSHMGLFNQ
                     DKEVGAIKLELIPARPFSSSELQRDNPATGQQNADEGSERPPRAQWRVDSNGAPKTIAD
                     SATSPKLLYVDRVVQEILETERTYVQDLKSIVEDYLDCIRDQTKLPLGTEERSALFGNI
                     QDIYHFNSELLQDLENCENDPVAIAECFVSKSEEFHIYTQYCTNYPRSVAVLTECMRNK
                     ILAKFFRERQETLKHSLPLGSYLLKPVQRILKYHLLLHEIENHLDKDTEGYDVVLDAID
                     TMQRVAWHINDMKRKHEHAVRLQEIQSLLTNWKGPDLTSYGELVLEGTFRIQRAKNERT
                     LFLFDKLLLITKKRDDTFTYKAHILCGNLMLVEVIPKEPLSFSVFHYKNPKLQHTVQAK
                     SQQDKRLWVLHLKRLILENHAAKIPAKAKQAILEMDAIHHPGFCYSPEGGTKALFGSKE
                     GSAPYRLRRKSEPSSRSHKVLKTSETAQDIQKVSREEGSPQLSSARPSPAQRNSQPSSS
                     TMISVLRAGGALRNIWTDHQIRQALFPSRRSPQENEDDEDDYQMFVPSFSSSDLNSTRL
                     CEDSTSSRPCSWHMGQMESTETSSSGHRIVRRASSAGESNTCPPEIGTSDRTRELQNSP
                     KTEGQEEMTPFGSSIELTIDDIDHVYDNISYEDLKLMVAKREEAESTPSKSARDSVRPK
                     STPELAFTKRQAGHSKGSLYAQTDGTLSGGEASSQSTHELQAVEENIYDTIGLPDPPSL
                     GFKCSSLKRAKRSTFLGLEADFVCCDSLRPFVSQDSLQLSEDEAPYHQATPDHGYLSLL
                     YDSPSGNLSMPHKPVSDKLSEEVDEIWNDLENYIKKNEDKARDRLLAAFPVSKDDVPDR
                     LHAESTPELSRDVGRSVSTLSLPESQALLTPVKSRAGRASRANCPFEEDLISKEGSFMS
                     LNRLSLASEMPLMDNPYDLANSGLSQTDPENPDLGMEATDKTKSRVFMMARQYSQKIKK
                     ANQLLKVKSLELEQPPASQHQKSMHKDLAAILEEKKQGGPAIGARIAEYSQLYDQIVFR
                     ESPLKIQKDGWASPQESSLLRSVSPSQVHHGSGDWLLHSTYSNGELADFCLPPEQDLRS
                     RYPTFEINTKSTPRQLSAACSVPSLQTSDPLPGSVQRCSVVVSQPNKENWCQDHLYNSL
                     GRKGISAKSQPYHRSQSSSSVLINKSMDSINYPSDVGKQQLLSLHRSSRCESHQDLLPD
                     IADSHQQGTEKLSDLTLQDSQKVVVVNRNLPLNAQIATQNYFSNFKETDGDEDDYVEIK
                     SEEDESELELSHNRRRKSDSKFVDADFSDNVCSGNTLHSLNSPRTPKKPVNSKLGLSPY
                     LTPYNDSDKLNDYLWRGPSPNQQNIVQSLREKFQCLSSSSFA"
     misc_feature    291..383
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULL1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    477..593
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULL1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1653..1844
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULL1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1998..2228
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULL1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2319..2378
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULL1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2391..2486
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULL1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2892..2951
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULL1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3864..3866
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9ULL1.2); phosphorylation site"
     misc_feature    4242..4319
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9ULL1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4535..4540
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /note="hexamer: ATTAAA"
     polyA_site      4555
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
     regulatory      7192..7197
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /note="hexamer: AATAAA"
     polyA_site      7217
                     /gene="PLEKHG1"
                     /gene_synonym="ARHGEF41"
                     /note="major polyA site"
ORIGIN
        1 gagcctgagc ccgagcccga gcccgacggc ggctgcaggg cgctccggca gcccgagccg
       61 gcgcagcgca gcccgcaccc tccccgcccg acctgcgagc gccgcccggg catgcgaagc
      121 cgtccctccc cgggtgaaga ctgatgagaa gagtctgtgg gtgaagacat tgaaaaggtt
      181 tcaactataa aaatgggcac cagttgcgtc ttgaagtgcc atcagctgta accaaagttc
      241 cacatcccaa gacgacagcc aggcgttcct gccctcaaga actgaagaca atggagctct
      301 ctgatagtga ccgacccgtc agcttcggtt ccacatcatc ctcggcctct tcccgcgaca
      361 gccatggttc cttcggcagc agaatgacct tagtttcaaa tagccacatg ggcttgttta
      421 accaggataa ggaggtaggg gccataaaac tggagctgat tcctgccagg ccgttttcca
      481 gcagcgagct gcagagggac aaccccgcca cggggcaaca gaacgcggat gagggcagcg
      541 aaaggccacc cagagcgcag tggagagtgg actcaaacgg ggcacccaag acgatcgcag
      601 actcggccac gagccccaag ctcctctatg tggatagagt tgttcaggaa attctggaaa
      661 ccgaaaggac ttatgtacaa gatttaaaaa gcatcgtaga ggattacctt gactgcatca
      721 gggaccaaac aaaacttccc ctggggaccg aagaaagatc agcccttttt ggaaacatac
      781 aggatatcta ccacttcaat agtgaacttc tgcaagattt ggaaaactgt gaaaatgatc
      841 ctgtggccat agcagagtgt tttgtgtcca agagtgaaga gttccacatt tatacccagt
      901 attgcactaa ctatccaagg tccgtggctg tgctaacaga gtgtatgagg aacaagatac
      961 tggccaaatt cttcagggag cgtcaggaaa ctctgaaaca ctcgctgcct ctggggtcct
     1021 atctcttgaa accagttcag cggattctca agtatcatct ccttctgcat gaaatagaaa
     1081 accaccttga taaggacaca gaaggctatg atgtggtgct tgatgctata gacacaatgc
     1141 agcgagtcgc ctggcatatc aatgacatga agcggaaaca cgagcacgcg gtccggttac
     1201 aggagataca gagtttgctc actaactgga aggggccaga cctgaccagc tacggggaac
     1261 tggtgcttga gggaaccttc cgcatccagc gagccaagaa tgagcggacg ctcttcctct
     1321 tcgacaagct gctgctcatc acgaagaaga gagatgacac gtttacatac aaagctcaca
     1381 tcctgtgtgg caacctcatg cttgtggagg tgattccaaa agagccgctc agcttcagcg
     1441 tcttccacta caagaatccc aagctgcagc acacagtcca ggccaaatcc cagcaagaca
     1501 aacgcctctg ggttctgcac ctaaagagac tgattctgga gaaccatgca gccaagattc
     1561 cagctaaggc caagcaagca atccttgaaa tggatgccat tcatcatcca ggcttctgtt
     1621 acagtcctga gggagggacg aaagcactgt tcggctctaa agaaggttct gctccatatc
     1681 ggctgagaag aaaatctgaa ccttcctcac ggtcacataa agttttgaag accagtgaaa
     1741 cagcacaaga catccaaaag gtttctagag aggaaggatc tccccagctg tcttcagcaa
     1801 ggccgtctcc tgcccagaga aatagtcagc ctagcagttc taccatgatc agcgtgcttc
     1861 gagcgggtgg agctctcaga aacatctgga ccgatcacca gatcaggcaa gccttgtttc
     1921 ccagccgacg gtccccgcag gagaatgagg atgatgaaga tgattatcag atgttcgtgc
     1981 cgtcattttc ctcctcagat ctgaactcta ccagactatg tgaagatagc acttctagtc
     2041 gcccttgcag ctggcatatg ggacagatgg agtccacaga gacctccagc tctggtcaca
     2101 ggattgtcag gcgggccagc agtgctgggg agagcaacac atgccctcct gaaataggaa
     2161 ctagtgacag aactagggaa ctgcagaaca gccccaaaac agaagggcag gaggagatga
     2221 ctccctttgg gtcatccata gagttgacta ttgatgacat agaccatgtc tatgataaca
     2281 tcagttatga ggacttaaaa ctaatggttg ctaagcggga agaagctgaa tccactccct
     2341 ctaaatcagc cagggactcc gttcgcccca agagcacccc agagttagcc ttcacaaaga
     2401 ggcaagctgg ccacagtaag ggctctcttt acgcacaaac agatggcacc ctctcaggtg
     2461 gagaggcatc cagccaaagc acgcatgaac tccaagcggt tgaggagaac atctatgaca
     2521 ccatagggct cccagatcct ccgtcgctgg gttttaagtg cagcagccta aagcgtgcaa
     2581 agcggagcac ctttttgggt ctggaggccg acttcgtgtg ctgtgacagc ctgaggccat
     2641 ttgtttccca agacagcctc cagctcagtg aggacgaagc cccttaccat caggccactc
     2701 ccgatcatgg ttatctgagt ttgctgtatg actctcccag tggtaacttg tctatgcctc
     2761 ataagcctgt atctgataaa ctgtccgaag aagtagatga aatctggaat gacctggaaa
     2821 attacatcaa gaaaaatgaa gacaaggcca gagaccgtct cctggcagcg tttcctgtga
     2881 gcaaggatga tgtgccagac aggctgcacg cagagagcac ccctgagctg agccgggacg
     2941 tggggcgctc tgtgtccacg ctgtccctgc ctgagagcca ggctctcctc acgcccgtga
     3001 agagcagggc tggcagagcc agccgcgcca actgcccctt tgaggaagac ctgatttcta
     3061 aagaaggctc ctttatgagc cttaaccggc tttctctggc tagtgaaatg cccctcatgg
     3121 acaatcccta cgacctggcc aacagtggcc tgtctcaaac agacccagaa aaccctgacc
     3181 tggggatgga ggccacagat aagacaaaaa gcagggtgtt tatgatggct cggcagtaca
     3241 gtcagaagat taagaaggcg aatcaacttt taaaagtgaa aagtctggag ctggagcagc
     3301 cgccggccag tcagcatcag aaatccatgc acaaagacct ggctgccatc ttggaagaga
     3361 agaagcaagg agggcccgcc attggtgcca ggattgctga gtattcccag ttgtatgacc
     3421 agattgtatt cagagagtct cccttgaaaa ttcagaagga tggctgggcc agccctcaag
     3481 aatcctccct cctgaggtct gtgtcacctt cccaggtcca ccatggtagt ggagactggc
     3541 ttctgcattc aacctatagt aatggagagt tagcagattt ctgtctccca ccagagcaag
     3601 acttgaggtc aagatatccc acgtttgaga tcaatacaaa aagtactccc aggcaattgt
     3661 ccgcagcttg ctctgtgcct tctcttcaaa cctctgaccc tctgccaggc tctgtgcaga
     3721 gatgcagcgt ggtagtaagt cagcccaaca aagagaactg gtgtcaggac catctttaca
     3781 actccttggg tcggaaaggg atcagcgcta aatctcagcc ttatcacagg tcccagtcat
     3841 cttcctccgt cttgatcaac aaatcaatgg attccatcaa ctaccctagt gatgtgggaa
     3901 agcagcagct gctgtcttta cacagaagtt caaggtgtga gagtcaccag gacttgctgc
     3961 cagatattgc tgactcgcat caacagggca ctgaaaaact ctcagatctc acactccaag
     4021 actcacagaa agttgtggtg gtcaatagaa atttaccctt aaatgcccaa attgcaacac
     4081 agaattattt ttccaatttc aaagagactg atggagatga agatgactat gtggaaatca
     4141 agtcagaaga agatgagtcg gagttggagc tatctcacaa tcgtagaagg aaatctgact
     4201 caaagtttgt ggatgctgac ttttctgata atgtctgcag cggcaacaca ttgcattctt
     4261 tgaatagtcc gcgcactcca aaaaagccgg ttaacagcaa acttggcctt tcaccatatc
     4321 tgacaccata taatgattct gacaaactga atgactatct ttggaggggg ccatctccca
     4381 atcaacaaaa tattgtccag tctctaaggg aaaaatttca gtgtctcagt tcaagcagct
     4441 ttgcttaagg ttcttcataa taactgcttg aatcaacttc ttattttgct cataaaacgt
     4501 tacagatact gatgaggtgt tttatgtata ccagattaaa acaattttgt aagaaccaga
     4561 ggtgtaaaat atactttctt ttacagcaca acttttggaa atggctgacg atgcagcccg
     4621 gattgtactg tagcacatgt tggcatcaac agtatatttt ctcatgctga gtgtcttcat
     4681 gtttcatgta agtcaatctt acttgaaagt ttttagactt ttaacacgat ggccataacc
     4741 tgacaatagt gcccacacct taagaaatgc aataatcctt tcctgttatc cagaaggccc
     4801 aggtagtttt atcctgtgac tcaaaggcag caaggagact ttttcacatt ttaaaaggca
     4861 acgaaagctg ttgaaagaat tatgcttata tctcacattt tggttatatt tgtggtaaca
     4921 ccttaggata acgtaagcca gagatctgta aattggactg cagtctgagg tgcccatttt
     4981 agggtttttg tgctagtatt cttttatgtc attttgatgc agaaattgtg tgactgttga
     5041 aaattaaaat gtagcgggac ccattttctg tacgcagaac cctttacctg tattcctgga
     5101 caaggcctag agaacgagct gctcatcatg tttctaatat aatttctggg gtgaaatgaa
     5161 tgatttcctt actggcttag agaaaaccaa ggtcaataaa atgcagattg acttaactat
     5221 tagaaaagat gggatgactt ctgggaacca cttaactctt caaatgactg ttgaaagaga
     5281 aaaagcaaaa ctgaaatccc accagaccat tttgtgtgcc tgtttctaat cgatacaaag
     5341 ttaagcatga gctaaaatca gacaaagcac tttaaattta tcctttccag agcgctttgc
     5401 acatgcaccc tcctgagttt gggattctgc caaatgacca acttgatcct ggccctgagg
     5461 agtcattggc tgcaggaata gggcaagaat ctatttccta aactacacat aacatgggag
     5521 cctttttttc gttgttttca ggtatattaa agaatgaaat ctttggttac taggtgctga
     5581 ctaataaata acacctttta tattctgacc atttgtcaca tttcattgtg atactgtata
     5641 ctgatctaac tccttatgaa aggcaacaaa caaaaataag acattgaata aaaagcaaaa
     5701 tcaaagaagc taaagagaaa aatgaaggca gatatattgc aactttataa catattctat
     5761 tttattgaag actgcaatta atgcagcaag aatgctttct caagcggtgg cctttgtatt
     5821 ctcattttaa tcaggtgtac attctatggc ctctccccca tgctgttagt ttctatttta
     5881 aaagatacaa taatatatgt agggaaaggg gcctgggctc ttcatttaaa ggtaagcagt
     5941 aatattgagt aagtgacata attctttttc tctttgttaa gtcctatgcc tctttttctt
     6001 aactgtaaaa catagaatat gagcgttttt atcttacaaa taggtaccta aggcatgtga
     6061 ttttattttt aaataacaaa aaataaccca agtttcttgc ttctccaaag tattcttctc
     6121 atagcttata aaagaaagtc cacattgaat agcatggtct gggaacattc cttctttatt
     6181 gtgtttattt gaacatgata tgagtttcca agatgaaatg atcaaaaaag ataagtacca
     6241 caagaaagtt tttttgtttg gttggttttt ttgtttgttt gtttttttct tgagactgag
     6301 tctctccctg ttgcccaagt tggagtgcaa tcttggctca ctgcagcctc cacctccccg
     6361 gttccagcga ttctcctgcc tcagcctctt gaatagctgg gattacaggc gcccgccacc
     6421 acacctggct aatttttgtg ttgttagtag aggcggggtt tcatcatgtt ggccaggctg
     6481 gtctcgaact cctgatctca tgatccgtct gcctcggcct cccagagtgc tgggattaca
     6541 ggcatgagcc actgcgcccg gccaagaaag tatgttttta gaggtgtgtg taagtgcatt
     6601 tgtattacct atgaacaaaa ttacctgact cttgtcccag gaaagctgtt tcgcattttc
     6661 gctttttgat tggtattatc cagttctatg tagttcatat tattgttctg tctgactctc
     6721 agaaattact tcttcacgcc agtgtcttgt tgcatgactt tgatgtcacc tataggaata
     6781 cacctcactg cacgtaagtg ggtatcttac tgtataaaag gtctacatgg ctttaggttt
     6841 taggacaaat gtgtagattt atagaccatt tctgttggcc aggacacaga ttttgagagc
     6901 tgtgtgtata tatatataat catgtttgta tttttttcct gaaagttatc aattgctttt
     6961 gtttaaaaca gtttgtttta gaggtggggt ggggatgtat ataacgagga aaagttatat
     7021 gtactttaaa gtatgtcaag ttcttactag tttcctgtac tgaaggttca atttttttta
     7081 tataagttta cttttcacct gctctattct ttgtggggaa aaaatgcatc tagaaaaaca
     7141 tagtttaaat actgtatata agataatgaa agttagtaac gtccattatt taataaagtt
     7201 tgtaaagtac aaggtaa
//
LOCUS       NM_001029885            2154 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens ceramide-1-phosphate transfer protein (CPTP), mRNA.
ACCESSION   NM_001029885
VERSION     NM_001029885.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2154)
  AUTHORS   Zhang Y, Ji S, Zhang X, Lu M, Hu Y, Han Y, Shui G, Lam SM and Zou X.
  TITLE     Human CPTP promotes growth and metastasis via sphingolipid
            metabolite ceramide and PI4KA/AKT signaling in pancreatic cancer
            cells
  JOURNAL   Int J Biol Sci 18 (13), 4963-4983 (2022)
   PUBMED   35982909
  REMARK    GeneRIF: Human CPTP promotes growth and metastasis via sphingolipid
            metabolite ceramide and PI4KA/AKT signaling in pancreatic cancer
            cells. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2154)
  AUTHORS   Zhang Y, Zhang X, Lu M and Zou X.
  TITLE     Ceramide-1-phosphate and its transfer proteins in eukaryotes
  JOURNAL   Chem Phys Lipids 240, 105135 (2021)
   PUBMED   34499882
  REMARK    GeneRIF: Ceramide-1-phosphate and its transfer proteins in
            eukaryotes. Review article
REFERENCE   3  (bases 1 to 2154)
  AUTHORS   Gao YG, Zhai X, Boldyrev IA, Molotkovsky JG, Patel DJ, Malinina L
            and Brown RE.
  TITLE     Ceramide-1-phosphate transfer protein (CPTP) regulation by
            phosphoinositides
  JOURNAL   J Biol Chem 296, 100600 (2021)
   PUBMED   33781749
  REMARK    GeneRIF: Ceramide-1-phosphate transfer protein (CPTP) regulation by
            phosphoinositides.
REFERENCE   4  (bases 1 to 2154)
  AUTHORS   Mishra SK, Gao YG, Deng Y, Chalfant CE, Hinchcliffe EH and Brown RE.
  TITLE     CPTP: A sphingolipid transfer protein that regulates autophagy and
            inflammasome activation
  JOURNAL   Autophagy 14 (5), 862-879 (2018)
   PUBMED   29164996
  REMARK    GeneRIF: These findings identify human CPTP as an endogenous
            regulator of early-stage autophagosome assembly and
            inflammasome-driven, pro-inflammatory cytokine generation and
            release.
REFERENCE   5  (bases 1 to 2154)
  AUTHORS   Simanshu DK, Kamlekar RK, Wijesinghe DS, Zou X, Zhai X, Mishra SK,
            Molotkovsky JG, Malinina L, Hinchcliffe EH, Chalfant CE, Brown RE
            and Patel DJ.
  TITLE     Non-vesicular trafficking by a ceramide-1-phosphate transfer protein
            regulates eicosanoids
  JOURNAL   Nature 500 (7463), 463-467 (2013)
   PUBMED   23863933
  REMARK    GeneRIF: a ubiquitously expressed lipid transfer protein, human
            GLTPD1, named here CPTP, is shown to specifically transfer C1P
            between membranes.
REFERENCE   6  (bases 1 to 2154)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction Assessment
            with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (bases 1 to 2154)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2154)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.827296.1,
            SRR3476690.456880.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000343938.9/ ENSP00000343890.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL139287.24.
            On Nov 22, 2018 this sequence version replaced NM_001029885.1.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2154
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..2154
                     /gene="CPTP"
                     /gene_synonym="GLTPD1"
                     /note="ceramide-1-phosphate transfer protein"
                     /db_xref="GeneID:80772"
                     /db_xref="HGNC:HGNC:28116"
                     /db_xref="MIM:615467"
     misc_feature    323..325
                     /gene="CPTP"
                     /gene_synonym="GLTPD1"
                     /note="upstream in-frame stop codon"
     CDS             377..1021
                     /gene="CPTP"
                     /gene_synonym="GLTPD1"
                     /note="glycolipid transfer protein domain-containing
                     protein 1; GLTP domain-containing protein 1; glycolipid
                     transfer protein domain containing 1"
                     /codon_start=1
                     /product="ceramide-1-phosphate transfer protein"
                     /protein_id="NP_001025056.1"
                     /db_xref="CCDS:CCDS30555.1"
                     /db_xref="GeneID:80772"
                     /db_xref="HGNC:HGNC:28116"
                     /db_xref="MIM:615467"
                     /translation="MDDSETGFNLKVVLVSFKQCLDEKEEVLLDPYIASWKGLVRFLNS
                     LGTIFSFISKDVVSKLRIMERLRGGPQSEHYRSLQAMVAHELSNRLVDLERRSHHPESG
                     CRTVLRLHRALHWLQLFLEGLRTSPEDARTSALCADSYNASLAAYHPWVVRRAVTVAFC
                     TLPTREVFLEAMNVGPPEQAVQMLGEALPFIQRVYNVSQKLYAEHSLLDLP"
     regulatory      2113..2118
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPTP"
                     /gene_synonym="GLTPD1"
                     /note="hexamer: AATAAA"
     polyA_site      2154
                     /gene="CPTP"
                     /gene_synonym="GLTPD1"
                     /note="major polyA site"
ORIGIN
        1 ggggcccgca cggcggctac ggcctaggtg agcggctcgg actcggcggc cgcacctgcc
       61 caacccaacc cgcacggtcc ggaagtcgcc gaggggccgg gagcgggagg ggacgtcgtc
      121 ctagagggcc ggagcgggcg ggcggccgag gacccggctc ccgcgcagga cggagccgtg
      181 gctcaggtcg gcccctcccc aacaccaccc cgggcctccg ccccttcctg ggcctctcgg
      241 tggagcaggg acccgaaccg gtgcccatcc agtccggtgc catctgaagc ccccttccca
      301 gaaaatgagc cacagagcaa gctgacccca gcgacacagc cccccagccc tactgtattt
      361 ccgttcctat caaaaaatgg atgactcgga gacaggtttc aatctgaaag tcgtcctggt
      421 cagtttcaag cagtgtctcg atgagaagga agaggtcttg ctggacccct acattgccag
      481 ctggaagggc ctggtcaggt ttctgaacag cctgggcacc atcttctcat tcatctccaa
      541 ggacgtggtc tccaagctgc ggatcatgga gcgcctcagg ggcggcccgc agagcgagca
      601 ctaccgcagc ctgcaggcca tggtggccca cgagctgagc aaccggctgg tggacctgga
      661 gcgccgctcc caccacccgg agtctggctg ccggacggtg ctgcgcctgc accgcgccct
      721 gcactggctg cagctgttcc tggagggcct gcgtaccagc cccgaggacg cacgcacctc
      781 cgcgctctgc gccgactcct acaacgcctc gctggccgcc taccacccct gggtcgtgcg
      841 ccgcgccgtc accgtggcct tctgcacgct gcccacacgc gaggtcttcc tggaggccat
      901 gaacgtgggg cccccggagc aggccgtgca gatgctaggc gaggccctcc ccttcatcca
      961 gcgtgtctac aacgtctccc agaagctcta cgccgagcac tccctgctgg acctgcccta
     1021 ggggcgggaa gccagggccg caccggcttt cctgctgcag atctgggctg cggtggccag
     1081 ggccgtgagt cccgtggcag agccttctgg gcgctgcggg aacaggagat cctctgtcgc
     1141 ccctgtgagc tgagctggtt aggaaccaca gactgtgaca gagaaggtgg cgaccagccc
     1201 agaagaggcc caccctctcg gtccggaaca agacgcctcg gccacggctc cccctcggcc
     1261 tattacacgc gtgcgcagcc aggcctcgcc agggtgcggt gcagagcaga gcaggcaggg
     1321 gtgggggccg ggcctgcaag agcccgaaag gtcgccaccc cctagcctgt ggggtgcatc
     1381 tgcgaaccag ggtgaagtca caggtcccgg ggtgtggagg ctccatcctt tctcctttct
     1441 gccagccgat gtgtcctcat ctcaggcccg tgcctgggac cccgtgtctg cccaggtggg
     1501 cagccttgag cccaggggac tcagtgccct ccatgccctg gctggcagaa accctcaaca
     1561 gcagtctggg cactgtgggg ctctccccgc ctctcctgcc ttgtttgccc ctcagcgtgc
     1621 caggcagact gggggcagga cagccggaag ctgagaccaa ggctcctcac agaagggccc
     1681 aggaagtccc cgcccttggg acagcctcct ccgtagcccc tgcacggcac cagttccccg
     1741 agggacgcag caggccgcct cccgcagcgg ccgtgggtct gcacagccca gcccagccca
     1801 aggcccccag gagctgggac tctgctacac ccagtgaaat gctgtgtccc ttctcccccg
     1861 tgccccttga tgccccctcc ccacagtgct caggagaccc gtggggcacg gaacaggagg
     1921 gtctggaccc tgtggcccag ccaaaggcta ccagacagcc acaaccagcc cagccaccat
     1981 ccagtgcctg gggcctggcc actggctctt cacagtggac cccagcacct cggggtggca
     2041 gagggacggc ccccacggcc cagcagacat gcgagcttcc agagtgcaat ctatgtgatg
     2101 tcttccaacg ttaataaatc acacagcctc ccaggaggga gacgctgggg tgca
//
LOCUS       NM_001029886             553 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens profilin 3 (PFN3), mRNA.
ACCESSION   NM_001029886
VERSION     NM_001029886.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 553)
  AUTHORS   Gul SI, Ayoub A, Ali SA, Hanook S and Baig DN.
  TITLE     Profilin 3 genetic architecture in glioma formalin fixed paraffin
            embedded (FFPE) archive
  JOURNAL   Gene 787, 145614 (2021)
   PUBMED   33775850
  REMARK    GeneRIF: Profilin 3 genetic architecture in glioma formalin fixed
            paraffin embedded (FFPE) archive.
REFERENCE   2  (bases 1 to 553)
  AUTHORS   Pandey DK and Chaudhary B.
  TITLE     Evolutionary expansion and structural functionalism of the ancient
            family of profilin proteins
  JOURNAL   Gene 626, 70-86 (2017)
   PUBMED   28501628
REFERENCE   3  (bases 1 to 553)
  AUTHORS   Piatek MJ, Henderson V, Zynad HS and Werner A.
  TITLE     Natural antisense transcription from a comparative perspective
  JOURNAL   Genomics 108 (2), 56-63 (2016)
   PUBMED   27241791
REFERENCE   4  (bases 1 to 553)
  AUTHORS   Inouye M, Ripatti S, Kettunen J, Lyytikainen LP, Oksala N, Laurila
            PP, Kangas AJ, Soininen P, Savolainen MJ, Viikari J, Kahonen M,
            Perola M, Salomaa V, Raitakari O, Lehtimaki T, Taskinen MR, Jarvelin
            MR, Ala-Korpela M, Palotie A and de Bakker PI.
  TITLE     Novel Loci for metabolic networks and multi-tissue expression
            studies reveal genes for atherosclerosis
  JOURNAL   PLoS Genet 8 (8), e1002907 (2012)
   PUBMED   22916037
REFERENCE   5  (bases 1 to 553)
  AUTHORS   Urabe Y, Tanikawa C, Takahashi A, Okada Y, Morizono T, Tsunoda T,
            Kamatani N, Kohri K, Chayama K, Kubo M, Nakamura Y and Matsuda K.
  TITLE     A genome-wide association study of nephrolithiasis in the Japanese
            population identifies novel susceptible Loci at 5q35.3, 7p14.3, and
            13q14.1
  JOURNAL   PLoS Genet 8 (3), e1002541 (2012)
   PUBMED   22396660
REFERENCE   6  (bases 1 to 553)
  AUTHORS   Kottgen A, Pattaro C, Boger CA, Fuchsberger C, Olden M, Glazer NL,
            Parsa A, Gao X, Yang Q, Smith AV, O'Connell JR, Li M, Schmidt H,
            Tanaka T, Isaacs A, Ketkar S, Hwang SJ, Johnson AD, Dehghan A,
            Teumer A, Pare G, Atkinson EJ, Zeller T, Lohman K, Cornelis MC,
            Probst-Hensch NM, Kronenberg F, Tonjes A, Hayward C, Aspelund T,
            Eiriksdottir G, Launer LJ, Harris TB, Rampersaud E, Mitchell BD,
            Arking DE, Boerwinkle E, Struchalin M, Cavalieri M, Singleton A,
            Giallauria F, Metter J, de Boer IH, Haritunians T, Lumley T,
            Siscovick D, Psaty BM, Zillikens MC, Oostra BA, Feitosa M, Province
            M, de Andrade M, Turner ST, Schillert A, Ziegler A, Wild PS,
            Schnabel RB, Wilde S, Munzel TF, Leak TS, Illig T, Klopp N,
            Meisinger C, Wichmann HE, Koenig W, Zgaga L, Zemunik T, Kolcic I,
            Minelli C, Hu FB, Johansson A, Igl W, Zaboli G, Wild SH, Wright AF,
            Campbell H, Ellinghaus D, Schreiber S, Aulchenko YS, Felix JF,
            Rivadeneira F, Uitterlinden AG, Hofman A, Imboden M, Nitsch D,
            Brandstatter A, Kollerits B, Kedenko L, Magi R, Stumvoll M, Kovacs
            P, Boban M, Campbell S, Endlich K, Volzke H, Kroemer HK, Nauck M,
            Volker U, Polasek O, Vitart V, Badola S, Parker AN, Ridker PM,
            Kardia SL, Blankenberg S, Liu Y, Curhan GC, Franke A, Rochat T,
            Paulweber B, Prokopenko I, Wang W, Gudnason V, Shuldiner AR, Coresh
            J, Schmidt R, Ferrucci L, Shlipak MG, van Duijn CM, Borecki I,
            Kramer BK, Rudan I, Gyllensten U, Wilson JF, Witteman JC,
            Pramstaller PP, Rettig R, Hastie N, Chasman DI, Kao WH, Heid IM and
            Fox CS.
  TITLE     New loci associated with kidney function and chronic kidney disease
  JOURNAL   Nat Genet 42 (5), 376-384 (2010)
   PUBMED   20383146
REFERENCE   7  (bases 1 to 553)
  AUTHORS   Behnen M, Murk K, Kursula P, Cappallo-Obermann H, Rothkegel M,
            Kierszenbaum AL and Kirchhoff C.
  TITLE     Testis-expressed profilins 3 and 4 show distinct functional
            characteristics and localize in the acroplaxome-manchette complex in
            spermatids
  JOURNAL   BMC Cell Biol 10, 34 (2009)
   PUBMED   19419568
  REMARK    GeneRIF: Porfilin 3 has the actin-binding site conserved, but
            retains only approximately half of the common poly-L-proline binding
            site. Publication Status: Online-Only
REFERENCE   8  (bases 1 to 553)
  AUTHORS   Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S,
            Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She
            X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E,
            Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J,
            Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D,
            Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett
            J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D,
            Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M,
            Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S,
            Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N,
            Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A,
            Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM and
            Rubin EM.
  TITLE     The DNA sequence and comparative analysis of human chromosome 5
  JOURNAL   Nature 431 (7006), 268-274 (2004)
   PUBMED   15372022
REFERENCE   9  (bases 1 to 553)
  AUTHORS   Braun A, Aszodi A, Hellebrand H, Berna A, Fassler R and Brandau O.
  TITLE     Genomic organization of profilin-III and evidence for a transcript
            expressed exclusively in testis
  JOURNAL   Gene 283 (1-2), 219-225 (2002)
   PUBMED   11867228
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC132954.1, HY027629.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000358571.3/ ENSP00000351379.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC145098.2, BC132952.1 and
            AA909745.1.
            On Nov 22, 2018 this sequence version replaced NM_001029886.2.
            Summary: The product of this gene belongs to the profilin family of
            proteins. This protein binds to actin and affects the structure of
            the cytoskeleton. It also may be involved in spermatogenesis. It is
            a single exon gene. [provided by RefSeq, Jul 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..553
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     gene            1..553
                     /gene="PFN3"
                     /gene_synonym="profilin-3"
                     /note="profilin 3"
                     /db_xref="GeneID:345456"
                     /db_xref="HGNC:HGNC:18627"
                     /db_xref="MIM:612812"
     CDS             86..499
                     /gene="PFN3"
                     /gene_synonym="profilin-3"
                     /note="profilin III"
                     /codon_start=1
                     /product="profilin-3"
                     /protein_id="NP_001025057.1"
                     /db_xref="CCDS:CCDS34301.1"
                     /db_xref="GeneID:345456"
                     /db_xref="HGNC:HGNC:18627"
                     /db_xref="MIM:612812"
                     /translation="MGDWKVYISAVLRDQRIDDVAIVGHADNSCVWASRPGGLLAAISP
                     QEVGVLTGPDRHTFLQAGLSVGGRRCCVIRDHLLAEGDGVLDARTKGLDARAVCVGRAP
                     RALLVLMGRRGVHGGILNKTVHELIRGLRMQGA"
     regulatory      536..541
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PFN3"
                     /gene_synonym="profilin-3"
                     /note="hexamer: AATAAA"
     polyA_site      553
                     /gene="PFN3"
                     /gene_synonym="profilin-3"
                     /note="major polyA site"
ORIGIN
        1 gcctcacagc gccgcaggcc ttccccgcgt ggcgcctcta tatttccccg agaggtgcga
       61 ggcggctggg cgcactcgga gcgcgatggg cgactggaag gtctacatca gtgcagtgct
      121 gcgggaccag cgcatcgacg acgtggccat cgtgggccat gcggacaaca gctgcgtgtg
      181 ggcttcgcgg cccgggggcc tgctggcggc catctcgccg caggaggtgg gcgtgctcac
      241 ggggccggac aggcacacct tcctgcaggc gggcctgagc gtggggggcc gccgctgctg
      301 cgtcatccgc gaccacctgc tggccgaggg tgacggcgtg ctggacgcac gcaccaaggg
      361 gctggacgcg cgcgccgtgt gcgtgggccg tgcgccgcgc gcgctcctgg tgctaatggg
      421 ccgacgcggc gtacatgggg gcatcctcaa caagacggtg cacgaactca tacgcgggct
      481 gcgcatgcag ggcgcctagc cggccagcca ggccgcccac tggtagcgcg ggccaaataa
      541 actgtgacct ggg
//
LOCUS       NM_001029888             687 bp    mRNA    linear   PRI 12-DEC-2020
DEFINITION  Homo sapiens family with sequence similarity 24 member A (FAM24A),
            mRNA.
ACCESSION   NM_001029888
VERSION     NM_001029888.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.282778.1, BX109949.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368894.2/ ENSP00000357889.1
            RefSeq Select criteria      :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073585.8 and BX109949.1.
            On May 17, 2019 this sequence version replaced NM_001029888.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..687
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.13"
     gene            1..687
                     /gene="FAM24A"
                     /note="family with sequence similarity 24 member A"
                     /db_xref="GeneID:118670"
                     /db_xref="HGNC:HGNC:23470"
     misc_feature    159..161
                     /gene="FAM24A"
                     /note="upstream in-frame stop codon"
     CDS             213..530
                     /gene="FAM24A"
                     /note="protein FAM24A"
                     /codon_start=1
                     /product="protein FAM24A precursor"
                     /protein_id="NP_001025059.1"
                     /db_xref="CCDS:CCDS31304.1"
                     /db_xref="GeneID:118670"
                     /db_xref="HGNC:HGNC:23470"
                     /translation="MAKMFDLRTKIMIGIGSSLLVAAMVLLSVVFCLYFKVAKALKAAK
                     DPDAVAVKNHNPDKVCWATNSQAKATTMESCPSLQCCEGCRMHASSDSLPPCCCDINEG
                     L"
     sig_peptide     213..308
                     /gene="FAM24A"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (A6NFZ4.1)"
     regulatory      663..668
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM24A"
                     /note="hexamer: AATAAA"
     polyA_site      687
                     /gene="FAM24A"
                     /note="major polyA site"
ORIGIN
        1 attctaccag ctctggctga gcctgagctt ccaaaagtga gctgagctgt tcaaccttgg
       61 atcttaatta ctcctagcag ggataattag gtccctcttt ctcagattac aggtttgaga
      121 agttccaaat atccgatgcc ctagaggttt ttttccctta attttattgt tacaattggc
      181 cttcatctag ctctggatgg ttgaactgta gcatggcaaa gatgtttgat ctcaggacga
      241 agatcatgat cggcatcgga agcagcttac tggttgccgc gatggtgctc ctaagtgttg
      301 tgttctgtct ttacttcaaa gtagctaagg cactaaaagc tgcaaaggac cctgatgctg
      361 tggctgtaaa aaatcacaac ccagacaagg tgtgttgggc cacgaacagc caggccaaag
      421 ccaccaccat ggagtcttgt ccatctctcc agtgctgtga aggttgtaga atgcatgcca
      481 gttctgattc cctgccacct tgctgttgtg acataaatga gggcctctga cttgggaaag
      541 ctgggcacaa aaatcttcat gagcaatatt tctttcttaa tagaatgttt tattattcaa
      601 gtcaagttct agagtgttta catactatta tataatgtac agtgttattt tctgtacttc
      661 tgaataaatg tgcaatattg gaaataa
//
LOCUS       NM_001029891            1690 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens phosphoglycerate mutase family member 4 (PGAM4), mRNA.
ACCESSION   NM_001029891
VERSION     NM_001029891.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1690)
  AUTHORS   Jin Q, Pan H, Wang B, Wang J, Liu T, Yu X, Jia C, Fang X, Peng Y and
            Ma X.
  TITLE     The PGAM4 gene in non-obstructive azoospermia
  JOURNAL   Syst Biol Reprod Med 59 (4), 179-183 (2013)
   PUBMED   23631659
  REMARK    GeneRIF: PGAM4 coding region mutations were not observed and the
            G75C polymorphism is not associated with non-obstructive azoospermia
            susceptibility among the Chinese Han population.
REFERENCE   2  (bases 1 to 1690)
  AUTHORS   Okuda H, Tsujimura A, Irie S, Yamamoto K, Fukuhara S, Matsuoka Y,
            Takao T, Miyagawa Y, Nonomura N, Wada M and Tanaka H.
  TITLE     A single nucleotide polymorphism within the novel sex-linked
            testis-specific retrotransposed PGAM4 gene influences human male
            fertility
  JOURNAL   PLoS One 7 (5), e35195 (2012)
   PUBMED   22590500
  REMARK    GeneRIF: PGAM4, an X-linked retrogene, is a fundamental gene in
            human male reproduction and may escape meiotic sex chromosome
            inactivation.
REFERENCE   3  (bases 1 to 1690)
  AUTHORS   Kim SC, Sprung R, Chen Y, Xu Y, Ball H, Pei J, Cheng T, Kho Y, Xiao
            H, Xiao L, Grishin NV, White M, Yang XJ and Zhao Y.
  TITLE     Substrate and functional diversity of lysine acetylation revealed by
            a proteomics survey
  JOURNAL   Mol Cell 23 (4), 607-618 (2006)
   PUBMED   16916647
REFERENCE   4  (bases 1 to 1690)
  AUTHORS   Marques AC, Dupanloup I, Vinckenbosch N, Reymond A and Kaessmann H.
  TITLE     Emergence of young human genes after a burst of retroposition in
            primates
  JOURNAL   PLoS Biol 3 (11), e357 (2005)
   PUBMED   16201836
REFERENCE   5  (bases 1 to 1690)
  AUTHORS   Betran E, Wang W, Jin L and Long M.
  TITLE     Evolution of the phosphoglycerate mutase processed gene in human and
            chimpanzee revealing the origin of a new primate gene
  JOURNAL   Mol Biol Evol 19 (5), 654-663 (2002)
   PUBMED   11961099
REFERENCE   6  (bases 1 to 1690)
  AUTHORS   Dierick HA, Mercer JF and Glover TW.
  TITLE     A phosphoglycerate mutase brain isoform (PGAM 1) pseudogene is
            localized within the human Menkes disease gene (ATP7 A)
  JOURNAL   Gene 198 (1-2), 37-41 (1997)
   PUBMED   9370262
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BX365308.2, BF304193.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000458128.3/ ENSP00000412189.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF465731.1, U76194.1,
            BG875904.1 and AL772330.3.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001029891.2.
            Summary: This intronless gene appears to have arisen from a
            retrotransposition event, yet it is thought to be an expressed,
            protein-coding gene. The encoded protein is a member of the
            phosphoglycerate mutase family, a set of enzymes that catalyze the
            transfer of a phosphate group from 3-phosphoglycerate to
            2-phosphoglycerate. [provided by RefSeq, May 2010].
FEATURES             Location/Qualifiers
     source          1..1690
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.1"
     gene            1..1690
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /note="phosphoglycerate mutase family member 4"
                     /db_xref="GeneID:441531"
                     /db_xref="HGNC:HGNC:21731"
                     /db_xref="MIM:300567"
     CDS             1..765
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /EC_number="5.4.2.4"
                     /EC_number="5.4.2.11"
                     /note="probable phosphoglycerate mutase 4; phosphoglycerate
                     mutase family 3; phosphoglycerate mutase processed protein"
                     /codon_start=1
                     /product="phosphoglycerate mutase 4"
                     /protein_id="NP_001025062.1"
                     /db_xref="CCDS:CCDS35338.1"
                     /db_xref="GeneID:441531"
                     /db_xref="HGNC:HGNC:21731"
                     /db_xref="MIM:300567"
                     /translation="MAAYKLVLIRHGESTWNLENRFSCWYDADLSPAGHEEAKRGGQAL
                     RDAGYEFDICLTSVQKRVIRTLWTVLDAIDQMWLPVVRTWRLNERHYGGLTGLNKAETA
                     AKHGEAQVKIWRRSYDVPPPPMEPDHPFYSNISKDRRYADLTEDQLPSYESPKDTIARA
                     LPFWNEEIVPQIKEGKRVLIAAHGNSLQGIAKHVEGLSEEAIMELNLPTGIPIVYELDK
                     NLKPIKPMQFLGDEETVCKAIEAVAAQGKAKK"
     misc_feature    40..42
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P18669; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1); phosphorylation site"
     misc_feature    67..69
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P18669; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1); phosphorylation site"
     misc_feature    76..78
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P18669; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1); phosphorylation site"
     misc_feature    91..93
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P18669; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1); phosphorylation site"
     misc_feature    316..318
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9DBJ1; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1); acetylation site"
     misc_feature    352..354
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9DBJ1; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1); phosphorylation site"
     misc_feature    556..558
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /note="Transition state stabilizer.
                     /evidence=ECO:0000250|UniProtKB:P00950; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1); other site"
     misc_feature    751..753
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P18669; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1); acetylation site"
     misc_feature    757..759
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P18669; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1); acetylation site"
     misc_feature    760..762
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P18669; propagated from
                     UniProtKB/Swiss-Prot (Q8N0Y7.1); acetylation site"
     regulatory      1321..1326
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /note="hexamer: ATTAAA"
     polyA_site      1341
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /note="major polyA site"
ORIGIN
        1 atggccgcct acaaactggt gctgatccgg cacggcgaga gcacatggaa cctggagaac
       61 cgcttcagct gctggtacga cgccgatctg agcccggcgg gccacgagga ggcgaagcgc
      121 ggcgggcagg cgctacgaga tgctggctat gagtttgaca tctgcctcac ctcagtgcag
      181 aagagagtga tccggaccct ctggacagtg ctagatgcca ttgatcagat gtggctgcca
      241 gtggtgagga cttggcgcct caatgagcgg cactatgggg gtctaaccgg tctcaataaa
      301 gcagaaactg ctgcaaagca tggtgaggcc caggtgaaga tctggaggcg ctcctatgat
      361 gtcccaccac ctccgatgga gcccgaccat cctttctaca gcaacatcag taaggatcgc
      421 aggtatgcag acctcacaga agatcagcta ccctcctatg agagtccgaa ggatactatt
      481 gccagagctc tgcccttctg gaatgaagaa atagttcccc agatcaagga ggggaaacgt
      541 gtactgattg cagcccatgg caacagcctc cagggcattg ccaagcatgt ggagggtctc
      601 tctgaagagg ctatcatgga gctgaacctg ccgactggta ttcccatcgt ctatgaattg
      661 gacaagaact tgaagcctat caagcccatg cagtttctgg gggatgaaga gacggtgtgc
      721 aaagccatag aagctgtggc tgcccagggc aaggccaaga agtgaaggcc agcggggagg
      781 atactgtccc caggagcacc ctccctgctg gtcttgtccc tctgcccctc ccacctgcac
      841 atgtcacact gaccacatct gtagacatct tgagttgtag ctgcagatgg ggaccagtgg
      901 ctcccatttt cattttagcc attttgtcgc ctgcacccac tcccttcata caatctagtc
      961 agaatagcag ttctagagca caggttctca gtctaagctg tggaaaagct ccccttatcc
     1021 aacagagttt aaaagtagtg acttgggttt ttgtgagtgc tttgtttact aaggactttg
     1081 gggaggaaca tgctaagcca cgaccaatga ggagaagcaa cagagcctgt ctgtccccat
     1141 gagcagagtc tgtcctctgc tcttctgcag tcaggccact gcctgggggc tctagtcatt
     1201 ccagtggaag atgaatgtaa tctgcatggt gatgtgacaa ctgtttcctc cttgacccca
     1261 gaggatctgg ctctaggttg ggatcaatcc tgaatttcgt tatgtgttat atttactttt
     1321 attaaaaaag tatagtatat attaataata caaaacaata acccttctgg ggtttcttgt
     1381 ggcggttgaa atagtcccac atgtggtcat cagaaaataa gccattcctc ataccaatat
     1441 aggatcagct ccttgacctc tgaggggcag gagtgcttcc tggtgtgtgt attagaatcc
     1501 cttcctgcct tgtttcatgg cagtgaaatg cctcttggtc ctgtccaagt gtgtctttca
     1561 ctgatttctg aatcatgttc tagttgcttg accctgccac atgggcccag tgttcatctg
     1621 agcataactg tactaaatcc ttttaccaga tcagtataat aaaggagtga tgtgcaatta
     1681 aaaaaaaaaa
//
LOCUS       NM_001029896            1598 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens WD repeat domain 45 (WDR45), transcript variant 2,
            mRNA.
ACCESSION   NM_001029896
VERSION     NM_001029896.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1598)
  AUTHORS   Xiong Q, Sun H, Xing W, Li X, Chen G, Zhao Z, Wu C and Li P.
  TITLE     WDR45 mutation dysregulates iron homeostasis by promoting the
            chaperone-mediated autophagic degradation of ferritin heavy chain in
            an ER stress/p38 dependent mechanism
  JOURNAL   Free Radic Biol Med 201, 89-97 (2023)
   PUBMED   36940732
  REMARK    GeneRIF: WDR45 mutation dysregulates iron homeostasis by promoting
            the chaperone-mediated autophagic degradation of ferritin heavy
            chain in an ER stress/p38 dependent mechanism.
REFERENCE   2  (bases 1 to 1598)
  AUTHORS   Saffari A, Schroter J, Garbade SF, Alecu JE, Ebrahimi-Fakhari D,
            Hoffmann GF, Kolker S, Ries M and Syrbe S.
  TITLE     Quantitative retrospective natural history modeling of WDR45-related
            developmental and epileptic encephalopathy - a systematic
            cross-sectional analysis of 160 published cases
  JOURNAL   Autophagy 18 (7), 1715-1727 (2022)
   PUBMED   34818117
  REMARK    GeneRIF: Quantitative retrospective natural history modeling of
            WDR45-related developmental and epileptic encephalopathy - a
            systematic cross-sectional analysis of 160 published cases.
REFERENCE   3  (bases 1 to 1598)
  AUTHORS   Aring L, Choi EK, Kopera H, Lanigan T, Iwase S, Klionsky DJ and Seo
            YA.
  TITLE     A neurodegeneration gene, WDR45, links impaired ferritinophagy to
            iron accumulation
  JOURNAL   J Neurochem 160 (3), 356-375 (2022)
   PUBMED   34837396
  REMARK    GeneRIF: A neurodegeneration gene, WDR45, links impaired
            ferritinophagy to iron accumulation.
REFERENCE   4  (bases 1 to 1598)
  AUTHORS   Lee HE, Jung MK, Noh SG, Choi HB, Chae SH, Lee JH and Mun JY.
  TITLE     Iron Accumulation and Changes in Cellular Organelles in WDR45 Mutant
            Fibroblasts
  JOURNAL   Int J Mol Sci 22 (21), 11650 (2021)
   PUBMED   34769084
  REMARK    GeneRIF: Iron Accumulation and Changes in Cellular Organelles in
            WDR45 Mutant Fibroblasts. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1598)
  AUTHORS   Proikas-Cezanne T, Waddell S, Gaugel A, Frickey T, Lupas A and
            Nordheim A.
  TITLE     WIPI-1alpha (WIPI49), a member of the novel 7-bladed WIPI protein
            family, is aberrantly expressed in human cancer and is linked to
            starvation-induced autophagy
  JOURNAL   Oncogene 23 (58), 9314-9325 (2004)
   PUBMED   15602573
REFERENCE   6  (bases 1 to 1598)
  AUTHORS   Jeffries TR, Dove SK, Michell RH and Parker PJ.
  TITLE     PtdIns-specific MPR pathway association of a novel WD40 repeat
            protein, WIPI49
  JOURNAL   Mol Biol Cell 15 (6), 2652-2663 (2004)
   PUBMED   15020712
REFERENCE   7  (bases 1 to 1598)
  AUTHORS   Clark AG, Glanowski S, Nielsen R, Thomas PD, Kejariwal A, Todd MA,
            Tanenbaum DM, Civello D, Lu F, Murphy B, Ferriera S, Wang G, Zheng
            X, White TJ, Sninsky JJ, Adams MD and Cargill M.
  TITLE     Inferring nonneutral evolution from human-chimp-mouse orthologous
            gene trios
  JOURNAL   Science 302 (5652), 1960-1963 (2003)
   PUBMED   14671302
REFERENCE   8  (bases 1 to 1598)
  AUTHORS   Gregory,A., Kurian,M.A., Haack,T., Hayflick,S.J. and Hogarth,P.
  TITLE     Beta-Propeller Protein-Associated Neurodegeneration
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   28211668
REFERENCE   9  (bases 1 to 1598)
  AUTHORS   Gregory,A. and Hayflick,S.
  TITLE     Neurodegeneration with Brain Iron Accumulation Disorders Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   23447832
REFERENCE   10  (bases 1 to 1598)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.981492.1,
            SRR3476690.14986.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000376372.9/ ENSP00000365551.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ068083.1, AJ005897.1 and
            BC035979.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001029896.1.
            Summary: This gene encodes a member of the WD repeat protein
            family. WD repeats are minimally conserved regions of approximately
            40 amino acids typically bracketed by gly-his and trp-asp (GH-WD),
            which may facilitate formation of heterotrimeric or multiprotein
            complexes. Members of this family are involved in a variety of
            cellular processes, including cell cycle progression, signal
            transduction, apoptosis, and gene regulation. This gene has a
            pseudogene at chromosome 4q31.3. Multiple alternatively spliced
            transcript variants encoding distinct isoforms have been found for
            this gene, but the biological validity and full-length nature of
            some variants have not been determined. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (2) has an alternate 5' UTR and
            lacks a 3-nt segment in the CDS, as compared to variant 1. The
            encoded isoform 2 thus lacks an internal amino acid, as compared to
            isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1598
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..1598
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="WD repeat domain 45"
                     /db_xref="GeneID:11152"
                     /db_xref="HGNC:HGNC:28912"
                     /db_xref="MIM:300526"
     misc_feature    104..106
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="upstream in-frame stop codon"
     CDS             155..1237
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="isoform 2 is encoded by transcript variant 2; WD
                     repeat domain, X-linked 1; neurodegeneration with brain
                     iron accumulation 4; neurodegeneration with brain iron
                     accumulation 5; WD repeat domain
                     phosphoinositide-interacting protein 4; WD45 repeat protein
                     interacting with phosphoinositides 4; WD repeat-containing
                     protein 45"
                     /codon_start=1
                     /product="WD repeat domain phosphoinositide-interacting
                     protein 4 isoform 2"
                     /protein_id="NP_001025067.1"
                     /db_xref="CCDS:CCDS35250.1"
                     /db_xref="GeneID:11152"
                     /db_xref="HGNC:HGNC:28912"
                     /db_xref="MIM:300526"
                     /translation="MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLDH
                     EQVGSMGLVEMLHRSNLLALVGGGSSPKFSEISVLIWDDAREGKDSKEKLVLEFTFTKP
                     VLSVRMRHDKIVIVLKNRIYVYSFPDNPRKLFEFDTRDNPKGLCDLCPSLEKQLLVFPG
                     HKCGSLQLVDLASTKPGTSSAPFTINAHQSDIACVSLNQPGTVVASASQKGTLIRLFDT
                     QSKEKLVELRRGTDPATLYCINFSHDSSFLCASSDKGTVHIFALKDTRLNRRSALARVG
                     KVGPMIGQYVDSQWSLASFTVPAESACICAFGRNTSKNVNSVIAICVDGTFHKYVFTPD
                     GNCNREAFDVYLDICDDDDF"
     misc_feature    155..256
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y484.1);
                     Region: WD 1"
     misc_feature    272..406
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y484.1);
                     Region: WD 2"
     misc_feature    428..538
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y484.1);
                     Region: WD 3"
     misc_feature    551..676
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y484.1);
                     Region: WD 4"
     misc_feature    701..820
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y484.1);
                     Region: WD 5"
     misc_feature    833..952
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y484.1);
                     Region: WD 6"
     misc_feature    845..856
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y484.1);
                     Region: L/FRRG motif.
                     /evidence=ECO:0000250|UniProtKB:Q9Y4P8"
     misc_feature    1004..1141
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y484.1);
                     Region: WD 7"
     regulatory      1378..1383
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="hexamer: AATAAA"
     polyA_site      1400
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="major polyA site"
     regulatory      1578..1583
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="hexamer: AATAAA"
     polyA_site      1598
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="major polyA site"
ORIGIN
        1 aaacacccga gccgggctcc aaggcccggg aggtcagaaa accgggccgc gggcggcacc
       61 gacagctggg gcccgggtca gggacacgcg gaggtcaggc cggtgaaggc ggcaggaagc
      121 tggagcacga tcccaggagg aacaatcctg caccatgact caacagccac ttcgaggagt
      181 gaccagcctg cgtttcaacc aagaccaaag ctgcttttgc tgcgccatgg agacaggtgt
      241 gcgcatctac aacgtggagc ccttgatgga gaaggggcat ctggaccacg agcaggtggg
      301 cagcatgggc ttggtggaga tgctgcaccg ctccaacctt ctggccttgg tgggcggtgg
      361 tagtagtccc aagttctcag agatctcagt gctgatctgg gacgatgccc gggagggcaa
      421 ggactccaag gagaagctgg tgctggagtt caccttcacc aagccagtgc tttctgtgcg
      481 catgcgccat gacaagatcg tgatcgtgct gaagaaccgc atctatgtgt actccttccc
      541 cgacaatccc cgaaagctgt ttgagtttga tacccgggac aaccccaagg ggctctgtga
      601 cctctgcccc agcctggaga agcaactgct agtgttcccg ggacacaagt gtgggagtct
      661 gcaacttgtg gacctggcga gcacaaagcc tggcacctcg tctgctccat tcacgatcaa
      721 tgcacatcag agtgacatag cctgtgtgtc tctaaaccag ccaggcactg tagtggcctc
      781 agcctcccag aagggtaccc ttattcgcct ctttgacaca caatccaagg agaaactggt
      841 ggagctgcgc cgaggcactg accctgccac cctctactgc attaacttca gccacgactc
      901 ctccttcctc tgcgcttcca gtgataaggg tactgtccat atctttgctc tcaaggatac
      961 ccgcctcaac cgccgctccg cgctggctcg cgtgggcaag gtggggccta tgattgggca
     1021 gtacgtggac tctcagtgga gcctggcgag cttcactgtg cctgctgagt cagcttgcat
     1081 ctgcgccttc ggtcgcaata cttccaagaa cgtcaactct gtcattgcca tctgcgtaga
     1141 tgggaccttc cacaaatatg tcttcactcc tgatggaaac tgcaacagag aggctttcga
     1201 cgtgtacctt gacatctgtg atgatgatga cttttaagga ccctgggggc tgtgctaggg
     1261 acctgcagtg gcagaactgc agagctgagc cttggcagtg gggcgtgctt ggaagccacc
     1321 agccagcaag cattaatggg gctggtgccc actttccact cagcagagct atgtctaaat
     1381 aaagagctca cttcccccca gcacttcttg atgactgtgt gccccaaggg ccaggccaga
     1441 gacccaggaa ggcagcgacc ccttgggatc cctaacctgg aggaaattgc cagggaccca
     1501 gagggagtgc cctaatccaa cctggggatt ttttaaaagc ttcctaggaa gagatgatct
     1561 ccgatgtgat gaatacgaat aaaaggccct taatggca
//
LOCUS       NM_001029954            1390 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens cerebral dopamine neurotrophic factor (CDNF), mRNA.
ACCESSION   NM_001029954
VERSION     NM_001029954.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1390)
  AUTHORS   Konovalova J, Gerasymchuk D, Arroyo SN, Kluske S, Mastroianni F,
            Pereyra AV and Domanskyi A.
  TITLE     Human-Specific Regulation of Neurotrophic Factors MANF and CDNF by
            microRNAs
  JOURNAL   Int J Mol Sci 22 (18), 9691 (2021)
   PUBMED   34575854
  REMARK    GeneRIF: Human-Specific Regulation of Neurotrophic Factors MANF and
            CDNF by microRNAs. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1390)
  AUTHORS   Albert K, Raymundo DP, Panhelainen A, Eesmaa A, Shvachiy L, Araujo
            GR, Chmielarz P, Yan X, Singh A, Cordeiro Y, Palhano FL, Foguel D,
            Luk KC, Domanskyi A, Voutilainen MH, Huttunen HJ, Outeiro TF, Saarma
            M, Almeida MS and Airavaara M.
  TITLE     Cerebral dopamine neurotrophic factor reduces alpha-synuclein
            aggregation and propagation and alleviates behavioral alterations in
            vivo
  JOURNAL   Mol Ther 29 (9), 2821-2840 (2021)
   PUBMED   33940158
  REMARK    GeneRIF: Cerebral dopamine neurotrophic factor reduces
            alpha-synuclein aggregation and propagation and alleviates
            behavioral alterations in vivo.
REFERENCE   3  (bases 1 to 1390)
  AUTHORS   Eremin DV, Ilchibaeva TV and Tsybko AS.
  TITLE     Cerebral Dopamine Neurotrophic Factor (CDNF): Structure, Functions,
            and Therapeutic Potential
  JOURNAL   Biochemistry (Mosc) 86 (7), 852-866 (2021)
   PUBMED   34284712
  REMARK    GeneRIF: Cerebral Dopamine Neurotrophic Factor (CDNF): Structure,
            Functions, and Therapeutic Potential. Review article
REFERENCE   4  (bases 1 to 1390)
  AUTHORS   Jaumotte JD, Saarma M and Zigmond MJ.
  TITLE     Protection of dopamine neurons by CDNF and neurturin variant N4
            against MPP+ in dissociated cultures from rat mesencephalon
  JOURNAL   PLoS One 16 (2), e0245663 (2021)
   PUBMED   33534843
  REMARK    GeneRIF: Protection of dopamine neurons by CDNF and neurturin
            variant N4 against MPP+ in dissociated cultures from rat
            mesencephalon. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1390)
  AUTHORS   Joshi H, McIntyre WB, Kooner S, Rathbone M, Gabriele S, Gabriele J,
            Baranowski D, Frey BN and Mishra RK.
  TITLE     Decreased Expression of Cerebral Dopamine Neurotrophic Factor in
            Platelets of Stroke Patients
  JOURNAL   J Stroke Cerebrovasc Dis 29 (1), 104502 (2020)
   PUBMED   31744764
  REMARK    GeneRIF: Cerebral dopamine neurotrophic factor gene expression was
            significantly reduced in stroke patients relative to control
            subjects.
REFERENCE   6  (bases 1 to 1390)
  AUTHORS   Choi JM, Hong JH, Chae MJ, Ngyuen PH, Kang HS, Ma HI and Kim YJ.
  TITLE     Analysis of mutations and the association between polymorphisms in
            the cerebral dopamine neurotrophic factor (CDNF) gene and Parkinson
            disease
  JOURNAL   Neurosci Lett 493 (3), 97-101 (2011)
   PUBMED   21320571
  REMARK    GeneRIF: Although no CDNF mutations are found in early-onset
            Parkinson's disease patient samples, a trend towards increased risk
            for Parkinson's in carriers of the C allele of rs7094179 single
            nucleotide polymorphism (SNP) is found.
REFERENCE   7  (bases 1 to 1390)
  AUTHORS   Lohoff FW, Bloch PJ, Ferraro TN, Berrettini WH, Pettinati HM, Dackis
            CA, O'Brien CP, Kampman KM and Oslin DW.
  TITLE     Association analysis between polymorphisms in the conserved dopamine
            neurotrophic factor (CDNF) gene and cocaine dependence
  JOURNAL   Neurosci Lett 453 (3), 199-203 (2009)
   PUBMED   19429035
  REMARK    GeneRIF: Study suggests that there is no association between
            variants in the CDNF gene and cocaine dependence. GeneRIF:
            Observational study of gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 1390)
  AUTHORS   Parkash V, Lindholm P, Peranen J, Kalkkinen N, Oksanen E, Saarma M,
            Leppanen VM and Goldman A.
  TITLE     The structure of the conserved neurotrophic factors MANF and CDNF
            explains why they are bifunctional
  JOURNAL   Protein Eng Des Sel 22 (4), 233-241 (2009)
   PUBMED   19258449
  REMARK    GeneRIF: structures of MANF and CDNF were solved; structure explains
            why MANF and CDNF are bifunctional; neurotrophic activity may reside
            in the N-terminal domain and ER stress response in the C-terminal
            domain
REFERENCE   9  (bases 1 to 1390)
  AUTHORS   Lindholm P, Voutilainen MH, Lauren J, Peranen J, Leppanen VM,
            Andressoo JO, Lindahl M, Janhunen S, Kalkkinen N, Timmusk T,
            Tuominen RK and Saarma M.
  TITLE     Novel neurotrophic factor CDNF protects and rescues midbrain
            dopamine neurons in vivo
  JOURNAL   Nature 448 (7149), 73-77 (2007)
   PUBMED   17611540
  REMARK    GeneRIF: expressed in several tissues; might be beneficial for the
            treatment of Parkinson's disease
REFERENCE   10  (bases 1 to 1390)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N, Klika
            A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DC391788.1, SRR1660803.244857.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467146
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000465530.2/ ENSP00000419395.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC069544.9, AV657190.1, CN311321.1, BG213461.1, BQ025443.1 and
            AK131035.1.
            On Nov 23, 2018 this sequence version replaced NM_001029954.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1390
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p13"
     gene            1..1390
                     /gene="CDNF"
                     /gene_synonym="ARMETL1"
                     /note="cerebral dopamine neurotrophic factor"
                     /db_xref="GeneID:441549"
                     /db_xref="HGNC:HGNC:24913"
                     /db_xref="MIM:611233"
     misc_feature    74..76
                     /gene="CDNF"
                     /gene_synonym="ARMETL1"
                     /note="upstream in-frame stop codon"
     CDS             92..655
                     /gene="CDNF"
                     /gene_synonym="ARMETL1"
                     /note="conserved dopamine neurotrophic factor;
                     arginine-rich, mutated in early stage tumors-like 1;
                     ARMET-like protein 1"
                     /codon_start=1
                     /product="cerebral dopamine neurotrophic factor precursor"
                     /protein_id="NP_001025125.2"
                     /db_xref="CCDS:CCDS31148.1"
                     /db_xref="GeneID:441549"
                     /db_xref="HGNC:HGNC:24913"
                     /db_xref="MIM:611233"
                     /translation="MWCASPVAVVAFCAGLLVSHPVLTQGQEAGGRPGADCEVCKEFLN
                     RFYKSLIDRGVNFSLDTIEKELISFCLDTKGKENRLCYYLGATKDAATKILSEVTRPMS
                     VHMPAMKICEKLKKLDSQICELKYEKTLDLASVDLRKMRVAELKQILHSWGEECRACAE
                     KTDYVNLIQELAPKYAATHPKTEL"
     sig_peptide     92..169
                     /gene="CDNF"
                     /gene_synonym="ARMETL1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      1074..1079
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDNF"
                     /gene_synonym="ARMETL1"
                     /note="hexamer: AATACA"
     polyA_site      1104
                     /gene="CDNF"
                     /gene_synonym="ARMETL1"
                     /note="major polyA site"
     regulatory      1348..1353
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDNF"
                     /gene_synonym="ARMETL1"
                     /note="hexamer: ATTAAA"
     regulatory      1358..1363
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDNF"
                     /gene_synonym="ARMETL1"
                     /note="hexamer: ATTAAA"
     polyA_site      1367
                     /gene="CDNF"
                     /gene_synonym="ARMETL1"
                     /note="major polyA site"
     polyA_site      1390
                     /gene="CDNF"
                     /gene_synonym="ARMETL1"
ORIGIN
        1 ctttccaacc tcgaattctg ctcagctcgc tttggcagct tggtgggcgg tgggcgcggg
       61 tggcggaggc gattgaagct gctggcccag catgtggtgc gcgagcccag ttgctgtggt
      121 ggccttttgc gccgggcttt tggtctctca cccggtgctg acgcagggcc aggaggccgg
      181 ggggcggcca ggggccgact gtgaagtatg taaagaattc ttgaaccgat tctacaagtc
      241 actgatagac agaggagtta acttttcgct ggacactata gagaaagaat tgatcagttt
      301 ttgcttggac accaaaggaa aagaaaaccg cctgtgctat tatctaggag ccacaaaaga
      361 cgcagccaca aagatcctaa gtgaagtcac tcgcccaatg agtgtgcata tgcctgcaat
      421 gaagatttgt gagaagctga agaagttgga tagccagatc tgtgagctga aatatgaaaa
      481 aacactggac ttggcatcag ttgacctgcg gaagatgaga gtggcagagc tgaagcagat
      541 cctgcatagc tggggggagg agtgcagggc ctgtgcagaa aaaactgact atgtgaatct
      601 cattcaagag ctggccccca agtatgcagc gacacacccc aaaacagagc tctgatctcc
      661 aatgccagca catttgtgac ttgtaattag agagaaaagt gactctctag gatatggaca
      721 tgttgattaa ggataactgg gaatgcatca tatttggtct catgcttttt gtgttggtat
      781 tattcctcag aattttgtta cgtgggttta tgagtgaaac taatactact gataacttac
      841 atttgcagtg taccaaaagc taaaagttcc tttctcataa gtttcttgga atgactatgc
      901 cagttttcat tgcctgtctc ctaaaagtga cctactgaca aattgatgga gtaaattgat
      961 tccaagaaag aagaaggcat tcagagactc ctctctggat gcaattttaa aatatattgg
     1021 actaaaacaa aagacacaac agtcagctta tctaatgcac aacttcaatc ccaaatacag
     1081 aatcaaaagt ttttttcaag tgaattttct gttttcactc tatattgtag ctctctttgg
     1141 tatcagaaat ggtcaggcag gagtactcgt ttttcccatt ggaagaaaac ccacttaaac
     1201 ctacttaaag aaaatagaga gatcaagaaa ccgtataagt atagccaatg tttggcaatt
     1261 atatcaacat ttacattgtt aattgaacca agctcaaggt ctttttcatt ccttacagtc
     1321 acatatcaga caagtttttg atggaagatt aaagcatatt aaaaacactc ataggcaact
     1381 tggaacttta
//
LOCUS       NM_001029955            4710 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens DDB1 and CUL4 associated factor 4 like 1 (DCAF4L1),
            mRNA.
ACCESSION   NM_001029955
VERSION     NM_001029955.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4710)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (bases 1 to 4710)
  AUTHORS   Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R,
            Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T,
            Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K,
            Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T,
            Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T
            and Sugano S.
  TITLE     Diversification of transcriptional modulation: large-scale
            identification and characterization of putative alternative
            promoters of human genes
  JOURNAL   Genome Res 16 (1), 55-65 (2006)
   PUBMED   16344560
REFERENCE   3  (bases 1 to 4710)
  AUTHORS   Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R,
            Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine
            M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J,
            Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K,
            Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T,
            Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi
            T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato
            K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H,
            Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S,
            Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta
            T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO,
            Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N,
            Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y,
            Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H,
            Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A,
            Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T,
            Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai
            A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H,
            Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M,
            Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y,
            Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K,
            Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M,
            Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano
            J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T,
            Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T,
            Nakamura Y, Ohara O, Isogai T and Sugano S.
  TITLE     Complete sequencing and characterization of 21,243 full-length human
            cDNAs
  JOURNAL   Nat Genet 36 (1), 40-45 (2004)
   PUBMED   14702039
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC052943.1, AK122914.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000333141.7/ ENSP00000327796.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB100231.1, AC106052.4, BC104224.1 and BC052943.1.
            On Nov 22, 2018 this sequence version replaced NM_001029955.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4710
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p13"
     gene            1..4710
                     /gene="DCAF4L1"
                     /gene_synonym="WDR21B"
                     /note="DDB1 and CUL4 associated factor 4 like 1"
                     /db_xref="GeneID:285429"
                     /db_xref="HGNC:HGNC:27723"
     CDS             38..1228
                     /gene="DCAF4L1"
                     /gene_synonym="WDR21B"
                     /note="WD repeat domain 21B; WD repeat-containing protein
                     21B"
                     /codon_start=1
                     /product="DDB1- and CUL4-associated factor 4-like protein
                     1"
                     /protein_id="NP_001025126.2"
                     /db_xref="CCDS:CCDS33978.1"
                     /db_xref="GeneID:285429"
                     /db_xref="HGNC:HGNC:27723"
                     /translation="MEAERLRLLEEEAKLKKVARMGFNASSMLRKSQLGFLNVTSYSRL
                     ANELRVSCMERKKVQIRSLDPSSLASDRFNFILASTNSDQLFVVNQVEVEGSKYGIISL
                     RTLKIPSFHVYVLRNLYVPNRKVKSLCWASLNQLDSHVLLCFEGITDAPSCAVLLPASR
                     FLSVHTRVNQPGMLCSFQIPEAWSCAWSLNTRAYHCFSAGLSQQVLLTSVATGHQQSFD
                     TSSDVLAQQFASTAPLLFNGCRSGEIFAIDLRCRNRGKGWRATRLFHDSAVTSVQILQE
                     EQCLMASDMTGKIKLWDLRATKCVRQYEGHVNESAYLPLHVHEEEGIVVAVGQDCYTRI
                     WSLHDAHLLRTIPSPYSASEDDIPSVAFASRLGGIRGAAPGLLMAVRQDLYCFPFS"
     misc_feature    839..958
                     /gene="DCAF4L1"
                     /gene_synonym="WDR21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SXM0.1);
                     Region: WD 1"
     misc_feature    971..1090
                     /gene="DCAF4L1"
                     /gene_synonym="WDR21B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SXM0.1);
                     Region: WD 2"
     regulatory      4687..4692
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCAF4L1"
                     /gene_synonym="WDR21B"
                     /note="hexamer: AATAAA"
     polyA_site      4710
                     /gene="DCAF4L1"
                     /gene_synonym="WDR21B"
                     /note="major polyA site"
ORIGIN
        1 agaatttcct gtcacgagga acattccgca ggaggaaatg gaggctgaaa ggctgcgact
       61 cctcgaggaa gaggccaagc tgaaaaaggt agccagaatg ggatttaatg catcttccat
      121 gctccgaaaa agccagctag gtttcctcaa cgtcaccagt tactcccgtt tagccaacga
      181 gctgcgtgtg agctgcatgg agcggaaaaa ggtccaaatt cggagcttgg atccctcctc
      241 tttggcgagc gaccgattta acttcattct ggcgagtacc aacagcgacc agctcttcgt
      301 agtgaaccag gtcgaagtcg aaggctccaa gtacggcatc atcagcctgc gaactctgaa
      361 gatcccttcg ttccacgtgt acgtgctcag aaacctctac gtccccaacc ggaaggtgaa
      421 gtccctgtgc tgggcctcgc tgaaccagtt ggactctcac gttctgctgt gcttcgaggg
      481 aatcacagat gctccaagct gtgcagtgct gctcccagcg tcgcggttct taagtgttca
      541 cacaagagtt aaccagcctg gcatgctctg cagtttccag atcccagagg cctggtcctg
      601 tgcgtggtcc ctcaacaccc gggcatatca ctgctttagt gcaggcttgt ctcagcaggt
      661 cctgttgacc agcgtggcga cgggacacca gcagtcattt gataccagca gtgatgtctt
      721 ggcccagcag tttgctagta cggctccttt gctgtttaat ggctgtcgct ccggggagat
      781 ctttgccatt gatctgcgtt gtagaaatcg aggcaagggg tggagggcca ctcgcctgtt
      841 ccatgactca gcagtgacct ctgtgcaaat cctccaagaa gagcaatgcc tgatggcatc
      901 agacatgact ggaaagatca agctgtggga tctgagggcc actaaatgtg taaggcagta
      961 cgaaggtcac gtgaatgagt ccgcctatct gcccctgcat gtgcacgagg aagagggaat
     1021 cgtggtggca gtgggccagg actgctacac gagaatctgg agcctccatg atgcccacct
     1081 gctcagaacc atcccttccc cgtactctgc ctccgaggac gacattccca gcgtggcctt
     1141 cgcttctcgg ctcgggggca tccggggagc agcaccaggg ctgctcatgg ctgtccggca
     1201 ggacctttat tgtttcccct tcagctaatt ctgcaggtgg cagcgcggcc gaatgtggat
     1261 ttgacttaag gaagttaaga gtatcttatt accgtttctg tgagagcatt ttaagagacg
     1321 tgttgtatat agatcgcatc catccggctg ccaggggtaa ggtgttaaga gttttatgtg
     1381 gagacgttct tgtaaagtta tttcagttaa actgtggact taacttgaaa gtccttttca
     1441 taaaaggtac ctgtttcctc ttgttgaatg ccttagaaca gttaaccacc tccccaaccc
     1501 tttttttttt taaataatta agacttttct aaggactgaa gattggcaaa aactaaaata
     1561 aattaaagca gcttctttca ctagtagccc tttagagaag cataatgatg gtactggtaa
     1621 gactgtttga ctaatcatac agggtcccag gcatctgcgc ttgaggaagc cagtgggagt
     1681 ggagacaagg gagaggtaat ttctcagagt ctctacagaa atatttaagg ctggagtttg
     1741 gaatcattaa atttggcctt ctcaaactca atagcagatc tcttaaggtt ctccttttat
     1801 tgttatcatc cataggcatt ggaaggaaag atggatcttt ttaaatacta gaagttttaa
     1861 acagtccttg atgtgctttt gttgaggtac ctttcagaat gtaaggtaca gcagctccgg
     1921 tttctattat ggtgacttga agttcagatt caaggaattg gctttgactt tttgtaatct
     1981 aggagcagca gtttgtgaga gatttattaa aaatgttaaa gagcctgttt ttctactaag
     2041 caaggaagaa aaaaaacgtg taataaggtt agttgctact tcttaatagc caaagcctgg
     2101 aaatgatctg aatttcgaaa atgctaaaat tcgtgatata atcatacaat cggatactgc
     2161 ataataatag aaaataaggc acacttgcta tgtgaaacag tatggaccaa tctcaacatg
     2221 ttgactgaaa ttaggtagaa atgagtacaa actgtatgat tcaattctaa agttcaaaag
     2281 cagtaaaaac ttgtctatgg tgattaaagg tagagtagta cgtacctctg tagaaagaaa
     2341 ggattttttt ttctttttct ttttaggatg tttgagaagt gacatgggga agctttagga
     2401 atgctgagtt ttctttatct tgacacttga tacatacgta attcatatat ctatatgctt
     2461 cacgttttta tagtttactg tatatatgtt attcctcaaa aaataaaaat aagcaattag
     2521 gacactattg tagttaggca agggacaatg atgccttgga cctgcatgtg tgagaagtag
     2581 aaatgatcag aaatgattgc attggaagat cattcgaagg tagtattatt gataaggctt
     2641 gctgatgaga gtaaactaga aagtgaaaga aaaaaggatg gcagcttttt tttttttttt
     2701 tttgagacgg agtctccttc tgtcgcccag gctggagtgc agtggcgcga tctcggctca
     2761 ctgcaagctc tgaggatggc agcttttttg ttaactttag aactggtaga tgatggtgtc
     2821 gtttactaac ctggggagga tgaggagaaa aaactttagg tgaagggaat gatgctgagt
     2881 tttagacatc tactaaacct ccaattggag atacaaagta ttctgcagat caggggtcat
     2941 gtcatggctg gtaatacaaa tttggtgact tcaatacata gaattaaaat agatgggata
     3001 gatgtgcttt atatgacata gatgaggtta atgtaattac atattgatag aagatgagta
     3061 gatcaataga gaagatatgg gagtatggtt aggcacagat ttttggaatc ctttcagtca
     3121 gttttttata ctaacttgat atgtgacatg agaaattgtg taagctttac ttgctgttgt
     3181 ttcttcagtg taaaatgtct tagataataa aactaaatga taaagtagat acagggttaa
     3241 aggatatgta tcttgtccct tttacattgt aagcattcaa aataaaacaa aacaattaat
     3301 gaagaaaaga cattgcaatc attcagtaag aactagctgc agacatatat atgtatatat
     3361 atatatgtct gatactgata tgtcatttat ttggcaattg acaaaaaatg actacataac
     3421 ttgataaact gtttatcctc atttgcaaag aaaacaaatg caaaaaaaaa atcagtaaga
     3481 aaaacacacc taaaagaaag ggaggcaata gtcttgaata ggagaaaaag aggagatcca
     3541 aatggctaat atacatttga aaaggcatcc aacttctttt attgtcaagg aaatgcaaat
     3601 taaaaccaca atgccacacc actttcacta taatggttaa aataaaatag atcaggtgga
     3661 gtgacgttgg gaattaaaag agaagcaaat gttggtgcag ttgtgagcaa atagaacttt
     3721 catatactgt tgagtgtata ctggtacaag cacttggaaa agttagtaat tgctaaagct
     3781 agaagtttgc atactctatg acccagtcat ttcagtccta ggaatatatt aatcagaaat
     3841 gcatacctgt gtccaccata atttgttaat agctccaact ggaaactacc caaatgttca
     3901 ttaatagtag agtggataaa ttgtgggata ttaacacaat ggaatccttt ttgcagtgag
     3961 aatgagcata gcactatgga caaatcctgc aaacataatg ttgaaataaa gatgccaaac
     4021 acaaaagagc acatattgta caactaatgc acataaagtc cctaaacagg caaaatgaat
     4081 ctatgttctt agaagcagga ttaatggtat acttgtaggg cagaagagta gtgaccagaa
     4141 gaagattcta ggaagctagc aatgctggtg tcatgccaga cccctagtga ctccaatagt
     4201 aatggcactg tgtccgagag tccaaagaag atgcgtagac agcgaacaag acttgggttt
     4261 attgggggaa cttatatata gggatggtcc agtggtagta ggctggacag aagaaccact
     4321 actgtttgta aaaagcatgc agtttatata gcattttcat ttagcacact ccacctagca
     4381 acctccattt aacccaaagc aaaggacctt gatcccctat attgcctgtg ttgtaaggga
     4441 tgggctgggg gttcagacgt ccttcataga taaggagtga aactcagggt tagtcgctcc
     4501 tgtttcctta gtttgggatt ctgagcacac attcgtttta gatcacaggg tcgttctcag
     4561 gatatggttg ttactgctgt caggtgcatc ctctctatag cggggtactg gctacacagt
     4621 ttttgttcac tagtgataat tgttagagct atgcccttaa tatatgtctt gtgtgtatta
     4681 tacttcaata aaaagttaaa ttttaaaaaa
//
LOCUS       NM_001029997            5792 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1,
            mRNA.
ACCESSION   NM_001029997
VERSION     NM_001029997.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5792)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   2  (bases 1 to 5792)
  AUTHORS   Wang R, Cukerman E, Heng HH and Liew CC.
  TITLE     Identification of a locus of zinc finger genes in human chromosome
            19q13.1-q13.3 region by fluorescence in situ hybridization
  JOURNAL   Somat Cell Mol Genet 22 (3), 245-248 (1996)
   PUBMED   8914611
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.213776.1,
            SRR1660809.238763.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000492450.3/ ENSP00000420727.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC020910.7, DC304794.1, DC299701.1, BC104759.1, AK297316.1 and
            AI800428.1.
            On Nov 23, 2018 this sequence version replaced NM_001029997.3.
            Summary: Zinc finger proteins have been shown to interact with
            nucleic acids and to have diverse functions. The zinc finger domain
            is a conserved amino acid sequence motif containing 2 specifically
            positioned cysteines and 2 histidines that are involved in
            coordinating zinc. Kruppel-related proteins form 1 family of zinc
            finger proteins. See MIM 604749 for additional information on zinc
            finger proteins.[supplied by OMIM, Jul 2003].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5792
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..5792
                     /gene="ZNF181"
                     /gene_synonym="HHZ181"
                     /note="zinc finger protein 181"
                     /db_xref="GeneID:339318"
                     /db_xref="HGNC:HGNC:12971"
                     /db_xref="MIM:606741"
     misc_feature    748..750
                     /gene="ZNF181"
                     /gene_synonym="HHZ181"
                     /note="upstream in-frame stop codon"
     CDS             796..2511
                     /gene="ZNF181"
                     /gene_synonym="HHZ181"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="zinc finger protein 181 isoform 1"
                     /protein_id="NP_001025168.2"
                     /db_xref="CCDS:CCDS32990.2"
                     /db_xref="GeneID:339318"
                     /db_xref="HGNC:HGNC:12971"
                     /db_xref="MIM:606741"
                     /translation="MPQVTFNDVAIDFTHEEWGWLSSAQRDLYKDVMVQNYENLVSVAG
                     LSVTKPYVITLLEDGKEPWMMEKKLSKGMIPDWESRWENKELSTKKDNYDEDSPQTVII
                     EKVVKQSYEFSNSKKNLEYIEKLEGKHGSQVDHFRPAILTSRESPTADSVYKYNIFRST
                     FHSKSTLSEPQKISAEGNSHKYDILKKNLPKKSVIKNEKVNGGKKLLNSNKSGAAFSQG
                     KSLTLPQTCNREKIYTCSECGKAFGKQSILNRHWRIHTGEKPYECRECGKTFSHGSSLT
                     RHLISHSGEKPYKCIECGKAFSHVSSLTNHQSTHTGEKPYECMNCGKSFSRVSHLIEHL
                     RIHTQEKLYECRICGKAFIHRSSLIHHQKIHTGEKPYECRECGKAFCCSSHLTRHQRIH
                     TMEKQYECNKCLKVFSSLSFLVQHQSIHTEEKPFECQKCRKSFNQLESLNMHLRNHIRL
                     KPYECSICGKAFSHRSSLLQHHRIHTGEKPYECIKCGKTFSCSSNLTVHQRIHTGEKPY
                     KCNECGKAFSKGSNLTAHQRVHNGEKPNSVVSVEKPLDYMNHYTCEKSYRRETV"
     regulatory      3261..3266
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF181"
                     /gene_synonym="HHZ181"
                     /note="hexamer: AATAAA"
     polyA_site      3286
                     /gene="ZNF181"
                     /gene_synonym="HHZ181"
                     /note="major polyA site"
     regulatory      5773..5778
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF181"
                     /gene_synonym="HHZ181"
                     /note="hexamer: AATAAA"
     polyA_site      5792
                     /gene="ZNF181"
                     /gene_synonym="HHZ181"
ORIGIN
        1 gctgtagcct caggcctgac ggcgactccc aggctccggg acgattctgg gcagtgtcgt
       61 ccccagaggt cggcggccgt tgcccgctca ccagcgacgc ggggcgcctg cggggacggt
      121 gaggccctgc tgaggactcc ggccagtatg agtcccgggg gcggcggcgg ggctcaggcc
      181 ctgggtctgc cccgcggtgt gaccccggcc ggtgccttgg ttttcctggc cttcatgtcc
      241 tcctatgtaa acgcggggtg atgacggcgc cgacctcttg gcgctgttgt gagagtgaag
      301 tgggcgcgtg gttagacgcc agccacagtt gtctttgggt tatgtcgtca tgaagccggc
      361 gctctacagt tgtgtaacct tgaacaaatg ggttcagtat cttggaattt cagttttgtc
      421 atcgtttaaa aaatagatct ggaaaaatgt gaacgcacac cgtgcatagt ggtgaagact
      481 gaacgagctg ataaagtttt taccattgtt ttatgaggat tttatttaca gagtaattga
      541 ttttcctcgc aggtggcacc tggtaaatgg ttagcccttg cggagaaaca ccctgttagt
      601 tcccagggag agattggcgc cctggagagt gattaccagt gtgcctttcc attatggtgt
      661 gtcacaggtg ccgcaagata agcctgattt ttcatgactg ctttttcctg cccttctgtg
      721 ccctcaggac actgcccatc tctaagataa gagcctggaa agaggactct gttggctgtt
      781 ggaaattgca gagtaatgcc tcaggtgaca tttaatgatg tggctataga cttcactcat
      841 gaagagtggg gatggctcag ttctgctcag agggacttat acaaggatgt gatggtccag
      901 aattatgaga acctggtctc tgtagcaggt ctttctgtaa ctaagccata tgtgatcacg
      961 ttattggagg atggaaaaga gccctggatg atggagaaaa aactgtcaaa aggtatgatt
     1021 ccagattggg aatcaagatg ggaaaacaag gaattatcaa caaagaagga taattatgat
     1081 gaagattcac cccaaacagt aataatagaa aaagttgtaa aacaaagtta tgaattttca
     1141 aattctaaga agaatttgga atatatagag aagttggaag ggaagcatgg aagtcaggta
     1201 gaccatttca gaccagcaat tctcacctct agagaaagcc ccactgcaga cagtgtttac
     1261 aaatacaata tatttagaag cacctttcat tcaaagtcta ctctttctga accacaaaaa
     1321 atttctgctg aagggaattc acacaaatat gatatattaa agaagaactt accaaaaaag
     1381 tcagttataa aaaatgagaa agtcaatggt ggaaagaaac ttttgaattc taataaaagt
     1441 ggggcagcct tcagccaggg caaatctctt acccttcccc agacttgtaa tagagagaaa
     1501 atctatacat gcagtgaatg tgggaaagcc tttggcaaac agtcaatcct caatcgccac
     1561 tggagaattc atacaggaga gaagccctat gaatgtcgtg aatgtgggaa gacttttagc
     1621 catggctcat cccttacacg acatctgata agccatagtg gagagaaacc ttacaaatgt
     1681 attgaatgtg ggaaggcctt tagccatgtc tcatcactta ctaaccatca gagcactcac
     1741 actggagaga aaccatatga atgtatgaac tgtggaaagt cttttagtcg tgtgtcccat
     1801 cttattgaac atctaagaat tcatactcaa gaaaaactct atgagtgtcg tatatgtgga
     1861 aaggccttca ttcataggtc atctctcatt caccatcaga aaatccatac tggagagaag
     1921 ccttatgaat gtagagaatg tgggaaagct ttctgctgta gctcacacct tactcgacat
     1981 caaagaattc acactatgga gaaacaatat gaatgcaaca aatgtctgaa agtctttagt
     2041 agcctctcat ttcttgttca gcatcagagt attcatactg aagaaaaacc ctttgaatgt
     2101 cagaaatgca ggaaatcctt caaccagctt gaatcactga atatgcattt gagaaatcac
     2161 attagattga aaccctacga atgcagtata tgtgggaaag cctttagtca taggtcatcc
     2221 ctgcttcaac atcacagaat tcatactgga gagaaacctt atgaatgtat taaatgtggg
     2281 aagaccttca gctgtagttc aaaccttacc gtacatcaga gaattcacac tggagaaaag
     2341 ccatataaat gtaatgagtg tgggaaagct tttagcaaag gctcaaatct tactgcccat
     2401 caaagagtac ataatggaga gaaacccaat agtgtggtaa gtgtggaaaa gcctttagac
     2461 tatatgaatc actatacatg tgagaaatct tacagaagag aaactgtatg aagcagtggt
     2521 tatcatggta aatttcctag attctccctt atttaacatt agaaaaattt atactgggga
     2581 aagtcttatg aatgtggtga atataggaag accttttagc aaagatgcag gccagtttgt
     2641 ttattagact ttatactgta gagaaatcat atgaagacca taaatgtggg aaagcctttg
     2701 tcagtattaa tcccttaatt gacataagta tactcacact aggataaaac cctgtacatg
     2761 tagcaaatgt gggaaagact acagacaata ggaatctttt acaaactcct acaggagaga
     2821 agctgtatga atgtagaaaa tttagaaatt gagggaagtc ttcagttcca agtatatccc
     2881 ttattctaca gcagagaact caaaatggag agaaatctca tttaagagat gtagcaaagt
     2941 gttcactaag agtgtttatc ttggtacaca tcagaagatt aatggtagaa caacctgaag
     3001 gatttaggag ttatgtgtaa atctttgcag tcatgctatt tgtaaactgg attctacagg
     3061 agagcaaata aacattataa taaaatatgc atttcttaga gcagtagctt gcagtttcag
     3121 ttgagttcta cttagaaatt ctttttagct agtgggcatg tgaagatatt tagtcaccca
     3181 gaggagccag taagtgttat aatattgaaa attaaagctg caaaagaaat aaagtgatgt
     3241 taataaaagt tttggcatct aataaaatca ttttgtatat cacaaactct ttcactgtga
     3301 ctatttcctg taaaaaaaat ttcactaaga ttagccttag cgtagccttt agtgggagac
     3361 tagcaaacct agagaaaaat gacctgctct ttatactaag aatagcagta ttttgatgag
     3421 gattattcag agtcaatttc cagtaggctt aatcaaatac atttcaaaaa aatttactga
     3481 gcatcactcg tgtattatta cacagcgatg ggatatagga atccagtagt tctgagcttt
     3541 agtggtgtgt caaagtcagt aggagggctt gttaaagcac agattgctaa gtctgaatct
     3601 tagggtttct gtatgagttg atttgaattt gcatttttca tgcgttctta ggcgacacac
     3661 tgtccagaaa gcacattttg ataaccattg taataatgaa caaaacaaat ctgatctttt
     3721 tctcgcaggg atgttatctg acaagaaaga tggatagcaa ataaatttga aataatggtt
     3781 tacaagtgct atgaggacat aaccaagaaa caacatacta caagagatca gagcaggctt
     3841 agcgagatgt gatttttgaa atgaatccta aatgatgaac actaattatg taatgagtac
     3901 tactcatgta gccatgtgca tccctgcatg tgcctgtgcg tgtgtgtatg cggtgtgctg
     3961 ggtgttaatc taggtaaagc agacagtcga gttctgtcat acttgctgca gctggattcc
     4021 acgttcccat gtctagtttc agattctgtg gctttgaggt agtgctgctg gcagcatcat
     4081 tgcagcaacc gtcatttctc tatccctgag tcatagttac gggagtttac cttgaaatca
     4141 ctagcccaga agtgttctca ttacttttac agcccaccta ccaattttga aagcactaat
     4201 ttgcagcaat atatgtcttg aaatagttaa gagagatttt gttctctgca ctgaaccttg
     4261 acagataatt atgttttgta aggaggcagg atggcttcaa atattctaag ttctagataa
     4321 gaaatggaac agtctcactg gccctgtgat tagaatccta tcttgtgatt agaaaggtaa
     4381 tgcagatcaa tttgatttgg agtgtatgga cactgatgca agtgaagggg tgtgatatgg
     4441 attatgcttc agattttgtt ctttatctca ggtgagagta gtaagatatg ttattttaaa
     4501 aaggaacatt atgttatagt tatgataatt ctggtgtgga atgagtgata aggtttctga
     4561 ctttcaacaa aatgtatctc ctctgatata tgtgctacct taacagaaag ccaaagcaca
     4621 gaggcatatt ccaatagcaa tttgcaagag acagtaggtt tggaatgggg tggtaaactt
     4681 ttactatttt gcagggattt tatctttcat ttgatttatt tttaatcatg aaatttatat
     4741 tgaaattctg tgaaacattg aaggatcttt ggaagattta taattaggga agggccagat
     4801 gtagtggcta atgtctgtac tcccagcact ttgggagacc gaggcaggag gattgcttga
     4861 ggccaggagt ttgagaccag cctgggcaat atagcaaaac tcattagtct gttaaaaaaa
     4921 aaaattaccc aggtgtaggc acacatctgc agtcctagct attcaggagg ctgagtgggg
     4981 agggattgct tgagtacagg agttttaagg tcacagtgag ctatcatcac accactgctt
     5041 tccagcctgg acagcagaac accaccctgt ctccaaagta aataaataca attaaggaag
     5101 catgatgtgg tatcagacag ttgcaagtat ggatagactg gctaccacat atatacttat
     5161 gggataatga gagtagcttt cttttctctc attctgtgtc ctttctctgc tctcccaagc
     5221 aactggtacc acagagatga agtagtccta taatgcccag attttgtttc cactacacat
     5281 agtttaatgc taccatgtca ctttgttatg agaggattca tcgaaatacc tgtgctttgt
     5341 catttaaaaa gcatgggcat acacatgata atgctttacg tttctggatt taaagtgcct
     5401 tcacaataca gaactaggaa aaagaaggcc atctttttaa atgaagatag ttttaagaga
     5461 gcaataagag actattactt tgttatgata gaaggttggg ctgatgtcat aatgatgtta
     5521 tgatgtcact gacatcatat tatttcctca gtcataccta ttaaccattt cttgagcatc
     5581 cactatgggc ttaatagata agaaacactc catacccttt aagagccctg aggtgtgtgt
     5641 gtgtgaacag cattaaactt tggagtcatg ttacctgggt ttaaatccaa gttgcatgaa
     5701 tactggcttt gtgtgacctt ggacaaacta tttcactgtg tcttgcctca gtttctccat
     5761 ctgtaaaatg ataataaagc tatctcacag ca
//
LOCUS       NM_001029998            3756 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens solute carrier family 10 member 7 (SLC10A7), transcript
            variant 2, mRNA.
ACCESSION   NM_001029998
VERSION     NM_001029998.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3756)
  AUTHORS   Durin Z, Dubail J, Layotte A, Legrand D, Cormier-Daire V and
            Foulquier F.
  TITLE     SLC10A7, an orphan member of the SLC10 family involved in congenital
            disorders of glycosylation
  JOURNAL   Hum Genet 141 (7), 1287-1298 (2022)
   PUBMED   34999954
  REMARK    GeneRIF: SLC10A7, an orphan member of the SLC10 family involved in
            congenital disorders of glycosylation.
REFERENCE   2  (bases 1 to 3756)
  AUTHORS   Li C, Liu Y, Lv Z, Zheng H, Li Z, Zhang J, Bao H, Zhang S, Xiong J,
            Jin H, Yu L, Ai S, Wang Y, Xiao X, Su T and Liang P.
  TITLE     Circular RNA circHECTD1 facilitates glioma progression by regulating
            the miR-296-3p/SLC10A7 axis
  JOURNAL   J Cell Physiol 236 (8), 5953-5965 (2021)
   PUBMED   33561315
  REMARK    GeneRIF: Circular RNA circHECTD1 facilitates glioma progression by
            regulating the miR-296-3p/SLC10A7 axis.
REFERENCE   3  (bases 1 to 3756)
  AUTHORS   Karakus E, Wannowius M, Muller SF, Leiting S, Leidolf R, Noppes S,
            Oswald S, Diener M and Geyer J.
  TITLE     The orphan solute carrier SLC10A7 is a novel negative regulator of
            intracellular calcium signaling
  JOURNAL   Sci Rep 10 (1), 7248 (2020)
   PUBMED   32350310
  REMARK    GeneRIF: The orphan solute carrier SLC10A7 is a novel negative
            regulator of intracellular calcium signaling. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3756)
  AUTHORS   Ashikov A, Abu Bakar N, Wen XY, Niemeijer M, Rodrigues Pinto Osorio
            G, Brand-Arzamendi K, Hasadsri L, Hansikova H, Raymond K, Vicogne D,
            Ondruskova N, Simon MEH, Pfundt R, Timal S, Beumers R, Biot C,
            Smeets R, Kersten M, Huijben K, Linders PTA, van den Bogaart G, van
            Hijum SAFT, Rodenburg R, van den Heuvel LP, van Spronsen F, Honzik
            T, Foulquier F, van Scherpenzeel M, Lefeber DJ, Mirjam W, Han B,
            Helen M, Helen M, Peter VH, Jiddeke VK, Diego M, Lars M, Katja BH,
            Jozef H, Majid A, Kevin C and Johann TWN.
  CONSRTM   CDG group; CDG group
  TITLE     Integrating glycomics and genomics uncovers SLC10A7 as essential
            factor for bone mineralization by regulating post-Golgi protein
            transport and glycosylation
  JOURNAL   Hum Mol Genet 27 (17), 3029-3045 (2018)
   PUBMED   29878199
  REMARK    GeneRIF: Mutation in SLC10A7 gene is associated with anxiety
            defective bone mineralization.
REFERENCE   5  (bases 1 to 3756)
  AUTHORS   Dubail J, Huber C, Chantepie S, Sonntag S, Tuysuz B, Mihci E, Gordon
            CT, Steichen-Gersdorf E, Amiel J, Nur B, Stolte-Dijkstra I, van
            Eerde AM, van Gassen KL, Breugem CC, Stegmann A, Lekszas C,
            Maroofian R, Karimiani EG, Bruneel A, Seta N, Munnich A, Papy-Garcia
            D, De La Dure-Molla M and Cormier-Daire V.
  TITLE     SLC10A7 mutations cause a skeletal dysplasia with amelogenesis
            imperfecta mediated by GAG biosynthesis defects
  JOURNAL   Nat Commun 9 (1), 3087 (2018)
   PUBMED   30082715
  REMARK    GeneRIF: SLC10A7 is involved in glycosaminoglycan synthesis and
            specifically in skeletal development. SLC10A7 mutations cause a
            skeletal dysplasia with amelogenesis imperfecta. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 3756)
  AUTHORS   Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G,
            Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK,
            Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek WH,
            Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT, McManus
            R, van Heel DA and Wijmenga C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3756)
  AUTHORS   Godoy JR, Fernandes C, Doring B, Beuerlein K, Petzinger E and Geyer
            J.
  TITLE     Molecular and phylogenetic characterization of a novel putative
            membrane transporter (SLC10A7), conserved in vertebrates and
            bacteria
  JOURNAL   Eur J Cell Biol 86 (8), 445-460 (2007)
   PUBMED   17628207
  REMARK    GeneRIF: Molecular characterization and expression analysis of a
            novel member of the SLC10 family, SLC10A7, previously known as
            C4orf13, is reported
REFERENCE   8  (bases 1 to 3756)
  AUTHORS   Zou X, Wang D, Qiu G, Ji C, Jin F, Wu M, Zheng H, Li X, Sun L, Wang
            Y, Tang R, Zhao RC and Mao Y.
  TITLE     Molecular cloning and characterization of a novel human C4orf13
            gene, tentatively a member of the sodium bile acid cotransporter
            family
  JOURNAL   Biochem Genet 43 (3-4), 165-173 (2005)
   PUBMED   15932064
  REMARK    GeneRIF: cloning and characterization; mapped to chromosome 4q31.2
            and contains 12 exons; widely expressed in human tissues
REFERENCE   9  (bases 1 to 3756)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10  (bases 1 to 3756)
  AUTHORS   Teng CS.
  TITLE     Biological activity in the repopulating rat spermatocyte after the
            withdrawal of gossypol treatment. V. Inhibition and recovery of
            microtubular dynein
  JOURNAL   Contraception 51 (5), 313-318 (1995)
   PUBMED   7628207
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC150308.1, SRR14038194.1419126.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000335472.12/ ENSP00000334594.8
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC150308.1 and AC093863.3.
            On Jun 2, 2019 this sequence version replaced NM_001029998.5.
            Transcript Variant: This variant (2) encodes isoform b.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3756
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.22"
     gene            1..3756
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="solute carrier family 10 member 7"
                     /db_xref="GeneID:84068"
                     /db_xref="HGNC:HGNC:23088"
                     /db_xref="MIM:611459"
     misc_feature    161..163
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="upstream in-frame stop codon"
     CDS             224..1246
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="isoform b is encoded by transcript variant 2;
                     sodium/bile acid cotransporter 7; SBF-domain containing
                     protein; Na(+)/bile acid cotransporter 7; solute carrier
                     family 10 (sodium/bile acid cotransporter family), member
                     7"
                     /codon_start=1
                     /product="sodium/bile acid cotransporter 7 isoform b"
                     /protein_id="NP_001025169.1"
                     /db_xref="CCDS:CCDS34073.1"
                     /db_xref="GeneID:84068"
                     /db_xref="HGNC:HGNC:23088"
                     /db_xref="MIM:611459"
                     /translation="MRLLERMRKDWFMVGIVLAIAGAKLEPSIGVNGGPLKPEITVSYI
                     AVATIFFNSGLSLKTEELTSALVHLKLHLFIQIFTLAFFPATIWLFLQLLSITPINEWL
                     LKGLQTVGCMPPPVSSAVILTKAVGGNEAAAIFNSAFGSFLGIVITPLLLLLFLGSSSS
                     VPFTSIFSQLFMTVVVPLIIGQIVRRYIKDWLERKKPPFGAISSSVLLMIIYTTFCDTF
                     SNPNIDLDKFSLVLILFIIFSIQLSFMLLTFIFSTRNNSGFTPADTVAIIFCSTHKSLT
                     LGIPMLKIVFAGHEHLSLISVPLLIYHPAQILLGSVLVPTIKSWMVSRQKGVKLTRPTV
                     "
     misc_feature    254..316
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0GE19.2);
                     transmembrane region"
     misc_feature    335..397
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0GE19.2);
                     transmembrane region"
     misc_feature    437..499
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0GE19.2);
                     transmembrane region"
     misc_feature    572..634
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0GE19.2);
                     transmembrane region"
     misc_feature    638..700
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0GE19.2);
                     transmembrane region"
     misc_feature    713..775
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0GE19.2);
                     transmembrane region"
     misc_feature    827..889
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0GE19.2);
                     transmembrane region"
     misc_feature    926..988
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0GE19.2);
                     transmembrane region"
     misc_feature    1034..1096
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0GE19.2);
                     transmembrane region"
     misc_feature    1118..1180
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0GE19.2);
                     transmembrane region"
     regulatory      2786..2791
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="hexamer: AATAAA"
     polyA_site      2805
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="major polyA site"
     regulatory      3298..3303
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="hexamer: AACAAA"
     regulatory      3305..3310
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="hexamer: AATAAA"
     polyA_site      3317
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="major polyA site"
     polyA_site      3328
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="major polyA site"
     regulatory      3727..3732
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="hexamer: ATTAAA"
     regulatory      3731..3736
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="hexamer: AACAAA"
     polyA_site      3746
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
     polyA_site      3756
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="major polyA site"
ORIGIN
        1 gctcagtgag actttcctgt cactggctac tactactccc aaccctcctc aaagccgccg
       61 gagcaacccc caggtcttta ctttacaatc ggcaatttga cttgctctgc tgcatgtctg
      121 gagggaccaa ggaaagtgtg gagacgctcc aaggattagg tgatcggagc ttgaaaagaa
      181 aaaaagccaa acaaataaac aaaacccacc caccctaaca aatatgaggc tgctggagag
      241 aatgaggaaa gactggttca tggtcggaat agtgctggcg atcgctggag ctaaactgga
      301 gccgtccata ggggtgaatg ggggaccact gaagccagaa ataactgtat cctacattgc
      361 tgttgcaaca atattcttta acagtggact atcattgaaa acagaggagc tgaccagtgc
      421 tttggtgcat ctaaaactgc atctttttat tcagatcttt actcttgcat tcttcccagc
      481 aacaatatgg ctttttcttc agcttttatc aatcacaccc atcaacgaat ggcttttaaa
      541 aggtttgcag acagtaggtt gcatgcctcc gcctgtgtct tctgcagtga ttttaaccaa
      601 ggcagttggt ggaaatgagg cagctgcaat atttaattca gcctttggaa gttttttggg
      661 catcgttata acacccctgc tcctgctgct ttttcttggt tcatcttctt ctgtgccttt
      721 cacatctatt ttttctcagc tttttatgac tgttgtggtt cctctcatca ttggacagat
      781 tgtccgaaga tacatcaagg attggcttga gagaaagaag cctccttttg gtgctatcag
      841 cagcagtgta ctcctcatga tcatctacac aacattctgt gacacgttct ctaacccaaa
      901 tattgacctg gataaattca gccttgttct catactgttc ataatatttt ctatccagct
      961 gagttttatg cttttaactt tcatcttttc aacaaggaat aattcgggtt tcacaccagc
     1021 agacacagtg gctatcattt tctgttctac acacaaatcc cttacattgg gaattccgat
     1081 gctgaagatc gtgtttgcag gccatgagca tctctcttta atatctgtac ccttgctcat
     1141 ctaccaccca gctcagatcc ttctgggaag tgtgttggtg ccaacaatca agtcttggat
     1201 ggtatcaagg cagaagggag tgaagctgac aaggccgaca gtataacaaa ggaggtggac
     1261 tttctgtagc aatgtatata tgtacaggat tgtacatact agcaattctg aagacttgta
     1321 cttgtgaatg ttgcctcaat gcatatttta tttttttaca caaaaatatg agatcctgtt
     1381 taagtgcctt aaaatgtatt tgacaagagc gttatttcca aaatatgctt tgttgattac
     1441 tgccaggggt ggtacaatat ttgggggtta attttgcttt cctaatgcag gaatcagtca
     1501 tggtaagtga caaaaagcaa acatgctttc cctgcagcac ctttgtgcaa tacaacccta
     1561 tagtagttac tgtaatgttt gaaatgaggt cacaccatca ggaaaatgcc cttctgatga
     1621 cagtgaaaat ttccaaagtc ttattcatgc atactttgat ttactgtgtg attctttttt
     1681 tctacgactg tgacatgcct cttccttatc aactcagcag gggtcataga tcgaatagat
     1741 gctgaaaagc gtaagatata tgcattcctt gacatcattt ttaaagacat tccttcaaat
     1801 agtttccaca cagaaattcc tcactcccat tatgagagat tgtggttata tgtcttaaat
     1861 ttattataag ctgcttcaaa gaaagggtct gaatgtttga attatgagtg aaatcatgtg
     1921 aaattttgag ttaaactctg tgatttgatt ttcagggtct ttaaaatata tcttaatatc
     1981 ttcttcctct ttattcaata atttctgtct tgcacttaca cactcataac agccaaatat
     2041 gaggcacaaa aatgttacaa tcagtttgaa agcagcatca attaatggta gattctattc
     2101 acattccaca acccagacca aatttttttc ctattacgca gatgtgctga gcactttcca
     2161 gattgcccct gttggccaaa agcagcctgt tacatcctgg aattaagcac acttaaggta
     2221 tttgagacaa tttattaatg aaaatttcct tggcagattt gacaaatgtt ggcaatattt
     2281 ttttagaagt taaatcatat tgctttcatg aataaatgaa aatataaagg tcatggatgc
     2341 aaacaaatgt tacatataca cattctgtct ctccagatga aaagaacatg caaaaccatt
     2401 taataaccaa aatatcaagt aaaattagtt cccaacgggg cagcagcttt caaatgagtg
     2461 tccaatattt gcttctgcta tagctgcaag aactgtaact ggacccaagt agagaatgaa
     2521 gccacgtata gaactacgag aacacttttc tgtgtttccc ccatgccgtc ctgtcacatc
     2581 ctcttacacg tcctctcttg atttgataga caatattggc atcctgggtc tcactgaggc
     2641 cgtgctatgt cctcagcagc tgtttttgtt gtttcgttat tatgcccaca acaaaaaatc
     2701 attccttaga aactcaccaa gtttatctac tgtgtaaatt tatattattg ttactaccag
     2761 gtctcatctt ttgtcaatgt cattgaataa atttcataag agttattctc agtgtgaatt
     2821 ttaaggctaa tgccagatcc tgcaaaaatc tatgctaacc aggctgtagt acacactgtt
     2881 ataaagaatt ttacttgtgt ctaaaactac agtaattttg cttaggtaat tgtgcttacc
     2941 tatggagcac aggaaggctc ttaggttttg ttcctacaag tttctttgaa ttttggagta
     3001 aatggaagtg tctgtctgtc tgtcatctat ctgccctatc ataaaaatct ttctccctaa
     3061 cattaaaata ctgatccccg cccccaactt atctacctct attgtctaac acctatagta
     3121 ggtgtgatca tgggataaaa ttcaactgaa aatgctatga taacatttta tcgtttgctt
     3181 taaaaatgtg ctttgttttc aaataatctt tacatagtga actttggtgg cgttagtgat
     3241 atgtttatgc ctatttcttt tttttacaca aattccttgg catatttttt cataaagaac
     3301 aaaaaataaa atcaaaattt atttttaatt catgcttatt gggatttaat tattcagagc
     3361 ttaaaatatt ttgttatgtt tatacactgt aaagctatct gttttatgca tttgttttgt
     3421 ctaaatgtat ttatgaaaga aatacattag attatattta tgtttactca tttttccacc
     3481 tggatttttt ttaatggttg ttacaaaatt agatttttta atgggtaata atgttggtat
     3541 tttcatgttt tttcttagta ttaaaatttt tgtgggtttt ttaaaatttt tccctattct
     3601 gttaaaaatt aacacacctc tagctaatgt tcagtgtttg tgctaaatac caaatttttt
     3661 caaaaggatt ggttaagtca taaagtggat tatttatgat gactggaaga tgaaaataat
     3721 tatatgatta aacaaagaat gtttcagaaa tcacaa
//
LOCUS       NM_001030                352 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S27 (RPS27), transcript variant 1,
            mRNA.
ACCESSION   NM_001030
VERSION     NM_001030.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 352)
  AUTHORS   Wan J, Lv J, Wang C and Zhang L.
  TITLE     RPS27 selectively regulates the expression and alternative splicing
            of inflammatory and immune response genes in thyroid cancer cells
  JOURNAL   Adv Clin Exp Med 31 (8), 889-901 (2022)
   PUBMED   35546566
  REMARK    GeneRIF: RPS27 selectively regulates the expression and alternative
            splicing of inflammatory and immune response genes in thyroid cancer
            cells.
REFERENCE   2  (bases 1 to 352)
  AUTHORS   Woodford MR, Backe SJ, Wengert LA, Dunn DM, Bourboulia D and
            Mollapour M.
  TITLE     Hsp90 chaperone code and the tumor suppressor VHL cooperatively
            regulate the mitotic checkpoint
  JOURNAL   Cell Stress Chaperones 26 (6), 965-971 (2021)
   PUBMED   34586601
  REMARK    GeneRIF: Hsp90 chaperone code and the tumor suppressor VHL
            cooperatively regulate the mitotic checkpoint.
REFERENCE   3  (bases 1 to 352)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   4  (bases 1 to 352)
  AUTHORS   Xiong X, Cui D, Bi Y, Sun Y and Zhao Y.
  TITLE     Neddylation modification of ribosomal protein RPS27L or RPS27 by
            MDM2 or NEDP1 regulates cancer cell survival
  JOURNAL   FASEB J 34 (10), 13419-13429 (2020)
   PUBMED   32779270
  REMARK    GeneRIF: Neddylation modification of ribosomal protein RPS27L or
            RPS27 by MDM2 or NEDP1 regulates cancer cell survival.
REFERENCE   5  (bases 1 to 352)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 352)
  AUTHORS   Fernandez-Pol JA.
  TITLE     Metallopanstimulin as a novel tumor marker in sera of patients with
            various types of common cancers: implications for prevention and
            therapy
  JOURNAL   Anticancer Res 16 (4B), 2177-2185 (1996)
   PUBMED   8694540
REFERENCE   7  (bases 1 to 352)
  AUTHORS   Fernandez-Pol JA, Klos DJ and Hamilton PD.
  TITLE     Metallopanstimulin gene product produced in a baculovirus expression
            system is a nuclear phosphoprotein that binds to DNA
  JOURNAL   Cell Growth Differ 5 (8), 811-825 (1994)
   PUBMED   7986747
REFERENCE   8  (bases 1 to 352)
  AUTHORS   Xynos FP, Klos DJ, Hamilton PD, Schuette V, Huygens P and
            Fernandez-Pol JA.
  TITLE     Expression of metallopanstimulin in condylomata acuminata of the
            female anogenital region induced by papilloma virus
  JOURNAL   Anticancer Res 14 (3A), 773-786 (1994)
   PUBMED   8074479
REFERENCE   9  (bases 1 to 352)
  AUTHORS   Fernandez-Pol JA, Klos DJ and Hamilton PD.
  TITLE     A growth factor-inducible gene encodes a novel nuclear protein with
            zinc finger structure
  JOURNAL   J Biol Chem 268 (28), 21198-21204 (1993)
   PUBMED   8407955
REFERENCE   10  (bases 1 to 352)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301769
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BU963235.1, CD520794.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000651669.1/ ENSP00000499044.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Karyn Megy, Francesco Amaldi. The reference
            sequence was derived from BC070219.1, D28454.1 and AJ572583.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 21, 2018 this sequence version replaced NM_001030.5.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of four RNA species and approximately
            80 structurally distinct proteins. This gene encodes a member of
            the S27e family of ribosomal proteins and component of the 40S
            subunit. The encoded protein contains a C4-type zinc finger domain
            that can bind to zinc and may bind to nucleic acid. Mutations in
            this gene have been identified in numerous melanoma patients and in
            at least one patient with Diamond-Blackfan anemia (DBA). Elevated
            expression of this gene has been observed in various human cancers.
            As is typical for genes encoding ribosomal proteins, there are
            multiple processed pseudogenes of this gene dispersed through the
            genome. [provided by RefSeq, Jul 2018].
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..352
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..352
                     /gene="RPS27"
                     /gene_synonym="DBA17; eS27; MPS-1; MPS1; S27"
                     /note="ribosomal protein S27"
                     /db_xref="GeneID:6232"
                     /db_xref="HGNC:HGNC:10416"
                     /db_xref="MIM:603702"
     CDS             36..290
                     /gene="RPS27"
                     /gene_synonym="DBA17; eS27; MPS-1; MPS1; S27"
                     /note="isoform 1 is encoded by transcript variant 1;
                     metallopan-stimulin 1; metallopanstimulin 1; small
                     ribosomal subunit protein eS27"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS27 isoform 1"
                     /protein_id="NP_001021.1"
                     /db_xref="CCDS:CCDS1059.1"
                     /db_xref="GeneID:6232"
                     /db_xref="HGNC:HGNC:10416"
                     /db_xref="MIM:603702"
                     /translation="MPLAKDLLHPSPEEEKRKHKKKRLVQSPNSYFMDVKCPGCYKITT
                     VFSHAQTVVLCVGCSTVLCQPTGGKARLTEGCSFRRKQH"
     misc_feature    36..104
                     /gene="RPS27"
                     /gene_synonym="DBA17; eS27; MPS-1; MPS1; S27"
                     /note="propagated from UniProtKB/Swiss-Prot (P42677.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    66..68
                     /gene="RPS27"
                     /gene_synonym="DBA17; eS27; MPS-1; MPS1; S27"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P42677.3);
                     phosphorylation site"
     regulatory      327..332
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS27"
                     /gene_synonym="DBA17; eS27; MPS-1; MPS1; S27"
                     /note="hexamer: AATAAA"
     polyA_site      352
                     /gene="RPS27"
                     /gene_synonym="DBA17; eS27; MPS-1; MPS1; S27"
                     /note="major polyA site"
ORIGIN
        1 cctttccggc ggtgacgacc tacgcacacg agaacatgcc tctcgcaaag gatctccttc
       61 atccctctcc agaagaggag aagaggaaac acaagaagaa acgcctggtg cagagcccca
      121 attcctactt catggatgtg aaatgcccag gatgctataa aatcaccacg gtctttagcc
      181 atgcacaaac ggtagttttg tgtgttggct gctccactgt cctctgccag cctacaggag
      241 gaaaagcaag gcttacagaa ggatgttcct tcaggaggaa gcagcactaa aagcactctg
      301 agtcaagatg agtgggaaac catctcaata aacacatttt ggataaatcc tg
//
LOCUS       NM_001030005            2002 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens complexin 3 (CPLX3), mRNA.
ACCESSION   NM_001030005
VERSION     NM_001030005.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2002)
  AUTHORS   Amin N, Byrne E, Johnson J, Chenevix-Trench G, Walter S, Nolte IM,
            Vink JM, Rawal R, Mangino M, Teumer A, Keers JC, Verwoert G,
            Baumeister S, Biffar R, Petersmann A, Dahmen N, Doering A, Isaacs A,
            Broer L, Wray NR, Montgomery GW, Levy D, Psaty BM, Gudnason V,
            Chakravarti A, Sulem P, Gudbjartsson DF, Kiemeney LA,
            Thorsteinsdottir U, Stefansson K, van Rooij FJ, Aulchenko YS,
            Hottenga JJ, Rivadeneira FR, Hofman A, Uitterlinden AG, Hammond CJ,
            Shin SY, Ikram A, Witteman JC, Janssens AC, Snieder H, Tiemeier H,
            Wolfenbuttel BH, Oostra BA, Heath AC, Wichmann E, Spector TD, Grabe
            HJ, Boomsma DI, Martin NG and van Duijn CM.
  CONSRTM   kConFab Investigators
  TITLE     Genome-wide association analysis of coffee drinking suggests
            association with CYP1A1/CYP1A2 and NRCAM
  JOURNAL   Mol Psychiatry 17 (11), 1116-1129 (2012)
   PUBMED   21876539
REFERENCE   2  (bases 1 to 2002)
  AUTHORS   Li F, Pincet F, Perez E, Giraudo CG, Tareste D and Rothman JE.
  TITLE     Complexin activates and clamps SNAREpins by a common mechanism
            involving an intermediate energetic state
  JOURNAL   Nat Struct Mol Biol 18 (8), 941-946 (2011)
   PUBMED   21785413
  REMARK    GeneRIF: CPX acts sequentially on assembling SNAREpins, first
            facilitating zippering by nearly doubling the distance at which v-
            and t-SNAREs can engage and then clamping them into a half-zippered
            fusion-incompetent state. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2002)
  AUTHORS   Cornelis MC, Monda KL, Yu K, Paynter N, Azzato EM, Bennett SN,
            Berndt SI, Boerwinkle E, Chanock S, Chatterjee N, Couper D, Curhan
            G, Heiss G, Hu FB, Hunter DJ, Jacobs K, Jensen MK, Kraft P, Landi
            MT, Nettleton JA, Purdue MP, Rajaraman P, Rimm EB, Rose LM, Rothman
            N, Silverman D, Stolzenberg-Solomon R, Subar A, Yeager M, Chasman
            DI, van Dam RM and Caporaso NE.
  TITLE     Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24
            (CYP1A2) as determinants of habitual caffeine consumption
  JOURNAL   PLoS Genet 7 (4), e1002033 (2011)
   PUBMED   21490707
REFERENCE   4  (bases 1 to 2002)
  AUTHORS   Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, Coin L,
            Najjar SS, Zhao JH, Heath SC, Eyheramendy S, Papadakis K, Voight BF,
            Scott LJ, Zhang F, Farrall M, Tanaka T, Wallace C, Chambers JC, Khaw
            KT, Nilsson P, van der Harst P, Polidoro S, Grobbee DE, Onland-Moret
            NC, Bots ML, Wain LV, Elliott KS, Teumer A, Luan J, Lucas G,
            Kuusisto J, Burton PR, Hadley D, McArdle WL, Brown M, Dominiczak A,
            Newhouse SJ, Samani NJ, Webster J, Zeggini E, Beckmann JS, Bergmann
            S, Lim N, Song K, Vollenweider P, Waeber G, Waterworth DM, Yuan X,
            Groop L, Orho-Melander M, Allione A, Di Gregorio A, Guarrera S,
            Panico S, Ricceri F, Romanazzi V, Sacerdote C, Vineis P, Barroso I,
            Sandhu MS, Luben RN, Crawford GJ, Jousilahti P, Perola M, Boehnke M,
            Bonnycastle LL, Collins FS, Jackson AU, Mohlke KL, Stringham HM,
            Valle TT, Willer CJ, Bergman RN, Morken MA, Doring A, Gieger C,
            Illig T, Meitinger T, Org E, Pfeufer A, Wichmann HE, Kathiresan S,
            Marrugat J, O'Donnell CJ, Schwartz SM, Siscovick DS, Subirana I,
            Freimer NB, Hartikainen AL, McCarthy MI, O'Reilly PF, Peltonen L,
            Pouta A, de Jong PE, Snieder H, van Gilst WH, Clarke R, Goel A,
            Hamsten A, Peden JF, Seedorf U, Syvanen AC, Tognoni G, Lakatta EG,
            Sanna S, Scheet P, Schlessinger D, Scuteri A, Dorr M, Ernst F, Felix
            SB, Homuth G, Lorbeer R, Reffelmann T, Rettig R, Volker U, Galan P,
            Gut IG, Hercberg S, Lathrop GM, Zelenika D, Deloukas P, Soranzo N,
            Williams FM, Zhai G, Salomaa V, Laakso M, Elosua R, Forouhi NG,
            Volzke H, Uiterwaal CS, van der Schouw YT, Numans ME, Matullo G,
            Navis G, Berglund G, Bingham SA, Kooner JS, Connell JM, Bandinelli
            S, Ferrucci L, Watkins H, Spector TD, Tuomilehto J, Altshuler D,
            Strachan DP, Laan M, Meneton P, Wareham NJ, Uda M, Jarvelin MR,
            Mooser V, Melander O, Loos RJ, Elliott P, Abecasis GR, Caulfield M
            and Munroe PB.
  CONSRTM   Wellcome Trust Case Control Consortium
  TITLE     Genome-wide association study identifies eight loci associated with
            blood pressure
  JOURNAL   Nat Genet 41 (6), 666-676 (2009)
   PUBMED   19430483
REFERENCE   5  (bases 1 to 2002)
  AUTHORS   Reim K, Wegmeyer H, Brandstatter JH, Xue M, Rosenmund C, Dresbach T,
            Hofmann K and Brose N.
  TITLE     Structurally and functionally unique complexins at retinal ribbon
            synapses
  JOURNAL   J Cell Biol 169 (4), 669-680 (2005)
   PUBMED   15911881
REFERENCE   6  (bases 1 to 2002)
  AUTHORS   Ohira M, Morohashi A, Inuzuka H, Shishikura T, Kawamoto T, Kageyama
            H, Nakamura Y, Isogai E, Takayasu H, Sakiyama S, Suzuki Y, Sugano S,
            Goto T, Sato S and Nakagawara A.
  TITLE     Expression profiling and characterization of 4200 genes cloned from
            primary neuroblastomas: identification of 305 genes differentially
            expressed between favorable and unfavorable subsets
  JOURNAL   Oncogene 22 (35), 5525-5536 (2003)
   PUBMED   12934113
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB072900.1, AK024055.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000395018.6/ ENSP00000378464.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK024055.1, BC018026.1, AU253913.2 and AC091230.23.
            On Nov 23, 2018 this sequence version replaced NM_001030005.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2002
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     gene            1..2002
                     /gene="CPLX3"
                     /gene_synonym="CPX-III; CPXIII; Nbla11589"
                     /note="complexin 3"
                     /db_xref="GeneID:594855"
                     /db_xref="HGNC:HGNC:27652"
                     /db_xref="MIM:609585"
     misc_feature    6..8
                     /gene="CPLX3"
                     /gene_synonym="CPX-III; CPXIII; Nbla11589"
                     /note="upstream in-frame stop codon"
     CDS             78..554
                     /gene="CPLX3"
                     /gene_synonym="CPX-III; CPXIII; Nbla11589"
                     /note="complexin III; CPX III; epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="complexin-3"
                     /protein_id="NP_001025176.1"
                     /db_xref="CCDS:CCDS32294.1"
                     /db_xref="GeneID:594855"
                     /db_xref="HGNC:HGNC:27652"
                     /db_xref="MIM:609585"
                     /translation="MAFMVKTMVGGQLKNLTGSLGGGEDKGDGDKSAAEAQGMSREEYE
                     EYQKQLVEEKMERDAQFTQRKAERATLRSHFRDKYRLPKNETDESQIQMAGGDVELPRE
                     LAKMIEEDTEEEEEKASVLGQLASLPGLNLGSLKDKAQATLGDLKQSAEKCHVM"
     misc_feature    114..218
                     /gene="CPLX3"
                     /gene_synonym="CPX-III; CPXIII; Nbla11589"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WVH0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    297..374
                     /gene="CPLX3"
                     /gene_synonym="CPX-III; CPXIII; Nbla11589"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WVH0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    540..542
                     /gene="CPLX3"
                     /gene_synonym="CPX-III; CPXIII; Nbla11589"
                     /note="Cysteine methyl ester.
                     /evidence=ECO:0000250|UniProtKB:Q8R1B5; propagated from
                     UniProtKB/Swiss-Prot (Q8WVH0.1); methylation site"
     regulatory      1414..1419
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPLX3"
                     /gene_synonym="CPX-III; CPXIII; Nbla11589"
                     /note="hexamer: AATAAA"
     polyA_site      1439
                     /gene="CPLX3"
                     /gene_synonym="CPX-III; CPXIII; Nbla11589"
                     /note="major polyA site"
     regulatory      1949..1954
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPLX3"
                     /gene_synonym="CPX-III; CPXIII; Nbla11589"
                     /note="hexamer: TATAAA"
     polyA_site      1971
                     /gene="CPLX3"
                     /gene_synonym="CPX-III; CPXIII; Nbla11589"
     regulatory      1974..1979
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPLX3"
                     /gene_synonym="CPX-III; CPXIII; Nbla11589"
                     /note="hexamer: AATAAA"
     polyA_site      2002
                     /gene="CPLX3"
                     /gene_synonym="CPX-III; CPXIII; Nbla11589"
ORIGIN
        1 agtgctgaag taggcgcgga cgtgcccggt gcctggcgcg tggtagcagg cgcccggtgc
       61 cccggccggc gaagaccatg gcgttcatgg tgaagaccat ggtgggcggc cagctgaaga
      121 acctcactgg gagcctggga ggcggcgagg ataagggaga tggggacaag tcggcagccg
      181 aagctcaggg catgagccgg gaggagtacg aggagtatca gaagcaactc gtggaagaga
      241 agatggagcg ggatgcacag ttcacacaga ggaaggcaga gcgggccaca ctgcggagcc
      301 acttccgaga caaataccgg ctacccaaga acgagacaga tgagagccag atccagatgg
      361 caggtggaga cgtggagctg ccccgggagc tggccaagat gatcgaggag gacacagagg
      421 aggaggagga gaaggcctca gtccttgggc agctggccag ccttcctggc ttgaacctgg
      481 gctcactcaa ggacaaggcc caggccacac tgggggatct caagcaatca gctgagaagt
      541 gtcacgtcat gtgaccactt ccccggggtt acccactggg ctgggccccc atgagggcta
      601 agagtgtgtc aacttccagg gacccatact ccatttgggg ctttgtttcc cttgccccat
      661 cctagttcca agacctttcc catccatgcc ccaagcctat cttctggttt cttcctctcc
      721 gctgggagta aagtccccat cttcactcta cccttcagga ccctccccac cagctcagcc
      781 tgtggaggcc tcccaagatt gtaggaatag gcccatccct ctctggccat ggccccaagt
      841 tcctgcacac aggagcaccc acagagagac acacacagga cacaaaaccc ctggcacgtt
      901 cagagacaga agccacagat acatcccggc acagacagac acacacgagg ccagctccct
      961 tgcgtgtcca gcccctccag acaccaccac tcagaaactc tgagagagag catgggcaga
     1021 caccctcagc agacaggagg cctgagttcc agtctccacc tttattgttc ttgaaagccc
     1081 ctgctctctc tgagccttat ttcatcatct gtaaaatggg aatgtcctga atgacttcta
     1141 aggctctttc tggcttgaac tgtcagagcc aagcccacat ccctccttgg gcagggcagc
     1201 agctgctgcc acagcctcca gcggctgcca ctgtgggctc tgggagccgg agcgatgctg
     1261 tgtgagaggc agagtgccaa ggatgaagct ggcactgaac agtaagcggc tccaggcctc
     1321 ctctgggccc agggcccagc caatttctgt tctgttcctg tagaacgctc tctggattcc
     1381 atagctggaa tctcctctct tagctcagtg aaaaataaaa atcccaaatg gtgtgcctac
     1441 cttcccactt cttactggct tccaggagtc ttggagttca tagccccccg agcctgcctt
     1501 aaaggggtgt cctccacccc ccacctacag cttcacagga ggggagaagg catccagtgc
     1561 taggagtaga agtgtctcca gctctgttct cttggggccc tgggtgaagg tggggtctgg
     1621 ggcttatgaa ataggtctgg gctttgagga ggatggagca gcctcattat gtggggaaga
     1681 tggggcctct ggggcgtcac tgagaccaca ggtggggccg gggctggacc gcagctgtct
     1741 tgggtgcctg tgcctacacc cctcctcacc ctagagacgg aagatgtgca aaaagaaaga
     1801 aggaagggca actgcattcc agccccacac tgtgatgact ttgagcctgt cctttccctc
     1861 cttgagcctg tcttgcttgt cccctgtaaa atgaacagtc cccctctccc ccaaatagta
     1921 ataatacatg tttcaaaggg tgaccattta taaagcatat gacaaaccat atcaataaat
     1981 gtaactcatt cttttaaaaa aa
//
LOCUS       NM_001030006            5700 bp    mRNA    linear   PRI 23-MAR-2023
DEFINITION  Homo sapiens adaptor related protein complex 2 subunit beta 1
            (AP2B1), transcript variant 1, mRNA.
ACCESSION   NM_001030006
VERSION     NM_001030006.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5700)
  AUTHORS   Pena-Vazquez O, Enriquez-Del Castillo LA, Gonzalez-Chavez SA,
            Guereca-Arvizuo J, Candia Lujan R, Carrasco Legleu CE, Cervantes
            Hernandez N and Pacheco-Tena C.
  TITLE     Prevalence of Polymorphism and Post-Training Expression of ACTN3
            (R/X) and ACE (I/D) Genes in CrossFit Athletes
  JOURNAL   Int J Environ Res Public Health 20 (5), 4404 (2023)
   PUBMED   36901413
  REMARK    GeneRIF: Prevalence of Polymorphism and Post-Training Expression of
            ACTN3 (R/X) and ACE (I/D) Genes in CrossFit Athletes. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 5700)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (bases 1 to 5700)
  AUTHORS   Azarnia Tehran D, Lopez-Hernandez T and Maritzen T.
  TITLE     Endocytic Adaptor Proteins in Health and Disease: Lessons from Model
            Organisms and Human Mutations
  JOURNAL   Cells 8 (11), 1345 (2019)
   PUBMED   31671891
  REMARK    Review article Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5700)
  AUTHORS   Li B, Ma L, Zhang C, Zhou Z, Yuan H, Jiang H, Pan Y and Tan Q.
  TITLE     Associations of genetic variants in endocytic trafficking of
            epidermal growth factor receptor super pathway with risk of
            nonsyndromic cleft lip with or without cleft palate
  JOURNAL   Mol Genet Genomic Med 6 (6), 1157-1167 (2018)
   PUBMED   30411541
  REMARK    GeneRIF: AP2B1 might be associated with the development of
            nonsyndromic cleft lip with or without cleft palate.
REFERENCE   5  (bases 1 to 5700)
  AUTHORS   Yang L, Qiu J, Xiao Y, Hu X, Liu Q, Chen L, Huang W, Li X, Li L,
            Zhang J, Ding X and Xiang S.
  TITLE     AP-2beta inhibits hepatocellular carcinoma invasion and metastasis
            through Slug and Snail to suppress epithelial-mesenchymal transition
  JOURNAL   Theranostics 8 (13), 3707-3721 (2018)
   PUBMED   30026878
  REMARK    GeneRIF: Reduced expression of AP-2beta was significantly associated
            with more advanced hepatocellular carcinoma stages and larger tumor
            sizes. The overexpression of AP-2beta reduced HCC proliferation,
            migration, invasion, tumor formation and metastasis in vitro and in
            vivo. Moreover, AP-2beta modulates the levels of
            epithelial-mesenchymal transition markers through Slug and Snail in
            hepatocellular carcinoma cell lines and tiss... Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 5700)
  AUTHORS   Aguilar RC, Ohno H, Roche KW and Bonifacino JS.
  TITLE     Functional domain mapping of the clathrin-associated adaptor medium
            chains mu1 and mu2
  JOURNAL   J Biol Chem 272 (43), 27160-27166 (1997)
   PUBMED   9341158
REFERENCE   7  (bases 1 to 5700)
  AUTHORS   Druck T, Gu Y, Prabhala G, Cannizzaro LA, Park SH, Huebner K and
            Keen JH.
  TITLE     Chromosome localization of human genes for clathrin adaptor
            polypeptides AP2 beta and AP50 and the clathrin-binding protein, VCP
  JOURNAL   Genomics 30 (1), 94-97 (1995)
   PUBMED   8595912
REFERENCE   8  (bases 1 to 5700)
  AUTHORS   Gallusser A and Kirchhausen T.
  TITLE     The beta 1 and beta 2 subunits of the AP complexes are the clathrin
            coat assembly components
  JOURNAL   EMBO J 12 (13), 5237-5244 (1993)
   PUBMED   8262066
REFERENCE   9  (bases 1 to 5700)
  AUTHORS   Garcia JV and Miller AD.
  TITLE     Serine phosphorylation-independent downregulation of cell-surface
            CD4 by nef
  JOURNAL   Nature 350 (6318), 508-511 (1991)
   PUBMED   2014052
REFERENCE   10  (bases 1 to 5700)
  AUTHORS   Ponnambalam S, Robinson MS, Jackson AP, Peiperl L and Parham P.
  TITLE     Conservation and diversity in families of coated vesicle adaptins
  JOURNAL   J Biol Chem 265 (9), 4814-4820 (1990)
   PUBMED   1969413
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.173388.1,
            SRR1660803.98023.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000610402.5/ ENSP00000483185.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX643620.1, BC006201.2,
            BC012150.1, BQ421703.1, M34175.1 and AI691147.1.
            On Nov 22, 2018 this sequence version replaced NM_001030006.1.
            Summary: The protein encoded by this gene is one of two large chain
            components of the assembly protein complex 2, which serves to link
            clathrin to receptors in coated vesicles. The encoded protein is
            found on the cytoplasmic face of coated vesicles in the plasma
            membrane. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5700
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..5700
                     /gene="AP2B1"
                     /gene_synonym="ADTB2; AP105B; AP2-BETA; CLAPB1"
                     /note="adaptor related protein complex 2 subunit beta 1"
                     /db_xref="GeneID:163"
                     /db_xref="HGNC:HGNC:563"
                     /db_xref="MIM:601025"
     misc_feature    116..118
                     /gene="AP2B1"
                     /gene_synonym="ADTB2; AP105B; AP2-BETA; CLAPB1"
                     /note="upstream in-frame stop codon"
     CDS             131..2986
                     /gene="AP2B1"
                     /gene_synonym="ADTB2; AP105B; AP2-BETA; CLAPB1"
                     /note="isoform a is encoded by transcript variant 1;
                     adaptin, beta 2 (beta); adapter-related protein complex 2
                     subunit beta; adaptor-related protein complex 2 subunit
                     beta; clathrin-associated/assembly/adaptor protein, large,
                     beta 1; AP-2 complex subunit beta; plasma membrane adaptor
                     HA2/AP2 adaptin beta subunit; clathrin assembly protein
                     complex 2 beta large chain; beta-adaptin; beta-2-adaptin;
                     adaptor protein complex AP-2 subunit beta; adapter-related
                     protein complex 2 beta subunit; testicular tissue protein
                     Li 22; adaptor related protein complex 2 beta 1 subunit;
                     beta2-adaptin"
                     /codon_start=1
                     /product="AP-2 complex subunit beta isoform a"
                     /protein_id="NP_001025177.1"
                     /db_xref="CCDS:CCDS32621.1"
                     /db_xref="GeneID:163"
                     /db_xref="HGNC:HGNC:563"
                     /db_xref="MIM:601025"
                     /translation="MTDSKYFTTNKKGEIFELKAELNNEKKEKRKEAVKKVIAAMTVGK
                     DVSSLFPDVVNCMQTDNLELKKLVYLYLMNYAKSQPDMAIMAVNSFVKDCEDPNPLIRA
                     LAVRTMGCIRVDKITEYLCEPLRKCLKDEDPYVRKTAAVCVAKLHDINAQMVEDQGFLD
                     SLRDLIADSNPMVVANAVAALSEISESHPNSNLLDLNPQNINKLLTALNECTEWGQIFI
                     LDCLSNYNPKDDREAQSICERVTPRLSHANSAVVLSAVKVLMKFLELLPKDSDYYNMLL
                     KKLAPPLVTLLSGEPEVQYVALRNINLIVQKRPEILKQEIKVFFVKYNDPIYVKLEKLD
                     IMIRLASQANIAQVLAELKEYATEVDVDFVRKAVRAIGRCAIKVEQSAERCVSTLLDLI
                     QTKVNYVVQEAIVVIRDIFRKYPNKYESIIATLCENLDSLDEPDARAAMIWIVGEYAER
                     IDNADELLESFLEGFHDESTQVQLTLLTAIVKLFLKKPSETQELVQQVLSLATQDSDNP
                     DLRDRGYIYWRLLSTDPVTAKEVVLSEKPLISEETDLIEPTLLDELICHIGSLASVYHK
                     PPNAFVEGSHGIHRKHLPIHHGSTDAGDSPVGTTTATNLEQPQVIPSQGDLLGDLLNLD
                     LGPPVNVPQVSSMQMGAVDLLGGGLDSLLGSDLGGGIGGSPAVGQSFIPSSVPATFAPS
                     PTPAVVSSGLNDLFELSTGIGMAPGGYVAPKAVWLPAVKAKGLEISGTFTHRQGHIYME
                     MNFTNKALQHMTDFAIQFNKNSFGVIPSTPLAIHTPLMPNQSIDVSLPLNTLGPVMKME
                     PLNNLQVAVKNNIDVFYFSCLIPLNVLFVEDGKMERQVFLATWKDIPNENELQFQIKEC
                     HLNADTVSSKLQNNNVYTIAKRNVEGQDMLYQSLKLTNGIWILAELRIQPGNPNYTLSL
                     KCRAPEVSQYIYQVYDSILKN"
     misc_feature    134..136
                     /gene="AP2B1"
                     /gene_synonym="ADTB2; AP105B; AP2-BETA; CLAPB1"
                     /note="N-acetylthreonine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P63010.1); acetylation site"
     misc_feature    140..142
                     /gene="AP2B1"
                     /gene_synonym="ADTB2; AP105B; AP2-BETA; CLAPB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P63010.1); phosphorylation site"
     misc_feature    923..925
                     /gene="AP2B1"
                     /gene_synonym="ADTB2; AP105B; AP2-BETA; CLAPB1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P63010.1); acetylation site"
     misc_feature    2381..2383
                     /gene="AP2B1"
                     /gene_synonym="ADTB2; AP105B; AP2-BETA; CLAPB1"
                     /note="Phosphotyrosine, by SRC.
                     /evidence=ECO:0000269|PubMed:17456551,
                     ECO:0000269|PubMed:18938240; propagated from
                     UniProtKB/Swiss-Prot (P63010.1); phosphorylation site"
     misc_feature    2693..2983
                     /gene="AP2B1"
                     /gene_synonym="ADTB2; AP105B; AP2-BETA; CLAPB1"
                     /note="propagated from UniProtKB/Swiss-Prot (P63010.1);
                     Region: Interaction with ARRB1"
     misc_feature    2954..2956
                     /gene="AP2B1"
                     /gene_synonym="ADTB2; AP105B; AP2-BETA; CLAPB1"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P62944; propagated from
                     UniProtKB/Swiss-Prot (P63010.1); phosphorylation site"
     regulatory      5678..5683
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP2B1"
                     /gene_synonym="ADTB2; AP105B; AP2-BETA; CLAPB1"
                     /note="hexamer: AATAAA"
     polyA_site      5700
                     /gene="AP2B1"
                     /gene_synonym="ADTB2; AP105B; AP2-BETA; CLAPB1"
                     /note="major polyA site"
ORIGIN
        1 agacctagaa aagaatcgtg acgggcagga aaccattaca ccaccacctg ggctgtgctc
       61 tccggctccc gccgccaccc ccgccctcgc cttcgcctcc gcctccggtg cacattaaag
      121 atccaaagtc atgactgact ccaagtattt cacaaccaat aaaaaaggag aaatatttga
      181 actaaaagct gaactcaaca atgaaaagaa agaaaagaga aaggaggctg tgaagaaagt
      241 gattgctgct atgaccgtgg ggaaggatgt tagttctctc tttccagacg tagtgaactg
      301 tatgcagact gacaatctgg aactaaagaa gcttgtgtat ctctacttga tgaactacgc
      361 caagagtcag ccagacatgg ccatcatggc tgtaaacagc tttgtgaagg actgtgaaga
      421 tcctaatcct ttgattcgag ccttggcagt cagaaccatg gggtgcatcc gggtagacaa
      481 aattacagaa tatctctgtg agccgctccg caagtgcttg aaggatgagg atccctatgt
      541 tcggaaaaca gcagcagtct gcgtggcaaa actccatgat atcaatgccc aaatggtgga
      601 agatcaggga tttctggatt ctctacggga tctcatagca gattcaaatc caatggtggt
      661 ggctaatgcc gtagcggcat tatctgaaat cagtgagtct cacccaaaca gcaacttact
      721 tgatctgaac ccacagaaca ttaataagct gctgacagcc ctgaatgaat gcactgaatg
      781 gggccagatt ttcatcctgg actgcctgtc taattacaac cctaaagatg atcgggaggc
      841 tcagagcatc tgtgagcggg taactccccg gctatcccat gccaactcag cagtggtgct
      901 ttcagcggta aaagtcctaa tgaagtttct agaattgtta cctaaggatt ctgactacta
      961 caatatgctg ctgaagaagt tagcccctcc acttgtcact ttgctgtctg gggagccaga
     1021 agtgcagtat gtcgccctga ggaacatcaa cttaattgtc cagaaaaggc ctgaaatctt
     1081 gaagcaggaa atcaaagtct tctttgtgaa gtacaatgat cccatctatg ttaaactaga
     1141 gaagttggac atcatgattc gtttggcatc tcaagccaac attgctcagg ttctggcaga
     1201 actgaaagaa tatgctacag aggtggatgt tgactttgtt cgaaaagctg tgcgggccat
     1261 tggacggtgt gccatcaagg tggagcaatc tgcagagcgc tgtgtaagca cattgcttga
     1321 tctaatccag accaaagtga attatgtggt ccaagaagca attgttgtca tcagggacat
     1381 cttccgcaaa taccccaaca agtatgaaag tatcatcgcc actctgtgtg agaacttaga
     1441 ctcgctggat gagccagatg ctcgagcagc tatgatttgg attgtgggag aatatgctga
     1501 aagaattgac aatgcagatg agttactaga aagcttcctg gagggttttc acgatgaaag
     1561 cacccaggtg cagctcactc tgcttactgc catagtgaag ctgtttctca agaaaccatc
     1621 agaaacacag gagctagtcc agcaggtctt gagtttggca acacaggatt ctgataatcc
     1681 tgaccttcga gaccggggct atatttattg gcgccttctc tcaactgacc ctgttacagc
     1741 taaagaagta gtcttgtctg agaagccact gatctctgag gagacggacc ttattgagcc
     1801 aactctgctg gatgagctaa tctgccacat tggttctttg gcctctgtgt atcataagcc
     1861 tcccaatgct tttgtggaag gaagtcatgg aattcatcgt aaacacttgc caattcatca
     1921 tgggagcact gatgcaggtg acagccctgt tggcactacc actgcaacga acctggaaca
     1981 gcctcaggtt atcccctctc aaggtgatct tctaggggat cttttaaacc ttgacctcgg
     2041 tcccccagtc aatgtgccac aggtgtcctc catgcagatg ggagcagtgg atctcctagg
     2101 aggaggacta gatagtctgc ttggcagtga ccttggcggg ggcattggag gaagtccggc
     2161 agtgggacaa tccttcatcc catcatcggt gcctgcaacc tttgctcctt cacctacacc
     2221 tgctgtggtc agcagtggac tgaatgacct gtttgaactc tccacaggga taggcatggc
     2281 acctggtgga tatgtggctc ctaaggctgt ctggctacct gcagtaaagg ctaaaggctt
     2341 ggagatttcc ggaacattta ctcaccgcca agggcacatc tatatggaaa tgaacttcac
     2401 caataaagct ctgcagcaca tgacagattt tgcaatccag tttaacaaaa atagctttgg
     2461 tgtcatcccc agcactcctc tggccatcca tacaccactg atgccaaacc agagcattga
     2521 tgtctccctg cctctcaata ccttgggccc agtcatgaag atggaacctc tgaataacct
     2581 ccaggtggct gtgaaaaaca atatcgatgt cttctacttc agctgcctca tcccactcaa
     2641 tgtgcttttt gtagaagatg gcaaaatgga gcgccaggtc ttccttgcaa catggaagga
     2701 tattcccaat gaaaatgaac ttcagtttca gattaaggaa tgtcatttaa atgctgacac
     2761 tgtttccagc aagttgcaaa acaacaatgt ttatactatt gccaagagga atgtggaagg
     2821 gcaggacatg ctgtaccaat ccctgaagct cactaatggc atttggattt tggccgaact
     2881 acgtatccag ccaggaaacc ccaattacac gctgtcactg aagtgtagag ctcctgaagt
     2941 ctctcaatac atctatcagg tctacgacag cattttgaaa aactaacaag actggtccag
     3001 tacccttcaa ccatgctgtg atcggtgcaa gtcaagaact cttaactgga agaaattgta
     3061 ttgctgcgta gaatctgaac acactgaggc cacctagcaa ggtagtaact agtctaacct
     3121 gtgctaacat tagggcacaa cctgttggat agttttagct tcctgtgaac atttgtaacc
     3181 actgcttcag tcacctccca cctcttgcca cctgctgctg ctatctgtcc ttacttgtgg
     3241 gcttctccat gctgtgccaa tggctggctt tttctacacc ctcttttgag tgtagtttgg
     3301 tattttgtaa ttgagagctc atttcaaaag cagaaaaaga caacaaatat taaagcaagg
     3361 aaaagtgtaa ctgaaacact gcactttact gttttatact tttgtacata tgagaaatca
     3421 agggattagt gcaaccagta gaaagcattg aaatgactgt cattaaccac acagtcctgg
     3481 aggcagagat gcagttacct accctagctt ttgatgggtt ctcttacctg tagtagcctt
     3541 atccctggtc atttggattt tcagtttgct tttttctttt tttcccctcc aaactccttt
     3601 tccttggcca agccttcatg cttccccctt tccatattat aatctcattt gattgctctg
     3661 cagttgggaa cggtgatctt cttgaatgat gtttcagtgt gcaaaaacta tagagcctgt
     3721 cagcaccaaa gctgacagaa gttatacctt actcctttcc tttcccctga acaaacctgc
     3781 taatcccact aattcaggaa tttgagtaga gatggggaac aagaacccag atgctgtccc
     3841 ctcaccccct ctcctgtatt tctcaggtcc agttcaaatc taaaattcta cttttagagt
     3901 tgaaacagag taataactta tctaaccctc ttttcctaca aaggagaaag ataaaaggca
     3961 caaaggttac cgccaaggcc cgtcagctgt gtagtggcaa agccgagacc gagtctccta
     4021 agtccccgtc agtgtggttt tcaccacagg actgtctctt gtcgttttcc cctaatgcct
     4081 tctcctgcct tttctgtgcc tagtttttgg ctcttcacat attccatatt gattttgacg
     4141 ctctgtatat tggcatcagg tggcagctga atatcttttg aattactcga aggtaaagcc
     4201 agatgccaga atgaaggtgt agccagtgtt tcccatatgc ccctggagcc ccacttattg
     4261 aggccagcag aataggtgca gagatgaagt gagcttagag atgttgcaaa tgctctttat
     4321 cccttcagct ctctgatctg ctctttcttc atgatactta gtctgcaggg catattaaga
     4381 tcatcccaga ggttcaggca gttcctgtca tctctgaaaa gactggggga tatgaaatct
     4441 tccccctacc ccacttaatg cgttggatat gatttttcaa agaatgcttc atgcccaaaa
     4501 taccagcctg tttagcagtg ttacactgtt tgatctgcgg gcacttgttg cattgcctgg
     4561 cacccaatat tcagggtcca tgactaagac tggtcttctc agatgccctg cttaaatcag
     4621 gggcacttca ggctccacag gcgtcatgtt ggactgagac ctaactcact ggactcagag
     4681 gaggaatcgt ggaaaacaag agcaaaacta ccccacaccc ctatttcatg tctgaaataa
     4741 ccctgtttca taccagttgc aaagcttgtg gggagcggtc ccacaaagca ctttcttaaa
     4801 ccttgagaat ctccaagaga aaaatatttg gggaaggagg gaggaaatat gtcccttgca
     4861 caccacccct gaagcacatg gcagtaggaa acagcatagg attgtatgtg ggaggtggat
     4921 aggtcggtga tgtgtggagc ggaaaagcag gttggtaaag ttcccttctt gggacttatt
     4981 cctggagtca gtggatacaa gtagtgcaga aggttcacac tgcaaatagt gttctcatct
     5041 caaagcaaac tatcattcca gaaggaaaag tgtgtcaggg caagcagaca acacaatttc
     5101 ctatcagaat atgtccctca acccccgaaa caaggcttct ctcagcctcc ccaccagtga
     5161 tggataacag ctcctattct cagctgacct gactgagcca acccatgaac tcttcactcc
     5221 ttggggaagc cacctcccat cacacccctg agcagagtta gggaggaatt ctacttccca
     5281 taaaaggacc tctcctgaga ggcaaaacct gttgcctcca ccacggcttc cctcttggct
     5341 cattccaagc ttggccaaat tggggaagtg ggatggaggt tgccctgcat cccccctcct
     5401 ctgcctgagt gtgtctttgt aatgtcagct ggcatcatac aaagagcagg agaagcaaac
     5461 acccagaact cttttgctgg tcagagattc cctgagtgtc tgtcctcacc caagcctgct
     5521 ctgtgtctgt gttgtgaagc ttgagactct ggaaagaaat ggggaggggg ggcaggggaa
     5581 atgttgccct aagaatgctt ctcattcctc tgttcttatt gggtcctgtt tttcgggagg
     5641 gtgggggttg ggggaagctt gaccttgtgt cttcgtcaat aaactcacat ttacacaaaa
//
LOCUS       NM_001030013            1231 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens neuropeptide S (NPS), mRNA.
ACCESSION   NM_001030013
VERSION     NM_001030013.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1231)
  AUTHORS   Cherik F, Lepage M, Remerand G, Francannet C, Delabaere A, Salaun G,
            Pebrel-Richard C, Gouas L, Vago P, Tchirkov A and Goumy C.
  TITLE     Further refining the critical region of 10q26 microdeletion
            syndrome: A possible involvement of INSYN2 and NPS in the cognitive
            phenotype
  JOURNAL   Eur J Med Genet 64 (9), 104287 (2021)
   PUBMED   34252586
  REMARK    GeneRIF: Further refining the critical region of 10q26 microdeletion
            syndrome: A possible involvement of INSYN2 and NPS in the cognitive
            phenotype.
REFERENCE   2  (bases 1 to 1231)
  AUTHORS   Reinscheid RK, Mafessoni F, Luttjohann A, Jungling K, Pape HC and
            Schulz S.
  TITLE     Neandertal introgression and accumulation of hypomorphic mutations
            in the neuropeptide S (NPS) system promote attenuated functionality
  JOURNAL   Peptides 138, 170506 (2021)
   PUBMED   33556445
  REMARK    GeneRIF: Neandertal introgression and accumulation of hypomorphic
            mutations in the neuropeptide S (NPS) system promote attenuated
            functionality.
REFERENCE   3  (bases 1 to 1231)
  AUTHORS   Holanda VAD, Oliveira MC, Souza LS, Lobao-Soares B, Andre E, Da
            Silva Junior ED, Guerrini R, Calo G, Ruzza C and Gavioli EC.
  TITLE     Dopamine D1 and D2 receptors mediate neuropeptide S-induced
            antinociception in the mouse formalin test
  JOURNAL   Eur J Pharmacol 859, 172557 (2019)
   PUBMED   31326375
  REMARK    GeneRIF: analgesic effects of NPS are linked with dopaminergic
            neurotransmission mainly through dopamine D2-like receptor signaling
REFERENCE   4  (bases 1 to 1231)
  AUTHORS   Acevedo N, Ezer S, Kebede Merid S, Gaertner VD, Soderhall C, D'Amato
            M, Kabesch M, Melen E, Kere J and Pulkkinen V.
  TITLE     Neuropeptide S (NPS) variants modify the signaling and risk effects
            of NPS Receptor 1 (NPSR1) variants in asthma
  JOURNAL   PLoS One 12 (5), e0176568 (2017)
   PUBMED   28463995
  REMARK    GeneRIF: SNPs modify asthma risk Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1231)
  AUTHORS   Deng C, He X and Hsueh AJ.
  TITLE     A single-nucleotide polymorphism of human neuropeptide s gene
            originated from Europe shows decreased bioactivity
  JOURNAL   PLoS One 8 (12), e83009 (2013)
   PUBMED   24386135
  REMARK    GeneRIF: A SNP within the neuropeptide s gene is associated with
            decreased bioactivity. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1231)
  AUTHORS   Reinscheid RK and Xu YL.
  TITLE     Neuropeptide S and its receptor: a newly deorphanized G
            protein-coupled receptor system
  JOURNAL   Neuroscientist 11 (6), 532-538 (2005)
   PUBMED   16282594
  REMARK    Review article
REFERENCE   7  (bases 1 to 1231)
  AUTHORS   Reinscheid RK and Xu YL.
  TITLE     Neuropeptide S as a novel arousal promoting peptide transmitter
  JOURNAL   FEBS J 272 (22), 5689-5693 (2005)
   PUBMED   16279934
  REMARK    Review article
REFERENCE   8  (bases 1 to 1231)
  AUTHORS   Vendelin J, Pulkkinen V, Rehn M, Pirskanen A, Raisanen-Sokolowski A,
            Laitinen A, Laitinen LA, Kere J and Laitinen T.
  TITLE     Characterization of GPRA, a novel G protein-coupled receptor related
            to asthma
  JOURNAL   Am J Respir Cell Mol Biol 33 (3), 262-270 (2005)
   PUBMED   15947423
REFERENCE   9  (bases 1 to 1231)
  AUTHORS   Xu YL, Reinscheid RK, Huitron-Resendiz S, Clark SD, Wang Z, Lin SH,
            Brucher FA, Zeng J, Ly NK, Henriksen SJ, de Lecea L and Civelli O.
  TITLE     Neuropeptide S: a neuropeptide promoting arousal and anxiolytic-like
            effects
  JOURNAL   Neuron 43 (4), 487-497 (2004)
   PUBMED   15312648
REFERENCE   10  (bases 1 to 1231)
  AUTHORS   Feldman DS, Zamah AM, Pierce KL, Miller WE, Kelly F, Rapacciuolo A,
            Rockman HA, Koch WJ and Luttrell LM.
  TITLE     Selective inhibition of heterotrimeric Gs signaling. Targeting the
            receptor-G protein interface using a peptide minigene encoding the
            Galpha(s) carboxyl terminus
  JOURNAL   J Biol Chem 277 (32), 28631-28640 (2002)
   PUBMED   12036966
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000398023.3/ ENSP00000381105.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355316.12.
            On Nov 27, 2019 this sequence version replaced NM_001030013.1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1231
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.2"
     gene            1..1231
                     /gene="NPS"
                     /note="neuropeptide S"
                     /db_xref="GeneID:594857"
                     /db_xref="HGNC:HGNC:33940"
                     /db_xref="MIM:609513"
     CDS             61..330
                     /gene="NPS"
                     /note="prepro-neuropeptide S"
                     /codon_start=1
                     /product="neuropeptide S precursor"
                     /protein_id="NP_001025184.1"
                     /db_xref="CCDS:CCDS41577.1"
                     /db_xref="GeneID:594857"
                     /db_xref="HGNC:HGNC:33940"
                     /db_xref="MIM:609513"
                     /translation="MISSVKLNLILVLSLSTMHVFWCYPVPSSKVSGKSDYFLILLNSC
                     PTRLDRSKELAFLKPILEKMFVKRSFRNGVGTGMKKTSFQRAKS"
     sig_peptide     61..129
                     /gene="NPS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     268..327
                     /gene="NPS"
                     /product="Neuropeptide S. /id=PRO_0000042889"
                     /note="propagated from UniProtKB/Swiss-Prot (P0C0P6.1)"
     regulatory      916..921
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPS"
                     /note="hexamer: AATATA"
     polyA_site      938
                     /gene="NPS"
                     /note="major polyA site"
     regulatory      1214..1219
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPS"
                     /note="hexamer: AATAAA"
     polyA_site      1231
                     /gene="NPS"
ORIGIN
        1 gtaagtgtga gaaatttggc aataaaacca cctatcttta cagattttgg gaagtccaaa
       61 atgattagct cagtaaaact caatctcatc ctagttctgt cgctgtccac aatgcatgtg
      121 ttttggtgtt atccagttcc atcttctaag gtgtctggaa aatctgatta ctttctcatt
      181 ctgctgaaca gctgcccaac cagattggac aggagcaaag aactagcttt tctaaagcca
      241 attttggaga agatgtttgt gaaaaggtcc tttcgcaatg gagttggcac agggatgaaa
      301 aaaacttcct ttcaaagagc aaaatcatga ctaagtgtgc aaaggactcg gggaattaat
      361 ctaactgtag agtgtgactg acgtactcaa agtccatcgt ctctttatca ttgagtgttg
      421 gcatgctctc tattctcaaa tatctttcct ctcctgactg gtacagagta aattgagtaa
      481 aaaaagaaaa aaaatgtaaa catgtctcaa acctgtctca aacttccact tgtgagagaa
      541 aaaacaattt atgtggtcca ttagtaactt tttcctgaat gggatggaca cttttgcttt
      601 gcttttaact tggccagaaa gcatgagcat gttgacagtc atcacgatag tatgattttt
      661 tttttcctgc ctgtaatatc ataacacgaa tactgtgata tttgtttttc tttttaatac
      721 cgttttctca aatgacttaa caggctcaat tcttggggtg gggggatgtg ctatttctgt
      781 ttctaagggg cttgtgaagt taaccaaaat taaggtgaat ggtacagctg tatcaattga
      841 ttaattaatt gataccaaga acaaacatcc ctggagcact ctagatgtaa ttcttgtctc
      901 ccttttccta ttccaaatat acttagctat agggtgttgt tttgttgtct tgtcttggaa
      961 atttgttgcc ttttaaaatc tttaagcaca gaaatgctgc cagtaacaac aacaacagag
     1021 agactgagag tgccctgtgt tgtcagggca gccatttgga aacctgttcc ccaaactatg
     1081 ctgattaatg ccctctcctt tcccccatcc ttccaggaaa gactgcccac tctttgcact
     1141 gaaactcctg acactccttt tttaaaagga taatgcgaca ttggttgacg tgttatttca
     1201 aatgcataat gttaataaat ctgttcacgc a
//
LOCUS       NM_001030019            1425 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript
            variant 1, mRNA.
ACCESSION   NM_001030019
VERSION     NM_001030019.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1425)
  AUTHORS   Chio A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora
            G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee
            LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D,
            Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli
            S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A,
            Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La
            Bella V, Valentino F, Monsurro MR, Tedeschi G, Marinou K, Sabatelli
            M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G,
            Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP,
            Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S,
            Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A,
            Hardy J and Traynor BJ.
  TITLE     A two-stage genome-wide association study of sporadic amyotrophic
            lateral sclerosis
  JOURNAL   Hum Mol Genet 18 (8), 1524-1532 (2009)
   PUBMED   19193627
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   2  (bases 1 to 1425)
  AUTHORS   Osada N, Hida M, Kusuda J, Tanuma R, Hirata M, Suto Y, Hirai M,
            Terao K, Sugano S and Hashimoto K.
  TITLE     Cynomolgus monkey testicular cDNAs for discovery of novel human
            genes in the human genome sequence
  JOURNAL   BMC Genomics 3 (1), 36 (2002)
   PUBMED   12498619
  REMARK    GeneRIF: cDNA of Macaca fascicularis used to identify a novel human
            gene, SUNC1.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.213369.1,
            SRR5189667.342923.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148874
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000297325.9/ ENSP00000297325.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF429967.1, BC026189.2 and BU623138.1.
            On Nov 23, 2018 this sequence version replaced NM_001030019.1.
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1425
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p12.3"
     gene            1..1425
                     /gene="SUN3"
                     /gene_synonym="SUNC1"
                     /note="Sad1 and UNC84 domain containing 3"
                     /db_xref="GeneID:256979"
                     /db_xref="HGNC:HGNC:22429"
                     /db_xref="MIM:618984"
     misc_feature    161..163
                     /gene="SUN3"
                     /gene_synonym="SUNC1"
                     /note="upstream in-frame stop codon"
     CDS             170..1243
                     /gene="SUN3"
                     /gene_synonym="SUNC1"
                     /note="isoform 1 is encoded by transcript variant 1; Sad1
                     and UNC84 domain containing 1; sad1/unc-84
                     domain-containing protein 1; SUN domain-containing protein
                     3; hypothetical protein MGC33329"
                     /codon_start=1
                     /product="SUN domain-containing protein 3 isoform 1"
                     /protein_id="NP_001025190.1"
                     /db_xref="CCDS:CCDS34636.1"
                     /db_xref="GeneID:256979"
                     /db_xref="HGNC:HGNC:22429"
                     /db_xref="MIM:618984"
                     /translation="MSGKTKARRAAMFFRRCSEDASGSASGNALLSEDENPDANGVTRS
                     WKIILSTMLTLTFLLVGLLNHQWLKETDVPQKSRQLYAIIAEYGSRLYKYQARLRMPKE
                     QLELLKKESQNLENNFRQILFLIEQIDVLKALLRDMKDGMDNNHNWNTHGDPVEDPDHT
                     EEVSNLVNYVLKKLREDQVEMADYALKSAGASIIEAGTSESYKNNKAKLYWHGIGFLNH
                     EMPPDIILQPDVYPGKCWAFPGSQGHTLIKLATKIIPTAVTMEHISEKVSPSGNISSAP
                     KEFSVYGITKKCEGEEIFLGQFIYNKTGTTVQTFELQHAVSEYLLCVKLNIFSNWGHPK
                     YTCLYRFRVHGTPGKHI"
     misc_feature    311..361
                     /gene="SUN3"
                     /gene_synonym="SUNC1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TAQ9.4);
                     transmembrane region"
     regulatory      1382..1387
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SUN3"
                     /gene_synonym="SUNC1"
                     /note="hexamer: AGTAAA"
     regulatory      1399..1404
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SUN3"
                     /gene_synonym="SUNC1"
                     /note="hexamer: AATAAA"
     polyA_site      1408
                     /gene="SUN3"
                     /gene_synonym="SUNC1"
     polyA_site      1425
                     /gene="SUN3"
                     /gene_synonym="SUNC1"
                     /note="major polyA site"
ORIGIN
        1 agaagctttt caaaattccg tcttcaagaa gaaacacccg tggaggaaga agacattata
       61 caaaacaaat ttagaaactg tatgtatagc ttcatgtttt tcataaaata ggaatgagga
      121 caaatgttgc tcttcatcct accagctgtt tgttctttgg taggggatca tgagtggaaa
      181 aacaaaggca agaagggctg ccatgttttt tagacgttgc tctgaagacg ccagcggtag
      241 cgccagtggc aatgctttgt tatcagagga cgaaaatcct gatgcgaatg gggtaactcg
      301 atcatggaag attattctaa gtacaatgct tacactgact tttcttcttg taggactcct
      361 aaatcatcag tggcttaaag aaacagatgt tcctcagaaa tccagacaat tatatgccat
      421 aattgcagaa tatggttcaa ggctttataa atatcaggcc agacttcgta tgcctaaaga
      481 gcaactggaa cttttaaaga aggaaagcca gaatctggaa aacaattttc gtcaaattct
      541 atttttgatc gaacaaatag atgtcctgaa ggcattgcta agagatatga aggatggtat
      601 ggacaataat cacaactgga acacccatgg agaccctgtg gaggacccgg accacacaga
      661 ggaagtgtca aacttggtca attatgtact taaaaagttg agagaagacc aagtcgagat
      721 ggctgattat gccctgaagt cggccggagc ctccatcatt gaagctggga cctcagaaag
      781 ttataaaaat aataaagcaa aattgtactg gcatgggata ggtttcctaa atcatgaaat
      841 gcctccagat attattcttc agccggatgt ctaccctgga aagtgctggg cttttccagg
      901 ttcccagggt cataccctaa tcaagcttgc tacaaagatc ataccaactg ctgttaccat
      961 ggagcacatc tcagagaagg tgtctccgtc aggaaacatc tccagtgcac ccaaggaatt
     1021 ttctgtctat ggcatcacaa aaaaatgtga aggagaagaa attttcctag gtcagtttat
     1081 atataacaaa acaggaacca ccgttcaaac atttgaactc cagcatgcag tttctgaata
     1141 tttattatgt gtgaaactta atatctttag caactgggga cacccgaagt atacttgttt
     1201 atatcgattc agggtccatg gcacaccagg caagcacatc tagaagagtt ggtacagaag
     1261 gccatgccac atgtccagaa tattcaagaa tgcttattct cttagatgat accgcaccca
     1321 taggaattga gaattgggag tgggaagaaa acctcaaagt ggttcatact tgcctgtaaa
     1381 aagtaaatgc attttactaa taaaaaaata tggaagtaaa ttaaa
//
LOCUS       NM_001030055            9589 bp    mRNA    linear   PRI 10-APR-2023
DEFINITION  Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript
            variant 1, mRNA.
ACCESSION   NM_001030055
VERSION     NM_001030055.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9589)
  AUTHORS   Deng S, Qian L, Liu L, Liu H, Xu Z, Liu Y, Wang Y, Chen L and Zhou
            Y.
  TITLE     Circular RNA ARHGAP5 inhibits cisplatin resistance in cervical
            squamous cell carcinoma by interacting with AUF1
  JOURNAL   Cancer Sci 114 (4), 1582-1595 (2023)
   PUBMED   36632741
  REMARK    GeneRIF: Circular RNA ARHGAP5 inhibits cisplatin resistance in
            cervical squamous cell carcinoma by interacting with AUF1.
REFERENCE   2  (bases 1 to 9589)
  AUTHORS   Lippincott MF, Xu W, Smith AA, Miao X, Lafont A, Shennib O, Farley
            GJ, Sabbagh R, Delaney A, Stamou M, Plummer L, Salnikov K,
            Georgopoulos NA, Mericq V, Quinton R, Mau-Them FT, Nambot S, Hamad
            A, Brittain H, Tooze RS, Calpena E, Wilkie AOM, Willems M, Crowley
            WF, Balasubramanian R, Lamarche-Vane N, Davis EE and Seminara SB.
  TITLE     The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH
            neuronal development: Evidence from patients with idiopathic
            hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity
            assay
  JOURNAL   Genet Med 24 (12), 2501-2515 (2022)
   PUBMED   36178483
  REMARK    GeneRIF: The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in
            GnRH neuronal development: Evidence from patients with idiopathic
            hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity
            assay.
REFERENCE   3  (bases 1 to 9589)
  AUTHORS   Tian T, Chen ZH, Zheng Z, Liu Y, Zhao Q, Liu Y, Qiu H, Long Q, Chen
            M, Li L, Xie F, Luo G, Wu X and Deng W.
  TITLE     Investigation of the role and mechanism of ARHGAP5-mediated
            colorectal cancer metastasis
  JOURNAL   Theranostics 10 (13), 5998-6010 (2020)
   PUBMED   32483433
  REMARK    GeneRIF: Investigation of the role and mechanism of ARHGAP5-mediated
            colorectal cancer metastasis. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 9589)
  AUTHORS   Dong G, Wang B, An Y, Li J, Wang X, Jia J and Yang Q.
  TITLE     SIRT1 suppresses the migration and invasion of gastric cancer by
            regulating ARHGAP5 expression
  JOURNAL   Cell Death Dis 9 (10), 977 (2018)
   PUBMED   30250020
  REMARK    GeneRIF: These results indicate that SIRT1 suppresses migration and
            invasion of gastric cancer by downregulating ARHGAP5 through an
            interaction with c-JUN, and these phenomena represent a novel
            mechanism of the antitumor action of SIRT1. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 9589)
  AUTHORS   Mychaleckyj JC, Havt A, Nayak U, Pinkerton R, Farber E, Concannon P,
            Lima AA and Guerrant RL.
  TITLE     Genome-Wide Analysis in Brazilians Reveals Highly Differentiated
            Native American Genome Regions
  JOURNAL   Mol Biol Evol 34 (3), 559-574 (2017)
   PUBMED   28100790
  REMARK    GeneRIF: Brazilian Amerindian ancestry compared to Asian, European,
            and African Genomes.SNPs within or proximal to CIITA (rs6498115),
            SMC6 (rs1834619), and KLHL29 (rs2288697) were most differentiated in
            the Amerindian-specific branch. SNPs in ADAMTS9 (rs7631391), DOCK2
            (rs77594147), SLC28A1 (rs28649017), ARHGAP5 (rs7151991), and CIITA
            (rs45601437) in the Asian comparison.
REFERENCE   6  (bases 1 to 9589)
  AUTHORS   Chakravarty G, Roy D, Gonzales M, Gay J, Contreras A and Rosen JM.
  TITLE     P190-B, a Rho-GTPase-activating protein, is differentially expressed
            in terminal end buds and breast cancer
  JOURNAL   Cell Growth Differ 11 (7), 343-354 (2000)
   PUBMED   10939588
REFERENCE   7  (bases 1 to 9589)
  AUTHORS   Zrihan-Licht S, Fu Y, Settleman J, Schinkmann K, Shaw L, Keydar I,
            Avraham S and Avraham H.
  TITLE     RAFTK/Pyk2 tyrosine kinase mediates the association of p190 RhoGAP
            with RasGAP and is involved in breast cancer cell invasion
  JOURNAL   Oncogene 19 (10), 1318-1328 (2000)
   PUBMED   10713673
REFERENCE   8  (bases 1 to 9589)
  AUTHORS   Burbelo PD, Miyamoto S, Utani A, Brill S, Yamada KM, Hall A and
            Yamada Y.
  TITLE     p190-B, a new member of the Rho GAP family, and Rho are induced to
            cluster after integrin cross-linking
  JOURNAL   J Biol Chem 270 (52), 30919-30926 (1995)
   PUBMED   8537347
REFERENCE   9  (bases 1 to 9589)
  AUTHORS   Foster R, Hu KQ, Shaywitz DA and Settleman J.
  TITLE     p190 RhoGAP, the major RasGAP-associated protein, binds GTP directly
  JOURNAL   Mol Cell Biol 14 (11), 7173-7181 (1994)
   PUBMED   7935432
REFERENCE   10  (bases 1 to 9589)
  AUTHORS   Ellis C, Moran M, McCormick F and Pawson T.
  TITLE     Phosphorylation of GAP and GAP-associated proteins by transforming
            and mitogenic tyrosine kinases
  JOURNAL   Nature 343 (6256), 377-381 (1990)
   PUBMED   1689011
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.20632.1,
            SRR1660807.242455.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000345122.8/ ENSP00000371897.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161665.5, BC050059.1 and
            AL045112.1.
            On Nov 22, 2018 this sequence version replaced NM_001030055.1.
            Summary: Rho GTPase activating protein 5 negatively regulates RHO
            GTPases, a family which may mediate cytoskeleton changes by
            stimulating the hydrolysis of bound GTP. Two transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..9589
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     gene            1..9589
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="Rho GTPase activating protein 5"
                     /db_xref="GeneID:394"
                     /db_xref="HGNC:HGNC:675"
                     /db_xref="MIM:602680"
     misc_feature    280..282
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="upstream in-frame stop codon"
     CDS             301..4809
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="isoform a is encoded by transcript variant 1; growth
                     factor independent 2; rho GTPase-activating protein 5; p105
                     RhoGAP; p100 RasGAP-associated p105 protein; rho-type
                     GTPase-activating protein 5"
                     /codon_start=1
                     /product="rho GTPase-activating protein 5 isoform a"
                     /protein_id="NP_001025226.1"
                     /db_xref="CCDS:CCDS32062.1"
                     /db_xref="GeneID:394"
                     /db_xref="HGNC:HGNC:675"
                     /db_xref="MIM:602680"
                     /translation="MMAKNKEPRPPSYTISIVGLSGTEKDKGNCGVGKSCLCNRFVRSK
                     ADEYYPEHTSVLSTIDFGGRVVNNDHFLYWGDIIQNSEDGVECKIHVIEQTEFIDDQTF
                     LPHRSTNLQPYIKRAAASKLQSAEKLMYICTDQLGLEQDFEQKQMPEGKLNVDGFLLCI
                     DVSQGCNRKFDDQLKFVNNLFVQLSKSKKPVIIAATKCDECVDHYLREVQAFASNKKNL
                     LVVETSARFNVNIETCFTALVQMLDKTRSKPKIIPYLDAYKTQRQLVVTATDKFEKLVQ
                     TVRDYHATWKTVSNKLKNHPDYEEYINLEGTRKARNTFSKHIEQLKQEHIRKRREEYIN
                     TLPRAFNTLLPNLEEIEHLNWSEALKLMEKRADFQLCFVVLEKTPWDETDHIDKINDRR
                     IPFDLLSTLEAEKVYQNHVQHLISEKRRVEMKEKFKKTLEKIQFISPGQPWEEVMCFVM
                     EDEAYKYITEADSKEVYGRHQREIVEKAKEEFQEMLFEHSELFYDLDLNATPSSDKMSE
                     IHTVLSEEPRYKALQKLAPDRESLLLKHIGFVYHPTKETCLSGQNCTDIKVEQLLASSL
                     LQLDHGRLRLYHDSTNIDKVNLFILGKDGLAQELANEIRTQSTDDEYALDGKIYELDLR
                     PVDAKSPYFLSQLWTAAFKPHGCFCVFNSIESLSFIGEFIGKIRTEASQIRKDKYMANL
                     PFTLILANQRDSISKNLPILRHQGQQLANKLQCPFVDVPAGTYPRKFNETQIKQALRGV
                     LESVKHNLDVVSPIPANKDLSEADLRIVMCAMCGDPFSVDLILSPFLDSHSCSAAQAGQ
                     NNSLMLDKIIGEKRRRIQITILSYHSSIGVRKDELVHGYILVYSAKRKASMGMLRAFLS
                     EVQDTIPVQLVAVTDSQADFFENEAIKELMTEGEHIATEITAKFTALYSLSQYHRQTEV
                     FTLFFSDVLEKKNMIENSYLSDNTRESTHQSEDVFLPSPRDCFPYNNYPDSDDDTEAPP
                     PYSPIGDDVQLLPTPSDRSRYRLDLEGNEYPIHSTPNCHDHERNHKVPPPIKPKPVVPK
                     TNVKKLDPNLLKTIEAGIGKNPRKQTSRVPLAHPEDMDPSDNYAEPIDTIFKQKGYSDE
                     IYVVPDDSQNRIKIRNSFVNNTQGDEENGFSDRTSKSHGERRPSKYKYKSKTLFSKAKS
                     YYRRTHSDASDDEAFTTSKTKRKGRHRGSEEDPLLSPVETWKGGIDNPAITSDQELDDK
                     KMKKKTHKVKEDKKQKKKTKNFNPPTRRNWESNYFGMPLQDLVTAEKPIPLFVEKCVEF
                     IEDTGLCTEGLYRVSGNKTDQDNIQKQFDQDHNINLVSMEVTVNAVAGALKAFFADLPD
                     PLIPYSLHPELLEAAKIPDKTERLHALKEIVKKFHPVNYDVFRYVITHLNRVSQQHKIN
                     LMTADNLSICFWPTLMRPDFENREFLSTTKIHQSVVETFIQQCQFFFYNGEIVETTNIV
                     APPPPSNPGQLVEPMVPLQLPPPLQPQLIQPQLQTDPLGII"
     misc_feature    2068..2070
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13017.2); phosphorylation site"
     misc_feature    2593..2595
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q13017.2);
                     phosphorylation site"
     misc_feature    3151..3153
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q13017.2); phosphorylation site"
     misc_feature    3202..3204
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13017.2); phosphorylation site"
     misc_feature    3223..3312
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13017.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3364..3450
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13017.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3505..3567
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13017.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3643..3645
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q13017.2); phosphorylation site"
     misc_feature    3673..3768
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13017.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3802..4062
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13017.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3817..3819
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q13017.2);
                     phosphorylation site"
     misc_feature    3826..3828
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q13017.2);
                     phosphorylation site"
     misc_feature    3883..3885
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q13017.2); phosphorylation site"
     misc_feature    3904..3906
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q13017.2);
                     phosphorylation site"
     misc_feature    3952..3954
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13017.2); phosphorylation site"
     regulatory      7056..7061
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="hexamer: ATTAAA"
     polyA_site      7078
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="major polyA site"
     regulatory      7307..7312
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="hexamer: AATAAA"
     polyA_site      7326
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="major polyA site"
     regulatory      7841..7846
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="hexamer: AATACA"
     polyA_site      7869
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="major polyA site"
     regulatory      9565..9570
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="hexamer: AATAAA"
     polyA_site      9589
                     /gene="ARHGAP5"
                     /gene_synonym="GFI2; p190-B; p190BRhoGAP; RhoGAP5"
                     /note="major polyA site"
ORIGIN
        1 gaggaagaga ggcgagcgga gagtggagga ggaggcggcg gcggcgggag cggtccccag
       61 gaatgtcgct gccgccgcca ccgccggggc cgctgccgtt gaggaggaga cggaggagac
      121 cgacgttgtt aggaagatga tccctatgat cttgaagatg tttctgcaca gaaatgaggg
      181 aaatacaaag aaccaaatac agttctgaaa tttgggatct gtattttgag atgattttat
      241 tttcagaatg agaagcatat ctggttacct ttatgaatgt agagacatga gaagagagtt
      301 atgatggcaa aaaacaaaga gcctcgtccc ccatcctata ccatcagtat agttggactc
      361 tctgggactg aaaaagacaa aggtaactgt ggagttggaa agtcttgttt gtgcaataga
      421 tttgtacgct caaaagcaga tgaatattat ccagagcata cttctgtgct tagcaccatt
      481 gactttggag gacgagtagt aaacaatgat cactttttgt actggggtga cataatacaa
      541 aatagtgaag atggagtaga atgcaaaatt catgtcattg aacaaacaga gttcattgat
      601 gaccagactt tcttgcctca tcggagtacg aatttgcaac catatataaa acgtgcagct
      661 gcatctaaat tgcagtcagc agaaaaacta atgtacattt gcactgatca gctaggctta
      721 gaacaagact ttgaacagaa gcaaatgcct gaagggaagc tcaacgtaga tggattttta
      781 ttatgcattg atgtaagtca aggatgcaat aggaagtttg atgatcaact taaatttgtg
      841 aataaccttt ttgtccagtt atcaaaatca aaaaaacctg taataatagc agcaactaaa
      901 tgtgatgaat gcgtggatca ttatcttaga gaagttcagg catttgcttc aaataaaaag
      961 aaccttcttg tagtggaaac atcagcacga tttaatgtca acattgaaac atgttttact
     1021 gcactggtac aaatgttgga taaaactcgt agcaagccta aaattattcc ctatttggat
     1081 gcttataaaa cacagagaca acttgttgtc acagcaacag ataagtttga aaaacttgtg
     1141 cagactgtga gagattatca tgcaacttgg aaaactgtta gtaataaatt aaaaaatcat
     1201 cctgattatg aagaatacat caacttagag ggaacaagaa aggccagaaa tacattctca
     1261 aaacatatag aacaacttaa acaggaacat ataagaaaaa ggagagaaga gtatataaat
     1321 actttaccaa gagcttttaa cactcttttg ccaaatctag aagagattga acatttgaat
     1381 tggtcagaag ctttgaagtt aatggaaaag agagcagatt tccagttatg ttttgtggtg
     1441 ctagaaaaaa ctccttggga tgaaactgac catatagaca aaattaatga taggcggatt
     1501 ccatttgacc tcctgagcac tttagaagct gaaaaagtct atcagaacca tgtacagcat
     1561 ctgatatccg agaagaggag ggtggaaatg aaggaaaaat tcaaaaagac tttggaaaaa
     1621 attcaattca tttcaccagg gcagccatgg gaggaagtta tgtgctttgt tatggaggat
     1681 gaagcctaca aatatatcac tgaggctgat agcaaagagg tatatggtag gcatcagcga
     1741 gaaatagttg aaaaagccaa agaagagttt caagaaatgc tttttgagca ttctgaactt
     1801 ttttatgatt tagatcttaa tgcaacacct agttcagata aaatgagtga aattcataca
     1861 gttctgagtg aagaacctag atataaagct ttacagaaac ttgcacctga tagggaatcc
     1921 cttctactta agcatatagg atttgtttat catcccacta aagaaacatg tcttagtggc
     1981 caaaattgta cagacattaa agtggagcag ttacttgcta gtagtctttt acagttggat
     2041 catggccgct taagattata tcacgatagt accaatatag ataaagttaa cctttttatt
     2101 ttagggaagg atggccttgc ccaagaacta gcaaatgaga taaggacaca atccactgat
     2161 gatgagtatg ccttagatgg aaaaatttat gaacttgatc ttcggccggt tgatgccaaa
     2221 tcgccttact ttttgagtca gttatggact gccgccttta aaccacatgg gtgcttctgt
     2281 gtatttaatt ccattgagtc attgagtttt attggggaat ttattgggaa aataagaact
     2341 gaagcttctc agatcagaaa agataaatac atggctaatc ttccatttac attaattctg
     2401 gctaatcaga gagattccat tagtaagaat ctaccaattc tcaggcacca agggcagcag
     2461 ttggcaaaca agttgcaatg tccttttgta gatgtacctg ctggtacata tcctcgtaaa
     2521 tttaatgaaa cccaaataaa gcaagctctc agaggagtat tggaatcagt taaacacaat
     2581 ttggatgtgg tgagcccaat tcctgccaat aaggacttat cagaagctga cttgagaatt
     2641 gtcatgtgcg ccatgtgtgg agatccattt agtgtggatc ttattctttc acccttcctt
     2701 gattctcatt cttgcagtgc tgctcaagct ggacagaata attccctaat gcttgataaa
     2761 atcattggtg aaaaaaggag gcgaatacag atcacaatat tatcatacca ctcttcaatt
     2821 ggagtaagaa aagatgaact agttcatggg tatatattag tttactctgc aaaacggaaa
     2881 gcttcgatgg gaatgcttcg agcatttcta tcagaagttc aagacaccat tcctgtacag
     2941 ctggtggcag ttactgacag ccaagcagat ttttttgaaa atgaggctat caaagagtta
     3001 atgactgaag gagaacacat tgcaactgag atcactgcta aatttacagc actgtattct
     3061 ttatctcagt atcatcggca aactgaggtc tttactctgt tttttagtga tgttctagag
     3121 aaaaaaaata tgatagaaaa ttcttatttg tctgataata caagggaatc aacccatcaa
     3181 agtgaagatg tttttctacc atctcccaga gactgttttc cctataataa ctaccctgat
     3241 tcagatgatg acacagaagc accacctcct tatagtccaa ttggggatga tgtacagttg
     3301 cttccaacac ctagtgaccg ttccagatat agattagatt tggaaggaaa tgagtatcct
     3361 attcatagta ccccaaactg tcatgaccat gaacgcaacc ataaagtgcc tccacctatt
     3421 aaacctaaac cagttgtacc taagacaaat gtgaaaaaac tcgatccaaa ccttttaaaa
     3481 acaattgaag ctggtattgg taaaaatcca agaaagcaga cttcccgggt gcctttggca
     3541 catcctgaag atatggatcc ttcagataac tatgcggaac ccattgatac aattttcaaa
     3601 cagaagggct attctgatga gatttatgtt gtcccagatg atagtcaaaa tcgtattaaa
     3661 attcgaaact catttgtaaa taacacccaa ggagatgaag aaaatgggtt ttctgataga
     3721 acctcaaaaa gtcatgggga acggaggcct tcaaaataca aatataaatc taaaaccttg
     3781 tttagtaaag ccaagtcata ctatagaaga acacattcag atgccagtga tgatgaggct
     3841 ttcaccactt ctaaaacaaa aagaaaagga agacatcgtg gaagtgaaga agatccactt
     3901 ctttctcctg ttgaaacttg gaaaggtggt attgataatc ctgcaatcac ttctgaccag
     3961 gagttagatg ataagaagat gaagaagaaa acccacaaag tgaaagaaga taaaaagcag
     4021 aaaaagaaaa ctaagaactt caatccacca acacgtagaa attgggaaag taattacttt
     4081 gggatgcccc tccaggatct ggttacagct gagaagccca taccactatt tgttgagaaa
     4141 tgtgtggaat ttattgaaga tacagggtta tgtaccgaag gactctaccg tgtcagcggg
     4201 aataaaactg accaagacaa tattcaaaag cagtttgatc aagatcataa tatcaatcta
     4261 gtgtcaatgg aagtaacagt aaatgctgta gctggagccc ttaaagcttt ctttgcagat
     4321 ctgccagatc ctttaattcc atattctctt catccagaac tattggaagc agcaaaaatc
     4381 ccggataaaa cagaacgtct tcatgccttg aaagaaattg ttaagaaatt tcatcctgta
     4441 aactatgatg tattcagata cgtgataaca catctaaaca gggttagtca gcaacataaa
     4501 atcaacctaa tgacagcaga caacttatcc atctgttttt ggccaacctt gatgagacct
     4561 gattttgaaa atcgagagtt tctgtctact actaagattc atcaatctgt tgttgaaaca
     4621 ttcattcagc agtgtcagtt tttcttttac aatggagaaa ttgtagaaac gacaaacatt
     4681 gtggctcctc caccaccttc aaacccagga cagttggtgg aaccaatggt gccacttcag
     4741 ttgccgccac cattgcaacc tcagctgata caaccacaat tacaaacgga tcctcttggt
     4801 attatatgag taggaagtga ttgcaaacag gctggatttg gacaaaaagc aaatctagac
     4861 atgcatgttt cagggttcag tagtatactt catgtttcat acagataatt cacattcaaa
     4921 attacatttt ctctttgaac tagatggtat tccttattca cttacattac aaatctaaga
     4981 ccatgtgata agcatgactg gagaggttta atttttataa acaaaaatag ctataaagta
     5041 caaagctgct gctgcatgca accttattgc aatcagtata tcattcctgt ggcaatttct
     5101 gtcaccttat attgtgaata aaatttttct atagaaatta aatgatttaa aaactcacct
     5161 atatgaaaca tttaatgctt ttcagcctgc tttctggctg attttgttat ttgatgtgct
     5221 aatttgggca acttaattta cattctggca gtcggtgtag ataactaaaa gcccagttaa
     5281 gtattttata atttcaggct actgaggcca tgcttgggat gttgtttgaa agaaagaaaa
     5341 aatacacttg acatatttca catttctgta ccttcatctt tacttccaag taaacccgtg
     5401 gatgatttga tgagggataa atgaacctat ttcttttaca cacataccaa ggacatgctt
     5461 gtggctaaag tgagttgata atgttgtgca aaggatagtt gtcaccaact catttcttta
     5521 tggtccataa tgaaataaaa attttgtata ctgttaattc tgtaaacaga tgcatgttca
     5581 aaagatctat gatggtcttg taatcttaat ctaatatatt ttagatattt taattttttc
     5641 cctcttgggg aacacattta gtatagtgta gaaaatactt ccatgacatt ttcatataag
     5701 gttatataac ttttcataca taaacatgaa atttgttgta gaaaattctt taaaccaaac
     5761 atttaaatct aggacttcaa tttaatttgt tccttgaatc tatttttatg tggcccttaa
     5821 aaaatatcca aaaaacccat tgctaatata gcaataaaaa tactttgggt actgacagac
     5881 tctttggagt gtttatatta caaatttgta ttcatattct tttctgtgat gtgttgtact
     5941 aaaatccaaa atggcttttg caccattttt aagccaattt tttcctttga tgttggtacc
     6001 agaattacta taagtgactg ctgcttttgg gggtaaacat tttgttagtg aagataaaac
     6061 cagaacacta aattatggat aaaattttca gaataggtgg cacaggtaaa tttcactagg
     6121 ttatattttg tgtagtaaag aaaaaaatta tttggtcaat gttatcttaa ttcatactac
     6181 aatttaagat tatcttatgt gtattatagt aaatagatga ttttcagatt caaggctcct
     6241 aagagtttga tttgctctgt tttttcctaa aataaatatt gtctctccca actgttaagt
     6301 tctaggtatt gtacttccaa ttttaacttc agaaccaaga tgttggcatg aaccaggctg
     6361 ctgttgaagt acatgtatat tataaattat cttatttgtg ttatactctt acatgttatc
     6421 ttttctaaga aaacaaagtc cctattattc ctattgcaaa gcacacagga attaagaaag
     6481 tacagtaatt tttaaaaaaa aatccggtaa atgtagtatt cttaacctgt tctatattac
     6541 ttatacctat tgtctatata gctttaattt atagttgtca gtttaactat tggcatgtct
     6601 ggcaaagaaa attaaacttt aagagtttta taaactgttt ctaggttgct aaagaattta
     6661 tttttctact atatatggta tagacaaagc atcaaactat gtacaggaaa aaagcctgac
     6721 tatttctatt tggaagtagg ctgaaaagag aattttcaaa actgttcgtg tcttcagttc
     6781 attctgtcat aactttgcta ttgtaatatg tgaataccag tttatttaag ctgttctctt
     6841 ttatactgta ttaatttaat gttcatctgc gtttagtacc atttttgtta ttaaaactgg
     6901 catttaccgt ttttcacatt aacccacctt gcaccttccc ccaaacttat ctccactttt
     6961 ctatgcattc tatcattgat ttgacacact tcatagtgag tcatttaaat actctacgtt
     7021 tggttcaatt aaccagtagg ttacagttat tgaaaattaa agtacagttt aaagctcagt
     7081 ctgttacact gaattgattg tgtttgtttt tgccaagggt ttagatatgc ttttaaatat
     7141 tagaaacatc taagaacaga ataacataat taaacttttt tctggtaagt tactggaagg
     7201 tttcactgtt tagggaccta tcatatgaga cttcttaaag gattaaaaga ataggatagt
     7261 ctcataattg tgagtaaaca tcaaggcatt atattttaca atactgaata aaatttcatc
     7321 tacacacatg ttgccattgt ttcatttaag gttcagtgct tatagttaac tacaatattg
     7381 gacctaacag gatctagatt agcaatataa agaagcatag tggtactctg tttcacactt
     7441 tcagtagatt tattagaagt caaattctat tcaacagaca cttattagga tatacaacta
     7501 atttaagaat aaaattccag gcacaatata ttttttttaa atggtatttg ttagtagtgc
     7561 ttcttcccct taacatttac agtgtaaata ctgcaggtaa ccgcaatcta agttagccaa
     7621 aaagcagctt tttttcccat actgtatgta aataatgtag acctgggttt ttttgtttat
     7681 ttgggtttgt tttttttttt gaggtactgg aatctaatta atatctctta ggtatcaaca
     7741 aaagggaaca attggaatga gaatttaggc cttagcttcc atggtgattt ttagtttttt
     7801 atacagtaat aattgtgatg ctatttgtca actggatata aatacacata taattttaaa
     7861 aagtcaaaag tgcttttgtt tctttgttta atgtaatttt tgtgcttcac ctacaggatg
     7921 ctgcagtaaa ttaaatatca gtgaagcttc tgatgtataa agaatgctat gaataaaaca
     7981 ttaagaagct gtgtaatttt aagttatagt tgcctctatt tttaccattt cattggtaaa
     8041 aattagctaa tttttttcaa gtgaaatgaa aaataaaaat ataaatttat caatatgatg
     8101 gaaatcttat taaggagatg tattattgaa ttttcactgt acctgaaaag gagattcaaa
     8161 attttttctg gggatgtata taggtgaaaa tttgattttt taaattatca ggaaaacaag
     8221 ataatgcaca gatttctaag actaagatct tacctggatg tgatttttga gctgtggcta
     8281 gacattcttt agagccactg gaaatatttt gaaaactatt ctagttatag cagagctgct
     8341 aatattaacg aatatatttg tgtcttcatg gtttgtgact attaggccaa attttgtggt
     8401 atatgttgtc agtctggatc tggtgaggtc tgttcaacat gaatctttgt gttatcttga
     8461 atttagtagt ttcaaggtac ttaaattctt aacagtttct aatttgtttc aatacatatg
     8521 ggacatggtt gattttttta ctgtattaga actcttggaa gttcttagcc ttttcaggtt
     8581 atgaaatacc tgaaagtaaa attttctaag atttaataag ggaagatact attcaaatca
     8641 ttttcttagg atagcatctt tacatacaat gagaggattg tacaagcatt aatctcatat
     8701 tccaacatcc agttacttga tgtgatccaa gtaccctggt ctttttgaag cagttaaaat
     8761 ctaattaatt aactttggga gtcttcacta ttcaattgat cctcatcatt gtcctatttg
     8821 catgactcca ttttttcctc cactatatga gttttctttg tcagggggag aggagtggga
     8881 agagtcacag aatctcatat tcacatctta attaaattgt gtgaaattag tcttttgtgg
     8941 aaattctgta ggcagtatga ttttgaaaag ctaaccaatg ataattagca ttttagttaa
     9001 tactaaatgc ataaaattat aacccttgaa attaatttgg tgctggcagt tctggtttag
     9061 tcatttttac cagtagttag tagtattaag acctgcagta tatgcacttt ttgagtagct
     9121 gtcaaataat tgtagttgag aaacaacttg tttattctca caattcagat tttctattca
     9181 gttttgtctc aaatagtaag ttattgtgaa caatttaata acggccctcc tgttctagtt
     9241 tgcctaatat tttagttaag atttagtgtt ttaacctatt tttttaagtt tattttttgt
     9301 attagatttt atttgaataa gttatgtggg tttagtaatt gacctattta ttcattgctt
     9361 cactaattca tccagattag ttttaagtgt gtatatgtat ttgctcacca gatcattttc
     9421 ttgggacctt gaactgtgaa tgttttgtcc taaccattta atattttcta ggtacttgct
     9481 gcaagttctt gaactatttt accagcttta actttggggc tcttagtttc ttttctccag
     9541 attcttgtta ttttatttta tccaaataaa tatttaggtg ttctaagaa
//
LOCUS       NM_001030059            3458 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens phospholipid phosphatase 4 (PLPP4), transcript variant
            1, mRNA.
ACCESSION   NM_001030059
VERSION     NM_001030059.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3458)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3458)
  AUTHORS   Yang H, Hong D, Cho SY, Park YS, Ko WR, Kim JH, Hur H, Lee J, Kim
            SJ, Kwon SY, Lee JH, Park DY, Song KS, Chang H, Ryu MH, Cho KS, Kang
            JW, Kook MC, Thiessen N, He A, Mungall A, Han SU and Kim HK.
  TITLE     RhoGAP domain-containing fusions and PPAPDC1A fusions are recurrent
            and prognostic in diffuse gastric cancer
  JOURNAL   Nat Commun 9 (1), 4439 (2018)
   PUBMED   30361512
  REMARK    GeneRIF: PPAPDC1A fusions and in-frame fusions containing a RhoGAP
            domain clearly define the aggressive subset (7.5%) of diffuse
            gastric cancer. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3458)
  AUTHORS   Zhang X, Zhang L, Lin B, Chai X, Li R, Liao Y, Deng X, Liu Q, Yang
            W, Cai Y, Zhou W, Lin Z, Huang W, Zhong M, Lei F, Wu J, Yu S, Li X,
            Li S, Li Y, Zeng J, Long W, Ren D and Huang Y.
  TITLE     Phospholipid Phosphatase 4 promotes proliferation and tumorigenesis,
            and activates Ca2+-permeable Cationic Channel in lung carcinoma
            cells
  JOURNAL   Mol Cancer 16 (1), 147 (2017)
   PUBMED   28851360
  REMARK    GeneRIF: Studied the clinical significance and biological roles of
            PLPP4 in lung carcinoma. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3458)
  AUTHORS   Sherva R, Tripodis Y, Bennett DA, Chibnik LB, Crane PK, de Jager PL,
            Farrer LA, Saykin AJ, Shulman JM, Naj A and Green RC.
  CONSRTM   GENAROAD Consortium; Alzheimer's Disease Neuroimaging Initiative;
            Alzheimer's Disease Genetics Consortium
  TITLE     Genome-wide association study of the rate of cognitive decline in
            Alzheimer's disease
  JOURNAL   Alzheimers Dement 10 (1), 45-52 (2014)
   PUBMED   23535033
REFERENCE   5  (bases 1 to 3458)
  AUTHORS   Takeuchi M, Harigai M, Momohara S, Ball E, Abe J, Furuichi K and
            Kamatani N.
  TITLE     Cloning and characterization of DPPL1 and DPPL2, representatives of
            a novel type of mammalian phosphatidate phosphatase
  JOURNAL   Gene 399 (2), 174-180 (2007)
   PUBMED   17590538
  REMARK    GeneRIF: DPPL1 and DPPL2 represent a novel type of mammalian
            phosphatidate phosphatase.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.181555.1,
            SRR1660803.225056.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000398250.6/ ENSP00000381302.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DR000933.1, BC132787.1, HY340365.1 and AC023282.8.
            On Jan 2, 2020 this sequence version replaced NM_001030059.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3458
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.12"
     gene            1..3458
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="phospholipid phosphatase 4"
                     /db_xref="GeneID:196051"
                     /db_xref="HGNC:HGNC:23531"
     misc_feature    50..52
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="upstream in-frame stop codon"
     CDS             80..895
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /EC_number="3.1.3.4"
                     /EC_number="3.6.1.75"
                     /note="isoform a is encoded by transcript variant 1;
                     diacylglycerol pyrophosphate like 2; phosphatidate
                     phosphatase PPAPDC1A; phosphatidic acid phosphatase type 2
                     domain-containing protein 1A; phosphatidic acid phosphatase
                     type 2 domain containing 1A; diacylglycerol pyrophosphate
                     phosphatase-like 2"
                     /codon_start=1
                     /product="phospholipid phosphatase 4 isoform a"
                     /protein_id="NP_001025230.1"
                     /db_xref="CCDS:CCDS41573.1"
                     /db_xref="GeneID:196051"
                     /db_xref="HGNC:HGNC:23531"
                     /translation="MRELAIEIGVRALLFGVFVFTEFLDPFQRVIQPEEIWLYKNPLVQ
                     SDNIPTRLMFAISFLTPLAVICVVKIIRRTDKTEIKEAFLAVSLALALNGVCTNTIKLI
                     VGRPRPDFFYRCFPDGVMNSEMHCTGDPDLVSEGRKSFPSIHSSFAFSGLGFTTFYLAG
                     KLHCFTESGRGKSWRLCAAILPLYCAMMIALSRMCDYKHHWQDSFVGGVIGLIFAYICY
                     RQHYPPLANTACHKPYVSLRVPASLKKEERPTADSAPSLPLEGITEGPV"
     misc_feature    89..151
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VZY2.2);
                     transmembrane region"
     misc_feature    224..286
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VZY2.2);
                     transmembrane region"
     misc_feature    329..391
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VZY2.2);
                     transmembrane region"
     misc_feature    383..409
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VZY2.2);
                     Region: Phosphatase sequence motif I.
                     /evidence=ECO:0000269|PubMed:17590538"
     misc_feature    503..565
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VZY2.2);
                     transmembrane region"
     misc_feature    506..517
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VZY2.2);
                     Region: Phosphatase sequence motif II.
                     /evidence=ECO:0000269|PubMed:17590538"
     misc_feature    614..676
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VZY2.2);
                     transmembrane region"
     misc_feature    662..694
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VZY2.2);
                     Region: Phosphatase sequence motif III.
                     /evidence=ECO:0000269|PubMed:17590538"
     misc_feature    683..745
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VZY2.2);
                     transmembrane region"
     misc_feature    695..697
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="Stabilizes the active site histidine for
                     nucleophilic attack.
                     /evidence=ECO:0000250|UniProtKB:O34349; propagated from
                     UniProtKB/Swiss-Prot (Q5VZY2.2); other site"
     misc_feature    827..892
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VZY2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1221..1226
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="hexamer: AATAAA"
     polyA_site      1257
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="major polyA site"
     polyA_site      1270
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
     regulatory      1474..1479
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="hexamer: AATAAA"
     polyA_site      1492
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
     regulatory      3103..3108
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="hexamer: AATAAA"
     polyA_site      3127
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
     regulatory      3416..3421
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="hexamer: AATATA"
     regulatory      3438..3443
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
                     /note="hexamer: ATTAAA"
     polyA_site      3443
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
     polyA_site      3458
                     /gene="PLPP4"
                     /gene_synonym="DPPL2; PPAPDC1; PPAPDC1A"
ORIGIN
        1 ctggcgagcc ggcgccggcc gagctgcggg agccgcggag agcaccagct gacgccgcgg
       61 gagctgctcc ggccgcacca tgcgggagct ggccattgag atcggggtgc gagccctgct
      121 cttcggagtc ttcgttttta cagagttttt ggatccgttc cagagagtca tccagccaga
      181 agagatctgg ctctataaaa atcctttggt gcaatcagat aacataccta cccgcctcat
      241 gtttgcaatt tctttcctca cacccctggc tgttatttgt gtggtgaaaa ttatccggcg
      301 aacagacaag actgaaatta aggaagcctt cttagcggtg tccttggctc ttgctttgaa
      361 tggagtctgc acaaacacta ttaaattaat agtgggaaga cctcgccccg atttctttta
      421 ccgctgcttt ccagatggag tgatgaactc ggaaatgcat tgcacaggtg accccgatct
      481 ggtgtccgag ggccgcaaaa gcttccccag catccattcc tcctttgcct tttcgggcct
      541 tggcttcacg acgttctact tggcgggcaa gctgcactgc ttcaccgaga gtgggcgggg
      601 aaagagctgg cggctctgtg ctgccatcct gcccttgtac tgcgccatga tgattgccct
      661 gtcccgcatg tgcgactaca agcatcactg gcaagattcc tttgtgggtg gagtcatcgg
      721 cctcattttt gcatacattt gctacagaca gcactatcct cctctggcca acacagcttg
      781 ccataaaccc tacgttagtc tgcgagtccc agcctcactg aagaaagagg agaggcccac
      841 agctgacagc gcacccagct tgcctctgga ggggatcacc gaaggcccgg tatgaccagt
      901 gtcctgggag gatggacact aagccctggg cacatctgcc accctgacat cataacacaa
      961 tagaaatggt tttctgtagt gtatttttca tcagttgttt ctcaaagtca tcgtacttct
     1021 gcttctgttt cactgatggt gttcctgcta ctttaaatgt ctacttccaa catccttgaa
     1081 tttgcaagtg aaggacaaca atctctgaga gacgtgtgga agaggctgtg aaggtggggt
     1141 ttggggagct tggccgattc gtctatctga aatgtttgct gtaacagcca ccttcctatg
     1201 ttttcatggt tgtaaaacat aataaaacct cccacgtgga agacttggtg ttggccaccc
     1261 agcgcaacaa gtcatttgga gatgcagcag gtttctcaga gacccaaagc cagctctgtc
     1321 tgtaggtcat tccaggtgct gagcttggaa gcaaaggctc agaacctttc tgagccatca
     1381 gcttctcata gcccacgtct ctaaaataga tttgaaactt ggagtgacag cttgagcatt
     1441 tccagggctt ttgaatcatt gaatctggaa gcaaataaaa ttaataactt catgcacaga
     1501 cttccaccaa acacaatgag catgaagatg catgagtgca tgtgtggggg atgaggtcac
     1561 agcagttgcc tgagggttca tgggcacaat atccttccca tcttccagtc taagtttatg
     1621 gagccacttc tgtagctctg cctcatacag tgaatttttg gggcacgggg gctttacttg
     1681 gctcttctgc aagaagtgat gtgaccgatc tcacagatca gaaaccgcat gcctggggct
     1741 catctcaagg gagtggctga gtggccattg gggataagaa gcaacttcag gctgagaatt
     1801 tttccccttt aggatctgag ttttgcagag ctctgctcta aggattctcc aagtggtggt
     1861 gtgttcctgt tcctatctag ctggcaatat ttcagcatga taggactctg gtagaaggta
     1921 caagaacaga atcaggaatg tgctgtgtct ctcgctcagc tctttgcatt gttgaataca
     1981 gccagtcaat atgaaccttt ttcagtctga gtatagagca cgctgctcct tggccagcta
     2041 gttttttcaa ggcaaggagc atccccttca tccaattctg attggatgta ccatgtggtt
     2101 gttcagattc ctgggcctgg gtgctacgag gtgatgcatc tttgctatcc agagtgtcac
     2161 tttttttttt ttttttttga gatggagtct cgctgtgtcg agactgcact ggagtgcagt
     2221 ggcgtgatct tggctcactg caacctttgc ctctgggttc aagctattct cgtgcctcag
     2281 cctcccaagt agctaggact acaggtgccc gccaccacac ctggctaatt tttgtatttt
     2341 tagtagacac ggggtttcac cacgttggcc aggctggtct cggactccta gcctcaagtg
     2401 atctgcccac ctcggcctcc caaagtgctg ggattataag cgtgagccac tgcacctggc
     2461 caagagtgtt gcttttgggc agttagcata acagactgca ttttgagaga ctcaggtggc
     2521 tgcctaaatg gtcagcttat cagccctggg ctgcgtgtgc aagttagaag catcagaata
     2581 tctttgatca gccatttctg ttaagctcca tgggcttaag cttggagtgc atgtaccact
     2641 gactatgctc catgagcccc agtgcagccc tctccagccc tggtccttcc aaactggctt
     2701 tggcacggtc atgtgattgt cccctggatg gagtgggaga gggggaggct tgaattgact
     2761 ttcatccaaa gtcaagccat tgatttttta aaaattatag cagttacatt ggcaagcaac
     2821 tttgaagatg aatgtgagat attttaagag ataaatcata gcaattgaaa agacataatt
     2881 ttaaattctg agctaaaatt catttaaaat tagaaaatta aacaatactc taatttaact
     2941 aaaaactcta taattttcaa aaataaagcc caaaatagaa atgtaggaaa aagatccttt
     3001 gctactgtta aaaaaaaaaa ccccatcctg atgtggccca cattcttatt tgattctagt
     3061 tttatctgag caagaggaaa ggaaaagggt tgtacttcag ttaataaaga cttaaaattc
     3121 tggaccatca agtgtaaatt taatataaat aattttattt aaagataaat ggccaggaag
     3181 tactctgcaa agtaacaaca gagtattact aatgctgata attacatgga aaatcctaat
     3241 actggccatg taaaagcttt gattaaaata taattcaaat tacagatgat gtaataacat
     3301 gaagctggtg gtaggatcct caggagccat aatgaacagt gtaagccagt tcacaaaagg
     3361 caggcatttt tacagatcct tatgtttcaa tttcatgctc tattcacgtg aagtaaatat
     3421 aacatcacag tgtaccaatt aaatggccat aatgagaa
//
LOCUS       NM_001030060            6326 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens sterile alpha motif domain containing 5 (SAMD5), mRNA.
ACCESSION   NM_001030060
VERSION     NM_001030060.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6326)
  AUTHORS   Yagai T, Matsui S, Harada K, Inagaki FF, Saijou E, Miura Y, Nakanuma
            Y, Miyajima A and Tanaka M.
  TITLE     Expression and localization of sterile alpha motif domain containing
            5 is associated with cell type and malignancy of biliary tree
  JOURNAL   PLoS One 12 (4), e0175355 (2017)
   PUBMED   28388653
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6326)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   3  (bases 1 to 6326)
  AUTHORS   Fellay J, Ge D, Shianna KV, Colombo S, Ledergerber B, Cirulli ET,
            Urban TJ, Zhang K, Gumbs CE, Smith JP, Castagna A, Cozzi-Lepri A, De
            Luca A, Easterbrook P, Gunthard HF, Mallal S, Mussini C, Dalmau J,
            Martinez-Picado J, Miro JM, Obel N, Wolinsky SM, Martinson JJ,
            Detels R, Margolick JB, Jacobson LP, Descombes P, Antonarakis SE,
            Beckmann JS, O'Brien SJ, Letvin NL, McMichael AJ, Haynes BF,
            Carrington M, Feng S, Telenti A and Goldstein DB.
  CONSRTM   NIAID Center for HIV/AIDS Vaccine Immunology (CHAVI)
  TITLE     Common genetic variation and the control of HIV-1 in humans
  JOURNAL   PLoS Genet 5 (12), e1000791 (2009)
   PUBMED   20041166
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX642679.1, BX642659.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367474.2/ ENSP00000356444.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL354880.12, CB988162.1, BX642659.1 and AL034350.2.
            On Nov 22, 2018 this sequence version replaced NM_001030060.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6326
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q24.3"
     gene            1..6326
                     /gene="SAMD5"
                     /gene_synonym="dJ875H10.1"
                     /note="sterile alpha motif domain containing 5"
                     /db_xref="GeneID:389432"
                     /db_xref="HGNC:HGNC:21180"
                     /db_xref="MIM:620517"
     CDS             240..761
                     /gene="SAMD5"
                     /gene_synonym="dJ875H10.1"
                     /note="SAM domain containing 1; SAM domain-containing
                     protein 5"
                     /codon_start=1
                     /product="sterile alpha motif domain-containing protein 5"
                     /protein_id="NP_001025231.1"
                     /db_xref="CCDS:CCDS34548.1"
                     /db_xref="GeneID:389432"
                     /db_xref="HGNC:HGNC:21180"
                     /db_xref="MIM:620517"
                     /translation="MCTNIVYEWLKALQLPQYAESFVDNGYDDLEVCKQIGDPDLDAIG
                     VLAPAHRRRILEAVRRLREQDANAAGLYFTLEPQPAPPGPPADAVPTGRRGEPCGGPAQ
                     GTRGDSRGHTTAPRSRELVSYPKLKLKIMIRDKLVRDGIHLSKPPYSRKVPMAGILEYL
                     MNWPKSSQSR"
     misc_feature    462..596
                     /gene="SAMD5"
                     /gene_synonym="dJ875H10.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TGI4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      6302..6307
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAMD5"
                     /gene_synonym="dJ875H10.1"
                     /note="hexamer: AATAAA"
     polyA_site      6326
                     /gene="SAMD5"
                     /gene_synonym="dJ875H10.1"
                     /note="major polyA site"
ORIGIN
        1 agtgcctgcg agctccgctg ctgcttgggg aattcacttt gctgcttgtt cgcttctccc
       61 ttcctcaggc ttcttctgat ggttttccgt ctcctgcccg agcctttcct ttaaaaggaa
      121 aactttactg cgataccctt ttccccttgg aggagaggat taaaagttcc aagaactggt
      181 gccgcccgtg ccatttgggc gctgggaagg tgctcggcgg cggggttccc ggtcccacca
      241 tgtgcaccaa catagtttac gagtggctca aagcgctgca gcttccgcag tacgcggagt
      301 ccttcgtgga taacggctac gatgacctgg aggtgtgcaa gcagatcggg gacccggacc
      361 tggatgccat cggggtgctg gcgcccgcgc accgccgccg tatcctggag gccgtgcgcc
      421 ggctgcggga gcaggacgcc aacgccgccg gcctctactt cacgcttgag ccgcagccgg
      481 cgccccccgg gccgcccgcc gacgccgtcc ccaccggccg ccggggggag ccgtgcggcg
      541 gcccggccca gggcacccgc ggggactctc gcggccacac gaccgccccc cgcagcaggg
      601 agctggtgag ctaccccaaa ctgaagctga agatcatgat cagggataag ctcgtccgtg
      661 acggcatcca cctgagcaag cccccgtact cccgcaaggt cccaatggct ggcatcctag
      721 agtacttaat gaattggccg aagtcatcac agagccgcta gatatcattt ttgagacctc
      781 gtggaggact gatgaggtgc ctgaagactg gaaaagggca tatttagaac cttctttcaa
      841 aaagggaaat ggatgatgac cctggaaata ctcatcagct taactttttg cttggacaaa
      901 ttctggaata atcaacttag taaactgggt aactggctta taacagctag aaataaggca
      961 gtgaactatc acgcataaag aagtattgag ttcatttttt taagaagata tcatgatgag
     1021 atacagtctt atgcatttct tggcattctc ccttccattc ttaatgaaaa cagatgaggt
     1081 tggctaaggc atttgagtca taacttagtt taagtacaat ataacaaaaa ggtagatttc
     1141 tgacagtaag tagtaattat attatttcca aatttgcttt taacttgaga acagtagctt
     1201 taatttttat attcaagcat acattctact tcatttcata taggaccatg tttttataag
     1261 ataagataca taattctatg tagaatagtt tggtgaagga attcttattt taaggtgctt
     1321 ttatatagtt attttgtata ttggtacaat gttaaaggtg atgaattaag gaacatcacc
     1381 aagagaggac aatttcttct aacttctctt tttaaattta atctggctga ggtttagtat
     1441 taggactaat acaagtgtct tgctctgaca tgcatcaagc aagagctagc tattttactt
     1501 catagctagt ttcttgcact ctgtggagac tgccagggcc gcagctcaca gcctgttctg
     1561 agctgcagtg ctttatccca ccttgctctc caggcttctg acttcaggcc tgtgggggcc
     1621 gggaggtggg cagcggcagt ggcctgagga gccctgtaga actacggctg aaaaagaaag
     1681 tagattgagg tggggggagg aaattaacag gaatctagag tttttctaat tcttatcgtc
     1741 ttatcgttct tgtgtttgga tgctggtagt tttttttttt ttagacagag tctcgctctg
     1801 tcacccaggc tggagtgtag tggcacaatc ttggctcaca gtgactttcg cctcccaggt
     1861 tcaaggaatt ctcctgcctc ggcctcttgg tagctgggat tacaggcacg catcaccaca
     1921 cccagctaat ttttttgtat ttttagtaga gatggggttt taccatgttg gccaggctgt
     1981 tcttgaactc ctggcctcaa atgatccact cgccgtggcc tccagtagcg ctgggattac
     2041 aggcgtgagc catcacaccc ggcctggatg ctggtagttt tattttctgc ttagaaaacg
     2101 caaccatgtt gatgggacca aaaacttagt tgaaagaagc catggcaaaa gatgttgacg
     2161 tacaactggc tcctgaggct gtcaattgtt tagagctccc aagtagtact gcattacgga
     2221 atctactact tagaagaatg tacaagatgt aagttcccat cggcaccgtc atggtaagaa
     2281 gaataagaaa ctctcaaagg aaaagaaact tacattcact ttttcctggt ccattttggt
     2341 tcctaagaat agataggcca ttaagaagga tattaggttt ctaaggacaa ttttaacaca
     2401 atactgcttt aaaaatctga agtttaaata gtttagctat ttctgtaggt taattcaggc
     2461 actgactaaa atcagtctca ttatcatata caaatgtaag gaagttaaat tttaaaagca
     2521 tgtataggtt gtccttaaat tatacaaaag cttttagttt catcaggatt atattccagt
     2581 taacctttca tctttttttt ttttccaaat gaactagggt ctttaaaatt cctaagtaga
     2641 ttcttttgag tggtagggga gtctgtatag attacagata taatttattg tgataacaaa
     2701 tggcttcctg tttgacctca tttccaggtg tcgcatccgt ggctgattta tttcacagat
     2761 gtacatttgc atgtacttgt tgaactttgc taggaaggac tcaatttttg aaaaatctgt
     2821 tattttcact gtgggcctta tgaggcaatc tactgcaatg gaaaaagggt tccttggtca
     2881 tttcaagttt tattttctat tagagtaata tctaacttca attattttgc caggtttaaa
     2941 ccttctctct gtgtctgtgg ttagaatttg aaaataacaa tgctctgctt aaagtaagag
     3001 tcacagtcag caaaaaaagc caatggattt taaaaagaca tcttagttaa agctagagga
     3061 agaaaacttc aaataagcaa agaagtattg aaggatgccc acgaattcct ttgcattaaa
     3121 atcaagatga ggtaagaggt agaatataag agaaagggat tatttttacc atgaattgta
     3181 tctggggaca gttagtctta gaaggagtaa ttttttcagc gtttttcctc tgtatctaaa
     3241 caccaataat atacttaatt tttgaatata aaagaagtag caattgacta agaataaata
     3301 tgttataaaa actaggggat tatcttgatt tacatttcct agagtattaa aagagattaa
     3361 ttacagactt tcacttgata atattgagga gtctggaggg tcatagcaaa attttcttta
     3421 gttcatctta aaatttaggg aggtaaaaaa agattttatt cacataaaag atttcttggc
     3481 atagggaagg cgtaatgtta agggcttctt ccttacccaa gtgggagctg aaccagtaat
     3541 tgtggggaaa actgaattta tagcaacaaa ggatagtagt ttctcaactg ggagcatacg
     3601 agcaatttct cagttcagag atatttatag catcttggtg ttatgcaata aacaatgaca
     3661 acaacaagca ttgagctttc actttggagt tactcagatc tgagtttaaa ttctaaaatt
     3721 attctagtag tattttcctg cggtgaatct gttaaggatg taagctatag tgtagcttgg
     3781 ggaatcatct tgaacagtta tgaaactcat taaagcttct tttcccttgt ctgtaaaatg
     3841 ggaaaaataa atacctctat agctcttaag aggcttaaga gttctatggc ttacacccac
     3901 atacagtcct tggctcagtg ctaggcatgt agcaggtgct gactgcctct ctcccttccc
     3961 ttctttactc tcagttgtct tatttcttct tatgcagaag agattacctt aaagctgact
     4021 agaaaactca gacataaatt gacatttcct tatcattgcc tgaaacccac tgaataagtc
     4081 ccctttgatt tctctcagga aggataaaaa aggctacagt acctgctcat aggagttcag
     4141 taaatgttta ttgattgaat gaaaagaatt tgatttaagg aaacaataac actccatcct
     4201 gggcaacaga gcaagatccc gtctcaaaac aaaacaaaac aaaacaaaac agcaaattca
     4261 taaaggccag cagttttcaa gtctggggaa ataggcacat ggacagatta tatgaaggta
     4321 tttcattagc tttcttctct ttatggcagc ttcagattga tgaatttgag gtacaaatga
     4381 gtgagtgaca tatgtatatt ttcctctgat tttatgactg atttacaaat taggagtgca
     4441 aatgggctgt tccccgatag catcttctgg gaagaatcca accaagatac aaagcagatg
     4501 atggtggatc ggcaaactct tttctatgaa aagaaaaacc agatatacca gggactggaa
     4561 agcacctgct tgaaaattga tatgagcatg tctgaatttt tcccttataa gagcctgagt
     4621 attgtaacag gtctcttgca cagggggttg aaaaataaaa aaagaagtta acataattaa
     4681 aatgcttgga caaaacattt gctttatata gattcttaca agtaatattt gattaggtat
     4741 caaaataggt ttaggcaggt ggaagttctg aatttcaagg caaataaggc atgaagggtg
     4801 gaacattgca tctagggaaa ataagagaaa taagtgaaag tctgacccta cattgccaat
     4861 tctcagacca agtacaaagt attaggaatt ttttatatca gctgacatct tgtgcttaca
     4921 gtaaagccat atagatgcac acatagtgac tttattaaat caaatgagtt gtgcagagca
     4981 gagcaaatct attaggcttt ctcttttaga gttttctaat tttactctta ttagctccct
     5041 cagttgtcat caattacata ttcctacatc agatatttta cactatcaga ttctttgatt
     5101 aaaaaatcat cttcagcttt acattattaa tctctgagga cataaaatca aataactttc
     5161 tagtccatga tcattaatcc ctactatttt agatatttcc ataaaaggct taaagggaaa
     5221 aaaaaatggt aggtagttca gaaaaaaatg gctgggcacg gtggctcacg cctgtaatcc
     5281 cagcactttg ggaggccggg gtgggcagat catttgaggt caggagtttg agaccagcct
     5341 ggccaacatg gtgaaaccct gtgtctacta aaaatacaaa aaaaattagc tgagtgtggt
     5401 ggtgtgcgcc tgtaatccca gctactaagg caggagaatg gcttgaaccc aggaggtgga
     5461 ggtcgcagtg agctgagatc gcgccagtgc gctccagcct gggcaacaga gtgagactct
     5521 gtctaaaaaa aaaaaaaaaa gaaaagaaaa aagaaaaatt gaagaacata acttttctac
     5581 ttatgaaata gataattttt taaaattgtt taaactcctg gaaattaagt gttatttttt
     5641 attactgcag ttgagagata ccttttcaga ggaaaacaag aggctaaatt ccatgttaag
     5701 agctaagtag tatttttttc ttaacaattt tgccaaaatt tcttctactg gaccaaaagg
     5761 aaataaatct acaataaatc tactttctaa atattattta agatgggaaa tgtcttttat
     5821 aggtatattc tgtataatac ccttaattag atgaattatc ccttatcatt ccaaaaatga
     5881 aatgctgtgt taaatatctc cagggcaaag tggtatgttg actgggacaa acgttagaaa
     5941 ttgtattgtt cattgcactt gttgccctgt tccccaagct tgtcaatgtt tagagatact
     6001 attcgggttg ctaaagccat tattcataga aaatttctgc ccctacagaa gtgtgtgcat
     6061 gggccttgga aaatctacat gtgtatatct gagtagcgaa gcacagattc actctaattg
     6121 aaagcagcag tttggttttg taaatgtaat tgcaattgac actttctttt ccctttcagt
     6181 tattattttt tttaaaggac gttatgagaa ggcactatga aaagcctaat tggaatagca
     6241 ttatgaacca tgtaatgcat gcccatgcac actgtgattt gcaaacatat gtccgctctt
     6301 caataaatgt tacggctttc acagcg
//
LOCUS       NM_001031               1330 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S28 (RPS28), mRNA.
ACCESSION   NM_001031
VERSION     NM_001031.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1330)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   2  (bases 1 to 1330)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1330)
  AUTHORS   Wei J, Kishton RJ, Angel M, Conn CS, Dalla-Venezia N, Marcel V,
            Vincent A, Catez F, Ferre S, Ayadi L, Marchand V, Dersh D, Gibbs JS,
            Ivanov IP, Fridlyand N, Coute Y, Diaz JJ, Qian SB, Staudt LM,
            Restifo NP and Yewdell JW.
  TITLE     Ribosomal Proteins Regulate MHC Class I Peptide Generation for
            Immunosurveillance
  JOURNAL   Mol Cell 73 (6), 1162-1173 (2019)
   PUBMED   30712990
  REMARK    GeneRIF: 40S ribosomal protein S28 (RPS28) knockdown increases total
            peptide supply in uninfected cells by increasing DRiP synthesis from
            non-canonical translation of 'untranslated' regions and non-AUG
            start codons and sensitizes tumor cells for T cell targeting.
REFERENCE   4  (bases 1 to 1330)
  AUTHORS   Behrmann E, Loerke J, Budkevich TV, Yamamoto K, Schmidt A, Penczek
            PA, Vos MR, Burger J, Mielke T, Scheerer P and Spahn CM.
  TITLE     Structural snapshots of actively translating human ribosomes
  JOURNAL   Cell 161 (4), 845-857 (2015)
   PUBMED   25957688
REFERENCE   5  (bases 1 to 1330)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   6  (bases 1 to 1330)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   7  (bases 1 to 1330)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   8  (bases 1 to 1330)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 1330)
  AUTHORS   Hori N, Murakawa K, Matoba R, Fukushima A, Okubo K and Matsubara K.
  TITLE     A cDNA sequence of human ribosomal protein, homologue of yeast S28
  JOURNAL   Nucleic Acids Res 21 (18), 4394 (1993)
   PUBMED   8415000
REFERENCE   10  (bases 1 to 1330)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301769
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.13077.1,
            SRR5189652.21846.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000600659.3/ ENSP00000472469.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AC010323.8, BC070217.1 and BC021239.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001031.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S28E family of ribosomal proteins. It is located in the
            cytoplasm. As is typical for genes encoding ribosomal proteins,
            there are multiple processed pseudogenes of this gene dispersed
            through the genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1330
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..1330
                     /gene="RPS28"
                     /gene_synonym="DBA15; eS28; S28"
                     /note="ribosomal protein S28"
                     /db_xref="GeneID:6234"
                     /db_xref="HGNC:HGNC:10418"
                     /db_xref="MIM:603685"
     misc_feature    5
                     /gene="RPS28"
                     /gene_synonym="DBA15; eS28; S28"
                     /note="predominant transcription initiation site"
     CDS             36..245
                     /gene="RPS28"
                     /gene_synonym="DBA15; eS28; S28"
                     /note="40S ribosomal protein S28"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS28"
                     /protein_id="NP_001022.1"
                     /db_xref="CCDS:CCDS45953.1"
                     /db_xref="GeneID:6234"
                     /db_xref="HGNC:HGNC:10418"
                     /db_xref="MIM:603685"
                     /translation="MDTSRVQPIKLARVTKVLGRTGSQGQCTQVRVEFMDDTSRSIIRN
                     VKGPVREGDVLTLLESEREARRLR"
     misc_feature    36..38
                     /gene="RPS28"
                     /gene_synonym="DBA15; eS28; S28"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000250|UniProtKB:P62859; propagated from
                     UniProtKB/Swiss-Prot (P62857.1); acetylation site"
     misc_feature    156..158
                     /gene="RPS28"
                     /gene_synonym="DBA15; eS28; S28"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P62857.1); phosphorylation site"
     regulatory      361..366
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS28"
                     /gene_synonym="DBA15; eS28; S28"
                     /note="hexamer: AATAAA"
     polyA_site      386
                     /gene="RPS28"
                     /gene_synonym="DBA15; eS28; S28"
                     /note="major polyA site"
     polyA_site      412
                     /gene="RPS28"
                     /gene_synonym="DBA15; eS28; S28"
     regulatory      1296..1301
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS28"
                     /gene_synonym="DBA15; eS28; S28"
                     /note="hexamer: AATAAA"
     polyA_site      1330
                     /gene="RPS28"
                     /gene_synonym="DBA15; eS28; S28"
ORIGIN
        1 actcctctcc gccagaccgc cgccgcgccg ccatcatgga caccagccgt gtgcagccta
       61 tcaagctggc cagggtcacc aaggtcctgg gcaggaccgg ttctcaggga cagtgcacgc
      121 aggtgcgcgt ggaattcatg gacgacacga gccgatccat catccgcaat gtaaaaggcc
      181 ccgtgcgcga gggcgacgtg ctcacccttt tggagtcaga gcgagaagcc cggaggttgc
      241 gctgagcttg gctgctcgct gggtcttgga tgtcgggttc gaccacttgg ccgatgggaa
      301 tggtctgtca cagtctgctc cttttttttg tccgccacac gtaactgaga tgctccttta
      361 aataaagcgt ttgtgtttca agttaactca ggttcttgtc tgggttatac gactagggtt
      421 tctccaggtt tcttgagtgg ctcccaggcg gtcaccgatc ctccgcactc tggaaatcct
      481 ggccgtgcgg tcttgccaaa cgaagctttt cctttttgag gcggggggtc gtgtttgtcg
      541 attgcaccct ctaccccaaa caaaacacaa gcgtagtagg aatgttttat tagcaaagaa
      601 gtttcagaga gtgggtggat cagggctcta tcacttggtc cccacctcac cttggtgggg
      661 ccagagtgag ccccttcctg ccacagtcac cccaactgaa attgcctttc tcttcggcca
      721 gtgttagcct ctgagcaggg gaccctggac ccttctgtgc gccaaaggct gaggtgactg
      781 acgaggagat ctccccacag ctaggtgtag tgagccagac gaggcagctt actgaacctg
      841 ggggttctct ccattgtcac cgcattctcc ttcaccaggt gtggctgtct gggagccagg
      901 gggtgactcg ctctggagag aggggaaaag aggggggcct gctgcaatct ccttgaggca
      961 ggaaacgtgg gattcagccc cagcctcact tagtggaggt tcttttacca tggacccagg
     1021 ctgcctggtt tgtatccaac ctctgcccct tctgacctgg aagaggcgct tgaccttcct
     1081 cccacatccc ttccagtggg gtgagtacag gtgttcctca gtttacaatg ggttacattc
     1141 cggtgagtac atcataggtt gaaagtattg caagttgaaa tgtgtttaat acacctaatc
     1201 tcccaaacat cacagcttag catggtccat cttaagcttg ttcagaacgc cttagcctgt
     1261 agttggggaa actcgtctaa cacgaagcct gttttaataa agtattgaat gtcttatgta
     1321 atttattgaa
//
LOCUS       NM_001031617            4839 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens cytochrome c oxidase assembly factor COX19 (COX19),
            mRNA.
ACCESSION   NM_001031617
VERSION     NM_001031617.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4839)
  AUTHORS   Wang H, St Julien KR, Stevenson DK, Hoffmann TJ, Witte JS, Lazzeroni
            LC, Krasnow MA, Quaintance CC, Oehlert JW, Jelliffe-Pawlowski LL,
            Gould JB, Shaw GM and O'Brodovich HM.
  TITLE     A genome-wide association study (GWAS) for bronchopulmonary
            dysplasia
  JOURNAL   Pediatrics 132 (2), 290-297 (2013)
   PUBMED   23897914
REFERENCE   2  (bases 1 to 4839)
  AUTHORS   Fischer M, Horn S, Belkacemi A, Kojer K, Petrungaro C, Habich M, Ali
            M, Kuttner V, Bien M, Kauff F, Dengjel J, Herrmann JM and Riemer J.
  TITLE     Protein import and oxidative folding in the mitochondrial
            intermembrane space of intact mammalian cells
  JOURNAL   Mol Biol Cell 24 (14), 2160-2170 (2013)
   PUBMED   23676665
REFERENCE   3  (bases 1 to 4839)
  AUTHORS   Leary SC, Cobine PA, Nishimura T, Verdijk RM, de Krijger R, de Coo
            R, Tarnopolsky MA, Winge DR and Shoubridge EA.
  TITLE     COX19 mediates the transduction of a mitochondrial redox signal from
            SCO1 that regulates ATP7A-mediated cellular copper efflux
  JOURNAL   Mol Biol Cell 24 (6), 683-691 (2013)
   PUBMED   23345593
  REMARK    GeneRIF: COX19 is necessary for the transduction of a SCO1-dependent
            mitochondrial redox signal that regulates ATP7A-mediated cellular
            copper efflux.
REFERENCE   4  (bases 1 to 4839)
  AUTHORS   Sacconi S, Trevisson E, Pistollato F, Baldoin MC, Rezzonico R,
            Bourget I, Desnuelle C, Tenconi R, Basso G, DiMauro S and Salviati
            L.
  TITLE     hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase
            assembly
  JOURNAL   Biochem Biophys Res Commun 337 (3), 832-839 (2005)
   PUBMED   16212937
  REMARK    GeneRIF: Both hCox18p and hCox19p present significant amino acid
            identity with the corresponding yeast polypeptides and reveal highly
            conserved functional domains.
REFERENCE   5  (bases 1 to 4839)
  AUTHORS   Tay SK, Nesti C, Mancuso M, Schon EA, Shanske S, Bonilla E, Davidson
            MM and Dimauro S.
  TITLE     Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase
            deficiency
  JOURNAL   Arch Neurol 61 (12), 1935-1937 (2004)
   PUBMED   15596615
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY957566.1, SRR1660803.247765.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2154125
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000344111.4/ ENSP00000342015.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY957566.1, AC073957.7 and AA437231.1.
            On Nov 22, 2018 this sequence version replaced NM_001031617.2.
            Summary: COX19 encodes a cytochrome c oxidase (COX)-assembly
            protein. The S. cerevisiae Cox19 protein may play a role in metal
            transport to the mitochondrial intermembrane space and assembly of
            complex IV of the mitochondrial respiratory chain (Sacconi et al.,
            2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4839
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     gene            1..4839
                     /gene="COX19"
                     /note="cytochrome c oxidase assembly factor COX19"
                     /db_xref="GeneID:90639"
                     /db_xref="HGNC:HGNC:28074"
                     /db_xref="MIM:610429"
     CDS             41..313
                     /gene="COX19"
                     /note="hCOX19; COX19 cytochrome c oxidase assembly homolog;
                     cytochrome c oxidase assembly homolog 19; COX19, cytochrome
                     c oxidase assembly factor"
                     /codon_start=1
                     /product="cytochrome c oxidase assembly protein COX19"
                     /protein_id="NP_001026788.1"
                     /db_xref="CCDS:CCDS34582.1"
                     /db_xref="GeneID:90639"
                     /db_xref="HGNC:HGNC:28074"
                     /db_xref="MIM:610429"
                     /translation="MSTAMNFGTKSFQPRPPDKGSFPLDHLGECKSFKEKFMKCLHNNN
                     FENALCRKESKEYLECRMERKLMLQEPLEKLGFGDLTSGKSEAKK"
     misc_feature    41..100
                     /gene="COX19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49B96.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    44..46
                     /gene="COX19"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q49B96.1); acetylation site"
     misc_feature    128..160
                     /gene="COX19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49B96.1);
                     Region: Cx9C motif 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01150"
     misc_feature    191..223
                     /gene="COX19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49B96.1);
                     Region: Cx9C motif 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01150"
     regulatory      309..314
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX19"
                     /note="hexamer: AATGAA"
     polyA_site      328
                     /gene="COX19"
                     /note="major polyA site"
     regulatory      2730..2735
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX19"
                     /note="hexamer: AATAAA"
     polyA_site      2751
                     /gene="COX19"
                     /note="major polyA site"
     regulatory      4818..4823
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX19"
                     /note="hexamer: ATTAAA"
     polyA_site      4839
                     /gene="COX19"
                     /note="major polyA site"
ORIGIN
        1 gtacgctcgc aaggcgctcg cagactccgg agtcgccaac atgtcgaccg ccatgaattt
       61 cgggaccaag agcttccagc cgcggccccc ggacaagggc agcttcccgc tggatcactt
      121 aggtgaatgt aaaagcttta aagagaaatt catgaagtgt cttcataaca ataattttga
      181 aaatgctttg tgcagaaagg aatcaaaaga atatttagaa tgcaggatgg agagaaaatt
      241 gatgctacaa gaaccattgg agaaactggg atttggagac ttgactagtg gaaaatcaga
      301 ggcaaaaaaa tgaattttga tgagaagacc cctgggccgt gttcagtggt ctctcaggac
      361 ggagggcatc atcctgcctc ttaggttggc tgaggcctgc gtgtggtgtc cttagaaatg
      421 ggcttcgaat agaagctcca gccctgtggg ggcgtctcct gggtagggag tggcgtcccg
      481 ttttccctta ggagggtgtt tctgcattga acccctgagt gggacggcgt tcccggcaaa
      541 gctgggaggg aggcgagcgt ggggcaagac ccttgtcttc gaggccgggg ccctcttgta
      601 tggggcggtt ttatgttgca gtcctctgat actttctgag ttcaaagagg taaatgtata
      661 aatttcagtc ccttctgaac acagatatca tcagaaaatt accattccct agcaggatgt
      721 tttcgtgttt gtattcgtat atgccagttc atttcctttg aaaaaaaaaa aaagtggaac
      781 acaaagtagg aagtgagaac cttctggctt tggatggatt gacttcttga ttctttctgg
      841 ttttgcctga acaccaagta gcttcataat caaagggtca ttttctggtt tgtatcagac
      901 cgtatttata aagttgggta tttaatttca gtaactcctg tattttaaca gaaaaagaac
      961 ctgagtccat ttgcagttag gctcgcacca gctgtcttct gtgccagcca gctccgcccg
     1021 agaccccggc acgtgttcgc agcacagcct ggcaggggcc ctgagcggag ttctcagccc
     1081 gtctgtgcca aagttgcctg tgggtcacgg aaacccggcc catgtccacc cagtgcgtca
     1141 ggccagccgg ggcccaaacc tgtggatgga acgcaggtgc ctgcacatct ggggcctcag
     1201 ccagacctgt ctccttccca ggcactgtcg gaaaggggct ggctcctgtc tggtcagtgg
     1261 aggatggtgg caggagacgg ggtggggagg tccaggtcac gtcctctctg gcgaccctgg
     1321 cagtggctgt ctccaagccc tggcaggtgg ggccaccaat ctggccgacc tcaggctctg
     1381 ggaaacaggc tgccctcgtc cctctgcctg tgggtggctg aggcttctca gcccatctcc
     1441 agttctctgc agcaaaggcc ctctgtttct gtcctgcagt ggtggccctt tcgtggttaa
     1501 acatgtccct cccctcctca cagaactgag tacctattgc ggctgggccc gcccaaccct
     1561 gtgtccctgc acccatgggt tctaccacct gattcggctg cagctgtcac tgtcccgtgt
     1621 ctgctctctg tcaggcctct gagtgctgca gacgtattaa catatcaccg ctagttgatg
     1681 gaaagtcttg tttcttatta gaatattttg tgtaggcaca gggttgcccc agcactgtct
     1741 atagcaaccc cagtgtcctc acagtgcacg tgagccgtga cgcagccacc gtggagtcgg
     1801 cgctgacgcg gtgtggccac gtgccatgag ctcgccaacg cagtgcggct atatggcgtg
     1861 agcttactgt gaagtggaga caggcaggga cacaggaaac tacaaacgag aaatccagaa
     1921 ggaggagctg gaactgatgg gcatagccgg ccgcgagccc ctccgagcac ccctgggggt
     1981 ggagttctgg ctgtcatggc agagggtttc acatgctcaa aaagtaaatg aaccaggatg
     2041 tgaggggaac acaacagacc atgccgacgg agctcccggg cccaggccgg ggcctcttcc
     2101 catcgcactc tgacccgccg tcgggagtgc ccaggcccgg gtcgggcctg cctctccgct
     2161 cgcaccgcac tctgacccat caggagtgtg gggaagaccg tcgaccaaag gtgggaaaga
     2221 caggaaagat actgtactct aagtagtaaa tttgtttttt gcgtggacga ttctgaagct
     2281 gtattctgag atggaaaaaa ctagaaatac atcgtggatg atgagagcca ggtgtattga
     2341 gctcctgctt ttctaacgta caaaggtaac tggatagaga aacggagtga tcgccctcac
     2401 ctggccaggg tgtgctccga gaccccagca ggtgccgaag ccgcggatag tcccgaatcc
     2461 tgtccaggcg ctgttttttc ctgtacgtac ctgtgatcaa gtctgagatg tgacagcaaa
     2521 actgacagaa cttcgtgctt ccctcttcaa aatgtcacag atgggcactg tgttcttacc
     2581 ggagatctta gcaacctcgg catctggctg tttttcttat aggtcaggag tttccacctt
     2641 ttcccttaaa ggaagcgctt ggcagcttct ctggtgtgtc tgagtcgcca gcatcaccac
     2701 tgtcctgttc tggggccatt cttaagtaaa ataaaagctt cttggaccca agcaccacat
     2761 caccgcgatg gctggtctga tcaccgagat ggctgctgag tgcctggcag gcagggtggc
     2821 gtggatggcc cgaaacgctg gacggaggga gggttgatgt cccagcagga cggctgctca
     2881 gaacagcaca gaatcaaaaa ctcatgaatg gtttatttct ggaattttcc acttagtatt
     2941 tttggactgt ggctgaccat gggtaactga aaccgtgtgt aagggggact gttgtgaggg
     3001 gctgtgcaca aatgcttccc agctcttgag ggcctggacg cagtgacccg tgcactcagg
     3061 gtcttggccc tgataccatt ctgtaaccaa aaggaaccag ggccaggcca gagaaggtat
     3121 cagatgagct agagagtgaa gaattgctgg gatgaggaga cttgttgaaa taacacgggg
     3181 ggatgggaag gagcatacgg tggccagcct ggggcagtgt gagcgtgaaa ataaacaggc
     3241 tgggcgcagc ggctcacgcc tgcaatccca gcactttagg aggccaaggt gggaggatca
     3301 cttgaggcta ggagttcaag accagcctgg gcaacatggg tgaaaccctg tctctacaaa
     3361 acaagaaaag tcagccgtgc gtggtgtcac ccgcctgtag tcccagatac tcaggaagct
     3421 gaggcaggag gatcacttga gccagaggtt aagtctgcag tgagctgtga ttgtaccact
     3481 gctctccagc ctgagcaaca gagccggacc ctgtctcacc aaaggaaaaa aaaaaaaaaa
     3541 aaagaaagaa aattaattat tgtaatgggc tgtagccctc agaataaatt gatatccagt
     3601 agtctataca acataagtaa ttgcgtaaac atgtcagtgg ggggagggcc aggtctgtct
     3661 tattaattct aatatagaag aaattttggg aacaggaaac tgctgttgca gaaaccacac
     3721 tggtgacagg tgcagattac aaccctcagc gggccgggcg ccagtggctc acgcctataa
     3781 tcccaacact ttgggaggcc gaggcaggca gatcacttga ggccaggagt tcaaggccag
     3841 cctggccaac atggagaaac cctgtctcta ctaaaaatac aaaaattagc tggggctggt
     3901 ggcgtgtgtc tgtaatccag ctattcggga ggccgaggtg ggagaattgc ctaaaccagg
     3961 aggcagaggt tgcagtgagc agggattgtg ccaccacact ccagcctggg cgacagaacc
     4021 gtctcaaaaa aaaaccctca gttgccatga agtgagtggt gacgtgtggt gtgaagcagg
     4081 tgtctgctgt cttgagaaac ctccccttga gatgcatagt gacctccgag gagacagtca
     4141 tgtcacagca gaacggcaga ggccccctta acccagcagc caccgccggg agcgagccgc
     4201 acaggccgca ccgacctggg ggcgtccctg agggcacggt atcacctctg gttctcttgc
     4261 ccaactgcat ggcctgaatg taatcccaag gagacaacag acacagaccc aaaccgagga
     4321 gccttctgcg aagtgactgg cagcgctggc ccagtgttat gtaagatgtt atttggggaa
     4381 ctgggtatac acactgtcct atttttggaa ctttttggaa gtctgaaatt attttgaaat
     4441 gaggaaaaaa aaatatgctt tgtatgaaac tatagtggaa tagattgagt cgattctcgt
     4501 ttcaaaataa cttcaaagag tttccaatag gcatgatgcc ggcatgaatg gtttcagcag
     4561 gtcacaggca gagaagccgg aatcccaaaa tagcgccatt gtgtggacaa cctgactcct
     4621 tacaaacgtg cagtggcttc ccaacgctgc ctttgagttt ctgggtctgg ctgctgaatg
     4681 tgttgtgctt aagaatccag acaccctgct gttcctgcca gagcttctca cgagatattt
     4741 cgggtagttc atcatctgtc atgtgcagaa tgcattttat ttctcataga cgcttgtcat
     4801 gataagctgg ccacattatt aaaaggctcc caaagacaa
//
LOCUS       NM_001031623            5088 bp    mRNA    linear   PRI 16-JUN-2023
DEFINITION  Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1,
            mRNA.
ACCESSION   NM_001031623
VERSION     NM_001031623.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5088)
  AUTHORS   Oravcova M, Nie M, Zilio N, Maeda S, Jami-Alahmadi Y,
            Lazzerini-Denchi E, Wohlschlegel JA, Ulrich HD, Otomo T and Boddy
            MN.
  TITLE     The Nse5/6-like SIMC1-SLF2 complex localizes SMC5/6 to viral
            replication centers
  JOURNAL   Elife 11, e79676 (2022)
   PUBMED   36373674
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5088)
  AUTHORS   Gao J, Ao YQ, Zhang LX, Deng J, Wang S, Wang HK, Jiang JH and Ding
            JY.
  TITLE     Exosomal circZNF451 restrains anti-PD1 treatment in lung
            adenocarcinoma via polarizing macrophages by complexing with TRIM56
            and FXR1
  JOURNAL   J Exp Clin Cancer Res 41 (1), 295 (2022)
   PUBMED   36209117
  REMARK    GeneRIF: Exosomal circZNF451 restrains anti-PD1 treatment in lung
            adenocarcinoma via polarizing macrophages by complexing with TRIM56
            and FXR1. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5088)
  AUTHORS   Rawat P, Boehning M, Hummel B, Aprile-Garcia F, Pandit AS,
            Eisenhardt N, Khavaran A, Niskanen E, Vos SM, Palvimo JJ, Pichler A,
            Cramer P and Sawarkar R.
  TITLE     Stress-induced nuclear condensation of NELF drives transcriptional
            downregulation
  JOURNAL   Mol Cell 81 (5), 1013-1026 (2021)
   PUBMED   33548202
  REMARK    GeneRIF: Stress-induced nuclear condensation of NELF drives
            transcriptional downregulation.
REFERENCE   4  (bases 1 to 5088)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5088)
  AUTHORS   Zhang Z, Chen H, Lu Y, Feng T and Sun W.
  TITLE     LncRNA BC032020 suppresses the survival of human pancreatic ductal
            adenocarcinoma cells by targeting ZNF451
  JOURNAL   Int J Oncol 52 (4), 1224-1234 (2018)
   PUBMED   29532883
  REMARK    GeneRIF: The findings of this study indicate that BC032020
            suppresses the survival of PDAC cells by inhibiting ZNF451
            expression.
REFERENCE   6  (bases 1 to 5088)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   7  (bases 1 to 5088)
  AUTHORS   Karvonen U, Jaaskelainen T, Rytinki M, Kaikkonen S and Palvimo JJ.
  TITLE     ZNF451 is a novel PML body- and SUMO-associated transcriptional
            coregulator
  JOURNAL   J Mol Biol 382 (3), 585-600 (2008)
   PUBMED   18656483
  REMARK    GeneRIF: Data describe ZNF451, a nuclear protein that can be
            associated with promyelocytic leukemia bodies, and exerts its
            effects via SUMO modification machinery and trafficking of
            transcription regulators between promyelocytic leukemia bodies and
            nucleoplasm.
REFERENCE   8  (bases 1 to 5088)
  AUTHORS   Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A,
            Meil A, Wojcik J, Legrain P and Gauthier JM.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   9  (bases 1 to 5088)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   10  (bases 1 to 5088)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH,
            Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX648081.1, SRR1660803.110752.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370706.9/ ENSP00000359740.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY055204.1, CN314846.1, AB011148.1, AK027805.1 and AL136311.7.
            On Nov 22, 2018 this sequence version replaced NM_001031623.2.
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5088
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.1"
     gene            1..5088
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
                     /note="zinc finger protein 451"
                     /db_xref="GeneID:26036"
                     /db_xref="HGNC:HGNC:21091"
                     /db_xref="MIM:615708"
     CDS             67..3252
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coactivator for steroid receptors; E3 SUMO-protein ligase
                     ZNF451; E3 SUMO-protein transferase ZNF451; zinc finger
                     protein associated with TDP2 and TOP2"
                     /codon_start=1
                     /product="E3 SUMO-protein ligase ZNF451 isoform 1"
                     /protein_id="NP_001026794.1"
                     /db_xref="CCDS:CCDS43477.1"
                     /db_xref="GeneID:26036"
                     /db_xref="HGNC:HGNC:21091"
                     /db_xref="MIM:615708"
                     /translation="MGDPGSEIIESVPPAGPEASESTTDENEDDIQFVSEGPLRPVLEY
                     IDLVSSDDEEPSTSYTDENIKRKDHIDYQKDKVALTLARLARHVEVEKQQKEEKNRAFR
                     EKIDFQHAHGLQELEFIRGHSDTEAARLCVDQWLKMPGLKTGTINCGTKSSFRRGGHTW
                     VSGKPILCPIMHCNKEFDNGHLLLGHLKRFDHSPCDPTITLHGPFFSSFACVVCYKKFV
                     TQQQYRDHLFDKEATDDGHNNNLLPQIIQCFACPNCFLLFSRKEECSKHMSGKNHFHQS
                     FKLGDNKGIAHPISFPSFAKKLLISLCKDVPFQVKCVACHKTLRSHMELTAHFRVHCRN
                     AGPVAVAEKSITQVAEKFILRGYCPDCNQVFVDETSTQNHKQNSGHKVRVINSVEESVL
                     LYCHSSEGNKDPSSDLHLLLDQSKFSSLKRTMSIKESSSLECIAIPKKKMNLKDKSHEG
                     VACVQKEKSVVKTWFCECNQRFPSEDAVEKHVFSANTMGYKCVVCGKVCDDSGVIRLHM
                     SRIHGGAHLNNFLFWCRTCKKELTRKDTIMAHVTEFHNGHRYFYEMDEVEGETLPSSST
                     TLDNLTANKPSSAITVIDHSPANSSPRGKWQCRICEDMFDSQEYVKQHCMSLASHKFHR
                     YSCAHCRKPFHKIETLYRHCQDEHDNEIKIKYFCGLCDLIFNVEEAFLSHYEEHHSIDY
                     VFVSEKTETSIKTEDDFPVIETSNQLTCGCRESYICKVNRKEDYSRCLQIMLDKGKLWF
                     RCSLCSATAQNLTDMNTHIHQVHKEKSDEEEQQYVIKCGTCTKAFHDPESAQQHFHRKH
                     CFLQKPSVAHFGSEKSNLYKFTASASHTERKLKQAINYSKSLDMEKGVENDLSYQNIEE
                     EIVELPDLDYLRTMTHIVFVDFDNWSNFFGHLPGHLNQGTFIWGFQGGNTNWKPPLNCK
                     IYNYLNRIGCFFLHPRCSKRKDAADFAICMHAGRLDEQLPKQIPFTILSGDQGFLELEN
                     QFKKTQRPAHILNPHHLEGDMMCALLNSISDTTKECDSDDNMGAKNTSIGEEFISTEDV
                     ELEEAIRRSLEEM"
     misc_feature    67..1098
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4E5.2);
                     Region: Important for interaction with SUMO1 and SUMO2.
                     /evidence=ECO:0000269|PubMed:18656483"
     misc_feature    67..804
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4E5.2);
                     Region: Sufficient for E3 SUMO-protein ligase activity.
                     /evidence=ECO:0000269|PubMed:26524493"
     misc_feature    67..180
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4E5.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    154..177
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4E5.2);
                     Region: Interaction with SUMO2 1.
                     /evidence=ECO:0000269|PubMed:26524494"
     misc_feature    178..189
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4E5.2);
                     Region: PLRP. /evidence=ECO:0000305"
     misc_feature    190..216
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4E5.2);
                     Region: Interaction with SUMO2 2.
                     /evidence=ECO:0000269|PubMed:26524494"
     misc_feature    529..531
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y4E5.2); phosphorylation site"
     misc_feature    538..540
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q9Y4E5.2); methylation site"
     misc_feature    568..1641
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4E5.2);
                     Region: Important for interaction with SMAD4.
                     /evidence=ECO:0000269|PubMed:24324267"
     misc_feature    1360..1362
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y4E5.2); phosphorylation site"
     misc_feature    3214..3249
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y4E5.2);
                     Region: Important for ubiquitin binding.
                     /evidence=ECO:0000269|PubMed:18656483"
     regulatory      4963..4968
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
                     /note="hexamer: ATTAAA"
     polyA_site      4985
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
                     /note="major polyA site"
     regulatory      5064..5069
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
                     /note="hexamer: AGTAAA"
     polyA_site      5088
                     /gene="ZNF451"
                     /gene_synonym="COASTER; dJ417I1.1; ZATT"
ORIGIN
        1 attcgtggcg acggcggcgg cagggacagc aggagcagtg gtgctgtcag cgcggccgtc
       61 ggagacatgg gagacccggg gtcggagata atagaatctg tccctccagc tggccctgag
      121 gcatctgagt caacaacgga tgaaaatgaa gacgacattc agtttgtcag tgaaggacca
      181 ttacgacctg ttcttgaata cattgatctg gtcagcagtg atgatgaaga gcctagcacc
      241 tcttatactg atgagaatat taaacgtaaa gaccatattg attatcagaa ggataaagtt
      301 gctttaactc tggctcgtct agcccgccat gttgaagtgg agaaacagca gaaagaagag
      361 aagaatagag cattcagaga aaaaattgat tttcagcatg ctcatgggtt acaagaattg
      421 gaatttattc gaggacattc tgatacagaa gcagcaagac tgtgtgtgga ccagtggcta
      481 aaaatgccag gactcaaaac aggcacaatt aattgtggaa caaaaagttc attccgaaga
      541 ggaggccaca cgtgggtgtc tgggaaacca attttatgtc ctataatgca ctgtaacaag
      601 gagtttgaca atgggcacct tctcttagga catttgaaaa ggttcgatca ctctccatgt
      661 gatccaacaa ttacactaca tggacctttc ttcagctcct ttgcttgtgt agtatgttat
      721 aaaaaatttg ttactcaaca acaatataga gatcaccttt ttgataagga agccacagat
      781 gatggacata acaacaacct tcttcctcag attattcagt gttttgcatg tccaaattgc
      841 ttccttcttt ttagcagaaa ggaggagtgt tcaaagcata tgtctggaaa gaatcatttc
      901 catcagagtt tcaaactggg tgataacaaa ggaattgcac atccaatatc tttcccatct
      961 tttgcaaaga aacttttgat ctctctgtgc aaagatgttc cctttcaagt taagtgtgtg
     1021 gcctgccaca agacactgcg ttcccacatg gagctcactg cccatttcag agttcattgt
     1081 cgaaatgctg gacctgtagc tgtagctgag aagagcatta cccaggttgc agagaaattc
     1141 atattaagag gttattgtcc agattgcaat caagtctttg tggatgaaac cagcacccaa
     1201 aatcataagc agaattcagg acacaaagtc cgagtcatta actcagtgga agaatcagtc
     1261 ttactctatt gccacagcag cgaagggaac aaggatcctt cttctgactt gcatttattg
     1321 ttggatcaat caaaattttc atcacttaaa agaaccatgt ctattaaaga atctagctca
     1381 ctggagtgca ttgccattcc aaaaaagaag atgaatttaa aagataaaag ccatgaaggt
     1441 gttgcttgtg tccagaaaga aaaatcagta gttaaaacct ggttctgtga atgcaatcag
     1501 cgattcccaa gtgaagatgc agtagaaaag catgttttct cagcaaacac aatgggttat
     1561 aaatgtgtgg tctgtggaaa ggtatgtgat gattcagggg tcattcgttt acacatgagc
     1621 cggattcacg gaggggcaca tttaaataac tttcttttct ggtgtcggac atgcaaaaag
     1681 gagttaacaa ggaaagatac tatcatggca catgtgactg aatttcataa tggacacaga
     1741 tatttttatg agatggatga ggtagaaggt gaaactttgc catcatcctc tacaacattg
     1801 gataatttga ctgctaacaa gccttcatca gctattactg ttattgatca ttccccggca
     1861 aatagttctc cgaggggtaa atggcaatgc cggatttgtg aagatatgtt tgattcccag
     1921 gaatatgtaa aacagcactg catgtctttg gcaagccaca agtttcatag atacagctgt
     1981 gctcactgca gaaagccttt tcataagata gaaacattgt accgacattg ccaagatgag
     2041 catgacaatg agataaagat taaatacttc tgtgggcttt gtgatcttat ctttaatgtg
     2101 gaagaagcat ttctgagtca ttatgaggag caccacagca tagattatgt atttgtgtca
     2161 gaaaaaactg aaacttcaat taaaaccgaa gatgattttc cagtaataga gaccagtaac
     2221 cagttaactt gtggttgccg tgagagttac atctgtaaag tcaacagaaa agaagattat
     2281 agcagatgtc tccaaatcat gctggataaa ggaaaactgt ggtttcgctg cagtttatgt
     2341 tcggcaacag cacagaattt aaccgacatg aacactcata tccatcaagt gcacaaagaa
     2401 aagagtgatg aggaggagca gcagtatgta atcaagtgtg gcacctgcac caaagcattt
     2461 catgatcctg agagtgcaca gcagcatttc catagaaaac attgcttctt acagaaaccc
     2521 agtgtggctc attttggatc tgaaaaatca aacctgtaca agtttactgc tagtgcctca
     2581 catacagaga gaaaactgaa acaggcaata aactattcaa aaagtttaga catggagaaa
     2641 ggagttgaga atgacctaag ctatcagaat atagaggaag aaattgttga gcttccagat
     2701 ttggattacc tgcgaaccat gactcatata gtctttgtag attttgataa ctggtcaaac
     2761 ttttttggtc atctaccagg gcatctaaac caaggaacat ttatttgggg ctttcaagga
     2821 ggaaacacca attggaagcc tccgctcaac tgtaagattt ataactacct gaacaggatt
     2881 ggatgcttct tccttcatcc tcgctgtagt aaaagaaaag atgctgctga ttttgccata
     2941 tgtatgcatg ctggccgtct agatgaacaa ctacccaagc aaattccttt caccatcctc
     3001 tcaggagatc aaggttttct ggagctagag aatcaattta agaagactca gaggccagct
     3061 catatactaa accctcacca cttagaggga gatatgatgt gtgccttgtt aaatagcata
     3121 tctgatacca ccaaagaatg tgacagtgat gataacatgg gtgccaaaaa tacttcaata
     3181 ggagaagaat ttatatccac agaagatgtg gaattagaag aagctattag aagaagtctt
     3241 gaggaaatgt aattaaagat attaccacac aacatcaagt ggccttgaag agactgagat
     3301 aacgaattct tgagtttgtt ttctaaagga gaccagaaat ccactattac aaatgtattt
     3361 gaaaacatgt ttttgctttc atatgttcaa aatctgatct ttgttttgta tttttgtgct
     3421 aatgtgcaaa catgtacaga agaaatagaa tacatgttca tgcaaatata aattatgtat
     3481 tctaatatag gtgtaacagt ttcccagtta actttgaatt tatatattta gatttaaagg
     3541 attaaaaaaa aggaaagctc ttgacagttg tttcccaaat agcattagtt ctttaatttt
     3601 atttgtactg tacaaatgat gctagtttat ttttttagca gtgaaaatga atataaaaaa
     3661 ggtgacatag gtcaagtttt ccataaattc tacttctcat gtggcactat tatataatac
     3721 ctttgagatc tttgtttatg tttattagaa gagggtaatg gaaactgatc atggaaacat
     3781 ttaaaatttt atcagcaatg ttctttgtgg gtgccatgca tatgtaaatt attgctttaa
     3841 ttagagcagc acattgctaa aataaaaaat acaccttaat ttttaagaaa taatttaaat
     3901 gaaacaattt ccattccttt tacctgctta gacttttatg tgacttgtat ggtctcctgg
     3961 ttaaagggaa tggtgtcaga atatttgcat aaaattattt ttcataacag tcctttttta
     4021 tatattggtg taaacataat attcttcaag aaataatgtt gaaagcctac tcaggaataa
     4081 tcttccttaa ctctttaaat ttttatttca tgtgaagtgt tttcagttta gttattcact
     4141 gaattgtcag tttccttcat ttggtattac atatttaatt cttaaatatt gaggccccat
     4201 tgtgagtaat aaaaaatacg acataagtag aagactaaga agggcttgtc atattatctt
     4261 tgtgtatatg cttcatgtta tttaaccaga aatgtcttat ctctaaaaat ttttagtagt
     4321 aattatttac caaacttaaa aacatttcta taaatataaa gcttttcttt atatttaaga
     4381 caaaatataa aggctagaat ttggttcctt ctctgtaaca ctaaatattt tagtgtgaaa
     4441 ttgaattttt ttattactat agtcttttca atctataatt tgtgttttta atttcttgat
     4501 atgtcacttc tgttcctccc tgcttgcatt ttttaaaaac tagacattgt ggcttgagaa
     4561 tttatcaatc atctttccga aatgaccaca ttgtgctttt agtttgtatg tttaagtggt
     4621 caagcaaggc tctaggaggt agtcactgag ctggacctta aacacatctg caggagctca
     4681 caaaatggga gcaaaagagg cattccagaa agaagagtag ttaagcagat gtgggggcag
     4741 ggcaagagga gacagcacct tgttgccaga gattctacac aaaggtgtga tggacactga
     4801 tgctctatta agaagctttt gtggtgtgtg tggtagagaa taattaaggc ttctgataag
     4861 acaggaaagg gatatttcat catgactgtt aagaaaaggt aactgggttg tttaatgttt
     4921 taattgataa ttgtcactga tcgtatttct acttgttaaa taattaaaaa tcatcttaaa
     4981 attcatactt tgactttaat ttagacacaa ggagatgtaa tcgctgtgta acatcagaga
     5041 aagctatatg gattatcgtc agaagtaaat gtttctaaca ttgacaaa
//
LOCUS       NM_001031628            1875 bp    mRNA    linear   PRI 22-JAN-2023
DEFINITION  Homo sapiens small cell adhesion glycoprotein (SMAGP), transcript
            variant 1, mRNA.
ACCESSION   NM_001031628
VERSION     NM_001031628.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1875)
  AUTHORS   Xiao H, Yang X and Huang S.
  TITLE     SMAGP regulates doxorubicin sensitivity in triple-negative breast
            cancer cells via modulating mitochondrial respiration
  JOURNAL   Cancer Chemother Pharmacol 91 (1), 43-52 (2023)
   PUBMED   36436062
  REMARK    GeneRIF: SMAGP regulates doxorubicin sensitivity in triple-negative
            breast cancer cells via modulating mitochondrial respiration.
REFERENCE   2  (bases 1 to 1875)
  AUTHORS   Ni H, Ji D, Huang Z and Li J.
  TITLE     SMAGP knockdown inhibits the malignant phenotypes of glioblastoma
            cells by inactivating the PI3K/Akt pathway
  JOURNAL   Arch Biochem Biophys 695, 108628 (2020)
   PUBMED   33049294
  REMARK    GeneRIF: SMAGP knockdown inhibits the malignant phenotypes of
            glioblastoma cells by inactivating the PI3K/Akt pathway.
REFERENCE   3  (bases 1 to 1875)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1875)
  AUTHORS   Tarbe NG, Rio MC, Hummel S, Weidle UH and Zoller M.
  TITLE     Overexpression of the small transmembrane and glycosylated protein
            SMAGP supports metastasis formation of a rat pancreatic
            adenocarcinoma line
  JOURNAL   Int J Cancer 117 (6), 913-922 (2005)
   PUBMED   15986429
REFERENCE   5  (bases 1 to 1875)
  AUTHORS   Tarbe NG, Rio MC and Weidle UH.
  TITLE     SMAGP, a new small trans-membrane glycoprotein altered in cancer
  JOURNAL   Oncogene 23 (19), 3395-3403 (2004)
   PUBMED   15021913
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.514370.1, BC045658.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142853 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000603798.6/ ENSP00000475068.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CA776511.1, BC008712.1 and AC139768.14.
            On Nov 22, 2018 this sequence version replaced NM_001031628.1.
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1875
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..1875
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
                     /note="small cell adhesion glycoprotein"
                     /db_xref="GeneID:57228"
                     /db_xref="HGNC:HGNC:26918"
     CDS             199..492
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
                     /note="small trans-membrane and glycosylated protein; small
                     cell transmembrane and glycosylated protein; small
                     transmembrane and glycosylated protein"
                     /codon_start=1
                     /product="small cell adhesion glycoprotein"
                     /protein_id="NP_001026798.1"
                     /db_xref="CCDS:CCDS44889.1"
                     /db_xref="GeneID:57228"
                     /db_xref="HGNC:HGNC:26918"
                     /translation="MTSLLTTPSPREELMTTPILQPTEALSPEDGASTALIAVVITVVF
                     LTLLSVVILIFFYLYKNKGSYVTYEPTEGEPSAIVQMESDLAKGSEKEEYFI"
     misc_feature    202..204
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q0VAQ4.1); glycosylation site"
     misc_feature    205..207
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
                     /note="O-linked (GalNAc...) serine. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (Q0VAQ4.1);
                     glycosylation site"
     misc_feature    214..216
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q0VAQ4.1); glycosylation site"
     misc_feature    217..219
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q0VAQ4.1); glycosylation site"
     misc_feature    223..225
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
                     /note="O-linked (GalNAc...) serine. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (Q0VAQ4.1);
                     glycosylation site"
     misc_feature    244..246
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q0VAQ4.1); glycosylation site"
     misc_feature    247..249
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q0VAQ4.1); glycosylation site"
     misc_feature    265..267
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q0VAQ4.1); glycosylation site"
     misc_feature    307..369
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0VAQ4.1);
                     transmembrane region"
     regulatory      1057..1062
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
                     /note="hexamer: ATTAAA"
     polyA_site      1082
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
                     /note="major polyA site"
     polyA_site      1107
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
     polyA_site      1134
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
     regulatory      1846..1851
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
                     /note="hexamer: ATTAAA"
     polyA_site      1875
                     /gene="SMAGP"
                     /gene_synonym="hSMAGP"
ORIGIN
        1 ctctgcgcca accccgcgcg ccacccgcgg cttcctccgc tcggggtcct cgttcggcct
       61 ctgctggcct ccgcgactcc gcggtgcccg cccccgttga gttcaaaagg acgcgcggag
      121 cggcgccggc ccttcaccag cagcccgtcc gactggaaag atctgcctct tctccaagaa
      181 actcaaccac tagtgacaat gaccagcctc ctgactactc cttctccaag agaagaactg
      241 atgaccaccc caattttaca gcccactgag gccctgtccc cagaagatgg agccagcaca
      301 gcactcattg cagttgttat caccgttgtc ttcctcaccc tgctctcggt cgtgatcttg
      361 atcttctttt acctgtacaa gaacaaaggc agctacgtca cctatgaacc tacagaaggt
      421 gagcccagtg ccatcgtcca gatggagagt gacttggcca agggcagcga gaaagaggaa
      481 tatttcatct aatgactccc aggccccaag gagcttattc ctggctccat cgctaacacg
      541 ttgactgctt attatgggaa agttttctct gaagccaggg agaagcattg attgatgtgg
      601 gcaaatccaa gctccagcca ggtcgcagtc ccaaatgccg acatcactga ctccagggac
      661 cagggacatg gagaaagctg tttatgatat ctttaaccag gccctcttac tagagctggt
      721 gtttgtgact ggccaacaag atgtggctat gccaggggac atctgagtat gtgcccagtc
      781 atcttttttc acaggttgaa gggagagaaa agattttgag ttaaggtcat tggctgctct
      841 actctgtccc ctacctggtc acctagtgat agccccagtg gagatactgt ccatacaagg
      901 tcttcccaga ggctggatac cacagtaaaa ggccaggcca ggaggggtag gagactatgg
      961 agatcttacc tcctgataaa tgtgctacac cccctaatct gagcccttcc tttccgtgtt
     1021 ccccaacaac ctcatgctta cgtgattttt attcaaatta aaaattttca ttgctacaga
     1081 aatcagattc tcatgtgcaa gaagtaacta cattttgact tatttttgct taaacatttt
     1141 tgacattttc ttttccctat ttaacgcctt tacatatgtt ctcttccaag caataagaac
     1201 cctaggaaag ttctagaagt ttgcagaact atctcaggga tttgagacaa agatggtgca
     1261 ggaaagcttg ttccagggga acatcattag aaacataccc tgggagggcc gggttcggtg
     1321 gctcacgcct gtgatcccag cactttggga ggccgaggca ggcggatcac aaggttagga
     1381 gatcgagacc atcctggcta acacggtgaa accccgtctc tactaaaaat atataaaaaa
     1441 aatagctggg cgtggtggcg ggcgcccata gtcccagctg cttgggaggc tgaggcagga
     1501 gaatggcttg aacccaggag gcggagcttg cagtgagctg agattgcacc actatactcc
     1561 agcctgggca acagagtgag actccgtctc aaaaaaaaaa aaaaaaaaaa aagtaccctg
     1621 ggagatgagt tggttcaagc ctccatcctg gcaagggcca gaatttccca gaatcccttc
     1681 tacatatata cagaaggaac cagaaaaaat caacctacca cctttcccag tgtatcctca
     1741 gaatcaagcc aagaagcttc ttggatttta gtctcaagat aagttgtgtt taaaaggcac
     1801 attttggtat aaattattag ctcatcagat attgttcact ttggaattaa agctagatct
     1861 cctttgaagt cttaa
//
LOCUS       NM_001031672            6193 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens cytochrome b5 reductase like (CYB5RL), transcript
            variant 1, mRNA.
ACCESSION   NM_001031672
VERSION     NM_001031672.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6193)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (bases 1 to 6193)
  AUTHORS   Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R,
            Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T,
            Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K,
            Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T,
            Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T
            and Sugano S.
  TITLE     Diversification of transcriptional modulation: large-scale
            identification and characterization of putative alternative
            promoters of human genes
  JOURNAL   Genome Res 16 (1), 55-65 (2006)
   PUBMED   16344560
REFERENCE   3  (bases 1 to 6193)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz
            TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha
            SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA,
            McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley
            KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM,
            Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan
            A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko
            Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC,
            Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS,
            Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones
            SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1910382.1,
            SRR11853560.1159.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000534324.6/ ENSP00000434343.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL357673.12.
            On Jun 2, 2019 this sequence version replaced NM_001031672.3.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6193
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     gene            1..6193
                     /gene="CYB5RL"
                     /note="cytochrome b5 reductase like"
                     /db_xref="GeneID:606495"
                     /db_xref="HGNC:HGNC:32220"
     misc_feature    257..259
                     /gene="CYB5RL"
                     /note="upstream in-frame stop codon"
     CDS             278..1225
                     /gene="CYB5RL"
                     /EC_number="1.6.2.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     NADH-cytochrome b5 reductase-like"
                     /codon_start=1
                     /product="NADH-cytochrome b5 reductase-like isoform 1"
                     /protein_id="NP_001026842.2"
                     /db_xref="CCDS:CCDS44151.1"
                     /db_xref="GeneID:606495"
                     /db_xref="HGNC:HGNC:32220"
                     /translation="MMAEREEDDDTEEAWMQLRPTEPLPSQCCGSGCSPCVFDLYHRDL
                     ARWEAAQASKDRSLLRGPESQSCPSKLNPETFVAFCIIAMDRLTKDTYRVRFALPGNSQ
                     LGLRPGQHLILRGIVDDLEIQRAYTPISPANAEGYFEVLIKCYQMGLMSRYVESWRVGD
                     TAFWRGPFGDFFYKPNQYGELLLLAAGTGLAPMVPILQSITDNENDETFVTLVGCFKTF
                     ESIYLKTFLQEQARFWNVRTFFVLSQESSSEQLPWSYQEKTHFGHLGQDLIKELVSCCR
                     RKPFALVCGSAEFTKDIARCLLCAGLTEDSYFLF"
     regulatory      2606..2611
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYB5RL"
                     /note="hexamer: ACTAAA"
     polyA_site      2626
                     /gene="CYB5RL"
                     /note="major polyA site"
     polyA_site      3476
                     /gene="CYB5RL"
     regulatory      3671..3676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYB5RL"
                     /note="hexamer: AATAAA"
     polyA_site      3693
                     /gene="CYB5RL"
     regulatory      5421..5426
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYB5RL"
                     /note="hexamer: AATAAA"
     polyA_site      5443
                     /gene="CYB5RL"
ORIGIN
        1 agagactggg aggaacctgg aaaatcctca cgtgaggtga agcgcaggcg agtagggcca
       61 gacatggtgg ctcatgcctg taatctcagc actttgggag actgagatga gaagatcact
      121 tgaggccagg agttcgagac cagactggca acatagtgag accctgtctc tacaaaatgc
      181 tggccaagga gcagggcctg cgcccgtggt ctcatagagc ctggcctgtt ctggaagagc
      241 acccagttgt tccttctagg ctgcccaagc cccactgatg atggctgaga gggaagagga
      301 cgacgacact gaggaagcct ggatgcagct acggcccaca gaacccttgc cttcccagtg
      361 ctgcggcagt ggctgctcac cctgtgtgtt tgacctctat caccgagatc tggcaaggtg
      421 ggaggcagcc caagccagca aggacaggag cctgctgcgt gggccagagt cacagagctg
      481 cccctccaag ctgaacccag agaccttcgt ggccttctgc atcattgcca tggacaggct
      541 cactaaggac acctaccgtg tccggtttgc tctacccggg aacagccagc ttggcctgcg
      601 gcccggccag cacctcatcc tacgagggat agtagatgac ttagaaattc agagagccta
      661 tacgcccatc agccctgcca acgcagaagg atactttgaa gtgttaatta agtgctacca
      721 gatggggctg atgtcccggt atgttgagtc ctggagagta ggagacacag ctttctggcg
      781 aggacctttc ggagatttct tctataaacc aaaccagtat ggtgagctcc tcttgctggc
      841 tgcgggcacg ggcctggccc ccatggtgcc tatcctgcag agcatcacag acaatgagaa
      901 tgacgagact tttgtcactc tggtcggttg cttcaagacc tttgagagca tctacctgaa
      961 aaccttcctc caagagcagg cccgtttctg gaatgtccgt accttctttg tactcagcca
     1021 ggagagctcc tcagagcagc ttccctggag ttaccaagag aaaacccact ttggccacct
     1081 gggccaggac ctaattaaag agctggtcag ctgctgtcgg agaaagccat tcgcactggt
     1141 ctgtggctcg gctgagttca ccaaagacat agccaggtgc ttactgtgcg caggcctcac
     1201 tgaggactcc tatttcctct tctagccctg gcctctcttc caaagcctag gccatgagcc
     1261 tgctactggg acccaggaag gagcacagac tggaatcaga agacacggag tccaggcctg
     1321 gtcctgctgc tcatttgcca ggtgaccttg ggcaagtgtc tttactgctc agaacctcta
     1381 cttctcatct gccccatgag gttaatcact cctcctggcc tcctactatg tagaaggagg
     1441 atgggctgta ggggccctga ggaggtgagc aaccagcctg ggagtcaggg aggactcttc
     1501 agaggaagcc aagtccaggc tgagccccag gaggagtagg agttgggcag gggaagagtc
     1561 gggaggagct tccctggccc ctccgattag aggatctaat gggggctcca actgtggcct
     1621 cagcaccatc tcggattagg ggctcctgag tgtgtaggga aggacacggg agaggcttag
     1681 agctctttgg aggaggattc tgcctttcct ccagtgccat gagcctgaca catgaaggtc
     1741 ttgggttcta tgacttgacc acatcctgag agcaaggtgg ggccctcgac tgtcttgtat
     1801 tggccccaag cctttcttgc tgtgaacagc ttcattctca gtcccctttc ctggctcaaa
     1861 aatcgagcct agcaaaagaa gaggcacggg aaggaaacgc ccctccctcc tcctgcaggc
     1921 agccactcag cctgtgcctt cagcttggtg ccctggtgat ggttgctatg gagatctaaa
     1981 gatagagcag gagtcaggag acctgggtcc ctctcccagc ttgtcccact gagcggctgc
     2041 cgatcacggt ccacccaccc caggaacctg gcacccctat cccaggaacc cagtgcccct
     2101 gggcagcgca ctgcagttaa tgaattctgc cttcaacagc ctgggctcta gcgtgctgca
     2161 ccagcttggg ctagctacag gcagtcccag aattggaata ttaagccatg gaatcttaga
     2221 gttagacttt tatagtcata gaaatgtact cttcaccata tcaaagctga aagttcagga
     2281 ctctaagaaa catacagtgt gacagactta tcgtatacac gggaaactga agcccagtga
     2341 gactaaatga cttgcccagg gtaaaacagt ccatggcaga gccagcacta gaagcctcct
     2401 agcttcaacc tcatgtgcca attctgcatc agtgattttc gaactgcgct ctacaggaag
     2461 caagggttct ttgcatagca gcagtgaaag gacagctcca gatggatccc cagtaccccc
     2521 ttcaaccaga gcagctgcat ttttatccca ttcatatatt ggggttttga attattttta
     2581 tttgtacaaa aggattttcc tagccactaa aaaaaatggc aacaaatctc tctgctgtgt
     2641 cacatttaat aaataattgt gacacatagc tggggggtgg tgctggaggt ttcagaccgc
     2701 ctcacaggca gagttccagg gtcagagagc atggagtact gtgtgtgacc ttcttccaga
     2761 agcacgggca caggagcatg ttaaaggccc tgaaaagacc agtggcaaag aaactccttt
     2821 cattttgttt aatccagagt ttttcaagct tatttaacta tagaacactt ttctgtgggt
     2881 ttcgtagcct ctttctagca cagtatagtg agtgggaaag gccctgactg agagtcaaag
     2941 attctgagca ggaaccatga tctcttcctg cctagtatgt gacttgagca agacactttt
     3001 cctctcccca ggcctctgag gtctgcgagt tttcctccac cctttcctct ccctcagttt
     3061 gcacatccta ttgactcagc tccaaatagc gggggcctgt caggagcctg actctgttca
     3121 gacaccaggg aaacaacagc acaccaggca gatgcagtta tgtccatcgg ggaacttaca
     3181 gcctagcaag gaaggcagca attcaacctg taagtctaaa agtgatgggt gtcatgaaaa
     3241 ggtaagtgca gggtgctggg agagtggttg gcaggggctt tagcctagtc tagggagagc
     3301 ccaggggcac accactgcca gcggggatag aggcttcaaa agctttgaag tcactcatat
     3361 taagagtgtt gccggacacg gtggctcatg cctgtaatcc cagcactttg ggaggctgcg
     3421 gcaggcagat tgcctgagcc cagaagttcg aggccagcct ggccaacatg acaaaaccct
     3481 gtctctacaa aaaaaaaaaa aaaaaaaaga ttaaccttat gtggtggtat gcgcctgtag
     3541 tcccagctac tttggaggct gaggtgggag tattgcttga gccaaggagg tcgaggctac
     3601 agtgagctgt gattgagcca ctgcactcca atctgtgtga cagagcaaga ccctgtctca
     3661 aaataataat aataaaatca aaaagagtgt taagggggtc tccacttaag gagtagagag
     3721 tccggggcag ttctcgtatc tctgtccttg tctcatttta gatgtttaga tatttagata
     3781 ttatacaagg ccacccagtg gtaaccaacc tagaatgtgt tggcctcctc ttcccctcac
     3841 tccgtgtagg ttctgtgcag cctggctgct ggtggcatct cttatcatgg gacattggtg
     3901 gggacccagc cgtgcccttg gtgccaagaa gcctaaaggg ctcctgtcgc ctggaaactt
     3961 gagagtgcag ggtcgggtgc tgtgccccac aaggtgctga gcaagcccaa gaagaagagt
     4021 gtggggtgtg gtgtgtgagt tcagacctct tggagctgtg ggggcatggt tcccatcagc
     4081 tgctgttcct ctgatgatgc ccactgcgtg ttgtgggagg cgtggccacc gtgtgatgtt
     4141 gtagtaggag aagggagact taggagctag acatgatacg caggcatcaa gaggtcaacc
     4201 aggtgtccac aatctgtgag ccacacagag ctctctttgt gcatatgcat cccaagcttc
     4261 aggaaggcaa cagctactag agggcctgag gacagattct tggtcgcaga agcggcattg
     4321 gctttagttc agccctcacc atgtttacca acgtcacttc tgtgttcccc tcatgggtct
     4381 cccagctccc agtctccatg ccacctccac gctgagacca gaccagtttt ccccacacac
     4441 aaatccaagc ctgtcactcc cctgcttgaa atccttccct gtctccctgt ggccttgggg
     4501 tagggcctct ctgctctgcc acctctccag actttttgta tgccaccgcc cactcacacc
     4561 cacctctcag gctccaaaca tgttctcttg cgtcagctca tcccttacac tcgctgcttc
     4621 ctctgcctgg ccagcctccc accttccgat ctcccactca ccttttttgc ctcctcatct
     4681 tttgaggtct cagctcagtg tcacttcctc ccgggagcct cgcctgtctc ttccactcca
     4741 gcttggtcag tgagcagaga ggcttgtgtg cttttctgtc gctgtaccca taagtgtcat
     4801 ctgcatgtga gcatgagggc cggcccattg tacccctaac aggggaggat gctcagcact
     4861 tcctggatgt cgaatacctg agcgataaac aactaatgtt caggaagtgc tttccaggtg
     4921 gcaaaaggtg tttcctctac tttgaagcaa gaatcttcac caatatacat gctattttat
     4981 taccccaatt tactgatgag gaaactaagc ttctgagact tcaagcgatt ttccaaggtc
     5041 atgtagggat acacaagttc cagcatgtga ttgtggtaaa ggttgtgtgt gacacatgag
     5101 tgcaaccaga gatgtgtata aagattgtta ctgggccggg cgcggtggct cacacctgta
     5161 atcccagcac tttgggaggc cgaggcaggt ggatcacgag gtcaggagat tgagaccatc
     5221 ctggctaaca cggtgaaacc ccgtctgtac taaaaataca aaaaattagc caggcgtggc
     5281 atgcgcctat agtcccagct actcgggagg ctgaggcagg agaatggtgt gaacccggga
     5341 ggcggagctt gcagggagcc aagattgtgc cactgcgctc cagcctgggc gacagagcga
     5401 gactccatct taaaaaaaat aataaaagga ttgttattga tgaccaggtg cggtggctca
     5461 tgcctgtaat cccaacactt tgggaggctg aggtgggcag atcacctgag gtcaggagtt
     5521 tgagaccatg ctggccaaca tggtgaaacc ctgtctctac tacagataga aaaattagct
     5581 gggcatggtg gtgcgcacct gtaatcccag ctacttggga ggctgaggca ggagaattgc
     5641 ttaaacccag gaggcggagg ttgcagtgag cccagatggc accactgcac tccagcctgg
     5701 gtgacagagc gagactcagt gccccccaaa aaaagatttt tattgctgca ttctctgaaa
     5761 tagcaaggaa ttaaaaactg cctgtagata cagcaattaa agtgaactcc atccgcatgt
     5821 accaatatag acgaagtcct aaaaacataa taactaagtg aaatgtacat tgtgaaagga
     5881 tagctacagt gagatacctg tacttggaaa ctgtaaaaac ccaaaataat gctaaatgct
     5941 caggaagaga cagagacaca ccagcttcaa ggatagtggt ggcctgtggt gataggtgga
     6001 agggaatggg atggggtgat ggggttttta gccatatctg tatttgtatt ttactataaa
     6061 aatacttgac ataaacatga caaaatatga acccctggta aatctgggca atgagttccc
     6121 caatgtctac tatattattt tctacctttt tctgtttttc aaatagttcc ataattaaac
     6181 atttaaaaaa aaa
//
LOCUS       NM_001031677            1588 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens RAB24, member RAS oncogene family (RAB24), transcript
            variant 1, mRNA.
ACCESSION   NM_001031677
VERSION     NM_001031677.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1588)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1588)
  AUTHORS   Seitz S, Kwon Y, Hartleben G, Julg J, Sekar R, Krahmer N, Najafi B,
            Loft A, Gancheva S, Stemmer K, Feuchtinger A, Hrabe de Angelis M,
            Muller TD, Mann M, Bluher M, Roden M, Berriel Diaz M, Behrends C,
            Gilleron J, Herzig S and Zeigerer A.
  TITLE     Hepatic Rab24 controls blood glucose homeostasis via improving
            mitochondrial plasticity
  JOURNAL   Nat Metab 1 (10), 1009-1026 (2019)
   PUBMED   32694843
  REMARK    GeneRIF: Hepatic Rab24 controls blood glucose homeostasis via
            improving mitochondrial plasticity.
REFERENCE   3  (bases 1 to 1588)
  AUTHORS   Amaya C, Militello RD, Calligaris SD and Colombo MI.
  TITLE     Rab24 interacts with the Rab7/Rab interacting lysosomal protein
            complex to regulate endosomal degradation
  JOURNAL   Traffic 17 (11), 1181-1196 (2016)
   PUBMED   27550070
  REMARK    GeneRIF: Our work provides new insights into the molecular function
            of Rab24 in the last steps of the endosomal degradative pathway.
REFERENCE   4  (bases 1 to 1588)
  AUTHORS   Militello RD, Munafo DB, Beron W, Lopez LA, Monier S, Goud B and
            Colombo MI.
  TITLE     Rab24 is required for normal cell division
  JOURNAL   Traffic 14 (5), 502-518 (2013)
   PUBMED   23387408
  REMARK    GeneRIF: Rab24 modulates several mitotic events, including
            chromosome segregation and cytokinesis, perhaps through the
            interaction with microtubules
REFERENCE   5  (bases 1 to 1588)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer
            JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1588)
  AUTHORS   Eathiraj S, Pan X, Ritacco C and Lambright DG.
  TITLE     Structural basis of family-wide Rab GTPase recognition by
            rabenosyn-5
  JOURNAL   Nature 436 (7049), 415-419 (2005)
   PUBMED   16034420
REFERENCE   7  (bases 1 to 1588)
  AUTHORS   Maltese WA, Soule G, Gunning W, Calomeni E and Alexander B.
  TITLE     Mutant Rab24 GTPase is targeted to nuclear inclusions
  JOURNAL   BMC Cell Biol 3, 25 (2002)
   PUBMED   12323076
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1588)
  AUTHORS   Erdman RA, Shellenberger KE, Overmeyer JH and Maltese WA.
  TITLE     Rab24 is an atypical member of the Rab GTPase family. Deficient
            GTPase activity, GDP dissociation inhibitor interaction, and
            prenylation of Rab24 expressed in cultured cells
  JOURNAL   J Biol Chem 275 (6), 3848-3856 (2000)
   PUBMED   10660536
REFERENCE   9  (bases 1 to 1588)
  AUTHORS   Olkkonen VM, Dupree P, Killisch I, Lutcke A, Zerial M and Simons K.
  TITLE     Molecular cloning and subcellular localization of three GTP-binding
            proteins of the rab subfamily
  JOURNAL   J Cell Sci 106 (Pt 4), 1249-1261 (1993)
   PUBMED   8126105
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.637072.1,
            SRR3476690.374624.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000303251.11/ ENSP00000304376.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA898352.1, BC021263.2, AI868941.1, AF087904.1 and AV698158.1.
            On Nov 23, 2018 this sequence version replaced NM_001031677.3.
            Summary: RAB24 is a small GTPase of the Rab subfamily of
            Ras-related proteins that regulate intracellular protein
            trafficking (Olkkonen et al., 1993 [PubMed 8126105]).[supplied by
            OMIM, Aug 2009].
            Transcript Variant: This variant (1) encodes the functional
            protein. Both variants 1 and 2 encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1588
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     gene            1..1588
                     /gene="RAB24"
                     /note="RAB24, member RAS oncogene family"
                     /db_xref="GeneID:53917"
                     /db_xref="HGNC:HGNC:9765"
                     /db_xref="MIM:612415"
     misc_feature    414..416
                     /gene="RAB24"
                     /note="upstream in-frame stop codon"
     CDS             432..1043
                     /gene="RAB24"
                     /codon_start=1
                     /product="ras-related protein Rab-24"
                     /protein_id="NP_001026847.1"
                     /db_xref="CCDS:CCDS34300.1"
                     /db_xref="GeneID:53917"
                     /db_xref="HGNC:HGNC:9765"
                     /db_xref="MIM:612415"
                     /translation="MSGQRVDVKVVMLGKEYVGKTSLVERYVHDRFLVGPYQNTIGAAF
                     VAKVMSVGDRTVTLGIWDTAGSERYEAMSRIYYRGAKAAIVCYDLTDSSSFERAKFWVK
                     ELRSLEEGCQIYLCGTKSDLLEEDRRRRRVDFHDVQDYADNIKAQLFETSSKTGQSVDE
                     LFQKVAEDYVSVAAFQVMTEDKGVDLGQKPNPYFYSCCHH"
     misc_feature    540..566
                     /gene="RAB24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969Q5.1);
                     Region: Effector region. /evidence=ECO:0000250"
     regulatory      1309..1314
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB24"
                     /note="hexamer: AATAAA"
     polyA_site      1335
                     /gene="RAB24"
                     /note="major polyA site"
     regulatory      1561..1566
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB24"
                     /note="hexamer: AATAAA"
     polyA_site      1588
                     /gene="RAB24"
ORIGIN
        1 ctctagcccc ctcccgcggg agtcgcggcg ctgcgggtag gagccgggtt gcgggagacc
       61 ccaggttcgg ttgggattcc cagccagaac ggagcttaag ccgggcaggc gagcgaatga
      121 cggagtagcg agctgcacgg cggcgtgctg cgctgttgag gacgctgtcc cgcgcgctcc
      181 caggccgccc cgaggcttgg ggtcttcgaa ggataatcgg cgcccggggc cgaacagcgg
      241 gggcacacgg ggcgctgccg aagtgcaagg ccacggccag agctcgagcc cgacgcgctg
      301 tctggagtcg taggttggcg ccgtttgggg tcggggtctg aggcttgggc gctgcctggg
      361 ccgagcggag atcggggttt gcctcccgtc cccgctcagg accctgacgt ggctgaagcg
      421 gccccgggag catgagcggg cagcgcgtgg acgtcaaggt ggtgatgctg ggcaaggagt
      481 acgtgggcaa gactagcctg gtggagcgct acgtgcacga ccgctttctg gtggggcctt
      541 atcagaacac catcggggcc gccttcgtgg ccaaggtgat gtcggtcgga gaccggactg
      601 tgacattagg tatttgggac acagcaggct ctgagcgcta tgaggccatg agtagaatct
      661 actatcgggg tgccaaggct gccatcgtct gctatgacct cacagacagc agcagctttg
      721 agcgagcaaa gttctgggtg aaggaactgc gcagcctaga ggagggctgc caaatctact
      781 tatgtggcac caagagtgac ctgctggaag aagaccggag gcgtcgacgt gtggacttcc
      841 acgacgtcca ggactatgca gacaatatca aagctcagct ctttgaaaca tccagcaaga
      901 caggccagag tgtggacgag ctcttccaga aagtggcaga ggattacgtc agtgtggctg
      961 ccttccaggt gatgacagag gacaagggcg tggatctggg ccagaagcca aacccctact
     1021 tctacagctg ttgtcatcac tgagtcagca ctcacctggc ctgggggaat taaaggaatt
     1081 ccccgtaagg gctggaccca gctcctttct gggcttgggt agtcaaatgt ctgagctacc
     1141 ccaggtcctc atgtcagcag agtggcgcct gcctgtgctg gcccatggaa cggagacagc
     1201 attgggctga ctgtgggcat gaggagggat aaggctgatt tggaccccag gcttctgccc
     1261 tggacagcac ttgtgtctgc agattattta agtggctttt gatctgtaaa taaaatcagt
     1321 gcactgtgca tcacacccag cccctttccc tgctgtgtgg attaggtgtc aagacaccta
     1381 gttcttcctg gggccacccg gctggcctca ctgcttatat taaggctcct cccaactctc
     1441 attttccttt ggaaaacaag acttttttcc ccatggttac cgctgagata ctggggctgt
     1501 agtagtataa aagctcacag ttccttctga gtgctgaaaa gagtgcatga gttgcttcga
     1561 aataaaaggg tcaagcattc ctacctga
//
LOCUS       NM_001031679            4377 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript
            variant 2, mRNA.
ACCESSION   NM_001031679
VERSION     NM_001031679.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4377)
  AUTHORS   Dai Y, Gao M, Li L, Mao Z, Xu L, Yin L, Qi Y and Peng J.
  TITLE     MicroRNA-874-3p Aggravates Doxorubicin-Induced Renal Podocyte Injury
            via Targeting Methionine Sulfoxide Reductase B3
  JOURNAL   Oxid Med Cell Longev 2020, 9481841 (2020)
   PUBMED   32908641
  REMARK    GeneRIF: MicroRNA-874-3p Aggravates Doxorubicin-Induced Renal
            Podocyte Injury via Targeting Methionine Sulfoxide Reductase B3.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4377)
  AUTHORS   Ye X, Liang T, Deng C, Li Z and Yan D.
  TITLE     MSRB3 promotes the progression of clear cell renal cell carcinoma
            via regulating endoplasmic reticulum stress
  JOURNAL   Pathol Res Pract 216 (2), 152780 (2020)
   PUBMED   31889586
  REMARK    GeneRIF: MSRB3 promotes the progression of clear cell renal cell
            carcinoma via regulating endoplasmic reticulum stress.
REFERENCE   3  (bases 1 to 4377)
  AUTHORS   Conner SC, Benayoun L, Himali JJ, Adams SL, Yang Q, DeCarli C,
            Blusztajn JK, Beiser A, Seshadri S and Delalle I.
  TITLE     Methionine Sulfoxide Reductase-B3 Risk Allele Implicated in
            Alzheimer's Disease Associates with Increased Odds for Brain
            Infarcts
  JOURNAL   J Alzheimers Dis 68 (1), 357-365 (2019)
   PUBMED   30775993
  REMARK    GeneRIF: individuals with MSRB3 rs61921502 minor allele had
            increased odds for brain infarcts on MRI compared to those with no
            minor allele
REFERENCE   4  (bases 1 to 4377)
  AUTHORS   Cao Z, Mitchell L, Hsia O, Scarpa M, Caldwell ST, Alfred AD,
            Gennaris A, Collet JF, Hartley RC and Bulleid NJ.
  TITLE     Methionine sulfoxide reductase B3 requires resolving cysteine
            residues for full activity and can act as a stereospecific
            methionine oxidase
  JOURNAL   Biochem J 475 (4), 827-838 (2018)
   PUBMED   29420254
  REMARK    GeneRIF: we characterise the mammalian enzyme Msr B3. There are two
            splice variants of this enzyme that differ only in their N-terminal
            signal sequence, which directs the protein to either the endoplasmic
            reticulum (ER) or mitochondria Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4377)
  AUTHORS   Adams SL, Benayoun L, Tilton K, Chavez OR, Himali JJ, Blusztajn JK,
            Seshadri S and Delalle I.
  TITLE     Methionine Sulfoxide Reductase-B3 (MsrB3) Protein Associates with
            Synaptic Vesicles and its Expression Changes in the Hippocampi of
            Alzheimer's Disease Patients
  JOURNAL   J Alzheimers Dis 60 (1), 43-56 (2017)
   PUBMED   28777754
  REMARK    GeneRIF: This characterization of GWAS-implicated MSRB3 protein
            expression in human hippocampus suggests that patterns of neuronal
            and vascular MsrB3 protein expression reflect or underlie pathology
            associated with Alzheimer disease.
REFERENCE   6  (bases 1 to 4377)
  AUTHORS   Kwak GH, Choi SH, Kim JR and Kim HY.
  TITLE     Inhibition of methionine sulfoxide reduction by dimethyl sulfoxide
  JOURNAL   BMB Rep 42 (9), 580-585 (2009)
   PUBMED   19788859
REFERENCE   7  (bases 1 to 4377)
  AUTHORS   Waryah AM, Rehman A, Ahmed ZM, Bashir ZH, Khan SY, Zafar AU,
            Riazuddin S, Friedman TB and Riazuddin S.
  TITLE     DFNB74, a novel autosomal recessive nonsyndromic hearing impairment
            locus on chromosome 12q14.2-q15
  JOURNAL   Clin Genet 76 (3), 270-275 (2009)
   PUBMED   19650862
REFERENCE   8  (bases 1 to 4377)
  AUTHORS   Taungjaruwinai WM, Bhawan J, Keady M and Thiele JJ.
  TITLE     Differential expression of the antioxidant repair enzyme methionine
            sulfoxide reductase (MSRA and MSRB) in human skin
  JOURNAL   Am J Dermatopathol 31 (5), 427-431 (2009)
   PUBMED   19542914
REFERENCE   9  (bases 1 to 4377)
  AUTHORS   Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L, Brenton
            M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard A, Glueck
            D, McGavran L, Berry R, Pollack J and Sikela JM.
  TITLE     Lineage-specific gene duplication and loss in human and great ape
            evolution
  JOURNAL   PLoS Biol 2 (7), E207 (2004)
   PUBMED   15252450
REFERENCE   10  (bases 1 to 4377)
  AUTHORS   Kim HY and Gladyshev VN.
  TITLE     Methionine sulfoxide reduction in mammals: characterization of
            methionine-R-sulfoxide reductases
  JOURNAL   Mol Biol Cell 15 (3), 1055-1064 (2004)
   PUBMED   14699060
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX648776.1, SRR1660805.147465.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000308259.10/ ENSP00000312274.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK293084.1, AY358229.1,
            AC025419.42 and BX648776.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001031679.2.
            Summary: The protein encoded by this gene catalyzes the reduction
            of methionine sulfoxide to methionine. This enzyme acts as a
            monomer and requires zinc as a cofactor. Several transcript
            variants encoding two different isoforms have been found for this
            gene. One of the isoforms localizes to mitochondria while the other
            localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010].
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (2)
            has a shorter and distinct N-terminus compared to isoform 1.
            Variants 2, 3, and 4 all encode isoform 2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4377
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.3"
     gene            1..4377
                     /gene="MSRB3"
                     /gene_synonym="DFNB74"
                     /note="methionine sulfoxide reductase B3"
                     /db_xref="GeneID:253827"
                     /db_xref="HGNC:HGNC:27375"
                     /db_xref="MIM:613719"
     misc_feature    88..90
                     /gene="MSRB3"
                     /gene_synonym="DFNB74"
                     /note="upstream in-frame stop codon"
     CDS             235..792
                     /gene="MSRB3"
                     /gene_synonym="DFNB74"
                     /EC_number="1.8.4.12"
                     /EC_number="1.8.4.14"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; methionine-R-sulfoxide reductase B3, mitochondrial"
                     /codon_start=1
                     /product="methionine-R-sulfoxide reductase B3 isoform 2
                     precursor"
                     /protein_id="NP_001026849.1"
                     /db_xref="CCDS:CCDS31853.1"
                     /db_xref="GeneID:253827"
                     /db_xref="HGNC:HGNC:27375"
                     /db_xref="MIM:613719"
                     /translation="MSAFNLLHLVTKSQPVALRACGLPSGSCRDKKNCKVVFSQQELRK
                     RLTPLQYHVTQEKGTESAFEGEYTHHKDPGIYKCVVCGTPLFKSETKFDSGSGWPSFHD
                     VINSEAITFTDDFSYGMHRVETSCSQCGAHLGHIFDDGPRPTGKRYCINSAALSFTPAD
                     SSGTAEGGSGVASPAQADKAEL"
     sig_peptide     235..294
                     /gene="MSRB3"
                     /gene_synonym="DFNB74"
                     /inference="protein motif:SignalP:3.0"
                     /note="The cleavage site of the signal peptide has not been
                     experimentally determined."
     regulatory      4355..4360
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSRB3"
                     /gene_synonym="DFNB74"
                     /note="hexamer: AATAAA"
     polyA_site      4377
                     /gene="MSRB3"
                     /gene_synonym="DFNB74"
                     /note="major polyA site"
ORIGIN
        1 atgcctcccg ccgccccgtc cgtcgcccgg agccggggag ggagggagcg aggttcggac
       61 accggcggcg gctgcctggc ctttccatga gcccgcggcg gaccctcccg cgccccctct
      121 cgctctgcct ctccctctgc ctctgcctct gcctggccgc ggctctggga agtgcgcagt
      181 ccgctcttgc ccctgttctt tgcttctcgt tttgttggtg aagatatcac agtgatgtct
      241 gcattcaacc tgctgcattt ggtgacaaag agccagccag tagcccttcg agcctgtggg
      301 cttccctcag ggtcgtgtag ggataaaaag aactgtaagg tggtcttttc ccagcaggaa
      361 ctgaggaagc ggctaacacc cctgcagtac catgtcactc aggagaaagg gaccgaaagt
      421 gcctttgaag gagaatacac acatcacaaa gatcctggaa tatataaatg tgttgtttgt
      481 ggaactccat tgtttaagtc agaaaccaaa tttgactccg gttcaggttg gccttcattc
      541 cacgatgtga tcaattctga ggcaatcaca ttcacagatg acttttccta tgggatgcac
      601 agggtggaaa caagctgctc tcagtgtggt gctcaccttg ggcacatttt tgatgatggg
      661 cctcgtccaa ctgggaaaag atactgcata aattcggctg ccttgtcttt tacacctgcg
      721 gatagcagtg gcaccgccga gggaggcagt ggggtcgcca gcccggccca ggcagacaaa
      781 gcggagctct agagtaatgg agagtgatgg aaacaaagtg tacttaatgc acagcttatt
      841 aaaaaaatca aaattgttat cttaatagat atattttttc aaaaactata agggcagttt
      901 tgtgctattg atattttttc ttcttttgct taaacagaag ccctggccat ccatgtattt
      961 tgcaattgac tagatcaaga actgtttata gctttagcaa atggagacag ctttgtgaaa
     1021 cttcttcaca agccacttat accctttggc attcttttct ttgagcacat ggcttctttt
     1081 gcagtttttc cccctttgat tcagaagcag agggttcatg gtcttcaaac atgaaaatag
     1141 agatctcctc tgcagtgtag agaccagagc tgggcagtgc agggcatgga gacctgcaag
     1201 acacatggcc ttgaggcctt tgcacagacc cacctaagat aaggttggag tgatgtttta
     1261 atgagactgt tcagctttgt ggaaagtttg agctaaggtc attttttttt ttctcactga
     1321 aagggtgtga aggtctaaag tctttcctta tgttaaattg ttgccagatc caaaggggca
     1381 tactgagtgt tgtggcagag aagtaaacat taccacactg ttaggccttt attttatttt
     1441 attttccatc gaaagcattg gaggcccagt gcaatggctc acgcctgtga tcccagcact
     1501 ttgggaggcc aaggcgggtg gatcacgagg tcaggagatg gagaccatcc tggctaacat
     1561 ggtgaaaccc cgtctctact aaaaatacga aaaattagcc aggcgtggtg gtgggcacct
     1621 gtagtcccag ctactcagga ggctgaggca ggagaatggc gtgaacccgg aaggcggagc
     1681 ttgcagttag ccgagatcat gccactgcac tccagcctac atgacaatgt gacactccat
     1741 ctcaaaaaat aataataata acaatataag aactagctgg gcatggtggc gcatgcatgt
     1801 agtcccagct actcctgagg ctcagtcagg agaatcgctt gaacttggga ggcggaggtt
     1861 gcagtgagct gagctcatac cactgcactc cagcctgaac agagtgagat cctgtcaaaa
     1921 aagaaaagaa aaagaaagca gcattcaaat gtaagacaac tgtaaaatat tgagccccac
     1981 ttggtctaaa attcaaaaag aagaacgcct gtccatcgcc tttttataag tccttctctc
     2041 cacacctaaa agcagctgca gctggaaggg cacaaattcc actgtgtaaa ataaaatatt
     2101 aggggcaaca cacttcatca aggcagcagg aatgagagag agcagagaag atcaaggatg
     2161 aagtcttggg tactgaaaaa ttcagtgctg ggcagaaaaa ctgacagggc agtacaagta
     2221 acaaacagaa tccaagtggg gtggcccttg tgcacagagc tccaggtgac ctctggagag
     2281 acatgggcat tcacatggaa agctaaaacg gaagctcaag tttcatactc aacataatct
     2341 tctgtgtgac aaaggacaag ccatgtagcc tctctgtgcc tatttcttca tgcataaact
     2401 gggactcata atatttgtaa aatgtattga tactctcagg gcaaattcac tatattgcta
     2461 tacagttgag atcagtgttg taaaattaaa ctgatctggt tctaattgcc tcaaaggcca
     2521 aagcccaggc atttgaaatg gaaagaagca gagaggaggc tgacttagct gattggtatg
     2581 gaaacagttg ggccaagagc cagaatttcc ctttgtagca acacggctag ttttactttg
     2641 agaagctctg ctcagctgct ttataacatt aagtctggcg gaatggatgt cactgtgcac
     2701 aataaagttt tcacaagtat aaacaatggt gatgtaagtc aacattgctg tagccaggtg
     2761 tgaaggttgt atggtgtgtg acgaatgtac atcatgtttg taggtttgga tgctaatctt
     2821 gaattgtagt ttaaaaaata cgtatttttg taactctttg aaagtttatg aagactgaca
     2881 gctttccttg taagcactaa gagaaaaaaa agaaagaggg acatttgaca attttaaaga
     2941 aacaacaaga aattagaatg aaaatctgtg acaaacagcg tcagtgtggc catgtccaca
     3001 ttcctacatg tctctctcta caagcacctc tctaagaagc ctgacatccc ggtggactct
     3061 ttatagtcat gtacacttga ttccagatga gctctggtct tatctggatg ctcagataag
     3121 aggtttctat ctgagcatcc agatgttccc tcaggttcca agacatttca ccccaggccc
     3181 tgggttcact ctggaattcg taggcttcac gtctctctag aaatgacgtg taaaatttaa
     3241 gaccagacct cagccatcag cgtccagacc atcctagaag tctttcccaa tctcacagag
     3301 aaagccctag tatttcccag tgaccccagg attccacgtt ggggtggcca aagaaatagg
     3361 tctctcaggg ctttgccaca gcctccagcc catccttcag aggcacacac agcacctctc
     3421 ggctgctcca gctctgtagg atagcctccc ctggggtccg tgggacgcgg gccacagtgt
     3481 tgaggtagac aaggaggatc agtgagaggc ctcttccctc tccacagaga ctggattgtc
     3541 attgttcctt catttatatc gtagggctta acatttcact caaaaaaaag cccctctttt
     3601 tctaatcctt agtctttgtt tcaaggaaag ccagtttttc ttctaccaca ttttccagga
     3661 tcgactttaa gaaaaatgca acatctattg aaaaaaagtg gggtgtatgc atgtggttta
     3721 attccagatt gcttttgggt ttaagtggta tcaaatttca gtatatttct gtcttatgtg
     3781 aaagaaatat attactaaaa cgtcagtgag caataatgtc agctgtcaag cactagattt
     3841 atttttgcag gatatggagt gcaatgaact gagtcaatat ggcaaggtgt atgtgatctg
     3901 tgggagttat gccatttaac ataggaagtg catgggactt tccctctctg cactccagct
     3961 cttactgtac cattagaaga tgcagaattc tgttggtgtg caaaaagtat agccttacat
     4021 tcaagcagaa tggatctgaa gaaagcagca atatctgtta ctagagaaca ttcccatgtg
     4081 tttaaactct tcacttctta gatgcattta aattcttaat gcaaatgacg tagcaatttg
     4141 aaaacttctc cgtattactt gtgtttaaaa tgtcttgctt taaatacaaa acaaatggta
     4201 aaggggatta tcttttgttt agatggttaa atattatttt tgccttagat agctttgtaa
     4261 taatttttct ccagacagtt caacactttt gaaaaatgac atgaattttc attaaaaacc
     4321 cttttcctat gtttattgta tacaagaatt atgcaataaa atttctttat aaaaata
//
LOCUS       NM_001031684            2356 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens serine and arginine rich splicing factor 7 (SRSF7),
            transcript variant 1, mRNA.
ACCESSION   NM_001031684
VERSION     NM_001031684.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2356)
  AUTHORS   Weidman T, Nagengast AA and DiAngelo JR.
  TITLE     The splicing factor 9G8 regulates the expression of NADPH-producing
            enzyme genes in Drosophila
  JOURNAL   Biochem Biophys Res Commun 620, 92-97 (2022)
   PUBMED   35780586
  REMARK    GeneRIF: The splicing factor 9G8 regulates the expression of
            NADPH-producing enzyme genes in Drosophila.
REFERENCE   2  (bases 1 to 2356)
  AUTHORS   Khan M, Hou S, Azam S and Lei H.
  TITLE     Sequence-dependent recruitment of SRSF1 and SRSF7 to intronless
            lncRNA NKILA promotes nuclear export via the TREX/TAP pathway
  JOURNAL   Nucleic Acids Res 49 (11), 6420-6436 (2021)
   PUBMED   34096602
  REMARK    GeneRIF: Sequence-dependent recruitment of SRSF1 and SRSF7 to
            intronless lncRNA NKILA promotes nuclear export via the TREX/TAP
            pathway.
REFERENCE   3  (bases 1 to 2356)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2356)
  AUTHORS   Song J, Su ZZ and Shen QM.
  TITLE     Long non-coding RNA MALAT1 regulates proliferation, apoptosis,
            migration and invasion via miR-374b-5p/SRSF7 axis in non-small cell
            lung cancer
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (4), 1853-1862 (2020)
   PUBMED   32141554
  REMARK    GeneRIF: Long non-coding RNA MALAT1 regulates proliferation,
            apoptosis, migration and invasion via miR-374b-5p/SRSF7 axis in
            non-small cell lung cancer.
REFERENCE   5  (bases 1 to 2356)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2356)
  AUTHORS   Venables JP, Elliott DJ, Makarova OV, Makarov EM, Cooke HJ and
            Eperon IC.
  TITLE     RBMY, a probable human spermatogenesis factor, and other hnRNP G
            proteins interact with Tra2beta and affect splicing
  JOURNAL   Hum Mol Genet 9 (5), 685-694 (2000)
   PUBMED   10749975
REFERENCE   7  (bases 1 to 2356)
  AUTHORS   Yuan Y, Li DM and Sun H.
  TITLE     PIR1, a novel phosphatase that exhibits high affinity to RNA .
            ribonucleoprotein complexes
  JOURNAL   J Biol Chem 273 (32), 20347-20353 (1998)
   PUBMED   9685386
REFERENCE   8  (bases 1 to 2356)
  AUTHORS   Funke B, Zuleger B, Benavente R, Schuster T, Goller M, Stevenin J
            and Horak I.
  TITLE     The mouse poly(C)-binding protein exists in multiple isoforms and
            interacts with several RNA-binding proteins
  JOURNAL   Nucleic Acids Res 24 (19), 3821-3828 (1996)
   PUBMED   8871564
REFERENCE   9  (bases 1 to 2356)
  AUTHORS   Popielarz M, Cavaloc Y, Mattei MG, Gattoni R and Stevenin J.
  TITLE     The gene encoding human splicing factor 9G8. Structure, chromosomal
            localization, and expression of alternatively processed transcripts
  JOURNAL   J Biol Chem 270 (30), 17830-17835 (1995)
   PUBMED   7629084
REFERENCE   10  (bases 1 to 2356)
  AUTHORS   Cavaloc Y, Popielarz M, Fuchs JP, Gattoni R and Stevenin J.
  TITLE     Characterization and cloning of the human splicing factor 9G8: a
            novel 35 kDa factor of the serine/arginine protein family
  JOURNAL   EMBO J 13 (11), 2639-2649 (1994)
   PUBMED   8013463
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.61151.1, BC022328.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467144,
            SAMEA2467150 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000313117.11/ ENSP00000325905.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY166860.1 and AC074366.6.
            On Nov 22, 2018 this sequence version replaced NM_001031684.2.
            Summary: The protein encoded by this gene is a member of the
            serine/arginine (SR)-rich family of pre-mRNA splicing factors,
            which constitute part of the spliceosome. Each of these factors
            contains an N-terminal RNA recognition motif (RRM) for binding RNA
            and a C-terminal RS domain for binding other proteins. The RS
            domain is rich in serine and arginine residues and facilitates
            interaction between different SR splicing factors. In addition to
            being critical for mRNA splicing, the SR proteins have also been
            shown to be involved in mRNA export from the nucleus and in
            translation. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, May
            2018].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2356
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.1"
     gene            1..2356
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="serine and arginine rich splicing factor 7"
                     /db_xref="GeneID:6432"
                     /db_xref="HGNC:HGNC:10789"
                     /db_xref="MIM:600572"
     CDS             106..822
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="isoform 1 is encoded by transcript variant 1;
                     splicing factor, arginine/serine-rich 7, 35kDa; SR splicing
                     factor 7; aging-associated protein 3; splicing factor 9G8;
                     serine/arginine-rich splicing factor 7"
                     /codon_start=1
                     /product="serine/arginine-rich splicing factor 7 isoform 1"
                     /protein_id="NP_001026854.1"
                     /db_xref="CCDS:CCDS33183.1"
                     /db_xref="GeneID:6432"
                     /db_xref="HGNC:HGNC:10789"
                     /db_xref="MIM:600572"
                     /translation="MSRYGRYGGETKVYVGNLGTGAGKGELERAFSYYGPLRTVWIARN
                     PPGFAFVEFEDPRDAEDAVRGLDGKVICGSRVRVELSTGMPRRSRFDRPPARRPFDPND
                     RCYECGEKGHYAYDCHRYSRRRRSRSRSRSHSRSRGRRYSRSRSRSRGRRSRSASPRRS
                     RSISLRRSRSASLRRSRSGSIKGSRYFQSPSRSRSRSRSISRPRSSRSKSRSPSPKRSR
                     SPSGSPRRSASPERMD"
     misc_feature    175..177
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q16629.1); acetylation site"
     misc_feature    199..201
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q16629.1); phosphorylation site"
     misc_feature    346..399
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16629.1);
                     Region: Sufficient for interaction with NXF1"
     misc_feature    472..819
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16629.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    562..783
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q16629.1);
                     Region: 6 X 8 AA repeats of R-R-S-R-S-X-S-X"
     misc_feature    592..594
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q16629.1); phosphorylation site"
     misc_feature    598..600
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q16629.1); phosphorylation site"
     misc_feature    604..606
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q16629.1); phosphorylation site"
     misc_feature    646..648
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BL97; propagated from
                     UniProtKB/Swiss-Prot (Q16629.1); phosphorylation site"
     misc_feature    652..654
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BL97; propagated from
                     UniProtKB/Swiss-Prot (Q16629.1); phosphorylation site"
     misc_feature    679..681
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q16629.1); phosphorylation site"
     misc_feature    685..687
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q16629.1); phosphorylation site"
     misc_feature    691..693
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q16629.1); phosphorylation site"
     misc_feature    796..798
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q16629.1); phosphorylation site"
     misc_feature    802..804
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q16629.1); phosphorylation site"
     regulatory      1042..1047
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="hexamer: AATAAA"
     polyA_site      1062
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="major polyA site"
     regulatory      2329..2334
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
                     /note="hexamer: AATAAA"
     polyA_site      2356
                     /gene="SRSF7"
                     /gene_synonym="9G8; AAG3; SFRS7"
ORIGIN
        1 gtagtgccgc cgggactctt ggcgggtgaa ggtgtgtgtc agcttttgcg tcactcgagc
       61 cctgggcgct gcttgctaaa gagccgagca cgcgggtctg tcatcatgtc gcgttacggg
      121 cggtacggag gagaaaccaa ggtgtatgtt ggtaacctgg gaactggcgc tggcaaagga
      181 gagttagaaa gggctttcag ttattatggt cctttaagaa ctgtatggat tgcgagaaat
      241 cctccaggat ttgcctttgt ggaattcgaa gatcctagag atgcagaaga tgcagtacga
      301 ggactggatg gaaaggtgat ttgtggctcc cgagtgaggg ttgaactatc gacaggcatg
      361 cctcggagat cacgttttga tagaccacct gcccgacgtc cctttgatcc aaatgataga
      421 tgctatgagt gtggcgaaaa gggacattat gcttatgatt gtcatcgtta cagccggcga
      481 agaagaagca ggtcacggtc tagatcacat tctcgatcca gaggaaggcg atactctcgc
      541 tcacgcagca ggagcagggg acgaaggtca aggtcagcat ctcctcgacg atcaagatct
      601 atctctcttc gtagatcaag atcagcttca ctcagaagat ctaggtctgg ttctataaaa
      661 ggatcgaggt atttccaatc cccgtcgagg tcaagatcaa gatccaggtc tatttcacga
      721 ccaagaagca gccgatcaaa gtccagatct ccatctccaa aaagaagtcg ttccccatca
      781 ggaagtcctc gcagaagtgc aagtcctgaa agaatggact gaagctctca agttcaccct
      841 ttagggaaaa gttattttgt ttacattatt ataagggatt tgtgatgtct gtaaagtgta
      901 acctaggaaa gataattcaa ccatctaatc aaaatggatc tggattacta tgtaaattca
      961 cagcagtaag ataatataaa ttttgttgaa tgtattaaca tcatatggtc tgaaaatgtg
     1021 ggtttttatt tggcacattt aaataaaatg tttctaacta gatttttgat ttgtgttcaa
     1081 tattaacact tcttaatttg atatatttga gagtcagaca ttataattgt taaccttatt
     1141 catacatacc tacattcaga attgaaaggt gttggttaag tcttgaacat cactattcta
     1201 tgcataaaac ttggccagga tcttaaggga ctttgaaaat tccatcttac ccttgtagct
     1261 ctgggtaaga tgacctgagt cccttatgat acagcctgaa tgcatcatga cagatcctta
     1321 agttagctaa tccgtttgaa gttggtgtta gtaggtattg tatgatcagt ggtgaagcaa
     1381 gtaggaccac tgatgtgtct aaatgagcat gacaggaact aaacgaaact gattaaatgt
     1441 atgagaaata gaaacatttc tggatgatct ttatactaat tgcagctttc aggctactag
     1501 gtggcatagt gttaattagg actccccaag atatggggag ttctactctc aatggtcttg
     1561 tttctttgct ttctacatta gttaaccagt tttataccaa aaaatgcatg tttgaggaat
     1621 tgtctgaaat tgggacaaaa caccttcatg taaaccagct ttgcaaaatt ttccagccca
     1681 gatactcttc atctattcaa atggattgtc ttattctgag caaagacctg ttgttaatct
     1741 tcaagctagg ttttgcagtt cccaaccaca acattcttct attttgccag gctggtgcaa
     1801 agtaattaaa gatgtcaatc agaaatgtca atgagactaa agtggttttg taaatctcag
     1861 ctatatttag caacactcca tgtagctaat attttttggt agcatctggt agaccttaga
     1921 atgttacata gccagtaggt tctttattca aattttaagt atcttaagaa tagtagggca
     1981 gtaacagtta cttttgagag ttttctggtc aagcttttac caggcattct ctagccttgg
     2041 tacaaaaaaa aaaaaacctg ctggttgcgc agatacctag gcttgtccat tttatgcatt
     2101 tcagcaaagt cattggatac tattgcaact tgggaatact ggtctgcatc aagtttattc
     2161 ggtagtttga ccgctagtat gttggaagtt atttggattg tttttggaat tttgactggc
     2221 tgaattatgg ttggtataaa gttatgtgta taactggcag gcttatttat ctgttgcact
     2281 tggttagctt taattgttct gtattattta aagataagtt tactcaacaa taaatctgca
     2341 gagattgaac aaataa
//
LOCUS       NM_001031685            4632 bp    mRNA    linear   PRI 26-JUL-2023
DEFINITION  Homo sapiens tumor protein p53 binding protein 2 (TP53BP2),
            transcript variant 1, mRNA.
ACCESSION   NM_001031685
VERSION     NM_001031685.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4632)
  AUTHORS   Wang Y, Yan Y, Huo Y, Pang Y, Chan L, Wang S, Chen D, Lin D and Wang
            W.
  TITLE     mRNA sequencing and CyTOF analysis revealed ASPP2 altered the
            response patterns of hepatocellular carcinoma HepG2 cells to usnic
            acid
  JOURNAL   Naunyn Schmiedebergs Arch Pharmacol 396 (8), 1847-1856 (2023)
   PUBMED   36877271
  REMARK    GeneRIF: mRNA sequencing and CyTOF analysis revealed ASPP2 altered
            the response patterns of hepatocellular carcinoma HepG2 cells to
            usnic acid.
REFERENCE   2  (bases 1 to 4632)
  AUTHORS   Tsintari V, Walter B, Fend F, Overkamp M, Rothermundt C, Lopez CD,
            Schittenhelm MM and Kampa-Schittenhelm KM.
  TITLE     Alternative splicing of Apoptosis Stimulating Protein of TP53-2
            (ASPP2) results in an oncogenic isoform promoting migration and
            therapy resistance in soft tissue sarcoma (STS)
  JOURNAL   BMC Cancer 22 (1), 725 (2022)
   PUBMED   35780096
  REMARK    GeneRIF: Alternative splicing of Apoptosis Stimulating Protein of
            TP53-2 (ASPP2) results in an oncogenic isoform promoting migration
            and therapy resistance in soft tissue sarcoma (STS). Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 4632)
  AUTHORS   Royer C, Sandham E, Slee E, Schneider F, Lagerholm CB, Godwin J,
            Veits N, Hathrell H, Zhou F, Leonavicius K, Garratt J, Narendra T,
            Vincent A, Jones C, Child T, Coward K, Graham C, Fritzsche M, Lu X
            and Srinivas S.
  TITLE     ASPP2 maintains the integrity of mechanically stressed
            pseudostratified epithelia during morphogenesis
  JOURNAL   Nat Commun 13 (1), 941 (2022)
   PUBMED   35177595
  REMARK    GeneRIF: ASPP2 maintains the integrity of mechanically stressed
            pseudostratified epithelia during morphogenesis. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 4632)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   5  (bases 1 to 4632)
  AUTHORS   Takahashi N, Kobayashi S, Jiang X, Kitagori K, Imai K, Hibi Y and
            Okamoto T.
  TITLE     Expression of 53BP2 and ASPP2 proteins from TP53BP2 gene by
            alternative splicing
  JOURNAL   Biochem Biophys Res Commun 315 (2), 434-438 (2004)
   PUBMED   14766226
  REMARK    GeneRIF: TP53BP2 encodes two mRNA species, either with (53BP2) or
            without exon 3 (ASPP2), by alternative splicing in various cell
            lines and tissues
REFERENCE   6  (bases 1 to 4632)
  AUTHORS   Pirozzi G, McConnell SJ, Uveges AJ, Carter JM, Sparks AB, Kay BK and
            Fowlkes DM.
  TITLE     Identification of novel human WW domain-containing proteins by
            cloning of ligand targets
  JOURNAL   J Biol Chem 272 (23), 14611-14616 (1997)
   PUBMED   9169421
REFERENCE   7  (bases 1 to 4632)
  AUTHORS   Gorina S and Pavletich NP.
  TITLE     Structure of the p53 tumor suppressor bound to the ankyrin and SH3
            domains of 53BP2
  JOURNAL   Science 274 (5289), 1001-1005 (1996)
   PUBMED   8875926
REFERENCE   8  (bases 1 to 4632)
  AUTHORS   Naumovski L and Cleary ML.
  TITLE     The p53-binding protein 53BP2 also interacts with Bc12 and impedes
            cell cycle progression at G2/M
  JOURNAL   Mol Cell Biol 16 (7), 3884-3892 (1996)
   PUBMED   8668206
REFERENCE   9  (bases 1 to 4632)
  AUTHORS   Helps NR, Barker HM, Elledge SJ and Cohen PT.
  TITLE     Protein phosphatase 1 interacts with p53BP2, a protein which binds
            to the tumour suppressor p53
  JOURNAL   FEBS Lett 377 (3), 295-300 (1995)
   PUBMED   8549741
REFERENCE   10  (bases 1 to 4632)
  AUTHORS   Iwabuchi K, Bartel PL, Li B, Marraccino R and Fields S.
  TITLE     Two cellular proteins that bind to wild-type but not mutant p53
  JOURNAL   Proc Natl Acad Sci U S A 91 (13), 6098-6102 (1994)
   PUBMED   8016121
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC058918.1, AJ318888.2 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000343537.12/ ENSP00000341957.7
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX425756.2, BC058918.1,
            AA961496.1 and AI042183.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001031685.2.
            Summary: This gene encodes a member of the ASPP
            (apoptosis-stimulating protein of p53) family of p53 interacting
            proteins. The protein contains four ankyrin repeats and an SH3
            domain involved in protein-protein interactions. It is localized to
            the perinuclear region of the cytoplasm, and regulates apoptosis
            and cell growth through interactions with other regulatory
            molecules including members of the p53 family. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer isoform (1), also known as 53BP2L
            or long.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4632
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q41"
     gene            1..4632
                     /gene="TP53BP2"
                     /gene_synonym="53BP2; ASPP2; BBP; P53BP2; PPP1R13A"
                     /note="tumor protein p53 binding protein 2"
                     /db_xref="GeneID:7159"
                     /db_xref="HGNC:HGNC:12000"
                     /db_xref="MIM:602143"
     CDS             268..3672
                     /gene="TP53BP2"
                     /gene_synonym="53BP2; ASPP2; BBP; P53BP2; PPP1R13A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     BCL2-binding protein; tumor suppressor p53-binding protein
                     2; apoptosis-stimulating protein of p53, 2; renal carcinoma
                     antigen NY-REN-51"
                     /codon_start=1
                     /product="apoptosis-stimulating of p53 protein 2 isoform 1"
                     /protein_id="NP_001026855.2"
                     /db_xref="CCDS:CCDS44319.1"
                     /db_xref="GeneID:7159"
                     /db_xref="HGNC:HGNC:12000"
                     /db_xref="MIM:602143"
                     /translation="MRFGSKMMPMFLTVYLSNNEQHFTEVPVTPETICRDVVDLCKEPG
                     ESDCHLAEVWCGSERPVADNERMFDVLQRFGSQRNEVRFFLRHERPPGRDIVSGPRSQD
                     PSLKRNGVKVPGEYRRKENGVNSPRMDLTLAELQEMASRQQQQIEAQQQLLATKEQRLK
                     FLKQQDQRQQQQVAEQEKLKRLKEIAENQEAKLKKVRALKGHVEQKRLSNGKLVEEIEQ
                     MNNLFQQKQRELVLAVSKVEELTRQLEMLKNGRIDSHHDNQSAVAELDRLYKELQLRNK
                     LNQEQNAKLQQQRECLNKRNSEVAVMDKRVNELRDRLWKKKAALQQKENLPVSSDGNLP
                     QQAASAPSRVAAVGPYIQSSTMPRMPSRPELLVKPALPDGSLVIQASEGPMKIQTLPNM
                     RSGAASQTKGSKIHPVGPDWSPSNADLFPSQGSASVPQSTGNALDQVDDGEVPLREKEK
                     KVRPFSMFDAVDQSNAPPSFGTLRKNQSSEDILRDAQVANKNVAKVPPPVPTKPKQINL
                     PYFGQTNQPPSDIKPDGSSQQLSTVVPSMGTKPKPAGQQPRVLLSPSIPSVGQDQTLSP
                     GSKQESPPAAAVRPFTPQPSKDTLLPPFRKPQTVAASSIYSMYTQQQAPGKNFQQAVQS
                     ALTKTHTRGPHFSSVYGKPVIAAAQNQQQHPENIYSNSQGKPGSPEPETEPVSSVQENH
                     ENERIPRPLSPTKLLPFLSNPYRNQSDADLEALRKKLSNAPRPLKKRSSITEPEGPNGP
                     NIQKLLYQRTTIAAMETISVPSYPSKSASVTASSESPVEIQNPYLHVEPEKEVVSLVPE
                     SLSPEDVGNASTENSDMPAPSPGLDYEPEGVPDNSPNLQNNPEEPNPEAPHVLDVYLEE
                     YPPYPPPPYPSGEPEGPGEDSVSMRPPEITGQVSLPPGKRTNLRKTGSERIAHGMRVKF
                     NPLALLLDSSLEGEFDLVQRIIYEVDDPSLPNDEGITALHNAVCAGHTEIVKFLVQFGV
                     NVNAADSDGWTPLHCAASCNNVQVCKFLVESGAAVFAMTYSDMQTAADKCEEMEEGYTQ
                     CSQFLYGVQEKMGIMNKGVIYALWDYEPQNDDELPMKEGDCMTIIHREDEDEIEWWWAR
                     LNDKEGYVPRNLLGLYPRIKPRQRSLA"
     regulatory      4419..4424
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TP53BP2"
                     /gene_synonym="53BP2; ASPP2; BBP; P53BP2; PPP1R13A"
                     /note="hexamer: AATAAA"
     polyA_site      4437
                     /gene="TP53BP2"
                     /gene_synonym="53BP2; ASPP2; BBP; P53BP2; PPP1R13A"
                     /note="major polyA site"
     regulatory      4606..4611
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TP53BP2"
                     /gene_synonym="53BP2; ASPP2; BBP; P53BP2; PPP1R13A"
                     /note="hexamer: AATAAA"
     polyA_site      4632
                     /gene="TP53BP2"
                     /gene_synonym="53BP2; ASPP2; BBP; P53BP2; PPP1R13A"
ORIGIN
        1 ggtttcggag cggaggaggg agccccgacc gtcacgagcg tcgaagagac aaagccgcgt
       61 cagggggccc ggccggggcg ggggagcccg gggcttgttg gtgccccagc ccgcgcggag
      121 ggcccttcgg acccgcgcgc cgccgctgcc gccgccgccg cctcgcaaca ggtccgggcg
      181 gcctcgctct ccgctcccct cccccgcatc cgcgaccctc cggggcacct cagctcggcc
      241 ggggccgcag tctggccacc cgcttccatg cggttcgggt ccaagatgat gccgatgttt
      301 cttaccgtgt atctcagtaa caatgagcag cacttcacag aagttccagt tactccagaa
      361 acaatatgca gagacgtggt ggatctgtgc aaagaacccg gcgagagtga ttgccatttg
      421 gctgaagtgt ggtgtggctc tgaacgtcca gttgcggata atgagcgaat gtttgatgtt
      481 cttcaacgat ttggaagtca gaggaacgaa gttcgcttct tccttcgtca tgaacgcccc
      541 cctggcaggg acattgtgag tggaccaaga tctcaggatc caagtttaaa aagaaatggt
      601 gtaaaagttc ctggtgaata tcgaagaaag gagaacggtg ttaatagtcc taggatggat
      661 ctgactcttg ctgaacttca ggaaatggca tctcgccagc agcaacagat tgaagcccag
      721 caacaattgc tggcaactaa ggaacagcgc ttaaagtttt tgaaacaaca agatcagcga
      781 caacagcaac aagttgctga gcaggagaaa cttaaaaggc taaaagaaat agctgagaat
      841 caggaagcta agctaaaaaa agtgagagca cttaaaggcc acgtggaaca gaagagacta
      901 agcaatggga aacttgtgga ggaaattgaa cagatgaata atttgttcca gcaaaaacag
      961 agggagctcg tcctggctgt gtcaaaagta gaagaactga ccaggcagct agagatgctc
     1021 aagaacggca ggatcgacag ccaccatgac aatcagtctg cagtggctga gcttgatcgc
     1081 ctctataagg agctgcagct aagaaacaaa ttgaatcaag agcagaatgc caagctacaa
     1141 caacagaggg agtgtttgaa taagcgtaat tcagaagtgg cagtcatgga taagcgtgtt
     1201 aatgagctga gggaccggct gtggaagaag aaggcagctc tacagcaaaa agaaaatcta
     1261 ccagtttcat ctgatggaaa tcttccccag caagccgcgt cagccccaag ccgtgtggct
     1321 gcagtaggtc cctatatcca gtcgtctact atgcctcgga tgccctcaag gcctgaattg
     1381 ctggtgaagc cagccctgcc ggatggttcc ttggtcattc aggcttcaga ggggccgatg
     1441 aaaatacaga cactgcccaa catgagatct ggggctgctt cacaaactaa aggctctaaa
     1501 atccatccag ttggccctga ttggagtcct tcaaatgcag atcttttccc aagccaaggc
     1561 tctgcttctg tacctcaaag cactgggaat gctctggatc aagttgatga tggagaggtt
     1621 ccgctgaggg agaaagagaa gaaagtgcgt ccgttctcaa tgtttgatgc agtagaccag
     1681 tccaatgccc caccttcctt tggtactctg aggaagaacc agagcagtga agatatcttg
     1741 cgggatgctc aggttgcaaa taaaaatgtg gctaaagtac cacctcctgt tcctacaaaa
     1801 ccaaaacaga ttaatttgcc ttattttgga caaactaatc agccaccttc agacattaag
     1861 ccagacggaa gttctcagca gttgtcaaca gttgttccgt ccatgggaac taaaccaaaa
     1921 ccagcagggc agcagccgag agtgctgcta tctcccagca taccttcggt tggccaagac
     1981 cagacccttt ctccaggttc taagcaagaa agtccacctg ctgctgccgt ccggcccttt
     2041 actccccagc cttccaaaga caccttactt ccacccttca gaaaacccca gaccgtggca
     2101 gcaagttcaa tatattccat gtatacgcaa cagcaggcgc caggaaaaaa cttccagcag
     2161 gctgtgcaga gcgcgttgac caagactcat accagagggc cacacttttc aagtgtatat
     2221 ggtaagcctg taattgctgc tgcccagaat caacagcagc acccagagaa catttattcc
     2281 aatagccagg gcaagcctgg cagtccagaa cctgaaacag agcctgtttc ttcagttcag
     2341 gagaaccatg aaaacgaaag aattcctcgg ccactcagcc caactaaatt actgcctttc
     2401 ttatctaatc cttaccgaaa ccagagtgat gctgacctag aagccttacg aaagaaactg
     2461 tctaacgcac caaggcctct aaagaaacgt agttctatta cagagccaga gggtcctaat
     2521 gggccaaata ttcagaagct tttatatcag aggaccacca tagcggccat ggagaccatc
     2581 tctgtcccat catacccatc caagtcagct tctgtgactg ccagctcaga aagcccagta
     2641 gaaatccaga atccatattt acatgtggag cccgaaaagg aggtggtctc tctggttcct
     2701 gaatcattgt ccccagagga tgtggggaat gccagtacag agaacagtga catgccagct
     2761 ccttctccag gccttgatta tgagcctgag ggagtcccag acaacagccc aaatctccag
     2821 aataacccag aagaaccaaa tccagaggct ccacatgtgc ttgatgtgta cctggaggag
     2881 taccctccat acccaccccc accataccca tctggggagc ctgaagggcc cggagaagac
     2941 tcggtgagca tgcgcccgcc tgaaatcacc gggcaggtct ctctgcctcc tggtaaaagg
     3001 acaaacttgc gtaaaactgg ctcagagcgt atcgctcatg gaatgagggt gaaattcaac
     3061 ccccttgctt tactgctaga ttcgtctttg gagggagaat ttgaccttgt acagagaatt
     3121 atttatgagg ttgatgaccc aagcctcccc aatgatgaag gcatcacggc tcttcacaat
     3181 gctgtgtgtg caggccacac agaaatcgtt aagttcctgg tacagtttgg tgtaaatgta
     3241 aatgctgctg atagtgatgg atggactcca ttacattgtg ctgcctcatg taacaacgtc
     3301 caagtgtgta agtttttggt ggagtcagga gccgctgtgt ttgccatgac ctacagtgac
     3361 atgcagactg ctgcagataa gtgcgaggaa atggaggaag gctacactca gtgctcccaa
     3421 tttctttatg gagttcagga gaagatgggc ataatgaata aaggagtcat ttatgcgctt
     3481 tgggattatg aacctcagaa tgatgatgag ctgcccatga aagaaggaga ctgcatgaca
     3541 atcatccaca gggaagacga agatgaaatc gaatggtggt gggcgcgcct taatgataag
     3601 gagggatatg ttccacgtaa cttgctggga ctgtacccaa gaattaaacc aagacaaagg
     3661 agcttggcct gaaacttcca cacagaattt tagtcaatga agaattaatc tctgttaaga
     3721 agaagtaata cgattatttt tggcaaaaat ttcacaagac ttattttaat gacaatgtag
     3781 cttgaaagcg atgaagaatg tctctagaag agaatgaagg attgaagaat tcaccattag
     3841 aggacattta gcgtgatgaa ataaagcatc tacgtcagca ggccatactg tgttggggca
     3901 aaggtgtccc gtgtagcact cagataagta tacagcgaca atcctgtttt ctacaagaat
     3961 cctgtctagt aaataggatc atttattggg cagttgggaa atcagctctc tgtcctgttg
     4021 agtgttttca gcagctgctc ctaaaccagt cctcctgcca gaaaggacca gtgccgtcac
     4081 atcgctgtct ctgattgtcc ccggcaccag caggcccttg gggggctcac ctgaaggctc
     4141 gaaggcactg cacacttgta tattgtcagt gaagaactgt tagttggttg tcagtgaaca
     4201 ataactttat tatatgagtt tttgtagcat cttaagaatt atacatatgt ttgaaatatt
     4261 gaaactaagc tacggtacca gtaattagat gtagaatctt gtttgtaggc tgaattttaa
     4321 tctgtattta ttgtcttttg tatctcagaa attagaaact tgctacagac ttacccgtaa
     4381 tatttgtcaa gatcatagct gactttaaaa acagttgtaa taaacttttt gatgctagct
     4441 gtttactggt ttttgttttt gatgtcataa atagaccttg tttaatagtc acaagccgtt
     4501 gggatatcat acccagctga aaaagaacaa actgcttaac ataagtatat gtatcgtaat
     4561 aagagttttt taccagctaa gtgattcaat gtaagtggtt tttaaaataa aatactgtag
     4621 agatcatggt ga
//
LOCUS       NM_001031689            4724 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens phospholipase A2 activating protein (PLAA), transcript
            variant 1, mRNA.
ACCESSION   NM_001031689
VERSION     NM_001031689.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4724)
  AUTHORS   Shen Z, Gu L, Liu Y, Wang L, Zhu J, Tang S, Wei X, Wang J, Zhang S,
            Wang X, Cheng X, Xie X and Lu W.
  TITLE     PLAA suppresses ovarian cancer metastasis via METTL3-mediated m6A
            modification of TRPC3 mRNA
  JOURNAL   Oncogene 41 (35), 4145-4158 (2022)
   PUBMED   35869392
  REMARK    GeneRIF: PLAA suppresses ovarian cancer metastasis via
            METTL3-mediated m(6)A modification of TRPC3 mRNA.
REFERENCE   2  (bases 1 to 4724)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 4724)
  AUTHORS   Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake
            KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali
            GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N,
            Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA,
            Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester
            RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER and Mill P.
  TITLE     PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by
            Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic
            Proteins
  JOURNAL   Am J Hum Genet 100 (5), 706-724 (2017)
   PUBMED   28413018
  REMARK    GeneRIF: In both human and mouse, hypomorphic mutations in the
            ubiquitin adaptor protein PLAA cause an infantile-lethal
            neurodysfunction syndrome with seizures.
REFERENCE   4  (bases 1 to 4724)
  AUTHORS   Falik Zaccai TC, Savitzki D, Zivony-Elboum Y, Vilboux T, Fitts EC,
            Shoval Y, Kalfon L, Samra N, Keren Z, Gross B, Chasnyk N,
            Straussberg R, Mullikin JC, Teer JK, Geiger D, Kornitzer D,
            Bitterman-Deutsch O, Samson AO, Wakamiya M, Peterson JW, Kirtley ML,
            Pinchuk IV, Baze WB, Gahl WA, Kleta R, Anikster Y and Chopra AK.
  TITLE     Phospholipase A2-activating protein is associated with a novel form
            of leukoencephalopathy
  JOURNAL   Brain 140 (2), 370-386 (2017)
   PUBMED   28007986
  REMARK    GeneRIF: This study presented that Phospholipase A2-activating
            protein is associated with a novel form of leukoencephalopathy.
REFERENCE   5  (bases 1 to 4724)
  AUTHORS   Papadopoulos C, Kirchner P, Bug M, Grum D, Koerver L, Schulze N,
            Poehler R, Dressler A, Fengler S, Arhzaouy K, Lux V, Ehrmann M,
            Weihl CC and Meyer H.
  TITLE     VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of
            ruptured lysosomes by autophagy
  JOURNAL   EMBO J 36 (2), 135-150 (2017)
   PUBMED   27753622
  REMARK    GeneRIF: Upon damage, p97 translocates to lysosomes and there
            cooperates with a distinct set of cofactors including UBXD1, PLAA,
            and the deubiquitinating enzyme YOD1, which we term ELDR components
            for Endo-Lysosomal Damage Response.
REFERENCE   6  (bases 1 to 4724)
  AUTHORS   Seigneurin-Berny D, Verdel A, Curtet S, Lemercier C, Garin J,
            Rousseaux S and Khochbin S.
  TITLE     Identification of components of the murine histone deacetylase 6
            complex: link between acetylation and ubiquitination signaling
            pathways
  JOURNAL   Mol Cell Biol 21 (23), 8035-8044 (2001)
   PUBMED   11689694
REFERENCE   7  (bases 1 to 4724)
  AUTHORS   Beatty BG, Qi S, Pienkowska M, Herbrick JA, Scheidl T, Zhang ZM,
            Kola I, Scherer SW and Seth A.
  TITLE     Chromosomal localization of phospholipase A2 activating protein, an
            Ets2 target gene, to 9p21
  JOURNAL   Genomics 62 (3), 529-532 (1999)
   PUBMED   10644453
REFERENCE   8  (bases 1 to 4724)
  AUTHORS   Ruiz A, Nadal M, Puig S and Estivill X.
  TITLE     Cloning of the human phospholipase A2 activating protein (hPLAP)
            gene on the chromosome 9p21 melanoma deleted region
  JOURNAL   Gene 239 (1), 155-161 (1999)
   PUBMED   10571045
REFERENCE   9  (bases 1 to 4724)
  AUTHORS   Chopra AK, Ribardo DA, Wood TG, Prusak DJ, Xu XJ and Peterson JW.
  TITLE     Molecular characterization of cDNA for phospholipase A2-activating
            protein
  JOURNAL   Biochim Biophys Acta 1444 (1), 125-130 (1999)
   PUBMED   9931468
REFERENCE   10  (bases 1 to 4724)
  AUTHORS   Clark MA, Ozgur LE, Conway TM, Dispoto J, Crooke ST and Bomalaski
            JS.
  TITLE     Cloning of a phospholipase A2-activating protein
  JOURNAL   Proc Natl Acad Sci U S A 88 (12), 5418-5422 (1991)
   PUBMED   2052621
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.133481.1,
            SRR1803615.56293.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000397292.8/ ENSP00000380460.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA591576.1, BC032551.1 and AL356133.17.
            On Nov 22, 2018 this sequence version replaced NM_001031689.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4724
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.2"
     gene            1..4724
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="phospholipase A2 activating protein"
                     /db_xref="GeneID:9373"
                     /db_xref="HGNC:HGNC:9043"
                     /db_xref="MIM:603873"
     CDS             198..2585
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="isoform 1 is encoded by transcript variant 1; DOA1
                     homolog; phospholipase A-2-activating protein"
                     /codon_start=1
                     /product="phospholipase A-2-activating protein isoform 1"
                     /protein_id="NP_001026859.1"
                     /db_xref="CCDS:CCDS35000.1"
                     /db_xref="GeneID:9373"
                     /db_xref="HGNC:HGNC:9043"
                     /db_xref="MIM:603873"
                     /translation="MTSGATRYRLSCSLRGHELDVRGLVCCAYPPGAFVSVSRDRTTRL
                     WAPDSPNRSFTEMHCMSGHSNFVSCVCIIPSSDIYPHGLIATGGNDHNICIFSLDSPMP
                     LYILKGHKNTVCSLSSGKFGTLLSGSWDTTAKVWLNDKCMMTLQGHTAAVWAVKILPEQ
                     GLMLTGSADKTVKLWKAGRCERTFSGHEDCVRGLAILSETEFLSCANDASIRRWQITGE
                     CLEVYYGHTNYIYSISVFPNCRDFVTTAEDRSLRIWKHGECAQTIRLPAQSIWCCCVLD
                     NGDIVVGASDGIIRVFTESEDRTASAEEIKAFEKELSHATIDSKTGDLGDINAEQLPGR
                     EHLNEPGTREGQTRLIRDGEKVEAYQWSVSEGRWIKIGDVVGSSGANQQTSGKVLYEGK
                     EFDYVFSIDVNEGGPSYKLPYNTSDDPWLTAYNFLQKNDLNPMFLDQVAKFIIDNTKGQ
                     MLGLGNPSFSDPFTGGGRYVPGSSGSSNTLPTADPFTGAGRYVPGSASMGTTMAGVDPF
                     TGNSAYRSAASKTMNIYFPKKEAVTFDQANPTQILGKLKELNGTAPEEKKLTEDDLILL
                     EKILSLICNSSSEKPTVQQLQILWKAINCPEDIVFPALDILRLSIKHPSVNENFCNEKE
                     GAQFSSHLINLLNPKGKPANQLLALRTFCNCFVGQAGQKLMMSQRESLMSHAIELKSGS
                     NKNIHIALATLALNYSVCFHKDHNIEGKAQCLSLISTILEVVQDLEATFRLLVALGTLI
                     SDDSNAVQLAKSLGVDSQIKKYSSVSEPAKVSECCRFILNLL"
     misc_feature    246..365
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y263.2);
                     Region: WD 1"
     misc_feature    345..347
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y263.2); phosphorylation site"
     misc_feature    384..518
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y263.2);
                     Region: WD 2"
     misc_feature    525..641
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y263.2);
                     Region: WD 3"
     misc_feature    642..761
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y263.2);
                     Region: WD 4"
     misc_feature    765..878
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y263.2);
                     Region: WD 5"
     misc_feature    882..1001
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y263.2);
                     Region: WD 6"
     misc_feature    1005..1118
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y263.2);
                     Region: WD 7"
     misc_feature    1782..1784
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9Y263.2); acetylation site"
     misc_feature    1833..1961
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y263.2);
                     Region: ARM 1"
     misc_feature    1962..2057
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y263.2);
                     Region: ARM 2"
     misc_feature    2058..2204
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y263.2);
                     Region: ARM 3"
     misc_feature    2205..2342
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y263.2);
                     Region: ARM 4"
     misc_feature    2343..2462
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y263.2);
                     Region: ARM 5"
     misc_feature    2463..2582
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y263.2);
                     Region: ARM 6"
     regulatory      2733..2738
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="hexamer: AATAAA"
     polyA_site      2755
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="major polyA site"
     regulatory      4625..4630
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="hexamer: ATTAAA"
     polyA_site      4646
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
     regulatory      4704..4709
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
                     /note="hexamer: AATAAA"
     polyA_site      4724
                     /gene="PLAA"
                     /gene_synonym="DOA1; NDMSBA; PLA2P; PLAP"
ORIGIN
        1 aggcttgctg tgtcactcgg cccgctcggc gcgccccttc ccagccgccc ttccgtaccg
       61 gctctcgggc tcttccggtc tccggccgcc ccttacctgc aggctcttct cccgccgcgg
      121 cccggcgctc tccgagtcgc ccctgcggac tggtctcgca cagtgcctgg gcaccgggcg
      181 ccagacagac actggccatg acgagcggcg caaccaggta ccggctgagc tgctcgctcc
      241 ggggccacga gctggacgta cggggcctgg tgtgctgcgc ctatccgccg ggagcctttg
      301 tgtccgtgtc ccgagaccgc accacccgcc tctgggcccc agacagtcca aacaggagct
      361 ttacagaaat gcactgtatg agtggccatt ccaattttgt atcttgtgta tgcatcatac
      421 cctcaagtga catctaccct catggcctaa ttgccaccgg tggaaatgac cacaatatat
      481 gcattttctc actggacagt ccaatgccac tttatattct aaaaggccac aaaaatactg
      541 tttgtagtct atcatctgga aaatttggga cattacttag tggttcatgg gacaccactg
      601 ctaaagtctg gctgaatgac aagtgcatga tgaccttgca gggtcataca gctgcagtgt
      661 gggcggtaaa gatcttacct gaacagggct taatgttgac tggatcagca gacaagactg
      721 ttaaactgtg gaaggctgga agatgtgaga ggactttttc agggcatgaa gactgtgtaa
      781 gaggtttggc aattttgagt gaaacagaat ttctttcctg tgcaaatgat gctagtatta
      841 gaaggtggca aatcactggc gagtgtcttg aagtatatta tggacataca aattatattt
      901 atagcatatc cgtttttcca aattgtagag actttgtgac aacagcagag gacagatctc
      961 tgagaatctg gaaacatggg gaatgtgctc aaactatccg acttccagct cagtctatat
     1021 ggtgctgctg tgtgctcgac aatggtgaca ttgtggttgg tgcgagtgat ggcattatta
     1081 gagtgtttac agaatcagaa gatcgaacag caagtgctga agaaatcaag gcttttgaaa
     1141 aagaactgtc tcacgcaacc attgattcta aaactggcga tttaggggac atcaatgctg
     1201 agcagcttcc tgggagggaa catcttaatg aacctggtac tagagaagga cagactcgtc
     1261 taatcagaga tggggagaaa gtcgaagcct atcagtggag tgttagtgaa gggaggtgga
     1321 taaaaattgg tgatgttgtt ggctcatctg gtgctaatca gcaaacatct ggaaaagttt
     1381 tatatgaagg gaaagaattt gattatgttt tctcaattga tgtcaatgaa ggtggaccat
     1441 catataaatt gccatataat accagtgatg acccttggtt aactgcatac aacttcttac
     1501 agaagaatga tttgaatcct atgtttctgg atcaagtagc taaatttatt attgataaca
     1561 caaaaggtca aatgttggga cttgggaatc ccagcttttc agatccattt acaggtggtg
     1621 gtcggtatgt tccgggctct tcgggatctt ctaacacact acccacagca gatcctttta
     1681 caggtgctgg tcgttatgta ccaggttctg caagtatggg aactaccatg gccggagttg
     1741 atccatttac agggaatagt gcctaccgat cagctgcatc taaaacaatg aatatttatt
     1801 tccctaaaaa agaggctgtc acatttgacc aagcaaaccc tacacaaata ttaggtaaac
     1861 tgaaggaact taatggaact gcacctgaag agaagaagtt aactgaggat gacttgatac
     1921 ttcttgagaa gatactgtct ctaatatgta atagttcttc agaaaaaccc acagtccagc
     1981 aacttcagat tttgtggaaa gctattaact gtcctgaaga tattgtcttt cctgcacttg
     2041 acattcttcg gttgtcaatt aaacacccca gtgtgaatga gaacttctgc aatgaaaagg
     2101 aaggggctca gttcagcagt catcttatca atcttctgaa ccctaaagga aagccagcaa
     2161 accagctgct tgctctcagg actttttgca attgttttgt tggccaggca ggacaaaaac
     2221 tcatgatgtc ccagagggaa tcactgatgt cccatgcaat agaactgaaa tcagggagca
     2281 ataagaacat tcacattgct ctggctacat tggccctgaa ctattctgtt tgttttcata
     2341 aagaccataa cattgaaggg aaagcccaat gtttgtcact aattagcaca atcttggaag
     2401 tagtacaaga cctagaagcc acttttagac ttcttgtggc tcttggaaca cttatcagtg
     2461 atgattcaaa tgctgtacaa ttagccaagt ctttaggtgt tgattctcaa ataaaaaagt
     2521 attcctcagt atcagaacca gctaaagtaa gtgaatgctg tagatttatc ctaaatttgc
     2581 tgtagcagtg gggaagaggg acggatattt ttaattgatt agtgtttttt tcctcacatt
     2641 tgacatgact gataacagat aattaaaaaa agagaatacg gtggattaag taaaatttta
     2701 catcttgtaa agtggtgggg aggggaaaca gaaataaaat ttttgcactg ctgaactgtg
     2761 agattttcct gtgtaatttg ggtagatttt caagagtgtg aacacaaatt taaaataagc
     2821 tataatcagc aacaacacaa tgacaatgac atcttcccct taccttagcc actaagaaga
     2881 caagggctgt tactcatata acttgctttt attacttaat gtacaccaaa ctgttgttgt
     2941 caattatctt ttatttaact tctccacctt cattgctaga tccttcgaac agcactgata
     3001 catttcaagg tcttgtttta ggataactac tttaaaattt tttaaattat attaaattta
     3061 taaaataatt tataaattca tatattaaaa caatataaga taatttcttg atttgtcatt
     3121 tataaatcct aaagtatatt tgtttaatgg cctattttta gatgaagaaa aagccagttg
     3181 gtaagctgtg ttagtcatgt atcagttcag acagacgagg tctcaattta actccaggct
     3241 tagatccagt ttcttttgcc cttcactatt tgaggtaact tcatttttca ttctagtttt
     3301 gatatttggc tgtttatttt tgtcattttc cattatttca aagggaattt ggaacatgtt
     3361 gaattttatc aggtggttac ataagcaaga gtacatcaaa ctgtattatt tgaaagtcta
     3421 gaacctgtca tgtgaaatta ctatttttga gccctctatg tggtccaggc agaatagtag
     3481 acacactgat atttaatcct taaaacccct ttaaatgagg gccagtatta tctctgcttt
     3541 cagaagtaga cataatagga tgaatcatat aacagaaaaa aaaaagtgaa gccaagaggg
     3601 agttaactac ttaaagtaca tgctatgcta tactttctag agagatcaca gatgtgtgtg
     3661 aacatcctag caattaacac aaagaaggaa ccatcacatt aattacacaa tttattgtgt
     3721 ctgaggtaac ccagtttctt gagagaagcg taactatttt caaaagtggg aaagatcttt
     3781 tcataaagac gttgccagaa atagcaacat tctcaatact cgtggtgtaa aaaccatgaa
     3841 tcccctggct taatgccaaa ttatagcctt agaagaataa ttgttcccca aatgggcaag
     3901 aaaggttcta attgtcaaga gtaacccaag taagaacttt tggaatatca aaaggaaatg
     3961 agcaaaatgt aaatagaggg gatatgtact ttgctgagta ttaaattgga actacctggt
     4021 gtgtacctgg actaaatatt ctgttcactg gctcagttga gtacctatac ttttcgtttt
     4081 ttgattgggt ttaggtggtt atgtcaaagt taaatggcaa aattaggaat ttaacccagg
     4141 tctggctggt tcctttacaa tacactgctt tcttaagtac aaataattta attgcaatat
     4201 ttaggaaaag taggtacctt tgaataatga taagaaacag tcttggttaa gaatatgagt
     4261 tccctcttca aaatgtaagg ggtggcaaaa tgtaaacact gcttcctatt actgtgcaag
     4321 tttttttatg tcaactttac tatttcatgt ttgttgtgga gattacaaaa tatagcttag
     4381 caaaaggaaa caatctcact tgaaggatat gttaaataat ttaatgatat tttaaagatt
     4441 ttctttttta gttaaacttt cctatgattc tcttaatgtt ttttctgaat acaaaagtaa
     4501 taaatattta ttgagtaaaa cacacacacc ccaaataaaa attgcctgta aggccactat
     4561 ctagagaaaa ctattcttaa catcttgtgg catagtgact atgtatgtaa atgtatttta
     4621 ttttattaaa aaagcgttgt atcatacata ctctttgata acctgatttt taaacttata
     4681 tttggtacaa agagctccac attaataaat acaatattct atca
//
LOCUS       NM_001031690            4343 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens family with sequence similarity 131 member B (FAM131B),
            transcript variant a, mRNA.
ACCESSION   NM_001031690
VERSION     NM_001031690.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4343)
  AUTHORS   Orvedahl A, Sumpter R Jr, Xiao G, Ng A, Zou Z, Tang Y, Narimatsu M,
            Gilpin C, Sun Q, Roth M, Forst CV, Wrana JL, Zhang YE, Luby-Phelps
            K, Xavier RJ, Xie Y and Levine B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   2  (bases 1 to 4343)
  AUTHORS   Lee OH, Kim H, He Q, Baek HJ, Yang D, Chen LY, Liang J, Chae HK,
            Safari A, Liu D and Songyang Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC045611.1, SRR14038193.75947.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000443739.7/ ENSP00000410603.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093673.4.
            On Jul 3, 2019 this sequence version replaced NM_001031690.2.
            Transcript Variant: This variant (a) represents the longest
            transcript and encodes the longest isoform (a).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4343
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..4343
                     /gene="FAM131B"
                     /note="family with sequence similarity 131 member B"
                     /db_xref="GeneID:9715"
                     /db_xref="HGNC:HGNC:22202"
                     /db_xref="MIM:619282"
     misc_feature    81..83
                     /gene="FAM131B"
                     /note="upstream in-frame stop codon"
     CDS             111..1193
                     /gene="FAM131B"
                     /note="isoform a is encoded by transcript variant a;
                     protein FAM131B"
                     /codon_start=1
                     /product="protein FAM131B isoform a"
                     /protein_id="NP_001026860.2"
                     /db_xref="CCDS:CCDS47734.1"
                     /db_xref="GeneID:9715"
                     /db_xref="HGNC:HGNC:22202"
                     /db_xref="MIM:619282"
                     /translation="MGCIGSRTVGNEVIAVDWKGLKDVDQINMDSTSSLHGSSLHRPST
                     EQTRTDFSWDGINLSMEDTTSILPKLKRNSNAYGIGALAKSSFSGISRSMKDHVTKPTA
                     MGQGRVAHMIEWQGWGKTPAVQPQHSHESVRRDTDAYSDLSDGEKEARFLAGVMEQFAI
                     SEATLMAWSSMDGEDMSVNSTQEPLGCNYSDNYQELMDSQDALAQAPMDGWPHSYVSQG
                     MYCLGSSDAWEASDQSLIASPATGSYLGPAFDDSQPSLHEMGPSQPASGYSALEPPPLL
                     GGDTDWAPGVGAVDLARGPAEEEKRPLAPEEEEDAGCRDLESLSPREDPEMSTALSRKV
                     SDVTSSGVQSFDEEEGEANN"
     regulatory      4323..4328
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM131B"
                     /note="hexamer: ACTAAA"
     polyA_site      4343
                     /gene="FAM131B"
                     /note="major polyA site"
ORIGIN
        1 ggagacagcc gcggcgctgc agagcggctg gggcggcggc gcggctcccg gtgctccccc
       61 cggcgcgcgc cccgagtcgg tgagggcccg gctctgcggc ccccggagcc atgggctgca
      121 tcggctcccg gactgtgggg aatgaggtga ttgcagtgga ttggaagggc ctgaaggatg
      181 tcgatcaaat caacatggac agcaccagct cactgcacgg gagcagcctc catcggccat
      241 cgactgagca aactcgaact gatttctcct gggacggcat caacctctcc atggaggaca
      301 ccacttccat tcttccgaag cttaagcgaa actctaacgc ctatggcatt ggggccctgg
      361 ccaagtcatc attctcaggg atctcacgga gcatgaagga ccatgtgaca aagcccacag
      421 ccatggggca aggccgggtg gcccacatga ttgagtggca gggctggggg aagacaccag
      481 ctgttcagcc acaacacagc catgagtccg tgcgcaggga tacggatgcc tactccgacc
      541 tcagcgatgg cgagaaggag gcacgttttc tagcaggcgt catggagcag tttgctatct
      601 ctgaggccac actcatggcc tggtcttcca tggatggtga ggacatgagt gtgaactcca
      661 cccaggagcc attgggctgc aactacagtg acaactacca ggaactgatg gacagtcagg
      721 atgccctggc tcaagcaccc atggatggat ggcctcactc ttacgtgtcc cagggtatgt
      781 actgtctggg gtcgtcagat gcctgggaag ccagcgatca gtccctcatt gcctctccgg
      841 ccacaggatc ctatcttggg cctgcatttg atgactcaca acccagcttg catgaaatgg
      901 gaccttccca accagcttca ggatactctg ctctggagcc tccacctttg ctggggggag
      961 acactgactg ggctccgggg gtaggcgcag tggacctggc aaggggccct gctgaggagg
     1021 agaagaggcc attggcacct gaggaggaag aggatgcggg atgccgggac ctggagtcac
     1081 tttccccacg agaagaccct gagatgtcta ccgctctcag ccggaaggtg tctgacgtca
     1141 catcctcagg tgtgcagtcc tttgatgagg aggaaggcga ggccaacaac tagtttcctc
     1201 ccccaatgcc ctgccttcca ctcccacctg agggccatgg ctgtgaccca taccctccct
     1261 ccccccagca gtacagctga aactgggcag acaacattgg ggaacccagg agcttccagt
     1321 cctctcctgg aaatggagga ccaggatggg attttatcca ggcttacact ctagaaaccc
     1381 acaggcctgg gaactgagac ctgggcaact agatggccgt gagcttggtg tggctgtgga
     1441 gaaggacctg ggctgtgggc ttctgggtct gtgccgacaa agcctccagt gtgtgcaccc
     1501 tgaggacggg ggcagcgcag ctgtgctcaa gactggatct cagttcttca cgccccgatt
     1561 tcgtcttcca ggagctgtaa ctctgctgtc tgaatgcctc ctttctccat ttcactcttg
     1621 cttttcccaa ctctgttttc tctggctgtg gccccagctc atccctactg agagaacaga
     1681 cctcaggggc tgttggacat ggctggacag gcgcagggga ggctgcctga agggcacgtc
     1741 catggggagg gtggagaggc tgcctcagca ggtcatttgg cttctgagat caggagtcga
     1801 ggaggaggtg gatgtggcag ctgagatcta cagggggcac ggatgtggtt ctttctatca
     1861 aggcctgccc ggagacaaga gagtcactga ggagactaag aacaaacaca gccccttgct
     1921 ctgggatctt taatatccca tggctaaaag gaagatccta aggatctggg aaaagaccca
     1981 gccagggctg gctgctccag ctcttgcttc cctttcagct ttcttccatc cctgctccgg
     2041 gagcctgagg agggtgtggg gacacccatc ttggatacac caacgcagga tgcaggtgtc
     2101 gccaacagca gggggagcat gagggctgtc tccccttatt cacccctgtc ctctgaagct
     2161 gtttacactt ttctctttgc cttttctaca tttttataac ttcttgggca ctcagggttg
     2221 agtggagtgg agggaggagt ccggtgctgt cactccctca gccaggcagg gttgcagctg
     2281 agggccaggg tgggcactcg gcactttctg ccccttcttc agctcctccc aggactccca
     2341 aacagcctca cagctgtcct ccctgcctcc ccaggcctcc taccagagga agagaggaaa
     2401 atcagcggat tcttccttcc aggatggtgt atggtgaggc acaagcttgc cctcccacac
     2461 ttggcatcca tgctggtggg gactgagcag catatgcgcc ccagcactac cgtgagagca
     2521 caggcagagg atgggcggag caaagcagcg gtgctgtggg gttggagagc acttggccct
     2581 gccactgccc aggtagcccc tccccagccc ttggcacagg cagagttcgg gtaggagaga
     2641 gaggcctaag aggctcactg ccctatctcc ttctttcctc acgcccttcc aaggctccgg
     2701 ctcccaggcc tgtgtcctac ccacactctg tcaggagtcc taccacttgc atcctctgct
     2761 ggaagggagc actgttgtcc tctcctggcc ctgggcacaa actttgccct cacccccagg
     2821 ccccagaact tattattttg gagtgagaag gttgagagtt ggggtgtttc tgtccatcta
     2881 tggtcctgtc ccgccatcaa gttcatactc tcttactcac acttctggga tgcaagcagg
     2941 gcagggggtt ctgtgtcttc catggaaggg ggacaatggt tatcctgagg ttggtttttg
     3001 gaggaaacat gggcgtaggc aaggtgaacc aaggcaggtg cagtcaccta accgaatgct
     3061 gcctgtacag gggaagagtc ctcttgtgct tgctaacgtg tgctgactcc atgtcccagg
     3121 acctcatttc caggagctct gagaggtggt ctagcatgcc cgccctggca gctattcccc
     3181 acccgtctcc tgctgcaggc tctggggttt tgcatgttca tgtgaccttc cttccatggg
     3241 gtccctggtt cctcaccttc tccaatgtgt gctattccca catcacctct tcctgtcgtc
     3301 tcatcctctc agtgcccata tcataccccc agaccacggt ggacagctca cctagtgagt
     3361 gcgttcattc attacagttc gtttttgctc aggcccgggg gagttaggaa aggtagacca
     3421 cagcagcttt cgttcctcct tccctttccc aaggaagcca aatggtccct gacaaaagat
     3481 gactaaagat ctgaaggact ctagcagggt tcatacatga acctgctttc cccagggtgc
     3541 tggcatattg ctgcagatgg aagtcaggtg ggggtctgtc ttctgcaagg agctcctact
     3601 cgctctgaag agggagactg aggagctggc ctgggaccat cttaggactc ttctggtgct
     3661 gggggcaggg tgcatggggg ttgcttatcg tctatttcag ggggtgggga ggggcatgtg
     3721 caggaagagg ctgtttcggg gtgggaaagg gttgcttttc ctttggggtt aaggctgtgc
     3781 agcacgtttt acagcagtcc tggaacaggg ctgtttttat attcttgtga atgaaactgc
     3841 tcttgctaaa tgattttctt tttttggagg gggggtgcac tttcattttc aattgacttt
     3901 attaaatgaa aatccaaatc ttccactcct ccccctccat tgtcccctcc cccaccacac
     3961 accttccttc ttgtccttgt gttgaagagg gtatcttggg gaatgagttt attatcttct
     4021 ccacgacctc acctatacat cccacacacc atcctccagg tctgggaaat atccattttt
     4081 ctggccagtc ttagcatgtt ttcttaatgt cacattccca cgccaggccc aagagagatt
     4141 ctatgacata tattatagag agaattctat atcaatatat ataaatatta gagattatgt
     4201 acacaagggc atgggctcaa atgcccactg ccagtccccc acccaggctt cagcatctct
     4261 cttggcctgg ggaagtggga gggatgtgat gctggagaag gctacaggct gtgttcaatg
     4321 acactaaaca gaatgtggtg gca
//
LOCUS       NM_001031692            2116 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript
            variant 1, mRNA.
ACCESSION   NM_001031692
VERSION     NM_001031692.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2116)
  AUTHORS   Liu F, Yuan Y, Bai L, Yuan L, Li L, Liu J, Chen Y, Lu Y, Cheng J and
            Zhang J.
  TITLE     LRRc17 controls BMSC senescence via mitophagy and inhibits the
            therapeutic effect of BMSCs on ovariectomy-induced bone loss
  JOURNAL   Redox Biol 43, 101963 (2021)
   PUBMED   33865167
  REMARK    GeneRIF: LRRc17 controls BMSC senescence via mitophagy and inhibits
            the therapeutic effect of BMSCs on ovariectomy-induced bone loss.
REFERENCE   2  (bases 1 to 2116)
  AUTHORS   Oh CK, Park JJ, Ha M, Heo HJ, Kang J, Kwon EJ, Kang JW, Kim Y, Kang
            JM, Yoon SZ, Ko Y, Ko DS and Kim YH.
  TITLE     LRRC17 Is Linked to Prognosis of Ovarian Cancer Through a
            p53-dependent Anti-apoptotic Function
  JOURNAL   Anticancer Res 40 (10), 5601-5609 (2020)
   PUBMED   32988884
  REMARK    GeneRIF: LRRC17 Is Linked to Prognosis of Ovarian Cancer Through a
            p53-dependent Anti-apoptotic Function.
REFERENCE   3  (bases 1 to 2116)
  AUTHORS   Hong N, Kim BJ, Kim CH, Baek KH, Min YK, Kim DY, Lee SH, Koh JM,
            Kang MI and Rhee Y.
  TITLE     Low Plasma Level of Leucine-Rich Repeat-Containing 17 (LRRc17) Is an
            Independent and Additive Risk Factor for Osteoporotic Fractures in
            Postmenopausal Women
  JOURNAL   J Bone Miner Res 31 (12), 2106-2114 (2016)
   PUBMED   27355564
  REMARK    GeneRIF: low circulating plasma level of LRRc17 might serve as an
            independent and additive risk factor for osteoporotic fractures.
REFERENCE   4  (bases 1 to 2116)
  AUTHORS   Hsia LT, Ashley N, Ouaret D, Wang LM, Wilding J and Bodmer WF.
  TITLE     Myofibroblasts are distinguished from activated skin fibroblasts by
            the expression of AOC3 and other associated markers
  JOURNAL   Proc Natl Acad Sci U S A 113 (15), E2162-E2171 (2016)
   PUBMED   27036009
  REMARK    GeneRIF: Whole-genome microarray mRNA-expression profiles of
            myofibroblasts and skin fibroblasts revealed four additional genes
            that are significantly differentially expressed in these two cell
            types: NKX2-3 and LRRC17 in myofibroblasts and SHOX2 and TBX5 in
            skin fibroblasts
REFERENCE   5  (bases 1 to 2116)
  AUTHORS   Kim T, Kim K, Lee SH, So HS, Lee J, Kim N and Choi Y.
  TITLE     Identification of LRRc17 as a negative regulator of receptor
            activator of NF-kappaB ligand (RANKL)-induced osteoclast
            differentiation
  JOURNAL   J Biol Chem 284 (22), 15308-15316 (2009)
   PUBMED   19336404
REFERENCE   6  (bases 1 to 2116)
  AUTHORS   Kim D, LaQuaglia MP and Yang SY.
  TITLE     A cDNA encoding a putative 37 kDa leucine-rich repeat (LRR) protein,
            p37NB, isolated from S-type neuroblastoma cell has a differential
            tissue distribution
  JOURNAL   Biochim Biophys Acta 1309 (3), 183-188 (1996)
   PUBMED   8982252
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK225701.1, SRR1660803.207957.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000339431.9/ ENSP00000344242.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA749917.1, BC027903.1, AC073127.11 and AI961444.1.
            On Nov 22, 2018 this sequence version replaced NM_001031692.2.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2116
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..2116
                     /gene="LRRC17"
                     /gene_synonym="P37NB"
                     /note="leucine rich repeat containing 17"
                     /db_xref="GeneID:10234"
                     /db_xref="HGNC:HGNC:16895"
                     /db_xref="MIM:618749"
     misc_feature    197..199
                     /gene="LRRC17"
                     /gene_synonym="P37NB"
                     /note="upstream in-frame stop codon"
     CDS             287..1612
                     /gene="LRRC17"
                     /gene_synonym="P37NB"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; 37 kDa leucine-rich repeat (LRR) protein; leucine-rich
                     repeat-containing protein 17"
                     /codon_start=1
                     /product="leucine-rich repeat-containing protein 17 isoform
                     1 precursor"
                     /protein_id="NP_001026862.1"
                     /db_xref="CCDS:CCDS34721.1"
                     /db_xref="GeneID:10234"
                     /db_xref="HGNC:HGNC:16895"
                     /db_xref="MIM:618749"
                     /translation="MRVVTIVILLCFCKAAELRKASPGSVRSRVNHGRAGGGRRGSNPV
                     KRYAPGLPCDVYTYLHEKYLDCQERKLVYVLPGWPQDLLHMLLARNKIRTLKNNMFSKF
                     KKLKSLDLQQNEISKIESEAFFGLNKLTTLLLQHNQIKVLTEEVFIYTPLLSYLRLYDN
                     PWHCTCEIETLISMLQIPRNRNLGNYAKCESPQEQKNKKLRQIKSEQLCNEEEKEQLDP
                     KPQVSGRPPVIKPEVDSTFCHNYVFPIQTLDCKRKELKKVPNNIPPDIVKLDLSYNKIN
                     QLRPKEFEDVHELKKLNLSSNGIEFIDPAAFLGLTHLEELDLSNNSLQNFDYGVLEDLY
                     FLKLLWLRDNPWRCDYNIHYLYYWLKHHYNVHFNGLECKTPEEYKGWSVGKYIRSYYEE
                     CPKDKLPAYPESFDQDTEDDEWEKKHRDHTAKKQSVIITIVG"
     sig_peptide     287..331
                     /gene="LRRC17"
                     /gene_synonym="P37NB"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    530..595
                     /gene="LRRC17"
                     /gene_synonym="P37NB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6Y2.1);
                     Region: LRR 1"
     misc_feature    602..667
                     /gene="LRRC17"
                     /gene_synonym="P37NB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6Y2.1);
                     Region: LRR 2"
     misc_feature    674..739
                     /gene="LRRC17"
                     /gene_synonym="P37NB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6Y2.1);
                     Region: LRR 3"
     misc_feature    1091..1156
                     /gene="LRRC17"
                     /gene_synonym="P37NB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6Y2.1);
                     Region: LRR 4"
     misc_feature    1163..1228
                     /gene="LRRC17"
                     /gene_synonym="P37NB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6Y2.1);
                     Region: LRR 5"
     misc_feature    1235..1306
                     /gene="LRRC17"
                     /gene_synonym="P37NB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6Y2.1);
                     Region: LRR 6"
     regulatory      1929..1934
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC17"
                     /gene_synonym="P37NB"
                     /note="hexamer: AAGAAA"
     polyA_site      1954
                     /gene="LRRC17"
                     /gene_synonym="P37NB"
     regulatory      2023..2028
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC17"
                     /gene_synonym="P37NB"
                     /note="hexamer: AATAAA"
     polyA_site      2049
                     /gene="LRRC17"
                     /gene_synonym="P37NB"
                     /note="major polyA site"
     regulatory      2080..2085
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC17"
                     /gene_synonym="P37NB"
                     /note="hexamer: AATAAA"
     polyA_site      2116
                     /gene="LRRC17"
                     /gene_synonym="P37NB"
                     /note="major polyA site"
ORIGIN
        1 attagtataa cgtgagggct gaatgcagcc cattctctgg agaacttcct cacacaccgc
       61 agcaaagaga agactgaaag acaaacctgg gtgcagccag agaggtccag atagatgagc
      121 ttgtggcatc cattccccaa gttcagccta gggactccac gtaccccagc tgggtctcat
      181 tgttccagaa ctgcattagt taagattacc cagacttgga tttcaaagga atactttcat
      241 tgttccgtct gtaacacgaa gtaattgggg ccagctggat gtcaggatgc gtgtggttac
      301 cattgtaatc ttgctctgct tttgcaaagc ggctgagctg cgcaaagcaa gcccaggcag
      361 tgtgagaagc cgagtgaatc atggccgggc gggtggaggc cggagaggct ccaacccggt
      421 caaacgctac gcaccaggcc tcccgtgtga cgtgtacaca tatctccatg agaaatactt
      481 agattgtcaa gaaagaaaat tagtttatgt gctgcctggt tggcctcagg atttgctgca
      541 catgctgcta gcaagaaaca agatccgcac attgaagaac aacatgtttt ccaagtttaa
      601 aaagctgaaa agcctggatc tgcagcagaa tgagatctct aaaattgaga gtgaggcgtt
      661 ctttggttta aacaaactca ccaccctctt actgcagcac aaccagatca aagtcttgac
      721 ggaggaagtg ttcatttaca cacctctctt gagctacctg cgtctttatg acaacccctg
      781 gcactgtact tgtgagatag aaacgcttat ttcaatgttg cagattccca ggaaccggaa
      841 tttggggaac tacgccaagt gtgaaagtcc acaagaacaa aaaaataaaa aactgcggca
      901 gataaaatct gaacagttgt gtaatgaaga agaaaaggaa caattggacc cgaaacccca
      961 agtgtcaggg agacccccag tcatcaagcc tgaggtggac tcaacttttt gccacaatta
     1021 tgtgtttccc atacaaacac tggactgcaa aaggaaagag ttgaaaaaag tgccaaacaa
     1081 catccctcca gatattgtta aacttgactt gtcatacaat aaaatcaacc aacttcgacc
     1141 caaggaattt gaagatgttc atgagctgaa gaaattaaac ctcagcagca atggcattga
     1201 attcatcgat cctgccgctt ttttagggct cacacattta gaagaattag atttatcaaa
     1261 caacagtctg caaaactttg actatggcgt attagaagac ttgtattttt tgaaactctt
     1321 gtggctcaga gataaccctt ggagatgtga ctacaacatt cactacctct actactggtt
     1381 aaagcaccac tacaatgtcc attttaatgg cctggaatgc aaaacgcctg aagaatacaa
     1441 aggatggtct gtgggaaaat atattagaag ttactatgaa gaatgcccca aagacaagtt
     1501 accagcatat cctgagtcat ttgaccaaga cacagaagat gatgaatggg aaaaaaaaca
     1561 tagagatcac accgcaaaga agcaaagcgt aataattact atagtaggat aaggtagaaa
     1621 ttgttctgat tgtaattagt tttgtatttt ctatactggt gttagaaaac atatgtttac
     1681 atttgattaa ctgtgttgcc tatttatgca gggtaatcca gctaaaggaa gctttcttta
     1741 attataagta ttattgtgac tattatagta atcaagagaa tgctatcatc ctgcttgcct
     1801 gtccatttgt ggaacagcat ctggtgatat gcaattccac actggtaacc tgcagcagtt
     1861 gggtcctaat gatggcatta gactttcata atgtcctgta taaatgtttt tactgctttt
     1921 agaaaataaa gaaaaaaaac ttggttcatg tttacatgcc tttcgatagc tgtttgtgca
     1981 tacttaaaga tgatcaaaat gattttatac aaatgctgtt ataataaaat gtcattccct
     2041 acccctctac tttttttcag taagtcatct tatacattaa ataaatttcc atttctgatt
     2101 tctgtgcatt ccaaaa
//
LOCUS       NM_001031698            3182 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens pre-mRNA processing factor 40 homolog B (PRPF40B),
            transcript variant 1, mRNA.
ACCESSION   NM_001031698
VERSION     NM_001031698.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3182)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3182)
  AUTHORS   Lorenzini PA, Chew RSE, Tan CW, Yong JY, Zhang F, Zheng J and Roca
            X.
  TITLE     Human PRPF40B regulates hundreds of alternative splicing targets and
            represses a hypoxia expression signature
  JOURNAL   RNA 25 (8), 905-920 (2019)
   PUBMED   31088860
  REMARK    GeneRIF: Study characterizes the transcriptomic regulation of
            PRPF40B in K562 cells upon knockout (KO) and rescue with MDS
            mutations, to reveal a set of targets with weak splice sites and
            A-rich motifs. Importantly, PRPF40B KO up-regulated a hypoxia
            signature which, together with its low expression in AML, suggests a
            role of PRPF40B in myeloid leukemias.
REFERENCE   3  (bases 1 to 3182)
  AUTHORS   Becerra S, Montes M, Hernandez-Munain C and Sune C.
  TITLE     Prp40 pre-mRNA processing factor 40 homolog B (PRPF40B) associates
            with SF1 and U2AF65 and modulates alternative pre-mRNA splicing in
            vivo
  JOURNAL   RNA 21 (3), 438-457 (2015)
   PUBMED   25605964
  REMARK    GeneRIF: Placing our data in a functional context, we also show that
            PRPF40B depletion increased Fas/CD95 receptor number and cell
            apoptosis, which suggests the ability of PRPF40B to alter the
            alternative splicing of key apoptotic genes to regulate cell
            survival
REFERENCE   4  (bases 1 to 3182)
  AUTHORS   Buschdorf JP and Stratling WH.
  TITLE     A WW domain binding region in methyl-CpG-binding protein MeCP2:
            impact on Rett syndrome
  JOURNAL   J Mol Med (Berl) 82 (2), 135-143 (2004)
   PUBMED   14618241
REFERENCE   5  (bases 1 to 3182)
  AUTHORS   Passani LA, Bedford MT, Faber PW, McGinnis KM, Sharp AH, Gusella JF,
            Vonsattel JP and MacDonald ME.
  TITLE     Huntingtin's WW domain partners in Huntington's disease post-mortem
            brain fulfill genetic criteria for direct involvement in
            Huntington's disease pathogenesis
  JOURNAL   Hum Mol Genet 9 (14), 2175-2182 (2000)
   PUBMED   10958656
REFERENCE   6  (bases 1 to 3182)
  AUTHORS   Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF and MacDonald
            ME.
  TITLE     Huntingtin interacts with a family of WW domain proteins
  JOURNAL   Hum Mol Genet 7 (9), 1463-1474 (1998)
   PUBMED   9700202
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2199603.1,
            SRR14038197.1516244.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000548825.7/ ENSP00000448073.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020612.40.
            On Mar 18, 2020 this sequence version replaced NM_001031698.2.
            Summary: This gene encodes a WW-domain containing protein similar
            to yeast splicing factor PRP40. This protein has been shown to
            interact with Huntingtin and methyl CpG binding protein 2 (MeCP2).
            Alternative splicing results in different transcript variants.
            [provided by RefSeq, Aug 2014].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3182
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..3182
                     /gene="PRPF40B"
                     /gene_synonym="HYPC"
                     /note="pre-mRNA processing factor 40 homolog B"
                     /db_xref="GeneID:25766"
                     /db_xref="HGNC:HGNC:25031"
     CDS             31..2709
                     /gene="PRPF40B"
                     /gene_synonym="HYPC"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Huntingtin interacting protein C; huntingtin yeast partner
                     C; PRP40 pre-mRNA processing factor 40 homolog B"
                     /codon_start=1
                     /product="pre-mRNA-processing factor 40 homolog B isoform
                     1"
                     /protein_id="NP_001026868.2"
                     /db_xref="CCDS:CCDS31796.2"
                     /db_xref="GeneID:25766"
                     /db_xref="HGNC:HGNC:25031"
                     /translation="MSVPDSGPRPPAAPAPFPPGPPMMPPPFMPPPGIPPPFPPMGLPP
                     MSQRPPAIPPMPPGILPPMLPPMGAPPPLTQIPGMVPPMMPGMLMPAVPVTAATAPGAD
                     TASSAVAGTGPPRALWSEHVAPDGRIYYYNADDKQSVWEKPSVLKSKAELLLSQCPWKE
                     YKSDTGKPYYYNNQSKESRWTRPKDLDDLEVLVKQEAAGKQQQQLPQTLQPQPPQPQPD
                     PPPVPPGPTPVPTGLLEPEPGGSEDCDVLEATQPLEQGFLQQLEEGPSSSGQHQPQQEE
                     EESKPEPERSGLSWSNREKAKQAFKELLRDKAVPSNASWEQAMKMVVTDPRYSALPKLS
                     EKKQAFNAYKAQREKEEKEEARLRAKEAKQTLQHFLEQHERMTSTTRYRRAEQTFGELE
                     VWAVVPERDRKEVYDDVLFFLAKKEKEQAKQLRRRNIQALKSILDGMSSVNFQTTWSQA
                     QQYLMDNPSFAQDHQLQNMDKEDALICFEEHIRALEREEEEERERARLRERRQQRKNRE
                     AFQTFLDELHETGQLHSMSTWMELYPAVSTDVRFANMLGQPGSTPLDLFKFYVEELKAR
                     FHDEKKIIKDILKDRGFCVEVNTAFEDFAHVISFDKRAAALDAGNIKLTFNSLLEKAEA
                     REREREKEEARRMRRREAAFRSMLRQAVPALELGTAWEEVRERFVCDSAFEQITLESER
                     IRLFREFLQVLETECQHLHTKGRKHGRKGKKHHHKRSHSPSGSESEEEELPPPSLRPPK
                     RRRRNPSESGSEPSSSLDSVESGGAALGGRGSPSSHLLGADHGLRKAKKPKKKTKKRRH
                     KSNSPESETDPEEKAGKESDEKEQEQDKDRELQQAELPNRSPGFGIKKEKTGWDTSESE
                     LSEGELERRRRTLLQQLDDHQ"
     polyA_site      3182
                     /gene="PRPF40B"
                     /gene_synonym="HYPC"
                     /note="major polyA site"
ORIGIN
        1 gagccggccc agctgctcgg aggctctggc atgtcggttc ccgattctgg tccccggccc
       61 ccagcagcgc ctgccccctt cccaccgggg ccccccatga tgccaccacc cttcatgccc
      121 cctccaggga tccccccacc ctttcctccg atggggctac cccccatgag tcagagacca
      181 ccagctatcc cccccatgcc acctggcatc ctgcccccaa tgcttccacc aatgggggcg
      241 ccaccaccac tcacacagat accaggaatg gtacctccga tgatgccagg aatgctgatg
      301 ccagcggtgc ctgtcaccgc agcgacggct ccgggtgcgg acaccgccag ctctgctgtg
      361 gctgggacag gccctccgag ggccctatgg agtgagcatg tggccccaga tgggcgcatc
      421 tactactaca atgctgacga caagcagtcc gtgtgggaga agcccagcgt gctcaagtcc
      481 aaggcagagc tgctcctgtc ccaatgtccc tggaaagagt acaagtcgga cacaggcaaa
      541 ccttattact ataacaacca gagtaaagag tcccgctgga cccggcccaa ggatctggat
      601 gacctagagg ttctagtcaa acaagaggct gcagggaaac agcagcagca gctgccacag
      661 acacttcagc cacagccacc tcagccacag cctgaccccc cacctgtgcc tcctggcccc
      721 accccagtgc ccacaggcct cctggaacct gagccaggtg ggagtgaaga ttgtgatgtg
      781 ttggaggcca cccagcccct ggaacagggg ttcctgcagc agctggagga gggccccagc
      841 agttctggac agcatcagcc acagcaggag gaggaggaat caaagccaga accagagagg
      901 tctggcctca gttggagcaa ccgggagaag gcaaagcagg cattcaagga actgctgagg
      961 gacaaggctg tcccctccaa tgcctcatgg gaacaggcca tgaagatggt ggtcaccgac
     1021 ccccgttaca gtgccttgcc taaactgagt gagaaaaagc aggcattcaa tgcctacaag
     1081 gcgcagcggg agaaggagga gaaggaggag gcccggctaa gggccaaaga ggccaagcag
     1141 accctgcagc atttcctgga gcagcatgaa cgcatgacct ccaccacccg ctaccggcgg
     1201 gcagaacaga cctttgggga gctggaggtc tgggctgtgg tccctgagag ggatcgaaaa
     1261 gaggtttatg atgatgtcct cttcttcctg gccaagaagg agaaggaaca ggccaagcag
     1321 ctccggcgcc gcaatatcca ggccctaaag agcatcctgg atgggatgag tagtgtcaac
     1381 ttccaaacca cgtggtccca ggcccagcag tacctcatgg ataaccccag ctttgctcag
     1441 gaccatcagc tgcagaacat ggacaaggaa gatgcactga tctgttttga ggagcacatc
     1501 cgagctttgg agagggaaga ggaggaggaa cgggagcggg cccggcttcg ggagcgacgc
     1561 caacaacgca agaatcggga ggccttccag accttcctgg acgagctgca tgagacaggg
     1621 cagctgcact ctatgtccac ctggatggag ctatatccag cagtcagcac tgatgtccgc
     1681 tttgccaaca tgctgggcca gccgggctcc acccctctgg acttattcaa gttctatgtg
     1741 gaggagttga aggcacgatt ccatgatgaa aagaagatca ttaaggacat ccttaaggac
     1801 cggggcttct gcgtggaggt gaacacggcc tttgaggact tcgcccacgt cataagcttt
     1861 gacaagaggg ctgccgcact ggacgcaggc aacatcaagc tgaccttcaa tagtctgctg
     1921 gagaaagcag aggcacggga gagggagcgg gagaaggagg aggcacgcag gatgcggcgc
     1981 agggaagctg cctttcgaag catgctgagg caggctgtgc ctgctctgga gctaggcact
     2041 gcctgggaag aggtccgtga gcgttttgtg tgtgactcag cctttgagca gatcaccctg
     2101 gagtcggagc ggatccggct cttccgggag ttcctacagg tgctggagac tgaatgccag
     2161 cacctccaca ccaaaggccg aaagcatggc aggaaaggca agaagcacca tcacaagcgt
     2221 tcccactcac cctcaggctc tgagtcagaa gaagaggagc tgcccccacc atctctccgg
     2281 ccccccaagc ggaggaggcg gaacccctca gagtcaggct ctgagccctc ttcctcactt
     2341 gattcagttg aaagtggggg tgctgccctt ggaggacggg gctccccttc ctcccatctt
     2401 cttggagcag atcatggcct tcggaaagcc aagaaaccaa aaaagaaaac taagaagaga
     2461 agacacaagt cgaatagtcc tgagagtgag acagaccctg aggagaaagc tggcaaggag
     2521 agcgatgaga aagaacaaga acaggacaag gacagggagc tccaacaggc agagctccct
     2581 aaccgttccc caggctttgg aatcaagaag gagaagacag gctgggacac gtcagaaagt
     2641 gagctgagtg agggtgagct ggagaggcgg cggcggacac tcctacagca gctggatgat
     2701 caccagtgac ccaatgagct gttctctgcc tcgggtctgt gtgaggccat ggctcctggg
     2761 ccaccctcac cgtctgcctc agacttcttc cttagtctgg tctgtgtcca ctttttctaa
     2821 agtaacccca cccccagcac accattgttg gcacctctca aggttgctct tggtgttcaa
     2881 gggtccccta ctccctggac tagtgcagtc cttgccctca gccccagacc agagatgggt
     2941 ggtatatgcc atgtggggtg ggtgatgcca gtagataaaa gtgtgagaga aggggtctcc
     3001 agggaagagt cacaggctgt tggacgcagc ctgggtggca gagggcaggg tcatcaccct
     3061 ctagcatcag tgcctgctcc tgcctgccct ggccctgagg ctccaccact tcttcctcca
     3121 cccaggacct aatgtacgtg tgttttgttt tttgtttttt aaataacaat atttataaca
     3181 tg
//
LOCUS       NM_001031701            7244 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.
ACCESSION   NM_001031701
VERSION     NM_001031701.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7244)
  AUTHORS   Ghai R, Bugarcic A, Liu H, Norwood SJ, Skeldal S, Coulson EJ, Li SS,
            Teasdale RD and Collins BM.
  TITLE     Structural basis for endosomal trafficking of diverse transmembrane
            cargos by PX-FERM proteins
  JOURNAL   Proc Natl Acad Sci U S A 110 (8), E643-E652 (2013)
   PUBMED   23382219
REFERENCE   2  (bases 1 to 7244)
  AUTHORS   Sampietro ML, Trompet S, Verschuren JJ, Talens RP, Deelen J,
            Heijmans BT, de Winter RJ, Tio RA, Doevendans PA, Ganesh SK, Nabel
            EG, Westra HJ, Franke L, van den Akker EB, Westendorp RG, Zwinderman
            AH, Kastrati A, Koch W, Slagboom PE, de Knijff P and Jukema JW.
  TITLE     A genome-wide association study identifies a region at chromosome 12
            as a potential susceptibility locus for restenosis after
            percutaneous coronary intervention
  JOURNAL   Hum Mol Genet 20 (23), 4748-4757 (2011)
   PUBMED   21878436
REFERENCE   3  (bases 1 to 7244)
  AUTHORS   Lesch KP, Timmesfeld N, Renner TJ, Halperin R, Roser C, Nguyen TT,
            Craig DW, Romanos J, Heine M, Meyer J, Freitag C, Warnke A, Romanos
            M, Schafer H, Walitza S, Reif A, Stephan DA and Jacob C.
  TITLE     Molecular genetics of adult ADHD: converging evidence from
            genome-wide association and extended pedigree linkage studies
  JOURNAL   J Neural Transm (Vienna) 115 (11), 1573-1585 (2008)
   PUBMED   18839057
REFERENCE   4  (bases 1 to 7244)
  AUTHORS   van den Akker E, Vankan-Berkhoudt Y, Valk PJ, Lowenberg B and Delwel
            R.
  TITLE     The common viral insertion site Evi12 is located in the 5'-noncoding
            region of Gnn, a novel gene with enhanced expression in two
            subclasses of human acute myeloid leukemia
  JOURNAL   J Virol 79 (9), 5249-5258 (2005)
   PUBMED   15827139
REFERENCE   5  (bases 1 to 7244)
  AUTHORS   Yatsuoka T, Furukawa T, Sunamura M, Matsuno S and Horii A.
  TITLE     TU12B1-TY, a novel gene in the region at 12q22-q23.1 frequently
            deleted in pancreatic cancer, shows reduced expression in pancreatic
            cancer cells
  JOURNAL   Oncol Rep 12 (6), 1263-1268 (2004)
   PUBMED   15547748
  REMARK    GeneRIF: TU12B1-TY may contribute to the development and/or
            progression of human pancreatic cancer
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB032773.1, BC052293.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000392876.8/ ENSP00000376615.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012555.27, BC052293.1 and AC025265.21.
            On Nov 23, 2018 this sequence version replaced NM_001031701.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7244
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.3"
     gene            1..7244
                     /gene="NT5DC3"
                     /gene_synonym="TU12B1-TY; TU12B1TY"
                     /note="5'-nucleotidase domain containing 3"
                     /db_xref="GeneID:51559"
                     /db_xref="HGNC:HGNC:30826"
                     /db_xref="MIM:611076"
     CDS             79..1725
                     /gene="NT5DC3"
                     /gene_synonym="TU12B1-TY; TU12B1TY"
                     /codon_start=1
                     /product="5'-nucleotidase domain-containing protein 3"
                     /protein_id="NP_001026871.1"
                     /db_xref="CCDS:CCDS41824.1"
                     /db_xref="GeneID:51559"
                     /db_xref="HGNC:HGNC:30826"
                     /db_xref="MIM:611076"
                     /translation="MTMAAAAVVARGAGARAATAAALRGGCGTAARGRPCAGPARPLCT
                     APGTAPDMKRYLWERYREAKRSTEELVPSIMSNLLNPDAIFSNNEMSLSDIEIYGFDYD
                     YTLVFYSKHLHTLIFNAARDLLINEHRYPAEIRKYEYDPNFAIRGLHYDVQRAVLMKID
                     AFHYIQLGTVYRGLSVVPDEEVIEMYEGSHVPLEQMSDFYGKSSHGNTMKQFMDIFSLP
                     EMTLLSCVNEYFLKNNIDYEPVHLYKDVKDSIRDVHIKGIMYRAIEADIEKYICYAEQT
                     RAVLAKLADHGKKMFLITNSPSSFVDKGMSYIVGKDWRDLFDVVIVQAEKPNFFNDKRR
                     PFRKMNEKGVLLWDKIHKLQKGQIYKQGNLYEFLKLTGWRGSRVLYFGDHIYSDLADLT
                     LKHGWRTGAIIPELRSELKIMNTEQYIQTMTWLQTLTGLLEQMQVHRDAESQLVLQEWK
                     KERKEMREMTKSFFNAQFGSLFRTDQNPTYFLRRLSRFADIYMASLSCLLNYDVSHTFY
                     PRRTPLQHELPAWSERPPTFGTPLLQEAQAK"
     misc_feature    1660..1722
                     /gene="NT5DC3"
                     /gene_synonym="TU12B1-TY; TU12B1TY"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86UY8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      7226..7231
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NT5DC3"
                     /gene_synonym="TU12B1-TY; TU12B1TY"
                     /note="hexamer: AATAAA"
     polyA_site      7244
                     /gene="NT5DC3"
                     /gene_synonym="TU12B1-TY; TU12B1TY"
                     /note="major polyA site"
ORIGIN
        1 agagcgcggg tagatcttgg gccgggcagc agcagtcgca gagcggcgcg gcggcggtgg
       61 cggcagcagg cagcaggcat gaccatggca gcggcggcgg tggtggcacg cggggccggg
      121 gcgagggcag cgacagcggc ggctttgcgg ggtggctgcg ggaccgcggc tcgggggcgg
      181 ccgtgtgcgg gccccgcccg gcccttgtgc actgcacccg ggaccgcccc ggacatgaag
      241 cgctacctgt gggagcgcta ccgggaggcg aagagaagca cagaagaatt ggttccttcc
      301 attatgagca acttgttgaa tccagatgcc attttctcaa acaatgaaat gagcctgtca
      361 gacattgaaa tctatggctt cgattatgat tacaccttgg tgttttattc aaagcacctc
      421 cacacgctga tatttaatgc tgcacgggac cttctcatca atgaacaccg gtatccagca
      481 gaaatcagga agtatgagta tgacccaaat tttgcaattc gtggacttca ttatgatgta
      541 cagcgggcag tattaatgaa gatcgatgct tttcattata tccagctggg aactgtctac
      601 agaggcctca gtgttgtccc tgatgaagaa gtcattgaaa tgtacgaggg gtcccacgtg
      661 cccttggagc agatgagtga cttttacgga aagagctctc atggaaacac gatgaagcag
      721 ttcatggaca tcttctccct gcccgagatg accctcctgt cctgcgtgaa tgaatacttc
      781 ctcaagaaca acatcgacta tgagcctgtg catctgtaca aagatgtcaa ggattcaatt
      841 cgagacgtcc acatcaaagg aataatgtac agagcaattg aagcagacat tgaaaagtac
      901 atctgctatg ctgagcagac ccgcgcagtg ttggccaaac tggctgatca tggcaagaag
      961 atgtttctca tcaccaatag ccccagtagc tttgtggaca aagggatgag ttatatcgtt
     1021 gggaaagact ggagggacct gttcgatgtg gtcattgttc aggctgagaa gccaaacttc
     1081 tttaatgata agcggaggcc tttccgaaag atgaatgaga aaggtgtctt actctgggat
     1141 aaaatccata agttgcagaa aggccagata tacaagcagg gtaatttata tgaatttttg
     1201 aagcttactg gatggagagg atccagagtg ttgtattttg gtgaccatat atacagtgac
     1261 ctggcggatt tgaccctaaa gcatggctgg aggactggtg caatcatccc agagttgaga
     1321 tctgagctca aaatcatgaa cacggagcaa tacattcaaa ccatgacctg gctgcagacc
     1381 ttgactggct tattggaaca gatgcaggtt cacagagatg ctgagtcaca gctggttttg
     1441 caggagtgga aaaaggaaag gaaggagatg cgagaaatga ccaagagttt cttcaatgcc
     1501 cagtttggaa gcctgttccg cacagaccag aacccaacct acttcctaag gcgcctgtcg
     1561 cgcttcgctg acatctacat ggcgtctctg agctgcctcc tgaactatga cgtcagccac
     1621 actttctacc cccggaggac tccactgcag cacgaactgc ccgcctggtc agaaaggccc
     1681 cccaccttcg gaacccctct cctgcaggag gcccaggcca agtagccaag ggcaaaaact
     1741 agaaactgta actgcccctg attgggcagg catgatgggg ttgacttcat gtgggtctga
     1801 gtgttgcttt tggaaaagat acagataagc cttttgatat ttattttgta ccttacggag
     1861 aataattctc ccaatggtta agacaggagc tagcagccca cccctccagc ctttcccccc
     1921 atgcagggct gaaaggcaag cttcacattg gaactctgat tttgcctttt tgtttactga
     1981 ggtcctggaa catcaggttt cctgggatag gtgagaccac ttgatgccat gtctgtattc
     2041 tagcaggtca agcttgaaac ggttcttgac tcctccatgg aacatttcct gaacatttac
     2101 gggctatgca ttgggaactg caggggcaca gtgatgggca aagattagct gcttccagaa
     2161 ggctgatttc gtgggctcca caatggtaaa acgctgctgt gagtggcaga gaggttcccc
     2221 aggtgatggc cagttcccaa atcatttggt actaaggctt tgacattctg gcacatcaca
     2281 tcaaatagaa cacagcctcc ctggaaggac ttaagtgaga aagaacaaga gaagctgcaa
     2341 ctcctggacc cttttgtcct cagtgtgtgg ttcctgcgtc cttccccagc atggaggagg
     2401 gcaggagaga ggagatgaga gctctggtca aaacctgcca gctagtggaa cagccttctg
     2461 tagagccttc tgcaagaaac gagtgggttt gaagaaccaa aacatttgtg gtaggtctcc
     2521 caggagcttg ttaaacctgg aaacaccacc tgagttggtt tcatctgctc attggaagaa
     2581 agaaaatgaa ccaggaaaaa gcatctttgt catgaaatgc tatgccatgc cacccaccca
     2641 gttgaattgg aatcctgtta aaacatgaga tttaccagaa acagtccttt gtctagatgg
     2701 aaacaaacaa gatcctggct tctctctaat gagttaccaa ctgagaggtg cttggattgg
     2761 ccaggggagg aggaagatgg ccaccacaac ttagccatgt ccagccttct cttagatttc
     2821 actcctgtga tgtttgtgcg actatttggg agtttgtgta gtttgttttt tttttttttg
     2881 ttttgttttg ttttttttta gatgtctaag atgggaaagg gcgaaggaca ttgaagctaa
     2941 ggaatagata tgacctagct aaccaagctt ttctcatttc cttctgtttt gttttgttga
     3001 gatggagttt tgctcttatt gcccaggctg gagtgcagtg gcacaatctc agctcactgc
     3061 aacctctgcc tcccgggttc aagcgattct cctgcctcag cctcccaagt agctgggatt
     3121 acaggcatgc actaccacac ccagctaatt ttgtatttct agtagagatg gggtttctcc
     3181 atgttggtca ggctggtctc gaactcccga cctcagataa tctgcccgcc ttggcctccc
     3241 aaattgctgg gattacaggt gtgagccacc gcacctggcc tgcttttttc atttctttct
     3301 aggggcaatg caagtggcat gtattccttt tgttggaggg aagaatcctt aattgcacct
     3361 gcatttgtag tatccttcaa tgtaaagtgc atatttactg cactctctga gtgctatggg
     3421 aatgtctgct gttattagtt atggggctgc taatactgtt ttaattgcat atgctatatc
     3481 aatacttctg ttcagattag cctaatctag tattgctaaa actcatttta agcttttgcg
     3541 gtaacttgta tatattctta aatctaaagg atggcaggaa catgagggga gcttgtggag
     3601 agtgcttgct tattcaacat ttttattgtg ataaatgtat gtaaccatct attgatgaaa
     3661 tccaagtctg gcattccatg ggctccttgc cagatggcag aaacttaatg agttatatag
     3721 catcctttgt aatgctgctt gttatagttg gaatgtactt gtgatatttg gctgtattta
     3781 actataatgg tgaaggtgac cctttagatc caataaggct tctccccatc ttctacattt
     3841 tgttatgaac acagtaaggc acagtagtat gttctttttt tggaacaggg taggcatttt
     3901 gtttattgtt tgcttgcttc taggtgtttt cgccatcagg gtgtattgga ggctgacact
     3961 taatgggtgt gtgttgcgcc cagaactgct cggtgtcggg gttctaaaag aatgcgctgg
     4021 tgttcttggc ttcaagtttc tgctttggag aagcagattc aggaagtagg tgttgcttaa
     4081 aaataattct tggtttttat ctaatcagat attcattgat tacctaccag gtgccagtta
     4141 tagggtgttt tgtttactca agaatgaagt agaactattt ttaaaacctg tttccatgag
     4201 tgttcacgtt aggtgaccta agctttgaag gagaaaaaca tttttgggta tgaataatga
     4261 gttttgtaat caattcccag ttagaagaat ttcagtctct gggccattga gcttggcagt
     4321 gttgagatct cccatgtgac agaagcctga catctgggcc accaaggctc actgactgtg
     4381 taccttgcag actgtagacc catgtcgtgg cggtaacggg gccgaacaca gtcattccca
     4441 tgtgaacgat ggaggcacat cccactttat tattaatcct tgtatatact cagtcaggac
     4501 agattttaac ttgtcgctgt catgactttt tttttttttt tttgaggcaa ggtctcgctc
     4561 tgttgcccat tctggagtgc agtggtgtga tctcggctca ctgcaacctc ttgcctccca
     4621 ggttcaagca attttcgtgc ctcagcctcc cgagtagctg ggactactgg tacatgccac
     4681 caggcctggc caagttttgt agttttaata gagatggggt ttcaccatgt tggccaggct
     4741 ggtctcaaac tcctagcctc aagtgttctg cccacctcag ccttccaaag tgctgggatt
     4801 ctgggtgtga gccactgtca tgcctggcct cgtcatgact cttttctctt tttttttttt
     4861 tttttttttg agatttagtt ttgctctttt tgcccaggcc ggagtgcaat ggcacgatct
     4921 tggctcactc caacctccgc ctcctgggtt caagtgattc tcctgcctca gcctcccgag
     4981 tagctgggat tacaggtgcc caccaccaca tccagctaat ttttttgtat ttttagtaga
     5041 gacggggttt caccatgttg gccaggctgg tctcgaactc ctgaccttgg gtaatccacc
     5101 tgccttggcc tcccaaggtg ctgggattac aggcatgagc caccgtgccc agcctatcat
     5161 gactcaactg ggatctggca cactgcactg ggtgttttgt tctctgatgt gcacattgat
     5221 gaatgcatat tggtacaagg gaaatgaatc tgttttcagc catttaaaaa attgtgttgt
     5281 aaagcaaaca aaaatagctt gaacatttaa aaattactgt ttaatattgt ttgactgatt
     5341 ttctaagaat tatgtgaaca atgatgagtc cagggcagca gccatcacaa atatgacagt
     5401 ccagcaaggc ccatggaggt ccctttggaa gggacttgca cagctgattt tctttttcca
     5461 gtgttgtttt tacgggtgaa acgtggcttt tgaaatactt tagttgtttg gcttagagct
     5521 cccactttcc ccctaacata gtgcctgtct gttttttaaa acattttacc cttcggcact
     5581 attttctgct attcccatta atattatgta acataaacca cttgctactg atttgggcat
     5641 attacagact acaattacta gttgctttga atgcattggc actcttaatt attgcaaagg
     5701 agaattgaaa agtagtcttg tggtcctagt taatttagct ttgggcaaac taagtggctt
     5761 ttcttctgtc ctcttctcaa aaggcctttt aagcagcaga gactgggcta aatactggaa
     5821 ctgaattcca cttttctgcc tgctcatttg ctgccaaaga ccacttgggg ctccttgtct
     5881 agaatgctct aagacgaaat ttggccagac acagggttcc ttgattgttc tgttcaacta
     5941 atagagaacc tacattttgc cttcttaata tcgactttct tttgtaccag gtttttcttt
     6001 ctttcttttt tgccttagga gcttagctca aagttcagct aacctttgac actactagtg
     6061 tcatttagta acagtaatct ttgacactac tagtgtcatt taggagctta gctcaaagtt
     6121 cagctaacct ttgacactgc tagtgcgttc aagaaagggt agggaatgaa gtacccttaa
     6181 tgcagggtca gcaaactttt cctgtaaaag gccagatagg aagtattttt ggctttttgg
     6241 gctgtttgct tttgctacta ctactgtggg aatgaccatg gtcatggctg tgttccagca
     6301 caacttgatt taccaagaca agctgtgggc tgtatttggt cctcaggctg tggcttgcta
     6361 gcccctgctc taatggattg tgttggcggc aatggcaaga ttcccttgct gagaacatgc
     6421 agatgaataa ccttatagct gggatgcaga gaggagaaag ttctgtaggt aataagtgca
     6481 ctgtattccc tctgagctac ttcctgggca tagttacatg tatggccagt gtgtgtactt
     6541 gagccatcag gctcagacac ttgttgaata tacctctcat tgcattagtt tgtaattgtg
     6601 ctagtgctgg gtgctgagct cagctgcccg gatgaccttt ccagactgaa ggacatactc
     6661 ccctaacagc tgggagtgct gctggctggc catttacttc cagcccttat gaggagtttc
     6721 ccctgctgaa gagccctgcc tgccccagat cataccccct tcctgcctgt aacccttacc
     6781 ggctccatat ggggtacaaa gggctggcct cctcacccca acttgggaaa ccctctgggg
     6841 ccatcccagc tccagagccc cttgtggggt cagtgagacc tcattgtggc cacattacag
     6901 cccagtgcct ctccctgaca agcctgtacc cagccggctc agcccacagc actgtcctat
     6961 gaaccttcct gcacgccatt ctccacctca gtatctgctt tcggggaacc caacctgcga
     7021 cagtgcttct gtgtgttttc agtcctgcag gtttgaactc tgactttgga gacttttcca
     7081 gttatctcgt ggaatgacag attgtgcctg tatgatatca ggcacaatta atgcaaatta
     7141 ggcagaccta tttattctag atgtgaattt gctatttatt ttaaatgttg attttatgtg
     7201 ttatgtgact ctgaacttat tgccaaataa aagtttgaat tgta
//
LOCUS       NM_001031702            4855 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens semaphorin 5B (SEMA5B), transcript variant 1, mRNA.
ACCESSION   NM_001031702
VERSION     NM_001031702.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4855)
  AUTHORS   Maki-Nevala,S., Sarhadi,V.K., Knuuttila,A., Scheinin,I., Ellonen,P.,
            Lagstrom,S., Ronty,M., Kettunen,E., Husgafvel-Pursiainen,K.,
            Wolff,H. and Knuutila,S.
  TITLE     Driver Gene and Novel Mutations in Asbestos-Exposed Lung
            Adenocarcinoma and Malignant Mesothelioma Detected by Exome
            Sequencing
  JOURNAL   Lung 194 (1), 125-135 (2016)
   PUBMED   26463840
  REMARK    GeneRIF: SEMA5B could possibly serve as a candidate gene for
            alterations associated with asbestos exposure.
REFERENCE   2  (bases 1 to 4855)
  AUTHORS   Wu C, Hu Z, He Z, Jia W, Wang F, Zhou Y, Liu Z, Zhan Q, Liu Y, Yu D,
            Zhai K, Chang J, Qiao Y, Jin G, Liu Z, Shen Y, Guo C, Fu J, Miao X,
            Tan W, Shen H, Ke Y, Zeng Y, Wu T and Lin D.
  TITLE     Genome-wide association study identifies three new susceptibility
            loci for esophageal squamous-cell carcinoma in Chinese populations
  JOURNAL   Nat Genet 43 (7), 679-684 (2011)
   PUBMED   21642993
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4855)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction Assessment
            with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (bases 1 to 4855)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 4855)
  AUTHORS   O'Connor TP, Cockburn K, Wang W, Tapia L, Currie E and Bamji SX.
  TITLE     Semaphorin 5B mediates synapse elimination in hippocampal neurons
  JOURNAL   Neural Dev 4, 18 (2009)
   PUBMED   19463192
  REMARK    GeneRIF: Sema5B regulates the development and maintenance of synapse
            size and number in hippocampal neurons. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 4855)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   7  (bases 1 to 4855)
  AUTHORS   Adams RH, Betz H and Puschel AW.
  TITLE     A novel class of murine semaphorins with homology to thrombospondin
            is differentially expressed during early embryogenesis
  JOURNAL   Mech Dev 57 (1), 33-45 (1996)
   PUBMED   8817451
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB040878.1, BC077726.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000357599.8/ ENSP00000350215.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA115188.1, DA797213.1, AB040878.1, BC077726.1, AK091481.1,
            BC002776.2 and AC078794.13.
            On May 17, 2019 this sequence version replaced NM_001031702.3.
            Summary: This gene encodes a member of the semaphorin protein
            family which regulates axon growth during development of the
            nervous system. The encoded protein has a characteristic Sema
            domain near the N-terminus, through which semaphorins bind to
            plexin, and five thrombospondin type 1 repeats in the C-terminal
            region of the protein. The protein product may be cleaved and exist
            as a secreted molecule (PMID: 19463192). Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jan 2012].
            Transcript Variant: This variant (1) encodes isoform 1. Variants 1
            and 2 encode the same protein (isoform 1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4855
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.1"
     gene            1..4855
                     /gene="SEMA5B"
                     /gene_synonym="SEMAG; SemG"
                     /note="semaphorin 5B"
                     /db_xref="GeneID:54437"
                     /db_xref="HGNC:HGNC:10737"
                     /db_xref="MIM:609298"
     CDS             339..3794
                     /gene="SEMA5B"
                     /gene_synonym="SEMAG; SemG"
                     /note="isoform 1 is encoded by transcript variant 1; sema
                     domain, seven thrombospondin repeats (type 1 and type
                     1-like), transmembrane domain (TM) and short cytoplasmic
                     domain, (semaphorin) 5B"
                     /codon_start=1
                     /product="semaphorin-5B isoform 1"
                     /protein_id="NP_001026872.2"
                     /db_xref="CCDS:CCDS35491.1"
                     /db_xref="GeneID:54437"
                     /db_xref="HGNC:HGNC:10737"
                     /db_xref="MIM:609298"
                     /translation="MPCGFSPSPVAHHLVPGPPDTPAQQLRCGWTVGGWLLSLVRGLLP
                     CLPPGARTAEGPIMVLAGPLAVSLLLPSLTLLVSHLSSSQDVSSEPSSEQQLCALSKHP
                     TVAFEDLQPWVSNFTYPGARDFSQLALDPSGNQLIVGARNYLFRLSLANVSLLQATEWA
                     SSEDTRRSCQSKGKTEEECQNYVRVLIVAGRKVFMCGTNAFSPMCTSRQVGNLSRTIEK
                     INGVARCPYDPRHNSTAVISSQGELYAATVIDFSGRDPAIYRSLGSGPPLRTAQYNSKW
                     LNEPNFVAAYDIGLFAYFFLRENAVEHDCGRTVYSRVARVCKNDVGGRFLLEDTWTTFM
                     KARLNCSRPGEVPFYYNELQSAFHLPEQDLIYGVFTTNVNSIAASAVCAFNLSAISQAF
                     NGPFRYQENPRAAWLPIANPIPNFQCGTLPETGPNENLTERSLQDAQRLFLMSEAVQPV
                     TPEPCVTQDSVRFSHLVVDLVQAKDTLYHVLYIGTESGTILKALSTASRSLHGCYLEEL
                     HVLPPGRREPLRSLRILHSARALFVGLRDGVLRVPLERCAAYRSQGACLGARDPYCGWD
                     GKQQRCSTLEDSSNMSLWTQNITACPVRNVTRDGGFGPWSPWQPCEHLDGDNSGSCLCR
                     ARSCDSPRPRCGGLDCLGPAIHIANCSRNGAWTPWSSWALCSTSCGIGFQVRQRSCSNP
                     APRHGGRICVGKSREERFCNENTPCPVPIFWASWGSWSKCSSNCGGGMQSRRRACENGN
                     SCLGCGVEFKTCNPEGCPEVRRNTPWTPWLPVNVTQGGARQEQRFRFTCRAPLADPHGL
                     QFGRRRTETRTCPADGSGSCDTDALVEVLLRSGSTSPHTVSGGWAAWGPWSSCSRDCEL
                     GFRVRKRTCTNPEPRNGGLPCVGDAAEYQDCNPQACPVRGAWSCWTSWSPCSASCGGGH
                     YQRTRSCTSPAPSPGEDICLGLHTEEALCATQACPEGWSPWSEWSKCTDDGAQSRSRHC
                     EELLPGSSACAGNSSQSRPCPYSEIPVILPASSMEEATDCAGFNLIHLVATGISCFLGS
                     GLLTLAVYLSCQHCQRQSQESTLVHPATPNHLHYKGGGTPKNEKYTPMEFKTLNKNNLI
                     PDDRANFYPLQQTNVYTTTYYPSPLNKHSFRPEASPGQRCFPNS"
     misc_feature    795..797
                     /gene="SEMA5B"
                     /gene_synonym="SEMAG; SemG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9P283.4); glycosylation site"
     misc_feature    1044..1046
                     /gene="SEMA5B"
                     /gene_synonym="SEMAG; SemG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9P283.4); glycosylation site"
     misc_feature    1371..1373
                     /gene="SEMA5B"
                     /gene_synonym="SEMAG; SemG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9P283.4); glycosylation site"
     misc_feature    1644..1646
                     /gene="SEMA5B"
                     /gene_synonym="SEMAG; SemG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9P283.4); glycosylation site"
     misc_feature    2700..2702
                     /gene="SEMA5B"
                     /gene_synonym="SEMAG; SemG"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9P283.4); glycosylation site"
     misc_feature    3447..3509
                     /gene="SEMA5B"
                     /gene_synonym="SEMAG; SemG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P283.4);
                     transmembrane region"
     regulatory      4722..4727
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEMA5B"
                     /gene_synonym="SEMAG; SemG"
                     /note="hexamer: ATTAAA"
     polyA_site      4741
                     /gene="SEMA5B"
                     /gene_synonym="SEMAG; SemG"
                     /note="major polyA site"
ORIGIN
        1 ctccctgctc tctccgagcg ccgggtcggg agctagttgg agcgcggggg ttggtgccag
       61 agcccagctc cgccgagccg ggcgggtcgg cagcgcatcc agcggctgct gggagcccga
      121 gcgcagcggg cgcgggcccg ggtggggact gcaccggagc gctgagagct ggaggccgtt
      181 cctgcgcggc cgccccattc ccagaccggc cgccagccca tctggttagc tcccgccgct
      241 ccgcgccgcc cgggagtcgg gagccgcggg gaaccgggca cctgcacccg cctctgggag
      301 tgagtggttc cagctggtgc ctggcctgtg tctcttggat gccctgtggc ttcagtccgt
      361 ctcctgttgc ccaccacctc gtccctgggc cgcctgatac cccagcccaa cagctaaggt
      421 gtggatggac agtagggggc tggcttctct cactggtcag gggtcttctc ccctgtctgc
      481 ctcccggagc taggactgca gaggggccta tcatggtgct tgcaggcccc ctggctgtct
      541 cgctgttgct gcccagcctc acactgctgg tgtcccacct ctccagctcc caggatgtct
      601 ccagtgagcc cagcagtgag cagcagctgt gcgcccttag caagcacccc accgtggcct
      661 ttgaagacct gcagccgtgg gtctctaact tcacctaccc tggagcccgg gatttctccc
      721 agctggcttt ggacccctcc gggaaccagc tcatcgtggg agccaggaac tacctcttca
      781 gactcagcct tgccaatgtc tctcttcttc aggccacaga gtgggcctcc agtgaggaca
      841 cgcgccgctc ctgccaaagc aaagggaaga ctgaggagga gtgtcagaac tacgtgcgag
      901 tcctgatcgt cgccggccgg aaggtgttca tgtgtggaac caatgccttt tcccccatgt
      961 gcaccagcag acaggtgggg aacctcagcc ggactattga gaagatcaat ggtgtggccc
     1021 gctgccccta tgacccacgc cacaactcca cagctgtcat ctcctcccag ggggagctct
     1081 atgcagccac ggtcatcgac ttctcaggtc gggaccctgc catctaccgc agcctgggca
     1141 gtgggccacc gcttcgcact gcccaatata actccaagtg gcttaatgag ccaaacttcg
     1201 tggcagccta tgatattggg ctgtttgcat acttcttcct gcgggagaac gcagtggagc
     1261 acgactgtgg acgcaccgtg tactctcgcg tggcccgcgt gtgcaagaat gacgtggggg
     1321 gccgattcct gctggaggac acatggacca cattcatgaa ggcccggctc aactgctccc
     1381 gcccgggcga ggtccccttc tactataacg agctgcagag tgccttccac ttgccggagc
     1441 aggacctcat ctatggagtt ttcacaacca acgtaaacag catcgcggct tctgctgtct
     1501 gcgccttcaa cctcagtgct atctcccagg ctttcaatgg cccatttcgc taccaggaga
     1561 accccagggc tgcctggctc cccatagcca accccatccc caatttccag tgtggcaccc
     1621 tgcctgagac cggtcccaac gagaacctga cggagcgcag cctgcaggac gcgcagcgcc
     1681 tcttcctgat gagcgaggcc gtgcagccgg tgacacccga gccctgtgtc acccaggaca
     1741 gcgtgcgctt ctcacacctc gtggtggacc tggtgcaggc taaagacacg ctctaccatg
     1801 tactctacat tggcaccgag tcgggcacca tcctgaaggc gctgtccacg gcgagccgca
     1861 gcctccacgg ctgctacctg gaggagctgc acgtgctgcc ccccgggcgc cgcgagcccc
     1921 tgcgcagcct gcgcatcctg cacagcgccc gcgcgctctt cgtggggctg agagacggcg
     1981 tcctgcgggt cccactggag aggtgcgccg cctaccgcag ccagggggca tgcctggggg
     2041 cccgggaccc gtactgtggc tgggacggga agcagcaacg ttgcagcaca ctcgaggaca
     2101 gctccaacat gagcctctgg acccagaaca tcaccgcctg tcctgtgcgg aatgtgacac
     2161 gggatggggg cttcggccca tggtcaccat ggcaaccatg tgagcacttg gatggggaca
     2221 actcaggctc ttgcctgtgt cgagctcgat cctgtgattc ccctcgaccc cgctgtgggg
     2281 gccttgactg cctggggcca gccatccaca tcgccaactg ctccaggaat ggggcgtgga
     2341 ccccgtggtc atcgtgggcg ctgtgcagca cgtcctgtgg catcggcttc caggtccgcc
     2401 agcgaagttg cagcaaccct gctccccgcc acgggggccg catctgcgtg ggcaagagcc
     2461 gggaggaacg gttctgtaat gagaacacgc cttgcccggt gcccatcttc tgggcttcct
     2521 ggggctcctg gagcaagtgc agcagcaact gtggaggggg catgcagtcg cggcgtcggg
     2581 cctgcgagaa cggcaactcc tgcctgggct gcggcgtgga gttcaagacg tgcaaccccg
     2641 agggctgccc cgaagtgcgg cgcaacaccc cctggacgcc gtggctgccc gtgaacgtga
     2701 cgcagggcgg ggcacggcag gagcagcggt tccgcttcac ctgccgcgcg ccccttgcag
     2761 acccgcacgg cctgcagttc ggcaggagaa ggaccgagac gaggacctgt cccgcggacg
     2821 gctccggctc ctgcgacacc gacgccctgg tggaggtcct cctgcgcagc gggagcacct
     2881 ccccgcacac ggtgagcggg ggctgggccg cctggggccc gtggtcgtcc tgctcccggg
     2941 actgcgagct gggcttccgc gtccgcaaga gaacgtgcac taacccggag ccccgcaacg
     3001 ggggcctgcc ctgcgtgggc gatgctgccg agtaccagga ctgcaacccc caggcttgcc
     3061 cagttcgggg tgcttggtcc tgctggacct catggtctcc atgctcagct tcctgtggtg
     3121 ggggtcacta tcaacgcacc cgttcctgca ccagccccgc accctcccca ggtgaggaca
     3181 tctgtctcgg gctgcacacg gaggaggcac tatgtgccac acaggcctgc ccagaaggct
     3241 ggtcgccctg gtctgagtgg agtaagtgca ctgacgacgg agcccagagc cgaagccggc
     3301 actgtgagga gctcctccca gggtccagcg cctgtgctgg aaacagcagc cagagccgcc
     3361 cctgccccta cagcgagatt cccgtcatcc tgccagcctc cagcatggag gaggccaccg
     3421 actgtgcagg gttcaatctc atccacttgg tggccacggg catctcctgc ttcttgggct
     3481 ctgggctcct gaccctagca gtgtacctgt cttgccagca ctgccagcgt cagtcccagg
     3541 agtccacact ggtccatcct gccaccccca accatttgca ctacaagggc ggaggcaccc
     3601 cgaagaatga aaagtacaca cccatggaat tcaagaccct gaacaagaat aacttgatcc
     3661 ctgatgacag agccaacttc tacccattgc agcagaccaa tgtgtacacg actacttact
     3721 acccaagccc cctgaacaaa cacagcttcc ggcccgaggc ctcacctgga caacggtgct
     3781 tccccaacag ctgataccgc cgtcctgggg acttgggctt cttgccttca taaggcacag
     3841 agcagatgga gatgggacag tggagccagt ttggttttct ccctctgcac taggccaaga
     3901 acttgctgcc ttgcctgtgg ggggtcccat ccggcttcag agagctctgg ctggcattga
     3961 ccatggggga aagggctggt ttcaggctga catatggccg caggtccagt tcagcccagg
     4021 tctctcatgg ttatcttcca acccactgtc acgctgacac tatgctgcca tgcctgggct
     4081 gtggacctac tgggcatttg aggaattgga gaatggagat ggcaagaggg caggctttta
     4141 agtttgggtt ggagacaact tcctgtggcc cccacaagct gagtctggcc ttctccagct
     4201 ggccccaaaa aaggcctttg ctacatcctg attatctctg aaagtaatca atcaagtggc
     4261 tccagtagct ctggattttc tgccagggct gggccattgt ggtgctgccc cagtatgaca
     4321 tgggaccaag gccagcgcag gttatccacc tctgcctgga agtctatact ctacccaggg
     4381 catccctctg gtcagaggca gtgagtactg ggaactggag gctgacctgt gcttagaagt
     4441 cctttaatct gggctggtac aggcctcagc cttgccctca atgcacgaaa ggtggcccag
     4501 gagagaggat caatgccata ggaggcagaa gtctggcctc tgtgcctcta tggagactat
     4561 cttccagttg ctgctcaaca gagttgttgg ctgagacctg cttgggagtc tctgctggcc
     4621 cttcatctgt tcaggaacac acacacacac acactcacac acgcacacac aatcacaatt
     4681 tgctacagca acaaaaaaga cattgggctg tggcattatt aattaaagat gatatccagt
     4741 ctccaaatgt ctctgtgcat ctgtgcgtgg gctcctcttg catagtctag gcaatctgag
     4801 caatgcacca gggtggcaga tggtctctca aggcggggga aatgccccaa gtagc
//
LOCUS       NM_001031703            1352 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens elongator acetyltransferase complex subunit 6 (ELP6),
            transcript variant 1, mRNA.
ACCESSION   NM_001031703
VERSION     NM_001031703.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1352)
  AUTHORS   Kojic M and Wainwright B.
  TITLE     The Many Faces of Elongator in Neurodevelopment and Disease
  JOURNAL   Front Mol Neurosci 9, 115 (2016)
   PUBMED   27847465
  REMARK    Review article Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1352)
  AUTHORS   Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann
            TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby
            A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y,
            Tarasov KV, Dorr M, Muller-Nurasyid M, Lahtinen AM, Nolte IM, Smith
            AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D,
            Lyytikainen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro
            P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S, Kumari M,
            Morris RW, Naluai AT, Padmanabhan S, Kluttig A, Strohmer B,
            Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K,
            Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso
            A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane PW,
            Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J, Smith JG,
            Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella M, Zelante
            L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polasek O, Wright AF,
            Griffin M, Daly MJ, Arnar DO, Holm H, Thorsteinsdottir U, Denny JC,
            Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O'Donnell CJ,
            Yin X, Bobbo M, D'Adamo AP, Iorio A, Sinagra G, Carracedo A,
            Cummings SR, Nalls MA, Jula A, Kontula KK, Marjamaa A, Oikarinen L,
            Perola M, Porthan K, Erbel R, Hoffmann P, Jockel KH, Kalsch H,
            Nothen MM, den Hoed M, Loos RJ, Thelle DS, Gieger C, Meitinger T,
            Perz S, Peters A, Prucha H, Sinner MF, Waldenberger M, de Boer RA,
            Franke L, van der Vleuten PA, Beckmann BM, Martens E, Bardai A,
            Hofman N, Wilde AA, Behr ER, Dalageorgou C, Giudicessi JR,
            Medeiros-Domingo A, Barc J, Kyndt F, Probst V, Ghidoni A, Insolia R,
            Hamilton RM, Scherer SW, Brandimarto J, Margulies K, Moravec CE, del
            Greco M F, Fuchsberger C, O'Connell JR, Lee WK, Watt GC, Campbell H,
            Wild SH, El Mokhtari NE, Frey N, Asselbergs FW, Mateo Leach I, Navis
            G, van den Berg MP, van Veldhuisen DJ, Kellis M, Krijthe BP, Franco
            OH, Hofman A, Kors JA, Uitterlinden AG, Witteman JC, Kedenko L,
            Lamina C, Oostra BA, Abecasis GR, Lakatta EG, Mulas A, Orru M,
            Schlessinger D, Uda M, Markus MR, Volker U, Snieder H, Spector TD,
            Arnlov J, Lind L, Sundstrom J, Syvanen AC, Kivimaki M, Kahonen M,
            Mononen N, Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M,
            Nicolaides AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F,
            Whincup PH, Hingorani AD, Schott JJ, Bezzina CR, Ingelsson E,
            Ferrucci L, Gasparini P, Wilson JF, Rudan I, Franke A, Muhleisen TW,
            Pramstaller PP, Lehtimaki TJ, Paterson AD, Parsa A, Liu Y, van Duijn
            CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix SB, Sanna
            S, Ritchie MD, Stricker BH, Stefansson K, Boyer LA, Cappola TP,
            Olsen JV, Lage K, Schwartz PJ, Kaab S, Chakravarti A, Ackerman MJ,
            Pfeufer A, de Bakker PI and Newton-Cheh C.
  CONSRTM   CARe Consortium; COGENT Consortium; DCCT/EDIC; eMERGE Consortium;
            HRGEN Consortium
  TITLE     Genetic association study of QT interval highlights role for calcium
            signaling pathways in myocardial repolarization
  JOURNAL   Nat Genet 46 (8), 826-836 (2014)
   PUBMED   24952745
REFERENCE   3  (bases 1 to 1352)
  AUTHORS   Wagner LA, Wang S, Wayner EA, Christensen C, Perkins SJ, Ward GW,
            Weiss RB, Dunn DM, Redd MJ, Spangrude GJ and Gleich GJ.
  TITLE     Developing and mature human granulocytes express ELP 6 in the
            cytoplasm
  JOURNAL   Hum Antibodies 22 (1-2), 21-29 (2013)
   PUBMED   24284306
  REMARK    GeneRIF: ELP6 is expressed intracellularly in developing and mature
            granulocytes and monocytes but not in lymphocytes and erythrocytes.
REFERENCE   4  (bases 1 to 1352)
  AUTHORS   Close P, Gillard M, Ladang A, Jiang Z, Papuga J, Hawkes N, Nguyen L,
            Chapelle JP, Bouillenne F, Svejstrup J, Fillet M and Chariot A.
  TITLE     DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and
            migration of melanoma cells as subunits of Elongator
  JOURNAL   J Biol Chem 287 (39), 32535-32545 (2012)
   PUBMED   22854966
  REMARK    GeneRIF: data identify DERP6/ELP5 and C3ORF75/ELP6 as key players
            for migration, invasion and tumorigenicity of melanoma cells, as
            integral subunits of Elongator.
REFERENCE   5  (bases 1 to 1352)
  AUTHORS   Bolukbasi E, Vass S, Cobbe N, Nelson B, Simossis V, Dunbar DR and
            Heck MM.
  TITLE     Drosophila poly suggests a novel role for the Elongator complex in
            insulin receptor-target of rapamycin signalling
  JOURNAL   Open Biol 2 (1), 110031 (2012)
   PUBMED   22645656
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK225721.1, BC014204.2 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000296149.9/ ENSP00000296149.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC099778.2 and BC000623.2.
            On Nov 22, 2018 this sequence version replaced NM_001031703.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1352
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1352
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /note="elongator acetyltransferase complex subunit 6"
                     /db_xref="GeneID:54859"
                     /db_xref="HGNC:HGNC:25976"
                     /db_xref="MIM:615020"
     misc_feature    105..107
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /note="upstream in-frame stop codon"
     CDS             123..923
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transmembrane protein 103; angiotonin-transactivated
                     protein 1; UPF0405 protein C3orf75; elongator complex
                     protein 6 homolog"
                     /codon_start=1
                     /product="elongator complex protein 6 isoform 1"
                     /protein_id="NP_001026873.2"
                     /db_xref="CCDS:CCDS43082.1"
                     /db_xref="GeneID:54859"
                     /db_xref="HGNC:HGNC:25976"
                     /db_xref="MIM:615020"
                     /translation="MFVELNNLLNTTPDRAEQGKLTLLCDAKTDGSFLVHHFLSFYLKA
                     NCKVCFVALIQSFSHYSIVGQKLGVSLTMARERGQLVFLEGLKSAVDVVFQAQKEPHPL
                     QFLREANAGNLKPLFEFVREALKPVDSGEARWTYPVLLVDDLSVLLSLGMGAVAVLDFI
                     HYCRATVCWELKGNMVVLVHDSGDAEDEENDILLNGLSHQSHLILRAEGLATGFCRDVH
                     GQLRILWRRPSQPAVHRDQSFTYQYKIQDKSVSFFAKGMSPAVL"
     regulatory      1329..1334
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /note="hexamer: AATAAA"
     polyA_site      1352
                     /gene="ELP6"
                     /gene_synonym="C3orf75; TMEM103"
                     /note="major polyA site"
ORIGIN
        1 ggcattgcgc atgcgcgctt ccttgcgcga gccgggctgt cgggtgtgtt ttgctctcca
       61 gcctccgtcg tctctgcagc actccgggtt ctcctccaga gcgctagtcc caggagctcg
      121 gaatgttcgt ggaacttaat aacctgctta acaccacccc cgacagggcg gagcagggga
      181 aactgactct actctgtgat gccaagacag atgggagttt ccttgtacac cactttctct
      241 ccttctatct caaagctaat tgtaaagtct gctttgtggc actcatccag tccttcagcc
      301 actacagtat cgtgggacag aagctgggtg tcagcctgac catggcgcgg gagcgtgggc
      361 agcttgtgtt ccttgaggga ctcaagtctg cagtggacgt cgtcttccag gctcaaaagg
      421 agccacaccc cctgcagttt ctcagggagg ctaatgctgg gaacttgaaa ccattgtttg
      481 agtttgtacg ggaggccctg aagccagtag acagtggaga ggctcggtgg acgtacccgg
      541 tgctgttggt ggacgacctc agtgtgctcc tgagcctggg catgggggcg gtggctgtgc
      601 tagacttcat tcactactgc agagccaccg tgtgctggga actaaaggga aacatggtgg
      661 tccttgtgca cgacagtgga gatgcggagg atgaggagaa tgacatcctg ctgaatggcc
      721 tcagtcatca gagccatctg atactgcggg ctgagggcct ggccactggc ttctgcaggg
      781 atgtgcacgg gcagctgagg atcctgtgga ggagaccatc gcagcccgca gtccaccggg
      841 atcagagctt cacttaccag tataagatac aggacaaaag cgtgtccttt tttgccaaag
      901 gaatgtctcc tgctgttctg tgacctgatt tcggagcagc tgaagctaca taggactgtt
      961 tttggacgtg gaagatagag caacatagca agaatgggtc tttctcctct gtagtaatat
     1021 ttcaggctgg accggcgact ccactgtgac cagagggttg agtgctgcag tgatggcatg
     1081 ccttggctgc cctgggccct gttcagaaaa cacaagggac cacaatcctg cctttgctga
     1141 gagagaggct ggatgctaga cccaagtgaa aggggtcctt tggagccttt gtttaaatat
     1201 gccttagccc cagctgccca tttttggttg acaagccttt cagagccaga gtgggtatag
     1261 atgtgccagc caggagatgg caccggatgg caggtgtgca aggtgacaac taggataatc
     1321 atggctggaa taaagtaagt ttccacactg ga
//
LOCUS       NM_001031705            1441 bp    mRNA    linear   PRI 13-JUL-2023
DEFINITION  Homo sapiens cancer/testis antigen 55 (CT55), transcript variant 1,
            mRNA.
ACCESSION   NM_001031705
VERSION     NM_001031705.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1441)
  AUTHORS   Zhang G, Jiang C, Yang Y, Wang Y, Zhou H, Dai S, Liu M, Yang Y, Yang
            L, Shen Q, Zhang T, Zhang X, Yang Y and Shen Y.
  TITLE     Deficiency of cancer/testis antigen gene CT55 causes male
            infertility in humans and mice
  JOURNAL   Cell Death Differ 30 (2), 500-514 (2023)
   PUBMED   36481789
  REMARK    GeneRIF: Deficiency of cancer/testis antigen gene CT55 causes male
            infertility in humans and mice.
REFERENCE   2  (bases 1 to 1441)
  AUTHORS   Aurriere J, Goudenege D, Baechler SA, Huang SN, Gueguen N,
            Desquiret-Dumas V, Chabrun F, Perrot R, Chevrollier A, Charif M,
            Baris OR, Pommier Y, Lenaers G and Khiati S.
  TITLE     Cancer/Testis Antigen 55 is required for cancer cell proliferation
            and mitochondrial DNA maintenance
  JOURNAL   Mitochondrion 64, 19-26 (2022)
   PUBMED   35189384
REFERENCE   3  (bases 1 to 1441)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1441)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1441)
  AUTHORS   Matsushita M, Ozawa K, Suzuki T, Nakamura M, Nakano N, Kanchi S,
            Ichikawa D, Matsuki E, Sakurai M, Karigane D, Kasahara H, Tsukamoto
            N, Shimizu T, Mori T, Nakajima H, Okamoto S, Kawakami Y and Hattori
            Y.
  TITLE     CXorf48 is a potential therapeutic target for achieving
            treatment-free remission in CML patients
  JOURNAL   Blood Cancer J 7 (9), e601 (2017)
   PUBMED   28862699
  REMARK    GeneRIF: the relapse rate of CXorf48-specific CTL-negative patients
            was 63.6%, compared to 0% in CXorf48-specific CTL-positive patients.
            These results indicate that CXorf48 could be a promising therapeutic
            target of LSCs for immunotherapy to obtain durable treatment-free
            remission in CML patients. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1441)
  AUTHORS   Tomiyoshi G, Nakanishi A, Takenaka K, Yoshida K and Miki Y.
  TITLE     Novel BRCA2-interacting protein BJ-HCC-20A inhibits the induction of
            apoptosis in response to DNA damage
  JOURNAL   Cancer Sci 99 (4), 747-754 (2008)
   PUBMED   18307534
  REMARK    GeneRIF: A novel BRCA2-interacting protein, BJ-HCC-20A, which is
            reported to be a potential cancer-testis antigen, was identified.
REFERENCE   7  (bases 1 to 1441)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer
            M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL,
            Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME,
            Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R,
            Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson
            A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler
            DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S,
            Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker
            GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O,
            Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman
            AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P,
            Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel
            L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z,
            Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S,
            Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS,
            Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O,
            Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H,
            Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T,
            Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis
            F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner
            G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R,
            Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S,
            Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume
            J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de
            Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis
            P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK,
            Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM,
            Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J,
            Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl
            P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S,
            Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN,
            Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S,
            Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey
            Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG,
            Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD,
            Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann
            RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K,
            Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M,
            Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry
            GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey
            DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L,
            Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S,
            Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A,
            Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM,
            Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R,
            Hubbard T, Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF520814.2, BC020662.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000276241.11/ ENSP00000276241.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF520814.2 and AY352211.1.
            On Dec 23, 2019 this sequence version replaced NM_001031705.2.
            Transcript Variant: This variant (1) represents the longer isoform
            (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1441
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     gene            1..1441
                     /gene="CT55"
                     /gene_synonym="BJHCC20A; CXorf48; SPGFX7"
                     /note="cancer/testis antigen 55"
                     /db_xref="GeneID:54967"
                     /db_xref="HGNC:HGNC:26047"
                     /db_xref="MIM:301105"
     misc_feature    165..167
                     /gene="CT55"
                     /gene_synonym="BJHCC20A; CXorf48; SPGFX7"
                     /note="upstream in-frame stop codon"
     CDS             228..1022
                     /gene="CT55"
                     /gene_synonym="BJHCC20A; CXorf48; SPGFX7"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; BRCA2-interacting protein; tumor antigen BJ-HCC-20"
                     /codon_start=1
                     /product="cancer/testis antigen 55 isoform 1 precursor"
                     /protein_id="NP_001026875.1"
                     /db_xref="CCDS:CCDS35400.1"
                     /db_xref="GeneID:54967"
                     /db_xref="HGNC:HGNC:26047"
                     /db_xref="MIM:301105"
                     /translation="MLRLLRLALAFYGRTADPAERQGPQQQGLPQGDTQLTTVQGVVTS
                     FCGDYGMIDESIYFSSDVVTGNVPLKVGQKVNVVVEEDKPHYGLRAIKVDVVPRHLYGA
                     GPSDSGTRVLIGCVTSINEDNIYISNSIYFSIAIVSEDFVPYKGDLLEVEYSTEPGISN
                     IKATSVKPIRCIHTEEVCITSVHGRNGVIDYTIFFTLDSVKLPDGYVPQVDDIVNVVMV
                     ESIQFCFIWRAISITPVHKSSSGFQDDGGLGRPKRERRSQSI"
     sig_peptide     228..275
                     /gene="CT55"
                     /gene_synonym="BJHCC20A; CXorf48; SPGFX7"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    951..1019
                     /gene="CT55"
                     /gene_synonym="BJHCC20A; CXorf48; SPGFX7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUE5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 agagggagaa gtcagcggag aagctgggag ctcctttgga ggctgcggtg tccctgactc
       61 tcctgagggg ggctcactaa cgggtgggtc ccatgccaca gtgtctgagg agaagcagga
      121 agtgagtccc tgaggagacg ccgtgacctg agggcttccc ttactgagga ggcctcgtgc
      181 ttcatctgcc acaagcggtg cccaggccgg tggtgacaac tgggacgatg ctcaggcttc
      241 tgagacttgc tttggccttc tacgggagga cggccgaccc tgcagagcga cagggcccac
      301 agcagcaggg cctcccacaa ggtgacaccc agttgacaac tgtgcaggga gttgtcacaa
      361 gtttctgtgg tgattatggc atgattgatg agtcgatcta cttcagtagt gatgttgtga
      421 ctggcaacgt gcctctaaaa gttggacaaa aagttaatgt ggttgtggaa gaagataaac
      481 cacattatgg attgagagca atcaaggtgg atgttgtgcc tcgccatctt tatggtgctg
      541 gaccctcaga ctcaggaacc agagttttaa ttggatgtgt tacttctata aatgaagata
      601 atatttatat tagtaacagc atttattttt ccatagccat tgtttctgaa gattttgtgc
      661 cttataaggg tgacttgtta gaagttgaat attccactga gccaggcatc tcaaacatca
      721 aggcaacttc tgtgaagccc atccgttgta ttcatacgga agaggtctgc attactagcg
      781 tacatggaag aaatggggtg atagattata ctattttttt caccttggat tctgtgaaac
      841 ttcctgatgg atacgtacct caagtagatg atatcgtcaa tgtggtcatg gtggagagca
      901 ttcagttctg ctttatttgg agagcgattt ctatcacccc agtgcataaa tccagcagcg
      961 gattccagga tgacggaggc ctgggacggc ccaaaaggga acgtcggagc caaagcattt
     1021 aactgaaaag gcatcaggga cagcatgtta aaggcatgat ttaaagttac aatttgactt
     1081 cagttttgag ccccgttatg ctgcctgtac aacctgtatt gttccatagc ctctttcatc
     1141 ttctgtcacc cacataactt gcggtgtttg ttgttttact tgttccttct tccccatgct
     1201 agaatgtaaa ctccacaatg gcaggatgtc ttttaatctg gttttttttt ttcttttttc
     1261 tttctttttt tttttctgtt gtcattaaag catcaccaag cacttagaag agtgcctggc
     1321 agactcaatg agcagataaa atgttattaa gttcaatgac tgaatgactg ggccagcaat
     1381 gatacttacc tgtggttcat tcatcactgg ttccttagga ataaaattgt tgagcaatgc
     1441 a
//
LOCUS       NM_001031709            2409 bp    mRNA    linear   PRI 07-JUL-2023
DEFINITION  Homo sapiens renalase, FAD dependent amine oxidase (RNLS),
            transcript variant 1, mRNA.
ACCESSION   NM_001031709
VERSION     NM_001031709.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2409)
  AUTHORS   Stojanovic D, Stojanovic M, Milenkovic J, Velickov A, Ignjatovic A
            and Milojkovic M.
  TITLE     The Multi-Faceted Nature of Renalase for Mitochondrial Dysfunction
            Improvement in Cardiac Disease
  JOURNAL   Cells 12 (12), 1607 (2023)
   PUBMED   37371077
  REMARK    GeneRIF: The Multi-Faceted Nature of Renalase for Mitochondrial
            Dysfunction Improvement in Cardiac Disease. Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2409)
  AUTHORS   Ersak B, Ozaksit G, Tugrul D, Doganay M, Ustun Y and Kokanali MK.
  TITLE     Role of serum renalase levels in predicting the presence of
            metabolic syndrome in patients with polycystic ovary syndrome
  JOURNAL   Taiwan J Obstet Gynecol 62 (3), 417-422 (2023)
   PUBMED   37188446
  REMARK    GeneRIF: Role of serum renalase levels in predicting the presence of
            metabolic syndrome in patients with polycystic ovary syndrome.
REFERENCE   3  (bases 1 to 2409)
  AUTHORS   Wang M, Weiss FU, Guo X, Kolodecik T, Bewersdorf JP, Laine L, Lerch
            MM, Desir G and Gorelick FS.
  TITLE     Plasma renalase levels are associated with the development of acute
            pancreatitis
  JOURNAL   Pancreatology 23 (2), 158-162 (2023)
   PUBMED   36697349
  REMARK    GeneRIF: Plasma renalase levels are associated with the development
            of acute pancreatitis.
REFERENCE   4  (bases 1 to 2409)
  AUTHORS   Wang M, Silva T, Toothaker JM, McCourt BT, Shugrue C, Desir G,
            Gorelick F and Konnikova L.
  TITLE     Renalase and its receptor, PMCA4b, are expressed in the placenta
            throughout the human gestation
  JOURNAL   Sci Rep 12 (1), 4953 (2022)
   PUBMED   35322081
  REMARK    GeneRIF: Renalase and its receptor, PMCA4b, are expressed in the
            placenta throughout the human gestation. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 2409)
  AUTHORS   de Freitas Moura MS, Linhares JJ, Noronha EC, de Pina Fernandes WC,
            Simiano Tavares KC, Marcelo Antunes ASL, Benevides SC and Barbalho
            Silva AW.
  TITLE     Evaluation of the association of the Renalase rs10887800
            polymorphism with the risk of preeclampsia in Brazilian women
  JOURNAL   Pregnancy Hypertens 27, 176-180 (2022)
   PUBMED   35104783
  REMARK    GeneRIF: Evaluation of the association of the Renalase rs10887800
            polymorphism with the risk of preeclampsia in Brazilian women.
REFERENCE   6  (bases 1 to 2409)
  AUTHORS   Rampersaud E, Damcott CM, Fu M, Shen H, McArdle P, Shi X, Shelton J,
            Yin J, Chang YP, Ott SH, Zhang L, Zhao Y, Mitchell BD, O'Connell J
            and Shuldiner AR.
  TITLE     Identification of novel candidate genes for type 2 diabetes from a
            genome-wide association scan in the Old Order Amish: evidence for
            replication from diabetes-related quantitative traits and from
            independent populations
  JOURNAL   Diabetes 56 (12), 3053-3062 (2007)
   PUBMED   17846126
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2409)
  AUTHORS   Zhao Q, Fan Z, He J, Chen S, Li H, Zhang P, Wang L, Hu D, Huang J,
            Qiang B and Gu D.
  TITLE     Renalase gene is a novel susceptibility gene for essential
            hypertension: a two-stage association study in northern Han Chinese
            population
  JOURNAL   J Mol Med (Berl) 85 (8), 877-885 (2007)
   PUBMED   17216203
  REMARK    GeneRIF: Renalase gene is a novel susceptibility gene for essential
            hypertension: a two-stage association study in northern Han Chinese
            population. GeneRIF: Observational study of gene-disease
            association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 2409)
  AUTHORS   Xu J and Desir GV.
  TITLE     Renalase, a new renal hormone: its role in health and disease
  JOURNAL   Curr Opin Nephrol Hypertens 16 (4), 373-378 (2007)
   PUBMED   17565281
  REMARK    GeneRIF: renalase pathway is a previously unrecognized mechanism for
            regulating circulating catecholamines & cardiac function, and blood
            pressure. Abnormalities in the renalase pathway are evident in
            animal models of chronic kidney disease and hypertension[review]
            Review article
REFERENCE   9  (bases 1 to 2409)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS,
            Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer
            N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White
            TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC,
            Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10  (bases 1 to 2409)
  AUTHORS   Xu J, Li G, Wang P, Velazquez H, Yao X, Li Y, Wu Y, Peixoto A,
            Crowley S and Desir GV.
  TITLE     Renalase is a novel, soluble monoamine oxidase that regulates
            cardiac function and blood pressure
  JOURNAL   J Clin Invest 115 (5), 1275-1280 (2005)
   PUBMED   15841207
  REMARK    GeneRIF: secreted by the kidney, circulates in blood, and modulates
            cardiac function and systemic blood pressure GeneRIF: Renalase
            regulates cardiac function and blood pressure.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.101895.1,
            SRR1163655.64493.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000331772.9/ ENSP00000332530.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP332262.1, BC005364.1, BM978857.1, AL353149.10 and AA854849.1.
            On Nov 23, 2018 this sequence version replaced NM_001031709.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2409
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.31"
     gene            1..2409
                     /gene="RNLS"
                     /gene_synonym="C10orf59; RENALASE"
                     /note="renalase, FAD dependent amine oxidase"
                     /db_xref="GeneID:55328"
                     /db_xref="HGNC:HGNC:25641"
                     /db_xref="MIM:609360"
     misc_feature    42..44
                     /gene="RNLS"
                     /gene_synonym="C10orf59; RENALASE"
                     /note="upstream in-frame stop codon"
     CDS             129..1157
                     /gene="RNLS"
                     /gene_synonym="C10orf59; RENALASE"
                     /EC_number="1.6.3.5"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; MAO-C; monoamine oxidase-C; alpha-NAD(P)H
                     oxidase/anomerase"
                     /codon_start=1
                     /product="renalase isoform 1 precursor"
                     /protein_id="NP_001026879.2"
                     /db_xref="CCDS:CCDS31239.1"
                     /db_xref="GeneID:55328"
                     /db_xref="HGNC:HGNC:25641"
                     /db_xref="MIM:609360"
                     /translation="MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGGRMTT
                     ACSPHNPQCTADLGAQYITCTPHYAKKHQRFYDELLAYGVLRPLSSPIEGMVMKEGDCN
                     FVAPQGISSIIKHYLKESGAEVYFRHRVTQINLRDDKWEVSKQTGSPEQFDLIVLTMPV
                     PEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIR
                     FVSIDNKKRNIESSEIGPSLVIHTTVPFGVTYLEHSIEDVQELVFQQLENILPGLPQPI
                     ATKCQKWRHSQVTNAAANCPGQMTLHHKPFLACGGDGFTQSNFDGCITSALCVLEALKN
                     YI"
     sig_peptide     129..179
                     /gene="RNLS"
                     /gene_synonym="C10orf59; RENALASE"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5VYX0.1)"
     regulatory      1527..1532
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNLS"
                     /gene_synonym="C10orf59; RENALASE"
                     /note="hexamer: AATAAT"
     polyA_site      1550
                     /gene="RNLS"
                     /gene_synonym="C10orf59; RENALASE"
                     /note="major polyA site"
     regulatory      2381..2386
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNLS"
                     /gene_synonym="C10orf59; RENALASE"
                     /note="hexamer: AATAAA"
     polyA_site      2409
                     /gene="RNLS"
                     /gene_synonym="C10orf59; RENALASE"
ORIGIN
        1 agggcccagg tcggcccagg gagcacggaa ccaaagagcg ctagcgccgg ttcggccgcc
       61 tttccagaaa gcccgggccg aacggccccg ccgcagagac tcagcgcgga tcgctgctcc
      121 ctctcgccat ggcgcaggtg ctgatcgtgg gcgccgggat gacaggaagc ttgtgcgctg
      181 cgctgctgag gaggcagacg tccggtccct tgtaccttgc tgtgtgggac aaggctgagg
      241 actcaggggg aagaatgact acagcctgca gtcctcataa tcctcagtgc acagctgact
      301 tgggtgctca gtacatcacc tgcactcctc attatgccaa aaaacaccaa cgtttttatg
      361 atgaactgtt agcctatggc gttttgaggc ctctaagctc gcctattgaa ggaatggtga
      421 tgaaagaagg agactgtaac tttgtggcac ctcaaggaat ttcttcaatt attaagcatt
      481 acttgaaaga atcaggtgca gaagtctact tcagacatcg tgtgacacag atcaacctaa
      541 gagatgacaa atgggaagta tccaaacaaa caggctcccc tgagcagttt gatcttattg
      601 ttctcacaat gccagttcct gagattctgc agcttcaagg tgacatcacc accttaatta
      661 gtgaatgcca aaggcagcaa ctggaggctg tgagctactc ctctcgatat gctctgggcc
      721 tcttttatga agctggtacg aagattgatg tcccttgggc tgggcagtac atcaccagta
      781 atccctgcat acgcttcgtc tccattgata ataagaagcg caatatagag tcatcagaaa
      841 ttgggccttc cctcgtgatt cacaccactg tcccatttgg agttacatac ttggaacaca
      901 gcattgagga tgtgcaagag ttagtcttcc agcagctgga aaacattttg ccgggtttgc
      961 ctcagccaat tgctaccaaa tgccaaaaat ggagacattc acaggttaca aatgctgctg
     1021 ccaactgtcc tggccaaatg actctgcatc acaaaccttt ccttgcatgt ggaggggatg
     1081 gatttactca gtccaacttt gatggctgca tcacttctgc cctatgtgtt ctggaagctt
     1141 taaagaatta tatttagtgc ctatatcctt attctctaca tgtgtattgg gtttttattt
     1201 tcacaatttt ctgttattga ttattttgtt ttctattttg ctaagaaaaa ttactggaaa
     1261 attgttcttc acttattatc atttttcatg tggagtataa aatcaatttt gtaattttga
     1321 tagttacaac ccatgctaga atggaaattc ctcacacctt gcaccttccc tacttttctg
     1381 aattgctatg actactcctt gttggaggaa aagtggtact taaaaaataa caaacgactc
     1441 tctcaaaaaa attacattaa atcacaataa cagtttgtgt gccaaaaact tgattatcct
     1501 tatgaaaatt tcaattctga ataaagaata atcacattat caaagcccca tcttaagtct
     1561 tcggatgtgt ccttgaatca atatttttgc aaattataca aaacaagatt tttccaaaat
     1621 gtaggtaaca gagtgtaatt cttatttctc atttatcccc caagttatta agtgatcctg
     1681 aattgtaggt catatatgtc atcatcttag tgtggagggc aacttgactg ataaagagac
     1741 cttccttcag attttcagaa agtataagat tccacatgat tttcccagcc acacagtact
     1801 ttttaacttt caaacaaatt ccagtcctaa tatgaaagat aaaaattaaa tagaaacaga
     1861 gagaaagtat atcgatcctt accttttgct atattttata gctgttgctg ttactttatg
     1921 ggttctccag tatgtgctgt ggcatttaga ctgtgtcgag tttaatgaat ttaacacaac
     1981 aaaaaattta ctgaaccaga aaatagatgc acttaaaata gttcaatatt tgccaagttg
     2041 gtggttcagc atatcaccca catgcttcag tgacctgacc ccacgacttg ctagctggag
     2101 agaaatcaat ctccagcctt ccaaaccagc tacctgttgc taatttgaaa agcaaaatga
     2161 tgagttctat ttcagcattt tgaaaggaga aaaatcattg cagcctctca aactaacaaa
     2221 agttcaacaa aagacttctt actgtaatag tgtttaaagt ttcacactta catgtccact
     2281 gtcatacata cacatacaca ggcacaggca gaacttgctt ctatagctgc aaagtgggtt
     2341 ttatgaccct atagcatatt attatatgtt tcctcttagc aataaattgg tgaaaaactt
     2401 aaatgccaa
//
LOCUS       NM_001031710            5619 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens kelch like family member 7 (KLHL7), transcript variant
            1, mRNA.
ACCESSION   NM_001031710
VERSION     NM_001031710.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5619)
  AUTHORS   Yilmaz Gulec E, Turgut GT, Gezdirici A, Karaman V, Ozturk FN, Avci
            S, Kalayci T, Senturk L, Ayaz A, Kayserili H, Uyguner ZO and
            Altunoglu U.
  TITLE     Clinical and molecular genetic findings of Crisponi/cold-induced
            sweating syndrome (CS/CISS) spectrum in patients from Turkey
  JOURNAL   Clin Genet 102 (3), 201-217 (2022)
   PUBMED   35699517
  REMARK    GeneRIF: Clinical and molecular genetic findings of
            Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in
            patients from Turkey.
REFERENCE   2  (bases 1 to 5619)
  AUTHORS   Cheraghi S, Moghbelinejad S, Najmabadi H, Kahrizi K and Najafipour
            R.
  TITLE     A novel PTC mutation in the BTB domain of KLHL7 gene in two patients
            with Bohring-Opitz syndrome-like features
  JOURNAL   Eur J Med Genet 63 (4), 103849 (2020)
   PUBMED   31953236
  REMARK    GeneRIF: A novel PTC mutation in the BTB domain of KLHL7 gene in two
            patients with Bohring-Opitz syndrome-like features.
REFERENCE   3  (bases 1 to 5619)
  AUTHORS   Oh JK, Lima de Carvalho JR Jr, Sun YJ, Ragi S, Yang J, Levi SR, Ryu
            J, Bassuk AG, Mahajan VB and Tsang SH.
  TITLE     Novel mutations in the 3-box motif of the BACK domain of KLHL7
            associated with nonsyndromic autosomal dominant retinitis pigmentosa
  JOURNAL   Orphanet J Rare Dis 14 (1), 295 (2019)
   PUBMED   31856884
  REMARK    GeneRIF: Study found novel mutations in the 3-box motif of the BACK
            domain of KLHL7 associated with nonsyndromic autosomal dominant
            retinitis pigmentosa Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5619)
  AUTHORS   Jeffries L, Olivieri JE, Ji W, Spencer-Manzon M, Bale A, Konstantino
            M and Lakhani SA.
  TITLE     Two siblings with a novel nonsense variant provide further
            delineation of the spectrum of recessive KLHL7 diseases
  JOURNAL   Eur J Med Genet 62 (9), 103551 (2019)
   PUBMED   30300710
  REMARK    GeneRIF: A novel nonsense mutation in KLHL7 was identified in two
            siblings with multiple dysmorphic features and developmental delay.
REFERENCE   5  (bases 1 to 5619)
  AUTHORS   Kigoshi Y, Tsuruta F and Chiba T.
  TITLE     Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by
            autosomal dominant retinitis pigmentosa causative mutation
  JOURNAL   J Biol Chem 286 (38), 33613-33621 (2011)
   PUBMED   21828050
  REMARK    GeneRIF: KLHL7 forms a dimer, assembles with Cul3 through its BTB
            and BACK domains, and exerts E3 activity.
REFERENCE   6  (bases 1 to 5619)
  AUTHORS   Bennett EJ, Rush J, Gygi SP and Harper JW.
  TITLE     Dynamics of cullin-RING ubiquitin ligase network revealed by
            systematic quantitative proteomics
  JOURNAL   Cell 143 (6), 951-965 (2010)
   PUBMED   21145461
REFERENCE   7  (bases 1 to 5619)
  AUTHORS   Hugosson T, Friedman JS, Ponjavic V, Abrahamson M, Swaroop A and
            Andreasson S.
  TITLE     Phenotype associated with mutation in the recently identified
            autosomal dominant retinitis pigmentosa KLHL7 gene
  JOURNAL   Arch Ophthalmol 128 (6), 772-778 (2010)
   PUBMED   20547956
  REMARK    GeneRIF: Observed in 2 Scandinavian families to date, KLHL7 mutation
            has recently been associated with autosomal dominant retinitis
            pigmentosa.
REFERENCE   8  (bases 1 to 5619)
  AUTHORS   Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T,
            Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V,
            Granse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D,
            Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Goring HH,
            Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger
            SP, Heckenlively JR, Andreasson S and Swaroop A.
  TITLE     Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant
            retinitis pigmentosa
  JOURNAL   Am J Hum Genet 84 (6), 792-800 (2009)
   PUBMED   19520207
  REMARK    GeneRIF: Mutations in a BTB-Kelch protein, KLHL7, cause
            autosomal-dominant retinitis pigmentosa.
REFERENCE   9  (bases 1 to 5619)
  AUTHORS   Bredholt G, Storstein A, Haugen M, Krossnes BK, Husebye E, Knappskog
            P and Vedeler CA.
  TITLE     Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer
            sera
  JOURNAL   Scand J Immunol 64 (3), 325-335 (2006)
   PUBMED   16918702
  REMARK    GeneRIF: The present results indicate that KLHL7 antibodies are
            associated with various cancers, and in some patients also with
            neurological disease. Whether KLHL7 antibodies can be used as
            paraneoplastic markers for PNS remains to be determined.
REFERENCE   10  (bases 1 to 5619)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.48226.1,
            SRR1660807.189431.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000339077.10/ ENSP00000343273.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC370850.1, AK290479.1,
            AK056390.1, BC039585.1 and AC005082.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001031710.2.
            Summary: This gene encodes a BTB-Kelch-related protein. The encoded
            protein may be involved in protein degradation. Mutations in this
            gene have been associated with retinitis pigmentosa 42. [provided
            by RefSeq, Feb 2010].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5619
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.3"
     gene            1..5619
                     /gene="KLHL7"
                     /gene_synonym="CISS3; KLHL6; PERCHING; SBBI26"
                     /note="kelch like family member 7"
                     /db_xref="GeneID:55975"
                     /db_xref="HGNC:HGNC:15646"
                     /db_xref="MIM:611119"
     misc_feature    234..236
                     /gene="KLHL7"
                     /gene_synonym="CISS3; KLHL6; PERCHING; SBBI26"
                     /note="upstream in-frame stop codon"
     CDS             243..2003
                     /gene="KLHL7"
                     /gene_synonym="CISS3; KLHL6; PERCHING; SBBI26"
                     /note="isoform 1 is encoded by transcript variant 1;
                     kelch-like 6; kelch-like protein 7; kelch/BTB; kelch-like
                     7"
                     /codon_start=1
                     /product="kelch-like protein 7 isoform 1"
                     /protein_id="NP_001026880.2"
                     /db_xref="CCDS:CCDS34609.1"
                     /db_xref="GeneID:55975"
                     /db_xref="HGNC:HGNC:15646"
                     /db_xref="MIM:611119"
                     /translation="MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCD
                     VILMVQERKIPAHRVVLAAASHFFNLMFTTNMLESKSFEVELKDAEPDIIEQLVEFAYT
                     ARISVNSNNVQSLLDAANQYQIEPVKKMCVDFLKEQVDASNCLGISVLAECLDCPELKA
                     TADDFIHQHFTEVYKTDEFLQLDVKRVTHLLNQDTLTVRAEDQVYDAAVRWLKYDEPNR
                     QPFMVDILAKVRFPLISKNFLSKTVQAEPLIQDNPECLKMVISGMRYHLLSPEDREELV
                     DGTRPRRKKHDYRIALFGGSQPQSCRYFNPKDYSWTDIRCPFEKRRDAACVFWDNVVYI
                     LGGSQLFPIKRMDCYNVVKDSWYSKLGPPTPRDSLAACAAEGKIYTSGGSEVGNSALYL
                     FECYDTRTESWHTKPSMLTQRCSHGMVEANGLIYVCGGSLGNNVSGRVLNSCEVYDPAT
                     ETWTELCPMIEARKNHGLVFVKDKIFAVGGQNGLGGLDNVEYYDIKLNEWKMVSPMPWK
                     GVTVKCAAVGSIVYVLAGFQGVGRLGHILEYNTETDKWVANSKVRAFPVTSCLICVVDT
                     CGANEETLET"
     misc_feature    1122..1250
                     /gene="KLHL7"
                     /gene_synonym="CISS3; KLHL6; PERCHING; SBBI26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXQ5.2);
                     Region: Kelch 1"
     misc_feature    1251..1388
                     /gene="KLHL7"
                     /gene_synonym="CISS3; KLHL6; PERCHING; SBBI26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXQ5.2);
                     Region: Kelch 2"
     misc_feature    1389..1532
                     /gene="KLHL7"
                     /gene_synonym="CISS3; KLHL6; PERCHING; SBBI26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXQ5.2);
                     Region: Kelch 3"
     misc_feature    1533..1685
                     /gene="KLHL7"
                     /gene_synonym="CISS3; KLHL6; PERCHING; SBBI26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXQ5.2);
                     Region: Kelch 4"
     misc_feature    1689..1826
                     /gene="KLHL7"
                     /gene_synonym="CISS3; KLHL6; PERCHING; SBBI26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXQ5.2);
                     Region: Kelch 5"
     misc_feature    1830..1967
                     /gene="KLHL7"
                     /gene_synonym="CISS3; KLHL6; PERCHING; SBBI26"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXQ5.2);
                     Region: Kelch 6"
     regulatory      2988..2993
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL7"
                     /gene_synonym="CISS3; KLHL6; PERCHING; SBBI26"
                     /note="hexamer: AATAAA"
     polyA_site      3009
                     /gene="KLHL7"
                     /gene_synonym="CISS3; KLHL6; PERCHING; SBBI26"
                     /note="major polyA site"
     regulatory      3104..3109
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL7"
                     /gene_synonym="CISS3; KLHL6; PERCHING; SBBI26"
                     /note="hexamer: ATTAAA"
     polyA_site      3126
                     /gene="KLHL7"
                     /gene_synonym="CISS3; KLHL6; PERCHING; SBBI26"
                     /note="major polyA site"
     regulatory      5599..5604
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL7"
                     /gene_synonym="CISS3; KLHL6; PERCHING; SBBI26"
                     /note="hexamer: AATAAA"
     polyA_site      5619
                     /gene="KLHL7"
                     /gene_synonym="CISS3; KLHL6; PERCHING; SBBI26"
ORIGIN
        1 gggttctgcc cggggacgca gcccagttgg tagcgtcgct ccctgagcgt ttctaagggg
       61 gccgcccggc cttgtctttc ggcagtggcc gagccaccgc cgcctgccgc gcgttccaga
      121 gctgggcgct gcagctgcac tgccgatcgc cgtgtttggt cgatagaatc cccagtgtgc
      181 ccagagagtg cgacccctcg cccggcccgg cgagccccgg gcgtgaaccg agctgaggga
      241 ggatggcagc ctctggggtg gagaagagca gcaagaagaa gaccgagaag aaacttgctg
      301 ctcgggaaga agctaaattg ttggcgggtt tcatgggcgt catgaataac atgcggaaac
      361 agaaaacgtt gtgtgacgtg atcctcatgg tccaggaaag aaagatacct gctcatcgtg
      421 ttgttcttgc tgcagccagt cattttttta acttaatgtt cacaactaac atgcttgaat
      481 caaagtcctt tgaagtagaa ctcaaagatg ctgaacctga tattattgaa caactggtgg
      541 aatttgctta tactgctaga atttccgtga atagcaacaa tgttcagtct ttgctggatg
      601 cagcaaacca atatcagatt gaacctgtga agaaaatgtg tgttgatttt ttgaaagaac
      661 aagttgatgc ttcaaattgt cttggtataa gtgtgctagc ggagtgtcta gattgtcctg
      721 aattgaaagc aactgcagat gactttattc atcagcactt tactgaagtt tacaaaactg
      781 atgaatttct tcaacttgat gtcaagcgag taacacatct tctcaaccag gacactctga
      841 ctgtgagagc agaggatcag gtttatgatg ctgcagtcag gtggttgaaa tacgatgaac
      901 ctaatcgcca gccatttatg gttgatatcc ttgctaaagt caggtttcct cttatatcaa
      961 agaatttctt aagtaaaacg gtacaagctg aaccacttat tcaagacaat cctgaatgcc
     1021 ttaagatggt gataagtgga atgaggtacc atctactgtc tccagaggac cgagaagaac
     1081 ttgtagatgg cacaagacct agaagaaaga aacatgacta ccgcatagcc ctatttggag
     1141 gctctcaacc acagtcttgt agatatttta acccaaagga ttatagctgg acagacatcc
     1201 gctgcccctt tgaaaaacga agagatgcag catgcgtgtt ttgggacaat gtagtataca
     1261 ttttgggagg ctctcagctt ttcccaataa agcgaatgga ctgctataat gtagtgaagg
     1321 atagctggta ttcgaaactg ggtcctccga cacctcgaga cagccttgct gcatgtgctg
     1381 cagaaggcaa aatttataca tctggaggtt cagaagtagg aaactcagct ctgtatttat
     1441 ttgagtgcta tgatacgaga actgaaagct ggcacacaaa gcccagcatg ctgacccagc
     1501 gctgcagcca tgggatggtg gaagccaatg gcctaatcta tgtttgtggt ggaagtttag
     1561 gaaacaatgt ttctgggaga gtgcttaatt cctgtgaagt ttatgatcct gccacagaaa
     1621 catggactga gctgtgtcca atgattgaag ccaggaagaa tcatgggctg gtatttgtaa
     1681 aagacaagat atttgctgtg ggtggtcaga atggtttagg tggtctggac aatgtggaat
     1741 attacgatat taagttgaac gaatggaaga tggtctcacc aatgccatgg aagggtgtaa
     1801 cagtgaaatg tgcagcagtt ggctctatag tttatgtctt ggctggtttt cagggtgttg
     1861 gtcgattagg acacattctc gaatataata ccgaaacaga caaatgggtt gccaactcca
     1921 aagttcgtgc ttttccagtc acaagttgtt taatttgtgt tgtcgatact tgtggagcaa
     1981 atgaagagac ccttgaaaca tgaaaaatga gtggacttca gactcatcag agactctaaa
     2041 atatagccac cagtgctttg ttccaggagt ttggtgacaa agttttggtt tggtgttttg
     2101 gtaaagaaag tttcaagtga aatgaggttc ctataaaata gatgtttctt ttatatggat
     2161 ttccttaatt caaagatcat attttagctg gccacaaaac caagaacata tctagcaaga
     2221 aaacttgaaa aagtataagc atttgttaaa aatgtgaatt tcttgaatga atttcacatt
     2281 tgtaactatg attttggcag aatagaagat tggctcatca gtgaagcgca gtatcttagc
     2341 tctagattct attttcatgc atcacagaag tgctatacgg ttaggtctgt ttgtgctcag
     2401 tcaagaacta agaaatagta tgaattgtaa gtcaagatgg gcaactcaga tggagcagct
     2461 tagtctcaca gtttgcttgt ctatttattt tatttagtgc caaatgtatt ccattttaaa
     2521 agtaagccag agtgagtcaa ggcatataca cactttctca caaaacttcc taaacagatt
     2581 tgggggttta atatgtccaa ctcctcatga aatatattca atccacttaa atatattcca
     2641 tctttttaac ataaaatgta aagcttagca cccatcatta atttatgtct ctgttttatc
     2701 cagtggttaa aaaaggattc tgcctcttta gtcctcactg ttaaataaaa cccaatcata
     2761 gtaagtgatt aactagcaaa aagtaaagct atttatagca aatttctaga tcattagaaa
     2821 agcactggta gttgtacaat atcagtgttg actttgaact tctttaacga gatcatgaat
     2881 tcttttccct tagccaaaac atgaaatatt taacctagtt gtctctaaaa gttttgtaat
     2941 catgagttag atatatgtca tctcctattc attgctttta tgtgatcaat aaatctttta
     3001 caaacccaac tactcatttc cttcctagta atactttgcc tttttcactg tgtatggaat
     3061 gaaacatgta aagctgtcac aatcaatgtt tttatctgat aatattaaat attttttaac
     3121 ttaaaatagg ccactcagtt tgttcttcaa gtattttagg taatggttgt ttttagaatt
     3181 tgtgaaccag tgtctcttaa ttttcagttt tctttatata gaggttataa tagtcttaaa
     3241 ccctaaaaat gtttaaatca aaaaggaatt aggaaaaaca taatgatagg tatatttcta
     3301 tttgtgtagg gttttttaat gtacagcttt attgagatat aattcacata ccatacaatt
     3361 caccatttaa agtatactat tcaggccagg cacagtggct cacgcctgta atcccagcac
     3421 tttgggaggc caaggtgggt agatcatttg aggtcagcag ttcaagacca ccctggccaa
     3481 catgatgaga ccccgtctct actaaaaata caaaaattag ccaggcctgg tggtgtgcac
     3541 ttgtaatccc agctattcag gagactgagg caggaggatt gcttgaacct gacaggcaga
     3601 ggttgcagtg agctgagatc aagccactgc accccagcct gggcaacaga gcaagactaa
     3661 aaaaaaaaaa aaaaaaaaaa aaatgtatta ttcagtggtt tttaatatat ccacagagtt
     3721 acgcaaccat caccacaatt ttagaacatt ttcatcaccc caaaaagaaa ccttgtactg
     3781 attagcaatg gttccctatt tcccccaacg cccctgtatt tcctagggct accataacaa
     3841 actactgcaa acttggtggc tttaaagaac agaaatttat tctctcacaa ttcaggaagc
     3901 cagcactcct aaatcaagtt gtcagcaggg ttagttcctt ctggagggtc tgcagcagaa
     3961 accacacatg cctctcccct agcttctggt ggttgccagc aatcctcagc attctttggc
     4021 ttgtagctgc agcacttcag tctctgtctc tgtcttcgca tgggcttttt ccctgtgtgt
     4081 ctctgtatct tcacatggtg ttcttataag gacaacatag gagccagaca cagtggctca
     4141 ggccggtaat ttcaacactt tgggaggtgg aggcagtagg atcacttgag gctaggagtt
     4201 caagaccctg tctctacaaa aaaataaaaa gttagcaggt gtggtatata cctgcagttc
     4261 tagctactca gaaggctgag gtgggaggat cacttgagcc caggagttca aggatgtagt
     4321 gagctatgat tgtgccactg cactccagcc tgggtgacag actgagaccc tgtctcatta
     4381 aaaaaaaaaa aaaaaaagct gggcgctgtg tctcacgccc ttaatcccag cactttggga
     4441 ggccgaggcg ggtggattac ctgaggtcag gagtttgaga ccagcctgga caacatgcca
     4501 aaaccccgtc tctactaaaa atacaaaaat tagccaggta tggtggtgtg cacctgtagt
     4561 cccagctact caggaggctg aggtaggaga attgcttgaa cctgggaggc agaggttgca
     4621 gtgagctgag attgcgccac ttcattccag cctgggtgac agagcaagac accttctcaa
     4681 agcaaaatac aaacaaaaaa aggacaacat agggcccgca atccagtatg accttatttt
     4741 aattacacct gtaaagaccc catttccaaa cgaggacaca ttctgagctt ctggatagac
     4801 atgaatttgg ggagatgctg ttcaacacag aaaacctccc aaacaccata gccctaggca
     4861 accactaatc tactttctgt ctctagattt gattattctg aacattttta gtagggtttt
     4921 caattttgca ctctattgaa aaatgtggct agtttaattt tttgagagtg aaatatccat
     4981 ttattatatt acaatatagc tatataattt gacaatctcc tatgtagaat atacagtacc
     5041 tgtctaagat attttaagta caccagcatt tccttttagg ctatgtcaat tgactagaac
     5101 acactatagt aaatacatac acaggtttga tgtggattat aatgaagtgg tttttttcct
     5161 tagtaatctg tatcataatt cccaattagt gtctttttct gccttggaaa tttctacaga
     5221 attgtcaata tcaggatagt gcgtaaaagt acactcacca tactgacaag cacattttct
     5281 attttgttgc ccaaaactcc ctgtcctgta aagtgctctg cttgcttttt agtagacatt
     5341 tgataagtta atgttatatc ctttgcaatg atattatttt gatgacaaag taagtttatg
     5401 ctttcaaaaa tcacaattcg gtcagaaaag tttagcatct taaaaaaatt gttgctattt
     5461 gaaaaaaaca aaacaaaaca tatacttgtg actttgtggt ccagctggca aaaacttgac
     5521 atatcatccc atgaaaattt taagtcatga attattttga catgacaata ttgctaacaa
     5581 aatcaaaatc agccgtttaa taaacaatta ttccaccaa
//
LOCUS       NM_001031711            2903 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens endoplasmic reticulum-golgi intermediate compartment 1
            (ERGIC1), mRNA.
ACCESSION   NM_001031711
VERSION     NM_001031711.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2903)
  AUTHORS   Marconi C, Lemmens L, Masclaux F, Mattioli F, Fluss J, Extermann P,
            Mendez P, Leuchter RH, Stathaki E, Laurent S, Hammar E, Vannier A,
            Varvagiannis K, Guipponi M, Sloan-Bena F, Blouin JL, Abramowicz M
            and Fokstuen S.
  TITLE     Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis
  JOURNAL   Clin Genet 100 (3), 329-333 (2021)
   PUBMED   34037256
  REMARK    GeneRIF: Bi-allelic loss of ERGIC1 causes relatively mild
            arthrogryposis.
REFERENCE   2  (bases 1 to 2903)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2903)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2903)
  AUTHORS   Yoo W, Cho EB, Kim S and Yoon JB.
  TITLE     The E3 ubiquitin ligase MARCH2 regulates ERGIC3-dependent
            trafficking of secretory proteins
  JOURNAL   J Biol Chem 294 (28), 10900-10912 (2019)
   PUBMED   31142615
REFERENCE   5  (bases 1 to 2903)
  AUTHORS   Wang F, Guan X, Yang J, He W, Wei Y, Chen H and Li Y.
  TITLE     Differential Expression and Significance of Endoplasmic Reticulum
            Golgi Intermediate Compartment 1 in Precancerous Gastric Lesions and
            Gastric Cancer
  JOURNAL   Am J Med Sci 355 (3), 228-234 (2018)
   PUBMED   29549924
  REMARK    GeneRIF: ERGIC1 might play an inhibitory role in the initiation and
            progression of gastric cancer.
REFERENCE   6  (bases 1 to 2903)
  AUTHORS   Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida
            H, Satoh K, Aoyagi Y, Nozawa Y and Yamada Y.
  TITLE     Association of genetic variants with hemorrhagic stroke in Japanese
            individuals
  JOURNAL   Int J Mol Med 25 (4), 649-656 (2010)
   PUBMED   20198315
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2903)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   8  (bases 1 to 2903)
  AUTHORS   Oguri M, Kato K, Yokoi K, Yoshida T, Watanabe S, Metoki N, Yoshida
            H, Satoh K, Aoyagi Y, Nozawa Y and Yamada Y.
  TITLE     Assessment of a polymorphism of SDK1 with hypertension in Japanese
            Individuals
  JOURNAL   Am J Hypertens 23 (1), 70-77 (2010)
   PUBMED   19851296
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2903)
  AUTHORS   Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida
            H, Satoh K, Aoyagi Y, Nozawa Y and Yamada Y.
  TITLE     Association of gene polymorphisms with chronic kidney disease in
            Japanese individuals
  JOURNAL   Int J Mol Med 24 (4), 539-547 (2009)
   PUBMED   19724895
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10  (bases 1 to 2903)
  AUTHORS   Breuza L, Halbeisen R, Jeno P, Otte S, Barlowe C, Hong W and Hauri
            HP.
  TITLE     Proteomics of endoplasmic reticulum-Golgi intermediate compartment
            (ERGIC) membranes from brefeldin A-treated HepG2 cells identifies
            ERGIC-32, a new cycling protein that interacts with human Erv46
  JOURNAL   J Biol Chem 279 (45), 47242-47253 (2004)
   PUBMED   15308636
  REMARK    GeneRIF: ERGIC-32 functions as a modulator of the hErv41-hErv46
            complex by stabilizing hErv46
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC012766.2, SRR1803616.107162.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000393784.8/ ENSP00000377374.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB443891.1, AB033007.1,
            BC014490.1 and CD365875.1.
            On Nov 22, 2018 this sequence version replaced NM_001031711.2.
            Summary: This gene encodes a cycling membrane protein which is an
            endoplasmic reticulum-golgi intermediate compartment (ERGIC)
            protein which interacts with other members of this protein family
            to increase their turnover. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2903
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.1"
     gene            1..2903
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /note="endoplasmic reticulum-golgi intermediate compartment
                     1"
                     /db_xref="GeneID:57222"
                     /db_xref="HGNC:HGNC:29205"
                     /db_xref="MIM:617946"
     CDS             164..1036
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /note="endoplasmic reticulum-golgi intermediate compartment
                     32 kDa protein; endoplasmic reticulum-golgi intermediate
                     compartment (ERGIC) 1; ER-Golgi intermediate compartment 32
                     kDa protein"
                     /codon_start=1
                     /product="endoplasmic reticulum-Golgi intermediate
                     compartment protein 1"
                     /protein_id="NP_001026881.1"
                     /db_xref="CCDS:CCDS34292.1"
                     /db_xref="GeneID:57222"
                     /db_xref="HGNC:HGNC:29205"
                     /db_xref="MIM:617946"
                     /translation="MPFDFRRFDIYRKVPKDLTQPTYTGAIISICCCLFILFLFLSELT
                     GFITTEVVNELYVDDPDKDSGGKIDVSLNISLPNLHCELVGLDIQDEMGRHEVGHIDNS
                     MKIPLNNGAGCRFEGQFSINKVPGNFHVSTHSATAQPQNPDMTHVIHKLSFGDTLQVQN
                     IHGAFNALGGADRLTSNPLASHDYILKIVPTVYEDKSGKQRYSYQYTVANKEYVAYSHT
                     GRIIPAIWFRYDLSPITVKYTERRQPLYRFITTICAIIGGTFTVAGILDSCIFTASEAW
                     KKIQLGKMH"
     misc_feature    242..304
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969X5.1);
                     transmembrane region"
     misc_feature    383..385
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:15308636,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q969X5.1); glycosylation site"
     misc_feature    926..988
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969X5.1);
                     transmembrane region"
     regulatory      2881..2886
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /note="hexamer: ATTAAA"
     polyA_site      2903
                     /gene="ERGIC1"
                     /gene_synonym="AMC2; AMCN; ERGIC-32; ERGIC32; NET24"
                     /note="major polyA site"
ORIGIN
        1 acttcccggc agcgggaggc gagtggcgag tggcgagtgg cgagtgtcag gggggcggcc
       61 ggcgggggcg gggcggccgg aggaggcgtt ggcagcgggc tcggacccac gcggcgccgc
      121 ggcccgcctg gcctgcagcg ctcccacccc cggcggcggc acgatgccct ttgacttcag
      181 gaggtttgac atctacagga aggtgcccaa ggaccttacg cagccaacgt acaccggggc
      241 cattatctcc atctgctgct gcctcttcat cctcttcctc ttcctctcgg agctcaccgg
      301 atttataacg acagaagttg tgaacgagct ctatgtcgat gacccagaca aggacagcgg
      361 tggcaagatc gacgtcagtc tgaacatcag tttacccaat ctgcactgcg agttggttgg
      421 gcttgacatt caggatgaga tgggcaggca cgaagtgggc cacatcgaca actccatgaa
      481 gatcccgctg aacaatgggg caggctgccg cttcgagggg cagttcagca tcaacaaggt
      541 ccccggcaac ttccacgtgt ccacacacag tgccacagcc cagccacaga acccagacat
      601 gacgcatgtc atccacaagc tctcctttgg ggacacgcta caggtccaga acatccacgg
      661 agctttcaat gctctcgggg gagcagacag actcacctcc aaccccctgg cctcccacga
      721 ctacatcctg aagattgtgc ccacggttta tgaggacaag agtggcaagc agcggtactc
      781 ctaccagtac acggtggcca acaaggaata cgtcgcctac agccacacgg gccgcatcat
      841 ccctgcaatc tggttccgct acgacctcag ccccatcacg gtcaagtaca cagagagacg
      901 gcagccgctg tacagattca tcaccacgat ctgtgccatc attggcggga ccttcaccgt
      961 cgccggcatc ctggactcat gcatcttcac agcctctgag gcctggaaga agatccagct
     1021 gggcaagatg cattgacgcc acacccagcc taatggccga ggaccctggg catcgccagc
     1081 cttgcctcca gtgccctgtc tcctttggcc ctcaatctgg tcccaaatct ggctgtgtcc
     1141 caaagggtgt gtgggaagtg gggggaaagt agaggatggc tcgatgtttt gcagctacct
     1201 cttttccccg tgtttctttt tagacaaatt acactgcctg aagttgcagt tcccctttcc
     1261 ctggggagcc ccaagaacag agtcaggcaa ggggtgggga gtccagggat cttggggacc
     1321 cctcctagga gagctgcagt ctcttccctc aggggaacat cccagaatgc atatcgatca
     1381 gctctcagcc aggcttcgac aatctcgcag cccccactag gtggacacat taatgatttg
     1441 gtttctcccc tgggcagcca acctgcccca gaggcaccag acctgggctt tcagctttgg
     1501 gaccaggctg cccaaaggta ctcctttata cacccggcac cttccacgaa agatggtact
     1561 tcccaagcaa gcccctatga tttgtcacta tagatggaac cctgacttct gccccatccc
     1621 ttcctgccca acctagaacc caggcctcaa gtctttaccc cacccctttc ttgttcttcc
     1681 aagaagcaga tgcccagttg ctcagcagca gcggtagaga cttgaatctg cccaccagtc
     1741 acaaggcggg tcacagattc ctcttcctct cttctcctcg ttcctctgaa ccctccacca
     1801 atgtgcctca gcctgtgtgc tgtgtggcaa cagcattctg gttcccactg ccaagatctc
     1861 ccaccactct gctgggatct gcagtggcag ggagtggggg ttgtgtaaag gggaagtcat
     1921 cttttgagat ccagatagac atggtttgtg cacttacgtc cagatgggaa gcatccttcc
     1981 tgcaacccta aaataatcat gcagcctctc agacggacgc catcggtccc aaggccttag
     2041 gtggaggaag caaagcaggc caggcctgtc ctgtccgtgg acctctacct tctggactcc
     2101 ctacgggtgc agagcacttg ggtttctcta cagccatcgt ggcccacttg acactgtgct
     2161 cctccatcag ctggtcacat gccaacacgt tcccagcccc tgaggcagct ccagggtgcc
     2221 ccacctgctc ctgaggtggg tccctaccct gctgctcctc ttcatccttt cccttttgtc
     2281 ctgaaaggga ggagcaatgg tccaggcatt aattccaccc agggaatttt agctatgccc
     2341 tcatgtccca gggagagagc cacacgcctg ttttccattt atagcaagat tgtttgcata
     2401 cttttgtaat gaaggggagt gtccagtgga aggattttta aaattatctt atggatagct
     2461 caagtctctg ccatttgtaa tttttggctc taagctccga ttggagacgc ttctccttgt
     2521 gcatgtgagt tgactgatgt tgtgagtgta aatgcatttg gttatttctg gtatcggtgg
     2581 ccacttggat ggattttttt acattctgtt ccccagttac aggaaggagt ccctttggtg
     2641 tgtgaatatg tgtgcctgta gagggtgggg cagggtgggg tggggatgga aatgtgtggc
     2701 atgcacatga gttgaaattc ttttatgcat ttttttgaag aaaaaaaaaa aaacaactct
     2761 gaggacatag gggatgtcag tttcctatgg aagagacacc tctgacccgt tattcttata
     2821 atcaaaatct gaagggaaaa aaatgtttta gttctttccc cactcgttgg gttcaactag
     2881 attaaaaggc tgattttcag aaa
//
LOCUS       NM_001031712            1843 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens tRNA methyltransferase 11 homolog (TRMT11), transcript
            variant 1, mRNA.
ACCESSION   NM_001031712
VERSION     NM_001031712.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1843)
  AUTHORS   Brumele B, Mutso M, Telanne L, Ounap K, Spunde K, Abroi A and Kurg
            R.
  TITLE     Human TRMT112-Methyltransferase Network Consists of Seven Partners
            Interacting with a Common Co-Factor
  JOURNAL   Int J Mol Sci 22 (24), 13593 (2021)
   PUBMED   34948388
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1843)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1843)
  AUTHORS   Kohli M, Riska SM, Mahoney DW, Chai HS, Hillman DW, Rider DN,
            Costello BA, Qin R, Lamba J, Sahasrabudhe DM and Cerhan JR.
  TITLE     Germline predictors of androgen deprivation therapy response in
            advanced prostate cancer
  JOURNAL   Mayo Clin Proc 87 (3), 240-246 (2012)
   PUBMED   22386179
  REMARK    GeneRIF: SNPs associated with androgen deprivation failure in
            advanced prostate cancer
REFERENCE   4  (bases 1 to 1843)
  AUTHORS   Elks CE, Perry JR, Sulem P, Chasman DI, Franceschini N, He C,
            Lunetta KL, Visser JA, Byrne EM, Cousminer DL, Gudbjartsson DF, Esko
            T, Feenstra B, Hottenga JJ, Koller DL, Kutalik Z, Lin P, Mangino M,
            Marongiu M, McArdle PF, Smith AV, Stolk L, van Wingerden SH, Zhao
            JH, Albrecht E, Corre T, Ingelsson E, Hayward C, Magnusson PK, Smith
            EN, Ulivi S, Warrington NM, Zgaga L, Alavere H, Amin N, Aspelund T,
            Bandinelli S, Barroso I, Berenson GS, Bergmann S, Blackburn H,
            Boerwinkle E, Buring JE, Busonero F, Campbell H, Chanock SJ, Chen W,
            Cornelis MC, Couper D, Coviello AD, d'Adamo P, de Faire U, de Geus
            EJ, Deloukas P, Doring A, Smith GD, Easton DF, Eiriksdottir G,
            Emilsson V, Eriksson J, Ferrucci L, Folsom AR, Foroud T, Garcia M,
            Gasparini P, Geller F, Gieger C, Gudnason V, Hall P, Hankinson SE,
            Ferreli L, Heath AC, Hernandez DG, Hofman A, Hu FB, Illig T,
            Jarvelin MR, Johnson AD, Karasik D, Khaw KT, Kiel DP, Kilpelainen
            TO, Kolcic I, Kraft P, Launer LJ, Laven JS, Li S, Liu J, Levy D,
            Martin NG, McArdle WL, Melbye M, Mooser V, Murray JC, Murray SS,
            Nalls MA, Navarro P, Nelis M, Ness AR, Northstone K, Oostra BA,
            Peacock M, Palmer LJ, Palotie A, Pare G, Parker AN, Pedersen NL,
            Peltonen L, Pennell CE, Pharoah P, Polasek O, Plump AS, Pouta A,
            Porcu E, Rafnar T, Rice JP, Ring SM, Rivadeneira F, Rudan I, Sala C,
            Salomaa V, Sanna S, Schlessinger D, Schork NJ, Scuteri A, Segre AV,
            Shuldiner AR, Soranzo N, Sovio U, Srinivasan SR, Strachan DP,
            Tammesoo ML, Tikkanen E, Toniolo D, Tsui K, Tryggvadottir L, Tyrer
            J, Uda M, van Dam RM, van Meurs JB, Vollenweider P, Waeber G,
            Wareham NJ, Waterworth DM, Weedon MN, Wichmann HE, Willemsen G,
            Wilson JF, Wright AF, Young L, Zhai G, Zhuang WV, Bierut LJ, Boomsma
            DI, Boyd HA, Crisponi L, Demerath EW, van Duijn CM, Econs MJ, Harris
            TB, Hunter DJ, Loos RJ, Metspalu A, Montgomery GW, Ridker PM,
            Spector TD, Streeten EA, Stefansson K, Thorsteinsdottir U,
            Uitterlinden AG, Widen E, Murabito JM, Ong KK and Murray A.
  CONSRTM   GIANT Consortium
  TITLE     Thirty new loci for age at menarche identified by a meta-analysis of
            genome-wide association studies
  JOURNAL   Nat Genet 42 (12), 1077-1085 (2010)
   PUBMED   21102462
REFERENCE   5  (bases 1 to 1843)
  AUTHORS   Purushothaman SK, Bujnicki JM, Grosjean H and Lapeyre B.
  TITLE     Trm11p and Trm112p are both required for the formation of
            2-methylguanosine at position 10 in yeast tRNA
  JOURNAL   Mol Cell Biol 25 (11), 4359-4370 (2005)
   PUBMED   15899842
REFERENCE   6  (bases 1 to 1843)
  AUTHORS   Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM,
            Polakiewicz RD and Comb MJ.
  TITLE     Immunoaffinity profiling of tyrosine phosphorylation in cancer cells
  JOURNAL   Nat Biotechnol 23 (1), 94-101 (2005)
   PUBMED   15592455
REFERENCE   7  (bases 1 to 1843)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF532977.1, SRR3476690.36675.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000334379.11/ ENSP00000333934.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC056878.1 and AF532977.1.
            On Nov 23, 2018 this sequence version replaced NM_001031712.2.
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1843
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.32"
     gene            1..1843
                     /gene="TRMT11"
                     /gene_synonym="C6orf75; MDS024; TRM11; TRMT11-1"
                     /note="tRNA methyltransferase 11 homolog"
                     /db_xref="GeneID:60487"
                     /db_xref="HGNC:HGNC:21080"
     CDS             12..1403
                     /gene="TRMT11"
                     /gene_synonym="C6orf75; MDS024; TRM11; TRMT11-1"
                     /EC_number="2.1.1.-"
                     /note="isoform a is encoded by transcript variant 1; tRNA
                     guanosine-2'-O-methyltransferase TRM11 homolog; tRNA
                     (guanine(10)-N2)-methyltransferase homolog"
                     /codon_start=1
                     /product="tRNA (guanine(10)-N2)-methyltransferase homolog
                     isoform a"
                     /protein_id="NP_001026882.2"
                     /db_xref="CCDS:CCDS35496.1"
                     /db_xref="GeneID:60487"
                     /db_xref="HGNC:HGNC:21080"
                     /translation="MALSCTLNRYLLLMAQEHLEFRLPEIKSLLLLFGGQFASSQETYG
                     KSPFWILSIPSEDIARNLMKRTVCAKSIFELWGHGQSPEELYSSLKNYPVEKMVPFLHS
                     DSTYKIKIHTFNKTLTQEEKIKRIDALEFLPFEGKVNLKKPQHVFSVLEDYGLDPNCIP
                     ENPHNIYFGRWIADGQRELIESYSVKKRHFIGNTSMDAGLSFIMANHGKVKENDIVFDP
                     FVGTGGLLIACAHFGAYVYGTDIDYNTVHGLGKATRKNQKWRGPDENIRANLRQYGLEK
                     YYLDVLVSDASKPSWRKGTYFDAIITDPPYGIRESTRRTGSQKEIPKGIEKWEKCPESH
                     VPVSLSYHLSDMFLDLLNFAAETLVLGGRLVYWLPVYTPEYTEEMVPWHPCLELVSNCE
                     QKLSSHTSRRLITMEKVKKFENRDQYSHLLSDHFLPYQGHNSFREKYFSGVTKRIAKEE
                     KSTQE"
     misc_feature    15..17
                     /gene="TRMT11"
                     /gene_synonym="C6orf75; MDS024; TRM11; TRMT11-1"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4G4.1); acetylation site"
     regulatory      1817..1822
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRMT11"
                     /gene_synonym="C6orf75; MDS024; TRM11; TRMT11-1"
                     /note="hexamer: AATAAA"
     polyA_site      1843
                     /gene="TRMT11"
                     /gene_synonym="C6orf75; MDS024; TRM11; TRMT11-1"
                     /note="major polyA site"
ORIGIN
        1 gggcagctgc aatggcgctg tcgtgtaccc ttaacaggta tctgctcctc atggcgcagg
       61 agcatctgga gttccgcctg ccggaaataa agtctttgct tttgcttttt ggaggtcagt
      121 ttgccagcag tcaagaaact tatggaaagt caccattttg gattcttagc attccctctg
      181 aagatattgc aagaaatttg atgaaacgga cagtgtgtgc caagtctata tttgaactat
      241 ggggtcatgg acaatctcct gaggagctgt acagttctct taaaaactac cctgtggaga
      301 agatggttcc atttctacat tcggactcta catataaaat aaagattcac acttttaata
      361 agacattgac acaagaagag aaaatcaagc gaatagatgc acttgaattt ctgccatttg
      421 aaggaaaagt gaatttaaag aaaccgcaac atgtattttc tgttttggag gattatggtt
      481 tagacccaaa ctgcatccct gagaatccac ataatattta ttttggtaga tggattgcag
      541 atggacagag agagcttatt gagtcataca gtgtcaaaaa gagacacttt attggaaata
      601 caagtatgga tgctggtttg tcattcatta tggctaacca tggaaaagtg aaagaaaatg
      661 atattgtctt tgatccattt gttggaacag gtggcctgct gatagcatgt gctcattttg
      721 gtgcatatgt gtatgggaca gacatagact acaacacagt tcatggcttg ggaaaggcta
      781 ctaggaaaaa ccagaagtgg agaggaccag atgaaaacat tagggccaat cttcgtcaat
      841 atggtttaga gaagtattac cttgatgtcc tggtttcaga tgcatctaaa ccttcctgga
      901 ggaagggcac atattttgat gcaatcatta ctgatcctcc atatggtatc agagaatcta
      961 caagaagaac aggttcacag aaggagatac caaaggggat agaaaaatgg gaaaaatgtc
     1021 cagaaagcca tgttcctgtt tccttgagtt atcatctgag tgatatgttt cttgacctgt
     1081 taaacttcgc agctgagacc ctcgttttag gtggaagact agtctattgg ttaccggtgt
     1141 atacgccaga atacactgaa gagatggtgc cttggcaccc ttgcctggaa ctcgttagca
     1201 actgcgagca gaagctttcc agtcacacat caaggcgctt gatcacaatg gaaaaggtga
     1261 agaaatttga gaatcgggac cagtattcac atctgctaag tgatcatttt ctgccatacc
     1321 aaggtcataa ttccttccgt gagaaatatt ttagtggggt aacaaaaaga attgccaagg
     1381 aagaaaaatc cacccaggaa tgaaaattaa gattttgaca atgaagaaag aataagaatt
     1441 tgatttaaaa agacatctgg atgtgaactt tcatgtatga tccagaaaat aggtacggtt
     1501 ttaaaatatt ttatatagaa aagctacaaa gtaaattgag caatgctttt aaagttatct
     1561 ttgttttata gacttttttg ttgtatgtat tacagtcttt ataatcttat ttaatgtata
     1621 tttgtacttt caagtactga tggagataga ctcaaaacag ttattttttt acaattaatc
     1681 tacaaaggga attaatattg ttgactttta aaacatctgc tggatatatt atatgcaatt
     1741 aatagtagtt aagaatttat tcatttggta gatatgttta tttggttttt ggttgtcatc
     1801 gatttacatt gccactaata aaccatattg agaatttcta aaa
//
LOCUS       NM_001031713            5460 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens mitochondrial calcium uniporter regulator 1 (MCUR1),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001031713
VERSION     NM_001031713.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5460)
  AUTHORS   Fan L, Yang H, Zhang B and Ding H.
  TITLE     MCUR1 is a prognostic biomarker for ovarian cancer patients
  JOURNAL   Cancer Biomark 33 (3), 311-316 (2022)
   PUBMED   34459387
  REMARK    GeneRIF: MCUR1 is a prognostic biomarker for ovarian cancer
            patients.
REFERENCE   2  (bases 1 to 5460)
  AUTHORS   Zulkifli M, Neff JK, Timbalia SA, Garza NM, Chen Y, Watrous JD,
            Murgia M, Trivedi PP, Anderson SK, Tomar D, Nilsson R, Madesh M,
            Jain M and Gohil VM.
  TITLE     Yeast homologs of human MCUR1 regulate mitochondrial proline
            metabolism
  JOURNAL   Nat Commun 11 (1), 4866 (2020)
   PUBMED   32978391
  REMARK    GeneRIF: Yeast homologs of human MCUR1 regulate mitochondrial
            proline metabolism. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5460)
  AUTHORS   Jin M, Wang J, Ji X, Cao H, Zhu J, Chen Y, Yang J, Zhao Z, Ren T and
            Xing J.
  TITLE     MCUR1 facilitates epithelial-mesenchymal transition and metastasis
            via the mitochondrial calcium dependent ROS/Nrf2/Notch pathway in
            hepatocellular carcinoma
  JOURNAL   J Exp Clin Cancer Res 38 (1), 136 (2019)
   PUBMED   30909929
  REMARK    GeneRIF: Results found MCUR1 expression significantly higher in HCC
            with metastasis and associated with tumor progression. The essential
            role of MCUR1 in promoting epithelial-mesenchymal transition,
            invasion and migration was found through the activation of
            ROS/Nrf2/Notch signaling by inducing mitochondrial Ca2+ uptake.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5460)
  AUTHORS   Ren T, Wang J, Zhang H, Yuan P, Zhu J, Wu Y, Huang Q, Guo X, Zhang
            J, Ji L, Li J, Zhang H, Yang H and Xing J.
  TITLE     MCUR1-Mediated Mitochondrial Calcium Signaling Facilitates Cell
            Survival of Hepatocellular Carcinoma via Reactive Oxygen
            Species-Dependent P53 Degradation
  JOURNAL   Antioxid Redox Signal 28 (12), 1120-1136 (2018)
   PUBMED   28938844
  REMARK    GeneRIF: The survival advantage conferred by MCUR1-mediated
            mitochondrial Ca(2+) uptake was majorly caused by elevated
            production of mitochondrial reactive oxygen species and subsequent
            AKT/MDM2- induced P53 degradation.
REFERENCE   5  (bases 1 to 5460)
  AUTHORS   Tomar D, Dong Z, Shanmughapriya S, Koch DA, Thomas T, Hoffman NE,
            Timbalia SA, Goldman SJ, Breves SL, Corbally DP, Nemani N,
            Fairweather JP, Cutri AR, Zhang X, Song J, Jana F, Huang J, Barrero
            C, Rabinowitz JE, Luongo TS, Schumacher SM, Rockman ME, Dietrich A,
            Merali S, Caplan J, Stathopulos P, Ahima RS, Cheung JY, Houser SR,
            Koch WJ, Patel V, Gohil VM, Elrod JW, Rajan S and Madesh M.
  TITLE     MCUR1 Is a Scaffold Factor for the MCU Complex Function and Promotes
            Mitochondrial Bioenergetics
  JOURNAL   Cell Rep 15 (8), 1673-1685 (2016)
   PUBMED   27184846
REFERENCE   6  (bases 1 to 5460)
  AUTHORS   Chaudhuri D, Artiga DJ, Abiria SA and Clapham DE.
  TITLE     Mitochondrial calcium uniporter regulator 1 (MCUR1) regulates the
            calcium threshold for the mitochondrial permeability transition
  JOURNAL   Proc Natl Acad Sci U S A 113 (13), E1872-E1880 (2016)
   PUBMED   26976564
  REMARK    GeneRIF: MCUR1 regulates the calcium threshold for the mitochondrial
            permeability transition.
REFERENCE   7  (bases 1 to 5460)
  AUTHORS   Vais H, Tanis JE, Muller M, Payne R, Mallilankaraman K and Foskett
            JK.
  TITLE     MCUR1, CCDC90A, Is a Regulator of the Mitochondrial Calcium
            Uniporter
  JOURNAL   Cell Metab 22 (4), 533-535 (2015)
   PUBMED   26445506
REFERENCE   8  (bases 1 to 5460)
  AUTHORS   Paupe V, Prudent J, Dassa EP, Rendon OZ and Shoubridge EA.
  TITLE     CCDC90A (MCUR1) is a cytochrome c oxidase assembly factor and not a
            regulator of the mitochondrial calcium uniporter
  JOURNAL   Cell Metab 21 (1), 109-116 (2015)
   PUBMED   25565209
  REMARK    GeneRIF: CCDC90A is not directly implicated in MCU function, and
            that the Ca2+ uptake defect associated with loss of CCDC90A function
            is likely secondary to the respiratory chain deficiency.
REFERENCE   9  (bases 1 to 5460)
  AUTHORS   Mallilankaraman K, Cardenas C, Doonan PJ, Chandramoorthy HC, Irrinki
            KM, Golenar T, Csordas G, Madireddi P, Yang J, Muller M, Miller R,
            Kolesar JE, Molgo J, Kaufman B, Hajnoczky G, Foskett JK and Madesh
            M.
  TITLE     MCUR1 is an essential component of mitochondrial Ca2+ uptake that
            regulates cellular metabolism
  JOURNAL   Nat Cell Biol 14 (12), 1336-1343 (2012)
   PUBMED   23178883
  REMARK    Erratum:[Nat Cell Biol. 2013 Jan;15(1):123]
REFERENCE   10  (bases 1 to 5460)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer
            JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.25322.1,
            SRR11853563.27808.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000379170.9/ ENSP00000368468.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL023583.25.
            On Mar 30, 2021 this sequence version replaced NM_001031713.3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5460
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p23"
     gene            1..5460
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /note="mitochondrial calcium uniporter regulator 1"
                     /db_xref="GeneID:63933"
                     /db_xref="HGNC:HGNC:21097"
                     /db_xref="MIM:616952"
     CDS             129..1208
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /EC_number="1.1.1.41"
                     /note="coiled-coil domain-containing protein 90A,
                     mitochondrial; coiled-coil domain containing 90A; MCU
                     regulator 1; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="mitochondrial calcium uniporter regulator 1"
                     /protein_id="NP_001026883.1"
                     /db_xref="CCDS:CCDS35495.1"
                     /db_xref="GeneID:63933"
                     /db_xref="HGNC:HGNC:21097"
                     /db_xref="MIM:616952"
                     /translation="MDCGSVGGQRTQRLPGRQRLLFLPVGLSGRPGGSETSARRCLSAL
                     SDGLGALRPRAPAARGGVSRASPLLLLLLVPSPRLAAAAPRRQLGDWERSRLGYAAPPA
                     GRSSAWRCSPGVAAAAGALPQYHGPAPALVSCRRELSLSAGSLQLERKRRDFTSSGSRK
                     LYFDTHALVCLLEDNGFATQQAEIIVSALVKILEANMDIVYKDMVTKMQQEITFQQVMS
                     QIANVKKDMIILEKSEFSALRAENEKIKLELHQLKQQVMDEVIKVRTDTKLDFNLEKSR
                     VKELYSLNEKKLLELRTEIVALHAQQDRALTQTDRKIETEVAGLKTMLESHKLDNIKYL
                     AGSIFTCLTVALGFYRLWI"
     misc_feature    333..383
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96AQ8.1);
                     transmembrane region"
     misc_feature    1143..1202
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96AQ8.1);
                     transmembrane region"
     regulatory      1207..1212
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /note="hexamer: AATAAA"
     polyA_site      1229
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /note="major polyA site"
     regulatory      5248..5253
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /note="hexamer: AATAAA"
     polyA_site      5277
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
     regulatory      5440..5445
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /note="hexamer: AATAAA"
     polyA_site      5460
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
ORIGIN
        1 aggaaagggc ggtcctgcgc tgtggcccac gctcgctccc gctgtcggac tctgggcctg
       61 gaccgcgcgt ggccggcgcc aaaagcgaga ggcatgagcg cgcgcccggg ccagtgaact
      121 gctcggggat ggactgcggc tcggtcggcg gccagaggac ccagcgcctg cccggccgcc
      181 agcggcttct cttcttgccc gtgggcctca gcggaagacc gggcggcagc gaaacctcag
      241 cacgccgctg cctctctgcg ctctccgacg gtctgggggc gctgcgccct cgcgccccgg
      301 cggcccgcgg cggcgtgtca cgtgcctcac cgctgctcct cctcctgcta gtgccctccc
      361 cgcgcttggc cgccgcagcc ccgcgccggc agctcgggga ctgggagcgc tcgcgcctcg
      421 ggtatgccgc acccccggcc gggcgcagca gcgcgtggag gtgctcaccg ggcgtcgccg
      481 ctgccgccgg cgcccttccc cagtaccacg gcccggcgcc tgcactcgtt tcctgcagga
      541 gagagctaag cttgtctgct ggatccctgc agctggagcg caaaaggaga gatttcacct
      601 cttctgggag caggaaactc tacttcgaca ctcatgcctt agtgtgctta ctggaagaca
      661 atgggtttgc tactcaacaa gcagaaatca ttgtgtctgc attggtcaag atcctggagg
      721 ccaacatgga catcgtctac aaagatatgg tcaccaagat gcagcaggaa atcacttttc
      781 agcaagtaat gtctcagatt gcgaatgtga aaaaggatat gattattttg gagaagagtg
      841 aattttcagc cctcagagca gaaaatgaga aaataaaact cgaactacat cagttaaaac
      901 aacaagtaat ggatgaagtg atcaaagtcc gaacagatac caaattagac ttcaacctag
      961 aaaagagcag agtaaaagaa ttgtattcat tgaacgaaaa gaagctgctg gaattgagaa
     1021 cagaaatagt ggcattgcat gcccagcaag atcgggccct tacccagaca gacaggaaga
     1081 tcgaaactga ggttgctggc ctcaaaacca tgcttgagtc acacaagctt gataatatta
     1141 aatatttagc agggtctata tttacgtgcc taacagtagc tctgggattt tatcgcctgt
     1201 ggatctaata aagtgtctat ttaaagtgat ttctactgtt ttgccttaag aataccagat
     1261 tgttggctgg gtgcggtggc tcacacctgt aattccagca ctttgggagg ctgaggcagg
     1321 tggattacct gaggtcagga gttcgagacc agcctggcca acacggtgaa accccgtctc
     1381 tactaaaaaa ttaaaacatt aggcgggcgt ggtggcgggc gcctgtagtc ccagctactc
     1441 gggaggctaa ggtgtgaacc tgggaggcgg agcttgtagt gagccgagat cacgtcactg
     1501 cactccagcc tgggcaacag agcgagactc cgtctcaaaa aaaaaaaaaa aaccggaata
     1561 ccagattgtt gtccttttgt tttcttgtta cacatttgag cccagatttt gacttaatgt
     1621 gtattattta tttttatgaa aattgtggac acataaccaa gataaagaag tcaggtattc
     1681 catagccatt ccttatctcc tttctgctta gttgactttc tagctgagtg gtgcacagtg
     1741 catggaagat tccacttagc cggaccagga agcttggtct catctgtggt gcacaccaac
     1801 agcaaacatt gatgtaattc tctacaactt aatctttggc acatagagga tttgggggtc
     1861 tccatgttca gggcacaatg gctttaataa gtgctggaaa atcactgaag ctaaaccaag
     1921 agcaccagat cctctttacc taaataacca gtctttaaca tgagctagtc cctgtaccat
     1981 agtattgttt cagctgtagt tggttgtcat gttaataaga cagctgcacg tctaccttct
     2041 tttcttttga tttccattgt cttggtaagt tattgttagg gttattttta atgtgccttc
     2101 cagccagaaa aatcagctgt ctaaagaagc attgcaattg taatggggac tcttacctct
     2161 tagaatgcaa gattttccct cctccctccc tcttctccat ctctttccct catgatttga
     2221 gaactgtaat aatcctccac tggtggcatt acctacctag aaaacctgct gattcttagc
     2281 atggaacttt gcttcagttt gcaggacaaa gtctgcttcc ttccggtctt catttacttt
     2341 ttatacaagg gatgcagtca gctctccatg tataagatac ctagatgatg gatacatatt
     2401 tcataaatga aatttatgtc attaatgaat atccccttgc ccacaaccag ctcaggcttt
     2461 caaaattcga gaatggtcat gccacacagc attctaatct agatggatta attctgttgt
     2521 tcaaaacatt ctcatacctg cctttatatt gaaaacaaat tctagataca actggggtta
     2581 ttctggaaaa gcacattctc accttttttt tttttttgag acggagtctc gcactgtcgc
     2641 agggctggag tgcattgtcg tgatctctgc tcactgcaac ctctgcctcc tgggttcaag
     2701 cgattctcct gcctcagtct cctgagtagc tgggattaca ggtgcccacc accacgccca
     2761 gctaattttt gtatttttag tagagatgag gtttcaccat gttggccagg ctggtctcta
     2821 actcctgacc tcgtgattca cccgccttgg tctcccaaag tagtgggatt acaggcgtga
     2881 gccgctgcgc ctggcccatt ctcatcttat tcaaattact ggcacatggg caagagagac
     2941 aatgacatgg atagaagctt ttctgccttt ctctgcacac acatacagtg aaggaaccac
     3001 aggcagattt tttgatcagt ttggtgaata cattgctcgt tgtcactgtt ccaaccacat
     3061 tggtaaaaaa aatagttacc ttttgtcctt tggatgtcat gtctaaactt tggaaaatat
     3121 aagtcattgc ccttttagag aatgtttgtg tagtccaaag attgtgagct ccatatagta
     3181 tgaaaatcaa gtacttttgc atgagcaata gcagtttcaa agtgaaatat tataatttaa
     3241 tctttttcaa gtagatcaaa aattcttaac tgattaataa aatattttat caatatatca
     3301 tccccctttc agagagaagt ccccagaaga gacagcacac ttagcaattg ccctcattat
     3361 taaaggccta ggtgagtggc ataaagggcc atatgcgatt atgtttcaag gtaaacatta
     3421 cctaaccttg tgtgggttaa aaacagtgaa gtgtccttgt atcctgataa aatttttttt
     3481 taaataacat ggtgggttga catttttgca tctgctataa gttttctcac atgtcgttct
     3541 tcctggtgag agcgggctgc atcattctgg cacttaattt gggtgttcga ttttgctata
     3601 gagttctttg cagtacagca tagcctcttc ttggccttgg gaacagtgaa ctcttctttt
     3661 gatggtgtgg attgcatgca tatctggaga gaggagggct caggactgtg ttcactttat
     3721 ttggtcagat gtattttatt tgaaaaccat ttgagcccaa aatacaagtg tacccttccc
     3781 acttctggct caagcacccg tgagccgact agacgtaata ttaaaactta ctgatgctgg
     3841 gtgcggtggc tcatgcctat aatcccagca ctttgggagg ccaaggcagg cagatcacct
     3901 gaggtcagga gttggagacc agactggcca acatgacgaa atgctctcgc tactaaaaat
     3961 agaaaaatta gccaggcgtg gtggcacacc cctgtaatcc tagctactcg ggaggctgag
     4021 acaggaaaat tgcatgaacc tgggaggcag aggttgcagt gagcagagat tacaccactg
     4081 caacgagact cgggcccaga cgagatctgc ctgggcgaca cagtgagact ctgtctcaaa
     4141 ataaataaat aagtaaatag aacctcctga gctaccctgg cttataagga ttcagattac
     4201 tttaggaaat taggcattag cactaggagg ggggaagatg gctggcaaaa cttctagcta
     4261 gcaacctatg tctagcacat gggtaactaa ccatagcgag atcctgaaca catatcctct
     4321 aggtgcaggt ggagggaacg atgtccaata cctgaagcag aatctcacat ggacggaacg
     4381 tctgtatttc cctctcctgc acgaatcact catcattctt ggagggcttc tctgcattcc
     4441 tccttttctt ctctcccctc ccctgccttt tgtcttttct aaagagtctg aactccgatt
     4501 tccatgctct cctgctacat taataagcaa aacctgcttg tgtgtacggt tctttactgg
     4561 aaacatgact ttttgtttct gtattggttt tactgtcatc cagttttcta gtttaatatc
     4621 tagcaaaact aaatctgaat gtactcgctt tttccgttaa gtatgccaag cacctcggtt
     4681 gaaaggcttg actcaaacca gaagtcttgc tggaattcgt ctctgaacac ttgaaaaaca
     4741 gaaaccctga gccgcaacaa acatgcctct gtgtgtcggg attgcctttg tctctgcttc
     4801 catgtggctt ttccttttgt agctatgctt agtgacataa tcttccctct tctagccttc
     4861 tcctttcaag cctgtctgtt aattaaccat gtcagtattg gcaagcattt atcttccccc
     4921 accctaacat gcaatcttct aagaattttg caaaattcta aacaaatata gagatggtat
     4981 atagaattca tatctagaaa actttgattt taatgtgagc ttatcaaatt tgttctggct
     5041 tttttggcac taaggcaaaa acatgttaac cagaaataat ttattcttca tgtatgtaaa
     5101 atatttgaga atgtttagcc ttttattaga attttatttg gaaaatattt atctttctac
     5161 acattttaca cttatgttcc tttgcttata acccaatttc ttaacttttt tgttacttaa
     5221 gcaaatatca attatgtttt attatctaat aaagtgtaag attcttacta tctaaaatat
     5281 ttaattctgt gtgactaata tacttttctg atcattcaaa ttgaatatga aaagctagaa
     5341 taactgtatt gcaactgtta attccagcca attgtataat gataacactg gtgaatttct
     5401 aagtaaatct aatacttgaa aatttgggta tacatagaaa ataaatttta atataatgta
//
LOCUS       NM_001031715            4253 bp    mRNA    linear   PRI 09-JUL-2023
DEFINITION  Homo sapiens IQ motif containing H (IQCH), transcript variant 1,
            mRNA.
ACCESSION   NM_001031715
VERSION     NM_001031715.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4253)
  AUTHORS   Navarrete-Lopez P, Lombo M, Maroto M, Pericuesta E,
            Fernandez-Gonzalez R, Ramos-Ibeas P, Parra MT, Viera A, Suja JA and
            Gutierrez-Adan A.
  TITLE     An ancient testis-specific IQ motif-containing H gene regulates
            specific transcript isoform expression during spermatogenesis
  JOURNAL   Development 150 (7) (2023)
   PUBMED   36975404
REFERENCE   2  (bases 1 to 4253)
  AUTHORS   Yin LL, Li JM, Zhou ZM and Sha JH.
  TITLE     Identification of a novel testis-specific gene and its potential
            roles in testis development/spermatogenesis
  JOURNAL   Asian J Androl 7 (2), 127-137 (2005)
   PUBMED   15897968
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY014282.2, BC048964.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000335894.9/ ENSP00000336861.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC110292.6, AC106000.6 and AC016355.8.
            On May 17, 2019 this sequence version replaced NM_001031715.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4253
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q23"
     gene            1..4253
                     /gene="IQCH"
                     /gene_synonym="NYDSP5"
                     /note="IQ motif containing H"
                     /db_xref="GeneID:64799"
                     /db_xref="HGNC:HGNC:25721"
                     /db_xref="MIM:612523"
     misc_feature    91..93
                     /gene="IQCH"
                     /gene_synonym="NYDSP5"
                     /note="upstream in-frame stop codon"
     CDS             112..3195
                     /gene="IQCH"
                     /gene_synonym="NYDSP5"
                     /note="isoform 1 is encoded by transcript variant 1; IQ
                     domain-containing protein H; testis development protein
                     NYD-SP5"
                     /codon_start=1
                     /product="IQ domain-containing protein H isoform 1"
                     /protein_id="NP_001026885.2"
                     /db_xref="CCDS:CCDS32273.1"
                     /db_xref="GeneID:64799"
                     /db_xref="HGNC:HGNC:25721"
                     /db_xref="MIM:612523"
                     /translation="MAQNTENHDPVGSILIQIHEDLYQLKEKLTKFSPEEKGETLDIQS
                     LETAIKRTEVGLRIHIEKYLNVVNQNVLTTSVNDESLYTPQASKWLLPTVIDQKSFIFP
                     QESEGTFWQPQRQHSSSLPVFPRAKIKVSKLIKGSNISSLTVLPSSHCTDPYFTPIPVL
                     QADAHKGILSMIERGLIPPTARITFQNPPITPRAAPLHSFDEARKIPTVATFTIPREPP
                     PSPAEVKFFPKKQRSKGKSRRSRGHHDRKAMKVKTPLRALKSLWDYDFLIYDGVIDNTA
                     PDFLAFKEHFSLAWGGIFSLLEHVEKFLRNYAIPEVKIKGNNLVALLPEFELTNKLTRY
                     DLLSVLEDPAHVQMLINLPGQRYKGQDGNSEAAMKIQATWKCYKARKFFLFYRQQKWAS
                     GVIAIAWLLYCHKTRLKKILKESRQRHLENFRIRAKHLAANWNRIRTSRRTIIHIPSLG
                     YSQPVREHIADFNTQQNMQLGRLCDILDANVNVIYICSHHMNDELVLYYKKILSLHAAV
                     KSGNLEDRSDLQDRFKIITPEAVNIFPKHHMCLATHLMYSPKAIKRIKNLIRGTEAYIV
                     SGLLHRDDLAVADMLDIPILGSEPELAHLYSTKSGGKRVFDSANVAVPPGIYDIYSQQQ
                     MIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLEDWR
                     KKWAQEPALVKISEELAGILAQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVT
                     NLTVDMLIEPNGKISVLSTGDQLHAESPFISSGTTVPQTSVDPQVLTYLCLQIGKACRM
                     RDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLE
                     VPRFVPKERKKTKCMSALSMPMLATSRYAVMTTQLRHSNLSLVFHYVFLQICRAHGIGY
                     DVEERQGTVFILYEHLKRHKLGMLTIGEDLQGVLMTFARHLFIIHQEISAPNMQGETNF
                     KTTIADIETILRVTKENKMRFEEEQQSKDDKNLSKPKK"
     misc_feature    757..867
                     /gene="IQCH"
                     /gene_synonym="NYDSP5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VS3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3130..3192
                     /gene="IQCH"
                     /gene_synonym="NYDSP5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VS3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3611..3616
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IQCH"
                     /gene_synonym="NYDSP5"
                     /note="hexamer: AATAAA"
     polyA_site      3630
                     /gene="IQCH"
                     /gene_synonym="NYDSP5"
                     /note="major polyA site"
     regulatory      4228..4233
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IQCH"
                     /gene_synonym="NYDSP5"
                     /note="hexamer: AATAAA"
     polyA_site      4253
                     /gene="IQCH"
                     /gene_synonym="NYDSP5"
                     /note="major polyA site"
ORIGIN
        1 ggaacaggcc aggtcgcgcg cggtgttgcc atggggacga gcggctccgg ctgaaggttt
       61 ccgtgcttgg aaaccgcgcc tccgcggagg tagccgttcc ctgacctagc catggcacag
      121 aacactgaaa accacgaccc tgtcggatcc atcttaatcc agatccatga agacctttat
      181 cagttaaagg agaaattaac aaaattctca cctgaggaaa aaggagagac tctagacatt
      241 cagagtcttg aaacagcaat caaaaggact gaagtggggt taagaattca cattgagaag
      301 tatttaaatg ttgtaaacca gaatgtatta acgacttctg ttaatgatga gagcttatat
      361 actccccagg cttccaaatg gttacttcca actgtaattg atcagaaatc atttattttc
      421 cctcaggaat ctgagggtac attttggcaa ccccaaagac agcacagttc atctctgcct
      481 gtctttccaa gagcaaagat aaaggtttcg aagttaatca aagggtctaa catatccagc
      541 ctcacggttc tgccatcttc tcattgcaca gatccctatt tcactcctat accagtctta
      601 caagcagatg cccacaaagg gattttaagt atgatagaac gagggctgat tccaccaaca
      661 gcaaggatta cctttcagaa tccacccatt acacccagag cagctcctct gcatagtttt
      721 gatgaagcac gtaagattcc aactgtagcc actttcacta tacctcggga accacctcca
      781 tctccagcag aagtgaagtt ctttcccaag aaacaaagat caaaggggaa aagcagaagg
      841 tcaagaggac atcatgatag gaaggccatg aaagtcaaaa cacctttgag agccctgaaa
      901 tcactgtggg attatgactt tttaatttat gatggtgtca tagacaatac agccccagac
      961 ttcttagcat tcaaggaaca ttttagctta gcttggggag gtattttttc tctcttggaa
     1021 cacgtcgaga agtttctcag gaactatgct ataccagaag tcaaaataaa agggaataat
     1081 ttggtggccc tccttccaga gtttgagctg acgaataaac ttaccagata tgaccttctc
     1141 tcagtgttag aggacccagc tcatgtccaa atgctgataa atcttccagg gcaaaggtac
     1201 aagggccaag atggaaattc ggaggccgcc atgaagatcc aagccacatg gaaatgctac
     1261 aaagcaagaa aattcttcct cttttatcgc cagcagaagt gggcatcagg tgtgattgcc
     1321 attgcttggc tgttatattg ccataagact cgactaaaga agatactaaa ggaatcacgt
     1381 cagagacacc tggagaattt tcgcattcga gccaagcatc tggcagccaa ctggaatcgc
     1441 atcaggacct ccaggaggac tattatccat atcccatcat tagggtattc ccagcctgtg
     1501 agagaacata ttgccgattt caacacacag cagaacatgc agctggggag gctgtgtgac
     1561 atcttagatg ccaatgtgaa tgtcatctac atctgctccc atcatatgaa tgacgagtta
     1621 gtgctgtatt acaaaaaaat cctaagtcta catgcagccg tcaaatctgg gaaccttgag
     1681 gacagaagtg acctgcagga caggttcaaa attatcacac ctgaagctgt aaacatcttc
     1741 cctaagcatc atatgtgcct ggccactcac ctgatgtaca gtcccaaggc aatcaaaaga
     1801 ataaaaaatc tcatccgagg aacagaggcc tacatcgtca gcgggctcct ccacagagat
     1861 gatttagctg tggccgatat gttagacata cccatcctgg gctctgagcc tgaactagct
     1921 catctttata gtaccaaatc tggaggcaaa cgtgtctttg acagtgccaa tgtggcagtt
     1981 cctcctggaa tatatgatat ttatagtcag caacagatga tagagcagct gagtcagctg
     2041 ataactgatc acctgcaaat acagcgttgg ctctttaaaa tggactctga gttccgagga
     2101 aatgggactg cattttgtga tattccttcc tacctaaagt gctacaaatg ggtgctaaag
     2161 gagagtagca gatatggcct tgaagactgg agaaagaaat gggcacaaga gccagctttg
     2221 gtgaagatct ctgaggagct ggcgggcatt ttagcacagc acgcacagcc agtcaatgag
     2281 aaacggttcc cgacgtggag gaaattcctc caaacatttc tcagtcaagg gggtgtgatc
     2341 gaagcattcc cacctgcaga caatgtcacc aacctcacag tggacatgct gatagagccc
     2401 aacgggaaaa tcagcgtgct gtcgacaggg gaccagcttc atgctgaaag ccccttcatc
     2461 tcctctggta ccaccgtgcc tcagacctca gtggatcccc aagttctcac ttatttgtgc
     2521 ctccaaattg gaaaagcctg cagaatgaga gatgtggttg gttacttttc gatagatctg
     2581 gtgactttta tagatccaag caccttggaa caacaggtgt gggcaaccgg ccttaacctc
     2641 gcatatagtg accagctggc cctgactcaa ctcaccttat acctgacaaa cggccatctg
     2701 gattgcagtt tgagcaccct ggaagtgccc cgctttgttc caaaggaaag gaagaaaacc
     2761 aaatgcatga gtgcgctgtc aatgccgatg ctggcaacca gtcgctatgc agtgatgacc
     2821 acccagctaa gacacagcaa tctctcactg gttttccact atgtttttct ccagatctgt
     2881 agggcccatg gcattggcta tgatgttgag gaaaggcaag gaactgtttt tatattatat
     2941 gagcacctga agagacacaa gttgggaatg ttaacaatcg gcgaggatct ccagggggtc
     3001 ctcatgacct ttgctcgcca tctcttcatc atccatcaag aaatatcagc acctaatatg
     3061 caaggcgaga ccaattttaa gaccaccatt gctgatattg aaactattct aagagtaaca
     3121 aaggaaaaca aaatgagatt tgaagaggag caacagtcca aagatgataa aaacctctct
     3181 aaacccaaga aatgatcctg gaatacagta cataacaatt tggatcccag tctggaataa
     3241 aaagggcaat ttttttttct gttagaaata aaagccaggg gaaattggtt tgctttgtgt
     3301 gctaggaggt gaatcagaac agattataat gaaatgctct ttttaaaaca ttgtttatta
     3361 agtgatctta ttttatttat taaaccaaaa cttatttgtg ttttcatttg agagtgttga
     3421 acaatccctt cttcttctca aactcagaaa aaagtaatct gataaaagaa gaaagttaaa
     3481 agtcttactg atatcacctc cgcatttact tcctcatagg cctcaggatt atgtagcttt
     3541 tattttttat gttttataaa gttttctcct atttctaata gtccatcgat cttctgcatt
     3601 tataggtttg aataaaggct taagaattgc tatttgtcaa aacacaaatg cctttttttc
     3661 aaagcttcaa attatattga aattatattt atatgaattt ttaagtgact atcattcatc
     3721 gtgtttttgt tataccaagc cactattgtc tgctattgtt gccatttttc aaaaagtagg
     3781 ataagccagc atctagttaa ccaaagcatc agaatgtatc taggtggcag tatctgctct
     3841 tagtttaaga tggagtgtag ctcgagctct gtagcttgaa taaacatttg tattctctag
     3901 ttctccattt aatacagcag taggattttt tcaagtttag ttcaacatta tactaccttt
     3961 aaaaaggcag actgttaaga ttgtagtagt gctgactcta actttcagca ttcacttcat
     4021 aattgtccaa aaatatttcc acatcagtga gctttactga agggtgaaat aaaagcaaat
     4081 tacaacacca aaaccattat tgttttaaag aatgaccttt atgtctataa aaatatttta
     4141 gtgtattggg gaaaggaata ggatttttac ctgtggaatt tcaataattt gttaactgtg
     4201 attcagccac aggctaagag tttctgtaat aaaattaaca tttgtgtgtg tca
//
LOCUS       NM_001031716            2269 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens nucleic acid binding protein 1 (NABP1), transcript
            variant 1, mRNA.
ACCESSION   NM_001031716
VERSION     NM_001031716.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2269)
  AUTHORS   Boucher D, Kariawasam R, Burgess J, Gimenez A, Ocampo TE, Ferguson
            B, Naqi A, Walker GJ, Bolderson E, Gamsjaeger R, O'Byrne KJ, Cubeddu
            L, Khanna KK and Richard DJ.
  TITLE     hSSB2 (NABP1) is required for the recruitment of RPA during the
            cellular response to DNA UV damage
  JOURNAL   Sci Rep 11 (1), 20256 (2021)
   PUBMED   34642383
  REMARK    GeneRIF: hSSB2 (NABP1) is required for the recruitment of RPA during
            the cellular response to DNA UV damage. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2269)
  AUTHORS   Li H, Chi X, Li R, Ouyang J and Chen Y.
  TITLE     A Novel lncRNA, AK130181, Contributes to HIV-1 Latency by Regulating
            Viral Promoter-Driven Gene Expression in Primary CD4+ T Cells
  JOURNAL   Mol Ther Nucleic Acids 20, 754-763 (2020)
   PUBMED   32408053
REFERENCE   3  (bases 1 to 2269)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2269)
  AUTHORS   Shen Z, Ren W, Bai Y, Chen Z, Li J, Li B, Jin T, Cao P and Shao Y.
  TITLE     DIRC3 and near NABP1 genetic polymorphisms are associated laryngeal
            squamous cell carcinoma patient survival
  JOURNAL   Oncotarget 7 (48), 79596-79604 (2016)
   PUBMED   27793000
  REMARK    GeneRIF: SNPs rs11903757, with closest proximity to NABP1 and SDPR,
            and rs966423 in DIRC3, were associated with survival in laryngeal
            squamous cell carcinoma patients.
REFERENCE   5  (bases 1 to 2269)
  AUTHORS   Peters U, Jiao S, Schumacher FR, Hutter CM, Aragaki AK, Baron JA,
            Berndt SI, Bezieau S, Brenner H, Butterbach K, Caan BJ, Campbell PT,
            Carlson CS, Casey G, Chan AT, Chang-Claude J, Chanock SJ, Chen LS,
            Coetzee GA, Coetzee SG, Conti DV, Curtis KR, Duggan D, Edwards T,
            Fuchs CS, Gallinger S, Giovannucci EL, Gogarten SM, Gruber SB, Haile
            RW, Harrison TA, Hayes RB, Henderson BE, Hoffmeister M, Hopper JL,
            Hudson TJ, Hunter DJ, Jackson RD, Jee SH, Jenkins MA, Jia WH,
            Kolonel LN, Kooperberg C, Kury S, Lacroix AZ, Laurie CC, Laurie CA,
            Le Marchand L, Lemire M, Levine D, Lindor NM, Liu Y, Ma J, Makar KW,
            Matsuo K, Newcomb PA, Potter JD, Prentice RL, Qu C, Rohan T, Rosse
            SA, Schoen RE, Seminara D, Shrubsole M, Shu XO, Slattery ML, Taverna
            D, Thibodeau SN, Ulrich CM, White E, Xiang Y, Zanke BW, Zeng YX,
            Zhang B, Zheng W and Hsu L.
  CONSRTM   Colon Cancer Family Registry and the Genetics and Epidemiology of
            Colorectal Cancer Consortium
  TITLE     Identification of Genetic Susceptibility Loci for Colorectal Tumors
            in a Genome-Wide Meta-analysis
  JOURNAL   Gastroenterology 144 (4), 799-807 (2013)
   PUBMED   23266556
  REMARK    Review article
REFERENCE   6  (bases 1 to 2269)
  AUTHORS   Li Y, Bolderson E, Kumar R, Muniandy PA, Xue Y, Richard DJ, Seidman
            M, Pandita TK, Khanna KK and Wang W.
  TITLE     HSSB1 and hSSB2 form similar multiprotein complexes that participate
            in DNA damage response
  JOURNAL   J Biol Chem 284 (35), 23525-23531 (2009)
   PUBMED   19605351
  REMARK    GeneRIF: hSSB1 and hSSB2 form two separate complexes with similar
            structures, and both complexes participate in DNA damage response.
REFERENCE   7  (bases 1 to 2269)
  AUTHORS   Huang J, Gong Z, Ghosal G and Chen J.
  TITLE     SOSS complexes participate in the maintenance of genomic stability
  JOURNAL   Mol Cell 35 (3), 384-393 (2009)
   PUBMED   19683501
REFERENCE   8  (bases 1 to 2269)
  AUTHORS   Richard DJ, Bolderson E, Cubeddu L, Wadsworth RI, Savage K, Sharma
            GG, Nicolette ML, Tsvetanov S, McIlwraith MJ, Pandita RK, Takeda S,
            Hay RT, Gautier J, West SC, Paull TT, Pandita TK, White MF and
            Khanna KK.
  TITLE     Single-stranded DNA-binding protein hSSB1 is critical for genomic
            stability
  JOURNAL   Nature 453 (7195), 677-681 (2008)
   PUBMED   18449195
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC017114.1, AL833684.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000425611.9/ ENSP00000403683.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC114778.5.
            On Aug 14, 2020 this sequence version replaced NM_001031716.4.
            Summary: Single-stranded DNA (ssDNA)-binding proteins, such as
            OBFC2A, are ubiquitous and essential for a variety of DNA metabolic
            processes, including replication, recombination, and detection and
            repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied
            by OMIM, Jun 2008].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2269
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.3"
     gene            1..2269
                     /gene="NABP1"
                     /gene_synonym="NABP1-OT1; OBFC2A; SOSS-B2; SSB2"
                     /note="nucleic acid binding protein 1"
                     /db_xref="GeneID:64859"
                     /db_xref="HGNC:HGNC:26232"
                     /db_xref="MIM:612103"
     misc_feature    426..428
                     /gene="NABP1"
                     /gene_synonym="NABP1-OT1; OBFC2A; SOSS-B2; SSB2"
                     /note="upstream in-frame stop codon"
     CDS             480..1094
                     /gene="NABP1"
                     /gene_synonym="NABP1-OT1; OBFC2A; SOSS-B2; SSB2"
                     /note="isoform 1 is encoded by transcript variant 1; SOSS
                     complex subunit B2; sensor of ssDNA subunit B2;
                     single-stranded DNA-binding protein 2; sensor of
                     single-strand DNA complex subunit B2; NABP1 3'UTR
                     overlapping transcript 1;
                     oligonucleotide/oligosaccharide-binding fold-containing
                     protein 2A; oligonucleotide/oligosaccharide-binding fold
                     containing 2A; lncRNA AK130181"
                     /codon_start=1
                     /product="SOSS complex subunit B2 isoform 1"
                     /protein_id="NP_001026886.1"
                     /db_xref="CCDS:CCDS33352.1"
                     /db_xref="GeneID:64859"
                     /db_xref="HGNC:HGNC:26232"
                     /db_xref="MIM:612103"
                     /translation="MNRVNDPLIFIRDIKPGLKNLNVVFIVLEIGRVTKTKDGHEVRSC
                     KVADKTGSITISVWDEIGGLIQPGDIIRLTRGYASMWKGCLTLYTGRGGELQKIGEFCM
                     VYSEVPNFSEPNPDYRGQQNKGAQSEQKNNSMNSNMGTGTFGPVGNGVHTGPESREHQF
                     SHAGRSNGRGLINPQLQGTASNQTVMTTISNGRDPRRAFKR"
     misc_feature    819..1040
                     /gene="NABP1"
                     /gene_synonym="NABP1-OT1; OBFC2A; SOSS-B2; SSB2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96AH0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1491..1496
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NABP1"
                     /gene_synonym="NABP1-OT1; OBFC2A; SOSS-B2; SSB2"
                     /note="hexamer: ACTAAA"
     polyA_site      1519
                     /gene="NABP1"
                     /gene_synonym="NABP1-OT1; OBFC2A; SOSS-B2; SSB2"
                     /note="major polyA site"
     regulatory      2239..2244
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NABP1"
                     /gene_synonym="NABP1-OT1; OBFC2A; SOSS-B2; SSB2"
                     /note="hexamer: AATAAA"
     polyA_site      2269
                     /gene="NABP1"
                     /gene_synonym="NABP1-OT1; OBFC2A; SOSS-B2; SSB2"
                     /note="major polyA site"
ORIGIN
        1 agtcgctgtt tgggacgctg ggtgtgcggt gttctgtctc cgctcccgtt tcgctgtcac
       61 agcccgttcc ttcccggagc ccgggacagg ctgggcgcgc gcccgtgtga gtgagcggga
      121 ctcagggcag aagtgtcccc tcactgcgtt tttttttcct tttatccaaa gaacggggca
      181 gttagtacgc ttgccttcct gtcgcccggt tgggagcggg gttggtgtgc ggagtggttc
      241 gccttttttt ctttagaact tgtgagcctt tttttttttt tttttttttt ttcttttttt
      301 aggctcagtg ctgtccgggc tggtttgccc ggtccctgac taacggcttt ctgccccttc
      361 tctcgccacc cctgcccaag gtcgcccctc tgccttcgcc cctgtcccgg gagggtggga
      421 agctttgacc ccgccctgcc cactcgcgtc tccgcagccg tagccgcgcc tgtcccaata
      481 tgaatagggt caacgaccca cttattttta taagagatat taagcccgga ctgaaaaact
      541 taaatgtcgt ctttattgtc ctggagatag gacgcgtgac caaaaccaaa gacggccatg
      601 aagtgagatc gtgcaaagta gcagataaaa cgggcagcat cactatttcc gtgtgggatg
      661 agatcggagg tcttatacag ccaggggata ttattcggtt gaccagaggg tatgcatcca
      721 tgtggaaagg atgtctgaca ctttatactg gaaggggtgg tgaacttcaa aaaattgggg
      781 aattttgtat ggtttattca gaagtgccaa atttcagtga acccaaccca gattatcgag
      841 gacagcagaa caaaggggca cagagtgaac agaagaataa ttccatgaat agtaatatgg
      901 gtacaggtac atttggacca gtgggaaatg gtgttcacac tggccctgaa tcaagggaac
      961 accagttttc acatgctggc agaagcaatg gccggggact tataaatcca caactacaag
     1021 gaacagctag taatcaaaca gtgatgacca caataagtaa tggcagggac cctcggagag
     1081 cctttaaaag atgacctatg ctaaatactc atgtgtagtt tttatactac atgccctact
     1141 tgaacactta ttgcactttt atttattgtt aactgtgaaa agtacgtcct ttattgggtt
     1201 tccttttata ttcttggttt gttaagaaga atggtttgtt tttatagcaa aactgttaag
     1261 ctgctcgagt ctcctgttga agaatgggaa cactgaaaag taggggcatt tatttttaga
     1321 gtaaaaagat tattggatag cctttaaaaa acctgcaccc atttcatggg tgagttactt
     1381 aagacatcag ctttatagcc tctatgagtc tatcttctgt ataagttttg taatatttaa
     1441 cataaggctt aatgggagat gttcttttgt cttgtattca gatattgcca actaaagcaa
     1501 taaccatcaa aaaacacaag aacttgtcaa tgctagcagt aatttttgag tgtttgtggc
     1561 tctcggaatg attgacttcg ttcagtgact actattaaga ttttccaagg actgactcat
     1621 cccaaatttt tgttgtatta ccaaaaaaac agattcctta tcagaatttg gaatagaatg
     1681 tgatctctat tgcaacaagt aattttaaaa gaaagctaca tttattttag agtagtgctc
     1741 ctaacatgta ttatcaactt tgtggattac attggaggaa aatttaaaac tggggccttg
     1801 aatatttatt ttttgaaact accatgttaa atactgaagt ataatttggg ggagttataa
     1861 agttatgata aacattcatc tgattatttt aaacaatagt tgtggtagat aaacatactg
     1921 gaggtgagtc aaattgaatt catatagtaa catgcagtct gaagtcctag ttacttaata
     1981 ggtactcagc ctggagtgaa aatcctgggt actgactttg agaggagtga gtgtgcatgt
     2041 tgtcaaagtt tctgaacaca gttcacatag ccttattagc aaaagtttta agaaatggct
     2101 ctatcaaaga agcaattgca gctttattca gaaatataaa agtggaattt atgtacatgt
     2161 cataagtggt acccacttcc cctttttact gtagggtgga taactcttag gatttaactc
     2221 tttgaatatt atctcttgaa taaagcatgt gttaatgtta acaaaccta
//
LOCUS       NM_001031721            3165 bp    mRNA    linear   PRI 08-JUL-2023
DEFINITION  Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1,
            mRNA.
ACCESSION   NM_001031721
VERSION     NM_001031721.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3165)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3165)
  AUTHORS   Purfield DC, Evans RD, Carthy TR and Berry DP.
  TITLE     Genomic Regions Associated With Gestation Length Detected Using
            Whole-Genome Sequence Data Differ Between Dairy and Beef Cattle
  JOURNAL   Front Genet 10, 1068 (2019)
   PUBMED   31749838
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.82402.1,
            SRR1803614.63328.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000293471.11/ ENSP00000293471.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK027565.1, BC057776.1, CA427456.1 and AC011460.3.
            On Nov 22, 2018 this sequence version replaced NM_001031721.3.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3165
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     gene            1..3165
                     /gene="ZNF613"
                     /note="zinc finger protein 613"
                     /db_xref="GeneID:79898"
                     /db_xref="HGNC:HGNC:25827"
     misc_feature    416..418
                     /gene="ZNF613"
                     /note="upstream in-frame stop codon"
     CDS             428..2281
                     /gene="ZNF613"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="zinc finger protein 613 isoform 1"
                     /protein_id="NP_001026891.2"
                     /db_xref="CCDS:CCDS33089.1"
                     /db_xref="GeneID:79898"
                     /db_xref="HGNC:HGNC:25827"
                     /translation="MIKSQESLTLEDVAVEFTWEEWQLLGPAQKDLYRDVMLENYSNLV
                     SVGYQASKPDALFKLEQGEPWTVENEIHSQICPEIKKVDNHLQMHSQKQRCLKRVEQCH
                     KHNAFGNIIHQRKSDFPLRQNHDTFDLHGKILKSNLSLVNQNKRYEIKNSVGVNGDGKS
                     FLHAKHEQFHNEMNFPEGGNSVNTNSQFIKHQRTQNIDKPHVCTECGKAFLKKSRLIYH
                     QRVHTGEKPHGCSICGKAFSRKSGLTEHQRNHTGEKPYECTECDKAFRWKSQLNAHQKI
                     HTGEKSYICSDCGKGFIKKSRLINHQRVHTGEKPHGCSLCGKAFSKRSRLTEHQRTHTG
                     EKPYECTECDKAFRWKSQLNAHQKAHTGEKSYICRDCGKGFIQKGNLIVHQRIHTGEKP
                     YICNECGKGFIQKGNLLIHRRTHTGEKPYVCNECGKGFSQKTCLISHQRFHTGKTPFVC
                     TECGKSCSHKSGLINHQRIHTGEKPYTCSDCGKAFRDKSCLNRHRRTHTGERPYGCSDC
                     GKAFSHLSCLVYHKGMLHAREKCVGSVKLENPCSESHSLSHTRDLIQDKDSVNMVTLQM
                     PSVAAQTSLTNSAFQAESKVAIVSQPVARSSVSADSRICTE"
     regulatory      2277..2282
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF613"
                     /note="hexamer: AATAAA"
     polyA_site      2297
                     /gene="ZNF613"
                     /note="major polyA site"
     regulatory      3141..3146
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF613"
                     /note="hexamer: AATGAA"
     polyA_site      3165
                     /gene="ZNF613"
ORIGIN
        1 gcccagaagt ggaataattc aggaaagtgc aggttctggg aagtctcggt gggttccccg
       61 caaaatcaga gatggcatct cactatgttg cccaggctga tcttgaactc ctgacctcaa
      121 gtgatcctct ctccttggcc tcctaaagtg ctgggattcc aggtgtgagc cacttcaccc
      181 agccacattt atccatcttg taaaatattg ctttgttttt tggtgcattt caaacccaca
      241 ggtcctgact tcaggagcaa gacacttcaa gtgaggtgag gaggaggttc caggacctgg
      301 ataccatcct ttgcagggat gtaattcacc agagaccaag atttctagcc agaaattgag
      361 ggcagctcaa ggagagacta cagacacagc atcctactta ctggctattt cccagtaaca
      421 aaagaaaatg atcaagtccc aggaatcact gaccctggag gatgtggctg tggagttcac
      481 ttgggaggag tggcagctcc tcggccctgc tcagaaggac ctgtaccgag acgtgatgtt
      541 ggagaactat agcaacctcg tgtcagtggg gtatcaagcc agcaaaccag atgcactctt
      601 caagttggaa caaggagagc catggacagt agaaaatgaa atccacagcc aaatctgtcc
      661 agaaatcaag aaagttgaca atcatctaca gatgcactca caaaagcaaa gatgtctgaa
      721 gagagtggaa caatgccata aacataatgc atttggaaac atcattcatc agaggaaaag
      781 tgattttcct ttaaggcaaa atcatgatac atttgactta catgggaaaa tactgaaatc
      841 aaatttaagt ttagtcaacc agaacaaaag gtatgaaatc aagaattctg tgggggttaa
      901 tggagatggg aaatccttcc ttcatgccaa gcatgaacaa tttcataatg aaatgaactt
      961 ccccgaaggt ggaaattctg tgaatacaaa ttcacaattc attaagcatc agcgaactca
     1021 aaacatagat aaaccccatg tatgcactga gtgtgggaag gctttcctca agaagtctcg
     1081 cctcatctat catcagagag ttcacactgg ggagaaacct catggatgca gtatatgtgg
     1141 gaaagccttc tccagaaagt ccgggctcac tgaacaccag agaaaccaca caggagagaa
     1201 accctatgaa tgcactgaat gtgacaaagc attccgctgg aaatcacagc tcaatgcaca
     1261 ccagaaaatt catacaggag agaagtcata tatatgcagt gattgtggaa aaggcttcat
     1321 caagaagtct cggctcatta atcatcagag agttcataca ggagagaaac cacatggatg
     1381 cagcctgtgt gggaaggcct tctccaaaag gtccaggctc actgaacacc agagaactca
     1441 tacaggagag aaaccctatg aatgcactga atgtgacaaa gcattccgct ggaaatcaca
     1501 gctcaatgca catcagaaag ctcacacagg agagaagtca tatatatgcc gtgattgtgg
     1561 aaaaggcttc attcagaagg gaaatctcat tgtacatcag cgaattcata ctggagaaaa
     1621 accctatata tgcaatgaat gtggaaaagg cttcatccaa aagggcaacc tccttattca
     1681 tcgacgtact cacactggag agaaacccta tgtatgcaat gaatgtggga aaggcttcag
     1741 ccagaagaca tgtttaatat cccatcagag atttcacaca ggaaagacac cctttgtatg
     1801 tactgagtgt ggaaaatcct gctcacacaa gtcaggtctc attaaccacc agagaattca
     1861 cacaggagag aaaccctata catgcagtga ctgtgggaaa gctttcagag ataaatcatg
     1921 tctcaacaga catcggagaa ctcatacagg ggagagaccg tatggatgct ctgattgtgg
     1981 gaaagctttc tcccacttgt catgccttgt ttatcataag ggaatgctgc atgcaagaga
     2041 gaaatgtgta ggttcagtca aattggaaaa tccttgctca gagagtcata gcttatcaca
     2101 tacacgtgat ctcatacagg ataaagactc tgttaacatg gtgactctgc agatgccttc
     2161 tgtggcagct cagacctcat taactaacag tgcgttccaa gcagagagca aagtagccat
     2221 tgtgagccag cctgttgcca gaagttcagt ctcagcagat agtagaattt gcacagaata
     2281 aaaaccatat gaatgcagtg aatgtggtag tgctttcagt gatcaattac atcatatgtc
     2341 acaaaaaaca cagaggaaca aactgatata ttcaaggtgg aaagcccttg aataaaacct
     2401 tatggctaat aagcatatac tcagagaaaa atagtatgaa gtggagactg ggaaattctt
     2461 ttatgggaag atagatcttc tcatcagtga ccatagatca catcttcagt gagcttatag
     2521 ttggtagaaa tataatgatc atggaaaagt ccttgttcag aaacagtacg ccagtaggta
     2581 tcagggggtt tacacaggag agaaactttt ggaagacctt tgaaggctat gaatgtggca
     2641 gggttgctag tggtacattc tgccttatcc tcagagggaa tcatatagaa ataaaactat
     2701 gaaaatgtaa ctagaacatc ttcatcaaaa tatgaaagaa cacacgaagc aaataagccc
     2761 tgtgaaaagg agtattttag agatttcgat cagaaatcta acatcattat atggcagata
     2821 atatacagga tgtgtatttt aggacaatat accttgaatc actagttgat atgtcaatga
     2881 ctaattaaaa ggggttgtca gtgttacaca tcattggtta aatttatagc acaatgtacc
     2941 tcttccccct tttttgataa gagtcttcta ttcccaacca agatcattat atgattagct
     3001 cttgtgtttc tttgattcca aatttcttca cttgttattt cagactactg aagctcttca
     3061 aaaggaaaaa tgtatttaat ttaataatgt aacacaacaa gtttggatgt gtttaacttt
     3121 ataaataatc accccagagg aatgaagttc aaaacttgtg aataa
//
LOCUS       NM_001031723            5967 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens DnaJ heat shock protein family (Hsp40) member B14
            (DNAJB14), transcript variant 1, mRNA.
ACCESSION   NM_001031723
VERSION     NM_001031723.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5967)
  AUTHORS   Li K, Jiang Q, Bai X, Yang YF, Ruan MY and Cai SQ.
  TITLE     Tetrameric Assembly of K+ Channels Requires ER-Located Chaperone
            Proteins
  JOURNAL   Mol Cell 65 (1), 52-65 (2017)
   PUBMED   27916661
  REMARK    GeneRIF: ER-located J-protein chaperones were identified as key
            regulators for the iogenesis and physiological function of ERG K+
            channels. They regulate two distinct aspects of K+ channel
            biogenesis, the stabilization and assembly of channel subunits.
REFERENCE   2  (bases 1 to 5967)
  AUTHORS   Goodwin EC, Motamedi N, Lipovsky A, Fernandez-Busnadiego R and
            DiMaio D.
  TITLE     Expression of DNAJB12 or DNAJB14 causes coordinate invasion of the
            nucleus by membranes associated with a novel nuclear pore structure
  JOURNAL   PLoS One 9 (4), e94322 (2014)
   PUBMED   24732912
  REMARK    GeneRIF: Over-expression of DNAJB12 or DNAJB14 causes the formation
            of elaborate membranous structures within cell nuclei, designated
            DJANGOS for DNAJ-associated nuclear globular structures. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 5967)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   4  (bases 1 to 5967)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.126686.1,
            SRR1803615.174620.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000442697.7/ ENSP00000404381.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA854416.1, BC022248.1, AY358272.1, AC097460.3, AP001962.2 and
            AL121021.1.
            On Nov 23, 2018 this sequence version replaced NM_001031723.3.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5967
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q23"
     gene            1..5967
                     /gene="DNAJB14"
                     /gene_synonym="EGNR9427; PRO34683"
                     /note="DnaJ heat shock protein family (Hsp40) member B14"
                     /db_xref="GeneID:79982"
                     /db_xref="HGNC:HGNC:25881"
                     /db_xref="MIM:617487"
     misc_feature    9..11
                     /gene="DNAJB14"
                     /gene_synonym="EGNR9427; PRO34683"
                     /note="upstream in-frame stop codon"
     CDS             48..1187
                     /gene="DNAJB14"
                     /gene_synonym="EGNR9427; PRO34683"
                     /note="isoform 1 is encoded by transcript variant 1; dnaJ
                     homolog subfamily B member 14; DnaJ (Hsp40) homolog,
                     subfamily B, member 14"
                     /codon_start=1
                     /product="dnaJ homolog subfamily B member 14 isoform 1"
                     /protein_id="NP_001026893.1"
                     /db_xref="CCDS:CCDS34035.1"
                     /db_xref="GeneID:79982"
                     /db_xref="HGNC:HGNC:25881"
                     /db_xref="MIM:617487"
                     /translation="MEGNRDEAEKCVEIAREALNAGNREKAQRFLQKAEKLYPLPSARA
                     LLEIIMKNGSTAGNSPHCRKPSGSGDQSKPNCTKDSTSGSGEGGKGYTKDQVDGVLSIN
                     KCKNYYEVLGVTKDAGDEDLKKAYRKLALKFHPDKNHAPGATDAFKKIGNAYAVLSNPE
                     KRKQYDLTGNEEQACNHQNNGRFNFHRGCEADITPEDLFNIFFGGGFPSGSVHSFSNGR
                     AGYSQQHQHRHSGHEREEERGDGGFSVFIQLMPIIVLILVSLLSQLMVSNPPYSLYPRS
                     GTGQTIKMQTENLGVVYYVNKDFKNEYKGMLLQKVEKSVEEDYVTNIRNNCWKERQQKT
                     DMQYAAKVYRDDRLRRKADALSMDNCKELERLTSLYKGG"
     misc_feature    210..329
                     /gene="DNAJB14"
                     /gene_synonym="EGNR9427; PRO34683"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TBM8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    702..770
                     /gene="DNAJB14"
                     /gene_synonym="EGNR9427; PRO34683"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TBM8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    780..842
                     /gene="DNAJB14"
                     /gene_synonym="EGNR9427; PRO34683"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TBM8.1);
                     transmembrane region"
     regulatory      2644..2649
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJB14"
                     /gene_synonym="EGNR9427; PRO34683"
                     /note="hexamer: AATAAA"
     polyA_site      2673
                     /gene="DNAJB14"
                     /gene_synonym="EGNR9427; PRO34683"
                     /note="major polyA site"
     regulatory      5940..5945
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJB14"
                     /gene_synonym="EGNR9427; PRO34683"
                     /note="hexamer: AATAAA"
     polyA_site      5967
                     /gene="DNAJB14"
                     /gene_synonym="EGNR9427; PRO34683"
ORIGIN
        1 gcccttctta gctgcgctgc cggaggaaac ggaagaagga gcaagctatg gaggggaaca
       61 gggatgaggc tgagaaatgt gtcgagatcg cccgggaggc cctgaacgcc ggcaaccgcg
      121 agaaggccca gcgcttcctg cagaaggccg agaagctcta cccactgccc tcggcccgcg
      181 cactattgga aataattatg aaaaatggaa gcacggctgg aaatagccct cattgccgaa
      241 aaccatcagg tagtggcgat caaagcaagc ctaattgcac aaaggacagc acatctggta
      301 gtggtgaagg tggaaaaggc tataccaaag accaagtaga tggagttctc agcataaaca
      361 aatgtaaaaa ttactatgaa gtacttggag ttacgaaaga tgctggtgat gaagatttga
      421 aaaaagctta tagaaagctt gctttgaagt ttcatccaga caaaaaccat gcacctggag
      481 caacagatgc ttttaaaaag attggaaatg cttatgctgt tttaagtaat ccagaaaagc
      541 gaaaacagta tgacctcacg ggcaatgaag aacaagcatg taaccaccaa aacaatggca
      601 gatttaattt ccatagaggt tgtgaagctg atataactcc agaagacttg tttaatatat
      661 tttttggggg tggatttcct tcaggtagtg tacattcttt ttcaaatgga agagctggtt
      721 atagccaaca acatcagcat cgacatagtg gacatgaaag agaagaggaa agaggagatg
      781 gaggtttttc tgtgtttatc cagctgatgc ccataattgt attgatcctc gtgtcattat
      841 taagccagtt gatggtctct aatcctcctt attccttata tcccagatct ggaactgggc
      901 aaactattaa aatgcaaaca gaaaacttgg gtgttgttta ttatgtcaac aaggacttca
      961 aaaatgaata taaaggaatg ttattacaaa aggtagaaaa gagtgtggag gaagattatg
     1021 tgactaatat tcgaaataac tgctggaaag aaagacaaca aaaaacagat atgcagtatg
     1081 cagcaaaagt ataccgtgat gatcgactcc gaaggaaggc agatgccttg agcatggaca
     1141 actgtaaaga attagagcgg cttaccagtc tttataaagg aggatgaact ggaattttta
     1201 tttatacctt ttagcgtact ctttattttt tctgtaagta agtttggttt catcatgagg
     1261 gatgaaggaa aagatttgat actgaaaact aaactgaata gttggttcct gaaatcttgg
     1321 actgtttatg acctactggc tcctttaaat agtaactgaa aactaaaatg gaatatttta
     1381 gttaacgctt ctacaagtat tttcatttta aaagcttaca tgattcctaa ctaaagtgtc
     1441 atgagaaagg attatcacac ctgtagcaat ttccagtttt agtgattctc cattttttcc
     1501 cttgtcatgt aaatatttat ggaatgatca ttttgtgtac atacaggtta ctgctttttt
     1561 atttaaattc ttttagtgtt tagctccatg agacacttca gtttaaattg atggaataaa
     1621 tgttatatga cacatttaca ttttccttat caaggtgtca aatatgtgga ctttaaacaa
     1681 tgaaactttt tcaaaaagaa aaaacaaaaa ctttaacttt gtgtaaaatc ttatagtatt
     1741 atcagcttag agggaattga tatttttaat attgccgtta tattccaaaa tatatattga
     1801 gataaatgaa ctggtgtaga atatcagttt gctatttagt tttatgaatt actatacata
     1861 tacatgcata gaaatgaaat gctatactga taaattttaa agaaaatatg aggaaatggc
     1921 tataaatatt aaactaaaag ggtcttcaac agtaaagtgc agttatgtca tttaaaattc
     1981 caatacttta aaggccacca aattttgatg tatatgtcct tgaagggctg ctaaaattta
     2041 tgaagaggac tcacattttc ccccatagaa atttgcagtt tcttggtgat catttaagca
     2101 ggatccaaag aagttccttt acaaataagt aataagaaaa atgagtacta aaatacagct
     2161 ttgtgccttt taaccctatg ccaactccta aacatataag tagattacag tatacttatc
     2221 tgatcagagc atgatctgtt tggccacatg caagtgtgag cagaaataga gcagcacgta
     2281 gaatagtaac ttaaagcaag tcatccttta aaaattctga gctaaaatct atttaccatt
     2341 gagtaattga attaatccca taggaataag ctccttgtaa gtaaatccat gatatgaatt
     2401 agaaaaaaaa aacagctgga aattgaagtt tttgatgcct gtatactgga tatgaaacta
     2461 tttgatttct agtcttctgt gtttagcagt tgtaatattt taatgatttt gcttcatact
     2521 cggttaatgg aacataaaca tatctttgat acttctttgt gagtgagaga atgctagata
     2581 gggtggcttt gttctttgtt taagtttttt ttcctgaatg tagttaattt atggcatctg
     2641 ttgaataaaa ctgctaaaat gacctcttaa aaatgttctg ttgtatcccc ttttccaggt
     2701 gaatcaatag aaatgcctga ttgaattagt aggttaaact aaacaacata ctgtcatagg
     2761 aaaactggag agcttaacca acttgctctt agaaatgtta ccttaaaaaa aaaaaaaaag
     2821 cagtgcttaa gagaaaatac aattttaatt attttgttga gcctgcagag taagttttta
     2881 aaaatataag ttcatagcat tttaattaac tttgaaagtt catatgcatc agaaaattta
     2941 tgaaaatttg aatgaaaaaa atttcatcta tttatttttc taattttaat ggcaaattta
     3001 cactattatg gctgataatt ctgtgaactt accttcttgt tgactgattc tttttccctt
     3061 aatcccagct ttaaggagat aggtgaagtt attgtacaaa gttaagtgat accataaagt
     3121 atatattata aagtcataca tggcttttgg acagtattat atttcagttg cagtgctgca
     3181 ttccattaaa tttcataaaa tgctagggaa aatgtgtttg ataaaatttt ctgcagtgag
     3241 aaatgacaga ctgagtgcct gacaatttaa gccacatatg aagtatgcaa gtaaagattc
     3301 agtccttaat gtcatctata tcatggtata aaagctcaac aagtatctta taatttggag
     3361 ttaactttat aaagtaagaa gagtttggat atcttgataa aagattttca tgtttgctgc
     3421 tttttttata ataaaaatcc caacattttg ccatcttatg tttagctaca tgaacttcgc
     3481 aatttcatcg gctcattcta atgaccacct aaaagtcctc aatctttgaa tattgcttta
     3541 ttagctcctc taactggtat tctaacagtt tagcagcact tatatttatt aatgctttac
     3601 atttttaccc ctttttgtgt aaacacaaat acacccatgc atatacacac aaacattatt
     3661 gtccttgtga gggtttgggg gaaatgaaaa atagtacctt tctcctcttc ttttgattcc
     3721 ttagttccca aatagactgg tgctagtcat ttagtcatct gtaaatttcg aaatgtagtt
     3781 tgattaaatg tgaactgaat tctcagcaat gaaaaatgtc aagttgaatt catctaataa
     3841 gtgaaaataa tatattttgt aaacagatta catttgaaca cctaaataag tatttgtttc
     3901 ataatcatta catgcttgtt tatgatttac aaagatttgg tagagaaaag tacagtcctt
     3961 aaggcatata tatgccaatg cattaaacta ctcagctttt gtgccagctc aggtgttcat
     4021 aggaacagga atgtggaata ccagcttttt actttaatta tacttttatg ctgaattttt
     4081 cttccagtta aacctttaat tacactagta tgtaaagtag ttactgagaa aaataagttt
     4141 ttgatttccc ttctgttgat ctgtaacatt tttaaatgaa gctatttaac acatgacatg
     4201 ctaatgttac ttaatggatt cctatgtatt tcattaaaaa aaagtctccc acctgtgtta
     4261 agacagctaa atatttcttg atgttggctt gaggaccaag tgagccatct tgccagttaa
     4321 gcaagtttta tatcagagga ccaaatggtt aagaagagaa tttgtacatt tcttgagctt
     4381 ccccatgtga agcttgggtt cagtactatc ctattactat ccatcttcat aatgagtgaa
     4441 gcaaactgaa agggaattca taatcttttt tcttatctga acagaaaaac taatgaaaat
     4501 caacaataaa tctttatttt aattttcatt caacagctga aaaaccatgt ctgttgacca
     4561 cattggacca ttgcctagtt aaaatccata aaattcccta taaaccaatg aaaagaaact
     4621 tgtctggcaa taatttccaa cattttaaat tctaattttt agttacaaag aaaaaggata
     4681 gaatgaggct tttcaaggaa ttcttgctca tcccttcaat tatttggcag gtaaaacagt
     4741 cctagaattc agcttccttt ttggttttat tactattaaa tagatacttt catataaatg
     4801 gaaacacttt tcctcaaaac attaattcaa aacatactcc ttatattaag gattatagca
     4861 ccatattttt tgtatattcc ctatgtgtaa ctttttcctg ttggtatgtg atatttttca
     4921 tttaatatga ctatctgctg gtgttggggc caatagattt gtgaatattc tgtggatgtg
     4981 tctatgtata ggtgtatata tatatatata tatttttttt tttttttccc agctaattac
     5041 ctcaaatgtg tgattgttta atatatacca cactatgttt gcacagagca gggcttccat
     5101 tagcagtgga tatttttatg tctgactttg aaaatcagtc aacacaattt cattggtgtg
     5161 aattatttgt tgctcttttt catattttaa tggagagatt cctattataa ggcccatgct
     5221 tcaaacataa ttatatcttt ctatatccag ccatctggaa atacataggg gtaagaagta
     5281 tttcttgaaa tgtccttgtt tagtaagtta gtaaaaactg ggatgactag ttgccaagat
     5341 gtcttgtaac tgcatagcag atgacacctg gcatggcaag tctcattcac ttcagcacaa
     5401 cactctgtac atttcagtct gatattctac tttgccattt aaggacacca ttaaaatcat
     5461 agagattttc agtgacattg gagtattgta attattactt tcaaaaaatt atttttaata
     5521 ggatgattaa accaatgaga agaaacacac ataaatgata ttttgcagtt tatctgtatt
     5581 aagaaatgct tcttgccaat ttctagtttt agtttttgga ttgctacata agactttctt
     5641 tccatttact ttatgtgttt ttaaaagctg caggtaattt ttaaggtttg atggaattat
     5701 aatggaagcc ttgtataagt taaatgaaat tggtaaagga gagcttactt tgtctataat
     5761 gcattcagga ttaaaaatta gatttcaaaa tgaaatgtct gatttgtaaa atatttaatg
     5821 ttatatcaga cttacataaa attttctgtg agaactcaaa tgcatttgat ttttaatgaa
     5881 tgttctgaat gaaatatgaa tttttgtctt tcagtctctg tagtttatct caatatatta
     5941 ataaaaaggt ctgttctcac tgtaaaa
//
LOCUS       NM_001031725            2229 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens DEAD-box helicase 59 (DDX59), transcript variant 1,
            mRNA.
ACCESSION   NM_001031725
VERSION     NM_001031725.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2229)
  AUTHORS   Xie P, Wang Y, Liao Y, Han Q, Qiu Z, Chen Y and Zuo X.
  TITLE     MicroRNA-628-5p inhibits cell proliferation in glioma by targeting
            DDX59
  JOURNAL   J Cell Biochem 120 (10), 17293-17302 (2019)
   PUBMED   31111544
  REMARK    GeneRIF: MicroRNA-628-5p inhibits cell proliferation in glioma by
            targeting DDX59.
REFERENCE   2  (bases 1 to 2229)
  AUTHORS   Yang L, Zhang H, Chen D, Ding P, Yuan Y and Zhang Y.
  TITLE     EGFR and Ras regulate DDX59 during lung cancer development
  JOURNAL   Gene 642, 95-102 (2018)
   PUBMED   29133145
  REMARK    GeneRIF: Study presents evidence that DDX59 protein can be
            upregulated by MEK/ERK/MAP kinase pathway downstream of EGFR and Ras
            signaling. Increased expression of DDX59 mediates the tumorigenecity
            of EGFR and Ras in lung cancer.
REFERENCE   3  (bases 1 to 2229)
  AUTHORS   Salpietro V, Efthymiou S, Manole A, Maurya B, Wiethoff S, Ashokkumar
            B, Cutrupi MC, Dipasquale V, Manti S, Botia JA, Ryten M, Vandrovcova
            J, Bello OD, Bettencourt C, Mankad K, Mukherjee A, Mutsuddi M and
            Houlden H.
  TITLE     A loss-of-function homozygous mutation in DDX59 implicates a
            conserved DEAD-box RNA helicase in nervous system development and
            function
  JOURNAL   Hum Mutat 39 (2), 187-192 (2018)
   PUBMED   29127725
  REMARK    GeneRIF: Analysis of human brain gene expression provides evidence
            that DDX59 is enriched in oligodendrocytes and might act within
            pathways of leukoencephalopathies-associated genes.
REFERENCE   4  (bases 1 to 2229)
  AUTHORS   Faily S, Perveen R, Urquhart J, Chandler K and Clayton-Smith J.
  TITLE     Confirmation that mutations in DDX59 cause an autosomal recessive
            form of oral-facial-digital syndrome: Further delineation of the
            DDX59 phenotype in two new families
  JOURNAL   Eur J Med Genet 60 (10), 527-532 (2017)
   PUBMED   28711741
  REMARK    GeneRIF: The novel DDX59 mutation is associated with
            oral-facial-digital syndrome.
REFERENCE   5  (bases 1 to 2229)
  AUTHORS   You J, Wang X, Wang J, Yuan B and Zhang Y.
  TITLE     DDX59 promotes DNA replication in lung adenocarcinoma
  JOURNAL   Cell Death Discov 3, 16095 (2017)
   PUBMED   28090355
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2229)
  AUTHORS   Shamseldin HE, Rajab A, Alhashem A, Shaheen R, Al-Shidi T, Alamro R,
            Al Harassi S and Alkuraya FS.
  TITLE     Mutations in DDX59 implicate RNA helicase in the pathogenesis of
            orofaciodigital syndrome
  JOURNAL   Am J Hum Genet 93 (3), 555-560 (2013)
   PUBMED   23972372
  REMARK    GeneRIF: These data strongly implicate DDX59 RNA helicase family
            member in the pathogenesis of orofaciodigital syndrome.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.115086.1,
            SRR1660805.119768.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000331314.11/ ENSP00000330460.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL445483.13.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001031725.5.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1). Variants 1, 4 and 5
            all encode the same isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2229
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..2229
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="DEAD-box helicase 59"
                     /db_xref="GeneID:83479"
                     /db_xref="HGNC:HGNC:25360"
                     /db_xref="MIM:615464"
     misc_feature    147..149
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="upstream in-frame stop codon"
     CDS             153..2012
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /EC_number="3.6.4.13"
                     /note="isoform 1 is encoded by transcript variant 1;
                     probable ATP-dependent RNA helicase DDX59; DEAD box protein
                     59; zinc finger HIT domain-containing protein 5; DEAD
                     (Asp-Glu-Ala-Asp) box polypeptide 59; zinc finger HIT-type
                     containing 5"
                     /codon_start=1
                     /product="probable ATP-dependent RNA helicase DDX59 isoform
                     1"
                     /protein_id="NP_001026895.2"
                     /db_xref="CCDS:CCDS30964.1"
                     /db_xref="GeneID:83479"
                     /db_xref="HGNC:HGNC:25360"
                     /db_xref="MIM:615464"
                     /translation="MFVPRSLKIKRNANDDGKSCVAKIIKPDPEDLQLDKSRDVPVDAV
                     ATEAATIDRHISESCPFPSPGGQLAEVHSVSPEQGAKDSHPSEEPVKSFSKTQRWAEPG
                     EPICVVCGRYGEYICDKTDEDVCSLECKAKHLLQVKEKEEKSKLSNPQKADSEPESPLN
                     ASYVYKEHPFILNLQEDQIENLKQQLGILVQGQEVTRPIIDFEHCSLPEVLNHNLKKSG
                     YEVPTPIQMQMIPVGLLGRDILASADTGSGKTAAFLLPVIMRALFESKTPSALILTPTR
                     ELAIQIERQAKELMSGLPRMKTVLLVGGLPLPPQLYRLQQHVKVIIATPGRLLDIIKQS
                     SVELCGVKIVVVDEADTMLKMGFQQQVLDILENIPNDCQTILVSATIPTSIEQLASQLL
                     HNPVRIITGEKNLPCANVRQIILWVEDPAKKKKLFEILNDKKLFKPPVLVFVDCKLGAD
                     LLSEAVQKITGLKSISIHSEKSQIERKNILKGLLEGDYEVVVSTGVLGRGLDLISVRLV
                     VNFDMPSSMDEYVHQIGRVGRLGQNGTAITFINNNSKRLFWDIAKRVKPTGSILPPQLL
                     NSPYLHDQKRKEQQKDKQTQNDLVTGANLMDIIRKHDKSNSQK"
     misc_feature    321..446
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1V6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    342..344
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5T1V6.1); phosphorylation site"
     misc_feature    378..380
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T1V6.1); phosphorylation site"
     misc_feature    576..635
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1V6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    618..620
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T1V6.1); phosphorylation site"
     misc_feature    630..632
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T1V6.1); phosphorylation site"
     misc_feature    759..845
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1V6.1);
                     Region: Q motif"
     misc_feature    1209..1220
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1V6.1);
                     Region: DEAD box"
     regulatory      2125..2130
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="hexamer: AATAAA"
     polyA_site      2143
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="major polyA site"
     regulatory      2202..2207
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="hexamer: AATAAA"
     polyA_site      2229
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="major polyA site"
ORIGIN
        1 gctccgctcc gcaccaccaa ccccgggccg cagtcctgac gagcgggtca gggcttgtcg
       61 ggcggaagcc tggcctggag cctggaaggg ggagacggcc cgagcgggag cgggagcgga
      121 cgcggcctca gtcctgcgcg gaatattgaa ggatgtttgt tccaagatct ctaaaaatca
      181 agaggaatgc taatgatgat ggcaaaagtt gtgtggctaa gataattaaa ccagacccag
      241 aagaccttca gttggacaaa agcagagatg ttcccgttga tgctgtagct acagaagcag
      301 ccacaataga caggcacatc agcgaatcat gccctttccc cagcccaggt ggccagttgg
      361 cagaggttca ttcagtaagt cccgagcagg gtgcgaagga cagccatcct tctgaagagc
      421 ccgttaagtc attttccaaa acacagcgct gggcagaacc aggggaaccc atctgtgttg
      481 tctgtggtcg ttatggagag tatatctgtg ataagacaga tgaagatgtg tgtagtttgg
      541 agtgtaaagc gaaacatctt ctacaagtta aggaaaagga agagaaatca aaactcagca
      601 atccacagaa ggctgattct gagccagagt ctccactgaa tgcttcctat gtctacaaag
      661 agcacccctt tattttgaac cttcaggaag accagattga aaatcttaaa cagcagctgg
      721 gaattttagt tcaagggcaa gaagtcacca ggcccattat tgactttgaa cattgtagtc
      781 tccctgaggt cttaaatcac aacttgaaga aatcaggcta tgaggtgcca actcccattc
      841 aaatgcagat gattcctgtg ggacttctgg gaagagacat tctggccagt gcagatactg
      901 gctcaggaaa aacagctgct tttcttcttc ctgttatcat gcgagcttta ttcgagagca
      961 aaactccatc tgcgctcatt cttacaccaa ccagagagtt agccattcag atagagagac
     1021 aagctaaaga attgatgagt ggcctgccac gcatgaaaac tgtgcttctt gtagggggct
     1081 tacccttacc cccacagctt tatcgtctgc aacaacatgt taaggttatc atagcaaccc
     1141 ctgggcgact tctggatata ataaagcaga gctctgtaga actctgtggt gtaaagattg
     1201 tggtagtaga tgaagctgat accatgttaa agatgggttt tcaacaacaa gtgcttgaca
     1261 ttttggaaaa cattcctaat gattgtcaga ccattttggt ttcagccaca attccaacta
     1321 gcatagaaca gctagcaagc cagcttctgc ataatcctgt gagaattatc actggagaaa
     1381 agaacctacc ttgtgccaat gtacgtcaga ttattttgtg ggtagaagac ccagccaaaa
     1441 agaaaaaatt atttgaaatt ttaaatgata agaaactctt taagcctcca gtgttagtat
     1501 ttgtggactg caaactagga gcagatcttt tgagtgaagc cgttcagaaa atcacagggc
     1561 tgaaaagcat atctatacat tcagagaagt cgcaaataga aaggaaaaac atattgaagg
     1621 gattacttga aggagactat gaagttgtag tgagcacagg agtcttggga cgaggcctag
     1681 acttgatcag tgtcaggctg gttgtcaatt ttgatatgcc ttcaagtatg gatgagtatg
     1741 tccatcagat tggaagagta ggaagattag gtcaaaatgg aacagcgatt actttcatca
     1801 ataataattc aaaaagactc ttctgggata ttgcaaaacg agtaaagccc acaggatcca
     1861 ttcttccccc tcagttatta aattccccat accttcatga ccagaagaga aaggaacaac
     1921 agaaagataa acagacacag aatgatctgg ttacaggagc taatcttatg gatattatca
     1981 gaaaacatga taaaagtaat tctcagaaat gattttctct gccacttgaa tatttttttt
     2041 tattgtatat agtcagcaaa aaattatggt ttgcataaat ggaaatgtac atgaatttta
     2101 aaaattttaa gatattttta atttaataaa atttatataa ctatattgta tttatttccc
     2161 ttaattctta taaattaaaa acatcagaaa atgaattatt aaataaaaga cagtgttttc
     2221 ttttctgga
//
LOCUS       NM_001031727            3178 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens methylthioribose-1-phosphate isomerase 1 (MRI1),
            transcript variant 1, mRNA.
ACCESSION   NM_001031727
VERSION     NM_001031727.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3178)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 3178)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3178)
  AUTHORS   Li HR, Qiu BQ, Gao J, Jin C, Jiang JH and Ding JY.
  TITLE     Overexpression of EI2BL promoted human non-small cell lung cancer
            progression by inducing cell EMT phenotype
  JOURNAL   J Clin Pathol 73 (3), 139-146 (2020)
   PUBMED   31586937
  REMARK    GeneRIF: Elevated expression of EI2BL promoted non-small cell lung
            cancer cell proliferation, migration and invasion.
REFERENCE   4  (bases 1 to 3178)
  AUTHORS   Templeton PD, Litman ES, Metzner SI, Ahn NG and Sousa MC.
  TITLE     Structure of mediator of RhoA-dependent invasion (MRDI) explains its
            dual function as a metabolic enzyme and a mediator of cell invasion
  JOURNAL   Biochemistry 52 (33), 5675-5684 (2013)
   PUBMED   23859498
  REMARK    GeneRIF: Data indicate that the structural elements in MRDI distal
            from the MTR-1-P catalytic site are responsible for the invasion
            phenotype.
REFERENCE   5  (bases 1 to 3178)
  AUTHORS   Sunker A and Alkuraya FS.
  TITLE     Identification of MRI1, encoding translation initiation factor
            eIF-2B subunit alpha/beta/delta-like protein, as a candidate locus
            for infantile epilepsy with severe cystic degeneration of the brain
  JOURNAL   Gene 512 (2), 450-452 (2013)
   PUBMED   23124037
  REMARK    GeneRIF: Identification of MRI1, encoding translation initiation
            factor eIF-2B subunit alpha/beta/delta-like protein, as a candidate
            locus for infantile epilepsy with severe cystic degeneration of the
            brain.
REFERENCE   6  (bases 1 to 3178)
  AUTHORS   Xin X, Rual JF, Hirozane-Kishikawa T, Hill DE, Vidal M, Boone C and
            Thierry-Mieg N.
  TITLE     Shifted Transversal Design smart-pooling for high coverage
            interactome mapping
  JOURNAL   Genome Res 19 (7), 1262-1269 (2009)
   PUBMED   19447967
REFERENCE   7  (bases 1 to 3178)
  AUTHORS   Bumann M, Djafarzadeh S, Oberholzer AE, Bigler P, Altmann M,
            Trachsel H and Baumann U.
  TITLE     Crystal structure of yeast Ypr118w, a methylthioribose-1-phosphate
            isomerase related to regulatory eIF2B subunits
  JOURNAL   J Biol Chem 279 (35), 37087-37094 (2004)
   PUBMED   15215245
REFERENCE   8  (bases 1 to 3178)
  AUTHORS   Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A,
            Meil A, Wojcik J, Legrain P and Gauthier JM.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   9  (bases 1 to 3178)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   10  (bases 1 to 3178)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.275889.1,
            SRR1803611.271851.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000040663.8/ ENSP00000040663.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM147362.1, BC001703.1,
            AC008686.8 and AL834276.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001031727.3.
            Summary: This enzyme functions in the methionine salvage pathway by
            catalyzing the interconversion of methylthioribose-1-phosphate and
            methythioribulose-1-phosphate. Elevated expression of the encoded
            protein is associated with metastatic melanoma and this protein
            promotes melanoma cell invasion independent of its enzymatic
            activity. Mutations in this gene may be associated with vanishing
            white matter disease (VMWD). [provided by RefSeq, Jul 2016].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3178
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13"
     gene            1..3178
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /note="methylthioribose-1-phosphate isomerase 1"
                     /db_xref="GeneID:84245"
                     /db_xref="HGNC:HGNC:28469"
                     /db_xref="MIM:615105"
     misc_feature    29..31
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /note="upstream in-frame stop codon"
     CDS             68..1177
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /EC_number="5.3.1.23"
                     /note="isoform 1 is encoded by transcript variant 1;
                     translation initiation factor eIF-2B subunit
                     alpha/beta/delta-like protein; MTR-1-P isomerase;
                     methylthioribose-1-phosphate isomerase homolog;
                     S-methyl-5-thioribose-1-phosphate isomerase 1; mediator of
                     RhoA-dependent invasion"
                     /codon_start=1
                     /product="methylthioribose-1-phosphate isomerase isoform 1"
                     /protein_id="NP_001026897.1"
                     /db_xref="CCDS:CCDS32923.1"
                     /db_xref="GeneID:84245"
                     /db_xref="HGNC:HGNC:28469"
                     /db_xref="MIM:615105"
                     /translation="MTLEAIRYSRGSLQILDQLLLPKQSRYEAVGSVHQAWEAIRAMKV
                     RGAPAIALVGCLSLAVELQAGAGGPGLAALVAFVRDKLSFLVTARPTAVNMARAARDLA
                     DVAAREAEREGATEEAVRERVICCTEDMLEKDLRDNRSIGDLGARHLLERVAPSGGKVT
                     VLTHCNTGALATAGYGTALGVIRSLHSLGRLEHAFCTETRPYNQGARLTAFELVYEQIP
                     ATLITDSMVAAAMAHRGVSAVVVGADRVVANGDTANKVGTYQLAIVAKHHGIPFYVAAP
                     SSSCDLRLETGKEIIIEERPGQELTDVNGVRIAAPGIGVWNPAFDVTPHDLITGGIITE
                     LGVFAPEELRTALTTTISSRDGTLDGPQM"
     misc_feature    68..70
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9BV20.1); acetylation site"
     misc_feature    569..571
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /note="Transition state stabilizer; propagated from
                     UniProtKB/Swiss-Prot (Q9BV20.1); other site"
     regulatory      3154..3159
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /note="hexamer: AATAAA"
     polyA_site      3178
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /note="major polyA site"
ORIGIN
        1 gccccgctcc caagtgcgcg cggaccccta gctccctctg agttgcgctg ggcttggctg
       61 ctgcaccatg accctggagg cgatccgcta ctcgcggggc tccctgcaga tcctagacca
      121 gctgctgctg cccaagcaga gccgctacga ggcggtgggc tcggtgcacc aggcctggga
      181 ggccatccgc gccatgaagg tgcggggcgc cccggccata gccctggtgg gctgtctcag
      241 cctcgccgtg gagctgcagg cgggcgccgg gggaccggga ctcgccgcgc tcgtggcctt
      301 cgtgcgcgac aagctgagct tcctcgtcac cgcccggccc accgctgtca acatggcccg
      361 cgccgcccgc gacctggctg atgttgcagc ccgggaggcc gaacgggagg gcgctacgga
      421 agaggcggtc cgggagagag tgatctgctg caccgaggac atgctggaga aagacctcag
      481 agacaaccga agcattgggg acctaggagc ccgccacctc ctggagcggg tggcccccag
      541 cggtggcaag gtgactgtgc tgacccactg taacactggt gctctggcca ccgctggcta
      601 tggtacagcc ctaggtgtga ttcgctcact gcacagcctg ggccgcctgg agcatgcctt
      661 ctgcacagag acccggccct acaaccaggg agcccggctg acggcctttg agctggtcta
      721 tgagcagatc cccgccaccc ttatcaccga cagcatggtg gctgctgcca tggcccatag
      781 gggcgtgtca gctgtggtcg tgggagctga ccgcgtggtt gccaacggcg acacagccaa
      841 caaggtgggc acctaccagc tggccattgt cgccaagcac catggcattc ccttctacgt
      901 ggctgccccc agctcttcat gtgacctccg tctggagacc ggcaaggaga tcattattga
      961 agagcgaccg ggccaggagc tgaccgatgt taatggggtc cggattgcag cacctgggat
     1021 tggagtttgg aatcctgcct tcgatgtcac cccccacgac ctcatcactg gtggcatcat
     1081 cacagaactg ggggtctttg cccctgagga gctccggaca gccctaacca ccaccatctc
     1141 ttccagggat ggaaccctag atggacccca gatgtaacca actcagctct ccctagcctg
     1201 cctctctagg tttttcaata catttcttga atggctaccc aaaagctgac cgtccagccc
     1261 ctgaccacac ttgttcctag tgcagggagc tcagacaggg ccttccatct agagcccagc
     1321 acctagagcc aggctgccca gattcaaatc ctgactccgc cacttttccc actgtatgat
     1381 cttgggcaag tcacttcacc tctctgtgcc ttggtttcct catttataaa atgtggataa
     1441 caggccgggc gcagtggctc acacctgtaa tcccagcact ttgggaggcc gaggcaggtg
     1501 gatcacaaga tcaggagatt gagaccatcc tggctaacat ggtgaaaccc catctctact
     1561 aaaaatacaa aaaattagcc gggtgtggtg gtgggcacct gcagtcccag ctacttggga
     1621 ggctgaggca ggagaatggc gtgaaactgg gaggcagagc ttgcagtgag ccgagatagc
     1681 gccactgcac tccagcctgg gcaacagagc gagactccgt ctcaaaaata aatataatta
     1741 attaattatt taattaaaaa aataaaaaat aaatgtggat aatactagta cctccctctt
     1801 aaggtcaggg ctggagctag ggtgacatct ccagggcaga attttaagag gacaccaaaa
     1861 aagctcagca accaagataa aaaatatttt aaagcaatat tttgttttgg gttttttttt
     1921 tttgagatca agtatcactc gttacccagg ctggaatgta gaggcgagat ctcagctcac
     1981 tgaaacctgt gcctccccgg ttcaagcgat tctcctgcca cagcctcctg agtagctggg
     2041 attacaggca tgcgccacca tgcccagcta atttttctat ttttagtaga gacatgattt
     2101 caccatgttg gccaggctgg tctcgaactc ctgactcaaa tgatccccct gcctcagcct
     2161 cccaaagtgc tgggactaca ggcatgagcc actgtgcctg accttacagc agtatttttt
     2221 aaaaatcaaa attaatgcaa aaatccatga tgaggccagg cttggtggct catgcctgta
     2281 attccagcac tttgggagga tcccttgagc ccaggtgttt gagaccagtt tgggtaacat
     2341 aggaagagct tgtctctaca aacaaaaatt taaaaacaat gagctgggca tggaactcac
     2401 acctctagcc ccagctactc aggctgaagt gggaggatgg cttgagccca ggagttcaag
     2461 gatgcagtgt gctttgattg cactactgca cttcacccta agcaacagag tgagacccca
     2521 tctctttaaa aaaaaaaaaa aatccatgat gaacaaaaca agtatttgtt tgagacgggg
     2581 tctcgctctg tcgcccaggc tggagtacag tggtgccatc tcagctcact gcaacctccg
     2641 ccttctgggt tcaagcgact ctcctgcctc agcctcccga gtagctggga ttacaggagc
     2701 ctggcactat gcctggctaa tttttgtatt tttattggag acaccatgtt agtcgtggct
     2761 ggtctccaac tcctgacctc gggtgatccg cgccccgcgg cctccgaaag tgctgggatt
     2821 acaagcgtga gccaccgtgc ccggcctaaa taaaattttg aagaggctag aaccccgcac
     2881 ttgtgccttg agcttactga cctcaacacc ctggttccac taaaacttta tttacaaaat
     2941 tatgctgccg gtctgcagga tgtagtttaa caatttgatt attttggata ttaaaatatt
     3001 ttttaagtct tgaaaatatt gtttactatt accaaagttt ttgaaccttc ttaaattctg
     3061 taccagaggt gagtgccaca ccctaaccta gtctgagttt ttatgtgtaa agatcataaa
     3121 acgttgtaag ttttctaaaa cacataagct ctcaataaac gttagcttat cattgtca
//
LOCUS       NM_001031732            6233 bp    mRNA    linear   PRI 14-AUG-2023
DEFINITION  Homo sapiens YTH N6-methyladenosine RNA binding protein C1 (YTHDC1),
            transcript variant 1, mRNA.
ACCESSION   NM_001031732
VERSION     NM_001031732.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6233)
  AUTHORS   Ye M, Chen J, Yu P, Hu C, Wang B, Bao J, Lu F, Zhong Y, Yan L, Kan
            J, Bai J, Tian Y and Tang Q.
  TITLE     WTAP activates MAPK signaling through m6A methylation in VEGFA
            mRNA-mediated by YTHDC1 to promote colorectal cancer development
  JOURNAL   FASEB J 37 (8), e23090 (2023)
   PUBMED   37428639
  REMARK    GeneRIF: WTAP activates MAPK signaling through m6A methylation in
            VEGFA mRNA-mediated by YTHDC1 to promote colorectal cancer
            development.
REFERENCE   2  (bases 1 to 6233)
  AUTHORS   Su Y, Wang B, Huang J, Huang M and Lin T.
  TITLE     YTHDC1 positively regulates PTEN expression and plays a critical
            role in cisplatin resistance of bladder cancer
  JOURNAL   Cell Prolif 56 (7), e13404 (2023)
   PUBMED   37070134
  REMARK    GeneRIF: YTHDC1 positively regulates PTEN expression and plays a
            critical role in cisplatin resistance of bladder cancer.
REFERENCE   3  (bases 1 to 6233)
  AUTHORS   Yan B, Li X, Peng M, Zuo Y, Wang Y, Liu P, Ren W and Jin X.
  TITLE     The YTHDC1/GLUT3/RNF183 axis forms a positive feedback loop that
            modulates glucose metabolism and bladder cancer progression
  JOURNAL   Exp Mol Med 55 (6), 1145-1158 (2023)
   PUBMED   37258572
  REMARK    GeneRIF: The YTHDC1/GLUT3/RNF183 axis forms a positive feedback loop
            that modulates glucose metabolism and bladder cancer progression.
REFERENCE   4  (bases 1 to 6233)
  AUTHORS   Wu C, Cui J, Huo Y, Shi L and Wang C.
  TITLE     Alternative splicing of HOXB-AS3 underlie the promoting effect of
            nuclear m6A reader YTHDC1 on the self-renewal of leukemic stem cells
            in acute myeloid leukemia
  JOURNAL   Int J Biol Macromol 237, 123990 (2023)
   PUBMED   36906205
  REMARK    GeneRIF: Alternative splicing of HOXB-AS3 underlie the promoting
            effect of nuclear m6A reader YTHDC1 on the self-renewal of leukemic
            stem cells in acute myeloid leukemia.
REFERENCE   5  (bases 1 to 6233)
  AUTHORS   Zhu Y, Wang R, Zou J, Tian S, Yu L, Zhou Y, Ran Y, Jin M, Chen H and
            Zhou H.
  TITLE     N6-methyladenosine reader protein YTHDC1 regulates influenza A virus
            NS segment splicing and replication
  JOURNAL   PLoS Pathog 19 (4), e1011305 (2023)
   PUBMED   37053288
  REMARK    GeneRIF: N6-methyladenosine reader protein YTHDC1 regulates
            influenza A virus NS segment splicing and replication. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 6233)
  AUTHORS   Rafalska I, Zhang Z, Benderska N, Wolff H, Hartmann AM, Brack-Werner
            R and Stamm S.
  TITLE     The intranuclear localization and function of YT521-B is regulated
            by tyrosine phosphorylation
  JOURNAL   Hum Mol Genet 13 (15), 1535-1549 (2004)
   PUBMED   15175272
  REMARK    GeneRIF: phosphorylation causes sequestration of YT521-B in an
            insoluble nuclear form, which is unable to change splice sites
REFERENCE   7  (bases 1 to 6233)
  AUTHORS   Wilkinson FL, Holaska JM, Zhang Z, Sharma A, Manilal S, Holt I,
            Stamm S, Wilson KL and Morris GE.
  TITLE     Emerin interacts in vitro with the splicing-associated factor,
            YT521-B
  JOURNAL   Eur J Biochem 270 (11), 2459-2466 (2003)
   PUBMED   12755701
  REMARK    GeneRIF: YT521-B has a role in a gene expression in the pathogenesis
            of Emery-Dreifuss muscular dystrophy
REFERENCE   8  (bases 1 to 6233)
  AUTHORS   Stoilov P, Rafalska I and Stamm S.
  TITLE     YTH: a new domain in nuclear proteins
  JOURNAL   Trends Biochem Sci 27 (10), 495-497 (2002)
   PUBMED   12368078
  REMARK    Review article
REFERENCE   9  (bases 1 to 6233)
  AUTHORS   Nayler O, Hartmann AM and Stamm S.
  TITLE     The ER repeat protein YT521-B localizes to a novel subnuclear
            compartment
  JOURNAL   J Cell Biol 150 (5), 949-962 (2000)
   PUBMED   10973987
REFERENCE   10  (bases 1 to 6233)
  AUTHORS   Hartmann AM, Nayler O, Schwaiger FW, Obermeier A and Stamm S.
  TITLE     The interaction and colocalization of Sam68 with the
            splicing-associated factor YT521-B in nuclear dots is regulated by
            the Src family kinase p59(fyn)
  JOURNAL   Mol Biol Cell 10 (11), 3909-3926 (1999)
   PUBMED   10564280
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC041119.1, SRR14038192.782194.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000344157.9/ ENSP00000339245.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC074378.4.
            On Jun 2, 2019 this sequence version replaced NM_001031732.3.
            Transcript Variant: This variant (1) encodes isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6233
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.2"
     gene            1..6233
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="YTH N6-methyladenosine RNA binding protein C1"
                     /db_xref="GeneID:91746"
                     /db_xref="HGNC:HGNC:30626"
                     /db_xref="MIM:617283"
     misc_feature    200..202
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="upstream in-frame stop codon"
     CDS             338..2521
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="isoform 1 is encoded by transcript variant 1; YTH
                     domain-containing protein 1; splicing factor YT521-B;
                     putative splicing factor YT521; YTH domain containing 1"
                     /codon_start=1
                     /product="YTH domain-containing protein 1 isoform 1"
                     /protein_id="NP_001026902.1"
                     /db_xref="CCDS:CCDS33992.1"
                     /db_xref="GeneID:91746"
                     /db_xref="HGNC:HGNC:30626"
                     /db_xref="MIM:617283"
                     /translation="MAADSREEKDGELNVLDDILTEVPEQDDELYNPESEQDKNEKKGS
                     KRKSDRMESTDTKRQKPSVHSRQLVSKPLSSSVSNNKRIVSTKGKSATEYKNEEYQRSE
                     RNKRLDADRKIRLSSSASREPYKNQPEKTCVRKRDPERRAKSPTPDGSERIGLEVDRRA
                     SRSSQSSKEEVNSEEYGSDHETGSSGSSDEQGNNTENEEEGVEEDVEEDEEVEEDAEED
                     EEVDEDGEEEEEEEEEEEEEEEEEEEEYEQDERDQKEEGNDYDTRSEASDSGSESVSFT
                     DGSVRSGSGTDGSDEKKKERKRARGISPIVFDRSGSSASESYAGSEKKHEKLSSSVRAV
                     RKDQTSKLKYVLQDARFFLIKSNNHENVSLAKAKGVWSTLPVNEKKLNLAFRSARSVIL
                     IFSVRESGKFQGFARLSSESHHGGSPIHWVLPAGMSAKMLGGVFKIDWICRRELPFTKS
                     AHLTNPWNEHKPVKIGRDGQEIELECGTQLCLLFPPDESIDLYQVIHKMRHKRRMHSQP
                     RSRGRPSRREPVRDVGRRRPEDYDIHNSRKKPRIDYPPEFHQRPGYLKDPRYQEVDRRF
                     SGVRRDVFLNGSYNDYVREFHNMGPPPPWQGMPPYPGMEQPPHHPYYQHHAPPPQAHPP
                     YSGHHPVPHEARYRDKRVHDYDMRVDDFLRRTQAVVSGRRSRPRERDRERERDRPRDNR
                     RDRERDRGRDRERERERLCDRDRDRGERGRYRR"
     misc_feature    338..1351
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MU7.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    440..442
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9QY02; propagated from
                     UniProtKB/Swiss-Prot (Q96MU7.3); phosphorylation site"
     misc_feature    689..691
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96MU7.3); phosphorylation site"
     misc_feature    695..697
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96MU7.3); phosphorylation site"
     misc_feature    773..775
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96MU7.3); phosphorylation site"
     misc_feature    779..781
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96MU7.3); phosphorylation site"
     misc_feature    1259..1261
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q96MU7.3);
                     phosphorylation site"
     misc_feature    1280..1282
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96MU7.3); phosphorylation site"
     misc_feature    1286..1288
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96MU7.3); phosphorylation site"
     misc_feature    1289..1291
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96MU7.3); phosphorylation site"
     misc_feature    1295..1297
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96MU7.3); phosphorylation site"
     misc_feature    1607..1609
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q96MU7.3);
                     phosphorylation site"
     misc_feature    1640..1642
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q96MU7.3); phosphorylation site"
     misc_feature    1859..2029
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MU7.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1970..1972
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96MU7.3); phosphorylation site"
     misc_feature    2156..2266
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MU7.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2342..2518
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96MU7.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3276..3281
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="hexamer: AATAAA"
     polyA_site      3301
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="major polyA site"
     regulatory      3637..3642
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="hexamer: CATAAA"
     polyA_site      3658
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
     regulatory      4299..4304
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="hexamer: AATAAA"
     polyA_site      4325
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
     regulatory      4976..4981
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="hexamer: AATAAA"
     polyA_site      5005
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
     regulatory      6212..6217
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
                     /note="hexamer: ATTAAA"
     polyA_site      6233
                     /gene="YTHDC1"
                     /gene_synonym="YT521; YT521-B"
ORIGIN
        1 atttcgggag cgggattgtt tcgcgcagga agcaggctcc attttagcgc cgcccgccgt
       61 cgccatctgt ttcccttccc tcccccatac ctagcccgag tctgagccct aacgagaagg
      121 ctgggcctag gccgctggat gctggagtga aaggaaggga gaaagggaaa aagcgggaag
      181 agtcgagaag gctgagtgtt aagaggccaa gtgcgacgcg cgtatccggg cagacggact
      241 gacggacggg cccgtgcttc tgccgcggct gcggcgcccg cgcgagtcgc gtctaagcgg
      301 cggcggcggt ggcagcggcg gaaaccgaag gggagccatg gcggctgaca gtcgggagga
      361 gaaagatgga gaacttaatg ttctggatga tattttaact gaagtaccag aacaagatga
      421 tgaactgtat aatccagaga gtgaacaaga taaaaatgag aaaaagggat caaaaagaaa
      481 aagtgatcga atggaatcta ctgataccaa acgacaaaag ccttctgtcc attctagaca
      541 actggtttct aagccactga gctcatctgt tagcaataac aaaagaatag ttagtacaaa
      601 aggaaagtca gccacagagt ataaaaatga ggaatatcaa agatctgaaa gaaacaagcg
      661 tctagatgct gatcggaaaa ttcgtctatc aagtagtgcc tccagagaac cttataagaa
      721 tcaacctgaa aaaacctgtg tccggaaaag ggatcctgaa aggagggcca aatctcctac
      781 gccagatggt tctgagagaa ttgggcttga agtggataga cgtgcaagca gatccagcca
      841 gtcttctaag gaagaagtga actctgaaga atatggctct gaccatgaga ctggcagcag
      901 tggttcttct gatgagcaag ggaacaacac tgagaatgag gaggaaggag tggaagaaga
      961 tgtggaggaa gatgaagaag tagaagaaga tgcagaagaa gatgaagagg tggatgaaga
     1021 tggagaggag gaggaggaag aggaggagga ggaagaggag gaggaggagg aggaagaaga
     1081 agaatatgaa caggatgaga gagaccagaa agaggaggga aatgattatg acactcgaag
     1141 tgaggccagt gactctggtt ctgaatctgt ttccttcaca gatgggtctg tcagatctgg
     1201 ttcaggcaca gatggatcag atgagaaaaa gaaggaaagg aagagagcta gaggcatatc
     1261 tccaattgtt tttgatagaa gtggaagctc tgcatcagag tcatatgcag gttcagaaaa
     1321 gaagcatgag aaattatcat cttccgttcg tgctgtccga aaagatcaaa ccagtaaact
     1381 caaatatgtg cttcaagatg caagattttt cctcataaag agtaacaacc atgagaatgt
     1441 gtctcttgcc aaagcgaagg gtgtatggtc cacgctccct gtaaatgaga agaaattaaa
     1501 tcttgcattt agatctgcaa ggagtgttat cttaatattt tctgtcagag agagtggaaa
     1561 atttcaaggg tttgcaagac tttcttcaga atcacatcac ggaggatctc ctatacactg
     1621 ggtgcttcca gcaggaatga gtgctaaaat gctgggaggt gtctttaaaa ttgactggat
     1681 ttgcaggcgt gaattaccct tcactaagtc ggctcatctc accaatcctt ggaatgaaca
     1741 taaaccagta aagatcggac gtgatggaca ggaaattgaa cttgaatgtg gaacccagct
     1801 ttgtcttctg tttccccccg atgaaagtat tgacttgtat caggtcattc ataaaatgcg
     1861 tcacaagaga agaatgcatt ctcagccccg atcacgagga cgtccatccc gtcgagaacc
     1921 agtccgggat gtgggaaggc gtcgaccaga agattatgat attcataaca gcagaaagaa
     1981 accaaggatt gactatcccc ctgagtttca ccagagacca gggtatttaa aggatccacg
     2041 ataccaggaa gtggacagac gattttcagg agttcgccga gatgtgtttt taaatgggtc
     2101 ctacaatgat tatgtgaggg aatttcataa catgggacca ccaccacctt ggcaaggaat
     2161 gcccccttac ccaggaatgg aacaacctcc acaccatcct tactatcagc accatgctcc
     2221 acctcctcaa gctcatcccc cttactcagg acatcatcca gtaccacatg aagcaagata
     2281 cagagataaa cgagtacatg attatgatat gagggtggat gatttccttc gtcgcacaca
     2341 agctgttgtc agtggccgga gaagtagacc ccgtgaaaga gaccgggaac gagagcgaga
     2401 ccgccctaga gataacagac gagacagaga gcgagataga ggacgtgata gagaaagaga
     2461 aagagagcga ttatgtgatc gagacagaga ccgaggggag agaggtcgat atagaagata
     2521 atgggctttt ggaagcactg attgtttaaa gatacaaaaa atcttgtatt ttttttttgt
     2581 gtgtgtttac aagtagtaaa tttattttca gctgtctgcc tatgaagttc attgtgtaga
     2641 aggatttatt atgaccccct ttgttccaag catgcagtat cataagaact ggaaaaactc
     2701 aaatccgcca aaaatccaca gctgacagtt gaattgacac ttttattggg gcagaatgga
     2761 acagtccaag aatgtagata ctgattcttt ctccataaat gttcttatag tgtgttcatc
     2821 ctagagttat ttttttgttt gtttttttcc tttttggatc ttgattgata actgccatga
     2881 tattttgctt tgatgtgttt ctacatgtag ttgcacacgg ttcagtaaaa ataatgctgc
     2941 tatcgagtat gcaaatattg aagtatgatg gtttgactgt atggcagtgt tgtagcagcc
     3001 tcttgttttt ttccccattg cctctttttt taaaaaactt ataaagtcac tttttatttt
     3061 tcctcagtct tcaatgacga gagcaatatt aagaagacat tgctatctaa tttttaatct
     3121 ttttaaatga aaaattccta tgttcagtag cgtggttgat gctattgttt agccttcccc
     3181 tccaaattgt atacattggc ttggaatgtt cacaacttgc gtgcgtggca gcggaagacg
     3241 attcccatat tctacattgc tactgttttg tataaaataa attggtaaag attgacggtt
     3301 atcttttgta tctttttctt atccaattgc aggtttgttt tattatgcaa taatggacat
     3361 aaaagcatgc tttttgttca ggaattttag gaaccccatt tgcttttttt gaggcacact
     3421 ttagcagaaa tgattgacct aggcctgttg cattaaaagc ttacttctat ttctaacata
     3481 agatacacag agttatgtta ataatttggt taagtattta tacacctgat aacattttga
     3541 gtctactctg atcacagaat cgtttattta ggttttctat ttgttgtttt agtcttctgt
     3601 aagtgaacga ctttgtacat gctttctact ttacttcata aatggacttt taaccctctt
     3661 gtattagttc tgtattttaa gttaactgtc cagttctccc agtggtaacc aactataaca
     3721 tagaaataga gccgctcaag aaaacagttt atgaaataat ttttttgaat tttttcttga
     3781 gttacacctg gagttttggc ctttggaatt tggcctttat aaacattagg aatatttgaa
     3841 tgtttgattt ttttatagta tcaacagttg tactgtgtac cagatcacat agtacagttt
     3901 tacatttaat ctatattggc ctgaaaagaa caacacaggc actttactct taaaggatat
     3961 aataaactat agttatactg cattcatatt cataccagca tgtagtatct ttccctgcat
     4021 tcacagaagt tttatttaca atgacaaaac taaagcctga ggatttgttt taaatctgca
     4081 ttgtggtaga gaggaaaaag tacttttaag gaaacctggg ttctagtttt gtcattgtct
     4141 ttaattaaac cggttagtga tacatggtaa gtcacttcat tggcattttg tgtattcatc
     4201 agtaagctag acaagatgat agctacagtt taagaatttc tgtaaccatt atacaaaact
     4261 ggtaggtaat attaaaggta ttttcctgaa ataataggaa taaatactga gcactttgta
     4321 tgcaatagag actttgtgct tttatataca gactcattta aatgggctca gagaggctag
     4381 taaacttgcc caagattaga aaggtagtaa ttgatgggcc aagattttac ccatgttttt
     4441 atttggtgtt tctaaaccac ctcatcactt ttgaaaaaac agtatataaa ttaataaatg
     4501 ttttggagat ggagtctgtc gcccaggtgg agggcagtgg catgatcttg gctcactgca
     4561 acctcctgcc tcagcctccc gaatggctgg gactacaggc acccaccacc acaccccgct
     4621 aatttttgta attttagtag agatggggtt ccaacatgtt ggccaggctg gtctcaaact
     4681 cgacctcaag tgacctcacc tgcctcagcc tcctaaagtg ttgggattac aggcgtgagc
     4741 cactgcacct ggcctgagat ttttaaacat taacatttcc ttcaggctta agcagaggat
     4801 ttttctaaag tgccatccaa ttagatgtta agttatgctt tgtatgttga gcttagtatt
     4861 gagtcgatct attttaaaaa gccaacatta agtttttacc aagtatctgg cactattcta
     4921 aacaattctg ttggctcaca taatcatcac tgttttctcc tttcctaatt tttaaaataa
     4981 acttaccgga acattgtata aaaaatgcaa gatttttttc tgtacagaag agtcagtata
     5041 taaaaatcag tatgttttat ttaatattcg tacacatgac agcttttgtc actgtgagaa
     5101 gacatggttt ctttcgtgta ctccactgtg ctgtgattct aacaatctac attagtatga
     5161 tgtgttcaga tgaaaaacag aaaattcagt cattccgagt ttagaaatcc ggtcagggat
     5221 tttattggct ggagtaatag ttcaaaggag tgaaaattca agcatgtaat ttttggattt
     5281 gatttcctcc ataatgattt cctccataat ggcttttttt caagcatggt ctaatttttc
     5341 agaaaatggc cattatctcc aagcttccat tgtccatgta gtttcagtgg caggagagag
     5401 actattttcc tcccagtgtc catgtcagtt ccccaaaagg actgaatagc catgttggtt
     5461 ttggagccag ccgtaatcca atctgtattt ccaaggaaat ggggttcttt gtctcccagc
     5521 attgggaagc aagagaggca catgttatgg tcacctctgt gaggattaca tcaggaagga
     5581 cagtctccaa aagacatgga cagaggaaat ttagcagatg tccattaaat caggatctca
     5641 tacaagttat aacacctgaa tgtttgactt ttcagagtat tttgccatca caggtgtggc
     5701 atcttgccct tggatatatc tacattctgc tgtagaatgt cgtggtcttt ctgagggtca
     5761 catacatcct gtcttgtcat aatgttaacc attaagagtc ctcaggggca tggaattgaa
     5821 gaaggaactg ttgccagcag ttaactgacc aagctagagt tccctgaccc aacgtaaggg
     5881 tgactgtgac acacatggat aattttagct tcatgtttaa gattttgtta tttgggtagg
     5941 aaacattcca aatgcagttt gaaacacata ttaaaattga ggcacacagg aaagaactgg
     6001 ctcaagttta gtccccaagt tccttatagt aggaatagga atccttagag tataagcaat
     6061 ccatgcatag tattctgtta tctatcatgt agatcattta atctctaatt ttttggggtg
     6121 gggattctct tgtttctaaa tcttacactt tcagtttctt ctgtgtctta aatatagatt
     6181 attgactatt gtcttaaata ctaataaata cattaaatgt atcttaaata cta
//
LOCUS       NM_001031738            1553 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens transmembrane protein 150A (TMEM150A), transcript
            variant 1, mRNA.
ACCESSION   NM_001031738
VERSION     NM_001031738.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1553)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1553)
  AUTHORS   Hong GS, Lee B, Wee J, Chun H, Kim H, Jung J, Cha JY, Riew TR, Kim
            GH, Kim IB and Oh U.
  TITLE     Tentonin 3/TMEM150c Confers Distinct Mechanosensitive Currents in
            Dorsal-Root Ganglion Neurons with Proprioceptive Function
  JOURNAL   Neuron 91 (1), 107-118 (2016)
   PUBMED   27321926
REFERENCE   3  (bases 1 to 1553)
  AUTHORS   Chung J, Nakatsu F, Baskin JM and De Camilli P.
  TITLE     Plasticity of PI4KIIIalpha interactions at the plasma membrane
  JOURNAL   EMBO Rep 16 (3), 312-320 (2015)
   PUBMED   25608530
  REMARK    GeneRIF: TMEM150A is a functional homologue of Sfk1 in mammalian
            cells and plays a role in the homeostatic regulation of PI(4,5)P2 at
            the plasma membrane.
REFERENCE   4  (bases 1 to 1553)
  AUTHORS   Zhang J, D'Ercole AJ and Underwood LE.
  TITLE     Identification of a new gene (rat TM6P1) encoding a
            fasting-inducible, integral membrane protein with six transmembrane
            domains
  JOURNAL   Biochim Biophys Acta 1492 (1), 280-284 (2000)
   PUBMED   10858565
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.723105.1,
            SRR3476690.955077.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2159368
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000334462.10/ ENSP00000334708.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA434376.1, BC050466.1 and AW009533.1.
            On Nov 22, 2018 this sequence version replaced NM_001031738.2.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1553
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..1553
                     /gene="TMEM150A"
                     /gene_synonym="TM6P1; TMEM150; TTN1"
                     /note="transmembrane protein 150A"
                     /db_xref="GeneID:129303"
                     /db_xref="HGNC:HGNC:24677"
                     /db_xref="MIM:616757"
     misc_feature    104..106
                     /gene="TMEM150A"
                     /gene_synonym="TM6P1; TMEM150; TTN1"
                     /note="upstream in-frame stop codon"
     CDS             209..1024
                     /gene="TMEM150A"
                     /gene_synonym="TM6P1; TMEM150; TTN1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transmembrane protein 150; fasting-inducible integral
                     membrane protein TM6P1; tentonin 1"
                     /codon_start=1
                     /product="transmembrane protein 150A isoform 1"
                     /protein_id="NP_001026908.1"
                     /db_xref="CCDS:CCDS33233.1"
                     /db_xref="GeneID:129303"
                     /db_xref="HGNC:HGNC:24677"
                     /db_xref="MIM:616757"
                     /translation="MTAWILLPVSLSAFSITGIWTVYAMAVMNHHVCPVENWSYNESCP
                     PDPAEQGGPKTCCTLDDVPLISKCGSYPPESCLFSLIGNMGAFMVALICLLRYGQLLEQ
                     SRHSWVNTTALITGCTNAAGLLVVGNFQVDHARSLHYVGAGVAFPAGLLFVCLHCALSY
                     QGATAPLDLAVAYLRSVLAVIAFITLVLSGVFFVHESSQLQHGAALCEWVCVIDILIFY
                     GTFSYEFGAVSSDTLVAALQPTPGRACKSSGSSSTSTHLNCAPESIAMI"
     misc_feature    215..277
                     /gene="TMEM150A"
                     /gene_synonym="TM6P1; TMEM150; TTN1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TG1.1);
                     transmembrane region"
     misc_feature    317..319
                     /gene="TMEM150A"
                     /gene_synonym="TM6P1; TMEM150; TTN1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q86TG1.1); glycosylation site"
     misc_feature    329..331
                     /gene="TMEM150A"
                     /gene_synonym="TM6P1; TMEM150; TTN1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q86TG1.1); glycosylation site"
     misc_feature    434..496
                     /gene="TMEM150A"
                     /gene_synonym="TM6P1; TMEM150; TTN1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TG1.1);
                     transmembrane region"
     misc_feature    533..595
                     /gene="TMEM150A"
                     /gene_synonym="TM6P1; TMEM150; TTN1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TG1.1);
                     transmembrane region"
     misc_feature    629..691
                     /gene="TMEM150A"
                     /gene_synonym="TM6P1; TMEM150; TTN1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TG1.1);
                     transmembrane region"
     misc_feature    743..805
                     /gene="TMEM150A"
                     /gene_synonym="TM6P1; TMEM150; TTN1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TG1.1);
                     transmembrane region"
     misc_feature    842..904
                     /gene="TMEM150A"
                     /gene_synonym="TM6P1; TMEM150; TTN1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TG1.1);
                     transmembrane region"
     regulatory      1532..1537
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM150A"
                     /gene_synonym="TM6P1; TMEM150; TTN1"
                     /note="hexamer: ATTAAA"
     polyA_site      1553
                     /gene="TMEM150A"
                     /gene_synonym="TM6P1; TMEM150; TTN1"
                     /note="major polyA site"
ORIGIN
        1 aaacctttca gggctgctcc gagggccgca gctagagtcg gcgccacgag ggggccgagc
       61 agggtgcggc ggcggcgggg cgctccgggg aggccaggac agctgatggt tgtggcagaa
      121 acatctcaag gtagctggtc cgcccccact tccccatcta cctcttgtcc tccccccaac
      181 accaccacca ccctggctcc cctccctcat gaccgcctgg atcctcctgc ctgtcagcct
      241 gtcagcgttc tccatcactg gcatatggac tgtgtatgcc atggctgtga tgaaccacca
      301 tgtatgccct gtggagaact ggtcctacaa cgagtcctgc cctcctgacc ctgctgagca
      361 agggggtccc aagacctgct gcaccctgga cgatgtcccc ctcatcagca agtgtggctc
      421 ctatccccca gaaagctgcc tcttcagcct cattggcaac atgggtgctt tcatggtggc
      481 cctgatctgc ctcctgcgct acgggcagct cctggagcag agtcggcact cttgggttaa
      541 caccacggca ctcatcacag gctgcaccaa cgctgcgggc ctcttggtgg ttggcaactt
      601 tcaggtggat catgccaggt ctctgcacta cgttggagct ggcgtggcct tccctgcggg
      661 gctgctcttt gtttgcctgc actgtgctct ctcctaccaa ggggccaccg ccccgctgga
      721 cctggctgtg gcctatctgc gaagtgtgct ggctgtcatc gcctttatca ccctggtcct
      781 cagtggagtc ttctttgtcc atgagagttc tcagctgcaa catggggcag ccctgtgtga
      841 gtgggtgtgt gtcatcgata tcctcatttt ctatggcacc ttcagctacg agtttggggc
      901 agtctcctca gacacactgg tggctgcact gcagcctacc cctggccggg cctgcaagtc
      961 ctccgggagc agcagcacct ccacccacct caactgtgcc cccgagagca tcgctatgat
     1021 ctaaggtctg gggagggtgg ctggcccggc ctccacagca ccccacccca tatcttcttt
     1081 ccatttattt cgtaccaaaa acaattttga gaaagtattc tgttgggatc tgggcttcct
     1141 cacttctgga gaagtggcca tcccatgccc acctgtgcca tggaggagtg ggccctgcca
     1201 gctgccacag ctgcatgacc tgcttcccca ccccacggtg tcgttttgtt tttaaaggtc
     1261 acctgtcctc actcacccag ccagcccttc aggtgccttc tactcccagt gccaaagcca
     1321 gaccactggg gtttcctgct gcaggaattg ggggctggga acagcagagg ggatagaagt
     1381 ctggtggagg tggagtgggc acgccttagc ctacggaaag gcccatttct gggcccactg
     1441 agctgcactg ggattcttca ctctgcccct cacttccttt agggcaaata acacagcaga
     1501 accacgtggg tattttagta ctttttttta tattaaaaga attctaattt gca
//
LOCUS       NM_001031739            1613 bp    mRNA    linear   PRI 12-FEB-2023
DEFINITION  Homo sapiens ankyrin repeat and SOCS box containing 9 (ASB9),
            transcript variant 1, mRNA.
ACCESSION   NM_001031739
VERSION     NM_001031739.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1613)
  AUTHORS   Li N, Zhou Q, Yi Z, Zhang H and Zhou D.
  TITLE     Ubiquitin protein E3 ligase ASB9 suppresses proliferation and
            promotes apoptosis in human spermatogonial stem cell line by
            inducing HIF1AN degradation
  JOURNAL   Biol Res 56 (1), 4 (2023)
   PUBMED   36683111
  REMARK    GeneRIF: Ubiquitin protein E3 ligase ASB9 suppresses proliferation
            and promotes apoptosis in human spermatogonial stem cell line by
            inducing HIF1AN degradation. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1613)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1613)
  AUTHORS   Lumpkin RJ, Baker RW, Leschziner AE and Komives EA.
  TITLE     Structure and dynamics of the ASB9 CUL-RING E3 Ligase
  JOURNAL   Nat Commun 11 (1), 2866 (2020)
   PUBMED   32513959
  REMARK    GeneRIF: Structure and dynamics of the ASB9 CUL-RING E3 Ligase.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1613)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1613)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1613)
  AUTHORS   Venkatesan K, Rual JF, Vazquez A, Stelzl U, Lemmens I,
            Hirozane-Kishikawa T, Hao T, Zenkner M, Xin X, Goh KI, Yildirim MA,
            Simonis N, Heinzmann K, Gebreab F, Sahalie JM, Cevik S, Simon C, de
            Smet AS, Dann E, Smolyar A, Vinayagam A, Yu H, Szeto D, Borick H,
            Dricot A, Klitgord N, Murray RR, Lin C, Lalowski M, Timm J, Rau K,
            Boone C, Braun P, Cusick ME, Roth FP, Hill DE, Tavernier J, Wanker
            EE, Barabasi AL and Vidal M.
  TITLE     An empirical framework for binary interactome mapping
  JOURNAL   Nat Methods 6 (1), 83-90 (2009)
   PUBMED   19060904
REFERENCE   7  (bases 1 to 1613)
  AUTHORS   Fei X, Zhang Y, Gu X, Qiu R, Mao Y and Ji C.
  TITLE     Crystallization and preliminary X-ray analysis of the splice variant
            of human ankyrin repeat and suppressor of cytokine signaling box
            protein 9 (hASB9-2)
  JOURNAL   Protein Pept Lett 15 (6), 647-649 (2008)
   PUBMED   18680464
  REMARK    GeneRIF: The splice variant of hASB9, hASB9-2 protein, was cloned,
            overexpressed, and crystallized and the data showed that the cubic
            hASB9-2 crystal belongs to space group P4(3)32 with unit-cell
            parameters.
REFERENCE   8  (bases 1 to 1613)
  AUTHORS   Debrincat MA, Zhang JG, Willson TA, Silke J, Connolly LM, Simpson
            RJ, Alexander WS, Nicola NA, Kile BT and Hilton DJ.
  TITLE     Ankyrin repeat and suppressors of cytokine signaling box protein
            asb-9 targets creatine kinase B for degradation
  JOURNAL   J Biol Chem 282 (7), 4728-4737 (2007)
   PUBMED   17148442
REFERENCE   9  (bases 1 to 1613)
  AUTHORS   Kohroki J, Nishiyama T, Nakamura T and Masuho Y.
  TITLE     ASB proteins interact with Cullin5 and Rbx2 to form E3 ubiquitin
            ligase complexes
  JOURNAL   FEBS Lett 579 (30), 6796-6802 (2005)
   PUBMED   16325183
REFERENCE   10  (bases 1 to 1613)
  AUTHORS   Kile BT, Schulman BA, Alexander WS, Nicola NA, Martin HM and Hilton
            DJ.
  TITLE     The SOCS box: a tale of destruction and degradation
  JOURNAL   Trends Biochem Sci 27 (5), 235-241 (2002)
   PUBMED   12076535
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC013172.1, SRR5189658.107568.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380488.9/ ENSP00000369855.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA943920.1, BC013172.1 and
            BC001244.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001031739.2.
            Summary: This gene encodes a member of the ankyrin repeat and
            suppressor of cytokine signaling (SOCS) box protein family. Members
            of this family can interact with the elongin B-C adapter complex
            via their SOCS box domain and further complex with the cullin and
            ring box proteins to form E3 ubiquitin ligase complexes. They may
            function to mediate the substrate-recognition of the E3 ubiquitin
            ligases. A transcribed pseudogene of this gene has been identified
            on chromosome 15. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Dec
            2009].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1613
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..1613
                     /gene="ASB9"
                     /note="ankyrin repeat and SOCS box containing 9"
                     /db_xref="GeneID:140462"
                     /db_xref="HGNC:HGNC:17184"
                     /db_xref="MIM:300890"
     misc_feature    81..83
                     /gene="ASB9"
                     /note="upstream in-frame stop codon"
     CDS             210..1094
                     /gene="ASB9"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ankyrin repeat and SOCS box protein 9; ankyrin repeat and
                     suppressor of cytokine signaling box protein 9; ASB-9;
                     testis tissue sperm-binding protein Li 57p"
                     /codon_start=1
                     /product="ankyrin repeat and SOCS box protein 9 isoform 1"
                     /protein_id="NP_001026909.1"
                     /db_xref="CCDS:CCDS35208.1"
                     /db_xref="GeneID:140462"
                     /db_xref="HGNC:HGNC:17184"
                     /db_xref="MIM:300890"
                     /translation="MDGKQGGMDGSKPAGPRDFPGIRLLSNPLMGDAVSDWSPMHEAAI
                     HGHQLSLRNLISQGWAVNIITADHVSPLHEACLGGHLSCVKILLKHGAQVNGVTADWHT
                     PLFNACVSGSWDCVNLLLQHGASVQPESDLASPIHEAARRGHVECVNSLIAYGGNIDHK
                     ISHLGTPLYLACENQQRACVKKLLESGADVNQGKGQDSPLHAVARTASEELACLLMDFG
                     ADTQAKNAEGKRPVELVPPESPLAQLFLEREGPPSLMQLCRLRIRKCFGIQQHHKITKL
                     VLPEDLKQFLLHL"
     misc_feature    210..212
                     /gene="ASB9"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q96DX5.1); acetylation site"
     misc_feature    312..401
                     /gene="ASB9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96DX5.1);
                     Region: ANK 1"
     misc_feature    360..362
                     /gene="ASB9"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96DX5.1); phosphorylation site"
     misc_feature    411..500
                     /gene="ASB9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96DX5.1);
                     Region: ANK 2"
     misc_feature    510..599
                     /gene="ASB9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96DX5.1);
                     Region: ANK 3"
     misc_feature    516..518
                     /gene="ASB9"
                     /note="Essential for binding to CKB; propagated from
                     UniProtKB/Swiss-Prot (Q96DX5.1); other site"
     misc_feature    528..530
                     /gene="ASB9"
                     /note="Essential for binding to CKB; propagated from
                     UniProtKB/Swiss-Prot (Q96DX5.1); other site"
     misc_feature    606..695
                     /gene="ASB9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96DX5.1);
                     Region: ANK 4"
     misc_feature    705..794
                     /gene="ASB9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96DX5.1);
                     Region: ANK 5"
     misc_feature    801..890
                     /gene="ASB9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96DX5.1);
                     Region: ANK 6"
     regulatory      1583..1588
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASB9"
                     /note="hexamer: AATAAA"
     regulatory      1587..1592
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASB9"
                     /note="hexamer: AAGAAA"
     polyA_site      1610
                     /gene="ASB9"
     polyA_site      1613
                     /gene="ASB9"
                     /note="major polyA site"
ORIGIN
        1 gtacacgagc gcatgcctct ctctgatcac aggtagcact cagattaccc tgcctgctct
       61 gtgctttgct gcagaccatt tgaccagaac gtgtgcagct cagccagcca cagaactgga
      121 atttttcagg agcaggggga gcatggagtt tggactttgc tgagcaactg aagtggagcg
      181 cagagcttgc tcgcttagga gagagcatca tggatggcaa acaagggggc atggatggga
      241 gcaagcccgc ggggccaagg gactttcctg gcatcaggct tctttcaaac ccattgatgg
      301 gcgatgctgt gtctgattgg tctcctatgc atgaagctgc aatccacgga catcagctgt
      361 ctctgaggaa cctcatcagc caggggtggg ctgtgaacat catcacggca gatcatgttt
      421 ccccactcca tgaagcctgt cttggaggtc atctctcttg tgtgaagatt ttattaaagc
      481 atggagctca ggtgaatggt gtgacagcag actggcacac tccactgttt aatgcttgtg
      541 tcagcggcag ctgggattgt gtgaatttgc ttctgcagca cggagccagc gttcaacctg
      601 agagtgatct ggcatccccc atccatgaag ctgctaggag aggccacgtg gagtgtgtca
      661 actctcttat agcttatggg ggcaacattg accataagat cagccacctg ggcactccac
      721 tctatttggc ttgtgaaaac caacagagag cctgtgtcaa gaagcttctg gagtcaggag
      781 cggacgtgaa ccaagggaaa ggtcaggatt ccccacttca tgcagtggcc aggacagcca
      841 gtgaagagct ggcctgcctg ctcatggatt ttggagcgga cacccaggcc aagaatgctg
      901 aaggcaaacg tcctgtggag ctggtgcctc cagagagccc cttggcccag ctcttcttgg
      961 agagagaagg gcccccttct ttgatgcagt tatgccgcct tagaattcgg aagtgttttg
     1021 gaatccagca gcatcataag ataaccaaac tcgtcctccc agaggatctg aaacagtttc
     1081 tcctacatct ttaaatgcat ctagggaatg gattcacaaa cgatgtgaaa acattattga
     1141 gtgttgtagc cactagaatt ttaaaatcaa gttggattta tagagtttga ctagtttttt
     1201 cgattagatt tgtatttgtt ataaacttgt ttatggagtt tgactaattt tttctattca
     1261 atttgtattt gttaaactca agccagggtt gaaagacact gcatacgttt gtattattag
     1321 ttagaaggca tgaagacttt tttccctgca tggagagtgt cataagttat tgttttgcat
     1381 atctactgca tgccaagcac tttctgcatc atctaattta gccctcacag ccactgggtc
     1441 aagatgtcca attttccaga gtaaggatag aggagtcaaa ttcaaataca ggttttctga
     1501 cattaactta tgtgatgact tgatcgaggc aggcttttcc agcatcactg tcctggttcc
     1561 atctctgcta tatgggaatg aaaataaaga aacatatttc ttggcttgtc taa
//
LOCUS       NM_001031743            2207 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens cilia and flagella associated protein 206 (CFAP206),
            mRNA.
ACCESSION   NM_001031743
VERSION     NM_001031743.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2207)
  AUTHORS   Shen Q, Martinez G, Liu H, Beurois J, Wu H, Amiri-Yekta A, Liang D,
            Kherraf ZE, Bidart M, Cazin C, Celse T, Satre V, Thierry-Mieg N,
            Whitfield M, Toure A, Song B, Lv M, Li K, Liu C, Tao F, He X, Zhang
            F, Arnoult C, Ray PF, Cao Y and Coutton C.
  TITLE     Bi-allelic truncating variants in CFAP206 cause male infertility in
            human and mouse
  JOURNAL   Hum Genet 140 (9), 1367-1377 (2021)
   PUBMED   34255152
  REMARK    GeneRIF: Bi-allelic truncating variants in CFAP206 cause male
            infertility in human and mouse.
REFERENCE   2  (bases 1 to 2207)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2207)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2207)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human genetic
            disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   5  (bases 1 to 2207)
  AUTHORS   Gupta A, Diener DR, Sivadas P, Rosenbaum JL and Yang P.
  TITLE     The versatile molecular complex component LC8 promotes several
            distinct steps of flagellar assembly
  JOURNAL   J Cell Biol 198 (1), 115-126 (2012)
   PUBMED   22753897
REFERENCE   6  (bases 1 to 2207)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   7  (bases 1 to 2207)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.389050.1,
            SRR1803617.108958.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369562.9/ ENSP00000358575.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL049697.9.
            On Nov 23, 2018 this sequence version replaced NM_001031743.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2207
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q15"
     gene            1..2207
                     /gene="CFAP206"
                     /gene_synonym="C6orf165; dJ382I10.1"
                     /note="cilia and flagella associated protein 206"
                     /db_xref="GeneID:154313"
                     /db_xref="HGNC:HGNC:21405"
     CDS             124..1992
                     /gene="CFAP206"
                     /gene_synonym="C6orf165; dJ382I10.1"
                     /note="UPF0704 protein C6orf165"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 206"
                     /protein_id="NP_001026913.1"
                     /db_xref="CCDS:CCDS34498.1"
                     /db_xref="GeneID:154313"
                     /db_xref="HGNC:HGNC:21405"
                     /translation="MPPTQAESVIRSIIREIGQECAAHGEIVSETLIAFMVKAVVLDPS
                     NGFNMDRTLMKSDVQNLVKLCMTRLLDTKNPSLDTIKMQVYFDMNYTNRVEFLEEHHRV
                     LESRLGSVTREITDNRACAKEELESLYRKIISYVLLRSGLGSPTDIKTVREVTAALQSV
                     FPQAELGTFLTLSKKDKERQLKELTMIVTGIRLFNRDCGKGGEGIDDLPAVLHVAIPAT
                     MQHIDYQLETARSQVYRYTAILEKAANDPLMRAELQPYMLKEALYNIRQYEVFLQIILS
                     DIITGAQEVEMMTKQLGAHLEQLKMTIKSKIAVPTSQVFPIFIALSTLWTSLQDETIVV
                     GVLSNLFTHIQPFLGAHELYFPERVMQCHLNGATVKTDVCRMKEHMEDRVNVADFRKLE
                     WLFPETTANFDKLLIQYRGFCAYTFAATDGLLLPGNPAIGILKYKEKYYTFNSKDAAYS
                     FAENPEHYIDIVREKAKKNTELIQLLELHQQFETFIPYSQMRDADKHYIKPITKCESST
                     QTNTHILPPTIVRSYEWNEWELRRKAIKLANLRQKVTHSVQTDLSHLRRENCSQVYPPK
                     DTSTQSMREDSTGVPRPQIYLAGLRGGKSEITDEVKVNLTRDVDET"
     misc_feature    1831..1899
                     /gene="CFAP206"
                     /gene_synonym="C6orf165; dJ382I10.1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYR0.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2183..2188
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP206"
                     /gene_synonym="C6orf165; dJ382I10.1"
                     /note="hexamer: AATAAA"
     polyA_site      2207
                     /gene="CFAP206"
                     /gene_synonym="C6orf165; dJ382I10.1"
                     /note="major polyA site"
ORIGIN
        1 cttccatctc catggttacg cggcggtggc tgcgagcgcc caactgctcc gaccgtcgcg
       61 gtgagggccc caggacagaa gcagacagac acggctcctg ctgtcgattc cgatccagcc
      121 agaatgcctc caactcaggc cgaaagtgtt ataaggagta ttatacgaga aataggacaa
      181 gaatgtgcag cccatggaga gattgtttct gaaactctga ttgcttttat ggtgaaagct
      241 gttgtcctgg atccaagtaa tggctttaac atggatagaa ccctcatgaa aagtgatgtg
      301 cagaatcttg ttaagctttg tatgactcgg ctattggata ctaaaaatcc atccctggac
      361 actattaaga tgcaagtcta cttcgatatg aattatacga atcgagtgga atttctcgaa
      421 gaacatcacc gggtcctaga gtctagatta ggctctgtta cccgagaaat tacagataac
      481 agagcatgtg ctaaagaaga attggaaagc ctctaccgga agattatcag ctatgtgtta
      541 ctccgctctg gccttggatc ccctacagac atcaagactg tcagagaggt aacagctgct
      601 ctacagagtg tttttcctca ggcagagctt gggacatttc taactctttc taagaaggac
      661 aaagaacgcc agctgaaaga actcaccatg attgttactg gaattcgttt atttaacaga
      721 gactgtggaa aaggaggaga aggcattgat gatttgccag ctgttctcca tgtagcaatc
      781 ccagccacca tgcagcatat tgattaccag cttgagactg cccggagcca ggtataccgc
      841 tacacagcca tccttgagaa ggcagccaac gacccactca tgagggctga acttcagcca
      901 tatatgttaa aagaagcgct atataatata cgacaatatg aggtcttcct tcagatcatt
      961 ttgtcagata taattactgg tgctcaagaa gtggaaatga tgacaaaaca gttaggagcc
     1021 catctggaac aactaaaaat gaccataaaa tcaaagatag cggtcccaac atcacaagtc
     1081 tttcctatct tcattgcact ttctactctg tggaccagct tgcaagacga aactattgtg
     1141 gttggtgtcc tcagtaattt attcactcac attcagccat tcttgggtgc tcacgaacta
     1201 tactttcctg agagagtgat gcaatgtcat cttaatggag cgactgtgaa aactgatgtg
     1261 tgtagaatga aagaacacat ggaagataga gtaaatgtgg cagatttcag aaaactagaa
     1321 tggcttttcc cagaaacaac agcaaatttt gataaactgt taattcaata tcggggattt
     1381 tgtgcttaca cgtttgctgc aacagatggt cttctccttc caggaaatcc agcaattgga
     1441 attttaaaat ataaagaaaa atattacaca ttcaatagta aagatgctgc atattcattt
     1501 gcagaaaatc ctgaacatta tattgacata gttagagaaa aggccaaaaa aaatacagag
     1561 ttaattcaac tattggaact tcatcaacag tttgaaacat ttattccata ttctcagatg
     1621 agagatgctg acaaacatta tataaaacca attacaaaat gtgaaagtag cacacagacg
     1681 aatacacaca tactgccacc aacgattgtg agatcatatg agtggaatga atgggaatta
     1741 agaagaaaag ctataaaatt ggctaatttg cgccagaaag ttactcactc agtacaaact
     1801 gatcttagtc acttgagaag agaaaattgt tcccaagtgt accctccaaa ggacactagc
     1861 acccagtcca tgagggaaga cagcactggg gtgcccaggc ctcagattta cttggctggt
     1921 cttcgtggag gaaagagcga aatcaccgat gaggtcaagg tgaacttaac tagagatgtg
     1981 gatgaaacct aattacagac aacgttttaa aatagatgct actcaattat gaacaatagc
     2041 aagtacttaa aggtatatta acatctatac aaattaattt tgtaggggtg gcacattcat
     2101 tggttgtgtg actgtttatt gggttcccat attttatcaa actgttttct gtaacacatt
     2161 tttcattctg ttgaaattga aaaataaaac tgtccattta tctttta
//
LOCUS       NM_001031745            1488 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens RIB43A domain with coiled-coils 1 (RIBC1), transcript
            variant 1, mRNA.
ACCESSION   NM_001031745
VERSION     NM_001031745.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1488)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1488)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1488)
  AUTHORS   Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C,
            Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville
            D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE,
            Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR,
            Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D,
            Field M, Hackett A, Marynen P, Turner G and Gecz J.
  TITLE     Submicroscopic duplications of the hydroxysteroid dehydrogenase
            HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with
            mental retardation
  JOURNAL   Am J Hum Genet 82 (2), 432-443 (2008)
   PUBMED   18252223
REFERENCE   4  (bases 1 to 1488)
  AUTHORS   Sogayar MC, Camargo AA, Bettoni F, Carraro DM, Pires LC, Parmigiani
            RB, Ferreira EN, de Sa Moreira E, do Rosario D de O Latorre M,
            Simpson AJ, Cruz LO, Degaki TL, Festa F, Massirer KB, Sogayar MC,
            Filho FC, Camargo LP, Cunha MA, De Souza SJ, Faria M Jr, Giuliatti
            S, Kopp L, de Oliveira PS, Paiva PB, Pereira AA, Pinheiro DG, Puga
            RD, S de Souza JE, Albuquerque DM, Andrade LE, Baia GS, Briones MR,
            Cavaleiro-Luna AM, Cerutti JM, Costa FF, Costanzi-Strauss E,
            Espreafico EM, Ferrasi AC, Ferro ES, Fortes MA, Furchi JR,
            Giannella-Neto D, Goldman GH, Goldman MH, Gruber A, Guimaraes GS,
            Hackel C, Henrique-Silva F, Kimura ET, Leoni SG, Macedo C, Malnic B,
            Manzini B CV, Marie SK, Martinez-Rossi NM, Menossi M, Miracca EC,
            Nagai MA, Nobrega FG, Nobrega MP, Oba-Shinjo SM, Oliveira MK,
            Orabona GM, Otsuka AY, Paco-Larson ML, Paixao BM, Pandolfi JR,
            Pardini MI, Passos Bueno MR, Passos GA, Pesquero JB, Pessoa JG,
            Rahal P, Rainho CA, Reis CP, Ricca TI, Rodrigues V, Rogatto SR,
            Romano CM, Romeiro JG, Rossi A, Sa RG, Sales MM, Sant'Anna SC,
            Santarosa PL, Segato F, Silva WA Jr, Silva ID, Silva NP,
            Soares-Costa A, Sonati MF, Strauss BE, Tajara EH, Valentini SR,
            Villanova FE, Ward LS and Zanette DL.
  CONSRTM   Ludwig-FAPESP Transcript Finishing Initiative
  TITLE     A transcript finishing initiative for closing gaps in the human
            transcriptome
  JOURNAL   Genome Res 14 (7), 1413-1423 (2004)
   PUBMED   15197164
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.161704.1,
            SRR5189667.145103.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375327.6/ ENSP00000364476.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK304179.1, BC036767.1, CA433728.1 and BF433577.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001031745.4.
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1488
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.22"
     gene            1..1488
                     /gene="RIBC1"
                     /gene_synonym="2610028I09Rik"
                     /note="RIB43A domain with coiled-coils 1"
                     /db_xref="GeneID:158787"
                     /db_xref="HGNC:HGNC:26537"
     misc_feature    186..188
                     /gene="RIBC1"
                     /gene_synonym="2610028I09Rik"
                     /note="upstream in-frame stop codon"
     CDS             222..1361
                     /gene="RIBC1"
                     /gene_synonym="2610028I09Rik"
                     /note="isoform 1 is encoded by transcript variant 1;
                     RIB43A-like with coiled-coils protein 1"
                     /codon_start=1
                     /product="RIB43A-like with coiled-coils protein 1 isoform
                     1"
                     /protein_id="NP_001026915.1"
                     /db_xref="CCDS:CCDS35299.1"
                     /db_xref="GeneID:158787"
                     /db_xref="HGNC:HGNC:26537"
                     /translation="MYNIKQSTDTKEAAAIEARRNREKERQNRFFNVRNRVMGVDVQAL
                     NNQVGDRKRREAAERSKEAAYGTSQVQYDVVVQMLEKEEADRTRQLAKKVQEFREQKQQ
                     LKNGREFSLWDPGQVWKGLPTYLSYSNTYPGPASLQYFSGEDLDRDTRLRMQQGQFRYN
                     LERQQQEQQQAKVDENYTDALSNQLRLAMDAQATHLARLEESCRAAMMCAMANANKAQA
                     AVQAGRQRCERQREQKANLAEIQHQSTSDLLTENPQVAQHPMAPYRVLPYCWKGMTPEQ
                     QAAIRKEQEVQRSKKQAHRQAEKTLDTEWKSQTMSSAQAVLELEEQERELCAVFQRGLG
                     SFNQQLANEQKAQQDYLNSVIYTNQPTAQYHQQFNTSSR"
     misc_feature    222..284
                     /gene="RIBC1"
                     /gene_synonym="2610028I09Rik"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N443.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1464..1469
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RIBC1"
                     /gene_synonym="2610028I09Rik"
                     /note="hexamer: AATAAA"
     polyA_site      1488
                     /gene="RIBC1"
                     /gene_synonym="2610028I09Rik"
                     /note="major polyA site"
ORIGIN
        1 agatccccgg aggagttgtt gctgggcgga gtcagagcag ttcttgaggt tcaaggaggc
       61 gggggagacc tgagctcacg cttgctgaga cagaagtcac agcaggatta tgcccctcag
      121 ggcaagagga agagttcaga aactgccgcc gtaacccaag aacaaagttg catgcagagc
      181 caacctaaga gcttcaaaat cgggattcct tactgagaaa gatgtataac ataaaacagt
      241 caacagatac caaggaagca gcagccatcg aggctagaag aaatcgagaa aaagagcgac
      301 aaaaccgatt cttcaatgtg cggaaccgag tcatgggggt ggatgtccag gccctgaaca
      361 accaggtggg agaccgaaag cgtcgggaag cagcagaaag aagcaaggag gcagcttatg
      421 gtaccagcca ggtgcagtat gatgtggtag tccagatgtt agagaaggaa gaggcagatc
      481 gaacacgtca gctggccaag aaagtccagg agtttcggga gcagaagcag cagctcaaga
      541 acgggcgtga atttagtctt tgggatccag gccaagtctg gaaggggctt ccaacctatc
      601 ttagttacag taatacctat cctggtccag ccagcctgca gtacttctct ggggaagacc
      661 tagacaggga cacacggctg agaatgcagc aggggcagtt caggtacaac ttggaaaggc
      721 aacagcagga gcaacagcaa gccaaggttg atgagaatta tacagatgcg ctcagtaacc
      781 agctgcgcct cgccatggat gcacaggcca cccatctggc caggctggag gagtcctgtc
      841 gtgcggccat gatgtgtgcc atggccaacg ccaacaaagc gcaggcagct gtgcaggctg
      901 ggcgtcagcg ctgtgagcgt cagcgtgaac agaaggccaa ccttgcggag atccagcacc
      961 agagcacgag tgacctactg actgaaaacc cccaggtcgc ccaacaccct atggctccct
     1021 accgggtcct gccctattgc tggaagggca tgactccaga gcagcaagct gccatcagga
     1081 aagagcagga agtacaacgc tctaagaagc aagcacaccg tcaggctgag aaaacactgg
     1141 atactgaatg gaaaagccag accatgagct cagcccaggc agtgctggag ctagaagagc
     1201 aggagaggga attgtgtgct gtatttcaaa ggggtctagg atccttcaac cagcagctgg
     1261 ctaatgagca aaaagcccag caggattacc tgaattcagt aatctacacc aatcaaccta
     1321 cagcccagta tcaccagcag tttaacacca gcagccgcta agttcaggat gtctatctct
     1381 ctctcccttc tcctccatca agctcacagg tggttaggag tcaaagagaa aaatgctgca
     1441 tactcccacc ttctaaccta ggtaataaag ttctgcactc aaaatcaa
//
LOCUS       NM_001031746            6414 bp    mRNA    linear   PRI 17-APR-2022
DEFINITION  Homo sapiens V-set and transmembrane domain containing 4 (VSTM4),
            transcript variant 1, mRNA.
ACCESSION   NM_001031746
VERSION     NM_001031746.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6414)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 6414)
  AUTHORS   Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G,
            Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U,
            McArdle WL, Quaye L, Koiranen M, Ikram MA, Lehtimaki T, Stam AH,
            Ligthart L, Wedenoja J, Dunham I, Neale BM, Palta P, Hamalainen E,
            Schurks M, Rose LM, Buring JE, Ridker PM, Steinberg S, Stefansson H,
            Jakobsson F, Lawlor DA, Evans DM, Ring SM, Farkkila M, Artto V,
            Kaunisto MA, Freilinger T, Schoenen J, Frants RR, Pelzer N, Weller
            CM, Zielman R, Heath AC, Madden PAF, Montgomery GW, Martin NG, Borck
            G, Gobel H, Heinze A, Heinze-Kuhn K, Williams FMK, Hartikainen AL,
            Pouta A, van den Ende J, Uitterlinden AG, Hofman A, Amin N, Hottenga
            JJ, Vink JM, Heikkila K, Alexander M, Muller-Myhsok B, Schreiber S,
            Meitinger T, Wichmann HE, Aromaa A, Eriksson JG, Traynor B, Trabzuni
            D, Rossin E, Lage K, Jacobs SBR, Gibbs JR, Birney E, Kaprio J,
            Penninx BW, Boomsma DI, van Duijn C, Raitakari O, Jarvelin MR, Zwart
            JA, Cherkas L, Strachan DP, Kubisch C, Ferrari MD, van den
            Maagdenberg AMJM, Dichgans M, Wessman M, Smith GD, Stefansson K,
            Daly MJ, Nyholt DR, Chasman D and Palotie A.
  CONSRTM   North American Brain Expression Consortium; UK Brain Expression
            Consortium
  TITLE     Genome-wide meta-analysis identifies new susceptibility loci for
            migraine
  JOURNAL   Nat. Genet. 45 (8), 912-917 (2013)
   PUBMED   23793025
REFERENCE   3  (bases 1 to 6414)
  AUTHORS   Charles BA, Shriner D, Doumatey A, Chen G, Zhou J, Huang H, Herbert
            A, Gerry NP, Christman MF, Adeyemo A and Rotimi CN.
  TITLE     A genome-wide association study of serum uric acid in African
            Americans
  JOURNAL   BMC Med Genomics 4, 17 (2011)
   PUBMED   21294900
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6414)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS,
            Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer
            N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White
            TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC,
            Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am. J. Hum. Genet. 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.222611.1,
            SRR1803613.56143.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000332853.9/ ENSP00000331062.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY112498.1, AK297931.1, AK056299.1, BC041414.1, AC060234.11 and
            AW058485.1.
            On Nov 22, 2018 this sequence version replaced NM_001031746.4.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6414
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.23"
     gene            1..6414
                     /gene="VSTM4"
                     /gene_synonym="C10orf72"
                     /note="V-set and transmembrane domain containing 4"
                     /db_xref="GeneID:196740"
                     /db_xref="HGNC:HGNC:26470"
     CDS             38..1000
                     /gene="VSTM4"
                     /gene_synonym="C10orf72"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; V-set and transmembrane domain-containing protein 4"
                     /codon_start=1
                     /product="V-set and transmembrane domain-containing protein
                     4 isoform 1 precursor"
                     /protein_id="NP_001026916.2"
                     /db_xref="CCDS:CCDS31198.1"
                     /db_xref="GeneID:196740"
                     /db_xref="HGNC:HGNC:26470"
                     /translation="MRLLALAAAALLARAPAPEVCAALNVTVSPGPVVDYLEGENATLL
                     CHVSQKRRKDSLLAVRWFFAHSFDSQEALMVKMTKLRVVQYYGNFSRSAKRRRLRLLEE
                     QRGALYRLSVLTLQPSDQGHYVCRVQEISRHRNKWTAWSNGSSATEMRVISLKASEESS
                     FEKTKETWAFFEDLYVYAVLVCCVGILSILLFMLVIVWQSVFNKRKSRVRHYLVKCPQN
                     SSGETVTSVTSLAPLQPKKGKRQKEKPDIPPAVPAKAPIAPTFHKPKLLKPQRKVTLPK
                     IAEENLTYAELELIKPHRAAKGAPTSTVYAQILFEENKL"
     sig_peptide     38..103
                     /gene="VSTM4"
                     /gene_synonym="C10orf72"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    578..640
                     /gene="VSTM4"
                     /gene_synonym="C10orf72"
                     /note="transmembrane region"
     regulatory      6253..6258
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VSTM4"
                     /gene_synonym="C10orf72"
                     /note="hexamer: AATAAA"
     polyA_site      6283
                     /gene="VSTM4"
                     /gene_synonym="C10orf72"
                     /note="major polyA site"
     regulatory      6332..6337
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VSTM4"
                     /gene_synonym="C10orf72"
                     /note="hexamer: AATATA"
     polyA_site      6353
                     /gene="VSTM4"
                     /gene_synonym="C10orf72"
     regulatory      6394..6399
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VSTM4"
                     /gene_synonym="C10orf72"
                     /note="hexamer: ATTACA"
     polyA_site      6414
                     /gene="VSTM4"
                     /gene_synonym="C10orf72"
ORIGIN
        1 gctctcccgc gtcacagcgc cgggcggcgg cggggagatg cggctgctgg cactggcggc
       61 ggccgcgctg ctggcgcggg ctccggctcc ggaggtctgt gcggccctca atgtcactgt
      121 gtccccgggg cccgtggttg actacctgga gggggagaat gccactctcc tctgccacgt
      181 ctcccagaaa aggcggaagg acagcttgct ggccgtgcgc tggttctttg cacactcctt
      241 cgactcccag gaggccttga tggtgaagat gaccaagctc cgggtggtgc agtactatgg
      301 gaatttcagc cgcagcgcca aacggcggag gctgcgcctg ctggaggagc agcggggggc
      361 gctctacagg ctctccgtct tgacactgca gccctccgat caagggcatt acgtctgcag
      421 agtccaggaa atcagcaggc acaggaacaa gtggacggcc tggtccaatg gctcctcagc
      481 cacggaaatg agagtcattt ccctcaaagc ttctgaagag tcatcctttg agaaaacaaa
      541 agagacttgg gcattttttg aagatctcta tgtgtatgct gtcctcgtgt gctgcgtggg
      601 gatcctcagc attctgctct tcatgctggt catcgtctgg cagtctgtgt ttaacaagcg
      661 gaaatccaga gtgagacatt atttggtgaa atgccctcag aacagctcag gggagactgt
      721 cactagcgtg accagcttgg ccccactaca gcccaagaag ggcaagaggc agaaggagaa
      781 gcctgacatt cctcccgcag tccctgccaa agctccgata gcccccacgt tccataaacc
      841 gaagctgctg aaaccacaga gaaaagtcac gctgccaaag attgctgagg aaaacttaac
      901 ctatgccgaa ctggagctga tcaaacccca ccgggctgcc aaaggcgccc ccaccagcac
      961 tgtctacgcc cagatcctct tcgaggagaa caagctgtag tacagcgtcc acctccaagg
     1021 ttctatttaa tacctgccac ccagtgattt atgaagcctt ggagacaaag cccttatgtc
     1081 tgtattttca ctcatgcctt ctgagtggtg gggagcccct tttcagcagc attctgggtg
     1141 cctttgaaga ggtacaagcc tgctctcccc aaaagaatcg gggccacagc tcttgacaga
     1201 tctcccggga caagatgcgc ctgggtttga gccctgagcg taaggattct gatcctgaga
     1261 gcagccaagg agattttctg ctgagccaaa ccccttcaca tttttctcct ctttccccag
     1321 gttttcttta aaatcgtttt taaatcttaa ttttactctc tactcttcct gtatccacga
     1381 tacaagctca cagtatatag ctagaggaaa tgccattatg gacccaactg taagatggca
     1441 catatgttgg ttttccaagg atcagatggc attgccaggg ccacagccaa ctgctgattg
     1501 ccagcaccac ctgagatggc atctcttgtt ttaaatagat gcactaaccc tgaagattaa
     1561 ggccagaggg gcagactgac tagagaagta taaggtctgt ctctgaatgc catggtgccc
     1621 acctatgaga ccctgaggcc gcaggacaag aagaacacca ttctagaggg cttccagccc
     1681 tttcacaagg tggacctgta ctgatagaga aacacactct ctaagaagtg cttactcacc
     1741 cttttccaaa ggagcacagg tgttggccat cagaagacac actggagcgc atgggcctct
     1801 tcactgtgtg ccaagctcag tcacctctga ttcagcccct gaaggtgtct gctgccaggt
     1861 gccctcaggg taggagagtg ggaagtacac gccaagctgg aaagtgtgtt ctgaagaccc
     1921 tcctcttgcc aagtgccttg cccattgcaa ccttgtgtgt gaattctaat gggtttgaat
     1981 gggggtcagg gtgcatgggg aagttgctct gtggaccttt gggacacagg aatcttggac
     2041 ttactggcag gggatccatt ctgaaagcac catcctgtca actgtgttat tgaggacatt
     2101 tcttgatgtg agtatagtct gggtggctat ttactgccca ctatagaaat tgtttgacta
     2161 tgtagtggac catgtatata tgataaatta tctattttaa acacagctgg ggtatgagtt
     2221 gtgccctcta tatagctgtg tgaacttggc taaatttctt atcccctaat gacctcagac
     2281 tccatgtttg tgtaaagacg acttaacttc ccatagaatt cttgagggta aaatgggata
     2341 atgaatcttg ccagttctag aaactgtaaa ttgctacaca aatgctctgt gttgacattc
     2401 atgctaaagc cagtctgcat tttcaaaatg aaaatttctt cactatttaa ggctttcatt
     2461 gcaataactt taaaaaccaa atatttgtcc accaacttag ccctacagta atgttcccaa
     2521 agactcatga gagtttatgg tttattggaa agggtccaaa ttggaagcag atattgattt
     2581 tctgggagca aactggtctg cctttacaaa gtggaagttc accctctctg gataacacct
     2641 gtgtctcatt cctccctctc tgccagatct cgaaggcact gaataaacca tgcagctttt
     2701 gaggaagaaa gaaccatttg gaagaactca ctagaacttc tttgagcatc tctttgggag
     2761 gggaggatat atggttagca caccatttat ataataatta tcacagggat ttttaatttt
     2821 atcatggcag tgttctgaca gatgtatagt gttttgaggg cagaggatga tctcctaatt
     2881 tgcccaaaga gccttatggg tttgtggggc tctgggggtg ccaaatggga aggagagggg
     2941 gcacatgaaa aggaaatggc gggaagaggg caacaggcca gggggtaata tcttcccagg
     3001 ccccttaggc ctctacagaa cggaaatgaa cttcattcac ccccaaaccc acccacttaa
     3061 atccaaagag agcttagggt tattatgcat ggacaggaac acattctacc aagaacacat
     3121 gctcttaaga gctagtagct cccagttaga gtcaaaccag tcattgttat attatagatt
     3181 gaatccagcc tctttctccc aaactgtggt catcactgca tgaatccaca ctaaggtgtg
     3241 tgaatgggaa cctgcagatt atctcctcct actgaaaatg ctgcccaggg gaatcttgga
     3301 agctatggac agcatccagg cagagctggt cccactgtta tctccagaag caaatgccca
     3361 agctgtgctc agaactggaa gcaatggatg acttgtatca ggtgcttgtt tgagaggata
     3421 tattgacatt attgccatag taagcttaaa aaaatgtgcc cactcattca ttctttgtcc
     3481 atggaccact aatcatgcat tgtcatttcc aaagataagg ggaaacatat cacatatcat
     3541 tgaaatagaa attagggaaa gtttgtcaat ttgttttcac tataaggcat caatggcaga
     3601 aactacatat gagtaatttt caaaatagac cattgcttaa atgtttaaat gaagctaaaa
     3661 gaagtatgaa cccattggtt agagtgcagt ggcttctttc aggcagacag cagatgctct
     3721 cagatttggt ggtgagtttt ggccttggca tggttggcat ggagtcagca caggaagccg
     3781 ggaggtatga aggggcatcc acctgggtga aactgtcttg ccaagccaaa gccccgaggc
     3841 ctgccctgaa gcagctgtag tggaggagag gcctgggatt ccttagagtc acctttttac
     3901 gaatgtaccg ccactctgtt agctcacagg gaaaataagg aaaagccagg cctcccacct
     3961 cttgactctt gtgagagtga agacaacatg gggcatttag aaaatatatt tttagtgtat
     4021 gataatgtgg gctggcccac acagcaatga gcccaaagac cccctcgctt tgggaattat
     4081 tcatggccct gctcatcaca gcctctgata tgcatgactg taacctaggc tgagccaaga
     4141 atggagctca tgccagaaat ggtcctaagc atgcacatgg ccccctggaa tatcaaaatc
     4201 ctggggagaa agaaatcatc tttgccttgg gcagtgaagc tggaatggca catatctatc
     4261 tgttgccaca tctcctgcct agtggagaag ccttggaagg caacagacac tgagcaagca
     4321 gcagggagga gaatgtcctg gaagggcagg actctaccca agtccctaac atccccagac
     4381 tcttctcttc cataaactct ctaattactc tgctgtttaa atcctggttt tggtcaagcc
     4441 agtcaggttg cataaagaat atgaatacag tatgcatcaa agttgcttcc cagaacagga
     4501 agcaaaacaa acaaacaaac aaacaaacaa aatactgata tcagtaccca gggtgcccaa
     4561 ttaggtcaca cccagtggct gcattgcagc ccctgagctc ctgctgcacc gtgtgtcctg
     4621 ctgcccgagt gggccccacc ctgggttctg aagatgccct tcttaatgga gagctcccga
     4681 tggagggctc caggactgat gctctcccta aggaagggag gcctcagatt tggagaggga
     4741 caccaacagg accagaggag gactgagggg cactggcacc aataagtgga agggaacagc
     4801 gtggtaacaa aaaagagcca tgccacttgc atgctggagg gagtcttttt gtgtcagcct
     4861 aaagcttagg ctggtgtcca tgtggaacat gacatctttc cagtatccct gatccaggaa
     4921 actgcagtga gacccaggtg acccagctct gtgtcatttg gagcccatta aaaagtgagg
     4981 cagccacatg gcggggacat tgaccccact ccagaccaca ctcccatctc catacatagg
     5041 atagaaactg ttcatcagga aggaaaacca aacagaaatt cgtggtctag gggaggggtc
     5101 tgcattcagc atggccatgc tgggctggag tggctgtggg gtgtccagat agatgggcat
     5161 gtagactagt gctttctcaa cctttaatgc atgcacaaat catcgagatc ttgttaaaat
     5221 gtagatcctg ggtgggcacg gtggctcacg cctgtaatcc cagcactttg ggaggctgag
     5281 gcgggcggat catgaggtca ggagatcgag accatcctgg ctaacacggt gaaaccctgt
     5341 ctctactaaa aatacaaaaa attagccagg catggtggtg ggtgcctgta gtcccagcta
     5401 ctcgggaggc tgaggcagga gaatggcatg aacccgggag gcggagcttg cagtgagccg
     5461 agatcgtgct gctgcactcc agcctgggca atagagtgag attccgtctc aaaaaaaaaa
     5521 aaaaaaaaaa tgtagatcct ggctcaggag gtctgggata ggacctggga ttctgagttt
     5581 ctaacaagct cccagggatg tccatgcttc tggtccctga accacacttt gagtgacaag
     5641 gatgtaaact gttggaaaca tggatctggt gctcattgcg ggaaaggggg tgtcctcagg
     5701 gcataggtca cagccaaagc cctgacagcg ggcaagagtc ccagggagag gctgcctgca
     5761 cattgaggag gggaagggct gggcctgagc agtggggagc atccatgctg gcaggtatgc
     5821 agcaggcaag gagatccagg tggagatcag aggacagtga cagtcacagc agcaggggag
     5881 agccaggaga aagctgctcc taggggtgtc tcaaaggaag aagggatctg cagtgtgaac
     5941 tctgcagagg gcagggagaa tagaggttaa gcctttgctc attctgaatt aattgattac
     6001 tgctttttaa aagtgctttc tttctctggg aaaaaaaaaa cattccccag tgcctaaggc
     6061 taacagacgt gggcgctgag ctgtgtctgg tctgctgagt gtattttccc cagagcaatc
     6121 ctcatcttct cagggggtgg ggatttggac aagactcttc ctgaacacgc agcgtggtgg
     6181 ggaagggtgg ccatggaggt tttctgttcc ttctgttgtc actggtgaaa gacgacttgg
     6241 tgcccaattt ctaataaaca caatgctatt agcgtcactc caatttagtg tctgattgtt
     6301 aaatgttaat gtactgcact ctacagtttt aaatataatt agagatgttt acagctttgg
     6361 ttaaatgcac cttgttcttc cacattaaac tttattacaa gcgtcctcca tcaa
//
LOCUS       NM_001031748            2776 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens regulator of DNA class I crossover intermediates 1
            (REDIC1), transcript variant 1, mRNA.
ACCESSION   NM_001031748
VERSION     NM_001031748.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2776)
  AUTHORS   Fan S, Wang Y, Jiang H, Jiang X, Zhou J, Jiao Y, Ye J, Xu Z, Wang Y,
            Xie X, Zhang H, Li Y, Liu W, Zhang X, Ma H, Shi B, Zhang Y, Zubair
            M, Shah W, Xu Z, Xu B and Shi Q.
  TITLE     A novel recombination protein C12ORF40/REDIC1 is required for
            meiotic crossover formation
  JOURNAL   Cell Discov 9 (1), 88 (2023)
   PUBMED   37612290
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2776)
  AUTHORS   Tu C, Wen J, Wang W, Zhu Q, Chen Y, Cheng J, Li Z, Meng L, Li Y, He
            W, Tan C, Xie C, Fu SM, Du J, Lu G, Lin G, Gou LT and Tan YQ.
  TITLE     Loss-of-function variants in human C12orf40 cause male infertility
            by blocking meiotic progression
  JOURNAL   Cell Discov 9 (1), 87 (2023)
   PUBMED   37604834
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2776)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2776)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC048120.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000324616.9/ ENSP00000317671.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC048120.1 and AL705293.1.
            On Nov 22, 2018 this sequence version replaced NM_001031748.3.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2776
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q12"
     gene            1..2776
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /note="regulator of DNA class I crossover intermediates 1"
                     /db_xref="GeneID:283461"
                     /db_xref="HGNC:HGNC:26846"
                     /db_xref="MIM:620495"
     CDS             155..2113
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /note="isoform 1 is encoded by transcript variant 1;
                     uncharacterized protein C12orf40; epididymis luminal
                     protein 206; epididymis secretory protein Li 94; HEI10
                     Interacting Protein 1"
                     /codon_start=1
                     /product="uncharacterized protein C12orf40 isoform 1"
                     /protein_id="NP_001026918.2"
                     /db_xref="CCDS:CCDS41770.1"
                     /db_xref="GeneID:283461"
                     /db_xref="HGNC:HGNC:26846"
                     /db_xref="MIM:620495"
                     /translation="MNWVGGSRSRVLIKQERRKQKEYFEKHRLKSKMKSLGVLSPVKNS
                     AVSLDILNLYMVNQISCKKKIPETVRKPTHVNMNRDIKMPLRKHNLELTMSPHCVPSKL
                     CLDDTETNVNCQRLSSKEDLGPVQSQGMDSYSMLHPQFSKIENCSFTPSSFSVELPSNR
                     HISKLNFTSGIAPTPQKLAYEKKQNDQRSTVNCSDSLLSKLNKSQDVFSPSHKTTRFGT
                     LFERLNSLGNRNLLTKSPAVIMDEDCRSTDEIRQSDYITEKHSIQHIWGKNGKEVSNFL
                     EDVNQSTPNLLSENCDSFVSQNMINVLNIDEQRIKKTFNKCDYDSMGDTCVVTSSDKNH
                     VTDRCIRNIFTVPELTFSNSTLNKTSYPEKCQPNKKYQREYNKNERNDLSTSFENDYYP
                     SSSERKEKFENDYQEKTPQKSIQKYPANSMGNIPSEELHSKQSWDFGLDEILMEEGGIY
                     SLKSKRISTKKISLDSAQSSRSTSYSPRPTDSCFSSSSDLPSEDEDQISQQIEDSNRMT
                     IKTKEKMNNFYVERMAKLSGDRIVKNDDKIHKQNENFYQFSVKNNTDQFPQLQCNSAHI
                     LQNKTNDNCVLQAARCDAGIQTESESVMEEKLDVAIQCDLISKCTCRSDVSLCNLERCS
                     GNIKADTTGGQEIHKNN"
     misc_feature    1241..1456
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WS4.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1559..1672
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86WS4.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2752..2757
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /note="hexamer: ATTAAA"
     polyA_site      2776
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /note="major polyA site"
ORIGIN
        1 aggttgggcc tcaggcggtg gaccagaagg agcttactcg ggccctgacg ttgtcaggag
       61 gccctggggg atcctgctga agctgcgatt tggcgcagag ctgagatgtc tgagctctag
      121 acacagggac ctcagtgtca aaagatttgg gaagatgaat tgggtcgggg ggtcccggtc
      181 cagggttctg atcaagcagg aaagaagaaa gcaaaaggaa tattttgaaa aacacaggtt
      241 aaaatcaaaa atgaaatcac tgggagtttt atctcctgtc aaaaattctg ctgtcagctt
      301 agacattctt aacctatata tggtaaatca gatatcttgc aagaagaaaa ttcctgaaac
      361 tgtgagaaaa ccaacccatg tgaacatgaa tagagacata aaaatgcccc taagaaagca
      421 taatttagaa cttacaatgt cgcctcactg tgtaccttct aaactctgcc ttgatgatac
      481 agaaaccaat gtaaactgtc aaagactaag tagcaaggaa gatcttggcc cagtccagtc
      541 acaaggcatg gactcatata gtatgcttca ccctcagttc agcaaaatag agaactgcag
      601 tttcactcca tcatcttttt cagtggagtt accttctaac agacatattt caaaactaaa
      661 tttcacatct ggaatagcac ctactcctca gaaacttgca tatgaaaaaa agcagaatga
      721 ccagcgcagt actgttaact gttctgattc cttgctttcc aaattaaata aaagtcaaga
      781 tgttttcagt ccatcacata aaactacacg atttgggaca ttatttgaaa gattaaacag
      841 tctaggaaat aggaatttac ttactaaaag ccctgctgta attatggatg aagattgtag
      901 aagcacggat gaaataagac agtcagacta cattactgaa aaacactcaa tacagcatat
      961 ttgggggaaa aatggaaagg aagtttcaaa ttttcttgaa gatgtgaacc agtctactcc
     1021 taaccttcta tcagagaatt gtgactcttt tgttagtcaa aatatgatca atgtattaaa
     1081 catagatgag caaaggataa agaaaacatt taacaagtgt gattatgata gtatgggaga
     1141 tacttgtgta gtcactagtt ctgataaaaa ccatgtcact gacagatgca ttagaaacat
     1201 ttttacagtt ccagagttga cttttagtaa ttcgactttg aataaaacaa gttatccaga
     1261 aaaatgtcag ccaaacaaga agtatcagag agagtataac aaaaatgaaa gaaatgatct
     1321 tagtacatct tttgagaacg attactaccc aagcagctct gaaagaaaag aaaaatttga
     1381 aaatgattac caagagaaga caccacagaa aagtattcag aaatatccag caaactctat
     1441 gggaaatata ccttcggaag aattgcactc taagcagtca tgggactttg gacttgatga
     1501 gattctgatg gaagaaggag gaatatattc tttaaaaagc aagcgaatat ctactaagaa
     1561 aatctctctt gattctgcac agagtagtcg gtctactagt tactctccaa gaccaacaga
     1621 cagctgtttc agttctagtt cagatttgcc atctgaagat gaagatcaaa tatcacagca
     1681 aattgaagat tcaaatagga tgaccatcaa aaccaaggaa aaaatgaata atttttatgt
     1741 agaaaggatg gcaaaacttt caggtgacag gattgttaaa aacgatgaca aaattcacaa
     1801 acagaatgag aatttctacc agttctcagt gaaaaataat acagatcagt ttccacagtt
     1861 gcagtgcaat tcagcccaca ttttgcaaaa caaaaccaat gataactgcg ttctgcaggc
     1921 tgcaaggtgt gatgcaggga tacaaacaga gagtgaatct gtaatggagg aaaaattaga
     1981 tgttgccata cagtgtgatc taatttcaaa atgtacatgt agaagtgatg tttctctttg
     2041 caaccttgaa aggtgcagtg gaaatattaa ggcagatacc actggagggc aggaaatcca
     2101 taagaacaac taatattcta aaatctctac ctaggatgta gaatttcact tgcccttaga
     2161 aaacaacagt aaatgttgaa aatttcatta acatgataag aaatgagaaa aagtagctaa
     2221 gcataagctg acagtgttca gggtgtatat tcacggttca tgttaaaaca ttttaatatt
     2281 attaatgtat gtatttaatt tgtatatagc catttcctta atagctttgg tatatggtag
     2341 agtttttaga aaataatata tttgtaaatg tactagcgtt tttatgtgat tattcagtat
     2401 attacaatga tgcgctgtta tttatgggtt aaaatatgct taattgcttc cttccttgta
     2461 gcatttattt taatattctt tgcagttgca ttttctggca aaaatgttcc ctttcaagat
     2521 atttaagata gaaaataata cctaatatat tttatgtcct cattataata attttgttag
     2581 ctacttctct ttaatattac agtcctattt aaaaattcta gcattaattt gtagataaca
     2641 catatcttct atttgcataa catagttttt ttgttggtgc tattaattca aaggaaaatg
     2701 ttctgtagga ttaaaagatg ttttaatgtt tttataaaat aattgtttga aattaaaaaa
     2761 tgatttatgt tactaa
//
LOCUS       NM_001031749            2487 bp    mRNA    linear   PRI 08-JUL-2023
DEFINITION  Homo sapiens LY6/PLAUR domain containing 5 (LYPD5), transcript
            variant A, mRNA.
ACCESSION   NM_001031749
VERSION     NM_001031749.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2487)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2487)
  AUTHORS   Kriegbaum MC, Clausen OP, Laerum OD and Ploug M.
  TITLE     Expression of the Ly6/uPAR-domain proteins C4.4A and Haldisin in
            non-invasive and invasive skin lesions
  JOURNAL   J Histochem Cytochem 63 (2), 142-154 (2015)
   PUBMED   25414274
  REMARK    GeneRIF: Expression of the Ly6/uPAR-domain proteins C4.4A and
            Haldisin in non-invasive and invasive skin lesions
REFERENCE   3  (bases 1 to 2487)
  AUTHORS   Davis OS, Band G, Pirinen M, Haworth CM, Meaburn EL, Kovas Y,
            Harlaar N, Docherty SJ, Hanscombe KB, Trzaskowski M, Curtis CJ,
            Strange A, Freeman C, Bellenguez C, Su Z, Pearson R, Vukcevic D,
            Langford C, Deloukas P, Hunt S, Gray E, Dronov S, Potter SC,
            Tashakkori-Ghanbaria A, Edkins S, Bumpstead SJ, Blackwell JM, Bramon
            E, Brown MA, Casas JP, Corvin A, Duncanson A, Jankowski JA, Markus
            HS, Mathew CG, Palmer CN, Rautanen A, Sawcer SJ, Trembath RC,
            Viswanathan AC, Wood NW, Barroso I, Peltonen L, Dale PS, Petrill SA,
            Schalkwyk LS, Craig IW, Lewis CM, Price TS, Donnelly P, Plomin R and
            Spencer CC.
  CONSRTM   Wellcome Trust Case Control Consortium 2
  TITLE     The correlation between reading and mathematics ability at age
            twelve has a substantial genetic component
  JOURNAL   Nat Commun 5, 4204 (2014)
   PUBMED   25003214
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2487)
  AUTHORS   Gardsvoll H, Kriegbaum MC, Hertz EP, Alpizar-Alpizar W and Ploug M.
  TITLE     The urokinase receptor homolog Haldisin is a novel differentiation
            marker of stratum granulosum in squamous epithelia
  JOURNAL   J Histochem Cytochem 61 (11), 802-813 (2013)
   PUBMED   23896969
  REMARK    GeneRIF: The study identifies LYPD5 a novel differentiation marker
            of stratum granulosum in squamous epithelia.
REFERENCE   5  (bases 1 to 2487)
  AUTHORS   Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J,
            Milne RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla MK, Wang Q,
            Dicks E, Lee A, Turnbull C, Rahman N, Fletcher O, Peto J, Gibson L,
            Dos Santos Silva I, Nevanlinna H, Muranen TA, Aittomaki K, Blomqvist
            C, Czene K, Irwanto A, Liu J, Waisfisz Q, Meijers-Heijboer H, Adank
            M, van der Luijt RB, Hein R, Dahmen N, Beckman L, Meindl A,
            Schmutzler RK, Muller-Myhsok B, Lichtner P, Hopper JL, Southey MC,
            Makalic E, Schmidt DF, Uitterlinden AG, Hofman A, Hunter DJ, Chanock
            SJ, Vincent D, Bacot F, Tessier DC, Canisius S, Wessels LF, Haiman
            CA, Shah M, Luben R, Brown J, Luccarini C, Schoof N, Humphreys K, Li
            J, Nordestgaard BG, Nielsen SF, Flyger H, Couch FJ, Wang X, Vachon
            C, Stevens KN, Lambrechts D, Moisse M, Paridaens R, Christiaens MR,
            Rudolph A, Nickels S, Flesch-Janys D, Johnson N, Aitken Z, Aaltonen
            K, Heikkinen T, Broeks A, Veer LJ, van der Schoot CE, Guenel P,
            Truong T, Laurent-Puig P, Menegaux F, Marme F, Schneeweiss A, Sohn
            C, Burwinkel B, Zamora MP, Perez JI, Pita G, Alonso MR, Cox A, Brock
            IW, Cross SS, Reed MW, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N,
            Henderson BE, Schumacher F, Le Marchand L, Andrulis IL, Knight JA,
            Glendon G, Mulligan AM, Lindblom A, Margolin S, Hooning MJ,
            Hollestelle A, van den Ouweland AM, Jager A, Bui QM, Stone J, Dite
            GS, Apicella C, Tsimiklis H, Giles GG, Severi G, Baglietto L,
            Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Muller H,
            Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Jones M,
            Figueroa J, Lissowska J, Brinton L, Goldberg MS, Labreche F, Dumont
            M, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Grip M, Brauch H,
            Hamann U, Bruning T, Radice P, Peterlongo P, Manoukian S, Bonanni B,
            Devilee P, Tollenaar RA, Seynaeve C, van Asperen CJ, Jakubowska A,
            Lubinski J, Jaworska K, Durda K, Mannermaa A, Kataja V, Kosma VM,
            Hartikainen JM, Bogdanova NV, Antonenkova NN, Dork T, Kristensen VN,
            Anton-Culver H, Slager S, Toland AE, Edge S, Fostira F, Kang D, Yoo
            KY, Noh DY, Matsuo K, Ito H, Iwata H, Sueta A, Wu AH, Tseng CC, Van
            Den Berg D, Stram DO, Shu XO, Lu W, Gao YT, Cai H, Teo SH, Yip CH,
            Phuah SY, Cornes BK, Hartman M, Miao H, Lim WY, Sng JH, Muir K,
            Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Shen CY, Hsiung
            CN, Wu PE, Ding SL, Sangrajrang S, Gaborieau V, Brennan P, McKay J,
            Blot WJ, Signorello LB, Cai Q, Zheng W, Deming-Halverson S,
            Shrubsole M, Long J, Simard J, Garcia-Closas M, Pharoah PD,
            Chenevix-Trench G, Dunning AM, Benitez J and Easton DF.
  CONSRTM   Breast and Ovarian Cancer Susceptibility Collaboration; Hereditary
            Breast and Ovarian Cancer Research Group Netherlands (HEBON);
            kConFab Investigators; Australian Ovarian Cancer Study Group; GENICA
            (Gene Environment Interaction and Breast Cancer in Germany) Network
  TITLE     Large-scale genotyping identifies 41 new loci associated with breast
            cancer risk
  JOURNAL   Nat Genet 45 (4), 353-361 (2013)
   PUBMED   23535729
REFERENCE   6  (bases 1 to 2487)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction Assessment
            with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (bases 1 to 2487)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2487)
  AUTHORS   Zhang Z and Henzel WJ.
  TITLE     Signal peptide prediction based on analysis of experimentally
            verified cleavage sites
  JOURNAL   Protein Sci 13 (10), 2819-2824 (2004)
   PUBMED   15340161
REFERENCE   9  (bases 1 to 2487)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC057816.1, SRR1803615.233771.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000377950.8/ ENSP00000367185.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC364960.1, AY358719.1, BC057816.1, BC044237.1, AC115522.2 and
            CF529795.1.
            On Nov 22, 2018 this sequence version replaced NM_001031749.2.
            Transcript Variant: This variant (A) encodes the longer protein
            (isoform A).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2487
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.31"
     gene            1..2487
                     /gene="LYPD5"
                     /gene_synonym="HALDISIN; PRO4356"
                     /note="LY6/PLAUR domain containing 5"
                     /db_xref="GeneID:284348"
                     /db_xref="HGNC:HGNC:26397"
                     /db_xref="MIM:619618"
     CDS             68..823
                     /gene="LYPD5"
                     /gene_synonym="HALDISIN; PRO4356"
                     /note="isoform A precursor is encoded by transcript variant
                     A; ly6/PLAUR domain-containing protein 5;
                     metastasis-associated protein; human antigen with
                     LU-domains expressed in skin"
                     /codon_start=1
                     /product="ly6/PLAUR domain-containing protein 5 isoform A
                     precursor"
                     /protein_id="NP_001026919.2"
                     /db_xref="CCDS:CCDS46096.1"
                     /db_xref="GeneID:284348"
                     /db_xref="HGNC:HGNC:26397"
                     /db_xref="MIM:619618"
                     /translation="MAMGVPRVILLCLFGAALCLTGSQALQCYSFEHTYFGPFDLRAMK
                     LPSISCPHECFEAILSLDTGYRAPVTLVRKGCWTGPPAGQTQSNADALPPDYSVVRGCT
                     TDKCNAHLMTHDALPNLSQAPDPPTLSGAECYACIGVHQDDCAIGRSRRVQCHQDQTAC
                     FQGNGRMTVGNFSVPVYIRTCHRPSCTTEGTTSPWTAIDLQGSCCEGYLCNRKSMTQPF
                     TSASATTPPRALQVLALLLPVLLLVGLSA"
     sig_peptide     68..142
                     /gene="LYPD5"
                     /gene_synonym="HALDISIN; PRO4356"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    425..427
                     /gene="LYPD5"
                     /gene_synonym="HALDISIN; PRO4356"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6UWN5.2); glycosylation site"
     misc_feature    587..589
                     /gene="LYPD5"
                     /gene_synonym="HALDISIN; PRO4356"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6UWN5.2); glycosylation site"
     polyA_site      2173
                     /gene="LYPD5"
                     /gene_synonym="HALDISIN; PRO4356"
                     /note="major polyA site"
     polyA_site      2223
                     /gene="LYPD5"
                     /gene_synonym="HALDISIN; PRO4356"
     regulatory      2462..2467
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LYPD5"
                     /gene_synonym="HALDISIN; PRO4356"
                     /note="hexamer: CATAAA"
     polyA_site      2487
                     /gene="LYPD5"
                     /gene_synonym="HALDISIN; PRO4356"
                     /note="major polyA site"
ORIGIN
        1 agtaaggaga accagccagg cagcacatca cagcgggagg agctgtccca ggtggcccag
       61 ctcagcaatg gcaatggggg tccccagagt cattctgctc tgcctctttg gggctgcgct
      121 ctgcctgaca gggtcccaag ccctgcagtg ctacagcttt gagcacacct actttggccc
      181 ctttgacctc agggccatga agctgcccag catctcctgt cctcatgagt gctttgaggc
      241 tatcctgtct ctggacaccg ggtatcgcgc gccggtgacc ctggtgcgga agggctgctg
      301 gaccgggcct cctgcgggcc agacgcaatc gaacgcggac gcgctgccgc cagactactc
      361 ggtggtgcgc ggctgcacaa ctgacaaatg caacgcccac ctcatgactc atgacgccct
      421 ccccaacctg agccaagcac ccgacccgcc gacgctcagc ggcgccgagt gctacgcctg
      481 tatcggggtc caccaggatg actgcgctat cggcaggtcc cgacgagtcc agtgtcacca
      541 ggaccagacc gcctgcttcc agggcaatgg cagaatgaca gttggcaatt tctcagtccc
      601 tgtgtacatc agaacctgcc accggccctc ctgcaccacc gagggcacca ccagcccctg
      661 gacagccatc gacctccagg gctcctgctg tgaggggtac ctctgcaaca ggaaatccat
      721 gacccagccc ttcaccagtg cttcagccac cacccctccc cgagcactac aggtcctggc
      781 cctgctcctc ccagtcctcc tgctggtggg gctctcagca tagaccgccc ctccaggatg
      841 ctggggacag ggctcacaca cctcattctt gctgcttcag cccctatcac atagctcact
      901 ggaaaatgat gttaaagtaa gaattgcact cctgtccctc tggccttcca tctctcccgc
      961 ccttgtgccc cacaacctgg ccaacagtac tggaagaaac tggacacagt caccagcatc
     1021 cccggggagg gcaaaacagc catgtcgtgc cccgatgaag agcaattctg atcacagctg
     1081 ttactcactg agcaccagcc aggcaccagg caccccataa cacggcttcc tgtgctctcc
     1141 ctccagagcc tgtcgcagct ctaggaggga gctatacaat gatgtcttta ttagtgtcat
     1201 catgagaagc ccaataagca gtatgcccta acagttagta ggccaggctc tggagctaag
     1261 ctgcatgggt tcaaatccca gctccaccat tcagcctgca gagaccatga gcgagttact
     1321 taagccaggc tctggagcta agctgcatgg gttcaaatcc cagctccagc attcagccta
     1381 cagagaccat gggtgagtta cttaagccag gctctggagc taagctgcat gggttcaaat
     1441 cccagctcca ccattcagcc tgcagagact gtgggtgagt tacttgagct ctctgtgcca
     1501 atattttctc acctataagg tggaggtgaa aataaactct ataacatgac aagaactact
     1561 tcacagtagt tgcagtgagg attcaacgag atgaacattt agtacttggg acacagcagt
     1621 ggcccagtgt aaatgggcta cttgtcataa gccctaagtc acaggtcaac aaactgagag
     1681 gcaaaagcac ttggttgagc ttgtgtatct agtgagtatg gattcaggga ccagattccc
     1741 agccccacga actgctaagc aaccccacct cctaaacaca tgagtgccga ttaacttcac
     1801 agaaaaacac acaaggcaaa gttcagcgag gtgaaattct ccaagctata aagatcaggg
     1861 aagacttcct ggaggaattc acccttgagc aaaatcctaa aggatcaata gtagctggca
     1921 aaaagaagca ggaggaagcg cattctaggt agaggagaca gcctggacaa aggtctgagg
     1981 gaggaaggag cacaaggagt gcaggacact ttcatgagtg caggacactt tcataactgc
     2041 atgaacttca tagagatggg atcctttagc atgttctctg tgcacatgct tgaccatgtt
     2101 ctttcacatg ctttttgcca cttgatcttt ccagcaactc agtgagagaa gcaaaaaagt
     2161 aagttgcatc ctgctattgt ctgaatgttt gtgtctcccc aaaattcatc ttttgaaacc
     2221 taattaccaa agtgatatta ctgggaggtg gggcctttgg gaggtggtga gatcatgagg
     2281 gtggagcccc catgaatagg attagtgccc ttataaaaga ggccctggag agctgccttg
     2341 ccccttccac cacatgagaa cacagccagc aggtgcctat aagcaagaaa gtgggttctc
     2401 accagccatc gaatctgctg gtgcattgat tgcagacttc ccagactcca gagctatgag
     2461 acataaattt ctgttgtgta taagcca
//
LOCUS       NM_001031803            3553 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens LLGL scribble cell polarity complex component 2
            (LLGL2), transcript variant 3, mRNA.
ACCESSION   NM_001031803
VERSION     NM_001031803.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3553)
  AUTHORS   Hisada T, Kondo N, Wanifuchi-Endo Y, Osaga S, Fujita T, Asano T,
            Uemoto Y, Nishikawa S, Katagiri Y, Terada M, Kato A, Sugiura H,
            Okuda K, Kato H, Komura M, Morita S, Takahashi S and Toyama T.
  TITLE     Co-expression effect of LLGL2 and SLC7A5 to predict prognosis in
            ERalpha-positive breast cancer
  JOURNAL   Sci Rep 12 (1), 16515 (2022)
   PUBMED   36192404
  REMARK    GeneRIF: Co-expression effect of LLGL2 and SLC7A5 to predict
            prognosis in ERalpha-positive breast cancer. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 3553)
  AUTHORS   Liu J, Wang H, Fang M, Chen X and Zeng X.
  TITLE     A human cell polarity protein Lgl2 regulates influenza A virus
            nucleoprotein exportation from nucleus in MDCK cells
  JOURNAL   J Biosci 45 (2020)
   PUBMED   32385218
  REMARK    GeneRIF: A human cell polarity protein Lgl2 regulates influenza A
            virus nucleoprotein exportation from nucleus in MDCK cells.
REFERENCE   3  (bases 1 to 3553)
  AUTHORS   Ufimtsev IS, Almagor L, Weis WI and Levitt M.
  TITLE     Solving the structure of Lgl2, a difficult blind test of
            unsupervised structure determination
  JOURNAL   Proc Natl Acad Sci U S A 116 (22), 10819-10823 (2019)
   PUBMED   31088964
  REMARK    GeneRIF: Study and determination of the crystal structure of lethal
            giant larvae homolog 2 (Lgl2).
REFERENCE   4  (bases 1 to 3553)
  AUTHORS   Almagor L, Ufimtsev IS, Ayer A, Li J and Weis WI.
  TITLE     Structural insights into the aPKC regulatory switch mechanism of the
            human cell polarity protein lethal giant larvae 2
  JOURNAL   Proc Natl Acad Sci U S A 116 (22), 10804-10812 (2019)
   PUBMED   31088962
  REMARK    GeneRIF: The crystal structures of human lethal giant larvae homolog
            2 (Lgl2) in both its unphosphorylated and atypical protein kinase
            C(aPKC) phosphorylated states are presented and investigated in this
            article.
REFERENCE   5  (bases 1 to 3553)
  AUTHORS   Saito Y, Li L, Coyaud E, Luna A, Sander C, Raught B, Asara JM, Brown
            M and Muthuswamy SK.
  TITLE     LLGL2 rescues nutrient stress by promoting leucine uptake in ER+
            breast cancer
  JOURNAL   Nature 569 (7755), 275-279 (2019)
   PUBMED   30996345
  REMARK    GeneRIF: LLGL2 functions as a promoter of tumour growth and not as a
            tumour suppressor in ER(+) breast cancer; beyond breast cancer,
            adaptation to nutrient stress is critically important, and findings
            identify an unexpected role for LLGL2 in this process
REFERENCE   6  (bases 1 to 3553)
  AUTHORS   Yamada Y, Fuku N, Tanaka M, Aoyagi Y, Sawabe M, Metoki N, Yoshida H,
            Satoh K, Kato K, Watanabe S, Nozawa Y, Hasegawa A and Kojima T.
  TITLE     Identification of CELSR1 as a susceptibility gene for ischemic
            stroke in Japanese individuals by a genome-wide association study
  JOURNAL   Atherosclerosis 207 (1), 144-149 (2009)
   PUBMED   19403135
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   7  (bases 1 to 3553)
  AUTHORS   Zimmermann T, Kashyap A, Hartmann U, Otto G, Galle PR, Strand S and
            Strand D.
  TITLE     Cloning and characterization of the promoter of Hugl-2, the human
            homologue of Drosophila lethal giant larvae (lgl) polarity gene
  JOURNAL   Biochem Biophys Res Commun 366 (4), 1067-1073 (2008)
   PUBMED   18155665
  REMARK    GeneRIF: The identification and functional characterization of the
            promoter region ( approximately 1.2kb) of the Hugl-2 gene are
            reported.
REFERENCE   8  (bases 1 to 3553)
  AUTHORS   Spaderna S, Schmalhofer O, Wahlbuhl M, Dimmler A, Bauer K, Sultan A,
            Hlubek F, Jung A, Strand D, Eger A, Kirchner T, Behrens J and
            Brabletz T.
  TITLE     The transcriptional repressor ZEB1 promotes metastasis and loss of
            cell polarity in cancer
  JOURNAL   Cancer Res 68 (2), 537-544 (2008)
   PUBMED   18199550
  REMARK    GeneRIF: Retention of Lgl2 expression is critical for the epithelial
            phenotype;its loss might be involved in metastasis.
REFERENCE   9  (bases 1 to 3553)
  AUTHORS   Yasumi M, Sakisaka T, Hoshino T, Kimura T, Sakamoto Y, Yamanaka T,
            Ohno S and Takai Y.
  TITLE     Direct binding of Lgl2 to LGN during mitosis and its requirement for
            normal cell division
  JOURNAL   J Biol Chem 280 (8), 6761-6765 (2005)
   PUBMED   15632202
  REMARK    GeneRIF: binding between Lgl2 and LGN play a role in mitotic spindle
            organization through regulating formation of the LGN.NuMA complex;
            Lgl2 forms a Lgl2.Par-6.aPKC.LGN complex, which responds to mitotic
            signaling to establish normal cell division
REFERENCE   10  (bases 1 to 3553)
  AUTHORS   Yamanaka T, Horikoshi Y, Sugiyama Y, Ishiyama C, Suzuki A, Hirose T,
            Iwamatsu A, Shinohara A and Ohno S.
  TITLE     Mammalian Lgl forms a protein complex with PAR-6 and aPKC
            independently of PAR-3 to regulate epithelial cell polarity
  JOURNAL   Curr Biol 13 (9), 734-743 (2003)
   PUBMED   12725730
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC064994.1, SRR7346977.1398993.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000392550.8/ ENSP00000376333.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC100787.17, X87342.1,
            BC064994.1 and BC031842.1.
            On Jun 2, 2019 this sequence version replaced NM_001031803.1.
            Summary: The lethal (2) giant larvae protein of Drosophila plays a
            role in asymmetric cell division, epithelial cell polarity, and
            cell migration. This human gene encodes a protein similar to lethal
            (2) giant larvae of Drosophila. In fly, the protein's ability to
            localize cell fate determinants is regulated by the atypical
            protein kinase C (aPKC). In human, this protein interacts with
            aPKC-containing complexes and is cortically localized in mitotic
            cells. Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest isoform (c).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3553
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..3553
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="LLGL scribble cell polarity complex component 2"
                     /db_xref="GeneID:3993"
                     /db_xref="HGNC:HGNC:6629"
                     /db_xref="MIM:618483"
     CDS             160..3222
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="isoform c is encoded by transcript variant 3; human
                     giant larvae homolog; lethal(2) giant larvae protein
                     homolog 2; LLGL2, scribble cell polarity complex component;
                     lethal giant larvae homolog 2, scribble cell polarity
                     complex component"
                     /codon_start=1
                     /product="LLGL scribble cell polarity complex component 2
                     isoform c"
                     /protein_id="NP_001026973.1"
                     /db_xref="CCDS:CCDS32733.1"
                     /db_xref="GeneID:3993"
                     /db_xref="HGNC:HGNC:6629"
                     /db_xref="MIM:618483"
                     /translation="MRRFLRPGHDPVRERLKRDLFQFNKTVEHGFPHQPSALGYSPSLR
                     ILAIGTRSGAIKLYGAPGVEFMGLHQENNAVTQIHLLPGQCQLVTLLDDNSLHLWSLKV
                     KGGASELQEDESFTLRGPPGAAPSATQITVVLPHSSCELLYLGTESGNVFVVQLPAFRA
                     LEDRTISSDAVLQRLPEEARHRRVFEMVEALQEHPRDPNQILIGYSRGLVVIWDLQGSR
                     VLYHFLSSQQLENIWWQRDGRLLVSCHSDGSYCQWPVSSEAQQPEPLRSLVPYGPFPCK
                     AITRILWLTTRQGLPFTIFQGGMPRASYGDRHCISVIHDGQQTAFDFTSRVIGFTVLTE
                     ADPAATFDDPYALVVLAEEELVVIDLQTAGWPPVQLPYLASLHCSAITCSHHVSNIPLK
                     LWERIIAAGSRQNAHFSTMEWPIDGGTSLTPAPPQRDLLLTGHEDGTVRFWDASGVCLR
                     LLYKLSTVRVFLTDTDPNENFSAQGEDEWPPLRKVGSFDPYSDDPRLGIQKIFLCKYSG
                     YLAVAGTAGQVLVLELNDEAAEQAVEQVEADLLQDQEGYRWKGHERLAARSGPVRFEPG
                     FQPFVLVQCQPPAVVTSLALHSEWRLVAFGTSHGFGLFDHQQRRQVFVKCTLHPSDQLA
                     LEGPLSRVKSLKKSLRQSFRRMRRSRVSSRKRHPAGPPGEAQEGSAKAERPGLQNMELA
                     PVQRKIEARSAEDSFTGFVRTLYFADTYLKDSSRHCPSLWAGTNGGTIYAFSLRVPPAE
                     RRMDEPVRAEQAKEIQLMHRAPVVGILVLDGHSVPLPEPLEVAHDLSKSPDMQGSHQLL
                     VVSEEQFKVFTLPKVSAKLKLKLTALEGSRVRRVSVAHFGSRRAEDYGEHHLAVLTNLG
                     DIQVVSLPLLKPQVRYSCIRREDVSGIASCVFTKYGQGFYLISPSEFERFSLSTKWLVE
                     PRCLVDSAETKNHRPGNGAGPKKAPSRARNSGTQSDGEEKQPGLVMERALLSDERVLKE
                     IQSTLEGDRGSGNWRSHRAAVGCSLSNGGAE"
     misc_feature    265..366
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: WD 1"
     misc_feature    385..510
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: WD 2"
     misc_feature    553..666
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: WD 3"
     misc_feature    736..840
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: WD 4"
     misc_feature    856..963
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: WD 5"
     misc_feature    1003..1131
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: WD 6"
     misc_feature    1153..1257
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: WD 7"
     misc_feature    1321..1551
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: WD 8"
     misc_feature    1681..1908
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: WD 9"
     misc_feature    1933..2118
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: WD 10"
     misc_feature    2116..2226
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2116..2118
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:12725730; propagated from
                     UniProtKB/Swiss-Prot (Q6P1M3.2); phosphorylation site"
     misc_feature    2296..2466
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: WD 11"
     misc_feature    2491..2649
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: WD 12"
     misc_feature    2662..2823
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: WD 13"
     misc_feature    2863..2934
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: WD 14"
     misc_feature    2971..3084
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3052..3054
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6P1M3.2); phosphorylation site"
     misc_feature    3133..3219
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P1M3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3202..3204
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q6P1M3.2); phosphorylation site"
     regulatory      3531..3536
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="hexamer: AATAAA"
     polyA_site      3553
                     /gene="LLGL2"
                     /gene_synonym="HGL; Hugl-2; LGL2"
                     /note="major polyA site"
ORIGIN
        1 gcgccggagg tgagcaggaa ggagacggcc gcccagcagc ccgtgggcag gcgcggcgga
       61 gcgagcgggg ccggcggcgg gcgccgaggg acgccgaggc ctcgggcggg ggctggcccg
      121 gggttccagg tctccagtgg gggctgcaga ctaagcaaaa tgaggcggtt cctgaggcca
      181 gggcatgacc ctgtgcggga gaggctcaag cgggacctgt tccagtttaa caagacggtg
      241 gagcatggct tcccgcacca gcccagcgcc ctcggctaca gcccgtccct gcgcatcctg
      301 gccatcggca cccgttctgg agccatcaag ctctacggag ccccaggcgt ggagttcatg
      361 gggctgcacc aggagaacaa cgctgtgacg cagatccacc tcctgcccgg ccagtgccag
      421 ctggtcaccc tgctggatga caacagcctg cacctttgga gcctgaaggt caagggcggg
      481 gcatcggagc tgcaggagga tgagagcttc acactgcgtg gacccccagg ggctgccccc
      541 agtgccacac agatcaccgt ggtcctgcca cattcctcct gcgagctgct ctacctgggc
      601 accgagagtg gcaacgtgtt tgtggtgcag ctgccagctt ttcgtgcgct ggaggaccgg
      661 accatcagct cggacgcggt gctgcagcgg ttgccagagg aggcccgcca ccggcgtgtg
      721 ttcgagatgg tggaggcact gcaggagcac cctcgagacc ccaaccagat cctgatcggc
      781 tacagccgag gcctcgttgt catctgggac ctacagggca gccgcgtgct ctaccacttc
      841 ctcagcagcc agcaactgga gaacatctgg tggcagcggg acggccgcct gctcgtcagc
      901 tgtcactctg acggcagcta ctgccagtgg cccgtgtcca gcgaagccca gcaaccagag
      961 cccctccgca gcctcgtgcc ttacggtccc tttccttgca aagcgattac cagaatcctc
     1021 tggctgacca ctaggcaggg gttgcccttc accatcttcc agggtggcat gccacgggcc
     1081 agctacgggg accgccactg catctcagtg atccacgatg gccagcagac ggccttcgac
     1141 ttcacctccc gtgtcatcgg cttcactgtc ctcacagagg cagaccctgc agccaccttt
     1201 gacgacccct atgccctggt ggtgctggct gaggaggagc tggtggtgat tgacctgcag
     1261 acagcaggct ggccaccggt ccagctgccc tacctggctt ctctgcactg ttccgccatc
     1321 acctgctctc accacgtctc caacatcccg ctgaagctgt gggagcggat cattgccgcc
     1381 ggcagccggc agaacgcaca cttctccacc atggagtggc caattgatgg tggcaccagc
     1441 ctgaccccag ccccacccca gagggacctg ctgctcacag ggcacgagga cggcacggtg
     1501 cggttctggg atgcctcggg tgtctgcctg cggctgctct acaaactcag cactgtgcgc
     1561 gtgttcctca ccgacacgga ccccaacgag aacttcagtg cccagggcga ggacgagtgg
     1621 cccccactcc gcaaggtggg ctcctttgac ccctacagtg atgacccccg gctgggcatc
     1681 cagaagatct tcctctgcaa gtacagcggc tacctggctg tggcaggcac ggcagggcag
     1741 gtgctggtac tggaactgaa tgacgaggca gcggagcagg ctgtggagca ggtggaggcc
     1801 gacctgctgc aggaccaaga gggctaccgc tggaaggggc acgagcgcct ggcagcccgc
     1861 tcagggcccg tgcgctttga gcctggcttt cagcccttcg tgttggtgca gtgtcagccc
     1921 ccggctgtgg tcacctcctt ggccctgcac tctgagtggc ggctcgtggc cttcggcacc
     1981 agccatggct ttggcctctt tgaccaccag cagcggcggc aggtctttgt taagtgcaca
     2041 ctgcacccca gtgaccagct ggccttggag ggcccactct cccgcgtcaa gtccctcaag
     2101 aagtccttgc gtcagtcatt ccgccggatg cgtcggagcc gggtgtccag ccggaagcgg
     2161 cacccggctg gccccccagg agaggcacag gaggggagtg ccaaggctga gcggccaggc
     2221 ctccagaaca tggagctggc gcctgtgcag cgcaagatcg aggctcgctc ggcagaggac
     2281 tccttcacag gcttcgtccg gaccctgtac tttgctgaca cctacctgaa ggacagctcc
     2341 cggcactgcc cctcgctgtg ggctggcacc aatgggggca ccatctatgc cttctccctg
     2401 cgtgtgcctc ccgccgagcg gagaatggat gagcctgtgc gggcagagca ggccaaggag
     2461 atccagctga tgcaccgggc gccggtggtg ggcatcctgg tgctcgacgg acacagcgta
     2521 ccccttcccg agcccctcga agtggcccat gatctgtcga agagccctga catgcaggga
     2581 agccaccagc tgctcgtcgt atcagaggag cagttcaagg tgttcacgct gcccaaggtg
     2641 agtgccaagc tgaagttgaa gctgacggcc ctggagggct caagagtgcg gcgggtcagc
     2701 gtggcccact tcggcagtcg tcgagccgag gactacgggg agcaccacct ggcagtcctt
     2761 accaacctgg gcgacatcca ggtggtctcg ctgcccctgc tcaagcccca ggtgcgctac
     2821 agctgcatcc gccgggagga cgtcagtggc atcgcctcct gcgtcttcac caaatatggc
     2881 caaggcttct acctgatctc accctcggag tttgagcgct tctctctctc caccaagtgg
     2941 ctggtggagc cccggtgtct ggtggattca gcagaaacca agaaccaccg ccctggtaac
     3001 ggtgcgggcc ccaagaaggc cccgagccga gccaggaact cagggactca gagtgatggc
     3061 gaggagaagc agcccggcct ggtgatggag cgcgctctgc tcagtgatga gagagtcctg
     3121 aaggaaatcc agagcacact ggagggagac cgcgggagcg gcaactggcg ttcacatcga
     3181 gccgccgtgg ggtgcagcct cagcaatggc ggagcagagt gagtggctga gcgtccaggc
     3241 tgcgcgatga gcacacacta ctactgatgg cctttcgggg gtccctgccc caaccggaga
     3301 ggccggtgca cagggccccg ccaggggctg ggggcatccc ggcttccaca atgcagctgc
     3361 tctgggcctc gggagaggag agaccccagt cccctgggct gcccttcccg ggcctcgtct
     3421 gtctgggtcc tttggtcaat gttgcacagt ttttattgct cccatccctt tttgtagtgg
     3481 gctgggtttt aagttataaa tgttaactgc ctctgggtga aaaagttttt aataaacacc
     3541 tattacctct tga
//
LOCUS       NM_001031827             399 bp    mRNA    linear   PRI 10-FEB-2023
DEFINITION  Homo sapiens bolA family member 2 (BOLA2), transcript variant 1,
            mRNA.
ACCESSION   NM_001031827
VERSION     NM_001031827.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 399)
  AUTHORS   Talib EA and Outten CE.
  TITLE     Iron-sulfur cluster biogenesis, trafficking, and signaling: Roles
            for CGFS glutaredoxins and BolA proteins
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1868 (1), 118847 (2021)
   PUBMED   32910989
  REMARK    Review article
REFERENCE   2  (bases 1 to 399)
  AUTHORS   Giannuzzi G, Schmidt PJ, Porcu E, Willemin G, Munson KM, Nuttle X,
            Earl R, Chrast J, Hoekzema K, Risso D, Mannik K, De Nittis P, Baratz
            ED, Herault Y, Gao X, Philpott CC, Bernier RA, Kutalik Z, Fleming
            MD, Eichler EE and Reymond A.
  CONSRTM   16p11.2 Consortium
  TITLE     The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and
            Anemia Predisposition in Chromosome 16p11.2 Autism Individuals
  JOURNAL   Am J Hum Genet 105 (5), 947-958 (2019)
   PUBMED   31668704
  REMARK    GeneRIF: BOLA2 participates in iron homeostasis in vivo.
REFERENCE   3  (bases 1 to 399)
  AUTHORS   Frey AG, Palenchar DJ, Wildemann JD and Philpott CC.
  TITLE     A Glutaredoxin.BolA Complex Serves as an Iron-Sulfur Cluster
            Chaperone for the Cytosolic Cluster Assembly Machinery
  JOURNAL   J Biol Chem 291 (43), 22344-22356 (2016)
   PUBMED   27519415
  REMARK    GeneRIF: The Glrx3 and BolA2 bound and facilitated Fe-S
            incorporation into Ciapin1, a [2Fe-2S] protein functioning early in
            the cytosolic Fe-S assembly pathway. Thus, Glrx3.BolA is a [2Fe-2S]
            chaperone complex capable of transferring [2Fe-2S] clusters to
            apoproteins in human cells.
REFERENCE   4  (bases 1 to 399)
  AUTHORS   Nuttle,X., Giannuzzi,G., Duyzend,M.H., Schraiber,J.G., Narvaiza,I.,
            Sudmant,P.H., Penn,O., Chiatante,G., Malig,M., Huddleston,J.,
            Benner,C., Camponeschi,F., Ciofi-Baffoni,S., Stessman,H.A.,
            Marchetto,M.C., Denman,L., Harshman,L., Baker,C., Raja,A.,
            Penewit,K., Janke,N., Tang,W.J., Ventura,M., Banci,L., Antonacci,F.,
            Akey,J.M., Amemiya,C.T., Gage,F.H., Reymond,A. and Eichler,E.E.
  TITLE     Emergence of a Homo sapiens-specific gene family and chromosome
            16p11.2 CNV susceptibility
  JOURNAL   Nature 536 (7615), 205-209 (2016)
   PUBMED   27487209
  REMARK    GeneRIF: BOLA2 shows Homo sapiens-specific duplication; this
            occurred around 280,000 years ago, with the duplication nearly fixed
            early in the human lineage
REFERENCE   5  (bases 1 to 399)
  AUTHORS   Banci L, Camponeschi F, Ciofi-Baffoni S and Muzzioli R.
  TITLE     Elucidating the Molecular Function of Human BOLA2 in GRX3-Dependent
            Anamorsin Maturation Pathway
  JOURNAL   J Am Chem Soc 137 (51), 16133-16143 (2015)
   PUBMED   26613676
  REMARK    GeneRIF: apo GRX3 and apo BOLA2 form a heterotrimeric complex,
            composed by two BOLA2 molecules and one GRX3 molecule
REFERENCE   6  (bases 1 to 399)
  AUTHORS   Willems P, Wanschers BF, Esseling J, Szklarczyk R, Kudla U, Duarte
            I, Forkink M, Nooteboom M, Swarts H, Gloerich J, Nijtmans L, Koopman
            W and Huynen MA.
  TITLE     BOLA1 is an aerobic protein that prevents mitochondrial morphology
            changes induced by glutathione depletion
  JOURNAL   Antioxid Redox Signal 18 (2), 129-138 (2013)
   PUBMED   22746225
REFERENCE   7  (bases 1 to 399)
  AUTHORS   Zhou YB, Cao JB, Wan BB, Wang XR, Ding GH, Zhu H, Yang HM, Wang KS,
            Zhang X and Han ZG.
  TITLE     hBolA, novel non-classical secreted proteins, belonging to different
            BolA family with functional divergence
  JOURNAL   Mol Cell Biochem 317 (1-2), 61-68 (2008)
   PUBMED   18548201
  REMARK    GeneRIF: This study reported that all three human BolA proteins
            (hBolA1, hBolA2, and hBolA3) are novel non-classical secreted
            proteins identified with bioinformatics and molecular biology
            experiments.
REFERENCE   8  (bases 1 to 399)
  AUTHORS   Kasai T, Inoue M, Koshiba S, Yabuki T, Aoki M, Nunokawa E, Seki E,
            Matsuda T, Matsuda N, Tomo Y, Shirouzu M, Terada T, Obayashi N,
            Hamana H, Shinya N, Tatsuguchi A, Yasuda S, Yoshida M, Hirota H,
            Matsuo Y, Tani K, Suzuki H, Arakawa T, Carninci P, Kawai J,
            Hayashizaki Y, Kigawa T and Yokoyama S.
  TITLE     Solution structure of a BolA-like protein from Mus musculus
  JOURNAL   Protein Sci 13 (2), 545-548 (2004)
   PUBMED   14718656
REFERENCE   9  (bases 1 to 399)
  AUTHORS   Ito M, Takebayashi S, Okumura K, Ohkubo T, Nishio M, Kawano M,
            Komada H, Ito Y and Tsurudome M.
  TITLE     Up-regulated expression of a novel gene in activated human
            peripheral blood mononuclear cells that is a truncated paralog of
            the human system L-amino acid transporter 1
  JOURNAL   Int J Biochem Cell Biol 34 (9), 1152-1163 (2002)
   PUBMED   12009310
REFERENCE   10  (bases 1 to 399)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC022832.1, BI752396.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000330978.4/ ENSP00000331127.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC133555.3.
            On Apr 19, 2021 this sequence version replaced NM_001031827.2.
            Summary: This gene is located within a region of a segmental
            duplication on chromosome 16 and is identical to BOLA2B (bolA
            family member 2B). The product of this gene belongs to a family of
            proteins that are widely conserved and may be involved in iron
            maturation. Related pseudogenes are found multiple different
            chromosomes. Alternative splicing results in multiple transcript
            variants. Transcripts initiating at this locus may extend into
            downstream SMG1 pseudogene 6 (SMG1P6) and encode fusion proteins
            with a C-terminus related to SMG1 phosphatidylinositol
            3-kinase-related kinase. A readthrough locus is represented with
            GeneID:107282092. [provided by RefSeq, Feb 2016].
            Transcript Variant: This variant (1) encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..399
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..399
                     /gene="BOLA2"
                     /gene_synonym="BOLA2A; BOLA2B; My016"
                     /note="bolA family member 2"
                     /db_xref="GeneID:552900"
                     /db_xref="HGNC:HGNC:29488"
                     /db_xref="MIM:613182"
     CDS             99..359
                     /gene="BOLA2"
                     /gene_synonym="BOLA2A; BOLA2B; My016"
                     /note="isoform 1 is encoded by transcript variant 1;
                     BolA-like protein 2 member A; bolA homolog 2"
                     /codon_start=1
                     /product="bolA-like protein 2 isoform 1"
                     /protein_id="NP_001026997.2"
                     /db_xref="CCDS:CCDS32426.2"
                     /db_xref="GeneID:552900"
                     /db_xref="HGNC:HGNC:29488"
                     /db_xref="MIM:613182"
                     /translation="MELSAEYLREKLQRDLEAEHVEVEDTTLNRCSCSFRVLVVSAKFE
                     GKPLLQRHRLVNACLAEELPHIHAFEQKTLTPDQWARERQK"
     misc_feature    99..101
                     /gene="BOLA2"
                     /gene_synonym="BOLA2A; BOLA2B; My016"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000269|PubMed:12665801; propagated from
                     UniProtKB/Swiss-Prot (Q9H3K6.1); acetylation site"
     regulatory      381..386
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BOLA2"
                     /gene_synonym="BOLA2A; BOLA2B; My016"
                     /note="hexamer: ATTAAA"
     polyA_site      399
                     /gene="BOLA2"
                     /gene_synonym="BOLA2A; BOLA2B; My016"
                     /note="major polyA site"
ORIGIN
        1 cagcggaagt ggctcctgta aggcagcaag gtagcgtggc cggcgcccga gctggggttg
       61 tgtccctgct gggctgccgt tccagctgga ctgccgccat ggaactcagc gccgaatacc
      121 tccgcgagaa gctgcagcgg gacctggagg cggagcatgt ggaggtggag gacacgaccc
      181 tcaaccgttg ctcctgtagc ttccgagtcc tggtggtgtc ggccaagttc gaggggaaac
      241 cgctgcttca gagacacagg ctggtgaacg cgtgcctagc agaagagctc ccgcacatcc
      301 atgcctttga acagaaaacc ctgaccccag accagtgggc acgtgagcga cagaaatgag
      361 ggactgggat ctgcacagcc attaaattat aaatctgga
//
LOCUS       NM_001031834            1029 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens RAB40A like (RAB40AL), mRNA.
ACCESSION   NM_001031834
VERSION     NM_001031834.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1029)
  AUTHORS   Hiatt SM, Neu MB, Ramaker RC, Hardigan AA, Prokop JW, Hancarova M,
            Prchalova D, Havlovicova M, Prchal J, Stranecky V, Yim DKC, Powis Z,
            Keren B, Nava C, Mignot C, Rio M, Revah-Politi A, Hemati P, Stong N,
            Iglesias AD, Suchy SF, Willaert R, Wentzensen IM, Wheeler PG, Brick
            L, Kozenko M, Hurst ACE, Wheless JW, Lacassie Y, Myers RM, Barsh GS,
            Sedlacek Z and Cooper GM.
  TITLE     De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like
            small GTPase, cause intellectual disability and developmental delay
  JOURNAL   PLoS Genet 14 (11), e1007671 (2018)
   PUBMED   30500825
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1029)
  AUTHORS   Oldak M, Ruszkowska E, Pollak A, Sobczyk-Kopciol A, Kowalewski C,
            Piwonska A, Drygas W and Ploski R.
  TITLE     A note of caution on the diagnosis of Martin-Probst syndrome by the
            detection of the p.D59G mutation in the RAB40AL gene
  JOURNAL   Eur J Pediatr 174 (5), 693-696 (2015)
   PUBMED   25370018
  REMARK    GeneRIF: Our findings are inconsistent with a causative effect of
            RAB40AL p.D59G on cognitive impairment combined with severe to
            profound bilateral hearing loss but indicate that p.D59G is a common
            genetic variation.
REFERENCE   3  (bases 1 to 1029)
  AUTHORS   Oldak M, Sciezynska A, Mlynarski W, Borowiec M, Ruszkowska E,
            Szulborski K, Pollak A, Kosinska J, Mueller-Malesinska M, Stawinski
            P, Szaflik JP and Ploski R.
  TITLE     Evidence against RAB40AL being the locus for Martin-Probst X-linked
            deafness-intellectual disability syndrome
  JOURNAL   Hum Mutat 35 (10), 1171-1174 (2014)
   PUBMED   25044830
  REMARK    GeneRIF: Data question the role of RAB40AL mutation as a
            disease-causing change and the involvement of RAB40AL in
            Martin-Probst syndrome.
REFERENCE   4  (bases 1 to 1029)
  AUTHORS   Lee J, Wong S and Boles RG.
  TITLE     Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with
            mental retardation, sensorineural hearing loss, and anomalies of the
            craniofacies and genitourinary tract: a second case report
  JOURNAL   Eur J Pediatr 173 (7), 967-969 (2014)
   PUBMED   24863632
  REMARK    GeneRIF: We herein present an unrelated 20-year-old male with
            similar manifestations also with p.D59G in the RAB40AL gene, which
            supports the existence of this condition previously coined as
            Martin-Probst syndrome
REFERENCE   5  (bases 1 to 1029)
  AUTHORS   Bedoyan JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty AC, Durham
            M, Micucci JA, Dhiraaj A, Skidmore JM, Kaplan JB, Skinner C,
            Schwartz CE, Antonellis A, Zwick ME, Cavalcoli JD, Li JZ and Martin
            DM.
  TITLE     Disruption of RAB40AL function leads to Martin--Probst syndrome, a
            rare X-linked multisystem neurodevelopmental human disorder
  JOURNAL   J Med Genet 49 (5), 332-340 (2012)
   PUBMED   22581972
  REMARK    GeneRIF: This is the first study to show that mutation of RAB40AL is
            associated with a human disorder.
REFERENCE   6  (bases 1 to 1029)
  AUTHORS   Saito-Ohara F, Fukuda Y, Ito M, Agarwala KL, Hayashi M, Matsuo M,
            Imoto I, Yamakawa K, Nakamura Y and Inazawa J.
  TITLE     The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase
            gene in a patient with Duchenne muscular dystrophy and profound
            mental retardation
  JOURNAL   Am J Hum Genet 71 (3), 637-645 (2002)
   PUBMED   12145744
REFERENCE   7  (bases 1 to 1029)
  AUTHORS   Kile BT, Schulman BA, Alexander WS, Nicola NA, Martin HM and Hilton
            DJ.
  TITLE     The SOCS box: a tale of destruction and degradation
  JOURNAL   Trends Biochem Sci 27 (5), 235-241 (2002)
   PUBMED   12076535
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC101169.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000218249.7/ ENSP00000218249.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC101172.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 20, 2005 this sequence version replaced XM_208443.5.
            Summary: This gene encodes a member of the Rab40 subfamily of Rab
            small GTP-binding proteins that contains a C-terminal suppressors
            of cytokine signaling box. Disruptions in this gene are associated
            with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010].
FEATURES             Location/Qualifiers
     source          1..1029
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     gene            1..1029
                     /gene="RAB40AL"
                     /gene_synonym="MRXSMP; RAR2; RLGP"
                     /note="RAB40A like"
                     /db_xref="GeneID:282808"
                     /db_xref="HGNC:HGNC:25410"
                     /db_xref="MIM:300405"
     CDS             48..884
                     /gene="RAB40AL"
                     /gene_synonym="MRXSMP; RAR2; RLGP"
                     /note="Ras like GTPase; SOCS box containing protein RAR2;
                     ras-like GTPase; RAB40A, member RAS oncogene family-like"
                     /codon_start=1
                     /product="ras-related protein Rab-40A-like"
                     /protein_id="NP_001027004.1"
                     /db_xref="CCDS:CCDS35353.1"
                     /db_xref="GeneID:282808"
                     /db_xref="HGNC:HGNC:25410"
                     /db_xref="MIM:300405"
                     /translation="MSAPGSPDQAYDFLLKFLLVGDRDVGKSEILESLQDGTAESPYSH
                     LGGIDYKTTTILLDGQRVKLKLWDTSGQGRFCTIFRSYSRGAQGVILVYDIANRWSFEG
                     MDRWIKKIEEHAPGVPKILVGNRLHLAFKRQVPREQAQAYAERLGVTFFEVSPLCNFNI
                     IESFTELARIVLLRHRLNWLGRPSKVLSLQDLCCRTIVSCTPVHLVDKLPLPIALRSHL
                     KSFSMAKGLNARMMRGLSYSLTTSSTHKRSSLCKVKIVCPPQSPPKNCTRNSCKIS"
ORIGIN
        1 cgcacaacct tgctggtctg gcccaggcgg ggggcggggc cagcacgatg agcgccccgg
       61 gcagccccga ccaggcctac gacttcctgc tcaagttcct gctggtgggc gacagggacg
      121 taggcaagag tgagatcctg gagagcctgc aggacggcac ggccgagtcc ccgtacagtc
      181 acctgggggg aatcgactac aagacgacca ccatcctgct ggacggccag cgggtgaagc
      241 tgaagctctg ggatacgtcg gggcagggaa gattttgtac catattccgc tcctactctc
      301 gtggtgcaca aggagtgatc ctggtctacg acattgcaaa ccgctggtct ttcgagggta
      361 tggatcgatg gattaagaag attgaggaac atgcccctgg tgtccctaaa atcctggtgg
      421 ggaatcgcct acatctggca ttcaagaggc aggtgcccag ggagcaggcc caggcctacg
      481 ccgagcgcct gggcgtgacc ttctttgagg tcagccctct gtgcaatttc aacatcatag
      541 agtctttcac ggagctggcc aggatagtgc tgctgcggca caggttgaac tggctcggga
      601 ggccgagcaa ggtactgagc ttgcaagacc tctgctgccg caccatcgtg tcctgcacac
      661 ctgtgcatct ggtggacaag ctcccgctcc ccattgcctt aagaagccac ctcaagtcct
      721 tctccatggc taagggcctg aatgccagga tgatgcgagg cctctcctac tccctcacca
      781 ccagctccac tcacaaaagg agcagcctct gcaaagtgaa gatcgtctgc ccaccccaga
      841 gcccacccaa aaactgcacc agaaacagct gcaaaatttc ttaaggaagg caccaaaagg
      901 aaacaagctg gaatcgctcc aggaaaaact ctgaatggtt acacctggaa gagggaagat
      961 gcattctaga ttcaaagaaa tacgttttca gtttctcatg ggaacaatgc tgcttgggaa
     1021 tgtgtgtga
//
LOCUS       NM_001031836            3692 bp    mRNA    linear   PRI 11-JAN-2023
DEFINITION  Homo sapiens potassium calcium-activated channel subfamily U member
            1 (KCNU1), transcript variant 1, mRNA.
ACCESSION   NM_001031836
VERSION     NM_001031836.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3692)
  AUTHORS   Liu R, Yan Z, Fan Y, Qu R, Chen B, Li B, Wu L, Wu H, Mu J, Zhao L,
            Wang W, Dong J, Zeng Y, Li Q, Wang L, Sang Q, Zhang Z and Kuang Y.
  TITLE     Bi-allelic variants in KCNU1 cause impaired acrosome reactions and
            male infertility
  JOURNAL   Hum Reprod 37 (7), 1394-1405 (2022)
   PUBMED   35551387
  REMARK    GeneRIF: Bi-allelic variants in KCNU1 cause impaired acrosome
            reactions and male infertility.
REFERENCE   2  (bases 1 to 3692)
  AUTHORS   Lv M, Liu C, Ma C, Yu H, Shao Z, Gao Y, Liu Y, Wu H, Tang D, Tan Q,
            Zhang J, Li K, Xu C, Geng H, Zhang J, Li H, Mao X, Ge L, Fu F, Zhong
            K, Xu Y, Tao F, Zhou P, Wei Z, He X, Zhang F and Cao Y.
  TITLE     Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia
            due to acrosome hypoplasia and mitochondrial sheath malformations
  JOURNAL   Reprod Biol Endocrinol 20 (1), 5 (2022)
   PUBMED   34980136
  REMARK    GeneRIF: Homozygous mutation in SLO3 leads to severe
            asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial
            sheath malformations. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3692)
  AUTHORS   Geng Y, Ferreira JJ, Dzikunu V, Butler A, Lybaert P, Yuan P, Magleby
            KL, Salkoff L and Santi CM.
  TITLE     A genetic variant of the sperm-specific SLO3 K+ channel has altered
            pH and Ca2+ sensitivities
  JOURNAL   J Biol Chem 292 (21), 8978-8987 (2017)
   PUBMED   28377504
  REMARK    GeneRIF: results suggest that sperm-specific genes can evolve
            rapidly and that natural genetic variation may have led to a SLO3
            variant that differs from wild type in both pH and intracellular
            Ca(2+) sensitivities.
REFERENCE   4  (bases 1 to 3692)
  AUTHORS   Zeng XH, Yang C, Xia XM, Liu M and Lingle CJ.
  TITLE     SLO3 auxiliary subunit LRRC52 controls gating of sperm KSPER
            currents and is critical for normal fertility
  JOURNAL   Proc Natl Acad Sci U S A 112 (8), 2599-2604 (2015)
   PUBMED   25675513
REFERENCE   5  (bases 1 to 3692)
  AUTHORS   Brenker C, Zhou Y, Muller A, Echeverry FA, Trotschel C, Poetsch A,
            Xia XM, Bonigk W, Lingle CJ, Kaupp UB and Strunker T.
  TITLE     The Ca2+-activated K+ current of human sperm is mediated by Slo3
  JOURNAL   Elife 3, e01438 (2014)
   PUBMED   24670955
  REMARK    GeneRIF: The authors conclude that Slo3 represents the principal
            K(+) channel in human sperm that carries the Ca(2+)-activated IKSper
            current. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3692)
  AUTHORS   Leonetti MD, Yuan P, Hsiung Y and Mackinnon R.
  TITLE     Functional and structural analysis of the human SLO3 pH- and
            voltage-gated K+ channel
  JOURNAL   Proc Natl Acad Sci U S A 109 (47), 19274-19279 (2012)
   PUBMED   23129643
  REMARK    GeneRIF: These results present insights into the function of a
            protein expected to be critical for human reproduction and provide a
            framework to study the mechanism of pH gating in SLO3 channels.
REFERENCE   7  (bases 1 to 3692)
  AUTHORS   Nusbaum C, Mikkelsen TS, Zody MC, Asakawa S, Taudien S, Garber M,
            Kodira CD, Schueler MG, Shimizu A, Whittaker CA, Chang JL, Cuomo CA,
            Dewar K, FitzGerald MG, Yang X, Allen NR, Anderson S, Asakawa T,
            Blechschmidt K, Bloom T, Borowsky ML, Butler J, Cook A, Corum B,
            DeArellano K, DeCaprio D, Dooley KT, Dorris L 3rd, Engels R,
            Glockner G, Hafez N, Hagopian DS, Hall JL, Ishikawa SK, Jaffe DB,
            Kamat A, Kudoh J, Lehmann R, Lokitsang T, Macdonald P, Major JE,
            Matthews CD, Mauceli E, Menzel U, Mihalev AH, Minoshima S, Murayama
            Y, Naylor JW, Nicol R, Nguyen C, O'Leary SB, O'Neill K, Parker SC,
            Polley A, Raymond CK, Reichwald K, Rodriguez J, Sasaki T, Schilhabel
            M, Siddiqui R, Smith CL, Sneddon TP, Talamas JA, Tenzin P, Topham K,
            Venkataraman V, Wen G, Yamazaki S, Young SK, Zeng Q, Zimmer AR,
            Rosenthal A, Birren BW, Platzer M, Shimizu N and Lander ES.
  TITLE     DNA sequence and analysis of human chromosome 8
  JOURNAL   Nature 439 (7074), 331-335 (2006)
   PUBMED   16421571
REFERENCE   8  (bases 1 to 3692)
  AUTHORS   Wei AD, Gutman GA, Aldrich R, Chandy KG, Grissmer S and Wulff H.
  TITLE     International Union of Pharmacology. LII. Nomenclature and molecular
            relationships of calcium-activated potassium channels
  JOURNAL   Pharmacol Rev 57 (4), 463-472 (2005)
   PUBMED   16382103
  REMARK    Review article
REFERENCE   9  (bases 1 to 3692)
  AUTHORS   Schreiber M, Wei A, Yuan A, Gaut J, Saito M and Salkoff L.
  TITLE     Slo3, a novel pH-sensitive K+ channel from mammalian spermatocytes
  JOURNAL   J Biol Chem 273 (6), 3509-3516 (1998)
   PUBMED   9452476
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK302391.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000399881.8/ ENSP00000382770.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC401954.1, BC028701.2,
            AC124076.5 and AC138136.2.
            On Nov 22, 2018 this sequence version replaced NM_001031836.2.
            Summary: This gene encodes a member of the potassium channel family
            of proteins. The encoded voltage-gated ion channel allows the
            outward flow of potassium ions during plasma membrane
            hyperpolarization in sperm. Opening of this channel may be
            regulated by calcium ion levels. Homozygous knockout mice that lack
            the related mouse gene exhibit male sterility. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Dec
            2015].
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3692
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.23"
     gene            1..3692
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="potassium calcium-activated channel subfamily U
                     member 1"
                     /db_xref="GeneID:157855"
                     /db_xref="HGNC:HGNC:18867"
                     /db_xref="MIM:615215"
     CDS             38..3487
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="Slowpoke homolog 3; potassium channel, subfamily U,
                     member 1; Calcium-activated potassium channel subunit
                     alpha-3; Calcium-activated potassium channel, subfamily M
                     subunit alpha-3"
                     /codon_start=1
                     /product="potassium channel subfamily U member 1"
                     /protein_id="NP_001027006.2"
                     /db_xref="CCDS:CCDS55220.1"
                     /db_xref="GeneID:157855"
                     /db_xref="HGNC:HGNC:18867"
                     /db_xref="MIM:615215"
                     /translation="MFQTKLRNETWEDLPKMSCTTEIQAAFILSSFVTFFSGLIILLIF
                     RLIWRSVKKWQIIKGTGIILELFTSGTIARSHVRSLHFQGQFRDHIEMLLSAQTFVGQV
                     LVILVFVLSIGSLIIYFINSADPVGSCSSYEDKTIPIDLVFNAFFSFYFGLRFMAADDK
                     IKFWLEMNSIVDIFTIPPTFISYYLKSNWLGLRFLRALRLLELPQILQILRAIKTSNSV
                     KFSKLLSIILSTWFTAAGFIHLVENSGDPWLKGRNSQNISYFESIYLVMATTSTVGFGD
                     VVAKTSLGRTFIMFFTLGSLILFANYIPEMVELFANKRKYTSSYEALKGKKFIVVCGNI
                     TVDSVTAFLRNFLRDKSGEINTEIVFLGETPPSLELETIFKCYLAYTTFISGSAMKWED
                     LRRVAVESAEACLIIANPLCSDSHAEDISNIMRVLSIKNYDSTTRIIIQILQSHNKVYL
                     PKIPSWNWDTGDNIICFAELKLGFIAQGCLVPGLCTFLTSLFVEQNKKVMPKQTWKKHF
                     LNSMKNKILTQRLSDDFAGMSFPEVARLCFLKMHLLLIAIEYKSLFTDGFCGLILNPPP
                     QVRIRKNTLGFFIAETPKDVRRALFYCSVCHDDVFIPELITNCGCKSRSRQHITVPSVK
                     RMKKCLKGISSRISGQDSPPRVSASTSSISNFTTRTLQHDVEQDSDQLDSSGMFHWCKP
                     TSLDKVTLKRTGKSKYKFRNHIVACVFGDAHSAPMGLRNFVMPLRASNYTRKELKDIVF
                     IGSLDYLQREWRFLWNFPQIYILPGCALYSGDLHAANIEQCSMCAVLSPPPQPSSNQTL
                     VDTEAIMATLTIGSLQIDSSSDPSPSVSEETPGYTNGHNEKSNCRKVPILTELKNPSNI
                     HFIEQLGGLEGSLQETNLHLSTAFSTGTVFSGSFLDSLLATAFYNYHVLELLQMLVTGG
                     VSSQLEQHLDKDKVYGVADSCTSLLSGRNRCKLGLLSLHETILSDVNPRNTFGQLFCGS
                     LDLFGILCVGLYRIIDEEELNPENKRFVITRPANEFKLLPSDLVFCAIPFSTACYKRNE
                     EFSLQKSYEIVNKASQTTETHSDTNCPPTIDSVTETLYSPVYSYQPRTNSLSFPKQIAW
                     NQSRTNSIISSQIPLGDNAKENERKTSDEVYDEDPFAYSEPL"
     misc_feature    110..172
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MYU2.2);
                     transmembrane region"
     misc_feature    341..403
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MYU2.2);
                     transmembrane region"
     misc_feature    452..514
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MYU2.2);
                     transmembrane region"
     misc_feature    527..589
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MYU2.2);
                     transmembrane region"
     misc_feature    602..664
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MYU2.2);
                     transmembrane region"
     misc_feature    716..778
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MYU2.2);
                     transmembrane region"
     misc_feature    863..874
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MYU2.2);
                     Region: Selectivity for potassium"
     misc_feature    911..973
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MYU2.2);
                     transmembrane region"
     misc_feature    1475..1537
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MYU2.2);
                     Region: Segment S7"
     misc_feature    1646..1708
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MYU2.2);
                     Region: Segment S8"
     misc_feature    2168..2230
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MYU2.2);
                     Region: Segment S9"
     misc_feature    2519..2599
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MYU2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2720..2782
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MYU2.2);
                     Region: Segment S10"
     misc_feature    3389..3484
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MYU2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3676..3681
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="hexamer: AAGAAA"
     polyA_site      3692
                     /gene="KCNU1"
                     /gene_synonym="KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79"
                     /note="major polyA site"
ORIGIN
        1 aaatgacctg gcaattccgt ctactgatgt ctcgaacatg tttcagacta agctacgaaa
       61 tgaaacttgg gaagacttgc caaaaatgtc ctgcacaact gagatccaag cagcattcat
      121 tctctcttcc tttgtgacct tcttcagtgg actcatcatc ctgttgatct tcaggctgat
      181 ctggagatct gttaaaaaat ggcaaatcat caagggaaca ggaattatct tggaactgtt
      241 cacatcaggt accatcgcta ggagccatgt aagaagcctc cacttccagg gacaatttcg
      301 tgatcatata gaaatgttgc tttcagccca gacctttgtg gggcaagtgt tggtgatcct
      361 tgtctttgta ctaagcattg ggtctcttat aatctatttc atcaattctg ctgaccctgt
      421 tggaagctgt tcatcatatg aagacaaaac cattcctatt gatttggttt tcaatgcttt
      481 ctttagtttc tattttggat tgaggtttat ggcagctgat gacaagatca agttctggct
      541 ggagatgaat tcaatcgtag acatctttac catcccacca acctttattt cttattattt
      601 gaagagcaat tggctaggtt taaggttcct aagagccttg cgcctgctag aactccctca
      661 aatcttgcaa attctacgag ccatcaagac cagtaactca gtgaagtttt ccaaactgct
      721 gtcaataatt ctcagtacct ggttcacagc tgcgggattc attcacctgg tggaaaattc
      781 tggtgatccc tggctcaaag gtagaaattc acagaatata tcatattttg agtcaattta
      841 cctggtcatg gcaacaacgt caaccgttgg atttggagat gtggtagcca agacatcctt
      901 aggacggacc ttcatcatgt tcttcacact ggggagtttg atattatttg cgaactatat
      961 acctgaaatg gtggaactgt ttgctaacaa gaggaaatac accagttcct atgaagcact
     1021 caaaggaaag aagtttattg tggtctgtgg aaacatcact gtggacagtg tgaccgcttt
     1081 cctgaggaat ttcctccgcg acaagtcagg agagatcaac actgaaattg ttttcctggg
     1141 agaaacccct ccttctttgg aacttgaaac catatttaaa tgctacttgg cctacacaac
     1201 gttcatttct ggatctgcaa tgaagtggga ggatctgagg cgagttgcgg tggaatctgc
     1261 agaggcatgc ctgattatag ccaatccttt gtgcagtgat tcccatgctg aagatatttc
     1321 caacattatg agggtgctct ctatcaagaa ctatgattct accaccagaa tcatcataca
     1381 gatactgcaa tcccataaca aggtttatct gccaaagatt cccagctgga actgggacac
     1441 cggagacaac atcatctgct ttgctgaatt aaaacttgga tttatcgccc aaggctgttt
     1501 ggtgccaggc ttgtgtacct tcctaacatc tctatttgtg gagcaaaaca aaaaggttat
     1561 gcctaaacag acctggaaga aacacttctt gaatagcatg aaaaacaaaa ttctgaccca
     1621 acgtctctct gatgactttg ctggaatgag ctttcctgaa gttgcccggc tctgctttct
     1681 gaagatgcac ctcctgttga tagccatcga atacaagtcc ctctttacgg atggtttctg
     1741 tggtctgata ctaaatccac ctccacaagt gaggatacgt aagaacacat tagggttctt
     1801 tattgctgaa actccaaagg acgtcagaag agccttgttt tactgttcag tctgtcatga
     1861 tgatgtgttc attcctgagc taattacaaa ctgtggctgc aaaagcagaa gccggcagca
     1921 catcacagtg ccatcggtaa agagaatgaa aaaatgtctg aagggaatct cctctcgtat
     1981 atcagggcag gattctccgc caagggtatc tgcaagcact tcgagcatat caaacttcac
     2041 caccaggact cttcaacatg atgtagaaca agattctgac cagcttgata gcagtgggat
     2101 gtttcactgg tgcaaaccaa cctctttgga caaggtgact ctgaaacgaa ctggcaagtc
     2161 aaagtataag tttcggaacc atattgtagc atgtgtattt ggagatgccc actcagcccc
     2221 gatggggctt cggaactttg taatgccctt gagagccagc aactatacca ggaaggagct
     2281 gaaggacata gtgttcattg ggtctctgga ctatctacag agagaatggc gatttctctg
     2341 gaattttccc cagatataca ttctgcctgg atgtgcactt tattctggag acctccatgc
     2401 ggccaacata gagcaatgct ccatgtgtgc tgtcttgtcc cccccacccc agccatcaag
     2461 caaccagact ttggtagaca cagaagccat catggcaacc ctcaccatcg gatccttgca
     2521 aattgactcc tcctctgacc cgtcaccctc agtgtcagag gagactccag gttacacaaa
     2581 tggacataat gagaaatcaa actgccgaaa agtccctatc cttactgaac tgaaaaatcc
     2641 ttccaacatt cactttattg aacagcttgg tggactggaa gggtccctcc aagaaacaaa
     2701 tctgcatctc agcactgcct tttctacggg cactgttttt tccggcagct tcttggattc
     2761 tctgctggcc acggccttct acaattatca tgtcctggaa ttgcttcaga tgctggtgac
     2821 aggaggagta agttctcagc tggaacaaca tttagataag gataaagtct atggtgtggc
     2881 agatagctgc acgtcgctct tgtctggaag aaaccggtgt aagctggggc ttctgtcctt
     2941 acacgaaacc attttatcag acgttaatcc aagaaacacc tttggacaac tgttctgtgg
     3001 ctcattagat ctttttggaa tcctgtgtgt tggcttatac cgaataattg atgaagagga
     3061 gctcaaccca gaaaacaaaa ggtttgtgat cacccggcca gccaatgagt tcaagctgct
     3121 gccttcagat cttgtgtttt gtgccatacc cttcagcact gcttgttata aaaggaatga
     3181 agagttctca ttgcaaaagt catatgaaat tgtaaataaa gcatcacaga caacagagac
     3241 acattcagac acaaattgtc ctcccaccat tgattcagtt actgagacat tgtattcacc
     3301 agtctattct taccagccga gaactaactc cctctctttt cctaagcaaa tagcatggaa
     3361 tcagagtaga acaaacagta ttatatcatc tcagatacct ttaggtgaca atgcaaaaga
     3421 aaatgaaagg aaaacttcag atgaggttta tgatgaggat ccctttgcat attcagagcc
     3481 actatagacc tgcccatatt cttcacgtgc tcttaacttg ctgcttacaa atcatctcct
     3541 gagatgctaa ctttgaacaa agaaaataag aatggaagca tgccattttt ctgcccattg
     3601 cttagtggtt catgaaggcc acactgtttt gggtgagaca aaagtctaat gccactggat
     3661 cttgtgtgat aaataaagaa atatatgatc aa
//
LOCUS       NM_001031850            1703 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6),
            transcript variant 2, mRNA.
ACCESSION   NM_001031850
VERSION     NM_001031850.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1703)
  AUTHORS   Teglund S, Zhou GQ and Hammarstrom S.
  TITLE     Characterization of cDNA encoding novel pregnancy-specific
            glycoprotein variants
  JOURNAL   Biochem Biophys Res Commun 211 (2), 656-664 (1995)
   PUBMED   7794280
REFERENCE   2  (bases 1 to 1703)
  AUTHORS   Teglund S, Olsen A, Khan WN, Frangsmyr L and Hammarstrom S.
  TITLE     The pregnancy-specific glycoprotein (PSG) gene cluster on human
            chromosome 19: fine structure of the 11 PSG genes and identification
            of 6 new genes forming a third subgroup within the carcinoembryonic
            antigen (CEA) family
  JOURNAL   Genomics 23 (3), 669-684 (1994)
   PUBMED   7851896
REFERENCE   3  (bases 1 to 1703)
  AUTHORS   Olsen A, Teglund S, Nelson D, Gordon L, Copeland A, Georgescu A,
            Carrano A and Hammarstrom S.
  TITLE     Gene organization of the pregnancy-specific glycoprotein region on
            human chromosome 19: assembly and analysis of a 700-kb cosmid contig
            spanning the region
  JOURNAL   Genomics 23 (3), 659-668 (1994)
   PUBMED   7851895
REFERENCE   4  (bases 1 to 1703)
  AUTHORS   Chamberlin ME, Lei KJ and Chou JY.
  TITLE     Subtle differences in human pregnancy-specific glycoprotein gene
            promoters allow for differential expression
  JOURNAL   J Biol Chem 269 (25), 17152-17159 (1994)
   PUBMED   8006022
REFERENCE   5  (bases 1 to 1703)
  AUTHORS   Barnett TR, Pickle W 2nd and Elting JJ.
  TITLE     Characterization of two new members of the pregnancy-specific beta
            1-glycoprotein family from the myeloid cell line KG-1 and suggestion
            of two distinct classes of transcription unit
  JOURNAL   Biochemistry 29 (44), 10213-10218 (1990)
   PUBMED   2271648
REFERENCE   6  (bases 1 to 1703)
  AUTHORS   Leslie KK, Watanabe S, Lei KJ, Chou DY, Plouzek CA, Deng HC, Torres
            J and Chou JY.
  TITLE     Linkage of two human pregnancy-specific beta 1-glycoprotein genes:
            one is associated with hydatidiform mole
  JOURNAL   Proc Natl Acad Sci U S A 87 (15), 5822-5826 (1990)
   PUBMED   2377620
REFERENCE   7  (bases 1 to 1703)
  AUTHORS   Zheng QX, Tease LA, Shupert WL and Chan WY.
  TITLE     Characterization of cDNAs of the human pregnancy-specific beta
            1-glycoprotein family, a new subfamily of the immunoglobulin gene
            superfamily
  JOURNAL   Biochemistry 29 (11), 2845-2852 (1990)
   PUBMED   2346748
REFERENCE   8  (bases 1 to 1703)
  AUTHORS   Thompson J, Koumari R, Wagner K, Barnert S, Schleussner C, Schrewe
            H, Zimmermann W, Muller G, Schempp W, Zaninetta D et al.
  TITLE     The human pregnancy-specific glycoprotein genes are tightly linked
            on the long arm of chromosome 19 and are coordinately expressed
  JOURNAL   Biochem Biophys Res Commun 167 (2), 848-859 (1990)
   PUBMED   1690992
  REMARK    Erratum:[Biochem Biophys Res Commun 1990 May 16;168(3):1325]
REFERENCE   9  (bases 1 to 1703)
  AUTHORS   Zimmermann W, Weiss M and Thompson JA.
  TITLE     cDNA cloning demonstrates the expression of pregnancy-specific
            glycoprotein genes, a subgroup of the carcinoembryonic antigen gene
            family, in fetal liver
  JOURNAL   Biochem Biophys Res Commun 163 (3), 1197-1209 (1989)
   PUBMED   2783133
REFERENCE   10  (bases 1 to 1703)
  AUTHORS   Thompson JA, Mauch EM, Chen FS, Hinoda Y, Schrewe H, Berling B,
            Barnert S, von Kleist S, Shively JE and Zimmermann W.
  TITLE     Analysis of the size of the carcinoembryonic antigen (CEA) gene
            family: isolation and sequencing of N-terminal domain exons
  JOURNAL   Biochem Biophys Res Commun 158 (3), 996-1004 (1989)
   PUBMED   2537643
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279824.6288.1, ERR279861.2072.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2162568
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000187910.7/ ENSP00000187910.3
            RefSeq Select criteria      :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA833634.1, BC020652.1 and
            AI148792.1.
            On Jun 2, 2019 this sequence version replaced NM_001031850.3.
            Summary: This gene is a member of the pregnancy-specific
            glycoprotein (PSG) gene family. The PSG genes are a subgroup of the
            carcinoembryonic antigen (CEA) family of immunoglobulin-like genes,
            and are found in a gene cluster at 19q13.1-q13.2 telomeric to
            another cluster of CEA-related genes. The PSG genes are expressed
            by placental trophoblasts and released into the maternal
            circulation during pregnancy, and are thought to be essential for
            maintenance of normal pregnancy. The protein encoded by this gene
            contains the Arg-Gly-Asp tripeptide associated with cellular
            adhesion and recognition. Alternative splicing results in multiple
            transcript variants and protein isoforms. [provided by RefSeq, Jul
            2012].
            Transcript Variant: This variant (2) contains an alternate 3'
            terminal exon, compared to variant 1. The resulting protein
            (isoform 2) is shorter and has a distinct C-terminus, compared to
            isoform 1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1703
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.31"
     gene            1..1703
                     /gene="PSG6"
                     /gene_synonym="PSBG-10; PSBG-12; PSBG-6; PSG10; PSGGB"
                     /note="pregnancy specific beta-1-glycoprotein 6"
                     /db_xref="GeneID:5675"
                     /db_xref="HGNC:HGNC:9523"
                     /db_xref="MIM:176395"
     CDS             103..1377
                     /gene="PSG6"
                     /gene_synonym="PSBG-10; PSBG-12; PSBG-6; PSG10; PSGGB"
                     /note="isoform b precursor is encoded by transcript variant
                     2; pregnancy-specific beta-1-glycoprotein 10; PS-beta-G-6;
                     PS-beta-G-10; PS-beta-G-12; pregnancy-specific
                     beta-1-glycoprotein 12"
                     /codon_start=1
                     /product="pregnancy-specific beta-1-glycoprotein 6 isoform
                     b precursor"
                     /protein_id="NP_001027020.1"
                     /db_xref="CCDS:CCDS33038.1"
                     /db_xref="GeneID:5675"
                     /db_xref="HGNC:HGNC:9523"
                     /db_xref="MIM:176395"
                     /translation="MGPLSAPPCTQHITWKGLLLTASLLNFWNLPTTAQVIIEAKPPKV
                     SEGKDVLLLVHNLPQNLTGYIWYKGQMTDLYHYITSYVVHGQIIYGPAYSGRETVYSNA
                     SLLIQNVTQEDAGSYTLHIIKRGDGTGGVTGYFTVTLYSETPKPSISSSNLNPREVMEA
                     VRLICDPETPDASYLWLLNGQNLPMTHRLQLSKTNRTLYLFGVTKYIAGPYECEIRNPV
                     SASRSDPVTLNLLPKLPMPYITINNLNPREKKDVLAFTCEPKSRNYTYIWWLNGQSLPV
                     SPRVKRPIENRILILPSVTRNETGPYQCEIRDRYGGIRSNPVTLNVLYGPDLPRIYPSF
                     TYYRSGENLDLSCFADSNPPAEYSWTINGKFQLSGQKLFIPQITTNHSGLYACSVRNSA
                     TGKEISKSMIVKVSGPCHGNQTESH"
     sig_peptide     103..204
                     /gene="PSG6"
                     /gene_synonym="PSBG-10; PSBG-12; PSBG-6; PSG10; PSGGB"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     208..1374
                     /gene="PSG6"
                     /gene_synonym="PSBG-10; PSBG-12; PSBG-6; PSG10; PSGGB"
                     /product="pregnancy-specific beta-1-glycoprotein 6 isoform
                     b"
     misc_feature    283..285
                     /gene="PSG6"
                     /gene_synonym="PSBG-10; PSBG-12; PSBG-6; PSG10; PSGGB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q00889.1); glycosylation site"
     misc_feature    409..411
                     /gene="PSG6"
                     /gene_synonym="PSBG-10; PSBG-12; PSBG-6; PSG10; PSGGB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q00889.1); glycosylation site"
     misc_feature    430..432
                     /gene="PSG6"
                     /gene_synonym="PSBG-10; PSBG-12; PSBG-6; PSG10; PSGGB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q00889.1); glycosylation site"
     misc_feature    478..486
                     /gene="PSG6"
                     /gene_synonym="PSBG-10; PSBG-12; PSBG-6; PSG10; PSGGB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00889.1);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    694..696
                     /gene="PSG6"
                     /gene_synonym="PSBG-10; PSBG-12; PSBG-6; PSG10; PSGGB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q00889.1); glycosylation site"
     misc_feature    901..903
                     /gene="PSG6"
                     /gene_synonym="PSBG-10; PSBG-12; PSBG-6; PSG10; PSGGB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q00889.1); glycosylation site"
     misc_feature    1006..1008
                     /gene="PSG6"
                     /gene_synonym="PSBG-10; PSBG-12; PSBG-6; PSG10; PSGGB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q00889.1); glycosylation site"
     misc_feature    1258..1260
                     /gene="PSG6"
                     /gene_synonym="PSBG-10; PSBG-12; PSBG-6; PSG10; PSGGB"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q00889.1); glycosylation site"
     regulatory      1680..1685
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSG6"
                     /gene_synonym="PSBG-10; PSBG-12; PSBG-6; PSG10; PSGGB"
                     /note="hexamer: AATAAA"
     polyA_site      1703
                     /gene="PSG6"
                     /gene_synonym="PSBG-10; PSBG-12; PSBG-6; PSG10; PSGGB"
                     /note="major polyA site"
ORIGIN
        1 agcacagaag gaggaaggac agcacacctg acagccctgc tcaggaagtc tctggatcct
       61 aggctcatct ccacagggga gaacacacag acagcagaga ccatgggacc cctctcagcc
      121 cctccctgca ctcagcacat cacctggaag gggctcctgc tcacagcatc acttttaaac
      181 ttctggaacc tgcccaccac tgcccaagta ataattgaag ccaagccacc caaagtttcc
      241 gaggggaagg atgttcttct acttgtccac aatttgcccc agaatcttac tggctacatc
      301 tggtacaaag ggcaaatgac ggacctctac cattacatta catcatatgt agtacacggt
      361 caaattatat atgggcctgc ctacagtgga cgagaaacag tatattccaa tgcatccctg
      421 ctgatccaga atgtcacaca ggaggatgca ggatcctaca ccttacacat cataaagcga
      481 ggcgatggga ctggaggagt aactggatat ttcactgtca ccttatactc ggagactccc
      541 aagccctcca tctccagcag caacttaaac cccagggagg tcatggaggc tgtgcgctta
      601 atctgtgatc ctgagactcc ggatgcaagc tacctgtggt tgctgaatgg tcagaacctc
      661 cctatgactc acaggttgca gctgtccaaa accaacagga ccctctatct atttggtgtc
      721 acaaagtata ttgcaggacc ctatgaatgt gaaatacgga acccagtgag tgccagccgc
      781 agtgacccag tcaccctgaa tctcctcccg aagctgccca tgccttacat caccatcaac
      841 aacttaaacc ccagggagaa gaaggatgtg ttagccttca cctgtgaacc taagagtcgg
      901 aactacacct acatttggtg gctaaatggt cagagcctcc cggtcagtcc gagggtaaag
      961 cgacccattg aaaacaggat actcattcta cccagtgtca cgagaaatga aacaggaccc
     1021 tatcaatgtg aaatacggga ccgatatggt ggcatccgca gtaacccagt caccctgaat
     1081 gtcctctatg gtccagacct ccccagaatt tacccttcat tcacctatta ccgttcagga
     1141 gaaaacctcg acttgtcctg ctttgcggac tctaacccac cggcagagta ttcttggaca
     1201 attaatggga agtttcagct atcaggacaa aagctcttta tcccccaaat tactacaaat
     1261 catagcgggc tctatgcttg ctctgttcgt aactcagcca ctggcaagga aatctccaaa
     1321 tccatgatag tcaaagtctc tggtccctgc catggaaacc agacagagtc tcattaatgg
     1381 ctgccacaat agagacactg agaaaaagaa caggttgata ccttcatgaa attcaagaca
     1441 aagaagaaaa aaactcaatg ttattggact aaataatcaa aaggataatg ttttcataat
     1501 tttttattgg aaaatgtgct gattcttgga atgttttatt ctccagattt atgaactttt
     1561 tttcttcagc aattggtaaa gtatactttt gtaaacaaaa attgaaacat ttgcttttgc
     1621 tctctatctg agtgccccag aattgggaaa ctattcatga gtattcatag gtttatggta
     1681 ataaagttat ttgcacaagt tca
//
LOCUS       NM_001031854            1820 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog
            (inactive) like (ACCSL), transcript variant 1, mRNA.
ACCESSION   NM_001031854
VERSION     NM_001031854.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1820)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (bases 1 to 1820)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz
            TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha
            SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA,
            McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley
            KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM,
            Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan
            A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko
            Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC,
            Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS,
            Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones
            SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB231734.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968968
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378832.1/ ENSP00000368109.1
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC134775.8, AB231734.1, AB231732.1, AB231733.1 and DW009984.1.
            On Jun 28, 2007 this sequence version replaced NM_001031854.1.
FEATURES             Location/Qualifiers
     source          1..1820
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..1820
                     /gene="ACCSL"
                     /note="1-aminocyclopropane-1-carboxylate synthase homolog
                     (inactive) like"
                     /db_xref="GeneID:390110"
                     /db_xref="HGNC:HGNC:34391"
     CDS             57..1763
                     /gene="ACCSL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     1-aminocyclopropane-1-carboxylate synthase-like protein 2;
                     ACC synthase-like protein 2;
                     1-aminocyclopropane-1-carboxylate synthase (inactive)-like;
                     probable inactive 1-aminocyclopropane-1-carboxylate
                     synthase-like protein 2; 1-aminocyclopropane-1-carboxylate
                     synthase homolog(non-functional)-like"
                     /codon_start=1
                     /product="probable inactive
                     1-aminocyclopropane-1-carboxylate synthase-like protein 2
                     isoform 1"
                     /protein_id="NP_001027025.2"
                     /db_xref="CCDS:CCDS41636.1"
                     /db_xref="GeneID:390110"
                     /db_xref="HGNC:HGNC:34391"
                     /translation="MSHRSDTLPVPSGQRRGRVPRDHSIYTQLLEITLHLQQAMTEHFV
                     QLTSRQGLSLEERRHTEAICEHEALLSRLICRMINLLQSGAASGLELQVPLPSEDSRGD
                     VRYGQRAQLSGQPDPVPQLSDCEAAFVNRDLSIRGIDISVFYQSSFQDYNAYQKDKYHK
                     DKNTLGFINLGTSENKLCMDLMTERLQESDMNCIEDTLLQYPDWRGQPFLREEVARFLT
                     YYCRAPTRLDPENVVVLNGCCSVFCALAMVLCDPGEAFLVPAPFYGGFAFSSRLYAKVE
                     LIPVHLESEVTVTNTHPFQLTVDKLEEALLEARLEGKKVRGLVLINPQNPLGDIYSPDS
                     LMKYLEFAKRYNLHVIIDEIYMLSVFDESITFHSILSMKSLPDSNRTHVIWGTSKDFGI
                     SGFRFGALYTHNKEVASAVSAFGYLHSISGITQHKLCQLLQNTEWIDKVYLPTNCYRLR
                     EAHKYITAELKALEIPFHNRSSGLYVWINLKKYLDPCTFEEERLLYCRFLDNKLLLSRG
                     KTYMCKEPGWFCLIFADELPRLKLAMRRFCDVLQEQKEALIVKQLEDAMRE"
     misc_feature    57..119
                     /gene="ACCSL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4AC99.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 tctctttctc cataggtgcc aggcagcctt cagaggccag taaagatacc cggagtatga
       61 gtcatcggtc agacaccctt cctgtgccct ctggtcagag gagaggccgg gtccccagag
      121 accacagcat ctatacccag ctgttggaga taacgctgca cttgcagcag gccatgacgg
      181 agcacttcgt gcagctgacg agcagacagg gcctgtcgct ggaggaaagg aggcacactg
      241 aggccatctg tgagcatgaa gcccttctga gtcgcttaat atgccggatg atcaacctcc
      301 tacagtctgg ggccgcgagt ggcctggagc tccaagtgcc tcttccttct gaggactcta
      361 ggggtgatgt cagatatggg cagagggccc aactctctgg gcagcctgat ccagttcccc
      421 aactgagtga ttgtgaagct gcctttgtca accgcgacct atccatccgt gggattgaca
      481 tctctgtctt ttatcagtcg agcttccagg actacaatgc ctaccaaaaa gataaatatc
      541 ataaggacaa gaacaccttg ggtttcatta accttggcac cagtgagaac aagctctgca
      601 tggatctgat gactgaaaga ttgcaagaaa gtgacatgaa ctgcattgag gacaccttgc
      661 ttcagtaccc tgattggaga gggcagccat tcctgcggga agaagtggcc cggttcctga
      721 cctactactg cagggcacct acccgacttg acccagaaaa tgtggtggtt ctaaatggct
      781 gctgctctgt cttctgtgcc ctggccatgg ttctgtgtga tccaggcgag gccttcctgg
      841 tccctgctcc cttctatggt ggctttgcct ttagctcccg cctgtatgca aaggttgagt
      901 tgattcctgt ccacctggag agtgaggtca ctgttacaaa cacccatcct ttccagctca
      961 ctgtggacaa gttagaggaa gccctgcttg aagctaggct tgaggggaaa aaggtccgag
     1021 gccttgtgct aatcaaccct cagaatcctc tgggtgacat ctactcccca gactcactga
     1081 tgaaatacct ggaatttgcc aagaggtata acctacatgt gatcatagat gagatttaca
     1141 tgctgtctgt gtttgatgaa tccatcacat tccacagcat tctgagcatg aaaagtttgc
     1201 ctgatagcaa caggacccat gtgatctggg gtaccagtaa ggattttggc atctctggct
     1261 tccgctttgg tgctctgtat acccacaaca aggaggtggc ctctgctgtg agtgcctttg
     1321 gctacctcca cagtatttct ggcatcaccc agcacaagct gtgtcaactg ctccagaaca
     1381 cagaatggat tgacaaagta tacctaccca ccaattgcta ccggctccgg gaagctcaca
     1441 agtacatcac tgctgagctg aaggcattgg agatcccttt tcacaaccgc agctctggcc
     1501 tctatgtctg gatcaacttg aaaaagtacc tggatccctg tacatttgaa gaagaacggc
     1561 tcctctattg ccgcttcctg gacaacaagc tattgttatc ccgtggcaaa acctacatgt
     1621 gtaaggagcc aggctggttc tgcctcatct ttgcagatga gctcccccgg ctaaaattgg
     1681 ctatgcgtcg gttctgtgat gtgctgcagg agcagaagga ggctttgata gtgaagcagt
     1741 tggaggatgc aatgagggag taggccgtct gcctcccaac cagcagttcc agcccatcac
     1801 ttgctcaggg accccctaat
//
LOCUS       NM_001031855            3108 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens LON peptidase N-terminal domain and ring finger 3
            (LONRF3), transcript variant 1, mRNA.
ACCESSION   NM_001031855
VERSION     NM_001031855.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3108)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3108)
  AUTHORS   Miyamoto-Sato E, Fujimori S, Ishizaka M, Hirai N, Masuoka K, Saito
            R, Ozawa Y, Hino K, Washio T, Tomita M, Yamashita T, Oshikubo T,
            Akasaka H, Sugiyama J, Matsumoto Y and Yanagawa H.
  TITLE     A comprehensive resource of interacting protein regions for refining
            human transcription factor networks
  JOURNAL   PLoS One 5 (2), e9289 (2010)
   PUBMED   20195357
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3108)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer
            M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL,
            Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME,
            Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R,
            Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson
            A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler
            DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S,
            Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker
            GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O,
            Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman
            AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P,
            Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel
            L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z,
            Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S,
            Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS,
            Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O,
            Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H,
            Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T,
            Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis
            F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner
            G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R,
            Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S,
            Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume
            J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de
            Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis
            P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK,
            Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM,
            Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J,
            Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl
            P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S,
            Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN,
            Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S,
            Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey
            Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG,
            Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD,
            Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann
            RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K,
            Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M,
            Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry
            GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey
            DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L,
            Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S,
            Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A,
            Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM,
            Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R,
            Hubbard T, Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   4  (bases 1 to 3108)
  AUTHORS   Barrios-Rodiles M, Brown KR, Ozdamar B, Bose R, Liu Z, Donovan RS,
            Shinjo F, Liu Y, Dembowy J, Taylor IW, Luga V, Przulj N, Robinson M,
            Suzuki H, Hayashizaki Y, Jurisica I and Wrana JL.
  TITLE     High-throughput mapping of a dynamic signaling network in mammalian
            cells
  JOURNAL   Science 307 (5715), 1621-1625 (2005)
   PUBMED   15761153
REFERENCE   5  (bases 1 to 3108)
  AUTHORS   Saurin AJ, Borden KL, Boddy MN and Freemont PS.
  TITLE     Does this have a familiar RING?
  JOURNAL   Trends Biochem Sci 21 (6), 208-214 (1996)
   PUBMED   8744354
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.49765.1,
            SRR1660807.68776.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371628.8/ ENSP00000360690.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA249558.1, BC100671.1 and
            AK290198.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001031855.2.
            Summary: The protein encoded by this gene contains a RING finger
            domain, a motif present in a variety of functionally distinct
            proteins and known to be involved in protein-protein and
            protein-DNA interactions. Multiple alternatively spliced transcript
            variants have been suggested, but their full length natures are not
            clear. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
FEATURES             Location/Qualifiers
     source          1..3108
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     gene            1..3108
                     /gene="LONRF3"
                     /gene_synonym="RNF127"
                     /note="LON peptidase N-terminal domain and ring finger 3"
                     /db_xref="GeneID:79836"
                     /db_xref="HGNC:HGNC:21152"
     CDS             164..2443
                     /gene="LONRF3"
                     /gene_synonym="RNF127"
                     /note="isoform 1 is encoded by transcript variant 1; ring
                     finger protein 127"
                     /codon_start=1
                     /product="LON peptidase N-terminal domain and RING finger
                     protein 3 isoform 1"
                     /protein_id="NP_001027026.1"
                     /db_xref="CCDS:CCDS35374.1"
                     /db_xref="GeneID:79836"
                     /db_xref="HGNC:HGNC:21152"
                     /translation="MESVRIEQMLSLPAEVSSDNLESAERGASAAQVDMGPHPKVAAEG
                     PAPLPTREPEQEQSPGTSTPESKVLLTQADALASRGRIREALEVYRQLSERQQLVAEQL
                     EQLVRCLAEKVPQGEALAPAPPDEGSTASGTVAAEETGAAAAAAATEVWDGFKCRKCHG
                     FLSDPVSLSCGHTFCKLCLERGRAADRRCALCGVKLSALMVATGRARGARRAGQQPPPP
                     LRVNVVLSGLLGKLFPGPARASQLRHEGNRLYRERQVEAALLKYNEAVKLAPNDHLLYS
                     NRSQIYFTLESHENALHDAEIACKLRPMGFKAHFRKAQALATLGKVEEALREFLYCVSL
                     DGKNKRARCEAQRDNLELPHCSSQEEAAARGDGSSLMDPAKVKGDGQQHHMKDQEEEEE
                     KWDATSPKAASSKTGKCQEKKRKHCQIESQEETGMPNKASKQDPPTDQGDKPALSLPLA
                     SFDASDLECALCMRLFYEPVTTPCGHTFCLKCLERCLDHNAKCPLCKDGLSQCLASRKY
                     SKNVIMEELIAKFLPEELKERRKLYEEEMEELSNLNKNVPIFVCTMAYPTVPCPLHIFE
                     PCYRLMIRRCIETGTRQFGMCLGDPVKGFAEYGCILEIRNVQFFADGRSVVDSIGKRRF
                     RVLHQSQRDGYNTADIEYIEDQKVQGEDCAELMGLHNCVYQQASLWFHSLKLSLKNRIL
                     NHFGPMPEKDADPQMNPNGPAWCWWMLAVLPLESRAQLPFLAMRSLKDRLNGIRRVLAF
                     ISRNQN"
     misc_feature    164..370
                     /gene="LONRF3"
                     /gene_synonym="RNF127"
                     /note="propagated from UniProtKB/Swiss-Prot (Q496Y0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    362..463
                     /gene="LONRF3"
                     /gene_synonym="RNF127"
                     /note="propagated from UniProtKB/Swiss-Prot (Q496Y0.1);
                     Region: TPR 1"
     misc_feature    890..991
                     /gene="LONRF3"
                     /gene_synonym="RNF127"
                     /note="propagated from UniProtKB/Swiss-Prot (Q496Y0.1);
                     Region: TPR 2"
     misc_feature    995..1093
                     /gene="LONRF3"
                     /gene_synonym="RNF127"
                     /note="propagated from UniProtKB/Swiss-Prot (Q496Y0.1);
                     Region: TPR 3"
     misc_feature    1097..1195
                     /gene="LONRF3"
                     /gene_synonym="RNF127"
                     /note="propagated from UniProtKB/Swiss-Prot (Q496Y0.1);
                     Region: TPR 4"
     misc_feature    1241..1525
                     /gene="LONRF3"
                     /gene_synonym="RNF127"
                     /note="propagated from UniProtKB/Swiss-Prot (Q496Y0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2718..2723
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LONRF3"
                     /gene_synonym="RNF127"
                     /note="hexamer: ATTAAA"
     polyA_site      2733
                     /gene="LONRF3"
                     /gene_synonym="RNF127"
                     /note="major polyA site"
     polyA_site      3062
                     /gene="LONRF3"
                     /gene_synonym="RNF127"
ORIGIN
        1 attaggcggc gcggggcggc cggcatggag ctcccggagg cgcggcaggg tcaggagctc
       61 ggtggcatgg cggcggtggc tgccccgatt tcctccagct gccactcctt gcttcgtgtc
      121 cccggtccct agacgcctcg tctcctcccg tgtccctctt cccatggagt cagtacggat
      181 cgaacagatg ctgagcttgc ccgctgaggt cagcagcgac aacttggagt cggcggagcg
      241 aggggcatca gcggcccaag tagacatggg cccccaccca aaggtggctg cagagggccc
      301 cgcacctcta ccgacgcggg agccagagca agagcagtct ccggggacct caacgccgga
      361 gagcaaagtc ctgctcacgc aggcagacgc cttggcgtcc cgggggcgaa tccgtgaagc
      421 cctcgaggtg tatagacagc tctccgagcg gcagcagctg gtggctgagc agctggagca
      481 gctggtgcgc tgcctggcgg agaaagtccc gcaaggcgag gcgctggcgc cggcgccccc
      541 ggacgagggt agcactgcaa gcggcaccgt ggcggcggaa gagacggggg ccgccgcggc
      601 tgcggcggcc accgaggtgt gggacggctt taagtgccgg aaatgtcatg ggtttctatc
      661 agaccccgtg tccttgtcgt gtggccacac cttttgtaaa ctgtgcctgg aacgtgggcg
      721 ggccgccgac cggcgctgtg cgctgtgcgg ggtcaagctc tccgccttga tggtggccac
      781 tgggcgggcg cgtggagccc ggcgggctgg gcagcagccg ccgccgccgc tgcgagtcaa
      841 cgtggtgctc agcggcctcc tcggcaagtt gtttccaggc ccagcgcgag cgtcgcaact
      901 ccggcacgag ggcaaccgac tgtaccgcga gcgccaggtg gaggcggcac tgctcaagta
      961 caacgaggca gttaagttgg ctccaaatga ccacttgctt tatagcaatc ggtctcagat
     1021 ttatttcacc ttggagtctc atgagaatgc actgcatgat gcagaaatag catgtaagct
     1081 ccgcccgatg ggttttaagg cacatttcag aaaagcccaa gccttagcca ccctaggcaa
     1141 ggtggaggag gcactaaggg agtttctcta ctgtgtatcc cttgatggaa agaacaagag
     1201 agcaagatgt gaagcccaaa gagacaatct ggagctccca cattgttcta gtcaggagga
     1261 agcagcagcc aggggagatg gcagcagtct gatggaccca gctaaagtga agggggatgg
     1321 tcagcagcac cacatgaaag accaggaaga agaggaggag aagtgggatg ctacctctcc
     1381 aaaagctgct tccagcaaga ctggaaaatg ccaggaaaag aaaaggaaac attgccagat
     1441 tgaatcccaa gaagaaacgg ggatgcctaa taaagcctcc aagcaagatc ctcccactga
     1501 tcagggggac aaacctgctc tcagtttacc acttgcatct ttcgacgcat ctgaccttga
     1561 atgcgctcta tgtatgagat tattctatga gccagtcaca acaccttgcg ggcatacttt
     1621 ttgcttaaaa tgcctagaaa gatgcctaga tcacaacgca aagtgtccat tgtgcaaaga
     1681 cggtctttca cagtgcttgg catcaagaaa atacagcaaa aatgtaataa tggaggagct
     1741 catagctaaa ttccttccag aagaactgaa ggaacgaagg aagctttatg aagaggaaat
     1801 ggaagaactt tctaacctta ataagaatgt gcctattttc gtgtgtacta tggcctatcc
     1861 caccgttcct tgtcccctgc acatctttga gccttgttac cgcctgatga ttcgtagatg
     1921 cattgagaca ggcacgagac agtttggcat gtgccttgga gatcctgtca aagggtttgc
     1981 agaatatggc tgcatcctag agatcagaaa tgttcaattc tttgctgatg gccgctcagt
     2041 ggttgacagc ataggcaaga ggcgcttcag ggtgctccat cagagccagc gggatggcta
     2101 caacacagcc gacattgaat acattgaaga ccaaaaggtt cagggagagg attgtgctga
     2161 gctcatggga ttacataact gtgtctatca gcaagcatca ttgtggtttc attcgctcaa
     2221 attatcccta aagaatcgga tactcaatca ctttggtccc atgccggaga aagacgccga
     2281 tcctcagatg aacccgaatg gcccagcctg gtgctggtgg atgttagcag ttcttccctt
     2341 ggaaagccga gctcagctcc ccttcctagc aatgaggtcc ttaaaggaca gactgaatgg
     2401 tattcgacga gtcctggcct tcatatcccg aaaccaaaac tagtgagtgg attgccgaag
     2461 aggagctccc accttcccca ctgccgtcgg ggggagtctt cttgtaaata tatctaattg
     2521 caataatatc ttaacagaag ggggtgtcaa acagaggcat cagcctgctg ttgatcacag
     2581 agagaaattg agtagaaaga ccaaaagaat gtgacctatt tgaaactttc tgtcttaaga
     2641 tgcttcttga catgctgcat aactacataa acagcagagg tgtttaagag cccagaaaaa
     2701 cataatttga ttttaacatt aaaatttcca aaagtttaaa gtggttttgc tttaatattc
     2761 tttctttcat agatcaatga ctgtgtggtt gaaatgtgaa aacaaagata ctaataatgt
     2821 tgctgtataa tttcactgac ttgaggtctc attccaaatg gttcaggttt tatagagcat
     2881 tgtgtaaaat aatgttcata cttctttctg ttttaataat ttattttttg cactactgta
     2941 tccttttttc tacatgtatg tttgtaacta tttaagcgta cattgctgaa aagtccattg
     3001 ctttatttat tgatgtggtt taccatgtac ctagggggaa ataacaatac tagaagtgtg
     3061 cagtttttgc ttttatcttt tttttactac aatgacacta gttcttag
//
LOCUS       NM_001032                295 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S29 (RPS29), transcript variant 1,
            mRNA.
ACCESSION   NM_001032
VERSION     NM_001032.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 295)
  AUTHORS   Behrmann E, Loerke J, Budkevich TV, Yamamoto K, Schmidt A, Penczek
            PA, Vos MR, Burger J, Mielke T, Scheerer P and Spahn CM.
  TITLE     Structural snapshots of actively translating human ribosomes
  JOURNAL   Cell 161 (4), 845-857 (2015)
   PUBMED   25957688
REFERENCE   2  (bases 1 to 295)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   3  (bases 1 to 295)
  AUTHORS   Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor
            AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J,
            Hicks BD, Burdett L, Alter BP, Zon L and Savage SA.
  TITLE     Whole-exome sequencing and functional studies identify RPS29 as a
            novel gene mutated in multicase Diamond-Blackfan anemia families
  JOURNAL   Blood 124 (1), 24-32 (2014)
   PUBMED   24829207
  REMARK    GeneRIF: We uncovered a novel Diamond-Blackfan anemia causative
            gene, RPS29
REFERENCE   4  (bases 1 to 295)
  AUTHORS   Xie P, Kranzler HR, Yang C, Zhao H, Farrer LA and Gelernter J.
  TITLE     Genome-wide association study identifies new susceptibility loci for
            posttraumatic stress disorder
  JOURNAL   Biol Psychiatry 74 (9), 656-663 (2013)
   PUBMED   23726511
REFERENCE   5  (bases 1 to 295)
  AUTHORS   Anger AM, Armache JP, Berninghausen O, Habeck M, Subklewe M, Wilson
            DN and Beckmann R.
  TITLE     Structures of the human and Drosophila 80S ribosome
  JOURNAL   Nature 497 (7447), 80-85 (2013)
   PUBMED   23636399
REFERENCE   6  (bases 1 to 295)
  AUTHORS   Kondoh N, Noda M, Fisher RJ, Schweinfest CW, Papas TS, Kondoh A,
            Samuel KP and Oikawa T.
  TITLE     The S29 ribosomal protein increases tumor suppressor activity of K
            rev-1 gene on v-K ras-transformed NIH3T3 cells
  JOURNAL   Biochim Biophys Acta 1313 (1), 41-46 (1996)
   PUBMED   8781548
REFERENCE   7  (bases 1 to 295)
  AUTHORS   Vladimirov SN, Ivanov AV, Karpova GG, Musolyamov AK, Egorov TA,
            Thiede B, Wittmann-Liebold B and Otto A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   8  (bases 1 to 295)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 295)
  AUTHORS   Frigerio JM, Dagorn JC and Iovanna JL.
  TITLE     Cloning, sequencing and expression of the L5, L21, L27a, L28, S5,
            S9, S10 and S29 human ribosomal protein mRNAs
  JOURNAL   Biochim Biophys Acta 1262 (1), 64-68 (1995)
   PUBMED   7772601
REFERENCE   10  (bases 1 to 295)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301769
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CB110739.1, CD249531.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000245458.11/ ENSP00000245458.7
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BU942244.1 and BC035313.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 30, 2019 this sequence version replaced NM_001032.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit and a member of the
            S14P family of ribosomal proteins. The protein, which contains a
            C2-C2 zinc finger-like domain that can bind to zinc, can enhance
            the tumor suppressor activity of Ras-related protein 1A (KREV1). It
            is located in the cytoplasm. Variable expression of this gene in
            colorectal cancers compared to adjacent normal tissues has been
            observed, although no correlation between the level of expression
            and the severity of the disease has been found. As is typical for
            genes encoding ribosomal proteins, there are multiple processed
            pseudogenes of this gene dispersed through the genome.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Mar
            2013].
            Transcript Variant: This variant (1) is the predominant transcript
            and encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..295
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q21.3"
     gene            1..295
                     /gene="RPS29"
                     /gene_synonym="DBA13; S29; uS14"
                     /note="ribosomal protein S29"
                     /db_xref="GeneID:6235"
                     /db_xref="HGNC:HGNC:10419"
                     /db_xref="MIM:603633"
     CDS             35..205
                     /gene="RPS29"
                     /gene_synonym="DBA13; S29; uS14"
                     /note="isoform 1 is encoded by transcript variant 1; 40S
                     ribosomal protein S29; small ribosomal subunit protein
                     uS14"
                     /codon_start=1
                     /product="small ribosomal subunit protein uS14 isoform 1"
                     /protein_id="NP_001023.1"
                     /db_xref="CCDS:CCDS9685.1"
                     /db_xref="GeneID:6235"
                     /db_xref="HGNC:HGNC:10419"
                     /db_xref="MIM:603633"
                     /translation="MGHQQLYWSHPRKFGQGSRSCRVCSNRHGLIRKYGLNMCRQCFRQ
                     YAKDIGFIKLD"
     misc_feature    59..61
                     /gene="RPS29"
                     /gene_synonym="DBA13; S29; uS14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P62273.2); phosphorylation site"
     misc_feature    68..70
                     /gene="RPS29"
                     /gene_synonym="DBA13; S29; uS14"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P62273.2); methylation site"
     misc_feature    176..178
                     /gene="RPS29"
                     /gene_synonym="DBA13; S29; uS14"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62273.2); acetylation site"
     regulatory      276..281
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS29"
                     /gene_synonym="DBA13; S29; uS14"
                     /note="hexamer: AATAAA"
     polyA_site      295
                     /gene="RPS29"
                     /gene_synonym="DBA13; S29; uS14"
                     /note="major polyA site"
ORIGIN
        1 cttcctttta cctcgttgca ctgctgagag caagatgggt caccagcagc tgtactggag
       61 ccacccgcga aaattcggcc agggttctcg ctcttgtcgt gtctgttcaa accggcacgg
      121 tctgatccgg aaatatggcc tcaatatgtg ccgccagtgt ttccgtcagt acgcgaagga
      181 tatcggtttc attaagttgg actaaatgct cttccttcag aggattatcc ggggcatcta
      241 ctcaatgaaa aaccatgata attctttgta tataaaataa acatttgaaa aaacc
//
LOCUS       NM_001032221            3754 bp    mRNA    linear   PRI 17-SEP-2023
DEFINITION  Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant
            2, mRNA.
ACCESSION   NM_001032221
VERSION     NM_001032221.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3754)
  AUTHORS   Thalwitzer KM, Driedger JH, Xian J, Saffari A, Zacher P, Bolsterli
            BK, Ruggiero SM, Sullivan KR, Datta AN, Kellinghaus C, Althaus J,
            Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman HMH, Debus
            OM, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H,
            Gburek-Augustat J, Preisel M, Schlump JU, Laufs M, Mammadova D,
            Wurst C, Prager C, Lohr-Nilles C, Martin P, Garbade SF, Platzer K,
            Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke JR, Runkel E, Klein
            B, Linden T, Schroter J, Steffeck H, Thies B, von Deimling F,
            Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G,
            Koelker S, Hoffmann GF, Ries M, Helbig I and Syrbe S.
  TITLE     Natural History and Developmental Trajectories of Individuals With
            Disease-Causing Variants in STXBP1
  JOURNAL   Neurology 101 (9), e879-e891 (2023)
   PUBMED   37407264
  REMARK    GeneRIF: Natural History and Developmental Trajectories of
            Individuals With Disease-Causing Variants in STXBP1.
REFERENCE   2  (bases 1 to 3754)
  AUTHORS   Liu RJY, Al-Molieh Y, Chen SZ, Drobac M, Urban D, Chen CH, Yao HHY,
            Geng RSQ, Li L, Pluthero FG, Benlekbir S, Rubinstein JL and Kahr
            WHA.
  TITLE     The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional
            complex with VPS16B
  JOURNAL   J Biol Chem 299 (6), 104718 (2023)
   PUBMED   37062417
  REMARK    GeneRIF: The Sec1-Munc18 protein VPS33B forms a uniquely
            bidirectional complex with VPS16B.
REFERENCE   3  (bases 1 to 3754)
  AUTHORS   Kessi M, Chen B, Shan LD, Wang Y, Yang L, Yin F, He F, Peng J and
            Wang G.
  TITLE     Genotype-phenotype correlations of STXBP1 pathogenic variants and
            the treatment choices for STXBP1-related disorders in China
  JOURNAL   BMC Med Genomics 16 (1), 46 (2023)
   PUBMED   36882827
  REMARK    GeneRIF: Genotype-phenotype correlations of STXBP1 pathogenic
            variants and the treatment choices for STXBP1-related disorders in
            China. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3754)
  AUTHORS   Feringa FM, van Berkel AA, Nair A and Verhage M.
  TITLE     An Atypical, Staged Cell Death Pathway Induced by Depletion of
            SNARE-Proteins MUNC18-1 or Syntaxin-1
  JOURNAL   J Neurosci 43 (3), 347-358 (2023)
   PUBMED   36517239
  REMARK    GeneRIF: An Atypical, Staged Cell Death Pathway Induced by Depletion
            of SNARE-Proteins MUNC18-1 or Syntaxin-1.
REFERENCE   5  (bases 1 to 3754)
  AUTHORS   Tellam JT, Macaulay SL, McIntosh S, Hewish DR, Ward CW and James DE.
  TITLE     Characterization of Munc-18c and syntaxin-4 in 3T3-L1 adipocytes.
            Putative role in insulin-dependent movement of GLUT-4
  JOURNAL   J Biol Chem 272 (10), 6179-6186 (1997)
   PUBMED   9045631
REFERENCE   6  (bases 1 to 3754)
  AUTHORS   Gengyo-Ando K, Kitayama H, Mukaida M and Ikawa Y.
  TITLE     A murine neural-specific homolog corrects cholinergic defects in
            Caenorhabditis elegans unc-18 mutants
  JOURNAL   J Neurosci 16 (21), 6695-6702 (1996)
   PUBMED   8824310
  REMARK    GeneRIF: Describes cloning of mouse and human homologs of C. elegans
            UNC-18.
REFERENCE   7  (bases 1 to 3754)
  AUTHORS   Fujita Y, Sasaki T, Fukui K, Kotani H, Kimura T, Hata Y, Sudhof TC,
            Scheller RH and Takai Y.
  TITLE     Phosphorylation of Munc-18/n-Sec1/rbSec1 by protein kinase C: its
            implication in regulating the interaction of Munc-18/n-Sec1/rbSec1
            with syntaxin
  JOURNAL   J Biol Chem 271 (13), 7265-7268 (1996)
   PUBMED   8631738
REFERENCE   8  (bases 1 to 3754)
  AUTHORS   Garcia EP, McPherson PS, Chilcote TJ, Takei K and De Camilli P.
  TITLE     rbSec1A and B colocalize with syntaxin 1 and SNAP-25 throughout the
            axon, but are not in a stable complex with syntaxin
  JOURNAL   J Cell Biol 129 (1), 105-120 (1995)
   PUBMED   7698978
REFERENCE   9  (bases 1 to 3754)
  AUTHORS   Pevsner J, Hsu SC and Scheller RH.
  TITLE     n-Sec1: a neural-specific syntaxin-binding protein
  JOURNAL   Proc Natl Acad Sci U S A 91 (4), 1445-1449 (1994)
   PUBMED   8108429
REFERENCE   10  (bases 1 to 3754)
  AUTHORS   Khaikin,Y. and Mercimek-Andrews,S.
  TITLE     STXBP1 Encephalopathy with Epilepsy
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   27905812
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF004562.1, D63851.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000373299.5/ ENSP00000362396.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162426.20.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 2, 2019 this sequence version replaced NM_001032221.5.
            Summary: This gene encodes a syntaxin-binding protein. The encoded
            protein appears to play a role in release of neurotransmitters via
            regulation of syntaxin, a transmembrane attachment protein
            receptor. Mutations in this gene have been associated with
            infantile epileptic encephalopathy-4. Alternatively spliced
            transcript variants have been described. [provided by RefSeq, Feb
            2010].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3754
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..3754
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /note="syntaxin binding protein 1"
                     /db_xref="GeneID:6812"
                     /db_xref="HGNC:HGNC:11444"
                     /db_xref="MIM:602926"
     misc_feature    59..61
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /note="upstream in-frame stop codon"
     CDS             128..1912
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /note="isoform b is encoded by transcript variant 2;
                     neuronal SEC1; protein unc-18 homolog 1; protein unc-18
                     homolog A"
                     /codon_start=1
                     /product="syntaxin-binding protein 1 isoform b"
                     /protein_id="NP_001027392.1"
                     /db_xref="CCDS:CCDS35146.1"
                     /db_xref="GeneID:6812"
                     /db_xref="HGNC:HGNC:11444"
                     /db_xref="MIM:602926"
                     /translation="MAPIGLKAVVGEKIMHDVIKKVKKKGEWKVLVVDQLSMRMLSSCC
                     KMTDIMTEGITIVEDINKRREPLPSLEAVYLITPSEKSVHSLISDFKDPPTAKYRAAHV
                     FFTDSCPDALFNELVKSRAAKVIKTLTEINIAFLPYESQVYSLDSADSFQSFYSPHKAQ
                     MKNPILERLAEQIATLCATLKEYPAVRYRGEYKDNALLAQLIQDKLDAYKADDPTMGEG
                     PDKARSQLLILDRGFDPSSPVLHELTFQAMSYDLLPIENDVYKYETSGIGEARVKEVLL
                     DEDDDLWIALRHKHIAEVSQEVTRSLKDFSSSKRMNTGEKTTMRDLSQMLKKMPQYQKE
                     LSKYSTHLHLAEDCMKHYQGTVDKLCRVEQDLAMGTDAEGEKIKDPMRAIVPILLDANV
                     STYDKIRIILLYIFLKNGITEENLNKLIQHAQIPPEDSEIITNMAHLGVPIVTDSTLRR
                     RSKPERKERISEQTYQLSRWTPIIKDIMEDTIEDKLDTKHYPYISTRSSASFSTTAVSA
                     RYGHWHKNKAPGEYRSGPRLIIFILGGVSLNEMRCAYEVTQANGKWEVLIGSTHILTPQ
                     KLLDTLKKLNKTDEEISS"
     misc_feature    1553..1555
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P61765; propagated from
                     UniProtKB/Swiss-Prot (P61764.1); phosphorylation site"
     misc_feature    1652..1654
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O08599; propagated from
                     UniProtKB/Swiss-Prot (P61764.1); phosphorylation site"
     misc_feature    1658..1660
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O08599; propagated from
                     UniProtKB/Swiss-Prot (P61764.1); phosphorylation site"
     misc_feature    1673..1675
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O08599; propagated from
                     UniProtKB/Swiss-Prot (P61764.1); phosphorylation site"
     misc_feature    1904..1906
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P61765; propagated from
                     UniProtKB/Swiss-Prot (P61764.1); phosphorylation site"
     regulatory      3730..3735
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /note="hexamer: AATAAA"
     polyA_site      3754
                     /gene="STXBP1"
                     /gene_synonym="DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1;
                     unc-18A; UNC18; unc18-1"
                     /note="major polyA site"
ORIGIN
        1 agtcggtccc tagcgcggct gcggggcgga gagctgcggc tggcccagcg cgcccacctg
       61 aggaggcggc ggggtccgca ggcgtcgcgg gacgaggaga tcggagccgg gagactcgcg
      121 cagcgccatg gcccccattg gcctcaaagc tgttgtcgga gagaagatta tgcatgatgt
      181 gataaagaag gtcaagaaga agggggaatg gaaggtgctg gtggtggatc agttaagcat
      241 gaggatgctg tcctcctgct gcaagatgac agacatcatg accgagggca taacgattgt
      301 ggaagatatc aataagcgca gagagccgct ccccagcctg gaggctgtgt atctcatcac
      361 tccatccgag aagtccgtcc actctctcat cagtgacttt aaggacccgc cgactgctaa
      421 ataccgggct gcacacgtct tcttcactga ctcttgtcca gatgccctgt ttaatgaact
      481 ggtaaaatcc cgagcagcca aagtcatcaa aactctgacg gaaatcaata ttgcatttct
      541 cccgtatgaa tcccaggtct attccttgga ctctgctgac tctttccaaa gcttctacag
      601 tccccacaag gctcagatga agaatcctat actggagcgc ctggcagagc agatcgcgac
      661 cctttgtgcc accctgaagg agtacccggc tgtgcggtat cggggggaat acaaggacaa
      721 tgccctgctg gctcagctaa tccaggacaa gctcgatgcc tataaagctg atgatccaac
      781 aatgggggag ggcccagaca aggcacgctc ccagctcctg atcctggatc gaggctttga
      841 ccccagctcc cctgtgctcc atgaattgac ttttcaggct atgagttatg atctgctgcc
      901 tatcgaaaat gatgtataca agtatgagac cagcggcatc ggggaggcac gggtgaagga
      961 ggtgctcctg gacgaggacg acgacctgtg gatagcactg cgccacaagc acatcgcaga
     1021 ggtgtcccag gaagtcaccc ggtctctgaa agatttttct tctagcaaga gaatgaatac
     1081 tggagagaag accaccatgc gggacctgtc ccagatgctg aagaagatgc ctcagtacca
     1141 gaaagagctc agcaagtact ccacccacct gcaccttgct gaggactgta tgaagcatta
     1201 ccaaggcacc gtagacaaac tctgccgagt ggagcaggac ctggccatgg gcacagatgc
     1261 tgagggagag aagatcaagg accctatgcg agccatcgtc cccattctgc tggatgccaa
     1321 tgtcagcact tatgacaaaa tccgcatcat ccttctctac atctttttga agaatggcat
     1381 cacggaggaa aacctgaaca aactgatcca gcacgcccag atacccccgg aggatagtga
     1441 gatcatcacc aacatggctc acctcggcgt gcccatcgtc accgattcca cgctgcgtcg
     1501 ccggagcaag ccggagcgga aggaacgcat cagcgagcag acctaccagc tctcacggtg
     1561 gactccgatt atcaaggaca tcatggagga cactattgag gacaaacttg acaccaaaca
     1621 ctacccttat atctctaccc gttcctctgc ctccttcagc accaccgccg tcagcgcccg
     1681 ctatgggcac tggcataaga acaaggcccc aggcgagtac cgcagtggcc cccgcctcat
     1741 cattttcatc cttgggggtg tgagcctgaa tgagatgcgc tgcgcctacg aggtgaccca
     1801 ggccaacgga aagtgggagg tgctgatagg atccacacac atcctcaccc cacagaaact
     1861 gctggacaca ctgaagaaac tgaataaaac agatgaagaa ataagcagtt aaaaaaataa
     1921 gtcgcccctc caaaacacgc ccccatccca cagcgctccg cagcttccca ccaccgcccg
     1981 cctcagttcc tttgcgtctg ttgcctcccc agccctgcac gccctggctg gcactgttgc
     2041 cgctgcattc tcgtgttcag tgatgccctc ttcttgtttg aaacaaaaga aaataatgca
     2101 ttgtgttttt taaaaagagt atcttataca tgtatcctaa aaagagaagc tcatgtgcaa
     2161 ttggtgcaca gcaggagaaa tttctggact gttaggatga atggacgcct tctccccgtt
     2221 atttaagatt tgtgaccttg tacataaccc tgggtgacgt gcacattgct tgggtatgga
     2281 acggtagaaa tttgggtgtt tttaaaacct tgtttggggt tgttcctgtc cttgttgaga
     2341 atcatagaga tgtctgtgtt cttggagtat ttcacactga ggactaatct gctatcttca
     2401 ttccagtccc tacccctcag tgcctgctct catccaaata acctgggagg tgacaatcag
     2461 gatatctcag gaggtccaag gtggaacaga cctctttgcc tttcccagcg tctcataccc
     2521 ccggtagtgc agctgtgggt ggaggctggg gtgtctgcac gaagtcaggc cagcgtcctc
     2581 ctccacagcc tgtcactgcc ccctccccag cctgtgtcca cagtgctgtg atcccgaggg
     2641 aagtcctcca gtctaagtca cagtgccctg acaggtgaga agcaaactcc cgctggaagc
     2701 ctccatctct ttggaaaaac agttagtctg gagcctgtgg cccaggccct tctgtcccca
     2761 ggcatcatcc caacagctca ttttccctag tccgccttcg ttcaagggtc aggaatggac
     2821 cagaacagat gggttctgga ggcccctgaa cagagggcta tggctgtgga gaaggttctt
     2881 ggcccgttgg actcacacag accctgtacc ctctcggcaa gcatcttcag tcagattatc
     2941 ctcagtttca gatacttcat aataccttgt gttgtgtggg gtcatacatc atcgtgtttg
     3001 taagagaaga tggtcatttt attctctgta taaaacttag ctctaaagca gaaactaaag
     3061 cagcaaatgc aggaaggctg tctcgccatc ctcaagactc agcagctctc attctccagt
     3121 ggtgagcaca ccatttgtgc tgctgctgtt gtcgtgaaat ataataacag tggaagtcac
     3181 aaaaatgtcc cctgcccagc cccctcgccg cccttgacct cctgcaggcc atgtgtgtat
     3241 tacttgtcta gtgatgtcct ctcaaagtgc tgtacgcgag ctcggcgcca cctccgcctc
     3301 cctttcagag cctgctcccc gccctctctg ctcgctgcat tgtggtgttc tcttctcaag
     3361 gctttgaaat ctccccttgc actgagatta gtcgtcagat ctctccccgt ctccctccca
     3421 acttatacga cctgatttcc ttaggacgga accgcaggca cctgcgccgg gcgtcttact
     3481 cccgctgctt gttctgtccc ctccctcgga ccaaacagtg ctcatgcttc aggaccttgt
     3541 ttgtcgaaga tgttggtttc cctttctctg ttatttatat aaaaataatt tatcaaaagg
     3601 atattttaaa aaagctagtc tgtcttgaaa cttgtttacc ttaaaattat cagaatctca
     3661 gtgtttgaaa gtactgaagc acaaacatat atcatctctg taccattctg tactaaagca
     3721 cttgagtcta ataaataaag aaatcagcac ccct
//
LOCUS       NM_001032283            4136 bp    mRNA    linear   PRI 18-MAR-2023
DEFINITION  Homo sapiens thymopoietin (TMPO), transcript variant 2, mRNA.
ACCESSION   NM_001032283
VERSION     NM_001032283.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4136)
  AUTHORS   Luo XJ, He MM, Liu J, Zheng JB, Wu QN, Chen YX, Meng Q, Luo KJ, Chen
            DL, Xu RH, Zeng ZL, Liu ZX and Luo HY.
  TITLE     LncRNA TMPO-AS1 promotes esophageal squamous cell carcinoma
            progression by forming biomolecular condensates with FUS and p300 to
            regulate TMPO transcription
  JOURNAL   Exp Mol Med 54 (6), 834-847 (2022)
   PUBMED   35760875
  REMARK    GeneRIF: LncRNA TMPO-AS1 promotes esophageal squamous cell carcinoma
            progression by forming biomolecular condensates with FUS and p300 to
            regulate TMPO transcription.
REFERENCE   2  (bases 1 to 4136)
  AUTHORS   Liu X and Shen Z.
  TITLE     LncRNA TMPO-AS1 Aggravates the Development of Hepatocellular
            Carcinoma via miR-429/GOT1 Axis
  JOURNAL   Am J Med Sci 360 (6), 711-720 (2020)
   PUBMED   32988599
  REMARK    GeneRIF: LncRNA TMPO-AS1 Aggravates the Development of
            Hepatocellular Carcinoma via miR-429/GOT1 Axis.
REFERENCE   3  (bases 1 to 4136)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   4  (bases 1 to 4136)
  AUTHORS   Qin Z, Zheng X and Fang Y.
  TITLE     Long noncoding RNA TMPO-AS1 promotes progression of non-small cell
            lung cancer through regulating its natural antisense transcript TMPO
  JOURNAL   Biochem Biophys Res Commun 516 (2), 486-493 (2019)
   PUBMED   31230752
  REMARK    GeneRIF: TMPO-AS1 contributes to lung carcinogenesis, which may be
            partially through upregulation TMPO.
REFERENCE   5  (bases 1 to 4136)
  AUTHORS   Mirza AN, McKellar SA, Urman NM, Brown AS, Hollmig T, Aasi SZ and
            Oro AE.
  TITLE     LAP2 Proteins Chaperone GLI1 Movement between the Lamina and
            Chromatin to Regulate Transcription
  JOURNAL   Cell 176 (1-2), 198-212 (2019)
   PUBMED   30503211
REFERENCE   6  (bases 1 to 4136)
  AUTHORS   Harris CA, Andryuk PJ, Cline S, Chan HK, Natarajan A, Siekierka JJ
            and Goldstein G.
  TITLE     Three distinct human thymopoietins are derived from alternatively
            spliced mRNAs
  JOURNAL   Proc Natl Acad Sci U S A 91 (14), 6283-6287 (1994)
   PUBMED   7517549
REFERENCE   7  (bases 1 to 4136)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301486
REFERENCE   8  (bases 1 to 4136)
  AUTHORS   Heavner GA, Audhya T and Goldstein G.
  TITLE     Peptide analogs of thymopentin distinguish distinct thymopoietin
            receptor specificities on two human T cell lines
  JOURNAL   Regul Pept 27 (2), 257-262 (1990)
   PUBMED   2158125
REFERENCE   9  (bases 1 to 4136)
  AUTHORS   Fuccello,A., Audhya,T., Talle,M.A. and Goldstein,G.
  TITLE     Immunoassay for bovine serum thymopoietin: discrimination from
            splenin by monoclonal antibodies
  JOURNAL   Arch Biochem Biophys 228 (1), 292-298 (1984)
   PUBMED   6364989
REFERENCE   10  (bases 1 to 4136)
  AUTHORS   Twomey,J.J., Goldstein,G., Lewis,V.M., Bealmear,P.M. and Good,R.A.
  TITLE     Bioassay determinations of thymopoietin and thymic hormone levels in
            human plasma
  JOURNAL   Proc Natl Acad Sci U S A 74 (6), 2541-2545 (1977)
   PUBMED   302007
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U09087.1, BC053675.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000556029.6/ ENSP00000450627.1
            RefSeq Select criteria      :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB239672.1, BC053675.1,
            AB209297.1, BQ232508.1, BG676381.1, BM802949.1, AI055921.1 and
            AA992204.1.
            On Dec 20, 2019 this sequence version replaced NM_001032283.2.
            Summary: Through alternative splicing, this gene encodes several
            distinct LEM domain containing protein isoforms. LEM domain
            proteins include inner nuclear membrane and intranuclear proteins,
            and are involved in a variety of cellular functions including gene
            expression, chromatin organization, and replication and cell cycle
            control. The encoded alpha isoform is broadly diffuse in the
            nucleus and contains a lamin binding domain, while the beta and
            gamma isoforms are localized to the nuclear membrane and contain an
            HDAC3 interaction domain. The distinct isoforms may compete with
            each other when acting to chaperone other proteins and regulate
            transcription. [provided by RefSeq, Aug 2019].
            Transcript Variant: This variant (2) differs at the 3' end compared
            to variant 1, resulting in a shorter isoform (beta) with a distinct
            C-terminus compared to isoform alpha.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4136
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     gene            1..4136
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="thymopoietin"
                     /db_xref="GeneID:7112"
                     /db_xref="HGNC:HGNC:11875"
                     /db_xref="MIM:188380"
     misc_feature    177..179
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="upstream in-frame stop codon"
     CDS             279..1643
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="isoform beta is encoded by transcript variant 2; LEM
                     domain containing 4; lamina-associated polypeptide 2"
                     /codon_start=1
                     /product="thymopoietin isoform beta"
                     /protein_id="NP_001027454.1"
                     /db_xref="CCDS:CCDS31879.1"
                     /db_xref="GeneID:7112"
                     /db_xref="HGNC:HGNC:11875"
                     /db_xref="MIM:188380"
                     /translation="MPEFLEDPSVLTKDKLKSELVANNVTLPAGEQRKDVYVQLYLQHL
                     TARNRPPLPAGTNSKGPPDFSSDEEREPTPVLGSGAAAAGRSRAAVGRKATKKTDKPRQ
                     EDKDDLDVTELTNEDLLDQLVKYGVNPGPIVGTTRKLYEKKLLKLREQGTESRSSTPLP
                     TISSSAENTRQNGSNDSDRYSDNEEDSKIELKLEKREPLKGRAKTPVTLKQRRVEHNQS
                     YSQAGITETEWTSGSSKGGPLQALTRESTRGSRRTPRKRVETSEHFRIDGPVISESTPI
                     AETIMASSNESLVVNRVTGNFKHASPILPITEFSDIPRRAPKKPLTRAEVGEKTEERRV
                     ERDILKEMFPYEASTPTGISASCRRPIKGAAGRPLELSDFRMEESFSSKYVPKYVPLAD
                     VKSEKTKKGRSIPVWIKILLFVVVAVFLFLVYQAMETNQVNPFSNFLHVDPRKSN"
     misc_feature    279..1508
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="propagated from UniProtKB/Swiss-Prot (P42167.2);
                     Region: Nucleoplasmic. /evidence=ECO:0000255"
     misc_feature    417..629
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="propagated from UniProtKB/Swiss-Prot (P42167.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    423..602
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="propagated from UniProtKB/Swiss-Prot (P42167.2);
                     Region: Linker"
     misc_feature    447..449
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    453..455
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    474..476
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    477..479
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    498..500
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    513..515
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P42167.2);
                     phosphorylation site"
     misc_feature    534..536
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q61029; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); methylation site"
     misc_feature    540..542
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q61029; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); methylation site"
     misc_feature    690..1007
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="propagated from UniProtKB/Swiss-Prot (P42167.2);
                     Region: NAKAP95-binding N"
     misc_feature    723..1073
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="propagated from UniProtKB/Swiss-Prot (P42167.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    738..740
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    744..746
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    753..755
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61029; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    756..758
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P42167.2);
                     phosphorylation site"
     misc_feature    768..770
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    774..776
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q61029; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    780..782
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    807..809
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    816..818
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    828..830
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    846..848
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    897..899
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q61029; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); acetylation site"
     misc_feature    909..911
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    942..944
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    948..950
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    1026..1028
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    1038..1040
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    1071..1073
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    1152..1154
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    1173..1391
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="propagated from UniProtKB/Swiss-Prot (P42167.2);
                     Region: Binds lamins B"
     misc_feature    1176..1400
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="propagated from UniProtKB/Swiss-Prot (P42167.2);
                     Region: NAKAP95-binding C"
     misc_feature    1194..1196
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:17693683, ECO:0007744|PubMed:17924679,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    1212..1214
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    1221..1223
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    1362..1364
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    1410..1412
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    1431..1433
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    1443..1445
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q61029; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); acetylation site"
     misc_feature    1482..1484
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P42167.2); phosphorylation site"
     misc_feature    1509..1580
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="propagated from UniProtKB/Swiss-Prot (P42167.2);
                     transmembrane region"
     regulatory      4076..4081
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="hexamer: AATAAA"
     polyA_site      4097
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="major polyA site"
     regulatory      4111..4116
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
                     /note="hexamer: AATAAA"
     polyA_site      4136
                     /gene="TMPO"
                     /gene_synonym="CMD1T; LAP2; LEMD4; PRO0868; TP"
ORIGIN
        1 gaagcaggct gctcgcctcc tgcctgtagt gtgtgggctg gggttggtgc gagcttccag
       61 cttggccgca gttggttcgt agttcggctc tggggtcttt tgtgtccggg tctggcttgg
      121 ctttgtgtcc gcgagttttt gttccgctcc gcagcgctct tcccgggcag gagccgtgag
      181 gctcggaggc ggcagcgcgg tccccggcca ggagcaagcg cgccggcgtg agcggcggcg
      241 gcaaaggctg tggggagggg gcttcgcaga tccccgagat gccggagttc ctggaagacc
      301 cctcggtcct gacaaaagac aagttgaaga gtgagttggt cgccaacaat gtgacgctgc
      361 cggccgggga gcagcgcaaa gacgtgtacg tccagctcta cctgcagcac ctcacggctc
      421 gcaaccggcc gccgctcccc gccggcacca acagcaaggg gcccccggac ttctccagtg
      481 acgaagagcg cgagcccacc ccggtcctcg gctctggggc cgccgccgcg ggccggagcc
      541 gagcagccgt cggcaggaaa gccacaaaaa aaactgataa acccagacaa gaagataaag
      601 atgatctaga tgtaacagag ctcactaatg aagatctttt ggatcagctt gtgaaatacg
      661 gagtgaatcc tggtcctatt gtgggaacaa ccaggaagct atatgagaaa aagcttttga
      721 aactgaggga acaaggaaca gaatcaagat cttctactcc tctgccaaca atttcttctt
      781 cagcagaaaa tacaaggcag aatggaagta atgattctga cagatacagt gacaatgaag
      841 aagactctaa aatagagctc aagcttgaga agagagaacc actaaagggc agagcaaaga
      901 ctccagtaac actcaagcaa agaagagttg agcacaatca gagctattct caagctggaa
      961 taactgagac tgaatggaca agtggatctt caaaaggcgg acctctgcag gcattaacta
     1021 gggaatctac aagagggtca agaagaactc caaggaaaag ggtggaaact tcagaacatt
     1081 ttcgtataga tggtccagta atttcagaga gtactcccat agctgaaact ataatggctt
     1141 caagcaacga atccttagtt gtcaataggg tgactggaaa tttcaagcat gcatctccta
     1201 ttctgccaat cactgaattc tcagacatac ccagaagagc accaaagaaa ccattgacaa
     1261 gagctgaagt gggagaaaaa acagaggaaa gaagagtaga aagggatatt cttaaggaaa
     1321 tgttccccta tgaagcatct acaccaacag gaattagtgc tagttgccgc agaccaatca
     1381 aaggggctgc aggccggcca ttagaactca gtgatttcag gatggaggag tctttttcat
     1441 ctaaatatgt tcctaagtat gttcccttgg cagatgtcaa gtcagaaaag acaaaaaagg
     1501 gacgctccat tcccgtatgg ataaaaattt tgctgtttgt tgttgtggca gtttttttgt
     1561 ttttggtcta tcaagctatg gaaaccaacc aagtaaatcc cttctctaat tttcttcatg
     1621 ttgaccctag aaaatccaac tgaatggtat ctctttggca cgttcaactt ggtctcctat
     1681 tttcaataac tgttgaaaaa catttgtgta cacttgttga ctccaagaac taaaaataat
     1741 gtgatttcgc ctcaataaat gtagtatttc attgaaaagc aaacaaaata tatataaatg
     1801 gacttcatta aaatgttttt gaactttgga ctagtaggag atcactttgt gccatatgaa
     1861 taatcttttt tagctctgga actttttgta ggctttattt ttttaatgtg ggcatcttat
     1921 ttcatttttg aaaaaatgta tatgtttttt gtgtatttgg gaaacgaagg gtgaaacatg
     1981 gtagtataat gtgaagctac acatttaaat acttagaatt cttacagaaa agattttaag
     2041 aattattctc tgctgaataa aaactgcaaa tatgtgaaac ataatgaaat tcagtaagag
     2101 gaaaagtaac ttggttgtac tttttgtaac tgcaacaaag tttgatggtg tttatgagga
     2161 aaagtacagc aataatctct tctgtaacct ttattaatag taatgttgtt gtagccctat
     2221 catactcact ttttaagaca cagtatcatg aaagtcctat ttcagtaaga cccatttaca
     2281 tacagtagat ttttagcaga gatcttttag tgtaacatac atattttaga gaattgttgg
     2341 ctagctgtac atgttttgaa aagctgttta gctagctata aggctataat tggaaatttg
     2401 tattttttat ttacagcaaa acatttattc agtcatccag tttgctacca aaatatgttt
     2461 tagataagtg tgtgtatgtt tgtttagaag ttagaaattg taaacactgg tcttatgttt
     2521 catttggatt cattattgca ttgtcttgtt accagaaaca aattttgccg agcttttttt
     2581 gccctatatt tcccagcata atttgattag aaagtacaaa aagggccagg cgcggtggct
     2641 tacgcctgta atcccagcac tttgggaggc cagggcgggt ggatcacgag gtcaagagat
     2701 caagaccatc ctggccaaca tggtgaaacc ccgtctctac taaaaataca aaaaaattag
     2761 ctgggcgtga tgatgtgcgc ctgtagtcct gtctactagg gagactgagg caggagaatc
     2821 gtttgaaccc aggaggcaga ggttgcagtg agcagagatt acgtcactgc actgtagcct
     2881 ggcgacagag caagactcca tctcaaaaaa aataaaaaag tacaaaaagt acttgctttt
     2941 atattacatc ataagcagta gttaataaag ttgtatactc ttaagaggtg ggcattatga
     3001 ttatttttta tttttttatt ttttatgaga tggagtctca ctcttgtcac ccagactgta
     3061 gtgcagtggc acgatctggg ctcgatgcaa cctctgcctc ccaggttcaa gcaattttcc
     3121 tgcctcggca gagacggggt ttcaccatgt tggccaggct ggtctcgaac ccctgacctc
     3181 aagtgatcag cccacctcag cttcccaaag tgctgggatt acaggtgtga tccactgcac
     3241 ccggccggca ttatgatttt gtgtactctt gaaatggtta tctttgtgga tgattttttt
     3301 ttttaagctg aaacttacct catgaataac ttgattaaag tagtaggtga ttaaaatttc
     3361 aatagaatca aatgagacaa aaattttaaa ctgactcatt tgagtttcaa ctttacagtc
     3421 attgaccata aagcacacta aaaatgtaag ttatttttaa atacatctga aataaaaata
     3481 cttactaaaa aggaagaagc cgaagatgta tatttagacc agcacacaat tttgatttca
     3541 attagcctta ttctaatatt tagcttttag atctttcata cacattttca cgtactttgc
     3601 aattgagacc agaaagactt gtaggtcttt ctgcagaatg agtgggtcct tgcaaagtga
     3661 gtgggaaact tactcctaga tcagaaatgt ttgcctctct gagtaaaatg tttctttcag
     3721 atgagccata gagggggcac cttttactca acttttcttt gttttgaaac tttgtttccc
     3781 atactgtttt cagccttttg tttataatta gaaattgtga gaagcttcat ttagtgttta
     3841 aaaatgtggg gagataaatc agacttaaca tgtatgtaag atcaattcac ttaaaagtat
     3901 ggtccaaata gcaaaaatag gaccaggtga aacatgtagt cattttttaa aaacatgtac
     3961 ttggtctttt gtgtgtgtct gttttattcc attagaataa atgtgtcctt gatgtaaatg
     4021 caaagcattt cttcctgatt aaattgtaga tgtagacttt acaatataat tcaataataa
     4081 aaagtaatta acctctagtt ttgtcgttgc aataaatggt tttcagatag cacaaa
//
LOCUS       NM_001032288            2110 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens ubiquitin conjugating enzyme E2 V1 (UBE2V1), transcript
            variant 4, mRNA.
ACCESSION   NM_001032288
VERSION     NM_001032288.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2110)
  AUTHORS   Elangovan M, Ka J, Pak B, Choi W, Oh SR, Jin SW and Yoo YJ.
  TITLE     Ubiquitin-conjugating enzyme V variant 1 enables cellular responses
            toward fibroblast growth factor signaling in endothelium
  JOURNAL   FASEB J 36 (1), e22103 (2022)
   PUBMED   34921695
  REMARK    GeneRIF: Ubiquitin-conjugating enzyme V variant 1 enables cellular
            responses toward fibroblast growth factor signaling in endothelium.
REFERENCE   2  (bases 1 to 2110)
  AUTHORS   Niu T, Wu Z and Xiao W.
  TITLE     Uev1A promotes breast cancer cell migration by up-regulating CT45A
            expression via the AKT pathway
  JOURNAL   BMC Cancer 21 (1), 1012 (2021)
   PUBMED   34503444
  REMARK    GeneRIF: Uev1A promotes breast cancer cell migration by
            up-regulating CT45A expression via the AKT pathway. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 2110)
  AUTHORS   Liwocha J, Krist DT, van der Heden van Noort GJ, Hansen FM, Truong
            VH, Karayel O, Purser N, Houston D, Burton N, Bostock MJ, Sattler M,
            Mann M, Harrison JS, Kleiger G, Ovaa H and Schulman BA.
  TITLE     Linkage-specific ubiquitin chain formation depends on a lysine
            hydrocarbon ruler
  JOURNAL   Nat Chem Biol 17 (3), 272-279 (2021)
   PUBMED   33288957
  REMARK    GeneRIF: Linkage-specific ubiquitin chain formation depends on a
            lysine hydrocarbon ruler.
REFERENCE   4  (bases 1 to 2110)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 2110)
  AUTHORS   Hofmann RM and Pickart CM.
  TITLE     Noncanonical MMS2-encoded ubiquitin-conjugating enzyme functions in
            assembly of novel polyubiquitin chains for DNA repair
  JOURNAL   Cell 96 (5), 645-653 (1999)
   PUBMED   10089880
REFERENCE   6  (bases 1 to 2110)
  AUTHORS   Ma L, Broomfield S, Lavery C, Lin SL, Xiao W and Bacchetti S.
  TITLE     Up-regulation of CIR1/CROC1 expression upon cell immortalization and
            in tumor-derived human cell lines
  JOURNAL   Oncogene 17 (10), 1321-1326 (1998)
   PUBMED   9771976
REFERENCE   7  (bases 1 to 2110)
  AUTHORS   Xiao W, Lin SL, Broomfield S, Chow BL and Wei YF.
  TITLE     The products of the yeast MMS2 and two human homologs (hMMS2 and
            CROC-1) define a structurally and functionally conserved Ubc-like
            protein family
  JOURNAL   Nucleic Acids Res 26 (17), 3908-3914 (1998)
   PUBMED   9705497
REFERENCE   8  (bases 1 to 2110)
  AUTHORS   Thomson TM, Khalid H, Lozano JJ, Sancho E and Arino J.
  TITLE     Role of UEV-1A, a homologue of the tumor suppressor protein TSG101,
            in protection from DNA damage
  JOURNAL   FEBS Lett 423 (1), 49-52 (1998)
   PUBMED   9580084
REFERENCE   9  (bases 1 to 2110)
  AUTHORS   Sancho E, Vila MR, Sanchez-Pulido L, Lozano JJ, Paciucci R, Nadal M,
            Fox M, Harvey C, Bercovich B, Loukili N, Ciechanover A, Lin SL, Sanz
            F, Estivill X, Valencia A and Thomson TM.
  TITLE     Role of UEV-1, an inactive variant of the E2 ubiquitin-conjugating
            enzymes, in in vitro differentiation and cell cycle behavior of
            HT-29-M6 intestinal mucosecretory cells
  JOURNAL   Mol Cell Biol 18 (1), 576-589 (1998)
   PUBMED   9418904
REFERENCE   10  (bases 1 to 2110)
  AUTHORS   Rothofsky ML and Lin SL.
  TITLE     CROC-1 encodes a protein which mediates transcriptional activation
            of the human FOS promoter
  JOURNAL   Gene 195 (2), 141-149 (1997)
   PUBMED   9305758
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.238713.1,
            SRR1803617.128390.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371674.8/ ENSP00000360739.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU934624.1, BC000468.2 and
            BX647511.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001032288.2.
            Summary: Ubiquitin-conjugating E2 enzyme variant proteins
            constitute a distinct subfamily within the E2 protein family. They
            have sequence similarity to other ubiquitin-conjugating enzymes but
            lack the conserved cysteine residue that is critical for the
            catalytic activity of E2s. The protein encoded by this gene is
            located in the nucleus and can cause transcriptional activation of
            the human FOS proto-oncogene. It is thought to be involved in the
            control of differentiation by altering cell cycle behavior.
            Alternatively spliced transcript variants encoding multiple
            isoforms have been described for this gene, and multiple
            pseudogenes of this gene have been identified. Co-transcription of
            this gene and the neighboring upstream gene generates a rare
            transcript (Kua-UEV), which encodes a fusion protein comprised of
            sequence sharing identity with each individual gene product.
            [provided by RefSeq, Apr 2012].
            Transcript Variant: This variant (4) differs in the 5' UTR and
            initiates translation at an alternate start codon, compared to
            variant 1. The encoded isoform (d) is shorter and has a distinct
            N-terminus, compared to isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2110
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.13"
     gene            1..2110
                     /gene="UBE2V1"
                     /gene_synonym="CIR1; CROC-1; CROC1; UBE2V; UEV-1; UEV1;
                     UEV1A"
                     /note="ubiquitin conjugating enzyme E2 V1"
                     /db_xref="GeneID:7335"
                     /db_xref="HGNC:HGNC:12494"
                     /db_xref="MIM:602995"
     CDS             23..466
                     /gene="UBE2V1"
                     /gene_synonym="CIR1; CROC-1; CROC1; UBE2V; UEV-1; UEV1;
                     UEV1A"
                     /note="isoform d is encoded by transcript variant 4;
                     DNA-binding protein; TRAF6-regulated IKK activator 1 beta
                     Uev1A"
                     /codon_start=1
                     /product="ubiquitin-conjugating enzyme E2 variant 1 isoform
                     d"
                     /protein_id="NP_001027459.1"
                     /db_xref="CCDS:CCDS33483.1"
                     /db_xref="GeneID:7335"
                     /db_xref="HGNC:HGNC:12494"
                     /db_xref="MIM:602995"
                     /translation="MAATTGSGVKVPRNFRLLEELEEGQKGVGDGTVSWGLEDDEDMTL
                     TRWTGMIIGPPRTIYENRIYSLKIECGPKYPEAPPFVRFVTKINMNGVNSSNGVVDPRA
                     ISVLAKWQNSYSIKVVLQELRRLMMSKENMKLPQPPEGQCYSN"
     misc_feature    26..28
                     /gene="UBE2V1"
                     /gene_synonym="CIR1; CROC-1; CROC1; UBE2V; UEV-1; UEV1;
                     UEV1A"
                     /note="N-acetylalanine. /evidence=ECO:0000269|Ref.8,
                     ECO:0007744|PubMed:22814378, ECO:0007744|PubMed:25944712;
                     propagated from UniProtKB/Swiss-Prot (Q13404.2);
                     acetylation site"
     regulatory      1843..1848
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBE2V1"
                     /gene_synonym="CIR1; CROC-1; CROC1; UBE2V; UEV-1; UEV1;
                     UEV1A"
                     /note="hexamer: AATAAA"
     polyA_site      1869
                     /gene="UBE2V1"
                     /gene_synonym="CIR1; CROC-1; CROC1; UBE2V; UEV-1; UEV1;
                     UEV1A"
                     /note="major polyA site"
     regulatory      2081..2086
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBE2V1"
                     /gene_synonym="CIR1; CROC-1; CROC1; UBE2V; UEV-1; UEV1;
                     UEV1A"
                     /note="hexamer: AATAAA"
     polyA_site      2110
                     /gene="UBE2V1"
                     /gene_synonym="CIR1; CROC-1; CROC1; UBE2V; UEV-1; UEV1;
                     UEV1A"
ORIGIN
        1 cttcaagcaa gagcgacgca agatggcagc caccacgggc tcgggagtaa aagtccctcg
       61 caatttccga ctgttggaag aactcgaaga aggccagaaa ggagtaggag atggcacagt
      121 tagctggggt ctagaagatg acgaagacat gacacttaca agatggacag ggatgataat
      181 tgggcctcca agaacaattt atgaaaaccg aatatacagc cttaaaatag aatgtggacc
      241 taaataccca gaagcacccc cctttgtaag atttgtaaca aaaattaata tgaatggagt
      301 aaatagttct aatggagtgg tggacccaag agccatatca gtgctagcaa aatggcagaa
      361 ttcatatagc atcaaagttg tcctgcaaga gcttcggcgc ctaatgatgt ctaaagaaaa
      421 tatgaaactc cctcagccgc ccgaaggaca gtgttacagc aattaatcaa aaagaaaaac
      481 cacaggccct tccccttccc cccaattcga tttaatcagt cttcattttc cacagtagta
      541 aattttctag atacgtcttg tagacctcaa agtaccggaa aggaagctcc cattcaaagg
      601 aaatttatct taagatactg taaatgatac taattttttg tccatttgaa atatataagt
      661 tgtgctataa caaatcatcc tgtcaagtgt aaccactgtc cacgtagttg aacttctggg
      721 atcaagaaag tctatttaaa ttgattccca tcataactgg tggggcacat ctaactcaac
      781 tgtgaaaaga cacatcacac aatcaccttg ctgctgatta cacggcctgg ggtctctgcc
      841 ttctcccctt accctcccgc ctcccaccct ccctgcaaca acagccctct agcctggggg
      901 gcttgttaga gtagatgtga aggtttcagg tcgcagcctg tgggactact gctaggtgtg
      961 tggggtgttt cgcctgcacc cctggtttct ttaagtctta agtgatgccc cttccaaacc
     1021 atcatcctgt ccccacgctc ctccactccc gcccttggcc gaagcataga ttgtaacccc
     1081 tccactcccc tctgagattg gccttcggtg aggaattcag ggctttcccc atatcttctc
     1141 tcccccacct ttatcgaggg gtgctgcttt ttctccctcc tcctcaagtt cctttttgca
     1201 ccgtcaccac ccaacacctt ccatgacact tccttgcttt ggccagaagc catcaggtaa
     1261 ggttggaaag agcctctgac ctcccttgtt tagttttgga accatactca ctcactctcc
     1321 accagcctgg gaaatgaata ttgggtcctc agccctgcca ccctctgctg tcatcagctg
     1381 atgcattgtt tttagctcag gttttgataa ggtgaaaaga atagtcacca gggttactca
     1441 gacctgccag ctctcggagt ccttggtggt tgaacttgga gaaagaccgc atgaagatac
     1501 ttgtaagcac acatgatccc tctgaattgt tttactttcc tgtaactgct tttgctttta
     1561 aaaattgaag aagttttaaa cagggctttc atttggtcat ccttgcaatc cattggggtc
     1621 tagtttggaa tctgacaact ggaacaaaaa gaaccttgaa tccggtgcat gccttggttt
     1681 tggtgctgct gctgcttccc aagatcctca gcagggatta agaaggaacc cggtgtgcac
     1741 agcagatccc cgaaattggt gggcttgacc tcctggcaaa ttgctgcgtc tttccacttg
     1801 ctgttcagga ccactaaatg ctgaaatgtg gatgcatacc gaaataaaag caattcattg
     1861 tgtactaaag gttttttttt tttttttaat ttagtatttg tgtaaaacca ccttttgaag
     1921 cagcaactat caagtctgaa aagcaattga tgtttccatt aatctttttc tggggggaaa
     1981 accttagttc taaggattta acatcctgta agtgaagttt aacataacag tattccataa
     2041 gcagcctttt tattgtcaga ccattgcctg attttaatat aataaaaaaa aagtgtgcgt
     2101 taatatttaa
//
LOCUS       NM_001032291            1720 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens proline and serine rich coiled-coil 1 (PSRC1),
            transcript variant 3, mRNA.
ACCESSION   NM_001032291
VERSION     NM_001032291.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1720)
  AUTHORS   Nehlig A, Seiler C, Steblyanko Y, Dingli F, Arras G, Loew D, Welburn
            J, Prigent C, Barisic M and Nahmias C.
  TITLE     Reciprocal regulation of Aurora kinase A and ATIP3 in the control of
            metaphase spindle length
  JOURNAL   Cell Mol Life Sci 78 (4), 1765-1779 (2021)
   PUBMED   32789689
  REMARK    GeneRIF: Reciprocal regulation of Aurora kinase A and ATIP3 in the
            control of metaphase spindle length.
REFERENCE   2  (bases 1 to 1720)
  AUTHORS   Rodriguez-Arellano ME, Solares-Tlapechco J, Costa-Urrutia P,
            Cardenas-Hernandez H, Vallejo-Gomez M, Granados J and Salas-Padilla
            S.
  TITLE     Association of the PSRC1 rs599839 Variant with Coronary Artery
            Disease in a Mexican Population
  JOURNAL   Medicina (Kaunas) 56 (9), 427 (2020)
   PUBMED   32858814
  REMARK    GeneRIF: Association of the PSRC1 rs599839 Variant with Coronary
            Artery Disease in a Mexican Population. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1720)
  AUTHORS   Keller M, Gebhardt C, Huth S, Schleinitz D, Heyne H, Scholz M,
            Stumvoll M, Bottcher Y, Tonjes A and Kovacs P.
  TITLE     Genetically programmed changes in transcription of the novel
            progranulin regulator
  JOURNAL   J Mol Med (Berl) 98 (8), 1139-1148 (2020)
   PUBMED   32620998
  REMARK    GeneRIF: Genetically programmed changes in transcription of the
            novel progranulin regulator.
REFERENCE   4  (bases 1 to 1720)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1720)
  AUTHORS   Sanchez Munoz-Torrero JF, Rivas MD, Zamorano J, Joya-Vazquez PP, de
            Isla LP, Padro T, Mata P and The Safeheart Investigators.
  TITLE     Multivariate analysis for coronary heart disease in heterozygote
            familial hypercholesterolemia patients
  JOURNAL   Per Med 15 (2), 87-92 (2018)
   PUBMED   29714125
  REMARK    GeneRIF: the frequency of SNP rs599839 located in the 3' UTR of the
            PSRC1 gene in patients with genetically confirmed diagnosis of
            heterozygous familial hypercholesterolemia was analyzed. It was
            found that there was no association between rs599839 alleles and
            coronary heart disease in the multivariate analysis.
REFERENCE   6  (bases 1 to 1720)
  AUTHORS   Hsieh WJ, Hsieh SC, Chen CC and Wang FF.
  TITLE     Human DDA3 is an oncoprotein down-regulated by p53 and DNA damage
  JOURNAL   Biochem Biophys Res Commun 369 (2), 567-572 (2008)
   PUBMED   18291097
  REMARK    GeneRIF: Together our results show that hDDA3 is a p53- and
            DNA-damage down-regulated target that exhibits oncogenic
            characteristics.
REFERENCE   7  (bases 1 to 1720)
  AUTHORS   Jang CY, Wong J, Coppinger JA, Seki A, Yates JR 3rd and Fang G.
  TITLE     DDA3 recruits microtubule depolymerase Kif2a to spindle poles and
            controls spindle dynamics and mitotic chromosome movement
  JOURNAL   J Cell Biol 181 (2), 255-267 (2008)
   PUBMED   18411309
  REMARK    GeneRIF: DDA3 represents a new class of microtubule-destabilizing
            protein that controls spindle dynamics and mitotic progression by
            regulating microtubule depolymerases.
REFERENCE   8  (bases 1 to 1720)
  AUTHORS   Hsieh PC, Chang JC, Sun WT, Hsieh SC, Wang MC and Wang FF.
  TITLE     p53 downstream target DDA3 is a novel microtubule-associated protein
            that interacts with end-binding protein EB3 and activates
            beta-catenin pathway
  JOURNAL   Oncogene 26 (34), 4928-4940 (2007)
   PUBMED   17310996
REFERENCE   9  (bases 1 to 1720)
  AUTHORS   Lo PK and Wang FF.
  TITLE     Cloning and characterization of human and mouse DDA3 genes
  JOURNAL   Biochim Biophys Acta 1579 (2-3), 214-218 (2002)
   PUBMED   12427559
  REMARK    GeneRIF: molecular cloning, sequence analysis and gene expression
REFERENCE   10  (bases 1 to 1720)
  AUTHORS   Hsieh SC, Lo PK and Wang FF.
  TITLE     Mouse DDA3 gene is a direct transcriptional target of p53 and p73
  JOURNAL   Oncogene 21 (19), 3050-3057 (2002)
   PUBMED   12082536
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.272385.1, AK289593.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369909.7/ ENSP00000358925.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BJ992594.1, AK289593.1,
            AL390252.9 and BI857497.1.
            On Aug 14, 2020 this sequence version replaced NM_001032291.2.
            Summary: This gene encodes a proline-rich protein that is a target
            for regulation by the tumor suppressor protein p53. The encoded
            protein plays an important role in mitosis by recruiting and
            regulating microtubule depolymerases that destabalize microtubules.
            Alternatively spliced transcript variants encoding different
            isoforms have been described. [provided by RefSeq, Apr 2014].
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 3 encode the same isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1720
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..1720
                     /gene="PSRC1"
                     /gene_synonym="DDA3; FP3214"
                     /note="proline and serine rich coiled-coil 1"
                     /db_xref="GeneID:84722"
                     /db_xref="HGNC:HGNC:24472"
                     /db_xref="MIM:613126"
     misc_feature    92..94
                     /gene="PSRC1"
                     /gene_synonym="DDA3; FP3214"
                     /note="upstream in-frame stop codon"
     CDS             122..1123
                     /gene="PSRC1"
                     /gene_synonym="DDA3; FP3214"
                     /note="isoform a is encoded by transcript variant 3;
                     differential display and activated by p53; p53-regulated
                     DDA3; proline/serine-rich coiled-coil protein 1;
                     proline/serine-rich coiled-coil 1"
                     /codon_start=1
                     /product="proline/serine-rich coiled-coil protein 1 isoform
                     a"
                     /protein_id="NP_001027462.1"
                     /db_xref="CCDS:CCDS797.1"
                     /db_xref="GeneID:84722"
                     /db_xref="HGNC:HGNC:24472"
                     /db_xref="MIM:613126"
                     /translation="MEDLEEDVRFIVDETLDFGGLSPSDSREEEDITVLVTPEKPLRRG
                     LSHRSDPNAVAPAPQGVRLSLGPLSPEKLEEILDEANRLAAQLEQCALQDRESAGEGLG
                     PRRVKPSPRRETFVLKDSPVRDLLPTVNSLTRSTPSPSSLTPRLRSNDRKGSVRALRAT
                     SGKRPSNMKRESPTCNLFPASKSPASSPLTRSTPPVRGRAGPSGRAAASPPTPIRSVLA
                     PQPSTSNSQRLPRPQGAAAKSSSQLPIPSAIPRPASRMPLTSRSVPPGRGALPPDSLST
                     RKGLPRPSTAGHRVRESGHKVPVSQRLNLPVMGATRSNLQPPRKVAVPGPTR"
     regulatory      1689..1694
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSRC1"
                     /gene_synonym="DDA3; FP3214"
                     /note="hexamer: AATAAA"
     polyA_site      1720
                     /gene="PSRC1"
                     /gene_synonym="DDA3; FP3214"
                     /note="major polyA site"
ORIGIN
        1 gattcccggg actaggttgc gggagaaagc ctgttgcgtg gaagataagg cggcgcggga
       61 agtggacaca gggtgggctg gagctcagat ctaactggac tctcgctcct gctggctgga
      121 catggaggat ttggaggaag atgtaaggtt tattgtggat gagaccttgg actttggggg
      181 gctgtcacca tctgacagcc gtgaggagga agacataaca gtgttggtga ctccagagaa
      241 accacttcga cggggcctct cccaccgaag tgacccaaat gcagtggcac ctgcccccca
      301 gggtgtgagg ctcagcctag gccccctcag tccagagaag ctggaggaga tcctcgatga
      361 ggccaaccgg ctggccgctc agctggagca gtgtgccctg caggatcggg agagcgcagg
      421 cgagggcctg gggcctcgcc gagtgaagcc cagtcctcgg cgggagacct ttgtgctgaa
      481 ggatagtcct gtccgagacc tgctgcccac tgtgaactct ttgacgcgga gcaccccctc
      541 cccaagcagc ctgacgcctc gactccggag taatgatagg aaggggtcag tcagggctct
      601 ccgggctaca tctggaaaga ggccctccaa catgaagagg gagtcaccca cttgcaatct
      661 gttccctgca tccaaaagcc cagcatcttc tcctcttacc cgatcgactc ccccagtccg
      721 ggggagagcc gggcccagtg ggagagcagc agccagccca cccaccccca tcagatccgt
      781 cctggcccca cagccttcta ccagcaactc tcaacgcctg ccccggccgc agggagcagc
      841 tgctaaatct tccagtcaac tgcccattcc ctcggccatc cccaggcctg ccagccgaat
      901 gccactcacc agccggagtg tgccacctgg cagaggtgcc ctacctccgg attctctgtc
      961 aactcgaaaa gggcttccaa gaccaagcac tgcaggacac agagtgcggg aaagtggaca
     1021 caaggttcct gtttcccagc gactaaatct tcctgtcatg ggtgccactc gcagcaatct
     1081 gcagcccccc aggaaagtgg cagtcccagg acctaccagg taaagagatc aggacagcaa
     1141 gcaagacttc agtagcaaac cactacagtc agtacctgga ctcgcctcta cccagcagac
     1201 cctgactcca gcagattctg gcccagggac aggaggaaga gatgccacca gggctggtct
     1261 cccaggagta gagaccatgg gaaatggggt ggattaggat tgagctggag aagacttaaa
     1321 ctctctgggt tgaaagaaga ttaggggaaa agaggtcacc ttccagcagt gaaatgaaca
     1381 aatagaagat gagaagtaca ggcaagtggt ttgtctttat ccacccccac tgttgtggtc
     1441 agccccagag aattttatct tcttccttgg cattggttca ctggacattt ccacgtgagc
     1501 ggcctccgta gctaacctcc ctgccctctg aggagccatc ttcctgaatc gcattctcta
     1561 ctggactctg gcctgcttgg agaggtggca gcaggcacct ggtcttcaga aattgtttcc
     1621 tgtgaattct gtgactccta ataggccagt ttgtgataag cttactctat gagtcttcat
     1681 ttttctaaaa taaagtgaat gtatttttat attctctgta
//
LOCUS       NM_001032296            9605 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens serine/threonine kinase 24 (STK24), transcript variant
            2, mRNA.
ACCESSION   NM_001032296
VERSION     NM_001032296.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9605)
  AUTHORS   Caputo M, Xia Y, Anand SK, Cansby E, Andersson E, Marschall HU,
            Konigsrainer A, Peter A and Mahlapuu M.
  TITLE     STE20-type kinases MST3 and MST4 promote the progression of
            hepatocellular carcinoma: Evidence from human cell culture and
            expression profiling of liver biopsies
  JOURNAL   FASEB J 37 (8), e23105 (2023)
   PUBMED   37490000
  REMARK    GeneRIF: STE20-type kinases MST3 and MST4 promote the progression of
            hepatocellular carcinoma: Evidence from human cell culture and
            expression profiling of liver biopsies.
REFERENCE   2  (bases 1 to 9605)
  AUTHORS   Lai S, Wang D, Sun W and Cao X.
  TITLE     Serine/threonine-protein kinase STK24 induces tumorigenesis by
            regulating the STAT3/VEGFA signaling pathway
  JOURNAL   J Biol Chem 299 (3), 102961 (2023)
   PUBMED   36720310
  REMARK    GeneRIF: Serine/threonine-protein kinase STK24 induces tumorigenesis
            by regulating the STAT3/VEGFA signaling pathway.
REFERENCE   3  (bases 1 to 9605)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   4  (bases 1 to 9605)
  AUTHORS   Sugden PH, McGuffin LJ and Clerk A.
  TITLE     SOcK, MiSTs, MASK and STicKs: the GCKIII (germinal centre kinase
            III) kinases and their heterologous protein-protein interactions
  JOURNAL   Biochem J 454 (1), 13-30 (2013)
   PUBMED   23889253
  REMARK    GeneRIF: This review notes that in the SOK1 and MST4 germinal center
            kinase III family of proteins, exon 1 encodes a 5' untranslated
            region, but this is not the case for MST3. Review article
REFERENCE   5  (bases 1 to 9605)
  AUTHORS   Stegert MR, Hergovich A, Tamaskovic R, Bichsel SJ and Hemmings BA.
  TITLE     Regulation of NDR protein kinase by hydrophobic motif
            phosphorylation mediated by the mammalian Ste20-like kinase MST3
  JOURNAL   Mol Cell Biol 25 (24), 11019-11029 (2005)
   PUBMED   16314523
  REMARK    GeneRIF: Activation of NDR2 is a multistep process involving
            phosphorylation of the hydrophobic motif site Thr444/2 by MST3.
REFERENCE   6  (bases 1 to 9605)
  AUTHORS   Lu TJ, Huang CY, Yuan CJ, Lee YC, Leu TH, Chang WC, Lu TL, Jeng WY
            and Lai MD.
  TITLE     Zinc ion acts as a cofactor for serine/threonine kinase MST3 and has
            a distinct role in autophosphorylation of MST3
  JOURNAL   J Inorg Biochem 99 (6), 1306-1313 (2005)
   PUBMED   15917084
REFERENCE   7  (bases 1 to 9605)
  AUTHORS   Lee WS, Hsu CY, Wang PL, Huang CY, Chang CH and Yuan CJ.
  TITLE     Identification and characterization of the nuclear import and export
            signals of the mammalian Ste20-like protein kinase 3
  JOURNAL   FEBS Lett 572 (1-3), 41-45 (2004)
   PUBMED   15304321
  REMARK    GeneRIF: Mst3 contains signals which may cooperate to control the
            subcellular distribution of Mst3.
REFERENCE   8  (bases 1 to 9605)
  AUTHORS   Huang CY, Wu YM, Hsu CY, Lee WS, Lai MD, Lu TJ, Huang CL, Leu TH,
            Shih HM, Fang HI, Robinson DR, Kung HJ and Yuan CJ.
  TITLE     Caspase activation of mammalian sterile 20-like kinase 3 (Mst3).
            Nuclear translocation and induction of apoptosis
  JOURNAL   J Biol Chem 277 (37), 34367-34374 (2002)
   PUBMED   12107159
  REMARK    GeneRIF: Proteolytic activation of Mst3 by caspases.
REFERENCE   9  (bases 1 to 9605)
  AUTHORS   Zhou TH, Ling K, Guo J, Zhou H, Wu YL, Jing Q, Ma L and Pei G.
  TITLE     Identification of a human brain-specific isoform of mammalian
            STE20-like kinase 3 that is regulated by cAMP-dependent protein
            kinase
  JOURNAL   J Biol Chem 275 (4), 2513-2519 (2000)
   PUBMED   10644707
REFERENCE   10  (bases 1 to 9605)
  AUTHORS   Schinkmann K and Blenis J.
  TITLE     Cloning and characterization of a human STE20-like protein kinase
            with unusual cofactor requirements
  JOURNAL   J Biol Chem 272 (45), 28695-28703 (1997)
   PUBMED   9353338
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: EU668350.1, BC065378.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467146
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000539966.6/ ENSP00000442539.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356423.15 and AL137249.29.
            On May 20, 2020 this sequence version replaced NM_001032296.3.
            Summary: This gene encodes a serine/threonine protein kinase that
            functions upstream of mitogen-activated protein kinase (MAPK)
            signaling. The encoded protein is cleaved into two chains by
            caspases; the N-terminal fragment (MST3/N) translocates to the
            nucleus and promotes programmed cells death. There is a pseudogene
            for this gene on chromosome X. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Nov 2013].
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at an
            alternate start codon, compared to variant 1. The encoded isoform
            (b) has a distinct N-terminus and is shorter than isoform a.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..9605
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.2"
     gene            1..9605
                     /gene="STK24"
                     /gene_synonym="HEL-S-95; MST3; MST3B; STE20; STK3"
                     /note="serine/threonine kinase 24"
                     /db_xref="GeneID:8428"
                     /db_xref="HGNC:HGNC:11403"
                     /db_xref="MIM:604984"
     misc_feature    160..162
                     /gene="STK24"
                     /gene_synonym="HEL-S-95; MST3; MST3B; STE20; STK3"
                     /note="upstream in-frame stop codon"
     CDS             322..1617
                     /gene="STK24"
                     /gene_synonym="HEL-S-95; MST3; MST3B; STE20; STK3"
                     /EC_number="2.7.11.1"
                     /note="isoform b precursor is encoded by transcript variant
                     2; STE20-like kinase 3; sterile 20-like kinase 3;
                     serine/threonine kinase 24 (STE20 homolog, yeast);
                     serine/threonine-protein kinase 24; STE20-like kinase MST3;
                     mammalian STE20-like protein kinase 3; epididymis secretory
                     protein Li 95"
                     /codon_start=1
                     /product="serine/threonine-protein kinase 24 isoform b
                     precursor"
                     /protein_id="NP_001027467.2"
                     /db_xref="CCDS:CCDS32001.1"
                     /db_xref="GeneID:8428"
                     /db_xref="HGNC:HGNC:11403"
                     /db_xref="MIM:604984"
                     /translation="MAHSPVQSGLPGMQNLKADPEELFTKLEKIGKGSFGEVFKGIDNR
                     TQKVVAIKIIDLEEAEDEIEDIQQEITVLSQCDSPYVTKYYGSYLKDTKLWIIMEYLGG
                     GSALDLLEPGPLDETQIATILREILKGLDYLHSEKKIHRDIKAANVLLSEHGEVKLADF
                     GVAGQLTDTQIKRNTFVGTPFWMAPEVIKQSAYDSKADIWSLGITAIELARGEPPHSEL
                     HPMKVLFLIPKNNPPTLEGNYSKPLKEFVEACLNKEPSFRPTAKELLKHKFILRNAKKT
                     SYLTELIDRYKRWKAEQSHDDSSSEDSDAETDGQASGGSDSGDWIFTIREKDPKNLENG
                     ALQPSDLDRNKMKDIPKRPFSQCLSTIISPLFAELKEKSQACGGNLGSIEELRGAIYLA
                     EEACPGISDTMVAQLVQRLQRYSLSGGGTSSH"
     mat_peptide     322..1260
                     /gene="STK24"
                     /gene_synonym="HEL-S-95; MST3; MST3B; STE20; STK3"
                     /product="mammalian STE20-like protein kinase 3 N-terminal
                     chain; MST3/N"
     mat_peptide     1261..1614
                     /gene="STK24"
                     /gene_synonym="HEL-S-95; MST3; MST3B; STE20; STK3"
                     /product="mammalian STE20-like protein kinase 3 C-terminal
                     chain; MST3/C"
     regulatory      2145..2150
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STK24"
                     /gene_synonym="HEL-S-95; MST3; MST3B; STE20; STK3"
                     /note="hexamer: AGTAAA"
     polyA_site      2167
                     /gene="STK24"
                     /gene_synonym="HEL-S-95; MST3; MST3B; STE20; STK3"
     regulatory      2610..2615
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STK24"
                     /gene_synonym="HEL-S-95; MST3; MST3B; STE20; STK3"
                     /note="hexamer: AATAAA"
     polyA_site      2631
                     /gene="STK24"
                     /gene_synonym="HEL-S-95; MST3; MST3B; STE20; STK3"
                     /note="major polyA site"
     regulatory      3423..3428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STK24"
                     /gene_synonym="HEL-S-95; MST3; MST3B; STE20; STK3"
                     /note="hexamer: AATAAA"
     polyA_site      3444
                     /gene="STK24"
                     /gene_synonym="HEL-S-95; MST3; MST3B; STE20; STK3"
     regulatory      4569..4574
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STK24"
                     /gene_synonym="HEL-S-95; MST3; MST3B; STE20; STK3"
                     /note="hexamer: AATAAA"
     polyA_site      4589
                     /gene="STK24"
                     /gene_synonym="HEL-S-95; MST3; MST3B; STE20; STK3"
     regulatory      9584..9589
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STK24"
                     /gene_synonym="HEL-S-95; MST3; MST3B; STE20; STK3"
                     /note="hexamer: AATAAA"
     polyA_site      9605
                     /gene="STK24"
                     /gene_synonym="HEL-S-95; MST3; MST3B; STE20; STK3"
ORIGIN
        1 actccggctc cagcggccag cgcgcgcggg cccaggccgc ccggctccag cccagcagta
       61 gcggcagcag cggcggcggc ggcagtgcgc gcgaggccct gcgcccccag cagctcctcc
      121 ctggcgccgt gcatggagac gcggcccgcc acccgccgct gagcccccgc cgcccggccg
      181 ggacccgcca gggctggggt ggcctcgggc tccggccggc cccgccgccc gagggctgcg
      241 cgcggcccgc gggcctcgcc gccccgcgcg gatcgtcgcg gcccggccgt cccgtcccag
      301 gaagtggccg tcctgagcgc catggctcac tccccggtgc agtcgggcct gcccggcatg
      361 cagaacctaa aggcagaccc agaagagctt tttacaaaac tagagaaaat tgggaagggc
      421 tcctttggag aggtgttcaa aggcattgac aatcggactc agaaagtggt tgccataaag
      481 atcattgatc tggaagaagc tgaagatgag atagaggaca ttcaacaaga aatcacagtg
      541 ctgagtcagt gtgacagtcc atatgtaacc aaatattatg gatcctatct gaaggataca
      601 aaattatgga taataatgga atatcttggt ggaggctccg cactagatct attagaacct
      661 ggcccattag atgaaaccca gatcgctact atattaagag aaatactgaa aggactcgat
      721 tatctccatt cggagaagaa aatccacaga gacattaaag cggccaacgt cctgctgtct
      781 gagcatggcg aggtgaagct ggcggacttt ggcgtggctg gccagctgac agacacccag
      841 atcaaaagga acaccttcgt gggcacccca ttctggatgg cacccgaggt catcaaacag
      901 tcggcctatg actcgaaggc agacatctgg tccctgggca taacagctat tgaacttgca
      961 agaggggaac cacctcattc cgagctgcac cccatgaaag ttttattcct cattccaaag
     1021 aacaacccac cgacgttgga aggaaactac agtaaacccc tcaaggagtt tgtggaggcc
     1081 tgtttgaata aggagccgag ctttagaccc actgctaagg agttattgaa gcacaagttt
     1141 atactacgca atgcaaagaa aacttcctac ttgaccgagc tcatcgacag gtacaagaga
     1201 tggaaggccg agcagagcca tgacgactcg agctccgagg attccgacgc ggaaacagat
     1261 ggccaagcct cggggggcag tgattctggg gactggatct tcacaatccg agaaaaagat
     1321 cccaagaatc tcgagaatgg agctcttcag ccatcggact tggacagaaa taagatgaaa
     1381 gacatcccga agaggccttt ctctcagtgt ttatctacaa ttatttctcc tctgtttgca
     1441 gagttgaagg agaagagcca ggcgtgcgga gggaacttgg ggtccattga agagctgcga
     1501 ggggccatct acctagcgga ggaggcgtgc cctggcatct ccgacaccat ggtggcccag
     1561 ctcgtgcagc ggctccagag atactctcta agtggtggag gaacttcatc ccactgaaat
     1621 tcctttggca tttggggttt tgtttttcct tttttccttc ttcatcctcc tcctttttta
     1681 aaagtcaacg agagccttcg ctgactccac cgaagaggtg cgccactggg agccacccca
     1741 gcgccaggcg cccgtccagg gacacacaca gtcttcactg tgctgcagcc agatgaagtc
     1801 tctcagatgg gtggggaggg tcagctcctt ccagcgatca ttttatttta ttttattact
     1861 tttgttttta attttaacca tagtgcacat attccaggaa agtgtcttta aaaacaaaaa
     1921 caaaccctga aatgtatatt tgggattatg ataaggcaac taaagacatg aaacctcagg
     1981 tatcctgctt taagttgata actccctctg ggagctggag aatcgctctg gtggatgggt
     2041 gtacagattt gtatataatg tcatttttac ggaaaccctt tcggcgtgca taaggaatca
     2101 ctgtgtacaa actggccaag tgcttctgta gataacgtca gtggagtaaa tattcgacag
     2161 gccataactt gagtctattg ccttgccttt attacatgta cattttgaat tctgtgacca
     2221 gtgatttggg ttttattttg tatttgcagg gtttgtcatt aataattaat gcccctctct
     2281 tacagaacac tcctatttgt acctcaacaa atgcaaattt tccccgtttg ccctacgccc
     2341 cttttggtac acctagaggt tgatttcctt tttcatcgat ggtactattt cttagtgttt
     2401 taaattggaa catatcttgc ctcatgaagc tttaaattat aattttcagt ttctccccat
     2461 gaagcgctct cgtctgacat ttgtttggaa tcgtgccact gctggtctgc gccagatgta
     2521 ccgtcctttc caatacgatt ttctgttgca ccttgtagtg gattctgcat atcatctttc
     2581 ccacctaaaa atgtctgaat gcttacacaa ataaatttta taacacgctt attttgcata
     2641 ctccttgaaa tgtgactctt cagaggacag ggcacctgct gtgtatgtgt ggccgtgcgt
     2701 gtgtactcgt ggctgtgtgt gtgtgatgag acactttgga agactccagg gagaagtccc
     2761 caggcctgga gctgccgagt gcccaggtca gcgccctgga ctgcttgcgc acttgctcac
     2821 cgagatgatg cagttggagg ttgctgatct gtgcgattgc tgtagcggtt gccggggacc
     2881 ttaagagtta ttttgcttct ctggaagggg cctatgcttg ctaggcaggc agccagtgtg
     2941 tctgtttttc ttggtttgct gtgggacctt gcttggcgag ggggaaaatc tctgggtttc
     3001 tggagtggga gggttcgtgc agcagctgtt gactggtaca tgaagcattc ttttatgttt
     3061 gttgaagctg atgattgaca tctcccgtgg gtgtgccagt tcttgtggag ttaagacagg
     3121 atttttggaa gcaaggaagt tagtgggtga gcttggggat gtagctcagc tatctgctgg
     3181 tctagtggcc tctaagctat agggagggga cagagccctg agctacagat gcttgagtgg
     3241 gttattgtgt cggtttgcta gtgcagtctg gtttttaagc tctaaaattg aggtatttta
     3301 ttagaagtgg atttgggttg aactcttaat ttgtataagg gatatatttt ggttggggaa
     3361 atagaactga gttgctaatt cttattgtac tcattactcc atacaagaat gttatgttga
     3421 ataataaaat tggagaagat ttcattttgt gtttccaggg agtattctgt gtggggaact
     3481 gtttccttac gtgaggccgg cggcataagt caaagatgag ttttgtcctt gcgaatcaca
     3541 cagattgagt ctgtgttccc cagggtgtgc cgttacctga tttttaagtg agccagggcg
     3601 gacagcagct tttctgattt acagagttct tcagatttac aaatggacaa tgacatcaca
     3661 gtttttagca ctgaagccag tctcatgcta gtaacagtgg gtgagccgct cgagggactg
     3721 ggttctaatg aatactggta tgaacgggga gtctctgcag tcgccagaca aatcatactc
     3781 agccccttcc cccgtagagc aacaagtggt tcttttagag ttgactggca gcatttcctg
     3841 tcgggggagg tggggtttga tggagttaga aagctcgcct ctgtgtacat tctctcctgg
     3901 gctgttactt tctgtagacg cacaaaatca gccccaatgt ttttaagggc atcttagcca
     3961 aggaagctgg cttttgtgtc gccacttcca ggcctgcatt aagagagagc ccaggcacca
     4021 gggctaccac tggaacctgc ctcagcgtca actgctgctg gtctgtagcc aggcccagcc
     4081 tttgagacgg gtttactgtc accagtagcc tctcagtgcc agccctgagc tgctcctggc
     4141 tcagctgccc agagcctgca gcctggggag gtactcagcc tctgggagac gagggccgtg
     4201 gactgggtgg ctggtagctc ctgcgttttt gagctgtgtc ctggctggct gctgccaatg
     4261 aggtggacac cagtgtggtt tggggtgcac tggccacttc ttgctgggtt ctgattttct
     4321 tggaagtgca tctgccttcc ttatccaata gttttatccc tgcattgctc ttgtgaagtg
     4381 gctggtttgg ttctgtatgt agcattttgt acctttcctc tggcaaaaca ctgtcagttt
     4441 ataaacattt tttatatttc cctcctttaa aaacagcttg tgtatttctg ctataaaatg
     4501 tgtcagcaaa ggcagagtga cctaataggg catgttctta agcacaggga ctgtatcatg
     4561 caggggccaa taaagctcaa gaaaacgagt atctgcatca ttgtgtgtct catgtgtagt
     4621 gtgtctcaaa ctccactcag atggactgtt acccacacta gtattttctt gagggcacac
     4681 aggaagcaga ggtgctggtc acaggtcaga accaccagtg tccagcaagt agtttggaat
     4741 caatcaatca ttcagaaata aatagctgag gagactgcct tgtccccaag tctccaggaa
     4801 tgagtgagtg gtgacttctg gagggagcct gatgctgctg tgtggcccgg agctgtttgt
     4861 ttgctctgcc cctgcctgga ggtgggggga gcatagggaa cagtgggggg caggccctcc
     4921 ctgtgtcact ctgaacactg gggctttaga aacccttgct ggagtgtccc cttcccccct
     4981 ccccccccac acagaaaatg aagactacag acaaagttgg ttgttttgcc ttaaaacatc
     5041 aatatgctgg attgtggcgt gaggtatttt tattcccttt gttagtactg gaaaccgtct
     5101 ggtacatctt gtaaggcaaa tgattaacac acggcaggct cttcgtccgt ttgcaagttg
     5161 ctgtttgttt ccagctacac cagtcagagc tccacagaga gggtgcgttc ctggttctca
     5221 ggtgggcagg tgctatggtg cggggcgctg gaaagaatgg ggttgaattg gccctcgcct
     5281 ccgcttgttt gagactctcg ttagaaaggg cttaggaaaa ccaagggaat ggcagccacc
     5341 ccatcaccat cgagaacagg cagacgtttc ccgagtaggg gccaaagcca ctggaaaccg
     5401 tgttccctgt gcagtccgac tgacactacc ccatgcctgg ggggaatgag tataaaaagg
     5461 gaaatgtttt tgaagacagg cacgatatat actactagag aatgcgcagt ttcaaaccac
     5521 agttgcagga ggatatagga ataacgacag gtgccgggga ctacgtacca tgatttcata
     5581 gtgctctgca gccagcaggc tcactaaacg ctcatcacgg aacataccac aaatggtgct
     5641 gatcaatgac acacgggttt tcatgcttgt gacacagaca gacagcaaaa caccacggct
     5701 tattatcttc ccattgtgta caccactcac aggacggtga cagtccaggt attgcactgg
     5761 atctcggctt tgcttaacag aaaacaaccc tgctacggtt ggaaagagtt accacttaaa
     5821 acgatttggt caacttgcac caagaagtag gttgggaaca ggtgttttca ggtgagcgtg
     5881 aaaccccgca gtggaacgct gtgtgctgca aattgcttat taatcagaga agtgagtcct
     5941 actaacttcc tattattaca aaagtagaaa gactgaaaaa aaaaatgaaa tctgaaaatg
     6001 atctcatttg cttaaggctg cactgagtgt attgcaaaca aacaaacaaa caccgggaag
     6061 tccacttcgt aaaatgcagc agccaatagg tgaaaataat aaaagaaaga acttttttta
     6121 ggaagaaaaa cacttgccct gtcttgtgtt gaacggatgt gtgtgtactg tttttcaggg
     6181 gcagggtgga gggaagatgt catttggcac tctcgtaatg acaatgtttt aatactggca
     6241 ctagctaaag aacagcgccc ccagcggatg ccaggactgg aggtgggagc gctgttcatt
     6301 cagacgctga gaggtcgggg ttaaaaaacg cggctgtgga gacaggagag ctgctgggaa
     6361 gccatgtttt tgattttcag acaggtgtta attttaccag gcttcattaa tacagaagaa
     6421 aggaaacgtc ttccaggaaa gcagccactg cggaaacgag tgtgtccggc catcaataca
     6481 caagagactc tttgtgactc aacacgtggg gtcgcgaggc agagctggtg gcactgcgga
     6541 tcacttccat ccacctgcaa cacgggaacg ccagttagtc aaccttttgt ttggacggac
     6601 tcctgacact ttggtgggca tcgcttacag aaacacaagg tgaagtcagg ccgcctggtt
     6661 ggtaatctgc cacttcagca gaagagcaag ggaacagcca gcacccaggc gttcctgagg
     6721 tacagtggag acccactggc ctgggcactc actcagtgtg gagctggaag taccttgctg
     6781 cagtgacact gcccgctcca ttggagcagt taggagcgag gtggcctctg gttgctgggg
     6841 agaacgctac ctcctatttt catggacatg gcagagaatg gcgggacgtg tcccatcctg
     6901 cttagtggaa gctctccctt ccttttttct ttttcttttt tttttgagac agggtctggc
     6961 tctgtcactc atactggagt tcagtggtgc agttatcgcc cactgtagct acctcctggg
     7021 ctcaatcgat cctccagcct tggcctccca ggagatggga ctacaggctt gcaccaccac
     7081 gcccaaatct ccctttttat atatttgtgt atttgctctc taccggtgct tctcaaatgg
     7141 gtgcaatgct gtcccatttg gtaaagtctg gagacatttt tagatgtccc aactgagggg
     7201 ttgctgcggg catctagtgg gtggccaggg atgccgctga acatcctgca caatgcagga
     7261 cggactcccc aaattacctg gccttgtccc aggcctttca ggatctggac tgcaaggctg
     7321 gaccctttgt cacaataata gcaaaatccc aactttgatc aacccagctc tcaacccagc
     7381 tctcgagctc agtccaggat cagatttgag aatggctctc ctctaggttc ctttttcagg
     7441 tgatgttgtt taggaggtgc tcagcatatt gctgaggacc cctccccttc tgcctcccgg
     7501 ggcgaggagg gctcagcagg gcaaactgca caagtagtcg gcttggggat gcaatttgca
     7561 gaggcccagg atctctattc aaaatatgaa ttgcaggaac agtcttaggc ctgactgttg
     7621 catttctttc ttggctaaat gaagtctgca gtccctgcca ttacaccatg taggcagtct
     7681 cactggggct tagcttcatc atcccggaca cgttatgtca gagatctcca agcaagatgt
     7741 ctagggcctc agccaacacc gtgcagggta agggcgcagg gaagttggga ccccactttc
     7801 tgccatgaga acagaatcgc ctgctggtgt cgggcagtgg gaccccaggt ctaaacgctt
     7861 agttggcagg gaagggtggg gccatctcac tcgctgactt gggagaaatc ctgatgtttg
     7921 gaagaggggg tcctcttctg cagggccctg tgcgtgggaa gggggtgtct acctttcgaa
     7981 cgtgtactcg ctttccgccc tgaagtagta gacgtgggac ttgaagtgca gcttgaacac
     8041 gtagtctttc tggatgttct cggactcaga ggggatggtg agcgagtagc cgagcagagg
     8101 caggctggca aggggatgat tgtcctggaa aggggaaaca aagcaaagtg gcttttcggg
     8161 gtcagcttct gctgctgggc ctggctgctg ccccgcatca gacagggact tgggagccca
     8221 ggcagctccc tcctcgggcg tgggcctgga agggaccatg gcagccagtg tttgcctgta
     8281 cgtgatggcc cgggtggcaa gtcccgccag gactgagctg tagataaagc caacccccgt
     8341 cccttgtcca ggcagaagac aggtggccct tcctagggca gaagttgtcc ttcagtggat
     8401 gataatgtca gtcttcccta gagttgaggg cctcgggtgg acagggcccc ccgccagcat
     8461 ccctgtcatc cccgtgacac ctggagccca agaggcctga gtcattccag aggagggcgg
     8521 ccccctcacc tcatgctgcc acccccaagg tcccagggcc acctgccctg tgcgagacac
     8581 ttacctggtg tgatttgtag aagaacaggc agaagtttgt gaacaccacc cacagcttct
     8641 gccacccgtt gctgtttttg aatttcctca gcaggtttcc agacaactga ttctgaaagg
     8701 caaggaggcc tgtgagaagc acagcgggca cctgccccag gagggcacag agagcagctc
     8761 tccctgcacc agggccctgg gctggggcat gtccgtgact gaaggatgtg ggccccaccc
     8821 ccgctccccc gtgtgtgggg agacttggca ggtcctggga ccctgatctc atcacttccc
     8881 cttgtcactt gctgtggggc atcttggggt ccctgtgtcc ccccaaaaga cacgttgagg
     8941 tcctgactac cagtacctta gaacacaggc ttatttggaa ataggctcgt tgcagggtaa
     9001 ctagtgaaga cgagatcaca ctggggtagg gtgggcccta aatccaacgg gagtggtgtc
     9061 ctgaggagaa gagccacctt gaggggagag gggtgtgccc tgtgacaccg aggcagaaat
     9121 gggggcgcag gaccccatgc attgccagca ggcggaagct gaaggaggga aagatccatc
     9181 ccaacaagct cagagcagca ctcgttttga ggggccaggc accctaccca ggaagtgggg
     9241 cctggggtgc atgtgagtgg ctcccacatg ccctctagtg gcccaggagg cagttgcagc
     9301 cctgcccacc tccaggctca gggccggccc agcccctgga gcattgttag gatgcgctgc
     9361 agcccagcta gggggcaggg acaggcacct gtgtccatgc tacctccaaa caactctgag
     9421 caggcctgac gcactggtgg ctcatttcgt ccctttgcca aagtgacatc accagcagag
     9481 actcaaagca gttgcaccac cttgtaaagg cacttaatgc cactgaattg ttcccgtaaa
     9541 aatcgttaag ttggccaata ttgtggtata gctattttac cacaataaaa aatacagacc
     9601 tccga
//
LOCUS       NM_001032363            3723 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens mitochondrial contact site and cristae organizing
            system subunit 10 (MICOS10), transcript variant 1, mRNA.
ACCESSION   NM_001032363
VERSION     NM_001032363.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3723)
  AUTHORS   Urbach J, Kondadi AK, David C, Naha R, Deinert K, Reichert AS and
            Anand R.
  TITLE     Conserved GxxxG and WN motifs of MIC13 are essential for bridging
            two MICOS subcomplexes
  JOURNAL   Biochim Biophys Acta Biomembr 1863 (12), 183683 (2021)
   PUBMED   34271005
  REMARK    GeneRIF: Conserved GxxxG and WN motifs of MIC13 are essential for
            bridging two MICOS subcomplexes.
REFERENCE   2  (bases 1 to 3723)
  AUTHORS   Pape JK, Stephan T, Balzarotti F, Buchner R, Lange F, Riedel D,
            Jakobs S and Hell SW.
  TITLE     Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS proteins
  JOURNAL   Proc Natl Acad Sci U S A 117 (34), 20607-20614 (2020)
   PUBMED   32788360
  REMARK    GeneRIF: Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS
            proteins.
REFERENCE   3  (bases 1 to 3723)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3723)
  AUTHORS   Carvalho F, Spier A, Chaze T, Matondo M, Cossart P and Stavru F.
  TITLE     Listeria monocytogenes Exploits Mitochondrial Contact Site and
            Cristae Organizing System Complex Subunit Mic10 To Promote
            Mitochondrial Fragmentation and Cellular Infection
  JOURNAL   mBio 11 (1), e03171-19 (2020)
   PUBMED   32019800
  REMARK    GeneRIF: Listeria monocytogenes Exploits Mitochondrial Contact Site
            and Cristae Organizing System Complex Subunit Mic10 To Promote
            Mitochondrial Fragmentation and Cellular Infection. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 3723)
  AUTHORS   Wagner F, Kunz TC, Chowdhury SR, Thiede B, Fraunholz M, Eger D and
            Kozjak-Pavlovic V.
  TITLE     Armadillo repeat-containing protein 1 is a dual localization protein
            associated with mitochondrial intermembrane space bridging complex
  JOURNAL   PLoS One 14 (10), e0218303 (2019)
   PUBMED   31644573
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3723)
  AUTHORS   von der Malsburg K, Muller JM, Bohnert M, Oeljeklaus S, Kwiatkowska
            P, Becker T, Loniewska-Lwowska A, Wiese S, Rao S, Milenkovic D, Hutu
            DP, Zerbes RM, Schulze-Specking A, Meyer HE, Martinou JC, Rospert S,
            Rehling P, Meisinger C, Veenhuis M, Warscheid B, van der Klei IJ,
            Pfanner N, Chacinska A and van der Laan M.
  TITLE     Dual role of mitofilin in mitochondrial membrane organization and
            protein biogenesis
  JOURNAL   Dev Cell 21 (4), 694-707 (2011)
   PUBMED   21944719
REFERENCE   7  (bases 1 to 3723)
  AUTHORS   Zhao X, Leon IR, Bak S, Mogensen M, Wrzesinski K, Hojlund K and
            Jensen ON.
  TITLE     Phosphoproteome analysis of functional mitochondria isolated from
            resting human muscle reveals extensive phosphorylation of inner
            membrane protein complexes and enzymes
  JOURNAL   Mol Cell Proteomics 10 (1), M110.000299 (2011)
   PUBMED   20833797
REFERENCE   8  (bases 1 to 3723)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer
            JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
REFERENCE   9  (bases 1 to 3723)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   10  (bases 1 to 3723)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DA245944.1, SRR1803617.6377.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000322753.7/ ENSP00000325562.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA523181.1, BC070388.1, AL031727.43 and DB323148.1.
            On Nov 23, 2018 this sequence version replaced NM_001032363.3.
            Transcript Variant: This variant (1) encodes isoform a.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3723
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     gene            1..3723
                     /gene="MICOS10"
                     /gene_synonym="C1orf151; Mic10; MINOS1; MIO10"
                     /note="mitochondrial contact site and cristae organizing
                     system subunit 10"
                     /db_xref="GeneID:440574"
                     /db_xref="HGNC:HGNC:32068"
                     /db_xref="MIM:616574"
     CDS             68..304
                     /gene="MICOS10"
                     /gene_synonym="C1orf151; Mic10; MINOS1; MIO10"
                     /note="isoform a is encoded by transcript variant 1;
                     UPF0327 protein C1orf151; mitochondrial inner membrane
                     organizing system protein 1; RP5-1056L3.2; MICOS complex
                     subunit MIC10; mitochondrial inner membrane organizing
                     system 1"
                     /codon_start=1
                     /product="MICOS complex subunit MIC10 isoform a"
                     /protein_id="NP_001027535.1"
                     /db_xref="CCDS:CCDS30620.1"
                     /db_xref="GeneID:440574"
                     /db_xref="HGNC:HGNC:32068"
                     /db_xref="MIM:616574"
                     /translation="MSESELGRKWDRCLADAVVKIGTGFGLGIVFSLTFFKRRMWPLAF
                     GSGMGLGMAYSNCQHDFQAPYLLHGKYVKEQEQ"
     misc_feature    71..73
                     /gene="MICOS10"
                     /gene_synonym="C1orf151; Mic10; MINOS1; MIO10"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22814378,
                     ECO:0007744|PubMed:25944712; propagated from
                     UniProtKB/Swiss-Prot (Q5TGZ0.1); acetylation site"
     misc_feature    116..175
                     /gene="MICOS10"
                     /gene_synonym="C1orf151; Mic10; MINOS1; MIO10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TGZ0.1);
                     transmembrane region"
     regulatory      510..515
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MICOS10"
                     /gene_synonym="C1orf151; Mic10; MINOS1; MIO10"
                     /note="hexamer: AATAAA"
     regulatory      515..520
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MICOS10"
                     /gene_synonym="C1orf151; Mic10; MINOS1; MIO10"
                     /note="hexamer: ATTAAA"
     polyA_site      526
                     /gene="MICOS10"
                     /gene_synonym="C1orf151; Mic10; MINOS1; MIO10"
                     /note="major polyA site"
     polyA_site      537
                     /gene="MICOS10"
                     /gene_synonym="C1orf151; Mic10; MINOS1; MIO10"
     regulatory      3697..3702
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MICOS10"
                     /gene_synonym="C1orf151; Mic10; MINOS1; MIO10"
                     /note="hexamer: AATAAA"
     polyA_site      3723
                     /gene="MICOS10"
                     /gene_synonym="C1orf151; Mic10; MINOS1; MIO10"
ORIGIN
        1 gcgagacttt caggggtcgg agcgcggggg ccggccgaga ggaaagctgg aggcgcgggt
       61 ggggaacatg tctgagtcgg agctcggcag gaagtgggac cggtgtctgg cggatgcggt
      121 cgtgaagata ggtactggtt ttggattagg aattgttttc tcacttacct tctttaaaag
      181 aagaatgtgg ccattagcct tcggttctgg catgggatta ggaatggctt attccaactg
      241 tcagcatgat ttccaggctc catatcttct acatggaaaa tatgtcaaag agcaggagca
      301 gtgacttcac ctgagaacat cccagcggga ggacaagaga aatcatgttt attcctcagg
      361 aatactgaag tgccctggag taagctgcca ttcttctgta acaatgttat cagtaatgct
      421 ttaaactcca gcacctggtt atgcatttga aaccaagtct gtttcttgtt ttgtattttc
      481 tctctggaag ttgtaaggag gtggtcttaa ataaattaaa caaaaagagg aagtccattg
      541 catggccttt gtttcttcac ctttggtctc tgagcatgag gaggactgtg tgtgaactgc
      601 cagcagctgt agccacctgc tcacagcctc tctgagaacc ccctgaaacc agttgttggg
      661 tatccttccc atttgccccc tcaggcgtag ttttcagaac tgcttccacc tcgtaatcag
      721 aagttgaaga ttgctgctgc gtggcctgat ggagatgact gatgtcttaa ggcgcctttc
      781 cttctgtggc acctcttcgt gtgttctcac ctggggacct ggcagggcac atctccgctg
      841 tgcctactgc aaggcggtcc cactgctgct gtattagcag gggaagaatc ctggctgtgt
      901 ggatggccca ctccattgaa gtcaagtcct gcagcttcat agagcttgag acagtccaag
      961 cttcagctct ggagggcgga ggaaagctca tggcataccc acctggccgg aggagcccga
     1021 ttggggttaa ttttatcttc acgtagcagc tgaagtttga ggacaaaagg gccacttctg
     1081 atgcccctct gagtttgttc ctgtggtttc acttgaacca gggatgctag atgcaaaagt
     1141 catattttag caatttcttc agacgatata cagaacccca gcgctcagcc gttcttattt
     1201 ctttttcctt atcgtagaat taagataggg agagcccgat cccacttgcc cctgtatcct
     1261 gtaaatgttg atttatcatc tactgtaagc gaggcactgt tgtaagcagc agagataaat
     1321 ggataaatag acacaggctt ctgccttcaa ggagcttaga gtctgatgga aagacagacg
     1381 tgcaaacaca actctgaaag aagtgtttta atggagaaga gaggtgtagg caaagtacac
     1441 tgagaacaaa ggagaaggag caactatgtc tccctaggat ggccccacag gcgacggaat
     1501 gcctgcgctg ggacccgaag ttgactggga atcccagaca gaaggagggt agcctctgtg
     1561 tttgctcagg atcatgtaat gcatattata gctgggaaat cgcaagtagt tcagcatagc
     1621 cagggtgtgt aggggcaggg gaaaggcatg gagggggagg ctgggcaata gggtacaact
     1681 catgtctgac tccagttctg gaacattgat tagaccttag ttcttgcaag tgctatagtg
     1741 agtacattca gggtagcaaa taccctccct cagcctcccc actccctttt ccagaaaggt
     1801 ctgctaggct ctgccctgca aactgtccag gctcctctgc cctctgggct tgttttcctc
     1861 tttattgcta cttggctgtt tttcacttgg tcctcttcat tctatgatta aggcaaccca
     1921 tataattgaa agaaaaataa tgtgcagcct gtttcatccc ttccacttgt tttcttacta
     1981 tttatttatt tatttctgag atggaatttt gctcttgttg cccaggctgg agtgcaatgg
     2041 tggcgatctc ggcctgctgc aacctccgct tcctgggttc aagcgcttct cctgcctcag
     2101 cctcccgagt agctgggatt acaggcatgc gccatcacac ctggctaatt ttgtattttt
     2161 agtagagacg gtgtttctcc ttggtcatgc tggtctccaa ctcccgacct caggtgatcc
     2221 tcccgcctcg gcctcccaaa gtgctgggat tacaggcgtg agccaccgca cccagcctcc
     2281 tatttgcttt aaaagtaatt tcctggccgg atgcggtggc tcacacctgt aatcccagca
     2341 ctttgggagg ccaaggcagg tggatcatga ggtcaagaga tcaagaccat cctggccaac
     2401 attgtaaaac cctgtctcta ctaaaaatat aaaaatcagc tgggcatggt ggcgcacacc
     2461 tgtagtccca gctactcagg aggttgaggc aggagaatca tttgaacccg ggaggcagag
     2521 gttgcggtga gctgagatcg cgccactgca ctccagcccg gcgacagagc gagaatctgt
     2581 ctcaaaaaaa aaaaaaaaaa aaaagcattt tccttcccca atttttctgt cattttccca
     2641 tcctcattca ggcagagaga agaataacat gcccccttcc aaaaaagaca aaacacaagg
     2701 tagccacaaa ttccctagac acattagaaa aatagggagt ggagaggggc attggaatga
     2761 aagttctcta tctcattagc tgttaggctt taggcattta tttggatgga tccctttggc
     2821 accttggaag caccactgaa gtgctctgag aaaggggtca gctgtctgag ggaatagttc
     2881 tggatagagg ccacaggaag cactggccag ttgctttagt tctagatagc tttgtattcc
     2941 cgccttgttg cccttagcgg aggctggccc aaagcacact tgatcttgtc cccactccct
     3001 gcccccatct cagatcaacc ttcagaaagt cccggcttgt tggcaaaggc acacattctg
     3061 tgttactctt aagtttcatt agaaattcaa gtcctctggg gccctgttcc cttgtgggct
     3121 tgtgcaactg actttgtttc ttgtctgcct ttctggaacc aaatccaagg aaattcatgg
     3181 gtttggggag acagcgatgg gaacccagca gggcacagga tgctaggata aagctgtggc
     3241 gccccaaaag tggcctgctc tgccaacata cataaataca tacagtctga gcttgacact
     3301 gtataatttg gcccagaaca atatgtattt tgagctcatt taggtgaatg actttggcat
     3361 tccatgtacc cactagggga agctttatca ggctgcattt gccttatgca gaagtatgcc
     3421 tttgttctga gaaatggcct cagaacacac tgttgagctg tctcctttag tgagtgtcat
     3481 cctctcatcc atttcaaaag attgcagatg ccgtcttgaa gtcctgcttg taagaaatgc
     3541 aggggttggg aatggaggag atgacgatgt agttttgctt ttagttttcc caaacctgtt
     3601 tacatttttt aaaaatgtaa ccaacccata attgcatttt acttgtcgtg gttcgatctg
     3661 attgtattgt cgaaggacta tttttgaacc tgtccaaata aactctgcaa agtatttcca
     3721 caa
//
LOCUS       NM_001032373            2563 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 2,
            mRNA.
ACCESSION   NM_001032373
VERSION     NM_001032373.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2563)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr
            M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano
            A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin
            E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D,
            Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M,
            Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J,
            Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou
            Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J,
            Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP,
            Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers
            S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V,
            Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J,
            Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M,
            Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar
            DS, Myers RM, Rubin EM and Lucas SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
REFERENCE   2  (bases 1 to 2563)
  AUTHORS   Shannon M, Hamilton AT, Gordon L, Branscomb E and Stubbs L.
  TITLE     Differential expansion of zinc-finger transcription factor loci in
            homologous human and mouse gene clusters
  JOURNAL   Genome Res 13 (6A), 1097-1110 (2003)
   PUBMED   12743021
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK023091.1, AK314554.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000337433.10/ ENSP00000336719.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CF596130.1, CD700800.1 and BC024197.2.
            On Aug 13, 2020 this sequence version replaced NM_001032373.1.
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, 7, 8, 9, and 10 all encode the same
            isoform (a).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2563
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.31"
     gene            1..2563
                     /gene="ZNF226"
                     /note="zinc finger protein 226"
                     /db_xref="GeneID:7769"
                     /db_xref="HGNC:HGNC:13019"
     misc_feature    105..107
                     /gene="ZNF226"
                     /note="upstream in-frame stop codon"
     CDS             141..2552
                     /gene="ZNF226"
                     /note="isoform a is encoded by transcript variant 2;
                     Kruppel-associated box protein"
                     /codon_start=1
                     /product="zinc finger protein 226 isoform a"
                     /protein_id="NP_001027545.1"
                     /db_xref="CCDS:CCDS46102.1"
                     /db_xref="GeneID:7769"
                     /db_xref="HGNC:HGNC:13019"
                     /translation="MNMFKEAVTFKDVAVAFTEEELGLLGPAQRKLYRDVMVENFRNLL
                     SVGHPPFKQDVSPIERNEQLWIMTTATRRQGNLGEKNQSKLITVQDRESEEELSCWQIW
                     QQIANDLTRCQDSMINNSQCHKQGDFPYQVGTELSIQISEDENYIVNKADGPNNTGNPE
                     FPILRTQDSWRKTFLTESQRLNRDQQISIKNKLCQCKKGVDPIGWISHHDGHRVHKSEK
                     SYRPNDYEKDNMKILTFDHNSMIHTGQKSYQCNECKKPFSDLSSFDLHQQLQSGEKSLT
                     CVERGKGFCYSPVLPVHQKVHVGEKLKCDECGKEFSQGAHLQTHQKVHVIEKPYKCKQC
                     GKGFSRRSALNVHCKVHTAEKPYNCEECGRAFSQASHLQDHQRLHTGEKPFKCDACGKS
                     FSRNSHLQSHQRVHTGEKPYKCEECGKGFICSSNLYIHQRVHTGEKPYKCEECGKGFSR
                     PSSLQAHQGVHTGEKSYICTVCGKGFTLSSNLQAHQRVHTGEKPYKCNECGKSFRRNSH
                     YQVHLVVHTGEKPYKCEICGKGFSQSSYLQIHQKAHSIEKPFKCEECGQGFNQSSRLQI
                     HQLIHTGEKPYKCEECGKGFSRRADLKIHCRIHTGEKPYNCEECGKVFRQASNLLAHQR
                     VHSGEKPFKCEECGKSFGRSAHLQAHQKVHTGDKPYKCDECGKGFKWSLNLDMHQRVHT
                     GEKPYKCGECGKYFSQASSLQLHQSVHTGEKPYKCDVCGKVFSRSSQLQSHQRVHTGEK
                     PYKCEICGKSFSWRSNLTVHHRIHVGDKSYKSNRGGKNIRESTQEKKSIK"
     misc_feature    2481..2549
                     /gene="ZNF226"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYT6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2543..2548
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF226"
                     /note="hexamer: TATAAA"
     polyA_site      2563
                     /gene="ZNF226"
                     /note="major polyA site"
ORIGIN
        1 agacgacgta gcagccatct tttccctggc tttggtgatt cagccctgac ttctcaaaaa
       61 gcactgcaca gaggaggagg cagcagaacc ccatttcagc ttcttaggac tctgcacttc
      121 cccagaagga agaattaaaa atgaatatgt tcaaggaagc agtgaccttc aaggacgtgg
      181 ctgtggcctt cacggaggag gaattggggc tgctgggccc tgcccagagg aagctgtacc
      241 gagatgtgat ggtggagaac tttaggaacc tgctgtcagt ggggcatcca cccttcaaac
      301 aagatgtatc acctatagaa agaaatgagc agctttggat aatgacgaca gcaacccgaa
      361 gacagggaaa tttaggagag aaaaatcaaa gtaagttaat tactgttcaa gacagagaat
      421 cagaagaaga gctttcttgt tggcaaatct ggcaacaaat tgcaaatgac ttaaccaggt
      481 gtcaagactc catgatcaat aattctcagt gtcacaaaca aggtgatttc ccttaccagg
      541 tagggacaga actgtctatt caaatttctg aagatgagaa ctatatagta aataaagcag
      601 atggtcccaa taatactggg aatccagagt ttcctatctt gagaacccag gattcttgga
      661 ggaaaacatt cctgactgag tcacagagat tgaacagaga tcagcaaatt tccataaaaa
      721 ataaattatg tcaatgtaag aagggtgttg atcccatcgg ttggatttca catcatgatg
      781 gtcatagagt acacaaaagt gaaaaatctt atagacccaa tgattatgaa aaagacaaca
      841 tgaagatttt gacatttgat cacaatagca tgattcacac aggacagaaa tcgtaccagt
      901 gtaatgagtg taaaaaaccc ttcagtgatc tctccagctt tgatcttcat cagcagttac
      961 aatcaggaga gaagtctctt acatgtgttg agcgtggaaa aggcttctgt tacagcccag
     1021 ttcttcctgt tcatcagaaa gtacatgtgg gagaaaaact taagtgtgat gagtgtggta
     1081 aggaattcag tcagggcgct catctacaga cccatcagaa agtccacgtg atagagaaac
     1141 catacaaatg taagcaatgt gggaaaggtt tcagtcgtag atcagcactt aatgttcatt
     1201 gcaaggtcca cacggcagag aaaccttata attgtgagga gtgtgggagg gccttcagtc
     1261 aggcctctca tcttcaggac catcagagac tccacactgg ggagaagcca ttcaaatgtg
     1321 atgcatgtgg taagagcttc agtcggaatt cacatcttca atcccatcaa agagttcata
     1381 caggagagaa accatacaaa tgtgaggagt gtggtaaggg cttcatttgt agctcaaatc
     1441 tttacattca tcagagagtc cacacaggag aaaaacccta taaatgtgag gaatgtggta
     1501 aaggctttag tcggccttca agtcttcagg cccatcaggg agttcacact ggagagaagt
     1561 catacatatg tactgtatgt gggaaaggct ttactctgag ttcaaatctt caagcccatc
     1621 agagagtcca cactggagag aagccataca aatgcaatga gtgtgggaag agcttcagga
     1681 ggaattccca ttatcaagtt catctagtgg tccacacagg agagaaaccc tataaatgtg
     1741 agatatgtgg gaagggcttc agtcaaagtt cgtatcttca aatccatcag aaggcccaca
     1801 gtatagagaa accttttaag tgtgaggagt gtgggcaggg tttcaatcag agctcacgac
     1861 ttcagattca ccagctgatc catacgggtg agaaaccata caaatgtgaa gagtgtggca
     1921 agggatttag tcgtagagca gatcttaaaa ttcactgtag gatccacaca ggagagaaac
     1981 catataattg tgaggagtgt gggaaggtct tcaggcaggc ctcaaatctt ttggcccatc
     2041 agagagtcca cagtggagaa aaaccattca aatgtgaaga atgtgggaag agtttcggtc
     2101 ggagtgcaca tcttcaagcc catcaaaaag tccacactgg agataagcca tacaaatgtg
     2161 atgagtgtgg gaagggcttc aagtggagct tgaaccttga catgcatcag agggtgcaca
     2221 caggagaaaa accatataaa tgtggggagt gtggtaagta cttcagtcag gcctcaagtc
     2281 ttcaacttca tcagagtgtc cacacaggag agaaaccata caaatgtgat gtgtgtggta
     2341 aagtcttcag tcggtcttca caactacagt ctcatcagcg agttcacact ggggagaaac
     2401 cttataaatg tgagatatgt ggtaagagct tcagttggcg atcaaatctt acagttcatc
     2461 acagaatcca tgttggtgat aaatcctata aaagtaatag gggtggtaag aacatcagag
     2521 aatccacaca ggaaaaaaaa tctataaaat gattctttgt gaa
//
LOCUS       NM_001032382            1028 bp    mRNA    linear   PRI 18-MAR-2023
DEFINITION  Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript
            variant 3, mRNA.
ACCESSION   NM_001032382
VERSION     NM_001032382.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1028)
  AUTHORS   Cheng S, Liu X, Yuan L, Wang N, Zhang ZC and Han J.
  TITLE     The role of PQBP1 in neural development and function
  JOURNAL   Biochem Soc Trans 51 (1), 363-372 (2023)
   PUBMED   36815699
  REMARK    GeneRIF: The role of PQBP1 in neural development and function.
            Review article
REFERENCE   2  (bases 1 to 1028)
  AUTHORS   Tanaka H and Okazawa H.
  TITLE     PQBP1: The Key to Intellectual Disability, Neurodegenerative
            Diseases, and Innate Immunity
  JOURNAL   Int J Mol Sci 23 (11), 6227 (2022)
   PUBMED   35682906
  REMARK    GeneRIF: PQBP1: The Key to Intellectual Disability,
            Neurodegenerative Diseases, and Innate Immunity. Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1028)
  AUTHORS   Jin M, Shiwaku H, Tanaka H, Obita T, Ohuchi S, Yoshioka Y, Jin X,
            Kondo K, Fujita K, Homma H, Nakajima K, Mizuguchi M and Okazawa H.
  TITLE     Tau activates microglia via the PQBP1-cGAS-STING pathway to promote
            brain inflammation
  JOURNAL   Nat Commun 12 (1), 6565 (2021)
   PUBMED   34782623
  REMARK    GeneRIF: Tau activates microglia via the PQBP1-cGAS-STING pathway to
            promote brain inflammation. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1028)
  AUTHORS   Shen Y, Han J and Zhang ZC.
  TITLE     Novel regulation of the eEF2K/eEF2 pathway: prospects of 'PQBP1
            promotes translational elongation and regulates hippocampal
            mGluR-LTD by suppressing eEF2 phosphorylation'
  JOURNAL   J Mol Cell Biol 13 (5), 392-394 (2021)
   PUBMED   33734395
  REMARK    GeneRIF: Novel regulation of the eEF2K/eEF2 pathway: prospects of
            'PQBP1 promotes translational elongation and regulates hippocampal
            mGluR-LTD by suppressing eEF2 phosphorylation'.
REFERENCE   5  (bases 1 to 1028)
  AUTHORS   Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C,
            O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M,
            Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J,
            Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M,
            Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P,
            Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R,
            Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer
            AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH,
            Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J,
            Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E,
            Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle
            J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow
            M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA and
            Stratton MR.
  TITLE     A systematic, large-scale resequencing screen of X-chromosome coding
            exons in mental retardation
  JOURNAL   Nat Genet 41 (5), 535-543 (2009)
   PUBMED   19377476
REFERENCE   6  (bases 1 to 1028)
  AUTHORS   Iwamoto K, Huang Y and Ueda S.
  TITLE     Genomic organization and alternative transcripts of the human PQBP-1
            gene
  JOURNAL   Gene 259 (1-2), 69-73 (2000)
   PUBMED   11163963
REFERENCE   7  (bases 1 to 1028)
  AUTHORS   Komuro A, Saeki M and Kato S.
  TITLE     Npw38, a novel nuclear protein possessing a WW domain capable of
            activating basal transcription
  JOURNAL   Nucleic Acids Res 27 (9), 1957-1965 (1999)
   PUBMED   10198427
REFERENCE   8  (bases 1 to 1028)
  AUTHORS   Mulley JC, Kerr B, Stevenson R and Lubs H.
  TITLE     Nomenclature guidelines for X-linked mental retardation
  JOURNAL   Am J Med Genet 43 (1-2), 383-391 (1992)
   PUBMED   1605216
  REMARK    Review article
REFERENCE   9  (bases 1 to 1028)
  AUTHORS   Arveiler B, Alembik Y, Hanauer A, Jacobs P, Tranebjaerg L, Mikkelsen
            M, Puissant H, Piet LL and Mandel JL.
  TITLE     Linkage analysis suggests at least two loci for X-linked
            non-specific mental retardation
  JOURNAL   Am J Med Genet 30 (1-2), 473-483 (1988)
   PUBMED   3177465
REFERENCE   10  (bases 1 to 1028)
  AUTHORS   Fox,P., Fox,D. and Gerrard,J.W.
  TITLE     X-linked mental retardation: Renpenning revisited
  JOURNAL   Am J Med Genet 7 (4), 491-495 (1980)
   PUBMED   7211958
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AJ242829.1, SRR11853558.25144.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000447146.7/ ENSP00000391759.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN292761.1, AB016533.1 and
            BC012358.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 27, 2020 this sequence version replaced NM_001032382.1.
            Summary: This gene encodes a nuclear polyglutamine-binding protein
            that is involved with transcription activation. The encoded protein
            contains a WW domain. Mutations in this gene have been found in
            patients with Renpenning syndrome 1 and other syndromes with
            X-linked cognitive disability. Multiple alternatively spliced
            transcript variants that encode different protein isoforms have
            been described for this gene.[provided by RefSeq, Nov 2009].
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, 3, 4, and 5 all encode the same
            protein (isoform 1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1028
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..1028
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /note="polyglutamine binding protein 1"
                     /db_xref="GeneID:10084"
                     /db_xref="HGNC:HGNC:9330"
                     /db_xref="MIM:300463"
     misc_feature    121..123
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /note="upstream in-frame stop codon"
     CDS             172..969
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /note="isoform 1 is encoded by transcript variant 3;
                     polyglutamine tract-binding protein 1; 38 kDa nuclear
                     protein containing a WW domain"
                     /codon_start=1
                     /product="polyglutamine-binding protein 1 isoform 1"
                     /protein_id="NP_001027554.1"
                     /db_xref="CCDS:CCDS14309.1"
                     /db_xref="GeneID:10084"
                     /db_xref="HGNC:HGNC:9330"
                     /db_xref="MIM:300463"
                     /translation="MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRL
                     EGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLD
                     RSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDR
                     GYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLP
                     KRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD"
     misc_feature    451..966
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /note="propagated from UniProtKB/Swiss-Prot (O60828.1);
                     Region: Disordered. /evidence=ECO:0000269|PubMed:19303059"
     misc_feature    451..453
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (O60828.1); phosphorylation site"
     misc_feature    481..585
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /note="propagated from UniProtKB/Swiss-Prot (O60828.1);
                     Region: 5 X 7 AA approximate tandem repeats of
                     D-R-[SG]-H-D-K-S"
     misc_feature    586..603
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /note="propagated from UniProtKB/Swiss-Prot (O60828.1);
                     Region: 3 X 2 AA tandem repeats of [DE]-R"
     misc_feature    619..660
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /note="propagated from UniProtKB/Swiss-Prot (O60828.1);
                     Region: 7 X 2 AA tandem repeats of [DE]-R"
     misc_feature    904..936
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /note="propagated from UniProtKB/Swiss-Prot (O60828.1);
                     Region: Important for interaction with TXNL4A"
     misc_feature    910..912
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (O60828.1); phosphorylation site"
     regulatory      998..1003
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /note="hexamer: AATAAA"
     polyA_site      1028
                     /gene="PQBP1"
                     /gene_synonym="MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;
                     SHS"
                     /note="major polyA site"
ORIGIN
        1 cagttacttt caggctcggg gagtgaaggc ctcgttgaga gaaggtctca ttcggtgttt
       61 tgggaagaga gtcgtgtggg cccaggtatc gtagcggcga cacgagagag acgggcggtg
      121 tgacagcctt ccactacctg cacgagtgta ttggtctgtc tgctatcagc tatgccgctg
      181 cccgttgcgc tgcagacccg cttggccaag agaggcatcc tcaaacatct ggagcctgaa
      241 ccagaggaag agatcattgc cgaggactat gacgatgatc ctgtggacta cgaggccacc
      301 aggttggagg gcctaccacc aagctggtac aaggtgttcg acccttcctg cgggctccct
      361 tactactgga atgcagacac agaccttgta tcctggctct ccccacatga ccccaactcc
      421 gtggttacca aatcggccaa gaagctcaga agcagtaatg cagatgctga agaaaagttg
      481 gaccggagcc atgacaagtc ggacaggggc catgacaagt cggaccgcag ccatgagaaa
      541 ctagacaggg gccacgacaa gtcagaccgg ggccacgaca agtctgacag ggatcgagag
      601 cgtggctatg acaaggtaga cagagagaga gagcgagaca gggaacggga tcgggaccgc
      661 gggtatgaca aggcagaccg ggaagagggc aaagaacggc gccaccatcg ccgggaggag
      721 ctggctccct atcccaagag caagaaggca gtaagccgaa aggatgaaga gttagacccc
      781 atggacccta gctcatactc agacgccccc cggggcacgt ggtcaacagg actccccaag
      841 cggaatgagg ccaagactgg cgctgacacc acagcagctg ggcccctctt ccagcagcgg
      901 ccgtatccat ccccaggggc tgtgctccgg gccaatgcag aggcctcccg aaccaagcag
      961 caggattgaa gcttcggcct ccctggccct gggttaaaat aaaagctttc tggtgatcct
     1021 gcccacca
//
LOCUS       NM_001032386            2319 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens sulfite oxidase (SUOX), transcript variant 2, mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_001032386
VERSION     NM_001032386.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2319)
  AUTHORS   Enemark JH.
  TITLE     Mechanistic complexities of sulfite oxidase: An enzyme with multiple
            domains, subunits, and cofactors
  JOURNAL   J Inorg Biochem 247, 112312 (2023)
   PUBMED   37441922
  REMARK    GeneRIF: Mechanistic complexities of sulfite oxidase: An enzyme with
            multiple domains, subunits, and cofactors.
REFERENCE   2  (bases 1 to 2319)
  AUTHORS   Hong SY and Lin CH.
  TITLE     Epilepsy in sulfite oxidase deficiency and related disorders:
            insights from neuroimaging and genetics
  JOURNAL   Epilepsy Behav 143, 109246 (2023)
   PUBMED   37187015
  REMARK    GeneRIF: Epilepsy in sulfite oxidase deficiency and related
            disorders: insights from neuroimaging and genetics. Review article
REFERENCE   3  (bases 1 to 2319)
  AUTHORS   Naito Y, Akiba J, Kinjo Y, Sadashima E, Ogata T, Yano Y, Tanigawa M,
            Nakayama M, Kawahara A, Okabe Y, Sakai H, Hisaka T, Akagi Y and Yano
            H.
  TITLE     Predictive and Prognostic Value of SUOX Expression in Pancreatic
            Ductal Adenocarcinoma
  JOURNAL   Anticancer Res 42 (8), 4145-4151 (2022)
   PUBMED   35896256
  REMARK    GeneRIF: Predictive and Prognostic Value of SUOX Expression in
            Pancreatic Ductal Adenocarcinoma.
REFERENCE   4  (bases 1 to 2319)
  AUTHORS   Owen MJ, Lenberg J, Feigenbaum A, Gold J, Chau K, Bezares-Orin Z,
            Ding Y, Chowdhury S and Kingsmore SF.
  TITLE     Postmortem whole-genome sequencing on a dried blood spot identifies
            a novel homozygous SUOX variant causing isolated sulfite oxidase
            deficiency
  JOURNAL   Cold Spring Harb Mol Case Stud 7 (3), a006091 (2021)
   PUBMED   34117075
  REMARK    GeneRIF: Postmortem whole-genome sequencing on a dried blood spot
            identifies a novel homozygous SUOX variant causing isolated sulfite
            oxidase deficiency. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2319)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 2319)
  AUTHORS   Edwards MC, Johnson JL, Marriage B, Graf TN, Coyne KE, Rajagopalan
            KV and MacDonald IM.
  TITLE     Isolated sulfite oxidase deficiency: review of two cases in one
            family
  JOURNAL   Ophthalmology 106 (10), 1957-1961 (1999)
   PUBMED   10519592
REFERENCE   7  (bases 1 to 2319)
  AUTHORS   Garrett RM, Johnson JL, Graf TN, Feigenbaum A and Rajagopalan KV.
  TITLE     Human sulfite oxidase R160Q: identification of the mutation in a
            sulfite oxidase-deficient patient and expression and
            characterization of the mutant enzyme
  JOURNAL   Proc Natl Acad Sci U S A 95 (11), 6394-6398 (1998)
   PUBMED   9600976
REFERENCE   8  (bases 1 to 2319)
  AUTHORS   Kisker C, Schindelin H, Pacheco A, Wehbi WA, Garrett RM, Rajagopalan
            KV, Enemark JH and Rees DC.
  TITLE     Molecular basis of sulfite oxidase deficiency from the structure of
            sulfite oxidase
  JOURNAL   Cell 91 (7), 973-983 (1997)
   PUBMED   9428520
REFERENCE   9  (bases 1 to 2319)
  AUTHORS   Garrett RM, Bellissimo DB and Rajagopalan KV.
  TITLE     Molecular cloning of human liver sulfite oxidase
  JOURNAL   Biochim Biophys Acta 1262 (2-3), 147-149 (1995)
   PUBMED   7599189
REFERENCE   10  (bases 1 to 2319)
  AUTHORS   Bindu,P.S., Nagappa,M., Bharath,R.D. and Taly,A.B.
  TITLE     Isolated Sulfite Oxidase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   28933809
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.232437.1,
            SRR1660803.17067.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000266971.8/ ENSP00000266971.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU126450.1, AU121557.1,
            AC034102.32 and BC065193.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001032386.1.
            Summary: Sulfite oxidase is a homodimeric protein localized to the
            intermembrane space of mitochondria. Each subunit contains a heme
            domain and a molybdopterin-binding domain. The enzyme catalyzes the
            oxidation of sulfite to sulfate, the final reaction in the
            oxidative degradation of the sulfur amino acids cysteine and
            methionine. Sulfite oxidase deficiency results in neurological
            abnormalities which are often fatal at an early age. Alternative
            splicing results in multiple transcript variants encoding identical
            proteins. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2319
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..2319
                     /gene="SUOX"
                     /note="sulfite oxidase"
                     /db_xref="GeneID:6821"
                     /db_xref="HGNC:HGNC:11460"
                     /db_xref="MIM:606887"
     misc_feature    34..36
                     /gene="SUOX"
                     /note="upstream in-frame stop codon"
     CDS             184..1821
                     /gene="SUOX"
                     /EC_number="1.8.3.1"
                     /codon_start=1
                     /product="sulfite oxidase, mitochondrial"
                     /protein_id="NP_001027558.1"
                     /db_xref="CCDS:CCDS8901.2"
                     /db_xref="GeneID:6821"
                     /db_xref="HGNC:HGNC:11460"
                     /db_xref="MIM:606887"
                     /translation="MLLLHRAVVLRLQQACRLKSIPSRICIQACSTNDSFQPQRPSLTF
                     SGDNSSTQGWRVMGTLLGLGAVLAYQDHRCRAAQESTHIYTKEEVSSHTSPETGIWVTL
                     GSEVFDVTEFVDLHPGGPSKLMLAAGGPLEPFWALYAVHNQSHVRELLAQYKIGELNPE
                     DKVAPTVETSDPYADDPVRHPALKVNSQRPFNAEPPPELLTENYITPNPIFFTRNHLPV
                     PNLDPDTYRLHVVGAPGGQSLSLSLDDLHNFPRYEITVTLQCAGNRRSEMTQVKEVKGL
                     EWRTGAISTARWAGARLCDVLAQAGHQLCETEAHVCFEGLDSDPTGTAYGASIPLARAM
                     DPEAEVLLAYEMNGQPLPRDHGFPVRVVVPGVVGARHVKWLGRVSVQPEESYSHWQRRD
                     YKGFSPSVDWETVDFDSAPSIQELPVQSAITEPRDGETVESGEVTIKGYAWSGGGRAVI
                     RVDVSLDGGLTWQVAKLDGEEQRPRKAWAWRLWQLKAPVPAGQKELNIVCKAVDDGYNV
                     QPDTVAPIWNLRGVLSNAWHRVHVYVSP"
     misc_feature    550..552
                     /gene="SUOX"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P51687.2); phosphorylation site"
     misc_feature    676..705
                     /gene="SUOX"
                     /note="propagated from UniProtKB/Swiss-Prot (P51687.2);
                     Region: Hinge. /evidence=ECO:0000250|UniProtKB:P07850"
     misc_feature    706..1386
                     /gene="SUOX"
                     /note="propagated from UniProtKB/Swiss-Prot (P51687.2);
                     Region: Moco domain.
                     /evidence=ECO:0000250|UniProtKB:P07850"
     misc_feature    1387..1797
                     /gene="SUOX"
                     /note="propagated from UniProtKB/Swiss-Prot (P51687.2);
                     Region: Homodimerization.
                     /evidence=ECO:0000250|UniProtKB:P07850"
     regulatory      2294..2299
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SUOX"
                     /note="hexamer: AATAAA"
     polyA_site      2319
                     /gene="SUOX"
                     /note="major polyA site"
ORIGIN
        1 gccccttctc gagaactcgc agagctgggc tggtaaaatt gcagtgctga agacactgga
       61 cccgcaaaag gctgtccctc ccaaacctgg gattctgggc tcactgagtt cacctgcgag
      121 tcagccctac ctgcactgct ctggtctagt acaaacaggc tgctggcatt gaggtctgct
      181 acaatgctgc tgctgcacag agctgtggtc ctcaggctcc aacaggcctg cagactcaag
      241 tcaatcccct caaggatctg cattcaggcc tgctccacaa atgattcatt tcagccccag
      301 cgccccagcc tcaccttctc tggtgataac tccagcaccc agggatggag agtcatgggg
      361 accctattag gtctcggtgc agtgttggcc tatcaggacc atcggtgtag ggctgctcag
      421 gagtcaacac acatatacac taaggaggaa gtgagttccc acaccagccc tgagactggg
      481 atctgggtga ctctgggctc tgaggtcttt gatgtcacag aatttgtgga cctacatcca
      541 ggggggcctt caaagctgat gctagcagct gggggtcccc tagagccctt ctgggccctc
      601 tatgctgttc acaaccagtc ccatgtgcgt gagttactgg ctcagtacaa gattggggag
      661 ctgaatcctg aagacaaggt agcccccacc gtggagacct ctgaccctta tgctgatgat
      721 cctgtacgtc acccagccct gaaggtcaac agccagcggc cctttaatgc agagcctccc
      781 cctgagctgc tgacagaaaa ctacatcaca cccaacccta tcttcttcac ccggaaccat
      841 ctgcctgtac ctaacctgga tccagacacc tatcgcttac acgtagtagg agcacctggg
      901 ggtcagtcac tgtctctttc cctggatgac ttgcacaact ttcccaggta cgagatcaca
      961 gtcactctgc agtgtgccgg caaccgacgc tctgagatga ctcaggtcaa agaagtaaaa
     1021 ggtctggagt ggagaacagg agccatcagc actgcacgct gggctggggc acggctctgt
     1081 gatgtgttag cccaggctgg ccaccaactc tgtgaaactg aggcccacgt ctgctttgag
     1141 ggactggact cagaccctac tgggactgcc tatggagcat ccatccctct ggctcgggcc
     1201 atggaccctg aagctgaggt cctgctggca tatgagatga atgggcagcc tctgccacgt
     1261 gaccacggct tccctgtgcg tgtggtggtt cctggagtgg tgggtgcccg ccatgtcaaa
     1321 tggctgggca gagtgagtgt gcagccagag gaaagttaca gccactggca acggcgggat
     1381 tacaaaggct tctctccatc tgtggactgg gagactgtag attttgactc tgctccatcc
     1441 attcaggaac ttcctgtcca gtcggccatc acagagcccc gggatggaga gactgtagaa
     1501 tcaggggagg tgaccatcaa gggctatgca tggagtggtg gtggcagggc tgtgatccgg
     1561 gtggatgtgt ctctggatgg gggcctaacc tggcaggtgg ctaagctgga tggagaggaa
     1621 cagcgcccca ggaaggcctg ggcatggcgt ctgtggcagt tgaaagcccc tgtgccagct
     1681 ggacaaaagg aactgaacat tgtttgtaag gctgtggatg atggttacaa tgtgcagcca
     1741 gacaccgtgg ccccaatctg gaacctgcga ggtgttctca gcaatgcctg gcatcgtgtc
     1801 catgtctatg tctccccatg agcatggaaa ggagccacct ccaccccttt ccccacccat
     1861 tagcctcact gcttcagaaa aatctttccc acctttcaac ttcttggatc acaactctgg
     1921 ccttcctaag ccatacccaa gtacacatat agcacatttc acccaaggac cttccctctt
     1981 tggacactat gttacatacc cctcttggcc tttgaacctg tgccaggaag tgtgagctgt
     2041 tacagcaagg ggctagaagt gaaaaaagta attctggaga caagcactat tttctcttcc
     2101 taccccacct ccatttctaa tgcctactgc catcaaggcc ttgttttgct tttctttttg
     2161 gattgttcag agaaatgtgt gtggcatgtg taagaaaagt gtatatacta tcttatacta
     2221 cctctccagg ttgccagaga gttgcgagga gagcaagggg cacaaccgtc tccctttata
     2281 gttctacttt tctaataaat agtctgttta agatcataa
//
LOCUS       NM_001032392            3249 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens plasminogen like B1 (PLGLB1), mRNA.
ACCESSION   NM_001032392
VERSION     NM_001032392.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3249)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction Assessment
            with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   2  (bases 1 to 3249)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 3249)
  AUTHORS   Weissbach L and Treadwell BV.
  TITLE     A plasminogen-related gene is expressed in cancer cells
  JOURNAL   Biochem Biophys Res Commun 186 (2), 1108-1114 (1992)
   PUBMED   1379800
REFERENCE   4  (bases 1 to 3249)
  AUTHORS   Ichinose A.
  TITLE     Multiple members of the plasminogen-apolipoprotein(a) gene family
            associated with thrombosis
  JOURNAL   Biochemistry 31 (12), 3113-3118 (1992)
   PUBMED   1554698
REFERENCE   5  (bases 1 to 3249)
  AUTHORS   Ichinose A, Espling ES, Takamatsu J, Saito H, Shinmyozu K, Maruyama
            I, Petersen TE and Davie EW.
  TITLE     Two types of abnormal genes for plasminogen in families with a
            predisposition for thrombosis
  JOURNAL   Proc Natl Acad Sci U S A 88 (1), 115-119 (1991)
   PUBMED   1986355
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1991 Apr 1;88(7):2967]
REFERENCE   6  (bases 1 to 3249)
  AUTHORS   Frank SL, Klisak I, Sparkes RS and Lusis AJ.
  TITLE     A gene homologous to plasminogen located on human chromosome
            2q11-p11
  JOURNAL   Genomics 4 (3), 449-451 (1989)
   PUBMED   2714803
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC070296.1, SRR5189664.93109.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2155590,
            SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000355705.4/ ENSP00000347933.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC125232.4 and AC111200.7.
            On Feb 11, 2020 this sequence version replaced NM_001032392.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3249
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..3249
                     /gene="PLGLB1"
                     /gene_synonym="PLGL; PLGP1; PRGB; PRP-B"
                     /note="plasminogen like B1"
                     /db_xref="GeneID:5343"
                     /db_xref="HGNC:HGNC:9072"
                     /db_xref="MIM:173340"
     misc_feature    2..4
                     /gene="PLGLB1"
                     /gene_synonym="PLGL; PLGP1; PRGB; PRP-B"
                     /note="upstream in-frame stop codon"
     CDS             62..352
                     /gene="PLGLB1"
                     /gene_synonym="PLGL; PLGP1; PRGB; PRP-B"
                     /note="plasminogen-related protein B; type B plasminogen
                     related; plasminogen-like protein B"
                     /codon_start=1
                     /product="plasminogen-like protein B precursor"
                     /protein_id="NP_001027564.1"
                     /db_xref="CCDS:CCDS33238.1"
                     /db_xref="GeneID:5343"
                     /db_xref="HGNC:HGNC:9072"
                     /db_xref="MIM:173340"
                     /translation="MEHKEVVLLLLLFLKSGQGEPLDDYVNTQGPSLFSVTKKQLGAGS
                     REECAAKCEEDKEFTCRAFQYHSKEQQCVIMAENRKSSIIIRMRDAVLFEK"
     sig_peptide     62..118
                     /gene="PLGLB1"
                     /gene_synonym="PLGL; PLGP1; PRGB; PRP-B"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      642..647
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLGLB1"
                     /gene_synonym="PLGL; PLGP1; PRGB; PRP-B"
                     /note="hexamer: AATATA"
     polyA_site      664
                     /gene="PLGLB1"
                     /gene_synonym="PLGL; PLGP1; PRGB; PRP-B"
                     /note="major polyA site"
     regulatory      1145..1150
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLGLB1"
                     /gene_synonym="PLGL; PLGP1; PRGB; PRP-B"
                     /note="hexamer: AATGAA"
     polyA_site      1167
                     /gene="PLGLB1"
                     /gene_synonym="PLGL; PLGP1; PRGB; PRP-B"
                     /note="major polyA site"
     regulatory      3228..3233
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLGLB1"
                     /gene_synonym="PLGL; PLGP1; PRGB; PRP-B"
                     /note="hexamer: AATAAA"
     polyA_site      3249
                     /gene="PLGLB1"
                     /gene_synonym="PLGL; PLGP1; PRGB; PRP-B"
                     /note="major polyA site"
ORIGIN
        1 gtaagtcaac aacatcctgg gattgggaca cactttctgg gcactgctgg ccagtcccaa
       61 aatggaacat aaggaagtgg ttcttctact tcttttattt ctgaaatcag gtcaaggaga
      121 gcccctggat gactatgtga atacccaggg gccttcactg ttcagtgtca ctaagaagca
      181 gctgggggca ggaagcagag aagaatgtgc agcaaaatgt gaagaggaca aagaattcac
      241 ctgcagggca ttccaatatc acagtaaaga gcaacaatgt gtgataatgg ctgaaaacag
      301 gaagtcctcc ataatcatta ggatgagaga tgcagtttta tttgaaaagt aaatgtatct
      361 ttcagagtgc aagactggga atggaaagaa ctacagaggg acgatgtcca aaacaaaaaa
      421 tggcatcacc tgtcaaaaat ggagttccac ttctccccgc aaacctaggt cagacttttc
      481 ctttcatctt tgtgttcatc tactgtaaag tgtccgtctg tgtctgtgag ggattggttc
      541 caggacccct gtggctacca aaatccatgc ttctcaagtc ccttatgtaa aatggtgcag
      601 tatttgcata taacctacat accttctctt gtgcaatccc taatataatg taaatgctat
      661 gtaatcgttg ttatactgta ttgtttttat ttgtattatg ttttattgtc atattgttat
      721 tttctctcat ctttttcaag tcttttccat ccacagttgg ttgaatttgt ggatgtggaa
      781 cccatggata cagagggcca actgtattta ggataatttc atcactttta attcaaacca
      841 gaatatgtga ataagcagac agaaagaatc tttttgatgt cgatgttcaa ctatttttgg
      901 caccatagta gaacatggtt gctttctatt ttttcttggg tatggaggtt tcttgaagac
      961 ctagaacata gaagaatgcc tagttaaaaa aaaaaatcaa tgaaactacg agttttaggc
     1021 caaatctgag aaaagaccaa agatgactat gtttgggact gaagtaaaca tatcaagtta
     1081 gaactctcat cacatgtttg actcaaattg tggagcaaaa tagtaaataa aatataaaaa
     1141 tgaaaatgaa gatacgtgaa attcaaatgt cacaacttgc ctattattta ttttagtgca
     1201 tttttttgtg cttttcccag tttggtgtta ggtggcctta agttctcagt aatgacactt
     1261 atcaaatagg aacttagtgt tactcacctt tatccattcc cccaacactc aacaaattgc
     1321 ctttgctata tccctatgag atgagcagat caaatattcc ccgtgagtta atgaaaactg
     1381 attcaaccaa atggcgaagt cagagactat cgggggccat ggagacactc tgggccattt
     1441 ttatgaggta gtctaggctc atcttcatga gggaactgag gtcttggggg gtgggggtta
     1501 cccaaatagg ttcacagaag aaccagaaat aaaacctgcc tttctagact gtaagtcttg
     1561 tgattgtcat ctaaatggtt gtctctatac agcaactcat ctctagaact gaaaataagt
     1621 ttaaatccct cctccatccc caataattca agctgcattt cagagaaaac caggactttg
     1681 gaatcagaca gatcaacttt gacttcttga tctgcttctt catagctatt tatgcttagg
     1741 caagttttgt tttgttttgt tttacgttgc cactcagtct tctcatctgt aaaacaggga
     1801 taataacacc ttcctcaaat ggtttttttt attaggacta aaagagagaa tgtgtggaaa
     1861 gatgttagtg gaattcctgg cacatagttc acatggacaa aatggtgtta actacgaaaa
     1921 tttttacaga gaaaagggca actgacaaaa gcaggtgttt ggaatgaatt aagaccatgg
     1981 caggcttttg aggcctttat atttctcctg actgtgcaat aaaaatattt tggctctctg
     2041 tctaagactt ggctgtcaca gtagcaatgg taatattagc tactgtgcca gaagcagcct
     2101 atcaatagag aaattgaaaa tctgaccaca caaatgctgc agcacccagc tgaaatgcat
     2161 ttggatgaca atctcagatg ggaatcgaga gcatctcctt ctgccttgct aatagcaagc
     2221 tgatttttag aatatagtct aagtgcttct cttccatcct ccccagattc tcacctgcta
     2281 cacacccctc agagggactg gaggaatcca gacaacgatg cgcaggggcc ctggtgctat
     2341 actactgatc cagaacagag agatgactac tgcgacattc ctgagtgtga agggcaggag
     2401 tggctctaga aaatgttttc atttctgccc ttcacctgta aaataatttg ttgtaaagcc
     2461 ccttcccaca gggatattat taataattgc gtaacgtgtt cacctctcgg aaaggagcaa
     2521 aactttgctc agatcccaga attaacctga tttttttttt ttttctgaga cagaattttg
     2581 ctctcattgc ccaggctaga gtgcaatggt gcgatctcag ctcaccacaa cctccgcctc
     2641 cgggttcaag cgattctcct acctcagcct cccaagtagc tggaattaca tgcatgtgcc
     2701 accatgcctg gctaatttta catttttagt agagacaggg tttctccatg ttggtcaggc
     2761 tggtcttgaa ctctcgacct caggtgagcc gcccgcctca gcctcccaaa gtgctgggat
     2821 tacaggcatg agccaccatg cccagcagac ctgaattatt attattaaaa tgttacatca
     2881 acatgtacaa atataaaact acatctaaac tctaagtaca gacttcttat gcttaaaact
     2941 cttacacagt gttaacccca agacagattt gcaattaagt agttaaaata agacaacaaa
     3001 gtcaataaaa atcaaataaa caatatacat ttaatgtggt agactttgct gttttgctga
     3061 agctaagcaa ggaaccagtt tttaaatcag caatccgtta ttttaatgga ctgagcaatt
     3121 taatagtgca cctcaaaggt caatgataaa aactaaaaaa aaaaaatacc tactgaaaaa
     3181 actgtcatcg tttcacattt ctggctacgt tagtgcaaaa gggaataaat aaaggtgaga
     3241 tttgtgtga
//
LOCUS       NM_001032396            2362 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens praja ring finger ubiquitin ligase 1 (PJA1), transcript
            variant 2, mRNA.
ACCESSION   NM_001032396
VERSION     NM_001032396.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2362)
  AUTHORS   Ghosh B, Karmakar S, Prasad M and Mandal AK.
  TITLE     Praja1 ubiquitin ligase facilitates degradation of polyglutamine
            proteins and suppresses polyglutamine-mediated toxicity
  JOURNAL   Mol Biol Cell 32 (17), 1579-1593 (2021)
   PUBMED   34161122
  REMARK    GeneRIF: Praja1 ubiquitin ligase facilitates degradation of
            polyglutamine proteins and suppresses polyglutamine-mediated
            toxicity.
REFERENCE   2  (bases 1 to 2362)
  AUTHORS   Luo Z, Ye X, Cheng Y, Li F, Shou F and Wang G.
  TITLE     E3 ubiquitin ligase PJA1 regulates lung adenocarcinoma apoptosis and
            invasion through promoting FOXR2 degradation
  JOURNAL   Biochem Biophys Res Commun 556, 106-113 (2021)
   PUBMED   33839405
  REMARK    GeneRIF: E3 ubiquitin ligase PJA1 regulates lung adenocarcinoma
            apoptosis and invasion through promoting FOXR2 degradation.
REFERENCE   3  (bases 1 to 2362)
  AUTHORS   Watabe K, Kato Y, Sakuma M, Murata M, Niida-Kawaguchi M, Takemura T,
            Hanagata N, Tada M, Kakita A and Shibata N.
  TITLE     Praja1 RING-finger E3 ubiquitin ligase suppresses neuronal
            cytoplasmic TDP-43 aggregate formation
  JOURNAL   Neuropathology 40 (6), 570-586 (2020)
   PUBMED   32686212
  REMARK    GeneRIF: Praja1 RING-finger E3 ubiquitin ligase suppresses neuronal
            cytoplasmic TDP-43 aggregate formation.
REFERENCE   4  (bases 1 to 2362)
  AUTHORS   Suzuki T, Suzuki T, Raveau M, Miyake N, Sudo G, Tsurusaki Y,
            Watanabe T, Sugaya Y, Tatsukawa T, Mazaki E, Shimohata A, Kushima I,
            Aleksic B, Shiino T, Toyota T, Iwayama Y, Nakaoka K, Ohmori I,
            Sasaki A, Watanabe K, Hirose S, Kaneko S, Inoue Y, Yoshikawa T,
            Ozaki N, Kano M, Shimoji T, Matsumoto N and Yamakawa K.
  TITLE     A recurrent PJA1 variant in trigonocephaly and neurodevelopmental
            disorders
  JOURNAL   Ann Clin Transl Neurol 7 (7), 1117-1131 (2020)
   PUBMED   32530565
  REMARK    GeneRIF: A recurrent PJA1 variant in trigonocephaly and
            neurodevelopmental disorders.
REFERENCE   5  (bases 1 to 2362)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 2362)
  AUTHORS   Saha T, Vardhini D, Tang Y, Katuri V, Jogunoori W, Volpe EA, Haines
            D, Sidawy A, Zhou X, Gallicano I, Schlegel R, Mishra B and Mishra L.
  TITLE     RING finger-dependent ubiquitination by PRAJA is dependent on
            TGF-beta and potentially defines the functional status of the tumor
            suppressor ELF
  JOURNAL   Oncogene 25 (5), 693-705 (2006)
   PUBMED   16247473
REFERENCE   7  (bases 1 to 2362)
  AUTHORS   Mishra L, Katuri V and Evans S.
  TITLE     The role of PRAJA and ELF in TGF-beta signaling and gastric cancer
  JOURNAL   Cancer Biol Ther 4 (7), 694-699 (2005)
   PUBMED   16096365
  REMARK    Review article
REFERENCE   8  (bases 1 to 2362)
  AUTHORS   Sasaki A, Masuda Y, Iwai K, Ikeda K and Watanabe K.
  TITLE     A RING finger protein Praja1 regulates Dlx5-dependent transcription
            through its ubiquitin ligase activity for the Dlx/Msx-interacting
            MAGE/Necdin family protein, Dlxin-1
  JOURNAL   J Biol Chem 277 (25), 22541-22546 (2002)
   PUBMED   11959851
  REMARK    GeneRIF: A RING finger protein Praja1 regulates Dlx5-dependent
            transcription through its ubiquitin ligase activity for the
            Dlx/Msx-interacting MAGE/Necdin family protein, Dlxin-1.
REFERENCE   9  (bases 1 to 2362)
  AUTHORS   Yu P, Chen Y, Tagle DA and Cai T.
  TITLE     PJA1, encoding a RING-H2 finger ubiquitin ligase, is a novel human X
            chromosome gene abundantly expressed in brain
  JOURNAL   Genomics 79 (6), 869-874 (2002)
   PUBMED   12036302
  REMARK    GeneRIF: Involved in protein ubiquitination in the brain. Candidate
            gene for X-linked mental retardation.
REFERENCE   10  (bases 1 to 2362)
  AUTHORS   Mishra L, Tully RE, Monga SP, Yu P, Cai T, Makalowski W, Mezey E,
            Pavan WJ and Mishra B.
  TITLE     Praja1, a novel gene encoding a RING-H2 motif in mouse development
  JOURNAL   Oncogene 15 (19), 2361-2368 (1997)
   PUBMED   9393880
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK226171.1, SRR14038192.2972875.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142853,
            SAMEA2147920 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374571.5/ ENSP00000363699.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC349747.1, AK226171.1 and
            BM127146.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 20, 2020 this sequence version replaced NM_001032396.3.
            Summary: This gene encodes an enzyme that has E2-dependent E3
            ubiquitin-protein ligase activity. This enzyme belongs to a class
            of ubiquitin ligases that include a RING finger motif, and it can
            interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene
            is located in an area of chromosome X where several X-linked
            cognitive disability disorders have been associated, and it has
            also been found as part of a contiguous gene deletion associated
            with craniofrontonasal syndrome, though a direct link to any
            disorder has yet to be demonstrated. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, May 2010].
            Transcript Variant: This variant (2, also known as PJA1beta) lacks
            a portion of the 5' UTR and 5' coding region, and uses a downstream
            start codon, compared to variant 1. The encoded isoform (b) is
            shorter at the N-terminus, compared to isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2362
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..2362
                     /gene="PJA1"
                     /gene_synonym="PRAJA1; RNF70"
                     /note="praja ring finger ubiquitin ligase 1"
                     /db_xref="GeneID:64219"
                     /db_xref="HGNC:HGNC:16648"
                     /db_xref="MIM:300420"
     CDS             150..1916
                     /gene="PJA1"
                     /gene_synonym="PRAJA1; RNF70"
                     /EC_number="2.3.2.27"
                     /note="isoform b is encoded by transcript variant 2; praja
                     1; E3 ubiquitin-protein ligase Praja-1; RING finger protein
                     70; praja ring finger 1, E3 ubiquitin protein ligase;
                     RING-type E3 ubiquitin transferase Praja-1"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase Praja-1 isoform b"
                     /protein_id="NP_001027568.1"
                     /db_xref="CCDS:CCDS35316.1"
                     /db_xref="GeneID:64219"
                     /db_xref="HGNC:HGNC:16648"
                     /db_xref="MIM:300420"
                     /translation="MHRSAPSQTTKRSRSPFSTTRRSWDDSESSGTNLNIDNEDYSRYP
                     PREYRASGSRRGMAYGHIDSYGADDSEEEGAGPVERPPVRGKTGKFKDDKLYDPEKGAR
                     SLAGPPPHFSSFSRDVREERDKLDPVPAARCSASRADFLPQSSVASQSSSEGKLATKGD
                     SSERERREQNLPARPSRAPVSICGGGENTSKSAEEPVVRPKIRNLASPNCVKPKIFFDT
                     DDDDDMPHSTSRWRDTANDNEGHSDGLARRGRGESSSGYPEPKYPEDKREARSDQVKPE
                     KVPRRRRTMADPDFWTHSDDYYKYCDEDSDSDKEWIAALRRKYRSREQTLSSSGESWET
                     LPGKEEREPPQAKVSASTGTSPGPGASASAGAGAGASAGSNGSNYLEEVREPSLQEEQA
                     SLEEGEIPWLQYHENDSSSEGDNDSGHELMQPGVFMLDGNNNLEDDSSVSEDLEVDWSL
                     FDGFADGLGVAEAISYVDPQFLTYMALEERLAQAMETALAHLESLAVDVEVANPPASKE
                     SIDALPEILVTEDHGAVGQEMCCPICCSEYVKGEVATELPCHHYFHKPCVSIWLQKSGT
                     CPVCRCMFPPPL"
     regulatory      2339..2344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PJA1"
                     /gene_synonym="PRAJA1; RNF70"
                     /note="hexamer: ATTAAA"
     polyA_site      2362
                     /gene="PJA1"
                     /gene_synonym="PRAJA1; RNF70"
                     /note="major polyA site"
ORIGIN
        1 gggagcagcg gctctggcgg tcgtggcggt cggagatccg agagctctgc ttctctgaaa
       61 agcgtgtggc tttctggact tgtttcaggc cacccacgag ccagcgggaa aggattgcca
      121 gccagagaaa gacgaactcc gaagtcccaa tgcacagatc agcccccagt caaaccacca
      181 agaggagccg atcgccattt tccactactc gtcgtagttg ggacgacagc gagagttcgg
      241 gaaccaacct gaatattgat aatgaggact attccaggta tccgccaaga gagtacagag
      301 cttcgggtag cagaagagga atggcctatg gacatattga ctcttatggg gcagatgata
      361 gtgaggagga gggggctggg cctgttgagc gaccgccagt gagagggaaa actggcaagt
      421 ttaaagatga taagctgtat gacccagaga aaggggcaag gtctttggct gggccacctc
      481 cacatttctc tagttttagc cgtgatgtga gagaggagcg agacaagtta gacccagtcc
      541 ctgcagcaag atgctcagct agcagagctg acttcctgcc acaaagtagt gtggcctcac
      601 agtcgtcttc tgaaggcaag ctggctacaa aaggtgacag ctcggagagg gagagaaggg
      661 agcaaaattt acctgcacgt cccagcaggg ctcctgtgag tatttgtggt ggtggggaaa
      721 acacctcaaa gagtgcagag gaacctgtgg tcaggcccaa aatcagaaac ctggcaagtc
      781 caaactgcgt gaaaccaaaa attttttttg atactgatga tgatgacgat atgccacaca
      841 gtacttccag gtggagggat accgccaatg acaatgaggg ccactcggat ggcctggcaa
      901 gaagagggag aggcgagagt tcaagtggct atcccgagcc aaagtaccct gaagacaaac
      961 gggaagcgag gagtgaccaa gtgaaaccag aaaaggtgcc gagacgacga cgcaccatgg
     1021 ccgaccctga cttctggacg cacagtgatg attactacaa atactgcgac gaagactctg
     1081 acagtgacaa agagtggatt gctgctctgc gtcggaaata tcgaagccga gagcaaaccc
     1141 tgtcctccag tggcgaaagc tgggagactc tgccggggaa agaagagcgg gaacctccac
     1201 aggctaaggt gagtgccagc actggcacca gccctggccc cggtgctagt gccagtgccg
     1261 gggctggcgc cggggccagt gctggcagca atggcagcaa ttaccttgaa gaagttcgag
     1321 aaccatctct tcaggaagag caggcatccc tggaagaagg agaaattcct tggctccagt
     1381 accatgagaa tgacagtagc agtgaggggg ataatgattc tggtcacgag ttgatgcaac
     1441 ctggggtatt catgctggat ggaaacaaca accttgaaga tgactccagt gtgagcgaag
     1501 acctagaagt ggattggagc ctctttgatg gatttgcaga tgggttagga gtggctgaag
     1561 ccatttccta tgtggaccct cagttcctca cctacatggc acttgaagaa cgcctggccc
     1621 aggcaatgga aactgccctt gcgcacttgg agtctctcgc agtggatgta gaggtggcca
     1681 atccaccagc aagcaaggag agcattgacg ctcttcccga gatcctggtc actgaagatc
     1741 atggcgcagt tggtcaggag atgtgctgcc ccatctgctg tagcgaatat gtgaaggggg
     1801 aggtggcaac tgagctgccg tgccaccact atttccacaa gccgtgtgtg tccatctggc
     1861 ttcagaagtc aggcacctgc cccgtgtgcc gctgcatgtt ccctccccca ctctaaagac
     1921 caaggccgtt tactcctggt ctgattattt tccccatctg aaatccacaa tactgcagga
     1981 gccctcttga aattaacaat ggaaataaaa ccaatcagtc agttagccta aacctattga
     2041 ttcctcgtga ttatttccaa tgtgaaaaca gttgtgtatg attgcattaa aaatcatatc
     2101 atcttttaga ggttagaaaa gggaaaacta aactttctaa atgctacttg agattgcagt
     2161 aagaagatac gttttctaac ctgaaagtta aatcgcattt gttttcttca gtagaatggg
     2221 aatgtgttgc tgttacttgt aatgtcaagt ttatctgtta aatatgtcca aaaggcaaaa
     2281 tcatttttgt tgcatgttat gggtcgatgt tcctgtaatt gcagtgccgt aaaagcttat
     2341 taaagttgtt cttttggttt ta
//
LOCUS       NM_001032999            7344 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens CBFA2/RUNX1 partner transcriptional co-repressor 2
            (CBFA2T2), transcript variant 3, mRNA.
ACCESSION   NM_001032999
VERSION     NM_001032999.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7344)
  AUTHORS   Luo J, Dou L, Yang Z, Zhou Z and Huang H.
  TITLE     CBFA2T2 promotes adipogenic differentiation of mesenchymal stem
            cells by regulating CEBPA
  JOURNAL   Biochem Biophys Res Commun 529 (2), 133-139 (2020)
   PUBMED   32703401
  REMARK    GeneRIF: CBFA2T2 promotes adipogenic differentiation of mesenchymal
            stem cells by regulating CEBPA.
REFERENCE   2  (bases 1 to 7344)
  AUTHORS   Parang B, Bradley AM, Mittal MK, Short SP, Thompson JJ, Barrett CW,
            Naik RD, Bilotta AJ, Washington MK, Revetta FL, Smith JJ, Chen X,
            Wilson KT, Hiebert SW and Williams CS.
  TITLE     Myeloid translocation genes differentially regulate colorectal
            cancer programs
  JOURNAL   Oncogene 35 (49), 6341-6349 (2016)
   PUBMED   27270437
  REMARK    GeneRIF: in human colorectal cancer (CRC) samples MTGR1 was
            downregulated at both the transcript and protein level. Overall data
            indicates that MTGR1 has a context-dependent effect on intestinal
            tumorigenesis.
REFERENCE   3  (bases 1 to 7344)
  AUTHORS   Tu S, Narendra V, Yamaji M, Vidal SE, Rojas LA, Wang X, Kim SY,
            Garcia BA, Tuschl T, Stadtfeld M and Reinberg D.
  TITLE     Co-repressor CBFA2T2 regulates pluripotency and germline development
  JOURNAL   Nature 534 (7607), 387-390 (2016)
   PUBMED   27281218
  REMARK    GeneRIF: CBFA2T2 forms a biochemical complex with PRDM14, a
            germline-specific transcription factor; mechanistically, CBFA2T2
            oligomerizes to form a scaffold upon which PRDM14 and OCT4 are
            stabilized on chromatin
REFERENCE   4  (bases 1 to 7344)
  AUTHORS   Ajore R, Kumar P, Dhanda RS, Gullberg U and Olsson I.
  TITLE     The leukemia associated nuclear corepressor ETO homologue genes
            MTG16 and MTGR1 are regulated differently in hematopoietic cells
  JOURNAL   BMC Mol Biol 13, 11 (2012)
   PUBMED   22443175
  REMARK    GeneRIF: The MTGR1 gene depends on a GC-box-rich sequence for
            transcriptional regulation and possible ubiquitous expression.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 7344)
  AUTHORS   Barrett CW, Smith JJ, Lu LC, Markham N, Stengel KR, Short SP, Zhang
            B, Hunt AA, Fingleton BM, Carnahan RH, Engel ME, Chen X, Beauchamp
            RD, Wilson KT, Hiebert SW, Reynolds AB and Williams CS.
  TITLE     Kaiso directs the transcriptional corepressor MTG16 to the Kaiso
            binding site in target promoters
  JOURNAL   PLoS One 7 (12), e51205 (2012)
   PUBMED   23251453
REFERENCE   6  (bases 1 to 7344)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN,
            Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden
            JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM,
            Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor
            S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh
            VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry
            D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R,
            Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay
            H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce
            CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore
            N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC,
            Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL,
            Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM,
            Bentley DR, Beck S and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   7  (bases 1 to 7344)
  AUTHORS   Morohoshi F, Mitani S, Mitsuhashi N, Kitabayashi I, Takahashi E,
            Suzuki M, Munakata N and Ohki M.
  TITLE     Structure and expression pattern of a human MTG8/ETO family gene,
            MTGR1
  JOURNAL   Gene 241 (2), 287-295 (2000)
   PUBMED   10675041
REFERENCE   8  (bases 1 to 7344)
  AUTHORS   Fracchiolla,N.S., Colombo,G., Finelli,P., Maiolo,A.T. and Neri,A.
  TITLE     EHT, a new member of the MTG8/ETO gene family, maps on 20q11 region
            and is deleted in acute myeloid leukemias
  JOURNAL   Blood 92 (9), 3481-3484 (1998)
   PUBMED   9787195
REFERENCE   9  (bases 1 to 7344)
  AUTHORS   Calabi F and Cilli V.
  TITLE     CBFA2T1, a gene rearranged in human leukemia, is a member of a
            multigene family
  JOURNAL   Genomics 52 (3), 332-341 (1998)
   PUBMED   9790752
REFERENCE   10  (bases 1 to 7344)
  AUTHORS   Kitabayashi I, Ida K, Morohoshi F, Yokoyama A, Mitsuhashi N, Shimizu
            K, Nomura N, Hayashi Y and Ohki M.
  TITLE     The AML1-MTG8 leukemic fusion protein forms a complex with a novel
            member of the MTG8(ETO/CDR) family, MTGR1
  JOURNAL   Mol Cell Biol 18 (2), 846-858 (1998)
   PUBMED   9447981
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.14.1, SRR1660803.228731.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000342704.11/ ENSP00000345810.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162505.20, CB998035.1,
            BC016298.2 and AL121906.18.
            On Jun 2, 2019 this sequence version replaced NM_001032999.2.
            Summary: In acute myeloid leukemia, especially in the M2 subtype,
            the t(8;21)(q22;q22) translocation is one of the most frequent
            karyotypic abnormalities. The translocation produces a chimeric
            gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the
            3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is
            thought to associate with the nuclear corepressor/histone
            deacetylase complex to block hematopoietic differentiation. The
            protein encoded by this gene binds to the AML1-MTG8 complex and may
            be important in promoting leukemogenesis. Several transcript
            variants are thought to exist for this gene, but the full-length
            natures of only three have been described. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (3) differs in the 5' UTR and
            coding region compared to variant 2. The resulting isoform (MTGR1c)
            has a shorter and distinct N-terminus compared to isoform MTGR1b.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7344
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21-q11.22"
     gene            1..7344
                     /gene="CBFA2T2"
                     /gene_synonym="EHT; MTGR1; p85; ZMYND3"
                     /note="CBFA2/RUNX1 partner transcriptional co-repressor 2"
                     /db_xref="GeneID:9139"
                     /db_xref="HGNC:HGNC:1536"
                     /db_xref="MIM:603672"
     misc_feature    44..46
                     /gene="CBFA2T2"
                     /gene_synonym="EHT; MTGR1; p85; ZMYND3"
                     /note="upstream in-frame stop codon"
     CDS             173..1960
                     /gene="CBFA2T2"
                     /gene_synonym="EHT; MTGR1; p85; ZMYND3"
                     /note="isoform MTGR1c is encoded by transcript variant 3;
                     MTG8-like protein; ETO homolog on chromosome 20; protein
                     CBFA2T2; myeloid translocation gene-related protein 1;
                     MTG8-related protein 1; ETO homologous on chromosome 20;
                     myeloid translocation-related protein 1; core-binding
                     factor, runt domain, alpha subunit 2; translocated to, 2;
                     CBFA2/RUNX1 translocation partner 2"
                     /codon_start=1
                     /product="protein CBFA2T2 isoform MTGR1c"
                     /protein_id="NP_001028171.1"
                     /db_xref="CCDS:CCDS46590.1"
                     /db_xref="GeneID:9139"
                     /db_xref="HGNC:HGNC:1536"
                     /db_xref="MIM:603672"
                     /translation="MVGVPGAAAFQLGPEKRVPAMPGSPVEVKIQSRSSPPTMPPLPPI
                     NPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGA
                     RQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRP
                     FVIPFLKANLPLLQRELLHCARAAKQTPSQYLAQHEHLLLNTSIASPADSSELLMEVHG
                     NGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPP
                     LQHYTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWK
                     HLDHALNCIMEMVEKTRRSMAVLRRCQESDREELNYWKRRYNENTELRKTGTELVSRQH
                     SPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVNKVKIQAMSEVQKAVAEAEQKA
                     FEVIATERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARY
                     CGSFCQHKDWERHHRLCGQNLHGQSPHGQGRPLLPVGRGSSARSADCSVPSPALDKTSA
                     TTSRSSTPASVTAIDTNGL"
     regulatory      2584..2589
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBFA2T2"
                     /gene_synonym="EHT; MTGR1; p85; ZMYND3"
                     /note="hexamer: AATAAA"
     polyA_site      2606
                     /gene="CBFA2T2"
                     /gene_synonym="EHT; MTGR1; p85; ZMYND3"
     regulatory      7325..7330
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBFA2T2"
                     /gene_synonym="EHT; MTGR1; p85; ZMYND3"
                     /note="hexamer: AATAAA"
     polyA_site      7344
                     /gene="CBFA2T2"
                     /gene_synonym="EHT; MTGR1; p85; ZMYND3"
                     /note="major polyA site"
ORIGIN
        1 ggcggcggcg gcgacggcga cagcagcggt ggtggtgtct ggttagctcg gcggctgcag
       61 atctcgcggc gacgcctgcg agggacccgg gccgcgggtc gaggcgggcg gcgcctgcga
      121 gggacccgtg tcgcgggtag aggcgggcgg cgcgcggcgg cggcgctcgg cgatggtagg
      181 cgtccctgga gcggccgcct tccagcttgg tcctgagaaa agggtgccag cgatgcctgg
      241 atcgcctgtg gaagtgaaga tacagtccag atcctcacct cccaccatgc cacccctccc
      301 accaataaat cctggaggac cgaggccagt gtccttcact cctactgcat taagcaatgg
      361 catcaaccat tctcctccta ccctgaatgg tgccccatca ccgccacaga gattcagcaa
      421 tggtcctgcc tcctccacat catctgcact cacaaatcag caattgccag ccacttgtgg
      481 tgctcgacaa ctcagcaagt tgaaacgctt tcttaccact ctgcaacagt ttggcaatga
      541 catctcccct gagattgggg agaaggtgcg gactcttgtt cttgcactgg tgaactcaac
      601 agtgacaatt gaggaattcc actgtaagct ccaagaagcc acaaactttc cccttcgtcc
      661 ttttgtgatt ccatttctca aggccaacct gcccctgctg cagcgggaac tgctgcactg
      721 cgctcgggcg gccaagcaga ccccatccca gtacctggct cagcacgaac accttctgct
      781 caacacaagc attgcatcgc ctgctgactc gtcagagttg ctcatggagg tgcacggaaa
      841 tgggaagagg cccagtccag agaggagaga agagaatagt tttgatagag acacaattgc
      901 tcctgagcct cctgccaaga gagtatgtac catcagccct gctcctcggc acagtcctgc
      961 tctcactgtg cccctcatga atcccggggg ccaattccat cctacccctc cacctcttca
     1021 gcattacacc ttagaggata ttgcaacttc tcacctgtat cgggaaccca acaagatgct
     1081 agagcatcga gaagttcgtg atagacacca cagtcttggt ctaaatggag gctatcaaga
     1141 tgagttggta gatcatcgtt tgacagaaag ggaatgggct gatgaatgga aacatcttga
     1201 ccatgcgctg aattgcatta tggaaatggt agagaaaaca aggcgctcta tggcagttct
     1261 gcggcgctgt caggaatcag atcgtgaaga actcaactac tggaaaagac ggtacaatga
     1321 aaacacagag ctgaggaaaa cggggaccga gttggtctcc aggcagcaca gccctgggag
     1381 tgcagattct ctcagcaatg attctcagag agagttcaac agcaggccag gtacaggata
     1441 cgtacctgtg gagttttgga aaaaaacaga agaagctgtg aataaggtga aaattcaggc
     1501 catgtcagaa gtacagaagg ccgtcgctga ggcagagcag aaagcctttg aagtgattgc
     1561 aacagagaga gcacgaatgg agcaaaccat agcggatgtc aagcggcagg ccgcagagga
     1621 tgctttcctc gtcatcaatg agcaagagga gtccacggag aactgctgga actgtggccg
     1681 caaagccagc gagacatgca gtggctgcaa tatcgcgcga tactgtggct ctttctgcca
     1741 gcacaaggac tgggagcggc accaccgcct ctgtggtcag aacctgcatg gccagagccc
     1801 ccacggccag ggccggccgc tgcttcctgt aggcaggggc tcctctgcca ggtccgccga
     1861 ctgcagcgtg cccagcccag ccctcgacaa gacctcggca accacatcgc gttcctcaac
     1921 acctgcttct gtgacagcta tcgacaccaa cggactctga gccccggact ctgcttaccc
     1981 tgatggctgc tcagcaccac agagtgcttg ggctgaggga ctgactgttg gaacccgtgc
     2041 atgtagctgc cgggtcatca gcaagaaatg aattggaggc aggaagagtc caagcctgaa
     2101 taataacacc ccacagcctc tctgtgcact tgctgtctgc ggagccagtg tgccattctc
     2161 tgcacatggg cagccagcct gagctgcctc ctccatggct ttcctggttt gttcctctct
     2221 ccactgaagc tgacttagcc ggcccctttt cagtgtagac caccagctcc cctccccatc
     2281 tccttgagtc agcagactgt ccaatgtgct cagccaggct ggaggcggca ggcggcaggc
     2341 agcaggctgt ggaggaggcc cctcggtcag ggagcggcct gcctcacccc tgaatagctc
     2401 cttcggcccc atctccatcc tcagcagatg acactgattg gcctcacggg gacttgggta
     2461 agcaacaggc ggcattcagg actcttctca accctgctgt tcagacttga taagatctca
     2521 gagtccacag gaaagaagtc actgttgcaa taaaagcacc cgtagtagca aaaacataaa
     2581 acaaataaaa cttcccccac atcacagatg attttggaca agattttcca accttgctgg
     2641 ctactttagt ttgggacctg ttttttttct catttgattt tgcttgtgca gaaaatagtt
     2701 tccagcacat ggattgatct gagagagaat gaggctcagt tgtggatagt ctgttttctc
     2761 tgagcatgtt ggccaactag tatcgtcaaa ttattgagtg gatcatctct tggaaatgca
     2821 gaacttctgc caccacttgg ctatttgcac agtcatcttg ttctgtgtcc ttttatctct
     2881 cagaccacac acatctggaa cgctgtgggc atcttctgcc catgggctcc atttggcacc
     2941 tgctgagcca cagttgtcct gctggatgtg ctgtgcaggt tggtaggact tgcccccact
     3001 gtcaaggcct ggtctcatct gaaaagccct cctggacctc aaagaattct tcagacctca
     3061 tagttacagg tcattatatc tactatgttg atttatcatc aggcacacaa cttctgtttc
     3121 cttctcttgt gttatctgat agcgtccctc cttgagctca tcagaaaggt tttatgaaat
     3181 gtgaaccatt ttgggaaaag ctgatcaatt tttcttccta gcttcccatt ttcaaatggg
     3241 acatcactca tatccctttc agaatgttag gaactgcctc ccacattctt ccctgtcttt
     3301 ttgggttttg ttttttgttg ttgtggtggt tttttaacac aaagtctcac tctgttgccc
     3361 aggctggagt gcagtggcat gatcttggct cactgcaacc tctgccttcc aggttcaagc
     3421 aattctcctg cctcagcctc ccgagtagct gagattacag gcgcccacca ccacgcccag
     3481 ctaatttttg tatttttagt agagacaggg tttcaccatg ttggccaggc tgatctcgaa
     3541 ctcctgacct caggtgacct gccttggcct cccaaagtgc agggattaca agcgtgagcc
     3601 accatgcccg gcctgtcttt ttggttttga tgggagtctg aggaccccga cccctcctgc
     3661 tctccatctt tgagcctctg gcatcctctc acacccagaa atcagttgga gtaagtttaa
     3721 ttggccctgc tccagctggc ctttgaagca caagtttaaa tctccacctt ctgtgcactg
     3781 accagagtct aaaataaaag ttgtcagtac cataaaggaa aagggatcca cacaggtagc
     3841 cttctccttg gatacaggta catcttactg taagaatttc aagtcctggc tgggcgcagt
     3901 ggctcactcc tgtaatccca gcactttgag agaccgaggc aggcagatca cttgaggtca
     3961 ggaattcaag accaacctgg ccaacatggt gaaaccctgt ctctaataaa aaaaaaatag
     4021 aaaaatcagc cgggtgtggt ggcacacacc tgtaatccta gctactcagg aggctgaggc
     4081 aagagaatct cttgaacctg tgagccagag gttgcagtga gccgagattc caccactgca
     4141 ctccagcctg ggcaacagag caaaactctg tctcaaaaaa aaaaaaaaaa aggcaaaatt
     4201 aaagaatttc aagtccctaa tttactctaa ccaagcattt tcagtcttac aaagaaatct
     4261 agtgcacgac acctttaaaa tgcctagatt tccattgcct aaagtaaggt gtgaccagtg
     4321 aaacaacagc agagaatcat gttcctttgc tgtggaacac ataagcccca cagttttcca
     4381 gtcagcctaa tacatgggta tcccccgacc ccatctgcct ccttaagcca cagtccttgg
     4441 tggggaactc taagggggac ggagtcagta ccccggacag ggccacattt gcatgagaca
     4501 tggctgtctc acaggtcaca gagccattac aacagcttac tagtttttca tggatttgtt
     4561 ggattaacac cttaagcagg ttttttattg ttattttgtt tgtttgtttg ttttgagacg
     4621 ggagtttctc tcttgtctcc caggctggag tgcaatcgcg caatctcggc tcacggtaac
     4681 ctctgcctcc caggttcaag cgagtctcct gcctcagcct tctgagtagc tgggattaca
     4741 ggcatgcgcc accacgccca actaattttg tatttttagt agagacgggg tttctccttg
     4801 ttggtcaggc tggtctcaaa ccccggacct caggtgatcc ccccaccttg gcctcccaaa
     4861 gtgccaggat tacaggcatg agccactgtg tccggtcttg agcaggtttt taaaatctcc
     4921 agtggccata aaactagcca gggtagctca tgcttttact ggttggaata aggagccaaa
     4981 accaacaaaa taatatttat tagggctcga tgcccatttc tgtggctaag gcttaggttt
     5041 ggtgtgcaga gcctggcctg ctcttgtggg ctgtggttgc tgtgacagtt tcgttttctg
     5101 aatctttgta atgctcttcc accctgctcg tgctgcccag aggctgatct gcaaacctgg
     5161 gcagtattcc acactgaagc tcagtttgca aaccttctgc tgtgttaatt ctggtcagtt
     5221 tcacacagaa gtcacgaggg cctctgccca ggaccttcta ttcacatttc aagaatccct
     5281 ttctgaaatt ctccaactct ctggtcagga ggaggagcac cattggggcg gggtaggcag
     5341 ctagaggcgc aggagcgaat ccaggttcct tgcgtggttc ccagcctctg ctgacagcac
     5401 ctcagctacc aggtggggag tggaaattca gcctgcttag aggactgacc tctacagttc
     5461 atatttgcag tgacataaaa ggcaaagagg agctggcatg gtggtacaga aggtatcagt
     5521 caagcgcagg ctcttcagaa acctagaaac taaaaagaga tgcaacatgt gactggccat
     5581 cagccagaca tgtctagggt gagaccagtg ctcagcacca cccgccaagg aacactgatg
     5641 agttgtggga cattatggtc ggccaagtga ggaatgattg cagggaccag agaagaccaa
     5701 agatgccaga tgtccccaga gtttcttgag ggctgggttt cacgtctttg cttgtccttt
     5761 ttgtccccac ttgcctgcac cgtgcctgac tcatccagtg gggaaggtga ctcaagaagt
     5821 tgtttaagcc taggcctagg cagtccactt cgggaggtgg gggcactcca cactgggggg
     5881 ccctgcagct ccagggctgg tgctctagca gatccgctca ggcacggttg ggtgaccgtg
     5941 gggtcaccga ttgcgtagat tatttctagg gcagtgctgg gttagaaatg tctgtctgga
     6001 aacaggacac atcttgccac cacaagtcca cacctggcct tggctgctgc ccgctctctg
     6061 cagcgtggat ttcctttgcc catttgggcc agaaggtcac caggagttca tcactgctta
     6121 gtgtcaactt gacatcttca gcttccagac agaaaaccca tgctttactt tgtacagccc
     6181 tgtcccagag ttagtaagcc tcggcttgtc acctgcttgc aaagggtata gacatcattc
     6241 tgggtagttc tagaggatat cgcaacaagt gcgtttgaag gttcagcaca gctggaattg
     6301 tacggtagtg agctcttcaa aatgaaaaca gaatgaccgg atggccatct gtcctggaaa
     6361 ctgtagaatt gaataaatca ctgaaaatag aacacttctt ggaggctttc ttcagaactg
     6421 aactagaaac aaggtttcca ggctcccagg tcagtagacc aaaccaactt ccttagattt
     6481 ttttttttaa gctgtttgca gaaaactggg tggtagcgtg tctgaaccaa acggaagaat
     6541 agccagcgga gcatggactg ttccagcacg ggccagatgg ccagctgtcg agagcagccc
     6601 tgcccagatt gcggtggggg ctgtgccagc ggctccgcag ggcccttcca actctggagt
     6661 gtctgtagtt cttgtgaaac caaaacgttg actacctgcc tctttcctcg ggcatcgacg
     6721 tgctcatttc caaagatgat ggtgcaggtg accttttcca tcgtgagcta agagaaggtt
     6781 aggaggcctg aggggcgggc cttgtgtccc ctcctccccc tccacagccc ctgaggtgga
     6841 gcttccctca cagaccccat ctggtcgagc ctacggctgc ccagtgtaca ctcagtgatg
     6901 cttataccaa atagggcatg tgcgctggtg tctgttgggg acagccccat ccctaccttg
     6961 gagtcggcag agaagcagca ataagcatta ggcgaatgat tgaaagggct gctgcgccaa
     7021 gaggccttca gtccccttaa cgtggctttc caacttcctg acgaggctac aaaggctccg
     7081 ctcacaaaag aaagccaata atgtaaataa atagaaaacg aagcctccac gcgtggtttt
     7141 taaaggggga tgatgaatgt gacaccaccc acagaatgca ttagaatctg gtttttctgt
     7201 gctttgtcat tttactctga taggaatttt tgttacctaa ctctgtgcat aacttattta
     7261 atgtactgta taaatgaacc aaaactgtta aatatgtatt tagtttgttc tacttaaagt
     7321 agtcaataaa aaggctatat tcct
//
LOCUS       NM_001033               3142 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens ribonucleotide reductase catalytic subunit M1 (RRM1),
            transcript variant 1, mRNA.
ACCESSION   NM_001033
VERSION     NM_001033.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3142)
  AUTHORS   Ono H, Murase Y, Yamashita H, Kato T, Asano D, Ishikawa Y, Watanabe
            S, Ueda H, Akahoshi K, Ogawa K, Kudo A, Akiyama Y, Tanaka S and
            Tanabe M.
  TITLE     RRM1 is mediated by histone acetylation through gemcitabine
            resistance and contributes to invasiveness and ECM remodeling in
            pancreatic cancer
  JOURNAL   Int J Oncol 62 (4) (2023)
   PUBMED   36866763
  REMARK    GeneRIF: RRM1 is mediated by histone acetylation through gemcitabine
            resistance and contributes to invasiveness and ECM remodeling in
            pancreatic cancer.
REFERENCE   2  (bases 1 to 3142)
  AUTHORS   O'Connor CM, Taylor SE, Miller KM, Hurst L, Haanen TJ, Suhan TK,
            Zawacki KP, Noto FK, Trako J, Mohan A, Sangodkar J, Zamarin D, DiFeo
            A and Narla G.
  TITLE     Targeting Ribonucleotide Reductase Induces Synthetic Lethality in
            PP2A-Deficient Uterine Serous Carcinoma
  JOURNAL   Cancer Res 82 (4), 721-733 (2022)
   PUBMED   34921012
  REMARK    GeneRIF: Targeting Ribonucleotide Reductase Induces Synthetic
            Lethality in PP2A-Deficient Uterine Serous Carcinoma.
REFERENCE   3  (bases 1 to 3142)
  AUTHORS   Munoz-Montano W, Muniz-Hernandez S, Aviles-Salas A, Catalan R,
            Lara-Mejia L, Samtani-Bassarmal S, Cardona AF, Mendoza-Desion J,
            Hernandez-Cueto D, Maldonado A, Baay-Guzman G, Huerta-Yepes S and
            Arrieta O.
  TITLE     RRM1 and ERCC1 as biomarkers in patients with locally advanced and
            metastatic malignant pleural mesothelioma treated with continuous
            infusion of low-dose gemcitabine plus cisplatin
  JOURNAL   BMC Cancer 21 (1), 892 (2021)
   PUBMED   34353292
  REMARK    GeneRIF: RRM1 and ERCC1 as biomarkers in patients with locally
            advanced and metastatic malignant pleural mesothelioma treated with
            continuous infusion of low-dose gemcitabine plus cisplatin.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3142)
  AUTHORS   Khetan K, Sahoo RK, Baloda V, Shalimar, Vishnubhatla S, Saraya A,
            Dash NR, Sharma A, DattaGupta S and Das P.
  TITLE     Expression patterns and prognostic significances of RRM1 and ERCC1
            in pancreatic carcinoma and cholangiocarcinoma
  JOURNAL   Indian J Pathol Microbiol 64 (Supplement), S160-S165 (2021)
   PUBMED   34135160
  REMARK    GeneRIF: Expression patterns and prognostic significances of RRM1
            and ERCC1 in pancreatic carcinoma and cholangiocarcinoma.
REFERENCE   5  (bases 1 to 3142)
  AUTHORS   Besse B, Olaussen KA and Soria JC.
  TITLE     ERCC1 and RRM1: ready for prime time?
  JOURNAL   J Clin Oncol 31 (8), 1050-1060 (2013)
   PUBMED   23401439
  REMARK    GeneRIF: RRM1 biomarkers may represent a major step toward
            biology-based prescription of cytotoxic compounds for lung
            neoplasms. Review article
REFERENCE   6  (bases 1 to 3142)
  AUTHORS   Pavloff N, Rivard D, Masson S, Shen SH and Mes-Masson AM.
  TITLE     Sequence analysis of the large and small subunits of human
            ribonucleotide reductase
  JOURNAL   DNA Seq 2 (4), 227-234 (1992)
   PUBMED   1627826
REFERENCE   7  (bases 1 to 3142)
  AUTHORS   Parker NJ, Begley CG and Fox RM.
  TITLE     Human M1 subunit of ribonucleotide reductase: cDNA sequence and
            expression in stimulated lymphocytes
  JOURNAL   Nucleic Acids Res 19 (13), 3741 (1991)
   PUBMED   1840662
REFERENCE   8  (bases 1 to 3142)
  AUTHORS   Byrne J and Smith P.
  TITLE     Human polymorphic probe pE1.8 detects SacI polymorphism in the
            ribonucleotide reductase M1 subunit gene
  JOURNAL   Hum Genet 87 (3), 376 (1991)
   PUBMED   1677928
REFERENCE   9  (bases 1 to 3142)
  AUTHORS   Mann GJ, Musgrove EA, Fox RM and Thelander L.
  TITLE     Ribonucleotide reductase M1 subunit in cellular proliferation,
            quiescence, and differentiation
  JOURNAL   Cancer Res 48 (18), 5151-5156 (1988)
   PUBMED   3044582
REFERENCE   10  (bases 1 to 3142)
  AUTHORS   Brissenden JE, Caras I, Thelander L and Francke U.
  TITLE     The structural gene for the M1 subunit of ribonucleotide reductase
            maps to chromosome 11, band p15, in human and to chromosome 7 in
            mouse
  JOURNAL   Exp Cell Res 174 (1), 302-308 (1988)
   PUBMED   3275546
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.250532.1,
            SRR1660803.164459.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000300738.10/ ENSP00000300738.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP229960.1, BC006498.2,
            X59617.1, BQ775841.1, CB853003.1 and AC015689.12.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001033.4.
            Summary: This gene encodes the large and catalytic subunit of
            ribonucleotide reductase, an enzyme essential for the conversion of
            ribonucleotides into deoxyribonucleotides. A pool of available
            deoxyribonucleotides is important for DNA replication during S
            phase of the cell cycle as well as multiple DNA repair processes.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Dec 2015].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3142
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..3142
                     /gene="RRM1"
                     /gene_synonym="R1; RIR1; RR1"
                     /note="ribonucleotide reductase catalytic subunit M1"
                     /db_xref="GeneID:6240"
                     /db_xref="HGNC:HGNC:10451"
                     /db_xref="MIM:180410"
     misc_feature    164..166
                     /gene="RRM1"
                     /gene_synonym="R1; RIR1; RR1"
                     /note="upstream in-frame stop codon"
     CDS             215..2593
                     /gene="RRM1"
                     /gene_synonym="R1; RIR1; RR1"
                     /EC_number="1.17.4.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ribonucleotide reductase M1 polypeptide; ribonucleotide
                     reductase, R1 subunit; ribonucleoside-diphosphate reductase
                     large subunit; ribonucleoside-diphosphate reductase subunit
                     M1"
                     /codon_start=1
                     /product="ribonucleoside-diphosphate reductase large
                     subunit isoform 1"
                     /protein_id="NP_001024.1"
                     /db_xref="CCDS:CCDS7750.1"
                     /db_xref="GeneID:6240"
                     /db_xref="HGNC:HGNC:10451"
                     /db_xref="MIM:180410"
                     /translation="MHVIKRDGRQERVMFDKITSRIQKLCYGLNMDFVDPAQITMKVIQ
                     GLYSGVTTVELDTLAAETAATLTTKHPDYAILAARIAVSNLHKETKKVFSDVMEDLYNY
                     INPHNGKHSPMVAKSTLDIVLANKDRLNSAIIYDRDFSYNYFGFKTLERSYLLKINGKV
                     AERPQHMLMRVSVGIHKEDIDAAIETYNLLSERWFTHASPTLFNAGTNRPQLSSCFLLS
                     MKDDSIEGIYDTLKQCALISKSAGGIGVAVSCIRATGSYIAGTNGNSNGLVPMLRVYNN
                     TARYVDQGGNKRPGAFAIYLEPWHLDIFEFLDLKKNTGKEEQRARDLFFALWIPDLFMK
                     RVETNQDWSLMCPNECPGLDEVWGEEFEKLYASYEKQGRVRKVVKAQQLWYAIIESQTE
                     TGTPYMLYKDSCNRKSNQQNLGTIKCSNLCTEIVEYTSKDEVAVCNLASLALNMYVTSE
                     HTYDFKKLAEVTKVVVRNLNKIIDINYYPVPEACLSNKRHRPIGIGVQGLADAFILMRY
                     PFESAEAQLLNKQIFETIYYGALEASCDLAKEQGPYETYEGSPVSKGILQYDMWNVTPT
                     DLWDWKVLKEKIAKYGIRNSLLIAPMPTASTAQILGNNESIEPYTSNIYTRRVLSGEFQ
                     IVNPHLLKDLTERGLWHEEMKNQIIACNGSIQSIPEIPDDLKQLYKTVWEISQKTVLKM
                     AAERGAFIDQSQSLNIHIAEPNYGKLTSMHFYGWKQGLKTGMYYLRTRPAANPIQFTLN
                     KEKLKDKEKVSKEEEEKERNTAAMVCSLENRDECLMCGS"
     misc_feature    263..265
                     /gene="RRM1"
                     /gene_synonym="R1; RIR1; RR1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P23921.1); acetylation site"
     misc_feature    866..868
                     /gene="RRM1"
                     /gene_synonym="R1; RIR1; RR1"
                     /note="Important for hydrogen atom transfer.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P23921.1); other site"
     misc_feature    1340..1342
                     /gene="RRM1"
                     /gene_synonym="R1; RIR1; RR1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P23921.1); acetylation site"
     misc_feature    1544..1546
                     /gene="RRM1"
                     /gene_synonym="R1; RIR1; RR1"
                     /note="Important for hydrogen atom transfer.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P23921.1); other site"
     misc_feature    2423..2425
                     /gene="RRM1"
                     /gene_synonym="R1; RIR1; RR1"
                     /note="Important for electron transfer.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P23921.1); other site"
     misc_feature    2426..2428
                     /gene="RRM1"
                     /gene_synonym="R1; RIR1; RR1"
                     /note="Important for electron transfer.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P23921.1); other site"
     misc_feature    2465..2467
                     /gene="RRM1"
                     /gene_synonym="R1; RIR1; RR1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P23921.1); phosphorylation site"
     misc_feature    2573..2575
                     /gene="RRM1"
                     /gene_synonym="R1; RIR1; RR1"
                     /note="Interacts with thioredoxin/glutaredoxin.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P23921.1); other site"
     misc_feature    2582..2584
                     /gene="RRM1"
                     /gene_synonym="R1; RIR1; RR1"
                     /note="Interacts with thioredoxin/glutaredoxin.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P23921.1); other site"
     regulatory      3062..3067
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RRM1"
                     /gene_synonym="R1; RIR1; RR1"
                     /note="hexamer: AATAAA"
     polyA_site      3086
                     /gene="RRM1"
                     /gene_synonym="R1; RIR1; RR1"
                     /note="major polyA site"
     regulatory      3119..3124
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RRM1"
                     /gene_synonym="R1; RIR1; RR1"
                     /note="hexamer: TATAAA"
     polyA_site      3142
                     /gene="RRM1"
                     /gene_synonym="R1; RIR1; RR1"
ORIGIN
        1 ccctttgtgc gtcacgggtg gcgggcgcgg gaaggggatt tggattgttg cgcctctgct
       61 ctgaagaaag tgctgtctgg ctccaactcc agttctttcc cctgagcagc gcctggaacc
      121 taacccttcc cactctgtca ccttctcgat cccgccggcg ctttagagcc gcagtccagt
      181 cttggatcct tcagagcctc agccactagc tgcgatgcat gtgatcaagc gagatggccg
      241 ccaagaacga gtcatgtttg acaaaattac atctcgaatc cagaagcttt gttatggact
      301 caatatggat tttgttgatc ctgctcagat caccatgaaa gtaatccaag gcttgtacag
      361 tggggtcacc acagtggaac tagatacttt ggctgctgaa acagctgcaa ccttgactac
      421 taagcaccct gactatgcta tcctggcagc caggatcgct gtctctaact tgcacaaaga
      481 aacaaagaaa gtgttcagtg atgtgatgga agacctctat aactacataa atccacataa
      541 tggcaaacac tctcccatgg tggccaagtc aacattggat attgttctgg ccaataaaga
      601 tcgcctgaat tctgctatta tctatgaccg agatttctct tacaattact tcggctttaa
      661 gacgctagag cggtcttatt tgttgaagat caatggaaaa gtggctgaaa gaccacaaca
      721 tatgttgatg agagtatctg ttgggatcca caaagaagac attgatgcag caattgaaac
      781 atataatctt ctttctgaga ggtggtttac tcatgcttcg cccactctct tcaatgctgg
      841 taccaaccgc ccacaacttt ctagctgttt tcttctgagt atgaaagatg acagcattga
      901 aggcatttat gacactctaa agcaatgtgc attgatttct aagtctgctg gaggaattgg
      961 tgttgctgtg agttgtattc gggctactgg cagctacatt gctgggacta atggcaattc
     1021 caatggcctt gtaccgatgc tgagagtata taacaacaca gctcgatatg tggatcaagg
     1081 tgggaacaag cgtcctgggg catttgctat ttacctggag ccttggcatt tagacatctt
     1141 tgaattcctt gatttaaaga agaacacagg aaaggaagag cagcgtgcca gagatctttt
     1201 ctttgctctt tggattccgg atctcttcat gaaacgagtg gagactaatc aggactggtc
     1261 tttgatgtgt ccaaatgagt gtcctggtct ggatgaggtt tggggagagg aatttgagaa
     1321 actatatgca agttatgaga aacaaggtcg tgtccgcaaa gttgtaaaag ctcagcagct
     1381 ttggtatgcc atcattgagt ctcagacgga aacaggcacc ccgtatatgc tctacaaaga
     1441 ttcctgtaat cgaaagagca accagcagaa cctgggaacc atcaaatgca gcaacctgtg
     1501 cacagaaata gtggagtaca ccagcaaaga tgaggttgct gtttgtaatt tggcttccct
     1561 ggccctgaat atgtatgtca catcagaaca cacatacgac tttaagaagt tggctgaagt
     1621 cactaaagtc gttgtccgaa acttgaataa aattattgat ataaactact atcctgtacc
     1681 agaggcatgc ctatcaaata aacgccatcg ccccattgga attggggtac aaggtctggc
     1741 agatgctttt atcctgatga gatacccttt tgagagtgca gaagcccagt tactgaataa
     1801 gcagatcttt gaaactattt attatggtgc tctggaagcc agctgtgacc ttgccaagga
     1861 gcagggccca tacgaaacct atgagggctc tccagttagc aaaggaattc ttcagtatga
     1921 tatgtggaat gttactccta cagacctatg ggactggaag gttctcaagg agaagattgc
     1981 aaagtatggt ataagaaaca gtttacttat tgccccgatg cctacagctt ccactgctca
     2041 gatcctgggg aataatgagt ccattgaacc ttacaccagc aacatctata ctcgcagagt
     2101 cttgtcagga gaatttcaga ttgtaaatcc tcacttattg aaagatctta ccgagcgggg
     2161 cctatggcat gaagagatga aaaaccagat tattgcatgc aatggctcta ttcagagcat
     2221 accagaaatt cctgatgacc tgaagcaact ttataaaact gtgtgggaaa tctctcagaa
     2281 aactgttctc aagatggcag ctgagagagg tgctttcatt gatcaaagcc aatctttgaa
     2341 catccacatt gctgagccta actatggcaa actcactagt atgcacttct acggctggaa
     2401 gcagggtttg aagactggga tgtattattt aaggacaaga ccagcggcta atccaatcca
     2461 gttcactcta aataaggaga agctaaaaga taaagaaaag gtatcaaaag aggaagaaga
     2521 gaaggagagg aacacagcag ccatggtgtg ctctttggag aatagagatg aatgtctgat
     2581 gtgtggatcc tgaggaaaga cttggaagag accagcatgt cttcagtagc caaactactt
     2641 cttgagcata gataggtata gtgggtttgc ttgaggtggt aaggctttgc tggaccctgt
     2701 tgcaggcaaa aggagtaatt gatttaaagt actgttaatg atgataatga tttttttttt
     2761 aaactcatat attgggattt tcaccaaaat aatgcttttg aaaaaaagaa aaaaaaaacg
     2821 gatatattga gaatcaaagt agaagtttta ggaatgcaaa ataagtcatc ttgcatacag
     2881 ggagtggtta agtaaggttt catcacccct ttagcactgc ttttctgaag acttcagttt
     2941 tgttaaggag atttagtttt actgctttga ctggtgggtc tctagaagca aaactgagtg
     3001 ataactcatg agaagtactg ataggacctt tatctggata tggtcctata ggttattctg
     3061 aaataaagat aaacatttct aagtgattgt atgagattaa ttttgtcatt tactttcata
     3121 taaaagtcaa atttgaaaaa ca
//
LOCUS       NM_001033002             995 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens RPA interacting protein (RPAIN), transcript variant 2,
            mRNA.
ACCESSION   NM_001033002
VERSION     NM_001033002.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 995)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 995)
  AUTHORS   Song X, Rui C, Meng L, Zhang R, Shen R, Ding H, Li J, Li J and Long
            W.
  TITLE     Long non-coding RNA RPAIN regulates the invasion and apoptosis of
            trophoblast cell lines via complement protein C1q
  JOURNAL   Oncotarget 8 (5), 7637-7646 (2017)
   PUBMED   28032589
  REMARK    GeneRIF: Suggest that increased RPAIN levels may contribute to the
            development of preeclampsia through regulating trophoblast invasion
            and apoptosis via C1q.
REFERENCE   3  (bases 1 to 995)
  AUTHORS   Namkoong S, Lee EJ, Jang IS and Park J.
  TITLE     Elevated level of human RPA interacting protein alpha (hRIPalpha) in
            cervical tumor cells is involved in cell proliferation through
            regulating RPA transport
  JOURNAL   FEBS Lett 586 (20), 3753-3760 (2012)
   PUBMED   23010595
  REMARK    GeneRIF: hRIPalpha is involved in cell proliferation through
            regulation of RPA transport
REFERENCE   4  (bases 1 to 995)
  AUTHORS   Liu J, Henao-Mejia J, Liu H, Zhao Y and He JJ.
  TITLE     Translational regulation of HIV-1 replication by HIV-1 Rev cellular
            cofactors Sam68, eIF5A, hRIP, and DDX3
  JOURNAL   J Neuroimmune Pharmacol 6 (2), 308-321 (2011)
   PUBMED   21360055
  REMARK    GeneRIF: The results show that DDX3, eIF5A, and hRIP enhance HIV-1
            internal ribosomal entry site-mediated translation.
REFERENCE   5  (bases 1 to 995)
  AUTHORS   Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H,
            Hibberd ML and Seielstad M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 995)
  AUTHORS   Dagle JM, Lepp NT, Cooper ME, Schaa KL, Kelsey KJ, Orr KL, Caprau D,
            Zimmerman CR, Steffen KM, Johnson KJ, Marazita ML and Murray JC.
  TITLE     Determination of genetic predisposition to patent ductus arteriosus
            in preterm infants
  JOURNAL   Pediatrics 123 (4), 1116-1123 (2009)
   PUBMED   19336370
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 995)
  AUTHORS   Park J, Seo T, Kim H and Choe J.
  TITLE     Sumoylation of the novel protein hRIP{beta} is involved in
            replication protein A deposition in PML nuclear bodies
  JOURNAL   Mol Cell Biol 25 (18), 8202-8214 (2005)
   PUBMED   16135809
  REMARK    GeneRIF: hRIPbeta localises to the PML nuclear body and transports
            replication protein A (PML) into the PML nuclear body and releases
            RPA upon UV irradiation.
REFERENCE   8  (bases 1 to 995)
  AUTHORS   Chen JZ, Huang SD, Ji CN, Pang RY, Xie Y and Xue JL.
  TITLE     Identification, expression pattern, and subcellular location of
            human RIP isoforms
  JOURNAL   DNA Cell Biol 24 (7), 464-469 (2005)
   PUBMED   16008515
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY775314.1, BC013831.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381209.8/ ENSP00000370606.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY775314.1, BC013831.1 and BI091755.1.
            On Aug 11, 2020 this sequence version replaced NM_001033002.3.
            Transcript Variant: This variant (2) differs in the 3' coding
            region and 3' UTR, compared to variant 1. It encodes isoform b,
            which has a shorter and distinct C-terminus compared to isoform a.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..995
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..995
                     /gene="RPAIN"
                     /gene_synonym="HRIP; RIP"
                     /note="RPA interacting protein"
                     /db_xref="GeneID:84268"
                     /db_xref="HGNC:HGNC:28641"
                     /db_xref="MIM:617299"
     CDS             30..689
                     /gene="RPAIN"
                     /gene_synonym="HRIP; RIP"
                     /note="isoform b is encoded by transcript variant 2; RAP
                     interaction protein; nuclear transporter"
                     /codon_start=1
                     /product="RPA-interacting protein isoform b"
                     /protein_id="NP_001028174.2"
                     /db_xref="CCDS:CCDS32536.1"
                     /db_xref="GeneID:84268"
                     /db_xref="HGNC:HGNC:28641"
                     /db_xref="MIM:617299"
                     /translation="MAESLRSPRRSLYKLVGSPPWKEAFRQRCLERMRNSRDRLLNRYR
                     QAGSSGPGNSQNSFLVQEVMEEEWNALQSVENCPEDLAQLEELIDMAVLEEIQQELINQ
                     EQSIISEYEKSLQFDEKCLSIMLAEWEANPLICPVCTKYNLRITSGVVVCQCGLSIPSH
                     SSELTEQKLRACLEGSINEHSAHCPHTPEFSVTGGTEEKSSLLMSCLACDTWAVIL"
     misc_feature    81..83
                     /gene="RPAIN"
                     /gene_synonym="HRIP; RIP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86UA6.2); phosphorylation site"
     misc_feature    519..569
                     /gene="RPAIN"
                     /gene_synonym="HRIP; RIP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86UA6.2);
                     Region: Mediates nuclear export"
     regulatory      811..816
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPAIN"
                     /gene_synonym="HRIP; RIP"
                     /note="hexamer: AAGAAA"
     polyA_site      833
                     /gene="RPAIN"
                     /gene_synonym="HRIP; RIP"
     regulatory      975..980
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPAIN"
                     /gene_synonym="HRIP; RIP"
                     /note="hexamer: AATAAA"
     polyA_site      995
                     /gene="RPAIN"
                     /gene_synonym="HRIP; RIP"
                     /note="major polyA site"
ORIGIN
        1 cttgtggctt tgtctcccgc gaagaggaga tggcggagtc gttgaggtct ccgcgccgct
       61 ccctgtacaa actggtgggc tcgccgcctt ggaaagaggc tttccggcag agatgcctgg
      121 agagaatgag aaacagccgg gacaggctcc taaacaggta ccgccaggct ggaagcagtg
      181 ggccagggaa ttctcagaac agctttctag ttcaagaggt gatggaagaa gagtggaatg
      241 ctttgcagtc agtggagaat tgtccagaag acttggctca gctggaggag ctgatagaca
      301 tggctgtgct ggaggaaatt caacaggagc tgatcaacca agagcagtcc atcatcagcg
      361 agtatgagaa gagcttgcag tttgatgaaa agtgtctcag catcatgctg gctgagtggg
      421 aggcaaaccc actcatctgt cctgtatgta caaagtacaa cctgagaatc acaagcggtg
      481 tggtggtgtg tcagtgtggc ctgtccatcc catctcattc ttctgagttg acagagcaga
      541 agcttcgtgc ctgtttagag ggtagtataa atgagcacag tgcacattgt ccccacacac
      601 ctgaattttc agtcactgga ggaacagaag aaaagtccag tcttctcatg agctgtctgg
      661 cctgtgatac ttgggctgtg atcctctaga gccagcttgg actcacatca ttctatgggg
      721 ttgaagacaa ctcattccct ctgaggagcc ttgtacatac aagcctttta tttataactt
      781 attttgtatt gaaactttta aacaatactg aagaaaaaaa aacttttccg acatctgttc
      841 ttggtctttt gtgacgcagg ttgaaggggg aggaatagaa aaagacaaac tgccttggag
      901 gagataaacc aattttatgt ctatcatgtt atacaaaaat ctagaaataa tagatttgta
      961 cagaaaaaaa tgataataaa tgagaacaca aaaca
//
LOCUS       NM_001033017             299 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens defensin beta 135 (DEFB135), mRNA.
ACCESSION   NM_001033017
VERSION     NM_001033017.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 299)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
  REMARK    GeneRIF: The protein encoded by this gene is thought to display
            antimicrobial activity.
REFERENCE   2  (bases 1 to 299)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ012025.1, AY621332.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000382208.3/ ENSP00000371643.2
            Protein has antimicrobial activity :: PMID: 16033865
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC107918.5.
            On Oct 14, 2020 this sequence version replaced NM_001033017.2.
            Summary: Defensins are cysteine-rich cationic polypeptides that are
            important in the immunologic response to invading microorganisms.
            The antimicrobial protein encoded by this gene is secreted and is a
            member of the beta defensin protein family. Beta defensin genes are
            found in several clusters throughout the genome, with this gene
            mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014].
FEATURES             Location/Qualifiers
     source          1..299
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..299
                     /gene="DEFB135"
                     /gene_synonym="DEFB136"
                     /note="defensin beta 135"
                     /db_xref="GeneID:613209"
                     /db_xref="HGNC:HGNC:32400"
     misc_feature    36..38
                     /gene="DEFB135"
                     /gene_synonym="DEFB136"
                     /note="upstream in-frame stop codon"
     CDS             66..299
                     /gene="DEFB135"
                     /gene_synonym="DEFB136"
                     /note="beta-defensin 136; beta-defensin 135"
                     /codon_start=1
                     /product="beta-defensin 135 precursor"
                     /protein_id="NP_001028189.2"
                     /db_xref="CCDS:CCDS43710.1"
                     /db_xref="GeneID:613209"
                     /db_xref="HGNC:HGNC:32400"
                     /translation="MATRSVLLALVVLNLLFYVPPGRSGPNVYIQKIFASCWRLQGTCR
                     PKCLKNEQYRILCDTIHLCCVNPKYLPILTGK"
     sig_peptide     66..137
                     /gene="DEFB135"
                     /gene_synonym="DEFB136"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     138..296
                     /gene="DEFB135"
                     /gene_synonym="DEFB136"
                     /product="beta-defensin 135"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     16033865]"
ORIGIN
        1 gtctcttcaa agctgcggag agagtgactc tccgatgagt cacagctgct tctttgctga
       61 ttggtatggc cacaaggagc gtcctcttgg ccctcgtggt ccttaactta ctcttctatg
      121 ttccaccagg tagaagtgga cccaatgtct acatacaaaa aatctttgct tcatgttggc
      181 gactgcaagg tacttgccgg ccaaaatgtc taaaaaacga acaatatcgt attttgtgtg
      241 atactataca tttgtgctgt gtaaacccaa aatatttacc tatactgact gggaaatag
//
LOCUS       NM_001033018             237 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens defensin beta 136 (DEFB136), mRNA.
ACCESSION   NM_001033018
VERSION     NM_001033018.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 237)
  AUTHORS   Liu H, Diao H, Hou J, Yu H and Wen H.
  TITLE     Soluble expression and purification of human beta-defensin DEFB136
            in Escherichia coli and identification of its bioactivity
  JOURNAL   Protein Expr Purif 188, 105968 (2021)
   PUBMED   34481960
REFERENCE   2  (bases 1 to 237)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
  REMARK    GeneRIF: The protein encoded by this gene is thought to display
            antimicrobial activity.
REFERENCE   3  (bases 1 to 237)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ012026.1, AY621333.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000382209.2/ ENSP00000371644.2
            Protein has antimicrobial activity :: PMID: 16033865
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DQ012026.1.
            On Oct 21, 2006 this sequence version replaced NM_001033018.1.
            Summary: Defensins are cysteine-rich cationic polypeptides that are
            important in the immunologic response to invading microorganisms.
            The antimicrobial protein encoded by this gene is secreted and is a
            member of the beta defensin protein family. Beta defensin genes are
            found in several clusters throughout the genome, with this gene
            mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014].
FEATURES             Location/Qualifiers
     source          1..237
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..237
                     /gene="DEFB136"
                     /gene_synonym="DEFB137"
                     /note="defensin beta 136"
                     /db_xref="GeneID:613210"
                     /db_xref="HGNC:HGNC:34433"
     CDS             1..237
                     /gene="DEFB136"
                     /gene_synonym="DEFB137"
                     /note="beta-defensin 137; beta-defensin 136"
                     /codon_start=1
                     /product="defensin beta 136 precursor"
                     /protein_id="NP_001028190.2"
                     /db_xref="CCDS:CCDS43709.1"
                     /db_xref="GeneID:613210"
                     /db_xref="HGNC:HGNC:34433"
                     /translation="MNLCLSALLFFLVILLPSGKGMFGNDGVKVRTCTSQKAVCFFGCP
                     PGYRWIAFCHNILSCCKNMTRFQPPQAKDPWVH"
     sig_peptide     1..63
                     /gene="DEFB136"
                     /gene_synonym="DEFB137"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     64..234
                     /gene="DEFB136"
                     /gene_synonym="DEFB137"
                     /product="defensin beta 136"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     16033865]"
ORIGIN
        1 atgaacctct gtctttctgc attactcttt ttcctggtga tcttactgcc ttcaggaaaa
       61 ggtatgtttg ggaatgatgg agtcaaagtt cgcacctgca ctagccagaa agccgtatgt
      121 ttcttcgggt gtccgccagg atacaggtgg attgcgttct gccacaatat tctgtcttgc
      181 tgtaaaaata tgacacgttt tcaacccccg caagccaaag atccatgggt tcattaa
//
LOCUS       NM_001033025            2825 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens exostosin like glycosyltransferase 2 (EXTL2),
            transcript variant 2, mRNA.
ACCESSION   NM_001033025
VERSION     NM_001033025.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2825)
  AUTHORS   Marques C, Pocas J, Gomes C, Faria-Ramos I, Reis CA, Vives RR and
            Magalhaes A.
  TITLE     Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates
            heparan sulfate biosynthesis and shapes gastric cancer cell motility
            and invasion
  JOURNAL   J Biol Chem 298 (11), 102546 (2022)
   PUBMED   36181793
  REMARK    GeneRIF: Glycosyltransferases EXTL2 and EXTL3 cellular balance
            dictates heparan sulfate biosynthesis and shapes gastric cancer cell
            motility and invasion.
REFERENCE   2  (bases 1 to 2825)
  AUTHORS   Lei J, Deng H, Ran Y, Lv Y, Amhare AF, Wang L, Guo X, Han J and
            Lammi MJ.
  TITLE     Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in
            Patients with Osteoarthritis and Kashin-Beck Disease
  JOURNAL   Cartilage 13 (1_suppl), 818S-828S (2021)
   PUBMED   32517548
  REMARK    GeneRIF: Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2
            in Patients with Osteoarthritis and Kashin-Beck Disease.
REFERENCE   3  (bases 1 to 2825)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2825)
  AUTHORS   Pu A, Mishra MK, Dong Y, Ghorbanigazar S, Stephenson EL, Rawji KS,
            Silva C, Kitagawa H, Sawcer S and Yong VW.
  TITLE     The glycosyltransferase EXTL2 promotes proteoglycan deposition and
            injurious neuroinflammation following demyelination
  JOURNAL   J Neuroinflammation 17 (1), 220 (2020)
   PUBMED   32703234
  REMARK    GeneRIF: The glycosyltransferase EXTL2 promotes proteoglycan
            deposition and injurious neuroinflammation following demyelination.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2825)
  AUTHORS   Nadanaka S, Zhou S, Kagiyama S, Shoji N, Sugahara K, Sugihara K,
            Asano M and Kitagawa H.
  TITLE     EXTL2, a member of the EXT family of tumor suppressors, controls
            glycosaminoglycan biosynthesis in a xylose kinase-dependent manner
  JOURNAL   J Biol Chem 288 (13), 9321-9333 (2013)
   PUBMED   23395820
  REMARK    GeneRIF: EXTL2 functions to suppress GAG biosynthesis that is
            enhanced by a xylose kinase and the EXTL2-dependent mechanism that
            regulates GAG biosynthesis might be a 'quality control system' for
            proteoglycans
REFERENCE   6  (bases 1 to 2825)
  AUTHORS   Sobhany M, Dong J and Negishi M.
  TITLE     Two-step mechanism that determines the donor binding specificity of
            human UDP-N-acetylhexosaminyltransferase
  JOURNAL   J Biol Chem 280 (25), 23441-23445 (2005)
   PUBMED   15831490
  REMARK    GeneRIF: donor binding appears to undergo two distinct steps,
            beginning with the N-acetyl group expelling water from the donor-
            enzyme complex into the bulk solvent followed by positioning of the
            donor into the binding site for interactions with the enzyme
REFERENCE   7  (bases 1 to 2825)
  AUTHORS   McCormick C, Duncan G, Goutsos KT and Tufaro F.
  TITLE     The putative tumor suppressors EXT1 and EXT2 form a stable complex
            that accumulates in the Golgi apparatus and catalyzes the synthesis
            of heparan sulfate
  JOURNAL   Proc Natl Acad Sci U S A 97 (2), 668-673 (2000)
   PUBMED   10639137
REFERENCE   8  (bases 1 to 2825)
  AUTHORS   Kitagawa H, Shimakawa H and Sugahara K.
  TITLE     The tumor suppressor EXT-like gene EXTL2 encodes an alpha1,
            4-N-acetylhexosaminyltransferase that transfers
            N-acetylgalactosamine and N-acetylglucosamine to the common
            glycosaminoglycan-protein linkage region. The key enzyme for the
            chain initiation of heparan sulfate
  JOURNAL   J Biol Chem 274 (20), 13933-13937 (1999)
   PUBMED   10318803
REFERENCE   9  (bases 1 to 2825)
  AUTHORS   Saito T, Seki N, Yamauchi M, Tsuji S, Hayashi A, Kozuma S and Hori
            T.
  TITLE     Structure, chromosomal location, and expression profile of EXTR1 and
            EXTR2, new members of the multiple exostoses gene family
  JOURNAL   Biochem Biophys Res Commun 243 (1), 61-66 (1998)
   PUBMED   9473480
REFERENCE   10  (bases 1 to 2825)
  AUTHORS   Wuyts W, Van Hul W, Hendrickx J, Speleman F, Wauters J, De Boulle K,
            Van Roy N, Van Agtmael T, Bossuyt P and Willems PJ.
  TITLE     Identification and characterization of a novel member of the EXT
            gene family, EXTL2
  JOURNAL   Eur J Hum Genet 5 (6), 382-389 (1997)
   PUBMED   9450183
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC045681.1, SRR11853567.1518.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370114.8/ ENSP00000359132.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104506.2 and AK312895.1.
            On Nov 23, 2018 this sequence version replaced NM_001033025.2.
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the
            same isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2825
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.2"
     gene            1..2825
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /note="exostosin like glycosyltransferase 2"
                     /db_xref="GeneID:2135"
                     /db_xref="HGNC:HGNC:3516"
                     /db_xref="MIM:602411"
     misc_feature    261..263
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /note="upstream in-frame stop codon"
     CDS             282..1274
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /EC_number="2.4.1.223"
                     /note="isoform 1 is encoded by transcript variant 2;
                     glucuronyl-galactosyl-proteoglycan
                     4-alpha-N-acetylglucosaminyltransferase; processed
                     exostosin-like 2; exostoses (multiple)-like 2;
                     alpha-GalNAcT EXTL2; EXT-related protein 2;
                     alpha-1,4-N-acetylhexosaminyltransferase EXTL2"
                     /codon_start=1
                     /product="exostosin-like 2 isoform 1"
                     /protein_id="NP_001028197.1"
                     /db_xref="CCDS:CCDS775.1"
                     /db_xref="GeneID:2135"
                     /db_xref="HGNC:HGNC:3516"
                     /db_xref="MIM:602411"
                     /translation="MRCCHICKLPGRVMGIRVLRLSLVVILVLLLVAGALTALLPSVKE
                     DKMLMLRREIKSQGKSTMDSFTLIMQTYNRTDLLLKLLNHYQAVPNLHKVIVVWNNIGE
                     KAPDELWNSLGPHPIPVIFKQQTANRMRNRLQVFPELETNAVLMVDDDTLISTPDLVFA
                     FSVWQQFPDQIVGFVPRKHVSTSSGIYSYGSFEMQAPGSGNGDQYSMVLIGASFFNSKY
                     LELFQRQPAAVHALIDDTQNCDDIAMNFIIAKHIGKTSGIFVKPVNMDNLEKETNSGYS
                     GMWHRAEHALQRSYCINKLVNIYDSMPLRYSNIMISQFGFPYANYKRKI"
     misc_feature    348..410
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UBQ6.1);
                     transmembrane region"
     misc_feature    438..443
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /note="Cleavage; propagated from UniProtKB/Swiss-Prot
                     (Q9UBQ6.1); cleavage site"
     misc_feature    501..503
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9UBQ6.1); glycosylation site"
     regulatory      2806..2811
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /note="hexamer: AATAAA"
     polyA_site      2825
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /note="major polyA site"
ORIGIN
        1 actcggggac tgtcccttgc tccaggcgct cactttgcgg gcggcacttt ttccaggttg
       61 ttaatccagc taatggagaa ggatagatgc acgctacttg gtttagaaaa aaaaacaaaa
      121 atgagcaaac gagacgcccc ttccgtttta tgataactaa gctgcaggga aataaatcgg
      181 ctggccctac tgcaatctac tgcactcgag tgacaagtga gcctgcttct gtcaattact
      241 gaagctataa ggagattttt taaaaattaa acttcaacac aatgaggtgt tgccacatct
      301 gcaaacttcc tgggagagta atggggattc gagtgcttcg attatctttg gtggtcatcc
      361 tcgtattatt actggtagct ggtgctttga ctgccttact tcccagtgtt aaagaagaca
      421 agatgctcat gttgcgtagg gaaataaaat cccagggcaa gtccaccatg gactccttta
      481 ctctcataat gcagacgtac aacagaacag atctcttatt gaaactttta aatcattatc
      541 aggctgtacc aaatctgcac aaagtgattg tggtatggaa caatattgga gagaaggcac
      601 cagatgaatt atggaattct ctagggcccc accctatccc tgtgatcttc aaacaacaga
      661 cagcaaacag gatgagaaat cgactccagg tctttcctga actggaaacc aatgcagtgt
      721 tgatggtaga tgatgacaca ctcatcagca ccccagacct tgtttttgct ttctcagttt
      781 ggcagcaatt tcctgatcaa attgtaggat ttgttcctag aaagcacgtc tctacttcat
      841 caggtatcta cagttatgga agttttgaaa tgcaagcacc agggtctgga aatggtgacc
      901 agtactctat ggtgctgatt ggagcctcat tcttcaatag caaatatctt gaattatttc
      961 agaggcaacc tgcagctgtc catgctttga tagatgatac tcaaaactgt gatgatattg
     1021 ccatgaattt tatcattgcc aagcatattg gcaagacttc agggatattt gtgaagcctg
     1081 taaacatgga caatttggaa aaagaaacca acagtggcta ttctggaatg tggcatcgag
     1141 ctgagcacgc tctgcagagg tcttattgta taaataagct tgttaatatc tatgatagca
     1201 tgcccttaag atactccaac attatgattt cccagtttgg ttttccatat gccaactaca
     1261 aaagaaaaat ataaaagtaa aacaaacaaa aacaaacctg aaaactgctt ggcatttgag
     1321 tagcttctcc atgctatgta tttttttaag caacatcatg aattttatct actccagaag
     1381 tctctacaat agaaaaaaaa gtgcagtgct tctaggatat aaaattcaca ttacttttga
     1441 aagccaagaa gttggtctta tccagttagg tcttcttatg aagagttttc atccagggat
     1501 ataactcctt ggtcagtgat tttattgttt acatcctgag actgttctac agtttctttg
     1561 actcctggca tttgccttaa ggacctatag caagctgttt ctaggatcag aaactcaaga
     1621 gaggcatttc tctgcttttt cactaaaggt cagttgtttt aatttgaaac ctgaaatgcc
     1681 tctttagcaa aagcctgtgg tatggggtaa agccatgtaa gaagagaata gtctcagtca
     1741 catatgaaga ggaaaatttg cagctgccag tgctttcctt gtggccctgc caaccagctc
     1801 ttccaggacg aactcagtcc agcatggttt tgatgtaacc atccatgctt ttatttttgt
     1861 taagtctttt gtgactggga cagttaattt tagtagctga agaacgtcta gttgtttgct
     1921 tgatatttgt gaacatttac tgcatggatc acaaaacaat ataccctgta tttcttacac
     1981 gccacttata tgcagcaagg agtaaatgtg ttactagatt cgggtagtgc attttgtcac
     2041 tgaatctgac cttgagaatg tacattaatt cttatatttt acataatgta tgtgttgttt
     2101 aagaaatgta taaaaaacct gaaaaaaatg agtaagaact ggcagaagtt aaaacccttt
     2161 gtatcaaaag atctttattg gtagagcact ggttatcttc tggatactaa aaagttgtat
     2221 tacaaagcca aacacttgca ttcacaactt taaaaaaaga tccaaggaac tattcataat
     2281 gatgaaattt caactacata caaggaggag aaaataagaa cccagtcata acagaggaat
     2341 tctataggag tctgcatcaa ttcattctta aggttgccta ctctctgtta tgtgaattag
     2401 cgtctgtgtt tcacccattg tctgtgttta gtccttgttc accactaagg caaggaattc
     2461 ttaactaggc ctctgtttac caacttctct ttctcctcct ttccctctta ttcctccttc
     2521 tcctcttcct tcttatataa tgctagtata ttctcaaaat tgcaaagctg tgagaatatt
     2581 aaaataatca tggctaatgt tccaataatg aggtctttgt gcatttagtt ccgcatatga
     2641 tggttttttt tttacattaa agagtatatg tgtcttaatg cagtcagatt gtaaaaaaca
     2701 aaaacaaaga aactaagaat cttactaaaa atcgataatg tcagttatct gttttgtcca
     2761 atattggtag tacttttttg cctcttatga ttcctctagc agataaataa aagaaacttt
     2821 tgcca
//
LOCUS       NM_001033026            2687 bp    mRNA    linear   PRI 02-APR-2023
DEFINITION  Homo sapiens transmembrane protein 259 (TMEM259), transcript variant
            1, mRNA.
ACCESSION   NM_001033026
VERSION     NM_001033026.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2687)
  AUTHORS   van de Weijer ML, Krshnan L, Liberatori S, Guerrero EN, Robson-Tull
            J, Hahn L, Lebbink RJ, Wiertz EJHJ, Fischer R, Ebner D and Carvalho
            P.
  TITLE     Quality Control of ER Membrane Proteins by the RNF185/Membralin
            Ubiquitin Ligase Complex
  JOURNAL   Mol Cell 79 (5), 768-781 (2020)
   PUBMED   32738194
  REMARK    Erratum:[Mol Cell. 2020 Oct 15;80(2):374-375. PMID: 33065021]
REFERENCE   2  (bases 1 to 2687)
  AUTHORS   Chen YC, Davidson B, Cheng CC, Maitra A, Giuntoli RL 2nd, Hruban RH,
            Wang TL and Shih IeM.
  TITLE     Identification and characterization of membralin, a novel
            tumor-associated gene, in ovarian carcinoma
  JOURNAL   Biochim Biophys Acta 1730 (2), 96-102 (2005)
   PUBMED   16084606
  REMARK    GeneRIF: Study provides first characterization of human membralin
            and suggests that membralin is a novel tumor-associated marker in
            ovarian serous carcinomas.
REFERENCE   3  (bases 1 to 2687)
  AUTHORS   Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J,
            Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr
            M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano
            A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin
            E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D,
            Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M,
            Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J,
            Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou
            Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J,
            Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP,
            Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers
            S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V,
            Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J,
            Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M,
            Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar
            DS, Myers RM, Rubin EM and Lucas SM.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
REFERENCE   4  (bases 1 to 2687)
  AUTHORS   Andersson O and von Euler G.
  TITLE     Characterization and expression of the gene encoding membralin, an
            evolutionary conserved protein expressed in the central nervous
            system
  JOURNAL   Brain Res Gene Expr Patterns 1 (3-4), 205-212 (2002)
   PUBMED   12638133
  REMARK    GeneRIF: genomic organization and expression (membralin)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.550455.1, DQ005958.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148093
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000356663.8/ ENSP00000349087.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK095756.1, BQ895919.1, DQ005958.1 and AK090400.1.
            On Nov 23, 2018 this sequence version replaced NM_001033026.1.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2687
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..2687
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN; R32184_3"
                     /note="transmembrane protein 259"
                     /db_xref="GeneID:91304"
                     /db_xref="HGNC:HGNC:17039"
                     /db_xref="MIM:611011"
     misc_feature    107..109
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN; R32184_3"
                     /note="upstream in-frame stop codon"
     CDS             128..1990
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN; R32184_3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aspecific BCL2 ARE-binding protein 1"
                     /codon_start=1
                     /product="membralin isoform 1"
                     /protein_id="NP_001028198.1"
                     /db_xref="CCDS:CCDS32862.1"
                     /db_xref="GeneID:91304"
                     /db_xref="HGNC:HGNC:17039"
                     /db_xref="MIM:611011"
                     /translation="MSEHVEPAAPGPGPNGGGGGPAPARGPRTPNLNPNPLINVRDRLF
                     HALFFKMAVTYSRLFPPAFRRLFEFFVLLKALFVLFVLAYIHIVFSRSPINCLEHVRDK
                     WPREGILRVEVRHNSSRAPVFLQFCDSGGRGSFPGLAVEPGSNLDMEDEEEEELTMEMF
                     GNSSIKFELDIEPKVFKPPSSTEALNDSQEFPFPETPTKVWPQDEYIVEYSLEYGFLRL
                     SQATRQRLSIPVMVVTLDPTRDQCFGDRFSRLLLDEFLGYDDILMSSVKGLAENEENKG
                     FLRNVVSGEHYRFVSMWMARTSYLAAFAIMVIFTLSVSMLLRYSHHQIFVFIVDLLQML
                     EMNMAIAFPAAPLLTVILALVGMEAIMSEFFNDTTTAFYIILIVWLADQYDAICCHTST
                     SKRHWLRFFYLYHFAFYAYHYRFNGQYSSLALVTSWLFIQHSMIYFFHHYELPAILQQV
                     RIQEMLLQAPPLGPGTPTALPDDMNNNSGAPATAPDSAGQPPALGPVSPGASGSPGPVA
                     AAPSSLVAAAASVAAAAGGDLGWMAETAAIITDASFLSGLSASLLERRPASPLGPAGGL
                     PHAPQDSVPPSDSAASDTTPLGAAVGGPSPASMAPTEAPSEVGS"
     misc_feature    128..226
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN; R32184_3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4ZIN3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    131..133
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN; R32184_3"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (Q4ZIN3.1); acetylation site"
     misc_feature    212..214
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN; R32184_3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q4ZIN3.1); phosphorylation site"
     misc_feature    335..397
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN; R32184_3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4ZIN3.1);
                     transmembrane region"
     misc_feature    692..694
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN; R32184_3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q4ZIN3.1); glycosylation site"
     misc_feature    1031..1093
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN; R32184_3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4ZIN3.1);
                     transmembrane region"
     misc_feature    1163..1225
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN; R32184_3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4ZIN3.1);
                     transmembrane region"
     misc_feature    1403..1465
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN; R32184_3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4ZIN3.1);
                     transmembrane region"
     misc_feature    1547..1678
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN; R32184_3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4ZIN3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1829..1987
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN; R32184_3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4ZIN3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2666..2671
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN; R32184_3"
                     /note="hexamer: AATAAA"
     polyA_site      2687
                     /gene="TMEM259"
                     /gene_synonym="ASBABP1; C19orf6; MBRL; MEMBRALIN; R32184_3"
                     /note="major polyA site"
ORIGIN
        1 gagaaagcgg aagatggcgg cggcggccgg gaggccgtga ggagagcggc ggctgcgagg
       61 gcggccgatg gcggccggga ggcgccctcg gacacttgcg ggtcgttagg gcgcgacgct
      121 gggaggcatg tcggagcacg tggagcccgc agctccgggg cccgggccca acggcggcgg
      181 cggcggcccg gcccccgcgc gcgggcctcg cacccccaat ctcaacccca accccctcat
      241 caacgtgcgc gaccggctct tccacgcgct gttcttcaag atggctgtca cctattcgcg
      301 gctcttcccg cccgccttcc gccgtctctt cgagttcttc gtgctgctca aggccctgtt
      361 tgtgctcttc gtcctggcct acatccacat cgtcttctcc cgctcgccca tcaactgcct
      421 ggagcatgtg cgtgacaagt ggccgcgtga gggcatcctg cgtgtggaag tgcggcacaa
      481 ctcgagccgc gcgcccgtct tcctacagtt ctgtgacagc ggcggccgcg ggagcttccc
      541 gggcctggcc gtggaaccag gcagcaacct ggacatggaa gatgaggagg aggaagagct
      601 gaccatggag atgtttggga acagctccat caagtttgag ctggacatcg agcccaaggt
      661 gttcaagccg ccgagtagca cagaggccct gaatgacagc caggagttcc ccttccccga
      721 gacgcccacc aaagtgtggc cgcaggacga gtacatcgtg gagtactcac tagagtatgg
      781 cttccttcgc ctgtcgcagg ccacccgcca gcgcctgagc atccccgtca tggtggtcac
      841 cctggacccc acgcgggacc agtgcttcgg ggaccgcttc agccgcctgc tgctggatga
      901 gttcctgggc tacgatgaca tcctcatgtc cagcgtgaag ggcctggccg agaacgagga
      961 gaacaagggc ttcctgcgga atgtggtgtc gggcgagcac taccgctttg tgagcatgtg
     1021 gatggcgcgg acgtcctacc tggccgcctt cgccatcatg gtcatcttca cgctgagcgt
     1081 gtccatgctg ctgcggtact cacaccacca gatcttcgtc ttcatcgtgg acctgctgca
     1141 gatgctggag atgaacatgg ccatcgcctt ccccgcagcg cccctgctga ccgtcatcct
     1201 ggccctcgtc gggatggagg ccatcatgtc ggagttcttc aacgacacca ccaccgcctt
     1261 ctacatcatc ctcatcgtgt ggctcgcgga ccagtatgac gccatctgct gccacaccag
     1321 caccagcaag cggcattggc tgcggttctt ctatctctac cacttcgcct tctatgccta
     1381 tcactaccgc ttcaatgggc agtatagcag cctggccctg gtcacctcct ggctcttcat
     1441 ccagcattcc atgatctact tcttccacca ctacgagctg cctgccatcc tgcagcaggt
     1501 ccgcatccag gagatgctgc ttcaggcgcc gccactgggc cccgggaccc ccacggcgct
     1561 gcccgatgac atgaacaaca actcgggcgc cccggctaca gcccctgact ctgccggcca
     1621 gccccccgcc ctgggccccg tctcgcctgg ggccagcggg agtcccgggc ctgtggcagc
     1681 ggcgcccagc tccctggtgg ccgcggcagc ctcagtggca gcagctgccg gtggtgacct
     1741 gggttggatg gcagagaccg ctgccatcat cacagacgcc tccttcctgt ccggcctgag
     1801 cgcctccctc ctggagcggc gtccagccag cccgctgggc cctgctgggg gcctccccca
     1861 cgccccccag gacagtgtcc ccccgagtga ctccgcagct tctgacacaa ctcccctggg
     1921 ggctgcggta ggcgggccta gcccggcctc catggcccca acggaggcgc cctcggaggt
     1981 ggggtcctga gccgcacagc tgagccgcct ctgacccctg ctggctgggc ctgaccttcc
     2041 cgagcccgtg ggggtggggg aggccagcca cctccttcct ctgggactgc ccagcctgtg
     2101 tcgggggctt tcagggtttc gtggggtttg cccggaaggc ggctttcctc cccctggtgt
     2161 gaggtcgcgc ccgaggcttg tacccgctag tgaggtgttt gagctggtca gcaaggagag
     2221 ggggtggggt tccgcggaag gttctggagg ggtcttggta ggtctgcagt gaaccgtcct
     2281 gaggatggag tggggtccca tggtgcaggt ctctgagcaa ggcggaggtg tggaggagag
     2341 gccggcttgg ggtggggcct cgcgccctag tgccggccgg cctcagcccg gctctgcctg
     2401 gtgctccctg cagtgccttc tccatggccc cgccctcccc gcgtgtgcgc caggcttggg
     2461 gtccccggga gagcagagct tgcgcctcgg gcatagggac gtggggtgca ggcgccaaca
     2521 tcagtggcag cagccagggc cgtggtccag tcccactcgg ggatggagtg ggccggcggc
     2581 caaaccagtc actcggggag gaatgcggag gagcgctcat tccattctat ttaattgcag
     2641 tgtacaaaat tgtgtttgta tatagaataa actgtctgtt gacagcg
//
LOCUS       NM_001033031            1086 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript
            variant 2, mRNA.
ACCESSION   NM_001033031
VERSION     NM_001033031.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1086)
  AUTHORS   Kaku H, Balaj AR and Rothstein TL.
  TITLE     Small Heat Shock Proteins Collaborate with FAIM to Prevent
            Accumulation of Misfolded Protein Aggregates
  JOURNAL   Int J Mol Sci 23 (19), 11841 (2022)
   PUBMED   36233145
  REMARK    GeneRIF: Small Heat Shock Proteins Collaborate with FAIM to Prevent
            Accumulation of Misfolded Protein Aggregates. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 1086)
  AUTHORS   Han T, Wang P, Wang Y, Xun W, Lei J, Wang T, Lu Z, Gan M, Zhang W,
            Yu B and Wang JB.
  TITLE     FAIM regulates autophagy through glutaminolysis in lung
            adenocarcinoma
  JOURNAL   Autophagy 18 (6), 1416-1432 (2022)
   PUBMED   34720024
  REMARK    GeneRIF: FAIM regulates autophagy through glutaminolysis in lung
            adenocarcinoma.
REFERENCE   3  (bases 1 to 1086)
  AUTHORS   Wang P, Xun W, Han T and Cheng Z.
  TITLE     FAIM-S functions as a negative regulator of NF-kappaB pathway and
            blocks cell cycle progression in NSCLC cells
  JOURNAL   Cell Cycle 19 (24), 3458-3467 (2020)
   PUBMED   33249986
  REMARK    GeneRIF: FAIM-S functions as a negative regulator of NF-kappaB
            pathway and blocks cell cycle progression in NSCLC cells.
REFERENCE   4  (bases 1 to 1086)
  AUTHORS   Xiao X, Qiu P, Gong HZ, Chen XM, Sun Y, Hong A and Ma Y.
  TITLE     PACAP ameliorates hepatic metabolism and inflammation through
            up-regulating FAIM in obesity
  JOURNAL   J Cell Mol Med 23 (9), 5970-5980 (2019)
   PUBMED   31270932
  REMARK    GeneRIF: PACAP ameliorates hepatic metabolism and inflammation
            through up-regulating FAIM in obesity.
REFERENCE   5  (bases 1 to 1086)
  AUTHORS   Coccia E, Calleja-Yague I, Planells-Ferrer L, Sanuy B, Sanz B,
            Lopez-Soriano J, Moubarak RS, Munell F, Barneda-Zahonero B, Comella
            JX and Perez-Garcia MJ.
  TITLE     Identification and characterization of new isoforms of human fas
            apoptotic inhibitory molecule (FAIM)
  JOURNAL   PLoS One 12 (10), e0185327 (2017)
   PUBMED   28981531
  REMARK    GeneRIF: subcellular fractionation experiments revealed that, in
            contrast to FAIM-S and FAIM-L, FAIM-S_2a and FAIM-L_2a are able to
            localize to the nucleus, where they may have additional functions.
            In summary, here we report on two novel FAIM isoforms that may have
            relevant roles in the physiology and pathology of the nervous system
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1086)
  AUTHORS   Segura MF, Sole C, Pascual M, Moubarak RS, Perez-Garcia MJ,
            Gozzelino R, Iglesias V, Badiola N, Bayascas JR, Llecha N,
            Rodriguez-Alvarez J, Soriano E, Yuste VJ and Comella JX.
  TITLE     The long form of Fas apoptotic inhibitory molecule is expressed
            specifically in neurons and protects them against death
            receptor-triggered apoptosis
  JOURNAL   J Neurosci 27 (42), 11228-11241 (2007)
   PUBMED   17942717
  REMARK    GeneRIF: Expression of the long form of Fas apoptotic inhibitory
            molecule (FAIML) results in the protection of neurons from the
            cytotoxic actions of death ligands.
REFERENCE   7  (bases 1 to 1086)
  AUTHORS   Choi CY, Reimers K, Allmeling C, Kall S, Choi YH and Vogt PM.
  TITLE     Inhibition of apoptosis by expression of antiapoptotic proteins in
            recombinant human keratinocytes
  JOURNAL   Cell Transplant 16 (6), 663-674 (2007)
   PUBMED   17912957
  REMARK    GeneRIF: Human keratinocytes were transfected with either Flip,
            Faim, or Lifeguard (LFG). Our results suggest that heterotopic
            expression of antiapoptotic proteins can induce the resistance of
            keratinocytes to a major mechanism of rejection.
REFERENCE   8  (bases 1 to 1086)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   9  (bases 1 to 1086)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
REFERENCE   10  (bases 1 to 1086)
  AUTHORS   Schneider TJ, Fischer GM, Donohoe TJ, Colarusso TP and Rothstein TL.
  TITLE     A novel gene coding for a Fas apoptosis inhibitory molecule (FAIM)
            isolated from inducibly Fas-resistant B lymphocytes
  JOURNAL   J Exp Med 189 (6), 949-956 (1999)
   PUBMED   10075978
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.146362.1, BQ638715.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144120,
            SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000360570.8/ ENSP00000353775.3
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK125477.1, BQ638715.1 and
            BC012478.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001033031.1.
            Summary: The protein encoded by this gene protects against death
            receptor-triggered apoptosis and regulates B-cell signaling and
            differentiation. Several transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2011].
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (b)
            has a shorter and distinct N-terminus compared to isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1086
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.3"
     gene            1..1086
                     /gene="FAIM"
                     /gene_synonym="FAIM1"
                     /note="Fas apoptotic inhibitory molecule"
                     /db_xref="GeneID:55179"
                     /db_xref="HGNC:HGNC:18703"
                     /db_xref="MIM:617535"
     misc_feature    127..129
                     /gene="FAIM"
                     /gene_synonym="FAIM1"
                     /note="upstream in-frame stop codon"
     CDS             184..789
                     /gene="FAIM"
                     /gene_synonym="FAIM1"
                     /note="isoform b is encoded by transcript variant 2; fas
                     apoptotic inhibitory molecule 1"
                     /codon_start=1
                     /product="fas apoptotic inhibitory molecule 1 isoform b"
                     /protein_id="NP_001028203.1"
                     /db_xref="CCDS:CCDS33865.1"
                     /db_xref="GeneID:55179"
                     /db_xref="HGNC:HGNC:18703"
                     /db_xref="MIM:617535"
                     /translation="MASGDDSPIFEDDESPPYSLEKMTDLVAVWDVALSDGVHKIEFEH
                     GTTSGKRVVYVDGKEEIRKEWMFKLVGKETFYVGAAKTKATINIDAISGFAYEYTLEIN
                     GKSLKKYMEDRSKTTNTWVLHMDGENFRIVLEKDAMDVWCNGKKLETAGEFVDDGTETH
                     FSIGNHDCYIKAVSSGKRKEGIIHTLIVDNREIPEIAS"
     regulatory      1067..1072
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAIM"
                     /gene_synonym="FAIM1"
                     /note="hexamer: AATAAA"
     polyA_site      1086
                     /gene="FAIM"
                     /gene_synonym="FAIM1"
                     /note="major polyA site"
ORIGIN
        1 agtcggcgcg tttggtactc gcgcctgcag agctttcaac ctccgcgccg gctgcgcctg
       61 tttctcggcc aggggagcaa ggccacgcgg cctacgcagc cgagtcggaa ccaaccggtt
      121 gtttggtgaa acctacccca gagcctcccg cggcccacag agcacagact gtttttgcca
      181 accatggcat ctggagatga cagtcctatc tttgaagatg atgaaagccc tccttacagc
      241 ctagaaaaaa tgacagatct cgtagctgtt tgggatgttg ctttaagtga cggagtccac
      301 aagatcgaat ttgaacatgg gactacatca ggcaaacgag tagtatatgt agatggaaag
      361 gaagagataa gaaaagagtg gatgttcaaa ttagtgggca aagaaacatt ctatgttgga
      421 gctgcaaaga caaaagcgac cataaatata gacgctatca gtggttttgc ttatgaatat
      481 actctggaaa ttaatgggaa aagtctcaag aagtatatgg aggacagatc aaaaaccacc
      541 aatacttggg tattacacat ggatggtgag aactttagaa ttgttttgga aaaagatgct
      601 atggacgtat ggtgcaatgg taaaaaattg gagacagcgg gtgagtttgt agatgatggg
      661 actgaaactc acttcagtat cgggaaccat gactgttaca taaaggctgt cagtagtggg
      721 aagcggaaag aagggattat tcatactctc attgtggata atagagaaat cccagagatt
      781 gcaagttaat gaattttcat cttaagaagt aaagatcagg actttttaat tactgtggta
      841 attaaatgtg ttcagtatgt acttatcagt acatttagtc tgcaatgttt taatttttta
      901 aaaagttaca tgaaactaac attccaaggg tcaggaaaaa aaccaattat gtatagtcat
      961 aaaaattaca atttatgatg caaataatgt aaaatgtttt aaagacaaat ggcaaataag
     1021 atatggacca aagtcactaa tgttttacaa cagtaacctt tactataata aatactttta
     1081 aaaaaa
//
LOCUS       NM_001033044            7554 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens glutamate-ammonia ligase (GLUL), transcript variant 2,
            mRNA.
ACCESSION   NM_001033044
VERSION     NM_001033044.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7554)
  AUTHORS   Peng S, Wang Z, Tang P, Wang S, Huang Y, Xie Q, Wang Y, Tan X, Tang
            T, Yan X, Xu J, Lan W, Wang L, Zhang D, Wang B, Pan T, Qin J, Jiang
            J and Liu Q.
  TITLE     PHF8-GLUL axis in lipid deposition and tumor growth of clear cell
            renal cell carcinoma
  JOURNAL   Sci Adv 9 (31), eadf3566 (2023)
   PUBMED   37531433
  REMARK    GeneRIF: PHF8-GLUL axis in lipid deposition and tumor growth of
            clear cell renal cell carcinoma.
REFERENCE   2  (bases 1 to 7554)
  AUTHORS   Wei J, Yu W, Chen J, Huang G, Zhang L, Chen Z, Hu M, Gong X and Du
            H.
  TITLE     Single-cell and spatial analyses reveal the association between gene
            expression of glutamine synthetase with the immunosuppressive
            phenotype of APOE+CTSZ+TAM in cancers
  JOURNAL   Mol Oncol 17 (4), 611-628 (2023)
   PUBMED   36587392
  REMARK    GeneRIF: Single-cell and spatial analyses reveal the association
            between gene expression of glutamine synthetase with the
            immunosuppressive phenotype of APOE+CTSZ+TAM in cancers.
REFERENCE   3  (bases 1 to 7554)
  AUTHORS   Campolo N, Mastrogiovanni M, Mariotti M, Issoglio FM, Estrin D,
            Hagglund P, Grune T, Davies MJ, Bartesaghi S and Radi R.
  TITLE     Multiple oxidative post-translational modifications of human
            glutamine synthetase mediate peroxynitrite-dependent enzyme
            inactivation and aggregation
  JOURNAL   J Biol Chem 299 (3), 102941 (2023)
   PUBMED   36702251
  REMARK    GeneRIF: Multiple oxidative post-translational modifications of
            human glutamine synthetase mediate peroxynitrite-dependent enzyme
            inactivation and aggregation.
REFERENCE   4  (bases 1 to 7554)
  AUTHORS   Xuan DTM, Wu CC, Wang WJ, Hsu HP, Ta HDK, Anuraga G, Chiao CC and
            Wang CY.
  TITLE     Glutamine synthetase regulates the immune microenvironment and
            cancer development through the inflammatory pathway
  JOURNAL   Int J Med Sci 20 (1), 35-49 (2023)
   PUBMED   36619229
  REMARK    GeneRIF: Glutamine synthetase regulates the immune microenvironment
            and cancer development through the inflammatory pathway. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 7554)
  AUTHORS   Wang Y, Kudoh J, Kubota R, Asakawa S, Minoshima S and Shimizu N.
  TITLE     Chromosomal mapping of a family of human glutamine synthetase genes:
            functional gene (GLUL) on 1q25, pseudogene (GLULP) on 9p13, and
            three related genes (GLULL1, GLULL2, GLULL3) on 5q33, 11p15, and
            11q24
  JOURNAL   Genomics 37 (2), 195-199 (1996)
   PUBMED   8921392
REFERENCE   6  (bases 1 to 7554)
  AUTHORS   Schraml P, Shipman R, Colombi M and Ludwig CU.
  TITLE     Identification of genes differentially expressed in normal lung and
            non-small cell lung carcinoma tissue
  JOURNAL   Cancer Res 54 (19), 5236-5240 (1994)
   PUBMED   7923146
REFERENCE   7  (bases 1 to 7554)
  AUTHORS   Christa L, Simon MT, Flinois JP, Gebhardt R, Brechot C and Lasserre
            C.
  TITLE     Overexpression of glutamine synthetase in human primary liver cancer
  JOURNAL   Gastroenterology 106 (5), 1312-1320 (1994)
   PUBMED   7909780
REFERENCE   8  (bases 1 to 7554)
  AUTHORS   Van den Hoff MJ, Geerts WJ, Das AT, Moorman AF and Lamers WH.
  TITLE     cDNA sequence of the long mRNA for human glutamine synthase
  JOURNAL   Biochim Biophys Acta 1090 (2), 249-251 (1991)
   PUBMED   1681907
REFERENCE   9  (bases 1 to 7554)
  AUTHORS   Gibbs,C.S., Campbell,K.E. and Wilson,R.H.
  TITLE     Sequence of a human glutamine synthetase cDNA
  JOURNAL   Nucleic Acids Res 15 (15), 6293 (1987)
   PUBMED   2888076
REFERENCE   10  (bases 1 to 7554)
  AUTHORS   Rivett,A.J.
  TITLE     Preferential degradation of the oxidatively modified form of
            glutamine synthetase by intracellular mammalian proteases
  JOURNAL   J Biol Chem 260 (1), 300-305 (1985)
   PUBMED   2856920
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX537384.1, SRR11853563.2472.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000331872.11/ ENSP00000356537.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA151535.1, BC011852.2,
            AI147221.1, BM690132.1, AL139344.24, AW665656.1, DA322310.1,
            BQ637044.1, DB317032.1, AW954632.1, CD300750.1, BI668874.1,
            BF923451.1 and AI286093.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001033044.3.
            Summary: The protein encoded by this gene belongs to the glutamine
            synthetase family. It catalyzes the synthesis of glutamine from
            glutamate and ammonia in an ATP-dependent reaction. This protein
            plays a role in ammonia and glutamate detoxification, acid-base
            homeostasis, cell signaling, and cell proliferation. Glutamine is
            an abundant amino acid, and is important to the biosynthesis of
            several amino acids, pyrimidines, and purines. Mutations in this
            gene are associated with congenital glutamine deficiency, and
            overexpression of this gene was observed in some primary liver
            cancer samples. There are six pseudogenes of this gene found on
            chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Dec 2014].
            Transcript Variant: This variant (2) lacks an exon in the 5' UTR
            compared to variant 1. Both variants 1, 2 and 3 encode the same
            protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7554
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.3"
     gene            1..7554
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
                     /note="glutamate-ammonia ligase"
                     /db_xref="GeneID:2752"
                     /db_xref="HGNC:HGNC:4341"
                     /db_xref="MIM:138290"
     misc_feature    81..83
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
                     /note="upstream in-frame stop codon"
     CDS             126..1247
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
                     /EC_number="6.3.1.2"
                     /EC_number="2.3.1.225"
                     /note="glutamine synthase; proliferation-inducing protein
                     43; palmitoyltransferase GLUL; cell proliferation-inducing
                     protein 59; glutamate decarboxylase"
                     /codon_start=1
                     /product="glutamine synthetase"
                     /protein_id="NP_001028216.1"
                     /db_xref="CCDS:CCDS1344.1"
                     /db_xref="GeneID:2752"
                     /db_xref="HGNC:HGNC:4341"
                     /db_xref="MIM:138290"
                     /translation="MTTSASSHLNKGIKQVYMSLPQGEKVQAMYIWIDGTGEGLRCKTR
                     TLDSEPKCVEELPEWNFDGSSTLQSEGSNSDMYLVPAAMFRDPFRKDPNKLVLCEVFKY
                     NRRPAETNLRHTCKRIMDMVSNQHPWFGMEQEYTLMGTDGHPFGWPSNGFPGPQGPYYC
                     GVGADRAYGRDIVEAHYRACLYAGVKIAGTNAEVMPAQWEFQIGPCEGISMGDHLWVAR
                     FILHRVCEDFGVIATFDPKPIPGNWNGAGCHTNFSTKAMREENGLKYIEEAIEKLSKRH
                     QYHIRAYDPKGGLDNARRLTGFHETSNINDFSAGVANRSASIRIPRTVGQEKKGYFEDR
                     RPSANCDPFSVTEALIRTCLLNETGDEPFQYKN"
     misc_feature    129..131
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
                     /note="N-acetylthreonine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (P15104.4); acetylation site"
     misc_feature    435..437
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:P15105; propagated from
                     UniProtKB/Swiss-Prot (P15104.4); phosphorylation site"
     misc_feature    1152..1154
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P15104.4); phosphorylation site"
     regulatory      2737..2742
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
                     /note="hexamer: TATAAA"
     polyA_site      2758
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
                     /note="major polyA site"
     regulatory      2801..2806
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
                     /note="hexamer: ATTATA"
     polyA_site      2842
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
     polyA_site      3854
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
     regulatory      3923..3928
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
                     /note="hexamer: ACTAAA"
     polyA_site      3948
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
     regulatory      4196..4201
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
                     /note="hexamer: AATAAT"
     polyA_site      4215
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
     regulatory      6417..6422
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
                     /note="hexamer: AACAAA"
     polyA_site      6434
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
     regulatory      7536..7541
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
                     /note="hexamer: AATAAA"
     polyA_site      7554
                     /gene="GLUL"
                     /gene_synonym="GLNS; GS; PIG43; PIG59"
ORIGIN
        1 agagtcgaga gtgggagaag agcggagcgt gtgagcagta ctgcggcctc ctctcctctc
       61 ctaacctcgc tctcgcggcc tagctttacc cgcccgcctg ctcggcgacc agaacacctt
      121 ccaccatgac cacctcagca agttcccact taaataaagg catcaagcag gtgtacatgt
      181 ccctgcctca gggtgagaaa gtccaggcca tgtatatctg gatcgatggt actggagaag
      241 gactgcgctg caagacccgg accctggaca gtgagcccaa gtgtgtggaa gagttgcctg
      301 agtggaattt cgatggctct agtactttac agtctgaggg ttccaacagt gacatgtatc
      361 tcgtgcctgc tgccatgttt cgggacccct tccgtaagga ccctaacaag ctggtgttat
      421 gtgaagtttt caagtacaat cgaaggcctg cagagaccaa tttgaggcac acctgtaaac
      481 ggataatgga catggtgagc aaccagcacc cctggtttgg catggagcag gagtataccc
      541 tcatggggac agatgggcac ccctttggtt ggccttccaa cggcttccca gggccccagg
      601 gtccatatta ctgtggtgtg ggagcagaca gagcctatgg cagggacatc gtggaggccc
      661 attaccgggc ctgcttgtat gctggagtca agattgcggg gactaatgcc gaggtcatgc
      721 ctgcccagtg ggaatttcag attggacctt gtgaaggaat cagcatggga gatcatctct
      781 gggtggcccg tttcatcttg catcgtgtgt gtgaagactt tggagtgata gcaacctttg
      841 atcctaagcc cattcctggg aactggaatg gtgcaggctg ccataccaac ttcagcacca
      901 aggccatgcg ggaggagaat ggtctgaagt acatcgagga ggccattgag aaactaagca
      961 agcggcacca gtaccacatc cgtgcctatg atcccaaggg aggcctggac aatgcccgac
     1021 gtctaactgg attccatgaa acctccaaca tcaacgactt ttctgctggt gtagccaatc
     1081 gtagcgccag catacgcatt ccccggactg ttggccagga gaagaagggt tactttgaag
     1141 atcgtcgccc ctctgccaac tgcgacccct tttcggtgac agaagccctc atccgcacgt
     1201 gtcttctcaa tgaaaccggc gatgagccct tccagtacaa aaattaagtg gactagacct
     1261 ccagctgttg agcccctcct agttcttcat cccactccaa ctcttccccc tctcccagtt
     1321 gtcccgattg taactcaaag ggtggaatat caaggtcgtt tttttcattc catgtgccca
     1381 gttaatcttg ctttctttgt ttggctggga tagaggggtc aagttattaa tttcttcaca
     1441 cctaccctcc tttttttccc tatcactgaa gctttttagt gcattagtgg ggaggagggt
     1501 ggggagacat aaccactgct tccatttaat ggggtgcacc tgtccaatag gcgtagctat
     1561 ccggacagag cacgtttgca gaagggggtc tcttcttcca ggtagctgaa aggggaagac
     1621 ctgacgtact ctggttaggt taggacttgc cctcgtggtg gaaacttttc ttaaaaagtt
     1681 ataaccaact tttctattaa aagtgggaat taggagagaa ggtaggggtt gggaatcaga
     1741 gagaatggct ttggtctctt gcttgtggga ctagcctggc ttgggactaa atgccctgct
     1801 ctgaacacga agcttagtat aaactgatgg atatccctac cttgaaagaa gaaaaggttc
     1861 ttactgcttg gtccttgatt tatcacacaa agcagaatag tatttttata tttaaatgta
     1921 aagacaaaaa actatatgta tggttttgtg gattatgtgt gttttgctaa aggaaaaaac
     1981 catccaggtc acggggcacc aaatttgaga caaatagtcg gattagaaat aaagcatctc
     2041 attttgagta gagagcaagg gaagtggttc ttagatggtg atctgggatt aggccctcaa
     2101 gacccttttg ggtttctgcc ctgcccaccc tctggagaag gtgggcactg gattagttaa
     2161 cagacaacac gttactagca gtcacttgat ctccgtggct ttggtttaaa agacacactt
     2221 gtccacatag gtttagagat aagagttggc tggtcaactt gagcatgtta ctgacagagg
     2281 gggtattggg gttattttct ggtaggaata gcatgtcact aaagcaggcc ttttgatatt
     2341 aaatttttta aaaagcaaaa ttatagaagt ttagatttta atcaaatttg tagggtttct
     2401 aggtaatttt tacagaattg cttgtttgct tcaactgtct cctacctctg ctcttggagg
     2461 agatggggac agggctggag tcaaaacact tgtaattttg tatcttgatg tctttgttaa
     2521 gactgctgaa gaattatttt ttttctttta taataaggaa taaaccccac ctttattcct
     2581 tcatttcatc taccattttc tggttcttgt gttggctgtg gcaggccagc tgtggttttc
     2641 ttttgccatg acaacttcta attgccatgt acagtatgtt caaagtcaaa taactcctca
     2701 ttgtaaacaa actgtgtaac tgcccaaagc agcacttata aatcagccta acataagatc
     2761 tctctgatgt gtttgtgatt ctttcaaatc cctatgtgcc attatatttc tttatttcct
     2821 aaaacaggca aaataagctc aagtttatgt actctgagtt tttaaaacac tggagtgatg
     2881 ttgctgacca gccgtttcct gtacctctct aagttgggta tttgggactt aagggattaa
     2941 gtttttcacc tagacttagt tacacacaat cttggcattt cctagcctag aggtttgtag
     3001 cagggtacaa gccccactcc tcccccttcc tttgctcccc tgagtttggt tttggcttac
     3061 cataacattg ttttgaccat tcctagccta atacaatagc ctaacataat gtaagattaa
     3121 ctggctttac gatttctatt ctctgctctc agtgataaga aacaaatatt agctaccctg
     3181 ctaccctggt tgaagccttc caaggctggc tatgccctag gcatgggctc atccttgggt
     3241 gtatcttgcc ttgcaggaag accagtggac cgattgtgat tctcaaaagc tctgtgttgt
     3301 cacctgtgcc cttgcccctt gctcttatct tggtccgtgt atctgggagt tcttccacct
     3361 tatcttggcc aattcctacc ttcgttcatt cctcatgagg ttgggtaaaa gctccctccg
     3421 gctcccatga tgctgtgcat atacctagca aaaagcaatt attggacaca ttggagtgca
     3481 atattattaa tagcattaat actactaata atgtgggcaa tagtgattgt ttttaaaagg
     3541 cagtatactc ttaccagtgc gaggtagctg gggcctgtga tagtttttag agataagttc
     3601 ttcaggcaac tgtgtatttt acactagtca agtaatccta gatatccgtg gtttttctta
     3661 agaaagttgg ctcgtaatat gatttaatat tcaaagtaga gtcatctacc tattagcttg
     3721 ctggcgtggt cctagtttat gcctgtttca gcatgattgt tgagtaccct gtttcatcct
     3781 tagcattttc ttgattttgt tgttaaatga tgtataccct tatttccatt gaatctgtgc
     3841 ttccaccccc ccaactgaag ttgtcttccc tttgcttggc cacccttaca gcctcttgga
     3901 tggtgtatcc tacagtgtaa gcactaaact gaagaggcag tgacctgagc actttggatt
     3961 ttgttcattg taatcaattc catgacaaaa tgattgcatg agaaggaatt ttaaattcat
     4021 aggatcagaa tttaggtgaa aacaaccagc atatttgttt cttcaccctc tcacctagaa
     4081 ttagctttga cctacaggtc acagtgcaat ccccttgtat ttctaaggtg ttttttatag
     4141 ttcatttgca gacaatgggt tatgtgataa cttttatcag tgatagatta aacagaataa
     4201 tgaccaagct ttcaacctta aggagtcagg ccagtattta caaaaggagg tctccatgaa
     4261 ctccttaaat atgagttccc ctaatatcat cttgccaggt actaaataac aactgatagc
     4321 acaagctata gggaatttga aagaattcca tggatgggtg ttgtctaggg ccttttgttg
     4381 tttttgagac ggggtctgac tctcacccag gctggagtat agtgtggcgc aatcttggct
     4441 cactgcaact tctgcctccc agattcaagc gattctcctg cctcagcctc ccaagtagct
     4501 gagactacag gtgtgcacca ccatgctcag ctaatttttg tatttttagt acagatgggg
     4561 tttcaccatg ttggccaggc tggtcttgaa ctcctgatct cccaaagtga ggtcttgaac
     4621 tggtcttgaa ctcctccacc tcccaaagtg ctgggattac aggcgtgagc cactgcaccc
     4681 ggcctagggc catgtaaaaa gccagatctg tgctgctgtc tgtgtagaag ggtagacaag
     4741 tggatgagaa gttcctgaac tattcttggc ccttttacca ctaagtgaaa gtaacttgct
     4801 gccccaaaga aagatgtctc atcattcgac aggactttct agttgaactt catgaaagca
     4861 agagatcctg tttttcttgc tcaccactgt atcttgagac ctgttgtagt gcctgcaata
     4921 cttatttaat aagttatttt taagtatcag ttttgtgagc tttaactcta tgaggtcttt
     4981 gttgtttgac tgtattttaa ctctggccat gacagcaaga caaagttcca tttttattga
     5041 gcttaaaaag aatcaaggcc aggtgaagtg gcttacgcct gtgatcccaa cactttgtga
     5101 ggctgcagca ggaggatctc ttgagcccag gagtttgaga ccgttctagg caatgtagtg
     5161 aggtccagac tccacaaaat aatttttttt taaattgcac gcctgtagtc tcagctatca
     5221 ggaggctgag atgggaggat gacttgagcc caggaaattg aagctgcagt gaattgtgat
     5281 tgcaccactg cactccagcc tgggtgacag atcaagacct tgcctaaaca aaacaaaaca
     5341 aacaaaaccc caaaaaacaa attgaaaatg ttgattcttt ttactacaaa cattatggca
     5401 gcactaaaaa cttcgtggga gtgtactgtg gaaaatagtg tacttaatta attctcattg
     5461 taatcaggct accaagagcc ttgtgttgct ttaagagtta taactgccag gcacagtggc
     5521 tcatgcctat aatcccagca ccttgagagg ccgaggcagg tggatcacct gagatcggga
     5581 gtttgagacc agccgggcca atatggtgaa acaagctgtg tctctactaa atacaaaaaa
     5641 ttagccgggc gtggtggcac atgcctgtaa tcccagctgc ttgggagact gagacaggag
     5701 aattgcttga acctggaagg cggaggttgc agtgagctga gattgcaaca ttgtactcca
     5761 gcctgggcaa caagagggaa actccatctc aaaaaaaaaa aaaaagttgt aactgaggct
     5821 gggcatggtg gctcatacct gtaatcccag cactttgaaa agccgaggca ggtagatcac
     5881 ttgagctcag aagttcgaga ctagcctggg caacatgaca aaaccccatc tctacaaaaa
     5941 atacgaaaaa ttagctgggc gtggtggcat gcacctgtag tcctagctac ctgggaggct
     6001 gaggtgggaa gattacttga agctgcagtg agccatggtt gtgccactgc cctccagtct
     6061 gggcaacaaa gtgagaccct gtctcaaaaa aacaaaaaaa aattataact gatgtaaact
     6121 ggcagtttag gctgggtgtg gtggctcaag cctgtaatcc tagcactttg ggaggccaag
     6181 gcaggtggat cacctgagtt caggagttcg agaccagcgt ggccaacatg gtgaaacctt
     6241 gtctctatta aaaataccaa aattagcaag atgtggtggt gggtgcctat aattccagct
     6301 actcaggagg ctgaggcagg aggatcgctg gagccaggga ggcagaggtt acagtaagca
     6361 aagatcactc cacttcactc cagcctgggc aaaagagtga gacatatcaa aaaataaaca
     6421 aataaataaa taaataagtg gcagttcatc atttaactcc aaagactttg cgtacatttc
     6481 tactgaaaac aatctgagct gattagaacc ctgccatttt atagccttta gctcgatctc
     6541 cgaccgttca tttaaaaaaa ttctacttca ggccgggcat ggtggctcaa gcctgtaatc
     6601 ccatcactgt aggaggccaa agtgggcaga tcacttaagg tcaggagttt gagaccagcc
     6661 tggccaccat ggtgaaaccc catctctact aaaaatacaa aaattagccg ggcttggtgg
     6721 tgagcacctg taatcccacc ctgccgagtg gcaggctgag gcaggagaat cgcttgagcc
     6781 caagagccgg aggttgcagt gagccaagct tgcaccattg cactccagcc taggcaacag
     6841 agtgtgactc catctcaaga aaaaaaaaat tctatttcat tttacaatat gcagatatat
     6901 gtccatacac atgcataata taaatgtata ccatatttgt gagaatatgc atatatgtac
     6961 acattagata cacaatacaa gcacaataca tatgtctttt gcccaagata cagcattttg
     7021 taaaggagac aggaatttag taatatatgt tccagaaaca gtacacaaga gaattcgccg
     7081 agatgagaaa gttgtcacta ggaatgggga gtggtaagat gtagaaggta taattgttct
     7141 taaagttcta ctgccaactc tttccaatta attacccact ctgccatgct ttatggacag
     7201 gaggttgtcg gacactgtca attaataaat atttgagcat gatacactgc ttggagctcc
     7261 tctaatatag gagagtgata tcctagtgca tgttacagag ggagtgtcca cacagttcct
     7321 attgtcattt gatgagttac ttttcagggg ccttgtacct gagcaagttg tcctcttttt
     7381 gatggatttc agattgagtt acctgcattg tcttgagatt gcagcgtgtt tcctccactg
     7441 tacggcgtag tcagcagatc tattagttaa actccagtgg gccctcagtc actaaatcta
     7501 tcctctgtgt tgaaggcttt ctgcatttgc ctttcaataa aggtttagaa taac
//
LOCUS       NM_001033046            2073 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens cytochrome b-245 chaperone 1 (CYBC1), transcript
            variant 2, mRNA.
ACCESSION   NM_001033046
VERSION     NM_001033046.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2073)
  AUTHORS   Perez-Heras I, Tsilifis C, Slatter MA, Brynjolfsson SF, Haraldsson A
            and Gennery AR.
  TITLE     HSCT in two brothers with CGD arising from mutations in CYBC1
            corrects the defect in neutrophil function
  JOURNAL   Clin Immunol 229, 108799 (2021)
   PUBMED   34280579
  REMARK    GeneRIF: HSCT in two brothers with CGD arising from mutations in
            CYBC1 corrects the defect in neutrophil function.
REFERENCE   2  (bases 1 to 2073)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2073)
  AUTHORS   Ryoden Y, Fujii T, Segawa K and Nagata S.
  TITLE     Functional Expression of the P2X7 ATP Receptor Requires Eros
  JOURNAL   J Immunol 204 (3), 559-568 (2020)
   PUBMED   31862710
  REMARK    GeneRIF: these results indicated that Eros acts as a chaperone not
            only for NADPH oxidase, but also for P2X7, and contributes to the
            innate immune reaction
REFERENCE   4  (bases 1 to 2073)
  AUTHORS   Thomas DC, Charbonnier LM, Schejtman A, Aldhekri H, Coomber EL,
            Dufficy ER, Beenken AE, Lee JC, Clare S, Speak AO, Thrasher AJ,
            Santilli G, Al-Mousa H, Alkuraya FS, Chatila TA and Smith KGC.
  TITLE     EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic
            granulomatous disease
  JOURNAL   J Allergy Clin Immunol 143 (2), 782-785 (2019)
   PUBMED   30312704
  REMARK    GeneRIF: this study shows that the function of EROS is fully
            conserved between human and mouse, and that homozygous mutations in
            EROS underlie a novel sixth cause of chronic granulomatous disease
REFERENCE   5  (bases 1 to 2073)
  AUTHORS   Arnadottir GA, Norddahl GL, Gudmundsdottir S, Agustsdottir AB,
            Sigurdsson S, Jensson BO, Bjarnadottir K, Theodors F, Benonisdottir
            S, Ivarsdottir EV, Oddsson A, Kristjansson RP, Sulem G,
            Alexandersson KF, Juliusdottir T, Gudmundsson KR, Saemundsdottir J,
            Jonasdottir A, Jonasdottir A, Sigurdsson A, Manzanillo P, Gudjonsson
            SA, Thorisson GA, Magnusson OT, Masson G, Orvar KB, Holm H,
            Bjornsson S, Arngrimsson R, Gudbjartsson DF, Thorsteinsdottir U,
            Jonsdottir I, Haraldsson A, Sulem P and Stefansson K.
  TITLE     A homozygous loss-of-function mutation leading to CYBC1 deficiency
            causes chronic granulomatous disease
  JOURNAL   Nat Commun 9 (1), 4447 (2018)
   PUBMED   30361506
  REMARK    GeneRIF: CYBC1 deficiency results in chronic granulomatous disease
            characterized by colitis and a distinct profile of infections
            indicative of macrophage dysfunction. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 2073)
  AUTHORS   Skibola CF, Berndt SI, Vijai J, Conde L, Wang Z, Yeager M, de Bakker
            PI, Birmann BM, Vajdic CM, Foo JN, Bracci PM, Vermeulen RC, Slager
            SL, de Sanjose S, Wang SS, Linet MS, Salles G, Lan Q, Severi G,
            Hjalgrim H, Lightfoot T, Melbye M, Gu J, Ghesquieres H, Link BK,
            Morton LM, Holly EA, Smith A, Tinker LF, Teras LR, Kricker A, Becker
            N, Purdue MP, Spinelli JJ, Zhang Y, Giles GG, Vineis P, Monnereau A,
            Bertrand KA, Albanes D, Zeleniuch-Jacquotte A, Gabbas A, Chung CC,
            Burdett L, Hutchinson A, Lawrence C, Montalvan R, Liang L, Huang J,
            Ma B, Liu J, Adami HO, Glimelius B, Ye Y, Nowakowski GS, Dogan A,
            Thompson CA, Habermann TM, Novak AJ, Liebow M, Witzig TE, Weiner GJ,
            Schenk M, Hartge P, De Roos AJ, Cozen W, Zhi D, Akers NK, Riby J,
            Smith MT, Lacher M, Villano DJ, Maria A, Roman E, Kane E, Jackson
            RD, North KE, Diver WR, Turner J, Armstrong BK, Benavente Y,
            Boffetta P, Brennan P, Foretova L, Maynadie M, Staines A, McKay J,
            Brooks-Wilson AR, Zheng T, Holford TR, Chamosa S, Kaaks R, Kelly RS,
            Ohlsson B, Travis RC, Weiderpass E, Clavel J, Giovannucci E, Kraft
            P, Virtamo J, Mazza P, Cocco P, Ennas MG, Chiu BC, Fraumeni JF Jr,
            Nieters A, Offit K, Wu X, Cerhan JR, Smedby KE, Chanock SJ and
            Rothman N.
  TITLE     Genome-wide association study identifies five susceptibility loci
            for follicular lymphoma outside the HLA region
  JOURNAL   Am J Hum Genet 95 (4), 462-471 (2014)
   PUBMED   25279986
REFERENCE   7  (bases 1 to 2073)
  AUTHORS   Deng X, Zhao HS, Peng Z, Deng WW, Li N, Guo S and Shi TP.
  TITLE     [Study on the mechanism of C17orf62 induced cell death]
  JOURNAL   Beijing Da Xue Xue Bao Yi Xue Ban 43 (2), 168-172 (2011)
   PUBMED   21503106
REFERENCE   8  (bases 1 to 2073)
  AUTHORS   Miyamoto-Sato E, Fujimori S, Ishizaka M, Hirai N, Masuoka K, Saito
            R, Ozawa Y, Hino K, Washio T, Tomita M, Yamashita T, Oshikubo T,
            Akasaka H, Sugiyama J, Matsumoto Y and Yanagawa H.
  TITLE     A comprehensive resource of interacting protein regions for refining
            human transcription factor networks
  JOURNAL   PLoS One 5 (2), e9289 (2010)
   PUBMED   20195357
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2073)
  AUTHORS   Imabayashi H, Mori T, Gojo S, Kiyono T, Sugiyama T, Irie R, Isogai
            T, Hata J, Toyama Y and Umezawa A.
  TITLE     Redifferentiation of dedifferentiated chondrocytes and
            chondrogenesis of human bone marrow stromal cells via chondrosphere
            formation with expression profiling by large-scale cDNA analysis
  JOURNAL   Exp Cell Res 288 (1), 35-50 (2003)
   PUBMED   12878157
REFERENCE   10  (bases 1 to 2073)
  AUTHORS   Leiding,J.W. and Holland,S.M.
  TITLE     Chronic Granulomatous Disease
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   22876374
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.1259613.1, BC004171.2
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000306645.10/ ENSP00000307765.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA342707.1, BC004171.2 and BU734211.1.
            On Nov 22, 2018 this sequence version replaced NM_001033046.3.
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1, 4, 5, 6, and 7 all encode
            isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2073
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..2073
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /note="cytochrome b-245 chaperone 1"
                     /db_xref="GeneID:79415"
                     /db_xref="HGNC:HGNC:28672"
                     /db_xref="MIM:618334"
     CDS             92..655
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /note="isoform a is encoded by transcript variant 2;
                     uncharacterized protein C17orf62; essential for reactive
                     oxygen species protein"
                     /codon_start=1
                     /product="cytochrome b-245 chaperone 1 isoform a"
                     /protein_id="NP_001028218.1"
                     /db_xref="CCDS:CCDS32776.1"
                     /db_xref="GeneID:79415"
                     /db_xref="HGNC:HGNC:28672"
                     /db_xref="MIM:618334"
                     /translation="MYLQVETRTSSRLHLKRAPGIRSWSLLVGILSIGLAAAYYSGDSL
                     GWKLFYVTGCLFVAVQNLEDWEEAIFDKSTGKVVLKTFSLYKKLLTLFRAGHDQVVVLL
                     HDVRDVSVEEEKVRYFGKGYMVVLRLATGFSHPLTQSAVMGHRSDVEAIAKLITSFLEL
                     HCLESPTELSQSSDSEAGDPASQS"
     misc_feature    149..217
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQA9.1);
                     transmembrane region"
     misc_feature    593..595
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6AYA6; propagated from
                     UniProtKB/Swiss-Prot (Q9BQA9.1); phosphorylation site"
     regulatory      1994..1999
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /note="hexamer: CATAAA"
     polyA_site      2016
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
                     /note="major polyA site"
     polyA_site      2073
                     /gene="CYBC1"
                     /gene_synonym="C17orf62; CGD5; Eros"
ORIGIN
        1 gcccccgccg gttcgcgtct ctctgctgcg gcgcggggac cgctgtgctc tcgacccctc
       61 ctcctgtaga gagtggtgct gccctctcgg gatgtacctg caggtggaga cccgcaccag
      121 ctcccgcctc catctgaaga gggctccagg catccggtcc tggtccctgc tggttggaat
      181 cttgtcgatt ggcctggctg ctgcctacta cagcggagat agcctgggct ggaagctctt
      241 ctacgtcaca ggctgcctgt ttgtggctgt gcagaacttg gaggactggg aggaagccat
      301 cttcgacaag agcacaggga aggttgtttt gaagacgttc agcctctaca agaagctgct
      361 gactcttttc agagctggcc acgaccaggt ggtggtcctg ctccatgatg tccgtgatgt
      421 gagcgtggag gaggagaagg tccggtactt cgggaaaggc tacatggtgg tgctccggct
      481 tgcgacgggc ttctcccacc ccctcacgca gagtgcagtc atgggccacc gcagtgatgt
      541 ggaagccatc gccaagctca tcaccagctt cctggagctg cactgccttg agagccccac
      601 agagctgtct cagagcagcg acagtgaggc cggtgaccct gcaagccaga gctgacagcc
      661 ccactgtgcc tgagcccgtg caccgcccac aggacccatg gcacattccc ggtgtgcctg
      721 agcccgtgca ccgcccacag gacccgtggc acattcccgg tgtgcctgag cccgtgcacc
      781 gcccacagga cccgtggcac attcccggtg tgcctgagcc cgtgcaccgc ccacaggacc
      841 cgtggcacat tcccggtgtg cctgagcccg tgcaccgccc acaggacccg tggccttggc
      901 ttcagttggt gcctccagcc gagttggcct attgcctgct catgctgctg cttgcacact
      961 gcatgaaaca gcaggccaga ccaggacatc cagactttct ccatcgtgag gcctgggcct
     1021 gcctttctgc agccggaggt ctcgccagcc ctggactcct gctttgggcc acagcaagac
     1081 ctcgggcgag tggagaggcg gggccaggcc gggcccttgt gggtgctgat gctgcatgtt
     1141 gtccccgaca cagcgtcctc tccctggtgg acatccccag cggtcaggtg cttccccaag
     1201 ggcagtgagg ggtgaacatc cagggcctac ctggctgtgc acgctgcagc cacactgtgg
     1261 aagctgcccc tccccgagga cccgcctccc ttgctgatgc caggatctcg gcgcatagac
     1321 cactctgccc cagcggtcgt cacagaaagg tctctctgtt cctcacactc agcttcagca
     1381 taagctgtga ggccagaaaa aaggtcagct cttctagtat cgtgcagtgc ttaaaaaccg
     1441 ggagctccag ccgggcgcag tggttcatgc cagtaatccc agcactttcg gaggccgagg
     1501 tgggaggatt gcttgaggcc aggagttcaa gaccagcctg ggcaacacag caagatcctg
     1561 tctttgtaaa aaaactaacc aaacaggaaa aactgggaga ttttctgcag aaattgagtt
     1621 ccagcctctc tcgaacctgg gaagacctgg caggaggggg ctgggctctc ggctacagac
     1681 ttctccccac cccgtaggag ctgaacgcca accatcctga cccgccagtg ctcttggtct
     1741 cctgagtgta cccaggtcct cccaggtgcg gtgtgcaccg agcgcgcctg gcctgatgcc
     1801 ctggcctgtg agctggggac tcctgggccc tgtgagcccc taggcggcag gcccaggaat
     1861 ggctgggtag gacagggaac acctttgccc cacgtctggc tgtgacctcg gtgaaagccg
     1921 acaggagaga gatgggaccc tcctcctcag tagtggctgc cagtccctcg ttgcaggaca
     1981 gggtcatcat aaccataaat aacccttcac gtgtcacctg cagcttccac tctttatttc
     2041 caaagaatca gtgtcacaca tgcagatcac aaa
//
LOCUS       NM_001033047            4561 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens nephronectin (NPNT), transcript variant 2, mRNA.
ACCESSION   NM_001033047
VERSION     NM_001033047.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4561)
  AUTHORS   Wang P, Zhang Y, Lv X, Zhou J, Cang S and Song Y.
  TITLE     LncRNA ADAMTS9-AS1 inhibits the stemness of lung adenocarcinoma
            cells by regulating miR-5009-3p/NPNT axis
  JOURNAL   Genomics 115 (3), 110596 (2023)
   PUBMED   36870548
  REMARK    GeneRIF: LncRNA ADAMTS9-AS1 inhibits the stemness of lung
            adenocarcinoma cells by regulating miR-5009-3p/NPNT axis.
REFERENCE   2  (bases 1 to 4561)
  AUTHORS   Al-Hamed MH, Sayer JA, Alsahan N, Edwards N, Ali W, Tulbah M and
            Imtiaz F.
  TITLE     Missense Variants in GFRA1 and NPNT Are Associated with Congenital
            Anomalies of the Kidney and Urinary Tract
  JOURNAL   Genes (Basel) 13 (10), 1687 (2022)
   PUBMED   36292572
  REMARK    GeneRIF: Missense Variants in <i>GFRA1</i> and <i>NPNT</i> Are
            Associated with Congenital Anomalies of the Kidney and Urinary
            Tract. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4561)
  AUTHORS   Al-Hamed MH, Altuwaijri N, Alsahan N, Ali W, Abdulwahab F, Alzahrani
            F, Majrashi N and Alkuraya FS.
  TITLE     A null founder variant in NPNT, encoding nephronectin, causes
            autosomal recessive renal agenesis
  JOURNAL   Clin Genet 102 (1), 61-65 (2022)
   PUBMED   35246978
  REMARK    GeneRIF: A null founder variant in NPNT, encoding nephronectin,
            causes autosomal recessive renal agenesis.
REFERENCE   4  (bases 1 to 4561)
  AUTHORS   Huang L, Guan S, Feng L, Wei J and Wu L.
  TITLE     Integrated analysis identified NPNT as a potential key regulator in
            tumor metastasis of hepatocellular carcinoma
  JOURNAL   Gene 825, 146436 (2022)
   PUBMED   35304239
  REMARK    GeneRIF: Integrated analysis identified NPNT as a potential key
            regulator in tumor metastasis of hepatocellular carcinoma.
REFERENCE   5  (bases 1 to 4561)
  AUTHORS   Muller-Deile J, Sopel N, Ohs A, Rose V, Groner M, Wrede C, Hegermann
            J, Daniel C, Amann K, Zahner G and Schiffer M.
  TITLE     Glomerular Endothelial Cell-Derived microRNA-192 Regulates
            Nephronectin Expression in Idiopathic Membranous Glomerulonephritis
  JOURNAL   J Am Soc Nephrol 32 (11), 2777-2794 (2021)
   PUBMED   34716242
  REMARK    GeneRIF: Glomerular Endothelial Cell-Derived microRNA-192 Regulates
            Nephronectin Expression in Idiopathic Membranous Glomerulonephritis.
REFERENCE   6  (bases 1 to 4561)
  AUTHORS   Kahai S, Lee SC, Lee DY, Yang J, Li M, Wang CH, Jiang Z, Zhang Y,
            Peng C and Yang BB.
  TITLE     MicroRNA miR-378 regulates nephronectin expression modulating
            osteoblast differentiation by targeting GalNT-7
  JOURNAL   PLoS One 4 (10), e7535 (2009)
   PUBMED   19844573
  REMARK    GeneRIF: MicroRNA miR-378 regulates nephronectin expression
            modulating osteoblast differentiation by targeting GalNT-7
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 4561)
  AUTHORS   Gonzalez-Begne M, Lu B, Han X, Hagen FK, Hand AR, Melvin JE and
            Yates JR.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   8  (bases 1 to 4561)
  AUTHORS   Huang JT and Lee V.
  TITLE     Identification and characterization of a novel human nephronectin
            gene in silico
  JOURNAL   Int J Mol Med 15 (4), 719-724 (2005)
   PUBMED   15754038
REFERENCE   9  (bases 1 to 4561)
  AUTHORS   Brandenberger R, Schmidt A, Linton J, Wang D, Backus C, Denda S,
            Muller U and Reichardt LF.
  TITLE     Identification and characterization of a novel extracellular matrix
            protein nephronectin that is associated with integrin alpha8beta1 in
            the embryonic kidney
  JOURNAL   J Cell Biol 154 (2), 447-458 (2001)
   PUBMED   11470831
REFERENCE   10  (bases 1 to 4561)
  AUTHORS   Miner JH.
  TITLE     Mystery solved: discovery of a novel integrin ligand in the
            developing kidney
  JOURNAL   J Cell Biol 154 (2), 257-259 (2001)
   PUBMED   11470814
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.42703.1,
            SRR1660807.41618.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379987.7/ ENSP00000369323.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK295772.1, AK290029.1, AW607534.1 and AC109361.4.
            On Jun 2, 2019 this sequence version replaced NM_001033047.2.
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            5' coding region, compared to variant 1, and encodes a shorter
            protein (isoform B), compared to isoform A. This variant is also
            known as isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4561
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q24"
     gene            1..4561
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /note="nephronectin"
                     /db_xref="GeneID:255743"
                     /db_xref="HGNC:HGNC:27405"
                     /db_xref="MIM:610306"
     CDS             183..1880
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /note="isoform B precursor is encoded by transcript variant
                     2; preosteoblast EGF-like repeat protein with MAM domain"
                     /codon_start=1
                     /product="nephronectin isoform B precursor"
                     /protein_id="NP_001028219.1"
                     /db_xref="CCDS:CCDS34046.1"
                     /db_xref="GeneID:255743"
                     /db_xref="HGNC:HGNC:27405"
                     /db_xref="MIM:610306"
                     /translation="MDFLLALVLVSSLYLQAAAEFDGRWPRQIVSSIGLCRYGGRIDCC
                     WGWARQSWGQCQPVCQPRCKHGECIGPNKCKCHPGYAGKTCNQDLNECGLKPRPCKHRC
                     MNTYGSYKCYCLNGYMLMPDGSCSSALTCSMANCQYGCDVVKGQIRCQCPSPGLQLAPD
                     GRTCVDVDECATGRASCPRFRQCVNTFGSYICKCHKGFDLMYIGGKYQCHDIDECSLGQ
                     YQCSSFARCYNIRGSYKCKCKEGYQGDGLTCVYIPKVMIEPSGPIHVPKGNGTILKGDT
                     GNNNWIPDVGSTWWPPKTPYIPPIITNRPTSKPTTRPTPKPTPIPTPPPPPPLPTELRT
                     PLPPTTPERPTTGLTTIAPAASTPPGGITVDNRVQTDPQKPRGDVFIPRQPSNDLFEIF
                     EIERGVSADDEAKDDPGVLVHSCNFDHGLCGWIREKDNDLHWEPIRDPAGGQYLTVSAA
                     KAPGGKAARLVLPLGRLMHSGDLCLSFRHKVTGLHSGTLQVFVRKHGAHGAALWGRNGG
                     HGWRQTQITLRGADIKSVVFKGEKRRGHTGEIGLDDVSLKKGHCSEER"
     sig_peptide     183..239
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    1083..1349
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UXI9.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1326..1334
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UXI9.3);
                     Region: Integrin interaction"
     regulatory      4540..4545
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /note="hexamer: AATAAA"
     polyA_site      4561
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /note="major polyA site"
ORIGIN
        1 gcgcagcaga cctgctccgg ccgcgcgcct cgccgctgtc ctccgggagc ggcagcagta
       61 gcccgggcgg cgagggctgg gggttcctcg agactctcag aggggcgcct cccatcggcg
      121 cccaccaccc caacctgttc ctcgcgcgcc actgcgctgc gccccaggac ccgctgccca
      181 acatggattt tctcctggcg ctggtgctgg tatcctcgct ctacctgcag gcggccgccg
      241 agttcgacgg gaggtggccc aggcaaatag tgtcatcgat tggcctatgt cgttatggtg
      301 ggaggattga ctgctgctgg ggctgggctc gccagtcttg gggacagtgt cagcctgtgt
      361 gccaaccacg atgcaaacat ggtgaatgta tcgggccaaa caagtgcaag tgtcatcctg
      421 gttatgctgg aaaaacctgt aatcaagatc taaatgagtg tggcctgaag ccccggccct
      481 gtaagcacag gtgcatgaac acttacggca gctacaagtg ctactgtctc aacggatata
      541 tgctcatgcc ggatggttcc tgctcaagtg ccctgacctg ctccatggca aactgtcagt
      601 atggctgtga tgttgttaaa ggacaaatac ggtgccagtg cccatcccct ggcctgcagc
      661 tggctcctga tgggaggacc tgtgtagatg ttgatgaatg tgctacagga agagcctcct
      721 gccctagatt taggcaatgt gtcaacactt ttgggagcta catctgcaag tgtcataaag
      781 gcttcgatct catgtatatt ggaggcaaat atcaatgtca tgacatagac gaatgctcac
      841 ttggtcagta tcagtgcagc agctttgctc gatgttataa catacgtggg tcctacaagt
      901 gcaaatgtaa agaaggatac cagggtgatg gactgacttg tgtgtatatc ccaaaagtta
      961 tgattgaacc ttcaggtcca attcatgtac caaagggaaa tggtaccatt ttaaagggtg
     1021 acacaggaaa taataattgg attcctgatg ttggaagtac ttggtggcct ccgaagacac
     1081 catatattcc tcctatcatt accaacaggc ctacttctaa gccaacaaca agacctacac
     1141 caaagccaac accaattcct actccaccac caccaccacc cctgccaaca gagctcagaa
     1201 cacctctacc acctacaacc ccagaaaggc caaccaccgg actgacaact atagcaccag
     1261 ctgccagtac acctccagga gggattacag ttgacaacag ggtacagaca gaccctcaga
     1321 aacccagagg agatgtgttc attccacggc aaccttcaaa tgacttgttt gaaatatttg
     1381 aaatagaaag aggagtcagt gcagacgatg aagcaaagga tgatccaggt gttctggtac
     1441 acagttgtaa ttttgaccat ggactttgtg gatggatcag ggagaaagac aatgacttgc
     1501 actgggaacc aatcagggac ccagcaggtg gacaatatct gacagtgtcg gcagccaaag
     1561 ccccaggggg aaaagctgca cgcttggtgc tacctctcgg ccgcctcatg cattcagggg
     1621 acctgtgcct gtcattcagg cacaaggtga cggggctgca ctctggcaca ctccaggtgt
     1681 ttgtgagaaa acacggtgcc cacggagcag ccctgtgggg aagaaatggt ggccatggct
     1741 ggaggcaaac acagatcacc ttgcgagggg ctgacatcaa gagcgtcgtc ttcaaaggtg
     1801 aaaaaaggcg tggtcacact ggggagattg gattagatga tgtgagcttg aaaaaaggcc
     1861 actgctctga agaacgctaa caactccaga actaacaatg aactcctatg ttgctctatc
     1921 ctctttttcc aattctcatc ttctctcctc ttctcccttt tatcaggcct aggagaagag
     1981 tgggtcagtg ggtcagaagg aagtctattt ggtgacccag gtttttctgg cctgcttttg
     2041 tgcaatccca atgaacagtg ataccctcct tgaaatacag gggcatcgca gacacatcaa
     2101 agccatctgt gggtgttgcc ttccatcctg tgtctctttc aggaaggcat tcagcatgcg
     2161 tgagccatac catcctccat cctgattaca aggtgctcct tgtagcaaat tatgagagtg
     2221 agttacggga gcagttttta aaagaaatct ttgcagatgg ctatgatgtt atgtgttcgg
     2281 tgttgtacca tgagtagtat tgacttccct tgagatatga tgtacaatgt gcttgtgaaa
     2341 ttgacttacc ctcttcactt aagttagttc tggcctgacc tgaactctga cttttactgc
     2401 cattcacttt ataaaataag ggtgtgtaac atatcaagat acatttattt ttatctgttt
     2461 tttttttcct gttaaagaca attatgtaga gtgggcacgt aatccctcct tagtagtatt
     2521 gtgttttgtg taaatgtgct attgatatta agtatttaca tgttccaaat atttacagac
     2581 tctagttgca aggtaaaggg cagcttgtga tctcaaaaaa atacatggtg aaatgtcatc
     2641 cagttccatg accttatatt ggcagcagta ggaaattggc agaagtgttg ggttgtggta
     2701 acggagtgat gaattttttt ttaatggcct tgagtttgat ctctgcaaag gataggaaac
     2761 ctttaggaag acaagaaact gcagttaatt tagaactgtc actgtttcaa gttacacttt
     2821 aaaaccacag cttttaccat cataacatgg ctctggtaat atgtaggaag ctttataaaa
     2881 gttttggttg attcagaaaa aggatcctgt tgcagagtga gaggaagcat agggggaaac
     2941 tccattggaa cagattttca cacaacgttt taaattgata taagtttagg cagttgtagt
     3001 tcataactta tgttgctcat gttgtgctgt gtcaggatgg gataggaagc aagtcccatg
     3061 cttagaggca tgggatgtgt tggaacggga tttacacaca ctggaggagc agggcaagtt
     3121 ggaattctaa gatccatgaa cccccaactg tatttcctcc ctgcatattt taccaatata
     3181 ttaaaaaaca atgtaacttt taaaaggcat cattcctgag gtttgtctta atttctgatt
     3241 aagtaatcag aatattttct gctatttttg ccaggaatca caaagatgat taaagggttg
     3301 gaaaaaaaga tctatgatgg aaaattaaag gaactgggat tattgagcct ggagaagaga
     3361 agactgaggg gcaaaccatt gatggttttc aagtatatga agggttggca cagagagggt
     3421 ggcgaccagc tgttctccat atgcactaag aatagaacaa gaggaaactg gcttagacta
     3481 gagtataagg gagcatttct tggcaggggc cattgttaga atacttcata aaaaaagaag
     3541 tgtgaaaatc tcagtatctc tctctctttc taaaaaatta gataaaaatt tgtctattta
     3601 agatggttaa agatgttctt acccaaggaa aagtaacaaa ttatagaatt tcccaaaaga
     3661 tgttttgatc ctactagtag tatgcagtga aaatctttag aactaaataa tttggacaag
     3721 gcttaattta ggcatttccc tcttgacctc ctaatggaga gggattgaaa ggggaagagc
     3781 ccaccaaatg ctgagctcac tgaaatatct ctcccttatg gcaatcctag cagtattaaa
     3841 gaaaaaagga aactatttat tccaaatgag agtatgatgg acagatattt tagtatctca
     3901 gtaatgtcct agtgtggcgg tggttttcaa tgtttcttca tgttaaaggt ataagccttt
     3961 catttgttca atggatgatg tttcagattt tttttttttt aagagatcct tcaaggaaca
     4021 cagttcagag agattttcat cgggtgcatt ctctctgctt cgtgtgtgac aagttatctt
     4081 ggctgctgag aaagagtgcc ctgccccaca ccggcagacc tttccttcac ctcatcagta
     4141 tgattcagtt tctcttatca attggactct cccaggttcc acagaacagt aatatttttt
     4201 gaacaatagg tacaatagaa ggtcttctgt catttaacct ggtaaaggca gggctggagg
     4261 gggaaaataa atcattaagc ctttgagtaa cggcagaata tatggctgta gatccatttt
     4321 taatggttca tttcctttat ggtcatataa ctgcacagct gaagatgaaa ggggaaaata
     4381 aatgaaaatt ttacttttcg atgccaatga tacattgcac taaactgatg gaagaagtta
     4441 tccaaagtac tgtataacat cttgtttatt atttaatgtt ttctaaaata aaaaatgtta
     4501 gtggttttcc aaatggccta ataaaaacaa ttatttgtaa ataaaaacac tgttagtaat
     4561 a
//
LOCUS       NM_001033050            1784 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens mitochondrial transcription termination factor 2
            (MTERF2), transcript variant 1, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_001033050
VERSION     NM_001033050.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1784)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1784)
  AUTHORS   Han Y, Gao P, Qiu S, Zhang L, Yang L, Zuo J, Zhong C, Zhu S and Liu
            W.
  TITLE     MTERF2 contributes to MPP(+)-induced mitochondrial dysfunction and
            cell damage
  JOURNAL   Biochem Biophys Res Commun 471 (1), 177-183 (2016)
   PUBMED   26826381
  REMARK    GeneRIF: These findings demonstrate that MTERF2 contributes to
            MPP(+)-induced mitochondrial disruption and cell damage.
REFERENCE   3  (bases 1 to 1784)
  AUTHORS   Hyvarinen AK, Pohjoismaki JL, Holt IJ and Jacobs HT.
  TITLE     Overexpression of MTERFD1 or MTERFD3 impairs the completion of
            mitochondrial DNA replication
  JOURNAL   Mol Biol Rep 38 (2), 1321-1328 (2011)
   PUBMED   20577816
  REMARK    GeneRIF: MTERFD1 and MTERFD3 have a role in impairing the completion
            of mitochondrial DNA replication
REFERENCE   4  (bases 1 to 1784)
  AUTHORS   Spahr H, Samuelsson T, Hallberg BM and Gustafsson CM.
  TITLE     Structure of mitochondrial transcription termination factor 3
            reveals a novel nucleic acid-binding domain
  JOURNAL   Biochem Biophys Res Commun 397 (3), 386-390 (2010)
   PUBMED   20430012
  REMARK    GeneRIF: MTERF-domain of human MTERF3 forms a half-doughnut-shaped
            right-handed superhelix.
REFERENCE   5  (bases 1 to 1784)
  AUTHORS   Pellegrini M, Asin-Cayuela J, Erdjument-Bromage H, Tempst P, Larsson
            NG and Gustafsson CM.
  TITLE     MTERF2 is a nucleoid component in mammalian mitochondria
  JOURNAL   Biochim Biophys Acta 1787 (5), 296-302 (2009)
   PUBMED   19366608
REFERENCE   6  (bases 1 to 1784)
  AUTHORS   Chen Y, Zhou G, Yu M, He Y, Tang W, Lai J, He J, Liu W and Tan D.
  TITLE     Cloning and functional analysis of human mTERFL encoding a novel
            mitochondrial transcription termination factor-like protein
  JOURNAL   Biochem Biophys Res Commun 337 (4), 1112-1118 (2005)
   PUBMED   16226716
  REMARK    GeneRIF: mTERFL is a novel mTERF family member and a
            serum-inhibitory factor probably participating in the regulation of
            cell growth
REFERENCE   7  (bases 1 to 1784)
  AUTHORS   Linder T, Park CB, Asin-Cayuela J, Pellegrini M, Larsson NG,
            Falkenberg M, Samuelsson T and Gustafsson CM.
  TITLE     A family of putative transcription termination factors shared
            amongst metazoans and plants
  JOURNAL   Curr Genet 48 (4), 265-269 (2005)
   PUBMED   16193327
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.362250.1,
            SRR1803616.175706.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467148
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000240050.9/ ENSP00000240050.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK024124.1, BC025984.1 and AC007541.9.
            On Nov 22, 2018 this sequence version replaced NM_001033050.2.
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1784
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.3"
     gene            1..1784
                     /gene="MTERF2"
                     /gene_synonym="MTERFD3; mTERFL"
                     /note="mitochondrial transcription termination factor 2"
                     /db_xref="GeneID:80298"
                     /db_xref="HGNC:HGNC:30779"
                     /db_xref="MIM:616929"
     misc_feature    335..337
                     /gene="MTERF2"
                     /gene_synonym="MTERFD3; mTERFL"
                     /note="upstream in-frame stop codon"
     CDS             347..1504
                     /gene="MTERF2"
                     /gene_synonym="MTERFD3; mTERFL"
                     /note="mTERF domain-containing protein 3, mitochondrial;
                     mitochondrial transcription termination factor-like
                     protein; MTERF domain containing 3; transcription
                     termination factor 2, mitochondrial; mTERF-like"
                     /codon_start=1
                     /product="transcription termination factor 2, mitochondrial
                     precursor"
                     /protein_id="NP_001028222.1"
                     /db_xref="CCDS:CCDS9111.1"
                     /db_xref="GeneID:80298"
                     /db_xref="HGNC:HGNC:30779"
                     /db_xref="MIM:616929"
                     /translation="MLWKLLLRSQSCRLCSFRKMRSPPKYRPFLACFTYTTDKQSSKEN
                     TRTVEKLYKCSVDIRKIRRLKGWVLLEDETYVEEIANILQELGADETAVASILERCPEA
                     IVCSPTAVNTQRKLWQLVCKNEEELIKLIEQFPESFFTIKDQENQKLNVQFFQELGLKN
                     VVISRLLTAAPNVFHNPVEKNKQMVRILQESYLDVGGSEANMKVWLLKLLSQNPFILLN
                     SPTAIKETLEFLQEQGFTSFEILQLLSKLKGFLFQLCPRSIQNSISFSKNAFKCTDHDL
                     KQLVLKCPALLYYSVPVLEERMQGLLREGISIAQIRETPMVLELTPQIVQYRIRKLNSS
                     GYRIKDGHLANLNGSKKEFEANFGKIQAKKVRPLFNPVAPLNVEE"
     transit_peptide 347..451
                     /gene="MTERF2"
                     /gene_synonym="MTERFD3; mTERFL"
                     /note="Mitochondrion.
                     /evidence=ECO:0000269|PubMed:19366608; propagated from
                     UniProtKB/Swiss-Prot (Q49AM1.2)"
     regulatory      1486..1491
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTERF2"
                     /gene_synonym="MTERFD3; mTERFL"
                     /note="hexamer: ATTAAA"
     polyA_site      1504
                     /gene="MTERF2"
                     /gene_synonym="MTERFD3; mTERFL"
                     /note="major polyA site"
     regulatory      1677..1682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTERF2"
                     /gene_synonym="MTERFD3; mTERFL"
                     /note="hexamer: TATAAA"
     polyA_site      1697
                     /gene="MTERF2"
                     /gene_synonym="MTERFD3; mTERFL"
     regulatory      1748..1753
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTERF2"
                     /gene_synonym="MTERFD3; mTERFL"
                     /note="hexamer: ATTAAA"
     polyA_site      1784
                     /gene="MTERF2"
                     /gene_synonym="MTERFD3; mTERFL"
ORIGIN
        1 actgatggcc tggttggcgc tgctgagaac tgtcgggagc ttcttgagac cgaggaccga
       61 aatcccggct ccaggcctcg gggactgcgg actgtgggga ggctggccgg agagagaggg
      121 aaggacgggg cctggccccc gggactccct gtgccttgct tggagctgac gccgacggtt
      181 tattgcaggg aactgacaag atcacatttt gagaagaagt tggaaagaat cccaagtgga
      241 tgaactgaat atctggatga ggacaagatc tgtggggaga gactgtaaga tagaatgagt
      301 ccatttaagt cccaggacgg tggaaactag ctagtagatt gcagccatgt tgtggaagct
      361 gctgctgaga tcccagtcct gcaggctgtg ttctttcaga aagatgcgat cacctccaaa
      421 atacagacct ttcttagcat gcttcaccta tacaactgat aaacagtcga gcaaagaaaa
      481 tacaagaaca gtggaaaagc tctataaatg ttcagttgac attaggaaaa ttcgtagatt
      541 aaaaggatgg gtacttttag aggatgaaac ctatgttgaa gaaattgcga atattttaca
      601 agaactaggt gccgatgaga ctgctgtagc cagtattttg gaacgctgcc cggaagcaat
      661 tgtctgtagt ccaaccgctg ttaacaccca gagaaaactc tggcagttgg tctgcaaaaa
      721 tgaggaagag ttaatcaagt taatagagca gtttccagaa tctttcttta ctattaaaga
      781 ccaagagaac cagaagctga atgttcagtt ctttcaagag ttgggactaa aaaatgtggt
      841 cattagcaga cttttgacag ctgcacctaa tgtttttcat aatcctgttg agaagaataa
      901 gcaaatggta agaattctcc aagagagtta tctagatgta ggtggctctg aggccaacat
      961 gaaagtttgg ctactaaaat tgttaagcca aaacccattt attttgttaa attctcccac
     1021 agctataaag gaaacactag aatttctcca ggagcaaggt ttcaccagct ttgaaattct
     1081 ccagcttcta tccaaactca aaggatttct ttttcaactt tgcccaagaa gtatacagaa
     1141 tagtatttcc ttctctaaaa atgcttttaa atgcacagat catgacctga agcaattagt
     1201 tttgaaatgt cctgcccttt tatattattc tgttccagtt ttagaagaga gaatgcaagg
     1261 attattgaga gaaggaattt ccatagctca gataagagag acgccaatgg ttcttgaatt
     1321 aacaccacag atagtacagt acaggataag gaaactgaat tcctcaggct acagaataaa
     1381 ggatggacat ctagcaaatc taaatggatc aaaaaaagag tttgaagcta attttggcaa
     1441 aattcaggcc aaaaaagtaa ggccattatt taaccctgtg gcaccattaa atgttgaaga
     1501 atgacatact gactgttgtt gcttctttct agcagtgcag ggtgaaacta actagcaaag
     1561 acaaaaattc aggcagtttg tagacaccag taattttaag aacctgctta gcttctgtgt
     1621 tgtatttaag ttatctctaa atagataaat tctgactcat gtgccatatt ataaaatata
     1681 aatcatattt attttaataa ggttggtaac ttttaccttg aaccattatt tcaaaaactc
     1741 atatactatt aaatggcata tcagtgtgat actttataag tgaa
//
LOCUS       NM_001033057            7851 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens membrane associated guanylate kinase, WW and PDZ domain
            containing 1 (MAGI1), transcript variant 3, mRNA.
ACCESSION   NM_001033057
VERSION     NM_001033057.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7851)
  AUTHORS   Worthmuller J, Disler S, Pradervand S, Richard F, Haerri L, Ruiz
            Buendia GA, Fournier N, Desmedt C and Ruegg C.
  TITLE     MAGI1 Prevents Senescence and Promotes the DNA Damage Response in
            ER+ Breast Cancer
  JOURNAL   Cells 12 (15), 1929 (2023)
   PUBMED   37566008
  REMARK    GeneRIF: MAGI1 Prevents Senescence and Promotes the DNA Damage
            Response in ER[+] Breast Cancer. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 7851)
  AUTHORS   Davuluri KS, Singh AK, Kumar V, Singh SV, Singh AV, Kumar S, Yadav
            R, Kushwaha S and Chauhan DS.
  TITLE     Stimulated expression of ELR+ chemokines, VEGFA and TNF-AIP3 promote
            mycobacterial dissemination in extrapulmonary tuberculosis patients
            and Cavia porcellus model of tuberculosis
  JOURNAL   Tuberculosis (Edinb) 135, 102224 (2022)
   PUBMED   35763913
  REMARK    GeneRIF: Stimulated expression of ELR+ chemokines, VEGFA and
            TNF-AIP3 promote mycobacterial dissemination in extrapulmonary
            tuberculosis patients and Cavia porcellus model of tuberculosis.
REFERENCE   3  (bases 1 to 7851)
  AUTHORS   Araujo-Arcos LE, Montano S, Bello-Rios C, Garibay-Cerdenares OL,
            Leyva-Vazquez MA and Illades-Aguiar B.
  TITLE     Molecular insights into the interaction of HPV-16 E6 variants
            against MAGI-1 PDZ1 domain
  JOURNAL   Sci Rep 12 (1), 1898 (2022)
   PUBMED   35115618
  REMARK    GeneRIF: Molecular insights into the interaction of HPV-16 E6
            variants against MAGI-1 PDZ1 domain. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 7851)
  AUTHORS   Worthmuller J and Ruegg C.
  TITLE     MAGI1, a Scaffold Protein with Tumor Suppressive and Vascular
            Functions
  JOURNAL   Cells 10 (6), 1494 (2021)
   PUBMED   34198584
  REMARK    GeneRIF: MAGI1, a Scaffold Protein with Tumor Suppressive and
            Vascular Functions. Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 7851)
  AUTHORS   Kantar D, Mur EB, Mancini M, Slaninova V, Salah YB, Costa L, Forest
            E, Lassus P, Geminard C, Boissiere-Michot F, Orsetti B, Theillet C,
            Colinge J, Benistant C, Maraver A, Heron-Milhavet L and Djiane A.
  TITLE     MAGI1 inhibits the AMOTL2/p38 stress pathway and prevents luminal
            breast tumorigenesis
  JOURNAL   Sci Rep 11 (1), 5752 (2021)
   PUBMED   33707576
  REMARK    GeneRIF: MAGI1 inhibits the AMOTL2/p38 stress pathway and prevents
            luminal breast tumorigenesis. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 7851)
  AUTHORS   Mino A, Ohtsuka T, Inoue E and Takai Y.
  TITLE     Membrane-associated guanylate kinase with inverted orientation
            (MAGI)-1/brain angiogenesis inhibitor 1-associated protein (BAP1) as
            a scaffolding molecule for Rap small G protein GDP/GTP exchange
            protein at tight junctions
  JOURNAL   Genes Cells 5 (12), 1009-1016 (2000)
   PUBMED   11168587
REFERENCE   7  (bases 1 to 7851)
  AUTHORS   Shiratsuchi T, Futamura M, Oda K, Nishimori H, Nakamura Y and Tokino
            T.
  TITLE     Cloning and characterization of BAI-associated protein 1: a PDZ
            domain-containing protein that interacts with BAI1
  JOURNAL   Biochem Biophys Res Commun 247 (3), 597-604 (1998)
   PUBMED   9647739
REFERENCE   8  (bases 1 to 7851)
  AUTHORS   Dobrosotskaya I, Guy RK and James GL.
  TITLE     MAGI-1, a membrane-associated guanylate kinase with a unique
            arrangement of protein-protein interaction domains
  JOURNAL   J Biol Chem 272 (50), 31589-31597 (1997)
   PUBMED   9395497
REFERENCE   9  (bases 1 to 7851)
  AUTHORS   Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel TS,
            Stine OC, Callahan C, McInnis MG and Ross CA.
  TITLE     cDNAs with long CAG trinucleotide repeats from human brain
  JOURNAL   Hum Genet 100 (1), 114-122 (1997)
   PUBMED   9225980
REFERENCE   10  (bases 1 to 7851)
  AUTHORS   Pirozzi G, McConnell SJ, Uveges AJ, Carter JM, Sparks AB, Kay BK and
            Fowlkes DM.
  TITLE     Identification of novel human WW domain-containing proteins by
            cloning of ligand targets
  JOURNAL   J Biol Chem 272 (23), 14611-14616 (1997)
   PUBMED   9169421
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF401656.1, SRR18074969.3276626.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000402939.7/ ENSP00000385450.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC145425.5, BC062367.1,
            AF401654.1, AK023358.1 and AC121493.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001033057.1.
            Summary: The protein encoded by this gene is a member of the
            membrane-associated guanylate kinase homologue (MAGUK) family.
            MAGUK proteins participate in the assembly of multiprotein
            complexes on the inner surface of the plasma membrane at regions of
            cell-cell contact. The product of this gene may play a role as
            scaffolding protein at cell-cell junctions. Alternatively spliced
            transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (3) lacks two segments in the
            coding region, one of which leads to a frameshift, compared to
            variant 1. The resulting isoform (c) contains a shorter and
            distinct C-terminus, compared to isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7851
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.1"
     gene            1..7851
                     /gene="MAGI1"
                     /gene_synonym="AIP-3; AIP3; BAIAP1; BAP-1; BAP1; MAGI-1;
                     MAGI-1b; Magi1d; TNRC19; WWP3"
                     /note="membrane associated guanylate kinase, WW and PDZ
                     domain containing 1"
                     /db_xref="GeneID:9223"
                     /db_xref="HGNC:HGNC:946"
                     /db_xref="MIM:602625"
     misc_feature    602..604
                     /gene="MAGI1"
                     /gene_synonym="AIP-3; AIP3; BAIAP1; BAP-1; BAP1; MAGI-1;
                     MAGI-1b; Magi1d; TNRC19; WWP3"
                     /note="upstream in-frame stop codon"
     CDS             611..4999
                     /gene="MAGI1"
                     /gene_synonym="AIP-3; AIP3; BAIAP1; BAP-1; BAP1; MAGI-1;
                     MAGI-1b; Magi1d; TNRC19; WWP3"
                     /note="isoform c is encoded by transcript variant 3; WW
                     domain-containing protein 3; BAI1-associated protein 1;
                     atrophin-1-interacting protein 3; membrane-associated
                     guanylate kinase inverted 1; trinucleotide
                     repeat-containing gene 19 protein"
                     /codon_start=1
                     /product="membrane-associated guanylate kinase, WW and PDZ
                     domain-containing protein 1 isoform c"
                     /protein_id="NP_001028229.1"
                     /db_xref="CCDS:CCDS33780.1"
                     /db_xref="GeneID:9223"
                     /db_xref="HGNC:HGNC:946"
                     /db_xref="MIM:602625"
                     /translation="MSKVIQKKNHWTSRVHECTVKRGPQGELGVTVLGGAEHGEFPYVG
                     AVAAVEAAGLPGGGEGPRLGEGELLLEVQGVRVSGLPRYDVLGVIDSCKEAVTFKAVRQ
                     GGRLNKDLRHFLNQRFQKGSPDHELQQTIRDNLYRHAVPCTTRSPREGEVPGVDYNFLT
                     VKEFLDLEQSGTLLEVGTYEGNYYGTPKPPSQPVSGKVITTDALHSLQSGSKQSTPKRT
                     KSYNDMQNAGIVHAENEEEDDVPEMNSSFTADSGEQEEHTLQETALPPVNSSIIAAPIT
                     DPSQKFPQYLPLSAEDNLGPLPENWEMAYTENGEVYFIDHNTKTTSWLDPRCLNKQQKP
                     LEECEDDEGVHTEELDSELELPAGWEKIEDPVYGIYYVDHINRKTQYENPVLEAKRKKQ
                     LEQQQQQQQQQQQQQQQQQQQQTEEWTEDHSALVPPVIPNHPPSNPEPAREVPLQGKPF
                     FTRNPSELKGKFIHTKLRKSSRGFGFTVVGGDEPDEFLQIKSLVLDGPAALDGKMETGD
                     VIVSVNDTCVLGHTHAQVVKIFQSIPIGASVDLELCRGYPLPFDPDDPNTSLVTSVAIL
                     DKEPIIVNGQETYDSPASHSSKTGKVNGMKDARPSSPADVASNSSHGYPNDTVSLASSI
                     ATQPELITVHIVKGPMGFGFTIADSPGGGGQRVKQIVDSPRCRGLKEGDLIVEVNKKNV
                     QALTHNQVVDMLVECPKGSEVTLLVQRGGLPVPKKSPKSQPLERKDSQNSSQHSVSSHR
                     SLHTASPSHSTQVLPEFPPAEAQAPDQTDSSGQKKPDPFKIWAQSRSMYENRLPDYQEQ
                     DIFLWRKETGFGFRILGGNEPGEPIYIGHIVPLGAADTDGRLRSGDELICVDGTPVIGK
                     SHQLVVQLMQQAAKQGHVNLTVRRKVVFAVPKTENEVPSPASSHHSSNQPASLTEEKRT
                     PQGSQNSLNTVSSGSGSTSGIGSGGGGGSGVVSTVVQPYDVEIRRGENEGFGFVIVSSV
                     SRPEAGTTFGNACVAMPHKIGRIIEGSPADRCGKLKVGDRILAVNGCSITNKSHSDIVN
                     LIKEAGNTVTLRIIPGDESSNATLLTNAEKIATITTTHTPSQQGTQETRNTTKPKQESQ
                     FEFKAPQATQEQDFYTVELERGAKGFGFSLRGGREYNMDLYVLRLAEDGPAERCGKMRI
                     GDEILEINGETTKNMKHSRAIELIKNGGRRVRLFLKRGDGSVPEYDPSSDRHGPATGPQ
                     GVPEVRAGPDRRQHPSLESSYPPDLHKSSPHGEKRAHARDPKGSREYSRQPNEHHTWNG
                     TSRKPDSGACRPKDRAPEGRRDAQAERAAAANGPKRRSPEKRREGTRSADNTLERREKH
                     EKRRDVSPERRRERSPTRRRDGSPSRRRRSLERLLEQRRSPERRRGGSPERRAKSTDRR
                     RARSPERRRERSLDKRNREDRASHREREEANLKQDAGRSSRHPPEQRRRPYKECSTDLS
                     I"
     regulatory      7821..7826
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAGI1"
                     /gene_synonym="AIP-3; AIP3; BAIAP1; BAP-1; BAP1; MAGI-1;
                     MAGI-1b; Magi1d; TNRC19; WWP3"
                     /note="hexamer: AATACA"
     polyA_site      7851
                     /gene="MAGI1"
                     /gene_synonym="AIP-3; AIP3; BAIAP1; BAP-1; BAP1; MAGI-1;
                     MAGI-1b; Magi1d; TNRC19; WWP3"
                     /note="major polyA site"
ORIGIN
        1 atgcgcgcgc gtctcctgtc gccggccgct gcgctccgcg gcgcggaata gaatgaactg
       61 taacaaaaca agccgagcct ttgtatctgc ttaaaggggc cgcgagcact tacctcccgc
      121 cctgctcccc gccgccccgc caccgcgtct tcagggctcc cggcaactgg ctggaagggc
      181 ttccctcacc ctcagtaaca gcctgccagc gaggagaggc gagccgggcg ggaggcaaag
      241 aggaggcacc gcatttgtaa aaggcaagag agaaaggaag gaaggaaaaa aaaataaccc
      301 gagcggcgca gagtggactc tggtccggga gagcacgggc gggcgccgga acgtggaccc
      361 agaggcaccg gaatgcaaac aaagctcgcg ggcgcctgtg cggggctcgc ggggaagccc
      421 agaaagtttg ttttatgatg gcttgagtgc gcgagcgtgt gcaggggagc gaggctgcca
      481 agtttctctc tcctgttttg tgatttgggg agagatgttt ctcccatgaa caagcggagg
      541 cttgggggct cgtgctgtgg ggggcacctg tctctcgttt tatttttttg gaggaggggt
      601 gtaactcatc atgtccaaag tgatccagaa gaagaaccac tggactagca gggttcacga
      661 atgcaccgtg aagcggggac cccagggcga gctgggggtg acggtgctgg gaggcgcgga
      721 gcacggggag tttccgtacg tcggagcggt ggcggcggtc gaggcagcgg ggcttcccgg
      781 cggcggcgag ggcccgaggc tgggcgaagg ggagctgctt ctggaggtgc agggggtccg
      841 ggtgtccggc ttgccccgct atgacgtgct gggggtcatc gacagctgca aggaggccgt
      901 caccttcaag gccgtcagac aaggaggaag gctgaacaag gacctgcgac attttctcaa
      961 tcagcgattc cagaaggggt ctcctgatca tgagctccag cagaccataa gggataacct
     1021 ttaccgccat gctgtgcctt gcacaacccg atctcccaga gaaggagaag tgcctggcgt
     1081 ggactataac tttctgactg tgaaggagtt cttggacctc gagcagagtg ggactcttct
     1141 ggaagtcggc acctatgaag gaaactatta tgggacaccc aagcctccta gccagccagt
     1201 cagtgggaaa gtgatcacga cggatgcctt gcacagcctt cagtctggct ctaagcagtc
     1261 gaccccgaag cgaaccaagt cctacaatga tatgcaaaat gctggcatag tccacgcgga
     1321 gaatgaggag gaggatgacg ttcctgaaat gaacagcagc tttacagccg attctggtga
     1381 acaagaggag cacactctcc aagaaacagc attaccacct gtgaatagta gcatcatcgc
     1441 tgctcccatc acggaccctt ctcagaagtt ccctcaatac ctacctcttt ctgcagagga
     1501 taatttaggt cctctacctg aaaactggga gatggcctat actgaaaatg gagaagtcta
     1561 ttttatagac cataacacga aaacaacatc ttggttagac cctcggtgcc taaacaagca
     1621 gcagaagcca ctggaagagt gtgaagatga tgaaggggta cacaccgagg agctggacag
     1681 tgaactagaa ctgcctgctg gttgggaaaa gattgaagac cctgtctatg gtatctacta
     1741 tgtagaccac atcaacagga agacacaata tgagaacccg gttctagaag ccaaacggaa
     1801 gaagcagctt gagcagcagc agcagcagca acagcagcag caacagcagc agcagcagca
     1861 gcagcagcag cagacagaag aatggacaga agatcactca gcccttgtgc ctcctgttat
     1921 tccaaaccac cctccaagca atccagagcc agccagagaa gttccacttc agggcaaacc
     1981 cttttttaca cgaaaccctt ctgagttgaa aggcaagttc attcacacaa agctgcggaa
     2041 aagcagtcgt ggctttggct tcacggtggt tggaggggat gaacctgatg agtttctcca
     2101 gatcaagagc ttggtcctag atggtcctgc tgcattggat ggcaagatgg aaacagggga
     2161 tgtgattgta agtgtgaatg acacctgtgt tttgggacac acacatgctc aagttgtgaa
     2221 gatcttccag tccatcccca ttggtgccag cgtggacctt gaactctgcc gaggttatcc
     2281 attgcctttt gatccagatg accccaatac aagtttagtg acctcggtag ccattttgga
     2341 taaagaacca attattgtga atgggcaaga gacctatgat tcaccagcta gccacagtag
     2401 taaaacaggc aaagtcaatg gcatgaagga tgccaggcca agcagcccag cggacgtggc
     2461 ttcaaatagt tctcatggtt atcctaatga cactgtttct ttggcttcct ccatagccac
     2521 tcagccagaa ctcataactg ttcatattgt caaagggcca atgggctttg gttttactat
     2581 cgcagacagt cctggtgggg gtggccaaag agtgaaacag attgttgaca gcccaaggtg
     2641 ccgaggcctg aaagaagggg atctcatagt ggaagttaat aagaagaacg tgcaggccct
     2701 aactcacaac caagtggtgg atatgctggt tgagtgtcct aagggaagtg aggtcacatt
     2761 gttggtgcaa cgaggagggc tgccagttcc caagaagagc ccaaagtcgc aaccactgga
     2821 aaggaaagac agccagaata gttctcagca cagtgtttcc agccaccgaa gcctgcacac
     2881 agcatcccca agccacagca cacaggtgct ccccgagttc ccacctgcag aggcccaagc
     2941 tccagatcaa actgacagct ctggccagaa aaaaccagat ccttttaaaa tctgggccca
     3001 gtccaggagc atgtatgaaa accgacttcc agattaccag gaacaggaca tcttcctctg
     3061 gagaaaagag actggatttg gatttaggat tctgggtgga aatgaaccag gggaacctat
     3121 ttatattggt cacatcgtac cactgggtgc tgctgatact gacggccgcc tgaggtctgg
     3181 agatgaatta atctgtgtgg atgggacgcc agtaattgga aaatcacacc agcttgtggt
     3241 ccagcttatg caacaagctg ccaagcaagg ccacgtcaat ctcacggtgc ggcgtaaagt
     3301 ggtttttgcg gtgcccaaaa ccgagaacga ggtgccctcg ccagcctcct ctcatcacag
     3361 tagcaaccag ccggcctcgc tgacagaaga gaagcgcact ccgcagggca gccagaactc
     3421 gctgaacacg gtgagctcgg gcagcggcag caccagcggc atcggcagtg gcggcggcgg
     3481 gggcagcggc gtggtcagca ccgtggtgca gccctacgac gtggagatcc ggcgcgggga
     3541 gaacgagggc ttcggcttcg tcatcgtgtc ctcggtgagc aggcccgaag caggcacgac
     3601 ctttggcaat gcatgtgtgg ctatgcctca caaaataggt cggattattg aggggagccc
     3661 tgctgaccgc tgtggcaagc tgaaagtagg agaccggatc ttggcagtaa atggatgttc
     3721 catcaccaac aaatcccatt cagacattgt gaacctaatc aaggaagcgg gaaacacagt
     3781 taccctccgc atcattcctg gggatgagtc ctcgaatgcc accttgctga ccaatgcaga
     3841 gaagattgcc accatcacca ccacacacac cccttctcag caagggaccc aggagacaag
     3901 gaataccacc aaaccaaagc aggaatctca atttgagttc aaagcacccc aagcaacaca
     3961 ggagcaagat ttttacactg tggaactgga aagaggagcc aagggatttg gctttagcct
     4021 tcgaggaggc cgagagtata acatggacct ctatgttctg cgcttagcag aggacggtcc
     4081 tgcggagagg tgtggaaaga tgaggattgg tgatgaaatt ttagagatca atggtgagac
     4141 caccaaaaac atgaagcatt ctcgagctat agaactgatt aagaatggtg gccgcagagt
     4201 tcgtctgttt ctgaagcggg gagacggctc agtaccagaa tatgacccca gcagcgaccg
     4261 ccacggcccc gccaccggtc cacaaggtgt tccggaagtg agggccgggc ccgaccgccg
     4321 gcagcatccg tcattggagt ccagttaccc acccgatctt cacaaatcat caccacatgg
     4381 ggaaaagcgg gcacacgcaa gggatccgaa aggcagcaga gagtatagca gacaacccaa
     4441 tgaacaccac acctggaatg ggacttcgag gaaacccgac agcggggcat gccgacccaa
     4501 ggaccgggcg ccggagggac ggagggacgc gcaggccgag cgcgcggcag ccgccaacgg
     4561 ccccaagagg cggtccccag agaagcggag ggagggcacc cgcagcgccg acaacacttt
     4621 ggagaggagg gagaagcacg agaagagacg agacgtctct ccggagcgga ggcgagagcg
     4681 gtcacccacc cgcaggagag acggctcccc cagccggcgg agacggtctc tggagagact
     4741 cctggagcag aggaggtccc ccgagcgcag gagagggggc tcgcccgagc gcagggccaa
     4801 gtccaccgac cggaggcgcg cacgctcccc cgagcgcagg agagagcggt ccctggacaa
     4861 aaggaacaga gaggacagag ccagccaccg agaaagggaa gaggcgaatc tgaaacagga
     4921 tgccggcaga agttccagac atcccccgga gcagagaagg cgaccttaca aagaatgtag
     4981 caccgacctc agtatctgag acgctgagtc acattccaac ctttaccgtg tcaaaggttc
     5041 taagaggaaa gtcacaaacc tgaaattatt tagtttctta cctaatgaag catctgacac
     5101 ctgatgatcc tatgaataac aacaaacatt ttatgcattt gaaatcttat aagaaaaaat
     5161 atatatgaaa agtattgtgc ctgatgtatc atattaaaga aagtattttt aaatgcatac
     5221 ttttttggaa attatttgcc aaatgctggc ccaaagggat ataaattttg tttctacgta
     5281 acctgtagaa tcgtcaagaa ttgttcccgt tttggggcaa tctttttctc tcctggttaa
     5341 atggggctgt tgatcatttt ctctacgtaa gggaatttat tgattaagtt taattaattt
     5401 gatatagact gtcatgtagt gatgtagtgc tatactgtag tcggaagttt ttcttaaaag
     5461 caaagagcaa aaatgcaaag ttttatttgt aaaagctgag gacccttggg gatggattag
     5521 gtttgccgat gatcctaaaa gtaagcaaac tgtatgacaa gactactatt gcaaatgaag
     5581 gatatttata gctaaactgc gcagcacaaa gaagttttat attgtgagtt atagttggtt
     5641 cagaaaacag tttgtactct ccctggccca ggaaggcaca cagacaaaaa tgtcggccac
     5701 ttttactcaa atacagccca agcacagaca gtcaggttcg tgatcatcac caacatctga
     5761 taaaatctca ttgaaggcaa tgccatcaca gctttgctca attactacga ggaagagaca
     5821 acaagcatct ttcgtgttgt ctcgtctgat tggaggctga atagtagatg gaatgggggg
     5881 acagtgtgcc tggtgtgagg aagacgtaag atccccaatt tggaaagcat gcccccctcc
     5941 cttttagtag aagcccatgg ttgccctttg ccaaactggg gaggaggcaa tgagccttgg
     6001 tggaaggaac ctctctgttg atatttaaag aagtgagggc tgtgggtatt cattgttaga
     6061 aatgccaatt tcactttgaa accatagtcc aagtctctag gttggtagaa gggaaaggaa
     6121 ggaagtggtc ccagtgattc taggtctggt tgggaaactt ctgcctcatg actctgtcct
     6181 ttgagtcctt tggacagcag cacaaaacat aacaattttt atttttaaac agacccattc
     6241 tttttgatcc cacaggagct gtggttgggt cggccgtagc cccgggatgt ggtttaagtg
     6301 gattactgcc tagctgagcc aaaatgtttg cttgtacctg ttggaccact acagcaaacc
     6361 gctgcttaca gtgcattgtg tatttctgta gtactgtttt gcattttcca tagagacaga
     6421 aaactttgca agtcaatcac tgttgttccc atggtactgt aagaaaaaaa aaaaggaaaa
     6481 agaaaaaaaa aaagaaaacc agccaatcat tgcgtgtaca gagctaaaaa ttgtaattaa
     6541 tagagcctgt tgggaaaaaa aagaaaacaa ctgttgcctt tttttcttgt ataaaagaga
     6601 atttatgaca aaatttagct gtgaggaatg tgatacgtgt ttatatttct gaatatggaa
     6661 caaattgatt catggggata tattttaatg taaactaaat caggtatgta aagttgtttt
     6721 aaaatgggag actatataag taattctcta aagctttagt tggtttgaat atcatcattt
     6781 cctccatggt gagcctgctt gtgaattatt aagcacttgt ttgcattctc tgttcttcac
     6841 tcatttattt cttgcagtgt gctatggact taatgctctt tctgtattga tgaaaagcag
     6901 tatgtgggcc aatcttttta taaaacacta tgcatatata aatattacat tgttcatagc
     6961 tttatttgac ttatgggttt atacataaca ttagaatgag tagctgtagt tgtgtggaca
     7021 tttataaaac aagttccttt cctggaacag acacaatata cattctgtag ctaaaaagga
     7081 gggaaaagtc tgtgaatgct atttttatta ttaaagtttt ccatacaaag catacattga
     7141 gctgtagtaa ggctgaggaa gagtacaact gaataatgat gttctttttc atcaagttcc
     7201 taagagctga cttggagatt ttattcccag ggctccactg ctaggattct tctcactagt
     7261 tctaacaaaa tctgtgatgt taaatgactg atgctctcaa ttgtgatcca gagttttaaa
     7321 taaatgaaat caaggtggat tttgggaata tatcctgaag ttaacatctt gatgtccttc
     7381 ttgttgtaag atgatatttg gcaatttaaa atctatgtgc tacccacctg ggcttgtctc
     7441 aatccgtgga ctttttggtg tggcagtttc acctgaattc cacacatcag atttgtttgg
     7501 aaatattgta ctgtacaggg actatgcatt atgcagaaag atatagtttt ctttgaactg
     7561 ctgtaacctt aaattggaaa ctgattcttg tgagcctact ttccttaatc ccgccgcccc
     7621 cctcccccac ttaatgtaaa tgtcttgatg agagataatg gatgagtatt ttgtatgatg
     7681 aaatcaaacg atttaggaat ttgtctccct ccgttacaca gttgatgcct gaaagaatgt
     7741 tgggggggag gactcaacac cctaattgta ttttttaagt ttcttttgtg aaagattttt
     7801 taatgcattt ttactgtaaa aatacatgga aatgtatgca ttccacaacc a
//
LOCUS       NM_001033080            1056 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens trace amine associated receptor 2 (TAAR2), transcript
            variant 1, mRNA.
ACCESSION   NM_001033080
VERSION     NM_001033080.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1056)
  AUTHORS   Babusyte A, Kotthoff M, Fiedler J and Krautwurst D.
  TITLE     Biogenic amines activate blood leukocytes via trace amine-associated
            receptors TAAR1 and TAAR2
  JOURNAL   J Leukoc Biol 93 (3), 387-394 (2013)
   PUBMED   23315425
  REMARK    GeneRIF: biogenic amines potently regulate blood cell functions via
            TAAR1 and TAAR2 and open the perspective of their specific
            pharmacological modulation.
REFERENCE   2  (bases 1 to 1056)
  AUTHORS   Luttrell LM.
  TITLE     Reviews in molecular biology and biotechnology: transmembrane
            signaling by G protein-coupled receptors
  JOURNAL   Mol Biotechnol 39 (3), 239-264 (2008)
   PUBMED   18240029
  REMARK    Review article
REFERENCE   3  (bases 1 to 1056)
  AUTHORS   Liberles SD and Buck LB.
  TITLE     A second class of chemosensory receptors in the olfactory epithelium
  JOURNAL   Nature 442 (7103), 645-650 (2006)
   PUBMED   16878137
  REMARK    GeneRIF: Previous studies reported TAAR expression in brain. This
            paper found TAAR expression only in olfactory epithelial cells and
            that each TAAR detects a unique set of amine ligands. TAARs seem to
            function as a family of chemosensory receptors for amines.
REFERENCE   4  (bases 1 to 1056)
  AUTHORS   Lindemann L, Ebeling M, Kratochwil NA, Bunzow JR, Grandy DK and
            Hoener MC.
  TITLE     Trace amine-associated receptors form structurally and functionally
            distinct subfamilies of novel G protein-coupled receptors
  JOURNAL   Genomics 85 (3), 372-385 (2005)
   PUBMED   15718104
REFERENCE   5  (bases 1 to 1056)
  AUTHORS   Lee DK, Lynch KR, Nguyen T, Im DS, Cheng R, Saldivia VR, Liu Y, Liu
            IS, Heng HH, Seeman P, George SR, O'Dowd BF and Marchese A.
  TITLE     Cloning and characterization of additional members of the G
            protein-coupled receptor family
  JOURNAL   Biochim Biophys Acta 1490 (3), 311-323 (2000)
   PUBMED   10684976
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY703480.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000367931.1/ ENSP00000356908.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY703480.1.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
FEATURES             Location/Qualifiers
     source          1..1056
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.2"
     gene            1..1056
                     /gene="TAAR2"
                     /gene_synonym="GPR58; taR-2"
                     /note="trace amine associated receptor 2"
                     /db_xref="GeneID:9287"
                     /db_xref="HGNC:HGNC:4514"
                     /db_xref="MIM:604849"
     CDS             1..1056
                     /gene="TAAR2"
                     /gene_synonym="GPR58; taR-2"
                     /note="isoform 1 is encoded by transcript variant 1; G
                     protein-coupled receptor 58"
                     /codon_start=1
                     /product="trace amine-associated receptor 2 isoform 1"
                     /protein_id="NP_001028252.1"
                     /db_xref="CCDS:CCDS34541.1"
                     /db_xref="GeneID:9287"
                     /db_xref="HGNC:HGNC:4514"
                     /db_xref="MIM:604849"
                     /translation="MAVSSEQHELSHFKRTQTKKEKFNCSEYGNRSCPENERSLGVRVA
                     MYSFMAGSIFITIFGNLAMIISISYFKQLHTPTNFLILSMAITDFLLGFTIMPYSMIRS
                     VENCWYFGLTFCKIYYSFDLMLSITSIFHLCSVAIDRFYAICYPLLYSTKITIPVIKRL
                     LLLCWSVPGAFAFGVVFSEAYADGIEGYDILVACSSSCPVMFNKLWGTTLFMAGFFTPG
                     SMMVGIYGKIFAVSRKHAHAINNLRENQNNQVKKDKKAAKTLGIVIGVFLLCWFPCFFT
                     ILLDPFLNFSTPVVLFDALTWFGYFNSTCNPLIYGFFYPWFRRALKYILLGKIFSSCFH
                     NTILCMQKESE"
     misc_feature    70..72
                     /gene="TAAR2"
                     /gene_synonym="GPR58; taR-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9P1P5.2); glycosylation site"
     misc_feature    88..90
                     /gene="TAAR2"
                     /gene_synonym="GPR58; taR-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9P1P5.2); glycosylation site"
     misc_feature    145..207
                     /gene="TAAR2"
                     /gene_synonym="GPR58; taR-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1P5.2);
                     transmembrane region"
     misc_feature    238..300
                     /gene="TAAR2"
                     /gene_synonym="GPR58; taR-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1P5.2);
                     transmembrane region"
     misc_feature    355..417
                     /gene="TAAR2"
                     /gene_synonym="GPR58; taR-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1P5.2);
                     transmembrane region"
     misc_feature    487..549
                     /gene="TAAR2"
                     /gene_synonym="GPR58; taR-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1P5.2);
                     transmembrane region"
     misc_feature    622..684
                     /gene="TAAR2"
                     /gene_synonym="GPR58; taR-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1P5.2);
                     transmembrane region"
     misc_feature    790..852
                     /gene="TAAR2"
                     /gene_synonym="GPR58; taR-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1P5.2);
                     transmembrane region"
     misc_feature    865..867
                     /gene="TAAR2"
                     /gene_synonym="GPR58; taR-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9P1P5.2); glycosylation site"
     misc_feature    898..966
                     /gene="TAAR2"
                     /gene_synonym="GPR58; taR-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P1P5.2);
                     transmembrane region"
ORIGIN
        1 atggctgtct catcagagca acatgaactt tcacatttca aaagaacaca gacaaaaaag
       61 gaaaaattca attgctctga atatggaaat agatcttgcc cagaaaatga aagatctctg
      121 ggtgtccgag tggctatgta ttcatttatg gcaggatcca tattcatcac aatatttggc
      181 aatcttgcca tgataatttc catttcctac ttcaagcagc ttcacacacc aaccaacttc
      241 ctcatcctct ccatggccat cactgatttc ctcctgggat tcaccatcat gccatatagt
      301 atgatcagat cggtggagaa ctgctggtat tttgggctta cattttgcaa gatttattat
      361 agttttgacc tgatgcttag cataacatcc atttttcatc tttgctcagt ggccattgat
      421 agattttatg ctatatgtta cccattactt tattccacca aaataactat tccagtcatt
      481 aaaagattgc tacttctatg ttggtcggtc cctggagcat ttgccttcgg ggtggtcttc
      541 tcagaggcct atgcagatgg aatagagggc tatgacatct tggttgcttg ttccagttcc
      601 tgcccagtga tgttcaacaa gctatggggg accaccttgt ttatggcagg tttcttcact
      661 cctgggtcta tgatggtggg gatttatggc aaaatttttg cagtatccag aaaacatgct
      721 catgccatca ataacttgcg agaaaatcaa aataatcaag tgaagaaaga caaaaaagct
      781 gccaaaactt taggaatagt gataggagtt ttcttattat gttggtttcc ttgtttcttc
      841 acaattttat tggatccctt tttgaacttc tctactcctg tagttttgtt tgatgccttg
      901 acatggtttg gctattttaa ctccacatgt aatccgttaa tatatggttt cttctatccc
      961 tggtttcgca gagcactgaa gtacattttg ctaggtaaaa ttttcagctc atgtttccat
     1021 aatactattt tgtgtatgca aaaagaaagt gagtag
//
LOCUS       NM_001033081            3522 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens MYCL proto-oncogene, bHLH transcription factor (MYCL),
            transcript variant 1, mRNA.
ACCESSION   NM_001033081
VERSION     NM_001033081.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3522)
  AUTHORS   Jiang H, Li X, Wang W, Hu Y and Ren D.
  TITLE     MYCL promotes the progression of triple-negative breast cancer by
            activating the JAK/STAT3 pathway
  JOURNAL   Oncol Rep 48 (5) (2022)
   PUBMED   36177900
  REMARK    GeneRIF: MYCL promotes the progression of triplenegative breast
            cancer by activating the JAK/STAT3 pathway.
REFERENCE   2  (bases 1 to 3522)
  AUTHORS   Akifuji C, Iwasaki M, Kawahara Y, Sakurai C, Cheng YS, Imai T and
            Nakagawa M.
  TITLE     MYCL promotes iPSC-like colony formation via MYC Box 0 and 2 domains
  JOURNAL   Sci Rep 11 (1), 24254 (2021)
   PUBMED   34930932
  REMARK    GeneRIF: MYCL promotes iPSC-like colony formation via MYC Box 0 and
            2 domains. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3522)
  AUTHORS   Qin J, Xie F, Li C, Han N and Lu H.
  TITLE     MYCL1 Amplification and Expression of L-Myc and c-Myc in Surgically
            Resected Small-Cell Lung Carcinoma
  JOURNAL   Pathol Oncol Res 27, 1609775 (2021)
   PUBMED   34257619
  REMARK    GeneRIF: MYCL1 Amplification and Expression of L-Myc and c-Myc in
            Surgically Resected Small-Cell Lung Carcinoma. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3522)
  AUTHORS   FitzGerald MJ, Arsura M, Bellas RE, Yang W, Wu M, Chin L, Mann KK,
            DePinho RA and Sonenshein GE.
  TITLE     Differential effects of the widely expressed dMax splice variant of
            Max on E-box vs initiator element-mediated regulation by c-Myc
  JOURNAL   Oncogene 18 (15), 2489-2498 (1999)
   PUBMED   10229200
REFERENCE   5  (bases 1 to 3522)
  AUTHORS   Speleman F, Van Camp G and Van Roy N.
  TITLE     Reassignment of MYCL1 to human chromosome 1p34.3 by fluorescence in
            situ hybridization
  JOURNAL   Cytogenet Cell Genet 72 (2-3), 189-190 (1996)
   PUBMED   8978772
REFERENCE   6  (bases 1 to 3522)
  AUTHORS   Atchley WR and Fitch WM.
  TITLE     Myc and Max: molecular evolution of a family of proto-oncogene
            products and their dimerization partner
  JOURNAL   Proc Natl Acad Sci U S A 92 (22), 10217-10221 (1995)
   PUBMED   7479755
REFERENCE   7  (bases 1 to 3522)
  AUTHORS   Ikegaki N, Minna J and Kennett RH.
  TITLE     The human L-myc gene is expressed as two forms of protein in small
            cell lung carcinoma cell lines: detection by monoclonal antibodies
            specific to two myc homology box sequences
  JOURNAL   EMBO J 8 (6), 1793-1799 (1989)
   PUBMED   2548855
REFERENCE   8  (bases 1 to 3522)
  AUTHORS   De Greve J, Battey J, Fedorko J, Birrer M, Evan G, Kaye F, Sausville
            E and Minna J.
  TITLE     The human L-myc gene encodes multiple nuclear phosphoproteins from
            alternatively processed mRNAs
  JOURNAL   Mol Cell Biol 8 (10), 4381-4388 (1988)
   PUBMED   3054516
REFERENCE   9  (bases 1 to 3522)
  AUTHORS   Kaye F, Battey J, Nau M, Brooks B, Seifter E, De Greve J, Birrer M,
            Sausville E and Minna J.
  TITLE     Structure and expression of the human L-myc gene reveal a complex
            pattern of alternative mRNA processing
  JOURNAL   Mol Cell Biol 8 (1), 186-195 (1988)
   PUBMED   2827002
REFERENCE   10  (bases 1 to 3522)
  AUTHORS   DePinho RA, Hatton KS, Tesfaye A, Yancopoulos GD and Alt FW.
  TITLE     The human myc gene family: structure and activity of L-myc and an
            L-myc pseudogene
  JOURNAL   Genes Dev 1 (10), 1311-1326 (1987)
   PUBMED   3322939
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.188700.1,
            SRR1660807.29451.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000372816.3/ ENSP00000361903.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL033527.26 and AI144219.1.
            On Nov 23, 2018 this sequence version replaced NM_001033081.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3522
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..3522
                     /gene="MYCL"
                     /gene_synonym="bHLHe38; L-Myc; LMYC; MYCL1"
                     /note="MYCL proto-oncogene, bHLH transcription factor"
                     /db_xref="GeneID:4610"
                     /db_xref="HGNC:HGNC:7555"
                     /db_xref="MIM:164850"
     misc_feature    310..312
                     /gene="MYCL"
                     /gene_synonym="bHLHe38; L-Myc; LMYC; MYCL1"
                     /note="upstream in-frame stop codon"
     CDS             484..1578
                     /gene="MYCL"
                     /gene_synonym="bHLHe38; L-Myc; LMYC; MYCL1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     myc-related gene from lung cancer; l-myc-1 proto-oncogene;
                     protein L-Myc-1; class E basic helix-loop-helix protein 38;
                     v-myc myelocytomatosis viral oncogene homolog 1, lung
                     carcinoma derived; v-myc avian myelocytomatosis viral
                     oncogene lung carcinoma derived homolog"
                     /codon_start=1
                     /product="protein L-Myc isoform 1"
                     /protein_id="NP_001028253.1"
                     /db_xref="CCDS:CCDS30682.1"
                     /db_xref="GeneID:4610"
                     /db_xref="HGNC:HGNC:7555"
                     /db_xref="MIM:164850"
                     /translation="MDYDSYQHYFYDYDCGEDFYRSTAPSEDIWKKFELVPSPPTSPPW
                     GLGPGAGDPAPGIGPPEPWPGGCTGDEAESRGHSKGWGRNYASIIRRDCMWSGFSARER
                     LERAVSDRLAPGAPRGNPPKASAAPDCTPSLEAGNPAPAAPCPLGEPKTQACSGSESPS
                     DSENEEIDVVTVEKRQSLGIRKPVTITVRADPLDPCMKHFHISIHQQQHNYAARFPPES
                     CSQEEASERGPQEEVLERDAAGEKEDEEDEEIVSPPPVESEAAQSCHPKPVSSDTEDVT
                     KRKNHNFLERKRRNDLRSRFLALRDQVPTLASCSKAPKVVILSKALEYLQALVGAEKRM
                     ATEKRQLRCRQQQLQKRIAYLTGY"
     misc_feature    604..726
                     /gene="MYCL"
                     /gene_synonym="bHLHe38; L-Myc; LMYC; MYCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (P12524.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    814..999
                     /gene="MYCL"
                     /gene_synonym="bHLHe38; L-Myc; LMYC; MYCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (P12524.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1138..1338
                     /gene="MYCL"
                     /gene_synonym="bHLHe38; L-Myc; LMYC; MYCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (P12524.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1480..1566
                     /gene="MYCL"
                     /gene_synonym="bHLHe38; L-Myc; LMYC; MYCL1"
                     /note="propagated from UniProtKB/Swiss-Prot (P12524.2);
                     Region: Leucine-zipper"
     regulatory      3503..3508
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYCL"
                     /gene_synonym="bHLHe38; L-Myc; LMYC; MYCL1"
                     /note="hexamer: AATAAA"
     polyA_site      3522
                     /gene="MYCL"
                     /gene_synonym="bHLHe38; L-Myc; LMYC; MYCL1"
                     /note="major polyA site"
ORIGIN
        1 gagtgcgggc cgcgctctcg gcggcgcgca tgtgcgtgtg tgctggctgc cgggctgccc
       61 cgagccggcg gggagccggt ccgctccagg tggcgggcgg ctggagcgag gtgaggctgc
      121 gggtggccag ggcacgggcg cgggtcccgc ggtgcgggct ggctgcaggc tgccttctgg
      181 gcacggcgcg cccccgcccg gccccgccgg gccctgggag ctgcgctccg ggcggcgctg
      241 gcaaagtttg ctttgaactc gctgcccaca gtcgggtccg cgcgctgcga ttggcttccc
      301 ctaccactct gacccggggc ccggcttccc gggacgcgag gactgggcgc aggctgcaag
      361 ctggtggggt tggggaggaa cgagagcccg gcagccgact gtgccgaggg acccggggac
      421 acctccttcg cccggccggc acccggtcag cacgtccccc cttccctccc gcagggagcg
      481 gacatggact acgactcgta ccagcactat ttctacgact atgactgcgg ggaggatttc
      541 taccgctcca cggcgcccag cgaggacatc tggaagaaat tcgagctggt gccatcgccc
      601 cccacgtcgc cgccctgggg cttgggtccc ggcgcagggg acccggcccc cgggattggt
      661 cccccggagc cgtggcccgg agggtgcacc ggagacgaag cggaatcccg gggccactcg
      721 aaaggctggg gcaggaacta cgcctccatc atacgccgtg actgcatgtg gagcggcttc
      781 tcggcccggg aacggctgga gagagctgtg agcgaccggc tcgctcctgg cgcgccccgg
      841 gggaacccgc ccaaggcgtc cgccgccccg gactgcactc ccagcctcga agccggcaac
      901 ccggcgcccg ccgccccctg tccgctgggc gaacccaaga cccaggcctg ctccgggtcc
      961 gagagcccaa gcgactcgga gaatgaagaa attgatgttg tgacagtaga gaagaggcag
     1021 tctctgggta ttcggaagcc ggtcaccatc acggtgcgag cagaccccct ggatccctgc
     1081 atgaagcatt tccacatctc catccatcag caacagcaca actatgctgc ccgttttcct
     1141 ccagaaagct gctcccaaga agaggcttca gagaggggtc cccaagaaga ggttctggag
     1201 agagatgctg caggggaaaa ggaagatgag gaggatgaag agattgtgag tcccccacct
     1261 gtagaaagtg aggctgccca gtcctgccac cccaaacctg tcagttctga tactgaggat
     1321 gtgaccaaga ggaagaatca caacttcctg gagcgcaaga ggcggaatga cctgcgttcg
     1381 cgattcttgg cgctgaggga ccaggtgccc accctggcca gctgctccaa ggcccccaaa
     1441 gtagtgatcc taagcaaggc cttggaatac ttgcaagccc tggtgggggc tgagaagagg
     1501 atggctacag agaaaagaca gctccgatgc cggcagcagc agttgcagaa aagaattgca
     1561 tacctcactg gctactaact gaccaaaaag cctgacagtt ctgtcttacg aagacacaag
     1621 tttatttttt aacctccctc tcccctttag taatttgcac attttggtta tggtgggaca
     1681 gtctggacag tagatcccag aatgcattgc agccggtgca cacacaataa aggcttgcat
     1741 tcttggaaac cttgaaaccc agctctccct cttccctgac tcatgggagt gctgtatgtt
     1801 ctctggcgcc tttggcttcc cagcaggcag ctgactgagg agccttgggg tctgcctagc
     1861 tcactagctc tgaagaaaag gctgacagat gctatgcaac aggtggtgga tgttgtcagg
     1921 ggctccagcc tgcatgaaat ctcacactct gcatgagctt taggctagga aaggatgctc
     1981 ccaactggtg tctctggggt gatgcaagga cagctgggcc tggatgctct ccctgaggct
     2041 cctttttcca gaagacacac gagctgtctt gggtgaagac aagcttgcag acttgatcaa
     2101 cattgaccat tacctcactg tcagacactt tacagtagcc aaggagttgg aaacctttat
     2161 atattatgat gttagctgac ccccttcctc ccactcccaa tgctgcgacc ctgggaacac
     2221 ttaaaaagct tggcctctag attctttgtc tcagagccct ctgggctctc tcctctgagg
     2281 gagggacctt tctttcctca caagggactt ttttgttcca ttatgccttg ttatgcaatg
     2341 ggctctacag caccctttcc cacaggtcag aaatatttcc ccaagacaca gggaaatcgg
     2401 tcctagcctg gggcctgggg atagcttgga gtcctggccc atgaacttga tccctgccca
     2461 ggtgttttcc gaggggcact tgaggcccag tcttttctca aggcaggtgt aagacacctc
     2521 agagggagaa ctgtactgct gcctctttcc cacctgcctc atctcaatcc ttgagcggca
     2581 agtttgaagt tcttctggaa ccatgcaaat ctgtcctcct catgcaattc caaggagctt
     2641 gctggctctg cagccaccct tgggcccctt ccagcctgcc atgaatcaga tatctttccc
     2701 agaatctggg cgtttctgaa gttttgggga gagctgttgg gactcatcca gtgctccaga
     2761 aggtggactt gcttctggtg ggttttaaag gagcctccag gagatatgct tagccaacca
     2821 tgatggattt taccccagct ggactcggca gctccaagtg gaatccacgt gcagcttcta
     2881 gtctgggaaa gtcacccaac ctagcagttg tcatgtgggt aacctcaggc acctctaagc
     2941 ctgtcctgga agaaggacca gcagcccctc cagaactctg cccaggacag caggtgcctg
     3001 ctggctctgg gtttggaagt tggggtgggt agggggtggt aagtactata tatggctctg
     3061 gaaaaccagc tgctacttcc aaatctattg tccataatgg tttctttctg aggttgcttc
     3121 ttggcctcag aggaccccag gggatgtttg gaaatagcct ctctaccctt ctggagcatg
     3181 gtttacaaaa gccagctgac ttctggaatt gtctatggag gacagtttgg gtgtaggtta
     3241 ctgatgtctc aactgaatag cttgtgtttt ataagctgct gttggctatt atgctggggg
     3301 agtctttttt ttttatattg tatttttgta tgccttttgc aaagtggtgt taactgtttt
     3361 tgtacaagga aaaaaactct tggggcaatt tcctgttgca agggtctgat ttattttgaa
     3421 aggcaagttc acctgaaatt ttgtatttag ttgtgattac tgattgcctg attttaaaat
     3481 gttgccttct gggacatctt ctaataaaag atttctcaaa ca
//
LOCUS       NM_001033088            1340 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens neugrin, neurite outgrowth associated (NGRN),
            transcript variant 2, mRNA.
ACCESSION   NM_001033088
VERSION     NM_001033088.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1340)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1340)
  AUTHORS   Arroyo JD, Jourdain AA, Calvo SE, Ballarano CA, Doench JG, Root DE
            and Mootha VK.
  TITLE     A Genome-wide CRISPR Death Screen Identifies Genes Essential for
            Oxidative Phosphorylation
  JOURNAL   Cell Metab 24 (6), 875-885 (2016)
   PUBMED   27667664
REFERENCE   3  (bases 1 to 1340)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   4  (bases 1 to 1340)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein C,
            Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   5  (bases 1 to 1340)
  AUTHORS   Ishigaki S, Niwa J, Yoshihara T, Mitsuma N, Doyu M and Sobue G.
  TITLE     Two novel genes, human neugrin and mouse m-neugrin, are upregulated
            with neuronal differentiation in neuroblastoma cells
  JOURNAL   Biochem Biophys Res Commun 279 (2), 526-533 (2000)
   PUBMED   11118320
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853559.11631.1, BC096824.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379095.5/ ENSP00000368389.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC091167.19.
            On Nov 30, 2019 this sequence version replaced NM_001033088.2.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1340
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     gene            1..1340
                     /gene="NGRN"
                     /gene_synonym="DSC92"
                     /note="neugrin, neurite outgrowth associated"
                     /db_xref="GeneID:51335"
                     /db_xref="HGNC:HGNC:18077"
                     /db_xref="MIM:616718"
     misc_feature    21..23
                     /gene="NGRN"
                     /gene_synonym="DSC92"
                     /note="upstream in-frame stop codon"
     CDS             42..917
                     /gene="NGRN"
                     /gene_synonym="DSC92"
                     /note="neurite outgrowth associated protein; mesenchymal
                     stem cell protein DSC92; spinal cord-derived protein FI58G"
                     /codon_start=1
                     /product="neugrin precursor"
                     /protein_id="NP_001028260.2"
                     /db_xref="CCDS:CCDS32329.1"
                     /db_xref="GeneID:51335"
                     /db_xref="HGNC:HGNC:18077"
                     /db_xref="MIM:616718"
                     /translation="MAVTLSLLLGGRVCAAVTRCGFATRGVAGPGPIGREPDPDSDWEP
                     EERELQEVESTLKRQKQAIRFQKIRRQMEAPGAPPRTLTWEAMEQIRYLHEEFPESWSV
                     PRLAEGFDVSTDVIRRVLKSKFLPTLEQKLKQDQKVLKKAGLAHSLQHLRGSGNTSKLL
                     PAGHSVSGSLLMPGHEASSKDPNHSTALKVIESDTHRTNTPRRRKGRNKEIQDLEESFV
                     PVAAPLGHPRELQKYSSDSESPRGTGSGALPSGQKLEELKAEEPDNFSSKVVQRGREFF
                     DSNGNFLYRI"
     sig_peptide     42..86
                     /gene="NGRN"
                     /gene_synonym="DSC92"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    117..185
                     /gene="NGRN"
                     /gene_synonym="DSC92"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPE2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    162..164
                     /gene="NGRN"
                     /gene_synonym="DSC92"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9NPE2.2); phosphorylation site"
     misc_feature    504..851
                     /gene="NGRN"
                     /gene_synonym="DSC92"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPE2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    513..515
                     /gene="NGRN"
                     /gene_synonym="DSC92"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9NPE2.2); glycosylation site"
     misc_feature    597..599
                     /gene="NGRN"
                     /gene_synonym="DSC92"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9NPE2.2); glycosylation site"
     misc_feature    843..845
                     /gene="NGRN"
                     /gene_synonym="DSC92"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9NPE2.2); glycosylation site"
     regulatory      1319..1324
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NGRN"
                     /gene_synonym="DSC92"
                     /note="hexamer: AATAAA"
     polyA_site      1340
                     /gene="NGRN"
                     /gene_synonym="DSC92"
                     /note="major polyA site"
ORIGIN
        1 gctgtttcgt agccgactgc tgaaggctgg tttgcgtcga catggcggtt accctgagtc
       61 tcttgctggg cgggcgcgtt tgcgccgccg tcactcgctg tgggttcgcg acccgggggg
      121 tggcgggccc aggccctatt ggccgggagc cggaccccga ttccgactgg gagccggagg
      181 aacgggagct gcaggaggtg gagagcaccc tgaaacgaca gaaacaagca atccgattcc
      241 agaaaattcg gaggcaaatg gaggcgcctg gtgccccgcc caggaccctg acgtgggaag
      301 ccatggagca gatacggtat ttacatgagg aatttccaga gtcctggtca gttcccaggt
      361 tggctgaagg ctttgatgtc agcactgatg tgatccgaag agttttaaaa agcaagtttt
      421 tacccacatt ggagcagaag ctgaagcagg atcaaaaagt ccttaagaaa gctgggcttg
      481 cccactcgct gcagcacctc cggggctctg gaaatacctc aaagctgctc cctgcaggcc
      541 actctgtatc aggctctttg cttatgccag ggcatgaagc ctcatctaaa gacccaaatc
      601 acagcacagc tttgaaagtg atagagtcag acactcacag gacaaataca ccaaggagaa
      661 ggaagggaag aaataaagaa atccaggacc tggaggagag ctttgtgcct gttgctgcac
      721 ccctaggtca tccaagagag ctgcagaagt actccagtga ttctgagagc cccagaggaa
      781 ctggcagtgg tgcgttgcca agtggtcaga agctggagga gttgaaggca gaggagccag
      841 ataacttcag cagcaaagta gtgcagaggg gccgagagtt ctttgacagc aacgggaact
      901 tcctgtacag aatttgagtc ggggcttggc ttatggagat gcctcgtgaa acacagctgg
      961 gcaagtatta atgtatatgg aacagcctgg atttctgcat atggataagc caccttggaa
     1021 taggaagagg tgttgagcct ggactgtggg aggaaagagc tgcgtggata gattcaaact
     1081 tcctgtggta gtgctcccag tctgacctct gtagaccttc agtactcact cttcttgctt
     1141 aggctctctg tgtgttgaaa gccatcccgt gttgcatgtg ttgttacaat tttctgtgat
     1201 acttgcaatt tatgtttgag aagaagtgaa aagtttgcct tctgacctca tttccttctt
     1261 gatcagtgaa cactaacatt ttggggacaa cttagtcaat tggttttcct tacaacaaaa
     1321 taaagtaaaa tgtagcagtc
//
LOCUS       NM_001033113            2130 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8
            (ENTPD8), transcript variant 1, mRNA.
ACCESSION   NM_001033113
VERSION     NM_001033113.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2130)
  AUTHORS   Munkonda MN, Kauffenstein G, Kukulski F, Levesque SA, Legendre C,
            Pelletier J, Lavoie EG, Lecka J and Sevigny J.
  TITLE     Inhibition of human and mouse plasma membrane bound NTPDases by P2
            receptor antagonists
  JOURNAL   Biochem Pharmacol 74 (10), 1524-1534 (2007)
   PUBMED   17727821
REFERENCE   2  (bases 1 to 2130)
  AUTHORS   Fausther M, Lecka J, Kukulski F, Levesque SA, Pelletier J,
            Zimmermann H, Dranoff JA and Sevigny J.
  TITLE     Cloning, purification, and identification of the liver canalicular
            ecto-ATPase as NTPDase8
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 292 (3), G785-G795 (2007)
   PUBMED   17095758
  REMARK    GeneRIF: NTPDase8 is the canalicular ecto-ATPase/ATPDase and is
            responsible for the main hepatic NTPDase activity.
REFERENCE   3  (bases 1 to 2130)
  AUTHORS   Knowles AF and Li C.
  TITLE     Molecular cloning and characterization of expressed human
            ecto-nucleoside triphosphate diphosphohydrolase 8 (E-NTPDase 8) and
            its soluble extracellular domain
  JOURNAL   Biochemistry 45 (23), 7323-7333 (2006)
   PUBMED   16752921
REFERENCE   4  (bases 1 to 2130)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.2862998.1,
            SRR11853562.32674.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA1968832
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371506.7/ ENSP00000360561.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX322799.22.
            On Aug 22, 2019 this sequence version replaced NM_001033113.1.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2130
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..2130
                     /gene="ENTPD8"
                     /gene_synonym="E-NTPDase; GLSR2492; NTPDase-8; UNQ2492"
                     /note="ectonucleoside triphosphate diphosphohydrolase 8"
                     /db_xref="GeneID:377841"
                     /db_xref="HGNC:HGNC:24860"
                     /db_xref="MIM:616748"
     misc_feature    24..26
                     /gene="ENTPD8"
                     /gene_synonym="E-NTPDase; GLSR2492; NTPDase-8; UNQ2492"
                     /note="upstream in-frame stop codon"
     CDS             93..1580
                     /gene="ENTPD8"
                     /gene_synonym="E-NTPDase; GLSR2492; NTPDase-8; UNQ2492"
                     /EC_number="3.6.1.5"
                     /note="isoform 1 is encoded by transcript variant 1; liver
                     ecto-ATP-diphosphohydrolase; E-NTPDase 8"
                     /codon_start=1
                     /product="ectonucleoside triphosphate diphosphohydrolase 8
                     isoform 1"
                     /protein_id="NP_001028285.1"
                     /db_xref="CCDS:CCDS43913.1"
                     /db_xref="GeneID:377841"
                     /db_xref="HGNC:HGNC:24860"
                     /db_xref="MIM:616748"
                     /translation="MGLSRKEQVFLALLGASGVSGLTALILLLVEATSVLLPTDIKFGI
                     VFDAGSSHTSLFLYQWLANKENGTGVVSQALACQVEGPGISSYTSNAAQAGESLQGCLE
                     EALVLIPEAQHRKTPTFLGATAGMRLLSRKNSSQARDIFAAVTQVLGRSPVDFWGAELL
                     AGQAEGAFGWITVNYGLGTLVKYSFTGEWIQPPEEMLVGALDMGGASTQITFVPGGPIL
                     DKSTQADFRLYGSDYSVYTHSYLCFGRDQMLSRLLVGLVQSRPAALLRHPCYLSGYQTT
                     LALGPLYESPCVHATPPLSLPQNLTVEGTGNPGACVSAIRELFNFSSCQGQEDCAFDGV
                     YQPPLRGQFYAFSNFYYTFHFLNLTSRQPLSTVNATIWEFCQRPWKLVEASYPGQDRWL
                     RDYCASGLYILTLLHEGYGFSEETWPSLEFRKQAGGVDIGWTLGYMLNLTGMIPADAPA
                     QWRAESYGVWVAKVVFMVLALVAVVGAALVQLFWLQD"
     misc_feature    117..179
                     /gene="ENTPD8"
                     /gene_synonym="E-NTPDase; GLSR2492; NTPDase-8; UNQ2492"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MY95.2);
                     transmembrane region"
     misc_feature    291..293
                     /gene="ENTPD8"
                     /gene_synonym="E-NTPDase; GLSR2492; NTPDase-8; UNQ2492"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5MY95.2); glycosylation site"
     misc_feature    1002..1004
                     /gene="ENTPD8"
                     /gene_synonym="E-NTPDase; GLSR2492; NTPDase-8; UNQ2492"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5MY95.2); glycosylation site"
     misc_feature    1179..1181
                     /gene="ENTPD8"
                     /gene_synonym="E-NTPDase; GLSR2492; NTPDase-8; UNQ2492"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5MY95.2); glycosylation site"
     misc_feature    1506..1568
                     /gene="ENTPD8"
                     /gene_synonym="E-NTPDase; GLSR2492; NTPDase-8; UNQ2492"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MY95.2);
                     transmembrane region"
     regulatory      2107..2112
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENTPD8"
                     /gene_synonym="E-NTPDase; GLSR2492; NTPDase-8; UNQ2492"
                     /note="hexamer: ATTAAA"
     polyA_site      2130
                     /gene="ENTPD8"
                     /gene_synonym="E-NTPDase; GLSR2492; NTPDase-8; UNQ2492"
                     /note="major polyA site"
ORIGIN
        1 aggtgcgcgg acacagaagc gtctaagcac agcttcctcc ttgccgctcc gggaagtggg
       61 cagccagccc aggaaccagt accacctgca ccatggggct gtcccggaag gagcaggtct
      121 tcttggccct gctgggggcc tcgggggtct caggcctcac ggcactcatt ctcctcctgg
      181 tggaggccac cagcgtgctc ctgcccacag acatcaagtt tgggatcgtg tttgatgcgg
      241 gctcctccca cacgtccctc ttcctgtatc agtggctggc gaacaaggag aatggcacgg
      301 gtgtggtcag ccaggccctg gcctgccagg tggaagggcc tggaatctcc tcctacactt
      361 ctaatgctgc acaggctggt gagagcctgc agggctgctt ggaggaggcg ctggtgctga
      421 tcccagaggc ccagcatcgg aaaacaccca cgttcctggg ggccacggct ggcatgaggt
      481 tgctcagccg gaagaacagc tctcaggcca gggacatctt tgcagcagtc acccaggtcc
      541 tgggccggtc tcccgtggac ttttggggtg ccgagctcct ggccgggcag gccgaaggtg
      601 cctttggttg gatcactgtc aactacggct tggggacgct ggtcaagtac tccttcactg
      661 gagaatggat ccagcctccg gaggagatgc tggtgggtgc cctggacatg ggaggggcct
      721 ccacccagat cacgttcgtg cctgggggcc ccatcttgga caagagcacc caggccgatt
      781 ttcgcctcta cggctccgac tacagcgtct acactcacag ctacctgtgc tttggacggg
      841 accagatgct gagcaggctc ctcgtggggc tggtacagag ccgcccggct gccctgctcc
      901 gtcacccgtg ctacctcagc ggctaccaga ccacactggc cctgggcccg ctgtatgagt
      961 caccctgtgt ccacgccacg cccccgctga gcctccccca gaacctcaca gttgaaggga
     1021 caggcaaccc tggagcctgc gtctcagcca tccgggaact tttcaacttc tccagctgcc
     1081 agggccagga ggactgcgcc tttgacgggg tctaccagcc cccgctgcgg ggccagttct
     1141 atgccttctc caacttctac tacaccttcc acttcctgaa cctcacctcc aggcagcccc
     1201 tgagcacggt caacgccacc atctgggagt tttgccagag gccctggaaa ctggtggagg
     1261 ccagctaccc tgggcaggac cgctggctgc gggactactg tgcctcaggc ctgtacatcc
     1321 tcaccctcct gcacgagggc tacgggttca gcgaggagac ctggcccagc ctcgagttcc
     1381 gaaagcaggc gggcggtgtg gacattggct ggacactggg ctacatgctg aacctgaccg
     1441 ggatgatccc ggccgatgcg ccggctcagt ggcgggcaga gagctacggc gtctgggtgg
     1501 ccaaagtggt gttcatggtg ctggccctgg tggcggtggt gggggctgcc ttggtccagc
     1561 tcttctggtt gcaggactag tgggaaggcg gaggtgggcc cccacagagc ccacaggcag
     1621 ctgcgtcccg gatgctggag gcttcctgag ccctgagcgc cgtggggcct tgctctgtgg
     1681 ctctgcccac ggtcaggtga cagccacctc cagggcaccg tcagggtggt gctggccaca
     1741 gaggctgcat gacctcccct cccggcgtcc ctcccccaac ctccttccgc aactgggctt
     1801 ccagggccgt aggtgccttt ctgcacacag gccgccagga ctcgtggtgt ctccaggctg
     1861 tgtgactgca gggccacatg ctgcctgcaa acagggcaag accacggagg cacaggggtc
     1921 ctgctcctga tggggcctca ggaggggcgg agaggggtgg aagggaggga gctgccccac
     1981 ctggaccccc gctctccctg ctgttgtctg agcagatgga tggagtccag gcctgggggc
     2041 ttctgctggg ccagcccggc ctcccacacc cacttggagg gtgagactgc agtgggggtt
     2101 gtttttatta aaagcatcat ggacacagca
//
LOCUS       NM_001033561            4506 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1,
            mRNA.
ACCESSION   NM_001033561
VERSION     NM_001033561.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4506)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   2  (bases 1 to 4506)
  AUTHORS   Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA,
            Weisswange I, Mansfeld J, Buchholz F, Hyman AA and Mann M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   3  (bases 1 to 4506)
  AUTHORS   Xie T, Graveline R, Kumar GS, Zhang Y, Krishnan A, David G and
            Radhakrishnan I.
  TITLE     Structural basis for molecular interactions involving MRG domains:
            implications in chromatin biology
  JOURNAL   Structure 20 (1), 151-160 (2012)
   PUBMED   22244764
REFERENCE   4  (bases 1 to 4506)
  AUTHORS   Park SY, Gupta D, Hurwich R, Kim CH and Dziarski R.
  TITLE     Peptidoglycan recognition protein Pglyrp2 protects mice from
            psoriasis-like skin inflammation by promoting regulatory T cells and
            limiting Th17 responses
  JOURNAL   J Immunol 187 (11), 5813-5823 (2011)
   PUBMED   22048773
REFERENCE   5  (bases 1 to 4506)
  AUTHORS   Kaadige MR and Ayer DE.
  TITLE     The polybasic region that follows the plant homeodomain zinc finger
            1 of Pf1 is necessary and sufficient for specific phosphoinositide
            binding
  JOURNAL   J Biol Chem 281 (39), 28831-28836 (2006)
   PUBMED   16893883
REFERENCE   6  (bases 1 to 4506)
  AUTHORS   Nousiainen M, Sillje HH, Sauer G, Nigg EA and Korner R.
  TITLE     Phosphoproteome analysis of the human mitotic spindle
  JOURNAL   Proc Natl Acad Sci U S A 103 (14), 5391-5396 (2006)
   PUBMED   16565220
REFERENCE   7  (bases 1 to 4506)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J,
            Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   8  (bases 1 to 4506)
  AUTHORS   Yochum GS and Ayer DE.
  TITLE     Role for the mortality factors MORF4, MRGX, and MRG15 in
            transcriptional repression via associations with Pf1, mSin3A, and
            Transducin-Like Enhancer of Split
  JOURNAL   Mol Cell Biol 22 (22), 7868-7876 (2002)
   PUBMED   12391155
REFERENCE   9  (bases 1 to 4506)
  AUTHORS   Yochum GS and Ayer DE.
  TITLE     Pf1, a novel PHD zinc finger protein that links the TLE corepressor
            to the mSin3A-histone deacetylase complex
  JOURNAL   Mol Cell Biol 21 (13), 4110-4118 (2001)
   PUBMED   11390640
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK291420.1, SRR7346977.1840471.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000332830.9/ ENSP00000329933.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC024267.18, AY030283.1, AL161953.1 and AB040956.1.
            On Nov 22, 2018 this sequence version replaced NM_001033561.1.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4506
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..4506
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="PHD finger protein 12"
                     /db_xref="GeneID:57649"
                     /db_xref="HGNC:HGNC:20816"
                     /db_xref="MIM:618645"
     misc_feature    556..558
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="upstream in-frame stop codon"
     CDS             559..3573
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="isoform 1 is encoded by transcript variant 1; PHD
                     zinc finger transcription factor; PHD factor 1"
                     /codon_start=1
                     /product="PHD finger protein 12 isoform 1"
                     /protein_id="NP_001028733.1"
                     /db_xref="CCDS:CCDS32598.1"
                     /db_xref="GeneID:57649"
                     /db_xref="HGNC:HGNC:20816"
                     /db_xref="MIM:618645"
                     /translation="MWEKMETKTIVYDLDTSGGLMEQIQALLAPPKTDEAEKRSRKPEK
                     EPRRSGRATNHDSCDSCKEGGDLLCCDHCPAAFHLQCCNPPLSEEMLPPGEWMCHRCTV
                     RRKKREQKKELGHVNGLVDKSGKRTTSPSSDTDLLDRSASKTELKAIAHARILERRASR
                     PGTPTSSASTETPTSEQNDVDEDIIDVDEEPVAAEPDYVQPQLRRPFELLIAAAMERNP
                     TQFQLPNELTCTTALPGSSKRRRKEETTGKNVKKTQHELDHNGLVPLPVKVCFTCNRSC
                     RVAPLIQCDYCPLLFHMDCLEPPLTAMPLGRWMCPNHIEHVVLNQKNMTLSNRCQVFDR
                     FQDTVSQHVVKVDFLNRIHKKHPPNRRVLQSVKRRSLKVPDAIKSQYQFPPPLIAPAAI
                     RDGELICNGIPEESQMHLLNSEHLATQAEQQEWLCSVVALQCSILKHLSAKQMPSHWDS
                     EQTEKADIKPVIVTDSSVTTSLQTADKTPTPSHYPLSCPSGISTQNSLSCSPPHQSPAL
                     EDIGCSSCAEKSKKTPCGTANGPVNTEVKANGPHLYSSPTDSTDPRRLPGANTPLPGLS
                     HRQGWPRPLTPPAAGGLQNHTVGIIVKTENATGPSSCPQRSLVPVPSLPPSIPSSCASI
                     ENTSTLQRKTVQSQIGPPLTDSRPLGSPPNATRVLTPPQAAGDGILATTANQRFSSPAP
                     SSDGKVSPGTLSIGSALTVPSFPANSTAMVDLTNSLRAFMDVNGEIEINMLDEKLIKFL
                     ALQRIHQLFPSRVQPSPGSVGTHQLASGGHHIEVQRKEVQARAVFYPLLGLGGAVNMCY
                     RTLYIGTGADMDVCLTNYGHCNYVSGKHACIFYDENTKHYELLNYSEHGTTVDNVLYSC
                     DFSEKTPPTPPSSIVAKVQSVIRRRRHQKQDEEPSEEAAMMSSQAQGPQRRPCNCKASS
                     SSLIGGSGAGWEGTALLHHGSYIKLGCLQFVFSITEFATKQPKGDASLLQDGVLAEKLS
                     LKPHQGPVLRSNSVP"
     misc_feature    640..735
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QT6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    862..1377
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QT6.2);
                     Region: Interaction with SIN3A.
                     /evidence=ECO:0000269|PubMed:11390640"
     misc_feature    871..942
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QT6.2);
                     Region: PBR"
     misc_feature    895..984
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QT6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    949..951
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96QT6.2); phosphorylation site"
     misc_feature    958..960
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q96QT6.2); phosphorylation site"
     misc_feature    1018..1119
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QT6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1258..1329
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QT6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1456..2670
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QT6.2);
                     Region: Interaction with SIN3A.
                     /evidence=ECO:0000269|PubMed:11390640"
     misc_feature    2146..2298
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QT6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2221..2223
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96QT6.2); phosphorylation site"
     misc_feature    2227..2229
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96QT6.2); phosphorylation site"
     misc_feature    2266..2268
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96QT6.2); phosphorylation site"
     misc_feature    2479..2577
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QT6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2569..2571
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96QT6.2); phosphorylation site"
     misc_feature    3241..3327
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96QT6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3988..3993
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="hexamer: AATACA"
     polyA_site      4010
                     /gene="PHF12"
                     /gene_synonym="PF1"
     regulatory      4490..4495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="hexamer: AACAAA"
     polyA_site      4506
                     /gene="PHF12"
                     /gene_synonym="PF1"
                     /note="major polyA site"
ORIGIN
        1 ggcgagcgcc gatcccgggg cgcctgcgcg ggtggctttg cgggcgctcg cggtaagttt
       61 gcgccaagtg cgcggcagcc gggacgcaga cggcggcggc ggcgagaggc ggagcccggg
      121 gaccaccccc catcaccctc cccccagtca cctcacgtac cacaacctca cgtaacctct
      181 caccccccct ccgatacccc cagccccggg atggcagcgc ccgccagcct tcccggccgg
      241 accggctgtc gccagtgccg gctttagcct gtgggactag gccccgccga ggcctgaccc
      301 ccggagccgg gacccactgt gcagccagca gccgggccgg gactgagggg ccgctccccc
      361 ctcgcggccc gtcgggagga cgctgtcgtc ccggggactg ggggccgggg ggtggggggg
      421 agccagggcg aggaagtcgg gacccgtatt gggaaaaaag cggggccggg gtcaggagcg
      481 ccccctcccc tcacctcccc cctccccccg gggttggggg ggccggagca gagagcaccc
      541 agcccgggag gtggatgaat gtgggagaaa atggagacca agacgatcgt gtacgacttg
      601 gacacatcag gggggctgat ggagcaaatc caagctctgc tggctccccc caagacggac
      661 gaggcagaaa agcgcagtcg gaagcctgag aaggagcccc ggagaagcgg cagggccacc
      721 aaccacgaca gctgcgatag ctgcaaggaa ggtggagatc tcctgtgctg cgaccactgc
      781 ccggctgcct tccacctcca gtgctgtaac cctccactga gtgaagaaat gttgcctcct
      841 ggagagtgga tgtgtcaccg gtgcactgtt cgccgaaaga aacgagagca gaaaaaggag
      901 ctgggtcatg tcaatggact ggtggacaaa tctggcaaac ggactacatc ccccagcagt
      961 gacactgact tgttggacag atcggccagc aaaactgaac taaaggccat tgcccatgcc
     1021 cggatcctgg aaaggagagc cagcaggcct ggcacaccca catccagcgc cagcacagag
     1081 actcccacct ctgagcagaa tgatgtcgac gaagacatca ttgacgtgga tgaggaacca
     1141 gtagcagcgg agccagacta tgtgcagccc cagctgaggc ggccctttga gctgctgatt
     1201 gctgccgcca tggagcggaa ccccacccaa tttcagttgc ccaatgaact gacttgtacc
     1261 actgcactac caggttctag caagaggaga agaaaggagg aaaccacagg gaaaaatgtt
     1321 aagaagacac agcatgaatt agatcacaat ggtctcgttc ccttacccgt caaagtctgc
     1381 ttcacgtgta acaggagttg ccgtgtggct cctctcatcc agtgtgacta ttgccctctc
     1441 ctgtttcaca tggattgcct cgagccgccg ctcactgcca tgcccctggg cagatggatg
     1501 tgtccgaatc acatcgaaca tgtggtgctg aaccagaaga atatgacact gagcaatcgg
     1561 tgccaggtgt ttgatcgttt ccaggacacc gtttcgcagc atgtcgtcaa agtggacttc
     1621 ctgaaccgaa tccacaagaa gcacccccct aaccggcgtg tgctccagtc ggtcaaaaga
     1681 agaagcttga aggttcctga tgctataaaa tctcagtacc agtttccacc ccctctcatt
     1741 gcacccgcgg ccattcggga cggggagctg atctgcaatg ggatccctga ggaatcacag
     1801 atgcaccttt tgaactctga gcacttagcc acccaagcag agcagcaaga gtggctctgt
     1861 agtgttgttg cgctccagtg cagcatattg aaacatttat ctgctaagca gatgccttcg
     1921 cattgggact ctgaacagac agagaaggct gatattaagc ctgttattgt gactgacagc
     1981 tcagtcacca cctccctgca aacagctgac aagacaccta caccttccca ctaccccttg
     2041 tcctgcccct cagggattag cacccagaat tccctgagct gctctccacc ccaccagtcc
     2101 ccagccctag aggacatcgg ctgcagttct tgtgcggaaa aatccaagaa aaccccttgt
     2161 gggactgcca atgggccagt gaacacagag gtgaaagcta atggcccaca cctctacagc
     2221 agccctactg attccacgga cccccggcga cttccaggcg ctaacacccc actaccaggc
     2281 ctctcacacc ggcaaggctg gccccggccc ctcacgccac cagcggctgg gggccttcag
     2341 aaccacaccg tcggcatcat tgtgaagaca gagaatgcca ctggccccag ctcttgcccc
     2401 cagaggagtt tggttcctgt cccaagcctg cccccttcca ttcccagctc ttgtgccagc
     2461 atcgagaaca ccagcacttt gcaaagaaag actgtccaat cacagatagg acctccgttg
     2521 acagattcaa ggccactggg ctcaccccca aacgccaccc gggtgctcac tcccccgcaa
     2581 gcagcaggag atggtatctt ggccacaaca gccaaccaac gattcagctc accagcgcca
     2641 tcgtcagatg gcaaggtcag ccccggcacg ttatccatag gaagcgcttt aaccgtaccc
     2701 tctttcccag ccaactctac tgccatggtg gacctcacca actcacttcg agcatttatg
     2761 gatgtcaatg gagaaatcga gataaatatg ctggacgaga agctgatcaa gtttctggcc
     2821 ttgcagagaa tacatcagct tttcccctcc cgggtccaac cttcaccggg cagtgtcggg
     2881 acacatcagc tggcttctgg agggcaccac atagaagtgc aaagaaagga ggtacaggcc
     2941 cgagctgtgt tctaccccct cttagggttg ggaggagctg tgaacatgtg ctatcgaacc
     3001 ctctacatcg ggacaggagc tgacatggat gtgtgcctta caaactatgg tcactgtaac
     3061 tacgtgtccg ggaaacatgc ctgcatattc tacgatgaga ataccaaaca ttatgagctg
     3121 ttaaactaca gtgagcatgg gacaacggtg gacaatgtgc tgtattcatg tgacttctcg
     3181 gagaagaccc cgccaacccc cccaagcagt attgttgcca aagtgcagag tgtcatcagg
     3241 cgccgccggc accagaaaca ggacgaagag ccaagtgagg aggcagccat gatgagttcc
     3301 caggcccagg ggccgcagcg gagaccctgc aattgcaaag ccagcagctc gagcttgatt
     3361 gggggcagtg gggccggctg ggagggcaca gccttactgc accatggcag ctacatcaag
     3421 ctgggctgcc tgcagtttgt cttcagcatc actgagtttg cgaccaaaca gcccaaaggc
     3481 gatgccagcc tgctgcagga tggggtcttg gccgagaagc tctctctcaa gccccaccag
     3541 ggccctgtgc tgcgctccaa ctctgttcct taggactggc ggctaccccg ccactggcct
     3601 gtacacccac ccaagactcc tgcaatgcaa aaatgtacac aaaccaagcc cgggtgtttt
     3661 ctatactcta ccagaaaccc ttcaactaca atctttgcat gaaatgaaga aaaccttttg
     3721 actgtttttt aaaaatcctt tttcttttct caagttctag ggggcatttg cacatatatt
     3781 tgtactcaac atttcatggg aaagcggcag acctgagctg aggaacagcg tgggcaggga
     3841 gggaaagacc cagggtctgg acacttcctc caacacaaaa cccttcccca cccacctcct
     3901 gctccctccc cctcgcccac cattgtaaaa taatcagaaa cttgttctat tttgtggcag
     3961 tgacaatagt tttatattaa aagaaaaaat acagttttca tacagcaaaa tctatacaat
     4021 atcattgttt tatttaatat aaagatcgct acccaccttc cttccatggt tcccaccctc
     4081 cacgttattt tccctttctg cagcggttgc actacaggta gctactgtgt attatggaca
     4141 aatgagaaat gaattctttt tctggctgtc catctatttt atttcaaata aggaaaagtg
     4201 tatttggatt ttgtgtaaat acatctagtg atgacatttt ttcaatgttt ttaaaaaccg
     4261 tgtacagtac tacatgtggt agagcgtttt ctcaaattgt ctattgtagc aaaaatgttt
     4321 ttgtcgtaaa cctgttttgt ctcctttttt tgttctcttg ccacttctct cctcttcctc
     4381 ctgcccctgg ttccctcctc tcctcccacc cccacaacca gtaccaatgt acatagtaat
     4441 tgtaatgttt tagactttac agaaactttc ctgtattctg tatataaaaa acaaaaatac
     4501 ttcaaa
//
LOCUS       NM_001033564            2551 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens family with sequence similarity 229 member B (FAM229B),
            mRNA.
ACCESSION   NM_001033564
VERSION     NM_001033564.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2551)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   2  (bases 1 to 2551)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC044912.2, SRR1660805.208709.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368656.7/ ENSP00000357645.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BF110308.1, BC044912.2 and Z99289.2.
            On Nov 22, 2018 this sequence version replaced NM_001033564.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2551
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q21"
     gene            1..2551
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
                     /note="family with sequence similarity 229 member B"
                     /db_xref="GeneID:619208"
                     /db_xref="HGNC:HGNC:33858"
     misc_feature    300..302
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
                     /note="upstream in-frame stop codon"
     CDS             306..548
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
                     /note="UPF0731 protein C6orf225"
                     /codon_start=1
                     /product="protein FAM229B"
                     /protein_id="NP_001028736.1"
                     /db_xref="CCDS:CCDS34513.1"
                     /db_xref="GeneID:619208"
                     /db_xref="HGNC:HGNC:33858"
                     /translation="MPFQFGTQPRRFPVEGGDSSIELEPGLSSSAACNGKEMSPTRQLR
                     RCPGSHCLTITDVPVTVYATTRKPPAQSSKEMHPK"
     misc_feature    306..437
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4G0N7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      624..629
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
                     /note="hexamer: AATAAA"
     polyA_site      645
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
                     /note="major polyA site"
     regulatory      821..826
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
                     /note="hexamer: ATTAAA"
     polyA_site      843
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
     polyA_site      883
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
     regulatory      1141..1146
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
                     /note="hexamer: AATATA"
     polyA_site      1163
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
     regulatory      1420..1425
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
                     /note="hexamer: AATGAA"
     polyA_site      1460
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
     regulatory      1505..1510
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
                     /note="hexamer: AATATA"
     polyA_site      1534
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
     regulatory      2529..2534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
                     /note="hexamer: AATAAA"
     polyA_site      2551
                     /gene="FAM229B"
                     /gene_synonym="C6orf225"
ORIGIN
        1 gtcagaaggc cgcgcaagtg cacttgcgtg tcaccgttac cgtagcgact gggcttctgg
       61 actgtatatc ctagctgcct tgtcaacatc ttcgagcatc ggcagctccg gaggccgggg
      121 taactggcag caggtaggaa actatgtgaa agaatctcct gatgtcataa tttccgggtg
      181 tcaccggaac atttgatcat cattcctttg gcaattccag ccttctgtgg aaaggccagt
      241 agaaagcatt gatttattca cctctacagg aatcagactc agcctctttt ggttttcagt
      301 gaagtatgcc ttttcaattt ggaacccagc caaggaggtt tccagtggaa ggaggagatt
      361 cttcaattga gctggaacct gggctgagct ccagtgctgc ctgtaatggg aaggagatgt
      421 caccaaccag gcaactccgg aggtgccctg gaagtcattg cctgacaata actgatgttc
      481 ccgtcactgt ttatgcaaca acgagaaagc cacctgcaca aagcagcaag gaaatgcatc
      541 ctaaatagca ccattaagtc ttttgtcaag gtctgactag gtcaagggta atggaccagt
      601 atcatctggt gatctggtaa acaaataaaa gtggtggcac ctttagatga tgacaacagt
      661 tgagctcttt acttttagta agaccgacag aaatgtagtc agtaaagcac atgtagtgat
      721 aggctatcag ttatgtctga tacataagac agaataatat ttcacaatta gaaagtacct
      781 tagagatcat cttgctcaca gtagatcatt aatatcaata attaaagatg aagcttaatc
      841 caccatggtc atcagtcagg tggggcttat tctaaatgct taatgtgtct taagctcatt
      901 tccttgttca tatttgggtt gctacttggc taaatccttt caccttagta ccctaagcca
      961 gtttcctggc ttgatactat ttgataatgc tctgctcagg aatgattata ttgggtgaga
     1021 aatggagccc tggggttgtg tgttttggaa cagtattcaa gatcaaagaa agttcttagt
     1081 ccatggttaa tctgcaaggc atttaagcca cttccataga ggagcccaga ttgttggtta
     1141 aatatattga taatgaagtc aaagctgtgg ttccaacccc gatttttcca agaaaaatga
     1201 cgtctggtta tcactttgta cacgaagtgc taaccaggta tcttgataaa ttgtttacag
     1261 taggtattga gaaacctcat gtggattttt taatttggtt agatgtggga tcacttttga
     1321 ggatgaggcc agctctctat gttctctttt tcttcttgca gtagtcccca gaaactcagt
     1381 ctgctttcct tttctctcga tggctgtcag cacccatcta atgaaattgt cttctccaaa
     1441 agactgactt taggatcaga tacaattttc accagtgttt tttgtctacc ttgctgcttc
     1501 tgaaaatata catataagcc ttttaaaatg aaaagtttat taacttataa ttaaatagac
     1561 gtagatgcat atgtgttgca ttaggtgaaa agaaaaactg ccagggagtt ataagaggaa
     1621 aaactctcag agctcacact gagctgggag aagtttgaat gccaaccagt taaagtggaa
     1681 agatcttgaa catgtggggc attgagtaga gactcagaaa ggttgtactt tcataagaga
     1741 tccaaactgg agctagacta aaggctaatg tataccaatt ttaagaaagc ttaaaaataa
     1801 gccttgagag actcaagatg atctctaagt aacctcattt tatctgccaa ataaaaatag
     1861 aacattcctt aaaggaagaa aacaaaatcg aggcaggaaa ttgcctgagg ctggagaaaa
     1921 aatgacagga aggagaaagg agtgatgaaa aattcctcag agggctgggc ttggtggctc
     1981 atgcctgtaa tcctggcact ttgggaggcc gaagtggatg gattatctga ggtcaggcat
     2041 tcgaagccag cctggccaac atggtgaaac cccgactcta ctaaaaatac aaaaattagt
     2101 cgggtatgat gggcaggtgc ctgtaattcc agctacttgg gaggctgagg caggaaaata
     2161 gcttgaaccc aggaggcaga ggttgcagtg agctgagatt gcatcactgt gctccagcct
     2221 aggcaacaga gtgagacttt gtctcaaaaa aaaagaaaaa caaagaaaaa ttcctcagag
     2281 ctcatacaag gctgggtaga atatgtgttt caacaatagt ggatctttta atatagtaca
     2341 tggatcattg agtagagtct tcagcaaaat attggcaaag tagggttagg gttaggttag
     2401 ggagatggga atagactgaa gactactctg gacttgccct aacagagttt aagagcaaca
     2461 tttgaaagga tcaaactgat ttcaagtaac ttgagtgcat ccaaggggag aaaacccatc
     2521 aaaataaaaa taaaaactac aataaaatcc a
//
LOCUS       NM_001033566            3165 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens ras homolog family member T1 (RHOT1), transcript
            variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001033566
VERSION     NM_001033566.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3165)
  AUTHORS   Peng YY, Sun D and Xin Y.
  TITLE     Hsa_circ_0005230 is up-regulated and promotes gastric cancer cell
            invasion and migration via regulating the miR-1299/RHOT1 axis
  JOURNAL   Bioengineered 13 (3), 5046-5063 (2022)
   PUBMED   35170374
  REMARK    GeneRIF: Hsa_circ_0005230 is up-regulated and promotes gastric
            cancer cell invasion and migration via regulating the miR-1299/RHOT1
            axis.
REFERENCE   2  (bases 1 to 3165)
  AUTHORS   Fatiga FF, Wang LJ, Hsu T, Capuno JI and Fu CY.
  TITLE     Miro1 functions as an inhibitory regulator of MFN at elevated
            mitochondrial Ca2+ levels
  JOURNAL   J Cell Biochem 122 (12), 1848-1862 (2021)
   PUBMED   34431132
  REMARK    GeneRIF: Miro1 functions as an inhibitory regulator of MFN at
            elevated mitochondrial Ca(2+) levels.
REFERENCE   3  (bases 1 to 3165)
  AUTHORS   Ren X, Yu J, Guo L and Ma H.
  TITLE     Circular RNA circRHOT1 contributes to pathogenesis of non-small cell
            lung cancer by epigenetically enhancing C-MYC expression through
            recruiting KAT5
  JOURNAL   Aging (Albany NY) 13 (16), 20372-20382 (2021)
   PUBMED   34406978
  REMARK    GeneRIF: Circular RNA circRHOT1 contributes to pathogenesis of
            non-small cell lung cancer by epigenetically enhancing C-MYC
            expression through recruiting KAT5.
REFERENCE   4  (bases 1 to 3165)
  AUTHORS   Zhang H, Ge Z, Wang Z, Gao Y, Wang Y and Qu X.
  TITLE     Circular RNA RHOT1 promotes progression and inhibits ferroptosis via
            mir-106a-5p/STAT3 axis in breast cancer
  JOURNAL   Aging (Albany NY) 13 (6), 8115-8126 (2021)
   PUBMED   33686957
  REMARK    GeneRIF: Circular RNA RHOT1 promotes progression and inhibits
            ferroptosis via mir-106a-5p/STAT3 axis in breast cancer.
REFERENCE   5  (bases 1 to 3165)
  AUTHORS   Smith KP, Focia PJ, Chakravarthy S, Landahl EC, Klosowiak JL, Rice
            SE and Freymann DM.
  TITLE     Insight into human Miro1/2 domain organization based on the
            structure of its N-terminal GTPase
  JOURNAL   J Struct Biol 212 (3), 107656 (2020)
   PUBMED   33132189
  REMARK    GeneRIF: Insight into human Miro1/2 domain organization based on the
            structure of its N-terminal GTPase.
REFERENCE   6  (bases 1 to 3165)
  AUTHORS   MacAskill AF, Brickley K, Stephenson FA and Kittler JT.
  TITLE     GTPase dependent recruitment of Grif-1 by Miro1 regulates
            mitochondrial trafficking in hippocampal neurons
  JOURNAL   Mol Cell Neurosci 40 (3), 301-312 (2009)
   PUBMED   19103291
  REMARK    GeneRIF: These data suggest that Miro1 and the kinesin adaptor
            Grif-1 play an important role in regulating mitochondrial transport
            in neurons.
REFERENCE   7  (bases 1 to 3165)
  AUTHORS   Saotome M, Safiulina D, Szabadkai G, Das S, Fransson A, Aspenstrom
            P, Rizzuto R and Hajnoczky G.
  TITLE     Bidirectional Ca2+-dependent control of mitochondrial dynamics by
            the Miro GTPase
  JOURNAL   Proc Natl Acad Sci U S A 105 (52), 20728-20733 (2008)
   PUBMED   19098100
  REMARK    GeneRIF: Miro1,2 proteins serve as a [Ca(2+)](c)-sensitive switch
            and bifunctional regulator for both the motility and fusion-fission
            dynamics of the mitochondria.
REFERENCE   8  (bases 1 to 3165)
  AUTHORS   Fransson S, Ruusala A and Aspenstrom P.
  TITLE     The atypical Rho GTPases Miro-1 and Miro-2 have essential roles in
            mitochondrial trafficking
  JOURNAL   Biochem Biophys Res Commun 344 (2), 500-510 (2006)
   PUBMED   16630562
  REMARK    GeneRIF: Moreover, we show that Miro interacts with the
            Kinesin-binding proteins, GRIF-1 and OIP106, suggesting that the
            Miro GTPases form a link between the mitochondria and the
            trafficking apparatus of the microtubules.
REFERENCE   9  (bases 1 to 3165)
  AUTHORS   Aspenstrom P, Fransson A and Saras J.
  TITLE     Rho GTPases have diverse effects on the organization of the actin
            filament system
  JOURNAL   Biochem J 377 (Pt 2), 327-337 (2004)
   PUBMED   14521508
REFERENCE   10  (bases 1 to 3165)
  AUTHORS   Fransson A, Ruusala A and Aspenstrom P.
  TITLE     Atypical Rho GTPases have roles in mitochondrial homeostasis and
            apoptosis
  JOURNAL   J Biol Chem 278 (8), 6495-6502 (2003)
   PUBMED   12482879
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853561.12351.1,
            SRR11853559.13852.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000545287.7/ ENSP00000439737.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC060781.1, BC041114.1, AJ496730.1 and AA772711.1.
            On Aug 13, 2020 this sequence version replaced NM_001033566.2.
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 3' coding region, compared to variant 1. It encodes
            isoform 2, which is shorter than isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3165
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..3165
                     /gene="RHOT1"
                     /gene_synonym="ARHT1; MIRO-1; MIRO1"
                     /note="ras homolog family member T1"
                     /db_xref="GeneID:55288"
                     /db_xref="HGNC:HGNC:21168"
                     /db_xref="MIM:613888"
     CDS             192..2171
                     /gene="RHOT1"
                     /gene_synonym="ARHT1; MIRO-1; MIRO1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     rac-GTP binding protein-like protein; ras homolog gene
                     family, member T1; mitochondrial Rho (MIRO) GTPase 1"
                     /codon_start=1
                     /product="mitochondrial Rho GTPase 1 isoform 2"
                     /protein_id="NP_001028738.1"
                     /db_xref="CCDS:CCDS32611.1"
                     /db_xref="GeneID:55288"
                     /db_xref="HGNC:HGNC:21168"
                     /db_xref="MIM:613888"
                     /translation="MKKDVRILLVGEPRVGKTSLIMSLVSEEFPEEVPPRAEEITIPAD
                     VTPERVPTHIVDYSEAEQSDEQLHQEISQANVICIVYAVNNKHSIDKVTSRWIPLINER
                     TDKDSRLPLILVGNKSDLVEYSSMETILPIMNQYTEIETCVECSAKNLKNISELFYYAQ
                     KAVLHPTGPLYCPEEKEMKPACIKALTRIFKISDQDNDGTLNDAELNFFQRICFNTPLA
                     PQALEDVKNVVRKHISDGVADSGLTLKGFLFLHTLFIQRGRHETTWTVLRRFGYDDDLD
                     LTPEYLFPLLKIPPDCTTELNHHAYLFLQSTFDKHDLDRDCALSPDELKDLFKVFPYIP
                     WGPDVNNTVCTNERGWITYQGFLSQWTLTTYLDVQRCLEYLGYLGYSILTEQESQASAV
                     TVTRDKKIDLQKKQTQRNVFRCNVIGVKNCGKSGVLQALLGRNLMRQKKIREDHKSYYA
                     INTVYVYGQEKYLLLHDISESEFLTEAEIICDVVCLVYDVSNPKSFEYCARIFKQHFMD
                     SRIPCLIVAAKSDLHEVKQEYSISPTDFCRKHKMPPPQAFTCNTADAPSKDIFVKLTTM
                     AMYPHARLRCMCTCNRCTFCICQNFLNSDLLQSVKNKIFTAVLNRHVTQADLKSSTFWL
                     RASFGATVFAVLGFAMYKALLKQR"
     regulatory      3141..3146
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHOT1"
                     /gene_synonym="ARHT1; MIRO-1; MIRO1"
                     /note="hexamer: AATAAA"
     polyA_site      3165
                     /gene="RHOT1"
                     /gene_synonym="ARHT1; MIRO-1; MIRO1"
                     /note="major polyA site"
ORIGIN
        1 acagcccgct gggccggagg aggcggagct ggcgctgtcc cggctctctt gcggggaagc
       61 aactgagggg gcggcgcggc gggccccggc ggccgaagag gctggcaggt ggcgccgtgg
      121 ggtgggtgct cctggtgaga ggagtccact ccgtgcgtgc gggcggaggc cggcccccga
      181 gagccgccga catgaagaaa gacgtgcgga tcctgctggt gggagaacct agagttggga
      241 agacatcact gattatgtct ctggtcagtg aagaatttcc agaagaggtt cctccccggg
      301 cagaagaaat caccattcca gctgatgtca ccccagagag agttccaaca cacattgtag
      361 attactcaga agcagaacag agtgatgaac aacttcatca agaaatatct caggctaatg
      421 tcatctgtat agtgtatgcc gttaacaaca agcattctat tgataaggta acaagtcgat
      481 ggattcctct cataaatgaa agaacagaca aagacagcag gctgccttta atattggttg
      541 ggaacaaatc tgatctggtg gaatatagta gtatggagac catccttcct attatgaacc
      601 agtatacaga aatagaaacc tgtgtggagt gttcagcgaa aaacctgaag aacatatcag
      661 agctctttta ttacgcacag aaagctgttc ttcatcctac agggcccctg tactgcccag
      721 aggagaagga gatgaaacca gcttgtataa aagcccttac tcgtatattt aaaatatctg
      781 atcaagataa tgatggtact ctcaatgatg ctgaactcaa cttctttcag aggatttgtt
      841 tcaacactcc attagctcct caagctctgg aggatgtcaa gaatgtagtc agaaaacata
      901 taagtgatgg tgtggctgac agtgggttga ccctgaaagg ttttctcttt ttacacacac
      961 tttttatcca gagagggaga cacgaaacta cttggactgt gcttcgacga tttggttatg
     1021 atgatgacct ggatttgaca cctgaatatt tgttccccct gctgaaaata cctcctgatt
     1081 gcactactga attaaatcat catgcatatt tatttctcca aagcaccttt gacaagcatg
     1141 atttggatag agactgtgct ttgtcacctg atgagcttaa agatttattt aaagttttcc
     1201 cttacatacc ttgggggcca gatgtgaata acacagtttg taccaatgaa agaggctgga
     1261 taacctacca gggattcctt tcccagtgga cgctcacgac ttatttagat gtacagcggt
     1321 gcctggaata tttgggctat ctaggctatt caatattgac tgagcaagag tctcaagctt
     1381 cagctgttac agtgacaaga gataaaaaga tagacctgca gaaaaaacaa actcaaagaa
     1441 atgtgttcag atgtaatgta attggagtga aaaactgtgg gaaaagtgga gttcttcagg
     1501 ctcttcttgg aagaaactta atgaggcaga agaaaattcg tgaagatcat aaatcctact
     1561 atgcgattaa cactgtttat gtatatggac aagagaaata cttgttgttg catgatatct
     1621 cagaatcgga atttctaact gaagctgaaa tcatttgtga tgttgtatgc ctggtatatg
     1681 atgtcagcaa tcccaaatcc tttgaatact gtgccaggat ttttaagcaa cactttatgg
     1741 acagcagaat accttgctta atcgtagctg caaagtcaga cctgcatgaa gttaaacaag
     1801 aatacagtat ttcacctact gatttctgca ggaaacacaa aatgcctcca ccacaagcct
     1861 tcacttgcaa tactgctgat gcccccagta aggatatctt tgttaaattg acaacaatgg
     1921 ccatgtatcc ccatgcccgg ttacgctgta tgtgcacctg caacaggtgt acattttgca
     1981 tctgtcagaa cttcctcaac tcagacttgc tgcaatctgt aaagaacaaa atcttcactg
     2041 cagttcttaa caggcacgtg acacaagctg acctcaagag ctccacgttt tggcttcgag
     2101 caagttttgg tgctactgtt tttgcagttt tgggctttgc tatgtacaaa gcattattga
     2161 aacagcgatg atataaaaag aaatactgtc cctaccaaaa acaaatactt ttatgtacat
     2221 tctgaatgct ttaagttctg ctagaattat tgagatattt atacatgcag agttacttta
     2281 ttaatatttg taattcatgc ataagagtat tttaatgata gttataactg cagtattggc
     2341 tagcatatgg aaagaaaaca gctaacagcc aaactaaaat ggctaaattc cagaggccaa
     2401 aagggaatat tttgtaaata tatgtacata ttcaggcaag atatggtctc ccaagctgag
     2461 ttctagaaat gatgtttcta gacatttcta agtggtattg ttagtgctca cttggctcac
     2521 tcttctaggt ttaagttagc ccagagattg tatttactca tggatcactt tatttatttc
     2581 acatttactc agaatgatcc tttgggttct ataaggacat aaggtacaat ttgccattgt
     2641 ctctccattt ttaaaaacat acaagtcagt gtcagcttac caacatgaca ttttttcagt
     2701 cagttgtggt aggccagcct tgaagccatc gcacagtcta gaaacttgtg tagctgagtg
     2761 tgcagctcac ctttaagggt gaagttaggt aaaagcaatt agcagaggcg ttatctatgt
     2821 gattatgttg cttccttgtc agtatgttga attttatagc cctttcaatg aaataaaaaa
     2881 aaaatttgta tattaccaat gtttttagtt taaataaaga gtcaccctta ctactgttga
     2941 atttcatccc aagtgtaaat cattctataa tggctgtgtc tgttatagta tattacagta
     3001 actgcatgtg tcaccaagtg ttctatatca ggctaggata acctagaggc agtaattttt
     3061 taaatgataa aataaatcta atgaatataa actctcatga taaacctatt ttttccatca
     3121 tcagcctttt caagtattta aataaataac tgctgtgtac tgtga
//
LOCUS       NM_001033578            4106 bp    mRNA    linear   PRI 18-JUL-2023
DEFINITION  Homo sapiens serum/glucocorticoid regulated kinase family member 3
            (SGK3), transcript variant 3, mRNA.
ACCESSION   NM_001033578
VERSION     NM_001033578.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4106)
  AUTHORS   Xu N, Li LS, Li H, Zhang LH, Zhang N, Wang PJ, Cheng YX, Xiang JY,
            Linghu EQ and Chai NL.
  TITLE     SGK3 overexpression correlates with a poor prognosis in
            endoscopically resected superficial esophageal squamous cell
            neoplasia: A long-term study
  JOURNAL   World J Gastroenterol 29 (23), 3658-3667 (2023)
   PUBMED   37398883
  REMARK    GeneRIF: SGK3 overexpression correlates with a poor prognosis in
            endoscopically resected superficial esophageal squamous cell
            neoplasia: A long-term study.
REFERENCE   2  (bases 1 to 4106)
  AUTHORS   Cui Y, Liu R, Hong Y, Wang Y, Zhu Y, Wen T, Lu J, Mao S, Wang X, Pan
            J and Luo Y.
  TITLE     MicroRNA-92a-3p Regulates Retinal Angiogenesis by Targeting SGK3 in
            Vascular Endothelial Cells
  JOURNAL   Invest Ophthalmol Vis Sci 63 (11), 19 (2022)
   PUBMED   36269185
  REMARK    GeneRIF: MicroRNA-92a-3p Regulates Retinal Angiogenesis by Targeting
            SGK3 in Vascular Endothelial Cells.
REFERENCE   3  (bases 1 to 4106)
  AUTHORS   Xu L, Xiong F, Bai Y, Xiao J, Zhang Y, Chen J and Li Q.
  TITLE     Circ_0043532 regulates miR-182/SGK3 axis to promote granulosa cell
            progression in polycystic ovary syndrome
  JOURNAL   Reprod Biol Endocrinol 19 (1), 167 (2021)
   PUBMED   34740363
  REMARK    GeneRIF: Circ_0043532 regulates miR-182/SGK3 axis to promote
            granulosa cell progression in polycystic ovary syndrome. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 4106)
  AUTHORS   Nalairndran G, Hassan Abdul Razack A, Mai CW, Fei-Lei Chung F, Chan
            KK, Hii LW, Lim WM, Chung I and Leong CO.
  TITLE     Phosphoinositide-dependent Kinase-1 (PDPK1) regulates
            serum/glucocorticoid-regulated Kinase 3 (SGK3) for prostate cancer
            cell survival
  JOURNAL   J Cell Mol Med 24 (20), 12188-12198 (2020)
   PUBMED   32926495
  REMARK    GeneRIF: Phosphoinositide-dependent Kinase-1 (PDPK1) regulates
            serum/glucocorticoid-regulated Kinase 3 (SGK3) for prostate cancer
            cell survival. Erratum:[J Cell Mol Med. 2020 Dec;24(23):14122-14124.
            PMID: 33615700]
REFERENCE   5  (bases 1 to 4106)
  AUTHORS   Zheng H, Wu L, Wang X and Chen Q.
  TITLE     Risk of Nasopharyngeal Carcinoma Associated with Single Nucleotide
            Polymorphisms in the MicroRNA Binding Site of SGK3
  JOURNAL   Genet Test Mol Biomarkers 24 (8), 508-519 (2020)
   PUBMED   32644852
  REMARK    GeneRIF: Risk of Nasopharyngeal Carcinoma Associated with Single
            Nucleotide Polymorphisms in the MicroRNA Binding Site of SGK3.
REFERENCE   6  (bases 1 to 4106)
  AUTHORS   Lang F and Cohen P.
  TITLE     Regulation and physiological roles of serum- and
            glucocorticoid-induced protein kinase isoforms
  JOURNAL   Sci STKE 2001 (108), re17 (2001)
   PUBMED   11707620
  REMARK    Review article Publication Status: Online-Only
REFERENCE   7  (bases 1 to 4106)
  AUTHORS   Xu J, Liu D, Gill G and Songyang Z.
  TITLE     Regulation of cytokine-independent survival kinase (CISK) by the
            Phox homology domain and phosphoinositides
  JOURNAL   J Cell Biol 154 (4), 699-705 (2001)
   PUBMED   11514587
REFERENCE   8  (bases 1 to 4106)
  AUTHORS   Fang X, Yu SX, Lu Y, Bast RC Jr, Woodgett JR and Mills GB.
  TITLE     Phosphorylation and inactivation of glycogen synthase kinase 3 by
            protein kinase A
  JOURNAL   Proc Natl Acad Sci U S A 97 (22), 11960-11965 (2000)
   PUBMED   11035810
REFERENCE   9  (bases 1 to 4106)
  AUTHORS   Dai F, Yu L, He H, Zhao Y, Yang J, Zhang X and Zhao S.
  TITLE     Cloning and mapping of a novel human serum/glucocorticoid regulated
            kinase-like gene, SGKL, to chromosome 8q12.3-q13.1
  JOURNAL   Genomics 62 (1), 95-97 (1999)
   PUBMED   10585774
REFERENCE   10  (bases 1 to 4106)
  AUTHORS   Kobayashi T, Deak M, Morrice N and Cohen P.
  TITLE     Characterization of the structure and regulation of two novel
            isoforms of serum- and glucocorticoid-induced protein kinase
  JOURNAL   Biochem J 344 Pt 1 (Pt 1), 189-197 (1999)
   PUBMED   10548550
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.18644.1,
            SRR1803612.161950.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000521198.7/ ENSP00000430463.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291428.1, CR933673.1,
            BQ777590.1, BU177012.1, CK822899.1 and AI127772.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001033578.2.
            Summary: This gene is a member of the Ser/Thr protein kinase family
            and encodes a phosphoprotein with a PX (phox homology) domain. The
            protein phosphorylates several target proteins and has a role in
            neutral amino acid transport and activation of potassium and
            chloride channels. Alternate transcriptional splice variants,
            encoding different isoforms, have been characterized. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1 and 3 encode the same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4106
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q13.1"
     gene            1..4106
                     /gene="SGK3"
                     /gene_synonym="CISK; SGK2; SGKL"
                     /note="serum/glucocorticoid regulated kinase family member
                     3"
                     /db_xref="GeneID:23678"
                     /db_xref="HGNC:HGNC:10812"
                     /db_xref="MIM:607591"
     misc_feature    172..174
                     /gene="SGK3"
                     /gene_synonym="CISK; SGK2; SGKL"
                     /note="upstream in-frame stop codon"
     CDS             175..1665
                     /gene="SGK3"
                     /gene_synonym="CISK; SGK2; SGKL"
                     /EC_number="2.7.11.1"
                     /note="isoform 1 is encoded by transcript variant 3;
                     cytokine-independent survival kinase"
                     /codon_start=1
                     /product="serine/threonine-protein kinase Sgk3 isoform 1"
                     /protein_id="NP_001028750.1"
                     /db_xref="GeneID:23678"
                     /db_xref="HGNC:HGNC:10812"
                     /db_xref="MIM:607591"
                     /translation="MQRDHTMDYKESCPSVSIPSSDEHREKKKRFTVYKVLVSVGRSEW
                     FVFRRYAEFDKLYNTLKKQFPAMALKIPAKRIFGDNFDPDFIKQRRAGLNEFIQNLVRY
                     PELYNHPDVRAFLQMDSPKHQSDPSEDEDERSSQKLHSTSQNINLGPSGNPHAKPTDFD
                     FLKVIGKGSFGKVLLAKRKLDGKFYAVKVLQKKIVLNRKEQKHIMAERNVLLKNVKHPF
                     LVGLHYSFQTTEKLYFVLDFVNGGELFFHLQRERSFPEHRARFYAAEIASALGYLHSIK
                     IVYRDLKPENILLDSVGHVVLTDFGLCKEGIAISDTTTTFCGTPEYLAPEVIRKQPYDN
                     TVDWWCLGAVLYEMLYGLPPFYCRDVAEMYDNILHKPLSLRPGVSLTAWSILEELLEKD
                     RQNRLGAKEDFLEIQNHPFFESLSWADLVQKKIPPPFNPNVAGPDDIRNFDTAFTEETV
                     PYSVCVSSDYSIVNASVLEADDAFVGFSYAPPSEDLFL"
     misc_feature    175..237
                     /gene="SGK3"
                     /gene_synonym="CISK; SGK2; SGKL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BR1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    535..642
                     /gene="SGK3"
                     /gene_synonym="CISK; SGK2; SGKL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BR1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    550..552
                     /gene="SGK3"
                     /gene_synonym="CISK; SGK2; SGKL"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ERE3; propagated from
                     UniProtKB/Swiss-Prot (Q96BR1.1); phosphorylation site"
     misc_feature    559..561
                     /gene="SGK3"
                     /gene_synonym="CISK; SGK2; SGKL"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ERE3; propagated from
                     UniProtKB/Swiss-Prot (Q96BR1.1); phosphorylation site"
     misc_feature    757..789
                     /gene="SGK3"
                     /gene_synonym="CISK; SGK2; SGKL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BR1.1);
                     Region: Nuclear localization signal. /evidence=ECO:0000250"
     misc_feature    1132..1134
                     /gene="SGK3"
                     /gene_synonym="CISK; SGK2; SGKL"
                     /note="Phosphothreonine, by PDPK1.
                     /evidence=ECO:0000269|PubMed:10548550,
                     ECO:0000269|PubMed:16790420; propagated from
                     UniProtKB/Swiss-Prot (Q96BR1.1); phosphorylation site"
     misc_feature    1630..1632
                     /gene="SGK3"
                     /gene_synonym="CISK; SGK2; SGKL"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:16790420,
                     ECO:0000269|PubMed:16888620; propagated from
                     UniProtKB/Swiss-Prot (Q96BR1.1); phosphorylation site"
     regulatory      3929..3934
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGK3"
                     /gene_synonym="CISK; SGK2; SGKL"
                     /note="hexamer: AATAAA"
     polyA_site      3951
                     /gene="SGK3"
                     /gene_synonym="CISK; SGK2; SGKL"
                     /note="major polyA site"
     regulatory      4084..4089
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGK3"
                     /gene_synonym="CISK; SGK2; SGKL"
                     /note="hexamer: AATAAA"
     polyA_site      4106
                     /gene="SGK3"
                     /gene_synonym="CISK; SGK2; SGKL"
                     /note="major polyA site"
ORIGIN
        1 gcagtgcgtt cggctccgcg cccgccgcgc cgggagcagc accgcggggc caggttgcat
       61 gatggaattt gaacattact tcaagaggtt ttgtattttg gattagttaa ttgggtttgt
      121 cctctgctga ctgtttcttc ggatgcattt tttggtgtgc tcttgaggga ttaaatgcaa
      181 agagatcaca ccatggacta caaggaaagc tgcccaagtg taagcattcc cagctccgat
      241 gaacacagag agaaaaagaa gaggtttact gtttataaag ttctggtttc agtgggaaga
      301 agtgaatggt ttgtcttcag gagatatgca gagtttgata aactttataa cactttaaaa
      361 aaacagtttc ctgctatggc cctgaagatt cctgccaaga gaatatttgg tgataatttt
      421 gatccagatt ttattaaaca aagacgagca ggactaaacg aattcattca gaacctagtt
      481 aggtatccag aactttataa ccatccagat gtcagagcat tccttcaaat ggacagtcca
      541 aaacaccagt cagatccatc tgaagatgag gatgaaagaa gttctcagaa gctacactct
      601 acctcacaga acatcaacct gggaccgtct ggaaatcctc atgccaaacc aactgacttt
      661 gatttcttaa aagttattgg aaaaggcagc tttggcaagg ttcttcttgc aaaacggaaa
      721 ctggatggaa aattttatgc tgtcaaagtg ttacagaaaa aaatagttct caacagaaaa
      781 gagcaaaaac atattatggc tgaacgtaat gtgctcttga aaaatgtgaa acatccgttt
      841 ttggttggat tgcattattc cttccaaaca actgaaaagc tttattttgt tctggatttt
      901 gttaatggag gggagctttt tttccactta caaagagaac ggtcctttcc tgagcacaga
      961 gctaggtttt acgctgctga aattgctagt gcattgggtt acttacattc catcaaaata
     1021 gtatacagag acttgaaacc agaaaatatt cttttggatt cagtaggaca tgttgtctta
     1081 acagattttg ggctttgtaa agaaggaatt gctatttctg acaccactac cacattttgt
     1141 gggacaccag agtatcttgc acctgaagta attagaaaac agccctatga caatactgta
     1201 gattggtggt gccttggggc tgttctgtat gaaatgctgt atggattgcc tcctttttat
     1261 tgccgagatg ttgctgaaat gtatgacaat atccttcaca aacccctaag tttgaggcca
     1321 ggagtgagtc ttacagcctg gtccattctg gaagaactcc tagaaaaaga caggcaaaat
     1381 cgacttggtg ccaaggaaga ctttcttgaa attcagaatc atcctttttt tgaatcactc
     1441 agctgggctg accttgtaca aaagaagatt ccaccaccat ttaatcctaa tgtggctgga
     1501 ccagatgata tcagaaactt tgacacagca tttacagaag aaacagttcc atattctgtg
     1561 tgtgtatctt ctgactattc tatagtgaat gccagtgtat tggaggcaga tgatgcattc
     1621 gttggtttct cttatgcacc tccttcagaa gacttatttt tgtgagcagt ttgccattca
     1681 gaaaccattg agcaaaataa gtctatagat gggactgaaa cttctatttg tgtgaatata
     1741 ttcaaatatg tataactagt gcctcatttt tatatgtaat gatgaaaact atgaaaaaat
     1801 gtattttctt ctatgtgcaa gaaaaatagg gcatttcaaa gagctgtttt gattaaaatt
     1861 tatattcttg tttaataagc ttatttttaa acaatttaaa agctattatt cttagcatta
     1921 acctattttt aaagaaacct tttttgctat tgactgtttt ttccctctaa gtttacacta
     1981 acatctaccc aagatagact gttttttaac agtcaatttc agttcagcta acatatatta
     2041 atacctttgt aactctttgc tatggctttt gttatcacac caaaactatg caattggtac
     2101 atggttgttt aagaagaaac cgtatttttc catgataaat cactgtttga aatatttggt
     2161 tcatggtatg atcgaaatgt aaaagcataa ttaacacatt ggctgctagt taacaattgg
     2221 aataacttta ttctgcagat catttaagaa gtaacaggcc gggcgcggtg gctcacgcct
     2281 gtaatcccag cactttggga ggctgaggcg ggcagatcac ctgaggtcag gagttggaga
     2341 ccagcctgac caacatggac aaaccccgtc tctactaaaa atacaaaatt ggcagggtgt
     2401 ggtggcacat gcctataatc ccagctactt gggaggctaa ggcaggagaa tcgcttgaac
     2461 ccgggaggcg gaggttgcag tgagccgaga tcgcaccatt gcactcctgc ctgggcaaca
     2521 agagtgaaac tccatctcca aaaaaaaaaa gaaaaagtaa caaaaggaaa ttatttgttt
     2581 ttgaaatacc agttcaactt tgtggattat ttttcctctg aaggaaaaga aaaggcttaa
     2641 tggttaggat ttttaagtat tcccaaagat ctgaagggta ataaaatgta ctggattttt
     2701 taaggtggta ccaaaaatga atgtctgtca tatatttata ttacaaatac attatattta
     2761 tgttctattc atcttttgaa tgtttagtat gctattaagt cattctgaat ctttgtattt
     2821 gcttttgcaa ataggtattt caaagctctt ttcctaactg gttaagtaaa ataaaaaatt
     2881 gagctttcta gaatatttgc ctaattggga attaaaaagt aaaataatag gccaggcatg
     2941 gtggctcatg cctataagca ccctgggagg ccgaggcagg cagattattt gagctcagga
     3001 gtttgagacc atcctgggca acatggcgaa accctatctc tacaaaaaat acaaaaatta
     3061 gccagacatg gtggcacatg cctttagtcc cagctactct ggaggctgaa gttggaggat
     3121 ggcttgagcc cacgagatgg aagttgcagt gaactgaaat tgtgccactg cacttttcag
     3181 cctgggtgcc acagcgagac cctagttaag agaaaaaaaa agtaaaaaca aattgtgggt
     3241 caaagtaaat gtatacagtt ttattacaat gtaacaaaag ttgaaaatca ggcagatgtg
     3301 tattcagtat ccaattcaat atatcttaga aaaagcacag gaaacagacc ttaaaattgt
     3361 aacctaccaa ctaacttaca tgcttataaa agtaaaggag aataactggc cgggcacggt
     3421 ggctcatgcc tataaaattc cagcactttg ggaggccaag gcaggaggat cacttgagcc
     3481 tatgagttca agaccagcct aggcaatgta gtgacacctc atttctattt attttaaaaa
     3541 aaagagagag taactacaga agaactttaa aaaataaaaa ataagcttac cttggattct
     3601 tggcttagag tagaggtttt ttttaagtta tggaggaaac atttttgtaa aagtttaatg
     3661 acccacttta gatgctccaa gaacaagcat cccttccatg tatgtcttga gaaagaaatc
     3721 acagaagcat ttctcaccaa tactctttgg cttaaaatgt tcagcagaat tgggcagtgg
     3781 gggtgacttt tcttatatta ataatattta catccaatac actgaatctt cctttagagg
     3841 taagacttta atatctatac tgtaaatatt tggtttattt ggcactactg taagttttgt
     3901 ttttcacaaa gctcttatta tgaagcaaaa taaaaattct agtttcttgt atgatttttt
     3961 gtactcattc attcctgtta agctgccaaa aattaaagtg caatattgta tatttttaag
     4021 aacaaattta aaatagaatt ttgatgtttc tcagatcaca agaaatacaa atctatatag
     4081 tataataaaa tcagcaaaaa gatcaa
//
LOCUS       NM_001033602            7439 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens microtubule associated scaffold protein 2 (MTUS2),
            transcript variant 1, mRNA.
ACCESSION   NM_001033602
VERSION     NM_001033602.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7439)
  AUTHORS   Kim DK, Weller B, Lin CW, Sheykhkarimli D, Knapp JJ, Dugied G,
            Zanzoni A, Pons C, Tofaute MJ, Maseko SB, Spirohn K, Laval F,
            Lambourne L, Kishore N, Rayhan A, Sauer M, Young V, Halder H, la
            Rosa NM, Pogoutse O, Strobel A, Schwehn P, Li R, Rothballer ST,
            Altmann M, Cassonnet P, Cote AG, Vergara LE, Hazelwood I, Liu BB,
            Nguyen M, Pandiarajan R, Dohai B, Coloma PAR, Poirson J, Giuliana P,
            Willems L, Taipale M, Jacob Y, Hao T, Hill DE, Brun C, Twizere JC,
            Krappmann D, Heinig M, Falter C, Aloy P, Demeret C, Vidal M,
            Calderwood MA, Roth FP and Falter-Braun P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   2  (bases 1 to 7439)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 7439)
  AUTHORS   Chen S, Fragoza R, Klei L, Liu Y, Wang J, Roeder K, Devlin B and Yu
            H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (bases 1 to 7439)
  AUTHORS   Adams G Jr, Zhou J, Wang W, Wu H, Quan J, Liu Y, Xia P, Wang Z, Zhou
            S, Jiang J, Mo F, Zhuang X, Thomas K, Hill DL, Aikhionbare FO, He P,
            Liu X, Ding X and Yao X.
  TITLE     The Microtubule Plus End Tracking Protein TIP150 Interacts with
            Cortactin to Steer Directional Cell Migration
  JOURNAL   J Biol Chem 291 (39), 20692-20706 (2016)
   PUBMED   27451391
  REMARK    GeneRIF: a dynamic TIP150-cortactin interaction orchestrates
            directional cell migration via coupling dynamic microtubule plus
            ends to the cortical cytoskeleton.
REFERENCE   5  (bases 1 to 7439)
  AUTHORS   Xia P, Zhou J, Song X, Wu B, Liu X, Li D, Zhang S, Wang Z, Yu H,
            Ward T, Zhang J, Li Y, Wang X, Chen Y, Guo Z and Yao X.
  TITLE     Aurora A orchestrates entosis by regulating a dynamic MCAK-TIP150
            interaction
  JOURNAL   J Mol Cell Biol 6 (3), 240-254 (2014)
   PUBMED   24847103
  REMARK    GeneRIF: A dynamic interaction of MCAK-TIP150 orchestrated by Aurora
            A-mediated phosphorylation governs entosis via regulating
            microtubule plus-end dynamics and cell rigidity.
REFERENCE   6  (bases 1 to 7439)
  AUTHORS   Rodrigues-Ferreira S and Nahmias C.
  TITLE     An ATIPical family of angiotensin II AT2 receptor-interacting
            proteins
  JOURNAL   Trends Endocrinol Metab 21 (11), 684-690 (2010)
   PUBMED   20889352
  REMARK    Review article
REFERENCE   7  (bases 1 to 7439)
  AUTHORS   Trevino LR, Shimasaki N, Yang W, Panetta JC, Cheng C, Pei D, Chan D,
            Sparreboom A, Giacomini KM, Pui CH, Evans WE and Relling MV.
  TITLE     Germline genetic variation in an organic anion transporter
            polypeptide associated with methotrexate pharmacokinetics and
            clinical effects
  JOURNAL   J Clin Oncol 27 (35), 5972-5978 (2009)
   PUBMED   19901119
REFERENCE   8  (bases 1 to 7439)
  AUTHORS   Du Puy L, Beqqali A, Monshouwer-Kloots J, Haagsman HP, Roelen BA and
            Passier R.
  TITLE     CAZIP, a novel protein expressed in the developing heart and nervous
            system
  JOURNAL   Dev Dyn 238 (11), 2903-2911 (2009)
   PUBMED   19806667
  REMARK    GeneRIF: These results suggest a role for CAZIP in development and
            function of the heart and nervous system in vertebrates.
REFERENCE   9  (bases 1 to 7439)
  AUTHORS   Jiang K, Wang J, Liu J, Ward T, Wordeman L, Davidson A, Wang F and
            Yao X.
  TITLE     TIP150 interacts with and targets MCAK at the microtubule plus ends
  JOURNAL   EMBO Rep 10 (8), 857-865 (2009)
   PUBMED   19543227
  REMARK    GeneRIF: TIP150 facilitates the EB1-dependent loading of MCAK onto
            MT plus ends and orchestrates the dynamics at the plus end of MTs.
REFERENCE   10  (bases 1 to 7439)
  AUTHORS   Venkatesan K, Rual JF, Vazquez A, Stelzl U, Lemmens I,
            Hirozane-Kishikawa T, Hao T, Zenkner M, Xin X, Goh KI, Yildirim MA,
            Simonis N, Heinzmann K, Gebreab F, Sahalie JM, Cevik S, Simon C, de
            Smet AS, Dann E, Smolyar A, Vinayagam A, Yu H, Szeto D, Borick H,
            Dricot A, Klitgord N, Murray RR, Lin C, Lalowski M, Timm J, Rau K,
            Boone C, Braun P, Cusick ME, Roth FP, Hill DE, Tavernier J, Wanker
            EE, Barabasi AL and Vidal M.
  TITLE     An empirical framework for binary interactome mapping
  JOURNAL   Nat Methods 6 (1), 83-90 (2009)
   PUBMED   19060904
COMMENT     ##Evidence-Data-START##
            CDS exon combination             :: AB018317.2 [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMN03267757 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            inferred exon combination        :: based on alignments, homology
            MANE Ensembl match :: ENST00000612955.6/ ENSP00000483729.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL359741.9, AL160255.14, AL596092.8, AL607144.5 and AL596114.10.
            On or before Jun 22, 2020 this sequence version replaced
            XM_011535020.3, NM_001033602.3.
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7439
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.3"
     gene            1..7439
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /note="microtubule associated scaffold protein 2"
                     /db_xref="GeneID:23281"
                     /db_xref="HGNC:HGNC:20595"
                     /db_xref="MIM:619358"
     misc_feature    550..552
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /note="upstream in-frame stop codon"
     misc_feature    559..561
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MASSPTKGLT"
     CDS             589..4698
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /note="isoform a is encoded by transcript variant 1; +TIP
                     of 150 kDa; cardiac zipper protein; tracking protein of 150
                     kDa; microtubule plus-end tracking protein TIP150;
                     microtubule associated tumor suppressor candidate 2"
                     /codon_start=1
                     /product="microtubule-associated tumor suppressor candidate
                     2 isoform a"
                     /protein_id="NP_001028774.3"
                     /db_xref="CCDS:CCDS45022.2"
                     /db_xref="GeneID:23281"
                     /db_xref="HGNC:HGNC:20595"
                     /db_xref="MIM:619358"
                     /translation="MSVPVAPKKSCYTQLRDNRNAARNNNESILSLGDTNANQIMLEVS
                     SSHDESKTCDLGDEIGNTNSSEPENRTHFHKEFHQLQGFGKGSQAGSASLKDFRLSSTI
                     QRELNEEHTVERGTDSLQTTRSIQGPSLSSWRNVMSEASLDVLAKRDAEIPRHVPKDKL
                     AKTLDNEELRRHSLERASSSVAAVGSLTPQHPQPLSLDSREARGQIPGGGEGPQKTLPD
                     HAVPAAFPATDSTSEGKSVRHPKPSTSESKQSTPSETQTVGAHVLQVCSEHTSHSAHPE
                     PALNLTLASKEIPSKLEAQLGQGKGEAKLDLKYVPPRRVEQEGKAAQEGYLGCHKEENL
                     SALEGRDPCGEAHPEATDALGHLLNSDLHHLGVGRGNCEEKRGVNPGEQDSLHTTPKQG
                     SASLGGADNQPTGKISPCAGEKLGERTSSSFSPGDSHVAFIPNNLTDSKPLDVIEEERR
                     LGSGNKDSVMVLVFNPSVGENKTEVPEPLDPQSGRSEARESKEVTTSVAENRNLLENAD
                     KIESTSARADSVLNIPAPLHPETTVNMTYQPTTPSSSFQDVSVFGMDAGSPLVVPPPTD
                     SARLLNTSPKVPDKNTCPSGIPKPVFTHSKDTPSSQEGMENYQVEKTEERTETKPIIMP
                     KPKHVRPKIITYIRRNPQALGQVDASLVPVGLPYAPPTCTMPLPHEEKAAGGDLKPSAN
                     LYEKFKPDLQKPRVFSSGLMVSGIKPPGHPFSQMSEKFLQEVTDHPGKEEFCSPPYAHY
                     EVPPTFYRSAMLLKPQLGLGAMSRLPSAKSRILIASQRSSASAIHPPGPITTATSLYSS
                     DPSADLKKASSSNAAKSNLPKSGLRPPGYSRLPAAKLAAFGFVRSSSVSSVSSTQSGDS
                     AQPEQGRPATRSTFGNEEQPVLKASLPSKDTPKGAGRVAPPASSSVTAPRRSLLPAPKS
                     TSTPAGTKKDAQKDQDTNKPAVSSPKRVAASTTKLHSPGYPKQRTAAARNGFPPKPDPQ
                     AREAERQLVLRLKERCEQQTRQLGVAQGELKRAICGFDALAVATQHFFRKNESALVKEK
                     ELSIELANIRDEVAFHTAKCEKLQKEKEELERRFEDEVKRLGWQQQAELQELEERLQLQ
                     FEAEMARLQEEHGDQLLSIRCQHQEQVEDLTASHDAALLEMENNHTVAITILQDDHDHK
                     VQELMSTHELEKKELEENFEKLRLSLQDQVDTLTFQSQSLRDRARRFEEALRKNTEEQL
                     EIALAPYQHLEEDMKSLKQVLEMKNQQIHEQEKKILELEKLAEKNIILEEKIQVLQQQN
                     EDLKARIDQNTVVTRQLSEENANLQEYVEKETQEKKRLSRTNEELLWKLQTGDPTSPIK
                     LSPTSPVYRGSSSGPSSPARVSTTPR"
     misc_feature    1126..1374
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JR59.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1708..1914
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JR59.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2017..2115
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JR59.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2332..2469
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JR59.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2509..3528
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JR59.3);
                     Region: Mediates interaction with MAPRE1.
                     /evidence=ECO:0000269|PubMed:19543227"
     misc_feature    2959..3105
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JR59.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2989..4038
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JR59.3);
                     Region: Localization to the growing distal tip of
                     microtubules"
     misc_feature    2989..3258
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JR59.3);
                     Region: Sufficient for interaction with KIF2C.
                     /evidence=ECO:0000269|PubMed:19543227"
     misc_feature    3169..3564
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JR59.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4579..4695
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JR59.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      7415..7420
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /note="hexamer: AATAAA"
     polyA_site      7439
                     /gene="MTUS2"
                     /gene_synonym="CAZIP; ICIS; KIAA0774; TIP150"
                     /note="major polyA site"
ORIGIN
        1 agaggtgata gcgagcgccg gcggctccag gtgcgggggc gcccctcgcg ctccacctgc
       61 gccgccgccg ccggctctca gggcaagttt atctcccccc ttctgcggaa acccttgacc
      121 gcttagcgga gtacagacct gtcggtaaat agaaaactcg agctggagag gaggaggaag
      181 cagcgtggcg gaacccggcc cgagatgagc gtctccgtga gggcagtggt ggcctcttgg
      241 acattacatc tttcttggct ctttttgacc caggtttcca cagctggatt gtttactagg
      301 gccaattgtc accaatggca gtaaaactca ttttctgggg aatagggtct catggactga
      361 ttggctctca ttcagcagga acctaacaga taagtcttcc tgctgtatat caagacaatg
      421 cttggttttc aagctgttct gagaatgatt aaagcagtgt cgcaaggtga cattgtcagg
      481 ggagaacaag cagcttgaga atttcctctt aatctgattg cagcttgaag gcagcccatt
      541 tccattaagt aggactgcat ggcaagcagc cccaccaaag ggttgacaat gagcgtccca
      601 gtggctccta agaaatcatg ttacactcag ttgcgggaca acagaaatgc agcaagaaat
      661 aataatgaaa gcatcttaag tctgggagat acgaatgcca atcaaatcat gttggaggtc
      721 agctcctctc atgacgagtc caagacatgt gacctgggag atgaaattgg aaatacaaat
      781 tcaagtgagc cagaaaaccg tacccatttc cataaggaat ttcaccaact tcagggcttt
      841 gggaaaggct ctcaggctgg ctctgccagc ctgaaagatt ttagactttc ttcaaccatt
      901 cagagggaac tcaatgaaga gcacacagtg gagagaggca cagatagcct gcagaccacg
      961 cggagtattc agggaccaag tctgtcgagt tggaggaatg tgatgagtga ggccagtcta
     1021 gacgttttgg ctaaaaggga tgctgaaatt ccccggcatg ttcccaagga taaactggca
     1081 aagacccttg acaatgagga actgaggagg cattctttgg aaagagcaag cagctctgta
     1141 gctgcagtcg ggagcctgac tccgcagcat ccacagcctc tatccctcga ctcccgggaa
     1201 gcacggggtc agatacctgg gggtggggag gggccacaga agacattgcc agaccacgct
     1261 gtcccggcag ctttccctgc aactgacagt acctcagagg gaaagagtgt gcgtcatcct
     1321 aaaccatcta cctcagaaag caagcagagc actccctcag agacccaaac agtgggggca
     1381 catgtactgc aggtgtgcag tgagcacaca tcacattccg cccatccaga gcctgctctg
     1441 aatttgactt tggcatcgaa ggaaatccca agtaaactgg aagcacaatt aggtcaggga
     1501 aagggagagg ccaagctgga tctgaaatat gttcctccca ggagagttga acaggaggga
     1561 aaggcagccc aggaagggta tctgggatgc cacaaggaag agaatctgtc agccttggag
     1621 ggaagggatc catgtgggga agcacacccg gaagccaccg atgcacttgg ccatctgctg
     1681 aacagtgacc tccaccacct tggggtggga agaggcaact gtgaagagaa gagaggagtc
     1741 aacccagggg agcaggattc tctccacacc acccccaaac agggctctgc ttccttagga
     1801 ggggctgata atcagcccac tggcaaaatt tcaccatgtg caggtgagaa gttgggtgaa
     1861 aggacatcca gcagcttttc accaggtgac agtcatgtgg cttttattcc taataatctg
     1921 actgacagca agcccttgga tgtcattgag gaggaaaggc ggttgggcag tgggaataag
     1981 gacagtgtta tggttttggt gttcaatcct tctgttggag agaacaagac ggaggtgcct
     2041 gagcccctgg accctcaaag tggccgctca gaagcacggg aaagcaaaga ggtcaccaca
     2101 tctgttgctg aaaacaggaa ccttctagag aatgcagata agattgaaag cacctcagca
     2161 agagcagatt cagttctcaa tattccagca cccctccacc cagagacaac tgtgaacatg
     2221 acctaccagc ctacaacacc cagtagcagt tttcaggatg ttagcgtgtt cggtatggat
     2281 gcggggtccc ccttggtagt tccaccccct actgatagtg cacgcttgtt gaacacgtcc
     2341 cccaaagtgc ctgacaagaa cacttgcccc agtgggatcc ccaagcctgt cttcacacat
     2401 tccaaggaca caccttcctc gcaggaggga atggagaact atcaggttga aaaaacagag
     2461 gagaggacag aaactaagcc catcattatg cccaagccca agcatgtgag gcccaagatc
     2521 atcacctaca tcaggaggaa tccccaggcc ctgggccagg tggacgcctc gctggttcca
     2581 gtggggcttc catatgcccc gcccacatgt accatgcctc ttccccacga agagaaggca
     2641 gcaggtggtg acctgaagcc atctgccaac ctctatgaga aattcaagcc agacctgcag
     2701 aagccaaggg tcttcagttc cggattgatg gtgtctggaa tcaagccccc gggacatcct
     2761 ttcagtcaaa tgagtgaaaa gtttttgcag gaggttacag accaccctgg aaaagaagag
     2821 ttttgttctc ctccctatgc tcattatgaa gtccctccaa ctttctatcg gtcagccatg
     2881 ctccttaagc cccagctagg attgggtgca atgtcccgtt taccatctgc aaagagcagg
     2941 attctgattg caagtcagag gtcttcagcg agcgccatcc acccaccagg acccataaca
     3001 acagccacca gtctctacag ttccgatcct tcagcagatt taaagaaagc ttccagttca
     3061 aatgctgcaa aatccaatct cccgaaatct ggtctccgtc ctcccggata ctcacgtctc
     3121 ccggcagcca aactggcggc atttggcttt gtccggagct ccagcgtctc ctcagtctcc
     3181 agcacccagt ccggggacag tgcacagcca gagcagggcc ggccagccac ccgttcaacc
     3241 tttgggaatg aagaacagcc agttctgaag gcatctctgc cttctaagga cacacccaag
     3301 ggggccggcc gggtggcccc tccagcatcc tccagtgtga cagcaccccg caggagttta
     3361 cttccagcgc caaaatccac ttccacaccc gctggaacaa agaaagatgc tcagaaagat
     3421 caagatacga ataaacctgc tgtttcatct cctaagagag tagcagcttc aaccaccaag
     3481 cttcattcac caggataccc aaagcagagg actgcggcag ctcgaaatgg gtttccgccc
     3541 aagccggacc cgcaggcccg tgaggctgag cggcagctgg tgctgcggct gaaggagcgg
     3601 tgtgagcagc agaccagaca gctgggcgtt gcgcaagggg agctgaagag ggccatctgc
     3661 ggctttgatg ccctcgccgt ggccacgcag catttcttta gaaagaatga aagtgccctt
     3721 gtgaaagaaa aagagctgtc aatcgaactt gcaaacatca gggatgaagt tgccttccat
     3781 acagcaaagt gcgagaaact acaaaaggag aaggaggagc tggagaggcg gttcgaggac
     3841 gaggtgaaga ggctgggctg gcagcagcag gccgagctcc aggagctgga ggagcggctg
     3901 cagctgcaat tcgaggcgga aatggcgcgc ctgcaggagg agcacggtga ccagctgctg
     3961 agcatccggt gtcaacacca ggagcaggtg gaagatctca ccgccagcca tgatgctgct
     4021 ctcctagaga tggaaaataa ccacacagtt gccatcacaa tcctgcagga tgaccacgac
     4081 cacaaagtcc aagaattgat gtccactcat gagcttgaaa agaaagaatt ggaagaaaat
     4141 tttgaaaaac tgcggctgtc attgcaggac caggtggaca cgctgacctt ccagagccag
     4201 tctctgcggg acagagcccg ccgcttcgaa gaggccttga ggaagaacac agaggagcag
     4261 ctggagattg cattggctcc ttatcagcac ttggaagaag acatgaagag tctgaagcag
     4321 gtattagaaa tgaagaatca gcaaatacac gagcaagaaa agaagattct tgagctggaa
     4381 aagctggcag aaaagaacat tatcctagaa gaaaagatcc aggttctcca acagcagaac
     4441 gaagacctca aagcaaggat tgaccaaaac acagttgtca ccagacagct gtcggaggaa
     4501 aatgctaacc tccaggaata tgttgagaag gaaacccagg agaagaagag attgagccga
     4561 accaatgaag agctgctttg gaagctccaa actggggacc cgaccagtcc gattaaactc
     4621 tcgcccacat ctcccgttta ccgcggctcc tcctcggggc cctcctctcc ggccagagtc
     4681 agcacaacac ccagatgacg ccactacacg gcctgcggga gctccggctt ctcgtcctcc
     4741 ggtctccacc ctgagggagc accgacccgg tgccgccgga gctggccctg tgcgcatgct
     4801 cagtagctgc gaatgcatcc taggcgcgtc ctcctctgat ccccgtgtaa gactgccctg
     4861 gtgtcggcac ttaggaatgt gtaaatggta aagtctgatg tgcaaacgtt ttaccatagt
     4921 tagagccaaa agaaagacac ttgcaattgt tcttgagcaa tgaactttca ctgcagaatt
     4981 tcaggttagt tacaaaaagc tcagttttca atatacattg aataatcatt gtgtactgca
     5041 ccgatatgtg tgtatattta gatatacgta tatacacatg ctgcggttct gaatttcatt
     5101 ttttataaca tgaagtgctg acatatttta gtgaaggtca gcagttttct aacttgtgcc
     5161 taagaattat tgggaaatga aaatgcattt ctatctagct tcccaggaat atttctaccc
     5221 aaaatagaaa aaggaaaaaa aaaaagatac agagaagaag cgcctttcaa ctcaccacca
     5281 agtggtactc tctttaacac gaacaccagc tatttgtgaa cggtaactgc ctttggaaca
     5341 atcagcttct cagtcaacat gatgtgagat cactattatt ccattcgcaa gttttaatta
     5401 ttgatactcc tgtcatgagc ggataaggga gagcagtggg aaaccctaag ggggtttagc
     5461 agttttgcag atgttaccca tgacagtgac tcatctctga tagtcttgta aacacaagtt
     5521 ttgctttttt cctaaatggc atctcagact cggtcattaa gctattgttg caccctccgg
     5581 aaaacatggc agagcatgac ctttgagtaa gagtgaggat gaccttgcag atgactgtgc
     5641 ccattcgcgc tccatcctca tgaaggaaat tgctgccaag gtctgtattt tgaccaggca
     5701 cagaggggga acatcactcc agctttccat gtggttcact ctgatgcgat gctgtaaatg
     5761 atcaactctt tgaaatagga ccctcaggcc cccatttcct agcagccccc cttcagtttg
     5821 gttctacaac tcaacccctt cactgcacat tgagatggct caggggttct agcaggggct
     5881 tccagaaaaa aaaaacacca tttctgtccc gggggaccag ttctgagctg tgctagatca
     5941 tcacacgacc acccagaaac ccacttgcac ttcctgctgg atgatcaggc aacgctgctg
     6001 ctgaccgtgc tcccatctta gacccagaag gttctcccaa acagaggagc ccagtgaaac
     6061 agccagccag ggggcaccag ctcctggact ggcatctgtc tctaaaatgg tagaattagg
     6121 atatgaacag tactcatgta gtggtgtgga agattaggag catgatacac aaaaggaaga
     6181 agtagtttta acagatatgg tgatgatgat gatgcccttg tttcctgtat gtgacaaaga
     6241 ccctgcactt tctccctgag acccccccaa aattgtcctg agcacaggcc tgtctttgag
     6301 cgtgcccaag gcgagaagaa ccatgagggg gtcctgcagg ggccggagcc atggaacggg
     6361 gaagaaaaca gcccgcggac ggggtcggct tgtccagggc acgcctgctc ggcacacgtg
     6421 ttgccaacgt gaaggcagac atggtccctg gccctaggat gagtccacgc tgggcttccg
     6481 ggcctcaggt gcatctccag ccaacctcca agggtcttgc tccttctggg gacgtacaca
     6541 gtaaatccac atggaaacac caccatttct ctttgcttta gtggctctgc atgatactgt
     6601 gatattgagt tgggcattcc attagagtag atcttgccac attgactaaa tacacaagta
     6661 tttattctag tagcaggcac aacctgcaaa cacaaattca gttacagctt agctgtccga
     6721 attaggaacc gcttacatag ccgcacctgc taaatgcagt tacacagcaa tactgacttc
     6781 cgtgtgatgc tagaacgtgg tacagtgtat taggctgctg tggtcagagt tgtagcatcg
     6841 ttagcactaa gtaattcctc attaggtgga cttcggtgag agctttgccc taacctgccc
     6901 tgaccttggg tacttgagct aatttccacg tggccctggc ttcgtggttt gtttgttttt
     6961 tttcttttgt tacggacacc catcatgtat ggctcctcat ctgagccatc accgctcccg
     7021 aaacacatgg ggcggcagct gctgtgcctc cttctcaatt cttccacccc cccacaccat
     7081 cagaattcgg atttctctcc acgtggcgtc tgcctctgtc cccttccagg ctggagcgac
     7141 gtttccacgt tcggatgctg cagcctctgc acctgcctca gacagaccca ccagatacca
     7201 cctgtctctt cgtggcattt gggagatgcg tgggcggcct gccccccgac cgccgcccct
     7261 gcccaccaca tgctgggaca aggttctggc tggatgtcag aatggatggg ggtgggggca
     7321 gccctggccg tgattagttg aatgaatggg gtcacaacat cccttttcct gcccctacag
     7381 tttgtgttgc atatttgtgt ttaaagccta ttaaaataaa cttgagggac tttctgcga
//
LOCUS       NM_001033677            1597 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens calcium binding protein 1 (CABP1), transcript variant
            3, mRNA.
ACCESSION   NM_001033677
VERSION     NM_001033677.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1597)
  AUTHORS   Di Jeso B, Morishita Y, Treglia AS, Lofrumento DD, Nicolardi G,
            Beguinot F, Kellogg AP and Arvan P.
  TITLE     Transient covalent interactions of newly synthesized thyroglobulin
            with oxidoreductases of the endoplasmic reticulum
  JOURNAL   J Biol Chem 289 (16), 11488-11496 (2014)
   PUBMED   24599957
  REMARK    GeneRIF: the faster migrating Tg adduct C primarily engages the
            CaBP1/P5 oxidoreductase, whereas the slower migrating Tg adduct A
            primarily engages ERp72.
REFERENCE   2  (bases 1 to 1597)
  AUTHORS   Seeger C, Gorny X, Reddy PP, Seidenbecher C and Danielson UH.
  TITLE     Kinetic and mechanistic differences in the interactions between
            caldendrin and calmodulin with AKAP79 suggest different roles in
            synaptic function
  JOURNAL   J Mol Recognit 25 (10), 495-503 (2012)
   PUBMED   22996592
  REMARK    GeneRIF: Different kinetics of Ca-dependent binding step between
            caldendrin and calmodulin with AKAP79 suggest their different roles
            in synaptic function.
REFERENCE   3  (bases 1 to 1597)
  AUTHORS   Gorny X, Mikhaylova M, Seeger C, Reddy PP, Reissner C, Schott BH,
            Helena Danielson U, Kreutz MR and Seidenbecher C.
  TITLE     AKAP79/150 interacts with the neuronal calcium-binding protein
            caldendrin
  JOURNAL   J Neurochem 122 (4), 714-726 (2012)
   PUBMED   22693956
  REMARK    GeneRIF: We demonstrate that calmodulin and caldendrin compete for a
            partially overlapping binding site on AKAP79 and that their binding
            is differentially dependent on calcium
REFERENCE   4  (bases 1 to 1597)
  AUTHORS   Park S, Li C and Ames JB.
  TITLE     Nuclear magnetic resonance structure of calcium-binding protein 1 in
            a Ca(2+) -bound closed state: implications for target recognition
  JOURNAL   Protein Sci 20 (8), 1356-1366 (2011)
   PUBMED   21608059
  REMARK    GeneRIF: Present the NMR structure of full-length CaBP1 with Ca(2+)
            bound at the first, third, and fourth EF-hands.
REFERENCE   5  (bases 1 to 1597)
  AUTHORS   Oz S, Tsemakhovich V, Christel CJ, Lee A and Dascal N.
  TITLE     CaBP1 regulates voltage-dependent inactivation and activation of
            Ca(V)1.2 (L-type) calcium channels
  JOURNAL   J Biol Chem 286 (16), 13945-13953 (2011)
   PUBMED   21383011
  REMARK    GeneRIF: CaBP1 regulates voltage-dependent inactivation and
            activation of Ca(V)1.2 (L-type) calcium channels
REFERENCE   6  (bases 1 to 1597)
  AUTHORS   Zhou H, Kim SA, Kirk EA, Tippens AL, Sun H, Haeseleer F and Lee A.
  TITLE     Ca2+-binding protein-1 facilitates and forms a postsynaptic complex
            with Cav1.2 (L-type) Ca2+ channels
  JOURNAL   J Neurosci 24 (19), 4698-4708 (2004)
   PUBMED   15140941
  REMARK    GeneRIF: We describe a new role for CaBP1 in regulation of Ca2+
            influx through Ca(v)1.2 (L-type) Ca2+ channels. CaBP1 interacts
            directly with the alpha1 subunit of Ca(v)1.2 at sites that also bind
            Calmodulin
REFERENCE   7  (bases 1 to 1597)
  AUTHORS   Haynes LP, Tepikin AV and Burgoyne RD.
  TITLE     Calcium-binding protein 1 is an inhibitor of agonist-evoked,
            inositol 1,4,5-trisphosphate-mediated calcium signaling
  JOURNAL   J Biol Chem 279 (1), 547-555 (2004)
   PUBMED   14570872
  REMARK    GeneRIF: CaBP1 is able to specifically regulate InsP3
            receptor-mediated alterations in [Ca2+]i during agonist stimulation.
REFERENCE   8  (bases 1 to 1597)
  AUTHORS   Lee A, Westenbroek RE, Haeseleer F, Palczewski K, Scheuer T and
            Catterall WA.
  TITLE     Differential modulation of Ca(v)2.1 channels by calmodulin and
            Ca2+-binding protein 1
  JOURNAL   Nat Neurosci 5 (3), 210-217 (2002)
   PUBMED   11865310
  REMARK    GeneRIF: enhances inactivation, causes a depolarizing shift in the
            voltage dependence of activation, and does not support
            Ca2+-dependent facilitation of Ca(v)2.1 channels
REFERENCE   9  (bases 1 to 1597)
  AUTHORS   Haeseleer F, Sokal I, Verlinde CL, Erdjument-Bromage H, Tempst P,
            Pronin AN, Benovic JL, Fariss RN and Palczewski K.
  TITLE     Five members of a novel Ca(2+)-binding protein (CABP) subfamily with
            similarity to calmodulin
  JOURNAL   J Biol Chem 275 (2), 1247-1260 (2000)
   PUBMED   10625670
REFERENCE   10  (bases 1 to 1597)
  AUTHORS   Yamaguchi K, Yamaguchi F, Miyamoto O, Sugimoto K, Konishi R, Hatase
            O and Tokuda M.
  TITLE     Calbrain, a novel two EF-hand calcium-binding protein that
            suppresses Ca2+/calmodulin-dependent protein kinase II activity in
            the brain
  JOURNAL   J Biol Chem 274 (6), 3610-3616 (1999)
   PUBMED   9920909
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC030201.1, AL565119.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000316803.8/ ENSP00000317310.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC030201.1 and AL533429.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 8, 2021 this sequence version replaced NM_001033677.1.
            Summary: Calcium binding proteins are an important component of
            calcium mediated cellular signal transduction. This gene encodes a
            protein that belongs to a subfamily of calcium binding proteins
            which share similarity to calmodulin. The protein encoded by this
            gene regulates the gating of voltage-gated calcium ion channels.
            This protein inhibits calcium-dependent inactivation and supports
            calcium-dependent facilitation of ion channels containing
            voltage-dependent L-type calcium channel subunit alpha-1C. This
            protein also regulates calcium-dependent activity of inositol
            1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium
            channels, and transient receptor potential channel TRPC5. This gene
            is predominantly expressed in retina and brain. Alternative
            splicing results in multiple transcript variants encoding disinct
            isoforms. [provided by RefSeq, Jul 2012].
            Transcript Variant: This variant (3) is the longest transcript and
            encodes the longest isoform (3).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1597
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..1597
                     /gene="CABP1"
                     /gene_synonym="CALBRAIN; HCALB_BR"
                     /note="calcium binding protein 1"
                     /db_xref="GeneID:9478"
                     /db_xref="HGNC:HGNC:1384"
                     /db_xref="MIM:605563"
     misc_feature    43..45
                     /gene="CABP1"
                     /gene_synonym="CALBRAIN; HCALB_BR"
                     /note="upstream in-frame stop codon"
     CDS             61..1173
                     /gene="CABP1"
                     /gene_synonym="CALBRAIN; HCALB_BR"
                     /note="isoform 3 is encoded by transcript variant 3;
                     calcium binding protein 5; caldendrin"
                     /codon_start=1
                     /product="calcium-binding protein 1 isoform 3"
                     /protein_id="NP_001028849.1"
                     /db_xref="CCDS:CCDS31913.1"
                     /db_xref="GeneID:9478"
                     /db_xref="HGNC:HGNC:1384"
                     /db_xref="MIM:605563"
                     /translation="MGGGDGAAFKRPGDGARLQRVLGLGSRREPRSLPAGGPAPRRTAP
                     PPPGHASAGPAAMSSHIAKSESKTSLLKAAAAAASGGSRAPRHGPARDPGLPSRRLPGS
                     CPATPQSSGDPSSRRPLCRPAPREEGARGSQRVLPQAHCRPREALPAAASRPSPSSPLP
                     PARGRDGEERGLSPALGLRGSLRARGRGDSVPAAASEADPFLHRLRPMLSSAFGQDRSL
                     RPEEIEELREAFREFDKDKDGYINCRDLGNCMRTMGYMPTEMELIELSQQINMNLGGHV
                     DFDDFVELMGPKLLAETADMIGVKELRDAFREFDTNGDGEISTSELREAMRKLLGHQVG
                     HRDIEEIIRDVDLNGDGRVDFEEFVRMMSR"
     misc_feature    61..654
                     /gene="CABP1"
                     /gene_synonym="CALBRAIN; HCALB_BR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NZU7.5);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1027..1029
                     /gene="CABP1"
                     /gene_synonym="CALBRAIN; HCALB_BR"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14685260; propagated from
                     UniProtKB/Swiss-Prot (Q9NZU7.5); phosphorylation site"
     regulatory      1575..1580
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CABP1"
                     /gene_synonym="CALBRAIN; HCALB_BR"
                     /note="hexamer: AATAAA"
     polyA_site      1597
                     /gene="CABP1"
                     /gene_synonym="CALBRAIN; HCALB_BR"
                     /note="major polyA site"
ORIGIN
        1 agatctgcac cgccagccgc cgggagctcc gggctccggg cgtagaggct gcgctgtcac
       61 atgggcggcg gcgacggggc cgcatttaag cggccggggg acggcgcccg cctccagcgc
      121 gtcctcgggc ttggctcccg ccgggagccc cgttctctgc ccgccggggg ccccgcgccg
      181 cgccgcaccg cgccgccccc gccgggccat gcgagcgcgg gccccgccgc gatgagctcg
      241 cacatcgcca aaagcgagtc caagacgtcg ctgctgaagg cggcggcggc ggcggcgagc
      301 gggggcagcc gggctccccg ccacggccct gcccgggacc cggggctgcc tagccgccgg
      361 ctacccggct cctgcccggc gacgccgcag tcgtccgggg accccagttc gcggaggccc
      421 ctgtgccggc cggcgccgcg agaggagggc gcgcggggga gccagcgtgt gctcccccag
      481 gcgcactgca ggccccggga ggcgctgccg gccgcggcgt cccgaccttc gccgtcgtcg
      541 ccgctgccgc cggcccgcgg gcgggatggg gaggaacggg gactgtcccc ggcgctcggc
      601 ctccggggct ctctgcgagc ccggggccgc ggggactccg ttccagccgc cgcgtccgag
      661 gcggacccgt tcctccaccg gctgcgcccc atgctcagct ccgcctttgg ccaggataga
      721 tcactgcgac cagaggaaat tgaagagctc cgagaggcct tcagagaatt cgacaaggac
      781 aaggatggct acatcaactg ccgggatctg ggcaactgca tgcgcaccat gggctacatg
      841 cccaccgaga tggagctcat cgaactgtcc cagcagatca acatgaacct gggtggccat
      901 gtagattttg atgacttcgt ggagctaatg gggcctaaac tcctggcaga gacagcagat
      961 atgattggtg taaaggaact gcgagatgct ttccgagagt ttgacaccaa tggtgatggg
     1021 gaaataagca ccagtgagct gcgagaggct atgaggaagc tcctgggtca tcaggtggga
     1081 caccgagaca tagaggaaat tatccgagat gtggacctca atggggatgg acgagtggac
     1141 tttgaagagt ttgtccggat gatgtcccgc tgaggccgcg agggcccctc caggactgcc
     1201 aagctcccaa aggcggggct aagaggagct agagcttgcc tcacccgctg tagccgccga
     1261 gagcccagga tgtactggcg gatggggcct gcctgcaccc cggggaggcg cccaccccgg
     1321 acccccaccc ctccgcactg tgaaagacta actcctgcaa ctggaaagcg ggggcgcccg
     1381 ccgacgagga ggccaccgtg ccaagccggc agaggtcatg ccaggcgcca agggccatgt
     1441 gcccagctgc tgctggctgg gtgggccagg gagcccgcca gcagacccca cacagcatgt
     1501 ccgccccagg gcaaagcctc ccaccttcgc tctgcgcccg tcccagctcg cctcagccct
     1561 gttatctcag aaccaataaa aatatttcca agagcaa
//
LOCUS       NM_001033678             968 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens tRNA phosphotransferase 1 (TRPT1), transcript variant
            1, mRNA.
ACCESSION   NM_001033678
VERSION     NM_001033678.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 968)
  AUTHORS   Yang X, Wang J, Li S, Li X, Gong J, Yan Z, Zhou H, Wu C and Liu X.
  TITLE     Structural and biochemical insights into the molecular mechanism of
            TRPT1 for nucleic acid ADP-ribosylation
  JOURNAL   Nucleic Acids Res 51 (14), 7649-7665 (2023)
   PUBMED   37334830
  REMARK    GeneRIF: Structural and biochemical insights into the molecular
            mechanism of TRPT1 for nucleic acid ADP-ribosylation.
REFERENCE   2  (bases 1 to 968)
  AUTHORS   Weixler L, Feijs KLH and Zaja R.
  TITLE     ADP-ribosylation of RNA in mammalian cells is mediated by TRPT1 and
            multiple PARPs
  JOURNAL   Nucleic Acids Res 50 (16), 9426-9441 (2022)
   PUBMED   36018800
  REMARK    GeneRIF: ADP-ribosylation of RNA in mammalian cells is mediated by
            TRPT1 and multiple PARPs.
REFERENCE   3  (bases 1 to 968)
  AUTHORS   Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee
            JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K,
            Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z,
            Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN,
            Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A,
            Boucher G, Brand S, Buning C, Cohain A, Cichon S, D'Amato M, De Jong
            D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR,
            Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J,
            Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH,
            Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees
            CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W,
            Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter
            JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms
            LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget
            HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ,
            Zeissig S, Zhang B, Zhang CK, Zhao H, Silverberg MS, Annese V,
            Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt
            EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC and Cho JH.
  CONSRTM   International IBD Genetics Consortium (IIBDGC)
  TITLE     Host-microbe interactions have shaped the genetic architecture of
            inflammatory bowel disease
  JOURNAL   Nature 491 (7422), 119-124 (2012)
   PUBMED   23128233
REFERENCE   4  (bases 1 to 968)
  AUTHORS   Mick E, McGough J, Loo S, Doyle AE, Wozniak J, Wilens TE, Smalley S,
            McCracken J, Biederman J and Faraone SV.
  TITLE     Genome-wide association study of the child behavior checklist
            dysregulation profile
  JOURNAL   J Am Acad Child Adolesc Psychiatry 50 (8), 807-17 (2011)
   PUBMED   21784300
REFERENCE   5  (bases 1 to 968)
  AUTHORS   Hu QD, Lu H, Huo K, Ying K, Li J, Xie Y, Mao Y and Li YY.
  TITLE     A human homolog of the yeast gene encoding tRNA
            2'-phosphotransferase: cloning, characterization and complementation
            analysis
  JOURNAL   Cell Mol Life Sci 60 (8), 1725-1732 (2003)
   PUBMED   14504659
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY211494.1, SRR18074968.4178733.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000317459.11/ ENSP00000314073.6
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP006334.1 and AP005668.2.
            On Nov 22, 2018 this sequence version replaced NM_001033678.3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..968
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..968
                     /gene="TRPT1"
                     /note="tRNA phosphotransferase 1"
                     /db_xref="GeneID:83707"
                     /db_xref="HGNC:HGNC:20316"
                     /db_xref="MIM:610470"
     misc_feature    129..131
                     /gene="TRPT1"
                     /note="upstream in-frame stop codon"
     CDS             147..908
                     /gene="TRPT1"
                     /EC_number="2.7.1.160"
                     /note="isoform 1 is encoded by transcript variant 1; tRNA
                     2'-phosphotransferase 1; tRNA splicing 2'
                     phosphotransferase 1"
                     /codon_start=1
                     /product="tRNA 2'-phosphotransferase 1 isoform 1"
                     /protein_id="NP_001028850.2"
                     /db_xref="CCDS:CCDS31595.1"
                     /db_xref="GeneID:83707"
                     /db_xref="HGNC:HGNC:20316"
                     /db_xref="MIM:610470"
                     /translation="MNFSGGGRQEAAGSRGRRAPRPREQDRDVQLSKALSYALRHGALK
                     LGLPMGADGFVPLGTLLQLPQFRGFSAEDVQRVVDTNRKQRFALQLGDPSTGLLIRANQ
                     GHSLQVPKLELMPLETPQALPPMLVHGTFWKHWPSILLKGLSCQGRTHIHLAPGLPGDP
                     GIISGMRSHCEIAVFIDGPLALADGIPFFRSANGVILTPGNTDGFLLPKYFKEALQLRP
                     TRKPLSLAGDEETECQSSPKHSSRERRRIQQ"
     misc_feature    147..233
                     /gene="TRPT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TN4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    147..149
                     /gene="TRPT1"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q86TN4.2); acetylation site"
     misc_feature    819..905
                     /gene="TRPT1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86TN4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    864..866
                     /gene="TRPT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86TN4.2); phosphorylation site"
     regulatory      904..909
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRPT1"
                     /note="hexamer: AATAAA"
     regulatory      919..924
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRPT1"
                     /note="hexamer: TATAAA"
     regulatory      926..931
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRPT1"
                     /note="hexamer: AAGAAA"
     polyA_site      931
                     /gene="TRPT1"
                     /note="major polyA site"
     polyA_site      940
                     /gene="TRPT1"
                     /note="major polyA site"
     regulatory      946..951
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRPT1"
                     /note="hexamer: AAGAAA"
     polyA_site      951
                     /gene="TRPT1"
                     /note="major polyA site"
     polyA_site      968
                     /gene="TRPT1"
                     /note="major polyA site"
ORIGIN
        1 gtccccgccg ccccgacgct tccgcccggt ccgtcggcac gtcggccctg cctcccggac
       61 caccctgcgg ggcgcaccag cgatctgggg tgcggggctc ggcctccctg cgctcctggc
      121 tgaccgtgtg accttgggtc ttaaccatga acttctctgg aggagggagg caggaagcag
      181 cagggtccag gggtagaagg gctcccagac cccgagaaca ggaccgagac gtgcagctgt
      241 ccaaggctct gtcctatgcc ctgcgccatg gggccttgaa gctggggctt cccatgggag
      301 ctgatggctt cgtgcccctg ggcaccctcc tgcagttgcc ccagttccgc ggcttctctg
      361 ctgaagatgt gcagcgcgtg gtggacacca ataggaagca gcggttcgcc ctgcagctgg
      421 gggatcccag cactggcctt ctcatccggg ccaaccaggg ccattccctg caggtaccta
      481 agttggagct gatgcccctg gagacaccgc aggccctgcc cccgatgcta gtccatggta
      541 cattctggaa gcactggcca tccatcctac tcaaaggcct gtcctgccag ggaaggacgc
      601 acattcacct ggccccagga ctgcctggag accccggtat catcagtggc atgcggtccc
      661 attgtgaaat agctgtgttc atcgatggac ccctggctct ggcagatgga atacccttct
      721 tccgctctgc caatggggtg attctgactc cagggaatac tgatggcttc ctccttccca
      781 agtacttcaa ggaggccctg cagctacgcc ctacccgaaa gcccctttcc ttggctggtg
      841 atgaagagac agagtgtcag agtagcccca agcacagctc cagagaaagg aggaggatcc
      901 aacaataaaa tattaattta taaaaaagaa attttaaaaa gtaacaagaa agaactcgtt
      961 tgaaacca
//
LOCUS       NM_001033719            1849 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 404 (ZNF404), mRNA.
ACCESSION   NM_001033719
VERSION     NM_001033719.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1849)
  AUTHORS   Masoodi TA, Banaganapalli B, Vaidyanathan V, Talluri VR and Shaik
            NA.
  TITLE     Computational Analysis of Breast Cancer GWAS Loci Identifies the
            Putative Deleterious Effect of STXBP4 and ZNF404 Gene Variants
  JOURNAL   J Cell Biochem 118 (12), 4296-4307 (2017)
   PUBMED   28422318
  REMARK    GeneRIF: The deleterious SNPs localized in STXBP4 and ZNF404 genes
            were identified which might play a role in breast cancer development
            by dysregulating its gene expression.
REFERENCE   2  (bases 1 to 1849)
  AUTHORS   Liu Y, Walavalkar NM, Dozmorov MG, Rich SS, Civelek M and Guertin
            MJ.
  TITLE     Identification of breast cancer associated variants that modulate
            transcription factor binding
  JOURNAL   PLoS Genet 13 (9), e1006761 (2017)
   PUBMED   28957321
  REMARK    GeneRIF: We used The Cancer Genome Atlas breast cancer patient data
            to identify ANKLE1 and ZNF404 as the target genes of candidate TF
            binding site SNPs in the 19p13.11 and 19q13.31 GWAS-identified loci.
            These SNPs are associated with the expression of ZNF404 and ANKLE1
            in breast tissue. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1849)
  AUTHORS   Davis OS, Band G, Pirinen M, Haworth CM, Meaburn EL, Kovas Y,
            Harlaar N, Docherty SJ, Hanscombe KB, Trzaskowski M, Curtis CJ,
            Strange A, Freeman C, Bellenguez C, Su Z, Pearson R, Vukcevic D,
            Langford C, Deloukas P, Hunt S, Gray E, Dronov S, Potter SC,
            Tashakkori-Ghanbaria A, Edkins S, Bumpstead SJ, Blackwell JM, Bramon
            E, Brown MA, Casas JP, Corvin A, Duncanson A, Jankowski JA, Markus
            HS, Mathew CG, Palmer CN, Rautanen A, Sawcer SJ, Trembath RC,
            Viswanathan AC, Wood NW, Barroso I, Peltonen L, Dale PS, Petrill SA,
            Schalkwyk LS, Craig IW, Lewis CM, Price TS, Donnelly P, Plomin R and
            Spencer CC.
  CONSRTM   Wellcome Trust Case Control Consortium 2
  TITLE     The correlation between reading and mathematics ability at age
            twelve has a substantial genetic component
  JOURNAL   Nat Commun 5, 4204 (2014)
   PUBMED   25003214
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1849)
  AUTHORS   Shannon M, Hamilton AT, Gordon L, Branscomb E and Stubbs L.
  TITLE     Differential expansion of zinc-finger transcription factor loci in
            homologous human and mouse gene clusters
  JOURNAL   Genome Res 13 (6A), 1097-1110 (2003)
   PUBMED   12743021
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC101333.1, SRR1660805.101295.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467146,
            SAMEA2467150 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000587539.2/ ENSP00000466051.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC101333.1, AC011508.5 and BQ188692.1.
            On May 17, 2019 this sequence version replaced NM_001033719.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1849
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.31"
     gene            1..1849
                     /gene="ZNF404"
                     /note="zinc finger protein 404"
                     /db_xref="GeneID:342908"
                     /db_xref="HGNC:HGNC:19417"
     CDS             1..1659
                     /gene="ZNF404"
                     /codon_start=1
                     /product="zinc finger protein 404"
                     /protein_id="NP_001028891.2"
                     /db_xref="CCDS:CCDS59394.1"
                     /db_xref="GeneID:342908"
                     /db_xref="HGNC:HGNC:19417"
                     /translation="MARVPLTFSDVAIDFSQEEWEYLNSDQRDLYRDVMLENYTNLVSL
                     DFNFTTESNKLSSEKRNYEVNAYHQETWKRNKTFNLMRFIFRTDPQYTIEFGRQQRPKV
                     GCFSQMIFKKHKSLPLHKRNNTREKSYECKEYKKGFRKYLHLTEHLRDHTGVIPYECNE
                     CGKAFVVFQHFIRHRKIHTDLKPYECNGCEKAFRFYSQLIQHQIIHTGMKPYECKQCGK
                     AFRRHSHLTEHQKIHVGLKPFECKECGETFRLYRHMCLHQKIHHGVKPYKCKECGKAFG
                     HRSSLYQHKKIHSGEKPYKCEQCEKAFVRSYLLVEHQRSHTGEKPHECMECGKAFGKGS
                     SLLKHKRIHSSEKLYDCKDCGKAFCRGSQLTQHQRIHTGEKPHECKECGKTFKLHSYLI
                     QHQIIHTDLKPYECKQCGKAFSRVGDLKTHQSIHAGEKPYECKECGKTFRLNSQLIYHQ
                     TIHTGLKPYVCKECKKAFRSISGLSQHKRIHTGEKPYECKECDKAFNRSDRLTQHETIH
                     TGVKPQKCKECGKAFSHCYQLSQHQRFHHGERLLM"
     regulatory      1830..1835
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF404"
                     /note="hexamer: AATAAA"
     polyA_site      1849
                     /gene="ZNF404"
                     /note="major polyA site"
ORIGIN
        1 atggcccggg tgccattgac attcagcgat gttgccatag acttctctca ggaggagtgg
       61 gaatatttaa actcggatca gagggatttg tacagagatg tgatgttgga gaattatact
      121 aacttggtct cattggactt taatttcaca actgaaagca acaagttatc ttcagaaaaa
      181 agaaattatg aagtaaatgc gtaccatcag gagacatgga aaagaaataa aaccttcaac
      241 cttatgaggt ttattttcag aactgaccca cagtacacaa ttgaatttgg gagacaacag
      301 agacctaaag tgggatgttt tagtcaaatg atattcaaaa aacataaatc ccttcctcta
      361 cataagagaa ataacacaag agagaaatca tatgagtgta aggaatataa gaagggcttt
      421 agaaaatatt tgcaccttac tgaacatctg agagaccata ctggtgtgat accctatgaa
      481 tgtaatgaat gtggaaaagc atttgtagtt ttccagcatt ttattagaca tcgaaaaatc
      541 cacactgatt tgaaacccta tgaatgcaat ggatgtgaga aggcctttag gttttattca
      601 cagcttattc agcatcagat aattcatact ggtatgaaac cctatgaatg taagcaatgc
      661 gggaaggctt ttagacgtca ttctcacctt acagaacatc agaaaattca tgttggcttg
      721 aaaccctttg aatgtaagga atgtggggaa acgtttagat tatatcgaca tatgtgtctg
      781 catcagaaaa ttcatcatgg tgtgaaaccc tacaaatgta aagaatgtgg aaaggctttt
      841 ggtcatcgtt caagtcttta ccaacataag aaaattcatt ctggtgagaa accatataaa
      901 tgtgaacaat gtgaaaaggc ctttgttcgc agctatctac ttgttgaaca tcaaagaagt
      961 catactggtg agaaacctca tgaatgcatg gaatgtggaa aggcttttgg taagggctca
     1021 agccttctta aacataagag aattcatagt agtgagaaac tctatgattg taaggattgt
     1081 ggaaaggcct tttgtagagg ctctcaactt acacagcatc agagaattca tactggtgag
     1141 aagccacatg aatgtaaaga atgtgggaag acttttaagc ttcattcata tcttattcaa
     1201 catcagataa ttcatactga tttgaagcca tatgaatgta agcaatgtgg gaaagccttc
     1261 agtcgtgttg gagaccttaa gacacatcaa tcaattcatg ctggggagaa accctatgaa
     1321 tgtaaggaat gtggaaaaac ctttagactt aattctcaac taatttatca tcagacaatt
     1381 catactggtt tgaaacccta tgtatgtaaa gaatgtaaga aggcctttcg ttctatctca
     1441 ggtctttctc aacataagag aattcatact ggtgaaaaac cctatgaatg taaagaatgt
     1501 gataaggcct ttaatcgcag tgatcgactt actcaacatg agacaattca tactggtgtg
     1561 aaaccacaga aatgcaaaga atgtggtaag gcctttagtc attgctatca acttagtcaa
     1621 catcaaagat ttcaccatgg tgagagactc ttaatgtaat gagagggaaa gcctttagcc
     1681 atggcacatt tttactgttg tcactattat gatgctatag tgaagattaa actagttaat
     1741 atagaatata aatacttgga aaggcatctg gcacatcgta tttgcttact aaatacatta
     1801 tttttatgat aattgttaga attactaaaa ataaatctta tagaaggaa
//
LOCUS       NM_001033723           14386 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 704 (ZNF704), transcript variant 1,
            mRNA.
ACCESSION   NM_001033723
VERSION     NM_001033723.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 14386)
  AUTHORS   Yang C, Wu J, Liu X, Wang Y, Liu B, Chen X, Wu X, Yan D, Han L, Liu
            S, Shan L and Shang Y.
  TITLE     Circadian Rhythm Is Disrupted by ZNF704 in Breast Carcinogenesis
  JOURNAL   Cancer Res 80 (19), 4114-4128 (2020)
   PUBMED   32651256
  REMARK    GeneRIF: Circadian Rhythm Is Disrupted by ZNF704 in Breast
            Carcinogenesis.
REFERENCE   2  (bases 1 to 14386)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 14386)
  AUTHORS   Cheng A, Zhao S, FitzGerald LM, Wright JL, Kolb S, Karnes RJ,
            Jenkins RB, Davicioni E, Ostrander EA, Feng Z, Fan JB, Dai JY and
            Stanford JL.
  TITLE     A four-gene transcript score to predict metastatic-lethal
            progression in men treated for localized prostate cancer:
            Development and validation studies
  JOURNAL   Prostate 79 (14), 1589-1596 (2019)
   PUBMED   31376183
  REMARK    GeneRIF: tumor marker zinc finger protein 704 as part of a four gene
            transcript score has prognostic value for metastatic-lethal
            progression in men treated for localized prostate cancer
REFERENCE   4  (bases 1 to 14386)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S, Das
            PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A, Ginno
            PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of human
            transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK131274.1, SRR7346977.2555627.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467147
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000327835.7/ ENSP00000331462.3
            RefSeq Select criteria      :: based on computational evidence
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK131274.1, BX112159.1, AC022598.10, BC004287.1 and BM683148.1.
            On Nov 22, 2018 this sequence version replaced NM_001033723.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..14386
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.13"
     gene            1..14386
                     /gene="ZNF704"
                     /gene_synonym="Gig1"
                     /note="zinc finger protein 704"
                     /db_xref="GeneID:619279"
                     /db_xref="HGNC:HGNC:32291"
     misc_feature    47..49
                     /gene="ZNF704"
                     /gene_synonym="Gig1"
                     /note="upstream in-frame stop codon"
     CDS             233..1471
                     /gene="ZNF704"
                     /gene_synonym="Gig1"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="zinc finger protein 704 isoform 1"
                     /protein_id="NP_001028895.1"
                     /db_xref="CCDS:CCDS34913.1"
                     /db_xref="GeneID:619279"
                     /db_xref="HGNC:HGNC:32291"
                     /translation="MTFTFQSEDLKRDCGKKMSHQHVFSLAMEEDVKTADTKKASRILD
                     HEKENTRSICLLEQKRKVVSSNIDVPPARKSSEELDMDKVTAAMVLTSLSTSPLVRSPP
                     VRPNESLSGSWKEGGCVPSSTSSSGYWSWSAPSDQSNPSTPSPPLSADSFKPFRSPAQP
                     DDGIDEAEASNLLFDEPIPRKRKNSMKVMFKCLWKNCGKVLSTAAGIQKHIRTIHLGRV
                     GDSDYSDGEEDFYYTEIKLNTDSVADGLSSLAPVSPSQSLASPPTFPIPDSSRTETPCA
                     KTETKLMTPLSRSAPTTLYLVHTDHAYQATPPVTIPGSAKFTPNGSSFSISWQSPPVTF
                     TGIPVSPTHHPVGTGEQRQHAHTVLSSPPRGTVSLRKPRGEGKKCRKVYGMENRDMWCT
                     ACRWKKACQRFLD"
     misc_feature    524..733
                     /gene="ZNF704"
                     /gene_synonym="Gig1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNC4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    905..907
                     /gene="ZNF704"
                     /gene_synonym="Gig1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ERQ3; propagated from
                     UniProtKB/Swiss-Prot (Q6ZNC4.1); phosphorylation site"
     misc_feature    914..916
                     /gene="ZNF704"
                     /gene_synonym="Gig1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9ERQ3; propagated from
                     UniProtKB/Swiss-Prot (Q6ZNC4.1); phosphorylation site"
     misc_feature    995..1066
                     /gene="ZNF704"
                     /gene_synonym="Gig1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNC4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1184..1468
                     /gene="ZNF704"
                     /gene_synonym="Gig1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNC4.1);
                     Region: Sufficient for binding to RE2 sequence motifs.
                     /evidence=ECO:0000250|UniProtKB:Q9ERQ3"
     misc_feature    1283..1369
                     /gene="ZNF704"
                     /gene_synonym="Gig1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNC4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1379..1393
                     /gene="ZNF704"
                     /gene_synonym="Gig1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNC4.1);
                     Region: CR1. /evidence=ECO:0000250|UniProtKB:Q9ERQ3"
     misc_feature    1433..1447
                     /gene="ZNF704"
                     /gene_synonym="Gig1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZNC4.1);
                     Region: CR2. /evidence=ECO:0000250|UniProtKB:Q9ERQ3"
     regulatory      14359..14364
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF704"
                     /gene_synonym="Gig1"
                     /note="hexamer: AATAAA"
     polyA_site      14386
                     /gene="ZNF704"
                     /gene_synonym="Gig1"
                     /note="major polyA site"
ORIGIN
        1 acacaagctc aggagtagct gccatgcaca tcagtgtcca ttaaaatgac ttgtagcaaa
       61 tctctacgtt caaagtctaa ctttgacaga caaccttact tccagcgaag tctactcccc
      121 tccctccgga gggaagaatg ggctgcggtt aagcgtttgc cctggtgtca gggccaactg
      181 cttcgaagcg ccagactttc ggagactgtg ggtggggagc attaagcggg aaatgacctt
      241 cacatttcag tcagaggact taaaacgtga ctgtggtaaa aaaatgtctc atcaacacgt
      301 gttttccttg gccatggagg aagatgtgaa aacagcagac accaaaaaag ccagccggat
      361 ccttgaccat gaaaaagaaa acactcgctc catctgtctc cttgagcaaa aaagaaaagt
      421 tgtttcctcc aacattgatg ttcctccagc aaggaaatct tcagaggaac tagacatgga
      481 caaggtgaca gcagcaatgg tactaaccag cttgtcgact agccctttgg ttcgaagtcc
      541 tcccgtgcgg ccgaacgaga gcctcagcgg atcctggaag gagggcggct gcgtgccttc
      601 cagcaccagc agcagcggct actggagctg gagcgccccc agcgaccagt ccaacccgtc
      661 cacgccgtcg ccgccgctct cggctgacag cttcaagccc ttccgcagcc ccgcgcagcc
      721 agacgacggc atcgacgagg cggaggccag caacctgctc ttcgacgagc ccattcccag
      781 gaaaagaaag aattccatga aggtgatgtt caaatgcctc tggaaaaact gtgggaaggt
      841 gctgagcact gcagcaggta tccagaaaca catccgaacc atccatctgg ggcgcgttgg
      901 agactctgac tacagtgatg gagaagagga cttttactac actgagatca agctcaacac
      961 agactcagtg gcagacgggc tgagcagcct ggccccggtc tcaccttccc agtccctggc
     1021 ttcacctcct actttcccca tcccagattc aagccgaaca gaaactcctt gtgccaaaac
     1081 ggagactaag ttgatgacgc cgttgagccg ctcagctccc accaccctct acctcgtgca
     1141 cactgaccat gcttaccagg ccacaccccc tgtgaccatt ccaggatcgg ccaagttcac
     1201 ccccaatggc agcagcttca gcatttcctg gcaatctcct ccggtcactt tcacaggcat
     1261 cccagtgtca cccacacatc atccggtggg cacaggagag cagagacagc atgcgcacac
     1321 ggtcctgtcc tccccaccca gaggcacagt cagcttaagg aagcccaggg gagagggcaa
     1381 aaagtgtcgg aaggtgtacg ggatggagaa ccgagacatg tggtgtaccg cctgccgctg
     1441 gaagaaggcc tgccagaggt tcctcgactg agagaccccc aggcagaggg gctcagggcc
     1501 ctgagccgct cctgccctgg cctgccactg caggtgttgg aaagagcttt tcctactgaa
     1561 taaaacacag ttgaagccag gaaaagccct ttcaggaacc ttggaggaat aacagcaaaa
     1621 acacagaaaa attgtttaag tcaccaccta tgacaaaaga aagttgctct tactgagaac
     1681 ccagcttgga gcagctataa ctagtttttt ttccttcaaa agaaaagtca actttttttg
     1741 ctgtatgtct agacttaaaa ctgtggactt ctgtagcaat tgaaccaaca aagcccattt
     1801 tacctagaaa ggaggcatat tttgataagc tttctgaatt atgccatttt caagattttt
     1861 ttgacactta aaaaacaagc tacaggttat tcagtagcat ttgtacaaag atcaatactt
     1921 acttttgttg tgaataatct tttccgtatc ttccatttga cttcttggag cagtatatgt
     1981 caggatgtgt tgcaagacag cgcagcactc tgggcatctt ttctatggct ttttgtttgt
     2041 ttttctttta agaatggccc cacactgaac catggtagag ctattagttt gtagggcccc
     2101 agatggcata aactcgagaa gggattgtcc acggaaatca ccagcagact tcagcccgaa
     2161 gctgagttca ggaagtccag ctgtcactgt tgggaaacat ctaggagtct tccttggatc
     2221 cataagaagc tcttccccta aaggcagcac agctaactct actctctacc tgccacaact
     2281 cagtcaagaa ttggcacctg tagccatctg ggtaagcctc gatgcttctt tcagggatgt
     2341 gacacaaatg gcaactcgga gctatttgtt actgcttgtc tgtcaagatt gtagccaggt
     2401 taatgggtca ttttccttct ctccagactc caccactgac tgatttcaga agaggtagag
     2461 aactccaaac tgtcccagca ggtttgcttt agacaacaga gcacagccca catggcccta
     2521 cctgttcaga aagtcatgtt agatcaacaa accacttcca ttctgagtgc acttttatag
     2581 gttttatgct ttagcatgtc cgggagatga gttaattaac aatataaaca ttatgtgagt
     2641 aaatggaagg tccaaacttt aagtttttct tataaaaata ttggagctat tcatttaaga
     2701 atttgctcaa aagggaacat aacgccaaaa ggaaaatgca tgtaggtata ggaatttctc
     2761 agtttagtag ggccagggct tgcactatgt tccatttatt gggcttcgta acttacttgc
     2821 ttgtttgttt gggggatagt ggtgtgggga gaggggagtc gtcaagccct ataaataagc
     2881 tcattctcta tctacccgac tctcaattgc cctgctaaag agttatttct cctataccta
     2941 tgcaaagtag gaagagcacc ttataggagg cactgtatag ggacagggga catgggatca
     3001 gccataggaa tgttaaatga aattgcacag aggaaagttt aatatatgtc tagagattat
     3061 acatacactt ttttaagcgt aaaaagaaga catctagtaa tgacagatat tctttttata
     3121 tacaagcaaa agaaagtata aggaggttct acagtgcaac atccacaatc tgtgcattca
     3181 catattatgg gacttttatt ttttaaactc tcatataaat tttttaaaat tactccttgg
     3241 aagagatcct ggtttttttc ttcatttatt tttttcttta aaaacattta ttttaagaga
     3301 agagaaaaag agcttcatct aattttgcat cttgattacc aatcagtact agtcacagca
     3361 ccagcaatac tgtatgtttt agactgacaa ggtcagccag gaaatggcat ttttttaaac
     3421 gcagaaatgt gtttgtttcc tctactctaa cacgtccttt ctcctcctgg tgtcctgtca
     3481 ccccccatgc agcaccactg atgcgagatg atgctctggc ctggtccagg aagccctgag
     3541 ccatgggcag attgcccagt ggccttgggc ggccagagct tgtcacctgt ttaaacaagt
     3601 tcaccatgtg tttaaatgac agggtacagt cctggaccag aggtttttct cttcagcaaa
     3661 gctccctggc ccttgatcgt tggactgtta ctaatagaaa aagattcaag tcatgaagta
     3721 taaaatccat cccccatccc agaactttga aacacaagga gggagagatc tttgctatgg
     3781 agcagtcctg gagcaaagcc ccgtggcttc cacccccaga tatatacccc ataagtagtg
     3841 ctgagctcca gcttagctga gccaagctca gtccttatct ggtgttcagc cagtgcacag
     3901 gtataagcag aactacagag ctgaatgtag cttccctggg atctcttctc ctttctaaag
     3961 catttttcac acagttctgt acctcctacc caagttgggg ctgctttctg cctgctagcc
     4021 cacggctctg tgtactttct tttctggctt caggtgcaga cagaccctca gtaccttcct
     4081 ggacacagac acatattccc tggaccaagg cgtggaataa ctagtagacc accaagccac
     4141 aggtggctgg tcttgaagaa aagggattat actccttaca ggccacccag aaagctatga
     4201 attccaatat acaccactga tcgtgcaagt tagggttttt tttttttaaa cgtagcatta
     4261 ttttgttata ttttggaact aaatgaagtg ccaaattaac cagacattcg tttgatgcca
     4321 tctctgtgga accaagttct ctgtgtgtgt tcgtttggct gggaggaggg ggaggactgg
     4381 gcagactgct cccacagcag gctggcagtg gaactggagc cctggccacc gcagggagct
     4441 cagaggccaa tctacgcaaa aggcatgcaa aacaatggat tctggtccca aaatatttct
     4501 aagtaaggca tgatgtagcc ttttgatttt ttttttatcc tttgacaccc cagccttcag
     4561 aaaaggtttt tcatctctct ccaaagaagt catttcatag tgactgacag gacattctcc
     4621 agagagcgac aaagcagagt ggccagcagg cagtggtgtt aagccttggg ccttcccagc
     4681 agatgtgtgc tgcattggtg ggtgggaggc agtgtgacag cctggagaaa acacacaggt
     4741 agcaagggag tcagggggga ggtacaagag ggctgtggac acctggctct tgctcatctt
     4801 cttggtgctg atcagctggt ggtcaccatc cctaagtacc tcccagggag ctgccatttt
     4861 ctcctctggg agcagctgcc tgaagcaagg agagaatgac ctgaagggaa gtacctccgg
     4921 ccaagagtgc agggctgctg tgcctagcct gagcgggcca tctctagcag atatggactt
     4981 ctctccacca cactagctga aaagttttct cccttggttg gcaaaagcca gtgtcaggaa
     5041 aaaagctgtg ggtttctgac caagaatgtg tgcgcttagc tgcaaagtgc ctgtcagcag
     5101 ctccaggcac caacaaggtg cccttttatt agacaattcc tgcccgaaca taaccatatt
     5161 gcagatgaaa attttcaata gagaatgaca caattcttga cctttctaaa aacttttcaa
     5221 agagatagtc acatgtgtat atgttgcaaa agatttttga aactgaaatg tcctccatta
     5281 aatctcaaga gcactcgagt tttaagtctg ctgtttctgg tgtcacacta agacacactt
     5341 ttgaaagcag ccctgggttc tgaattagtt ggcactgctg aatccatgtt cccccttcat
     5401 cagactccaa agtgcagcat tcacttgcaa aggttgagag aaaagtggcc agaattgtac
     5461 atataacaga gaataccttg agaatagtag caaaatactg taaataatat tcatttcctc
     5521 agggaaaaat aaagggcatg caaaaatagg tctggagact cctgaaacta ggaagaattt
     5581 tgttatcact aaagtctttt atagtcagaa caattttttt ttcaaatgaa catggtatca
     5641 tttcaagaca aatttatgtg aactgggcag tactgacatt tgtgaggcat aggggagtgc
     5701 cctgggaaaa cggtttggag ctgacctgta gcctaaggct aacatttgaa ccacaggtgc
     5761 aatgcctggg ggtgggggag ggggacgggg tgggggtggt attcctagac tcacgtaagg
     5821 ctttttctga atgtaattgt gaatacaaag ccttgctggt cctttttatc attacccaat
     5881 ggatgactgt ttattagcta tcagcagaat tccgtaggcg aaagcaagcc gtgaacgatg
     5941 tacattttgc tttaatagca tgttagcgaa caaacttcca tggacttttg tggacaaggt
     6001 gctgcttttt ctcatgaccc tgtagaattg ctatcgacca catcttctgt agcactgacc
     6061 tgtgtgaact cagggaagaa tttgtgcata caaatgagtg gaaacagagc aggattcatg
     6121 aatatgaatg agaatgtgaa tcattttgga gaatgccctg ggcacacggg tcaactggaa
     6181 atttcatttc tctaagaaag tagccctacc agcggcacgg actgttcctg ttcctcatac
     6241 ctgtggggat tcctccatat tggaactgtt tcatgtatct tttttgcatt gtaactagcc
     6301 aaacctgaag tcagtaaata aaatgagatt agcacttttt ttaggtacca gttgtatcac
     6361 tgagtaatgc acaccaatag agcaagaaag tataaaatgt atttaagacc aactggtttg
     6421 cttattatga ctgactttga aaaagcccat atccaatgat atacatgctt taaaaggtat
     6481 atctatcgta ggaccaggaa ccaaaatggg aattttactt ctggtcctgt tttgtaaata
     6541 gttccttttt ttgaagacaa tctcatgttt tataactttt gttgtgggtc tgagaatcac
     6601 aatggtaata tgtcttggca aaacataacc tttaaataca aaaacaatta taacttaatt
     6661 ttccaaataa aacaagaaat acactgatta ggcttctaca gttctaagag acatgacact
     6721 ttggtaataa gcgtcagtac tctacttctc aagttaactg gaaatatttt acaagatgca
     6781 gtgttttgta atcacaaaga acgcagacat tttgtgagaa atgaccttgg ttttatacat
     6841 tgtagcttat tttttaaaat atagtatttt accaggcagg aagtattaat attataagta
     6901 attcttgctc accaaacaaa gggctatgtc tcttttaagc aaatgttttg atgcatatct
     6961 ttttaattaa ccctctgcag caagggtaga aatacagatc agatggaatg ggtattatag
     7021 gagaatcaag atagcaacag ctactccttt taccattact agtgtgtttt caaagtatgg
     7081 aaaaagatgc ctgaagagtc attttatata ttttaaatct aaaaagtgtt aacaggtatg
     7141 cttataggcc atgggagaaa tattcttata aattttttag tgtaaaatga taaattctgt
     7201 gtcacaaaga caagtttacc acttgaccta ccagaatcac agatacttgc atttaactag
     7261 caagtatcat ttggtggaaa tttctaaaat catagtagac aggcccaaag atagaattct
     7321 taggtgatca gtagtgttta aaataatttt gtcctcagca ctaactatat aactgtaatt
     7381 tctacataag aacaagtgct tccaaaatat agtggaggga aaaaataaaa aaggaaaata
     7441 aaaaaacaaa acaaaaagaa caagtgcttg atttttcact gtgaagaact agcaggcaca
     7501 tgaggttgtg atcagaaagt gactgagttc ccaagaacca ggaaacagag gggagttgtg
     7561 aagagtttat taaaactgta caaataattc agagctttgc caaaaccatt tcataatgct
     7621 gtacagtttt ttcaagccca ctcactgtta aaacaagaaa gcaccttttc tttctaagat
     7681 tttagtaatc caaaagctag cctaattagc caagtatgca gataacatca aaagcaaagc
     7741 tgagatagaa cagccataca cccgttgggc agctcttatg aggtggtcag aaggtcactc
     7801 agaccttggt ttcaaatagg ctttagaatc tgcacacttg aggactagaa atgcacagag
     7861 ttagggaaag ccatgtacag gcttggctcc tagtctttga gatgaggcgt cttgcaaatc
     7921 tctgttttca ctccttggaa tgtctccatt gttagcatta aagtccccaa gaagttttta
     7981 ttgctgtacg gttttgaacc caatgagtct catttccaaa agattcctaa ttctatatag
     8041 gagaggttgc aaatgtcagt gcctcagaag gaccaggcaa gttctgtaaa tgattgatgt
     8101 ggataaggca aagaggaaca caagaatggt ggagaccagg ttgaactgca gaacacatgc
     8161 cctctttgaa ggggtgccca cactcagctc tagacaatca gaaccatgca gaaatcaggc
     8221 ccagggctgc tagatcttct gacgtggaag tatgatatta cctgacacgt aagtgttgac
     8281 aactaactca aactcttggc caacactgtg cagaccaaag agaagctgta cacagacagg
     8341 tgcagcctgc agcccccagt ttcaactatt gggaaaagtg gatttcacat tccacagttg
     8401 tcaggtcagg ttcatccatc agccccacaa actcacatgt cggcactatc tgggcaacta
     8461 aaataaaaga ggggaaagag atcatttctc cccagatatc attctcatgg cagacttgaa
     8521 tatagatacg ctgagttatc cagctctctc actctgcctc cttttggcat gcccaggctg
     8581 tgccccgtaa agtgttgaat cactgttatc ctaattttct tagtgttttc taccgtggcc
     8641 actgtgatga ggggctggca aagagcagcc tcgtgccttc cgagaaggct gccaggagcc
     8701 tctgaagctt gaagcgagca cacattgcct ccttgtgcca aagcccttgg ccagcctccc
     8761 cacactcctt ccctctccat ccggcctcat gagtcttcgt taccaagtaa aattaccact
     8821 gcttcacctc tgatacagca gaagccttgc ttcagaactg gtaggcattt aggctatttc
     8881 agagtgtcca ctaacctcaa aaggaggttt ttccacatac aaaaccctag catctttgag
     8941 gggaaagcaa aatgagaata aattatgtca tgaaaaaaat tagaagttgc ttccttcatt
     9001 tagatggact aagttatttt aaactctatc ttacatcaga gtcctgatgg tgttgggata
     9061 gtcactgacc ctttcacgta tgtaataaga tacgtctcgt tcacacacta tttcatttga
     9121 tctttgtaag aacccagtgt agaataggaa tatttaaaat caacattacc cacctccaag
     9181 gccaacccag agtagtcttg aacctgagtc agcctcagta ttgcttgcaa ggaagaggga
     9241 aggggctcat taaaggcctg gctcaaacct tagtcttcca gactgactag ggacgtaaga
     9301 agacccaggg acccaccatg ttctcaaacc atctattcag tccaggcctt tcagcataga
     9361 cataaagagc ccacccgtta ctcagtcatg ttgccaagtg caaactgatt tatccccaga
     9421 tgaatccctt tactgtagca gatccctaat ccctaaattt cagccaattt ggtagttaat
     9481 tataggagtt tattagctaa atgtatgttc tgagtaaaag ttttgactct ttggggaaaa
     9541 tttattttgc tgctagcata caacatttgc tatgtatata aacttaagtc aatgccagaa
     9601 attttaaaac cagctcaaat ttataatctg taatgatcaa atcaaaacat actgtaaact
     9661 cagagttgga aacgcctggt aatatggtta agtcatgttt aaatatgaat gcaatttaaa
     9721 tgacattggc aatgcctgag atttctttca ttgtgaatga ttaaaaggca gtccaatata
     9781 tgaatggatt tcatcttacc tttctcccgt taatttacta ggtgtaacat cttgagtgta
     9841 aagtcattca caggcagttg ggttgtggag ctagaaggag cctcaaaaaa aaactttttg
     9901 gccagactcc tacatcatga acagggtttt tgatgaataa tatttattat tatgtttcta
     9961 aagtaataca gtgttggaga atgaaacagt ttagtccttt cctcttctga tggaaaagaa
    10021 tcatagcgcc gttgccatga caataacagg atgtagaaag acccatgaag aaagaaagaa
    10081 gaaagctatg gttccgaaag caggtaacca cagattttga aaggaggcag agatggtgat
    10141 taaactgtag tccttgtttt ttaaaatgtt ctttcatgtt aggcaccacc acatagttaa
    10201 taactaccaa cttctaaaga gaagatcccc ttgatttatt tatatcatga aaatactaaa
    10261 aatcaattct caagtctaat taactattac attatcttgc taggtccttt tccctaaatt
    10321 tttaattcag aaaattaacc agaattggcc agatgcagtg gttcacgcct ataatcccag
    10381 cactttggga gtccaaggca gatggatcac ttgaggtcag tagttcaaga ccagcctggc
    10441 caacagagga agaaagagtg aaaacaaaag aagaaagagg gaaaccctgt ctttactaaa
    10501 aatacaaaaa ttagtcgggc gtggtggcgc acacctgtaa ttccagctac ttgagaggct
    10561 gaggcaggag aatcccttga aactgcaggc agaggttgca gtgagccaag atttcactgc
    10621 tgcacctggg gtgagactac cattaaggaa ggaaatttcc tttaaacaga aaaaaacaaa
    10681 ggtgctcatc tatttcttct gaattctctc tacatccttg acttaagagg aaaaccagca
    10741 ctcaagaaac agctttaaaa gagaacagtc cccattctag ctaccagtct tgctttcccc
    10801 catcttggca agccccagtg aatttgccat tgaaagatta ccctcccctt tgccctcatc
    10861 tgcctgagct agaggccagg ctgttgttaa tgttttttca gttccaaagc ccctgatggg
    10921 acattcttgt ttctgtgcta ctgctttctc tctcttaaat taaggtgcaa ggggataaat
    10981 attactataa ctgggatgta aggctcagtc agtgtggcta ttccctccct tcgggggaaa
    11041 tattccatct gtctgaacgg ttttaggtga tcatgaggag agcggcttag tcacacagcc
    11101 agccacgctc atcacaaaag atttgttcag actcactgta aagaatgaca aggcagatag
    11161 ctaatccttt cactgtgcct caaagcccgc cgtgcaagtc accaacccta ccggtcctct
    11221 ccacgtgcga ggctaataga gtgatcagaa ccaggaatgt gagctgggtt ccaccttagg
    11281 aggggacaat gaggacagag caagagggct ccatgtttaa ttactccagg ctctgacttc
    11341 tgcccacaat tacagagcat gaaagcagaa ttggccttta gtaagtgaaa aggaagtggc
    11401 tcctgcagca tataattgtt ataatttcgt atttatggaa agagaaaagg acttcagtcc
    11461 actcatgttg ttaagcactt gtccctcact ccactggagc ccccttccta tgttttgggc
    11521 acagatggct gggaccgaga ggaaagagga agagcggctg ccagagtgtg aatatacccc
    11581 tcagggatat acagcggagt ttcatgataa actacccata ctttcccaaa aaaggttgag
    11641 gagcaataca taactttgca gattacaaac ccttgtttta ctttttaaac cttttttcca
    11701 tactctgctt attggaaatc gatggctgtg atgtgaccaa cacctgtgat gatagcaaag
    11761 cccctccttt cacagtctcc tgactgttcg gggaacctcc ttggtcattg gtagaaagct
    11821 ttagaaaaga cttagctttt tagggaagaa ctaaaaaatc tccaaaacat actagtccca
    11881 tgacttcgat aactgaaaat gtcctgggtg taaactaacc caggaatgtg gatcatacat
    11941 gtttttttta aaaaaaatcc ctgaatcaat attttcctac aacacaccct aaaattccta
    12001 tttttgtaat taatggttgg acagtgatca gccatttaaa cataggcttt ctggaataac
    12061 cagacactag aatagtttcc aaagtgtttt gcgtatcaaa atcctatata cttagaagaa
    12121 gaactcagga taagaaaaaa tcgctaggtc ccaaagggtt catgactatc atcagatgca
    12181 actgcgagtg gcctacggtc attttttcaa atgagaagac tggagagaga gaacaacagt
    12241 aatcacaaaa cctctgttgc ccttagtcca tgacaatgtt taaggaaact ttaaaaaatt
    12301 aagccatctt ctgaattgtt ttctacacca aatctaaaat attaaaatga aattattaaa
    12361 tatttaaaat ggggtattta gtggaaatgc aatcagtaga aaacattgct ttttagtgcc
    12421 tgctaaacaa gtaaaggaga aagaatgaag agaaaacagc agtccttcct gtgtgacact
    12481 cgtgtggaaa tgacaggcat tcacatgtca ttgagtgcta actcaaaagc taggtggcaa
    12541 tgctgtccaa tgtttagaga tcttttgaaa tataatttta ccaccattca gaggtaagta
    12601 cttgcttaac agaagtcttt aatgttagtg aatgaatgta taaaattata aactatgcat
    12661 tttcaaagag tagcatgtat tttgtatcga atccaagtaa atttttttca tagctaccta
    12721 ccacaactgc aaattattca aaataaactt ggatacatat ccttatgggg atatgggaag
    12781 cccatctata ttctcctact tgatgttttt aaagattgaa actttattct gaaacatcag
    12841 gctctaaaaa attccatcat taagatgaat aaatgggaaa tggtttattt gttacttcgt
    12901 aagcataaat gggaaatgtt ggctgttaga aaatgtgccc agttctttaa aggtggatgt
    12961 tctagtaaca ctggattaac aagcaaacaa aactgcatga agtgaacgaa tatttcattg
    13021 gataaagtta gcataggttt tatctgctgg gtttaattct caatcccaga aaaaaatatt
    13081 cttcaagggg tatcagttat agtttcaaag aacaaaatat gaaaatattg tccagcaaag
    13141 caaatcattg atcttttttc aaaattactt atattttgga aagtctatat agaatatcca
    13201 caaatttctt cagccctctt gttgatttca tattttcatg aaactttttc ccctaataat
    13261 ttgtcttcgc tctttaatca gtgctttact acattactca gcctgaaaaa atatcttttc
    13321 cttcatctga caatgtggaa ataaagaact ccatttctgt cattctggtt ctcttcagtg
    13381 tccattgaga aagtttctca actgtttgta aaatacgggg ggaaaaaaac acgcatttct
    13441 aaacctggta cttaaggtta tactggattg tttgctacct aattagaagt tattggggaa
    13501 ggggcattgt gtctttttat atgattttta gccaaatcca gatgttctga tacacatttc
    13561 tgaatacctg tctgactgta aatacagcct gtggaggttc aggttgataa acctttcacc
    13621 tgactgctcc acagccatgc tccttgccag cttctggcac attgtacata gatttgttga
    13681 atgtttaaat gatgttgttt ttctaaatgc tgttctctaa aacaattttt tgaatttctt
    13741 ttgctttcca ttgttttgga ctttgtgtgt tcgtttttta aaaaaaaaaa tgtttcctaa
    13801 atatttaaca ccaggaaaaa tatttttaaa tacactggtg ctaattgaaa cagaaggaaa
    13861 ttttcagatc gaagatgtac aatgttaaat gttcatacca gttaaactgc actttcccaa
    13921 ggggacagct ggcatctact tgaaatgggc atcaagagac caccaaatgt ttacagtttc
    13981 tgtggcccgt ttaagtgtaa aatgcagaag tggctctgtc cccccagagt taaggatttg
    14041 ctacactggt cctctggaag catttaagta gaagaaaagg cttatagtca gaatcacttt
    14101 agtaatcgtc ttctggtcct tggacttttc tgttctgtaa tgcttgtaac aatgaatatg
    14161 gtgttgccaa tctagtctga tatcattgtt gacctgtact tactttgtgg atggttctac
    14221 ctggggttgc actggcacaa acagagccag aacactggac tttcaaaaga ccattttgac
    14281 ttctacagtg tccacacaca tgaatttaaa tgcacttgta actggttaat taccatgaag
    14341 taagtctaac ttccacttaa taaaagtttt tgtgtatctg cttcta
//
LOCUS       NM_001033855            5960 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant
            a, mRNA.
ACCESSION   NM_001033855
VERSION     NM_001033855.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5960)
  AUTHORS   Cowan MJ, Yu J, Facchino J, Fraser-Browne C, Sanford U, Kawahara M,
            Dara J, Long-Boyle J, Oh J, Chan W, Chag S, Broderick L,
            Chellapandian D, Decaluwe H, Golski C, Hu D, Kuo CY, Miller HK,
            Petrovic A, Currier R, Hilton JF, Punwani D, Dvorak CC, Malech HL,
            McIvor RS and Puck JM.
  TITLE     Lentiviral Gene Therapy for Artemis-Deficient SCID
  JOURNAL   N Engl J Med 387 (25), 2344-2355 (2022)
   PUBMED   36546626
  REMARK    GeneRIF: Lentiviral Gene Therapy for Artemis-Deficient SCID.
REFERENCE   2  (bases 1 to 5960)
  AUTHORS   Watanabe G and Lieber MR.
  TITLE     Dynamics of the Artemis and DNA-PKcs Complex in the Repair of
            Double-Strand Breaks
  JOURNAL   J Mol Biol 434 (23), 167858 (2022)
   PUBMED   36270581
  REMARK    GeneRIF: Dynamics of the Artemis and DNA-PKcs Complex in the Repair
            of Double-Strand Breaks. Review article
REFERENCE   3  (bases 1 to 5960)
  AUTHORS   Watanabe G, Lieber MR and Williams DR.
  TITLE     Structural analysis of the basal state of the Artemis:DNA-PKcs
            complex
  JOURNAL   Nucleic Acids Res 50 (13), 7697-7720 (2022)
   PUBMED   35801871
  REMARK    GeneRIF: Structural analysis of the basal state of the
            Artemis:DNA-PKcs complex.
REFERENCE   4  (bases 1 to 5960)
  AUTHORS   Hognon C and Monari A.
  TITLE     Staring at the Naked Goddess: Unraveling the Structure and
            Reactivity of Artemis Endonuclease Interacting with a DNA Double
            Strand
  JOURNAL   Molecules 26 (13), 3986 (2021)
   PUBMED   34210101
  REMARK    GeneRIF: Staring at the Naked Goddess: Unraveling the Structure and
            Reactivity of Artemis Endonuclease Interacting with a DNA Double
            Strand. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5960)
  AUTHORS   Kurosawa A and Adachi N.
  TITLE     Functions and regulation of Artemis: a goddess in the maintenance of
            genome integrity
  JOURNAL   J Radiat Res 51 (5), 503-509 (2010)
   PUBMED   20543526
  REMARK    Review article
REFERENCE   6  (bases 1 to 5960)
  AUTHORS   Li L, Moshous D, Zhou Y, Wang J, Xie G, Salido E, Hu D, de Villartay
            JP and Cowan MJ.
  TITLE     A founder mutation in Artemis, an SNM1-like protein, causes SCID in
            Athabascan-speaking Native Americans
  JOURNAL   J Immunol 168 (12), 6323-6329 (2002)
   PUBMED   12055248
  REMARK    GeneRIF: A nonsense founder mutation discovered in exon 8 of Artemis
            results in the truncation of the deduced protein product and
            indicates that the SNM1-like gene (Artemis) is the gene responsible
            for SCID in Athabascan-speaking Native Americans.
REFERENCE   7  (bases 1 to 5960)
  AUTHORS   Ma Y, Pannicke U, Schwarz K and Lieber MR.
  TITLE     Hairpin opening and overhang processing by an Artemis/DNA-dependent
            protein kinase complex in nonhomologous end joining and V(D)J
            recombination
  JOURNAL   Cell 108 (6), 781-794 (2002)
   PUBMED   11955432
  REMARK    GeneRIF: DNA-PKcs regulates Artemis by both phosphorylation and
            complex formation to permit enzymatic activities that are critical
            for the hairpin-opening step of V(D)J recombination and for the 5'
            and 3' overhang processing in nonhomologous DNA end joining.
REFERENCE   8  (bases 1 to 5960)
  AUTHORS   Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M,
            Le Deist F, Tezcan I, Sanal O, Bertrand Y, Philippe N, Fischer A and
            de Villartay JP.
  TITLE     Artemis, a novel DNA double-strand break repair/V(D)J recombination
            protein, is mutated in human severe combined immune deficiency
  JOURNAL   Cell 105 (2), 177-186 (2001)
   PUBMED   11336668
REFERENCE   9  (bases 1 to 5960)
  AUTHORS   Li L, Drayna D, Hu D, Hayward A, Gahagan S, Pabst H and Cowan MJ.
  TITLE     The gene for severe combined immunodeficiency disease in
            Athabascan-speaking Native Americans is located on chromosome 10p
  JOURNAL   Am J Hum Genet 62 (1), 136-144 (1998)
   PUBMED   9443881
REFERENCE   10  (bases 1 to 5960)
  AUTHORS   Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and
            Morton CC.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.206455.1, AK290598.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378278.7/ ENSP00000367527.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ932042.1, AJ296101.1,
            AW954867.1 and AL360083.27.
            On Nov 23, 2018 this sequence version replaced NM_001033855.2.
            Summary: This gene encodes a nuclear protein that is involved in
            V(D)J recombination and DNA repair. The encoded protein has
            single-strand-specific 5'-3' exonuclease activity; it also exhibits
            endonuclease activity on 5' and 3' overhangs and hairpins. The
            protein also functions in the regulation of the cell cycle in
            response to DNA damage. Mutations in this gene can cause
            Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn
            syndrome. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jan 2014].
            Transcript Variant: This variant (a) encodes the longest isoform
            (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5960
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p13"
     gene            1..5960
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="DNA cross-link repair 1C"
                     /db_xref="GeneID:64421"
                     /db_xref="HGNC:HGNC:17642"
                     /db_xref="MIM:605988"
     CDS             87..2165
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="isoform a is encoded by transcript variant a; DNA
                     cross-link repair 1C (PSO2 homolog, S. cerevisiae); severe
                     combined immunodeficiency, type a (Athabascan); protein
                     artemis; SNM1 homolog C; SNM1-like protein"
                     /codon_start=1
                     /product="protein artemis isoform a"
                     /protein_id="NP_001029027.1"
                     /db_xref="CCDS:CCDS31149.1"
                     /db_xref="GeneID:64421"
                     /db_xref="HGNC:HGNC:17642"
                     /db_xref="MIM:605988"
                     /translation="MSSFEGQMAEYPTISIDRFDRENLRARAYFLSHCHKDHMKGLRAP
                     TLKRRLECSLKVYLYCSPVTKELLLTSPKYRFWKKRIISIEIETPTQISLVDEASGEKE
                     EIVVTLLPAGHCPGSVMFLFQGNNGTVLYTGDFRLAQGEAARMELLHSGGRVKDIQSVY
                     LDTTFCDPRFYQIPSREECLSGVLELVRSWITRSPYHVVWLNCKAAYGYEYLFTNLSEE
                     LGVQVHVNKLDMFRNMPEILHHLTTDRNTQIHACRHPKAEEYFQWSKLPCGITSRNRIP
                     LHIISIKPSTMWFGERSRKTNVIVRTGESSYRACFSFHSSYSEIKDFLSYLCPVNAYPN
                     VIPVGTTMDKVVEILKPLCRSSQSTEPKYKPLGKLKRARTVHRDSEEEDDYLFDDPLPI
                     PLRHKVPYPETFHPEVFSMTAVSEKQPEKLRQTPGCCRAECMQSSRFTNFVDCEESNSE
                     SEEEVGIPASLQGDLGSVLHLQKADGDVPQWEVFFKRNDEITDESLENFPSSTVAGGSQ
                     SPKLFSDSDGESTHISSQNSSQSTHITEQGSQGWDSQSDTVLLSSQERNSGDITSLDKA
                     DYRPTIKENIPASLMEQNVICPKDTYSDLKSRDKDVTIVPSTGEPTTLSSETHIPEEKS
                     LLNLSTNADSQSSSDFEVPSTPEAELPKREHLQYLYEKLATGESIAVKKRKCSLLDT"
     misc_feature    1224..1226
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q8K4J0; propagated from
                     UniProtKB/Swiss-Prot (Q96SD1.2); phosphorylation site"
     misc_feature    1239..1241
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K4J0; propagated from
                     UniProtKB/Swiss-Prot (Q96SD1.2); phosphorylation site"
     misc_feature    1596..1751
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96SD1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2004..2078
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96SD1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2019..2021
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="Phosphoserine, by ATM.
                     /evidence=ECO:0000269|PubMed:15468306,
                     ECO:0000269|PubMed:15723659; propagated from
                     UniProtKB/Swiss-Prot (Q96SD1.2); phosphorylation site"
     regulatory      3682..3687
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="hexamer: AATAAA"
     polyA_site      3702
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="major polyA site"
     regulatory      5940..5945
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="hexamer: AATAAA"
     polyA_site      5960
                     /gene="DCLRE1C"
                     /gene_synonym="A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C"
                     /note="major polyA site"
ORIGIN
        1 ggcttcccgg aagtggcggc gcggtcaggg ctggccttgg cttcagctgc ggttttgggg
       61 tcccggactc tgggatcggc ggcgctatga gttctttcga ggggcagatg gccgagtatc
      121 caactatctc catagaccgc ttcgataggg agaacctgag ggcccgcgcc tacttcctgt
      181 cccactgcca caaagatcac atgaaaggat taagagcccc taccttgaaa agaaggttgg
      241 agtgcagctt gaaggtttat ctatactgtt cacctgtgac taaggagttg ttgttaacga
      301 gcccgaaata cagattttgg aagaaacgaa ttatatctat tgaaatcgag actcctaccc
      361 agatatcttt agtggatgaa gcatcaggag agaaggaaga gattgttgtg actctcttac
      421 cagctggtca ctgtccggga tcagttatgt ttttatttca gggcaataat ggaactgtcc
      481 tgtacacagg agacttcaga ttggcgcaag gagaagctgc tagaatggag cttctgcact
      541 ccgggggcag agtcaaagac atccaaagtg tatatttgga tactacgttc tgtgatccaa
      601 gattttacca aattccaagt cgggaggagt gtttaagtgg agtcttagag ctggtccgaa
      661 gctggatcac tcggagcccg taccatgttg tgtggctgaa ctgcaaagcg gcttatggct
      721 atgaatatct gttcaccaac cttagtgaag aattaggagt ccaggttcat gtgaataagc
      781 tagacatgtt taggaacatg cctgagatcc ttcatcatct cacaacagac cgcaacactc
      841 agatccatgc atgccggcat cccaaggcag aggaatattt tcagtggagc aaattaccct
      901 gtggaattac ttccagaaat agaattccac tccacataat cagcattaag ccatccacca
      961 tgtggtttgg agaaaggagc agaaaaacaa atgtaattgt gaggactgga gagagttcat
     1021 acagagcttg tttttctttt cactcctcct acagtgagat taaagatttc ttgagctacc
     1081 tctgtcctgt gaacgcatat ccaaatgtca ttccagttgg cacaactatg gataaagttg
     1141 tcgaaatctt aaagccttta tgccggtctt cccaaagtac ggagccaaag tataaaccac
     1201 tgggaaaact gaagagagct agaacagttc accgagactc agaggaggaa gatgactatc
     1261 tctttgatga tcctctgcca atacctttaa ggcacaaagt tccatacccg gaaacttttc
     1321 accctgaggt attttcaatg actgcagtat cagaaaagca gcctgaaaaa ctgagacaaa
     1381 ccccaggatg ctgcagagca gagtgtatgc agagctctcg tttcacaaac tttgtagatt
     1441 gtgaagaatc caacagtgaa agtgaagaag aagtaggaat cccagcttca ctgcaaggag
     1501 atctgggctc tgtacttcac ctgcaaaagg ctgatgggga tgtaccccag tgggaagtat
     1561 tctttaaaag aaatgatgaa atcacagatg agagtttgga aaacttccct tcctccacag
     1621 tggcaggggg atctcagtca ccaaagcttt tcagtgactc tgatggagaa tcaactcaca
     1681 tctcctccca gaattcttcc cagtcaacac acataacaga acaaggaagt caaggctggg
     1741 acagccaatc tgatactgtt ttgttatctt cccaagagag aaacagtggg gatattactt
     1801 ccttggacaa agctgactac agaccaacaa tcaaagagaa tattcctgcc tctctcatgg
     1861 aacaaaatgt aatttgccca aaggatactt actctgattt gaaaagcaga gataaagatg
     1921 tgacaatagt tcctagtact ggagaaccaa ctactctaag cagtgagaca catatacccg
     1981 aggaaaaaag tttgctaaat cttagcacaa atgcagattc ccagagctct tctgattttg
     2041 aagttccctc aactccagaa gctgagttac ctaaacgaga gcatttacaa tatttatatg
     2101 agaagctggc aactggtgag agtatagcag tcaaaaaaag aaaatgctca ctcttagata
     2161 cctaagaatt caaagcgttt caacctagag caaccactaa aaaacctgca cagagatgac
     2221 agtcaatatt acaatagaga aaatacagta cttaaaaatg ttcaaataac ctggttgggt
     2281 gtggtggctc acacttgtaa tcccagcact ttgaggtggg caatggcttg agcccaggag
     2341 ttcgacacca gcctggccaa cacagtgaaa tgtgtctcta cttacaaaaa aaaaaaaaaa
     2401 aaaaaaagcc aggcatggtg gtgggctact ctggaggccc ttgaggatca cttgagccca
     2461 ggagattgag gctgcagtga gccatgactg tgccactgca cctctagtct gggtgacaga
     2521 gcaagaccct gtttaaaaaa gaaaaaggcc aggcacggtg gctcatgcct gtaatcccag
     2581 ctacgcagga ggccaaggca ggagaatcac ttgaacctgg gaggtggtgg ttgcagtgag
     2641 ctgagattgt gtcattgcac tccagcctgg gcaacaagag caaaactctg tctcaaaaaa
     2701 aaaaaaaaaa aaaaagaaaa aaaaatggta gaactaaacc catacgtatc aatgattaca
     2761 ttaaatgtaa atggtctaag tgcatcaatg acaagagaca cggaaaaaac caacataacc
     2821 cagtgatctg ctgtctataa agaaagtcaa ttcaagtgat tgataggtta aaaggatgga
     2881 aaaaccatgt aaacaattaa aaatggagtg gttatatgga cagtttccta atgataaaag
     2941 gtctagttca ccaagaagac aaaataatcc taaacgtata tgcacctaac agctccaaaa
     3001 atttatgaag ctagaacagc tgaaaagaga caaactaatg cacaattaca gctagggatt
     3061 aatttaacat ccctccttag taacagaact agtatataca cattaatcag taagaatata
     3121 gaactgaaaa tcataagccg actggattaa attgacattt atagaacaca ccaccccaaa
     3181 ctagcagaat gtatctcctg aagtacacat ggaacattca gcatgatcat atctttgctc
     3241 ataaacacac ctgatttaaa ttgacaaact tggatctagt atgataaact gatggctata
     3301 gacaaaatca gcaccttatt tatccccaaa gatgttaagt cacttaacct tgatgtgaat
     3361 acggtggcca aattagaagc ggacaattag aatataaaag aaaatgctca agaattaaat
     3421 ggtggccagg cacagtaact cctgcctgca atcccagtac tttgggaggc tcgcttgagc
     3481 tcagggtttt gagtccagcc tgggcaacac acagggagac cctgtctcca caaaatgtta
     3541 gccagacatg gtggtgtgca cctgtagtcc tcgctacttg gaaggcttag gtggcaggat
     3601 ggattgagcc caggaggttg aaactgcagt gagctgattg tgcccagcct gggcaacaaa
     3661 gcaagacccc atctcaagaa aaataaatta aaaaaaacta aagtatatgt gttattctgt
     3721 gagtcattca acattcttga agtccatcaa tgtgttaggc ttttgtgtta tgtatgagga
     3781 tttttaacaa gttttaacag atattcagga acacttagtt attgtgacat ttcatagatt
     3841 atggaagcaa aagcagagac accacttaaa acaatttgca gatcagttaa actaacactt
     3901 gatatgcatt atcatgatgc tgcatggcaa tccgaccaaa aagtattgga tccaccagac
     3961 taaccagggt aacaagactc agagttagta tacacataac tatacacatt tgtatatatt
     4021 cactgttaac taaaacttag ttttaacagt gtaccttatg atcgaaagtg gttgttcaaa
     4081 aaatgcctgt aaacattcct ctgaatatat tcctgttatt ttataatcac attaatatta
     4141 catactgtta cgtttgtttt atatgtgagt ctggcattat aaatgctggc tgaatgaatt
     4201 gggctaagac aactacaaca gatgtgatca agaaaccgat agtgattacc agaaattata
     4261 tttggtgctt actctgatga tgctcttaag ttttttacag actatatgaa ctcctttaat
     4321 tttcacaacc accctttgag gtagatacat ttctaatccc catgtacaaa tgagacaaag
     4381 gcacagaggt tagttcacat agctatgagg cacaggcaga attcaaacac aggcagtttg
     4441 gcttcagaga ccatgatctt aactgctatg ctctgatgtc tctccaaaaa agtataaaca
     4501 tgagcagggt taattgtagc agctacttgg tttttacgtc aagaatcata aaccacaaga
     4561 ggaaacatga agtttttgtt ttttactttt caagatggag tctcgctctg tcactcaggc
     4621 tggaatgcag tggccctatc tcagctcact gcaacctcag cctccagggt tcaagtgatt
     4681 ttcctgcctc agcctcccaa gtagctggga ttacaggtgt gtgccacacc tggctaattt
     4741 ttgtattttt agtagagaca gggtttcacc atattggtca gactggtctt gaactcctga
     4801 cctctggtga tccactcgcc tcggcctccc aaagtgctgg gattacaggc gtcagctacc
     4861 gtgtccagcc gaaacatgaa gtttcaaaat gccaagatgt atcacagaag acactcagca
     4921 gtcagccaca tttatcttgg agaagagttc caggacttaa atgtttgaat agtataaact
     4981 agttttttaa aaagtctgcc tgaagccgaa gattaaatac tttaaaaagt tcactgggtg
     5041 atcttggcat gttgacatta tcttaacagt ctaagcttgt taccttacac caacctgaca
     5101 ggttcattag aagcacatga atacatataa aaggcataaa agactgggtc aatgaatatg
     5161 agctctgaat tctaaaattc ctttgcattt ctaggcagta cttaccatag tatgtttacg
     5221 tacctggtga gtgacaatgc tcaaaaattt ctgaagtatt catccacatt atgctagcga
     5281 aatgtcaaat tgtcctttaa tattcaaatg catgaaccat cactccttgg ccttttggcc
     5341 aagatcaagt gtagtatcaa atgcatgaac catgaaagct atcttaaaag gaaagtaaca
     5401 tttaaaggaa ttgaatataa accttcggtt aatcttgcta gcacgtagtc aatacatcag
     5461 tatttttctg ccccttttat agtcttactg gaaatgactg taaaacagaa acaaagctaa
     5521 gccatggtaa atagaacatt aaatgcccaa cctaatttat tttgctaaga gaaactgatg
     5581 aactaaaaga gaaacaacta ttgtctacat tttagatatg ggggaaaaaa ccctgagatt
     5641 actaattatg tatcaccatc ctcttaatgt agatcctgaa aatgatggta tcaatataat
     5701 acatacagtg gattcacctt ttaaactgga tctattacct ttgatatttg tcttacactg
     5761 aaaaattctg acatcttcag gaaaccaata tgatggataa gctaaatgtt gacttaaaat
     5821 agttaaaccc cttaataaca tcctttagtt tctattattt cactgcttaa gttcagcatc
     5881 tgaataacaa aggtaacata agtagtactt aagatcccaa aggcccatta cattctatca
     5941 ataaagacaa aacaaaacta
//
LOCUS       NM_001033910            3976 bp    mRNA    linear   PRI 13-JUL-2023
DEFINITION  Homo sapiens TNF receptor associated factor 5 (TRAF5), transcript
            variant 3, mRNA.
ACCESSION   NM_001033910
VERSION     NM_001033910.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3976)
  AUTHORS   Wu G, Wu F, Zhou YQ, Lu W, Hu FL and Fan X.
  TITLE     Silencing of TRAF5 enhances necroptosis in hepatocellular carcinoma
            by inhibiting LTBR-mediated NF-kappaB signaling
  JOURNAL   PeerJ 11, e15551 (2023)
   PUBMED   37366426
  REMARK    GeneRIF: Silencing of TRAF5 enhances necroptosis in hepatocellular
            carcinoma by inhibiting LTBR-mediated NF-kappaB signaling.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3976)
  AUTHORS   Zhang F, Luo BH, Wu QH, Li QL and Yang KD.
  TITLE     LncRNA HCG18 upregulates TRAF4/TRAF5 to facilitate proliferation,
            migration and EMT of epithelial ovarian cancer by targeting
            miR-29a/b
  JOURNAL   Mol Med 28 (1), 2 (2022)
   PUBMED   34983361
  REMARK    GeneRIF: LncRNA HCG18 upregulates TRAF4/TRAF5 to facilitate
            proliferation, migration and EMT of epithelial ovarian cancer by
            targeting miR-29a/b. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3976)
  AUTHORS   Xu S, Kong J, Huang L, Xie H, Wang F, Zhou T, Zhang X, Yu L, Xu S
            and Pan F.
  TITLE     Single nucleotide polymorphisms of TRAF2 and TRAF5 gene in
            ankylosing spondylitis: a case-control study
  JOURNAL   Clin Exp Med 21 (4), 645-653 (2021)
   PUBMED   33997937
  REMARK    GeneRIF: Single nucleotide polymorphisms of TRAF2 and TRAF5 gene in
            ankylosing spondylitis: a case-control study.
REFERENCE   4  (bases 1 to 3976)
  AUTHORS   Xu S, Gao X, Ma Y, Deng J, Xu S and Pan F.
  TITLE     Association of methylation level and transcript level in TRAF5 gene
            with ankylosing spondylitis: a case-control study
  JOURNAL   Genes Immun 22 (2), 101-107 (2021)
   PUBMED   34021268
  REMARK    GeneRIF: Association of methylation level and transcript level in
            TRAF5 gene with ankylosing spondylitis: a case-control study.
REFERENCE   5  (bases 1 to 3976)
  AUTHORS   Lan H, Liu Y, Liu J, Wang X, Guan Z, Du J and Jin K.
  TITLE     Tumor-Associated Macrophages Promote Oxaliplatin Resistance via
            METTL3-Mediated m6A of TRAF5 and Necroptosis in Colorectal Cancer
  JOURNAL   Mol Pharm 18 (3), 1026-1037 (2021)
   PUBMED   33555197
  REMARK    GeneRIF: Tumor-Associated Macrophages Promote Oxaliplatin Resistance
            via METTL3-Mediated m(6)A of TRAF5 and Necroptosis in Colorectal
            Cancer.
REFERENCE   6  (bases 1 to 3976)
  AUTHORS   Hsu H, Solovyev I, Colombero A, Elliott R, Kelley M and Boyle WJ.
  TITLE     ATAR, a novel tumor necrosis factor receptor family member, signals
            through TRAF2 and TRAF5
  JOURNAL   J Biol Chem 272 (21), 13471-13474 (1997)
   PUBMED   9153189
REFERENCE   7  (bases 1 to 3976)
  AUTHORS   Tang XX, Pleasure DE and Ikegaki N.
  TITLE     cDNA cloning, chromosomal localization, and expression pattern of
            EPLG8, a new member of the EPLG gene family encoding ligands of
            EPH-related protein-tyrosine kinase receptors
  JOURNAL   Genomics 41 (1), 17-24 (1997)
   PUBMED   9126477
REFERENCE   8  (bases 1 to 3976)
  AUTHORS   Aizawa S, Nakano H, Ishida T, Horie R, Nagai M, Ito K, Yagita H,
            Okumura K, Inoue J and Watanabe T.
  TITLE     Tumor necrosis factor receptor-associated factor (TRAF) 5 and TRAF2
            are involved in CD30-mediated NFkappaB activation
  JOURNAL   J Biol Chem 272 (4), 2042-2045 (1997)
   PUBMED   8999898
REFERENCE   9  (bases 1 to 3976)
  AUTHORS   Ishida TK, Tojo T, Aoki T, Kobayashi N, Ohishi T, Watanabe T,
            Yamamoto T and Inoue J.
  TITLE     TRAF5, a novel tumor necrosis factor receptor-associated factor
            family protein, mediates CD40 signaling
  JOURNAL   Proc Natl Acad Sci U S A 93 (18), 9437-9442 (1996)
   PUBMED   8790348
REFERENCE   10  (bases 1 to 3976)
  AUTHORS   Nakano H, Oshima H, Chung W, Williams-Abbott L, Ware CF, Yagita H
            and Okumura K.
  TITLE     TRAF5, an activator of NF-kappaB and putative signal transducer for
            the lymphotoxin-beta receptor
  JOURNAL   J Biol Chem 271 (25), 14661-14664 (1996)
   PUBMED   8663299
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB000509.1, SRR14038191.1806335.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000261464.10/ ENSP00000261464.5
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB290838.1, AB000509.1,
            U69108.1 and BU676629.1.
            On Nov 22, 2018 this sequence version replaced NM_001033910.2.
            Summary: The scaffold protein encoded by this gene is a member of
            the tumor necrosis factor receptor-associated factor (TRAF) protein
            family and contains a meprin and TRAF homology (MATH) domain, a
            RING-type zinc finger, and two TRAF-type zinc fingers. TRAF
            proteins are associated with, and mediate signal transduction from
            members of the TNF receptor superfamily. This protein is one of the
            components of a multiple protein complex which binds to tumor
            necrosis factor (TNF) receptor cytoplasmic domains and mediates
            TNF-induced activation. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jan 2016].
            Transcript Variant: This variant (3) uses an alternate in-frame
            splice junction compared to variant 4. The resulting isoform (b)
            has the same N- and C-termini but is shorter compared to isoform a.
            Variants 1, 2, and 3 all encode the same isoform (b).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3976
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.3"
     gene            1..3976
                     /gene="TRAF5"
                     /gene_synonym="MGC:39780; RNF84"
                     /note="TNF receptor associated factor 5"
                     /db_xref="GeneID:7188"
                     /db_xref="HGNC:HGNC:12035"
                     /db_xref="MIM:602356"
     CDS             59..1732
                     /gene="TRAF5"
                     /gene_synonym="MGC:39780; RNF84"
                     /note="isoform b is encoded by transcript variant 3; RING
                     finger protein 84"
                     /codon_start=1
                     /product="TNF receptor-associated factor 5 isoform b"
                     /protein_id="NP_001029082.1"
                     /db_xref="CCDS:CCDS1497.1"
                     /db_xref="GeneID:7188"
                     /db_xref="HGNC:HGNC:12035"
                     /db_xref="MIM:602356"
                     /translation="MAYSEEHKGMPCGFIRQNSGNSISLDFEPSIEYQFVERLEERYKC
                     AFCHSVLHNPHQTGCGHRFCQHCILSLRELNTVPICPVDKEVIKSQEVFKDNCCKREVL
                     NLYVYCSNAPGCNAKVILGRYQDHLQQCLFQPVQCSNEKCREPVLRKDLKEHLSASCQF
                     RKEKCLYCKKDVVVINLQNHEENLCPEYPVFCPNNCAKIILKTEVDEHLAVCPEAEQDC
                     PFKHYGCAVTDKRRNLQQHEHSALREHMRLVLEKNVQLEEQISDLHKSLEQKESKIQQL
                     AETIKKLEKEFKQFAQLFGKNGSFLPNIQVFASHIDKSAWLEAQVHQLLQMVNQQQNKF
                     DLRPLMEAVDTVKQKITLLENNDQRLAVLEEETNKHDTHINIHKAQLSKNEERFKLLEG
                     TCYNGKLIWKVTDYKMKKREAVDGHTVSIFSQSFYTSRCGYRLCARAYLNGDGSGRGSH
                     LSLYFVVMRGEFDSLLQWPFRQRVTLMLLDQSGKKNIMETFKPDPNSSSFKRPDGEMNI
                     ASGCPRFVAHSVLENAKNAYIKDDTLFLKVAVDLTDLEDL"
     misc_feature    1091..1729
                     /gene="TRAF5"
                     /gene_synonym="MGC:39780; RNF84"
                     /note="propagated from UniProtKB/Swiss-Prot (O00463.2);
                     Region: Interaction with EIF2AK2/PKR.
                     /evidence=ECO:0000269|PubMed:15121867"
     regulatory      3950..3955
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRAF5"
                     /gene_synonym="MGC:39780; RNF84"
                     /note="hexamer: AGTAAA"
     polyA_site      3976
                     /gene="TRAF5"
                     /gene_synonym="MGC:39780; RNF84"
                     /note="major polyA site"
ORIGIN
        1 aggagcagca gccgcgcctg cagaccggcc tcgcggagcc cgcgcgccga gccccacaat
       61 ggcttattca gaagagcata aaggtatgcc ctgtggtttc atccgccaga attccggcaa
      121 ctccatttcc ttggactttg agcccagtat agagtaccag tttgtggagc ggttggaaga
      181 gcgctacaaa tgtgccttct gccactcggt gcttcacaac ccccaccaga caggatgtgg
      241 gcaccgcttc tgccagcact gcatcctgtc cctgagagaa ttaaacacag tgccaatctg
      301 ccctgtagat aaagaggtca tcaaatctca ggaggttttt aaagacaatt gttgcaaaag
      361 agaagtcctc aacttatatg tatattgcag caatgctcct ggatgtaatg ccaaggttat
      421 tctgggccgg taccaggatc accttcagca gtgcttattt caacctgtgc agtgttctaa
      481 tgagaagtgc cgggagccag tcctacggaa agacctgaaa gagcatttga gtgcatcctg
      541 tcagtttcga aaggaaaaat gcctttattg caaaaaggat gtggtagtca tcaatctaca
      601 gaatcatgag gaaaacttgt gtcctgaata cccagtattt tgtcccaaca attgtgcgaa
      661 gattattcta aaaactgagg tagatgaaca cctggctgta tgtcctgaag ctgagcaaga
      721 ctgtcctttt aagcactatg gctgtgctgt aacggataaa cggaggaacc tgcagcaaca
      781 tgagcattca gccttacggg agcacatgcg tttggtttta gaaaagaatg tccaattaga
      841 agaacagatt tctgacttac acaagagcct agaacagaaa gaaagtaaaa tccagcagct
      901 agcagaaact ataaagaaac ttgaaaagga gttcaagcag tttgcacagt tgtttggcaa
      961 aaatggaagc ttcctcccaa acatccaggt ttttgccagt cacattgaca agtcagcttg
     1021 gctagaagct caagtgcatc aattattaca aatggttaac cagcaacaaa ataaatttga
     1081 cctgagacct ttgatggaag cagttgatac agtgaaacag aaaattaccc tgctagaaaa
     1141 caatgatcaa agattagccg ttttagaaga ggaaactaac aaacatgata cccacattaa
     1201 tattcataaa gcacagctga gtaaaaatga agagcgattt aaactgctgg agggtacttg
     1261 ctataatgga aagctcattt ggaaggtgac agattacaag atgaagaaga gagaggcggt
     1321 ggatgggcac acagtgtcca tcttcagcca gtccttctac accagccgct gtggctaccg
     1381 gctctgtgct agagcatacc tgaatgggga tgggtcaggg agggggtcac acctgtccct
     1441 atactttgtg gtcatgcgag gagagtttga ctcactgttg cagtggccat tcaggcagag
     1501 ggtgaccctg atgcttctgg accagagtgg caaaaagaac attatggaga ccttcaaacc
     1561 tgaccccaat agcagcagct ttaaaagacc tgatggggag atgaacattg catctggctg
     1621 tccccgcttt gtggctcatt ctgttttgga gaatgccaag aacgcctaca ttaaagatga
     1681 cactctgttc ttgaaagtgg ccgtggactt aactgacctg gaggatctct agtcactgtt
     1741 atggggtgat aagaggactt cttggggcca gaactgtgga ggagagcaca tttgattatc
     1801 atattgacct ggatttagac tcaaagcaca tttgtatttg cctttttcct taacgtttga
     1861 agtcagttta aaacttctga agtgctgtct ttttacattt tactctgtcc cagtttgaaa
     1921 cttaaaactc ttagaatatt ctcttattat ttatattttt atatttcttg aaagatggta
     1981 agtttcttga agtttttggg gcgtttctct tttactggtg cttagcgcag tgtctcgggc
     2041 actctaaata ttgagtgtta tggaggacac agaggtagca gaatcccagt tgaaaatgtt
     2101 ttgatatttt attgtttggc ctattgattc tagacctggc cttaagtctg caaaagccat
     2161 ctttataagg taggctgttc cagttaagta gtgggtgatg tagttacaaa gataatatgc
     2221 tcagtttgga cctttttttc agttaaatgc taaatatatg aaaattacta tacctctaag
     2281 tattttcatg aaattcacca gcagtttgca agcacagttt tgcaaggctg cataagaact
     2341 ggtgaatggg gtaagcattt tcattcttcc tgctgaagta aagcagaaag tactgcatag
     2401 tatatgagat atagccagct agctaaagtt cagattttgt taggttcaac cctatgaaaa
     2461 aaactatttt cataggtcaa aaatggtaaa aaattagcag tttcataaga ttcaaccaaa
     2521 taaatatata tatacacaca cacatacata tacacctata tatgtgtgta tacaaacagt
     2581 tcgaatgtat tttggtgaca gtaataaatc aatgtgagga tggatagaat ttagtatatg
     2641 atagagaaaa tgtcataaat ggataaaagg aatttacaac ttgaggagaa aacctttaca
     2701 atttcctatg ggtgtcagaa gtactctcag cgaaaactga tggctaaaac agtatctact
     2761 attctctgat aacttttttt ttgagacaga gtttcattgt cacccaggct ggagtacagt
     2821 ggcatgatct cagctcactg caaactctgc ctcccgaatt caagtgattc tcctgcctca
     2881 gcctcctgag tagctgggat tacaggcgcc cgtcaccaca cccaggtaat ttttgtattt
     2941 ttagtagaga cggagttttg ccatgttggc caagctgatc tcaaactcct gacctcaagt
     3001 gatctgcccg cctcggcctc ccaaagtgct gagattacag gcatgaccca ccgcgtcaag
     3061 cctctgacaa ctattgaatt tgtaagctgc tatgcaaatg ggcatttata taaacttgtg
     3121 atgtttcttg tcagaattct gagtactctg tgaagaacag aaatgatcat attcttatgc
     3181 atctatctgt atgggtctga aggtgtatat acaaactgag atgagtcctt atgactcttg
     3241 ataagcctga gtttaacaac aacaaaaatg ccaagttgtc ctgagccctt ctgcgttgtt
     3301 atgccacttc cctactgctc atatgcacgc tggctcccct gggcacgcaa ggatgagtat
     3361 gggccatggg cccctgtaga gctgcttacc tggtgatgac catgcacctt acaatttctg
     3421 aacagttaac cctatagaag catgctttat atgagtgtct tctgggaaga ggaaccttct
     3481 taatctcttc tgtgggattt tcaaaatgct aaagactcac actgcagcaa tcatcccaga
     3541 tgattaaatt caaagaaata ggttcacaac aggaatatac tgaagaacta gagtgtcact
     3601 gctggtgaac tgtggcacgg ttgctcaaca catcacctcg gacaaattca ggaagcattt
     3661 ctttagccca caagtccaga cccaggtgct ctgtatgttt gtttttaata ttcatcatat
     3721 ccaagttcac tctgtcttcc tgagcagtgg aagatcatat tgctgtaact tcttttaagt
     3781 agttgatgtg gaaaacattt taaagtgaat ttgtcaaaat gctggttttg tgttttatcc
     3841 aacttttgtg catatatata aagtatgtca tggcatggtt tgcttaggag ttcagagttc
     3901 cttcatcatc gaaatagtga ttaagtgatc ccagaacaag gaatactaga gtaaaaagca
     3961 cctctttttc acaaaa
//
LOCUS       NM_001033930            2848 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens ubiquitin A-52 residue ribosomal protein fusion product
            1 (UBA52), transcript variant 1, mRNA.
ACCESSION   NM_001033930
VERSION     NM_001033930.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2848)
  AUTHORS   Lee SO, Kelliher JL, Song W, Tengler K, Sarkar A, Dray E and Leung
            JWC.
  TITLE     UBA80 and UBA52 fine-tune RNF168-dependent histone ubiquitination
            and DNA repair
  JOURNAL   J Biol Chem 299 (8), 105043 (2023)
   PUBMED   37451480
  REMARK    GeneRIF: UBA80 and UBA52 fine-tune RNF168-dependent histone
            ubiquitination and DNA repair.
REFERENCE   2  (bases 1 to 2848)
  AUTHORS   Eastham MJ, Pelava A, Wells GR, Watkins NJ and Schneider C.
  TITLE     RPS27a and RPL40, Which Are Produced as Ubiquitin Fusion Proteins,
            Are Not Essential for p53 Signalling
  JOURNAL   Biomolecules 13 (6), 898 (2023)
   PUBMED   37371478
  REMARK    GeneRIF: RPS27a and RPL40, Which Are Produced as Ubiquitin Fusion
            Proteins, Are Not Essential for p53 Signalling. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 2848)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2848)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2848)
  AUTHORS   Zhou Q, Hou Z, Zuo S, Zhou X, Feng Y, Sun Y and Yuan X.
  TITLE     LUCAT1 promotes colorectal cancer tumorigenesis by targeting the
            ribosomal protein L40-MDM2-p53 pathway through binding with UBA52
  JOURNAL   Cancer Sci 110 (4), 1194-1207 (2019)
   PUBMED   30690837
  REMARK    GeneRIF: our findings indicate that suppression of LUCAT1 induces
            CRC cell cycle arrest and apoptosis by binding UBA52 and activating
            the RPL40-MDM2-p53 pathway. These results implicate LUCAT1 as a
            potential prognostic biomarker and therapeutic target for CRC.
REFERENCE   6  (bases 1 to 2848)
  AUTHORS   Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N,
            Yokoyama-Kobayashi M and Aoki T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   7  (bases 1 to 2848)
  AUTHORS   Baker RT and Board PG.
  TITLE     The human ubiquitin/52-residue ribosomal protein fusion gene
            subfamily (UbA52) is composed primarily of processed pseudogenes
  JOURNAL   Genomics 14 (2), 520-522 (1992)
   PUBMED   1330885
REFERENCE   8  (bases 1 to 2848)
  AUTHORS   Baker RT and Board PG.
  TITLE     The human ubiquitin-52 amino acid fusion protein gene shares several
            structural features with mammalian ribosomal protein genes
  JOURNAL   Nucleic Acids Res 19 (5), 1035-1040 (1991)
   PUBMED   1850507
REFERENCE   9  (bases 1 to 2848)
  AUTHORS   Monia BP, Ecker DJ, Jonnalagadda S, Marsh J, Gotlib L, Butt TR and
            Crooke ST.
  TITLE     Gene synthesis, expression, and processing of human ubiquitin
            carboxyl extension proteins
  JOURNAL   J Biol Chem 264 (7), 4093-4103 (1989)
   PUBMED   2537304
REFERENCE   10  (bases 1 to 2848)
  AUTHORS   Salvesen,G., Lloyd,C. and Farley,D.
  TITLE     cDNA encoding a human homolog of yeast ubiquitin 1
  JOURNAL   Nucleic Acids Res 15 (13), 5485 (1987)
   PUBMED   3037496
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.230820.1,
            SRR1660807.99101.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000442744.7/ ENSP00000388107.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BQ428688.1, CB124676.1, BQ428515.1, AF545864.1,
            BU677484.1 and AC005253.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001033930.2.
            Summary: Ubiquitin is a highly conserved nuclear and cytoplasmic
            protein that has a major role in targeting cellular proteins for
            degradation by the 26S proteosome. It is also involved in the
            maintenance of chromatin structure, the regulation of gene
            expression, and the stress response. Ubiquitin is synthesized as a
            precursor protein consisting of either polyubiquitin chains or a
            single ubiquitin moiety fused to an unrelated protein. This gene
            encodes a fusion protein consisting of ubiquitin at the N terminus
            and ribosomal protein L40 at the C terminus, a C-terminal extension
            protein (CEP). Multiple processed pseudogenes derived from this
            gene are present in the genome. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2848
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..2848
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
                     /note="ubiquitin A-52 residue ribosomal protein fusion
                     product 1"
                     /db_xref="GeneID:7311"
                     /db_xref="HGNC:HGNC:12458"
                     /db_xref="MIM:191321"
     CDS             62..448
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; ubiquitin-52 amino acid fusion protein; ubiquitin
                     carboxyl extension protein 52; ubiquitin-CEP52;
                     ubiquitin-60S ribosomal protein L40; ubiquitin-ribosomal
                     protein eL40 fusion protein"
                     /codon_start=1
                     /product="ubiquitin-ribosomal protein eL40 fusion protein
                     isoform 1 precursor"
                     /protein_id="NP_001029102.1"
                     /db_xref="CCDS:CCDS12382.1"
                     /db_xref="GeneID:7311"
                     /db_xref="HGNC:HGNC:12458"
                     /db_xref="MIM:191321"
                     /translation="MQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIF
                     AGKQLEDGRTLSDYNIQKESTLHLVLRLRGGIIEPSLRQLAQKYNCDKMICRKCYARLH
                     PRAVNCRKKKCGHTNNLRPKKKVK"
     mat_peptide     62..289
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
                     /product="Ubiquitin. /id=PRO_0000396433"
                     /note="propagated from UniProtKB/Swiss-Prot (P62987.2)"
     misc_feature    221..223
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
                     /note="Interacts with activating enzyme; propagated from
                     UniProtKB/Swiss-Prot (P62987.2); other site"
     misc_feature    254..256
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
                     /note="Phosphoserine, by PINK1.
                     /evidence=ECO:0000269|PubMed:24660806,
                     ECO:0000269|PubMed:24751536, ECO:0000269|PubMed:24784582,
                     ECO:0000269|PubMed:25474007, ECO:0000269|PubMed:25527291;
                     propagated from UniProtKB/Swiss-Prot (P62987.2);
                     phosphorylation site"
     misc_feature    263..265
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
                     /note="Essential for function; propagated from
                     UniProtKB/Swiss-Prot (P62987.2); other site"
     misc_feature    275..277
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
                     /note="Interacts with activating enzyme; propagated from
                     UniProtKB/Swiss-Prot (P62987.2); other site"
     mat_peptide     290..445
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
                     /product="Large ribosomal subunit protein eL40.
                     /id=PRO_0000396434"
                     /note="propagated from UniProtKB/Swiss-Prot (P62987.2)"
     misc_feature    353..355
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
                     /note="N6,N6,N6-trimethyllysine.
                     /evidence=ECO:0000250|UniProtKB:P62986; propagated from
                     UniProtKB/Swiss-Prot (P62987.2); methylation site"
     regulatory      506..511
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
                     /note="hexamer: AATAAA"
     polyA_site      539
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
                     /note="major polyA site"
     regulatory      720..725
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
                     /note="hexamer: AGTAAA"
     polyA_site      741
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
     regulatory      2740..2745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
                     /note="hexamer: AATAAA"
     polyA_site      2758
                     /gene="UBA52"
                     /gene_synonym="CEP52; HUBCEP52; L40; RPL40"
ORIGIN
        1 cttctttttc ttcagcgagg cggccgagct ggttggtggc ggcggtcgtg cggacgcaaa
       61 catgcagatc tttgtgaaga ccctcactgg caaaaccatc acccttgagg tcgagcccag
      121 tgacaccatt gagaatgtca aagccaaaat tcaagacaag gagggtatcc cacctgacca
      181 gcagcgtctg atatttgccg gcaaacagct ggaggatggc cgcactctct cagactacaa
      241 catccagaaa gagtccaccc tgcacctggt gttgcgcctg cgaggtggca ttattgagcc
      301 ttctctccgc cagcttgccc agaaatacaa ctgcgacaag atgatctgcc gcaagtgcta
      361 tgctcgcctt caccctcgtg ctgtcaactg ccgcaagaag aagtgtggtc acaccaacaa
      421 cctgcgtccc aagaagaagg tcaaataagg tggttctttc cttgaagggc agcctcctgc
      481 ccaggccccg tggccctgga gcctcaataa agtgtccctt tcattgactg gagcagcaat
      541 tggtgtcctc atggctgatc tgtccaggga ggtggctgaa gagtgggcat ctcccttagg
      601 gactctactc agcactccat tctgtgccac ctgtggggtc ttctgtccta gattctgtca
      661 catcggcatt ggtccctgcc ctatgcccct gactctggat ttgtcatctg taaaactgga
      721 gtaaaaacct cagtcgtgta attggtggga ctgaggatca gttttgtcat tgctgggatc
      781 ctgtcaggca ctttgaggtg tccctcaggc cttggccctg aagtgtctag gtgtgtggag
      841 atgggtagaa aattaggtac acccaatggt gtagaacgtt gattctcaaa tttttttatt
      901 ttatacaaat ggggtctcac tatgttgtcc aggctggtct tgaactcctg ggctcaagcc
      961 atccgcccat ctcagcccct caaagtgttg ggattacaag caagaactgc catgcctgac
     1021 ccagttctca gttttttgtt tgtttgtttg tttgtttgtt ttgagacgga gtcttgctct
     1081 gtcgcccagg ctggagtgca gtggcgcagt ctcggcttac tacaacctct gcctccgggg
     1141 ttcacatcct tctcctgcct cagcctcccg agtagctggg actacaggtg cccgccacaa
     1201 ctcctggcta attttttgta tttttagtag agacggggtt tcactgggtt agccaggttg
     1261 gtctcgatct cctgaccttg tgatccattc gccttggcct cccagaatgc tggtattaca
     1321 ggcgtgagcc agcacgcctg gcccagttac tcagttttga atctgaggcc gtgacatcac
     1381 tcatggtctg cagtcagtgc tctgcccctg agctgtaccc tctcctatga taatcactct
     1441 taagaagggc aacccttggt gttttcccct taaggtcacc caggctggaa tgcagtggtg
     1501 tggtcatggc tccctgtacc ctggaactca ggcttgggtg atcctctctc ctttgcctcc
     1561 gaagtagcca ggactacagg tgtgcaccca ccaccacact cagataattg ctttggtgtt
     1621 tttaaagctt gtaatgatca gtaggctgag gtgggcaaat cataaggtca agagtttttt
     1681 agatggggtg agcacagacc aattcctgtt ttatttactg atttaaaatt ttgagacagt
     1741 ctcactgtca cccaggttgg ggtgcagtgg taggatcata gcttgctgca gccttgatct
     1801 cccaggatct tgcctcagcc tcccgagtag ctgggactgc atgcttgtgc caccacactc
     1861 ggttaatatt ttgtagagat ggggtcttgc tatgttgccc aggctggctt caaactcctg
     1921 aacttaaaag cctcctgttt agttttggtt ttttatcact tttttttttt ttttttgaga
     1981 tggagccttg ctcccatcgt gcaggctgga gtgcggtggc gcagtctcgg ctcactgcag
     2041 cttctgcctc tcgggttcaa gcgattctcc tttctcagcc tcttgagtag ctggaattac
     2101 cagtgtgcgc caccaccacc acgcctggct agtttttctg tttttagtag agacagggtt
     2161 ttgctatgtt ggccaggctg gtcttgaact actgacctct tgtgatctac ctgtcttggc
     2221 cttccaaagt gctaggatta caagcgtaag ccacagcgcc tggccttgct acattttttt
     2281 tttttttttt ttttttacag acatggtctc gctatgttgc ccagaatggt tttgcactgg
     2341 gtccaagcag ttctgccgca gcctcccaaa gtgctgggat tacaggggtg aggcaccttg
     2401 ctggcccctg ttttgattag ggtgcagtgc tggtgaagcc ggtgcacgag gccagtgatg
     2461 catcctaatg aggggtggag ttggcgggac ttcctgggcc agtttgggga ctttcacaaa
     2521 agacccccat gactcagggt tttgagttct taactgatcg aatgaaggat tcaaaattaa
     2581 ccactccaag gggggattga aggaagaacc actcttaatg gacaaaaaga aagaaagggg
     2641 agggagtaac agggatatga gctctagccg cccaagctag caatggcaac ccttctgggt
     2701 ccccttccag catgtggaag ctttcctttc gcttcattca ataaacagct gctgctcact
     2761 ctcctggtcc gtggactctt tttgaactgt taacactccc cgcaaaggtc cgcagcttca
     2821 ttcttcaaag ttagcgagac caggaacc
//
LOCUS       NM_001034               3258 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens ribonucleotide reductase regulatory subunit M2 (RRM2),
            transcript variant 2, mRNA.
ACCESSION   NM_001034
VERSION     NM_001034.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3258)
  AUTHORS   Chen C, Xue N, Liu K, He Q, Wang C, Guo Y, Tian J, Liu X, Pan Y and
            Chen G.
  TITLE     USP12 promotes nonsmall cell lung cancer progression through
            deubiquitinating and stabilizing RRM2
  JOURNAL   Mol Carcinog 62 (10), 1518-1530 (2023)
   PUBMED   37341611
  REMARK    GeneRIF: USP12 promotes nonsmall cell lung cancer progression
            through deubiquitinating and stabilizing RRM2.
REFERENCE   2  (bases 1 to 3258)
  AUTHORS   Ma X, Fu T, Ke ZY, Du SL, Wang XC, Zhou N, Zhong MY, Liu YJ and
            Liang AL.
  TITLE     MiR-17- 5p/RRM2 regulated gemcitabine resistance in lung cancer A549
            cells
  JOURNAL   Cell Cycle 22 (11), 1367-1379 (2023)
   PUBMED   37115505
  REMARK    GeneRIF: MiR-17- 5p/RRM2 regulated gemcitabine resistance in lung
            cancer A549 cells.
REFERENCE   3  (bases 1 to 3258)
  AUTHORS   Perrault EN, Shireman JM, Ali ES, Lin P, Preddy I, Park C, Budhiraja
            S, Baisiwala S, Dixit K, James CD, Heiland DH, Ben-Sahra I, Pott S,
            Basu A, Miska J and Ahmed AU.
  TITLE     Ribonucleotide reductase regulatory subunit M2 drives glioblastoma
            TMZ resistance through modulation of dNTP production
  JOURNAL   Sci Adv 9 (20), eade7236 (2023)
   PUBMED   37196077
  REMARK    GeneRIF: Ribonucleotide reductase regulatory subunit M2 drives
            glioblastoma TMZ resistance through modulation of dNTP production.
REFERENCE   4  (bases 1 to 3258)
  AUTHORS   Brown A, Pan Q, Fan L, Indersie E, Tian C, Timchenko N, Li L, Hansen
            BS, Tan H, Lu M, Peng J, Pruett-Miller SM, Yu J, Cairo S and Zhu L.
  TITLE     Ribonucleotide reductase subunit switching in hepatoblastoma drug
            response and relapse
  JOURNAL   Commun Biol 6 (1), 249 (2023)
   PUBMED   36882565
  REMARK    GeneRIF: Ribonucleotide reductase subunit switching in
            hepatoblastoma drug response and relapse. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 3258)
  AUTHORS   Guittet O, Hakansson P, Voevodskaya N, Fridd S, Graslund A, Arakawa
            H, Nakamura Y and Thelander L.
  TITLE     Mammalian p53R2 protein forms an active ribonucleotide reductase in
            vitro with the R1 protein, which is expressed both in resting cells
            in response to DNA damage and in proliferating cells
  JOURNAL   J Biol Chem 276 (44), 40647-40651 (2001)
   PUBMED   11517226
REFERENCE   6  (bases 1 to 3258)
  AUTHORS   Zhou B and Yen Y.
  TITLE     Characterization of the human ribonucleotide reductase M2 subunit
            gene; genomic structure and promoter analyses
  JOURNAL   Cytogenet Cell Genet 95 (1-2), 52-59 (2001)
   PUBMED   11978970
  REMARK    GeneRIF: Characterization of the human ribonucleotide reductase M2
            subunit gene; genomic structure and promoter analyses
REFERENCE   7  (bases 1 to 3258)
  AUTHORS   Zhou B, Mo X, Liu X, Qiu W and Yen Y.
  TITLE     Human ribonucleotide reductase M2 subunit gene amplification and
            transcriptional regulation in a homogeneous staining chromosome
            region responsible for the mechanism of drug resistance
  JOURNAL   Cytogenet Cell Genet 95 (1-2), 34-42 (2001)
   PUBMED   11978967
  REMARK    GeneRIF: Human ribonucleotide reductase M2 subunit gene
            amplification and transcriptional regulation in a homogeneous
            staining chromosome region responsible for the mechanism of drug
            resistance
REFERENCE   8  (bases 1 to 3258)
  AUTHORS   Park JB and Levine M.
  TITLE     Characterization of the promoter of the human ribonucleotide
            reductase R2 gene
  JOURNAL   Biochem Biophys Res Commun 267 (2), 651-657 (2000)
   PUBMED   10631117
REFERENCE   9  (bases 1 to 3258)
  AUTHORS   Pavloff N, Rivard D, Masson S, Shen SH and Mes-Masson AM.
  TITLE     Sequence analysis of the large and small subunits of human
            ribonucleotide reductase
  JOURNAL   DNA Seq 2 (4), 227-234 (1992)
   PUBMED   1627826
REFERENCE   10  (bases 1 to 3258)
  AUTHORS   Yang-Feng TL, Barton DE, Thelander L, Lewis WH, Srinivasan PR and
            Francke U.
  TITLE     Ribonucleotide reductase M2 subunit sequences mapped to four
            different chromosomal sites in humans and mice: functional locus
            identified by its amplification in hydroxyurea-resistant cell lines
  JOURNAL   Genomics 1 (1), 77-86 (1987)
   PUBMED   3311968
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK313719.1, X59618.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000304567.10/ ENSP00000302955.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104794.4, X59618.1,
            AC118058.3 and BM994533.1.
            On Nov 22, 2018 this sequence version replaced NM_001034.3.
            Summary: This gene encodes one of two non-identical subunits for
            ribonucleotide reductase. This reductase catalyzes the formation of
            deoxyribonucleotides from ribonucleotides. Synthesis of the encoded
            protein (M2) is regulated in a cell-cycle dependent fashion.
            Transcription from this gene can initiate from alternative
            promoters, which results in two isoforms that differ in the lengths
            of their N-termini. Related pseudogenes have been identified on
            chromosomes 1 and X. [provided by RefSeq, Sep 2009].
            Transcript Variant: This variant (2) uses an alternative downstream
            promoter, and it thus has a shorter 5' UTR and uses a downstream
            translational start codon, compared to variant 1. The encoded
            isoform (2) is shorter at the N-terminus, compared to isoform 1.
            CCDS Note: This CCDS represents the transcript derived from the
            downstream promoter of this gene. Studies in both PMIDs 10631117
            and 11978970 support the presence of the downstream promoter, as do
            the 5' extents of several human and homologous transcripts.
            PMID:11978970 also provides evidence for an upstream promoter; the
            transcript derived from the upstream promoter would encode a
            protein that is 60 aa longer at the N-terminus.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3258
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.1"
     gene            1..3258
                     /gene="RRM2"
                     /gene_synonym="C2orf48; R2; RR2; RR2M"
                     /note="ribonucleotide reductase regulatory subunit M2"
                     /db_xref="GeneID:6241"
                     /db_xref="HGNC:HGNC:10452"
                     /db_xref="MIM:180390"
     CDS             61..1230
                     /gene="RRM2"
                     /gene_synonym="C2orf48; R2; RR2; RR2M"
                     /EC_number="1.17.4.1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     ribonucleotide reductase M2 polypeptide; ribonucleotide
                     reductase small chain; ribonucleoside-diphosphate reductase
                     subunit M2; ribonucleotide reductase small subunit;
                     uncharacterized protein C2orf48"
                     /codon_start=1
                     /product="ribonucleoside-diphosphate reductase subunit M2
                     isoform 2"
                     /protein_id="NP_001025.1"
                     /db_xref="CCDS:CCDS1669.1"
                     /db_xref="GeneID:6241"
                     /db_xref="HGNC:HGNC:10452"
                     /db_xref="MIM:180390"
                     /translation="MLSLRVPLAPITDPQQLQLSPLKGLSLVDKENTPPALSGTRVLAS
                     KTARRIFQEPTEPKTKAAAPGVEDEPLLRENPRRFVIFPIEYHDIWQMYKKAEASFWTA
                     EEVDLSKDIQHWESLKPEERYFISHVLAFFAASDGIVNENLVERFSQEVQITEARCFYG
                     FQIAMENIHSEMYSLLIDTYIKDPKEREFLFNAIETMPCVKKKADWALRWIGDKEATYG
                     ERVVAFAAVEGIFFSGSFASIFWLKKRGLMPGLTFSNELISRDEGLHCDFACLMFKHLV
                     HKPSEERVREIIINAVRIEQEFLTEALPVKLIGMNCTLMKQYIEFVADRLMLELGFSKV
                     FRVENPFDFMENISLEGKTNFFEKRVGEYQRMGVMSSPTENSFTLDADF"
     misc_feature    118..120
                     /gene="RRM2"
                     /gene_synonym="C2orf48; R2; RR2; RR2M"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P11157; propagated from
                     UniProtKB/Swiss-Prot (P31350.1); phosphorylation site"
     misc_feature    157..159
                     /gene="RRM2"
                     /gene_synonym="C2orf48; R2; RR2; RR2M"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:22632967; propagated from
                     UniProtKB/Swiss-Prot (P31350.1); phosphorylation site"
     misc_feature    205..213
                     /gene="RRM2"
                     /gene_synonym="C2orf48; R2; RR2; RR2M"
                     /note="propagated from UniProtKB/Swiss-Prot (P31350.1);
                     Region: Cy. /evidence=ECO:0000269|PubMed:22632967"
     regulatory      1621..1626
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RRM2"
                     /gene_synonym="C2orf48; R2; RR2; RR2M"
                     /note="hexamer: AATAAA"
     polyA_site      1644
                     /gene="RRM2"
                     /gene_synonym="C2orf48; R2; RR2; RR2M"
     regulatory      1791..1796
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RRM2"
                     /gene_synonym="C2orf48; R2; RR2; RR2M"
                     /note="hexamer: ATTAAA"
     polyA_site      1811
                     /gene="RRM2"
                     /gene_synonym="C2orf48; R2; RR2; RR2M"
     regulatory      3238..3243
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RRM2"
                     /gene_synonym="C2orf48; R2; RR2; RR2M"
                     /note="hexamer: AATAAA"
     polyA_site      3258
                     /gene="RRM2"
                     /gene_synonym="C2orf48; R2; RR2; RR2M"
                     /note="major polyA site"
ORIGIN
        1 gtgcaccctg tcccagccgt cctgtcctgg ctgctcgctc tgcttcgctg cgcctccact
       61 atgctctccc tccgtgtccc gctcgcgccc atcacggacc cgcagcagct gcagctctcg
      121 ccgctgaagg ggctcagctt ggtcgacaag gagaacacgc cgccggccct gagcgggacc
      181 cgcgtcctgg ccagcaagac cgcgaggagg atcttccagg agcccacgga gccgaaaact
      241 aaagcagctg cccccggcgt ggaggatgag ccgctgctga gagaaaaccc ccgccgcttt
      301 gtcatcttcc ccatcgagta ccatgatatc tggcagatgt ataagaaggc agaggcttcc
      361 ttttggaccg ccgaggaggt ggacctctcc aaggacattc agcactggga atccctgaaa
      421 cccgaggaga gatattttat atcccatgtt ctggctttct ttgcagcaag cgatggcata
      481 gtaaatgaaa acttggtgga gcgatttagc caagaagttc agattacaga agcccgctgt
      541 ttctatggct tccaaattgc catggaaaac atacattctg aaatgtatag tcttcttatt
      601 gacacttaca taaaagatcc caaagaaagg gaatttctct tcaatgccat tgaaacgatg
      661 ccttgtgtca agaagaaggc agactgggcc ttgcgctgga ttggggacaa agaggctacc
      721 tatggtgaac gtgttgtagc ctttgctgca gtggaaggca ttttcttttc cggttctttt
      781 gcgtcgatat tctggctcaa gaaacgagga ctgatgcctg gcctcacatt ttctaatgaa
      841 cttattagca gagatgaggg tttacactgt gattttgctt gcctgatgtt caaacacctg
      901 gtacacaaac catcggagga gagagtaaga gaaataatta tcaatgctgt tcggatagaa
      961 caggagttcc tcactgaggc cttgcctgtg aagctcattg ggatgaattg cactctaatg
     1021 aagcaataca ttgagtttgt ggcagacaga cttatgctgg aactgggttt tagcaaggtt
     1081 ttcagagtag agaacccatt tgactttatg gagaatattt cactggaagg aaagactaac
     1141 ttctttgaga agagagtagg cgagtatcag aggatgggag tgatgtcaag tccaacagag
     1201 aattctttta ccttggatgc tgacttctaa atgaactgaa gatgtgccct tacttggctg
     1261 attttttttt tccatctcat aagaaaaatc agctgaagtg ttaccaacta gccacaccat
     1321 gaattgtccg taatgttcat taacagcatc tttaaaactg tgtagctacc tcacaaccag
     1381 tcctgtctgt ttatagtgct ggtagtatca ccttttgcca gaaggcctgg ctggctgtga
     1441 cttaccatag cagtgacaat ggcagtcttg gctttaaagt gaggggtgac cctttagtga
     1501 gcttagcaca gcgggattaa acagtccttt aaccagcaca gccagttaaa agatgcagcc
     1561 tcactgcttc aacgcagatt ttaatgttta cttaaatata aacctggcac tttacaaaca
     1621 aataaacatt gtttgtactc acaaggcgat aatagcttga tttatttggt ttctacacca
     1681 aatacattct cctgaccact aatgggagcc aattcacaat tcactaagtg actaaagtaa
     1741 gttaaacttg tgtagactaa gcatgtaatt tttaagtttt attttaatga attaaaatat
     1801 ttgttaacca actttaaagt cagtcctgtg tatacctaga tattagtcag ttggtgccag
     1861 atagaagaca ggttgtgttt ttatcctgtg gcttgtgtag tgtcctggga ttctctgccc
     1921 cctctgagta gagtgttgtg ggataaagga atctctcagg gcaaggagct tcttaagtta
     1981 aatcactaga aatttagggg tgatctgggc cttcatatgt gtgagaagcc gtttcatttt
     2041 atttctcact gtattttcct caacgtctgg ttgatgagaa aaaattcttg aagagttttc
     2101 atatgtggga gctaaggtag tattgtaaaa tttcaagtca tccttaaaca aaatgatcca
     2161 cctaagatct tgcccctgtt aagtggtgaa atcaactaga ggtggttcct acaagttgtt
     2221 cattctagtt ttgtttggtg taagtaggtt gtgtgagtta attcatttat atttactatg
     2281 tctgttaaat cagaaatttt ttattatcta tgttcttcta gattttacct gtagttcata
     2341 cttcagtcac ccagtgtctt attctggcat tgtctaaatc tgagcattgt ctagggggat
     2401 cttaaacttt agtaggaaac catgagctgt taatacagtt tccattcaaa tattaatttc
     2461 agaatgaaac ataatttttt tttttttttt tgagatggag tctcgctctg ttgcccaggc
     2521 tggagtgcag tggcgcgatt ttggctcact gtaacctcca tctcctgggt tcaagcaatt
     2581 ctcctgtctc agcctcccta gtagctggga ctgcaggtat gtgctaccac acctggctaa
     2641 tttttgtatt tttagtagag atggagtttc accatattgg tcaggctggt cttgaactcc
     2701 tgacctcagg tgatccaccc acctcggcct cccaaagtgc tgggattgca ggcgtgataa
     2761 acaaatattc ttaatagggc tactttgaat taatctgcct ttatgtttgg gagaagaaag
     2821 ctgagacatt gcatgaaaga tgatgagaga taaatgttga tcttttggcc ccatttgtta
     2881 attgtattca gtatttgaac gtcgtcctgt ttattgttag ttttcttcat catttattgt
     2941 atagacaatt tttaaatctc tgtaatatga tacattttcc tatcttttaa gttattgtta
     3001 cctaaagtta atccagatta tatggtcctt atatgtgtac aacattaaaa tgaaaggctt
     3061 tgtcttgcat tgtgaggtac aggcggaagt tggaatcagg ttttaggatt ctgtctctca
     3121 ttagctgaat aatgtgagga ttaacttctg ccagctcaga ccatttccta atcagttgaa
     3181 agggaaacaa gtatttcagt ctcaaaattg aataatgcac aagtcttaag tgattaaaat
     3241 aaaactgttc ttatgtca
//
LOCUS       NM_001034077             396 bp    mRNA    linear   PRI 16-DEC-2022
DEFINITION  Homo sapiens H4 clustered histone 15 (H4C15), transcript variant 1,
            mRNA.
ACCESSION   NM_001034077
VERSION     NM_001034077.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 396)
  AUTHORS   Hammond CM, Bao H, Hendriks IA, Carraro M, Garcia-Nieto A, Liu Y,
            Reveron-Gomez N, Spanos C, Chen L, Rappsilber J, Nielsen ML, Patel
            DJ, Huang H and Groth A.
  TITLE     DNAJC9 integrates heat shock molecular chaperones into the histone
            chaperone network
  JOURNAL   Mol Cell 81 (12), 2533-2548 (2021)
   PUBMED   33857403
REFERENCE   2  (bases 1 to 396)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 396)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 396)
  AUTHORS   Kujirai T and Kurumizaka H.
  TITLE     Transcription through the nucleosome
  JOURNAL   Curr Opin Struct Biol 61, 42-49 (2020)
   PUBMED   31790919
  REMARK    Review article
REFERENCE   5  (bases 1 to 396)
  AUTHORS   Braastad CD, Hovhannisyan H, van Wijnen AJ, Stein JL and Stein GS.
  TITLE     Functional characterization of a human histone gene cluster
            duplication
  JOURNAL   Gene 342 (1), 35-40 (2004)
   PUBMED   15527963
REFERENCE   6  (bases 1 to 396)
  AUTHORS   Marzluff WF, Gongidi P, Woods KR, Jin J and Maltais LJ.
  TITLE     The human and mouse replication-dependent histone genes
  JOURNAL   Genomics 80 (5), 487-498 (2002)
   PUBMED   12408966
REFERENCE   7  (bases 1 to 396)
  AUTHORS   Grozinger CM, Hassig CA and Schreiber SL.
  TITLE     Three proteins define a class of human histone deacetylases related
            to yeast Hda1p
  JOURNAL   Proc Natl Acad Sci U S A 96 (9), 4868-4873 (1999)
   PUBMED   10220385
REFERENCE   8  (bases 1 to 396)
  AUTHORS   Aziz F, van Wijnen AJ, Vaughan PS, Wu S, Shakoori AR, Lian JB,
            Soprano KJ, Stein JL and Stein GS.
  TITLE     The integrated activities of IRF-2 (HiNF-M), CDP/cut (HiNF-D) and
            H4TF-2 (HiNF-P) regulate transcription of a cell cycle controlled
            human histone H4 gene: mechanistic differences between distinct H4
            genes
  JOURNAL   Mol Biol Rep 25 (1), 1-12 (1998)
   PUBMED   9540062
REFERENCE   9  (bases 1 to 396)
  AUTHORS   Pauli,U., Chrysogelos,S., Stein,G., Stein,J. and Nick,H.
  TITLE     Protein-DNA interactions in vivo upstream of a cell cycle-regulated
            human H4 histone gene
  JOURNAL   Science 236 (4806), 1308-1311 (1987)
   PUBMED   3035717
REFERENCE   10  (bases 1 to 396)
  AUTHORS   Green,L., Van Antwerpen,R., Stein,J., Stein,G., Tripputi,P.,
            Emanuel,B., Selden,J. and Croce,C.
  TITLE     A major human histone gene cluster on the long arm of chromosome 1
  JOURNAL   Science 226 (4676), 838-840 (1984)
   PUBMED   6494913
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: DA438762.1, DA376610.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000579512.3/ ENSP00000462355.1
            RefSeq Select criteria :: based on conservation, longest protein
            replication-dependent histone :: PMID: 15527963
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC239868.2.
            On Jun 2, 2006 this sequence version replaced NM_001034077.3.
            Summary: Histones are basic nuclear proteins that are responsible
            for the nucleosome structure of the chromosomal fiber in
            eukaryotes. This structure consists of approximately 146 bp of DNA
            wrapped around a nucleosome, an octamer composed of pairs of each
            of the four core histones (H2A, H2B, H3, and H4). The chromatin
            fiber is further compacted through the interaction of a linker
            histone, H1, with the DNA between the nucleosomes to form higher
            order chromatin structures. This gene encodes a
            replication-dependent histone that is a member of the histone H4
            family. Some transcripts from this gene lack polyA tails; instead,
            they contain a palindromic termination element. This gene is found
            in a histone cluster on chromosome 1. This gene is one of four
            histone genes in the cluster that are duplicated; this record
            represents the telomeric copy. [provided by RefSeq, May 2020].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..396
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     gene            1..396
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="H4 clustered histone 15"
                     /db_xref="GeneID:554313"
                     /db_xref="HGNC:HGNC:29607"
     CDS             29..340
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="histone 2, H4b; histone cluster 2, H4b; histone
                     cluster 2 H4 family member b"
                     /codon_start=1
                     /product="histone H4"
                     /protein_id="NP_001029249.1"
                     /db_xref="CCDS:CCDS30851.1"
                     /db_xref="GeneID:554313"
                     /db_xref="HGNC:HGNC:29607"
                     /translation="MSGRGKGGKGLGKGGAKRHRKVLRDNIQGITKPAIRRLARRGGVK
                     RISGLIYEETRGVLKVFLENVIRDAVTYTEHAKRKTVTAMDVVYALKRQGRTLYGFGG"
     misc_feature    29..88
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="propagated from UniProtKB/Swiss-Prot (P62805.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    32..34
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:17967882; propagated from
                     UniProtKB/Swiss-Prot (P62805.2); acetylation site"
     misc_feature    32..34
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:17967882; propagated from
                     UniProtKB/Swiss-Prot (P62805.2); phosphorylation site"
     misc_feature    38..40
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="Asymmetric dimethylarginine, by PRMT1, alternate.
                     /evidence=ECO:0000269|PubMed:11387442,
                     ECO:0000269|PubMed:11448779, ECO:0000269|PubMed:15345777;
                     Omega-N-methylarginine, by PRMT1, alternate.
                     /evidence=ECO:0000269|PubMed:11387442,
                     ECO:0000269|PubMed:11448779, ECO:0000269|PubMed:15345777;
                     Symmetric dimethylarginine, by PRMT5 and PRMT7, alternate.
                     /evidence=ECO:0000250|UniProtKB:P62806; propagated from
                     UniProtKB/Swiss-Prot (P62805.2); methylation site"
     misc_feature    44..46
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:2474456,
                     ECO:0000269|PubMed:7664735, ECO:0007744|PubMed:19608861;
                     propagated from UniProtKB/Swiss-Prot (P62805.2);
                     acetylation site"
     misc_feature    53..55
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:2474456,
                     ECO:0000269|PubMed:7664735, ECO:0007744|PubMed:19608861;
                     propagated from UniProtKB/Swiss-Prot (P62805.2);
                     acetylation site"
     misc_feature    65..67
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17967882,
                     ECO:0000269|PubMed:2474456, ECO:0000269|PubMed:7664735,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62805.2); acetylation site"
     misc_feature    65..67
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:31061526; propagated from
                     UniProtKB/Swiss-Prot (P62805.2); methylation site"
     misc_feature    77..79
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:17967882,
                     ECO:0000269|PubMed:2474456, ECO:0000269|PubMed:7664735,
                     ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62805.2); acetylation site"
     misc_feature    89..91
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="N6,N6,N6-trimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:12086618,
                     ECO:0000269|PubMed:15964846, ECO:0000269|PubMed:17967882;
                     N6,N6-dimethyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:12086618,
                     ECO:0000269|PubMed:15964846, ECO:0000269|PubMed:17967882;
                     N6-methyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:12086618,
                     ECO:0000269|PubMed:15964846, ECO:0000269|PubMed:17967882,
                     ECO:0000269|PubMed:27338793; propagated from
                     UniProtKB/Swiss-Prot (P62805.2); methylation site"
     misc_feature    122..124
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P62805.2); acetylation site"
     misc_feature    170..172
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="Phosphoserine, by PAK2.
                     /evidence=ECO:0000269|PubMed:21724829,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P62805.2); phosphorylation site"
     misc_feature    182..184
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P62805.2); phosphorylation site"
     misc_feature    269..271
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P62806; propagated from
                     UniProtKB/Swiss-Prot (P62805.2); phosphorylation site"
     misc_feature    293..295
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P62805.2); phosphorylation site"
     misc_feature    302..304
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:19818714; propagated from
                     UniProtKB/Swiss-Prot (P62805.2); acetylation site"
     stem_loop       376..391
                     /gene="H4C15"
                     /gene_synonym="H4-16; H4/o; H4C1; H4C11; H4C12; H4C13;
                     H4C14; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9;
                     HIST2H4B"
                     /note="palindromic termination element"
                     /function="transcription termination"
ORIGIN
        1 agaagctgtc tatcgggctc cagcggtcat gtccggcaga ggaaagggcg gaaaaggctt
       61 aggcaaaggg ggcgctaagc gccaccgcaa ggtcttgaga gacaacattc agggcatcac
      121 caagcctgcc attcggcgtc tagctcggcg tggcggcgtt aagcggatct ctggcctcat
      181 ttacgaggag acccgcggtg tgctgaaggt gttcctggag aatgtgattc gggacgcagt
      241 cacctacacc gagcacgcca agcgcaagac cgtcacagcc atggatgtgg tgtacgcgct
      301 caagcgccag gggcgcaccc tgtacggctt cggaggctag gccgccgctc cagctttgca
      361 cgtttcgatc ccaaaggccc tttttagggc cgacca
//
LOCUS       NM_001034116            1644 bp    mRNA    linear   PRI 20-APR-2023
DEFINITION  Homo sapiens eukaryotic translation initiation factor 2B subunit
            delta (EIF2B4), transcript variant 2, mRNA.
ACCESSION   NM_001034116
VERSION     NM_001034116.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1644)
  AUTHORS   Shivaram S, Nagappa M, Seshagiri DV, Saini J, Govindaraj P, Sinha S,
            Bindu PS and Taly AB.
  TITLE     Leukodystrophy Due to eIF2B Mutations in Adults
  JOURNAL   Can J Neurol Sci 49 (5), 708-712 (2022)
   PUBMED   34663487
  REMARK    GeneRIF: Leukodystrophy Due to eIF2B Mutations in Adults.
REFERENCE   2  (bases 1 to 1644)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1644)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1644)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1644)
  AUTHORS   Yang W and Hinnebusch AG.
  TITLE     Identification of a regulatory subcomplex in the guanine nucleotide
            exchange factor eIF2B that mediates inhibition by phosphorylated
            eIF2
  JOURNAL   Mol Cell Biol 16 (11), 6603-6616 (1996)
   PUBMED   8887689
REFERENCE   6  (bases 1 to 1644)
  AUTHORS   Price NT, Mellor H, Craddock BL, Flowers KM, Kimball SR, Wilmer T,
            Jefferson LS and Proud CG.
  TITLE     eIF2B, the guanine nucleotide-exchange factor for eukaryotic
            initiation factor 2. Sequence conservation between the alpha, beta
            and delta subunits of eIF2B from mammals and yeast
  JOURNAL   Biochem J 318 (Pt 2) (Pt 2), 637-643 (1996)
   PUBMED   8929216
REFERENCE   7  (bases 1 to 1644)
  AUTHORS   Welsh GI, Miyamoto S, Price NT, Safer B and Proud CG.
  TITLE     T-cell activation leads to rapid stimulation of translation
            initiation factor eIF2B and inactivation of glycogen synthase
            kinase-3
  JOURNAL   J Biol Chem 271 (19), 11410-11413 (1996)
   PUBMED   8626696
REFERENCE   8  (bases 1 to 1644)
  AUTHORS   Henderson RA, Krissansen GW, Yong RY, Leung E, Watson JD and
            Dholakia JN.
  TITLE     The delta-subunit of murine guanine nucleotide exchange factor
            eIF-2B. Characterization of cDNAs predicts isoforms differing at the
            amino-terminal end
  JOURNAL   J Biol Chem 269 (48), 30517-30523 (1994)
   PUBMED   7982969
REFERENCE   9  (bases 1 to 1644)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   24501781
REFERENCE   10  (bases 1 to 1644)
  AUTHORS   van der Knaap,M.S., Fogli,A., Boespflug-Tanguy,O., Abbink,T.E.M. and
            Schiffmann,R.
  TITLE     Childhood Ataxia with Central Nervous System Hypomyelination /
            Vanishing White Matter
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301435
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF112207.1, BC091502.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000347454.9/ ENSP00000233552.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from JQ991007.1, BC091502.1 and
            AF112207.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 27, 2019 this sequence version replaced NM_001034116.1.
            Summary: Eukaryotic initiation factor 2B (EIF2B), which is
            necessary for protein synthesis, is a GTP exchange factor composed
            of five different subunits. The protein encoded by this gene is the
            fourth, or delta, subunit. Defects in this gene are a cause of
            leukoencephalopathy with vanishing white matter (VWM) and
            ovarioleukodystrophy. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 4. The resulting isoform (2)
            has a shorter and distinct N-terminus compared to isoform 4.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1644
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..1644
                     /gene="EIF2B4"
                     /gene_synonym="EIF-2B; EIF2B; EIF2Bdelta; VWM4"
                     /note="eukaryotic translation initiation factor 2B subunit
                     delta"
                     /db_xref="GeneID:8890"
                     /db_xref="HGNC:HGNC:3260"
                     /db_xref="MIM:606687"
     CDS             25..1596
                     /gene="EIF2B4"
                     /gene_synonym="EIF-2B; EIF2B; EIF2Bdelta; VWM4"
                     /note="isoform 2 is encoded by transcript variant 2;
                     translation initiation factor eIF-2b delta subunit;
                     translation initiation factor eIF-2B subunit delta; eIF-2B
                     GDP-GTP exchange factor subunit delta; eukaryotic
                     translation initiation factor 2B subunit 4 delta;
                     eukaryotic translation initiation factor 2B, subunit 4
                     delta, 67kDa"
                     /codon_start=1
                     /product="translation initiation factor eIF-2B subunit
                     delta isoform 2"
                     /protein_id="NP_001029288.1"
                     /db_xref="CCDS:CCDS33164.1"
                     /db_xref="GeneID:8890"
                     /db_xref="HGNC:HGNC:3260"
                     /db_xref="MIM:606687"
                     /translation="MAAVAVAVREDSGSGMKAELPPGPGAVGREMTKEEKLQLRKEKKQ
                     QKKKRKEEKGAEPETGSAVSAAQCQVGPTRELPESGIQLGTPREKVPAGRSKAELRAER
                     RAKQEAERALKQARKGEQGGPPPKASPSTAGETPSGVKRLPEYPQVDDLLLRRLVKKPE
                     RQQVPTRKDYGSKVSLFSHLPQYSRQNSLTQFMSIPSSVIHPAMVRLGLQYSQGLVSGS
                     NARCIALLRALQQVIQDYTTPPNEELSRDLVNKLKPYMSFLTQCRPLSASMHNAIKFLN
                     KEITSVGSSKREEEAKSELRAAIDRYVQEKIVLAAQAISRFAYQKISNGDVILVYGCSS
                     LVSRILQEAWTEGRRFRVVVVDSRPWLEGRHTLRSLVHAGVPASYLLIPAASYVLPEVS
                     KVLLGAHALLANGSVMSRVGTAQLALVARAHNVPVLVCCETYKFCERVQTDAFVSNELD
                     DPDDLQCKRGEHVALANWQNHASLRLLNLVYDVTPPELVDLVITELGMIPCSSVPVVLR
                     VKSSDQ"
     misc_feature    25..465
                     /gene="EIF2B4"
                     /gene_synonym="EIF-2B; EIF2B; EIF2Bdelta; VWM4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UI10.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    28..30
                     /gene="EIF2B4"
                     /gene_synonym="EIF-2B; EIF2B; EIF2Bdelta; VWM4"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9UI10.2); acetylation site"
     misc_feature    58..60
                     /gene="EIF2B4"
                     /gene_synonym="EIF-2B; EIF2B; EIF2Bdelta; VWM4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UI10.2); phosphorylation site"
     misc_feature    280..282
                     /gene="EIF2B4"
                     /gene_synonym="EIF-2B; EIF2B; EIF2Bdelta; VWM4"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UI10.2); phosphorylation site"
     misc_feature    412..414
                     /gene="EIF2B4"
                     /gene_synonym="EIF-2B; EIF2B; EIF2Bdelta; VWM4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UI10.2); phosphorylation site"
     regulatory      1615..1620
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EIF2B4"
                     /gene_synonym="EIF-2B; EIF2B; EIF2Bdelta; VWM4"
                     /note="hexamer: AATAAA"
     polyA_site      1644
                     /gene="EIF2B4"
                     /gene_synonym="EIF-2B; EIF2B; EIF2Bdelta; VWM4"
                     /note="major polyA site"
ORIGIN
        1 gggcggagcc taggactgag ggcgatggct gctgtggccg tggctgttcg cgaggactcg
       61 ggatccggga tgaaggcgga gcttccccct gggcctgggg cagtggggag ggaaatgacc
      121 aaagaagaaa agctgcagct tcggaaggaa aagaaacagc agaagaagaa acggaaggaa
      181 gaaaaggggg cagaaccaga gactggctct gctgtatctg cagcccaatg tcaagtaggc
      241 ccaaccagag aactgccaga atcgggcatt cagttgggca ctcctcggga gaaagttcca
      301 gctggtcgga gtaaggccga acttcgggct gagcgtcgag ccaagcagga ggccgagcgg
      361 gccctgaaac aggcaagaaa aggggaacaa ggaggaccac ctcctaaggc cagccccagc
      421 acagctggag aaaccccctc aggagtgaag cgtctccctg agtaccctca ggttgatgac
      481 ctacttctga gaaggcttgt taaaaaacca gagcgtcaac aggttcctac acgaaaggat
      541 tatggatcca aagtcagtct cttctctcac ctaccccagt acagcagaca aaactctctg
      601 acccagttta tgagcatccc atcctctgtg atccacccag ccatggtgcg actcggcctg
      661 cagtactccc agggcctggt cagtggctcc aatgcccggt gtattgccct gcttcgtgcc
      721 ttgcagcagg tgattcagga ttacacaaca ccgcctaatg aagaactctc cagggatcta
      781 gtgaataaac taaaacccta catgagcttc ctgactcagt gccgtcccct gtcagcgagc
      841 atgcacaacg ccatcaagtt ccttaacaag gaaatcacca gtgtgggcag ttccaagcgg
      901 gaagaggagg ccaagtcaga acttcgagca gccattgatc ggtatgtgca agagaagatt
      961 gtgctagcag ctcaggcaat ttcacgcttt gcttaccaga agatcagtaa tggagatgtg
     1021 atcctggtat atggatgctc atctctggta tcacgaattc ttcaggaggc ttggacagag
     1081 ggccggcggt ttcgggtggt agtggtggac agccggccat ggctggaagg aaggcacaca
     1141 ctacgttctc tagtccatgc tggtgtccca gcctcctacc tgctgattcc tgcagcctcc
     1201 tatgtgctcc cagaggtttc caaggtgcta ttgggagctc atgcactctt ggccaacggg
     1261 tctgtgatgt cacgggtagg gacagcacag ttagccctgg tggctcgagc ccataatgta
     1321 ccagtgctgg tttgctgtga aacatacaag ttctgtgagc gtgtgcagac tgatgccttt
     1381 gtctctaatg agctagatga ccctgatgat ctgcaatgta agcggggaga acatgttgcg
     1441 ctggctaact ggcagaacca cgcatcccta cggttgttga atctagtcta tgatgtgact
     1501 cccccagagc ttgtggatct ggtgatcacg gagctgggga tgatcccttg cagttctgta
     1561 cctgttgttc tacgagtcaa gagcagtgac cagtgacggg ggaaacacag ggttaataaa
     1621 tgccatactc cctaccctca gcaa
//
LOCUS       NM_001034172            1297 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens solute carrier family 25 member 52 (SLC25A52), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_001034172
VERSION     NM_001034172.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1297)
  AUTHORS   Luongo TS, Eller JM, Lu MJ, Niere M, Raith F, Perry C, Bornstein MR,
            Oliphint P, Wang L, McReynolds MR, Migaud ME, Rabinowitz JD, Johnson
            FB, Johnsson K, Ziegler M, Cambronne XA and Baur JA.
  TITLE     SLC25A51 is a mammalian mitochondrial NAD+ transporter
  JOURNAL   Nature 588 (7836), 174-179 (2020)
   PUBMED   32906142
REFERENCE   2  (bases 1 to 1297)
  AUTHORS   Palmieri F.
  TITLE     The mitochondrial transporter family SLC25: identification,
            properties and physiopathology
  JOURNAL   Mol Aspects Med 34 (2-3), 465-484 (2013)
   PUBMED   23266187
  REMARK    GeneRIF: Compares and contrasts all the known human SLC25A* genes
            and includes functional information. Review article
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AK302337.1, BC104001.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000269205.7/ ENSP00000372612.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB057843.1, BC104001.1 and AC022960.13.
            On Sep 25, 2019 this sequence version replaced NM_001034172.3.
            Summary: This gene is similar to the mitochondrial carrier triple
            repeat 1 gene on chromosome 9. The gene is intronless and may be an
            evolving pseudogene; however, it is transcribed and it contains a
            full-length coding region so it is currently classified as a
            protein-coding locus. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..1297
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     gene            1..1297
                     /gene="SLC25A52"
                     /gene_synonym="MCART2"
                     /note="solute carrier family 25 member 52"
                     /db_xref="GeneID:147407"
                     /db_xref="HGNC:HGNC:23324"
                     /db_xref="MIM:616153"
     misc_feature    184..186
                     /gene="SLC25A52"
                     /gene_synonym="MCART2"
                     /note="upstream in-frame stop codon"
     misc_feature    190..192
                     /gene="SLC25A52"
                     /gene_synonym="MCART2"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MPFMRKILSN"
     misc_feature    199..201
                     /gene="SLC25A52"
                     /gene_synonym="MCART2"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MRKILSN"
     CDS             220..1113
                     /gene="SLC25A52"
                     /gene_synonym="MCART2"
                     /note="mitochondrial carrier triple repeat protein 2;
                     mitochondrial carrier triple repeat 2; mitochondrial NAD(+)
                     transporter SLC25A52"
                     /codon_start=1
                     /product="mitochondrial nicotinamide adenine dinucleotide
                     transporter SLC25A52"
                     /protein_id="NP_001029344.4"
                     /db_xref="CCDS:CCDS32812.3"
                     /db_xref="GeneID:147407"
                     /db_xref="HGNC:HGNC:23324"
                     /db_xref="MIM:616153"
                     /translation="MIDSEAHEKRPPILTSSKQDISPHITNVGEMKHYLCGCCAAFNNV
                     AITYPIQKVLFRQQLYGIKTRDAVLQLRRDGFRNLYRGILPPLMQKTTTLALMFGLYED
                     LSCLLRKHVRAPEFATHGVAAVLAGTAEAIFTPLERVQTLLQNHKHHDKFTNTYQAFKA
                     LKCHGIGEYYRGLVPILFRNGLSNVLFFGLRGPIKEHLPTATTHSAHLVNDFIGGGLLG
                     AMLGFLCFPINVVKTRLQSQIGGEFQSFPKVFQKIWLERDRKLINLFRGAHLNYHRSLI
                     SWGIINATYEFLLKFI"
     misc_feature    301..543
                     /gene="SLC25A52"
                     /gene_synonym="MCART2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SY17.2);
                     Region: Solcar 1. /evidence=ECO:0000255"
     misc_feature    319..372
                     /gene="SLC25A52"
                     /gene_synonym="MCART2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SY17.2);
                     transmembrane region"
     misc_feature    472..534
                     /gene="SLC25A52"
                     /gene_synonym="MCART2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SY17.2);
                     transmembrane region"
     misc_feature    565..819
                     /gene="SLC25A52"
                     /gene_synonym="MCART2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SY17.2);
                     Region: Solcar 2. /evidence=ECO:0000255"
     misc_feature    571..633
                     /gene="SLC25A52"
                     /gene_synonym="MCART2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SY17.2);
                     transmembrane region"
     misc_feature    754..816
                     /gene="SLC25A52"
                     /gene_synonym="MCART2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SY17.2);
                     transmembrane region"
     misc_feature    844..1107
                     /gene="SLC25A52"
                     /gene_synonym="MCART2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SY17.2);
                     Region: Solcar 3. /evidence=ECO:0000255"
     misc_feature    862..924
                     /gene="SLC25A52"
                     /gene_synonym="MCART2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SY17.2);
                     transmembrane region"
     misc_feature    1021..1086
                     /gene="SLC25A52"
                     /gene_synonym="MCART2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SY17.2);
                     transmembrane region"
     regulatory      1275..1280
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A52"
                     /gene_synonym="MCART2"
                     /note="hexamer: AATAAA"
     polyA_site      1297
                     /gene="SLC25A52"
                     /gene_synonym="MCART2"
                     /note="major polyA site"
ORIGIN
        1 gcagtcctgc ggggcgccgg cggcgatggg ttggggaaat ggacgcctgg agaacggaaa
       61 tccagttatc aaaatggact cgggaagaga gaacctaaca gaacaataac aatggaagaa
      121 attgggaaca ttatcacaaa gctatcatcc tgccaaactc caggctcaga tgatgtcaca
      181 ggttaaaaaa tgcccttcat gagaaagatc ttaagcaaca tgatagattc agaagctcat
      241 gaaaagaggc caccaatact tacatcttca aaacaagata tatcacctca tattacaaat
      301 gttggtgaaa tgaagcatta cttgtgtggc tgctgtgcag ccttcaacaa cgtcgcaatc
      361 acatatccca ttcagaaggt cctctttcgg caacagctgt atggcatcaa aacccgggat
      421 gcagtacttc agttgagaag ggatggattt cgaaatttgt atcgtggaat ccttccccca
      481 ttgatgcaga agacaactac gcttgcactt atgtttggtc tgtatgagga tttatcctgc
      541 cttctccgga agcatgtccg tgctccagag tttgcaaccc atggcgtggc ggcagtgctt
      601 gcagggacag cagaagcaat tttcactcca ctggaaagag ttcagacatt gcttcaaaac
      661 cacaagcatc atgacaaatt taccaacact tatcaggctt tcaaggcact gaaatgtcat
      721 ggaattggag agtattatcg aggcttggtg cccattcttt tccggaatgg actcagcaat
      781 gtcttgtttt tcggccttcg aggtcccatt aaggagcatc tgcctaccgc aacgactcac
      841 agtgctcatt tggtcaatga ttttatcggt ggaggtctat tgggtgccat gttgggattc
      901 ttgtgttttc caattaatgt tgtaaaaact cgcctacagt ctcagattgg tggggaattt
      961 cagtctttcc ccaaggtttt ccaaaaaatc tggctggaac gggacagaaa actgataaat
     1021 cttttcagag gtgcccatct gaattaccat cggtccctca tctcttgggg cataatcaat
     1081 gcaacttatg agttcttgtt aaaatttata tgaaaaaaaa ccatcagtta agtgccattt
     1141 atcaactgaa tagaccttct aagaagaatg cagtttggcc tctttcttaa ttggccaaat
     1201 acaagttcgt gtcataactc caggccacag tgagttacgg gcaaagctgt tttccttaag
     1261 catcaacaaa acagaataaa aggttccaat aggaaaa
//
LOCUS       NM_001034173            7428 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens aldehyde dehydrogenase 1 family member L2 (ALDH1L2),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001034173
VERSION     NM_001034173.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7428)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 7428)
  AUTHORS   Lauc G, Huffman JE, Pucic M, Zgaga L, Adamczyk B, Muzinic A,
            Novokmet M, Polasek O, Gornik O, Kristic J, Keser T, Vitart V,
            Scheijen B, Uh HW, Molokhia M, Patrick AL, McKeigue P, Kolcic I,
            Lukic IK, Swann O, van Leeuwen FN, Ruhaak LR, Houwing-Duistermaat
            JJ, Slagboom PE, Beekman M, de Craen AJ, Deelder AM, Zeng Q, Wang W,
            Hastie ND, Gyllensten U, Wilson JF, Wuhrer M, Wright AF, Rudd PM,
            Hayward C, Aulchenko Y, Campbell H and Rudan I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet 9 (1), e1003225 (2013)
   PUBMED   23382691
REFERENCE   3  (bases 1 to 7428)
  AUTHORS   Strickland KC, Krupenko NI, Dubard ME, Hu CJ, Tsybovsky Y and
            Krupenko SA.
  TITLE     Enzymatic properties of ALDH1L2, a mitochondrial
            10-formyltetrahydrofolate dehydrogenase
  JOURNAL   Chem Biol Interact 191 (1-3), 129-136 (2011)
   PUBMED   21238436
  REMARK    GeneRIF: ALDH1L2 has enzymatic properties similar to its cytosolic
            counterpart
REFERENCE   4  (bases 1 to 7428)
  AUTHORS   Yan D, He D, He S, Chen X, Fan Z and Chen R.
  TITLE     Identification and analysis of intermediate size noncoding RNAs in
            the human fetal brain
  JOURNAL   PLoS One 6 (7), e21652 (2011)
   PUBMED   21789175
REFERENCE   5  (bases 1 to 7428)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer
            JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
REFERENCE   6  (bases 1 to 7428)
  AUTHORS   Krupenko NI, Dubard ME, Strickland KC, Moxley KM, Oleinik NV and
            Krupenko SA.
  TITLE     ALDH1L2 is the mitochondrial homolog of 10-formyltetrahydrofolate
            dehydrogenase
  JOURNAL   J Biol Chem 285 (30), 23056-23063 (2010)
   PUBMED   20498374
  REMARK    GeneRIF: a gene at chromosome locus 12q24.11 of the human genome,
            the product of which has 74% sequence similarity with cytosolic FDH
REFERENCE   7  (bases 1 to 7428)
  AUTHORS   Strickland KC, Hoeferlin LA, Oleinik NV, Krupenko NI and Krupenko
            SA.
  TITLE     Acyl carrier protein-specific 4'-phosphopantetheinyl transferase
            activates 10-formyltetrahydrofolate dehydrogenase
  JOURNAL   J Biol Chem 285 (3), 1627-1633 (2010)
   PUBMED   19933275
  REMARK    GeneRIF: Our study identifies human PPT as the FDH-modifying enzyme
            and supports the hypothesis that mammals utilize a single enzyme for
            all phosphopantetheinylation reactions.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK300373.1, SRR1660809.130395.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 20379614; reported by
            MitoCarta
            MANE Ensembl match :: ENST00000258494.14/ ENSP00000258494.9
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK300373.1, BC103935.1,
            AC090051.8 and CA418450.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001034173.3.
            Summary: This gene encodes a member of both the aldehyde
            dehydrogenase superfamily and the formyl transferase superfamily.
            This member is the mitochondrial form of 10-formyltetrahydrofolate
            dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to
            tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and
            plays an essential role in the distribution of one-carbon groups
            between the cytosolic and mitochondrial compartments of the cell.
            Alternatively spliced transcript variants have been found for this
            gene.[provided by RefSeq, Oct 2010].
            Transcript Variant: This variant (1) encodes a functional protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7428
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.3"
     gene            1..7428
                     /gene="ALDH1L2"
                     /gene_synonym="mtFDH"
                     /note="aldehyde dehydrogenase 1 family member L2"
                     /db_xref="GeneID:160428"
                     /db_xref="HGNC:HGNC:26777"
                     /db_xref="MIM:613584"
     CDS             23..2794
                     /gene="ALDH1L2"
                     /gene_synonym="mtFDH"
                     /EC_number="1.5.1.6"
                     /note="mitochondrial 10-formyltetrahydrofolate
                     dehydrogenase; 10-formyltetrahydrofolate dehydrogenase
                     ALDH1L2; probable 10-formyltetrahydrofolate dehydrogenase
                     ALDH1L2; aldehyde dehydrogenase family 1 member L2,
                     mitochondrial; mitochondrial 10-FTHFDH"
                     /codon_start=1
                     /product="mitochondrial 10-formyltetrahydrofolate
                     dehydrogenase precursor"
                     /protein_id="NP_001029345.2"
                     /db_xref="CCDS:CCDS31891.1"
                     /db_xref="GeneID:160428"
                     /db_xref="HGNC:HGNC:26777"
                     /db_xref="MIM:613584"
                     /translation="MLRRGSQALRRFSTGRVYFKNKLKLALIGQSLFGQEVYSHLRKEG
                     HRVVGVFTVPDKDGKADPLALAAEKDGTPVFKLPKWRVKGKTIKEVAEAYRSVGAELNV
                     LPFCTQFIPMDIIDSPKHGSIIYHPSILPRHRGASAINWTLIMGDKKAGFSVFWADDGL
                     DTGPILLQRSCDVEPNDTVDALYNRFLFPEGIKAMVEAVQLIADGKAPRIPQPEEGATY
                     EGIQKKENAEISWDQSAEVLHNWIRGHDKVPGAWTEINGQMVTFYGSTLLNSSVPPGEP
                     LEIKGAKKPGLVTKNGLVLFGNDGKALTVRNLQFEDGKMIPASQYFSTGETSVVELTAE
                     EVKVAETIKVIWAGILSNVPIIEDSTDFFKSGASSMDVARLVEEIRQKCGGLQLQNEDV
                     YMATKFEGFIQKVVRKLRGEDQEVELVVDYISKEVNEIMVKMPYQCFINGQFTDADDGK
                     TYDTINPTDGSTICKVSYASLADVDKAVAAAKDAFENGEWGRMNARERGRLMYRLADLL
                     EENQEELATIEALDSGAVYTLALKTHIGMSVQTFRYFAGWCDKIQGSTIPINQARPNRN
                     LTFTKKEPLGVCAIIIPWNYPLMMLAWKSAACLAAGNTLVLKPAQVTPLTALKFAELSV
                     KAGFPKGVINIIPGSGGIAGQRLSEHPDIRKLGFTGSTPIGKQIMKSCAVSNLKKVSLE
                     LGGKSPLIIFNDCELDKAVRMGMGAVFFNKGENCIAAGRLFVEESIHDEFVTRVVEEIK
                     KMKIGDPLDRSTDHGPQNHKAHLEKLLQYCETGVKEGATLVYGGRQVQRPGFFMEPTVF
                     TDVEDYMYLAKEESFGPIMVISKFQNGDIDGVLQRANSTEYGLASGVFTRDINKAMYVS
                     EKLEAGTVFINTYNKTDVAAPFGGVKQSGFGKDLGEEALNEYLKTKTVTLEY"
     transit_peptide 23..88
                     /gene="ALDH1L2"
                     /gene_synonym="mtFDH"
     mat_peptide     89..2791
                     /gene="ALDH1L2"
                     /gene_synonym="mtFDH"
                     /product="mitochondrial 10-formyltetrahydrofolate
                     dehydrogenase"
     misc_feature    89..1015
                     /gene="ALDH1L2"
                     /gene_synonym="mtFDH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SY69.2);
                     Region: Hydrolase domain.
                     /evidence=ECO:0000250|UniProtKB:P28037"
     misc_feature    113..115
                     /gene="ALDH1L2"
                     /gene_synonym="mtFDH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O75891; propagated from
                     UniProtKB/Swiss-Prot (Q3SY69.2); phosphorylation site"
     misc_feature    512..514
                     /gene="ALDH1L2"
                     /gene_synonym="mtFDH"
                     /note="Essential for catalytic activity.
                     /evidence=ECO:0000250|UniProtKB:P28037; propagated from
                     UniProtKB/Swiss-Prot (Q3SY69.2); other site"
     misc_feature    1334..2791
                     /gene="ALDH1L2"
                     /gene_synonym="mtFDH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3SY69.2);
                     Region: Aldehyde dehydrogenase domain.
                     /evidence=ECO:0000250|UniProtKB:P28037"
     misc_feature    1970..1972
                     /gene="ALDH1L2"
                     /gene_synonym="mtFDH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:O75891; propagated from
                     UniProtKB/Swiss-Prot (Q3SY69.2); phosphorylation site"
     misc_feature    2729..2731
                     /gene="ALDH1L2"
                     /gene_synonym="mtFDH"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q3SY69.2); acetylation site"
ORIGIN
        1 agtgctagcg ctcctctcca gcatgctgcg gcggggcagc caggcgctcc ggcgcttctc
       61 cactggccgg gtttatttca aaaacaagct gaagttggca ctaattggcc agagcctctt
      121 tggacaagaa gtctatagcc acctccgcaa agagggccac cgagtagtag gggtgttcac
      181 agttccagac aaggatggaa aagctgaccc tctggctttg gctgcagaga aagatgggac
      241 ccctgtgttc aagcttccta aatggagggt caagggcaag accatcaaag aagtggcaga
      301 agcctacaga tccgtgggtg cagagctaaa tgtgctccct ttctgcactc agttcattcc
      361 catggatata attgatagtc caaagcacgg ctctatcatt tatcacccat ccatcctgcc
      421 caggcacaga ggagcctctg ctatcaattg gactctaatt atgggagata agaaagctgg
      481 gttttctgtt ttctgggctg atgatggctt ggatacagga cccatccttc ttcagagatc
      541 atgtgatgtt gaacccaatg atacagtgga tgcactttat aatcggtttc tttttcctga
      601 aggaatcaag gccatggtag aagctgtcca actcatagct gatggaaaag ctcctcgtat
      661 accccagcca gaagaagggg caacatatga aggtatccag aaaaaggaaa atgctgagat
      721 ttcttgggac cagtctgccg aagttttaca taactggatt cgaggtcatg ataaagtccc
      781 tggagcttgg acagagataa atggacagat ggtcactttc tatggctcga cattactgaa
      841 tagctctgtg cctcctggag aaccactgga aattaaaggt gccaagaagc ctggtctcgt
      901 taccaaaaat ggacttgttc tttttggtaa cgatggaaaa gcactgacgg tgagaaatct
      961 gcagtttgaa gatggaaaaa tgatccctgc ctctcagtac ttttcaacgg gtgagacgtc
     1021 agtggtagaa ctgacagctg aagaggtgaa agtggcagag accatcaagg tcatctgggc
     1081 tggaatttta agcaatgtcc ccattattga agactcaaca gacttcttta aatctggagc
     1141 aagctcaatg gatgttgcca ggctggttga agagatcaga cagaaatgtg gtgggcttca
     1201 gttgcagaat gaagatgtct atatggccac caagtttgaa ggctttatcc aaaaggtcgt
     1261 gaggaaactg agaggagaag atcaagaggt ggagctggtt gtagattata tttcaaagga
     1321 ggtcaatgaa atcatggtaa aaatgccata ccagtgtttc ataaatggac agttcacaga
     1381 tgcagacgat ggaaagactt acgacactat caacccaaca gatggatcta caatatgcaa
     1441 agtatcctac gcttctttgg cggatgttga taaagcagta gcagcagcaa aagatgcttt
     1501 tgaaaacggt gaatggggaa gaatgaatgc aagagaaaga ggaagattga tgtatagact
     1561 tgcagaccta ctggaagaga accaagaaga gctggcaact attgaagccc ttgattcagg
     1621 ggctgtctat accttggccc tgaagacaca cattggaatg tctgtgcaaa cattcagata
     1681 ttttgctggc tggtgcgaca aaattcaggg ttctactatt ccaatcaacc aggcccgtcc
     1741 aaatcgcaat ctgaccttca ccaagaaaga gccactcggt gtctgtgcca ttattattcc
     1801 ctggaactac ccgctgatga tgctggcatg gaagagtgct gcgtgtttgg cagcaggcaa
     1861 taccttagtg ctcaagccag cacaggtcac gcccttgact gctttgaagt ttgcagaact
     1921 gtctgtgaaa gcaggctttc caaagggggt catcaacatc attccaggct caggtggcat
     1981 agcaggacaa cgtctgtctg aacatcctga catccgcaaa cttggtttca ctggatccac
     2041 tcctattggc aaacagatca tgaagagctg tgctgttagc aacttgaaga aagtttccct
     2101 tgagcttggt ggcaagtctc cacttataat atttaatgac tgtgaacttg acaaggctgt
     2161 gcgaatgggc atgggagcag tatttttcaa caaaggagag aactgtattg ctgctgggcg
     2221 gttgttcgtg gaagaatcca tccacgacga atttgtgaca agagtggtag aagaaattaa
     2281 aaagatgaaa attggtgatc cacttgacag atccactgat catgggcccc aaaatcataa
     2341 ggctcatctg gaaaagctgc tgcaatactg tgaaactgga gtgaaagaag gggccacttt
     2401 ggtgtacggg ggaagacaag tccaaaggcc aggctttttc atggagccga ccgtgttcac
     2461 agatgtggaa gactacatgt acctcgccaa agaggaatcc tttgggccta ttatggtcat
     2521 ttctaaattc caaaatgggg acatcgatgg agtgttgcag cgagcaaata gtacagagta
     2581 tggtttggcc tcaggggttt ttacaagaga cataaacaaa gctatgtatg tgagtgaaaa
     2641 actggaagca ggaactgttt ttattaacac atacaacaag acagatgtgg cggccccatt
     2701 tggcggagtt aaacaatctg gctttggaaa agacttaggt gaggaagctc taaatgaata
     2761 tctcaaaacc aagacggtga cactggaata ttagagcaac accatcatca ggaaagcctt
     2821 gacagacagc cctttacaac tctggacaca cttaagaaga ttgggtgtgt tgaggcagga
     2881 ggtgtcagcc acaaaccaaa aaatacacag atggaccatg aagagggcca ggccatgtta
     2941 aagcatttac acatgtgcct gagtattttc taatacacct tccagtgatt tggagttgtt
     3001 gcattttgac tatgttgtat atcatacgta tttctaaaat accaagctgt ttctccccta
     3061 cctagacaaa tctattcatg gttcccatct tgaagatgtc agtaccatgc agttataata
     3121 cacaaggtgc atttattgga aactttgtat aatatgtaca ggtttttaac ctctgaacta
     3181 tacatagggg gttattaaaa agattttcta taagtcttct aaggaacagt ataacctgta
     3241 aggaatgtga aggtagttct tttttagtat ttggaaataa gatacatctt tgtgcctttg
     3301 atattccatt ttttaaccca ctgtgatggg tgatcaacct agaaacatta tcttgagtac
     3361 ctactaggta ccaggtacta tattatgttc tgaggagtat agagaattta atgatatgat
     3421 ggctggcccc cacatagttt aaattttagt aaatagcttt tgaagcaaat tttacatatg
     3481 atatagtaga aggctgatcc tggtcgtatc ataccatctt cctatctatg taactttggg
     3541 aaactctcgc aactcctctg agcctctgct tccctatgtg taaaacaggg atagtaaatg
     3601 ccttcctcag gacccttaat aggagaattc attgcagtaa tgtaagtaaa gcacctcaca
     3661 ttaatgcttt gctcatggta agtactcaaa tttaactctg atttcctccg tcaccattct
     3721 taaaagatat tgagatagtt taattaacta gatgaattca tttcccacaa cccttttcaa
     3781 tcatcaattc ctagatattt ttctcatcca ttgttctgac acaatgcctg atacagcagc
     3841 actgaaaaat gccacacaat gaaaaatggc aatagtacaa ggaaaagggg tgcttttctt
     3901 tgggcagctc gctcgtcctt catgggacat cttactttcc atttttctac ctattggttc
     3961 tgctgttcac tggctgtgtg atcttgggca agatagtaat ctaatatctc agagcctagg
     4021 ttgagtatct ataaaatgaa aatcaaatct ctatctcagt aggtgttgca aggattcagt
     4081 gagataatat acataatgca cttaacaagg cgtttggacc atagcattga agaaatggaa
     4141 actattaaca gcccatttcc cattggcaga cagaagtagt caggtgagta aattttcacc
     4201 atctatgtgt gactagaagg cggcaaattt ctgaatcaca tgagtctcca aaagatagcc
     4261 agaaagttaa attctattaa tcctccttta aaaataaaat ttcagtaaac attccttttt
     4321 ctttggcttt gaagaagcct tagggaatat ttgtcatttt ggagacttgg cagaataaca
     4381 tgaggggatt gtagggaatc aataaaaact aaacaacaaa atcagagtca gagaacattt
     4441 tcaaaaggaa gaataggagg tttgatccca gcatgataaa cagagcgaat ttggcctgga
     4501 agcacttttg attatactat agctcattta ccatcccaga gtttggcaca gctgaaattt
     4561 taagttggaa tgaatattca ctgggcccaa aatgacagtt catatttgaa taaaagtgac
     4621 aaaagccttt ttataagtaa tcacttttaa gtgaaatgtt ttaactgatt tcatgtgatt
     4681 tagaatatga tttaatcaaa ttattttaat gatagatgga atggcagaca aaaacatgcc
     4741 tgtccttcta gactgatttt actttaccct ctaatattca tctcagtagc agtgttttaa
     4801 atattctctg ggctgcaaaa ctctttggga atctgataaa agctatgaac actccctgtg
     4861 tcccgcttct acccccaaaa ttcatgtgca cacacacaat tctgcaagta tcttcaaagg
     4921 gttcacagac ctcccaaagg ccatgcttgg gccccagatt aagaactcct ttctccatag
     4981 caagttttaa acatttctta ccagcttaca tttttagatc tggctgatca gaatcaaagg
     5041 ctctgtgtaa tacataaagt taccaagtga actggaattg gaacatcacc ctccccagcc
     5101 tgctaggtga tttacttaac acatagagta ataaaatcat cgctgttgct ttagatcacg
     5161 gattattttg ctaataatgc taaggatgaa gctgtgatct tattatcacc tgaatcggga
     5221 ggtgtggaca ctttaagcag ttccactttc cttctaattc cccatcccca tgcctttgct
     5281 aaagctgtcc cttttgctct aacacccttc ctggaccttc ctaccctagc tgggctaagt
     5341 gtttctcctc agcgttccca cttgtttcaa acatagcact taccacttgt actaaaatta
     5401 cttgccttct taattagata tgaacaaccc tccccaactc cagtatgggc cttctgtcaa
     5461 taataatacg atatgacagc taccatttat taagggcctc ctgtatgaaa gaccttaggc
     5521 taagcatgtt ttaaatgtta tttaatcttc acaatctctg aaaaaaatga agaaatcaac
     5581 gtgcttttct tactacctct acccctaagc cattattact tttttttttt tttgagacag
     5641 agttttgctc ttgttgccca ggctgcagtg cagtggtgca atcttggctc actgcaacct
     5701 ctgcctcttg ggttcaagcg attgtcatgc cttagccttc caagtagctg ggattacagg
     5761 tgtgtgccac tacacctggc taagtagaga tggggtttcg ccatgttggc caggctggtc
     5821 ttgaactcct gacctcaagt gatccacctg cctccgcctc ccaaagtgct gggattacag
     5881 gcatgaacca ctgcacctgg cctgttacct ctttcctaca attttgctca agtctcccaa
     5941 ctggtcttct ggattcctct cttctgcggt cctgttcaaa gcttaagtca gacagtgtca
     6001 cttcactcgt ctgtttaaaa cctttcaatg gcccccattt cacgtagacc aaagtccaac
     6061 gtatttacct ggcctactga tcttgctcct agctacctct gacctcatct cctgtcaatt
     6121 tccctctcat tctgttccac catcctgact gccttgactt cctcaacaga acaagcctgc
     6181 tcctgcctca gggcctctgt ccttattctt cctcttccca ggggtgtgct ggtaaaatat
     6241 ttaacaaata gttctccggg acgggggaga aaaccctcat ttgtagcatt tgcaggtatc
     6301 tatgtgtaaa tactctcatc aaggctattt ttgagccact aatttgcctt cactgaatac
     6361 agagtttggg aagagatgca tgccatcaga acaaatgcaa gccagcacca gcacaccact
     6421 gcctcttcct gcaactcttg tccatacaca acctcatggc tggctggctc acttcctgca
     6481 ggtctctcct caaatatcat ctgatgagag acacattccc tgactatgct ttctaaaata
     6541 ggccatatgc ccccacattc ataccccatc tgctgtcatt ctttattctt tttataagtg
     6601 cattattttc atagcactta tcactacctg ttgtatatta atcaatgatc ttttcccatt
     6661 agaatgtaag tttcatgaac aggtacttgt tttaatactg tatctccagt cctaatgtgt
     6721 aacaggagcc caataaatgt ttgctttcaa atggagaggt taagtaacct gctcaaatca
     6781 cacagctatt aagtggcaga acaggttttc aagcaatgca tctggtggtt ttaactaagt
     6841 cgagatagtt tttattccta atgcctaaat cagggcctag gtagtgagct gtgggcacat
     6901 attaagtatt ggttaaacta aaaataataa gcaaaatgga cattatctat aaaagctttt
     6961 gtggaaatgg ctagagctag ggtaaggaaa caaatttggt tccccatacc tgccctccaa
     7021 gaaaataaag ctgtcaagga aaatctgggc taagagtagg atatgaggga tgatggataa
     7081 ggcatgagac atgagaaata agggggatta aattattatt actattatac aaatgatgcc
     7141 tgagtagatt tttaaaatga ttaaataccc aatgatgtaa aaaacattta taaaatagga
     7201 aagtaagact gactcaacca taatttgttg agtcaaccca aaaatctatt tggttatttt
     7261 caaacagaaa tagcctacag atgatatctg agattgttcc aaactttttc tatgaatatg
     7321 tatacttttt ttacataatt aacataatac tgtatattaa tttgttacct gctttttcaa
     7381 ttaacaatat atcataagca tctatgccaa taaacacaat tctgcata
//
LOCUS       NM_001034832            1278 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens SSX family member 4B (SSX4B), transcript variant 1,
            mRNA.
ACCESSION   NM_001034832
VERSION     NM_001034832.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1278)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1278)
  AUTHORS   Ayyoub M, Merlo A, Hesdorffer CS, Rimoldi D, Speiser D, Cerottini
            JC, Chen YT, Old LJ, Stevanovic S and Valmori D.
  TITLE     CD4+ T cell responses to SSX-4 in melanoma patients
  JOURNAL   J Immunol 174 (8), 5092-5099 (2005)
   PUBMED   15814740
REFERENCE   3  (bases 1 to 1278)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer
            M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL,
            Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME,
            Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R,
            Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson
            A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler
            DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S,
            Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker
            GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O,
            Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman
            AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P,
            Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel
            L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z,
            Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S,
            Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS,
            Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O,
            Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H,
            Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T,
            Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis
            F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner
            G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R,
            Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S,
            Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume
            J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de
            Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis
            P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK,
            Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM,
            Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J,
            Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl
            P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S,
            Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN,
            Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S,
            Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey
            Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG,
            Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD,
            Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann
            RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K,
            Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M,
            Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry
            GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey
            DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L,
            Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S,
            Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A,
            Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM,
            Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R,
            Hubbard T, Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   4  (bases 1 to 1278)
  AUTHORS   Gure AO, Wei IJ, Old LJ and Chen YT.
  TITLE     The SSX gene family: characterization of 9 complete genes
  JOURNAL   Int J Cancer 101 (5), 448-453 (2002)
   PUBMED   12216073
REFERENCE   5  (bases 1 to 1278)
  AUTHORS   Wistow G, Bernstein SL, Ray S, Wyatt MK, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of adult human iris for the NEIBank
            Project: steroid-response factors and similarities with retinal
            pigment epithelium
  JOURNAL   Mol Vis 8, 185-195 (2002)
   PUBMED   12107412
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1278)
  AUTHORS   Chen CH, Chen GJ, Lee HS, Huang GT, Yang PM, Tsai LJ, Chen DS and
            Sheu JC.
  TITLE     Expressions of cancer-testis antigens in human hepatocellular
            carcinomas
  JOURNAL   Cancer Lett 164 (2), 189-195 (2001)
   PUBMED   11179834
REFERENCE   7  (bases 1 to 1278)
  AUTHORS   dos Santos NR, de Bruijn DR and van Kessel AG.
  TITLE     Molecular mechanisms underlying human synovial sarcoma development
  JOURNAL   Genes Chromosomes Cancer 30 (1), 1-14 (2001)
   PUBMED   11107170
  REMARK    Review article
REFERENCE   8  (bases 1 to 1278)
  AUTHORS   Skytting,B., Nilsson,G., Brodin,B., Xie,Y., Lundeberg,J., Uhlen,M.
            and Larsson,O.
  TITLE     A novel fusion gene, SYT-SSX4, in synovial sarcoma
  JOURNAL   J Natl Cancer Inst 91 (11), 974-975 (1999)
   PUBMED   10359553
REFERENCE   9  (bases 1 to 1278)
  AUTHORS   Gure AO, Tureci O, Sahin U, Tsang S, Scanlan MJ, Jager E, Knuth A,
            Pfreundschuh M, Old LJ and Chen YT.
  TITLE     SSX: a multigene family with several members transcribed in normal
            testis and human cancer
  JOURNAL   Int J Cancer 72 (6), 965-971 (1997)
   PUBMED   9378559
REFERENCE   10  (bases 1 to 1278)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH,
            Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.35467.1,
            SRR9304719.396709.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000595235.6/ ENSP00000469394.1
            RefSeq Select criteria      :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL606490.15, AA312651.1,
            BE866727.1, BC137395.1 and CD671168.1.
            On Nov 20, 2020 this sequence version replaced NM_001034832.4.
            Summary: The product of this gene belongs to the family of highly
            homologous synovial sarcoma X (SSX) breakpoint proteins. These
            proteins may function as transcriptional repressors. They are also
            capable of eliciting spontaneously humoral and cellular immune
            responses in cancer patients, and are potentially useful targets in
            cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have
            been involved in the t(X;18) translocation characteristically found
            in all synovial sarcomas. This translocation results in the fusion
            of the synovial sarcoma translocation gene on chromosome 18 to one
            of the SSX genes on chromosome X. Chromosome Xp11 contains a
            segmental duplication resulting in two identical copies of synovial
            sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail
            orientation. This gene, SSX4B, represents the more centromeric
            copy. Two transcript variants encoding distinct isoforms have been
            identified for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1278
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..1278
                     /gene="SSX4B"
                     /gene_synonym="CT5.4"
                     /note="SSX family member 4B"
                     /db_xref="GeneID:548313"
                     /db_xref="HGNC:HGNC:16880"
     misc_feature    81..83
                     /gene="SSX4B"
                     /gene_synonym="CT5.4"
                     /note="upstream in-frame stop codon"
     CDS             120..686
                     /gene="SSX4B"
                     /gene_synonym="CT5.4"
                     /note="isoform a is encoded by transcript variant 1;
                     protein SSX4; cancer/testis antigen 5.4; synovial sarcoma,
                     X breakpoint 4B"
                     /codon_start=1
                     /product="protein SSX4 isoform a"
                     /protein_id="NP_001030004.1"
                     /db_xref="CCDS:CCDS35241.1"
                     /db_xref="GeneID:548313"
                     /db_xref="HGNC:HGNC:16880"
                     /translation="MNGDDAFARRPRDDAQISEKLRKAFDDIAKYFSKKEWEKMKSSEK
                     IVYVYMKLNYEVMTKLGFKVTLPPFMRSKRAADFHGNDFGNDRNHRNQVERPQMTFGSL
                     QRIFPKIMPKKPAEEENGLKEVPEASGPQNDGKQLCPPGNPSTLEKINKTSGPKRGKHA
                     WTHRLRERKQLVVYEEISDPEEDDE"
     misc_feature    465..620
                     /gene="SSX4B"
                     /gene_synonym="CT5.4"
                     /note="propagated from UniProtKB/Swiss-Prot (O60224.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1258..1263
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SSX4B"
                     /gene_synonym="CT5.4"
                     /note="hexamer: AATAAA"
     polyA_site      1278
                     /gene="SSX4B"
                     /gene_synonym="CT5.4"
                     /note="major polyA site"
ORIGIN
        1 gactctgatt ttcccgccga aagcgtcccc ttggattggc tactttaaat tcagagtacg
       61 cacacgccga tttgcccttt tgattcttcc acaatcaggg tgagactgct cccagtgcca
      121 tgaacggaga cgacgccttt gcaaggagac ccagggatga tgctcaaata tcagagaagt
      181 tacgaaaggc cttcgatgat attgccaaat acttctctaa gaaagagtgg gaaaagatga
      241 aatcctcgga gaaaatcgtc tatgtgtata tgaagctaaa ctatgaggtc atgactaaac
      301 taggtttcaa ggtcaccctc ccacctttca tgcgtagtaa acgggctgca gacttccacg
      361 ggaatgattt tggtaacgat cgaaaccaca ggaatcaggt tgaacgtcct cagatgactt
      421 tcggcagcct ccagagaatc ttcccgaaga tcatgcccaa gaagccagca gaggaagaaa
      481 atggtttgaa ggaagtgcca gaggcatctg gcccacaaaa tgatgggaaa cagctgtgcc
      541 ccccgggaaa tccaagtacc ttggagaaga ttaacaagac atctggaccc aaaaggggga
      601 aacatgcctg gacccacaga ctgcgtgaga gaaagcagct ggtggtttat gaagagatca
      661 gcgaccctga ggaagatgac gagtaactcc cctcggggat atgacacatg cccatgatga
      721 gaagcagaac gtggtgacct ttcacgaaca tgggcatggc tgcggacccc tcgtcatcag
      781 gtgcatagca agtgaaagca agtgttcaca acagtgaaaa gttgagcgtc atttttctta
      841 gtgtgccaag agttcgatgt tggcgtttcc gctgtatttt cttgcagtgt gccattctgt
      901 tagacattag cgttttcgtt gatgagcaag acatgcttaa tgcatatttc ggcttgtgta
      961 tccatgcacc tacctcagaa aacaagtatt gtcaggtatt ctctccatag aacagcacta
     1021 ccctcctctc tccccagatg tgactactga ggggaggtct gagtgtttaa tttccgattt
     1081 tttcctctgc atttacacac acaccacaca cgcacacaca cacaccaagt accagtataa
     1141 gcatctccca tctgcttttc tccattgcca tgcgacctgg tcaagccccc ctcactctgt
     1201 ttcctgttca gcatgtactc ccctcatccg attccgttgt atcagtcact gacagttaat
     1261 aaacctttgc aaacgttc
//
LOCUS       NM_001034841            7666 bp    mRNA    linear   PRI 08-JUL-2023
DEFINITION  Homo sapiens ITPRIP like 2 (ITPRIPL2), transcript variant 1, mRNA.
ACCESSION   NM_001034841
VERSION     NM_001034841.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7666)
  AUTHORS   Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu
            C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J and Stanton
            LW.
  TITLE     Transcriptome characterization elucidates signaling networks that
            control human ES cell growth and differentiation
  JOURNAL   Nat Biotechnol 22 (6), 707-716 (2004)
   PUBMED   15146197
REFERENCE   2  (bases 1 to 7666)
  AUTHORS   Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R,
            Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine
            M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J,
            Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K,
            Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T,
            Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi
            T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato
            K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H,
            Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S,
            Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta
            T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO,
            Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N,
            Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y,
            Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H,
            Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A,
            Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T,
            Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai
            A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H,
            Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M,
            Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y,
            Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K,
            Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M,
            Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano
            J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T,
            Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T,
            Nakamura Y, Ohara O, Isogai T and Sugano S.
  TITLE     Complete sequencing and characterization of 21,243 full-length human
            cDNAs
  JOURNAL   Nat Genet 36 (1), 40-45 (2004)
   PUBMED   14702039
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AK097274.1, BC101751.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000381440.5/ ENSP00000370849.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC099518.3.
            On Jun 12, 2020 this sequence version replaced NM_001034841.3.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the functional protein.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7666
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.3"
     gene            1..7666
                     /gene="ITPRIPL2"
                     /gene_synonym="D1C"
                     /note="ITPRIP like 2"
                     /db_xref="GeneID:162073"
                     /db_xref="HGNC:HGNC:27257"
     misc_feature    163..165
                     /gene="ITPRIPL2"
                     /gene_synonym="D1C"
                     /note="upstream in-frame stop codon"
     CDS             499..2106
                     /gene="ITPRIPL2"
                     /gene_synonym="D1C"
                     /note="inositol 1,4,5-triphosphate receptor-interacting
                     protein-like 2; inositol 1,4,5-trisphosphate receptor
                     interacting protein like 2; DANGER family member 1C"
                     /codon_start=1
                     /product="inositol 1,4,5-trisphosphate receptor-interacting
                     protein-like 2 precursor"
                     /protein_id="NP_001030013.1"
                     /db_xref="CCDS:CCDS32395.1"
                     /db_xref="GeneID:162073"
                     /db_xref="HGNC:HGNC:27257"
                     /translation="MSVHYTLNLRVFWPLVTGLCTALVCLYHVLRGSGGARAEPADGVD
                     GGFPLLKVAVLLLLSYVLLRCRHAVRQRFLPGSPRLEGHAAFSSRHFREPGLSILLESY
                     YEHEVRLSPHVLGHSKAHVSRIVGELVRAGRARGSPGLIPGGALALAFRGDFIQVGSAY
                     EQHKIRRPDSFDVLVPLRLPPLVALEPRSLGEEPALAPAFRGCFLCALKAPPSPSGASG
                     GHWLRDCKPFADAFCVDVRGRRHLSATLVLRWFQSHLQRSLATVRYSLEGRCRVTLTPG
                     GLEQPPTLHILPCRTDYGCCRLSMAVRLIPAVHLGDGVFLVAPPPPPLPSAPLLELPEG
                     LRAEALWGVNTARQEQKLLSWLQERAAPGACYLKCLQLLKALRDLGARGLDSAAATQWG
                     RILSSYVLKTVLLAVLLRKGAPGQGWDEEHLGRCLEELVQFLRDCLLRRHTLFHCVLGP
                     GGAAAEVGPLPKALREAAPVDLLAAFDGHARELAAARLLSTWQRLPQLLRAYGGPRYLA
                     RCPPPRSQRTQGFLEGEP"
     sig_peptide     499..612
                     /gene="ITPRIPL2"
                     /gene_synonym="D1C"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q3MIP1.1)"
     misc_feature    628..690
                     /gene="ITPRIPL2"
                     /gene_synonym="D1C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3MIP1.1);
                     transmembrane region"
     misc_feature    913..915
                     /gene="ITPRIPL2"
                     /gene_synonym="D1C"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q3MIP1.1); phosphorylation site"
     regulatory      7647..7652
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITPRIPL2"
                     /gene_synonym="D1C"
                     /note="hexamer: AATAAA"
     polyA_site      7666
                     /gene="ITPRIPL2"
                     /gene_synonym="D1C"
                     /note="major polyA site"
ORIGIN
        1 gacccggctc gccagctcca cgctcggctc cagactccgg catttcctcc ccgctagctg
       61 gcgcggcctc gcctccccct cggaagagga aactcccggg gtccgagtaa cagggtcagg
      121 cgcggagagg agcggcggga gagccaggag ggccgcccag ggtaggaggc gagccaggcc
      181 gggccagaag ctggccgacg gcggcgcgcg ggggcgccgg gcggggaggg ccgctgggcc
      241 ggactcagcg cgcagccggg gcagggcgcg gcccggggcc cgagagcgca gggcgggccg
      301 cagctggaag gaacacttga gctgggagag gaggccgagc tggagggcgg cctccctcgg
      361 gcctgcgttc gggaagccgc cgcggaggag gagacgggga cagcggggct gcccgggcgc
      421 tgtgcgcatg ctgggcttgg gtcgccgccg gggcttgccc cctgggctgc tcggccaccg
      481 ccgccccggg cgcccggcat gtcggtgcac tacaccctca atctacgcgt cttctggccc
      541 ctggtgaccg gcctgtgcac cgccctggtg tgcctctacc atgtcctgcg gggaagcggg
      601 ggcgcccggg ccgagcccgc cgacggcgtg gatggcggct tcccgttgct taaggtggcc
      661 gtcctgctcc tcctcagcta tgtcctcctg cgctgtcgcc acgctgtccg gcagcgcttc
      721 ctgcccgggt ctccccgtct ggagggtcac gccgccttct cctcgagaca cttccgagag
      781 ccgggcctca gcatcctgct ggagagttac tacgagcatg aggtgcgcct gtctccgcac
      841 gtgttgggcc acagcaaggc gcacgtgagc cggatcgtgg gcgagctggt gcgggctggc
      901 cgcgcccggg ggtcccccgg tctcattcct gggggagcgc tggccttggc cttccgcgga
      961 gacttcatcc aggtgggcag cgcctacgag caacataaaa tccgccggcc cgacagcttc
     1021 gacgtgctgg tgccactgcg cctcccgccg cttgtggcgc tggagccacg gagcctgggc
     1081 gaggagccag cgctggcccc ggccttccgc ggctgcttct tgtgcgccct caaggcacca
     1141 ccctcaccat cgggggcctc ggggggccac tggcttcggg actgcaaacc ctttgctgat
     1201 gccttctgcg tggatgtgcg cgggcggcgt cacctctctg ctactctggt gctgcgctgg
     1261 ttccagtcgc atctgcagcg ctccttggcc actgtgcgtt acagcctgga ggggcgctgt
     1321 cgggtcacct tgaccccagg tggcctggaa cagcccccca ccttacacat cttgccctgc
     1381 cgcactgact acggctgctg ccgcctttct atggctgtgc gtctcatccc cgctgtccat
     1441 ctgggagatg gggtcttcct tgtggcgcca ccaccgccac ccttgcccag cgcgcccctg
     1501 ttggagctcc ctgagggcct gcgtgcggag gcactgtggg gtgtgaacac agcacgccag
     1561 gagcagaagc tgctgagttg gctgcaggaa cgggcagctc caggtgcctg ctacctcaag
     1621 tgcctgcagt tgcttaaggc tctgcgcgat ctgggggccc gtgggctgga ctcagcggcc
     1681 gccacccagt ggggacgcat cctatcctca tatgtgctca agacagtgct gctggcagtg
     1741 ctgctgcgca agggggcccc tgggcaaggc tgggacgagg agcacctggg aaggtgtttg
     1801 gaggagttgg tgcagttcct tagggactgc ctgctgcgac gccatacgct cttccactgc
     1861 gtcctgggcc ctggtggggc ggctgccgag gtgggtcccc tgcccaaggc actgagggaa
     1921 gccgccccag ttgacctcct ggccgctttc gacgggcacg cccgggaact tgcagcagcg
     1981 cggttgctgt ccacgtggca aaggctgccc cagcttctcc gggcctacgg gggtccccgc
     2041 taccttgcca ggtgcccccc accccggagt cagcgcaccc agggcttcct tgaaggtgaa
     2101 ccgtaaaccc tgacagcacc cccacctgac caaatgctcc taaagccttt cccactgggt
     2161 gggggtggga atggcggtga agccagttaa atgcaagatt gcagaaggca ttggaaaatt
     2221 tggtggctgc cacaagcttt agtggcttaa atatcacctt ctcgcttcac agtccagtat
     2281 aatatgacat cttcacaccc actagagtgt cctgggcaaa ccatgggaag acatccaaca
     2341 ggagacccaa gaattggttc aaatattgtt ctgtgtagac ggattctgta gaaggatgtg
     2401 gcttttagag aagtccagta gaagaagcaa gaactagctg cagggaaagt tccttctgtc
     2461 ggtttttaga cacagatctc tctgcccaaa ttaaaaaaaa acaaaacaaa acactaaagt
     2521 ttttgacaca attacttgct aggtactggg ttcctgattg tctttaaaaa gaaaaatctg
     2581 aatctttatt tgcaactgga attgaagttc tattttaggg gctaatgttt agaggaacat
     2641 aatttccact gttcaaatta atattaatgt atttttaaaa tggtgcaatc acaggtgttt
     2701 gacaagattg tcaacaagtt aagtcacata gatggaaagg caatcgagag ttggttagag
     2761 aagcttccag agaaaatagc actttatatt gatcaattca ctcattttgt ggtaattgct
     2821 agcaccaagc attgcatctg aaagggaagc cagttatatt tattattaaa tgtacaacct
     2881 tgaaaagcag ccagcatgct tgcctaacta acatcgccgc aggccacaag ctgggatatg
     2941 tacctgtccg tcaacatcca ttcattaaac tacctactac cagccagaga tgtctggaac
     3001 caaagtagca accaaataca tattcaagac aacactggtg aaggcataaa acatgttggc
     3061 tttggagaaa gatgtgtttt aggctttgcc tgtaaaggtg tttctccaag gctggctgct
     3121 ggctggagac agaaaacttt tttgttttaa ggtttttagc aaactccttc acaaagagat
     3181 ttctttctga gcttaatgag ctaatgaaga ggaaatgcct gctgcttagc atgtggtttg
     3241 tgctgggtct ctaaccattg atggttcttc cttgtccagg cagtcttacg tggtccaaga
     3301 gacctgttga ttcagcacag gtcttgcaaa acatttcact tatagttcag tatcttgggc
     3361 tctgtgcttg aagatcagtt actccctggt cgtgggcaga ggagacaaat taggaaaaga
     3421 gcaagggaga cagcccttga cggcagtctg tctcttttct ctttaggtgt cagtatcacc
     3481 aggttgggtg tattttgcag ctgggaggag ccggtcctgg aattcttcct tgttctccca
     3541 aatttataac agtcctcaat tgcagtttaa gttcagcatg gcccctcatc tgcttgcctg
     3601 attggaaatg cagccagtcc aagtgttaca aattgggatt tttttgtttt ctaaataaaa
     3661 acatgtactt cctcagactc ttaaagctaa aatttggaag acagaaatgc ctatgtgaat
     3721 agaatcattg ttgaagttct gagctctttt gagggaactc tataagcctt ctttctttag
     3781 gggatccact tgcctgctgt gggaaatcat agtgagtgat ttacaggaat ccttctcctc
     3841 caagctgcat tggcttctta tatcctttgc gaccttgggc tgaaagagaa acagctgcaa
     3901 atgttgtgct gtctctttga ggttgtcttg gggacagttc cccgcaaagg tcattcctag
     3961 cttttgaggt caatgttggg tcataaggta ctgcattgtg caaagaagtc agtctgctaa
     4021 ctttatgcaa agatagaaac tgcacggtat tttttaaaat tagtttttaa aataaatgcc
     4081 aagagtagat cttatatata tatatatgta tacatatttt atatatatat atatttccat
     4141 actcaaccac aacttcctct gtactcattg tttactacag tgggggacat caagggttgg
     4201 aaggattata aagctttaag gctgggcgtg gtggctcacg cctgtaatcc cagcactttg
     4261 ggaggcgagg tgggcggatc acctgaggtc aggagttcaa gaccagccta gccaacatag
     4321 tgaaactctg tctctactaa aaaatacaaa aattagctgg gcgtggtggc gggcgcctgt
     4381 aatcccagat actcgggagg ctaaggcagg agaatcactt gaacccggga ggtgaaggtt
     4441 gcagagagcc aagatcacac cactgcactc cagcctgggt gaccgagcga gactccgtct
     4501 caaaaaaaaa aaaaaaaagc tttaaaaagc tgaattttag aaatatttct agcagtgtca
     4561 gtgagttcct cttttaatag tgttttaaag tataaatctg gtaacatact gttcttgtag
     4621 ttttttgtta gttttgtttt tcaggttaat tacccaaagc ctcatccatc ctcaaggttt
     4681 ttaaatttta tttttttaaa ataaattgtg cattgtattt gtgaattttt aaaatattac
     4741 tgttttattt aaatgccatg ctgagcaatt gttctctgta catggtaacc aaaacttaga
     4801 gatttcgatc aattttgatc aatgtttagt aaaccaaaac atgtactgtg tacaacggaa
     4861 ataatatggc atattagcca ggcatgatgg ttgcccaaga cagttaaatt aagctcaatt
     4921 ctgtatttta ttagggctct gttatgtcct tcatctgaaa tgtacacatt tttggtgtat
     4981 gcttggtact ggagattcat atatgcaaat attctcatgc aagaagttcc acagtaacaa
     5041 cagcaaaaag aaaaaattag ttgtccagcc agtgctggag gaaaatgttt ctggggaaga
     5101 tgactcagtc attttgtggc gagacaccct ttggtaactc ccactgacca gtcttgggag
     5161 ccttcctgga atgatcgtgg gctgagcgga gatgtttttt gcaaaatgaa actgaagctg
     5221 aaagaaagga gaattcgagt gaaccaagag aaatccaaag acctggggaa ggaggactta
     5281 agatgaaagt gaagcaagag agggaagggg aaatgaagtg aaaatggcgt gagggtgtga
     5341 gagaggtttg ggttaggaaa catgttttta gtgctatttc caaccagggg tcgcaaactc
     5401 agcagcctgt agaaacaggg gtgggaggtg ggggggaagc tgtgcccacc tttaaagagg
     5461 gggccattgc tcagccatgc agaaaaaaat ggggcaacaa gctggaaatc aggttttttt
     5521 tttttaaagt gaaacttgat gatttttaaa caagtaatta aaaaaatgtc caaaacacca
     5581 tgtgggccaa acatttgttt gagcctgggg gccaccagtt tgcgaccact gccttacgta
     5641 gttaacaccc tgagtatgta tacagtcata ttttttgttt tggatatggt agtgttatat
     5701 atacttgggg gcgtgatatt tgaagtcatc tttatctctc agagttaagc tttattgtag
     5761 aagaaaaaaa aaaaagttaa cacagccata gataacactt aactcacagt tcccaggagg
     5821 acacttgatc tcgaagctgc tctttttgag tcagatccta catcaaacca cttagggcca
     5881 gtttttggca tttccttcct ggtgatttgg ggtaaacttc tttgctctgt cggagtttgc
     5941 agatgagtaa tcagaaggat tgcagaataa cttgtttctt tgtattttat tcttacattt
     6001 aaattaattt tggggggtta gtggtatcct agctcgtgcc tttacaggga tgattggtgg
     6061 ctagatttgg ggtgcaagct tcttaggctc ataccatttc aactaccaag aacacaggtt
     6121 tttgtttttg ttttttgaga cagggtctca gtctgttgcc caggctggag tgcagtggca
     6181 agattgcagc tcattgcagc cttgacctcc tgggctcaag cgatcctcct gcctcggcct
     6241 cccaactagc tgggaccaca ggtatgtgcc actacaccca gcgaattttt aaattatttg
     6301 tagagtcagg gtctccctat gttgcccagg ctggtcttga actactggac tcaagccatc
     6361 ctcccacctc ggcctcccaa agtgttggga ttataggcgc gagccaccac acctggccta
     6421 aaagcgtcgt tctgatcaga cttcacccct gaatgtttct atcattttct tttctttttt
     6481 tttttttttc gagacagagt tttgctcttg ttttacaggc tggggtgcgg tgggatgatc
     6541 ttggctcact gcaatctcct cctcccaggt tcaagtgatt cttgggcctt agcctcccga
     6601 gtagctggga ttacaggcac ctgccaccac gcctggctaa tatatatata tatatatata
     6661 tatttttttt tttttttttt agtagagatg gggtttcatc atgttggcca ggctggtctc
     6721 gaactcctga cctcaggtga tctacctgcc tcggcctccc aaagtgcagg gattacaggt
     6781 gtgagtgagc caccgcggcc ggcctctatc attttctgac tcagcagctc caccaaaatt
     6841 gacatcctag caaacactgt gaaggaatta acctaagtgc ttccagagca tctcatgtaa
     6901 cctctatgga gtaagtcact ttttctgtaa catgtggctt ttgaccttga tgaagacttt
     6961 gacttctcat ccctgtctac atggaggaag atgattcagt ggtggggaaa atgaacctcg
     7021 gtaacatttc caatgtcctt caagagggaa acaagttcag tgttatcatc gtggcattcg
     7081 ttagtttttt tttttttaaa tcacttgttt agatacaact ttattttttt atacctacat
     7141 agcacatgac tggggggata aagcatgtat aagttgggag agggtaaaga atgtgtgact
     7201 atgtatacag aaaatagact aaaatgtgca gcaaaatgat atatactgta atctggtttt
     7261 tgaagtatct actattctgg aatattgtta aacaactttt tgcttttgaa aaaaaaaggt
     7321 gccttgattc agttgcgtga cttagaacat tcatcctatt ttattgtgat ttttaatgtc
     7381 ttctgacccc aaactgtgtt tttggttgca gtctggcggc tgcaggcata gcgtcggttt
     7441 tgttccaata acagagacca aagagttaat cagatatggt tcagctgcta caattgtatg
     7501 attcaaaggc aatttaatca ccccaaattt ccatggcccc cacagtcaag acctgccatt
     7561 cgttttctct tgcaggttgg agtaaatttg cactttgaat catgtgggtc atttggggac
     7621 cttgttcttt tctattttgc tttattaata aaggaacttg tagaaa
//
LOCUS       NM_001034845            4021 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens polypeptide N-acetylgalactosaminyltransferase like 6
            (GALNTL6), mRNA.
ACCESSION   NM_001034845
VERSION     NM_001034845.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4021)
  AUTHORS   Diaz Ramirez J, Alvarez-Herms J, Castaneda-Babarro A, Larruskain J,
            Ramirez de la Piscina X, Borisov OV, Semenova EA, Kostryukova ES,
            Kulemin NA, Andryushchenko ON, Larin AK, Andryushchenko LB,
            Generozov EV, Ahmetov II and Odriozola A.
  TITLE     The GALNTL6 Gene rs558129 Polymorphism Is Associated With Power
            Performance
  JOURNAL   J Strength Cond Res 34 (11), 3031-3036 (2020)
   PUBMED   33105351
  REMARK    GeneRIF: The GALNTL6 Gene rs558129 Polymorphism Is Associated With
            Power Performance.
REFERENCE   2  (bases 1 to 4021)
  AUTHORS   Raman J, Guan Y, Perrine CL, Gerken TA and Tabak LA.
  TITLE     UDP-N-acetyl-alpha-D-galactosamine:polypeptide
            N-acetylgalactosaminyltransferases: completion of the family tree
  JOURNAL   Glycobiology 22 (6), 768-777 (2012)
   PUBMED   22186971
  REMARK    Erratum:[Glycobiology. 2015 Apr;25(4):465. PMID: 25715345]
REFERENCE   3  (bases 1 to 4021)
  AUTHORS   Peng C, Togayachi A, Kwon YD, Xie C, Wu G, Zou X, Sato T, Ito H,
            Tachibana K, Kubota T, Noce T, Narimatsu H and Zhang Y.
  TITLE     Identification of a novel human UDP-GalNAc transferase with unique
            catalytic activity and expression profile
  JOURNAL   Biochem Biophys Res Commun 402 (4), 680-686 (2010)
   PUBMED   20977886
  REMARK    GeneRIF: a novel member of the human ppGalNAc-T family,
            ppGalNAc-T20, which has high homology with human ppGalNAc-T10 was
            identified.
REFERENCE   4  (bases 1 to 4021)
  AUTHORS   Uhl GR, Liu QR, Drgon T, Johnson C, Walther D, Rose JE, David SP,
            Niaura R and Lerman C.
  TITLE     Molecular genetics of successful smoking cessation: convergent
            genome-wide association study results
  JOURNAL   Arch Gen Psychiatry 65 (6), 683-693 (2008)
   PUBMED   18519826
  REMARK    GeneRIF: Clinical trial and genome-wide association study of
            gene-disease association, gene-environment interaction, and
            pharmacogenomic / toxicogenomic. (HuGE Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC047551.1, SRR1660803.31102.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2154665,
            SAMN03465404 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000506823.6/ ENSP00000423313.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC025561.6, AJ626725.1, BX108658.1 and AC131952.1.
            On Nov 22, 2018 this sequence version replaced NM_001034845.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4021
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q34.1"
     gene            1..4021
                     /gene="GALNTL6"
                     /gene_synonym="GalNAc-T6L; GALNACT20; GALNT17"
                     /note="polypeptide N-acetylgalactosaminyltransferase like
                     6"
                     /db_xref="GeneID:442117"
                     /db_xref="HGNC:HGNC:33844"
                     /db_xref="MIM:615138"
     misc_feature    295..297
                     /gene="GALNTL6"
                     /gene_synonym="GalNAc-T6L; GALNACT20; GALNT17"
                     /note="upstream in-frame stop codon"
     CDS             757..2562
                     /gene="GALNTL6"
                     /gene_synonym="GalNAc-T6L; GALNACT20; GALNT17"
                     /EC_number="2.4.1.41"
                     /note="GalNAc transferase 17; UDP-GalNAc:polypeptide
                     N-acetylgalactosaminyltransferase 17; GaNTase 17;
                     UDP-N-acetyl-alpha-D-galactosamine:polypeptide
                     N-acetylgalactosaminyltransferase-like 6; polypeptide
                     GalNAc transferase-like 6;
                     UDP-N-acetyl-alpha-D-galactosamine:polypeptide
                     N-acetylgalactosaminyltransferase 20; galNAc-T17;
                     pp-GaNTase 17; polypeptide GalNAc transferase 17;
                     protein-UDP acetylgalactosaminyltransferase 17; putative
                     polypeptide N-acetylgalactosaminyltransferase 17"
                     /codon_start=1
                     /product="polypeptide
                     N-acetylgalactosaminyltransferase-like 6"
                     /protein_id="NP_001030017.2"
                     /db_xref="CCDS:CCDS34104.1"
                     /db_xref="GeneID:442117"
                     /db_xref="HGNC:HGNC:33844"
                     /db_xref="MIM:615138"
                     /translation="MKRKQKRFLQMTLLFTVALIFLPNVGLWSLYKDKHLVKSAEPGEQ
                     QTFPLGLGDGQFYSWTDGLRRKDWHDYESIQKEAMRSGKGEHGKPYPLTEEDHDDSAYR
                     ENGFNIFVSNNIALERSLPDIRHANCKHKMYLERLPNTSIIIPFHNEGWTSLLRTIHSI
                     INRTPGSLIAEIILVDDFSEREHLKDKLEEYMARFSKVRIVRTKKREGLIRTRLLGASM
                     ARGEVLTFLDSHCEVNVNWLPPLLNQIALNHKTIVCPMIDVIDHNHFGYEAQAGDAMRG
                     AFDWEMYYKRIPIPPELQRADPSDPFESPVMAGGLFAVDRKWFWELGGYDPGLEIWGGE
                     QYEISFKVWMCGGEMFDVPCSRVGHIYRKYVPYKVPSGTSLARNLKRVAETWMDEFAEY
                     IYQRRPEYRHLSTGDISAQKELRKQLKCKDFKWFMAAVAWDVPKYYPPVEPPPAAWGEI
                     RNVAANLCVDSKHGATGTELRLDICVKDGSERTWSHEQLFTFGWREDIRPGEPLHTRKF
                     CFDAISHNSPVTLYDCHGMKGNQLWGYRKDRTLFHPVSNSCMDCNPAEKKIFMARCDPL
                     SETQQWIFEHINMTVLEKFNHHANS"
     misc_feature    778..840
                     /gene="GALNTL6"
                     /gene_synonym="GalNAc-T6L; GALNACT20; GALNT17"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49A17.2);
                     transmembrane region"
     misc_feature    1171..1500
                     /gene="GALNTL6"
                     /gene_synonym="GalNAc-T6L; GALNACT20; GALNT17"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49A17.2);
                     Region: Catalytic subdomain A"
     misc_feature    1177..1179
                     /gene="GALNTL6"
                     /gene_synonym="GalNAc-T6L; GALNACT20; GALNT17"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q49A17.2); glycosylation site"
     misc_feature    1672..1860
                     /gene="GALNTL6"
                     /gene_synonym="GalNAc-T6L; GALNACT20; GALNT17"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49A17.2);
                     Region: Catalytic subdomain B"
     misc_feature    2518..2520
                     /gene="GALNTL6"
                     /gene_synonym="GalNAc-T6L; GALNACT20; GALNT17"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q49A17.2); glycosylation site"
     regulatory      3530..3535
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNTL6"
                     /gene_synonym="GalNAc-T6L; GALNACT20; GALNT17"
                     /note="hexamer: AATAAA"
     polyA_site      3561
                     /gene="GALNTL6"
                     /gene_synonym="GalNAc-T6L; GALNACT20; GALNT17"
     regulatory      4003..4008
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNTL6"
                     /gene_synonym="GalNAc-T6L; GALNACT20; GALNT17"
                     /note="hexamer: AATAAA"
     polyA_site      4021
                     /gene="GALNTL6"
                     /gene_synonym="GalNAc-T6L; GALNACT20; GALNT17"
                     /note="major polyA site"
ORIGIN
        1 gcagacacca gcgacgtctc cgcggaaggc aggcgccggg gagtggggcg cgggcgaccg
       61 tgtgcagccg cggcgcatct ccgccttccg ctcctcctcg cagcgccctc gtccgcttcc
      121 aagcccagca cagacttcgg tttctccgcc tccatcccct ttacgagaag aggagatcaa
      181 aaaatattgc cctttaggtg ctcgtgatgg tcctgtgggt tcgttcagtt gccagaaaag
      241 aatggtaaca tgaacagcgg agcgtgagag cgtcaccggg ggaagggacg agattgatgg
      301 gcagagcgct cacttctcag aggatcgcat tccgaggacc gcgcgaggaa gggacgtcgc
      361 ggcgccacca cttcctggct ggactccgct gacatctgta gcctcctttc caccaggttc
      421 ccggggctcc cagccgctgc ctgcagagga gcgtgtagac agcgcgcgag ggtccggcac
      481 ttcgtggacc tccatccgaa ccggagttct gcccggatcc cgagtccctg gatcccggtg
      541 gagcccgccg gcaagctggc tccggaggga gttgaacttg agttcagatg gccaactccc
      601 tctgaatcct gcagattggt gctgagcacg caacaaaagt ttgtagcttc tcagtttctg
      661 gtgcttcgca ggggagagga aaggaatttg acattaaaca caagaagcag tcagggagcc
      721 atctccttta acttttcttc tctgttacca tttgcaatga agaggaaaca gaagagattt
      781 ctgcagatga ctttgttgtt cacggtggct ttaattttcc tgcctaacgt tggtctctgg
      841 tctctgtaca aggataagca cctggtgaag tcagcggagc ccggggagca gcagacattt
      901 ccactgggcc tgggagatgg gcaattctat tcatggacag atggtttgag aagaaaggac
      961 tggcatgact atgaaagcat tcagaaagag gctatgcgct cagggaaagg tgaacatggg
     1021 aaaccttacc cccttactga agaggaccat gatgactcag cttacaggga aaatggtttt
     1081 aatattttcg tcagcaacaa tattgctcta gagaggtctc tgccagatat tcgtcatgct
     1141 aactgtaagc ataagatgta tctggaaagg ctgccaaaca ccagcatcat tatcccattt
     1201 cataatgaag gttggacttc actcctgcgg accatacaca gtataattaa ccgaacccca
     1261 gggagtctga tagcagaaat cattctagta gatgacttca gtgagagaga acacctgaag
     1321 gataaattgg aagaatacat ggcccgattt tccaaagtga ggattgttcg caccaagaaa
     1381 agagaaggac tcatccggac ccgtctcctg ggggcatcta tggccagagg agaagtcctg
     1441 acattcctgg actcccactg cgaggtcaat gtgaactggc tgcccccact cctcaaccaa
     1501 attgcactaa accacaaaac catcgtgtgt cccatgatcg atgtcattga ccacaatcac
     1561 ttcgggtatg aggcacaagc tggggatgcc atgcgaggag ccttcgactg ggaaatgtac
     1621 tacaaaagaa tccccatccc tccagagctc cagagggcag atcccagcga cccttttgag
     1681 tctcctgtta tggctggagg tctctttgct gtggatcgga aatggttttg ggaattgggt
     1741 ggctatgatc caggtttaga aatctgggga ggagaacagt atgaaatctc ttttaaggtt
     1801 tggatgtgtg gaggagaaat gtttgatgtt ccatgttcta gagttggtca tatctacagg
     1861 aagtacgttc catacaaagt tccatctggg acaagcctgg caagaaacct gaagcgggta
     1921 gctgagacct ggatggatga atttgccgag tacatttacc agcggcggcc ggagtacagg
     1981 catctctcca cgggggacat ctctgcccag aaggagctgc gcaagcagct caagtgcaag
     2041 gacttcaaat ggttcatggc tgctgtggcc tgggacgtgc ctaaatacta ccctccagtg
     2101 gagcccccgc ctgctgcctg gggggagatc cgaaatgtgg cagcaaatct ctgtgtggac
     2161 agcaagcatg gagccaccgg aacagagctg aggctggaca tctgtgtcaa ggatggttct
     2221 gaaagaacat ggtctcatga acagcttttt acctttggat ggagagaaga tattcgaccc
     2281 ggtgagccac tgcatacccg gaaattctgc tttgatgcga tctcacacaa cagccccgtt
     2341 acactctatg actgtcatgg catgaagggg aaccagctct ggggataccg gaaggacaga
     2401 acattattcc atcctgtgag caacagctgc atggattgca accccgcaga gaagaagatt
     2461 ttcatggcca gatgtgaccc tctctctgag actcagcagt ggatttttga acacattaat
     2521 atgactgttt tagaaaaatt taaccaccat gccaactcct agaaagaaga aaggaagaaa
     2581 gagtgattac ctacaggtta taaattaaat tttagccagc atctgggtcg aaggagtcag
     2641 gaataacatt tcctcgatcc aggaaggctg gtttaaaaat ttgcaaatgc catgtcaaag
     2701 taggttgttt tgaagaactt cctgcatctg aagaacttgg ctgagaatct caccagctgc
     2761 ttctgagaac tcgagactag cagttccctt gctggccaag ggcaaagata atttagggac
     2821 ttttcaaaac aactgctgag ctaataaatc ctagcatttc tcaggtcaaa tcctgcagta
     2881 gtgagtagct atgaatggat cctattaact gggtgggagg ggggtgaaaa tggagtgcat
     2941 gactgctctg acaacctgag gatatcacag gtttagaact agccaagctt aaggggtgag
     3001 ctgtactctt tggtgccatt ctctgactaa gaatgggttc agcaggttta acccttaaaa
     3061 gtgctgcaga tgatttcaga gtgctcacac tattctgttt tttttatttt tatttttaaa
     3121 tgagggtgca atatctaatg taagacttaa attacataat gaaatggaca tccagtgttc
     3181 ccattctttc gtttatattt gccatttttt tttcagagca aagtttcttt tttatgaaag
     3241 ttcatgctcc atgaatccac tgaatttcta attcagtgcc cttctatgaa tccagttaaa
     3301 aacaaaagca aaagcaaaaa tctatgctat caagttactc caaagaaaga tttcacagaa
     3361 gcagcaaaac catataagat ttaggagagg gacttccctg ggaaatctat ttttactttt
     3421 ctattatttt taaaatctta aaagtctgat atttgtccag tcataatttt tattaagcaa
     3481 ggaaatggag tgagtttgat gtaatttgtt taggagattc ttaaacccaa ataaatctac
     3541 actccaagtg atatgtgaaa atggcttagt tcacttcaat tctgtttagt cagtggtggg
     3601 agcttagaag tggttttatt tgttcgtttg tttgggtttt gcttttgttt tttatttttt
     3661 tcttgttttt tttttgtagt gttgaattaa tgatgttctt ttatttggaa gctcataaaa
     3721 ggaattacca ttaataaagt gtttctgaca ccattttctg ttaatgggac aatatttcgg
     3781 ggatgaagaa aggaatgctc cgaaaactaa atggaacact taatccttaa agcaattttt
     3841 tactgttcaa taatatcaca ttgggggaag aaaacacagg tatcaaggtg gttcttggga
     3901 aaaaagaatc atgtttatta tatatctctc aagttttttt ggtataaaaa tgttttaact
     3961 ttgctttctt tttggttttt gtttgaagtt ggttttcctg ttaataaaaa tttatataac
     4021 a
//
LOCUS       NM_001034850            3208 bp    mRNA    linear   PRI 22-SEP-2023
DEFINITION  Homo sapiens reticulophagy regulator 1 (RETREG1), transcript variant
            1, mRNA.
ACCESSION   NM_001034850
VERSION     NM_001034850.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3208)
  AUTHORS   Cakar A, Bagirova G, Durmus H, Uyguner O and Parman Y.
  TITLE     Phenotypic features of RETREG1-related hereditary sensory autonomic
            neuropathy
  JOURNAL   J Peripher Nerv Syst 28 (3), 351-358 (2023)
   PUBMED   37448294
  REMARK    GeneRIF: Phenotypic features of RETREG1-related hereditary sensory
            autonomic neuropathy.
REFERENCE   2  (bases 1 to 3208)
  AUTHORS   Xie B, Xie Y, Fang C, Zhong B, Ye R, Zhang J, Liu Q and Li H.
  TITLE     Elevated FAM134B expression induces radiation-sensitive in
            hepatocellular carcinoma
  JOURNAL   BMC Cancer 23 (1), 671 (2023)
   PUBMED   37460952
  REMARK    GeneRIF: Elevated FAM134B expression induces radiation-sensitive in
            hepatocellular carcinoma. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3208)
  AUTHORS   Kanamori A, Hinaga S, Hirata Y, Amaya F and Oh-Hashi K.
  TITLE     Molecular characterization of wild-type and HSAN2B-linked FAM134B
  JOURNAL   Mol Biol Rep 50 (7), 6005-6017 (2023)
   PUBMED   37273064
  REMARK    GeneRIF: Molecular characterization of wild-type and HSAN2B-linked
            FAM134B.
REFERENCE   4  (bases 1 to 3208)
  AUTHORS   Kasem K, Gopalan V, Salajegheh A, Lu CT, Smith RA and Lam AK.
  TITLE     JK1 (FAM134B) gene and colorectal cancer: a pilot study on the gene
            copy number alterations and correlations with clinicopathological
            parameters
  JOURNAL   Exp Mol Pathol 97 (1), 31-36 (2014)
   PUBMED   24825067
  REMARK    GeneRIF: The changes in JK1 DNA copy number associated with
            progression of colorectal neoplasms.A decrease in JK-1 copy number
            was correlated with a shorter disease-free survival time.
REFERENCE   5  (bases 1 to 3208)
  AUTHORS   Ilgaz Aydinlar E, Rolfs A, Serteser M and Parman Y.
  TITLE     Mutation in FAM134B causing hereditary sensory neuropathy with
            spasticity in a Turkish family
  JOURNAL   Muscle Nerve 49 (5), 774-775 (2014)
   PUBMED   24327336
  REMARK    GeneRIF: Homozygous FAM134B mutation was found in Turkish siblings
            with hereditary sensory neuropathy type 2.
REFERENCE   6  (bases 1 to 3208)
  AUTHORS   Murphy,S.M., Davidson,G.L., Brandner,S., Houlden,H. and Reilly,M.M.
  TITLE     Mutation in FAM134B causing severe hereditary sensory neuropathy
  JOURNAL   J Neurol Neurosurg Psychiatry 83 (1), 119-120 (2012)
   PUBMED   21115472
  REMARK    GeneRIF: case report of homozygous nonsense mutation p.Q145X causing
            severe hereditary sensory neuropathy
REFERENCE   7  (bases 1 to 3208)
  AUTHORS   Kong M, Kim Y and Lee C.
  TITLE     A strong synergistic epistasis between FAM134B and TNFRSF19 on the
            susceptibility to vascular dementia
  JOURNAL   Psychiatr Genet 21 (1), 37-41 (2011)
   PUBMED   21127458
  REMARK    GeneRIF: The FAM134B and TNFRSF19 showed a dramatically strong
            synergistic epistasis in explaining the genetic dissection of the
            susceptibility to complex vascular dementia.
REFERENCE   8  (bases 1 to 3208)
  AUTHORS   Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier
            A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nurnberg G,
            Nurnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V and Hubner
            CA.
  TITLE     Mutations in FAM134B, encoding a newly identified Golgi protein,
            cause severe sensory and autonomic neuropathy
  JOURNAL   Nat Genet 41 (11), 1179-1181 (2009)
   PUBMED   19838196
  REMARK    GeneRIF: show that loss-of-function mutations in FAM134B, encoding a
            newly identified cis-Golgi protein, cause hereditary sensory and
            autonomic neuropathy type II.
REFERENCE   9  (bases 1 to 3208)
  AUTHORS   Tang WK, Chui CH, Fatima S, Kok SH, Pak KC, Ou TM, Hui KS, Wong MM,
            Wong J, Law S, Tsao SW, Lam KY, Beh PS, Srivastava G, Chan AS, Ho KP
            and Tang JC.
  TITLE     Oncogenic properties of a novel gene JK-1 located in chromosome 5p
            and its overexpression in human esophageal squamous cell carcinoma
  JOURNAL   Int J Mol Med 19 (6), 915-923 (2007)
   PUBMED   17487424
  REMARK    GeneRIF: The overexpression of JK-1(FAM134b) and its transforming
            capacity in normal cells may play a critical role in the molecular
            pathogenesis of esophageal squamous cell carcinoma.
REFERENCE   10  (bases 1 to 3208)
  AUTHORS   Kurth,I.
  TITLE     Hereditary Sensory and Autonomic Neuropathy Type II
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   21089229
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AL832438.1, SRR14038194.2526573.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000306320.10/ ENSP00000304642.9
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022113.6 and AC020980.6.
            On Aug 13, 2020 this sequence version replaced NM_001034850.2.
            Summary: The protein encoded by this gene is a cis-Golgi
            transmembrane protein that may be necessary for the long-term
            survival of nociceptive and autonomic ganglion neurons. Mutations
            in this gene are a cause of hereditary sensory and autonomic
            neuropathy type IIB (HSAN IIB), and this gene may also play a role
            in susceptibility to vascular dementia. Alternatively spliced
            transcript variants encoding multiple isoforms have been observed
            for this gene. [provided by RefSeq, Nov 2011].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3208
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.1"
     gene            1..3208
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="reticulophagy regulator 1"
                     /db_xref="GeneID:54463"
                     /db_xref="HGNC:HGNC:25964"
                     /db_xref="MIM:613114"
     CDS             27..1520
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein FAM134B; reticulophagy receptor FAM134B; family
                     with sequence similarity 134 member B; reticulophagy
                     receptor 1"
                     /codon_start=1
                     /product="reticulophagy regulator 1 isoform 1"
                     /protein_id="NP_001030022.1"
                     /db_xref="CCDS:CCDS43304.1"
                     /db_xref="GeneID:54463"
                     /db_xref="HGNC:HGNC:25964"
                     /db_xref="MIM:613114"
                     /translation="MASPAPPEHAEEGCPAPAAEEQAPPSPPPPQASPAERQQQEEEAQ
                     EAGAAEGAGLQVEEAAGRAAAAVTWLLGEPVLWLGCRADELLSWKRPLRSLLGFVAANL
                     LFWFLALTPWRVYHLISVMILGRVIMQIIKDMVLSRTRGAQLWRSLSESWEVINSKPDE
                     RPRLSHCIAESWMNFSIFLQEMSLFKQQSPGKFCLLVCSVCTFFTILGSYIPGVILSYL
                     LLLCAFLCPLFKCNDIGQKIYSKIKSVLLKLDFGIGEYINQKKRERSEADKEKSHKDDS
                     ELDFSALCPKISLTVAAKELSVSDTDVSEVSWTDNGTFNLSEGYTPQTDTSDDLDRPSE
                     EVFSRDLSDFPSLENGMGTNDEDELSLGLPTELKRKKEQLDSGHRPSKETQSAAGLTLP
                     LNSDQTFHLMSNLAGDVITAAVTAAIKDQLEGVQQALSQAAPIPEEDTDTEEGDDFELL
                     DQSELDQIESELGLTQDQEAEAQQNKKSSGFLSNLLGGH"
     misc_feature    27..179
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6L5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    204..266
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6L5.1);
                     transmembrane region"
     misc_feature    276..725
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6L5.1);
                     Region: Reticulon homology domain.
                     /evidence=ECO:0000305|PubMed:26040720"
     misc_feature    312..374
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6L5.1);
                     transmembrane region"
     misc_feature    381..443
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6L5.1);
                     transmembrane region"
     misc_feature    471..473
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:31930741; propagated from
                     UniProtKB/Swiss-Prot (Q9H6L5.1); phosphorylation site"
     misc_feature    477..479
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="Phosphoserine, by CAMK2B.
                     /evidence=ECO:0000269|PubMed:31930741; propagated from
                     UniProtKB/Swiss-Prot (Q9H6L5.1); phosphorylation site"
     misc_feature    483..485
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:31930741; propagated from
                     UniProtKB/Swiss-Prot (Q9H6L5.1); phosphorylation site"
     misc_feature    651..713
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6L5.1);
                     transmembrane region"
     misc_feature    981..1121
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6L5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1155..1214
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6L5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1332..1391
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6L5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1383..1400
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6L5.1);
                     Region: LIR motif. /evidence=ECO:0000305|PubMed:26040720"
     misc_feature    1428..1517
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6L5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     polyA_site      1564
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="major polyA site"
     regulatory      3202..3207
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="hexamer: TATAAA"
     polyA_site      3208
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="major polyA site"
ORIGIN
        1 gtccctgtct ggaagcacag ctgaagatgg cgagcccggc gcctccggag cacgccgagg
       61 agggatgccc ggctcctgcc gccgaggagc aggcgccgcc gtcgccgcca ccgccccagg
      121 catcccccgc agagcggcag cagcaggagg aggaagcgca ggaagctggg gcggcggagg
      181 gcgcggggtt gcaggtggag gaggccgcgg gccgggcggc ggccgcggta acctggctgc
      241 tcggggagcc ggtgctgtgg ctgggctgcc gcgccgacga gctgctgagc tggaagaggc
      301 cgctgcggag cctgctcggc ttcgtcgctg ccaacctgct gttctggttc cttgcattga
      361 ctccatggag agtatatcac ctgatttccg tcatgatact tgggcgtgtt attatgcaaa
      421 taataaagga tatggttttg tctagaacaa gaggtgcaca gttgtggaga agcctcagtg
      481 aaagctggga agttatcaat tccaaaccag atgaaagacc caggctcagc cactgtattg
      541 cagaatcatg gatgaatttc agcatatttc ttcaagaaat gtctcttttt aaacagcaga
      601 gccctggcaa gttttgtctc ctggtctgta gtgtgtgcac attttttacg atcttgggaa
      661 gttacattcc tggggttata ctcagctatc tactgttact gtgtgcattt ttgtgtccat
      721 tgtttaaatg taatgatatt ggacaaaaaa tttacagcaa aattaagtca gttctgctga
      781 aactggattt tggaattgga gaatatatta atcagaagaa acgtgagaga tctgaagcag
      841 acaaagaaaa aagtcacaaa gatgacagtg aattagactt ttcagctctt tgtcctaaga
      901 ttagcctcac ggttgctgcc aaagagttat ctgtgtctga cacagacgtc tcagaggtat
      961 cctggactga taatgggacc ttcaaccttt cagaaggata cactccacag acagacactt
     1021 ctgatgatct tgaccgaccc agtgaggaag ttttctctag agatctttca gattttccat
     1081 ctctagaaaa tggcatggga acaaatgatg aagatgaatt aagccttggt ttgcccactg
     1141 agctcaagag aaagaaggaa cagttggaca gtggtcacag accaagcaaa gagacgcaat
     1201 cagcagctgg tctcaccctt cctctgaaca gtgaccaaac ctttcacctg atgagcaacc
     1261 tggctgggga tgttatcaca gctgcagtga ctgcagctat caaagaccag ttagagggtg
     1321 tgcagcaagc actttctcag gctgccccca tcccagaaga ggacacagac actgaagaag
     1381 gtgatgactt tgaactactt gaccagtcag agctggatca aattgagagt gaattgggac
     1441 ttacacaaga ccaggaagca gaagcacagc aaaataagaa gtcttcaggt ttcctttcaa
     1501 atctgctggg aggccattaa tctaggaatc agcttgcaac agagcacaaa aaacaccaaa
     1561 aaaatttcaa acaagaaaaa aaaaaaaaaa aggaaaagaa aaaaattgaa ctgtaagctt
     1621 taatgattac tttagatttg ttttattttc cctcctgcag tgaattaatt ggatatatat
     1681 cagctgacac tgatagattg atatttctga tcgttatttt tgtgtaataa gcatggaaat
     1741 gaactttata cacaccactg tgttgtcaga gataaatatt aggggttgtt tttaaagcaa
     1801 aaagaaaaaa acaaaaacca aactattaaa atcctcctat aaatattctt tttctttaca
     1861 gtttttcaag catgcaaaac agtttattgt aacttactga aaaatattaa caattaattg
     1921 tgaatacatg ctgttaccag cttccttatt cctaatacct ggaaaatttt tttttcaacg
     1981 gatagatttt gatgtaaaaa agaccgaaat tatcaaggta tcttagttga aggacttggg
     2041 aaatactatc aaaattaatt tcttaggaaa aaatttaaaa gtatatttaa gtactctgga
     2101 tagactgaaa cgtttccatg ttatttctgc agttgtagac ttaggcttat ttgtaaagaa
     2161 gcatgctcca ttgactgcca tctctagtct tgcagtgggt ggtattaacc catagaaagc
     2221 aagcagttgt gtatcacata gacaatggtt atgatgtaaa cagattcagt tgttttgttg
     2281 ttcattcgtc atatgtttgt gatagggatg ttgggagcac agctctattc tgcctgctca
     2341 gacttaagtt agacccttat cttttatatt atgtcatgaa aaaagtctcc taaaattgtg
     2401 aaactagttc ttgatgagtg atgtgatcat cagcaataaa gatataataa ctctgttttc
     2461 ttagcctgta tagaggagag gaacttgctt ggctttaaaa tatatttatt tgccatttaa
     2521 gtataaatat ggaatctgtt tcttattggg aagatagaat atatatattt tcctttaaac
     2581 tttttaaggt cacttttaaa taaccaaatt tgatttatgg tttttaacaa aggactaaag
     2641 agctgaaacc aacctagttt tgtttttgtg atataaactt taagtgtcga gggaccatgc
     2701 cagcaactac caaaaatctc ttaaatcttc aggtacagct ggcattttgg cagatgcata
     2761 gagacatctg agaccctcag aaaggaagga taatccaaga atataggaaa tctgtgttct
     2821 cttcctttca ttttatccct tatatttcta aagactaatt ataagtaatc tgacatttta
     2881 atgtagctac tcttatttat tttttctttc tgaggtatta aaatatctgg actgagtttt
     2941 gccaaatgtt aaagggagaa gagttactga agactttgaa cacttgcttt ttgtgattgc
     3001 ttatgtcatt agtgcctcat gactgtgttt gatgtccttt attgatacaa agtgagcctg
     3061 tgccttcatt atcttgccca ttttaataca aatggaaacc tggtgtttga aaatctctga
     3121 actgtgtggg ttttggagga atatacctga attttattca ataacagttt ctggacagga
     3181 agaaaaatac agttacatat ttataaaa
//
LOCUS       NM_001034852            3679 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens SPARC related modular calcium binding 1 (SMOC1),
            transcript variant 1, mRNA.
ACCESSION   NM_001034852
VERSION     NM_001034852.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3679)
  AUTHORS   Wang Y, Gu J, Du A, Zhang S, Deng M, Zhao R, Lu Y, Ji Y, Shao Y, Sun
            W and Kong X.
  TITLE     SPARC-related modular calcium binding 1 regulates aortic valve
            calcification by disrupting BMPR-II/p-p38 signalling
  JOURNAL   Cardiovasc Res 118 (3), 913-928 (2022)
   PUBMED   33757126
  REMARK    GeneRIF: SPARC-related modular calcium binding 1 regulates aortic
            valve calcification by disrupting BMPR-II/p-p38 signalling.
REFERENCE   2  (bases 1 to 3679)
  AUTHORS   Lyubchenko T, Collins HK, Vang KA, Leung DYM and Goleva E.
  TITLE     SMOC1 and IL-4 and IL-13 Cytokines Interfere with Ca2+ Mobilization
            in Primary Human Keratinocytes
  JOURNAL   J Invest Dermatol 141 (7), 1792-1801 (2021)
   PUBMED   33484701
  REMARK    GeneRIF: SMOC1 and IL-4 and IL-13 Cytokines Interfere with Ca(2+)
            Mobilization in Primary Human Keratinocytes.
REFERENCE   3  (bases 1 to 3679)
  AUTHORS   Delgado Lagos F, Elgheznawy A, Kyselova A, Meyer Zu Heringdorf D,
            Ratiu C, Randriamboavonjy V, Mann AW, Fisslthaler B, Siragusa M and
            Fleming I.
  TITLE     Secreted modular calcium-binding protein 1 binds and activates
            thrombin to account for platelet hyperreactivity in diabetes
  JOURNAL   Blood 137 (12), 1641-1651 (2021)
   PUBMED   33529332
  REMARK    GeneRIF: Secreted modular calcium-binding protein 1 binds and
            activates thrombin to account for platelet hyperreactivity in
            diabetes.
REFERENCE   4  (bases 1 to 3679)
  AUTHORS   Mancini C, Zonta A, Botta G, Breda Klobus A, Valbonesi S, Pasini B,
            Giorgio E, Viora E, Brusco A and Brussino A.
  TITLE     A fetal case of microphthalmia and limb anomalies with abnormal
            neuronal migration associated with SMOC1 biallelic variants
  JOURNAL   Eur J Med Genet 62 (11), 103578 (2019)
   PUBMED   30445150
  REMARK    GeneRIF: Exome sequencing identified two variants in the SMOC1 gene,
            each inherited from one of the parents: c.709G>T - p.(Glu237*) on
            exon 8 and c.1223G>A - p.(Cys408Tyr) on exon 11, both predicted to
            be pathogenic by different bioinformatics software. Brain
            histopathology showed an abnormal cortical neuronal migration, which
            could be related to the SMOC1 protein function, given its role in
            cellular signaling
REFERENCE   5  (bases 1 to 3679)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3679)
  AUTHORS   Choi YA, Lim J, Kim KM, Acharya B, Cho JY, Bae YC, Shin HI, Kim SY
            and Park EK.
  TITLE     Secretome analysis of human BMSCs and identification of SMOC1 as an
            important ECM protein in osteoblast differentiation
  JOURNAL   J Proteome Res 9 (6), 2946-2956 (2010)
   PUBMED   20359165
  REMARK    GeneRIF: Analyzed the secretory protein profiles of BMSCs grown in
            osteogenic medium (OSM) and identified SPARC-related modular
            calcium-binding protein 1 (SMOC1), a member of the SPARC family, as
            a regulator of osteoblast differentiation of BMSCs.
REFERENCE   7  (bases 1 to 3679)
  AUTHORS   Sherva R, Miller MB, Lynch AI, Devereux RB, Rao DC, Oberman A,
            Hopkins PN, Kitzman DW, Atwood LD and Arnett DK.
  TITLE     A whole genome scan for pulse pressure/stroke volume ratio in
            African Americans: the HyperGEN study
  JOURNAL   Am J Hypertens 20 (4), 398-402 (2007)
   PUBMED   17386346
  REMARK    GeneRIF: SMOC-1 is of physiological interest because it codes a
            secreted glycoprotein with five domains, each containing regions
            homologous to those on other proteins that mediate cell-matrix
            interactions.
REFERENCE   8  (bases 1 to 3679)
  AUTHORS   Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C,
            Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A,
            Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du
            H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon O,
            Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere F,
            Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors
            M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A,
            Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S,
            Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C,
            Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette
            S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D,
            Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A,
            Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C,
            Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D,
            Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J,
            Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F,
            Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F,
            Waterston R, Hood L and Weissenbach J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
  REMARK    Erratum:[Nature. 2023 Aug;620(7973):E17. PMID: 37491470]
REFERENCE   9  (bases 1 to 3679)
  AUTHORS   Vannahme C, Smyth N, Miosge N, Gosling S, Frie C, Paulsson M, Maurer
            P and Hartmann U.
  TITLE     Characterization of SMOC-1, a novel modular calcium-binding protein
            in basement membranes
  JOURNAL   J Biol Chem 277 (41), 37977-37986 (2002)
   PUBMED   12130637
  REMARK    GeneRIF: isolation of the novel gene SMOC-1 encoding a secreted
            modular protein containing an EF-hand calcium-binding domain;
            localization within basement membranes in kidney and skeletal muscle
            and expression in the zona pellucida surrounding the oocyte
REFERENCE   10  (bases 1 to 3679)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301552
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK289988.1, BC011548.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000361956.8/ ENSP00000355110.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA805236.1, BC011548.1,
            AJ249900.1, AK098441.1 and BQ183777.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001034852.2.
            Summary: This gene encodes a multi-domain secreted protein that may
            have a critical role in ocular and limb development. Mutations in
            this gene are associated with microphthalmia and limb anomalies.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Mar
            2011].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3679
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.2"
     gene            1..3679
                     /gene="SMOC1"
                     /gene_synonym="OAS"
                     /note="SPARC related modular calcium binding 1"
                     /db_xref="GeneID:64093"
                     /db_xref="HGNC:HGNC:20318"
                     /db_xref="MIM:608488"
     misc_feature    111..113
                     /gene="SMOC1"
                     /gene_synonym="OAS"
                     /note="upstream in-frame stop codon"
     CDS             264..1571
                     /gene="SMOC1"
                     /gene_synonym="OAS"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; secreted modular calcium-binding protein 1"
                     /codon_start=1
                     /product="SPARC-related modular calcium-binding protein 1
                     isoform 1 precursor"
                     /protein_id="NP_001030024.1"
                     /db_xref="CCDS:CCDS32110.1"
                     /db_xref="GeneID:64093"
                     /db_xref="HGNC:HGNC:20318"
                     /db_xref="MIM:608488"
                     /translation="MLPARCARLLTPHLLLVLVQLSPARGHRTTGPRFLISDRDPQCNL
                     HCSRTQPKPICASDGRSYESMCEYQRAKCRDPTLGVVHRGRCKDAGQSKCRLERAQALE
                     QAKKPQEAVFVPECGEDGSFTQVQCHTYTGYCWCVTPDGKPISGSSVQNKTPVCSGSVT
                     DKPLSQGNSGRKDDGSKPTPTMETQPVFDGDEITAPTLWIKHLVIKDSKLNNTNIRNSE
                     KVYSCDQERQSALEEAQQNPREGIVIPECAPGGLYKPVQCHQSTGYCWCVLVDTGRPLP
                     GTSTRYVMPSCESDARAKTTEADDPFKDRELPGCPEGKKMEFITSLLDALTTDMVQAIN
                     SAAPTGGGRFSEPDPSHTLEERVVHWYFSQLDSNSSNDINKREMKPFKRYVKKKAKPKK
                     CARRFTDYCDLNKDKVISLPELKGCLGVSKEVGRLV"
     sig_peptide     264..341
                     /gene="SMOC1"
                     /gene_synonym="OAS"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     342..1568
                     /gene="SMOC1"
                     /gene_synonym="OAS"
                     /product="SPARC-related modular calcium-binding protein 1
                     isoform 1"
     misc_feature    708..836
                     /gene="SMOC1"
                     /gene_synonym="OAS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H4F8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    903..905
                     /gene="SMOC1"
                     /gene_synonym="OAS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9H4F8.1); glycosylation site"
     misc_feature    1383..1385
                     /gene="SMOC1"
                     /gene_synonym="OAS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9H4F8.1); glycosylation site"
     regulatory      1916..1921
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMOC1"
                     /gene_synonym="OAS"
                     /note="hexamer: AATATA"
     polyA_site      1953
                     /gene="SMOC1"
                     /gene_synonym="OAS"
                     /note="major polyA site"
     regulatory      3658..3663
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMOC1"
                     /gene_synonym="OAS"
                     /note="hexamer: AATAAA"
     polyA_site      3679
                     /gene="SMOC1"
                     /gene_synonym="OAS"
                     /note="major polyA site"
ORIGIN
        1 aggcgtccaa cctgctgccg cctgggcccc gccgagcgga gctagcgccg cgcgcagagc
       61 acacgctcgc gctccagctc ccctcctgcg cggttcatga ctgtgtcccc tgaccgcagc
      121 ctctgcgagc ccccgccgca ggaccacggc ccgctccccg ccgccgcgag ggccccgagc
      181 gaaggaagga agggaggcgc gctgtgcgcc ccgcggagcc cgcgaacccc gctcgctgcc
      241 ggctgcccag cctggctggc accatgctgc ccgcgcgctg cgcccgcctg ctcacgcccc
      301 acttgctgct ggtgttggtg cagctgtccc ctgctcgcgg ccaccgcacc acaggcccca
      361 ggtttctaat aagtgaccgt gacccacagt gcaacctcca ctgctccagg actcaaccca
      421 aacccatctg tgcctctgat ggcaggtcct acgagtccat gtgtgagtac cagcgagcca
      481 agtgccgaga cccgaccctg ggcgtggtgc atcgaggtag atgcaaagat gctggccaga
      541 gcaagtgtcg cctggagcgg gctcaagccc tggagcaagc caagaagcct caggaagctg
      601 tgtttgtccc agagtgtggc gaggatggct cctttaccca ggtgcagtgc catacttaca
      661 ctgggtactg ctggtgtgtc accccggatg ggaagcccat cagtggctct tctgtgcaga
      721 ataaaactcc tgtatgttca ggttcagtca ccgacaagcc cttgagccag ggtaactcag
      781 gaaggaaaga tgacgggtct aagccgacac ccacgatgga gacccagccg gtgttcgatg
      841 gagatgaaat cacagcccca actctatgga ttaaacactt ggtgatcaag gactccaaac
      901 tgaacaacac caacataaga aattcagaga aagtctattc gtgtgaccag gagaggcaga
      961 gtgccctgga agaggcccag cagaatcccc gtgagggtat tgtcatccct gaatgtgccc
     1021 ctgggggact ctataagcca gtgcaatgcc accagtccac tggctactgc tggtgtgtgc
     1081 tggtggacac agggcgcccg ctgcctggga cctccacacg ctacgtgatg cccagttgtg
     1141 agagcgacgc cagggccaag actacagagg cggatgaccc cttcaaggac agggagctac
     1201 caggctgtcc agaagggaag aaaatggagt ttatcaccag cctactggat gctctcacca
     1261 ctgacatggt tcaggccatt aactcagcag cgcccactgg aggtgggagg ttctcagagc
     1321 cagaccccag ccacaccctg gaggagcggg tagtgcactg gtatttcagc cagctggaca
     1381 gcaatagcag caacgacatt aacaagcggg agatgaagcc cttcaagcgc tacgtgaaga
     1441 agaaagccaa gcccaagaaa tgtgcccggc gtttcaccga ctactgtgac ctgaacaaag
     1501 acaaggtcat ttcactgcct gagctgaagg gctgcctggg tgttagcaaa gaagtaggac
     1561 gcctcgtcta aggagcagaa aacccaaggg caggtggaga gtccagggag gcaggatgga
     1621 tcaccagaca cctaaccttc agcgttgccc atggccctgc cacatcccgt gtaacataag
     1681 tggtgcccac catgtttgca cttttaataa ctcttacttg cgtgttttgt ttttggtttc
     1741 attttaaaac accaatatct aataccacag tgggaaaagg aaagggaaga aagactttat
     1801 tctctctctt attgtaagtt tttggatctg ctactgacaa cttttagagg gttttggggg
     1861 ggtgggggag ggtgttgttg gggctgagaa gaaagagatt tatatgctgt atataaatat
     1921 atatgtaaat tgtatagttc ttttgtacag gcattggcat tgctgtttgt ttatttctct
     1981 ccctctgcct gctgtgggtg gtgggcactc tggacacata gtccagcttt ctaaaatcca
     2041 ggactctatc ctgggcctac taaacttctg tttggagact gacccttgtg tataaagacg
     2101 ggagtcctgc aattgtactg cggactccac gagttctttt ctggtgggag gactatattg
     2161 ccccatgcca ttagttgtca aaattgataa gtcacttggc tctcggcctt gtccagggag
     2221 gttgggctaa ggagagatgg aaactgccct gggagaggaa gggagtccag atcccatgaa
     2281 tagcccacac aggtaccggc tctcagaggg tccgtgcatt cctgctctcc ggacccccaa
     2341 agggcccagc attggtgggt gcaccagtat cttagtgacc ctcggagcaa attatccaca
     2401 aaggatttgc attacgtcac tcgaaacgtt ttcatccatg cttagcatct actctgtata
     2461 acgcatgaga ggggaggcaa agaagaaaaa gacacacaga agggccttta aaaaagtaga
     2521 tatttaatat ctaagcaggg gaggggacag gacagaaagc ctgcactgag gggtgcggtg
     2581 ccaacaggga aactcttcac ctccctgcaa acctaccagt gaggctccca gagacgcagc
     2641 tgtctcagtg ccaggggcag attgggtgtg acctctccac tcctccatct cctgctgttg
     2701 tcctagtggc tatcacaggc ctgggtgggt gggttggggg aggtgtcagt caccttgttg
     2761 gtaacactaa agttgttttg ttggtttttt aaaaacccaa tactgaggtt cttcctgttc
     2821 cctcaagttt tcttatgggc ttccaggctt taagctaatt ccagaagtaa aactgatctt
     2881 gggtttccta ttctgcctcc cctagaaggg caggggtgat aacccagcta cagggaaatc
     2941 ccggcccagc tttccacagg catcacaggc atcttccgcg gattctaggg tgggctgccc
     3001 agccttctgg tctgaggcgc agctccctct gcccaggtgc tgtgcctatt caagtggcct
     3061 tcaggcagag cagcaagtgg cccttagcgc cccttcccat aagcagctgt ggtggcagtg
     3121 agggaggttg ggtagccctg gactggtccc ctcctcagat cacccttgca aatctggcct
     3181 catcttgtat tccaacccga catccctaaa agtacctcca cccgttccgg gtctggaagg
     3241 cgttggcacc acaagcactg tccctgtggg aggagcacaa ccttctcggg acaggatctg
     3301 atggggtctt gggctaaagg aggtccctgc tgtcctggag aaagtcctag aggttatctc
     3361 aggaatgact ggtggccctg ccccaacgtg gaaaggtggg aaggaagcct tctcccatta
     3421 gccccaatga gagaactcaa cgtgccggag ctgagtgggc cttgcacgag acactggccc
     3481 cactttcagg cctggaggaa gcatgcacac atggagacgg cgcctgcctg tagatgtttg
     3541 gatcttcgag atctccccag gcatcttgtc tcccacagga tcgtgtgtgt aggtggtgtt
     3601 gtgtggtttt cctttgtgaa ggagagaggg aaactatttg tagcttgttt tataaaaaat
     3661 aaaaaatggg taaatcttg
//
LOCUS       NM_001034853            4733 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens retinitis pigmentosa GTPase regulator (RPGR),
            transcript variant C, mRNA.
ACCESSION   NM_001034853
VERSION     NM_001034853.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4733)
  AUTHORS   Benson MD, Mukherjee S, Agather AR, Blain D, Cunningham D, Mays R,
            Sun X, Li T, Hufnagel RB, Brooks BP, Huryn LA, Zein WM and Cukras
            CA.
  TITLE     RPGR: Deep Phenotyping and Genetic Characterization With Findings
            Specific to the 3'-end of ORF15
  JOURNAL   Invest Ophthalmol Vis Sci 64 (12), 19 (2023)
   PUBMED   37695603
  REMARK    GeneRIF: RPGR: Deep Phenotyping and Genetic Characterization With
            Findings Specific to the 3'-end of ORF15.
REFERENCE   2  (bases 1 to 4733)
  AUTHORS   Usman M, Juschke C, Song F, Kastrati D, Owczarek-Lipska M, Eilers J,
            Pauleikhoff L, Lange C and Neidhardt J.
  TITLE     Skewed X-inactivation is associated with retinal dystrophy in female
            carriers of RPGR mutations
  JOURNAL   Life Sci Alliance 6 (10), e202201814 (2023)
   PUBMED   37541846
  REMARK    GeneRIF: Skewed X-inactivation is associated with retinal dystrophy
            in female carriers of RPGR mutations. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 4733)
  AUTHORS   Yahya S, Watson CM, Carr I, McKibbin M, Crinnion LA, Taylor M, Bonin
            H, Fletcher T, El-Asrag ME, Ali M, Toomes C and Inglehearn CF.
  TITLE     Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following
            DNase I Treatment of MinION Flow Cells
  JOURNAL   Mol Diagn Ther 27 (4), 525-535 (2023)
   PUBMED   37284979
  REMARK    GeneRIF: Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced
            Following DNase I Treatment of MinION Flow Cells.
REFERENCE   4  (bases 1 to 4733)
  AUTHORS   Kuruvilla SE, Song E, Raoof N, van Bysterveldt K, Oliver VF, Hong
            SC, Al-Taie R, Wilson G and Vincent AL.
  TITLE     Genotypic and phenotypic characterisation of RP2- and
            RPGR-associated X-linked inherited retinal dystrophy, including
            female manifestations
  JOURNAL   Clin Exp Ophthalmol 51 (4), 300-312 (2023)
   PUBMED   36882936
  REMARK    GeneRIF: Genotypic and phenotypic characterisation of RP2- and
            RPGR-associated X-linked inherited retinal dystrophy, including
            female manifestations.
REFERENCE   5  (bases 1 to 4733)
  AUTHORS   Roshandel D, Lamey TM, Charng J, Heath Jeffery RC, McLaren TL,
            Thompson JA, De Roach JN, McLenachan S, Mackey DA and Chen FK.
  TITLE     Microperimetry and Adaptive Optics Imaging Reveal Localized
            Functional and Structural Changes in Asymptomatic RPGR Mutation
            Carriers
  JOURNAL   Invest Ophthalmol Vis Sci 64 (1), 3 (2023)
   PUBMED   36607619
  REMARK    GeneRIF: Microperimetry and Adaptive Optics Imaging Reveal Localized
            Functional and Structural Changes in Asymptomatic RPGR Mutation
            Carriers.
REFERENCE   6  (bases 1 to 4733)
  AUTHORS   Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ,
            Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R,
            Ropers HH, Cremers FP and Berger W.
  TITLE     Positional cloning of the gene for X-linked retinitis pigmentosa 3:
            homology with the guanine-nucleotide-exchange factor RCC1
  JOURNAL   Hum Mol Genet 5 (7), 1035-1041 (1996)
   PUBMED   8817343
REFERENCE   7  (bases 1 to 4733)
  AUTHORS   Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A,
            Carvalho MR, Achatz H, Hellebrand H, Lennon A, Migliaccio C, Porter
            K, Zrenner E, Bird A, Jay M, Lorenz B, Wittwer B, D'Urso M,
            Meitinger T and Wright A.
  TITLE     A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange
            factor is mutated in X-linked retinitis pigmentosa (RP3)
  JOURNAL   Nat Genet 13 (1), 35-42 (1996)
   PUBMED   8673101
REFERENCE   8  (bases 1 to 4733)
  AUTHORS   McGuire RE, Sullivan LS, Blanton SH, Church MW, Heckenlively JR and
            Daiger SP.
  TITLE     X-linked dominant cone-rod degeneration: linkage mapping of a new
            locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11
  JOURNAL   Am J Hum Genet 57 (1), 87-94 (1995)
   PUBMED   7611300
REFERENCE   9  (bases 1 to 4733)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
REFERENCE   10  (bases 1 to 4733)
  AUTHORS   Ott J, Bhattacharya S, Chen JD, Denton MJ, Donald J, Dubay C, Farrar
            GJ, Fishman GA, Frey D, Gal A et al.
  TITLE     Localizing multiple X chromosome-linked retinitis pigmentosa loci
            using multilocus homogeneity tests
  JOURNAL   Proc Natl Acad Sci U S A 87 (2), 701-704 (1990)
   PUBMED   2300556
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BK005711.1, SRR14038193.4037070.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000645032.1/ ENSP00000495537.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP233620.1, BK005711.1 and
            AL606748.9.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001034853.1.
            Summary: This gene encodes a protein with a series of six RCC1-like
            domains (RLDs), characteristic of the highly conserved guanine
            nucleotide exchange factors. The encoded protein is found in the
            Golgi body and interacts with RPGRIP1. This protein localizes to
            the outer segment of rod photoreceptors and is essential for their
            viability. Mutations in this gene have been associated with
            X-linked retinitis pigmentosa (XLRP). Multiple alternatively
            spliced transcript variants that encode different isoforms of this
            gene have been reported, but the full-length natures of only some
            have been determined. [provided by RefSeq, Dec 2008].
            Transcript Variant: This variant (C) encodes the longest isoform
            (C).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4733
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.4"
     gene            1..4733
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /note="retinitis pigmentosa GTPase regulator"
                     /db_xref="GeneID:6103"
                     /db_xref="HGNC:HGNC:10295"
                     /db_xref="MIM:312610"
     misc_feature    2..4
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /note="upstream in-frame stop codon"
     CDS             143..3601
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /note="isoform C is encoded by transcript variant C;
                     retinitis pigmentosa 3 GTPase regulator; X-linked retinitis
                     pigmentosa GTPase regulator; retinitis pigmentosa 15"
                     /codon_start=1
                     /product="X-linked retinitis pigmentosa GTPase regulator
                     isoform C"
                     /protein_id="NP_001030025.1"
                     /db_xref="CCDS:CCDS35229.1"
                     /db_xref="GeneID:6103"
                     /db_xref="HGNC:HGNC:10295"
                     /db_xref="MIM:312610"
                     /translation="MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGDE
                     HSAVVTGNNKLYMFGSNNWGQLGLGSKSAISKPTCVKALKPEKVKLAACGRNHTLVSTE
                     GGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTEDGRLFM
                     WGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPENGKL
                     GLPNQLLGNHRTPQLVSEIPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFLF
                     ETSEPKVIENIRDQTISYISCGENHTALITDIGLMYTFGDGRHGKLGLGLENFTNHFIP
                     TLCSNFLRFIVKLVACGGCHMVVFAAPHRGVAKEIEFDEINDTCLSVATFLPYSSLTSG
                     NVLQRTLSARMRRRERERSPDSFSMRRTLPPIEGTLGLSACFLPNSVFPRCSERNLQES
                     VLSEQDLMQPEEPDYLLDEMTKEAEIDNSSTVESLGETTDILNMTHIMSLNSNEKSLKL
                     SPVQKQKKQQTIGELTQDTALTENDDSDEYEEMSEMKEGKACKQHVSQGIFMTQPATTI
                     EAFSDEEVEIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAE
                     VSEGKAKSVGEAEDGPEGRGDGTCEEGSSGAEHWQDEEREKGEKDKGRGEMERPGEGEK
                     ELAEKEEWKKRDGEEQEQKEREQGHQKERNQEMEEGGEEEHGEGEEEEGDREEEEEKEG
                     EGKEEGEGEEVEGEREKEEGERKKEERAGKEEKGEEEGDQGEGEEEETEGRGEEKEEGG
                     EVEGGEVEEGKGEREEEEEEGEGEEEEGEGEEEEGEGEEEEGEGKGEEEGEEGEGEEEG
                     EEGEGEGEEEEGEGEGEEEGEGEGEEEEGEGEGEEEGEGEGEEEEGEGKGEEEGEEGEG
                     EGEEEEGEGEGEDGEGEGEEEEGEWEGEEEEGEGEGEEEGEGEGEEGEGEGEEEEGEGE
                     GEEEEGEEEGEEEGEGEEEGEGEGEEEEEGEVEGEVEGEEGEGEGEEEEGEEEGEEREK
                     EGEGEENRRNREEEEEEEGKYQETGEEENERQDGEEYKKVSKIKGSVKYGKHKTYQKKS
                     VTNTQGNGKEQRSKMPVQSKRLLKNGPSGSKKFWNNVLPHYLELK"
     regulatory      4716..4721
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /note="hexamer: AATAAA"
     polyA_site      4733
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /note="major polyA site"
ORIGIN
        1 gtagttgatc tccggagttt cgccatgcgg aacttggggg ctttcgcggc ccgcgtcggt
       61 gcggagtagc tgctttagcc ccgaccaaac cgtcctctac agcctcctgg ccccggcgca
      121 ggctgcccgt actgcccgtg gcatgaggga gccggaagag ctgatgcccg attcgggtgc
      181 tgtgtttaca tttgggaaaa gtaaatttgc tgaaaataat cccggtaaat tctggtttaa
      241 aaatgatgtc cctgtacatc tttcatgtgg agatgaacat tctgctgttg ttaccggaaa
      301 taataaactt tacatgtttg gcagtaacaa ctggggtcag ttaggattag gatcaaagtc
      361 agccatcagc aagccaacat gtgtcaaagc tctaaaacct gaaaaagtga aattagctgc
      421 ctgtggaagg aaccacaccc tggtgtcaac agaaggaggc aatgtatatg caactggtgg
      481 aaataatgaa ggacagttgg ggcttggtga caccgaagaa agaaacactt ttcatgtaat
      541 tagctttttt acatccgagc ataagattaa gcagctgtct gctggatcta atacttcagc
      601 tgccctaact gaggatggaa gactttttat gtggggtgac aattccgaag ggcaaattgg
      661 tttaaaaaat gtaagtaatg tctgtgtccc tcagcaagtg accattggga aacctgtctc
      721 ctggatctct tgtggatatt accattcagc ttttgtaaca acagatggtg agctatatgt
      781 gtttggagaa cctgagaatg ggaagttagg tcttcccaat cagctcctgg gcaatcacag
      841 aacaccccag ctggtgtctg aaattccgga gaaggtgatc caagtagcct gtggtggaga
      901 gcatactgtg gttctcacgg agaatgctgt gtataccttt gggctgggac aatttggtca
      961 gctgggtctt ggcacttttc tttttgaaac ttcagaaccc aaagtcattg agaatattag
     1021 ggatcaaaca ataagttata tttcttgtgg agaaaatcac acagctttga taacagatat
     1081 cggccttatg tatacttttg gagatggtcg ccacggaaaa ttaggacttg gactggagaa
     1141 ttttaccaat cacttcattc ctactttgtg ctctaatttt ttgaggttta tagttaaatt
     1201 ggttgcttgt ggtggatgtc acatggtagt ttttgctgct cctcatcgtg gtgtggcaaa
     1261 agaaattgaa ttcgatgaaa taaatgatac ttgcttatct gtggcgactt ttctgccgta
     1321 tagcagttta acctcaggaa atgtactgca gaggactcta tcagcacgta tgcggcgaag
     1381 agagagggag aggtctccag attctttttc aatgaggaga acactacctc caatagaagg
     1441 gactcttggc ctttctgctt gttttctccc caattcagtc tttccacgat gttctgagag
     1501 aaacctccaa gagagtgtct tatctgaaca ggacctcatg cagccagagg aaccagatta
     1561 tttgctagat gaaatgacca aagaagcaga gatagataat tcttcaactg tagaaagcct
     1621 tggagaaact actgatatct taaacatgac acacatcatg agcctgaatt ccaatgaaaa
     1681 gtcattaaaa ttatcaccag ttcagaaaca aaagaaacaa caaacaattg gggaactgac
     1741 gcaggataca gctcttactg aaaacgatga tagtgatgaa tatgaagaaa tgtcagaaat
     1801 gaaagaaggg aaagcatgta aacaacatgt gtcacaaggg attttcatga cgcagccagc
     1861 tacgactatc gaagcatttt cagatgagga agtagagatc ccagaggaga aggaaggagc
     1921 agaggattca aaaggaaatg gaatagagga gcaagaggta gaagcaaatg aggaaaatgt
     1981 gaaggtgcat ggaggaagaa aggagaaaac agagatccta tcagatgacc ttacagacaa
     2041 agcagaggtg agtgaaggca aggcaaaatc agtgggagaa gcagaggatg ggcctgaagg
     2101 tagaggggat ggaacctgtg aggaaggtag ttcaggagca gaacactggc aagatgagga
     2161 gagggagaag ggggagaaag acaagggtag aggagaaatg gagaggccag gagagggaga
     2221 gaaggaacta gcagagaagg aagaatggaa gaagagggat ggggaagagc aggagcaaaa
     2281 ggagagggag cagggccatc agaaggaaag aaaccaagag atggaggagg gaggggagga
     2341 ggagcatgga gaaggagaag aagaggaggg agacagagaa gaggaagaag agaaggaggg
     2401 agaagggaaa gaggaaggag aaggggaaga agtggaggga gaacgtgaaa aggaggaagg
     2461 agagaggaaa aaggaggaaa gagcggggaa ggaggagaaa ggagaggaag aaggagacca
     2521 aggagagggg gaagaggagg aaacagaggg gagaggggag gaaaaagagg agggagggga
     2581 agtagaggga ggggaagtag aggaggggaa aggagagagg gaagaggaag aggaggaggg
     2641 tgagggggaa gaggaggaag gggaggggga agaggaggaa ggggaggggg aagaggagga
     2701 aggagaaggg aaaggggagg aagaagggga agaaggagaa ggggaggaag aaggggagga
     2761 aggagaaggg gagggggaag aggaggaagg agaaggggag ggagaagagg aaggagaagg
     2821 ggagggagaa gaggaggaag gagaagggga gggagaagag gaaggagaag gggagggaga
     2881 agaggaggaa ggagaaggga aaggggagga ggaaggagag gaaggagaag gggaggggga
     2941 agaggaggaa ggagaagggg aaggggagga tggagaaggg gagggggaag aggaggaagg
     3001 agaatgggag ggggaagagg aggaaggaga aggggagggg gaagaggaag gagaagggga
     3061 aggggaggaa ggagaagggg agggggaaga ggaggaagga gaaggggagg gggaagagga
     3121 ggaaggggaa gaagaagggg aggaagaagg agagggagag gaagaagggg agggagaagg
     3181 ggaggaagaa gaggaagggg aagtggaagg ggaggtggaa ggggaggaag gagaggggga
     3241 aggagaggaa gaggaaggag aggaggaagg agaagaaagg gaaaaggagg gggaaggaga
     3301 agaaaacagg aggaacagag aagaggagga ggaagaagag gggaagtatc aggagacagg
     3361 cgaagaagag aatgaaaggc aggatggaga ggagtacaaa aaagtgagca aaataaaagg
     3421 atctgtgaaa tatggcaaac ataaaacata tcaaaaaaag tcagttacta acacacaggg
     3481 aaatgggaaa gagcagaggt ccaaaatgcc agtccagtca aaacgacttt taaaaaacgg
     3541 gccatcaggt tccaaaaagt tctggaataa tgtattacca cattacttgg aattgaagta
     3601 acaaacctta aatgtgaccc gattatggcc agtcagacaa tttaaatgcc ttgcatataa
     3661 cgggcactca ttacgtgtta ttaaattgat tttatgtcaa ttattttatg tgtagtaaaa
     3721 aaaaaagcaa ctgatgcagc tgtgttaagg agccaaagac aataggaggc actggtaaat
     3781 tttggcctct ctcaaactaa aattttcgtg tatttccccc ccaaattata aaaacataac
     3841 tagaaaatat taaaaggtca tatcagatta ttaacattat atattcatta aaggcagctt
     3901 taggaaacag gaatatacta caagagtgtt ttgtttgtgt atacaaatca ttccattttt
     3961 aaatggcaca gatgcttaag ggctataaaa acttctaatt tcttataaat atgttagcac
     4021 tttttttaag ttagtgatta cagtttacct actgtataga ataattttct aataatggat
     4081 ggtattctaa aactcaattg aggcattcac attttaaaga aagtattgtc tttcaccttt
     4141 tatgtgttct ttttgcaaaa atctacaaag tgacagctgt gttcagagct tagatcccaa
     4201 aaacgtgatc tcttttagtt actatctggg cagatggtag tatatctaat gaaatggtga
     4261 ttaatttaaa tgtataatct ggaaatatgt aaaacttgaa gtattttttg tccaggcaaa
     4321 ggtactcatt gggcctcagt ttcttcatct ctaaaatgga gtggatgaga tgatgtgata
     4381 actgcagtcc cttctaactc ttaaattctt ttcattctca cagattcact ctatcattat
     4441 tgttattcat gtaagaaacg ttttagggag aaaaattaca ctttaaaatt aatttagttt
     4501 tctatacagt tgttttcttt actcttgaaa agttatgaca gctttaacgt ctcttgtctt
     4561 ctgtaatttt ttatttctaa actcctatca tttccaagct ttaactgtac tttatcagag
     4621 ccttcatttc tggtatgtgt tatatgccct caatgtattc actgactgtt ctgtaatttc
     4681 agtttgtctg ttccttgtca gaatgtttca agtaaaataa aaaattaaat gta
//
LOCUS       NM_001034954            7348 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript
            variant 3, mRNA.
ACCESSION   NM_001034954
VERSION     NM_001034954.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7348)
  AUTHORS   Lin Y, Wang W, Wang Y and Fu K.
  TITLE     MiR-223-3p increases resistance of colorectal cancer cells to
            5-fluorouracil via targeting SORBS1
  JOURNAL   Zhong Nan Da Xue Xue Bao Yi Xue Ban 48 (3), 356-368 (2023)
   PUBMED   37164919
  REMARK    GeneRIF: MiR-223-3p increases resistance of colorectal cancer cells
            to 5-fluorouracil via targeting SORBS1.
REFERENCE   2  (bases 1 to 7348)
  AUTHORS   Gong S, Huo S, Luo Y, Li Y, Ma Y, Huang X, Hu M, Liu W, Zhang R, Cai
            X, Zhou L, Chen L, Ren Q, Zhang S, Zhu Y, Zhang X, Chen J, Wu J,
            Zhou X, Lin X, Han X and Ji L.
  TITLE     A variation in SORBS1 is associated with type 2 diabetes and
            high-density lipoprotein cholesterol in Chinese population
  JOURNAL   Diabetes Metab Res Rev 38 (5), e3524 (2022)
   PUBMED   35107206
  REMARK    GeneRIF: A variation in SORBS1 is associated with type 2 diabetes
            and high-density lipoprotein cholesterol in Chinese population.
REFERENCE   3  (bases 1 to 7348)
  AUTHORS   Wang C and Cheng B.
  TITLE     MicroRNA miR-3646 promotes malignancy of lung adenocarcinoma cells
            by suppressing sorbin and SH3 domain-containing protein 1 via the
            c-Jun NH2-terminal kinase signaling pathway
  JOURNAL   Bioengineered 13 (3), 4869-4884 (2022)
   PUBMED   35196185
  REMARK    GeneRIF: MicroRNA miR-3646 promotes malignancy of lung
            adenocarcinoma cells by suppressing sorbin and SH3 domain-containing
            protein 1 via the c-Jun NH2-terminal kinase signaling pathway.
REFERENCE   4  (bases 1 to 7348)
  AUTHORS   Lu Z and Gao Y.
  TITLE     Screening differentially expressed genes between endometriosis and
            ovarian cancer to find new biomarkers for endometriosis
  JOURNAL   Ann Med 53 (1), 1377-1389 (2021)
   PUBMED   34409913
  REMARK    GeneRIF: Screening differentially expressed genes between
            endometriosis and ovarian cancer to find new biomarkers for
            endometriosis.
REFERENCE   5  (bases 1 to 7348)
  AUTHORS   Cho WC, Jang JE, Kim KH, Yoo BC and Ku JL.
  TITLE     SORBS1 serves a metastatic role via suppression of AHNAK in
            colorectal cancer cell lines
  JOURNAL   Int J Oncol 56 (5), 1140-1151 (2020)
   PUBMED   32319594
  REMARK    GeneRIF: SORBS1 serves a metastatic role via suppression of AHNAK in
            colorectal cancer cell lines.
REFERENCE   6  (bases 1 to 7348)
  AUTHORS   Baumann CA, Ribon V, Kanzaki M, Thurmond DC, Mora S, Shigematsu S,
            Bickel PE, Pessin JE and Saltiel AR.
  TITLE     CAP defines a second signalling pathway required for
            insulin-stimulated glucose transport
  JOURNAL   Nature 407 (6801), 202-207 (2000)
   PUBMED   11001060
REFERENCE   7  (bases 1 to 7348)
  AUTHORS   Asakura T, Nakanishi H, Sakisaka T, Takahashi K, Mandai K, Nishimura
            M, Sasaki T and Takai Y.
  TITLE     Similar and differential behaviour between the nectin-afadin-ponsin
            and cadherin-catenin systems during the formation and disruption of
            the polarized junctional alignment in epithelial cells
  JOURNAL   Genes Cells 4 (10), 573-581 (1999)
   PUBMED   10583506
REFERENCE   8  (bases 1 to 7348)
  AUTHORS   Mandai K, Nakanishi H, Satoh A, Takahashi K, Satoh K, Nishioka H,
            Mizoguchi A and Takai Y.
  TITLE     Ponsin/SH3P12: an l-afadin- and vinculin-binding protein localized
            at cell-cell and cell-matrix adherens junctions
  JOURNAL   J Cell Biol 144 (5), 1001-1017 (1999)
   PUBMED   10085297
REFERENCE   9  (bases 1 to 7348)
  AUTHORS   Ribon V, Herrera R, Kay BK and Saltiel AR.
  TITLE     A role for CAP, a novel, multifunctional Src homology 3
            domain-containing protein in formation of actin stress fibers and
            focal adhesions
  JOURNAL   J Biol Chem 273 (7), 4073-4080 (1998)
   PUBMED   9461600
REFERENCE   10  (bases 1 to 7348)
  AUTHORS   Ribon V, Printen JA, Hoffman NG, Kay BK and Saltiel AR.
  TITLE     A novel, multifuntional c-Cbl binding protein in insulin receptor
            signaling in 3T3-L1 adipocytes
  JOURNAL   Mol Cell Biol 18 (2), 872-879 (1998)
   PUBMED   9447983
COMMENT     ##Evidence-Data-START##
            CDS exon combination      :: AF356525.1 [ECO:0000331]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000371247.7/ ENSP00000360293.2
            RefSeq Select criteria    :: based on manual assertion
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157890.11 and AL158165.15.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 10, 2020 this sequence version replaced NM_001034954.2.
            Summary: This gene encodes a CBL-associated protein which functions
            in the signaling and stimulation of insulin. Mutations in this gene
            may be associated with human disorders of insulin resistance.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7348
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.1"
     gene            1..7348
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="sorbin and SH3 domain containing 1"
                     /db_xref="GeneID:10580"
                     /db_xref="HGNC:HGNC:14565"
                     /db_xref="MIM:605264"
     misc_feature    79..81
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="upstream in-frame stop codon"
     CDS             184..4062
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="isoform 3 is encoded by transcript variant 3;
                     ponsin; c-Cbl associated protein; Fas-ligand associated
                     factor 2; SH3 domain protein 5"
                     /codon_start=1
                     /product="sorbin and SH3 domain-containing protein 1
                     isoform 3"
                     /protein_id="NP_001030126.2"
                     /db_xref="CCDS:CCDS31255.1"
                     /db_xref="GeneID:10580"
                     /db_xref="HGNC:HGNC:14565"
                     /db_xref="MIM:605264"
                     /translation="MSSECDGGSKAVMNGLAPGSNGQDKATADPLRARSISAVKIIPVK
                     TVKNASGLVLPTDMDLTKICTGKGAVTLRASSSYRETPSSSPASPQETRQHESKPGLEP
                     EPSSADEWRLSSSADANGNAQPSSLAAKGYRSVHPNLPSDKSQDATSSSAAQPEVIVVP
                     LYLVNTDRGQEGTARPPTPLGPLGCVPTIPATASAASPLTFPTLDDFIPPHLQRWPHHS
                     QPARASGSFAPISQTPPSFSPPPPLVPPAPEDLRRVSEPDLTGAVSSTDSSPLLNEVSS
                     SLIGTDSQAFPSVSKPSSAYPSTTIVNPTIVLLQHNREQQKRLSSLSDPVSERRVGEQD
                     SAPTQEKPTSPGKAIEKRAKDDSRRVVKSTQDLSDVSMDEVGIPLRNTERSKDWYKTMF
                     KQIHKLNRDTPEENPYFPTYKFPELPEIQQTSEEDNPYTPTYQFPASTPSPKSEDDDSD
                     LYSPRYSFSEDTKSPLSVPRSKSEMSYIDGEKVVKRSATLPLPARSSSLKSSSERNDWE
                     PPDKKVDTRKYRAEPKSIYEYQPGKSSVLTNEKMSRDISPEEIDLKNEPWYKFFSELEF
                     GKPPPKKIWDYTPGDCSILPREDRKTNLDKDLSLCQTELEADLEKMETLNKAPSANVPQ
                     SSAISPTPEISSETPGYIYSSNFHAVKRESDGAPGDLTSLENERQIYKSVLEGGDIPLQ
                     GLSGLKRPSSSASTKDSESPRHFIPADYLESTEEFIRRRHDDKEKLLADQRRLKREQEE
                     ADIAARRHTGVIPTHHQFITNERFGDLLNIDDTAKRKSGSEMRPARAKFDFKAQTLKEL
                     PLQKGDIVYIYKQIDQNWYEGEHHGRVGIFPRTYIELLPPAEKAQPKKLTPVQVLEYGE
                     AIAKFNFNGDTQVEMSFRKGERITLLRQVDENWYEGRIPGTSRQGIFPITYVDVIKRPL
                     VKNPVDYMDLPFSSSPSRSATASPQFSSHSKLITPAPSSLPHSRRALSPEMHAVTSEWI
                     SLTVGVPGRRSLALTPPLPPLPEASIYNTDHLALSPRASPSLSLSLPHLSWSDRPTPRS
                     VASPLALPSPHKTYSLAPTSQASLHMNGDGGVHTPSSGIHQDSFLQLPLGSSDSVISQL
                     SDAFSSQSKRQPWREESGQYERKAERGAGERGPGGPKISKKSCLKPSDVVRCLSTEQRL
                     SDLNTPEESRPGKPLGSAFPGSEAEQTERHRGGEQAGRKAARRGGSQQPQAQQRRVTPD
                     RSQTSQDLFSYQALYSYIPQNDDELELRDGDIVDVMEKCDDGWFVGTSRRTKQFGTFPG
                     NYVKPLYL"
     misc_feature    184..270
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BX66.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    400..657
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BX66.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    427..429
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q62417; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    439..441
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    448..450
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    496..498
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    523..525
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    592..594
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    619..621
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    823..1008
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BX66.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    907..909
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    958..960
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    1135..1326
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BX66.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1204..1206
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    1213..1215
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q62417; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    1219..1221
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    1231..1233
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    1288..1290
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q62417; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    1303..1305
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q62417; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    1342..1344
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    1396..1785
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BX66.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1537..1539
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    1576..1578
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P84109; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    1588..1590
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    1597..1599
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    1615..1617
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    1624..1626
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    1789..1791
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphotyrosine, by ABL1.
                     /evidence=ECO:0000250|UniProtKB:Q62417; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    1849..1851
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    1990..1992
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    2008..2010
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q62417; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    2065..2133
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BX66.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2101..2103
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q62417; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    2143..2145
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphotyrosine, by ABL1.
                     /evidence=ECO:0000250|UniProtKB:Q62417; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    2176..2178
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9BX66.3);
                     phosphorylation site"
     misc_feature    2257..2331
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BX66.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2281..2283
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    2305..2307
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    2320..2322
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q62417; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    2371..2373
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    2386..2388
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    2476..2478
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    2767..2769
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    2950..2952
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    2992..2994
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    3013..3111
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BX66.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3016..3018
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    3040..3042
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q62417; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    3304..3375
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BX66.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3499..3633
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BX66.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3667..3873
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BX66.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3820..3822
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     misc_feature    3901..3903
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="Phosphotyrosine, by ABL1.
                     /evidence=ECO:0000250|UniProtKB:Q62417; propagated from
                     UniProtKB/Swiss-Prot (Q9BX66.3); phosphorylation site"
     regulatory      7321..7326
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="hexamer: AATAAA"
     polyA_site      7348
                     /gene="SORBS1"
                     /gene_synonym="CAP; FLAF2; R85FL; SH3D5; SH3P12; SORB1"
                     /note="major polyA site"
ORIGIN
        1 gtagtgcgag tggggcggac gcgcgcagcc cgcccgcccg gcgaccagca aggagttggc
       61 atcctttgga agagttcgtg aaagctttct gcccagagct cctggaccaa tgcatcttcc
      121 caccacctta aaccactgag cagttcagag ccccagttgc agacgacttg tcctgccacc
      181 accatgagtt ctgaatgtga tggtggttcc aaagctgtga tgaatggctt ggcacctggc
      241 agcaatgggc aagacaaagc aactgccgac cctttacgcg cacgctctat ttctgctgtt
      301 aaaatcattc ctgtgaagac agtgaaaaac gcctcaggcc tagttctccc tacagacatg
      361 gatcttacaa aaatctgcac tgggaaggga gcggtgactc tccgggcctc gtcttcctac
      421 agggaaaccc caagcagtag ccctgcgagc cctcaggaaa cccggcaaca cgaaagcaaa
      481 ccaggtctgg agccagagcc ttcttcagca gatgagtgga ggctttcttc cagtgctgat
      541 gccaatggaa atgcccagcc ctcttcactc gctgccaagg gctacagaag tgtgcatccc
      601 aaccttcctt ctgacaagtc ccaggatgcc acttcctcca gtgcagccca gccggaggta
      661 atagttgtcc ctctctacct ggttaatact gacagagggc aagaaggcac tgccagacct
      721 ccaacacctc tggggcctct tggctgcgtc cccacaatcc cagcgactgc ctctgccgcc
      781 tcacctctga ccttcccgac tctagatgat ttcattcccc ctcatctgca gaggtggccc
      841 caccacagcc agccagcccg cgcctctggc tcctttgccc ccattagcca gacgccacca
      901 tccttctcac caccacctcc gctggtccct cctgccccgg aggacctccg cagagtctcg
      961 gagcctgacc tcacgggagc tgtttcgagt accgattcca gtcctctact aaatgaagtt
     1021 tcttcttccc ttattggaac tgattcccaa gcctttccat cagttagcaa gccttcatcc
     1081 gcctatccct ccacaacgat tgtcaatcct actattgtgc tcttgcaaca caatcgagaa
     1141 cagcaaaaac gactcagtag cctttcagat cctgtctcag aaagaagagt gggagagcag
     1201 gactcagcac caacccagga aaaacccacc tcacctggca aggctattga aaaaagagca
     1261 aaggatgaca gtaggcgggt ggtgaagagc actcaggact taagcgatgt ttccatggat
     1321 gaagtgggca tcccactccg gaacactgag agatcaaaag actggtacaa gactatgttt
     1381 aaacagatcc acaaactgaa cagagacact cctgaagaaa acccttattt ccctacgtac
     1441 aaattccctg aacttcctga aatccagcaa acttccgaag aggacaatcc ttacactccc
     1501 acctaccagt ttcctgcatc tactcctagt cctaaatctg aagatgatga ttcagatctg
     1561 tactctccca gatactcatt ttctgaagac acaaaatctc ccctttctgt gcctcgctca
     1621 aaaagtgaga tgagctacat tgatggtgag aaggtagtca agaggtcggc cacactaccc
     1681 ctcccagccc gctcttcctc actgaagtca agctcagaaa gaaatgactg ggaaccccca
     1741 gataagaaag tagacacaag aaaatatcgt gcagagccca agagcattta cgaatatcag
     1801 cctggcaagt cttccgttct gaccaacgaa aagatgagtc gggatataag cccagaagag
     1861 atagatttaa agaatgaacc ttggtataaa ttcttttcgg aattggagtt tgggaaaccg
     1921 cctcccaaaa agatatggga ttatactcct ggagactgct ctatccttcc tagagaggat
     1981 agaaagacta atctagacaa agatctcagc ctctgccaga cagagttaga ggcagattta
     2041 gaaaaaatgg agacgcttaa taaagcaccc agtgcaaacg tgccacagag ctcagccatc
     2101 agccctactc cggaaatttc ttcagagact cctggatata tatattcttc caacttccat
     2161 gcagtgaaga gggaatcaga cggggctcct ggggatctca ctagcttgga gaatgagaga
     2221 caaatttata aaagtgtctt ggaaggtggt gacatccctc ttcagggcct gagtgggctc
     2281 aagcgaccat ccagctctgc ttccactaaa gattcagaat cgccaagaca ttttatacca
     2341 gctgattact tggaatccac ggaagaattt attcgaagac gtcatgatga taaagagaaa
     2401 cttttagcgg accagagacg acttaaacgc gagcaagaag aggctgatat tgcagctcga
     2461 cgccacacag gcgtcattcc gacgcaccat cagtttatca ctaatgagcg ctttggggac
     2521 ctcctcaata tagacgatac tgcaaaaagg aaatctgggt cagagatgag acctgccaga
     2581 gccaaatttg actttaaagc tcagacacta aaggagcttc ctctgcagaa gggagatatt
     2641 gtttacattt ataagcaaat tgatcagaac tggtatgaag gagaacacca cggccgggtg
     2701 ggaatcttcc cacgcaccta catcgagctt cttcctcctg ctgagaaggc acagcccaaa
     2761 aagttgacac cagtgcaggt tttggaatat ggagaagcta ttgctaagtt taactttaat
     2821 ggtgatacac aagtagaaat gtccttcaga aagggtgaga ggatcacact gctccggcag
     2881 gtagatgaga actggtacga agggaggatc ccggggacat cccgacaagg catcttcccc
     2941 atcacctacg tggatgtgat caagcgacca ctggtgaaaa accctgtgga ttacatggac
     3001 ctgcctttct cctcctcccc aagtcgcagt gccactgcaa gcccacagtt ttccagtcac
     3061 agcaagctca tcacgccagc cccctcatct ctgccccact cccgccgagc cctgtccccc
     3121 gagatgcacg ctgtcacctc tgagtggatc tcactgactg tgggggtccc aggcaggcgt
     3181 tctctggccc tgaccccacc cttgcctcct ctgccagagg cttctatcta taacactgac
     3241 cacctcgcct tgtcaccaag ggccagtccc tccctgtctc tcagcctccc ccatttgagt
     3301 tggtcagatc gtcccacccc acgatcagta gcttctccac tggccctacc ttccccacac
     3361 aaaacctact ccctagcacc tacttcccag gcctcccttc acatgaatgg agacggtggt
     3421 gtccacacgc catcttcagg catccaccaa gatagcttct tgcagctgcc gctggggagc
     3481 tctgatagtg tcatctccca gcttagtgat gcctttagca gccagagcaa gaggcagcca
     3541 tggcgcgaag agagtggaca atatgagagg aaagcagaga ggggggcagg cgaaagaggc
     3601 cctggtggac ccaagatctc taagaagagc tgcttgaagc cttcagacgt ggtcaggtgc
     3661 ctgagtactg aacagagact ctcagatctc aacacccctg aggagagccg gcccggcaag
     3721 cccctgggta gcgcttttcc aggaagtgag gctgagcaga cagagcggca tagaggtggc
     3781 gagcaggcgg ggaggaaagc tgctcggaga ggtgggagcc agcaacctca agcccagcag
     3841 cgaagagtca cccccgacag gagtcaaacc tcacaagatt tatttagcta tcaagcatta
     3901 tatagctata taccacagaa tgatgatgag ttggaactcc gcgatggaga tatcgttgat
     3961 gtcatggaaa aatgtgacga tggatggttt gttggtactt caagaaggac aaagcagttt
     4021 ggtacttttc caggcaacta tgtaaaacct ttgtatctat aagaagactg aaaaccatgg
     4081 agattatttt tattggagga ggaagcatca ttcatgaacc gatcttttta gttgagtcag
     4141 taggaaaatt aatacagtgg ataaagtaag aagcaaaaga cagggacaga gaagtgttgt
     4201 gtttaaaacc caagcctgtc taaggttact gtgtattaga cagggccgaa ctagtgtgct
     4261 gagcaaaaag aattgaagca aattgtattt acttagccgc ttctgggagc cacttcagcc
     4321 tttcccctcc cctccacttc ttgggtaatc tgacctgaag catagtccag gagcagagtt
     4381 agccagaaat gcctcctgct gccccagcct tagagagctc ccatctcaat cattgagcct
     4441 gaaggcttca agcccaagaa tgcaacaaga cccccagcct acatttctca gctcccctgg
     4501 agccagctga tcctgtaacg ctgctggagg tcagtctgag ctaccaagac tgtccctaga
     4561 caaaggtgga gtcccccaca ctgcccaaga ccaaatccct cactcaacct gctgaggtgt
     4621 ggatggggaa acagaggcaa aactgaggca cctgatgcat tcagcctgct gtgcagcagt
     4681 gccattgact gccctgatgt tcagagagaa acgcacacaa ggtttgccca tgagaattgg
     4741 ggagcagatg gccaagcaga taggttatgt ctgttttctg agtgatgaag tcaggaagcc
     4801 ctgtggctct ggaggccact tgtggttcat tcttttccca tatccttggc ttttagaaat
     4861 ggttaccttc aggacagtgc agctgcattt atcagagcac tattgctaag ttttcttttc
     4921 tggcttgtgt ttttctggga cagtttagaa ttgggaggcc tattctcata gaacaccaaa
     4981 aatgatgttc agtgattcat ttaacataca ccaatgtact ctggctgctg gggggacaac
     5041 cataagcaag acatgcccag ggtttgccgt ggctccagat ctactccctg taggagttca
     5101 aggatcacac aaacggtagt aaccagggtt gtgaatctga gtacaccctg gcaaggcttc
     5161 tcttcagact gaagcagcaa ttctgccact accagcagca accaggacgt ctgttctttg
     5221 tgggggccag atcagaagag agaggcccct gtgacgcccg ggctgcttgg tcacaactct
     5281 gtccaattca aggatgttta tcggcctctc ttagatcctg agtgagacaa atacagaaat
     5341 gacccattcc ctgcccacca gaaactcaga ggtgattggg gagactgaca caggaaaatg
     5401 aacttaatca agagagactg tgatatgtgc taagaagggt gtgagggagg gagagatgaa
     5461 ttttccctgg agggatccta gaaagcattg tcatattgcc atctccatta gctcactttt
     5521 aaacaactag ggtgctggaa gaacctttgt ctgagggtag ttcatagctg gaaatacttg
     5581 gaatattttc cagagtctct aaactctcat cttcccccac agatacacat ccaagctcac
     5641 aaataggagt agcaattcta ggtggtaggg ttgtgtacgg aacccctggc tgtctgcata
     5701 tatctcagaa ttaccccagg accattgtcc caaagtctag agtctttaca ggtaggcaaa
     5761 atttgttttc aatgcctgtg cctcagctgc tgtcacaaat acccatctta ggatcccatc
     5821 agcttcccat cccccaccag acagccacag taccctcact ttctccctat tgttctttca
     5881 aatcctgttc tcaggaaaga aactgccact aattcattca cactaaggtg taaatgattg
     5941 ataataggaa tgagttacct cttcccacag acatttgttt ttaagtatga cagagcaggg
     6001 ccttaatccc aagggaaaag gttatggaac tggagggggt gagctttctg ggtagaagga
     6061 gacttcctga atttccttaa aacccagtaa gagtaagacc tgttgttttg gaaggtctgc
     6121 tccaccatct aagagcactg tttttttttt tttgttgttg ttgttgtttt acggtctctg
     6181 agggaatata gtaaaaatgc atatgcacgt gcaatttgca cggcagcatt tcaccgattg
     6241 tggactgtat tggctaatgt gtttcctggt ctttagatgc aaaccattaa taacactatc
     6301 ttatctcata gttttttcag gggtgcttct tgattagtag ggaattttga acacctcttt
     6361 aaatacagct agaaaataaa accaatttgt aaagccacat ttgcatatga tgccagcctc
     6421 acgcatttgt atatctccag aaattcaggt atgcctcacc aatttgcccg tctttaataa
     6481 aatcttgtgt taaaatttgc atcacgtcgc cttcctatgt atgacgaaac aagaaacaga
     6541 gatttccaat tgctcttttg tcttcagaca tttagtaata taaagtacct atttttatgc
     6601 tgaaatgttt atacaggttt attaatagca agtgcaacta actggcggca tgccttgcaa
     6661 cacattttga tatattagcc atgcttccgg gtaaaggcaa gccccaaact ccttatcttt
     6721 tgcagtctct ctgggatcag taaaagaaaa aaaaaataat gtgcttaaga agtgggactg
     6781 taaatatgta tatttaactt tgtatagccc atgtacctac cttgtataga aaaataattt
     6841 taaaaatttg aatggaaggg ggtaaaggaa gtcatgaagt ttttttgcat ttttatttaa
     6901 atgaaggaat tccaaataac tcacctacag atttttagca caaaaatagc cattgtaaag
     6961 tgttaaaatt tacgataagt attctattgg ggaggaaagg taactctgat ctcagttaca
     7021 gttttttttt cctttttaat ttcattattt tgggtttttg gtttttgcag tcctatttat
     7081 ctgcagtcgt attaagtcct attgctagaa taggttacta caaaaaaggt tatattctga
     7141 aagaaaaata actgacatta tatataacca attaatttaa agtattgcca tttaaattac
     7201 acactgagag catgtcctat gcagacatag atttttctgt tcatttattt ttcttcattg
     7261 cagtggattg atttgataaa tagatgtgtt gaattactac atttgctgta catattattt
     7321 aataaacttt attcagaatt gcgtggca
//
LOCUS       NM_001034996            7136 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L14 (RPL14), transcript variant 1,
            mRNA.
ACCESSION   NM_001034996
VERSION     NM_001034996.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7136)
  AUTHORS   Zhang Z, Zhang Y, Qiu Y, Mo W and Yang Z.
  TITLE     Human/eukaryotic ribosomal protein L14 (RPL14/eL14) overexpression
            represses proliferation, migration, invasion and EMT process in
            nasopharyngeal carcinoma
  JOURNAL   Bioengineered 12 (1), 2175-2186 (2021)
   PUBMED   34057029
  REMARK    GeneRIF: Human/eukaryotic ribosomal protein L14 (RPL14/eL14)
            overexpression represses proliferation, migration, invasion and EMT
            process in nasopharyngeal carcinoma.
REFERENCE   2  (bases 1 to 7136)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 7136)
  AUTHORS   Fasci D, van Ingen H, Scheltema RA and Heck AJR.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   4  (bases 1 to 7136)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 7136)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   6  (bases 1 to 7136)
  AUTHORS   Reddy PH, Stockburger E, Gillevet P and Tagle DA.
  TITLE     Mapping and characterization of novel (CAG)n repeat cDNAs from adult
            human brain derived by the oligo capture method
  JOURNAL   Genomics 46 (2), 174-182 (1997)
   PUBMED   9417904
REFERENCE   7  (bases 1 to 7136)
  AUTHORS   Aoki M, Koranyi L, Riggs AC, Wasson J, Chiu KC, Vaxillaire M,
            Froguel P, Gough S, Liu L, Donis-Keller H et al.
  TITLE     Identification of trinucleotide repeat-containing genes in human
            pancreatic islets
  JOURNAL   Diabetes 45 (2), 157-164 (1996)
   PUBMED   8549859
REFERENCE   8  (bases 1 to 7136)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   9  (bases 1 to 7136)
  AUTHORS   Dave VP, Larche M, Rencher SD, Koop BF and Hurwitz JL.
  TITLE     Restricted usage of T-cell receptor V alpha sequence and
            variable-joining pairs after normal T-cell development and bone
            marrow transplantation
  JOURNAL   Hum Immunol 37 (3), 178-184 (1993)
   PUBMED   8244780
REFERENCE   10  (bases 1 to 7136)
  AUTHORS   Li SH, McInnis MG, Margolis RL, Antonarakis SE and Ross CA.
  TITLE     Novel triplet repeat containing genes in human brain: cloning,
            expression, and length polymorphisms
  JOURNAL   Genomics 16 (3), 572-579 (1993)
   PUBMED   8325628
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.217865.1,
            SRR7410570.217946.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396203.7/ ENSP00000379506.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from CD298951.1, BC029036.1, AC104186.2, BC005134.2 and
            BU686905.1.
            On May 17, 2019 this sequence version replaced NM_001034996.2.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L14E family of ribosomal proteins. It contains a basic
            region-leucine zipper (bZIP)-like domain. The protein is located in
            the cytoplasm. This gene contains a trinucleotide (GCT) repeat
            tract whose length is highly polymorphic; these triplet repeats
            result in a stretch of alanine residues in the encoded protein.
            Transcript variants utilizing alternative polyA signals and
            alternative 5'-terminal exons exist but all encode the same
            protein. As is typical for genes encoding ribosomal proteins, there
            are multiple processed pseudogenes of this gene dispersed through
            the genome. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7136
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.1"
     gene            1..7136
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
                     /note="ribosomal protein L14"
                     /db_xref="GeneID:9045"
                     /db_xref="HGNC:HGNC:10305"
                     /db_xref="MIM:617414"
     misc_feature    95..97
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
                     /note="upstream in-frame stop codon"
     CDS             134..781
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
                     /note="60S ribosomal protein L14"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL14"
                     /protein_id="NP_001030168.1"
                     /db_xref="CCDS:CCDS43070.1"
                     /db_xref="GeneID:9045"
                     /db_xref="HGNC:HGNC:10305"
                     /db_xref="MIM:617414"
                     /translation="MVFRRFVEVGRVAYVSFGPHAGKLVAIVDVIDQNRALVDGPCTQV
                     RRQAMPFKCMQLTDFILKFPHSAHQKYVRQAWQKADINTKWAATRWAKKIEARERKAKM
                     TDFDRFKVMKAKKMRNRIIKNEVKKLQKAALLKASPKKAPGTKGTAAAAAAAAAAKVPA
                     KKITAASKKAPAQKVPAQKATGQKAAPAPKAQKGQKAPAQKAPAPKASGKKA"
     misc_feature    368..370
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P50914.4); acetylation site"
     misc_feature    386..388
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P50914.4); acetylation site"
     misc_feature    548..550
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:17924679, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P50914.4); phosphorylation site"
     misc_feature    614..778
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
                     /note="propagated from UniProtKB/Swiss-Prot (P50914.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    644..703
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
                     /note="propagated from UniProtKB/Swiss-Prot (P50914.4);
                     Region: 4 X 5 AA tandem repeats of Q-K-A-[PAS]-X"
     misc_feature    710..727
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
                     /note="propagated from UniProtKB/Swiss-Prot (P50914.4);
                     Region: 2 X 3 AA tandem repeats of K-[GA]-Q"
     regulatory      800..805
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
                     /note="hexamer: AATAAA"
     polyA_site      825
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
                     /note="major polyA site"
     regulatory      899..904
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
                     /note="hexamer: AATAAA"
     polyA_site      917
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
                     /note="major polyA site"
     regulatory      5552..5557
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
                     /note="hexamer: AATAAA"
     polyA_site      5572
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
     regulatory      5682..5687
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
                     /note="hexamer: AATATA"
     polyA_site      5706
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
     regulatory      7111..7116
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
                     /note="hexamer: AATAAA"
     polyA_site      7136
                     /gene="RPL14"
                     /gene_synonym="CAG-ISL-7; CTG-B33; eL14; hRL14; L14; RL14"
ORIGIN
        1 cttctcgcct aacgccgcca acatggtgag tcttactgtt gcgggctccg gggccgtcga
       61 ccatgccgct cgacctccac ctccgctggg aagctgaggc gccaaacggc tcccagaggg
      121 tcccgggaag cgcatggtgt tcaggcgctt cgtggaggtt ggccgggtgg cctatgtctc
      181 ctttggacct catgccggaa aattggtcgc gattgtagat gttattgatc agaacagggc
      241 tttggtcgat ggaccttgca ctcaagtgag gagacaggcc atgcctttca agtgcatgca
      301 gctcactgat ttcatcctca agtttccgca cagtgcccac cagaagtatg tccgacaagc
      361 ctggcagaag gcagacatca atacaaaatg ggcagccaca cgatgggcca agaagattga
      421 agccagagaa aggaaagcca agatgacaga ttttgatcgt tttaaagtta tgaaggcaaa
      481 gaaaatgagg aacagaataa tcaagaatga agttaagaag cttcaaaagg cagctctcct
      541 gaaagcttct cccaaaaaag cacctggtac taagggtact gctgctgctg ctgctgctgc
      601 tgctgctgct aaagttccag caaaaaagat caccgccgcg agtaaaaagg ctccagccca
      661 gaaggttcct gcccagaaag ccacaggcca gaaagcagcg cctgctccaa aagctcagaa
      721 gggtcaaaaa gctccagccc agaaagcacc tgctccaaag gcatctggca agaaagcata
      781 agtggcaatc ataaaaagta ataaaggttc tttttgacct gttgacaaat gtatttaagc
      841 ctttggattt aaagcctgtt gaggctggag ttaggaggca gattgatagt aggattataa
      901 taaacattaa ataatcagtt cctttttttt tttttttttt tttgagatgg agtctcgttc
      961 tgttgctcag gccggactgc agtggcgcta tctcggctca ctgtaagttc cacctcccgg
     1021 gttcatgcca ttctcctgcc tcagcctcct gagcagctgg gactacaggt gcccgccacc
     1081 gcgcctggct aattttttgt atttttagta gagacggggt ttcaccgtgt tagccaggat
     1141 ggtctcgctc tcctgacctc gtgatccgcc cgcctcggcc tcccaaagtg ctaggattgc
     1201 aggcatgagc cgccgcgcct ggcctaaata atcagttctt taatctcact ctctgcccat
     1261 acttggatag gtagtgcaaa atcattgcag tcataattga tcatgtcatg agaaatcatg
     1321 ataacttaga acaccaagtg acacaagtga catttttttc ttatggtcac cttggcttca
     1381 gaacatcttt tttccttgta caaatatgtt tgccataaat aggtaaagtg acagcctctt
     1441 gatgctcaag agtctagcag atttatttta tttatttatt tttttttttt ggagacagag
     1501 tcttgctgtg ttgcccaggc tggagtgcag tggtgcgatc tcagctccct ccaccttccg
     1561 ggttcaagtg attctcctgc cttggcttcc caggtagctg ggactacagg cgcccaccac
     1621 catgcccagc taattttttt tgtagagact gggtttcact atgttggcca ggctggtttt
     1681 gaactcctga cctcgtgatc cgcctgtctc ggcctcccag agcgggggat tataggcatg
     1741 ggccactgca cttggccttt ttttgttttt ttgagacaga gtcttgatct tatcacccag
     1801 gctggagtgc agtggcacga tcttggctca gcgcaacctc tgcctcctgg gctcaagcgg
     1861 ttctcctgct cagccttctg agtagttggg actataggtg tgtgccacca cgtctggcta
     1921 gtttttgtat ttttagtgga gatggggttt caccatgttg gccatgctgg tctcgagctc
     1981 ctgacctcag gtgatacacc cgccttggcc tcccaaagtg ctggaattac aggtgtgagc
     2041 cactgtgccc ggcctgcaaa ttttcttata aaaagtaaac taggaaaata gggcaagtat
     2101 aaaaattgca ggttgagcat atttctaatc caaaaagctc taacctctga aactgagcta
     2161 tgacactaca atttaaaaat ccctagccta cccgcatggt gggttatggt caaaatacag
     2221 gtacacagca ctattcagtg tccctgagga agaaatagtt aaccttcagg gtacatgtat
     2281 atgaagcata aatgaatttc ctgtatagac ctaggtccca tccccaaagt gtcatgtata
     2341 tgcacttaac tccaacatca gaacacatct cgtcctaagt gtttcagata agagatactt
     2401 atcctgtgta tagtaggttg gacttctgtt tctctctacc acaagataca ggtaatttgg
     2461 ggcagtaaaa gatcctggat agatttaaaa atactacaaa gctgtacatg aaacaggatt
     2521 actttttttt ttttttttga gacagagcct tactcttgcc caggctggaa tgtagtggca
     2581 cgatctcagc tcactgcgac ctccacctcc caggttcaag ttgttctgcc tcagcctccc
     2641 aagtagcagg ggttaaatgc gtgtaccacc atgcccctct aatattgtat tagagatggg
     2701 gttttgccat gtcagccaga ctggtcttga actcctgacc tcaggtgatc tgtccgcctt
     2761 ggcctcccaa agtgctggga ttacaggcgt gagccaccgc ttctggccag gaatacattt
     2821 taaataaatt tgtttcctaa ccaaaagcta gcttcaggcg tcactggggt aaaggaaaaa
     2881 gcacattgat ttgcttgata ataggcaagt ggtatggtgt aataaggaaa atatggatga
     2941 tttcggatta cctgttctac tctgggaggt agagaattgt ctagagaaag tggcatctat
     3001 acctaaaata agaagaaggt ggtgtaaggg gaagaatgac acgagatagg aaataaacga
     3061 actgatagtg tagaggactg gctcgggacc acatcaagga agtaggttag tggttagatc
     3121 gtgtagggga acacgggaag ctactgaggg ttttttaaaa tggcgtgata tctcagattt
     3181 agatcattga actgttaaga ctgaatctta tgggatcaag actgggaatg ctcgggttgg
     3241 cagtatgaag tttggcagta atccaaggaa gtgacagtgg taatgccatt taggtggtct
     3301 tgatcatgca ttggactgca gaaataaggg agaaaacaat gtgtcagggt ttctggtttg
     3361 tacctctggt tcattggttg tgagggaaca tgaggcaggg taaagtttat ctaggtaaaa
     3421 tgagttagtt ttcatgtaga ctatctgggt gtatatgcaa agactgcaga caatctatac
     3481 taaaatcctg gctctgcctc ttgaaagcta tgtagtttag gcacatagtc aaaatccagt
     3541 ttcctcatct atgtggtacg cttcagagta gttaatcatg atatgtagtc cagtgactgg
     3601 ttcccttggt aagagctgtg ataatgacac aaggaggaga ggtttcagga cagacttggg
     3661 attcatgaat atgtaagtgg tcactgattc cccaggggta ggatgacaac aatcaagaga
     3721 cgaatagagg ttggaaagga gtcatgaggg gtgggaaact agcaggggca catggaagct
     3781 agggaaagaa ttttgcttga gatcgtcaaa gtgaggggaa gagggtagta agcaaaggag
     3841 aaatgttata tggggttcgg aggttttgtg tttgtaaatc tggagtgatg ggcatgttca
     3901 aatgcttctg ggaaaggagc taataggaga gaaacttagc ccttcgaaaa acaggaaggg
     3961 atggatccta ggggagagga ggaaggattg gctttagagg aaagatgtcc tttacgtgag
     4021 gaaaaggaag aaaaggtggg tttagatact aaatctgtag gtttgctgtt aggaaattaa
     4081 ggacttttca cctttatctc tgaaatttct ctggagttag caaggcaagg tcatacactg
     4141 agaaggaggg atgaggcagt gtagatttgc agacatacag gttgtaattc cttatggagg
     4201 aaaggggaga gcacttttgt cagactgcct gtggctttga gagccctttg gctacagtcc
     4261 atgaggtgct cagaggatga gaaagcttca gggtagaagc agtattcaag ctgcacctag
     4321 aaaacagtgc aatacagaac agtggaaatt ggaaattcca atcttggaat ctctaggaaa
     4381 gtaactgagg catacgatgc ctgaaaagga gtagaaaata aaattaataa ggtgggacca
     4441 tatgataaga gatttgaggc cgggcactgt ggctcacacc tgtaatccca gcactatggg
     4501 aggctgaggc aggcggatca cctgaggtca ggggtccgag accagcttgg ccaacatggt
     4561 gaaaccccgt ctttactaaa aatacaaaaa ttagacaggc atggtggagc atgcctgtaa
     4621 tcccagctac ttgggaggct gaggcgggag aatcgcttga acccaggagg tggaggttgc
     4681 agtgagctga cattacgcca tagcactcca gcttgggcga cagagggaga ctctgtctca
     4741 aaaaaaagac ttgagcaagg gcgtaatctt caggaaggtc agtctggtag catagtgtgg
     4801 attgggttgg gggatgggga aggagagcag aaaattattg aaatatccag gtgcataaaa
     4861 gtctactttg attatggaga actacacact tgttcagtca ccctcattgg agacggggga
     4921 tggcatacga aaagaatgct gatttcaggc tgggcacggt ggctcatgcc tttaatccca
     4981 gcactttggg aggctgaggc aggtgaatca ggggttcaag accagcctgg ccaatgtggt
     5041 gaaaccctgt ctctactaaa aatcaaaaaa aaaaaaaaaa aaatggctga tttcagagtc
     5101 atattcaggt ttaaattctg tcattcagcc caaactcatt actttatgtt acttatggga
     5161 acctcatcta aaaagcaagg atcctgatac ctgcctcata ttgtggcaag gatcaaatga
     5221 gtcaaataag atgcttgtga aagtgaggac aggatctatc ctcaacacct agtgcaattc
     5281 tttttacaca ttaggtactt agtaatttgg gttgaattgt gttgaactaa cctggcggta
     5341 taggcaaaat ttggaagttt ggttttcaga aagtcttgac ttcctcttat ctctaagtaa
     5401 ttggcatgtc ctctaattca tattttcccc cctcatctgt tgggtgaaat actgtttatc
     5461 ctttagtact aaaattaaaa gttacctcat tcttctagct agctgatttt tttttttaat
     5521 ctaggctaaa tcatgaatac atttacattt aaataaaata ttacagttga aagtaaaggg
     5581 tcctttcatt atctccactt ccaattccag taccctgtgt aaaggaaaac atatacatct
     5641 tgcagacatt ttttaatgtg tttgtaatat aggtacataa aaatatatgt gcttgtttta
     5701 agcaaatttc atactctgca acttgccttt tttcttaata cgttctggag atcttatcta
     5761 gtcagcctct aaattagagt tcttcagaaa accaatggga tggatgaatg gactcaagag
     5821 attgtggaaa ccaagaagtc ccacaaaata ccatctgcaa gctggagaac caggaaagct
     5881 gattgggata attcaaactg ggtccagagg cctgagaact ggaagggcca gtggtgtaag
     5941 tcctggtctg agaccaaagg cttgatcaag aatcaagagc atcaacaacc gagggcagga
     6001 gaggatgggt ttcccagatt aaaaaagcaa attcacgctt cctcccccat tttgttctat
     6061 ttgaaccttc cgtggatagg atgatgccca cctgcattgg tgaaggtcat ctttactcag
     6121 tctacccatt caaatgccaa tctcttccag aggtaatctc acagatttag aaatgtttcg
     6181 ccagctagct gaacaatcct tagcccagtc aagtgcacac ataaccataa caattcttac
     6241 taatctacct cattcttttt tatcttctgc ataataatcc acaacatgaa tgttcacgtt
     6301 tgacctctat tgatagacat ttcggatgat gccaatttct ttttctggtt tttgtttttt
     6361 gtgtgtgtgt gttttttttt tttttgagac gaggtcttgc tctcgcccag gctggagtgc
     6421 agtgggtggg gtgatctcgg ctcactgcaa cctctgcctc ccgggttcaa gcagttctcc
     6481 tgcctcaacc tcctgagtag ctgggattac aggagtgtgc caccacacct ggctaatgtt
     6541 tgtattgtta gtagatacag ggtttcaccc tgttagccag gatggtggat gggcatttga
     6601 atgggtagac tgagtgatcc tgacctcgtg atccactccc cagtctccca aagtactggg
     6661 attacaggcg tgagccacgg caccaggccc tctttttcta tttaaacagt gcttccgtga
     6721 atgtccttgt gtacacctcc ttctgtacac aatgatgttt atctgatgca cattgccaat
     6781 cagtgcactt gctggattga agaatgtgag tgtttgtatc actctttcag taggctgtac
     6841 caatttagac ttgctctacc aatttagatt tccatcagca gtaaacaaag acattcctgc
     6901 ctggcagtct tgaactcctg ctattatctc ttaaattttt gccagtgtgt gaaaagtagt
     6961 atcttacttt aacttgtatt ttcctggtcc aatagtgcac taaatgcccg agttctgtat
     7021 ttattctatt tggatagcca ttagatagcc attaagtcca ctcatagagt tattttaaat
     7081 gttttccttt agtttccaac cacattttca aataaaattt agaattagct tgtcaa
//
LOCUS       NM_001035              16583 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens ryanodine receptor 2 (RYR2), mRNA.
ACCESSION   NM_001035
VERSION     NM_001035.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 16583)
  AUTHORS   Tian S, Zhong X, Wang H, Wei J, Guo W, Wang R, Paul Estillore J,
            Napolitano C, Duff HH, Ilhan E, Knight LM, Lloyd MS, Roberts JD,
            Priori SG and Chen SRW.
  TITLE     RyR2 C-terminal truncating variants identified in patients with
            arrhythmic phenotypes exert a dominant negative effect through
            formation of wildtype-truncation heteromers
  JOURNAL   Biochem J 480 (17), 1379-1395 (2023)
   PUBMED   37492947
  REMARK    GeneRIF: RyR2 C-terminal truncating variants identified in patients
            with arrhythmic phenotypes exert a dominant negative effect through
            formation of wildtype-truncation heteromers.
REFERENCE   2  (bases 1 to 16583)
  AUTHORS   Sun Q, Wang F, Zheng R, Xie Z, Jia L and Li D.
  TITLE     [Clinical and genetic analysis of five children with
            Catecholaminergic polymorphic ventricular tachycardia due to
            variants of RYR2 gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (8), 960-965 (2023)
   PUBMED   37532495
  REMARK    GeneRIF: [Clinical and genetic analysis of five children with
            Catecholaminergic polymorphic ventricular tachycardia due to
            variants of RYR2 gene].
REFERENCE   3  (bases 1 to 16583)
  AUTHORS   Nikolaienko R, Bovo E, Kahn D, Gracia R, Jamrozik T and Zima AV.
  TITLE     Cysteines 1078 and 2991 cross-linking plays a critical role in redox
            regulation of cardiac ryanodine receptor (RyR)
  JOURNAL   Nat Commun 14 (1), 4498 (2023)
   PUBMED   37495581
  REMARK    GeneRIF: Cysteines 1078 and 2991 cross-linking plays a critical role
            in redox regulation of cardiac ryanodine receptor (RyR). Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 16583)
  AUTHORS   Zhou Y, Huang W, Liu L, Li A, Jiang C, Zhou R, Wang J, Tan X, Huang
            CL and Zhang Y.
  TITLE     Patient-specific induced pluripotent stem cell properties implicate
            Ca2+-homeostasis in clinical arrhythmia associated with combined
            heterozygous RYR2 and SCN10A variants
  JOURNAL   Philos Trans R Soc Lond B Biol Sci 378 (1879), 20220175 (2023)
   PUBMED   37122207
  REMARK    GeneRIF: Patient-specific induced pluripotent stem cell properties
            implicate Ca[2+]-homeostasis in clinical arrhythmia associated with
            combined heterozygous RYR2 and SCN10A variants.
REFERENCE   5  (bases 1 to 16583)
  AUTHORS   Meyers MB, Pickel VM, Sheu SS, Sharma VK, Scotto KW and Fishman GI.
  TITLE     Association of sorcin with the cardiac ryanodine receptor
  JOURNAL   J Biol Chem 270 (44), 26411-26418 (1995)
   PUBMED   7592856
REFERENCE   6  (bases 1 to 16583)
  AUTHORS   Otsu K, Fujii J, Periasamy M, Difilippantonio M, Uppender M, Ward DC
            and MacLennan DH.
  TITLE     Chromosome mapping of five human cardiac and skeletal muscle
            sarcoplasmic reticulum protein genes
  JOURNAL   Genomics 17 (2), 507-509 (1993)
   PUBMED   8406504
REFERENCE   7  (bases 1 to 16583)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301725
REFERENCE   8  (bases 1 to 16583)
  AUTHORS   Napolitano,C., Mazzanti,A., Bloise,R. and Priori,S.G.
  TITLE     Catecholaminergic Polymorphic Ventricular Tachycardia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301466
REFERENCE   9  (bases 1 to 16583)
  AUTHORS   McNally,E., MacLeod,H. and Dellefave-Castillo,L.
  TITLE     Arrhythmogenic Right Ventricular Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301310
REFERENCE   10  (bases 1 to 16583)
  AUTHORS   Otsu K, Willard HF, Khanna VK, Zorzato F, Green NM and MacLennan DH.
  TITLE     Molecular cloning of cDNA encoding the Ca2+ release channel
            (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum
  JOURNAL   J Biol Chem 265 (23), 13472-13483 (1990)
   PUBMED   2380170
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X98330.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000366574.7/ ENSP00000355533.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL391809.21, X98330.1,
            AL442065.11, AL365332.9, AL359924.13 and AI218003.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001035.2.
            Summary: This gene encodes a ryanodine receptor found in cardiac
            muscle sarcoplasmic reticulum. The encoded protein is one of the
            components of a calcium channel, composed of a tetramer of the
            ryanodine receptor proteins and a tetramer of FK506 binding protein
            1B proteins, that supplies calcium to cardiac muscle. Mutations in
            this gene are associated with stress-induced polymorphic
            ventricular tachycardia and arrhythmogenic right ventricular
            dysplasia. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..16583
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q43"
     gene            1..16583
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="ryanodine receptor 2"
                     /db_xref="GeneID:6262"
                     /db_xref="HGNC:HGNC:10484"
                     /db_xref="MIM:180902"
     CDS             339..15242
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="cardiac muscle ryanodine receptor-calcium release
                     channel; cardiac-type ryanodine receptor; islet-type
                     ryanodine receptor; kidney-type ryanodine receptor; type 2
                     ryanodine receptor; ryanodine receptor 2 (cardiac)"
                     /codon_start=1
                     /product="ryanodine receptor 2"
                     /protein_id="NP_001026.2"
                     /db_xref="CCDS:CCDS55691.1"
                     /db_xref="GeneID:6262"
                     /db_xref="HGNC:HGNC:10484"
                     /db_xref="MIM:180902"
                     /translation="MADGGEGEDEIQFLRTDDEVVLQCTATIHKEQQKLCLAAEGFGNR
                     LCFLESTSNSKNVPPDLSICTFVLEQSLSVRALQEMLANTVEKSEGQVDVEKWKFMMKT
                     AQGGGHRTLLYGHAILLRHSYSGMYLCCLSTSRSSTDKLAFDVGLQEDTTGEACWWTIH
                     PASKQRSEGEKVRVGDDLILVSVSSERYLHLSYGNGSLHVDAAFQQTLWSVAPISSGSE
                     AAQGYLIGGDVLRLLHGHMDECLTVPSGEHGEEQRRTVHYEGGAVSVHARSLWRLETLR
                     VAWSGSHIRWGQPFRLRHVTTGKYLSLMEDKNLLLMDKEKADVKSTAFTFRSSKEKLDV
                     GVRKEVDGMGTSEIKYGDSVCYIQHVDTGLWLTYQSVDVKSVRMGSIQRKAIMHHEGHM
                     DDGISLSRSQHEESRTARVIRSTVFLFNRFIRGLDALSKKAKASTVDLPIESVSLSLQD
                     LIGYFHPPDEHLEHEDKQNRLRALKNRQNLFQEEGMINLVLECIDRLHVYSSAAHFADV
                     AGREAGESWKSILNSLYELLAALIRGNRKNCAQFSGSLDWLISRLERLEASSGILEVLH
                     CVLVESPEALNIIKEGHIKSIISLLDKHGRNHKVLDVLCSLCVCHGVAVRSNQHLICDN
                     LLPGRDLLLQTRLVNHVSSMRPNIFLGVSEGSAQYKKWYYELMVDHTEPFVTAEATHLR
                     VGWASTEGYSPYPGGGEEWGGNGVGDDLFSYGFDGLHLWSGCIARTVSSPNQHLLRTDD
                     VISCCLDLSAPSISFRINGQPVQGMFENFNIDGLFFPVVSFSAGIKVRFLLGGRHGEFK
                     FLPPPGYAPCYEAVLPKEKLKVEHSREYKQERTYTRDLLGPTVSLTQAAFTPIPVDTSQ
                     IVLPPHLERIREKLAENIHELWVMNKIELGWQYGPVRDDNKRQHPCLVEFSKLPEQERN
                     YNLQMSLETLKTLLALGCHVGISDEHAEDKVKKMKLPKNYQLTSGYKPAPMDLSFIKLT
                     PSQEAMVDKLAENAHNVWARDRIRQGWTYGIQQDVKNRRNPRLVPYTLLDDRTKKSNKD
                     SLREAVRTLLGYGYNLEAPDQDHAARAEVCSGTGERFRIFRAEKTYAVKAGRWYFEFET
                     VTAGDMRVGWSRPGCQPDQELGSDERAFAFDGFKAQRWHQGNEHYGRSWQAGDVVGCMV
                     DMNEHTMMFTLNGEILLDDSGSELAFKDFDVGDGFIPVCSLGVAQVGRMNFGKDVSTLK
                     YFTICGLQEGYEPFAVNTNRDITMWLSKRLPQFLQVPSNHEHIEVTRIDGTIDSSPCLK
                     VTQKSFGSQNSNTDIMFYRLSMPIECAEVFSKTVAGGLPGAGLFGPKNDLEDYDADSDF
                     EVLMKTAHGHLVPDRVDKDKEATKPEFNNHKDYAQEKPSRLKQRFLLRRTKPDYSTSHS
                     ARLTEDVLADDRDDYDFLMQTSTYYYSVRIFPGQEPANVWVGWITSDFHQYDTGFDLDR
                     VRTVTVTLGDEKGKVHESIKRSNCYMVCAGESMSPGQGRNNNGLEIGCVVDAASGLLTF
                     IANGKELSTYYQVEPSTKLFPAVFAQATSPNVFQFELGRIKNVMPLSAGLFKSEHKNPV
                     PQCPPRLHVQFLSHVLWSRMPNQFLKVDVSRISERQGWLVQCLDPLQFMSLHIPEENRS
                     VDILELTEQEELLKFHYHTLRLYSAVCALGNHRVAHALCSHVDEPQLLYAIENKYMPGL
                     LRAGYYDLLIDIHLSSYATARLMMNNEYIVPMTEETKSITLFPDENKKHGLPGIGLSTS
                     LRPRMQFSSPSFVSISNECYQYSPEFPLDILKSKTIQMLTEAVKEGSLHARDPVGGTTE
                     FLFVPLIKLFYTLLIMGIFHNEDLKHILQLIEPSVFKEAATPEEESDTLEKELSVDDAK
                     LQGAGEEEAKGGKRPKEGLLQMKLPEPVKLQMCLLLQYLCDCQVRHRIEAIVAFSDDFV
                     AKLQDNQRFRYNEVMQALNMSAALTARKTKEFRSPPQEQINMLLNFKDDKSECPCPEEI
                     RDQLLDFHEDLMTHCGIELDEDGSLDGNSDLTIRGRLLSLVEKVTYLKKKQAEKPVESD
                     SKKSSTLQQLISETMVRWAQESVIEDPELVRAMFVLLHRQYDGIGGLVRALPKTYTING
                     VSVEDTINLLASLGQIRSLLSVRMGKEEEKLMIRGLGDIMNNKVFYQHPNLMRALGMHE
                     TVMEVMVNVLGGGESKEITFPKMVANCCRFLCYFCRISRQNQKAMFDHLSYLLENSSVG
                     LASPAMRGSTPLDVAAASVMDNNELALALREPDLEKVVRYLAGCGLQSCQMLVSKGYPD
                     IGWNPVEGERYLDFLRFAVFCNGESVEENANVVVRLLIRRPECFGPALRGEGGNGLLAA
                     MEEAIKIAEDPSRDGPSPNSGSSKTLDTEEEEDDTIHMGNAIMTFYSALIDLLGRCAPE
                     MHLIHAGKGEAIRIRSILRSLIPLGDLVGVISIAFQMPTIAKDGNVVEPDMSAGFCPDH
                     KAAMVLFLDRVYGIEVQDFLLHLLEVGFLPDLRAAASLDTAALSATDMALALNRYLCTA
                     VLPLLTRCAPLFAGTEHHASLIDSLLHTVYRLSKGCSLTKAQRDSIEVCLLSICGQLRP
                     SMMQHLLRRLVFDVPLLNEHAKMPLKLLTNHYERCWKYYCLPGGWGNFGAASEEELHLS
                     RKLFWGIFDALSQKKYEQELFKLALPCLSAVAGALPPDYMESNYVSMMEKQSSMDSEGN
                     FNPQPVDTSNITIPEKLEYFINKYAEHSHDKWSMDKLANGWIYGEIYSDSSKVQPLMKP
                     YKLLSEKEKEIYRWPIKESLKTMLAWGWRIERTREGDSMALYNRTRRISQTSQVSVDAA
                     HGYSPRAIDMSNVTLSRDLHAMAEMMAENYHNIWAKKKKMELESKGGGNHPLLVPYDTL
                     TAKEKAKDREKAQDILKFLQINGYAVSRGFKDLELDTPSIEKRFAYSFLQQLIRYVDEA
                     HQYILEFDGGSRGKGEHFPYEQEIKFFAKVVLPLIDQYFKNHRLYFLSAASRPLCSGGH
                     ASNKEKEMVTSLFCKLGVLVRHRISLFGNDATSIVNCLHILGQTLDARTVMKTGLESVK
                     SALRAFLDNAAEDLEKTMENLKQGQFTHTRNQPKGVTQIINYTTVALLPMLSSLFEHIG
                     QHQFGEDLILEDVQVSCYRILTSLYALGTSKSIYVERQRSALGECLAAFAGAFPVAFLE
                     THLDKHNIYSIYNTKSSRERAALSLPTNVEDVCPNIPSLEKLMEEIVELAESGIRYTQM
                     PHVMEVILPMLCSYMSRWWEHGPENNPERAEMCCTALNSEHMNTLLGNILKIIYNNLGI
                     DEGAWMKRLAVFSQPIINKVKPQLLKTHFLPLMEKLKKKAATVVSEEDHLKAEARGDMS
                     EAELLILDEFTTLARDLYAFYPLLIRFVDYNRAKWLKEPNPEAEELFRMVAEVFIYWSK
                     SHNFKREEQNFVVQNEINNMSFLITDTKSKMSKAAVSDQERKKMKRKGDRYSMQTSLIV
                     AALKRLLPIGLNICAPGDQELIALAKNRFSLKDTEDEVRDIIRSNIHLQGKLEDPAIRW
                     QMALYKDLPNRTDDTSDPEKTVERVLDIANVLFHLEQKSKRVGRRHYCLVEHPQRSKKA
                     VWHKLLSKQRKRAVVACFRMAPLYNLPRHRAVNLFLQGYEKSWIETEEHYFEDKLIEDL
                     AKPGAEPPEEDEGTKRVDPLHQLILLFSRTALTEKCKLEEDFLYMAYADIMAKSCHDEE
                     DDDGEEEVKSFEEKEMEKQKLLYQQARLHDRGAAEMVLQTISASKGETGPMVAATLKLG
                     IAILNGGNSTVQQKMLDYLKEKKDVGFFQSLAGLMQSCSVLDLNAFERQNKAEGLGMVT
                     EEGSGEKVLQDDEFTCDLFRFLQLLCEGHNSDFQNYLRTQTGNNTTVNIIISTVDYLLR
                     VQESISDFYWYYSGKDVIDEQGQRNFSKAIQVAKQVFNTLTEYIQGPCTGNQQSLAHSR
                     LWDAVVGFLHVFAHMQMKLSQDSSQIELLKELMDLQKDMVVMLLSMLEGNVVNGTIGKQ
                     MVDMLVESSNNVEMILKFFDMFLKLKDLTSSDTFKEYDPDGKGVISKRDFHKAMESHKH
                     YTQSETEFLLSCAETDENETLDYEEFVKRFHEPAKDIGFNVAVLLTNLSEHMPNDTRLQ
                     TFLELAESVLNYFQPFLGRIEIMGSAKRIERVYFEISESSRTQWEKPQVKESKRQFIFD
                     VVNEGGEKEKMELFVNFCEDTIFEMQLAAQISESDLNERSANKEESEKERPEEQGPRMA
                     FFSILTVRSALFALRYNILTLMRMLSLKSLKKQMKKVKKMTVKDMVTAFFSSYWSIFMT
                     LLHFVASVFRGFFRIICSLLLGGSLVEGAKKIKVAELLANMPDPTQDEVRGDGEEGERK
                     PLEAALPSEDLTDLKELTEESDLLSDIFGLDLKREGGQYKLIPHNPNAGLSDLMSNPVP
                     MPEVQEKFQEQKAKEEEKEEKEETKSEPEKAEGEDGEKEEKAKEDKGKQKLRQLHTHRY
                     GEPEVPESAFWKKIIAYQQKLLNYFARNFYNMRMLALFVAFAINFILLFYKVSTSSVVE
                     GKELPTRSSSENAKVTSLDSSSHRIIAVHYVLEESSGYMEPTLRILAILHTVISFFCII
                     GYYCLKVPLVIFKREKEVARKLEFDGLYITEQPSEDDIKGQWDRLVINTQSFPNNYWDK
                     FVKRKVMDKYGEFYGRDRISELLGMDKAALDFSDAREKKKPKKDSSLSAVLNSIDVKYQ
                     MWKLGVVFTDNSFLYLAWYMTMSVLGHYNNFFFAAHLLDIAMGFKTLRTILSSVTHNGK
                     QLVLTVGLLAVVVYLYTVVAFNFFRKFYNKSEDGDTPDMKCDDMLTCYMFHMYVGVRAG
                     GGIGDEIEDPAGDEYEIYRIIFDITFFFFVIVILLAIIQGLIIDAFGELRDQQEQVKED
                     METKCFICGIGNDYFDTVPHGFETHTLQEHNLANYLFFLMYLINKDETEHTGQESYVWK
                     MYQERCWEFFPAGDCFRKQYEDQLN"
     misc_feature    2895..9113
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92736.3);
                     Region: 4 X approximate repeats"
     misc_feature    4359..4361
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:E9Q401; propagated from
                     UniProtKB/Swiss-Prot (Q92736.3); phosphorylation site"
     misc_feature    5904..6011
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92736.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5943..5945
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B0LPN4; propagated from
                     UniProtKB/Swiss-Prot (Q92736.3); phosphorylation site"
     misc_feature    6429..6431
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000250|UniProtKB:E9Q401; propagated from
                     UniProtKB/Swiss-Prot (Q92736.3); phosphorylation site"
     misc_feature    7398..7475
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92736.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    7443..7445
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:E9Q401; propagated from
                     UniProtKB/Swiss-Prot (Q92736.3); phosphorylation site"
     misc_feature    8427..8429
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:B0LPN4; propagated from
                     UniProtKB/Swiss-Prot (Q92736.3); phosphorylation site"
     misc_feature    8727..8729
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:E9Q401; propagated from
                     UniProtKB/Swiss-Prot (Q92736.3); phosphorylation site"
     misc_feature    8760..8762
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="Phosphoserine, by CaMK2D and PKA.
                     /evidence=ECO:0000269|PubMed:10830164,
                     ECO:0000269|PubMed:20056922; propagated from
                     UniProtKB/Swiss-Prot (Q92736.3); phosphorylation site"
     misc_feature    8769..8771
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:E9Q401; propagated from
                     UniProtKB/Swiss-Prot (Q92736.3); phosphorylation site"
     misc_feature    8778..8780
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="Phosphoserine, by CaMK2D.
                     /evidence=ECO:0000269|PubMed:20056922; propagated from
                     UniProtKB/Swiss-Prot (Q92736.3); phosphorylation site"
     misc_feature    9177..9179
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:E9Q401; propagated from
                     UniProtKB/Swiss-Prot (Q92736.3); phosphorylation site"
     misc_feature    11079..11168
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92736.3);
                     Region: Interaction with CALM.
                     /evidence=ECO:0000269|PubMed:18650434"
     misc_feature    12966..13025
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92736.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    13182..13244
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92736.3);
                     transmembrane region"
     misc_feature    13581..13739
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92736.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    13848..13910
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92736.3);
                     transmembrane region"
     misc_feature    14076..14138
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92736.3);
                     transmembrane region"
     misc_feature    14526..14588
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92736.3);
                     transmembrane region"
     misc_feature    14643..14705
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92736.3);
                     transmembrane region"
     misc_feature    14886..14948
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92736.3);
                     transmembrane region"
     regulatory      16565..16570
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="hexamer: ATTAAA"
     polyA_site      16583
                     /gene="RYR2"
                     /gene_synonym="ARVC2; ARVD2; RyR; RYR-2; VACRDS; VTSIP"
                     /note="major polyA site"
ORIGIN
        1 acttgctcgg aggagccggg gccgagcgga ccgccggctg caggcagcga gcgcggctgg
       61 gctgcggggc tgcttccccg cgtcctccgg gcccgggccg ccctcctccc gcacagtgcg
      121 gagcagggag gccccgcgcc tcgaccaccc gcgcccgagc gtccgcgcct cctcctccgc
      181 tctgcaggcg gggaccgccc ggcgctcggc acccggcagc gcggccccct ccagcccccg
      241 gctcccggca gcagaagcag aaggcagcgc caggggccgc cgccgccgcc gagctccgcg
      301 gggctcggga gccggccccg gcgaggaggc gcggaaccat ggccgatggg ggcgagggcg
      361 aagacgagat ccagttcctg cgaactgatg atgaagtggt tctgcagtgc accgcaacca
      421 tccacaaaga acaacagaag ctatgcttgg cagcagaagg atttggcaac agactttgtt
      481 tcttggagtc cacttccaat tccaagaatg tgcccccaga cctctccatc tgcacctttg
      541 tgctggagca gtccctctct gtccgggcgc tgcaggagat gctggctaac accgtggaga
      601 aatcagaagg gcaagttgat gtggaaaaat ggaaattcat gatgaagact gctcaaggtg
      661 gtggtcatcg aacactcctc tacggacatg ccatattgct gcgccattcc tatagtggca
      721 tgtatctgtg ctgcctgtcc acctcccggt cttcaactga taagctggct tttgatgttg
      781 gcttgcaaga ggacaccaca ggggaggctt gttggtggac catacaccct gcctctaagc
      841 agcgatcaga aggagaaaaa gtacgagttg gagatgacct catcttagtt agcgtgtcct
      901 ctgaaaggta cttgcacttg tcttatggca acggcagctt acacgtggat gccgctttcc
      961 agcagactct ctggagcgtg gccccaatca gctcaggaag tgaggcagcc caagggtatc
     1021 tcattggtgg tgatgtcctc aggttgctgc atggacacat ggacgagtgt ctcactgtcc
     1081 cttcaggaga acatggtgaa gagcagcgga gaactgttca ttatgaaggt ggcgctgtgt
     1141 ctgttcatgc acgttccctt tggagactag agacgctaag agttgcgtgg agtggaagcc
     1201 acataagatg gggacagcca ttccgactac gccatgtcac aacaggaaaa tacttgagtc
     1261 tcatggaaga caaaaacctt ctactcatgg acaaagagaa agctgatgta aaatcaacag
     1321 catttacctt ccggtcttcc aaggaaaaat tggatgtagg ggtgagaaaa gaagtagatg
     1381 gcatgggaac atctgaaata aaatacggtg actcagtatg ctatatacaa catgtagaca
     1441 caggcctatg gcttacttac cagtctgtgg acgtgaaatc cgtgagaatg ggatctatac
     1501 aacgtaaggc tattatgcat catgaaggcc acatggatga tggcataagt ttgtcgagat
     1561 cccagcatga agaatcacgc acagcccgag ttatccggag cacagtcttc cttttcaata
     1621 gatttataag gggccttgat gctctcagca agaaagcgaa ggcttccaca gtcgatttgc
     1681 ctatagagtc cgtaagccta agtctgcagg atctcattgg ctacttccac cccccagatg
     1741 agcatttaga gcatgaagac aaacagaaca gactacgagc cctgaagaat cggcaaaatc
     1801 tcttccagga agagggaatg atcaacctcg tgcttgagtg catagaccgt ttgcacgtct
     1861 acagcagtgc agcacacttt gctgatgttg ctgggcgaga agcaggagag tcttggaaat
     1921 ccattctgaa ttctctgtat gagttgctgg cggctctaat tagaggaaat cgtaaaaact
     1981 gtgctcaatt ttctggctcc ctcgactggt tgatcagcag attggaaaga ctggaagctt
     2041 cttcaggcat tctggaagtt ttacactgtg ttttagtaga aagtccagaa gctctaaata
     2101 ttattaaaga aggacatatt aaatctatta tctcactttt agacaaacat ggaagaaatc
     2161 acaaggttct ggatgtcttg tgctcactct gtgtttgcca cggggttgca gtccgttcta
     2221 accagcatct catctgtgac aatctcctac caggaagaga cttgttattg cagacacgtc
     2281 ttgtgaacca tgtcagcagc atgagaccca atatttttct gggcgtcagt gaaggttctg
     2341 ctcagtataa gaaatggtac tatgaattga tggtggacca cacagagccc tttgtgacag
     2401 ctgaagcaac tcacctgcga gtgggctggg cttccactga aggatattct ccctaccctg
     2461 gagggggcga agagtggggt ggaaatggtg ttggagatga tctcttctcc tatggatttg
     2521 atggccttca tctctggtca ggttgtattg ctcgtactgt aagctcacca aaccaacatc
     2581 tgttaagaac tgatgatgtc atcagttgct gtttagatct gagtgcccca agcatctcgt
     2641 tccgaattaa tggacaacct gttcaaggaa tgtttgagaa tttcaacatc gatggcctct
     2701 tctttccagt cgttagtttc tctgcaggaa taaaagtacg ctttctgctt ggagggcgac
     2761 atggagaatt caaatttctt cctccacctg ggtatgctcc ttgttatgaa gctgttctgc
     2821 caaaagaaaa gttgaaagtg gaacacagcc gagagtacaa gcaagaaaga acttacacac
     2881 gcgacctgct gggccccaca gtttccctga cgcaagctgc cttcacaccc atccctgtgg
     2941 ataccagcca gatcgtgttg cctcctcatc tagaaagaat aagagaaaaa ctggcagaga
     3001 atatccatga actctgggtt atgaataaaa ttgagcttgg ctggcagtat ggtccggtta
     3061 gagatgacaa caagagacaa cacccatgcc tggtggagtt ctccaagctg cctgaacagg
     3121 agcgcaatta caacttacaa atgtcgcttg agaccctgaa gactttgttg gcattaggat
     3181 gtcatgtggg tatatcagat gaacatgctg aagacaaggt gaaaaaaatg aagctaccca
     3241 agaattacca gctgacaagt ggatacaagc ctgcccctat ggacctgagc tttatcaaac
     3301 tcaccccatc acaagaagca atggtggaca agttggcaga aaatgcacat aatgtgtggg
     3361 cgcgggatcg aatccggcag ggctggactt atggcatcca acaggacgta aagaacagaa
     3421 gaaatcctcg ccttgttccc tacactcttc tggatgaccg aaccaagaaa tccaacaagg
     3481 acagcctccg cgaggctgtg cgcacgctgc tggggtacgg ctacaacttg gaagcaccag
     3541 atcaagatca tgcagccaga gccgaagtgt gcagcggcac cggggaaagg ttccgaatct
     3601 tccgtgccga gaagacctat gcagtgaagg ccggacggtg gtattttgaa tttgagacgg
     3661 tcactgctgg agacatgagg gttggttgga gtcgtcctgg ttgtcaaccg gatcaggagc
     3721 ttggctcaga tgaacgtgcc tttgcctttg atggcttcaa ggcccagcgg tggcatcagg
     3781 gcaatgaaca ctatgggcgc tcttggcaag caggcgatgt cgtggggtgt atggttgaca
     3841 tgaacgaaca caccatgatg ttcacactga atggtgaaat ccttcttgat gattcaggct
     3901 cagaactggc tttcaaggac tttgatgttg gcgatggatt catacctgtg tgtagccttg
     3961 gagtggctca agtgggtagg atgaactttg gaaaggatgt cagcaccttg aaatatttca
     4021 ccatctgtgg cttacaagag ggctatgaac catttgccgt taatacaaac agggatatta
     4081 ccatgtggct gagcaagagg cttcctcagt ttcttcaagt tccatcaaac catgaacata
     4141 tagaggtgac cagaatagac ggcaccatag acagttcccc atgtttaaag gtcactcaga
     4201 agtcttttgg ttctcagaac agcaacactg atatcatgtt ttatcgcctg agcatgccga
     4261 tcgagtgcgc ggaggtcttc tccaagacgg tggctggagg gctccctggg gctggccttt
     4321 ttgggcccaa gaatgacttg gaagattatg atgctgattc tgactttgag gttctgatga
     4381 agacagctca tggccatcta gtgcccgatc gtgttgacaa agacaaagaa gctactaaac
     4441 cagagtttaa caaccacaaa gattatgccc aggaaaagcc ctctcgtctg aaacaaagat
     4501 ttttgcttag aagaacaaag ccagattaca gcacaagcca ttctgcaaga ctcaccgaag
     4561 atgtccttgc tgatgatcgg gatgactatg atttcttgat gcaaacgtcc acgtactatt
     4621 actcagtgag aatctttcct ggacaagaac ctgctaatgt ctgggtgggc tggattacat
     4681 cagatttcca tcagtatgac acaggctttg acttggacag agttcgcaca gtaacagtta
     4741 ctctaggaga tgaaaaagga aaagtgcatg aaagcatcaa acgcagcaac tgctatatgg
     4801 tatgtgcggg tgagagcatg agccccgggc aaggacgcaa caataatgga ctggagattg
     4861 gctgtgtggt ggatgctgcc agcgggctgc tcacattcat tgccaatggc aaggaactga
     4921 gcacatacta tcaggtggaa ccgagtacaa aattatttcc tgcggttttt gcacaagcta
     4981 caagtcccaa tgttttccag tttgagttgg gaagaataaa gaatgtgatg cctctctcgg
     5041 cgggattatt caagagtgag cacaagaacc ccgtgccgca gtgccccccg cgcctccacg
     5101 tgcagttcct gtcacacgtc ctgtggagca gaatgcccaa ccagtttttg aaggtagatg
     5161 tgtctcgaat aagtgaacgc caaggctggt tggtgcagtg tttggatcct ctgcagttca
     5221 tgtctcttca tatccctgag gaaaacagat ctgttgacat cttagagttg acagagcagg
     5281 aggaattgct gaaatttcac tatcacactc tccggctcta ctcagccgtc tgtgctcttg
     5341 ggaaccaccg ggtggcccat gccctgtgca gccatgtgga tgaacctcag ctcctctatg
     5401 ccattgagaa caagtacatg cctggtttgc tgcgtgctgg ctactatgac ctgctgattg
     5461 acatccacct gagctcctat gccactgcca ggctcatgat gaacaacgag tacattgtcc
     5521 ccatgacgga ggagacgaag agcatcaccc tgttccctga tgagaacaaa aaacacggcc
     5581 ttccagggat cggcctcagc acctccctca ggccacggat gcagttttcc tcccccagtt
     5641 ttgtaagcat tagtaatgaa tgttaccagt acagtccaga gttcccactg gacatcctca
     5701 agtccaaaac catacagatg ctgacagaag ctgttaaaga gggcagtctt catgcccggg
     5761 acccagttgg agggactact gaattcctct ttgtacctct catcaagctt ttctataccc
     5821 tgctgatcat gggcatcttt cacaacgagg acttgaagca catcttgcag ttgattgagc
     5881 ccagtgtgtt taaagaagct gccactccgg aggaggagag tgacacgctg gagaaagagc
     5941 tcagtgtgga cgatgcaaag ctgcaaggag ctggtgagga agaagccaag gggggcaagc
     6001 ggcccaagga aggcctgctc caaatgaaac tgccagagcc agttaaattg cagatgtgcc
     6061 tactgcttca gtacctctgt gactgccagg tccggcaccg gatagaagcc attgtagcct
     6121 tttcagatga ttttgtggct aagctccaag acaatcaacg tttccgatac aacgaagtca
     6181 tgcaagcctt aaacatgtca gctgcactca cagccaggaa gacaaaggaa tttagatcac
     6241 cacctcaaga acagatcaat atgcttctca attttaagga tgacaaaagt gaatgtccat
     6301 gtccagaaga aattcgtgac caactattgg atttccatga agatttgatg acacattgtg
     6361 gaattgagct ggatgaagat gggtctctgg atggaaacag tgatttaaca attagagggc
     6421 gtctgctatc cctggtagaa aaggtgacat atctgaagaa gaagcaagca gaaaaaccag
     6481 ttgagagtga ctccaaaaag tcctccactc tgcagcagct gatttctgag accatggtcc
     6541 gatgggctca ggagtctgtc attgaagacc ccgagctggt gagggccatg tttgtgttgc
     6601 tccatcggca gtatgacggc attgggggtc ttgttcgggc cctgccaaag acctacacga
     6661 taaatggtgt gtccgtggag gacaccatca acctgctggc atcccttggt cagattcggt
     6721 ccctgctgag tgtgagaatg ggcaaagaag aagagaagct catgattcgt ggattagggg
     6781 atattatgaa taacaaagtg ttttaccagc accctaatct catgagggca ctggggatgc
     6841 acgagactgt gatggaggtc atggtgaacg tccttggagg tggagagtcc aaggaaatca
     6901 cctttcccaa gatggtggcc aactgttgcc gttttctctg ttacttctgt cgtataagta
     6961 ggcagaatca aaaagctatg tttgatcatc tcagttattt actggaaaac agcagtgttg
     7021 gtcttgcctc cccagctatg agaggttcaa caccactgga tgtggctgca gcttcggtga
     7081 tggataataa tgaactagca ttagctctgc gtgagccgga tctagaaaag gtagttcgtt
     7141 atttggctgg ttgtggactg caaagttgcc agatgctggt gtctaagggc tatccagaca
     7201 ttgggtggaa cccagttgaa ggagagagat atcttgactt tcttagattt gctgtcttct
     7261 gtaatgggga gagtgtggag gaaaatgcaa atgtcgtggt gagattgctc attcggaggc
     7321 ctgagtgttt tggtcctgct ttgagaggag aaggtgggaa tgggcttctt gcagcaatgg
     7381 aagaagccat caaaatcgcc gaggatcctt cccgagatgg tccctcacca aatagcggat
     7441 ccagtaaaac acttgacaca gaggaggagg aagatgacac tatccacatg gggaacgcga
     7501 tcatgacctt ctattcagct ttgattgacc tcttgggacg ctgtgctcct gagatgcatt
     7561 tgattcatgc cgggaaggga gaagccatca gaattaggtc cattttgaga tccctcattc
     7621 ccctgggaga tttggtgggc gttatcagca tcgcttttca gatgccaaca atagccaaag
     7681 atgggaatgt ggtggaacct gacatgtctg cggggttttg cccagatcac aaggcagcca
     7741 tggttttatt ccttgacagg gtctatggga ttgaggttca agacttcctc ctccatcttc
     7801 ttgaggttgg ctttctgcca gatctccggg cggctgcttc tttagatacg gcagctttga
     7861 gtgctacaga catggccttg gccctcaatc ggtacctttg cacagccgtc ttgccattgt
     7921 taacaagatg tgctcctctc tttgctggca cagagcacca cgcttctctc attgactcat
     7981 tacttcatac tgtgtataga ctttctaagg gctgttcact taccaaagct cagcgggatt
     8041 ccatagaagt ttgtttactc tctatttgtg gacaactgag accttctatg atgcagcact
     8101 tactcagaag attagtattt gatgttccat tattaaatga acacgcaaag atgcctctta
     8161 aactgctgac aaatcattat gaaagatgct ggaaatatta ctgcctgcct ggagggtggg
     8221 gaaactttgg tgctgcctca gaagaagaac ttcatttatc aagaaagttg ttctggggca
     8281 tttttgatgc cctgtctcaa aagaaatatg aacaagaact tttcaaactg gcactgcctt
     8341 gcctgagtgc agttgcggga gctttgcctc cagactacat ggagtcaaat tatgtcagta
     8401 tgatggaaaa acagtcatca atggattctg aagggaactt taacccacaa cctgttgata
     8461 cctcaaatat tacaattcct gagaaattgg aatacttcat taacaaatat gcagaacact
     8521 cccatgacaa atggtcaatg gacaagttgg caaatggatg gatttatgga gaaatatatt
     8581 cagactcttc taaggttcag ccattaatga agccatataa gctattgtct gaaaaggaaa
     8641 aagaaattta tcgctggcca atcaaagaat ctttaaaaac tatgctggct tggggctgga
     8701 gaattgaaag aactcgggag ggagacagca tggcccttta caaccggact cgtcgtattt
     8761 ctcagacaag ccaggtttct gtggacgctg cccatggtta cagtccccgg gccattgaca
     8821 tgagcaatgt tacactatct agagacctgc atgctatggc agaaatgatg gctgaaaact
     8881 accataatat atgggcaaag aaaaagaaaa tggagttgga gtccaaagga ggaggaaacc
     8941 atcctctgct ggtgccctat gatacactga cagccaaaga gaaagccaag gatagagaaa
     9001 aagcacagga catcctcaag ttcttgcaga tcaatggata tgctgtatcc agaggattta
     9061 aggacctgga actggacacg ccttctattg agaaacgatt tgcctatagt ttcctccaac
     9121 aactcattcg ctatgtggat gaagcccatc agtatatcct ggagtttgat ggtggcagca
     9181 gaggcaaagg agaacatttc ccttatgaac aagaaatcaa gttctttgca aaagtcgttc
     9241 ttcctttaat tgatcagtat ttcaaaaacc atcgtttata cttcttatct gcagcaagca
     9301 gacctctctg ctctggagga catgcttcca acaaagagaa agaaatggtg actagcctat
     9361 tctgcaaact tggagttctt gtcaggcata ggatttcact atttggcaat gatgcaacat
     9421 caattgtcaa ctgtcttcat attttgggtc agactttgga tgcaaggaca gtgatgaaga
     9481 ctggcctgga gagtgttaaa agtgcactca gagcttttct ggacaacgct gcagaggatc
     9541 tggagaagac catggaaaac ctcaagcagg gccagttcac tcacacccga aaccagccca
     9601 aaggggttac tcagattatc aattacacca cagtggccct gctgccaatg ctgtcttcat
     9661 tatttgaaca tattggccag catcagttcg gagaagacct aatattggaa gatgtccagg
     9721 tgtcttgtta tagaattctg actagcttat atgctttggg aaccagcaag agtatttacg
     9781 tggagaggca acgttctgca ttaggagaat gtctagctgc ctttgctggt gcttttcctg
     9841 tagcattttt ggaaactcat ctggacaaac ataatattta ctccatctac aataccaagt
     9901 cttcacgaga aagagcagct ctcagtttgc caactaatgt ggaagatgtt tgtccaaaca
     9961 taccgtcttt ggagaaactc atggaagaaa tcgtggaatt agccgagtcc ggcattcgct
    10021 acactcaaat gccacatgtc atggaagtca tactgcccat gctttgcagc tacatgtctc
    10081 gttggtggga gcatggacct gagaacaatc cagaacgggc cgagatgtgc tgcacagccc
    10141 tgaactcaga gcacatgaac acacttctag ggaacatatt gaaaatcata tataataact
    10201 tggggattga tgagggagcc tggatgaaga ggctagcagt gttttcccag cctataataa
    10261 ataaagtgaa acctcagctc ttgaaaactc atttcttgcc gttaatggag aaactcaaga
    10321 aaaaggcagc tacggtggtg tctgaggaag accacctgaa agctgaggcc aggggggaca
    10381 tgtcggaggc agaactcctc atcctagatg agttcaccac actggccaga gatctctatg
    10441 ccttctaccc tctcttgatt agatttgtgg actataacag ggcaaagtgg ctaaaggagc
    10501 ctaacccaga agcagaggag ctcttccgca tggtggctga agtgtttatc tactggtcga
    10561 agtcccataa tttcaaaaga gaagagcaga acttcgttgt acagaatgaa atcaacaata
    10621 tgtctttcct tattactgat accaagtcaa agatgtcaaa ggcagctgtt tctgatcagg
    10681 aaaggaagaa aatgaagcgc aaaggagatc ggtattccat gcagacctct ctgattgtag
    10741 cagctctgaa gcggttactg cccattgggt tgaacatctg tgcccctggg gaccaggagc
    10801 tcattgctct ggccaaaaat cgatttagcc tgaaagatac cgaggatgaa gtacgagata
    10861 taatccgcag caatattcat ttacaaggca agttggagga tcctgctatt agatggcaaa
    10921 tggctcttta caaagactta ccaaacagga ctgatgatac ctcagatcca gagaagacgg
    10981 tagaaagagt attggatata gcaaatgtgc tttttcatct tgaacagaag tctaaacgtg
    11041 tgggtcggag acattactgt ctggtggaac atcctcagag atctaaaaag gctgtatggc
    11101 ataaactact gtccaagcag aggaaaaggg ctgttgtagc ctgcttccgg atggccccct
    11161 tatataatct gccaaggcat cgggctgtca atctctttct tcagggatat gaaaagtctt
    11221 ggattgaaac agaagaacat tactttgaag ataaactgat agaagattta gcaaaacctg
    11281 gggctgaacc tccagaagaa gatgaaggca ctaagagagt tgatcctcta catcagctga
    11341 tccttctgtt tagtcggaca gctttaacag agaaatgcaa actggaggaa gattttttat
    11401 atatggccta tgcagatatt atggcaaaga gttgtcatga tgaggaagat gacgatggtg
    11461 aagaggaagt gaagagtttt gaagaaaaag aaatggaaaa gcaaaagctt ctataccagc
    11521 aagcccgact ccacgatcgt ggcgcggctg agatggtgct acagacaatc agtgccagca
    11581 aaggtgaaac tggaccaatg gtagcagcta ctctgaaact tggaattgct attttaaatg
    11641 gtgggaactc cacagtacag cagaaaatgc ttgactacct caaggagaaa aaggatgtgg
    11701 gcttctttca gagcctggcc ggcctgatgc agtcatgtag tgtccttgac ctaaatgcat
    11761 ttgagcgaca aaacaaagct gaaggtcttg ggatggtgac agaggaagga tcaggagaaa
    11821 aggttctgca ggacgatgag ttcacctgtg acctcttccg attcctgcaa ctactctgtg
    11881 agggacacaa ctcagatttt cagaattatc tgagaactca gactggcaat aatacaactg
    11941 tcaacataat tatctccact gtagactacc tactgagagt tcaggaatca attagtgact
    12001 tttattggta ttactctggg aaagatgtta ttgatgaaca aggacaacgg aatttctcca
    12061 aagctatcca agtggcaaaa caagtcttta acactcttac agagtatatt cagggtcctt
    12121 gcactgggaa tcaacagagt ttggcacaca gcaggctgtg ggatgctgtg gtcggctttc
    12181 ttcatgtgtt tgcccatatg cagatgaagc tgtcgcagga ttccagtcaa attgagctat
    12241 taaaagaatt aatggatctg cagaaggata tggtggtcat gttgctgtcc atgttagaag
    12301 gtaatgttgt taatggaacg attggcaaac agatggtgga tatgcttgtg gaatcttcca
    12361 acaacgtgga gatgattctc aaattttttg acatgttctt aaaactaaag gatttgacgt
    12421 cgtctgatac ttttaaagaa tatgaccccg atggcaaggg agtcatttcc aagagggact
    12481 tccacaaagc gatggagagc cataagcact acacgcagtc agaaacggaa tttcttttgt
    12541 cttgtgcgga gacggatgag aatgaaaccc tcgactacga agagttcgtc aaacgcttcc
    12601 acgaacctgc gaaggacatc ggcttcaacg tcgccgtcct tctgacaaac ctctctgagc
    12661 acatgcccaa cgatacccga cttcagactt ttctggaatt agcagagagc gtcctgaatt
    12721 atttccagcc ctttctgggc cgcatcgaaa tcatgggaag cgccaaacgc atcgagaggg
    12781 tctattttga aatcagtgag tccagccgaa cccagtggga gaagccccag gtcaaggagt
    12841 ccaaaagaca gttcatattt gacgtggtca acgaaggcgg agagaaagag aagatggaac
    12901 tctttgtgaa cttctgcgag gacaccatct ttgaaatgca gctggcggct cagatctcgg
    12961 agtcggactt gaacgagagg tcagcgaata aggaagaaag cgagaaggag aggccggaag
    13021 agcaggggcc gaggatggct ttcttctcca ttctgacggt caggtcggcc ctgtttgcgc
    13081 tcaggtacaa tatcttgacc cttatgcgaa tgctcagtct gaagagcctg aagaagcaga
    13141 tgaaaaaagt aaaaaagatg accgtgaagg acatggtcac ggccttcttt tcatcctact
    13201 ggagtatttt catgaccctc ttgcacttcg tggccagcgt tttcagaggc tttttccgca
    13261 tcatttgcag cctgctgctt gggggaagcc tcgtcgaagg tgctaaaaag atcaaagttg
    13321 cagaactgtt agccaacatg ccagacccca ctcaggatga ggttagagga gatggggagg
    13381 agggagagag gaaacccctg gaagccgccc tgccctccga ggatctgacc gacttaaagg
    13441 agctgacaga ggaaagtgac cttctttcgg acatctttgg cctggatctg aagagagaag
    13501 gaggacagta caaactgatt cctcataatc caaatgctgg gctcagtgac ctcatgagca
    13561 acccagtccc catgcctgag gtgcaggaaa aatttcagga acagaaggca aaagaagaag
    13621 aaaaggaaga aaaagaagaa accaaatctg aacctgaaaa agccgaggga gaagatggag
    13681 aaaaagaaga gaaagccaag gaagacaagg gcaaacaaaa gttgaggcag cttcacacac
    13741 acagatacgg agaaccagaa gtgccagagt cagcattctg gaagaaaatc atagcatatc
    13801 aacagaaact tctaaactat tttgctcgca acttttacaa catgagaatg ttagccttat
    13861 ttgtcgcatt tgctatcaat ttcatcttgc tcttttataa ggtctccact tcttctgtgg
    13921 ttgaaggaaa ggagctcccc acgagaagtt caagtgaaaa tgccaaagtg acaagcctgg
    13981 acagcagctc ccatagaatc atcgcagttc actatgtact agaggagagc agcggctaca
    14041 tggagcccac gttgcgtatc ttagctattc tgcacacggt catttctttc ttctgcatca
    14101 ttggatacta ctgcttgaaa gtcccattgg ttatttttaa gcgagaaaag gaagtggcac
    14161 ggaaattgga atttgatggg ctttatatta cagaacagcc ttcagaagat gatattaaag
    14221 gccagtggga tagactcgta atcaacacac agtcatttcc caacaactac tgggacaaat
    14281 ttgttaaaag aaaggttatg gataaatatg gagagttcta cggccgagac agaatcagtg
    14341 aattacttgg catggacaag gcagctctgg acttcagtga tgccagagaa aagaagaagc
    14401 caaagaaaga cagctcctta tcagctgtac tgaactccat tgatgtgaag tatcagatgt
    14461 ggaaactagg agtcgttttc actgacaact ccttcctcta cctagcctgg tatatgacta
    14521 tgtctgttct tggacactat aacaactttt tttttgccgc tcaccttctc gacattgcta
    14581 tgggattcaa gacattaaga accatcttgt cctcagtaac tcacaatggc aaacagctcg
    14641 tattaaccgt tggcttatta gctgttgttg tatacctata cactgtggtg gcattcaatt
    14701 ttttccgaaa attctacaat aaaagtgaag atggtgatac accagatatg aaatgtgacg
    14761 atatgctaac atgctatatg ttccacatgt atgttggagt tcgtgctgga ggagggatcg
    14821 gggatgaaat cgaagaccca gcaggagatg aatatgagat ctatcgaatc atctttgaca
    14881 tcactttctt cttctttgtt attgtcattc tcttggccat aatacaaggt ctaattattg
    14941 atgcttttgg agaactaaga gaccaacagg aacaagtcaa agaagacatg gagaccaaat
    15001 gcttcatctg tgggataggc aatgattact tcgacacagt gccacatggc tttgaaaccc
    15061 acactttaca ggagcacaac ttggctaatt acttgttttt tctgatgtat cttataaaca
    15121 aagatgaaac agaacacaca ggacaggaat cttatgtctg gaagatgtat caagaaaggt
    15181 gttgggaatt tttcccagca ggggattgct tccggaaaca gtatgaagac cagctaaatt
    15241 aaactcagac ccaatcacct ctaaaaacca aaaccctacc cctctctctc cctctctcaa
    15301 tttctctgct ctcttggaaa cattttgctg attttgtgaa ttgccagcgt tgtgtgtttt
    15361 ctgggagcat cgaagctctg tttcggaaga gctgtttcct ccccccacct tttgtattta
    15421 ctttgagact aaagactgaa gaataatcta aattcatact cagacaaaaa aaggaattct
    15481 ggaaagaaaa ccattctgga cactgtcata acacacatag atagattttc ttctgagact
    15541 cccggagtct tctcgagcta cgagaccttc acagagacac gtggcagcca cactcaccca
    15601 gcctctttat ttcaccatcc tggaaggaaa ctgtctgtct aatggtcaca gagcactgta
    15661 gcacttaaca gattgccatg gacaccagtt gcgaagggaa atagtgcctt actatatgtg
    15721 ggttgagcta tgcagaagat acgtgcatga aaaaacatct ttattttctt tatgtcgacc
    15781 tttcttttct tagattgatt ttgtgaggtt tttttttttt cctttagtct tttctttagt
    15841 gggggagggt aagaaaagca gtttgcactt aaaaagaaaa aaaaaaaacg ggtggtgtgt
    15901 ctcaggacaa aaggaggctc ttctcattca gctaaattca catttgcccc ccccccccgc
    15961 ccccgccccc atatgctcct gctattattt tggtaatgct ctgatgcaac attgcaactt
    16021 tatgaaatct ttgtatgaaa acaaaaagac tgcaaaaaat acactttcaa aagaaaccat
    16081 tcattgcatg tttattatgc aagtttaaat gaacaaagaa aaccttcaga aacaagttga
    16141 tcaacgtgag agaaatttca tgataattat tcatagtaat aaagtgtcgt gggcttaatt
    16201 gtatatctgg agccagtgtc atccaccaac aatgtgatac aatatgaact tgacagtagt
    16261 tttgggtttt gctcattctt tcagccacct gtgatcagtt ttgttgatta aggacttctt
    16321 gtcaggccat tttttaatat caaagctgaa gcaatatcca ttcagggatt tcatcagttg
    16381 catcacaaaa cacggatgat aatatacatc actccatttt ttccattttg agtcctttta
    16441 aatgtaatgc taacctttac aattaaaaag tcagattcag aatggaaaca aggtcatttt
    16501 gcaaacattg gagctctttt attacaagtc tgcttgttaa ttttagaact gtaaaaccgc
    16561 tctgattaaa ctatttaact aac
//
LOCUS       NM_001035005            5548 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens chromosome 18 open reading frame 32 (C18orf32),
            transcript variant 2, mRNA.
ACCESSION   NM_001035005
VERSION     NM_001035005.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5548)
  AUTHORS   Salian S, Guo XY, Murakami Y, Kinoshita T, Kaur P, Shukla A, Girisha
            KM, Fujita M and Campeau PM.
  TITLE     C18orf32 loss-of-function is associated with a neurodevelopmental
            disorder with hypotonia and contractures
  JOURNAL   Hum Genet 141 (8), 1423-1429 (2022)
   PUBMED   35107634
  REMARK    GeneRIF: C18orf32 loss-of-function is associated with a
            neurodevelopmental disorder with hypotonia and contractures.
REFERENCE   2  (bases 1 to 5548)
  AUTHORS   Liu YS, Guo XY, Hirata T, Rong Y, Motooka D, Kitajima T, Murakami Y,
            Gao XD, Nakamura S, Kinoshita T and Fujita M.
  TITLE     N-Glycan-dependent protein folding and endoplasmic reticulum
            retention regulate GPI-anchor processing
  JOURNAL   J Cell Biol 217 (2), 585-599 (2018)
   PUBMED   29255114
REFERENCE   3  (bases 1 to 5548)
  AUTHORS   Bersuker K, Peterson CWH, To M, Sahl SJ, Savikhin V, Grossman EA,
            Nomura DK and Olzmann JA.
  TITLE     A Proximity Labeling Strategy Provides Insights into the Composition
            and Dynamics of Lipid Droplet Proteomes
  JOURNAL   Dev Cell 44 (1), 97-112 (2018)
   PUBMED   29275994
REFERENCE   4  (bases 1 to 5548)
  AUTHORS   Matsuda A, Suzuki Y, Honda G, Muramatsu S, Matsuzaki O, Nagano Y,
            Doi T, Shimotohno K, Harada T, Nishida E, Hayashi H and Sugano S.
  TITLE     Large-scale identification and characterization of human genes that
            activate NF-kappaB and MAPK signaling pathways
  JOURNAL   Oncogene 22 (21), 3307-3318 (2003)
   PUBMED   12761501
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.107018.1,
            SRR1660803.243869.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144335,
            SAMEA2154405 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000318240.8/ ENSP00000323199.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BF210402.1, BC022357.1, BC093004.1, BP395434.1, CB852935.1,
            BF512018.1 and AC100778.5.
            On Jun 2, 2019 this sequence version replaced NM_001035005.3.
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5548
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     gene            1..5548
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="chromosome 18 open reading frame 32"
                     /db_xref="GeneID:497661"
                     /db_xref="HGNC:HGNC:31690"
                     /db_xref="MIM:619979"
     misc_feature    45..47
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="upstream in-frame stop codon"
     CDS             216..446
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="putative NFkB activating protein; putative
                     NF-kappa-B-activating protein 200"
                     /codon_start=1
                     /product="UPF0729 protein C18orf32"
                     /protein_id="NP_001030177.1"
                     /db_xref="CCDS:CCDS32831.1"
                     /db_xref="GeneID:497661"
                     /db_xref="HGNC:HGNC:31690"
                     /db_xref="MIM:619979"
                     /translation="MVCIPCIVIPVLLWIYKKFLEPYIYPLVSPFVSRIWPKKAIQESN
                     DTNKGKVNFKGADMNGLPTKGPTEICDKKKD"
     misc_feature    216..326
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCD1.1);
                     Region: Necessary for its localzation to the endoplasmic
                     reticulum and lipid droplets"
     misc_feature    351..443
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TCD1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      701..706
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="hexamer: ATTAAA"
     polyA_site      725
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="major polyA site"
     regulatory      1110..1115
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="hexamer: ATTAAA"
     polyA_site      1133
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="major polyA site"
     regulatory      1673..1678
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="hexamer: AATAAA"
     polyA_site      1695
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
     regulatory      5524..5529
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="hexamer: AATAAA"
     polyA_site      5548
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
ORIGIN
        1 attgtcagct gcgtttccgc ggtcgcgggt gagtgtgccc gggctagcgg cctgggttgg
       61 gctttgtagc tgctccgcag gcccagcccg ggccgcgctc gcagagtcct aggcggtgcg
      121 cggcctcctg cctcctccct cctcggcggt cgcggcccgc cggcctccgc ggtgcctgcc
      181 ttcgctctca ggttgaggag ctcaagcttg ggaaaatggt gtgcattcct tgtatcgtca
      241 ttccagttct gctctggatc tacaaaaaat tcctggagcc atatatatac cctctggttt
      301 cccccttcgt tagtcgtata tggcctaaga aagcaataca agaatccaat gatacaaaca
      361 aaggcaaagt aaactttaag ggtgcagaca tgaatggatt accaacaaaa ggaccaacag
      421 aaatctgtga taaaaagaaa gactaaagaa attttcctaa aggaccccat catttaaaaa
      481 atggacctga taatatgaag catcttcctt gtaattgtct ctgacctttt tatctgagac
      541 cggaattcag gataggagtc tagatattta cctgatacta atcaggaaat atatgatatc
      601 cgtatttaaa atgtagttag ttatatttaa tgacctcatt cctaagttcc tttttcgtta
      661 atgtagcttt catttctgtt attgctgttt gaataatatg attaaataga aggtttgtgc
      721 cagtagacat tatgttacta aatcagcact ttaaaatctt tggttctcta attcatatga
      781 atttgctgtt tgctctaatt tctttgggct cttctaattt gagtggagta caattttgtt
      841 gtgaaacagt ccagtgaaac tgtgcaggga aatgaaggta gaattttggg aggtaataat
      901 gatgtgaaac ataaagattt aataattact gtccaacaca gtggagcagc ttgtccacaa
      961 atatagtaat tactatttat tgctctaagg aagattaaaa aaagataggg aaaaggggga
     1021 aacttctttg aaaaatgaaa catctgttac attaatgtct aattataaaa ttttaatcct
     1081 tactgcattt cttctgttcc tacaaatgta ttaaacattc agtttaactg gtagttcatt
     1141 ttcttttaaa gtctattgaa atattcaaaa gggaaatttt tcaccacgtc agaaggcaga
     1201 atttggatgt tgtgatggca tctgtgtagt ggtgggacaa caattactat tgttgcgtaa
     1261 caagacactc caaaatttag tggttttcag cagcagtgac tcgactgggc agttctttgc
     1321 tgttctgggc tcactcatat ggctggctgg gcctgggtct ggacctgggc cgctatgtga
     1381 tttttatctt gggctttgaa aattcagtgt agggacctat aaatattcaa agatgatgag
     1441 atgcatcctt atatattttt tgtattcact ctgaagctgg gaaagattaa aaggaactcc
     1501 tgcccttggg tccctaatga agtctgggtc ctaactcagg ctctattaag ttctgtggct
     1561 ggtcaagtca ctgatttacc ttgggcttta tttgatataa atcatgtaaa tcagcaggtc
     1621 tcagcttttc tgtccaaagc cacctgaggg ataagataaa ttctcattag caaataaact
     1681 tttttaaggt ataaatacta ttataaaaat aacagatatt tacagtacaa caatgcaaga
     1741 ggatcctaaa tgaaaagcga atgttttttc tcaactctca ttcccttatt ccagctccac
     1801 agaggtaacc aattgttttt ttgttgttgt tgttgtatgg tttgtttttg ttagacagta
     1861 gtcttttcct gaacagtgct gctccttgtg gagcaaggct aattcatagg cagtgcatcc
     1921 agagtccgcc ccagttgatt ttgtgtgtaa ccttctagca actttttgaa aattaatttg
     1981 ttcttaaata tgcacatcat ttttatttat ttatgttttt gagacagggt ctcactctgt
     2041 cactcaagct ggagtgcagc agcatgatca cggctctcta tggcctcgac ctgcagtcct
     2101 gaagtgatcc tctcacctta gcctctcaag tagctgggac tacaggtgca caccaccatg
     2161 cccagctaat gttttttgta atttttttta tagagacagg gtttcgtcat gttgcctggg
     2221 ctgatctcga tctcctgggc tcaagcgatc ctccactttg gcttcccaaa gtgctgggat
     2281 tacaggcatg agctactact gcacctggcc cacacatcat cttttaaaaa ttaagtaata
     2341 ttgcaacgtt tctaattgtc cctacttctt tgctcctcaa aggttttacc tactgagctg
     2401 tgggcttttt aaatttatct ccatatttat aaataaatta taaaaatata aaaatataaa
     2461 cattttattt tttgagacag ggtctcactg tcacccaggt gctggagtgc agcggcatca
     2521 tcatagctca ctacagcctc caactcctgg gctcaagtga tcctcccacc tcagcctcct
     2581 gaattgctag gactacaggt gtgtgccacc acgcctggct aattttttgt agagacgggg
     2641 tcttgctctg ttgcccaagc gagtctcaaa ctcctggcct caaagtgatc ctcttgcctc
     2701 agcctcccaa agtgtcggga ttacaggcat gagccactgc ctggctatac tgttatattt
     2761 tgagccatca acttcagaca ttgtttccca taatggttga gatgccgcta tcttacactg
     2821 cctctgctcc tcccacacat cctcccaagt gcttttgtaa attttgctta catcatcagt
     2881 gttcatagca tgagtgtgcc aggtgtcttt catttgcccc tcccaagtct ctgctcccct
     2941 catcctgctt tcagcccaag gaagctgtat agacatcaac agacttccca tgtctctggg
     3001 ttctgctggg tttggccaat agcgatccat agcaggagat ggctggaggg aggagaatga
     3061 aggcagagtg tttattccct tggccctctc tctgcaaggt cacctcaggc caactgttcc
     3121 tcagccagaa gtcactgtgc ctcaaggaac actccaggca gccaactcca cctgacttct
     3181 tttatttttc ctaacctgtc cttcaccctg cccttttggg cccaggggtg gtggtatttc
     3241 tgttactggc tctgggctac tgcttcctct caagagtgct atctggcttg ctgggacact
     3301 gcctgggaga atactattgc tcactgcaca ggttaatgca ctgtgattgc gtccctttta
     3361 atatacaggt ggtgtcttcc tggagtgacc agtttacctt ctccccatac acctctcctg
     3421 cctagttgtt gcctagacct ggtgcacact gcagtcctcg ggactttctg ttgccaccct
     3481 cctgtattgg acgtcttgtt tctggatttc ctatcctctt ccttcttggt ttatccctca
     3541 ttttttctgt agcacagcag ttttctaatt caatactttt aggaggttga gtatggataa
     3601 ttttggaaag tgtccccggg atgattccaa tttatttaag cctgttttcc agagagctgc
     3661 gggtctccta aggcctttct catttctaac aagtctccct ctctagaaca ctggttccca
     3721 gtcgttgttt tcatactagc aacattttaa aagcaggata ggggtggcta gtatgcaatt
     3781 gccaactttt gatttttcca agcaggagta tatcaaaaag ctacaattta ttaccagtat
     3841 ttcgtaaaag acagtttgac accagaagag tgaaaaagaa catgggaata gtggacaaaa
     3901 atagccatca gtttgaataa gcgtatgaaa agtgttaatt ttatgaaaaa ttcactattt
     3961 tgttcatatt tttcttattt tggaggctaa ttgttaaaag cttttatcag ttatccatgg
     4021 gctggagttg gtagccactg tttgatacca cacaaatgtt tctttgccct aaaatatcaa
     4081 catctgtctg tgtaaaggtc agggctgcct ttttagtaag agctaccctt tgttaaacac
     4141 attgtacctg cactgttcat gggtgtttca cacacacaaa cctacctggt ctgcataaac
     4201 ctgaaataca gtcaagaaaa caggatccac cggaggcggt gactcaagcc tataatccca
     4261 gcactttggg aggccgaggt gggaggatca cttgaggccg ggagttcaag accagcctgg
     4321 ccaacatggt gaaaccctgt ctctactaaa aatacaaaaa ttagtcgggc atagtggtac
     4381 acacctgtaa tcccagctac tccagaggct gaggcatgag aatcgtttga aaccaggagg
     4441 cagaggttgc agtgagctga aattgtacca ctgcactcca gcctaggtga cagagcaaga
     4501 ctgtctcaaa agaaaagaaa aagaaaaaca ggatcccagc ctgggcaaca tagggagacc
     4561 tcgcctccac caaaaattaa aaaatttagc taggcatatg gtgatgtgca cctgtggtcc
     4621 cagctactct ggaggctgag gtgggaggat tgcttgaacc caggaggtta aaggctacag
     4681 tgagctgtga tcaagccact gcactctagc ttggacaaca gagcaagacc ctgtcttaaa
     4741 aaaagaaaaa aagaataatg gagtttaaat atgtaaatga caagtctaag atttcaaggt
     4801 catactttca tgctaaggag ccatcacagc tacatatata tatagtgtat atatatatat
     4861 agtgtgtata tatatatagt gtatatacat atagtgtata tatatatagt gtatatatat
     4921 agtgtgtata tatatagtgt gtgtatatat atatatgtgt atatatatat agtgtgtgta
     4981 tatatatata tttttgtttg tttgtttgtt tttggaagat ggagtttcgc tcttgttgcc
     5041 caggctgcag tgcaatggtg caatctctgc tcaccacaac ctcctcctcc caggttcaag
     5101 cgattctgcc tcagcctccc aagtagctgg gattacaggt gcgtgctacc acacccggct
     5161 aattttgtac tttagtagag acggggtttc accacgttgg tcaggctggt ctcaaactcc
     5221 caacctccag tgatctgcct gccttggcct cccaaagtgc tgggatcaca ggcataagca
     5281 ctgggcccgg ctgccacagc tactaatatc ttaattgtta gtaatacctt attgggaata
     5341 attaggcaga aatggagagg gtgagtttag attaatcagt atgtgtgaac ttgttttaaa
     5401 gtttctggag gctgaggtga gaggatcgct taagtccagg aggcggaagt tgcagtgagc
     5461 caagatcaca ccactgtact ccagccagga caacagagca ataccccgtt tcaaataaat
     5521 aataataaag ttaattttgc taaccttg
//
LOCUS       NM_001035006             614 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L17 (RPL17), transcript variant 2,
            mRNA.
ACCESSION   NM_001035006
VERSION     NM_001035006.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 614)
  AUTHORS   Liang X, Zuo MQ, Zhang Y, Li N, Ma C, Dong MQ and Gao N.
  TITLE     Structural snapshots of human pre-60S ribosomal particles before and
            after nuclear export
  JOURNAL   Nat Commun 11 (1), 3542 (2020)
   PUBMED   32669547
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 614)
  AUTHORS   Hori H, Nakamura S, Yoshida F, Teraishi T, Sasayama D, Ota M,
            Hattori K, Kim Y, Higuchi T and Kunugi H.
  TITLE     Integrated profiling of phenotype and blood transcriptome for stress
            vulnerability and depression
  JOURNAL   J Psychiatr Res 104, 202-210 (2018)
   PUBMED   30103068
  REMARK    GeneRIF: The present study combines an individual-based phenotypic
            profiling with a transdiagnostic approach and shows that several
            ribosomal genes including RPL17 is involved in stress vulnerability
            across nonclinical and clinical conditions.
REFERENCE   3  (bases 1 to 614)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   4  (bases 1 to 614)
  AUTHORS   Jefferson M, Donaszi-Ivanov A, Pollen S, Dalmay T, Saalbach G and
            Powell PP.
  TITLE     Host factors that interact with the pestivirus N-terminal protease,
            Npro, are components of the ribonucleoprotein complex
  JOURNAL   J Virol 88 (18), 10340-10353 (2014)
   PUBMED   24965446
REFERENCE   5  (bases 1 to 614)
  AUTHORS   Anger AM, Armache JP, Berninghausen O, Habeck M, Subklewe M, Wilson
            DN and Beckmann R.
  TITLE     Structures of the human and Drosophila 80S ribosome
  JOURNAL   Nature 497 (7447), 80-85 (2013)
   PUBMED   23636399
REFERENCE   6  (bases 1 to 614)
  AUTHORS   Odintsova TI, Muller EC, Ivanov AV, Egorov TA, Bienert R, Vladimirov
            SN, Kostka S, Otto A, Wittmann-Liebold B and Karpova GG.
  TITLE     Characterization and analysis of posttranslational modifications of
            the human large cytoplasmic ribosomal subunit proteins by mass
            spectrometry and Edman sequencing
  JOURNAL   J Protein Chem 22 (3), 249-258 (2003)
   PUBMED   12962325
REFERENCE   7  (bases 1 to 614)
  AUTHORS   Yoshihama M, Uechi T, Asakawa S, Kawasaki K, Kato S, Higa S, Maeda
            N, Minoshima S, Tanaka T, Shimizu N and Kenmochi N.
  TITLE     The human ribosomal protein genes: sequencing and comparative
            analysis of 73 genes
  JOURNAL   Genome Res 12 (3), 379-390 (2002)
   PUBMED   11875025
REFERENCE   8  (bases 1 to 614)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   9  (bases 1 to 614)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   10  (bases 1 to 614)
  AUTHORS   Mager DL and Freeman JD.
  TITLE     A human gene related to the ribosomal protein L23 gene of
            Halobacterium marismortui
  JOURNAL   Nucleic Acids Res 18 (17), 5301 (1990)
   PUBMED   2402465
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BQ949854.1, BU153842.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000580261.6/ ENSP00000462385.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AC100778.5.
            On Sep 16, 2020 this sequence version replaced NM_001035006.4.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein belongs
            to the L22P family of ribosomal proteins. It is located in the
            cytoplasm. This gene has been referred to as rpL23 because the
            encoded protein shares amino acid identity with ribosomal protein
            L23 from Halobacterium marismortui; however, its official symbol is
            RPL17. As is typical for genes encoding ribosomal proteins, there
            are multiple processed pseudogenes of this gene dispersed through
            the genome. Alternative splicing results in multiple transcript
            variants. Read-through transcription also exists between this gene
            and the neighboring downstream C18orf32 (chromosome 18 open reading
            frame 32) gene. [provided by RefSeq, Dec 2010].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..614
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     gene            1..614
                     /gene="RPL17"
                     /gene_synonym="L17; PD-1; RPL23; uL22"
                     /note="ribosomal protein L17"
                     /db_xref="GeneID:6139"
                     /db_xref="HGNC:HGNC:10307"
                     /db_xref="MIM:603661"
     misc_feature    10..12
                     /gene="RPL17"
                     /gene_synonym="L17; PD-1; RPL23; uL22"
                     /note="upstream in-frame stop codon"
     CDS             22..576
                     /gene="RPL17"
                     /gene_synonym="L17; PD-1; RPL23; uL22"
                     /note="isoform a is encoded by transcript variant 2; 60S
                     ribosomal protein L17; large ribosomal subunit protein
                     uL22; gene encoding putative NFkB activating protein; 60S
                     ribosomal protein L23"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL22 isoform a"
                     /protein_id="NP_001030178.1"
                     /db_xref="CCDS:CCDS45865.1"
                     /db_xref="GeneID:6139"
                     /db_xref="HGNC:HGNC:10307"
                     /db_xref="MIM:603661"
                     /translation="MVRYSLDPENPTKSCKSRGSNLRVHFKNTRETAQAIKGMHIRKAT
                     KYLKDVTLQKQCVPFRRYNGGVGRCAQAKQWGWTQGRWPKKSAEFLLHMLKNAESNAEL
                     KGLDVDSLVIEHIQVNKAPKMRRRTYRAHGRINPYMSSPCHIEMILTEKEQIVPKPEEE
                     VAQKKKISQKKLKKQKLMARE"
     misc_feature    499..573
                     /gene="RPL17"
                     /gene_synonym="L17; PD-1; RPL23; uL22"
                     /note="propagated from UniProtKB/Swiss-Prot (P18621.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      589..594
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL17"
                     /gene_synonym="L17; PD-1; RPL23; uL22"
                     /note="hexamer: AATAAA"
     polyA_site      614
                     /gene="RPL17"
                     /gene_synonym="L17; PD-1; RPL23; uL22"
                     /note="major polyA site"
ORIGIN
        1 agcctgaggt gatctgtgaa aatggttcgc tattcacttg acccggagaa ccccacgaaa
       61 tcatgcaaat caagaggttc caatcttcgt gttcacttta agaacactcg tgaaactgct
      121 caggccatca agggtatgca tatacgaaaa gccacgaagt atctgaaaga tgtcacttta
      181 cagaaacagt gtgtaccatt ccgacgttac aatggtggag ttggcaggtg tgcgcaggcc
      241 aagcaatggg gctggacaca aggtcggtgg cccaaaaaga gtgctgaatt tttgctgcac
      301 atgcttaaaa acgcagagag taatgctgaa cttaagggtt tagatgtaga ttctctggtc
      361 attgagcata tccaagtgaa caaagcacct aagatgcgcc gccggaccta cagagctcat
      421 ggtcggatta acccatacat gagctctccc tgccacattg agatgatcct tacggaaaag
      481 gaacagattg ttcctaaacc agaagaggag gttgcccaga agaaaaagat atcccagaag
      541 aaactgaaga aacaaaaact tatggcacgg gagtaaattc agcattaaaa taaatgtaat
      601 taaaaggaaa agaa
//
LOCUS       NM_001035223            2511 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens ral guanine nucleotide dissociation stimulator like 3
            (RGL3), transcript variant 2, mRNA.
ACCESSION   NM_001035223
VERSION     NM_001035223.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2511)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.2483414.1, BC014426.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380456.8/ ENSP00000369823.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC101756.1, BC143530.1 and BM992649.1.
            On Jun 2, 2019 this sequence version replaced NM_001035223.3.
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region compared to variant 1. This
            results in a shorter protein (isoform 2) compared to isoform 1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2511
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..2511
                     /gene="RGL3"
                     /note="ral guanine nucleotide dissociation stimulator like
                     3"
                     /db_xref="GeneID:57139"
                     /db_xref="HGNC:HGNC:30282"
                     /db_xref="MIM:616743"
     misc_feature    16..18
                     /gene="RGL3"
                     /note="upstream in-frame stop codon"
     CDS             37..2169
                     /gene="RGL3"
                     /note="isoform 2 is encoded by transcript variant 2;
                     RalGEF-like protein 3, mouse homolog; ralGDS-like 3"
                     /codon_start=1
                     /product="ral guanine nucleotide dissociation
                     stimulator-like 3 isoform 2"
                     /protein_id="NP_001030300.3"
                     /db_xref="CCDS:CCDS32910.1"
                     /db_xref="GeneID:57139"
                     /db_xref="HGNC:HGNC:30282"
                     /db_xref="MIM:616743"
                     /translation="MERTAGKELALAPLQDWGEETEDGAVYSVSLRRQRSQRRSPAEGP
                     GGSQAPSPIANTFLHYRTSKVRVLRAARLERLVGELVFGDREQDPSFMPAFLATYRTFV
                     PTACLLGFLLPPMPPPPPPGVEIKKTAVQDLSFNKNLRAVVSVLGSWLQDHPQDFRDHP
                     AHSDLGSVRTFLGWAAPGSAEAQKAEKLLEDFLEEAEREQEEEPPQVWTGPPRVAQTSD
                     PDSSEACAEEEEGLMPQGPQLLDFSVDEVAEQLTLIDLELFSKVRLYECLGSVWSQRDR
                     PGAAGASPTVRATVAQFNTVTGCVLGSVLGAPGLAAPQRAQRLEKWIRIAQRCRELRNF
                     SSLRAILSALQSNPIYRLKRSWGAVSREPLSTFRKLSQIFSDENNHLSSREILFQEEAT
                     EGSQEEDNTPGSLPSKPPPGPVPYLGTFLTDLVMLDTALPDMLEGDLINFEKRRKEWEI
                     LARIQQLQRRCQSYTLSPHPPILAALHAQNQLTEEQSYRLSRVIEPPAASCPSSPRIRR
                     RISLTKRLSAKLAREKSSSPSGSPGDPSSPTSSVSPGSPPSSPRSRDAPAGSPPASPGP
                     QGPSTKLPLSLDLPSPRPFALPLGSPRIPLPAQQSSEARVIRVSIDNDHGNLYRSILLT
                     SQDKAPSVVRRALQKHNVPQPWACDYQLFQVLPGDRVLLIPDNANVFYAMSPVAPRDFM
                     LRRKEGTRNTLSVSPS"
     misc_feature    118..198
                     /gene="RGL3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3MIN7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    190..192
                     /gene="RGL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q3MIN7.2); phosphorylation site"
     misc_feature    628..738
                     /gene="RGL3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3MIN7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1225..1293
                     /gene="RGL3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3MIN7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1558..1560
                     /gene="RGL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UYI5; propagated from
                     UniProtKB/Swiss-Prot (Q3MIN7.2); phosphorylation site"
     misc_feature    1570..1572
                     /gene="RGL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q3MIN7.2); phosphorylation site"
     misc_feature    1612..1863
                     /gene="RGL3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3MIN7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1699..1701
                     /gene="RGL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UYI5; propagated from
                     UniProtKB/Swiss-Prot (Q3MIN7.2); phosphorylation site"
     misc_feature    1741..1743
                     /gene="RGL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q3MIN7.2); phosphorylation site"
     misc_feature    1753..1755
                     /gene="RGL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q3MIN7.2); phosphorylation site"
     misc_feature    1807..1809
                     /gene="RGL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q3MIN7.2); phosphorylation site"
     misc_feature    1837..1839
                     /gene="RGL3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q3MIN7.2); phosphorylation site"
     misc_feature    1870..2157
                     /gene="RGL3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3MIN7.2);
                     Region: Interaction with HRAS, MRAS and RIT1.
                     /evidence=ECO:0000250"
     polyA_site      2511
                     /gene="RGL3"
                     /note="major polyA site"
ORIGIN
        1 actcagcggc gccactgaga gggacgggcg ccggccatgg agcgcacagc aggcaaagag
       61 ctggccctgg caccgctgca ggactggggt gaagagaccg aggacggcgc ggtgtacagt
      121 gtctccctgc ggcggcagcg cagtcagcgc aggagcccgg cggagggccc cgggggcagc
      181 caggctccca gccccattgc caataccttc ctccactatc gaaccagcaa ggtgagggtg
      241 ctgagggcag cgcgcctgga gcggctggtg ggagagttgg tgtttggaga ccgtgagcag
      301 gaccccagct tcatgcccgc cttcctggcc acctaccgga cctttgtacc cactgcctgc
      361 ctgctgggct ttctgctgcc accaatgcca ccgcccccac ctcccggggt agagatcaag
      421 aagacagcgg tacaagatct gagcttcaac aagaacctga gggctgtggt gtcagtgctg
      481 ggctcctggc tgcaggacca ccctcaggat ttccgagacc accctgccca ttcggacctg
      541 ggcagtgtcc gaacctttct gggctgggcg gccccaggga gtgctgaggc tcaaaaagca
      601 gagaagcttc tggaagattt tttggaggag gctgagcgag agcaggaaga ggagccgcct
      661 caggtgtgga caggacctcc cagagttgcc caaacttctg acccagactc ttcagaggcc
      721 tgcgcggagg aagaggaagg gctcatgcct caaggtcccc agctcctgga cttcagcgtg
      781 gacgaggtgg ccgagcagct gaccctcata gacttggagc tcttctccaa ggtgaggctc
      841 tacgagtgct tgggctccgt gtggtcgcag agggaccggc cgggggctgc aggcgcctcc
      901 cccactgtgc gcgccaccgt ggcccagttc aacaccgtga ccggctgtgt gctgggttcc
      961 gtgctcggag caccgggctt ggccgccccg cagagggcgc agcggctgga gaagtggatc
     1021 cgcatcgccc agcgctgccg agaactgcgg aacttctcct ccttgcgcgc catcctgtcc
     1081 gccctgcaat ctaaccccat ctaccggctc aagcgcagct ggggggcagt gagccgggaa
     1141 ccgctatcta ctttcaggaa actttcgcag attttctccg atgagaacaa ccacctcagc
     1201 agcagagaga ttcttttcca ggaggaggcc actgagggat cccaagaaga ggacaacacc
     1261 ccaggcagcc tgccctcaaa accaccccca ggccctgtcc cctaccttgg caccttcctt
     1321 acggacctgg ttatgctgga cacagccctg ccggatatgt tggaggggga tctcattaac
     1381 tttgagaaga ggaggaagga gtgggagatc ctggcccgca tccagcagct gcagaggcgc
     1441 tgtcagagct acaccctgag cccccacccg cccatcctgg ctgccctgca tgcccagaac
     1501 cagctcaccg aggagcagag ctaccggctc tcccgggtca ttgagccacc agctgcctcc
     1561 tgccccagct ccccacgcat ccgacggcgg atcagcctca ccaagcgtct cagtgcgaag
     1621 cttgcccgag agaaaagctc atcacctagt gggagtcccg gggacccctc atcccccacc
     1681 tccagtgtgt ccccagggtc acccccctca agtcctagaa gcagagatgc tcctgctggc
     1741 agtcccccgg cctctccagg gccccagggc cccagcacca agctgcccct gagcctggac
     1801 ctgcccagcc cccggccctt cgctttgcct ctgggcagcc ctcgaatccc cctcccggcg
     1861 cagcagagct cggaggcccg tgtcatccgc gtcagcatcg acaatgacca cgggaacctg
     1921 tatcgaagca tcttgctgac cagtcaggac aaagccccca gcgtggtccg gcgagccttg
     1981 cagaagcaca atgtgcccca gccctgggcc tgtgactatc agctctttca agtccttcct
     2041 ggggaccggg tgctcctgat tcctgacaat gccaacgtct tctatgccat gagtccagtc
     2101 gcccccagag acttcatgct gcggcggaaa gaggggaccc ggaacactct gtctgtctcc
     2161 ccaagctgag gcagccctgt cctctccaca agacacaagt cccacaggca agcttgcgac
     2221 tcttctcctg gaaagctgcc atcccccagt agaggccact gtgctgtgta tcccaggacc
     2281 accacccaac tgtagcccat tggaccccat ctctttttct gactctgttg gtactagatc
     2341 catattccaa agacatcagc ccatgggtgg ctggtggaga gctcaatccc ataaatgtag
     2401 aaagaggtgg ggcatggata cgtcaaatcc ctccccagag aaatcttata aatgttagag
     2461 acgcatcaga agtgacagat gcggatgaaa atagtgacca gagttatgaa a
//
LOCUS       NM_001035235            1328 bp    mRNA    linear   PRI 24-MAY-2023
DEFINITION  Homo sapiens steroid receptor RNA activator 1 (SRA1), transcript
            variant 1, mRNA.
ACCESSION   NM_001035235
VERSION     NM_001035235.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1328)
  AUTHORS   Yang X, Jia R, Hu F, Fan W, Lin T, Zhang X, Xu C, Ruan S, Jiang C,
            Li Y, Pan C, Yang Y, Hu L, Chen Q and Liu WT.
  TITLE     Promoting AMPK/SR-A1-mediated clearance of HMGB1 attenuates
            chemotherapy-induced peripheral neuropathy
  JOURNAL   Cell Commun Signal 21 (1), 99 (2023)
   PUBMED   37143083
  REMARK    GeneRIF: Promoting AMPK/SR-A1-mediated clearance of HMGB1 attenuates
            chemotherapy-induced peripheral neuropathy. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 1328)
  AUTHORS   Kochumon S, Arefanian H, Sindhu S, Thomas R, Jacob T, Al-Sayyar A,
            Shenouda S, Al-Rashed F, Koistinen HA, Al-Mulla F, Tuomilehto J and
            Ahmad R.
  TITLE     Expression of Steroid Receptor RNA Activator 1 (SRA1) in the Adipose
            Tissue Is Associated with TLRs and IRFs in Diabesity
  JOURNAL   Cells 11 (24), 4007 (2022)
   PUBMED   36552771
  REMARK    GeneRIF: Expression of Steroid Receptor RNA Activator 1 (SRA1) in
            the Adipose Tissue Is Associated with TLRs and IRFs in Diabesity.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1328)
  AUTHORS   Novikova IV, Hennelly SP and Sanbonmatsu KY.
  TITLE     Structural architecture of the human long non-coding RNA, steroid
            receptor RNA activator
  JOURNAL   Nucleic Acids Res 40 (11), 5034-5051 (2012)
   PUBMED   22362738
  REMARK    GeneRIF: A report of the first experimentally derived secondary
            structure of a human lncRNA, the steroid receptor RNA activator.
REFERENCE   4  (bases 1 to 1328)
  AUTHORS   Colley SM and Leedman PJ.
  TITLE     Steroid Receptor RNA Activator - A nuclear receptor coregulator with
            multiple partners: Insights and challenges
  JOURNAL   Biochimie 93 (11), 1966-1972 (2011)
   PUBMED   21807064
  REMARK    Review article
REFERENCE   5  (bases 1 to 1328)
  AUTHORS   Cooper C, Vincett D, Yan Y, Hamedani MK, Myal Y and Leygue E.
  TITLE     Steroid Receptor RNA Activator bi-faceted genetic system: Heads or
            Tails?
  JOURNAL   Biochimie 93 (11), 1973-1980 (2011)
   PUBMED   21771633
  REMARK    Review article
REFERENCE   6  (bases 1 to 1328)
  AUTHORS   Chooniedass-Kothari S, Hamedani MK, Troup S, Hube F and Leygue E.
  TITLE     The steroid receptor RNA activator protein is expressed in breast
            tumor tissues
  JOURNAL   Int J Cancer 118 (4), 1054-1059 (2006)
   PUBMED   16152589
  REMARK    GeneRIF: data suggest that the presence of both coding SRA RNA and
            its corresponding SRAP modifies the activity of estrogen receptor in
            breast cancer cells and that SRAP could be a new clinical marker for
            breast cancer
REFERENCE   7  (bases 1 to 1328)
  AUTHORS   Murphy LC, Simon SL, Parkes A, Leygue E, Dotzlaw H, Snell L, Troup
            S, Adeyinka A and Watson PH.
  TITLE     Altered expression of estrogen receptor coregulators during human
            breast tumorigenesis
  JOURNAL   Cancer Res 60 (22), 6266-6271 (2000)
   PUBMED   11103781
REFERENCE   8  (bases 1 to 1328)
  AUTHORS   Leygue E, Dotzlaw H, Watson PH and Murphy LC.
  TITLE     Expression of the steroid receptor RNA activator in human breast
            tumors
  JOURNAL   Cancer Res 59 (17), 4190-4193 (1999)
   PUBMED   10485452
REFERENCE   9  (bases 1 to 1328)
  AUTHORS   Lanz RB, McKenna NJ, Onate SA, Albrecht U, Wong J, Tsai SY, Tsai MJ
            and O'Malley BW.
  TITLE     A steroid receptor coactivator, SRA, functions as an RNA and is
            present in an SRC-1 complex
  JOURNAL   Cell 97 (1), 17-27 (1999)
   PUBMED   10199399
REFERENCE   10  (bases 1 to 1328)
  AUTHORS   Balasubramanian,R. and Crowley,W.F. Jr.
  TITLE     Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301509
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.219059.1, AK054960.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000336283.9/ ENSP00000337513.6
            multifunctional gene product(s) :: PMID: 21771633
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011399.6 and BC040043.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 12, 2020 this sequence version replaced NM_001035235.3.
            Summary: Both long non-coding and protein-coding RNAs are
            transcribed from this gene, and they represent alternatively
            spliced transcript variants. This gene was initially defined as a
            non-coding RNA, which is a coactivator for several nuclear
            receptors (NRs) and is associated with breast cancer. It has now
            been found that this gene is involved in the regulation of many NR
            and non-NR activities, including metabolism, adipogenesis and
            chromatin organization. The long non-coding RNA transcripts
            interact with a variety of proteins, including the protein encoded
            by this gene. The encoded protein acts as a transcriptional
            repressor by binding to the non-coding RNA. [provided by RefSeq,
            Mar 2012].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1328
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..1328
                     /gene="SRA1"
                     /gene_synonym="pp7684; SRA; SRAP; STRAA1"
                     /note="steroid receptor RNA activator 1"
                     /db_xref="GeneID:10011"
                     /db_xref="HGNC:HGNC:11281"
                     /db_xref="MIM:603819"
     CDS             22..696
                     /gene="SRA1"
                     /gene_synonym="pp7684; SRA; SRAP; STRAA1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     steroid receptor coactivator; steroid receptor RNA
                     activator 1 (complexes with NCOA1); steroid receptor RNA
                     activator protein"
                     /codon_start=1
                     /product="steroid receptor RNA activator 1 isoform 1"
                     /protein_id="NP_001030312.3"
                     /db_xref="CCDS:CCDS34245.2"
                     /db_xref="GeneID:10011"
                     /db_xref="HGNC:HGNC:11281"
                     /db_xref="MIM:603819"
                     /translation="MAELYVKPGNKERGWNDPPQFSYGLQTQAGGPRRSLLTKRVAAPQ
                     DGSPRVPASETSPGPPPMGPPPPSSKAPRSPPVGSGPASGVEPTSFPVESEAVMEDVLR
                     PLEQALEDCRGHTRKQVCDDISRRLALLQEQWAGGKLSIPVKKRMALLVQELSSHRWDA
                     ADDIHRSLMVDHVTEVSQWMVGVKRLIAEKRSLFSEEAANEEKSAATAEKNHTIPGFQQ
                     AS"
     misc_feature    22..291
                     /gene="SRA1"
                     /gene_synonym="pp7684; SRA; SRAP; STRAA1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HD15.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    163..165
                     /gene="SRA1"
                     /gene_synonym="pp7684; SRA; SRAP; STRAA1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9HD15.2); phosphorylation site"
     misc_feature    190..192
                     /gene="SRA1"
                     /gene_synonym="pp7684; SRA; SRAP; STRAA1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9HD15.2); phosphorylation site"
     misc_feature    244..246
                     /gene="SRA1"
                     /gene_synonym="pp7684; SRA; SRAP; STRAA1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9HD15.2); phosphorylation site"
     misc_feature    622..693
                     /gene="SRA1"
                     /gene_synonym="pp7684; SRA; SRAP; STRAA1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HD15.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      870..875
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRA1"
                     /gene_synonym="pp7684; SRA; SRAP; STRAA1"
                     /note="hexamer: AATAAA"
     polyA_site      890
                     /gene="SRA1"
                     /gene_synonym="pp7684; SRA; SRAP; STRAA1"
                     /note="major polyA site"
     polyA_site      927
                     /gene="SRA1"
                     /gene_synonym="pp7684; SRA; SRAP; STRAA1"
     regulatory      1312..1317
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRA1"
                     /gene_synonym="pp7684; SRA; SRAP; STRAA1"
                     /note="hexamer: AACAAA"
     polyA_site      1317
                     /gene="SRA1"
                     /gene_synonym="pp7684; SRA; SRAP; STRAA1"
     polyA_site      1328
                     /gene="SRA1"
                     /gene_synonym="pp7684; SRA; SRAP; STRAA1"
ORIGIN
        1 gctggccaag cggaagtgga gatggcggag ctgtacgtga agccgggcaa caaggaacgc
       61 ggctggaacg acccgccgca gttctcatac gggctgcaga cccaggccgg cggacccagg
      121 cgctcgctgc ttaccaagag ggtcgccgca ccccaggatg gatcccccag agtccccgca
      181 tcagagactt ctcctgggcc tcccccaatg gggcctccac ctccttcaag taaggctccc
      241 aggtccccac ctgtggggag tggtcctgcc tctggcgtgg agcccacaag tttcccagtc
      301 gagtctgagg ctgtgatgga ggatgtgctg agacctttgg aacaggcatt ggaagactgc
      361 cgtggccaca caaggaagca ggtatgtgat gacatcagcc gacgcctggc actgctgcag
      421 gaacagtggg ctggaggaaa gttgtcaata cctgtaaaga agagaatggc tctactggtg
      481 caagagcttt caagccaccg gtgggacgca gcagatgaca tccaccgctc cctcatggtt
      541 gaccatgtga ctgaggtcag tcagtggatg gtaggagtta aaagattaat tgcagaaaag
      601 aggagtctgt tttcagagga ggcagccaat gaagagaaat ctgcagccac agctgagaag
      661 aaccatacca taccaggctt ccagcaggct tcataatcct cggttcccca gactcaccgg
      721 acaccatctc ctatgccttg gagaccttct gtcacttggc tcccttctta ccaccaccaa
      781 gactgtccca ctgggcctga cccacctatg agggaagaag tcccacctgg gccagaggga
      841 gttcatgtgt tactcataac atgcatttca ataaaaacat ctctgcggtg ggccttgggt
      901 aggagagatg aacccttccg gtgccaagct agtcccctct ggtgtcctcg actgccctgc
      961 tccctgtgta tctgcaaacc tctgttctcc cttctccatt catcaggaag ggatctgctg
     1021 ggtaaagtca gactactgcc taccactttt tcccaaagta gactgaaagc acatcctgtg
     1081 ctgggcggag cagctgtgtt tggatggttt catttcagca tgagaacaga ctcaaataga
     1141 acggggagac ttttccctca acaaaaggaa agacagtcct atttgcactg tatcaccctt
     1201 gagatactac tgttacagag attagaacca cattgagtgg ggttttctgt gtaaatcgaa
     1261 ggagaaaaag accagattac tgagattggg gattgtaact ctgacttgcc aaacaaactg
     1321 ctgcctca
//
LOCUS       NM_001035254            4617 bp    mRNA    linear   PRI 06-JUL-2023
DEFINITION  Homo sapiens estrogen-induced osteoclastogenesis regulator 1
            (EEIG1), transcript variant 1, mRNA.
ACCESSION   NM_001035254
VERSION     NM_001035254.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4617)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4617)
  AUTHORS   Nongpiur ME, Cheng CY, Duvesh R, Vijayan S, Baskaran M, Khor CC,
            Allen J, Kavitha S, Venkatesh R, Goh D, Husain R, Boey PY, Quek D,
            Ho CL, Wong TT, Perera S, Wong TY, Krishnadas SR, Sundaresan P, Aung
            T and Vithana EN.
  TITLE     Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci in
            Patients with Early Stages of Angle-Closure Disease
  JOURNAL   Ophthalmology 125 (5), 664-670 (2018)
   PUBMED   29310965
  REMARK    GeneRIF: In this study, 2 of 8 (primary angle-closure glaucoma)
            PACG-associated loci were associated significantly with PACS status,
            the earliest stage in the angle-closure glaucoma disease course. The
            association of these PACG loci with PACS status suggests that these
            loci may confer susceptibility to a narrow angle configuration.
REFERENCE   3  (bases 1 to 4617)
  AUTHORS   Choi HK, Kang HR, Jung E, Kim TE, Lin JJ and Lee SY.
  TITLE     Early estrogen-induced gene 1, a novel RANK signaling component, is
            essential for osteoclastogenesis
  JOURNAL   Cell Res 23 (4), 524-536 (2013)
   PUBMED   23478294
  REMARK    GeneRIF: EEIG1 is a novel RANK signaling component controlling
            RANK-mediated osteoclast formation.
REFERENCE   4  (bases 1 to 4617)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   5  (bases 1 to 4617)
  AUTHORS   Wang DY, Fulthorpe R, Liss SN and Edwards EA.
  TITLE     Identification of estrogen-responsive genes by complementary
            deoxyribonucleic acid microarray and characterization of a novel
            early estrogen-induced gene: EEIG1
  JOURNAL   Mol Endocrinol 18 (2), 402-411 (2004)
   PUBMED   14605097
  REMARK    GeneRIF: A novel estrogen-responsive gene was identified and named
            EEIG1 for early estrogen-induced gene 1
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.145466.1,
            SRR1803613.76497.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000373095.6/ ENSP00000362187.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL157935.28, AK058004.1, CN482844.1, BC047949.1 and BI008660.1.
            On Nov 22, 2018 this sequence version replaced NM_001035254.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4617
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..4617
                     /gene="EEIG1"
                     /gene_synonym="bA203J24.7; C9orf132; FAM102A; SYM-3A"
                     /note="estrogen-induced osteoclastogenesis regulator 1"
                     /db_xref="GeneID:399665"
                     /db_xref="HGNC:HGNC:31419"
                     /db_xref="MIM:610891"
     misc_feature    784..786
                     /gene="EEIG1"
                     /gene_synonym="bA203J24.7; C9orf132; FAM102A; SYM-3A"
                     /note="upstream in-frame stop codon"
     CDS             853..2007
                     /gene="EEIG1"
                     /gene_synonym="bA203J24.7; C9orf132; FAM102A; SYM-3A"
                     /note="isoform a is encoded by transcript variant 1; early
                     estrogen-induced gene 1 protein; protein FAM102A; sym-3
                     homolog A; family with sequence similarity 102 member A"
                     /codon_start=1
                     /product="early estrogen-induced gene 1 protein isoform a"
                     /protein_id="NP_001030331.1"
                     /db_xref="CCDS:CCDS35150.1"
                     /db_xref="GeneID:399665"
                     /db_xref="HGNC:HGNC:31419"
                     /db_xref="MIM:610891"
                     /translation="MAFLMKKKKFKFQTTFTLEELTAVPFVNGVLFCKVRLLDGGDFVS
                     LSSREEVQENCVRWRKRFTFVCKMSANPATGLLDPCVFRVSVRKELKGGKAYSKLGFAD
                     LNLAEFAGSGSTVRCCLLEGYDTKNTRQDNSILKVTIGMFLLSGDPCFKTPPSTAKSIS
                     IPGQDSSLQLTCKGGGTSSGGSSTNSLTGSRPPKARPTILSSGLPEEPDQNLSSPEEVF
                     HSGHSRNSSYASQQSKISGYSTEHSRSSSLSDLTHRRNTSTSSSASGGLGMTVEGPEGS
                     EREHRPPEKPPRPPRPLHLSDRSFRRKKDSVESHPTWVDDTRIDADAIVEKIVQSQDFT
                     DGSNTEDSNLRLFVSRDGSATLSGIQLATRVSSGVYEPVVIESH"
     misc_feature    1237..1266
                     /gene="EEIG1"
                     /gene_synonym="bA203J24.7; C9orf132; FAM102A; SYM-3A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T9C2.2);
                     Region: Required for interaction with TNFRSF11A/RANK.
                     /evidence=ECO:0000250|UniProtKB:Q78T81"
     misc_feature    1369..1797
                     /gene="EEIG1"
                     /gene_synonym="bA203J24.7; C9orf132; FAM102A; SYM-3A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T9C2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4300..4305
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EEIG1"
                     /gene_synonym="bA203J24.7; C9orf132; FAM102A; SYM-3A"
                     /note="hexamer: AATAAA"
     polyA_site      4318
                     /gene="EEIG1"
                     /gene_synonym="bA203J24.7; C9orf132; FAM102A; SYM-3A"
                     /note="major polyA site"
     regulatory      4594..4599
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EEIG1"
                     /gene_synonym="bA203J24.7; C9orf132; FAM102A; SYM-3A"
                     /note="hexamer: ATTAAA"
     polyA_site      4617
                     /gene="EEIG1"
                     /gene_synonym="bA203J24.7; C9orf132; FAM102A; SYM-3A"
ORIGIN
        1 attctccaag cggcgcctcg cagcatcggg ctctggctgc agcgtcgggg ccgcaggggg
       61 cggcgctgct gctcgaaggg tgccgggcga ggcgggcgcc accggccggg ccgaagggcg
      121 cctcagctcc gccggggccc gcggcgcggg tcccaggatc gaggaggagg cggcgcctcc
      181 gctgcccggg gccggcccgg tgcctgccct gaggaggccc gaggccggac gttcccggcc
      241 cgcagcgacc ccgacgcgcc tcctggagag gcccccgagc tcctggcagc cccctggggg
      301 tgccccacct tccccggctt cacctgcgct ggccgcccgg cacccaggtg cgggggcgtg
      361 agcggcgagg gcacctcccc cggccgccag cggggcgggg gcggggccgc cctccgccct
      421 cagccttacc ggccagccag cccgcccgcc gccctcagtc tcaccggtcc gcccggccgc
      481 gcggcgtgag ctccccggac atcgcgtctc gggatgctgc aagccagcgc ggccgctcgc
      541 gcgcagcccc gcacctccgc ccctgcctct gcctcctggg ccatgccctg ctgtttacat
      601 gccggtgagg tccccggccg ctccgaaccc ctccgagccc cggctccccg agggtgaagc
      661 ccgccggccc gcgaactgga ctggtggatc tctcagacct ggggccccgg actccgatct
      721 ccgccgtctc cgccaccatc agggcgggat ccggctctgg tgttttgagg agggggtgtg
      781 gtgtagggaa aggaatcccg tccctctcca ccttttttcg ccttcggggc ttcagactca
      841 gggaactcgc tcatggcttt cttgatgaag aagaagaaat tcaaattcca aactactttc
      901 accctggagg agctgactgc ggttcccttc gtgaacgggg tcctcttctg caaggtccgg
      961 ctgctggatg gaggggattt tgtcagcttg tcgtcaaggg aggaggtaca ggagaactgt
     1021 gtgcggtggc gaaagaggtt caccttcgtg tgtaagatga gtgctaaccc ggccaccggc
     1081 ctgctggacc cctgtgtctt ccgtgtgtct gtgcgcaagg agctgaaagg cgggaaggct
     1141 tattccaagc tgggcttcgc tgacttgaac ctggccgagt ttgcgggctc gggctccacg
     1201 gtgcgctgct gcctgctcga gggatatgac acgaagaaca ctcgccagga caactccatc
     1261 cttaaggtca ccattggtat gttcctgctc tctggagatc cctgcttcaa gacgccacca
     1321 tcgactgcca agtccatctc catcccaggc caggattcct ccctgcagct gacgtgtaag
     1381 ggtggtggga ccagcagtgg gggcagcagc accaactccc tgactgggtc ccggcccccc
     1441 aaggctcggc ccactattct cagctcaggg ctgccagagg aacccgacca gaacctgtcc
     1501 agccctgagg aggtgttcca ctctggccac tcccgcaact ccagctatgc cagccagcag
     1561 tccaagatct ccggctacag cacagagcac tcgcgctcct ccagcctctc agacctgacg
     1621 caccgccgca acacgtccac cagcagcagc gcctctgggg gccttggcat gaccgtggag
     1681 ggccctgagg gcagtgagcg ggagcaccgg cccccggaga agccgccgcg gccaccccgg
     1741 cccctgcatc tgtccgatcg ctctttcagg cggaagaagg actcggtgga gagccacccg
     1801 acctgggtgg acgacacgcg gatcgatgcg gatgccatcg tggagaagat cgtgcagagc
     1861 caggatttca cagatggcag caacaccgag gacagcaacc tccggctgtt cgtgagccgc
     1921 gatggctctg ccacgctgag cggcatccag cttgccacca gggtctcttc tggggtctac
     1981 gagccagttg tgattgaaag ccattgagga gcaggtgtcc gggctggaga agagtcctgc
     2041 tttctctgga gtccagacct gtatcattcc atgaggaact ttccccttca gatcacctct
     2101 gcgccacatc tcatccatgc ctcctccatg cactccagtc cacactcccc gtagcatcat
     2161 tccattgccc ctcccatcca tgctgggacc ctcctggccc accaaggccc aggcaccact
     2221 gtgaatattc tcctctgaac cactagaggg caggccaggc aggccaggcg ggcccgtgca
     2281 gcttgtgggc aagaaggagc tggcaaggac cggcgctgct ggagactgac ccagccctct
     2341 ggctgaggac atgcagcggc tcctaaatgt agagatgcct gtggctgagg gggcctctct
     2401 acctgtgtcc ccactcactc caggagcact ggctttggtc acgtcttagc agcagggcct
     2461 tgctccgttg ttcccttgcc ctggtggtgg gggggccaga ccacctccgg aatcctgcca
     2521 cctgtgactg tctgactgct tagtgcttca gctgtccctt ccttgtgtcc tgggggacct
     2581 gctggcggcc tcttcctggg agccatgacc tcagacccca cccacactcc agatcgagac
     2641 ccctgcctcc ccccggcaaa tgtcctcccg ctgccttgca gcctgcactt tgcacatgct
     2701 cacccccagc acagtcccac tggcccctca cctccccttc cctgagctcc ttcccaagga
     2761 ctcctggtca ctgcctgctg tgcagtcaga ggcccagggt ccagcagccc ggcgggaacg
     2821 ggtgctgcct cttcctccag ttagctccag ctcaggtctg agacccgtgc tgagaaaggt
     2881 ctgagcaccg accgtgccct ctgcccaggg ctgggtcctg agcagctggt tttcctgcag
     2941 gaaggttgga gcaagcaaag tccttctctg ccctcagggt cagctgccca gactggggcg
     3001 gatgccagag aggcaggtgg gctgtggctg gactggtccg gagctggctt ccttaccaga
     3061 aaagcctcag ccttcctctg gaagcatccc ccgttctggg caagggggaa gggctccttt
     3121 aaggggtgtg ctttcccagt ggggagcagt ctggccctgc cccctactaa agcctctgct
     3181 ctcagcactt tcccccaagt ccttgtaact tgcttgaagg tgggttctgg ctgccagcca
     3241 gtccctggac aaactctcct gcccctttta aatttcactc attttgtata aacccagcag
     3301 gctggtgttt acttagccct gtagcttttt tcattttttc tttccgtctt tcttcttgag
     3361 ttcacggttc aatattgcct cctcgccctg gtgaggggag gtgctgcttt tctgccccac
     3421 ctgccggctg gttccagcag cgctggggcc cagctggggg gccgggatgg gggcttctct
     3481 ctctgggagg ggtgcaggtg ccctccccag gctgggaggg ttccttccct agctccccat
     3541 ctgcccccgc tggtgagagt tgggcttctt ggtcttggaa ctccctggca ttgggaacag
     3601 agcatttcca gcatttgttg ttgttttact cacctaaccc ttagaaaatg aatgttagaa
     3661 ggtgcctgcc gaggcgggac agagtgttcg ctcgcgctgg agaaggctct gctcagccct
     3721 gagagtccct tcctgcccca ccgatactgg cactttaaaa aggaagctga ccgcacagtg
     3781 tccagacgaa ttggccccca gaagatgggg agttctgtcc tgcccttctg tgtctgcgtg
     3841 acctcaccca gcctaggagg gaggtgcatt cagggtagat ttgcctctca ttcaaagttc
     3901 tggggctttg ggtggaaaac agccagcttt ggcgctgttg gggagactcc tccagaccag
     3961 gaaccccaga aggagacaga gcctgccaca tcctcccacg ccaggccctg ggccagggtg
     4021 attggactga gaatttggcc acaaccaaat tgatgctggc tggaaccaga ggccagaaag
     4081 cctggccttg tccccatgtg ggagccctgt cctcagccct cttgtcccct tgagctcagt
     4141 gaattcccac caggtgccca cagctcctgg acttcaaatt ctatatattg agagagttgg
     4201 agagtatatc agagatattt ttggaaagga gttggtctat gcaatgtcag tttggaatct
     4261 tcttgaaagt ttaatgtttt tattaggaga tttaaagaaa ataaaggtct acaatatctt
     4321 taggtttttt ttttttcctg tttaccgcac aaactgacca catggcatgt ctatcaggat
     4381 ggagggtgtc catgttctcc tctgtcttta gggaggtgat aaggagatgg gcggaggggt
     4441 gtttttttct ttgactcccc tcctttctaa cagaatgttg ccaccactgc ttgagtgggc
     4501 tgtgtttgtt cctctgtccc agcttctgtt gtagaaaata acattgttag gggaactcag
     4561 gctagtgtca gcgtcttggt ttggggagaa aaaattaaat gtttcggttt ttgtttc
//
LOCUS       NM_001035267             676 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein L41 (RPL41), transcript variant 2,
            mRNA.
ACCESSION   NM_001035267
VERSION     NM_001035267.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 676)
  AUTHORS   Geng W, Ren J, Shi H, Qin F, Xu X, Xiao S, Jiao Y and Wang A.
  TITLE     RPL41 sensitizes retinoblastoma cells to chemotherapeutic drugs via
            ATF4 degradation
  JOURNAL   J Cell Physiol 236 (3), 2214-2225 (2021)
   PUBMED   32783256
  REMARK    GeneRIF: RPL41 sensitizes retinoblastoma cells to chemotherapeutic
            drugs via ATF4 degradation.
REFERENCE   2  (bases 1 to 676)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 676)
  AUTHORS   Yang G and Zong H.
  TITLE     Overexpression of PDZK1IP1, EEF1A2 and RPL41 genes in intrahepatic
            cholangiocarcinoma
  JOURNAL   Mol Med Rep 13 (6), 4786-4790 (2016)
   PUBMED   27082702
  REMARK    GeneRIF: Differential gene expression analysis demonstrated
            significant upregulation of PDZK1IP1, EEF1A2 and RPL41
            (ENSG00000279483) genes in the intrahepatic cholangiocarcinoma
            samples when compared with the matched paratumor samples.
REFERENCE   4  (bases 1 to 676)
  AUTHORS   Behrmann E, Loerke J, Budkevich TV, Yamamoto K, Schmidt A, Penczek
            PA, Vos MR, Burger J, Mielke T, Scheerer P and Spahn CM.
  TITLE     Structural snapshots of actively translating human ribosomes
  JOURNAL   Cell 161 (4), 845-857 (2015)
   PUBMED   25957688
REFERENCE   5  (bases 1 to 676)
  AUTHORS   Khatter H, Myasnikov AG, Natchiar SK and Klaholz BP.
  TITLE     Structure of the human 80S ribosome
  JOURNAL   Nature 520 (7549), 640-645 (2015)
   PUBMED   25901680
REFERENCE   6  (bases 1 to 676)
  AUTHORS   Go H, Miyado K and Taniguchi S.
  TITLE     Genomic structure of the human ribosomal protein L41 gene
  JOURNAL   Biochem Mol Biol Int 46 (6), 1227-1231 (1998)
   PUBMED   9891856
REFERENCE   7  (bases 1 to 676)
  AUTHORS   Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ,
            Tanaka T and Page DC.
  TITLE     A map of 75 human ribosomal protein genes
  JOURNAL   Genome Res 8 (5), 509-523 (1998)
   PUBMED   9582194
REFERENCE   8  (bases 1 to 676)
  AUTHORS   Lee JH, Kim JM, Kim MS, Lee YT, Marshak DR and Bae YS.
  TITLE     The highly basic ribosomal protein L41 interacts with the beta
            subunit of protein kinase CKII and stimulates phosphorylation of DNA
            topoisomerase IIalpha by CKII
  JOURNAL   Biochem Biophys Res Commun 238 (2), 462-467 (1997)
   PUBMED   9299532
REFERENCE   9  (bases 1 to 676)
  AUTHORS   Wool IG, Chan YL and Gluck A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   10  (bases 1 to 676)
  AUTHORS   Klaudiny J, von der Kammer H and Scheit KH.
  TITLE     Characterization by cDNA cloning of the mRNA of a highly basic human
            protein homologous to the yeast ribosomal protein YL41
  JOURNAL   Biochem Biophys Res Commun 187 (2), 901-906 (1992)
   PUBMED   1326959
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DA604697.1, SRR1163658.187316.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000546591.6/ ENSP00000449026.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF673574.1, BC082759.1,
            BC064907.1 and AC034102.32.
            On Nov 23, 2018 this sequence version replaced NM_001035267.1.
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 60S subunit. The protein, which
            shares sequence similarity with the yeast ribosomal protein YL41,
            belongs to the L41E family of ribosomal proteins. It is located in
            the cytoplasm. The protein can interact with the beta subunit of
            protein kinase CKII and can stimulate the phosphorylation of DNA
            topoisomerase II-alpha by CKII. Two alternative splice variants
            have been identified, both encoding the same protein. As is typical
            for genes encoding ribosomal proteins, there are multiple processed
            pseudogenes of this gene dispersed through the genome. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (2) is the longer transcript,
            containing a unique segment in the 5' UTR, compared to variant 1.
            Variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..676
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..676
                     /gene="RPL41"
                     /gene_synonym="eL41; L41"
                     /note="ribosomal protein L41"
                     /db_xref="GeneID:6171"
                     /db_xref="HGNC:HGNC:10354"
                     /db_xref="MIM:613315"
     misc_feature    1
                     /gene="RPL41"
                     /gene_synonym="eL41; L41"
                     /note="predominant transcription initiation site"
     misc_feature    81..83
                     /gene="RPL41"
                     /gene_synonym="eL41; L41"
                     /note="upstream in-frame stop codon"
     CDS             156..233
                     /gene="RPL41"
                     /gene_synonym="eL41; L41"
                     /note="60S ribosomal protein L41; homologue of yeast
                     ribosomal protein YL41; HG12 protein"
                     /codon_start=1
                     /product="large ribosomal subunit protein eL41"
                     /protein_id="NP_001030344.1"
                     /db_xref="CCDS:CCDS44919.1"
                     /db_xref="GeneID:6171"
                     /db_xref="HGNC:HGNC:10354"
                     /db_xref="MIM:613315"
                     /translation="MRAKWRKKRMRRLKRKRRKMRQRSK"
     misc_feature    156..230
                     /gene="RPL41"
                     /gene_synonym="eL41; L41"
                     /note="propagated from UniProtKB/Swiss-Prot (P62945.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      533..538
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL41"
                     /gene_synonym="eL41; L41"
                     /note="hexamer: ATTAAA"
     polyA_site      541
                     /gene="RPL41"
                     /gene_synonym="eL41; L41"
                     /note="major polyA site"
     polyA_site      635
                     /gene="RPL41"
                     /gene_synonym="eL41; L41"
     regulatory      638..643
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPL41"
                     /gene_synonym="eL41; L41"
                     /note="hexamer: TATAAA"
     polyA_site      676
                     /gene="RPL41"
                     /gene_synonym="eL41; L41"
ORIGIN
        1 ctctcggcct tagcgccatt tttttgggtg agtgtttttt ggttcctgcg ttgggattcc
       61 gtgtacaatc catagacatc tgacctcggc acttagcatc atcacagcaa actaactgta
      121 gcctttctct ctttccctgt agaaacctct gcgccatgag agccaagtgg aggaagaagc
      181 gaatgcgcag gctgaagcgc aaaagaagaa agatgaggca gaggtccaag taaaccgcta
      241 gcttgttgca ccgtggaggc cacaggagca gaaacatgga atgccagacg ctggggatgc
      301 tggtacaagt tgtgggactg catgctactg tctagagctt gtctcaatgg atctagaact
      361 tcatcgccct ctgatcgccg atcacctctg agacccacct tgctcataaa caaaatgccc
      421 atgttggtcc tctgccctgg acctgtgaca ttctggacta tttctgtgtt tatttgtggc
      481 cgagtgtaac aaccatataa taaatcacct cttccgctgt tttagctgaa gaattaaatc
      541 atcttgtcta ttatgttttt tatggttcca tcgggtgggg gttttctgtc attagagttt
      601 gccctgtcac tacctgtgct atggagggta tcaaagctat aaaggcaaca gcccgggtta
      661 cgtggtgtgg tttgca
//
LOCUS       NM_001035521            3607 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens general transcription factor IIIC subunit 2 (GTF3C2),
            transcript variant 2, mRNA.
ACCESSION   NM_001035521
VERSION     NM_001035521.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3607)
  AUTHORS   Peng F, Zhou Y, Wang J, Guo B, Wei Y, Deng H, Wu Z, Zhang C, Shi K,
            Li Y, Wang X, Shore P, Zhao S and Deng W.
  TITLE     The transcription factor Sp1 modulates RNA polymerase III gene
            transcription by controlling BRF1 and GTF3C2 expression in human
            cells
  JOURNAL   J Biol Chem 295 (14), 4617-4630 (2020)
   PUBMED   32115405
  REMARK    GeneRIF: The transcription factor Sp1 modulates RNA polymerase III
            gene transcription by controlling BRF1 and GTF3C2 expression in
            human cells.
REFERENCE   2  (bases 1 to 3607)
  AUTHORS   Kantidakis T, Ramsbottom BA, Birch JL, Dowding SN and White RJ.
  TITLE     mTOR associates with TFIIIC, is found at tRNA and 5S rRNA genes, and
            targets their repressor Maf1
  JOURNAL   Proc Natl Acad Sci U S A 107 (26), 11823-11828 (2010)
   PUBMED   20543138
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2012 Jul 10;109(28):11465]
REFERENCE   3  (bases 1 to 3607)
  AUTHORS   Dumay-Odelot H, Marck C, Durrieu-Gaillard S, Lefebvre O, Jourdain S,
            Prochazkova M, Pflieger A and Teichmann M.
  TITLE     Identification, molecular cloning, and characterization of the sixth
            subunit of human transcription factor TFIIIC
  JOURNAL   J Biol Chem 282 (23), 17179-17189 (2007)
   PUBMED   17409385
REFERENCE   4  (bases 1 to 3607)
  AUTHORS   Beausoleil SA, Villen J, Gerber SA, Rush J and Gygi SP.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
REFERENCE   5  (bases 1 to 3607)
  AUTHORS   Innes F, Ramsbottom B and White RJ.
  TITLE     A test of the model that RNA polymerase III transcription is
            regulated by selective induction of the 110 kDa subunit of TFIIIC
  JOURNAL   Nucleic Acids Res 34 (11), 3399-3407 (2006)
   PUBMED   16822860
  REMARK    GeneRIF: Evidence against the model that pol III transcription can
            be effectively modulated through the specific induction of
            TFIIIC110. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3607)
  AUTHORS   Wang Z and Roeder RG.
  TITLE     DNA topoisomerase I and PC4 can interact with human TFIIIC to
            promote both accurate termination and transcription reinitiation by
            RNA polymerase III
  JOURNAL   Mol Cell 1 (5), 749-757 (1998)
   PUBMED   9660958
REFERENCE   7  (bases 1 to 3607)
  AUTHORS   Oettel S, Hartel F, Kober I, Iben S and Seifart KH.
  TITLE     Human transcription factors IIIC2, IIIC1 and a novel component IIIC0
            fulfil different aspects of DNA binding to various pol III genes
  JOURNAL   Nucleic Acids Res 25 (12), 2440-2447 (1997)
   PUBMED   9171097
REFERENCE   8  (bases 1 to 3607)
  AUTHORS   Chu WM, Wang Z, Roeder RG and Schmid CW.
  TITLE     RNA polymerase III transcription repressed by Rb through its
            interactions with TFIIIB and TFIIIC2
  JOURNAL   J Biol Chem 272 (23), 14755-14761 (1997)
   PUBMED   9169441
REFERENCE   9  (bases 1 to 3607)
  AUTHORS   Sinn,E., Wang,Z., Kovelman,R. and Roeder,R.G.
  TITLE     Cloning and characterization of a TFIIIC2 subunit (TFIIIC beta)
            whose presence correlates with activation of RNA polymerase
            III-mediated transcription by adenovirus E1A expression and serum
            factors
  JOURNAL   Genes Dev 9 (6), 675-685 (1995)
   PUBMED   7729686
REFERENCE   10  (bases 1 to 3607)
  AUTHORS   Jang KL, Collins MK and Latchman DS.
  TITLE     The human immunodeficiency virus tat protein increases the
            transcription of human Alu repeated sequences by increasing the
            activity of the cellular transcription factor TFIIIC
  JOURNAL   J Acquir Immune Defic Syndr (1988) 5 (11), 1142-1147 (1992)
   PUBMED   1403646
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: D13636.1, SRR14038196.1969124.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000264720.8/ ENSP00000264720.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB286393.1, D13636.1 and BC020981.1.
            On Aug 13, 2020 this sequence version replaced NM_001035521.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3607
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..3607
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="general transcription factor IIIC subunit 2"
                     /db_xref="GeneID:2976"
                     /db_xref="HGNC:HGNC:4665"
                     /db_xref="MIM:604883"
     CDS             51..2786
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="isoform b is encoded by transcript variant 2;
                     general transcription factor 3C polypeptide 2; TFIIIC 110
                     kDa subunit; transcription factor IIIC subunit beta;
                     transcription factor IIIC 110 kDa subunit; general
                     transcription factor IIIC, polypeptide 2, beta 110kDa"
                     /codon_start=1
                     /product="general transcription factor 3C polypeptide 2
                     isoform b"
                     /protein_id="NP_001030598.1"
                     /db_xref="CCDS:CCDS1749.1"
                     /db_xref="GeneID:2976"
                     /db_xref="HGNC:HGNC:4665"
                     /db_xref="MIM:604883"
                     /translation="MDTCGVGYVALGEAGPVGNMTVVDSPGQEVLNQLDVKTSSEMTSA
                     EASVEMSLPTPLPGFEDSPDQRRLPPEQESLSRLEQPDLSSEMSKVSKPRASKPGRKRG
                     GRTRKGPKRPQQPNPPSAPLVPGLLDQSNPLSTPMPKKRGRKSKAELLLLKLSKDLDRP
                     ESQSPKRPPEDFETPSGERPRRRAAQVALLYLQELAEELSTALPAPVSCPEGPKVSSPT
                     KPKKIRQPAACPGGEEVDGAPRDEDFFLQVEAEDVEESEGPSESSSEPEPVVPRSTPRG
                     STSGKQKPHCRGMAPNGLPNHIMAPVWKCLHLTKDFREQKHSYWEFAEWIPLAWKWHLL
                     SELEAAPYLPQEEKSPLFSVQREGLPEDGTLYRINRFSSITAHPERWDVSFFTGGPLWA
                     LDWCPVPEGAGASQYVALFSSPDMNETHPLSQLHSGPGLLQLWGLGTLQQESCPGNRAH
                     FVYGIACDNGCIWDLKFCPSGAWELPGTPRKAPLLPRLGLLALACSDGKVLLFSLPHPE
                     ALLAQQPPDAVKPAIYKVQCVATLQVGSMQATDPSECGQCLSLAWMPTRPHQHLAAGYY
                     NGMVVFWNLPTNSPLQRIRLSDGSLKLYPFQCFLAHDQAVRTLQWCKANSHFLVSAGSD
                     RKIKFWDLRRPYEPINSIKRFLSTELAWLLPYNGVTVAQDNCYASYGLCGIHYIDAGYL
                     GFKAYFTAPRKGTVWSLSGSDWLGTIAAGDISGELIAAILPDMALNPINVKRPVERRFP
                     IYKADLIPYQDSPEGPDHSSASSGVPNPPKARTYTETVNHHYLLFQDTDLGSFHDLLRR
                     EPMLRMQEGEGHSQLCLDRLQLEAIHKVRFSPNLDSYGWLVSGGQSGLVRIHFVRGLAS
                     PLGHRMQLESRAHFNAMFQPSSPTRRPGFSPTSHRLLPTP"
     misc_feature    120..611
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUA4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    237..239
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8WUA4.2); phosphorylation site"
     misc_feature    444..446
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WUA4.2); phosphorylation site"
     misc_feature    543..545
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8WUA4.2); phosphorylation site"
     misc_feature    549..551
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WUA4.2); phosphorylation site"
     misc_feature    663..941
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUA4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    708..710
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8WUA4.2); phosphorylation site"
     misc_feature    828..830
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8WUA4.2); phosphorylation site"
     misc_feature    1146..1328
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUA4.2);
                     Region: WD 1"
     misc_feature    1329..1499
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUA4.2);
                     Region: WD 2"
     misc_feature    1500..1655
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUA4.2);
                     Region: WD 3"
     misc_feature    1656..1859
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUA4.2);
                     Region: WD 4"
     misc_feature    1839..1841
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WUA4.2); phosphorylation site"
     misc_feature    1860..2012
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUA4.2);
                     Region: WD 5"
     misc_feature    2013..2120
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUA4.2);
                     Region: WD 6"
     misc_feature    2343..2405
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUA4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2661..2663
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WUA4.2); phosphorylation site"
     misc_feature    2715..2783
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WUA4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2724..2726
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q8WUA4.2); phosphorylation site"
     misc_feature    2727..2729
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8WUA4.2); phosphorylation site"
     misc_feature    2733..2735
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8WUA4.2); phosphorylation site"
     misc_feature    2751..2753
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8WUA4.2); phosphorylation site"
     regulatory      3110..3115
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="hexamer: AGTAAA"
     polyA_site      3135
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="major polyA site"
     regulatory      3584..3589
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="hexamer: ATTAAA"
     polyA_site      3607
                     /gene="GTF3C2"
                     /gene_synonym="TF3C-beta; TFIIIC-BETA; TFIIIC110"
                     /note="major polyA site"
ORIGIN
        1 agacttccgg aaggactttg gcgagggggc agccattttg gggggtgctg atggatacct
       61 gcggggtcgg ctatgttgcc ctgggggagg ccggccccgt ggggaacatg actgtggtag
      121 actctcctgg acaagaggtg ctaaatcagc ttgatgtcaa gacctcttca gaaatgacca
      181 gtgcagaggc ttccgtagag atgtcattac ctaccccttt gcctggattt gaggattctc
      241 ctgatcagag gaggctccct ccagagcagg aaagcctctc cagactggaa cagccagatc
      301 tttcttcaga gatgtcaaag gtctcaaagc ctagggcctc aaagcctggc cggaagagag
      361 gtggtaggac acgaaaaggc cccaaaaggc cccaacagcc taatcctcca tcagccccac
      421 tggttcctgg tctcttagat caatccaacc ctctgtccac ccccatgcct aagaaacgag
      481 gtcgaaagtc caaggcagag ctgctgctgc tgaagttgtc aaaagaccta gatcggccag
      541 aatctcaatc tccaaagagg ccccctgagg actttgagac cccttctggg gaacgacccc
      601 gccgaagggc tgcccaagtg gcacttctgt atcttcagga actggctgaa gagctctcaa
      661 cagccctgcc tgcccctgtg tcctgtcctg agggccccaa ggtgagcagc cccaccaaac
      721 cgaagaagat ccggcagcca gcagcctgtc caggtggaga agaggtggat ggtgctccac
      781 gggatgaaga cttttttctc caggttgagg ctgaagatgt ggaagaaagt gagggcccaa
      841 gtgagagctc atctgaacct gagcctgtag tgccccgaag caccccacga ggatctactt
      901 cagggaaaca gaaaccacac tgccgaggaa tggctcccaa tggcttacca aatcatatca
      961 tggctcctgt ttggaagtgc ctccatctca ccaaggactt ccgagagcag aaacattcat
     1021 actgggagtt tgctgagtgg attcctttag cctggaagtg gcacttgtta tctgagcttg
     1081 aggccgctcc ctacctgccc caggaggaga agtctccatt gttttctgta caacgtgaag
     1141 ggctacctga agatggcacc ctctaccgaa taaacagatt tagctcgatc acagcacatc
     1201 cagagcgctg ggatgtgtcc ttcttcacgg ggggaccgct ctgggctctg gactggtgcc
     1261 cagtgccaga gggggcagga gcctcgcaat atgtggctct tttctccagc cctgacatga
     1321 atgagacaca cccactgagc cagcttcatt cgggtcctgg gctgctccag ctctggggcc
     1381 ttgggacctt gcagcaagaa agctgtcctg gcaacagggc ccactttgtc tatgggattg
     1441 cttgtgacaa cggctgcatc tgggacctca agttctgccc cagtggagca tgggaacttc
     1501 caggcacccc tcggaaggct cctctcctgc cccggttggg tctcttggct ctggcctgct
     1561 cagacgggaa agtactgcta ttcagtctac cccatccgga ggccctgctg gctcagcaac
     1621 ccccagatgc agtgaagcct gccatatata aggtacaatg tgtggcaact ctgcaggtgg
     1681 ggtctatgca agctacagac ccctctgagt gtggtcagtg ccttagcctg gcctggatgc
     1741 ctaccaggcc ccaccaacac ctagctgctg gatattataa tggcatggtg gttttctgga
     1801 accttcccac taactcaccc ctgcagcgga tacggctctc tgatggctcc ttaaagctct
     1861 accccttcca gtgtttccta gcccatgacc aggctgtgcg tacccttcaa tggtgcaaag
     1921 ctaacagcca tttccttgtc tctgcgggga gtgaccggaa aatcaaattc tgggaccttc
     1981 gacgtcctta cgaacccata aactctatca agcgcttctt gagtacagaa ctggcctggc
     2041 tgcttcccta caatggtgtc actgtggctc aggacaactg ctatgcctct tatggactct
     2101 gtgggattca ttatattgac gctggttacc ttggtttcaa ggcctacttc actgctcctc
     2161 gaaaaggcac cgtttggagt ctttcaggat ccgactggct tgggacaata gctgcaggag
     2221 atatatccgg ggagctcatt gctgctatat taccagatat ggcactgaat ccaataaatg
     2281 tcaagcgacc tgtagagcga agatttccta tatataaagc agatctgata ccgtatcagg
     2341 acagtcctga aggtccagac cattcttctg cttcatctgg ggtccccaac cctcctaagg
     2401 ctcgaactta cactgaaact gtcaaccatc actacttgct ctttcaagac acagatttgg
     2461 gttcattcca tgatctgctc cgtagagaac caatgctgcg catgcaggag ggagaggggc
     2521 attctcaact ctgcctggac aggctgcagc tggaggctat tcataaggta cgtttcagcc
     2581 caaacctgga ctcctatgga tggctggtat ctggggggca gtcagggctg gttcgaatcc
     2641 attttgtccg tggactcgcc tccccactgg gccaccgtat gcagcttgaa agccgagccc
     2701 acttcaatgc tatgttccaa ccatcctccc ccactagacg gcctggcttc tctccaacca
     2761 gccatcgcct tctgcccact ccctagcctt ggcccacacc agatccttgg agtgaagtcg
     2821 gtcaagaaca aatggcccct atgcacagag ccataggaac tgggggcctt ccctggacag
     2881 tgatcatgcc aggcctggac ctttaggcct gcctccccag gactccttag atcccactct
     2941 ttctacagac ttctgtgatc acagccccct gcgggcaggg gggctctccc tccaccaact
     3001 ctcaaggctc ctcagcctaa gactatggct catgagaaac actcaggcct gacctaggct
     3061 tgggagtcaa actgctcata ttgagcatat tgttaagtgg gtaaagccaa gtaaaggtac
     3121 tgggtgtttt tgtgaccact tgtgaatggg tgtatggaga actgaaaagg gtatctgcat
     3181 gaaggctcct gtctgactat tccaggatcc aatattactg ccttctgaaa cttcctcttt
     3241 agggtaacca tcatgtatgc ccacgagggt gatagtaatt cgtgagactg aagttgctta
     3301 gagtacttct ttgaccaagg aataccacag acaccctacc gatagaacag tggctcagat
     3361 cttacttgct cctgcttacg aagtattccc aatcactggt catctgaccc tacttgaaca
     3421 ctcctgaaca gtcatgtttt ttaaaatctt cctttatatc aagtcagaga gtatacttct
     3481 ataaatttca ctcatggatg ttaggaaatc tagtcatctt ccctgtgatt gccctgttaa
     3541 gtatttaacc atagctatca tgtgtttccc aaatcttctc tagattaaat atcttcagtt
     3601 acttcaa
//
LOCUS       NM_001036              15568 bp    mRNA    linear   PRI 10-APR-2023
DEFINITION  Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1,
            mRNA.
ACCESSION   NM_001036
VERSION     NM_001036.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 15568)
  AUTHORS   Pergande M, Motameny S, Ozdemir O, Kreutzer M, Wang H, Daimaguler
            HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao
            CM, Kawalia A, Duman O, Koy A, Hahn A, Reimann J, Schoner K,
            Schanzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille
            M, von Pein H, Haliloglu G, Topaloglu H, Altmuller J, Nurnberg P,
            Thiele H, Heller R and Cirak S.
  TITLE     The genomic and clinical landscape of fetal akinesia
  JOURNAL   Genet Med 22 (3), 511-523 (2020)
   PUBMED   31680123
  REMARK    GeneRIF: The genomic and clinical landscape of fetal akinesia.
            Erratum:[Genet Med. 2020 May 26;:. PMID: 32451403]
REFERENCE   2  (bases 1 to 15568)
  AUTHORS   O' Donnell AM, Nakamura H and Puri P.
  TITLE     Altered ryanodine receptor gene expression in Hirschsprung's disease
  JOURNAL   Pediatr Surg Int 35 (9), 923-927 (2019)
   PUBMED   31263958
  REMARK    GeneRIF: The Ryr Ca2+ release channel is central to cytoplasmic Ca2+
            signalling in skeletal muscle, the heart, and many other tissues,
            playing a vital role in muscular contraction.
REFERENCE   3  (bases 1 to 15568)
  AUTHORS   Gong S, Su BB, Tovar H, Mao C, Gonzalez V, Liu Y, Lu Y, Wang KS and
            Xu C.
  TITLE     Polymorphisms Within RYR3 Gene Are Associated With Risk and Age at
            Onset of Hypertension, Diabetes, and Alzheimer's Disease
  JOURNAL   Am J Hypertens 31 (7), 818-826 (2018)
   PUBMED   29590321
  REMARK    GeneRIF: RYR3 variants are associated with risk of and age of onset
            for hypertension, diabetes, and Alzheimer disease.
REFERENCE   4  (bases 1 to 15568)
  AUTHORS   Yang F, Zhu XH, Zhang Q, Sun NX, Ji YX, Ma JZ, Xiao B, Ding HX, Sun
            SH and Li W.
  TITLE     Genomic Characteristics of Gender Dysphoria Patients and
            Identification of Rare Mutations in RYR3 Gene
  JOURNAL   Sci Rep 7 (1), 8339 (2017)
   PUBMED   28827537
  REMARK    GeneRIF: Mutations in RYR3 Gene is associated with Gender Dysphoria.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 15568)
  AUTHORS   Chang YC, Chiu YF, He CT, Sheu WH, Lin MW, Seto TB, Assimes T, Jou
            YS, Su L, Lee WJ, Lee PC, Tsai SH and Chuang LM.
  TITLE     Genome-wide linkage analysis and regional fine mapping identified
            variants in the RYR3 gene as a novel quantitative trait locus for
            circulating adiponectin in Chinese population
  JOURNAL   Medicine (Baltimore) 95 (44), e5174 (2016)
   PUBMED   27858853
  REMARK    GeneRIF: a genome-wide linkage scan and regional association
            fine-mapping identified variants in the RYR3 gene as a quantitative
            trail locus for plasma adiponectin levels in Chinese population
REFERENCE   6  (bases 1 to 15568)
  AUTHORS   Bertocchini F, Ovitt CE, Conti A, Barone V, Scholer HR, Bottinelli
            R, Reggiani C and Sorrentino V.
  TITLE     Requirement for the ryanodine receptor type 3 for efficient
            contraction in neonatal skeletal muscles
  JOURNAL   EMBO J 16 (23), 6956-6963 (1997)
   PUBMED   9384575
  REMARK    GeneRIF: RyR3 is expressed in all murine skeletal muscles during the
            post-natal phase of muscle development and in fewer muscles in adult
            mice. In agreement, RyR3 KO mice present impaired contractility
            during the first weeks after birth but not in adult life.
REFERENCE   7  (bases 1 to 15568)
  AUTHORS   Lynn S, Morgan JM, Lamb HK, Meissner G and Gillespie JI.
  TITLE     Isolation and partial cloning of ryanodine-sensitive Ca2+ release
            channel protein isoforms from human myometrial smooth muscle
  JOURNAL   FEBS Lett 372 (1), 6-12 (1995)
   PUBMED   7556644
REFERENCE   8  (bases 1 to 15568)
  AUTHORS   Hakamata Y, Nishimura S, Nakai J, Nakashima Y, Kita T and Imoto K.
  TITLE     Involvement of the brain type of ryanodine receptor in T-cell
            proliferation
  JOURNAL   FEBS Lett 352 (2), 206-210 (1994)
   PUBMED   7523185
REFERENCE   9  (bases 1 to 15568)
  AUTHORS   Sorrentino V, Giannini G, Malzac P and Mattei MG.
  TITLE     Localization of a novel ryanodine receptor gene (RYR3) to human
            chromosome 15q14-q15 by in situ hybridization
  JOURNAL   Genomics 18 (1), 163-165 (1993)
   PUBMED   8276408
REFERENCE   10  (bases 1 to 15568)
  AUTHORS   Giannini G, Clementi E, Ceci R, Marziali G and Sorrentino V.
  TITLE     Expression of a ryanodine receptor-Ca2+ channel that is regulated by
            TGF-beta
  JOURNAL   Science 257 (5066), 91-94 (1992)
   PUBMED   1320290
  REMARK    GeneRIF: This is the first published report on RyR3 and also
            establishes the first evidence of wide expression of the RyR3 gene.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AJ001515.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03465404
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000634891.2/ ENSP00000489262.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC055874.8, AC067793.9,
            AC011938.4, AC087638.7 and AC010809.10.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 23, 2020 this sequence version replaced NM_001036.5.
            Summary: The protein encoded by this gene is a ryanodine receptor,
            which functions to release calcium from intracellular storage for
            use in many cellular processes. For example, the encoded protein is
            involved in skeletal muscle contraction by releasing calcium from
            the sarcoplasmic reticulum followed by depolarization of T-tubules.
            Two transcript variants encoding different isoforms have been found
            for this gene. [provided by RefSeq, Sep 2011].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..15568
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.3-q14"
     gene            1..15568
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="ryanodine receptor 3"
                     /db_xref="GeneID:6263"
                     /db_xref="HGNC:HGNC:10485"
                     /db_xref="MIM:180903"
     CDS             80..14692
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     brain-type ryanodine receptor; brain ryanodine
                     receptor-calcium release channel; type 3 ryanodine
                     receptor"
                     /codon_start=1
                     /product="ryanodine receptor 3 isoform 1"
                     /protein_id="NP_001027.3"
                     /db_xref="CCDS:CCDS45210.1"
                     /db_xref="GeneID:6263"
                     /db_xref="HGNC:HGNC:10485"
                     /db_xref="MIM:180903"
                     /translation="MAEGGEGGEDEIQFLRTEDEVVLQCIATIHKEQRKFCLAAEGLGN
                     RLCFLEPTSEAKYIPPDLCVCNFVLEQSLSVRALQEMLANTGENGGEGAAQGGGHRTLL
                     YGHAVLLRHSFSGMYLTCLTTSRSQTDKLAFDVGLREHATGEACWWTIHPASKQRSEGE
                     KVRIGDDLILVSVSSERYLHLSVSNGNIQVDASFMQTLWNVHPTCSGSSIEEGYLLGGH
                     VVRLFHGHDECLTIPSTDQNDSQHRRIFYEAGGAGTRARSLWRVEPLRISWSGSNIRWG
                     QAFRLRHLTTGHYLALTEDQGLILQDRAKSDTKSTAFSFRASKELKEKLDSSHKRDIEG
                     MGVPEIKYGDSVCFVQHIASGLWVTYKAQDAKTSRLGPLKRKVILHQEGHMDDGLTLQR
                     CQREESQAARIIRNTTALFSQFVSGNNRTAAPITLPIEEVLQTLQDLIAYFQPPEEEMR
                     HEDKQNKLRSLKNRQNLFKEEGMLALVLNCIDRLNVYNSVAHFAGIAREESGMAWKEIL
                     NLLYKLLAALIRGNRNNCAQFSNNLDWLISKLDRLESSSGILEVLHCILTESPEALNLI
                     AEGHIKSIISLLDKHGRNHKVLDILCSLCLCNGVAVRANQNLICDNLLPRRNLLLQTRL
                     INDVTSIRPNIFLGVAEGSAQYKKWYFELIIDQVDPFLTAEPTHLRVGWASSSGYAPYP
                     GGGEGWGGNGVGDDLYSYGFDGLHLWSGRIPRAVASINQHLLRSDDVVSCCLDLGVPSI
                     SFRINGQPVQGMFENFNTDGLFFPVMSFSAGVKVRFLMGGRHGEFKFLPPSGYAPCYEA
                     LLPKEKMRLEPVKEYKRDADGIRDLLGTTQFLSQASFIPCPVDTSQVILPPHLEKIRDR
                     LAENIHELWGMNKIELGWTFGKIRDDNKRQHPCLVEFSKLPETEKNYNLQMSTETLKTL
                     LALGCHIAHVNPAAEEDLKKVKLPKNYMMSNGYKPAPLDLSDVKLLPPQEILVDKLAEN
                     AHNVWAKDRIKQGWTYGIQQDLKNKRNPRLVPYALLDERTKKSNRDSLREAVRTFVGYG
                     YNIEPSDQELADSAVEKVSIDKIRFFRVERSYAVRSGKWYFEFEVVTGGDMRVGWARPG
                     CRPDVELGADDQAFVFEGNRGQRWHQGSGYFGRTWQPGDVVGCMINLDDASMIFTLNGE
                     LLITNKGSELAFADYEIENGFVPICCLGLSQIGRMNLGTDASTFKFYTMCGLQEGFEPF
                     AVNMNRDVAMWFSKRLPTFVNVPKDHPHIEVMRIDGTMDSPPCLKVTHKTFGTQNSNAD
                     MIYCRLSMPVECHSSFSHSPCLDSEAFQKRKQMQEILSHTTTQCYYAIRIFAGQDPSCV
                     WVGWVTPDYHLYSEKFDLNKNCTVTVTLGDERGRVHESVKRSNCYMVWGGDIVASSQRS
                     NRSNVDLEIGCLVDLAMGMLSFSANGKELGTCYQVEPNTKVFPAVFLQPTSTSLFQFEL
                     GKLKNAMPLSAAIFRSEEKNPVPQCPPRLDVQTIQPVLWSRMPNSFLKVETERVSERHG
                     WVVQCLEPLQMMALHIPEENRCVDILELCEQEDLMRFHYHTLRLYSAVCALGNSRVAYA
                     LCSHVDLSQLFYAIDNKYLPGLLRSGFYDLLISIHLASAKERKLMMKNEYIIPITSTTR
                     NIRLFPDESKRHGLPGVGLRTCLKPGFRFSTPCFVVTGEDHQKQSPEIPLESLRTKALS
                     MLTEAVQCSGAHIRDPVGGSVEFQFVPVLKLIGTLLVMGVFDDDDVRQILLLIDPSVFG
                     EHSAGTEEGAEKEEVTQVEEKAVEAGEKAGKEAPVKGLLQTRLPESVKLQMCELLSYLC
                     DCELQHRVEAIVAFGDIYVSKLQANQKFRYNELMQALNMSAALTARKTKEFRSPPQEQI
                     NMLLNFQLGENCPCPEEIREELYDFHEDLLLHCGVPLEEEEEEEEDTSWTGKLCALVYK
                     IKGPPKPEKEQPTEEEERCPTTLKELISQTMICWAQEDQIQDSELVRMMFNLLRRQYDS
                     IGELLQALRKTYTISHTSVSDTINLLAALGQIRSLLSVRMGKEEELLMINGLGDIMNNK
                     VFYQHPNLMRVLGMHETVMEVMVNVLGTEKSQIAFPKMVASCCRFLCYFCRISRQNQKA
                     MFEHLSYLLENSSVGLASPSMRGSTPLDVAASSVMDNNELALSLEEPDLEKVVTYLAGC
                     GLQSCPMLLAKGYPDVGWNPIEGERYLSFLRFAVFVNSESVEENASVVVKLLIRRPECF
                     GPALRGEGGNGLLAAMQGAIKISENPALDLPSQGYKREVSTGDDEEEEEIVHMGNAIMS
                     FYSALIDLLGRCAPEMHLIQTGKGEAIRIRSILRSLVPTEDLVGIISIPLKLPSLNKDG
                     SVSEPDMAANFCPDHKAPMVLFLDRVYGIKDQTFLLHLLEVGFLPDLRASASLDTVSLS
                     TTEAALALNRYICSAVLPLLTRCAPLFAGTEHCTSLIDSTLQTIYRLSKGRSLTKAQRD
                     TIEECLLAICNHLRPSMLQQLLRRLVFDVPQLNEYCKMPLKLLTNHYEQCWKYYCLPSG
                     WGSYGLAVEEELHLTEKLFWGIFDSLSHKKYDPDLFRMALPCLSAIAGALPPDYLDTRI
                     TATLEKQISVDADGNFDPKPINTMNFSLPEKLEYIVTKYAEHSHDKWACDKSQSGWKYG
                     ISLDENVKTHPLIRPFKTLTEKEKEIYRWPARESLKTMLAVGWTVERTKEGEALVQQRE
                     NEKLRSVSQANQGNSYSPAPLDLSNVVLSRELQGMVEVVAENYHNIWAKKKKLELESKG
                     GGSHPLLVPYDTLTAKEKFKDREKAQDLFKFLQVNGIIVSRGMKDMELDASSMEKRFAY
                     KFLKKILKYVDSAQEFIAHLEAIVSSGKTEKSPRDQEIKFFAKVLLPLVDQYFTSHCLY
                     FLSSPLKPLSSSGYASHKEKEMVAGLFCKLAALVRHRISLFGSDSTTMVSCLHILAQTL
                     DTRTVMKSGSELVKAGLRAFFENAAEDLEKTSENLKLGKFTHSRTQIKGVSQNINYTTV
                     ALLPILTSIFEHVTQHQFGMDLLLGDVQISCYHILCSLYSLGTGKNIYVERQRPALGEC
                     LASLAAAIPVAFLEPTLNRYNPLSVFNTKTPRERSILGMPDTVEDMCPDIPQLEGLMKE
                     INDLAESGARYTEMPHVIEVILPMLCNYLSYWWERGPENLPPSTGPCCTKVTSEHLSLI
                     LGNILKIINNNLGIDEASWMKRIAVYAQPIISKARPDLLRSHFIPTLEKLKKKAVKTVQ
                     EEEQLKADGKGDTQEAELLILDEFAVLCRDLYAFYPMLIRYVDNNRSNWLKSPDADSDQ
                     LFRMVAEVFILWCKSHNFKREEQNFVIQNEINNLAFLTGDSKSKMSKAMQVKSGGQDQE
                     RKKTKRRGDLYSIQTSLIVAALKKMLPIGLNMCTPGDQELISLAKSRYSHRDTDEEVRE
                     HLRNNLHLQEKSDDPAVKWQLNLYKDVLKSEEPFNPEKTVERVQRISAAVFHLEQVEQP
                     LRSKKAVWHKLLSKQRKRAVVACFRMAPLYNLPRHRSINLFLHGYQRFWIETEEYSFEE
                     KLVQDLAKSPKVEEEEEEETEKQPDPLHQIILYFSRNALTERSKLEDDPLYTSYSSMMA
                     KSCQSGEDEEEDEDKEKTFEEKEMEKQKTLYQQARLHERGAAEMVLQMISASKGEMSPM
                     VVETLKLGIAILNGGNAGVQQKMLDYLKEKKDAGFFQSLSGLMQSCSVLDLNAFERQNK
                     AEGLGMVTEEGTLIVRERGEKVLQNDEFTRDLFRFLQLLCEGHNSDFQNFLRTQMGNTT
                     TVNVIISTVDYLLRLQESISDFYWYYSGKDIIDESGQHNFSKALAVTKQIFNSLTEYIQ
                     GPCIGNQQSLAHSRLWDAVVGFLHVFANMQMKLSQDSSQIELLKELLDLLQDMVVMLLS
                     LLEGNVVNGTIGKQMVDTLVESSTNVEMILKFFDMFLKLKDLTSSDTFKEYDPDGKGII
                     SKKEFQKAMEGQKQYTQSEIDFLLSCAEADENDMFNYVDFVDRFHEPAKDIGFNVAVLL
                     TNLSEHMPNDSRLKCLLDPAESVLNYFEPYLGRIEIMGGAKKIERVYFEISESSRTQWE
                     KPQVKESKRQFIFDVVNEGGEQEKMELFVNFCEDTIFEMQLASQISESDSADRPEEEEE
                     DEDSSYVLEIAGEEEEDGSLEPASAFAMACASVKRNVTDFLKRATLKNLRKQYRNVKKM
                     TAKELVKVLFSFFWMLFVGLFQLLFTILGGIFQILWSTVFGGGLVEGAKNIRVTKILGD
                     MPDPTQFGIHDDTMEAERAEVMEPGITTELVHFIKGEKGDTDIMSDLFGLHPKKEGSLK
                     HGPEVGLGDLSEIIGKDEPPTLESTVQKKRKAQAAEMKAANEAEGKVESEKADMEDGEK
                     EDKDKEEEQAEYLWTEVTKKKKRRCGQKVEKPEAFTANFFKGLEIYQTKLLHYLARNFY
                     NLRFLALFVAFAINFILLFYKVTEEPLEEETEDVANLWNSFNDEEEEEAMVFFVLQEST
                     GYMAPTLRALAIIHTIISLVCVVGYYCLKVPLVVFKREKEIARKLEFDGLYITEQPSED
                     DIKGQWDRLVINTPSFPNNYWDKFVKRKVINKYGDLYGAERIAELLGLDKNALDFSPVE
                     ETKAEAASLVSWLSSIDMKYHIWKLGVVFTDNSFLYLAWYTTMSVLGHYNNFFFAAHLL
                     DIAMGFKTLRTILSSVTHNGKQLVLTVGLLAVVVYLYTVVAFNFFRKFYNKSEDDDEPD
                     MKCDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGDPYEMYRIVFDITFFFFVIVILLAII
                     QGLIIDAFGELRDQQEQVREDMETKCFICGIGNDYFDTTPHGFETHTLQEHNLANYLFF
                     LMYLINKDETEHTGQESYVWKMYQERCWDFFPAGDCFRKQYEDQLG"
     misc_feature    2597..8539
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15413.3);
                     Region: 4 X approximate repeats"
     misc_feature    7043..7084
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15413.3);
                     Region: Interaction with FKBP1A.
                     /evidence=ECO:0000269|PubMed:22100703"
     misc_feature    10484..10573
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15413.3);
                     Region: Interaction with CALM. /evidence=ECO:0000250"
     misc_feature    11726..11728
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="Important for activation by Ca(2+).
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (Q15413.3); other site"
     misc_feature    12383..12442
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15413.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    12638..12700
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15413.3);
                     transmembrane region"
     misc_feature    12989..13159
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15413.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    13307..13369
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15413.3);
                     transmembrane region"
     misc_feature    13532..13594
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15413.3);
                     transmembrane region"
     misc_feature    13907..13969
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15413.3);
                     transmembrane region"
     misc_feature    13976..14038
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15413.3);
                     transmembrane region"
     misc_feature    14093..14155
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15413.3);
                     transmembrane region"
     misc_feature    14336..14398
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15413.3);
                     transmembrane region"
     regulatory      14688..14693
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="hexamer: GATAAA"
     polyA_site      14704
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
     regulatory      15547..15552
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="hexamer: AATAAA"
     polyA_site      15568
                     /gene="RYR3"
                     /gene_synonym="CMYP20; RYR-3"
                     /note="major polyA site"
ORIGIN
        1 agcagtcagc gcacgccgag cggctgccgg gggaagcaga ggcgccggag gctggggcac
       61 cgccgacgcc tcgggagcca tggccgaagg gggagaagga ggcgaggacg agatccagtt
      121 tctgaggact gaggatgaag tggtactcca gtgcatcgcc accattcata aggagcagag
      181 gaagttctgc ctggcagccg agggacttgg gaatcgcctg tgcttcttgg aacccacttc
      241 agaagccaag tacattcctc cagatctctg cgtctgcaat tttgtgctgg aacagtccct
      301 atctgtcaga gccctgcagg aaatgcttgc caacacaggt gaaaatggcg gcgaaggggc
      361 agcacaagga ggtggccaca ggaccctgtt atacggccat gcagttctcc tgaggcactc
      421 tttcagcgga atgtatctaa catgcttgac tacatcaaga tcccagacag acaaacttgc
      481 ctttgatgta ggtctacggg aacatgccac aggagaagcc tgttggtgga ctatacatcc
      541 tgcttccaaa cagaggtccg aaggagagaa agttcgaatt ggcgatgacc tcatcctcgt
      601 cagcgtgtcc tctgaaagat accttcatct ctcagtatca aatggtaaca tacaagtgga
      661 tgcctccttt atgcaaacac tctggaatgt acatcctacg tgctcaggaa gtagcatcga
      721 agaaggatac ctacttggtg ggcatgtagt acgtcttttc catggtcatg atgaatgttt
      781 gacgatacca tctacagacc agaatgattc ccagcacagg aggatattct acgaagctgg
      841 gggagctggg actcgagcca ggtctctttg gagagtggaa ccccttcgga taagctggag
      901 tggcagtaac atcagatggg gccaggcttt ccgactccgg catctcacca caggccacta
      961 cctggccttg acagaagacc aaggccttat actgcaagac cgggcaaagt cagacaccaa
     1021 gtccacagct ttctctttcc gggcatcaaa ggaactcaag gagaaattag actccagtca
     1081 caagcgagac atagaaggca tgggagttcc agaaatcaag tatggagatt ctgtctgctt
     1141 tgtgcagcat atagccagtg gtctgtgggt gacctacaaa gcacaagacg ccaaaacttc
     1201 ccgcctggga cctctaaaaa gaaaggtcat actccatcag gaaggccaca tggatgatgg
     1261 attaacactg cagagatgcc agcgtgagga gtcccaggct gctcggatca tccggaacac
     1321 tacagcctta ttcagccagt ttgtcagcgg aaacaatcgc acagctgccc ccatcaccct
     1381 gcctatagaa gaagtcctgc agaccctaca ggacttgatc gcctacttcc agcccccaga
     1441 ggaggagatg cgacatgaag acaagcagaa caagctccgc tcactcaaaa acagacaaaa
     1501 tcttttcaag gaagagggaa tgttggccct tgtcttaaat tgcattgacc gcttaaatgt
     1561 ctacaatagc gtagcacact ttgcagggat tgcaagggaa gagagtggca tggcctggaa
     1621 agaaattctg aacctcctct acaaattgct ggctgctctc attcgcggaa acagaaacaa
     1681 ttgcgctcaa ttctccaata accttgattg gctcatcagt aaattggaca gactagaatc
     1741 ttcctcaggt atcttggaag ttttgcactg catcttaact gaaagcccag aagccttaaa
     1801 tctgatagcg gagggccaca tcaagtcgat catctccctg ttggataagc acgggcggaa
     1861 tcacaaggtt ctggatatcc tgtgctccct ctgtctctgc aatggggttg cagtgagagc
     1921 caaccagaat ctgatctgtg acaacttgct gccccggaga aacctactcc tgcagacacg
     1981 actgattaac gatgtaacca gtatccggcc aaacatcttc ctgggagtcg cggagggctc
     2041 agcccagtac aagaagtggt acttcgagct gattatcgac caggtggacc ccttcctaac
     2101 agcagagccc acacatctgc gggtgggctg ggcctcttct tcaggctatg ccccataccc
     2161 aggaggtgga gaaggatggg gaggcaatgg tgttggtgac gacctgtact cctatggctt
     2221 tgatggactt cacctttggt caggccggat acccagagct gtggcttcca tcaaccagca
     2281 cctcctgaga tcggatgacg tggtaagctg ctgcctggac ctcggggtgc ccagcatctc
     2341 attccgcatc aatgggcagc ccgtgcaggg gatgtttgag aacttcaaca cagacgggct
     2401 cttcttccct gtgatgagct tttcagcagg tgtcaaagta cgtttcctga tgggtggacg
     2461 tcatggagag tttaagttcc tgcctccctc tggctatgcc ccttgctatg aagccttact
     2521 tccaaaagag aagatgagat tggagcctgt caaagaatat aaacgtgatg ctgatggcat
     2581 tagagatctc ttgggtacca cccagttcct ctcccaagcc tctttcatcc catgccccgt
     2641 agacaccagt caggttattt tgccacctca cctagaaaag atccgagaca gactagctga
     2701 aaacatccat gagctttggg gaatgaataa aatagaactt ggctggactt tcggcaagat
     2761 acgagatgac aataaaagac aacacccttg ccttgtggag ttttcaaagc tcccagaaac
     2821 tgagaagaac tataacctgc aaatgtcaac tgaaacctta aaaaccctct tggccctggg
     2881 gtgccacatt gctcatgtta acccagctgc tgaggaggat ctcaagaagg tcaaactgcc
     2941 caaaaactat atgatgtcca acggctataa gccagcccct ttggatttgt ctgatgtgaa
     3001 gctgttacct cctcaagaaa ttttagtgga taagcttgca gaaaatgcac acaatgtttg
     3061 ggcaaaagac agaataaaac aaggatggac ctatggcatc caacaggatt tgaagaacaa
     3121 aagaaatccc cgtctggtgc catatgcatt actggatgag cgtaccaaga agtcaaacag
     3181 ggacagcctg cgggaagctg tgcgcacttt tgttggttac gggtataaca ttgagccatc
     3241 agaccaagaa ctagctgact cggctgtgga gaaggtcagc atagacaaga tccgattttt
     3301 ccgggtagag cgatcttatg cagtgagatc tggaaagtgg tattttgagt ttgaagtggt
     3361 gactggagga gacatgcgag tcggctgggc gaggccaggc tgtcgacctg atgtcgagct
     3421 gggggccgat gaccaagcct ttgtgtttga aggcaacagg ggccagcgtt ggcatcaagg
     3481 aagtgggtat tttgggcgta cctggcagcc aggggatgtg gtcggatgta tgattaacct
     3541 ggatgatgct tcaatgatct tcacactgaa tggggagctg ctgatcacca acaaaggctc
     3601 tgaacttgcc ttcgctgact acgagattga gaatggcttc gtgcccatct gctgtctggg
     3661 tctatctcag atcggccgca tgaatctcgg gacagatgcc agtaccttca agttttatac
     3721 catgtgcggt ctccaagagg gctttgagcc ttttgctgtc aacatgaaca gagatgttgc
     3781 tatgtggttc agcaagcgcc tcccgacgtt tgtcaacgtg ccaaaggatc atccacacat
     3841 agaggtcatg aggattgatg gcaccatgga cagccctccg tgtctcaagg tgacgcataa
     3901 gacatttggc acacagaata gcaatgccga catgatctat tgccgcttga gcatgcctgt
     3961 cgagtgccac tcctccttca gccacagccc ctgtctggac agtgaagctt tccagaaaag
     4021 gaaacagatg caagaaatac tctctcatac aacaacacag tgctactacg ccatccgcat
     4081 ctttgctgga caggatccat cctgtgtctg ggtcggatgg gtgactccag actatcactt
     4141 gtacagtgaa aagtttgacc tgaataaaaa ctgcacagtg actgtcaccc taggggatga
     4201 aagaggccgg gtccatgaaa gtgtgaaacg cagcaactgc tacatggtct ggggtggaga
     4261 cattgtagcc agttcccaga gatcaaatcg gagcaacgtg gacctggaga tcggctgtct
     4321 cgtggatctg gccatgggca tgttgtcctt ctcagccaat ggaaaggaac tgggcacctg
     4381 ctaccaggtg gagcctaata ccaaagtgtt tccagcagtc ttcctgcagc ctacaagtac
     4441 ttctttgttt cagtttgaac ttggaaagct gaagaacgca atgcccctgt cagcggccat
     4501 attcaggagt gaagagaaga acccagtccc acagtgtcca cctcggctgg acgtccaaac
     4561 catccagccc gtgctctgga gccgcatgcc caacagcttc ctgaaggtgg agaccgagcg
     4621 tgtgagcgag cgccacggct gggtggtgca gtgcctggag cccctgcaga tgatggcgct
     4681 ccacatcccc gaggagaaca ggtgtgtgga tatcctggag ctctgtgagc aggaggacct
     4741 gatgcggttc cattaccaca cgctgaggct ctacagcgcg gtgtgcgccc tgggaaacag
     4801 ccgcgtggcc tacgccctgt gcagccacgt ggacctctcc cagctcttct atgccattga
     4861 caacaagtac ctccccggcc tccttcgatc tggtttctat gacctgctca tcagcatcca
     4921 cctggccagc gccaaggaga ggaagctgat gatgaagaac gagtacatca tccccattac
     4981 cagcaccacc aggaatatcc gcctcttccc ggacgagtcc aagaggcatg gactgcctgg
     5041 ggtgggcctg agaacatgtc tcaagcccgg gttcaggttc tccacccctt gctttgttgt
     5101 gactggtgag gatcaccaaa agcagagccc cgagattccc ttggagagtc tcaggacgaa
     5161 ggctctgagt atgctgacag aggcagtgca gtgcagcggg gcccacatcc gagaccctgt
     5221 aggggggtct gtggagttcc agtttgtgcc tgtgctgaaa ctcattggaa ccctgctggt
     5281 catgggcgtg tttgatgatg atgatgttcg gcagatcctc ctcctgattg atccctctgt
     5341 gtttggggag catagtgcgg ggacagagga gggagcagaa aaggaggaag tgacccaggt
     5401 ggaggagaag gctgtggagg ctggggagaa ggccggcaag gaggctcctg tcaaaggctt
     5461 gttgcagact cgattacccg aatccgtcaa gctgcagatg tgtgagctcc tcagctatct
     5521 ctgcgactgt gagctgcagc accgagtgga ggccattgtg gcatttggtg acatttatgt
     5581 ctccaagctg caggcaaatc agaagttccg ctacaatgag ctcatgcagg ccctgaacat
     5641 gtctgcggcc ctgactgccc ggaagaccaa ggagttccgc tcacccccac aggagcagat
     5701 caacatgctg cttaactttc aactgggaga gaactgcccc tgcccagagg agattcggga
     5761 ggagctgtat gatttccatg aggaccttct ccttcactgt ggggttcctt tggaagaaga
     5821 ggaagaggag gaggaggaca cctcctggac aggaaaactc tgtgccttgg tttacaaaat
     5881 caaaggccca cccaagccag agaaggagca gccgacggag gaggaggaga gatgccccac
     5941 aacattgaag gaactcatct cacagacgat gatctgctgg gcccaggagg accagatcca
     6001 ggattcagag ctggtccgaa tgatgttcaa cctcctccgg aggcagtatg acagcattgg
     6061 ggagctgctg caggcgctgc ggaagaccta caccatcagc cacacctctg taagcgacac
     6121 catcaacctg ctggctgccc tgggccaaat ccgctccctc ctcagtgtca ggatgggcaa
     6181 ggaagaggag ttgctcatga tcaatgggct gggagacata atgaacaaca aggtgtttta
     6241 ccagcatccc aacctcatga gagtcctggg catgcacgag acggtgatgg aggtgatggt
     6301 gaacgtgttg ggtacagaga aatctcagat tgcatttcca aagatggttg ctagctgctg
     6361 ccgtttcctt tgctatttct gtcgaattag ccggcaaaat cagaaggcca tgtttgagca
     6421 tctgagttat cttctggaga atagcagtgt tggcctagcc tccccgtcga tgaggggatc
     6481 caccccgctg gatgtggcag cttcctctgt gatggacaac aatgagttag cgctgagctt
     6541 agaggaacca gacctcgaga aggtggtgac ctacttggca ggctgtggcc tacagagctg
     6601 ccccatgctt ctggccaaag gataccctga tgtcggctgg aaccccattg aaggggaacg
     6661 ctacctgtcc ttcctgaggt ttgctgtctt cgtgaacagt gagagtgtgg aagaaaacgc
     6721 cagcgttgtg gtcaagctgc tcatcagacg cccagagtgc ttcggcccgg ccctgcgggg
     6781 tgagggggga aacgggctct tggcagccat gcagggtgcc attaagatct ctgagaaccc
     6841 agcgctcgac ctcccctctc aaggatacaa aagagaagtc agcacggggg acgatgaaga
     6901 ggaagaagaa atcgtgcata tgggcaatgc aattatgtca ttttattcgg cccttataga
     6961 tctactgggc cgctgtgctc ctgaaatgca cctcatccag acaggaaagg gggaagccat
     7021 ccgcatcagg tccatcctgc gctccctggt ccccacagaa gacctggttg ggatcatcag
     7081 catccccttg aaactgccct ccctcaacaa agatgggtcg gtcagtgagc cagatatggc
     7141 ggccaatttc tgccctgacc acaaggcacc tatggtgctg ttcttggacc gcgtttatgg
     7201 cattaaggat caaacttttc tgctccactt gctggaggtt ggatttttac ctgacctaag
     7261 agcttctgcc tctctagata cagtttccct aagcaccaca gaggctgcgc ttgcactaaa
     7321 taggtatata tgttctgctg tgctcccgct cctcacaaga tgtgcccctc tctttgccgg
     7381 aacagaacac tgcacctctc tgattgattc cacactgcag acaatataca ggctatccaa
     7441 gggacgttcc ctcaccaaag cacaaaggga cactatagaa gaatgtttgc ttgccatttg
     7501 caatcacttg aggccttcca tgttacagca actcctgcga cgcctcgttt ttgatgtgcc
     7561 gcaactcaat gaatactgca aaatgcctct caagcttctg acgaatcact atgaacagtg
     7621 ttggaagtat tactgcctgc cttcaggatg ggggagctac gggctagctg tggaagaaga
     7681 gctgcaccta acggagaagc ttttctgggg gatttttgac tcgctctccc ataagaaata
     7741 tgacccagat cttttccgaa tggccctgcc ttgtctcagt gctatagctg gggccttgcc
     7801 accagattat ttagatacca gaatcacagc cacgttggag aaacagatct cagtggatgc
     7861 ggatggcaac tttgacccaa aacctattaa caccatgaat ttttccttgc ctgaaaaatt
     7921 ggaatacatc gtcaccaagt atgctgagca ttcacatgat aaatgggcct gtgacaagag
     7981 tcagagtgga tggaaatatg ggatttccct ggatgaaaat gtgaagaccc acccactgat
     8041 aaggcctttc aagacattaa cggagaagga gaaggaaatt tatcgctggc ctgcgcgaga
     8101 gtccctgaaa accatgctgg ctgtgggctg gactgtggag aggaccaaag agggagaagc
     8161 tttggttcaa cagcgggaaa atgagaagct tcgaagtgtg tcccaggcca accagggcaa
     8221 cagctacagt cctgctcccc tcgacctctc aaacgttgtg ctctccagag agctccaggg
     8281 aatggtggag gtcgtggctg agaactatca caatatctgg gccaagaaga agaagctgga
     8341 gctggagagc aaaggtggtg gcagccaccc tcttctggta ccatatgaca ccttgactgc
     8401 caaggaaaag ttcaaggacc gggagaaggc acaggacctg tttaagttcc tccaagtgaa
     8461 tggcatcata gtttccaggg gtatgaagga tatggagctg gatgcctcct ccatggagaa
     8521 gaggtttgcc tataagttct tgaagaagat cctgaaatac gttgattctg ctcaagaatt
     8581 tattgcccat ttagaagcca ttgtcagcag tgggaaaact gaaaagtctc cccgtgacca
     8641 ggagatcaaa ttctttgcca aagttctcct cccgctggtt gaccagtact tcaccagtca
     8701 ttgcctctac ttcttgtcat cccctctgaa gccccttagc agcagcggat atgcctccca
     8761 taaggagaaa gaaatggtgg ccggcctgtt ctgcaaactt gccgctctcg ttagacacag
     8821 aatttccctc tttggtagtg attctactac aatggtgagc tgtcttcaca tcttagctca
     8881 gacacttgac acaaggactg tcatgaagtc aggctcagag ctggtgaagg ctgggttacg
     8941 agcattcttt gaaaatgctg cagaagattt ggagaagact tcagaaaacc tgaaacttgg
     9001 gaagttcacc cattcccgaa cgcagattaa aggcgtttct cagaatatta actacactac
     9061 agtggctctg ctccccatcc tgacgtccat ctttgagcac gtcactcagc atcagtttgg
     9121 aatggatcta ctcttgggtg atgtgcagat ttcatgctac cacatactgt gcagcctcta
     9181 ctcccttggg acgggaaaga acatttatgt tgaaaggcaa cgccctgccc ttggagaatg
     9241 tctggcctcg ctggcagctg ccataccagt ggcattcctg gagcccaccc ttaatcgcta
     9301 caatccactc tcggtcttca acaccaaaac ccccagggag aggtctattc tggggatgcc
     9361 agacacggta gaagacatgt gtcctgacat cccccagctg gaaggcctga tgaaggaaat
     9421 caacgacctg gccgagtcag gggcccggta cacagagatg ccccatgtca tcgaggtgat
     9481 cttacccatg ctctgcaact acttgtccta ctggtgggag cggggtcctg agaacctgcc
     9541 ccccagcaca gggccatgct gcaccaaggt cacctctgaa cacctcagtc tcatcctggg
     9601 caacattctg aaaatcatca acaacaacct gggcatcgat gaggcctcct ggatgaagcg
     9661 cattgcagtg tatgcacagc ccatcatcag caaagccagg cccgacctgc tgagaagcca
     9721 cttcatccca actctggaga agctgaagaa aaaggctgtc aagacggtgc aggaggagga
     9781 gcagttgaaa gccgatggca aaggggacac ccaggaggca gaactcctca tcctggacga
     9841 gttcgcggtc ctctgcagag atctctatgc cttctacccc atgctgatcc gctacgtgga
     9901 caacaacaga tctaactggc tgaaaagtcc tgatgctgat tctgaccagc tcttccgcat
     9961 ggtggcagaa gtcttcattc tgtggtgtaa atctcataac ttcaagagag aagagcaaaa
    10021 ttttgtgatt cagaatgaaa ttaataattt ggcattttta actggagaca gcaaaagcaa
    10081 gatgtcaaaa gccatgcaag taaagtctgg aggacaagac caggagcgga agaagacaaa
    10141 gcggcgggga gacttgtatt ccatccagac ctccctcatc gtggctgcac tcaagaaaat
    10201 gctgcccatt ggtttgaata tgtgtactcc aggcgaccag gagctgatct ccctcgcaaa
    10261 atcgcgatac agccataggg acacagatga agaggtcaga gaacatctgc ggaacaactt
    10321 gcacttgcag gaaaagtctg atgacccagc tgtaaaatgg caactgaacc tctacaagga
    10381 tgttctgaag agtgaagaac ctttcaatcc ggaaaagaca gtggagcgtg tgcagagaat
    10441 ttcagcagct gtcttccacc tggaacaggt ggaacagcct ttgaggtcca agaaggccgt
    10501 ctggcacaaa ctgttatcaa agcaacggaa acgggcagtg gtggcctgtt tcaggatggc
    10561 ccctctctac aacctgccca ggcaccgctc tattaacctc ttcctccatg gctatcagag
    10621 attttggata gaaacagagg agtattcctt tgaagagaaa ctagtacagg atttggctaa
    10681 atctccaaag gtggaagagg aggaggagga agagacagaa aaacaacctg acccactaca
    10741 tcagatcatt ctctatttta gccgcaacgc tctcacggag aggagcaaat tggaagacga
    10801 ccctttgtac acctcctatt ccagcatgat ggccaagagt tgtcaaagtg gtgaggatga
    10861 agaagaagat gaagacaagg aaaaaacatt cgaagagaaa gagatggaga agcaaaaaac
    10921 cctctatcag caagctcggc tgcatgagcg tggtgctgca gagatggtcc ttcagatgat
    10981 aagcgctagc aaaggtgaga tgagccccat ggtggttgag acgctgaagc tggggatcgc
    11041 cattctgaac ggaggcaatg ctggtgtgca acagaaaatg ctagattacc taaaggagaa
    11101 aaaggatgct ggattctttc aaagcctttc tggtcttatg cagtcttgca gtgtccttga
    11161 tttgaatgca tttgagaggc agaataaagc tgaaggcctg gggatggtga ctgaagaagg
    11221 aacactcatt gttcgggaac gtggtgaaaa agtactccag aatgacgagt tcacgcgtga
    11281 tctctttaga ttcctacagt tactttgtga gggacataac agtgactttc agaacttcct
    11341 gcggactcag atgggcaaca ccaccaccgt gaatgtcatc atcagcactg tggactacct
    11401 tctgcgtctg caggaatcaa tcagtgattt ctactggtat tattcaggga aggacatcat
    11461 tgatgaatct ggacagcaca atttttccaa agctctggca gtcaccaagc agattttcaa
    11521 ttctcttaca gaatacatcc agggcccttg cattggtaat caacagagcc tggctcacag
    11581 caggctgtgg gacgcagtgg ttggcttcct ccatgtcttt gctaatatgc agatgaaact
    11641 ctctcaggat tccagtcaga tcgagctgct gaaggaactc ttggatctcc ttcaggacat
    11701 ggtggtgatg cttctgtccc tcctggaagg gaatgtggta aatggcacca ttggcaagca
    11761 gatggttgac acactggtag aatcatctac caatgtagaa atgatcttga aattctttga
    11821 catgttcttg aaacttaaag acttaaccag ctcagacacc ttcaaagaat atgacccaga
    11881 tggtaaagga attatctcca aaaaagaatt ccagaaggcc atggaagggc aaaaacagta
    11941 cacgcagtca gagattgact ttctcctgtc gtgtgcagaa gctgatgaga atgacatgtt
    12001 taattacgtt gattttgtag accggttcca tgagccagcc aaggacatag ggtttaatgt
    12061 ggctgtgtta ttgacaaatc tttctgaaca catgccaaac gattcccgcc tgaagtgtct
    12121 gttggaccca gcagaaagtg tgctaaatta cttcgaaccc tacctaggac gcatcgagat
    12181 catgggtggg gccaagaaga ttgagcgtgt ttattttgag atcagtgaat ccagtcgcac
    12241 tcagtgggag aagccccagg tgaaggaatc taagcgacag ttcatttttg atgttgtcaa
    12301 tgaaggtggg gagcaggaaa agatggagct gtttgtgaac ttctgtgagg acaccatctt
    12361 tgaaatgcag ttagcatctc agatctctga atccgattca gctgacaggc cagaagagga
    12421 ggaagaagat gaagattctt cttacgtgtt agaaattgcg ggtgaagagg aagaagacgg
    12481 gtctcttgag ccggcctctg catttgctat ggcctgtgcc tctgtgaaga ggaatgtcac
    12541 cgacttcctg aagagagcaa ccctgaagaa cctcaggaag cagtacagga acgtgaaaaa
    12601 gatgactgcg aaggagctgg tgaaggtgct cttctccttt ttctggatgc tgttcgtggg
    12661 gctattccag ttgctcttca ccatcctggg aggaatcttt cagatcctct ggagcacagt
    12721 gtttggaggg ggcctggtag aaggggcaaa gaacatcaga gtgaccaaga tcctgggtga
    12781 catgcctgac ccaacccaat ttggtatcca tgatgacact atggaggctg agagggcaga
    12841 ggtgatggag ccaggtatca ccactgaact agtacacttc ataaaggggg agaagggaga
    12901 tacagatatc atgtcagacc tctttggact ccacccaaag aaagagggca gcttaaagca
    12961 tgggcctgaa gtgggtttgg gtgacctctc agaaattatt ggcaaggatg aaccccctac
    13021 attagagagt actgtacaga agaagaggaa agctcaggca gcagaaatga aagcagcaaa
    13081 tgaagcagaa ggaaaagtag aatccgagaa ggcagacatg gaagatggag agaaggaaga
    13141 caaagacaaa gaagaggagc aagctgagta cctgtggaca gaagtgacaa aaaagaagaa
    13201 gcggcggtgt ggtcagaagg ttgagaagcc ggaagctttc acagccaatt tctttaaagg
    13261 gctggaaatc tatcagacca agttactgca ttacctggcc aggaatttct acaacctgag
    13321 gttccttgct ctgtttgtag ccttcgctat caacttcatc ctgctttttt ataaggtcac
    13381 tgaagaacct ttagaagaag agacagagga tgttgcaaac ctatggaatt cctttaatga
    13441 cgaggaagag gaagaagcga tggtattctt tgtccttcag gagagcaccg ggtatatggc
    13501 accaaccctg cgtgccctgg ccatcatcca taccatcatc tctctagtct gtgtggtggg
    13561 ctactactgc ctgaaggtgc ctttggtggt tttcaaaagg gaaaaagaaa tcgccaggaa
    13621 gctggagttt gatggcctat atatcaccga acagccatct gaagatgaca tcaaggggca
    13681 gtgggaccgc ttggtgatca acacaccatc ttttcctaat aactactggg acaagtttgt
    13741 aaagagaaag gtgatcaaca agtatggaga tctctacgga gcagaacgca ttgctgaact
    13801 tctgggtttg gacaaaaatg ctcttgactt tagcccagta gaagagacca aagcagaagc
    13861 ggcttctctg gtgtcatggc taagttccat agacatgaag taccatatct ggaagcttgg
    13921 agttgttttt actgacaact cctttctcta ccttgcctgg tatacaacca tgtcagtcct
    13981 gggccactac aataacttct tctttgctgc tcacctattg gacatcgcaa tgggcttcaa
    14041 gacactgagg accattctgt catctgtaac tcacaatggc aaacagttgg ttctgactgt
    14101 cggtctcctg gccgtggtgg tttatctcta tactgtggtg gctttcaact tcttccgcaa
    14161 gttctacaac aaaagcgaag acgatgacga gcccgatatg aagtgcgacg acatgatgac
    14221 gtgttacctt ttccacatgt acgtgggagt gagagcagga ggtggcattg gtgatgaaat
    14281 tgaagaccct gctggtgatc cttatgaaat gtatcgcatt gtctttgaca ttaccttttt
    14341 cttcttcgtc attgtcatct tgctggccat cattcaaggt cttattattg atgctttcgg
    14401 agagctaaga gaccagcagg aacaagtacg agaagatatg gagactaaat gtttcatctg
    14461 tgggattggc aatgactact ttgacacaac ccctcatggt tttgaaacac atacattaca
    14521 agagcacaac ttagccaact acttgttctt tctgatgtat ttgattaata aagatgaaac
    14581 agagcacacg ggtcaggaat cttatgtctg gaagatgtac caagaaaggt gttgggattt
    14641 cttcccagcc ggtgactgct ttcgtaaaca atatgaagat cagcttggat aaatctgaat
    14701 caaagaagcg cgacaattct ggacagtcaa cttcccatga aataaagtcc cctttttaca
    14761 gttctgcaac atatctgaaa tgtgacattt tctaaatgcc tcccttaaaa aaaaaactgc
    14821 tgaaaatctg tgctattttg aaattgattt ggctttttgt gcctaatgga catacactgt
    14881 gggagagaac ctgtcaaaat gtcgaagaag gaaggcgaag aatcaagtaa tctctaggca
    14941 aatgccttca agttttccag ttctgaggta actagttcag tttgttggga tggaagcatg
    15001 aaggaaaggg ctagagaagt atgaaatctc gaatgtgtaa tacctgaaaa tttaaacact
    15061 tgaatgtcat catggtatcc aacttgtgac tcatagggtc tgaactcact ccaaaagata
    15121 ataactgcag tctaattttt cccatggtac ttgctagtga ctgtatccag aaaagcttta
    15181 agcagttaaa gaaacagaaa aaaaccgaca ctttgtcgac actgaaatat cgattaagtg
    15241 ccttaaaacc tctttagaca tagctatgca agttttttat gtttgtgttc cagaaggaca
    15301 gttccattca ttagttgtga tcttccgtct tactttatga aactgcactt gaaggttatt
    15361 catacaagtt tttttagtaa cagctgtcag tcaactgctg ttattagaag aaaagtactg
    15421 tactgaaaat tcagaaaaaa aatctcaacc ttatgccaaa atggagtaat gctttatggt
    15481 cccttgtaag tagtggagct gctctgttta ggtgaatctc ctcaaataca atgaagtgcc
    15541 cactgcaata aagtaatacg taccaata
//
LOCUS       NM_001037               1666 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens sodium voltage-gated channel beta subunit 1 (SCN1B),
            transcript variant a, mRNA.
ACCESSION   NM_001037
VERSION     NM_001037.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1666)
  AUTHORS   Li Y, Yuan T, Huang B, Zhou F, Peng C, Li X, Qiu Y, Yang B, Zhao Y,
            Huang Z and Jiang D.
  TITLE     Structure of human NaV1.6 channel reveals Na+ selectivity and pore
            blockade by 4,9-anhydro-tetrodotoxin
  JOURNAL   Nat Commun 14 (1), 1030 (2023)
   PUBMED   36823201
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1666)
  AUTHORS   Fan X, Huang J, Jin X and Yan N.
  TITLE     Cryo-EM structure of human voltage-gated sodium channel Nav1.6
  JOURNAL   Proc Natl Acad Sci U S A 120 (5), e2220578120 (2023)
   PUBMED   36696443
REFERENCE   3  (bases 1 to 1666)
  AUTHORS   Alghamdi MA, Al-Eitan LN, Asiri A, Rababa'h DM, Alqahtani SA,
            Aldarami MS, Alsaeedi MA, Almuidh RS, Alzahrani AA, Sakah AH, El
            Nashar EM, Otaif MY and Abdel Ghaffar NF.
  TITLE     Association of sodium voltage-gated channel genes polymorphisms with
            epilepsy risk and prognosis in the Saudi population
  JOURNAL   Ann Med 54 (1), 1938-1951 (2022)
   PUBMED   35801810
  REMARK    GeneRIF: Association of sodium voltage-gated channel genes
            polymorphisms with epilepsy risk and prognosis in the Saudi
            population.
REFERENCE   4  (bases 1 to 1666)
  AUTHORS   Ramos-Mondragon R, Edokobi N, Hodges SL, Wang S, Bouza AA, Canugovi
            C, Scheuing C, Juratli L, Abel WR, Noujaim SF, Madamanchi NR, Runge
            MS, Lopez-Santiago LF and Isom LL.
  TITLE     Neonatal Scn1b-null mice have sinoatrial node dysfunction, altered
            atrial structure, and atrial fibrillation
  JOURNAL   JCI Insight 7 (10), e152050 (2022)
   PUBMED   35603785
  REMARK    GeneRIF: Neonatal Scn1b-null mice have sinoatrial node dysfunction,
            altered atrial structure, and atrial fibrillation. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 1666)
  AUTHORS   Qin N, D'Andrea MR, Lubin ML, Shafaee N, Codd EE and Correa AM.
  TITLE     Molecular cloning and functional expression of the human sodium
            channel beta1B subunit, a novel splicing variant of the beta1
            subunit
  JOURNAL   Eur J Biochem 270 (23), 4762-4770 (2003)
   PUBMED   14622265
  REMARK    GeneRIF: identification and characterization of a novel splicing
            variant; functional studies in oocytes demonstrate that the beta1B
            subunit increases the ionic current when coexpressed with the
            tetrodotoxin sensitive channel, NaV1.2
REFERENCE   6  (bases 1 to 1666)
  AUTHORS   Makita N, Sloan-Brown K, Weghuis DO, Ropers HH and George AL Jr.
  TITLE     Genomic organization and chromosomal assignment of the human
            voltage-gated Na+ channel beta 1 subunit gene (SCN1B)
  JOURNAL   Genomics 23 (3), 628-634 (1994)
   PUBMED   7851891
REFERENCE   7  (bases 1 to 1666)
  AUTHORS   Makita N, Bennett PB Jr and George AL Jr.
  TITLE     Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult
            human skeletal muscle, heart, and brain is encoded by a single gene
  JOURNAL   J Biol Chem 269 (10), 7571-7578 (1994)
   PUBMED   8125980
REFERENCE   8  (bases 1 to 1666)
  AUTHORS   McClatchey AI, Cannon SC, Slaugenhaupt SA and Gusella JF.
  TITLE     The cloning and expression of a sodium channel beta 1-subunit cDNA
            from human brain
  JOURNAL   Hum Mol Genet 2 (6), 745-749 (1993)
   PUBMED   8394762
REFERENCE   9  (bases 1 to 1666)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301690
REFERENCE   10  (bases 1 to 1666)
  AUTHORS   Hartshorne,R.P. and Catterall,W.A.
  TITLE     The sodium channel from rat brain. Purification and subunit
            composition
  JOURNAL   J Biol Chem 259 (3), 1667-1675 (1984)
   PUBMED   6319405
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.62069.1,
            SRR3476690.943038.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000262631.11/ ENSP00000262631.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020907.6 and BC067122.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001037.4.
            Summary: Voltage-gated sodium channels are heteromeric proteins
            that function in the generation and propagation of action
            potentials in muscle and neuronal cells. They are composed of one
            alpha and two beta subunits, where the alpha subunit provides
            channel activity and the beta-1 subunit modulates the kinetics of
            channel inactivation. This gene encodes a sodium channel beta-1
            subunit. Mutations in this gene result in generalized epilepsy with
            febrile seizures plus, Brugada syndrome 5, and defects in cardiac
            conduction. Multiple transcript variants encoding different
            isoforms have been found for this gene.[provided by RefSeq, Oct
            2009].
            Transcript Variant: This variant (a) represents the longer
            transcript but encodes the shorter isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1666
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..1666
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /note="sodium voltage-gated channel beta subunit 1"
                     /db_xref="GeneID:6324"
                     /db_xref="HGNC:HGNC:10586"
                     /db_xref="MIM:600235"
     misc_feature    268..270
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /note="upstream in-frame stop codon"
     CDS             352..1008
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /note="isoform a precursor is encoded by transcript variant
                     a; sodium channel subunit beta-1; sodium channel,
                     voltage-gated, type I, beta; sodium channel, voltage gated,
                     type I beta subunit"
                     /codon_start=1
                     /product="sodium channel subunit beta-1 isoform a
                     precursor"
                     /protein_id="NP_001028.1"
                     /db_xref="CCDS:CCDS12441.1"
                     /db_xref="GeneID:6324"
                     /db_xref="HGNC:HGNC:10586"
                     /db_xref="MIM:600235"
                     /translation="MGRLLALVVGAALVSSACGGCVEVDSETEAVYGMTFKILCISCKR
                     RSETNAETFTEWTFRQKGTEEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDL
                     SIFITNVTYNHSGDYECHVYRLLFFENYEHNTSVVKKIHIEVVDKANRDMASIVSEIMM
                     YVLIVVLTIWLVAEMIYCYKKIAAATETAAQENASEYLAITSESKENCTGVQVAE"
     sig_peptide     352..405
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q07699.1)"
     mat_peptide     406..1005
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /product="Sodium channel subunit beta-1.
                     /id=PRO_0000014926"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07699.1)"
     misc_feature    628..630
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30765606,
                     ECO:0000269|PubMed:36696443, ECO:0007744|PDB:6J8G,
                     ECO:0007744|PDB:6J8H, ECO:0007744|PDB:6J8I,
                     ECO:0007744|PDB:6J8J, ECO:0007744|PDB:8FHD; propagated from
                     UniProtKB/Swiss-Prot (Q07699.1); glycosylation site"
     misc_feature    679..681
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30190309,
                     ECO:0000269|PubMed:30765606, ECO:0000269|PubMed:36696443,
                     ECO:0007744|PDB:6AGF, ECO:0007744|PDB:6J8G,
                     ECO:0007744|PDB:6J8H, ECO:0007744|PDB:6J8I,
                     ECO:0007744|PDB:6J8J, ECO:0007744|PDB:8FHD; propagated from
                     UniProtKB/Swiss-Prot (Q07699.1); glycosylation site"
     misc_feature    691..693
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30190309,
                     ECO:0000269|PubMed:30765606, ECO:0000269|PubMed:36696443,
                     ECO:0007744|PDB:6AGF, ECO:0007744|PDB:6J8G,
                     ECO:0007744|PDB:6J8H, ECO:0007744|PDB:6J8I,
                     ECO:0007744|PDB:6J8J, ECO:0007744|PDB:8FHD; propagated from
                     UniProtKB/Swiss-Prot (Q07699.1); glycosylation site"
     misc_feature    754..756
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30765606,
                     ECO:0000269|PubMed:36696443, ECO:0000269|PubMed:36823201,
                     ECO:0007744|PDB:6J8G, ECO:0007744|PDB:6J8H,
                     ECO:0007744|PDB:6J8I, ECO:0007744|PDB:6J8J,
                     ECO:0007744|PDB:8FHD, ECO:0007744|PDB:8GZ1,
                     ECO:0007744|PDB:8GZ2; propagated from UniProtKB/Swiss-Prot
                     (Q07699.1); glycosylation site"
     misc_feature    832..897
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07699.1);
                     transmembrane region"
     regulatory      1646..1651
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /note="hexamer: AATAAA"
     polyA_site      1666
                     /gene="SCN1B"
                     /gene_synonym="ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1"
                     /note="major polyA site"
ORIGIN
        1 agtgcgcagg agaccgcggt ccgcgcccga gcgcgcccga gccggagcgg gaccggggtc
       61 ggtgcaccta gcggatgtgc ccggctgcgc gcgccagcgc agcagcccga gcagcggccg
      121 ccgcccgcgc ggcggggatg cccggacgcc gggccccggg gctgggcccc cggcggtaac
      181 cggagcgggg gggccgcgcc ccccctcctc ccccctcgcc ggtcccagag ccgcagctgc
      241 tgcgcccgcg cgctcccggg gacattctaa ccgccgccag gtcccgccgc ctctcgcccc
      301 gctattaata ccggcggccc gggagggggg cgcagcacgc gccgcgcagc catggggagg
      361 ctgctggcct tagtggtcgg cgcggcactg gtgtcctcag cctgcggggg ctgcgtggag
      421 gtggactcgg agaccgaggc cgtgtatggg atgaccttca aaattctttg catctcctgc
      481 aagcgccgca gcgagaccaa cgctgagacc ttcaccgagt ggaccttccg ccagaagggc
      541 actgaggagt ttgtcaagat cctgcgctat gagaatgagg tgttgcagct ggaggaggat
      601 gagcgcttcg agggccgcgt ggtgtggaat ggcagccggg gcaccaaaga cctgcaggat
      661 ctgtctatct tcatcaccaa tgtcacctac aaccactcgg gcgactacga gtgccacgtc
      721 taccgcctgc tcttcttcga aaactacgag cacaacacca gcgtcgtcaa gaagatccac
      781 attgaggtag tggacaaagc caacagagac atggcatcca tcgtgtctga gatcatgatg
      841 tatgtgctca ttgtggtgtt gaccatatgg ctcgtggcag agatgattta ctgctacaag
      901 aagatcgctg ccgccacgga gactgctgca caggagaatg cctcggaata cctggccatc
      961 acctctgaaa gcaaagagaa ctgcacgggc gtccaggtgg ccgaatagcc ctggccctgg
     1021 gccccgcctc aaggaagagc cagccgtaat ggggactctc caggcaccgc ctgcccccag
     1081 cgtgggggtg gccactcctg ggccccagaa agcctcagag tcctgccgac ggagccactg
     1141 gggtgggagg gggcaggggg cttggctcgc acccccactt tcgcctcctc cagctcctgc
     1201 cccgccggcc gcgcaccgcc atgcatgatg ggtaaagcaa tactgccgct gcccccaccc
     1261 tgcttctgct gcctgtttgg ggaggggggc ggtgaggtgg gggcagcggc cccgcacccc
     1321 tcctccttgc tgatttgcac acattggccg cttcagacac gcacttctgg ggccagcccc
     1381 tccccgcctc ctccctgcct ggcggcaggg gtcgcgatga tgggctggag cagtttgggg
     1441 cagggggttc tgggacccac tccgactccc cctccccggc atcatttccc ctcccgcttc
     1501 ctccggctgg acctggggtc ccccctccct gtaatgcact cctgccccgg cccaacctcg
     1561 ccctctctca ccagccttga actgtggcca cctagaaagg ggcccattca gcctcgtctc
     1621 tttacagaag tagttttgtt catgaaataa agactcttgg acttga
//
LOCUS       NM_001037131           10889 bp    mRNA    linear   PRI 24-MAR-2023
DEFINITION  Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain
            1 (AGAP1), transcript variant 1, mRNA.
ACCESSION   NM_001037131
VERSION     NM_001037131.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10889)
  AUTHORS   Cheng N, Zhang H, Zhang S, Ma X and Meng G.
  TITLE     Crystal structure of the GTP-binding protein-like domain of AGAP1
  JOURNAL   Acta Crystallogr F Struct Biol Commun 77 (Pt 4), 105-112 (2021)
   PUBMED   33830075
  REMARK    GeneRIF: Crystal structure of the GTP-binding protein-like domain of
            AGAP1.
REFERENCE   2  (bases 1 to 10889)
  AUTHORS   Lv Q, Wang G, Zhang Y, Shen A, Tang J, Sun Y, Ma C and Wang P.
  TITLE     CircAGAP1 promotes tumor progression by sponging miR-15-5p in clear
            cell renal cell carcinoma
  JOURNAL   J Exp Clin Cancer Res 40 (1), 76 (2021)
   PUBMED   33618745
  REMARK    GeneRIF: CircAGAP1 promotes tumor progression by sponging miR-15-5p
            in clear cell renal cell carcinoma. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 10889)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 10889)
  AUTHORS   Tsutsumi K, Nakamura Y, Kitagawa Y, Suzuki Y, Shibagaki Y, Hattori S
            and Ohta Y.
  TITLE     AGAP1 regulates subcellular localization of FilGAP and control
            cancer cell invasion
  JOURNAL   Biochem Biophys Res Commun 522 (3), 676-683 (2020)
   PUBMED   31785816
  REMARK    GeneRIF: AGAP1 regulates subcellular localization of FilGAP and
            control cancer cell invasion.
REFERENCE   5  (bases 1 to 10889)
  AUTHORS   Nie Z, Fei J, Premont RT and Randazzo PA.
  TITLE     The Arf GAPs AGAP1 and AGAP2 distinguish between the adaptor protein
            complexes AP-1 and AP-3
  JOURNAL   J Cell Sci 118 (Pt 15), 3555-3566 (2005)
   PUBMED   16079295
  REMARK    GeneRIF: The AGAP1 has been found to associate with the adaptor
            protein complex AP-3 and regulate the function of AP-3 endosomes.
REFERENCE   6  (bases 1 to 10889)
  AUTHORS   Wassink TH, Piven J, Vieland VJ, Jenkins L, Frantz R, Bartlett CW,
            Goedken R, Childress D, Spence MA, Smith M and Sheffield VC.
  TITLE     Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism
            susceptibility gene
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 136B (1), 36-44 (2005)
   PUBMED   15892143
  REMARK    GeneRIF: CENTG2 is an intriguing candidate gene that merits further
            scrutiny for its role in autism. GeneRIF: Observational study of
            gene-disease association. (HuGE Navigator)
REFERENCE   7  (bases 1 to 10889)
  AUTHORS   Meurer S, Pioch S, Wagner K, Muller-Esterl W and Gross S.
  TITLE     AGAP1, a novel binding partner of nitric oxide-sensitive guanylyl
            cyclase
  JOURNAL   J Biol Chem 279 (47), 49346-49354 (2004)
   PUBMED   15381706
  REMARK    GeneRIF: AGAP1 is a novel binding partner of nitric oxide-sensitive
            guanylyl cyclase
REFERENCE   8  (bases 1 to 10889)
  AUTHORS   Nie Z, Boehm M, Boja ES, Vass WC, Bonifacino JS, Fales HM and
            Randazzo PA.
  TITLE     Specific regulation of the adaptor protein complex AP-3 by the Arf
            GAP AGAP1
  JOURNAL   Dev Cell 5 (3), 513-521 (2003)
   PUBMED   12967569
REFERENCE   9  (bases 1 to 10889)
  AUTHORS   Xia C, Ma W, Stafford LJ, Liu C, Gong L, Martin JF and Liu M.
  TITLE     GGAPs, a new family of bifunctional GTP-binding and
            GTPase-activating proteins
  JOURNAL   Mol Cell Biol 23 (7), 2476-2488 (2003)
   PUBMED   12640130
REFERENCE   10  (bases 1 to 10889)
  AUTHORS   Nie Z, Stanley KT, Stauffer S, Jacques KM, Hirsch DS, Takei J and
            Randazzo PA.
  TITLE     AGAP1, an endosome-associated, phosphoinositide-dependent
            ADP-ribosylation factor GTPase-activating protein that affects actin
            cytoskeleton
  JOURNAL   J Biol Chem 277 (50), 48965-48975 (2002)
   PUBMED   12388557
  REMARK    GeneRIF: overexpression inhibited formation of platelet-derived
            growth factor-induced ruffles and also induced loss of actin stress
            fibers
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: BC140856.1 [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304032.13/ ENSP00000307634.7
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012305.7, BC060814.1,
            BC167153.1, BC140856.1, AY033765.1, AK001722.1, AC019047.7 and
            CA446024.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001037131.2.
            Summary: This gene encodes a member of an ADP-ribosylation factor
            GTPase-activating protein family involved in membrane trafficking
            and cytoskeleton dynamics. This gene functions as a direct
            regulator of the adaptor-related protein complex 3 on endosomes.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Oct 2011].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..10889
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.2"
     gene            1..10889
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /note="ArfGAP with GTPase domain, ankyrin repeat and PH
                     domain 1"
                     /db_xref="GeneID:116987"
                     /db_xref="HGNC:HGNC:16922"
                     /db_xref="MIM:608651"
     misc_feature    462..464
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /note="upstream in-frame stop codon"
     CDS             645..3218
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /EC_number="3.6.5.2"
                     /note="isoform 1 is encoded by transcript variant 1; Arf
                     GAP with GTP-binding protein-like, ANK repeat and PH
                     domains 1; centaurin, gamma 2; GTP-binding and
                     GTPase-activating protein 1; arf-GAP with GTPase, ANK
                     repeat and PH domain-containing protein 1"
                     /codon_start=1
                     /product="arf-GAP with GTPase, ANK repeat and PH
                     domain-containing protein 1 isoform 1"
                     /protein_id="NP_001032208.1"
                     /db_xref="CCDS:CCDS33408.1"
                     /db_xref="GeneID:116987"
                     /db_xref="HGNC:HGNC:16922"
                     /db_xref="MIM:608651"
                     /translation="MNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERVEEPVLQNQ
                     IREHVIAIEDAFVNSQEWTLSRSVPELKVGIVGNLASGKSALVHRYLTGTYVQEESPEG
                     GRFKKEIVVDGQSYLLLIRDEGGPPEAQFAMWVDAVIFVFSLEDEISFQTVYHYYSRMA
                     NYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSNDLKRCTYYETCATYGLNVERVF
                     QDVAQKIVATRKKQQLSIGPCKSLPNSPSHSSVCSAQVSAVHISQTSNGGGSLSDYSSS
                     VPSTPSTSQKELRIDVPPTANTPTPVRKQSKRRSNLFTSRKGSDPDKEKKGLESRADSI
                     GSGRAIPIKQGMLLKRSGKSLNKEWKKKYVTLCDNGVLTYHPSLHDYMQNVHGKEIDLL
                     RTTVKVPGKRPPRATSACAPISSPKTNGLSKDMSSLHISPNSGNVTSASGSQMASGISL
                     VSFNSRPDGMHQRSYSVSSADQWSEATVIANSAISSDTGLGDSVCSSPSISSTTSPKLD
                     PPPSPHANRKKHRRKKSTSNFKADGLSGTAEEQEENFEFIIVSLTGQTWHFEATTYEER
                     DAWVQAIESQILASLQSCESSKNKSRLTSQSEAMALQSIRNMRGNSHCVDCETQNPNWA
                     SLNLGALMCIECSGIHRNLGTHLSRVRSLDLDDWPVELIKVMSSIGNELANSVWEESSQ
                     GRTKPSVDSTREEKERWIRAKYEQKLFLAPLPCTELSLGQHLLRATADEDLRTAILLLA
                     HGSRDEVNETCGEGDGRTALHLACRKGNVVLAQLLIWYGVDVTARDAHGNTALAYARQA
                     SSQECIDVLLQYGCPDERFVLMATPNLSRRNNNRNNSSGRVPTII"
     misc_feature    645..647
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9UPQ3.4); acetylation site"
     misc_feature    840..1472
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ3.4);
                     Region: Small GTPase-like"
     misc_feature    1443..1673
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1860..1991
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2130..2285
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2205..2207
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9UPQ3.4); phosphorylation site"
     misc_feature    2457..2459
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UPQ3.4); phosphorylation site"
     misc_feature    2631..2633
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BXK8; propagated from
                     UniProtKB/Swiss-Prot (Q9UPQ3.4); phosphorylation site"
     misc_feature    2946..3035
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ3.4);
                     Region: ANK 1"
     misc_feature    3045..3134
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPQ3.4);
                     Region: ANK 2"
     misc_feature    3150..3152
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UPQ3.4); phosphorylation site"
     regulatory      10732..10737
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /note="hexamer: ATTAAA"
     polyA_site      10751
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
     regulatory      10866..10871
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /note="hexamer: AATAAA"
     polyA_site      10889
                     /gene="AGAP1"
                     /gene_synonym="AGAP-1; CENTG2; cnt-g2; GGAP1"
                     /note="major polyA site"
ORIGIN
        1 ggagccctgc gtgccaggga gggggccggc cgggcaggcg gcgggcggcg ctcggagcgg
       61 gctccgcggc ttgcaaggcg cctgcgactc ggtcccaggt cggcgggcgg cgcacggcgg
      121 gctcgcgcgg gggccccggc gcgccgggcg gcgcagtacg cagcgcgcgg acccacgcca
      181 cggccaggag cccagagcag cgcggccaca ctgcccaggg gtcggccctc ggccccggcg
      241 ctcggagcgc ggcggctgcc tgggctttaa tggctgctcc gcggagcagc gcctagggct
      301 ggaaggcggc tgcggctcag gaagtcaccc gagcaagcct ccttcggggc cggccgcacc
      361 cgccgcggcg cgctccatgg gggcgcgctc cccccgggcg gcccgctgac ccgggacgcc
      421 ggggcccgct cgctcgccgg ccgcgcgtcc cggccatgaa ctgagcccgc gggccagccc
      481 cgcgcctgct ccgcccgcgc ctttcttctc gcgcctcctc cgcccgccgc cggcgggccc
      541 ggctccccgg gggctgcggc gccccgggct cggcggcccg cgggccccgg ggcgcggggc
      601 ggcggcggcg gggggcgcgc ggctccgggc gcggcgcctg caccatgaac taccagcagc
      661 agctggccaa ctcggctgcc atccgggccg agatccagcg cttcgagtcg gtccacccca
      721 acatctactc catctacgag ctgctggagc gcgtggagga gccggtgctg cagaaccaga
      781 tccgggagca cgtcatcgcc atcgaagatg ccttcgtgaa cagccaggaa tggacgctga
      841 gtcgatctgt cccggagctc aaagtgggaa ttgtgggtaa cttggccagc ggcaagtctg
      901 ccctggtgca ccggtacctg acgggcacat atgtccagga ggagtctccg gaaggtggca
      961 ggttcaagaa agagattgtc gttgatggac agagctatct gctgctgatc agagatgaag
     1021 ggggcccccc ggaggcgcag tttgccatgt gggtggacgc tgttatattt gtcttcagct
     1081 tggaggatga aataagtttc cagaccgttt accactacta cagtcgaatg gccaactatc
     1141 ggaacacgag cgagattcct ctggttctgg tgggaaccca ggatgccata agttctgcta
     1201 acccgagggt catcgatgac gccagggcga ggaagctctc caacgacctg aaacggtgca
     1261 cgtactacga gacgtgtgct acatacgggc tgaatgtgga gagggtcttc caggacgttg
     1321 cccagaagat tgttgccaca aggaagaagc agcagctgtc cataggaccc tgcaagtcgc
     1381 tacctaattc tcccagccat tcctccgtct gttccgcgca ggtgtctgcc gtgcacatca
     1441 gccagacaag taatggaggt gggagtttaa gcgactattc ctcctccgtt ccatcgactc
     1501 ccagcaccag ccagaaggaa cttcggatcg atgttcctcc cactgccaac acgcccacgc
     1561 ccgttcgcaa gcagtctaag cgccggtcca acctgttcac ctctcggaaa gggagcgacc
     1621 cagacaaaga gaagaaaggc ctggagagtc gtgcggacag cattgggagc ggccgagcca
     1681 tcccaattaa acagggcatg ctgttgaagc gaagtggcaa atcgttgaat aaagagtgga
     1741 aaaagaaata tgtcaccctg tgtgacaatg gcgtgctgac ctatcatccc agtttacatg
     1801 attacatgca gaatgttcat ggtaaggaga ttgaccttct gagaaccact gtgaaagtcc
     1861 cagggaagag gccaccccga gccacgtcag cctgcgcacc catctccagc cctaaaacca
     1921 atggcctatc caaggacatg agcagtttac acatctcacc caattcaggg aatgtcacta
     1981 gtgcatctgg gtctcagatg gcaagcggca tcagcctggt ctccttcaac agccgacccg
     2041 acggcatgca ccagcgctcc tactcagtct ccagtgccga ccagtggagt gaggctacgg
     2101 tcattgcaaa ctcggccatc agcagtgaca cagggctggg tgactccgta tgctccagcc
     2161 ccagtatctc cagcaccacc agccccaagc tcgacccgcc cccctcccct cacgccaaca
     2221 gaaagaagca ccgaaggaag aaaagcacta gcaacttcaa agccgacggc ctgtccggca
     2281 ctgctgaaga acaagaagaa aattttgagt ttatcattgt gtccctcact ggccaaacat
     2341 ggcactttga agccacgacg tatgaggagc gggacgcctg ggtccaagcc atcgagagcc
     2401 agatcctggc cagcctgcag tcgtgcgaga gcagcaagaa caagtcccgg ctgacgagcc
     2461 agagcgaggc catggccctg cagtcgatcc ggaacatgcg cgggaactcc cactgtgtgg
     2521 actgcgagac ccagaatccc aactgggcca gtttgaactt gggagccctc atgtgcatcg
     2581 aatgctcagg gatccaccgg aatcttggca cccacctttc ccgagtccga tctctggacc
     2641 tggatgactg gccagtcgag ctcatcaagg tgatgtcatc catcgggaac gagctagcca
     2701 acagcgtctg ggaagagagc agccaggggc ggacgaaacc atcggtagac tccacaaggg
     2761 aagagaagga acggtggatc cgtgccaagt acgagcagaa gctcttcctg gccccgctgc
     2821 cctgcacgga gctgtccctg ggccagcacc tgctgcgggc caccgccgac gaggacctgc
     2881 ggacggccat cctgctgctg gcacacggct cccgggacga ggtgaacgag acctgcgggg
     2941 agggagacgg ccgcacggcg ctgcatctgg cctgccgcaa ggggaatgtg gtcctggcgc
     3001 agctcctgat ctggtacgga gtggacgtca cggcccgaga tgcccacggg aacacagctc
     3061 tggcctacgc ccggcaggcc tccagccagg agtgcatcga cgtgctgctg cagtacggct
     3121 gccccgacga gcgcttcgtg ctcatggcca cccctaacct gtccaggaga aacaataacc
     3181 ggaacaacag cagtgggagg gtgcccacca tcatctgagg aacagccgtg cccgcctgct
     3241 cgccgcacct gggacgcggc agcctcgccg cattctcgct cagaagtcgc agcacgtgag
     3301 tcccgtcgca tcccctccct cttcctggtg gccacctccc tcccgcccac ccactctcac
     3361 cccaaacaaa atcacaaaac ctggacatcc ctcaaggggc gaagaggcgg ccgggagact
     3421 gcagaagtgg ctccttttca taaactcccc taaaccacac acaggagaga gcgacgggcc
     3481 tcggcccttt gatgatagca catggcgcag gacccttgtc ctggtggcac aagggatggg
     3541 gacgcgaggg ggaggggagg cgaggaacaa ggagaagggg caactttcct taactggcag
     3601 ttgagcacat agtacatttc ccctctacca aacggaacac ttggattcca tctcttctct
     3661 gaggagctcg acggcataaa tcagaagcaa gcacagagtt tgtcaggttt gaagccccta
     3721 tgatggtgtg tgtcaaatca gttgtagcta atctgtccag ggagaatact ggcttcatta
     3781 cacttgtaca gccgagttct tcccgcatta ctgctgttta atagaacgtg attagtcatc
     3841 gccgagaaga aagcatatta gccgaggagg tagtcacgcg gcacgcgccg gtgattgcca
     3901 cgatgtgatt gcaatactct tagaagcacc atattatccc agacatgttc tttcaagccc
     3961 ttggagccct ctctaaattc actgtcatca tttagtatct gtttaatttt tcagtccaaa
     4021 gagaggaaat cagtcgctga gtattatttg actccggtct ccttggtgca aaaacaaaat
     4081 gggaaaaata aataagaata actcagaaac tcaaaaggaa accacaaatt cagctaataa
     4141 tagcatttcg agtatatttc gtaaactaag gaaatacaca aaaggctgtt ttttccgact
     4201 gtaagagata tttgatgtcc ttttgccgag gtggatgtgt tagtctcagg ccctcctgga
     4261 ccacgttgcc caagtcacac aggcttctgt gttatgtatt tagataagat gtgtgaaaat
     4321 atatttgaat aaaagaagtt cataaatatg cattgatttt tgtacagaca aatggcacct
     4381 ctcttaattt ataaattgaa ctggatgtga actaataatg tgcaactagt tgagataaga
     4441 gggttacaga tcattgtaca tggaaaatat tcccagcagt aaacacttcc attaatgtga
     4501 tctacggctt ttgaaaagga gcatctcaga ataagatggt ggtacaattt gcttattaaa
     4561 attgagaaag aaaaaaaaag acacactgga gtatattaga aaggaaaaag aaggaatgtg
     4621 gtctctcatg attgaaagca tgatttagat cggatacggc ttttgctaac caaggaccaa
     4681 gggactctgg caagatgggg tggttttccg aatgccagac cgaggtgcct tacgaaggca
     4741 gctgccaatg gttctgtggc acagactggc tcctgagaac ccagacgacc ttgacctggc
     4801 agcccggccc tccacgctag tacctcgcct gattttccat cgttgcggta tccagccgct
     4861 tcagacgtcc gccgccttca gtggtggtag tcaaatgtag tcaaccaaac cacagcatcc
     4921 cttaggttaa aagcaaacgg ggcagctttg cctagagctc attgacagtg tgatgggggg
     4981 agaagggttg tcacaatgga agatgaggac actagactca tgtagcacag aaacatgaag
     5041 ccacacgcac cggcagcctc cggggtgttc ctcgctctct cgtatgttaa accttatatt
     5101 ttataagagt ttttcctctt atttcacttt ttaaaaaaaa ttaaagtagg tggggaaaaa
     5161 aataaagctt tacacagaat ttatatgtgg gtaagtgttt catggaaatt tctaatctta
     5221 acgaagctaa gtggagctca ctcgtatcca aaagtataac aggtgcagaa gccacaagtc
     5281 tgagaacctt gacgacagtt ccatcgtcct gccatttgat ttttcagtct gcgtttcatc
     5341 actgtgtagc tattgtaaat gtgaatagaa aaaaacaggt cattgcctat ttttgaagaa
     5401 cgcgttggtg ttcgagtcca ctagacacac tcgctccaca cagccttcac cgtagactct
     5461 gtagtggaca cagatatagc ataaatgaaa ttgttaaatt atttcattgt agttaattcc
     5521 cactatagga atgctttatc atagtgaagt ttcttttgag aagaaacgga actccttgag
     5581 gcttctcttt gggatgtata tgagcgtgta catattattc tatgtgttta taatataata
     5641 ttttcccaaa tgacttcttg tttcactttg ccttccacaa cctgaatgcc agattggttt
     5701 tttcccttcc tggcccccag cacaagctgc catgactccc cctcagaaaa cacagcccct
     5761 cctctaccat tctcagtgat gtccatctgc tccactccgc agccactttc tagggcccaa
     5821 gttttggtag cagaaggaaa ggcagttttt gagggtcttt cgaaaaaaag aagacggggc
     5881 agctttgccc agagctcgtt ggcagtctgt ttgtatttca gtgtctaacc agaagtcctt
     5941 tctttgcgga ccgcactctc gttcccactt tcaagctaat taccaccaag gctgggagag
     6001 gcaaggactg ggggcggagc taggaataac tcgtttgaga agggggtgga gttttcgttg
     6061 ttcatttcca tgttcagttc tgtgacgtga cgatgacaga tcaccactgc aggatccccc
     6121 tcacctttcc tgttcagaat taaaactctc ccttgatgag aaacagccag ctgagggagg
     6181 cccacgagcg gcctgtgtaa ccccatgggt gatctggaca catctgcacc cccgcgttca
     6241 gcttcgcgga gactgaactt ggcggggagt ggaggggtgt ggtgcagacc tggctgcagc
     6301 agaaacaccc cgcagggaca gtactctgtg attctgacct caggtgctgg gacgggcaga
     6361 tggtttcccc cgcccagcac cccagtcctg gtccctggtc cctctctctg tttcatccca
     6421 ggaaatgagc agctcgaggg tgagcaagtg acaagttcct gagtcactgg ccccaaaacc
     6481 aggtgcagtg tcctgtctcc caagtgtgtg cacaatgtat atatgcactg gaaaggaggg
     6541 agaaggcagc gggtcactcg ccaatcgcag ggttctcaga cacaggagag agcgggatct
     6601 taatgaattg catttcctgc agagcctcta gtgcacaggc cagttctcgg cagtggcttt
     6661 tcagcacaag ggccttgcat tgaagctccc tcttctgaga tttcacccag cctgatgagg
     6721 cctgcatggt tccggcctcg tcatccagtg tagataccag tcttcctatt tttgtgacat
     6781 ctgcacattt ggggtcattc cctatatctg cataggagct attgctaacc ttgttaggga
     6841 gaaacatggt ctaatgagaa agacagaccc ctaggctcag ctggccctgc catccttcca
     6901 gaggattcct ctgcaactct aggcaagcac ccagcttcct gggctctttt tcctcatctg
     6961 tgaaacttgc agggtgcagt gaggtttcaa accagtgtga taagtgttgg cctcacacct
     7021 ggcccagggg atgctgggag aacaggagca cttgttaata acagaaacac tgatgggacc
     7081 gaagccagtg cacacaccag gaaacctgcc cgtggctgac actgtcctcc agcctgcatt
     7141 ctggggaggc tgtgatgggc acgtttgcca accccccccc cccagtagag cccaggaccc
     7201 tcctctctca gcttgccagt gccctgccct ccacatggcg gggaacagca tcaatgaggt
     7261 ccttgctccc tgagagcctc tctggaacct gcccactttt ctcaacatgt atattctgct
     7321 ttgtagtctg aggttgattt tctagaggcg aggaaggggc tgagttctgc cctcgtgctg
     7381 ttcgctggtg ctgatcaggg ccaagacgac ccttccctct cccccacagc ctgttgaggt
     7441 gccgttgacg tggacagcgc ccctccctta agatgccccc ttgccgttgc catgagccgc
     7501 tgtgactcac gcgtgcactg ggccttgctt ggtgctcccc tcctcctcct gtctgagatc
     7561 ggagcttgct ggagagcacc ccaggtcgcc gtgcttggct gcaggcccgt ccctctctcc
     7621 ccatcctcgg gttcccagcg tgttttgtgc ttgaacttgg tggactcatc ttaccccaca
     7681 agagtggcct gctcaacctg cagcctccaa tgtgccgtag gcgctctagg tccccgtggc
     7741 gcccaggaca ccaactctcc ctccctgcac ttaggatgtt ctggaaatga gaggaaatcc
     7801 acattcctgc cccaggaggt gggaagcctg gcaacgatgt agcttcccct gagatgcggt
     7861 atgatcaggc ctcagcaact actcaggagg caaaggtgtt tggaaagcaa accccaaacc
     7921 tcccggcacg gcatgtgctc tgcttccgtc cctcaccgcc tgcacaaggt cgttgagact
     7981 tttctagaac tccccggggt tgtatttatg gccttcaagc aaacaaattg aaaagcagtc
     8041 aaggaggagt tcagatagaa aagtgctgga gatacacatc tttccttcaa aggaaatgta
     8101 atttatttcc aaccgctgcc tcagacgggg gtttcacatg ttgtgaagtc acatcttgaa
     8161 tgactgtcac cctcatcctt ccccaaaaag ctaaataagg gcctttggca tcaatgcgtg
     8221 cattctccac ctttccgcgg cttgcgcttg gatttctgag tggctttctt cagggagccc
     8281 ttgtggtcat gtgtctttaa tgctgctccc catgccccca ggccaggcca gcacgctcag
     8341 gtgatagcga gtggggccag gagacccccc tgccctgccc agtggacaga tctgccccag
     8401 ccctgctgtg gggacgggcc ctctatcatt taaccacata cattaggttg cttttcagca
     8461 aaatgtcagc tttcctccca ttatgcagga gagagaaggg gcgcaggtgt atctccttag
     8521 agtacacctt ggagctggat cactaagaaa cagtcctcag actggtcctt ccgacacagg
     8581 cagagagtga actggatcgc tggcccctgg gatgctgcgc tgtctgtgat tagagagaag
     8641 tggccagtgt cccgtctgtg attagacaga aacccctgtg gcagactcct cccctctcca
     8701 tgaagaaaga aatatttact tagatattac tgtttcaaaa cacaaacttt attcccctta
     8761 gagaagaaat actgccctta aatagactgt tgaaatatta atggcccccc catttaatca
     8821 gtgtgtctgc ggctttcttc gcgtcacatg tccgcattgg caggtgattc tggaaaggga
     8881 ttctgggaaa ccaacaagtc ttttttaaat ctttgagttg tatgagaaag tatttaagtt
     8941 caccagtgta gtaaacaccc accccagagc agcggtaagc aaacctaaat ctgaaaaccc
     9001 attcttactg tctttcacca tgagatgctg gttttggtgt aaaatgacag cacttggttt
     9061 ggggttttgc acctgttggg tagaactgtt cttgtctgag gtcctcaccc tctacagatg
     9121 ggcctcaggg cctggaggtg ggcagatggg gccagagtgg ccagcagaga cttgcatggg
     9181 ctctgaaagc cccagagctc aggcctaagg ctgctaggtg agaccagcag gcagctgtgg
     9241 catccgacct tgggacgccc aagctgggca gccgctccat gtgccccaaa caggatatcc
     9301 tcatgaatgt gaggagaggc tggctcaggg cttggttttc attttggcct ggcacagggt
     9361 acctgtaggg agcactcccc caacctgagg atggtgaaac catatgatag agactccttg
     9421 tcgaagtcca catcggactg atctagaatg ccccgtgggg ggattgcatg gcctttgcct
     9481 tgagatgcag gtgaaagaaa ggaaccaaac aaggcatgag tgtgttgggg aatcttccca
     9541 gtggagcaaa cccccttaac acaccagctg ttgggaacag ctgcccctaa atccaattaa
     9601 accctcatct ccctggtgct gaacagtcta cactggccca ggaagctaac gtctgagccg
     9661 cttggagagc tttggtaaac agaagacact ggaagcccac tcggtcagca gctgggcatg
     9721 aggatgtcag gggcctttgg acttgaggaa ggacagtcca ggtgcatgga atcctaatgg
     9781 gcctcatgca gacactggaa gcagcccagc cccctgccca ataccacagc cctggggtgt
     9841 cccctgacat tcctggaggt ccctgggcaa atgcatttcc tgcctgggtt ctcagggtag
     9901 gagaacagag aaggctccaa gggtgttggg agtgagccag gggctggtct ggggagtggg
     9961 tctcacgcac tgctcaggtt ggcacgaggg acctccccca tcccaaccca gccccaaggg
    10021 tcccagcagg gctctcagca tggctgtttt gagggtacac aggtggctgg agaggggtgg
    10081 ggcagttgca tggtgggtgg caaagtgtgc atttagaagc tgcttcgtgg cgttaagaac
    10141 ggggggagag ggaccagcac tgtaacgtta gaaataattc cttcttgcag acttgaaaag
    10201 catcagtttc cctcccacgg ctgggttttt gtgtctgaaa tacatctaat tctccagact
    10261 gcagcccctc tcagccccga gcacctgagc gctggggagg cccttattga gctcagcctg
    10321 gagaggggag ggtcgcacgg gtcccggggg caggtctcct gcactggctc ttcccttctg
    10381 ccagcttgga atttggttct catcttgcca caggggtgcg tttcctaaag ggcagccgga
    10441 gcagctcaaa ggtgacaact gagatgcatt tctaggcagg ggcagggaag gccaacccac
    10501 cttgcagcca gttttctgtt tctgtaaata gcagtgtata gagatggaag ggcagcgtgg
    10561 gtgtatccac agatgggttt aggttttttt tttggatgtt ttctattacc tcattcagca
    10621 actttatgtt tcacaatgac tcaatgatgc tttatttata ttgtttgtac tgtaattaaa
    10681 accattgaca gacatttcac tttgcttgtt atttcatatg atcttgtttt gattaaatat
    10741 gccagtttgt attttcctgc cttgggattt ttttgtgtcc gctgtacagt attctaaggg
    10801 aaaaagaaaa agaaagatgt gtaaagtaac agagagaggt ggctatggtg tagagacctc
    10861 tttctaataa agaaatgaaa atatgtcta
//
LOCUS       NM_001037132            6701 bp    mRNA    linear   PRI 17-APR-2023
DEFINITION  Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript
            variant 1, mRNA.
ACCESSION   NM_001037132
VERSION     NM_001037132.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6701)
  AUTHORS   Sannes AC, Christensen JO, Nielsen MB and Gjerstad J.
  TITLE     Stress-induced headache in the general working population is
            moderated by the NRCAM rs2300043 genotype
  JOURNAL   Scand J Pain 23 (2), 326-332 (2022)
   PUBMED   36181733
  REMARK    GeneRIF: Stress-induced headache in the general working population
            is moderated by the NRCAM rs2300043 genotype. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 6701)
  AUTHORS   Bai C and Chen DG.
  TITLE     NRCAM acts as a prognostic biomarker and promotes the tumor
            progression in gastric cancer via EMT pathway
  JOURNAL   Tissue Cell 77, 101859 (2022)
   PUBMED   35763884
  REMARK    GeneRIF: NRCAM acts as a prognostic biomarker and promotes the tumor
            progression in gastric cancer via EMT pathway.
REFERENCE   3  (bases 1 to 6701)
  AUTHORS   Huang FJ, Liu YL, Wang J, Zhou YY, Zhao SY and Qin GJ.
  TITLE     LncRNA RUNX1-IT1 affects the differentiation of Th1 cells by
            regulating NrCAM transcription in Graves' disease
  JOURNAL   Cell Cycle 21 (9), 921-933 (2022)
   PUBMED   35220890
  REMARK    GeneRIF: LncRNA RUNX1-IT1 affects the differentiation of Th1 cells
            by regulating NrCAM transcription in Graves' disease.
REFERENCE   4  (bases 1 to 6701)
  AUTHORS   Kurolap A, Kreuder F, Gonzaga-Jauregui C, Duvdevani MP, Harel T,
            Tammer L, Xin B, Bakhtiari S, Rice J, van Eyk CL, Gecz J, Mah JK,
            Atkinson D, Cope H, Sullivan JA, Douek AM, Colquhoun D, Henry J,
            Wlodkowic D, Parman Y, Candayan A, Kocasoy-Orhan E, Ilivitzki A,
            Soudry S, Leibu R, Glaser F, Sency V, Ast G, Shashi V, Fahey MC,
            Battaloglu E, Jordanova A, Meiner V, Innes AM, Wang H, Elpeleg O,
            Kruer MC, Kaslin J and Baris Feldman H.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     Bi-allelic variants in neuronal cell adhesion molecule cause a
            neurodevelopmental disorder characterized by developmental delay,
            hypotonia, neuropathy/spasticity
  JOURNAL   Am J Hum Genet 109 (3), 518-532 (2022)
   PUBMED   35108495
REFERENCE   5  (bases 1 to 6701)
  AUTHORS   Altevogt P, Ben-Ze'ev A, Gavert N, Schumacher U, Schafer H and
            Sebens S.
  TITLE     Recent insights into the role of L1CAM in cancer initiation and
            progression
  JOURNAL   Int J Cancer 147 (12), 3292-3296 (2020)
   PUBMED   32588424
  REMARK    GeneRIF: Recent insights into the role of L1CAM in cancer initiation
            and progression. Review article
REFERENCE   6  (bases 1 to 6701)
  AUTHORS   Wang B, Williams H, Du JS, Terrett J and Kenwrick S.
  TITLE     Alternative splicing of human NrCAM in neural and nonneural tissues
  JOURNAL   Mol Cell Neurosci 10 (5-6), 287-295 (1998)
   PUBMED   9604207
REFERENCE   7  (bases 1 to 6701)
  AUTHORS   Grumet M.
  TITLE     Nr-CAM: a cell adhesion molecule with ligand and receptor functions
  JOURNAL   Cell Tissue Res 290 (2), 423-428 (1997)
   PUBMED   9321706
  REMARK    Review article
REFERENCE   8  (bases 1 to 6701)
  AUTHORS   Sakurai T, Lustig M, Nativ M, Hemperly JJ, Schlessinger J, Peles E
            and Grumet M.
  TITLE     Induction of neurite outgrowth through contactin and Nr-CAM by
            extracellular regions of glial receptor tyrosine phosphatase beta
  JOURNAL   J Cell Biol 136 (4), 907-918 (1997)
   PUBMED   9049255
REFERENCE   9  (bases 1 to 6701)
  AUTHORS   Volkmer H, Leuschner R, Zacharias U and Rathjen FG.
  TITLE     Neurofascin induces neurites by heterophilic interactions with
            axonal NrCAM while NrCAM requires F11 on the axonal surface to
            extend neurites
  JOURNAL   J Cell Biol 135 (4), 1059-1069 (1996)
   PUBMED   8922386
REFERENCE   10  (bases 1 to 6701)
  AUTHORS   Lane RP, Chen XN, Yamakawa K, Vielmetter J, Korenberg JR and Dreyer
            WJ.
  TITLE     Characterization of a highly conserved human homolog to the chicken
            neural cell surface protein Bravo/Nr-CAM that maps to chromosome
            band 7q31
  JOURNAL   Genomics 35 (3), 456-465 (1996)
   PUBMED   8812479
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: AJ001057.1 [ECO:0000331]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379028.8/ ENSP00000368314.3
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005058.1, AC007567.2 and
            AC005683.2.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Jul 3, 2019 this sequence version replaced
            XM_005250373.3, NM_001037132.3.
            Summary: Cell adhesion molecules (CAMs) are members of the
            immunoglobulin superfamily. This gene encodes a neuronal cell
            adhesion molecule with multiple immunoglobulin-like C2-type domains
            and fibronectin type-III domains. This ankyrin-binding protein is
            involved in neuron-neuron adhesion and promotes directional
            signaling during axonal cone growth. This gene is also expressed in
            non-neural tissues and may play a general role in cell-cell
            communication via signaling from its intracellular domain to the
            actin cytoskeleton during directional cell migration. Allelic
            variants of this gene have been associated with autism and
            addiction vulnerability. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1), as well as variant 7, encodes
            isoform A.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6701
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.1"
     gene            1..6701
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="neuronal cell adhesion molecule"
                     /db_xref="GeneID:4897"
                     /db_xref="HGNC:HGNC:7994"
                     /db_xref="MIM:601581"
     misc_feature    502..504
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="upstream in-frame stop codon"
     CDS             526..4440
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="isoform A precursor is encoded by transcript variant
                     1; NgCAM-related cell adhesion molecule; neuronal surface
                     protein Bravo"
                     /codon_start=1
                     /product="neuronal cell adhesion molecule isoform A
                     precursor"
                     /protein_id="NP_001032209.1"
                     /db_xref="CCDS:CCDS47686.1"
                     /db_xref="GeneID:4897"
                     /db_xref="HGNC:HGNC:7994"
                     /db_xref="MIM:601581"
                     /translation="MQLKIMPKKKRLSAGRVPLILFLCQMISALEVPLDPKLLEDLVQP
                     PTITQQSPKDYIIDPRENIVIQCEAKGKPPPSFSWTRNGTHFDIDKDPLVTMKPGTGTL
                     IINIMSEGKAETYEGVYQCTARNERGAAVSNNIVVRPSRSPLWTKEKLEPITLQSGQSL
                     VLPCRPPIGLPPPIIFWMDNSFQRLPQSERVSQGLNGDLYFSNVLPEDTREDYICYARF
                     NHTQTIQQKQPISVKVISVDELNDTIAANLSDTEFYGAKSSRERPPTFLTPEGNASNKE
                     ELRGNVLSLECIAEGLPTPIIYWAKEDGMLPKNRTVYKNFEKTLQIIHVSEADSGNYQC
                     IAKNALGAIHHTISVRVKAAPYWITAPQNLVLSPGEDGTLICRANGNPKPRISWLTNGV
                     PIEIAPDDPSRKIDGDTIIFSNVQERSSAVYQCNASNEYGYLLANAFVNVLAEPPRILT
                     PANTLYQVIANRPALLDCAFFGSPLPTIEWFKGAKGSALHEDIYVLHENGTLEIPVAQK
                     DSTGTYTCVARNKLGMAKNEVHLEIKDPTWIVKQPEYAVVQRGSMVSFECKVKHDHTLS
                     LTVLWLKDNRELPSDERFTVDKDHLVVADVSDDDSGTYTCVANTTLDSVSASAVLSVVA
                     PTPTPAPVYDVPNPPFDLELTDQLDKSVQLSWTPGDDNNSPITKFIIEYEDAMHKPGLW
                     HHQTEVSGTQTTAQLKLSPYVNYSFRVMAVNSIGKSLPSEASEQYLTKASEPDKNPTAV
                     EGLGSEPDNLVITWKPLNGFESNGPGLQYKVSWRQKDGDDEWTSVVVANVSKYIVSGTP
                     TFVPYLIKVQALNDMGFAPEPAVVMGHSGEDLPMVAPGNVRVNVVNSTLAEVHWDPVPL
                     KSIRGHLQGYRIYYWKTQSSSKRNRRHIEKKILTFQGSKTHGMLPGLEPFSHYTLNVRV
                     VNGKGEGPASPDRVFNTPEGVPSAPSSLKIVNPTLDSLTLEWDPPSHPNGILTEYTLKY
                     QPINSTHELGPLVDLKIPANKTRWTLKNLNFSTRYKFYFYAQTSAGSGSQITEEAVTTV
                     DEAGILPPDVGAGKVQAVNPRISNLTAAAAETYANISWEYEGPEHVNFYVEYGVAGSKE
                     EWRKEIVNGSRSFFGLKGLMPGTAYKVRVGAVGDSGFVSSEDVFETGPAMASRQVDIAT
                     QGWFIGLMCAVALLILILLIVCFIRRNKGGKYPVKEKEDAHADPEIQPMKEDDGTFGEY
                     SDAEDHKPLKKGSRTPSDRTVKKEDSDDSLVDYGEGVNGQFNEDGSFIGQYSGKKEKEP
                     AEGNESSEAPSPVNAMNSFV"
     sig_peptide     526..597
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3)"
     mat_peptide     598..4437
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /product="Neuronal cell adhesion molecule.
                     /id=PRO_0000015057"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92823.3)"
     misc_feature    772..774
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92823.3); glycosylation site"
     misc_feature    1192..1194
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92823.3); glycosylation site"
     misc_feature    1258..1260
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92823.3); glycosylation site"
     misc_feature    1276..1278
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92823.3); glycosylation site"
     misc_feature    1351..1353
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3); glycosylation site"
     misc_feature    1465..1467
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92823.3); glycosylation site"
     misc_feature    1822..1824
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92823.3); glycosylation site"
     misc_feature    2044..2046
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92823.3); glycosylation site"
     misc_feature    2380..2382
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92823.3); glycosylation site"
     misc_feature    2671..2673
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92823.3); glycosylation site"
     misc_feature    2929..2931
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92823.3); glycosylation site"
     misc_feature    3097..3099
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:19139490; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3); glycosylation site"
     misc_feature    3502..3504
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92823.3); glycosylation site"
     misc_feature    3550..3552
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92823.3); glycosylation site"
     misc_feature    3580..3582
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92823.3); glycosylation site"
     misc_feature    3739..3741
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92823.3); glycosylation site"
     misc_feature    3772..3774
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92823.3); glycosylation site"
     misc_feature    3868..3870
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92823.3); glycosylation site"
     misc_feature    4027..4095
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92823.3);
                     transmembrane region"
     misc_feature    4120..4437
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92823.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4186..4188
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q810U4; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3); phosphorylation site"
     misc_feature    4198..4200
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q810U4; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3); phosphorylation site"
     misc_feature    4201..4203
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q810U4; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3); phosphorylation site"
     misc_feature    4276..4278
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q810U4; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3); phosphorylation site"
     misc_feature    4285..4287
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q810U4; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3); phosphorylation site"
     misc_feature    4336..4338
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P97686; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3); phosphorylation site"
     misc_feature    4393..4395
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q810U4; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3); phosphorylation site"
     misc_feature    4396..4398
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q810U4; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3); phosphorylation site"
     misc_feature    4408..4410
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q810U4; propagated from
                     UniProtKB/Swiss-Prot (Q92823.3); phosphorylation site"
     regulatory      6553..6558
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="hexamer: ATTAAA"
     polyA_site      6571
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="major polyA site"
     regulatory      6681..6686
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="hexamer: ATTAAA"
     polyA_site      6701
                     /gene="NRCAM"
                     /gene_synonym="NEDNMS"
                     /note="major polyA site"
ORIGIN
        1 agcctcgctt cgccagggtc gctggcggac gcgcgccgca gtccgagcct cagacgcgcg
       61 ggcgcggggg acggcgcagg ggccgcctgg ctggagcagc cagaggggat agcttcgtcg
      121 agaacggagg acaccggcgg tccagggtcc tgggcagtcg cgccagagct gagcggaggg
      181 cgcggcgcga gaacgaatct ttgtgacatt ctctctcagc attctttatc ccctgtttgc
      241 tgaagacttc gacaaaagct ggtcttagct gttggcattc tcctgagaaa aggatagctt
      301 cagaaatcag aaaaacattt gggaggtgtc tagcccagtg gaccttctga agagcaatgc
      361 taagaagacg tttggtttaa agaattaaaa ggaagaacaa cttaagagct tcttcaaagt
      421 ttcccgcatg aaaattactt aaacgttgca cacaacgttt cacaaaatct tttgtgaaag
      481 aagaaaagga aattcagtgt gtgagtctca gcaggagtta agctaatgca gcttaaaata
      541 atgccgaaaa agaagcgctt atctgcgggc agagtgcccc tgattctctt cctgtgccag
      601 atgattagtg cactggaagt acctcttgat ccaaaacttc ttgaagactt ggtacagcct
      661 ccaaccatca cccaacagtc tccaaaagat tacattattg accctcggga gaatattgta
      721 atccagtgtg aagccaaagg gaaaccgccc ccaagctttt cctggacccg taatgggact
      781 cattttgaca tcgataaaga ccctctggtc accatgaagc ctggcacagg aacgctcata
      841 attaacatca tgagcgaagg gaaagctgag acctatgaag gagtctatca gtgtacagca
      901 aggaacgaac gcggagctgc agtttctaat aacattgttg tccgcccatc cagatcacca
      961 ttgtggacca aagaaaaact tgaaccaatc acacttcaaa gtggtcagtc tttagtactt
     1021 ccctgcagac ccccaattgg attaccacca cctataatat tttggatgga taattccttt
     1081 caaagacttc cacaaagtga gagagtttct caaggtttga atggggacct ttatttttcc
     1141 aatgtcctcc cagaggacac ccgcgaagac tatatctgtt atgctagatt taatcatact
     1201 caaaccatac agcagaagca acctatttct gtgaaggtga tttcagtgga tgaattgaat
     1261 gacactatag ctgctaattt gagtgacact gagttttatg gtgctaaatc aagtagagag
     1321 aggccaccaa catttttaac tccagaaggc aatgcaagta acaaagagga attaagagga
     1381 aatgtgcttt cactggagtg cattgcagaa ggactgccta ccccaattat ttactgggca
     1441 aaggaagatg gaatgctacc caaaaacagg acagtttata agaactttga gaaaaccttg
     1501 cagatcattc atgtttcaga agcagactct ggaaattacc aatgtatagc aaaaaacgca
     1561 ttaggagcca tccaccatac catttctgtt agagttaaag cggctccata ctggatcaca
     1621 gcccctcaaa atcttgtgct gtccccagga gaggatggga ccttgatctg cagagctaat
     1681 ggcaacccca aacccagaat tagctggtta acaaatggag tcccaataga aattgcccct
     1741 gatgacccca gcagaaaaat agatggcgat accattattt tttcaaatgt tcaagaaaga
     1801 tcaagtgcag tctatcagtg caatgcctct aatgaatatg gatatttact ggcaaacgca
     1861 tttgtaaatg tgctggctga gccaccacga atcctcacac ctgcaaacac actctaccag
     1921 gtcattgcaa acaggcctgc tttactagac tgtgccttct ttgggtctcc tctcccaacc
     1981 atcgagtggt ttaaaggagc taaaggaagt gctcttcatg aagatattta tgttttacat
     2041 gaaaatggaa ctttggaaat tcctgtggcc caaaaggaca gtacaggaac ttatacgtgt
     2101 gttgcaagga ataaattagg gatggcgaag aatgaagttc acttagaaat caaagatcct
     2161 acatggatcg ttaaacagcc cgaatatgca gttgtgcaaa gagggagcat ggtgtccttt
     2221 gaatgcaaag tgaaacatga tcacacctta tccctcactg tcctgtggct gaaggacaac
     2281 agggaactgc ccagtgatga aaggttcact gttgacaagg atcatctagt ggtagctgat
     2341 gtcagtgacg atgacagcgg gacctacacg tgtgtggcca acaccactct ggacagcgtc
     2401 tccgccagcg ctgtgcttag cgttgttgct cctactccaa ctccagctcc cgtttacgat
     2461 gtcccaaatc ctccctttga cttagaactg acagatcaac ttgacaaaag tgttcagctg
     2521 tcatggaccc caggcgatga caacaatagc cccattacaa aattcatcat cgaatatgaa
     2581 gatgcaatgc acaagccagg gctgtggcac caccaaactg aagtttctgg aacacagacc
     2641 acagcccagc tgaagctgtc tccttacgtg aactactcct tccgcgtgat ggcagtgaac
     2701 agcattggga agagcttgcc cagcgaggcg tctgagcagt atttgacgaa agcctcagaa
     2761 ccagataaaa accccacagc tgtggaagga ctgggatcag agcctgataa tttggtgatt
     2821 acgtggaagc ccttgaatgg tttcgaatct aatgggccag gccttcagta caaagttagc
     2881 tggcgccaga aagatggtga tgatgaatgg acatctgtgg ttgtggcaaa tgtatccaaa
     2941 tatattgtct caggcacgcc aacctttgtt ccatacctga tcaaagttca ggccctgaat
     3001 gacatggggt ttgcccccga gccagctgta gtcatgggac attctggaga agacctccca
     3061 atggtggctc ctgggaacgt gcgtgtgaat gtggtgaaca gtaccttagc cgaggtgcac
     3121 tgggacccag tacctctgaa aagcatccga ggacacctac aaggctatcg gatttactat
     3181 tggaagaccc agagttcatc taaaagaaac agacgtcaca ttgagaaaaa gatcctcacc
     3241 ttccaaggca gcaagactca tggcatgttg ccggggctag agccctttag ccactacaca
     3301 ctgaatgtcc gagtggtcaa tgggaaaggg gagggcccag ccagccctga cagagtcttt
     3361 aatactccag aaggagtccc cagtgctccc tcgtctttga agattgtgaa tccaacactg
     3421 gactctctca ctttggaatg ggatccaccg agccacccga atggcatttt gacagagtac
     3481 accttaaagt atcagccaat taacagcaca catgaattag gccctctggt agatttgaaa
     3541 attcctgcca acaagacacg gtggacttta aaaaatttaa atttcagcac tcgatataag
     3601 ttttatttct atgcacaaac atcagcagga tcaggaagtc aaattacaga ggaagcagta
     3661 acaactgtgg atgaagctgg tattcttcca cctgatgtag gtgcaggcaa agttcaagca
     3721 gtaaatccca ggatcagcaa tcttactgct gcagctgctg agacctatgc caatatcagt
     3781 tgggaatatg agggaccaga gcatgtgaac ttttatgttg aatatggtgt agcaggcagc
     3841 aaagaagaat ggagaaaaga aattgtaaat ggttctcgga gcttctttgg gttaaagggt
     3901 ctaatgccag gaacagcata caaagttcga gttggtgctg tgggggactc tggttttgtg
     3961 agttcagagg atgtgtttga gacaggccca gcgatggcaa gccggcaggt ggatattgca
     4021 actcagggct ggttcattgg tctgatgtgt gctgttgctc tccttatctt aattttgctg
     4081 attgtttgct tcatcagaag aaacaagggt ggtaaatatc cagttaaaga aaaggaagat
     4141 gcccatgctg accctgaaat ccagcctatg aaggaagatg atgggacatt tggagaatac
     4201 agtgatgcag aagaccacaa gcctttgaaa aaaggaagtc gaactccttc agacaggact
     4261 gtgaaaaaag aagatagtga cgacagccta gttgactatg gagaaggggt taatggccag
     4321 ttcaatgagg atggctcctt tattggacaa tacagtggta agaaagagaa agagccggct
     4381 gaaggaaacg aaagctcaga ggcaccttct cctgtcaacg ccatgaattc ctttgtttaa
     4441 tttttaagct ctttgccaat attccatttc tctagaatgt ttatcctaag cacttgtttg
     4501 tcagccctct catactatga acatatgggt agagagtata ttttctgctg tatgttagta
     4561 ttatgagaat agttacagca aaaacataac tcagtcaaat gatatgttaa tatgaactgg
     4621 aatgcaaagt gcatactttt tcattcaaaa tgggtattct tgatttcctc agaactgata
     4681 aaaaataatg caacatcacc aacagatcct gttatttcct ctgcaggata cagttcaata
     4741 tgatgcatga aaaatgctcc acatttaaag gacatacccg tgtatgttat gaaaacatgg
     4801 tttgatactt tgtttatact accctcagct gaacccctat atatgaattc cgttttcatt
     4861 gtcaagaatg ttactgtagt attctctaga acttcaatgt ctttgtggac attgttgtga
     4921 aattggtgac tatgtatagc tgtcgttagt ctttttggga gactgttagg aacagtttgt
     4981 acagtatata cttgctaaat gagttcatta tgacagtcac attgctgatg cttactgaga
     5041 actattacct actcttggct cctgttactc cgtaggcttc ttaatcttcc aggcattaca
     5101 gcagcacagt gttctacttt ttacatcatt tctatgttcg gttgttttta ggcataaaca
     5161 atgtgtattg cagtgcattt cggcatttgt gccatactga aagaatcaaa aacaaatcat
     5221 ccaaattaaa tttcaaacat tatttcagag aacacagggc aagacacata cagtgccttc
     5281 agatattaag cattccacaa catcgtgcat tctgtatcag ctggtccagt ccattctggg
     5341 tcctagatta ctgtcattgt ctaaaagtaa cttttaaaaa gcagagttca tgaaaactgc
     5401 aatgctggga aaagaaggaa acatgaaaat aaaaataaga cagtttatta gaaatagcat
     5461 ttcctcataa gcataaaaag aaaatctttg ttgccaactg aagcacatga tgattttgtg
     5521 gtcctttatg gtttctatta cattcagtaa gaaagatgtc aacatgctag aaaattaatt
     5581 ttaaaactaa gttattccaa cactaaaagc atacaacagc atgccaacag taatatatta
     5641 ttctccaaga ctttacctat gtaagtgttc aaaactctgc agcattaaac aacgtgtatg
     5701 caaattgtta tggatacatt tcagaatcta agaaatcagg caagtgctta aaaggccaac
     5761 ggtccaaggg attacatctg cagtttaaaa agtaaatata tattctatcg tattcataaa
     5821 caatatctat caaatgggtt acctccaaat atgaaaatct ataacaacct atggttgaag
     5881 gaatgctcag tttcatttgc caataaattg gtttctcata acttgcatca agtttaattt
     5941 taagtaaagc tttttatatg tagatatttt gttgaatttg taaatacact taaaatgtag
     6001 atgctatatg cttataggtg ttacatacaa ataaacatgc aatgtttatg ttgtactgta
     6061 taagaggtaa gctaattaat gcagtgaatg ggattggaaa gcatctactt aaatatctat
     6121 tgggttcccc cctcccccca ccttttttgc tgtgaaactg aaatagtgaa cttttctacg
     6181 tattgacagc agatttttcg atgaaatctt cagagctttg cctatggggc acagtaggcc
     6241 tagtaacctg gcatgtttga tatatgtagg taaagcataa tttaaagtaa tcccaggtaa
     6301 agatggccct aaatactttc atgtctctat attcattttt cacagatcca cctgtctctt
     6361 gaaaatataa aaagacaaaa caggtttgcc ttggcatcag agagcacaaa gattaaaagt
     6421 tactttaaat ttgccaatat tttgggagaa caataaaact acattttttc ctcttccata
     6481 ctggtagatg cgaaatttat ctgtgcatga aagggtcact tctgtaatag tgcaacagat
     6541 ttggtattaa aaattaaatg tggttttaaa agttcctctc tcttttgtaa tttatgttcc
     6601 caattgagtg tgaatgtcca agtaatggtg tatgtaatgg tacaggcaaa tgtgactgga
     6661 tttccctcaa aaaagtaact attaaacagt cttgatctct t
//
LOCUS       NM_001037160            3045 bp    mRNA    linear   PRI 14-JUL-2023
DEFINITION  Homo sapiens cystin 1 (CYS1), mRNA.
ACCESSION   NM_001037160
VERSION     NM_001037160.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3045)
  AUTHORS   Yang C, Harafuji N, O'Connor AK, Kesterson RA, Watts JA, Majmundar
            AJ, Braun DA, Lek M, Laricchia KM, Fathy HM, Mane S, Shril S,
            Hildebrandt F and Guay-Woodford LM.
  TITLE     Cystin genetic variants cause autosomal recessive polycystic kidney
            disease associated with altered Myc expression
  JOURNAL   Sci Rep 11 (1), 18274 (2021)
   PUBMED   34521872
  REMARK    GeneRIF: Cystin genetic variants cause autosomal recessive
            polycystic kidney disease associated with altered Myc expression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3045)
  AUTHORS   Lee JH, Cho MH, Hersh CP, McDonald ML, Crapo JD, Bakke PS, Gulsvik
            A, Comellas AP, Wendt CH, Lomas DA, Kim V and Silverman EK.
  CONSRTM   COPDGene and ECLIPSE Investigators
  TITLE     Genetic susceptibility for chronic bronchitis in chronic obstructive
            pulmonary disease
  JOURNAL   Respir Res 15 (1), 113 (2014)
   PUBMED   25241909
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3045)
  AUTHORS   Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA,
            Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J,
            Jugurnauth-Little S, Dadaev T, Neal DE, Hamdy FC, Donovan JL, Muir
            K, Giles GG, Severi G, Wiklund F, Gronberg H, Haiman CA, Schumacher
            F, Henderson BE, Le Marchand L, Lindstrom S, Kraft P, Hunter DJ,
            Gapstur S, Chanock SJ, Berndt SI, Albanes D, Andriole G, Schleutker
            J, Weischer M, Canzian F, Riboli E, Key TJ, Travis RC, Campa D,
            Ingles SA, John EM, Hayes RB, Pharoah PD, Pashayan N, Khaw KT,
            Stanford JL, Ostrander EA, Signorello LB, Thibodeau SN, Schaid D,
            Maier C, Vogel W, Kibel AS, Cybulski C, Lubinski J, Cannon-Albright
            L, Brenner H, Park JY, Kaneva R, Batra J, Spurdle AB, Clements JA,
            Teixeira MR, Dicks E, Lee A, Dunning AM, Baynes C, Conroy D,
            Maranian MJ, Ahmed S, Govindasami K, Guy M, Wilkinson RA, Sawyer EJ,
            Morgan A, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker CC,
            Van As NJ, Woodhouse CJ, Thompson A, Dudderidge T, Ogden C, Cooper
            CS, Lophatananon A, Cox A, Southey MC, Hopper JL, English DR, Aly M,
            Adolfsson J, Xu J, Zheng SL, Yeager M, Kaaks R, Diver WR, Gaudet MM,
            Stern MC, Corral R, Joshi AD, Shahabi A, Wahlfors T, Tammela TL,
            Auvinen A, Virtamo J, Klarskov P, Nordestgaard BG, Roder MA, Nielsen
            SF, Bojesen SE, Siddiq A, Fitzgerald LM, Kolb S, Kwon EM, Karyadi
            DM, Blot WJ, Zheng W, Cai Q, McDonnell SK, Rinckleb AE, Drake B,
            Colditz G, Wokolorczyk D, Stephenson RA, Teerlink C, Muller H,
            Rothenbacher D, Sellers TA, Lin HY, Slavov C, Mitev V, Lose F,
            Srinivasan S, Maia S, Paulo P, Lange E, Cooney KA, Antoniou AC,
            Vincent D, Bacot F, Tessier DC, Kote-Jarai Z and Easton DF.
  CONSRTM   COGS-Cancer Research UK GWAS-ELLIPSE (part of GAME-ON) Initiative;
            Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer
            Study Collaborators/British Association of Urological Surgeons'
            Section of Oncology; UK ProtecT (Prostate testing for cancer and
            Treatment) Study Collaborators; PRACTICAL (Prostate Cancer
            Association Group to Investigate Cancer-Associated Alterations in
            the Genome) Consortium
  TITLE     Identification of 23 new prostate cancer susceptibility loci using
            the iCOGS custom genotyping array
  JOURNAL   Nat Genet 45 (4), 385-391 (2013)
   PUBMED   23535732
REFERENCE   4  (bases 1 to 3045)
  AUTHORS   Wright KJ, Baye LM, Olivier-Mason A, Mukhopadhyay S, Sang L, Kwong
            M, Wang W, Pretorius PR, Sheffield VC, Sengupta P, Slusarski DC and
            Jackson PK.
  TITLE     An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the
            primary cilium
  JOURNAL   Genes Dev 25 (22), 2347-2360 (2011)
   PUBMED   22085962
REFERENCE   5  (bases 1 to 3045)
  AUTHORS   Fliegauf M, Frohlich C, Horvath J, Olbrich H, Hildebrandt F and
            Omran H.
  TITLE     Identification of the human CYS1 gene and candidate gene analysis in
            Boichis disease
  JOURNAL   Pediatr Nephrol 18 (6), 498-505 (2003)
   PUBMED   12733055
  REMARK    GeneRIF: genomic region comprises three coding exons, which span 22
            kb and the transcript harbors an open reading frame of 477
            nucleotides encoding a protein with 158 amino acid residues, which
            is called cystin
REFERENCE   6  (bases 1 to 3045)
  AUTHORS   Hou X, Mrug M, Yoder BK, Lefkowitz EJ, Kremmidiotis G, D'Eustachio
            P, Beier DR and Guay-Woodford LM.
  TITLE     Cystin, a novel cilia-associated protein, is disrupted in the cpk
            mouse model of polycystic kidney disease
  JOURNAL   J Clin Invest 109 (4), 533-540 (2002)
   PUBMED   11854326
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK091299.1, AF544983.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142586,
            SAMEA2145774 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381813.5/ ENSP00000371234.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104794.4.
            On Apr 30, 2021 this sequence version replaced NM_001037160.2.
FEATURES             Location/Qualifiers
     source          1..3045
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.1"
     gene            1..3045
                     /gene="CYS1"
                     /note="cystin 1"
                     /db_xref="GeneID:192668"
                     /db_xref="HGNC:HGNC:18525"
                     /db_xref="MIM:618713"
     misc_feature    45..47
                     /gene="CYS1"
                     /note="upstream in-frame stop codon"
     CDS             189..665
                     /gene="CYS1"
                     /note="cilia-associated protein"
                     /codon_start=1
                     /product="cystin-1"
                     /protein_id="NP_001032237.1"
                     /db_xref="CCDS:CCDS33145.1"
                     /db_xref="GeneID:192668"
                     /db_xref="HGNC:HGNC:18525"
                     /db_xref="MIM:618713"
                     /translation="MGSGSSRSSRTLRRRRSPESLPAGPGAAALEGGTRRRVPVAAAEV
                     PGAAAEEAPGRDPSPVAPPDGRDETLRLLDELLAESAAWGPPEPAPRRPARLRPTAVAG
                     SAVCAEQSTEGHPGSGNVSEAPGSGRKKPERPAAISYDHSEEGLMASIEREYCR"
     misc_feature    189..626
                     /gene="CYS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q717R9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    273..287
                     /gene="CYS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q717R9.1);
                     Region: Ciliary targeting motif. /evidence=ECO:0000250"
     regulatory      2655..2660
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYS1"
                     /note="hexamer: AATAAA"
     polyA_site      2679
                     /gene="CYS1"
                     /note="major polyA site"
     regulatory      2704..2709
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYS1"
                     /note="hexamer: AATAAA"
     regulatory      2717..2722
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYS1"
                     /note="hexamer: AATAAA"
     polyA_site      2722
                     /gene="CYS1"
     polyA_site      2735
                     /gene="CYS1"
                     /note="major polyA site"
     polyA_site      3045
                     /gene="CYS1"
                     /note="major polyA site"
ORIGIN
        1 gctcgcaccc ccgtcctccg gccgcgaccc ccgcccggga accctagccc ctggccgcgg
       61 tcgcttcccg gacctcgccc cgcgcctccc cctgcagccc gccccggccg caccccctag
      121 cgtccccgcc cccggccgcg ccccctcatg ggggccccct cggcggtccg ggaggcggcg
      181 ggcgcgccat gggcagcggc agcagccgga gcagccggac tctgaggcgg cggcgcagcc
      241 ccgagagcct ccccgcgggg cccggagcgg cagccctgga gggcgggacc cgccggcggg
      301 tgccggtggc ggcggccgag gtcccggggg cagccgcgga ggaggcgccc ggccgcgacc
      361 ccagccccgt ggcgcccccc gacggcaggg acgagacgct gcgcctgctg gacgagctgc
      421 tggccgagtc ggcggcctgg ggccccccgg agcccgcccc gcgccgccca gcccggctcc
      481 gacccaccgc ggtcgcgggg agcgcggtgt gcgcagagca gagcacagag ggccacccgg
      541 ggagcggcaa tgtctctgaa gccccaggca gcggtcgcaa gaagcccgag aggccggcag
      601 ccatctccta cgaccactcg gaagaggggc tgatggcgag catcgagcgg gagtactgcc
      661 gctgaggaca gcatgctcca cccccgccag gcctcggagg cacctgctgg ctggggcacc
      721 ctctgcttgc acagagctct agcaggagct gaaccacctc caaaacgcag tcactcccgg
      781 atattcaaag ctgccctttc aaatccactt tcagaccgcg ctgacctggg ccagccactg
      841 gcggtcatgg ttgctggtgg gggcgattag ctgtgtagac ccacaggtgc gtgggcctgg
      901 gccgccggcg cctcctcccc aacgcgggga gcctgcccag ttcttctgga gcctgaaatg
      961 cgtgcccctc ttggttgccc gctctccaca gtggggaggg ctcacgagga ctaggtgaca
     1021 caagcgagcc cctcctggca tccgcgccac aacacttccg gaaggttctg ctgtggaagg
     1081 tgcacccgcg ctgctccctc agtctcgggc ccatctctcc aggggtggcc gggtcagctt
     1141 agtgcttctc aactttaact ccctaatgag cagcctgggg gtgctgttga cttgcagggc
     1201 ctgaggttct gtacgtctaa ccagctccca gcccaggccc gagctccgaa gccccaactg
     1261 cactttgagg agcgagaacc ccagctctga tctgccttgc agtgggaggt agagctcgtc
     1321 actgcctctc tgggcctcag tttccctctc tggaaaatca gctctggcag ctcttggagg
     1381 ccctccccag ctctgacaat ctggaactgc tgccactgct ggtcccctgc cccaggcaca
     1441 gcagtgcctt ccctgcgggg agccagcgcc caggtccaac cgggagaggg tctgcctgat
     1501 actggctttc cagttctccc tctcacaggc agcctggcca gtgcctgcgg ggcttttaaa
     1561 ttctcttcct gcctgggtgg aaggtgggaa accacagcag tgaggcagga agagccttgg
     1621 aatgttcctg gttgacagat gggaaaactg acctgcccag gacgccctgg gaacaggggg
     1681 cggagctccg gctagagggg actcctgtgt gggcgggcag gtctggagcc tgggcccagg
     1741 tgtggcctgc tgggggacag ctccggggga gagctgtggg gagaacagcg gtctagggag
     1801 gcaggaggca ggcggcaggc tcctccccag cagcctgcag ggcatcagga cagaggggga
     1861 aggaggagac agaagggaaa gaaggagata gagggggaag gaggaaacag cgcggcttct
     1921 gctgaagcca gtacaagcct ggttatctgg cttgacccgc ccacacggag gcctccccag
     1981 cgttttcttt ttcccgagaa gagctccagc tcgcaggtcc ttagaacaca gcagagcagg
     2041 agcatctcag gaaccaacgg ccagctcctt ggcgctgtcc ccagccccac aggcctgctg
     2101 cggccatccg caaacgggca tttccttgaa cttttgagag tgcctttgac cagctgttcg
     2161 cagctgggaa actccaactt ttgaagtcag agcttggagc ggcccccgca agggcgtggc
     2221 tcaaaccctc cccagagctg ggagccattg cttatgcaag cccgtttctt ttgatgtaaa
     2281 gatggaagtc gttactatat tttaataatg caaatacatc ttttaaaata agttaacatt
     2341 tcttaccacc agatggatca ggctttgaat ttaaacatgt aaatgtttgt aattttatgt
     2401 cattttgtta aaatgggacg ctttcaattg gtttccaaga aagatgatac ctctgcattt
     2461 tctggtggaa aaggtgtaat acccttaatg agatcaaagt gttaggggaa aaaaattcca
     2521 aaagtagtta caagctatat caatgtcaaa gtaaatgcac ttcatcaaag ctaagaagtc
     2581 acaggaattg ttctcaggtt tttaaaaaaa tttttcctga attcaggaag tgtcttctga
     2641 atagcagcta gccaaataaa gcggtgtgtg tgtactgcag ctgtaggtga acttaaaaat
     2701 aataataaaa agaacaaata aagcagtgtg taccagccgc tgagccggcc ctgtctctgt
     2761 cctgtgagac ggaggggctg tgcctggaag tagaggggtg ggcgttgctg cagcctgcag
     2821 cccggcccga gtctgtccca gtgcctcctg tgtgcctggc acctcctcag gcatcttcct
     2881 ggctgcccca tgttgcagct gagcctcagc gtcctgctag aactgcgtgt gggatttgct
     2941 cactgccagg atgggactgt ggctggaatg gaggcagaaa gaaacacatc tcaaaggcaa
     3001 aaatgacgca cgttgttgtc tggaaaaatc ttaagtgacc acaaa
//
LOCUS       NM_001037161            1686 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens acyl-CoA thioesterase 1 (ACOT1), mRNA.
ACCESSION   NM_001037161
VERSION     NM_001037161.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1686)
  AUTHORS   Yu Y, Zhang Z, Dong X, Yang R, Duan Z, Xiang Z, Li J, Li G, Yan F,
            Xue H, Jiao D, Lu J, Lu H, Zhang W, Wei Y, Fan S, Li J, Jia J, Zhang
            J, Ji J, Liu P, Lu H, Zhao H, Chen S, Wei C, Chen H and Zhu Z.
  TITLE     Pangenomic analysis of Chinese gastric cancer
  JOURNAL   Nat Commun 13 (1), 5412 (2022)
   PUBMED   36109518
  REMARK    GeneRIF: Genes ACOT1, GSTM1, SIGLEC14 and UGT2B17 are identified as
            highly absent genes in gastric cancer population. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1686)
  AUTHORS   St Clair LA, Mills SA, Lian E, Soma PS, Nag A, Montgomery C, Ramirez
            G, Chotiwan N, Gullberg RC and Perera R.
  TITLE     Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty
            Acids Modulates Dengue Virus Serotype 2 Replication
  JOURNAL   Viruses 14 (2), 240 (2022)
   PUBMED   35215835
  REMARK    GeneRIF: Acyl-Coa Thioesterases: A Rheostat That Controls Activated
            Fatty Acids Modulates Dengue Virus Serotype 2 Replication.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1686)
  AUTHORS   Cavalli M, Diamanti K, Dang Y, Xing P, Pan G, Chen X and Wadelius C.
  TITLE     The Thioesterase ACOT1 as a Regulator of Lipid Metabolism in Type 2
            Diabetes Detected in a Multi-Omics Study of Human Liver
  JOURNAL   OMICS 25 (10), 652-659 (2021)
   PUBMED   34520261
  REMARK    GeneRIF: The Thioesterase ACOT1 as a Regulator of Lipid Metabolism
            in Type 2 Diabetes Detected in a Multi-Omics Study of Human Liver.
REFERENCE   4  (bases 1 to 1686)
  AUTHORS   Wang F, Wu J, Qiu Z, Ge X, Liu X, Zhang C, Xu W, Wang F, Hua D, Qi X
            and Mao Y.
  TITLE     ACOT1 expression is associated with poor prognosis in gastric
            adenocarcinoma
  JOURNAL   Hum Pathol 77, 35-44 (2018)
   PUBMED   29555575
  REMARK    GeneRIF: that increased expression of ACOT1 is correlated with
            pivotal clinicopathological parameters and poor prognosis in gastric
            adenocarcinoma through increased expression of the potential
            tumor-promoting protein GLI3
REFERENCE   5  (bases 1 to 1686)
  AUTHORS   Li J, Liu F, Wang H, Liu X, Liu J, Li N, Wan F, Wang W, Zhang C, Jin
            S, Liu J, Zhu P and Liu Y.
  TITLE     Systematic mapping and functional analysis of a family of human
            epididymal secretory sperm-located proteins
  JOURNAL   Mol Cell Proteomics 9 (11), 2517-2528 (2010)
   PUBMED   20736409
REFERENCE   6  (bases 1 to 1686)
  AUTHORS   Hunt MC, Rautanen A, Westin MA, Svensson LT and Alexson SE.
  TITLE     Analysis of the mouse and human acyl-CoA thioesterase (ACOT) gene
            clusters shows that convergent, functional evolution results in a
            reduced number of human peroxisomal ACOTs
  JOURNAL   FASEB J 20 (11), 1855-1864 (2006)
   PUBMED   16940157
REFERENCE   7  (bases 1 to 1686)
  AUTHORS   Hunt MC, Yamada J, Maltais LJ, Wright MW, Podesta EJ and Alexson SE.
  TITLE     A revised nomenclature for mammalian acyl-CoA
            thioesterases/hydrolases
  JOURNAL   J Lipid Res 46 (9), 2029-2032 (2005)
   PUBMED   16103133
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX161396.1, DQ082754.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000311148.9/ ENSP00000311224.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005225.2 and DQ082754.1.
            On Nov 23, 2018 this sequence version replaced NM_001037161.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1686
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..1686
                     /gene="ACOT1"
                     /gene_synonym="ACH2; CTE-1; LACH2"
                     /note="acyl-CoA thioesterase 1"
                     /db_xref="GeneID:641371"
                     /db_xref="HGNC:HGNC:33128"
                     /db_xref="MIM:614313"
     misc_feature    172..174
                     /gene="ACOT1"
                     /gene_synonym="ACH2; CTE-1; LACH2"
                     /note="upstream in-frame stop codon"
     CDS             280..1545
                     /gene="ACOT1"
                     /gene_synonym="ACH2; CTE-1; LACH2"
                     /EC_number="3.1.2.2"
                     /note="CTE-I; CTE-Ib; long chain acyl-CoA hydrolase;
                     palmitoyl-coenzyme A thioesterase; long chain acyl-CoA
                     thioester hydrolase; inducible cytosolic acyl-coenzyme A
                     thioester hydrolase"
                     /codon_start=1
                     /product="acyl-coenzyme A thioesterase 1"
                     /protein_id="NP_001032238.1"
                     /db_xref="CCDS:CCDS32117.1"
                     /db_xref="GeneID:641371"
                     /db_xref="HGNC:HGNC:33128"
                     /db_xref="MIM:614313"
                     /translation="MAATLILEPAGRCCWDEPVRIAVRGLAPEQPVTLRASLRDEKGAL
                     FQAHARYRADTLGELDLERAPALGGSFAGLEPMGLLWALEPEKPLVRLVKRDVRTPLAV
                     ELEVLDGHDPDPGRLLCRVRHERYFLPPGVRREPVRAGRVRGTLFLPPEPGPFPGIVDM
                     FGTGGGLLEYRASLLAGKGFAVMALAYYNYEDLPKTMETLHLEYFEEAVNYLLSHPEVK
                     GPGVGLLGISKGGELCLSMASFLKGITAAVVINGSVANVGGTLRYKGETLPPVGVNRNR
                     IKVTKDGYADIVDVLNSPLEGPDQKSFIPVERAESTFLFLVGQDDHNWKSEFYANEACK
                     RLQAHGRRKPQIICYPETGHYIEPPYFPLCRASLHALVGSPIIWGGEPRAHAMAQVDAW
                     KQLQTFFHKHLGGHEGTIPSKV"
     regulatory      1670..1675
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACOT1"
                     /gene_synonym="ACH2; CTE-1; LACH2"
                     /note="hexamer: AATGAA"
     polyA_site      1686
                     /gene="ACOT1"
                     /gene_synonym="ACH2; CTE-1; LACH2"
                     /note="major polyA site"
ORIGIN
        1 attccgcgag ccagcaagct tctgaaaagc aaacctagga agttgctttc caacataaag
       61 tggaggtttc aacacaggag actttaagca agttccagtg tgtctatatt tggtctggct
      121 gatcggctgg actctggcct tccccgctca cattagcaga cagctctgcc ctagtgggcg
      181 tttagcctgc gacggcagcc cgagaggaag agttgggcag agttgcaggg gtctccacag
      241 ctgaggcagt ttggccggat tatttgggtt cctgctcgga tggcggcgac gctgatcctg
      301 gagcccgcgg gccgctgctg ctgggacgaa ccggtgcgaa tcgccgtgcg cggcctagcc
      361 ccggagcagc cggtcacgct gcgcgcgtcc ctgcgcgacg agaagggcgc gcttttccag
      421 gcccacgcgc gctaccgcgc cgacaccctt ggcgagctgg acctggagcg cgcgcccgcg
      481 ctgggcggca gcttcgcggg gcttgagccc atggggctgc tctgggcctt ggagcccgag
      541 aaacccttgg tgcggctggt gaagcgcgac gtgcgaacgc ccttggccgt ggagctggag
      601 gtgctggatg gccacgaccc cgaccccggg cggctgctgt gccgggtgcg gcacgagcgc
      661 tacttcctcc cgcccggggt gcggcgcgag ccggtgcgcg cgggccgggt gcgaggcacg
      721 ctcttcctgc cgccagaacc tgggcccttt cctggcattg tggacatgtt cggaactgga
      781 ggtggcctgc tggagtatcg ggctagtctg ctggctggga agggttttgc tgtgatggct
      841 ctggcttact ataactatga agacctcccc aagaccatgg agacgctcca tctggagtac
      901 tttgaagaag ctgtgaacta cttgctcagt catcctgagg taaaaggtcc aggagttggg
      961 ctgcttggaa tttccaaagg gggtgagctc tgcctttcca tggcctcttt cctgaagggc
     1021 atcacggctg ctgtcgtcat caacggctct gtggccaatg ttgggggaac cttacgctac
     1081 aagggcgaga ccctgccccc tgtgggcgtc aacagaaatc gcatcaaggt gaccaaagat
     1141 ggctatgcag acattgtgga tgtcctgaac agccctttgg aaggacctga ccagaagagc
     1201 ttcattcctg tggaaagggc agagagcacc ttcctgttcc tggtaggtca ggatgaccac
     1261 aactggaaga gtgagttcta tgctaatgag gcctgtaaac gcttgcaggc ccatgggagg
     1321 agaaagcccc agatcatctg ttacccagag acagggcact atattgagcc tccttacttc
     1381 cccctgtgtc gggcttccct gcatgccttg gtgggcagtc ctattatctg gggaggggag
     1441 cccagggctc atgccatggc tcaggtggat gcttggaaac aactccagac tttcttccac
     1501 aaacacttgg gtggccacga ggggacaatc ccatcaaaag tgtaaatttt atttgatcat
     1561 gtggcctctc tgttgctaat ctctcctgga aacatctgcc acatttagtg tgtgtatgtg
     1621 tattcattct ttctcataac ttcttaaagt ttcttcccct cattattaaa atgaatttac
     1681 cagtaa
//
LOCUS       NM_001037163            2220 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens family with sequence similarity 220 member A (FAM220A),
            mRNA.
ACCESSION   NM_001037163
VERSION     NM_001037163.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2220)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2220)
  AUTHORS   Ren F, Geng Y, Minami T, Qiu Y, Feng Y, Liu C, Zhao J, Wang Y, Fan
            X, Wang Y, Li M, Li J and Chang Z.
  TITLE     Nuclear termination of STAT3 signaling through SIPAR
            (STAT3-Interacting Protein As a Repressor)-dependent recruitment of
            T cell tyrosine phosphatase TC-PTP
  JOURNAL   FEBS Lett 589 (15), 1890-1896 (2015)
   PUBMED   26026268
  REMARK    GeneRIF: results suggest that SIPAR terminates the activation of
            STAT3 through a dephosphorylation process that is dependent upon
            interaction with TC45 in the nucleus
REFERENCE   3  (bases 1 to 2220)
  AUTHORS   Ren F, Su F, Ning H, Wang Y, Geng Y, Feng Y, Wang Y, Zhang Y, Jin Z,
            Li Y, Jia B and Chang Z.
  TITLE     SIPAR negatively regulates STAT3 signaling and inhibits progression
            of melanoma
  JOURNAL   Cell Signal 25 (11), 2272-2280 (2013)
   PUBMED   23917203
REFERENCE   4  (bases 1 to 2220)
  AUTHORS   Ueda T, Manabe H, Tokuhiro K, Hirose M, Matsuoka Y, Miyagawa Y,
            Tsujimura A, Fujita K, Wada M, Okuyama A, Nishimune Y and Tanaka H.
  TITLE     Unique alternative translation from two open reading frames on
            Acpin1 mRNA yields an acrosomal protein and a
            salivary-gland-specific protein
  JOURNAL   Int J Urol 16 (7), 639-646 (2009)
   PUBMED   19659802
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.450904.1,
            SRR3476690.81585.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            bicistronic transcript      :: PMID: 19659802
            MANE Ensembl match          :: ENST00000313324.9/ ENSP00000317289.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009412.6, BP354450.1 and AF533707.1.
            On Nov 22, 2018 this sequence version replaced NM_001037163.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2220
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.1"
     gene            1..2220
                     /gene="FAM220A"
                     /gene_synonym="ACPIN1; C7orf70; SIPAR"
                     /note="family with sequence similarity 220 member A"
                     /db_xref="GeneID:84792"
                     /db_xref="HGNC:HGNC:22422"
                     /db_xref="MIM:616628"
     misc_feature    210..416
                     /gene="FAM220A"
                     /gene_synonym="ACPIN1; C7orf70; SIPAR"
                     /note="CDS of the other protein (SAGSIN1) encoded by this
                     bicistronic transcript"
     misc_feature    414..416
                     /gene="FAM220A"
                     /gene_synonym="ACPIN1; C7orf70; SIPAR"
                     /note="upstream in-frame stop codon"
     CDS             477..1256
                     /gene="FAM220A"
                     /gene_synonym="ACPIN1; C7orf70; SIPAR"
                     /note="STAT3-interacting protein as a repressor; acrosomal
                     protein 1"
                     /codon_start=1
                     /product="protein FAM220A"
                     /protein_id="NP_001032240.1"
                     /db_xref="CCDS:CCDS34599.1"
                     /db_xref="GeneID:84792"
                     /db_xref="HGNC:HGNC:22422"
                     /db_xref="MIM:616628"
                     /translation="MRDRRGPLGTCLAQVQQAGGGDSDKLSCSLKKRMPEGPWPADAPS
                     WMNKPVVDGNSQSEALSLEMRKDPSGAGLWLHSGGPVLPYVRESVRRNPASAATPSTAV
                     GLFPAPTECFARVSCSGVEALGRRDWLGGGPRATDGHRGQCPKGEPRVSRLPRHQKVPE
                     MGSFQDDPPSAFPKGLGSELEPACLHSILSATLHVYPEVLLSEETKRIFLDRLKPMFSK
                     QTIEFKKMLKSTSDGLQITLGLLALQPFELANTLCHS"
     misc_feature    477..608
                     /gene="FAM220A"
                     /gene_synonym="ACPIN1; C7orf70; SIPAR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z4H9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    867..938
                     /gene="FAM220A"
                     /gene_synonym="ACPIN1; C7orf70; SIPAR"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z4H9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2201..2206
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM220A"
                     /gene_synonym="ACPIN1; C7orf70; SIPAR"
                     /note="hexamer: AATAAA"
     polyA_site      2220
                     /gene="FAM220A"
                     /gene_synonym="ACPIN1; C7orf70; SIPAR"
                     /note="major polyA site"
ORIGIN
        1 aggctgcgcg gccaggctgg tacaggcggc tgctcgcgga ggcacttctc cgagcgtgac
       61 gtgcggactc cgctccactg cggcccgccc gcccgccggt ctagccgccg cctccttcgc
      121 tccctgagca cgccaggcga gggtcagctg ccggggcgac gcggcgcgga gagggcgggc
      181 gggggggctg tgggagcgcc ggtctctata tggcggcggc tctgtcgggc ctggctgtcc
      241 ggctctcgcg ctcggccgcc gcccgctcct atggggtctt ctgcaagggg ctgactcgca
      301 cgctgctcat cttcttcgac ctggcctggc ggctgcgtat caacttcccc tacctctaca
      361 tcgtggcttc catgatgctc aacgtccgcc tgcaggttca tattgagatc cattgaaggc
      421 cctcccagac tgacgaaggc gtgacctcag gcccaccgca tccaagaaca cgaagcatga
      481 gggacagaag agggcccctc ggcacctgcc tggcacaagt gcagcaggcc ggaggaggtg
      541 actcggacaa actatcatgc agccttaaga aaagaatgcc ggagggccct tggcctgcag
      601 atgcaccctc ctggatgaat aagcctgtgg ttgatggaaa ttcacaaagt gaggcattat
      661 cactggaaat gagaaaggat ccgagcgggg ctggcctctg gcttcacagt ggcggcccag
      721 tgcttccata tgtgagagaa tcagtaagaa gaaatccagc ctcagcagcc actccgagca
      781 cagccgtggg tttgttccct gctccaacag agtgttttgc tcgggtgtcc tgcagtggtg
      841 ttgaagctct ggggcggcga gactggctgg gaggagggcc cagggccact gacggccaca
      901 gaggacagtg ccccaaagga gagcctcggg tgtcacgact gccacgccat caaaaagtgc
      961 cggaaatggg aagttttcag gatgacccac caagtgcttt tcccaagggt ctgggctctg
     1021 agttggaacc cgcttgcctg cactccatcc tgtctgcaac gctgcacgtg tatcccgaag
     1081 tgctcctgag tgaggagaca aaacgcattt tccttgaccg tttaaagccc atgttttcaa
     1141 agcaaacaat agaattcaag aaaatgctta aaagcacctc agatggtctg cagataacac
     1201 tggggttact ggctctgcaa ccttttgaat tagcaaatac attatgccat agttaaggta
     1261 caagcagaac aataccaata gattaatttt aagagttgtc ttagaatgat ttctttcgca
     1321 ttaagtctgg atgcaaactg tgcagccctt aggttcctgc tgtagttttg tacgacctgg
     1381 cagacttaaa gtaaattgag tttaaattca aagccagttg atgcggaagg aacttttttg
     1441 gcatgtgtta aattgtgctt taaaagacat ataaagaatt gggaaacatt tcaggagacg
     1501 atcatagcct gtataaatac cagattagaa catacggatt taccatgaag ttctgtcttc
     1561 aacatccatt ctaaagggct actgtcccaa atcctgtgtg tccttttgac ttgtctgatc
     1621 acccaatgga agtggatact tgtaaagtct acaccactgt acttggcgtt aaatcttgct
     1681 gaattcgtgg taagctgtta ccatgtctac attttgtaga atgattttgg tctgcagcaa
     1741 aattcgattt cacttctcat acccctttcc ttccacttga aatgcaattt agacagaggc
     1801 cctgtggtga aagttgcaat attaagttta cctttagaag atcccttctc aaactcagaa
     1861 ccctagcagt gttaccttaa acaaaaatga gctcgagaaa aaagtagctc agttacagag
     1921 aagcaaatcg agttatttcc cacataaaaa gtttcccaga ttctaagaat tgcagtatcc
     1981 tgtaccctaa aatttttcaa ggtgactcct gttgtcgtct gttgataact ttaataaagg
     2041 tcatttaagg acataagttt ttaaagactc ccaaagtgaa acttaaacat tttcgggatt
     2101 atcgattgca tatatcagtt tatgctgtgt gctgaattac tatgccatgt gctattttag
     2161 tgtttgggga aaatgaaaaa taaaatttgt tctttagctt aataaatatg tcttatttta
//
LOCUS       NM_001037165           11194 bp    mRNA    linear   PRI 04-JUN-2023
DEFINITION  Homo sapiens forkhead box K1 (FOXK1), mRNA.
ACCESSION   NM_001037165
VERSION     NM_001037165.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 11194)
  AUTHORS   Duan L, Huang J, Zhang Y, Pi G, Ying X, Zeng F, Hu D and Ma J.
  TITLE     FOXK1 regulates epithelial-mesenchymal transition and radiation
            sensitivity in nasopharyngeal carcinoma via the JAK/STAT3 signaling
            pathway
  JOURNAL   Genes Genomics 45 (6), 749-761 (2023)
   PUBMED   37043129
  REMARK    GeneRIF: FOXK1 regulates epithelial-mesenchymal transition and
            radiation sensitivity in nasopharyngeal carcinoma via the JAK/STAT3
            signaling pathway.
REFERENCE   2  (bases 1 to 11194)
  AUTHORS   Li X, Lu J, Liu L, Li F, Xu T, Chen L, Yan Z, Li Y and Guo W.
  TITLE     FOXK1 regulates malignant progression and radiosensitivity through
            direct transcriptional activation of CDC25A and CDK4 in esophageal
            squamous cell carcinoma
  JOURNAL   Sci Rep 13 (1), 7737 (2023)
   PUBMED   37173384
  REMARK    GeneRIF: FOXK1 regulates malignant progression and radiosensitivity
            through direct transcriptional activation of CDC25A and CDK4 in
            esophageal squamous cell carcinoma. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 11194)
  AUTHORS   Shi T, Li R, Duan P, Guan Y, Zhang D, Ding Z and Ruan X.
  TITLE     TRPM2-AS promotes paclitaxel resistance in prostate cancer by
            regulating FOXK1 via sponging miR-497-5p
  JOURNAL   Drug Dev Res 83 (4), 967-978 (2022)
   PUBMED   35238054
  REMARK    GeneRIF: TRPM2-AS promotes paclitaxel resistance in prostate cancer
            by regulating FOXK1 via sponging miR-497-5p.
REFERENCE   4  (bases 1 to 11194)
  AUTHORS   Zhang F, Zhang T, Zhao Z, Ji Y, Peng Y and Zhao L.
  TITLE     Circular RNA Eps15-homology domain containing protein 2 motivates
            proliferation, glycolysis but refrains autophagy in non-small cell
            lung cancer via crosstalk with microRNA-3186-3p and forkhead box K1
  JOURNAL   Bioengineered 13 (3), 6464-6475 (2022)
   PUBMED   35220908
  REMARK    GeneRIF: Circular RNA Eps15-homology domain containing protein 2
            motivates proliferation, glycolysis but refrains autophagy in
            non-small cell lung cancer via crosstalk with microRNA-3186-3p and
            forkhead box K1.
REFERENCE   5  (bases 1 to 11194)
  AUTHORS   Chen W, Li Y, Zhong J and Wen G.
  TITLE     circ-PRKCI targets miR-1294 and miR-186-5p by downregulating FOXK1
            expression to suppress glycolysis in hepatocellular carcinoma
  JOURNAL   Mol Med Rep 23 (6) (2021)
   PUBMED   33880589
  REMARK    GeneRIF: circ-PRKCI targets miR-1294 and miR-186-5p by
            downregulating FOXK1 expression to suppress glycolysis in
            hepatocellular carcinoma.
REFERENCE   6  (bases 1 to 11194)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   7  (bases 1 to 11194)
  AUTHORS   Freddie CT, Ji Z, Marais A and Sharrocks AD.
  TITLE     Functional interactions between the Forkhead transcription factor
            FOXK1 and the MADS-box protein SRF
  JOURNAL   Nucleic Acids Res 35 (15), 5203-5212 (2007)
   PUBMED   17670796
REFERENCE   8  (bases 1 to 11194)
  AUTHORS   Tsai KL, Huang CY, Chang CH, Sun YJ, Chuang WJ and Hsiao CD.
  TITLE     Crystal structure of the human FOXK1a-DNA complex and its
            implications on the diverse binding specificity of winged
            helix/forkhead proteins
  JOURNAL   J Biol Chem 281 (25), 17400-17409 (2006)
   PUBMED   16624804
  REMARK    GeneRIF: crystallographic analysis of the FOXK1a-DNA complex
REFERENCE   9  (bases 1 to 11194)
  AUTHORS   Huang JT and Lee V.
  TITLE     Identification and characterization of a novel human FOXK1 gene in
            silico
  JOURNAL   Int J Oncol 25 (3), 751-757 (2004)
   PUBMED   15289879
REFERENCE   10  (bases 1 to 11194)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of human FOXK1 gene in silico
  JOURNAL   Int J Mol Med 14 (1), 127-132 (2004)
   PUBMED   15202027
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328914.5/ ENSP00000328720.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC072054.10, AC092428.4 and AC092610.1.
            On Nov 23, 2018 this sequence version replaced NM_001037165.1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..11194
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.1"
     gene            1..11194
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="forkhead box K1"
                     /db_xref="GeneID:221937"
                     /db_xref="HGNC:HGNC:23480"
                     /db_xref="MIM:616302"
     CDS             15..2216
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="myocyte nuclear factor; MNF"
                     /codon_start=1
                     /product="forkhead box protein K1"
                     /protein_id="NP_001032242.1"
                     /db_xref="CCDS:CCDS34591.1"
                     /db_xref="GeneID:221937"
                     /db_xref="HGNC:HGNC:23480"
                     /db_xref="MIM:616302"
                     /translation="MAEVGEDSGARALLALRSAPCSPVLCAAAAAAAFPAAAPPPAPAQ
                     PQPPPGPPPPPPPPLPPGAIAGAGSSGGSSGVSGDSAVAGAAPALVAAAAASVRQSPGP
                     ALARLEGREFEFLMRQPSVTIGRNSSQGSVDLSMGLSSFISRRHLQLSFQEPHFYLRCL
                     GKNGVFVDGAFQRRGAPALQLPKQCTFRFPSTAIKIQFTSLYHKEEAPASPLRPLYPQI
                     SPLKIHIPEPDLRSMVSPVPSPTGTISVPNSCPASPRGAGSSSYRFVQNVTSDLQLAAE
                     FAAKAASEQQADTSGGDSPKDESKPPFSYAQLIVQAISSAQDRQLTLSGIYAHITKHYP
                     YYRTADKGWQNSIRHNLSLNRYFIKVPRSQEEPGKGSFWRIDPASEAKLVEQAFRKRRQ
                     RGVSCFRTPFGPLSSRSAPASPTHPGLMSPRSGGLQTPECLSREGSPIPHDPEFGSKLA
                     SVPEYRYSQSAPGSPVSAQPVIMAVPPRPSSLVAKPVAYMPASIVTSQQPAGHAIHVVQ
                     QAPTVTMVRVVTTSANSANGYILTSQGAAGGSHDAAGAAVLDLGSEARGLEEKPTIAFA
                     TIPAAGGVIQTVASQMAPGVPGHTVTILQPATPVTLGQHHLPVRAVTQNGKHAVPTNSL
                     AGNAYALTSPLQLLATQASSSAPVVVTRVCEVGPKEPAAAVAATATTTPATATTASASA
                     SSTGEPEVKRSRVEEPSGAVTTPAGVIAAAGPQGPGTGE"
     misc_feature    18..134
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="propagated from UniProtKB/Swiss-Prot (P85037.1);
                     Region: Interaction with SIN3A and SIN3B.
                     /evidence=ECO:0000250|UniProtKB:P42128"
     misc_feature    18..20
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P85037.1); acetylation site"
     misc_feature    120..251
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="propagated from UniProtKB/Swiss-Prot (P85037.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    297..1274
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="propagated from UniProtKB/Swiss-Prot (P85037.1);
                     Region: Required for interaction with FOXO4 and MEF2C.
                     /evidence=ECO:0000250|UniProtKB:P42128"
     misc_feature    315..317
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P85037.1);
                     phosphorylation site"
     misc_feature    495..497
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P85037.1); methylation site"
     misc_feature    585..587
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P85037.1); methylation site"
     misc_feature    651..653
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P85037.1);
                     phosphorylation site"
     misc_feature    681..683
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P85037.1); phosphorylation site"
     misc_feature    729..731
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P85037.1); phosphorylation site"
     misc_feature    741..743
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P85037.1); phosphorylation site"
     misc_feature    747..749
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P42128; propagated from
                     UniProtKB/Swiss-Prot (P85037.1); phosphorylation site"
     misc_feature    753..755
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P42128; propagated from
                     UniProtKB/Swiss-Prot (P85037.1); phosphorylation site"
     misc_feature    771..773
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P85037.1); phosphorylation site"
     misc_feature    783..785
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P85037.1); phosphorylation site"
     misc_feature    873..932
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="propagated from UniProtKB/Swiss-Prot (P85037.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    897..899
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P42128; propagated from
                     UniProtKB/Swiss-Prot (P85037.1); phosphorylation site"
     misc_feature    909..911
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P85037.1); phosphorylation site"
     misc_feature    1251..1322
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="propagated from UniProtKB/Swiss-Prot (P85037.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1260..1262
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P85037.1);
                     phosphorylation site"
     misc_feature    1272..1274
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P85037.1); phosphorylation site"
     misc_feature    1278..1280
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P85037.1); phosphorylation site"
     misc_feature    1296..1298
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P85037.1);
                     phosphorylation site"
     misc_feature    1320..1322
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P85037.1);
                     phosphorylation site"
     misc_feature    1335..1337
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P85037.1);
                     phosphorylation site"
     misc_feature    1347..1349
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P85037.1); phosphorylation site"
     misc_feature    1389..1391
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P85037.1); phosphorylation site"
     misc_feature    2040..2213
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="propagated from UniProtKB/Swiss-Prot (P85037.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      11169..11174
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="hexamer: AATAAA"
     polyA_site      11194
                     /gene="FOXK1"
                     /gene_synonym="FOXK1L"
                     /note="major polyA site"
ORIGIN
        1 ggagccgcgc gaacatggcc gaagtcggcg aggacagcgg cgcccgcgcc ctgctcgcgc
       61 tgcgctcggc gccctgcagc ccagtgctgt gcgccgcagc cgccgccgcc gccttccccg
      121 cggccgcacc cccgccggcc cccgcgcagc cccagcctcc gcccgggccg ccgccgccgc
      181 cgccaccgcc gctgcctccg ggcgcgatcg cgggcgcggg ctcctccggg ggctcctccg
      241 gggtatccgg ggactccgcg gtcgcgggcg cggcgccggc cctggtggcc gcggcggccg
      301 cctcggtacg gcagagcccg gggccggcgc tggcgcggct ggagggccgc gagttcgagt
      361 tcctcatgcg ccagcccagc gtcaccatcg gccgcaactc gtcgcagggc tcggtggact
      421 tgagcatggg cctgtccagc ttcatctcgc ggcgccacct gcagctcagc ttccaggagc
      481 cgcacttcta cctgcgctgc ctcggcaaga acggcgtctt cgtggacggg gccttccaga
      541 gacgcggcgc gcccgccctg cagctgccca agcagtgtac cttccggttt cccagcacgg
      601 ccatcaagat ccagttcacg tcgctctatc acaaagaaga ggccccagcc tccccgctgc
      661 ggccactgta cccccagatc tcccctctga agatccacat cccggagccg gacctccgga
      721 gcatggtcag ccccgtcccc tccccgacgg gcaccatcag tgtccccaac tcctgcccag
      781 ccagtccacg cggtgccggc tcctccagtt accgctttgt gcagaacgtg acctcggacc
      841 tgcagctggc agcagagttt gcagcaaagg ccgcgtcgga gcagcaggca gacacgtctg
      901 gaggagacag ccccaaggat gagtcaaagc cgccgttctc ctacgcgcag ctgatcgtgc
      961 aggccatctc ctccgcccag gaccggcagc tgaccctgag cgggatctac gcccacatca
     1021 ccaagcatta cccctactac cggacggccg acaaaggctg gcagaattct atccggcaca
     1081 acctctcttt gaaccgttac tttatcaaag tcccacgttc ccaggaggag cctgggaagg
     1141 ggtccttttg gcgaatagac cctgcctctg aagccaagct cgtggaacag gcattccgga
     1201 aacggaggca gaggggtgtc tcctgcttcc gcaccccctt cgggcctctg tcctcaagga
     1261 gcgctccagc ttcgcccaca caccccgggc tgatgtcccc tcgctccggc ggcctgcaga
     1321 ccccagagtg cctgtctcgg gagggctccc ccattccaca cgaccctgag tttgggtcca
     1381 agttagcttc tgtcccagag taccggtatt cccaaagcgc acccggctcc cccgtcagcg
     1441 cccagccagt gatcatggcc gtgcctcccc gaccgtccag cctcgtggcc aagcccgtgg
     1501 cctacatgcc cgcctccatc gtaacctcac agcagcccgc gggccacgcc atccacgtcg
     1561 tgcagcaggc ccccaccgtc accatggtca gggtggtcac cacatctgcc aactcggcca
     1621 acggatacat cctcaccagc cagggcgcgg cggggggctc ccatgatgcg gcgggcgcag
     1681 ccgtgctgga cctgggcagc gaggccagag gcctggagga gaaacccacc attgcgtttg
     1741 ccacaatccc cgcggctggt ggagtcatcc agacggtggc cagccagatg gcccccgggg
     1801 tccccggaca cacggtcacc atcctgcagc ccgccacacc cgtgaccctc gggcagcacc
     1861 accttccagt ccgggccgtg acccagaacg gaaagcatgc ggttcccacg aacagtttag
     1921 ccggcaacgc ttacgccctc accagccctt tgcagctcct tgcgacccaa gcgagttcat
     1981 ccgcgccggt ggtggtcacc cgggtgtgcg aggtggggcc caaggagcca gcagcagccg
     2041 tcgcggccac ggccaccacc accccagcca ctgccaccac cgcctctgcc tccgcctctt
     2101 ccactggaga gcccgaggtc aaaaggtccc gggtggagga gcccagtggt gctgtaacca
     2161 caccggctgg agtgatcgca gctgccggcc cccaggggcc aggcaccggg gagtgaggtc
     2221 acctgcaacg cgggggagtg ggactcaccc agcggcgacc ccgaagctgg acccggcagc
     2281 tcaggcggcc gcacccacag acggaggaga acagcccgcg gcggcctgtg ggcatcggcg
     2341 gcacctggac acacccagcc ctttccattt gatcgcctgc cttcccgtgg tttaagacaa
     2401 aaacacataa acaagttcag acaactgatt gtatgattct gggaattctt tgctttcctt
     2461 tccttctccc tcggcaccac ctcctctccc caggcctccc tgtcgggcat ggggaggagg
     2521 ttggagctca gcatcttgag gaatgtgtca agacagcccc tccgctccgc gctgcacggc
     2581 cagccgcctt tgtccgggag gacagacaga aacgcagcaa ggcacacacc aaggctgccg
     2641 gggaggcccg ggcaccggac agatgcctgt tgggaagcca ggagctgccg agccacggac
     2701 cacctaacag cctctccgcc cggaacgtga catagagagt gttggcatta actcgggggg
     2761 tgtccgattt cacttcagac cccaagtttt tctttgtttg tttaaacatg gaattcagac
     2821 ttcattgtac acctgagaca gacacaaaag ggatcatgta tttttgagga ttttacctgt
     2881 tgacgtctga tgaccggccg taggtccagg gttcccgctg ggtttaatcc cctcgaagag
     2941 taaacctgcc gctctgtctg ataacttcaa gtaagagcag cggcttcctg ggttggcgtt
     3001 cgcggtggaa ggttcctagg atgaaaggtg agcctggatc cgccggccgc agacatcgcg
     3061 ctgctgggga cgattggggc cgctgctctg cagaccagac cttcccgaat tatccgtggc
     3121 tccgatgtcc cggtgctgac ggccacatgg ggacctaaca gtgccaaacg ccatctgctc
     3181 cagctgcttt ttcacccagt tgcagagtcc tcaccactcc cacattgatc tgctgttttc
     3241 aattggaacc atttctcctg cctgaaactc cagggcccct ccctgggctg tccgtgagca
     3301 ggagacccca ccccagcagc agtggtgagc aggcctgtgc ctccacgccc agcccccgcc
     3361 aacgcgactg gttttgtttg ccacacggtg agaaccggag gacgggatgc tccagccagt
     3421 tgggtggttc tggggtccct gaggaagccc cctcctgcac ttccattaag acagccagtg
     3481 gttcctggat ctttgtcacc aagcagcgtt gagccagagc tgtctaatgc tgagcccagc
     3541 tcaggaagga gagaggagtc cttcagtgtg tcttggagat gcgaagtgcg tcctcgtaaa
     3601 ggtcagctgt cagttttgct ggccgctccg gcgctggctc tcctgtccgg gaccacaacg
     3661 agaaacagcg acagattcga cgcagagctc cggaagtgcc tgaggagcag tggttcttgg
     3721 aaatcgcccg tcctccgcat cacagcctct caccagcaaa gcagcctctg cccaggccct
     3781 ggcgggagag ctgcagaggg acccaggtgc ctggagggca tttgagggag gtggctggac
     3841 aggtgtctcc ctgaagaaga agggagaaca cttttcaaag tgattccgag gcagtgcggg
     3901 aggacacacg tgctgtgcag tggagtgggg tcgcccgtgg cccccatcag agtccccgtc
     3961 ccccaggaca agtgcagaac ctctgtgggc cccctccttc cacctagata gagaaaaccc
     4021 cttgttcggt ttccttcccg tgtcccgttg tttttctaag ccccccgaat tgagtcgttt
     4081 ctatggcact aacctttcca tgggaaataa gctctttgtg gaagtccgta cctgttgccc
     4141 tgggtgaggt ttcagagaaa cgggggcagg atgaacacag ccggctgtcc tgggtgcagt
     4201 tacgtccgtg gagggtgaga gattgcgccc cgttccacac ttgtgtcgcc tgctgttgtc
     4261 tgtgggcctt ttctttccgt ggtgcctggt gtgtgcgtgc atggcgtgag agaacggggg
     4321 gtgggggttg gaggtggctc cccgacaccg gtgcctgtgt ggcctgagcc ggcgccctcc
     4381 cgggagcgcc cgtcacgggg ggcctctgtg attacctgct gctgctctct cccgcgtggt
     4441 gactatatgt cctcagggct gcctgtggcc accctgatgg gagacctctg tttgcttctg
     4501 ggccactgca ggttggcctc ctcaatacaa gctgatgtct gcagggagcg ccgcgtgctg
     4561 ggattgcacc acgtgttggt cacaaatcga ggtcgccttt tggcctggtc tgctcaggct
     4621 ggccctgacc cacgtggttt cctggcttct gagacgcagc gcattcttcc tgttagcggt
     4681 agcgttctct gatttcactg cttcattgcc aagggcgtgg aaagggggtg gtggatggag
     4741 ccgggaggtg gcgagcacag gaccccgggg ctgcattctg ccgtgtgggg ttctgcactg
     4801 tctagcttct gcggggactg caaagaggga tgaagggacg tggtcctagg ggtcggctca
     4861 gactcggagc agggcaggga gaggagggca aggagaggag gcctgggtcc tggatccact
     4921 gctctgggct cataaccatg agattttgaa agagtttttg gtcatctgag caggtaccat
     4981 gcctggctca tgccggaact tgtcttggaa ccggtagcca gaggcccagg aagggacagg
     5041 gcccaaaagg gttgcatgtc ccggccacaa agccctccct gtgtgccctg agccagccca
     5101 gcaagcgcct cccagccagg cgctttcgca gaagcaagag cacaggccag ggggaccggg
     5161 agagcctcag cccccagcct gggcggcctg tgaccctgag ccgtgtggag ccaggaccca
     5221 agaaccttct ctaggttctc aagggtgagc tgacccgggc aatgtgcagg aatgtgggga
     5281 gcaaaagtag ctgattccag ccccgttctg gggtcactgg ggaggcagag gctgagggcc
     5341 tgttctctgg tcaccaggga ctgggggcac ggtccacagc ggatgagaac agcaggtcac
     5401 agtagtggct ttgggaaggg cccctcctgc tttgccctgt tcggaaaggg gctccctcag
     5461 agcccctggg cccagtaacc cgcttctgtc tcctgactcc tgctggataa attgccaggt
     5521 ttatcaaata caagaaaaca cctgctttgg ctaggaggta agtcccaaaa agaacgtctt
     5581 aagtagagca aaggcatcca ccgaggccat ttggtggccc ctgggaagtg gggaagcagg
     5641 gcctgagcgt ccccaggctg ctagggcagc agctggctca gggcacactc tctcgtgcca
     5701 gcttctgcca ccagcccagt gtccacggag ccgcggggcc agaggagctc agggagacct
     5761 ggctgtctag ggcatggtac ccagtatccc ggtgtgtgcc catcctcagc cacttgtgtc
     5821 tttctttcca tgtgggagtt ctcccggtga cacctgccct ccgttgaggg tggaatctgt
     5881 cactcatgcc tttgagggac ccagatggac catccctctt ctgcttgctt tctacattcc
     5941 taaaaacctc aacgttaatc cctcaccagt cgggccgagt gtggcctcat ggttctgccg
     6001 cggcccagtc ttctcccact ggcttcacgc tagagggcgc catgcgctct gggtgaaatg
     6061 agacgctggt gtggggtccc catgtagaga ccctcaggtc cctatccaga gaccctccag
     6121 gcagtgctgg gaagacactg gtggcgggga ccatgaccag gcgggtggag ccatgtgtgt
     6181 ctcacacctg ccgcccctca ctttccttcc cgaggtctgg taggtcctct ttgggatttg
     6241 ctgtttattt gtatctccct tttctttgat ttaagaacaa tgccaagtga aaaagctggg
     6301 aatgaatttc tgagttgctg agtgttccct gctcctaggt accacgctct gtgcttctca
     6361 ggcagggagg agatggattc ggtggagttg ggccaggacg ggggcttcac cctgccccct
     6421 ccagactgcc gaagccccca agaagttttg agcccagctg ggcctcgcct ccccggctcc
     6481 tgggtccatt ttctgtactg gtttgagatc acaggcatca ttcagcgaat gctcttgtgt
     6541 cctctgcata aagagggccc tccctggagc acccccgggg agctgggact ctccagaaag
     6601 ccccgggtga gggctccgtc ttgagagaga gagaaatccc ttctttgggc gattcagtga
     6661 gttcaggagg aggaggaagc ttttccttgg ctttgaaatc agtgttttta tggagacaaa
     6721 gaacagacct cagtgggaaa aatgaaaacg taatggaaca cggggaggtg tcggagaaga
     6781 aaggattttc cccttcgctt tcagagccgg cgggagtgca ggtctgtttt gcttcagaag
     6841 cctcacattc tgctttgccc ttgagtgact tcatgcggga tgaggaactg ttgacccctc
     6901 tagagaggac accccaagtc catcctgggc tcctcctcac ccctctgaga aagcccccct
     6961 aaaaaaaggc ttcagagtca ccggcatgcc gcctcacgtt gcaggacgga atcgcgcgct
     7021 cctcacgctg gagtaagtta cgaaacatga tcgtcaggct ctttgcaaac gcagagcccc
     7081 agaacgctgg atggaggcct cctcggccct gcgggcggcc tggctgcggt aggtctgctg
     7141 caaggagcca ccacggggac tgcgccacac tcctgatgaa aacgtgttta cccacagcct
     7201 cgcctcgagc ctccttgaca ataccgctgc ttcaaagcaa tattatttaa tgagaatact
     7261 ttacattgct cacatgtgct gctatgaaga caggattagt ctgtagacgg gactcagctc
     7321 cagaggttcc tgggtaatgt attgtggctc ttggaaatga gggtagaatt tgaaatataa
     7381 caaatggtct ctcgcccggt tctgtccctt atttttagat tgttttcctg catcttacaa
     7441 tttccttttc ttttcaaagt tcctttctcc aggcctgttt ttcagtgctc aggacacggt
     7501 tttcatcaca tacttactgt ttttttggtt gggttttgat acgaaaagct gctacgtttg
     7561 gtgaccagag ggagggtttg gaatctgtgc tttgcagggg atctcggtgg gtaccgcggc
     7621 ccctcgcagg gtggcgagtg gggtccgtgc ctcgagaagg gggcccttac ccacaccgtg
     7681 cggcttgaat tctgtcggag ttgaatctgt ggaaaggatt gtcccattag agctgctgcg
     7741 tcctttcctc tgtcctccct gtcacccaaa ccccgaagtc acagctgctt agaagaatgg
     7801 gattttgggg atacaaccac acacatttcc ctctggactg aaattttaaa aacagaccca
     7861 tttcactgac ttcttttttt tttttttttt tttttttttt ttgagacgga gtctcgctct
     7921 gtcgcccagg ctggagtgca gtggcgtgat ctcggctcac tgcaagctcc gcctcccggg
     7981 ttcacgccat tctcctgcct cagcctcccg agtagctggg actacaggcg cccgctacca
     8041 cgcccggcta attttttgta tttttagtag agacggggtt tcaccgtgtt agccaggatg
     8101 gtctcgatct cctgacctcg tgatccgccc gcctcggcct cccaaagtgc tgggattaca
     8161 ggcgtgagcc accgcgcccg gcccactgac ttctttaggg aaaatagttt cagtcttggg
     8221 ttgtcttgtg agcccacggg catgggaccc tgtctctgct gggcttttcc ggccccgtcc
     8281 cagctcctcc tcaggcagag gctgcagccc tcagctctgc tgctggatgg aacatttcaa
     8341 ccccctccgg gaaggtgggc agggtggagg gcccagggct aggcctgcca tgcaccatga
     8401 gcaggggtgc tacctgggtg tgtgaagttg ggctggcttt tcctggaggt gggtgagaag
     8461 gctctccggg caaatcagaa ggccacgaga gagagaggag cggggagagt ggtgaggagg
     8521 attcgtctct gactgatgaa cctcgccgtg cctgtctgtc acatccaagt ctgtgccagc
     8581 tgctgggagg tcagactcct gccctgagaa acagcccagt ccttggagaa tgaaaccctg
     8641 agggtcagtg agtggaggcc ttccctcggg gccagccatt cccgggaggc ctgagtgtga
     8701 cctggaagct ctgtgggtca ccaagactgg cattttcctt gtatttttgt gcagggctga
     8761 agtgagcgtt cctcctctga attggtgagg ctttggaaat tttttgtttc ttctactcat
     8821 cctaatggct ggttttggct gcccggagta tcagagaata tcactaagag ggcagtcagt
     8881 ttatttttag gcatctttct ttctgtccag ggagaaaccc ctcggaagaa tcttagtcac
     8941 tctttgcacc tgccctgtca ttctcgccat ggggaaaatg cgttgaaaag aaaaataccg
     9001 gggccaggga gaagccgtga atgtatttat ttgctttggt gaagctgctg aacactggct
     9061 gcggagggcc ccccgccccc atcccgcttc aggccccagt gacccagttg cgtcttaagt
     9121 tccatcgtcc agatttcagg ccaccagagg ctgccaaagg tgactgaagc ggtctccaag
     9181 tcactctgtc accacttttt ttttttttga gatggagtct cgctctatcg cccaggctgg
     9241 agtgcagtgg cccaatctcg gctcactgca acctccgcct cccaggttcg agcgaattct
     9301 cctgcctcaa cctcccaagt agctgggatt acaggcacct gccaccacac ccggctaatt
     9361 tttgtatttc taatagagat gagagtgtta ccatgttggt caggctggtc ttgaactcct
     9421 gacctcaggt gatctgccca cctcaacctc ccaaagtgct gggattatag gcatgagcca
     9481 ccgcgcctgg cctctgtcac tttttttgct ccttacccag tttttgtttt ttgttgtttt
     9541 gttttgtttt agcgtgatac tacaatggaa agactcctag ttggttattc tttatctcgg
     9601 attctttttt ctggaattgt ttgctcattt gagtggttgg tggtttgccc tgtgtcagac
     9661 acggtgaaaa gagtgcagga aagctggggc caggggaagc gaagtggctt caatccgggc
     9721 tgacagccaa gaagagtttt cctcccttcg gtgacagggc ctgcccctcc gagtctagag
     9781 gtaaaagcag cttctagaac tggcccctaa gtctccaaat gtgttggcta agctgaaatg
     9841 agagactctg aattagagtt tttgtttgtt tgtttgttct ctgcatgaag ttcacaggcc
     9901 tgtatggatg ttaaattgtg tctatagcct ctaaatctcc aggttaactg gtccagattt
     9961 ttttttttta atcagtaaca atgggaattt aaaatcaaat atttggccag gtgcggtggc
    10021 tcatgcccgt aatcccagca ctttgggagg ccgaggcagg cgcatcacct gaggagtttg
    10081 agaccagcct gaccaacatg gtgaaatcct gtctctacta aaaatacaaa aaattagcca
    10141 ggcgtggtgg cgtgtgcctg taatcccagc taccagggag gctgaggcat gagaatcgct
    10201 tgaacctggg agatggaggt tgcagtgagc cgagatcatg ccactgcact ccagcctggg
    10261 caacagaggg agactctgtc tcaaaaataa taatcaaatc aagtatttta agtttggctc
    10321 ttcttttttt caagaaaggc tttttggata cctagaatac cttcatgtat gtggcttgat
    10381 ttctgtttca ggaaaagggg ggcgggagga gagacaacag ccgtgttcca gagtctgtcc
    10441 tgagatgtcg ctgagtccag acacttgggc tgcacgtgcc ctgcagatga caaaggccgg
    10501 cagctcagca cacgtgcagg aggggttaaa gccaatattg agtttttgtt cttgttgttt
    10561 taatctgaac gattattctc ctgtaaaaat aatttgggag gggcgggtgt tgttcggtgt
    10621 gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gtgtattttt ttttttacag tggcgcctgt
    10681 ctaaagtatt tttcacaaca tgtttgataa tcagtgcttt aaaaagcagc agtgtcctat
    10741 gaagtggaaa tgtcagttct agagcattgg atgtgaagtt ctggtcatgt caccttgcgt
    10801 gtctcaccct ggaggagtga aggtgggcgc ccggcggggg ggtgtggctg caccccagca
    10861 ccgggagggg gcacgcacga caccagagga agggacagcc ccacccatgt caacagcagg
    10921 caacctgtgt tttcatttca agtgggatac agtatttttt taataaggag ccatactttt
    10981 ttttaagagt ttgagatctg aatgtgattt ctaattgtat cagacgttaa tgttttaaag
    11041 ctataacaaa gtttaaaatt tctacttttt gtttttcatt tattttaact gttcttttat
    11101 ctattaaatt gttgtatgtg gatggggaag ttttgtttct cctcttagca tttgtttcta
    11161 taaccagaaa taaaattcta tattaaagaa atga
//
LOCUS       NM_001037171            4318 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens acyl-CoA thioesterase 9 (ACOT9), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001037171
VERSION     NM_001037171.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4318)
  AUTHORS   Hunt MC, Yamada J, Maltais LJ, Wright MW, Podesta EJ and Alexson SE.
  TITLE     A revised nomenclature for mammalian acyl-CoA
            thioesterases/hydrolases
  JOURNAL   J Lipid Res 46 (9), 2029-2032 (2005)
   PUBMED   16103133
REFERENCE   2  (bases 1 to 4318)
  AUTHORS   Poupon V, Begue B, Gagnon J, Dautry-Varsat A, Cerf-Bensussan N and
            Benmerah A.
  TITLE     Molecular cloning and characterization of MT-ACT48, a novel
            mitochondrial acyl-CoA thioesterase
  JOURNAL   J Biol Chem 274 (27), 19188-19194 (1999)
   PUBMED   10383425
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.695133.1,
            SRR1660809.24253.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000379303.10/ ENSP00000368605.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL548456.3, BX648512.1 and
            AC093011.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001037171.1.
            Summary: The protein encoded by this gene is a mitochondrial
            acyl-CoA thioesterase of unknown function. Two transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Mar 2010].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4318
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.11"
     gene            1..4318
                     /gene="ACOT9"
                     /gene_synonym="ACATE2; CGI-16; MT-ACT48; MTACT48"
                     /note="acyl-CoA thioesterase 9"
                     /db_xref="GeneID:23597"
                     /db_xref="HGNC:HGNC:17152"
                     /db_xref="MIM:300862"
     misc_feature    85..87
                     /gene="ACOT9"
                     /gene_synonym="ACATE2; CGI-16; MT-ACT48; MTACT48"
                     /note="upstream in-frame stop codon"
     CDS             133..1479
                     /gene="ACOT9"
                     /gene_synonym="ACATE2; CGI-16; MT-ACT48; MTACT48"
                     /note="isoform a precursor is encoded by transcript variant
                     1; mitochondrial Acyl-CoA Thioesterase; acyl-Coenzyme A
                     thioesterase 2, mitochondrial; acyl-CoA thioester hydrolase
                     9"
                     /codon_start=1
                     /product="acyl-coenzyme A thioesterase 9, mitochondrial
                     isoform a precursor"
                     /protein_id="NP_001032248.1"
                     /db_xref="CCDS:CCDS43924.1"
                     /db_xref="GeneID:23597"
                     /db_xref="HGNC:HGNC:17152"
                     /db_xref="MIM:300862"
                     /translation="MRRAALRLCALGKGQLTPGRGLTQGPQNPKKQGIFHIHEACSSIH
                     VNHVRDKLREIVGASTNWRDHVKAMEERKLLHSFLAKSQDGLPPRRMKDSYIEVLLPLG
                     SEPELREKYLTVQNTVRFGRILEDLDSLGVLICYMHNKIHSAKMSPLSIVTALVDKIDM
                     CKKSLSPEQDIKFSGHVSWVGKTSMEVKMQMFQLHGDEFCPVLDATFVMVARDSENKGP
                     AFVNPLIPESPEEEELFRQGELNKGRRIAFSSTSLLKMAPSAEERTTIHEMFLSTLDPK
                     TISFRSRVLPSNAVWMENSKLKSLEICHPQERNIFNRIFGGFLMRKAYELAWATACSFG
                     GSRPFVVAVDDIMFQKPVEVGSLLFLSSQVCFTQNNYIQVRVHSEVASLQEKQHTTTNV
                     FHFTFMSEKEVPLVFPKTYGESMLYLDGQRHFNSMSGPATLRKDYLVEP"
     transit_peptide 133..195
                     /gene="ACOT9"
                     /gene_synonym="ACATE2; CGI-16; MT-ACT48; MTACT48"
     mat_peptide     196..1476
                     /gene="ACOT9"
                     /gene_synonym="ACATE2; CGI-16; MT-ACT48; MTACT48"
                     /product="acyl-coenzyme A thioesterase 9, mitochondrial
                     isoform a"
     regulatory      1677..1682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACOT9"
                     /gene_synonym="ACATE2; CGI-16; MT-ACT48; MTACT48"
                     /note="hexamer: AATAAA"
     polyA_site      1696
                     /gene="ACOT9"
                     /gene_synonym="ACATE2; CGI-16; MT-ACT48; MTACT48"
                     /note="major polyA site"
     regulatory      4294..4299
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACOT9"
                     /gene_synonym="ACATE2; CGI-16; MT-ACT48; MTACT48"
                     /note="hexamer: AGTAAA"
     polyA_site      4318
                     /gene="ACOT9"
                     /gene_synonym="ACATE2; CGI-16; MT-ACT48; MTACT48"
ORIGIN
        1 gctgtccggc tcccgggctg tcctcagcaa gggcgcggtc tggtactcgt gcgtctttta
       61 tcgcctcagt ttccctccgc cgactagcgc gcggggcccg gttctccatc gcgcgcacgg
      121 cagcctagcg caatgaggcg ggcagcactg cggctttgtg ccttgggcaa agggcagctt
      181 actcctggaa gaggactgac tcaaggaccc cagaacccca agaaacaggg aatcttccac
      241 attcatgaag catgttcatc tatacatgtg aatcatgttc gagataagtt gcgggagata
      301 gtaggagcat ccacaaactg gagagaccat gtgaaggcaa tggaagaaag gaaattactt
      361 catagtttct tggctaaatc acaggatgga ctgcctccta ggagaatgaa ggacagttat
      421 attgaagttc tcttgccttt gggcagtgag cctgaattac gagagaaata tttgactgtt
      481 caaaacaccg taagatttgg caggattctt gaggatcttg acagcttggg agttcttatt
      541 tgttacatgc acaacaaaat ccactccgcc aagatgtctc ctttatcgat agttacagcc
      601 ctggtggata agattgatat gtgtaagaag agcttgagcc cagaacagga cattaagttc
      661 agtggccatg ttagctgggt cgggaagaca tccatggaag tgaagatgca aatgttccag
      721 ttacatggtg atgaattttg tcctgttttg gatgcaacat ttgtaatggt ggctcgtgat
      781 tctgaaaata aagggccggc atttgtaaat ccactcatcc ctgaaagccc agaggaagag
      841 gagctcttta gacaagggga attgaacaag gggagaagaa ttgccttcag ctccacgtcg
      901 ttactgaaaa tggcccccag cgctgaggag aggaccacca tacatgagat gtttctcagc
      961 acactggatc caaagactat aagttttcgg agtcgagttt taccctctaa tgcagtgtgg
     1021 atggagaatt caaaactgaa gagtttggaa atttgccacc ctcaggagcg gaacattttc
     1081 aatcggatct ttggtggttt ccttatgagg aaggcatatg aacttgcgtg ggctactgct
     1141 tgtagctttg gtggttctcg accgtttgtg gtagcagtag atgacatcat gtttcagaaa
     1201 cctgttgagg ttggctcatt gctctttctt tcttcacagg tatgctttac tcagaataat
     1261 tatattcaag tcagagtaca cagtgaagtg gcctccctgc aggagaagca gcatacaacc
     1321 accaatgtct ttcatttcac gttcatgtcg gaaaaagaag tgccattggt tttcccaaaa
     1381 acatatggag agtccatgtt gtacttagat gggcagcggc atttcaactc catgagtggc
     1441 ccagcgacct tgagaaagga ctaccttgtg gagccctaag aacaccacat ttgttgaaaa
     1501 ctagcactct acccacagtg acgtggtatc tgatgaagac ctgatcgagt gtattgattt
     1561 tagtattgct tcgtgtcctc cacacaggag gaggatgtat tcagccttta ggatgatcag
     1621 aaaagcagaa agagagagtg gccggatggg gctgagggga gaaagaatta ttaaacaata
     1681 aatactttca agacaatttt aattgtgaac ctaccatgtt gcctcccatc ttctgaaaaa
     1741 acaaaaaaat tgagaggctg ggcgtggtgg ctcatgccta taatcccagc actttgggag
     1801 gctgaggcgg gcggatcatg aagtcaggag atcaagacca tcctggccaa catggtgaaa
     1861 ccctgtctct actaaaaata cagaaaatta gccgtggtgg catgtgcctg tagtcccagc
     1921 tacttgggag gctgaggcag gagaattgct tgaacccagg aggtggaggt tgcagtgagc
     1981 tgagattgca ccattgcact ccagcctggg cgacagagag agactgtctc aaaaattaat
     2041 taattaatta attaattgag gataccattg gatgcattct tttcttacac atattgcaac
     2101 tgtcagtata caaggtttcc tgccagggta tttggatgac gttctttaaa cctaaccact
     2161 tgctctgtgc tgtctaaatc ccatcagccg tacatgattc ctttgcttcc ctctatttcc
     2221 cagcttttgt tgtcagaggg tagatgaaaa gttggggcga agggatttaa caaaagttac
     2281 tgcatccgta aagatttgtg ggaagattta ggtctgaaac cataccatta gaaggtgttt
     2341 agagatgatc tagataagga aatacaggac catttggtca ttctttcatt caccagacag
     2401 ctatttagca cattctgcta gtggctccgc aggatatatc tgatttaaaa aataggaacc
     2461 acaataataa tagctgctta tgcttatgga gcattgccat gtgctagata ggcaccatcc
     2521 tcagcccttg gcaggtctga gctcctttat ttcttccaat caacactatg aggcaggttc
     2581 tgtaaccccc cttagggtta ggccactcgg gaaactgaag cacagagagt ttaagtaact
     2641 tcctggaggt ccgacgcgta acatgtggag gtgctgggat tcaaaaccag gcaatgtggg
     2701 tcccgggcac tcttgaccag tgcctgtact tcttccaagg aatagagcaa gggaggtcat
     2761 accgaatatc acagtgtcac ctaggaagcc caagggaggt attcccgtta atctgcagcc
     2821 aaggccgggc gcggtagctc atgcctgtaa tcccagcact ttgggaggcc aaggcggatg
     2881 gatcatgagg tcaggagttc aagaccagcc tggccgagat ggtgaaaccc cgtttctact
     2941 aaaaatacaa aaattagccg ggcgtggtgg cggacgcctg taatcccagc tactcgggag
     3001 gctgaggcag agaactgctt gaacctggga ggcagaggtt gcagtgagct gtgatcatgc
     3061 cactgcactc cagcctgggt gacagaacga gactccatct caaaaaaaaa aaaaaaaaaa
     3121 aatctgtagc caagaccgtt ccttttttga caggaaggta acttagaaga aaaaataatc
     3181 tctgaaaaaa gtcctcccaa gaaggaagca atatttattg tgggttctac attagtgttc
     3241 acaaacttgg ctctgcctca gaattaggtg gaaagtattt ttgtgtgtgt gtgtgtgtgt
     3301 gagacagagt ttcactctgt cgctccagct ggagtgcagt ggcatgatct tggctcactg
     3361 caacctctac ctcccgggtt caagcgattc tcctgcctca gcctcctgag tagctaggat
     3421 tacaggtgtc agcccccatg cctggctagt ttttgtattt ttagtagaaa ggcggtttca
     3481 ccatgttggc cagctggtct caaattcctg acctcaggtg atccacctac cttggcctcc
     3541 caaagtgctg ggattatagg catgagccac tgcacccggc cggtggaaag catttttaac
     3601 aaaaaatttt taggccaggc acagtggtgg ctcatgcctg taatcccagc actttgggag
     3661 actgagatgg gaggatcgct tgagaccagc ctgggaaaca tagtgagacc ctttctctac
     3721 aaaaagttaa aaaattatct gagcatggtg gtgtgcacct gtagtcccag ttaggaggct
     3781 gaggtgagtg gattgcttga gtccaggagt ttgagtctgc agtgagctat gatcatgcca
     3841 ctgcactcca gtctgggtga cagcaagacc ctgtctcaag caattttttt atattagttt
     3901 atgtaatgtt tattgaaatc acagtgtcaa caagcacctc tggcatgaaa tagtcacagg
     3961 agcgaacaca actatctctt ggaagcatgc agtttgactc atggaatcaa gcatgtgctg
     4021 tactataata acttgtctct ccatgccgta atgccatcct gactgagatt tacctggccc
     4081 ttcaatatag cattttgcat atctacctat gacatgatgg gaggtggcta atggggaggg
     4141 atgcgccctg gggagttttg tgaatgtgtt aagtggagtt aagagaccta ctgcatgcta
     4201 ttgtatagat tatacattat atatttaacc atttgttgct gtacagtgaa gctttttcta
     4261 gtatttcttt tttgctatta taaacaatgt tgcagtaaat atcctaaata ctctaaaa
//
LOCUS       NM_001037172            3302 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens 2-phosphoxylose phosphatase 1 (PXYLP1), transcript
            variant 2, mRNA.
ACCESSION   NM_001037172
VERSION     NM_001037172.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3302)
  AUTHORS   Koike T, Izumikawa T, Sato B and Kitagawa H.
  TITLE     Identification of phosphatase that dephosphorylates xylose in the
            glycosaminoglycan-protein linkage region of proteoglycans
  JOURNAL   J Biol Chem 289 (10), 6695-6708 (2014)
   PUBMED   24425863
  REMARK    GeneRIF: this study describes the cloning of a human cDNA encoding a
            novel protein designated 2-phosphoxylose phosphatase capable of
            dephosphorylating this Xyl residue.
REFERENCE   2  (bases 1 to 3302)
  AUTHORS   Need AC, Attix DK, McEvoy JM, Cirulli ET, Linney KL, Hunt P, Ge D,
            Heinzen EL, Maia JM, Shianna KV, Weale ME, Cherkas LF, Clement G,
            Spector TD, Gibson G and Goldstein DB.
  TITLE     A genome-wide study of common SNPs and CNVs in cognitive performance
            in the CANTAB
  JOURNAL   Hum Mol Genet 18 (23), 4650-4661 (2009)
   PUBMED   19734545
REFERENCE   3  (bases 1 to 3302)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.37693.1,
            SRR1803612.102380.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000286353.9/ ENSP00000286353.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CX762355.1, DC409719.1, AK074331.1, AL137529.1, BX647621.1 and
            AC117383.4.
            On Nov 24, 2018 this sequence version replaced NM_001037172.2.
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Both variants 1 and 2 encode the same
            isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3302
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q23"
     gene            1..3302
                     /gene="PXYLP1"
                     /gene_synonym="ACPL2; HEL124; XYLP"
                     /note="2-phosphoxylose phosphatase 1"
                     /db_xref="GeneID:92370"
                     /db_xref="HGNC:HGNC:26303"
                     /db_xref="MIM:619732"
     misc_feature    108..110
                     /gene="PXYLP1"
                     /gene_synonym="ACPL2; HEL124; XYLP"
                     /note="upstream in-frame stop codon"
     CDS             141..1583
                     /gene="PXYLP1"
                     /gene_synonym="ACPL2; HEL124; XYLP"
                     /EC_number="3.1.3.2"
                     /note="isoform 1 is encoded by transcript variant 2; acid
                     phosphatase-like protein 2; epididymis luminal protein 124;
                     xylosyl phosphatase; acid phosphatase-like 2"
                     /codon_start=1
                     /product="2-phosphoxylose phosphatase 1 isoform 1"
                     /protein_id="NP_001032249.1"
                     /db_xref="CCDS:CCDS3116.1"
                     /db_xref="GeneID:92370"
                     /db_xref="HGNC:HGNC:26303"
                     /db_xref="MIM:619732"
                     /translation="MLFRNRFLLLLALAALLAFVSLSLQFFHLIPVSTPKNGMSSKSRK
                     RIMPDPVTEPPVTDPVYEALLYCNIPSVAERSMEGHAPHHFKLVSVHVFIRHGDRYPLY
                     VIPKTKRPEIDCTLVANRKPYHPKLEAFISHMSKGSGASFESPLNSLPLYPNHPLCEMG
                     ELTQTGVVQHLQNGQLLRDIYLKKHKLLPNDWSADQLYLETTGKSRTLQSGLALLYGFL
                     PDFDWKKIYFRHQPSALFCSGSCYCPVRNQYLEKEQRRQYLLRLKNSQLEKTYGEMAKI
                     VDVPTKQLRAANPIDSMLCHFCHNVSFPCTRNGCVDMEHFKVIKTHQIEDERERREKKL
                     YFGYSLLGAHPILNQTIGRMQRATEGRKEELFALYSAHDVTLSPVLSALGLSEARFPRF
                     AARLIFELWQDREKPSEHSVRILYNGVDVTFHTSFCQDHHKRSPKPMCPLENLVRFVKR
                     DMFVALGGSGTNYYDACHREGF"
     misc_feature    159..221
                     /gene="PXYLP1"
                     /gene_synonym="ACPL2; HEL124; XYLP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TE99.1);
                     transmembrane region"
     misc_feature    1053..1055
                     /gene="PXYLP1"
                     /gene_synonym="ACPL2; HEL124; XYLP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8TE99.1); glycosylation site"
     misc_feature    1200..1202
                     /gene="PXYLP1"
                     /gene_synonym="ACPL2; HEL124; XYLP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated
                     from UniProtKB/Swiss-Prot (Q8TE99.1); glycosylation site"
     regulatory      2671..2676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PXYLP1"
                     /gene_synonym="ACPL2; HEL124; XYLP"
                     /note="hexamer: AATAAA"
     polyA_site      2701
                     /gene="PXYLP1"
                     /gene_synonym="ACPL2; HEL124; XYLP"
                     /note="major polyA site"
     regulatory      2993..2998
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PXYLP1"
                     /gene_synonym="ACPL2; HEL124; XYLP"
                     /note="hexamer: AATAAA"
     polyA_site      3011
                     /gene="PXYLP1"
                     /gene_synonym="ACPL2; HEL124; XYLP"
                     /note="major polyA site"
     regulatory      3267..3272
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PXYLP1"
                     /gene_synonym="ACPL2; HEL124; XYLP"
                     /note="hexamer: AATAAA"
     polyA_site      3302
                     /gene="PXYLP1"
                     /gene_synonym="ACPL2; HEL124; XYLP"
ORIGIN
        1 gcctcccctc gcgccgggag gagctggcgg cgagcgccga gccgggcgcg cagcgacgga
       61 gctggggccg gcctgggacc atgggcggac atgttcccga tttgaggtga aaccatgaag
      121 agaaaataga atacttaata atgcttttcc gcaaccgctt cttgctgctg ctggccctgg
      181 ctgcgctgct ggcctttgtg agcctcagcc tgcagttctt ccacctgatc ccggtgtcga
      241 ctcctaagaa tggaatgagt agcaagagtc gaaagagaat catgcccgac cctgtgacgg
      301 agccccctgt gacagacccc gtttatgaag ctcttttgta ctgcaacatc cccagcgtgg
      361 ccgagcgcag catggaaggt catgccccgc atcattttaa gctggtctca gtgcatgtgt
      421 tcattcgcca cggagacagg tacccactgt atgtcattcc caaaacaaag cgaccagaaa
      481 ttgactgcac tctggtggct aacaggaaac cgtatcaccc aaaactggaa gctttcatta
      541 gtcacatgtc aaaaggatcc ggagcctctt tcgaaagccc cttgaactcc ttgcctcttt
      601 acccaaatca cccattgtgt gagatgggag agctcacaca gacaggagtt gtgcagcatt
      661 tgcagaacgg tcagctgctg agggatatct atctaaagaa acacaaactc ctgcccaatg
      721 attggtctgc agaccagctc tatttagaga ccactgggaa aagccggacc ctacaaagtg
      781 ggctggcctt gctttatggc tttctcccag attttgactg gaagaagatt tatttcaggc
      841 accagccaag tgcgctgttc tgctctggaa gctgctattg cccggtaaga aaccagtatc
      901 tggaaaagga gcagcgtcgt cagtacctcc tacgtttgaa aaacagccag ctggagaaga
      961 cctacgggga gatggccaag atcgtggatg tccccaccaa gcagcttaga gctgccaacc
     1021 ccatagactc catgctctgc cacttctgcc acaatgtcag ctttccctgt accagaaatg
     1081 gctgtgttga catggagcac ttcaaggtaa ttaagaccca tcagatcgag gatgaaaggg
     1141 aaagacggga gaagaaattg tacttcgggt attctctcct gggtgcccac cccatcctga
     1201 accaaaccat cggccggatg cagcgtgcca ccgagggcag gaaagaagag ctctttgccc
     1261 tctactctgc tcatgatgtc actctgtcac cagttctcag tgccttgggc ctttcagaag
     1321 ccaggttccc aaggtttgca gccaggttga tctttgagct ttggcaagac agagaaaagc
     1381 ccagtgaaca ttccgtccgg attctttaca atggcgtcga tgtcacattc cacacctctt
     1441 tctgccaaga ccaccacaag cgttctccca agcccatgtg cccgcttgaa aacttggtcc
     1501 gctttgtgaa aagggacatg tttgtagccc tgggtggcag tggtacaaat tattatgatg
     1561 catgtcacag ggaaggattc taaaaggtat gcagtacagc agtatagaat ccatgccaat
     1621 acagagcata gggaaaggtc cacttctagt tttgtctgtt actaagggta gaagattatt
     1681 gctttttaaa ggctaaatat tgtttgtggg aaccacagat ggttggggtt gaacagtaag
     1741 cacattgctg caatgtggta cgtgaattgc ttggtacaaa atggccagtt cacagaggaa
     1801 tagaaggtac tttatcatag ccagacttcg cttagaatgc cagaataata tagttcaaga
     1861 cctgaagttg ccaatccaag tttgcactct tctggcctgc cccatgttac tatgtgatgg
     1921 aaccagcaca cctcaaccaa aattttttta atcttagaca tttttacctt gtccttgtta
     1981 agaatttctt gaagtgattt atctaaaata aaggttggca aactttttct gtaaagggcc
     2041 agattgtaaa tatttcagac tgtgtggacc aaaaggccac atacagtctc tgtcataact
     2101 actcaactct gtttctgaag caggaaagcc accacagaca gtacataaag gaatatgtgt
     2161 agctgggttc ccaggccgga caaaacagat ggtgaccaga tttggcccct gggctgtagt
     2221 ttgctgaccc ctcatctaaa aaataggcta tactacaatt gcacttccag cactttgaga
     2281 acgagttgaa taccaagaat tattcaatgg ttcctccagt aacttctgct agaaacacag
     2341 aatttggtct gtatctgaca ctagaacaaa acttgagggt aaataaacat tgaattagaa
     2401 tgaatcatag aaaactgatt agaagaatac ttgatgttta tgatgattgt ggtacaagat
     2461 agttttaagt atgttctaaa tatttgtctg ctgtagtcta tttgctgtat atgctgaaat
     2521 ttttgtatgc catttagtat ttttatagtt taggaaaata ttttctaaga ccagttttag
     2581 atgactctta ttcctgtagt aatattcaat ttgctgtacc tgcttggtgg ttagaaggag
     2641 gctagaagat gaattcaggc actttcttcc aataaaacta attatggctc attccctttg
     2701 acaagctgta gaactggatt catttttaaa ccattttcat cagtttcaaa tggtaaattc
     2761 tgattgattt ttaaatgcgt ttttggaaga actttgctat tagatagttt acagatcttt
     2821 ataaggtgtt ttatatatta gaagcaatta taattacatc tgtgatttct gaactaatgg
     2881 tgctaattca gagaaatgga aagtgaaagt gagattctct gttgtcatcg gcattccaac
     2941 tttttctctt tgtttttgtc cagtgttgca tttgaatatg tctgtttcta taaataaatt
     3001 ttttaagaat acctatacta tacaactaat ggtttgtacc tataagtcac tcgagttatt
     3061 ttcaagtgag agccagtatt ttatttttcc cccttcattc aaatgtcatg cagagaacca
     3121 gtattttaaa attttatttt aactgcttta ctaactgctg aaagttgtgt tatctctcaa
     3181 gtattcaaag actaaatgtg ttttctttcc ttcccactca caatatatct gaattagaac
     3241 tgctaaacac agcttgaaga cttaaaaata aaagtgactc ggaagatttt ttaaaaaatc
     3301 aa
//
LOCUS       NM_001037225            1292 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens membrane anchored junction protein (MAJIN), transcript
            variant 1, mRNA.
ACCESSION   NM_001037225
VERSION     NM_001037225.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1292)
  AUTHORS   Wang Y, Chen Y, Chen J, Wang L, Nie L, Long J, Chang H, Wu J, Huang
            C and Lei M.
  TITLE     The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the
            nuclear envelope
  JOURNAL   Nat Commun 10 (1), 564 (2019)
   PUBMED   30718482
  REMARK    GeneRIF: The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to
            the nuclear envelope Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1292)
  AUTHORS   Dunce JM, Milburn AE, Gurusaran M, da Cruz I, Sen LT, Benavente R
            and Davies OR.
  TITLE     Structural basis of meiotic telomere attachment to the nuclear
            envelope by MAJIN-TERB2-TERB1
  JOURNAL   Nat Commun 9 (1), 5355 (2018)
   PUBMED   30559341
  REMARK    GeneRIF: complementary structured illumination microscopy studies
            and biochemical findings reveal a telomere attachment mechanism in
            which MAJIN-TERB2-TERB1 recruits telomere-bound TRF1, which is then
            displaced during pachytene, allowing MAJIN-TERB2-TERB1 to bind
            telomeric DNA and form a mature attachment plate. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 1292)
  AUTHORS   Shibuya H, Hernandez-Hernandez A, Morimoto A, Negishi L, Hoog C and
            Watanabe Y.
  TITLE     MAJIN Links Telomeric DNA to the Nuclear Membrane by Exchanging
            Telomere Cap
  JOURNAL   Cell 163 (5), 1252-1266 (2015)
   PUBMED   26548954
  REMARK    Erratum:[Cell. 2018 May 3;173(4):1058. PMID: 29727665]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.108708.1, BC106951.2
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148874
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000301896.6/ ENSP00000301896.5
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000436.5, DB445650.2, HY050994.1, BC106951.2 and BC033501.1.
            On Nov 22, 2018 this sequence version replaced NM_001037225.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1292
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..1292
                     /gene="MAJIN"
                     /gene_synonym="C11orf85"
                     /note="membrane anchored junction protein"
                     /db_xref="GeneID:283129"
                     /db_xref="HGNC:HGNC:27441"
                     /db_xref="MIM:617130"
     misc_feature    273..275
                     /gene="MAJIN"
                     /gene_synonym="C11orf85"
                     /note="upstream in-frame stop codon"
     CDS             297..947
                     /gene="MAJIN"
                     /gene_synonym="C11orf85"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="membrane-anchored junction protein isoform 1"
                     /protein_id="NP_001032302.1"
                     /db_xref="CCDS:CCDS31603.1"
                     /db_xref="GeneID:283129"
                     /db_xref="HGNC:HGNC:27441"
                     /db_xref="MIM:617130"
                     /translation="MSLKPFTYPFPETRFLHAGPNVYKFKIRYGKSIRGEEIENKEVIT
                     QELEDSVRVVLGNLDNLQPFATEHFIVFPYKSKWERVSHLKFKHGEIILIPYPFVFTLY
                     VEMKWFHENLSPGKPISDSPLGLVPVEKKAVGAVMRKRKHMDEPSSPSRPGLDRIGKEK
                     PNKDCRRLWPLISLMSRNKILSGDTACQGELSHPCSTTHLHLRSEQPPASLGF"
     regulatory      1270..1275
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAJIN"
                     /gene_synonym="C11orf85"
                     /note="hexamer: AATAAA"
     polyA_site      1292
                     /gene="MAJIN"
                     /gene_synonym="C11orf85"
                     /note="major polyA site"
ORIGIN
        1 gcacttgcgc gtgcgcagaa ggcctggtgg gtgcgcggca cgagccccga agttgcttag
       61 gagctggcga gccagtccct caaaacgact tcgttcgagg ttggcgcccg cctttttcag
      121 agagcacttc ttagtgggta ttccgtccgg ggccactttt ctgaggccga aggaccccta
      181 gtcagtgtgt gagacatagc ctggccgagc ctgggaacca cctggggctg agagacgacc
      241 ttaagtggac agagattcta gaacaggaga aataaaacag ctatcgtttg ggagcaatga
      301 gtttaaaacc ctttacctac ccgtttccag agacgaggtt tcttcatgca ggacccaatg
      361 tgtataaatt caaaatcaga tatgggaaga gtatcagagg agaagagata gaaaataagg
      421 aagtcatcac ccaggagctg gaggattctg tccgcgtggt cttgggaaac ttggacaatc
      481 ttcagccctt tgctacagaa cacttcattg tatttcccta taaaagcaaa tgggagagag
      541 tttcccacct gaaattcaaa catggggaaa ttatcttgat cccctaccca tttgttttta
      601 ctctatatgt ggagatgaaa tggttccatg aaaacctgtc acctgggaaa ccaataagtg
      661 acagtcctct tgggttggtc ccagttgaga agaaagcagt aggagctgtg atgaggaaac
      721 gaaaacacat ggacgagccc agctccccca gcaggccagg gctggacaga atagggaaag
      781 aaaaacccaa caaggattgc aggagactct ggcctctgat atcactgatg tccagaaaca
      841 agattctgag tggggacaca gcctgccagg gcgaattgtc ccacccctgc agcacaactc
      901 acctccacct aaggagcgag cagccaccgg cttctttggg tttctaagct ctctcttccc
      961 gtttcgatat ttcttcagga agagcagcca ctcttgagcc ttccaaatgc agcgctggaa
     1021 agaggatcat ctcttgtagt gactcctccc gagccattct tcctccaact ctatcctttt
     1081 cttatgacac ttcagtcgtg gggaatgagg tccccatgct gagtcctctg tggttttatc
     1141 gtgtcctttg cccctttata atagattttt tcccccaatt taaaacatta agaatggaac
     1201 tttctaaaat gttcatgtcc tgagggccgg tttaggcctt ttgtcttcgg cacttaggat
     1261 cctaatgaca ataaattatt tatgaagagt ta
//
LOCUS       NM_001037232            5032 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 829 (ZNF829), transcript variant 2,
            mRNA.
ACCESSION   NM_001037232
VERSION     NM_001037232.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5032)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (bases 1 to 5032)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz
            TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha
            SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA,
            McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley
            KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM,
            Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan
            A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko
            Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC,
            Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS,
            Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones
            SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.644108.1,
            SRR18074968.3906012.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03267750
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000391711.8/ ENSP00000429266.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB031896.1, BC107132.1, AC008733.9 and BX538288.1.
            On May 20, 2020 this sequence version replaced NM_001037232.3.
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and uses a downstream start codon,
            compared to variant 1. The encoded isoform (2) is shorter at the
            N-terminus, compared to isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5032
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..5032
                     /gene="ZNF829"
                     /note="zinc finger protein 829"
                     /db_xref="GeneID:374899"
                     /db_xref="HGNC:HGNC:34032"
     misc_feature    270..272
                     /gene="ZNF829"
                     /note="upstream in-frame stop codon"
     CDS             366..1664
                     /gene="ZNF829"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="zinc finger protein 829 isoform 2"
                     /protein_id="NP_001032309.2"
                     /db_xref="CCDS:CCDS42557.1"
                     /db_xref="GeneID:374899"
                     /db_xref="HGNC:HGNC:34032"
                     /translation="MPHSPLISIPHVWCHPEEEERMHDELLQAVSKGPVMFRDVSIDFS
                     QEEWECLDADQMNLYKEVMLENFSNLVSVGLSNSKPAVISLLEQGKEPWMVDRELTRGL
                     CSDLESMCETKILSLKKRHFSQVIITREDMSTFIQPTFLIPPQKTMSEEKPWECKICGK
                     TFNQNSQFIQHQRIHFGEKHYESKEYGKSFSRGSLVTRHQRIHTGKKPYECKECGKAFS
                     CSSYFSQHQRIHTGEKPYECKECGKAFKYCSNLNDHQRIHTGEKPYECKVCGKAFTKSS
                     QLFLHLRIHTGEKPYECKECGKAFTQHSRLIQHQRMHTGEKPYECKQCGKAFNSASTLT
                     NHHRIHAGEKLYECEECRKAFIQSSELIQHQRIHTDEKPYECNECGKAFNKGSNLTRHQ
                     RIHTGEKPYDCKECGKAFGSRSDLIRHEGIHTG"
     regulatory      5008..5013
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF829"
                     /note="hexamer: TATAAA"
     polyA_site      5032
                     /gene="ZNF829"
                     /note="major polyA site"
ORIGIN
        1 agaacacatc tgctttcctg tgtgagggtg aggcttgggc cgggttcccc gggaggctca
       61 tctccattgc gcagcgctac ggcgacccgc aactccgagg ctcggctgga tgttgagagt
      121 tgagggagca gccgtttcgg gtgggcccag gcgaggagct gacaggaatc ggcgtgggtc
      181 ccgctctgga ctacatttcc cagagggcct ggtggcctgc cacttttctc gcaggaattc
      241 gaacgtttcg tcactcctgg cgggaccctt agatctggga ggaaacctct ctgaggtctg
      301 gtcagattcc aaccctggac agcagtgaac acaacctttc ccctgagcca ctggaattgg
      361 acagaatgcc ccattctcct ctgatctcca ttcctcatgt gtggtgtcac ccagaagagg
      421 aggaaagaat gcatgatgaa cttctacaag cagtatccaa ggggccggtg atgttcaggg
      481 atgtttccat agacttctct caagaggaat gggaatgcct ggacgctgat cagatgaatt
      541 tatacaaaga agtgatgttg gagaatttca gcaacctggt ttcagtggga ctttccaatt
      601 ctaagccagc tgtgatctcc ttattggaac aaggaaaaga gccctggatg gttgatagag
      661 agctgactag aggcctgtgt tcagatctgg aatcaatgtg tgagaccaaa atattatctc
      721 taaagaagag acatttcagt caagtaataa ttacccgtga agacatgtct acttttattc
      781 agcccacatt tcttattcca cctcaaaaaa ctatgagtga agagaaacca tgggaatgta
      841 agatatgtgg aaagaccttt aatcaaaact cacaatttat ccaacatcag agaattcatt
      901 ttggtgaaaa acactatgaa tctaaggagt atgggaagtc ctttagtcgt ggctcactcg
      961 ttactcgaca tcagaggatt cacactggta aaaaacccta tgaatgtaag gaatgtggca
     1021 aggcttttag ttgtagttca tatttttctc aacatcagag gattcacact ggtgagaaac
     1081 cctatgaatg taaggaatgt ggaaaagcct ttaagtattg ctcaaacctt aatgatcatc
     1141 agagaattca cactggtgag aaaccctatg aatgtaaagt atgtggaaaa gcctttacta
     1201 aaagttcaca actttttcta catctgagaa ttcatactgg tgagaaacct tatgaatgta
     1261 aagaatgtgg gaaagccttt actcaacact caaggcttat tcagcatcag agaatgcata
     1321 ctggtgagaa accttatgaa tgtaagcagt gtgggaaggc ctttaatagt gcctcaacac
     1381 ttactaacca tcacagaatt catgctggtg agaagctcta tgaatgtgaa gaatgtagaa
     1441 aggcctttat tcagagctca gaacttattc aacatcagag aatccataca gatgaaaaac
     1501 catatgaatg taatgaatgt gggaaggcct ttaataaagg ctcaaatctt actcgacatc
     1561 agagaattca cactggtgag aaaccctatg actgtaagga atgtggaaag gcttttggta
     1621 gtcgctctga cctcattcgc catgagggaa ttcatactgg ttgaatgaca gtaaagtaag
     1681 accattttgt taacctttat aataattttt ttaaaacagg taaggagaac aaattaggat
     1741 acatattatc aaaggttctc ctatgtattc gtttttaaac gatacgataa caaagtacca
     1801 agtaccaaaa ccttggtggc ttaaaacaag agaaatttat tctctcatag tttagagcct
     1861 ggaaatctaa actcaagggt gctgatcgtt ttggttcctt ctgaggactc tgaggatctg
     1921 ttctatgcct ttttcctaac ctctgttaac agctggcagt ccttggcatt ccatggcttt
     1981 tacatacacc attccaatct ctgcctccat cttcacattg cattctcgct gtgtatctct
     2041 gtgtatgtct tttatttgga caccagtcag gttagattgg ggttacctgg tgacctcatc
     2101 ttaacttgat tatatctgcc aagaccctgt ttccaagtaa ggtcacattt accggtacca
     2161 ggggttagga cttcagcata tctttttagg ggatacagtt caacccataa taccctgtta
     2221 gaatgatttt gtctaatata tttgtaattt ccttttatac ataagttgtt agtcaaattt
     2281 attttatttt attttatttt gagacagagt ctcgctctgt tgcccaggct ggagtgcagt
     2341 ggtgtgatct cagctcactg caacctccag ctcctgagtt caagcgattc ttgtgcctca
     2401 gcctctcaag tagttgggat tacaggcatg cgccaccatg cccggctaat tttttttttt
     2461 tttttttttg tatttttagt agcgacgggg tttcaccatg ttggccaggc tggtcttgaa
     2521 ctcctgactt caagtgatct gcccgcctca gcctcccaaa gtgctgggat tacagacgtg
     2581 agccaccgtg atggccaaaa cagactttat accaacaaaa attaaaaagg acaaagaagg
     2641 tcatttataa tgataaagga taaattcaac aagaagataa aacaatccta aatatgtatg
     2701 cacccaacac tgcaacaccc agatccataa cacagatact actagaccta agaaaagaga
     2761 tagacagcaa tacaacaata gcaggggact tcaccactcc attgacagca ctagacagat
     2821 cactgggaca gaaatcaaca aagaaactct ggacttaaat tggactctac accaaatgga
     2881 cccaacagac atctgaagaa cattctaccc aacaaccaca gaatatatac tcttctcttc
     2941 tgtgcatgga acattctcaa aaataggtca tatactggac cacaaagcaa gtatcaataa
     3001 attttaaaaa aacaaaatca tatctaacat cttctctgac catagtggaa taaaactaga
     3061 tatcaatacc aagaggaact ctcaaaacag atacatggaa tttaaacagc ttgctcctga
     3121 atgatttttg gatcaatgat gaaactaagg tggaaattta aaattttttg aaataaatga
     3181 aaatagagac aaaacacatg aaaacatctg agatacagca aaagcagtgc taagagagga
     3241 ttttatagca ttaaatgcct acaccaaaaa gatagaaaaa tctcaaatga atagcctaac
     3301 gtcacatctc aaggaactag gaaaaaacaa aacaaactca acccaaagct ggcagaagaa
     3361 aagcaataac aaatatcaga gcaggcaaaa atgagactga gaacaaagga atgcaaaaga
     3421 tcaataaaag aaaaagttgg ttctttgcaa agataaaact gacagaccac tagctagatt
     3481 aaccaagaaa aaaagaagat tcaaataaat acaatcagaa atgataaggt gatattataa
     3541 ctgataacac agacatataa aatatcagca gaaactatat gcacatatta gaaaacctag
     3601 aggaagtgga taaattccta gaaacacata accttccaag attgaaccag ggagaaatag
     3661 gaatcctcaa cagactactg agtattgaaa ttgaatcagt aatagaaaaa aatcttgcaa
     3721 aaacaaaaag cccaggacca gacagattca cagctgaatt ctactagaca tgcaaggaag
     3781 aactagtaac agcactattg aaactattcc aaaaattata ggagggaatc ctccctaact
     3841 cattctacaa agccagtatc atcctgatac tgaagccagg caaggataaa acacacaaaa
     3901 aaactacaag ccaatatccc tgatgaaaat agacacaaaa atcttcagca aaatactagc
     3961 aaaccaaatc aaacagtaca taaaaaagat agtaacagca cagtcaagtg gattttattc
     4021 ctggggtgta aggatggctc aacatatgca actcaataca tgattcatca catacacaga
     4081 attaaaaata agccaggcac tcacacctgt aatcccagca ctttgcaagg ccaaggcggg
     4141 cagatcacat gatgtcaaga gtttgagacc agtctggctg acatggcgaa accctgtctc
     4201 tactaaaaat agaaaaattg gctgggcatg gtggcaggca ctgtagtccc agctacttgg
     4261 gaggctgagg caggagaatt acttgaacct gagaagcgga ggttgcagtg agctgagata
     4321 gtgccattgc actccagcct gggcaacaga gcaaattgct tgaatgtggg aggtggaggt
     4381 tgcagtgagc cgagattatg ccattgcact ccagccgggg gagcaacaaa gccagactcc
     4441 atctcaaaaa aaaaccaaaa aaaatcctat ttagtacaag gtacattatt taggtaatga
     4501 gtccattaaa agccaacact ttccccacta cactatatgt gtatgtaaca caactgccct
     4561 tgtaacttcc taaacctata attaagaaac aataaaaggc aaattaagaa tgctttttta
     4621 aaaggtgggg gcattatgct aataagttac tgtggatttc agagtgcaga gtagaaagat
     4681 cacaagaatt tagtgtggta ggtgggaaca gaaaatgggt gtataaattt tattgacgtg
     4741 ggagtactgg atattgtaga gacagatatc atcagggcaa ggagattaaa gatttttgca
     4801 ttgacggttt gacactatat tgtggtaata acactgtatg tgttgggaga tagaacagga
     4861 aacatcttcc ctggaatatg tatactatta aatgttttat caaacttttg atcaaacaag
     4921 acagcacaat ttataatttc atttctattt ctatgttatg agaaactgat catttattca
     4981 aatgtttaac aggcatgttc atgttactat aaactcttct gtttcaccat ca
//
LOCUS       NM_001037281            1244 bp    mRNA    linear   PRI 19-FEB-2023
DEFINITION  Homo sapiens par-6 family cell polarity regulator alpha (PARD6A),
            transcript variant 2, mRNA.
ACCESSION   NM_001037281
VERSION     NM_001037281.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1244)
  AUTHORS   Huang Y, Liu P, Luo J, Zhu C, Lu C, Zhao N, Zhao W, Cui W and Yang
            X.
  TITLE     Par6 Enhances Glioma Invasion by Activating MEK/ERK Pathway Through
            a LIN28/let-7d Positive Feedback Loop
  JOURNAL   Mol Neurobiol 60 (3), 1626-1644 (2023)
   PUBMED   36542194
  REMARK    GeneRIF: Par6 Enhances Glioma Invasion by Activating MEK/ERK Pathway
            Through a LIN28/let-7d Positive Feedback Loop.
REFERENCE   2  (bases 1 to 1244)
  AUTHORS   Lu Z, Yuan S, Ruan L, Tu Z and Liu H.
  TITLE     Partitioning defective 6 homolog alpha (PARD6A) promotes
            epithelial-mesenchymal transition via integrin beta1-ILK-SNAIL1
            pathway in ovarian cancer
  JOURNAL   Cell Death Dis 13 (4), 304 (2022)
   PUBMED   35379775
  REMARK    GeneRIF: Partitioning defective 6 homolog alpha (PARD6A) promotes
            epithelial-mesenchymal transition via integrin beta1-ILK-SNAIL1
            pathway in ovarian cancer. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1244)
  AUTHORS   Dong W, Lu J, Zhang X, Wu Y, Lettieri K, Hammond GR and Hong Y.
  TITLE     A polybasic domain in aPKC mediates Par6-dependent control of
            membrane targeting and kinase activity
  JOURNAL   J Cell Biol 219 (7) (2020)
   PUBMED   32580209
  REMARK    GeneRIF: A polybasic domain in aPKC mediates Par6-dependent control
            of membrane targeting and kinase activity.
REFERENCE   4  (bases 1 to 1244)
  AUTHORS   Liu P, Zhu C, Luo J, Lan S, Su D, Wang Q, Wei Z, Cui W, Xu C and
            Yang X.
  TITLE     Par6 regulates cell cycle progression through enhancement of
            Akt/PI3K/GSK-3beta signaling pathway activation in glioma
  JOURNAL   FASEB J 34 (1), 1481-1496 (2020)
   PUBMED   31914615
  REMARK    GeneRIF: The pathological analysis confirmed the correlation between
            Par6 expression and the prognosis in human glioma tissues,
            suggesting the regulation of Par6 expression regulates glioma
            tumorigenesis and progression.
REFERENCE   5  (bases 1 to 1244)
  AUTHORS   Bruurs LJM, van der Net MC, Zwakenberg S, Zwartkruis FJT and Bos JL.
  TITLE     A Tuba/Cdc42/Par6A complex is required to ensure singularity in
            apical domain formation during enterocyte polarization
  JOURNAL   PLoS One 13 (11), e0207159 (2018)
   PUBMED   30408122
  REMARK    GeneRIF: In Par6A knockout cells, we find that active Cdc42 is more
            mobile at the apical membrane compared to control cells and that
            wild type Cdc42 is more diffusely localized throughout the cell,
            indicating that Par6A is required to restrict Cdc42 signaling.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1244)
  AUTHORS   Suzuki A, Yamanaka T, Hirose T, Manabe N, Mizuno K, Shimizu M,
            Akimoto K, Izumi Y, Ohnishi T and Ohno S.
  TITLE     Atypical protein kinase C is involved in the evolutionarily
            conserved par protein complex and plays a critical role in
            establishing epithelia-specific junctional structures
  JOURNAL   J Cell Biol 152 (6), 1183-1196 (2001)
   PUBMED   11257119
REFERENCE   7  (bases 1 to 1244)
  AUTHORS   Johansson A, Driessens M and Aspenstrom P.
  TITLE     The mammalian homologue of the Caenorhabditis elegans polarity
            protein PAR-6 is a binding partner for the Rho GTPases Cdc42 and
            Rac1
  JOURNAL   J Cell Sci 113 (Pt 18), 3267-3275 (2000)
   PUBMED   10954424
REFERENCE   8  (bases 1 to 1244)
  AUTHORS   Joberty G, Petersen C, Gao L and Macara IG.
  TITLE     The cell-polarity protein Par6 links Par3 and atypical protein
            kinase C to Cdc42
  JOURNAL   Nat Cell Biol 2 (8), 531-539 (2000)
   PUBMED   10934474
REFERENCE   9  (bases 1 to 1244)
  AUTHORS   Qiu RG, Abo A and Steven Martin G.
  TITLE     A human homolog of the C. elegans polarity determinant Par-6 links
            Rac and Cdc42 to PKCzeta signaling and cell transformation
  JOURNAL   Curr Biol 10 (12), 697-707 (2000)
   PUBMED   10873802
REFERENCE   10  (bases 1 to 1244)
  AUTHORS   Rousset R, Fabre S, Desbois C, Bantignies F and Jalinot P.
  TITLE     The C-terminus of the HTLV-1 Tax oncoprotein mediates interaction
            with the PDZ domain of cellular proteins
  JOURNAL   Oncogene 16 (5), 643-654 (1998)
   PUBMED   9482110
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB041642.1, AF252292.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000458121.7/ ENSP00000392388.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF252292.1 and BC015626.2.
            On Jun 2, 2019 this sequence version replaced NM_001037281.1.
            Summary: This gene is a member of the PAR6 family and encodes a
            protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a
            semi-Cdc42/Rac interactive binding (CRIB) domain. This cell
            membrane protein is involved in asymmetrical cell division and cell
            polarization processes as a member of a multi-protein complex. The
            protein also has a role in the epithelial-to-mesenchymal transition
            (EMT) that characterizes the invasive phenotype associated with
            metastatic carcinomas. Alternate transcriptional splice variants,
            encoding different isoforms, have been characterized. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the coding region, compared to variant 1, resulting
            in a protein (isoform 2) that is one amino acid shorter than
            isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1244
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..1244
                     /gene="PARD6A"
                     /gene_synonym="PAR-6A; PAR6; PAR6alpha; PAR6C; TAX40;
                     TIP-40"
                     /note="par-6 family cell polarity regulator alpha"
                     /db_xref="GeneID:50855"
                     /db_xref="HGNC:HGNC:15943"
                     /db_xref="MIM:607484"
     CDS             80..1117
                     /gene="PARD6A"
                     /gene_synonym="PAR-6A; PAR6; PAR6alpha; PAR6C; TAX40;
                     TIP-40"
                     /note="isoform 2 is encoded by transcript variant 2;
                     partitioning-defective protein 6; Tax-interacting protein
                     40; partitioning defective 6 homolog alpha; PAR-6 alpha;
                     tax interaction protein 40; par-6 partitioning defective 6
                     homolog alpha"
                     /codon_start=1
                     /product="partitioning defective 6 homolog alpha isoform 2"
                     /protein_id="NP_001032358.1"
                     /db_xref="CCDS:CCDS45514.1"
                     /db_xref="GeneID:50855"
                     /db_xref="HGNC:HGNC:15943"
                     /db_xref="MIM:607484"
                     /translation="MARPQRTPARSPDSIVEVKSKFDAEFRRFALPRASVSGFQEFSRL
                     LRAVHQIPGLDVLLGYTDAHGDLLPLTNDDSLHRALASGPPPLRLLVQKREADSSGLAF
                     ASNSLQRRKKGLLLRPVAPLRTRPPLLISLPQDFRQVSSVIDVDLLPETHRRVRLHKHG
                     SDRPLGFYIRDGMSVRVAPQGLERVPGIFISRLVRGGLAESTGLLAVSDEILEVNGIEV
                     AGKTLDQVTDMMVANSHNLIVTVKPANQRNNVVRGASGRLTGPPSAGPGPAEPDSDDDS
                     SDLVIENRQPPSSNGLSQGPPCWDLHPGCRHPGTRSSLPSLDDQEQASSGWGSRIRGDG
                     SGFSL"
     misc_feature    452..835
                     /gene="PARD6A"
                     /gene_synonym="PAR-6A; PAR6; PAR6alpha; PAR6C; TAX40;
                     TIP-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPB6.1);
                     Region: Interaction with PARD3 and CDC42.
                     /evidence=ECO:0000250"
     misc_feature    845..1114
                     /gene="PARD6A"
                     /gene_synonym="PAR-6A; PAR6; PAR6alpha; PAR6C; TAX40;
                     TIP-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPB6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    908..910
                     /gene="PARD6A"
                     /gene_synonym="PAR-6A; PAR6; PAR6alpha; PAR6C; TAX40;
                     TIP-40"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q9NPB6.1); phosphorylation site"
     misc_feature    1109..1111
                     /gene="PARD6A"
                     /gene_synonym="PAR-6A; PAR6; PAR6alpha; PAR6C; TAX40;
                     TIP-40"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NPB6.1); phosphorylation site"
     regulatory      1222..1227
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PARD6A"
                     /gene_synonym="PAR-6A; PAR6; PAR6alpha; PAR6C; TAX40;
                     TIP-40"
                     /note="hexamer: ATTAAA"
     polyA_site      1244
                     /gene="PARD6A"
                     /gene_synonym="PAR-6A; PAR6; PAR6alpha; PAR6C; TAX40;
                     TIP-40"
                     /note="major polyA site"
ORIGIN
        1 gcgggcgggc cggccgggct gtgcacctgc gcctcggcgg gccgcctggg gcaccgtccc
       61 cggcccgccc ggccccgcca tggcccggcc gcagaggact ccggcgcgca gtcccgatag
      121 catcgtcgag gtgaagagca aatttgacgc cgagttccga cgcttcgcgc tgcctcgcgc
      181 ttcggtgagc ggcttccagg agttctcgcg gttgctgcgg gcggtgcacc agatcccggg
      241 cctggacgtg ctacttggct atacggatgc tcatggcgac ctgctgcccc tcaccaacga
      301 cgacagcctg caccgggccc tggccagcgg gcccccgcca ctgcgcctac tggtgcagaa
      361 gcgggaagct gactccagcg gcctggcttt tgcctccaac tctctgcagc ggcgcaagaa
      421 agggctcttg ctgcggccag tggcacccct gcgcacccgg ccacccttgc taatcagcct
      481 gccccaagat ttccgccagg tttcctcagt catagacgtg gacctactgc ctgagaccca
      541 ccgacgggtg cggctgcaca agcatggttc agaccgcccc ctgggcttct acatccgaga
      601 tggcatgagc gtgcgtgtgg ctccccaggg cctggagcgg gttccaggaa tcttcatctc
      661 ccgcctggta cgtgggggtc tggctgagag tacagggctg ctggcggtca gtgatgagat
      721 cctcgaggtc aatggcattg aagtagccgg gaagaccttg gaccaagtga cggacatgat
      781 ggttgccaac agccataacc tcattgtcac tgtcaagccc gccaaccagc gcaataacgt
      841 ggtgcgaggg gcatctgggc gtttgacagg tcctccctct gcagggcctg ggcctgctga
      901 gcctgatagt gacgatgaca gcagtgacct ggtcattgag aaccgccagc ctcccagttc
      961 caatgggctg tctcaggggc ccccgtgctg ggacctgcac cctggctgcc gacatcctgg
     1021 tacccgcagc tctctgccct ccctggatga ccaggagcag gccagttctg gctgggggag
     1081 tcgcattcga ggagatggta gtggcttcag cctctgacag tcaggatgaa gccccatgcc
     1141 actccacact gctgggacat ggcagggact tcacagtggg ggtttttagc tggctcacag
     1201 ggctccctca gcctggggaa cattaaaggt tttctacaaa taca
//
LOCUS       NM_001037283            3096 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens eukaryotic translation initiation factor 3 subunit B
            (EIF3B), transcript variant 2, mRNA.
ACCESSION   NM_001037283
VERSION     NM_001037283.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3096)
  AUTHORS   Fang P, Han Y, Qu Y, Wang X, Zhang Y, Zhang W, Zhang N, Li G and Ma
            W.
  TITLE     EIF3B stabilizes PTGS2 expression by counteracting MDM2-mediated
            ubiquitination to promote the development and progression of
            malignant melanoma
  JOURNAL   Cancer Sci 113 (12), 4181-4192 (2022)
   PUBMED   36050601
  REMARK    GeneRIF: EIF3B stabilizes PTGS2 expression by counteracting
            MDM2-mediated ubiquitination to promote the development and
            progression of malignant melanoma.
REFERENCE   2  (bases 1 to 3096)
  AUTHORS   Song S, Liu J, Zhang M, Gao X, Sun W, Liu P, Wang Y and Li J.
  TITLE     Eukaryotic translation initiation factor 3 subunit B could serve as
            a potential prognostic predictor for breast cancer
  JOURNAL   Bioengineered 13 (2), 2762-2776 (2022)
   PUBMED   35040374
  REMARK    GeneRIF: Eukaryotic translation initiation factor 3 subunit B could
            serve as a potential prognostic predictor for breast cancer.
REFERENCE   3  (bases 1 to 3096)
  AUTHORS   Zhu F, Fu Y and He X.
  TITLE     EIF3B Associates with Exacerbated Clinical Features, Poor Treatment
            Response and Survival in Adult Philadelphia Chromosome Negative
            Acute Lymphoblastic Leukemia Patients
  JOURNAL   Technol Cancer Res Treat 20, 15330338211041464 (2021)
   PUBMED   34617851
  REMARK    GeneRIF: EIF3B Associates with Exacerbated Clinical Features, Poor
            Treatment Response and Survival in Adult Philadelphia Chromosome
            Negative Acute Lymphoblastic Leukemia Patients.
REFERENCE   4  (bases 1 to 3096)
  AUTHORS   Xiang P, Sun Y, Fang Z, Yan K and Fan Y.
  TITLE     Eukaryotic translation initiation factor 3 subunit b is a novel
            oncogenic factor in prostate cancer
  JOURNAL   Mamm Genome 31 (7-8), 197-204 (2020)
   PUBMED   32556998
  REMARK    GeneRIF: Eukaryotic translation initiation factor 3 subunit b is a
            novel oncogenic factor in prostate cancer.
REFERENCE   5  (bases 1 to 3096)
  AUTHORS   Ma F, Li X, Ren J, Guo R, Li Y, Liu J, Sun Y, Liu Z, Jia J and Li W.
  TITLE     Downregulation of eukaryotic translation initiation factor 3b
            inhibited proliferation and metastasis of gastric cancer
  JOURNAL   Cell Death Dis 10 (9), 623 (2019)
   PUBMED   31423012
  REMARK    GeneRIF: Downregulation of eukaryotic translation initiation factor
            3b inhibited proliferation and metastasis of gastric cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3096)
  AUTHORS   Sizova DV, Kolupaeva VG, Pestova TV, Shatsky IN and Hellen CU.
  TITLE     Specific interaction of eukaryotic translation initiation factor 3
            with the 5' nontranslated regions of hepatitis C virus and classical
            swine fever virus RNAs
  JOURNAL   J Virol 72 (6), 4775-4782 (1998)
   PUBMED   9573242
REFERENCE   7  (bases 1 to 3096)
  AUTHORS   Chaudhuri J, Chakrabarti A and Maitra U.
  TITLE     Biochemical characterization of mammalian translation initiation
            factor 3 (eIF3). Molecular cloning reveals that p110 subunit is the
            mammalian homologue of Saccharomyces cerevisiae protein Prt1
  JOURNAL   J Biol Chem 272 (49), 30975-30983 (1997)
   PUBMED   9388245
REFERENCE   8  (bases 1 to 3096)
  AUTHORS   Methot N, Rom E, Olsen H and Sonenberg N.
  TITLE     The human homologue of the yeast Prt1 protein is an integral part of
            the eukaryotic initiation factor 3 complex and interacts with p170
  JOURNAL   J Biol Chem 272 (2), 1110-1116 (1997)
   PUBMED   8995410
REFERENCE   9  (bases 1 to 3096)
  AUTHORS   Asano K, Kinzy TG, Merrick WC and Hershey JW.
  TITLE     Conservation and diversity of eukaryotic translation initiation
            factor eIF3
  JOURNAL   J Biol Chem 272 (2), 1101-1109 (1997)
   PUBMED   8995409
REFERENCE   10  (bases 1 to 3096)
  AUTHORS   Kirken RA, Rui H, Evans GA and Farrar WL.
  TITLE     Characterization of an interleukin-2 (IL-2)-induced tyrosine
            phosphorylated 116-kDa protein associated with the IL-2 receptor
            beta-subunit
  JOURNAL   J Biol Chem 268 (30), 22765-22770 (1993)
   PUBMED   7693677
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.139427.1, U78525.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000360876.9/ ENSP00000354125.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004971.3, U78525.1 and BQ045103.1.
            On Nov 23, 2018 this sequence version replaced NM_001037283.1.
            Transcript Variant: This variant (2) represents the longest
            transcript. Variants 1, 2 and 3 encode the same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3096
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     gene            1..3096
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="eukaryotic translation initiation factor 3 subunit
                     B"
                     /db_xref="GeneID:8662"
                     /db_xref="HGNC:HGNC:3280"
                     /db_xref="MIM:603917"
     misc_feature    13
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="5'-most of multiple alternative transcription
                     initiation sites"
     misc_feature    41
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="predominant transcription initiation site"
     CDS             96..2540
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="isoform 1 is encoded by transcript variant 2;
                     eukaryotic translation initiation factor 3, subunit 9 (eta,
                     116kD); eukaryotic translation initiation factor 3, subunit
                     9 eta, 116kDa; prt1 homolog; eukaryotic translation
                     initiation factor 3 subunit 9; protein synthesis 1"
                     /codon_start=1
                     /product="eukaryotic translation initiation factor 3
                     subunit B isoform 1"
                     /protein_id="NP_001032360.1"
                     /db_xref="CCDS:CCDS5332.1"
                     /db_xref="GeneID:8662"
                     /db_xref="HGNC:HGNC:3280"
                     /db_xref="MIM:603917"
                     /translation="MQDAENVAVPEAAEERAEPGQQQPAAEPPPAEGLLRPAGPGAPEA
                     AGTEASSEEVGIAEAGPESEVRTEPAAEAEAASGPSESPSPPAAEELPGSHAEPPVPAQ
                     GEAPGEQARDERSDSRAQAVSEDAGGNEGRAAEAEPRALENGDADEPSFSDPEDFVDDV
                     SEEELLGDVLKDRPQEADGIDSVIVVDNVPQVGPDRLEKLKNVIHKIFSKFGKITNDFY
                     PEEDGKTKGYIFLEYASPAHAVDAVKNADGYKLDKQHTFRVNLFTDFDKYMTISDEWDI
                     PEKQPFKDLGNLRYWLEEAECRDQYSVIFESGDRTSIFWNDVKDPVSIEERARWTETYV
                     RWSPKGTYLATFHQRGIALWGGEKFKQIQRFSHQGVQLIDFSPCERYLVTFSPLMDTQD
                     DPQAIIIWDILTGHKKRGFHCESSAHWPIFKWSHDGKFFARMTLDTLSIYETPSMGLLD
                     KKSLKISGIKDFSWSPGGNIIAFWVPEDKDIPARVTLMQLPTRQEIRVRNLFNVVDCKL
                     HWQKNGDYLCVKVDRTPKGTQGVVTNFEIFRMREKQVPVDVVEMKETIIAFAWEPNGSK
                     FAVLHGEAPRISVSFYHVKNNGKIELIKMFDKQQANTIFWSPQGQFVVLAGLRSMNGAL
                     AFVDTSDCTVMNIAEHYMASDVEWDPTGRYVVTSVSWWSHKVDNAYWLWTFQGRLLQKN
                     NKDRFCQLLWRPRPPTLLSQEQIKQIKKDLKKYSKIFEQKDRLSQSKASKELVERRRTM
                     MEDFRKYRKMAQELYMEQKNERLELRGGVDTDELDSNVDDWEEETIEFFVTEEIIPLGN
                     QE"
     misc_feature    96..569
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    96..98
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P55884.3); acetylation site"
     misc_feature    327..329
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P55884.3); phosphorylation site"
     misc_feature    336..338
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P55884.3); phosphorylation site"
     misc_feature    342..344
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:18669648;
                     propagated from UniProtKB/Swiss-Prot (P55884.3);
                     phosphorylation site"
     misc_feature    348..350
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:18669648;
                     propagated from UniProtKB/Swiss-Prot (P55884.3);
                     phosphorylation site"
     misc_feature    450..452
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308; propagated from
                     UniProtKB/Swiss-Prot (P55884.3); phosphorylation site"
     misc_feature    465..1334
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3);
                     Region: Sufficient for interaction with EIF3E"
     misc_feature    468..470
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P55884.3); phosphorylation site"
     misc_feature    549..551
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (P55884.3);
                     phosphorylation site"
     misc_feature    555..557
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P55884.3); phosphorylation site"
     misc_feature    585..587
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03001,
                     ECO:0000269|PubMed:17322308, ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231;
                     propagated from UniProtKB/Swiss-Prot (P55884.3);
                     phosphorylation site"
     misc_feature    603..917
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3);
                     Region: Sufficient for interaction with EIF3J"
     misc_feature    720..722
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P55884.3); acetylation site"
     misc_feature    810..812
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P55884.3);
                     phosphorylation site"
     misc_feature    957..959
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P55884.3); acetylation site"
     misc_feature    1185..1187
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P55884.3); acetylation site"
     misc_feature    1191..1370
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3);
                     Region: WD 3"
     misc_feature    1371..1562
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3);
                     Region: WD 4"
     misc_feature    1563..1754
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3);
                     Region: WD 5"
     misc_feature    1755..1889
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3);
                     Region: WD 6"
     misc_feature    1890..2021
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3);
                     Region: WD 7"
     misc_feature    2022..2150
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P55884.3);
                     Region: WD 8"
     regulatory      3072..3077
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="hexamer: AATAAA"
     polyA_site      3096
                     /gene="EIF3B"
                     /gene_synonym="EIF3-ETA; EIF3-P110; EIF3-P116; EIF3S9;
                     PRT1"
                     /note="major polyA site"
ORIGIN
        1 atggctgggc tgtagccgtc gcggcgcgcg gtgcggcctg ggagagtcgg aagcgcggcg
       61 gccgcggagc cctgcgagta ggcagcgttg ggcccatgca ggacgcggag aacgtggcgg
      121 tgcccgaggc ggccgaggag cgcgccgagc ccggccagca gcagccggcc gccgagccgc
      181 cgccagccga ggggctgctg cggcccgcgg ggcccggcgc tccggaggcc gcggggaccg
      241 aggcctccag tgaggaggtg gggatcgcgg aggccgggcc ggagtccgag gtgaggaccg
      301 agccggcggc cgaggcagag gcggcctccg gcccgtccga gtcgccctcg ccgccggccg
      361 ccgaggagct gcccgggtcg catgctgagc cccctgtccc ggcacagggc gaggccccag
      421 gagagcaggc tcgggacgag cgctccgaca gccgggccca ggcggtgtcc gaggacgcgg
      481 gaggaaacga gggcagagcg gccgaggccg aaccccgggc gctggagaac ggcgacgcgg
      541 acgagccctc cttcagcgac cccgaggact tcgtggacga cgtgagcgag gaagaattac
      601 tgggagatgt actcaaagat cggccccagg aagcagatgg aatcgattcg gtgattgtag
      661 tggacaatgt ccctcaggtg ggacccgacc gacttgagaa actcaaaaat gtcatccaca
      721 agatcttttc caagtttggg aaaatcacaa atgattttta tcctgaagag gatgggaaga
      781 caaaagggta tattttcctg gagtacgcgt cccctgccca cgctgtggat gctgtgaaga
      841 acgccgacgg ctacaagctt gacaagcagc acacattccg ggtcaacctc tttacggatt
      901 ttgacaagta tatgacgatc agtgacgagt gggatattcc agagaaacag cctttcaaag
      961 acctggggaa cttacgttac tggcttgaag aggcagaatg cagagatcag tacagtgtga
     1021 tttttgagag tggagaccgc acttccatat tctggaatga cgtaaaagac cctgtctcaa
     1081 ttgaagaaag agcgagatgg acagagacgt atgtgcgttg gtctcctaag ggcacctacc
     1141 tggctacctt tcatcaaaga ggcattgctc tatggggggg agagaaattc aagcaaattc
     1201 agagattcag ccaccaaggg gttcagctta ttgacttctc accttgtgaa aggtacctgg
     1261 tgacctttag ccccctgatg gacacgcagg atgaccctca ggccataatc atctgggaca
     1321 tccttacggg gcacaagaag aggggttttc actgtgagag ctcagcccat tggcctattt
     1381 ttaagtggag ccatgatggc aaattctttg ccagaatgac cctggatacg cttagcatct
     1441 atgaaactcc ttctatgggt cttttggaca agaagagttt gaagatctct gggataaaag
     1501 acttttcttg gtctcctggt ggtaacataa tcgccttctg ggtgcctgaa gacaaagata
     1561 ttccagccag ggtaaccctg atgcagctcc ctaccaggca agagatccga gtgaggaacc
     1621 tgttcaatgt ggtggactgc aagctccatt ggcagaagaa cggagactac ttgtgtgtga
     1681 aagtagatag gactccgaaa ggcacccagg gtgttgtcac aaattttgaa attttccgaa
     1741 tgagggagaa acaggtacct gtggatgtgg tcgagatgaa agaaaccatc atagcctttg
     1801 cctgggaacc aaatggaagt aagtttgctg tgctgcacgg agaggctccg cggatatctg
     1861 tgtctttcta ccacgtcaaa aacaacggga agattgaact catcaagatg ttcgacaagc
     1921 agcaggcgaa caccatcttc tggagccccc aaggacagtt cgtggtgttg gcgggcctga
     1981 ggagtatgaa cggtgcctta gcgtttgtgg acacttcgga ctgcacggtc atgaacatcg
     2041 cagagcacta catggcttcc gacgtcgaat gggatcctac tgggcgctac gtcgtcacct
     2101 ctgtgtcctg gtggagccat aaggtggaca acgcgtactg gctgtggact ttccagggac
     2161 gcctcctgca gaagaacaac aaggaccgct tctgccagct gctgtggcgg ccccggcctc
     2221 ccacactcct gagccaggaa cagatcaagc aaattaaaaa ggatctgaag aaatactcta
     2281 agatctttga acagaaggat cgtttgagtc agtccaaagc ctcaaaggaa ttggtggaga
     2341 gaaggcgcac catgatggaa gatttccgga agtaccggaa aatggcccag gagctctata
     2401 tggagcagaa aaacgagcgc ctggagttgc gaggaggggt ggacactgac gagctggaca
     2461 gcaacgtgga cgactgggaa gaggagacca ttgagttctt cgtcactgaa gaaatcattc
     2521 ccctcgggaa tcaggagtga cctggagcac tgtggggacg gactccgcct gctgttcccg
     2581 cgctgagcta caggactccc gagtgtgagc cgcggttcct ctgttgcagc gcagccgtgt
     2641 gtgctgtgga gccgaggccg tcctgcagga agccgcgtga ctcccgcctc ctccctgtgc
     2701 tctctggctc tggactgtga ctgcgcctgg attctgccat tgcgacacat ttttgtgcct
     2761 ttcagcccct ggtgtctgca gtgggggatt taaggcaccc gcttccactt ctttcttgtt
     2821 tggagttttc tgttggaacc gccggcgttg gctccgaaga cttagcgacg ccactggcgg
     2881 caccttctcc tgcgcccagt gatgtttcca cggtgcctgt acacagccga gcagcatttc
     2941 cgttgaagga cttgcatccc cattgcgggc agtgctggac gtgtcccgga gacccaccgg
     3001 gagggcgccg ccatgccttg tacccccacc gtgcaggttg tggccggttt tctccgcagg
     3061 ttgaacatgg aaataaaagc aaacttgtat gaaaaa
//
LOCUS       NM_001037317            3983 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens phospholipid phosphatase related 5 (PLPPR5), transcript
            variant 1, mRNA.
ACCESSION   NM_001037317
VERSION     NM_001037317.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3983)
  AUTHORS   Kim YK, Kim Y, Hwang MY, Shimokawa K, Won S, Kato N, Tabara Y,
            Yokota M, Han BG, Lee JH and Kim BJ.
  TITLE     Identification of a genetic variant at 2q12.1 associated with blood
            pressure in East Asians by genome-wide scan including
            gene-environment interactions
  JOURNAL   BMC Med Genet 15, 65 (2014)
   PUBMED   24903457
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3983)
  AUTHORS   Shaffer JR, Feingold E, Wang X, Lee M, Tcuenco K, Weeks DE, Weyant
            RJ, Crout R, McNeil DW and Marazita ML.
  TITLE     GWAS of dental caries patterns in the permanent dentition
  JOURNAL   J Dent Res 92 (1), 38-44 (2013)
   PUBMED   23064961
REFERENCE   3  (bases 1 to 3983)
  AUTHORS   Wang X, Shaffer JR, Zeng Z, Begum F, Vieira AR, Noel J, Anjomshoaa
            I, Cuenco KT, Lee MK, Beck J, Boerwinkle E, Cornelis MC, Hu FB,
            Crosslin DR, Laurie CC, Nelson SC, Doheny KF, Pugh EW, Polk DE,
            Weyant RJ, Crout R, McNeil DW, Weeks DE, Feingold E and Marazita ML.
  TITLE     Genome-wide association scan of dental caries in the permanent
            dentition
  JOURNAL   BMC Oral Health 12, 57 (2012)
   PUBMED   23259602
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3983)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   5  (bases 1 to 3983)
  AUTHORS   Broggini T, Nitsch R and Savaskan NE.
  TITLE     Plasticity-related gene 5 (PRG5) induces filopodia and neurite
            growth and impedes lysophosphatidic acid- and nogo-A-mediated axonal
            retraction
  JOURNAL   Mol Biol Cell 21 (4), 521-537 (2010)
   PUBMED   20032306
REFERENCE   6  (bases 1 to 3983)
  AUTHORS   Sun L, Gu S, Sun Y, Zheng D, Wu Q, Li X, Dai J, Dai J, Ji C, Xie Y
            and Mao Y.
  TITLE     Cloning and characterization of a novel human phosphatidic acid
            phosphatase type 2, PAP2d, with two different transcripts PAP2d_v1
            and PAP2d_v2
  JOURNAL   Mol Cell Biochem 272 (1-2), 91-96 (2005)
   PUBMED   16010976
  REMARK    GeneRIF: A novel human phosphatidic acid phosphatase type 2 isoform
            cDNAs (PAP2d) from the fetal brain cDNA library was cloned and
            characterized.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.18547.1,
            SRR1803612.25856.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2149178,
            SAMEA2157437 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000263177.5/ ENSP00000263177.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DR001828.1, AY574039.1,
            BC040174.1, AF131783.1 and R37934.1.
            On Nov 22, 2018 this sequence version replaced NM_001037317.1.
            Summary: The protein encoded by this gene is a type 2 member of the
            phosphatidic acid phosphatase (PAP) family. All type 2 members of
            this protein family contain 6 transmembrane regions, and a
            consensus N-glycosylation site. PAPs convert phosphatidic acid to
            diacylglycerol, and function in de novo synthesis of glycerolipids
            as well as in receptor-activated signal transduction mediated by
            phospholipase D. Alternate transcriptional splice variants,
            encoding different isoforms, have been characterized. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (1), also known as PAP2d_v1,
            represents the longer transcript and encodes the longer isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3983
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.3"
     gene            1..3983
                     /gene="PLPPR5"
                     /gene_synonym="LPPR5; PAP2; PAP2D; PRG5"
                     /note="phospholipid phosphatase related 5"
                     /db_xref="GeneID:163404"
                     /db_xref="HGNC:HGNC:31703"
                     /db_xref="MIM:617287"
     CDS             191..1156
                     /gene="PLPPR5"
                     /gene_synonym="LPPR5; PAP2; PAP2D; PRG5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     phosphatidic acid phosphatase type 2; plasticity-related
                     protein 5; PRG-5; phosphatidic acid phosphatase 2d;
                     plasticity-related gene 5 protein; lipid phosphate
                     phosphatase-related protein type 5; phosphatidic acid
                     phosphatase type 2d; phospholipid phosphatase-related
                     protein type 5"
                     /codon_start=1
                     /product="phospholipid phosphatase-related protein type 5
                     isoform 1"
                     /protein_id="NP_001032394.1"
                     /db_xref="CCDS:CCDS30778.1"
                     /db_xref="GeneID:163404"
                     /db_xref="HGNC:HGNC:31703"
                     /db_xref="MIM:617287"
                     /translation="MPLLPAALTSSMLYFQMVIMAGTVMLAYYFEYTDTFTVNVQGFFC
                     HDSAYRKPYPGPEDSSAVPPVLLYSLAAGVPVLVIIVGETAVFCLQLATRDFENQEKTI
                     LTGDCCYINPLVRRTVRFLGIYTFGLFATDIFVNAGQVVTGNLAPHFLALCKPNYTALG
                     CQQYTQFISGEEACTGNPDLIMRARKTFPSKEAALSVYAAMYLTMYITNTIKAKGTRLA
                     KPVLCLGLMCLAFLTGLNRVAEYRNHWSDVIAGFLVGISIAVFLVVCVVNNFKGRQAEN
                     EHIHMDNLAQMPMISIPRVESPLEKVTSVQNHITAFAEVT"
     misc_feature    218..280
                     /gene="PLPPR5"
                     /gene_synonym="LPPR5; PAP2; PAP2D; PRG5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q32ZL2.2);
                     transmembrane region"
     misc_feature    374..436
                     /gene="PLPPR5"
                     /gene_synonym="LPPR5; PAP2; PAP2D; PRG5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q32ZL2.2);
                     transmembrane region"
     misc_feature    554..616
                     /gene="PLPPR5"
                     /gene_synonym="LPPR5; PAP2; PAP2D; PRG5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q32ZL2.2);
                     transmembrane region"
     misc_feature    776..829
                     /gene="PLPPR5"
                     /gene_synonym="LPPR5; PAP2; PAP2D; PRG5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q32ZL2.2);
                     transmembrane region"
     misc_feature    863..925
                     /gene="PLPPR5"
                     /gene_synonym="LPPR5; PAP2; PAP2D; PRG5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q32ZL2.2);
                     transmembrane region"
     misc_feature    944..1006
                     /gene="PLPPR5"
                     /gene_synonym="LPPR5; PAP2; PAP2D; PRG5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q32ZL2.2);
                     transmembrane region"
     regulatory      1840..1845
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLPPR5"
                     /gene_synonym="LPPR5; PAP2; PAP2D; PRG5"
                     /note="hexamer: ATTAAA"
     polyA_site      1860
                     /gene="PLPPR5"
                     /gene_synonym="LPPR5; PAP2; PAP2D; PRG5"
                     /note="major polyA site"
     regulatory      3951..3956
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLPPR5"
                     /gene_synonym="LPPR5; PAP2; PAP2D; PRG5"
                     /note="hexamer: AATAAA"
     polyA_site      3983
                     /gene="PLPPR5"
                     /gene_synonym="LPPR5; PAP2; PAP2D; PRG5"
ORIGIN
        1 agcctgccgg cgcctcgaag cccggacctg cctccgcctc ttcctccagc ggctccatcc
       61 cgcctcccgt gcctcgtcct cccgccgcct ccgccgccgc gcccccggtg gctgcctcgg
      121 cggaccgggg agggggccca ccgcgtcgac cgcccgctcg gctcggctcg gcccggcccg
      181 ggaggcgtgc atgcccctgc tgcccgcggc gctcaccagc agcatgctct atttccagat
      241 ggtgatcatg gcagggacgg tgatgctggc gtactacttc gagtatacgg acacgttcac
      301 cgtgaacgtg cagggcttct tctgccacga cagcgcctac cgcaaaccct acccgggccc
      361 ggaggacagc agcgccgtgc cccccgtgct cctctactcg ctggccgccg gggtccccgt
      421 gctcgtgata atagttggag aaactgctgt cttttgccta caactagcca caagggattt
      481 tgaaaaccag gaaaaaacta ttttaactgg agactgttgc tatataaacc cgctggtgcg
      541 ccgaactgtc cgatttcttg gaatttatac atttggactg tttgctacag atatctttgt
      601 aaatgctgga caagtagtca caggaaatct ggccccacat ttccttgccc tgtgtaagcc
      661 caattataca gcacttggat gtcagcagta tacacaattc atcagtgggg aagaggcctg
      721 tactggcaac ccagatctca tcatgagagc ccgaaaaacc tttccatcca aagaagcagc
      781 tctcagtgtc tatgcagcta tgtatctgac catgtacatc accaacacaa tcaaagccaa
      841 gggaaccaga cttgctaagc cagttctatg cttgggctta atgtgtttgg catttcttac
      901 tggactcaac agagtagcag aatatcgaaa tcattggtca gatgttatag caggctttct
      961 ggttggaata tctatagcag tatttctggt tgtgtgcgtg gtgaataatt tcaaagggag
     1021 acaagcagaa aatgagcata tacacatgga taatctggca cagatgccaa tgatcagcat
     1081 tcctcgagta gaaagtcctt tggaaaaggt aacatctgta cagaaccaca tcactgcctt
     1141 cgcagaagtc acatgatatc gaagcagatg gtttttcact gcattggaca tcatcccttt
     1201 ttaccatcca ttcataacac ccaaagtttg tttgattgca agtgaagttt ataaagttgt
     1261 ttaataattt ttataatttt aaaatcaatg tcaacctatc tgtttccccc actagactgt
     1321 gagctcctcg agggcaggat tgtctttttt tttctgtgtc cccagcactt acaacaaagc
     1381 ctagcacaaa gtaggtgttc aacaaaaatg tgatgaccaa atgaacaaaa ttcttaaata
     1441 aaacattcac tttagtttct cacagaatca ttgcaattat gttaaaagaa atctctacat
     1501 aaatcgtatt tgtgtatgaa aaccttctat tttgggctag ttattttttt aatcttcata
     1561 tatctattca gcagtatgcc atatttaatt tgaagtggac tttgaaagtc atgggggttt
     1621 ttattttgtt attcagcatg acattatttc cattctaaca tttcagtgtg tgaaattact
     1681 ttatttttag aaagtatgtt ctatagtaaa ataatgtttc cacattatat tatgttatat
     1741 ttcacttaaa atactattca tactatacat tctaagactg gtgcttctgc ttttgaaggg
     1801 gaaaatgcca atttttactg taataagtaa tgtatcataa ttaaaaatta tttatttgga
     1861 cttcttctcc tgacaattgt ggcttaattc atgacttgtt tttgaatgca ggcagtattt
     1921 agggtagttt aaatgagtaa attcagcact ggtaccttat tattgagtaa tttcccatgg
     1981 gtagcagtgt ctcaagagtg gtcaaaagct ccactcttag gcttttttac tactaaagat
     2041 tccacataat ttaaatggga aagaactata ccctgacaca taatttaaat tatataaatg
     2101 ctagaaatat ggttaatgta ttttactttg catttgtgta gtactttata gtttacaaag
     2161 catatttaca ccaattattt tatgtaatcc tcataataac ctggtataaa catgaagggt
     2221 atggctttat ttttatagat aagaaaaatg aagccaagac agggtaaata acatgccaaa
     2281 tcacaaacta gtaagagaca tagttgaagc ttaaattcaa gttttctggc cctgaactca
     2341 tattcctttc taatatagca cagctgtcat ctcattttgg acactgaggc ctttcagagc
     2401 tcagtagaat cctgggcaac tacctatggt tcaaaaaata aagaaatgcc agaatacaaa
     2461 tatgaaagct ctgctgtatt ttaaatgttt atgttttaag aatgaacact tttcaaatat
     2521 aaaactatat aataattata atccagtttt aagataatat caagagtcta gatgtgaggc
     2581 tttttgtgaa agagaagcct aaattcagca tctccccttc caccctcacc cccaggtccc
     2641 agcctcccac tcagcagagt gcccaaggga cataccttac atttagcatg tagaattcca
     2701 gattacaatc gccataatat aaggaaggtg agctcctcaa caataacttt gcaataatta
     2761 aaactaccct aagtaacttt ggcttatatg gcaaagtaac tttggcagta attgactgaa
     2821 atgaatcttt ctaaacttta cagtactaaa gaaagcaaac ttttaatttc ctctgtaatt
     2881 tcaacagaga tcagcaaata aatataacca aagattgtcc attactcccc aaatagatgt
     2941 tatttgccca tttctatcac tgtggaagct aaaacacttc tactagggcc aaaaagagaa
     3001 aagaaaagaa aatttctact aatttcagac ctctagagca attcagtcct gttggaaatt
     3061 tagaacatga agaaactttg aatgtcttga ccctttttaa agatttttta ggcaataaca
     3121 gtaataggga attcacttat tgagaatgaa agtgaagggg atgatcctaa tgtcttagaa
     3181 agctagatta ctagtaaggc ttccagactt ctatcagttc tattgattct acatcagact
     3241 tccaagcagc caagcaggaa tgtttttcct gttggaagcc ttagccatat attcttatgt
     3301 caaggttgct tctttgcacc ttgctaaacc tgatacgaat gcaggagttt taaattcttc
     3361 aaaaactcag atttaaccca gaaccagagt aaagtcacct ctactattta cacatcatag
     3421 gctcaagatt gtacagtgag tgatgctgtc atgaagaaaa ttcagatgaa aaaggcaaga
     3481 tacatgtgaa taaggcaaaa gccagaaaat agcccttatt catgatgctg ttactgagaa
     3541 taatgaaaat catatttcag aaaatattac catgtaaata tgtacatatg tagtctagta
     3601 aaagcaggca aacacatatc tttctgataa aaacatctcc tttttattct acttacttgg
     3661 ggcccaggtc agtataattt agtcaacttg aaaatttcgg tagtctctgt ttgcatggca
     3721 gaaattctgc acatgtttta tctgattcct gtgataactt aaaaggctct tttatgttaa
     3781 aagagaggtg aatcttcttt gacagacttt gtattttcca cttctaactg ggcctctctt
     3841 ttctcaggat ctatcctagc caaatatctc agttacattt accatacagt ttcctttgtg
     3901 aaagaacagt aggggaggaa ataattctct gctgtgtatt gtatttttca aataaaaatt
     3961 taaaaattca attgaaaact gaa
//
LOCUS       NM_001037329            1916 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens cyclic nucleotide gated channel subunit alpha 4
            (CNGA4), mRNA.
ACCESSION   NM_001037329
VERSION     NM_001037329.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1916)
  AUTHORS   Hofmann F, Biel M and Kaupp UB.
  TITLE     International Union of Pharmacology. LI. Nomenclature and
            structure-function relationships of cyclic nucleotide-regulated
            channels
  JOURNAL   Pharmacol Rev 57 (4), 455-462 (2005)
   PUBMED   16382102
  REMARK    Review article
REFERENCE   2  (bases 1 to 1916)
  AUTHORS   Kelliher KR, Ziesmann J, Munger SD, Reed RR and Zufall F.
  TITLE     Importance of the CNGA4 channel gene for odor discrimination and
            adaptation in behaving mice
  JOURNAL   Proc Natl Acad Sci U S A 100 (7), 4299-4304 (2003)
   PUBMED   12649326
REFERENCE   3  (bases 1 to 1916)
  AUTHORS   Bradley,J., Frings,S., Yau,K.W. and Reed,R.
  TITLE     Nomenclature for ion channel subunits
  JOURNAL   Science 294 (5549), 2095-2096 (2001)
   PUBMED   11764791
REFERENCE   4  (bases 1 to 1916)
  AUTHORS   Munger SD, Lane AP, Zhong H, Leinders-Zufall T, Yau KW, Zufall F and
            Reed RR.
  TITLE     Central role of the CNGA4 channel subunit in
            Ca2+-calmodulin-dependent odor adaptation
  JOURNAL   Science 294 (5549), 2172-2175 (2001)
   PUBMED   11739959
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK122736.1, SRR1803612.256359.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379936.3/ ENSP00000369268.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022762.8, DB238337.1 and AK122736.1.
            On May 17, 2019 this sequence version replaced NM_001037329.3.
            Summary: CNGA4 is a modulatory subunit of vertebrate cyclic
            nucleotide-gated membrane channels that transduce odorant signals
            (Munger et al., 2001 [PubMed 11739959]).[supplied by OMIM, Mar
            2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
FEATURES             Location/Qualifiers
     source          1..1916
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1916
                     /gene="CNGA4"
                     /gene_synonym="CNCA2; CNG-4; CNG4; CNG5; CNGB2; OCNC2;
                     OCNCb; OCNCBETA"
                     /note="cyclic nucleotide gated channel subunit alpha 4"
                     /db_xref="GeneID:1262"
                     /db_xref="HGNC:HGNC:2152"
                     /db_xref="MIM:609472"
     CDS             119..1846
                     /gene="CNGA4"
                     /gene_synonym="CNCA2; CNG-4; CNG4; CNG5; CNGB2; OCNC2;
                     OCNCb; OCNCBETA"
                     /note="cyclic nucleotide gated channel beta 2; CNG channel
                     alpha-4; cyclic nucleotide gated channel alpha 4"
                     /codon_start=1
                     /product="cyclic nucleotide-gated cation channel alpha-4"
                     /protein_id="NP_001032406.1"
                     /db_xref="CCDS:CCDS31408.1"
                     /db_xref="GeneID:1262"
                     /db_xref="HGNC:HGNC:2152"
                     /db_xref="MIM:609472"
                     /translation="MSQDTKVKTTESSPPAPSKARKLLPVLDPSGDYYYWWLNTMVFPV
                     MYNLIILVCRACFPDLQHGYLVAWLVLDYTSDLLYLLDMVVRFHTGFLEQGILVVDKGR
                     ISSRYVRTWSFFLDLASLMPTDVVYVRLGPHTPTLRLNRFLRAPRLFEAFDRTETRTAY
                     PNAFRIAKLMLYIFVVIHWNSCLYFALSRYLGFGRDAWVYPDPAQPGFERLRRQYLYSF
                     YFSTLILTTVGDTPPPAREEEYLFMVGDFLLAVMGFATIMGSMSSVIYNMNTADAAFYP
                     DHALVKKYMKLQHVNRKLERRVIDWYQHLQINKKMTNEVAILQHLPERLRAEVAVSVHL
                     STLSRVQIFQNCEASLLEELVLKLQPQTYSPGEYVCRKGDIGQEMYIIREGQLAVVADD
                     GITQYAVLGAGLYFGEISIINIKGNMSGNRRTANIKSLGYSDLFCLSKEDLREVLSEYP
                     QAQTIMEEKGREILLKMNKLDVNAEAAEIALQEATESRLRGLDQQLDDLQTKFARLLAE
                     LESSALKIAYRIERLEWQTREWPMPEDLAEADDEGEPEEGTSKDEEGRASQEGPPGPE"
     misc_feature    218..280
                     /gene="CNGA4"
                     /gene_synonym="CNCA2; CNG-4; CNG4; CNG5; CNGB2; OCNC2;
                     OCNCb; OCNCBETA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IV77.3);
                     transmembrane region"
     misc_feature    314..376
                     /gene="CNGA4"
                     /gene_synonym="CNCA2; CNG-4; CNG4; CNG5; CNGB2; OCNC2;
                     OCNCb; OCNCBETA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IV77.3);
                     transmembrane region"
     misc_feature    455..517
                     /gene="CNGA4"
                     /gene_synonym="CNCA2; CNG-4; CNG4; CNG5; CNGB2; OCNC2;
                     OCNCb; OCNCBETA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IV77.3);
                     transmembrane region"
     misc_feature    623..685
                     /gene="CNGA4"
                     /gene_synonym="CNCA2; CNG-4; CNG4; CNG5; CNGB2; OCNC2;
                     OCNCb; OCNCBETA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IV77.3);
                     transmembrane region"
     misc_feature    770..820
                     /gene="CNGA4"
                     /gene_synonym="CNCA2; CNG-4; CNG4; CNG5; CNGB2; OCNC2;
                     OCNCb; OCNCBETA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IV77.3);
                     transmembrane region"
     misc_feature    851..913
                     /gene="CNGA4"
                     /gene_synonym="CNCA2; CNG-4; CNG4; CNG5; CNGB2; OCNC2;
                     OCNCb; OCNCBETA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IV77.3);
                     transmembrane region"
     misc_feature    992..1024
                     /gene="CNGA4"
                     /gene_synonym="CNCA2; CNG-4; CNG4; CNG5; CNGB2; OCNC2;
                     OCNCb; OCNCBETA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IV77.3);
                     Region: IQ-type"
     misc_feature    1730..1843
                     /gene="CNGA4"
                     /gene_synonym="CNCA2; CNG-4; CNG4; CNG5; CNGB2; OCNC2;
                     OCNCb; OCNCBETA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IV77.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1896..1901
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CNGA4"
                     /gene_synonym="CNCA2; CNG-4; CNG4; CNG5; CNGB2; OCNC2;
                     OCNCb; OCNCBETA"
                     /note="hexamer: AGTAAA"
     polyA_site      1916
                     /gene="CNGA4"
                     /gene_synonym="CNCA2; CNG-4; CNG4; CNG5; CNGB2; OCNC2;
                     OCNCb; OCNCBETA"
                     /note="major polyA site"
ORIGIN
        1 agcagaagcc caacagcagc ctccttcagg cagtcaggca ctagtgccca actccagaag
       61 tcccctacag gcagagaggg tgtggacatc tcacacccca gcaccagacc acagaaccat
      121 gagccaggac accaaagtga agacaacaga gtccagtccc ccagccccat ccaaggccag
      181 gaagttgctg cctgtcctgg acccatctgg ggattactac tactggtggc tgaacacaat
      241 ggtcttccca gtcatgtata acctcatcat cctcgtgtgc agagcctgct tccccgactt
      301 gcagcacggt tatctggtgg cctggttggt gctggactac acgagtgacc tgctatacct
      361 actagacatg gtggtgcgct tccacacagg attcttggaa cagggcatcc tggtggtgga
      421 caagggtagg atctcgagtc gctacgttcg cacctggagt ttcttcttgg acctggcttc
      481 cctgatgccc acagatgtgg tctacgtgcg gctgggcccg cacacaccca ccctgaggct
      541 gaaccgcttt ctccgcgcgc cccgcctctt cgaggccttc gaccgcacag agacccgcac
      601 agcttaccca aatgcctttc gcattgccaa gctgatgctt tacatttttg tcgtcatcca
      661 ttggaacagc tgcctatact ttgccctatc ccggtacctg ggcttcgggc gtgacgcatg
      721 ggtgtacccg gaccccgcgc agcctggctt tgagcgcctg cggcgccagt acctctatag
      781 cttttacttc tccacgctga tactgactac agtgggcgat acaccgccgc cagccaggga
      841 agaagagtac ctcttcatgg tgggcgactt cctgctggcc gtcatgggtt tcgccaccat
      901 catgggtagc atgagctctg tcatctacaa catgaacact gcagatgcgg ctttctaccc
      961 agatcatgca ctggtgaaga agtacatgaa gctgcagcac gtcaaccgca agctggagcg
     1021 gcgagttatt gactggtatc agcacctgca gatcaacaag aagatgacca acgaggtagc
     1081 catcttacag cacttgcctg agcggctgcg ggcagaagtg gctgtgtctg tgcacctgtc
     1141 cactctgagc cgggtgcaga tctttcagaa ctgtgaggcc agcctgctgg aggagctggt
     1201 gctgaagctg cagccccaga cctactcacc aggtgaatat gtatgccgca aaggagacat
     1261 tggccaagag atgtacatca tccgagaggg tcaactggcc gtggtggcag atgatggtat
     1321 cacacagtat gctgtgctcg gtgcagggct ctactttggg gagatcagca tcatcaacat
     1381 caaagggaac atgtctggga accgccgcac agccaacatc aagagcctag gttattcaga
     1441 cctattctgc ctgagcaagg aggacctgcg ggaggtgctg agcgagtatc cacaagcaca
     1501 gaccatcatg gaggagaaag gacgtgagat cctgctgaaa atgaacaagt tggacgtgaa
     1561 tgctgaggca gctgagatcg ccctgcagga ggccacagag tcccggctac gaggcctaga
     1621 ccagcagctg gatgatctac agaccaagtt tgctcgcctc ctggctgagc tggagtccag
     1681 cgcacttaag attgcttacc gcattgaacg gctggagtgg cagactcgag agtggccaat
     1741 gcccgaggac ctggctgagg ctgatgacga gggtgagcct gaggagggaa cttccaaaga
     1801 tgaagagggc agggccagcc aggagggacc cccaggtcca gagtgacccc atccccatcc
     1861 ccaggattcc cacctcctag tgaatccaga gttgtagtaa agcctaactg ctgcaa
//
LOCUS       NM_001037331            1834 bp    mRNA    linear   PRI 27-JAN-2023
DEFINITION  Homo sapiens small integral membrane protein 21 (SMIM21), transcript
            variant 1, mRNA.
ACCESSION   NM_001037331
VERSION     NM_001037331.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1834)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1834)
  AUTHORS   Bossini-Castillo L, de Kovel C, Kallberg H, van 't Slot R,
            Italiaander A, Coenen M, Tak PP, Posthumus MD, Wijmenga C, Huizinga
            T, van der Helm-van Mil AH, Stoeken-Rijsbergen G,
            Rodriguez-Rodriguez L, Balsa A, Gonzalez-Alvaro I, Gonzalez-Gay MA,
            Gomez-Vaquero C, Franke B, Vermeulen S, van der Horst-Bruinsma Ie,
            Dijkmans BA, Wolbink GJ, Ophoff RA, Maehlen MT, van Riel P, Merriman
            M, Klareskog L, Lie BA, Merriman T, Crusius JB, Brouwer E, Martin J,
            de Vries N, Toes R, Padyukov L and Koeleman BP.
  CONSRTM   LifeLines Cohort Study
  TITLE     A genome-wide association study of rheumatoid arthritis without
            antibodies against citrullinated peptides
  JOURNAL   Ann Rheum Dis 74 (3), e15 (2015)
   PUBMED   24532677
REFERENCE   3  (bases 1 to 1834)
  AUTHORS   Daviss WB, O'Donnell L, Soileau BT, Heard P, Carter E, Pliszka SR,
            Gelfond JA, Hale DE and Cody JD.
  TITLE     Mood disorders in individuals with distal 18q deletions
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 162B (8), 879-888 (2013)
   PUBMED   24006251
REFERENCE   4  (bases 1 to 1834)
  AUTHORS   Mark PR, Radlinski BC, Core N, Fryer A, Kirk EP and Haldeman-Englert
            CR.
  TITLE     Narrowing the critical region for congenital vertical talus in
            patients with interstitial 18q deletions
  JOURNAL   Am J Med Genet A 161A (5), 1117-1121 (2013)
   PUBMED   23495172
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK093452.1, BC107486.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000579022.5/ ENSP00000462106.1
            RefSeq Select criteria :: based on manual assertion, expression,
            longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK093452.1 and AC116003.7.
            On Jan 7, 2015 this sequence version replaced NM_001037331.2.
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the longer isoform (1).
FEATURES             Location/Qualifiers
     source          1..1834
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q23"
     gene            1..1834
                     /gene="SMIM21"
                     /gene_synonym="C18orf62"
                     /note="small integral membrane protein 21"
                     /db_xref="GeneID:284274"
                     /db_xref="HGNC:HGNC:27598"
     CDS             141..446
                     /gene="SMIM21"
                     /gene_synonym="C18orf62"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="small integral membrane protein 21 isoform 1"
                     /protein_id="NP_001032408.1"
                     /db_xref="CCDS:CCDS32845.1"
                     /db_xref="GeneID:284274"
                     /db_xref="HGNC:HGNC:27598"
                     /translation="MDQYVSTAPPRFPIAQLGTFKQDSAGMGRIFKGNLLQKKALTTFE
                     NEHHIRFFTLLVLFHVMVLLRNHSRIQGVSEDWKRANSIFRNFLRLKSSRNTAEAE"
     misc_feature    285..335
                     /gene="SMIM21"
                     /gene_synonym="C18orf62"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3B7S5.1);
                     transmembrane region"
ORIGIN
        1 aatacccaga tcttcaaggt tggcaaagaa gagaaaagct ccttgggaac ttagttacca
       61 ggtcttatag caccagctct gtgtcctcag agtcgctgtc atcaaggaga cctctcactg
      121 gtcaccgccg cagcccccac atggaccagt atgtgtccac agctcctccc cgattcccta
      181 tagcacagct gggaacattt aaacaagact ctgcaggaat gggacggata ttcaagggga
      241 atttgctgca gaagaaagca cttaccacat ttgaaaatga acaccatatt cgtttcttca
      301 cattgttggt tcttttccat gtgatggtgt tgctgaggaa tcatagcagg atacaagggg
      361 tttctgaaga ctggaaaagg gccaacagca tatttcgaaa ctttctacgt ttgaagtcat
      421 ccaggaacac agcagaagca gaataaatga cactacgttt ctctctcatg gccttcatac
      481 catggatttc ccctgctcaa gatgaaaaga aattaagagg aaatcagatt gcttagagat
      541 agcagattat tgctcacttt ttaaaaggag ctccacagag agaatgaaga acgtgtaact
      601 ttttgcaatg ataatgtctg ctttgttctt gaggggcact cttccttttt ctgttcagga
      661 atattccgga ggagagctgc agatgccacc caaccctgcg aaatctgccc tgcgtgtcga
      721 aacagatcca gcagtgcaaa gaacttcttc attaggacat caagcctgta gtcatatttt
      781 caattgctgc tgtaactttt tccttgcaag tgctttcact tatttcggga ccacctaagg
      841 ctctgtgtgg tatacagcaa cacagtttga gatatttctg tgatgttctg tatatcatat
      901 agttgctaac aacctgtcaa agtcatcctg acaccaaact gagaagctga tggtttgggt
      961 aacatattag aggagatgaa aaaaccgaca gtcctcatta ctgtaataaa accagcagag
     1021 acacactgag aatcaattac tgattgtgac ctaatgaact aaccctcagt caagtagaaa
     1081 actgcaccaa gcctcttaca ttatcaaatg atttaggatg gagcactgtc tgaagacggg
     1141 caacaagtcg aggcagatga gttttcttat attgtggctg acttaattac cttgttcctg
     1201 agtgcagaga tcaaattgag caacttaagg tgctaaagct ctgtgccagc tggaaatgaa
     1261 aaggaaataa ttaacaccaa caagagctac gtctaaggtt gtggcacctc ctgacagaag
     1321 caaggagact caaagttaag gcggctgcaa agtccttgac gaggtgagcc ctgctctatc
     1381 cgcctggctg gattcgtcca ggttgcctgt ggcagctgtg cactgaagag tccggctggg
     1441 gagccaggga ttcagaactc acagtgcagc ctgacgacca aagggcaaat ccacctgagg
     1501 acctgagtgc agatggctgg gctccccgga acaaagtgga ggaatgacag aggtgtaact
     1561 cttacaccac agcctccatc tgtgtgtcgc agagaaaaat actataatgg agactattct
     1621 tacacacata cacacacaca cacacacaca gagttcttgt caccgatgga acagtctgtc
     1681 tttgtctttc atctcccaca ttcatgtcca gatcccattg cgctgcatca cacgtgaacc
     1741 cagtgaggtc aacaatgaat ggatggtgtt cacaaagaaa ccagcttatg gaaggggacc
     1801 tgttacaatt ctttgaatta agttcttgga agcc
//
LOCUS       NM_001037333            6452 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2),
            transcript variant 1, mRNA.
ACCESSION   NM_001037333
VERSION     NM_001037333.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6452)
  AUTHORS   Biembengut IV, Shigunov P, Frota NF, Lourenzoni MR and de Souza
            TACB.
  TITLE     Molecular Dynamics of CYFIP2 Protein and Its R87C Variant Related to
            Early Infantile Epileptic Encephalopathy
  JOURNAL   Int J Mol Sci 23 (15), 8708 (2022)
   PUBMED   35955843
  REMARK    GeneRIF: Molecular Dynamics of CYFIP2 Protein and Its R87C Variant
            Related to Early Infantile Epileptic Encephalopathy. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 6452)
  AUTHORS   Li Y, Song X, Liu L and Yue L.
  TITLE     NUAK2 silencing inhibits the proliferation, migration and
            epithelial-to-mesenchymal transition of cervical cancer cells via
            upregulating CYFIP2
  JOURNAL   Mol Med Rep 24 (5) (2021)
   PUBMED   34558636
  REMARK    GeneRIF: NUAK2 silencing inhibits the proliferation, migration and
            epithelialtomesenchymal transition of cervical cancer cells via
            upregulating CYFIP2.
REFERENCE   3  (bases 1 to 6452)
  AUTHORS   Biembengut IV, Silva ILZ, Souza TACB and Shigunov P.
  TITLE     Cytoplasmic FMR1 interacting protein (CYFIP) family members and
            their function in neural development and disorders
  JOURNAL   Mol Biol Rep 48 (8), 6131-6143 (2021)
   PUBMED   34327661
  REMARK    GeneRIF: Cytoplasmic FMR1 interacting protein (CYFIP) family members
            and their function in neural development and disorders. Review
            article
REFERENCE   4  (bases 1 to 6452)
  AUTHORS   Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S,
            Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown KE, Bruel AL,
            Brunet T, Carneiro M, Cremer K, Day R, Denomme-Pichon AS, Dyment DA,
            Engels H, Fisher R, Goh ES, Hajianpour MJ, Haertel LRM, Hauer N,
            Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G,
            Mau-Them FT, McDermott JH, McWalter K, Meyer P, Ounap K, Popp B,
            Reimand T, Riedhammer KM, Russo M, Sadleir LG, Saenz M, Schiff M,
            Schuler E, Syrbe S, Van der Ven AT, Verloes A, Willems M, Zweier C,
            Steindl K, Zweier M and Rauch A.
  TITLE     New insights into the clinical and molecular spectrum of the novel
            CYFIP2-related neurodevelopmental disorder and impairment of the
            WRC-mediated actin dynamics
  JOURNAL   Genet Med 23 (3), 543-554 (2021)
   PUBMED   33149277
  REMARK    GeneRIF: New insights into the clinical and molecular spectrum of
            the novel CYFIP2-related neurodevelopmental disorder and impairment
            of the WRC-mediated actin dynamics.
REFERENCE   5  (bases 1 to 6452)
  AUTHORS   Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Banka S, Behring
            B, Berger A, Brown CW, Carneiro M, Chen J, Cooper GM, Finnila CR,
            Guillen Sacoto MJ, Henderson A, Huffmeier U, Joset P, Kerr B, Lesca
            G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R,
            Ounap K, Plecko B, Powis Z, Purcarin G, Reimand T, Riedhammer KM,
            Schreiber JM, Sirsi D, Wierenga KJ, Wojcik MH, Papuc SM, Steindl K,
            Sticht H and Rauch A.
  CONSRTM   Deciphering Developmental Disorders (DDD) Study
  TITLE     Spatially clustering de novo variants in CYFIP2, encoding the
            cytoplasmic FMRP interacting protein 2, cause intellectual
            disability and seizures
  JOURNAL   Eur J Hum Genet 27 (5), 747-759 (2019)
   PUBMED   30664714
  REMARK    GeneRIF: This study evidenced a variety of de novo variants in
            CYFIP2 as a novel cause of mostly severe intellectual disability
            with seizures and muscular hypotonia.
REFERENCE   6  (bases 1 to 6452)
  AUTHORS   Eden S, Rohatgi R, Podtelejnikov AV, Mann M and Kirschner MW.
  TITLE     Mechanism of regulation of WAVE1-induced actin nucleation by Rac1
            and Nck
  JOURNAL   Nature 418 (6899), 790-793 (2002)
   PUBMED   12181570
REFERENCE   7  (bases 1 to 6452)
  AUTHORS   Schenck A, Bardoni B, Moro A, Bagni C and Mandel JL.
  TITLE     A highly conserved protein family interacting with the fragile X
            mental retardation protein (FMRP) and displaying selective
            interactions with FMRP-related proteins FXR1P and FXR2P
  JOURNAL   Proc Natl Acad Sci U S A 98 (15), 8844-8849 (2001)
   PUBMED   11438699
REFERENCE   8  (bases 1 to 6452)
  AUTHORS   Saller E, Tom E, Brunori M, Otter M, Estreicher A, Mack DH and Iggo
            R.
  TITLE     Increased apoptosis induction by 121F mutant p53
  JOURNAL   EMBO J 18 (16), 4424-4437 (1999)
   PUBMED   10449408
REFERENCE   9  (bases 1 to 6452)
  AUTHORS   Witke W, Podtelejnikov AV, Di Nardo A, Sutherland JD, Gurniak CB,
            Dotti C and Mann M.
  TITLE     In mouse brain profilin I and profilin II associate with regulators
            of the endocytic pathway and actin assembly
  JOURNAL   EMBO J 17 (4), 967-976 (1998)
   PUBMED   9463375
REFERENCE   10  (bases 1 to 6452)
  AUTHORS   Kitamura T, Kitamura Y, Yonezawa K, Totty NF, Gout I, Hara K,
            Waterfield MD, Sakaue M, Ogawa W and Kasuga M.
  TITLE     Molecular cloning of p125Nap1, a protein that associates with an SH3
            domain of Nck
  JOURNAL   Biochem Biophys Res Commun 219 (2), 509-514 (1996)
   PUBMED   8605018
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.158742.1,
            SRR1660805.48154.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000620254.5/ ENSP00000479968.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG699081.1, BC011762.1, AL136549.1 and AC008676.6.
            On Nov 23, 2018 this sequence version replaced NM_001037333.2.
            Transcript Variant: This variant (1) and variant 2 encode the same
            isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6452
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.3"
     gene            1..6452
                     /gene="CYFIP2"
                     /gene_synonym="DEE65; EIEE65; PIR121"
                     /note="cytoplasmic FMR1 interacting protein 2"
                     /db_xref="GeneID:26999"
                     /db_xref="HGNC:HGNC:13760"
                     /db_xref="MIM:606323"
     CDS             97..3858
                     /gene="CYFIP2"
                     /gene_synonym="DEE65; EIEE65; PIR121"
                     /note="isoform a is encoded by transcript variant 1;
                     p53-inducible protein 121"
                     /codon_start=1
                     /product="cytoplasmic FMR1-interacting protein 2 isoform a"
                     /protein_id="NP_001032410.1"
                     /db_xref="CCDS:CCDS75364.1"
                     /db_xref="GeneID:26999"
                     /db_xref="HGNC:HGNC:13760"
                     /db_xref="MIM:606323"
                     /translation="MTTHVTLEDALSNVDLLEELPLPDQQPCIEPPPSSIMYQANFDTN
                     FEDRNAFVTGIARYIEQATVHSSMNEMLEEGHEYAVMLYTWRSCSRAIPQVKCNEQPNR
                     VEIYEKTVEVLEPEVTKLMKFMYFQRKAIERFCSEVKRLCHAERRKDFVSEAYLLTLGK
                     FINMFAVLDELKNMKCSVKNDHSAYKRAAQFLRKMADPQSIQESQNLSMFLANHNRITQ
                     CLHQQLEVIPGYEELLADIVNICVDYYENKMYLTPSEKHMLLKVMGFGLYLMDGNVSNI
                     YKLDAKKRINLSKIDKFFKQLQVVPLFGDMQIELARYIKTSAHYEENKSKWTCTQSSIS
                     PQYNICEQMVQIRDDHIRFISELARYSNSEVVTGSGLDSQKSDEEYRELFDLALRGLQL
                     LSKWSAHVMEVYSWKLVHPTDKFCNKDCPGTAEEYERATRYNYTSEEKFAFVEVIAMIK
                     GLQVLMGRMESVFNQAIRNTIYAALQDFAQVTLREPLRQAVRKKKNVLISVLQAIRKTI
                     CDWEGGREPPNDPCLRGEKDPKGGFDIKVPRRAVGPSSTQLYMVRTMLESLIADKSGSK
                     KTLRSSLDGPIVLAIEDFHKQSFFFTHLLNISEALQQCCDLSQLWFREFFLELTMGRRI
                     QFPIEMSMPWILTDHILETKEPSMMEYVLYPLDLYNDSAYYALTKFKKQFLYDEIEAEV
                     NLCFDQFVYKLADQIFAYYKAMAGSVLLDKRFRAECKNYGVIIPYPPSNRYETLLKQRH
                     VQLLGRSIDLNRLITQRISAAMYKSLDQAISRFESEDLTSIVELEWLLEINRLTHRLLC
                     KHMTLDSFDAMFREANHNVSAPYGRITLHVFWELNFDFLPNYCYNGSTNRFVRTAIPFT
                     QEPQRDKPANVQPYYLYGSKPLNIAYSHIYSSYRNFVGPPHFKTICRLLGYQGIAVVME
                     ELLKIVKSLLQGTILQYVKTLIEVMPKICRLPRHEYGSPGILEFFHHQLKDIIEYAELK
                     TDVFQSLREVGNAILFCLLIEQALSQEEVCDLLHAAPFQNILPRVYIKEGERLEVRMKR
                     LEAKYAPLHLVPLIERLGTPQQIAIAREGDLLTKERLCCGLSMFEVILTRIRSYLQDPI
                     WRGPPPTNGVMHVDECVEFHRLWSAMQFVYCIPVGTNEFTAEQCFGDGLNWAGCSIIVL
                     LGQQRRFDLFDFCYHLLKVQRQDGKDEIIKNVPLKKMADRIRKYQILNNEVFAILNKYM
                     KSVETDSSTVEHVRCFQPPIHQSLATTC"
     misc_feature    3205..3207
                     /gene="CYFIP2"
                     /gene_synonym="DEE65; EIEE65; PIR121"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q96F07.2); acetylation site"
     regulatory      6423..6428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYFIP2"
                     /gene_synonym="DEE65; EIEE65; PIR121"
                     /note="hexamer: ATTAAA"
     polyA_site      6452
                     /gene="CYFIP2"
                     /gene_synonym="DEE65; EIEE65; PIR121"
                     /note="major polyA site"
ORIGIN
        1 agagcatcct gcgccccggc gcggggccct gcggtagcct caggcccctc ccctggaccc
       61 gccgcagagc cagtgcagaa tacagaaact gcagccatga ccacgcacgt caccctggaa
      121 gatgccctgt ccaacgtgga cctgcttgaa gagcttcccc tccccgacca gcagccatgc
      181 atcgagcctc caccttcctc catcatgtac caggctaact ttgacacaaa ctttgaggac
      241 aggaatgcat ttgtcacggg cattgcaagg tacattgagc aggctacagt ccactccagc
      301 atgaatgaga tgctggagga aggacatgag tatgcggtca tgctgtacac ctggcgcagc
      361 tgttcccggg ccattcccca ggtgaaatgc aacgagcagc ccaaccgagt agagatctat
      421 gagaagacag tagaggtgct ggagccggag gtcaccaagc tcatgaagtt catgtatttt
      481 cagcgcaagg ccatcgagcg gttctgcagc gaggtgaagc ggctgtgcca tgccgagcgc
      541 aggaaggact ttgtctctga ggcctacctc ctgacccttg gcaagttcat caacatgttt
      601 gctgtcctgg atgagctaaa gaacatgaag tgcagcgtca agaatgacca ctctgcctac
      661 aagagggcag cacagttcct gcggaagatg gcagatcccc agtctatcca ggagtcgcag
      721 aacctttcca tgttcctggc caaccacaac aggatcaccc agtgtctcca ccagcaactt
      781 gaagtgatcc caggctatga ggagctgctg gctgacattg tcaacatctg tgtggattac
      841 tacgagaaca agatgtacct gactcccagt gagaaacata tgctcctcaa ggtgatgggc
      901 tttggcctct acctaatgga tggaaatgtc agtaacattt acaaactgga tgccaagaag
      961 agaattaatc ttagcaaaat tgataaattc tttaagcagc tgcaggtggt gccccttttc
     1021 ggcgacatgc agatagagct ggccagatac attaagacca gtgctcacta tgaagagaac
     1081 aagtccaagt ggacgtgcac ccagagcagc atcagccccc agtacaatat ctgcgagcag
     1141 atggttcaga tccgggatga ccacatccgc ttcatctccg agctcgctcg ctacagcaac
     1201 agtgaggtgg tgacgggctc agggctggac agccagaagt cagacgagga gtatcgcgag
     1261 ctcttcgacc tagccctgcg gggtctgcag cttctatcca agtggagcgc ccacgtcatg
     1321 gaggtgtact cttggaagct ggttcatccc acagacaagt tctgcaacaa ggactgtcct
     1381 ggcaccgcgg aggaatatga gagagccaca cgctacaatt acaccagtga ggaaaaattt
     1441 gccttcgttg aggtgatcgc catgatcaaa ggcctgcagg tgctcatggg caggatggag
     1501 agcgtcttca accaggccat caggaacacc atctacgcgg cattgcagga cttcgcccag
     1561 gtgacgctgc gtgagcccct gcggcaggcg gtacggaaga agaagaatgt cctcatcagc
     1621 gtcctacagg caattcgaaa gaccatctgt gactgggagg gagggcgaga gccccctaat
     1681 gacccatgct tgagagggga gaaggacccc aaaggtggat ttgatatcaa ggtgccccgg
     1741 cgtgctgtgg ggccatccag cacacagctg tacatggtgc ggaccatgct tgaatcactc
     1801 attgcagaca aaagcggctc caagaagacc ctgaggagca gcctggatgg acccattgtc
     1861 ctcgccatag aggactttca caaacagtcc ttcttcttca cacatctgct caacatcagt
     1921 gaagccctgc agcagtgttg tgacctctcc cagctctggt tccgagaatt cttcctggag
     1981 ttaaccatgg gccgacgaat ccagttcccc atcgagatgt ccatgccctg gattctaacg
     2041 gaccatatcc tggaaaccaa agaaccttcc atgatggagt atgtcctcta ccctctggat
     2101 ctgtacaacg acagcgccta ctatgctctg accaagttta aaaagcagtt cctgtacgat
     2161 gagatagaag ctgaggtgaa cctgtgtttt gatcagtttg tctacaagct ggcagaccag
     2221 atctttgctt actacaaagc catggctggc agtgtcctgt tggataaacg ttttcgagct
     2281 gagtgtaaga attatggcgt catcattccg tatccaccgt ccaatcgcta tgaaacactg
     2341 ctgaagcaga gacacgtcca gctgttgggt agatcaattg acttgaacag actcattacc
     2401 cagcgcatct ctgccgccat gtataaatcc ttggaccaag ctatcagccg ctttgagagt
     2461 gaggacctga cctccattgt ggagctggag tggctgctgg agattaaccg gctcacgcat
     2521 cggctgctct gtaagcatat gacgctggac agcttcgatg ccatgttccg agaggccaat
     2581 cacaatgtgt ccgcccccta tggccgtatc accctgcatg tcttctggga actgaacttt
     2641 gactttctcc ccaactactg ctacaatggg tccactaacc gttttgtgcg gactgccatt
     2701 cctttcaccc aagaaccaca acgagacaaa cctgccaacg tccagcctta ttacctctat
     2761 ggatccaagc ctctcaacat tgcctacagc cacatctaca gctcctacag gaatttcgtg
     2821 gggccacctc atttcaagac tatctgcaga ctcctgggtt atcagggcat cgctgtggtc
     2881 atggaggaac tgctaaagat tgtgaagagc ttgctccaag gaaccattct ccagtatgtg
     2941 aaaacactga tagaggtgat gcccaagata tgccgcttgc cccgacatga gtatggctcc
     3001 ccagggatcc tggagttctt ccaccaccag ctgaaggaca tcattgagta cgcagagctc
     3061 aaaacagacg tgttccagag cctgagggaa gtgggcaatg ccatcctctt ctgcctcctc
     3121 atagagcaag ctctgtctca ggaggaggtc tgcgatttgc tccatgccgc acccttccaa
     3181 aacatcttgc ctagagtcta catcaaagag ggggagcgcc tggaggtccg gatgaaacgt
     3241 ctggaagcca agtatgcccc gctccacctg gtccctctga tcgagcggct ggggacccct
     3301 cagcaaatcg ccattgctcg cgagggtgac ctcctgacca aggagcggct gtgctgtggc
     3361 ctgtccatgt tcgaggtcat cctgacccgc attcggagct acctgcagga ccccatctgg
     3421 cggggcccac cgcccaccaa tggcgtcatg cacgtcgatg agtgtgtgga gttccaccgg
     3481 ctgtggagcg ccatgcagtt cgtgtactgc atccctgtgg gaaccaacga gttcacagct
     3541 gagcagtgtt tcggcgatgg cttgaactgg gctggttgct ccatcattgt cctgctgggc
     3601 cagcagcgtc gctttgacct gttcgacttc tgttaccacc tgctaaaagt gcagaggcag
     3661 gacgggaagg atgaaatcat taagaatgtg cccctgaaga agatggccga ccggatcagg
     3721 aagtatcaga tcttgaacaa tgaggttttt gccatcctga acaaatacat gaagtccgtg
     3781 gagacagaca gttccactgt ggagcatgtg cgctgcttcc agccacccat ccaccagtcc
     3841 ttggccacca cttgctaagc agaagatcct gcagaccctt atctggagga ggaagagaag
     3901 caggagagag aaagccacag ccagcctgcc ataggatcca actggacaac gtgtgggatg
     3961 gacctggaaa caagcacctc cccaaacaca tcaccactcc ctagggcggg gcctgtgcat
     4021 gctctcccat gacatctcca tgctggtttc tccatagcat aaatgaaaaa aaaaaaaaaa
     4081 aagtaaacag ggcagtgtgt gctttttctt ttctcccccc tcaactatat taagaactcc
     4141 tagtttcacc ctttctccat cccatcatcc cacctatctg tggttgcttc ccaagacctc
     4201 ctcccaagat agacatctcc tacccagtgc ccttgtgtga ccccaggact caagtctcag
     4261 actgtgaaca gatgtggcca tgcccagaga cgccagcctg gccagaaggg catgcctcag
     4321 cttactactt catctctcct ggttccctcc ctgcagtgcc ccgggtgtca tcttctccca
     4381 ctctgggtac cagggattct accacatagg cttcccaaag ccccattcta actcccctct
     4441 ctcagggaag ccctagagag aggtccaaaa agcattcaca gctgtatcac actctatgca
     4501 ggtggggtag gagactgatc aggcctgctg tggggaagca gtatgtatga acacagccag
     4561 aaatgtcata gtccaaacag gatgctttca ggccatctca gctgcttgat ggtgagatgg
     4621 ttcccttatt ccttcaggaa aggcttagca ttgggccaca taggggaagc agctttgaac
     4681 aaatcagtca tagcactgcc tatagcatta gccagtgacc aaattaggga caacgtcttg
     4741 gcacagaatt gcttatcaag gaacatttcc acaagaaaga aaatattaag gggttatttc
     4801 cacagaagcc caaaacgtct tggaaacaca gaggtgagga ggaggaatag taattgtcaa
     4861 tgagctttta ataccaagat acaccccctg cccccaaaga agagtcctct tttagggaat
     4921 cagaaccttc attgtcctag aagctgaaag attcttggaa cattttagct tttactctca
     4981 acttgctgtt ctctttacat tccttaagtt agactttcgg gtgtggcttc tctcccaggg
     5041 gtaacattta cttccatttt ctagactgaa ccaaaagtct tctgcagaat ctcccaccga
     5101 gtgtggtaag aaggaaggac aaaaggcttt aggatataaa tttcatgtta cagagcatgt
     5161 cattgtcaaa ggaaatctgt ggccctgaga ttttaagaac ataaaatgtg acatttgata
     5221 tttctccagc ccagggaagt aagatggtta gcaatggttg ccttaatcaa atggtcccat
     5281 ttttaacccc aaaggaagtg cccacagcaa gaggtttgtg tgatgcactt atgtcctccg
     5341 gtgaggaaag ggggccacat atgaaaggcc ccttaggtca gatcctgaga gtagcacatt
     5401 tgagtgcaga ttcctgggcc ccacctcaaa cctactaatt ctgaatctct gggaataggg
     5461 ccaggaaatc tgccctttct acaaactacc caagttgttc tgttgcacat caatgtttgg
     5521 gaaccactgc tgtaagggaa tcattctggt caccttgagc tttgagctac cactaagcca
     5581 tgaaagaaaa tacatcatac agggaagaga gaagggagga ggttccaagt agtaactggc
     5641 agatcctcct gtctggaggt accaccttct attctggttt ctgacttttc cttcttgatg
     5701 accatagatg tgttccagag gcaaaagaga cacattatcc cagatggcag aacatgcttt
     5761 caaaacatat aaaatgtcaa agttccagat ccttctacat ctttagtcct gtctgaggat
     5821 ggtagctggc tctctgtagc tgatagatgg ctagagttcc atccaaatcc ttgaccacga
     5881 cttcatggag atttgaataa tctatttgat gagatttcta tttcaataac ccacctctct
     5941 caccccacat tcatatccct aaatttgacc ctctgggccg agtcacatta ccttcaggag
     6001 acttgatccc agtagactga ggtcttccct ttcagcagaa agatttcatt tccctggctt
     6061 gccagtggca ctgatttccg aacacccaat gagtttaata ttctttcctc cttggcatta
     6121 ctgccccagc ctctttttat tttttttgtg tgtgtctaat aaccaggaaa aaaataaagc
     6181 ttaggtttta aaaagtttta aaaataatct gtttcagaaa ctgtcaaatg taccatattt
     6241 gtattaagag ttgttgggaa tttttgtaca atgaatttac atttatttat ggtgacatat
     6301 ttacgcttgt gatcaaataa tgatgttaaa ttcttaaatc atatttgcta tgcagctgaa
     6361 gatgatattt tgatttgtat tttgggggta cctgtgttga gttgataaac atttccatct
     6421 tcattaaaac tgcttccaaa ctagtaaaac ca
//
LOCUS       NM_001037335           10002 bp    mRNA    linear   PRI 04-MAR-2023
DEFINITION  Homo sapiens helicase with zinc finger 2 (HELZ2), transcript variant
            1, mRNA.
ACCESSION   NM_001037335
VERSION     NM_001037335.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10002)
  AUTHORS   Luqman-Fatah A, Watanabe Y, Uno K, Ishikawa F, Moran JV and Miyoshi
            T.
  TITLE     The interferon stimulated gene-encoded protein HELZ2 inhibits human
            LINE-1 retrotransposition and LINE-1 RNA-mediated type I interferon
            induction
  JOURNAL   Nat Commun 14 (1), 203 (2023)
   PUBMED   36639706
  REMARK    GeneRIF: The interferon stimulated gene-encoded protein HELZ2
            inhibits human LINE-1 retrotransposition and LINE-1 RNA-mediated
            type I interferon induction. Erratum:[Nat Commun. 2023 Jan
            30;14(1):493. PMID: 36717557] Publication Status: Online-Only
REFERENCE   2  (bases 1 to 10002)
  AUTHORS   Dai H, Zeng W, Zeng W, Yan M, Jiang P, Li Y, Zhang W and Ke M.
  TITLE     HELZ2 promotes K63-linked polyubiquitination of c-Myc to induce
            retinoblastoma tumorigenesis
  JOURNAL   Med Oncol 39 (1), 11 (2021)
   PUBMED   34761308
  REMARK    GeneRIF: HELZ2 promotes K63-linked polyubiquitination of c-Myc to
            induce retinoblastoma tumorigenesis. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 10002)
  AUTHORS   Katano-Toki A, Satoh T, Tomaru T, Yoshino S, Ishizuka T, Ishii S,
            Ozawa A, Shibusawa N, Tsuchiya T, Saito T, Shimizu H, Hashimoto K,
            Okada S, Yamada M and Mori M.
  TITLE     THRAP3 interacts with HELZ2 and plays a novel role in adipocyte
            differentiation
  JOURNAL   Mol Endocrinol 27 (5), 769-780 (2013)
   PUBMED   23525231
  REMARK    GeneRIF: Thrap3 could play indispensable roles in terminal
            differentiation of adipocytes by enhancing PPARgamma-mediated gene
            activation cooperatively with Helz2.
REFERENCE   4  (bases 1 to 10002)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   5  (bases 1 to 10002)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein C,
            Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   6  (bases 1 to 10002)
  AUTHORS   Fairfax BP, Makino S, Radhakrishnan J, Plant K, Leslie S, Dilthey A,
            Ellis P, Langford C, Vannberg FO and Knight JC.
  TITLE     Genetics of gene expression in primary immune cells identifies cell
            type-specific master regulators and roles of HLA alleles
  JOURNAL   Nat Genet 44 (5), 502-510 (2012)
   PUBMED   22446964
  REMARK    GeneRIF: Genetic polymorphisms in PRIC285 gene is associated with
            autoimmune disease. Publication Status: Online-Only
REFERENCE   7  (bases 1 to 10002)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   8  (bases 1 to 10002)
  AUTHORS   Tomaru T, Satoh T, Yoshino S, Ishizuka T, Hashimoto K, Monden T,
            Yamada M and Mori M.
  TITLE     Isolation and characterization of a transcriptional cofactor and its
            novel isoform that bind the deoxyribonucleic acid-binding domain of
            peroxisome proliferator-activated receptor-gamma
  JOURNAL   Endocrinology 147 (1), 377-388 (2006)
   PUBMED   16239304
REFERENCE   9  (bases 1 to 10002)
  AUTHORS   Surapureddi S, Yu S, Bu H, Hashimoto T, Yeldandi AV, Kashireddy P,
            Cherkaoui-Malki M, Qi C, Zhu YJ, Rao MS and Reddy JK.
  TITLE     Identification of a transcriptionally active peroxisome
            proliferator-activated receptor alpha -interacting cofactor complex
            in rat liver and characterization of PRIC285 as a coactivator
  JOURNAL   Proc Natl Acad Sci U S A 99 (18), 11836-11841 (2002)
   PUBMED   12189208
REFERENCE   10  (bases 1 to 10002)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN,
            Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden
            JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM,
            Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor
            S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh
            VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry
            D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R,
            Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay
            H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce
            CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore
            N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC,
            Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL,
            Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM,
            Bentley DR, Beck S and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     ##Evidence-Data-START##
            CDS exon combination      :: AB201715.1 [ECO:0000331]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000467148.2/ ENSP00000417401.1
            RefSeq Select criteria    :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121829.30, AB201715.1 and
            AK074171.1.
            On Aug 17, 2007 this sequence version replaced NM_001037335.1.
            Summary: The protein encoded by this gene is a nuclear
            transcriptional co-activator for peroxisome proliferator activated
            receptor alpha. The encoded protein contains a zinc finger and is a
            helicase that appears to be part of the peroxisome proliferator
            activated receptor alpha interacting complex. This gene is a member
            of the DNA2/NAM7 helicase gene family. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..10002
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.33"
     gene            1..10002
                     /gene="HELZ2"
                     /gene_synonym="PDIP-1; PRIC285"
                     /note="helicase with zinc finger 2"
                     /db_xref="GeneID:85441"
                     /db_xref="HGNC:HGNC:30021"
                     /db_xref="MIM:611265"
     misc_feature    101..103
                     /gene="HELZ2"
                     /gene_synonym="PDIP-1; PRIC285"
                     /note="upstream in-frame stop codon"
     CDS             893..8842
                     /gene="HELZ2"
                     /gene_synonym="PDIP-1; PRIC285"
                     /note="isoform 1 is encoded by transcript variant 1; PPAR
                     gamma DBD-interacting protein 1; PPARgamma-DNA-binding
                     domain-interacting protein1; helicase with zinc finger 2,
                     transcriptional coactivator; peroxisomal
                     proliferator-activated receptor A-interacting complex 285
                     kDa protein; peroxisomal proliferator-activated receptor
                     alpha-interacting cofactor complex, 285 kD subunit; PRIC
                     complex; PDIP1; ATP-dependent helicase PRIC285;
                     PPAR-alpha-interacting complex protein 285; PPAR-gamma
                     DNA-binding domain-interacting protein 1; peroxisomal
                     proliferator-activated receptor A interacting complex 285;
                     PPARG-DBD-interacting protein 1; helicase with zinc finger
                     domain 2"
                     /codon_start=1
                     /product="helicase with zinc finger domain 2 isoform 1"
                     /protein_id="NP_001032412.2"
                     /db_xref="CCDS:CCDS33508.1"
                     /db_xref="GeneID:85441"
                     /db_xref="HGNC:HGNC:30021"
                     /db_xref="MIM:611265"
                     /translation="MAVWEAEQLGGLQRGDLLTPPAPDGDGRTAPLGQPPGAQLYCPAC
                     LVTCHSQEAFENHCASSEHAQMVAFDQALPWEHRSPPPGLSKFELCPKPDLCEYGDACT
                     KAHSAQELQEWVRRTQAVELRGQAAWQDGLVPYQERLLAEYQRSSSEVLVLAETLDGVR
                     VTCNQPLMYQAQERKTQYSWTFAVHSEEPLLHVALLKQEPGADFSLVAPGLPPGRLYAR
                     GERFRVPSSTADFQVGVRVQAASFGTFEQWVVFDFGRRPVLLQKLGLQLGQGRRPGPCR
                     NLALGHPEEMERWHTGNRHVVPGVERTAEQTALMAKYKGPALALEFNRSSVASGPISPT
                     NYRQRMHQFLYEEEAAQQQLVAKLTLRGQVFLKTALQTPALNMLFAPPGALYAEVPVPS
                     SLMPDTDQGFLLGRAVSTALVAPVPAPDNTVFEVRLERRASSEQALWLLLPARCCLALG
                     LQPEARLVLEVQFQIDPMTFRLWHQAVDTLPEEQLVVPDLPTCALPRPWSVPPLRRGNR
                     KQELAVALIAGWGPGDGRRVPPLLIYGPFGTGKTYTLAMASLEVIRRPETKVLICTHTN
                     SAADIYIREYFHSHVSGGHPEATPLRVMYTDRPLSQTDPVTLQYCCLTDDRQAFRPPTR
                     AELARHRVVVTTTSQARELRVPVGFFSHILIDEAAQMLECEALTPLAYASHGTRLVLAG
                     DHMQVTPRLFSVARARAAEHTLLHRLFLCYQQETHEVARQSRLVFHENYRCTDAIVSFI
                     SRHFYVAKGNPIHARGKVPPHPRHYPLMFCHVAGSPDRDMSMASWLNLAEIAQVVEKVQ
                     EAYNTWPSCWGGREQRCICVVSHGAQVSALRQELRRRDLGQVSVGSFEILPGRQFRVVV
                     LSTVHTCQSLLSPGALAPEFFTDARVLNTVLTRAQSQLVVVGDAVALCSFGACGKLWES
                     FIRECVERHSVCPEGLSMEQVEQGVAQRRRWPPRGTQAGAAGNWEAAPEPVGDLAEEQA
                     AVVTAMVKAEPGDEALSPASRDITATTAQTEAAAAPAGDAVKEDVVPGACAAGAAAAAG
                     VESTEAEDAEADFWPWDGELNADDAILRELLDESQKVMVTVGEDGLLDTVARPESLQQA
                     RLYENLPPAALRKLLHAEPERYRHCSFVPETFERASAIPLDDASSGPIQVRGRLDCGMA
                     FAGDEVLVQLLSGDKAPEGRLRGRVLGVLKRKRHELAFVCRMDTWDPRIMVPINGSVTK
                     IFVAELKDPSQVPIYSLRKGRLQRVGLERLTAEARHSRLFWVQIVLWRQGFYYPLGIVR
                     EVLPEASTWEQGLRILGLEYSLRVPPSDQATITKVLQKYHTELGRVAGRREDCRAFLTF
                     TVDPQGACNLDDALSVRDLGPRCEVAVHITDVASFVPRDGVLDVEARRQGAAFYAPGRE
                     PVPMLPASLCQDVLSLLPGRDRLAISLFLTMEKASGQLKSLRFAPSVVQSDRQLSYEEA
                     EEVIRQHPGAGRELPARLDSVDACVVAACYFSRLLRRHRLRSDCFYEQPDEDGTLGFRA
                     AHIMVKEYMIQFNRLVAEFLVGSECTRTVTPLRWQPAPRSQQLKALCEKHGDRVPLSLH
                     LGHHLHGGGGSPPDTRLHLLASLWKQVQFAARTQDYEQMVDLVTTDDMHPFLAPAGRDL
                     RKALERSAFGRCARGHQQQGGHYSLQVDWYTWATSPIRRYLDVVLQRQILLALGHGGSA
                     YSARDIDGLCQAFSLQHALAQSYQRRARSLHLAVQLKAQPLDKLGFVVDVEAGSRCFRL
                     LFPSNRETLPDPCPVPYGSLQLAEHPHALAGRPGLRLLWRRRVYSAQGSSPPLPLPGTV
                     PDPHTLAVETALWKQLLELVELQRWPEAAALIQEKGEASQRRELVQVQRSHCGHFLEVA
                     RELGSGDTLQVQLGTSLQHGFLVPSPQLWTVAPGFSLCLEHVERPGDCFSGRVYRAPRD
                     RYRDVDEYACVWEPFCALESATGAVAENDSVTLQHLSVSWEASRTPQGQLQGAFRLEAA
                     FLEENCADINFSCCYLCIRLEGLPAPTASPRPGPSSLGPGLNVDPGTYTWVAHGQTQDW
                     DQERRADRQEAPRRVHLFVHHMGMEKVPEEVLRPGTLFTVELLPKQLPDLRKEEAVRGL
                     EEASPLVTSIALGRPVPQPLCRVIPSRFLERQTYNIPGGRHKLNPSQNVAVREALEKPF
                     TVIQGPPGTGKTIVGLHIVFWFHKSNQEQVQPGGPPRGEKRLGGPCILYCGPSNKSVDV
                     LAGLLLRRMELKPLRVYSEQAEASEFPVPRVGSRKLLRKSPREGRPNQSLRSITLHHRI
                     RQAPNPYSSEIKAFDTRLQRGELFSREDLVWYKKVLWEARKFELDRHEVILCTCSCAAS
                     ASLKILDVRQILVDEAGMATEPETLIPLVQFPQAEKVVLLGDHKQLRPVVKNERLQNLG
                     LDRSLFERYHEDAHMLDTQYRMHEGICAFPSVAFYKSKLKTWQGLRRPPSVLGHAGKES
                     CPVIFGHVQGHERSLLVSTDEGNENSKANLEEVAEVVRITKQLTLGRTVEPQDIAVLTP
                     YNAQASEISKALRREGIAGVAVSSITKSQGSEWRYVLVSTVRTCAKSDLDQRPTKSWLK
                     KFLGFVVDPNQVNVAVTRAQEGLCLIGDHLLLRCCPLWRSLLDFCEAQQTLVPAGQVRV
                     CRRPTMPS"
     misc_feature    917..988
                     /gene="HELZ2"
                     /gene_synonym="PDIP-1; PRIC285"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYK8.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2579..4069
                     /gene="HELZ2"
                     /gene_synonym="PDIP-1; PRIC285"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYK8.6);
                     Region: Interaction with THRAP3.
                     /evidence=ECO:0000269|PubMed:23525231"
     misc_feature    2891..2902
                     /gene="HELZ2"
                     /gene_synonym="PDIP-1; PRIC285"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYK8.6);
                     Region: DEAA box"
     misc_feature    3908..3910
                     /gene="HELZ2"
                     /gene_synonym="PDIP-1; PRIC285"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BYK8.6); phosphorylation site"
     misc_feature    4115..4129
                     /gene="HELZ2"
                     /gene_synonym="PDIP-1; PRIC285"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYK8.6);
                     Region: LXXLL motif 1"
     misc_feature    4244..4258
                     /gene="HELZ2"
                     /gene_synonym="PDIP-1; PRIC285"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYK8.6);
                     Region: LXXLL motif 2"
     misc_feature    4409..4423
                     /gene="HELZ2"
                     /gene_synonym="PDIP-1; PRIC285"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYK8.6);
                     Region: LXXLL motif 3"
     misc_feature    6926..6940
                     /gene="HELZ2"
                     /gene_synonym="PDIP-1; PRIC285"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYK8.6);
                     Region: LXXLL motif 4"
     misc_feature    7295..8839
                     /gene="HELZ2"
                     /gene_synonym="PDIP-1; PRIC285"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYK8.6);
                     Region: Interaction with THRAP3.
                     /evidence=ECO:0000269|PubMed:23525231"
     misc_feature    7577..7591
                     /gene="HELZ2"
                     /gene_synonym="PDIP-1; PRIC285"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYK8.6);
                     Region: LXXLL motif 5"
     regulatory      9975..9980
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HELZ2"
                     /gene_synonym="PDIP-1; PRIC285"
                     /note="hexamer: GATAAA"
     polyA_site      9981
                     /gene="HELZ2"
                     /gene_synonym="PDIP-1; PRIC285"
                     /note="major polyA site"
     polyA_site      10002
                     /gene="HELZ2"
                     /gene_synonym="PDIP-1; PRIC285"
                     /note="major polyA site"
ORIGIN
        1 agaatcgaaa ctgagagctc ctgggcaggc tcggcagggc aggcagctcc aggagggctt
       61 cgaaccgtgg ccaacagttc cagtggactg cgtggacccg tgagctcagg agcctcagac
      121 gcctccctgg agagccaagc tggtgttcga ggtggcgcct ccagggtcca ccctgctgcc
      181 caacagcccc gcggccacca gagggccgtc cctggcccgg ctgtgtgccc tggtggacct
      241 gtgtctgggc tgctcccgct gcacccagcg gctcaatgaa agcacctacg tcctccgtag
      301 ggtggagcat gactgctccc gcgagatcct gctggcccgc tttaagcagg ccaccaagag
      361 caaggtctgg cgcgtggtgg gctgccggcc caccttccca aggcccctgt gctaccaagt
      421 ctgccactac tacagccctg ggctcggctg ccggcgccac cgaaaccggt gcacctttgc
      481 ccgcagtcgc gaggaggccc tggtctggac cttcgagcgt cagcacaacc tccagcgcct
      541 atggctgaag gcggaggtgc agggcagcgg ggcccaggga ggggcaggcc gggcggccga
      601 cgccatcctt acggagtttg gcggccgctt cgagctgctt tgctccctct gcttcaggcg
      661 ctgtccccca tgcatctgtc gcgtggaccc ccaggggcag tgccctgagc acggagcctg
      721 cccctccctc ctggcccacg tgagcgccga gggccgccgc aagcaacagt ttgtggtggt
      781 gaggccgcgg ccccgggccg gccagcctcc tgcctactgc aggtttgtgg ggcgtgggca
      841 gccgtgctgg cgtggggagt cccgctgcca gtttgcacac agcgccgtgg agatggctgt
      901 gtgggaggcc gagcagctgg gtggcctcca gcggggggac ctgctcacac cccctgcccc
      961 tgatggcgac gggcgcacgg ccccccttgg ccagccccct ggggcccagc tgtactgccc
     1021 ggcctgcttg gtcacctgcc actctcagga ggccttcgag aaccactgcg catcctcgga
     1081 gcacgcacag atggtggcct tcgaccaggc cctgccctgg gagcaccgtt ccccaccccc
     1141 gggactctcc aagttcgagc tctgcccaaa gcctgacctc tgtgagtatg gggacgcctg
     1201 caccaaggca cactcagcac aggagctgca ggagtgggtc cggcgcacgc aggctgtgga
     1261 gctgcggggg caggcggcct ggcaggacgg gctggtgccc taccaggagc ggctgctggc
     1321 cgagtaccag cgcagcagca gtgaggtcct tgtgctggca gagacccttg atggagtgcg
     1381 tgtcacctgc aaccagcccc tgatgtacca ggcccaggag aggaagaccc agtacagctg
     1441 gacgtttgcc gtccactctg aggagcccct gctacacgtg gccctgctga agcaggagcc
     1501 aggagccgac ttctctctgg tggctcccgg cctcccgcca ggccggctct acgcacgggg
     1561 tgagcgcttc cgtgtgccca gctccactgc cgacttccag gtgggagtgc gtgtgcaggc
     1621 tgcctcgttc ggcacctttg agcaatgggt ggtcttcgac tttggccgcc ggccggtgct
     1681 gctacaaaag ctggggctgc agctgggcca ggggcgtcgc ccaggaccct gcaggaatct
     1741 ggcgctcggc caccctgagg agatggagcg ctggcacact ggcaaccgcc acgtggtgcc
     1801 tggcgtggag cggacggccg agcagacggc cctgatggcc aagtacaagg gccctgccct
     1861 ggccctggag ttcaaccgca gcagcgtggc ctcgggcccc atctcaccaa ccaactatcg
     1921 gcagaggatg caccagtttc tctatgagga ggaggcggct cagcagcagc tggtggccaa
     1981 gctgaccctg cggggccagg tgttcctgaa gacggcattg cagacgccag cgctgaacat
     2041 gctcttcgcg cctccgggag cactgtacgc agaggtcccc gtcccctcct ccctgatgcc
     2101 agacacagac cagggcttcc tgctgggccg ggcggtcagc acagccctgg tggcccctgt
     2161 acctgcaccc gacaatacgg tgttcgaggt gcggctggag aggcgggcca gctcagagca
     2221 ggcgctgtgg ctgctgcttc cggcccgctg ctgcttggcc ctggggctgc agcctgaggc
     2281 ccgcctggtc ctggaggtgc agttccagat tgacccgatg accttccgcc tctggcacca
     2341 ggcagtggac acactgcctg aggagcagct ggtggtgccc gacttgccca cctgcgccct
     2401 gcccagacct tggtctgtcc cacccttgcg gcgtggcaac cgcaagcagg agctggccgt
     2461 ggcgctcatc gcgggctggg gccctgggga tgggaggcgt gtccccccgc tactcatcta
     2521 tggccccttt ggcaccggca agacctacac gctggccatg gcctccctgg aggtcatccg
     2581 gaggcctgaa accaaggtgc tcatctgcac acacaccaac agtgccgccg acatctacat
     2641 ccgggagtat ttccacagcc acgtcagcgg cggccacccc gaggccactc ctctccgtgt
     2701 gatgtacacg gaccggccgc tgagccagac ggacccagtc acgctgcagt actgttgcct
     2761 gaccgacgac cgccaggctt tccgcccgcc cacacgggca gagctggcgc ggcaccgcgt
     2821 ggtggtcacc accacctccc aggcccgtga gctcagggtg ccggtcggct tcttctccca
     2881 cattctcatc gatgaggcgg cccagatgct ggagtgcgag gccctcaccc cgctggccta
     2941 tgcctcgcac ggcacccgcc tcgtgctggc gggcgaccac atgcaggtca caccccggct
     3001 gttcagtgtg gccagggccc gggcggccga gcacacgctg ctgcaccgcc tcttcctgtg
     3061 ctaccagcag gagactcacg aggtggcgcg gcagagccgc ctggtcttcc acgagaacta
     3121 ccgctgcacg gacgccattg tcagcttcat ctcgcggcac ttctacgtgg ccaagggcaa
     3181 ccccatccac gccaggggca aggttccgcc ccacccccgg cactacccgc tcatgttctg
     3241 ccacgtggcg ggcagcccag accgggacat gtccatggcg tcctggctga atctggctga
     3301 gattgcgcag gtcgtcgaga aggtgcagga ggcctacaac acctggccca gctgctgggg
     3361 cggccgcgag cagaggtgca tctgtgtcgt ttcccacggt gcccaggtca gtgcactgag
     3421 gcaggagctg aggaggcggg acctaggcca ggtgtctgtc ggcagttttg agatcctgcc
     3481 agggcggcag ttccgggtcg tggtgctcag cactgtgcac acctgccaga gcctgctcag
     3541 ccctggggca ctggcccctg agttcttcac cgacgcccgc gtgctcaaca ccgtcctgac
     3601 ccgcgcccag tcccagctgg tggtagtggg ggacgccgtg gccctctgct ccttcggggc
     3661 ctgcggcaag ctctgggaga gcttcatccg tgagtgcgtg gagcggcaca gtgtctgccc
     3721 cgagggcctg tccatggagc aggtcgagca gggtgtggcg cagagacggc gctggcctcc
     3781 ccgaggcaca caggctgggg cagcggggaa ctgggaggct gccccagagc cagtagggga
     3841 cctggccgag gagcaggcgg ctgtggtgac ggccatggtg aaggcagagc cgggagatga
     3901 ggctctgagc ccagcatccc gtgacatcac ggcaaccaca gcgcagacgg aggctgcggc
     3961 agcaccagca ggagacgcag tgaaggaaga cgtggtgccc ggggcctgtg cggcaggagc
     4021 ggctgctgca gcgggcgtgg agtccacgga ggctgaggat gcagaggctg acttctggcc
     4081 gtgggacggg gagctcaacg ctgacgacgc catcctacgg gagcttctgg acgagagcca
     4141 gaaggtgatg gtgaccgtcg gggaggacgg gctgctggac actgtcgcca ggcccgagtc
     4201 cctgcagcag gcccggctgt acgagaacct gcccccggct gcgctacgga agctgctgca
     4261 cgcggagccc gagcggtacc gccactgctc tttcgtgcca gagaccttcg agcgggcgtc
     4321 agccatcccg ctggacgatg cctcctcggg ccccatccag gtcaggggcc gcctggactg
     4381 tgggatggcc ttcgccgggg atgaggtgct ggtgcagctc ctttcgggag acaaggcgcc
     4441 cgaggggcgg cttcggggcc gcgtgctggg cgtgctgaag aggaagaggc acgagctggc
     4501 gtttgtgtgc cgcatggaca cgtgggaccc gcgcatcatg gtccccatca atggctccgt
     4561 gaccaagatc ttcgtggccg agctgaagga cccatcgcag gtccccatct acagcctccg
     4621 gaagggccgg ctgcagcgtg tggggcttga gaggctcacc gccgaggccc ggcacagccg
     4681 gctcttctgg gtccaaattg tcctgtggcg gcaaggcttc tactacccgc tgggcatcgt
     4741 ccgggaggtg ctgcctgagg ccagcacctg ggagcagggc ctccgcatcc tcggcctgga
     4801 gtacagcttg agggtgcccc cgtcggacca ggccaccatc accaaggtgc tgcagaaata
     4861 ccacacggag cttggccggg ttgccggccg ccgagaggac tgccgcgcct tcttgacctt
     4921 cactgtggac ccccagggcg cctgcaacct cgatgatgcc ctcagtgtcc gagacctggg
     4981 tcccaggtgc gaggtggctg tgcacatcac tgatgtggcc agcttcgtgc ccagggacgg
     5041 ggtgctggac gtggaggcgc gaaggcaggg cgctgcgttc tatgcccccg gcagggagcc
     5101 agtgcccatg ctgccggcca gcctctgcca ggacgtcctc agcctcctgc ctggccggga
     5161 ccgcctggcc atctccctgt tcctcaccat ggagaaggcc agtggccagc tgaagagcct
     5221 gcgctttgca ccctccgtgg tccagtctga ccgccagctg tcctacgagg aggcggagga
     5281 ggtgatcagg cagcacccgg gtgccggccg tgagctgccg gcccgcctgg actccgtgga
     5341 cgcctgcgtc gtggccgcgt gctacttctc tcggctgctg cgccggcacc gcctgcggtc
     5401 cgactgcttc tatgagcagc cggacgagga cggcaccctg ggcttccgcg cggcccacat
     5461 catggtgaag gagtacatga ttcagtttaa taggctcgtg gctgagttcc tggtgggcag
     5521 cgagtgcacg cggacggtca cgcctctgcg gtggcagcca gcaccccgca gccagcagct
     5581 caaggccctg tgtgagaagc atggggaccg ggtgcccctg tcactgcacc tcggccacca
     5641 cctgcacggc ggcgggggca gtccccccga cacgcggctg cacctcctgg cctccctctg
     5701 gaagcaggtc cagtttgctg cccgcaccca ggactacgaa cagatggtgg acttggtcac
     5761 cacggacgac atgcacccat tcctggctcc tgcaggccgc gacctccgca aggccctgga
     5821 gcgctcggcg ttcggccgct gcgcccgggg ccaccagcag cagggcggcc actactcgct
     5881 gcaggtggac tggtacacgt gggccacctc gcccatccgc aggtacctgg acgtggtgtt
     5941 gcagcggcag atcctgctgg cgctgggcca tgggggctct gcctactctg ccagggacat
     6001 cgatgggctc tgccaggcct tcagcctcca gcacgcactt gcccagagct atcagcggcg
     6061 ggcgcgcagc ctgcacctgg ccgtgcagct caaggcccag cctctggaca agctgggctt
     6121 cgtggtggac gtggaggcgg gctcccgctg cttccggctg ctcttcccca gcaaccggga
     6181 gacgctgcct gacccctgcc ccgtccccta cggctccctg cagctggccg agcaccccca
     6241 cgccctggca ggccggccgg gcctgcggct cctgtggcgg cgccgtgtct actcagcgca
     6301 gggatccagc ccgcccctgc cactgcctgg cactgtgccg gacccacaca ccctggccgt
     6361 ggagacggcc ctgtggaagc agctgctgga gctggtggag ctgcagcgct ggccggaggc
     6421 ggctgctctc atccaggaga agggcgaggc gtcccagcgg cgggagctgg tgcaggtgca
     6481 gcggagccac tgtggccatt tcctggaggt ggcccgggag ctgggcagtg gggacaccct
     6541 gcaggtgcag ctcggcacca gcctgcagca cggcttcctg gtaccgagcc ctcagctctg
     6601 gacggtggca ccgggcttca gcctctgcct ggagcacgtg gagcggcccg gagactgctt
     6661 ctcaggccgt gtgtaccggg ccccgaggga ccggtaccgc gacgtggatg agtacgcctg
     6721 cgtgtgggaa ccattctgcg ccctggagtc ggccaccggc gcggttgccg agaatgactc
     6781 cgtcacactt cagcacctga gtgtctcctg ggaggcgtca cggacgccgc aggggcagct
     6841 gcagggcgcc ttccgcctgg aggccgcctt cctcgaggag aactgtgccg acatcaactt
     6901 cagctgctgc tacctctgca tccggctcga ggggctgccg gctcccacgg ccagcccacg
     6961 ccctgggccc agcagcctcg gccctggcct gaatgttgac cccggcacgt atacctgggt
     7021 ggcccacggg cagacgcagg actgggacca ggagcgccgg gcagaccggc aggaggctcc
     7081 cagacgggtg cacctcttcg tccaccacat gggcatggag aaggttccgg aagaggtgct
     7141 gaggccgggc accctgttca ccgttgagct gctgcccaag cagcttcctg atctccgcaa
     7201 ggaggaagcc gtgcgtggac tagaggaggc gtccccgctg gtcaccagca tcgcactggg
     7261 ccggcctgtc ccgcagcccc tctgcagagt gatccccagc aggttcctgg agcggcagac
     7321 ctacaacatc cccggaggcc gccacaagct gaaccccagc cagaacgtgg cggtcaggga
     7381 ggctctggag aagcctttca cggtcattca gggcccacca ggtacaggga agacgatcgt
     7441 gggcctccac atcgtattct ggtttcataa atcaaaccag gagcaggtgc agcccggagg
     7501 ccccccccgt ggggagaagc ggctgggggg tccctgcatc ttgtactgcg gcccctccaa
     7561 caagtcggtg gatgtcctgg caggactgct cctgagaagg atggagctga agcccctccg
     7621 tgtgtacagt gagcaggctg aggccagcga gttcccagtg ccgcgtgtgg gcagcaggaa
     7681 gctgctcagg aagagccccc gggaggggag gccgaaccag agcctcagga gcatcaccct
     7741 gcaccaccgg atccggcagg cccccaaccc ttactcgtcg gaaatcaagg cctttgacac
     7801 ccggctgcag agaggggagc tcttctccag ggaggacctg gtctggtaca agaaggtctt
     7861 gtgggaggct cggaagttcg agctggaccg gcatgaggtc atcctctgca cctgctcctg
     7921 tgcagcctct gccagcctca aaatcctgga cgtgaggcag atccttgttg acgaggcagg
     7981 catggccacg gaacctgaaa ccctcatccc cctggtgcag ttcccacagg ccgagaaggt
     8041 ggttcttctc ggagaccaca agcagctgcg gcctgtggtc aagaatgagc ggctgcaaaa
     8101 cctgggtctg gaccggtctc tgttcgagcg gtaccacgag gacgcacata tgctggacac
     8161 tcagtaccgc atgcatgagg gcatctgtgc cttcccctct gtggcgttct acaagagcaa
     8221 gctgaagacg tggcagggcc tgaggaggcc gcccagtgtc ctgggccacg ctggcaagga
     8281 gagctgccct gtcatctttg gccacgtgca gggccacgag cggagcctgc tggtgtccac
     8341 ggacgaaggg aatgagaact ccaaggccaa cctggaggag gtggctgagg tggtccgtat
     8401 caccaagcag ctgaccctgg ggaggaccgt agagccccag gacatcgccg tcctcacgcc
     8461 ctacaacgcg caggcctctg agatcagcaa ggcccttcgg cgagagggca tcgccggggt
     8521 ggccgtgtcc tccatcacca agagccaggg gagcgagtgg cgctatgtgc tggtgagcac
     8581 cgtccgcacc tgtgccaaga gcgacctgga ccagcggccc accaagagct ggctcaagaa
     8641 gtttctgggc ttcgttgtgg accccaacca agtgaatgtg gctgtcacgc gggcccagga
     8701 ggggctctgc ctgatcggag accacctcct tctgcgctgc tgccccctct ggcgtagcct
     8761 cctggacttc tgcgaggctc agcagaccct cgtgcctgcc ggccaggtgc gcgtctgcag
     8821 gaggccaact atgccttcct gaagagccct ctccacctgc aaggtgccag gactgggagg
     8881 gaaagtccag ggccccccca ccctccccac caccctccgc catcagcctg cctgggccag
     8941 cctgcctcct ggcctcagga tctccctggg gcaggaagtg ggtggacttg gaggaggaac
     9001 ggcaagggcc ggtccccaca ctcttgctcc tcctgggcat ctggggacag gaacacctct
     9061 cagggtggcc aagaggggct tccttgggac cagtgcaagg aagttctgct gtccctggga
     9121 agtctcagaa ccaggaagga aaccctgtgg aggctgccct ttgacctttg gacgccacct
     9181 gtaatcactc tggatggtgt ctgtggagtt caggtttatt ttctatttaa atgaactaaa
     9241 agccagcatc ctgccgggcg tggtggctca cgcccataat ccagcacttt gggaagccga
     9301 ggcgggcaga tcacctgagg tcaggagttc gagaccatcc tggccaacat ggtgaaaccc
     9361 cgtctccact aaaaatacaa aattagctgg gcgtggtggc gggcgcctgt aatcccagct
     9421 acttgggagg ctgaggcagg agaatcgctt gactccagga ggcgcaggct gcagtgagct
     9481 ctgatggtac cactgcactc cagcctgggt gacagagcga gaccctgtct taaaaaaaaa
     9541 aacaaaacaa aaccagcatc tgttactgga acagagacct cagcccaagc tcaggacaag
     9601 gaggcctccc tgggagaggg ggcctttctc ccaccatcac cgcctgtgtc cttcaggggc
     9661 tgctggaggg cagcccaaag ccaggggccc accccgcccc accccacccc accccaccct
     9721 ctgaaatgtg aaaagcctgc actcttcctg tgggctgcgc agtgggctcg ggggttgggg
     9781 ggtgccgggg cgatgcttcc accctggact gagtgttcgg ggcagcctgc tcggctgtat
     9841 gtttctcgca cgctcacccg cttcagtgcg gctctgtccc tgctgccgcc tccagtcctg
     9901 agggaggggc ttgccccacc ttctacattc caatttttat atctttgaat tatgtgatta
     9961 gatattaatt taatgataaa accactctga aagctcttct ca
//
LOCUS       NM_001037380             533 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens defensin beta 109B (DEFB109B), transcript variant 1,
            mRNA.
ACCESSION   NM_001037380
VERSION     NM_001037380.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 533)
  AUTHORS   Dua HS, Otri AM, Hopkinson A and Mohammed I.
  TITLE     In vitro studies on the antimicrobial peptide human beta-defensin 9
            (HBD9): signalling pathways and pathogen-related response (an
            American Ophthalmological Society thesis)
  JOURNAL   Trans Am Ophthalmol Soc 112, 50-73 (2014)
   PUBMED   25646028
REFERENCE   2  (bases 1 to 533)
  AUTHORS   Pierson T, Learmonth-Pierson S, Pinto D and van Hoek ML.
  TITLE     Cigarette smoke extract induces differential expression levels of
            beta-defensin peptides in human alveolar epithelial cells
  JOURNAL   Tob Induc Dis 11 (1), 10 (2013)
   PUBMED   23627872
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 533)
  AUTHORS   Otri AM, Mohammed I, Al-Aqaba MA, Fares U, Peng C, Hopkinson A and
            Dua HS.
  TITLE     Variable expression of human Beta defensins 3 and 9 at the human
            ocular surface in infectious keratitis
  JOURNAL   Invest Ophthalmol Vis Sci 53 (2), 757-761 (2012)
   PUBMED   22232436
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 533)
  AUTHORS   Mohammed I, Suleman H, Otri AM, Kulkarni BB, Chen P, Hopkinson A and
            Dua HS.
  TITLE     Localization and gene expression of human beta-defensin 9 at the
            human ocular surface epithelium
  JOURNAL   Invest Ophthalmol Vis Sci 51 (9), 4677-4682 (2010)
   PUBMED   20375350
REFERENCE   5  (bases 1 to 533)
  AUTHORS   Alekseeva L, Huet D, Femenia F, Mouyna I, Abdelouahab M, Cagna A,
            Guerrier D, Tichanne-Seltzer V, Baeza-Squiban A, Chermette R, Latge
            JP and Berkova N.
  TITLE     Inducible expression of beta defensins by human respiratory
            epithelial cells exposed to Aspergillus fumigatus organisms
  JOURNAL   BMC Microbiol 9, 33 (2009)
   PUBMED   19208266
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 533)
  AUTHORS   Abedin A, Mohammed I, Hopkinson A and Dua HS.
  TITLE     A novel antimicrobial peptide on the ocular surface shows decreased
            expression in inflammation and infection
  JOURNAL   Invest Ophthalmol Vis Sci 49 (1), 28-33 (2008)
   PUBMED   18172071
REFERENCE   7  (bases 1 to 533)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ012013.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000382656.2/ ENSP00000516541.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF228730.8.
            On Aug 12, 2021 this sequence version replaced NM_001037380.1.
FEATURES             Location/Qualifiers
     source          1..533
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..533
                     /gene="DEFB109B"
                     /gene_synonym="DEF109P1B; DEFB109; DEFB109P1B; HBD9"
                     /note="defensin beta 109B"
                     /db_xref="GeneID:641517"
                     /db_xref="HGNC:HGNC:33469"
     misc_feature    56..58
                     /gene="DEFB109B"
                     /gene_synonym="DEF109P1B; DEFB109; DEFB109P1B; HBD9"
                     /note="upstream in-frame stop codon"
     CDS             125..388
                     /gene="DEFB109B"
                     /gene_synonym="DEF109P1B; DEFB109; DEFB109P1B; HBD9"
                     /note="defensin, beta 9 pseudogene; defensin beta 109
                     pseudogene 1B; putative beta-defensin 109B"
                     /codon_start=1
                     /product="putative beta-defensin 109B precursor"
                     /protein_id="NP_001032457.1"
                     /db_xref="GeneID:641517"
                     /db_xref="HGNC:HGNC:33469"
                     /translation="MRLHLLLLILLLFSILLSPVRGGLGPAEGHCLNLFGVCRTDVCNI
                     VEDQIGACRRRMKCCRAWWILMPIPTPLIMSDYQEPLKPNLK"
     sig_peptide     125..190
                     /gene="DEFB109B"
                     /gene_synonym="DEF109P1B; DEFB109; DEFB109P1B; HBD9"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     191..385
                     /gene="DEFB109B"
                     /gene_synonym="DEF109P1B; DEFB109; DEFB109P1B; HBD9"
                     /product="Putative beta-defensin 109B. /id=PRO_0000045333"
                     /note="propagated from UniProtKB/Swiss-Prot (Q30KR1.1)"
ORIGIN
        1 ctcttttcgt taggctctac tgaccaagaa caaatcacag actcagagag catcataaaa
       61 aggcctagac ccacgatgcc cagagactcc aggctcaacc cacattgatg ctggcccttc
      121 agccatgaga ctccatttgc ttctccttat tctccttctt ttttcaattc tcttatcccc
      181 agtaagaggt ggtttgggtc ctgcggaagg tcattgtctc aatttgtttg gtgtttgcag
      241 aacagatgtc tgcaacatag tagaagatca aattggtgcc tgccgaagaa ggatgaagtg
      301 ctgtagagca tggtggattt taatgccaat tccaacacca cttatcatgt cagattatca
      361 agaacccctt aaacctaact tgaaatgaaa ctgaaacaaa ataaaaatac atcaaaagtg
      421 aagttatttg catctaagaa tattaaaata tacatattaa gtacttccat cttgataacc
      481 gtcttgcatt ttcacttatc aacataaatg aataaatact aatttcaaat aca
//
LOCUS       NM_001037442            4433 bp    mRNA    linear   PRI 13-MAR-2023
DEFINITION  Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript
            variant 1, mRNA.
ACCESSION   NM_001037442
VERSION     NM_001037442.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4433)
  AUTHORS   Angarita FA, Oshi M, Yamada A, Yan L, Matsuyama R, Edge SB, Endo I
            and Takabe K.
  TITLE     Low RUFY3 expression level is associated with lymph node metastasis
            in older women with invasive breast cancer
  JOURNAL   Breast Cancer Res Treat 192 (1), 19-32 (2022)
   PUBMED   35018543
  REMARK    GeneRIF: Low RUFY3 expression level is associated with lymph node
            metastasis in older women with invasive breast cancer.
REFERENCE   2  (bases 1 to 4433)
  AUTHORS   Zhang Y, Ni W and Qin L.
  TITLE     RUFY3 promotes the progression of hepatocellular carcinoma through
            activating NF-kappaB-mediated epithelial-mesenchymal transition
  JOURNAL   Aging (Albany NY) 13 (17), 21283-21293 (2021)
   PUBMED   34510031
  REMARK    GeneRIF: RUFY3 promotes the progression of hepatocellular carcinoma
            through activating NF-kappaB-mediated epithelial-mesenchymal
            transition.
REFERENCE   3  (bases 1 to 4433)
  AUTHORS   Sakurai S, Shimizu T and Ohto U.
  TITLE     Crystal structure of the FYCO1 RUN domain suggests possible
            interfaces with small GTPases
  JOURNAL   Acta Crystallogr F Struct Biol Commun 76 (Pt 8), 326-333 (2020)
   PUBMED   32744243
  REMARK    GeneRIF: Crystal structure of the FYCO1 RUN domain suggests possible
            interfaces with small GTPases.
REFERENCE   4  (bases 1 to 4433)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 4433)
  AUTHORS   Zhu H, Dai W, Li J, Xiang L, Wu X, Tang W, Chen Y, Yang Q, Liu M,
            Xiao Y, Zhang W, Lin J, Wang J, Liu G, Sun Y, Jiang P, Li G, Li A,
            Liu S, Chen Y and Wang J.
  TITLE     HOXD9 promotes the growth, invasion and metastasis of gastric cancer
            cells by transcriptional activation of RUFY3
  JOURNAL   J Exp Clin Cancer Res 38 (1), 412 (2019)
   PUBMED   31547840
  REMARK    GeneRIF: HOXD9 directly associated with the RUFY3 promoter to
            increase the transcriptional activity of RUFY3 in gastric cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4433)
  AUTHORS   Xie R, Wang J, Liu X, Wu L, Zhang H, Tang W, Li Y, Xiang L, Peng Y,
            Huang X, Bai Y, Liu G, Li A, Wang Y, Chen Y, Ren Y, Li G, Gong W,
            Liu S and Wang J.
  TITLE     RUFY3 interaction with FOXK1 promotes invasion and metastasis in
            colorectal cancer
  JOURNAL   Sci Rep 7 (1), 3709 (2017)
   PUBMED   28623323
  REMARK    GeneRIF: our results uncovered a novel, unexpected regulatory
            function of RUFY3. We identified FOXK1 as a new RUFY3-binding
            protein. This study shed light on the critical role of RUFY3 in
            inducing EMT and in the migration and invasion phenotypes caused by
            abnormal FOXK1 expression. Publication Status: Online-Only
REFERENCE   7  (bases 1 to 4433)
  AUTHORS   Wang G, Zhang Q, Song Y, Wang X, Guo Q, Zhang J, Li J, Han Y, Miao Z
            and Li F.
  TITLE     PAK1 regulates RUFY3-mediated gastric cancer cell migration and
            invasion
  JOURNAL   Cell Death Dis 6 (3), e1682 (2015)
   PUBMED   25766321
  REMARK    GeneRIF: these findings provide important evidence that PAK1 can
            positively regulate RUFY3 expression, which contribute to the
            metastatic potential of gastric cancer cells Publication Status:
            Online-Only
REFERENCE   8  (bases 1 to 4433)
  AUTHORS   Yoshida,H., Okumura,N., Kitagishi,Y., Shirafuji,N. and Matsuda,S.
  TITLE     Rab5(Q79L) interacts with the carboxyl terminus of RUFY3
  JOURNAL   Int J Biol Sci 6 (2), 187-189 (2010)
   PUBMED   20376209
  REMARK    GeneRIF: Rab5(Q79L) interacts with the carboxyl terminus of RUFY3
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 4433)
  AUTHORS   Mori T, Wada T, Suzuki T, Kubota Y and Inagaki N.
  TITLE     Singar1, a novel RUN domain-containing protein, suppresses formation
            of surplus axons for neuronal polarity
  JOURNAL   J Biol Chem 282 (27), 19884-19893 (2007)
   PUBMED   17439943
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.8983.1,
            SRR1803617.237418.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381006.8/ ENSP00000370394.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA248021.1, BC053837.1,
            AK302637.1, DC299541.1, AC009570.13, AC021989.8 and AA435606.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001037442.3.
            Summary: This gene encodes a RPIP8, UNC-14, and NESCA
            domain-containing protein that is required for maintenance of
            neuronal polarity. In addition, it has been implicated in mediation
            of gastric cancer cell migration and invasion via interaction with
            P21-activated kinase-1, which promotes its expression. The encoded
            protein localizes to F-actin-enriched invadopodia to induce
            formation of protrusions, thereby facilitating cell migration.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2016].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4433
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     gene            1..4433
                     /gene="RUFY3"
                     /gene_synonym="RIPX; SINGAR1; ZFYVE30"
                     /note="RUN and FYVE domain containing 3"
                     /db_xref="GeneID:22902"
                     /db_xref="HGNC:HGNC:30285"
                     /db_xref="MIM:611194"
     misc_feature    602..604
                     /gene="RUFY3"
                     /gene_synonym="RIPX; SINGAR1; ZFYVE30"
                     /note="upstream in-frame stop codon"
     CDS             611..2473
                     /gene="RUFY3"
                     /gene_synonym="RIPX; SINGAR1; ZFYVE30"
                     /note="isoform 1 is encoded by transcript variant 1; single
                     axon-related 1; rap2 interacting protein x; single
                     axon-regulated protein"
                     /codon_start=1
                     /product="protein RUFY3 isoform 1"
                     /protein_id="NP_001032519.1"
                     /db_xref="CCDS:CCDS34001.1"
                     /db_xref="GeneID:22902"
                     /db_xref="HGNC:HGNC:30285"
                     /db_xref="MIM:611194"
                     /translation="MSALTPPTDMPTPTTDKITQAAMETIYLCKFRVSMDGEWLCLREL
                     DDISLTPDPEPTHEDPNYLMANERMNLMNMAKLSIKGLIESALNLGRTLDSDYAPLQQF
                     FVVMEHCLKHGLKAKKTFLGQNKSFWGPLELVEKLVPEAAEITASVKDLPGLKTPVGRG
                     RAWLRLALMQKKLSEYMKALINKKELLSEFYEPNALMMEEEGAIIAGLLVGLNVIDANF
                     CMKGEDLDSQVGVIDFSMYLKDGNSSKGTEGDGQITAILDQKNYVEELNRHLNATVNNL
                     QAKVDALEKSNTKLTEELAVANNRIITLQEEMERVKEESSYILESNRKGPKQDRTAEGQ
                     ALSEARKHLKEETQLRLDVEKELEMQISMRQEMELAMKMLEKDVCEKQDALVSLRQQLD
                     DLRALKHELAFKLQSSDLGVKQKSELNSRLEEKTNQMAATIKQLEQRLRQAERSRQSAE
                     LDNRLFKQDFGDKINSLQLEVEELTRQRNQLELELKQEKERRLQNDRSIPGRGSQKSES
                     KMDGKHKMQEENVKLKKPLEESHRLQPHPMDEQDQLLLSEKPQLCQLCQEDGSLTKNVC
                     KNCSGTFCDACSTNELPLPSSIKLERVCNPCHKHLMKQYSTSPS"
     misc_feature    623..625
                     /gene="RUFY3"
                     /gene_synonym="RIPX; SINGAR1; ZFYVE30"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q5FVJ0; propagated from
                     UniProtKB/Swiss-Prot (Q7L099.1); phosphorylation site"
     misc_feature    644..646
                     /gene="RUFY3"
                     /gene_synonym="RIPX; SINGAR1; ZFYVE30"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q5FVJ0; propagated from
                     UniProtKB/Swiss-Prot (Q7L099.1); phosphorylation site"
     misc_feature    710..712
                     /gene="RUFY3"
                     /gene_synonym="RIPX; SINGAR1; ZFYVE30"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D394; propagated from
                     UniProtKB/Swiss-Prot (Q7L099.1); phosphorylation site"
     misc_feature    755..757
                     /gene="RUFY3"
                     /gene_synonym="RIPX; SINGAR1; ZFYVE30"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D394; propagated from
                     UniProtKB/Swiss-Prot (Q7L099.1); phosphorylation site"
     misc_feature    761..763
                     /gene="RUFY3"
                     /gene_synonym="RIPX; SINGAR1; ZFYVE30"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9D394; propagated from
                     UniProtKB/Swiss-Prot (Q7L099.1); phosphorylation site"
     regulatory      2665..2670
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RUFY3"
                     /gene_synonym="RIPX; SINGAR1; ZFYVE30"
                     /note="hexamer: AATAAA"
     polyA_site      2685
                     /gene="RUFY3"
                     /gene_synonym="RIPX; SINGAR1; ZFYVE30"
                     /note="major polyA site"
     regulatory      4301..4306
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RUFY3"
                     /gene_synonym="RIPX; SINGAR1; ZFYVE30"
                     /note="hexamer: AATAAA"
     polyA_site      4329
                     /gene="RUFY3"
                     /gene_synonym="RIPX; SINGAR1; ZFYVE30"
                     /note="major polyA site"
     regulatory      4409..4414
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RUFY3"
                     /gene_synonym="RIPX; SINGAR1; ZFYVE30"
                     /note="hexamer: AATAAA"
     polyA_site      4433
                     /gene="RUFY3"
                     /gene_synonym="RIPX; SINGAR1; ZFYVE30"
                     /note="major polyA site"
ORIGIN
        1 agttcattag tcagccattt tggtcaacac cctgcttact gcgcacggcc aatcctatga
       61 gaactcagca tcccagctca tctgagcaga tcctggaagt gatttctgca gctcaggatt
      121 ttttttttaa gctacattga aaatataggt ttattttttg ttcaggtttt tcttttatat
      181 tttttttctg cacaaaggag gaggattttt cacttactca tatcgaggcc agatttttaa
      241 agccagctaa ggcagcatca gctgtgcggg atttaaagcc tatagctcag ctgaaaaaaa
      301 aggtgggggg cagggaaggg aagataaaag gagaggaagc tgggagaaga caagcatcat
      361 cttattttgc tatgtggtag gaactgtcta taagatagtg tagaattgtt tatcttgagc
      421 agtttgttct taacctataa ggtatttttc cttttttttt tttttaaacc tcccccaccc
      481 ttttcctgaa agctttgttt cagagctttg tattgggttt ttttggtgag gaggttgtat
      541 ttattttttt ggtgtgtgtg tgtgagtgtg tgtgtgtctg tgtgtgtgtt gtggtcccag
      601 ctgagtcatc atgtctgctc tgacgcctcc gaccgatatg ccaaccccca ccactgacaa
      661 gatcacacag gctgccatgg agaccatcta cctttgcaaa ttccgagtgt ccatggatgg
      721 agaatggctc tgcctgcgag agctggatga catctcactt acacctgacc cagagcctac
      781 ccatgaagat cctaattatc tcatggctaa tgaacgcatg aacctcatga acatggccaa
      841 gctgagtatc aagggcttga ttgaatcagc tctgaacctg gggaggactc ttgactctga
      901 ctatgcacct ctccagcaat tctttgtggt gatggagcac tgtctgaaac atggcttgaa
      961 agctaaaaaa acttttctcg gacaaaataa atccttctgg gggcctctag aactggtaga
     1021 aaagcttgtt ccagaagccg cagagataac agcaagtgtt aaagatcttc caggacttaa
     1081 gacaccagta ggtagaggaa gagcctggct tcgtttggca ttaatgcaaa agaaactttc
     1141 agaatatatg aaagctttga tcaataagaa agaacttctc agtgaattct acgaacccaa
     1201 tgccctcatg atggaagaag aaggagccat aattgctggt ctgttggtgg gtctgaatgt
     1261 cattgatgcc aatttctgta tgaaaggaga agacttggac tctcaggttg gagttataga
     1321 tttttcaatg tatctcaagg acgggaacag cagtaaaggt actgaaggag acggtcagat
     1381 tactgcaatt ctggaccaga agaactatgt agaagaactg aacagacatt tgaatgctac
     1441 tgtaaacaac cttcaggcaa aagtagatgc attagaaaaa tccaacacta aactgacaga
     1501 ggagcttgca gttgcaaaca acaggatcat taccttacaa gaagaaatgg aacgagttaa
     1561 agaggaaagt tcctacatac tggaatccaa tcggaagggt cccaagcaag acagaactgc
     1621 agaagggcaa gcactaagtg aagcaagaaa gcatttaaaa gaagagacac aattacgatt
     1681 ggatgttgag aaagaactgg agatgcagat cagcatgagg caggagatgg aattggctat
     1741 gaagatgctg gagaaggatg tctgtgagaa gcaggatgcc ctggtatctc ttcggcagca
     1801 gctggatgac ctcagagctc tcaagcatga acttgccttt aagctgcaga gttcagactt
     1861 aggagtaaaa cagaaaagtg aactaaacag tcgcttggaa gagaagacta atcagatggc
     1921 tgctaccatt aaacaacttg aacaaagatt gcgccaggct gagcgaagcc gccaatctgc
     1981 tgagttggac aaccggctct tcaaacagga ctttggagac aagatcaaca gtctgcagct
     2041 ggaagtcgag gagctcacca ggcagcggaa ccagcttgag ttagaactaa aacaggaaaa
     2101 agaaagaaga ttacaaaacg acaggagcat cccaggaagg ggttcccaga agtcagaatc
     2161 caagatggat gggaagcaca aaatgcaaga ggaaaatgtt aaactaaaaa agcccctgga
     2221 agaaagccac aggctgcaac cccaccctat ggatgaacag gatcagctgc tgctctctga
     2281 aaagccacag ttgtgtcagc tatgccagga agacggcagc ctaacaaaga atgtgtgtaa
     2341 gaactgcagc ggaaccttct gtgatgcctg ttcaacaaat gaactgcctc ttccttcaag
     2401 tatcaagctt gagcgagttt gcaatccctg tcacaagcat ctgatgaagc aatattctac
     2461 cagcccatca taagactgga ggccaagacc tggaccaaaa cgtttatgca ggctcctctg
     2521 tacctgtgtt ttagctgtca ggatctcata gagcccagtt cttagagtca actaaagagt
     2581 tgataggaat ttactaggtc cagggagaaa aggcagtggt tggggttact ggaaattttg
     2641 ctcattttct ctaatgactg tatgaataaa agtgaactta cttgagcctt tctcttctaa
     2701 atctaaacaa cctgatattg aaggtttgct ttatagcata tctttggaaa ggcaactcat
     2761 ttttatgatt agtgatactg gggtggattt aataggagag agaatccagg cagataagaa
     2821 taaaaaggaa aatgatcatc tccttctata gcatttgcag attcaagggg gagaggtaga
     2881 tgctgagatc aaaatgacag ttgttactta tttttccagg tgctgttagt ataaacattg
     2941 tttcctcttc acccctgcta actacctctt taaagtattt ctaccaaact gtgaacccaa
     3001 tctcagggaa aagaaattaa aaagtaatat aaattctgca tatattaaaa acaatattgt
     3061 aatatgttat aatttcagga ccagaatttt ctggtcttta cctacaaggg ttttcattat
     3121 caaaaaaaag aacatttgtt tttctacttt atgacttcaa agtaaataac tgcccttttc
     3181 agaatctcct tccacaaaac aagccaactc ttccccattc cctccatctt cctttccaag
     3241 tcataatgga aattgtaagg agttttaaaa atagggtttg gcttttgcaa atagaagata
     3301 ttgattaaag caaagtcaaa tatagagtaa aataagttta atttgttttc ttaagacagg
     3361 gtcttgctct gttgcacaag ctggagggca gtagtgcaat cacagctcac tgaatccctg
     3421 ttctcccggg cctcaagcaa tcttcccacc ttagcctccc aagtagctgg gactggcttt
     3481 tttttttttt ttttggccgg ggagggggtc tcattggttg ctcagcctgg tctcaaactc
     3541 ctgggcttaa gcagtcctcc caccttgact tccacagtgc cgagattaca ggcatgagcc
     3601 accacacctg gccaagttta atttgttcat ggctgagaac agttagctcg gaatacttac
     3661 attgtttttt gaataaggaa ttccttattc tgagtgagtc acgaatgaga gctgatagat
     3721 gctttcttga aaagggcaat acagtcatcc cttggtatcc atgggggatt ggttccagga
     3781 acccaacttg atatcagaat ccatgggtgc tcaagtccca ttatagagaa tgggttatat
     3841 ggtatttgca tataacctac atacatcctc ctgtgtactt taaatcatct gaagatgatt
     3901 acttatacct aataaaatac ctacacatca cttcatttgc atggattcaa catagtgctt
     3961 ggtgttcagt aaattcaagt tttgcttttt tggaactttg tggaattttt ctttttctga
     4021 atatttttga ttggcagttg gttgaagcca tggatgcaga acccatggat atggagggct
     4081 gactgtactt acttacatat ctatctatct ttgagtaaca aactctttgg gggaaaagag
     4141 ggaagtgtat tgagcaagag aaggcaaaaa acattacata atattttgat tctgttacgt
     4201 gtgtctatag attgtttcat tctaatcaag acctaagaag gtatgattct gtgactgatt
     4261 tagaattctg gggtggaaat atcctggaac catgtttttt aataaattct gtctcttgga
     4321 aagagttaac aacagcctgg gaaagagttg ttattccaaa agtcagcctg ttacttggtg
     4381 aagctgaagt ttaagagttc tggggaaaaa taaaatctag taattccagc cta
//
LOCUS       NM_001037497             397 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens defensin beta 110 (DEFB110), transcript variant 1,
            mRNA.
ACCESSION   NM_001037497
VERSION     NM_001037497.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 397)
  AUTHORS   Rodriguez A, Pedersen MO, Villegas E, Rivas-Santiago B,
            Villegas-Moreno J, Amero C, Norton RS and Corzo G.
  TITLE     Antimicrobial activity and structure of a consensus human
            beta-defensin and its comparison to a novel putative hBD10
  JOURNAL   Proteins 88 (1), 175-186 (2020)
   PUBMED   31325337
  REMARK    GeneRIF: Antimicrobial activity and structure of a consensus human
            beta-defensin and its comparison to a novel putative hBD10.
REFERENCE   2  (bases 1 to 397)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
  REMARK    GeneRIF: The encoded protein is thought to have antimicrobial
            activity.
REFERENCE   3  (bases 1 to 397)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ012015.1, BX111343.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000371148.3/ ENSP00000360190.2
            Protein has antimicrobial activity :: PMID: 16033865
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138879.10 and DQ012015.1.
            On May 17, 2019 this sequence version replaced NM_001037497.1.
            Summary: Defensins form a family of antimicrobial and cytotoxic
            peptides made by neutrophils. Defensins are short, processed
            peptide molecules that are classified by structure into three
            groups: alpha-defensins, beta-defensins and theta-defensins. All
            beta-defensin genes are densely clustered in four to five syntenic
            chromosomal regions. Two transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Oct
            2014].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a, also known as
            DEFB111).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..397
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.3"
     gene            1..397
                     /gene="DEFB110"
                     /gene_synonym="DEFB-10; DEFB-11; DEFB111"
                     /note="defensin beta 110"
                     /db_xref="GeneID:245913"
                     /db_xref="HGNC:HGNC:18091"
     misc_feature    9..11
                     /gene="DEFB110"
                     /gene_synonym="DEFB-10; DEFB-11; DEFB111"
                     /note="upstream in-frame stop codon"
     CDS             60..263
                     /gene="DEFB110"
                     /gene_synonym="DEFB-10; DEFB-11; DEFB111"
                     /note="isoform a precursor is encoded by transcript variant
                     1; defensin, beta 10; beta-defensin 110; beta-defensin 10;
                     beta-defensin 111; defensin, beta 110 locus"
                     /codon_start=1
                     /product="beta-defensin 110 isoform a precursor"
                     /protein_id="NP_001032586.1"
                     /db_xref="CCDS:CCDS34475.1"
                     /db_xref="GeneID:245913"
                     /db_xref="HGNC:HGNC:18091"
                     /translation="MKIQLFFFILHFWVTILPAKKKYPEYGSLDLRRECRIGNGQCKNQ
                     CHENEIRIAYCIRPGTHCCLQQ"
     sig_peptide     60..116
                     /gene="DEFB110"
                     /gene_synonym="DEFB-10; DEFB-11; DEFB111"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     117..260
                     /gene="DEFB110"
                     /gene_synonym="DEFB-10; DEFB-11; DEFB111"
                     /product="beta-defensin 110 isoform a"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     16033865]"
ORIGIN
        1 aaaacaactg acttgaaaaa ggaggtctgt tgcccccttt ttttaagaaa ctctctacca
       61 tgaagattca actttttttc tttattctgc acttttgggt cacaatttta ccagccaaaa
      121 agaaatatcc tgagtatggt agcttggact tgaggagaga gtgcagaata ggtaatggtc
      181 aatgtaaaaa tcagtgtcat gaaaatgaaa ttaggattgc ttactgcata agacctggaa
      241 ctcattgctg cttgcagcag taacgatgac agaagaaaag agtcacaagc tccaagaaga
      301 gagaccagcg ttattaagtt ttcccagcac atccttcaag gcgtgtgtgt ctctataata
      361 cacaagaact aaataaaaat taatgttgaa ccattca
//
LOCUS       NM_001037499             312 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens defensin beta 114 (DEFB114), mRNA.
ACCESSION   NM_001037499
VERSION     NM_001037499.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 312)
  AUTHORS   Yu H, Dong J, Gu Y, Liu H, Xin A, Shi H, Sun F, Zhang Y, Lin D and
            Diao H.
  TITLE     The novel human beta-defensin 114 regulates lipopolysaccharide
            (LPS)-mediated inflammation and protects sperm from motility loss
  JOURNAL   J Biol Chem 288 (17), 12270-12282 (2013)
   PUBMED   23482568
  REMARK    GeneRIF: Human beta-defensin 114 regulates lipopolysaccharide
            (LPS)-mediated inflammation and protects sperm from motility loss.
            It also has antimicrobial activity against E. coli, S. aureus, and
            C. albicans.
REFERENCE   2  (bases 1 to 312)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
REFERENCE   3  (bases 1 to 312)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000322066.4/ ENSP00000312702.3
            Protein has antimicrobial activity :: PMID: 23482568
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138879.10.
            On Mar 15, 2019 this sequence version replaced NM_001037499.1.
            Summary: Defensins form a family of antimicrobial and cytotoxic
            peptides made by neutrophils. Defensins are short, processed
            peptide molecules that are classified by structure into three
            groups: alpha-defensins, beta-defensins and theta-defensins. All
            beta-defensin genes are densely clustered in four to five syntenic
            chromosomal regions. The protein encoded by this gene is a
            beta-defensin with antimicrobial activity against E. coli, S.
            aureus, and C. albicans. The encoded protein also binds and
            neutralizes lipopolysaccharide (LPS), a factor involved in
            inflammatory diseases and male reproductive issues. [provided by
            RefSeq, Nov 2014].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..312
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.3"
     gene            1..312
                     /gene="DEFB114"
                     /gene_synonym="DEFB-14; DEFB14"
                     /note="defensin beta 114"
                     /db_xref="GeneID:245928"
                     /db_xref="HGNC:HGNC:18095"
                     /db_xref="MIM:615243"
     CDS             60..269
                     /gene="DEFB114"
                     /gene_synonym="DEFB-14; DEFB14"
                     /note="defensin, beta 14; beta-defensin 14; beta-defensin
                     114"
                     /codon_start=1
                     /product="beta-defensin 114 precursor"
                     /protein_id="NP_001032588.1"
                     /db_xref="CCDS:CCDS34474.1"
                     /db_xref="GeneID:245928"
                     /db_xref="HGNC:HGNC:18095"
                     /db_xref="MIM:615243"
                     /translation="MRIFYYLHFLCYVTFILPATCTLVNADRCTKRYGRCKRDCLESEK
                     QIDICSLPRKICCTEKLYEEDDMF"
     sig_peptide     60..137
                     /gene="DEFB114"
                     /gene_synonym="DEFB-14; DEFB14"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     138..266
                     /gene="DEFB114"
                     /gene_synonym="DEFB-14; DEFB14"
                     /product="beta-defensin 114"
                     /experiment="DESCRIPTION:antimicrobial
                     peptide[PMID:23482568]"
ORIGIN
        1 gaaagttcta tagtctctat attctgttat caagtctttc aacaacttct ttctacagaa
       61 tgaggatctt ttactatctc cattttctgt gttatgtgac cttcattcta ccagccacat
      121 gtaccttggt gaatgctgat cgttgcacca aacgttacgg tcgttgtaaa agagactgtc
      181 ttgagagtga aaagcaaata gacatatgtt ccttaccaag aaaaatttgc tgcactgaga
      241 aattgtatga agaagatgat atgttttgaa aagaaaggca tacctctgaa caaagaagtt
      301 acatgtgcac ca
//
LOCUS       NM_001037500             777 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens defensin beta 124 (DEFB124), mRNA.
ACCESSION   NM_001037500
VERSION     NM_001037500.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 777)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 777)
  AUTHORS   Kim KH, Lee J, Han JH and Myung SC.
  TITLE     Beta-Defensin 124 Is Required for Efficient Innate Immune Responses
            in Prostate Epithelial RWPE-1 Cells
  JOURNAL   Korean J Urol 55 (6), 417-425 (2014)
   PUBMED   24955228
  REMARK    GeneRIF: The encoded protein is thought to display antimicrobial
            activity and may enhance innate immunity in the prostate.
REFERENCE   3  (bases 1 to 777)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
REFERENCE   4  (bases 1 to 777)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     ##Evidence-Data-START##
            CDS exon combination               :: DQ119827.1 [ECO:0000331]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            inferred exon combination          :: based on alignments, homology
            MANE Ensembl match :: ENST00000317676.3/ ENSP00000326309.2
            Protein has antimicrobial activity :: PMID: 24955228
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121751.12.
            On Sep 21, 2020 this sequence version replaced NM_001037500.1.
            Summary: Defensins are cysteine-rich cationic polypeptides that are
            important in the host immunologic response to invading
            microorganisms. This antimicrobial protein is secreted and is a
            member of the beta defensin protein family. Beta defensin genes are
            found in several clusters throughout the genome, with this gene
            mapping to a cluster at 20q11.1. The encoded protein may serve to
            enhance innate immunity in the prostate. [provided by RefSeq, Nov
            2014].
FEATURES             Location/Qualifiers
     source          1..777
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     gene            1..777
                     /gene="DEFB124"
                     /gene_synonym="DEFB-24"
                     /note="defensin beta 124"
                     /db_xref="GeneID:245937"
                     /db_xref="HGNC:HGNC:18104"
     misc_feature    422..424
                     /gene="DEFB124"
                     /gene_synonym="DEFB-24"
                     /note="upstream in-frame stop codon"
     misc_feature    476..478
                     /gene="DEFB124"
                     /gene_synonym="DEFB-24"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MAEKKNAPSSLPRSPVA"
     CDS             527..742
                     /gene="DEFB124"
                     /gene_synonym="DEFB-24"
                     /note="defensin, beta 24; beta-defensin 24; beta-defensin
                     124"
                     /codon_start=1
                     /product="beta-defensin 124 precursor"
                     /protein_id="NP_001032589.1"
                     /db_xref="CCDS:CCDS33457.1"
                     /db_xref="GeneID:245937"
                     /db_xref="HGNC:HGNC:18104"
                     /translation="MTQLLLFLVALLVLGHVPSGRSEFKRCWKGQGACQTYCTRQETYM
                     HLCPDASLCCLSYALKPPPVPKHEYE"
     sig_peptide     527..592
                     /gene="DEFB124"
                     /gene_synonym="DEFB-24"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     593..739
                     /gene="DEFB124"
                     /gene_synonym="DEFB-24"
                     /product="beta-defensin 124"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     24955228]"
     regulatory      759..764
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DEFB124"
                     /gene_synonym="DEFB-24"
                     /note="hexamer: AATAAA"
     polyA_site      777
                     /gene="DEFB124"
                     /gene_synonym="DEFB-24"
                     /note="major polyA site"
ORIGIN
        1 gcttctgcca gccctacgca ccgggtgagg gtggcagacg agaaaggaag gatgggggct
       61 ctggattcct gggtctggag ctccatctgc gtccacatct gtccactcca tcaaggggat
      121 gcactaacat attagccccc agaaaaacca cttggggaac ttgctaaatt ttcaggtccc
      181 gccttccaag agaggcggat tccacggtgc tgggggaggg gttcgggaat ctgcgtttta
      241 aacaagtgcc ccaagtgatc ctgatgcagg cggttcactg acctcacttt aagaaactct
      301 gctctggatg aagaattaat tttgggaggt ggcttggagg aagagagagc tcaggaagtc
      361 tgcactgaag aattatgaaa atcttatttt ggcatcattc attcattcac caactgaggc
      421 ttagctgggc ctgggcctga ggtctctgcc actctgtcta ctgtttctat tactgatggc
      481 tgaaaaaaaa aatgctccca gcagcctccc caggagcccc gtggccatga cacagctgct
      541 tctgttcctt gtggctctcc tggttctggg tcatgtgcca tcagggagaa gtgaattcaa
      601 acggtgctgg aagggtcaag gggcctgcca aacttactgc acaaggcaag aaacttacat
      661 gcacctgtgc ccggatgcgt ccctgtgctg tctctcctat gcattgaaac ctccaccggt
      721 ccccaagcat gaatatgagt agctggttcc tgctgtccaa taaaacacag gttgcca
//
LOCUS       NM_001037501            7256 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens NBPF member 8 (NBPF8), transcript variant 1, mRNA.
ACCESSION   NM_001037501
VERSION     NM_001037501.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7256)
  AUTHORS   Genno PG, Nemer GM, Zein Eddine SB, Macari AT and Ghafari JG.
  TITLE     Three novel genes tied to mandibular prognathism in eastern
            Mediterranean families
  JOURNAL   Am J Orthod Dentofacial Orthop 156 (1), 104-112 (2019)
   PUBMED   31256822
REFERENCE   2  (bases 1 to 7256)
  AUTHORS   Dumas LJ, O'Bleness MS, Davis JM, Dickens CM, Anderson N, Keeney JG,
            Jackson J, Sikela M, Raznahan A, Giedd J, Rapoport J, Nagamani SS,
            Erez A, Brunetti-Pierri N, Sugalski R, Lupski JR, Fingerlin T,
            Cheung SW and Sikela JM.
  TITLE     DUF1220-domain copy number implicated in human brain-size pathology
            and evolution
  JOURNAL   Am J Hum Genet 91 (3), 444-454 (2012)
   PUBMED   22901949
REFERENCE   3  (bases 1 to 7256)
  AUTHORS   O'Bleness MS, Dickens CM, Dumas LJ, Kehrer-Sawatzki H, Wyckoff GJ
            and Sikela JM.
  TITLE     Evolutionary history and genome organization of DUF1220 protein
            domains
  JOURNAL   G3 (Bethesda) 2 (9), 977-986 (2012)
   PUBMED   22973535
REFERENCE   4  (bases 1 to 7256)
  AUTHORS   Vandepoele K, Van Roy N, Staes K, Speleman F and van Roy F.
  TITLE     A novel gene family NBPF: intricate structure generated by gene
            duplications during primate evolution
  JOURNAL   Mol Biol Evol 22 (11), 2265-2274 (2005)
   PUBMED   16079250
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: BC086308.1 [ECO:0000331]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000698216.1/ ENSP00000513610.1
            RefSeq Select criteria :: based on manual assertion
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC241952.2.
            On Oct 7, 2021 this sequence version replaced NM_001037501.4.
            Summary: This gene is a member of the neuroblastoma breakpoint
            family (NBPF) which consists of dozens of recently duplicated genes
            primarily located in segmental duplications on human chromosome 1.
            This gene family has experienced its greatest expansion within the
            human lineage and has expanded, to a lesser extent, among primates
            in general. Members of this gene family are characterized by
            tandemly repeated copies of DUF1220 protein domains. Gene copy
            number variations in the human chromosomal region 1q21.1, where
            most DUF1220 domains are located, have been implicated in a number
            of developmental and neurogenetic diseases such as microcephaly,
            macrocephaly, autism, schizophrenia, cognitive disability,
            congenital heart disease, neuroblastoma, and congenital kidney and
            urinary tract anomalies. Altered expression of some gene family
            members is associated with several types of cancer. This gene
            family contains numerous pseudogenes. [provided by RefSeq, Apr
            2013].
            Transcript Variant: This variant (1) encodes the protein.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7256
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p11.2"
     gene            1..7256
                     /gene="NBPF8"
                     /gene_synonym="NBPF8P"
                     /note="NBPF member 8"
                     /db_xref="GeneID:728841"
                     /db_xref="HGNC:HGNC:31990"
                     /db_xref="MIM:613998"
     misc_feature    904..906
                     /gene="NBPF8"
                     /gene_synonym="NBPF8P"
                     /note="upstream in-frame stop codon"
     CDS             973..3801
                     /gene="NBPF8"
                     /gene_synonym="NBPF8P"
                     /note="neuroblastoma breakpoint family, member 8,
                     pseudogene; neuroblastoma breakpoint family member 8"
                     /codon_start=1
                     /product="putative neuroblastoma breakpoint family member
                     8"
                     /protein_id="NP_001032590.2"
                     /db_xref="CCDS:CCDS91029.1"
                     /db_xref="GeneID:728841"
                     /db_xref="HGNC:HGNC:31990"
                     /db_xref="MIM:613998"
                     /translation="MVVSAGPWSSEKAEMNILEINEKLRPQLAENKQQFVNLKERCFLT
                     QLAGFLANRQKKYKYEECKDLIRFMLRNERQFKEEKLAEQLKQAEELRQYKVLVHSQER
                     ELTQLKEKLQEGRDASRSLNEHLQALLTLDEPDKSQGQDLQEQLAEGCRLAQHLVQKLS
                     PENDEDEDEDVQVEEDEKVQKSSAPREVQKAEESKVPEDSLEECAITCSNSHGPCDSNQ
                     PHKNIKITFEEDEVNSTLVVDRESSHDECQDALNILSVPGPTSSATNVSMVVSAGPLSS
                     EKAEMNILEINEKLHPQLAEKKQQFRNLKEKCFLTQLAGFLANRQNKYKYEECKDLIKS
                     MLRNERQFKEEKLAEQLKQAEELRQYKVLVHTQERELTQLREKLREGRDASLSLNEHLQ
                     ALLTPDEPDKSQGQDLQEQLAEGCRLAQHLVQKLSPENDNDDDEDVQVEVAEKVQKSSA
                     PREMQKAEEKEVPEDSLEECAITYSNSHGPYDSNQPHRKTKITFEEDKVDSALIGSSSH
                     VEWEDAVHIIPENESDDEEEEEKGPVSPRNLQESEEEEVPQESWDEGYSTLSIPPEMLA
                     SYKSYSSTFHSLEEQQVCMAVDIGRHRWDQVKKEDQEATGPRLSRELLDEKGPEVLQDS
                     LDRCYSTPSGCLELTDSCQPYRSAFYILEQQRVGLAVDMDEIEKYQEVEEDQDPSCPRL
                     SRELLDEKEPEVLQDSLDRCYSTPSGYLELPDLGQPYSSAVYSLEEQYLGLALDVDRIK
                     KDQEEEEDQGPPCPRLSRELLEVVEPEVLQDSLDRCYSTPSSCLEQPDSCQPYGSSFYA
                     LEEKHVGFSLDVGEIEKKGKGKIRRGRRSKKKRRRGRKEGEEDQNPPCPRLNSVLMEVE
                     EPEVLQDSLDRCYSTPSMYCELRDSFQHYRSVFYSFEEQHISFALDMDNRFFTLTVTSL
                     YLVFQMGVIFPQ"
     regulatory      5299..5304
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NBPF8"
                     /gene_synonym="NBPF8P"
                     /note="hexamer: ATTAAA"
     polyA_site      5319
                     /gene="NBPF8"
                     /gene_synonym="NBPF8P"
                     /note="major polyA site"
     regulatory      5404..5409
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NBPF8"
                     /gene_synonym="NBPF8P"
                     /note="hexamer: AATAAA"
     polyA_site      5438
                     /gene="NBPF8"
                     /gene_synonym="NBPF8P"
                     /note="major polyA site"
     regulatory      7236..7241
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NBPF8"
                     /gene_synonym="NBPF8P"
                     /note="hexamer: AATAAA"
     polyA_site      7256
                     /gene="NBPF8"
                     /gene_synonym="NBPF8P"
ORIGIN
        1 gagcgggacc ctgaggagcc agctggctca ggctatgggc tgggcggcgg ttgagacagc
       61 ggcggtattg ggaggggtag gtgagggtcg cgaggctgcg tgagcatctg agtgaacgcg
      121 gtgcttttgg gaacgcggga cgggcgacct gtggcgccag gagcgggccg aggcgcggcg
      181 cacggatgcc atctggatgg gaagttacgg tttacagcga agtccaccca gcgtttccga
      241 ggtgaaggcg ccgcgccagg ccggggggcg gcaatctgaa agcaaatcct gtttagatgc
      301 aggcgaaggt tcctggtgac ccaggctctc accttaccgt cccttaccgt cctcctgagg
      361 gtgtcctgga gcttcagtgc tgtgtgttct tggcctccac gctgggggtg ccaccaactc
      421 ccactgtcca gggcttccag tggactctcc gaggtactga tgtagaaact tccccattcg
      481 gtgcaccaag agcaacctca cacggtgtgg gccgaatgaa gagctgccag atcccacagc
      541 ccttgaagat aaggatggtc aaacaaaata atatcatacc tggagaaact cagatcttgc
      601 taagatttac tggttgggaa tccaaagtta atgccaagaa gcagccgcca gttgggatca
      661 aatgtgagcc tatggatcaa gacggttacc tggcacgctg gccacaatct acctcactct
      721 tatcagagtc tgagctactg gcagtgcttt cagctctgag ttgaggcacc tcgaaccttg
      781 tttttgtggt gaaggatcct aaagtgctgt gggagtgatc acatttttca caacagtaag
      841 gtaagaattt cagttactga catccctcag tcctgattaa acctatttga tttcaccagt
      901 ttttaaccca tcatatgttt gggtttcttc tccccagtcc ctgactccac ctcttctgcc
      961 acaaacgtca gcatggtggt atcagccggc ccttggtcca gcgagaaggc agagatgaac
     1021 attctagaaa tcaacgagaa attgcgcccc cagttggcag agaacaaaca gcagttcgta
     1081 aacctcaaag agagatgttt tctaactcaa ctggccggct tcctggccaa ccgacagaag
     1141 aaatacaagt atgaagagtg taaagacctc ataagattta tgctgaggaa tgagcgacag
     1201 ttcaaggagg agaagcttgc agagcagctc aagcaagctg aggagctcag gcaatataaa
     1261 gtcctggttc actctcagga acgagagctg acgcagttaa aggagaagtt acaggaaggg
     1321 agagatgcct cccgctcatt gaatgagcat ctccaggccc tcctcactct ggatgagccg
     1381 gacaagtccc aggggcagga cctccaagaa cagctggctg aggggtgtag actggcacag
     1441 caccttgtcc aaaagctcag cccagaaaat gacgaagatg aggatgaaga tgttcaagtt
     1501 gaggaggatg agaaagtgca gaaatcatct gcccccaggg aggtgcagaa ggctgaagag
     1561 agcaaagtcc ctgaggactc actggaggaa tgtgccatca cttgttcaaa tagccacggc
     1621 ccttgtgact ccaaccagcc tcacaagaac atcaaaatca catttgagga agacgaagtc
     1681 aactcaactc tggttgtaga cagagaatcc tctcatgatg aatgtcagga tgctctaaac
     1741 attctctcag tccctggccc cacctcttct gccacaaacg tcagcatggt ggtatcagcc
     1801 ggccctttgt ccagcgagaa ggcagagatg aacattctag aaatcaatga gaaattgcac
     1861 ccccagctgg cagagaagaa acagcagttc agaaacctca aagagaaatg ttttctaact
     1921 caactggccg gcttcctggc caaccgacag aacaaataca aatatgaaga gtgcaaagat
     1981 ctcataaaat ctatgctgag gaatgagcga cagttcaagg aggagaagct tgcagagcag
     2041 ctcaagcaag ctgaggagct caggcaatat aaagtcctgg ttcacactca ggaacgagag
     2101 ctgacccagt taagggagaa gttgcgggaa gggagagatg cctccctctc attgaatgag
     2161 catctccagg ccctcctcac tccggatgag ccggacaagt cccaggggca ggacctccaa
     2221 gaacagctgg ctgaggggtg tagactggca cagcaccttg tccaaaagct cagcccagaa
     2281 aatgacaacg atgacgatga agatgttcaa gttgaggtgg ctgagaaagt gcagaaatcg
     2341 tctgccccca gggagatgca gaaggctgaa gaaaaggaag tccctgagga ctcactggag
     2401 gaatgtgcca tcacttattc aaatagccat ggcccttatg actccaacca gccacatagg
     2461 aaaaccaaaa tcacatttga ggaagacaaa gtcgactcag ctctcattgg ctcatcctct
     2521 catgttgaat gggaggatgc tgtacacatt attccagaaa atgaaagtga tgatgaggaa
     2581 gaggaagaaa aaggaccagt gtctcccagg aatctgcagg agtctgaaga ggaggaagtc
     2641 ccccaggagt cctgggatga aggttattcg actctctcaa ttcctcctga aatgttggcc
     2701 tcgtacaagt cttacagcag cacatttcac tcattagagg aacagcaagt ctgcatggct
     2761 gttgacatag gcagacatcg gtgggatcaa gtgaaaaagg aggaccaaga ggcaacaggt
     2821 cccaggctca gcagggagct gctggatgag aaagggcctg aagtcttgca ggactcactg
     2881 gatagatgtt attcaactcc ttcaggttgc cttgaactga ctgactcatg ccagccctac
     2941 agaagtgcgt tttacatatt ggagcaacag cgtgttggct tggctgttga catggatgaa
     3001 attgaaaagt accaagaagt ggaagaagac caagacccat catgccccag gctcagcagg
     3061 gagctgctgg atgagaaaga gcctgaagtc ttgcaggact cactggatag atgttattcg
     3121 actccttcag gttatcttga actgcctgac ttaggccagc cctacagcag tgctgtttac
     3181 tcattggagg aacagtacct tggcttggct cttgacgtgg acagaattaa aaaggaccaa
     3241 gaagaggaag aagaccaagg cccaccatgc cccaggctca gcagggagct gctggaggta
     3301 gtagagcctg aagtcttgca ggactcactg gatagatgtt attcaactcc ttccagttgt
     3361 cttgaacagc ctgactcctg ccagccgtat ggaagttcct tttatgcatt ggaggaaaaa
     3421 catgttggct tttctcttga cgtgggagaa attgaaaaga aggggaaggg gaagataaga
     3481 aggggaagaa gatcaaagaa gaaaagaaga aggggaagaa aagaagggga agaagatcaa
     3541 aacccaccat gccccaggct caacagcgtg ctgatggaag tggaagagcc tgaagtctta
     3601 caggactcac tggatagatg ttattcgact ccatcaatgt actgtgaact acgtgactca
     3661 ttccagcact acagaagtgt gttttactca tttgaggaac agcacatcag ctttgccctt
     3721 gacatggaca ataggttctt tactttgacg gtgacaagtc tctatctggt cttccagatg
     3781 ggagtcatat tcccacaata agcagccctt actaagccga gaggtgtcat tcctgcaggc
     3841 aggacctata ggcgcctgaa gatttgaatg aaactatagt tccatttgga agcccagaca
     3901 taggatgggt cagtgggcat ggctctattc ctattctcag agcatgccag tggcaacctg
     3961 tgctcagtct gaagacaatg gacccacgtt aggtgtgaca cgttcacata actgtgcagc
     4021 acatgccggg agtgatcagt cggacatttt aatttgaacc acgtatctct gggtagctac
     4081 aaaattcctc agggatttca ttttgcaggc atgtctctga gcttctatac ctgctcaagg
     4141 tcattgtcat ctttgtgttt agctcatcca aaggtgttac cctggtttca atgaacctaa
     4201 cctcattctt tgtgtcttca gtgttggctt gttttagctg atccatctgt aacacaggag
     4261 ggatccttgg ctgaggattg tatttcagaa ccaccaactg ctcttgacaa ttgttaaccc
     4321 gctaggctcc tttggttaga gaagccacag tccttcagcc tccaattggt gtcagtactt
     4381 aggaagacca cagctagatg gacaaacagc attgggaggc cttagccctg ctcctctcaa
     4441 ttccatcctg tagagaacag gagtcaggag ccgctggcag gagacagcat gtcacccagg
     4501 actctgccgg tgcagaatat gagcaatgcc atgttcttgc agaaaacgct taacctgagt
     4561 ttcataggag gtaatcacca gacaactgca gaatgtagaa cactgagcag gacaactgac
     4621 ctgtctcctt cacatagtcc atatcaccac aaatcacaca acaaaaagga gaagagatat
     4681 tttcggttga aaaaaagtaa aaagataatg tagctgcatt tctttagtta ttttgaaccc
     4741 caaatatttc ctcatctttt tgttgttgtc atggatggtg gtgacatgga cttgtttata
     4801 gaggacaggt cagctgtctg gctcaatgat ctacattctg aagttgtctg aaaatgtctt
     4861 catgattaaa ttcagcctaa acgttttgcc gggaacactg cagagacaat gctgtgagtt
     4921 tccaacctca gcccatctgc gggcagagaa ggtctagttt gtccatcacc attatgatat
     4981 caggactggt tacttggtta aggaggggtc taggagatct gtccctttta gagacacctt
     5041 acttataatg aagtacttgg gaaagcagtt ttcaagagta taaatatcct gtattctaat
     5101 gatcatcctc taaacatttt atcatttatt aatcctccct gcctgtgtct attattatat
     5161 tcatatctct acactgcaaa ttttgggtct caatttttac tgtgcctttg tttttactag
     5221 tgtctgctgt tgcaaaaaga agaaaacatt ctctgcctga gttttaattt ttgtccaaag
     5281 ttaattttaa tctatacaat taaaaccttt tgcctatcac tctggacttt tggattgttt
     5341 ttcacattca gtgttataat atttgattat gctgattggt tttggtgggt actgatgcga
     5401 attaataaaa acatttcatt tccatgttta ttttgtaatc tcttccacat tgtaggctat
     5461 gtttaccata cgtagcagaa tgtgtttaca tttcttggtt ctagtcattt gtattcttcg
     5521 tgagtgtgag agtgtgtgtg tgcgtgtgtg tgtctgtgtg tgcctttggc atttaggaag
     5581 ggttgtatag ctcatgttaa atattgcact aaaaatgttt ttgatggttt tcctcccttt
     5641 gaactagaca cacttctaat atttggttta tagttttaaa ttataacttt cagcatcaaa
     5701 tatttccata caacagtcaa ttacatgatg tgttttcttt ttcctacctc ctttacctgc
     5761 cacttctcat aatagtattt gaacctaaac atataccggt gacattctgt gattatcatc
     5821 ttgcccctac cttggttttt ggtttagatc cacaatgaaa tatattaacg ctcatgagct
     5881 attcaaaagt gaatgtcaca gtcatcactt gctgagtggt actcatcctt aacagagtcc
     5941 tcatgaggga atcaggtctc gctgagttta gcatgtttaa taatcttttc tcacggtctc
     6001 gatacatgga tcgcattact agatataagg tgcttgccca aaatgatttt tctggagttt
     6061 ttaggagata ttgtcctcct tgggggacat acatggtgta tgttctcatt gtgggattcg
     6121 attttgttct accaggacct ctaatttctg ccagttactt cactcatttg ttctcttcac
     6181 catgagtctc cagaggatac ttccatggtc cgtgcctccc catctcccag taattctgca
     6241 tttccaagat tggcacctct ggtcctctgc acggtgaagc cccttccttt caattcccca
     6301 gtagccagtg ctctaatcca ccaggtctca ggcatgatct atgtttctcc acactcgctt
     6361 tctgaggata gttttgcctg ggttctatca tgaacaggcc ctccctgctg tcctggcctc
     6421 tatttgcata gtgtttcctg ctccctctgc cgtcgtgtgg ctcccagacc tggctaaaga
     6481 aaatcacctg agggccacag tgttccctag ccctggtgtt taggggcagg attatgggtg
     6541 agatttttga gtctctaagt tgacccctac ggctctgaag tgtatgttga gaaattcagc
     6601 tgttatcatc ctaggtggac ttgctccctc ctatcctcct acttcaaatg cagaacttca
     6661 atcgtttaca aaagaagact gaatcgtata atagaacaca cccttattca ttggctggct
     6721 tcaccaatct cgtggctgaa cttgtaaaaa tacaatctta gccacatacc tatgaaatgt
     6781 atatgtgtgt gtatatatat acatgaattt gcttctgaga ttatggaggc tgaaattccc
     6841 aagatggaag gaaagctgga tacccaggaa agcatttgtt tcccattagg cctcttaatt
     6901 ctctcctggc ccttgattga ttgcatgagg cccaccccta ttaaggaggg caatctgctt
     6961 cacttagtct gcccatccca atgttaatcg tatctgaaag actctctgga acacaaccag
     7021 aatcatgttt ggccaaatgt cctggcaccc tggtgctcgg tcacagtgac aagtacaagt
     7081 aactatcaca catgcccttt gtcatattgg tgatttccac tgtttttctc ccaaactgca
     7141 gcttatattt gttctcttag tactgttgag caaaaactta atttttataa agtcgaattt
     7201 atcaatgttt tctttaatgg tttgtgttta ttgataataa agaacacttt acctaa
//
LOCUS       NM_001037540            2887 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens Scm polycomb group protein like 1 (SCML1), transcript
            variant 1, mRNA.
ACCESSION   NM_001037540
VERSION     NM_001037540.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2887)
  AUTHORS   Accogli A, Traverso M, Madia F, Bellini T, Vari MS, Pinto F and
            Capra V.
  TITLE     A novel Xp22.13 microdeletion in Nance-Horan syndrome
  JOURNAL   Birth Defects Res 109 (11), 866-868 (2017)
   PUBMED   28464487
  REMARK    GeneRIF: Here, we report a microdeletion of 170,6 Kb at Xp22.13
            (17.733.948-17.904.576) (GRCh37/hg19).The microdeletion harbors the
            NHS, SCLML1, and RAI2 genes and results in a phenotype consistent
            with Nance-Horan syndromesyndrome and developmental delay
REFERENCE   2  (bases 1 to 2887)
  AUTHORS   Wu HH and Su B.
  TITLE     Adaptive evolution of SCML1 in primates, a gene involved in male
            reproduction
  JOURNAL   BMC Evol Biol 8, 192 (2008)
   PUBMED   18601738
  REMARK    GeneRIF: the molecular evolutionary pattern of SCML1 in diverse
            primate species showed a strong signature of adaptive evolution
            which is caused by Darwinian positive selection Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 2887)
  AUTHORS   van de Vosse E, Walpole SM, Nicolaou A, van der Bent P, Cahn A,
            Vaudin M, Ross MT, Durham J, Pavitt R, Wilkinson J, Grafham D,
            Bergen AA, van Ommen GJ, Yates JR, den Dunnen JT and Trump D.
  TITLE     Characterization of SCML1, a new gene in Xp22, with homology to
            developmental polycomb genes
  JOURNAL   Genomics 49 (1), 96-102 (1998)
   PUBMED   9570953
REFERENCE   4  (bases 1 to 2887)
  AUTHORS   Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH,
            Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.236955.1,
            SRR5189667.203827.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145122 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380041.8/ ENSP00000369380.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC026159.2, BI461014.1, AF160728.1 and AA382395.1.
            On Nov 22, 2018 this sequence version replaced NM_001037540.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2887
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.13"
     gene            1..2887
                     /gene="SCML1"
                     /note="Scm polycomb group protein like 1"
                     /db_xref="GeneID:6322"
                     /db_xref="HGNC:HGNC:10580"
                     /db_xref="MIM:300227"
     misc_feature    257..259
                     /gene="SCML1"
                     /note="upstream in-frame stop codon"
     CDS             305..1294
                     /gene="SCML1"
                     /note="isoform a is encoded by transcript variant 1; sex
                     comb on midleg-like protein 1; sex comb on midleg like 1"
                     /codon_start=1
                     /product="sex comb on midleg-like protein 1 isoform a"
                     /protein_id="NP_001032629.1"
                     /db_xref="CCDS:CCDS35210.1"
                     /db_xref="GeneID:6322"
                     /db_xref="HGNC:HGNC:10580"
                     /db_xref="MIM:300227"
                     /translation="MMSNSSSEIDVIKTRIPTYDEDDNTILYAYETKPEFVNKEPNIVS
                     DASCNTEEQLKTVDDVLIHCQVIYDALQNLDKKIDVIRRKVSKIQRFHARSLWTNHKRY
                     GYKKHSYRLVKKLKLQKMKKNEVYETFSYPESYSPTLPVSRRENNSPSNLPRPSFCMEE
                     YQRAELEEDPILSRTPSPVHPSDFSEHNCQPYYASDGATYGSSSGLCLGNPRADSIHNT
                     YSTDHASAAPPSVTRSPVENDGYIEEGSITKHPSTWSVEAVVLFLKQTDPLALCPLVDL
                     FRSHEIDGKALLLLTSDVLLKHLGVKLGTAVKLCYYIDRLKQGKCFEN"
     misc_feature    716..775
                     /gene="SCML1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UN30.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    716..718
                     /gene="SCML1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9UN30.2); phosphorylation site"
     misc_feature    1016..1018
                     /gene="SCML1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q9UN30.2); phosphorylation site"
     regulatory      2863..2868
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCML1"
                     /note="hexamer: AATAAA"
     polyA_site      2887
                     /gene="SCML1"
                     /note="major polyA site"
ORIGIN
        1 actcaggggt cagggcatca ctggtctcgc gtgcgcgtga ccaggcccgg tttccggtgc
       61 caggaccttt ccgaagcgtc gagtggccta acggtcacag ctgtcgccca tcggagaggc
      121 aggactactg cgagcagttt taccgcgacc tccggaggcc ggcgtgacag gctctgtcac
      181 taaaatagga gtagaggttt accactctta ggtgactaag cagtatcaca aataaaccct
      241 ccagcaagtt taaaaataat taggtccaac tcagaggaag tggagtttct cctgttgcac
      301 aaaaatgatg tctaacagct ccagtgaaat cgatgtgata aaaacaagaa tacctactta
      361 cgatgaagat gacaacacta ttctttatgc gtatgaaaca aaacctgaat ttgtcaataa
      421 agaaccgaat attgtatctg acgcatcctg taatactgaa gagcaactga agacagttga
      481 tgatgtcctt attcattgcc aggttatata tgatgctctg caaaacctgg ataagaagat
      541 tgatgtgatt cgtagaaagg tttcaaaaat ccaacgtttc catgcgagat ccctgtggac
      601 aaatcataag cgatatggat ataaaaagca ttcttaccgg cttgttaaaa agcttaaact
      661 ccagaaaatg aagaaaaatg aggtttacga gacattctcc taccctgaaa gttacagccc
      721 cactttacca gtgtcaaggc gtgagaataa ttccccgagc aaccttccaa ggccatcctt
      781 ttgcatggaa gaataccagc gagctgagct ggaggaggac ccgatcctca gccgcactcc
      841 gagtccagtg catccctcag atttctctga gcataattgt cagccgtatt atgcatctga
      901 tggtgcaacg tatggttctt cttcagggct ctgccttggc aaccctcggg ctgacagcat
      961 ccacaacact tactcaactg accatgcttc tgcagcacca ccttcagtta caaggtcacc
     1021 agttgaaaat gacggttaca tagaggaagg aagcatcact aagcaccctt caacctggtc
     1081 ggtggaagca gtggtcctat ttctaaaaca aacagatcct cttgcattat gccctcttgt
     1141 cgacctcttc agaagccatg aaattgacgg gaaggctctg ctcctactca cgagtgacgt
     1201 gttgctgaag cacttggggg tgaagctggg aacggctgtg aagctatgct actacattga
     1261 ccgacttaaa caaggaaaat gctttgaaaa ttgaaaaaat ccttgtgcaa atttagattg
     1321 ggccaacttc tagaggcacc aatgccttct tagtgtggaa tcatttttct gccctttagt
     1381 cgtttttgtt ttgtagaaag tatctctcaa aatatattat agctagaatt gtagaactat
     1441 gttatagtcc agtctacttc tttaaaaacc atttaaactg ctagatagta ttagaatagt
     1501 ccaatagaaa attcattctt tataggtctt taaaaattac ttttattata ttgtttacaa
     1561 atatatttca tgcaagaaac agaaaaaaaa aaaaaccctt tgattctggt tcatctcgat
     1621 acagagaacc aaaacagcta agagaggtat tatcagggtt gacaactcct atgattgaat
     1681 ctatgggaat tattcctcag aagagaattt aaaggtgtac ccatatatat ctctttctgg
     1741 agtattttat ctgtctgatg ttgcagtatt ctacaagttt ccagaaagag aatagccata
     1801 taaattattt tcctttctgc tattatttct ctatatgttt tatttattca gatttagagt
     1861 aaaaaataag catataaact tttattatgt gctcttaaca gttttaagat aaactatagg
     1921 atagatagaa tggttatttt atgcaagaaa tattgtaccg caagggtggt ttggatgaag
     1981 tctgactact ttttttcaaa caaactatta tattaaaact gtcatatttt ggctaagttt
     2041 ggacctataa ctacactttc attgtttgca tctctctatg aagatacgtc tgtccaaact
     2101 tttaaaaggc ataactgtat tttatgtgtt tattctttat atagatagta ttttatattt
     2161 tattctcacc cgaagtattc acacaatctt tttaaaaaaa atttgaaatg gcattttgta
     2221 ttgccacaga ggtaggatga gccatatatt agtgaaatgt tttattttgt aaaatataaa
     2281 tggattattt gccatcatta gtacctctca acttactttt tagaggacaa gaaacaatct
     2341 gtagattggt ttccatacag ggaagttctc cgtcctatgc aatgtttcta attaatttgc
     2401 ttaattctga gccattaatc ctgctacact ttgaatgata cattaattca gactaatctt
     2461 tgggggcttt attttgtaag ttagaacttt caagggaaac atgttcaaca ctattatttt
     2521 gttataaatt tataactttg ttattacatt gtgtaacaaa tataaggttt acgagctatg
     2581 agaattggtg ctatcaccat tagctatttg ctgtaatgtc aagaaaatgt tcaccagatg
     2641 caagaatgta ccttttcttt ttagaaagcc aaatgtactt tagacatgaa tgcaactatt
     2701 taaagaatag cttcatcaat gttattcctt acatgtcata agattcttac ttaaacttgg
     2761 tcttctttca aattgtttgt atgaagatgc tgtacccact tgaacagtcc tcaggtgttt
     2821 acataaatac tatgttttac agttttcata ttttaaaata ttaataaagt taaatcacaa
     2881 tagttca
//
LOCUS       NM_001037558            1428 bp    mRNA    linear   PRI 25-SEP-2023
DEFINITION  Homo sapiens hepatocellular carcinoma, down-regulated 1 (HEPN1),
            mRNA.
ACCESSION   NM_001037558
VERSION     NM_001037558.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1428)
  AUTHORS   Hu S, Tao R, Wang S, Wang C, Zhao X, Zhao H, Li L, Zhu S, He Y,
            Jiang X and Gao Y.
  TITLE     MicroRNA-21 promotes cell proliferation in human hepatocellular
            carcinoma partly by targeting HEPN1
  JOURNAL   Tumour Biol 36 (7), 5467-5472 (2015)
   PUBMED   25687183
  REMARK    GeneRIF: the current study suggested an underlying mechanism that
            miR-21 directly target HEPN1 and inhibit its expression during the
            carcinogenesis of HCC. HEPN1 may thus be a candidate as a
            therapeutic target for patients with HCC.
REFERENCE   2  (bases 1 to 1428)
  AUTHORS   Kim HS and Jung G.
  TITLE     Reactive oxygen species increase HEPN1 expression via activation of
            the XBP1 transcription factor
  JOURNAL   FEBS Lett 588 (23), 4413-4421 (2014)
   PUBMED   25448679
  REMARK    GeneRIF: ROS increase production of an alternately spliced form of
            X-box binding protein 1 (XBP1s) and XBP1s increases HEPN1 expression
            by binding to the HEPN1 promoter
REFERENCE   3  (bases 1 to 1428)
  AUTHORS   Moh MC, Zhang C, Luo C, Lee LH and Shen S.
  TITLE     Structural and functional analyses of a novel ig-like cell adhesion
            molecule, hepaCAM, in the human breast carcinoma MCF7 cells
  JOURNAL   J Biol Chem 280 (29), 27366-27374 (2005)
   PUBMED   15917256
REFERENCE   4  (bases 1 to 1428)
  AUTHORS   Chung Moh M, Hoon Lee L and Shen S.
  TITLE     Cloning and characterization of hepaCAM, a novel Ig-like cell
            adhesion molecule suppressed in human hepatocellular carcinoma
  JOURNAL   J Hepatol 42 (6), 833-841 (2005)
   PUBMED   15885354
REFERENCE   5  (bases 1 to 1428)
  AUTHORS   Moh MC, Lee LH, Yang X and Shen S.
  TITLE     HEPN1, a novel gene that is frequently down-regulated in
            hepatocellular carcinoma, suppresses cell growth and induces
            apoptosis in HepG2 cells
  JOURNAL   J Hepatol 39 (4), 580-586 (2003)
   PUBMED   12971969
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AY275431.1, SRR14038191.1832721.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000408930.7/ ENSP00000386143.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003501.2.
            On May 13, 2022 this sequence version replaced NM_001037558.3.
            Summary: This gene is expressed predominantly in the liver.
            Transient transfection studies show the expression of this gene
            significantly inhibits cell growth, suggesting a role for this gene
            in apoptosis. Expression of this gene is down-regulated or lost in
            hepatocellular carcinomas (HCC), suggesting that loss of this gene
            is involved in carcinogenesis of hepatocytes (PMID:12971969). This
            gene maps to the 3'-noncoding region of the HEPACAM gene
            (GeneID:220296) on the antisense strand. [provided by RefSeq, Aug
            2020].
FEATURES             Location/Qualifiers
     source          1..1428
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..1428
                     /gene="HEPN1"
                     /note="hepatocellular carcinoma, down-regulated 1"
                     /db_xref="GeneID:641654"
                     /db_xref="HGNC:HGNC:34400"
                     /db_xref="MIM:611641"
     misc_feature    484..486
                     /gene="HEPN1"
                     /note="upstream in-frame stop codon"
     CDS             502..768
                     /gene="HEPN1"
                     /note="HEPACAM opposite strand 1; cancer susceptibility
                     gene HEPN1"
                     /codon_start=1
                     /product="putative cancer susceptibility gene HEPN1
                     protein"
                     /protein_id="NP_001032647.2"
                     /db_xref="GeneID:641654"
                     /db_xref="HGNC:HGNC:34400"
                     /db_xref="MIM:611641"
                     /translation="MGNWGLGIAPWVDGESELEFRRLGMQGPLEALRRREWNTQRASFS
                     FSFLIALSPHTVDYCHSYELFNRRWHGHVLATQRPSLFILMLV"
ORIGIN
        1 ttcatcaaaa gtttattgag catccagtat gtgctaggca ctctgctgga tgctagtaat
       61 acaaagatga agatgaaaac aacacaaaaa caaaccccac ttccttactt acccctcccc
      121 acccccaatt taaggcagat ttggcttaag cctggcaagc tggcccctca gggattcagc
      181 accagggtat ggcatgttct catctcaccc taaccttcac ctgtgcatct caaggctgac
      241 cagcaggtac tccttatcca agtcctgctg cctcttccac cttcttgaga aacttttccc
      301 ctacatgcat tatctcatta tggatgaggc acctgggaag tttaggggag ctgcgaaggc
      361 acacctgctc aaatgagcct ggggaagtgc cgagggacag ggagctgaga caggcatgct
      421 gtggggttca gggcagaggg ggcaaactag aaatgtcagt gcctttgggg ctgagacaaa
      481 acttgacctg gtgtggaggt gatgggtaac tggggccttg gaattgctcc atgggttgat
      541 ggcgaatcag agctggagtt taggagacta gggatgcaag gacccttgga ggcattaagg
      601 aggagggaat ggaatacaca gagggcctcc ttctctttca gctttttaat tgccctctct
      661 cctcacacag tagattactg ccactcctat gaactgttca ataggcggtg gcatgggcat
      721 gtcctggcta cacagcggcc cagcctcttt attttgatgt tagtgtgatt agggagtctg
      781 ccctttttct gtgccctggg acctgagcat gtgggagcag ggcagatggg tggcaggagg
      841 ccaggggttg gatcatgttc cccccaaatg ctgggaagca ataagcctcc tcctcccccc
      901 accatttctc tggagattag gacttattct cacagctgga ggaagctcaa caactttcct
      961 gaggacaatg attgtttgaa aggcttgttt tgtaaggaag ccaggaggaa tatatgagtt
     1021 tgatgagcta aaacagttcc tcatttggtc tagttttcgg gccaggggag taagtgaaat
     1081 tcacttctct ataagaataa gcccatccat ctcttttatt catgaacaga gacagaaaga
     1141 gtgcttggca tggcatgcct ccgagggagg ctgtgggagg aggccaagct ggcaggctcg
     1201 ggttctttgc ccttgctagc gcccaggtca gagggaaaag gaatgtactc gtacccttcc
     1261 ctcaccacct tgtaggtccc caggtaccag gtgcccaggg aagaaggcct tcacaatgat
     1321 ccccccagct cagaacagcc cctgcacacc cagtaaccgg catctggctt ctccttagct
     1381 tagtgcagct gtggattctg ggaaagtggc ctctctaatc tgaacttg
//
LOCUS       NM_001037582            3040 bp    mRNA    linear   PRI 20-APR-2023
DEFINITION  Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1,
            mRNA.
ACCESSION   NM_001037582
VERSION     NM_001037582.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3040)
  AUTHORS   Orosz G, Szabo L, Bereti S, Zambo V, Csala M and Kereszturi E.
  TITLE     Molecular Basis of Unequal Alternative Splicing of Human SCD5 and
            Its Alteration by Natural Genetic Variations
  JOURNAL   Int J Mol Sci 24 (7), 6517 (2023)
   PUBMED   37047490
  REMARK    GeneRIF: Molecular Basis of Unequal Alternative Splicing of Human
            SCD5 and Its Alteration by Natural Genetic Variations. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 3040)
  AUTHORS   Zambo V, Orosz G, Szabo L, Tibori K, Sipeki S, Molnar K, Csala M and
            Kereszturi E.
  TITLE     A Single Nucleotide Polymorphism (rs3811792) Affecting Human SCD5
            Promoter Activity Is Associated with Diabetes Mellitus
  JOURNAL   Genes (Basel) 13 (10), 1784 (2022)
   PUBMED   36292669
  REMARK    GeneRIF: A Single Nucleotide Polymorphism (rs3811792) Affecting
            Human SCD5 Promoter Activity Is Associated with Diabetes Mellitus.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3040)
  AUTHORS   Kanno T, Miyako K, Nakajima T, Yokoyama S, Sasamoto S, Asou HK,
            Ohara O, Nakayama T and Endo Y.
  TITLE     SCD2-mediated cooperative activation of IRF3-IRF9 regulatory circuit
            controls type I interferon transcriptome in CD4+ T cells
  JOURNAL   Front Immunol 13, 904875 (2022)
   PUBMED   36059459
  REMARK    GeneRIF: SCD2-mediated cooperative activation of IRF3-IRF9
            regulatory circuit controls type I interferon transcriptome in
            CD4(+) T cells. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3040)
  AUTHORS   Zhao W, Sun L, Li X, Wang J, Zhu Y, Jia Y and Tong Z.
  TITLE     SCD5 expression correlates with prognosis and response to
            neoadjuvant chemotherapy in breast cancer
  JOURNAL   Sci Rep 11 (1), 8976 (2021)
   PUBMED   33903614
  REMARK    GeneRIF: SCD5 expression correlates with prognosis and response to
            neoadjuvant chemotherapy in breast cancer. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 3040)
  AUTHORS   Igal RA and Sinner DI.
  TITLE     Stearoyl-CoA desaturase 5 (SCD5), a Delta-9 fatty acyl desaturase in
            search of a function
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1866 (1), 158840 (2021)
   PUBMED   33049404
  REMARK    GeneRIF: Stearoyl-CoA desaturase 5 (SCD5), a Delta-9 fatty acyl
            desaturase in search of a function. Review article
REFERENCE   6  (bases 1 to 3040)
  AUTHORS   Ma J, Dempsey AA, Stamatiou D, Marshall KW and Liew CC.
  TITLE     Identifying leukocyte gene expression patterns associated with
            plasma lipid levels in human subjects
  JOURNAL   Atherosclerosis 191 (1), 63-72 (2007)
   PUBMED   16806233
REFERENCE   7  (bases 1 to 3040)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   8  (bases 1 to 3040)
  AUTHORS   Wang J, Yu L, Schmidt RE, Su C, Huang X, Gould K and Cao G.
  TITLE     Characterization of HSCD5, a novel human stearoyl-CoA desaturase
            unique to primates
  JOURNAL   Biochem Biophys Res Commun 332 (3), 735-742 (2005)
   PUBMED   15907797
REFERENCE   9  (bases 1 to 3040)
  AUTHORS   Zhang S, Yang Y and Shi Y.
  TITLE     Characterization of human SCD2, an oligomeric desaturase with
            improved stability and enzyme activity by cross-linking in intact
            cells
  JOURNAL   Biochem J 388 (Pt 1), 135-142 (2005)
   PUBMED   15610069
  REMARK    GeneRIF: The identification and characterization of SCD2, and its
            relationship to human SCD1 and mouse SCD2, are reported.
REFERENCE   10  (bases 1 to 3040)
  AUTHORS   Beiraghi S, Zhou M, Talmadge CB, Went-Sumegi N, Davis JR, Huang D,
            Saal H, Seemayer TA and Sumegi J.
  TITLE     Identification and characterization of a novel gene disrupted by a
            pericentric inversion inv(4)(p13.1q21.1) in a family with cleft lip
  JOURNAL   Gene 309 (1), 11-21 (2003)
   PUBMED   12727354
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.747918.1,
            SRR1660809.146785.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000319540.9/ ENSP00000316329.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB479400.1, AF389338.1, DR763368.1 and BC048971.1.
            On Nov 23, 2018 this sequence version replaced NM_001037582.2.
            Summary: Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral
            membrane protein of the endoplasmic reticulum that catalyzes the
            formation of monounsaturated fatty acids from saturated fatty
            acids. SCD may be a key regulator of energy metabolism with a role
            in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4,
            have been identified in mouse. In contrast, only 2 SCD isoforms,
            SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1
            shares about 85% amino acid identity with all 4 mouse SCD isoforms,
            as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited
            homology with the rodent SCDs and appears to be unique to primates
            (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encoded the longer isoform (A).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3040
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.22"
     gene            1..3040
                     /gene="SCD5"
                     /gene_synonym="ACOD4; DFNA79; FADS4; HSCD5; SCD2; SCD4"
                     /note="stearoyl-CoA desaturase 5"
                     /db_xref="GeneID:79966"
                     /db_xref="HGNC:HGNC:21088"
                     /db_xref="MIM:608370"
     misc_feature    89..91
                     /gene="SCD5"
                     /gene_synonym="ACOD4; DFNA79; FADS4; HSCD5; SCD2; SCD4"
                     /note="upstream in-frame stop codon"
     CDS             260..1252
                     /gene="SCD5"
                     /gene_synonym="ACOD4; DFNA79; FADS4; HSCD5; SCD2; SCD4"
                     /EC_number="1.14.19.1"
                     /note="isoform a is encoded by transcript variant 1;
                     acyl-CoA-desaturase 4; stearoyl-CoA desaturase 4;
                     stearoyl-CoA 9-desaturase; stearoyl-CoA desaturase 2"
                     /codon_start=1
                     /product="stearoyl-CoA desaturase 5 isoform a"
                     /protein_id="NP_001032671.2"
                     /db_xref="CCDS:CCDS34024.1"
                     /db_xref="GeneID:79966"
                     /db_xref="HGNC:HGNC:21088"
                     /db_xref="MIM:608370"
                     /translation="MPGPATDAGKIPFCDAKEEIRAGLESSEGGGGPERPGARGQRQNI
                     VWRNVVLMSLLHLGAVYSLVLIPKAKPLTLLWAYFCFLLAALGVTAGAHRLWSHRSYRA
                     KLPLRIFLAVANSMAFQNDIFEWSRDHRAHHKYSETDADPHNARRGFFFSHIGWLFVRK
                     HRDVIEKGRKLDVTDLLADPVVRIQRKYYKISVVLMCFVVPTLVPWYIWGESLWNSYFL
                     ASILRYTISLNISWLVNSAAHMYGNRPYDKHISPRQNPLVALGAIGEGFHNYHHTFPFD
                     YSASEFGLNFNPTTWFIDFMCWLGLATDRKRATKPMIEARKARTGDSSA"
     misc_feature    407..469
                     /gene="SCD5"
                     /gene_synonym="ACOD4; DFNA79; FADS4; HSCD5; SCD2; SCD4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SK9.2);
                     transmembrane region"
     misc_feature    476..538
                     /gene="SCD5"
                     /gene_synonym="ACOD4; DFNA79; FADS4; HSCD5; SCD2; SCD4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SK9.2);
                     transmembrane region"
     misc_feature    539..556
                     /gene="SCD5"
                     /gene_synonym="ACOD4; DFNA79; FADS4; HSCD5; SCD2; SCD4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SK9.2);
                     Region: Histidine box-1. /evidence=ECO:0000305"
     misc_feature    650..664
                     /gene="SCD5"
                     /gene_synonym="ACOD4; DFNA79; FADS4; HSCD5; SCD2; SCD4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SK9.2);
                     Region: Histidine box-2. /evidence=ECO:0000305"
     misc_feature    839..901
                     /gene="SCD5"
                     /gene_synonym="ACOD4; DFNA79; FADS4; HSCD5; SCD2; SCD4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SK9.2);
                     transmembrane region"
     misc_feature    905..973
                     /gene="SCD5"
                     /gene_synonym="ACOD4; DFNA79; FADS4; HSCD5; SCD2; SCD4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SK9.2);
                     transmembrane region"
     misc_feature    1073..1087
                     /gene="SCD5"
                     /gene_synonym="ACOD4; DFNA79; FADS4; HSCD5; SCD2; SCD4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SK9.2);
                     Region: Histidine box-3. /evidence=ECO:0000305"
     regulatory      3021..3026
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCD5"
                     /gene_synonym="ACOD4; DFNA79; FADS4; HSCD5; SCD2; SCD4"
                     /note="hexamer: AATAAA"
     polyA_site      3040
                     /gene="SCD5"
                     /gene_synonym="ACOD4; DFNA79; FADS4; HSCD5; SCD2; SCD4"
                     /note="major polyA site"
ORIGIN
        1 ctcgcggccg agttcagccc gggcagccat atgggggata cgccagcaac agacgccggc
       61 cgccaagatc tgcatcccta ggccacgcta agaccctggg gaagagcgca ggagcccggg
      121 agaagggctg gaaggagggg actggacgtg cggagaattc ccccctaaaa ggcagaagcc
      181 cccgccccca ccctcgagct ccgctcgggc agagcgcctg cctgcctgcc gctgctgcgg
      241 gcgcccacct cgcccagcca tgccaggccc ggccaccgac gcggggaaga tccctttctg
      301 cgacgccaag gaagaaatcc gtgccgggct cgaaagctct gagggcggcg gcggcccgga
      361 gaggccaggc gcgcgcgggc agcggcagaa catcgtctgg aggaatgtcg tcctgatgag
      421 cttgctccac ttgggggccg tgtactccct ggtgctcatc cccaaagcca agccactcac
      481 tctgctctgg gcctacttct gcttcctcct ggccgctctg ggtgtgacag ctggtgccca
      541 tcgcttgtgg agccacaggt cctaccgggc caagctgcct ctgaggatat ttctggctgt
      601 cgccaactcc atggctttcc agaatgacat cttcgagtgg tccagggacc accgagccca
      661 ccacaagtac tcagagacgg atgctgaccc ccacaatgcc cgccggggct tcttcttctc
      721 ccatattggg tggctgtttg ttcgcaagca tcgagatgtt attgagaagg ggagaaagct
      781 tgacgtcact gacctgcttg ctgatcctgt ggtccggatc cagagaaagt actataagat
      841 ctccgtggtg ctcatgtgct ttgtggtccc cacgctggtg ccctggtaca tctggggaga
      901 gagtctgtgg aattcctact tcttggcctc tattctccgc tataccatct cactcaacat
      961 cagctggctg gtcaacagcg ccgcccacat gtatggaaac cggccctatg acaagcacat
     1021 cagccctcgg cagaacccac tcgtcgctct gggtgccatt ggtgaaggct tccataatta
     1081 ccatcacacc tttccctttg actactctgc gagtgaattt ggcttaaatt ttaacccaac
     1141 cacctggttc attgatttca tgtgctggct ggggctggcc actgaccgca aacgggcaac
     1201 caagccgatg atcgaggccc ggaaggccag gactggagac agcagtgctt gaacttggaa
     1261 cagccatccc acatgtctgc cgttgcaacc tcggttcatg gctttggtta caatagctct
     1321 cttgtacatt ggatcgtggg agggggcaga gggtggggaa ggaacgagtc aatgtggttt
     1381 gggaatgttt ttgtttatct caaaataatg ttgaaataca attatcaatg aaaaaacttt
     1441 cgtttttttt tttgtttgtt ttgtttttga gacagagtct cactctgtca cccaggctgg
     1501 agtgcagtgg cgcagtctcg gctcactgca gcctccacct acctggttca agcaattctc
     1561 ctgcctcagc ctcctgagta gctgagatta caggagcctg ccaccacacc cagctaattt
     1621 ttttgtattt ttagtagaga cagggtttca tcatgttggc cagactggcc tcgaattcct
     1681 gacctcaggc aatccacccg cctcggcctc ccaaagagct gggattacag gcgtgagcca
     1741 ccgcaccctg ccgaaaaaaa cttttttttt tttgagacgg aggctcgctc tgtcccccag
     1801 gctggagtgc agtggcgaga tctcagctca ctgcaagctc cgcctcccgg gttcacgcca
     1861 ttctcctgcc tcagcctccc gagtagctgg gagccagcgc gcccagccta aaaaactttt
     1921 caagtcaata ttactacgat ttaacattag agtgtggaca tgtgatttaa tcgctatagc
     1981 taaaatacgt caaatatacg ttgtcatgtg cttgaacatg atgctaaccc tgacaggatg
     2041 aaggaaagta atattctttc agtgtagttc aggagagcat ttgttttctt ttctaccaat
     2101 taacccatca ttgcttttaa acaaccatct gaaggagcag agaggcaggg tagaagacag
     2161 aagggggatc tatgtggtaa ctaaagaatg tttctgtttt gttaattatt gtgtgtgtgt
     2221 ggttttattg tttgcttaag agaatcaaaa actgaaaaaa atgagaatac aggaaatggc
     2281 tcttgtttat ttttttgctg tgtttacagc ttgttaatgc tctactgtct ttgtttcaag
     2341 agagatttgt tcactgccca gctcgttttg tgtcctgagc cctatggcca gcccacctta
     2401 taaatcatgc ctgtttagat gtttgatttt gttctgtttg ctattgttat cttaaaggtg
     2461 tataactctg acatgccaga catcaaatta agctcaaatt aagctctcgt ttaaatgttt
     2521 aagcacctaa tttatattct aattgatccc agccactgat gcatgtactt tagctacttc
     2581 tgctaaataa gcatattaat tttccacatc agaccatcag atcttgagaa ccaacagtta
     2641 tctagaattc cgtgtctact aatgtttcac ctgcatgcag ccttcattaa ttttgtagca
     2701 aaatataaag tgatcattat gtagcttctg gattaaaaaa atttgtgtgt gaagttgctt
     2761 tgtaaagtgc atgtggaatt aatgggacag tgtgcccttt gtgttagatg ttagagcaaa
     2821 agaaagggct tatagtgtta gtattggagc actttgaaga tagatatttt cagaaaagat
     2881 gtaggattta aaagttaaat tttaaatttt agaaaaagat atgatggcaa ttggaaatag
     2941 tcacaatgaa gttcttcatc cagtaggtgt ttaacagtgt tattttgcca ctggtaatgt
     3001 gtaaactgtg agtgatttac aataaatgat tatgaattca
//
LOCUS       NM_001037637            1276 bp    mRNA    linear   PRI 13-JUL-2023
DEFINITION  Homo sapiens basic transcription factor 3 (BTF3), transcript variant
            1, mRNA.
ACCESSION   NM_001037637
VERSION     NM_001037637.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1276)
  AUTHORS   Wang P, Sun J, Sun C, Zhao H, Zhang Y and Chen J.
  TITLE     BTF3 promotes proliferation and glycolysis in hepatocellular
            carcinoma by regulating GLUT1
  JOURNAL   Cancer Biol Ther 24 (1), 2225884 (2023)
   PUBMED   37382415
  REMARK    GeneRIF: BTF3 promotes proliferation and glycolysis in
            hepatocellular carcinoma by regulating GLUT1.
REFERENCE   2  (bases 1 to 1276)
  AUTHORS   Zhou W, Yun Z, Wang T, Li C and Zhang J.
  TITLE     BTF3-mediated regulation of BMI1 promotes colorectal cancer through
            influencing epithelial-mesenchymal transition and stem cell-like
            traits
  JOURNAL   Int J Biol Macromol 187, 800-810 (2021)
   PUBMED   34293363
  REMARK    GeneRIF: BTF3-mediated regulation of BMI1 promotes colorectal cancer
            through influencing epithelial-mesenchymal transition and stem
            cell-like traits.
REFERENCE   3  (bases 1 to 1276)
  AUTHORS   Wang H, Gao L, Qi M, Su P, Xiong X, Zhao J, Hu J and Han B.
  TITLE     BTF3 promotes stemness and inhibits TypeInterferon signaling pathway
            in triple-negative breast cancer
  JOURNAL   Biochem Biophys Res Commun 537, 22-28 (2021)
   PUBMED   33383560
  REMARK    GeneRIF: BTF3 promotes stemness and inhibits TypeInterferon
            signaling pathway in triple-negative breast cancer.
REFERENCE   4  (bases 1 to 1276)
  AUTHORS   Zhang Y, Gao X, Yi J, Sang X, Dai Z, Tao Z, Wang M, Shen L, Jia Y,
            Xie D, Cheng H, Liu Z and Liu P.
  TITLE     BTF3 confers oncogenic activity in prostate cancer through
            transcriptional upregulation of Replication Factor C
  JOURNAL   Cell Death Dis 12 (1), 12 (2021)
   PUBMED   33414468
  REMARK    GeneRIF: BTF3 confers oncogenic activity in prostate cancer through
            transcriptional upregulation of Replication Factor C. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 1276)
  AUTHORS   Wu X, Liu L and Zhang H.
  TITLE     miR-802 inhibits the epithelial-mesenchymal transition, migration
            and invasion of cervical cancer by regulating BTF3
  JOURNAL   Mol Med Rep 22 (3), 1883-1891 (2020)
   PUBMED   32582971
  REMARK    GeneRIF: miR802 inhibits the epithelialmesenchymal transition,
            migration and invasion of cervical cancer by regulating BTF3.
REFERENCE   6  (bases 1 to 1276)
  AUTHORS   Beatrix B, Sakai H and Wiedmann M.
  TITLE     The alpha and beta subunit of the nascent polypeptide-associated
            complex have distinct functions
  JOURNAL   J Biol Chem 275 (48), 37838-37845 (2000)
   PUBMED   10982809
REFERENCE   7  (bases 1 to 1276)
  AUTHORS   Grein S and Pyerin W.
  TITLE     BTF3 is a potential new substrate of protein kinase CK2
  JOURNAL   Mol Cell Biochem 191 (1-2), 121-128 (1999)
   PUBMED   10094400
REFERENCE   8  (bases 1 to 1276)
  AUTHORS   Wiedmann B, Sakai H, Davis TA and Wiedmann M.
  TITLE     A protein complex required for signal-sequence-specific sorting and
            translocation
  JOURNAL   Nature 370 (6489), 434-440 (1994)
   PUBMED   8047162
REFERENCE   9  (bases 1 to 1276)
  AUTHORS   Kanno M, Chalut C and Egly JM.
  TITLE     Genomic structure of the putative BTF3 transcription factor
  JOURNAL   Gene 117 (2), 219-228 (1992)
   PUBMED   1386332
REFERENCE   10  (bases 1 to 1276)
  AUTHORS   Zheng XM, Black D, Chambon P and Egly JM.
  TITLE     Sequencing and expression of complementary DNA for the general
            transcription factor BTF3
  JOURNAL   Nature 344 (6266), 556-559 (1990)
   PUBMED   2320128
  REMARK    GeneRIF: In addition to RNA polymerase II (otherwise RNA pol II, RNA
            polymerase B), four general transcription factors are required for
            initiation of transcription: BTF1 (also referred to as TFIID) which
            has recently been cloned from yeast, BTF2, BTF3 and STF.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX359147.2, BX359146.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380591.8/ ENSP00000369965.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU661989.1, BX359147.2,
            BG182166.1 and AC099522.3.
            On Aug 13, 2020 this sequence version replaced NM_001037637.1.
            Summary: This gene encodes the basic transcription factor 3. This
            protein forms a stable complex with RNA polymerase IIB and is
            required for transcriptional initiation. Alternative splicing
            results in multiple transcript variants encoding different
            isoforms. This gene has multiple pseudogenes. [provided by RefSeq,
            Jul 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (A).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1276
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..1276
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
                     /note="basic transcription factor 3"
                     /db_xref="GeneID:689"
                     /db_xref="HGNC:HGNC:1125"
                     /db_xref="MIM:602542"
     misc_feature    179..181
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
                     /note="upstream in-frame stop codon"
     CDS             227..847
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
                     /note="isoform A is encoded by transcript variant 1; RNA
                     polymerase B transcription factor 3; transcription factor
                     BTF3; nascent-polypeptide-associated complex beta
                     polypeptide; NAC-beta; nascent polypeptide-associated
                     complex subunit beta"
                     /codon_start=1
                     /product="transcription factor BTF3 isoform A"
                     /protein_id="NP_001032726.1"
                     /db_xref="CCDS:CCDS34185.1"
                     /db_xref="GeneID:689"
                     /db_xref="HGNC:HGNC:1125"
                     /db_xref="MIM:602542"
                     /translation="MRRTGAPAQADSRGRGRARGGCPGGEATLSQPPPRGGTRGQEPQM
                     KETIMNQEKLAKLQAQVRIGGKGTARRKKKVVHRTATADDKKLQFSLKKLGVNNISGIE
                     EVNMFTNQGTVIHFNNPKVQASLAANTFTITGHAETKQLTEMLPSILNQLGADSLTSLR
                     RLAEALPKQSVDGKAPLATGEDDDDEVPDLVENFDEASKNEAN"
     misc_feature    227..352
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
                     /note="propagated from UniProtKB/Swiss-Prot (P20290.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    281..283
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P20290.1); methylation site"
     misc_feature    314..316
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P20290.1); phosphorylation site"
     misc_feature    362..364
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
                     /note="N6-methyllysine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P20290.1); methylation site"
     misc_feature    386..388
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
                     /note="N6-methyllysine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P20290.1); methylation site"
     misc_feature    704..706
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P20290.1); phosphorylation site"
     misc_feature    734..844
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
                     /note="propagated from UniProtKB/Swiss-Prot (P20290.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    743..745
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P20290.1); phosphorylation site"
     regulatory      1084..1089
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
                     /note="hexamer: AATAAA"
     polyA_site      1104
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
                     /note="major polyA site"
     regulatory      1214..1219
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
                     /note="hexamer: ATTAAA"
     polyA_site      1231
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
     regulatory      1254..1259
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
                     /note="hexamer: TATAAA"
     polyA_site      1276
                     /gene="BTF3"
                     /gene_synonym="BETA-NAC; BTF3a; BTF3b; NACB"
ORIGIN
        1 ccctttagct gccatcttgc gtccccgcgt gtgtgcgcct aatctcaggt ggtccacccg
       61 agaccccttg agcaccaacc ctagtccccc gcgcggcccc ttattcgctc cgacaaggta
      121 caaaaaggct ctggacggcg gcgtggtagg aggacgggag cgggggcggg aagttccctg
      181 aaggagcgag acagggaggg acagggcaga ggaggagagg aaggcgatgc gacggacagg
      241 cgcacccgct caggctgact ctcgggggcg aggtcgagcc aggggcggct gccctggggg
      301 cgaggcgacg ctgtctcaac ctccacctcg cggcggaacc cgaggacagg agcctcagat
      361 gaaagaaaca atcatgaacc aggaaaaact cgccaaactg caggcacaag tgcgcattgg
      421 tgggaaagga actgctcgca gaaagaagaa ggtggttcat agaacagcca cagcagatga
      481 caaaaaactt cagttctcct taaagaagtt aggggtaaac aatatctctg gtattgaaga
      541 ggtgaatatg tttacaaacc aaggaacagt gatccacttt aacaacccta aagttcaggc
      601 atctctggca gcgaacactt tcaccattac aggccatgct gagacaaagc agctgacaga
      661 aatgctaccc agcatcttaa accagcttgg tgcggatagt ctgactagtt taaggagact
      721 ggccgaagct ctgcccaaac aatctgtgga tggaaaagca ccacttgcta ctggagagga
      781 tgatgatgat gaagttccag atcttgtgga gaattttgat gaggcttcca agaatgaggc
      841 aaactgaatt gagtcaactt ctgaagataa aacctgaaga agttactggg agctgctatt
      901 ttatattatg actgcttttt aagaaatttt tgtttatgga tctgataaaa tctagatctc
      961 taatattttt aagcccaagc cccttggaca ctgcagctct tttcagtttt tgcttataca
     1021 caattcattc tttgcagcta attaagccga agaagcctgg gaatcaagtt tgaaacaaag
     1081 attaataaag ttctttgcct agtatacagt tttatttttt tatttcattg acaccgatct
     1141 gtacacagta aaaaaaattg cttatagaaa gctaatcatg gcatgtaata tggctgataa
     1201 cctttggaat ttgattaaag atttaaaatc acggtgtagt gtaacaaagg tggtataaag
     1261 ttctcaggtt tgaaaa
//
LOCUS       NM_001037666            1501 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens cytosolic arginine sensor for mTORC1 subunit 1
            (CASTOR1), mRNA.
ACCESSION   NM_001037666
VERSION     NM_001037666.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1501)
  AUTHORS   Li T, Wang X, Ju E, da Silva SR, Chen L, Zhang X, Wei S and Gao SJ.
  TITLE     RNF167 activates mTORC1 and promotes tumorigenesis by targeting
            CASTOR1 for ubiquitination and degradation
  JOURNAL   Nat Commun 12 (1), 1055 (2021)
   PUBMED   33594058
  REMARK    GeneRIF: RNF167 activates mTORC1 and promotes tumorigenesis by
            targeting CASTOR1 for ubiquitination and degradation. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1501)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1501)
  AUTHORS   Sun L, Li X, Pan J, Mao J, Yuan Y, Wang D, Sun W, Krueger GRF and
            Wang G.
  TITLE     Seeking mTORC1 Inhibitors Through Molecular Dynamics Simulation of
            Arginine Analogs Inhibiting CASTOR1
  JOURNAL   Cancer Genomics Proteomics 16 (6), 465-479 (2019)
   PUBMED   31659101
  REMARK    GeneRIF: The binding free energy calculations revealed that
            Nalpha-acetyl-arginine, citrulline, and norarginine have sufficient
            binding affinity with CASTOR1 to compete with arginine. The hydrogen
            bond analysis revealed that norarginine, Nalpha-acetyl-arginine and
            D-arginine have proficient H-bonds that can facilitate their
            entering the narrow binding pocket.
REFERENCE   4  (bases 1 to 1501)
  AUTHORS   Li T, Ju E and Gao SJ.
  TITLE     Kaposi sarcoma-associated herpesvirus miRNAs suppress
            CASTOR1-mediated mTORC1 inhibition to promote tumorigenesis
  JOURNAL   J Clin Invest 129 (8), 3310-3323 (2019)
   PUBMED   31305263
  REMARK    GeneRIF: the KSHV-encoded miRNA miR-K4-5p, and probably miR-K1-5p,
            directly targeted CASTOR1 to inhibit its expression. Knockdown of
            miR-K1-5p and -K4-5p restored CASTOR1 expression and thereby
            attenuated mTORC1 activation. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1501)
  AUTHORS   Jung JW, Macalino SJY, Cui M, Kim JE, Kim HJ, Song DG, Nam SH, Kim
            S, Choi S and Lee JW.
  TITLE     Transmembrane 4 L Six Family Member 5 Senses Arginine for mTORC1
            Signaling
  JOURNAL   Cell Metab 29 (6), 1306-1319 (2019)
   PUBMED   30956113
REFERENCE   6  (bases 1 to 1501)
  AUTHORS   Chantranupong L, Scaria SM, Saxton RA, Gygi MP, Shen K, Wyant GA,
            Wang T, Harper JW, Gygi SP and Sabatini DM.
  TITLE     The CASTOR Proteins Are Arginine Sensors for the mTORC1 Pathway
  JOURNAL   Cell 165 (1), 153-164 (2016)
   PUBMED   26972053
  REMARK    GeneRIF: Study establishes the CASTOR1 homodimer and CASTOR1-CASTOR2
            heterodimer as arginine sensors for the mTORC1 pathway.
REFERENCE   7  (bases 1 to 1501)
  AUTHORS   Orozco G, Viatte S, Bowes J, Martin P, Wilson AG, Morgan AW, Steer
            S, Wordsworth P, Hocking LJ, Barton A, Worthington J and Eyre S.
  CONSRTM   UK Rheumatoid Arthritis Genetics Consortium; Wellcome Trust Case
            Control Consortium; Biologics in Rheumatoid Arthritis Genetics and
            Genomics Study Syndicate Consortium
  TITLE     Novel rheumatoid arthritis susceptibility locus at 22q12 identified
            in an extended UK genome-wide association study
  JOURNAL   Arthritis Rheumatol 66 (1), 24-30 (2014)
   PUBMED   24449572
  REMARK    GeneRIF: This genome wide association study identified a new
            rheumatoid arthritis susceptibility locus mapping to 22q12 in the
            GATSL3 gene.
REFERENCE   8  (bases 1 to 1501)
  AUTHORS   Kapranov P, Drenkow J, Cheng J, Long J, Helt G, Dike S and Gingeras
            TR.
  TITLE     Examples of the complex architecture of the human transcriptome
            revealed by RACE and high-density tiling arrays
  JOURNAL   Genome Res 15 (7), 987-997 (2005)
   PUBMED   15998911
REFERENCE   9  (bases 1 to 1501)
  AUTHORS   Cheng J, Kapranov P, Drenkow J, Dike S, Brubaker S, Patel S, Long J,
            Stern D, Tammana H, Helt G, Sementchenko V, Piccolboni A, Bekiranov
            S, Bailey DK, Ganesh M, Ghosh S, Bell I, Gerhard DS and Gingeras TR.
  TITLE     Transcriptional maps of 10 human chromosomes at 5-nucleotide
            resolution
  JOURNAL   Science 308 (5725), 1149-1154 (2005)
   PUBMED   15790807
REFERENCE   10  (bases 1 to 1501)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK055587.1, BC021927.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000407689.8/ ENSP00000384183.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA343534.1, AC004997.2 and BC021927.1.
            On Nov 30, 2019 this sequence version replaced NM_001037666.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1501
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..1501
                     /gene="CASTOR1"
                     /gene_synonym="GATSL3"
                     /note="cytosolic arginine sensor for mTORC1 subunit 1"
                     /db_xref="GeneID:652968"
                     /db_xref="HGNC:HGNC:34423"
                     /db_xref="MIM:617034"
     CDS             9..998
                     /gene="CASTOR1"
                     /gene_synonym="GATSL3"
                     /note="GATS-like protein 3; cellular arginine sensor for
                     mTORC1 protein 1; GATS protein like 3"
                     /codon_start=1
                     /product="cytosolic arginine sensor for mTORC1 subunit 1"
                     /protein_id="NP_001032755.1"
                     /db_xref="CCDS:CCDS43001.1"
                     /db_xref="GeneID:652968"
                     /db_xref="HGNC:HGNC:34423"
                     /db_xref="MIM:617034"
                     /translation="MELHILEHRVRVLSVARPGLWLYTHPLIKLLFLPRRSRCKFFSLT
                     ETPEDYTLMVDEEGFKELPPSEFLQVAEATWLVLNVSSHSGAAVQAAGVTKIARSVIAP
                     LAEHHVSVLMLSTYQTDFILVREQDLSVVIHTLAQEFDIYREVGGEPVPVTRDDSSNGF
                     PRTQHGPSPTVHPIQSPQNRFCVLTLDPETLPAIATTLIDVLFYSHSTPKEAASSSPEP
                     SSITFFAFSLIEGYISIVMDAETQKKFPSDLLLTSSSGELWRMVRIGGQPLGFDECGIV
                     AQIAGPLAAADISAYYISTFNFDHALVPEDGIGSVIEVLQRRQEGLAS"
     misc_feature    48..50
                     /gene="CASTOR1"
                     /gene_synonym="GATSL3"
                     /note="Phosphoserine, by PKB/AKT1.
                     /evidence=ECO:0000269|PubMed:33594058; propagated from
                     UniProtKB/Swiss-Prot (Q8WTX7.1); phosphorylation site"
     regulatory      1481..1486
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASTOR1"
                     /gene_synonym="GATSL3"
                     /note="hexamer: AATAAA"
     polyA_site      1501
                     /gene="CASTOR1"
                     /gene_synonym="GATSL3"
                     /note="major polyA site"
ORIGIN
        1 gagccgcgat ggagctgcac atcctagaac accgggtgcg ggtgctgagc gtcgcccgtc
       61 ccggtctctg gctctacacc cacccgctca tcaagctgct cttcctgccc cgccgcagcc
      121 ggtgcaagtt cttcagcctg acggagaccc ctgaggatta cacgcttatg gtggacgagg
      181 agggctttaa agagctgccc ccatctgagt tcctgcaagt agctgaggcc acatggctgg
      241 tgctgaacgt gtcgtctcac agcggtgcgg cagtgcaggc tgctggggtc accaagatcg
      301 cccgttcggt catcgcgcca ctggccgagc accacgtgtc tgtgctgatg ctgtccactt
      361 accagacgga cttcatcctg gtgcgggagc aggacctgtc cgtggtgatc cacacgctgg
      421 cccaggagtt cgacatttac cgcgaggtgg gcggagagcc tgtgcctgtg acgagggatg
      481 attccagcaa tggctttccc cgcactcagc atgggcccag ccccacggtg catcccatcc
      541 agagcccaca gaaccgcttc tgtgtcctca cactggaccc tgagacgctt ccagccatcg
      601 ccaccaccct catagatgtc ctcttctact cgcacagcac ccccaaggag gcagcctcta
      661 gcagtcctga acccagctcc atcacgttct ttgccttctc cctcatcgag ggttatatct
      721 ccattgtcat ggatgctgaa acacagaaaa agttccccag tgacctcctg ctgaccagct
      781 cctcggggga gctgtggagg atggtgcgca tcggtggaca gcccctgggc tttgatgaat
      841 gtggcatcgt ggcacagatt gcaggtcccc tggctgccgc tgacatctct gcctactaca
      901 tcagcacctt caacttcgac cacgccctgg tgcccgagga cggtatcggc agcgtcatcg
      961 aggtcctcca gcggcggcag gaaggcctgg cttcctgagg cccatgggca acagagcagc
     1021 ctccctgctc tcccctcgac ccaggcttcc aaagacttct ctaagctatt tccttaagct
     1081 ctggaacgag ccccctgttc tgctggggac cctcgttccg ctctctgtat gtaagctgcg
     1141 tgcaggcacc ggcttttacg cggacacctg tgtacactca caggtggagt gggcaggtgc
     1201 tagcctgact gcgtgtctgc ccatgcaggg gaacacggtg ctcggggctt aagcccccaa
     1261 cccatcactc cctgcgcagc ctcggcgttt gcacagtccc tgcctgaggc ctgagccatt
     1321 ccccaaaggc ttcctgggcc agctgccccg ctgacctccg ttctgcctct ggtggggttg
     1381 ccttccctgg ccaggtgagt cctgacagtg cctctccctc ctggggcctc caaggaaagt
     1441 attttgacat ctctctctct tctgttttta ttgacttgtt aataaaggac tttgtagtga
     1501 c
//
LOCUS       NM_001037668             389 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens defensin beta 107A (DEFB107A), mRNA.
ACCESSION   NM_001037668
VERSION     NM_001037668.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 389)
  AUTHORS   Jones EA, Kananurak A, Bevins CL, Hollox EJ and Bakaletz LO.
  TITLE     Copy number variation of the beta defensin gene cluster on
            chromosome 8p influences the bacterial microbiota within the
            nasopharynx of otitis-prone children
  JOURNAL   PLoS One 9 (5), e98269 (2014)
   PUBMED   24867293
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 389)
  AUTHORS   Taudien S, Huse K, Groth M and Platzer M.
  TITLE     Narrowing down the distal border of the copy number variable
            beta-defensin gene cluster on human 8p23
  JOURNAL   BMC Res Notes 7, 93 (2014)
   PUBMED   24552181
  REMARK    GeneRIF: Data indicate the copy number variation (CNV) of
            beta-defensin gene cluster for six indels between ~1 kb distal of
            DEFB108P and 10 kb proximal of DEFB107. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 389)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
  REMARK    GeneRIF: This protein is thought to have antimicrobial activity.
REFERENCE   4  (bases 1 to 389)
  AUTHORS   Taudien S, Galgoczy P, Huse K, Reichwald K, Schilhabel M, Szafranski
            K, Shimizu A, Asakawa S, Frankish A, Loncarevic IF, Shimizu N,
            Siddiqui R and Platzer M.
  TITLE     Polymorphic segmental duplications at 8p23.1 challenge the
            determination of individual defensin gene repertoires and the
            assembly of a contiguous human reference sequence
  JOURNAL   BMC Genomics 5 (1), 92 (2004)
   PUBMED   15588320
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 389)
  AUTHORS   Boniotto M, Ventura M, Eskdale J, Crovella S and Gallagher G.
  TITLE     Evidence for duplication of the human defensin gene DEFB4 in
            chromosomal region 8p22-23 and implications for the analysis of SNP
            allele distribution
  JOURNAL   Genet Test 8 (3), 325-327 (2004)
   PUBMED   15727258
REFERENCE   6  (bases 1 to 389)
  AUTHORS   Hollox EJ, Armour JA and Barber JC.
  TITLE     Extensive normal copy number variation of a beta-defensin
            antimicrobial-gene cluster
  JOURNAL   Am J Hum Genet 73 (3), 591-600 (2003)
   PUBMED   12916016
REFERENCE   7  (bases 1 to 389)
  AUTHORS   Semple CA, Rolfe M and Dorin JR.
  TITLE     Duplication and selection in the evolution of primate beta-defensin
            genes
  JOURNAL   Genome Biol 4 (5), R31 (2003)
   PUBMED   12734011
REFERENCE   8  (bases 1 to 389)
  AUTHORS   Yamaguchi Y, Nagase T, Makita R, Fukuhara S, Tomita T, Tominaga T,
            Kurihara H and Ouchi Y.
  TITLE     Identification of multiple novel epididymis-specific beta-defensin
            isoforms in humans and mice
  JOURNAL   J Immunol 169 (5), 2516-2523 (2002)
   PUBMED   12193721
REFERENCE   9  (bases 1 to 389)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination        :: DQ119826.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000335021.2/ ENSP00000334681.2
            Protein has antimicrobial activity :: PMID: 16033865
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DQ119826.1.
            Summary: Defensins form a family of antimicrobial and cytotoxic
            peptides made by neutrophils. Defensins are short, processed
            peptide molecules that are classified by structure into three
            groups: alpha-defensins, beta-defensins and theta-defensins. All
            beta-defensin genes are densely clustered in four to five syntenic
            chromosomal regions. Chromosome 8p23 contains at least two copies
            of the duplicated beta-defensin cluster. This duplication results
            in two identical copies of defensin, beta 107, DEFB107A and
            DEFB107B, in tail-to-tail orientation. This gene, DEFB107A,
            represents the more centromeric copy. [provided by RefSeq, Oct
            2014].
FEATURES             Location/Qualifiers
     source          1..389
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..389
                     /gene="DEFB107A"
                     /gene_synonym="BD-7; DEFB-7; DEFB107"
                     /note="defensin beta 107A"
                     /db_xref="GeneID:245910"
                     /db_xref="HGNC:HGNC:18086"
     CDS             89..301
                     /gene="DEFB107A"
                     /gene_synonym="BD-7; DEFB-7; DEFB107"
                     /note="defensin, beta 7; beta-defensin 107; beta-defensin
                     7"
                     /codon_start=1
                     /product="beta-defensin 107 precursor"
                     /protein_id="NP_001032757.2"
                     /db_xref="CCDS:CCDS43699.1"
                     /db_xref="GeneID:245910"
                     /db_xref="HGNC:HGNC:18086"
                     /translation="MPGAMKIFVFILAALILLAQIFQARTAIHRALISKRMEGHCEAEC
                     LTFEVKIGGCRAELAPFCCKNRKKH"
     sig_peptide     89..166
                     /gene="DEFB107A"
                     /gene_synonym="BD-7; DEFB-7; DEFB107"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     167..298
                     /gene="DEFB107A"
                     /gene_synonym="BD-7; DEFB-7; DEFB107"
                     /product="beta-defensin 107"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     16033865]"
ORIGIN
        1 tcagggcagt agaacatatt ttaatcaatg ccccttgata aaagagcttg attccagcta
       61 ctgcacttcc ttcatcagct ctccactgat gcctggagcc atgaaaatat ttgtctttat
      121 tttggctgct ctcattcttc ttgctcaaat tttccaagcc aggacagcaa ttcatagagc
      181 actaattagt aagagaatgg aaggtcactg tgaagccgaa tgtcttacct ttgaagtaaa
      241 gattgggggc tgtagagctg aattagcacc attttgctgc aaaaacagaa agaaacatta
      301 aaaactaagc accagctgca agaaacaaag aggtgaagat tctctggctg cgatatcagt
      361 gggataaatc tctctggacc atctctctt
//
LOCUS       NM_001037729             249 bp    mRNA    linear   PRI 03-FEB-2022
DEFINITION  Homo sapiens defensin beta 113 (DEFB113), mRNA.
ACCESSION   NM_001037729
VERSION     NM_001037729.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 249)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol. Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
  REMARK    GeneRIF: The encoded protein is thought to display antimicrobial
            activity.
REFERENCE   2  (bases 1 to 249)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination        :: DQ012017.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000398718.1/ ENSP00000381703.1
            Protein has antimicrobial activity :: PMID: 16033865
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DQ012017.1.
            Summary: Defensins form a family of antimicrobial and cytotoxic
            peptides made by neutrophils. Defensins are short, processed
            peptide molecules that are classified by structure into three
            groups: alpha-defensins, beta-defensins and theta-defensins. All
            beta-defensin genes are densely clustered in four to five syntenic
            chromosomal regions. [provided by RefSeq, Oct 2014].
FEATURES             Location/Qualifiers
     source          1..249
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.3"
     gene            1..249
                     /gene="DEFB113"
                     /gene_synonym="DEFB-13"
                     /note="defensin beta 113"
                     /db_xref="GeneID:245927"
                     /db_xref="HGNC:HGNC:18094"
     CDS             1..249
                     /gene="DEFB113"
                     /gene_synonym="DEFB-13"
                     /note="defensin, beta 13; beta-defensin 113; beta-defensin
                     13"
                     /codon_start=1
                     /product="beta-defensin 113 precursor"
                     /protein_id="NP_001032818.1"
                     /db_xref="CCDS:CCDS43472.1"
                     /db_xref="GeneID:245927"
                     /db_xref="HGNC:HGNC:18094"
                     /translation="MKILCIFLTFVFTVSCGPSVPQKKTREVAERKRECQLVRGACKPE
                     CNSWEYVYYYCNVNPCCAVWEYQKPIINKITSKLHQK"
     sig_peptide     1..48
                     /gene="DEFB113"
                     /gene_synonym="DEFB-13"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     49..246
                     /gene="DEFB113"
                     /gene_synonym="DEFB-13"
                     /product="beta-defensin 113"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     16033865]"
ORIGIN
        1 atgaagatac tttgtatttt tctgaccttt gtcttcactg tgtcttgtgg tccatcagtt
       61 ccacagaaaa aaacaagaga agttgcagag agaaaaagag aatgtcagct tgttcgtggt
      121 gcttgcaagc cggaatgcaa cagctgggaa tatgtatatt attactgcaa tgttaacccc
      181 tgctgtgcgg tatgggaata ccaaaagcca atcattaaca aaatcactag taaactccat
      241 caaaaataa
//
LOCUS       NM_001037730             267 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens defensin beta 115 (DEFB115), mRNA.
ACCESSION   NM_001037730
VERSION     NM_001037730.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 267)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 267)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
  REMARK    GeneRIF: The encoded protein is thought to display antimicrobial
            activity.
REFERENCE   3  (bases 1 to 267)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination        :: DQ012019.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000400552.1/ ENSP00000383398.1
            Protein has antimicrobial activity :: PMID: 16033865
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DQ012019.1.
            Summary: Defensins form a family of antimicrobial and cytotoxic
            peptides made by neutrophils. Defensins are short, processed
            peptide molecules that are classified by structure into three
            groups: alpha-defensins, beta-defensins and theta-defensins. All
            beta-defensin genes are densely clustered in four to five syntenic
            chromosomal regions. [provided by RefSeq, Oct 2014].
FEATURES             Location/Qualifiers
     source          1..267
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     gene            1..267
                     /gene="DEFB115"
                     /gene_synonym="DEFB-15"
                     /note="defensin beta 115"
                     /db_xref="GeneID:245929"
                     /db_xref="HGNC:HGNC:18096"
     CDS             1..267
                     /gene="DEFB115"
                     /gene_synonym="DEFB-15"
                     /note="defensin, beta 15; beta-defensin 115; beta-defensin
                     15"
                     /codon_start=1
                     /product="beta-defensin 115 precursor"
                     /protein_id="NP_001032819.1"
                     /db_xref="CCDS:CCDS42859.1"
                     /db_xref="GeneID:245929"
                     /db_xref="HGNC:HGNC:18096"
                     /translation="MLPDHFSPLSGDIKLSVLALVVLVVLAQTAPDGWIRRCYYGTGRC
                     RKSCKEIERKKEKCGEKHICCVPKEKDKLSHIHDQKETSELYI"
     sig_peptide     1..81
                     /gene="DEFB115"
                     /gene_synonym="DEFB-15"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     82..264
                     /gene="DEFB115"
                     /gene_synonym="DEFB-15"
                     /product="beta-defensin 115"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     16033865]"
ORIGIN
        1 atgctgccag atcatttctc acccctctca ggagacatta aactctctgt cctggcctta
       61 gttgtccttg tggtcctggc tcagactgcc ccagatggat ggatcagaag gtgctattat
      121 ggaactggca gatgcaggaa atcatgcaaa gaaattgaga ggaagaaaga aaaatgtggg
      181 gaaaaacata tttgctgtgt ccctaaagaa aaggataaac tatcacacat tcacgaccaa
      241 aaagagacaa gtgagctata tatctag
//
LOCUS       NM_001037731             309 bp    mRNA    linear   PRI 20-DEC-2022
DEFINITION  Homo sapiens defensin beta 116 (DEFB116), mRNA.
ACCESSION   NM_001037731
VERSION     NM_001037731.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 309)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
  REMARK    GeneRIF: The encoded protein is thought to display antimicrobial
            activity.
REFERENCE   2  (bases 1 to 309)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
REFERENCE   3  (bases 1 to 309)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN,
            Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden
            JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM,
            Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor
            S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh
            VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry
            D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R,
            Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay
            H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce
            CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore
            N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC,
            Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL,
            Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM,
            Bentley DR, Beck S and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     ##Evidence-Data-START##
            Transcript exon combination        :: DQ012020.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000400549.1/ ENSP00000383396.1
            Protein has antimicrobial activity :: PMID: 16033865
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DQ012020.1.
            Summary: Defensins form a family of antimicrobial and cytotoxic
            peptides made by neutrophils. Defensins are short, processed
            peptide molecules that are classified by structure into three
            groups: alpha-defensins, beta-defensins and theta-defensins. All
            beta-defensin genes are densely clustered in four to five syntenic
            chromosomal regions. [provided by RefSeq, Oct 2014].
FEATURES             Location/Qualifiers
     source          1..309
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     gene            1..309
                     /gene="DEFB116"
                     /gene_synonym="DEFB-16"
                     /note="defensin beta 116"
                     /db_xref="GeneID:245930"
                     /db_xref="HGNC:HGNC:18097"
     CDS             1..309
                     /gene="DEFB116"
                     /gene_synonym="DEFB-16"
                     /note="defensin, beta 16; beta-defensin 116; beta-defensin
                     16"
                     /codon_start=1
                     /product="beta-defensin 116 precursor"
                     /protein_id="NP_001032820.1"
                     /db_xref="CCDS:CCDS42860.1"
                     /db_xref="GeneID:245930"
                     /db_xref="HGNC:HGNC:18097"
                     /translation="MSVMKPCLMTIAILMILAQKTPGGLFRSHNGKSREPWNPCELYQG
                     MCRNACREYEIQYLTCPNDQKCCLKLSVKITSSKNVKEDYDSNSNLSVTNSSSYSHI"
     sig_peptide     1..69
                     /gene="DEFB116"
                     /gene_synonym="DEFB-16"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     70..306
                     /gene="DEFB116"
                     /gene_synonym="DEFB-16"
                     /product="beta-defensin 116"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     16033865]"
     misc_feature    247..306
                     /gene="DEFB116"
                     /gene_synonym="DEFB-16"
                     /note="propagated from UniProtKB/Swiss-Prot (Q30KQ4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 atgtcagtca tgaagccctg tttaatgacc attgccatcc ttatgatcct ggctcaaaag
       61 actccaggtg gcctgttcag atcccacaat ggcaagagcc gagagccttg gaatccatgt
      121 gagctttacc aaggcatgtg cagaaacgcc tgcagagaat atgaaatcca atacttaacc
      181 tgcccaaatg atcaaaagtg ctgcctgaaa ctttctgtga aaataaccag ttctaaaaat
      241 gtgaaggagg attacgactc taactccaac ttgtcagtta caaacagttc aagctactct
      301 cacatttga
//
LOCUS       NM_001037732             403 bp    mRNA    linear   PRI 25-JUL-2020
DEFINITION  Homo sapiens defensin beta 128 (DEFB128), mRNA.
ACCESSION   NM_001037732
VERSION     NM_001037732.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 403)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 403)
  AUTHORS   Ghatge M, Sharma A, Maity S, Kakkar VV and Vangala RK.
  TITLE     Danger-recognizing proteins, beta-defensin-128 and histatin-3, as
            potential biomarkers of recurrent coronary events
  JOURNAL   Int. J. Mol. Med. 40 (2), 531-538 (2017)
   PUBMED   28627688
  REMARK    GeneRIF: This aim of this study was to identify novel biomarkers
            using comparative global proteome analysis to improve the risk
            assessment for recurrent coronary events. Beta -defensin-128 and
            histatin-3 may be potential biomarkers whch may be used to improve
            risk the stratification for recurrent coronary events.
REFERENCE   3  (bases 1 to 403)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS ONE 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   4  (bases 1 to 403)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol. Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
REFERENCE   5  (bases 1 to 403)
  AUTHORS   Schulz A, Kluver E, Schulz-Maronde S and Adermann K.
  TITLE     Engineering disulfide bonds of the novel human beta-defensins hBD-27
            and hBD-28: differences in disulfide formation and biological
            activity among human beta-defensins
  JOURNAL   Biopolymers 80 (1), 34-49 (2005)
   PUBMED   15625724
REFERENCE   6  (bases 1 to 403)
  AUTHORS   Rodriguez-Jimenez FJ, Krause A, Schulz S, Forssmann WG,
            Conejo-Garcia JR, Schreeb R and Motzkus D.
  TITLE     Distribution of new human beta-defensin genes clustered on
            chromosome 20 in functionally different segments of epididymis
  JOURNAL   Genomics 81 (2), 175-183 (2003)
   PUBMED   12620395
  REMARK    GeneRIF: The protein encoded by this gene is thought to display
            antimicrobial activity.
REFERENCE   7  (bases 1 to 403)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC140936.1, AF525930.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000334391.5/ ENSP00000335382.4
            Protein has antimicrobial activity :: PMID: 12620395
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL360078.16, BC140936.1 and
            AF525930.1.
            On May 17, 2019 this sequence version replaced NM_001037732.2.
            Summary: Defensins are cysteine-rich cationic polypeptides that are
            important in the immunologic response to invading microorganisms.
            The antimicrobial protein encoded by this gene is secreted and is a
            member of the beta defensin protein family. Beta defensin genes are
            found in several clusters throughout the genome, with this gene
            mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014].
FEATURES             Location/Qualifiers
     source          1..403
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..403
                     /gene="DEFB128"
                     /gene_synonym="DEFB-28; DEFB28; hBD-28"
                     /note="defensin beta 128"
                     /db_xref="GeneID:245939"
                     /db_xref="HGNC:HGNC:18106"
     misc_feature    20..22
                     /gene="DEFB128"
                     /gene_synonym="DEFB-28; DEFB28; hBD-28"
                     /note="upstream in-frame stop codon"
     CDS             89..370
                     /gene="DEFB128"
                     /gene_synonym="DEFB-28; DEFB28; hBD-28"
                     /note="defensin, beta 28; beta-defensin 28; beta-defensin
                     128"
                     /codon_start=1
                     /product="beta-defensin 128 precursor"
                     /protein_id="NP_001032821.1"
                     /db_xref="CCDS:CCDS33430.1"
                     /db_xref="GeneID:245939"
                     /db_xref="HGNC:HGNC:18106"
                     /translation="MKLFLVLIILLFEVLTDGARLKKCFNKVTGYCRKKCKVGERYEIG
                     CLSGKLCCANDEEEKKHVSFKKPHQHSGEKLSVLQDYIILPTITIFTV"
     sig_peptide     89..142
                     /gene="DEFB128"
                     /gene_synonym="DEFB-28; DEFB28; hBD-28"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     143..367
                     /gene="DEFB128"
                     /gene_synonym="DEFB-28; DEFB28; hBD-28"
                     /product="beta-defensin 128"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     12620395]"
ORIGIN
        1 caaaactctg gatcatcttt aaagacctgt ggcacacaga ccactggaca aagttctgct
       61 gcctctttct cttgggaagt ctgtaaatat gaagctgttt ctggttctca ttattctgct
      121 gtttgaggta ctcacagacg gggcaagact caaaaaatgc ttcaataaag taacaggcta
      181 ttgcaggaag aaatgcaagg taggagaaag atatgaaata ggatgtctaa gtgggaaatt
      241 atgttgtgct aatgatgaag aagagaaaaa acatgtgtca tttaagaagc cacatcaaca
      301 ttctggtgag aagctgagtg tgctgcagga ttacatcatc ttacccacca tcaccatttt
      361 cacagtctaa tcctaaatct agcccttgtc tcgctggtct cca
//
LOCUS       NM_001037763            4297 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens collagen type XXVIII alpha 1 chain (COL28A1), mRNA.
ACCESSION   NM_001037763
VERSION     NM_001037763.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4297)
  AUTHORS   Li L, Ye H, Chen Q and Wei L.
  TITLE     COL28 promotes proliferation, migration, and EMT of renal tubular
            epithelial cells
  JOURNAL   Ren Fail 45 (1), 2187236 (2023)
   PUBMED   36883360
  REMARK    GeneRIF: COL28 promotes proliferation, migration, and EMT of renal
            tubular epithelial cells.
REFERENCE   2  (bases 1 to 4297)
  AUTHORS   Naba A, Pearce OMT, Del Rosario A, Ma D, Ding H, Rajeeve V, Cutillas
            PR, Balkwill FR and Hynes RO.
  TITLE     Characterization of the Extracellular Matrix of Normal and Diseased
            Tissues Using Proteomics
  JOURNAL   J Proteome Res 16 (8), 3083-3091 (2017)
   PUBMED   28675934
REFERENCE   3  (bases 1 to 4297)
  AUTHORS   Barallobre-Barreiro J, Gupta SK, Zoccarato A, Kitazume-Taneike R,
            Fava M, Yin X, Werner T, Hirt MN, Zampetaki A, Viviano A, Chong M,
            Bern M, Kourliouros A, Domenech N, Willeit P, Shah AM, Jahangiri M,
            Schaefer L, Fischer JW, Iozzo RV, Viner R, Thum T, Heineke J,
            Kichler A, Otsu K and Mayr M.
  TITLE     Glycoproteomics Reveals Decorin Peptides With Anti-Myostatin
            Activity in Human Atrial Fibrillation
  JOURNAL   Circulation 134 (11), 817-832 (2016)
   PUBMED   27559042
REFERENCE   4  (bases 1 to 4297)
  AUTHORS   Naba A, Clauser KR, Whittaker CA, Carr SA, Tanabe KK and Hynes RO.
  TITLE     Extracellular matrix signatures of human primary metastatic colon
            cancers and their metastases to liver
  JOURNAL   BMC Cancer 14, 518 (2014)
   PUBMED   25037231
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4297)
  AUTHORS   Kennedy RB, Ovsyannikova IG, Pankratz VS, Haralambieva IH, Vierkant
            RA and Poland GA.
  TITLE     Genome-wide analysis of polymorphisms associated with cytokine
            responses in smallpox vaccine recipients
  JOURNAL   Hum Genet 131 (9), 1403-1421 (2012)
   PUBMED   22610502
REFERENCE   6  (bases 1 to 4297)
  AUTHORS   Wang KS, Liu XF and Aragam N.
  TITLE     A genome-wide meta-analysis identifies novel loci associated with
            schizophrenia and bipolar disorder
  JOURNAL   Schizophr Res 124 (1-3), 192-199 (2010)
   PUBMED   20889312
REFERENCE   7  (bases 1 to 4297)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction Assessment
            with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   8  (bases 1 to 4297)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 4297)
  AUTHORS   Veit G, Kobbe B, Keene DR, Paulsson M, Koch M and Wagener R.
  TITLE     Collagen XXVIII, a novel von Willebrand factor A domain-containing
            protein with many imperfections in the collagenous domain
  JOURNAL   J Biol Chem 281 (6), 3494-3504 (2006)
   PUBMED   16330543
  REMARK    GeneRIF: Collagen XXVIII is a novel von Willebrand factor A
            domain-containing protein with many imperfections in the collagenous
            domain
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AJ890451.1, BC136892.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000399429.8/ ENSP00000382356.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004982.1, AJ890451.1 and AC006356.3.
            On May 17, 2019 this sequence version replaced NM_001037763.2.
            Summary: COL28A1 belongs to a class of collagens containing von
            Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et
            al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010].
FEATURES             Location/Qualifiers
     source          1..4297
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.3"
     gene            1..4297
                     /gene="COL28A1"
                     /gene_synonym="COL28"
                     /note="collagen type XXVIII alpha 1 chain"
                     /db_xref="GeneID:340267"
                     /db_xref="HGNC:HGNC:22442"
                     /db_xref="MIM:609996"
     misc_feature    45..47
                     /gene="COL28A1"
                     /gene_synonym="COL28"
                     /note="upstream in-frame stop codon"
     CDS             162..3539
                     /gene="COL28A1"
                     /gene_synonym="COL28"
                     /note="collagen alpha-1(XXVIII) chain; collagen, type
                     XXVIII, alpha 1"
                     /codon_start=1
                     /product="collagen alpha-1(XXVIII) chain precursor"
                     /protein_id="NP_001032852.2"
                     /db_xref="CCDS:CCDS43553.1"
                     /db_xref="GeneID:340267"
                     /db_xref="HGNC:HGNC:22442"
                     /db_xref="MIM:609996"
                     /translation="MWNRYFVFYLLLLSAFTSQTVSGQRKKGPKSNLLARKSDVQGSIC
                     FIDIVFIVDSSESSKIALFDKQKDFVDSLSDKIFQLTPGRSLEYDIKLAALQFSSSVQI
                     DPPFSSWKDLQTFKQKVKSMNLIGQGTFSYYAISNATRLLKREGRKDGVKVVLLMTDGI
                     DHPKNPDVQSISEDARISGISFITIALSTVVNEAKLRLISGDSSSEPTLLLSDPTLVDK
                     IQDRLDILFEKKCERKICECEKGDPGDPGPPGTHGNPGIKGERGPKGNPGNAQKGEAGE
                     RGPGGIPGYKGDKGERGECGKPGIKGDKGSPGPYGPKGPRGIQGITGPPGDPGPKGFQG
                     NKGEPGPPGPYGSPGAPGIGQQGIKGERGQEGRPGAPGPIGVGEPGQPGPRGPEGVPGE
                     RGLPGEGFPGPKGEKGSEGPTGPQGLQGLSIKGEKGDIGPVGPQGPMGIPGIGSQGEQG
                     IQGPIGPPGPQGPAGQGLPGSKGEVGQMGPTGPRGPVGIGVQGPKGEPGSIGLPGQPGV
                     PGEDGAAGKKGEAGLPGARGPEGPPGKGQPGPKGDEGKKGSKGNQGQRGLPGPEGPKGE
                     PGIMGPFGMPGTSIPGPPGPKGDRGGPGIPGFKGEPGLSIRGPKGVQGPRGPVGAPGLK
                     GDGYPGVPGPRGLPGPPGPMGLRGVGDTGAKGEPGVRGPPGPSGPRGVGTQGPKGDTGQ
                     KGLPGPPGPPGYGSQGIKGEQGPQGFPGPKGTMGHGLPGQKGEHGERGDVGKKGDKGEI
                     GEPGSPGKQGLQGPKGDLGLTKEEIIKLITEICGCGPKCKETPLELVFVIDSSESVGPE
                     NFQIIKNFVKTMADRVALDLATARIGIINYSHKVEKVANLKQFSSKDDFKLAVDNMQYL
                     GEGTYTATALQAANDMFEDARPGVKKVALVITDGQTDSRDKEKLTEVVKNASDTNVEIF
                     VIGVVKKNDPNFEIFHKEMNLIATDPEHVYQFDDFFTLQDTLKQKLFQKICEDFDSYLV
                     QIFGSSSPQPGFGMSGEELSESTPEPQKEISESLSVTRDQDEDDKAPEPTWADDLPATT
                     SSEATTTPRPLLSTPVDGAEDPRCLEALKPGNCGEYVVRWYYDKQVNSCARFWFSGCNG
                     SGNRFNSEKECQETCIQG"
     sig_peptide     162..230
                     /gene="COL28A1"
                     /gene_synonym="COL28"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    885..2468
                     /gene="COL28A1"
                     /gene_synonym="COL28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2UY09.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3156..3359
                     /gene="COL28A1"
                     /gene_synonym="COL28"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2UY09.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4202..4207
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL28A1"
                     /gene_synonym="COL28"
                     /note="hexamer: AACAAA"
     polyA_site      4236
                     /gene="COL28A1"
                     /gene_synonym="COL28"
                     /note="major polyA site"
ORIGIN
        1 aaagacactt ttatttccca cagaacagaa caatatcaaa tagctaactt cacccccaac
       61 cacagtcctt gctgttggca tttactcaac tagtctttaa ttcctgtttg acaaacttta
      121 taaggtgcta caagacagat gatttttcac catctaccat aatgtggaac agatattttg
      181 tcttctatct cctgcttttg tcagcgttta cgagtcaaac agtatccgga caaagaaaga
      241 aaggaccaaa atcaaatttg cttgcaagga aaagtgatgt ccagggctcc atttgtttca
      301 tagatattgt cttcatcgtg gacagctctg aaagttctaa aattgccctc tttgataaac
      361 agaaagattt tgtggatagc ttgagtgaca agattttcca attgactcct ggtcgctcct
      421 tggaatatga catcaaactg gcagcccttc agtttagcag ctctgtccaa attgatccac
      481 ctttttcttc ctggaaggac ctgcagacat ttaagcagaa ggtcaagtct atgaatttaa
      541 tagggcaagg taccttctct tattatgcca tttccaatgc cactaggcta cttaagagag
      601 aagggcgtaa ggatggtgtg aaagtggttt tgctgatgac tgatggcatc gaccatccaa
      661 agaatccaga tgttcaaagt atttctgaag atgccagaat ttcaggaata tcatttatca
      721 ccattgcact ttctacggta gtcaatgaag ccaaacttcg tttgatttct ggggattcat
      781 ccagtgaacc cactttactg ttgagtgatc caacccttgt agataaaatt caagatcgtc
      841 tggatatctt atttgaaaag aagtgtgaac gcaagatttg tgaatgtgag aagggagatc
      901 caggtgatcc agggcctcct ggtacacatg gaaatccagg tatcaaaggt gagcgaggac
      961 caaaaggaaa cccgggcaac gctcaaaaag gagaagctgg agaaagaggt ccagggggaa
     1021 ttcctgggta caagggtgac aagggtgaac gtggggaatg tggtaaacca gggataaaag
     1081 gtgacaaggg atccccaggg ccatatggac caaagggacc cagaggaatt cagggaatta
     1141 ctggacctcc aggagaccca ggcccaaagg ggtttcaagg caataagggt gagccaggtc
     1201 ctcctggtcc ttatggttct ccaggagctc ctggaattgg acagcaaggt attaagggag
     1261 aaagaggcca agaaggaaga ccgggagctc caggacccat tggagttggt gagcctggac
     1321 agccaggtcc ccgtggtcct gagggagtac caggagagag gggcttaccc ggagaaggat
     1381 ttccaggacc aaagggtgaa aaaggttctg aaggaccaac tggcccacag ggattacaag
     1441 gcctgtcaat caaaggggag aagggggata taggacctgt gggaccccaa ggaccaatgg
     1501 gtatccctgg aatcgggagt caaggggaac agggaatcca aggtcctatt ggtccacctg
     1561 gtccacaagg gcccgcagga cagggcttac ctggttccaa gggagaagta ggccaaatgg
     1621 gacctacagg ccctcgagga ccagtgggaa ttggagtaca aggtccaaag ggagagccag
     1681 gctcaatagg gctcccagga caaccaggag taccaggaga agatggagct gcagggaaga
     1741 agggagaagc ggggcttccg ggagcaagag gcccagaagg accacctgga aaaggacagc
     1801 ctggccccaa gggtgacgaa ggcaagaaag ggagcaaagg aaatcaagga cagaggggac
     1861 ttccagggcc cgaaggacca aagggtgaac cgggcattat gggccctttt ggaatgcctg
     1921 gaacatcaat tcctggacca cctgggccaa agggagatag aggaggacct gggatacctg
     1981 gatttaaggg agaacctgga ctttctattc gaggaccaaa gggtgtccaa ggccctcggg
     2041 gaccagtggg tgctccagga ctcaaaggtg atggctatcc tggtgtgcct ggacctcgtg
     2101 gattaccagg accccctggg ccgatgggtt tacgtggagt gggagacact ggagcaaagg
     2161 gagagcctgg ggtcagaggc cctccaggtc cttctgggcc tcggggcgta ggaacccaag
     2221 ggccaaaggg tgatactggg cagaaaggct tgcctggccc tcctggcccc cctggctatg
     2281 gatcacaggg aattaaaggg gaacaaggac cacaaggctt cccaggccca aagggcacaa
     2341 tgggccatgg cctcccaggc cagaagggag agcacggaga acggggcgat gtgggaaaga
     2401 aaggtgataa aggagaaatt ggagagcctg gatctccagg aaaacagggt ttacaaggac
     2461 ccaaaggaga cctaggactt acaaaagaag aaattatcaa acttattaca gaaatatgtg
     2521 gttgtgggcc caaatgcaaa gagactccac tagagctggt gtttgtgatc gacagctcag
     2581 aaagcgtggg gccagagaac tttcagatca ttaaaaattt tgtgaagact atggctgacc
     2641 gggttgctct ggaccttgcc acggcccgca taggcataat caactatagc cataaggtgg
     2701 agaaggtggc taatttgaag cagttctcca gcaaggatga cttcaagttg gctgtggaca
     2761 acatgcagta tctgggggaa ggcacataca cagccactgc tctgcaagca gccaacgaca
     2821 tgtttgaaga tgcaaggcca ggtgtaaaaa aagtggcctt ggtcatcact gatggacaga
     2881 cagattctcg tgataaagag aaactgacag aggtggtgaa gaatgccagt gacaccaatg
     2941 tggagatatt tgtgataggg gtggtgaaga aaaatgatcc caactttgaa atattccaca
     3001 aagaaatgaa tctaattgct actgacccag agcatgttta ccagtttgat gatttcttta
     3061 ccctgcaaga caccctgaag caaaaattgt ttcaaaaaat ttgtgaggat tttgattcct
     3121 atctcgttca aatttttggt tcatcgtcac ctcaacctgg atttgggatg tcaggggaag
     3181 aactcagtga atctactcca gagcctcaaa aagaaatttc tgagtcattg agtgtcacca
     3241 gagaccagga tgaagatgat aaggctccag agccaacgtg ggctgatgat ctgcctgcca
     3301 ctacctcatc tgaggccacc accaccccca ggccactgct cagcacccct gtggatgggg
     3361 cagaggatcc tagatgtttg gaagccttga agcctggaaa ctgtggtgaa tatgtggttc
     3421 gatggtatta tgacaaacag gtcaactctt gtgcccgatt ttggttcagt ggctgtaatg
     3481 gctcaggaaa tagattcaac agtgaaaagg aatgtcaaga aacctgcatt caaggatgag
     3541 caagtaaatt ggcctgtctc tatcaaaagc atagaactcc ctaatttcca catattcacc
     3601 caatacaaat acagcactat atttgagtgt atactgagta tttacaactt atacatgtaa
     3661 ttgaattctc actacagccc taggatgtac atattattaa ccacttatat aggtaagaaa
     3721 gctgaggctc tgagaagttt agtaacttgt caactgtcac ccaactaaaa agtttcagag
     3781 ctgaggattt agacttagag ctgtgtaact tcaatacaca gactctatct acttcacaac
     3841 ctgcaatgtg attctgattc ctttaattcc tgttgtatgt actatgtcag ctcaaacccc
     3901 tacccctgtc cctgcccata cctccaccca ctcacctccc taacctcctt atgtccctcg
     3961 cagtagcaag atgtaggtga taggaaggac ttcggtgtga gaattagaaa tgatgtaaat
     4021 gtttacgcag gagtgctggg ataggagtcg ggatggtgag ggtagttaga tttttgcctc
     4081 acttgccctg aaagtggtaa tagggagaaa ccaatctgaa ttacaattac ttaaatgtat
     4141 cacagactgt cactttgtat tcctccaaca tgtttggtaa caagtgttta atgtatgtta
     4201 aaacaaagaa ggtttttata cccttccatt aaaatatgtc agtgggccct tccattttat
     4261 ggagtggaat gggaaggccc ttgacagcca ggaacca
//
LOCUS       NM_001037804             240 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens defensin beta 130A (DEFB130A), mRNA.
ACCESSION   NM_001037804
VERSION     NM_001037804.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 240)
  AUTHORS   Terkawi MA, Takano R, Furukawa A, Murakoshi F and Kato K.
  TITLE     Involvement of beta-defensin 130 (DEFB130) in the macrophage
            microbicidal mechanisms for killing Plasmodium falciparum
  JOURNAL   Sci Rep 7, 41772 (2017)
   PUBMED   28181499
  REMARK    GeneRIF: these results suggest that DEFB130 might be one of the
            macrophage effector molecules for eliminating malarial parasites.
            Our data broaden our knowledge of the immunological response of
            macrophages to iRBCs and shed light on a new target for therapeutic
            intervention. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 240)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
  REMARK    GeneRIF: The protein encoded by this gene is thought to display
            antimicrobial activity.
REFERENCE   3  (bases 1 to 240)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination        :: DQ012022.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000400079.1/ ENSP00000382951.1
            Protein has antimicrobial activity :: PMID: 16033865
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DQ012022.1.
            Summary: Defensins are cysteine-rich cationic polypeptides that are
            important in the immunologic response to invading microorganisms.
            The antimicrobial protein encoded by this gene is secreted and is a
            member of the beta defensin protein family. Beta defensin genes are
            found in several clusters throughout the genome, with this gene
            mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014].
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..240
                     /gene="DEFB130A"
                     /gene_synonym="DEFB-30; DEFB130; DEFB130L; DEFB30"
                     /note="defensin beta 130A"
                     /db_xref="GeneID:245940"
                     /db_xref="HGNC:HGNC:18107"
     CDS             1..240
                     /gene="DEFB130A"
                     /gene_synonym="DEFB-30; DEFB130; DEFB130L; DEFB30"
                     /note="defensin, beta 30; beta-defensin 130; beta-defensin
                     30; defensin beta 130; beta-defensin 130A"
                     /codon_start=1
                     /product="beta-defensin 130A precursor"
                     /protein_id="NP_001032893.1"
                     /db_xref="CCDS:CCDS43714.1"
                     /db_xref="GeneID:245940"
                     /db_xref="HGNC:HGNC:18107"
                     /translation="MKLHSLISVLLLFVTLIPKGKTGVIPGQKQCIALKGVCRDKLCST
                     LDDTIGICNEGKKCCRRWWILEPYPTPVPKGKSP"
     sig_peptide     1..66
                     /gene="DEFB130A"
                     /gene_synonym="DEFB-30; DEFB130; DEFB130L; DEFB30"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     67..237
                     /gene="DEFB130A"
                     /gene_synonym="DEFB-30; DEFB130; DEFB130L; DEFB30"
                     /product="beta-defensin 130A"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     16033865]"
ORIGIN
        1 atgaaactcc attcccttat ttctgttctc ctcctctttg tgactttaat accaaaagga
       61 aagactggcg ttattccagg acaaaaacag tgtattgctt tgaaaggggt gtgcagagac
      121 aaactatgca gcacactaga tgataccatt ggtatatgta atgaaggaaa aaaatgttgt
      181 agaaggtggt ggatacttga gccctatcca actccggttc ccaaaggaaa atctccttag
//
LOCUS       NM_001037806            4882 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens NCK associated protein 5 like (NCKAP5L), transcript
            variant 2, mRNA.
ACCESSION   NM_001037806
VERSION     NM_001037806.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4882)
  AUTHORS   Shintomi M, Shiratori M, Negishi L and Terada Y.
  TITLE     Identification of Cep169-interacting proteins and the in vivo
            modification sites of Cep169 via proteomic analysis
  JOURNAL   Biochem Biophys Res Commun 495 (3), 2275-2281 (2018)
   PUBMED   29269292
  REMARK    GeneRIF: Our findings suggest that Cep169 regulates cell growth by
            interacting with multiple proteins.
REFERENCE   2  (bases 1 to 4882)
  AUTHORS   Mori Y, Inoue Y, Taniyama Y, Tanaka S and Terada Y.
  TITLE     Phosphorylation of the centrosomal protein, Cep169, by Cdk1 promotes
            its dissociation from centrosomes in mitosis
  JOURNAL   Biochem Biophys Res Commun 468 (4), 642-646 (2015)
   PUBMED   26549230
  REMARK    GeneRIF: These data suggest that the dissociation of Cep169 from
            centrosomes is controlled by Cdk1/Cyclin B during mitosis, and that
            Cep169 might regulate MT dynamics of mitotic spindle.
REFERENCE   3  (bases 1 to 4882)
  AUTHORS   Mori Y, Inoue Y, Tanaka S, Doda S, Yamanaka S, Fukuchi H and Terada
            Y.
  TITLE     Cep169, a Novel Microtubule Plus-End-Tracking Centrosomal Protein,
            Binds to CDK5RAP2 and Regulates Microtubule Stability
  JOURNAL   PLoS One 10 (10), e0140968 (2015)
   PUBMED   26485573
  REMARK    GeneRIF: These results show that Cep169 targets microtubule tips and
            regulates stability of microtubules with CDK5RAP2. Publication
            Status: Online-Only
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335999.7/ ENSP00000337998.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CN359946.1, CN359941.1, AC131157.4, BC033253.1, BX327000.2 and
            BU617503.1.
            On Nov 23, 2018 this sequence version replaced NM_001037806.3.
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by same species and orthologous transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4882
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..4882
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="NCK associated protein 5 like"
                     /db_xref="GeneID:57701"
                     /db_xref="HGNC:HGNC:29321"
                     /db_xref="MIM:615104"
     CDS             191..4195
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="NCKAP5-like; centrosomal protein of 169 kDa"
                     /codon_start=1
                     /product="nck-associated protein 5-like"
                     /protein_id="NP_001032895.2"
                     /db_xref="CCDS:CCDS41781.2"
                     /db_xref="GeneID:57701"
                     /db_xref="HGNC:HGNC:29321"
                     /db_xref="MIM:615104"
                     /translation="MSEAMDQPAGGPGNPRPGEGDDGSMEPGTCQELLHRLRELEAENS
                     ALAQANENQRETYERCLDEVANHVVQALLNQKDLREECIKLKKRVFDLERQNQMLSALF
                     QQKLQLTTGSLPQIPLTPLQPPSEPPASPSLSSTEGPAAPLPLGHCAGQREVCWEQQLR
                     PGGPGPPAAPPPALDALSPFLRKKAQILEVLRALEETDPLLLCSPATPWRPPGQGPGSP
                     EPINGELCGPPQPEPSPWAPCLLLGPGNLGGLLHWERLLGGLGGEEDTGRPWGPSRGPP
                     QAQGTSSGPNCAPGSSSSSSSDEAGDPNEAPSPDTLLGALARRQLNLGQLLEDTESYLQ
                     AFLAGAAGPLNGDHPGPGQSSSPDQAPPQLSKSKGLPKSAWGGGTPEAHRPGFGATSEG
                     QGPLPFLSMFMGAGDAPLGSRPGHPHSSSQVKSKLQIGPPSPGEAQGPLLPSPARGLKF
                     LKLPPTSEKSPSPGGPQLSPQLPRNSRIPCRNSGSDGSPSPLLARRGLGGGELSPEGAQ
                     GLPTSPSPCYTTPDSTQLRPPQSALSTTLSPGPVVSPCYENILDLSRSTFRGPSPEPPP
                     SPLQVPTYPQLTLEVPQAPEVLRSPGVPPSPCLPESYPYGSPQEKSLDKAGSESPHPGR
                     RTPGNSSKKPSQGSGRRPGDPGSTPLRDRLAALGKLKTGPEGALGSEKNGVPARPGTEK
                     TRGPGKSGESAGDMVPSIHRPLEQLEAKGGIRGAVALGTNSLKQQEPGLMGDPGARVYS
                     SHSMGARVDLEPVSPRSCLTKVELAKSRLAGALCPQVPRTPAKVPTSAPSLGKPNKSPH
                     SSPTKLPSKSPTKVVPRPGAPLVTKESPKPDKGKGPPWADCGSTTAQSTPLVPGPTDPS
                     QGPEGLAPHSAIEEKVMKGIEENVLRLQGQERAPGAEVKHRNTSSIASWFGLKKSKLPA
                     LNRRTEATKNKEGAGGGSPLRREVKMEARKLEAESLNISKLMAKAEDLRRALEEEKAYL
                     SSRARPRPGGPAPGPNTGLGQVQGQLAGMYQGADTFMQQLLNRVDGKELPSKSWREPKP
                     EYGDFQPVSSDPKSPWPACGPRNGLVGPLQGCGKPPGKPSSEPGRREEMPSEDSLAEPV
                     PTSHFTACGSLTRTLDSGIGTFPPPDHGSSGTPSKNLPKTKPPRLDPPPGVPPARPPPL
                     TKVPRRAHTLEREVPGIEELLVSGRHPSMPAFPALLPAAPGHRGHETCPDDPCEDPGPT
                     PPVQLAKNWTFPNTRAAGSSSDPLMCPPRQLEGLPRTPMALPVDRKRSQEPSRPSPTPQ
                     GPPFGGSRTPSTSDMAEEGRVASGGPPGLETSESLSDSLYDSLSSCGSQG"
     misc_feature    191..607
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     Region: Mediates interaction with CDK5RAP2 and is required
                     for homodimerization and microtubule bundle formation.
                     /evidence=ECO:0000269|PubMed:26482847,
                     ECO:0000269|PubMed:26485573"
     misc_feature    191..274
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    533..628
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    818..892
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    986..1138
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1235..2323
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1508..1510
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:26549230,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     phosphorylation site"
     misc_feature    1541..1543
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:26549230,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9HCH0.4); phosphorylation site"
     misc_feature    1598..1600
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:26549230; propagated from
                     UniProtKB/Swiss-Prot (Q9HCH0.4); phosphorylation site"
     misc_feature    1619..1621
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:26549230,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     phosphorylation site"
     misc_feature    1640..1651
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     Region: (S/T)X(I/L)P motif 1.
                     /evidence=ECO:0000269|PubMed:26482847,
                     ECO:0000269|PubMed:26485573"
     misc_feature    1667..1669
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9HCH0.4); phosphorylation site"
     misc_feature    1676..1678
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9HCH0.4); phosphorylation site"
     misc_feature    1682..1684
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     phosphorylation site"
     misc_feature    1901..1903
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:26549230,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9HCH0.4); phosphorylation site"
     misc_feature    1919..1921
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:26549230; propagated from
                     UniProtKB/Swiss-Prot (Q9HCH0.4); phosphorylation site"
     misc_feature    2165..2167
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9HCH0.4); phosphorylation site"
     misc_feature    2438..3628
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     Region: Mediates interaction with beta-tubulin and is
                     required for microtubule bundle formation.
                     /evidence=ECO:0000269|PubMed:26482847"
     misc_feature    2489..2491
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:26549230,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9HCH0.4); phosphorylation site"
     misc_feature    2534..2842
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2636..2647
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     Region: (S/T)X(I/L)P motif 2.
                     /evidence=ECO:0000269|PubMed:26482847,
                     ECO:0000269|PubMed:26485573"
     misc_feature    2966..2977
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     Region: (S/T)X(I/L)P motif 3, required for interaction with
                     MAPRE1. /evidence=ECO:0000269|PubMed:26482847,
                     ECO:0000269|PubMed:26485573"
     misc_feature    2981..3049
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3146..3235
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3278..3739
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3770..3772
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9HCH0.4); phosphorylation site"
     misc_feature    3779..4192
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HCH0.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4863..4868
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="hexamer: AATAAA"
     polyA_site      4882
                     /gene="NCKAP5L"
                     /gene_synonym="Cep169; FP1193; KIAA1602"
                     /note="major polyA site"
ORIGIN
        1 ggcacccccc tttctctgcc ccccgccccc aagccgcggc catggacctg gcggatccgg
       61 cctgccctgg cccagctcaa cacctgattt cggcaaggtg accgttctgg atgctagagt
      121 gagtgtgccc acctgcgtaa gggggcagag acagcctgcc ggggcttctc ttccttgttc
      181 ccagggccag atgtcagagg ccatggacca gccagctggg ggtcctggaa acccaaggcc
      241 aggagagggt gatgatggca gcatggagcc aggcacctgc caggagcttc tgcaccgact
      301 gcgggagctg gaggcagaga actcggcact tgcccaggcc aacgaaaacc agcgggagac
      361 ttatgagcgc tgtctggacg aggttgccaa ccatgtggta caggcgttgc tgaaccagaa
      421 ggacctgcga gaggagtgca tcaagctgaa gaagagagtg tttgacctgg aacggcagaa
      481 ccagatgctg agtgccctgt ttcagcagaa actccagctc acgacaggct cgctccctca
      541 gatcccactc actccactcc agccaccatc agagccacca gcctccccct ccctgagctc
      601 cactgaggga ccggctgccc cgctgcctct ggggcactgt gctgggcaga gagaggtatg
      661 ttgggagcag cagctgaggc caggaggccc aggcccccca gccgccccac ccccagcgct
      721 ggatgcccta tccccgttcc ttcggaagaa ggcccagatt ctggaggtgc tgagagccct
      781 ggaagagact gaccccttgc ttctctgctc acctgccacc ccctggcggc ctccaggcca
      841 ggggcctggc tccccagagc ccatcaacgg cgagctgtgt ggcccgcctc agcctgaacc
      901 ctcaccctgg gcgccctgcc tgctgctagg ccctggcaac ctgggaggcc tgctgcactg
      961 ggagcgcctc ttggggggtc tgggagggga agaggacact gggcggccct ggggtcctag
     1021 caggggacct cctcaggccc agggcaccag ctctggccca aactgtgccc caggcagcag
     1081 ctcctcctcc tcttctgatg aggcaggtga ccccaatgag gcacccagcc ccgacaccct
     1141 gctcggtgcc ctggcccgca gacagttgaa cctgggccag ctccttgagg acacagagtc
     1201 ttacctacag gccttcctgg ccggggctgc aggcccactc aatggggacc acccaggtcc
     1261 tgggcagtca tcctccccag accaggcgcc cccacagctg tctaagtcca aaggcctccc
     1321 caagtcagct tggggtgggg gtaccccaga ggcccacagg ccaggcttcg gtgctacctc
     1381 agagggccag gggcccctcc ccttccttag catgttcatg ggtgctgggg atgccccact
     1441 gggctctcgg cctggccacc cccattcctc atctcaggtg aaaagcaagc tccaaattgg
     1501 ccccccttct cctggggaag ctcagggacc ccttctgccc tctccagcta ggggtctcaa
     1561 gtttctaaag ctgcctccaa cctcggagaa gagccccagc ccaggaggcc cgcagctcag
     1621 tccccagctc ccccggaact cgcgaatccc ctgtcggaac agtggctcag acggcagccc
     1681 ctccccactg ttggcccgaa ggggtctggg tggaggagag ctgtccccag agggggcgca
     1741 aggcctgccc accagccctt caccctgcta cacaacccca gactccacac agctcagacc
     1801 cccgcagtca gccttgtcca ccacgctgtc cccaggccca gtggtgtctc cctgctatga
     1861 gaacattctg gacctttctc ggagcacctt tagggggcct tccccagagc cacctccatc
     1921 cccactgcag gtgcccacct acccacagct aactctggag gtaccacagg cccctgaggt
     1981 cctcagaagc cctggagtac cccccagtcc ttgcctccca gaatcgtacc cctatgggag
     2041 cccccaagag aagagtttgg acaaggcagg ctcggagtct ccccatcccg gccgcaggac
     2101 cccaggcaac tcatccaaga agcccagcca ggggtcagga cggcgacctg gggatcctgg
     2161 cagcacacct ctgcgggaca gactggcggc cctggggaag ctgaagacag gccccgaggg
     2221 ggccctgggc tcagagaaga atggggtgcc agccaggcct ggcaccgaaa agacccgggg
     2281 acctgggaag tcaggggaga gtgctggaga catggtgccc tccatccaca ggccactgga
     2341 gcagctagaa gccaaggggg ggatacgggg ggcagtggcc ttgggcacaa acagcctgaa
     2401 gcagcaggaa cctggactta tgggggatcc cggggcccga gtctactcct ctcactccat
     2461 gggggcccgg gtggacctgg agcctgtctc accaaggagc tgcctcacca aagtggagct
     2521 ggccaagagc cggctggcag gggccctgtg cccccaggta ccccgtaccc ctgccaaagt
     2581 gccaacctca gccccaagcc tgggcaagcc caataagagc cctcacagca gccccaccaa
     2641 gctcccttcc aagtcaccaa ccaaggtggt gcctcgacct ggggctccgc tagtcaccaa
     2701 ggagtccccc aagcctgaca aagggaaggg ccctccctgg gcagactgtg gtagtaccac
     2761 ggcccagtcc acacccctag tacctggccc cactgaccca agtcagggcc ctgaggggct
     2821 ggccccacac tcagccatcg aggagaaggt gatgaagggc attgaggaga acgtgctgcg
     2881 gctccagggc caggagcgag cccctggcgc cgaggtcaag caccgcaaca ccagcagcat
     2941 cgccagctgg ttcggcctta agaagagcaa gctgccagcg ctgaaccgcc gcacagaggc
     3001 caccaagaac aaggaggggg ctggcggggg ctccccgctc cggagggaag tcaagatgga
     3061 agcccggaag ctggaggccg agagcctcaa catctccaag ctgatggcca aggcggaaga
     3121 cctgcgtcgg gcactggaag aggagaaggc ctacctaagc agccgggccc ggccacggcc
     3181 tggtggccca gccccagggc ccaacacggg gctggggcag gtgcagggcc agctggctgg
     3241 catgtaccaa ggtgcagaca ccttcatgca gcagctgcta aacagggtgg atggcaagga
     3301 gctgccatcc aagagctggc gggagcccaa gcctgagtac ggggatttcc agccggtgtc
     3361 ttctgacccc aagagcccct ggccagcctg tgggccccgg aatggcctgg tgggccctct
     3421 tcagggctgc ggaaaacctc ctggaaagcc gagcagcgag ccagggaggc gggaagagat
     3481 gccctcggag gacagcctgg ccgagccagt gcccacctca cacttcacag cctgtggctc
     3541 cttgactcga accttggaca gtggcattgg gaccttccca cccccagacc atggtagcag
     3601 tgggaccccc agcaagaatc ttcctaagac caagccaccg cggctggatc ccccacctgg
     3661 ggtaccccca gctcggcccc caccccttac caaagtcccc cgccgcgccc acacactgga
     3721 gcgggaggtg ccaggcatag aggagctgct ggtgagtggg cggcacccca gcatgccagc
     3781 cttccctgca ctgctacccg ctgctccggg ccaccggggc catgagacct gtcctgatga
     3841 tccctgtgaa gacccaggcc ccacccctcc tgtccagctg gccaagaact ggaccttccc
     3901 caatactagg gcagccggca gctcctcgga ccctctcatg tgcccacccc gacaactgga
     3961 ggggctgccc aggaccccca tggccctgcc cgtggaccgg aagcgaagcc aggagcccag
     4021 ccgcccgtcc cctacgcccc agggcccacc tttcgggggt agccgcaccc ccagcacttc
     4081 ggacatggcc gaggaaggca gagtggccag cgggggcccc ccagggctgg agacctcgga
     4141 gtctctcagt gactcactct acgactcgct gtcctcttgt gggagtcagg gctgaggggc
     4201 tgcgccacgc cacggccccg ctggagctgg ggaccacaga ctggaccggc tctcttcatg
     4261 cccagccccc ggagacgggg acccctccct gaagggacca aggaggcagg tggataagaa
     4321 ggtgaaaagg gggtccctgg cacaccccac cacccactgc ttcggcggat gagatgaccg
     4381 tgctcagctc agggagagac cccgcccttg gtcccttctc tcacccagag taaggctctt
     4441 cctggaaggg actgggggtt aaaggccact gtgtcgcagc cctccagtcc ctacttcagg
     4501 ctgagccatc ttgtggtgct gggcttcctg cccaccagcc gtgccatctc tgcccaaccc
     4561 ggctgctcct ctgccccgaa gccctcgcga ggccctcctg gaggcccccg tgctggtgga
     4621 gtttgggggc cagggggaca agttgccttc tctctctgcc ctggtcctcc ctgctgtctg
     4681 gatggtgctg ccctcctctg ccccatgcct ttggggtctg ttcgtccgtc ttttttgttg
     4741 ttgtttttat atattgaagc gcctggccca gcccccagcc cccagccccg cactgcggtt
     4801 aatttatgtg ttgtttaaaa tgcggctgct ctgcttcctg cctctgcttc tgccgtatcc
     4861 ctaataaaat gtggaggccc cc
//
LOCUS       NM_001037813            4336 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 284 (ZNF284), mRNA.
ACCESSION   NM_001037813
VERSION     NM_001037813.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4336)
  AUTHORS   Yin G, Ji C, Zeng L, Wang Z, Wang J, Shen Z, Wu T, Gu S, Xie Y and
            Mao Y.
  TITLE     Cloning and characterization of a novel KRAB-domain-containing zinc
            finger gene (ZNF284L)
  JOURNAL   Mol Biol Rep 33 (2), 137-144 (2006)
   PUBMED   16817023
  REMARK    GeneRIF: This study reports the cloning and characterization of a
            novel human zinc finger protein cDNA (ZNF284L) from fetal brain cDNA
            library. The ZNF284L cDNA is 2223 bp in length encoding a 593-aa
            polypeptide.
REFERENCE   2  (bases 1 to 4336)
  AUTHORS   Shannon M, Hamilton AT, Gordon L, Branscomb E and Stubbs L.
  TITLE     Differential expansion of zinc-finger transcription factor loci in
            homologous human and mouse gene clusters
  JOURNAL   Genome Res 13 (6A), 1097-1110 (2003)
   PUBMED   12743021
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CR936662.1, SRR1660807.189887.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000421176.4/ ENSP00000411032.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY458845.1, AC084219.2 and BM989725.1.
            On Nov 22, 2018 this sequence version replaced NM_001037813.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4336
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.31"
     gene            1..4336
                     /gene="ZNF284"
                     /gene_synonym="ZNF284L"
                     /note="zinc finger protein 284"
                     /db_xref="GeneID:342909"
                     /db_xref="HGNC:HGNC:13078"
     misc_feature    166..168
                     /gene="ZNF284"
                     /gene_synonym="ZNF284L"
                     /note="upstream in-frame stop codon"
     CDS             202..1983
                     /gene="ZNF284"
                     /gene_synonym="ZNF284L"
                     /codon_start=1
                     /product="zinc finger protein 284"
                     /protein_id="NP_001032902.1"
                     /db_xref="CCDS:CCDS46099.1"
                     /db_xref="GeneID:342909"
                     /db_xref="HGNC:HGNC:13078"
                     /translation="MTMFKEAVTFKDVAVVFTEEELGLLDVSQRKLYRDVMLENFRNLL
                     SVGHQLSHRDTFHFQREEKFWIMETATQREGNSGGKIQTELESVPETGPHEEWSCQQIW
                     EQTASELTRPQDSISSSQFSTQGDVPSQVDAGLSIIHIGETPSEHGKCKKFFSDVSILD
                     LHQQLHSGKISHTCNEYRKRFCYSSALCLHQKVHMGEKRYKCDVCSKAFSQNSQLQTHQ
                     RIHTGEKPFKCEQCGKSFSRRSGMYVHCKLHTGEKPHICEECGKAFIHNSQLREHQRIH
                     TGEKPFKCYICGKSFHSRSNLNRHSMVHMQEKSFRCDTCSNSFGQRSALNSHCMDHTKE
                     KLYKCEECGRSFTCRQDLCKHQMDHTGDKPYNCNVCGKGFRWSSCLSRHQRVHNGETTF
                     KCDGCGKRFYMNSQGHSHQRAYREEELYKCQKCGKGYISKFNLDLHQRVHTGERPYNCK
                     ECGKSFRWASGILRHKRLHTGEKPFKCEECGKRFTENSKLRFHQRIHTGEKPYKCEECG
                     KGFRWASTHLTHQRLHSREKLFQCEDCGKSSEHSSCLQDQQSDHSGEKTSKCEDCGKRY
                     ERRLNLDMILSLFLNDI"
     regulatory      4313..4318
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF284"
                     /gene_synonym="ZNF284L"
                     /note="hexamer: AATAAA"
     polyA_site      4336
                     /gene="ZNF284"
                     /gene_synonym="ZNF284L"
                     /note="major polyA site"
ORIGIN
        1 gcagtgcatt cggtggtagt ttggtgtcag tcctgtgtct tgtcggtcct tctaaacgtg
       61 tccccttacg atgctggctc gcaaccacct ggaagttgac taaggggaga aggagtctcg
      121 ttggaaaacg gaggcacaat tctgtcttct cttgaactgc ataactgaga actctgcaaa
      181 ttccccaaag aaggaggaaa aatgaccatg ttcaaggagg cagtgacctt caaggatgtg
      241 gctgtggtct tcaccgagga ggagctgggg ctgctggacg tttcccagag gaagctgtat
      301 cgagatgtca tgctggagaa cttcagaaac ctgctatcag tggggcatca actttcccac
      361 cgagatactt ttcacttcca aagagaagaa aagttttgga tcatggagac agcaacccaa
      421 agagaaggga attcaggagg caagatccaa actgagttgg agtctgttcc agaaacagga
      481 ccacatgaag agtggtcttg ccagcaaatc tgggaacaaa ctgcaagtga gttaactaga
      541 cctcaagact ccataagtag ctctcagttc tccacacaag gtgatgtccc ctcccaggtt
      601 gacgcaggac tatctataat tcacatagga gagacacctt ctgagcatgg gaagtgtaaa
      661 aaattcttca gtgatgtctc catccttgat cttcatcaac aattacactc aggaaagata
      721 tcccatacat gtaatgagta caggaagaga ttctgttata gctcagctct ttgtcttcat
      781 cagaaagttc acatgggaga gaaacgctat aagtgtgatg tgtgtagtaa ggcatttagt
      841 cagaactcac aactgcaaac tcatcagaga atccacactg gagagaaacc attcaaatgt
      901 gagcagtgtg ggaaaagttt cagccgtaga tcaggaatgt atgttcattg caaattacac
      961 acaggagaaa aacctcatat ttgtgaggaa tgtgggaagg ccttcattca caattcccag
     1021 cttcgggaac atcaaagaat ccatactggg gagaagccat tcaaatgtta tatatgtggt
     1081 aagagcttcc atagtagatc aaatcttaat aggcattcca tggtccacat gcaagagaaa
     1141 tcatttagat gtgatacctg tagtaatagc tttggtcaga gatcagcact taatagtcat
     1201 tgcatggacc acacaaaaga gaaactatac aaatgtgaag aatgtggaag gagcttcact
     1261 tgtaggcaag atctttgtaa gcatcagatg gaccatacag gagacaaacc atataattgt
     1321 aatgtatgtg ggaagggctt caggtggtcc tcatgtcttt caagacatca gcgggtccac
     1381 aatggagaaa caacattcaa gtgcgacgga tgtgggaaga gattttatat gaattcacag
     1441 ggccattcac atcagagagc ctatagagaa gaagaactgt ataaatgtca gaagtgtggg
     1501 aagggctaca ttagtaagtt taatcttgac ttgcaccaga gggtccacac gggagagaga
     1561 ccttataatt gtaaggaatg tggaaagagc ttcaggtggg cctcaggtat tttgagacat
     1621 aagagactcc atactggaga aaaaccattc aaatgtgaag agtgtgggaa gaggtttact
     1681 gagaattcaa aacttcgttt ccatcaaaga attcacactg gagaaaagcc ttacaaatgt
     1741 gaggagtgtg gaaagggatt cagatgggcc tcaactcatc taacccatca aagactccac
     1801 agcagagaaa aactattcca atgtgaggat tgtgggaaga gcagtgagca cagttcatgc
     1861 cttcaagacc aacaaagcga ccacagtgga gaaaaaacat ccaaatgtga ggactgtggg
     1921 aagcgctacg agaggcgctt gaatctagat atgattttat cattattttt aaatgatata
     1981 taattattgt ccatatttat gggttacagc atatttcaat acatgtatac aatgtataat
     2041 gatcaaatca gtgttattag catatccatc acctccttta tcatttattt gtggatcatt
     2101 tatcatttct ttgtgctttg aacgttcaaa aactgctgtt ctagttattt gaaaataagt
     2161 tattattaat tatagtcacc tttagtgctg tggaacacta gaacttgttc ctttcatcat
     2221 cttactgtac tttcatatct gttaacgaat ctttcatcat ccaccctctc tcctactttt
     2281 cccttctagt aattgctatg ccatgctgct tctgcttttt tttttttttt tttttttttt
     2341 tgagaacaga gtcttccagg cttgagtgta gtggcatgat cctttctcac tgcagcctcc
     2401 acctcctggg ttcaagcgat tctcctgcct aaacctcctg agtagcaggg attacaggca
     2461 cgcaccacca cgcccagcta atttttgtac tttttttttt ttttttttga gacagagtat
     2521 cgctctgtcg cccagtatgg agtgcaatgg cttgatctcg gctcactgca acctctgcct
     2581 cctgggttca aacgattctt ccctgccttg gcctcccgag tagctgggac tacaggcgcc
     2641 cgccaccaca cctgactaat tgttgtatgc gtagtagaga tggggttttg ccatattggc
     2701 caacctggac ttgaactcct gacttcagat gatccgccca cctcggcctc ccaaagtgct
     2761 gggattacag gcgtgagcca ccatgcccac catgcctaaa aatttttgta tttttagtga
     2821 agatggggtt tcaccacatt ggccaggcta gccttgaact cccaaactca aatggtccac
     2881 ctgccttggc ctcccaaagt gctgggatta caggcatgag ccaccgtgcc cagccaatgc
     2941 tatgctgctt ctatgatgtc aactttttag cttccacata tgtgtgaaaa catgtggtat
     3001 ttatctttct gggcctgaat ttacatcact caacatcatg ttctccaaag cttatcttta
     3061 tcttgccata aatgacagaa ttttattatt ttttatggtt aaatagtgta cctttgtgta
     3121 tgtatgccac attttcttta ccattttctg ttgatgaaca cttagattgg ttccatatgt
     3181 tagctattgc aaatagtact ataataaata taggagtgca gataggagtt caacacactg
     3241 atttcctttc ctttggatat acagctagta gtgggattgc tggatcactt gaatgctgat
     3301 atgcataaga ggatctacac tggagaaaaa ccatggaagt gtggagattg tggtacatgc
     3361 ttcagtcagg gctcacatct tcaaattcag tgtctgttct gtagagaaac cttaataatg
     3421 tgatatatgt gacagcaaag agttataaga tatgaatatg ttaattttag tagatacttc
     3481 cgaaaagtat ttcaaactgg ttgtaccact ataaactctg accattatta ggcaagaatt
     3541 ggcttttttt ttttttttct tttgagacag tcttgctctg tcacccagac tggcatgcag
     3601 tggaatgatc acggctccct gcagccttga cctcccaggc tcaagaaatc cttctgcctc
     3661 agcccctcaa aagctgggac tataggcatg caacaacacg cctggctaaa tttttgttgt
     3721 agagatgggg tctcactatg ttgcccaaat tggtctcaaa ctcctgggct caagcgattc
     3781 tccctcctca gccttccaaa gtgctgggat tacaggcctg agccatgcgc acagcatttt
     3841 gttttgtttt gttttgtttt tgagatgggg tctctcggtg ttgcccaggc tggattgctt
     3901 attcacagat gcagttacag tgccctatag cctcgaactc ctgggcctaa gtgatcctct
     3961 tgcttcaatc ccctgagaag ctgggactac aggcatggac caccacccct gattgatctt
     4021 ctttagtttc tataacaaaa tagtacactg tttccacaaa cttgggaagg ctagtatttg
     4081 ggggtggggg gcgtggaaat cactaaacaa caaagaaaat ctgatgaatt ggacagcata
     4141 aaaatattgg cataaagatg aacataacat aagcaggaat atttaaagca catacttttt
     4201 atagagtgtc tcccctgtaa tgtctctggt taaatgaaag ggtttcaaat gtgaagacaa
     4261 ccctaaccat actcattatc tgtaaaagat gtagcattgt catggactcc ttaataaacg
     4321 tgaagacttt aatcca
//
LOCUS       NM_001037814            2630 bp    mRNA    linear   PRI 22-DEC-2022
DEFINITION  Homo sapiens GRB2 associated binding protein family member 4 (GAB4),
            transcript variant 1, mRNA.
ACCESSION   NM_001037814
VERSION     NM_001037814.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2630)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB076978.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000400588.5/ ENSP00000383431.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB076978.1.
            On or before Mar 4, 2006 this sequence version replaced
            XM_927961.1, XM_937472.1.
FEATURES             Location/Qualifiers
     source          1..2630
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.1"
     gene            1..2630
                     /gene="GAB4"
                     /note="GRB2 associated binding protein family member 4"
                     /db_xref="GeneID:128954"
                     /db_xref="HGNC:HGNC:18325"
     misc_feature    94..96
                     /gene="GAB4"
                     /note="upstream in-frame stop codon"
     CDS             109..1833
                     /gene="GAB4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     GRB2-associated binder 2-like protein;
                     GRB2-associated-binding protein 4; GRB2-associated binder
                     4; growth factor receptor bound protein 2-associated
                     protein 4"
                     /codon_start=1
                     /product="GRB2-associated-binding protein 4 isoform 1"
                     /protein_id="NP_001032903.1"
                     /db_xref="CCDS:CCDS42976.1"
                     /db_xref="GeneID:128954"
                     /db_xref="HGNC:HGNC:18325"
                     /translation="MSLPSPSPSRELCPPDPAFAPLSSWPGSGPAGGSTRSGHVLYSGW
                     LRKSPPEKKLRLFAWRKRWFILRRGQTSSDPDVLEYYKNDGSKKPLRTINLNLCEQLDV
                     DVTLNFNKKEIQKGYMFDIKTSERTFYLVAETREDMNEWVQSICQICGFRQEESTGFLG
                     NISSASHGLCSSPAEPSCSHQHLPQEQEPTSEPPVSHCVPPTWPIPAPPGCLRSHQHAS
                     QRAEHARSASFSQGSEAPFIMRRNTAMQNLAQHSGYSVDGVSGHIHGFHSLSKPSQHNA
                     EFRGSTHRIPWSLASHGHTRGSLTGSEADNEASSGKYTQHGGGNASRPAESMHEGVCSF
                     LPGRTLVGLSDSIASEGSCVPMNPGSPTLPAVKQAGDDSQGVCIPVGSCLVRFDLLGSP
                     LTELSMHQDLSQGHEVQLPPVNRSLKPNQKANPTPPNLRNNRVINELSFKPPVTEPWSG
                     TSHTFDSSSSQHPISTQSITNTDSEDSGERYLFPNPASAFPVSGGTSSSAPPRSTGNIH
                     YAALDFQPSKPSIGSVTSGKKVDYVQVDLEKTQALQKTMHEQMCLRQSSEPPRGAKL"
     misc_feature    109..207
                     /gene="GAB4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2WGN9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    634..708
                     /gene="GAB4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2WGN9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    751..810
                     /gene="GAB4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2WGN9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    985..1101
                     /gene="GAB4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2WGN9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1360..1647
                     /gene="GAB4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2WGN9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 gctttctacc ccgcagtccc agggtatcgc aagccgtccc tcacacccca cctccagcaa
       61 cgccctctcg ccctgtctcc cccaccttca ctgtgagctg cagcccccat gtccctgccg
      121 tccccctcac cctcccggga gctgtgccca cctgacccgg catttgcgcc tttgtcttcg
      181 tggcccggaa gtggccccgc cggcggaagc acgagaagtg gccacgtgct gtacagcggc
      241 tggctgagga agtcgccccc cgagaagaag ctgaggctct ttgcctggag gaaacgctgg
      301 tttatcctgc ggaggggcca gactagcagt gacccagatg ttctggaata ctacaagaat
      361 gatggctcca agaagcccct gcgcaccatc aacctgaacc tctgtgagca gctggatgtt
      421 gatgtgactc tgaacttcaa caagaaggag attcagaagg gctatatgtt tgacatcaag
      481 accagtgagc gtacctttta cctggtggct gagaccaggg aggacatgaa tgagtgggtc
      541 cagagcatct gtcagatctg tggcttcagg caggaggaaa gcacaggctt cctgggaaac
      601 atttcctcag ccagtcacgg cctctgctct tctccagctg agcccagctg ctcccatcag
      661 cacctccccc aagaacaaga acccacatct gagcccccgg tgtctcactg tgtgccgccc
      721 acctggccca tccctgcacc tccggggtgt ctccgctcgc accagcacgc cagccagaga
      781 gcagaacatg caaggagtgc cagcttctcc cagggttctg aggccccatt catcatgagg
      841 agaaacacag ccatgcaaaa tcttgcccag cacagtggat acagtgttga tggggtcagc
      901 ggtcacatcc atggcttcca tagcctttcc aagcccagcc agcacaatgc agaattcaga
      961 ggcagcaccc acagaatccc ctggagcctg gcctcccatg gccacaccag aggcagcctc
     1021 acaggctctg aggcggataa tgaggcttcc tccggcaagt acacccagca tggtggaggg
     1081 aatgccagcc ggcctgctga gtccatgcat gagggagtct gttctttcct gccaggaaga
     1141 acgcttgtgg gcctgtcaga cagcattgct tctgagggca gctgtgtgcc catgaaccca
     1201 ggctccccta ccctgccggc tgtgaagcaa gcaggcgatg attcccaggg tgtctgcatc
     1261 cctgtgggct catgtcttgt tcgctttgac ctgcttggct ccccactcac agagctttct
     1321 atgcaccaag acctcagcca gggacatgag gtccagctgc cccctgtcaa ccgcagcctc
     1381 aagcctaacc agaaggccaa cccaacaccg cccaacctga gaaacaacag ggtcatcaat
     1441 gagctctcct tcaagccacc tgtcacagag ccctggtctg ggaccagcca cacctttgac
     1501 tccagctcct cccaacaccc catctccacg cagagcatca ccaacacaga ctcagaagac
     1561 agtggagaga ggtatctttt cccgaacccg gcatctgcat ttcctgtttc cggtggcacc
     1621 agcagttcag ccccgccgag gagcactggt aacatccact acgcggccct ggacttccag
     1681 ccgagcaagc catccatagg ctctgtcacg tccggcaaga aggtggacta tgtccaggtg
     1741 gatctggaga agacccaggc cctgcagaag accatgcatg aacagatgtg cctgcggcag
     1801 tcctcagagc ctcccagggg cgccaagctg tgactcgggc caccaaaacc agagtggggc
     1861 caggacagtg cctcagagct gctccgccac actctaaagc tctgtaatat cagggaccgc
     1921 atcccttaca tagagagcag aggcctgatc aatatacatc ctttgcctgc ttggggccca
     1981 cctgtgcctt tggctggcca tggtccccac cttcaccccc ttgctaggag cagttgccag
     2041 caagcatcct cagtctcttc ctgcccctca gacccgggct cccaacagat ttccactctc
     2101 acacttactc atggtcctca gcctcttcct tctagcctct gggctgtttc cctcaatcct
     2161 ggaacatgag gagctacctt gctgacccgg ggacccaagg cccacaggcc acagtggaca
     2221 tggacctttt cagccctggc attttttggt caggggagag gcaaggccat caaacgttgg
     2281 aatagttgag aaggaaggtt aaaggtggtc ttgagaagca aaggaattag atccttagac
     2341 cagcagggca gctgatacct gcaagggctc ccactttcag actgaggcca gagtatggca
     2401 gctgctcccg ggtgggagag gcagagaggg aagggcaaaa ggaagggaaa acatgaagac
     2461 gaacagccga aagccacaag aagcagggct ggagctccag agactggggt gacaaggacc
     2521 agggtcaggg ccccagaaat ccggagctgc aggctggctc tgctgctctt tgctgatgcc
     2581 ccttgggggg cccttgcctg cctaagaagg cttgatctga gctgggcaaa
//
LOCUS       NM_001037954            5826 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1,
            mRNA.
ACCESSION   NM_001037954
VERSION     NM_001037954.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5826)
  AUTHORS   Huang CQ, Yang P, Liu J, Wang YP, Hao DD and Yang X.
  TITLE     Circular RNA circ_0000423 promotes gastric cancer cell
            proliferation, migration and invasion via the
            microR-582-3p/Disheveled-Axin domain containing 1 axis
  JOURNAL   Bioengineered 12 (2), 12755-12766 (2021)
   PUBMED   34898351
  REMARK    GeneRIF: Circular RNA circ_0000423 promotes gastric cancer cell
            proliferation, migration and invasion via the
            microR-582-3p/Disheveled-Axin domain containing 1 axis.
REFERENCE   2  (bases 1 to 5826)
  AUTHORS   Chen ZF, Wang Y, Sun LL, Ding SY and Jinag H.
  TITLE     LncRNA SNHG20 enhances the progression of oral squamous cell
            carcinoma by regulating the miR-29a/DIXDC1/Wnt regulatory axis
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (10), 5436-5445 (2020)
   PUBMED   32495922
  REMARK    GeneRIF: LncRNA SNHG20 enhances the progression of oral squamous
            cell carcinoma by regulating the miR-29a/DIXDC1/Wnt regulatory axis.
REFERENCE   3  (bases 1 to 5826)
  AUTHORS   Xin H, Li C and Wang M.
  TITLE     DIXDC1 promotes the growth of acute myeloid leukemia cells by
            upregulating the Wnt/beta-catenin signaling pathway
  JOURNAL   Biomed Pharmacother 107, 1548-1555 (2018)
   PUBMED   30257373
  REMARK    GeneRIF: these results demonstrate that DIXDC1 promotes the growth
            of acute myeloid leukemia cells, possibly through upregulating the
            Wnt/beta-catenin signaling pathway
REFERENCE   4  (bases 1 to 5826)
  AUTHORS   Che X, Qian Y and Li D.
  TITLE     Suppression of Disheveled-Axin Domain Containing 1 (DIXDC1) by
            MicroRNA-186 Inhibits the Proliferation and Invasion of
            Retinoblastoma Cells
  JOURNAL   J Mol Neurosci 64 (2), 252-261 (2018)
   PUBMED   29264763
  REMARK    GeneRIF: DIXDC1 silencing inhibited cell proliferation, invasion,
            and Wnt signaling in retinoblastoma cell lines. DIXDC1 was
            identified as a target gene of miR-186
REFERENCE   5  (bases 1 to 5826)
  AUTHORS   Liu T, Wang L, Chen Q, Zheng L and Zhu H.
  TITLE     A novel monoclonal antibody specific to DIXDC1 protein
  JOURNAL   Hybridoma (Larchmt) 28 (3), 183-188 (2009)
   PUBMED   19519246
REFERENCE   6  (bases 1 to 5826)
  AUTHORS   Wu Y, Jing X, Ma X, Wu Y, Ding X, Fan W and Fan M.
  TITLE     DIXDC1 co-localizes and interacts with gamma-tubulin in HEK293 cells
  JOURNAL   Cell Biol Int 33 (6), 697-701 (2009)
   PUBMED   19375513
  REMARK    GeneRIF: The GFP-tag fused DIXDC1 exogenously expressed co-localize
            with gamma-tubulin both at interphase and mitotic phase in the
            centrosomes.
REFERENCE   7  (bases 1 to 5826)
  AUTHORS   Jing XT, Wu HT, Wu Y, Ma X, Liu SH, Wu YR, Ding XF, Peng XZ, Qiang
            BQ, Yuan JG, Fan WH and Fan M.
  TITLE     DIXDC1 promotes retinoic acid-induced neuronal differentiation and
            inhibits gliogenesis in P19 cells
  JOURNAL   Cell Mol Neurobiol 29 (1), 55-67 (2009)
   PUBMED   18629627
  REMARK    GeneRIF: DIXDC1 might play an important role during neurogenesis,
            overexpression of DIXDC1 in embryonic carcinoma P19 cells promoted
            neuronal differentiation, and inhibited gliogenesis induced by
            retinoic acid.
REFERENCE   8  (bases 1 to 5826)
  AUTHORS   Wang X, Zheng L, Zeng Z, Zhou G, Chien J, Qian C, Vasmatzis G,
            Shridhar V, Chen L and Liu W.
  TITLE     DIXDC1 isoform, l-DIXDC1, is a novel filamentous actin-binding
            protein
  JOURNAL   Biochem Biophys Res Commun 347 (1), 22-30 (2006)
   PUBMED   16814745
  REMARK    GeneRIF: Thus, our data provide the first evidence that l-DIXDC1 may
            act as a novel branching component in the Wnt signaling pathway
            targeting both beta-catenin-TCF complex for gene expression and
            cytoskeleton for regulating dynamics of actin filaments.
REFERENCE   9  (bases 1 to 5826)
  AUTHORS   Wong CK, Luo W, Deng Y, Zou H, Ye Z and Lin SC.
  TITLE     The DIX domain protein coiled-coil-DIX1 inhibits c-Jun N-terminal
            kinase activation by Axin and dishevelled through distinct
            mechanisms
  JOURNAL   J Biol Chem 279 (38), 39366-39373 (2004)
   PUBMED   15262978
  REMARK    GeneRIF: Ccd1 inhibits Axin-mediated JNK activation by
            simultaneously adopting two distinct mechanisms, one through
            conformational changes that disallow MEKK1 binding and the other via
            direct sequestration of MEKK4.
REFERENCE   10  (bases 1 to 5826)
  AUTHORS   Katoh M and Katoh M.
  TITLE     KIAA1735 gene on human chromosome 11q23.1 encodes a novel protein
            with myosine-tail homologous domain and C-terminal DIX domain
  JOURNAL   Int J Oncol 23 (1), 145-150 (2003)
   PUBMED   12792787
  REMARK    GeneRIF: KIAA1735 maps to human chromosome 11q23.1 and encodes a
            novel protein with a myosine-tail homologous domain and C-terminal
            DIX domain GeneRIF: MTHDIX (KIAA1735) protein consists of
            Myosine-tail homologous (MTH) domain and C-terminal DIX domain.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.209402.1,
            SRR1660803.98652.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000440460.7/ ENSP00000394352.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DQ642016.1, BC064479.1,
            AB051522.1, AB074187.1, DB358954.1 and AP000907.6.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001037954.3.
            Summary: The protein encoded by this gene is a positive regulator
            of the Wnt signaling pathway. The encoded protein is found
            associated with gamma tubulin at the centrosome. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Jun 2013].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a, also known as
            l-DIXDC1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5826
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.1"
     gene            1..5826
                     /gene="DIXDC1"
                     /gene_synonym="CCD1"
                     /note="DIX domain containing 1"
                     /db_xref="GeneID:85458"
                     /db_xref="HGNC:HGNC:23695"
                     /db_xref="MIM:610493"
     misc_feature    65..67
                     /gene="DIXDC1"
                     /gene_synonym="CCD1"
                     /note="upstream in-frame stop codon"
     CDS             158..2209
                     /gene="DIXDC1"
                     /gene_synonym="CCD1"
                     /note="isoform a is encoded by transcript variant 1; dixin;
                     coiled-coil protein DIX1"
                     /codon_start=1
                     /product="dixin isoform a"
                     /protein_id="NP_001033043.1"
                     /db_xref="CCDS:CCDS73381.1"
                     /db_xref="GeneID:85458"
                     /db_xref="HGNC:HGNC:23695"
                     /db_xref="MIM:610493"
                     /translation="MLACLTRGNLLDVLQEGFNEQQLQAYVAWVNAQLKKRPAVKPVQD
                     LRQDLRDGVILAYLIEIVAGEKLSGVQLSPGNQQEMKNNVEKVLQFVASKKIRMHQTSA
                     KDIVDGNLKSIMRLVLALAAHFKPGSSRTVNQGRDSRAPLQSHRPHCATAVAQGAAAAL
                     ADVCHDMSRSGRDVFRYRQRNSSMDEEIENPYWSVRALVQQYEGQQRSPSESSCSSLTS
                     PSPIHSAKSESIITQSEEKADFVIIPAEGIENRTEGTDSPLSRDWRPGSPGTYLETSWE
                     EQLLEQQEYLEKEMEEAKKMISGLQALLLNGSLPEDEQERPLALCEPGVNPEEQLIIIQ
                     SRLDQSMEENQDLKKELLKCKQEARNLQGIKDALQQRLTQQDTSVLQLKQELLRANMDK
                     DELHNQNVDLQRKLDERNRLLGEYKKELGQKDRLLQQHQAKLEEALRKLSDVSYHQVDL
                     ERELEHKDVLLAHCMKREADEATNYNSHNSQSNGFLLPTAGKGATSVSNRGTSDLQLVR
                     DALRSLRNSFSGHDPQHHTIDSLEQGISSLMERLHVMETQKKQERKVRVKSPRTQVGSE
                     YRESWPPNSKLPHSQSSPTVSSTCTKVLYFTDRSLTPFMVNIPKRLEEVTLKDFKAAID
                     REGNHRYHFKALDPEFGTVKEEIFHDDDAIPGWEGKIVAWVEEDHGEN"
     misc_feature    536..1057
                     /gene="DIXDC1"
                     /gene_synonym="CCD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q155Q3.2);
                     Region: Actin-binding.
                     /evidence=ECO:0000269|PubMed:16814745"
     misc_feature    713..715
                     /gene="DIXDC1"
                     /gene_synonym="CCD1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q80Y83; propagated from
                     UniProtKB/Swiss-Prot (Q155Q3.2); phosphorylation site"
     misc_feature    776..862
                     /gene="DIXDC1"
                     /gene_synonym="CCD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q155Q3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    848..850
                     /gene="DIXDC1"
                     /gene_synonym="CCD1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q80Y83; propagated from
                     UniProtKB/Swiss-Prot (Q155Q3.2); phosphorylation site"
     misc_feature    1601..1684
                     /gene="DIXDC1"
                     /gene_synonym="CCD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q155Q3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1823..1939
                     /gene="DIXDC1"
                     /gene_synonym="CCD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q155Q3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1925..1927
                     /gene="DIXDC1"
                     /gene_synonym="CCD1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q155Q3.2); phosphorylation site"
     regulatory      5733..5738
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DIXDC1"
                     /gene_synonym="CCD1"
                     /note="hexamer: AATAAA"
     polyA_site      5757
                     /gene="DIXDC1"
                     /gene_synonym="CCD1"
                     /note="major polyA site"
     regulatory      5801..5806
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DIXDC1"
                     /gene_synonym="CCD1"
                     /note="hexamer: AATAAA"
     polyA_site      5826
                     /gene="DIXDC1"
                     /gene_synonym="CCD1"
ORIGIN
        1 agtttggctc cagtctaggt ttccagtaag tggcatgcgg gactccggag ggatcccaat
       61 gagctgagcc gagagccttt gtgtgcagag ggaggaggag gaggcggcgg cggccgccgg
      121 gctggagacc ccgcccgggg agcccccagc aggaacaatg ctagcctgcc tgacccgagg
      181 gaacttactg gacgtcctgc aggagggctt caatgagcaa cagctgcagg cctatgtggc
      241 ctgggtgaat gcacagctga agaagaggcc agcagtgaag cctgtgcagg acctgcgaca
      301 agatctccgg gatggggtga tcctggcata tctcatcgag attgttgcag gagaaaagct
      361 gagtggggta cagctgagtc ccggtaacca acaggagatg aagaataatg tggagaaagt
      421 gctacagttt gtggcctcta aaaagattcg tatgcaccag acttcggcta aagatattgt
      481 ggatggaaac ctgaagtcta tcatgaggct ggtccttgcc ttggcagctc atttcaaacc
      541 tggctccagc aggacggtga accaaggacg ggactccaga gcccctctgc aaagtcaccg
      601 accacactgt gccactgctg ttgcccaggg agcagctgct gctctggccg atgtgtgtca
      661 tgacatgtcc cgatcaggac gggatgtctt tcgatataga cagaggaaca gcagcatgga
      721 tgaggaaatt gagaatccat actggagtgt gcgggcccta gtgcagcagt acgaagggca
      781 acaaaggtcc ccgtctgaat ccagctgctc cagcctgact tcacccagtc caatccacag
      841 tgcaaagagc gagtccatta taacccagtc agaagagaag gcagattttg tgattattcc
      901 cgctgaagga atagagaaca gaacagaagg gacagattct ccattatctc gagactggcg
      961 gccagggagc cctggaacct atctggagac ctcatgggaa gaacagctgt tggaacaaca
     1021 agaatattta gaaaaagaaa tggaggaagc aaagaaaatg atatcaggac tacaggcctt
     1081 actgctcaat ggatccttac ctgaagatga acaggagagg cccttggccc tctgtgaacc
     1141 aggtgtcaat cccgaggaac aactgattat aatccaaagt cgtctggatc agagtatgga
     1201 ggagaatcag gacttaaaga aggaactgct gaaatgtaaa caagaagcca gaaacttaca
     1261 ggggataaag gatgccttgc agcagagatt gactcagcag gacacatctg ttcttcagct
     1321 caaacaagag ctactgaggg caaatatgga caaagatgag ctgcacaacc agaatgtgga
     1381 tctgcagagg aagctagatg agaggaaccg gctcttggga gaatataaaa aagagctggg
     1441 gcagaaggat cgccttcttc agcagcacca ggccaagtta gaagaagcac tccggaaact
     1501 ctctgatgtc agttaccacc aggtggatct agagcgagag ctagaacaca aagatgtcct
     1561 cttggctcac tgtatgaaaa gagaggcaga tgaggcgacc aactacaaca gtcacaactc
     1621 tcaaagcaat ggttttctcc ttccaacggc aggaaaagga gctacttcag tcagcaacag
     1681 agggaccagc gacctgcagc ttgttcgaga tgctctccgc agcctgcgca acagcttcag
     1741 tggccacgat cctcagcacc acactattga cagcttggag cagggcattt ctagcctcat
     1801 ggagcgcctg catgttatgg agacgcagaa gaaacaagaa agaaaggttc gggtcaagtc
     1861 acccagaact caagtaggta gtgaataccg ggagtcctgg ccccctaact caaagttgcc
     1921 tcactcacag agctctccaa ctgtcagcag cacctgtact aaagtgctct atttcactga
     1981 ccggtcactt acgcccttca tggtcaatat accaaagagg ttggaggagg tgacgttaaa
     2041 ggattttaaa gcagctattg atcgggaagg aaatcaccgg tatcacttca aagcactgga
     2101 tcctgagttt ggcactgtca aagaggagat tttccatgat gatgatgcca tccctggatg
     2161 ggaagggaaa attgtagctt gggtggaaga agaccatgga gagaattaat gccaagtatc
     2221 agattgaggg cttatggaac ctggtcactc cctggctgct tcactcagga aagggaacta
     2281 aaaccagaat acactaagaa gtttctagtt tgtgtgccaa aacagaagct tctccaagca
     2341 tgatggccac aggtcagtcc tctttctgtg cctggcatat ctggtactta aaattctgtc
     2401 caaatgtaga ccatgggttc atctggagtt ccttgtccgt gggaacacag tgttctattc
     2461 tactctgagg acaacaaacc gaaggcctta aacgatgggg atggatgatc ccgcctctgt
     2521 aggggcatgg ctgctattat ctggaaatta ggaattggat gcatcattcc tgtgtgttac
     2581 agtattattt taattggcct caatggttgc agcaatcaga gtcccagcgt ttgtactcac
     2641 agacaaggca aaggtaccag cttttctgtt tctttgaacc tactgcaaac caagaataac
     2701 tcatgaggtg gtaccaaaga tgaaagccca gacttcagta atcttttgaa ccagacgtgg
     2761 atggtgctga attgttgctt ggatggaaaa agggctgccc atgttgtgct acactatgct
     2821 aaaactgtaa tttagtaaga ccttgggctg cctcttctgt cttaactggt tctgcagctt
     2881 gtccttttgc ccacataggg cctatttcat gtactgttag ttttctctgg ggactcttta
     2941 actttagagc catttctttt tcttcaaact gatgaacttt tgtttgaaag gcataaggag
     3001 tgaaaagctc cttgaaaatc caggcgggta tggaaaggtg ctgctaccca tatctttttg
     3061 actttctttg tttcatgact ttaactcatg gcatctcctt tgtagtaaaa ggagacagac
     3121 cattaatttc agcatttctt tgtgatttat aagtactgag catgaagtac ttgtctgccc
     3181 ctcatttcaa ggccagagtt attttctatt tatgtattag tctaggctga tcttttaggg
     3241 cacaatagaa accatggggc gtggagcatg agttgtgaat ggcagggatc attctgggta
     3301 aaaaaaacct agaatcattt ctgatgtgca acattgtcaa gtgaagaagc taacagttca
     3361 actaccgaga ttatttgata acctgggttt tctcattcat ccatcaagca ccatcaacca
     3421 gtcagccatt attatttata tatgtattac caaaagcagt ctatctgcct gtgacctcca
     3481 atgtacactg ccaaacacaa gagtaggaca catctgttct gggttcttga cctatctgtc
     3541 tccaattcat ctcccctttt cagccatttc aacaaactac tctttggagc tctgagatga
     3601 catcttgttg ttttatatag atgtatcttt taaaaatagt tcacgtttgg agaattcttt
     3661 tgtactcatt tgctttttgt ctgagaacca tgtctatttt tataactgga gtgtgagttc
     3721 tgtatcttct cacattctgt atactgtatc cattttctag agaacccagt agcttttata
     3781 cagtctcttc ttaccacccc ttgtggtttc agaacaagct ttattttatt acgagtatat
     3841 taatgacaac taattcctgt tccaattcta cctgttttag ttgtgaaggt agttttgtgt
     3901 aatccagttg attgctcctc tggcagagag aaggagctca aaagatactt gatgtctttc
     3961 atgtaagttt acctggtctt ttcctattga agaatttttc atcagaaacg actgggaaag
     4021 tttgggaaag tcagcaaaag aaagaatgca tttcgaaagc aaacagaaga aaaaagtata
     4081 ttctcacagt ttttccccag gaagtctgga gaaaaagtcc tcatgtcacc aatttctctg
     4141 ttgcatgaat tttagtgttt tgctataaga cagcatgagg gctatcaggc caaaattcat
     4201 tattgtattt ccaatacagt ttgtcttgaa tgtctgtctc ttaaaccagt ttttacttgt
     4261 cagttttctc tcagcaaaca gtcttactat tatgtggaat ttaacttttc agagaaaatt
     4321 tccaaagtcc tctaccttat ttggctttta tctgtgtctt ttggaaaagg agctgcatgg
     4381 cctcagtgcc tccataaaaa gcttaagttg agttcatggg agaacattaa gatcgttttt
     4441 tttccctttt agctcggtaa tctcatgtac cacaggtaat gaccaagcat ctctgctaga
     4501 ggatgtaact ctcataactc ctgtgtaaaa tgaggatcct gttggtgatc ctcattccag
     4561 tttccaaagc gagaggagcc ttctgagcag aagtatgcaa gactgattct gtttggaaca
     4621 gtttcctatt tggctgcatt ctaggaggcc tcctgactta ttcatagtat tgtcgcctgg
     4681 tggcattggt gtggggtagc ttgtcctgct acttgctaaa gttctctttc tttgagaaaa
     4741 ctgaggaacc agaatgctta gagttcataa aataatctct aaaccatgtt aggttaaaac
     4801 aaaatgacca tctcacaaaa acgagtttag ttgaatgctc aattccttac aaaatcttca
     4861 tttaaggctg agtgtggtgg ctcatgcctg taattccagc actttgggag gccgaggcag
     4921 gaagactgct tgagcccagg agttcaagac cagcctgggc aacgtaggaa gactccgtct
     4981 ctacatagaa attttattat aaaagtagct ggggatggtg gcacacacct gtagtcccag
     5041 ctactcagga ggttgaggtg ggaagattgc ttgagcccag gagtttgagg ttgcagtgag
     5101 ctgatcatgc cactgcactc tagcctaggc tacagagcag gaccccatct ccaaaaaaaa
     5161 aaaaaaaaaa gtcatttaaa aactgaagaa tgttctcttc ttgctcagtt ccctaaatta
     5221 gctgggggga ttgggatact ttacaatttt tacattttta aatttgaaga atttgtttta
     5281 aacttacttg gtaatggcac ttctacttac tgaccaactt ttcagctctt tttgaccagg
     5341 atggttgcaa attagggaaa atatctttat actatacatc caattcaaga ggactttaat
     5401 tacttaaaag catttaggtc ataattaaaa ttattttcac tgtttccata aaataagcat
     5461 tatgattgca cactccttct actgtctgaa tttatgtaag aggtatagct tgcttaaaat
     5521 acatatatat gtaaagttat attttcttag aaacatggat gtttacagcc attgctttca
     5581 aagagattat tactgtgtat tctccctgtt ttacaatatg ttttcatgaa gactatgtta
     5641 caccagaggc ttctgattat caaagtgata accagtttta actgccggta tgtaccagat
     5701 ttgtgaacta atttaaaaaa ccacaaacta tgaataaaat ggggtttgca aactaaatat
     5761 cattaatgat tttcacttgc gtttactgat gagattaatc aataaagcca tttacattta
     5821 gtgaaa
//
LOCUS       NM_001037984            4491 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens solute carrier family 38 member 10 (SLC38A10),
            transcript variant 1, mRNA.
ACCESSION   NM_001037984
VERSION     NM_001037984.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4491)
  AUTHORS   Hashimoto M, Yamazaki A, Ohno A, Kimura T, Winblad B and Tjernberg
            LO.
  TITLE     A Fragment of S38AA is a Novel Plasma Biomarker of Alzheimer's
            Disease
  JOURNAL   J Alzheimers Dis 71 (4), 1163-1174 (2019)
   PUBMED   31524172
  REMARK    GeneRIF: A Fragment of S38AA is a Novel Plasma Biomarker of
            Alzheimer's Disease.
REFERENCE   2  (bases 1 to 4491)
  AUTHORS   Hellsten SV, Hagglund MG, Eriksson MM and Fredriksson R.
  TITLE     The neuronal and astrocytic protein SLC38A10 transports glutamine,
            glutamate, and aspartate, suggesting a role in neurotransmission
  JOURNAL   FEBS Open Bio 7 (6), 730-746 (2017)
   PUBMED   28593130
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4491)
  AUTHORS   Schioth HB, Roshanbin S, Hagglund MG and Fredriksson R.
  TITLE     Evolutionary origin of amino acid transporter families SLC32, SLC36
            and SLC38 and physiological, pathological and therapeutic aspects
  JOURNAL   Mol Aspects Med 34 (2-3), 571-585 (2013)
   PUBMED   23506890
  REMARK    Review article
REFERENCE   4  (bases 1 to 4491)
  AUTHORS   Lauc G, Huffman JE, Pucic M, Zgaga L, Adamczyk B, Muzinic A,
            Novokmet M, Polasek O, Gornik O, Kristic J, Keser T, Vitart V,
            Scheijen B, Uh HW, Molokhia M, Patrick AL, McKeigue P, Kolcic I,
            Lukic IK, Swann O, van Leeuwen FN, Ruhaak LR, Houwing-Duistermaat
            JJ, Slagboom PE, Beekman M, de Craen AJ, Deelder AM, Zeng Q, Wang W,
            Hastie ND, Gyllensten U, Wilson JF, Wuhrer M, Wright AF, Rudd PM,
            Hayward C, Aulchenko Y, Campbell H and Rudan I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet 9 (1), e1003225 (2013)
   PUBMED   23382691
REFERENCE   5  (bases 1 to 4491)
  AUTHORS   Yashin AI, Wu D, Arbeev KG and Ukraintseva SV.
  TITLE     Joint influence of small-effect genetic variants on human longevity
  JOURNAL   Aging (Albany NY) 2 (9), 612-620 (2010)
   PUBMED   20834067
REFERENCE   6  (bases 1 to 4491)
  AUTHORS   Sundberg BE, Waag E, Jacobsson JA, Stephansson O, Rumaks J, Svirskis
            S, Alsio J, Roman E, Ebendal T, Klusa V and Fredriksson R.
  TITLE     The evolutionary history and tissue mapping of amino acid
            transporters belonging to solute carrier families SLC32, SLC36, and
            SLC38
  JOURNAL   J Mol Neurosci 35 (2), 179-193 (2008)
   PUBMED   18418736
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.2090179.1,
            DRR138512.182977.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374759.8/ ENSP00000363891.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY036951.1, BQ642219.1, BC014642.1, AK128330.1, BU552914.1,
            BI194553.1, BM129331.1 and CA447446.1.
            On Nov 22, 2018 this sequence version replaced NM_001037984.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4491
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..4491
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="solute carrier family 38 member 10"
                     /db_xref="GeneID:124565"
                     /db_xref="HGNC:HGNC:28237"
                     /db_xref="MIM:616525"
     misc_feature    129..131
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="upstream in-frame stop codon"
     CDS             387..3746
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="isoform a is encoded by transcript variant 1;
                     putative sodium-coupled neutral amino acid transporter 10;
                     Sodium-coupled neutral amino acid transporter 10"
                     /codon_start=1
                     /product="putative sodium-coupled neutral amino acid
                     transporter 10 isoform a"
                     /protein_id="NP_001033073.1"
                     /db_xref="CCDS:CCDS42397.1"
                     /db_xref="GeneID:124565"
                     /db_xref="HGNC:HGNC:28237"
                     /db_xref="MIM:616525"
                     /translation="MTAAAASNWGLITNIVNSIVGVSVLTMPFCFKQCGIVLGALLLVF
                     CSWMTHQSCMFLVKSASLSKRRTYAGLAFHAYGKAGKMLVETSMIGLMLGTCIAFYVVI
                     GDLGSNFFARLFGFQVGGTFRMFLLFAVSLCIVLPLSLQRNMMASIQSFSAMALLFYTV
                     FMFVIVLSSLKHGLFSGQWLRRVSYVRWEGVFRCIPIFGMSFACQSQVLPTYDSLDEPS
                     VKTMSSIFASSLNVVTTFYVMVGFFGYVSFTEATAGNVLMHFPSNLVTEMLRVGFMMSV
                     AVGFPMMILPCRQALSTLLCEQQQKDGTFAAGGYMPPLRFKALTLSVVFGTMVGGILIP
                     NVETILGLTGATMGSLICFICPALIYKKIHKNALSSQVVLWVGLGVLVVSTVTTLSVSE
                     EVPEDLAEEAPGGRLGEAEGLMKVEAARLSAQDPVVAVAEDGREKPKLPKEREELEQAQ
                     IKGPVDVPGREDGKEAPEEAQLDRPGQGIAVPVGEAHRHEPPVPHDKVVVDEGQDREVP
                     EENKPPSRHAGGKAPGVQGQMAPPLPDSEREKQEPEQGEVGKRPGQAQALEEAGDLPED
                     PQKVPEADGQPAVQPAKEDLGPGDRGLHPRPQAVLSEQQNGLAVGGGEKAKGGPPPGNA
                     AGDTGQPAEDSDHGGKPPLPAEKPAPGPGLPPEPREQRDVERAGGNQAASQLEEAGRAE
                     MLDHAVLLQVIKEQQVQQKRLLDQQEKLLAVIEEQHKEIHQQRQEDEEDKPRQVEVHQE
                     PGAAVPRGQEAPEGKARETVENLPPLPLDPVLRAPGGRPAPSQDLNQRSLEHSEGPVGR
                     DPAGPPDGGPDTEPRAAQAKLRDGQKDAAPRAAGTVKELPKGPEQVPVPDPAREAGGPE
                     ERLAEEFPGQSQDVTGGSQDRKKPGKEVAATGTSILKEANWLVAGPGAETGDPRMKPKQ
                     VSRDLGLAADLPGGAEGAAAQPQAVLRQPELRVISDGEQGGQQGHRLDHGGHLEMRKAR
                     GGDHVPVSHEQPRGGEDAAVQEPRQRPEPELGLKRAVPGGQRPDNAKPNRDLKLQAGSD
                     LRRRRRDLGPHAEGQLAPRDGVIIGLNPLPDVQVNDLRGALDAQLRQAAGGALQVVHSR
                     QLRQAPGPPEES"
     misc_feature    396..458
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBR0.2);
                     transmembrane region"
     misc_feature    492..560
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBR0.2);
                     transmembrane region"
     misc_feature    636..698
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBR0.2);
                     transmembrane region"
     misc_feature    744..806
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBR0.2);
                     transmembrane region"
     misc_feature    843..905
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBR0.2);
                     transmembrane region"
     misc_feature    1071..1133
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBR0.2);
                     transmembrane region"
     misc_feature    1200..1262
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBR0.2);
                     transmembrane region"
     misc_feature    1353..1415
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBR0.2);
                     transmembrane region"
     misc_feature    1419..1481
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBR0.2);
                     transmembrane region"
     misc_feature    1518..1580
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBR0.2);
                     transmembrane region"
     misc_feature    1698..2459
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBR0.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2220..2222
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5I012; propagated from
                     UniProtKB/Swiss-Prot (Q9HBR0.2); phosphorylation site"
     misc_feature    2577..3599
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HBR0.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2700..2702
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9HBR0.2); phosphorylation site"
     misc_feature    2790..2792
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9HBR0.2); phosphorylation site"
     misc_feature    3051..3053
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:E9PT23; propagated from
                     UniProtKB/Swiss-Prot (Q9HBR0.2); phosphorylation site"
     misc_feature    3279..3281
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9HBR0.2); phosphorylation site"
     misc_feature    3375..3377
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9HBR0.2); phosphorylation site"
     regulatory      4279..4284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="hexamer: AATAAA"
     polyA_site      4302
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="major polyA site"
     regulatory      4466..4471
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
                     /note="hexamer: AGTAAA"
     polyA_site      4491
                     /gene="SLC38A10"
                     /gene_synonym="PP1744; SNAT10"
ORIGIN
        1 ggaagtgtga gcgccgcggc ggcagctgag ttgggctgag gtgtccctag ctggctctgc
       61 ggctcttccg ggtctgggct cggagattca caggcggccc gcgaggccga gcgagggacg
      121 catggccctg aggcggccgc agggcttggc ggggtccgga ggttgacctc gcccccgcag
      181 ccggccttcg aggctgcctc ctccaggcag cctctggggc ccgcgcccgc gcctgctcag
      241 gctcccgtgt tcaggctgcc catcccctcc ccaccggcgt cccggacgtt gggacctgtg
      301 accgtggcct cgggctgggc ttccaaagcc ggccgcagcc cggcgacccc cgaggcctct
      361 cgccccgggc ccctagacct ctcactatga ccgcggccgc cgcctccaac tgggggctga
      421 tcacgaacat cgtgaacagc atcgtagggg tcagtgtcct caccatgccc ttctgcttca
      481 aacagtgcgg catcgtcctg ggggcgctgc tcttggtctt ctgctcatgg atgacgcacc
      541 agtcgtgcat gttcttggtg aagtcggcca gcctgagcaa gcggaggacc tacgccggcc
      601 tggcattcca cgcctacggg aaggcaggca agatgctggt ggagaccagc atgatcgggc
      661 tgatgctggg cacctgcatc gccttctacg tcgtgatcgg cgacttgggg tccaacttct
      721 ttgcccggct gttcgggttt caggtgggcg gcaccttccg catgttcctg ctgttcgccg
      781 tgtcgctgtg catcgtgctc ccgctcagcc tgcagcggaa catgatggcc tccatccagt
      841 ccttcagcgc catggccctc ctcttctaca ccgtgttcat gttcgtgatc gtgctctcct
      901 ctctcaagca cggcctcttc agtgggcagt ggctgcggcg ggtcagctac gtccgctggg
      961 agggcgtctt ccgctgcatc cccatcttcg gcatgtcctt cgcctgccag tcccaggtgc
     1021 tgcccaccta cgacagcctg gatgagccgt cagtgaaaac catgagctcc atatttgctt
     1081 cctcccttaa tgtggtcacc accttctacg tcatggtggg gtttttcggc tacgtcagct
     1141 tcaccgaggc cacggccggc aacgtgctca tgcactttcc ctccaacctg gtgacggaga
     1201 tgctccgtgt gggcttcatg atgtcagtgg ctgtgggctt ccccatgatg atcctgccat
     1261 gcaggcaggc cctgagcacg ctgctgtgtg agcagcagca aaaagatggc acctttgcag
     1321 cagggggcta catgccccct ctccggttta aagcacttac cctctctgtg gtgtttggaa
     1381 ccatggttgg tggcatcctt atccccaacg tggagaccat cctgggcctc acaggagcga
     1441 ccatgggaag cctcatctgc ttcatctgcc cggcgctgat ctacaagaaa atccacaaga
     1501 acgcactttc ctcccaggtg gtgctgtggg tcggcctggg cgtcctggtg gtgagcactg
     1561 tcaccacact gtctgtgagc gaggaggtcc ccgaggactt ggcagaggaa gcccctggcg
     1621 gccggcttgg agaggccgag ggtttgatga aggtggaggc agcgcggctc tcagcccagg
     1681 atccggttgt ggccgtggct gaggatggcc gggagaagcc gaagctgccg aaggagagag
     1741 aggagctgga gcaggcccag atcaaggggc ccgtggatgt gcctggacgg gaagatggca
     1801 aggaggcacc ggaggaggca cagctcgatc gccctgggca agggattgct gtgcctgtgg
     1861 gcgaggccca ccgccacgag cctcctgttc ctcacgacaa ggtggtggta gatgaaggcc
     1921 aagaccgaga ggtgccagaa gagaacaaac ctccatccag acacgcgggc ggaaaggctc
     1981 caggggtcca gggccagatg gcgccgcctc tgcccgactc agaaagagag aaacaagagc
     2041 cggagcaggg agaggttggg aagaggcctg gacaggccca ggccttggag gaggcgggtg
     2101 atcttcctga agatccccag aaagttccag aagcagatgg tcagccagct gtccagcctg
     2161 caaaggagga cctggggcca ggagacaggg gcctgcatcc tcggccccag gcagtgctgt
     2221 ctgagcagca gaacggcctg gcggtgggtg gaggggaaaa ggccaagggg ggaccgccgc
     2281 caggcaacgc cgccggggac acagggcagc ccgcagagga cagcgaccac ggtgggaagc
     2341 ctcccctccc agcggagaag ccggctccag ggcctgggct gccgcccgag cctcgcgagc
     2401 agagggacgt ggagcgagcg ggtggaaacc aggcggccag ccagctggag gaagctggca
     2461 gggcggagat gctggaccac gccgtcctgc ttcaggtgat caaagaacag caggtgcagc
     2521 aaaagcgctt gctggaccag caggagaagc tgctggcggt gatcgaggag cagcacaagg
     2581 agatccacca gcagaggcag gaggacgagg aggataaacc caggcaggtg gaggtgcatc
     2641 aagagcccgg ggcagcggtg cccagaggcc aggaggcccc tgaaggcaag gccagggaga
     2701 cggtggagaa tctgcctccc ctgcctttgg accctgtcct cagagctcct gggggccgcc
     2761 ctgctccatc ccaggacctt aaccagcgct ccctggagca ctctgagggg cctgtgggca
     2821 gagaccctgc tggccctcct gacggcggcc ctgacacaga gcctcgggca gcccaggcca
     2881 agctgagaga tggccagaag gatgccgccc ccagggcagc tggcactgtg aaggagctcc
     2941 ccaagggccc ggagcaggtg cccgtgccag accccgccag ggaagccggg ggcccagagg
     3001 agcgcctcgc agaggaattc cctgggcaaa gtcaggacgt tactggcggt tcccaagaca
     3061 ggaaaaaacc tgggaaggag gtggcagcca ctggcaccag cattctgaag gaagccaact
     3121 ggctcgtggc agggccagga gcagagacgg gggaccctcg catgaagccc aagcaagtga
     3181 gccgagacct gggccttgca gcggacctgc ccggtggggc ggaaggagca gctgcacagc
     3241 cccaggctgt gttacgccag ccggaactgc gggtcatctc tgatggcgag cagggtggac
     3301 agcagggcca ccggctggac catggcggtc acctggagat gagaaaggcc cgcggggggg
     3361 accatgtgcc tgtgtcccac gagcagccga gaggcgggga ggacgctgct gtccaggagc
     3421 ccaggcagag gccagagcca gagctggggc tcaaacgagc tgtcccgggg ggccagaggc
     3481 cggacaatgc caagcccaac cgggacctga aactgcaggc tggctccgac ctccggaggc
     3541 gacggcggga ccttggccct catgcagagg gtcagctggc cccgagggat ggggtcatca
     3601 ttggccttaa ccccctgcct gatgtccagg tgaacgacct ccgtggcgcc ctggatgccc
     3661 agctccgcca ggctgcgggg ggagctctgc aggtggtcca cagccggcag cttagacagg
     3721 cgcctgggcc tccagaggag tcctagcacc tgctggccat gagggccacg ccagccactg
     3781 ccctcctcgg ccagcagcag gtctgtctca gccgcatccc agccaaactc tggaggtcac
     3841 actcgcctct ccccagggtt tcatgtctga ggccctcacc aagtgtgagt gacagtataa
     3901 aagattcact gtggcatcgt ttccagaatg ttcttgctgt cgttctgttg cagctcttag
     3961 tctgaggtcc tctgacctct agactctgag ctcactccag cctgtgagga gaaacggcct
     4021 ccgctgcgag ctggctggtg cactcccagg ctcaggctgg ggagctgctg cgtctgtggt
     4081 caggcctcct gctcctgcca gggagcacgc gtggtcttcg ggttgagctc ggccgtgcgt
     4141 ggaggtgcgc atggctgctc atggtcccaa cacaggctac tgtgagagcc agcatccaac
     4201 cccacgcttg cagtgactca gaatgataat tattatgact gtttatcgat gcttcccaca
     4261 gtgtggtaga aagtcttgaa taaacacttt tgccttcacc cagcctcggt ggatgctgtt
     4321 tggtgtccag gaagcacagg gagcaggggc cagacaagcc gggtgtccag gggcactggc
     4381 cggtgccgcc ctttgcactc ctcatggttg gcccagccct ccattgtctg tgtttttcaa
     4441 aatccaattg tggctttttt taaaaagtaa aaaacaccac tgataacctg a
//
LOCUS       NM_001038               3149 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens sodium channel epithelial 1 subunit alpha (SCNN1A),
            transcript variant 1, mRNA.
ACCESSION   NM_001038
VERSION     NM_001038.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3149)
  AUTHORS   Efthymiadou A, Gautschi I, van Bemmelen MX, Sertedaki A,
            Giannakopoulos A, Chrousos G, Schild L and Chrysis D.
  TITLE     A mild and transient form of autosomal recessive
            pseudohypoaldosteronism type 1 caused by a novel mutation in the
            SCNN1A gene
  JOURNAL   Am J Physiol Endocrinol Metab 325 (1), E1-E9 (2023)
   PUBMED   37134141
  REMARK    GeneRIF: A mild and transient form of autosomal recessive
            pseudohypoaldosteronism type 1 caused by a novel mutation in the
            SCNN1A gene.
REFERENCE   2  (bases 1 to 3149)
  AUTHORS   Blobner BM, Kirabo A, Kashlan OB, Sheng S, Arnett DK, Becker LC,
            Boerwinkle E, Carlson JC, Gao Y, Gibbs RA, He J, Irvin MR, Kardia
            SLR, Kelly TN, Kooperberg C, McGarvey ST, Menon VK, Montasser ME,
            Naseri T, Redline S, Reiner AP, Reupena MS, Smith JA, Sun X, Vaidya
            D, Viaud-Martinez KA, Weeks DE, Yanek LR, Zhu X, Minster RL and
            Kleyman TR.
  CONSRTM   NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium*
  TITLE     Rare Variants in Genes Encoding Subunits of the Epithelial Na+
            Channel Are Associated With Blood Pressure and Kidney Function
  JOURNAL   Hypertension 79 (11), 2573-2582 (2022)
   PUBMED   36193739
  REMARK    GeneRIF: Rare Variants in Genes Encoding Subunits of the Epithelial
            Na[+] Channel Are Associated With Blood Pressure and Kidney
            Function.
REFERENCE   3  (bases 1 to 3149)
  AUTHORS   Gao F, Wang D, Liu X, Wu YH, Wang HT and Sun SL.
  TITLE     Sodium channel 1 subunit alpha SCNN1A exerts oncogenic function in
            pancreatic cancer via accelerating cellular growth and metastasis
  JOURNAL   Arch Biochem Biophys 727, 109323 (2022)
   PUBMED   35714697
  REMARK    GeneRIF: Sodium channel 1 subunit alpha SCNN1A exerts oncogenic
            function in pancreatic cancer via accelerating cellular growth and
            metastasis.
REFERENCE   4  (bases 1 to 3149)
  AUTHORS   Cai C, Zhang Y and Peng X.
  TITLE     Knocking down Sterol regulatory element binding protein 2 (SREBF2)
            inhibits the Serine Protease 8 (PRSS8) /sodium channel epithelial
            1alpha subunit (SCNN1A) axis to reduce the cell proliferation,
            migration and epithelial-mesenchymal transformation of ovarian
            cancer
  JOURNAL   Bioengineered 12 (2), 9390-9400 (2021)
   PUBMED   34823420
  REMARK    GeneRIF: Knocking down Sterol regulatory element binding protein 2
            (SREBF2) inhibits the Serine Protease 8 (PRSS8) /sodium channel
            epithelial 1alpha subunit (SCNN1A) axis to reduce the cell
            proliferation, migration and epithelial-mesenchymal transformation
            of ovarian cancer.
REFERENCE   5  (bases 1 to 3149)
  AUTHORS   Chang J, Hu X, Nan J, Zhang X and Jin X.
  TITLE     HOXD9-induced SCNN1A upregulation promotes pancreatic cancer cell
            proliferation, migration and predicts prognosis by regulating
            epithelial-mesenchymal transformation
  JOURNAL   Mol Med Rep 24 (5) (2021)
   PUBMED   34558641
  REMARK    GeneRIF: HOXD9induced SCNN1A upregulation promotes pancreatic cancer
            cell proliferation, migration and predicts prognosis by regulating
            epithelialmesenchymal transformation.
REFERENCE   6  (bases 1 to 3149)
  AUTHORS   Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B,
            Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L,
            Balascakova M, Hjelte L, Lebecque P, Radojkovic D, Castellani C,
            Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I,
            Girodon E, Ferec C, Claustres M, Tummler B, Cassiman JJ, Korbmacher
            C and Cuppens H.
  TITLE     Mutations in the amiloride-sensitive epithelial sodium channel in
            patients with cystic fibrosis-like disease
  JOURNAL   Hum Mutat 30 (7), 1093-1103 (2009)
   PUBMED   19462466
  REMARK    GeneRIF: a more than three-fold significant increase in incidence of
            several rare ENaC polymorphisms was found in the patient group (30%
            vs. 9% in controls), indicating an involvement of ENaC in some
            patients by a polygenetic mechanism.
REFERENCE   7  (bases 1 to 3149)
  AUTHORS   Chang SS, Grunder S, Hanukoglu A, Rosler A, Mathew PM, Hanukoglu I,
            Schild L, Lu Y, Shimkets RA, Nelson-Williams C, Rossier BC and
            Lifton RP.
  TITLE     Mutations in subunits of the epithelial sodium channel cause salt
            wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
  JOURNAL   Nat Genet 12 (3), 248-253 (1996)
   PUBMED   8589714
REFERENCE   8  (bases 1 to 3149)
  AUTHORS   Meisler MH, Barrow LL, Canessa CM and Rossier BC.
  TITLE     SCNN1, an epithelial cell sodium channel gene in the conserved
            linkage group on mouse chromosome 6 and human chromosome 12
  JOURNAL   Genomics 24 (1), 185-186 (1994)
   PUBMED   7896277
REFERENCE   9  (bases 1 to 3149)
  AUTHORS   McDonald FJ, Snyder PM, McCray PB Jr and Welsh MJ.
  TITLE     Cloning, expression, and tissue distribution of a human
            amiloride-sensitive Na+ channel
  JOURNAL   Am J Physiol 266 (6 Pt 1), L728-L734 (1994)
   PUBMED   8023962
REFERENCE   10  (bases 1 to 3149)
  AUTHORS   Voilley N, Lingueglia E, Champigny G, Mattei MG, Waldmann R,
            Lazdunski M and Barbry P.
  TITLE     The lung amiloride-sensitive Na+ channel: biophysical properties,
            pharmacology, ontogenesis, and molecular cloning
  JOURNAL   Proc Natl Acad Sci U S A 91 (1), 247-251 (1994)
   PUBMED   8278374
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X76180.1, SRR11853564.6196.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000228916.7/ ENSP00000228916.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB232484.1 and X76180.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001038.5.
            Summary: Nonvoltage-gated, amiloride-sensitive, sodium channels
            control fluid and electrolyte transport across epithelia in many
            organs. These channels are heteromeric complexes consisting of 3
            subunits: alpha, beta, and gamma. This gene encodes the alpha
            subunit, and mutations in this gene have been associated with
            pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease
            resulting from target organ unresponsiveness to mineralocorticoids.
            Alternatively spliced transcript variants encoding different
            isoforms have been described for this gene. [provided by RefSeq,
            Apr 2009].
            Transcript Variant: This variant (1, also known as alpha-ENaC1)
            represents the predominant transcript, and encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3149
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..3149
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /note="sodium channel epithelial 1 subunit alpha"
                     /db_xref="GeneID:6337"
                     /db_xref="HGNC:HGNC:10599"
                     /db_xref="MIM:600228"
     CDS             114..2123
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /note="isoform 1 is encoded by transcript variant 1; nasal
                     epithelial sodium channel alpha subunit;
                     amiloride-sensitive sodium channel subunit alpha 2; sodium
                     channel epithelial 1 alpha subunit; alpha ENaC-2;
                     amiloride-sensitive epithelial sodium channel alpha
                     subunit; alpha-ENaC; alpha-NaCH; epithelial Na(+) channel
                     subunit alpha; nonvoltage-gated sodium channel 1 subunit
                     alpha; sodium channel, nonvoltage-gated 1 alpha; sodium
                     channel, non voltage gated 1 alpha subunit; sodium channel,
                     non-voltage-gated 1 alpha"
                     /codon_start=1
                     /product="amiloride-sensitive sodium channel subunit alpha
                     isoform 1"
                     /protein_id="NP_001029.1"
                     /db_xref="CCDS:CCDS8543.1"
                     /db_xref="GeneID:6337"
                     /db_xref="HGNC:HGNC:10599"
                     /db_xref="MIM:600228"
                     /translation="MEGNKLEEQDSSPPQSTPGLMKGNKREEQGLGPEPAAPQQPTAEE
                     EALIEFHRSYRELFEFFCNNTTIHGAIRLVCSQHNRMKTAFWAVLWLCTFGMMYWQFGL
                     LFGEYFSYPVSLNINLNSDKLVFPAVTICTLNPYRYPEIKEELEELDRITEQTLFDLYK
                     YSSFTTLVAGSRSRRDLRGTLPHPLQRLRVPPPPHGARRARSVASSLRDNNPQVDWKDW
                     KIGFQLCNQNKSDCFYQTYSSGVDAVREWYRFHYINILSRLPETLPSLEEDTLGNFIFA
                     CRFNQVSCNQANYSHFHHPMYGNCYTFNDKNNSNLWMSSMPGINNGLSLMLRAEQNDFI
                     PLLSTVTGARVMVHGQDEPAFMDDGGFNLRPGVETSISMRKETLDRLGGDYGDCTKNGS
                     DVPVENLYPSKYTQQVCIHSCFQESMIKECGCAYIFYPRPQNVEYCDYRKHSSWGYCYY
                     KLQVDFSSDHLGCFTKCRKPCSVTSYQLSAGYSRWPSVTSQEWVFQMLSRQNNYTVNNK
                     RNGVAKVNIFFKELNYKTNSESPSVTMVTLLSNLGSQWSLWFGSSVLSVVEMAELVFDL
                     LVIMFLMLLRRFRSRYWSPGRGGRGAQEVASTLASSPPSHFCPHPMSLSLSQPGPAPSP
                     ALTAPPPAYATLGPRPSPGGSAGASSSTCPLGGP"
     misc_feature    114..242
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /note="propagated from UniProtKB/Swiss-Prot (P37088.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    369..431
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /note="propagated from UniProtKB/Swiss-Prot (P37088.1);
                     transmembrane region"
     misc_feature    1800..1862
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /note="propagated from UniProtKB/Swiss-Prot (P37088.1);
                     transmembrane region"
     misc_feature    1971..2120
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /note="propagated from UniProtKB/Swiss-Prot (P37088.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3129..3134
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /note="hexamer: AATAAA"
     polyA_site      3149
                     /gene="SCNN1A"
                     /gene_synonym="BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1;
                     SCNEA; SCNN1"
                     /note="major polyA site"
ORIGIN
        1 gcttccatcc ctggccggcc agcgggcggg ctccccagcc aggccgctgc acctgtcagg
       61 ggaacaagct ggaggagcag gaccctagac ctctgcagcc cataccaggt ctcatggagg
      121 ggaacaagct ggaggagcag gactctagcc ctccacagtc cactccaggg ctcatgaagg
      181 ggaacaagcg tgaggagcag gggctgggcc ccgaacctgc ggcgccccag cagcccacgg
      241 cggaggagga ggccctgatc gagttccacc gctcctaccg agagctcttc gagttcttct
      301 gcaacaacac caccatccac ggcgccatcc gcctggtgtg ctcccagcac aaccgcatga
      361 agacggcctt ctgggcagtg ctgtggctct gcacctttgg catgatgtac tggcaattcg
      421 gcctgctttt cggagagtac ttcagctacc ccgtcagcct caacatcaac ctcaactcgg
      481 acaagctcgt cttccccgca gtgaccatct gcaccctcaa tccctacagg tacccggaaa
      541 ttaaagagga gctggaggag ctggaccgca tcacagagca gacgctcttt gacctgtaca
      601 aatacagctc cttcaccact ctcgtggccg gctcccgcag ccgtcgcgac ctgcggggga
      661 ctctgccgca ccccttgcag cgcctgaggg tcccgccccc gcctcacggg gcccgtcgag
      721 cccgtagcgt ggcctccagc ttgcgggaca acaaccccca ggtggactgg aaggactgga
      781 agatcggctt ccagctgtgc aaccagaaca aatcggactg cttctaccag acatactcat
      841 caggggtgga tgcggtgagg gagtggtacc gcttccacta catcaacatc ctgtcgaggc
      901 tgccagagac tctgccatcc ctggaggagg acacgctggg caacttcatc ttcgcctgcc
      961 gcttcaacca ggtctcctgc aaccaggcga attactctca cttccaccac ccgatgtatg
     1021 gaaactgcta tactttcaat gacaagaaca actccaacct ctggatgtct tccatgcctg
     1081 gaatcaacaa cggtctgtcc ctgatgctgc gcgcagagca gaatgacttc attcccctgc
     1141 tgtccacagt gactggggcc cgggtaatgg tgcacgggca ggatgaacct gcctttatgg
     1201 atgatggtgg ctttaacttg cggcctggcg tggagacctc catcagcatg aggaaggaaa
     1261 ccctggacag acttgggggc gattatggcg actgcaccaa gaatggcagt gatgttcctg
     1321 ttgagaacct ttacccttca aagtacacac agcaggtgtg tattcactcc tgcttccagg
     1381 agagcatgat caaggagtgt ggctgtgcct acatcttcta tccgcggccc cagaacgtgg
     1441 agtactgtga ctacagaaag cacagttcct gggggtactg ctactataag ctccaggttg
     1501 acttctcctc agaccacctg ggctgtttca ccaagtgccg gaagccatgc agcgtgacca
     1561 gctaccagct ctctgctggt tactcacgat ggccctcggt gacatcccag gaatgggtct
     1621 tccagatgct atcgcgacag aacaattaca ccgtcaacaa caagagaaat ggagtggcca
     1681 aagtcaacat cttcttcaag gagctgaact acaaaaccaa ttctgagtct ccctctgtca
     1741 cgatggtcac cctcctgtcc aacctgggca gccagtggag cctgtggttc ggctcctcgg
     1801 tgttgtctgt ggtggagatg gctgagctcg tctttgacct gctggtcatc atgttcctca
     1861 tgctgctccg aaggttccga agccgatact ggtctccagg ccgagggggc aggggtgctc
     1921 aggaggtagc ctccaccctg gcatcctccc ctccttccca cttctgcccc caccccatgt
     1981 ctctgtcctt gtcccagcca ggccctgctc cctctccagc cttgacagcc cctccccctg
     2041 cctatgccac cctgggcccc cgcccatctc cagggggctc tgcaggggcc agttcctcca
     2101 cctgtcctct gggggggccc tgagagggaa ggagaggttt ctcacaccaa ggcagatgct
     2161 cctctggtgg gagggtgctg gccctggcaa gattgaagga tgtgcagggc ttcctctcag
     2221 agccgcccaa actgccgttg atgtgtggag gggaagcaag atgggtaagg gctcaggaag
     2281 ttgctccaag aacagtagct gatgaagctg cccagaagtg ccttggctcc agccctgtac
     2341 cccttggtac tgcctctgaa cactctggtt tccccaccca actgcggcta agtctctttt
     2401 tcccttggat cagccaagcg aaacttggag ctttgacaag gaactttcct aagaaaccgc
     2461 tgataaccag gacaaaacac aaccaagggt acacgcaggc atgcacgggt ttcctgccca
     2521 gcgacggctt aagccagccc ccgactggcc tggccacact gctctccagt agcacagatg
     2581 tctgctcctc ctcttgaact tgggtgggaa accccaccca aaagccccct ttgttactta
     2641 ggcaattccc cttccctgac tcccgagggc tagggctaga gcagacccgg gtaagtaaag
     2701 gcagacccag ggctcctcta gcctcatacc cgtgccctca cagagccatg ccccggcacc
     2761 tctgccctgt gtctttcata cctctacatg tctgcttgag atatttcctc agcctgaaag
     2821 tttccccaac catctgccag agaactccta tgcatccctt agaaccctgc tcagacacca
     2881 ttacttttgt gaacgcttct gccacatctt gtcttcccca aaattgatca ctccgccttc
     2941 tcctgggctc ccgtagcaca ctataacatc tgctggagtg ttgctgttgc accatacttt
     3001 cttgtacatt tgtgtctccc ttcccaacta gactgtaagt gccttgcggt cagggactga
     3061 atcttgcccg tttatgtatg ctccatgtct agcccatcat cctgcttgga gcaagtaggc
     3121 aggagctcaa taaatgtttg ttgcatgaa
//
LOCUS       NM_001038603            4423 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript
            variant 1, mRNA.
ACCESSION   NM_001038603
VERSION     NM_001038603.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4423)
  AUTHORS   Han W, Jin M, Liu C, Zhao Q, Wang S, Wang Y, Yin Y, Peng C, Wang Y
            and Cong Y.
  TITLE     Structural basis of plp2-mediated cytoskeletal protein folding by
            TRiC/CCT
  JOURNAL   Sci Adv 9 (11), eade1207 (2023)
   PUBMED   36921056
  REMARK    GeneRIF: Structural basis of plp2-mediated cytoskeletal protein
            folding by TRiC/CCT.
REFERENCE   2  (bases 1 to 4423)
  AUTHORS   He Y and Li DZ.
  TITLE     Co-occurrence of two rare genetic diseases: A potential pitfall for
            prenatal diagnosis in successive pregnancies
  JOURNAL   Prenat Diagn 40 (12), 1606-1609 (2020)
   PUBMED   33015857
  REMARK    GeneRIF: Co-occurrence of two rare genetic diseases: A potential
            pitfall for prenatal diagnosis in successive pregnancies.
REFERENCE   3  (bases 1 to 4423)
  AUTHORS   Zhang JX, Qin MB, Ye Z, Peng P, Li SM, Song Q, Lin L, Liu SQ, Xie
            LH, Zhu Y and Huang JA.
  TITLE     Association of tricellulin expression with poor colorectal cancer
            prognosis and metastasis
  JOURNAL   Oncol Rep 44 (5), 2174-2184 (2020)
   PUBMED   33000262
  REMARK    GeneRIF: Association of tricellulin expression with poor colorectal
            cancer prognosis and metastasis.
REFERENCE   4  (bases 1 to 4423)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 4423)
  AUTHORS   Taghipour-Sheshdeh A, Nemati-Zargaran F, Zarepour N, Tahmasebi P,
            Saki N, Tabatabaiefar MA, Mohammadi-Asl J and
            Hashemzadeh-Chaleshtori M.
  TITLE     A novel pathogenic variant in the MARVELD2 gene causes autosomal
            recessive non-syndromic hearing loss in an Iranian family
  JOURNAL   Genomics 111 (4), 840-848 (2019)
   PUBMED   29752989
  REMARK    GeneRIF: Recessive insertion variant in the MARVELD2 segregates with
            non-syndromic hearing loss in an Iranian family.
REFERENCE   6  (bases 1 to 4423)
  AUTHORS   Ikenouchi J, Furuse M, Furuse K, Sasaki H, Tsukita S and Tsukita S.
  TITLE     Tricellulin constitutes a novel barrier at tricellular contacts of
            epithelial cells
  JOURNAL   J Cell Biol 171 (6), 939-945 (2005)
   PUBMED   16365161
REFERENCE   7  (bases 1 to 4423)
  AUTHORS   Zhang Y, Wolf-Yadlin A, Ross PL, Pappin DJ, Rush J, Lauffenburger DA
            and White FM.
  TITLE     Time-resolved mass spectrometry of tyrosine phosphorylation sites in
            the epidermal growth factor receptor signaling network reveals
            dynamic modules
  JOURNAL   Mol Cell Proteomics 4 (9), 1240-1250 (2005)
   PUBMED   15951569
REFERENCE   8  (bases 1 to 4423)
  AUTHORS   Ramzan K, Shaikh RS, Ahmad J, Khan SN, Riazuddin S, Ahmed ZM,
            Friedman TB, Wilcox ER and Riazuddin S.
  TITLE     A new locus for nonsyndromic deafness DFNB49 maps to chromosome
            5q12.3-q14.1
  JOURNAL   Hum Genet 116 (1-2), 17-22 (2005)
   PUBMED   15538632
  REMARK    GeneRIF: Maps to 5q12.3-q14.1.
REFERENCE   9  (bases 1 to 4423)
  AUTHORS   Gubin AN, Njoroge JM, Bouffard GG and Miller JL.
  TITLE     Gene expression in proliferating human erythroid cells
  JOURNAL   Genomics 59 (2), 168-177 (1999)
   PUBMED   10409428
REFERENCE   10  (bases 1 to 4423)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Schaefer,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301607
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.143266.1, BC033689.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000325631.10/ ENSP00000323264.5
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG943115.1, BC033689.1,
            AK292962.1 and AC145146.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001038603.2.
            Summary: The protein encoded by this gene is a membrane protein
            found at the tight junctions between epithelial cells. The encoded
            protein helps establish epithelial barriers such as those in the
            organ of Corti, where these barriers are required for normal
            hearing. Defects in this gene are a cause of deafness autosomal
            recessive type 49 (DFNB49). Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Sep 2011].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4423
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..4423
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="MARVEL domain containing 2"
                     /db_xref="GeneID:153562"
                     /db_xref="HGNC:HGNC:26401"
                     /db_xref="MIM:610572"
     misc_feature    59..61
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="upstream in-frame stop codon"
     CDS             71..1747
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="isoform 1 is encoded by transcript variant 1;
                     tricellulin; MARVEL (membrane-associating) domain
                     containing 2; MARVEL domain-containing protein 2"
                     /codon_start=1
                     /product="MARVEL domain-containing protein 2 isoform 1"
                     /protein_id="NP_001033692.2"
                     /db_xref="CCDS:CCDS34175.1"
                     /db_xref="GeneID:153562"
                     /db_xref="HGNC:HGNC:26401"
                     /db_xref="MIM:610572"
                     /translation="MSNDGRSRNRDRRYDEVPSDLPYQDTTIRTHPTLHDSERAVSADP
                     LPPPPLPLQPPFGPDFYSSDTEEPAIAPDLKPVRRFVPDSWKNFFRGKKKDPEWDKPVS
                     DIRYISDGVECSPPASPARPNHRSPLNSCKDPYGGSEGTFSSRKEADAVFPRDPYGSLD
                     RHTQTVRTYSEKVEEYNLRYSYMKSWAGLLRILGVVELLLGAGVFACVTAYIHKDSEWY
                     NLFGYSQPYGMGGVGGLGSMYGGYYYTGPKTPFVLVVAGLAWITTIIILVLGMSMYYRT
                     ILLDSNWWPLTEFGINVALFILYMAAAIVYVNDTNRGGLCYYPLFNTPVNAVFCRVEGG
                     QIAAMIFLFVTMIVYLISALVCLKLWRHEAARRHREYMEQQEINEPSLSSKRKMCEMAT
                     SGDRQRDSEVNFKELRTAKMKPELLSGHIPPGHIPKPIVMPDYVAKYPVIQTDDERERY
                     KAVFQDQFSEYKELSAEVQAVLRKFDELDAVMSRLPHHSESRQEHERISRIHEEFKKKK
                     NDPTFLEKKERCDYLKNKLSHIKQRIQEYDKVMNWDVQGYS"
     misc_feature    71..244
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4S9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    413..505
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4S9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    416..418
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8N4S9.2); phosphorylation site"
     misc_feature    428..430
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8N4S9.2); phosphorylation site"
     misc_feature    551..553
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N4S9.2); phosphorylation site"
     misc_feature    566..568
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N4S9.2); phosphorylation site"
     misc_feature    653..715
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4S9.2);
                     transmembrane region"
     misc_feature    740..802
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4S9.2);
                     transmembrane region"
     misc_feature    833..895
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4S9.2);
                     transmembrane region"
     misc_feature    944..1006
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4S9.2);
                     transmembrane region"
     misc_feature    1028..1081
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4S9.2);
                     transmembrane region"
     misc_feature    1094..1156
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4S9.2);
                     transmembrane region"
     misc_feature    1229..1231
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N4S9.2); phosphorylation site"
     regulatory      4285..4290
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="hexamer: ATTAAA"
     polyA_site      4305
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="major polyA site"
     regulatory      4394..4399
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="hexamer: AATAAA"
     polyA_site      4423
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
ORIGIN
        1 gataccggtt tcagagtcct gggcagcgtg cgcgctcttc ctggcggctg cgcaggtgtg
       61 aaaatcacaa atgtcaaatg atggaagatc caggaatcgg gacaggcgct acgatgaggt
      121 cccaagcgac ctgccctatc aagataccac cataagaacc cacccaactc ttcatgacag
      181 tgagcgggca gtgagcgctg atcccttgcc accaccccct ctcccattac agccaccatt
      241 cggcccagac ttctactcaa gtgacacaga agaaccagct atagcgccag atctcaaacc
      301 agtaaggcgc tttgtccctg actcctggaa gaactttttc agagggaaga aaaaggaccc
      361 cgaatgggat aagccggtgt ctgatatcag gtacatctcc gatggagtgg agtgttcacc
      421 accagcctct ccagcaagac caaaccaccg ttcgcccctc aactcctgca aagatcccta
      481 cggagggtca gaaggaacct ttagttcccg gaaagaggct gacgcagtgt ttccccggga
      541 tccctatgga tctctagacc gacacacaca aacagttcga acatacagtg agaaggtgga
      601 ggagtataac ctgagatact cctacatgaa gtcgtgggca ggcctgctga gaatactggg
      661 tgtggtggag ctgcttttgg gggccggtgt ctttgcttgt gtcacagctt acattcacaa
      721 ggacagtgag tggtacaact tgtttggata ttcacaaccg tatggcatgg gaggcgttgg
      781 tggattgggc agtatgtatg ggggctatta ctacactggc cctaagaccc cttttgtact
      841 cgtggttgct ggattagctt ggatcaccac cattattatt ctggttcttg gcatgtccat
      901 gtattaccgg accattcttc tggactctaa ttggtggccc ctaactgaat ttggaattaa
      961 cgttgccttg tttattttgt atatggccgc agccatagtc tatgtgaatg ataccaaccg
     1021 aggtggcctc tgctactatc cgttatttaa tacaccagtg aatgcagtgt tctgccgggt
     1081 agaaggagga cagatagctg caatgatctt cctgtttgtc accatgatag tttatctcat
     1141 tagtgctttg gtttgcctaa agttatggag gcatgaggca gctcggagac atagagaata
     1201 tatggaacaa caggagataa atgagccatc attgtcatcg aaaaggaaaa tgtgtgaaat
     1261 ggccaccagt ggtgacagac aaagagactc agaagttaat ttcaaggaac tgagaacagc
     1321 aaaaatgaaa cctgaactac tgagtggaca catcccccca ggccacattc ctaaacctat
     1381 cgtgatgccc gactatgtgg caaaataccc tgtgattcag acagatgatg agcgagaacg
     1441 ctataaagct gtgttccaag accagttttc agagtacaaa gagctgtctg cagaagttca
     1501 ggctgtcctg aggaagtttg atgagctgga tgcagtgatg agcagattgc cacatcattc
     1561 ggaaagccga caggaacatg agagaatttc aagaatccat gaagagttta agaaaaaaaa
     1621 gaatgatcct acatttctgg aaaaaaaaga acgctgtgat tacctaaaga ataaactttc
     1681 tcacataaag caaagaattc aagaatatga taaagtaatg aattgggatg tacaaggtta
     1741 ttcttaacgc ttatttgaaa ccactttatt tttttatttt attttatttt tttgagatga
     1801 agtctcgctc tgttacccag gctggaatgc agtggcacaa tctcggctca ctgcaacctc
     1861 cacctcccgg gttcaagcaa ttctcctgtt caagcaatta gcctccccag tagctgggat
     1921 tacaggcgtg cgctgccaca ccccgctaat ttttgtattt ttagtagaga cgaggtttca
     1981 ccatgttggt caggctggga aactactttt tttaaaaaat agcaagttta ctatttattt
     2041 actgcctttt taatgctagc ctctgtggta gagaagcaag cgcttcccaa atcagcttcc
     2101 aattggttta accagtatgc aacattaaag attttactca gacattttta aacgaattca
     2161 aatgttctaa gggcctttac taagaatgga aaaaatcctg tgttcatctt tcatctgtga
     2221 ccaatttcat attcatctat ctcatttaaa tgtgtcatca ttttagagat cgtatcctgg
     2281 cagtgtgatg ggcaagtgga ccatcaattc tggtgctact ttttcctttt ttactcaggc
     2341 aggttcctag gatttttctg ggacaaattt ctcttcctag agaaattcct aggggatttc
     2401 taaaggattt ttctaaggga aaaagggtga catctttcaa aggtgtcatt tattcccttg
     2461 aaaggtgttt gaatcccaga tcaacatttt cagacatcct gatcttgggc aaattgctta
     2521 atctctctgt gcctgtttcc tcttctgtaa aatggggcta ataatagttc cttcctcata
     2581 gagttgttag gattaaagga gttactaata tggtaggaac tatattagtg tttgtgaagt
     2641 ctactgaagt gtttgtgaaa tgaataaatt ataaagaatg agtctcaaga aaaggtcctt
     2701 aatgagcaag cccaacctac ttaaccaaaa gcccaagtgt ctggtgcctt tctggtttgt
     2761 ggtgttaact catggcctta gcctggtgct tcactgtggc tctgtggccc ctggggttcc
     2821 acatggcctc cctgtctttc atcagtgtga ctgtacatct ctccatctcc ccatagtcca
     2881 gcctgccctg gacacattga attgtatgaa tggtattgct tttttttttt tttttttgtg
     2941 agacagagtc ttactctgtt gcccagactg gagtgcagtg gtgcgatctc ggctcactgc
     3001 aagctccgcc tcccaagttc acgtcatttt cctgcctcag cctcccgagt agctgggact
     3061 acaggcacct gccaccacgc ccagctaatt tttttgtatt tttagtagag atggggtttc
     3121 accgtgttag ccaggatgat ctcgatctcc tgacctcatg atccacccgc ctcagcctcc
     3181 caaagtgttg ggattacagg cgtgagtcac cgcgcccagc tggtattgct tttctattcc
     3241 ctttggacat acatgctaca gtcccacaat gtagcatttc cttggaaact cccttttttt
     3301 ttttttttga gatggagttt cgctcttgtt gcccaggctg gagtacagtg gtatgatctt
     3361 ggctcactgc agcctctgcc tcctgggttc aagcgattct cctgcctctg cctcccaagt
     3421 agctgggatt acaggcaccc accaccatgc ccagctaatt ttttgtattt ttagtagaga
     3481 caggatttca ctatgttggc caggttggtc tcaagctcct gacctcagat gatctaccag
     3541 cctcggcctt ctgaagtgct gggattcagg tgtgagccac tgtgcccagc agggatgctt
     3601 catctttcta agaattatct tggctttgga ctttattcat aaatgtttta tttctgttag
     3661 tatgaacaat agactgcctt aacaaagttt ttttttaaac aaaatcgttc ttgttggatt
     3721 ttattcagca gcatctatca tgtagataaa ttcccaggtg tagcattaca gcttctgact
     3781 aatatagctg ccattcagac aattaatgtt caaagagttt tctaaagtga taaaaccaaa
     3841 gaaaagcatg tggaaaagca gaagcttaga aagttgtggt cactgaatgc actccctggt
     3901 ttttatttgt cagtgaaatc tttatgcatt cattgttaat attttaattc catggctttg
     3961 taggctgtgc tgtgtctgaa ggggtaacac ctagggaaac atgaggcccc ttatgggacc
     4021 ccccaaatgg aacaacttca ctttctcttt tatgtattga gccctgtgtt aacatttcac
     4081 ttaagaagag caccagtgct ttaaaaaaaa aaaaaggtaa aatattacca ttttgataga
     4141 ctgtaaagag ttagattcct gttgaagtgt taaggaaatt taactttgtg aaacttttaa
     4201 aataaagttt ataaatgtag ctaatctttg aaaaaccaat gcagtaacac tgatttgtaa
     4261 atgttgtggt caatccctag gtgcattaaa gtttcagtca cctgccgtgt gtgtgtgtgc
     4321 ccttttatgt ttgccttcct agcattcctg tgttcactgt gcatgttctt gaaaatattt
     4381 tcacttgtca gaaaataaac tggaaagtca ttgaaaaccc gta
//
LOCUS       NM_001038640            3176 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens golgin A6 family member A (GOLGA6A), mRNA.
ACCESSION   NM_001038640
VERSION     NM_001038640.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3176)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3176)
  AUTHORS   Ventura M, Mudge JM, Palumbo V, Burn S, Blennow E, Pierluigi M,
            Giorda R, Zuffardi O, Archidiacono N, Jackson MS and Rocchi M.
  TITLE     Neocentromeres in 15q24-26 map to duplicons which flanked an
            ancestral centromere in 15q25
  JOURNAL   Genome Res 13 (9), 2059-2068 (2003)
   PUBMED   12915487
REFERENCE   3  (bases 1 to 3176)
  AUTHORS   Pujana MA, Nadal M, Guitart M, Armengol L, Gratacos M and Estivill
            X.
  TITLE     Human chromosome 15q11-q14 regions of rearrangements contain
            clusters of LCR15 duplicons
  JOURNAL   Eur J Hum Genet 10 (1), 26-35 (2002)
   PUBMED   11896453
REFERENCE   4  (bases 1 to 3176)
  AUTHORS   Gratacos M, Nadal M, Martin-Santos R, Pujana MA, Gago J, Peral B,
            Armengol L, Ponsa I, Miro R, Bulbena A and Estivill X.
  TITLE     A polymorphic genomic duplication on human chromosome 15 is a
            susceptibility factor for panic and phobic disorders
  JOURNAL   Cell 106 (3), 367-379 (2001)
   PUBMED   11509185
REFERENCE   5  (bases 1 to 3176)
  AUTHORS   Pujana MA, Nadal M, Gratacos M, Peral B, Csiszar K,
            Gonzalez-Sarmiento R, Sumoy L and Estivill X.
  TITLE     Additional complexity on human chromosome 15q: identification of a
            set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and
            15q26
  JOURNAL   Genome Res 11 (1), 98-111 (2001)
   PUBMED   11156619
REFERENCE   6  (bases 1 to 3176)
  AUTHORS   Gilles F, Goy A, Remache Y, Manova K and Zelenetz AD.
  TITLE     Cloning and characterization of a Golgin-related gene from the
            large-scale polymorphism linked to the PML gene
  JOURNAL   Genomics 70 (3), 364-374 (2000)
   PUBMED   11161787
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK292574.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA1968832
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000290438.3/ ENSP00000290438.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF263742.1, BC131515.1 and AC013486.12.
            On Apr 27, 2007 this sequence version replaced NM_001038640.1.
            Summary: The Golgi apparatus, which participates in glycosylation
            and transport of proteins and lipids in the secretory pathway,
            consists of a series of stacked cisternae (flattened membrane
            sacs). Interactions between the Golgi and microtubules are thought
            to be important for the reorganization of the Golgi after it
            fragments during mitosis. The protein encoded by this gene is a
            member of the golgin family of proteins, whose members localize to
            the Golgi. This gene is found in a large, low copy repeat sequence
            or duplicon that is found in multiple copies, that are greather
            than 90% similar, on chromosome 15. Duplicons are associated with
            deletions, inversions and other chromosome rearrangements that
            underlie genomic disease. The protein encoded by this gene is
            thought to be a functional golgin protein while the majority of the
            related copies of this gene are thought to be transcribed
            pseudogenes. [provided by RefSeq, Jul 2008].
FEATURES             Location/Qualifiers
     source          1..3176
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     gene            1..3176
                     /gene="GOLGA6A"
                     /gene_synonym="GLP; GOLGA6"
                     /note="golgin A6 family member A"
                     /db_xref="GeneID:342096"
                     /db_xref="HGNC:HGNC:13567"
                     /db_xref="MIM:610288"
     CDS             42..2123
                     /gene="GOLGA6A"
                     /gene_synonym="GLP; GOLGA6"
                     /note="golgi autoantigen, golgin subfamily a, 6A; Golgin
                     linked to PML; golgi autoantigen, golgin subfamily a,
                     member 6; golgin-like protein"
                     /codon_start=1
                     /product="golgin subfamily A member 6A"
                     /protein_id="NP_001033729.2"
                     /db_xref="CCDS:CCDS32290.1"
                     /db_xref="GeneID:342096"
                     /db_xref="HGNC:HGNC:13567"
                     /db_xref="MIM:610288"
                     /translation="MWPQPYLPPHPMMLEESRQNKLAAAKKKLKEYQQRKSPGIPAGAK
                     TKKKKTDSSPETTTSGGCHSPGDSQYQELAVALESSSVTISQLNENIESLKQQKKQVEH
                     QLEEAKKTNNEIHKAQMERLETINILTLEKADLKTTLYHTKRAARHFEEESKDLAGRLQ
                     YSLQRIQELERALCAVSTQQQEEDRSSSCREAVLQRWLQQTIKERALLNAHVTQVTESL
                     KQVQLERDEYAKHIKGERARWQERMWKMSVEARTLKEEKKRDIHRIQELERSLSELKNQ
                     MAEPPSLAPPAVTSVVEQLQDEAKHLRQEVEGLEGKLQSQVENNQALSLLSKEQKQRLQ
                     EQEEMLREQEAQRVREQERLCEQNERLREQQKTLQEQGERLRKQEQRLRKQEERLRKEE
                     ERLQKQEKRLWDQEERLWKKEERLQKQEERLALSQNHKLDKQLAEPQCSFEDLNNEKKS
                     ALQLEQQVKELQEKLDEEHLEAASHQNQQLETQLSLVALPGEGDGGQHLDSEEEEAPRP
                     TPNIPEDLESREATSSFMDLPKEKADGTEQVERRELGFVQPSGVTDGMRESFTVYESQG
                     AVPNTRHQEMEDVIRLAQKEEEMKVKLLELQELVLPLVGNHEGHGKFLIAAQNPADEPT
                     PGAPAPQELGAAGEQDVFYEVSLDNNVEPAPGAAREGSPHDNPTVQQIVQLSPVMQDT"
     misc_feature    99..248
                     /gene="GOLGA6A"
                     /gene_synonym="GLP; GOLGA6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYA3.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1530..1682
                     /gene="GOLGA6A"
                     /gene_synonym="GLP; GOLGA6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYA3.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2022..2120
                     /gene="GOLGA6A"
                     /gene_synonym="GLP; GOLGA6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NYA3.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 agtcacacag cagccttgta ggtgactgga ggtgttcgct gatgtggccc caaccctacc
       61 tccctcccca ccccatgatg ttagaagaat ctcgacagaa taaattggca gcagccaaga
      121 aaaagctaaa agaatatcag caaaggaaga gccctggtat tccagcagga gcaaagacaa
      181 aaaagaaaaa aactgacagt agccctgaga caaccacttc cggtggttgc cactcacctg
      241 gggatagcca gtaccaagaa ctagcagtag ccctggagtc aagctcagtg acaatcagtc
      301 aactcaatga aaacatagaa tcattgaaac agcagaagaa acaagtggaa catcagctgg
      361 aagaagcaaa gaaaacaaac aatgaaatac acaaagcaca aatggagcgg ttagagacaa
      421 tcaacatcct cacattggaa aaggcagact tgaagaccac cctttaccat actaaacgtg
      481 ctgcccgaca cttcgaagaa gagtccaagg atctggctgg ccgcctgcaa tactccttac
      541 agcgtattca agaattggag cgggctctct gtgctgtgtc tacacagcag caggaagagg
      601 acaggtcctc gagctgcaga gaagcggtcc tccagcggtg gttacagcag accataaagg
      661 agcgggcgct gctgaacgca cacgtgacac aggtgacaga gtcactaaaa caagtccagc
      721 tagagcgaga cgaatatgct aaacacataa aaggagagag ggcccggtgg caggagagga
      781 tgtggaaaat gtcggtggag gctcgaacat tgaaggaaga gaagaagcgt gacatacatc
      841 ggatacagga gctggagagg agcttgtccg aactcaaaaa ccagatggct gagcccccat
      901 ccctggcgcc cccagcagtg acctctgtgg tggaacagct acaagatgag gccaaacacc
      961 tgaggcagga ggtggaaggt ctggagggaa agctccagtc ccaggtggaa aacaatcagg
     1021 ccttgagtct ccttagcaag gaacaaaagc agagactcca ggagcaggag gagatgctcc
     1081 gagagcagga ggcgcagaga gtgcgggagc aggagagact gtgtgaacaa aacgagaggc
     1141 ttcgggagca gcagaagacg ctacaggagc agggtgagag gctgcgaaag caggagcaga
     1201 ggctacgcaa acaggaggag aggctgcgaa aggaggagga gaggctgcaa aagcaggaaa
     1261 agaggctgtg ggaccaggag gagaggctgt ggaagaagga ggagaggcta caaaagcagg
     1321 aggagaggct cgcgctctcc cagaaccaca agctcgacaa gcagctggcc gagccacagt
     1381 gcagcttcga ggatctgaac aacgagaaaa agagcgcact gcagttggag cagcaagtaa
     1441 aggagctgca ggagaagcta gacgaggagc acctagaagc tgccagccac cagaaccaac
     1501 agctagagac ccagctaagc ctcgtggctc tccctggaga aggagatgga ggacaacatc
     1561 tggacagtga ggaggaggag gcgcctcggc ccacgccaaa catcccagag gacctggaga
     1621 gccgggaggc cacgagcagc tttatggacc tcccgaagga gaaggcggac gggacggagc
     1681 aggtggagag acgagagctt ggattcgtcc agccttctgg agtgacagac ggcatgagag
     1741 agtccttcac cgtatatgaa agccaggggg cagtgccaaa cacgcggcac caggagatgg
     1801 aggatgtcat caggctggcc cagaaggagg aggagatgaa ggtgaagctg ctggagctgc
     1861 aagagttggt gttgcccctt gtgggcaacc atgaggggca tggcaaattc ctcatcgctg
     1921 cccagaaccc tgctgatgag cccactccag gggccccagc cccccaggaa cttggggctg
     1981 ccggtgagca ggatgttttt tatgaagtga gcctggacaa caacgtggag cctgcaccag
     2041 gagcggccag ggagggttct ccccatgaca accccactgt acagcagatc gtgcagctgt
     2101 ctcctgtcat gcaggacacc taggagcacc caggcttgcc cagcaaaccc tgcgtgccat
     2161 tcttctacca ggcagccgag aacagggaga taaacatcat catcttctaa gagctggtca
     2221 agaaatttaa aacaacaaca acaacaaaaa gttacggggt tcatctccta cacaattcat
     2281 ttactccatt tgaatgctag agccactcac atttatttgt gtttctaatt taccgtttaa
     2341 atttatttgt aaaaagttaa gggagagttg gtctttccct gatgttcttt ctggcatcct
     2401 ttagcatttt tatttttaat ttgataattg taggtcatta gtatgcatat cgagtttgcc
     2461 cttaggtggt gggaattcaa acacacaaag acccactaat ttgcacaaaa ctattctggc
     2521 tggtttggaa caggctgcca tgctttttta atgttattgc agcatgtata ttcattccag
     2581 aattcagata aaatgtgctt atgttctgct attacgtttg atcgaatcct aaccacagtg
     2641 agctcttcat tagctcaata tgtggtttgc cctcaattga gcactgttta ttactttgta
     2701 atatgccact gtgagtactg acatttagag ttgtttaaag gccaagaact ggaaacagcc
     2761 ttttccctat tttctgtgta ttggggatgg gagtaataac attttgggga gctttttaaa
     2821 tctcacagaa gaggaaagtg gcctgctctg gcaggtgtgt gcaggataga gtgtgtttca
     2881 tttgttctgg tgccaagaat gagcgctgta ctatggtagt tcccttagga tttgtatgtg
     2941 ctctgggctc atgaagatat tgcatcatga gctgcagcag ttgtaccctt tcttgatgac
     3001 ctaaaaaggg attatttctg aggaatgaaa ggctcccatc attgactgtg gatgtggaaa
     3061 accttttcta gcttagagca tttatatcta caatacattt taaagtcaga gttcatgtta
     3121 cctgttttaa tcacgagtat atgtcccagt acacaaaagg gcactggttg gcattc
//
LOCUS       NM_001038705            5527 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.
ACCESSION   NM_001038705
VERSION     NM_001038705.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5527)
  AUTHORS   Kim YJ, Jang W, Piao XM, Yoon HY, Byun YJ, Kim JS, Kim SM, Lee SK,
            Seo SP, Kang HW, Kim WT, Yun SJ, Shon HS, Ryu KH, Kim SW, Ha YS,
            Yoon GS, Lee SC, Kwon TG and Kim WJ.
  TITLE     ZNF492 and GPR149 methylation patterns as prognostic markers for
            clear cell renal cell carcinoma: Array-based DNA methylation
            profiling
  JOURNAL   Oncol Rep 42 (1), 453-460 (2019)
   PUBMED   31115548
  REMARK    GeneRIF: Data revealed that hypermethylation of ZNF492 and GPR149
            was significantly associated with shorter timetoprogression of
            patients with clear cell renal cell carcinoma (ccRCC).
            Hypermethylation of ZNF492 and GPR149 may be independent predictors
            of tumor progression. Similarly, the methylation status of these two
            genes was significantly associated with poor outcomes in the
            independent external validation cohort.
REFERENCE   2  (bases 1 to 5527)
  AUTHORS   Kakarala KK and Jamil K.
  TITLE     Sequence-structure based phylogeny of GPCR Class A Rhodopsin
            receptors
  JOURNAL   Mol Phylogenet Evol 74, 66-96 (2014)
   PUBMED   24503482
  REMARK    Erratum:[Mol Phylogenet Evol. 2014 Jul;76:293-7]
REFERENCE   3  (bases 1 to 5527)
  AUTHORS   Katritch V, Cherezov V and Stevens RC.
  TITLE     Structure-function of the G protein-coupled receptor superfamily
  JOURNAL   Annu Rev Pharmacol Toxicol 53, 531-556 (2013)
   PUBMED   23140243
  REMARK    Review article
REFERENCE   4  (bases 1 to 5527)
  AUTHORS   Civelli O, Reinscheid RK, Zhang Y, Wang Z, Fredriksson R and Schioth
            HB.
  TITLE     G protein-coupled receptor deorphanizations
  JOURNAL   Annu Rev Pharmacol Toxicol 53, 127-146 (2013)
   PUBMED   23020293
  REMARK    Review article
REFERENCE   5  (bases 1 to 5527)
  AUTHORS   Katritch V, Cherezov V and Stevens RC.
  TITLE     Diversity and modularity of G protein-coupled receptor structures
  JOURNAL   Trends Pharmacol Sci 33 (1), 17-27 (2012)
   PUBMED   22032986
  REMARK    Review article
REFERENCE   6  (bases 1 to 5527)
  AUTHORS   Edson MA, Lin YN and Matzuk MM.
  TITLE     Deletion of the novel oocyte-enriched gene, Gpr149, leads to
            increased fertility in mice
  JOURNAL   Endocrinology 151 (1), 358-368 (2010)
   PUBMED   19887567
REFERENCE   7  (bases 1 to 5527)
  AUTHORS   Schoneberg T, Hofreiter M, Schulz A and Rompler H.
  TITLE     Learning from the past: evolution of GPCR functions
  JOURNAL   Trends Pharmacol Sci 28 (3), 117-121 (2007)
   PUBMED   17280721
  REMARK    Review article
REFERENCE   8  (bases 1 to 5527)
  AUTHORS   Vassilatis DK, Hohmann JG, Zeng H, Li F, Ranchalis JE, Mortrud MT,
            Brown A, Rodriguez SS, Weller JR, Wright AC, Bergmann JE and
            Gaitanaris GA.
  TITLE     The G protein-coupled receptor repertoires of human and mouse
  JOURNAL   Proc Natl Acad Sci U S A 100 (8), 4903-4908 (2003)
   PUBMED   12679517
REFERENCE   9  (bases 1 to 5527)
  AUTHORS   Friedel RH, Stubbusch J, Barde YA and Schnurch H.
  TITLE     A novel 7-transmembrane receptor expressed in nerve growth
            factor-dependent sensory neurons
  JOURNAL   Mol Cell Neurosci 17 (1), 31-40 (2001)
   PUBMED   11161467
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ318360.1, AY255534.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148874,
            SAMN03267754 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000389740.3/ ENSP00000374390.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092946.7, DQ318360.1,
            AC134026.2 and BU743000.1.
            On Nov 24, 2018 this sequence version replaced NM_001038705.2.
            Summary: This gene encodes a seven-transmembrane G protein coupled
            receptor (GPCR) class A family member. Although categorized as a
            class A GPCR, the encoded protein lacks the first two charged amino
            acids of the highly conserved Asp-Arg-Tyr (DRY) motif found in the
            third transmembrane helix of class A receptors which is important
            for efficient G protein-coupled signal transduction. Mice with a
            knockout of the orthologous gene are viable and have normal
            maturation of the ovarian follicle, but show enhanced fertility and
            ovulation. All GPCRs have a common structural architecture
            consisting of seven transmembrane alpha-helices interconnected by
            three extracellular and three intracellular loops. A general
            feature of GPCR signaling is agonist-induced conformational changes
            in the receptor, leading to activation of the heterotrimeric G
            proteins, which consist of the guanine nucleotide-binding G-alpha
            subunit and the dimeric G-beta-gamma subunits. The activated G
            proteins then bind to and activate numerous downstream effector
            proteins, which generate second messengers that mediate a broad
            range of cellular and physiological processes. [provided by RefSeq,
            Jul 2017].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5527
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.2"
     gene            1..5527
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="G protein-coupled receptor 149"
                     /db_xref="GeneID:344758"
                     /db_xref="HGNC:HGNC:23627"
     misc_feature    564..566
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="upstream in-frame stop codon"
     CDS             576..2771
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="G protein-coupled receptor PGR10"
                     /codon_start=1
                     /product="probable G-protein coupled receptor 149"
                     /protein_id="NP_001033794.1"
                     /db_xref="CCDS:CCDS43162.1"
                     /db_xref="GeneID:344758"
                     /db_xref="HGNC:HGNC:23627"
                     /translation="MSLFLSNLSTNDSSLWKENHNSTDLLNPPGTLNIYLFCLTCLMTF
                     AALVGSIYSLISLLKMQNRTVVSMLVASWSVDDLMSVLSVTIFMFLQWPNEVPGYFQFL
                     CTTSALMYLCQGLSSNLKATLLVSYNFYTMHRGVGSQTASRRSGQVLGVVLTVWAASLL
                     LSALPLCGWGAFVRTPWGCLVDCSSSYVLFLSIVYALAFGLLVGLSVPLTHRLLCSEEP
                     PRLHSNYQEISRGASIPGTPPTAGRVVSLSPEDAPGPSLRRSGGCSPSSDTVFGPGAPA
                     AAGAEACRRENRGTLYGTRSFTVSVAQKRFALILALTKVVLWLPMMMHMVVQNVVGFQS
                     LPLETFSFLLTLLATTVTPVFVLSKRWTHLPCGCIINCRQNAYAVASDGKKIKRKGFEF
                     NLSFQKSYGIYKIAHEDYYDDDENSIFYHNLMNSECETTKDPQRDNRNIFNAIKVEIST
                     TPSLDSSTQRGINKCTNTDITEAKQDSNNKKDAFSDKTGGDINYEETTFSEGPERRLSH
                     EESQKPDLSDWEWCRSKSERTPRQRSGYALAIPLCAFQGTVSLHAPTGKTLSLSTYEVS
                     AEGQKITPASKKIEVYRSKSVGHEPNSEDSSSTFVDTSVKIHLEVLEICDNEEALDTVS
                     IISNISQSSTQVRSPSLRYSRKENRFVSCDLGETASYSLFLPTSNPDGDINISIPDTVE
                     AHRQNSKRQHQERDGYQEEIQLLNKAYRKREEESKGS"
     misc_feature    594..596
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q86SP6.2); glycosylation site"
     misc_feature    606..608
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q86SP6.2); glycosylation site"
     misc_feature    636..638
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q86SP6.2); glycosylation site"
     misc_feature    681..743
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SP6.2);
                     transmembrane region"
     misc_feature    783..845
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SP6.2);
                     transmembrane region"
     misc_feature    903..971
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SP6.2);
                     transmembrane region"
     misc_feature    1041..1103
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SP6.2);
                     transmembrane region"
     misc_feature    1143..1205
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SP6.2);
                     transmembrane region"
     misc_feature    1275..1388
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SP6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1506..1568
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SP6.2);
                     transmembrane region"
     misc_feature    1602..1664
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SP6.2);
                     transmembrane region"
     misc_feature    1998..2153
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SP6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      5258..5263
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="hexamer: AATAAA"
     polyA_site      5279
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
     regulatory      5333..5338
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="hexamer: AATAAA"
     polyA_site      5352
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
     regulatory      5504..5509
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="hexamer: AATAAA"
     polyA_site      5526
                     /gene="GPR149"
                     /gene_synonym="IEDA; PGR10; R35"
                     /note="major polyA site"
ORIGIN
        1 gcacaagctc cctctgactg gctcgcgctc gccctctctc tctctctctc tgtctctctc
       61 tctctctcca ccttcaaagc tgaaacctac ctgacaatct cctgcctttg aatccagctc
      121 tggaaccaaa tgcatcattt tactgctctt aaaagtgaac agagtttgat tatctcaagc
      181 tacaagctgc tttgctccat aagaaggacc ccaaaggatc cagacatcat tggtttttaa
      241 tgtacctgaa gagttttgtt ttgtttattt ttttggcttt cttccctgaa acttgatggt
      301 gggaaggagt ttttgctttg tttttaattg gaatgttgaa aagttatctg ttcgggtttt
      361 ttttttttta tgcttgaaat ggaacctaat ttttaaatat agcttgagtc agatctaaag
      421 gagacatggc tgaccatttt ctgcaggact gacaaggaga acatctagag gggaacttgg
      481 taggaggaat gaaatctgat ttgcagcagc cggtctttct tttgagaaaa ttatcagact
      541 cattgataag ggaaattaaa tattgaccaa ggacaatgtc tttatttctc agtaacttat
      601 caacaaatga ctctagcctg tggaaagaga atcataattc tacggacctt ttaaatccgc
      661 caggaaccct gaatatctat cttttttgct tgacatgtct catgactttt gcagccttgg
      721 tgggcagcat ttattcacta atttccctgc tgaaaatgca gaacagaact gttgtgtcca
      781 tgcttgtggc ttcctggtct gtggatgatc tcatgagcgt cctgtcggtg accatcttca
      841 tgtttttgca gtggccaaac gaggtccccg gttacttcca atttctgtgc accacctctg
      901 ccttaatgta tttatgccag ggcctctcta gcaacttgaa ggcgactctc ctagtctctt
      961 acaactttta tacgatgcac agaggtgtgg ggagccagac agcctccaga agatcgggcc
     1021 aggtgctcgg cgtggtgctg accgtgtggg cagccagtct gctgctctcg gcgctcccgc
     1081 tgtgcggctg gggcgccttc gtgcgcacgc cctggggctg cctggtggac tgctccagct
     1141 cctacgtact attcctctct atcgtgtacg ctttggcctt cggactcctc gtgggcctct
     1201 cagtcccact cactcaccga ttgctgtgtt cggaggagcc gccgagactc cactccaact
     1261 accaggaaat ttcccgtgga gcttcaattc ctgggacccc tcctactgcg gggagagtgg
     1321 tttccctgtc cccagaggat gctccaggcc cgagtctgcg gcgctctggg ggatgctctc
     1381 cgagctccga caccgtgttc ggaccgggtg cgcccgctgc cgctggggct gaagcctgca
     1441 ggcgtgagaa ccgggggact ctctatggca ccaggagctt caccgtgagc gtagcgcaga
     1501 agcgcttcgc tttgatccta gcgcttacaa aagtcgtcct ttggctgccc atgatgatgc
     1561 acatggtggt ccagaacgtc gtggggtttc agagccttcc cttggagaca ttcagctttc
     1621 tacttaccct gctggccacc actgtaaccc cagtgtttgt cttgtccaaa cgctggaccc
     1681 acttgccctg tggctgcatc atcaactgca ggcagaacgc atatgcagtg gcgtccgatg
     1741 ggaaaaaaat caagagaaaa ggctttgaat tcaatctatc attccaaaaa agttatggga
     1801 tttataaaat agcacatgaa gattactatg atgatgatga aaattccata ttctatcaca
     1861 acctgatgaa ctctgagtgt gaaactacaa aagaccctca gagagacaac cgtaacatct
     1921 tcaatgctat aaaagtagaa atcagcacca cgccctctct ggacagctcc acacaaagag
     1981 gcatcaacaa atgcacaaat actgatatta cagaagctaa acaggattcc aacaacaaaa
     2041 aggatgcgtt ttctgacaaa acaggaggtg atattaacta tgaagaaact accttttctg
     2101 aagggccaga aagaagactg tctcatgaag agagtcagaa accagatctt tcagactggg
     2161 agtggtgtag gagtaaatca gaaagaaccc ctcgtcagcg ttccggttat gcccttgcca
     2221 ttcccttgtg tgcattccag gggactgtgt ctctccatgc acctacaggg aaaaccctat
     2281 ctctttctac ctatgaggta agcgcagaag ggcaaaaaat aactccagcc tctaagaaaa
     2341 tagaagtcta tcgatccaaa agtgttggcc atgaaccaaa ctcagaagat tcttcatcca
     2401 cgtttgtgga caccagtgtg aaaatacact tggaggttct tgaaatttgt gataatgaag
     2461 aggccttgga cactgtgtca atcattagta acatcagtca gtcctccaca caagtcagat
     2521 ctccatccct acgttactcc aggaaagaaa acagatttgt ttcatgtgac ctaggggaaa
     2581 cagcctcata ctccctcttt ttgcccacca gtaatcctga tggtgatatt aatatctcca
     2641 ttccagacac agtagaagca cacaggcaga acagtaaaag gcagcatcaa gagagggatg
     2701 gctaccagga ggaaatccag ttgttaaata aagcttacag aaaaagagag gaagaaagca
     2761 agggtagtta gtgggtattt ggtctaacag gagcaagaat ggatctgcaa cgtcaactgt
     2821 gaaactaaca cctttgttat gagactgatt tccttttatt tgttggctta cattagtttt
     2881 actgatttaa tagttaattt ttttgtggga acaactggaa ctagtgtaaa cacttaagtg
     2941 catttgatgt gttacctaaa gatcacacac tgtggtaatg aaaagatttt acttcttatc
     3001 tgacttctaa aaaatatttt ctaaatcaaa tcttggccta gtttaccaat gtttttgctt
     3061 gtcaacttcc tagtaaacag aaaattgtat aaactcagtg aatatactgt tccatgcata
     3121 tgtttctata tacaatgttg gcctttactg caaaggggaa aaaagaggaa ttctgggaat
     3181 ggaagaaatg taacaaaacc ccaaattata tttgaaggaa cttgcctaaa tgtggctagc
     3241 aaaacaagct tattacactt actgctttag ctttacattc ttctgtaaaa tgaaaaatta
     3301 gcttccaact gagaaacacg caggttccta gtctataaat agttgtttcc ttcatttcta
     3361 ccaaatataa attgtttact gttttttctt tttttcttac ctataacagt tttcctttca
     3421 tcttttcagt atgtcaagac tgtcccataa aacaaatata ttgtgtgtta gaggtggaat
     3481 tagaagtatc tttaactcaa acattattgg aaaaaagttg taattgtgta attgtatact
     3541 ttatcctaaa attgtttttt tttttaactt gagtggaaat tgggagaaaa tactggcaga
     3601 ttcagttatg agaggtacat ccaaacatgg taggcttctg gatacagcag agcaaaatcc
     3661 tctaagtcta aaacaaaagt atctgttttt aaagctgagg attgggcaac ctttcttagt
     3721 cattcttgaa atagaaaagt ttacttcaaa tattatatca agtttagctg cttttttgtt
     3781 tcttctctaa agacgtgttg tctcaaagaa acagttgaac ctattttatt aagtgattgt
     3841 aaggtataca tttcaagata attctagaat gcattacatt gcaaaaatgc aggaatcacc
     3901 ttggcagaat aatagtaaga tgtatttcaa aaattataaa gtgattttcc ttcaaattgc
     3961 tttattctaa ccttcctgta aacatatatg aaatgtatta cctaaaagtt tattttccaa
     4021 agttactgag ttgacacttt acatagtctt agactttgtg cccctcacat cactcacata
     4081 ctttatttat ttatttacag attgaatgaa ttgtgtttta gaatgattta ttttggtttc
     4141 tgttttatta ggttgaatta gaattcaaaa ttacttgaca tcggctttca gaatgtttca
     4201 tcttttgttg ccacaagcat gagtcatttt caaaataatt atctcaatgg actttctcaa
     4261 tctttaactt ctcaatatct agttatctaa atttgggaaa catatgtatt accactaata
     4321 atgtttgtaa agcaagcctc aaataatgtg taacatataa attcaaagtc aaatgtattc
     4381 tcgttacaaa tatattttat tttaaaagac tgtatcacca atattaacag ctattttaac
     4441 acagtgacaa atggacagat aaatcagata ttataaatca gtagcattaa atgtctttat
     4501 aaaagaaaaa ttgaattgaa tattctcata atgctttgta gaagataggc tttgatatct
     4561 taaacttaga tgtataattt tctgaaagag aaaggtgata ttgctgcttt aaaatgcaat
     4621 ttcaggcaaa aaggaaatta gacacaggat cataataaag ctgaagaaaa tagcaaagat
     4681 ttgaaggcaa acaaattctt tataactgca cagcaatttg aatgggatgg agattataac
     4741 agaaatcaag gtttaaagag cattaagaaa tagatagaag acaataatac ccattttccg
     4801 tctcatttta ttttaactgg acaagggctt aaactggggg aattggaaaa ataattagga
     4861 tattcccatt taattgccct tggttgttga attaactgta taatggatgc acataaaaat
     4921 tctgctgcat tgaaacaaca ccagtattat ttagcccaaa gtcttagttt gaaaggctaa
     4981 tcagcaccat attactaacc tgtaacactt caaactccaa gccaacaata gctgaatata
     5041 caagaaaaat ctactagagc tgtgcctaag catgaatgac gctccaaatc cttgttaagg
     5101 gaggagaagg ttaaactaca taagtttact taagtctgct tactctttag agtgattgat
     5161 tataaaagtg tgtttctagt agaggaaata cctttctaga tatcttgtga tatagccaaa
     5221 taccttaccc ttgtatagtt atattgttct tcttattaat aaatactata ttttgtatag
     5281 ttttctcttt tctctataaa ttgatgtatc tgaaggcaaa aacttattac ctaataaaaa
     5341 tatcaccatc tggtggtgac tcctataaac tgcaaacacg taatccccga gactcccaaa
     5401 tagtataaac acctaatata taatccctaa gacttctgag agttgtgact gacagaggca
     5461 actctttgaa gatagcaaat ggcacaatat tacttaaaaa tataataaaa gagtcttagt
     5521 tatgcat
//
LOCUS       NM_001039               3477 bp    mRNA    linear   PRI 14-DEC-2022
DEFINITION  Homo sapiens sodium channel epithelial 1 subunit gamma (SCNN1G),
            mRNA.
ACCESSION   NM_001039
VERSION     NM_001039.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3477)
  AUTHORS   Yang Y, Zhong X, Lan Y, Liang P, Huang Y, Wang Y, Zhou X, Zhang Z,
            Liang Y and Xiao X.
  TITLE     Aberrant inactivation of SCNN1G promotes the motility of head and
            neck squamous cell carcinoma
  JOURNAL   Pathol Res Pract 240, 154175 (2022)
   PUBMED   36327816
  REMARK    GeneRIF: Aberrant inactivation of SCNN1G promotes the motility of
            head and neck squamous cell carcinoma.
REFERENCE   2  (bases 1 to 3477)
  AUTHORS   Hayakawa T, Fukuhara A, Saiki A, Otsuki M and Shimomura I.
  TITLE     gammaENaC/CD9 in urinary extracellular vesicles as a potential
            biomarker of MR activity
  JOURNAL   J Endocrinol 252 (2), 81-90 (2021)
   PUBMED   34755678
  REMARK    GeneRIF: gammaENaC/CD9 in urinary extracellular vesicles as a
            potential biomarker of MR activity. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3477)
  AUTHORS   Pierandrei S, Truglio G, Ceci F, Del Porto P, Bruno SM, Castellani
            S, Conese M, Ascenzioni F and Lucarelli M.
  TITLE     DNA Methylation Patterns Correlate with the Expression of SCNN1A,
            SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes
  JOURNAL   Int J Mol Sci 22 (7), 3754 (2021)
   PUBMED   33916525
  REMARK    GeneRIF: DNA Methylation Patterns Correlate with the Expression of
            SCNN1A, SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3477)
  AUTHORS   Archer CR, Enslow BT, Carver CM and Stockand JD.
  TITLE     Phosphatidylinositol 4,5-bisphosphate directly interacts with the
            beta and gamma subunits of the sodium channel ENaC
  JOURNAL   J Biol Chem 295 (23), 7958-7969 (2020)
   PUBMED   32341072
  REMARK    GeneRIF: Phosphatidylinositol 4,5-bisphosphate directly interacts
            with the beta and gamma subunits of the sodium channel ENaC.
REFERENCE   5  (bases 1 to 3477)
  AUTHORS   Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B,
            Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L,
            Balascakova M, Hjelte L, Lebecque P, Radojkovic D, Castellani C,
            Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I,
            Girodon E, Ferec C, Claustres M, Tummler B, Cassiman JJ, Korbmacher
            C and Cuppens H.
  TITLE     Mutations in the amiloride-sensitive epithelial sodium channel in
            patients with cystic fibrosis-like disease
  JOURNAL   Hum Mutat 30 (7), 1093-1103 (2009)
   PUBMED   19462466
REFERENCE   6  (bases 1 to 3477)
  AUTHORS   Saxena A, Hanukoglu I, Saxena D, Thompson RJ, Gardiner RM and
            Hanukoglu A.
  TITLE     Novel mutations responsible for autosomal recessive multisystem
            pseudohypoaldosteronism and sequence variants in epithelial sodium
            channel alpha-, beta-, and gamma-subunit genes
  JOURNAL   J Clin Endocrinol Metab 87 (7), 3344-3350 (2002)
   PUBMED   12107247
  REMARK    GeneRIF: Novel mutations responsible for autosomal recessive
            multisystem pseudohypoaldosteronism and sequence variants in
            epithelial sodium channel gamma-subunit gene.
REFERENCE   7  (bases 1 to 3477)
  AUTHORS   Waldmann R, Champigny G, Bassilana F, Voilley N and Lazdunski M.
  TITLE     Molecular cloning and functional expression of a novel
            amiloride-sensitive Na+ channel
  JOURNAL   J Biol Chem 270 (46), 27411-27414 (1995)
   PUBMED   7499195
REFERENCE   8  (bases 1 to 3477)
  AUTHORS   Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y,
            Canessa C, Iwasaki T, Rossier B and Lifton RP.
  TITLE     Hypertension caused by a truncated epithelial sodium channel gamma
            subunit: genetic heterogeneity of Liddle syndrome
  JOURNAL   Nat Genet 11 (1), 76-82 (1995)
   PUBMED   7550319
REFERENCE   9  (bases 1 to 3477)
  AUTHORS   Voilley N, Bassilana F, Mignon C, Merscher S, Mattei MG, Carle GF,
            Lazdunski M and Barbry P.
  TITLE     Cloning, chromosomal localization, and physical linkage of the beta
            and gamma subunits (SCNN1B and SCNN1G) of the human epithelial
            amiloride-sensitive sodium channel
  JOURNAL   Genomics 28 (3), 560-565 (1995)
   PUBMED   7490094
REFERENCE   10  (bases 1 to 3477)
  AUTHORS   McDonald FJ, Price MP, Snyder PM and Welsh MJ.
  TITLE     Cloning and expression of the beta- and gamma-subunits of the human
            epithelial sodium channel
  JOURNAL   Am J Physiol 268 (5 Pt 1), C1157-C1163 (1995)
   PUBMED   7762608
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC059391.1, SRR1660805.207998.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000300061.3/ ENSP00000300061.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC059391.1, X87160.1 and
            AC099482.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001039.3.
            Summary: Nonvoltage-gated, amiloride-sensitive, sodium channels
            control fluid and electrolyte transport across epithelia in many
            organs. These channels are heteromeric complexes consisting of 3
            subunits: alpha, beta, and gamma. This gene encodes the gamma
            subunit, and mutations in this gene have been associated with
            Liddle syndrome. [provided by RefSeq, Apr 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3477
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.2"
     gene            1..3477
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /note="sodium channel epithelial 1 subunit gamma"
                     /db_xref="GeneID:6340"
                     /db_xref="HGNC:HGNC:10602"
                     /db_xref="MIM:600761"
     misc_feature    6..8
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /note="upstream in-frame stop codon"
     CDS             114..2063
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /note="amiloride-sensitive sodium channel gamma-subunit;
                     sodium channe epithelial 1 gamma subunit; ENaC gamma
                     subunit; amiloride-sensitive epithelial sodium channel
                     gamma subunit; gamma-ENaC; sodium channel epithelial 1
                     gamma subunit; gamma-NaCH; epithelial Na(+) channel subunit
                     gamma; nonvoltage-gated sodium channel 1 subunit gamma;
                     sodium channel, nonvoltage-gated 1, gamma; sodium channel,
                     non-voltage-gated 1, gamma subunit"
                     /codon_start=1
                     /product="amiloride-sensitive sodium channel subunit gamma"
                     /protein_id="NP_001030.2"
                     /db_xref="CCDS:CCDS10608.1"
                     /db_xref="GeneID:6340"
                     /db_xref="HGNC:HGNC:10602"
                     /db_xref="MIM:600761"
                     /translation="MAPGEKIKAKIKKNLPVTGPQAPTIKELMRWYCLNTNTHGCRRIV
                     VSRGRLRRLLWIGFTLTAVALILWQCALLVFSFYTVSVSIKVHFRKLDFPAVTICNINP
                     YKYSTVRHLLADLEQETREALKSLYGFPESRKRREAESWNSVSEGKQPRFSHRIPLLIF
                     DQDEKGKARDFFTGRKRKVGGSIIHKASNVMHIESKQVVGFQLCSNDTSDCATYTFSSG
                     INAIQEWYKLHYMNIMAQVPLEKKINMSYSAEELLVTCFFDGVSCDARNFTLFHHPMHG
                     NCYTFNNRENETILSTSMGGSEYGLQVILYINEEEYNPFLVSSTGAKVIIHRQDEYPFV
                     EDVGTEIETAMVTSIGMHLTESFKLSEPYSQCTEDGSDVPIRNIYNAAYSLQICLHSCF
                     QTKMVEKCGCAQYSQPLPPAANYCNYQQHPNWMYCYYQLHRAFVQEELGCQSVCKEACS
                     FKEWTLTTSLAQWPSVVSEKWLLPVLTWDQGRQVNKKLNKTDLAKLLIFYKDLNQRSIM
                     ESPANSIEMLLSNFGGQLGLWMSCSVVCVIEIIEVFFIDFFSIIARRQWQKAKEWWAWK
                     QAPPCPEAPRSPQGQDNPALDIDDDLPTFNSALHLPPALGTQVPGTPPPKYNTLRLERA
                     FSNQLTDTQMLDEL"
     misc_feature    279..341
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /note="propagated from UniProtKB/Swiss-Prot (P51170.4);
                     transmembrane region"
     misc_feature    738..740
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51170.4); glycosylation site"
     misc_feature    1602..1604
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P51170.4); glycosylation site"
     misc_feature    1737..1799
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /note="propagated from UniProtKB/Swiss-Prot (P51170.4);
                     transmembrane region"
     regulatory      2561..2566
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /note="hexamer: AATAAA"
     polyA_site      2583
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
     regulatory      3450..3455
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /note="hexamer: AATAAA"
     polyA_site      3477
                     /gene="SCNN1G"
                     /gene_synonym="BESC3; ENaCg; ENaCgamma; LDLS2; PHA1;
                     PHA1B3; SCNEG"
                     /note="major polyA site"
ORIGIN
        1 gatgctagcc cgagagcgag cagaggagca gcgcacccgc acgagccttg gaccctttgg
       61 aaccgaaagc acgcccgtcc tcagagtccc gtcctcaaag tcccatcctc gccatggcac
      121 ccggagagaa gatcaaagcc aaaatcaaga agaatctgcc cgtgacgggc cctcaggcgc
      181 cgaccattaa agagctgatg cggtggtact gcctcaacac caacacccat ggctgtcgcc
      241 gcatcgtggt gtcccgcggc cgtctgcgcc gcctcctctg gatcgggttc acactgactg
      301 ccgtggccct catcctctgg cagtgcgccc tcctcgtctt ctccttctat actgtctcag
      361 tttccatcaa agtccacttc cggaagctgg attttcctgc agtcaccatc tgcaacatca
      421 acccctacaa gtacagcacc gttcgccacc ttctagctga cttggaacag gagaccagag
      481 aggccctgaa gtccctgtat ggctttccag agtcccggaa gcgccgagag gcggagtcct
      541 ggaactccgt ctcagaggga aagcagccta gattctccca ccggattccg ctgctgatct
      601 ttgatcagga tgagaagggc aaggccaggg acttcttcac agggaggaag cggaaagtcg
      661 gcggtagcat cattcacaag gcttcaaatg tcatgcacat cgagtccaag caagtggtgg
      721 gattccaact gtgctcaaat gacacctccg actgtgccac ctacaccttc agctcgggaa
      781 tcaatgccat tcaggagtgg tataagctac actacatgaa catcatggca caggtgcctc
      841 tggagaagaa aatcaacatg agctattctg ctgaggagct gctggtgacc tgcttctttg
      901 atggagtgtc ctgtgatgcc aggaatttca cgcttttcca ccacccgatg catgggaatt
      961 gctatacttt caacaacaga gaaaatgaga ccattctcag cacctccatg gggggcagcg
     1021 aatatgggct gcaagtcatt ttgtacataa acgaagagga atacaaccca ttcctcgtgt
     1081 cctccactgg agctaaggtg atcatccatc ggcaggatga gtatcccttc gtcgaagatg
     1141 tgggaacaga gattgagaca gcaatggtca cctctatagg aatgcacctg acagagtcct
     1201 tcaagctgag tgagccctac agtcagtgca cggaggacgg gagtgacgtg ccaatcagga
     1261 acatctacaa cgctgcctac tcgctccaga tctgccttca ttcatgcttc cagacaaaga
     1321 tggtggagaa atgtgggtgt gcccagtaca gccagcctct acctcctgca gccaactact
     1381 gcaactacca gcagcacccc aactggatgt attgttacta ccaactgcat cgagcctttg
     1441 tccaggaaga gctgggctgc cagtctgtgt gcaaggaagc ctgcagcttt aaagagtgga
     1501 cactaaccac aagcctggca caatggccat ctgtggtttc ggagaagtgg ttgctgcctg
     1561 ttctcacttg ggaccaaggc cggcaagtaa acaaaaagct caacaagaca gacttggcca
     1621 aactcttgat attctacaaa gacctgaacc agagatccat catggagagc ccagccaaca
     1681 gtattgagat gcttctgtcc aacttcggtg gccagctggg cctgtggatg agctgctctg
     1741 ttgtctgcgt catcgagatc atcgaggtct tcttcattga cttcttctct atcattgccc
     1801 gccgccagtg gcagaaagcc aaggagtggt gggcctggaa acaggctccc ccatgtccag
     1861 aagctccccg tagcccacag ggccaggaca atccagccct ggatatagac gatgacctac
     1921 ccactttcaa ctctgctttg cacctgcctc cagccctagg aacccaagtg cccggcacac
     1981 cgccccccaa atacaatacc ttgcgcttgg agagggcctt ttccaaccag ctcacagata
     2041 cccagatgct ggatgagctc tgaggcaggg ttgagaagac agatctagtc aggaccacca
     2101 gccatggtct aaggacatgg atcgggtgcc cccagacgtg tgcacagggg accctctgcc
     2161 ccactctggg cttttcagat actctgacca aaaagcctgc tttaaaccgc aagatggggc
     2221 ctgggcatgc gcaggaggag ccatcgggta ctacgcagca acactcacaa ctgtccaggc
     2281 tgagataaat cccgggacct gaactattag cacgtcacta gagactggga gccgaggcag
     2341 tggtgctggc ccaagtgaag gccagagtga ggactgatgc agctctttac gggtcttgag
     2401 agggaaggac tcttccaaag ccccaaagcc gagggtttca cccacactgc cagcctgggt
     2461 tggggcccaa ggatgtgacc ttgagtgtca aggctggaca gctactgcca gatgccaaag
     2521 ataggagaaa gtgccagccc tgaagctgga gccgtttgtg aataaactgt tcttcatcat
     2581 tgacactgga gaaaggtgtc ctccatgccc tcaggcagca gagaactggc ccagagccct
     2641 tggagtgttg gtggagatca gagtgccgtg gtggaggtct gggactatgt cagagtgtcc
     2701 tcactttggg gcatgggtgg gtccaggaga tggatttagt tattcaattt tgtggatgaa
     2761 taaattgagg cacagaaaga ttaagttacc ggcccaaggt gacacagtga ggaggtggca
     2821 gagctaggat ttgaacccag acaatctgac ttcatgattt tgcatccaat tcgtgtctgt
     2881 gccttttaaa gggtgaggtc tgtgtcactt tgggtgggga gggggagcat ggtgggccat
     2941 gctctgggca gctgttccaa gacagagctg acccttccat taccaatggc ctgtccctca
     3001 ccaacaagcc aactgccaca gatgacccac ttcataccac attcacatct ttccacctga
     3061 aatggctaac aggtattaaa tccttggttg gtgtttaaag ccaacccaag aacagggtgt
     3121 taggtactgt tttaagcacc tagataggtt agcatagggg actgcaaatg gtgttccgca
     3181 aagcaaatcc tgtttttgac catgaactaa gaattttatt ttattttatt ttttattttt
     3241 tgtagaaata ggatctcact atgttgccca ggctgttctt gaactcctgg cctcaaatga
     3301 tcttcccact tcagcctccc aaagtgcagg gattacaggc acaagccacc gtgcccagcc
     3361 aagaattttt atttttgctt ttaaatagca aaagaagaag attctgtgac tcatgaaaat
     3421 gatatgagat tcgaattcca gtgtctataa ataaagtttt attggtacac agccaca
//
LOCUS       NM_001039029            3653 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens leucine rich repeats and transmembrane domains 2
            (LRTM2), transcript variant 1, mRNA.
ACCESSION   NM_001039029
VERSION     NM_001039029.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3653)
  AUTHORS   McGue M, Zhang Y, Miller MB, Basu S, Vrieze S, Hicks B, Malone S,
            Oetting WS and Iacono WG.
  TITLE     A genome-wide association study of behavioral disinhibition
  JOURNAL   Behav Genet 43 (5), 363-373 (2013)
   PUBMED   23942779
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.21033.1, AK095610.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2154665
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000299194.6/ ENSP00000299194.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA336140.1, DA418133.1, AK095610.1, BC036868.1, BX115405.1 and
            AC005343.1.
            On Nov 22, 2018 this sequence version replaced NM_001039029.2.
            Transcript Variant: This variant (1) represents the shortest
            transcript. Variants 1-3 encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3653
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.33"
     gene            1..3653
                     /gene="LRTM2"
                     /note="leucine rich repeats and transmembrane domains 2"
                     /db_xref="GeneID:654429"
                     /db_xref="HGNC:HGNC:32443"
     misc_feature    290..292
                     /gene="LRTM2"
                     /note="upstream in-frame stop codon"
     CDS             509..1621
                     /gene="LRTM2"
                     /note="leucine-rich repeat and transmembrane
                     domain-containing protein 2"
                     /codon_start=1
                     /product="leucine-rich repeat and transmembrane
                     domain-containing protein 2 precursor"
                     /protein_id="NP_001034118.1"
                     /db_xref="CCDS:CCDS31726.1"
                     /db_xref="GeneID:654429"
                     /db_xref="HGNC:HGNC:32443"
                     /translation="MLAPGSSPGQRGRLALQWRQVSWITCWIALYAVEALPTCPFSCKC
                     DSRSLEVDCSGLGLTTVPPDVPAATRTLLLLNNKLSALPSWAFANLSSLQRLDLSNNFL
                     DRLPRSIFGDLTNLTELQLRNNSIRTLDRDLLRHSPLLRHLDLSINGLAQLPPGLFDGL
                     LALRSLSLRSNRLQNLDRLTFEPLANLQLLQVGDNPWECDCNLREFKHWMEWFSYRGGR
                     LDQLACTLPKELRGKDMRMVPMEMFNYCSQLEDENSSAGLDIPGPPCTKASPEPAKPKP
                     GAEPEPEPSTACPQKQRHRPASVRRAMGTVIIAGVVCGVVCIMMVVAAAYGCIYASLMA
                     KYHRELKKRQPLMGDPEGEHEDQKQISSVA"
     sig_peptide     509..613
                     /gene="LRTM2"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8N967.1)"
     misc_feature    713..778
                     /gene="LRTM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N967.1);
                     Region: LRR 1"
     misc_feature    776..778
                     /gene="LRTM2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N967.1); glycosylation site"
     misc_feature    785..850
                     /gene="LRTM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N967.1);
                     Region: LRR 2"
     misc_feature    857..925
                     /gene="LRTM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N967.1);
                     Region: LRR 3"
     misc_feature    857..859
                     /gene="LRTM2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N967.1); glycosylation site"
     misc_feature    881..883
                     /gene="LRTM2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N967.1); glycosylation site"
     misc_feature    929..994
                     /gene="LRTM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N967.1);
                     Region: LRR 4"
     misc_feature    1001..1066
                     /gene="LRTM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N967.1);
                     Region: LRR 5"
     misc_feature    1277..1279
                     /gene="LRTM2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N967.1); glycosylation site"
     misc_feature    1289..1408
                     /gene="LRTM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N967.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1439..1501
                     /gene="LRTM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N967.1);
                     transmembrane region"
     misc_feature    1559..1618
                     /gene="LRTM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N967.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3629..3634
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRTM2"
                     /note="hexamer: AATAAA"
     polyA_site      3653
                     /gene="LRTM2"
                     /note="major polyA site"
ORIGIN
        1 atccctctct ttccttctca gtttgtgact gacccagcag ccccgtcccc cgtctgccac
       61 aagcagtcca cctcctggtg ctgtgtgctg cgtgccagcc gctgctcccg ctgagtggag
      121 actctggcac cagtgcccac tgcgctctgc ctgccggtgg tgtctggatt tctataggaa
      181 tcccaggagg gtcttactgg agggttgaga gccacctgat tgaaggcgtt tgcagtcaga
      241 gtaaagacgg ctgccgcagc atgaacccct gagctgatga gtcttattat agcccggctg
      301 gcggaagaca gagtgctgct attcacctct gcgtgggcgt cggtggtgca gggggaagca
      361 gcaggccatc cagcggctca caccctacgc ggctgcagct gccaagggcc tggcccctgc
      421 ctccctcggg ccatggactg acaggcggcg cacccagggg ctcctctctc cccagagcga
      481 cagggcccgg agagccgtgg gcctcaccat gctggcgccg ggcagcagcc ctgggcagag
      541 gggcaggctc gccctgcagt ggaggcaagt ctcctggatc acctgctgga tcgccctgta
      601 tgctgtggag gccctcccca cctgcccttt ctcctgcaag tgtgacagcc gcagcctgga
      661 ggtggactgc agtggccttg gcctcaccac ggtgccccca gacgtgcccg cagccacccg
      721 aaccctcttg ctcttgaaca ataagctgag tgccctgcca agctgggctt tcgccaacct
      781 ctccagcctg cagcggttgg acctgtccaa caacttcctg gaccggctgc cccgctccat
      841 tttcggggac ctgacgaatc tgactgagct tcagctgcgc aataacagca tcaggaccct
      901 ggacagggac ctgctgcggc actcgccgct gctccgccac ctggacctgt ccatcaacgg
      961 cctggcccag ttgccccctg gtcttttcga cgggctcctg gctctgcgct ccctctcgct
     1021 tcgctccaac cgtctgcaga atctggaccg gctgacattt gaacccctag caaacctgca
     1081 gctgctgcag gtcggggata acccctggga gtgtgactgt aacctgcgtg agttcaaaca
     1141 ctggatggag tggttctcct accgaggggg acgcttggac cagcttgcct gcaccctgcc
     1201 caaggagctg agggggaagg acatgcggat ggtccccatg gagatgttca actactgctc
     1261 ccagctggag gacgagaata gctcagctgg gctggatatt cctgggccac cctgcaccaa
     1321 ggccagtcca gagcctgcta agcccaagcc cggggctgag ccggagccgg agcccagcac
     1381 agcctgccca cagaagcaga ggcaccggcc ggcgagcgtg aggcgagcca tgggcacggt
     1441 gatcattgca ggggtcgtgt gcggcgtcgt ctgcatcatg atggtggtgg ccgctgccta
     1501 tggctgcatc tacgcctccc tcatggccaa gtaccaccgg gagctcaaaa agcgccagcc
     1561 cctgatgggg gaccccgagg gcgagcacga ggaccagaag cagatctctt ctgtggcctg
     1621 agcgcccatc cccacccggc caggtaggaa gggcggggag agcacacggc attgctcagc
     1681 cacagctccc accttgaccc ggcgctggcc actgcctccc cgagtccacc ctcctccccg
     1741 ccctccagca gacaagccac accgggttct ctccctgcac tttcgaggct ccctgaaagc
     1801 caccgtgctg ggggctcctg ctgatgctcc tgtctgggcc agtaaatctt tggaacatgt
     1861 gggggatctc cctaagctct ggccacagca aagcaaggag gtgtgtgcaa gaggaggctt
     1921 ccggactggg cattcccctg tcgcccttcc tgccctgggg tggccatagc tggtgactct
     1981 tcctaccttg ctggtcccac ctcacctgca ttgaggggac ggggagggag ggatctgagg
     2041 gatgaaggta gatttctgag actctctcct aagccagaaa gacgttctta acacccctgc
     2101 agtgtgaaag ctggtccagc tctacaactg ttggtaccaa tgtgcaaaca caccagccct
     2161 gccatctgga cccagcactc agaaacacca tacacccctg gccgacgcca tcatgcccct
     2221 ggatctgcta taggccacac tgaccacatg ctcctggatt cgctaattca ctcacacacc
     2281 cattgcatca ccagtgcggt cacatggatt gaaagaatta atacacacac acacacacac
     2341 acactcacac ggtcacacgg agaccgaggc tatgagcgct cgaacagcag agacatgctc
     2401 ttccccaggg gtctccctga gaccacagag cctctcgcgt gctcactgca atcttctcaa
     2461 gtcaacagca ggaaggaact caaccagtaa caccaggatc ctttgagatc ctctaaagtg
     2521 ggccaaagtg gtgcccctgg aggagccctc ctgtcaccat ggtaaccctc tcacacctct
     2581 cctgctgggc tttcccggga taccacccag gggcctggag cggctgcatg tgtgcatggc
     2641 ggcctcctga ggacccagcc acacaccact ggtgttgcct cggtcctgcc cacgcatctc
     2701 acagcaccag gccctgtggg gcccccactg attcctccac agcctgcagc ctggcaccgt
     2761 gactctgtgc ctctcgccct ccatcttcag tactcctggc ctgtgacttc agggctggga
     2821 cttggtggtg ctttgccatt ggtggcaccc tctggggaaa gcaggtggca ggcagagaac
     2881 acggtggctc ccctgaggct cattgcctgc cagcttattg cagacagagc ccaggagcag
     2941 gagcgggtgg ccacgtgctg cccagaggct cccaggatgg ggcctctgtt cccgggcttt
     3001 gtctgctcag tgtggctccc tagagcaccc agccggggcc aaaccagaga gtgggtgggg
     3061 agcctgtctg ggacagagcc acctgctgcc aaggcagtgc aagttttcca ggttacctgt
     3121 ccccctccct agctctgccc ctcctcagag tgtgaagatg gtgggtacct aggtgtcatg
     3181 ctcacaggct caggaggcat caggctcgtc cctggctctg ggatggaatc tcgatggggg
     3241 ctcaggaaga ggccagcaag aaccctgaag ccaagggtct gagcagaggg agttggcagg
     3301 cctagctcct gtgccccact ccgaccctcc ctgctcatgc ggcagtgggt gggtgaggtg
     3361 ggctgggggc ctggaggagt gcctttgagg aggtcagtcc tggcaggtgg acagaggacg
     3421 cctggcatgg gctgcttact gggaccccag gcggccctgg ccatggccac agtcttcctt
     3481 cttttggcgt gtgggctggt accagatctg gggattttct aaagggactg gggggagggg
     3541 agggcattgt caatggtggt atctttagcc tgagacagaa gatttttaaa ggcaaaatta
     3601 tatttctggt ttgttgtttc agaagaccaa taaagactgt attttcctat gta
//
LOCUS       NM_001039083            5240 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens ADP ribosylation factor like GTPase 17B (ARL17B),
            transcript variant 1, mRNA.
ACCESSION   NM_001039083
VERSION     NM_001039083.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5240)
  AUTHORS   Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC,
            Olsen JV and Mann M.
  TITLE     Lysine acetylation targets protein complexes and co-regulates major
            cellular functions
  JOURNAL   Science 325 (5942), 834-840 (2009)
   PUBMED   19608861
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853562.15143.1,
            SRR11853559.14400.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2146411
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000450673.4/ ENSP00000404247.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC217777.1.
            On Dec 3, 2019 this sequence version replaced NM_001039083.4.
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5240
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..5240
                     /gene="ARL17B"
                     /gene_synonym="ARL17; ARL17A"
                     /note="ADP ribosylation factor like GTPase 17B"
                     /db_xref="GeneID:100506084"
                     /db_xref="HGNC:HGNC:32387"
     misc_feature    100..102
                     /gene="ARL17B"
                     /gene_synonym="ARL17; ARL17A"
                     /note="upstream in-frame stop codon"
     CDS             109..642
                     /gene="ARL17B"
                     /gene_synonym="ARL17; ARL17A"
                     /note="isoform a is encoded by transcript variant 1;
                     ADP-ribosylation factor-like protein 17; ADP-ribosylation
                     factor 7; ADP-ribosylation factor-like 17B"
                     /codon_start=1
                     /product="ADP-ribosylation factor-like protein 17 isoform
                     a"
                     /protein_id="NP_001034172.3"
                     /db_xref="CCDS:CCDS58557.1"
                     /db_xref="GeneID:100506084"
                     /db_xref="HGNC:HGNC:32387"
                     /translation="MGNIFEKLFKSLLGKKKMRILILSLDTAGKTTILYKLKLGETVPA
                     VPTVGFCVETVEYKNNTFAVWDVGSHFKIRPLWQHFFQNTKGARSPGSTHQGSLASGVL
                     PIKCSHVEFGMWKGGRSHPFLPHSSRCAGSGGQLDSILPHQSPAWGPWGCKDLSSGFPS
                     FLTSSILWKSAVVK"
     regulatory      797..802
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARL17B"
                     /gene_synonym="ARL17; ARL17A"
                     /note="hexamer: AATATA"
     polyA_site      835
                     /gene="ARL17B"
                     /gene_synonym="ARL17; ARL17A"
                     /note="major polyA site"
ORIGIN
        1 acgcctgtcg tggtttagct gaactgagct gaaatcctaa aggccgcgga gtcggcggtg
       61 ttgtaggtag cggtaccttg agtggcaaca gaattcgatt aaattacaat gggaaacatt
      121 tttgaaaagc tctttaaaag tctacttggg aaaaaaaaga tgcggattct tatattgagt
      181 ttggatacag ctggaaaaac caccatcttg tataaattga agctggggga gactgtgcct
      241 gccgtcccta cagtaggttt ctgtgtggag acagtagaat ataaaaataa caccttcgct
      301 gtctgggatg ttggcagcca cttcaaaatc agacctctgt ggcagcattt tttccagaac
      361 acaaaaggtg ccagaagccc aggaagcaca catcaaggct cacttgccag cggggtgctg
      421 ccaataaaat gtagtcacgt ggaatttgga atgtggaaag gaggtagaag tcatcctttc
      481 ctcccccata gcagcaggtg tgcaggctct ggtggtcagc tggactccat actcccccac
      541 cagtcaccag cctggggacc gtggggctgc aaggacctca gcagcggttt cccaagtttc
      601 ctgacttctt ccatcctctg gaaatcagct gtggtaaagt agcctgaaag ccagtggtgc
      661 aaccccatcc ccacaacctt caccacctct agcacctcca gtgataagca ctaattgcct
      721 atatacaacc cttttttgtt tgaaatatct agagtaattt ctgttttcct atctggggta
      781 gtgtaacata agaagaaata tatatttggt ctctgacccc agttcctaac acaaagctcc
      841 taaaaccctt ggaaattcct gaatgatggc ggtgctaaga gcattgtcct ttgttaattt
      901 atcatttttc ttttctccta ggtgtttttt cctttttaaa ctttcctttt aggttagggg
      961 gtacatatgc acgttcgtta tatagctaaa cttgtgtcat gggggtttgt tgtacagatt
     1021 atttcatcac ccaggtacca agcctagtac ccaatagttt tttctgctcc tctccctcct
     1081 cccaccctcc accctcaggt agggcccagt gtctgttgtt tatgagttct catcattttg
     1141 ctcccactta aaagaacata cagtatttgg ttttctgttc ctgtcttagt ttgctgagga
     1201 taatggcctc tagctccatc tgtgttcctg caaaagacat gatctcgctg ttttttatgg
     1261 ttgcacatct tttgttctaa catttggtcc ttaaacctgg ttcctgacac agagctccta
     1321 aatcccttgg aattttctgg gtgatagaag cgtcctttgt tctcatgagg tgactcttgg
     1381 tgggctcctt atttggggac tggtcaccaa aaagacctat ggttggaagc gttgtgctgt
     1441 cagccccatt ccccatcctc tggcgtgggg agtagagctg gagctcaatc atgcctacgt
     1501 gataaagcct ccagaaaact ccttaaaaga caggacttgg agagcttccg ggttggcgaa
     1561 cacatccatg ttccaggaga gtggtgcacc ccaactccac aaggaccctt ccaaacctca
     1621 ccctgtgtat ctcttcaact ggcttcatca tttgtgtcct ttaaaatatc ctttgtaata
     1681 aatcagcact agtaagaaaa ctgttttcct gggttccatg agctgttcta gcaaatgttc
     1741 aaacctgagg agggagttgt ggggacctcc aatttacagc cagttggtca gatgcatagg
     1801 tgatgcttgg ccttgcacct ggggtctgac atgcggatgg ttctgtgtga ctgagccctt
     1861 aacctgtgga gtctggtgct cactctgctt agggcttctc ttgccttttt agtgtccttc
     1921 taggcggcct ttccttcctc ttgtcagctc agaaaacttt tcttccactt cccttcttct
     1981 aaaccatccc ttacatctac tcctttccag ccgaccaaga gcagaaccac ggctggttcc
     2041 actgccacca tgctgtccca cactgtctcc tcaggatgta ttcagatgtc cagccctccc
     2101 cccagtctag gagccccccc tttgaggaaa gggatgctgg cctagtcaac tctttcccag
     2161 caccaggtac agcatctggc acgttccatc tttttcatgg actctcccca ggcggcctga
     2221 ccttccctcc tctgaaccgg tgcatttctt gtctgcatca tgtttgccct aatcagatat
     2281 caccttattt cctcttttaa aaaatgcttt gtttctctgg caggcttcat cggaatcaca
     2341 attttcattc atttagtaac tgttgttgtt tattctatgt atttttgcag gaggcctgag
     2401 gtgggctgtg ttctcctcct atggcagggc ttcactctcc tcctcctccg ttggggcttc
     2461 gctgtccctg ggataagaat aacaatgcca aggttttcat tcttgaaagg agcaattaag
     2521 cttctcaccc cctcctcatt ttagatggga actgtgaggg ccccatcatt tacccagggt
     2581 ccctgttgag gatcttgtcc tcattagatg acttcttgtg cagcttccat gcatgattat
     2641 ttattcttgt ggcactgaga ggtttgtaca gatctttaaa ccagagcggc tgtccaaatg
     2701 aggaaagtcc atcctagaag atagaaaggg aaatattaat tttgcatgtc ctctgctttc
     2761 cctggccaca gcaatgaatc ctccaatgta cctgactctc ccttcgcgaa gagcatcccc
     2821 tccatggcag aaatctgaaa atgcccctgg ggagacacat gcacaagaca gtgagtgatg
     2881 cagccgtttc ccacgtatct cacaatgtac ttctctggtc ttattaggac taaatgagta
     2941 tctcagtcca taatcacagg gagaaccacc accacagacc acatacccgg ggtcttgaaa
     3001 ataattccat gcatgtggga ctttcagaag ctctccatgt ctgcccagaa gggccccaca
     3061 atatactggg gggactttgt atgtggctca gcatggagca ggggcaggat tttcagtccc
     3121 actcactccc ttggccaagt gcccttgtgc agtgaacaaa ctgcacaacc atgctgggca
     3181 gaagcatttt atatcagtcc ccttcggact tagtctcaca ggcatcattt gatgggggat
     3241 gggagatgaa gtggttcttc gttttctaga tactttattc tataagttgg atcacctcaa
     3301 gcaaatgcgt gagtgcagct agccaagttc tctatctcac agtcttcata tggctggctg
     3361 tcgctgatga gtgagtgagc tacgaaatca gcttaaagca caacatgtta tttttgaatt
     3421 tgaataaaat aggaaaaggc agagtgcatt gtgtgaccat ggggtaagta agacactctc
     3481 cctttctcct tctcagtttt cctgtcataa aaggacaaac tactatctaa ggtctccgta
     3541 gttaaaattc ttttttgttg tttttttttt atttgagaca gtttggctca ttccccaggc
     3601 tggagtgcaa tggtgctatc ttggctccct gcaacctgcg cctcctgggc tcaagcagtt
     3661 ctcctgcctc agcctcccaa gtagctggga ttacacgcct gcgccaccac acccagctaa
     3721 tttagtattt ttagtagaga tggggtttca ccatgttggt caggctggtc acgagctcct
     3781 aacctcaagt gatcccaaag tgctgtgatt acaggcgtga gccatcctgc ctggcctttc
     3841 tggttaaaat tctgtgaggt ttgcataaaa ggaatagagt aggggcccaa aaaccagtaa
     3901 gatgagaaaa tagtgtttcc tcagttctag gatccagggg aaaaaaaaag aaataaaaga
     3961 gaaaatactg tttcctgcca cttaagagga aggactcgca tatcctacct tccatcagcc
     4021 ttgaaggaga caagtgccct ctctctcaca cccggtggcc ttcccttccc ctttcccaga
     4081 gcctccaaga aggcccctgg cctggcctga tgcccaccat cagcagcaat aggcaccaaa
     4141 acctttctcc ttcctatccc tccccacctc ccgaaagggc tggggacagc aggtgtgtcc
     4201 ttgttagttc catccagctc agctttggct ggggagctaa tttcactgga gccaggctaa
     4261 gcattagggt aagtatttgt cctgtcttgg gcagtttcct cactgaaaaa tgagggcaga
     4321 gttctaagcc ctcctctaat tctaaaattc taattaaaac gtcgcgagac tagtggtgca
     4381 tgcctgtaat cccagctact cgggaggctg aggcaggaga atcgcttgaa cctgggaagt
     4441 ggaggttgcc gtgagccgag atcgtgtcat tgcactccag cctggcaaca agagggaaac
     4501 tccatctcaa aagagaagaa aaaaaaaatc accagactaa tatttacctt gagaatcctt
     4561 cttcatcttc ttgtaatgac cttcggtgac aacatatctg ttttagaaga aaacgcaatt
     4621 aagattatct atgacaacaa ccaccatctc caaatctgta ttgattcctt ttattcatta
     4681 taagtctcat gtacctgatg aggtaacttt tttgaagaca ggaattgtat gctgtgtaac
     4741 actgctttga ttcttccata gttcagtcat ccttgctatc ttgcggggga ttggttctag
     4801 gataccgccc ccacaccata ccagaatctg tggatgctca atcccttaca tataatggtg
     4861 taatatttgc ttataaccaa cacgcatccc ccctatactt tatttactta gcgacaggat
     4921 tgccctctgt tgcttacgct ggagtgcagt gtcatcctct gttactcagg atggagtgcg
     4981 gtgtcacgat cacagctcac tgtagcctca acctcctggg ctccagtgat ccgcccacct
     5041 cagcctcttg agtagctgag actacaggtg catactacca cacctggcta tttttttttt
     5101 aatttttaat aaagacaagg tctcactatg ctgcccaggt tggcctccca atgtgttggg
     5161 attacaagtg tgagccacca tgcctggccc catgtaattt aagtcatcac taataaaatg
     5221 tatacatatt gtacattgtt
//
LOCUS       NM_001039111            8704 bp    mRNA    linear   PRI 17-FEB-2023
DEFINITION  Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.
ACCESSION   NM_001039111
VERSION     NM_001039111.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8704)
  AUTHORS   Yuan J, Lv T, Yang J, Wu Z, Yan L, Yang J, Shi Y and Jiang L.
  TITLE     HDLBP Promotes Hepatocellular Carcinoma Proliferation and Sorafenib
            Resistance by Suppressing Trim71-dependent RAF1 Degradation
  JOURNAL   Cell Mol Gastroenterol Hepatol 15 (2), 307-325 (2023)
   PUBMED   36244648
  REMARK    GeneRIF: HDLBP Promotes Hepatocellular Carcinoma Proliferation and
            Sorafenib Resistance by Suppressing Trim71-dependent RAF1
            Degradation.
REFERENCE   2  (bases 1 to 8704)
  AUTHORS   Luptak J, Mallery DL, Jahun AS, Albecka A, Clift D, Ather O,
            Slodkowicz G, Goodfellow I and James LC.
  TITLE     TRIM7 Restricts Coxsackievirus and Norovirus Infection by Detecting
            the C-Terminal Glutamine Generated by 3C Protease Processing
  JOURNAL   Viruses 14 (8), 1610 (2022)
   PUBMED   35893676
  REMARK    GeneRIF: TRIM7 Restricts Coxsackievirus and Norovirus Infection by
            Detecting the C-Terminal Glutamine Generated by 3C Protease
            Processing. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 8704)
  AUTHORS   Foster DJ, Chang HM, Haswell JR, Gregory RI and Slack FJ.
  TITLE     TRIM71 binds to IMP1 and is capable of positive and negative
            regulation of target RNAs
  JOURNAL   Cell Cycle 19 (18), 2314-2326 (2020)
   PUBMED   32816599
  REMARK    GeneRIF: TRIM71 binds to IMP1 and is capable of positive and
            negative regulation of target RNAs.
REFERENCE   4  (bases 1 to 8704)
  AUTHORS   Torres-Fernandez LA, Jux B, Bille M, Port Y, Schneider K, Geyer M,
            Mayer G and Kolanus W.
  TITLE     The mRNA repressor TRIM71 cooperates with Nonsense-Mediated Decay
            factors to destabilize the mRNA of CDKN1A/p21
  JOURNAL   Nucleic Acids Res 47 (22), 11861-11879 (2019)
   PUBMED   31732746
  REMARK    GeneRIF: TRIM71-mediated target recognition and repression
            mechanisms uncovers a role for this stem cell-specific factor and
            oncogene in non-canonical Nonsense-mediated Decay (NMD), revealing
            the existence of a novel mRNA surveillance mechanism which has been
            termed here the TRIM71/NMD axis.
REFERENCE   5  (bases 1 to 8704)
  AUTHORS   Chen Y, Hao Q, Wang J, Li J, Huang C, Zhang Y, Wu X, Lu H and Zhou
            X.
  TITLE     Ubiquitin ligase TRIM71 suppresses ovarian tumorigenesis by
            degrading mutant p53
  JOURNAL   Cell Death Dis 10 (10), 737 (2019)
   PUBMED   31570706
  REMARK    GeneRIF: Ubiquitin ligase TRIM71 suppresses ovarian tumorigenesis by
            degrading mutant p53. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 8704)
  AUTHORS   Wulczyn FG, Cuevas E, Franzoni E and Rybak A.
  TITLE     MiRNA need a TRIM regulation of miRNA activity by Trim-NHL proteins
  JOURNAL   Adv Exp Med Biol 700, 85-105 (2010)
   PUBMED   21627033
  REMARK    Review article
REFERENCE   7  (bases 1 to 8704)
  AUTHORS   Lin YC, Hsieh LC, Kuo MW, Yu J, Kuo HH, Lo WL, Lin RJ, Yu AL and Li
            WH.
  TITLE     Human TRIM71 and its nematode homologue are targets of let-7
            microRNA and its zebrafish orthologue is essential for development
  JOURNAL   Mol Biol Evol 24 (11), 2525-2534 (2007)
   PUBMED   17890240
  REMARK    GeneRIF: Repression of human TRIM71 and the zebrafish lin-41
            ortholog was abolished when predicted let-7 target sites were
            mutated. Regulation of TRIM71 expression by let-7 seems to have been
            evolutionarily conserved.
REFERENCE   8  (bases 1 to 8704)
  AUTHORS   Schulman BR, Esquela-Kerscher A and Slack FJ.
  TITLE     Reciprocal expression of lin-41 and the microRNAs let-7 and mir-125
            during mouse embryogenesis
  JOURNAL   Dev Dyn 234 (4), 1046-1054 (2005)
   PUBMED   16247770
REFERENCE   9  (bases 1 to 8704)
  AUTHORS   Lancman JJ, Caruccio NC, Harfe BD, Pasquinelli AE, Schageman JJ,
            Pertsemlidis A and Fallon JF.
  TITLE     Analysis of the regulation of lin-41 during chick and mouse limb
            development
  JOURNAL   Dev Dyn 234 (4), 948-960 (2005)
   PUBMED   16245339
REFERENCE   10  (bases 1 to 8704)
  AUTHORS   Lee YS, Kim HK, Chung S, Kim KS and Dutta A.
  TITLE     Depletion of human micro-RNA miR-125b reveals that it is critical
            for the proliferation of differentiated cells but not for the
            down-regulation of putative targets during differentiation
  JOURNAL   J Biol Chem 280 (17), 16635-16641 (2005)
   PUBMED   15722555
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ232881.1, DT932675.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000383763.6/ ENSP00000373272.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139452.4, DQ232881.1 and
            AW196612.1.
            On Nov 22, 2018 this sequence version replaced NM_001039111.2.
            Summary: The protein encoded by this gene is an E3
            ubiquitin-protein ligase that binds with miRNAs and maintains the
            growth and upkeep of embryonic stem cells. This gene also is
            involved in the G1-S phase transition of the cell cycle. [provided
            by RefSeq, Dec 2015].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8704
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.3"
     gene            1..8704
                     /gene="TRIM71"
                     /gene_synonym="HYC4; HYDCC1; LIN-41; LIN41"
                     /note="tripartite motif containing 71"
                     /db_xref="GeneID:131405"
                     /db_xref="HGNC:HGNC:32669"
                     /db_xref="MIM:618570"
     CDS             85..2691
                     /gene="TRIM71"
                     /gene_synonym="HYC4; HYDCC1; LIN-41; LIN41"
                     /EC_number="2.3.2.27"
                     /note="homolog of C. elegans Lin-41; tripartite
                     motif-containing protein 71; abnormal cell LINeage LIN-41;
                     protein lin-41 homolog; tripartite motif containing 71, E3
                     ubiquitin protein ligase; RING-type E3 ubiquitin
                     transferase TRIM71"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase TRIM71"
                     /protein_id="NP_001034200.1"
                     /db_xref="CCDS:CCDS43060.1"
                     /db_xref="GeneID:131405"
                     /db_xref="HGNC:HGNC:32669"
                     /db_xref="MIM:618570"
                     /translation="MASFPETDFQICLLCKEMCGSPAPLSSNSSASSSSSQTSTSSGGG
                     GGGPGAAARRLHVLPCLHAFCRPCLEAHRLPAAGGGAAGEPLKLRCPVCDQKVVLAEAA
                     GMDALPSSAFLLSNLLDAVVATADEPPPKNGRAGAPAGAGGHSNHRHHAHHAHPRASAS
                     APPLPQAPQPPAPSRSAPGGPAASPSALLLRRPHGCSSCDEGNAASSRCLDCQEHLCDN
                     CVRAHQRVRLTKDHYIERGPPGPGAAAAAQQLGLGPPFPGPPFSILSVFPERLGFCQHH
                     DDEVLHLYCDTCSVPICRECTMGRHGGHSFIYLQEALQDSRALTIQLLADAQQGRQAIQ
                     LSIEQAQTVAEQVEMKAKVVQSEVKAVTARHKKALEERECELLWKVEKIRQVKAKSLYL
                     QVEKLRQNLNKLESTISAVQQVLEEGRALDILLARDRMLAQVQELKTVRSLLQPQEDDR
                     VMFTPPDQALYLAIKSFGFVSSGAFAPLTKATGDGLKRALQGKVASFTVIGYDHDGEPR
                     LSGGDLMSAVVLGPDGNLFGAEVSDQQNGTYVVSYRPQLEGEHLVSVTLCNQHIENSPF
                     KVVVKSGRSYVGIGLPGLSFGSEGDSDGKLCRPWGVSVDKEGYIIVADRSNNRIQVFKP
                     CGAFHHKFGTLGSRPGQFDRPAGVACDASRRIVVADKDNHRIQIFTFEGQFLLKFGEKG
                     TKNGQFNYPWDVAVNSEGKILVSDTRNHRIQLFGPDGVFLNKYGFEGALWKHFDSPRGV
                     AFNHEGHLVVTDFNNHRLLVIHPDCQSARFLGSEGTGNGQFLRPQGVAVDQEGRIIVAD
                     SRNHRVQMFESNGSFLCKFGAQGSGFGQMDRPSGIAITPDGMIVVVDFGNNRILVF"
     misc_feature    88..90
                     /gene="TRIM71"
                     /gene_synonym="HYC4; HYDCC1; LIN-41; LIN41"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q2Q1W2.1); acetylation site"
     misc_feature    160..231
                     /gene="TRIM71"
                     /gene_synonym="HYC4; HYDCC1; LIN-41; LIN41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Q1W2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    463..651
                     /gene="TRIM71"
                     /gene_synonym="HYC4; HYDCC1; LIN-41; LIN41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Q1W2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1519..1824
                     /gene="TRIM71"
                     /gene_synonym="HYC4; HYDCC1; LIN-41; LIN41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Q1W2.1);
                     Region: Filamin"
     misc_feature    1861..1992
                     /gene="TRIM71"
                     /gene_synonym="HYC4; HYDCC1; LIN-41; LIN41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Q1W2.1);
                     Region: NHL 1"
     misc_feature    2002..2133
                     /gene="TRIM71"
                     /gene_synonym="HYC4; HYDCC1; LIN-41; LIN41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Q1W2.1);
                     Region: NHL 2"
     misc_feature    2143..2274
                     /gene="TRIM71"
                     /gene_synonym="HYC4; HYDCC1; LIN-41; LIN41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Q1W2.1);
                     Region: NHL 3"
     misc_feature    2284..2415
                     /gene="TRIM71"
                     /gene_synonym="HYC4; HYDCC1; LIN-41; LIN41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Q1W2.1);
                     Region: NHL 4"
     misc_feature    2425..2556
                     /gene="TRIM71"
                     /gene_synonym="HYC4; HYDCC1; LIN-41; LIN41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Q1W2.1);
                     Region: NHL 5"
     misc_feature    2566..2688
                     /gene="TRIM71"
                     /gene_synonym="HYC4; HYDCC1; LIN-41; LIN41"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Q1W2.1);
                     Region: NHL 6"
     regulatory      8681..8686
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRIM71"
                     /gene_synonym="HYC4; HYDCC1; LIN-41; LIN41"
                     /note="hexamer: AATAAA"
     polyA_site      8704
                     /gene="TRIM71"
                     /gene_synonym="HYC4; HYDCC1; LIN-41; LIN41"
                     /note="major polyA site"
ORIGIN
        1 actcccccac ccacctcgtc cgctctctcc tcctcctcct cctcttcctc tctggtctcc
       61 tccctcctcc gggctgggtt gcaaatggct tcgttccccg agaccgattt ccagatctgc
      121 ttgctgtgca aggagatgtg cggctcgccg gcgccgctct cctccaactc gtccgcgtcg
      181 tcgtcctcct cgcagacgtc cacgtcgtcg gggggcggcg gcgggggccc tggggcggcg
      241 gcgcgccgcc tacacgtcct gccctgcctg cacgccttct gccgcccctg cctcgaggcg
      301 caccggctgc cggcggcggg cggcggcgcg gcgggagagc cgctcaagct gcgctgcccc
      361 gtgtgcgacc agaaagtagt gctagccgag gcggcgggta tggacgcgct gccttcgtcc
      421 gccttcctgc ttagcaacct gctcgacgcg gtggtggcca ctgccgacga gccgccgccc
      481 aagaacgggc gcgccggcgc tccggcggga gcgggcggcc acagcaacca ccggcaccac
      541 gctcaccacg cgcacccgcg cgcgtccgcc tccgcgccgc cactcccgca ggcgccgcag
      601 ccgcccgcgc cttcccgctc ggcacccggc ggccctgccg cttccccgtc ggcgctgctg
      661 ctccgccgtc ctcacggctg cagctcgtgc gatgagggca acgcagcttc ttcgcgctgc
      721 ctcgactgcc aggagcacct gtgcgacaac tgcgtccgag cgcaccagcg cgtgcgcctc
      781 accaaggacc actacatcga gcgcggcccg ccgggtcccg gtgccgcagc agcggcgcag
      841 cagctcgggc tcgggccgcc ctttcccggc ccgcccttct ccatcctctc agtgtttccc
      901 gagcgcctcg gcttctgcca gcaccacgac gacgaggtgc tgcacctgta ctgtgacact
      961 tgctctgtac ccatctgtcg tgagtgcaca atgggccggc atgggggcca cagcttcatc
     1021 tacctccagg aggcactgca ggactcacgg gcactcacca tccagctgct ggcagatgcc
     1081 cagcagggac gacaggcaat ccagctgagc atcgagcagg cccagacggt ggcggaacag
     1141 gtggagatga aggcgaaggt tgtgcagtcg gaggtcaaag ccgtgacggc gaggcataag
     1201 aaagccctgg aggaacgcga gtgtgagctg ctgtggaagg tagaaaagat ccgccaggtg
     1261 aaagccaagt ctctgtacct gcaggtggag aagctgcggc aaaacctcaa caagcttgag
     1321 agcaccatca gtgccgtgca gcaggtcctg gaggagggta gagcgctaga catcctactg
     1381 gcccgagacc ggatgctggc ccaggtgcag gagctgaaga ccgtgcggag cctcctgcag
     1441 ccccaggaag acgaccgagt catgttcaca ccccccgatc aggcactgta ccttgccatc
     1501 aagtcttttg gctttgttag cagcggggcc tttgccccac tcaccaaggc cacaggcgat
     1561 ggcctcaagc gtgccctcca gggtaaggtg gcctccttca cagtcattgg ttatgaccac
     1621 gatggtgagc cccgcctctc aggaggcgac ctgatgtcgg ctgtggtcct gggccctgat
     1681 ggcaacctgt ttggtgcaga ggtgagtgat cagcagaatg ggacatacgt ggtgagttac
     1741 cgaccccagc tggagggtga gcacctggta tctgtgacac tgtgcaacca gcacattgag
     1801 aacagccctt tcaaggtggt ggtcaagtca ggccgcagct acgtgggcat tgggctcccg
     1861 ggcctgagct tcggcagtga gggtgacagc gatggcaagc tctgccgccc ttggggtgtg
     1921 agtgtagaca aggagggcta catcattgtc gccgaccgca gcaacaaccg catccaggtg
     1981 ttcaagccct gcggcgcctt ccaccacaaa ttcggcaccc tgggctcccg gcctgggcag
     2041 ttcgaccgac cagccggcgt ggcctgtgac gcctcacgca ggatcgtggt ggctgacaag
     2101 gacaatcatc gcatccagat cttcacgttc gagggccagt tcctcctcaa gtttggtgag
     2161 aaaggaacca agaatgggca gttcaactac ccttgggatg tggcggtgaa ttctgagggc
     2221 aagatcctgg tctcagacac gaggaaccac cggatccagc tgtttgggcc tgatggtgtc
     2281 ttcctaaaca agtatggctt cgagggggct ctctggaagc actttgactc cccacggggt
     2341 gtggccttca accatgaggg ccacttggtg gtcactgact tcaacaacca ccggctcctg
     2401 gttattcacc ccgactgcca gtcggcacgc tttctgggct cggagggcac aggcaatggg
     2461 cagttcctgc gcccacaagg ggtagctgtg gaccaggaag ggcgcatcat tgtggcggat
     2521 tccaggaacc atcgggtaca gatgtttgaa tccaacggca gcttcctgtg caagtttggt
     2581 gctcaaggca gcggctttgg gcagatggac cgcccttccg gcatcgccat cacccccgac
     2641 ggaatgatcg ttgtggtgga ctttggcaac aatcgaatcc tcgtcttcta attgcatttc
     2701 ctaggtttct gtgtttgggg tgtgtgtgcg tgtctctctc tctctctctc tctttctctt
     2761 tctctctctt tttgaatttc aaagaagaaa cagtctcagg gaaatttctt ttttcttttt
     2821 tttttttaaa gagaacaaga aaagtacaac attgcttaag tcctacctca tctttatttt
     2881 tttacagatg aatgtactta tcttttctgc agggattgag cctgtgaagt gataatttct
     2941 atctacctca taaatcttta catttccttc tgcaacaggc cctcttcccc tcctcagtgg
     3001 agtttgcatt tccctcttcc cctgcgtggg gcatgatatg cacaagcctg gcatctgtat
     3061 ggctgggagg gcactggatg tgtgtggtgg ggtgtattct gtagattgag ccaaggaaac
     3121 acaaaaaaaa actactaagt aaaaaaacaa aaaactataa aacatggaaa aaataggatt
     3181 tgaaatgcat aattatagaa tacctgtgtt cttgagaata ctgtttatat ggggtttaga
     3241 ttatgttgtg ttgttttgat ctttttggaa aatcttctct ttttaaatgc tgcaacagag
     3301 aaatttcctc tgttctctgt ttatacctca gtgtgtttaa catcctcttc tgcatcgttt
     3361 cttgatctta gacgttgtgg ctgtggcttg ctagccaaga aaagcagacc cttcatattt
     3421 tagggtatat aatctttgtt tcttttaagg gagggtgtgt gcatgtttgt ttcaaagcca
     3481 tcttgcaccc aagtagtaaa gctgaaaatg acacactgcc tcccaaagaa cctctccttt
     3541 tcacactttg gtttcttaaa aaagtatata gatggtagct caggattttt gattaaacat
     3601 attctcaaaa gttatgcttt cttattttgc tgttaggtta taaagggtta aatggaagga
     3661 aaaaggaaat taacctcgtt ctcagagaga gggttttcag gcatgggctg acgtggacat
     3721 gaatgtgggt ggacatgcgt gtgctgaggg agtcagggag cacattaaag aacaaggcac
     3781 ccccaaacta taggaactcc acagaaaggg cagggtctgc cctgacccgc gagtgcatgt
     3841 tgttctgtag tgctaggggt ttcttttcct aagaagagta ggcaaaggaa agaactttta
     3901 ttttacaagc acaatttttt cctgctttga aagttcaggg aaatagaagg tttgaaagtc
     3961 aaattaatac caacagccca gtcccacacc ctctgcttgg gtcacttttt ataggattgt
     4021 ttgcacccag gccatgcttt aggacctcat ggttaacatg aatccccccg ccccctctcc
     4081 ccccaaggcc tttgaccata aaggatctag aaaccaaatt gtcccaacct gaaatgtagg
     4141 atgtaatgtc ttttcttaaa cctgtaactc ggtaccaaag aatgaaaatt taaggctccc
     4201 actgcagaac tgtggggtag aatctgtgtc actttacagg attggttggt tgtaagctgg
     4261 acttgggtac aaaacttgtg cttctgggca ttgtctgtct ttcaagtgca aagcagatgt
     4321 agctgatacc ctgcttgtca gaacccagtg ggttcctgca atgccccaaa tactgaaata
     4381 agaaccaaat tctggaggag ccctcctcag ggaaaagagg gactctcaaa caaacgtcag
     4441 tgacttacaa gggagacctc ttgtttaaag acttatggat caacttctgt tcctctgttt
     4501 aagagaaatt tctattgcaa aatgggtatc gttttaaatg agcagaacag attaacaaat
     4561 ggagcaattt gtttctgtta tcccaataga aaaggagatg atggggacag tgtgacaagt
     4621 caatcaagtt gcttttcccg tacacctctt ttggacgttt aatttactac tactacaagc
     4681 tactctgtct cttcccattg ctttaattct agggtttctg agtgaccaaa atgggaagga
     4741 aaaaaaaaac ctcatctcac agaggagaac tgcatgcaat aaaagattca aaagttggaa
     4801 agtagcttca aactgctgct ggctcccagc tgctgttaca gggtgggaag gtgttaggaa
     4861 atgttgtttg ttagaagctc cttttactgt agaatttaat agtgaatcct tccccaatgc
     4921 ctattcagtt gccttttggc cgttaagctc taagttcttt ggtaaagagt taatataatt
     4981 aaacattttt actgttttct attttggagt aacttggtgc tgatcttcct tccctttccc
     5041 cagctgccca acaagccacc ctttaaacac caaagacaac tggttttaaa tgcttgaaaa
     5101 aaattttatt gaggagatgg atcttgatta aaatcttttc atcatcattt tcattctgct
     5161 cttttctttc taatttcccc agatgtagga aaattttggg acctgaatga gaaatgttct
     5221 tggtgcataa cagtaactag agctccttat ttgacatttt actatggatg tgatcgaaaa
     5281 gccaagattt tcgctccatg gctgaaatta tcaggtctta atttacagac ttgtaaattt
     5341 gcaggcttag agcaactaga actatcccct gaaataggtg tgtaggtcag agatactacc
     5401 tctttgtcct cagtggtggt atatctatct ccttaccttt ctgtacccaa aatggtgcat
     5461 gactggtatt tgagaaacat ggtcacattt ggaaagcttt tgtttttaaa acattggcgg
     5521 tttttcctgc ccgtggttga ctcctgaccc atagggattg gtgcgaagca ctttggagag
     5581 tgtttattgt atgatgtgaa atgttctaaa tcaaagaaag atgataaaag ccaacatttg
     5641 gcagtcccta gtgtgaaact gtgaaaagta cctgtgttta aatgcataat ctcctgcccg
     5701 ggtaatgcca ggtagccagg agttgggtca aagaagggag tcgtcatcct gatggaaaaa
     5761 ataaggtcct gggtattatg aggtaggaga ataaaaaggt ttctggggag taagtatgac
     5821 aattactagt ccccatggag gtctgatctg gtcaggtggc aagggttggg tggggtatga
     5881 tgtaagctca gtttatgtgt ggagatgccc attgggtttg gatatatagg tttgagtatt
     5941 gagatgttta aaggacatct aacccatagg taaaaactac ttttgcttga cactgactta
     6001 acatttcaaa agtgttattt ttggtcccaa gatctaatgc tgtctcagaa catgtgccct
     6061 gttgtggctg caagtggcac tcaagttgac tagagcacag tgacctgggt tgtaccccaa
     6121 gtgcactaac tcctcaatgc ccttttaagt ctaacttatt tgggaaacac ataacaaagg
     6181 gtaccataaa ccgaatccaa attacgtgtt gggccaaaaa tgttgccaga actgaggcac
     6241 tttgtgatgg agttgcaaga gatagcttga gatcggctca gtctgattta ttctagttaa
     6301 gccaaagctt aattatttga ggaggaaagt cttttaggct tgaagcagca aaatactgtt
     6361 tatatatgtg ttaccttcct cgttggaaga ttctacgatt gctctgttct ggtaggtggt
     6421 gaaagatatg ccaaagtttt aggcttgttt ttctgatctt atttttttaa tccagtggtg
     6481 ccaaaaagta tttagggtat gtttaaggta tatttaaaac atcactctga atgagtttcc
     6541 aacagtctgg ggctgtataa aagtcacact cttgtacttg caggtgatgg tgtcacaggg
     6601 ccagggcctc cagagctcta cggctttctc tggttttcta tagggccaag ggcacaggac
     6661 gcagcattcc agaccacact gactgctttt gctgagtttc tacctcactt gtggcaagtc
     6721 atctacctca tgttagcatc tgacaggtct caaaaagaat agtattaatc cagtgggcag
     6781 tgggtgggag tgggaagcta cctctaaaag aaatgttacc ataaatctac aactgatttc
     6841 tcccaggaga aatgttctac ttaccttgaa agagaaatgt caggcaaatg tagtcataaa
     6901 tccaagtagt tcttagcaat ctggcttttc cccctcaaaa agaattatgc ataccattac
     6961 tgttgttcag tattatgaaa ctactggtta atctgaccta ttggaggact taactacaaa
     7021 taaagacctt taggtctctt tctcttcaag agaaaaatat tttatctgta tttcgaatgt
     7081 ctgcaaataa taccctttag gagcaattct aaaggtctag atcttggaaa catcaaatat
     7141 ttgaagggaa tgagaatcct cttgacttca tgattgtatt tgtagctctc tggacccggc
     7201 aggacgttca tcaccatgat gttgcaacaa tcactgtttt gactgagcag tgactgttga
     7261 agtgtgtatt gctcttttgt tttgttttta tttttttcta ccaaaggtaa catgttgacg
     7321 ggtttttttt ttccttgttt attaaatact tgataaagtt gagaagcaca ttaccaggat
     7381 atactgtatt gaccctccca cctctcttct gccctaattt ttggttgttt ggaagagagg
     7441 agggtcctaa gaccactgtc attatcatga ggggcttata aatgtcatgg tgaagaaata
     7501 cctcaatgat gtctattttt aaaactgatc ttacgggtta acaagccagc ctggtgggat
     7561 attttccatc atcatttaac caataatggt tctaaaagtt ttgtgtatcc acatggtctt
     7621 agacctcctt ttaatgattg tattaactta caagctcagg tagtattttt cttaagactc
     7681 tatctcagag cacactgact gaatgttgat gtgtgtagca aagtgtttac tttctttaaa
     7741 taaccagctc tgtaactctg taagttcttt gtgtttctag cagtctgtgt agttgtcttt
     7801 cttcagagga agatttttca catttctggg gttttcttgc ttttagggtg gtaagattcc
     7861 tttctttttt tcccttttct cctaaaatcg atgcaggtaa gggtgggtgg gtaaggggtg
     7921 ttgtttttta actagcatgt tagttatact tgggtgggtg ggagggttgt taaactgaat
     7981 cttgcttaat actgtccatt agctctcatg ccgggtcagc aaaatgcttt aatttttaac
     8041 tgcagaacat gtgactcggt tgagtctttt tgtctttttt ttttttaaat aaacaattgg
     8101 gggaattaat gtgggcaagt tgccttatgt tagaatgact aagttaaacc tcttaatttg
     8161 tatttgtcca aggcagacat gatataagga atatgcacta ccgtagtaac tcccctggcc
     8221 gcagaaacca cactgcaagc ctgtccgggg tggggtgctg actgccattt gccactttta
     8281 aatgggcact gccgtggtaa tgtgaatccc atcaatgcag tagatgggtg gggaaatgaa
     8341 gatttccccc caaaccttta ggcaaaagtg agtttttgtt tggttgattt tgggtttttt
     8401 tcccccctcc tcttttggct ttcacatttt aaatcttaaa tgttactatt gcaggccgca
     8461 ggcatgacag gcaatgagca ggtgaagaac caatggaaaa gtgttcaaaa actcctgtgt
     8521 tagctaacag gcttctgaat gtatcactgt ggtccacaga gaaggctgga ggaggtagca
     8581 aggagatgct gtatcagcta ctacagcctt aaaacaaagt tggtgtctct ttggacttta
     8641 aaattgttcc tatgcagctt attttatttt tgtttaatca aataaacgag ggtttttcca
     8701 tggc
//
LOCUS       NM_001039112            6051 bp    mRNA    linear   PRI 21-DEC-2022
DEFINITION  Homo sapiens fer-1 like family member 6 (FER1L6), mRNA.
ACCESSION   NM_001039112
VERSION     NM_001039112.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6051)
  AUTHORS   Ichikawa S, Koller DL, Padgett LR, Lai D, Hui SL, Peacock M, Foroud
            T and Econs MJ.
  TITLE     Replication of previous genome-wide association studies of bone
            mineral density in premenopausal American women
  JOURNAL   J Bone Miner Res 25 (8), 1821-1829 (2010)
   PUBMED   20200978
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: AB196633.1 [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2159080 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000522917.5/ ENSP00000428280.1
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011134.15, AB196633.1, DW010047.1, AC100871.2 and DV080599.1.
            On Dec 8, 2006 this sequence version replaced NM_001039112.1.
FEATURES             Location/Qualifiers
     source          1..6051
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.13"
     gene            1..6051
                     /gene="FER1L6"
                     /gene_synonym="C8ORFK23"
                     /note="fer-1 like family member 6"
                     /db_xref="GeneID:654463"
                     /db_xref="HGNC:HGNC:28065"
     misc_feature    150..152
                     /gene="FER1L6"
                     /gene_synonym="C8ORFK23"
                     /note="upstream in-frame stop codon"
     CDS             207..5780
                     /gene="FER1L6"
                     /gene_synonym="C8ORFK23"
                     /note="fer-1-like 6"
                     /codon_start=1
                     /product="fer-1-like protein 6"
                     /protein_id="NP_001034201.2"
                     /db_xref="CCDS:CCDS43767.1"
                     /db_xref="GeneID:654463"
                     /db_xref="HGNC:HGNC:28065"
                     /translation="MFGLKVKKKRNKAEKGLILANKAAKDSQGDTEALQEEPSHQEGPR
                     GDLVHDDASIFPVPSASPKRRSKLLTKIHDGEVRSQNYQIAITITEARQLVGENIDPVV
                     TIEIGDEKKQSTVKEGTNSPFYNEYFVFDFIGPQVHLFDKIIKISVFHHKLIGSVLIGS
                     FKVDLGTVYNQPGHQFCNKWALLTDPGDIRTGTKGYLKCDISVMGKGDVLKTSPKTSDT
                     EEPIEKNLLIPNGFPLERPWARFYVRLYKAEGLPKMNSSIMANVTKAFVGDSKDLVDPF
                     VEVSFAGQMGRTTVQKNCADPVWHEQVIFKEMFPPLCRRVKIQVWDEGSMNDVALATHF
                     IDLKKISNEQDGDKGFLPTFGPAWINLYGSPRNHSLMDDYQEMNEGFGEGVSFRGRILV
                     EIAVEILSGRAQESKFSKALKELKLPSKDKDSKSSKGKDKADKTEDGKSQQASNKTNST
                     EVEVESFDVPPEIVPEKNEEFLLFGAFFEATMIDRKIGDKPISFEVSIGNFGNLIDGGS
                     HHGSKKSAESAEEDLLPLLHEGQGDVAHDVPIPMASTTHPEKPLVTEGNRNYNYLPFEA
                     KKPCVYFISSWGDQTFRLHWSNMLEKMADFLEESIEEVRELIKISQEAPEEKMKTVLSD
                     FISRSSAFISEAEKKPKMLNQTTLDKKRLTLCWQELEAMCKEAKGIIQQQKKKLSVDEM
                     IHEAQNFVEKIRFLVDEPQHTIPDVFIWMLSNNRRVAYARIASKDLLYSPVAGQMGKHC
                     GKIKTHFLKPPGKRPAGWSVQAKVDVYLWLGSIKHASAILDNLPVGYEAEMSSKGAGTN
                     HPPSNLLYQEQHVFQLRAHMYQARGLIAADSNGLSDPFAKVTFLSHCQTTKIISQTLSP
                     TWNQMLLFNDLVLHGDVKELAESPPLVVVELYDSDAVGKPEYLGATVAAPVVKLADQDY
                     EPPRLCYHPIFCGNLSGGDLLAVFELLQVPPSGLQGLPPVEPPDITQIYPVPANIRPVL
                     SKYRVEVLFWGVREMKKVQLLSVDRPQALIECGGQGVKSCVIQSYKNNPNFSIQADAFE
                     VELPENELLHPPLSICVVDWRAFGRSTLVGTYTINYLKQFLCKLREPLAPITQVDGTQP
                     GHDISDSLTATESSGAHSSSQDPPADHIYVDVEPPPTVVPDSAQAQPAILVDVPDSSPM
                     LEPEHTPVAQEPPKDGKPKDPRKPSRRSTKRRKRTIADESAENVIDWWSKYYASLKKAQ
                     KAKERNPKGKKGNTEAKPDEVVVDIEDGPKKKKDKMLKKKPKDDGIPNLAILQIYDGDL
                     ESEFNNFEDWVKTFELFRGKSTEDDHGLDGDRVIGKFKGSFCIYKSPQDSSSEDSGQLR
                     IQQGIPPNHPVTVLIRVYIVAAFNLSPADPDGKSDPYIVIKLGKTEIKDRDKYIPKQLN
                     PVFGRSFEIQATFPKESLLSILIYDHDMIGTDDLIGETKIDLENRFYSKHRAICGLQSQ
                     YEIEGYNAWRDTSKPTEILTKLCKDNKLDGPYFHPGKIQIGNQVFSGKTIFTEEDTDET
                     VESYEHLALKVLHSWEDIPEVGCRLVPEHIETRPLYHKDKPGMEQGRLQMWVDMFPKDM
                     PQPGPPVDISPRRPKGYELRVTIWNTEDVILEDENIFTGQKSSDIYVKGWLKGLEDDKQ
                     ETDVHYNSLTGEGNFNWRFLFPFQYLPAEKQMVITKRENIFSLEKMECKTPAVLVLQVW
                     DFERLSSDDFLGTLEMNLNSFPRAAKSAKACDLAKFENASEETKISIFQQKRVRGWWPF
                     SKSKELTGKVEAEFHLVTAEEAEKNPVGKARKEPEPLAKPNRPDTSFSWFMSPFKCLYY
                     LIWKNYKKYIIIAFILIILIIFLVLFIYTLPGAISRRIVVGS"
     misc_feature    249..395
                     /gene="FER1L6"
                     /gene_synonym="C8ORFK23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2WGJ9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1482..1613
                     /gene="FER1L6"
                     /gene_synonym="C8ORFK23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2WGJ9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3507..3650
                     /gene="FER1L6"
                     /gene_synonym="C8ORFK23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2WGJ9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3687..3815
                     /gene="FER1L6"
                     /gene_synonym="C8ORFK23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2WGJ9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3876..3944
                     /gene="FER1L6"
                     /gene_synonym="C8ORFK23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2WGJ9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5679..5741
                     /gene="FER1L6"
                     /gene_synonym="C8ORFK23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2WGJ9.2);
                     transmembrane region"
ORIGIN
        1 tggtgaggtt gcctgtaact gacttcaaaa ggccattcca ccattccgtc aagccagctg
       61 ctttagaacg gttgggaaca ccgtgagacc agtgaattcc acgagcacga acccactgct
      121 gcgcttcatt tgctgtgaag tgagtccctt gatcagagca atgctgtgtg gaccatcgtg
      181 aaggtggaca aggcatttta aaggggatgt ttgggctgaa ggtgaagaag aagagaaata
      241 aggcagagaa ggggttaatc ctagccaaca aggctgcgaa agatagtcaa ggtgacactg
      301 aagcactgca ggaggagcct tctcaccagg aaggaccgag aggagatttg gtccatgatg
      361 atgcttctat ctttcctgtc ccctcagctt ctccaaagag aagatcaaaa ctgttgacta
      421 agatccatga tggggaggtc agatcccaaa attatcaaat tgccataacc atcaccgagg
      481 ctcgccagct ggtgggtgag aacattgacc cagttgtgac cattgagatt ggggatgaga
      541 agaagcaaag cacagtgaag gaaggaacca acagcccatt ttataatgaa tactttgtct
      601 tcgacttcat tgggccccaa gtgcatcttt ttgacaagat catcaaaatc tccgtctttc
      661 accacaagct gataggaagt gtactgattg gctctttcaa agtagacctg gggaccgtgt
      721 acaaccaacc tggtcatcag ttctgcaaca agtgggccct gctcacagac cctggtgaca
      781 tcaggactgg caccaagggg tacctgaaat gtgacatcag tgtcatggga aaaggtgatg
      841 tcttgaagac cagccctaaa acttctgaca ccgaggagcc aatagaaaag aaccttttga
      901 tccccaatgg gtttccactg gagagaccgt gggccagatt ctatgtgaga ctctacaaag
      961 cagaagggtt gcccaaaatg aattcaagca tcatggcgaa cgtcaccaag gcatttgtgg
     1021 gtgacagtaa ggacctggtg gatccctttg tggaggtctc ctttgctggg cagatggggc
     1081 gaaccacagt gcagaagaac tgtgctgatc ctgtgtggca tgaacaggtg atcttcaagg
     1141 aaatgttccc tcccttgtgt cggagggtga aaatccaggt gtgggatgaa ggcagcatga
     1201 atgacgtagc cctggcaacc catttcattg acctgaagaa aatctccaac gaacaggatg
     1261 gagacaaagg ctttctgccc acctttgggc ctgcctggat taacctgtat ggctcgccca
     1321 ggaaccacag tctgatggat gactaccagg aaatgaacga aggctttggg gaaggtgtgt
     1381 cattcagggg cagaatcttg gtagaaattg ctgtggaaat cctctcagga cgggcacagg
     1441 aatctaaatt ttccaaggcc ctgaaggagc tcaagttgcc ttccaaggac aaagactcca
     1501 aatcttccaa aggtaaagac aaggctgaca aaactgaaga tggaaaatcc caacaggctt
     1561 caaacaaaac taactcaacc gaggtggagg tggaatcgtt cgatgtcccc ccggagattg
     1621 taccagaaaa aaatgaggaa tttttactct ttggagcatt ttttgaagct accatgattg
     1681 accggaagat tggagataaa cccatcagct ttgaagtttc tattggtaat tttggaaacc
     1741 tgattgatgg aggatcccat catgggagta agaagtcagc tgaatcagct gaagaagacc
     1801 tccttccact gcttcacgaa gggcaagggg atgtggccca tgatgttccc attcctatgg
     1861 cctccaccac tcacccggag aagccactgg tgacagaagg gaacaggaat tacaactatt
     1921 tgccatttga ggctaagaag ccctgtgtct atttcatcag ctcttgggga gaccagacct
     1981 tcaggctgca ctggtccaac atgctggaga aaatggcaga cttcctggaa gaaagtatag
     2041 aagaagtgag agaattgatc aagatttcac aggaggcacc tgaagagaaa atgaaaacag
     2101 tgctcagtga cttcatcagt cggagcagtg cctttatctc tgaagcagaa aaaaagccca
     2161 agatgttgaa ccaaaccact ttagataaga agcgacttac gctctgctgg caggagctgg
     2221 aagcaatgtg caaggaggcc aaggggatca ttcagcagca gaagaaaaag ttatctgttg
     2281 atgaaatgat tcacgaagcc caaaactttg tggaaaaaat ccgctttctt gttgatgagc
     2341 cccagcacac tatccctgac gttttcatct ggatgctcag caacaacagg agagtggcct
     2401 atgcccgcat cgcctccaaa gacctcctct attcccctgt cgcggggcag atgggcaaac
     2461 actgcggcaa gatcaaaact cacttcctca aacctcctgg gaaacgaccg gctggttggt
     2521 ctgtgcaagc aaaagtcgac gtgtacctgt ggctgggctc catcaagcat gccagtgcca
     2581 ttttggacaa cttgccagta ggctatgaag cagaaatgtc ctccaaaggg gctggcacca
     2641 atcacccccc atctaacctg ctctaccaag aacagcatgt ttttcagctg agggctcaca
     2701 tgtaccaagc ccggggcctc atcgcagctg acagcaatgg actttcagac ccttttgcca
     2761 aagtcacgtt cctttctcac tgccagacaa caaagataat ctcccagacc ctctctccga
     2821 cctggaacca gatgctgctg ttcaatgatt tggtgctgca tggagatgtg aaggagctgg
     2881 cagagtcccc gcccttagtg gtggtggagc tgtatgacag cgacgctgtg gggaagccag
     2941 aatatttggg tgccacagtg gctgctcctg ttgtgaagct ggctgaccag gactatgagc
     3001 cccccaggtt atgctatcac cccatctttt gtgggaatct ctctggaggg gatctccttg
     3061 ctgtatttga actgctgcag gttcctcctt ctgggctgca aggcctccca cccgttgagc
     3121 caccagacat cacccagatc tacccggttc ctgccaacat tcggccggtg ctgagcaaat
     3181 accgagtgga ggttctcttc tggggagttc gggaaatgaa gaaggtgcag ctcctctctg
     3241 tggatcggcc tcaggctctc attgagtgcg gaggacaagg tgtgaagtcc tgcgtgatcc
     3301 agagctacaa gaacaacccg aacttcagca tccaggcaga cgctttcgaa gtggaactgc
     3361 ctgagaacga gcttctgcac ccgccactga gcatctgcgt ggtggactgg agagcttttg
     3421 ggaggagtac ccttgtgggc acctacacca tcaactactt gaagcagttt ttgtgtaaac
     3481 tcagagagcc ccttgccccc atcacacagg tggatggaac ccagcctggg cacgatattt
     3541 cagattcgct aacagccact gagtcctctg gagcccacag ctcctcccag gatcccccag
     3601 cagatcacat ttatgtggat gttgagccac ctcccacagt ggtgcccgac tctgcccagg
     3661 cccagccggc catcctggtt gacgtccctg actcatcccc gatgctggag cctgaacaca
     3721 cacctgtagc ccaggagcca ccaaaagatg gaaaacctaa ggatcccagg aagccttccc
     3781 ggaggtccac taagaggaga aagaggacca tagcagatga atctgctgaa aacgtgattg
     3841 actggtggtc taagtattat gcctccctga agaaagccca gaaggcaaag gagagaaatc
     3901 ccaagggaaa aaaaggcaat acagaggcaa agccagatga ggtagtggta gatatagaag
     3961 atgggccaaa gaagaagaaa gacaaaatgc tcaagaagaa acccaaagat gatggaatcc
     4021 ccaacctggc catcttgcag atatatgacg gtgatctcga gagtgaattc aacaattttg
     4081 aagactgggt gaaaactttt gagctcttca gaggcaagtc tacggaagat gaccatggtc
     4141 ttgatggaga ccgagtcata ggaaaattta agggctcctt ctgcatctac aaaagccccc
     4201 aggattctag ctctgaggac agcgggcagc tgagaatcca gcaagggatt ccgcccaatc
     4261 accctgtcac agtgctgatc agagtataca ttgtcgcggc atttaatctt agtccagctg
     4321 atccagatgg caaatcagat ccctacattg tgatcaagct tggcaagaca gaaatcaaag
     4381 accgggataa atacatccct aaacaactga acccagtatt tggaaggtca tttgagatcc
     4441 aagccacatt cccaaaagag tccctgctct ccatcctgat ctatgaccat gacatgattg
     4501 gcacagatga ccttattggt gagaccaaga tcgacctgga gaaccgcttc tacagcaaac
     4561 accgagccat ctgtggcttg cagagccagt atgagataga aggatacaat gcctggagag
     4621 acacgtccaa acccaccgaa atcctcacta agctctgcaa agacaacaag ctggatggac
     4681 cctactttca ccctgggaaa atacagatag gaaaccaagt cttttctgga aaaactatct
     4741 tcactgaaga ggacactgat gagacagtgg agtcttatga acacctggcc ctcaaggttt
     4801 tacactcttg ggaggatatc ccggaagtcg ggtgtaggct ggttcctgaa cacatagaaa
     4861 ctcggccact gtaccacaag gataagccag gaatggagca gggccgcctg cagatgtggg
     4921 tggacatgtt tcccaaggat atgcctcaac ctggacctcc tgttgacatc tctccaaggc
     4981 gacccaaagg atacgaattg agagtgacca tctggaacac tgaagatgtc attttagagg
     5041 atgagaatat cttcacaggc caaaaatcaa gtgatattta tgtgaaaggg tggttaaagg
     5101 gcttggagga tgacaagcag gagacagatg tgcattacaa ctccctgact ggagagggca
     5161 acttcaactg gcgcttcctg tttccctttc agtatctccc agctgagaag caaatggtca
     5221 ttaccaagag ggagaacatc ttctctttag agaagatgga gtgtaagact cctgctgtgt
     5281 tggtgctgca ggtttgggat tttgaaaggc tgtcctcaga tgacttcctg ggcaccctgg
     5341 aaatgaacct caacagtttc cctcgagcag ctaagtctgc caaagcctgt gatcttgcca
     5401 agtttgaaaa tgcaagtgag gagaccaaga tctctatatt ccagcaaaaa cgtgtgcgtg
     5461 gctggtggcc tttttctaaa agcaaagaac tcacaggcaa ggttgaagct gagttccacc
     5521 tagttacagc agaagaagct gagaaaaatc ctgttggaaa agcccgaaag gagccagagc
     5581 ccctggccaa gcccaaccgc ccagacacct ccttttcgtg gttcatgagc ccctttaagt
     5641 gcctgtacta cctcatctgg aagaattaca aaaagtacat catcattgct ttcattctca
     5701 tcatcctcat catcttcctc gtccttttca tctacacctt gccaggagcc atcagccgaa
     5761 ggatcgttgt gggctcatag aggatcatgg aggacccaga tcctcgccat atactaatcc
     5821 tctcttcctt atctgggagc atctaagaac atgtcccatg catggcactg tgctgagtgc
     5881 taaggggaca gatcaaccct tcttggaaga gatggaaaag aaacatttcc tccctgctcc
     5941 aacccctgcc tccaagtttc aaacttgtaa ggcatgtttt atcccttggg cagcatgaaa
     6001 taaggcactt tcacctcatg gtaatcaaca atgacctcaa attgacttag a
//
LOCUS       NM_001039127            3647 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 718 (ZNF718), transcript variant 1,
            mRNA.
ACCESSION   NM_001039127
VERSION     NM_001039127.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3647)
  AUTHORS   Xu J, Zheng SL, Isaacs SD, Wiley KE, Wiklund F, Sun J, Kader AK, Li
            G, Purcell LD, Kim ST, Hsu FC, Stattin P, Hugosson J, Adolfsson J,
            Walsh PC, Trent JM, Duggan D, Carpten J, Gronberg H and Isaacs WB.
  TITLE     Inherited genetic variant predisposes to aggressive but not indolent
            prostate cancer
  JOURNAL   Proc Natl Acad Sci U S A 107 (5), 2136-2140 (2010)
   PUBMED   20080650
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.11554.1,
            SRR1660803.108281.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000510175.6/ ENSP00000480556.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA386535.1, BC104027.2, AL833758.1, AC253576.2, CA411757.1 and
            N73572.1.
            On Nov 22, 2018 this sequence version replaced NM_001039127.5.
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3647
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..3647
                     /gene="ZNF718"
                     /note="zinc finger protein 718"
                     /db_xref="GeneID:255403"
                     /db_xref="HGNC:HGNC:26889"
     misc_feature    159..161
                     /gene="ZNF718"
                     /note="upstream in-frame stop codon"
     CDS             171..1607
                     /gene="ZNF718"
                     /note="isoform a is encoded by transcript variant 1"
                     /codon_start=1
                     /product="zinc finger protein 718 isoform a"
                     /protein_id="NP_001034216.2"
                     /db_xref="CCDS:CCDS75078.1"
                     /db_xref="GeneID:255403"
                     /db_xref="HGNC:HGNC:26889"
                     /translation="MELLTFKDVAIEFSPEEWKCLDTSQQNLYRDVMLENYRNLVSLGV
                     SISNPDLVTSLEQRKEPYNLKIHETAARPPAVCSHFTQNLWTVQGIEDSFHKLIPKGHE
                     KRGHENLRKTCKSINECKVQKGGYNRINQCLLTTQKKTIQSNICVKVFHKFSNSNKDKI
                     RYTGDKTFKCKECGKSFHVLSRLTQHKRIHTGENPYTCEECGKAFNWSSILTKHKRIHA
                     REKFYKCEECGKGFTRSSHLTKHKRIHTGEKPYICEKCGKAFNQSSTLNLHKRIHSAQK
                     YYKCEECGKAFKWSSSLNEHKRIHAGEKPFSCEECGNVFTTSSDFAKHKRIHTGEKPYK
                     CEECGKSFNRSTTLTTHKRIHTGEKPYTCEECGKAFNWSSTLNVHKRIHSGKNPYKCED
                     CGKAFKVFANLHNHKKIHTGEKPYICKQCGKAFKQSSHLNKHKKIHTVDKPYKCKECGK
                     AFKQYSNLPQHKRTHTGGKF"
     regulatory      1931..1936
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF718"
                     /note="hexamer: AATATA"
     polyA_site      1954
                     /gene="ZNF718"
                     /note="major polyA site"
     regulatory      2000..2005
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF718"
                     /note="hexamer: AATAAA"
     polyA_site      2020
                     /gene="ZNF718"
                     /note="major polyA site"
     regulatory      3150..3155
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF718"
                     /note="hexamer: AATACA"
     regulatory      3155..3160
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF718"
                     /note="hexamer: AGTAAA"
     polyA_site      3168
                     /gene="ZNF718"
                     /note="major polyA site"
     polyA_site      3179
                     /gene="ZNF718"
     regulatory      3621..3626
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF718"
                     /note="hexamer: AATAAA"
     polyA_site      3647
                     /gene="ZNF718"
                     /note="major polyA site"
ORIGIN
        1 ggcttttgct tgtagctcca gccagagctc ggttagggcc tcatcgctct gctcccgctc
       61 cttagggaag cctcggtgat tctgccacag cctcagcctc tgtggctctg tgacctgccg
      121 gtattggatg attcgtatct aagactctgg gacactcctg aagtcgggaa atggaactct
      181 taacattcaa ggatgtggcc atagaattct ctccagaaga gtggaaatgt ctggacactt
      241 cccagcagaa tttatataga gatgtgatgt tggagaacta cagaaacctg gtctccctgg
      301 gtgttagtat ctctaaccca gacctggtca ccagtctgga gcaaagaaaa gagccctaca
      361 atttgaagat acatgaaaca gcagccagac ccccagctgt gtgttctcat ttcacccaaa
      421 acctttggac agtgcagggc atagaagatt cattccacaa acttatacca aaaggacatg
      481 agaaacgtgg acatgagaat ttaagaaaaa cttgtaaaag tataaatgag tgtaaggtgc
      541 agaaaggtgg ttataataga attaaccaat gcttattaac tacccagaaa aaaacaattc
      601 aatctaatat atgtgtcaaa gtttttcata aattttcaaa ttcaaacaaa gataagataa
      661 gatatactgg agataaaacc tttaaatgta aagaatgtgg caaatcattt cacgtgctct
      721 cacgcctaac tcaacacaaa agaattcata ctggagagaa cccctacaca tgtgaagaat
      781 gtggcaaagc ctttaattgg tcctcaattc ttactaaaca taagagaatt catgccagag
      841 agaaattcta caagtgtgaa gaatgtggta aaggctttac tcggtcctca caccttacta
      901 aacataagag aattcatact ggagagaaac cctacatatg tgaaaaatgt ggtaaagctt
      961 ttaaccaatc ctcaaccctt aatttacata agagaattca ttctgcacaa aaatactaca
     1021 aatgtgaaga atgtggtaaa gcctttaagt ggtcctcatc ccttaatgaa cataagagaa
     1081 ttcatgctgg agagaaaccc ttctcatgcg aagaatgtgg caatgtcttt accacatcct
     1141 cagactttgc taaacataag agaattcata caggagagaa accctacaaa tgtgaagaat
     1201 gtggaaaatc ctttaatagg tccacaactc ttacgacaca taagagaatc catactggag
     1261 agaaacccta cacatgtgaa gaatgtggaa aagcctttaa ttggtcctca acccttaatg
     1321 tacacaagag aattcactct ggaaaaaatc cctacaaatg tgaagattgt ggcaaagcct
     1381 ttaaagtgtt tgcaaacctg cataatcata agaaaattca tactggagag aaaccctaca
     1441 tatgtaaaca atgtggcaaa gcctttaaac agtcctcaca cttgaataaa cataagaaaa
     1501 ttcacactgt agataaaccc tacaaatgta aagaatgcgg gaaagctttt aagcagtact
     1561 ccaaccttcc tcaacataag agaactcata ctggaggaaa attttagaaa tgtgaagaat
     1621 gtgggagcct ttaagtcttc ctcagtcttt tctaatcata attcatactg gagagaaact
     1681 ctacacatga aaaaattgac aaagctttta accgcaactc aatctgttct aaacataaga
     1741 gaaatggtat tggtgagaag ccataaaaat atgaaaaatg tggaaaagcc ttcaaatgct
     1801 tgtcacatat tactgaatat aattcttact gcagaaaacc cctaggaata ttaaaagtgt
     1861 ggcaaaacct ttaaccaatg ctcatatctc tttgcacatg atagcattta tacttgagaa
     1921 aaattgtaca aatatagaaa atgtagaaaa gccattaatg cctactcatg tgttactaaa
     1981 tatcagagag tttgtactta ataaaaggat tataaatgta gtatttgttg aaagacctat
     2041 tagaaaatac aggtcttaaa agtgaagaag agtattctga agatagacaa tagaaatagt
     2101 aagagggttg tagtacctgt acttgcatca tgggtcttat tgtgcatatt tcatactaga
     2161 agaaaaccct gaagcagttg cccaaacttt ctttgacatt agagaattta tattggaaag
     2221 aaattttaca aatgtaataa atttggaaaa gcatttgttc aaaaactata gcttaaaaaa
     2281 aaccagttta tactagaaga tattttgtag atgcggtaag tatgaaaaga tagtctgaaa
     2341 ttaagactaa atgtcagaat atttacagta gaaagaaaaa ggcattaaca cttgaaacat
     2401 tacagtatat cagagtgtaa agtataaaaa aattccaaag ctgaaactgt tagataattt
     2461 ctttctatat aagttgaaaa ggagtagctt tttgaaatta ttccattgaa attatacttt
     2521 ttttacctga aaaaattata gattttttga aaagcaaatt caactctaaa attacttcat
     2581 actgattcaa cttattgttt atatgaaagc atgtgatgaa ttgttgcatc agaggtatga
     2641 gtgattcttt ttaggtgggc atcattcatg aacttttttt ttttttttga gacggagtct
     2701 cgctctgtcg cccaggctgg agtgcagtgg cgggatctcg gctcactgca agctctgcct
     2761 ccccctgggt tcacgccatt ctcctgcctc agcctcccaa gtagctggga ctacaggcgc
     2821 ccgccactac gcccggctaa ttttttgtat ttttagtaga gacggggttt caccgtttta
     2881 gccgggatgg tctcgatctc ctgacctcgt gatccgcccg cctcggcctc ccaaagtgct
     2941 gggattacag gcgtattcat gaacttttac atgaatgagt aaggacattg aaagatgcat
     3001 gagatgatgc atacatcttt gtggttgact tatcattgca tgatgcatga cgtacatgtt
     3061 cagagtaata ttcttctgca ttatagtgag agaaaaatct tgaattttag taataaattg
     3121 cttttaccag ttgcacattt atgtaataaa atacagtaaa ttttaaaatt ctcttttaag
     3181 attgtgtgtg aaccttactc aagggtgtag gtaaaaaatg gtaacagtat acttttagta
     3241 acatagttta atgacatttc tagtaatttc tttttccagt ggctttaaac agcaaataag
     3301 ttgaagaata ttgttctcat gttaaatttt tattattttt tatatttaaa tttattttta
     3361 aaaatttatg tgggtacatg gtatgtgtat acattcatgg catagatggg ttactttgat
     3421 acagacatgc aacatgtaat cacatcagag taaatgagtt attcatcacc tcaagcattt
     3481 atcctttgta ttacaaacaa tccaattata cacttcattt ttaaatgtac aattaaatta
     3541 ttttttatta caggtaattt tatgattgta tttagaatta tatcagaata taattataat
     3601 ttagacattt ctgtgtcctg aataaatatg tttttaaatg ttccata
//
LOCUS       NM_001039141           10085 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript
            variant 6, mRNA.
ACCESSION   NM_001039141
VERSION     NM_001039141.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10085)
  AUTHORS   Pavesic Radonja A, Blazevic Zelic S, Rubesa G and Bradshaw NJ.
  TITLE     SYMPTOM SEVERITY IN SCHIZOPHRENIA PATIENTS WITH NPAS3, DYSBINDIN-1
            AND/OR TRIOBP PROTEIN PATHOLOGY IN THEIR BLOOD SERUM: A PANSS-BASED
            FOLLOW UP STUDY
  JOURNAL   Psychiatr Danub 35 (2), 180-186 (2023)
   PUBMED   37480305
  REMARK    GeneRIF: SYMPTOM SEVERITY IN SCHIZOPHRENIA PATIENTS WITH NPAS3,
            DYSBINDIN-1 AND/OR TRIOBP PROTEIN PATHOLOGY IN THEIR BLOOD SERUM: A
            PANSS-BASED FOLLOW UP STUDY.
REFERENCE   2  (bases 1 to 10085)
  AUTHORS   Kabahuma RI, Schubert WD, Labuschagne C, Yan D, Pepper MS and Liu
            XZ.
  TITLE     Elucidation of repeat motifs R1- and R2-related TRIOBP variants in
            autosomal recessive nonsyndromic hearing loss DFNB28 among
            indigenous South African individuals
  JOURNAL   Mol Genet Genomic Med 10 (10), e2015 (2022)
   PUBMED   36029164
  REMARK    GeneRIF: Elucidation of repeat motifs R1- and R2-related TRIOBP
            variants in autosomal recessive nonsyndromic hearing loss DFNB28
            among indigenous South African individuals.
REFERENCE   3  (bases 1 to 10085)
  AUTHORS   Zaharija B, Odorcic M, Hart A, Samardzija B, Marreiros R, Prikulis
            I, Jukovic M, Hyde TM, Kleinman JE, Korth C and Bradshaw NJ.
  TITLE     TRIOBP-1 Protein Aggregation Exists in Both Major Depressive
            Disorder and Schizophrenia, and Can Occur through Two Distinct
            Regions of the Protein
  JOURNAL   Int J Mol Sci 23 (19), 11048 (2022)
   PUBMED   36232351
  REMARK    GeneRIF: TRIOBP-1 Protein Aggregation Exists in Both Major
            Depressive Disorder and Schizophrenia, and Can Occur through Two
            Distinct Regions of the Protein. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 10085)
  AUTHORS   Park S, Lee H, Kim M, Park J, Kim SH and Park J.
  TITLE     Emerging roles of TRIO and F-actin-binding protein in human diseases
  JOURNAL   Cell Commun Signal 16 (1), 29 (2018)
   PUBMED   29890989
  REMARK    GeneRIF: roles of TRIO and F-actin-binding protein in human diseases
            Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 10085)
  AUTHORS   Jones DK, Johnson AC, Roti Roti EC, Liu F, Uelmen R, Ayers RA,
            Baczko I, Tester DJ, Ackerman MJ, Trudeau MC and Robertson GA.
  TITLE     Localization and functional consequences of a direct interaction
            between TRIOBP-1 and hERG proteins in the heart
  JOURNAL   J Cell Sci 131 (6) (2018)
   PUBMED   29507111
  REMARK    GeneRIF: TRIOBP-1 overexpression caused intracellular
            co-sequestration of hERG signal, reduced native IKr and disrupted
            action potential repolarization. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 10085)
  AUTHORS   Seipel K, O'Brien SP, Iannotti E, Medley QG and Streuli M.
  TITLE     Tara, a novel F-actin binding protein, associates with the Trio
            guanine nucleotide exchange factor and regulates actin cytoskeletal
            organization
  JOURNAL   J Cell Sci 114 (Pt 2), 389-399 (2001)
   PUBMED   11148140
REFERENCE   7  (bases 1 to 10085)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP,
            Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird
            CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien
            KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   8  (bases 1 to 10085)
  AUTHORS   Ueki N, Oda T, Kondo M, Yano K, Noguchi T and Muramatsu M.
  TITLE     Selection system for genes encoding nuclear-targeted proteins
  JOURNAL   Nat Biotechnol 16 (13), 1338-1342 (1998)
   PUBMED   9853615
REFERENCE   9  (bases 1 to 10085)
  AUTHORS   Mayer,B.J., Ren,R., Clark,K.L. and Baltimore,D.
  TITLE     A putative modular domain present in diverse signaling proteins
  JOURNAL   Cell 73 (4), 629-630 (1993)
   PUBMED   8500161
REFERENCE   10  (bases 1 to 10085)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Schaefer,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301607
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: DQ228005.1 [ECO:0000331]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644935.1/ ENSP00000496394.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA790674.1, DQ228005.1,
            Z83844.5 and AW444985.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001039141.2.
            Summary: This gene encodes a protein with an N-terminal pleckstrin
            homology domain and a C-terminal coiled-coil region. The protein
            interacts with trio, which is involved with neural tissue
            development and controlling actin cytoskeleton organization, cell
            motility and cell growth. The protein also associates with F-actin
            and stabilizes F-actin structures. Mutations in this gene have been
            associated with a form of autosomal recessive nonsyndromic
            deafness. Multiple alternatively spliced transcript variants that
            would encode different isoforms have been found for this gene,
            however some transcripts may be subject to nonsense-mediated decay
            (NMD). [provided by RefSeq, Nov 2008].
            Transcript Variant: This variant (6) represents the longest
            transcript and encodes the longest protein (isoform 6).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..10085
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     gene            1..10085
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="TRIO and F-actin binding protein"
                     /db_xref="GeneID:11078"
                     /db_xref="HGNC:HGNC:17009"
                     /db_xref="MIM:609761"
     misc_feature    182..184
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="upstream in-frame stop codon"
     CDS             212..7309
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="isoform 6 is encoded by transcript variant 6;
                     tara-like protein; trio-associated repeat on actin; protein
                     Tara"
                     /codon_start=1
                     /product="TRIO and F-actin-binding protein isoform 6"
                     /protein_id="NP_001034230.1"
                     /db_xref="CCDS:CCDS43015.1"
                     /db_xref="GeneID:11078"
                     /db_xref="HGNC:HGNC:17009"
                     /db_xref="MIM:609761"
                     /translation="MEEVPGDALCEHFEANILTQNRCQNCFHPEEAHGARYQELRSPSG
                     AEVPYCDLPRCPPAPEDPLSASTSGCQSVVDPGLRPGPKRGPSPSAGLPEEGPTAAPRS
                     RSRELEAVPYLEGLTTSLCGSCNEDPGSDPTSSPDSATPDDTSNSSSVDWDTVERQEEE
                     APSWDELAVMIPRRPREGPRADSSQRAPSLLTRSPVGGDAAGQKKEDTGGGGRSAGQHW
                     ARLRGESGLSLERHRSTLTQASSMTPHSGPRSTTSQASPAQRDTAQAASTREIPRASSP
                     HRITQRDTSRASSTQQEISRASSTQQETSRASSTQEDTPRASSTQEDTPRASSTQWNTP
                     RASSPSRSTQLDNPRTSSTQQDNPQTSFPTCTPQRENPRTPCVQQDDPRASSPNRTTQR
                     ENSRTSCAQRDNPKASRTSSPNRATRDNPRTSCAQRDNPRASSPSRATRDNPTTSCAQR
                     DNPRASRTSSPNRATRDNPRTSCAQRDNPRASSPSRATRDNPTTSCAQRDNPRASRTSS
                     PNRATRDNPRTSCAQRDNPRASSPNRAARDNPTTSCAQRDNPRASRTSSPNRATRDNPR
                     TSCAQRDNPRASSPNRATRDNPTTSCAQRDNPRASRTSSPNRATRDNPRTSCAQRDNPR
                     ASSPNRTTQQDSPRTSCARRDDPRASSPNRTIQQENPRTSCALRDNPRASSPSRTIQQE
                     NPRTSCAQRDDPRASSPNRTTQQENPRTSCARRDNPRASSRNRTIQRDNPRTSCAQRDN
                     PRASSPNRTIQQENLRTSCTRQDNPRTSSPNRATRDNPRTSCAQRDNLRASSPIRATQQ
                     DNPRTCIQQNIPRSSSTQQDNPKTSCTKRDNLRPTCTQRDRTQSFSFQRDNPGTSSSQC
                     CTQKENLRPSSPHRSTQWNNPRNSSPHRTNKDIPWASFPLRPTQSDGPRTSSPSRSKQS
                     EVPWASIALRPTQGDRPQTSSPSRPAQHDPPQSSFGPTQYNLPSRATSSSHNPGHQSTS
                     RTSSPVYPAAYGAPLTSPEPSQPPCAVCIGHRDAPRASSPPRYLQHDPFPFFPEPRAPE
                     SEPPHHEPPYIPPAVCIGHRDAPRASSPPRHTQFDPFPFLPDTSDAEHQCQSPQHEPLQ
                     LPAPVCIGYRDAPRASSPPRQAPEPSLLFQDLPRASTESLVPSMDSLHECPHIPTPVCI
                     GHRDAPSFSSPPRQAPEPSLFFQDPPGTSMESLAPSTDSLHGSPVLIPQVCIGHRDAPR
                     ASSPPRHPPSDLAFLAPSPSPGSSGGSRGSAPPGETRHNLEREEYTVLADLPPPRRLAQ
                     RQPGPQAQCSSGGRTHSPGRAEVERLFGQERRKSEAAGAFQAQDEGRSQQPSQGQSQLL
                     RRQSSPAPSRQVTMLPAKQAELTRRSQAEPPHPWSPEKRPEGDRQLQGSPLPPRTSART
                     PERELRTQRPLESGQAGPRQPLGVWQSQEEPPGSQGPHRHLERSWSSQEGGLGPGGWWG
                     CGEPSLGAAKAPEGAWGGTSREYKESWGQPEAWEEKPTHELPRELGKRSPLTSPPENWG
                     GPAESSQSWHSGTPTAVGWGAEGACPYPRGSERRPELDWRDLLGLLRAPGEGVWARVPS
                     LDWEGLLELLQARLPRKDPAGHRDDLARALGPELGPPGTNDVPEQESHSQPEGWAEATP
                     VNGHSPALQSQSPVQLPSPACTSTQWPKIKVTRGPATATLAGLEQTGPLGSRSTAKGPS
                     LPELQFQPEEPEESEPSRGQDPLTDQKQADSADKRPAEGKAGSPLKGRLVTSWRMPGDR
                     PTLFNPFLLSLGVLRWRRPDLLNFKKGWMSILDEPGEPPSPSLTTTSTSQWKKHWFVLT
                     DSSLKYYRDSTAEEADELDGEIDLRSCTDVTEYAVQRNYGFQIHTKDAVYTLSAMTSGI
                     RRNWIEALRKTVRPTSAPDVTKLSDSNKENALHSYSTQKGPLKAGEQRAGSEVISRGGP
                     RKADGQRQALDYVELSPLTQASPQRARTPARTPDRLAKQEELERDLAQRSEERRKWFEA
                     TDSRTPEVPAGEGPRRGLGAPLTEDQQNRLSEEIEKKWQELEKLPLRENKRVPLTALLN
                     QSRGERRGPPSDGHEALEKEVQALRAQLEAWRLQGEAPQSALRSQEDGHIPPGYISQEA
                     CERSLAEMESSHQQVMEELQRHHERELQRLQQEKEWLLAEETAATASAIEAMKKAYQEE
                     LSRELSKTRSLQQGPDGLRKQHQSDVEALKRELQVLSEQYSQKCLEIGALMRQAEEREH
                     TLRRCQQEGQELLRHNQELHGRLSEEIDQLRGFIASQGMGNGCGRSNERSSCELEVLLR
                     VKENELQYLKKEVQCLRDELQMMQKDKRFTSGKYQDVYVELSHIKTRSEREIEQLKEHL
                     RLAMAALQEKESMRNSLAE"
     misc_feature    353..3529
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2D6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1580..1582
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:22820163; propagated from
                     UniProtKB/Swiss-Prot (Q9H2D6.3); phosphorylation site"
     misc_feature    3713..4873
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2D6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4988..5212
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2D6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5246..5464
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2D6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5597..5599
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9H2D6.3); phosphorylation site"
     misc_feature    5876..6262
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2D6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5999..6001
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q99KW3; propagated from
                     UniProtKB/Swiss-Prot (Q9H2D6.3); methylation site"
     misc_feature    6056..6058
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9H2D6.3); phosphorylation site"
     misc_feature    6074..6076
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H2D6.3); phosphorylation site"
     misc_feature    6731..6793
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2D6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      8020..8025
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="hexamer: AATAAA"
     polyA_site      8038
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="major polyA site"
     polyA_site      8070
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
     regulatory      10029..10034
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="hexamer: AATAAA"
     regulatory      10036..10041
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="hexamer: AATACA"
     polyA_site      10055
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
     regulatory      10064..10069
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
                     /note="hexamer: AATAAA"
     polyA_site      10065
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
     polyA_site      10085
                     /gene="TRIOBP"
                     /gene_synonym="DFNB28; dJ37E16.4; HRIHFB2122; TAP68; TARA"
ORIGIN
        1 actcccaccc cggcagcccc tgtgcgtgga aacccagcca aggtctgatg atggaggagc
       61 cttggccctg gctgtcccag gggaggaggt gaaattcctc agctctccac caagattggc
      121 cacaaaagcc tgatcccctg gaacacagca ggcctcacat agacggtcag ccattggatc
      181 ataggaactg ccctggcctg actcacccaa tatggaggag gtgcctgggg atgccctgtg
      241 tgaacacttt gaggccaaca tacttaccca gaaccgctgt caaaactgct tccaccctga
      301 ggaggcccat ggagcaagat accaggagct caggagccct tcaggtgctg aggtgcccta
      361 ctgcgacctg cctcgatgtc cacctgcccc tgaggaccca ctcagcgcct caacctccgg
      421 ctgccagtct gtggtggacc caggcctcag gccagggccc aagaggggcc catccccctc
      481 agcagggctc ccagaagagg gtcccacagc tgcccccagg agcaggagcc gggagcttga
      541 ggcagtaccc tatctggagg gcctgaccac ttccttgtgt ggcagctgca acgaggaccc
      601 cggctctgac cccacctcca gccctgactc cgccacccct gatgatacca gcaactcgtc
      661 ctctgtggac tgggacactg ttgagaggca ggaggaggag gcccccagct gggacgagct
      721 cgcagtgatg atcccgagga ggcctcggga ggggccgaga gctgacagct cccaaagggc
      781 tccgtctctc ctcaccaggt cccctgtggg aggagatgct gcaggccaga aaaaggagga
      841 caccggcggt gggggccgga gcgcaggaca gcactgggca aggctccggg gagaaagcgg
      901 gttgtccctg gagcggcacc ggtcaacact gacccaggct tcctccatga caccacacag
      961 tggacctcga agcaccacgt ctcaggcttc tcctgcccaa agggacactg ctcaggctgc
     1021 ctctacacgt gaaatcccca gagcctcctc tccccatcga atcacccaaa gggacacctc
     1081 cagggcctca tccacccaac aggaaatctc cagggcctca tccacccaac aggaaacctc
     1141 cagggcctca tccacccaag aggacacccc tagggcctca tccacccaag aggacacccc
     1201 cagggcctca tctacacagt ggaacacccc cagagcttcc tctccctcac gaagcaccca
     1261 actggataac cccagaacct cttctaccca gcaggacaac ccccaaactt cttttcctac
     1321 ttgtactccc cagcgggaaa accccaggac accctgtgtc cagcaggacg atcccagagc
     1381 ctcctctccc aacagaacca ctcaacgaga gaattccaga acatcctgtg cccagcggga
     1441 caatcccaaa gcctccagaa cctcctctcc caatagagcc acacgagaca accccagaac
     1501 atcctgcgcc cagcgggaca atcccagagc ctcctctccc agtagagcta cacgagacaa
     1561 ccccacaaca tcctgtgccc agcgggacaa tcccagagcc tccagaacct cctctcccaa
     1621 tagagccaca cgagacaacc ccagaacatc ctgtgcccag cgggacaatc ccagagcctc
     1681 ctctcccagt agagctacac gagacaaccc cacaacatcc tgtgcccagc gggacaatcc
     1741 cagagcctcc agaacctcct ctcccaatag agccacacga gacaacccca gaacatcctg
     1801 cgcccagcgg gacaatccca gagcctcctc tcccaataga gctgcacgag acaaccccac
     1861 aacatcctgt gcccagcggg acaatcccag agcctccaga acctcctctc ccaatagagc
     1921 cacacgagac aaccccagaa catcctgtgc ccagcgggac aatcccagag cctcctctcc
     1981 caatagagct acacgagaca accccacaac atcctgtgcc cagcgggaca atcccagagc
     2041 ctccagaacc tcctctccca atagagccac acgagataac cccagaacat cctgtgccca
     2101 gcgggacaat cccagagcct cctctcccaa cagaaccacc caacaagaca gccccagaac
     2161 atcctgtgcc cgacgggacg atcccagagc ctcctctcct aacagaacca tccaacaaga
     2221 gaaccccaga acatcctgtg ccctacggga caatcccaga gcctcctctc ccagcagaac
     2281 catccaacaa gagaacccca gaacatcctg tgcccaacgg gacgatccca gagcctcctc
     2341 tcctaacaga accacccaac aagagaaccc cagaacatcc tgtgcccgac gggacaatcc
     2401 cagagcctcc tctcgcaaca gaaccatcca gcgagacaac cccagaacat cctgtgccca
     2461 gcgggacaat cccagagcct cctctcctaa cagaaccatc caacaagaga acctcagaac
     2521 atcctgtacc cgacaggaca atcccaggac ctcctctccc aatagagcca cacgagacaa
     2581 ccccagaaca tcctgtgccc agcgggacaa tctcagagcc tcctctccca tcagagccac
     2641 ccaacaggac aaccccagaa cttgtattca acagaacatc cccagatcat cttctaccca
     2701 acaagacaac cctaaaacct cttgtaccaa acgagataac ctcagaccca cttgtacaca
     2761 gcgggaccgc acacagtcct tttcctttca acgagacaac cctggaacct cctcatctca
     2821 atgctgcacc caaaaggaga atctgagacc atcatctccc caccgctcca ctcaatggaa
     2881 caatcccagg aattcatctc cccatcgtac taacaaagac atcccctggg cctcgtttcc
     2941 cctccggcca actcagagtg atggtccccg aacctcttcc ccatctcgct ccaagcaaag
     3001 cgaggttccc tgggcatcca tcgccctccg gccaacccaa ggtgacaggc ctcagacatc
     3061 ctctcccagc aggccagccc agcatgaccc accccagtcc tcctttggcc ccacccagta
     3121 caacttgcca tcccgggcca cctcttcctc ccataaccca ggccaccaga gcacctcccg
     3181 aacttcctca cctgtgtacc ccgctgccta tggggctccc ctgacctctc ctgagccctc
     3241 ccagcctcca tgtgctgtgt gcattgggca ccgggatgcc cctcgagcct cttcgccccc
     3301 tcgctatttg cagcacgacc ccttcccctt cttcccagag ccccgcgccc ctgagagtga
     3361 accgccccac cacgagcctc cctatatacc acctgctgtg tgcattggac accgagatgc
     3421 cccccgggcg tcctcgcccc cccgccacac ccaatttgac cccttcccct tcctcccaga
     3481 cacatcagat gccgagcatc agtgtcagtc cccccaacac gagccccttc agctccctgc
     3541 acctgtgtgt attgggtacc gagatgcacc ccgggcctcc tccccaccac gccaggcccc
     3601 agagccttcc ctcttattcc aggacctccc cagggccagc acagagagcc ttgtcccttc
     3661 catggactct ctgcacgagt gcccccacat ccccacccct gtgtgcattg ggcaccggga
     3721 tgcaccctcc ttctcatccc caccacgcca ggctcctgag ccatccctct tcttccagga
     3781 tccccctgga actagtatgg agagcctggc cccctccact gactctctgc atggctcccc
     3841 agtgctgatc ccccaagtgt gcatcgggca ccgggatgca ccccgagcct cctccccacc
     3901 ccgccaccca cccagtgacc tagcgttcct ggcaccctca ccttcaccgg gcagctctgg
     3961 gggctcccgg ggctcagcgc ctcccgggga gaccaggcac aacttggagc gggaggagta
     4021 cactgtgctg gccgacctgc ccccacccag gaggctggcc cagagacagc cagggcccca
     4081 ggcgcagtgc agcagcgggg gccgcaccca cagccctggc cgtgcagagg tggagcgcct
     4141 cttcgggcaa gagcgcagga agtccgaggc agcgggggcc ttccaggccc aggacgaggg
     4201 acggtcacag cagcccagcc aaggccagag ccaacttctc cgaagacagt ccagccctgc
     4261 ccccagcagg caggtgacca tgctccctgc caaacaggca gaactgaccc ggcggagcca
     4321 agcagagccc cctcatcctt ggagtcctga gaagagacct gagggagatc ggcagctcca
     4381 ggggtccccg ctgcccccca ggacatcagc caggacccct gagagggagc tgcggacaca
     4441 gagacctctg gagagtggcc aagcaggccc aagacagcct ctgggggtgt ggcagagtca
     4501 ggaggaaccg ccagggtccc agggccctca tagacaccta gaaaggagct ggagcagcca
     4561 ggagggaggc ctgggccctg ggggctggtg gggatgtgga gagcccagcc tgggggcagc
     4621 caaagccccg gagggagcat gggggggcac ttccagggag tacaaggaga gctgggggca
     4681 gccagaggcc tgggaggaga agcccactca tgagctcccc agagaactag gaaagagaag
     4741 cccactcacg agcccccctg agaactgggg aggccccgca gagtcctcac aatcctggca
     4801 ctctgggaca cccactgctg tgggctgggg ggcagaggga gcgtgtccat acccgcgtgg
     4861 ctctgagagg cgacccgagc ttgactggag ggatctgctt ggccttctcc gggcaccagg
     4921 agagggggtc tgggcccgtg tccccagcct ggactgggag ggcctcttgg agctcctgca
     4981 ggccaggctg ccccgcaagg acccagctgg acacagggat gacctggcca gggctttagg
     5041 gccagagctg ggtcccccag gcacaaacga tgtccctgag caggagtcac acagccagcc
     5101 agaaggctgg gccgaggcca ccccagtcaa tggacacagc cccgcactgc agtcccagag
     5161 cccggtccag ctgcccagcc ctgcctgcac ctccacccag tggccaaaga tcaaagtgac
     5221 aagaggacca gcgaccgcaa ctctggcagg cctggagcag acgggccccc tggggagcag
     5281 gagcactgcg aagggcccca gcttgccaga gctgcagttc caaccagagg agcctgagga
     5341 gtcagaacca agcagaggcc aagaccccct gactgaccag aagcaggcag actcggcaga
     5401 caagaggcca gcagagggca aggctgggag cccgctcaag ggccgactgg tgacctcatg
     5461 gcggatgccc ggggaccggc ccacgctgtt caatccgttc ctgctgtctc tgggggtcct
     5521 caggtggcga aggcccgatc tgctcaactt caagaaggga tggatgtcga tcttggacga
     5581 gcctggagag cctccctccc cctcgctcac caccacctct acttcgcagt ggaagaaaca
     5641 ttggtttgtg ctgacagatt caagtctcaa atattacaga gactccactg ctgaggaggc
     5701 agatgagctg gatggtgaga tcgacctgcg ttcctgcacg gatgtcactg agtacgcggt
     5761 gcagcgcaac tatggcttcc agatccacac caaggatgct gtctatacct tgtcggccat
     5821 gacctcaggc atccggcgga actggatcga ggctctgaga aagaccgtac gtccaacttc
     5881 agccccagat gtcaccaagc tctcggactc taacaaggag aacgcgctgc acagctacag
     5941 cacccagaag ggccccctga aggcagggga gcagcgggcg ggctctgagg tcatcagccg
     6001 gggtggccct cggaaggcgg acgggcagcg tcaggccttg gactacgtgg agctctcgcc
     6061 gctgacccag gcttccccgc agcgggcccg caccccagcc cgcactcctg accgcctggc
     6121 caagcaggag gagctggagc gggacctggc ccagcgctcc gaggagcggc gcaagtggtt
     6181 tgaggccaca gacagcagga ccccagaggt gcctgctggt gaggggccgc gccggggcct
     6241 gggtgccccc ctgactgagg accagcaaaa ccggcttagt gaggagatcg agaagaagtg
     6301 gcaggagctg gagaagctgc ccctgcggga gaataagcgg gtgcccctca ctgccctgct
     6361 caaccaaagc cgcggagagc gccgagggcc cccaagtgac ggccacgagg cactggagaa
     6421 ggaggttcag gctcttcggg cccagctgga ggcgtggcgt ctccaagggg aggctcctca
     6481 gagtgcactg agatcccagg aggatggcca catccccccg ggctacatct cacaggaggc
     6541 atgtgagcgc agcctggcag agatggagtc ctcgcaccag caggtgatgg aggagctgca
     6601 gcggcaccac gagcgggagc tgcagcgcct gcagcaggag aaggagtggc tcctggctga
     6661 ggagacggca gccacggcct cagccattga agccatgaag aaggcctacc aggaagagct
     6721 gagccgagag ctgagcaaaa cacggagtct ccagcagggc ccggatggcc tccggaagca
     6781 gcaccagtca gatgtggagg cactgaagcg agagctgcag gtgctatcgg agcagtactc
     6841 gcagaagtgc ctggagattg gggcactcat gcggcaggct gaggagcgcg agcacacgct
     6901 gcgccgctgc cagcaggagg gccaggagct gctgcgccac aaccaggagc tgcatggccg
     6961 cctgtcagag gagatagacc agctgcgcgg cttcattgcc tcgcagggca tgggcaatgg
     7021 ctgcgggcgc agcaacgagc ggagttcctg cgagctagag gtgctgcttc gcgtaaaaga
     7081 aaacgaactc cagtacctaa agaaggaggt gcagtgcctc cgggacgagc tccagatgat
     7141 gcagaaggac aagcgcttca cctcgggaaa gtaccaggac gtctatgtgg agctgagcca
     7201 catcaagaca cggtctgagc gggagatcga gcagctgaag gagcacctgc gtcttgccat
     7261 ggccgccctc caggagaagg agtcgatgcg caacagcctg gctgagtaga ggtcccgccc
     7321 agctgcagac cctccaggct ggaggaccag ccgccctcct tccctcctgg atggaagtaa
     7381 aaagccaagc tttctcccca ccctctgtgg gccacacgtg cacttgcacc caccacacac
     7441 acacacacac acacacacac acacacagac acacagacac atacgcacac acgtgcacac
     7501 atgtacacac ggatacacac acacacacac acactgcata tctgagcgcg cccctcgcac
     7561 tgggtctcac cttgcacctt cttcaggatt ttatatgtga agagattttt atatagattt
     7621 ttttcctttt tttccaaaac actttatact ttaaaaaaaa aaaaaaaaag caattcctgg
     7681 tggctgtgtg cctccaaccc tggtccccct ctgtctccag ccaccctctg cttgggcttc
     7741 tgagctggtg gccctggccc agaggtctgg cggaggccca ggcagcagcc atggcggggt
     7801 gtctctacag gggagaggcg ggagcctgcc accctcttcc tgccctacct cctactaaca
     7861 cttcctgccc catttggacc cgtaccatgg ggctcaggac agagggagct agcagctggc
     7921 ctccatggcc ccacagcctc cttcgaggct gtgctgggtg cagaaccgcc agagccaccc
     7981 aaaaggtgtt tctcttctgc tccctgaacc tcttaactta ataaaacgtt ccagcagctc
     8041 tggtgtccta gatggctggc agaacaggaa tggagattgg ggtttcttga agtggcttcc
     8101 ccactcacac cctacccaca ccccaccctt cctaaagcag cggcctctag gcttctgagg
     8161 gtggggctga aaatccaagg tctcccttag tacagactgt gacgccccca gtgtggcttg
     8221 caggctagtg gcagcggaag catgtgggaa atagcaagtc cagtcccacc ccaacctact
     8281 gaaccagcgt ctgcatttta acagggtgcc ccagtgattc acgtgacctt caaagtctga
     8341 ggagccctgg agtagggccc agggcccagg cctgagagag aggcctgggg ctaagactag
     8401 ccctgaccat gaccttgggc aagtcacacc cctcactgag cctcagtttg cttctccatc
     8461 aaatgggtgt ttttctttca gtcccagtcc tctcctgagg cttttcccag aggtcatgcc
     8521 cagccctggg caggggtgag ggcagggttg tggctgccag gcacaggtcc agcgggctgg
     8581 gagtcctcac catggctggc tgtgctgatt atggttgcat ggggctggga agaggtccca
     8641 tttctgagcc acagaaacag gccacatcca gtaggggtcc tggaaggctg tgagaaccca
     8701 gaggagaccc tgacccagcc tgcaggtaga agactgcctt tggaggcagc tttgaaagat
     8761 gactcttcca gatggaagaa tcaggaaggg ccttcccacg tggaggcacc agcaggagca
     8821 aacgtccctg gtgtgttcag gcaaagagcc acaggagagt gacctcgtgg agtgggaaga
     8881 gattgtttcc cattcccttg ccagggattg gttgaggaat ggacaaggct tgcagttcac
     8941 gcaagccagt gaaatgcgag gggaagtctt gggagtgggg tggaggaggt catctgggaa
     9001 gggtgtcctt ggtcttaaaa agaggcacaa gaggccgggc gcggtggctc ttgcctatta
     9061 tcctagcact ttgggaggcc aaggcagggg gatcacttga ggtcaggagt tcgagaccag
     9121 cctggccaac atggtgaaac cccgtctcta ctaaaaatac aaaaaattag ccagacgtgg
     9181 tgccaagcac ctgtaatccc agctactcag gaggctgagg caggagaatc acttgaaccc
     9241 aggaggcaga agttgcagtg agccaagatc gcgccactgc actccagcct gtgtgacaag
     9301 ggcgaaactc catctcaaaa aaaaaggggg agggtggcgc aaggagagga cacctctctc
     9361 ctggccctgt cgccatcttc cctcatcaat agctaaaaat ggcaaagaag aaagagccag
     9421 gaccccgtgc catcaaatcc tccggccttg tgctgccctg tctcggcact gcttgcctta
     9481 ggagatcagg agtgttccta gccactggga gatgggatgc ctgccactgg cagctctgcc
     9541 gtccatcctc accatcccac cgtcccccca agacagctct ccatcccatc ctctgcctcc
     9601 cttctagcct caacctaact cagggctccc ccgtctcaca cctgggttgc aggaacatcc
     9661 tcttcaccaa cccccctccc atccctcctc agggctgcct agggcagcta caaaaaccag
     9721 gccagcctct gaaaggtgct ccacatctca ttaaaaaccg tgaaatcgca ctgccccact
     9781 atcagaatag ctcagaggag aaggtctgcc agtaccaagt gctggtgggg atacggagaa
     9841 gagcagctcc caggcgctgc tggtgcaaat gtgctttgtt gcacccacgg caggaaactg
     9901 accagcttct catcaagtta aatacgcatc taccctatgg cctagcattt ccactcttgc
     9961 ttacacatcc aggagaaatg agtccttaca tgcacaaaag gatgagtacc gtaatactca
    10021 catcagcaaa taaacaatac agctgtgtgt cagtagtaga atgaataaat tgtggtcgat
    10081 tcata
//
LOCUS       NM_001039152            1794 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens regulator of G protein signaling 21 (RGS21), mRNA.
ACCESSION   NM_001039152
VERSION     NM_001039152.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1794)
  AUTHORS   Cohen SP, Buckley BK, Kosloff M, Garland AL, Bosch DE, Cheng G Jr,
            Radhakrishna H, Brown MD, Willard FS, Arshavsky VY, Tarran R,
            Siderovski DP and Kimple AJ.
  TITLE     Regulator of G-protein signaling-21 (RGS21) is an inhibitor of
            bitter gustatory signaling found in lingual and airway epithelia
  JOURNAL   J Biol Chem 287 (50), 41706-41719 (2012)
   PUBMED   23095746
  REMARK    GeneRIF: RGS21 modulates bitter taste signal transduction.
REFERENCE   2  (bases 1 to 1794)
  AUTHORS   Zhang D, Pang Z, Li S, Jiang W, Wang S, Thomassen M, Hjelmborg JV,
            Kruse TA, Ohm Kyvik K, Christensen K, Zhu G and Tan Q.
  TITLE     Genome-wide linkage and association scans for pulse pressure in
            Chinese twins
  JOURNAL   Hypertens Res 35 (11), 1051-1057 (2012)
   PUBMED   22763476
REFERENCE   3  (bases 1 to 1794)
  AUTHORS   Li X, Chen L, Ji C, Liu B, Gu J, Xu J, Zou X, Gu S and Mao Y.
  TITLE     Isolation and expression pattern of RGS21 gene, a novel RGS member
  JOURNAL   Acta Biochim Pol 52 (4), 943-946 (2005)
   PUBMED   16302027
  REMARK    GeneRIF: RGS21 mRNA is expressed ubiquitously in the 16 tissues
            examined, implying general physiological roles.
REFERENCE   4  (bases 1 to 1794)
  AUTHORS   von Buchholtz L, Elischer A, Tareilus E, Gouka R, Kaiser C, Breer H
            and Conzelmann S.
  TITLE     RGS21 is a novel regulator of G protein signalling selectively
            expressed in subpopulations of taste bud cells
  JOURNAL   Eur J Neurosci 19 (6), 1535-1544 (2004)
   PUBMED   15066150
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY643711.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000417209.2/ ENSP00000428343.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY643711.1, AL357566.12 and AL390957.14.
            On Jan 28, 2010 this sequence version replaced NM_001039152.2.
            Summary: Regulator of G protein signaling (RGS) proteins are
            regulatory and structural components of G protein-coupled receptor
            complexes. RGS proteins are GTPase-activating proteins for Gi (see
            GNAI1; MIM 139310) and Gq (see GNAQ; MIM 600998) class G-alpha
            proteins. They accelerate transit through the cycle of GTP binding
            and hydrolysis and thereby accelerate signaling kinetics and
            termination.[supplied by OMIM, Nov 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
FEATURES             Location/Qualifiers
     source          1..1794
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.2"
     gene            1..1794
                     /gene="RGS21"
                     /note="regulator of G protein signaling 21"
                     /db_xref="GeneID:431704"
                     /db_xref="HGNC:HGNC:26839"
                     /db_xref="MIM:612407"
     misc_feature    154..156
                     /gene="RGS21"
                     /note="upstream in-frame stop codon"
     CDS             175..633
                     /gene="RGS21"
                     /note="regulator of G-protein signalling 21"
                     /codon_start=1
                     /product="regulator of G-protein signaling 21"
                     /protein_id="NP_001034241.1"
                     /db_xref="CCDS:CCDS41448.1"
                     /db_xref="GeneID:431704"
                     /db_xref="HGNC:HGNC:26839"
                     /db_xref="MIM:612407"
                     /translation="MPVKCCFYRSPTAETMTWSENMDTLLANQAGLDAFRIFLKSEFSE
                     ENVEFWLACEDFKKTKNADKIASKAKMIYSEFIEADAPKEINIDFGTRDLISKNIAEPT
                     LKCFDEAQKLIYCLMAKDSFPRFLKSEIYKKLVNSQQVPNHKKWLPFL"
ORIGIN
        1 gttaccactt ggaaaacaat tcatctgaaa gaagcacaga ttttctcatc tatcctgtca
       61 acaaagaagg aatcaagaga gcaaggacag tgatttcccc tgcattgcat ttgtcttgaa
      121 gatcagtcag aaagagaaac tcggcatcat ctgtgacaga cagtggaacg aaaaatgcca
      181 gtgaaatgct gtttctacag gtcaccaact gcggaaacaa tgacatggtc tgaaaatatg
      241 gacacgcttt tagccaacca agctggtcta gatgcttttc gaatatttct aaaatcagag
      301 tttagtgaag aaaatgttga gttctggctt gcctgtgaag actttaagaa aacgaaaaat
      361 gcagacaaaa ttgcttccaa agccaagatg atttattctg aattcattga agctgatgca
      421 cctaaagaga ttaacattga cttcggtacc agagacctca tctcaaagaa tattgctgaa
      481 ccaacactca aatgctttga tgaggctcag aaattaatct attgtctcat ggccaaggat
      541 tctttccctc gatttctgaa gtcagagatt tataaaaaac tggtaaatag ccaacaggtt
      601 ccaaatcata aaaaatggct cccttttttg tgaggaaggt aaaagttaac taatcactat
      661 acttcagggc tacaatattt taaatataca agcatgatgc attgtctttt gttttgtttt
      721 taggatttag aaaacatttt ttacccaaac agatgaataa cgttttatac aacaagcctg
      781 aatttctaac tcagttgttt agaatgtatt tgctttacca gctatttaat ctcctactgg
      841 gggagtacaa agaaagttta tagagataca atatagtctt aaaccaaaac tgaatattct
      901 tattatatta taatgtaagg aattatacat atcttcacgt ggcagaatga aagacttttg
      961 agcatcatat acacaatttt aaataccatt gctttattca aaaaaatctc acttttgtaa
     1021 aaagagaatt tctgaaccaa aatacaagct ttcatttaat atatttaact gttttttttc
     1081 tgccatttct ttccaactat ttctaataat gtggttatga aaactgctac gcctctcaaa
     1141 ttatattttt taaatcacag gaatgtatac acatttatat gtatgtcttg aatgcaccat
     1201 ggaccaaagt ttttcaaaat atatcacttg gctcaattca atggcatcac atataaaatg
     1261 tgatgagtta tgtatgaaaa ggcctcaagg gtggggaata ctgattttct tatgttaaca
     1321 gaaatataaa agaaagtgga agactaagga gcatagataa atccttataa gatgaagtat
     1381 atagcaagtc ataaaattta agaatttgca acattatcta ctcaattgtg gggaagtatc
     1441 tattcactcc ttcagcactg atacttgttt ataaaaccca aacaattttt aaatgcattt
     1501 attttgagat gttcctaaaa ttgtttcatt ctatatgtaa atatcctgtg ataaatacga
     1561 ataatttcat ttcaatatga gaagctgtaa agattcaaca gatctcccac gtttccattt
     1621 tctttgcaca gatttattta tctgcattga tatttctgct tttagattgt ttgaacatta
     1681 aaaaatggag gaaaaatagc atggcttatt ttatgttttc acaaactact catttgatag
     1741 acaaaatttt gtcttccctt catcatgaga aataaacatt taaacatatt caaa
//
LOCUS       NM_001039165            4108 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens MAS related GPR family member E (MRGPRE), mRNA.
ACCESSION   NM_001039165
VERSION     NM_001039165.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4108)
  AUTHORS   Premzl M.
  TITLE     Comparative genomic analysis of eutherian Mas-related G
            protein-coupled receptor genes
  JOURNAL   Gene 540 (1), 16-19 (2014)
   PUBMED   24583173
REFERENCE   2  (bases 1 to 4108)
  AUTHORS   Hasson SA, Kane LA, Yamano K, Huang CH, Sliter DA, Buehler E, Wang
            C, Heman-Ackah SM, Hessa T, Guha R, Martin SE and Youle RJ.
  TITLE     High-content genome-wide RNAi screens identify regulators of parkin
            upstream of mitophagy
  JOURNAL   Nature 504 (7479), 291-295 (2013)
   PUBMED   24270810
REFERENCE   3  (bases 1 to 4108)
  AUTHORS   Gourraud PA, Sdika M, Khankhanian P, Henry RG, Beheshtian A,
            Matthews PM, Hauser SL, Oksenberg JR, Pelletier D and Baranzini SE.
  TITLE     A genome-wide association study of brain lesion distribution in
            multiple sclerosis
  JOURNAL   Brain 136 (Pt 4), 1012-1024 (2013)
   PUBMED   23412934
REFERENCE   4  (bases 1 to 4108)
  AUTHORS   Vassilatis DK, Hohmann JG, Zeng H, Li F, Ranchalis JE, Mortrud MT,
            Brown A, Rodriguez SS, Weller JR, Wright AC, Bergmann JE and
            Gaitanaris GA.
  TITLE     The G protein-coupled receptor repertoires of human and mouse
  JOURNAL   Proc Natl Acad Sci U S A 100 (8), 4903-4908 (2003)
   PUBMED   12679517
REFERENCE   5  (bases 1 to 4108)
  AUTHORS   Dong X, Han S, Zylka MJ, Simon MI and Anderson DJ.
  TITLE     A diverse family of GPCRs expressed in specific subsets of
            nociceptive sensory neurons
  JOURNAL   Cell 106 (5), 619-632 (2001)
   PUBMED   11551509
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK293940.1, SRR1660809.330456.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142853,
            SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000389832.7/ ENSP00000374482.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC109309.5.
            On May 17, 2019 this sequence version replaced NM_001039165.3.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..4108
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..4108
                     /gene="MRGPRE"
                     /gene_synonym="GPR167; MGRF; MRGE"
                     /note="MAS related GPR family member E"
                     /db_xref="GeneID:116534"
                     /db_xref="HGNC:HGNC:30694"
                     /db_xref="MIM:607232"
     misc_feature    165..167
                     /gene="MRGPRE"
                     /gene_synonym="GPR167; MGRF; MRGE"
                     /note="upstream in-frame stop codon"
     CDS             339..1277
                     /gene="MRGPRE"
                     /gene_synonym="GPR167; MGRF; MRGE"
                     /note="mas-related G protein-coupled MRGE; G-protein
                     coupled receptor 167; Mas-related G protein-coupled
                     receptor F; MAS-related GPR, member E"
                     /codon_start=1
                     /product="mas-related G-protein coupled receptor member E"
                     /protein_id="NP_001034254.2"
                     /db_xref="CCDS:CCDS41603.2"
                     /db_xref="GeneID:116534"
                     /db_xref="HGNC:HGNC:30694"
                     /db_xref="MIM:607232"
                     /translation="MMEPREAGQHVGAANGAQEDVAFNLIILSLTEGLGLGGLLGNGAV
                     LWLLSSNVYRNPFAIYLLDVACADLIFLGCHMVAIVPDLLQGRLDFPGFVQTSLATLRF
                     FCYIVGLSLLAAVSVEQCLAALFPAWYSCRRPRHLTTCVCALTWALCLLLHLLLSGACT
                     QFFGEPSRHLCRTLWLVAAVLLALLCCTMCGASLMLLLRVERGPQRPPPRGFPGLILLT
                     VLLFLFCGLPFGIYWLSRNLLWYIPHYFYHFSFLMAAVHCAAKPVVYFCLGSAQGRRLP
                     LRLVLQRALGDEAELGAVRETSRRGLVDIAA"
     misc_feature    399..461
                     /gene="MRGPRE"
                     /gene_synonym="GPR167; MGRF; MRGE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SM8.3);
                     transmembrane region"
     misc_feature    516..578
                     /gene="MRGPRE"
                     /gene_synonym="GPR167; MGRF; MRGE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SM8.3);
                     transmembrane region"
     misc_feature    657..719
                     /gene="MRGPRE"
                     /gene_synonym="GPR167; MGRF; MRGE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SM8.3);
                     transmembrane region"
     misc_feature    762..824
                     /gene="MRGPRE"
                     /gene_synonym="GPR167; MGRF; MRGE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SM8.3);
                     transmembrane region"
     misc_feature    867..929
                     /gene="MRGPRE"
                     /gene_synonym="GPR167; MGRF; MRGE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SM8.3);
                     transmembrane region"
     misc_feature    990..1052
                     /gene="MRGPRE"
                     /gene_synonym="GPR167; MGRF; MRGE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SM8.3);
                     transmembrane region"
     misc_feature    1062..1124
                     /gene="MRGPRE"
                     /gene_synonym="GPR167; MGRF; MRGE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86SM8.3);
                     transmembrane region"
     regulatory      4078..4083
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRGPRE"
                     /gene_synonym="GPR167; MGRF; MRGE"
                     /note="hexamer: AATAAA"
     polyA_site      4108
                     /gene="MRGPRE"
                     /gene_synonym="GPR167; MGRF; MRGE"
                     /note="major polyA site"
ORIGIN
        1 gcctgccagg cctgcctgga aggctgcagg gaggttcagg gtttctcttg ctgtccacac
       61 ctgggcgaga gctgagcgga agagaagggg tcctcagaga gacaccttcc tgaccggccc
      121 cattccagct ggatgccatg tgactcggag gagctggtgg acactgaaca ggagccgccc
      181 agaggctctg gggactggag ccctcggccg cggccaggat agatccaagg cccagggtca
      241 gagcaggcag ggctcggcca gtcctctgcc ccaaacgggg catcaggaga gagagcgagc
      301 agaacacact cctgcagcat cccctggccc cccgccccat gatggagccc agagaagctg
      361 gacagcacgt gggggccgcc aacggcgccc aggaggatgt ggccttcaac ctcatcatcc
      421 tgtccctcac cgaggggctc ggcctcggtg ggctgctggg gaatggggca gtcctctggc
      481 tgctcagctc caatgtctac agaaacccct tcgccatcta cctcctggac gtggcctgcg
      541 cggatctcat cttccttggc tgccacatgg tggccatcgt ccccgacttg ctgcaaggcc
      601 ggctggactt cccgggcttc gtgcagacca gcctggcaac gctgcgcttc ttctgctaca
      661 tcgtgggcct gagtctcctg gcggccgtca gcgtggagca gtgcctggcc gccctcttcc
      721 cagcctggta ctcgtgccgc cgcccacgcc acctgaccac ctgtgtgtgc gccctcacct
      781 gggccctctg cctgctgctg cacctgctgc tcagcggcgc ctgcacccag ttcttcgggg
      841 agcccagccg ccacttgtgc cggacgctgt ggctggtggc agcggtgctg ctggctctgc
      901 tgtgttgcac catgtgtggg gccagcctta tgctgctgct gcgggtggag cgaggccccc
      961 agcggccccc accccggggc ttccctgggc tcatcctcct caccgtcctc ctcttcctct
     1021 tctgcggcct gcccttcggc atctactggc tgtcccggaa cctgctctgg tacatccccc
     1081 actacttcta ccacttcagc ttcctcatgg ccgccgtgca ctgcgcggcc aagcccgtcg
     1141 tctacttctg cctgggcagt gcccagggcc gcaggctgcc cctccggctg gtcctccagc
     1201 gagcgctggg agacgaggct gagctggggg ccgtcaggga gacctcccgc cggggcctgg
     1261 tggacatagc agcctgagcc ctggggcccc cgaccccagc tgcagccccc gtgaggcaag
     1321 agggtgactt ggggaaggtg gtggggtcag aggctggggc cagccggacc tggaggaggc
     1381 cttggtgggt gacccggtca tgtgctgtca aagttgtgac ccttggtctg gagcatgagg
     1441 ctcccctggg aggcagctgg aaaggcaagg tctctacatg cccaggcagg cgggccgggt
     1501 ctctggggag aaggccgagg aacgtgcatt tttgggaaac ctccccaacg gttcacgcac
     1561 tggcactcga gagctgctgc tgctacccat tccctgctca gctgcagtga ggagaccccg
     1621 gaaagcaagg aagcaaggcc agacgccagg tgaggggcag gtccaggcct ttccgcaggc
     1681 cacctcccct cccactccag cttcctcaat gctgcaggtg cacccacaga taacacaacc
     1741 atcccctcag ctcgccttgt gcccgctgtg gaagctaaat tgaccctaaa atggaagact
     1801 gcccaaaact tgaccccctc cccgtccttg atcatcagcc agttgctcaa ggccgtgcac
     1861 ctcagaccgg gacgatgcaa ccctcactcg gagcttcaga aaagccggcc ccatgggtgt
     1921 ccctggatat taggagggtg caccctgggt gggtggagag gcttcttaca gccccaccca
     1981 gcagcctgca gccctgtctc cccacaggac ccaggtcttc agcaaccaga aagcttcaca
     2041 ccggccccat ccaaggcagt tcacccgcct ctgtcctgag caagtcccgc tccagaggat
     2101 ccctctgagg aaggaaccca ggcttcaccc ctcaacaggt ttccgagctt ccgctgagtg
     2161 ccaggcctgg ctgccatcca ggagcatgtg ccaggggtgc tagagtgggg gctttggagc
     2221 ccacagcctg ggctgagccc cgctagccac cccactgtgc tgccaaggcc atctctgaac
     2281 atccctacgc ctctgtttgc tggtctgtaa aatatgagaa cccagtgctt tgaggcctgt
     2341 ccagcctctc gtgagcccaa gagaaatgtc tgtcgattct actgccacca acgccacaca
     2401 tccaagtcca cagtgcaatt cttagccaca gaccaaggca tctgagagtg ttttctttga
     2461 tttctgactc cggcctccat ggctggtgat ggaaggacat tccctctgga ccatgactga
     2521 accagcccct cttgagtctg ggtgtgagtc gcagatccct ggtcagcacc ctggaatccg
     2581 gctgcaccgg gcccctccca gcccacacag tgcgttcacc tcaggctccc gcacgtgccc
     2641 agcaggcctg ggtccaggta tcccttgaga ctgggagccc caggggctgg acccacctct
     2701 cctagagcac ctccagcccc cacttgggga cttacctcct cccaaattat ctccagccca
     2761 ggatctgcac agggccctct ctccccacct ccaggacgtg attagcaact tcagttcctc
     2821 agctggagaa acaagaacag aaagggaagt ggcctgtcca caaattccac tttcagcccc
     2881 aggacataaa cttcccccag aacaaggaag aaccaggagg aaaagcacag attcatctca
     2941 cggacatgac ctcaccgtgg acgtgttccc ggggaatcct cgtaataatg taggaaggtg
     3001 ctcccactct gcagatgagc caccaaggct ccgaggggct atgtggccgt tcaggaccac
     3061 aggaaagctg caaagccaga aggtgactcc cagcaccacc ctcccacgcc acacgctccg
     3121 cctcactgga ccagggctgg ctcaggtgtc ctcagcccca cactggctcc cccaaccctg
     3181 gccccatccc cacgcagacc cctttgctgc ataagggttc agagagattg cggaccctta
     3241 gaatgctcac ttcttcccag agagcctgct ctcagcatcc aggggattgg agtggctcta
     3301 gattcctcct tattagcccc ttctcgagga gtccgggaaa tgtggcctca tctgaggtct
     3361 ccatggaaac tgggcccagc tcgtccccac tctagtagct gctgtggcag caggtatatg
     3421 gcctgatggc ccaggatgct ggtggggtat ccccttggcc ccagatgtgc cagcttggcc
     3481 tccagttctg tggtccttga gccctcagga cattaggacc atgtgggctg gcctccaaac
     3541 tggaggctga gcttccgtcc aggctcccac ctgcccctgc ccagcctgcg cctcctctga
     3601 cctcccccgc tgcacctcct cttctgcccc cagagccaca aggccccacc agggacccct
     3661 ggctgcccta gaccccaccc tgcaggaccc tggggcctca ctgctcaaag gccacctcca
     3721 cctgggtcgc aggcaaagct cctcggtcag tgcccagccc accccatcca cccgcaaccc
     3781 cgggcccctg cggggctgcc gcggtcagca cagaattccc aagaacaggc ggctactcct
     3841 gggggcagcc aacattccag ggagcctgtg taacccgctc cgtcctcagg gcccagggag
     3901 gctgtgggtg aggactgtgt gtgtgaggac aggagcggag acaggcctgc ggccagcttc
     3961 cctatcccct ccccagcgcc cgggtacgag tctgtaaatc agcctgcgct gcatggcgtc
     4021 ttcacgggga gaggcaggct cactcctcag ctagttcatt agctcacacg ctggaaaaat
     4081 aaaaccaaac atcacactta aaacatga
//
LOCUS       NM_001039182             375 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens bolA family member 2B (BOLA2B), transcript variant 1,
            mRNA.
ACCESSION   NM_001039182
VERSION     NM_001039182.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 375)
  AUTHORS   Talib EA and Outten CE.
  TITLE     Iron-sulfur cluster biogenesis, trafficking, and signaling: Roles
            for CGFS glutaredoxins and BolA proteins
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1868 (1), 118847 (2021)
   PUBMED   32910989
  REMARK    Review article
REFERENCE   2  (bases 1 to 375)
  AUTHORS   Frey AG, Palenchar DJ, Wildemann JD and Philpott CC.
  TITLE     A Glutaredoxin.BolA Complex Serves as an Iron-Sulfur Cluster
            Chaperone for the Cytosolic Cluster Assembly Machinery
  JOURNAL   J Biol Chem 291 (43), 22344-22356 (2016)
   PUBMED   27519415
REFERENCE   3  (bases 1 to 375)
  AUTHORS   Banci L, Camponeschi F, Ciofi-Baffoni S and Muzzioli R.
  TITLE     Elucidating the Molecular Function of Human BOLA2 in GRX3-Dependent
            Anamorsin Maturation Pathway
  JOURNAL   J Am Chem Soc 137 (51), 16133-16143 (2015)
   PUBMED   26613676
REFERENCE   4  (bases 1 to 375)
  AUTHORS   Willems P, Wanschers BF, Esseling J, Szklarczyk R, Kudla U, Duarte
            I, Forkink M, Nooteboom M, Swarts H, Gloerich J, Nijtmans L, Koopman
            W and Huynen MA.
  TITLE     BOLA1 is an aerobic protein that prevents mitochondrial morphology
            changes induced by glutathione depletion
  JOURNAL   Antioxid Redox Signal 18 (2), 129-138 (2013)
   PUBMED   22746225
REFERENCE   5  (bases 1 to 375)
  AUTHORS   Li H, Mapolelo DT, Randeniya S, Johnson MK and Outten CE.
  TITLE     Human glutaredoxin 3 forms [2Fe-2S]-bridged complexes with human
            BolA2
  JOURNAL   Biochemistry 51 (8), 1687-1696 (2012)
   PUBMED   22309771
REFERENCE   6  (bases 1 to 375)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   7  (bases 1 to 375)
  AUTHORS   Zhou YB, Cao JB, Wan BB, Wang XR, Ding GH, Zhu H, Yang HM, Wang KS,
            Zhang X and Han ZG.
  TITLE     hBolA, novel non-classical secreted proteins, belonging to different
            BolA family with functional divergence
  JOURNAL   Mol Cell Biochem 317 (1-2), 61-68 (2008)
   PUBMED   18548201
REFERENCE   8  (bases 1 to 375)
  AUTHORS   Kasai T, Inoue M, Koshiba S, Yabuki T, Aoki M, Nunokawa E, Seki E,
            Matsuda T, Matsuda N, Tomo Y, Shirouzu M, Terada T, Obayashi N,
            Hamana H, Shinya N, Tatsuguchi A, Yasuda S, Yoshida M, Hirota H,
            Matsuo Y, Tani K, Suzuki H, Arakawa T, Carninci P, Kawai J,
            Hayashizaki Y, Kigawa T and Yokoyama S.
  TITLE     Solution structure of a BolA-like protein from Mus musculus
  JOURNAL   Protein Sci 13 (2), 545-548 (2004)
   PUBMED   14718656
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.446162.1,
            SRR7410570.599686.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000651894.2/ ENSP00000498355.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC137532.1 and AC106782.5.
            On May 17, 2019 this sequence version replaced NM_001039182.3.
            Summary: This gene is located within a region of a segmental
            duplication on chromosome 16 and is identical to BOLA2 (bolA family
            member 2). The product of this gene belongs to a family of proteins
            that are widely conserved and may be involved in iron maturation.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Feb 2016].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..375
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..375
                     /gene="BOLA2B"
                     /gene_synonym="BOLA2"
                     /note="bolA family member 2B"
                     /db_xref="GeneID:654483"
                     /db_xref="HGNC:HGNC:32479"
     CDS             72..332
                     /gene="BOLA2B"
                     /gene_synonym="BOLA2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     bolA-like protein 2B; BolA-like protein 2 member B; bolA
                     homolog 2B"
                     /codon_start=1
                     /product="bolA-like protein 2 isoform 1"
                     /protein_id="NP_001034271.2"
                     /db_xref="CCDS:CCDS32430.2"
                     /db_xref="GeneID:654483"
                     /db_xref="HGNC:HGNC:32479"
                     /translation="MELSAEYLREKLQRDLEAEHVEVEDTTLNRCSCSFRVLVVSAKFE
                     GKPLLQRHRLVNACLAEELPHIHAFEQKTLTPDQWARERQK"
     misc_feature    72..74
                     /gene="BOLA2B"
                     /gene_synonym="BOLA2"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000269|PubMed:12665801; propagated from
                     UniProtKB/Swiss-Prot (Q9H3K6.1); acetylation site"
     regulatory      354..359
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BOLA2B"
                     /gene_synonym="BOLA2"
                     /note="hexamer: ATTAAA"
     polyA_site      375
                     /gene="BOLA2B"
                     /gene_synonym="BOLA2"
                     /note="major polyA site"
ORIGIN
        1 aaggtagcgt ggccggcgcc cgagctgggg ttgtgtccct gctgggctgc cgttccagct
       61 ggactgccgc catggaactc agcgccgaat acctccgcga gaagctgcag cgggacctgg
      121 aggcggagca tgtggaggtg gaggacacga ccctcaaccg ttgctcctgt agcttccgag
      181 tcctggtggt gtcggccaag ttcgagggga aaccgctgct tcagagacac aggctggtga
      241 acgcgtgcct agcagaagag ctcccgcaca tccatgcctt tgaacagaaa accctgaccc
      301 cagaccagtg ggcacgtgag cgacagaaat gagggactgg gatctgcaca gccattaaat
      361 tataaatctg gacca
//
LOCUS       NM_001039199            6224 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens alpha tocopherol transfer protein like (TTPAL),
            transcript variant 2, mRNA.
ACCESSION   NM_001039199
VERSION     NM_001039199.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6224)
  AUTHORS   Arikan Soylemez ESS, Soylemez Z, Cilekar M, Arikan Y, Tokyol C,
            Kenger IH and Solak M.
  TITLE     Investigation of the expression levels of CDH1, FHIT, PTEN, and
            TTPAL genes in colorectal tumors
  JOURNAL   Turk J Med Sci 52 (1), 124-130 (2022)
   PUBMED   36161592
  REMARK    GeneRIF: Investigation of the expression levels of CDH1, FHIT, PTEN,
            and TTPAL genes in colorectal tumors.
REFERENCE   2  (bases 1 to 6224)
  AUTHORS   Liu W, Gou H, Wang X, Li X, Hu X, Su H, Li S and Yu J.
  TITLE     TTPAL promotes gastric tumorigenesis by directly targeting NNMT to
            activate PI3K/AKT signaling
  JOURNAL   Oncogene 40 (49), 6666-6679 (2021)
   PUBMED   34642500
  REMARK    GeneRIF: TTPAL promotes gastric tumorigenesis by directly targeting
            NNMT to activate PI3K/AKT signaling.
REFERENCE   3  (bases 1 to 6224)
  AUTHORS   Gou H, Liang JQ, Zhang L, Chen H, Zhang Y, Li R, Wang X, Ji J, Tong
            JH, To KF, Sung JJY, Chan FKL, Fang JY and Yu J.
  TITLE     TTPAL Promotes Colorectal Tumorigenesis by Stabilizing TRIP6 to
            Activate Wnt/beta-Catenin Signaling
  JOURNAL   Cancer Res 79 (13), 3332-3346 (2019)
   PUBMED   31018940
  REMARK    GeneRIF: High TTPAL expression is associated with Colorectal
            Tumorigenesis.
REFERENCE   4  (bases 1 to 6224)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   5  (bases 1 to 6224)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN,
            Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden
            JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM,
            Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor
            S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh
            VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry
            D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R,
            Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay
            H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce
            CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore
            N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC,
            Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL,
            Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM,
            Bentley DR, Beck S and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.260490.1, CR936621.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000262605.9/ ENSP00000262605.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL132772.14, BP351602.1, AK314045.1 and Z97053.2.
            On Nov 23, 2018 this sequence version replaced NM_001039199.2.
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1, and encodes isoform 1. Variants 1 and 2
            encode the same protein (isoform 1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6224
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..6224
                     /gene="TTPAL"
                     /gene_synonym="C20orf121"
                     /note="alpha tocopherol transfer protein like"
                     /db_xref="GeneID:79183"
                     /db_xref="HGNC:HGNC:16114"
     misc_feature    128..130
                     /gene="TTPAL"
                     /gene_synonym="C20orf121"
                     /note="upstream in-frame stop codon"
     CDS             134..1162
                     /gene="TTPAL"
                     /gene_synonym="C20orf121"
                     /note="isoform 1 is encoded by transcript variant 2;
                     tocopherol (alpha) transfer protein-like"
                     /codon_start=1
                     /product="alpha-tocopherol transfer protein-like isoform 1"
                     /protein_id="NP_001034288.1"
                     /db_xref="CCDS:CCDS13332.2"
                     /db_xref="GeneID:79183"
                     /db_xref="HGNC:HGNC:16114"
                     /translation="MSEESDSLRTSPSVASLSENELPPPPEPPGYVCSLTEDLVTKARE
                     ELQEKPEWRLRDVQALRDMVRKEYPNLSTSLDDAFLLRFLRARKFDYDRALQLLVNYHS
                     CRRSWPEVFNNLKPSALKDVLASGFLTVLPHTDPRGCHVVCIRPDRWIPSNYPITENIR
                     AIYLTLEKLIQSEETQVNGIVILADYKGVSLSKASHFGPFIAKKVIGILQDGFPIRIKA
                     VHVVNEPRIFKGIFAIIKPFLKEKIANRFFLHGSDLNSLHTNLPRSILPKEYGGTAGEL
                     DTATWNAVLLASEDDFVKEFCQPVPACDSILGQTLLPEGLTSDAQCDDSLRAVKSQLYS
                     CY"
     misc_feature    134..226
                     /gene="TTPAL"
                     /gene_synonym="C20orf121"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BTX7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      6202..6207
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTPAL"
                     /gene_synonym="C20orf121"
                     /note="hexamer: AATAAA"
     polyA_site      6224
                     /gene="TTPAL"
                     /gene_synonym="C20orf121"
                     /note="major polyA site"
ORIGIN
        1 gtcacttccg gcgcgagagg ccgggcaggc cgggcaggga gtgcgggtcg gttctgcgtg
       61 cgctgccgga cgaggctccc gccgccgatt gacccgcgct ccgcccgtag tcgggccggg
      121 accttggtag ctaatgtccg aagaaagtga ctctctgaga accagccctt ctgtggcctc
      181 actctctgaa aatgagctgc caccaccacc tgagcctccg ggctatgtgt gctcactgac
      241 agaagacctg gtcaccaaag cccgggaaga gctgcaggaa aagccggaat ggagacttcg
      301 agatgtgcag gcccttcgtg acatggtgcg gaaggagtac cccaacctga gcacatccct
      361 cgacgatgcc ttcctgctgc gcttcctccg agcccgcaag tttgattacg accgggccct
      421 gcagctcctc gtcaactacc acagctgtag aagaagctgg cccgaagtct tcaataactt
      481 gaagccatca gccttaaaag atgtccttgc ttccgggttc ctcaccgtgc tgccccacac
      541 tgaccccagg ggctgccatg tcgtctgcat ccgcccagac agatggatac caagcaacta
      601 tccaattact gaaaacatcc gagccatata cttgacctta gaaaaactca ttcagtctga
      661 agaaacccag gtgaatggaa ttgtaattct tgcagactac aaaggagtga gtttatcaaa
      721 agcatctcac tttggccctt ttatagccaa aaaggtgatt ggcatcctcc aggatggttt
      781 ccccattcgg ataaaagcag tccatgtggt gaatgaacct cgaatattta aaggcatttt
      841 tgccatcata aaaccatttc taaaggagaa aatagcaaac agattcttcc tccatgggtc
      901 tgacttgaac tctctccaca caaaccttcc aagaagcatc ctccccaagg agtatggggg
      961 cacggctggg gagctggaca ctgccacctg gaacgcggta ctgctggctt cagaagacga
     1021 ttttgtgaaa gagttctgcc aacctgttcc tgcctgtgac agcatcctgg gccagacgct
     1081 gctgcccgag ggcctgacct cagatgcaca gtgtgacgac tccttgcgag ctgtgaagtc
     1141 acagctgtac tcctgctact agcccgtccc ccagggtcac catctttaat tcttttcctt
     1201 cttttctttg gagaggcaca aggagaattt aagggtccat ggattcagtc ttgctccttg
     1261 taattaaact gcaggatgga ggaacagcct gagatatgag catgagccca ttttggggta
     1321 agcctttggt tactttaatt actccatgga agacatggaa aatgtcccca ctgattctta
     1381 aacatttgga atcccagtct gcaactatta atctggaggc tatatctatt ttgttttgct
     1441 ttttggttgg ggggtggtga tctggttctt acacatcttg gaagcaagaa caatcaggac
     1501 caaagtcact ttgatcccac ttttccagga gaaaaaccac ctgtttggcc agtgagaact
     1561 acttgtatga aataatttgg ccaaaccttc agtgtgacca aatgtgagac tgggagtttg
     1621 tgtttttcac aggaacccta agtatagacc tctgctgctc atcaggaaac ttactggaga
     1681 tgaaggcccc agctgttgtc accgggtttg gaaagcacct taactgaatc atgtaagcat
     1741 caggacataa gcagcacttt gtggtcaaat gtggaagccg gagacttcaa agcacctctg
     1801 ggacccactg gttgaagttt gcaatagaaa cttaagtttt cccaaatcca taaagcctta
     1861 gccctggttc tcaatagaat cagggaccta gcaggaaatg attttactca acctaaaatg
     1921 ctggatccca ggcccgtgta gctataagaa ttctggcctg gatcccaggt gtacaactat
     1981 ggacaagata tgggcctcta ctttctcctc tataaaatga ggctggatga aatgtcagct
     2041 agggccattt tggctgctga ggctctggga tttggtttag ttactgaatg ttagattttc
     2101 tgcctagaaa gataactatc tagatacaag tggttggatc ctgtttttgt ttgtggtaca
     2161 tgtgtctttc caagagagat gtgtcaccaa ttagccctgc ctttaaagaa actattatgt
     2221 gtattcctgg gactcactga caccaatttt ctttttatag tgatggttca attttgaaaa
     2281 gatggctttt gtgaggccag gttaaggtga ccaggatctt gtatgatgaa ttccttccat
     2341 ccctgagact ctggtactat attgtaaacc tggctacagt agttaattac ttgagattct
     2401 ttaattttgg tctctgagct gggcgtggtg gttcatgcct gtaatcccag cactttggga
     2461 ggccaaggtg tgcggatcac aaggtcagga gttcgagacc cgcctggcca agatggtgaa
     2521 accccatctc tactaaaaat acaaaaatta gctgggcgtg gtggcgggct cctgtagtcc
     2581 cagctactcg ggaggctgag gcagaagaat cacgtgaacc caggaggcag aagtggcagt
     2641 gagccaagat cgcaccactg cactccagcc tgggcgacag agcaagactc tgcctcaaaa
     2701 aaaaaaaaaa aaaaaaaaaa tttttttttt tttggtctct ggaaatgaac acaagggcag
     2761 gttattcctg ggtcacttct gggcccccct gccctcccag ccccacttga gtttctctct
     2821 ctggtgtggg tgaaccagtc agcctgaatg ttctgcattt cagcacttta gaacctccct
     2881 gtgaagattt tagccttagc ccaaacatca aattagacgg ttcacatgat ggtttttgac
     2941 ctatttcctt tctaatgtat tccacatgat catggtgtta aatagtgaaa agtactgtgt
     3001 tgtgtgtgca ccttctccgt gcatttatta gactaaccag tcaagcagac agctcagtta
     3061 gggagaaaac aatactctga aatttgaagg ccaatctgtt gttactaagc tgtttatctc
     3121 tattgccttt ttaaatgtct ggataagttg ttggtggaaa ttaagttact taacctcatt
     3181 aataccaatt ctagagaaag ttcttttcac catggatagt aaccctggat cctctacggt
     3241 actggctgag ctggaagtgc caaaaagcac tcctggctgc ttctggttcc atctgatgat
     3301 gatgtgacac acactgctga aaaggcccaa gcagggcaag tgggatggct gaaggaggga
     3361 aggagggggt tcagaaccca ctggcctgga tgggagaact gggtggaggc ttccccaaga
     3421 gggaagacag ataaacaaaa caaaacaaaa actgggtaaa gaggaatgaa tcactcagcc
     3481 ctgatgtttc aattctacac tgcattcctg gccagtcgca tttgttttaa tgcaggcatg
     3541 gccacagctc tcctagagaa ttatctcaaa gaccagaagg gacctggaga ggcctatttc
     3601 ttaggttttt ccagttggac aaggaaggag tggtttcact cagcttctag aaggagttgg
     3661 agcctaagtt tatctgcctc cgggagctgc ttgctttgtt ttggctccga agaggtatca
     3721 gatagttttg acacctcagg aaacttgaac caagctgtga aaccaagacc tccctgcgtg
     3781 aaaatcaagg tggtctcctt gtggcttcac caggatgttt gtgtcaggct gtctcagcag
     3841 ggtggggaat gaccagccag ggagcacagt gagccttact cagcactggg gagcgcactg
     3901 gtgaggcaaa cccatgaacc tcaagaactg ggagtatgtt ccttcaggga gaagttctgg
     3961 cccattgcac aaacacttgg aaattaactt ttccctaaat tcaagatagt gtggtgtcgg
     4021 aaggaaatgg gacagtaaat taggagacgc gggctccacc tttaccttac tacgtggcct
     4081 ttgatgagct ggcttaacat ccctgagtga ttccatgata gagatctata ctccaaactt
     4141 tattcctggt atctagttgg cttcactgcc acagacactg tactctctct ttttagaagt
     4201 ttttttcctt ttttttcccc ctcaattggc ttatttagta aatttaggtc tgaatgaatt
     4261 ggtacctaaa agcttccaaa tctatacatt tcagaatatg ggaattttct tcctcttctt
     4321 cccccatatc ccaacatgga attctggaaa actgtgcctc ttcccctgtt ctgccttcat
     4381 gggggagaga ctggatgaaa tctacaaaaa cagccaaaag tgccaccctg gcttcatgtc
     4441 ttgaatttct aacttgctct tggcaaaggt cgctttattt tttaattttt ttccttgcat
     4501 tttctttttt attctattgc tgctgcaaaa attaaggcaa aagtagcttt cgatctttca
     4561 tatttcatcc tggtttcaca aggagtcact tatcttagga ggtctgtaag tcaggttaca
     4621 aggccgggag cggtggctca cacctgtaat cccaacactt tgagcggctg aggtgggtgt
     4681 atcacctgaa gtccggagtt tgagaccagc ctggccaaca tggtgaaacc ccgtctctac
     4741 taaaaataca aaaaattggc tgggcatggt ggtgggtgcc tgtaatccca gctacttggg
     4801 aagctgaagc aggagaatca cttaaaccca ggtggcggag gttgcagtga gccgacatcg
     4861 cgccattgca ctccagcctg ggtgacgagt gaaactccat ctcaaaaata aaaattgaaa
     4921 aatcaggtta caaaacacca tttttcccga aataagacaa taagaggctt ttctctgaat
     4981 tcctttatat tgagcctttc agaattctcc ctgggtgggc aatttcttta aatagtattt
     5041 gaccctcaga tcaatcctgg gaattttttt catttgggta gcaaaagcta gagtattgct
     5101 gtggcgatta taatactttt aaaaagtttt accattttaa agttgccaac atttaattaa
     5161 ggttttcctt tgaagcctcc tttaatttag ggagtaaaat gttagctaaa ccaattatat
     5221 actatatact atacactgta tctcctgtgg ccatgagagg tgtggctata ccgaacagaa
     5281 acatgcctac tgttcaggaa agatgtcagt tctggtaaca cctctctgta ttgggatctg
     5341 ttaattttgt aaatctaaat tcttctgctc ttggccaggt gcagtagttc atgccctgta
     5401 atcctagaac tttgggaggc tgaagggggg gcggatcatt tgaggtcagg agtttgagac
     5461 cagcctggcc aacatggtga aaccccatct ctactaaaaa gtacaaaaat tagctgggtg
     5521 tggtggtgcg tgcctgtaat cccaactact tgggaggctg aggcaggaga atcgcttgaa
     5581 cctgggaggc agcggttgca gtaagccaag actatgccac tgcactcccg cctgggtgac
     5641 aaagcaatat tctgtgtcaa ataaataaat tcattcttct gctctcctga cttagagaaa
     5701 tggtttgctt aaaatgctag taacaaacat cacagtcaac aggagcttgc ttcatgcgaa
     5761 ggatcaatgt gatttgtgga tggagatgat agtgatgaaa ttcctgtttc atggggctgt
     5821 ttttcttttc atctcactgg gcagcaggtt tagtgaggca gtgagatgct gctgctgtgg
     5881 attcttgtag ctatgcctcg gcttcttggc atatcaggta ggaacctgtt acaagtgaaa
     5941 tacttgaaac ctctctgacc aagagcctct gatggagtgg gaggtgagct aattctctga
     6001 ccagcttggg gcactgtttc agccactggt cacattcctt gcttcaaact gaaattcagt
     6061 ttggctttga gtatagggat acatggtgga ttcatgtact tcagtgtttg ttttgaccaa
     6121 agtttatttt tctagtgcat tttctaagtc aaagtggtga aaatatgtaa taattttagt
     6181 atgcatgact cagtctgaaa caataaaaat ctctgaaaaa tgtg
//
LOCUS       NM_001039211            3864 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens ATPase family AAA domain containing 3C (ATAD3C), mRNA.
ACCESSION   NM_001039211
VERSION     NM_001039211.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3864)
  AUTHORS   Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I,
            Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson
            D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S,
            McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM,
            Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake
            A, Murayama K, Okazaki Y, Lombes A, Holt IJ, Thorburn DR and
            Spinazzola A.
  TITLE     ATAD3 gene cluster deletions cause cerebellar dysfunction associated
            with altered mitochondrial DNA and cholesterol metabolism
  JOURNAL   Brain 140 (6), 1595-1610 (2017)
   PUBMED   28549128
  REMARK    GeneRIF: ATAD3C region deletions cause cerebellar dysfunction
            associated with altered mitochondrial DNA and cholesterol
            metabolism.
REFERENCE   2  (bases 1 to 3864)
  AUTHORS   Li S and Rousseau D.
  TITLE     [ATAD3, a vital membrane-bound mitochondrial ATPase involved in
            tumor progression]
  JOURNAL   Med Sci (Paris) 27 (12), 1089-1095 (2011)
   PUBMED   22192748
  REMARK    GeneRIF: ATAD3 may therefore be implicated in an unknown but
            essential and growth-linked mitochondrial function existing since
            pluri-cellular -organization and involved in tumorigenesis. Review
            article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK091918.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2159931 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378785.7/ ENSP00000368062.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL391244.11 and AL157945.21.
            On May 17, 2019 this sequence version replaced NM_001039211.2.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..3864
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..3864
                     /gene="ATAD3C"
                     /note="ATPase family AAA domain containing 3C"
                     /db_xref="GeneID:219293"
                     /db_xref="HGNC:HGNC:32151"
                     /db_xref="MIM:617227"
     misc_feature    960..962
                     /gene="ATAD3C"
                     /note="upstream in-frame stop codon"
     CDS             996..2231
                     /gene="ATAD3C"
                     /note="ATPase family, AAA domain containing 3A"
                     /codon_start=1
                     /product="ATPase family AAA domain-containing protein 3C"
                     /protein_id="NP_001034300.2"
                     /db_xref="CCDS:CCDS44039.1"
                     /db_xref="GeneID:219293"
                     /db_xref="HGNC:HGNC:32151"
                     /db_xref="MIM:617227"
                     /translation="MSKDALNLAQMQEQTLQLEQQSKLKQLVNEDLRKQEESVQKHHQT
                     FLESIRAAGTLFGEGFRAFVTDRDKVTATVAGLTLLAVGVYSAKNATAVTGRYIEARLG
                     KPSLVRETSRITVLEALRHPIQQVSRRLLSRPQDVLEGVVLSPSLEARVRDIAIMTRNI
                     KKNRGLYRHILLYGPPGTGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFD
                     WANTSRRGLLLFVDEADAFLRKRATEKISEDLRATLNAFLYRTGQHSNKFMLILASCHP
                     EQFDWAINACIDVMVHFDLPGQEERARLVRMYLNEYVLKPATEGKRRLKLAQFDYGRKC
                     LEIARLTEGMSCRKIAQLAVSWQATAYASKDGVLTEAMMDACVQDFVQQHQQMMRWLKG
                     ERPGPEDEQPSS"
     regulatory      3838..3843
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATAD3C"
                     /note="hexamer: AATAAA"
     polyA_site      3864
                     /gene="ATAD3C"
                     /note="major polyA site"
ORIGIN
        1 cttcatgatt aactccccaa ggtcctgcat attttctcaa tgggccaccg cgcccggcca
       61 gaagattttt atggtaaaat tttgtgatgg gaaaactcat cccggaaaat gttgagacct
      121 gatgctgagt cctcagcagc tcagagaata cgtacttctg tcccaggtca cccaaacatt
      181 gacctgtgtc ggttccccac taggaacaaa atgtaactga ggacgttgtc agatgcttgt
      241 cctcgtcacc ctgagcttgt tggctgctat ctaattctta ttctttcatt ttcttgcccg
      301 cacgttcttg atagcagatc actgacaaca gccattggaa gcttaggaaa agggtatgtg
      361 ccgggcgcgg tggctcacac ctgtaatccc agcactttgg gaggctgagg tgggcggatc
      421 acgaggtcag gagatcgaga ccatcctggc taacacggtg aaaccgtctc tactaaaact
      481 acaaaaatta gccgggtgtg gtggcggtcg cctgtagtcc cagctactcg ggaggctgag
      541 gcaggagagt gacgtgaacc cgagaggtag agcttgcagt aagcagagat catgccactg
      601 cactccagcc tgggccagaa tgagactccg tctcaaaaaa aaaaaaaaaa aaagcatgtg
      661 taacgtgaaa aaatggacac tttagccatc gcctgacttt ctgttgaatt gggaaagagc
      721 ctcctcccgt ccacatggga tggccttcct gatgtggctc tccaagacca tccctggagg
      781 gcataaaacc tcacaaatgc atcaggccgt gtgctgggga tggggcatcg tcacgccagg
      841 tctgactagg aaggaggatg gggaggcagg gctgggggct ttgaggtcga ggcgtggccg
      901 tggattccag aaagcccctt ggctggtgtg cgtgcctgcc cagcggcatc cgtgtatcct
      961 aacacctgcc ctccgtgtcc ctgcatctgc aggccatgtc aaaggacgcc ctgaatctgg
     1021 cgcagatgca ggagcagacg ctgcagttgg agcaacagtc caagctcaaa caacttgtca
     1081 atgaggattt acggaagcag gaggagtccg tgcagaagca ccatcagacc ttcttggagt
     1141 ccatcagggc ggctggcacc ttgtttgggg aaggattccg tgcctttgtg acagaccggg
     1201 acaaagtgac agccacggtg gctgggctga cgctgctggc tgtcggggtc tactcagcca
     1261 agaatgcgac agccgtcact ggccgctaca tcgaggctcg gctggggaag ccgtccctag
     1321 tgagggagac gtcccgcatc acggtgcttg aggcgctgcg gcaccccatc cagcaggtca
     1381 gccggcggct cctcagtcga ccccaggacg tgctggaggg tgttgtgctt agtcccagcc
     1441 tggaagcacg ggtgcgcgac atcgccataa tgacaaggaa catcaagaag aaccggggcc
     1501 tgtacaggca catcctgctg tacgggccac caggcaccgg gaagacgctg tttgccaaga
     1561 aactcgccct gcactcaggc atggactacg ccatcatgac aggcggggac gtggccccca
     1621 tggggcggga aggcgtgacc gccatgcaca agctctttga ctgggccaat accagccggc
     1681 gcggcctcct gctctttgtg gatgaagcgg acgccttcct tcggaagcga gccactgaga
     1741 agataagcga ggacctcagg gccacactga acgccttcct gtaccgcacg ggccagcaca
     1801 gcaacaaatt catgctgatc ctggccagct gccaccccga gcagttcgac tgggccatca
     1861 atgcctgcat cgacgtgatg gtccacttcg acctgccagg gcaggaggag cgggcgcgcc
     1921 tggtgagaat gtatcttaac gagtatgttc ttaagccggc cacagaagga aagcggcgtc
     1981 tgaagctggc ccagtttgac tacgggagga agtgcttaga gatcgctcgg ctgacagagg
     2041 gcatgtcatg ccggaagatc gcacagctgg ccgtgtcctg gcaggccacg gcgtatgcct
     2101 ccaaggacgg ggtcctgacc gaggccatga tggacgcctg cgtgcaagac tttgtccagc
     2161 agcaccagca gatgatgcgc tggctgaagg gggagaggcc tgggcccgag gacgagcaac
     2221 cctcatcctg agtccatggg gagaccacac ctcacggagc ctggccgcgg acccctccca
     2281 cccctgcctt tgcggccccg cacatttagg aaatactccc cgtaataaag tcccacgggg
     2341 gccgcaccgc tgtgtctatt ggctgacacg gggcggggtt tggggccccc taacgtcccc
     2401 ctggggtcaa aggtgacaga aaaggcagaa gctggggctt tctggaggat ttaaccacag
     2461 aggggtgggc ttcacaggag gtggctgcca cggcggggcc gggtgcccgt gccccatcct
     2521 gaggccgtgc atacgcgggt gccccttcgc ctccctcccc tccgccagag ctgcctgtgg
     2581 ccagacacac ggtggaggga agtgcacgcg aaacagacac agcggcttca aatagatgcc
     2641 gcccctgccc gcgctttgca gctagtccct gcaaaccttg atgatggggc tgggcgcggt
     2701 ggctcacgcc tggaatctca gcgaggccaa ggagagtgga tcacctgagg tcgggagttc
     2761 cagaccagcc tggccaacat ggtgaaactc catctctcct aaaaaaaaaa aaaaaaaaaa
     2821 aaaaaaaaaa aaaaaaatta gccggccgtg gtggcaagtg cctgaaatcc caggtactca
     2881 ggaggctgag gcaggagaat cacttgagcc cgggaagtgg aggttgcact gagctgagac
     2941 catggaattg cactgcagca tgggcaacaa gagtcaaact ccctctaaaa aaaaaaaaaa
     3001 aaaaagggcc aggtggcaca tgccggtggt cccagcttct tggcttggag gctgaggtag
     3061 gaggatcgcc tgagcatggg aggcagaggt tgcagtgagc caagatcgca ccattgcact
     3121 ccagcctgga tgatagagtg agactgtacc tctaaataac caaaaccttg attacagcca
     3181 tggggtgggg gtgggggtca ggggcgtctg actatggctg gggaactcat ttggtttttc
     3241 tcctctctta tttttttggg tagagacagg gtccctttgt tgcccaggct ggtctccaac
     3301 tcctgggctc aagcaatcct cctgcctcgg cttcctaaag tgttgggatt acaggcttga
     3361 gccaccgtgc ctggtctgtt tttttttttt ttttggcaat agagtcttgc tcgcccaggg
     3421 tggagtgcag tggtgtgatc tcggctcact gcaacctcca ccttcagggt gtcaggcctc
     3481 tgggcccaag ctaagccatc atatctcctg tgacctgcac ttatacatcc agatggcctg
     3541 aagcaactga agatccacaa aataagtgaa aagagcctta actgatgaca ttccaccatt
     3601 gtgatttgtt tctgccccac cctagctgat caatgtactt tgcaatctcc cccaccctta
     3661 agaaggttct ttgtcattct ccccaccctt gagaatgtac tttgtgagat ccatcccctg
     3721 cccgcaaaac attgtcccta actccaccgc ctatcccaaa acctgtaaga actagtgata
     3781 atcccaccac cctttgctga ctctcttttt gaactcagcc cgcctgcacc caggtgaaat
     3841 aaacagcctt gttgctcaca caaa
//
LOCUS       NM_001039213            1696 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens CEA cell adhesion molecule 16, tectorial membrane
            component (CEACAM16), mRNA.
ACCESSION   NM_001039213
VERSION     NM_001039213.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1696)
  AUTHORS   Zhang Q, Wu K, Zhao C, Xie L, Xiong F, Lan L and Wang Q.
  TITLE     [Identification of a novel mutation of CEACAM16 gene in a Chinese
            family with autosomal dominant nonsyndromic hearing loss]
  JOURNAL   Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 34 (9), 777-781
            (2020)
   PUBMED   33040498
  REMARK    GeneRIF: [Identification of a novel mutation of CEACAM16 gene in a
            Chinese family with autosomal dominant nonsyndromic hearing loss].
REFERENCE   2  (bases 1 to 1696)
  AUTHORS   Yan L, Wang Y, Wang ZZ, Rong YT, Chen LL, Li Q, Liu T, Chen YH, Li
            YD, Huang ZH and Peng J.
  TITLE     Cell motility and spreading promoted by CEACAM6 through cyclin
            D1/CDK4 in human pancreatic carcinoma
  JOURNAL   Oncol Rep 35 (1), 418-426 (2016)
   PUBMED   26497080
  REMARK    GeneRIF: Results confirm that CEACAM6 promoted cell proliferation
            mediated by cyclin D1/CDK4.
REFERENCE   3  (bases 1 to 1696)
  AUTHORS   Wang H, Wang X, He C, Li H, Qing J, Grati M, Hu Z, Li J, Hu Y, Xia
            K, Mei L, Wang X, Yu J, Chen H, Jiang L, Liu Y, Men M, Zhang H, Guan
            L, Xiao J, Zhang J, Liu X and Feng Y.
  TITLE     Exome sequencing identifies a novel CEACAM16 mutation associated
            with autosomal dominant nonsyndromic hearing loss DFNA4B in a
            Chinese family
  JOURNAL   J Hum Genet 60 (3), 119-126 (2015)
   PUBMED   25589040
  REMARK    GeneRIF: Data indicate that a heterozygous missense mutation,
            c.505G>A (p.G169R) in exon 3 of the CEACAM16 gene (carcinoembryonic
            antigen-related cell adhesion molecule 16) was identified in
            autosomal dominant nonsyndromic hearing loss family.
REFERENCE   4  (bases 1 to 1696)
  AUTHORS   Miyashita A, Koike A, Jun G, Wang LS, Takahashi S, Matsubara E,
            Kawarabayashi T, Shoji M, Tomita N, Arai H, Asada T, Harigaya Y,
            Ikeda M, Amari M, Hanyu H, Higuchi S, Ikeuchi T, Nishizawa M, Suga
            M, Kawase Y, Akatsu H, Kosaka K, Yamamoto T, Imagawa M, Hamaguchi T,
            Yamada M, Morihara T, Takeda M, Takao T, Nakata K, Fujisawa Y,
            Sasaki K, Watanabe K, Nakashima K, Urakami K, Ooya T, Takahashi M,
            Yuzuriha T, Serikawa K, Yoshimoto S, Nakagawa R, Kim JW, Ki CS, Won
            HH, Na DL, Seo SW, Mook-Jung I, St George-Hyslop P, Mayeux R, Haines
            JL, Pericak-Vance MA, Yoshida M, Nishida N, Tokunaga K, Yamamoto K,
            Tsuji S, Kanazawa I, Ihara Y, Schellenberg GD, Farrer LA and Kuwano
            R.
  CONSRTM   Alzheimer Disease Genetics Consortium
  TITLE     SORL1 is genetically associated with late-onset Alzheimer's disease
            in Japanese, Koreans and Caucasians
  JOURNAL   PLoS One 8 (4), e58618 (2013)
   PUBMED   23565137
  REMARK    Erratum:[PLoS One. 2013;8(7).
            doi:10.1371/annotation/fcb56ea7-d32a-4e45-818d-39cef330c731.
            Moriaha, Takashi [corrected to Morihara, Takashi]]
REFERENCE   5  (bases 1 to 1696)
  AUTHORS   Kammerer R, Ruttiger L, Riesenberg R, Schauble C, Krupar R, Kamp A,
            Sunami K, Eisenried A, Hennenberg M, Grunert F, Bress A, Battaglia
            S, Schrewe H, Knipper M, Schneider MR and Zimmermann W.
  TITLE     Loss of mammal-specific tectorial membrane component
            carcinoembryonic antigen cell adhesion molecule 16 (CEACAM16) leads
            to hearing impairment at low and high frequencies
  JOURNAL   J Biol Chem 287 (26), 21584-21598 (2012)
   PUBMED   22544735
  REMARK    GeneRIF: CEACAM16 can probably form higher order structures with
            other tectorial membrane proteins such as alpha-tectorin and
            beta-tectorin and influences the physical properties of the
            tectorial membrane
REFERENCE   6  (bases 1 to 1696)
  AUTHORS   Zheng J, Miller KK, Yang T, Hildebrand MS, Shearer AE, DeLuca AP,
            Scheetz TE, Drummond J, Scherer SE, Legan PK, Goodyear RJ,
            Richardson GP, Cheatham MA, Smith RJ and Dallos P.
  TITLE     Carcinoembryonic antigen-related cell adhesion molecule 16 interacts
            with alpha-tectorin and is mutated in autosomal dominant hearing
            loss (DFNA4)
  JOURNAL   Proc Natl Acad Sci U S A 108 (10), 4218-4223 (2011)
   PUBMED   21368133
  REMARK    GeneRIF: data identify CEACAM16 as an alpha-tectorin-interacting
            protein that concentrates at the point of attachment of the TM to
            the stereocilia and, when mutated, results in ADNSHL at the DFNA4
            locus
REFERENCE   7  (bases 1 to 1696)
  AUTHORS   Zebhauser R, Kammerer R, Eisenried A, McLellan A, Moore T and
            Zimmermann W.
  TITLE     Identification of a novel group of evolutionarily conserved members
            within the rapidly diverging murine Cea family
  JOURNAL   Genomics 86 (5), 566-580 (2005)
   PUBMED   16139472
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC144608.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000587331.7/ ENSP00000466561.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC144608.1, AC243964.3 and
            BF589367.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 21, 2018 this sequence version replaced NM_001039213.3.
            Summary: The protein encoded by this gene is a secreted
            glycoprotein that in mouse interacts with tectorial membrane
            proteins in the inner ear. The encoded adhesion protein is found in
            cochlear outer hair cells and appears to be important for proper
            hearing over an extended frequency range. Defects in this gene
            likely are a cause of non-syndromic autosomal dominant hearing
            loss. [provided by RefSeq, May 2012].
FEATURES             Location/Qualifiers
     source          1..1696
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.31-q13.32"
     gene            1..1696
                     /gene="CEACAM16"
                     /gene_synonym="CEAL2; DFNA4B; DFNB113"
                     /note="CEA cell adhesion molecule 16, tectorial membrane
                     component"
                     /db_xref="GeneID:388551"
                     /db_xref="HGNC:HGNC:31948"
                     /db_xref="MIM:614591"
     misc_feature    201..203
                     /gene="CEACAM16"
                     /gene_synonym="CEAL2; DFNA4B; DFNB113"
                     /note="upstream in-frame stop codon"
     CDS             207..1484
                     /gene="CEACAM16"
                     /gene_synonym="CEAL2; DFNA4B; DFNB113"
                     /note="carcinoembryonic antigen like-2 protein;
                     carcinoembryonic antigen related cell adhesion molecule 16"
                     /codon_start=1
                     /product="carcinoembryonic antigen-related cell adhesion
                     molecule 16 precursor"
                     /protein_id="NP_001034302.2"
                     /db_xref="CCDS:CCDS54278.1"
                     /db_xref="GeneID:388551"
                     /db_xref="HGNC:HGNC:31948"
                     /db_xref="MIM:614591"
                     /translation="MALTGYSWLLLSATFLNVGAEISITLEPAQPSEGDNVTLVVHGLS
                     GELLAYSWYAGPTLSVSYLVASYIVSTGDETPGPAHTGREAVRPDGSLDIQGILPRHSG
                     TYILQTFNRQLQTEVGYGHVQVHEILAQPTVLANSTALVERRDTLRLMCSSPSPTAEVR
                     WFFNGGALPVALRLGLSPDGRVLARHGIRREEAGAYQCEVWNPVSVSRSEPINLTVYFG
                     PERVAILQDSTTRTGCTIKVDFNTSLTLWCVSRSCPEPEYVWTFNGQALKNGQDHLNIS
                     SMTAAQEGTYTCIAKNTKTLLSGSASVVVKLSAAAVATMIVPVPTKPTEGQDVTLTVQG
                     YPKDLLVYAWYRGPASEPNRLLSQLPSGTWIAGPAHTGREVGFPNCSLLVQKLNLTDTG
                     RYTLKTVTVQGKTETLEVELQVAPLG"
     sig_peptide     207..266
                     /gene="CEACAM16"
                     /gene_synonym="CEAL2; DFNA4B; DFNB113"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     267..1481
                     /gene="CEACAM16"
                     /gene_synonym="CEAL2; DFNA4B; DFNB113"
                     /product="Carcinoembryonic antigen-related cell adhesion
                     molecule 16. /id=PRO_0000297564"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2WEN9.2)"
     misc_feature    312..314
                     /gene="CEACAM16"
                     /gene_synonym="CEAL2; DFNA4B; DFNB113"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q2WEN9.2); glycosylation site"
     misc_feature    852..854
                     /gene="CEACAM16"
                     /gene_synonym="CEAL2; DFNA4B; DFNB113"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q2WEN9.2); glycosylation site"
     misc_feature    1386..1388
                     /gene="CEACAM16"
                     /gene_synonym="CEAL2; DFNA4B; DFNB113"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q2WEN9.2); glycosylation site"
ORIGIN
        1 ctgcatcctc agcgcctaga acagcacctg gcaaacaata ggtgctcatt cagtatttgt
       61 ccaataagtg aatgagtgat ttactgagca tttactctgc gccagtcgtg gtcctgcggc
      121 agacggagcc gagccccaac caggaaggga gtccgagcac tgggacttca acgccaccat
      181 ctccaagact cggtttgggg tgaaagatgg cgctgactgg gtacagctgg ctgctcctca
      241 gtgccacatt cctgaatgtg ggggccgaga tctctatcac cctggagcct gcccagccga
      301 gcgaagggga caacgtcacg ctggtcgtcc atgggctttc gggggaactg ctcgcctaca
      361 gctggtatgc ggggcccaca ctcagcgtgt catacctggt ggccagctac atcgtgagca
      421 caggcgatga gactcctggc ccggcccaca cggggcggga ggctgtgcgc cccgatggca
      481 gcctggacat ccagggcatc ctgccccggc actcaggcac ctacatcctg cagaccttca
      541 acaggcagtt gcagaccgag gtgggctacg gacacgtgca ggtccatgag atcctggccc
      601 agcccacagt cttggccaac agcacagcgc tggtggaacg tcgagacacc ctgcgcctta
      661 tgtgcagcag ccccagcccc accgccgagg tccgctggtt cttcaacggt ggggccctgc
      721 ccgtcgctct ccgcctgggc ctgtcccctg acggccgggt gctggccagg catggcatcc
      781 gccgggagga ggccggcgcc tatcagtgtg aggtgtggaa cccggtcagt gtcagccgca
      841 gcgagcccat caacctgacc gtgtactttg gcccagagcg tgtggccatc ctccaggatt
      901 ccaccacccg cacaggctgc accatcaaag ttgacttcaa cacgtccctc accctgtggt
      961 gcgtgtccag gtcctgccca gagcccgagt atgtgtggac cttcaacggg caggccctaa
     1021 agaacggcca agaccacctc aacatcagca gcatgacagc cgcccaggag gggacgtaca
     1081 catgtattgc gaagaacacc aagaccctgc tatctggatc tgcctcagtc gtggtcaagc
     1141 tctctgctgc agcagttgcc acgatgatcg tgcccgtgcc caccaagcca acggagggcc
     1201 aggacgtaac actgaccgtg cagggctacc ccaaggacct gctggtctac gcctggtacc
     1261 gcgggcctgc ctccgagccc aaccggctgc tcagccagct gccgtcagga acctggattg
     1321 caggccccgc gcacacaggc cgggaggtgg gcttccccaa ctgctcgctg ttggtgcaga
     1381 agctgaacct cacagacact ggccgctaca cactcaagac tgtcacagtg cagggcaaga
     1441 ctgagacact ggaagtggag ctgcaggtgg cccccctggg gtaacagcgt gaccctggag
     1501 acgtccagag agaagagctc ttcgcaccat cctctggtcc tcgccctctg agtgggaacc
     1561 actcccccac agcgaggatg ccaggctgtg gtcctgctgt tctcctgcct ccaccctaga
     1621 gctagagcca cagggcccca ctccctcgct gagctgttgg ggagccaccg aggccataaa
     1681 cgtcctggtt aatgca
//
LOCUS       NM_001039348            2708 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens EGF containing fibulin extracellular matrix protein 1
            (EFEMP1), transcript variant 2, mRNA.
ACCESSION   NM_001039348
VERSION     NM_001039348.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2708)
  AUTHORS   Woodard DR, Daniel S, Nakahara E, Abbas A, DiCesare SM, Collier GE
            and Hulleman JD.
  TITLE     A loss-of-function cysteine mutant in fibulin-3 (EFEMP1) forms
            aberrant extracellular disulfide-linked homodimers and alters
            extracellular matrix composition
  JOURNAL   Hum Mutat 43 (12), 1945-1955 (2022)
   PUBMED   35998264
  REMARK    GeneRIF: A loss-of-function cysteine mutant in fibulin-3 (EFEMP1)
            forms aberrant extracellular disulfide-linked homodimers and alters
            extracellular matrix composition.
REFERENCE   2  (bases 1 to 2708)
  AUTHORS   Laochareonsuk W, Kayasut K, Surachat K, Chiengkriwate P and
            Sangkhathat S.
  TITLE     Impact of EFEMP1 on the survival outcome of biliary atresia in Thai
            infants
  JOURNAL   Sci Rep 12 (1), 15603 (2022)
   PUBMED   36114336
  REMARK    GeneRIF: Impact of EFEMP1 on the survival outcome of biliary atresia
            in Thai infants. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2708)
  AUTHORS   Guo H, Ji Y, Zhang B and Huang X.
  TITLE     Fibulin-3 sponges Tiam1 to manipulate MMP-7 activity through
            beta-catenin signaling in oral squamous cell carcinoma
  JOURNAL   Med Oncol 39 (10), 154 (2022)
   PUBMED   35852664
  REMARK    GeneRIF: Fibulin-3 sponges Tiam1 to manipulate MMP-7 activity
            through beta-catenin signaling in oral squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2708)
  AUTHORS   Blackburn J, Tarttelin EE, Gregory-Evans CY, Moosajee M and
            Gregory-Evans K.
  TITLE     Transcriptional regulation and expression of the dominant drusen
            gene FBLN3 (EFEMP1) in mammalian retina
  JOURNAL   Invest Ophthalmol Vis Sci 44 (11), 4613-4621 (2003)
   PUBMED   14578376
  REMARK    GeneRIF: The 5' end of the FBLN3 gene has been characterized, and
            the important upstream motifs regulating its transcription have been
            identified.
REFERENCE   5  (bases 1 to 2708)
  AUTHORS   Marmorstein LY, Munier FL, Arsenijevic Y, Schorderet DF, McLaughlin
            PJ, Chung D, Traboulsi E and Marmorstein AD.
  TITLE     Aberrant accumulation of EFEMP1 underlies drusen formation in
            Malattia Leventinese and age-related macular degeneration
  JOURNAL   Proc Natl Acad Sci U S A 99 (20), 13067-13072 (2002)
   PUBMED   12242346
  REMARK    GeneRIF: EFEMP1 has a role in retinal drusen formation and is
            involved in the etiology of macular degeneration and Malattia
            Leventinese.
REFERENCE   6  (bases 1 to 2708)
  AUTHORS   Giltay R, Timpl R and Kostka G.
  TITLE     Sequence, recombinant expression and tissue localization of two
            novel extracellular matrix proteins, fibulin-3 and fibulin-4
  JOURNAL   Matrix Biol 18 (5), 469-480 (1999)
   PUBMED   10601734
REFERENCE   7  (bases 1 to 2708)
  AUTHORS   Stone EM, Lotery AJ, Munier FL, Heon E, Piguet B, Guymer RH,
            Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G,
            Mackey DA, Hageman GS, Bird AC, Sheffield VC and Schorderet DF.
  TITLE     A single EFEMP1 mutation associated with both Malattia Leventinese
            and Doyne honeycomb retinal dystrophy
  JOURNAL   Nat Genet 22 (2), 199-202 (1999)
   PUBMED   10369267
REFERENCE   8  (bases 1 to 2708)
  AUTHORS   Ikegawa S, Toda T, Okui K and Nakamura Y.
  TITLE     Structure and chromosomal assignment of the human S1-5 gene (FBNL)
            that is highly homologous to fibrillin
  JOURNAL   Genomics 35 (3), 590-592 (1996)
   PUBMED   8812496
REFERENCE   9  (bases 1 to 2708)
  AUTHORS   Heon E, Piguet B, Munier F, Sneed SR, Morgan CM, Forni S, Pescia G,
            Schorderet D, Taylor CM, Streb LM, Wiles CD, Nishimura DY, Sheffield
            VC and Stone EM.
  TITLE     Linkage of autosomal dominant radial drusen (malattia leventinese)
            to chromosome 2p16-21
  JOURNAL   Arch Ophthalmol 114 (2), 193-198 (1996)
   PUBMED   8573024
REFERENCE   10  (bases 1 to 2708)
  AUTHORS   Lecka-Czernik B, Lumpkin CK Jr and Goldstein S.
  TITLE     An overexpressed gene transcript in senescent and quiescent human
            fibroblasts encoding a novel protein in the epidermal growth
            factor-like repeat family stimulates DNA synthesis
  JOURNAL   Mol Cell Biol 15 (1), 120-128 (1995)
   PUBMED   7799918
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK312639.1, BC098561.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
            (PMID:12242346)
            MANE Ensembl match :: ENST00000355426.8/ ENSP00000347596.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312639.1, AK290599.1,
            AC010895.8 and U03877.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001039348.2.
            Summary: This gene encodes a member of the fibulin family of
            extracellular matrix glycoproteins. Like all members of this
            family, the encoded protein contains tandemly repeated epidermal
            growth factor-like repeats followed by a C-terminus fibulin-type
            domain. This gene is upregulated in malignant gliomas and may play
            a role in the aggressive nature of these tumors. Mutations in this
            gene are associated with Doyne honeycomb retinal dystrophy.
            Alternatively spliced transcript variants that encode the same
            protein have been described.[provided by RefSeq, Nov 2009].
            Transcript Variant: This variant (2) represents the longer
            transcript. Variants 2 and 3 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2708
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.1"
     gene            1..2708
                     /gene="EFEMP1"
                     /gene_synonym="DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV;
                     S1-5"
                     /note="EGF containing fibulin extracellular matrix protein
                     1"
                     /db_xref="GeneID:2202"
                     /db_xref="HGNC:HGNC:3218"
                     /db_xref="MIM:601548"
     CDS             121..1602
                     /gene="EFEMP1"
                     /gene_synonym="DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV;
                     S1-5"
                     /note="fibulin-3; extracellular protein S1-5; EGF
                     containing fibulin like extracellular matrix protein 1"
                     /codon_start=1
                     /product="EGF-containing fibulin-like extracellular matrix
                     protein 1 precursor"
                     /protein_id="NP_001034437.1"
                     /db_xref="CCDS:CCDS1857.1"
                     /db_xref="GeneID:2202"
                     /db_xref="HGNC:HGNC:3218"
                     /db_xref="MIM:601548"
                     /translation="MLKALFLTMLTLALVKSQDTEETITYTQCTDGYEWDPVRQQCKDI
                     DECDIVPDACKGGMKCVNHYGGYLCLPKTAQIIVNNEQPQQETQPAEGTSGATTGVVAA
                     SSMATSGVLPGGGFVASAAAVAGPEMQTGRNNFVIRRNPADPQRIPSNPSHRIQCAAGY
                     EQSEHNVCQDIDECTAGTHNCRADQVCINLRGSFACQCPPGYQKRGEQCVDIDECTIPP
                     YCHQRCVNTPGSFYCQCSPGFQLAANNYTCVDINECDASNQCAQQCYNILGSFICQCNQ
                     GYELSSDRLNCEDIDECRTSSYLCQYQCVNEPGKFSCMCPQGYQVVRSRTCQDINECET
                     TNECREDEMCWNYHGGFRCYPRNPCQDPYILTPENRCVCPVSNAMCRELPQSIVYKYMS
                     IRSDRSVPSDIFQIQATTIYANTINTFRIKSGNENGEFYLRQTSPVSAMLVLVKSLSGP
                     REHIVDLEMLTVSSIGTFRTSSVLRLTIIVGPFSF"
     sig_peptide     121..171
                     /gene="EFEMP1"
                     /gene_synonym="DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV;
                     S1-5"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     172..1599
                     /gene="EFEMP1"
                     /gene_synonym="DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV;
                     S1-5"
                     /product="EGF-containing fibulin-like extracellular matrix
                     protein 1. /id=PRO_0000007570"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12805.2)"
     misc_feature    865..867
                     /gene="EFEMP1"
                     /gene_synonym="DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV;
                     S1-5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q12805.2); glycosylation site"
     misc_feature    895..1599
                     /gene="EFEMP1"
                     /gene_synonym="DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV;
                     S1-5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12805.2);
                     Region: Mediates interaction with TIMP3.
                     /evidence=ECO:0000269|PubMed:15123717"
     regulatory      2043..2048
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFEMP1"
                     /gene_synonym="DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV;
                     S1-5"
                     /note="hexamer: AATAAA"
     polyA_site      2071
                     /gene="EFEMP1"
                     /gene_synonym="DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV;
                     S1-5"
                     /note="major polyA site"
     regulatory      2139..2144
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFEMP1"
                     /gene_synonym="DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV;
                     S1-5"
                     /note="hexamer: AATAAA"
     polyA_site      2160
                     /gene="EFEMP1"
                     /gene_synonym="DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV;
                     S1-5"
     regulatory      2679..2684
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFEMP1"
                     /gene_synonym="DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV;
                     S1-5"
                     /note="hexamer: AATAAA"
     regulatory      2685..2690
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFEMP1"
                     /gene_synonym="DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV;
                     S1-5"
                     /note="hexamer: AATAAA"
     polyA_site      2700
                     /gene="EFEMP1"
                     /gene_synonym="DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV;
                     S1-5"
     polyA_site      2708
                     /gene="EFEMP1"
                     /gene_synonym="DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV;
                     S1-5"
ORIGIN
        1 agacccacgg ggctgccctc ccctgcgcac tcccctcgct gcccgggccc ggagcgcagc
       61 gcggccgcac aggtattttt gctgtgctgt gcaaggaact ctgctagctc aagattcaca
      121 atgttgaaag cccttttcct aactatgctg actctggcgc tggtcaagtc acaggacacc
      181 gaagaaacca tcacgtacac gcaatgcact gacggatatg agtgggatcc tgtgagacag
      241 caatgcaaag atattgatga atgtgacatt gtcccagacg cttgtaaagg tggaatgaag
      301 tgtgtcaacc actatggagg atacctctgc cttccgaaaa cagcccagat tattgtcaat
      361 aatgaacagc ctcagcagga aacacaacca gcagaaggaa cctcaggggc aaccaccggg
      421 gttgtagctg ccagcagcat ggcaaccagt ggagtgttgc ccgggggtgg ttttgtggcc
      481 agtgctgctg cagtcgcagg ccctgaaatg cagactggcc gaaataactt tgtcatccgg
      541 cggaacccag ctgaccctca gcgcattccc tccaaccctt cccaccgtat ccagtgtgca
      601 gcaggctacg agcaaagtga acacaacgtg tgccaagaca tagacgagtg cactgcaggg
      661 acgcacaact gtagagcaga ccaagtgtgc atcaatttac ggggatcctt tgcatgtcag
      721 tgccctcctg gatatcagaa gcgaggggag cagtgcgtag acatagatga atgtaccatc
      781 cctccatatt gccaccaaag atgcgtgaat acaccaggct cattttattg ccagtgcagt
      841 cctgggtttc aattggcagc aaacaactat acctgcgtag atataaatga atgtgatgcc
      901 agcaatcaat gtgctcagca gtgctacaac attcttggtt cattcatctg tcagtgcaat
      961 caaggatatg agctaagcag tgacaggctc aactgtgaag acattgatga atgcagaacc
     1021 tcaagctacc tgtgtcaata tcaatgtgtc aatgaacctg ggaaattctc atgtatgtgc
     1081 ccccagggat accaagtggt gagaagtaga acatgtcaag atataaatga gtgtgagacc
     1141 acaaatgaat gccgggagga tgaaatgtgt tggaattatc atggcggctt ccgttgttat
     1201 ccacgaaatc cttgtcaaga tccctacatt ctaacaccag agaaccgatg tgtttgccca
     1261 gtctcaaatg ccatgtgccg agaactgccc cagtcaatag tctacaaata catgagcatc
     1321 cgatctgata ggtctgtgcc atcagacatc ttccagatac aggccacaac tatttatgcc
     1381 aacaccatca atacttttcg gattaaatct ggaaatgaaa atggagagtt ctacctacga
     1441 caaacaagtc ctgtaagtgc aatgcttgtg ctcgtgaagt cattatcagg accaagagaa
     1501 catatcgtgg acctggagat gctgacagtc agcagtatag ggaccttccg cacaagctct
     1561 gtgttaagat tgacaataat agtggggcca ttttcatttt agtcttttct aagagtcaac
     1621 cacaggcatt taagtcagcc aaagaatatt gttaccttaa agcactattt tatttataga
     1681 tatatctagt gcatctacat ctctatactg tacactcacc cataattcaa acaattacac
     1741 catggtataa agtgggcatt taatatgtaa agattcaaag tttgtcttta ttactatatg
     1801 taaattagac attaatccac taaactggtc ttcttcaaga gagctaagta tacactatct
     1861 ggtgaaactt ggattctttc ctataaaagt gggaccaagc aatgatgatc ttctgtggtg
     1921 cttaaggaaa cttactagag ctccactaac agtctcataa ggaggcagcc atcataacca
     1981 ttgaatagca tgcaagggta agaatgagtt tttaactgct ttgtaagaaa atggaaaagg
     2041 tcaataaaga tatatttctt tagaaaatgg ggatctgcca tatttgtgtt ggtttttatt
     2101 ttcatatcca gcctaaaggt ggttgtttat tatatagtaa taaatcattg ctgtacaata
     2161 tgctggtttc tgtagggtat ttttaatttt gtcagaaatt ttagattgtg aatattttgt
     2221 aaaaaacagt aagcaaaatt ttccagaatt cccaaaatga accagatatc ccctagaaaa
     2281 ttatactatt gagaaatcta tggggaggat atgagaaaat aaattccttc taaaccacat
     2341 tggaactgac ctgaagaagc aaactcggaa aatataataa catccctgaa ttcaggactt
     2401 ccacaagatg cagaacaaaa tggataaaag gtatttcact ggagaagttt taatttctaa
     2461 gtaaaattta aatcctaaca cttcactaat ttataactaa aatttctcat cttcgtactt
     2521 gatgctcaca gaggaagaaa atgatgatgg tttttattcc tggcatccag agtgacagtg
     2581 aacttaagca aattaccctc ctacccaatt ctatggaata ttttatacgt ctccttgttt
     2641 aaaatgtcac tgctttactt tgatgtatca tatttttaaa taaaaataaa tattccttta
     2701 gaagatca
//
LOCUS       NM_001039355            2291 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens solute carrier family 25 member 29 (SLC25A29),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001039355
VERSION     NM_001039355.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2291)
  AUTHORS   Zhang H, Wang Q, Gu J, Yin L, Liang S, Wu L, Xu H, Zhao C and Gu Y.
  TITLE     Elevated mitochondrial SLC25A29 in cancer modulates metabolic status
            by increasing mitochondria-derived nitric oxide
  JOURNAL   Oncogene 37 (19), 2545-2558 (2018)
   PUBMED   29459713
  REMARK    GeneRIF: Results provide evidence that aberrant elevated SLC25A29 in
            cancer functioned to transport more arginine into mitochondria,
            improved mitochondria-derived nitric oxide levels, thus modulated
            metabolic status to facilitate increased cancer progression.
REFERENCE   2  (bases 1 to 2291)
  AUTHORS   Porcelli V, Fiermonte G, Longo A and Palmieri F.
  TITLE     The human gene SLC25A29, of solute carrier family 25, encodes a
            mitochondrial transporter of basic amino acids
  JOURNAL   J Biol Chem 289 (19), 13374-13384 (2014)
   PUBMED   24652292
  REMARK    GeneRIF: The main physiological role of SLC25A29 is to import basic
            amino acids into mitochondria for mitochondrial protein synthesis
            and amino acid degradation.
REFERENCE   3  (bases 1 to 2291)
  AUTHORS   Palmieri F.
  TITLE     The mitochondrial transporter family SLC25: identification,
            properties and physiopathology
  JOURNAL   Mol Aspects Med 34 (2-3), 465-484 (2013)
   PUBMED   23266187
  REMARK    GeneRIF: Compares and contrasts all the known human SLC25A* genes
            and includes functional information. Review article
REFERENCE   4  (bases 1 to 2291)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer
            JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2291)
  AUTHORS   Camacho JA and Rioseco-Camacho N.
  TITLE     The human and mouse SLC25A29 mitochondrial transporters rescue the
            deficient ornithine metabolism in fibroblasts of patients with the
            hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
  JOURNAL   Pediatr Res 66 (1), 35-41 (2009)
   PUBMED   19287344
  REMARK    GeneRIF: The human and mouse SLC25A29 mitochondrial ornithine
            transporters (designated as ORNT3) rescue the deficient ornithine
            metabolism in fibroblasts of patients with the
            hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
REFERENCE   6  (bases 1 to 2291)
  AUTHORS   Sekoguchi E, Sato N, Yasui A, Fukada S, Nimura Y, Aburatani H, Ikeda
            K and Matsuura A.
  TITLE     A novel mitochondrial carnitine-acylcarnitine translocase induced by
            partial hepatectomy and fasting
  JOURNAL   J Biol Chem 278 (40), 38796-38802 (2003)
   PUBMED   12882971
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK172788.1, AK123821.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000359232.8/ ENSP00000352167.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX247983.1 and CF529947.1.
            On Nov 22, 2018 this sequence version replaced NM_001039355.2.
            Summary: This gene encodes a nuclear-encoded mitochondrial protein
            that is a member of the large family of solute carrier family 25
            (SLC25) mitochondrial transporters. The members of this superfamily
            are involved in numerous metabolic pathways and cell functions.
            This gene product was previously reported to be a mitochondrial
            carnitine-acylcarnitine-like (CACL) translocase (PMID:128829710) or
            an ornithine transporter (designated ORNT3, PMID:19287344),
            however, a recent study characterized the main role of this protein
            as a mitochondrial transporter of basic amino acids, with a
            preference for arginine and lysine (PMID:24652292). Alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Apr 2014].
            Transcript Variant: This variant (1) encodes isoform 1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2291
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.2"
     gene            1..2291
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="solute carrier family 25 member 29"
                     /db_xref="GeneID:123096"
                     /db_xref="HGNC:HGNC:20116"
                     /db_xref="MIM:615064"
     CDS             213..1124
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     carnitine-acylcarnitine translocase like; mitochondrial
                     carnitine/acylcarnitine carrier protein CACL; solute
                     carrier family 25 (mitochondrial carnitine/acylcarnitine
                     carrier), member 29; mitochondrial ornithine transporter 3;
                     mitochondrial basic amino acids transporter"
                     /codon_start=1
                     /product="mitochondrial basic amino acids transporter
                     isoform 1"
                     /protein_id="NP_001034444.1"
                     /db_xref="CCDS:CCDS32156.1"
                     /db_xref="GeneID:123096"
                     /db_xref="HGNC:HGNC:20116"
                     /db_xref="MIM:615064"
                     /translation="MALDFLAGCAGGVAGVLVGHPFDTVKVRLQVQSVEKPQYRGTLHC
                     FKSIIKQESVLGLYKGLGSPLMGLTFINALVFGVQGNTLRALGHDSPLNQFLAGAAAGA
                     IQCVICCPMELAKTRLQLQDAGPARTYKGSLDCLAQIYGHEGLRGVNRGMVSTLLRETP
                     SFGVYFLTYDALTRALGCEPGDRLLVPKLLLAGGTSGIVSWLSTYPVDVVKSRLQADGL
                     RGAPRYRGILDCVHQSYRAEGWRVFTRGLASTLLRAFPVNAATFATVTVVLTYARGEEA
                     GPEGEAVPAAPAGPALAQPSSL"
     misc_feature    216..470
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8R3.2);
                     Region: Solcar 1"
     misc_feature    216..278
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8R3.2);
                     transmembrane region"
     misc_feature    393..455
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8R3.2);
                     transmembrane region"
     misc_feature    480..746
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8R3.2);
                     Region: Solcar 2"
     misc_feature    498..560
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8R3.2);
                     transmembrane region"
     misc_feature    669..728
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8R3.2);
                     transmembrane region"
     misc_feature    765..1037
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8R3.2);
                     Region: Solcar 3"
     misc_feature    771..833
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8R3.2);
                     transmembrane region"
     misc_feature    975..1037
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8R3.2);
                     transmembrane region"
     misc_feature    1056..1121
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N8R3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2268..2273
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="hexamer: AATAAA"
     polyA_site      2291
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="major polyA site"
ORIGIN
        1 agcgagtcag ctgccgccga gggaccagcg cgggtctagc tgctgccgcc atccccacca
       61 tccctgaccg cgcctgcccg ggctccgcgc caggaggagc ggccaggccc agccccggca
      121 ccgcgcgctc ggggaccccg acggcgccca gcccggcgag gggcctcagg gggaggacga
      181 ggaggaaagg cggcctcgcc ggggacccgg ccatggcgct ggacttcttg gctggatgcg
      241 cggggggtgt ggcaggcgtg cttgtgggac acccgtttga cacggtcaag gtacggcttc
      301 aggtccagag cgtggagaag cctcagtacc gcgggacgtt gcactgcttc aagtccatca
      361 tcaagcaaga gagcgtgctg ggcctgtaca agggcctggg ctcgccgctc atggggctca
      421 ccttcatcaa cgcgctggtg ttcggggtgc agggcaacac cctccgggcc ctgggccacg
      481 actcgcccct caaccagttc ctggcaggtg cggcggcggg cgccatccag tgcgtcatct
      541 gctgccccat ggagctggcc aagacgcggc tgcagctgca ggacgcgggc ccagcgcgca
      601 cctacaaggg ctcgctggac tgcctcgcgc agatctacgg gcacgagggt ctgcgtggcg
      661 tcaaccgggg catggtgtcc acgttgctgc gtgagacgcc cagcttcggc gtctacttcc
      721 tcacctatga cgctctcacg cgggcgctgg gctgcgagcc gggcgaccgc ctgctggtgc
      781 ccaagctgct gttggcgggc ggtacgtcag gcatcgtgtc ctggctctct acctatcctg
      841 tggacgtggt caagtcgcgg ctgcaggcgg acggactgcg gggcgccccg cgctaccgcg
      901 gcatcctgga ctgcgtgcac cagagctacc gcgccgaggg ctggcgcgtc ttcacacggg
      961 ggctggcgtc cacgctgctg cgcgccttcc ccgtcaacgc tgccaccttc gccaccgtca
     1021 cggtggtgct cacctacgcg cgcggcgagg aggccgggcc cgagggcgag gctgtgcccg
     1081 ccgcccctgc ggggcctgcc ctggcgcagc cctccagcct gtgacgctca ccccgccctc
     1141 cttccccagg gctccttctc agaaacctgg gacataaatt ggcccctgag tcgattgccc
     1201 tgcttcctgc tgggatgctg cgagctgtgg agtctatcag acgtgggctg aattttgctg
     1261 atcagctggg tagttttggc cgagaactgc acttgcctca gtgttctcat ctatgaaata
     1321 aggaccctca tgcccacact gtagagtcac gaagctcaga gattattccc agcagcagcc
     1381 agcacctggc ctggctgagg ccattgcacc gttatcctgg aaactgaggc agacactcca
     1441 gcccctttct gggatcctgg ccacgtcatt gtgctcctgc cctgcaggct ggctcccggg
     1501 ggtctctgat ggccaaccaa ggggccaccc agggacctct aactccacac atcctccacc
     1561 cgggggggtg gtgggccacc cctctggtct gtgttaggga cagaggaaaa cttggtgtgc
     1621 ctcctggtgt cacagaactg gatcctctgc ataccccagc ttctccacat gccactgcta
     1681 ggggtacccc agctgctgcc actcctgctg gagggtgaac tggggaccct gcaccctccg
     1741 ggaagccatg gagtctgctg gaggcaccat atcagcctgc gggactaggg tggggagcaa
     1801 acaggccagc ggtggaggtc tggacagttc aagtgtgatg cagctgtggc aaggagaaat
     1861 ccttccgcct ctgggcctca ggctgcctgt ccataaaatg gggacatggc cagctgacgg
     1921 acaactgagt ctccggccca cctaccaccg ccagccagga tcccccaaag tgtgcagagg
     1981 gctcagcaga gaacagtatg ggaccccctc accaggcctg gaacacctcc agccacaaag
     2041 aagccaaagg tcagtccctc tgctccccag caaacggtgc ctcccaggca ttctcagtgc
     2101 cagggcttca tccctgtgaa ggcacagggc ctgctagtgg gcacaggggt ggctagttgg
     2161 ggcctggggc agaggagggc tgcaccaggc gtcctgggga atgtgctcag tgaagacgac
     2221 actgggcttt gcacagcctg gtgtcgctgt acagaaactg tcaagggaat aaagtgttct
     2281 ttgtttttta a
//
LOCUS       NM_001039361            1525 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.
ACCESSION   NM_001039361
VERSION     NM_001039361.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1525)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (bases 1 to 1525)
  AUTHORS   Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A,
            Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C,
            Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K,
            Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C,
            Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell
            RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G,
            Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye
            J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V,
            Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M,
            Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J,
            French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM,
            Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S,
            Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD,
            Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood
            J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa
            M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S,
            Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R,
            Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S,
            Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K,
            Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan
            S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G,
            Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce
            CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans
            A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL,
            Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z,
            Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R,
            Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S,
            Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD,
            Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF,
            Pandian RD, Porter KM and Prigmore E.
  TITLE     The DNA sequence and biological annotation of human chromosome 1
  JOURNAL   Nature 441 (7091), 315-321 (2006)
   PUBMED   16710414
  REMARK    Erratum:[Nature. 2006 Oct 26;443(7114):1013. Banerjee, R [added];
            Bryant, SP [added]; Burford, DC [added]; Burrill, WDH [added];
            Clegg, SM [added]; Dhami, P [added]; Dovey, O [added]; Faulkner, LM
            [added]; Gribble, SM [added]; Langford, CF [added]; Pandian, RD
            [added]; Porter, KM [added]; Prigmore, E]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC112208.1, AL049682.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2155590,
            SAMEA2162895 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000235347.4/ ENSP00000235347.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC245034.2.
            On Apr 9, 2014 this sequence version replaced NM_001039361.3.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..1525
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..1525
                     /gene="PRAMEF10"
                     /note="PRAME family member 10"
                     /db_xref="GeneID:343071"
                     /db_xref="HGNC:HGNC:27997"
     misc_feature    54..56
                     /gene="PRAMEF10"
                     /note="upstream in-frame stop codon"
     CDS             81..1505
                     /gene="PRAMEF10"
                     /codon_start=1
                     /product="PRAME family member 10"
                     /protein_id="NP_001034450.3"
                     /db_xref="CCDS:CCDS41255.1"
                     /db_xref="GeneID:343071"
                     /db_xref="HGNC:HGNC:27997"
                     /translation="MSLQAPSRLLELAGQSLLRNQFLTIFTLDELPREVFPLMFMEAFS
                     MRRFEALKLMVQAWPFLRLPLGSLMKTPHLETLQAVLRGLDTLVAQKVRPRRWKLQVLD
                     LRDVDENFWTIWSGARVLSCSPEAMSKRQTVEDCPRMGERQPLKVFIDLCLKESTLDEC
                     LSYLFGWIHYRRGLVHLCCSKVQNYSMPTSSFRNLLERIYPDSIQELEVWKKCSLNKTG
                     KFAPYLSQMSNLRELFLAFGYERELYVSVQWPCIPDLDSPFLCLYYPQMLYIKKISNIK
                     EHLEHLLRYLKNPLGAFIFSDAYLTDRDMECLSQYPSLSQLKELRLIHILMWTTNLEPL
                     GVLLEKVAATLKTLVLKDCRIQDPQLRVLLPALSHCSQLTTFNFHGNETSMNALKDLLR
                     HTRGLSKLGLELYPAPLESLDYKGHVNWEILTPIRAELMRTLREVRQPKRIFFGPVPCP
                     NCGSWPSEKVDFHLCS"
     misc_feature    369..452
                     /gene="PRAMEF10"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4);
                     Region: LRR 1, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    615..689
                     /gene="PRAMEF10"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4);
                     Region: LRR 2, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    690..770
                     /gene="PRAMEF10"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4);
                     Region: LRR 3, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    771..875
                     /gene="PRAMEF10"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4);
                     Region: LRR 4, degenerate.
                     /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    876..953
                     /gene="PRAMEF10"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4);
                     Region: LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    954..1049
                     /gene="PRAMEF10"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4);
                     Region: LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1050..1106
                     /gene="PRAMEF10"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4);
                     Region: LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1122..1205
                     /gene="PRAMEF10"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4);
                     Region: LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
     misc_feature    1206..1280
                     /gene="PRAMEF10"
                     /note="propagated from UniProtKB/Swiss-Prot (O60809.4);
                     Region: LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1"
ORIGIN
        1 ttcctgctta gttcttcctg aggtctgagc accctccaaa ctgagtccag atctgagttt
       61 tccctcggag atttgtcaga atgagcctcc aggccccatc cagactgctg gagctggcag
      121 ggcagagcct gctgaggaac cagttcttga ccatcttcac cctggatgag ctgcccaggg
      181 aggtcttccc tctgatgttc atggaggcct tcagcatgag acgttttgag gccctgaagc
      241 tgatggtgca ggcctggccc ttcctccgcc tccctctggg atccctgatg aagacacctc
      301 atctggagac cttgcaagct gtcctgaggg gacttgatac actggtggcc cagaaggttc
      361 gccccaggag gtggaaactt caagtgctgg atttgaggga tgttgatgag aatttctgga
      421 ccatatggtc tggagccagg gtcctctcct gctccccaga ggccatgagt aagaggcaga
      481 cagtggagga ctgtccaagg atgggagagc gccagccctt gaaggtgttc atagacctct
      541 gcctaaagga aagtacactg gatgaatgcc tgagctacct ttttgggtgg atccactaca
      601 gaagaggcct agtgcacctg tgttgtagta aggtgcagaa ttactcaatg cccacttcaa
      661 gtttcagaaa tctattggaa aggatatacc cagacagtat ccaggagttg gaagtctgga
      721 aaaagtgctc tctcaataaa acgggaaagt ttgcccctta cctgagccag atgagcaatc
      781 ttcgtgaact ctttttagcc ttcggttatg agcgtgagtt gtacgtgagc gtccagtggc
      841 cgtgcattcc tgacttggac tctccattcc tctgcctgta ctacccccag atgctttata
      901 taaaaaagat cagtaatatc aaagagcacc tggagcacct gctcaggtac ctcaagaacc
      961 ccttgggggc ctttatattc agtgatgctt acctaactga tcgggacatg gagtgtctgt
     1021 ctcagtaccc aagcctcagt cagctaaagg agctgcgtct gattcatatc ctaatgtgga
     1081 ccaccaatct tgagcccctt ggagttctgc tggagaaagt tgctgctact ctcaagaccc
     1141 tcgtcttaaa ggactgtcgg atccaggacc cccaactcag ggtcctcctg cctgccctga
     1201 gccactgttc ccagctcacc accttcaact ttcatggaaa tgagacctcc atgaatgctc
     1261 tgaaagacct gctgcgtcac acacgtgggc tgagcaagtt aggcctggag ttgtatcctg
     1321 cccctctgga gagtcttgac tacaagggtc atgtcaattg ggagatcctc accccaattc
     1381 gggctgagct gatgcgtaca ctcagggaag tcaggcagcc caagaggatc ttctttggtc
     1441 ccgtcccttg ccctaactgt ggctcatggc catctgagaa agtggacttc catctttgct
     1501 cctagggaag gcctggttcg tggga
//
LOCUS       NM_001039362            3259 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens ATPase H+ transporting V1 subunit C2 (ATP6V1C2),
            transcript variant 1, mRNA.
ACCESSION   NM_001039362
VERSION     NM_001039362.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3259)
  AUTHORS   Jobst-Schwan T, Klambt V, Tarsio M, Heneghan JF, Majmundar AJ, Shril
            S, Buerger F, Ottlewski I, Shmukler BE, Topaloglu R, Hashmi S,
            Hafeez F, Emma F, Greco M, Laube GF, Fathy HM, Pohl M, Gellermann J,
            Milosevic D, Baum MA, Mane S, Lifton RP, Kane PM, Alper SL and
            Hildebrandt F.
  TITLE     Whole exome sequencing identified ATP6V1C2 as a novel candidate gene
            for recessive distal renal tubular acidosis
  JOURNAL   Kidney Int 97 (3), 567-579 (2020)
   PUBMED   31959358
  REMARK    GeneRIF: Whole exome sequencing identified ATP6V1C2 as a novel
            candidate gene for recessive distal renal tubular acidosis.
REFERENCE   2  (bases 1 to 3259)
  AUTHORS   Couto-Vieira J, Nicolau-Neto P, Costa EP, Figueira FF, Simao TA,
            Okorokova-Facanha AL, Ribeiro Pinto LF and Facanha AR.
  TITLE     Multi-cancer V-ATPase molecular signatures: A distinctive balance of
            subunit C isoforms in esophageal carcinoma
  JOURNAL   EBioMedicine 51, 102581 (2020)
   PUBMED   31901859
  REMARK    GeneRIF: Multi-cancer V-ATPase molecular signatures: A distinctive
            balance of subunit C isoforms in esophageal carcinoma.
REFERENCE   3  (bases 1 to 3259)
  AUTHORS   Yu B, Barbalic M, Brautbar A, Nambi V, Hoogeveen RC, Tang W, Mosley
            TH, Rotter JI, deFilippi CR, O'Donnell CJ, Kathiresan S, Rice K,
            Heckbert SR, Ballantyne CM, Psaty BM and Boerwinkle E.
  CONSRTM   CARDIoGRAM Consortium
  TITLE     Association of genome-wide variation with highly sensitive cardiac
            troponin-T levels in European Americans and Blacks: a meta-analysis
            from atherosclerosis risk in communities and cardiovascular health
            studies
  JOURNAL   Circ Cardiovasc Genet 6 (1), 82-88 (2013)
   PUBMED   23247143
REFERENCE   4  (bases 1 to 3259)
  AUTHORS   Hohn A, Sittig A, Jung T, Grimm S and Grune T.
  TITLE     Lipofuscin is formed independently of macroautophagy and lysosomal
            activity in stress-induced prematurely senescent human fibroblasts
  JOURNAL   Free Radic Biol Med 53 (9), 1760-1769 (2012)
   PUBMED   22982048
REFERENCE   5  (bases 1 to 3259)
  AUTHORS   Rahman S, Ishizuka-Katsura Y, Arai S, Saijo S, Yamato I, Toyama M,
            Ohsawa N, Inoue M, Honda K, Terada T, Shirouzu M, Yokoyama S, Iwata
            S and Murata T.
  TITLE     Expression, purification and characterization of isoforms of
            peripheral stalk subunits of human V-ATPase
  JOURNAL   Protein Expr Purif 78 (2), 181-188 (2011)
   PUBMED   21356312
REFERENCE   6  (bases 1 to 3259)
  AUTHORS   Smith,A.N., Lovering,R.C., Futai,M., Takeda,J., Brown,D. and
            Karet,F.E.
  TITLE     Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit
            genes
  JOURNAL   Mol Cell 12 (4), 801-803 (2003)
   PUBMED   14580332
REFERENCE   7  (bases 1 to 3259)
  AUTHORS   Kawasaki-Nishi S, Nishi T and Forgac M.
  TITLE     Proton translocation driven by ATP hydrolysis in V-ATPases
  JOURNAL   FEBS Lett 545 (1), 76-85 (2003)
   PUBMED   12788495
  REMARK    Review article
REFERENCE   8  (bases 1 to 3259)
  AUTHORS   Smith AN, Borthwick KJ and Karet FE.
  TITLE     Molecular cloning and characterization of novel tissue-specific
            isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and
            their evaluation in autosomal recessive distal renal tubular
            acidosis
  JOURNAL   Gene 297 (1-2), 169-177 (2002)
   PUBMED   12384298
REFERENCE   9  (bases 1 to 3259)
  AUTHORS   Nishi T and Forgac M.
  TITLE     The vacuolar (H+)-ATPases--nature's most versatile proton pumps
  JOURNAL   Nat Rev Mol Cell Biol 3 (2), 94-103 (2002)
   PUBMED   11836511
  REMARK    Review article
REFERENCE   10  (bases 1 to 3259)
  AUTHORS   Dautry-Varsat,A.
  TITLE     Receptor-mediated endocytosis: the intracellular journey of
            transferrin and its receptor
  JOURNAL   Biochimie 68 (3), 375-381 (1986)
   PUBMED   2874839
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: ERR279865.646.1 [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000272238.9/ ENSP00000272238.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092687.3, BX358022.2,
            DB230703.1, AY039759.1 and BC012142.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001039362.1.
            Summary: This gene encodes a component of vacuolar ATPase
            (V-ATPase), a multisubunit enzyme that mediates acidification of
            eukaryotic intracellular organelles. V-ATPase dependent organelle
            acidification is necessary for such intracellular processes as
            protein sorting, zymogen activation, receptor-mediated endocytosis,
            and synaptic vesicle proton gradient generation. V-ATPase is
            composed of a cytosolic V1 domain and a transmembrane V0 domain.
            The V1 domain consists of three A,three B, and two G subunits, as
            well as a C, D, E, F, and H subunit. The V1 domain contains the ATP
            catalytic site. This gene encodes alternate transcriptional splice
            variants, encoding different V1 domain C subunit isoforms.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3259
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.1"
     gene            1..3259
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /note="ATPase H+ transporting V1 subunit C2"
                     /db_xref="GeneID:245973"
                     /db_xref="HGNC:HGNC:18264"
                     /db_xref="MIM:618070"
     misc_feature    111..113
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /note="upstream in-frame stop codon"
     CDS             129..1412
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /EC_number="7.1.2.2"
                     /note="isoform a is encoded by transcript variant 1;
                     V-ATPase C2 subunit; V-type proton ATPase subunit C 2;
                     vacuolar proton pump subunit C 2; ATPase, H+ transporting,
                     lysosomal 42kDa, V1 subunit C2"
                     /codon_start=1
                     /product="V-type proton ATPase subunit C 2 isoform a"
                     /protein_id="NP_001034451.1"
                     /db_xref="CCDS:CCDS42653.1"
                     /db_xref="GeneID:245973"
                     /db_xref="HGNC:HGNC:18264"
                     /db_xref="MIM:618070"
                     /translation="MSEFWLISAPGDKENLQALERMNTVTSKSNLSYNTKFAIPDFKVG
                     TLDSLVGLSDELGKLDTFAESLIRRMAQSVVEVMEDSKGKVQEHLLANGVDLTSFVTHF
                     EWDMAKYPVKQPLVSVVDTIAKQLAQIEMDLKSRTAAYNTLKTNLENLEKKSMGNLFTR
                     TLSDIVSKEDFVLDSEYLVTLLVIVPKPNYSQWQKTYESLSDMVVPRSTKLITEDKEGG
                     LFTVTLFRKVIEDFKTKAKENKFTVREFYYDEKEIEREREEMARLLSDKKQQYQTSCVA
                     LKKGSSTFPDHKVKVTPLGNPDRPAAGQTDRERESEGEGEGPLLRWLKVNFSEAFIAWI
                     HIKALRVFVESVLRYGLPVNFQAVLLQPHKKSSTKRLREVLNSVFRHLDEVAATSILDA
                     SVEIPGLQLNNQDYFPYVYFHIDLSLLD"
     misc_feature    1002..1085
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEY4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1573..1578
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /note="hexamer: AATAAA"
     polyA_site      1610
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
     regulatory      3239..3244
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /note="hexamer: AATAAA"
     polyA_site      3259
                     /gene="ATP6V1C2"
                     /gene_synonym="ATP6C2; VMA5"
                     /note="major polyA site"
ORIGIN
        1 gaagccgctg cctcccggga gccggcagag cgctccggcc ccgcacccgc cgcccgtcgc
       61 ccgcagcccc ctaccgcgcg gcccgcgccc cgccggctcc cgtcactggg taagagaaga
      121 ctggaagcat gtcggagttt tggttaattt ctgcccctgg cgataaggaa aatttgcaag
      181 ctctggagag gatgaatact gtaacctcca agtccaacct gtcttataat accaaattcg
      241 ctattcctga cttcaaggtg gggaccttgg attccctggt tggcctctct gatgagttgg
      301 ggaaactcga cacctttgct gaaagcctca taaggagaat ggctcagagc gtggtggaag
      361 tcatggagga ctcaaagggg aaggtccagg agcacctcct ggcaaacgga gttgacttaa
      421 catcctttgt gacccacttt gaatgggaca tggccaaata tcctgtcaag cagccgctcg
      481 tgagtgtggt ggacacaata gccaagcaac tggcgcagat cgagatggac ctgaagtccc
      541 gaacggccgc ctacaacact ctgaagacaa acctggagaa cctggaaaag aaatccatgg
      601 ggaacctctt cacccggaca ctgagtgata ttgtgagcaa agaggacttc gtgctggatt
      661 ctgaatatct cgtcacactt ctggtcatcg tccccaaacc aaactactca caatggcaaa
      721 aaacctacga atctctctca gacatggtgg tccctcgatc aaccaaactc attactgagg
      781 acaaggaagg gggccttttc actgtgactc tgtttcgaaa agtgattgaa gatttcaaaa
      841 ccaaggccaa agaaaacaag ttcactgttc gtgaatttta ctatgatgag aaggaaattg
      901 aaagggaaag ggaggagatg gccagattgc tgtctgataa gaagcaacag tatcaaactt
      961 cctgtgttgc tcttaaaaag ggatcatcca ccttcccgga ccacaaggtt aaggtaaccc
     1021 cgctaggtaa ccctgatagg cctgctgcgg ggcagaccga cagagagaga gagagtgagg
     1081 gcgagggtga gggccccctg ctgcgctggc tcaaggtgaa cttcagtgaa gccttcattg
     1141 cctggatcca catcaaggcc ctgagagtgt ttgtggagtc cgtgctcagg tatggactac
     1201 cagtgaactt ccaggcagtg ctcctgcagc cgcataagaa gtcatccacc aagcgtttaa
     1261 gagaggttct aaactctgtc ttccgacatc tggatgaagt agccgctaca agtatactgg
     1321 atgcatctgt ggagatcccg ggactgcaac tcaataacca agactatttt ccttatgtct
     1381 acttccatat tgaccttagt cttcttgact agaaaggcca gctggcacct ctgtctcatg
     1441 ttcgtgcaga ttattacaga cacctctttc ctttagccag agaatggttc aaatgtctta
     1501 cagaactaag atctttttca gagaaattgc tcacaaaagt tagtgacagt tgtatttatt
     1561 tttttaagtt acaataaaat gctctcaagt cctttgaatg ttccaacaaa ttcaaaactt
     1621 cattttctga atgttttaca taaatgcgaa ctacctgttc gcattggtaa cctgctgctg
     1681 tatttcatgt cttaacggct attttgaggt tcattaacaa catagaaagc cttgaactgt
     1741 ataaccagct agattcctta ataattagtc actagagaca gcccaaagac aaatattggg
     1801 caggaaatca gttctcactg agcccggttt ccatgtaaaa tctctgttgt ggtgggcata
     1861 ggtggcacca tctaaagaaa agaggtcttg ttttttgttt aaaaaagttt gtggggagga
     1921 aagacatctg tgtatcactt caaaatattg atttactgct aaacatcact ctgaatttat
     1981 gatgtggata ctaacttcat acatttatcg gcattgtcca aaatatttta ttctttaatg
     2041 gaaaaagcca ttaatattca aatgaaggga tcacattaaa aaaaacccat acataagaaa
     2101 cagcctccaa gaacattcaa gcagcagtca gagagaaaaa tgtttcgaca gccaagtttt
     2161 cttcaaaata ttatgtgaca gaatacgact caattcaccg gctacaacaa ttcatagaat
     2221 ttttcaatgt tttcttgaga tgcaaaagtt cactgttgca gtgttttcaa atgaccaatc
     2281 aagtactact tcttggttaa aaggccactg gtagagtcat ctgagtgtag agaatgtccc
     2341 ttcactgctg gaaaaatcca ctggctccca agaaaagaaa atggtctgaa gcctctgttg
     2401 tggctctcac aactcatctt tccctaagtc atcaagctcc acatcactga ggtcaatgtc
     2461 atcctccacg ggaagctggg agacgacaga aagccactgt tagatctgca gaaggggaca
     2521 ccctggaagg tcaacatctc attttatgga agagcgactc tctggagcta ctcctgctac
     2581 aatccaggtt ctcctcagtc tgactcctac cctgaccttc gtacctatga ttatacggat
     2641 ggaaaagctc agaactcagg tgaaacattt caacatcaca tcactcacca ttttaacact
     2701 ggaagccact tgaacgtgtc cttttgagga gggtgggaca caacagtaca gaaataagtg
     2761 ctaatttcaa agctatcatt ttctattttt ctaagataaa gtaaatgaat tccaggttaa
     2821 atgttcactt taaggtaata atcaggaaag caaccttact actgaaatgt atcttggctg
     2881 tcaagagtat caaatgccat gcagcactta aacttgtgat aaggaagatg aagggtcttc
     2941 agagaagaac ctcttaaaag gcccacgggt gcaccagggc tgaggtctga tgggaaggac
     3001 ttgactccag gtgcagagat gcacaggctc aagagagtaa accaggactg ctgcccgcac
     3061 agcttccctc ccgggcactc acctcgccat ccctgccgtc ccaaggctct ctctcaacga
     3121 tggtagggaa agccccgcct cctacaggtg ccgtggagcc acgcccaaaa gagagctccc
     3181 ttagggaaaa atgaccaaaa cacacacaca catttacaat ggactgctgg tgcagaagaa
     3241 taaacaactt taaaaataa
//
LOCUS       NM_001039372            2145 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant
            1, mRNA.
ACCESSION   NM_001039372
VERSION     NM_001039372.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2145)
  AUTHORS   Kim SJ, Kim SY, Kim JH and Kim DJ.
  TITLE     Effects of smoking cessation on gene expression in human leukocytes
            of chronic smoker
  JOURNAL   Psychiatry Investig 11 (3), 290-296 (2014)
   PUBMED   25110502
REFERENCE   2  (bases 1 to 2145)
  AUTHORS   Ozaki Y, Matsui H, Asou H, Nagamachi A, Aki D, Honda H, Yasunaga S,
            Takihara Y, Yamamoto T, Izumi S, Ohsugi M and Inaba T.
  TITLE     Poly-ADP ribosylation of Miki by tankyrase-1 promotes centrosome
            maturation
  JOURNAL   Mol Cell 47 (5), 694-706 (2012)
   PUBMED   22864114
  REMARK    GeneRIF: The data suggest that PARsylation of Miki by tankyrase-1 is
            a key initial event promoting prometaphase.
REFERENCE   3  (bases 1 to 2145)
  AUTHORS   Saugier-Veber P, Doummar D, Barthez MA, Czernecki V, Drouot N,
            Apartis E, Burglen L, Frebourg T and Roze E.
  TITLE     Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion
  JOURNAL   Am J Med Genet A 152A (5), 1244-1249 (2010)
   PUBMED   20425829
REFERENCE   4  (bases 1 to 2145)
  AUTHORS   Asou H, Matsui H, Ozaki Y, Nagamachi A, Nakamura M, Aki D and Inaba
            T.
  TITLE     Identification of a common microdeletion cluster in 7q21.3 subband
            among patients with myeloid leukemia and myelodysplastic syndrome
  JOURNAL   Biochem Biophys Res Commun 383 (2), 245-251 (2009)
   PUBMED   19358830
REFERENCE   5  (bases 1 to 2145)
  AUTHORS   Ma Y, Qi X, Du J, Song S, Feng D, Qi J, Zhu Z, Zhang X, Xiao H, Han
            Z and Hao X.
  TITLE     Identification of candidate genes for human pituitary development by
            EST analysis
  JOURNAL   BMC Genomics 10, 109 (2009)
   PUBMED   19284880
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2145)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK096002.1, DRR138510.30511.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968540
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000394468.7/ ENSP00000377980.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK096002.1 and AC000119.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001039372.3.
            Summary: This gene encodes a protein related to the immunoglobulin
            superfamily that plays a role in mitosis. Knockdown of this gene
            results in prometaphase arrest, abnormal nuclear morphology and
            apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes
            its translocation to centrosomes, which may stimulate centrosome
            maturation. A chromosomal deletion including this gene may be
            associated with myeloid leukemia and myelodysplastic syndrome in
            human patients. [provided by RefSeq, Oct 2016].
            Transcript Variant: This variant (1) encodes isoform 1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2145
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.2"
     gene            1..2145
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="HEPACAM family member 2"
                     /db_xref="GeneID:253012"
                     /db_xref="HGNC:HGNC:27364"
                     /db_xref="MIM:614133"
     misc_feature    3..5
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="upstream in-frame stop codon"
     CDS             24..1412
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; mitotic kinetics regulator"
                     /codon_start=1
                     /product="HEPACAM family member 2 isoform 1 precursor"
                     /protein_id="NP_001034461.1"
                     /db_xref="CCDS:CCDS43616.1"
                     /db_xref="GeneID:253012"
                     /db_xref="HGNC:HGNC:27364"
                     /db_xref="MIM:614133"
                     /translation="MGQDAFMEPFGDTLGVFQCKIYLLLFGACSGLKVTVPSHTVHGVR
                     GQALYLPVHYGFHTPASDIQIIWLFERPHTMPKYLLGSVNKSVVPDLEYQHKFTMMPPN
                     ASLLINPLQFPDEGNYIVKVNIQGNGTLSASQKIQVTVDDPVTKPVVQIHPPSGAVEYV
                     GNMTLTCHVEGGTRLAYQWLKNGRPVHTSSTYSFSPQNNTLHIAPVTKEDIGNYSCLVR
                     NPVSEMESDIIMPIIYYGPYGLQVNSDKGLKVGEVFTVDLGEAILFDCSADSHPPNTYS
                     WIRRTDNTTYIIKHGPRLEVASEKVAQKTMDYVCCAYNNITGRQDETHFTVIITSVGLE
                     KLAQKGKSLSPLASITGISLFLIISMCLLFLWKKYQPYKVIKQKLEGRPETEYRKAQTF
                     SGHEDALDDFGIYEFVAFPDVSGVSRIPSRSVPASDCVSGQDLHSTVYEVIQHIPAQQQ
                     DHPE"
     sig_peptide     24..116
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (A8MVW5.1)"
     mat_peptide     117..1409
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /product="HEPACAM family member 2. /id=PRO_0000332220"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MVW5.1)"
     misc_feature    276..278
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A8MVW5.1); glycosylation site"
     misc_feature    408..410
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A8MVW5.1); glycosylation site"
     misc_feature    516..518
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A8MVW5.1); glycosylation site"
     misc_feature    981..983
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A8MVW5.1); glycosylation site"
     misc_feature    1077..1139
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MVW5.1);
                     transmembrane region"
     regulatory      2068..2073
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="hexamer: AATAAA"
     polyA_site      2093
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="major polyA site"
     regulatory      2120..2125
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="hexamer: AGTAAA"
     polyA_site      2145
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
ORIGIN
        1 actgagaaca gggcactgca tgcatgggac aggatgcttt catggagccc ttcggtgaca
       61 cacttggggt ctttcagtgc aaaatatacc tccttctctt cggtgcttgc tcggggctga
      121 aggtgacagt gccatcacac actgtccatg gcgtcagagg tcaggccctc tacctacccg
      181 tccactatgg cttccacact ccagcatcag acatccagat catatggcta tttgagagac
      241 cccacacaat gcccaaatac ttactgggct ctgtgaataa gtctgtggtt cctgacttgg
      301 aataccaaca caagttcacc atgatgccac ccaatgcatc tctgcttatc aacccactgc
      361 agttccctga tgaaggcaat tacatcgtga aggtcaacat tcagggaaat ggaactctat
      421 ctgccagtca gaagatacaa gtcacggttg atgatcctgt cacaaagcca gtggtgcaga
      481 ttcatcctcc ctctggggct gtggagtatg tggggaacat gaccctgaca tgccatgtgg
      541 aagggggcac tcggctagct taccaatggc taaaaaatgg gagacctgtc cacaccagct
      601 ccacctactc cttttctccc caaaacaata cccttcatat tgctccagta accaaggaag
      661 acattgggaa ttacagctgc ctggtgagga accctgtcag tgaaatggaa agtgatatca
      721 ttatgcccat catatattat ggaccttatg gacttcaagt gaattctgat aaagggctaa
      781 aagtagggga agtgtttact gttgaccttg gagaggccat cctatttgat tgttctgctg
      841 attctcatcc ccccaacacc tactcctgga ttaggaggac tgacaatact acatatatca
      901 ttaagcatgg gcctcgctta gaagttgcat ctgagaaagt agcccagaag acaatggact
      961 atgtgtgctg tgcttacaac aacataaccg gcaggcaaga tgaaactcat ttcacagtta
     1021 tcatcacttc cgtaggactg gagaagcttg cacagaaagg aaaatcattg tcacctttag
     1081 caagtataac tggaatatca ctatttttga ttatatccat gtgtcttctc ttcctatgga
     1141 aaaaatatca accctacaaa gttataaaac agaaactaga aggcaggcca gaaacagaat
     1201 acaggaaagc tcaaacattt tcaggccatg aagatgctct ggatgacttc ggaatatatg
     1261 aatttgttgc ttttccagat gtttctggtg tttccaggat cccaagcagg tctgttccag
     1321 cctctgattg tgtatcgggg caagatttgc acagtacagt gtatgaagtt attcagcaca
     1381 tccctgccca gcagcaagac catccagagt gaactttcat gggctaaaca gtacattcga
     1441 gtgaaattct gaagaaacat tttaaggaaa aacagtggaa aagtatatta atctggaatc
     1501 agtgaagaaa ccaagaccaa cacctcttac tcattattcc tttacatgca gaatagaggc
     1561 atttatgcaa attgaactgc aggtttttca gcatatacac aatgtcttgt gcaacagaaa
     1621 aacatgttgg ggaaatattc ctcagtggag agtcgttctc atgctgacgg ggagaacgaa
     1681 agtgacaggg gtttcctcat aagttttgta tgaaatatct ctacaaacct caattagttc
     1741 tactctacac tttcactatc atcaacactg agactatcct gtctcaccta caaatgtgga
     1801 aactttacat tgttcgattt ttcagcagac tttgttttat taaattttta ttagtgttaa
     1861 gaatgctaaa tttatgtttc aattttattt ccaaatttct atcttgttat ttgtacaaca
     1921 aagtaataag gatggttgtc acaaaaacaa aactatgcct tctctttttt ttcaatcacc
     1981 agtagtattt ttgagaagac ttgtgaacac ttaaggaaat gactattaaa gtcttatttt
     2041 tatttttttc aaggaaagat ggattcaaat aaattattct gtttttgctt ttatgtggtc
     2101 ttaattcttt gtcttgtaga gtaaaaatat tacataaaaa tcaga
//
LOCUS       NM_001039374            1716 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens coiled-coil domain containing 183 (CCDC183), mRNA.
ACCESSION   NM_001039374
VERSION     NM_001039374.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1716)
  AUTHORS   Casabonne D, Reina O, Benavente Y, Becker N, Maynadie M, Foretova L,
            Cocco P, Gonzalez-Neira A, Nieters A, Boffetta P, Middeldorp JM and
            de Sanjose S.
  TITLE     Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9)
            and tumor protein 73 (TP73) interact with Epstein-Barr virus in
            chronic lymphocytic leukemia: results from the European case-control
            study EpiLymph
  JOURNAL   Haematologica 96 (2), 323-327 (2011)
   PUBMED   21048031
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC137318.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000338005.7/ ENSP00000338013.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB446839.1, BC137318.1, DA235138.1, BC007542.1 and AW572474.1.
            On May 17, 2019 this sequence version replaced NM_001039374.4.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1716
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..1716
                     /gene="CCDC183"
                     /gene_synonym="bA216L13.7; KIAA1984; PARF"
                     /note="coiled-coil domain containing 183"
                     /db_xref="GeneID:84960"
                     /db_xref="HGNC:HGNC:28236"
                     /db_xref="MIM:615955"
     misc_feature    22..24
                     /gene="CCDC183"
                     /gene_synonym="bA216L13.7; KIAA1984; PARF"
                     /note="upstream in-frame stop codon"
     CDS             61..1665
                     /gene="CCDC183"
                     /gene_synonym="bA216L13.7; KIAA1984; PARF"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 183"
                     /protein_id="NP_001034463.4"
                     /db_xref="CCDS:CCDS43906.1"
                     /db_xref="GeneID:84960"
                     /db_xref="HGNC:HGNC:28236"
                     /db_xref="MIM:615955"
                     /translation="MRRHSETDVEEQTQELKTITQLQEQCRALQIQGVKENMDQNKATL
                     ALLRSNIRRGAQDWALAKKYDQWTISKACGKNLPLRLAHCRSTMEVVREKLRKYVFDRV
                     NMHNLLIHLVRRRGQKLESMQLELDSLRSQPDASKEELRLLQIIRQLENNIEKTMIKII
                     TSQNIHLLYLDLLDYLKTVLAGYPIELDKLQNLVVNYCSELSDMKIMSQDAMMITDEVK
                     RNMRQREASFIEERRARENRLNQQKKLIDKIHTKETSEKYRRGQMDLDFPSNLMSTETL
                     KLRRKETSTAEMEYQSGVTAVVEKVKSAVRCSHVWDITSRFLAQRNTEENLELQMEDCE
                     EWRVQLKALVKQLELEEAVLKFRQKPSSISFKSVEKKMTDMLKEEEERLQLAHSNMTKG
                     QELLLTIQMGIDNLYVRLMGINLPATQREVVLSNTLDLNSKLAYCEGKLTYLADRVQMV
                     SRTEEGDTKVRDTLESSTLMEKYNTRISFENREEDMIDTFQFPDMDHSYVPSRAEIKRQ
                     AQRLIEGKLKAAKKKKK"
     regulatory      1698..1703
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC183"
                     /gene_synonym="bA216L13.7; KIAA1984; PARF"
                     /note="hexamer: AATAAA"
     polyA_site      1716
                     /gene="CCDC183"
                     /gene_synonym="bA216L13.7; KIAA1984; PARF"
                     /note="major polyA site"
ORIGIN
        1 aagctgagcc cagggaggct ttgaggtaca cagggtccct tggggggcct gagagcagcc
       61 atgaggaggc acagtgagac agatgtggaa gagcagaccc aggagctgaa gaccatcact
      121 cagctccagg agcagtgtcg ggcactccag atccaagggg tgaaagagaa tatggaccag
      181 aacaaggcca cgctggccct cctgcgcagc aacatccgcc gcggggccca ggactgggct
      241 ttggccaaga agtatgacca gtggaccatc tccaaggcct gcgggaaaaa cttgcctttg
      301 cgactggcgc actgccgcag caccatggag gtggtgcggg agaagctgcg caagtacgtc
      361 ttcgaccgcg tgaacatgca caacctactg atccacctgg tgcggcggcg cgggcagaag
      421 ctggagagca tgcagctgga gctggacagc ctgcggagcc agcccgacgc cagcaaggag
      481 gagctgcggc tgctgcagat catccgccag ctggagaaca acatcgagaa gacaatgatc
      541 aagatcatca ccagccagaa catccacctg ctgtatttgg acctgctgga ttatctgaag
      601 acagtgctgg caggataccc cattgagctg gacaagctgc agaacctcgt ggtcaactac
      661 tgctcagagc tgtcggatat gaagatcatg tcccaagatg ccatgatgat cacggatgag
      721 gtcaagagga acatgaggca aagggaggcg tccttcatcg aggagcgccg ggcaagggag
      781 aaccggctca accagcagaa gaagctgatc gacaagatcc acacgaagga gaccagcgag
      841 aagtaccgcc ggggccagat ggacttggac ttcccctcga acctgatgag cacggagacc
      901 ctgaaattga ggagaaaaga gacctccaca gcagaaatgg aataccagtc gggcgtgact
      961 gctgtggtgg agaaggtcaa gagtgctgta cggtgctctc acgtctggga catcactagc
     1021 cgcttcctgg cccagaggaa cacggaggag aacctggagc tgcagatgga ggactgtgag
     1081 gagtggcggg tgcagctgaa ggccctggtg aagcagctgg agctggagga ggccgtgctc
     1141 aagttccgcc agaagcctag ctccatcagc ttcaagtccg ttgagaagaa aatgacagac
     1201 atgctaaaag aggaagaaga gaggctccag ctggcgcaca gcaacatgac caagggccag
     1261 gagctgctgc tgaccatcca gatgggcatc gacaacctct atgtccggct gatgggcatt
     1321 aacttgcctg cgacccagag agaagtggtg ctctccaaca ccctcgattt gaacagcaag
     1381 ctggcgtact gcgaggggaa gctcacgtac ctggctgaca gagtgcagat ggtgtccagg
     1441 accgaggagg gcgacacaaa ggtgagggac accctggagt cctcgactct gatggagaag
     1501 tacaacacca ggatcagctt tgagaaccgg gaggaggata tgatcgacac cttccagttc
     1561 cccgacatgg accacagcta cgtcccttcg cgcgccgaga tcaagaggca ggcgcagcgg
     1621 ctaatcgagg ggaagctcaa ggcggccaag aaaaagaaga agtagccccg ccgccccgct
     1681 ccctgctttg ctacacaaat aaacattttt ccagga
//
LOCUS       NM_001039396            4418 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens macrophage expressed 1 (MPEG1), mRNA.
ACCESSION   NM_001039396
VERSION     NM_001039396.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4418)
  AUTHORS   Pastar I, Sawaya AP, Marjanovic J, Burgess JL, Strbo N, Rivas KE,
            Wikramanayake TC, Head CR, Stone RC, Jozic I, Stojadinovic O,
            Kornfeld EY, Kirsner RS, Lev-Tov H and Tomic-Canic M.
  TITLE     Intracellular Staphylococcus aureus triggers pyroptosis and
            contributes to inhibition of healing due to perforin-2 suppression
  JOURNAL   J Clin Invest 131 (24) (2021)
   PUBMED   34730110
  REMARK    GeneRIF: Intracellular Staphylococcus aureus triggers pyroptosis and
            contributes to inhibition of healing due to perforin-2 suppression.
REFERENCE   2  (bases 1 to 4418)
  AUTHORS   Merselis LC, Rivas ZP and Munson GP.
  TITLE     Breaching the Bacterial Envelope: The Pivotal Role of Perforin-2
            (MPEG1) Within Phagocytes
  JOURNAL   Front Immunol 12, 597951 (2021)
   PUBMED   33692780
  REMARK    GeneRIF: Breaching the Bacterial Envelope: The Pivotal Role of
            Perforin-2 (MPEG1) Within Phagocytes. Review article Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 4418)
  AUTHORS   Merselis LC, Jiang SY, Nelson SF, Lee H, Prabaker KK, Baker JL,
            Munson GP and Butte MJ.
  TITLE     MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin
            Infections and Considerations for Interferon-gamma Therapy
  JOURNAL   Front Immunol 11, 601584 (2020)
   PUBMED   33224153
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4418)
  AUTHORS   Kattel S, Bhatt H, Xu S, Gurung S, Pokharel S and Sharma UC.
  TITLE     Macrophage-specific protein perforin-2 is associated with poor
            neurological recovery and reduced survival after sudden cardiac
            arrest
  JOURNAL   Resuscitation 155, 180-188 (2020)
   PUBMED   32828820
  REMARK    GeneRIF: Macrophage-specific protein perforin-2 is associated with
            poor neurological recovery and reduced survival after sudden cardiac
            arrest.
REFERENCE   5  (bases 1 to 4418)
  AUTHORS   Strbo N, Pastar I, Romero L, Chen V, Vujanac M, Sawaya AP, Jozic I,
            Ferreira ADF, Wong LL, Head C, Stojadinovic O, Garcia D, O'Neill K,
            Drakulich S, Taller S, Kirsner RS and Tomic-Canic M.
  TITLE     Single cell analyses reveal specific distribution of anti-bacterial
            molecule Perforin-2 in human skin and its modulation by wounding and
            Staphylococcus aureus infection
  JOURNAL   Exp Dermatol 28 (3), 225-232 (2019)
   PUBMED   30609079
REFERENCE   6  (bases 1 to 4418)
  AUTHORS   McCormack R and Podack ER.
  TITLE     Perforin-2/Mpeg1 and other pore-forming proteins throughout
            evolution
  JOURNAL   J Leukoc Biol 98 (5), 761-768 (2015)
   PUBMED   26307549
  REMARK    GeneRIF: the impact of Perforin-2/macrophage-expressed protein 1
            from the earliest multicellular organisms to modern vertebrates, as
            well as review the development of other membrane attack complexes of
            complement and Perforin domain member proteins Review article
REFERENCE   7  (bases 1 to 4418)
  AUTHORS   McCormack RM, de Armas LR, Shiratsuchi M, Fiorentino DG, Olsson ML,
            Lichtenheld MG, Morales A, Lyapichev K, Gonzalez LE, Strbo N,
            Sukumar N, Stojadinovic O, Plano GV, Munson GP, Tomic-Canic M,
            Kirsner RS, Russell DG and Podack ER.
  TITLE     Perforin-2 is essential for intracellular defense of parenchymal
            cells and phagocytes against pathogenic bacteria
  JOURNAL   Elife 4, e06508 (2015)
   PUBMED   26402460
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 4418)
  AUTHORS   Fields KA, McCormack R, de Armas LR and Podack ER.
  TITLE     Perforin-2 restricts growth of Chlamydia trachomatis in macrophages
  JOURNAL   Infect Immun 81 (8), 3045-3054 (2013)
   PUBMED   23753625
  REMARK    GeneRIF: Knockdown of perforin-2 in macrophages did not alter the
            invasion of host cells but did result in chlamydial growth that
            closely mirrored that detected in HeLa cells.
REFERENCE   9  (bases 1 to 4418)
  AUTHORS   McCormack R, de Armas LR, Shiratsuchi M, Ramos JE and Podack ER.
  TITLE     Inhibition of intracellular bacterial replication in fibroblasts is
            dependent on the perforin-like protein (perforin-2) encoded by
            macrophage-expressed gene 1
  JOURNAL   J Innate Immun 5 (2), 185-194 (2013)
   PUBMED   23257510
REFERENCE   10  (bases 1 to 4418)
  AUTHORS   Spilsbury K, O'Mara MA, Wu WM, Rowe PB, Symonds G and Takayama Y.
  TITLE     Isolation of a novel macrophage-specific gene by differential cDNA
            analysis
  JOURNAL   Blood 85 (6), 1620-1629 (1995)
   PUBMED   7888681
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: SRR1803616.267486.1, AK097881.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000361050.4/ ENSP00000354335.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA946058.1, BC104997.1, AP002358.3 and AW205154.1.
            On May 17, 2019 this sequence version replaced NM_001039396.1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..4418
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..4418
                     /gene="MPEG1"
                     /gene_synonym="IMD77; Mpg-1; MPG1; MPS1; P-2"
                     /note="macrophage expressed 1"
                     /db_xref="GeneID:219972"
                     /db_xref="HGNC:HGNC:29619"
                     /db_xref="MIM:610390"
     misc_feature    57..59
                     /gene="MPEG1"
                     /gene_synonym="IMD77; Mpg-1; MPG1; MPS1; P-2"
                     /note="upstream in-frame stop codon"
     CDS             63..2213
                     /gene="MPEG1"
                     /gene_synonym="IMD77; Mpg-1; MPG1; MPS1; P-2"
                     /note="macrophage expressed gene 1; macrophage gene 1
                     protein; macrophage-expressed gene 1 protein; perforin 2"
                     /codon_start=1
                     /product="macrophage-expressed gene 1 protein precursor"
                     /protein_id="NP_001034485.1"
                     /db_xref="CCDS:CCDS41650.1"
                     /db_xref="GeneID:219972"
                     /db_xref="HGNC:HGNC:29619"
                     /db_xref="MIM:610390"
                     /translation="MNNFRATILFWAAAAWAKSGKPSGEMDEVGVQKCKNALKLPVLEV
                     LPGGGWDNLRNVDMGRVMELTYSNCRTTEDGQYIIPDEIFTIPQKQSNLEMNSEILESW
                     ANYQSSTSYSINTELSLFSKVNGKFSTEFQRMKTLQVKDQAITTRVQVRNLVYTVKINP
                     TLELSSGFRKELLDISDRLENNQTRMATYLAELLVLNYGTHVTTSVDAGAALIQEDHLR
                     ASFLQDSQSSRSAVTASAGLAFQNTVNFKFEENYTSQNVLTKSYLSNRTNSRVQSIGGV
                     PFYPGITLQAWQQGITNHLVAIDRSGLPLHFFINPNMLPDLPGPLVKKVSKTVETAVKR
                     YYTFNTYPGCTDLNSPNFNFQANTDDGSCEGKMTNFSFGGVYQECTQLSGNRDVLLCQK
                     LEQKNPLTGDFSCPSGYSPVHLLSQIHEEGYNHLECHRKCTLLVFCKTVCEDVFQVAKA
                     EFRAFWCVASSQVPENSGLLFGGLFSSKSINPMTNAQSCPAGYFPLRLFENLKVCVSQD
                     YELGSRFAVPFGGFFSCTVGNPLVDPAISRDLGAPSLKKCPGGFSQHPALISDGCQVSY
                     CVKSGLFTGGSLPPARLPPFTRPPLMSQAATNTVIVTNSENARSWIKDSQTHQWRLGEP
                     IELRRAMNVIHGDGGGLSGGAAAGVTVGVTTILAVVITLAIYGTRKFKKKAYQAIEERQ
                     SLVPGTAATGDTTYQEQGQSPA"
     sig_peptide     63..113
                     /gene="MPEG1"
                     /gene_synonym="IMD77; Mpg-1; MPG1; MPS1; P-2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     114..2210
                     /gene="MPEG1"
                     /gene_synonym="IMD77; Mpg-1; MPG1; MPS1; P-2"
                     /product="Macrophage-expressed gene 1 protein.
                     /evidence=ECO:0000255. /id=PRO_0000324143"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M385.1)"
     misc_feature    615..617
                     /gene="MPEG1"
                     /gene_synonym="IMD77; Mpg-1; MPG1; MPS1; P-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q2M385.1); glycosylation site"
     misc_feature    825..827
                     /gene="MPEG1"
                     /gene_synonym="IMD77; Mpg-1; MPG1; MPS1; P-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q2M385.1); glycosylation site"
     misc_feature    867..869
                     /gene="MPEG1"
                     /gene_synonym="IMD77; Mpg-1; MPG1; MPS1; P-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q2M385.1); glycosylation site"
     misc_feature    1185..1187
                     /gene="MPEG1"
                     /gene_synonym="IMD77; Mpg-1; MPG1; MPS1; P-2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q2M385.1); glycosylation site"
     misc_feature    2028..2090
                     /gene="MPEG1"
                     /gene_synonym="IMD77; Mpg-1; MPG1; MPS1; P-2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2M385.1);
                     transmembrane region"
     regulatory      3836..3841
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPEG1"
                     /gene_synonym="IMD77; Mpg-1; MPG1; MPS1; P-2"
                     /note="hexamer: ATTAAA"
     polyA_site      3854
                     /gene="MPEG1"
                     /gene_synonym="IMD77; Mpg-1; MPG1; MPS1; P-2"
                     /note="major polyA site"
     regulatory      4081..4086
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPEG1"
                     /gene_synonym="IMD77; Mpg-1; MPG1; MPS1; P-2"
                     /note="hexamer: ATTAAA"
     polyA_site      4101
                     /gene="MPEG1"
                     /gene_synonym="IMD77; Mpg-1; MPG1; MPS1; P-2"
     regulatory      4395..4400
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPEG1"
                     /gene_synonym="IMD77; Mpg-1; MPG1; MPS1; P-2"
                     /note="hexamer: ATTAAA"
     polyA_site      4418
                     /gene="MPEG1"
                     /gene_synonym="IMD77; Mpg-1; MPG1; MPS1; P-2"
ORIGIN
        1 agtttgccca aagcttgctg gccgctgtgt agggctggtg agtggctggg gctgtctgag
       61 ccatgaacaa cttcagggcc accatcctct tctgggcagc ggcagcatgg gctaaatcag
      121 gcaagccttc gggagagatg gacgaagttg gagttcaaaa atgcaagaat gccttgaaac
      181 tacctgtcct ggaagtccta cctggagggg gctgggacaa tctgcggaat gtggacatgg
      241 gacgagttat ggaattgact tactccaact gcaggacaac agaggatgga cagtatatca
      301 tccctgatga aatcttcacc attccccaga aacagagcaa cctggagatg aactcagaaa
      361 tcctggaatc ctgggcaaat taccagagta gcacctccta ctccatcaac acagaactct
      421 ctcttttttc caaagtcaat ggcaagtttt ccactgagtt ccagaggatg aagaccctcc
      481 aagtgaagga ccaagctata actacccgag ttcaggtaag aaacctcgtc tacacagtca
      541 aaatcaaccc aactttagag ctaagctcag gttttaggaa ggaactcctt gacatctctg
      601 accgtctaga gaacaaccag acgaggatgg ccacctacct ggcagaactc ctggtgctca
      661 actatggcac ccacgtcacc accagtgtcg acgctggggc tgctcttatt caggaggacc
      721 acctcagggc ctccttcctc caagacagcc agagcagtcg tagtgccgtg accgcctctg
      781 ctggacttgc ctttcaaaac accgtgaact tcaaatttga ggaaaactat acctcgcaga
      841 atgtcctcac caagagctac ctctcaaacc gaaccaactc cagggtgcag agcattggag
      901 gggttccttt ttacccaggc atcaccctcc aggcctggca gcagggtatc accaaccacc
      961 tggtggccat cgaccgctct ggcctgccgc tgcatttctt catcaacccc aacatgctac
     1021 ctgacttgcc aggccccctg gtgaagaagg tgtcaaagac agtggaaact gctgtgaagc
     1081 gctattatac attcaacacc taccctggct gcacagatct caattctccc aacttcaatt
     1141 ttcaggccaa cacggatgat ggctcctgcg aggggaaaat gaccaacttc tctttcggtg
     1201 gggtttatca ggaatgcact cagctctcag ggaataggga tgtcctcctc tgccaaaagt
     1261 tggagcagaa gaatccactc actggtgatt tctcctgccc ctctggctac tccccggtgc
     1321 acctgttatc ccagatccac gaggagggtt acaaccacct ggagtgtcat cgaaagtgca
     1381 ctctcctcgt cttctgcaag accgtgtgtg aagatgtgtt ccaggtggca aaagctgaat
     1441 ttagggcttt ttggtgtgtg gccagcagcc aagtacctga aaactcagga ctgctttttg
     1501 ggggcctctt cagcagcaag agcataaacc ccatgacaaa tgcacagtca tgcccagccg
     1561 gctactttcc actgagactc tttgaaaacc tcaaggtatg tgtttctcag gactatgagt
     1621 tgggaagcag gtttgcggtc ccctttggcg ggttctttag ctgcacagtt gggaaccccc
     1681 tggtagatcc tgctatatcc agagatttag gggcaccgtc tctgaaaaag tgccccgggg
     1741 gcttcagcca gcacccagcc ctcatcagcg atggatgcca agtgtcctat tgcgtcaaat
     1801 ccgggctctt cacaggaggg tccctgcccc ctgccaggct cccacctttc acccggccac
     1861 ccctcatgag tcaggctgcc accaatactg tcatagtgac caattctgag aatgcgagat
     1921 cctggattaa agactcccag acccaccagt ggaggctggg agaaccgata gagctgcgga
     1981 gggccatgaa tgtcatccat ggggatggtg gtggtctgtc aggaggggct gcagctgggg
     2041 tcacagtggg ggtcaccacc attctggctg ttgttatcac cttggccatc tacggcaccc
     2101 ggaagttcaa gaagaaagca tatcaggcaa ttgaggaaag gcagagtttg gttccaggca
     2161 ctgcagcaac tggagacacc acttaccaag agcaggggca gagtccagct taaatctctc
     2221 cccgaaaatg gtttctctca tctccagtgt ggtcattgct gaccactctg ttttcctaag
     2281 cattgaaatg gcaagtgcaa ccaaaagtag gtatattcgt gacttcttgt ttaggtctct
     2341 gggccaggaa attcatactg ttacatggat aaggttggga ttggggagag ggaacagttg
     2401 ggactagaag caaaagtgat tctgggacta aaataggaag cagatgtcct ttcccaatgt
     2461 gtgttgctgt cttcacctga atgcatttgt gtaaaaatag cggagggaca atgtgaacat
     2521 ttgtatttgg aagctatgaa tttactctga agtttgcagt tgtttccaat ttgtgagctc
     2581 taagagtttc tgcctgtaag aactactctc cttttatttt gatttttaaa aacctgtctg
     2641 aatttcacac tcttagagcc tggaagagcc ctgaaaagac acaagtcttg cctggctact
     2701 gctttttaac tttgagggct ctatgttgac agactgttat ctcctctggg tgacctcaaa
     2761 catctgaaaa gaaagatgtt gcctgtgcca attccacttt ttccagctgc cccttgatga
     2821 acactccctt ataccagacc actcttggac ttctgactgg tgtcatcaag tcctcagaaa
     2881 atattttaag ttattttaag ttattaagga agggatgatt tggagacaag gagtaatgaa
     2941 agatgggtaa aaactggaaa agattctggt gctaagtact accccttcat cttccatgga
     3001 tggtcattac ctttcctgtc ctcctgttat atgaacacac acacacacac acacacacac
     3061 acacacacac acgcacacac ataccacatt tcaataagtc ttcattgttc tgggtcctta
     3121 cctttcctgt cctcctgtta tatgaacaca cacacacaca cacacacaca cacacacgca
     3181 caccacattt caatgtctgc atggttctgg gggtaacaaa ggcaagaagt taaagtaaga
     3241 ccacatttga gtattactta ctctgtagaa tcaaaacaga gtagttaaca ccaattatgc
     3301 aaactacttt tttttccagc agaaagggag ctgacatgat caaatccatg ttttcaaatg
     3361 aactgaaaaa ggcatccagc accacttata acacatttat ttcagttcca ggctgacagc
     3421 cctggggcat ctagcaggat gcataattgt catctggtga gagttgggac tttgctcaat
     3481 tttaatacca atctctcctg attgtaatta cctccactac tttcatgatc cccctacaat
     3541 atttttttaa atgatatatt tattcactga atcaaatgtc attaatgagt tatcttctgt
     3601 ggaggatgac tgttctcttt gttaatgttc acaatcaaga tcttgggctg agaagaggcc
     3661 cttcacccaa ggagtttgaa gtatcacagt gtgtgggaag gtgggaacca ggatacccat
     3721 tcatttccaa ccgagacaca gagaagtgag tcacagaatt tgagcccgct ctcttgactg
     3781 cccagccaga gacactgatt tctgtaacct cttcacttga tcctgcctct taagcattaa
     3841 aacattctcc taaacctctg agtgttttgt gggttctggg tgttttgtac attttagcca
     3901 agctaaccac ttgtctgcaa gtactgactt tcctatgaat tctttgaaga ttattgagtc
     3961 agaaaggaaa aatatagccc caaattccca ggcttttaat gcattacatt aactgcctat
     4021 tgaaatgaga agttcttcac aaacttgtat acccactaac aagattgcac ataaacatgc
     4081 attaaagtat atactaagaa accctctgtc caacggctca tgcatatgaa gtccgaacat
     4141 gggagtttgc caattgcatt catcaagtcg ttttgcggag tcagatccct gatggaagag
     4201 ctcacaggct ctgccttcca agtcctgggt tcctaactgg tgaccttagc ctggggtctg
     4261 tggggagacc aaccctggct tccaagaaaa ccacattcca tggactatca gaaatagaca
     4321 cagatttggg tgacaaagct ggctctgtat ttgcatttta tttttgtgtt cttgtcagtt
     4381 tgggaatgat taatattaaa catttatttg agaaacaa
//
LOCUS       NM_001039397            3224 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens TBC1 domain family member 28 (TBC1D28), mRNA.
ACCESSION   NM_001039397
VERSION     NM_001039397.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3224)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: BC112016.1 [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA2158188
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000405044.7/ ENSP00000385821.1
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC026271.6.
            On Jul 22, 2021 this sequence version replaced NM_001039397.2.
FEATURES             Location/Qualifiers
     source          1..3224
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..3224
                     /gene="TBC1D28"
                     /note="TBC1 domain family member 28"
                     /db_xref="GeneID:254272"
                     /db_xref="HGNC:HGNC:26858"
     misc_feature    179..181
                     /gene="TBC1D28"
                     /note="upstream in-frame stop codon"
     CDS             377..1009
                     /gene="TBC1D28"
                     /codon_start=1
                     /product="TBC1 domain family member 28"
                     /protein_id="NP_001034486.2"
                     /db_xref="CCDS:CCDS42273.1"
                     /db_xref="GeneID:254272"
                     /db_xref="HGNC:HGNC:26858"
                     /translation="MEMDEDPDNLPAQGQGNIIITKYEQGHRAGAAVDLGHEQVDVRKY
                     TNNLGIVHEMELPRVSALEVKQRRKESKRTNKWQKMLADWTKYRSTKKLSQRVCKVIPL
                     AVRGRALSLLLDIDKIKSQNPGKYKVMKEKGKRSSRIIHCIQLDVSHTLQKHMMFIQRF
                     GVKQQELCDILVAYSAYNPVSIPGQRYSWYLCPYSQAWVSLGGVATS"
     regulatory      3205..3210
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBC1D28"
                     /note="hexamer: AATAAA"
     polyA_site      3224
                     /gene="TBC1D28"
                     /note="major polyA site"
ORIGIN
        1 gtctctatgt ctggagctct tagagataag acatagaggt gtctggttct gagaaaagga
       61 agttttgcta agtgagagac acaactgact caactgactc aggaaaacaa agtcccctcc
      121 tgtattgaca gctgggaatt gtggtgtcca ccgtcctcga cctgcgacgg ggtctccatg
      181 agcacagagg ctgctctgga gtcaacagat catcttttcc ccaaaccaaa ctgcttggct
      241 ggcgttgttc ctgaaggggc ttcactggcc agaagacatc cagtccctga ctccacctgc
      301 ctccaggtgc ccagaacagc ccatcgtggg gacttcaccc tcagcaagtg gacgccgttt
      361 gtcctgccag ggcaggatgg agatggatga ggacccggat aacctgcctg cccaggggca
      421 aggcaatatc atcattacta agtatgagca gggacaccga gctggggcag cagtggactt
      481 ggggcatgag caggttgatg tcagaaaata caccaataac ctcgggattg tgcatgagat
      541 ggagctgccc cgcgtcagtg ccctggaggt gaagcaaaga cgcaaggaaa gtaaacgtac
      601 caacaagtgg caaaagatgc ttgcagactg gacaaaatat aggagcacca agaagctgtc
      661 tcaaagagta tgcaaagtca ttcccctggc ggtgcggggc cgggcgttgt cacttttgct
      721 agatattgac aaaatcaagt cccagaaccc aggcaaatat aaggtcatga aggagaaggg
      781 caagaggtcc tccagaatca tccactgcat ccagctagat gtcagccaca ccctgcagaa
      841 acacatgatg ttcatacaaa gattcggagt caagcagcag gaattatgtg acatcctcgt
      901 ggcctattct gcatataacc ctgtgagtat tcccgggcag cgatattcct ggtacctgtg
      961 cccatattca caggcatggg tgtctctcgg gggtgttgca acttcttgaa aattcagcgt
     1021 ttgtccacca ggacgtagta ggcaggactt cagctcgctg ctggcagaaa agggttgaag
     1081 cccagactcc tggtctcaca tggacccaat caccacatct cagatgaaga aatgaccttc
     1141 ccctcctggt gttgccccaa agcctaggag cttggcaggg tcccacacag gatggtcctt
     1201 gtaggagaca ggtttgacaa gttgctgagg tgcctgatgg gccaggcact tgtcatgaaa
     1261 tgagtttgca tcctggggga gcctcttctt cactggaaac ctggcaagga tccaatttcc
     1321 cctttgcctg atccccacag gagcatagca gatagggagg ggggtcaccc aggtggctct
     1381 tcctgcttgg cccccacttt ccagaccatt ccaggcaggg agagctgctg agctgactgc
     1441 atgagctgcc cacatggagg acccagccac cccttatgtt cggcaggcag cccttgggct
     1501 gttgcaggac cgtggccagt tcttggtatt gctcaagtcc cctgggcctt cagactggcg
     1561 ggtgacttca agggagcaac catcctgggc ctctcctggg acaaacactt gccttcaccc
     1621 actatcgatg tcttgctcag ccctcagagg agcgtggttg gcgtggatta cttcatgcct
     1681 tgattctgcc ttcccggaaa ccacggtggc agcaggcttg gatgtcacca agtcaccgtg
     1741 tttcatgcta tttctggagg ttctcgcctt tgtggcctcg gaaaggaagg cgatctggtg
     1801 ctttggggaa agccctcggg atgctcctcc agatggtctt cttcaggcct tttgctcagc
     1861 attggtctga tcagttctgc cagctctggg ccatgatctc ttggcactgg cgcggctttc
     1921 cttcaataat tccataaact ccagacttcg tgtcttttgc atggaaagca cgcggtgccc
     1981 atttcatcga caccgcaccc cggagtccaa acgtcagccc tgcgggtgtt gggtttgtta
     2041 gggacaattt cgggctcagg tgcagggggc gcttccccag cgcgggcgct tcctgggccc
     2101 catctgaggc cgtgggctcc tggcaggagg acctggagtt ttcagatccc cgggaaggat
     2161 gcatttcccc cactctcggg cacaagctgc cctttgctgg cgttgggcac ggatcatggc
     2221 ctcgcagaag cccgcgacag cgtggagcag gtggtgcccc cgcccgggac tcctggtggg
     2281 tgatggctcc gggaggcctt ggctgggaca gagtggggcc tccgggtcgg tcagcggccc
     2341 gagcccggct gcggctctcg gaggcttggg tttggaagac accgcctgcc atcccgcggc
     2401 gcctctcggg gtccgctccc ccggactggc cctgcccacc gcgcgcgagt agtagcgggc
     2461 ggccaggagt cagtggcagg cgcggccggt gggatgccgg gtaggaggct gcgctggagc
     2521 ccgctgggca gcgccgaccc ctaaggcagc cgggcgggtg agcgagcaga ggcgtgggcg
     2581 gctgaggggc tgaggggctg aggcggctga ggcggctgag gggctgagga ggctgagggg
     2641 ctgaggggct gaggcggctg aggggctgag gggctgaggg gcgggcagcc tggccggtcc
     2701 ctgccgcagg gtccaccgca cgtcacgtgg ccgaatccct cgggctgctt tctctctggg
     2761 ctgttttctt actgtgaacc tcgtgggctc ctgctcggtg tcctttctta ctctgtctct
     2821 gtttttgcat tctattggca agtattttat ttaggatatt ttactgatat aactgaggat
     2881 gaactgtgtt ttgcagcatt ttgttttatt acgcgttttc tcctagattt tggtatcatt
     2941 tttatgctga cttgattaaa cattttggaa actttcctgg aactgatagc ttttatatga
     3001 tctttttctt gaggtaataa aataatttac tttgaaatgt ctcagcctaa caacttttgt
     3061 gcttttgttg ttttgtgcag aggtgggaag actcctttgc atttttggta tcacttctgt
     3121 gttaatgatt ttgttgtttg tttcgcaaaa tcacttagtg atccgtgttt tccaacttaa
     3181 gagttaacat gtaccatttt gtgaaataaa aaaagtctcg tata
//
LOCUS       NM_001039464            4343 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens maestro heat like repeat family member 7 (MROH7),
            transcript variant 1, mRNA.
ACCESSION   NM_001039464
VERSION     NM_001039464.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4343)
  AUTHORS   Bohm D, Keller K, Pieter J, Boehm N, Wolters D, Siggelkow W,
            Lebrecht A, Schmidt M, Kolbl H, Pfeiffer N and Grus FH.
  TITLE     Comparison of tear protein levels in breast cancer patients and
            healthy controls using a de novo proteomic approach
  JOURNAL   Oncol Rep 28 (2), 429-438 (2012)
   PUBMED   22664934
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK302446.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000421030.7/ ENSP00000396622.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590093.10 and AL139244.21.
            On Nov 22, 2018 this sequence version replaced NM_001039464.3.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4343
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     gene            1..4343
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="maestro heat like repeat family member 7"
                     /db_xref="GeneID:374977"
                     /db_xref="HGNC:HGNC:24802"
     misc_feature    272..274
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="upstream in-frame stop codon"
     CDS             293..4264
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="isoform 1 is encoded by transcript variant 1; HEAT
                     repeat-containing protein 8; maestro heat-like
                     repeat-containing protein family member 7"
                     /codon_start=1
                     /product="maestro heat-like repeat-containing protein
                     family member 7 isoform 1"
                     /protein_id="NP_001034553.3"
                     /db_xref="CCDS:CCDS41342.2"
                     /db_xref="GeneID:374977"
                     /db_xref="HGNC:HGNC:24802"
                     /translation="MALSPGANLVFHEDPKMTPSPPSCGAPGLGSGTIPQPHPDMAQVP
                     MLNLLPSPGLALVPDLNDSLSPVSGEASGLVSENTPRPDDSRAIAPASLQITSSCSGEA
                     LDLDSKDVSRPDSQGRLCPASNPILSPSSTEAPRLSSGNHPQSNSEDAFKCLSSKIFKL
                     GQRNSNPSRHELNPFIRHHSREGLVLGHCISRPSSKALLIPTSNSSLDLDSNPLLNMGS
                     RNTSKLNLNVAPDSHGTLIPDTNETITLASHNISESVSKGAFSTTWSTSSKETMNVASS
                     GHSRSDLSVTITQASYVTLIPGSSYGISLHSSTHEPNSTISPPSCMTLILGSNETLSLD
                     SSLLFSDTSTLTLSSQQDDAKDNSIHTVPLEENLESWSEMASIKVGQFPLGFPISNPAG
                     KDAVTLQGIPEGAFDEVTSCLVKVPEKTEGGNNMALVENVTTLQKSQDLLEAEGEKKTM
                     IKKIMRQIQEEPLDSLSSSVRKQAMEILTQLSHTQPTLGMRERSELVNVCVHSVFSLPS
                     VQAMQEKDEAKAETIQALYHQTLEALQTLLKALFIEDPTPAGLKSILEALGPWMNSGKA
                     HERARAVNTNVSVLNHMLLTLPFFMPLGFPALGLLLGRLILHIGDPDEEIGCEALDGII
                     ILYTILELQKRARDKEETNKKELYESNKHFLGPYNPVSPCQNILRVIEEFGDFLGPQQI
                     KDLLLAALEGLKGSSEAPGKDSREMMQLASEVMLSSVLEWYRHRALEVIPEIMQGIYMQ
                     LSHIQEPRARQVALLPVSLLASSFMTEVVVALLMCPLPLNSNGAEMWRQLILCKPSCDV
                     RDLLDLLLGSLKEKPVTKEGRASIVPLAAASGLCELLSVNSCMGRVRRIYPQLLLALLI
                     QVHYHIGLNLPGCVAPPKDTKKGAQPSPFVPVRWVVKVVKTLLLRMGCSYETTFLEDQG
                     GWELMEQVESHHRGVALLARAMVQYSCQELCRILYLLIPLLERGDEKHRITATAFFVEL
                     LQMEQVRRIPEEYSLGRMAEGLSHHDPIMKVLSIRGLVILARRSEKTAKVKALLPSMVK
                     GLKNMDGMLVVEAVHNLKAVFKGRDQKLMDSAVYVEMLQILLPHFSDAREVVRSSCINL
                     YGKVVQKLRAPRTQAMEEQLVSTLVPLLLTMQEGNSKVSQKCVKTLLRCSYFMAWELPK
                     RAYSRKPWDNQQQTVAKICKCLVNTHRDSAFIFLSQSLEYAKNSRASLRKCSVMFIGSL
                     VPCMESIMTEDRLNEVKAALDNLRHDPEASVCIYAAQVQDHILASCWQNSWLPHGNSWV
                     CYSATTHRWSPSCENLPTSHQRRSWIMQALGSWKMSLKK"
     misc_feature    293..418
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CQ1.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    488..553
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CQ1.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    608..742
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CQ1.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1244..1246
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q68CQ1.4); glycosylation site"
     misc_feature    1604..1606
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q68CQ1.4); glycosylation site"
     misc_feature    2048..2050
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q68CQ1.4); glycosylation site"
     misc_feature    2069..2131
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CQ1.4);
                     transmembrane region"
     misc_feature    2591..2653
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CQ1.4);
                     transmembrane region"
     misc_feature    3161..3277
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CQ1.4);
                     Region: HEAT 1"
     misc_feature    3398..3514
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CQ1.4);
                     Region: HEAT 2"
     misc_feature    3527..3643
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CQ1.4);
                     Region: HEAT 3"
     misc_feature    3665..3778
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68CQ1.4);
                     Region: HEAT 4"
     regulatory      4318..4323
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="hexamer: TATAAA"
     polyA_site      4343
                     /gene="MROH7"
                     /gene_synonym="C1orf175; HEATR8"
                     /note="major polyA site"
ORIGIN
        1 gaggggcagc tctgggaaag tcctaggggt gggggcagtc tccacagcct cccacaaggg
       61 agttaccacc ttcccgcact tctgggtaca agtctcctgc tctggctgta ttccacagtt
      121 agaacttcat atctttggct tagagctgga ttttctgtta ccatgtggat gctccaggtg
      181 aaggggcccg ctcctgctta aaaacaccat gcatgcagac tgctgctggg aatgtgacag
      241 ttggctgttg gagagaagcg ggcactggca ttgagagacc tccagactgg acatggccct
      301 gagtccaggg gctaacctgg tcttccatga agacccaaag atgacaccaa gtcccccctc
      361 ctgtggggcc ccgggattag ggtctggtac catccctcag ccccacccag acatggctca
      421 ggtgcctatg ttgaatctgc tcccaagtcc tggcttggct ctcgttccag atcttaatga
      481 ttctttgagt ccagtctcag gggaggcctc aggcctggtg tctgaaaaca cccccagacc
      541 tgatgacagc agagctatcg ctccagcctc cctccagatc accagttctt gttctggtga
      601 agccctggac ctggattcca aggatgtctc aaggcctgac tcacaggggc gcctctgtcc
      661 agcctcaaac cccattctga gccctagctc tactgaggcc cctcgtctga gctctgggaa
      721 ccaccctcag tcaaattctg aagatgcctt caagtgcctc tcaagtaaga ttttcaagtt
      781 gggtcagaga aactccaacc cttctaggca tgaattaaac ccatttataa ggcaccattc
      841 cagagaaggt ctggttctgg gccactgcat ctctaggcca agctcaaaag cactccttat
      901 tccaacctca aactcttctc tggaccttga ctccaatcca ttgctcaaca tgggctcaag
      961 aaacacctcc aagctgaacc tgaatgtagc tccagattct catgggaccc taatcccaga
     1021 cacaaatgag accatcactt tggcttcaca taatatctct gagtctgttt caaaaggagc
     1081 ctttagtacc acctggagca caagttcaaa ggaaaccatg aatgtggctt ccagcggcca
     1141 ctccagatct gatttgagcg tgaccatcac tcaagcctcg tatgtgaccc tgattcctgg
     1201 ctccagctat ggtatcagcc tgcactccag cacccatgag cccaactcca ccatctctcc
     1261 accctcatgc atgactctaa tcctgggttc caatgagact ctgagcctgg actccagcct
     1321 cctgttcagc gacacctcca ccttgacgct gagcagtcag caggatgatg ccaaggacaa
     1381 cagcatccac actgtgcccc tggaggagaa tctggagagt tggagtgaga tggccagcat
     1441 taaggtgggc cagttcccgc tgggattccc catctccaac cccgcaggca aggacgccgt
     1501 gaccttgcaa ggcatccctg agggagcctt tgatgaagtg acctcatgcc tggtgaaggt
     1561 gccagagaag acagaaggtg gcaacaacat ggctctggtt gagaatgtca ccacccttca
     1621 gaagagccag gatctgctgg aggcagaagg agaaaagaag accatgataa agaagattat
     1681 gaggcagatc caggaggagc cactggattc tctctcaagc tccgtccgca agcaggccat
     1741 ggagatcctg acccagctga gccacaccca gcccaccctg ggcatgcggg agaggtcgga
     1801 gctggtgaac gtgtgtgtgc acagcgtgtt ctccctgccc tccgtgcagg cgatgcagga
     1861 gaaggacgag gccaaggctg agaccatcca ggctctttac catcagaccc tggaggccct
     1921 gcagacactg ctcaaagccc tctttatcga ggaccccact cctgctgggc tgaagagcat
     1981 cttggaggcc ctggggcctt ggatgaactc tgggaaggcc catgagcgag cacgggctgt
     2041 gaacaccaat gtctctgtgt tgaaccacat gcttctaact ctgcctttct ttatgccctt
     2101 ggggttcccg gcgctggggc ttctgctggg gagactcatc cttcacattg gggatcctga
     2161 tgaggagatt ggctgtgagg ctctggacgg catcatcatc ctctacacta ttctggagct
     2221 ccaaaaacga gccagagata aggaagagac caacaaaaag gagctatatg agagcaacaa
     2281 gcatttcctg gggccctaca accctgtgag cccgtgccag aacattctgc gggtgatcga
     2341 ggaatttgga gacttcctgg ggccccagca gataaaggac ctgctgctgg ccgccctgga
     2401 agggctgaaa ggcagctcag aggctccagg gaaggactcc agggagatga tgcagctggc
     2461 ctcggaggtc atgctcagct cggtgctgga gtggtaccgc cacagggcgc tggaggtgat
     2521 cccagaaatc atgcaaggca tctacatgca gctgagccac atccaggagc ctcgggcccg
     2581 ccaggtggcc ctgctgcccg tctccctcct ggctagctcc ttcatgaccg aggttgtggt
     2641 ggccctgctc atgtgccccc tcccactgaa cagcaatgga gcagagatgt ggaggcagct
     2701 gatactgtgt aagcccagct gtgatgtccg agacctcctg gatctgctcc tgggcagcct
     2761 gaaggagaag cccgtcacca aggagggccg ggcttccatc gtgcccctgg cggcagccag
     2821 cggcctgtgc gagctcctgt ccgtcaacag ctgcatgggc cgtgtgaggc gcatctaccc
     2881 tcagctgctc ctggccctgc tcattcaggt ccattaccac atcggcctca acctgcctgg
     2941 ctgcgtggct cctcccaagg acaccaagaa gggtgcacag ccctctccct tcgtacctgt
     3001 gcgctgggtg gtgaaagtgg tgaaaaccct gctactgagg atgggctgct cttatgagac
     3061 cacgtttctg gaggaccagg gtggctggga gctcatggag caggtggaga gccaccaccg
     3121 cggagtggcc ttgctggcaa gggccatggt gcagtactcc tgccaggagc tgtgccgcat
     3181 cctctacctg ctcatcccgc tcctggagcg aggcgacgag aagcacagga tcacggccac
     3241 cgccttcttc gtggagctcc tccagatgga gcaggtgcgc cggatccccg aggaatactc
     3301 tctggggcgg atggcagaag gcctgagcca ccacgacccc atcatgaagg tgctgtccat
     3361 tcgaggcctg gtcatcctgg cccgcaggtc tgagaagacc gccaaggtga aggccctcct
     3421 gccctccatg gtgaagggcc tgaagaacat ggatgggatg ctggtggtgg aagcggtcca
     3481 caacctcaag gctgtcttca aggggcggga ccagaagctg atggacagtg cggtctatgt
     3541 ggagatgctg cagatcctgc tgccgcactt cagcgacgca cgagaggtcg tgcgctcctc
     3601 ctgcatcaac ctgtatggga aggtggtcca gaagcttcgg gcaccacgca ctcaggccat
     3661 ggaggagcag ctggtcagca ccttggtgcc cctactgctg accatgcagg agggcaactc
     3721 caaggtaagc cagaagtgtg tgaagaccct gttacgctgt tcttacttca tggcttggga
     3781 gttgccaaaa agagcttata gccggaagcc ctgggacaac caacagcaga cagtggccaa
     3841 aatttgcaag tgccttgtga acacccaccg agacagcgcc ttcatattcc tcagccagag
     3901 cctggagtat gccaagaact cacgggcctc cctccggaag tgctcagtca tgttcatagg
     3961 gtccctggtc ccctgcatgg agagcataat gacagaagat cgtctgaatg aagtgaaagc
     4021 tgctctggat aacttgagac atgacccaga agcatcagtg tgcatctacg cagcccaggt
     4081 ccaggaccac atcctggcca gctgctggca gaactcctgg ctgccgcacg ggaactcatg
     4141 ggtgtgttac tcagccacca cccaccgctg gagccccagc tgtgagaacc tgcccacttc
     4201 ccaccagcgg cgctcctgga tcatgcaggc actgggctcc tggaagatgt ccttgaagaa
     4261 gtgacgtccc tgagccccaa accctcctca gggtggttga gttccagcca tgctccctat
     4321 aaatgtcatg tggcttacct ctc
//
LOCUS       NM_001039469            4547 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens microtubule affinity regulating kinase 2 (MARK2),
            transcript variant 4, mRNA.
ACCESSION   NM_001039469
VERSION     NM_001039469.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4547)
  AUTHORS   Natarajan SR, Ponnusamy L and Manoharan R.
  TITLE     MARK2/4 promotes Warburg effect and cell growth in non-small cell
            lung carcinoma through the AMPKalpha1/mTOR/HIF-1alpha signaling
            pathway
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1869 (7), 119242 (2022)
   PUBMED   35192892
  REMARK    GeneRIF: MARK2/4 promotes Warburg effect and cell growth in
            non-small cell lung carcinoma through the AMPKalpha1/mTOR/HIF-1alpha
            signaling pathway.
REFERENCE   2  (bases 1 to 4547)
  AUTHORS   Tabassum Z, Tseng JH, Isemann C, Tian X, Chen Y, Herring LE and
            Cohen TJ.
  TITLE     Identification of a reciprocal negative feedback loop between
            tau-modifying proteins MARK2 kinase and CBP acetyltransferase
  JOURNAL   J Biol Chem 298 (6), 101977 (2022)
   PUBMED   35469920
  REMARK    GeneRIF: Identification of a reciprocal negative feedback loop
            between tau-modifying proteins MARK2 kinase and CBP
            acetyltransferase.
REFERENCE   3  (bases 1 to 4547)
  AUTHORS   Ponnusamy L, Natarajan SR and Manoharan R.
  TITLE     MARK2 potentiate aerobic glycolysis-mediated cell growth in breast
            cancer through regulating mTOR/HIF-1alpha and p53 pathways
  JOURNAL   J Cell Biochem 123 (4), 759-771 (2022)
   PUBMED   35048405
  REMARK    GeneRIF: MARK2 potentiate aerobic glycolysis-mediated cell growth in
            breast cancer through regulating mTOR/HIF-1alpha and p53 pathways.
REFERENCE   4  (bases 1 to 4547)
  AUTHORS   Hou S, Zhang X and Yang J.
  TITLE     Long non-coding RNA ABHD11-AS1 facilitates the progression of
            cervical cancer by competitively binding to miR-330-5p and
            upregulating MARK2
  JOURNAL   Exp Cell Res 410 (1), 112929 (2022)
   PUBMED   34793775
  REMARK    GeneRIF: Long non-coding RNA ABHD11-AS1 facilitates the progression
            of cervical cancer by competitively binding to miR-330-5p and
            upregulating MARK2.
REFERENCE   5  (bases 1 to 4547)
  AUTHORS   Lu YN, Kavianpour S, Zhang T, Zhang X, Nguyen D, Thombre R, He L and
            Wang J.
  TITLE     MARK2 phosphorylates eIF2alpha in response to proteotoxic stress
  JOURNAL   PLoS Biol 19 (3), e3001096 (2021)
   PUBMED   33705388
  REMARK    GeneRIF: MARK2 phosphorylates eIF2alpha in response to proteotoxic
            stress. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4547)
  AUTHORS   Espinosa L and Navarro E.
  TITLE     Human serine/threonine protein kinase EMK1: genomic structure and
            cDNA cloning of isoforms produced by alternative splicing
  JOURNAL   Cytogenet Cell Genet 81 (3-4), 278-282 (1998)
   PUBMED   9730619
REFERENCE   7  (bases 1 to 4547)
  AUTHORS   Drewes G, Ebneth A, Preuss U, Mandelkow EM and Mandelkow E.
  TITLE     MARK, a novel family of protein kinases that phosphorylate
            microtubule-associated proteins and trigger microtubule disruption
  JOURNAL   Cell 89 (2), 297-308 (1997)
   PUBMED   9108484
REFERENCE   8  (bases 1 to 4547)
  AUTHORS   Courseaux A, Grosgeorge J, Gaudray P, Pannett AA, Forbes SA,
            Williamson C, Bassett D, Thakker RV, Teh BT, Farnebo F, Shepherd J,
            Skogseid B, Larsson C, Giraud S, Zhang CX, Salandre J and Calender
            A.
  TITLE     Definition of the minimal MEN1 candidate area based on a 5-Mb
            integrated map of proximal 11q13. The European Consortium on Men1,
            (GENEM 1; Groupe d'Etude des Neoplasies Endocriniennes Multiples de
            type 1)
  JOURNAL   Genomics 37 (3), 354-365 (1996)
   PUBMED   8938448
REFERENCE   9  (bases 1 to 4547)
  AUTHORS   Courseaux A, Fernandes M, Grosgeorge J, Inglis J, Raynaud SD and
            Gaudray P.
  TITLE     Human EMK1 is located on 11q12-q13, close to COX8 and FTH1
  JOURNAL   Mamm Genome 6 (4), 311-312 (1995)
   PUBMED   7613050
REFERENCE   10  (bases 1 to 4547)
  AUTHORS   Schultz SJ and Nigg EA.
  TITLE     Identification of 21 novel human protein kinases, including 3
            members of a family related to the cell cycle regulator nimA of
            Aspergillus nidulans
  JOURNAL   Cell Growth Differ 4 (10), 821-830 (1993)
   PUBMED   8274451
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.1256064.1,
            SRR14038192.1146772.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000402010.8/ ENSP00000385751.2
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB188493.1, AK225766.1,
            BC008771.2, AP003780.3 and BM719402.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 13, 2020 this sequence version replaced NM_001039469.2.
            Summary: This gene encodes a member of the Par-1 family of
            serine/threonine protein kinases. The protein is an important
            regulator of cell polarity in epithelial and neuronal cells, and
            also controls the stability of microtubules through phosphorylation
            and inactivation of several microtubule-associating proteins. The
            protein localizes to cell membranes. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2009].
            Transcript Variant: This variant (4) represents the longest
            transcript and encodes the longest isoform (d).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4547
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..4547
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="microtubule affinity regulating kinase 2"
                     /db_xref="GeneID:2011"
                     /db_xref="HGNC:HGNC:3332"
                     /db_xref="MIM:600526"
     misc_feature    248..250
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="upstream in-frame stop codon"
     CDS             398..2764
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /EC_number="2.7.11.1"
                     /EC_number="2.7.11.26"
                     /note="isoform d is encoded by transcript variant 4;
                     Ser/Thr protein kinase PAR-1B; serine/threonine protein
                     kinase EMK; MAP/microtubule affinity-regulating kinase 2;
                     serine/threonine-protein kinase MARK2; ELKL motif kinase 1;
                     PAR1 homolog b; testicular tissue protein Li 117"
                     /codon_start=1
                     /product="serine/threonine-protein kinase MARK2 isoform d"
                     /protein_id="NP_001034558.2"
                     /db_xref="CCDS:CCDS53649.1"
                     /db_xref="GeneID:2011"
                     /db_xref="HGNC:HGNC:3332"
                     /db_xref="MIM:600526"
                     /translation="MSSARTPLPTLNERDTEQPTLGHLDSKPSSKSNMIRGRNSATSAD
                     EQPHIGNYRLLKTIGKGNFAKVKLARHILTGKEVAVKIIDKTQLNSSSLQKLFREVRIM
                     KVLNHPNIVKLFEVIETEKTLYLVMEYASGGEVFDYLVAHGRMKEKEARAKFRQIVSAV
                     QYCHQKFIVHRDLKAENLLLDADMNIKIADFGFSNEFTFGNKLDTFCGSPPYAAPELFQ
                     GKKYDGPEVDVWSLGVILYTLVSGSLPFDGQNLKELRERVLRGKYRIPFYMSTDCENLL
                     KKFLILNPSKRGTLEQIMKDRWMNVGHEDDELKPYVEPLPDYKDPRRTELMVSMGYTRE
                     EIQDSLVGQRYNEVMATYLLLGYKSSELEGDTITLKPRPSADLTNSSAPSPSHKVQRSV
                     SANPKQRRFSDQAAGPAIPTSNSYSKKTQSNNAENKRPEEDRESGRKASSTAKVPASPL
                     PGLERKKTTPTPSTNSVLSTSTNRSRNSPLLERASLGQASIQNGKDSLTMPGSRASTAS
                     ASAAVSAARPRQHQKSMSASVHPNKASGLPPTESNCEVPRPSTAPQRVPVASPSAHNIS
                     SSGGAPDRTNFPRGVSSRSTFHAGQLRQVRDQQNLPYGVTPASPSGHSQGRRGASGSIF
                     SKFTSKFVRRNLSFRFARRNLNEPESKDRVETLRPHVVGSGGNDKEKEEFREAKPRSLR
                     FTWSMKTTSSMEPNEMMREIRKVLDANSCQSELHEKYMLLCMHGTPGHEDFVQWEMEVC
                     KLPRLSLNGVRFKRISGTSMAFKNIASKIANELKL"
     misc_feature    398..535
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7KZI7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    515..517
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    569..571
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000250|UniProtKB:O08679; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    668..670
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphoserine, by CaMK1.
                     /evidence=ECO:0000250|UniProtKB:O08679; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    671..673
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphoserine, by CaMK1.
                     /evidence=ECO:0000250|UniProtKB:O08679; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    674..676
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphoserine, by CaMK1.
                     /evidence=ECO:0000250|UniProtKB:O08679; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    1019..1021
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphothreonine, by LKB1 and TAOK1.
                     /evidence=ECO:0000269|PubMed:14976552,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    1031..1033
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphoserine, by GSK3-beta.
                     /evidence=ECO:0000250|UniProtKB:O08679; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    1217..1219
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphoserine, by autocatalysis.
                     /evidence=ECO:0000250|UniProtKB:O08679; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    1220..1222
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000250|UniProtKB:O08679; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    1277..1279
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphothreonine, by CaMK1.
                     /evidence=ECO:0000250|UniProtKB:O08679; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    1514..2293
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7KZI7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1523..1525
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    1622..1624
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19369195; Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    1763..1765
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18088087, ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    1796..1798
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    1853..1855
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    1874..1876
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    2102..2104
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    2108..2110
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    2171..2173
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    2183..2185
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphothreonine, by PKC/PRKCZ.
                     /evidence=ECO:0000269|PubMed:15084291,
                     ECO:0000269|PubMed:15324659, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q7KZI7.2);
                     phosphorylation site"
     misc_feature    2252..2254
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     misc_feature    2561..2563
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q7KZI7.2); phosphorylation site"
     regulatory      4523..4528
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="hexamer: AATAAA"
     polyA_site      4547
                     /gene="MARK2"
                     /gene_synonym="EMK-1; EMK1; PAR-1; Par-1b; Par1b"
                     /note="major polyA site"
ORIGIN
        1 ggcggtggtg gcggccatgt tgggagcagc aggtccggcg gcggctgcct gtgtgccggg
       61 cgcggagcag tgccgctgag ggcaggggag gagcgaggca ggcggccggc tgcggcggca
      121 gagagtaggc ggagcggcgc ggcccggccg aaaggcggca cagcccagcc gggggtcggg
      181 ggggtgcggt ccggagccgc tcggagccgg cgcggcctag cccgagcggc gcatccccgg
      241 gctggcgtga gcggctgccc ggcctccccg cacccccggc cggggcccat gcggcgggtg
      301 ctcctgctgt gagaagcccc gcccggccgg gctccgcgcc ttcccttccc tcccttcctc
      361 caagcttctc ggttccctcc cccgagatac cggcgccatg tccagcgctc ggacccccct
      421 acccacgctg aacgagaggg acacggagca gcccaccttg ggacaccttg actccaagcc
      481 cagcagtaag tccaacatga ttcggggccg caactcagcc acctctgctg atgagcagcc
      541 ccacattgga aactaccggc tcctcaagac cattggcaag ggtaattttg ccaaggtgaa
      601 gttggcccga cacatcctga ctgggaaaga ggtagctgtg aagatcattg acaagactca
      661 actgaactcc tccagcctcc agaaactatt ccgcgaagta agaataatga aggttttgaa
      721 tcatcccaac atagttaaat tatttgaagt gattgagact gagaaaacgc tctaccttgt
      781 catggagtac gctagtggcg gagaggtatt tgattaccta gtggctcatg gcaggatgaa
      841 agaaaaagag gctcgagcca aattccgcca gatagtgtct gctgtgcagt actgtcacca
      901 gaagtttatt gtccatagag acttaaaggc agaaaacctg ctcttggatg ctgatatgaa
      961 catcaagatt gcagactttg gcttcagcaa tgaattcacc tttgggaaca agctggacac
     1021 cttctgtggc agtccccctt atgctgcccc agaactcttc cagggcaaaa aatatgatgg
     1081 acccgaggtg gatgtgtgga gcctaggagt tatcctctat acactggtca gcggatccct
     1141 gccttttgat ggacagaacc tcaaggagct gcgggaacgg gtactgaggg gaaaataccg
     1201 tattccattc tacatgtcca cggactgtga aaacctgctt aagaaatttc tcattcttaa
     1261 tcccagcaag agaggcactt tagagcaaat catgaaagat cgatggatga atgtgggtca
     1321 cgaagatgat gaactaaagc cttacgtgga gccactccct gactacaagg acccccggcg
     1381 gacagagctg atggtgtcca tgggttatac acgggaagag atccaggact cgctggtggg
     1441 ccagagatac aacgaggtga tggccaccta tctgctcctg ggctacaaga gctccgagct
     1501 ggaaggcgac accatcaccc tgaaaccccg gccttcagct gatctgacca atagcagcgc
     1561 cccatcccca tcccacaagg tacagcgcag cgtgtcggcc aatcccaagc agcggcgctt
     1621 cagcgaccag gcagctggtc ctgccattcc cacctctaat tcttactcta agaagactca
     1681 gagtaacaac gcagaaaata agcggcctga ggaggaccgg gagtcagggc ggaaagccag
     1741 cagcacagcc aaggtgcctg ccagccccct gcccggtctg gagaggaaga agaccacccc
     1801 aaccccctcc acgaacagcg tcctctccac cagcacaaat cgaagcagga attccccact
     1861 tttggagcgg gccagcctcg gccaggcctc catccagaat ggcaaagaca gcctaaccat
     1921 gccagggtcc cgggcctcca cggcttctgc ttctgccgca gtctctgcgg cccggccccg
     1981 ccagcaccag aaatccatgt cggcctccgt gcaccccaac aaggcctctg ggctgccccc
     2041 cacggagagt aactgtgagg tgccgcggcc cagcacagcc ccccagcgtg tccctgttgc
     2101 ctccccatcc gcccacaaca tcagcagcag tggtggagcc ccagaccgaa ctaacttccc
     2161 ccggggtgtg tccagccgaa gcaccttcca tgctgggcag ctccgacagg tgcgggacca
     2221 gcagaatttg ccctacggtg tgaccccagc ctctccctct ggccacagcc agggccggcg
     2281 gggggcctct gggagcatct tcagcaagtt cacctccaag tttgtacgca gaaatctgtc
     2341 tttcaggttt gccagaagga acctgaatga acctgaaagc aaagaccgag tggagacgct
     2401 cagacctcac gtggtgggca gtggcggcaa cgacaaagaa aaggaagaat ttcgggaggc
     2461 caagccccgc tccctccgct tcacgtggag tatgaagacc acgagctcca tggagcccaa
     2521 cgagatgatg cgggagatcc gcaaggtgct ggacgcgaac agctgccaga gcgagctgca
     2581 tgagaagtac atgctgctgt gcatgcacgg cacgccgggc cacgaggact tcgtgcagtg
     2641 ggagatggag gtgtgcaaac tgccgcggct ctctctcaac ggggttcgat ttaagcggat
     2701 atcgggcacc tccatggcct tcaaaaacat tgcctccaaa atagccaacg agctgaagct
     2761 ttaacaggct gccaggagcg ggggcggcgg gggcgggcca gctggacggg ctgccggccg
     2821 ctgcgccgcc ccacctgggc gagactgcag cgatggattg gtgtgtctcc cctgctggca
     2881 cttctcccct ccctggccct tctcagtttt ctcttacatg tttgtggggg gtgggagatt
     2941 gttctccagc accccacatt cacccctgcc cagagattcc cccttctcct ctcccctact
     3001 ggaggcaaag gaaggggagg gtggatgggg gggcagggct ccccctcggt actgcggttg
     3061 cacagagtat ttcgcctaaa ccaagaaatt ttttattacc aaaaagaaaa aagaaaaaaa
     3121 aaatcccagc ggccaccttt cctccctgcc ccattgggac agtcgagact ggatctgtgg
     3181 ggtttcccgg gagggtggct cagggctgga acactctcag gcaagagtgg tggagctccc
     3241 gtcaggccct ccgccaggcc cactgtgggc ttctcccctc tcctccctcc ttcccctcca
     3301 agcaaaccac cagaggtggc cttcccctga cctcaggccc ctgggctgga ggcctgggcg
     3361 gtggggcagg gggcgggggt gctgcgcagc cctgcagtgg gtggggctgg gggctgctcc
     3421 ggggctgctg aggctggagg gccggcacaa ggctccgcct ccctccacac tgtaccctct
     3481 gcccctcctc cccagagctg ggcatttcct tccacaagct gctgtgggga cgtgtgttcc
     3541 ctcaaagtct gtgccatctt ctcccacccc tcccgggtag aaggaggggc tgaccccagg
     3601 gctgggagag gggaggggac tggagggcag actggcttct cggtccccag ggggccgctt
     3661 gggctgttgg tctccagagc agggccactg ggcactctgt gatgggggag cctttgtctg
     3721 aaagcacagc cccctcgccc ttcctctccc catggcttcc ccttcattgg cattaatctg
     3781 ggcaccagct ctctccatag cagtgacttc cctcaccact ctcatctctc agccttgcct
     3841 tttcttcctg acactgtcgc cccctcctct caggagacac tgccgagggc cacctggcag
     3901 aaggctgagt taggcagcag ggccgggagc gtctgccctc cacagggtgg gggacagata
     3961 ggctaagcga ctcccagctt gctaccctca gtggccagtg tgggcgtggg cggtttgggg
     4021 cgcttggctg gtggtggcca ctgcatccct taatttattt ctctgctgtt tctgttcttg
     4081 agaaattggg ggtgggagtc ctacacagag gctgccccta ccctcacctg agttgtacat
     4141 ttttttgtga tgggttttat tttttattat tttattttat tttttttttt tttgatttat
     4201 gatgactcca cccctcttca tcacccccgc tcccaggcca ggctcagcga ttaagccgag
     4261 cccttgcgtc ctaggaaggg gccttgccaa cctcagccct cctgccccac actcctactg
     4321 cggctcagac caagggctcc ccctccctcc cttcccccct cctgccctat ggaacagccc
     4381 gggtgctctg agggggctgg gagggcatgg cttggctccc aaagggggta ggggcccggg
     4441 gcacccaggc aaggtggccc ctccccgtct agccccctcc tccccaaccc tgcacttagt
     4501 ttctcctctg gatcaaacac gtaataaaga gaatgtttgg aatctga
//
LOCUS       NM_001039479            5417 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens apoptosis resistant E3 ubiquitin protein ligase 1
            (AREL1), transcript variant 1, mRNA.
ACCESSION   NM_001039479
VERSION     NM_001039479.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5417)
  AUTHORS   Rydbirk R, Folke J, Busato F, Roche E, Chauhan AS, Lokkegaard A,
            Hejl AM, Bode M, Blaabjerg M, Moller M, Danielsen EH, Brudek T,
            Pakkenberg B, Tost J and Aznar S.
  TITLE     Epigenetic modulation of AREL1 and increased HLA expression in
            brains of multiple system atrophy patients
  JOURNAL   Acta Neuropathol Commun 8 (1), 29 (2020)
   PUBMED   32151281
  REMARK    GeneRIF: Epigenetic modulation of AREL1 and increased HLA expression
            in brains of multiple system atrophy patients. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 5417)
  AUTHORS   Singh S, Ng J, Nayak D and Sivaraman J.
  TITLE     Structural insights into a HECT-type E3 ligase AREL1 and its
            ubiquitination activities in vitro
  JOURNAL   J Biol Chem 294 (52), 19934-19949 (2019)
   PUBMED   31732561
  REMARK    GeneRIF: The AREL1 HECT domain assembled Lys(33)-, Lys(48)-, and
            Lys(63)-linked polyubiquitin chains. E701A substitution in the AREL1
            HECT domain substantially increased its autopolyubiquitination and
            SMAC ubiquitination activity, whereas deletion of the last three
            amino acids at the C terminus completely abrogated AREL1
            autoubiquitination and reduced SMAC ubiquitination.
REFERENCE   3  (bases 1 to 5417)
  AUTHORS   Lear TB, McKelvey AC, Evankovich JW, Rajbhandari S, Coon TA, Dunn
            SR, Londino JD, McVerry BJ, Zhang Y, Valenzi E, Burton CL, Gordon R,
            Gingras S, Lockwood KC, Jurczak MJ, Lafyatis R, Shlomchik MJ, Liu Y
            and Chen BB.
  TITLE     KIAA0317 regulates pulmonary inflammation through SOCS2 degradation
  JOURNAL   JCI Insight 4 (19), 129110 (2019)
   PUBMED   31578312
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5417)
  AUTHORS   Lear T, McKelvey AC, Rajbhandari S, Dunn SR, Coon TA, Connelly W,
            Zhao JY, Kass DJ, Zhang Y, Liu Y and Chen BB.
  TITLE     Ubiquitin E3 ligase FIEL1 regulates fibrotic lung injury through
            SUMO-E3 ligase PIAS4
  JOURNAL   J Exp Med 213 (6), 1029-1046 (2016)
   PUBMED   27162139
  REMARK    GeneRIF: new protein isoform encoded by KIAA0317, termed
            fibrosis-inducing E3 ligase 1 (FIEL1), which potently stimulates the
            TGFbeta signaling pathway through the site-specific ubiquitination
            of PIAS4.
REFERENCE   5  (bases 1 to 5417)
  AUTHORS   Michel MA, Elliott PR, Swatek KN, Simicek M, Pruneda JN, Wagstaff
            JL, Freund SM and Komander D.
  TITLE     Assembly and specific recognition of k29- and k33-linked
            polyubiquitin
  JOURNAL   Mol Cell 58 (1), 95-109 (2015)
   PUBMED   25752577
REFERENCE   6  (bases 1 to 5417)
  AUTHORS   Kim JB, Kim SY, Kim BM, Lee H, Kim I, Yun J, Jo Y, Oh T, Jo Y, Chae
            HD and Shin DY.
  TITLE     Identification of a novel anti-apoptotic E3 ubiquitin ligase that
            ubiquitinates antagonists of inhibitor of apoptosis proteins SMAC,
            HtrA2, and ARTS
  JOURNAL   J Biol Chem 288 (17), 12014-12021 (2013)
   PUBMED   23479728
REFERENCE   7  (bases 1 to 5417)
  AUTHORS   Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C,
            Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A,
            Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du
            H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon O,
            Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere F,
            Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors
            M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A,
            Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S,
            Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C,
            Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette
            S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D,
            Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A,
            Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C,
            Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D,
            Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J,
            Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F,
            Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F,
            Waterston R, Hood L and Weissenbach J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
  REMARK    Erratum:[Nature. 2023 Aug;620(7973):E17. PMID: 37491470]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK304217.1, SRR1803617.12469.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000356357.9/ ENSP00000348714.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI459956.1, BC032944.2, AB002315.1 and AC007956.5.
            On Nov 22, 2018 this sequence version replaced NM_001039479.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5417
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..5417
                     /gene="AREL1"
                     /gene_synonym="FIEL1; KIAA0317"
                     /note="apoptosis resistant E3 ubiquitin protein ligase 1"
                     /db_xref="GeneID:9870"
                     /db_xref="HGNC:HGNC:20363"
                     /db_xref="MIM:615380"
     misc_feature    470..472
                     /gene="AREL1"
                     /gene_synonym="FIEL1; KIAA0317"
                     /note="upstream in-frame stop codon"
     CDS             482..2953
                     /gene="AREL1"
                     /gene_synonym="FIEL1; KIAA0317"
                     /EC_number="2.3.2.26"
                     /note="isoform 1 is encoded by transcript variant 1;
                     fibrosis-inducing E3 ligase 1; apoptosis-resistant
                     HECT-type E3 ubiquitin transferase 1"
                     /codon_start=1
                     /product="apoptosis-resistant E3 ubiquitin protein ligase 1
                     isoform 1"
                     /protein_id="NP_001034568.1"
                     /db_xref="CCDS:CCDS41971.1"
                     /db_xref="GeneID:9870"
                     /db_xref="HGNC:HGNC:20363"
                     /db_xref="MIM:615380"
                     /translation="MFYVIGGITVSVVAFFFTIKFLFELAARVVSFLQNEDRERRGDRT
                     IYDYVRGNYLDPRSCKVSWDWKDPYEVGHSMAFRVHLFYKNGQPFPAHRPVGLRVHISH
                     VELAVEIPVTQEVLQEPNSNVVKVAFTVRKAGRYEITVKLGGLNVAYSPYYKIFQPGMV
                     VPSKTKIVCHFSTLVLTCGQPHTLQIVPRDEYDNPTNNSMSLRDEHNYTLSIHELGPQE
                     EESTGVSFEKSVTSNRQTFQVFLRLTLHSRGCFHACISYQNQPINNGEFDIIVLSEDEK
                     NIVERNVSTSGVSIYFEAYLYNATNCSSTPWHLPPMHMTSSQRRPSTAVDEEDEDSPSE
                     CHTPEKVKKPKKVYCYVSPKQFSVKEFYLKIIPWRLYTFRVCPGTKFSYLGPDPVHKLL
                     TLVVDDGIQPPVELSCKERNILAATFIRSLHKNIGGSETFQDKVNFFQRELRQVHMKRP
                     HSKVTLKVSRHALLESSLKATRNFSISDWSKNFEVVFQDEEALDWGGPRREWFELICKA
                     LFDTTNQLFTRFSDNNQALVHPNPNRPAHLRLKMYEFAGRLVGKCLYESSLGGAYKQLV
                     RARFTRSFLAQIIGLRMHYKYFETDDPEFYKSKVCFILNNDMSEMELVFAEEKYNKSGQ
                     LDKVVELMTGGAQTPVTNANKIFYLNLLAQYRLASQVKEEVEHFLKGLNELVPENLLAI
                     FDENELELLMCGTGDISVSDFKAHAVVVGGSWHFREKVMRWFWTVVSSLTQEELARLLQ
                     FTTGSSQLPPGGFAALCPSFQIIAAPTHSTLPTAHTCFNQLCLPTYDSYEEVHRMLQLA
                     ISEGCEGFGML"
     misc_feature    635..955
                     /gene="AREL1"
                     /gene_synonym="FIEL1; KIAA0317"
                     /note="propagated from UniProtKB/Swiss-Prot (O15033.3);
                     Region: Filamin"
     misc_feature    1424..1516
                     /gene="AREL1"
                     /gene_synonym="FIEL1; KIAA0317"
                     /note="propagated from UniProtKB/Swiss-Prot (O15033.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1928..2848
                     /gene="AREL1"
                     /gene_synonym="FIEL1; KIAA0317"
                     /note="propagated from UniProtKB/Swiss-Prot (O15033.3);
                     Region: Interaction with SOCS2.
                     /evidence=ECO:0000269|PubMed:31578312"
     regulatory      5400..5405
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AREL1"
                     /gene_synonym="FIEL1; KIAA0317"
                     /note="hexamer: AATAAA"
     polyA_site      5417
                     /gene="AREL1"
                     /gene_synonym="FIEL1; KIAA0317"
                     /note="major polyA site"
ORIGIN
        1 aatcccccga gccggttccc aggccgggtg gagaccaact ctggggtctg ttggtgggag
       61 agtggggagc ccgtcttctg ctgagtgctg ccgccccttc ccaggacagc ggaggtggaa
      121 cttcgtcgcg ctgcaacccc cggctcggga tcctggggcg tcctttggca gtcgattgca
      181 ccctgcacta gagagaagtc caggaatgat atattcttgg gctgtatttc tctaccctgg
      241 agttcatcca gttcatccca gaaacactga cctgattact gtgacaaagt ctgatggata
      301 gaccctttct gttgaccttg tggcgttttt ctttcatgtg gaagttggaa gacaaggtga
      361 aaggggccaa aagttacctg ctttggtgaa taggagtgct ctacttggtt ctcagaacat
      421 gggccctcgt ttaaagctgc agctgtgatc ctcggctgtc tgttggcatt gacgggacct
      481 gatgttttac gttattggtg gaatcacagt gtctgtggtt gcattcttct tcacaattaa
      541 gttcctcttt gagcttgccg cacgtgtagt cagcttcctc cagaatgagg accgcgagcg
      601 ccgaggggac cggactattt atgactacgt gcggggaaat tacctggatc cccggtcttg
      661 caaagtctcc tgggattgga aggaccccta tgaggtgggc cacagcatgg ccttccgagt
      721 gcatttattc tataagaacg ggcagccttt ccctgcacat cggcctgtgg gactaagagt
      781 tcacatctct catgtcgagc tagcagtgga aattccagtg acccaggaag tccttcagga
      841 gcccaattcc aacgtagtaa aagtggcctt cactgtgcgc aaggctgggc gttatgaaat
      901 cacagtgaag cttggtggat taaatgtggc atatagtccc tactacaaaa tttttcaacc
      961 tggaatggtg gttccttcta agaccaaaat tgtgtgccac ttttctactc ttgtattgac
     1021 ctgtgggcag ccgcacaccc ttcaaatagt accccgagat gagtatgata atcccaccaa
     1081 caattccatg tccttgagag atgagcacaa ttacaccttg tccattcatg agctcggccc
     1141 tcaagaagaa gagagtactg gtgtctcatt tgagaaatca gtaacatcca acaggcagac
     1201 tttccaggtg ttcttgcgac tcaccctgca ttctcgaggc tgcttccatg cttgcatttc
     1261 ataccaaaat cagccaatca ataatggtga atttgacatt attgtcctaa gtgaggatga
     1321 gaagaatatc gtcgaacgca atgtgtccac ttcaggcgtg agcatttact ttgaggctta
     1381 tctttataat gctaccaact gtagcagcac tccatggcac ctgccaccca tgcacatgac
     1441 ctcttcccag cgccggccat ccactgctgt tgacgaggaa gatgaagact cgccctctga
     1501 gtgccacacc cctgagaagg tgaagaaacc gaagaaggtg tactgctatg tgtcaccaaa
     1561 gcaattctca gtgaaggagt tctacctgaa gatcatcccc tggcgccttt acaccttccg
     1621 agtgtgtcca ggaacaaaat tttcatacct tggtcctgac cctgtccata agctgctcac
     1681 actggtggtg gatgatggca ttcaacctcc tgtggagctc agctgtaagg agaggaacat
     1741 tctagcagcc acttttatcc gctccctgca taagaacata ggaggctctg agacctttca
     1801 ggacaaggtg aactttttcc agcgagagct tcggcaggta catatgaaaa gaccacattc
     1861 caaagtcacc ctgaaggtca gcagacatgc cttgttggaa tcgtctctga aagccactcg
     1921 gaatttctcc atctcagatt ggagcaagaa ctttgaggtt gttttccagg atgaagaagc
     1981 tctggactgg ggagggcctc gccgggaatg gtttgagcta atctgcaaag cactatttga
     2041 taccaccaat cagctcttca cccggttcag tgacaacaac caagcattag tgcatcccaa
     2101 ccctaatcgc cccgctcatc tgcgcctgaa aatgtatgag tttgcgggac ggctcgtggg
     2161 caagtgtctc tatgagtcct ctctaggagg agcctacaag cagttggtcc gagctcgctt
     2221 cacccgctct ttcctggccc aaatcatagg actgcgtatg cattacaagt actttgaaac
     2281 agatgaccca gaattctaca aatctaaagt ttgttttatc ctcaacaatg acatgagtga
     2341 gatggagctg gtctttgcag aagagaaata taataaatca ggtcaattgg ataaggttgt
     2401 agaactcatg acaggtggag ctcaaactcc agtcaccaat gcgaataaaa tcttctattt
     2461 aaatttgctg gcccaatatc ggctggccag tcaagtgaaa gaggaggtgg aacatttcct
     2521 aaaaggcctg aatgaattgg tccctgagaa ccttttggct atttttgatg agaatgagct
     2581 tgagctgctg atgtgtggga ctggagacat cagtgtgtct gacttcaaag cccatgcagt
     2641 agttgttggt ggctcatggc atttcagaga aaaggtcatg aggtggtttt ggactgtggt
     2701 ttccagtctg acccaggagg agttggctcg gctacttcag ttcacaacag gctcctctca
     2761 gctaccacct ggaggctttg ccgccctctg tccctcattt cagattattg ccgctccgac
     2821 ccatagcacg ctgcctactg cacacacatg ttttaaccag ctgtgcctcc ctacatatga
     2881 ctcctatgaa gaggtgcaca ggatgctgca gctggccatc agcgagggtt gcgagggctt
     2941 tggcatgctc tgaccactct cctgtcatcc agttggctcc catgctctct ggagcttctg
     3001 ggcgcaagtt acagacatca taaccactga tcctaacaca cataaccatc agccagaaga
     3061 tgccgcatgc tcccctgtgt ctggaggatt ttgtcaccta caagccttgt ctttacctca
     3121 cctgctccct gcccatatct accacaggcc actttggcat ggtatgtaag ctgagctctt
     3181 cattctgtca tgagaagagg accatgctgc tatcatttat ttggtccttt gaagatctca
     3241 gtagctgagg gagatggcac acggggctca gccctgttgg gaaactggtg tggagaccct
     3301 taaatccaca ctgtgctcca aaactccctc tgctgatact ccttggagac accctctttg
     3361 gccctcacta cttgaccaga ctggtacttg agtccttctc atgggtgggg tgattgcctc
     3421 ttctcatcag gagccaggag agagggggac agataggagg tggcccatag gagcagtccc
     3481 gctgcacaat ggtaggcata ggccatggca ctggactgcc tctaaggact gctaaaaaga
     3541 atattttttt gtggtgtcag aactggaaaa agcactttcc cttcgggcat ttctggaaat
     3601 gattattaat ccacaaagaa gaactctgta agctttttct tgaattgtag ccagtgagaa
     3661 aagcagatag actgaagaat atgaaggata gctgagctgt agcctccaga gtggggcatg
     3721 cctaggcata tggctggctt ggagactact gatgcttttc cctgagtttg ttattggcac
     3781 tgaagtatgg ccggcttggg ccactgactt ccccattatg tagtctgcta aaagctgggg
     3841 atcctttagc attctactga agaaaatttt gtagcaaaag attagaacag taagaatagt
     3901 atgccagcaa tccctgattc tctctctgct tggtgttctc tggcagcact aagacaaagg
     3961 aacagggact aggagtttac gtgcttatca caggtccttg gcgtcaggac actagggatg
     4021 aacatggagg tgatatgtta cacagtaaac acctgccaac ccctgtactc ccctttgctc
     4081 catcagttat caggaaggag aactaaggag ggaggaagct tattaggttc actgttgaat
     4141 gatgattgaa gagtacctgc tgctgtatct tggaagatga caacatcctt tttcattact
     4201 gtttgattga aaataatttc aagattcaaa atctcattga cttcccaaat ttgtgttttt
     4261 aagaaggctt tgctgcaagc taccattccc aatggggcag tcaactctga gaatattaca
     4321 agccatcttt attgccaaaa ccagcaagta cacagagtcc tgaaacaagg caggactttg
     4381 gcaatgcctt ggcctcctgg aagcatgtct gagccctcct gttcgcaggg atcatgagga
     4441 acaagccctc ctgagctgct acagttcctg cctgacctca gtctttcgca gtcatcattt
     4501 gtcctttctt ggcacatggg tgctgacctc actcatcctt ggggtccggg atccagcatc
     4561 agggtctcta taccccagga tcctccatgc cacatggtca ctgctctcct cagggaccag
     4621 gacaaggtgc tgctgcttgc ccaaatgttt tcccatggga tatgtaccgg aaggtttatc
     4681 accaccctgg gaaacataat gctgcccctt gggcccagaa aggggtttcc agctgggggc
     4741 acgtggactg gttctgctgt ttttggcagt cgcttttctg aattctcccc tccggcagcc
     4801 ttccagagac tgatcctgga gattgagttg attgtcttgg ctagacctgt cattttaagc
     4861 tctagtcata gcactttttc agagcatctt aggcaccatt gcaacccaac cagggaagct
     4921 gcatccctgt ggtggtcctt aggcaccagt ctttgttaaa caaaaccctt tggcactatt
     4981 gtggttttct attctctgtc tgaactctat tcaaaagtat ctttgctctc ttgggccttt
     5041 tcttttactg ttttgttttt tttttttcta atcctgcttt catactagcc agtgtgggga
     5101 aaaggtacaa tatgtcaaag agatgagaga gtgttatttc ttgggcaatt ttctattagt
     5161 gtttcttatt ttggccagtt cttttattta tgtccttgtg acccaggtac ttggggggcc
     5221 agctaccctt ctggcctttt agcgtctttg aaggagacca gacatgagtg aatacctagg
     5281 agagtgtcag catgtttctg gaaaattggc agagaccaag ccctgctgca gattcgtcag
     5341 gccaggtgaa agggccaggc agttgcagct gatgatgtaa atattttgta cagtagataa
     5401 ataaatgttt aaaagaa
//
LOCUS       NM_001039496             780 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens catsper channel auxiliary subunit zeta (CATSPERZ),
            mRNA.
ACCESSION   NM_001039496
VERSION     NM_001039496.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 780)
  AUTHORS   Sinha A, Singh V, Singh S and Yadav S.
  TITLE     Proteomic analyses reveal lower expression of TEX40 and ATP6V0A2
            proteins related to calcium ion entry and acrosomal acidification in
            asthenozoospermic males
  JOURNAL   Life Sci 218, 81-88 (2019)
   PUBMED   30550884
  REMARK    GeneRIF: Low TEX40 expression is associated with asthenozoospermia.
REFERENCE   2  (bases 1 to 780)
  AUTHORS   Chung JJ, Miki K, Kim D, Shim SH, Shi HF, Hwang JY, Cai X, Iseri Y,
            Zhuang X and Clapham DE.
  TITLE     CatSperzeta regulates the structural continuity of sperm Ca2+
            signaling domains and is required for normal fertility
  JOURNAL   Elife 6, e23082 (2017)
   PUBMED   28226241
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 780)
  AUTHORS   Micci F, Panagopoulos I, Thorsen J, Davidson B, Trope CG and Heim S.
  TITLE     Low frequency of ESRRA-C11orf20 fusion gene in ovarian carcinomas
  JOURNAL   PLoS Biol 12 (2), e1001784 (2014)
   PUBMED   24504521
  REMARK    GeneRIF: The frequency of the ESRRA/C11orf20 gene fusion in serous
            ovarian carcinomas of stages III and IV must be very low.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 780)
  AUTHORS   Salzman J, Marinelli RJ, Wang PL, Green AE, Nielsen JS, Nelson BH,
            Drescher CW and Brown PO.
  TITLE     ESRRA-C11orf20 is a recurrent gene fusion in serous ovarian
            carcinoma
  JOURNAL   PLoS Biol 9 (9), e1001156 (2011)
   PUBMED   21949640
  REMARK    GeneRIF: ESRRA-C11orf20, a gene fusion between ESRRA and C11orf20
            (TEX40) is recurrent serous ovarian carcinoma.
REFERENCE   5  (bases 1 to 780)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.170070.1,
            SRR5189667.254049.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2142853 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000328404.8/ ENSP00000491717.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001453.6 and AL117564.1.
            On Nov 22, 2018 this sequence version replaced NM_001039496.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..780
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..780
                     /gene="CATSPERZ"
                     /gene_synonym="C11orf20; TEX40"
                     /note="catsper channel auxiliary subunit zeta"
                     /db_xref="GeneID:25858"
                     /db_xref="HGNC:HGNC:19231"
                     /db_xref="MIM:617511"
     CDS             54..656
                     /gene="CATSPERZ"
                     /gene_synonym="C11orf20; TEX40"
                     /note="testis-expressed sequence 40 protein;
                     testis-expressed protein 40; testis expressed 40;
                     catSperzeta; catSper-zeta; cation channel sperm-associated
                     protein subunit zeta"
                     /codon_start=1
                     /product="cation channel sperm-associated auxiliary subunit
                     zeta"
                     /protein_id="NP_001034585.1"
                     /db_xref="GeneID:25858"
                     /db_xref="HGNC:HGNC:19231"
                     /db_xref="MIM:617511"
                     /translation="MEEKPSKVSLKSSDRQGSDEESVHSDTRDLWTTTTLSQAQLNMPL
                     SEVCEGFDEEGRNISKTRGWHSPGRGSLDEGYKASHKPEELDEHALVELELHRGSSMEI
                     NLGEKDTASQIEAEKSSSMSSLNIAKHMPHRAYWAEQQSRLPLPLMELMENEALEILTK
                     ALRSYQLGIGRDHFLTKELQRYIEGLKKRRSKRLYVN"
     misc_feature    54..146
                     /gene="CATSPERZ"
                     /gene_synonym="C11orf20; TEX40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NTU4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    225..287
                     /gene="CATSPERZ"
                     /gene_synonym="C11orf20; TEX40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NTU4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      760..765
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CATSPERZ"
                     /gene_synonym="C11orf20; TEX40"
                     /note="hexamer: AATAAA"
     polyA_site      780
                     /gene="CATSPERZ"
                     /gene_synonym="C11orf20; TEX40"
                     /note="major polyA site"
ORIGIN
        1 gactcccttc tcgtctcgag gcctgtggcg tctgggtccg ttggggcaga accatggagg
       61 aaaagccttc gaaagtgtcg ctcaagtctt ccgaccgcca aggctcggac gaggagagcg
      121 tgcatagcga cactcgggac ctgtggacca cgaccacgct gtcccaggca cagctgaaca
      181 tgccgctgtc cgaggtctgc gagggcttcg acgaggaggg ccgcaacatt agcaagaccc
      241 gcgggtggca cagcccgggg cggggctcgt tggacgaggg gtacaaggcc agccacaagc
      301 cggaggaact ggacgagcac gcgctggtgg agctggagtt gcaccgcggc agctccatgg
      361 aaatcaatct gggggagaag gacactgcat cccagatcga ggccgaaaag tcttcctcaa
      421 tgtcatcact caatattgcg aagcacatgc cccatcgagc ctactgggca gagcagcaga
      481 gcaggctgcc actgcccctg atggaactca tggagaatga agctctggaa atcctcacca
      541 aagccctccg gagctaccag ttagggatcg gcagggacca cttcctgact aaggagctgc
      601 agcgatacat cgaagggctc aagaagcgcc ggagcaagag gctgtacgtg aattaaaaac
      661 gccaccttgg gctcgagcag cgacccgaac cagccccgtg ccagcccggt ccccagaccc
      721 aagcctgacc ccatccgagt ggaatttgag tcctaaagaa ataaaagagt cgatgcatgg
//
LOCUS       NM_001039500            9143 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens von Willebrand factor A domain containing 5B1 (VWA5B1),
            transcript variant 1, mRNA.
ACCESSION   NM_001039500
VERSION     NM_001039500.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9143)
  AUTHORS   Rose JE, Behm FM, Drgon T, Johnson C and Uhl GR.
  TITLE     Personalized smoking cessation: interactions between nicotine dose,
            dependence and quit-success genotype score
  JOURNAL   Mol Med 16 (7-8), 247-253 (2010)
   PUBMED   20379614
  REMARK    GeneRIF: Clinical trial of gene-disease association and
            gene-environment interaction. (HuGE Navigator) Erratum:[Mol Med.
            2012;18(1):729]
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2144335 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000289815.13/ ENSP00000289815.9
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL020998.1.
            On Dec 8, 2018 this sequence version replaced NM_001039500.2.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..9143
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     gene            1..9143
                     /gene="VWA5B1"
                     /note="von Willebrand factor A domain containing 5B1"
                     /db_xref="GeneID:127731"
                     /db_xref="HGNC:HGNC:26538"
     misc_feature    226..228
                     /gene="VWA5B1"
                     /note="upstream in-frame stop codon"
     CDS             241..3888
                     /gene="VWA5B1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; von Willebrand factor A domain-containing protein 5B1"
                     /codon_start=1
                     /product="von Willebrand factor A domain-containing protein
                     5B1 isoform 1 precursor"
                     /protein_id="NP_001034589.2"
                     /db_xref="GeneID:127731"
                     /db_xref="HGNC:HGNC:26538"
                     /translation="MPGLLNWITGAALPLTASDVTSCVSGYALGLTASLTYGNLEAQPF
                     QGLFVYPLDECTTVIGFEAVIADRVVTVQIKDKAKLESGHFDASHVRSPTVTGNILQDG
                     VSIAPHSCTPGKVTLDEDLERILFVANLGTIAPMENVTIFISTSSELPTLPSGAVRVLL
                     PAVCAPTVPQFCTKSTGTSNQQAQGKDRHCFGAWAPGSWNKLCLATLLNTEVSNPMEYE
                     FNFQLEIRGPCLLAGVESPTHEIRADAAPSARSAKSIIITLANKHTFDRPVEILIHPSE
                     PHMPHVLIEKGDMTLGEFDQHLKGRTDFIKGMKKKSRAERKTEIIRKRLHKDIPHHSVI
                     MLNFCPDLQSVQPCLRKAHGEFIFLIDRSSSMSGISMHRVKDAMLVALKSLMPACLFNI
                     IGFGSTFKSLFPSSQTYSEDSLAMACDDIQRMKADMGGTNILSPLKWVIRQPVHRGHPR
                     LLFVITDGAVNNTGKVLELVRNHAFSTRCYSFGIGPNVCHRLVKGLASVSEGSAELLME
                     GERLQPKMVKSLKKAMAPVLSDVTVEWIFPETTEVLVSPVSASSLFPGERLVGYGIVCD
                     ASLHISNPRSDKRRRYSMLHSQESGSSVFYHSQDDGPGLEGGDCAKNSGAPFILGQAKN
                     ARLASGDSTTKHDLNLSQRRRAYSTNQITNHKPLPRATMASDPMPAAKRYPLRKARLQD
                     LTNQTSLDVQRWQIDLQPLLNSGQDLNQGPKLRGPGARRPSLLPQGCQPFLPWGQETQA
                     WSPVRERTSDSRSPGDLEPSHHPSAFETETSSDWDPPAESQERASPSRPATPAPVLGKA
                     LVKGLHDSQRLQWEVSFELGTPGPERGGAQDADLWSETFHHLAARAIIRDFEQLAEREG
                     EIEQGSNRRYQVSALHTSKACNIISKYTAFVPVDVSKSRYLPTVVEYPNSGAALRMLGS
                     RALAQQWRGTSSGFGRPQTMLGEDSAPGNDMEASPTALFSEARSPGREKHGASEGPQRS
                     LATNTLSSMKASENLFGSWLNLNKSRLLTRAAKGFLSKPLIKAVESTSGNQSFDYIPLV
                     SLQLASGAFLLNEAFCEATHIPMEKLKWTSPFTCHRVSLTTRPSESKTPSPQLCTSSPP
                     RHPSCDSFSLEPLAKGKLGLEPRAVVEHTGKLWATVVGLAWLEHSSASYFTEWELVAAK
                     ANSWLEQQEVPEGRTQGTLKAAARQLFVLLRHWDENLEFNMLCYNPNYV"
     sig_peptide     241..294
                     /gene="VWA5B1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    658..660
                     /gene="VWA5B1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5TIE3.2); glycosylation site"
     misc_feature    2188..2190
                     /gene="VWA5B1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5TIE3.2); glycosylation site"
     misc_feature    2383..2661
                     /gene="VWA5B1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TIE3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2881..2883
                     /gene="VWA5B1"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5TIE3.2); phosphorylation site"
     misc_feature    3151..3210
                     /gene="VWA5B1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TIE3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3274..3276
                     /gene="VWA5B1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5TIE3.2); glycosylation site"
     misc_feature    3502..3570
                     /gene="VWA5B1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5TIE3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      9123..9128
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VWA5B1"
                     /note="hexamer: GATAAA"
     polyA_site      9143
                     /gene="VWA5B1"
                     /note="major polyA site"
ORIGIN
        1 gacaaaacaa atggctcggc ctcctgcagg ccacctaaac agctatcgca atgtgggcat
       61 tgatcaagcc agctgccagg gcagcgggcg cagggcttgg gcactggagc ccagccccgg
      121 accgcacctc cagcagtgct gggtgcagaa ggcagtcact gtggcagtgg agagacagag
      181 tgtgtaccca gacacgtgtt gcttctgggg taaggttctg aaggctgagt agccagcggg
      241 atgcccggct tgctgaattg gatcacgggg gcagccctgc ccctcaccgc gtctgatgtt
      301 acctcctgtg tcagcggtta tgccctgggc ctaactgcct ccctcaccta tggcaacctg
      361 gaagcccagc ccttccaggg cctcttcgtg taccccctgg atgagtgcac cacggtgatc
      421 ggctttgagg cagtcattgc cgaccgtgtc gtgacagtac agatcaagga caaagccaag
      481 ctggagagcg gccacttcga tgcctcccat gttcgatccc caacagtcac agggaacatt
      541 ctgcaagacg gggtttccat agcccctcat tcctgcacac cgggaaaggt gaccttggac
      601 gaggatttgg agcggatcct gttcgtggcc aacctgggga ccattgcccc catggagaat
      661 gtcaccatct tcatcagcac ctcctcggag ctcccaacgc tgcccagcgg ggctgtgagg
      721 gtccttctgc ctgctgtctg tgccccaacc gtgccccagt tctgcaccaa gagcactggc
      781 acctccaacc aacaggccca gggcaaagac aggcactgct tcggtgcctg ggccccgggc
      841 tcctggaata agttgtgcct ggcgactctc ctgaacaccg aagtgtccaa ccccatggag
      901 tatgagttca acttccagct ggagatccgt gggccatgtc tgctcgcagg ggtggagagt
      961 cccactcatg agattcgtgc cgacgccgcc ccatctgccc gctcggccaa gagcatcatc
     1021 atcaccttgg ccaacaagca cacctttgac cggcctgtgg agatcctcat ccaccccagc
     1081 gagccccata tgccccatgt cctgatagag aaaggggaca tgaccctggg agagtttgac
     1141 cagcacttga agggaagaac agatttcatt aaagggatga agaagaagag cagagcagag
     1201 cggaagacag aaatcattcg aaaacgcctc cacaaagaca ttccccacca ctccgtcatc
     1261 atgctcaact tctgtcccga cctccagtca gtccagccgt gcctgagaaa ggcccacggg
     1321 gagttcatct tcctcattga caggagcagc agcatgagcg ggatcagcat gcaccgagtc
     1381 aaggatgcca tgttggtggc ccttaagagc ctcatgccag cctgcctctt caatatcatt
     1441 gggtttggat ccacatttaa gagccttttt ccttccagcc agacctacag tgaggacagc
     1501 ttggccatgg cttgtgatga catccagaga atgaaggccg acatgggtgg gaccaacatc
     1561 ctttcccctc tcaagtgggt catcaggcag ccagtgcacc gaggccaccc gcggctcctc
     1621 ttcgtgatca cagatggcgc tgtcaacaac acagggaagg tgctggagct ggtgcgaaat
     1681 cacgccttct ccaccaggtg ctatagcttt ggaattggac ccaacgtctg ccacagactg
     1741 gtgaaaggac tggcatctgt gtccgagggc agtgctgagc tcctgatgga gggggagcgg
     1801 ctgcaaccca agatggtcaa atccttgaag aaggccatgg ccccagtcct gagcgatgtg
     1861 actgtggagt ggatcttccc tgagaccact gaggtcctgg tctcacccgt cagcgccagc
     1921 tccctcttcc ctggagaacg gctggtgggg tatggcattg tatgtgatgc ttctttgcac
     1981 atctccaatc ccagatctga caagaggcgc cggtacagca tgctgcactc tcaggagtct
     2041 ggcagctctg tcttctacca ctctcaggat gacggacccg ggctggaagg tggagactgt
     2101 gccaagaact cgggggcacc cttcatccta gggcaggcca aaaatgcccg gctagccagc
     2161 ggagactcta ccaccaagca cgatctgaac ctctctcagc gacggagggc atacagcacc
     2221 aaccagatca ccaatcacaa gcccctccca agagccacca tggcaagtga ccccatgcca
     2281 gctgccaaga gatacccact gcggaaagcc aggctgcagg acctcaccaa ccagaccagc
     2341 ctggatgtcc agcggtggca gattgatttg cagcccttgc tgaacagtgg tcaggacctg
     2401 aaccagggcc ccaaactccg tggcccaggg gcccgaaggc cctctctgct gccccaaggc
     2461 tgccagccct tcctgccctg gggccaggag acccaggcct ggagccctgt gagagagcgg
     2521 acttctgaca gccgaagccc tggagatctg gagccgtccc accatccctc tgccttcgag
     2581 acagagacgt cctcggactg ggacccccca gccgagtccc aggagcgagc cagtcccagc
     2641 aggcccgcca ccccggcccc ggtgctgggc aaggccctgg tcaaaggcct gcacgacagc
     2701 caacgcctgc agtgggaggt gagcttcgag ctggggaccc ctggaccgga gcggggcggc
     2761 gcgcaggatg ccgacctatg gagcgagacc ttccaccacc tggcggcccg cgccatcatc
     2821 cgcgacttcg agcagctggc ggagcgcgag ggcgagatcg agcaggggtc caaccgccgc
     2881 taccaagtga gcgccttgca caccagcaag gcctgcaaca tcattagcaa atacacagcc
     2941 ttcgtgcctg tggacgtgag caagagccgg tacctgccca ccgtggtgga gtaccccaac
     3001 tctggagctg ccctgcgtat gcttggctct cgggccctgg cccaacagtg gaggggcacc
     3061 tcttctggct ttggaaggcc gcagacgatg cttggagaag attcggcacc aggaaatgac
     3121 atggaggcaa gtcccactgc tctcttcagc gaggccaggt cccccggccg cgagaagcac
     3181 ggtgcttctg aaggtcccca gcgcagcctg gctacaaata ctctttcttc catgaaggcc
     3241 tcagagaatc tctttggatc ctggctaaat ctcaacaagt ccaggctact gacgcgagca
     3301 gccaagggct tcctgagcaa gccactgatc aaagctgtgg agtcgacctc cgggaaccag
     3361 agcttcgact acatacctct ggtgtctctg cagctggcct ccggagcctt cctgctcaac
     3421 gaagccttct gtgaggccac gcacatcccc atggagaagc tcaagtggac gtcccccttc
     3481 acctgccatc gagtgtccct caccacccgc ccgtctgagt ccaagacccc gagtccccag
     3541 ctgtgcacca gctccccgcc taggcacccg tcctgtgaca gcttctccct ggagcctctg
     3601 gccaagggca agctgggcct ggagccgagg gcagtggtgg agcacactgg gaagctgtgg
     3661 gccacggtgg tggggctggc atggctggag cacagttcgg cctcctactt cactgagtgg
     3721 gagttggtgg ctgccaaggc caactcatgg ctggagcagc aggaagtacc cgagggccgc
     3781 acgcagggca cactcaaggc cgctgcccgc cagctgtttg tgcttctgcg gcactgggat
     3841 gagaatctcg agttcaatat gctctgctat aacccgaatt atgtgtagtt gagtgacggg
     3901 gaggctgggt ggagggaagg gtggggagga gagggatggg cagggccatg tcggcctggt
     3961 ttcggggagc ttttggagct gtaactaata tttcagttac tagaaagagc cctggactgg
     4021 cagccaggag gcctgagttc aatcccaact ttgctaccat ccagccatgc aactttaggc
     4081 cagtgcctgc ccccgtctgg gcctcagttt cctcatctat aaaataagag ggcgagatga
     4141 aggaggtgga gtggatctca aatggttcag tggttccttt ctgcccattc aggcagtccc
     4201 gggctgactg ctgctggggc tggcgaggga agatgcagtg gaagcctgag ccctgtctgg
     4261 aggtagacca cgtgggcacg gagtggacac agcaatgccc actcaaataa aagggcagat
     4321 gagagaaccc agtgacctca agtaaccagg cctacaggct tgcataggca catagagact
     4381 agcaagtctg gtgcctgtag gacaggctct tgtctccatg gtaacagcca aggacccccc
     4441 ctaaatccca cttaaaagcc aattggagaa gcatccttct caacgcttta caaaagagta
     4501 gtttgggggc cttttgtttt ggctaggaag cttccttaat acatactagt attgccttgc
     4561 agatcattag tggctccctc actaagaaga ggtggtggca ggaccagggg agacaccttg
     4621 tgagttgacg tgttagattt aagcagcagt ctgtgcaaaa atagtcctaa aagaacagac
     4681 atggtcacag aagtcaatga agacaccaga caacacctta cttaattttc ccacttttag
     4741 gaattgggta aagcgaactg catcacttgt actgaggcac gagggagcca ccaccaagta
     4801 ggtcgcacca tgggatcagg gggtcctctg gagccatgcc acgctgtggg agagaggctt
     4861 ggctgcagtg cctttgggga tggcagctct ggccagggga ggcctgattt gtttggtgaa
     4921 atgaatgaat tgacacttca ggctggatcc cctaggggct tcctgccctc aagcccactg
     4981 tgtgatgcct acatggggaa tggcgtgctg tggccgcaga taccctaatg gctggcatag
     5041 agctgcccag tctcctcttc cccactgact cccctggagg tgggtctaga cctcaccaag
     5101 gaaccccacc agcttgggac ttcaggctga atctatccac cctcgaagcc ccctccttca
     5161 aggccttaat ctctcctcat caaattcctg tcccaacctt ggagtgaagc tccacagact
     5221 tccctcgtgg gaaggccttg gaagcttagc ttatcaaacc aactcgtggg gtcctgcggg
     5281 ctctggcgca agccccggcc tcaggaagac tcgaggggtg tgcagcctcc agcaggggct
     5341 ggagtcaggg aggaggctcc agcagaacgc ccactgggca caaggggaga aaaagcagcc
     5401 ccaacatgat atggtgccct gccccccacc cccacccctc catctatgcc acaagtctcc
     5461 cgcgagggat tctcacagcc cttttgaata cttaagatga aatcccattg ctgccttgtg
     5521 gactggctct gcttcagact taccctctgg ggaggaaccc aggcaggcag gcctggacac
     5581 tgtggccatc acaaccccag gtggggcagg atgccaatct ggggtgttgg ctcaaagtca
     5641 gtgccaccaa ggcgggtaag agctttgggt tgtcttgctc caggcttcca ggagatgtga
     5701 gcggagcttt gtcatctccc tgcacactcc ccatcccctg ccaaaatcac ttctttagct
     5761 atgcaggcag cagcctcagc ttcagggtaa gggtggccgg gggtggcatc tacttcctgg
     5821 accacaagta atggaaaaaa aatgccaggt tttgagtcag aacacccaga ctcaggtctc
     5881 agcctagtac tagtttgggc aagtggtttc tcctcctagg tgccctggag ctggggcttt
     5941 ctcctgctct gacagtccca gactctctgc ctctgagatg tttccctctt catgaacatg
     6001 aatttgcttg agttctctgt gtgaccttga acaagtggcg tgtgtgttct gggcctcttt
     6061 cttcctctac ataaccaggc tgaactgggc tgtccagcac ctccctgccc caccagatga
     6121 gtctgattct gggtctccag gcctcagcct ggacaatggc cagggcttga ggtgaaccgg
     6181 tctctgccag catagaacta gtgctacaag atgcctagca ggagcaacca agaaatccag
     6241 caaggtggtg ggcatgccac ccacttctct aggaaagttc ctcagactgc tcccgcaccg
     6301 gccactggag ctctgcaaca tgtttgaggc ccaagaaaac tgctgatctc tgcaaccctg
     6361 gctcccctgc ccagccccaa aggtgcagaa gaacaaatct tcattggttg caaataaccc
     6421 aagagctatg ggggcaggtc tggacaagag acatttttaa agaacttcag tggtattgag
     6481 atgacatgca gcctcaaaaa cgtgctaccg ggactgctag gcagaggacc taggggactc
     6541 gctttaagga aaagataaga acctttggta attagtacat acattgaagc taacagagtt
     6601 ctaaagtttc tcaagcaggg aacacattgc ccctgcaatc tcatttactt tgggttaatc
     6661 tggtttaact tgctaaacca gcccttgctt tctaggtcat acaaaggaat atttatgccc
     6721 tgcactgtct gaagaaaggg ctaatgccac cgtaagacaa agcccagcct ccaagctgcc
     6781 ttcagtggga aaaacactga gctgagagtt gaggaaccca agcatgggtc ccaactccac
     6841 cactagtgtg ctgtgtgact tctggcaaat tacttgcttt ctctgaaccc ctgtttcatc
     6901 ttttgtggaa tgacgggggt tcacaagatc agcatttcca accctgttcc tcacttagat
     6961 gagacgtgaa taagcaacct atgagaaact gtgctatggg caaagatgtt gaggaagcag
     7021 tagaaagaca aacttcttta gattaggaca acctgacccg ttaatatgtt actgtgcgtt
     7081 gtcaggctcc gagcaggtga cccagcagca gctcttctct ggttactagg tcgcaaaatg
     7141 ctggtctaga tctctcttag ggctcctgcg gcactggcgt tcagaaagcc tttactgggt
     7201 gcctactgta tgccaggcat ggcatactgg ggtaccacag tgaacatacg aggtgctgtc
     7261 cctgtccttt ttggagcttg gcaaggagca tttgaagagt ctctgtttca tgaatcattt
     7321 tcccactcct tggttctcta ggtgggtttg tcttcactgg ccctagaatg gtcctgccat
     7381 ctgtgggtgt ggcctcgtat tagcactacc taggtaccct ttgcgctaac ggccagcccc
     7441 ctgagctttc aggctctcat ttatggtatg ggtacagatg accacaatag ctcatggtat
     7501 tgcacagcca gaggggagtt ggtgctgggg gcctccttgt ccaggtggag caggaatgtc
     7561 cctgcaacag agtgccccga gggcccaacc tcccaccaca tgcagatgca gaaccctgtc
     7621 tcaggcccct cagctcgaga ccaactccag atgccaggat aactgggccc catcctttgg
     7681 cagacttaca ctggacttgt ccataagcgg cctcggtttc cagccggcac ccatgtttcc
     7741 ccagccagtc ccttctctgc gggcaaaatg aatggcatcc cctagccttc actgacctga
     7801 gctgccactc actgccactt gctgtggctg atgaatagac tagctgcttc caagactcga
     7861 ttctggtggg ctttcacctg ctcttcagag acatgaaaag caagggttcc tccttctccc
     7921 ttccagctgg ttcaccagga acagctgtca aaaaaggttt ctggaagttt cctctagatc
     7981 ctgacttgcc ctctgttaat ccctaccctt atttgagggc catgctactg ttccccttct
     8041 ctcttccttg gcagggactc cccatgagag ggaaggagga aagggggtct cccctatctg
     8101 tgtacagtct gcccccccac cctgcaattg cctgccccat tgacctgcct ggctggatcc
     8161 tgtgtgacac cccagcacct atcattcagg ggtccaaatg cccaaatgca catctctcta
     8221 tgtgcccatt ataacatctc taagtggtct ctagaatcaa atgcactcca tacttttagt
     8281 gccctgggaa aggagaggga agggtactgc cgccccatga atggggcatg tgctcattgc
     8341 cttggcatct ggaagatttt gttcttacca atctagcaga gactagagaa gtcaacagaa
     8401 aaaagatgga cacattcttc agctgtaaca tagcatgctc tgcaaagcca gtgtaaaaat
     8461 aaccagggca ggggtgtgtg tggcattttg cagctgggta atctgatccg cagagatctg
     8521 tccaaggtca ggggcttggc agcagctcct ggccacgcct acagctccca accgtggacc
     8581 tctctgccct gtgtgtccag ccctgctccc agcccgttga ctttagcctc tcaacagcac
     8641 tgcctccccg ggttacccga tgaggtggga tttttctcct gttcatgctg caaatctcct
     8701 tggctcaggg ccagccgttt tgagcttaca gccacgtccc aacgcaatgc gcctcatctc
     8761 aatgccgctg actgtggtga cacatgtggt atagtttcac tatctgccca ggtggctttg
     8821 gctcaagtgg catggctggt gcttgtcccc atcagagcct caagtgccta tggcatgcta
     8881 cccgtgccct tgcctgctca tctgtaatgt ccccatagtg cctatgacac tttcttcttc
     8941 ttgggatatg catcacctgc ttgcctggta gccaattaca tagatgtcat ggaagccctg
     9001 gatgtcagcc gtctaatgtc cactaatact cagcaaatcc taccatgggg ctgtgtgtgt
     9061 gtctgttctc aaagaaatgg cttctttgta catggtggct accattatct aggctttgag
     9121 ctgataaaaa ttgttgaacc tga
//
LOCUS       NM_001039503            2149 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens serine protease 53 (PRSS53), mRNA.
ACCESSION   NM_001039503
VERSION     NM_001039503.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2149)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2149)
  AUTHORS   Pankratz N, Beecham GW, DeStefano AL, Dawson TM, Doheny KF, Factor
            SA, Hamza TH, Hung AY, Hyman BT, Ivinson AJ, Krainc D, Latourelle
            JC, Clark LN, Marder K, Martin ER, Mayeux R, Ross OA, Scherzer CR,
            Simon DK, Tanner C, Vance JM, Wszolek ZK, Zabetian CP, Myers RH,
            Payami H, Scott WK and Foroud T.
  CONSRTM   PD GWAS Consortium
  TITLE     Meta-analysis of Parkinson's disease: identification of a novel
            locus, RIT2
  JOURNAL   Ann Neurol 71 (3), 370-384 (2012)
   PUBMED   22451204
REFERENCE   3  (bases 1 to 2149)
  AUTHORS   Stuart PE, Nair RP, Ellinghaus E, Ding J, Tejasvi T, Gudjonsson JE,
            Li Y, Weidinger S, Eberlein B, Gieger C, Wichmann HE, Kunz M, Ike R,
            Krueger GG, Bowcock AM, Mrowietz U, Lim HW, Voorhees JJ, Abecasis
            GR, Weichenthal M, Franke A, Rahman P, Gladman DD and Elder JT.
  TITLE     Genome-wide association analysis identifies three psoriasis
            susceptibility loci
  JOURNAL   Nat Genet 42 (11), 1000-1004 (2010)
   PUBMED   20953189
REFERENCE   4  (bases 1 to 2149)
  AUTHORS   Cal S, Peinado JR, Llamazares M, Quesada V, Moncada-Pazos A,
            Garabaya C and Lopez-Otin C.
  TITLE     Identification and characterization of human polyserase-3, a novel
            protein with tandem serine-protease domains in the same polypeptide
            chain
  JOURNAL   BMC Biochem 7, 9 (2006)
   PUBMED   16566820
  REMARK    GeneRIF: Comparative analysis of polyserase-3 with the two human
            polyserases described to date, revealed that this novel polyprotein
            is more closely related to polyserase-2 than to polyserase-1.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2149)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AJ627035.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2153427,
            SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000280606.7/ ENSP00000280606.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC135050.3.
            On Jul 13, 2021 this sequence version replaced NM_001039503.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2149
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..2149
                     /gene="PRSS53"
                     /gene_synonym="POL3S; UNQ308"
                     /note="serine protease 53"
                     /db_xref="GeneID:339105"
                     /db_xref="HGNC:HGNC:34407"
                     /db_xref="MIM:610561"
     misc_feature    42..44
                     /gene="PRSS53"
                     /gene_synonym="POL3S; UNQ308"
                     /note="upstream in-frame stop codon"
     CDS             135..1796
                     /gene="PRSS53"
                     /gene_synonym="POL3S; UNQ308"
                     /EC_number="3.4.21.-"
                     /note="polyserase-3; EDTP308; polyserine protease 3;
                     protease, serine 53"
                     /codon_start=1
                     /product="serine protease 53 precursor"
                     /protein_id="NP_001034592.1"
                     /db_xref="CCDS:CCDS42153.1"
                     /db_xref="GeneID:339105"
                     /db_xref="HGNC:HGNC:34407"
                     /db_xref="MIM:610561"
                     /translation="MKWCWGPVLLIAGATVLMEGLQAAQRACGQRGPGPPKPQEGNTVP
                     GEWPWQASVRRQGAHICSGSLVADTWVLTAAHCFEKAAATELNSWSVVLGSLQREGLSP
                     GAEEVGVAALQLPRAYNHYSQGSDLALLQLAHPTTHTPLCLPQPAHRFPFGASCWATGW
                     DQDTSDAPGTLRNLRLRLISRPTCNCIYNQLHQRHLSNPARPGMLCGGPQPGVQGPCQG
                     DSGGPVLCLEPDGHWVQAGIISFASSCAQEDAPVLLTNTAAHSSWLQARVQGAAFLAQS
                     PETPEMSDEDSCVACGSLRTAGPQAGAPSPWPWEARLMHQGQLACGGALVSEEAVLTAA
                     HCFIGRQAPEEWSVGLGTRPEEWGLKQLILHGAYTHPEGGYDMALLLLAQPVTLGASLR
                     PLCLPYPDHHLPDGERGWVLGRARPGAGISSLQTVPVTLLGPRACSRLHAAPGGDGSPI
                     LPGMVCTSAVGELPSCEGLSGAPLVHEVRGTWFLAGLHSFGDACQGPARPAVFTALPAY
                     EDWVSSLDWQVYFAEEPEPEAEPGSCLANISQPTSC"
     sig_peptide     135..203
                     /gene="PRSS53"
                     /gene_synonym="POL3S; UNQ308"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     204..1793
                     /gene="PRSS53"
                     /gene_synonym="POL3S; UNQ308"
                     /product="Serine protease 53. /id=PRO_0000316763"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2L4Q9.1)"
     misc_feature    213..272
                     /gene="PRSS53"
                     /gene_synonym="POL3S; UNQ308"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2L4Q9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2129..2134
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRSS53"
                     /gene_synonym="POL3S; UNQ308"
                     /note="hexamer: AATAAA"
     polyA_site      2149
                     /gene="PRSS53"
                     /gene_synonym="POL3S; UNQ308"
                     /note="major polyA site"
ORIGIN
        1 agctaggaac tgctggctag ggcaagcaga cagctgaatc ctagccaact ggaggtggag
       61 cagaggtgga gccagggaga cccaggtggc ctctctcaga gtggagcaca ggtggcagag
      121 tggcccgggg cagcatgaag tggtgctggg gcccagtgct gctcatcgcg ggtgccacag
      181 tcctcatgga gggtcttcaa gccgctcagc gtgcctgtgg acagcgtggc cccggccccc
      241 ccaagcctca ggagggcaac acagtccctg gcgagtggcc ctggcaggcc agtgtgagga
      301 ggcaaggagc ccacatctgc agcggctccc tggtggcaga cacctgggtc ctcactgctg
      361 cccactgctt tgaaaaggca gcagcaacag aactgaattc ctggtcagtg gtcctgggtt
      421 ctctgcagcg tgagggactc agccctgggg ccgaagaggt gggggtggct gccctgcagt
      481 tgcccagggc ctataaccac tacagccagg gctcagacct ggccctgctg cagctcgccc
      541 accccacgac ccacacaccc ctctgcctgc cccagcccgc ccatcgcttc ccctttggag
      601 cctcctgctg ggccactggc tgggatcagg acaccagtga tgctcctggg accctacgca
      661 atctgcgcct gcgtctcatc agtcgcccca catgtaactg tatctacaac cagctgcacc
      721 agcgacacct gtccaacccg gcccggcctg ggatgctatg tgggggcccc cagcctgggg
      781 tgcagggccc ctgtcaggga gattccgggg gccctgtgct gtgcctcgag cctgacggac
      841 actgggttca ggctggcatc atcagctttg catcaagctg tgcccaggag gacgctcctg
      901 tgctgctgac caacacagct gctcacagtt cctggctgca ggctcgagtt cagggggcag
      961 ctttcctggc ccagagccca gagaccccgg agatgagtga tgaggacagc tgtgtagcct
     1021 gtggatcctt gaggacagca ggtccccagg caggagcacc ctccccatgg ccctgggagg
     1081 ccaggctgat gcaccaggga cagctggcct gtggcggagc cctggtgtca gaggaggcgg
     1141 tgctaactgc tgcccactgc ttcattgggc gccaggcccc agaggaatgg agcgtagggc
     1201 tggggaccag accggaggag tggggcctga agcagctcat cctgcatgga gcctacaccc
     1261 accctgaggg gggctacgac atggccctcc tgctgctggc ccagcctgtg acactgggag
     1321 ccagcctgcg gcccctctgc ctgccctatc ctgaccacca cctgcctgat ggggagcgtg
     1381 gctgggttct gggacgggcc cgcccaggag caggcatcag ctccctccag acagtgcccg
     1441 tgaccctcct ggggcctagg gcctgcagcc ggctgcatgc agctcctggg ggtgatggca
     1501 gccctattct gccggggatg gtgtgtacca gtgctgtggg tgagctgccc agctgtgagg
     1561 gcctgtctgg ggcaccactg gtgcatgagg tgaggggcac atggttcctg gccgggctgc
     1621 acagcttcgg agatgcttgc caaggccccg ccaggccggc ggtcttcacc gcgctccctg
     1681 cctatgagga ctgggtcagc agtttggact ggcaggtcta cttcgccgag gaaccagagc
     1741 ccgaggctga gcctggaagc tgcctggcca acataagcca accaaccagc tgctgacagg
     1801 ggacctggcc attctcagga caagagaatg caggcaggca aatggcatta ctgcccctgt
     1861 cctccccacc ctgtcatgtg tgattccagg caccagggca ggcccagaag cccagcagct
     1921 gtgggaagga acctgcctgg ggccacaggt gcccactccc caccctgcag gacaggggtg
     1981 tctgtggaca ctcccacacc caactctgct accaagcagg cgtctcagct ttcctcctcc
     2041 tttacccttt cagatacaat cacgccagcc acgttgtttt gaaaatttct ttttttgggg
     2101 ggcagcagtt ttcctttttt taaacttaaa taaattgtta caaaataga
//
LOCUS       NM_001039547            9815 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens glycerol kinase 5 (GK5), transcript variant 1, mRNA.
ACCESSION   NM_001039547
VERSION     NM_001039547.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9815)
  AUTHORS   Zhang D, Tomisato W, Su L, Sun L, Choi JH, Zhang Z, Wang KW, Zhan X,
            Choi M, Li X, Tang M, Castro-Perez JM, Hildebrand S, Murray AR,
            Moresco EMY and Beutler B.
  TITLE     Skin-specific regulation of SREBP processing and lipid biosynthesis
            by glycerol kinase 5
  JOURNAL   Proc Natl Acad Sci U S A 114 (26), E5197-E5206 (2017)
   PUBMED   28607088
REFERENCE   2  (bases 1 to 9815)
  AUTHORS   Yu Y, Zhang JH and Zhang BZ.
  TITLE     MicroRNA-135b exerts oncogenic activity in glioblastoma via the
            inhibition of glycerol kinase 5 expression
  JOURNAL   Mol Med Rep 12 (2), 2721-2726 (2015)
   PUBMED   25936394
  REMARK    GeneRIF: miR-135b may function as an oncogene by inhibiting GK5 in
            glioblastoma.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.45336.1,
            SRR1803611.24627.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000392993.7/ ENSP00000418001.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DR000158.1, AK127641.1, BX648359.1, AC108679.6 and BU628781.1.
            On Nov 23, 2018 this sequence version replaced NM_001039547.2.
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the functional protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..9815
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q23"
     gene            1..9815
                     /gene="GK5"
                     /note="glycerol kinase 5"
                     /db_xref="GeneID:256356"
                     /db_xref="HGNC:HGNC:28635"
     misc_feature    80..82
                     /gene="GK5"
                     /note="upstream in-frame stop codon"
     CDS             131..1720
                     /gene="GK5"
                     /EC_number="2.7.1.30"
                     /note="GK 5; glycerokinase 5; ATP:glycerol
                     3-phosphotransferase 5; glycerol kinase 5 (putative)"
                     /codon_start=1
                     /product="putative glycerol kinase 5"
                     /protein_id="NP_001034636.1"
                     /db_xref="CCDS:CCDS33871.1"
                     /db_xref="GeneID:256356"
                     /db_xref="HGNC:HGNC:28635"
                     /translation="MSGLLTDPEQRAQEPRYPGFVLGLDVGSSVIRCHVYDRAARVCGS
                     SVQKVENLYPQIGWVEIDPDVLWIQFVAVIKEAVKAAGIQMNQIVGLGISTQRATFITW
                     NKKTGNHFHNFISWQDLRAVELVKSWNNSLLMKIFHSSCRVLHFFTRSKRLFTASLFTF
                     TTQQTSLRLVWILQNLTEVQKAVEEENCCFGTIDTWLLYKLTKGSVYATDFSNASTTGL
                     FDPYKMCWSGMITSLISIPLSLLPPVRDTSHNFGSVDEEIFGVPIPIVALVADQQSAMF
                     GECCFQTGDVKLTMGTGTFLDINTGNSLQQTTGGFYPLIGWKIGQEVVCLAESNAGDTG
                     TAIKWAQQLDLFTDAAETEKMAKSLEDSEGVCFVPSFSGLQAPLNDPWACASFMGLKPS
                     TSKYHLVRAILESIAFRNKQLYEMMKKEIHIPVRKIRADGGVCKNGFVMQMTSDLINEN
                     IDRPADIDMSCLGAASLAGLAVGFWTDKEELKKLRQSEVVFKPQKKCQEYEMSLENWAK
                     AVKRSMNWYNKT"
     regulatory      9793..9798
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GK5"
                     /note="hexamer: ATTAAA"
     polyA_site      9815
                     /gene="GK5"
                     /note="major polyA site"
ORIGIN
        1 aggcctctct aggctctccg gctgagccgg gttggggccc gggttgggcc gcccggggac
       61 tctggagcat tgggatttgt agcgcgccct ctgggtaggc ggctgtagcg gagaggcgtg
      121 cgggatcggg atgtcggggc tgctcacgga cccggagcag agagcgcagg agccgcggta
      181 ccccggcttc gtgctggggc tggatgtggg cagttctgtg atccgctgcc acgtctatga
      241 ccgggcggcg cgggtctgcg gctccagcgt gcagaaggta gaaaatcttt atcctcaaat
      301 tggctgggta gaaattgatc ctgatgttct ttggattcaa tttgttgccg taataaaaga
      361 agcagtcaaa gctgcaggaa tacagatgaa tcaaattgtt ggtcttggca tttcaacaca
      421 gagagcaact tttattacgt ggaacaagaa aacaggaaat cattttcaca actttataag
      481 ttggcaagac ttaagagctg ttgaacttgt aaaatcttgg aataattctc ttcttatgaa
      541 gatatttcac agttcttgcc gagtgcttca ctttttcact agaagtaaac gactttttac
      601 agccagtttg ttcactttca caacccagca gacttctttg agattggtct ggattttaca
      661 gaacttgact gaggtgcaaa aggcagttga agaagaaaat tgctgctttg ggactattga
      721 tacctggttg ttatataagc tcacaaaagg ttctgtatat gccacagatt tttcaaatgc
      781 tagtacaact ggactttttg acccatataa gatgtgttgg agtgggatga ttacctctct
      841 aatttcgata ccactttctc tcctacctcc tgtgagggac acaagccaca attttggatc
      901 agtggatgaa gagatatttg gtgtgcctat accaatagtt gccttggttg ctgaccagca
      961 atcagccatg tttggagagt gctgcttcca gacaggtgat gtgaaattaa ccatgggaac
     1021 tgggacattt ttggatatta acactggaaa tagccttcaa cagactactg gaggctttta
     1081 tccattaatt gggtggaaga ttgggcaaga agtcgtatgc ttagctgaaa gcaatgcagg
     1141 agacactggt actgccataa aatgggctca gcagttagac cttttcacag atgctgctga
     1201 gactgaaaaa atggccaaaa gtttggagga ttctgaagga gtttgttttg ttccatcttt
     1261 tagtggatta caggctccat taaatgaccc ctgggcatgt gcctctttta tgggtttgaa
     1321 gccttctacc agtaaatacc atcttgtacg agcaatattg gagtcaatag ctttcagaaa
     1381 caaacagtta tatgagatga tgaagaaaga gattcatatt cctgtaagaa aaatccgggc
     1441 agatggagga gtttgtaaga atggttttgt catgcagatg acttcagacc tgattaatga
     1501 gaatatagac agacctgccg acattgacat gtcatgcctg ggtgcagctt ctctagctgg
     1561 ccttgctgtt gggttttgga ctgacaagga ggaactaaag aaactgagac aaagtgaagt
     1621 ggttttcaag ccacagaaga aatgtcaaga atatgaaatg agtctggaaa actgggccaa
     1681 agcagtgaaa cgctccatga attggtataa caagacataa cactaaatga aatgatcaaa
     1741 accataggta gctggtttat gtgacgtgca gatgagatga agctcaggga taacccatat
     1801 gacaatgact aagaggagaa aattttaaat aagcttcata acttaagaag cattgctttt
     1861 aaaaaaacaa aacggaacaa aaaactctta tttttttccc ctaaaccatg gtaaggcagc
     1921 aatacctcaa aactttatat cttctatttt gtagcaaatt ccaaaggaca ttagtcattt
     1981 ccaaccacat tttgacagtt atgggtcctc ttccttttta tactgggtca gtggtacata
     2041 ggaacataat gatttaccat ccaagctaat agttctgggt caagtaccat gcacatattg
     2101 ttccaaaatt atgtgaaacg tatttcttta attctttaag tgggctattt gaagtacata
     2161 tagctaaaaa gaaagaataa ctgagaaaat gtggaatttt gaaacattaa tattttatgt
     2221 ttaaagccat aatttcctaa tattatatcc aaatatgagc ttaatatgtc cctctcagat
     2281 aagcttatga gatagttaat gctttccttt actggtctta aagacactgc cttaattttt
     2341 ccttgttcaa ccaaaatctg agcattcttt ctatgttgaa aacactgaaa aactaatttt
     2401 agttaatgaa ctagaaagaa tattgatttt taagaaacag aaaaatacta cttattttcc
     2461 ttctcaaata acgtttcttt caaaaacttc tggctgaagt ataacatgct ggtagttaac
     2521 ataaatcttg tctttctctt gttctttatc tttctttgtt atttagatgc ttgtataaat
     2581 gtcttttgtt tttattaagt gcctaattga cagagcttaa tttgaagaag tgccctaatt
     2641 tattgaccac ttaagaattg cctttattgg ggtattttat ttgttcctgc gtctttttga
     2701 tgtttgttca gtctactcat ccctgtgagt atgtgtgggg gacagctgat agaagggagg
     2761 agagtgtgtc tatgctcagg attgcccttt agccactcag ccagagatcc acagggagca
     2821 acaaggacag tttcacatgc ttagactttc ttggaagaaa cagtgaggag gagtaagtcg
     2881 tgagtagtgt caagctggat gtagaattgt cctaaggcag ttgaccccac cttccaacat
     2941 gttttcactt tatttgcccc tccctacatt tgggttaggt tccatttgga tttgcagcaa
     3001 taatgacttt atttctctct tggtcaggat ttggcacata aaatcctttt attatagaac
     3061 tagctatttt agttacatag taatgtaact aatggagaga tttatagaga attttgtttt
     3121 tgctgtcata tatgtccatt ttggagacag atatgataga actagaaatt aagttgcatt
     3181 tctgcaagtg ccatttgaat gaacttcaag tatcttctta attattaaat tttctgatga
     3241 aggcattgta acaaatatat agtattatta aatctaatta atatttggaa atattaataa
     3301 ataggtattt tatttactgt aaaaagtcaa acttcattat gtagataaat cttattcttt
     3361 tcattctttc ccctgtttac atccttttta caaagcttag tcaccaatta aagctttcct
     3421 atcaaaatca catggaagct gctctgttgt tttactgtta cacattctgt ttctcagtgg
     3481 gtgtaatttt tttttctttt tctttttttg tagagacagg gtcttgctgt gttgcccagg
     3541 gtagtcttta attcctggcc tcaagtgatc ctcccacctt ggcctcccaa agtgctggga
     3601 ttgcagccgt gaaccactgc acccagccaa tgggtgtaat ttcataggaa ataattcttt
     3661 ttgtcagaat gtactgaatt gtaatattaa tacctgaaaa tttgttagtt cacttctttt
     3721 ccacgttctt ctttcccaac atataaccac aaaataaagg ataaatactt tgggctgtgt
     3781 gcagtggctc atgcctgtaa tcccagcact ttggcaggct gaagtgggcg gatcatttga
     3841 ggtcaggagt ccaacctggt caaacacggt gaaaccctgt ctccactaaa aatacaaaaa
     3901 ttagctggat gtggtggtgc aagcctgtaa tcccagctac tcgggaggct gaggcaggag
     3961 aattgcttga atctgggggg tggaagttgc agtgagccaa gatcatgcca ctgcactgta
     4021 gcctgggcaa cagagcgaca ctgcgtctca aaaaaaaaaa aaaaggatca atacttttca
     4081 gataatgttg gaaagtaact ttgaatgtcc ctcatcggaa ttgagcatct cctcaagtgt
     4141 cagtggctat ttttttcttc tgtgaatcta aaaactaata ttttattttt aatatttgtg
     4201 gccattttta gtgataagac tttaataaat atttttggac ttaactaaaa tcagaaacat
     4261 gaccacattt gcttttgtgg ttgcagaaac agttgataag atcaattgag caacaaaatt
     4321 gtcctttctt tttttttttt ttttttgaga cattgtcatg ctctgttgcc caggctggag
     4381 tgcagtggca tgatctcggc tcactgcaac ctccctctcc tgggctcaag cagtcctcct
     4441 gcctcagcct cccaagtagc tgggatttca ggtatacgtc actacgccca gctgattttt
     4501 gtatttttag tagagacagg gttttaccat gttggccagg ctggtctcaa actcctgacc
     4561 ttgtgaccca cccacctcgg cctcccaaag tgctaggatt acaggcgtga gccaccatgc
     4621 ctggcttgtc ctttctgtct tccaagtttg tttttcattt gtatgctaat atttgaagtt
     4681 tagaaaaatt tgtgctactt ctcagcatgt tttattttcc cattatagat ctatcagata
     4741 tttttagaag gtctgcaact gtctgataaa ggaagagaat gttcctgttc aatctatctt
     4801 aaagtgctac taattgcttt tatactatag acatactgat tttttcatct tttttatcca
     4861 accatggcat ggtttcctaa tctcagcatt gacattttgg actggataaa tctttatttt
     4921 gggatgctat gctgtacttt ataggatgtt tagcaatatc cctgacctct gccctctagc
     4981 tacaagtacc atccccctag ttgttatggc caaaaatgtc ttcaaacatt gccattctga
     5041 gaggcaaaat tgcccccagt tgagagccac tgatacaggc tgttagaaga aaatcgaaga
     5101 ctcagtgaat atagtgtcat actccttttc tttctgcctc attttacctt aggaaatggt
     5161 tgttagcaaa aaaattagtt aatcgtatct tgaaataaat agggtatcta ttttgctgat
     5221 taataaagaa aaaataaatc tcagctgggc acagtggctc acacctgtaa tcctagcact
     5281 ttgggaggcc aaggcaggcg gatcacttca gctcaggagt ttgagaccag cctgggcaac
     5341 ctggcgaatc cctatctcta caaaaaatac acaaattagc tgggtgtggt gacacacaca
     5401 tatagtccca gctaattagg gggctgaggt gggaagatca cttgagctcc aggaggtgga
     5461 ggctgcagtg agccaagttg gtgtcactgt actctagcct gggtggcaaa gtgagaccct
     5521 gtctcaatca atcaatcaat caatcaatca atatctcatg ctgtaattgt cttctgatgt
     5581 tttcatccac ccagccccac ctctgcagcc ttaattactg gagtaggtcc atgatttcag
     5641 tgtagggtta atgtattctg cagatcatct ttgatttgac ctgctttttt gcttcctttt
     5701 tatctctgaa caaaggagat catcattctc tttaatctgc cttctgtgta aatctctacc
     5761 agactggaag ctccctgaaa gcagaaactg tctgcttccc cagaacttag cactgtgctt
     5821 tcatgtatgt gggataaatt tttactttgt tagtgcaact ttgtttgtac acgttatcct
     5881 tgatattaca tacatttgtt gatgggggca atttatattt gttgtgagta aaatactttt
     5941 ttgttggatt aagaagaact atactcttcc cagcactttg ggaggccaag gaggacggat
     6001 tacctgaggt tagtagcttg agaccagcct gaccaacatg gagaaacccc atctctatta
     6061 aaactacaaa aaaattagct gtgcgttgtg gcacatgcct gtaatcccag ctagtcagga
     6121 ggctgaggca ggagaaccgc ttgaacccct gaggcagagg ttgcggttga gccgagatcg
     6181 cgccattgca ctccagcctg ggcaacaaga gttaaactcc atttcaaaaa aacaaaaaca
     6241 aaaacaaaaa caaaaaaaca aaagaagaac tactctgtag tgagagctag aatcctcatg
     6301 ttgtttattt aaaatttttg gccaagtaca gtggctcatg cctgtaatcc cagcactttg
     6361 ggaggctgag gccagaggat cacttgaagc caggagttca gttacagctt gggcagcaaa
     6421 gtgagacctt gtctctacaa aaaaattttt tttaaattag ccaggtgtgg tggtatgccc
     6481 ctgtagtccc agctactcag gaaaccgaag caggagaatc gcttgaacac aggagtttga
     6541 gggtgctatg agctatgatt gtgccactgc actccagcct gggcaacagg gcaaggccct
     6601 gtcttaataa aataaaataa aattcttaat atgtttatat atttgaaaaa ctatttgtgt
     6661 agagacacat gtctgtaaat acacatagat atattaactt tttaagcttt aattgaagcc
     6721 tttctcttca caggttttat atatttgact gcagatgact aacagattga attttaagag
     6781 tgcgaaacac tctggtgcta tagggaagga acttcataaa tagcccctcc tgtaagggac
     6841 cagtctttaa tttaaaacag tccagcccag gaatcttgca agaattttgt aattatttga
     6901 ggagagatgt agatataccc tggagttctt tgactttaag ttattctaga gtcatcccag
     6961 agatggccta gaagacttga atgtacccca aaggattctg aatccctttg ggaaatttag
     7021 actatgattt tcagtaagaa ttaaaagccc caggataagc gtggtggttc acacctgtaa
     7081 tcccagcaat ttgtgaggcc aaggcgggag gatcgcttga gctcaggagt tcgagaccag
     7141 cctaggcaac atagtgagac cccacccatc tcaatttaaa aaaagagaga aaaaggccag
     7201 gtgtagtggc tcacgcctgt aatcccagca ctttgggagg ccaaggcggg tggatcacct
     7261 gaggtcagga gttcaagacc agcctgatca atatggtgaa accccatctc tactaaaaat
     7321 acaaaaatta gccagtcctg atggcatgtg cctgtggtcc cagcgacttg ggaggctgag
     7381 acaggagaat tgcttgaacc cgggacgtgg aggttgcagt gagccgagat tgggccactg
     7441 cattccagcc tgggtgagag agcgagactc tgtctcaaaa aaaaaaaaga gagagagaga
     7501 gagagagaga gaaagcccca aacatacctt gggcctttac aacctacttg gtcccagaat
     7561 cgtcttattg taaacccaaa gccaggtctt ctggttcgaa ccagtcaaaa tgggtaatct
     7621 aaaaaagtta aatagatgat tcaaaatcgt gttggtggtt ttttcttttt aaatcccctt
     7681 tccaagtaaa aggaatcttt tttttttttt taagttttga agcctcatag ccataaatat
     7741 tttggcacca gcatctattg gcacctaagt cattggctgt atcatattcc catgggaccc
     7801 ttgttcctag aggaatgcag gaatgatctt ggagtgggaa ggacagaaac aggtgcttgc
     7861 aaaatcagat atttctgaaa ttctctgtta ttctatttct actgtctttc cccactttac
     7921 tataaatttg atctgttata aaatggctgt gtttagatag atacccgtga tgtttaggaa
     7981 acaaatgata tagagactcc catttaaatg aatcttatct ttataagaaa cagccaaact
     8041 gttttccaga ctggctatac catcttacat tcccaccagg aatgtatgag tgatccagtt
     8101 tctctgcatg ctcgccagca tttggtgttg tcactatttc ttatttcaac cattctgttt
     8161 atccttttca gtgaaatatc tgttcatatc ttttgcccat ttgccaattg aggcaggagg
     8221 atcacttgag cccaggagtt cgaggctgca gtgagatatg atcactaaat gtttgcttaa
     8281 tgagccatat ctttaaatat cttttttaaa gtttttaaaa gtcagtccag tggtttatgt
     8341 gattatgtgg gattttttaa atctttccag gcaaaatgtg tatagcattt tgaacatatt
     8401 tacactgtac tgagcccaag agttctcata ttctttcttt gctcattata gagtatggta
     8461 ctaatactgt ataatagtaa attttcaaag atacctttat ttagaatgtt agagtataca
     8521 gatatatact ttgtacatag ttatcataat gtttctaacc tttttattta aagcaggctg
     8581 atttgtgtaa aggtttcaga atgattttgt taataagtta ttagaaactt tcctatttgt
     8641 acaagatggt aaatgtagat tccaatttgt atgcctcagt aaattcataa tcttatttct
     8701 ctgatgtgag ccactgtgcc tggccttctg tgatgctctt aatgaatttt gcagttttat
     8761 taaattgtca ttgagaacct cataaatcat tgttaagatc tatacaaaaa atcaaggatc
     8821 cacagtaata gaatattttt catctgcata tgaatttttc ccttcccttt ttgtctactt
     8881 ttagatttaa aaaaaattac caggacattc ttattaaata ctattacctg ttttggtttc
     8941 tgcacattaa gaaagtcaca gagaagccag acacagtggc atgctcttct attcccagct
     9001 actcaggagg ctgaggctgg agaatcactt gagcccagga gtttgaggat atcctgggca
     9061 acatggtgaa acttggcaaa aacaaaaaca aggccgggca tggtggctca cacgtgtagt
     9121 cccagcactt tgggaggcca cggctggcgg atcacgaggt caggagatcg agaccatcct
     9181 ggctaacatg gtgaaaccct gtctctacta aaaatacaaa aaattagcca ggcgtggtgg
     9241 cgggtgcctg tactcccagc tactcgggag gctgaggcaa gagaatggca tgaacccagg
     9301 aggcggagct tgcagtgagc tgagatcgcg ccactgcact cctgcctggg tgacagagtg
     9361 agactccatc tcaaaaaaaa aaaacaaaaa caacaacaac aacaacaaaa aacaaccaga
     9421 gaaatagcac ttgttaacta caattgtgac tctaggtaaa cttgggcctt aatatggtta
     9481 gacaagaagg gttttaggta acttgccttt ttagatccta tttaggctta ttagtctata
     9541 ttctacattc ttgcacgatg gaaattacta gagaagtggg ataattcttt gttgtgggga
     9601 aaataaaatt tgttgtgaaa atatactgta ttttaaaata tttagaaaga ttataaataa
     9661 ctggagaaaa gataatttca tatactaata tgatggaatt agcctagcag atgttaaaaa
     9721 tcctttctga aaattataat ctaaaattat ttgggaaatt acaatggaac tgaataatct
     9781 gtacgttggt atattaaagc catttttata ttgtg
//
LOCUS       NM_001039548            2100 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens kelch like family member 35 (KLHL35), mRNA.
ACCESSION   NM_001039548
VERSION     NM_001039548.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2100)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2100)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2100)
  AUTHORS   Dhanoa BS, Cogliati T, Satish AG, Bruford EA and Friedman JS.
  TITLE     Update on the Kelch-like (KLHL) gene family
  JOURNAL   Hum Genomics 7 (1), 13 (2013)
   PUBMED   23676014
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.2030645.1,
            SRR14372080.3292940.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2154665,
            SAMN03465404 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000539798.3/ ENSP00000438526.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000744.4 and KF510381.1.
            On Feb 11, 2021 this sequence version replaced NM_001039548.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2100
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..2100
                     /gene="KLHL35"
                     /note="kelch like family member 35"
                     /db_xref="GeneID:283212"
                     /db_xref="HGNC:HGNC:26597"
     misc_feature    154..156
                     /gene="KLHL35"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MAR"
     CDS             163..1914
                     /gene="KLHL35"
                     /note="kelch-like 35"
                     /codon_start=1
                     /product="kelch-like protein 35"
                     /protein_id="NP_001034637.2"
                     /db_xref="CCDS:CCDS44685.2"
                     /db_xref="GeneID:283212"
                     /db_xref="HGNC:HGNC:26597"
                     /translation="MRQGHAPEESEPGCEAPCAGPCHAQRVLQALNAYRRSGTLTDVVL
                     RAGGRDFPCHRAALSAGSAYFRSLFAAGRPERGPAVVPVVPVAPEAPGTSPAGAAAALA
                     VVLDYVYGAGVRLRAEDEAAAVLALAERLGVAGLREACVRFLEGRLRAANSLALRRVAA
                     AFSLAPLAERCGRVLRQAFAEVARHADFLELAPDEVVALLADPALGVAREEAVFEAAMR
                     WVRHDAPARRGQLRRLLEHVRLPLLAPAYFLEKVEADELLQACGECRPLLLEARACFIL
                     GREAGALRTRPRRFMDLAEVIVVIGGCDRKGLLKLPFADAYHPESQRWTPLPSLPGYTR
                     SEFAACALRNDVYVSGGHINSHDVWMFSSHLHTWIKVASLHKGRWRHKMAVVQGQLFAV
                     GGFDGLRRLHSVERYDPFSNTWAAAAPLPEAVSSAAVASCAGKLFVIGGARQGGVNTDK
                     VQCFDPKEDRWSLRSPAPFSQRCLEAVSLEDTIYVMGGLMSKIFTYDPGTDVWGEAAVL
                     PSPVESCGVTVCDGKVHILGGRDDRGESTDKVFTFDPSSGQVEVQPSLQRCTSSHGCVT
                     IIQSLGR"
     misc_feature    1063..1212
                     /gene="KLHL35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PF15.3);
                     Region: Kelch 1"
     misc_feature    1216..1344
                     /gene="KLHL35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PF15.3);
                     Region: Kelch 2"
     misc_feature    1345..1485
                     /gene="KLHL35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PF15.3);
                     Region: Kelch 3"
     misc_feature    1489..1629
                     /gene="KLHL35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PF15.3);
                     Region: Kelch 4"
     misc_feature    1630..1755
                     /gene="KLHL35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PF15.3);
                     Region: Kelch 5"
     misc_feature    1759..1899
                     /gene="KLHL35"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PF15.3);
                     Region: Kelch 6"
     regulatory      2037..2042
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL35"
                     /note="hexamer: AATAAA"
     polyA_site      2064
                     /gene="KLHL35"
                     /note="major polyA site"
     polyA_site      2100
                     /gene="KLHL35"
                     /note="major polyA site"
ORIGIN
        1 gtcctcccgc agctgagccc gagcgaacag caaacgggag tctgggcaga gcagcatgaa
       61 cactggagct tgggctgcca ggggtgcggg cggcaggcac aaacgggagt gatacctgtg
      121 agagcagcag ctgcggagca cttgggagag ggtatggcca ggatgcggca aggccatgcg
      181 ccggaggagt cggagccggg ctgcgaagcg ccgtgcgcgg gtccgtgcca cgcgcagcgc
      241 gtgctgcagg ccctgaacgc ctaccggcgg agcggcaccc tcaccgacgt ggtgctgcgc
      301 gccggcgggc gcgactttcc gtgccaccgc gcggcgctca gcgcgggcag cgcctacttc
      361 cgcagcttgt tcgcggccgg gcggcccgag cgcggcccgg ccgtggtgcc agtggtgcca
      421 gtagctcccg aggcgccagg cacgagcccg gccggggcgg cggcggcgct ggccgtggtg
      481 ctcgactacg tgtacggagc gggcgtgcgg ctgcgcgcgg aggacgaggc ggcggccgtg
      541 ctggcgctgg cggagcggct gggcgtggcg ggcctgcgcg aggcctgcgt gcgctttctc
      601 gagggccgcc tgcgcgccgc caacagccta gcgctgcgcc gcgtggccgc cgccttctcg
      661 ctggccccgc tggccgagcg ctgcggccgc gtcctgcgtc aggccttcgc cgaggtggcg
      721 cgccacgccg acttcctgga gctggcgcct gacgaggtgg tggcgctgct ggcggacccc
      781 gcgctgggcg tggcgcgcga ggaggccgtg tttgaagcgg ccatgcgctg ggtgcgccac
      841 gacgcgccgg cccgccgcgg ccagctgcga cgcctgctgg agcacgtgcg cctgccgcta
      901 ctggcgcccg cttacttcct ggagaaggtg gaggcggacg agctgctgca ggcctgcggc
      961 gagtgccgcc cgctgctgct cgaggctcgc gcctgcttca tcctgggccg cgaggccggt
     1021 gcgctgcgga cccggccgcg gagattcatg gacctagctg aagtgatcgt ggtcatcggc
     1081 ggttgcgacc gcaaaggtct cctgaagctg cccttcgccg atgcctacca tccagagagc
     1141 cagcggtgga ccccactgcc cagcctgccc ggctacactc gctcagaatt cgccgcctgt
     1201 gctctccgca atgacgtcta cgtctccgga ggccacatca acagtcatga tgtgtggatg
     1261 tttagctccc atctgcacac ctggatcaag gtagcctctc tgcacaaggg caggtggagg
     1321 cacaagatgg cagttgtgca ggggcagctg ttcgcggtgg gtggcttcga cggcctgagg
     1381 cgcctgcaca gcgtggagcg ctacgacccc ttctccaaca cctgggcggc cgccgcgccc
     1441 ctcccggagg ccgtgagctc ggcggcggtg gcgtcctgcg cgggcaagct cttcgtgatt
     1501 gggggcgcca ggcagggcgg cgtcaacacg gacaaggtgc agtgctttga ccccaaggag
     1561 gaccggtgga gcctgcggtc accagcaccc ttctcacagc ggtgtctcga ggctgtctcc
     1621 cttgaggaca ccatctatgt catggggggt ctcatgagca aaatcttcac ctatgatcca
     1681 ggcacagatg tgtgggggga ggcagctgtc ctccccagcc ctgtggaaag ctgtggagtc
     1741 actgtgtgtg acgggaaggt ccacatcctt ggcgggcggg atgatcgcgg agaaagcacc
     1801 gataaggtct tcacctttga ccccagcagt gggcaggtgg aggtccagcc atccctgcag
     1861 cgctgcacca gctcccacgg ctgtgtcacc atcatccaga gcttgggcag gtgattcaga
     1921 tttggacagc ctgagccagg aggcggagag gcaggcggag ctcagatgca cactctgctc
     1981 cctcatggca cctccacgca aacagccctt aacttaatgg tcccttttct tgtataaata
     2041 aaatcttgtt gggtctgtgt tccagctgca gtctgccctg cctggagatg gaatgtctaa
//
LOCUS       NM_001039567             848 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens ribosomal protein S4 Y-linked 2 (RPS4Y2), mRNA.
ACCESSION   NM_001039567
VERSION     NM_001039567.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 848)
  AUTHORS   Yang H, Li Q, Zhang L, Zhu M, Niu J, Xue F, Yang L, Qu Q, Lao Y,
            Ding Z, Xiao C and Wang K.
  TITLE     LncPRYP4-3 serves as a novel diagnostic biomarker for dissecting
            subtypes of metabolic associated fatty liver disease by targeting
            RPS4Y2
  JOURNAL   Clin Exp Med 20 (4), 587-600 (2020)
   PUBMED   32494880
  REMARK    GeneRIF: LncPRYP4-3 serves as a novel diagnostic biomarker for
            dissecting subtypes of metabolic associated fatty liver disease by
            targeting RPS4Y2.
REFERENCE   2  (bases 1 to 848)
  AUTHORS   Ye J, Coulouris G, Zaretskaya I, Cutcutache I, Rozen S and Madden
            TL.
  TITLE     Primer-BLAST: a tool to design target-specific primers for
            polymerase chain reaction
  JOURNAL   BMC Bioinformatics 13, 134 (2012)
   PUBMED   22708584
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 848)
  AUTHORS   Lopes AM, Miguel RN, Sargent CA, Ellis PJ, Amorim A and Affara NA.
  TITLE     The human RPS4 paralogue on Yq11.223 encodes a structurally
            conserved ribosomal protein and is preferentially expressed during
            spermatogenesis
  JOURNAL   BMC Mol Biol 11, 33 (2010)
   PUBMED   20459660
  REMARK    GeneRIF: One of the Y-linked copies of the ribosomal protein S4 is
            expressed during spermatogenesis and germ cell development and the
            C-terminus of the protein has some degree of functional
            specialisation of this protein in spermatogenesis. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 848)
  AUTHORS   Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L,
            Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A,
            Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R,
            Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R,
            McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S,
            Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP,
            Waterston RH, Wilson RK, Rozen S and Page DC.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF497481.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000629237.2/ ENSP00000486252.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF497481.2.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001039567.2.
            Summary: The protein encoded by this gene is a ribosomal protein
            that is highly similar to RPS4Y1. This gene is located in the
            male-specific region of the Y chromosome. [provided by RefSeq, Aug
            2012].
FEATURES             Location/Qualifiers
     source          1..848
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.223"
     gene            1..848
                     /gene="RPS4Y2"
                     /gene_synonym="RPS4Y2P"
                     /note="ribosomal protein S4 Y-linked 2"
                     /db_xref="GeneID:140032"
                     /db_xref="HGNC:HGNC:18501"
                     /db_xref="MIM:400030"
     CDS             57..848
                     /gene="RPS4Y2"
                     /gene_synonym="RPS4Y2P"
                     /note="ribosomal protein S4, Y-linked 2 pseudogene; 40S
                     ribosomal protein S4, Y; small ribosomal subunit protein
                     eS4; small ribosomal subunit protein eS4, Y"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS4, Y isoform 2"
                     /protein_id="NP_001034656.1"
                     /db_xref="CCDS:CCDS44028.1"
                     /db_xref="GeneID:140032"
                     /db_xref="HGNC:HGNC:18501"
                     /db_xref="MIM:400030"
                     /translation="MARGPKKHLKRVAAPKHWMLDKLTGVFAPRPSTGPHKLRECLPLI
                     VFLRNRLKYALTGDEVKKICMQHFLKIDGKVRVDITYPAGFIDVISIEKTGEHFRLVYN
                     TKGCFAVHRITVEEAKYKLCKVRKITVGTKGIPHLVTHDARTIRYPDPLIKVNDTVQID
                     LGTGKITSFIKFDTGNVCMVIAGANLGRVGVITNRERHPGSCDVVHVKDANGNSFATRI
                     SNIFVIGNGNKPWISLPRGKGIRLTIAEERDKRLAAKQSSG"
ORIGIN
        1 gcagattacg gttgcaccgt aaaaggagag gttctgttcc gtcgcgggat ttcgccatgg
       61 cccggggccc caagaagcac ttgaagcgtg ttgcagcgcc gaagcattgg atgctggata
      121 aactaactgg tgtatttgca cctcgtccat cgacaggtcc tcacaagctg agggaatgtc
      181 ttcccctgat agtcttcctc aggaatagac tcaagtatgc attgactgga gatgaggtaa
      241 agaagatatg tatgcaacac ttcctcaaaa ttgatggcaa ggttcgagtg gacatcacat
      301 accctgctgg attcatagat gtcatcagca ttgagaaaac aggtgagcat ttccgcctgg
      361 tctataatac caagggctgt tttgctgttc atcgtatcac agtggaagag gcaaagtaca
      421 agttgtgcaa agtgaggaag attactgtgg ggacaaaggg aattccacac ctggtgactc
      481 atgatgctcg aaccattcgc tacccagatc ctctcatcaa ggtgaacgat actgtgcaga
      541 ttgatttagg gactgggaag ataaccagct ttatcaaatt tgacacaggc aatgtatgta
      601 tggtgattgc tggagctaac ctcggtcgtg ttggtgtgat cacaaacagg gaaagacatc
      661 ctggttcttg cgatgtggta catgtgaagg atgccaacgg caacagcttt gccacaagga
      721 tttccaacat ttttgtcatt ggcaatggta ataaaccttg gatttccctg cccaggggaa
      781 agggcatccg acttactatt gctgaagaga gagacaagag gctggctgcc aaacagagca
      841 gtggctaa
//
LOCUS       NM_001039569            3986 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens adaptor related protein complex 1 subunit sigma 3
            (AP1S3), transcript variant 1, mRNA.
ACCESSION   NM_001039569
VERSION     NM_001039569.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3986)
  AUTHORS   Ye T, Cheng Y and Li C.
  TITLE     Adaptor Protein Complex 1 Sigma 3 Is Highly Expressed in Glioma and
            Could Enhance Its Progression
  JOURNAL   Comput Math Methods Med 2021, 5086236 (2021)
   PUBMED   34367317
  REMARK    GeneRIF: Adaptor Protein Complex 1 Sigma 3 Is Highly Expressed in
            Glioma and Could Enhance Its Progression. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 3986)
  AUTHORS   Mahil SK, Twelves S, Farkas K, Setta-Kaffetzi N, Burden AD, Gach JE,
            Irvine AD, Kepiro L, Mockenhaupt M, Oon HH, Pinner J, Ranki A,
            Seyger MMB, Soler-Palacin P, Storan ER, Tan ES, Valeyrie-Allanore L,
            Young HS, Trembath RC, Choon SE, Szell M, Bata-Csorgo Z, Smith CH,
            Di Meglio P, Barker JN and Capon F.
  TITLE     AP1S3 Mutations Cause Skin Autoinflammation by Disrupting
            Keratinocyte Autophagy and Up-Regulating IL-36 Production
  JOURNAL   J Invest Dermatol 136 (11), 2251-2259 (2016)
   PUBMED   27388993
REFERENCE   3  (bases 1 to 3986)
  AUTHORS   Li X, Niu Y, Cheng M, Chi X, Liu X and Yang W.
  TITLE     AP1S3 is required for hepatitis C virus infection by stabilizing E2
            protein
  JOURNAL   Antiviral Res 131, 26-34 (2016)
   PUBMED   27079945
  REMARK    GeneRIF: study demonstrated that AP1S3 interacts with hepatitis C
            virus E2 and protects it from proteasome-dependent degradation
REFERENCE   4  (bases 1 to 3986)
  AUTHORS   Setta-Kaffetzi N, Simpson MA, Navarini AA, Patel VM, Lu HC, Allen
            MH, Duckworth M, Bachelez H, Burden AD, Choon SE, Griffiths CE,
            Kirby B, Kolios A, Seyger MM, Prins C, Smahi A, Trembath RC,
            Fraternali F, Smith CH, Barker JN and Capon F.
  TITLE     AP1S3 mutations are associated with pustular psoriasis and impaired
            Toll-like receptor 3 trafficking
  JOURNAL   Am J Hum Genet 94 (5), 790-797 (2014)
   PUBMED   24791904
  REMARK    GeneRIF: AP1S3 silencing disrupted the endosomal translocation of
            the innate pattern-recognition receptor TLR-3 (Toll-like receptor 3)
            and resulted in a marked inhibition of downstream signaling.
REFERENCE   5  (bases 1 to 3986)
  AUTHORS   Kim YA, Choi HJ, Lee JY, Han BG, Shin CS and Cho NH.
  TITLE     Replication of Caucasian loci associated with bone mineral density
            in Koreans
  JOURNAL   Osteoporos Int 24 (10), 2603-2610 (2013)
   PUBMED   23575750
REFERENCE   6  (bases 1 to 3986)
  AUTHORS   Hirst J, Lindsay MR and Robinson MS.
  TITLE     GGAs: roles of the different domains and comparison with AP-1 and
            clathrin
  JOURNAL   Mol Biol Cell 12 (11), 3573-3588 (2001)
   PUBMED   11694590
REFERENCE   7  (bases 1 to 3986)
  AUTHORS   Boehm M and Bonifacino JS.
  TITLE     Adaptins: the final recount
  JOURNAL   Mol Biol Cell 12 (10), 2907-2920 (2001)
   PUBMED   11598180
REFERENCE   8  (bases 1 to 3986)
  AUTHORS   Kirchhausen T.
  TITLE     Three ways to make a vesicle
  JOURNAL   Nat Rev Mol Cell Biol 1 (3), 187-198 (2000)
   PUBMED   11252894
  REMARK    Review article Erratum:[Nat Rev Mol Cell Biol 2001 Mar;2(3):216]
REFERENCE   9  (bases 1 to 3986)
  AUTHORS   Lippincott-Schwartz J, Roberts TH and Hirschberg K.
  TITLE     Secretory protein trafficking and organelle dynamics in living cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
REFERENCE   10  (bases 1 to 3986)
  AUTHORS   Kirchhausen T, Davis AC, Frucht S, Greco BO, Payne GS and Tubb B.
  TITLE     AP17 and AP19, the mammalian small chains of the clathrin-associated
            protein complexes show homology to Yap17p, their putative homolog in
            yeast
  JOURNAL   J Biol Chem 266 (17), 11153-11157 (1991)
   PUBMED   2040623
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK299026.1, SRR1163657.8576.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2156266
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396654.7/ ENSP00000379891.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG177582.1, BG340480.1,
            AC093884.4 and BE856458.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001039569.1.
            SUMMARY: This gene encodes a member of the adaptor-related protein
            complex 1, sigma subunit genes. The encoded protein is a component
            of adaptor protein complex 1 (AP-1), one of the AP complexes
            involved in claathrin-mediated vesicular transport from the Golgi
            or endosomes. Disruption of the pathway for display of HIV-1
            antigens, which prevents recognition of the virus by cytotoxic T
            cells, has been shown to involve the AP-1 complex (PMID: 15569716).
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2014].
            Transcript Variant: This variant (1) encodes the functional
            protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3986
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q36.1"
     gene            1..3986
                     /gene="AP1S3"
                     /gene_synonym="PSORS15; sigma1C"
                     /note="adaptor related protein complex 1 subunit sigma 3"
                     /db_xref="GeneID:130340"
                     /db_xref="HGNC:HGNC:18971"
                     /db_xref="MIM:615781"
     CDS             133..597
                     /gene="AP1S3"
                     /gene_synonym="PSORS15; sigma1C"
                     /note="sigma 1C subunit of AP-1 clathrin; adaptor protein
                     complex AP-1 sigma-1C subunit; golgi adaptor HA1/AP1
                     adaptin sigma-1C subunit; clathrin assembly protein complex
                     1 sigma-1C small chain; adaptor related protein complex 1
                     sigma 3 subunit; adapter-related protein complex 1 subunit
                     sigma-1C; adaptor-related protein complex 1 subunit
                     sigma-1C"
                     /codon_start=1
                     /product="AP-1 complex subunit sigma-3"
                     /protein_id="NP_001034658.1"
                     /db_xref="CCDS:CCDS42827.1"
                     /db_xref="GeneID:130340"
                     /db_xref="HGNC:HGNC:18971"
                     /db_xref="MIM:615781"
                     /translation="MIHFILLFSRQGKLRLQKWYITLPDKERKKITREIVQIILSRGHR
                     TSSFVDWKELKLVYKRYASLYFCCAIENQDNELLTLEIVHRYVELLDKYFGNVCELDII
                     FNFEKAYFILDEFIIGGEIQETSKKIAVKAIEDSDMLQETMEEYMNKPTF"
     regulatory      3955..3960
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP1S3"
                     /gene_synonym="PSORS15; sigma1C"
                     /note="hexamer: AATAAA"
     polyA_site      3986
                     /gene="AP1S3"
                     /gene_synonym="PSORS15; sigma1C"
                     /note="major polyA site"
ORIGIN
        1 attgtgggaa gcagccatgg tctaagccgg gcgcctcacc tgtcagccgc accggctcca
       61 gcgctcgcct ctcgccctcg cttctccagc gctccttgct cgcaaggcgg gggaggcggc
      121 ggcccagcca cgatgataca tttcatattg ctcttcagtc gacaagggaa attacggcta
      181 cagaaatggt acatcactct ccctgataaa gagaggaaga agatcacccg ggaaattgtt
      241 cagattattc tctcccgtgg tcacaggaca agcagttttg ttgactggaa ggagctaaaa
      301 cttgtttata aaaggtatgc tagtttatat ttttgctgtg caatagaaaa tcaggacaat
      361 gagctcttga cgctagagat tgtgcatcgt tacgtggagc tgctggacaa atattttgga
      421 aatgtctgtg agctggatat tatctttaat tttgaaaagg cttatttcat cctggacgag
      481 tttataatag gtggggaaat tcaggaaaca tccaagaaaa ttgctgtcaa agccattgaa
      541 gactctgata tgttacagga gacaatggaa gaatacatga acaagcctac attttaactg
      601 gaaatctact tgaagactcc agcactacat gttatgaagc tgtaaataag caacgcctcc
      661 catccggttt tttgatggag cctcaggcac catgccaaaa ataatttaaa gggattcttt
      721 gttaactaac aaagttaaag ttgtttaaca tatttataat tactatgtgt ctgtattatt
      781 aaaaaaaatt atgtgtctgt gttatactgt ataggtactt gtagctctaa atgtttaaag
      841 taactaccac ctaacccaac agacaatatt tgtaatgtat taactccatg ttatgttttt
      901 aagctggttt agatacatta gctgcaattt tttttgcatt tgacacaata ttgtaataat
      961 ccatgatttt gaatgtaaag tatatatgat gtcattaata ctttttctaa atgtttagtt
     1021 ttctaaattg tataataatt caaaattatg ttaatagtgc agagtttata tgtaatgcta
     1081 gacatttttc atacacttaa tagtactgta actgcaattc acatacaaaa tgtctgattt
     1141 taatgtgctg aattcattta ttttttttag aattgggatt atgaaaataa ccaaagagta
     1201 tagaacttaa taagtgtttt tgatgcctta gaagctgcta tcttgactga ggttttaatt
     1261 tatcttttaa ttgaatataa gggacattcc aataaggttt tctatgaact atatatttat
     1321 taaggtttat agagacctag agatacagca tctatgactt cctttattat tctaaaatag
     1381 tatgataaga attaatagca ataataatta ttgctactat tttttaaaat tcacgttcca
     1441 agcactctta gatgctggaa atttcatttc aaatatgttt taatgtatct ctaatgcatt
     1501 tgaagactta ttacatggct tacttagagc atttaagatt atcacagcct atatggtaga
     1561 ttcctttcct tcttttttct tttcttaccc tttcctcccc aaagaaaaga tttgctgctg
     1621 accattatta ctgtaagtat atcacatttg tgcttcctgg aatgaaaatt ctgtataacc
     1681 aggtcctaac agtgatcaga catattacag ggaaatagct tgtaggccgg gagtggtggc
     1741 ttacacctgt aatcccagca ctttgggagg ccgaggcagg tggatcactt gaggtcagga
     1801 gttcgagagc agcctggcca atatgatgaa accccatctc tactaaaaat acaaaaatta
     1861 ggccgggtac agtggctcat gcctataatt ccagcacttt gggaggcaga ggtgggcgga
     1921 tcacaaggtc aagagatcaa gaccatcctc gccaacaagg tgaaacccca cctctattaa
     1981 aaatacaaaa attagccggg agtggtggtg cgtgcctgta gtcccagcta cttgggaggc
     2041 tgaggcagga gaatcgcttg aacctgggag gcagaagttg cagtgagctg agattgtgcc
     2101 actgcactcc agcctgggcg acagagcgag acttcgtctc aaacaaacaa aaaaattagc
     2161 cgggcatggt ggcaggtgcc tgtaatccca gctactcagg gggctgaggc aggggaatgg
     2221 cttgaaccca ggaggcagag gttgcagtga gccaaggtca taccagtgca ctccaggcgg
     2281 gtgacagagc aagactgcgt ctcaagaaaa aaaaaaaaaa aaagaaaaag taaaagcttg
     2341 tagtattctg tcttgctgcc tgctatttga tgttttacct gtgcattttc aatgttagct
     2401 ttgaggtctg gtatcattca tattagagtg gtttgggacc tccagtgatt tcctagaaga
     2461 gtgtgtttcc tgttggattc tttaggagat cccatctggt agatttttag agaactcgat
     2521 ggaaaaatgt tctctttagt tcatctcagc agacatattt agggaaaaca gcaaagcaag
     2581 caggagaaca aagggaaaaa ttcaccaatt cctcaatata accattgttc aaaggaaata
     2641 actcagatta gcatataaaa taatcattag gcttttacta tccaatattt cttcaggtta
     2701 ccatgtaatt acaattatgg catcagcttg aagtttatca tgtatgattg accactgtgt
     2761 ttactttagc taaccttcag ttttgtggtt taacttttta atgtgttaga attttttctt
     2821 tctttttttc tttctttctt tcttttcttt ctttctttct tttccttcct ttcttccttc
     2881 cttcttctct ctctctcctt ccctcccttc cttccttccc ttcctccctc cctcctttct
     2941 ttctttcttt ttctcttttc ttttcttttc tttcttttct ttcctcgctt cttgtcaccc
     3001 aggccagagt gcaatggtgt gatctcaggt cactgcagcc tccgtctcct gggttcaaac
     3061 gattctcctg cctcagcctc ccgagtagct gggattatag gcatgcgcca ccacgcctgg
     3121 ctaattttgt atttttggta gagttgggat ttctccatgt tggtcaggct ggtcttgaac
     3181 gccgacctca ggtgatccgc ccgccttggc cttccaaagt gctggaatta caggcatgag
     3241 ccgctgcacc cggccaaatt ctttattttt caatacaatt ttgtaaagat ggacctcatg
     3301 taaatccatc atagtttttc cggttctttt gaaatttgtc accatatttg gataaaggta
     3361 tctcttgaac ctcattcaaa tatactacac atgttctgga taattccata ttagacactt
     3421 tagttatgga cagggcttct cagacttcaa tcagtgtcac acatagaaag taaatatatc
     3481 tcttctgggc aaggtggctc acgcctgtaa tcccagcact ttgggaggtc aaggcggcag
     3541 atcacctgag gtcaggagtt cgagaccagc ctggccaaca tggtgaaacc ctgtctctac
     3601 taaaaattca aaaattagcc aagtgtggtg gcacatgctt gtagtgccag ctactcagga
     3661 ggctgaggca ggagaatcgc ttgaacccgg gaggcagagg ttgcagtgag ctgagatcac
     3721 gccactgtac tccagcccgg gtgacagagt gagaccctgt ctcaaaaaaa aaaaaaaaaa
     3781 aatgaaagta agtaaacata tctatatggc acagtggggt aaatttgagg gattttaggg
     3841 acatcttcca tgggcctagg ctaaaatagt cattgtgttt tctttatatt atataattac
     3901 tataaaacta ccaagagaaa gacagtaaat gttaaatttc tataaaactt ccaaaataaa
     3961 atgttttaac atgttttaat gaggaa
//
LOCUS       NM_001039570            6181 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens kringle containing transmembrane protein 1 (KREMEN1),
            transcript variant 3, mRNA.
ACCESSION   NM_001039570
VERSION     NM_001039570.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6181)
  AUTHORS   Lee Y, Zhang H, Seymen F, Koruyucu M, Kasimoglu Y, Lee ZH, Hu JC,
            Simmer JP and Kim JW.
  TITLE     Novel homozygous KREMEN1 mutation causes ectodermal dysplasia
  JOURNAL   Oral Dis 28 (3), 843-845 (2022)
   PUBMED   34028942
  REMARK    GeneRIF: Novel homozygous KREMEN1 mutation causes ectodermal
            dysplasia.
REFERENCE   2  (bases 1 to 6181)
  AUTHORS   Hoffmann M and Pohlmann S.
  TITLE     Novel SARS-CoV-2 receptors: ASGR1 and KREMEN1
  JOURNAL   Cell Res 32 (1), 1-2 (2022)
   PUBMED   34903854
  REMARK    GeneRIF: Novel SARS-CoV-2 receptors: ASGR1 and KREMEN1.
REFERENCE   3  (bases 1 to 6181)
  AUTHORS   Gu Y, Cao J, Zhang X, Gao H, Wang Y, Wang J, He J, Jiang X, Zhang J,
            Shen G, Yang J, Zheng X, Hu G, Zhu Y, Du S, Zhu Y, Zhang R, Xu J,
            Lan F, Qu D, Xu G, Zhao Y, Gao D, Xie Y, Luo M and Lu Z.
  TITLE     Receptome profiling identifies KREMEN1 and ASGR1 as alternative
            functional receptors of SARS-CoV-2
  JOURNAL   Cell Res 32 (1), 24-37 (2022)
   PUBMED   34837059
  REMARK    GeneRIF: Receptome profiling identifies KREMEN1 and ASGR1 as
            alternative functional receptors of SARS-CoV-2. Erratum:[Cell Res.
            2022 Jun;32(6):600. PMID: 35365756]
REFERENCE   4  (bases 1 to 6181)
  AUTHORS   Lv L and Zhang L.
  TITLE     Host proviral and antiviral factors for SARS-CoV-2
  JOURNAL   Virus Genes 57 (6), 475-488 (2021)
   PUBMED   34510331
  REMARK    Review article
REFERENCE   5  (bases 1 to 6181)
  AUTHORS   Peng R, Wu LA, Wang Q, Qi J and Gao GF.
  TITLE     Cell entry by SARS-CoV-2
  JOURNAL   Trends Biochem Sci 46 (10), 848-860 (2021)
   PUBMED   34187722
  REMARK    Review article
REFERENCE   6  (bases 1 to 6181)
  AUTHORS   Wang K, Zhang Y, Li X, Chen L, Wang H, Wu J, Zheng J and Wu D.
  TITLE     Characterization of the Kremen-binding site on Dkk1 and elucidation
            of the role of Kremen in Dkk-mediated Wnt antagonism
  JOURNAL   J Biol Chem 283 (34), 23371-23375 (2008)
   PUBMED   18502762
  REMARK    GeneRIF: Kremen may not be essential for Dkk1-mediated Wnt
            antagonism and Kremen may only play a role when cells express a high
            level of LRP5/6
REFERENCE   7  (bases 1 to 6181)
  AUTHORS   Lopez JM, Balemans W, Piters E, Van Hul W and Gonzalez G.
  TITLE     Genetic analysis and effect of triiodothyronine and prednisone trial
            on bone turnover in a patient with craniotubular hyperostosis
  JOURNAL   Bone 43 (2), 405-409 (2008)
   PUBMED   18538647
REFERENCE   8  (bases 1 to 6181)
  AUTHORS   Binnerts ME, Kim KA, Bright JM, Patel SM, Tran K, Zhou M, Leung JM,
            Liu Y, Lomas WE 3rd, Dixon M, Hazell SA, Wagle M, Nie WS, Tomasevic
            N, Williams J, Zhan X, Levy MD, Funk WD and Abo A.
  TITLE     R-Spondin1 regulates Wnt signaling by inhibiting internalization of
            LRP6
  JOURNAL   Proc Natl Acad Sci U S A 104 (37), 14700-14705 (2007)
   PUBMED   17804805
REFERENCE   9  (bases 1 to 6181)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   10  (bases 1 to 6181)
  AUTHORS   Mao B, Wu W, Davidson G, Marhold J, Li M, Mechler BM, Delius H,
            Hoppe D, Stannek P, Walter C, Glinka A and Niehrs C.
  TITLE     Kremen proteins are Dickkopf receptors that regulate
            Wnt/beta-catenin signalling
  JOURNAL   Nature 417 (6889), 664-667 (2002)
   PUBMED   12050670
  REMARK    GeneRIF: Functional characterization of related Kremen proteins in
            mouse.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1181830.1,
            SRR14038196.2283349.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related         :: involved in SARS-CoV-2 infection
            MANE Ensembl match          :: ENST00000400335.9/ ENSP00000383189.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL021393.1 and Z95116.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001039570.2.
            Summary: This gene encodes a high-affinity dickkopf homolog 1
            (DKK1) transmembrane receptor that functionally cooperates with
            DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded
            protein is a component of a membrane complex that modulates
            canonical WNT signaling through lipoprotein receptor-related
            protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB
            domains. Mutations in this gene result in ectodermal dysplasia.
            This protein has also been found to be a functional receptor for
            Coxsackievirus A10 and may be an alternative entry receptor for
            SARS-CoV-2. [provided by RefSeq, Nov 2021].
            Transcript Variant: This variant (3) differs in the 3' UTR and 3'
            coding region, compared to variant 2. The resulting isoform has a
            distinct C-terminus and is shorter than isoform 2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6181
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.1"
     gene            1..6181
                     /gene="KREMEN1"
                     /gene_synonym="ECTD13; KREMEN; KRM1"
                     /note="kringle containing transmembrane protein 1"
                     /db_xref="GeneID:83999"
                     /db_xref="HGNC:HGNC:17550"
                     /db_xref="MIM:609898"
     misc_feature    88..90
                     /gene="KREMEN1"
                     /gene_synonym="ECTD13; KREMEN; KRM1"
                     /note="upstream in-frame stop codon"
     CDS             97..1473
                     /gene="KREMEN1"
                     /gene_synonym="ECTD13; KREMEN; KRM1"
                     /EC_number="2.3.2.27"
                     /note="isoform 3 precursor is encoded by transcript variant
                     3; kremen protein 1; kringle-coding gene marking the eye
                     and the nose; dickkopf receptor; kringle domain-containing
                     transmembrane protein 1; kringle-containing protein marking
                     the eye and the nose"
                     /codon_start=1
                     /product="kremen protein 1 isoform 3 precursor"
                     /protein_id="NP_001034659.2"
                     /db_xref="CCDS:CCDS43000.2"
                     /db_xref="GeneID:83999"
                     /db_xref="HGNC:HGNC:17550"
                     /db_xref="MIM:609898"
                     /translation="MAPPAARLALLSAAALTLAARPAPSPGLGPGPECFTANGADYRGT
                     QNWTALQGGKPCLFWNETFQHPYNTLKYPNGEGGLGEHNYCRNPDGDVSPWCYVAEHED
                     GVYWKYCEIPACQMPGNLGCYKDHGNPPPLTGTSKTSNKLTIQTCISFCRSQRFKFAGM
                     ESGYACFCGNNPDYWKYGEAASTECNSVCFGDHTQPCGGDGRIILFDTLVGACGGNYSA
                     MSSVVYSPDFPDTYATGRVCYWTIRVPGASHIHFSFPLFDIRDSADMVELLDGYTHRVL
                     ARFHGRSRPPLSFNVSLDFVILYFFSDRINQAQGFAVLYQAVKEELPQERPAVNQTVAE
                     VITEQANLSVSAARSSKVLYVITTSPSHPPQTVPGWTVYGLATLLILTVTAIVAKILLH
                     VTFKSHRVPASGDLRDCHQPGTSGEIWSIFYKPSTSISIFKKKLKGQSQQDDRNPLVSD
                     "
     sig_peptide     97..153
                     /gene="KREMEN1"
                     /gene_synonym="ECTD13; KREMEN; KRM1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     154..1470
                     /gene="KREMEN1"
                     /gene_synonym="ECTD13; KREMEN; KRM1"
                     /product="kremen protein 1 isoform 3"
     regulatory      6154..6159
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KREMEN1"
                     /gene_synonym="ECTD13; KREMEN; KRM1"
                     /note="hexamer: AATAAA"
     polyA_site      6181
                     /gene="KREMEN1"
                     /gene_synonym="ECTD13; KREMEN; KRM1"
                     /note="major polyA site"
ORIGIN
        1 actcgggccc cgcgtcctgc tcccatggcc gcccccggct ccccgcgctg ccccctttac
       61 cccgggccgc gccccggggc cccgcactga cggcccatgg cgccgccagc cgcccgcctc
      121 gccctgctct ccgccgcggc gctcacgctg gcggcccggc ccgcgcctag ccccggcctc
      181 ggccccggac ccgagtgttt cacagccaat ggtgcggatt ataggggaac acagaactgg
      241 acagcactac aaggcgggaa gccatgtctg ttttggaacg agactttcca gcatccatac
      301 aacactctga aataccccaa cggggagggg ggcctgggtg agcacaacta ttgcagaaat
      361 ccagatggag acgtgagccc ctggtgctat gtggcagagc acgaggatgg tgtctactgg
      421 aagtactgtg agatacctgc ttgccagatg cctggaaacc ttggctgcta caaggatcat
      481 ggaaacccac ctcctctaac tggcaccagt aaaacgtcca acaaactcac catacaaact
      541 tgcatcagtt tttgtcggag tcagaggttc aagtttgctg ggatggagtc aggctatgct
      601 tgcttctgtg gaaacaatcc tgattactgg aagtacgggg aggcagccag taccgaatgc
      661 aacagcgtct gcttcgggga tcacacccaa ccctgtggtg gcgatggcag gatcatcctc
      721 tttgatactc tcgtgggcgc ctgcggtggg aactactcag ccatgtcttc tgtggtctat
      781 tcccctgact tccccgacac ctatgccacg gggagggtct gctactggac catccgggtt
      841 ccgggggcct cccacatcca cttcagcttc cccctatttg acatcaggga ctcggcggac
      901 atggtggagc ttctggatgg ctacacccac cgtgtcctag cccgcttcca cgggaggagc
      961 cgcccacctc tgtccttcaa cgtctctctg gacttcgtca tcttgtattt cttctctgat
     1021 cgcatcaatc aggcccaggg atttgctgtt ttataccaag ccgtcaagga agaactgcca
     1081 caggagaggc ccgctgtcaa ccagacggtg gccgaggtga tcacggagca ggccaacctc
     1141 agtgtcagcg ctgcccggtc ctccaaagtc ctctatgtca tcaccaccag ccccagccac
     1201 ccacctcaga ctgtcccagg atggacagtc tatggtctgg caactctcct catcctcaca
     1261 gtcacagcca ttgtagcaaa gatacttctg cacgtcacat tcaaatccca tcgtgttcct
     1321 gcttcagggg accttaggga ttgtcatcaa ccagggactt cgggggaaat ctggagcatt
     1381 ttttacaagc cttccacttc aatttccatc tttaagaaga aactcaaggg tcagagtcaa
     1441 caagatgacc gcaatcccct tgtgagtgac taaaaacccc actgtgccta ggacttgagg
     1501 tccctctttg agctcaaggc tgccgtggtc aacctctcct gtggttcttc tctgacagac
     1561 tcttcccctc ctctccctct gcctcggcct cttcggggaa accctcctcc tacagactag
     1621 gaagaggcac cctgctgcca gggcaggcag agcctggatt cctcctgctt catcgattgc
     1681 acttaggaga gagactcaaa gccctggggc ccggccctct ctgcatctct ctctgatcta
     1741 gctagcagtg ggggtgtcag gacagtgagg ctgagatgac agaggtggtc atggctggca
     1801 cagggctcag gtacattcta gatggctgtc aggtggtggg tagctttagt tacattgaat
     1861 ttttcttgct tctctatttt tgtccacaca caaatcagtt tctcctgatc tttatgtctt
     1921 ggaacagggc cagacaggga gaactctcag gtactcttgg gagttggtcc catacaagtg
     1981 cggactcctg gacattagcg aggtgtaaag agggcagtgt ctgtgctgcc ccggcagctt
     2041 tgctctccag atgctggact agggtgggcc tccttcagcc tgggagggtc tgagaataag
     2101 atctagtgac ccccatttat atcaaacctg ataccttaca catgggcttc tttctagatt
     2161 cttctttcca tagctcatgg agctgcaggg aaagctttaa gagctttggt catataaaac
     2221 atccattcag ctgggcgcga tggctcatgc ctgtaatccc agcactgtgg gaggctgagg
     2281 cgggcagatc acctgaggtc aggagttcga gaccagcctg gccaacatgg tgaaaccccg
     2341 tctctactaa aaatataaaa attagtcagg cgtggtggca ggcgcctgta atcccagcta
     2401 ctcagaaggc tgagacagaa gaacagcttg aacccaggag gctgagattg cagtgagccg
     2461 agatcgcacc actgcactcc agcctgggtg acaagagtga gactctgtct caaaaaaaca
     2521 aaacacaaat aaacaaaaaa aatccattca tttactcatg caataaattc tcctgcaagc
     2581 ttttatgggc actcagtaag tactcaggat tggctttatc agccttgcca ctgagcagct
     2641 catggtccta tggaacctga gccaggcctc agtctctcca tgattggctc agctaactct
     2701 cagttcagag tggagagtat caatcttgtg tttttgccct taggcagcac tatatgagac
     2761 atggggcctg tggtccttcc ttctggtgtc ccccgtgtta aaagataaaa aacaccccaa
     2821 gggccgggcg cggtggctca tgcctgtaat cccagcactt tgggaggctg aggcgggtgg
     2881 atcacgaggt caggtgatcg aaaccatcct ggctaagatg gtgaaacccc gtctctacta
     2941 aaaatacaaa aaattagctg ggtgtggtgg tgggcgcctg tagtcccagc tgctcgggag
     3001 gctgaggcag gagaatggcg tgaacccggg aggcggagct tgcagtgagc agagatcacg
     3061 ccactgcact ccagcctggg tgacagtgca agactctgtc tcaaaaaaaa aaaaaacact
     3121 ccaagggcca tccgtgctct ctgcccctcc tgtggggacc aagtggggtt aggaatggct
     3181 cagtggggaa ggagagcact cttgtcccca gtcccttgcc accctgtccc ttagataggg
     3241 aggtgggctg cagagattgg tgccagaaga gggtgggttt gggaattgga gctcctccaa
     3301 ggagctcctc ctaagattga gtgctgcagc tgtagtggct gctggttggg agagtaagtg
     3361 ccatcactaa tttaaaagtc cttgccatct ggaatcaggc tttgtcaaca gcagctgaga
     3421 aaagcagcct gtgcctctgc tggccaggcc taggccctcg tcagagcgtg cctctccaca
     3481 aggcacttgg gcctgggtga ttgttgcgcc tctggctttg gcgtttcctc tttgcagcac
     3541 tttgcctacc tcccccaagc cctgagccac tgcctgctgg ggctcctact gaggttctgg
     3601 aaacacctct gcacctgccg cccctgggag gaaagagggc cacacaggaa gtgtctgcag
     3661 ggagaggtgg cactcggcag cctgagttca ggagaggtgc ttggagcttc aggcagaggg
     3721 gccttcagag gagggaaacg gagcaatgtg tcacaggcag gcaggggcag gactgccacc
     3781 ccaggccccg tgggaggcct gctgagggca cagagctgct cggtgcagcc ttcatgcttt
     3841 gatctggaaa gagcagctgt ccgcaggcct ctgtctccaa gaggcctgtc acacaggagg
     3901 accgctggaa acataccaac acgtgcagtc tcccctccaa gctattcatg ctgtttgtgg
     3961 aatctctctc aaacataagt gtcaggtgtg tgtcgtccca acgggtcctg tgctgtgaat
     4021 agatccatgt gcagcacaaa gggaatgtgg cacgtggccc caggaagagt tcacccggcc
     4081 agggggcagt tgttcagttg cctggggctg acactgacca ctggcctctg gggtgtcctg
     4141 cagcccaaat gcccaccttg ccctcctcac atctcagtca ggggaggcca tgcccaagcc
     4201 aatgtgctgt cacagcctgc agcgggggca gcacttcctc ggagggcctg ggaggtgctg
     4261 gggatgcccc agcgcttctc ttcctgcctc gccctggcat ggcccagcgc ctctaggatc
     4321 aacttacgat ccgtggagca gccccgggaa acccaaatct ggctcaggac agcgtacggg
     4381 caggagggct gtaaatcatc ccaggctaag cctccgtggg cactggctcc tgccgcagcc
     4441 tggctatgga ctcagttaga accaggtaga aagtcagcga caccccacag aaggccactg
     4501 cggctaggta aacacctgag aaagaaactg ctccagaaga gatgacgtgg gcttccagga
     4561 gcatggagga ggtggcactt gaacttttag gaaactcctt agatgagata aagtgggggt
     4621 tggaggtggc gaaaagaggg taaccctggg aaagtcagtc agaacccatg gcagaagact
     4681 gcaggagagg caggggaggg gcttcgggga ccactgtgga cagagctctg aaagcaccct
     4741 ggccaaagcc cctcctgagg tgacagagcg tgggaggagg ctgcactggg cctgcgtgcc
     4801 atcctcaccc ctgttccccg ctggcgccag gccctgcctt cttggtacct gtgccaacag
     4861 gagagccctc accagccgat cttgtcactc tccgtggtga cagtgtcttg gccagctgtg
     4921 gcccctagtt tctagcagcg tttctcagtg tccttggccc ttctgagaag gcaggcggga
     4981 ggcacacggt gccctgttct tccccgtttg tccagttgct tgcaaagcag agaatgagta
     5041 ggagtgaacc cgagtgactt cacccgccct gtcccccacg tcaggacagg cttgaggcct
     5101 ctctgggcgt gagcgaggaa accaggctgc tctaacttct gaagagtggg ctctggctca
     5161 agactccaat cggccagaag cccacagaga tcaaagcact agcaagttca gctgtcctgg
     5221 ccctcgggta gaacccacgg gcgtgcctgg gtgcggctcc acccacatgc cccactgtca
     5281 gcccaggcag gagccttcct ggccgggctc aggatctgcc tgcagcccag ccaggccatc
     5341 acccagcccc gatgcatcct ggcactgcac gcttactctt cacaagcact tatacgcgga
     5401 tggcctccga gaccctgcct ccctggtctg ctgaggtcag gccaggtctc ccacggagcc
     5461 gggcagctcc acaccccacc acctggcacc gttaggtttc agatctcccg tgtggtgttt
     5521 gatgtcggct tttgttccta ccttgggagt ttggattgtt tcctctggtg tctttgttta
     5581 ccttcctcac tgttctacct cctggccagg tctcagctta gcttccctgg tgtggggtgt
     5641 ttttcaagcc ttccagccac agctgtctcc cctcaggctg gacggctccg gggtgacagg
     5701 gcttcaccct ctgcctgcag acccctggtg ggcacatctc acaggcttcc gtcttgctga
     5761 gttgggtacg gaggcagaag tggggtgtgg aggaaagtca gagggaaatc tgcttcagaa
     5821 aggaagggtc tttagacaca aagactggag gcccttcccc gcccgcacgg gagctgccat
     5881 cgtgggtctc atgcacgtca agaccttccc acatccaaac tcagcttcca gcagggattt
     5941 tgactttgga tgacaaggct ttatttgtaa atatgctctt aatatgcaac tttgagaata
     6001 aaatagaaac atcatgtatt ttaaaatata agatgaagtg tgacgcactg tatacaattt
     6061 aatatatatt tttagggttt tgttatttaa gaaaatggaa tgtaatggta cttttacaaa
     6121 cgagaaaaaa tgttattttt actttctgga aaaaataaat attctcattg ttgtagaaag
     6181 a
//
LOCUS       NM_001039574            4139 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily C member 4
            (KCNC4), transcript variant 3, mRNA.
ACCESSION   NM_001039574
VERSION     NM_001039574.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4139)
  AUTHORS   Zemel BM, Zhi L, Brown EV, Tymanskyj SR, Liang Q and Covarrubias M.
  TITLE     PKCepsilon associates with the Kv3.4 channel to promote its
            expression in a kinase activity-dependent manner
  JOURNAL   FASEB J 35 (1), e21241 (2021)
   PUBMED   33368632
  REMARK    GeneRIF: PKCepsilon associates with the Kv3.4 channel to promote its
            expression in a kinase activity-dependent manner.
REFERENCE   2  (bases 1 to 4139)
  AUTHORS   Qian C, Dai Y, Xu X and Jiang Y.
  TITLE     HIF-1alpha Regulates Proliferation and Invasion of Oral Cancer Cells
            through Kv3.4 Channel
  JOURNAL   Ann Clin Lab Sci 49 (4), 457-467 (2019)
   PUBMED   31471334
  REMARK    GeneRIF: HIF-1alpha regulates the invasion, migration and
            proliferation of oral cancer cells by regulating Kv3.4 expression.
REFERENCE   3  (bases 1 to 4139)
  AUTHORS   Hartmann S, Zheng F, Kyncl MC, Karch S, Voelkl K, Zott B, D'Avanzo
            C, Lomoio S, Tesco G, Kim DY, Alzheimer C and Huth T.
  TITLE     beta-Secretase BACE1 Promotes Surface Expression and Function of
            Kv3.4 at Hippocampal Mossy Fiber Synapses
  JOURNAL   J Neurosci 38 (14), 3480-3494 (2018)
   PUBMED   29507146
REFERENCE   4  (bases 1 to 4139)
  AUTHORS   Fernandez-Valle A, Rodrigo JP, Garcia-Pedrero JM,
            Rodriguez-Santamarta T, Allonca E, Lequerica-Fernandez P and de
            Vicente JC.
  TITLE     Expression of the voltage-gated potassium channel Kv3.4 in oral
            leucoplakias and oral squamous cell carcinomas
  JOURNAL   Histopathology 69 (1), 91-98 (2016)
   PUBMED   26648458
  REMARK    GeneRIF: This study provides original evidence to demonstrate the
            early occurrence and high prevalence of abnormal Kv3.4 expression in
            oral leucoplakias. Our results support a role for Kv3.4 potassium
            channel in OSCC tumorigenesis rather than tumour progression and
            disease outcome.
REFERENCE   5  (bases 1 to 4139)
  AUTHORS   Ritter DM, Zemel BM, Hala TJ, O'Leary ME, Lepore AC and Covarrubias
            M.
  TITLE     Dysregulation of Kv3.4 channels in dorsal root ganglia following
            spinal cord injury
  JOURNAL   J Neurosci 35 (3), 1260-1273 (2015)
   PUBMED   25609640
  REMARK    GeneRIF: These results suggest a novel peripheral mechanism of
            post-spinal cord injury pain sensitization implicating Kv3.4 channel
            dysregulation and potential Kv3.4-based therapeutic interventions.
REFERENCE   6  (bases 1 to 4139)
  AUTHORS   Angulo E, Noe V, Casado V, Mallol J, Gomez-Isla T, Lluis C, Ferrer
            I, Ciudad CJ and Franco R.
  TITLE     Up-regulation of the Kv3.4 potassium channel subunit in early stages
            of Alzheimer's disease
  JOURNAL   J Neurochem 91 (3), 547-557 (2004)
   PUBMED   15485486
  REMARK    GeneRIF: Kv3.4 was overexpressed in early stages of Alzheimer
            disease and in advanced stages was present at high levels in
            neurodegenerative structures. This subunit regulates
            delayed-rectifier currents, primary determinants of spike
            repolarization in neurones
REFERENCE   7  (bases 1 to 4139)
  AUTHORS   Beck EJ, Sorensen RG, Slater SJ and Covarrubias M.
  TITLE     Interactions between multiple phosphorylation sites in the
            inactivation particle of a K+ channel. Insights into the molecular
            mechanism of protein kinase C action
  JOURNAL   J Gen Physiol 112 (1), 71-84 (1998)
   PUBMED   9649584
REFERENCE   8  (bases 1 to 4139)
  AUTHORS   Covarrubias M, Wei A, Salkoff L and Vyas TB.
  TITLE     Elimination of rapid potassium channel inactivation by
            phosphorylation of the inactivation gate
  JOURNAL   Neuron 13 (6), 1403-1412 (1994)
   PUBMED   7993631
REFERENCE   9  (bases 1 to 4139)
  AUTHORS   Ghanshani S, Pak M, McPherson JD, Strong M, Dethlefs B, Wasmuth JJ,
            Salkoff L, Gutman GA and Chandy KG.
  TITLE     Genomic organization, nucleotide sequence, and cellular distribution
            of a Shaw-related potassium channel gene, Kv3.3, and mapping of
            Kv3.3 and Kv3.4 to human chromosomes 19 and 1
  JOURNAL   Genomics 12 (2), 190-196 (1992)
   PUBMED   1740329
REFERENCE   10  (bases 1 to 4139)
  AUTHORS   Rudy B, Sen K, Vega-Saenz de Miera E, Lau D, Ried T and Ward DC.
  TITLE     Cloning of a human cDNA expressing a high voltage-activating,
            TEA-sensitive, type-A K+ channel which maps to chromosome 1 band p21
  JOURNAL   J Neurosci Res 29 (3), 401-412 (1991)
   PUBMED   1920536
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.155210.1,
            SRR1803617.119651.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000438661.3/ ENSP00000393655.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL137790.4, DA404087.1,
            DA111555.1, AK310193.1, CK823243.1, BX098184.1 and BC025377.1.
            On Jun 2, 2019 this sequence version replaced NM_001039574.2.
            Summary: The Shaker gene family of Drosophila encodes components of
            voltage-gated potassium channels and is comprised of four
            subfamilies. Based on sequence similarity, this gene is similar to
            the Shaw subfamily. The protein encoded by this gene belongs to the
            delayed rectifier class of channel proteins and is an integral
            membrane protein that mediates the voltage-dependent potassium ion
            permeability of excitable membranes. It generates atypical
            voltage-dependent transient current that may be important for
            neuronal excitability. Multiple transcript variants have been found
            for this gene. [provided by RefSeq, Jul 2010].
            Transcript Variant: This variant (3) uses an alternate splice site
            that results in a frameshift in the 3' coding region, compared to
            variant 1. The encoded isoform (c) has a shorter and distinct
            C-terminus, compared to isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4139
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..4139
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="potassium voltage-gated channel subfamily C member
                     4"
                     /db_xref="GeneID:3749"
                     /db_xref="HGNC:HGNC:6236"
                     /db_xref="MIM:176265"
     misc_feature    1115..1117
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="upstream in-frame stop codon"
     CDS             1187..3067
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="isoform c is encoded by transcript variant 3;
                     voltage-gated potassium channel subunit KV3.4; K+ channel
                     subunit; potassium voltage-gated channel, Shaw-related
                     subfamily, member 4; potassium channel, voltage gated Shaw
                     related subfamily C, member 4"
                     /codon_start=1
                     /product="potassium voltage-gated channel subfamily C
                     member 4 isoform c"
                     /protein_id="NP_001034663.1"
                     /db_xref="CCDS:CCDS44193.1"
                     /db_xref="GeneID:3749"
                     /db_xref="HGNC:HGNC:6236"
                     /db_xref="MIM:176265"
                     /translation="MISSVCVSSYRGRKSGNKPPSKTCLKEEMAKGEASEKIIINVGGT
                     RHETYRSTLRTLPGTRLAWLADPDGGGRPETDGGGVGSSGSSGGGGCEFFFDRHPGVFA
                     YVLNYYRTGKLHCPADVCGPLFEEELTFWGIDETDVEPCCWMTYRQHRDAEEALDIFES
                     PDGGGSGAGPSDEAGDDERELALQRLGPHEGGAGHGAGSGGCRGWQPRMWALFEDPYSS
                     RAARVVAFASLFFILVSITTFCLETHEAFNIDRNVTEILRVGNITSVHFRREVETEPIL
                     TYIEGVCVLWFTLEFLVRIVCCPDTLDFVKNLLNIIDFVAILPFYLEVGLSGLSSKAAR
                     DVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMI
                     YYAERIGARPSDPRGNDHTDFKNIPIGFWWAVVTMTTLGYGDMYPKTWSGMLVGALCAL
                     AGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKRKKHVPRPAQLESPMYCKSEETSPRD
                     STCSDTSPPAREEGMIERKRADSKQNGDANAVLSDEEGAGLTQPLASSPTPEERRALRR
                     STTRDRNKKAAACFLLSTGDYACADGSVRKETCQDALSSNYAQAEVLTLS"
     misc_feature    1187..1270
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03721.2);
                     Region: Inactivation gate"
     misc_feature    1187..1258
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03721.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1208..1210
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:9649584;
                     propagated from UniProtKB/Swiss-Prot (Q03721.2);
                     phosphorylation site"
     misc_feature    1211..1213
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:9649584;
                     propagated from UniProtKB/Swiss-Prot (Q03721.2);
                     phosphorylation site"
     misc_feature    1229..1231
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:7993631;
                     propagated from UniProtKB/Swiss-Prot (Q03721.2);
                     phosphorylation site"
     misc_feature    1247..1249
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="Phosphoserine. /evidence=ECO:0000269|PubMed:7993631;
                     propagated from UniProtKB/Swiss-Prot (Q03721.2);
                     phosphorylation site"
     misc_feature    1664..1726
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03721.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1865..1927
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03721.2);
                     transmembrane region"
     misc_feature    1952..1954
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q03721.2); glycosylation site"
     misc_feature    1979..1981
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q03721.2); glycosylation site"
     misc_feature    2018..2080
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03721.2);
                     transmembrane region"
     misc_feature    2123..2185
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03721.2);
                     transmembrane region"
     misc_feature    2219..2278
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03721.2);
                     transmembrane region"
     misc_feature    2327..2389
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03721.2);
                     transmembrane region"
     misc_feature    2492..2509
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03721.2);
                     Region: Selectivity filter. /evidence=ECO:0000250"
     misc_feature    2540..2602
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03721.2);
                     transmembrane region"
     misc_feature    2654..2926
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q03721.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4099..4104
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="hexamer: AATAAA"
     polyA_site      4139
                     /gene="KCNC4"
                     /gene_synonym="C1orf30; HKSHIIIC; KSHIIIC; KV3.4"
                     /note="major polyA site"
ORIGIN
        1 actggggcgt ggcggccgct gccagcgccg gagggagacc atgagcccct agggccccag
       61 cccaccggcg ccgaggcgcc ccctccccta tgccacctcg cgcccgcccc ctgccgcgcg
      121 cgagccaagg ccggcgcccc gcccggagat gggcagacgc gtagatggcg tggctcccag
      181 cgccgccaga tcgcaggaac caggcgccgg ggcgttgcgc tgaggctccc tctccgcgcg
      241 gcccgggaag cctgcaggtg tccttggccg ctcggccgcc gcccccggta caccttcgcc
      301 agtgcccaga gcccggctcc ccagagcggc cccgcccccc aggctcggcg ccgcgcagga
      361 cgccccgtct gaggcacccc cgccccagcg cggcccccgc agcgctgcgc ccggtccggc
      421 gcagctccca gccgcggacg caggacccga ggctcgctcc tgcgggcgcg cttgttttcc
      481 agctgccgcc tcgccctgcg cagcccccgc ccgcccggcc gccgctctct gctctgcccc
      541 gcctgccttc ctcgcccggc gctggattta tgaatggggg gaagaggcca catgccgccg
      601 ccgccgcctc gtgttgaccg caagcagccc gggcccacgg agctccggct gccgtgagag
      661 tgtcggcctg gccccggcag ccgctcggag gacttgttgc tgctgcgctg ccgccgctgc
      721 ggggaagccg gctattccgg ggcttggtgc ggtcttggag ccggagggtg gcccgtgtga
      781 gcgcgagcgc cccggacctt cgcggtgcgc gtggactgtg cgcttcctcg tctttggtcg
      841 gggtgaaggc gggggcgtgt ccccggccca gagcgtttgt gtgtcccgtc gtagcggggg
      901 accgcgtgtg tgcttgcttc tacttccccg ggtcctccct ctctgcgcct ccctctctcc
      961 ggagcttcct gccctaaccc caaccacctg tgtaccggag aaatccaact cctcccgctc
     1021 cgcgtcctag ggggataggc aggggcaagc ccaagccgca gagggggccg ccaccgcctc
     1081 ctgcctcctc ttcgtctcct ccccctcccc cgtctgacgc tgcctcctcg ggaagggtgt
     1141 ttggagggca gcggccgccc caagccggag ccccgcagcg cttcttatga tcagctcggt
     1201 gtgtgtctcc tcctaccgcg ggcgcaagtc ggggaacaag cctccgtcca aaacatgtct
     1261 gaaggaggag atggccaagg gcgaggcgtc ggagaagatc atcatcaacg tgggcggcac
     1321 gcgacatgag acctaccgca gcaccctgcg caccctaccg ggaacccgcc tcgcctggct
     1381 ggccgacccc gacggcgggg gccggcccga gaccgatggc ggcggtgtgg gtagcagcgg
     1441 cagcagcggc ggcgggggct gcgagttctt cttcgacagg cacccgggcg tcttcgccta
     1501 cgtgctcaac tactaccgca ccggcaagct gcactgcccc gcggacgtgt gcgggccgct
     1561 cttcgaagag gagctcacct tctggggcat cgacgagacc gacgtggaac cctgctgctg
     1621 gatgacctac cggcagcacc gcgacgccga ggaggcgctc gacatcttcg agagcccgga
     1681 cggaggcggc agcggcgcgg ggcccagcga cgaggccggc gacgatgagc gggagctggc
     1741 cctgcagcga ctgggccccc acgagggagg cgcgggccat ggcgccgggt ctgggggctg
     1801 ccgcggctgg cagccccgca tgtgggcgct cttcgaggat ccctactcct cccgggccgc
     1861 tagggtagtg gcctttgcct ctctcttctt catcctggtc tccatcacca ctttctgcct
     1921 ggagacccat gaggccttta atatcgaccg caacgtgaca gagatcctcc gcgtagggaa
     1981 catcaccagc gtgcacttcc ggcgggaggt agagacagag cccatcctga cctacatcga
     2041 gggcgtatgt gtgctgtggt tcacactgga gttcctggtg cgcatcgtgt gctgccccga
     2101 cacgctggac ttcgtcaaga acctgctcaa catcatcgac tttgtggcca tcctgccctt
     2161 ctacctggag gtggggctga gcggcctgtc atccaaggcg gcccgcgacg tgctgggctt
     2221 cctgcgcgtg gtgcgcttcg tgcgcatcct gcgtatcttc aagctcacac gccacttcgt
     2281 ggggctacgc gtgctgggcc acaccctgag ggccagcacc aatgagttcc tgctgcttat
     2341 catcttcctg gccctgggtg tgctcatctt tgccaccatg atctactacg ctgagcgcat
     2401 tggggccagg ccctccgacc ctcggggtaa tgaccacacc gacttcaaga acatccccat
     2461 tggcttctgg tgggctgtgg tcaccatgac gacactgggc tacggagaca tgtaccccaa
     2521 gacgtggtca ggcatgctgg taggggcact gtgtgcactg gctggcgtgc tcaccatcgc
     2581 catgccggtg cctgtcatcg tcaacaactt cggcatgtac tactccctgg ccatggccaa
     2641 gcagaagctg cccaagaaac ggaagaagca cgtgccacgg ccggcgcagc tggagtcacc
     2701 catgtactgc aagtctgagg agacttcccc ccgggacagc acctgcagtg ataccagccc
     2761 ccctgcccgg gaagagggta tgatcgagag gaaacgggca gactctaagc agaatggcga
     2821 tgccaacgca gtgctgtctg atgaggaggg agctggcctc acccaacccc tggcctcctc
     2881 cccgaccccc gaggagcgcc gggccctgcg acgctccacc actcgagaca gaaacaagaa
     2941 ggcagctgcc tgcttcctgc tcagcactgg ggactatgcc tgcgccgatg gtagtgtccg
     3001 gaaagagacc tgccaagacg ccctctcgtc caactatgcc caggctgaag tcctcaccct
     3061 ctcttaaagc ggcaccaacg tgagagagac aggcagacag acagaaagcc agaggcttag
     3121 ggaaactctg gaacccagac aagaatcttt tcgctgggaa agactcagat atccttgttt
     3181 gcacaggact ggtggaaaat ctcccatgcg accctcgggg cccagagcca tctgggtctg
     3241 atgttctgtt ccattgtaca tcgaagagat atatatgcac atatagtatc tatattcata
     3301 catattatac tcttgtgtgt agtgcacgtg ctattggtgg tttgtcttct ttgttaggct
     3361 gtgtctccct aagcccttgc cccacccaga gtttcccgtc cccttcactg atttctgttg
     3421 tttctgctga ctgtgtgggt ggaatgtccc aagaaaagtg catctgggaa ttgccagtcc
     3481 agctgggtag tcccaggctc ctgtcttggg gatgtttccc ctgtcagcaa gtaacctggt
     3541 gaagtctatt gaaggccaga ctgcccccta gggtcactgc ttcactagcc gcaccccacc
     3601 ccagattggg gttctacctc ccaccccaca tcctcgttgt ggggggactt ccaggggctc
     3661 ctctgcagcc tcctccacta cttcctccac cccatctatg tccttgactt aggggggcat
     3721 tttgtctttt ttagatttga ttttgttctc tctcctttgt ctgtttgttg tcaaagatgc
     3781 tgctgggcag acaggcaggg aaaggatctg tctgcccatc tggcccaggg ggtccgagaa
     3841 gggaagcctt gggcaagagg agaccagttg caatactgta cttcctggtc agtggccaga
     3901 ggatgcgtgc aatagcagag gccaggtgac cccttcagcc ttggcctctg cccctccctt
     3961 ggccctccct ccctgctcct ccctggtgtt ggtcagtcct tttctaaagc tgtcccctcg
     4021 tgtgtgtctg gggcatgccc aggctgggcc ctgtgccctg tctgcatgcc tccaactgtc
     4081 atgctgtgct cgagccccaa taaagacatc tggagcatcc tgctgctcct gctgtgtga
//
LOCUS       NM_001039580            7328 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens microtubule associated protein 9 (MAP9), mRNA.
ACCESSION   NM_001039580
VERSION     NM_001039580.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7328)
  AUTHORS   Xiao H, Sun J, Huang W, Liu W, Zhang Y, Wang H and Luo B.
  TITLE     Expression of MAP9 in Epstein-Barr virus-associated gastric
            carcinoma
  JOURNAL   Virus Res 293, 198253 (2021)
   PUBMED   33309912
  REMARK    GeneRIF: Expression of MAP9 in Epstein-Barr virus-associated gastric
            carcinoma.
REFERENCE   2  (bases 1 to 7328)
  AUTHORS   Mok EHK, Leung CON and Lee TKW.
  TITLE     MAP9/ERCC3 signaling cascade: A new insight on understanding the
            chromosomal instability in hepatocellular carcinoma
  JOURNAL   EBioMedicine 54, 102709 (2020)
   PUBMED   32268270
  REMARK    GeneRIF: MAP9/ERCC3 signaling cascade: A new insight on
            understanding the chromosomal instability in hepatocellular
            carcinoma.
REFERENCE   3  (bases 1 to 7328)
  AUTHORS   Zhang J, Huang JZ, Zhang YQ, Zhang X, Zhao LY, Li CG, Zhou YF, Wei H
            and Yu J.
  TITLE     Microtubule associated protein 9 inhibits liver tumorigenesis by
            suppressing ERCC3
  JOURNAL   EBioMedicine 53, 102701 (2020)
   PUBMED   32151798
  REMARK    GeneRIF: Microtubule associated protein 9 inhibits liver
            tumorigenesis by suppressing ERCC3.
REFERENCE   4  (bases 1 to 7328)
  AUTHORS   Wang S, Huang J, Li C, Zhao L, Wong CC, Zhai J, Zhou Y, Deng W, Zeng
            Y, Gao S, Zhang Y, Wang G, Guan XY, Wei H, Wong SH, He HH, Shay JW
            and Yu J.
  TITLE     MAP9 Loss Triggers Chromosomal Instability, Initiates Colorectal
            Tumorigenesis, and Is Associated with Poor Survival of Patients with
            Colorectal Cancer
  JOURNAL   Clin Cancer Res 26 (3), 746-757 (2020)
   PUBMED   31662330
  REMARK    GeneRIF: MAP9 Loss Triggers Chromosomal Instability, Initiates
            Colorectal Tumorigenesis, and Is Associated with Poor Survival of
            Patients with Colorectal Cancer.
REFERENCE   5  (bases 1 to 7328)
  AUTHORS   Kong Y, Nie ZK, Li F, Guo HM, Yang XL and Ding SF.
  TITLE     MiR-320a was highly expressed in postmenopausal osteoporosis and
            acts as a negative regulator in MC3T3E1 cells by reducing MAP9 and
            inhibiting PI3K/AKT signaling pathway
  JOURNAL   Exp Mol Pathol 110, 104282 (2019)
   PUBMED   31301305
  REMARK    GeneRIF: Data suggest miR-320a/microtubule-associated protein 9
            (MAP9) as promising targets for the treatment and prevention of
            postmenopausal osteoporosis (PMO).
REFERENCE   6  (bases 1 to 7328)
  AUTHORS   Rouquier S, Pillaire MJ, Cazaux C and Giorgi D.
  TITLE     Expression of the microtubule-associated protein MAP9/ASAP and its
            partners AURKA and PLK1 in colorectal and breast cancers
  JOURNAL   Dis Markers 2014, 798170 (2014)
   PUBMED   24876664
  REMARK    GeneRIF: MAP9 downregulation is associated with colorectal
            malignancy.
REFERENCE   7  (bases 1 to 7328)
  AUTHORS   Basbous J, Knani D, Bonneaud N, Giorgi D, Brondello JM and Rouquier
            S.
  TITLE     Induction of ASAP (MAP9) contributes to p53 stabilization in
            response to DNA damage
  JOURNAL   Cell Cycle 11 (12), 2380-2390 (2012)
   PUBMED   22672907
  REMARK    GeneRIF: ASAP stabilizes p53 both by alleviating MDM2-mediated p53
            ubiquitination and by enhancing its p300-dependent acetylation.
REFERENCE   8  (bases 1 to 7328)
  AUTHORS   Eot-Houllier G, Venoux M, Vidal-Eychenie S, Hoang MT, Giorgi D and
            Rouquier S.
  TITLE     Plk1 regulates both ASAP localization and its role in spindle pole
            integrity
  JOURNAL   J Biol Chem 285 (38), 29556-29568 (2010)
   PUBMED   20615875
  REMARK    GeneRIF: Results highlight dual ASAP regulation by Plk1 and further
            confirm the importance of ASAP for spindle pole organization,
            bipolar spindle assembly, and mitosis.
REFERENCE   9  (bases 1 to 7328)
  AUTHORS   Venoux M, Basbous J, Berthenet C, Prigent C, Fernandez A, Lamb NJ
            and Rouquier S.
  TITLE     ASAP is a novel substrate of the oncogenic mitotic kinase Aurora-A:
            phosphorylation on Ser625 is essential to spindle formation and
            mitosis
  JOURNAL   Hum Mol Genet 17 (2), 215-224 (2008)
   PUBMED   17925329
  REMARK    GeneRIF: Study demonstrates that AurA-mediated phosphorylation of
            ASAP is essential to spindle formation and mitosis.
REFERENCE   10  (bases 1 to 7328)
  AUTHORS   Saffin JM, Venoux M, Prigent C, Espeut J, Poulat F, Giorgi D, Abrieu
            A and Rouquier S.
  TITLE     ASAP, a human microtubule-associated protein required for bipolar
            spindle assembly and cytokinesis
  JOURNAL   Proc Natl Acad Sci U S A 102 (32), 11302-11307 (2005)
   PUBMED   16049101
  REMARK    GeneRIF: ASAP is a human microtubule-associated protein required for
            bipolar spindle assembly and cytokinesis.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC146864.1, AY690636.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000311277.9/ ENSP00000310593.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY690636.1, BC022852.1, CF144347.1 and AC097467.1.
            On Nov 23, 2018 this sequence version replaced NM_001039580.1.
            Summary: ASAP is a microtubule-associated protein required for
            spindle function, mitotic progression, and cytokinesis (Saffin et
            al., 2005 [PubMed 16049101]).[supplied by OMIM, Mar 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7328
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.1"
     gene            1..7328
                     /gene="MAP9"
                     /gene_synonym="ASAP"
                     /note="microtubule associated protein 9"
                     /db_xref="GeneID:79884"
                     /db_xref="HGNC:HGNC:26118"
                     /db_xref="MIM:610070"
     misc_feature    224..226
                     /gene="MAP9"
                     /gene_synonym="ASAP"
                     /note="upstream in-frame stop codon"
     CDS             260..2203
                     /gene="MAP9"
                     /gene_synonym="ASAP"
                     /note="aster-associated protein"
                     /codon_start=1
                     /product="microtubule-associated protein 9"
                     /protein_id="NP_001034669.1"
                     /db_xref="CCDS:CCDS35493.1"
                     /db_xref="GeneID:79884"
                     /db_xref="HGNC:HGNC:26118"
                     /db_xref="MIM:610070"
                     /translation="MSDEVFSTTLAYTKSPKVTKRTTFQDELIRAITARSARQRSSEYS
                     DDFDSDEIVSLGDFSDTSADENSVNKKMNDFHISDDEEKNPSKLLFLKTNKSNGNITKD
                     EPVCAIKNEEEMAPDGCEDIVVKSFSESQNKDEEFEKDKIKMKPKPRILSIKSTSSAEN
                     NSLDTDDHFKPSPRPRSMLKKKSHMEEKDGLEDKETALSEELELHSAPSSLPTPNGIQL
                     EAEKKAFSENLDPEDSCLTSLASSSLKQILGDSFSPGSEGNASGKDPNEEITENHNSLK
                     SDENKENSFSADHVTTAVEKSKESQVTADDLEEEKAKAELIMDDDRTVDPLLSKSQSIL
                     ISTSATASSKKTIEDRNIKNKKSTNNRASSASARLMTSEFLKKSSSKRRTPSTTTSSHY
                     LGTLKVLDQKPSQKQSIEPDRADNIRAAVYQEWLEKKNVYLHEMHRIKRIESENLRIQN
                     EQKKAAKREEALASFEAWKAMKEKEAKKIAAKKRLEEKNKKKTEEENAARKGEALQAFE
                     KWKEKKMEYLKEKNRKEREYERAKKQKEEETVAEKKKDNLTAVEKWNEKKEAFFKQKEK
                     EKINEKRKEELKRAEKKDKDKQAINEYEKWLENKEKQERIERKQKKRHSFLESEALPPW
                     SPPSRTVFAKVF"
     misc_feature    263..265
                     /gene="MAP9"
                     /gene_synonym="ASAP"
                     /note="N-acetylserine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q49MG5.3); acetylation site"
     misc_feature    293..295
                     /gene="MAP9"
                     /gene_synonym="ASAP"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q49MG5.3); phosphorylation site"
     misc_feature    638..1228
                     /gene="MAP9"
                     /gene_synonym="ASAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49MG5.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1289..1522
                     /gene="MAP9"
                     /gene_synonym="ASAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49MG5.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1730..1801
                     /gene="MAP9"
                     /gene_synonym="ASAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49MG5.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1847..1918
                     /gene="MAP9"
                     /gene_synonym="ASAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49MG5.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1997..2059
                     /gene="MAP9"
                     /gene_synonym="ASAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49MG5.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2096..2200
                     /gene="MAP9"
                     /gene_synonym="ASAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q49MG5.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2536..2541
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAP9"
                     /gene_synonym="ASAP"
                     /note="hexamer: AATAAA"
     polyA_site      2565
                     /gene="MAP9"
                     /gene_synonym="ASAP"
     regulatory      7304..7309
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAP9"
                     /gene_synonym="ASAP"
                     /note="hexamer: AATAAA"
     polyA_site      7328
                     /gene="MAP9"
                     /gene_synonym="ASAP"
                     /note="major polyA site"
ORIGIN
        1 cttcgtctgg gtggttgccc cagcgacacg ttgggccgaa gagcggtgtt gggtacccga
       61 gagacccggc ggtggggaag tcacttcctc ccgaagacgc tgtttcctag caaccgccct
      121 ccgcctctgt tattagcccc tcctcctcgc tcggtccagg accggctctg cgggcgccgc
      181 caggcccaga ccaagctact atcagaagtt gaattctaat aattagctat tttataaagg
      241 taacgagaaa aaatacacta tgtctgatga agtttttagc accactttgg catatacaaa
      301 gagtccaaaa gttaccaaaa gaactacttt ccaggatgag ctaataagag caattacagc
      361 tcgctcagcc agacaaagga gttctgaata ctcagatgac tttgacagtg atgagattgt
      421 ttctttaggt gatttttctg acacttcagc agatgaaaat tcagttaata aaaaaatgaa
      481 tgactttcat atatcagatg atgaagaaaa gaatccttca aaactattgt ttttgaaaac
      541 caataaatca aacggtaaca taaccaaaga tgagccagtg tgtgccatca aaaatgaaga
      601 ggaaatggca cctgatgggt gtgaagacat tgttgtaaaa tctttctctg aatctcaaaa
      661 taaggatgag gaatttgaaa aagacaaaat aaaaatgaaa cctaaaccca gaattctttc
      721 aattaaaagc acatcttcag cagaaaacaa cagccttgac acagatgatc actttaaacc
      781 atcacctcgg ccaaggagta tgttgaaaaa gaaaagtcac atggaggaga aggatggact
      841 agaagataaa gaaactgccc tcagtgaaga attggagtta cattctgcac cttcttccct
      901 tccaacgccg aatggcatac aattagaagc tgagaaaaaa gcattctctg aaaaccttga
      961 tcctgaggat tcatgcttaa caagtctagc atcatcatca cttaaacaaa ttcttggaga
     1021 ttctttttca ccaggatctg agggaaacgc atctggaaaa gatccaaatg aagaaatcac
     1081 tgaaaaccat aattccttga aatcagatga aaataaagag aattcatttt cagcagacca
     1141 tgtgactact gcagttgaga aatccaagga aagtcaagtg actgctgatg accttgaaga
     1201 agaaaaggca aaagcggaac tgattatgga tgatgacaga acagttgatc cactactatc
     1261 taaatctcag agtatcttaa tatctaccag tgcaacagca tcttcaaaga aaacaattga
     1321 agatagaaat ataaagaata aaaagtcaac aaataataga gcatccagtg catctgccag
     1381 attaatgacc tctgagtttt tgaagaaatc tagttctaaa aggagaactc catcgacaac
     1441 tacctcttct cactatttag ggactttaaa agtcttggac caaaaacctt cacagaaaca
     1501 gagcatagaa cctgatagag cagataacat aagggcagct gtttatcagg agtggttaga
     1561 aaagaaaaat gtgtatttac atgaaatgca cagaataaaa agaattgaaa gtgaaaactt
     1621 aaggatccaa aatgaacaga aaaaagctgc taaaagagaa gaagcattag catcatttga
     1681 ggcctggaag gctatgaaag aaaaggaagc aaagaaaata gctgccaaaa agaggcttga
     1741 agaaaaaaac aagaagaaaa ctgaagaaga aaatgctgca agaaaaggag aagcactaca
     1801 agcttttgaa aaatggaaag agaaaaagat ggaatatctt aaagagaaaa atagaaagga
     1861 gagagaatat gaaagagcaa agaaacagaa agaggaggaa actgttgccg agaaaaagaa
     1921 agataattta actgctgttg agaaatggaa tgaaaaaaag gaagcttttt tcaagcaaaa
     1981 ggaaaaagaa aaaataaatg agaaaagaaa ggaagaactg aaaagagctg agaaaaaaga
     2041 taaagataaa caagctatta atgaatatga aaaatggctg gaaaataagg aaaaacaaga
     2101 aagaattgaa cgaaaacaga agaaacgtca ttcctttctt gaaagtgagg cacttcctcc
     2161 gtggagccct ccaagcagaa ctgtgttcgc aaaagtgttt tgataattct agttcttaca
     2221 ttatttggtt atttatcggt ttgccaatat tagccataga tttaaaacca ttcaattatt
     2281 tatagttaga ggaatatatt ttaattaaat gccagacact cctgctgaca atgaaagaaa
     2341 tactttggaa tgtaatcagt gaaagcattt ttttgaactg tagataaact gcctcaaaca
     2401 aagacctaat aatcagattg tttttaccat taagatacat aagattttat catgtcctga
     2461 taattcttat ggtggagtga ttcatgatct ttttcattaa gctctgtatg ttatttaagt
     2521 atatttaatt ccagtaataa aaaggaaatc atctaggtac cataatgata gaaattattc
     2581 cttttgtgga tgattgtgaa tctagattca ggtttttaaa tgaagggtcg ctgggaagtg
     2641 cgcatatatt attccttctg aaactgatgt ttagctcaaa gcagttgcat ttgtactgtg
     2701 ctagttagaa ttttcatcag ttgaggcagt agctcagtag aactctaatc atcaaggctt
     2761 tttatttaag aattttgcct tatgttttaa tatgagtgta ctttatctgt tccaggctta
     2821 tgtgataatc ataggtactt tataatgagt ccacctctga aatttttctt tctgaattct
     2881 atctcacttt attatttcag tgataccaaa agacatcaat gtcacagtag tgatatactt
     2941 atgtattagt tatggaaatt ccacaggagt tcaaggtcat tatcactata attattttcc
     3001 tgactaaagc cataaaggtg atttaggcaa ttattgtcat cttagctagt cctgttttat
     3061 agcttatatt cagcagacag ctgtatggga aggtaaatat gttgacaatg tccacaaagc
     3121 ctttatttat ttatttattt gatctctgca tgtcctcgta gtaactggtc tcatacttga
     3181 cctggtcatc tggtttaaga cagaccaagt gtatgctcac ggagctgaaa tgcattagtc
     3241 agttgtgcaa tgaggagatg atggatgaga atatatagtt cctatttatt gagcatctaa
     3301 tatataatct ctactggacc tttacaaatg tatttaacat ctttacaaca acttttcagg
     3361 gtaggtgtta ccggcttcat cttacatata aaaatactgg cgctcagata aaccaagtaa
     3421 cttaccgtcc atctggagtg tgcctgagtt gagatcaaac gggattcagt acgtctgact
     3481 gaatctgcct ccttctgaaa tctctatgct ctttttcaca cttctctgta gcctcagaga
     3541 ctgccaagtt ctgtcaagac ctctgcataa tatcaacgtt acaaacacgt tttaactttt
     3601 agagcctaaa atcatgtatt gttatccaaa gatgatcttt ctctacagaa atagctgctt
     3661 gttcttagag atggtggagg tcattaaatc tataaagtga gataaaaatc cataagattt
     3721 catgagttac tcaggcatct tataactact atcagaatat cagaaaactc agcaagttat
     3781 gtgacaaagg ctttgagatg atcactccag acgttccaca tactgagcat cagccttctt
     3841 gctgcagtgc atgtgcaaga taagatgtca taggcagctt tgtaagattg tatcagtgct
     3901 atagacaatt aagagaaatt tcatagataa aactagaacc ctttctatat ggccagaact
     3961 gtaatacttt atgaaattga tctgattatc agcaatatgt agtatcagca tggaatttag
     4021 gacctctctt actcattcct gtgtccccca tagtaccaaa aacagtgcct gccaaaatag
     4081 attaaaagtg tttattgtat tagctgttta gagctgaaaa gatatttaca aattccaggg
     4141 aagtaaaagg aaaaaaactg aaaaaggtac agctactttt ggggatgtga gatcatggat
     4201 gtgtatctta tagatttcac attatttatt tactttccat tattttcttc tacattatca
     4261 tatttagtgg ctaaccatta ttacttctta ggttgttgtg agaaccgagt taattaatgt
     4321 aaactatttg acacataata aggacttaaa tgttcattgt tgtcattatt gatttattac
     4381 catgagccct acatttcccc attcatgagt gtgcgaacat taacatagat agggttgata
     4441 atggttattt gacattacac atttttagga agaagaaatt tctgtcttgc tggccagtcc
     4501 aggctgtaac actcaaaaaa acaaaacaaa acaaaacaaa acaaaaaaac agaaagatgc
     4561 cttgtattag ggccttccta aaaagaaagc taagtaagta ttaatttctt aggattgctt
     4621 ctgaggtagg atgaggtgtt tgcatagacc caacaagtca ttcacttcaa attttttttg
     4681 tcttactatg ataaataaca tattatttcc tgtttacagc aacctgcact gaaattaact
     4741 agttgaataa aatcacctct tctagcacaa ataaagctga gttcggggag gtgggtgaaa
     4801 atacagtact gttgtttact tcctaagatc caagggagag aatcaagctt ggtaatattc
     4861 tcttgaatat acatttacct atttaaaagg tatgattttc ccatatttcc ttaggaagta
     4921 tgtcatgtca atatagatat ttactcatta ggtttacatt aatttgtatt ataagggaat
     4981 gtttaattca aattaaggac attaaaagta tatagacttt catataaaag ttccggtttt
     5041 ataaattgcg ttgatcactt aaagaatgca gagatctcaa agtaaagaaa acaaatttta
     5101 tgaatatttt aaaacattac ttaaaacaag tttccttaga aagcacattt gtggataaat
     5161 ttaaatatta atactaaata ataaagtagt atacagaatt taaatttcat aataatgaag
     5221 aaagtggtaa tgctatttaa cttaaaagat gcaatatggc attttagatc aagaggttaa
     5281 agttttctta atgaaagaaa gtaacgattt atgggataaa aatattccag tggtttgtat
     5341 ttgcttcata cttcaaaagt gttagtccat ttattgttta aagttatatt gaaactgata
     5401 ttttcactgc tgccaaagca gtacctgaca gtagataggt atccacagtc ttatgttcct
     5461 tagagttata gaactatgcc tctgaaaggg gttttaatac tttaataaac ctggcctaaa
     5521 ctgttttatt tctaagttga agaaactgat tgtcaagtac tttgacttgt ccaatctcat
     5581 acaactaact atggtacatc tagagttaga tctcagtatc aggggtccca gttgtattct
     5641 gctcaccatt ccacaatttc gatattgata aaactttcac actaactttt gaactgtggt
     5701 tattattaat ttagttgatt catgtcctct tatttatctc cttactcctc cactgctgcc
     5761 ttcataactg tccaccagat caaagctatt tgggtaccta cactttaaag tgaggggaaa
     5821 taatgaagtt tcttaaatcc tgtgtcatgg actaagatac aataaagaaa aggaatttca
     5881 caaagtaggg gaaattacgt gttagttata atcattccca agaataaact agtaaaagaa
     5941 acttagattt ccctaattta atcttgactc cgattttgat agtgctatat aaaaaggtat
     6001 ttaaacccat atgcttcctt ttacataaaa gaaagatatc aactttccta gtttgcattt
     6061 acactggcta ataggataat aaaatgctgt gtaaatgtta aactggaagt ttctctgagt
     6121 tatttttact ttaaaatttc atgtgattat gccattttga atatgtatat tacatgtaat
     6181 tgtataatgt taactcgggt aggcaaaatt cttggtatta aatttaggat gttttaaaaa
     6241 ttattaagaa gatattaatg tctgcttttt gatagcatat attttcatgt aatgtttagt
     6301 gtattaaaat caaccattca agatttattt tattgggtga cactattgac tgtgttccaa
     6361 aatgcccata gtgttaggaa atgtggtgtg agttttattt gtgggctaag gataaaataa
     6421 tcatatgcta atataccttt tattataaat gactaaaaat ttggatataa aactgatgtt
     6481 ttactacaca aattacagag agagataata taattatata attattaaat aattagaaaa
     6541 tgcaaataag caaaagtcac ccatgttccc agttctcatc tcctgaagat agttataact
     6601 aacatattat tttgtactct tcctgttaat tagtttctag tgtactttct cctgtagctg
     6661 aaattaagct gagaaaaaag gaagagatag ttcctccctc ctctttctct ctcccactct
     6721 gtctctctcc tgtgctatct gtgtgtatat acaaatatgt atgcatatat atataatgat
     6781 gtacataata tatataaaat acaaatacta atgtgcatat tttcaaacat acacatattt
     6841 tttattattt gaaataagaa tgagtcagac tacatatttg gtagccagat ttttttcact
     6901 cagtgatata tcatgaacat atttccatgc taatataatt ttctaataat tttagatgct
     6961 gtaactacaa tttcattgtt aatgggcaat ttgttgcttt acaaatggta aattatatga
     7021 taaataatat gatcattatt cttgtagcca atatcattat tagaaatgat ggaccgcatt
     7081 aaagctataa aattaaataa gaatttataa atgtaaggag ttattcagac atcttgtatc
     7141 tagtattaca atatcagaaa actcagcagg ttatatgaca tatacacttt gagatagtca
     7201 ctcagaggtt ttcacataca ggattaacct tgctgcagtg cgtgtgcaag attaaaaaag
     7261 atgtcacggg tcactttgta atgtcatatc gttgctgttg ataaataaag gaaatgttat
     7321 aaataaaa
//
LOCUS       NM_001039591           12543 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens ubiquitin specific peptidase 9 X-linked (USP9X),
            transcript variant 4, mRNA.
ACCESSION   NM_001039591
VERSION     NM_001039591.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 12543)
  AUTHORS   Song N, Deng L, Zeng L, He L, Liu C, Liu L and Fu R.
  TITLE     USP9X deubiquitinates and stabilizes CDC123 to promote breast
            carcinogenesis through regulating cell cycle
  JOURNAL   Mol Carcinog 62 (10), 1487-1503 (2023)
   PUBMED   37314216
  REMARK    GeneRIF: USP9X deubiquitinates and stabilizes CDC123 to promote
            breast carcinogenesis through regulating cell cycle.
REFERENCE   2  (bases 1 to 12543)
  AUTHORS   Roldan-Romero JM, Valdivia C, Santos M, Lanillos J, Maroto P,
            Anguera G, Calsina B, Martinez-Montes A, Monteagudo M, Mellid S,
            Leandro-Garcia LJ, Montero-Conde C, Cascon A, Roncador G, Coloma J,
            Robledo M and Rodriguez-Antona C.
  TITLE     Deubiquitinase USP9X loss sensitizes renal cancer cells to mTOR
            inhibition
  JOURNAL   Int J Cancer 153 (6), 1300-1312 (2023)
   PUBMED   37260183
  REMARK    GeneRIF: Deubiquitinase USP9X loss sensitizes renal cancer cells to
            mTOR inhibition.
REFERENCE   3  (bases 1 to 12543)
  AUTHORS   Wang P, Wang J, Yao S, Cui M, Cheng Y, Liu W, Gao Z, Hu J, Zhang J
            and Zhang H.
  TITLE     Deubiquitinase USP9X stabilizes RNA m6A demethylase ALKBH5 and
            promotes acute myeloid leukemia cell survival
  JOURNAL   J Biol Chem 299 (8), 105055 (2023)
   PUBMED   37454738
  REMARK    GeneRIF: Deubiquitinase USP9X stabilizes RNA m[6]A demethylase
            ALKBH5 and promotes acute myeloid leukemia cell survival.
REFERENCE   4  (bases 1 to 12543)
  AUTHORS   Perurena N, Lock R, Davis RA, Raghavan S, Pilla NF, Ng R, Loi P,
            Guild CJ, Miller AL, Sicinska E, Cleary JM, Rubinson DA, Wolpin BM,
            Gray NS, Santagata S, Hahn WC, Morton JP, Sansom OJ, Aguirre AJ and
            Cichowski K.
  TITLE     USP9X mediates an acute adaptive response to MAPK suppression in
            pancreatic cancer but creates multiple actionable therapeutic
            vulnerabilities
  JOURNAL   Cell Rep Med 4 (4), 101007 (2023)
   PUBMED   37030295
  REMARK    GeneRIF: USP9X mediates an acute adaptive response to MAPK
            suppression in pancreatic cancer but creates multiple actionable
            therapeutic vulnerabilities.
REFERENCE   5  (bases 1 to 12543)
  AUTHORS   Chappell DL, Sandhu PK, Wong JP, Bhatt AP, Liu X, Buhrlage SJ,
            Temple BRS, Major MB and Damania B.
  TITLE     KSHV Viral Protein Kinase Interacts with USP9X to Modulate the Viral
            Lifecycle
  JOURNAL   J Virol 97 (3), e0176322 (2023)
   PUBMED   36995092
  REMARK    GeneRIF: KSHV Viral Protein Kinase Interacts with USP9X to Modulate
            the Viral Lifecycle.
REFERENCE   6  (bases 1 to 12543)
  AUTHORS   Murray RZ, Jolly LA and Wood SA.
  TITLE     The FAM deubiquitylating enzyme localizes to multiple points of
            protein trafficking in epithelia, where it associates with
            E-cadherin and beta-catenin
  JOURNAL   Mol Biol Cell 15 (4), 1591-1599 (2004)
   PUBMED   14742711
  REMARK    GeneRIF: FAM associates with E-cadherin and beta-catenin during
            trafficking to the plasma membrane
REFERENCE   7  (bases 1 to 12543)
  AUTHORS   Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G,
            Croughton K, Cruciat C, Eberhard D, Gagneur J, Ghidelli S, Hopf C,
            Huhse B, Mangano R, Michon AM, Schirle M, Schlegl J, Schwab M, Stein
            MA, Bauer A, Casari G, Drewes G, Gavin AC, Jackson DB, Joberty G,
            Neubauer G, Rick J, Kuster B and Superti-Furga G.
  TITLE     A physical and functional map of the human TNF-alpha/NF-kappa B
            signal transduction pathway
  JOURNAL   Nat Cell Biol 6 (2), 97-105 (2004)
   PUBMED   14743216
  REMARK    Erratum:[Nat Cell Biol. 2004 May;6(5):465]
REFERENCE   8  (bases 1 to 12543)
  AUTHORS   Noma T, Kanai Y, Kanai-Azuma M, Ishii M, Fujisawa M, Kurohmaru M,
            Kawakami H, Wood SA and Hayashi Y.
  TITLE     Stage- and sex-dependent expressions of Usp9x, an X-linked mouse
            ortholog of Drosophila Fat facets, during gonadal development and
            oogenesis in mice
  JOURNAL   Gene Expr Patterns 2 (1-2), 87-91 (2002)
   PUBMED   12617843
REFERENCE   9  (bases 1 to 12543)
  AUTHORS   D'Andrea A and Pellman D.
  TITLE     Deubiquitinating enzymes: a new class of biological regulators
  JOURNAL   Crit Rev Biochem Mol Biol 33 (5), 337-352 (1998)
   PUBMED   9827704
  REMARK    Review article
REFERENCE   10  (bases 1 to 12543)
  AUTHORS   Jones MH, Furlong RA, Burkin H, Chalmers IJ, Brown GM, Khwaja O and
            Affara NA.
  TITLE     The Drosophila developmental gene fat facets has a human homologue
            in Xp11.4 which escapes X-inactivation and has related sequences on
            Yq11.2
  JOURNAL   Hum Mol Genet 5 (11), 1695-1701 (1996)
   PUBMED   8922996
  REMARK    Erratum:[Hum Mol Genet 1997 Feb;6(2):334-5]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.163071.1,
            SRR1660807.201898.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378308.7/ ENSP00000367558.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL391259.15, AW183065.1,
            CD619095.1, BX956755.1, X98296.1, AA261797.1, BE925861.1,
            DA854185.1, BC063645.1, BC046205.1 and AL109797.18.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001039591.2.
            Summary: This gene is a member of the peptidase C19 family and
            encodes a protein that is similar to ubiquitin-specific proteases.
            Though this gene is located on the X chromosome, it escapes
            X-inactivation. Mutations in this gene have been associated with
            Turner syndrome. Alternate transcriptional splice variants,
            encoding different isoforms, have been characterized. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (4) uses an alternate in-frame
            splice site at the 3' end of an exon compared to variant 3. The
            resulting isoform (4) has the same N- and C-termini but is shorter
            compared to isoform 3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..12543
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.4"
     gene            1..12543
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="ubiquitin specific peptidase 9 X-linked"
                     /db_xref="GeneID:8239"
                     /db_xref="HGNC:HGNC:12632"
                     /db_xref="MIM:300072"
     misc_feature    785..787
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="upstream in-frame stop codon"
     CDS             824..8488
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /EC_number="3.4.19.12"
                     /note="isoform 4 is encoded by transcript variant 4;
                     Drosophila fat facets related, X-linked; ubiquitin specific
                     protease 9, X chromosome (fat facets-like Drosophila);
                     ubiquitin thiolesterase FAF-X; ubiquitin-specific
                     processing protease FAF-X; deubiquitinating enzyme FAF-X;
                     fat facets protein related, X-linked; probable ubiquitin
                     carboxyl-terminal hydrolase FAF-X; fat facets in mammals;
                     ubiquitin thioesterase FAF-X; ubiquitin-specific protease
                     9, X chromosome"
                     /codon_start=1
                     /product="probable ubiquitin carboxyl-terminal hydrolase
                     FAF-X isoform 4"
                     /protein_id="NP_001034680.2"
                     /db_xref="CCDS:CCDS55403.1"
                     /db_xref="GeneID:8239"
                     /db_xref="HGNC:HGNC:12632"
                     /db_xref="MIM:300072"
                     /translation="MTATTRGSPVGGNDNQGQAPDGQSQPPLQQNQTSSPDSSNENSPA
                     TPPDEQGQGDAPPQLEDEEPAFPHTDLAKLDDMINRPRWVVPVLPKGELEVLLEAAIDL
                     SKKGLDVKSEACQRFFRDGLTISFTKILTDEAVSGWKFEIHRCIINNTHRLVELCVAKL
                     SQDWFPLLELLAMALNPHCKFHIYNGTRPCESVSSSVQLPEDELFARSPDPRSPKGWLV
                     DLLNKFGTLNGFQILHDRFINGSALNVQIIAALIKPFGQCYEFLTLHTVKKYFLPIIEM
                     VPQFLENLTDEELKKEAKNEAKNDALSMIIKSLKNLASRVPGQEETVKNLEIFRLKMIL
                     RLLQISSFNGKMNALNEVNKVISSVSYYTHRHGNPEEEEWLTAERMAEWIQQNNILSIV
                     LRDSLHQPQYVEKLEKILRFVIKEKALTLQDLDNIWAAQAGKHEAIVKNVHDLLAKLAW
                     DFSPEQLDHLFDCFKASWTNASKKQREKLLELIRRLAEDDKDGVMAHKVLNLLWNLAHS
                     DDVPVDIMDLALSAHIKILDYSCSQDRDTQKIQWIDRFIEELRTNDKWVIPALKQIREI
                     CSLFGEAPQNLSQTQRSPHVFYRHDLINQLQHNHALVTLVAENLATYMESMRLYARDHE
                     DYDPQTVRLGSRYSHVQEVQERLNFLRFLLKDGQLWLCAPQAKQIWKCLAENAVYLCDR
                     EACFKWYSKLMGDEPDLDPDINKDFFESNVLQLDPSLLTENGMKCFERFFKAVNCREGK
                     LVAKRRAYMMDDLELIGLDYLWRVVIQSNDDIASRAIDLLKEIYTNLGPRLQVNQVVIH
                     EDFIQSCFDRLKASYDTLCVLDGDKDSVNCARQEAVRMVRVLTVLREYINECDSDYHEE
                     RTILPMSRAFRGKHLSFVVRFPNQGRQVDDLEVWSHTNDTIGSVRRCILNRIKANVAHT
                     KIELFVGGELIDPADDRKLIGQLNLKDKSLITAKLTQISSNMPSSPDSSSDSSTGSPGN
                     HGNHYSDGPNPEVESCLPGVIMSLHPRYISFLWQVADLGSSLNMPPLRDGARVLMKLMP
                     PDSTTIEKLRAICLDHAKLGESSLSPSLDSLFFGPSASQVLYLTEVVYALLMPAGAPLA
                     DDSSDFQFHFLKSGGLPLVLSMLTRNNFLPNADMETRRGAYLNALKIAKLLLTAIGYGH
                     VRAVAEACQPGVEGVNPMTQINQVTHDQAVVLQSALQSIPNPSSECMLRNVSVRLAQQI
                     SDEASRYMPDICVIRAIQKIIWASGCGSLQLVFSPNEEITKIYEKTNAGNEPDLEDEQV
                     CCEALEVMTLCFALIPTALDALSKEKAWQTFIIDLLLHCHSKTVRQVAQEQFFLMCTRC
                     CMGHRPLLFFITLLFTVLGSTARERAKHSGDYFTLLRHLLNYAYNSNINVPNAEVLLNN
                     EIDWLKRIRDDVKRTGETGIEETILEGHLGVTKELLAFQTSEKKFHIGCEKGGANLIKE
                     LIDDFIFPASNVYLQYMRNGELPAEQAIPVCGSPPTINAGFELLVALAVGCVRNLKQIV
                     DSLTEMYYIGTAITTCEALTEWEYLPPVGPRPPKGFVGLKNAGATCYMNSVIQQLYMIP
                     SIRNGILAIEGTGSDVDDDMSGDEKQDNESNVDPRDDVFGYPQQFEDKPALSKTEDRKE
                     YNIGVLRHLQVIFGHLAASRLQYYVPRGFWKQFRLWGEPVNLREQHDALEFFNSLVDSL
                     DEALKALGHPAMLSKVLGGSFADQKICQGCPHRYECEESFTTLNVDIRNHQNLLDSLEQ
                     YVKGDLLEGANAYHCEKCNKKVDTVKRLLIKKLPPVLAIQLKRFDYDWERECAIKFNDY
                     FEFPRELDMEPYTVAGVAKLEGDNVNPESQLIQQSEQSESETAGSTKYRLVGVLVHSGQ
                     ASGGHYYSYIIQRNGGDGERNRWYKFDDGDVTECKMDDDEEMKNQCFGGEYMGEVFDHM
                     MKRMSYRRQKRWWNAYILFYERMDTIDQDDELIRYISELAITTRPHQIIMPSAIERSVR
                     KQNVQFMHNRMQYSMEYFQFMKKLLTCNGVYLNPPPGQDHLLPEAEEITMISIQLAARF
                     LFTTGFHTKKVVRGSASDWYDALCILLRHSKNVRFWFAHNVLFNVSNRFSEYLLECPSA
                     EVRGAFAKLIVFIAHFSLQDGPCPSPFASPGPSSQAYDNLSLSDHLLRAVLNLLRREVS
                     EHGRHLQQYFNLFVMYANLGVAEKTQLLKLSVPATFMLVSLDEGPGPPIKYQYAELGKL
                     YSVVSQLIRCCNVSSRMQSSINGNPPLPNPFGDPNLSQPIMPIQQNVADILFVRTSYVK
                     KIIEDCSNSEETVKLLRFCCWENPQFSSTVLSELLWQVAYSYTYELRPYLDLLLQILLI
                     EDSWQTHRIHNALKGIPDDRDGLFDTIQRSKNHYQKRAYQCIKCMVALFSNCPVAYQIL
                     QGNGDLKRKWTWAVEWLGDELERRPYTGNPQYTYNNWSPPVQSNETSNGYFLERSHSAR
                     MTLAKACELCPEEEPDDQDAPDEHESPPPEDAPLYPHSPGSQYQQNNHVHGQPYTGPAA
                     HHMNNPQRTGQRAQENYEGSEEVSPPQTKDQ"
     misc_feature    824..1018
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="propagated from UniProtKB/Swiss-Prot (Q93008.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2585..2587
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q93008.4); phosphorylation site"
     misc_feature    2591..2593
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q93008.4); phosphorylation site"
     misc_feature    3722..3820
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="propagated from UniProtKB/Swiss-Prot (Q93008.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5597..5686
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="propagated from UniProtKB/Swiss-Prot (Q93008.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5621..5623
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q93008.4); phosphorylation site"
     misc_feature    8150..8152
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17693683,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q93008.4); phosphorylation site"
     misc_feature    8246..8485
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="propagated from UniProtKB/Swiss-Prot (Q93008.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    8441..8443
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455; propagated from
                     UniProtKB/Swiss-Prot (Q93008.4); phosphorylation site"
     misc_feature    8462..8464
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q93008.4); phosphorylation site"
     misc_feature    8474..8476
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q93008.4); phosphorylation site"
     regulatory      8689..8694
                     /regulatory_class="polyA_signal_sequence"
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="hexamer: AATAAA"
     polyA_site      8723
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="major polyA site"
     regulatory      9741..9746
                     /regulatory_class="polyA_signal_sequence"
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="hexamer: AATAAA"
     polyA_site      9763
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
     regulatory      9934..9939
                     /regulatory_class="polyA_signal_sequence"
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="hexamer: AATAGA"
     polyA_site      9956
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
     regulatory      10356..10361
                     /regulatory_class="polyA_signal_sequence"
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="hexamer: ATTAAA"
     polyA_site      10383
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
     regulatory      12523..12528
                     /regulatory_class="polyA_signal_sequence"
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
                     /note="hexamer: AATAAA"
     polyA_site      12543
                     /gene="USP9X"
                     /gene_synonym="DFFRX; FAF; FAM; hFAM; MRX99; MRXS99F;
                     XLID99"
ORIGIN
        1 gtttgccgga tccgccatat tgacgaggac gggcatccgc ggctgcggac gctagtctcc
       61 gccgccgccg gagccgcaac ctctccgcac ccggccccgt cagggcctct gtcgcgccta
      121 gcccctcccc gccttacaca gctcccgggc ctcgcgggag cccgccgccg ccgcctctct
      181 ctcacgggag gcggccgcct tagcgcccgg tgcttgggtc ggcgccggga gcgaggagcg
      241 agctacttca aagccaccag gcctggagcg gggacagagg cggcgactag gggaaggtga
      301 agccgtcgct gcaggaggag gagcaggagg aggtgacgca ggagaaacgc accgcccgga
      361 gcccgtctga gctcagcgag agccccagcc tgaggggaga aggggaagag ggccgtcgcc
      421 ggccaaggag gaggaggagg cgggcgcggc gaggagcgag ttccggcgcc ggtgtgcagc
      481 cttttggttg agacgcccgc agccccgagc ccggccgccg cagcctttcg atacactttg
      541 ttgccggtca cccccgggcc tgggatgcac ccagggtagg tctcgtcccg ggaccgagcc
      601 ccaccgtcgc ctggtgcctc ccgcctccgt gtgccctggt tgtgagaaga cgtctgtgtc
      661 gtgcggttat gcaatggtct ctgcaagatg gtttattctt gaattggacc tttttaagac
      721 tgacaaatgc tggtacttca tcttctataa gtggactata atttcttttc tcaagacaac
      781 tacataagca gacaaaattg caaagatctg ccctgtgtcg agtatgacag ccacgactcg
      841 tggctctccg gtcggaggga atgacaacca gggccaggct cctgatggac agtctcagcc
      901 ccccctccaa cagaatcaga cttcatcgcc tgattcttcc aatgaaaatt ccccggcaac
      961 tcccccagat gagcaaggtc aaggtgatgc cccaccacag cttgaagatg aggaacctgc
     1021 atttccacat actgacttgg ccaagttgga tgacatgatc aacaggcctc gatgggtggt
     1081 tccagttttg ccgaaagggg aattagaagt gcttttagaa gctgctattg atcttagtaa
     1141 aaagggcctt gatgttaaaa gtgaagcatg tcagcgattt ttccgtgatg ggctaacaat
     1201 atcattcact aaaattctta cagatgaagc agtgagtggc tggaagtttg aaattcatag
     1261 gtgtattatt aacaatactc atcgtctggt ggagctatgt gtggccaagt tgtcccaaga
     1321 ctggtttcca cttttagaac ttcttgccat ggccttaaat cctcattgca aattccatat
     1381 ctacaatggt acacgtccat gtgaatcagt ttcctcaagt gttcagttgc ctgaagatga
     1441 actctttgct cgttctccag atcctcgatc accaaagggt tggctagtgg atcttctcaa
     1501 caaatttggc actttaaatg ggttccagat tttgcatgat cgttttatta atggatcagc
     1561 attaaacgtt caaataattg cagcccttat taaaccattt gggcaatgct atgagtttct
     1621 cactcttcat acagtgaaaa agtactttct tccaataata gaaatggttc cacagttttt
     1681 agaaaactta actgatgaag aactgaaaaa agaagcaaag aatgaagcca aaaatgatgc
     1741 tctttcaatg attattaaat ctttgaagaa tttagcttca agggttccag gacaagaaga
     1801 aactgttaaa aacttagaaa tatttaggtt aaaaatgata cttagattat tgcaaatttc
     1861 ttctttcaat ggaaagatga atgcactgaa tgaagttaat aaggtgatat ctagtgtatc
     1921 atactatact catcgacatg gtaatcctga ggaggaagag tggctcacag ctgaacgaat
     1981 ggcagaatgg atacagcaga acaatatctt atccatagtg ttgcgagata gtcttcatca
     2041 gccacagtat gtagaaaagt tagagaagat tcttcgtttt gtcatcaaag aaaaagctct
     2101 gaccttacag gatcttgata atatctgggc agcacaggca gggaaacatg aagccattgt
     2161 gaagaatgta catgatctcc tggcaaaatt ggcatgggat ttttctcctg aacaacttga
     2221 tcatcttttt gattgtttta aggccagttg gacaaatgcg agtaaaaagc aacgtgaaaa
     2281 gctacttgag ctgatacgtc gtcttgcaga agatgataaa gatggtgtga tggcacacaa
     2341 agtgttgaac cttctgtgga atctggctca cagtgatgat gtgcctgtag atatcatgga
     2401 cctggctctc agtgcccaca taaaaatact agattacagt tgctcccagg accgtgatac
     2461 acaaaagatc caatggatag atcgctttat agaagaactt cgcacaaatg acaaatgggt
     2521 tattcccgca ctgaaacaaa ttagagaaat ttgtagtttg tttggtgaag cgcctcaaaa
     2581 tttgagtcaa actcagcgaa gtccccatgt gttttatcgc catgacttaa tcaatcaact
     2641 tcaacacaat catgccctag ttactttggt agcagaaaac cttgcaactt acatggaaag
     2701 catgagacta tatgctagag accatgaaga ttatgaccca caaactgtga ggctgggaag
     2761 tagatatagt catgttcaag aagttcaaga acggcttaac ttccttagat ttttattgaa
     2821 ggatggtcag ctgtggctat gtgctcctca ggcaaaacaa atatggaaat gcttagctga
     2881 gaatgcagtt tacctttgtg atcgtgaagc ctgttttaag tggtattcca agttgatggg
     2941 ggatgaacca gacttagatc ctgatattaa taaggacttc tttgaaagta atgtgcttca
     3001 gcttgatcct tctctgttaa ctgaaaatgg aatgaagtgt tttgagcgat tcttcaaagc
     3061 tgtgaattgt cgagaaggaa aactagtagc aaaaaggaga gcctatatga tggatgactt
     3121 ggagttaata ggattagatt acctttggag ggtcgtgatt cagagtaatg atgatattgc
     3181 cagcagagct atagatctcc tcaaagagat atacacgaac cttggtccaa gactacaagt
     3241 caatcaggtg gtgatccatg aagacttcat tcagtcttgt tttgatcgtc tgaaggcttc
     3301 ctatgacaca ttgtgtgttt tggatggtga caaagacagt gttaattgtg caagacagga
     3361 agctgttcga atggttcgag tattaactgt tttaagggaa tatataaatg aatgtgacag
     3421 tgattatcat gaggaaagaa caattctccc tatgtcgaga gcattccgcg gtaaacacct
     3481 ctcttttgta gttcgatttc caaaccaggg cagacaggtt gatgacttgg aggtatggtc
     3541 tcatacaaat gatacaattg gttcagtacg acgatgtatt ctcaatcgta ttaaagccaa
     3601 cgtagcccat acaaaaattg agctctttgt gggcggtgag ctgatagatc ctgcagatga
     3661 tagaaagttg attggacaat taaacttaaa agataaatcg cttattacag ccaaacttac
     3721 acagataagt tccaatatgc cttcaagccc tgatagctct tctgattcct ccactggatc
     3781 tcctggaaac catggtaatc attacagtga tggtcccaat ccagaagtgg aaagctgttt
     3841 gcctggagtg ataatgtcac tgcatcccag atacatctct tttctttggc aagttgcaga
     3901 cttaggtagc agcctaaata tgccacccct tagagatgga gcaagagtac ttatgaaact
     3961 tatgccgcca gatagcacaa cgatagaaaa attaagagct atttgtttag accatgccaa
     4021 acttggagaa agcagcctta gtccatctct tgactcactt ttctttggtc cttcagcctc
     4081 acaagtgcta tatctaacag aggtagtcta tgccttgtta atgcctgctg gtgcacctct
     4141 ggctgatgat tcctctgatt ttcagtttca cttcttgaaa agtggtggcc taccccttgt
     4201 actgagtatg ctaaccagaa ataacttcct accgaatgca gatatggaaa ctcgaagggg
     4261 tgcctacctc aatgctctta aaatagccaa gcttttgcta actgccattg gctatggtca
     4321 tgttcgagct gtggcagaag cttgtcagcc aggtgtagaa ggtgtgaatc ccatgacaca
     4381 gatcaaccaa gttacccatg atcaagcagt ggtgctacaa agtgcccttc agagcattcc
     4441 taatccatca tccgagtgca tgcttagaaa tgtgtcagtt cgtcttgctc agcagatatc
     4501 tgatgaggct tcaagatata tgcctgatat ttgtgtaatt agagctatac aaaaaattat
     4561 ctgggcatca ggatgtgggt cgttacagct agtatttagc ccaaatgaag aaatcactaa
     4621 aatttatgag aagaccaatg caggcaatga gccagacttg gaagacgaac aggtttgctg
     4681 tgaagcattg gaagtgatga ccttatgttt tgccttgatt ccaacagcct tagatgctct
     4741 tagtaaagaa aaggcttggc agacattcat cattgactta ctattgcact gtcacagcaa
     4801 aactgttcgt caggtggcac aggagcagtt ctttttaatg tgcaccagat gttgcatggg
     4861 acaccggcct ctacttttct tcattactct actctttact gttttgggga gcacagcaag
     4921 agagagagct aaacactcag gcgactactt tactctttta agacaccttc ttaattacgc
     4981 ttacaatagt aatattaatg tacccaatgc tgaagttctt ctcaataatg aaattgattg
     5041 gcttaaaaga attagggatg atgttaaaag aacaggagaa acgggtattg aagagacgat
     5101 cttagagggc caccttggag tgacaaagga gttactggcc tttcaaactt ctgagaaaaa
     5161 atttcatatt ggttgtgaaa aaggaggtgc taatctcatt aaagaattaa ttgatgattt
     5221 catatttcct gcatccaatg tttacctaca gtatatgaga aatggagagc ttccagctga
     5281 acaggctatt ccggtctgtg gttcaccacc tacaattaat gctggttttg aattacttgt
     5341 agcattagct gttggctgtg tgaggaatct caaacaaata gtagattctt tgactgaaat
     5401 gtattacatt ggcacagcaa taactacttg tgaagcactt actgagtggg aatatctgcc
     5461 acctgttgga ccccgcccac ccaaaggatt cgtggggctg aaaaatgccg gtgctacttg
     5521 ttacatgaat tctgtgattc agcaactcta catgattcct tccattagga acggtattct
     5581 tgccattgaa ggcacaggta gtgatgtaga tgatgatatg tctggggatg agaagcagga
     5641 caatgagagc aatgttgatc ccagggatga tgtatttgga tatcctcaac aatttgaaga
     5701 taaaccagca ttaagtaaaa ctgaagatag aaaagagtac aacattggtg tcctaagaca
     5761 ccttcaggtc atctttggtc atttagctgc ttctcgactg caatactatg tgcccagagg
     5821 attttggaaa cagttcaggc tttggggtga gcctgttaat ctgcgtgaac aacacgatgc
     5881 tttagaattt tttaattcat tggtggatag tttagatgaa gctttaaaag ctttaggaca
     5941 tccagctatg ctaagtaaag tcttaggagg ttcctttgct gatcagaaga tctgccaagg
     6001 ctgcccacat aggtacgaat gtgaagaatc ttttacgacc ctaaacgtag acattagaaa
     6061 tcaccaaaat cttcttgatt ctttggaaca gtatgtcaaa ggagatttac tagaaggtgc
     6121 aaatgcatat cattgtgaaa aatgcaataa aaaggttgat accgtaaagc gcttgctgat
     6181 taaaaaatta cctcctgttc ttgctataca actaaagcga tttgactatg actgggaaag
     6241 agaatgtgca atcaagttca atgattattt tgaatttcct cgagagctgg acatggaacc
     6301 ttacacagtt gcaggtgtcg caaagctgga aggggataat gtaaacccag agagtcagtt
     6361 gatacaacag agtgagcagt ctgaaagtga gacagcagga agcacaaaat acagacttgt
     6421 gggtgtgctc gtacacagtg gtcaagcgag tggggggcat tattattctt acatcatcca
     6481 aaggaatggt ggagatggtg agagaaatcg ctggtataaa tttgatgatg gtgatgtaac
     6541 agaatgtaaa atggatgatg acgaagaaat gaaaaaccag tgttttggtg gagagtacat
     6601 gggagaagtg tttgatcaca tgatgaagcg tatgtcatac aggcgccaga aaaggtggtg
     6661 gaatgcttat atactttttt atgaacgaat ggacacaata gaccaagatg atgagttgat
     6721 aagatatata tcagagcttg ctatcaccac cagacctcat cagattatta tgccatcagc
     6781 cattgagaga agtgtacgga aacagaacgt acaattcatg cataaccgaa tgcagtacag
     6841 tatggagtat tttcagttta tgaaaaaact gcttacatgt aatggcgttt acttaaaccc
     6901 tcctcccggg caagatcacc tgttgcctga agcagaagaa atcactatga tcagtattca
     6961 acttgctgct aggttcctct ttactacagg atttcacaca aagaaagtag tccgtggctc
     7021 tgccagtgat tggtatgatg cattgtgtat tctccttcgt cacagcaaga atgtacgttt
     7081 ttggtttgct cataacgtcc tttttaatgt ttcaaatcgc ttctccgaat accttctgga
     7141 gtgccctagt gcagaagtga ggggtgcgtt tgcaaaactt atagtcttta ttgcacattt
     7201 ttccttgcaa gatgggccat gtccttcacc ttttgcctct cctggacctt ctagtcaggc
     7261 ttatgacaac ttaagcttga gtgatcactt actaagagca gtactaaatc tcttgagaag
     7321 ggaagtttca gagcatgggc gtcatttaca gcagtatttc aacctgtttg taatgtatgc
     7381 caatttaggt gtggcagaga agacacagct tctgaaattg agtgtacctg ctacttttat
     7441 gcttgtgtct ttagatgaag gtccaggtcc tccaatcaaa taccagtatg ctgaattagg
     7501 caaattatac tcagtagtgt cacagctgat ccgctgttgc aatgtctctt caagaatgca
     7561 gtcttcaatc aatggtaatc ctcctcttcc caatcctttt ggtgatccta atttatcaca
     7621 acctataatg ccaattcagc agaatgtggc agacatttta tttgtgagaa caagttatgt
     7681 gaagaaaatc attgaagact gcagtaattc agaggaaacc gtcaaattgc ttcgtttttg
     7741 ctgctgggag aatcctcagt tctcatctac tgtcctcagt gaacttctct ggcaggttgc
     7801 atattcctat acctatgaac tgcggcccta tttggatctg cttttgcaaa tcttactgat
     7861 tgaggactcc tggcaaactc acagaattca taatgcactg aaaggaattc cagatgaccg
     7921 agatgggctg tttgacacaa tccagcgctc taagaatcac tatcaaaaaa gagcatacca
     7981 gtgtataaaa tgtatggtag ctctatttag taactgtcct gttgcttacc aaatcctgca
     8041 gggcaatgga gatcttaaaa gaaagtggac ctgggcagtg gaatggcttg gagatgaact
     8101 tgaaagaaga ccatatactg gcaatcctca gtacacttac aacaattggt ctcccccagt
     8161 gcaaagcaat gaaacgtcca atggttattt cttggagaga tcacatagtg ctaggatgac
     8221 acttgcaaaa gcttgtgaac tctgtccaga ggaggagcca gatgaccaag atgctccaga
     8281 tgaacatgag tcgcctccac ctgaagatgc cccattgtac ccccattcac ctggatctca
     8341 gtatcaacag aataaccatg tgcatggaca gccatataca ggcccagcag cacatcacat
     8401 gaacaaccct cagagaactg gccaacgagc acaagaaaat tatgaaggca gtgaagaagt
     8461 atccccacct caaaccaagg atcaatgaaa tgcacataat taactggttc catcaagact
     8521 gtgcacccag gccttacagt ccaacctttt tctgtgtctg gctaatattt aaaactagaa
     8581 aaactattcc taatcaacat ggagtggaga gtttattcac tgtcttatct gcagaaattt
     8641 gctgtcaata tataacccgc ctgcagtgga aagtgtatag tgttttgtaa taaatggcct
     8701 gatgctaatg tgtaaatggc aaaggtgtat atagtatatt aatgttgact gttaattctt
     8761 aagcaagaaa cttttttctt gatgagactc acagatctac acaaactaca aaagttaatt
     8821 ttcttgttac acccactgca ctctgcaacc agtgttgcct gcctcatggc agttggatca
     8881 gctcctttac aaaaaagaaa aaaaaaaaac caacagcaac aaaacagagc ccatccatgt
     8941 cagccacacc aatagtttca tgttaattct ttgccactgg agtcaatttt gctatgagca
     9001 atgtaaggct ggtaaccttt aaattatttg gttgatgtgg aaaattggtg atgtaacact
     9061 gtttctagat ttttttcatt gcctttttat tctgatatta ggttaatcac tttgaagcta
     9121 tagttatgct gtaacattta gcatggcttc acaccaagtt agtgtagcca atgaggaaaa
     9181 agttaccata atgacagcag ttgtccgaga agtgacagct gtattactca gagcttttac
     9241 ttcttacacc tagaatatta aaatataaaa caaggggaga aatgtgacag tctattttca
     9301 gttgcacata tgttccttat atataatgtt tgacagttca atctctgggt ggaataaaga
     9361 acacttacgt atcagtaatg ggaattttta aagatttaaa acaaatatgc aaaaatttgc
     9421 tatgccaaga tgctggagca taatataaga ctgtatttgg tgtgcttgtt ttgtttcttt
     9481 ggtagagttt attaggtgaa tcttctaaaa ctttccttct gttggatccc agtgacgtgg
     9541 aagtcatcag aaccccacgg tacttggagt acctctctgc accaagatag ctggctgatt
     9601 ttctgctcag tcacaatttt acttgaaagc aagaattgtc ctagctcctt ttccattatt
     9661 ccaaaacgtt taacgttcaa agcagggtct cattaaaaaa gaaactactg gttgatataa
     9721 ttgagatatt acaatttcag aataaacatt tgattaaaaa taaggaaatc ctcagttcat
     9781 actgtattta aaagagaatt ggtaacttga atgtgtgtaa ttttttggaa cctgtctaaa
     9841 aaccaaatac ccctgcaaac agatacagcc caccctattc tatttaaata ttttgctgtt
     9901 ttattttata gaaattattt tgctgaattc acaaatagaa tttgatttaa gaagaacttt
     9961 ttgtcctgtg gtgtgttttt ggtttttttt ttggttactt tttttgtcct tttttttttt
    10021 ttttaaaaga ggactgcata ttaaaattca ttctgtgcat agcatgccta ggcatgacac
    10081 tgattcagga tttcagtcac atcaagtttt tgtgcacaga aagatttgac ctttggccct
    10141 ctactgaaga ttttgagaaa tcaggatgtt gacactgtaa aagtttccta acataatctt
    10201 gtactttttg tatgtttttt atatacatgt atatttaatg agcacaagct tggttgtatt
    10261 ttttacaatt cagttaatag ggaaatgttt tgtcaaaagg ctacacttgg aactgaacaa
    10321 agcagaaaca aaattgagca ttgcattatt ttgtgattaa aaggggcagg tatttaagat
    10381 aaagctttgg gtatcttatt tgtagtactg tatagtcaac ctgtgcttct aggtgttcct
    10441 gtaggacatt ttgacaccga tactttgagt gaaagtcaca cacggtgttt gcaattccaa
    10501 ctgatttttg ttttgttttt atttttttgt tgttttcttc tttgagatgg agtcttgctc
    10561 tgtcacccag gctggagtgc agtggcacaa tcttggctca ctgcaacgtc gcctcctggg
    10621 ttcaagcgat tcttccgcct cagcctcccg agtagctggg attagaggtg cccaccacca
    10681 cgcccagcta atttttgtat ttttgtagag acagggtttc accacgttgg ccaggctggt
    10741 cttgaactcc tgacctcagg tgatctggcc gcctcggcct cccaaagtgc tgggattgca
    10801 ggtgtgagcc accgcgcctg gccccagttg atagtttttt taatttaaaa gttcctcaat
    10861 tccaagctct ttaaacgagt gaaataggtt aactttattt ggatgagtta ggtgtaccat
    10921 ctcaccatct gagaggagat ttatatattt cctgctgctc cttaacaaaa tatgtaatgt
    10981 acttaaaaac tttaacgact tcctagttga gagaaaactt gacatataaa aggctgtgaa
    11041 tttttctgct tggaggaaga gcccaacctt ggttgctttg aagttacaag cccccttgtg
    11101 ccaggtgagg ggcttgtgag tcatttttgt ctccatttga ggaagagtgg tattcgttgt
    11161 gactaggagc aagggaaagt ggagttattt ttgtttgtgc aaattatttt ctatatttaa
    11221 ctcaagcatt aatgtataac cagaaattta aagatgcatg ttgttgcaag agcaacataa
    11281 tggtgatttt gaggtctttt tctgaacaca agtggcacat tttaaatttc aagtcttcaa
    11341 agtgcctaag gattatttag ttctccctca actgattttt tgagccatat atttcctatt
    11401 ttaaatgttt gcggaatcgc cagtcttcct ttgaaagaaa cagcccccag aattctaaat
    11461 gacacgatta tagaagacag tagaatgtgt taccataaag actgaagata ttttagttgt
    11521 aaaaccatgt gaacaagggc ttttgcccta ttgtatctaa gtatttcagt gcacaacttg
    11581 ttaaaccatg ttgctgctgt ttctaagccc tccaccaact gaactttcat gtttagcatt
    11641 gtagaggcag aaataacata ctaggttttt tttttctttc attgattttt ctcctggtga
    11701 taatttccca gccttgtgtc ttttagctgt tgtgtataca aatttagaat taaaatgttt
    11761 tctatttttt tcatgattaa cttagtgaat aacttaaatc cttaatcctc gtagtggtta
    11821 gaaagatgag gagacttttt tgacttacat ttgtaaatga aaacaagtct gtgaatattc
    11881 agatgactac ttcgaagtaa ttcagttttt ttattagtat ttttccagct tatgttttcc
    11941 catgagctat tttactttgc tgaattttgt gggtaatttg gtggatatat cctgccttat
    12001 ttaggattat agctggataa gaaaattgcc ttttcattgt aagtgcccag ttttggtctc
    12061 tagtttgaag gtactacata ctgccgataa aggaaaacac tcccctacac cccagttttt
    12121 gtgttaccaa gaaaaaaaaa acagtattgg tttcatagta ggactcaacc agaattggtc
    12181 ctacatatat gtgagtgttc agtttttgca aataaggttt ttgagtgtga taaaacacta
    12241 cagaagtgct aagtgtattg agaatttgct gctgattgta tttataacaa ttacttgacg
    12301 tttgcagaaa tttagcactt tccctccaaa tttataggtg taagagaagc gggggcaagg
    12361 tgcaccacat tttaaaactg caaatgtgtg aaaatttatt tagagattca gattcctaaa
    12421 aggaaatttc accacccaag tcatgcactt cttagccttt tacaagccaa cagactgaca
    12481 tgaagattgt tcacagttcc taagatttag cacatataca aaaataaaac tttataaatt
    12541 caa
//
LOCUS       NM_001039592            1716 bp    mRNA    linear   PRI 16-JUN-2023
DEFINITION  Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant
            1, mRNA.
ACCESSION   NM_001039592
VERSION     NM_001039592.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1716)
  AUTHORS   Gui M, Croft JT, Zabeo D, Acharya V, Kollman JM, Burgoyne T, Hoog JL
            and Brown A.
  TITLE     SPACA9 is a lumenal protein of human ciliary singlet and doublet
            microtubules
  JOURNAL   Proc Natl Acad Sci U S A 119 (41), e2207605119 (2022)
   PUBMED   36191189
REFERENCE   2  (bases 1 to 1716)
  AUTHORS   Wu H, Chen Y, Miao S, Zhang C, Zong S, Koide SS and Wang L.
  TITLE     Sperm associated antigen 8 (SPAG8), a novel regulator of activator
            of CREM in testis during spermatogenesis
  JOURNAL   FEBS Lett 584 (13), 2807-2815 (2010)
   PUBMED   20488182
  REMARK    GeneRIF: Results indicate that SPAG8 acts as a regulator of ACT and
            plays an important role in CREM-ACT-mediated gene transcription
            during spermatogenesis.
REFERENCE   3  (bases 1 to 1716)
  AUTHORS   Li R, Tang XL, Miao SY, Zong SD and Wang LF.
  TITLE     Regulation of the G2/M phase of the cell cycle by sperm associated
            antigen 8 (SPAG8) protein
  JOURNAL   Cell Biochem Funct 27 (5), 264-268 (2009)
   PUBMED   19548270
  REMARK    GeneRIF: Sperm associated antigen 8 might be involved in the
            regulation of cell cycle by changing the phosphorylation level of
            Tyr15 on CDC2 Protein Kinase.
REFERENCE   4  (bases 1 to 1716)
  AUTHORS   Cheng GY, Shi JL, Wang M, Hu YQ, Liu CM, Wang YF and Xu C.
  TITLE     Inhibition of mouse acrosome reaction and sperm-zona pellucida
            binding by anti-human sperm membrane protein 1 antibody
  JOURNAL   Asian J Androl 9 (1), 23-29 (2007)
   PUBMED   17187156
  REMARK    GeneRIF: The antibody of this recombinant protein inhibits the mouse
            acrosome reaction and prmits mouse sperm-zona pellucida binding.
REFERENCE   5  (bases 1 to 1716)
  AUTHORS   Tang X, Zhang J, Cai Y, Miao S, Zong S, Koide SS and Wang L.
  TITLE     Sperm membrane protein (hSMP-1) and RanBPM complex in the
            microtubule-organizing centre
  JOURNAL   J Mol Med (Berl) 82 (6), 383-388 (2004)
   PUBMED   15014887
REFERENCE   6  (bases 1 to 1716)
  AUTHORS   Zhang XD, Miao SY, Wang LF, Li Y, Zong SD, Yan YC and Koide SS.
  TITLE     Human sperm membrane protein (hSMP-1): a developmental
            testis-specific component during germ cell differentiation
  JOURNAL   Arch Androl 45 (3), 239-246 (2000)
   PUBMED   11111873
REFERENCE   7  (bases 1 to 1716)
  AUTHORS   Wang H, Miao S, Chen D, Wang L and Koide SS.
  TITLE     Assignment of chromosomal locus and evidence for alternatively
            spliced mRNAs of a human sperm membrane protein (hSMP-1)
  JOURNAL   Biochim Biophys Acta 1447 (1), 119-124 (1999)
   PUBMED   10500252
REFERENCE   8  (bases 1 to 1716)
  AUTHORS   Diekman AB and Herr JC.
  TITLE     Sperm antigens and their use in the development of an
            immunocontraceptive
  JOURNAL   Am J Reprod Immunol 37 (1), 111-117 (1997)
   PUBMED   9138444
  REMARK    Review article
REFERENCE   9  (bases 1 to 1716)
  AUTHORS   Liu QY, Wang LF, Miao SY and Catterall JF.
  TITLE     Expression and characterization of a novel human sperm membrane
            protein
  JOURNAL   Biol Reprod 54 (2), 323-330 (1996)
   PUBMED   8788182
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HM005490.1, AK302313.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396638.7/ ENSP00000379878.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U12978.2, BI757195.1,
            CA314354.1 and AL133410.32.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001039592.1.
            Summary: The correlation of anti-sperm antibodies with cases of
            unexplained infertility implicates a role for these antibodies in
            blocking fertilization. Improved diagnosis and treatment of
            immunologic infertility, as well as identification of proteins for
            targeted contraception, are dependent on the identification and
            characterization of relevant sperm antigens. The protein encoded by
            this gene is recognized by sperm agglutinating antibodies from an
            infertile woman. This protein is localized in germ cells of the
            testis at all stages of spermatogenesis and is localized to the
            acrosomal region of mature spermatozoa. This protein interacts with
            ACT (activator of CREM in testis) and may play a role in CREM (cAMP
            response element modulator)-ACT-mediated gene transcription during
            spermatogenesis. This protein may also play a role in
            spermatogenesis by regulating microtubule formation and cell
            division. Alternatively spliced variants that encode different
            protein isoforms have been described but the full-length sequences
            of only two have been determined. [provided by RefSeq, Jul 2012].
            Transcript Variant: This variant (1) includes an alternate exon in
            the 3' coding region, compared to variant 2. The resulting protein
            (isoform 1) is shorter and has a distinct C-terminus, compared to
            isoform 2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1716
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..1716
                     /gene="SPAG8"
                     /gene_synonym="BS-84; CILD28; CT142; HSD-1; hSMP-1; SMP1;
                     SPAG3"
                     /note="sperm associated antigen 8"
                     /db_xref="GeneID:26206"
                     /db_xref="HGNC:HGNC:14105"
                     /db_xref="MIM:605731"
     CDS             116..1573
                     /gene="SPAG8"
                     /gene_synonym="BS-84; CILD28; CT142; HSD-1; hSMP-1; SMP1;
                     SPAG3"
                     /note="isoform 1 is encoded by transcript variant 1; sperm
                     membrane protein 1; sperm membrane protein BS-84;
                     testicular tissue protein Li 177"
                     /codon_start=1
                     /product="sperm-associated antigen 8 isoform 1"
                     /protein_id="NP_001034681.1"
                     /db_xref="CCDS:CCDS43798.1"
                     /db_xref="GeneID:26206"
                     /db_xref="HGNC:HGNC:14105"
                     /db_xref="MIM:605731"
                     /translation="METNESTEGSRSRSRSLDIQPSSEGLGPTSEPFPSSDDSPRSALA
                     AATAAAAAAASAAAATAAFTTAKAAALSTKTPAPCSEFMEPSSDPSLLGEPCAGPGFTH
                     NIAHGSLGFEPVYVSCIAQDTCTTTDHSSNPGPVPGSSSGPVLGSSSGAGHGSGSGSGP
                     GCGSVPGSGSGPGPGSGPGSGPGHGSGSHPGPASGPGPDTGPDSELSPCIPPGFRNLVA
                     DRVPNYTSWSQHCPWEPQKQPPWEFLQVLEPGARGLWKPPDIKGKLMVCYETLPRGQCL
                     LYNWEEERATNHLDQVPSMQDGSESFFFRHGHRGLLTMQLKSPMPSSTTQKDSYQPPGN
                     VYWPLRGKREAMLEMLLQHQICKEVQAEQEPTRKLFEVESVTHHDYRMELAQAGTPAPT
                     KPHDYRQEQPETFWIQRAPQLPGVSNIRTLDTPFRKNCSFSTPVPLSLGKLLPYEPENY
                     PYQLGEISSLPCPGGRLGGGGGRMTPF"
     misc_feature    116..241
                     /gene="SPAG8"
                     /gene_synonym="BS-84; CILD28; CT142; HSD-1; hSMP-1; SMP1;
                     SPAG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99932.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    338..412
                     /gene="SPAG8"
                     /gene_synonym="BS-84; CILD28; CT142; HSD-1; hSMP-1; SMP1;
                     SPAG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99932.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    494..760
                     /gene="SPAG8"
                     /gene_synonym="BS-84; CILD28; CT142; HSD-1; hSMP-1; SMP1;
                     SPAG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99932.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1675..1680
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPAG8"
                     /gene_synonym="BS-84; CILD28; CT142; HSD-1; hSMP-1; SMP1;
                     SPAG3"
                     /note="hexamer: CATAAA"
     polyA_site      1699
                     /gene="SPAG8"
                     /gene_synonym="BS-84; CILD28; CT142; HSD-1; hSMP-1; SMP1;
                     SPAG3"
                     /note="major polyA site"
ORIGIN
        1 gccccgcaga ggacttgcct ccaccgccac ctgcaagtcc gcccagctgt acttctgcgc
       61 aggctccagg agttgtttgc tgtctctatg gcaacccagt agctggagtc tgaagatgga
      121 gaccaacgag tctacggagg gatcgcggtc gcggtcgcga tctttagaca tacagcccag
      181 ctccgaagga ctggggccca cttcggaacc gtttccttct tcagatgaca gtcccaggtc
      241 ggccctggca gctgcaaccg cagcagctgc agcggctgca tcagctgctg cagctactgc
      301 agccttcacc actgccaaag cagctgcatt atctacaaag accccagcgc cctgttctga
      361 gttcatggag ccgtcctctg accccagcct tcttggggag ccctgtgcgg gacccggctt
      421 tacccacaat atagcccatg ggagtcttgg ctttgagccc gtctatgttt cctgtattgc
      481 tcaggacact tgcactacaa ctgaccatag ttctaatcct ggccctgttc caggctctag
      541 ctctgggcct gttcttggtt ccagctcagg tgctggccat ggctctggct ctggctctgg
      601 tcctggctgt ggctctgtcc ctggctctgg ctctggtcct ggtcctggct ctggtcctgg
      661 ctctggtcct ggtcatggct ctggctctca tcctggtcct gcctctgggc ctggtccaga
      721 cactggccct gactctgagc tcagcccctg tattcctcca gggttcagaa acctggtggc
      781 agatcgggtc cctaactata cctcctggag tcagcactgc ccctgggagc cccagaaaca
      841 accaccttgg gaatttttgc aagtcttaga accgggtgcc cgaggactat ggaaaccccc
      901 agacattaaa gggaagctta tggtttgcta tgaaactttg ccgcggggcc agtgcctcct
      961 ctacaactgg gaggaagaga gagccaccaa ccacctggat caagtcccaa gcatgcagga
     1021 tggctctgag agttttttct tccgacacgg acaccgggga ctgctgacta tgcaactaaa
     1081 gtcacccatg ccctccagca ccacccagaa agactcgtac cagccaccag gaaacgtcta
     1141 ttggccactt cgagggaagc gtgaagccat gctggagatg ctcctgcagc atcagatctg
     1201 taaagaggtg caggcagaac aggaacccac aaggaagctc ttcgaggttg agtctgtgac
     1261 acaccatgac taccgaatgg agctggcaca agcagggact cctgccccaa caaagcctca
     1321 cgactaccgc caggagcaac ctgagacctt ctggatacag agggcaccac agctgccggg
     1381 tgtcagtaac atcaggacat tggacacacc attccggaag aactgcagct tctcaacacc
     1441 agtacccttg tctctgggga aacttttgcc ctatgaacct gagaattacc cctaccaatt
     1501 gggagaaata tcttcccttc cctgtcccgg aggaaggctg ggtggtggag gggggagaat
     1561 gactcctttc tgaggggtga ggagggaagt ggggtatgga atatggaatc tatttctgtc
     1621 tgcactagag aggtcgggag gaagttaatt ctcactgtac ttgaagaggc tttacataaa
     1681 gggttctctc tcatcccaag actgctaatt tagtga
//
LOCUS       NM_001039613            2176 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens isoamyl acetate hydrolyzing esterase 1 (putative)
            (IAH1), transcript variant 1, mRNA.
ACCESSION   NM_001039613
VERSION     NM_001039613.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2176)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2176)
  AUTHORS   Kobayashi M, Suzuki M, Ohno T, Tsuzuki K, Taguchi C, Tateishi S,
            Kawada T, Kim YI, Murai A and Horio F.
  TITLE     Detection of differentially expressed candidate genes for a fatty
            liver QTL on mouse chromosome 12
  JOURNAL   BMC Genet 17 (1), 73 (2016)
   PUBMED   27266874
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2176)
  AUTHORS   Seppala I, Kleber ME, Lyytikainen LP, Hernesniemi JA, Makela KM,
            Oksala N, Laaksonen R, Pilz S, Tomaschitz A, Silbernagel G, Boehm
            BO, Grammer TB, Koskinen T, Juonala M, Hutri-Kahonen N, Alfthan G,
            Viikari JS, Kahonen M, Raitakari OT, Marz W, Meinitzer A and
            Lehtimaki T.
  CONSRTM   AtheroRemo Consortium
  TITLE     Genome-wide association study on dimethylarginines reveals novel
            AGXT2 variants associated with heart rate variability but not with
            overall mortality
  JOURNAL   Eur Heart J 35 (8), 524-531 (2014)
   PUBMED   24159190
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.323360.1,
            SRR1660803.239358.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000497473.6/ ENSP00000417580.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC111025.1, AA761915.1 and AC080162.7.
            On May 17, 2019 this sequence version replaced NM_001039613.2.
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2176
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.1"
     gene            1..2176
                     /gene="IAH1"
                     /note="isoamyl acetate hydrolyzing esterase 1 (putative)"
                     /db_xref="GeneID:285148"
                     /db_xref="HGNC:HGNC:27696"
     CDS             17..763
                     /gene="IAH1"
                     /note="isoform a is encoded by transcript variant 1;
                     testicular tissue protein Li 92; isoamyl
                     acetate-hydrolyzing esterase 1 homolog"
                     /codon_start=1
                     /product="isoamyl acetate-hydrolyzing esterase 1 homolog
                     isoform a"
                     /protein_id="NP_001034702.1"
                     /db_xref="CCDS:CCDS42651.1"
                     /db_xref="GeneID:285148"
                     /db_xref="HGNC:HGNC:27696"
                     /translation="MALCEAAGCGSALLWPRLLLFGDSITQFSFQQGGWGASLADRLVR
                     KCDVLNRGFSGYNTRWAKIILPRLIRKGNSLDIPVAVTIFFGANDSALKDENPKQHIPL
                     EEYAANLKSMVQYLKSVDIPENRVILITPTPLCETAWEEQCIIQGCKLNRLNSVVGEYA
                     NACLQVAQDCGTDVLDLWTLMQDSQDFSSYLSDGLHLSPKGNEFLFSHLWPLIEKKVSS
                     LPLLLPYWRDVAEAKPELSLLGDGDH"
     misc_feature    182..184
                     /gene="IAH1"
                     /note="Transition state stabilizer.
                     /evidence=ECO:0000250|UniProtKB:P41734; propagated from
                     UniProtKB/Swiss-Prot (Q2TAA2.1); other site"
     misc_feature    281..283
                     /gene="IAH1"
                     /note="Transition state stabilizer.
                     /evidence=ECO:0000250|UniProtKB:P41734; propagated from
                     UniProtKB/Swiss-Prot (Q2TAA2.1); other site"
     regulatory      872..877
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IAH1"
                     /note="hexamer: AATAAA"
     polyA_site      901
                     /gene="IAH1"
                     /note="major polyA site"
     regulatory      1037..1042
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IAH1"
                     /note="hexamer: TATAAA"
     polyA_site      1044
                     /gene="IAH1"
     polyA_site      1058
                     /gene="IAH1"
     regulatory      1441..1446
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IAH1"
                     /note="hexamer: AATAAA"
     polyA_site      1463
                     /gene="IAH1"
ORIGIN
        1 cccgcccggc tgctccatgg cgctgtgcga ggccgcgggc tgcgggagtg ccctgctctg
       61 gcctcgcttg ttgctcttcg gggactccat cacccagttt tccttccagc agggtggatg
      121 gggagcatcg ctggctgaca ggctggtcag aaaatgtgat gttctgaatc gtggattttc
      181 aggttacaat accaggtggg ccaaaattat ccttccaaga ttaatcagga aaggaaacag
      241 tttggacatc ccagtagcag ttacaatttt ctttggggcc aatgacagtg cactaaaaga
      301 tgagaatccc aagcagcaca ttcccctgga ggagtacgct gcgaacctaa agagcatggt
      361 gcagtacctg aagtccgtgg acatccctga gaatcgagtc attctcatca cgccgacccc
      421 actttgtgaa acagcctggg aagaacagtg catcatacaa ggttgcaaac taaatcgcct
      481 gaactctgtt gttggtgaat atgccaatgc gtgtttacaa gtggcccaag actgtgggac
      541 tgacgtactt gacctgtgga ccctgatgca ggacagccag gacttctcat cttatttatc
      601 agatggacta catttgtctc caaaggggaa tgaatttttg ttctcgcatc tctggccttt
      661 gatagagaaa aaggtctctt ctctaccttt gctgcttcct tactggcggg atgtagcaga
      721 agcaaaacct gaattaagtc tgctgggaga tggagaccat tagccaatca caggagaccc
      781 aaatctgctt gttatctaca gaactcaaag ttgtcaatac gtagaggtac gcttttttcc
      841 tcaggcttaa acctttgcca ctgatattaa taataaaagt attagatgat ttttcaggga
      901 agttttatac ttaggtccat tgtgtttcga cagtatttat taatgcagat atcagtgcta
      961 cagctataaa atataccctg agcagcttgt taattctata aatgacaaag actatgtttt
     1021 taaaaagtca caattttata aaaatggttt ttcttacatt cttttgagaa ctgtttcact
     1081 catacataca cccacacacc ccactcaacc ttgtatcaaa ttccaaaagt gtaactaaag
     1141 tataagaata tcatgactag ttaaaagata gcaaatacca taaggtacaa gttcaagtat
     1201 tagtataaca agtatctgag taacaaatgt ccttggaaat ggggggtagg aggagatatg
     1261 attagtcaca ggtttggtta actgccctca aaatttacaa gttaaaatgt tttggctggt
     1321 gagcacattt cagttcttag gggaaaaaaa gcttttaatg gcaatttata gaaatcagaa
     1381 tccaggctaa tgatttttat ccttcacaca gtaaatgcag cccatccaga atcctggagc
     1441 aataaagtaa gaagtaattc aaatatctgc ttgtgggtca ataaaaaggg tttctgaagt
     1501 atcaagtctt gtggggacag cccccaaccc taagggcagg tagtattcta tctcctggct
     1561 ggctcatcac attcaaaaca acctgttttt tttgttgttg ttgttgttaa gaaatatctc
     1621 accctcttat tcaatagtgt ttgaaaacag gcaatctttg tattttaaat attctaggtt
     1681 tgtagatagt gaattttttt tttttttttt tttttttgag gcagagtctc actctgtcac
     1741 ccaggctgga gtgtagtggc gcaacctcag cctctccaag tgctgggatt acaggcatga
     1801 gccaccactc ccagccaata gtgaattttc taagagcatg tatccctatc agtaacaggg
     1861 atacatgaag atacttataa aatacagaaa aactgcccag caaatcaggg ccctaaacag
     1921 ttggtagatt ccataaattc aactggctac catgtatagc cctcactgta aggtaggtgg
     1981 ttaggtttct agagagcatt agtcttagaa ttatgaagag ccatattaac ccaaatgatt
     2041 tctaaattta gatatatatt ttccctgcta cataaaaact ctgggtaata actagaaata
     2101 gacccacaat ttagagacaa tgtatactag atttatctcc tttgttttta gttgaaggca
     2161 aaaaaaaaaa aaaaaa
//
LOCUS       NM_001039614            7150 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens inhibitory synaptic factor 1 (INSYN1), transcript
            variant 1, mRNA.
ACCESSION   NM_001039614
VERSION     NM_001039614.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7150)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 7150)
  AUTHORS   Uezu A, Kanak DJ, Bradshaw TW, Soderblom EJ, Catavero CM, Burette
            AC, Weinberg RJ and Soderling SH.
  TITLE     Identification of an elaborate complex mediating postsynaptic
            inhibition
  JOURNAL   Science 353 (6304), 1123-1129 (2016)
   PUBMED   27609886
REFERENCE   3  (bases 1 to 7150)
  AUTHORS   Delgado AP, Brandao P, Chapado MJ, Hamid S and Narayanan R.
  TITLE     Open reading frames associated with cancer in the dark matter of the
            human genome
  JOURNAL   Cancer Genomics Proteomics 11 (4), 201-213 (2014)
   PUBMED   25048349
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279843.9025.1, SRR13170464.40521.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000569673.3/ ENSP00000457205.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022188.13.
            On or before Jun 16, 2020 this sequence version replaced
            XM_005254369.4, NM_001039614.2.
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7150
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     gene            1..7150
                     /gene="INSYN1"
                     /gene_synonym="C15orf59"
                     /note="inhibitory synaptic factor 1"
                     /db_xref="GeneID:388135"
                     /db_xref="HGNC:HGNC:33753"
                     /db_xref="MIM:617128"
     misc_feature    1804..1806
                     /gene="INSYN1"
                     /gene_synonym="C15orf59"
                     /note="upstream in-frame stop codon"
     CDS             1810..2691
                     /gene="INSYN1"
                     /gene_synonym="C15orf59"
                     /note="isoform 1 is encoded by transcript variant 1;
                     UPF0583 protein C15orf59; inhibitory synaptic protein 1"
                     /codon_start=1
                     /product="inhibitory synaptic factor 1 isoform 1"
                     /protein_id="NP_001034703.1"
                     /db_xref="CCDS:CCDS32289.1"
                     /db_xref="GeneID:388135"
                     /db_xref="HGNC:HGNC:33753"
                     /db_xref="MIM:617128"
                     /translation="MNIRGAPDLGQPSDDPSSGGERERIRQRMKMVIGQLEGILRELKE
                     VAKELREVVSQIDKLTSDFDFELEPDDWTTATVSSTSSSDKAGMGGPFDLGHLDFMTAD
                     ILSDSWEFCSFLDVSTPSDSVDGPESTRPGAGPDYRLMNGGTPIPNGPRVETPDSSSEE
                     AFGAGPTVKSQLPQRTPGTRERVRFSDKVLYHALCCDDEEGDGEQEVEEEEVGLPPEPA
                     HTEAHAGPHKPSPAPYKSRRSPLTSRHSGSTLAPEQTRRVTRNSSTQTVSDKSTQTVLP
                     YTATRQKARGKN"
     misc_feature    1810..1887
                     /gene="INSYN1"
                     /gene_synonym="C15orf59"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2T9L4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2167..2367
                     /gene="INSYN1"
                     /gene_synonym="C15orf59"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2T9L4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2407..2688
                     /gene="INSYN1"
                     /gene_synonym="C15orf59"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2T9L4.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2788..2793
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSYN1"
                     /gene_synonym="C15orf59"
                     /note="hexamer: AATAAA"
     polyA_site      2811
                     /gene="INSYN1"
                     /gene_synonym="C15orf59"
                     /note="major polyA site"
     regulatory      7130..7135
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSYN1"
                     /gene_synonym="C15orf59"
                     /note="hexamer: AATAAA"
     polyA_site      7150
                     /gene="INSYN1"
                     /gene_synonym="C15orf59"
                     /note="major polyA site"
ORIGIN
        1 ggccccttcc ctgacagcgc cgaggcaagc ggagccaagc gagccgggcg gcctttaagg
       61 gagccagcgc ccgcccgggc ggccagtccg gcggggggcg gcggggcggg ccgggggcgg
      121 ccggggcgcg ggcggcgcgg cgccgcggcg cttggggagc gggcccaggc cccgggagcc
      181 cggcggggca gggcagggcg aggcggtgaa gggaggccca gccccgaccc ggcgcctgtt
      241 tgccccaccg gcggcgaccc ggcgcccggg ggctgctgag gcggggagcc gagagcgaac
      301 ggacgggagg tagcggagcc gagcggaggc tgcgagccta gtgcgccccg gcccggcccg
      361 gcccgccgct cgccccctcc cctcccttcc cctcgccgcg cctcctcccc tcgcctcttc
      421 tcgcctcctc tcctctcctc cgcccggcgc tgctcccgcc tgcgcccggg ccgccgaacc
      481 cagcccggcc ggggcccccg gcttcgcgcg ctctcggctg ggcccggcgg ggaccgggtc
      541 cccgcggctg acatcgcccc tcctcgggga cccggtggat tccggacctt tcggaacgtg
      601 aactgagccg tgggagcggt ctcgcccagg gccgaccgcg gggctgggct gagcagaccc
      661 tcgcggccgc tccggacgcc gcgggtgccg gggcacggac gttctgggtc cgggctgagc
      721 gcgtcccggg cgcccggcgg tgccagctca ctccgggcgg ggtagggcag ggcagacccc
      781 agcggaacac ggacccggcc gatctggact ggacagagcg aatcccggac ggtgcagagc
      841 ccggggaatg ccgggcgtgg gctgagggga tcccggcgcc ctcccagccc tccgactttg
      901 gctcacgcgc tgggacctgc ccggcgtctc ctcggcctcc ccgcgccccg gtcacctgtg
      961 gcctcggagc cccaaatctg ccggaccctc gctcattccc gaccccgagc ctggagaggc
     1021 ttgagaaaga tttttcctgc ccccttccct ggagcgcgga ggccccgccc cctcccaccg
     1081 cccagatgtc tccggtcacg gctcggagga cctccctgag gcccggggcc gaagggtcca
     1141 gagagagaag cccgccctag ggagccttgg gggcccccca actccgtctt ggggcttggc
     1201 ccccgacgct gcttggaggg aaggccggtg cccccaccct cgggggctgc cctcttccaa
     1261 tccagctccc tccccagagc tgcccatatc cggagcccct tccacatctg gaagaccctg
     1321 gccaccatcc ctctgcaggt gtcagttgca tccagagacc tctgcctttg caactgccta
     1381 ggagttgtga ggggatccct gctgccttcc cccatcccaa gggcatctct tacccttagt
     1441 ccctgcagag tcatccccct gcctctgtgt tcaagctcag gcagagatca gctctgcaca
     1501 cccacaggca cttcaagacc tggaggccac tcctgggacc caaggtccct ccccctcctc
     1561 tcctgtgtcc tcaccttgac cccctctgct agactctgtc tccctctggg tgtcccactc
     1621 tccacccaga ggcagaggag gctgggtggc agggggcagg ggctggttga gggccgccca
     1681 gggccagggt gggctggggg gccgttaaaa tgtggagctc tgcccagccg aggggggctc
     1741 cgtggaggca gacgcagtgt gtgcccagct ggggggagta tgggcaggcc tgcggccacg
     1801 tggtaaacga tgaacattcg gggcgccccg gacctcgggc agcccagtga cgaccccagc
     1861 agtggtggtg agcgggagcg gattcgacag cgcatgaaga tggtcatcgg gcagcttgag
     1921 ggcatccttc gcgagctcaa ggaggtggcc aaggagctga gggaggtggt gagccagatc
     1981 gataagctaa cctcggactt cgactttgaa ctggagccgg acgactggac cacggccact
     2041 gtgagcagca cctctagcag tgacaaggcg ggcatgggtg gcccctttga cctgggccac
     2101 ctggacttca tgacagccga tatcctctca gacagctggg agttctgctc cttcctggac
     2161 gtctctaccc cctcggactc cgtggatggt cccgagtcga ctcggccagg ggctggccct
     2221 gactaccgcc tcatgaatgg tggcacgccc atccccaatg ggccacgagt ggagacccca
     2281 gactcctcca gtgaggaggc ctttggtgct ggccccacgg tgaagagcca gctgccccag
     2341 cggaccccag ggacacggga gagggtgcgg ttcagtgaca aagtgctcta ccatgctctg
     2401 tgctgtgacg atgaggaggg ggacggtgag caggaggtgg aggaggaaga agtgggcttg
     2461 ccccctgagc ctgcccatac agaggcccat gcaggccccc acaagccctc cccagccccc
     2521 tacaagtcac ggcgctctcc actgaccagc cgccactcag gctctacctt ggcccctgaa
     2581 cagactcgaa gggtcacgag gaacagcagc acccagacag tgtcagacaa gagcacgcag
     2641 acggttctgc cctacacagc cactagacag aaagccaggg ggaaaaacta ggggccgggg
     2701 agggggccgg gggcggtggg cacatagagc tataaataaa tatatatata tatatatata
     2761 tatatatatt taaacaaatg aagtcataat aaaatttaaa aatgctaagg atctggcccc
     2821 acaggcccca aagctttcac agagctcctc ttagacatga agatgcccat tggcctccta
     2881 ggtcccagga ggtgtgggca ggactgccct tcctccgttc tcattgcggg gctcctgaag
     2941 ggggtatctg aaagtatgta aaactgatgg gaggtctgat cctccttttg ctagcccctg
     3001 aactctgtgg tggagtctgg ctgatggcca gggccatgtc ctagagggga ctcccctgca
     3061 ggaggcgggc tctaaaggga gtggtgtccc tttaggccag ggttcacagt cggggtggtc
     3121 tggagactgc aggactcagg gcctgggggt ggcatcagtc tggccaggcc ctgcgtcact
     3181 tgcacccacc atccttctac tccaaggcag acttactcgg ctatacacag tcctgcctca
     3241 cccccttcca tcttagggtt gcctgggaca taggggaatg gcaagctgct cccatggcgc
     3301 aggcctccgt gctgggatgc tgggcatcca cagagcctga aggatcgcct gggctgggca
     3361 ggggtttgat tggagggtct ggaccacccc caatcctttc agctcccatt ctcagcctga
     3421 ttctgagacc aagaccaaaa cctcagggca aagcctcagc cagtcctggc gtggccctaa
     3481 gcagacctga gatctgtgcg aggaagtagg cagccacttc catggggcta aaaattaggg
     3541 ccgtagacag gctcctggcc accttcacca ggtgggcagc cttggaaagg agcccagtgg
     3601 tccccactcc gtcccgatgt ctccacaccc agcccctgag cccatctcag caggtcctga
     3661 acaaagatga ggttacagcc tagaggtacc agggcttcat ctggggcatg gccagcacag
     3721 ggacagcagc tgaatatcct tgggataata atgacaatta tattgctcac atttattgag
     3781 caggtctcta tgctacttct atgccgaata ctttttatag cagcatctca tttaatcacc
     3841 acaataacct gatgagacag gaagtattat taccccattt ttctttttct ttctttcttt
     3901 ttttattttt atttttttta tttttgagat ggagtctcgc tctgtcaccc aggctggagt
     3961 gcagtggggc gatcttggct cactgcaacc tccacctgcc aggttcaagc aattctccca
     4021 cttcagcctc cagagcaact gggactacag gcatgcgtca ccacgcctag ctaatttttg
     4081 tatttttagt agagacgggg tttcaccatg ttgggcaggc tggtctgaac tcctgacctc
     4141 aagtgattcg tcagcctcag cctcccaaag tcccgggatt acaggcgtga gccactgtgc
     4201 ccccacctat ccccattttt caaatgagat gactgaggtt caaagtagtt cagtacctgc
     4261 cccaaagcca caaagcctgt gctactctgc ccccaagaat tagtgatttc caggctgtgc
     4321 ctggctctgc tagctagcag ctgtgtgacc ttggcaagtc cgtttgcctc tctgagccta
     4381 tctacctcct ctgtataatg ggtctggtag tcttcaccta cctcaccagc tgctgtggag
     4441 ctccgacgag atggtgactg tgaaagcact tgacaaactg aaggcactgg acatgccttg
     4501 tggtcagtgt ggcctcaacc cagatgtcca gtgatttcca gggcacaggg gctttgagtg
     4561 ggatggccaa agaagacacc tccatccaac tgggagccac ccctgggtca caaacactcc
     4621 attgcttggt ccctcgcagt agctcgaggt cagaagttga ctgcagcttg attcacagcc
     4681 cctcgctcag agcagggagg tgggactggc agcacagcaa agacatcgct ccttgggggc
     4741 ctccctgttg catatttcaa ttaaggcagg tttacagccc cccagcgtct gtccggaggg
     4801 ggcctgagca gcaggcctgg cagcacccac tgctcctgcc tgaagaggtg ctatccagcc
     4861 ccggctgtgg acatacagtg agattgtaca ggccggtctg gagcagctgc aggggatatg
     4921 atctggataa gactgagcag acctaggagg ctctgcaatg tagagcttat tcctcaagct
     4981 catggtgaga ttggagccct aaagagttag ccagggtgca gccaccagtg tggaaatcca
     5041 gggatggcgc aggccatggc cagctcttcc cagctcacgt ctgagaacca agggtctgag
     5101 cccctctatc agccccagga aatcctcagc catttggtgc tgatcagcga tagggctctg
     5161 gttcacagga tgagtgccag gggctcctct ggggagaggg gccagctgca ttccgcccca
     5221 ccctgagagt gagaaggggg cagtccccga ccaggaatgg gcctacctgg tgctaagaat
     5281 ggacataaca gttctccctc tgaggcttgc atttcatctg tcatggcaag agcactttca
     5341 ggctcacagt ttctcatctt ttcaacagtc agggaaaaga aacctatgga atagttcgca
     5401 tttcacagag gaagaaactg agggccagag ctaggggtct ctgacacagc catgggatcc
     5461 tgcaccccac actggctcta tgtgactctg tagtagtggc taatgtccat cagtcgcccc
     5521 ctgctcccct gcctggccat ttgcccccaa atagggcagt ggtgggagta tatcctggag
     5581 gagggggaag tgggatatag gtagtacttg gctgacttca caattttgct acacccagtc
     5641 tggacctcct gacagtggag tgggatccct gtggcttcct ttttcttgtt tttgttttgt
     5701 tttgtttttt tttagatgga gtctccctct atcatccagg ctggagtgca atggtgcgat
     5761 ttcagctcac tgcaacttcc acctcccagg ttcaaacaat tctcctgtct cagccacctg
     5821 agtagcttgg actacaggca cccgccacca ccccagctac taagttttgt atttttagta
     5881 gagatggggt ttcaccacat ggccaggatg gtcttgatct cttgactttg tgatctgccc
     5941 accttggcct cgcaaagcac tgggattaca ggcgtgggcc actacgcctg gccaattttt
     6001 ttttgttttg tttttttgag atggagtctt gctccatctc ccaggctgga gagcaatggc
     6061 gtgatctcag ctcactgcaa cctctgcctc ctgggttcaa gcgattctcc tgcctcagcc
     6121 tcccaagtag ctgggattac aggcacccac catcatgccc gggttaattt ttgtattttc
     6181 ttagagatgg agtttcacta tgttggccag cctcatcttt gaactcctga cctccgatga
     6241 tccacctgcc ttggcctccc aaagtgatgg gattacaggc gtgagccacc gcacctggcc
     6301 ccagtggctt cttcagactt gaaacacaaa atgtggccag ctagggatag agagaattct
     6361 gactttcaac actgctgagt catggcatgg gctgcttctg ggtagtgagc tccctgtcct
     6421 tggggtagac acagccatcc cttgggtcct tcctccagac cttccaggta cagccctttg
     6481 ctgctcttcc ctgcctccaa acctttgcca gtttttgagt ttctttaccc aggatgttcc
     6541 atcagatctc tctgcttccg ggaagtccta ttccactgac cacctactgt gtgcacaggc
     6601 ttgtgctgag tggtgctgtg gaggggcaga agggagctgg aacctggtga tggagagaag
     6661 tcatagcatg atgaataact catgtccact gggcacgtgc taggcactgg gcattgttct
     6721 aagtgtatgt cttatctcat ttactcctca cagcacgtat gagataagca atcttactta
     6781 tgtctaagta gcttccagat gaggaaactg aggctctggg aagtgaagta acttgcctaa
     6841 ggaaacacag gatgggctat ggaaccagga ttcaaccaca aacacagtga cttagcatca
     6901 tctactgcaa acatccactg cagttaaaat gcctggagtg ggtggcctgg tcactggagg
     6961 tgagggtcgg ggctgggtcg tctgagagcc aggcgggtct tcggggtgag gggagtgttg
     7021 gggtgaggaa acatgtgaac atgcctcagt ctttggagaa cttagttact gttaacctga
     7081 atgtcaccac ccctgactcg gagactggca ccaaatggat tatgggttca ataaatgttt
     7141 gttgaatgaa
//
LOCUS       NM_001039615            3683 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens zinc finger protein 705D (ZNF705D), mRNA.
ACCESSION   NM_001039615
VERSION     NM_001039615.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3683)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000400085.8/ ENSP00000382957.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC130366.6.
            On Jun 28, 2007 this sequence version replaced NM_001039615.2.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3683
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..3683
                     /gene="ZNF705D"
                     /gene_synonym="ZNF705C"
                     /note="zinc finger protein 705D"
                     /db_xref="GeneID:728957"
                     /db_xref="HGNC:HGNC:33202"
     misc_feature    366..368
                     /gene="ZNF705D"
                     /gene_synonym="ZNF705C"
                     /note="upstream in-frame stop codon"
     CDS             423..1325
                     /gene="ZNF705D"
                     /gene_synonym="ZNF705C"
                     /note="zinc finger protein 705C; putative zinc finger
                     protein 705C"
                     /codon_start=1
                     /product="zinc finger protein 705D"
                     /protein_id="NP_001034704.2"
                     /db_xref="CCDS:CCDS43712.1"
                     /db_xref="GeneID:728957"
                     /db_xref="HGNC:HGNC:33202"
                     /translation="MHSLEKVTFEDVAIDFTQEEWDMMDTSKRKLYRDVMLENISHLVS
                     LGYQISKSYIILQLEQGKELWREGRVFLQDQNPDRESALKKKHMISMHPIIRKDASTSM
                     TMENSLILEDPFEYNDSGEDCTHSSTITQCLLTHSGKKPCVSKQCGKSLRNLLSPKPRK
                     QIHTKGKSYQCNLCEKAYTNCFYLRRHKMTHTGERPYACHLCGKAFTQCSHLRRHEKTH
                     TGERPYKCHQCGKAFIQSFNLRRHERTHLGQKCYECDKSGKAFSQSSGFRGNKIIHIGE
                     KPHACLLCGKAFSLSSDLR"
ORIGIN
        1 ctgtgggaag tttgttcttt cgctttttgc aacatagctt gctgctgctc actctttggt
       61 ttcgtgccgc ctttaagcgc tgtaacactc actgcgaagg tctgcaactt cacttctgag
      121 gccagccaga ccatgaaccc actgggagga ataagcaact ctggacacac catctttaag
      181 aattgttaac actcaccagg agggtctgcg gcttcattct taaactcagc gagaccaaga
      241 acccaccaat tccggacact gtggagaggg accagtggtg ggcagggctc cagaactcca
      301 aagatcattt tctcaagcaa tttttaaatt tcattctttt accctattga gcttttctta
      361 gtgcctaaag tgtctgcaag tggaaatcca gaggaagaca gagagaaact gagttcctga
      421 caatgcattc actagagaaa gtgacttttg aagatgtagc tattgacttc acccaggaag
      481 agtgggacat gatggacaca tccaagagaa agctgtacag agatgtgatg ctggaaaata
      541 tcagtcacct ggtgtccctc gggtaccaga taagcaaatc ctatataatt ttgcagctgg
      601 agcaaggaaa agagctgtgg cgggaaggaa gagtatttct tcaagaccag aatccagaca
      661 gggaaagtgc ccttaagaaa aaacacatga tatccatgca tcctatcatc agaaaagacg
      721 catccaccag tatgacaatg gagaactctc tcattctgga ggatcctttt gaatataatg
      781 attcgggaga agattgcact cacagttcca caataactca gtgtttgtta actcacagtg
      841 gaaagaaacc ctgtgtcagc aaacagtgtg gaaaatccct tcgtaatctt ttgtccccta
      901 aaccacgtaa acaaattcat actaaaggta aatcatatca atgtaatcta tgtgaaaagg
      961 cctatactaa ttgcttttac cttagacggc acaagatgac tcacactgga gagaggccat
     1021 atgcatgtca tctatgtgga aaagccttca ctcagtgttc tcaccttaga agacatgaga
     1081 aaactcacac gggagagaga ccatataagt gtcatcaatg tgggaaagcc tttattcaat
     1141 cctttaacct tcgaagacat gagagaactc accttggaca aaagtgttat gaatgtgata
     1201 aaagtgggaa agcctttagt caaagctctg gctttagagg aaacaaaata attcacattg
     1261 gagagaaacc acatgcttgt cttctatgtg ggaaggcctt cagtctgtcc tccgacctta
     1321 gatgacatga gagaacacgc actggagaaa agccatatga atgccattta tgtgggaaag
     1381 ccttcagtca atgtactaat cttaaaaagc atcagaaaat tcaccctgga gagaaaatta
     1441 taaacttctt cagaacatat tctgacttta gatgacacag tgttaggaat gacgaaggta
     1501 aggaatgtgg aagagacttc agctgtagtt gtagcatcta aacatgccaa aggactcaca
     1561 ttttgaagaa atactgtaat caacatggaa gatacttcag ttgcctttat tcttcagccc
     1621 acatcaataa attcatatgg aagagaaatt gtatgacatg tatgtaccaa agacttgtta
     1681 gtgatctgag cataaatgac atgagagagc tgaaactgtc agcataatca actaaaagtc
     1741 ttcagcaaca gctttaactt aaaacatgtg ggactttcag gtagagaatc tctaactctg
     1801 cattcagtgt gaaaatgttt ttatttgcaa tttattgtca aataacatga gaaaacttta
     1861 cttggatgaa ccctttattt gtatttttct gtgaatgaac attcagccaa gcaccaggct
     1921 tgatgttcac aagagaagag tgacaaaatg ctgctaaaat ggaaaataag agaggaaagc
     1981 cttcataagc taaataacaa gggaaagtct ttccaagggc aatgaattct cttggaatac
     2041 caaatacttc ttactggaga agttatgcaa tgaaaaatca tgagaaatcc tttcttcata
     2101 gagcaacaca tgtggcacat gtgagatttc acactggaca aaacagggtt agcatcttga
     2161 aagaagaaaa ttctttagtg gtaattcatt tcttagttga cattaagttt ctcacgttga
     2221 ggagctatca aacttgaaaa tcactgtgga gaaacctgat agatttctca tcagaaaagt
     2281 gagtcaagaa ggtggacctc tagaaaaaac tcttaacaca tactttagca aaataattca
     2341 gaaatttgag aaaatatcta ttcataaaaa tgtggcatgt aaatgcataa tagcaaagtg
     2401 accaaggaat aaattgaatg cagaattata taagaaatct cattaaactt ttccaaaaga
     2461 ccaatactta caaatattga aagaatacaa tctgttgttg aaaaaactta gtatgttggt
     2521 gaagcccttg tttcatttat gcagccctaa caaactgatt tgcatctgaa ctccttgggt
     2581 gagattcttg gtggagattc taccccaact tctgagtctc cccagtcttc aacagctctt
     2641 tcctcacagc tcacctccct ttacttcaac gtccaccaaa accacttgtt tccatccaac
     2701 cctcgagttg acacaccagg gatcttcagc cccacttgct agatttctca gtttgtcatt
     2761 gcatagattt agcagggaaa tggaggctgt atcaaagacc cctagtatat gcatttgggt
     2821 gtccccagct cttgcctctg tctctgagca gttacctggg atcagagaat aaggcagctc
     2881 ttctcttcta tccctcagaa ggctcttgaa attttgtccc tggagcctct ctaactggaa
     2941 gtagcagttc atctcatgac accccacatt ttattcaggt gagtcctgag ttattacaca
     3001 gagacagaca cagctgtgct ccttttactg cagtccagaa gataaaacac cagcatgata
     3061 aaacagccga acctgtcagc caccttgcaa gccttttcta tatttgattc aatgtacttt
     3121 tcccgaagca aaatgaaagt tctcacagag gggccctcct ctgccttgtc ctcagaattg
     3181 gaaaatgtat tgtccgtgaa ggagcctcac cactgaacct aaaactcaag agaaaatgtt
     3241 tcctgaatat caagtgggat gacttgaaat tttgtcaaac aggcagaatc ttaatacgat
     3301 cggccttact aaggctaaat ggccttatcc atggttgaaa ttgacacatc atcatattaa
     3361 aaaatctcca cgagtgattg attttactct gcagccaggg tttatgtcaa gtgtgaggat
     3421 aatgagcaag aaattcaagc ccttggcaaa ctggttggag aggcaaggac tgtgtccagg
     3481 cagagctcat atcattattt attgtttaat ctatttaatt aaatatgtaa tttacccaca
     3541 aactgtggct gacattatat gtactcctga gccacattaa gatgtactat ttgtgctgtg
     3601 aaattctatg ggatttgaca aatgcatggt ggcagatctc cagcgattat taaagcgtaa
     3661 cacagaatgc ttctcttatt caa
//
LOCUS       NM_001039617            1308 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger DHHC-type palmitoyltransferase 19
            (ZDHHC19), transcript variant 1, mRNA.
ACCESSION   NM_001039617
VERSION     NM_001039617.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1308)
  AUTHORS   Liang S, Zhang X and Li J.
  TITLE     Zinc finger Asp-His-His-Cys palmitoyl -acyltransferase 19
            accelerates tumor progression through wnt/beta-catenin pathway and
            is upregulated by miR-940 in osteosarcoma
  JOURNAL   Bioengineered 13 (3), 7367-7379 (2022)
   PUBMED   35297315
  REMARK    GeneRIF: Zinc finger Asp-His-His-Cys palmitoyl -acyltransferase 19
            accelerates tumor progression through wnt/beta-catenin pathway and
            is upregulated by miR-940 in osteosarcoma.
REFERENCE   2  (bases 1 to 1308)
  AUTHORS   Zhang N, Zhao H and Zhang L.
  TITLE     Fatty Acid Synthase Promotes the Palmitoylation of Chikungunya Virus
            nsP1
  JOURNAL   J Virol 93 (3), e01747-18 (2019)
   PUBMED   30404808
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1308)
  AUTHORS   Petrovski S, Fellay J, Shianna KV, Carpenetti N, Kumwenda J, Kamanga
            G, Kamwendo DD, Letvin NL, McMichael AJ, Haynes BF, Cohen MS and
            Goldstein DB.
  CONSRTM   Center for HIV/AIDS Vaccine Immunology
  TITLE     Common human genetic variants and HIV-1 susceptibility: a
            genome-wide survey in a homogeneous African population
  JOURNAL   AIDS 25 (4), 513-518 (2011)
   PUBMED   21160409
REFERENCE   4  (bases 1 to 1308)
  AUTHORS   Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura
            Y and Kamatani N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   5  (bases 1 to 1308)
  AUTHORS   Baumgart F, Corral-Escariz M, Perez-Gil J and Rodriguez-Crespo I.
  TITLE     Palmitoylation of R-Ras by human DHHC19, a palmitoyl transferase
            with a CaaX box
  JOURNAL   Biochim Biophys Acta 1798 (3), 592-604 (2010)
   PUBMED   20074548
  REMARK    GeneRIF: The increased palmitoylation of R-Ras cotransfected with
            DHHC19 is accompanied by an augmented association with membranes as
            well as with rafts/caveolae.
REFERENCE   6  (bases 1 to 1308)
  AUTHORS   Ohno Y, Kihara A, Sano T and Igarashi Y.
  TITLE     Intracellular localization and tissue-specific distribution of human
            and yeast DHHC cysteine-rich domain-containing proteins
  JOURNAL   Biochim Biophys Acta 1761 (4), 474-483 (2006)
   PUBMED   16647879
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279846.2894.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968540
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000296326.8/ ENSP00000296326.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG721568.1, BC022078.2, BU929650.1 and BC034801.1.
            On Nov 22, 2018 this sequence version replaced NM_001039617.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1308
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q29"
     gene            1..1308
                     /gene="ZDHHC19"
                     /gene_synonym="DHHC19"
                     /note="zinc finger DHHC-type palmitoyltransferase 19"
                     /db_xref="GeneID:131540"
                     /db_xref="HGNC:HGNC:20713"
                     /db_xref="MIM:618671"
     CDS             86..1015
                     /gene="ZDHHC19"
                     /gene_synonym="DHHC19"
                     /EC_number="2.3.1.225"
                     /note="zinc finger, DHHC domain containing 19; probable
                     palmitoyltransferase ZDHHC19; DHHC-19; zinc finger DHHC
                     domain-containing protein 19; zinc finger DHHC-type
                     containing 19"
                     /codon_start=1
                     /product="palmitoyltransferase ZDHHC19"
                     /protein_id="NP_001034706.1"
                     /db_xref="CCDS:CCDS43190.1"
                     /db_xref="GeneID:131540"
                     /db_xref="HGNC:HGNC:20713"
                     /db_xref="MIM:618671"
                     /translation="MTLLTDATPLVKEPHPLPLVPRPWFLPSLFAAFNVVLLVFFSGLF
                     FAFPCRWLAQNGEWAFPVITGSLFVLTFFSLVSLNFSDPGILHQGSAEQGPLTVHVVWV
                     NHGAFRLQWCPKCCFHRPPRTYHCPWCNICVEDFDHHCKWVNNCIGHRNFRFFMLLVLS
                     LCLYSGAMLVTCLIFLVRTTHLPFSTDKAIAIVVAVSAAGLLVPLSLLLLIQALSVSSA
                     DRTYKGKCRHLQGYNPFDQGCASNWYLTICAPLGPKYMAEAVQLQRVVGPDWTSMPNLH
                     PPMSPSALNPPAPTSGSLQSREGTPGAW"
     misc_feature    170..232
                     /gene="ZDHHC19"
                     /gene_synonym="DHHC19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WVZ1.2);
                     transmembrane region"
     misc_feature    260..322
                     /gene="ZDHHC19"
                     /gene_synonym="DHHC19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WVZ1.2);
                     transmembrane region"
     misc_feature    563..625
                     /gene="ZDHHC19"
                     /gene_synonym="DHHC19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WVZ1.2);
                     transmembrane region"
     misc_feature    662..724
                     /gene="ZDHHC19"
                     /gene_synonym="DHHC19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WVZ1.2);
                     transmembrane region"
     misc_feature    923..1012
                     /gene="ZDHHC19"
                     /gene_synonym="DHHC19"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WVZ1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1284..1289
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZDHHC19"
                     /gene_synonym="DHHC19"
                     /note="hexamer: ATTAAA"
     polyA_site      1308
                     /gene="ZDHHC19"
                     /gene_synonym="DHHC19"
                     /note="major polyA site"
ORIGIN
        1 gccgtggcca tggagctctg gaagctgggc tgggggagga agcctggtgg ctctgacctc
       61 ccctggaggc gaaggaggcc cagccatgac actcttaacg gatgccacgc cgctggtgaa
      121 ggagccccat cccctgcctc tggtcccacg tccctggttc ctccctagcc tctttgctgc
      181 cttcaatgtg gtgctgctgg tctttttcag tggcctcttc ttcgcattcc cttgcaggtg
      241 gctggctcag aacggggagt gggcctttcc tgttatcaca ggctccctct ttgtccttac
      301 cttcttcagt cttgtttcac tcaacttctc agaccctggc atcttacatc aaggctccgc
      361 tgagcagggc cccttgacgg tgcacgtggt gtgggtgaac cacggggcct tccgcctgca
      421 atggtgtcca aagtgctgct tccaccgccc gccccggact taccactgcc cctggtgcaa
      481 catctgtgtg gaggactttg accaccactg caagtgggtc aataactgca tcggtcaccg
      541 caacttccgc ttcttcatgc tgcttgtcct gtccctgtgc ctctactcgg gcgccatgct
      601 ggtcacctgt ctcatcttcc tggtgcgcac aacccacctg cccttctcca ccgacaaggc
      661 catcgccatc gtggtggccg tgtccgccgc gggcctcctg gtgccgctgt ccctcctgct
      721 gctgatccag gcactgtccg tgagctcggc cgaccgcacc tacaagggca agtgcagaca
      781 ccttcaggga tacaacccct tcgaccaggg ctgtgccagc aactggtatt taacaatttg
      841 tgcaccactg ggacccaagt acatggctga agctgtccag ctgcagagag tggtggggcc
      901 tgactggaca tccatgccga atctgcaccc tccaatgtcc ccctctgctc tcaacccccc
      961 agccccaacc tctgggtccc tacaaagcag ggaagggacc cccggggcgt ggtgaggctg
     1021 cagctctcca ggagttccac acgggcccag tgctgcccct gctgctgcag gagcccccag
     1081 gcgaggttcg gccttcctct cgcccctgtg cacccggaga tgcccacagc accagcacct
     1141 gagctcacct ccgaacccgc ctcctgaacc cgcctcctga acctgcctcc ttacctccca
     1201 cttcctgagc cctgagtgga agcctttctg tgccttgccc tttgcccact cccctggtgg
     1261 gactgccaag accctcaatg cccattaaat actcttgcct gcctctta
//
LOCUS       NM_001039618            7140 bp    mRNA    linear   PRI 23-AUG-2023
DEFINITION  Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript
            variant 1, mRNA.
ACCESSION   NM_001039618
VERSION     NM_001039618.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7140)
  AUTHORS   Truong XT, Lee YS, Nguyen TTP, Kim HJ, Kim SH, Moon C, Kim DK, Choi
            HS and Jeon TI.
  TITLE     SMILE Downregulation during Melanogenesis Induces MITF Transcription
            in B16F10 Cells
  JOURNAL   Int J Mol Sci 23 (23), 15094 (2022)
   PUBMED   36499416
  REMARK    GeneRIF: SMILE Downregulation during Melanogenesis Induces MITF
            Transcription in B16F10 Cells. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 7140)
  AUTHORS   Fang J, Jiang G, Mao W, Huang L, Huang C, Wang S, Xue H, Ke J and Ni
            Q.
  TITLE     Up-regulation of long noncoding RNA MBNL1-AS1 suppresses breast
            cancer progression by modulating miR-423-5p/CREBZF axis
  JOURNAL   Bioengineered 13 (2), 3707-3723 (2022)
   PUBMED   35094653
  REMARK    GeneRIF: Up-regulation of long noncoding RNA MBNL1-AS1 suppresses
            breast cancer progression by modulating miR-423-5p/CREBZF axis.
REFERENCE   3  (bases 1 to 7140)
  AUTHORS   Poh J, Ponsford AH, Boyd J, Woodsmith J, Stelzl U, Wanker E, Harper
            N, MacEwan D and Sanderson CM.
  TITLE     A functionally defined high-density NRF2 interactome reveals new
            conditional regulators of ARE transactivation
  JOURNAL   Redox Biol 37, 101686 (2020)
   PUBMED   32911434
REFERENCE   4  (bases 1 to 7140)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 7140)
  AUTHORS   Kim YJ, Jeong S, Jung WY, Choi JW, Hwang KC, Kim SW and Lee YC.
  TITLE     miRNAs as potential biomarkers for the progression of gastric cancer
            inhibit CREBZF and regulate migration of gastric adenocarcinoma
            cells
  JOURNAL   Int J Med Sci 17 (6), 693-701 (2020)
   PUBMED   32218690
  REMARK    GeneRIF: miRNAs as potential biomarkers for the progression of
            gastric cancer inhibit CREBZF and regulate migration of gastric
            adenocarcinoma cells. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 7140)
  AUTHORS   Hogan MR, Cockram GP and Lu R.
  TITLE     Cooperative interaction of Zhangfei and ATF4 in transactivation of
            the cyclic AMP response element
  JOURNAL   FEBS Lett 580 (1), 58-62 (2006)
   PUBMED   16343488
  REMARK    GeneRIF: ZF binds ATF4/CREB2 and enhances its response to MEK1
            activation.
REFERENCE   7  (bases 1 to 7140)
  AUTHORS   Akhova O, Bainbridge M and Misra V.
  TITLE     The neuronal host cell factor-binding protein Zhangfei inhibits
            herpes simplex virus replication
  JOURNAL   J Virol 79 (23), 14708-14718 (2005)
   PUBMED   16282471
  REMARK    GeneRIF: ZF suppresses the ability of VP16 to activate herpes
            simplex virus IE gene expression
REFERENCE   8  (bases 1 to 7140)
  AUTHORS   Misra V, Rapin N, Akhova O, Bainbridge M and Korchinski P.
  TITLE     Zhangfei is a potent and specific inhibitor of the host cell
            factor-binding transcription factor Luman
  JOURNAL   J Biol Chem 280 (15), 15257-15266 (2005)
   PUBMED   15705566
  REMARK    GeneRIF: ZF suppresses the ability of Luman/CREB3 to activate gene
            expression
REFERENCE   9  (bases 1 to 7140)
  AUTHORS   Mahajan SS, Little MM, Vazquez R and Wilson AC.
  TITLE     Interaction of HCF-1 with a cellular nuclear export factor
  JOURNAL   J Biol Chem 277 (46), 44292-44299 (2002)
   PUBMED   12235138
REFERENCE   10  (bases 1 to 7140)
  AUTHORS   Lu R and Misra V.
  TITLE     Zhangfei: a second cellular protein interacts with herpes simplex
            virus accessory factor HCF in a manner similar to Luman and VP16
  JOURNAL   Nucleic Acids Res 28 (12), 2446-2454 (2000)
   PUBMED   10871379
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC060807.1, AK313471.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000527447.2/ ENSP00000433459.1
            RefSeq Select criteria   :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000642.5.
            On Jan 28, 2020 this sequence version replaced NM_001039618.3.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the functional protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7140
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.1"
     gene            1..7140
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="CREB/ATF bZIP transcription factor"
                     /db_xref="GeneID:58487"
                     /db_xref="HGNC:HGNC:24905"
                     /db_xref="MIM:606444"
     misc_feature    204..206
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="upstream in-frame stop codon"
     CDS             255..1319
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="Zhangfei; HCF-binding transcription factor Zhangfei;
                     SHP-interacting leucine zipper protein; host cell
                     factor-binding transcription factor Zhangfei; small
                     heterodimer partner-interacting leucine zipper"
                     /codon_start=1
                     /product="CREB/ATF bZIP transcription factor"
                     /protein_id="NP_001034707.1"
                     /db_xref="CCDS:CCDS41697.1"
                     /db_xref="GeneID:58487"
                     /db_xref="HGNC:HGNC:24905"
                     /db_xref="MIM:606444"
                     /translation="MRHSLTKLLAASGSNSPTRSESPEPAATCSLPSDLTRAAAGEEET
                     AAAGSPGRKQQFGDEGELEAGRGSRGGVAVRAPSPEEMEEEAIASLPGEETEDMDFLSG
                     LELADLLDPRQPDWHLDPGLSSPGPLSSSGGGSDSGGLWRGDDDDEAAAAEMQRFSDLL
                     QRLLNGIGGCSSSSDSGSAEKRRRKSPGGGGGGGSGNDNNQAATKSPRKAAAAAARLNR
                     LKKKEYVMGLESRVRGLAAENQELRAENRELGKRVQALQEESRYLRAVLANETGLARLL
                     SRLSGVGLRLTTSLFRDSPAGDHDYALPVGKQKQDLLEEDDSAGGVCLHVDKDKVSVEF
                     CSACARKASSSLKM"
     misc_feature    255..539
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NS37.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    402..404
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9NS37.2); phosphorylation site"
     misc_feature    591..722
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NS37.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    765..896
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NS37.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    909..932
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NS37.2);
                     Region: Basic motif. /evidence=ECO:0000250"
     misc_feature    948..1055
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NS37.2);
                     Region: Leucine-zipper. /evidence=ECO:0000250"
     misc_feature    1161..1172
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NS37.2);
                     Region: HCFC1-binding motif (HBM).
                     /evidence=ECO:0000269|PubMed:10871379"
     regulatory      4038..4043
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="hexamer: ATTAAA"
     polyA_site      4064
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="major polyA site"
     regulatory      5396..5401
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="hexamer: ATTACA"
     polyA_site      5415
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="major polyA site"
     regulatory      6296..6301
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="hexamer: AATACA"
     polyA_site      6316
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
     regulatory      6432..6437
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="hexamer: AATATA"
     polyA_site      6452
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
     regulatory      7110..7115
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
                     /note="hexamer: AATAAA"
     polyA_site      7140
                     /gene="CREBZF"
                     /gene_synonym="SMILE; ZF"
ORIGIN
        1 gacttccggc tacgccgttg tctgggtggc gcggtcgagt catcgcaggg cctcaccgct
       61 tcgttctccc gtccctcccc gcgccttggc gcggggggtc gactagccaa gtgaggcggg
      121 aggcgactcg gacctttccc tgcatttcgt ttcggccagt gccgggggct acccgccctg
      181 gggcctggga tccttggggc ccgtgaggcc cactcttagc ggccggggcc taccgcggcc
      241 cgccgctggc cctcatgagg catagcctga ccaagctgct ggcagcctcg ggcagcaact
      301 ccccaacccg cagtgagagc ccggagccgg ctgcaacttg ttcgctgccc tctgacctga
      361 cccgggctgc agcgggggag gaggagacgg cggcggccgg atctcccggc cgcaagcagc
      421 agtttggcga cgaaggagag ttggaagccg ggagggggag ccgcggcggc gtggccgtgc
      481 gcgcgccctc ccccgaggag atggaggagg aggcgatcgc cagcctcccg ggggaagaga
      541 cggaggatat ggactttctg tctgggctgg aactggcgga tctcctggac cccaggcaac
      601 cggactggca cctggacccc gggcttagct cgccggggcc tctctcctcg tctggcggag
      661 gctcggatag cggcggcctg tggagagggg acgatgacga tgaggccgcg gctgctgaaa
      721 tgcagcgctt ctctgacctg ctgcaaaggc tgttaaacgg tatcggaggc tgcagcagca
      781 gcagtgacag tggcagcgcc gaaaagaggc ggagaaagtc cccaggagga ggcggcggtg
      841 gcggcagcgg taacgacaac aaccaggcgg cgacaaagag tccccggaag gcggcggcgg
      901 ccgctgcccg ccttaatcga ctgaagaaga aggagtacgt gatggggctg gagagtcgag
      961 tccggggtct ggcagccgag aaccaggagc tgcgggccga gaatcgggag ctgggcaaac
     1021 gcgtacaggc actgcaggag gagagtcgct acctacgggc agtcttagcc aacgagactg
     1081 gactggctcg cttgctgagc cggctgagcg gcgtgggact gcggctgacc acctcgctct
     1141 tcagagactc gcccgccggt gaccacgact acgctctgcc ggtgggaaag cagaagcagg
     1201 acctgctgga agaggacgac tcggcgggag gagtctgtct ccatgtggac aaggataagg
     1261 tgtcggtgga gttctgctcg gcgtgcgccc ggaaggcgtc gtcttctctt aaaatgtagg
     1321 gtcaagtaat ctgctcttta tccgcgttta cccctttcaa ctcccttaca ccatgtcaaa
     1381 cttaccttag tgggacatct tcaccggaca catttcagag gagagaaaaa aagtaatatt
     1441 gaatcttaaa gtgtttagct aaaagcatga atgtgacaca gtaaccaact cctaatgata
     1501 acatgtgact attaaatctc tctgacagtt tcttttttag gtgatttcct tcctgccagg
     1561 ctccgttgta ggggttacag aacagtcgtt cccgcctcac aacctggtaa ggatccatct
     1621 cttcccgtaa cgctcatgct ctgctgcttt gtctacttta atgggcaaca tctcagtttg
     1681 tgtgtgtgtg attttttttt ttttttctgt tttggaaggt gggagggaaa tctaatttgg
     1741 gccctgtcca ccctggaaac agacttgtgc tggtcaagaa tgtatttaag atgcctcttc
     1801 tggttgaaat agctattaat gtgtcccctt attcagactt gcgtgtacct agctcttctg
     1861 tccccagtgt ggacatggcc ttggatgaca tcggttccaa ctgtacactg aaacctgctt
     1921 atagagagac agtttggaga cagtgaaaca ggtgaagttg aatggaagtt ccgagttgta
     1981 caaggtgcaa attggaattc cgattttagg gcaacttttc agaggttgac agttaagtat
     2041 ttggggcatg cacaaatgtg atagttattt tgctggaggt gacaggtatc tcttaaatat
     2101 caacaatgcc ttttagtttt cagtatgaga tatagaaaca gtctataatg gagtaacatt
     2161 ttaatgtctc accattagag aagttggaaa ttaacataca tatgagactc ctgcgtttta
     2221 gttaattgga gaataagaat ggctaatgtt tctttgagga ccagcagtga ttaccctatc
     2281 actgagattg aataaattgt tgaacatctt tatttttgtt gtattaaaat tttaggttaa
     2341 atttatatat gtatgattag atattgaagg ttgtgaaatg tgaatgaaaa cgtgtaaagt
     2401 gaggcttcac aaagaatctt attctctgtg tttcaaaagt atttgtccta ttttaaaata
     2461 attttttaaa ttgagtggtt ctggccactt aaatgacacg attggtacta ttttcctaag
     2521 gtgggattta ttcccttgaa tctattaacc agttgtataa attgaattat ggtgtccttc
     2581 agtgtaagag gcattaagaa attctttgtg aaacatcact gcttgataaa gtatatacgt
     2641 atttagcatc cttgtttttc tttgtgctaa agtggataca gctgttgggg cagaagagac
     2701 gggaccagct gctggccaca tttcctgctt tattttaaaa ggtagtataa gaaatgagga
     2761 aaaagaggta atatcagggc ttctgctgtt ttttattttt aacatgttca taattaaaaa
     2821 gtattttcca gcagtccaaa gatgtaagtt atcttacaca taaaatgttt tattttgtta
     2881 tttggttatg aaaatggaat ccttgttctt gcacaactgt aaatgttttg ttgctagata
     2941 atacgatttg agacctgaat tggtctttgg tttccagtgc atcacagcat attttgtaaa
     3001 atcatctact actgcacttg agcatgaatg ggtagtagcc aaactcacaa attggagtga
     3061 tgaacctgct tatacctaag ggcaggagca agcccctcac aatgcagctg catgggtttt
     3121 tagtgcctac tgaattatat atatatatac atatatatat atatatataa accaaaagta
     3181 gttggaaaga ttatttgaaa tgactaattt gtgctatctt tatgaaatat gttaaatgta
     3241 gcttttttga aacagaagcc ttgaattgaa atttaactaa tacttgaaca ttttgtatat
     3301 atttctttgt atataatttt gtgcagtacc aatgacaaaa atatggtgtc ataataaaac
     3361 caggtttgtt gatcttttag ttatgggctc aaagaattta ttcatctcta acatgatatt
     3421 ggaaaataat ggatgaaaat aggaaaaatg attgttaatg ctgactgtgg gtcttaaaag
     3481 gttctggaaa gcagtaagtt catttttcta aaaactataa cattctgttg gagtattttc
     3541 ttccttacgt caatactttt cctgcattat ttgaaattgt gggctgggga gaaacagtag
     3601 tcaaagcttt ctgaattgag atactttgaa attccaagtg tagattttta gaatgtcatt
     3661 ttataaatgg cagtttttgg aattacttga taagaacttt tgaaaatgga aggattagta
     3721 tggcctattt ttaaagctgc tttgttaggt tccttatgtt ttattaactg tcttttctca
     3781 gtttccattt catttttttt tttctagttt tggtgactta gtgattttgt cattttttac
     3841 atcaacttca tggtcttgtt tttacatggt aattgcatgt acttaggatc tatctaatag
     3901 gggctttaaa taaatttggt catatttatg tgtaagcaca ttttactgta aatgtttggg
     3961 tttctgaatt taaacagatc tgtttatttc agtatgtagt aaacaatatc ttaaagtgtc
     4021 cgattcacta cttgttaatt aaaaaagtta tgattaatgt gaaactgttg tcttactatt
     4081 tttagaaaat tgtgttctgg atgattagca catggataaa ggagatttct ggaatataaa
     4141 atggattgtt tttgaaattt ctaggtttgg ctctatttac tgtaatggtt gaaaacaatt
     4201 tagtatttgg gtgacccttt tgtttttctt ctaaatgtgc ctctggtaaa atacagaact
     4261 agactaaaga tgtagctttt taatatttgt cttttgatgg tggcaggagt tcatacatta
     4321 attgaactaa cacatcatat tttgacctac tatttctatc atattgactt actgtttctg
     4381 cacttctttg accagactta tcttaaaaag tccacttttg ttaaaatgta gtcacacctc
     4441 tgatataatc caacaagaag tgttcaaaat attttaaata tttgtgcatt ttataatcac
     4501 taaattaatc tctctctctt ctctttgaac agcttagcag tgtctgcaaa aacgaatctt
     4561 ttcctacaac ctgttaactg actggactgt tggtaacaaa gtaattgtga gaaccatgtc
     4621 ggtcaaaaat ttggcatctg ctgaaaaaaa tgaatgccat tttcaagttc ccaaattact
     4681 tctatactga tttcactttc cagaaatgga gatatgaaaa gattctctgg aatccttgaa
     4741 agacttaata gagatacatg agactaagtt aatcttggaa caaaattata ctttttttgt
     4801 ctttcatggg agtgatactc agttattgca tatctttaca aaattgtaac ctttggagaa
     4861 ttacagtatt tcatcaagaa attagagttt ttacataatc aagagcatat tctatggaat
     4921 taacatttag tggactagaa ttacataagc aggccatcag tgatcacaag gcatatgagt
     4981 ttgtatttat ttcctggaac atgagagcta atttggagta cagacagaca ccctgctgag
     5041 tagaatataa aagttaatgt aaagttctga actataaaga gtagtccttt taaatagatg
     5101 cattgatttg tatatctttg aaaaagttga ttatgattaa atgtgtgggt agttaattac
     5161 aatttagggt aacaaccagg atgtatggat tcttgaggtt ttggcttctt gagctttctc
     5221 ttgagtactt gatactgttt tctgaatatt ttgaggtttc taattaatgg tatgctagtt
     5281 tctactgttt tatataaaaa tttatctagt gttgtataag gactttagta ttgtggatga
     5341 tgggagtggc tttttgtggc atatggttgt tttaattgaa atattttttc agtttattac
     5401 aagtgtgaaa aaacactcaa aactctggat tgttttattt catttttgtt ggattatgtt
     5461 aatacattcc ttcacgtggt ttagattgag tcattttatc tcacttactt ggaaatgtgc
     5521 agctgataga agagggattg ggtaggagat tggcttttac ttcataataa atatacagtt
     5581 ggttattgta ttattcaaaa cttattaaat ccattcagtt tcttaccatt ttaagtgtat
     5641 tcagtgcctg tgaagccagg cagcagagta ttcccactgg cttaaaactt aggcgctgat
     5701 gctcctacag tacagctagt tataattcca gaaccaaagg caccaacatt atttggtgac
     5761 cttaactact actttgatag aacagactgg gtaattcact gataatgagt cattaccttt
     5821 ttaatatgtg attatctagt tcagcatttt gaatgtgtag tttaaggtct gatttagtaa
     5881 aattttaaag ctaaataatc tgatgactct tgaaagttta attggtagta tgacatttat
     5941 gtttttttcc cccagactca cagccaatac aaagttttga gactcctaaa tgttaatatt
     6001 tttgctgttt ttctgagctg tttttttatt tacttaccac ctaagctgcg gatcaaaaag
     6061 ggaattcttc cattagaaat ttgtagtgtt gtgtggccag cacagtattt ttcagatttg
     6121 aatttcagta cctctgtgta gcctcagtac tctcaacacc agtcactctt tattgtctta
     6181 aaatattcca tactttttgt tgacccaaaa ttgttgaaaa tattttgctc agttttcaca
     6241 atgaactaat tgaaaagtgt agttactgtg ttgtaaacat ttgtgtagtt ctgttaatac
     6301 actgatttga attttattta tctcaacttc ctttagcgtc tgcctccaaa ttttgtcttt
     6361 gctgtatacc cactgagatc aattccctag acccctctgg ctcttagtgt actataattt
     6421 gggctttata aaatatattg tcttaattta aatagaatgt gagccctctt tttttttttt
     6481 taagccaaat aactacacaa agtaaattat aaaagattta aatagtttgt ctacagtgac
     6541 tagactgaaa tataaaaatt gattgagggt agtttacttc aggtgttagc tacaaatgac
     6601 taaatgtcct taaataatgc agatatctgc cctctgaaca aaaattttgg caaagtaaat
     6661 ttgtagcaac agacttaaca tgatttattg cttatgttgc ccatttctgc taatggaaaa
     6721 gataatttaa aaatatgtgg cagaggacag atattagaaa tactttttgg ttacagaaac
     6781 cattgtaaac tcatcctcat ttataaatgg tattatgcta gggagtaatt ggactaggaa
     6841 tgtttaaaga taagtaagga aacaatgtgt gctcaatcgt caaagaactt agttatatca
     6901 ttgggctttg aattatctaa gttgattaca taattctata ttcttaagga gtcttaactc
     6961 ggtacttggg ttaacgccag aaattacttt taattcattg tttttttcac tgggatgagt
     7021 agaactctgc ttttagtaaa agtgacagaa tataggtaaa atggatgatt tgggatcaga
     7081 gcttttcatc ttgatatttt agcctgtaaa ataaacagct atattgtttt gccctttaaa
//
LOCUS       NM_001039651            1255 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens suppressor APC domain containing 1 (SAPCD1), mRNA.
ACCESSION   NM_001039651
VERSION     NM_001039651.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1255)
  AUTHORS   Barcellos LF, May SL, Ramsay PP, Quach HL, Lane JA, Nititham J,
            Noble JA, Taylor KE, Quach DL, Chung SA, Kelly JA, Moser KL, Behrens
            TW, Seldin MF, Thomson G, Harley JB, Gaffney PM and Criswell LA.
  TITLE     High-density SNP screening of the major histocompatibility complex
            in systemic lupus erythematosus demonstrates strong evidence for
            independent susceptibility regions
  JOURNAL   PLoS Genet 5 (10), e1000696 (2009)
   PUBMED   19851445
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 1255)
  AUTHORS   Xie T, Rowen L, Aguado B, Ahearn ME, Madan A, Qin S, Campbell RD and
            Hood L.
  TITLE     Analysis of the gene-dense major histocompatibility complex class
            III region and its comparison to mouse
  JOURNAL   Genome Res 13 (12), 2621-2636 (2003)
   PUBMED   14656967
REFERENCE   3  (bases 1 to 1255)
  AUTHORS   Albertella MR, Jones H, Thomson W, Olavesen MG and Campbell RD.
  TITLE     Localization of eight additional genes in the human major
            histocompatibility complex, including the gene encoding the casein
            kinase II beta subunit (CSNK2B)
  JOURNAL   Genomics 36 (2), 240-251 (1996)
   PUBMED   8812450
REFERENCE   4  (bases 1 to 1255)
  AUTHORS   Sargent CA, Dunham I and Campbell RD.
  TITLE     Identification of multiple HTF-island associated genes in the human
            major histocompatibility complex class III region
  JOURNAL   EMBO J 8 (8), 2305-2312 (1989)
   PUBMED   2477242
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3412729.1,
            SRR14038192.38575.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000415669.4/ ENSP00000411948.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL662899.5.
            On Jun 8, 2021 this sequence version replaced NM_001039651.1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1255
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..1255
                     /gene="SAPCD1"
                     /gene_synonym="C6orf26; NG23"
                     /note="suppressor APC domain containing 1"
                     /db_xref="GeneID:401251"
                     /db_xref="HGNC:HGNC:13938"
     misc_feature    304..306
                     /gene="SAPCD1"
                     /gene_synonym="C6orf26; NG23"
                     /note="upstream in-frame stop codon"
     CDS             400..936
                     /gene="SAPCD1"
                     /gene_synonym="C6orf26; NG23"
                     /note="protein G7d"
                     /codon_start=1
                     /product="suppressor APC domain-containing protein 1"
                     /protein_id="NP_001034740.1"
                     /db_xref="CCDS:CCDS34411.1"
                     /db_xref="GeneID:401251"
                     /db_xref="HGNC:HGNC:13938"
                     /translation="MGSQGSGGVPLVQAPYTVLLLPLGTSRQDPGAQSFFLWLRRMQAL
                     EREQDALWQGLELLQHGQAWFEDHLREAQRQQLHLGALGENFLTDLHSEPGRPPLAQIQ
                     KVNICLQNLIHEKFSPSPLNKASSCTTQDSKERRREQNLWQQQELSRQQKGVTQPKEEM
                     AQRGCTKGPRGPTRV"
     regulatory      1214..1219
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAPCD1"
                     /gene_synonym="C6orf26; NG23"
                     /note="hexamer: AATAAA"
     polyA_site      1255
                     /gene="SAPCD1"
                     /gene_synonym="C6orf26; NG23"
                     /note="major polyA site"
ORIGIN
        1 ataaagttta ttttgaagaa agatattgtt tctttagtct caaaacaaga gactaggaaa
       61 gatccaaaac acagagcagg agtccacagg ggaacctgcc ctgcctcagt aaaaatacag
      121 tgttgttgct gtaggaagac tcccggattc taccccagga tacttcatga gaacgaaccc
      181 cttcagagag gccctacaaa acagattaga gggaagacag aggggtccaa gggagatggt
      241 ctctcttctc aagtaggaac accccagcct cagacagaca cagcaggaag gggcctgaga
      301 ggctgacaga ggcaggatgg gtgcaaggca ggggtggagg ggagggacca gcccgggctg
      361 caccagtggg agtggctcca cccttcccac ctcagagcca tggggagcca gggctctggc
      421 ggggtgccct tggtgcaggc tccctacaca gtcctgctgc tgccgctggg gacaagccgc
      481 caagacccag gggcccagag cttcttcctt tggctacgca ggatgcaggc tctggagaga
      541 gaacaggatg ccctgtggca gggtctggag ctgctacagc atggccaggc ctggtttgaa
      601 gaccatctga gggaggcaca gcgacagcag ctgcatctag gggcccttgg tgagaatttt
      661 ctaacagatt tacactcaga gcctggtcgc cccccgttag cccagattca aaaggtgaac
      721 atctgtttgc agaatctgat tcatgagaag ttctccccaa gtccactgaa caaggctagt
      781 tcctgcacca cccaggattc aaaggaaaga cgaagggagc agaacttgtg gcagcaacag
      841 gagttgtcaa ggcagcagaa aggagtcacc cagccaaagg aggagatggc tcagcggggc
      901 tgcaccaagg ggccaagagg ccctacccgt gtctaaaccc tcctctcact cccctaagcc
      961 tggtgaaaga gtcagaagcc ccaggctcct ttttctgttt cttaactcaa cagctaaaaa
     1021 atggctccag gtagtgagtc aatgaagttc agacatgttg gtgtaaagtt tctcctctgc
     1081 tcctgaaaac ttcatcttct tggtgtctca tgtcctcatt ctcccctata tgacatgcaa
     1141 aaacgatctt tctttgaaat ccctctggga agaagcatgt ttattgaaac tgtccttcag
     1201 ccttaaatac aaaaataaaa ctgaaactgc tccagaaagc agctttctcc aaaaa
//
LOCUS       NM_001039660            1697 bp    mRNA    linear   PRI 12-FEB-2023
DEFINITION  Homo sapiens interleukin 18 binding protein (IL18BP), transcript
            variant F, mRNA.
ACCESSION   NM_001039660
VERSION     NM_001039660.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1697)
  AUTHORS   Wang X, Wang L, Wen X, Zhang L, Jiang X and He G.
  TITLE     Interleukin-18 and IL-18BP in inflammatory dermatological diseases
  JOURNAL   Front Immunol 14, 955369 (2023)
   PUBMED   36742296
  REMARK    GeneRIF: Interleukin-18 and IL-18BP in inflammatory dermatological
            diseases. Review article Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1697)
  AUTHORS   Sismanlar Eyuboglu T, Aslan AT, Ramasli Gursoy T, Pekcan S, Kose M,
            Hangul M, Aral LA and Bulut V.
  TITLE     Caspase-1 and interleukin-18 in children with post infectious
            bronchiolitis obliterans: a case-control study
  JOURNAL   Eur J Pediatr 181 (8), 3093-3101 (2022)
   PUBMED   35705877
  REMARK    GeneRIF: Caspase-1 and interleukin-18 in children with post
            infectious bronchiolitis obliterans: a case-control study.
REFERENCE   3  (bases 1 to 1697)
  AUTHORS   Detry S, Andries J, Bloch Y, Gabay C, Clancy DM and Savvides SN.
  TITLE     Structural basis of human IL-18 sequestration by the decoy receptor
            IL-18 binding protein in inflammation and tumor immunity
  JOURNAL   J Biol Chem 298 (5), 101908 (2022)
   PUBMED   35398099
  REMARK    GeneRIF: Structural basis of human IL-18 sequestration by the decoy
            receptor IL-18 binding protein in inflammation and tumor immunity.
REFERENCE   4  (bases 1 to 1697)
  AUTHORS   Harel M, Fauteux-Daniel S, Girard-Guyonvarc'h C and Gabay C.
  TITLE     Balance between Interleukin-18 and Interleukin-18 binding protein in
            auto-inflammatory diseases
  JOURNAL   Cytokine 150, 155781 (2022)
   PUBMED   34923222
  REMARK    GeneRIF: Balance between Interleukin-18 and Interleukin-18 binding
            protein in auto-inflammatory diseases.
REFERENCE   5  (bases 1 to 1697)
  AUTHORS   Corbaz A, ten Hove T, Herren S, Graber P, Schwartsburd B, Belzer I,
            Harrison J, Plitz T, Kosco-Vilbois MH, Kim SH, Dinarello CA, Novick
            D, van Deventer S and Chvatchko Y.
  TITLE     IL-18-binding protein expression by endothelial cells and
            macrophages is up-regulated during active Crohn's disease
  JOURNAL   J Immunol 168 (7), 3608-3616 (2002)
   PUBMED   11907126
  REMARK    GeneRIF: IL-18BP messenger transcript and protein are significantly
            increased in surgically resected specimens from active Crohn's
            disease compared with control patients, correlating with an
            up-regulation of IL-18.
REFERENCE   6  (bases 1 to 1697)
  AUTHORS   Paulukat J, Bosmann M, Nold M, Garkisch S, Kampfer H, Frank S,
            Raedle J, Zeuzem S, Pfeilschifter J and Muhl H.
  TITLE     Expression and release of IL-18 binding protein in response to
            IFN-gamma
  JOURNAL   J Immunol 167 (12), 7038-7043 (2001)
   PUBMED   11739524
  REMARK    GeneRIF: trancriptional activation and release of IL-18 binding
            protein in response to IFN-gamma
REFERENCE   7  (bases 1 to 1697)
  AUTHORS   Kim SH, Eisenstein M, Reznikov L, Fantuzzi G, Novick D, Rubinstein M
            and Dinarello CA.
  TITLE     Structural requirements of six naturally occurring isoforms of the
            IL-18 binding protein to inhibit IL-18
  JOURNAL   Proc Natl Acad Sci U S A 97 (3), 1190-1195 (2000)
   PUBMED   10655506
REFERENCE   8  (bases 1 to 1697)
  AUTHORS   Xiang Y and Moss B.
  TITLE     Identification of human and mouse homologs of the MC51L-53L-54L
            family of secreted glycoproteins encoded by the Molluscum
            contagiosum poxvirus
  JOURNAL   Virology 257 (2), 297-302 (1999)
   PUBMED   10329540
REFERENCE   9  (bases 1 to 1697)
  AUTHORS   Aizawa Y, Akita K, Taniai M, Torigoe K, Mori T, Nishida Y, Ushio S,
            Nukada Y, Tanimoto T, Ikegami H, Ikeda M and Kurimoto M.
  TITLE     Cloning and expression of interleukin-18 binding protein
  JOURNAL   FEBS Lett 445 (2-3), 338-342 (1999)
   PUBMED   10094485
REFERENCE   10  (bases 1 to 1697)
  AUTHORS   Novick D, Kim SH, Fantuzzi G, Reznikov LL, Dinarello CA and
            Rubinstein M.
  TITLE     Interleukin-18 binding protein: a novel modulator of the Th1
            cytokine response
  JOURNAL   Immunity 10 (1), 127-136 (1999)
   PUBMED   10023777
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.377351.1,
            SRR5189655.25064.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000393703.9/ ENSP00000377306.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP002490.4, BX357194.2,
            CB154498.1, AF110799.1 and AW295729.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001039660.1.
            Summary: The protein encoded by this gene functions as an inhibitor
            of the proinflammatory cytokine, IL18. It binds IL18, prevents the
            binding of IL18 to its receptor, and thus inhibits IL18-induced
            IFN-gamma production, resulting in reduced T-helper type 1 immune
            responses. This protein is constitutively expressed and secreted in
            mononuclear cells. Elevated level of this protein is detected in
            the intestinal tissues of patients with Crohn's disease.
            Alternatively spliced transcript variants encoding different
            isoforms have been described for this gene. [provided by RefSeq,
            Feb 2011].
            Transcript Variant: This variant (F) differs in the 5' UTR compared
            to variant A. Variants A, E, F and G encode the same isoform (a,
            also known as IL-18BPa).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1697
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..1697
                     /gene="IL18BP"
                     /gene_synonym="FVH; IL18BPa"
                     /note="interleukin 18 binding protein"
                     /db_xref="GeneID:10068"
                     /db_xref="HGNC:HGNC:5987"
                     /db_xref="MIM:604113"
     CDS             170..754
                     /gene="IL18BP"
                     /gene_synonym="FVH; IL18BPa"
                     /note="isoform a precursor is encoded by transcript variant
                     F; MC51L-53L-54L homolog gene product; tadekinig-alfa"
                     /codon_start=1
                     /product="interleukin-18-binding protein isoform a
                     precursor"
                     /protein_id="NP_001034749.1"
                     /db_xref="CCDS:CCDS8206.2"
                     /db_xref="GeneID:10068"
                     /db_xref="HGNC:HGNC:5987"
                     /db_xref="MIM:604113"
                     /translation="MTMRHNWTPDLSPLWVLLLCAHVVTLLVRATPVSQTTTAATASVR
                     STKDPCPSQPPVFPAAKQCPALEVTWPEVEVPLNGTLSLSCVACSRFPNFSILYWLGNG
                     SFIEHLPGRLWEGSTSRERGSTGTQLCKALVLEQLTPALHSTNFSCVLVDPEQVVQRHV
                     VLAQLWAGLRATLPPTQEALPSSHSSPQQQG"
     sig_peptide     170..259
                     /gene="IL18BP"
                     /gene_synonym="FVH; IL18BPa"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     260..751
                     /gene="IL18BP"
                     /gene_synonym="FVH; IL18BPa"
                     /product="interleukin-18-binding protein isoform a"
     misc_feature    326..328
                     /gene="IL18BP"
                     /gene_synonym="FVH; IL18BPa"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:22171320; propagated from
                     UniProtKB/Swiss-Prot (O95998.2); glycosylation site"
     misc_feature    404..406
                     /gene="IL18BP"
                     /gene_synonym="FVH; IL18BPa"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O95998.2); glycosylation site"
     misc_feature    449..451
                     /gene="IL18BP"
                     /gene_synonym="FVH; IL18BPa"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O95998.2); glycosylation site"
     misc_feature    476..478
                     /gene="IL18BP"
                     /gene_synonym="FVH; IL18BPa"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:22171320; propagated from
                     UniProtKB/Swiss-Prot (O95998.2); glycosylation site"
     misc_feature    608..610
                     /gene="IL18BP"
                     /gene_synonym="FVH; IL18BPa"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:22171320; propagated from
                     UniProtKB/Swiss-Prot (O95998.2); glycosylation site"
     regulatory      1400..1405
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IL18BP"
                     /gene_synonym="FVH; IL18BPa"
                     /note="hexamer: CATAAA"
     polyA_site      1420
                     /gene="IL18BP"
                     /gene_synonym="FVH; IL18BPa"
                     /note="major polyA site"
ORIGIN
        1 gtatttcctg tggtgggttc acacgcagct agacacagct aacttgagtc ttggagctcc
       61 tagagggaag cttctggaaa ggaaggctct tcaggacctc ttaggagcca gagaagagga
      121 cgttgtcaca gataaagagc caggctcacc agctcctgac gcatgcatca tgaccatgag
      181 acacaactgg acaccagacc tcagcccttt gtgggtcctg ctcctgtgtg cccacgtcgt
      241 cactctcctg gtcagagcca cacctgtctc gcagaccacc acagctgcca ctgcctcagt
      301 tagaagcaca aaggacccct gcccctccca gcccccagtg ttcccagcag ctaagcagtg
      361 tccagcattg gaagtgacct ggccagaggt ggaagtgcca ctgaatggaa cgctgagctt
      421 atcctgtgtg gcctgcagcc gcttccccaa cttcagcatc ctctactggc tgggcaatgg
      481 ttccttcatt gagcacctcc caggccgact gtgggagggg agcaccagcc gggaacgtgg
      541 gagcacaggt acgcagctgt gcaaggcctt ggtgctggag cagctgaccc ctgccctgca
      601 cagcaccaac ttctcctgtg tgctcgtgga ccctgaacag gttgtccagc gtcacgtcgt
      661 cctggcccag ctctgggctg ggctgagggc aaccttgccc cccacccaag aagccctgcc
      721 ctccagccac agcagtccac agcagcaggg ttaagactca gcacagggcc agcagcagca
      781 caaccttgac cagagcttgg gtcctacctg tctacctgga gtgaacagtc cctgactgcc
      841 tgtaggctgc gtggatgcgc aacacacccc ctccttctct gctttgggtc ccttctctca
      901 ccaaattcaa actccattcc cacctaccta gaaaatcaca gcctccttat aatgcctcct
      961 cctcctgcca ttctctctcc acctatccat tagccttcct aacgtcctac tcctcacact
     1021 gctctactgc tcagaaacca ccaagactgt tgatgcctta gccttgcact ccagggccct
     1081 acctgcattt cccacatgac tttctggaag cctcccaact attcttgctt ttcccagaca
     1141 gctcccactc ccatgtctct gctcatttag tcccgtcttc ctcaccgccc cagcagggga
     1201 acgctcaagc ctggttgaaa tgctgcctct tcagtgaagt catcctcttt cagctctggc
     1261 cgcattctgc agacttccta tcttcgtgct gtatgttttt tttttccccc ttcactctaa
     1321 tggactgttc cagggaaggg atgggggcag cagctgcttc ggatccacac tgtatctgtg
     1381 tcatccccac atgggtcctc ataaaggatt attcaatgga ggcatcctga catctgttca
     1441 tttaggcttc agttccactc ccaggaactt tgcctgtccc acgagggagt atgggagaga
     1501 gggactgcca cacagaagct gaagacaaca cctgcttcag gggaacacag gcgcttgaaa
     1561 aagaaaagag agaacagccc ataatgctcc ccgggagcag aggccactaa tggagagtgg
     1621 gaagagcctg gaaagatgtg gcctcaggaa aagggatgag agaaaggagg tggtatggaa
     1681 gactcagcag gaacaag
//
LOCUS       NM_001039672            2769 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens Yip1 interacting factor homolog B, membrane trafficking
            protein (YIF1B), transcript variant 5, mRNA.
ACCESSION   NM_001039672
VERSION     NM_001039672.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2769)
  AUTHORS   Diaz J, Gerard X, Emerit MB, Areias J, Geny D, Degardin J, Simonutti
            M, Guerquin MJ, Collin T, Viollet C, Billard JM, Metin C, Hubert L,
            Larti F, Kahrizi K, Jobling R, Agolini E, Shaheen R, Zigler A,
            Rouiller-Fabre V, Rozet JM, Picaud S, Novelli A, Alameer S,
            Najmabadi H, Cohn R, Munnich A, Barth M, Lugli L, Alkuraya FS,
            Blaser S, Gashlan M, Besmond C, Darmon M and Masson J.
  TITLE     YIF1B mutations cause a post-natal neurodevelopmental syndrome
            associated with Golgi and primary cilium alterations
  JOURNAL   Brain 143 (10), 2911-2928 (2020)
   PUBMED   33103737
  REMARK    GeneRIF: YIF1B mutations cause a post-natal neurodevelopmental
            syndrome associated with Golgi and primary cilium alterations.
            Erratum:[Brain. 2021 May 7;144(4):e40. PMID: 33438001]
REFERENCE   2  (bases 1 to 2769)
  AUTHORS   Liu J, Chen Z, Zhao P and Li W.
  TITLE     Prognostic and immune regulating roles of YIF1B in Pan-Cancer: a
            potential target for both survival and therapy response evaluation
  JOURNAL   Biosci Rep 40 (7) (2020)
   PUBMED   32648580
  REMARK    GeneRIF: Prognostic and immune regulating roles of YIF1B in
            Pan-Cancer: a potential target for both survival and therapy
            response evaluation.
REFERENCE   3  (bases 1 to 2769)
  AUTHORS   AlMuhaizea M, AlMass R, AlHargan A, AlBader A, Medico Salsench E,
            Howaidi J, Ihinger J, Karachunski P, Begtrup A, Segura Castell M,
            Bauer P, Bertoli-Avella A, Kaya IH, AlSufayan J, AlQuait L, Chedrawi
            A, Arold ST, Colak D, Barakat TS and Kaya N.
  TITLE     Truncating mutations in YIF1B cause a progressive encephalopathy
            with various degrees of mixed movement disorder, microcephaly, and
            epilepsy
  JOURNAL   Acta Neuropathol 139 (4), 791-794 (2020)
   PUBMED   32006098
  REMARK    GeneRIF: Truncating mutations in YIF1B cause a progressive
            encephalopathy with various degrees of mixed movement disorder,
            microcephaly, and epilepsy.
REFERENCE   4  (bases 1 to 2769)
  AUTHORS   Graab P, Bock C, Weiss K, Hirth A, Koller N, Braner M, Jung J, Loehr
            F, Tampe R, Behrends C and Abele R.
  TITLE     Lysosomal targeting of the ABC transporter TAPL is determined by
            membrane-localized charged residues
  JOURNAL   J Biol Chem 294 (18), 7308-7323 (2019)
   PUBMED   30877195
REFERENCE   5  (bases 1 to 2769)
  AUTHORS   Sokolina K, Kittanakom S, Snider J, Kotlyar M, Maurice P, Gandia J,
            Benleulmi-Chaachoua A, Tadagaki K, Oishi A, Wong V, Malty RH,
            Deineko V, Aoki H, Amin S, Yao Z, Morato X, Otasek D, Kobayashi H,
            Menendez J, Auerbach D, Angers S, Przulj N, Bouvier M, Babu M,
            Ciruela F, Jockers R, Jurisica I and Stagljar I.
  TITLE     Systematic protein-protein interaction mapping for clinically
            relevant human GPCRs
  JOURNAL   Mol Syst Biol 13 (3), 918 (2017)
   PUBMED   28298427
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2769)
  AUTHORS   Alterio J, Masson J, Diaz J, Chachlaki K, Salman H, Areias J, Al
            Awabdh S, Emerit MB and Darmon M.
  TITLE     Yif1B Is Involved in the Anterograde Traffic Pathway and the Golgi
            Architecture
  JOURNAL   Traffic 16 (9), 978-993 (2015)
   PUBMED   26077767
REFERENCE   7  (bases 1 to 2769)
  AUTHORS   Carrel D, Masson J, Al Awabdh S, Capra CB, Lenkei Z, Hamon M, Emerit
            MB and Darmon M.
  TITLE     Targeting of the 5-HT1A serotonin receptor to neuronal dendrites is
            mediated by Yif1B
  JOURNAL   J Neurosci 28 (32), 8063-8073 (2008)
   PUBMED   18685031
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.105240.1,
            SRR5189661.12937.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000339413.11/ ENSP00000343435.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AW630507.1, BC091477.1, AC011479.7 and AK027130.1.
            On Nov 22, 2018 this sequence version replaced NM_001039672.2.
            Transcript Variant: This variant (5) encodes the longest isoform
            (5).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2769
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..2769
                     /gene="YIF1B"
                     /gene_synonym="FinGER8; KABAMAS"
                     /note="Yip1 interacting factor homolog B, membrane
                     trafficking protein"
                     /db_xref="GeneID:90522"
                     /db_xref="HGNC:HGNC:30511"
                     /db_xref="MIM:619109"
     CDS             31..975
                     /gene="YIF1B"
                     /gene_synonym="FinGER8; KABAMAS"
                     /note="isoform 5 is encoded by transcript variant 5;
                     protein YIF1B; YIP1-interacting factor homolog B"
                     /codon_start=1
                     /product="protein YIF1B isoform 5"
                     /protein_id="NP_001034761.1"
                     /db_xref="CCDS:CCDS33010.1"
                     /db_xref="GeneID:90522"
                     /db_xref="HGNC:HGNC:30511"
                     /db_xref="MIM:619109"
                     /translation="MHPAGLAAAAAGTPRLRKWPSKRRIPVSQPGMADPHQLFDDTSSA
                     QSRGYGAQRAPGGLSYPAASPTPHAAFLADPVSNMAMAYGSSLAAQGKELVDKNIDRFI
                     PITKLKYYFAVDTMYVGRKLGLLFFPYLHQDWEVQYQQDTPVAPRFDVNAPDLYIPAMA
                     FITYVLVAGLALGTQDRFSPDLLGLQASSALAWLTLEVLAILLSLYLVTVNTDLTTIDL
                     VAFLGYKYVGMIGGVLMGLLFGKIGYYLVLGWCCVAIFVFMIRTLRLKILADAAAEGVP
                     VRGARNQLRMYLTMAVAAAQPMLMYWLTFHLVR"
     misc_feature    31..195
                     /gene="YIF1B"
                     /gene_synonym="FinGER8; KABAMAS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BJH7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    31..33
                     /gene="YIF1B"
                     /gene_synonym="FinGER8; KABAMAS"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000250|UniProtKB:Q9CX30; propagated from
                     UniProtKB/Swiss-Prot (Q5BJH7.1); acetylation site"
     misc_feature    67..69
                     /gene="YIF1B"
                     /gene_synonym="FinGER8; KABAMAS"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9CX30; propagated from
                     UniProtKB/Swiss-Prot (Q5BJH7.1); phosphorylation site"
     misc_feature    223..225
                     /gene="YIF1B"
                     /gene_synonym="FinGER8; KABAMAS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q5BJH7.1); phosphorylation site"
     misc_feature    499..561
                     /gene="YIF1B"
                     /gene_synonym="FinGER8; KABAMAS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BJH7.1);
                     transmembrane region"
     misc_feature    607..669
                     /gene="YIF1B"
                     /gene_synonym="FinGER8; KABAMAS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BJH7.1);
                     transmembrane region"
     misc_feature    688..750
                     /gene="YIF1B"
                     /gene_synonym="FinGER8; KABAMAS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BJH7.1);
                     transmembrane region"
     misc_feature    754..816
                     /gene="YIF1B"
                     /gene_synonym="FinGER8; KABAMAS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BJH7.1);
                     transmembrane region"
     misc_feature    907..969
                     /gene="YIF1B"
                     /gene_synonym="FinGER8; KABAMAS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BJH7.1);
                     transmembrane region"
     regulatory      1192..1197
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YIF1B"
                     /gene_synonym="FinGER8; KABAMAS"
                     /note="hexamer: AATAAA"
     polyA_site      1213
                     /gene="YIF1B"
                     /gene_synonym="FinGER8; KABAMAS"
                     /note="major polyA site"
     regulatory      2741..2746
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YIF1B"
                     /gene_synonym="FinGER8; KABAMAS"
                     /note="hexamer: AATAAA"
     polyA_site      2769
                     /gene="YIF1B"
                     /gene_synonym="FinGER8; KABAMAS"
ORIGIN
        1 gaaccgcggc ttaggtggcg gcggcgaagg atgcacccgg caggcttggc ggcggcggct
       61 gcggggacgc cccggctgcg taagtggccc tcgaagcgga ggatccctgt gtcccagccg
      121 ggcatggccg acccccacca gcttttcgat gacacaagtt cagcccagag ccggggctat
      181 ggggcccagc gggcacctgg tggcctgagt tatcctgcag cctctcccac gccccatgca
      241 gccttcctgg ctgacccggt gtccaacatg gccatggcct atgggagcag cctggccgcg
      301 cagggcaagg agctggtgga taagaacatc gaccgcttca tccccatcac caagctcaag
      361 tattactttg ctgtggacac catgtatgtg ggcagaaagc tgggcctgct gttcttcccc
      421 tacctacacc aggactggga agtgcagtac caacaggaca ccccggtggc cccccgcttt
      481 gacgtcaatg ccccggacct ctacattcca gcaatggctt tcatcaccta cgttttggtg
      541 gctggtcttg cgctggggac ccaggatagg ttctccccag acctcctggg gctgcaagcg
      601 agctcagccc tggcctggct gaccctggag gtgctggcca tcctgctcag cctctatctg
      661 gtcactgtca acaccgacct caccaccatc gacctggtgg ccttcttggg ctacaaatat
      721 gtcgggatga ttggcggggt cctcatgggc ctgctcttcg ggaagattgg ctactacctg
      781 gtgctgggct ggtgctgcgt agccatcttt gtgttcatga tccggacgct gcggctgaag
      841 atcttggcag acgcagcagc tgagggggtc ccggtgcgtg gggcccggaa ccagctgcgc
      901 atgtacctga ccatggcggt ggcggcggcg cagcctatgc tcatgtactg gctcaccttc
      961 cacctggtgc ggtgagcgcg cccgctgaac ctcccgctgc tgctgctgct gctgggggcc
     1021 actgtggccg ccgaactcat ctcctgcctg caggccccaa ggtccaccct gtctggccac
     1081 aggcaccgcc tccatcccat gtcccgccca gccccgcccc caacccaagg tgctgagaga
     1141 tctccagctg cacaggccac cgccccaggg cgtggccgct gttacagaaa caataaaccc
     1201 tgatgggcat ggcgtggaca gcctctcctt ggcctcgcgc acgaatgggc gggcccagcg
     1261 ctgggcaggg ggcagggagc tggggacggg ccagagtagg caccacgctg accagtcgca
     1321 gaaggcagag aggaaggttt aatgagccct gtccagggcc cttcagtggg gagcctcctt
     1381 cttcttgccc ttctccttct tgcccttctc cttcttcttc actttgggct tcttggcctt
     1441 gcccgggatg ctctcgtgct gcttggagcc agcagcgtgg gactgtgggg ccgagggcag
     1501 ggatgggaga gaagagatgg ttctgggctg gaagcgagac agggggacca ctccccgcac
     1561 cctccccgcc agccccagtg cggggacgcc tctctggggt gcagggcacg tgcttgggga
     1621 cgctggcgag agccccttac cttcacatcc gtgtccgaat cgctggagct gctgctggag
     1681 tcggaagagc tgtggtgtcc ttgctggatg gaggtgcggc agtgaggcgg cgccccttac
     1741 ccagccccct gaagttggag gcctaaggca ggaccctggg gtcaggggca accccagcct
     1801 tcccgcccct ccgcagccgg tgatgaggcg acttaccttt ggacccggac ctgcccctgc
     1861 ctccgaccgg ccctgaactt tgtggggact gagcttggga tctcccccgt ggcccgcccc
     1921 cacaccgggc ttctgggagg tgggctccag ggctgtggag agaagttggg tggttggtgc
     1981 aggcagcttc tgggcttgag tccggccccc tgcacctcca gtccacactc cccaggagct
     2041 cacctgctcc caggtcgaac tccatggcgg taagagaagt tgggtcctaa ggccaagggc
     2101 gcctgggccc tgcagaggag cggagcaggg ggaggagcgc tgagacctgc ccgttggagg
     2161 aatgctgaga cgccccaccc aacctctgtc ctggtcctca gccctgactc attgcccggc
     2221 accacccagg atttcctctg tgagaagtgg gggagatgga caggtgactg cttccgccag
     2281 ccttggtgcc tcaggggagg ccgactgagg ggggctctgt ggatggcatt cggggagcta
     2341 caggtttccc ccaaaagctc agatgctcgt tcttgaagag ggaggtgctg cccctgcctt
     2401 cctgcgtacc gcgacaatac agcttcctcc gcggcgcttt aacacgcagg gcgctgctgc
     2461 caggggcgtc ccgtgttcta actcgctccc acagcccctc cggcttggtg agcagcgtct
     2521 gaggggtgag gggcatagac ttggagccag cctgctgcac tagatgccag ctgtgtcact
     2581 tagcagcaag gtgacctcag caaagttgtt ttacctctgt gcctcagttt cctcatctgt
     2641 aaataacagc tacccatggg attgatgtga aagtcagagg agttaatttc ctagaatggt
     2701 gtctggcatg aagtactgat aatgtgttgg ttttttaaaa aataaaaggt aggtgtttta
     2761 ggccagtca
//
LOCUS       NM_001039690            2921 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens chromosome transmission fidelity factor 8 (CHTF8),
            transcript variant 1, mRNA.
ACCESSION   NM_001039690
VERSION     NM_001039690.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2921)
  AUTHORS   Bigaud E and Corrales FJ.
  TITLE     Methylthioadenosine (MTA) Regulates Liver Cells Proteome and
            Methylproteome: Implications in Liver Biology and Disease
  JOURNAL   Mol Cell Proteomics 15 (5), 1498-1510 (2016)
   PUBMED   26819315
REFERENCE   2  (bases 1 to 2921)
  AUTHORS   Murakami T, Takano R, Takeo S, Taniguchi R, Ogawa K, Ohashi E and
            Tsurimoto T.
  TITLE     Stable interaction between the human proliferating cell nuclear
            antigen loader complex Ctf18-replication factor C (RFC) and DNA
            polymerase {epsilon} is mediated by the cohesion-specific subunits,
            Ctf18, Dcc1, and Ctf8
  JOURNAL   J Biol Chem 285 (45), 34608-34615 (2010)
   PUBMED   20826785
  REMARK    GeneRIF: Stable interaction between the human proliferating cell
            nuclear antigen loader complex Ctf18-replication factor C (RFC) and
            DNA polymerase {epsilon} is mediated by the cohesion-specific
            subunits, Ctf18, Dcc1, and Ctf8.
REFERENCE   3  (bases 1 to 2921)
  AUTHORS   Green AR, Krivinskas S, Young P, Rakha EA, Paish EC, Powe DG and
            Ellis IO.
  TITLE     Loss of expression of chromosome 16q genes DPEP1 and CTCF in lobular
            carcinoma in situ of the breast
  JOURNAL   Breast Cancer Res Treat 113 (1), 59-66 (2009)
   PUBMED   18213475
REFERENCE   4  (bases 1 to 2921)
  AUTHORS   Shiomi Y, Masutani C, Hanaoka F, Kimura H and Tsurimoto T.
  TITLE     A second proliferating cell nuclear antigen loader complex,
            Ctf18-replication factor C, stimulates DNA polymerase eta activity
  JOURNAL   J Biol Chem 282 (29), 20906-20914 (2007)
   PUBMED   17545166
REFERENCE   5  (bases 1 to 2921)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   6  (bases 1 to 2921)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   7  (bases 1 to 2921)
  AUTHORS   Bermudez VP, Maniwa Y, Tappin I, Ozato K, Yokomori K and Hurwitz J.
  TITLE     The alternative Ctf18-Dcc1-Ctf8-replication factor C complex
            required for sister chromatid cohesion loads proliferating cell
            nuclear antigen onto DNA
  JOURNAL   Proc Natl Acad Sci U S A 100 (18), 10237-10242 (2003)
   PUBMED   12930902
  REMARK    GeneRIF: The alternative Ctf18-Dcc1-Ctf8-replication factor C
            complex required for sister chromatid cohesion loads proliferating
            cell nuclear antigen onto DNA.
REFERENCE   8  (bases 1 to 2921)
  AUTHORS   Merkle CJ, Karnitz LM, Henry-Sanchez JT and Chen J.
  TITLE     Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human
            homologs of a Saccharomyces cerevisiae complex involved in sister
            chromatid cohesion establishment
  JOURNAL   J Biol Chem 278 (32), 30051-30056 (2003)
   PUBMED   12766176
  REMARK    GeneRIF: hCTF18, hCTF8, and hDCC1 interact with each other as well
            as with the p38 subunit of RFC
REFERENCE   9  (bases 1 to 2921)
  AUTHORS   Mayer ML, Gygi SP, Aebersold R and Hieter P.
  TITLE     Identification of RFC(Ctf18p, Ctf8p, Dcc1p): an alternative RFC
            complex required for sister chromatid cohesion in S. cerevisiae
  JOURNAL   Mol Cell 7 (5), 959-970 (2001)
   PUBMED   11389843
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC018700.2, SRR1660803.91557.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2155770,
            SAMEA2156266 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000448552.7/ ENSP00000408367.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009027.10.
            On Jun 2, 2019 this sequence version replaced NM_001039690.4.
            Summary: This gene encodes a short protein that forms part of the
            Ctf18 replication factor C (RFC) complex that occurs in both yeast
            and mammals. The heteroheptameric RFC complex plays a role in
            sister chromatid cohesion and may load the replication clamp PCNA
            (proliferating cell nuclear antigen) onto DNA during DNA
            replication and repair. This gene is ubiquitously expressed and has
            been shown to have reduced expression in renal and prostate tumors.
            Alternatively spliced transcript variants have been described. This
            gene has a pseudogene on chromosome X. [provided by RefSeq, Oct
            2018].
            Transcript Variant: This variant (1) represents the longer
            transcript.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2921
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..2921
                     /gene="CHTF8"
                     /gene_synonym="CTF8; DERPC"
                     /note="chromosome transmission fidelity factor 8"
                     /db_xref="GeneID:54921"
                     /db_xref="HGNC:HGNC:24353"
                     /db_xref="MIM:613202"
     CDS             141..506
                     /gene="CHTF8"
                     /gene_synonym="CTF8; DERPC"
                     /note="CTF8, chromosome transmission fidelity factor 8
                     homolog; decreased expression in renal and prostate cancer
                     protein"
                     /codon_start=1
                     /product="chromosome transmission fidelity protein 8
                     homolog"
                     /protein_id="NP_001034779.1"
                     /db_xref="CCDS:CCDS42185.1"
                     /db_xref="GeneID:54921"
                     /db_xref="HGNC:HGNC:24353"
                     /db_xref="MIM:613202"
                     /translation="MVQIVISSARAGGLAEWVLMELQGEIEARYSTGLAGNLLGDLHYT
                     TEGIPVLIVGHHILYGKIIHLEKPFAVLVKHTPGDQDCDELGRETGTRYLVTALIKDKI
                     LFKTRPKPIITSVPKKV"
     regulatory      2902..2907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHTF8"
                     /gene_synonym="CTF8; DERPC"
                     /note="hexamer: AATAAA"
     polyA_site      2921
                     /gene="CHTF8"
                     /gene_synonym="CTF8; DERPC"
                     /note="major polyA site"
ORIGIN
        1 agtcggaagt gcgcaggcag tgctcgcggc ggcggcgacg gcggcgggag gttcggttgt
       61 cgcccgttgg ccgcgcggcg ccgcgctcgg cggccgccat tgcagcttgt tttcacttgc
      121 tttttaaaga cagaaagctc atggtgcaaa ttgttatttc cagtgcgagg gctggaggcc
      181 tggcagaatg ggtgctgatg gagctacagg gggagatcga ggctcgctac agcactggat
      241 tagctggaaa cctcctggga gacctacatt acaccactga gggaatccct gtgctgatcg
      301 tggggcatca tatcctgtat gggaaaatca tccacctgga gaaacctttt gcagtccttg
      361 tcaaacacac tcctggggat caggactgtg atgagcttgg ccgcgagact ggcacccggt
      421 acctggtgac agcactcatc aaagacaaga tccttttcaa aacccgcccc aagcccatta
      481 tcaccagcgt ccccaagaaa gtatgaaaga acctcggatt ttccctagag agcggccaac
      541 tccttggact cgtgctccgc tgccacctcg aggacggctc gacggttccc tgggaccaca
      601 ggggggtcct gttctgaaca caggccaccc actgggtgtg aactcggatc ccttccttat
      661 ggcggccggt tctcttggtg gaaatctgac cccatttcca aggaacccat ctccttttcc
      721 agcttcatca ggctcattgg cttcaaatcc agcacctttc ccggctggtg ctcgtgaccc
      781 aagtatggct tcttttccaa gagggatgaa tcccactggc acaggtgcag tttctttccc
      841 aaggcctggt ggcctcttgg ggccaggccc aggcccaggc cccaccctaa accctaggac
      901 aggggctctg ccaggcccag ggcctctgtc taaccccagg ttagggggtc tcccaggacc
      961 aggtcctatg tccaacccaa gggcaggtgg tctcctggga gcaggtcctg accccagagg
     1021 tggtggtccc atgggccctg gatctggacc taacctgaga gccggtgttc tgttaacctc
     1081 tgggaatggt cctcccaatc ctaggccagt tggcctgggc ccaggaccaa accccaatct
     1141 gagatcaggc tttttaggga caaaccctgc ccccaggtca ggtgtgtttc caggcccagg
     1201 ccttgggccc aacccaagac caagtggcct gggcccaggc cctaatctag atgccagagc
     1261 aggtggcctc ttgggcacag gatctggtct taacttaaga atggctggac ctcaaggcct
     1321 cgatcttgcc cccattctaa gagcagcagg tcttttagga gcaaattcag cttctttctc
     1381 acaggcttct ggaaacatgg gcacaagccc atcctccatg gcaagagtac ctggccccat
     1441 gggcccaaac tcgggtccta gctctcgggg aattggcctt ccagggccaa atccatctcc
     1501 catgtcaagg gctcctggcc ccataggccc taattcagct catttctcaa ggccagttgg
     1561 ccccatgggg gtaaatgcca atccctttcc caggggagca ggttcatctg ccttttctca
     1621 gtcttctggc acattggcat caaacccagc taccttccaa aggtccgctg gcctccaggg
     1681 ctcaaatcca accattttcc caagagcctc tgggccactt ggccccaacc cagctaactt
     1741 cccaagggcc actggcctgc agggtccaag tccaactacc ttcccaaggt ctactggccc
     1801 attaggccct ggtcaagtta ctttccccag gccagctgcc gggcatctgg gcccttctcc
     1861 agctggccct gtgggtatca acccagctcc tttcacaagg ccaactggga ccctgggtct
     1921 caacccagct tcctttccaa ggatgaatgg ccctgcaggc aagagtttcg tcccatttcc
     1981 tagagtgggg agcctccctg gcacaaaccc agctgctttc cccagaccag ggggtccaat
     2041 ggctgcaatg tacccaaatg gaatgttgcc cccttaaaca ccattttccc tccaggacca
     2101 ccttggtttc taggcactgt ggttcttggc aggggctgtc ttaggtaaaa gggtagttgt
     2161 ggagctacag tctgaagaac atagcttggg ctcaagttca aatgagccat ctttttcctt
     2221 tgcgtttttc ttgactgaag gtgagatgtt atttgtggca tgtgaactgt ggcaggtggg
     2281 aataatcctg cccttgagag aaaggatctc cagcctccca gaagcctgct gtgctttcgt
     2341 cccacagctt tctgcccatt gtttcttact agtttcttga attgttcttg tggacttttc
     2401 ctcagggata cattggcctg caggtcccag ttcacatgta gtcccctgct caccattgga
     2461 gaatcagctc actgctctct agaaacgtgg cgttggtgaa cggaccatgc ttccgtagct
     2521 ctgacctggg cagcttggac ctggtcatcc tctactgcca tacctttccc tgggggcttg
     2581 aacacagaac agggagatgg acaaccactt caaagaaaga cccaccgaat gcagtttctg
     2641 cttgactgac tgggcctgca gctcccttct cctgggactt agaggtggcc agatttaagg
     2701 cccctctact catccaactc cctcttcact ggtactccca atcaatcaaa gaacctcaaa
     2761 atttaaactg atgtggatgg gaatatggga attagggtgg gggtggggga tgaagggaag
     2821 aaatcactgt gctttgttcg gcctggtgtg caaggatggt tggtggtttt cctgcattgt
     2881 atcttttctt actgtttctt taataaatgg gatgagaggg c
//
LOCUS       NM_001039693            5123 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens tRNA-yW synthesizing protein 5 (TYW5), transcript
            variant 1, mRNA.
ACCESSION   NM_001039693
VERSION     NM_001039693.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5123)
  AUTHORS   Zhang C, Li X, Zhao L, Liang R, Deng W, Guo W, Wang Q, Hu X, Du X,
            Sham PC, Luo X and Li T.
  TITLE     Comprehensive and integrative analyses identify TYW5 as a
            schizophrenia risk gene
  JOURNAL   BMC Med 20 (1), 169 (2022)
   PUBMED   35527273
  REMARK    GeneRIF: Comprehensive and integrative analyses identify TYW5 as a
            schizophrenia risk gene. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5123)
  AUTHORS   Li S, Li J, Liu J, Wang J, Li X, Huo Y, Li Y, Liu Y, Li M, Xiao X
            and Luo XJ.
  TITLE     Regulatory variants at 2q33.1 confer schizophrenia risk by
            modulating distal gene TYW5 expression
  JOURNAL   Brain 145 (2), 770-786 (2022)
   PUBMED   34581804
  REMARK    GeneRIF: Regulatory variants at 2q33.1 confer schizophrenia risk by
            modulating distal gene TYW5 expression.
REFERENCE   3  (bases 1 to 5123)
  AUTHORS   Ripke S, O'Dushlaine C, Chambert K, Moran JL, Kahler AK, Akterin S,
            Bergen SE, Collins AL, Crowley JJ, Fromer M, Kim Y, Lee SH,
            Magnusson PK, Sanchez N, Stahl EA, Williams S, Wray NR, Xia K,
            Bettella F, Borglum AD, Bulik-Sullivan BK, Cormican P, Craddock N,
            de Leeuw C, Durmishi N, Gill M, Golimbet V, Hamshere ML, Holmans P,
            Hougaard DM, Kendler KS, Lin K, Morris DW, Mors O, Mortensen PB,
            Neale BM, O'Neill FA, Owen MJ, Milovancevic MP, Posthuma D, Powell
            J, Richards AL, Riley BP, Ruderfer D, Rujescu D, Sigurdsson E,
            Silagadze T, Smit AB, Stefansson H, Steinberg S, Suvisaari J, Tosato
            S, Verhage M, Walters JT, Levinson DF, Gejman PV, Kendler KS,
            Laurent C, Mowry BJ, O'Donovan MC, Owen MJ, Pulver AE, Riley BP,
            Schwab SG, Wildenauer DB, Dudbridge F, Holmans P, Shi J, Albus M,
            Alexander M, Campion D, Cohen D, Dikeos D, Duan J, Eichhammer P,
            Godard S, Hansen M, Lerer FB, Liang KY, Maier W, Mallet J, Nertney
            DA, Nestadt G, Norton N, O'Neill FA, Papadimitriou GN, Ribble R,
            Sanders AR, Silverman JM, Walsh D, Williams NM, Wormley B, Arranz
            MJ, Bakker S, Bender S, Bramon E, Collier D, Crespo-Facorro B, Hall
            J, Iyegbe C, Jablensky A, Kahn RS, Kalaydjieva L, Lawrie S, Lewis
            CM, Lin K, Linszen DH, Mata I, McIntosh A, Murray RM, Ophoff RA,
            Powell J, Rujescu D, Van Os J, Walshe M, Weisbrod M, Wiersma D,
            Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP,
            Corvin AP, Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew
            CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC,
            Viswanathan AC, Wood NW, Spencer CC, Band G, Bellenguez C, Freeman
            C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson RD, Strange A,
            Su Z, Vukcevic D, Donnelly P, Langford C, Hunt SE, Edkins S,
            Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Gray E,
            Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC,
            Ravindrarajah R, Ricketts M, Tashakkori-Ghanbaria A, Waller MJ,
            Weston P, Widaa S, Whittaker P, Barroso I, Deloukas P, Mathew CG,
            Blackwell JM, Brown MA, Corvin AP, McCarthy MI, Spencer CC, Bramon
            E, Corvin AP, O'Donovan MC, Stefansson K, Scolnick E, Purcell S,
            McCarroll SA, Sklar P, Hultman CM and Sullivan PF.
  CONSRTM   Multicenter Genetic Studies of Schizophrenia Consortium; Psychosis
            Endophenotypes International Consortium; Wellcome Trust Case Control
            Consortium 2
  TITLE     Genome-wide association analysis identifies 13 new risk loci for
            schizophrenia
  JOURNAL   Nat Genet 45 (10), 1150-1159 (2013)
   PUBMED   23974872
REFERENCE   4  (bases 1 to 5123)
  AUTHORS   Kato M, Araiso Y, Noma A, Nagao A, Suzuki T, Ishitani R and Nureki
            O.
  TITLE     Crystal structure of a novel JmjC-domain-containing protein, TYW5,
            involved in tRNA modification
  JOURNAL   Nucleic Acids Res 39 (4), 1576-1585 (2011)
   PUBMED   20972222
REFERENCE   5  (bases 1 to 5123)
  AUTHORS   Noma A, Ishitani R, Kato M, Nagao A, Nureki O and Suzuki T.
  TITLE     Expanding role of the jumonji C domain as an RNA hydroxylase
  JOURNAL   J Biol Chem 285 (45), 34503-34507 (2010)
   PUBMED   20739293
REFERENCE   6  (bases 1 to 5123)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.256332.1,
            SRR18074967.1868253.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000354611.9/ ENSP00000346627.4
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC132835.1, AC097717.3 and BM673915.1.
            On Nov 22, 2018 this sequence version replaced NM_001039693.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and is the protein-coding transcript.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5123
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     gene            1..5123
                     /gene="TYW5"
                     /gene_synonym="C2orf60; hTYW5"
                     /note="tRNA-yW synthesizing protein 5"
                     /db_xref="GeneID:129450"
                     /db_xref="HGNC:HGNC:26754"
                     /db_xref="MIM:619882"
     misc_feature    13..15
                     /gene="TYW5"
                     /gene_synonym="C2orf60; hTYW5"
                     /note="upstream in-frame stop codon"
     CDS             22..969
                     /gene="TYW5"
                     /gene_synonym="C2orf60; hTYW5"
                     /EC_number="1.14.11.42"
                     /note="tRNA yW-synthesizing enzyme 5; jmjC
                     domain-containing protein C2orf60; tRNA(Phe)
                     (7-(3-amino-3-carboxypropyl)wyosine(37)-C(2))-hydroxylase"
                     /codon_start=1
                     /product="tRNA wybutosine-synthesizing protein 5"
                     /protein_id="NP_001034782.1"
                     /db_xref="CCDS:CCDS42795.1"
                     /db_xref="GeneID:129450"
                     /db_xref="HGNC:HGNC:26754"
                     /db_xref="MIM:619882"
                     /translation="MAGQHLPVPRLEGVSREQFMQHLYPQRKPLVLEGIDLGPCTSKWT
                     VDYLSQVGGKKEVKIHVAAVAQMDFISKNFVYRTLPFDQLVQRAAEEKHKEFFVSEDEK
                     YYLRSLGEDPRKDVADIRKQFPLLKGDIKFPEFFKEEQFFSSVFRISSPGLQLWTHYDV
                     MDNLLIQVTGKKRVVLFSPRDAQYLYLKGTKSEVLNIDNPDLAKYPLFSKARRYECSLE
                     AGDVLFIPALWFHNVISEEFGVGVNIFWKHLPSECYDKTDTYGNKDPTAASRAAQILDR
                     ALKTLAELPEEYRDFYARRMVLHIQDKAYSKNSE"
     regulatory      1124..1129
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TYW5"
                     /gene_synonym="C2orf60; hTYW5"
                     /note="hexamer: ATTAAA"
     polyA_site      1145
                     /gene="TYW5"
                     /gene_synonym="C2orf60; hTYW5"
                     /note="major polyA site"
     regulatory      2686..2691
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TYW5"
                     /gene_synonym="C2orf60; hTYW5"
                     /note="hexamer: ATTACA"
     polyA_site      2705
                     /gene="TYW5"
                     /gene_synonym="C2orf60; hTYW5"
     regulatory      4874..4879
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TYW5"
                     /gene_synonym="C2orf60; hTYW5"
                     /note="hexamer: ATTAAA"
     polyA_site      4895
                     /gene="TYW5"
                     /gene_synonym="C2orf60; hTYW5"
     regulatory      5104..5109
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TYW5"
                     /gene_synonym="C2orf60; hTYW5"
                     /note="hexamer: ATTAAA"
     polyA_site      5123
                     /gene="TYW5"
                     /gene_synonym="C2orf60; hTYW5"
ORIGIN
        1 agagggcagg cgtgagcaac catggccggg cagcacctcc cggtaccccg gctggagggc
       61 gtttctcggg agcagttcat gcagcacctc tacccacaga gaaaacctct tgtgttggaa
      121 gggattgatt tggggccatg tacaagcaaa tggacagtgg attacctaag ccaagttgga
      181 gggaagaaag aagtaaagat tcatgttgct gcagttgcac agatggactt cattagtaag
      241 aactttgtat atagaacttt accttttgac cagttggtcc agagggcagc tgaagagaaa
      301 cataaagaat tctttgtttc agaggatgag aaatactact tacggtcact tggagaagac
      361 cctagaaagg atgttgcaga tatcagaaag cagtttcctt tgttgaaagg agatattaag
      421 tttccagaat tcttcaaaga ggaacagttc ttttccagtg tttttcgaat tagttcacca
      481 ggattacaac tatggactca ttatgatgta atggataatt tgttaataca agtgacagga
      541 aaaaagcgtg ttgtactctt cagtcctcga gatgcccagt atttatattt aaaaggtact
      601 aaatcagaag tactgaatat agataaccca gacttggcta aatatccact tttttccaag
      661 gctagaagat atgaatgttc ccttgaagct ggtgatgtat tattcattcc tgctttatgg
      721 ttccataatg taatttctga agagtttgga gtgggagtga atatcttttg gaagcacctt
      781 ccatctgaat gctatgataa aacagatacc tatggaaaca aagatcctac agcagcatca
      841 agagctgcac aaattctgga cagagccttg aaaacactgg ccgagttacc agaggaatat
      901 agggacttct atgcacgacg aatggtccta cacattcaag acaaagccta cagcaagaac
      961 tctgagtaaa taatgaagtg aatgcaatgc acattaacac tttagtaagg tataacgata
     1021 taaattaaag attttgttaa aataggaaag atacatcaga tttacagatt atgtaagtac
     1081 gaaggggtgt ttgtgtggat tctacttgat acagattgtt ataattaaag aatgctgtgc
     1141 tgggaccact ctttaacatt cagatgctga ccactaaaag tccaacttaa aatgacttaa
     1201 aaacagtaag aaaatatatt gattcacaat acatgaaatc tattgacaga atgtgctgca
     1261 gtgtttctga tccaatgatt cagtaatgtc atcaagaacc ttgggaaccc gcctccacac
     1321 cccaccccct tttcaaccac aacattggca tcatcctaag gctggctacc ctcgtggtca
     1381 tgggatgatt gccagtagca gttggagcct tgtgcatctt catttacatg cagcggaaga
     1441 gtcaggctgg attctagggg ccctgtccta gtatgagaaa gctttcccag aattcacttt
     1501 ccatatcctt aggtctcatt gctctaaagt aacttagacc tgtccatccc tgagccagtc
     1561 actggcaaag ggtctagaat aacctttagg gcagtcaggt ccactggagc tgagagtaga
     1621 agtggaggcc acatgaggga tatatgggga cagaaaggat agttttttta aaatcatggt
     1681 tctgatagga aaaacatgag caacgcacaa tatctattac atttgcctag aagcagaatt
     1741 ttttgaggaa ctttaaaaaa tgtacagata cctaggtccc aactttgtag actgattcaa
     1801 gagtgtttgg gatttggtat aggaacttaa tagacctcac agggtgttct gatgcataat
     1861 cagagctgag atcaactgga gttgatgata gtgacttgga ttattagttt tgtgattagt
     1921 gcaaaacaaa tgtttaatct gatcttgact tttcttgcca cccagtatgt cagggtggtt
     1981 tttggttttt gaatgttaca aaataaataa tttataccta tgtctaaacc ttagcctagt
     2041 taaagatttc ccaactattt tttccaccta tccctttttt aaaagaaaaa ttacttaaag
     2101 aatgaataaa tgagatccta aaagtgttgt catcgaagac agtgagccat tgtgtgtgga
     2161 tctctgcttt tgttttgtac ctagtaatta tattgcagtg tcattgaaga ccacataatc
     2221 ttcactgaac ataaatgtgt tcatctaaag caatctctta gtacatcaat ttggtgcatt
     2281 ttaattagag aaaatcattt tctctattga agagaatcca tccactcatg tcctataaat
     2341 tatagtaaat aaggaaaagc atatataaca ttctgaattt cctaggtgtc tttggaaaca
     2401 ggtaagttac tcaggtgaat aaaggtgaaa aaagtcttgt cagaaaagga atgattatat
     2461 tagccaaatt taattaccag gttttgatct tcattaagca aagcaaagaa cttctttact
     2521 gattccttgt ccttcagtaa ggaaaaagac aaaactctcc ttagtttaca cattatttat
     2581 ggtcagtttt taataaatct tgtttttttt cttaaccagc aagagaattg atacaaagta
     2641 taaatccaga gtcatgtaga aaacttggaa gtattaataa aacagattac agtttgtgca
     2701 ctgaatagtc atcttaattg attgtttaat ggagaagcaa actggatgac cttagacaaa
     2761 ataacattta tctatgaagc ttattttcct catctttaaa acagaactac aaaaatgcag
     2821 agagttcaag ggcaggcaca tagttgataa ctggtgctag ttcttctatt taattatatt
     2881 ccatctttgt tgagagattt gaggtagctc ctgttgcagt attaatttat aatattttaa
     2941 aagttagaga actttccttt gggatgtttt aaaattattt ccctggtcat aattaatatt
     3001 agggtctgtt tatttcaaat acaaaatatt ttaatctttt cttcctactg ggttaagacc
     3061 aaatgagatg tttgttttta atgtataaaa tcttatacag tgtatgttag ctgcaacttc
     3121 tcaggaattc tgaatcttag aactttttta ttgaaagaga tcttagaagc catctaacca
     3181 acccagattg cttaatgatt gtctgggttc acatagctat gggtgataga aaccgggatt
     3241 cgttgtgacc agtaattctc cattctccct aatgtgcagc acatctccag tacttctgaa
     3301 tagattacac agcttttctt tggctagttt gggggcttga cctgatgcaa aaaggaattt
     3361 ttttcctctg ccaacaaaat ttctcactgc actgcttgct acacagacaa gattcaaaat
     3421 aaaagtaatg gtgggtcagg tgccatggct catgcctgta atcccagcac tttgggaggc
     3481 cgaggtgggc agatcacgag gtcagatcaa gaccattctg gccaacatgg taaaaccccg
     3541 tctctactaa aaatagaaaa attaaatgtt acatgaaaaa catatttgaa actgtactgc
     3601 catttgtgta aaacaaggta tgtggtgtgt gaacatctta tttgcatatg catataatta
     3661 tctctaagga tgcacgagaa accagtgata attatgcctc caagaagagg ttcaactagg
     3721 tgggctgctt agaatctagt tttgtattat ttggactttt gttcacatta tcctttcaaa
     3781 atacatttta aaaatactat atgcaccgag gtgggtggat catctgaact caggagttcg
     3841 agaccagcct gggcaacatg gcgaaacctt gtctctacca aaaatacaga gaattagctg
     3901 gctgtggtgg tgtgcgcctg tagtcccagc tactcaggag gctaagatag gaggatcact
     3961 tgagcctggg aggtgcaggt tgcagtgagc tggaattgtg caactgcact ccagcctggg
     4021 tgacagagtg agaccctgtc tcaaaaaaaa aaaaaaaaaa aaaaatatta tatgcagagc
     4081 tggggagtgg tggtccacac ctgtagtccc agcatcttgg gaggctgagg caggaggagt
     4141 gcttgaagcc aggagttcaa gttcagtctg ggcaacatgg ggagacctgt ctcaaaaaaa
     4201 aaaactaaac agagtgtaat tattagcatt tcataacatt atttgtcttg gtatttgaat
     4261 acattagaat tctatttgtc ctgtaattaa tttctaactc actttgataa aataccaaaa
     4321 caaaggaaac aaagtcaaca aaacttaatt tgtatccttc atccttttga acagcagcta
     4381 tgtgaacatt tggaaagaac cttagtaagg cggcttttct atcacctata aaaagttgcc
     4441 aacagacatc aaaggagttg acaaaaaaaa aaaaaaaaaa atgcaggaag ctggaaggca
     4501 ggcctggatg gaattggaac tgtgctgctg tgactccttt ccccagtgct aaaaaataga
     4561 tgtagtcagg aggaactaac atagattggc agtcacccac acatctctgg tgttacctta
     4621 gtcttgtttc aagcatacaa gccacaagtt tttgggtgtc ttaaatatac ctaagttgta
     4681 gtctctattt atttttttat tatactttta agttctaggg tacatgtgca caacgtgcag
     4741 gtttgttaca tatgtataca tgtgccatgt tggtgtgctg cacccgttaa ctcgtcattt
     4801 acattaggta tatctcctaa tgctatccct tccccctccc ccaaccccac gatgtagtct
     4861 ctttctaagt tccattaaac agaatactaa aatgaccttt tttggtgact cttgcctgtc
     4921 tctaccacta actggcttaa aagctgctgg gtctcttcct ttgtaaagag caacatgagt
     4981 ttacagatga ggtctgtcta tatctcctct tatgtttttc tcttaagaac ttcaagtgaa
     5041 ataaaacaaa atagctcttt tatgaatact accttttgta ttttacctca taagatttaa
     5101 tgtattaaac atttctatac caa
//
LOCUS       NM_001039697            3000 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens small nuclear RNA activating complex polypeptide 3
            (SNAPC3), transcript variant 1, mRNA.
ACCESSION   NM_001039697
VERSION     NM_001039697.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3000)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 3000)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3000)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3000)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 3000)
  AUTHORS   Wu C, Ma MH, Brown KR, Geisler M, Li L, Tzeng E, Jia CY, Jurisica I
            and Li SS.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
REFERENCE   6  (bases 1 to 3000)
  AUTHORS   Ma B and Hernandez N.
  TITLE     A map of protein-protein contacts within the small nuclear
            RNA-activating protein complex SNAPc
  JOURNAL   J Biol Chem 276 (7), 5027-5035 (2001)
   PUBMED   11056176
REFERENCE   7  (bases 1 to 3000)
  AUTHORS   Henry RW, Ma B, Sadowski CL, Kobayashi R and Hernandez N.
  TITLE     Cloning and characterization of SNAP50, a subunit of the
            snRNA-activating protein complex SNAPc
  JOURNAL   EMBO J 15 (24), 7129-7136 (1996)
   PUBMED   9003788
REFERENCE   8  (bases 1 to 3000)
  AUTHORS   Bai L, Wang Z, Yoon JB and Roeder RG.
  TITLE     Cloning and characterization of the beta subunit of human proximal
            sequence element-binding transcription factor and its involvement in
            transcription of small nuclear RNA genes by RNA polymerases II and
            III
  JOURNAL   Mol Cell Biol 16 (10), 5419-5426 (1996)
   PUBMED   8816454
REFERENCE   9  (bases 1 to 3000)
  AUTHORS   Henry RW, Sadowski CL, Kobayashi R and Hernandez N.
  TITLE     A TBP-TAF complex required for transcription of human snRNA genes by
            RNA polymerase II and III
  JOURNAL   Nature 374 (6523), 653-656 (1995)
   PUBMED   7715707
REFERENCE   10  (bases 1 to 3000)
  AUTHORS   Bagramian,E.R., Bogdanova,E.A., Krymskaia,M.L. and Sokovykh,S.I.
  TITLE     [Diagnostic importance of determining 17-ketosteroids in gynecology]
  JOURNAL   Akush Ginekol (Mosk) (2), 65-67 (1977)
   PUBMED   900378
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.832476.1, BC108743.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380821.8/ ENSP00000370200.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL441925.16.
            On Apr 8, 2021 this sequence version replaced NM_001039697.1.
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3000
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p22.3"
     gene            1..3000
                     /gene="SNAPC3"
                     /gene_synonym="PTFbeta; SNAP50"
                     /note="small nuclear RNA activating complex polypeptide 3"
                     /db_xref="GeneID:6619"
                     /db_xref="HGNC:HGNC:11136"
                     /db_xref="MIM:602348"
     CDS             5..1240
                     /gene="SNAPC3"
                     /gene_synonym="PTFbeta; SNAP50"
                     /note="isoform 1 is encoded by transcript variant 1;
                     snRNA-activating protein complex subunit 3; SNAPc subunit
                     3; PTF subunit beta; SNAPc 50 kDa subunit; PSE-binding
                     factor subunit beta; snRNA-activating protein complex 50
                     kDa subunit; proximal sequence element-binding
                     transcription factor subunit beta; small nuclear RNA
                     activating complex, polypeptide 3, 50kD; small nuclear RNA
                     activating complex, polypeptide 3, 50kDa"
                     /codon_start=1
                     /product="snRNA-activating protein complex subunit 3
                     isoform 1"
                     /protein_id="NP_001034786.1"
                     /db_xref="CCDS:CCDS6478.1"
                     /db_xref="GeneID:6619"
                     /db_xref="HGNC:HGNC:11136"
                     /db_xref="MIM:602348"
                     /translation="MAEGSRGGPTCSGVGGRQDPVSGSGGCNFPEYELPELNTRAFHVG
                     AFGELWRGRLRGAGDLSLREPPASALPGSQAADSDREDAAVARDLDCSLEAAAELRAVC
                     GLDKLKCLEDGEDPEVIPENTDLVTLGVRKRFLEHREETITIDRACRQETFVYEMESHA
                     IGKKPENSADMIEEGELILSVNILYPVIFHKHKEHKPYQTMLVLGSQKLTQLRDSIRCV
                     SDLQIGGEFSNTPDQAPEHISKDLYKSAFFYFEGTFYNDKRYPECRDLSRTIIEWSESH
                     DRGYGKFQTARMEDFTFNDLCIKLGFPYLYCHQGDCEHVIVITDIRLVHHDDCLDRTLY
                     PLLIKKHWLWTRKCFVCKMYTARWVTNNDSFAPEDPCFFCDVCFRMLHYDSEGNKLGEF
                     LAYPYVDPGTFN"
     misc_feature    5..70
                     /gene="SNAPC3"
                     /gene_synonym="PTFbeta; SNAP50"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92966.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    191..250
                     /gene="SNAPC3"
                     /gene_synonym="PTFbeta; SNAP50"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92966.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2979..2984
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNAPC3"
                     /gene_synonym="PTFbeta; SNAP50"
                     /note="hexamer: AATAAA"
     polyA_site      3000
                     /gene="SNAPC3"
                     /gene_synonym="PTFbeta; SNAP50"
                     /note="major polyA site"
ORIGIN
        1 gaacatggct gaaggaagcc gaggtggccc tacgtgtagc ggggtgggtg gcaggcagga
       61 cccagtctcc ggcagtggcg gctgcaactt tccagagtat gagcttcccg agctaaatac
      121 gcgcgctttc catgtgggcg cctttgggga gctgtggcgg ggccgtctgc gcggggccgg
      181 ggacttgtcg ctgagggagc cgccggcatc cgctctgcct gggagccagg cagctgactc
      241 cgaccgggag gatgccgcgg tggccaggga tctggactgc agcctggagg cggcggctga
      301 gctgagggcg gtgtgcggcc ttgataaact gaaatgcctt gaggacggtg aggatccaga
      361 agtcattccg gagaatactg acctggtgac tttgggggtt agaaaaaggt tcttggaaca
      421 tcgggaagaa accattacaa tagatcgagc ctgcagacaa gaaacattcg tttatgagat
      481 ggagtcacat gccataggaa aaaagcctga aaattcagca gacatgattg aagaagggga
      541 gcttatccta tctgtgaata tcttgtaccc tgttatattt cataagcaca aagaacacaa
      601 accataccaa acaatgctgg tgttgggcag tcaaaaactc acacaactga gggattcaat
      661 tcgatgtgtc agtgacctcc agattggtgg tgaattcagc aacactcctg accaagcccc
      721 tgagcacatc agcaaagacc tatacaaatc agccttcttt tattttgaag gaacatttta
      781 taatgataaa agatacccag aatgcagaga tttgagcaga actatcattg agtggtcaga
      841 gtcccatgat agaggctatg gaaagtttca gactgctaga atggaagatt tcaccttcaa
      901 tgacttgtgt attaaactgg gttttcctta cttatactgt catcagggag actgtgaaca
      961 tgtcattgtc attactgaca taaggcttgt gcatcatgat gactgcttgg ataggacatt
     1021 gtatcccctc cttatcaaga agcattggct atggaccaga aaatgttttg tttgtaaaat
     1081 gtatacagcc agatgggtga cgaacaatga cagttttgca ccagaggacc catgcttctt
     1141 ttgtgatgtt tgcttccgaa tgctgcacta tgattcagaa ggcaacaaac tgggggaatt
     1201 ccttgcttat ccttatgttg atcctggaac ctttaattaa gaatagctac actcacaaaa
     1261 ataccccctc atgaaataac tgttctcttg gatggttacc ttatttctaa gaaacgccac
     1321 tgaggaacag gatccacttt gaacagtccg ctaaagctat caaaaaaaag tccaaatgac
     1381 agattttctt ataatgatag tatttaaatg tttataacat agtttaattt tatatttatt
     1441 ccagatagta tttaatttag tgctttttac ccattttgag ttgagttgta gtactttata
     1501 tattctgact ttaaatcctt tgtcagacac acatattctt tctcccaatc catgccttcc
     1561 ctattcattc tctgtccaga gttttttgct aaagatagaa ttattaatga tacatcaagt
     1621 agtggaagtg ttttgaaaat tctttgaaga atgtgagagc tacaccttct accatgaggc
     1681 ttccaaggta aagatccttc aaataactgt aatggaaact agggagaatg aattatttac
     1741 aaataagaca aaattaatag ctttgggatt atttattttt tgagacaaaa tctcgctctt
     1801 gttgcccagg ctggaataca gtggcgcaat ctcagctcac tgcagcctcc gcctcccgga
     1861 ttcaagtgat tctcctgcca cagcctcctg agtagctggg attgcaggca cctggcacca
     1921 tgcctggcta atttttgtat ttttagtaga gacggggttt caccatgttg gccaggctgg
     1981 tctcaaactc ctaacctcag gcgatccacc cgcctaagcc tcccaaaatt ttgggatcac
     2041 aggcgtgagc caccgcgccc ggctgctttg ggggaattta atcttagtgt gctgtttagt
     2101 aatgttaggt tttgttttgg aggaaactag gcatacaaga catgttaata agactatgtg
     2161 aataatgaat ttaaaaagat cttgagtata tactcataac tccagaaata acattaactt
     2221 gaagctttat ttcttgacaa aagctttatg aatgttatga gtttaaaata tgtcaattta
     2281 atactatgat ttaaaaaaca atagcagatt tcgtatgact gtggggacat ggaaaaatca
     2341 agatcctatt gattgctagc tctggctcac ttattctccg gtaatgatac tattggatat
     2401 ataccaaaat tatataagca aaaagaaaaa aaataagttt tcctggccca ggtcttccat
     2461 tcttctggtc cccttactat agtaattcta gttactctca tcttattctg aggaaaaaaa
     2521 aaaaaaccaa aactttttaa acttattttt tgacataggg tcttactgtg tcacccaggc
     2581 tggagtacag tggcgtgatc ttggctcact ggagccctga cctccctagg ctcaggtgat
     2641 cctcccacct cagcctaccg agtagctgag acatggtggc acaggccacc atggcgggct
     2701 aattttttta tttcttgtag atacagggtt tcactatgtt gcgcagaata gtctcgaact
     2761 cctgacctca agtgatccat ccgccttggc ctcccagagt gctgcgatta caggcatgaa
     2821 ccacagcgcc cagcaaaata aactttcttt attttcaggt ctagaccatc agatagattt
     2881 attcaaatat tttctgggaa cctttatggg tagaacattt aatactgttt agaagacttt
     2941 taggaatact atagatttca aatgcatcat ttaaaataaa taaattccac tttctctctc
//
LOCUS       NM_001039702            1629 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 2,
            mRNA.
ACCESSION   NM_001039702
VERSION     NM_001039702.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1629)
  AUTHORS   Ritchie MK, Johnson LC, Clodfelter JE, Pemble CW 4th, Fulp BE,
            Furdui CM, Kridel SJ and Lowther WT.
  TITLE     Crystal Structure and Substrate Specificity of Human Thioesterase 2:
            INSIGHTS INTO THE MOLECULAR BASIS FOR THE MODULATION OF FATTY ACID
            SYNTHASE
  JOURNAL   J Biol Chem 291 (7), 3520-3530 (2016)
   PUBMED   26663084
REFERENCE   2  (bases 1 to 1629)
  AUTHORS   Nakamura N, Shimaoka Y, Tougan T, Onda H, Okuzaki D, Zhao H,
            Fujimori A, Yabuta N, Nagamori I, Tanigawa A, Sato J, Oda T,
            Hayashida K, Suzuki R, Yukioka M, Nojima H and Ochi T.
  TITLE     Isolation and expression profiling of genes upregulated in bone
            marrow-derived mononuclear cells of rheumatoid arthritis patients
  JOURNAL   DNA Res 13 (4), 169-183 (2006)
   PUBMED   17082220
REFERENCE   3  (bases 1 to 1629)
  AUTHORS   Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS,
            Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A,
            Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer
            N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White
            TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC,
            Thal L, Owen M, Williams J and Goate A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK001844.1, SRR5189667.186150.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145313 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378228.8/ ENSP00000367473.4
            RefSeq Select criteria      :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC050372.1, BG281536.1, AK001968.1 and AL590365.14.
            On Jun 2, 2019 this sequence version replaced NM_001039702.2.
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the coding region, compared to variant 1. This results in a
            shorter protein (isoform 2), compared to isoform 1.
FEATURES             Location/Qualifiers
     source          1..1629
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p13"
     gene            1..1629
                     /gene="OLAH"
                     /gene_synonym="AURA1; SAST; TE2; THEDC1"
                     /note="oleoyl-ACP hydrolase"
                     /db_xref="GeneID:55301"
                     /db_xref="HGNC:HGNC:25625"
     misc_feature    145..147
                     /gene="OLAH"
                     /gene_synonym="AURA1; SAST; TE2; THEDC1"
                     /note="upstream in-frame stop codon"
     CDS             208..1005
                     /gene="OLAH"
                     /gene_synonym="AURA1; SAST; TE2; THEDC1"
                     /EC_number="3.1.2.14"
                     /note="isoform 2 is encoded by transcript variant 2;
                     thioesterase domain containing 1; S-acyl fatty acid
                     synthase thioesterase, medium chain; augmented in
                     rheumatoid arthritis 1; thioesterase II; thioesterase
                     domain-containing protein 1; oleoyl-acyl-carrier-protein
                     hydrolase; thioesterase 2"
                     /codon_start=1
                     /product="S-acyl fatty acid synthase thioesterase, medium
                     chain isoform 2"
                     /protein_id="NP_001034791.1"
                     /db_xref="CCDS:CCDS31152.1"
                     /db_xref="GeneID:55301"
                     /db_xref="HGNC:HGNC:25625"
                     /translation="MERGDQPKRTRNENIFNCLYKNPEATFKLICFPWMGGGSTHFAKW
                     GQDTHDLLEVHSLRLPGRESRVEEPLENDISQLVDEVVCALQPVIQDKPFAFFGHSMGS
                     YIAFRTALGLKENNQPEPLHLFLSSATPVHSKAWHRIPKDDELSEEQISHYLMEFGGTP
                     KHFAEAKEFVKQCSPIIRADLNIVRSCTSNVPSKAVLSCDLTCFVGSEDIAKDMEAWKD
                     VTSGNAKIYQLPGGHFYLLDPANEKLIKNYIIKCLEVSSISNF"
     misc_feature    208..210
                     /gene="OLAH"
                     /gene_synonym="AURA1; SAST; TE2; THEDC1"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000250|UniProtKB:P08635; propagated from
                     UniProtKB/Swiss-Prot (Q9NV23.1); acetylation site"
     regulatory      1607..1612
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OLAH"
                     /gene_synonym="AURA1; SAST; TE2; THEDC1"
                     /note="hexamer: AGTAAA"
     polyA_site      1629
                     /gene="OLAH"
                     /gene_synonym="AURA1; SAST; TE2; THEDC1"
                     /note="major polyA site"
ORIGIN
        1 atctttcaga ttgtctgctc agagttcatc tcaaagcctg gcaaggattg gagaggtcaa
       61 taagagtcag cgcctttaaa aagaaatcta ctcactcttc tgtgtgcata aggccgagca
      121 gaggttcttc gtctcaagag gaactgactt ctgttgagca ctcaacacgc cacagagacc
      181 agccatcttg caacctcacc tcacagcatg gagagaggag accaacctaa gagaaccagg
      241 aatgaaaaca ttttcaactg cttatacaaa aaccctgagg caacttttaa gctgatttgc
      301 tttccctgga tgggaggtgg ctccactcat tttgccaaat ggggccaaga tactcatgat
      361 ttgctggaag tgcactcctt aaggcttcct ggaagagaaa gcagagttga agaacctctt
      421 gaaaatgaca tctcccagtt agttgatgaa gttgtttgtg ctctgcagcc agtcatccag
      481 gataaaccat ttgcattttt tggccacagt atgggatcct acattgcttt taggactgca
      541 ctaggtctaa aagaaaacaa tcaaccagaa ccattgcatt tatttttgtc aagtgcaact
      601 cctgtacatt caaaggcctg gcatcgcatt cccaaagatg atgaattgtc agaagaacaa
      661 ataagtcatt accttatgga atttggaggc acccccaagc attttgctga agccaaggaa
      721 tttgtgaaac aatgtagtcc catcataagg gcagatctga acattgttag aagttgcacc
      781 tctaacgtac catctaaggc tgttctttcc tgtgacttga catgttttgt tggatctgaa
      841 gacatagcaa aggacatgga agcctggaaa gatgtaacca gtggaaatgc taaaatttac
      901 cagcttccag ggggtcactt ttatcttctg gatcctgcga acgagaaatt aatcaagaac
      961 tacataatca agtgtctaga agtatcatcg atatccaatt tttagatatt ttccctttca
     1021 cttttaaaat aatcaaagta atatcatact cttctcagtt attcagatat agctcagttt
     1081 tattcagatt ggaaattaca cattttctac tgtcagggag attcgttaca taaatatatt
     1141 tacgtatctg gggacaaagg tcaagccagt aaagaatact tctggcagca ctttgggagg
     1201 ccaaggcggg cggatcacga ggtcaggaga tcgagaccgt cctggctaac accgtgaaac
     1261 cccatctcta ctaaaaatac acaaaattag ccgggcgtgg tggtgggcac ctgtagtccc
     1321 agctactcgg gaggctgagg caggagaatg gtgtgaacct gggaggtgga gcttgcagtg
     1381 aaccgagatc gctccactgc actccagcct gggtgacaga tccagactct gtctcaaaaa
     1441 aaaaaaaaaa aaaaatactt ctggcagagt cttttatctt cctattaaaa tctcacttga
     1501 ttctccttta tgggaagttt gtcgacaaaa ttcatgatta gtaaattatc cattttttcc
     1561 ttcagttagt ttaatggtga agatgattaa caggggaaat gcttgaagta aatgattgtt
     1621 tcaatggca
//
LOCUS       NM_001039705            4634 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens trophinin (TRO), transcript variant 6, mRNA.
ACCESSION   NM_001039705
VERSION     NM_001039705.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4634)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (bases 1 to 4634)
  AUTHORS   Cai P, Lu Y, Yin Z, Wang X, Zhou X and Li Z.
  TITLE     Trophinin Is an Important Biomarker and Prognostic Factor in
            Osteosarcoma: Data Mining from Oncomine and the Cancer Genome Atlas
            Databases
  JOURNAL   Biomed Res Int 2021, 6885897 (2021)
   PUBMED   34307667
  REMARK    GeneRIF: Trophinin Is an Important Biomarker and Prognostic Factor
            in Osteosarcoma: Data Mining from Oncomine and the Cancer Genome
            Atlas Databases. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4634)
  AUTHORS   Dolanbay EG, Yardimoglu M, Yalcinkaya E, Yazir Y, Aksoy A, Karaoz E
            and Caliskan E.
  TITLE     Expression of trophinin and dipeptidyl peptidase IV in endometrial
            co-culture in the presence of an embryo: A comparative
            immunocytochemical study
  JOURNAL   Mol Med Rep 13 (5), 3961-3968 (2016)
   PUBMED   27035766
  REMARK    GeneRIF: Expression of trophinin and dipeptidyl peptidase IV in
            endometrial co-culture in the presence of an embryo: A comparative
            immunocytochemical study.
REFERENCE   4  (bases 1 to 4634)
  AUTHORS   Fukuda MN and Sugihara K.
  TITLE     Trophinin in cell adhesion and signal transduction
  JOURNAL   Front Biosci (Elite Ed) 4 (1), 342-350 (2012)
   PUBMED   22201876
  REMARK    GeneRIF: report dual roles for trophinin in human cancers in terms
            of promoting malignancy in some tumor types and suppressing it in
            others Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4634)
  AUTHORS   Aoyama J, Akazawa Y, Kasahara K, Higashiyama Y, Kikuchi I, Fukumoto
            Y, Saburi S, Nakayama Y, Fukuda MN and Yamaguchi N.
  TITLE     Nuclear localization of magphinins, alternative splicing products of
            the human trophinin gene
  JOURNAL   J Cell Biochem 103 (3), 765-777 (2008)
   PUBMED   17559068
  REMARK    GeneRIF: When magphinin-gamma was expressed in NIH3T3 cells, cells
            underwent G1 arrest. These results suggest that human
            magphinin-gamma inhibits cell cycle progression through nuclear
            activity. GeneRIF: Confocal microscopy analysis of ectopically
            expressed magphinins revealed that magphinin-alpha and -beta
            localize in the cytoplasm, whereas magphinin-gamma lacking the
            peptide encoded by exon-3 is nuclear.
REFERENCE   6  (bases 1 to 4634)
  AUTHORS   Chomez P, De Backer O, Bertrand M, De Plaen E, Boon T and Lucas S.
  TITLE     An overview of the MAGE gene family with the identification of all
            human members of the family
  JOURNAL   Cancer Res 61 (14), 5544-5551 (2001)
   PUBMED   11454705
REFERENCE   7  (bases 1 to 4634)
  AUTHORS   Suzuki N, Nakayama J, Shih IM, Aoki D, Nozawa S and Fukuda MN.
  TITLE     Expression of trophinin, tastin, and bystin by trophoblast and
            endometrial cells in human placenta
  JOURNAL   Biol Reprod 60 (3), 621-627 (1999)
   PUBMED   10026108
REFERENCE   8  (bases 1 to 4634)
  AUTHORS   Suzuki N, Zara J, Sato T, Ong E, Bakhiet N, Oshima RG, Watson KL and
            Fukuda MN.
  TITLE     A cytoplasmic protein, bystin, interacts with trophinin, tastin, and
            cytokeratin and may be involved in trophinin-mediated cell adhesion
            between trophoblast and endometrial epithelial cells
  JOURNAL   Proc Natl Acad Sci U S A 95 (9), 5027-5032 (1998)
   PUBMED   9560222
REFERENCE   9  (bases 1 to 4634)
  AUTHORS   Pack SD, Tanigami A, Ledbetter DH, Sato T and Fukuda MN.
  TITLE     Assignment of trophoblast/endometrial epithelium cell adhesion
            molecule trophinin gene TRO to human chromosome bands
            Xp11.22-->p11.21 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 79 (1-2), 123-124 (1997)
   PUBMED   9533028
REFERENCE   10  (bases 1 to 4634)
  AUTHORS   Fukuda MN, Sato T, Nakayama J, Klier G, Mikami M, Aoki D and Nozawa
            S.
  TITLE     Trophinin and tastin, a novel cell adhesion molecule complex with
            potential involvement in embryo implantation
  JOURNAL   Genes Dev 9 (10), 1199-1210 (1995)
   PUBMED   7758945
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.55688.1,
            SRR1660803.107329.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000173898.12/ ENSP00000173898.7
            RefSeq Select criteria      :: based on longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB177388.1, AB029037.2 and
            AF349719.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001039705.2.
            Summary: This gene encodes a membrane protein that mediates cell
            adhesion between trophoblastic cells and the epithelial cells of
            the endometrium. The encoded protein participates in cell
            signalling during embryo implantation, and may also be involved in
            cancer formation. This gene is located near several other closely
            related genes on chromosome X. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Sep 2012].
            Transcript Variant: This variant (6) represents the longest
            transcript and encodes the longest isoform (5).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4634
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.21"
     gene            1..4634
                     /gene="TRO"
                     /gene_synonym="MAGE-d3; MAGED3"
                     /note="trophinin"
                     /db_xref="GeneID:7216"
                     /db_xref="HGNC:HGNC:12326"
                     /db_xref="MIM:300132"
     CDS             100..4395
                     /gene="TRO"
                     /gene_synonym="MAGE-d3; MAGED3"
                     /note="isoform 5 is encoded by transcript variant 6; MAGE
                     superfamily protein; magphinin; MAGE-D3 antigen; melanoma
                     antigen, family D, 3"
                     /codon_start=1
                     /product="trophinin isoform 5"
                     /protein_id="NP_001034794.1"
                     /db_xref="CCDS:CCDS43959.1"
                     /db_xref="GeneID:7216"
                     /db_xref="HGNC:HGNC:12326"
                     /db_xref="MIM:300132"
                     /translation="MDRRNDYGYRVPLFQGPLPPPGSLGLPFPPDIQTETTEEDSVLLM
                     HTLLAATKDSLAMDPPVVNRPKKSKTKKAPIKTITKAAPAAPPVPAANEIATNKPKITW
                     QALNLPVITQISQALPTTEVTNTQASSVTAQPKKANKMKRVTAKAAQGSQSPTGHEGGT
                     IQLKSPLQVLKLPVISQNIHAPIANESASSQALITSIKPKKASKAKKAANKAIASATEV
                     SLAATATHTATTQGQITNETASIHTTAASIRTKKASKARKTIAKVINTDTEHIEALNVT
                     DAATRQIEASVVAIRPKKSKGKKAASRGPNSVSEISEAPLATQIVTNQALAATLRVKRG
                     SRARKAATKARATESQTPNADQGAQAKIASAQTNVSALETQVAAAVQALADDYLAQLSL
                     EPTTRTRGKRNRKSKHLNGDERSGSNYRRIPWGRRPAPPRDVAILQERANKLVKYLLVK
                     DQTKIPIKRSDMLRDVIQEYDEYFPEIIERASYTLEKMFRVNLKEIDKQSSLYILISTQ
                     ESSAGILGTTKDTPKLGLLMVILSVIFMNGNKASEAVIWEVLRKLGLRPGVRHSLFGEV
                     RKLITDEFVKQKYLEYKRVPNSRPPEYEFFWGLRSYHETSKMKVLKFACRVQKKDPKDW
                     AVQYREAVEMEVQAAAVAVAEAEARAEARAQMGIGEEAVAGPWNWDDMDIDCLTREELG
                     DDAQAWSRFSFEIEARAQENADASTNVNFSRGASTRAGFSDGASISFNGAPSSSGGFSG
                     GPGITFGVAPSTSASFSNTASISFGGTLSTSSSFSSAASISFGCAHSTSTSFSSEASIS
                     FGGMPCTSASFSGGVSSSFSGPLSTSATFSGGASSGFGGTLSTTAGFSGVLSTSTSFGS
                     APTTSTVFSSALSTSTGFGGILSTSVCFGGSPSSSGSFGGTLSTSICFGGSPCTSTGFG
                     GTLSTSVSFGGSSSTSANFGGTLSTSICFDGSPSTGAGFGGALNTSASFGSVLNTSTGF
                     GGAMSTSADFGGTLSTSVCFGGSPGTSVSFGSALNTNAGYGGAVSTNTDFGGTLSTSVC
                     FGGSPSTSAGFGGALNTNASFGCAVSTSASFSGAVSTSACFSGAPITNPGFGGAFSTSA
                     GFGGALSTAADFGGTPSNSIGFGAAPSTSVSFGGAHGTSLCFGGAPSTSLCFGSASNTN
                     LCFGGPPSTSACFSGATSPSFCDGPSTSTGFSFGNGLSTNAGFGGGLNTSAGFGGGLGT
                     SAGFSGGLSTSSGFDGGLGTSAGFGGGPGTSTGFGGGLGTSAGFSGGLGTSAGFGGGLV
                     TSDGFGGGLGTNASFGSTLGTSAGFSGGLSTSDGFGSRPNASFDRGLSTIIGFGSGSNT
                     STGFTGEPSTSTGFSSGPSSIVGFSGGPSTGVGFCSGPSTSGFSGGPSTGAGFGGGPNT
                     GAGFGGGPSTSAGFGSGAASLGACGFSYG"
     misc_feature    100..171
                     /gene="TRO"
                     /gene_synonym="MAGE-d3; MAGED3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12816.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1120..1194
                     /gene="TRO"
                     /gene_synonym="MAGE-d3; MAGED3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12816.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1300..1398
                     /gene="TRO"
                     /gene_synonym="MAGE-d3; MAGED3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12816.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2350..4389
                     /gene="TRO"
                     /gene_synonym="MAGE-d3; MAGED3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12816.3);
                     Region: 62 X 10 AA approximate tandem repeats"
     misc_feature    4123..4194
                     /gene="TRO"
                     /gene_synonym="MAGE-d3; MAGED3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12816.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4616..4621
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRO"
                     /gene_synonym="MAGE-d3; MAGED3"
                     /note="hexamer: ATTAAA"
     polyA_site      4634
                     /gene="TRO"
                     /gene_synonym="MAGE-d3; MAGED3"
                     /note="major polyA site"
ORIGIN
        1 agacacaagg agaggcttgg agagagcaga cgccttctgg attcaagaag acgaggccca
       61 ttcccctcag gctcacctgt tactcggcct cccagaaaga tggataggag aaatgactac
      121 ggatataggg tgcctctatt tcagggccct ctgcctcccc cggggagcct ggggcttccc
      181 ttccctccag atatacagac tgagaccaca gaagaggaca gtgtcctgct gatgcatacc
      241 ctgttggcgg caaccaagga ctccctggcc atggacccac cagttgtcaa ccggcctaag
      301 aaaagcaaga ccaagaaggc ccctataaag actattacta aggctgcacc tgctgcccct
      361 ccagtcccag ctgccaatga gattgccacc aacaagccca aaataacttg gcaggcttta
      421 aacctgccag tcattaccca gatcagccag gctttaccta ccactgaggt aaccaatact
      481 caggcttctt cagtcactgc tcagcctaag aaagccaaca agatgaagag agttactgcc
      541 aaggcagccc aaggctccca atccccaact ggccatgagg gtggcactat acagctgaag
      601 tcacccttgc aggtcctaaa gctaccagtc atctcacaga atattcacgc tccaattgcc
      661 aatgagtcag ccagttccca agccttgata acctctatca agcctaagaa agcttccaag
      721 gctaagaagg ctgcaaataa ggccatagct agtgccaccg aggtctcgct ggctgcaact
      781 gccacccata cagctaccac ccaaggccaa attaccaatg agacagccag tatccacacc
      841 acagcagcct ccatccgaac caagaaagcc tccaaagcca ggaagacaat tgctaaggtc
      901 ataaatactg acactgagca tatagaggct ctaaatgtca ctgacgcagc taccaggcag
      961 attgaggcct cagtagtggc tatcaggccc aaaaaatcca agggcaagaa ggctgccagc
     1021 aggggcccaa attctgtctc tgagatctct gaggccccac ttgccactca gatagtcaca
     1081 aaccaagccc tggcagccac cctgcgggtc aagagagggt ctagggctcg gaaggctgcc
     1141 actaaggctc gggcaactga aagccagact ccaaatgctg accaaggggc ccaggccaag
     1201 atagcctctg ctcagaccaa cgtaagtgcc cttgagactc aggttgctgc tgctgtccag
     1261 gccctggcag atgactatct ggctcagttg agcctggagc ccacaaccag gacccggggc
     1321 aaaagaaacc gaaagtccaa gcatctgaat ggggatgaga gaagtggcag taattacagg
     1381 cggatcccat ggggccggag gcctgcacca ccgcgagatg tggccatttt acaagaaagg
     1441 gctaataagt tggtgaaata cctgttggtt aaggaccaga caaagatccc catcaaacgc
     1501 tcagacatgc tgagggatgt catccaagaa tatgatgaat atttcccaga aatcattgaa
     1561 cgagcaagct acactctgga gaagatgttt cgagtcaatc tgaaagaaat tgataagcaa
     1621 agtagcttgt atattctcat cagcactcag gaatcctctg caggcatact gggaacgacc
     1681 aaggacacac ccaagctggg tctcctcatg gtgattctga gtgtcatttt tatgaatggc
     1741 aacaaggcca gtgaggctgt catctgggag gtgctgcgca agttggggct gcgccctggg
     1801 gtgaggcatt cactctttgg ggaagtgagg aagctcatca cagacgagtt tgtgaagcag
     1861 aagtacctgg agtacaagag ggtccctaac agcagaccac ctgaatatga gttcttctgg
     1921 ggcttgcgct cctaccacga gactagcaag atgaaagtcc tcaagtttgc atgcagggtg
     1981 cagaagaaag accccaagga ctgggctgtg cagtaccgcg aggcagtgga gatggaagtc
     2041 caagctgcag ctgtggctgt ggctgaggct gaagccaggg ctgaggcaag agcccaaatg
     2101 gggattggag aggaagctgt ggctgggccc tggaattggg atgacatgga tatcgactgc
     2161 ctaacaaggg aagagttagg cgatgatgct caggcctgga gcagattttc atttgaaatt
     2221 gaggccagag cccaagaaaa tgcagatgcc agcaccaacg tcaacttcag cagaggagct
     2281 agtaccaggg ctggcttcag cgatggtgct agtattagct tcaatggtgc acccagctcc
     2341 agtggtggct tcagtggtgg acctggcatt acctttggtg ttgcacccag caccagtgcc
     2401 agcttcagca atacagccag cattagcttt ggtggtacac tgagcactag ctccagcttc
     2461 agcagcgcag ccagcattag ctttggttgt gcacacagca ccagcactag tttcagcagt
     2521 gaagccagca ttagctttgg tggcatgcct tgtaccagtg ccagctttag tggtggagtc
     2581 agctctagtt ttagtggccc actcagcacc agtgccactt tcagtggtgg agccagctct
     2641 ggctttggag gcacactcag caccacggct ggctttagtg gtgtactcag cactagcacc
     2701 agctttggca gtgcacccac aacgagcaca gtcttcagta gtgcgcttag caccagcact
     2761 ggctttggag gcatactcag caccagtgtc tgttttggtg gctctcccag ctccagtggt
     2821 agctttggtg gtacactcag taccagtatc tgcttcggtg gctctccctg caccagcact
     2881 ggctttggag gcacacttag caccagtgtc tcctttggtg gctcttccag caccagtgcc
     2941 aattttggtg gtacactaag taccagcatc tgctttgatg gctctcccag cactggtgct
     3001 ggctttggtg gtgctctcaa caccagtgcc agctttggca gtgtgctcaa caccagtact
     3061 ggttttggtg gtgctatgag caccagtgct gactttggcg gtacactaag caccagtgtc
     3121 tgctttggtg gctctcctgg caccagtgtc agctttggca gtgcactcaa caccaatgct
     3181 ggttatggtg gtgctgtcag caccaacact gactttggtg gtacactaag caccagcgtc
     3241 tgttttggtg gctctcccag caccagtgct ggctttggtg gtgcactcaa caccaatgcc
     3301 agctttggct gtgccgtcag caccagtgcc agcttcagtg gtgctgtcag caccagtgct
     3361 tgcttcagtg gtgcaccaat caccaaccct ggctttggcg gtgcatttag caccagtgct
     3421 ggcttcggtg gggcacttag taccgctgct gacttcggtg gtactcccag caacagcatt
     3481 ggctttggtg ctgctcccag caccagtgtc agctttggtg gtgctcatgg caccagcctc
     3541 tgttttggtg gagctcccag caccagcctc tgctttggca gtgcatctaa tactaaccta
     3601 tgctttggtg gccctcctag caccagtgcc tgctttagtg gtgctaccag ccctagtttt
     3661 tgtgatggac ccagcaccag taccggtttc agctttggca atgggttaag caccaatgct
     3721 ggatttggtg gtggactgaa caccagtgct ggctttggtg gtggcctagg caccagtgct
     3781 ggcttcagtg gtggcctaag cacaagttct ggctttgatg gtgggctagg taccagcgct
     3841 ggcttcggtg gaggaccagg caccagcact ggttttggtg gtggactggg caccagtgct
     3901 ggcttcagtg gcggactggg caccagtgct ggctttggtg gtggactggt cactagtgat
     3961 ggctttggtg gtggactggg caccaatgct agtttcggca gcacacttgg caccagtgct
     4021 ggctttagtg gtggcctcag caccagcgat ggctttggca gtaggcctaa tgccagcttc
     4081 gacagaggac tgagtaccat cattggcttt ggcagtggtt ccaacaccag cactggcttt
     4141 actggcgaac ccagcaccag cacgggcttc agtagtggac ccagttctat tgttggcttc
     4201 agcggtggac caagcactgg tgttggcttc tgcagtggac caagcaccag tggcttcagc
     4261 ggtggaccga gcacaggagc tggcttcggc ggtggaccaa acactggtgc tggctttggt
     4321 ggtggaccga gcaccagtgc tggctttggc agtggagccg ccagtcttgg tgcctgtggc
     4381 ttctcgtatg gctagtgagg tttcagattt attccccatg tttacagata ccgctaataa
     4441 attgcagtag tccttcccat ggagccaaag tacatccttg gaatctttgt ccacacagca
     4501 gtcaaggcag ttatggccaa tcagctgagg gtgtcatgtg atggaaaaat ctgtttgctg
     4561 ttcctgcttt attgtttgct ttctgtgtgc tgtcatattt tggtatcaga gttacattaa
     4621 atttgcaaaa tgaa
//
LOCUS       NM_001039706            3902 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens cilia and flagella associated protein 69 (CFAP69),
            transcript variant 1, mRNA.
ACCESSION   NM_001039706
VERSION     NM_001039706.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3902)
  AUTHORS   Tang X, Ma J, Wang X, Long S, Wan L, Yu H, Yang J, Huang G and Lin
            T.
  TITLE     A novel variant in CFAP69 causes asthenoteratozoospermia with
            treatable ART outcomes and a literature review
  JOURNAL   J Assist Reprod Genet 40 (9), 2175-2184 (2023)
   PUBMED   37392306
  REMARK    GeneRIF: A novel variant in CFAP69 causes asthenoteratozoospermia
            with treatable ART outcomes and a literature review. Review article
REFERENCE   2  (bases 1 to 3902)
  AUTHORS   He X, Li W, Wu H, Lv M, Liu W, Liu C, Zhu F, Li C, Fang Y, Yang C,
            Cheng H, Zhang J, Tan J, Chen T, Tang D, Song B, Wang X, Zha X, Wang
            H, Wei Z, Yang S, Saiyin H, Zhou P, Jin L, Wang J, Zhang Z, Zhang F
            and Cao Y.
  TITLE     Novel homozygous CFAP69 mutations in humans and mice cause severe
            asthenoteratospermia with multiple morphological abnormalities of
            the sperm flagella
  JOURNAL   J Med Genet 56 (2), 96-103 (2019)
   PUBMED   30415212
  REMARK    GeneRIF: Homozygous loss-of-function mutations of CFAP69 are
            associated with abnormalities of the sperm flagella and severe
            asthenoteratospermia.
REFERENCE   3  (bases 1 to 3902)
  AUTHORS   Dong FN, Amiri-Yekta A, Martinez G, Saut A, Tek J, Stouvenel L,
            Lores P, Karaouzene T, Thierry-Mieg N, Satre V, Brouillet S,
            Daneshipour A, Hosseini SH, Bonhivers M, Gourabi H, Dulioust E,
            Arnoult C, Toure A, Ray PF, Zhao H and Coutton C.
  TITLE     Absence of CFAP69 Causes Male Infertility due to Multiple
            Morphological Abnormalities of the Flagella in Human and Mouse
  JOURNAL   Am J Hum Genet 102 (4), 636-648 (2018)
   PUBMED   29606301
  REMARK    GeneRIF: CFAP69 is necessary for flagellum assembly/stability and
            that in both humans and mice
REFERENCE   4  (bases 1 to 3902)
  AUTHORS   Pike BL, Greiner TC, Wang X, Weisenburger DD, Hsu YH, Renaud G,
            Wolfsberg TG, Kim M, Weisenberger DJ, Siegmund KD, Ye W, Groshen S,
            Mehrian-Shai R, Delabie J, Chan WC, Laird PW and Hacia JG.
  TITLE     DNA methylation profiles in diffuse large B-cell lymphoma and their
            relationship to gene expression status
  JOURNAL   Leukemia 22 (5), 1035-1043 (2008)
   PUBMED   18288132
  REMARK    GeneRIF: A CpG island proximal to FLJ21062 is frequently methylated
            in diffuse large B-cell lymphoma (DLBCL).
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC141834.1, SRR1803614.85057.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2142680 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000389297.8/ ENSP00000373948.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC402406.1, BC141834.1, BC140742.1 and BF112239.1.
            On Nov 23, 2018 this sequence version replaced NM_001039706.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3902
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.13"
     gene            1..3902
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /note="cilia and flagella associated protein 69"
                     /db_xref="GeneID:79846"
                     /db_xref="HGNC:HGNC:26107"
                     /db_xref="MIM:617949"
     misc_feature    207..209
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /note="upstream in-frame stop codon"
     CDS             252..3077
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 69 isoform
                     1"
                     /protein_id="NP_001034795.2"
                     /db_xref="CCDS:CCDS43613.2"
                     /db_xref="GeneID:79846"
                     /db_xref="HGNC:HGNC:26107"
                     /db_xref="MIM:617949"
                     /translation="MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKP
                     MDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQ
                     PRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCI
                     VDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQ
                     HLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLS
                     NLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFA
                     TFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIVILCKDLPTVQLLIDGKVILALFTY
                     VKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESED
                     PFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKN
                     IISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQS
                     GLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVE
                     FCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDTKKPLFTSFQ
                     EEQKIIPLPANCPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAEDFVTLCIIHRYLD
                     FKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDM
                     QNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQN
                     AIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVK
                     IVDAPKKSIPT"
     misc_feature    252..329
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /note="propagated from UniProtKB/Swiss-Prot (A5D8W1.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3878..3883
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /note="hexamer: TATAAA"
     regulatory      3882..3887
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /note="hexamer: AATATA"
     polyA_site      3896
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
     polyA_site      3902
                     /gene="CFAP69"
                     /gene_synonym="C7orf63; FAP69; SPGF24"
                     /note="major polyA site"
ORIGIN
        1 agcaacgcgc tggcttgtgt taacaaccgg cccgggatca gaggtctggg tcaactgggg
       61 ggcggcagcg gcgctaagcg gactgtatgg cggtggccta ggcccctggc ggaattttgg
      121 gacctttcgc gactctagcg actctcaggc tgccttccct tctcggtggc ggggcctctt
      181 tgggcccagc ggctgcgggc gcactgtagg acaggaagat ccccccactc tccaccccgc
      241 cgccaccggc catgtggaca gaggaagccg gggcgaccgc cgaggcccag gaatccggca
      301 tcaggaacaa gtctagcagt tccagtcaaa tcccggtggt tggggtggtg acggaggacg
      361 atgaggcgca ggatgttttc aagcctatgg accttaatcg tgtcatcaaa ctcctcgaag
      421 agactgataa agatggcttg gaagaaaaac aacttaaatt tgtcaagaaa ctggtacagt
      481 gttatcagaa tggacttcca ttaagggatt tagcacagat atttaaaatt ctgaatctgt
      541 gttcaggaaa aataaaaaac cagcctcgtt ttatagaatc tgcatatgat atcataaaac
      601 tgtgtggctt gccatttttg aaaaagaaag tgtcggatga aataacttat gctgaagata
      661 ctgctaattc aattgcactt ctgggtgact taatgaaaat accaagttct gaattgagga
      721 tacaaatttg taagtgtatt gttgattttt atcatgcaga accaccaaag aagcatattc
      781 caggttacca gcaagcgagt tcatcataca agattcaaat ggctgaagtt ggaggattag
      841 caaaaacaat ggtccagtca atgaccttgc ttgaaaatca acttgttgag aaactttggg
      901 tacttaaagt tctgcagcat ctctcaactt ctgaagttaa ttgtactata atgatgaaag
      961 cacaagcagc cagtggaatc tgtactcacc tcaatgaccc agatccctct ggacagcttt
     1021 tatttcgttc atcagaaata ctttggaact tgctggaaaa atcttcaaaa gaagaagtca
     1081 tacaacagct tagtaacttg gaatgtttgc tggctttgaa ggaagtattt aaaaatctgt
     1141 ttatgagagg tttcagtcat tatgaccgtc agcttagaaa tgacatatta gtgatcacta
     1201 caattatagc tcaaaatcct gaagcaccaa tgattgaatg tggctttacc aaggatttga
     1261 tactgtttgc cacctttaat gaagttaaaa gtcaaaatct tttggtaaaa ggacttaagc
     1321 tttctaattc ctatgaagat tttgagttga agaaattact attcaacgta attgtgatct
     1381 tatgtaaaga tttacctact gtacagctat taattgatgg caaagttatt ttggctttgt
     1441 ttacctatgt taagaagcct gagaagcaaa aaataattga ctggtctgca gcacagcatg
     1501 aagaattaca actgcatgca attgccactt tgtcatcagt ggctccttta ttaatagaag
     1561 aatacatgtc atgccaggga aatgctcgag tccttgcatt tctagaatgg tgtgagagtg
     1621 aagatccgtt tttcagtcat ggtaacagtt ttcatggtac aggtggccga ggcaacaagt
     1681 ttgcccagat gcgttacagt ttaagactcc tgagagccgt ggtctacctt gaagatgaga
     1741 ctgtaaacaa agatctttgt gaaaagggaa caattcagca aatgatagga atctttaaaa
     1801 atataataag caagcctaat gaaaaggaag aagccattgt tttggaaatc cagtctgata
     1861 tattacttat cctatctggc ctttgtgaga atcacattca aaggaaggaa attttcggaa
     1921 ctgaaggagt agatatcgtt cttcatgtga tgaaaacaga ccccaggaag ttacagagtg
     1981 gcttaggcta taatgtactt ctttttagta cattggacag catttggtgc tgtattttgg
     2041 gatgttatcc ctcagaggat tattttcttg aaaaggaagg catttttctc cttttggatt
     2101 tgttagcatt gaaccaaaaa aaattctgta atctaatact tggaataatg gttgaatttt
     2161 gtgataatcc caaaactgca gctcatgtca atgcttggca agggaagaag gatcagacag
     2221 ctgctagtct tttaattaaa ttgtggagaa aggaggaaaa agaactagga gtaaaacgtg
     2281 ataaaaatgg gaagatcatt gatacaaaaa aacctctatt tactagcttt caagaagagc
     2341 aaaaaatcat cccactgcct gctaactgcc catctattgc ggttatggat gtttctgaga
     2401 atattagagc aaaaatttat gctatattgg gcaaactaga ttttgaaaat ttacctggcc
     2461 tatctgctga agattttgtc accctttgta tcatacatag atatcttgat tttaaaattg
     2521 gagaaatatg gaatgaaata tatgaagaaa taaaattaga aaaattaaga ccagtcacta
     2581 cagataaaaa agctttggaa gctattacaa cagcatcaga aaatattgga aagatggttg
     2641 cttctctgca aagtgatata attgaaagcc aagcatgcca agacatgcaa aatgaacaaa
     2701 aagtatatgc aaaaatacag gccacgcaca agcaaagaga gctggctaat aaatcatggg
     2761 aagatttctt ggctagaaca tcaaacgcta aaacgttaaa gaaagcaaaa agccttcaag
     2821 aaaaagctat agaagcctcc agataccata aacgaccaca aaatgcaata tttcaccaaa
     2881 cacatattaa aggccttaac acaacggtgc cctctggtgg agtagtaaca gtggaaagca
     2941 ctcctgcccg attagtagga ggacctctgg ttgatacgga tattgctctt aaaaaactgc
     3001 ccattcgagg aggagccttg cagagggtga aagcagttaa aattgtggat gcaccaaaaa
     3061 agagtattcc tacgtaatat actatagaga ctttttgaaa taaagtcagc ttataatttt
     3121 ttagctgaat atatctttat acatatgtaa agccaatatt ttagaataag tattttagta
     3181 taaatatttt agtaaaatac tataaaaata aaaggacata taatttattt ttatggaaaa
     3241 catcaacatg taatatcaga agagttgtca tcagtttctt tggaaaggct accaatttta
     3301 ctaagtgaaa ttgtaaaaca tagtacatca gttaggactc tgttggttgc atgtgaacta
     3361 ttctaactag tttaagtcag aaaaaaaatt tcttacaggc tctataccta tcaaatctag
     3421 gaggaattta gactacaggc attgctgaat ctaaggacta aaactatatg agtaggatct
     3481 tctccttccc tagcagctcc tggcttacat tctcttaggt tcatgcctgt gtctctgtgg
     3541 tttctgcagc tgcctatgca tctcaggacc cctgattgcc cacatgccta cggtagtcct
     3601 gagccattca ccatgacttt ggccatggct gagtactgcc tattcctgga gccagaagca
     3661 gggcaactcc atccaaaaca tatggataga gtggggaatc agggtactat tatcagaagc
     3721 aagtatatat gaatattggg cagcaagata aacaataact ctgcaacaag tatgttggtc
     3781 aaaataaaat tatgttttct ctgctataaa agcaaatgtt agtcatgagc caaatggtaa
     3841 aaaagaaaaa aaaatgcagc tggttttact cttaatatat aaatatacaa agcaaactct
     3901 aa
//
LOCUS       NM_001039707            2391 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens endosome associated trafficking regulator 1 (ENTR1),
            transcript variant 1, mRNA.
ACCESSION   NM_001039707
VERSION     NM_001039707.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2391)
  AUTHORS   Thiebaut R, Esmiol S, Lecine P, Mahfouz B, Hermant A, Nicoletti C,
            Parnis S, Perroy J, Borg JP, Pascoe L, Hugot JP and Ollendorff V.
  TITLE     Characterization and Genetic Analyses of New Genes Coding for NOD2
            Interacting Proteins
  JOURNAL   PLoS One 11 (11), e0165420 (2016)
   PUBMED   27812135
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2391)
  AUTHORS   Yu F, Sharma S, Skowronek A and Erdmann KS.
  TITLE     The serologically defined colon cancer antigen-3 (SDCCAG3) is
            involved in the regulation of ciliogenesis
  JOURNAL   Sci Rep 6, 35399 (2016)
   PUBMED   27767179
  REMARK    GeneRIF: SDCCAG3 has a role in ciliogenesis and in localization of
            cargo to primary cilia Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2391)
  AUTHORS   McGough IJ, Steinberg F, Gallon M, Yatsu A, Ohbayashi N, Heesom KJ,
            Fukuda M and Cullen PJ.
  TITLE     Identification of molecular heterogeneity in SNX27-retromer-mediated
            endosome-to-plasma-membrane recycling
  JOURNAL   J Cell Sci 127 (Pt 22), 4940-4953 (2014)
   PUBMED   25278552
REFERENCE   4  (bases 1 to 2391)
  AUTHORS   Hagemann N, Ackermann N, Christmann J, Brier S, Yu F and Erdmann KS.
  TITLE     The serologically defined colon cancer antigen-3 interacts with the
            protein tyrosine phosphatase PTPN13 and is involved in the
            regulation of cytokinesis
  JOURNAL   Oncogene 32 (39), 4602-4613 (2013)
   PUBMED   23108400
  REMARK    GeneRIF: The novel endosomal protein SDCCAG3 forms a complex with
            PTPN13 & interacts with GIT1. Interaction of SDCCAG3 with PTPN13 is
            mediated by the PTPN13 FERM domain & the SDCCAG3 N-terminus. SDCCAG3
            expression levels are elevated in colon cancers.
REFERENCE   5  (bases 1 to 2391)
  AUTHORS   Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee
            JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K,
            Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z,
            Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN,
            Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A,
            Boucher G, Brand S, Buning C, Cohain A, Cichon S, D'Amato M, De Jong
            D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR,
            Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J,
            Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH,
            Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees
            CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W,
            Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter
            JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms
            LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget
            HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ,
            Zeissig S, Zhang B, Zhang CK, Zhao H, Silverberg MS, Annese V,
            Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt
            EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC and Cho JH.
  CONSRTM   International IBD Genetics Consortium (IIBDGC)
  TITLE     Host-microbe interactions have shaped the genetic architecture of
            inflammatory bowel disease
  JOURNAL   Nature 491 (7422), 119-124 (2012)
   PUBMED   23128233
REFERENCE   6  (bases 1 to 2391)
  AUTHORS   Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M, Taylor KD, Lee
            JC, Goyette P, Imielinski M, Latiano A, Lagace C, Scott R,
            Amininejad L, Bumpstead S, Baidoo L, Baldassano RN, Barclay M,
            Bayless TM, Brand S, Buning C, Colombel JF, Denson LA, De Vos M,
            Dubinsky M, Edwards C, Ellinghaus D, Fehrmann RS, Floyd JA, Florin
            T, Franchimont D, Franke L, Georges M, Glas J, Glazer NL, Guthery
            SL, Haritunians T, Hayward NK, Hugot JP, Jobin G, Laukens D,
            Lawrance I, Lemann M, Levine A, Libioulle C, Louis E, McGovern DP,
            Milla M, Montgomery GW, Morley KI, Mowat C, Ng A, Newman W, Ophoff
            RA, Papi L, Palmieri O, Peyrin-Biroulet L, Panes J, Phillips A,
            Prescott NJ, Proctor DD, Roberts R, Russell R, Rutgeerts P,
            Sanderson J, Sans M, Schumm P, Seibold F, Sharma Y, Simms LA,
            Seielstad M, Steinhart AH, Targan SR, van den Berg LH, Vatn M,
            Verspaget H, Walters T, Wijmenga C, Wilson DC, Westra HJ, Xavier RJ,
            Zhao ZZ, Ponsioen CY, Andersen V, Torkvist L, Gazouli M, Anagnou NP,
            Karlsen TH, Kupcinskas L, Sventoraityte J, Mansfield JC, Kugathasan
            S, Silverberg MS, Halfvarson J, Rotter JI, Mathew CG, Griffiths AM,
            Gearry R, Ahmad T, Brant SR, Chamaillard M, Satsangi J, Cho JH,
            Schreiber S, Daly MJ, Barrett JC, Parkes M, Annese V, Hakonarson H,
            Radford-Smith G, Duerr RH, Vermeire S, Weersma RK and Rioux JD.
  TITLE     Meta-analysis identifies 29 additional ulcerative colitis risk loci,
            increasing the number of confirmed associations to 47
  JOURNAL   Nat Genet 43 (3), 246-252 (2011)
   PUBMED   21297633
  REMARK    Erratum:[Nat Genet. 2011 Sep;43(9):919]
REFERENCE   7  (bases 1 to 2391)
  AUTHORS   Neznanov N, Neznanova L, Angres B and Gudkov AV.
  TITLE     Serologically defined colon cancer antigen 3 is necessary for the
            presentation of TNF receptor 1 on cell surface
  JOURNAL   DNA Cell Biol 24 (12), 777-785 (2005)
   PUBMED   16332174
  REMARK    GeneRIF: SDCCAG3 is important for protein trafficking and
            presentation of TNFR1 on the cell surface.
REFERENCE   8  (bases 1 to 2391)
  AUTHORS   Scanlan MJ, Chen YT, Williamson B, Gure AO, Stockert E, Gordan JD,
            Tureci O, Sahin U, Pfreundschuh M and Old LJ.
  TITLE     Characterization of human colon cancer antigens recognized by
            autologous antibodies
  JOURNAL   Int J Cancer 76 (5), 652-658 (1998)
   PUBMED   9610721
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1004796.1,
            ERR3218371.262873.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000357365.8/ ENSP00000349929.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL592301.14, BM549484.1, BQ723499.1, AL559847.3, AK001296.1,
            AF039688.1, BC014515.1 and AA742964.1.
            On Nov 22, 2018 this sequence version replaced NM_001039707.1.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2391
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..2391
                     /gene="ENTR1"
                     /gene_synonym="NY-CO-3; SDCCAG3; SDDAG3"
                     /note="endosome associated trafficking regulator 1"
                     /db_xref="GeneID:10807"
                     /db_xref="HGNC:HGNC:10667"
                     /db_xref="MIM:618289"
     CDS             218..1525
                     /gene="ENTR1"
                     /gene_synonym="NY-CO-3; SDCCAG3; SDDAG3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     antigen NY-CO-3; serologically defined colon cancer antigen
                     3"
                     /codon_start=1
                     /product="endosome-associated-trafficking regulator 1
                     isoform 1"
                     /protein_id="NP_001034796.1"
                     /db_xref="CCDS:CCDS43904.1"
                     /db_xref="GeneID:10807"
                     /db_xref="HGNC:HGNC:10667"
                     /db_xref="MIM:618289"
                     /translation="MSGYQRRPGATPLSRARSLAIPDAPAFYERRSCLPQLNCERPHGR
                     DLDSPFFGIRPAFMCYVPSPVLASVGDTDFGYGKGKCSKQSPSGAHGTHFGDDRFEDLE
                     EANPFSFREFLKTKNLGLSKEDPASRIYAKEASRHSLGLDHNSPPSQTGGYGLEYQQPF
                     FEDPTGAGDLLDEEEDEDTGWSGAYLPSAIEQTHPERVPAGTSPCSTYLSFFSTPSELA
                     GPESLPSWALSDTDSRVSPASPAGSPSADFAVHGESLGDRHLRTLQISYDALKDENSKL
                     RRKLNEVQSFSEAQTEMVRTLERKLEAKMIKEESDYHDLESVVQQVEQNLELMTKRAVK
                     AENHVVKLKQEISLLQAQVSNFQRENEALRCGQGASLTVVKQNADVALQNLRVVMNSAQ
                     ASIKQLVSGAETLNLVAEILKSIDRISEVKDEEEDS"
     misc_feature    269..271
                     /gene="ENTR1"
                     /gene_synonym="NY-CO-3; SDCCAG3; SDDAG3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96C92.3); phosphorylation site"
     misc_feature    623..772
                     /gene="ENTR1"
                     /gene_synonym="NY-CO-3; SDCCAG3; SDDAG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96C92.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    656..658
                     /gene="ENTR1"
                     /gene_synonym="NY-CO-3; SDCCAG3; SDDAG3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96C92.3); phosphorylation site"
     misc_feature    734..811
                     /gene="ENTR1"
                     /gene_synonym="NY-CO-3; SDCCAG3; SDDAG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96C92.3);
                     Region: Required for interaction with PTPN13.
                     /evidence=ECO:0000269|PubMed:23108400"
     misc_feature    890..970
                     /gene="ENTR1"
                     /gene_synonym="NY-CO-3; SDCCAG3; SDDAG3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96C92.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    944..946
                     /gene="ENTR1"
                     /gene_synonym="NY-CO-3; SDCCAG3; SDDAG3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q96C92.3);
                     phosphorylation site"
     misc_feature    956..958
                     /gene="ENTR1"
                     /gene_synonym="NY-CO-3; SDCCAG3; SDDAG3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96C92.3); phosphorylation site"
     regulatory      2369..2374
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENTR1"
                     /gene_synonym="NY-CO-3; SDCCAG3; SDDAG3"
                     /note="hexamer: AATAAA"
     polyA_site      2391
                     /gene="ENTR1"
                     /gene_synonym="NY-CO-3; SDCCAG3; SDDAG3"
                     /note="major polyA site"
ORIGIN
        1 ctccccctcg ccgacggccc aaggcgttca ggcacgcgct ttcggtgctc ggagcggaag
       61 cagcggcgag aggctcggag gcgcgggggc ggccgagcgg cgggcgacgg gggcgggcga
      121 cgggggcggg cgacgcgggc cgcggcacgg gcggagccgg ggccatggag ccgccgctgc
      181 cgggctaggc aggtcgtgcc ccgccgggcc ggcggcgatg tcgggctacc agcgccgccc
      241 gggcgccacc ccgctgtccc gagcccggag cctcgccatt cccgacgctc cagcgttcta
      301 tgagcgccgg tcttgtctcc cccagctaaa ttgtgagcgc ccccatggca gggacctgga
      361 ctcccccttc ttcggcattc ggccggcctt tatgtgctat gtgcccagcc cggtgctggc
      421 ttccgtggga gacacagatt ttggctatgg aaaggggaaa tgttctaagc agagcccgtc
      481 aggagcccac gggacacatt ttggagatga cagatttgaa gatctggaag aggcaaatcc
      541 attctctttt agagagtttc tgaagaccaa gaacctcggc ctctcgaaag aggatccggc
      601 cagcagaatt tatgcaaagg aagcctcgag gcattccctg ggacttgacc acaactcccc
      661 accctcccaa accggcgggt atggcctgga gtatcagcag ccatttttcg aggatccgac
      721 aggggctggt gacctcctgg atgaggagga ggatgaggac accggatgga gtggggccta
      781 cctgccgtcc gccatcgagc agactcaccc cgagagggtc cctgccggca cgtcgccctg
      841 cagcacatac ctttcctttt tctccacccc gtcggagctg gcagggcctg agtctctgcc
      901 ctcgtgggcg ttgagtgaca ctgattctcg cgtgtctccg gcctctccgg cagggagtcc
      961 tagcgcagac tttgcggttc atggagagtc tctgggagac aggcacctgc ggacgctgca
     1021 gataagttac gacgcactga aagatgaaaa ttctaagctg agaagaaagc tgaatgaggt
     1081 tcagagcttc tctgaagctc aaacagaaat ggtgaggacg cttgagcgga agttagaagc
     1141 aaaaatgatc aaggaggaaa gcgactacca cgacctggag tcggtggttc agcaggtgga
     1201 gcagaacctg gagctgatga ccaaacgggc tgtaaaggca gaaaaccacg tcgtgaaact
     1261 aaaacaggaa atcagtttgc tccaggcgca ggtctccaac ttccagcgag agaatgaagc
     1321 cctgcggtgc ggccagggtg ccagcctgac cgtggtgaag cagaacgccg acgtggccct
     1381 gcagaacctc cgggtggtca tgaacagtgc acaggcttcc atcaagcaac tggtttccgg
     1441 agctgagaca ctgaatcttg ttgccgaaat ccttaaatct atagacagaa tttctgaagt
     1501 taaagacgag gaggaagact cttgaggacc cctgggtgtt ctcagcatga agctccgtgt
     1561 ataccctgag gtcaccaccg ctcgatctaa atgtgcagtt gtgtccttaa atatgcagtc
     1621 ttcacccaga gtaaagtgtt gatcgcaaga gtccagtgtc gtgccctcag ccagttcttg
     1681 gccaccacaa tgggagcagc cctggccgag ttgtctctgt ggtttctatg cagcccttct
     1741 tggcgaaatt cctgcgatct tatagattct aatgagctct tggaagacat tgtcataaaa
     1801 gccagtgatt ttaagaaaaa gagtggttct ggaatcaatg ttttccagtc ccatcccaga
     1861 acatcagttg taagataagt acaattggtt gtccttgatt tcataagtag aacaaacact
     1921 aaatgtgcct ctgagatggc caccccgggc agggacctgt gccttccgcc gatgctcagg
     1981 gctccctctg gctcccgggt cactcttgtg gccccagtgg gtggtccctg cagtcatggc
     2041 ctgagtgcgc aggggccacc gcgtggctgc tgctgtcctc ctccgggacc cacggggacc
     2101 aaggtcacac gttccgtgct gtgaagctgt ccagatgtgc ctctttggct gggggttctg
     2161 gtggacgttt caagtggcat tttgtacaat gcaggttaga attcaggaat ttcaagtatg
     2221 tgcccgggtc tgtcaggtcc cagttgcctt tctgacggcc cccctcagag ggacggcgat
     2281 gagcactaaa tgcttttttg actattttcc tatagatttt ttttaaaact tttttttcct
     2341 cctgttccaa ttgatagctt tcttatttaa taaattctgt agttcaccgc a
//
LOCUS       NM_001039724            2075 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens nitric oxide synthase trafficking (NOSTRIN), transcript
            variant 2, mRNA.
ACCESSION   NM_001039724
VERSION     NM_001039724.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2075)
  AUTHORS   Paul M, Gope TK, Das P and Ain R.
  TITLE     Nitric-Oxide Synthase trafficking inducer (NOSTRIN) is an emerging
            negative regulator of colon cancer progression
  JOURNAL   BMC Cancer 22 (1), 594 (2022)
   PUBMED   35642021
  REMARK    GeneRIF: Nitric-Oxide Synthase trafficking inducer (NOSTRIN) is an
            emerging negative regulator of colon cancer progression. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 2075)
  AUTHORS   Poupon D, Hummel T, Haehner A, Welge-Luessen A and Frasnelli J.
  TITLE     Nostril Differences in the Olfactory Performance in Health and
            Disease
  JOURNAL   Chem Senses 42 (8), 625-634 (2017)
   PUBMED   28981819
  REMARK    GeneRIF: The suggest that scores obtained with the worst nostril are
            the most efficient in detecting an olfactory disorder.
REFERENCE   3  (bases 1 to 2075)
  AUTHORS   Wang J, Yang S, He P, Schetter AJ, Gaedcke J, Ghadimi BM, Ried T,
            Yfantis HG, Lee DH, Gaida MM, Hanna N, Alexander HR and Hussain SP.
  TITLE     Endothelial Nitric Oxide Synthase Traffic Inducer (NOSTRIN) is a
            Negative Regulator of Disease Aggressiveness in Pancreatic Cancer
  JOURNAL   Clin Cancer Res 22 (24), 5992-6001 (2016)
   PUBMED   27401251
  REMARK    GeneRIF: NOSTRIN inhibited production of nitric oxide (NO) by
            suppressing the activation of endothelial nitric oxide synthase
            (eNOS).
REFERENCE   4  (bases 1 to 2075)
  AUTHORS   Laskowska M, Laskowska K and Oleszczuk J.
  TITLE     The relation of maternal serum eNOS, NOSTRIN and ADMA levels with
            aetiopathogenesis of preeclampsia and/or intrauterine fetal growth
            restriction
  JOURNAL   J Matern Fetal Neonatal Med 28 (1), 26-32 (2015)
   PUBMED   24588201
  REMARK    GeneRIF: no significant difference in serum level associated with
            preeclampsia or intrauterine growth restriction
REFERENCE   5  (bases 1 to 2075)
  AUTHORS   Lopez S, Buil A, Souto JC, Casademont J, Martinez-Perez A, Almasy L
            and Soria JM.
  TITLE     A genome-wide association study in the genetic analysis of
            idiopathic thrombophilia project suggests sex-specific regulation of
            mitochondrial DNA levels
  JOURNAL   Mitochondrion 18, 34-40 (2014)
   PUBMED   25240745
REFERENCE   6  (bases 1 to 2075)
  AUTHORS   Schilling K, Opitz N, Wiesenthal A, Oess S, Tikkanen R,
            Muller-Esterl W and Icking A.
  TITLE     Translocation of endothelial nitric-oxide synthase involves a
            ternary complex with caveolin-1 and NOSTRIN
  JOURNAL   Mol Biol Cell 17 (9), 3870-3880 (2006)
   PUBMED   16807357
  REMARK    GeneRIF: A ternary complex between NOSTRIN, caveolin-1, and eNOS
            mediates translocation of eNOS, with important implications for the
            activity and availability of eNOS in the cell.
REFERENCE   7  (bases 1 to 2075)
  AUTHORS   Oess S, Icking A, Fulton D, Govers R and Muller-Esterl W.
  TITLE     Subcellular targeting and trafficking of nitric oxide synthases
  JOURNAL   Biochem J 396 (3), 401-409 (2006)
   PUBMED   16722822
  REMARK    Review article
REFERENCE   8  (bases 1 to 2075)
  AUTHORS   Icking A, Matt S, Opitz N, Wiesenthal A, Muller-Esterl W and
            Schilling K.
  TITLE     NOSTRIN functions as a homotrimeric adaptor protein facilitating
            internalization of eNOS
  JOURNAL   J Cell Sci 118 (Pt 21), 5059-5069 (2005)
   PUBMED   16234328
  REMARK    GeneRIF: NOSTRIN may facilitate endocytosis of endothelial nitric
            oxide synthase by coordinating the function of dynamin and the actin
            nucleation promoting factor N-WASP.
REFERENCE   9  (bases 1 to 2075)
  AUTHORS   Choi YJ, Cho SY, Kim HW, Kim JA, Bae SH and Park SS.
  TITLE     Cloning and characterization of mouse disabled 2 interacting protein
            2, a mouse orthologue of human NOSTRIN
  JOURNAL   Biochem Biophys Res Commun 326 (3), 594-599 (2005)
   PUBMED   15596140
REFERENCE   10  (bases 1 to 2075)
  AUTHORS   Zimmermann K, Opitz N, Dedio J, Renne C, Muller-Esterl W and Oess S.
  TITLE     NOSTRIN: a protein modulating nitric oxide release and subcellular
            distribution of endothelial nitric oxide synthase
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 17167-17172 (2002)
   PUBMED   12446846
  REMARK    GeneRIF: NOSTRIN modulates nitric oxide release and subcellular
            distribution of endothelial nitric oxide synthase.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK002203.2, BC093072.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000317647.12/ ENSP00000318921.7
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP334580.1, BC093072.1, BF114987.1, BQ899074.1 and AC069137.6.
            On Feb 27, 2020 this sequence version replaced NM_001039724.3.
            Summary: Nitric oxide (NO) is a potent mediator in biologic
            processes such as neurotransmission, inflammatory response, and
            vascular homeostasis. NOSTRIN binds the enzyme responsible for NO
            production, endothelial NO synthase (ENOS; MIM 163729), and
            triggers the translocation of ENOS from the plasma membrane to
            vesicle-like subcellular structures, thereby attenuating
            ENOS-dependent NO production.[supplied by OMIM, Apr 2004].
            Transcript Variant: This variant is a dominant transcript and
            encodes a 506aa protein (isoform 2).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..2075
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.3"
     gene            1..2075
                     /gene="NOSTRIN"
                     /gene_synonym="DaIP2"
                     /note="nitric oxide synthase trafficking"
                     /db_xref="GeneID:115677"
                     /db_xref="HGNC:HGNC:20203"
                     /db_xref="MIM:607496"
     CDS             11..1531
                     /gene="NOSTRIN"
                     /gene_synonym="DaIP2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     ortholog of mouse disabled 2 interacting proein 2;
                     endothelial nitric oxide synthase traffic inducer; ENOS
                     traffic inducer; BM247 homolog; eNOS-trafficking inducer;
                     nitric oxide synthase trafficker"
                     /codon_start=1
                     /product="nostrin isoform 2"
                     /protein_id="NP_001034813.2"
                     /db_xref="CCDS:CCDS42771.1"
                     /db_xref="GeneID:115677"
                     /db_xref="HGNC:HGNC:20203"
                     /db_xref="MIM:607496"
                     /translation="MRDPLTDCPYNKVYKNLKEFSQNGENFCKQVTSVLQQRANLEISY
                     AKGLQKLASKLSKALQNTRKSCVSSAWAWASEGMKSTADLHQKLGKAIELEAIKPTYQV
                     LNVQEKKRKSLDNEVEKTANLVISNWNQQIKAKKKLMVSTKKHEALFQLVESSKQSMTE
                     KEKRKLLNKLTKSTEKLEKEDENYYQKNMAGYSTRLKWENTLENCYQSILELEKERIQL
                     LCNNLNQYSQHISLFGQTLTTCHTQIHCAISKIDIEKDIQAVMEETAILSTENKSEFLL
                     TDYFEEDPNSAMDKERRKSLLKPKLLRLQRDIEKASKDKEGLERMLKTYSSTSSFSDAK
                     SQKDTAALMDENNLKLDLLEANSYKLSSMLAELEQRPQPSHPCSNSIFRWREKEHTHSY
                     VKISRPFLMKRLENIVSKASSGGQSNPGSSTPAPGAAQLSSRLCKALYSFQARQDDELN
                     LEKGDIVIIHEKKEGGWWFGSLNGKKGHFPAAYVEELPSNAGNTATKA"
     misc_feature    350..352
                     /gene="NOSTRIN"
                     /gene_synonym="DaIP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5I0D6; propagated from
                     UniProtKB/Swiss-Prot (Q8IVI9.2); phosphorylation site"
     misc_feature    1445..1447
                     /gene="NOSTRIN"
                     /gene_synonym="DaIP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6WKZ7; propagated from
                     UniProtKB/Swiss-Prot (Q8IVI9.2); phosphorylation site"
     regulatory      1596..1601
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NOSTRIN"
                     /gene_synonym="DaIP2"
                     /note="hexamer: AATAAA"
     polyA_site      1616
                     /gene="NOSTRIN"
                     /gene_synonym="DaIP2"
                     /note="major polyA site"
ORIGIN
        1 acatttcaac atgagggacc cactgacaga ttgtccgtat aataaagtat acaagaacct
       61 aaaggagttt tctcaaaatg gagagaattt ctgcaaacag gtcacatctg ttcttcagca
      121 aagggcaaac ctggaaatta gctatgccaa aggacttcag aaactggcaa gcaagctgag
      181 caaagcatta cagaacacga gaaaaagttg tgttagcagt gcctgggcct gggcctcaga
      241 gggaatgaaa tccacagcgg acctgcatca aaaacttggc aaagcaattg aattggaagc
      301 aataaaaccg acttatcaag tcctaaatgt acaagagaag aagagaaaat cacttgacaa
      361 tgaagttgaa aagacagcaa atcttgtcat tagcaactgg aatcagcaaa ttaaggccaa
      421 gaagaaatta atggttagta ccaagaaaca tgaagcactt ttccagcttg tagaaagctc
      481 caagcaatct atgactgaga aggagaagcg gaagctcctc aataaactga caaaatcaac
      541 tgaaaagttg gaaaaggaag atgaaaatta ctaccaaaaa aacatggcgg gttattctac
      601 cagactgaaa tgggaaaaca cactagagaa ctgctaccag agcattctgg agctggagaa
      661 ggaaagaatt caacttttat gcaataactt aaaccagtac agccaacata tttctctttt
      721 tggccaaacc ctgaccacat gccacacgca gattcactgt gccatcagca agattgacat
      781 tgaaaaagat atccaggctg taatggaaga aactgcaatt ttatctacag aaaacaaatc
      841 tgagttcctg ttaacggatt actttgaaga agatcctaac agtgcaatgg ataaagagag
      901 acgaaagtct ttactaaaac caaaattatt gagactgcag agagacattg aaaaagcctc
      961 aaaagacaag gaaggcctgg aacgaatgct taaaacgtac tccagcacct cctccttctc
     1021 tgatgcaaag agccagaaag acacagcagc gttaatggat gagaacaatt tgaaactaga
     1081 ccttttggaa gcgaactcct acaaactgtc atcaatgtta gcagaacttg agcaaagacc
     1141 tcaacccagc catccttgta gtaattccat cttcaggtgg agggaaaagg agcatactca
     1201 tagctatgtg aaaatatctc ggcctttttt aatgaagaga ttagagaata ttgtgagcaa
     1261 ggcatcttct ggtgggcaga gcaatccagg ttcttcaact ccagcccctg gtgcagccca
     1321 gctcagcagc agactttgca aggccttgta ttcttttcaa gccaggcaag atgatgagtt
     1381 gaatttggaa aagggtgaca ttgtgattat acacgagaaa aaagaaggag gatggtggtt
     1441 tggatctttg aatgggaaaa aaggccattt tcctgccgct tatgtggagg agttaccttc
     1501 aaatgctggc aacacagcta caaaggcata aaacaagact ctgaacatac taccttcaca
     1561 ctcggtaatc aacaatacag tgtggttcaa ataagaataa agtgctctta cctttacatg
     1621 tttttctttt gaaatggatg gagttctacc tgcatgtcac agcactttgc attcatgatt
     1681 attagcttga aacagtcaga aaaaagatgg atgggtggag acagacaagg aagaggctcc
     1741 ttggttccta gaggagtttc caaattctag gagaccctag agatgatcca gtataacccc
     1801 tggtgtcaca gaaacagacg gagtccaagg tgggttcagc tgcttgcctg aagtcagagt
     1861 tatctggtag acaacagcag tgggacttag atgtcttttt cctctggatt tgggtggcaa
     1921 cagaacacag caggcctatg agggggtcaa gcagagcctg ggagatgagg aacacagatc
     1981 aattccaaga agagagacag gcaatcaaga caccaatgag atcaacccaa attaggggat
     2041 ggtaggatat ctctgacaaa cccacagcca atatc
//
LOCUS       NM_001039752            2638 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens solute carrier family 22 member 10 (SLC22A10),
            transcript variant 1, mRNA.
ACCESSION   NM_001039752
VERSION     NM_001039752.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2638)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   2  (bases 1 to 2638)
  AUTHORS   Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd
            C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E,
            Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K,
            Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC,
            Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES and
            Sakaki Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
REFERENCE   3  (bases 1 to 2638)
  AUTHORS   Eraly SA and Nigam SK.
  TITLE     Novel human cDNAs homologous to Drosophila Orct and mammalian
            carnitine transporters
  JOURNAL   Biochem Biophys Res Commun 297 (5), 1159-1166 (2002)
   PUBMED   12372408
REFERENCE   4  (bases 1 to 2638)
  AUTHORS   Sun W, Wu RR, van Poelje PD and Erion MD.
  TITLE     Isolation of a family of organic anion transporters from human liver
            and kidney
  JOURNAL   Biochem Biophys Res Commun 283 (2), 417-422 (2001)
   PUBMED   11327718
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2145122,
            SAMEA2155590 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332793.11/ ENSP00000327569.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001880.4, BX091233.1, DR003989.1, BK001421.1, AB075876.1 and
            CB162810.1.
            On May 17, 2019 this sequence version replaced NM_001039752.3.
            Transcript Variant: This variant (1) represents the longer,
            protein-coding transcript.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by published protein sequence data and transcript
            alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2638
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     gene            1..2638
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="solute carrier family 22 member 10"
                     /db_xref="GeneID:387775"
                     /db_xref="HGNC:HGNC:18057"
                     /db_xref="MIM:607580"
     misc_feature    183..185
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="upstream in-frame stop codon"
     CDS             264..1889
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="organic anion transporter 5; solute carrier family
                     22 (organic anion/cation transporter), member 10"
                     /codon_start=1
                     /product="solute carrier family 22 member 10"
                     /protein_id="NP_001034841.3"
                     /db_xref="CCDS:CCDS41661.1"
                     /db_xref="GeneID:387775"
                     /db_xref="HGNC:HGNC:18057"
                     /db_xref="MIM:607580"
                     /translation="MAFEELLSQVGGLGRFQMLHLVFILPSLMLLIPHILLENFAAAIP
                     GHRCWVHMLDNNTGSGNETGILSEDALLRISIPLDSNLRPEKCRRFVHPQWQLLHLNGT
                     IHSTSEADTEPCVDGWVYDQSYFPSTIVTKWDLVCDYQSLKSVVQFLLLTGMLVGGIIG
                     GHVSDRFGRRFILRWCLLQLAITDTCAAFAPTFPVYCVLRFLAGFSSMIIISNNSLPIT
                     EWIRPNSKALVVILSSGALSIGQIILGGLAYVFRDWQTLHVVASVPFFVFFLLSRWLVE
                     SARWLIITNKLDEGLKALRKVARTNGIKNAEETLNIEVVRSTMQEELDAAQTKTTVCDL
                     FRNPSMRKRICILVFLRFANTIPFYGTMVNLQHVGSNIFLLQVLYGAVALIVRCLALLT
                     LNHMGRRISQILFMFLVGLSILANTFVPKEMQTLRVALACLGIGCSAATFSSVAVHFIE
                     LIPTVLRARASGIDLTASRIGAALAPLLMTLTVFFTTLPWIIYGIFPIIGGLIVFLLPE
                     TKNLPLPDTIKDVENQKKNLKEKA"
     misc_feature    309..371
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZE4.2);
                     transmembrane region"
     misc_feature    429..431
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q63ZE4.2); glycosylation site"
     misc_feature    567..569
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q63ZE4.2); glycosylation site"
     misc_feature    699..761
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZE4.2);
                     transmembrane region"
     misc_feature    843..905
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZE4.2);
                     transmembrane region"
     misc_feature    954..1016
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZE4.2);
                     transmembrane region"
     misc_feature    1041..1103
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZE4.2);
                     transmembrane region"
     misc_feature    1311..1373
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZE4.2);
                     transmembrane region"
     misc_feature    1395..1457
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZE4.2);
                     transmembrane region"
     misc_feature    1482..1544
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZE4.2);
                     transmembrane region"
     misc_feature    1572..1634
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZE4.2);
                     transmembrane region"
     misc_feature    1680..1742
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZE4.2);
                     transmembrane region"
     misc_feature    1749..1811
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q63ZE4.2);
                     transmembrane region"
     regulatory      2602..2607
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="hexamer: AATAAA"
     regulatory      2618..2623
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="hexamer: ATTAAA"
     polyA_site      2626
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
     polyA_site      2638
                     /gene="SLC22A10"
                     /gene_synonym="hOAT5; OAT5"
                     /note="major polyA site"
ORIGIN
        1 attgtcaaca gctagaagta tctctatgaa ataatgatct ctatgactac aaaataacat
       61 ctacctcctg atagcaaaag aactgaggaa gctctttcca ctacggctgt attgcactgg
      121 tgagtccggg cccatggatg agaaattgat gcgaggatca atacaagctt aatttgaatt
      181 aataaaagga aatattttct ccctttgaac ttatctccgt aaagccattg tgcctcctct
      241 tgggggtcac gtgttcacaa tcaatggcct ttgaggagct cttgagtcaa gttggaggcc
      301 ttgggagatt tcagatgctt catctggttt ttattcttcc ctctctcatg ttattaatcc
      361 ctcatatact gctagagaac tttgctgcag ccattcctgg tcatcgttgc tgggtccaca
      421 tgctggacaa taatactgga tctggtaatg aaactggaat cctcagtgaa gatgccctct
      481 tgagaatctc tatcccacta gactcaaatc tgaggccaga gaagtgtcgt cgctttgtcc
      541 atccccagtg gcagcttctt cacctgaatg ggactatcca cagcacaagt gaggcagaca
      601 cagaaccctg tgtggatggc tgggtatatg atcaaagcta cttcccttcg accattgtga
      661 ctaagtggga cctggtatgt gattatcagt cactgaaatc agtggttcaa ttcctacttc
      721 tgactggaat gctggtggga ggcatcatag gtggccatgt ctcagacagg tttgggcgaa
      781 gatttattct cagatggtgt ttgctccagc ttgccattac tgacacctgc gctgccttcg
      841 ctcccacctt ccctgtttac tgtgtactac gcttcttggc aggtttttct tccatgatca
      901 ttatatcaaa taattctttg cccattactg agtggataag gcccaactct aaagccctgg
      961 tagtaatatt gtcatctggt gcccttagta ttggacagat aatcctggga ggcttggctt
     1021 atgtcttccg agactggcaa accctgcacg tggtggcgtc tgtacctttc tttgtcttct
     1081 ttcttctttc aaggtggctg gtggaatctg ctcggtggtt gataatcacc aataaactag
     1141 atgagggctt aaaggcactt agaaaagttg cacgcacaaa tggaataaag aatgctgaag
     1201 aaaccctgaa catagaggtt gtaagatcca ccatgcagga ggagctggat gcagcacaga
     1261 ccaaaactac tgtgtgtgac ttgttccgca accccagtat gcgtaaaagg atctgtatcc
     1321 tggtattttt gagatttgca aacacaatac ctttttatgg taccatggtc aatcttcagc
     1381 atgtggggag caacattttc ctgttgcagg tactttatgg agctgtcgct ctcatagttc
     1441 gatgtcttgc tcttttgaca ctaaatcata tgggccgtcg aataagccag atattgttca
     1501 tgttcctggt gggcctttcc attttggcca acacgtttgt gcccaaagaa atgcagaccc
     1561 tgcgtgtggc tttggcatgt ctgggaatcg gctgttctgc tgctactttt tccagtgttg
     1621 ctgttcactt cattgaactc atccccactg ttctcagggc aagagcttca ggaatagatt
     1681 taacggctag taggattgga gcagcactgg ctcccctctt gatgacctta acggtatttt
     1741 ttaccacttt gccatggatc atttatggaa tcttccccat cattggtggc cttattgtct
     1801 tcctcctacc agaaaccaag aatctgcctt tgcctgacac catcaaggat gtggaaaatc
     1861 aaaaaaaaaa tctcaaggaa aaggcataaa aatgattgct acacaaaagt gaccaaattt
     1921 taagaagcct tcatgagctg attggtgggg aaattcagaa aaaaaaatac aggaaaagaa
     1981 cacaccagaa gggttttttt ccctacaacc agcaagaaca tatattagat acatgaatct
     2041 caattataat tatggcatta atttgcattt tatttcaaaa ttaacttgtg gggacatgta
     2101 atctcttgag caatctgata tttttgggaa gtcctttaaa aagttacaaa tttatcaata
     2161 aattactagt agataagatg attcagaaac aaaagaaaat cacagaatta ggatgtggct
     2221 ggctggtgta tgaagcacca tgtgatgaat tcataaagtt gcaaaagtca aaacaatact
     2281 gtacatgcaa ccagaaatca aaataaatcc agaaatagag acctatataa atgcatttaa
     2341 tacatgatac ttttgacata ataagccatt ggaaaacgga aagattagat actaaataac
     2401 attgactatc tctttgtaaa tacagtcact aaatgatgtt agttactttt ccatggtgga
     2461 attttaatta ctttttcttt gtaatttttc tctctgtata ttttaaacaa atagctggta
     2521 tagtttacaa tattataaag atattgttca aattgaaggg caaaggccag gttcagcaat
     2581 tttcaaactg tatgtacatt taataaaata actataaatt aaaaaattat atttcaaa
//
LOCUS       NM_001039753            8436 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens EMAP like 6 (EML6), mRNA.
ACCESSION   NM_001039753
VERSION     NM_001039753.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8436)
  AUTHORS   Li Q, Wojciechowski R, Simpson CL, Hysi PG, Verhoeven VJ, Ikram MK,
            Hohn R, Vitart V, Hewitt AW, Oexle K, Makela KM, MacGregor S,
            Pirastu M, Fan Q, Cheng CY, St Pourcain B, McMahon G, Kemp JP,
            Northstone K, Rahi JS, Cumberland PM, Martin NG, Sanfilippo PG, Lu
            Y, Wang YX, Hayward C, Polasek O, Campbell H, Bencic G, Wright AF,
            Wedenoja J, Zeller T, Schillert A, Mirshahi A, Lackner K, Yip SP,
            Yap MK, Ried JS, Gieger C, Murgia F, Wilson JF, Fleck B, Yazar S,
            Vingerling JR, Hofman A, Uitterlinden A, Rivadeneira F, Amin N,
            Karssen L, Oostra BA, Zhou X, Teo YY, Tai ES, Vithana E, Barathi V,
            Zheng Y, Siantar RG, Neelam K, Shin Y, Lam J, Yonova-Doing E,
            Venturini C, Hosseini SM, Wong HS, Lehtimaki T, Kahonen M, Raitakari
            O, Timpson NJ, Evans DM, Khor CC, Aung T, Young TL, Mitchell P,
            Klein B, van Duijn CM, Meitinger T, Jonas JB, Baird PN, Mackey DA,
            Wong TY, Saw SM, Parssinen O, Stambolian D, Hammond CJ, Klaver CC,
            Williams C, Paterson AD, Bailey-Wilson JE and Guggenheim JA.
  CONSRTM   CREAM Consortium
  TITLE     Genome-wide association study for refractive astigmatism reveals
            genetic co-determination with spherical equivalent refractive error:
            the CREAM consortium
  JOURNAL   Hum Genet 134 (2), 131-146 (2015)
   PUBMED   25367360
REFERENCE   2  (bases 1 to 8436)
  AUTHORS   Benjamin DJ, Cesarini D, van der Loos MJ, Dawes CT, Koellinger PD,
            Magnusson PK, Chabris CF, Conley D, Laibson D, Johannesson M and
            Visscher PM.
  TITLE     The genetic architecture of economic and political preferences
  JOURNAL   Proc Natl Acad Sci U S A 109 (21), 8026-8031 (2012)
   PUBMED   22566634
REFERENCE   3  (bases 1 to 8436)
  AUTHORS   Cotsapas C, Speliotes EK, Hatoum IJ, Greenawalt DM, Dobrin R, Lum
            PY, Suver C, Chudin E, Kemp D, Reitman M, Voight BF, Neale BM,
            Schadt EE, Hirschhorn JN, Kaplan LM and Daly MJ.
  CONSRTM   GIANT Consortium
  TITLE     Common body mass index-associated variants confer risk of extreme
            obesity
  JOURNAL   Hum Mol Genet 18 (18), 3502-3507 (2009)
   PUBMED   19553259
  REMARK    Erratum:[Hum Mol Genet. 2010 Sep 15;19(18):3690-1]
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145240 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000356458.8/ ENSP00000348842.6
            RefSeq Select criteria    :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093110.4, AC104781.4, AC013414.7 and KF510815.1.
            On Apr 8, 2021 this sequence version replaced NM_001039753.3.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..8436
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.1"
     gene            1..8436
                     /gene="EML6"
                     /note="EMAP like 6"
                     /db_xref="GeneID:400954"
                     /db_xref="HGNC:HGNC:35412"
     misc_feature    285..287
                     /gene="EML6"
                     /note="upstream in-frame stop codon"
     CDS             630..6506
                     /gene="EML6"
                     /note="EMAP-6; echinoderm microtubule associated protein
                     like 6"
                     /codon_start=1
                     /product="echinoderm microtubule-associated protein-like 6"
                     /protein_id="NP_001034842.2"
                     /db_xref="CCDS:CCDS46286.1"
                     /db_xref="GeneID:400954"
                     /db_xref="HGNC:HGNC:35412"
                     /translation="MADRTAPRCQLRLEWVYGYRGHQCRNNLYYTAGKEVVYFVAGVGV
                     VYNTREHSQKFFLGHNDDIISLALHPDKTLVATGQVGKEPYICIWDSYNVQTVSLLKDV
                     HTHGVACLAFDSDGQRLASVGLDAKNTVCIWDWRKGKLLASATGHSDRIFDISWDPYQP
                     NRVVSCGVKHIKFWTLCGNALTAKRGIFGKTGDLQTILCLACAKEDITYSGALNGDIYV
                     WKGLNLVRTIQGAHSAGIFSMYACEEGFATGGRDGCIRLWDTDFKPITKIDLRETEQGY
                     KGLSIRSVCWKADRLLAGTQDSEIFEVIVRERDKPMLILQGHCEGELWALALHPKKPLA
                     VTGSDDRSVRLWSLADHALIARCNMEEAVRSVAFSPDGSQLALGMKDGSFIVLRVRDMT
                     EVVHIKDRKEVIHEMKFSPDGSYLAVGSNDGPVDVYAVAQRYKKIGECSKSLSFITHID
                     WSLDSKYLQTNDGAGERLFYRMPSGKPLTSKEEIKGIPWASWTCVKGPEVSGIWPKYTE
                     VTDINSVDANYNSSVLVSGDDFGLVKLFKFPCLKRGAKFRKYVGHSAHVTNVRWSHDFQ
                     WVLSTGGADHSVFQWRFIPEGVSNGMLETAPQEGGADSYSEESDSDLSDVPELDSDIEQ
                     EAQINYDRQVYKEDLPQLKQQSKEKNHAVPFLKREKAPEDSLKLQFIHGYRGYDCRNNL
                     FYTQAGEVVYHIAAVAVVYNRQQHSQRLYLGHDDDILSLTIHPVKDYVATGQVGRDAAI
                     HVWDTQTLKCLSLLKGQHQRGVCALDFSADGKCLVSVGLDDFHSIVFWDWKKGEKIATT
                     RGHKDKIFVVKCNPHHVDKLVTVGIKHIKFWQQAGGGFTSKRGTFGSVGKLETMMCVSY
                     GRMEDLVFSGAATGDIFIWKDILLLKTVKAHDGPVFAMYALDKGFVTGGKDGIVELWDD
                     MFERCLKTYAIKRSALSTSSKGLLLEDNPSIRAITLGHGHILVGTKNGEILEIDKSGPM
                     TLLVQGHMEGEVWGLAAHPLLPICATVSDDKTLRIWELSAQHRMLAVRKLKKGGRCCAF
                     SPDGKALAVGLNDGSFLVVNADTVEDMVSFHHRKEMISDIKFSKDTGKYLAVASHDNFV
                     DIYNVLTSKRVGICKGASSYITHIDWDSRGKLLQVNSGAREQLFFEAPRGKRHIIRPSE
                     IEKIEWDTWTCVLGPTCEGIWPAHSDITDVNAASLTKDCSLLATGDDFGFVKLFSYPVK
                     GQHARFKKYVGHSAHVTNVRWLHNDSVLLTVGGADTALMIWTREFVGTQESKLVDSEES
                     DTDVEEDGGYDSDVAREKAIDYTTKIYAVSIREMEGTKPHQQLKEVSVEERPPVSRAAP
                     QPEKLQKNNITKKKKLVEELALDHVFGYRGFDCRNNLHYLNDGADIIFHTAAAGIVQNL
                     STGSQSFYLEHTDDILCLTVNQHPKYRNVVATSQIGTTPSIHIWDAMTKHTLSMLRCFH
                     SKGVNYINFSATGKLLVSVGVDPEHTITVWRWQEGAKVASRGGHLERIFVVEFRPDSDT
                     QFVSVGVKHMKFWTLAGSALLYKKGVIGSLGAAKMQTMLSVAFGANNLTFTGAINGDVY
                     VWKDHFLIRLVAKAHTGPVFTMYTTLRDGLIVTGGKERPTKEGGAVKLWDQEMKRCRAF
                     QLETGQLVECVRSVCRGKGKILVGTKDGEIIEVGEKNAASNILIDGHMEGEIWGLATHP
                     SKDLFISASNDGTARIWDLADKKLLNKVSLGHAARCAAYSPDGEMVAIGMKNGEFVILL
                     VNSLKVWGKKRDRKSAIQDIRISPDNRFLAVGSSEHTVDFYDLTQGTNLNRIGYCKDIP
                     SFVIQMDFSADGKYIQVSTGAYKRQVHEVPLGKQVTEAVVIEKITWASWTSVLGDEVIG
                     IWPRNADKADVNCACVTHAGLNIVTGDDFGLVKLFDFPCTEKFAKHKRYFGHSAHVTNI
                     RFSYDDKYVVSTGGDDCSVFVWRCL"
     misc_feature    804..929
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 1"
     misc_feature    939..1064
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 2"
     misc_feature    1071..1190
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 3"
     misc_feature    1212..1328
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 4"
     misc_feature    1332..1448
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 5"
     misc_feature    1467..1592
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 6"
     misc_feature    1596..1715
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 7"
     misc_feature    1719..1838
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 8"
     misc_feature    1845..1964
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 9"
     misc_feature    2310..2432
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 10"
     misc_feature    2436..2507
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2802..2927
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 11"
     misc_feature    2937..3062
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 12"
     misc_feature    3069..3188
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 13"
     misc_feature    3210..3329
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 14"
     misc_feature    3330..3449
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 15"
     misc_feature    3615..3734
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 16"
     misc_feature    3741..3860
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 17"
     misc_feature    3867..3989
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 18"
     misc_feature    4200..4319
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 19"
     misc_feature    4335..4457
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 20"
     misc_feature    4593..4688
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4863..4997
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 21"
     misc_feature    5007..5132
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 22"
     misc_feature    5139..5258
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 23"
     misc_feature    5286..5402
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 24"
     misc_feature    5406..5543
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 25"
     misc_feature    5682..5801
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 26"
     misc_feature    5805..5930
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 27"
     misc_feature    5931..6050
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 28"
     misc_feature    6267..6386
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 29"
     misc_feature    6402..6503
                     /gene="EML6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMW3.2);
                     Region: WD 30"
     regulatory      8412..8417
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EML6"
                     /note="hexamer: AATAAA"
     polyA_site      8436
                     /gene="EML6"
                     /note="major polyA site"
ORIGIN
        1 agtgacgaag tccatccccg ggtgcgggag gcggggaggg gagggcaggc agaggatttc
       61 gctcgctcgc ccgcgcggga tccgggacgc gccggtggcg tccgctggca gcagagactg
      121 tcaatttcgg atccaaagac ggcgatggca gagctcaccc gggttgcctg tcaaatcaag
      181 gctatcgcag aataaatccc gccgcctgcc gcgaagcccc ggcgcaccgc aaacttcagt
      241 gagcgaactg ggtgatcgct gttgggatat gcagattcct gatgtaaaag gcggggtggc
      301 ccccccgaga gcctctcccg ggggccggag cccgcaggtg cagtgaggcg cgcgcgccgg
      361 tgccggcgcc cccagagccg ccttgcccgg gtagagggag cccggcgccc ggcggggtct
      421 ggcggccgca caccggcggc ggcggcttgt ctgcggcggc tgcagcggat gatggtggcg
      481 gccggcccgc tgggctgtgc ctgtgtgtcg ccgcggaaat cagcgccctg cgccgcgcgc
      541 tgagcccctg caggtccgcc gcagccccag cctcggcgag gacggccccg gcgcgcgggg
      601 gggcgggggg cgcgcggggt cggcttatca tggcggatcg gacggcgccc cgctgccagc
      661 tccggctgga gtgggtgtac gggtaccggg gtcaccagtg ccgcaacaac ctgtactaca
      721 cggcaggcaa ggaggtggtc tactttgtgg ctggggtcgg ggtggtttac aacacccgcg
      781 agcacagcca aaaattcttc ctgggacaca acgacgacat tatcagcctt gccttacacc
      841 cagacaaaac tctcgttgca actggccaag tcgggaagga gccatatata tgcatatggg
      901 attcctataa tgtccagact gtgtctcttc ttaaagatgt ccatacacat ggagttgcct
      961 gcctggcttt tgactcagat ggacagcgtt tagcctctgt ggggttggat gccaaaaaca
     1021 cagtctgcat ttgggactgg aggaagggaa aacttctggc gtcagccacc ggccattctg
     1081 acaggatttt tgatatttcc tgggatccat atcagccaaa cagagtggtt agctgtggag
     1141 taaaacacat aaagttttgg acactgtgtg gaaatgccct gactgcaaaa agagggatat
     1201 ttggcaaaac aggggatctt cagaccatcc tttgccttgc atgtgccaaa gaagacatca
     1261 cctactctgg tgctttaaat ggtgacatct atgtctggaa agggctcaat ttagtccgca
     1321 ccattcaagg agcacatagt gctggaatct ttagcatgta tgcttgtgaa gaaggctttg
     1381 ccactggtgg gcgagatggg tgtatacgac tgtgggacac tgatttcaaa ccaataacca
     1441 aaattgatct cagggagaca gaacaaggat acaaaggcct ctctatccgg agcgtgtgct
     1501 ggaaagcaga ccgccttcta gcagggaccc aggacagtga gatatttgaa gtgattgtgc
     1561 gagagcgaga caagccgatg ttgatcctac agggccactg cgagggtgag ctctgggctc
     1621 tggccctgca ccccaagaag cctctggctg tgacaggcag cgatgaccgc tctgtcaggc
     1681 tgtggagcct ggctgatcat gccttgatcg cccgctgtaa catggaagag gcggttcgca
     1741 gtgtagcttt cagccccgac ggatctcagc tggccctggg catgaaggac ggctctttca
     1801 ttgttctccg agtcagagat atgacagaag tagttcacat caaagatcga aaagaagtca
     1861 ttcatgaaat gaaattttct ccagatggtt cttaccttgc agtgggatcc aatgatggcc
     1921 cagtagatgt ctatgctgtt gcccagaggt ataagaaaat tggagaatgc agcaagtccc
     1981 ttagtttcat cacgcatatt gactggtcct tggatagtaa atacttacaa actaatgacg
     2041 gtgcaggaga acgattgttc tacagaatgc catctgggaa gcctttaaca agtaaagaag
     2101 aaattaaagg gattccttgg gcctcctgga catgcgtgaa aggccctgaa gtgagtggaa
     2161 tttggcccaa atacactgag gttactgaca tcaactcagt ggatgcgaat tacaacagct
     2221 cagtgctggt gtctggagat gattttggac tggttaaatt gtttaaattt ccttgtctca
     2281 agagaggagc caaatttaga aagtatgtgg gccattctgc acatgtcaca aatgtccgct
     2341 ggtcccatga ctttcagtgg gtgttgagca caggaggggc tgatcactca gttttccagt
     2401 ggaggtttat tccagaaggt gtcagcaacg gcatgctgga aactgcaccc caagaaggtg
     2461 gagctgattc ctacagtgaa gaatctgatt cagatttatc tgatgtgccc gaactggact
     2521 ctgatattga gcaagaagct caaatcaatt atgatcgcca ggtttacaaa gaagatctac
     2581 ctcagctaaa gcaacaaagt aaagagaaaa accacgcagt gcccttcctc aaacgagaaa
     2641 aggctcctga ggacagcttg aaactccagt tcatacacgg ttatagaggc tacgactgta
     2701 gaaacaatct gttctacaca caagctggag aagtagtcta ccacattgct gcagttgctg
     2761 tcgtgtataa tcggcagcag cactcccaga ggctgtacct ggggcacgat gacgacattc
     2821 tcagcctgac catccatcca gtgaaggact atgtggctac tgggcaggtt ggaagagatg
     2881 ctgctattca tgtgtgggac acacaaactc taaaatgttt gtcgctgttg aaaggacaac
     2941 atcagagagg agtgtgtgca cttgattttt cagccgatgg aaaatgtctg gtgtcggttg
     3001 gtttagacga ttttcacagt attgtatttt gggactggaa aaagggagaa aagatagcca
     3061 caacaagagg acataaagat aagatatttg tggtaaagtg taacccacac catgttgaca
     3121 aactggttac agttgggata aaacacatca aattctggca acaagcaggt gggggcttca
     3181 cttctaaaag aggaactttt ggaagcgttg gaaaattgga aacaatgatg tgtgtttctt
     3241 acggacgaat ggaagatcta gtgttctcag gagcagctac tggagatatt tttatttgga
     3301 aagacattct actactgaag acagtgaaag ctcatgatgg gcctgtgttt gctatgtatg
     3361 cactggataa gggctttgta acaggtggaa aggacggcat cgtggagctc tgggatgata
     3421 tgtttgaaag atgtttgaag acttatgcca ttaaaagatc agcattgtcg actagctcaa
     3481 aaggcttgct tttggaagat aacccttcaa ttcgtgccat cactttggga catggacata
     3541 tcctggtggg aacaaaaaat ggagagattc tggaaattga taagagtggc ccaatgacac
     3601 tgcttgttca ggggcacatg gaaggagaag tgtgggggtt ggcagctcac cctctcctgc
     3661 ccatctgtgc aacagtgagc gatgataaaa cacttcgcat ctgggaacta tctgcccagc
     3721 accgtatgct ggcagtacgg aaactcaaaa aaggtggaag atgctgtgcc ttttcccctg
     3781 atgggaaagc cttagcggtt ggcttgaacg atgggagttt cctggtggta aatgctgaca
     3841 ctgttgaaga catggtctct ttccatcaca gaaaagaaat gatctctgat attaagtttt
     3901 caaaagatac gggaaaatac cttgccgtgg catcccatga taactttgtg gatatttaca
     3961 acgtacttac aagcaaaagg gttggcatct gtaaaggtgc ttctagttat attacacaca
     4021 ttgactggga ctctagagga aaattattgc aagtgaattc aggtgccaga gaacaacttt
     4081 tttttgaagc tccaagaggc aaacggcata taataagacc ttcagagatc gagaagatag
     4141 agtgggacac atggacctgt gtcctggggc ccacctgtga gggaatctgg ccagcacata
     4201 gcgatataac tgacgtaaat gctgccagtc ttaccaaaga ctgttccctt ttagccaccg
     4261 gagatgattt tggtttcgtt aagctttttt catatcctgt caagggacag cacgcaagat
     4321 tcaagaagta tgtggggcac agtgcacatg tcactaacgt gaggtggctg cacaatgact
     4381 ctgtgctgct cacggtgggc ggcgccgaca cagccctgat gatctggacc agggagtttg
     4441 tggggaccca ggagagcaag ctggtggaca gcgaggagtc agacaccgac gtggaagagg
     4501 atggaggcta tgacagcgat gttgctagag aaaaggccat tgactacacc accaagattt
     4561 atgctgtgag catcagggaa atggaaggca ccaagccaca ccagcagctg aaggaagttt
     4621 ccgtggaaga aagaccaccc gttagccgag cagctcccca gcctgagaaa ctgcagaaga
     4681 acaatatcac caaaaaaaag aaactggttg aggagctggc tctagaccac gtgtttggct
     4741 acagaggttt cgactgtcga aataacctgc attaccttaa tgatggcgct gacatcatct
     4801 tccacacagc agcggctggc atcgttcaga acctctccac agggagccag agcttctatc
     4861 tggagcacac agatgacatc ctctgtctca cagtgaacca gcaccccaag tacagaaacg
     4921 tggtggccac cagccagata gggacaacac cttccatcca catatgggac gccatgacca
     4981 aacacaccct ctccatgctg cggtgcttcc actccaaggg ggtgaattac atcaacttca
     5041 gtgcaactgg aaagctcctg gtgtcggtgg gagtggaccc tgagcacacc atcactgtct
     5101 ggcgatggca ggaaggtgcc aaggttgcca gccgaggggg tcacctggag cgcatatttg
     5161 tggtggaatt tcgccccgac tcagacacgc agtttgtatc tgtcggggtc aaacatatga
     5221 agttctggac cctggcaggc agcgccttgc tttacaagaa aggggtcatc gggtccctgg
     5281 gagctgccaa aatgcagacg atgctctccg tggccttcgg tgctaacaat ctcactttca
     5341 cgggtgccat caatggagat gtctacgtct ggaaggacca cttcctcatc cggctggtgg
     5401 ccaaggctca cacaggcccc gtgttcacaa tgtacacaac ccttcgggat ggactcatag
     5461 tgaccggcgg aaaagagagg ccgaccaaag aaggaggtgc tgtaaaattg tgggaccagg
     5521 agatgaagcg ctgccgggcc tttcagctgg agaccgggca gctggtggag tgtgtgcgct
     5581 ccgtgtgccg tggaaaagga aaaatcttag tgggaaccaa agacggagaa ataattgaag
     5641 ttggtgaaaa aaatgctgct tctaacatcc tgattgatgg tcacatggaa ggggagatct
     5701 ggggcctggc cactcaccct tccaaggacc tcttcatctc tgccagcaac gatggcacag
     5761 cccggatctg ggacctggct gacaagaagc tgttaaacaa ggtgagcttg ggccatgcgg
     5821 ccaggtgtgc agcctacagc cctgatgggg agatggtggc cattggcatg aagaatggag
     5881 agtttgtcat cttgttggtg aacagcctga aagtttgggg gaaaaaacga gaccggaaat
     5941 ctgctatcca agatatcaga atcagcccag acaaccgatt cttagccgtt ggttcttctg
     6001 aacacacagt tgacttctat gacctcactc agggcacaaa tctgaaccgc attggctact
     6061 gcaaagatat cccaagcttt gtcattcaga tggatttttc tgcggatggc aaatacattc
     6121 aggtgtcaac aggtgcctat aagcgccagg tgcatgaggt ccccctgggg aagcaggtaa
     6181 ctgaagccgt ggtcattgag aagatcacct gggcctcctg gacaagcgtc ctgggagatg
     6241 aagtcattgg aatctggcca cgaaatgcag acaaggctga tgtcaactgc gcatgtgtga
     6301 cccacgctgg cctgaacatt gtcacaggag atgactttgg gctggtgaag ctctttgatt
     6361 ttccatgcac agaaaaattt gccaaacata agcgatactt cggtcactcg gctcacgtga
     6421 cgaacatccg tttctcttat gatgacaagt atgtggtcag cactggagga gacgactgca
     6481 gtgtatttgt gtggcgatgt ctgtaaaatg ccagaagcct cttatgttat tgctgctgct
     6541 gctaccagcc agcaactgca gaggccatgc tgaggtgcct ccttgccacc agccgttggg
     6601 aaatgcctac catgctgccc cggatgcaca agctcaaaac gctgcagaag ttacacaact
     6661 gctcccataa tctggactct ccaaaaccgt gatgccacga aggaaggtca agttttaaaa
     6721 tgttaaagac tgcttgcctc tgttcctgag actaaacagt atacatacta actacattga
     6781 caaagaaatc ctatctgata atgtagcccg ctgacgaatt ttgaagcctc ggttacccta
     6841 accaatatgt agcttttaat ttgcatcaaa acttttacaa agatgttttg ctattgtttc
     6901 tatatacttc aagaatgttc atttttacaa ataagttgaa caagacagcc taagttagat
     6961 gcaccgaagt actagaaata tcgctagcct ctgttctcca gtttagcttt caaaaccaaa
     7021 tgagccatgt ataaaggagt tgagaaactt aatttttaaa tgtttcattt gcagagtttt
     7081 atatccatta agtgcctttg aaagtttcca gttgtgtggg ctgctgtctc acctcccacc
     7141 aatttctcct ttctccatat ggtgctaaaa cctcaaagct gaggagggct gcaggaccct
     7201 tagcagattc agtgtgtcac ccttgtcctg tgttcacgcc aaggcttcct aaatgaaaga
     7261 catcggttac ctgcttatgg gaaggtgagc agcaaaggaa ttgaagttcg ggacagggta
     7321 gaattatggg ttttcattgt gtttcatgcc aaacccacaa aatccaaaat agaattcaag
     7381 ttaaacaaac ttctactaca aaatggaagg ggaaaaaggc tcaggaaggt ctatgagaat
     7441 gagctgactt atctcgttaa atcttaagat aaatgagggt aacccaaggc tgcaccttgg
     7501 tgtaccaccc tgagtggagt tgaggtgact tcatttgatt gcttcaggcg aactatatag
     7561 gtcaagtcca gattataaaa aaattatctg cagaacaaat tgtaaaccca aggaatagct
     7621 ggtaaatcaa aattataaag tgagttagag ttccttggag ttggttgtat gacggaatat
     7681 gacttggaca atctttacca gaagccatcc gtaagcccct cagtcacact ttccatgtag
     7741 ctgaccagtg actacaggat gtggctgaca gtgctcactg aaaggagagt tggtgcggga
     7801 ctggtggttc tgagcacata gacgcctatt agtccttctg gtcagtgaac gaaaattcta
     7861 gacctacagt tactggctac ttgcatttgt cagtttagag aaaaggtaaa atgaggcatt
     7921 ttcaattgta gaatagacta acatttacca cagaagtgct tcagcattct aaatggatta
     7981 gatcactcat taagctattt ttatatgcca atttactaat gccttacatc aatccactaa
     8041 taggttgttg ggcccgcagt agagtcccta tgcagtccca attctgtttt ctgtaaccat
     8101 gtgactggtg atgcagagtg ataaccatgt ctgcctatct tgtactagac tcttcatgct
     8161 gatcggatct tgcattgaaa taaccatgtg gaagaacaat gaatcgatta atgatgacat
     8221 gtacaaccat atttaaagag caatagtgtc cgtgtgtcat gaaaaactta tttgtaaacg
     8281 tttatatggt atgattttga ttttatgtat gttcataaat cctgcactgt atgatatatg
     8341 tgagttaaaa cattggtgca tgaatttatt ttcaaagtat aaaacacatc acttaaacat
     8401 tttatgtgtc aaataaaatt tgattatgta aacaca
//
LOCUS       NM_001039762            4836 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens inhibitory synaptic factor 2A (INSYN2A), mRNA.
ACCESSION   NM_001039762
VERSION     NM_001039762.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4836)
  AUTHORS   Cherik F, Lepage M, Remerand G, Francannet C, Delabaere A, Salaun G,
            Pebrel-Richard C, Gouas L, Vago P, Tchirkov A and Goumy C.
  TITLE     Further refining the critical region of 10q26 microdeletion
            syndrome: A possible involvement of INSYN2 and NPS in the cognitive
            phenotype
  JOURNAL   Eur J Med Genet 64 (9), 104287 (2021)
   PUBMED   34252586
  REMARK    GeneRIF: Further refining the critical region of 10q26 microdeletion
            syndrome: A possible involvement of INSYN2 and NPS in the cognitive
            phenotype.
REFERENCE   2  (bases 1 to 4836)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 4836)
  AUTHORS   Uezu A, Kanak DJ, Bradshaw TW, Soderblom EJ, Catavero CM, Burette
            AC, Weinberg RJ and Soderling SH.
  TITLE     Identification of an elaborate complex mediating postsynaptic
            inhibition
  JOURNAL   Science 353 (6304), 1123-1129 (2016)
   PUBMED   27609886
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK127465.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA1968832
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000522781.6/ ENSP00000429763.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL390920.22, AK127465.1 and BC137112.1.
            On Nov 22, 2018 this sequence version replaced NM_001039762.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4836
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.2"
     gene            1..4836
                     /gene="INSYN2A"
                     /gene_synonym="C10orf141; FAM196A; INSYN2"
                     /note="inhibitory synaptic factor 2A"
                     /db_xref="GeneID:642938"
                     /db_xref="HGNC:HGNC:33859"
                     /db_xref="MIM:617129"
     misc_feature    903..905
                     /gene="INSYN2A"
                     /gene_synonym="C10orf141; FAM196A; INSYN2"
                     /note="upstream in-frame stop codon"
     CDS             990..2429
                     /gene="INSYN2A"
                     /gene_synonym="C10orf141; FAM196A; INSYN2"
                     /note="protein FAM196A; inhibitory synaptic protein 2;
                     family with sequence similarity 196 member A"
                     /codon_start=1
                     /product="inhibitory synaptic factor 2A"
                     /protein_id="NP_001034851.1"
                     /db_xref="CCDS:CCDS31312.1"
                     /db_xref="GeneID:642938"
                     /db_xref="HGNC:HGNC:33859"
                     /db_xref="MIM:617129"
                     /translation="MVSKDTGKCILTTSESEVEPAACLALEMKYALDPNRQIKKRNKAL
                     QVRFKDICEAQNEQRDTQLSSGQLGEKREAKPVSCRAAYRKYMTVPARRSIPNVTKSTG
                     VQTSPDLKKCYQTFPLDRKKGNLKSLPAADPFKSQNNGFLTDAKEKNEAGPMEEARPCG
                     AGRVHKTTALVFHSNQHMNTVDQPLGVNCTEPCKSPEPLSYGEAALQNSTRPPSEEPDY
                     QLLGRAKQDRGRPNSEEPAPPALRRVFKTEVATVYAPALSARAPEPGLSDSAAASQWSL
                     CPADDERRRATHLNGLQAPSETALACSPPMQCLSPECSEQPSQTHTPPGLGNQPSPTAV
                     AAGEECQRIVPHTEVVDLKAQLQMMENLISSSQETIKVLLGVIQELEKGEAHREGLSYR
                     TGQDTANCDTCRNSACIIYSVELDFKQQEDKLQPVLRKLHPIEETQVIPSPYSQETYSS
                     TPKQKSKTESKKHGRWKLWFL"
     misc_feature    1518..1520
                     /gene="INSYN2A"
                     /gene_synonym="C10orf141; FAM196A; INSYN2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3USH1; propagated from
                     UniProtKB/Swiss-Prot (Q6ZSG2.1); phosphorylation site"
     misc_feature    1665..1730
                     /gene="INSYN2A"
                     /gene_synonym="C10orf141; FAM196A; INSYN2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSG2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1932..2003
                     /gene="INSYN2A"
                     /gene_synonym="C10orf141; FAM196A; INSYN2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSG2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2334..2405
                     /gene="INSYN2A"
                     /gene_synonym="C10orf141; FAM196A; INSYN2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZSG2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2581..2586
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSYN2A"
                     /gene_synonym="C10orf141; FAM196A; INSYN2"
                     /note="hexamer: AATAGA"
     polyA_site      2598
                     /gene="INSYN2A"
                     /gene_synonym="C10orf141; FAM196A; INSYN2"
                     /note="major polyA site"
     regulatory      4818..4823
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSYN2A"
                     /gene_synonym="C10orf141; FAM196A; INSYN2"
                     /note="hexamer: AATAAA"
     polyA_site      4836
                     /gene="INSYN2A"
                     /gene_synonym="C10orf141; FAM196A; INSYN2"
                     /note="major polyA site"
ORIGIN
        1 ggggctccgc ccgcctcggt gccagccggg cgcacaggcg gcaggcgcgc ggcttggggc
       61 gccctcgcct ctggccgccc ggctccgcgg agtagctggg acctggagca gcggaaagga
      121 cttccctcct gctccctcct ctgccccgcc cccgcctcct ggccctggct ctgagatctc
      181 gccgaagaca attgcagtaa atgaggacat cggaggagcg cgaagccggg tggctgtggc
      241 tggctccgcc gcgtcgcgag caagcgagcg cgcgggcgtc cccggagctg gcccagccgc
      301 tgcctccccg cgcgcgtcgc taagcggggc cggagggacg cgagcgacgc gagctgcggc
      361 gcgggggccg gccgggccag cagggccggg ccggcagcgg tggagggggc gggcagcagg
      421 cgcgcagcgg gccaagtccc cggagccgag gcttcctccg cgtgagcgcg gcgagtctgg
      481 ccgcggatgc cctgtccgga gtgctccgtg ccgccccagg cttgccaggg tccgcagcga
      541 gacatgcccg agccaggcgc tgcatcgacc tcgacttatc tgtaagcagc ggaagatcct
      601 gaaggcacta actaaggtat ctccaggcaa ccaaggatct tacctctcac attgagaaaa
      661 accataactt cagagacatt tcctggctcc aaattcaagt cctttcagag acccctctac
      721 taattatttt ccagtaccac tctccatgga ataaaaggag ttgcaaacat ggcctttgta
      781 gatgcaggga aacccacgtt ccttttagag ctgatgttaa cccatgagaa gcgaccaccc
      841 ctcgacgact tctccttcac ggttcccacc caggagcacg gccaactctc ccccggaatc
      901 cataacggct cacgcaaata gatttctttc cgttcctcct cggagggctc tccacattta
      961 tctgctcgag acgtggcagc tccagaacca tggtcagtaa ggacaccggc aaatgcatac
     1021 tcacaacgtc ggagagtgaa gtggaacccg ccgcctgcct ggccctggag atgaaatacg
     1081 ccctggaccc caaccggcag attaaaaaac ggaacaaagc cctgcaggtg cggtttaagg
     1141 atatctgcga ggcacagaat gagcagaggg acacacagct gtcctcgggc cagctggggg
     1201 agaagcggga ggccaagccc gtgtcctgca gagcagccta ccgcaaatac atgacagtgc
     1261 ccgcacgcag gtccatcccc aacgtcacca agagcacagg cgtgcagacc tcgcccgacc
     1321 ttaagaagtg ttaccagacg ttccctctgg accgcaaaaa ggggaacctc aaaagcctcc
     1381 cagctgcaga tccctttaaa agccaaaaca atgggtttct aacagatgcg aaagagaaga
     1441 acgaggctgg acccatggag gaggcccggc catgtggcgc ggggcgggtg cacaagacca
     1501 cagccttggt tttccattcc aaccaacaca tgaacacagt ggaccagcct ttgggggtca
     1561 actgcacaga gccctgtaaa agcccggagc cgctcagcta tggagaagct gcgctccaaa
     1621 actccactcg gcctccatcc gaagagcccg attaccagct gctcgggagg gccaagcagg
     1681 accgggggag gccaaactcc gaggagcccg ctccacctgc cctcaggagg gtgtttaaaa
     1741 cggaggttgc caccgtttac gcacctgccc tcagtgccag ggcccccgag cctggtttgt
     1801 cagactctgc agccgccagc cagtggtcac tctgcccggc agatgacgag cggaggagag
     1861 ccacacatct caacgggctc caggcgccct cggaaactgc cctggcctgc tcacccccga
     1921 tgcagtgcct gtcccccgaa tgtagtgagc agccgtcgca gactcacacc ccgccggggc
     1981 tggggaacca gcctagtccc acagcggttg ctgcaggtga agaatgccaa cgaatcgtgc
     2041 ctcatacgga agtggtcgac ctcaaagcac aacttcagat gatggagaac ttgatcagtt
     2101 caagccaaga aaccatcaaa gtgctcttgg gggtcattca ggagttggaa aaaggagagg
     2161 cccatcggga agggctttca tatcggacgg ggcaagacac agctaattgt gacacatgca
     2221 ggaacagtgc atgtattatc tatagtgtgg agctggattt taagcagcaa gaagacaaac
     2281 tccagccggt tctaagaaaa ctccacccta ttgaggaaac tcaggtcata ccttcgcctt
     2341 actctcagga gacttactcc tcaactccca agcaaaaatc caaaactgaa tctaaaaagc
     2401 acggaagatg gaaactctgg ttcctttaac actcacggtg tctggagtct cgaggccgtc
     2461 tttagaaccc actggagttt aagtcaatac ttttccaaaa tgaataggat cgagggaact
     2521 gtggtgccca ttcaggcacc tcccacttct cgccctgcgt accaaaaagg cctttgtacc
     2581 aatagataat taacagaagc aaggtattct gtgtcactcc ttgccagctg ttctttgcag
     2641 ttcactgatg tgggatgtaa aatctgaaat gaaacttacg tagtcaaaga tgataagtaa
     2701 aaattttccc ccacccccga tctgcaagta atacattatc aacctgcgag atggcaggct
     2761 gtcaccctgt acacagctat aactcataat tattttcaag ccttgatttt ttttttaaat
     2821 aatgagaaga aaaagcaagc cttatgtttg cgaaggactt catttttatg tttcattttg
     2881 caaataagca gggggcgagt gcaattttca gcacatcaaa ttccggagaa agcacaattt
     2941 tttcaagtgg tcggagacca tgaataatct ctaaaatgtg actatatgta tatttgcctt
     3001 catgtgctat agcgctaagc caagtgacca catctcagtg tcacaacgac acctcaaatt
     3061 tagcatcctc ttcatctcca gacttacgac atgtttactg ctcattttcc aaatggccag
     3121 cagccaggag tcccccaaag tcaggatatg cctttaatca ctgcaagtag acagggtcag
     3181 agctattgga cactaagttt tcttagatct catttttaat cttttggtac ccaaaggcca
     3241 aataatacat tctggcaaga atctgagaac atacatagag atacacgatg gataatccac
     3301 ccaccaataa atcacaggca ttctgtgcca tggcagacag tgtttttgtg gatcgatcct
     3361 ccgagacact gttagccatg gtaagtgcag ccagacgtta tgtacaattc gttatgcttt
     3421 gtattaatgg tggaagccct gaccatctca aagagaaaca gtgcgtttag tttagctgct
     3481 accaagggac aatgtcgcct acatttaacc tattagtaag ttgtactaaa caacatactt
     3541 aggggaaagc tgtgaatcaa atgtttttag gtatttttta aatcaacagt aacacttaga
     3601 gttctctctt gattacacat tgcaatgtaa atcttagttc ctttattttt tcactcattt
     3661 ctttgcacct ttgcaagtat ctttttatag aaatcaaatc ccctagtcta ttaatgactt
     3721 tgtctatcaa ttttttgatt ttcacaatag gaagtaggga tcttactttg cctttttttt
     3781 tttttttgta caacttaaat tttgaatagt ttgtgagcat acaggaaaac ctagtcttga
     3841 agtttctgtc cagcagtttc acatctagtg gagtgctgac atgcacacct cattgactag
     3901 atgccaaaca cacagtggct aaccttggta aaaggatctc acctgctttt gtcagattgg
     3961 agctgcttct tgccatgtat tttcctcctg actcaacagc aaatctgttt tagttctaag
     4021 tgttttgatt ctacaaggac ctagtgatca gtaaccagat cgggccttga aaaaaaaatg
     4081 aagagtatgt cgtgtaaaca ttcttcgggg gccaaacaac actgcagttg tatgctttaa
     4141 tttaaaacac acatgtgcac acacacatcc tctgcggaaa cactatatga agttcgaatc
     4201 cctgaatatc aataaaagga actgagaaat attttggtgc aagaacaatg aggaagttga
     4261 tcctgtaaca tgaaggaagt gtaactgttt cacgtagact aaatatttaa aaatgggttt
     4321 catgtttttt atactgtttt taactaaagt tataaaaatg tttccaacaa gttctctctc
     4381 cttatgtttt aagaatccca actatctcag taaattgaaa taagggtatt agcagttttc
     4441 taattagtaa cacaaatctg tctaaacaag aggacatcct agtacacaaa ataatgtcac
     4501 tgtttcacac cagtctagac caaaaaaaaa taaaattaaa atgttcagag tcaaaaagga
     4561 acttctgaag ataaattaat tcatccctaa aaattaaagt gtgttcaaaa tagaaaaact
     4621 attgtcaaaa tcatttcata gtttaattgc aacacgtcac taacagatgg tgattcttct
     4681 cttggaaaga ttcaagtaaa aacgctgata caaaagcaag gtaaaacgca cagggttccc
     4741 ttatgtagat gtacacatgg cattgcatat agagattaaa ttattatact tgtcgttaag
     4801 ttctttatta atttttaaat aaaaaaatca aagatg
//
LOCUS       NM_001039763            3115 bp    mRNA    linear   PRI 20-JUL-2023
DEFINITION  Homo sapiens transmembrane protein 232 (TMEM232), mRNA.
ACCESSION   NM_001039763
VERSION     NM_001039763.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3115)
  AUTHORS   Han J, Cai X, Qin S, Zhang Z, Wu Y, Shi Y, Deng T, Chen B, Liu L,
            Qian H, Fang W and Xiao F.
  TITLE     TMEM232 promotes the inflammatory response in atopic dermatitis via
            the nuclear factor-kappaB and signal transducer and activator of
            transcription 3 signalling pathways
  JOURNAL   Br J Dermatol 189 (2), 195-209 (2023)
   PUBMED   36928730
  REMARK    GeneRIF: TMEM232 promotes the inflammatory response in atopic
            dermatitis via the nuclear factor-kappaB and signal transducer and
            activator of transcription 3 signalling pathways.
REFERENCE   2  (bases 1 to 3115)
  AUTHORS   Zheng J, Wu YY, Fang WL, Cai XY, Zhang ZY, Yu CX, Zheng XD and Xiao
            FL.
  TITLE     Confirming the TMEM232 gene associated with atopic dermatitis
            through targeted capture sequencing
  JOURNAL   Sci Rep 11 (1), 21830 (2021)
   PUBMED   34750414
  REMARK    GeneRIF: Confirming the TMEM232 gene associated with atopic
            dermatitis through targeted capture sequencing. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 3115)
  AUTHORS   Wu YY, Tang JP, Liu Q, Zheng XD, Fang L, Yin XY, Jiang XY, Zhou FS,
            Zhu F, Liang B, Li Y, Zuo XB, Zhang XJ and Xiao FL.
  TITLE     Scanning indels in the 5q22.1 region and identification of the
            TMEM232 susceptibility gene that is associated with atopic
            dermatitis in the Chinese Han population
  JOURNAL   Gene 617, 17-23 (2017)
   PUBMED   28351738
  REMARK    GeneRIF: TMEM232 is the causal gene for atopic dermatitis in Chinese
            Han population.
REFERENCE   4  (bases 1 to 3115)
  AUTHORS   Ramasamy A, Curjuric I, Coin LJ, Kumar A, McArdle WL, Imboden M,
            Leynaert B, Kogevinas M, Schmid-Grendelmeier P, Pekkanen J, Wjst M,
            Bircher AJ, Sovio U, Rochat T, Hartikainen AL, Balding DJ, Jarvelin
            MR, Probst-Hensch N, Strachan DP and Jarvis DL.
  TITLE     A genome-wide meta-analysis of genetic variants associated with
            allergic rhinitis and grass sensitization and their interaction with
            birth order
  JOURNAL   J Allergy Clin Immunol 128 (5), 996-1005 (2011)
   PUBMED   22036096
REFERENCE   5  (bases 1 to 3115)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction Assessment
            with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   6  (bases 1 to 3115)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3115)
  AUTHORS   Vasan RS, Glazer NL, Felix JF, Lieb W, Wild PS, Felix SB, Watzinger
            N, Larson MG, Smith NL, Dehghan A, Grosshennig A, Schillert A,
            Teumer A, Schmidt R, Kathiresan S, Lumley T, Aulchenko YS, Konig IR,
            Zeller T, Homuth G, Struchalin M, Aragam J, Bis JC, Rivadeneira F,
            Erdmann J, Schnabel RB, Dorr M, Zweiker R, Lind L, Rodeheffer RJ,
            Greiser KH, Levy D, Haritunians T, Deckers JW, Stritzke J, Lackner
            KJ, Volker U, Ingelsson E, Kullo I, Haerting J, O'Donnell CJ,
            Heckbert SR, Stricker BH, Ziegler A, Reffelmann T, Redfield MM,
            Werdan K, Mitchell GF, Rice K, Arnett DK, Hofman A, Gottdiener JS,
            Uitterlinden AG, Meitinger T, Blettner M, Friedrich N, Wang TJ,
            Psaty BM, van Duijn CM, Wichmann HE, Munzel TF, Kroemer HK, Benjamin
            EJ, Rotter JI, Witteman JC, Schunkert H, Schmidt H, Volzke H and
            Blankenberg S.
  TITLE     Genetic variants associated with cardiac structure and function: a
            meta-analysis and replication of genome-wide association data
  JOURNAL   JAMA 302 (2), 168-178 (2009)
   PUBMED   19584346
REFERENCE   8  (bases 1 to 3115)
  AUTHORS   Yang Q, Kathiresan S, Lin JP, Tofler GH and O'Donnell CJ.
  TITLE     Genome-wide association and linkage analyses of hemostatic factors
            and hematological phenotypes in the Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S12 (2007)
   PUBMED   17903294
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.169808.1, AK296542.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000455884.7/ ENSP00000401477.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM465182.1, AK296542.1 and AC010349.7.
            On Nov 22, 2018 this sequence version replaced NM_001039763.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3115
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q22.1"
     gene            1..3115
                     /gene="TMEM232"
                     /note="transmembrane protein 232"
                     /db_xref="GeneID:642987"
                     /db_xref="HGNC:HGNC:37270"
                     /db_xref="MIM:620143"
     misc_feature    52..54
                     /gene="TMEM232"
                     /note="upstream in-frame stop codon"
     CDS             58..2031
                     /gene="TMEM232"
                     /codon_start=1
                     /product="transmembrane protein 232"
                     /protein_id="NP_001034852.3"
                     /db_xref="CCDS:CCDS47253.2"
                     /db_xref="GeneID:642987"
                     /db_xref="HGNC:HGNC:37270"
                     /db_xref="MIM:620143"
                     /translation="MNMPVNKSPMINTCGGISSPYHEELWKLNFQHLSGERGHKSRPTF
                     SITKEFILRFNQTQNSKEKEELLELARKIILRCKRKLGLKTLGSGRHVHLPAAWTEVIY
                     LAQCKGEIQDESLNMLYASLDHASFDYDHLPALFFVAESVLYRLCCDASLKTYLYSVEI
                     KLAKIGYLVFLRLFIFFLHGHLESFKQHLLRLQPYLYALSFSGASYHKYPNIFSNVQFI
                     LKASEIIGKRELRSESIFRPVEDKKRYENTDSDMGGYEINHLLWHCVAAWSCVQNNSPQ
                     LNNVLEHLVFHKTQLQKKCWLDSVLALLVLGEAAKLNMACLKALMDVVRDFVSSIMSVQ
                     NQEESCKVDDFSWAWNVVYIYTVILAEICLYAATSDLRKTALIGFCHCKSSQKNILYLD
                     KSVPPELKETSILSLLEYFSSKMSENCDQVVWTGYYGLVYNLVKISWELQGDEEQDGLR
                     NMIWQTLQKTKDYEEDVRIQNAINIAQAELNDPTDPFTRYSTNISSNVGEEVFSKYIGW
                     RIANTLSKLFFPPIEAHFLPLKKPSIKKDQTKYPNKKLESVKKQVLHFTVREHPSVSEI
                     PMFPYPDFFTKADKELAKIIDHHWQEELKIREKEDAICKAQELKDKKLAEKNHFQEVMK
                     KREEKLHKQTKPYELPYRKEVI"
     misc_feature    559..621
                     /gene="TMEM232"
                     /note="propagated from UniProtKB/Swiss-Prot (C9JQI7.2);
                     transmembrane region"
     misc_feature    1114..1176
                     /gene="TMEM232"
                     /note="propagated from UniProtKB/Swiss-Prot (C9JQI7.2);
                     transmembrane region"
     regulatory      2478..2483
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM232"
                     /note="hexamer: AATAAA"
     polyA_site      2500
                     /gene="TMEM232"
                     /note="major polyA site"
     regulatory      3092..3097
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM232"
                     /note="hexamer: AATAAA"
     polyA_site      3115
                     /gene="TMEM232"
ORIGIN
        1 gtccttagca accagccttg gttcccagcg gctcagagcg cagcgaattt atgatttatg
       61 aatatgcctg ttaacaaatc acctatgatt aatacatgtg gaggcatatc ttccccttat
      121 catgaagagc tctggaaatt aaattttcaa catttaagtg gagaaagggg tcataaatca
      181 aggccaacat tttcaatcac aaaagaattc atcttgagat tcaatcaaac acaaaattcc
      241 aaagagaagg aagaattgtt ggaactagct agaaaaatca ttctcagatg taagagaaaa
      301 ttgggtctca aaaccctggg ctctggaagg catgtgcatc ttcctgctgc atggactgaa
      361 gtaatatatc tggctcaatg caaaggggaa atccaagatg aatctttaaa tatgctttat
      421 gcatctctgg accatgcttc ctttgattat gatcatctgc ctgccttatt ttttgttgcg
      481 gaatcggttt tatacagact gtgttgtgat gcatccctca aaacatattt atattcagtt
      541 gaaataaagc tagcaaagat tggctatttg gtcttcttac gactttttat atttttcctg
      601 catggtcatc tagaaagttt taaacaacat ttacttaggc ttcaaccata tttatacgca
      661 ctttctttct ctggagcatc atatcacaag tatccaaaca tcttttcaaa tgtgcaattc
      721 atcctgaaag cctcggaaat tataggtaaa agagaactcc gttctgaatc catttttaga
      781 cctgtggaag ataagaaaag atatgagaac acagattctg atatgggagg atatgaaatt
      841 aaccacctgc tctggcactg tgttgctgct tggtcttgtg ttcagaataa cagtcctcag
      901 ttgaataacg tgcttgaaca tctcgtcttc cataagacac agcttcaaaa gaaatgctgg
      961 ttggattcag tactggcttt actggtcctt ggggaggctg ccaaattaaa catggcctgc
     1021 ttgaaagctt taatggacgt agtgagagat tttgtttcaa gcattatgtc tgttcaaaat
     1081 caggaagaaa gttgcaaggt agatgatttt tcctgggcct ggaatgtagt ctacatatat
     1141 acagtaattc ttgcagaaat ctgcttgtat gcagccactt ctgatttgcg aaaaactgct
     1201 ttaattggtt tctgtcactg taaaagttca caaaaaaata ttttatactt ggacaaatca
     1261 gtacctccag aattaaagga aacaagtatt ttaagtcttt tggaatattt ctcttcaaaa
     1321 atgtcagaga actgtgatca agtagtctgg actggttact atggcttagt gtataacctg
     1381 gtgaaaattt catgggaact tcaaggagac gaagaacagg atggacttag aaacatgata
     1441 tggcaaacat tgcagaaaac aaaggattat gaggaagatg tacgaatcca aaatgcaatc
     1501 aatatagctc aggctgagtt aaatgaccca actgatcctt tcactagata tagtacaaat
     1561 atttcatcaa atgtaggaga agaagttttc tccaaatata ttgggtggag aattgccaac
     1621 actctttcca aactattctt tccccccatt gaggcccatt ttcttccttt gaagaaacca
     1681 tcaataaaaa aggatcaaac aaaatatcca aataaaaagc tggagtctgt gaaaaagcaa
     1741 gttctacatt tcactgtaag ggaacatcct tctgtatcag aaattcccat gtttccatat
     1801 ccagatttct tcaccaaggc agataaagag ttggcaaaaa tcattgacca tcactggcag
     1861 gaagagctaa agatccgaga aaaagaagat gcaatatgca aggcccaaga acttaaagat
     1921 aaaaagttag cagagaaaaa tcactttcaa gaagttatga agaaaagaga agagaaacta
     1981 cataagcaaa ccaagcccta tgaacttcct tataggaagg aagtaattta attagaaaag
     2041 aaaatgtcac ctcccaaaat tgaggactac atggcagaaa tacataggat gaaaaatacc
     2101 aagatagcta catagtaaga gaactttctt gtcattaaat ggaggtattg tttagaaaga
     2161 atttgttttc ctgatacaag ctgtttgttt aatagttatt tcttagttct aaattaatga
     2221 ccaactttta atcacacttg aatgaagtga tttcactagt caaaaatttc caagactaca
     2281 tctagtattt ttctcaattg acctttatct catgattgta cagcatactt gataactgat
     2341 tctcagaaca ttgatattca tcaaacaaac agtttgatgg aaattcatta caaattaatt
     2401 aatgggtcac cagataagaa ttatttcttg aaaacagaat gaacataaac taacaatcct
     2461 gtaattacta ttattcaaat aaaaacagta tggcatctta tttgattggc attttatagt
     2521 caatttatac caaaccaaac aaaccctatt tcagagattt gaatctggga gggctggtca
     2581 tcttagattg attggcttga tctttaacag atgccagagg ggattcctga gagatggtgg
     2641 ttttactctg ttctgtgagt ttatgagaat gaattcttat gaacctggaa ggtccaggag
     2701 caactgctga agacattcat agaaatagga gttattttag aaatggaact tcacttcatc
     2761 tgaagttctg aacctatgag taagagtaat agggtggagt ttttgtgatg tcttatattc
     2821 ctttcctgaa aactgaaaaa tatagataat actcatacct cgatttcaca cagatgactt
     2881 ggtgatactc aagagacaga gacttttatc aggggtgtca aactcaaatg actaccaggt
     2941 cagaaaggta acataaatta gtgaagccgg ctaaggaata cctatcccat atagagaaat
     3001 ttcccatcac tcggttacat tccaaaatgt atgtcagtat tgtaaaatca tccagccttt
     3061 caagaagctt ttaaatggga ttatttttca aaataaaagt agctaagtaa ccaaa
//
LOCUS       NM_001039770            4310 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens transmembrane protein with metallophosphoesterase
            domain (TMPPE), transcript variant 1, mRNA.
ACCESSION   NM_001039770
VERSION     NM_001039770.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4310)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK126979.1, SRR5189667.227919.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000342462.5/ ENSP00000343398.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC112211.2, AK126979.1, BC136872.1 and AK128242.1.
            On Nov 22, 2018 this sequence version replaced NM_001039770.2.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4310
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.3"
     gene            1..4310
                     /gene="TMPPE"
                     /note="transmembrane protein with metallophosphoesterase
                     domain"
                     /db_xref="GeneID:643853"
                     /db_xref="HGNC:HGNC:33865"
     misc_feature    471..473
                     /gene="TMPPE"
                     /note="upstream in-frame stop codon"
     CDS             537..1898
                     /gene="TMPPE"
                     /EC_number="3.1.-.-"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="transmembrane protein with metallophosphoesterase
                     domain isoform 1"
                     /protein_id="NP_001034859.2"
                     /db_xref="CCDS:CCDS33732.1"
                     /db_xref="GeneID:643853"
                     /db_xref="HGNC:HGNC:33865"
                     /translation="MAIFRQLSLGAKATLAAVTVFVSMIASRSYLAESLELRAWRWLLR
                     LQLALFVNSLLLIGSLYIWRSTVSNLCHSPAAESTCFQLWKVVVLAFLALAHSSFFTMF
                     FLVAEEPYLFSLAAYSCLGAYIIMLFFLFILSGMEQAYQLLAWRSGRVVGSLEKTRKLV
                     LRPALAVGVTAVLSVAGILNAAQPPAVKTVEVPIHQLPASMNNLKIVLLSDIHLGPTVG
                     RTKMEMFVRMVNVLEPDITVIVGDLSDSEASVLRTAVAPLGQLHSHLGAYFVTGNHEYY
                     TSDVSNWFALLESLHVQPLHNENVKISATRAQRGGGGSGSGSEDEDWICLAGVDDIEAD
                     ILHYSGHGMDLDKALEGCSPDHTIILLAHQPLAAKRALQARPDINLILSGHTHAGQIFP
                     LNVAAYLLNPFFAGLYQVAQATFVYVSPGTAYYGIPMRLGSRAEITELILQRSP"
     misc_feature    555..617
                     /gene="TMPPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZT21.2);
                     transmembrane region"
     misc_feature    663..725
                     /gene="TMPPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZT21.2);
                     transmembrane region"
     misc_feature    795..857
                     /gene="TMPPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZT21.2);
                     transmembrane region"
     misc_feature    876..938
                     /gene="TMPPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZT21.2);
                     transmembrane region"
     misc_feature    1020..1082
                     /gene="TMPPE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZT21.2);
                     transmembrane region"
     regulatory      4279..4284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMPPE"
                     /note="hexamer: AATAAA"
     polyA_site      4310
                     /gene="TMPPE"
                     /note="major polyA site"
ORIGIN
        1 agtcaagtga cgcgaagcgg ccggcctggg cgccgactgc agagccggga ggctggtggt
       61 catgccgggg ttcctggttc gcatcctccc tctgttgctg gttctgctgc ttctgggccc
      121 tacgcgcggc ttgcgcgtaa gtctgcggga cccgggtacg gggaggcatt gctaggggac
      181 aggctggcgg ggaaccgggc tggggtcgca gccacccgcg gtcccgcagg gcggggagcc
      241 tgagccccga agtgcccccc agcaggctcg cggccggcgg aacgcaggca gtggaccggc
      301 cttcccgtcg ggggcgggcc gggcggggcg cgcgtccttc caggcagctc ggtcgcttgt
      361 gcgttccgct ccggccgccc tttgcgcttg gatccacttc cccatctgta acgaggtgtt
      421 gagacgaggc ggagttgacc tggaaacctc tccttggcca ctgtcctttc taaggaactc
      481 atttccagag tccaccagca cagaactggt gggggagcct actaggagca gagaaaatgg
      541 ccatcttcag gcagctgtcc ctaggcgcga aggccaccct ggctgctgtc actgtcttcg
      601 tgtccatgat cgcctcccgc tcgtatctgg cagagagcct tgagctcagg gcctggcgtt
      661 ggctgcttcg cttgcagctt gccctgtttg tcaactcgct cttgctcatt ggctccctct
      721 acatttggcg cagcacagtg agcaacctct gccactcccc agctgcagag tcaacctgtt
      781 ttcagctttg gaaggtggtg gttctggcat ttctggccct ggcccattcc agtttcttta
      841 ccatgttctt tttagtggcc gaagagccct atctcttttc cttggcggcc tactcctgcc
      901 tgggtgctta catcatcatg ctcttcttcc tcttcatcct cagcggcatg gagcaggcct
      961 accagctctt ggcctggcgc agtggtaggg tcgtgggcag ccttgagaag acaaggaagc
     1021 tcgtgctcag gcctgccctg gcagtgggag tgactgctgt gctcagcgtg gccgggattc
     1081 tgaatgccgc gcagcccccg gctgtgaaaa ctgtggaggt gcccatccat cagctgcctg
     1141 cctcaatgaa caacctcaag atcgtgctcc tctcagacat tcacttgggc cccacagtgg
     1201 gcaggaccaa gatggaaatg tttgtgagga tggtgaatgt gctggaacca gacatcacgg
     1261 tgattgtggg tgacctctcc gactcagaag cctcggtcct gcggacggct gtcgctcctc
     1321 tgggccagct tcattcacat ctcggtgcct acttcgtcac aggcaatcat gagtactaca
     1381 cgtcagatgt cagcaactgg tttgcacttc tggaatccct gcatgtccag cctcttcata
     1441 atgagaacgt gaagatttcc gccacacggg cccaacgtgg tggtggtggc agtggcagtg
     1501 ggagtgagga tgaggactgg atctgcttgg ctggggtgga cgatattgaa gcagacatcc
     1561 tgcactactc tggccatggc atggatcttg acaaggccct ggagggctgc agcccagacc
     1621 acacaatcat cttgctagct caccagcccc tggctgccaa gagagctctc caggctcggc
     1681 cagatattaa cctgatcctt tctgggcaca cacatgctgg gcagatcttc cccttgaacg
     1741 tagcagccta tctcctgaat cccttctttg ctggtctcta ccaggtggcc caggctacat
     1801 tcgtgtatgt cagcccaggc acagcctact acgggatacc catgaggctg ggtagcaggg
     1861 ccgagatcac agagctcatc ctgcagcggt ctccctgaac tggccctgcc ctgtgcacct
     1921 ctgccctgcc cttgtcctcg accctccatc ctgcttcaga gtggtttgcc tgcttttccc
     1981 ctccagcctt gcccactcat ccttgcctac acacccttgg tcacaagcct gactcaaaca
     2041 gtgacttatg gtgggcctgc ctggcatgtt caggctggtt taactatttc cttggccagt
     2101 tgcttttttt gatgcacttg tgagatcact aaggtcacat atattagcac tcccctctat
     2161 tttccagatg atgtggaatg gggaccttct cctgcagagc tcccagggat gaacctcccc
     2221 tcggggttgc tagaaaggca tacctctaga aggtggggcg gggaggagca ggagcatttt
     2281 tctcctggtg ttttaaaatt gtctttagga cttaagtggt ttccagaatc attgatccag
     2341 agcctttctg gggaaggggt agtgttgcca ggtaatttgg gagaacaggc aagatggaag
     2401 ggccctctgg ctgctagaga agaatatttt cttttcctct gattctatca ggatcacctc
     2461 tattgagggc atcagcaaaa tctactggaa tgcaaagctc ctcctgttcc aggccttgag
     2521 ggatgctatt taactgtctg tgctcctggg cctttggggg caaggtcagg ggagaagaac
     2581 ggtgggcgcc atggtcggtg atggtgagaa catggctgct taggaattca gagggctttg
     2641 cctcccttgt ctcattttat acaacccttc ggggagctca ctggggacag gctgcttttc
     2701 cctatttgga gataaggaaa ccaaggcaaa gagagatagg gcacaggcag tatgacaaga
     2761 tatgtaggag atttggggct agaaaccagg tcttgtacct cccagtaaaa gcggtgcttt
     2821 tgcccttttg ccagaagcaa tagatccttt gatcctgaga tggagataag cacccgtgtt
     2881 agaaaaggcc tcactgagaa gacagggctg ggctggtttc ctgctgggtg atttaggctt
     2941 gtgatggaaa gtcttcctcc aatggggagt gaagacactc gctctgactg gagaggctaa
     3001 ccctgctgct cactcatagg gcagcgttgg gtgggtgact ttccctcact cagccttggt
     3061 ttccatcaac cctaaaatgg ggataattat cgtatctacc tcaagattgt tttgtcagga
     3121 gggatccatc aagccttgtg catgagttcc acatggcaca gcgtgcacag taaacactca
     3181 atgttaattt ttcaacgttc cagtggagct tgctaaggaa ctctgttggg cacaggtgcc
     3241 cagaggattc atggagcagc cagtcctggg gaatgtgagt gggtagcgag ctgcctgctg
     3301 ctggggcagg tgatgtgtca aagcagcaac tgctaggggt ttgccttcct tccctcatgt
     3361 gcattctggc aggcaaaggg ggtttcttcc tttcctcctt gtcctcctgg tgtatagtgg
     3421 ggttctgggg gatctggaga ccaccctttt tgttcccagg cagccacggt attgacagtg
     3481 ggccatacca tgcagtttaa aatgtatctt tgagttgaaa ttttggtggt ttccttattc
     3541 ttttttctct cttcactgtc cttccaaact cacttttctt gtgtcccgac cgcattttgt
     3601 gaatcatcct tactcccttt aagttctcgc tttggatttc accaggtggg ctagatggtg
     3661 ccatttcact tccactgttt gatgcggctg gtaatgtttg actcacctgt tacgtgttat
     3721 ttcactggtt tcttgatttt acatctttct catcagtgac ctgggcttga tgaaattagc
     3781 tttcattaag tcctattttt tttttaattt tgcatcctta cctcttttct ttctcttgaa
     3841 tgccatcatt gtgtggtctt atgtaccctt catccactct gaagtccttg cttgactgat
     3901 tgctttctat tagcagaaag aaaacaggtc catcctatgt atctgagaaa caacatcaac
     3961 accctctcgt atgtggtttg tattccctga cgcggcggac atttttgcag cagaaatttc
     4021 tccatcactg tccagattct ggccctggtg ggcaggtctc catgacacct ttagtccctt
     4081 tgttcaacat tcttaaacca tggacctttt tgtttgtttg tggccggggg aggtggtgag
     4141 aaacgttact tgaagcttga tcattctttc aatttcattt gtttctttat ttttaatctg
     4201 ttagatgcaa attgaaatgc aatgcttttt gaaaatcagc aatagtgtct gtagtatatg
     4261 atgctgtcac aaaatctcaa taaattgatc ctgctgccat tccttccaaa
//
LOCUS       NM_001039771            2476 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens cerebellin 3 precursor (CBLN3), mRNA.
ACCESSION   NM_001039771
VERSION     NM_001039771.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2476)
  AUTHORS   Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM,
            Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, Johansen
            CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, Ricketts SL, Bis
            JC, Aulchenko YS, Thorleifsson G, Feitosa MF, Chambers J,
            Orho-Melander M, Melander O, Johnson T, Li X, Guo X, Li M, Shin Cho
            Y, Jin Go M, Jin Kim Y, Lee JY, Park T, Kim K, Sim X, Twee-Hee Ong
            R, Croteau-Chonka DC, Lange LA, Smith JD, Song K, Hua Zhao J, Yuan
            X, Luan J, Lamina C, Ziegler A, Zhang W, Zee RY, Wright AF, Witteman
            JC, Wilson JF, Willemsen G, Wichmann HE, Whitfield JB, Waterworth
            DM, Wareham NJ, Waeber G, Vollenweider P, Voight BF, Vitart V,
            Uitterlinden AG, Uda M, Tuomilehto J, Thompson JR, Tanaka T, Surakka
            I, Stringham HM, Spector TD, Soranzo N, Smit JH, Sinisalo J,
            Silander K, Sijbrands EJ, Scuteri A, Scott J, Schlessinger D, Sanna
            S, Salomaa V, Saharinen J, Sabatti C, Ruokonen A, Rudan I, Rose LM,
            Roberts R, Rieder M, Psaty BM, Pramstaller PP, Pichler I, Perola M,
            Penninx BW, Pedersen NL, Pattaro C, Parker AN, Pare G, Oostra BA,
            O'Donnell CJ, Nieminen MS, Nickerson DA, Montgomery GW, Meitinger T,
            McPherson R, McCarthy MI, McArdle W, Masson D, Martin NG, Marroni F,
            Mangino M, Magnusson PK, Lucas G, Luben R, Loos RJ, Lokki ML, Lettre
            G, Langenberg C, Launer LJ, Lakatta EG, Laaksonen R, Kyvik KO,
            Kronenberg F, Konig IR, Khaw KT, Kaprio J, Kaplan LM, Johansson A,
            Jarvelin MR, Janssens AC, Ingelsson E, Igl W, Kees Hovingh G,
            Hottenga JJ, Hofman A, Hicks AA, Hengstenberg C, Heid IM, Hayward C,
            Havulinna AS, Hastie ND, Harris TB, Haritunians T, Hall AS,
            Gyllensten U, Guiducci C, Groop LC, Gonzalez E, Gieger C, Freimer
            NB, Ferrucci L, Erdmann J, Elliott P, Ejebe KG, Doring A, Dominiczak
            AF, Demissie S, Deloukas P, de Geus EJ, de Faire U, Crawford G,
            Collins FS, Chen YD, Caulfield MJ, Campbell H, Burtt NP, Bonnycastle
            LL, Boomsma DI, Boekholdt SM, Bergman RN, Barroso I, Bandinelli S,
            Ballantyne CM, Assimes TL, Quertermous T, Altshuler D, Seielstad M,
            Wong TY, Tai ES, Feranil AB, Kuzawa CW, Adair LS, Taylor HA Jr,
            Borecki IB, Gabriel SB, Wilson JG, Holm H, Thorsteinsdottir U,
            Gudnason V, Krauss RM, Mohlke KL, Ordovas JM, Munroe PB, Kooner JS,
            Tall AR, Hegele RA, Kastelein JJ, Schadt EE, Rotter JI, Boerwinkle
            E, Strachan DP, Mooser V, Stefansson K, Reilly MP, Samani NJ,
            Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, van Duijn
            CM, Peltonen L, Abecasis GR, Boehnke M and Kathiresan S.
  TITLE     Biological, clinical and population relevance of 95 loci for blood
            lipids
  JOURNAL   Nature 466 (7307), 707-713 (2010)
   PUBMED   20686565
REFERENCE   2  (bases 1 to 2476)
  AUTHORS   Bao D, Pang Z, Morgan MA, Parris J, Rong Y, Li L and Morgan JI.
  TITLE     Cbln1 is essential for interaction-dependent secretion of Cbln3
  JOURNAL   Mol Cell Biol 26 (24), 9327-9337 (2006)
   PUBMED   17030622
REFERENCE   3  (bases 1 to 2476)
  AUTHORS   Zhang Z and Henzel WJ.
  TITLE     Signal peptide prediction based on analysis of experimentally
            verified cleavage sites
  JOURNAL   Protein Sci 13 (10), 2819-2824 (2004)
   PUBMED   15340161
REFERENCE   4  (bases 1 to 2476)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   5  (bases 1 to 2476)
  AUTHORS   Pang Z, Zuo J and Morgan JI.
  TITLE     Cbln3, a novel member of the precerebellin family that binds
            specifically to Cbln1
  JOURNAL   J Neurosci 20 (17), 6333-6339 (2000)
   PUBMED   10964938
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1176661.1,
            SRR3476690.2973.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000267406.11/ ENSP00000267406.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL132800.4 and CD368047.1.
            On May 17, 2019 this sequence version replaced NM_001039771.2.
            Summary: Members of the precerebellin family, such as CBLN3,
            contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal
            C1q signature domain (see MIM 120550) that mediates trimeric
            assembly of atypical collagen complexes. However, precerebellins do
            not contain a collagen motif, suggesting that they are not
            conventional components of the extracellular matrix (Pang et al.,
            2000 [PubMed 10964938]).[supplied by OMIM, Aug 2009].
FEATURES             Location/Qualifiers
     source          1..2476
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     gene            1..2476
                     /gene="CBLN3"
                     /gene_synonym="PRO1486"
                     /note="cerebellin 3 precursor"
                     /db_xref="GeneID:643866"
                     /db_xref="HGNC:HGNC:20146"
                     /db_xref="MIM:612978"
     misc_feature    537..539
                     /gene="CBLN3"
                     /gene_synonym="PRO1486"
                     /note="upstream in-frame stop codon"
     CDS             615..1232
                     /gene="CBLN3"
                     /gene_synonym="PRO1486"
                     /note="cerebellin-3"
                     /codon_start=1
                     /product="cerebellin-3 precursor"
                     /protein_id="NP_001034860.1"
                     /db_xref="CCDS:CCDS32057.1"
                     /db_xref="GeneID:643866"
                     /db_xref="HGNC:HGNC:20146"
                     /db_xref="MIM:612978"
                     /translation="MLGAKPHWLPGPLHSPGLPLVLVLLALGAGWAQEGSEPVLLEGEC
                     LVVCEPGRAAAGGPGGAALGEAPPGRVAFAAVRSHHHEPAGETGNGTSGAIYFDQVLVN
                     EGGGFDRASGSFVAPVRGVYSFRFHVVKVYNRQTVQVSLMLNTWPVISAFANDPDVTRE
                     AATSSVLLPLDPGDRVSLRLRRGNLLGGWKYSSFSGFLIFPL"
     sig_peptide     615..710
                     /gene="CBLN3"
                     /gene_synonym="PRO1486"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    828..1229
                     /gene="CBLN3"
                     /gene_synonym="PRO1486"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UW01.1);
                     Region: Necessary for interaction with CBLN3, and
                     homotrimerization. /evidence=ECO:0000250"
     misc_feature    882..884
                     /gene="CBLN3"
                     /gene_synonym="PRO1486"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6UW01.1); glycosylation site"
     regulatory      2337..2342
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBLN3"
                     /gene_synonym="PRO1486"
                     /note="hexamer: AATAAA"
     polyA_site      2363
                     /gene="CBLN3"
                     /gene_synonym="PRO1486"
                     /note="major polyA site"
     regulatory      2451..2456
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBLN3"
                     /gene_synonym="PRO1486"
                     /note="hexamer: AATAAA"
     polyA_site      2476
                     /gene="CBLN3"
                     /gene_synonym="PRO1486"
ORIGIN
        1 gtgactggcc cactggtgct ctaggcccaa gcactttcca ccaaagcaat cgtggcggag
       61 ggggtaggcg ggaggcggga ggcggagggt acccgtggtg gagtacccct ttcttccaac
      121 aaacggaaag atgccacgaa gaagggctgt tgatttgtgg gggattttga agagaggaag
      181 agtaggagga aggggttgag gggctgcctc tggcatatgc acacactcac acattctgtc
      241 acacccgtca cacacacata ccatgttctc catcccccca ggtccagccc tcagtgctgt
      301 cccatccagc agggctgccc tgaagctctg gctgcagccc tcccgtccag tgggcaggcg
      361 gcttcatccc tcctttctct cccaaagccc aactgctgtc actgcatgct ctgccaagga
      421 ggagggaact gcagtgacag caggagtaag agtgggaggc aggacagagc tgggacacag
      481 gtatggagag ggggttcagc gagcctagag agggcagacg atcagggtgc cggcggtgag
      541 aatccaggga gaggagcgga aacagaagag gggcagaaga ccggggcact tgtgggttgc
      601 agagcccctc agccatgttg ggagccaagc cacactggct accaggtccc ctacacagtc
      661 ccgggctgcc cttggttctg gtgcttctgg ccctgggggc cgggtgggcc caggaggggt
      721 cagagcccgt cctgctggag ggggagtgcc tggtggtctg tgagcctggc cgagctgctg
      781 caggggggcc cgggggagca gccctgggag aggcaccccc tgggcgagtg gcatttgctg
      841 cggtccgaag ccaccaccat gagccagcag gggaaaccgg caatggcacc agtggggcca
      901 tctacttcga ccaggtcctg gtgaacgagg gcggtggctt tgaccgggcc tctggctcct
      961 tcgtagcccc tgtccggggt gtctacagct tccggttcca tgtggtgaag gtgtacaacc
     1021 gccaaactgt ccaggtgagc ctgatgctga acacgtggcc tgtcatctca gcctttgcca
     1081 atgatcctga cgtgacccgg gaggcagcca ccagctctgt gctactgccc ttggaccctg
     1141 gggaccgagt gtctctgcgc ctgcgtcggg ggaatctact gggtggttgg aaatactcaa
     1201 gtttctctgg cttcctcatc ttccctctct gaggacccaa gtctttcaag cacaagaatc
     1261 cagcccctga caactttctt ctgccctctc ttgccccaga aacagcagag gcaggagaga
     1321 gactccctct ggctcctatc ccacctcttt gcatgggacc ctgtgccaaa cacccaagtt
     1381 taagagaaga gtagagctgt ggcatctcca gaccaggcct ttccacccac ccacccccag
     1441 ttaccctccc agccacctgc tgcatctgtt cctgcctgca gccctaggat cagggcaagg
     1501 tttggcaaga aggaagatct gcactacttt gcggcctctg ctcctccggt tcccccaccc
     1561 cagcttcctg ctcaatgctg atcagggaca ggtggcgcag gtgagcctga caggccccca
     1621 caggagccca gatggacaag cctcagcgta ccctgcaggc ttcttcctgt gaggaaagcc
     1681 agcatcacgg atctcagcca gcaccgtcag aagctgaacc agcaccgtat gggctagggt
     1741 gggaggctca gccacaggca gaagggtggg aagggcctgg agtctgtggc tggtgaggaa
     1801 ggaaggaggg tgtattgtct agactgaaca tggtacacat tctgcatgta tagcagagca
     1861 gccagcaggt agcaatcctg gctgtccttc tatgctggat cccagatgga ctctggccct
     1921 tacctcccca cctgagatta gggtgagtgt gtttgctctg gctgagagca gagctgagag
     1981 caggtataca gagctggaag tggaccatgg aaaacatcga taaccatgca tcctcttgct
     2041 tggccacctc ctgaaactgc tccacctttg aagtttgaac tttagtccct ccacactctg
     2101 actgctgcct ccttcctccc agctctctca ctgagttatc ttcactgtac ctgttccagc
     2161 atatccccac tatctctctt tctcctgatc tgtgctgtct tattctcctc cttaggcttc
     2221 ctattacctg ggattccatg attcattcct tcagaccctc tcctgccagt atgctaaacc
     2281 ctccctctct ctttcttatc ccgctgtccc attggcccag cctggatgaa tctatcaata
     2341 aaacaactag agaatggtgg tcagtgagac actatagaat tactaaggag aagatgcctc
     2401 tggagtttgg atcgggtgtt acaggtacaa gtaggtatgt tgcagaggaa aataaatatc
     2461 aaactgtata ctaaaa
//
LOCUS       NM_001039775            5239 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens crystallin beta-gamma domain containing 2 (CRYBG2),
            mRNA.
ACCESSION   NM_001039775
VERSION     NM_001039775.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5239)
  AUTHORS   Zhou W, Zhang Y, Zhang S and Yang Z.
  TITLE     Absent in melanoma 1-like (AIM1L) serves as a novel candidate for
            overall survival in hepatocellular carcinoma
  JOURNAL   Bioengineered 12 (1), 2750-2762 (2021)
   PUBMED   34130591
  REMARK    GeneRIF: Absent in melanoma 1-like (AIM1L) serves as a novel
            candidate for overall survival in hepatocellular carcinoma.
REFERENCE   2  (bases 1 to 5239)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   3  (bases 1 to 5239)
  AUTHORS   Szafranski K, Schindler S, Taudien S, Hiller M, Huse K, Jahn N,
            Schreiber S, Backofen R and Platzer M.
  TITLE     Violating the splicing rules: TG dinucleotides function as
            alternative 3' splice sites in U2-dependent introns
  JOURNAL   Genome Biol 8 (8), R154 (2007)
   PUBMED   17672918
  REMARK    GeneRIF: The apparent occurrence of an unusual TG 3' splice site in
            intron 2 is critically discussed.
REFERENCE   4  (bases 1 to 5239)
  AUTHORS   Fu GK, Wang JT, Yang J, Au-Young J and Stuve LL.
  TITLE     Circular rapid amplification of cDNA ends for high-throughput
            extension cloning of partial genes
  JOURNAL   Genomics 84 (1), 205-210 (2004)
   PUBMED   15203218
REFERENCE   5  (bases 1 to 5239)
  AUTHORS   Teichmann U, Ray ME, Ellison J, Graham C, Wistow G, Meltzer PS,
            Trent JM and Pavan WJ.
  TITLE     Cloning and tissue expression of the mouse ortholog of AIM1, a
            betagamma-crystallin superfamily member
  JOURNAL   Mamm Genome 9 (9), 715-720 (1998)
   PUBMED   9716656
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR11853560.596.1,
            SRR18074969.2893412.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000308182.10/ ENSP00000310435.6
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK000902.1, DA439029.1, CD628851.1, DA456217.1, AL451139.40,
            DR004727.1 and AK095339.1.
            On Aug 14, 2020 this sequence version replaced NM_001039775.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The full-length transcript structure is
            predicted based on partial human and full-length homologous
            transcript alignments from cow GeneID:507142 and mouse
            GeneID:230806.
FEATURES             Location/Qualifiers
     source          1..5239
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..5239
                     /gene="CRYBG2"
                     /gene_synonym="AIM1L"
                     /note="crystallin beta-gamma domain containing 2"
                     /db_xref="GeneID:55057"
                     /db_xref="HGNC:HGNC:17295"
                     /db_xref="MIM:619765"
     misc_feature    91..93
                     /gene="CRYBG2"
                     /gene_synonym="AIM1L"
                     /note="upstream in-frame stop codon"
     CDS             151..5136
                     /gene="CRYBG2"
                     /gene_synonym="AIM1L"
                     /note="beta-gamma crystallin domain containing 2; absent in
                     melanoma 1-like protein; absent in melanoma 1 like"
                     /codon_start=1
                     /product="beta/gamma crystallin domain-containing protein
                     2"
                     /protein_id="NP_001034864.2"
                     /db_xref="GeneID:55057"
                     /db_xref="HGNC:HGNC:17295"
                     /db_xref="MIM:619765"
                     /translation="MEEAGGPMARAKARVVSATLTWRQRPPTQEEIKHGFHKVSLVSGA
                     QMEAPQKEMFEFSRREEVEVNGFATQEEETVNCQGPRDTAGSKNFQSHGPIFSKKYIPP
                     PKEKRPEGRLKEAVDQSDGSRQAPRTEPPCVGAMARTELLVPLPGPREPSPHPGVGLTS
                     GSSRSLEEYRVTRTVRTTTVVGGHVDRRMSSSVTVRPVSSGEALPRGRQVSRMVPPVVV
                     GSPPGSPSRSQAVKVLSNLVPAGHSPPASHLPRPTAGGPRSTGLGSTVGAALRQLPETG
                     TAELKDSSALASTGIPASAHLPKNQDAPAACPDRDQGRAPDARACELWQVLGAPSSTEL
                     PLQTSQGQASVPSSPRLETHVPSPGLTHPAKQPVVPTHPGARLTPLVLPPKKKDGPVDP
                     PAATVLPMVRSEHVTVPGQPPAPSTTRRKDVPSPGGLSAPSSPRNKFVQNSENVPVLPF
                     TQREVVKGPGAPAASSPTRKEVVQGSSASAASSPTWKEVVKGPGAPAASSPTQKEVVQG
                     SSAPAALFPTWKEVVKGPGAPDASFPTWKEVVKGPGAPAASSPTQKEVVQGSGAPAALS
                     TTPKEVVKGPGAPAASSPTQKEVVKGPCAPAASSPTQKEVVQGSGAPAALSPKSTEVVQ
                     GPKGSSSIQKEAVQGIAGSLAPPLTKEETVQGPIAPATSLPKQDKGVQDSEGSPISSLT
                     QKEVVQDPDALPAPSSSVDRVSPSPGGTPAPVPTGAEASTESQLVSDPTEGKTCTETSR
                     EEDEVALAADLEIFLDTLRSMEPPEILRTHRLPRAPRSSYLSMYATLPAIEEDQLGPWV
                     LGPGPQEVPSLEEKEEEEEEEPENPYLSDDEKLQRRQEKAGPSPSRDLHPARPTQVSCS
                     PLEMMKKHVAGTKGPHSELGLELQGGSRPTSRLGGSLLFGSLVPTAKEASTPEPLGTKL
                     SALLPHGAPGLRKVPGQLPLLCSERSSPTEKLACSLPLEGWSPALKTQGKLNTRPGKVI
                     FFSESGCQGSGREVWGDIVDASGWAPVASIRVVRGCWVLYEEPEFRGQKLVLPEGDMEL
                     RTPGTKWSPQGIGSLRRVVWDYSTPEISLFSEEGLKGEQVKLTEALKNSQGLEKPLQVA
                     SATVSAGLWLLYPKPLFEDTPYILEPGEYPTSEAWGTSDPSVGSLKPMRLGCPSVEKPG
                     EPRAVVYEAPGFQGRSWEVSRDIYNLQQPEDSQSPHLASVGSLRVLGGCWVGYEKEGFR
                     GHQYLLEEGEYPDWSHWGGYDELLTSLRVIRTDFGDPAVVLFEAMDFEGHGVEVSKALP
                     DVELVQHGPSTQAIHVLSGVWVAYQEVGFSGEQYVLEKGVYRNCEDWGAGNSTLASLQP
                     VLQVGEHDLHFVSKIQLFSRPDFLGDHFSFEDDQAALPASFRPQSCRVHGGSWILFDET
                     NFEGDQHILSEGEFPTLTAMGCLASTVLGSLQKVSLHFSEPSIFLYGLECFEGKEIELS
                     REVRSLQAEGFNNHVLSVRIKGGIWVLCEHSDFRGRQWLVGSCEITNWLTYSGTQRVGS
                     LYPIKQRRVYFRLWNAALGGFLAVPDHVEDMKAGRVVVADPQAGGSCIWYYEDGLLKNQ
                     MAPTMSLQVIGPPSPGSKVVLWAESRLPRQTWSISESGHICSQMFEGQILDVKGGRGYD
                     RDHVVLWEPDEDRASQIWTIHVL"
     misc_feature    364..555
                     /gene="CRYBG2"
                     /gene_synonym="AIM1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N1P7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    592..654
                     /gene="CRYBG2"
                     /gene_synonym="AIM1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N1P7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    874..954
                     /gene="CRYBG2"
                     /gene_synonym="AIM1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N1P7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1039..1113
                     /gene="CRYBG2"
                     /gene_synonym="AIM1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N1P7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1159..1290
                     /gene="CRYBG2"
                     /gene_synonym="AIM1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N1P7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1381..2421
                     /gene="CRYBG2"
                     /gene_synonym="AIM1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N1P7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2572..2763
                     /gene="CRYBG2"
                     /gene_synonym="AIM1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N1P7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2797..2859
                     /gene="CRYBG2"
                     /gene_synonym="AIM1L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N1P7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     polyA_site      5239
                     /gene="CRYBG2"
                     /gene_synonym="AIM1L"
                     /note="major polyA site"
ORIGIN
        1 agctgagagc ccaatcgcat caggggagca cggcccagca gcaggagctc caggctggct
       61 ggacacctgg gtccccacgc agactgtgag tagagggagc tggaccacag tgggacaagg
      121 acacctccag acaggttgcc agggccccac atggaggagg caggtgggcc catggcccgg
      181 gccaaggccc gagtggtaag tgccacattg acatggcggc agcggccccc cacccaggaa
      241 gagatcaaac atggttttca caaggtgtcc ctggtgtcag gggcccagat ggaagccccg
      301 cagaaggaga tgtttgagtt cagccgtcga gaggaagtgg aagtcaatgg ctttgcaaca
      361 caggaagaag agactgtgaa ttgccagggc cctcgggata cagctggctc caagaacttc
      421 cagagccatg gacccatctt ttccaagaag tacataccac ctcccaagga gaaaaggcct
      481 gaggggaggc tgaaggaggc tgtggaccag agtgatggca gccgccaagc tcccaggact
      541 gagcccccat gtgtgggagc tatggccagg actgagcttt tggttcccct gcctgggccc
      601 cgagagccaa gtccccaccc aggtgtaggt ctcaccagtg gtagctcccg gagcctcgag
      661 gaataccgag tgacacgcac tgtgcggacc accacagtgg tgggaggtca tgtggaccgg
      721 cggatgagca gctctgtgac tgtgaggcca gtgtcctcag gcgaggccct gccacggggc
      781 cgtcaggtct cccgcatggt gccgccagtg gtggtgggct ccccaccagg ctcgcccagc
      841 cgcagccagg ccgtgaaagt gctaagtaac ctcgtgcctg ctgggcacag cccccctgcc
      901 agtcacctgc ccaggcccac ggctggcggg ccaaggagca caggtctggg cagcacagtg
      961 ggggcagcct tgaggcagct gcctgagacc gggacagcag agcttaaaga cagctctgcc
     1021 ctggcctcta caggcatccc agccagtgct cacctgccta agaatcagga tgcccctgca
     1081 gcctgtccgg acagagacca gggcagagcc ccggatgcca gggcctgtga gctctggcag
     1141 gtgctgggag cccccagttc cactgagctc cctctccaga cttctcaggg tcaagcatca
     1201 gtcccctcct ctcccagact cgagacccat gtcccctctc ctggcctaac tcaccctgca
     1261 aagcagcctg tggtgcccac tcaccccggg gcccggctca ctccccttgt tctgccccct
     1321 aaaaaaaagg acgggcccgt ggacccccct gctgccaccg tcctgcccat ggtgaggagc
     1381 gagcatgtga cagtccctgg acaacctcct gctccatcca ctacaagaag gaaggatgtc
     1441 cccagcccag gaggtctttc tgctccatcg tccccaagga ataagtttgt tcagaactct
     1501 gaaaatgtcc ctgtcctccc ctttacccag agggaggtcg tgaagggccc cggtgctcct
     1561 gctgcctcat ctcccacccg gaaggaggtg gtgcaggggt ccagtgcttc tgctgcctcg
     1621 tcccccacct ggaaagaggt cgtgaagggc cctggtgctc ctgctgcctc atctcccacc
     1681 cagaaggagg tggtgcaggg gtccagtgct cctgctgcct tgttccccac ctggaaagag
     1741 gtcgtgaagg gccccggtgc tcctgatgcc tcatttccca cctggaaaga ggttgtgaag
     1801 ggccctggtg ctcctgctgc ctcatccccc acccagaagg aggtggtgca ggggtctggt
     1861 gctcctgctg ccttgtccac caccccaaaa gaggttgtga agggccctgg tgctcctgct
     1921 gcctcatcgc ccacccagaa agaggttgtg aagggcccct gtgctcctgc tgcctcatct
     1981 cccacccaga aggaggtggt gcaggggtct ggtgctcctg ctgccttgtc ccccaagtca
     2041 actgaggttg tccagggccc aaaaggcagc agtagcatcc aaaaagaggc tgtccagggt
     2101 attgcaggca gccttgcccc gcccctcacc aaggaagaga ctgttcaagg cccaattgct
     2161 cctgccacct cactccccaa acaggataag ggggtccagg actctgaagg gagccccatc
     2221 tcatctctca cccagaaaga ggttgtgcag gaccctgatg ctctccctgc cccatcttcc
     2281 tcagtggaca gggtgtcccc cagcccagga ggcacccctg ccccagtgcc aacaggagca
     2341 gaggccagca cggagtccca gcttgtctct gatcccaccg agggcaagac gtgcacagag
     2401 acatcaaggg aggaggatga ggtggccctg gccgctgacc tggagatatt cctggatacg
     2461 ctgcggagca tggagccccc tgagatcctc cgcactcacc ggctgccacg agcccctcgc
     2521 tcctcctacc tgtccatgta cgccacgctg cctgccattg aggaggacca gctggggcca
     2581 tgggtgctgg gccccggacc ccaggaggtg ccttcactgg aagagaaaga ggaggaggag
     2641 gaggaggaac cagagaaccc ctatctgagt gacgatgaga agctccagcg caggcaggag
     2701 aaagctgggc ccagcccctc cagggacctc caccctgcca gacccaccca ggtctcctgc
     2761 tctcctctgg agatgatgaa gaagcatgta gcaggaacca agggccccca ctcagagctg
     2821 ggattggaac tgcagggagg cagcaggccc acttcccgtc ttggaggcag ccttctgttc
     2881 ggcagtctgg tgcctaccgc caaggaggcc tccaccccgg aaccgctggg cacaaaacta
     2941 tctgctctgc tgccccatgg ggcaccgggg ctcaggaagg tgccaggaca gttgcccctg
     3001 ctttgcagtg aaagatcatc cccaacggag aagcttgcct gttccctgcc cctggagggg
     3061 tggagcccag ccttaaagac ccagggcaag ctgaacacca ggcctggaaa ggtgatcttc
     3121 ttctcagagt ctggctgcca aggcagtggc agggaggtct ggggagacat cgttgatgcc
     3181 tcaggctggg cccccgtagc ctccataagg gtagttcgag gctgctgggt gctgtacgaa
     3241 gagccagagt tccggggtca gaagctggtc ctgcctgaag gagacatgga actcagaacc
     3301 ccagggacaa agtggagtcc ccaaggcatc ggctccctaa ggagggttgt ctgggactac
     3361 agcaccccgg aaatcagcct cttctctgag gagggcctca agggggagca agtgaagcta
     3421 acagaggcct tgaagaattc ccagggtctg gagaagcccc tgcaggtggc atctgccacc
     3481 gtctctgcag gactgtggct actgtacccc aaaccattat tcgaagacac tccctacatc
     3541 ctggaacctg gagagtaccc cacctcagag gcctggggca catcggaccc cagcgtgggc
     3601 tccctgaagc ccatgagatt gggctgccca agtgtggaga agccagggga gcccagggct
     3661 gtggtgtatg aggccccagg ctttcagggc cgcagctggg aagtgagccg agacatctac
     3721 aaccttcagc agccagagga cagccagagc ccccacctgg cctctgtggg gtccctgaga
     3781 gttctcggag gctgctgggt gggctacgag aaggagggct tccggggcca ccagtatctg
     3841 ctggaggagg gggaataccc agactggtca cactggggag gctatgacga gttgctgacc
     3901 tccctccggg tcatccggac ggacttcggg gacccggccg tcgtgctatt tgaggccatg
     3961 gacttcgagg ggcacggcgt ggaggtgagc aaggcattgc cggatgtgga gctggtgcaa
     4021 cacggcccca gcacacaggc catccacgtg ctcagcggcg tgtgggtggc ctaccaggag
     4081 gtgggcttct ccggggaaca gtacgtgctg gagaagggcg tgtatcgtaa ctgcgaggac
     4141 tggggcgctg gcaacagcac cctcgcctcg ctgcagccgg tcctacaggt cggggagcac
     4201 gatctgcact tcgtctcaaa gattcagctt ttctcccgcc ccgactttct gggcgaccac
     4261 ttctctttcg aagatgacca ggccgctctg cccgcctcct tccgacctca gtcctgccgg
     4321 gtccacggcg gcagctggat cctgtttgat gagacgaact tcgagggtga ccagcacatt
     4381 ctctctgagg gcgagttccc cactctcacg gccatgggct gcctcgcctc cacagtcctg
     4441 ggctctctcc agaaggtatc cctgcacttt tcagagcctt ccattttcct gtatggactc
     4501 gagtgcttcg aggggaagga gatcgagctc agcagggagg tgcggagcct gcaagccgag
     4561 ggcttcaaca accatgtgct gtctgtgcgg atcaaggggg gcatttgggt gctatgtgaa
     4621 cacagtgact tccggggccg ccagtggctg gtgggaagct gcgagatcac caactggctg
     4681 acctacagcg gcacccagag ggtgggctcc ctctacccca tcaagcagcg ccgggtttat
     4741 ttccgcctct ggaatgcagc actgggggga ttcctggcag tgccggacca tgtggaggac
     4801 atgaaagcag gccgtgtggt ggtcgccgac ccccaagctg gaggtagctg catctggtac
     4861 tacgaggatg ggctgctgaa gaaccagatg gcccccacca tgagcctaca ggtgattgga
     4921 ccccctagcc caggctccaa ggtggtgctg tgggccgaga gccgcctgcc gcgccagacg
     4981 tggagcatca gtgaatcggg ccacatctgc agccagatgt tcgaaggcca gatcctggac
     5041 gtgaagggag gccggggcta cgaccgggac cacgtggtgc tatgggagcc ggatgaggac
     5101 agggcatccc agatctggac tatccacgtg ctttgaaact tttcccctca ccctccagcc
     5161 ctggaggctt ttgctgggat gaatgttttt atagggtttt tgttgtaaca taagctattt
     5221 tctaatatgc tgccaggta
//
LOCUS       NM_001039780            2613 bp    mRNA    linear   PRI 14-JUN-2023
DEFINITION  Homo sapiens cyclin I family member 2 (CCNI2), transcript variant 2,
            mRNA.
ACCESSION   NM_001039780
VERSION     NM_001039780.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2613)
  AUTHORS   Lai DM, Bi JJ, Chen YH, Wu YD, Huang QW, Li HJ, Zhang S, Fu Z and
            Tong YX.
  TITLE     CCNI2 plays a promoting role in the progression of colorectal cancer
  JOURNAL   Cancer Med 10 (6), 1913-1924 (2021)
   PUBMED   33620152
  REMARK    GeneRIF: CCNI2 plays a promoting role in the progression of
            colorectal cancer.
REFERENCE   2  (bases 1 to 2613)
  AUTHORS   Liu C, Zhai X, Zhao B, Wang Y and Xu Z.
  TITLE     Cyclin I-like (CCNI2) is a cyclin-dependent kinase 5 (CDK5)
            activator and is involved in cell cycle regulation
  JOURNAL   Sci Rep 7, 40979 (2017)
   PUBMED   28112194
  REMARK    GeneRIF: Here the authors show that cyclin I-like (CCNI2), a homolog
            of CCNI, interacts with CDK5 and activates the kinase activity of
            CDK5. Different from CCNI, which colocalizes with CDK5 in the nuclei
            in transfected cells, CCNI2 mainly retains CDK5 in the cytoplasm as
            well as on the cell membrane. Erratum:[Sci Rep. 2017 Mar 15;7:44164.
            PMID: 28294125] Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2613)
  AUTHORS   Taneera J, Fadista J, Ahlqvist E, Zhang M, Wierup N, Renstrom E and
            Groop L.
  TITLE     Expression profiling of cell cycle genes in human pancreatic islets
            with and without type 2 diabetes
  JOURNAL   Mol Cell Endocrinol 375 (1-2), 35-42 (2013)
   PUBMED   23707792
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK131553.1, BC136836.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142348,
            SAMEA2142586 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378731.6/ ENSP00000368005.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004775.1, AK131553.1 and AW131382.1.
            On Jun 2, 2019 this sequence version replaced NM_001039780.3.
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 1. The
            encoded isoform (isoform 2) is shorter than isoform 1.
FEATURES             Location/Qualifiers
     source          1..2613
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..2613
                     /gene="CCNI2"
                     /note="cyclin I family member 2"
                     /db_xref="GeneID:645121"
                     /db_xref="HGNC:HGNC:33869"
                     /db_xref="MIM:620419"
     misc_feature    35..37
                     /gene="CCNI2"
                     /note="upstream in-frame stop codon"
     CDS             71..1180
                     /gene="CCNI2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     cyclin-I2"
                     /codon_start=1
                     /product="cyclin-I2 isoform 2"
                     /protein_id="NP_001034869.1"
                     /db_xref="CCDS:CCDS34236.1"
                     /db_xref="GeneID:645121"
                     /db_xref="HGNC:HGNC:33869"
                     /db_xref="MIM:620419"
                     /translation="MASGAQLPPQPSSSEVSAVQSPGGRPGAGLEETALGVPLPPSPGE
                     APLPRSNRSRCPGTRQPGAASLHAASAAVPVRPRRGTAPAGKTADAVPAAAPEQAPRPA
                     PQSRKPRNLEGDLDERRLLCHLQLAQDREARLWRGGKPQDEICDAFEEVVLWLLRLQNT
                     FYFSQSTFNLALTIFGRLLISVKVKEKYLHCATITSLRLAAKVNEEEEFIPQVKDFTKH
                     YGSDYSPNELLRMELAILDRLHWDLYIGTPLDFLTIFHALVVLSWPHVLELLPQRNPSL
                     HVASLTRQLQHCMAGHQLLQFKGSTLALVIITLELERLMPGWCAPISDLLKKAQVGDMQ
                     YSCCKELVMQQLRSLQSSSCTDNFVSPAN"
     misc_feature    71..418
                     /gene="CCNI2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZMN8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2354..2359
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCNI2"
                     /note="hexamer: ATTACA"
     polyA_site      2375
                     /gene="CCNI2"
                     /note="major polyA site"
ORIGIN
        1 agtgttccgg gagctgggtt ataaaatgcc gggttaagcg gcaactcaga ctcaggatcc
       61 cgctcacgac atggcctcgg gcgctcagct cccgccgcag ccgtcgagct cagaggtcag
      121 cgccgtccag agcccaggcg ggcgtcccgg cgccggtctg gaggaaacag ccctgggcgt
      181 tcctctcccg ccgtctccgg gggaggcccc tctgccccga agcaaccgga gcaggtgccc
      241 tgggacccgc cagcccggag cggcctccct ccacgcggcg tccgcagcag tccccgtgcg
      301 gccccggcgc ggtacggcgc cagccgggaa aaccgcagac gcggtccccg ccgccgcccc
      361 agagcaagct ccgcggccgg ctccacagtc ccgcaagccg cgcaacctgg aaggcgacct
      421 ggacgagcgc cggctgctct gccacttgca gctggcccag gaccgcgagg cgcgcctgtg
      481 gcggggcggc aaaccccagg atgaaatctg cgacgccttc gaggaagtcg tgctgtggct
      541 cctgcggctt cagaacacct tttacttctc ccagtccact tttaacctgg ccctcaccat
      601 ctttggccgc ctcctgattt cagtgaaggt aaaagagaaa tacctgcatt gcgccacaat
      661 tacttccttg aggctcgctg caaaagttaa tgaagaagag gagtttattc cacaagtaaa
      721 agacttcaca aagcactatg gctctgacta ttccccgaat gagctgctga ggatggagct
      781 ggctattctg gacagactgc actgggacct ctatattggg acgccgctgg acttcttgac
      841 tatattccat gccctggtgg tcctgagctg gccccatgtg ttggagctgc tgcctcagag
      901 gaatccttcc ctccacgtcg catccctgac caggcagctg cagcactgta tggcgggcca
      961 ccagctgctg cagttcaagg gctccacact ggccttggtc atcatcacct tagagctgga
     1021 gaggctcatg cccggctggt gtgctcctat atctgatctg ctaaagaaag cacaggttgg
     1081 tgatatgcag tacagctgct gcaaggaact tgtaatgcag caactgagaa gtcttcagtc
     1141 atcctcctgc acagacaact ttgtgtcacc tgccaactag cccctctgcc tccaccccgg
     1201 ggctttcaga gcatagtgtg aaacctcctt gcttggacta ccatgagttc tttggcttgt
     1261 tatgaatcct gtaaaaaggg aaggtggctc tggaagagca actgagaaaa agttcccaac
     1321 tgagcccttg gaaaaaaaat aaaggggaga ggggaaaggc aggctgaggt cagtagaggt
     1381 cagggtggtc tgatagacta tgaccctgtc ttcccttttt ctcctctggg cctgaagcca
     1441 gggagtatga atgaatgttc aaatggcagc ttgttttacc ttccttctcc agcaagggtt
     1501 ggcattggcc cctgggagcg ctggaatatg aaaccaagag gcaggcctgg ctcagggctg
     1561 aagggctggg gctagctctg accagttctt gctgctctac ctgccagagc tggccaggtc
     1621 cttccaactt cccaggctta tcccaaacac atatgtggtg cttccagtcc caactaccct
     1681 gcctgccact cctcacatgg gacagtctct gcagatgcat ttacccaacc atggctatga
     1741 cttatgtctt ccctttacaa ggactggatt ataaagtatg ctttgtttaa tgtaacttga
     1801 gcaagcttta ggcatatctt tcctttgtta ctcttaagca aagtggtttc agttattagt
     1861 ttaactagag ggattttgtg ctaatgaatg ggtattatag gctaacacct gtgatgggag
     1921 gcacagctct gaatgctttc tgttgggatg agcaggttct gaggccaagc ctgctccaac
     1981 cacagtgctg ccaggaggag gagccggctg cctctctcat gctgtgctac cacagagcca
     2041 ttctctaagc aggggagtgc agctgacaaa gatgccagct ggggctgtgt aagttgtgtt
     2101 gggggcatga atgactgagc cacacattca gaggtggttt gtgaagtctt ccactgtgaa
     2161 ctatggtttt tttttttttt tttttttttt ggtgtgtttg tgtaaatgtg ctaagccatg
     2221 gggtgggagg ggaaagattt actaggtgca aagtggtcaa gggccagata tactataatt
     2281 gtctatatta tagagttagt atacatctgt attttttctt gacacacttt tgcttgttgg
     2341 tgctttcgtt aaaattacac tttaattgct tccgatcctg tatgagtctt attttgagct
     2401 accatgcatt tagccttgcg agagtcagat acatttggaa cactatctcc taggtcatat
     2461 caagaactct cctctagtcc agaacccatt ttacagatgg agatgctgag gccatgctgc
     2521 tcacagcttc cagtggtggc cgttgagtgc cctctgcctc cttccttcca gtgtaagtgg
     2581 gaccacagtg catgaggcag aaggacatcc tga
//
LOCUS       NM_001039792             935 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA.
ACCESSION   NM_001039792
VERSION     NM_001039792.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 935)
  AUTHORS   Hou F, Shi DB, Guo XY, Zhao RN, Zhang H, Ma RR, He JY and Gao P.
  TITLE     HRCT1, negatively regulated by miR-124-3p, promotes tumor metastasis
            and the growth of gastric cancer by activating the ERBB2-MAPK
            pathway
  JOURNAL   Gastric Cancer 26 (2), 250-263 (2023)
   PUBMED   36602696
  REMARK    GeneRIF: HRCT1, negatively regulated by miR-124-3p, promotes tumor
            metastasis and the growth of gastric cancer by activating the
            ERBB2-MAPK pathway.
REFERENCE   2  (bases 1 to 935)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AY358408.1, ERR279842.1349.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000354323.3/ ENSP00000346283.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY358408.1.
            On Nov 22, 2018 this sequence version replaced NM_001039792.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..935
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..935
                     /gene="HRCT1"
                     /gene_synonym="LGLL338; PRO537; UNQ338"
                     /note="histidine rich carboxyl terminus 1"
                     /db_xref="GeneID:646962"
                     /db_xref="HGNC:HGNC:33872"
     misc_feature    30..32
                     /gene="HRCT1"
                     /gene_synonym="LGLL338; PRO537; UNQ338"
                     /note="upstream in-frame stop codon"
     CDS             87..434
                     /gene="HRCT1"
                     /gene_synonym="LGLL338; PRO537; UNQ338"
                     /codon_start=1
                     /product="histidine-rich carboxyl terminus protein 1"
                     /protein_id="NP_001034881.1"
                     /db_xref="CCDS:CCDS35012.1"
                     /db_xref="GeneID:646962"
                     /db_xref="HGNC:HGNC:33872"
                     /translation="MLGLLGSTALVGWITGAAVAVLLLLLLLATCLFHGRQDCDVERNR
                     TAAGGNRVRRAQPWPFRRRGHLGIFHHHRHPGHVSHVPNVGLHHHHHPRHTPHHLHHHH
                     HPHRHHPRHAR"
     misc_feature    111..173
                     /gene="HRCT1"
                     /gene_synonym="LGLL338; PRO537; UNQ338"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UXD1.1);
                     transmembrane region"
     misc_feature    342..431
                     /gene="HRCT1"
                     /gene_synonym="LGLL338; PRO537; UNQ338"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UXD1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      918..923
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HRCT1"
                     /gene_synonym="LGLL338; PRO537; UNQ338"
                     /note="hexamer: AATAAA"
     polyA_site      935
                     /gene="HRCT1"
                     /gene_synonym="LGLL338; PRO537; UNQ338"
                     /note="major polyA site"
ORIGIN
        1 agtgactgag agggctgagc ggaggctgct gaaggggaga aaggagtgag gagctgctgg
       61 gcagagaggg actgtccggc tcccagatgc tgggcctcct ggggagcaca gccctcgtgg
      121 gatggatcac aggtgctgct gtggcggtcc tgctgctgct gctgctgctg gccacctgcc
      181 ttttccacgg acggcaggac tgtgacgtgg agaggaaccg tacagctgca gggggaaacc
      241 gagtccgccg ggcccagcct tggcccttcc ggcggcgggg ccacctggga atctttcacc
      301 atcaccgtca tcctggccac gtatctcatg tgccgaatgt gggcctccac caccaccacc
      361 acccccgcca cacccctcac cacctccacc accaccacca cccccaccgc caccatcccc
      421 gccacgctcg ctgaggctgc tgtcgccggt gcctgtggac agcagctgcc cctgccctcc
      481 catctgttcc caggacaagt ggaccccatg tttccatgtg gaaggatgca tctctggggt
      541 gaacgagggg aacaatagac tggggcttgc tccagctgca tttgcatggc atgccccagt
      601 gtactatggc agcagagaat ggaggaacac tgggtctgca gtgctgaagg gtttggggag
      661 tggagagcaa gggtgctctt tcggggctgg acagcccgtc ttgtgacagt gactcccagt
      721 gagccccaga aatgacaagc gtgtcttggc agagccagca cacaagtgga tgtgaagtgc
      781 ccgtcttgac ctcctcatca ggctgctgca ggcctctggc gggcagggca ctgggagagg
      841 ccctgagaat gtccttttgg tttggagaag gcagtgtgag gctgcacagt caattcatcg
      901 gtgccttagt ccaagaaaat aaaaaccact aagaa
//
LOCUS       NM_001039803            2149 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens cyclin dependent kinase 20 (CDK20), transcript variant
            3, mRNA.
ACCESSION   NM_001039803
VERSION     NM_001039803.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2149)
  AUTHORS   Chivukula S and Malkhed V.
  TITLE     The Role of CDK20 Protein in Carcinogenesis
  JOURNAL   Curr Drug Targets 24 (10), 790-796 (2023)
   PUBMED   37469151
  REMARK    GeneRIF: The Role of CDK20 Protein in Carcinogenesis. Review article
REFERENCE   2  (bases 1 to 2149)
  AUTHORS   Satoda Y, Noguchi T, Fujii T, Taniguchi A, Katoh Y and Nakayama K.
  TITLE     BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36
            contributes to intraflagellar transport turnaround involving
            ICK/CILK1
  JOURNAL   Mol Biol Cell 33 (9), ar79 (2022)
   PUBMED   35609210
  REMARK    GeneRIF: BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36
            contributes to intraflagellar transport turnaround involving
            ICK/CILK1.
REFERENCE   3  (bases 1 to 2149)
  AUTHORS   Zhou J, Liu M, Sun H, Feng Y, Xu L, Chan AWH, Tong JH, Wong J, Chong
            CCN, Lai PBS, Wang HK, Tsang SW, Goodwin T, Liu R, Huang L, Chen Z,
            Sung JJ, Chow KL, To KF and Cheng AS.
  TITLE     Hepatoma-intrinsic CCRK inhibition diminishes myeloid-derived
            suppressor cell immunosuppression and enhances immune-checkpoint
            blockade efficacy
  JOURNAL   Gut 67 (5), 931-944 (2018)
   PUBMED   28939663
  REMARK    GeneRIF: Results delineate an immunosuppressive mechanism of the
            hepatoma-intrinsic CCRK signalling and highlight an overexpressed
            kinase target whose inhibition might empower hepatocellular
            carcinoma immunotherapy
REFERENCE   4  (bases 1 to 2149)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE,
            Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker SA,
            Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G,
            Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   5  (bases 1 to 2149)
  AUTHORS   Feng H, Yu Z, Tian Y, Lee YY, Li MS, Go MY, Cheung YS, Lai PB, Chan
            AM, To KF, Chan HL, Sung JJ and Cheng AS.
  TITLE     A CCRK-EZH2 epigenetic circuitry drives hepatocarcinogenesis and
            associates with tumor recurrence and poor survival of patients
  JOURNAL   J Hepatol 62 (5), 1100-1111 (2015)
   PUBMED   25500144
  REMARK    GeneRIF: A CCRK-EZH2 epigenetic circuitry drives
            hepatocarcinogenesis and associates with tumor recurrence and poor
            survival of patient.
REFERENCE   6  (bases 1 to 2149)
  AUTHORS   Wu GQ, Xie D, Yang GF, Liao YJ, Mai SJ, Deng HX, Sze J, Guan XY,
            Zeng YX, Lin MC and Kung HF.
  TITLE     Cell cycle-related kinase supports ovarian carcinoma cell
            proliferation via regulation of cyclin D1 and is a predictor of
            outcome in patients with ovarian carcinoma
  JOURNAL   Int J Cancer 125 (11), 2631-2642 (2009)
   PUBMED   19672860
  REMARK    GeneRIF: Overexpression of CCRK is associated with ovarian
            carcinoma.
REFERENCE   7  (bases 1 to 2149)
  AUTHORS   Malumbres,M., Harlow,E., Hunt,T., Hunter,T., Lahti,J.M., Manning,G.,
            Morgan,D.O., Tsai,L.H. and Wolgemuth,D.J.
  TITLE     Cyclin-dependent kinases: a family portrait
  JOURNAL   Nat Cell Biol 11 (11), 1275-1276 (2009)
   PUBMED   19884882
REFERENCE   8  (bases 1 to 2149)
  AUTHORS   Qiu H, Dai H, Jain K, Shah R, Hong C, Pain J, Tian B, Vatner DE,
            Vatner SF and Depre C.
  TITLE     Characterization of a novel cardiac isoform of the cell
            cycle-related kinase that is regulated during heart failure
  JOURNAL   J Biol Chem 283 (32), 22157-22165 (2008)
   PUBMED   18508765
REFERENCE   9  (bases 1 to 2149)
  AUTHORS   Wohlbold L, Larochelle S, Liao JC, Livshits G, Singer J, Shokat KM
            and Fisher RP.
  TITLE     The cyclin-dependent kinase (CDK) family member PNQALRE/CCRK
            supports cell proliferation but has no intrinsic CDK-activating
            kinase (CAK) activity
  JOURNAL   Cell Cycle 5 (5), 546-554 (2006)
   PUBMED   16552187
  REMARK    GeneRIF: Depletion of PNQALRE by >80% due to RNA interference (RNAi)
            impairs cell proliferation, but fails to arrest the cell cycle at a
            discrete point.
REFERENCE   10  (bases 1 to 2149)
  AUTHORS   Liu Y, Wu C and Galaktionov K.
  TITLE     p42, a novel cyclin-dependent kinase-activating kinase in mammalian
            cells
  JOURNAL   J Biol Chem 279 (6), 4507-4514 (2004)
   PUBMED   14597612
  REMARK    GeneRIF: identification of p42, a novel cyclin-dependent
            kinase-activating kinase (CAK) activity in human cells; p42 is
            essential for the phosphorylation of Thr-160 and activation of CDK2
            and is indispensable for cell growth
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3123880.1,
            SRR18074969.3611155.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2158188,
            SAMN03267762 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000325303.9/ ENSP00000322343.8
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL353572.13, AI479563.1 and
            BM982394.1.
            On Feb 27, 2020 this sequence version replaced NM_001039803.2.
            Summary: The protein encoded by this gene contains a kinase domain
            most closely related to the cyclin-dependent protein kinases. The
            encoded kinase may activate cyclin-dependent kinase 2 and is
            involved in cell growth. Alternatively spliced transcript variants
            encoding distinct isoforms have been reported. [provided by RefSeq,
            Dec 2009].
            Transcript Variant: This variant (3) uses an alternate in-frame
            splice site in the 5' coding region and contains an alternate,
            in-frame exon in the middle portion of the coding region, compared
            to variant 1. This results in a longer protein (isoform 3),
            compared to isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2149
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.1"
     gene            1..2149
                     /gene="CDK20"
                     /gene_synonym="CCRK; CDCH; P42; PNQALRE"
                     /note="cyclin dependent kinase 20"
                     /db_xref="GeneID:23552"
                     /db_xref="HGNC:HGNC:21420"
                     /db_xref="MIM:610076"
     CDS             88..1128
                     /gene="CDK20"
                     /gene_synonym="CCRK; CDCH; P42; PNQALRE"
                     /EC_number="2.7.11.22"
                     /note="isoform 3 is encoded by transcript variant 3; cell
                     division protein kinase 20; CAK-kinase p42; CDK-activating
                     kinase p42; cyclin-kinase-activating kinase p42;
                     cyclin-dependent protein kinase H; cell cycle-related
                     kinase"
                     /codon_start=1
                     /product="cyclin-dependent kinase 20 isoform 3"
                     /protein_id="NP_001034892.1"
                     /db_xref="CCDS:CCDS35060.1"
                     /db_xref="GeneID:23552"
                     /db_xref="HGNC:HGNC:21420"
                     /db_xref="MIM:610076"
                     /translation="MDQYCILGRIGEGAHGIVFKAKHVETGEIVALKKVALRRLEDGFP
                     NQALREIKALQEMEDNQYVVQLKAVFPHGGGFVLAFEFMLSDLAEVVRHAQRPLAQAQV
                     KSYLQMLLKGVAFCHANNIVHRDLKPANLLISASGQLKIADFGLARVFSPDGSRLYTHQ
                     VATRWYRAPELLYGARQYDQGVDLWSVGCIMGELLNGSPLFPGKNDIEQLCYVLRILGT
                     PNPQVWPELTELPDYNKISFKEQVPMPLEEVLPDVSPQALDLLGQFLLYPPHQRIAASK
                     ALLHQYFFTAPLPAHPSELPIPQRLGGPAPKAHPGPPHIHDFHVDRPLEESLLNPELIR
                     PFILEG"
     regulatory      1958..1963
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDK20"
                     /gene_synonym="CCRK; CDCH; P42; PNQALRE"
                     /note="hexamer: AATAAA"
     polyA_site      1979
                     /gene="CDK20"
                     /gene_synonym="CCRK; CDCH; P42; PNQALRE"
                     /note="major polyA site"
     regulatory      2116..2121
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDK20"
                     /gene_synonym="CCRK; CDCH; P42; PNQALRE"
                     /note="hexamer: AATAAA"
     polyA_site      2149
                     /gene="CDK20"
                     /gene_synonym="CCRK; CDCH; P42; PNQALRE"
                     /note="major polyA site"
ORIGIN
        1 gtgcgagctc agatcagcgt ggggtggagg agaagtggag tttggaagtt caggggcaca
       61 ggggcacagg cccacgactg cagcgggatg gaccagtact gcatcctggg ccgcatcggg
      121 gagggcgccc acggcatcgt cttcaaggcc aagcacgtgg agactggcga gatagttgcc
      181 ctcaagaagg tggccctaag gcggttggag gacggcttcc ctaaccaggc cctgcgggag
      241 attaaggctc tgcaggagat ggaggacaat cagtatgtgg tacaactgaa ggctgtgttc
      301 ccacacggtg gaggctttgt gctggccttt gagttcatgc tgtcggatct ggccgaggtg
      361 gtgcgccatg cccagaggcc actagcccag gcacaggtca agagctacct gcagatgctg
      421 ctcaagggtg tcgccttctg ccatgccaac aacattgtac atcgggacct gaaacctgcc
      481 aacctgctca tcagcgcctc aggccagctc aagatagcgg actttggcct ggctcgagtc
      541 ttttccccag acggcagccg cctctacaca caccaggtgg ccaccaggtg gtaccgagcc
      601 cccgagctcc tgtatggtgc ccgccagtat gaccagggcg tcgatctgtg gtctgtgggc
      661 tgcatcatgg gggagctgtt gaatgggtcc ccccttttcc cgggcaagaa cgatattgaa
      721 cagctttgct atgtgcttcg catcttgggc accccaaacc ctcaagtctg gccggagctc
      781 actgagctgc cggactacaa caagatctcc tttaaggagc aggtgcccat gcccctggag
      841 gaggtgctgc ctgacgtctc tccccaggca ttggatctgc tgggtcaatt ccttctctac
      901 cctcctcacc agcgcatcgc agcttccaag gctctcctcc atcagtactt cttcacagct
      961 cccctgcctg cccatccatc tgagctgccg attcctcagc gtctaggggg acctgccccc
     1021 aaggcccatc cagggccccc ccacatccat gacttccacg tggaccggcc tcttgaggag
     1081 tcgctgttga acccagagct gattcggccc ttcatcctgg aggggtgaga agttggccct
     1141 ggtcccgtct gcctgctcct caggaccact cagtccacct gttcctctgc cacctgcctg
     1201 gcttcaccct ccaaggcctc cccatggcca cagtgggccc acaccacacc ctgcccctta
     1261 gcccttgcga gggttggtct cgaggcagag gtcatgttcc cagccaagag tatgagaaca
     1321 tccagtcgag cagaggagat tcatggcctg tgctcggtga gccttacctt ctgtgtgcta
     1381 ctgacgtacc catcaggaca gtgagctctg ctgccagtca aggcctgcat atgcagaatg
     1441 acgatgcctg ccttggtgct gcttccccga gtgctgcctc ctggtcaagg agaagtgcag
     1501 agagtaaggt gtccttatgt tggaaactca agtggaagga agatttggtt tggttttatt
     1561 ctcagagcca ttaaacacta gttcagtatg tgagatatag attctaaaaa cctcaggtgg
     1621 ctctgcctta tgtctgttcc tccttcattt ctctcaaggg aaatggctaa ggtggcattg
     1681 tctcatggct ctcgtttttg gggtcatggg gagggtagca ccaggcatag ccacttttgc
     1741 cctgagggac tcctgtgtac ttcacatcac tgagcactca tttagaagtg agggagacag
     1801 aagtctaggc ccagggatgg ctccagttgg ggatccagca ggagaccctc tgcacatgag
     1861 gctggtttac caacatctac tccctcagga tgagcgtgag ccagaagcag ctgtgtattt
     1921 aaggaaacaa gcgttcctgg aattaattta taaatttaat aaatcccaat ataatcccag
     1981 ctagtgcttt ttccttatta taatttgata aggtgattat aaaagataca tggaaggaag
     2041 tggaaccaga tgcagaagag gaaatgatgg aaggacttac ggtatcagat accaatattt
     2101 aaaagtttgt ataataataa agagtatgat tgtggttcaa ggataaaaa
//
LOCUS       NM_001039840            6869 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens cysteine rich hydrophobic domain 1 (CHIC1), transcript
            variant 1, mRNA.
ACCESSION   NM_001039840
VERSION     NM_001039840.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6869)
  AUTHORS   Cools J, Mentens N and Marynen P.
  TITLE     A new family of small, palmitoylated, membrane-associated proteins,
            characterized by the presence of a cysteine-rich hydrophobic motif
  JOURNAL   FEBS Lett 492 (3), 204-209 (2001)
   PUBMED   11257495
REFERENCE   2  (bases 1 to 6869)
  AUTHORS   Simmler MC, Heard E, Rougeulle C, Cruaud C, Weissenbach J and Avner
            P.
  TITLE     Localization and expression analysis of a novel conserved brain
            expressed transcript, Brx/BRX, lying within the Xic/XIC candidate
            region
  JOURNAL   Mamm Genome 8 (10), 760-766 (1997)
   PUBMED   9321471
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AL832095.1, BC136691.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000373502.10/ ENSP00000362601.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL358796.43 and AL356513.15.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 29, 2021 this sequence version replaced NM_001039840.3.
            Summary: This gene encodes a cysteine-rich hydrophobic (CHIC)
            domain-containing protein, and is one of the few protein-coding
            genes found near the X-inactivation center. Studies in mouse
            indicate that the mouse ortholog of this gene is subject to
            X-inactivation in mouse. Experiments with other CHIC
            domain-containing family members show that the cysteine residues
            are palmitoylated post-translationally, resulting in membrane
            association. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, May
            2017].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6869
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.2"
     gene            1..6869
                     /gene="CHIC1"
                     /gene_synonym="BRX"
                     /note="cysteine rich hydrophobic domain 1"
                     /db_xref="GeneID:53344"
                     /db_xref="HGNC:HGNC:1934"
                     /db_xref="MIM:300922"
     CDS             89..763
                     /gene="CHIC1"
                     /gene_synonym="BRX"
                     /note="isoform 1 is encoded by transcript variant 1; brain
                     X-linked protein; cysteine-rich hydrophobic
                     domain-containing protein 1"
                     /codon_start=1
                     /product="cysteine-rich hydrophobic domain-containing
                     protein 1 isoform 1"
                     /protein_id="NP_001034929.2"
                     /db_xref="CCDS:CCDS35335.2"
                     /db_xref="GeneID:53344"
                     /db_xref="HGNC:HGNC:1934"
                     /db_xref="MIM:300922"
                     /translation="MSILLPNMAEFDTISELEEEEEEEAATSSSSPSSSSSVSGPDDDE
                     EDEEEEEEEEEEEEEEEEEEEEEAPPPPRVVSEEHLRRYAPDPVLVRGAGHITVFGLSN
                     KFDTEFPSVLTGKVAPEEFKTSIGRVNACLKKALPVNVKWLLCGCLCCCCTLGCSLWPV
                     ICLNKRTRRSIQKLIEWENNRLYHKLALHWKLTKRKCETSNMMEYVILIEFLPKYPIFR
                     PD"
     misc_feature    89..328
                     /gene="CHIC1"
                     /gene_synonym="BRX"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXU3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      6838..6843
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHIC1"
                     /gene_synonym="BRX"
                     /note="hexamer: AATAAA"
     polyA_site      6869
                     /gene="CHIC1"
                     /gene_synonym="BRX"
                     /note="major polyA site"
ORIGIN
        1 ctcttcattt cgttccccct cctcttgcag cacctcggca ggttcaaact cttctccggg
       61 agcgtggcgg cgatcgcgag gtcacgtgat gagcatcctg ctgcccaaca tggcggagtt
      121 cgacaccatc tcggaactgg aggaggagga ggaagaagaa gcggcaacgt cgtcgtcgtc
      181 gccgtcgtcg tcgtcgtcgg tatctgggcc cgacgatgac gaggaggatg aggaggaaga
      241 ggaggaagag gaggaggagg aagaagagga ggaggaggaa gaggaggagg aagcgccgcc
      301 cccgcctcgg gtagtgagcg aggagcatct gcggagatat gctcccgacc ctgtattagt
      361 gcggggtgcc ggccacatca ctgtgtttgg cttgagcaac aagtttgata ctgaatttcc
      421 ctccgttcta acagggaagg tggccccaga agaatttaaa accagcattg gccgtgtgaa
      481 tgcatgtttg aaaaaggctc tcccggtcaa tgtgaaatgg ctgctgtgtg gttgtctctg
      541 ctgctgttgc acactgggtt gcagcctatg gcctgttatt tgtctcaaca aaagaaccag
      601 aagatcaatt cagaagttaa tagaatggga aaataacaga ttatatcaca agcttgcttt
      661 gcactggaag ttgactaaga ggaaatgtga aactagcaat atgatggagt atgtaatact
      721 aatagaattc ttaccaaaat atcccatatt ccgacctgac tgaggagttt tatccagtca
      781 cttctgtgtt acctgtcatt tcctaccctt agtgccttgt agatttggaa tgaagatggt
      841 ctcctttgct gtgttcaact tattctttat aatggtagaa tattcttctc gctcttttgt
      901 gttggtttat gaagaaaatt tgcacatctt ttttgtcttt caatgaggct tgtgttttgc
      961 actctcaatt ttaaatacac acacatgcgt gtgtgcatat acatatatag atagttgcca
     1021 ttaaagataa atcatcagtg ttggtgttta aaaaacaaaa acttgttctg agcatgctgc
     1081 cttataattt tcatactcat tgtttctaaa ctcgcatcat ttttctaggc tacttgatgc
     1141 tctgtaatcc cttactggac aaacttaaat aagcttttgg tagcttttag aaatggtttt
     1201 actctgcttt taaaggacat gcttttaaag gacatgcaat taatggcact ggttttgtcc
     1261 tgcactttgc tttatcactt atgttagtgg ataaaatatt taaactccta aagacttgta
     1321 aatattgcct ctttgcataa tgtaaaatgt ggtatgccat ggtttacata atgtaacatt
     1381 actcttattg tattgccaac aattttacat agattttaat atgaatgaag tttgcaagca
     1441 tccctttgaa tgtagaaact gctaacatgc tgttttatgg caaggccata atgagtatgt
     1501 taagaatttc aggtgtaggg caaggttgcc ctttgtaaca agtggactaa aattgaaatt
     1561 attatctcag atattctgta ttgcacctga aaccatgacc tttatttttc catttcgttt
     1621 aataatttcc attttgttgt ctactccttc ccacaaaaaa actatttgac atctgacaca
     1681 tttcacagtc tcactatcct gcatttatta gccttttctt cctttgaaaa tacacacaat
     1741 tatgactttt aaggagtatt ttgagatttc agacatcttc agaaggtatc tagaccctct
     1801 tgaaagccac taacaccttt ctgcagttct gatattctag tttgagaaag agagagaact
     1861 atttgagaag ctgtagctaa agagtatata gcagctgatt cataattgaa aaaaaattct
     1921 caattctgtt tttgatgatc ctttataaaa cattaatgag gaaagacaag tgtttagaca
     1981 aaagtatttt agtttataaa ttcagcacat atgtaacatt tatttggtcc atatttctct
     2041 atttttcttc acaattaaaa tgattgctag caccacacaa ctagaatttg aaaattcagt
     2101 ataatgaaag ctttatatca cattaattca actgcaaatg tatgcctgtt tgtaggcatt
     2161 atttgtaatt catagtgcta aaaataaaag tgtctagggc tcagtaatat tttgtcatct
     2221 tactcttact gcttttagta aaccttttag gcaagattca tctcagtgaa gtgaacaatc
     2281 atttcttcat agaaggtcaa gcctttttaa gccactctta aaatttatgc ctaatttgaa
     2341 atccacagtc cttgaccagt ttaaaaaaga gaggaaaaag aagacactat tttatatgtg
     2401 attataattg tttgcacaaa cacttttcca ccttcctctg tgccccatta cctctgtgcc
     2461 actcagtcac cccaaatctc taacctttag taatgtgtat gcctgcaaat attatgtgtt
     2521 tgcctgctgc aaaattgaag gtgtattttt atagacaagg tagaagcctc tgaaaatgta
     2581 taccaaatgt cttgttttgt agctaaggtc gggaaaaatt gtatctgagg tttatgttcc
     2641 agctaatgtt atcaaattta tgcttcaaac tgtgatattt taataccaaa atcgattttc
     2701 agcataatac aaaatatctc attttcactg atagaaaatt gcttttaagt gttgatcctt
     2761 agaaatctta tttttttcta taaccttaga atttgatcat atgatggtca taggaacttt
     2821 ttctgccatg tataaatcac acttggtttt gctcaaagaa cagcatgaag tggtgaattg
     2881 tttccatgaa acaattattg agaatgggaa tacagtatat ctggaaatga cacagtataa
     2941 tacaagttac agtagcattt gtcacaaaaa ccacttgtca gcatgtgtaa acttaatttt
     3001 aaagcctatt ctaatcactc gagtttatta ttttattgtt cgctatgctg gttgactcat
     3061 cttagtttct tcaactaccc aaaaaaatac caattttttt cctctcttgt atgactactt
     3121 tttcaaactg ttttcctttg cagggggctg attagcaatt gagtattttg taatgtttgg
     3181 gcggggttgc tttgttttca gtgaaattgg ttgcagtgaa tgctaaaatg acacagcaca
     3241 ctggtgatta attcctcccc catggagcct tttttctgtt atgcttagga tagaacatac
     3301 ttgtaatttt ccattaggtt agtaacatac ttttgtgaaa gttgttttta gactgaagaa
     3361 agtaattttg aatttctttg ttacataata ttcctttatg aaacttgtga tagtttccag
     3421 agcaaaacat gtatttgcca aagtatataa atctcacaag gctttaagat tacaagctaa
     3481 aattgttttt taaaattaat gttccaatgt ttctcatttg gcccaagatt ctggcttcat
     3541 aaatttgtcc aactggctat ttttaagctt gtcctaaaag ccaataacat gtttattcct
     3601 aataactaat atgggcaagt gttatttaca gatttattaa ctccatccca gatatgtctc
     3661 cactctttgt tccctcctaa tgctaattta ggaaagagac cactgtagta aaactttaga
     3721 agaagatgga gaagtgcctt gtctttttag aacaaagata acacattacg tgtaaggaag
     3781 cataataaat gaattggtag atgattagat tagaaatcat ccttttcaac taggtctaag
     3841 aatactttac tagtgtatta tcttttattt attatgtaaa gcttctttcc ttccttttcc
     3901 ccaatcatga tatattagtg acaaaatatt acagaaccgg actatcagtc acttaaaaaa
     3961 acagtataat tctaatgcta gtaaacatgt aatttaattt agttctggaa ggacagttgt
     4021 ctttgattaa agccccacca aaacccattt aagtatttaa tgtacatact attcatatta
     4081 ttatggcctg taaacactaa tatctgagca atcaaactgt tttatctacc atttttgatg
     4141 aaatttgaat aaagtttaaa aacgtgtaag cctttgaaca aatgtatgaa agctttaaaa
     4201 gatcattagc acttttattt tgtttacaaa taagctgcca tttaaaaaaa taaaacctca
     4261 ctacttgaac ataaagctcc caaacaatat tgtattaaaa tgtactatat tgacctagga
     4321 ggatatagaa attatattca cctgattaac tggagcagtt tcacatagta gaaatacttt
     4381 ttgctaattt gattataagt gctcaaattt attgaaatta gattctcatg cctataaaag
     4441 tatactttaa aaatattttg caacaactgt caaattattt gggttccttt aaatagcaaa
     4501 caattgggaa attttccata aaaatgaata ggttttatta atacctgttc atgtagtatg
     4561 tggactaaaa caattgatat atatctgtat gtaaaaatga atgatcttat cttgccccaa
     4621 atttttctta cctgattctg agccagcctt tttgttttga tggcaccctg tgagtatgtt
     4681 ccattttctg tgaactttgt caaattcata ctatatgagg aaatgatcta atattgtggg
     4741 ctccaggcag gtcatcttaa ttgcatgtct gtctcttctg taaaatgatg aggtggaacc
     4801 tagagctgga caaaaaatta gagatcactt aacattctgt gattcaagga attcttagga
     4861 catttttact ctatagaatc tcagaatgat tattctcaga tctactgtcc ttggtggaaa
     4921 ctctcacagt gccttgcatg cagtaaaagt ttgatttgcc gactggctga cgtgttaatt
     4981 atcacacaga ctccaagaac ctgatgcttg ctagacctta gttccttggt gatgctaaga
     5041 gtaaatgtag ttttcctagg aactgagcac tgaggtctgt gtcctttgcc tgtgtagaat
     5101 ctgtctatgc agttggtatt caggcaagaa ttttagctgt aacaacaatg gaaatattgg
     5161 aggacccact ttggcattta tgtaaagatt tcatatccta tccaacattt actttagtgt
     5221 ctaatcaaat tccataccct caaaaagatc tgttggaaca aattgataaa attaggtgga
     5281 aaggaaagtg gtatgggact caaatacaag tcacttctgg tttaattatt ggctctgctg
     5341 cttaattcct ctgtacctca cgtcctcatt gtcgaagtgg ggacaataat ctggacctac
     5401 ctcacagggg aattgaggat attttcatat attagtgtgc tttgaagttg actgaaagat
     5461 atactggata tcataattat ataatttcta aatagatttc tttaaatcca tgctatgttt
     5521 tctttttcag tcaggtccta cagaatgact attgcacttg gtctattgtt ttaatagtaa
     5581 attttgttat taatctccta tgtgttaaac gtgggtaatt gtattatgtt aatacatact
     5641 tagggaggaa aagcaggtgg atgtaaatca gtgattccca acttcagcag atgatagcag
     5701 tggagggtat ccttgagctt tttgtaatat ttcaaaaagt atattagaaa ttatacattt
     5761 acccataata ttcctgcttc acaagtcaat taagacattg aatttccatt cattttgcct
     5821 atattctctc aaaagctgtg aatggcagta tgtttttgat taataataaa ataagaaatc
     5881 ctattatgtg caacttatta aatacttggg aacatgggaa aagaataatg aagggattct
     5941 tatggtgaaa atgttgggaa ccacttttat aaaggaacta agattatttg accccctcca
     6001 cagattgctt acctagtctc taaataatga aatgtgtgtg tttgtgtgtt ttggctatat
     6061 taggctatat aacttcaggt tagaatttgc cttcagtttt ttttctgttt tagaatatca
     6121 ctggcctaat ttatttaggt gtgtacatgt tgctcataca tacacacaca tataggatta
     6181 caaatgtgga aaatgttata atgtcatatt ctagcattgg actaaatatc aatttctgac
     6241 tcttaaagta gttctgtgta taaattcaac atgatgaatc aaggcaataa tttctcaaat
     6301 gttcttttat ttctttgttt ttatctcgac tttttatttt ccattttttc tagtacgcaa
     6361 atagtgtaaa attgttttaa tgcctggact ttgaaacaag taacaagtgt ttgaaagtat
     6421 ataatctacg agcgaatttg ccctccttgg actaaccaca tacaaatatg aatctggctg
     6481 caagaacagg atatccaggt aactagagag tgggcattga taaaaatatc tggtggagaa
     6541 gcctaggatt tcaacttttt gtcagaggat tcctgttggg acagctttac cagaaaagaa
     6601 taatagcgga tatgttcatc caaactaaga actttcatgc atcttgcatt gttacatagc
     6661 ctgtggaatg aattcatttt ttctcccttg agtccaggaa tgacttccct ggaaaaactc
     6721 aatctatata cagctgtgcc aaaatgaagg atacctgcct ctccgaaact ttcactgctg
     6781 cttctgtcat tgttcacttg tcagataaaa ttttattatc tcaggatgca aatttaaaat
     6841 aaagtgtaaa tctatgttaa tgaattgaa
//
LOCUS       NM_001039841            1565 bp    mRNA    linear   PRI 22-SEP-2023
DEFINITION  Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B),
            transcript variant 1, mRNA.
ACCESSION   NM_001039841
VERSION     NM_001039841.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1565)
  AUTHORS   Fischer J, Fernandez Ortuno E, Marsoner F, Artioli A, Peters J,
            Namba T, Eugster Oegema C, Huttner WB, Ladewig J and Heide M.
  TITLE     Human-specific ARHGAP11B ensures human-like basal progenitor levels
            in hominid cerebral organoids
  JOURNAL   EMBO Rep 23 (11), e54728 (2022)
   PUBMED   36098218
  REMARK    GeneRIF: Human-specific ARHGAP11B ensures human-like basal
            progenitor levels in hominid cerebral organoids.
REFERENCE   2  (bases 1 to 1565)
  AUTHORS   Fischer J, Ortuno EF, Marsoner F, Artioli A, Peters J, Namba T,
            Oegema CE, Huttner WB, Ladewig J and Heide M.
  TITLE     Human-specific ARHGAP11B ensures human-like basal progenitor levels
            in hominid cerebral organoids
  JOURNAL   EMBO Rep 23 (11), e54728 (2022)
   PUBMED   36381990
  REMARK    GeneRIF: Human-specific ARHGAP11B ensures human-like basal
            progenitor levels in hominid cerebral organoids.
REFERENCE   3  (bases 1 to 1565)
  AUTHORS   Xing L, Kubik-Zahorodna A, Namba T, Pinson A, Florio M, Prochazka J,
            Sarov M, Sedlacek R and Huttner WB.
  TITLE     Expression of human-specific ARHGAP11B in mice leads to neocortex
            expansion and increased memory flexibility
  JOURNAL   EMBO J 40 (13), e107093 (2021)
   PUBMED   33938018
  REMARK    GeneRIF: Expression of human-specific ARHGAP11B in mice leads to
            neocortex expansion and increased memory flexibility.
REFERENCE   4  (bases 1 to 1565)
  AUTHORS   Heide M, Haffner C, Murayama A, Kurotaki Y, Shinohara H, Okano H,
            Sasaki E and Huttner WB.
  TITLE     Human-specific ARHGAP11B increases size and folding of primate
            neocortex in the fetal marmoset
  JOURNAL   Science 369 (6503), 546-550 (2020)
   PUBMED   32554627
  REMARK    GeneRIF: Human-specific ARHGAP11B increases size and folding of
            primate neocortex in the fetal marmoset.
REFERENCE   5  (bases 1 to 1565)
  AUTHORS   Namba T, Doczi J, Pinson A, Xing L, Kalebic N, Wilsch-Brauninger M,
            Long KR, Vaid S, Lauer J, Bogdanova A, Borgonovo B, Shevchenko A,
            Keller P, Drechsel D, Kurzchalia T, Wimberger P, Chinopoulos C and
            Huttner WB.
  TITLE     Human-Specific ARHGAP11B Acts in Mitochondria to Expand Neocortical
            Progenitors by Glutaminolysis
  JOURNAL   Neuron 105 (5), 867-881 (2020)
   PUBMED   31883789
  REMARK    GeneRIF: an ARHGAP11B-induced, mitochondria-based effect on basal
            progenitor metabolism that is a hallmark of highly mitotically
            active cells appears to underlie its role in neocortex expansion.
REFERENCE   6  (bases 1 to 1565)
  AUTHORS   Dougherty ML, Underwood JG, Nelson BJ, Tseng E, Munson KM, Penn O,
            Nowakowski TJ, Pollen AA and Eichler EE.
  TITLE     Transcriptional fates of human-specific segmental duplications in
            brain
  JOURNAL   Genome Res 28 (10), 1566-1576 (2018)
   PUBMED   30228200
REFERENCE   7  (bases 1 to 1565)
  AUTHORS   Florio M, Namba T, Paabo S, Hiller M and Huttner WB.
  TITLE     A single splice site mutation in human-specific ARHGAP11B causes
            basal progenitor amplification
  JOURNAL   Sci Adv 2 (12), e1601941 (2016)
   PUBMED   27957544
  REMARK    GeneRIF: The data also demonstrate that a single C-->G base
            substitution underlies the ARHGAP11B-mediated basal progenitor
            amplification implicated in neocortex expansion. Publication Status:
            Online-Only
REFERENCE   8  (bases 1 to 1565)
  AUTHORS   Florio M, Albert M, Taverna E, Namba T, Brandl H, Lewitus E, Haffner
            C, Sykes A, Wong FK, Peters J, Guhr E, Klemroth S, Prufer K, Kelso
            J, Naumann R, Nusslein I, Dahl A, Lachmann R, Paabo S and Huttner
            WB.
  TITLE     Human-specific gene ARHGAP11B promotes basal progenitor
            amplification and neocortex expansion
  JOURNAL   Science 347 (6229), 1465-1470 (2015)
   PUBMED   25721503
  REMARK    GeneRIF: ARHGAP11B may have contributed to evolutionary expansion of
            human neocortex.
REFERENCE   9  (bases 1 to 1565)
  AUTHORS   Speed D, Hoggart C, Petrovski S, Tachmazidou I, Coffey A, Jorgensen
            A, Eleftherohorinou H, De Iorio M, Todaro M, De T, Smith D, Smith
            PE, Jackson M, Cooper P, Kellett M, Howell S, Newton M, Yerra R, Tan
            M, French C, Reuber M, Sills GE, Chadwick D, Pirmohamed M, Bentley
            D, Scheffer I, Berkovic S, Balding D, Palotie A, Marson A, O'Brien
            TJ and Johnson MR.
  TITLE     A genome-wide association study and biological pathway analysis of
            epilepsy prognosis in a prospective cohort of newly treated epilepsy
  JOURNAL   Hum Mol Genet 23 (1), 247-258 (2014)
   PUBMED   23962720
REFERENCE   10  (bases 1 to 1565)
  AUTHORS   Riley B, Williamson M, Collier D, Wilkie H and Makoff A.
  TITLE     A 3-Mb map of a large Segmental duplication overlapping the
            alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human
            15q13-q14
  JOURNAL   Genomics 79 (2), 197-209 (2002)
   PUBMED   11829490
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC105788.1, MH721907.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000697964.2/ ENSP00000513489.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC091057.6, AL556699.3 and BC105788.1.
            On Aug 13, 2020 this sequence version replaced NM_001039841.2.
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1565
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.2"
     gene            1..1565
                     /gene="ARHGAP11B"
                     /gene_synonym="B'-T; FAM7B1; GAP (1-8)"
                     /note="Rho GTPase activating protein 11B"
                     /db_xref="GeneID:89839"
                     /db_xref="HGNC:HGNC:15782"
                     /db_xref="MIM:616310"
     misc_feature    610..612
                     /gene="ARHGAP11B"
                     /gene_synonym="B'-T; FAM7B1; GAP (1-8)"
                     /note="upstream in-frame stop codon"
     CDS             694..1497
                     /gene="ARHGAP11B"
                     /gene_synonym="B'-T; FAM7B1; GAP (1-8)"
                     /note="family with sequence similarity 7, member B1; rho
                     GTPase-activating protein 11B; rho-type GTPase-activating
                     protein 11B"
                     /codon_start=1
                     /product="inactive Rho GTPase-activating protein 11B"
                     /protein_id="NP_001034930.1"
                     /db_xref="CCDS:CCDS32185.1"
                     /db_xref="GeneID:89839"
                     /db_xref="HGNC:HGNC:15782"
                     /db_xref="MIM:616310"
                     /translation="MWDQRLVKLALLQHLRAFYGIKVKGVRGQCDRRRHETAATEIGGK
                     IFGVPFNALPHSAVPEYGHIPSFLVDACTSLEEHIHTEGLFRKSGSVIRLKALKNKVDH
                     GEGCLSSAPPCDIAGLLKQFFRELPEPILPADLHEALLKAQQLGTEEKNKAILLLSCLL
                     ADHTVHVLRYFFNFLRNVSLRSSENKMDSSNLAVIFAPNLLQTSEGHEKMSSNAEKKGV
                     YQTLSWKRYQPCWVLMVSVLLHHWKALKKVNMKLLVNIREREDNV"
ORIGIN
        1 ggtggctccg ggtgtctgca gtggagctgg gggcggaagc atgaggctaa cggcttggct
       61 tcagtgaacg caccgggatg tgcaggccgg gaggtagagg caggctgatg ggggagggaa
      121 cgagcagcct gtgagacggg gtgacggcgg ctaccagccc gggcgggcac cgggactgga
      181 agagttgcct gagcagccgg ctggtccggc ggccaggcta gggcgggggc gagcgcccag
      241 ttgagcctgc tggggctgga ggagcgagaa gggttctctt cacatttcag agcgaaccag
      301 acggacagta aggtttggag gaagggggat cgttggaagt agcaggaagt ggagagaatc
      361 tggcaatagg cgagaaaccg aaagaatcag aaagaagtct atgtgagtag ctgaaagcat
      421 tgggtgacca gaaagaaggt cgctgtaagt gaaggaagag tgaggtgtgg ctggatcaaa
      481 gggctaagag aagcgggtct gtgtaagtgg atgtgagtga ggatcaagga aaagccgtgg
      541 aagtggccgg gggtcggggc cgcagaagtg ccagacgggg ccggaaagca gccgagcgga
      601 gttcaaattt gagagcgttt ggaaattgga agacttggtg gcgaacgagg gtcaggacct
      661 gcatcctgcc tcagagttat cgacgtatcc ggaatgtggg atcagaggct ggtgaagttg
      721 gccctgttgc agcatctgcg ggccttctat ggtattaagg tgaagggtgt ccgtgggcag
      781 tgcgatcgca ggagacatga aacagcagcc acggaaatag ggggtaaaat atttggagta
      841 ccttttaatg cactgcccca ttctgctgta ccagaatatg gacacattcc aagctttctt
      901 gtcgatgctt gcacatcttt agaagaacat attcataccg aagggctttt tcggaaatca
      961 ggatctgtga ttcgcctaaa agcactaaag aataaagtgg atcatggtga aggttgccta
     1021 tcttctgcac ctccttgtga tattgcggga cttcttaagc agttttttag ggaactgcca
     1081 gagcccattc tcccagctga tttgcatgaa gcacttttga aagctcaaca gttaggcaca
     1141 gaggaaaaga ataaagctat actgttgctc tcctgtcttc tggctgacca cacagttcat
     1201 gtattaagat acttctttaa ctttctcagg aatgtttctc ttagatccag tgagaataag
     1261 atggatagca gcaatcttgc agtaatattt gcaccaaatc ttcttcagac aagtgaagga
     1321 catgaaaaga tgtcttctaa cgcagaaaag aagggcgtgt accagacttt atcctggaaa
     1381 agataccagc catgttgggt attgatggtc tctgtgctac tccatcactg gaaggctttg
     1441 aagaaggtga atatgaaact cctggtgaat ataagagaaa gagaagacaa cgtgtaggag
     1501 attttgttag tggagcacta aataaattta aacctaacag aacaccttct attacacctc
     1561 aacaa
//
LOCUS       NM_001039842             637 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens oxidoreductase like domain containing 1 (OXLD1),
            transcript variant 1, mRNA.
ACCESSION   NM_001039842
VERSION     NM_001039842.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 637)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer
            JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
REFERENCE   2  (bases 1 to 637)
  AUTHORS   Kim JM, Lee KH, Jeon YJ, Oh JH, Jeong SY, Song IS, Kim JM, Lee DS
            and Kim NS.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BM919767.1, SRR1163658.425645.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374741.4/ ENSP00000363873.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY012937.1, BC090923.1 and BC048102.1.
            On Nov 23, 2018 this sequence version replaced NM_001039842.2.
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..637
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..637
                     /gene="OXLD1"
                     /gene_synonym="C17orf90"
                     /note="oxidoreductase like domain containing 1"
                     /db_xref="GeneID:339229"
                     /db_xref="HGNC:HGNC:27901"
     CDS             29..472
                     /gene="OXLD1"
                     /gene_synonym="C17orf90"
                     /note="isoform a is encoded by transcript variant 1;
                     oxidoreductase-like domain-containing protein 1"
                     /codon_start=1
                     /product="oxidoreductase-like domain-containing protein 1
                     isoform a"
                     /protein_id="NP_001034931.1"
                     /db_xref="CCDS:CCDS32766.1"
                     /db_xref="GeneID:339229"
                     /db_xref="HGNC:HGNC:27901"
                     /translation="MLLRRVVEGGRAVAAAVRGSGARRFSSPDCCQRLPGGGSFLQRHH
                     PGAQAPDGRRKFGTDHVEVGSQAGADGTRPPKASLPPELQPPTNCCMSGCPNCVWVEYA
                     DRLLQHFQDGGERALAALEEHVADENLKAFLRMEIRLHTRCGG"
     misc_feature    134..274
                     /gene="OXLD1"
                     /gene_synonym="C17orf90"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BKU9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      609..614
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OXLD1"
                     /gene_synonym="C17orf90"
                     /note="hexamer: AATAAA"
     polyA_site      637
                     /gene="OXLD1"
                     /gene_synonym="C17orf90"
                     /note="major polyA site"
ORIGIN
        1 aggggttgcc ggatcccgtc cgcgggcgat gctgctgcgg agggtggtcg agggaggccg
       61 ggcggtagcc gccgcggtcc gtggctcggg ggctcgccgg ttctccagcc cggactgctg
      121 ccagaggctt cctggaggtg gcagctttct tcaaaggcac catcccggag cgcaagcccc
      181 tgatgggcgc agaaaattcg ggacagacca cgtagaggtg ggctcccaag caggtgcgga
      241 cggcaccagg ccgcccaagg catcgctgcc acctgagctc cagccgccca caaactgctg
      301 catgagtggc tgccccaact gcgtgtgggt ggagtacgcg gacaggctgc tgcagcactt
      361 ccaggacggt ggggagcggg ccctggctgc cctggaggag cacgtggctg atgagaacct
      421 caaggccttc ctcaggatgg agatccggct gcacaccagg tgcggaggct gagccatccc
      481 tgctggactc cctaccgcag gacggagtcc aggacgcagc cgcagcctcc ttccttcaca
      541 ccccctcaca gactccttgt gtccaacggg aataggaaga attagttact gacttcacct
      601 gagaaaaaaa taaattctct atggtggttt cacagga
//
LOCUS       NM_001039844            3370 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens acyl-CoA binding domain containing 7 (ACBD7), mRNA.
ACCESSION   NM_001039844
VERSION     NM_001039844.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3370)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3370)
  AUTHORS   Lanfray D and Richard D.
  TITLE     Emerging Signaling Pathway in Arcuate Feeding-Related Neurons: Role
            of the Acbd7
  JOURNAL   Front Neurosci 11, 328 (2017)
   PUBMED   28690493
  REMARK    Review article Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3370)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   4  (bases 1 to 3370)
  AUTHORS   Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L,
            Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE,
            Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles
            J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage
            AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H,
            Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J,
            Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee
            CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner
            L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S,
            Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E,
            Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C,
            Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK,
            Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G,
            Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE,
            McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T,
            Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S,
            Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T,
            Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N,
            Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall
            M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL,
            Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK,
            Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm
            L, Beck S, Smith DR and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.261578.1,
            SRR1660809.90022.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2157437,
            SAMEA2158188 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000356189.6/ ENSP00000367453.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK095538.1, AL590365.14 and BX114172.1.
            On Nov 22, 2018 this sequence version replaced NM_001039844.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3370
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p13"
     gene            1..3370
                     /gene="ACBD7"
                     /gene_synonym="bA455B2.2"
                     /note="acyl-CoA binding domain containing 7"
                     /db_xref="GeneID:414149"
                     /db_xref="HGNC:HGNC:17715"
     CDS             49..315
                     /gene="ACBD7"
                     /gene_synonym="bA455B2.2"
                     /note="acyl-Coenzyme A binding domain containing 7"
                     /codon_start=1
                     /product="acyl-CoA-binding domain-containing protein 7"
                     /protein_id="NP_001034933.1"
                     /db_xref="CCDS:CCDS31153.1"
                     /db_xref="GeneID:414149"
                     /db_xref="HGNC:HGNC:17715"
                     /translation="MALQADFDRAAEDVRKLKARPDDGELKELYGLYKQAIVGDINIAC
                     PGMLDLKGKAKWEAWNLKKGLSTEDATSAYISKAKELIEKYGI"
     regulatory      3345..3350
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACBD7"
                     /gene_synonym="bA455B2.2"
                     /note="hexamer: ATTAAA"
     polyA_site      3370
                     /gene="ACBD7"
                     /gene_synonym="bA455B2.2"
                     /note="major polyA site"
ORIGIN
        1 agagcaccgg acgacaacag cagcagcaac aacgcggcag ccgccaccat ggccctgcag
       61 gctgattttg acagggctgc agaagatgtg aggaagctga aagcaagacc agatgatgga
      121 gaactgaaag aactctatgg gctttacaaa caagcaatag ttggagacat taatattgcg
      181 tgtccaggaa tgctagattt aaaaggcaaa gccaaatggg aagcatggaa cctcaaaaaa
      241 gggttgtcga cggaagatgc gacgagtgcc tatatttcta aagcaaagga gctgatagaa
      301 aaatacggaa tttagaatac agcatatgag gaatttttcc ttttgaagac ttccaaatgc
      361 tatcatgacc taacatttag agggagaggc atactgttaa cttgatgtat catgtatatt
      421 tttgctatta gcatgagctg tagtacttag aagtatactg aaactacata gttaactcaa
      481 ttgtacttgc ttaaaccagg tgtctttaaa agttcttttt aagaaaatgt ggcacatata
      541 caccatggaa tactatggag ccataaaaag ggatgagttc atgtcctttg cagggacatg
      601 gatgaagctg gaaaccatca ttctcagcaa actatcacaa gatcagaaaa ccaagcatgt
      661 tctcactcat aagtgggagt tgaacaatga gaacacatgg acacagggaa gggaacatca
      721 cacactgggg cctgtcgggg actagggggt taggggaggg ataacattag gagacatacc
      781 tgatgtaggt gaccggttga tgggtacagc aaaccaccat ggcacatgta tacctatgta
      841 acaaaactgc acgttctgca tatgtatccc agaacttaaa gtataaaaaa aaaaattctt
      901 ttagaaaagt attttttatt tttatagagt tagggagtac agttgcagtt tttgtttgtt
      961 tgtttgtttt ttcttgagga gtctcactct gtcacccagg ctggagtgca gtcgtgtgat
     1021 ctcggttcac tgcaacctcc gcctcctggg ttcaagtgat tctcttgcct cagcctcccg
     1081 agtagctggg attacaggtg cttgccacca tggctggcta atttttgtat ttttagtaga
     1141 gacggggttt tgccatgttg gccaggctgg tctcgaactc ctgacctcag gtgatctgcc
     1201 caccttggcg ctggggttgc aggtgtgagc caccacacct ggtcacaggt gcagttttgt
     1261 tacatggata tattgtgtag tggggaaatc tgggctttta gtgtaaccat caccaaaata
     1321 ctgtacattg tacccaaaag gtaattgctc atccctcacc ccctcccacc tttccaagcc
     1381 tccagtgtct attattccac actccatgac cctgtataca ccctgtttaa ctcccactta
     1441 taagtgaaaa catgtggtat ttttttttgt ttctgagggt tctttaaaaa tctttatttt
     1501 cttatttttt tctgagttgt ttcacttaag ataatagcct ccagttccac ccacgttgct
     1561 gcaaaagccg taatttcatt ctctttatat ggctgagtaa tatcccctgg tatacatata
     1621 caacgttttc tttatcccat catctgctga tggatactta ggttgattcc atatctttgc
     1681 tcttgtgaat tgtgctgcaa tagatataca agtgcaggta tcttttggat agaatgattt
     1741 attttccttt aagaagatac ccagtagtgg gattgctggg tagaatggta gttctatttt
     1801 tagttccatg agaaatttcc gtgctgtttt tcatagaggt tgtactaatt tacattccca
     1861 ccaatagtgt ataagcattc ccttttctcc acatctgttg ttttttgact ttttagaaag
     1921 tctagccctg gtaatatgtg tacagatttg aacagctgtt tgttcttttg gctcatctgt
     1981 tctgttacaa taagttaatg ttactggtga aataaaaaca ggttattaag aatcaatggc
     2041 aaggctgagc gtggtggctc acgcctctaa tctcagcact ttgggaggcc gaggtaggtg
     2101 gattactgag gtcagaagtt cgagaccagc ctgaccaaca ttgcaaaacc ccatctctac
     2161 taaaaataca aaaattagcc agccattggt ggtgcacacc tgtaattcca gctacttggg
     2221 aggctgaggc aggagaattg cttttaccca ggagatggag gttgcagtga gccaagatca
     2281 caccactgca ctccagcctg ggcgacaaaa caagactccg tctcaaaaaa aaaaaaaaaa
     2341 attacaagtc tgtccatagc agtttaaaga aatttaaaaa gcccccatag gaatatctat
     2401 ttttctttaa atttttacat ttaagacatt taagacaaaa aggcaaacta aaatgtatct
     2461 agtgataaac tgtaccacta ctgtacccca tatgttcagt tctatctgag taaaaataga
     2521 gtctggaata taatattggc cccctactca gtctttctgg atggtacaca ggctctttga
     2581 aagaagacag tctcatgtta acaattcaaa aaattgtttg agatccctta agataaatat
     2641 cccccaaaac agtgtacctc tattccctgc ataaaaattt agatttggaa tggtatgacc
     2701 agaggaatag atccacttca tgttactaca acaacaaaac tatctaggtc tgctagatga
     2761 atttccaggg aattatgctg agcagaaaaa gccagtcccc aaatgtgaca tgtataattc
     2821 catttatata acattctttt tcttttcttt tttttttttt ttttttttgt tgagacaggc
     2881 tgtcactctg ttacccaggc tggagcgcag tggcacgctc tcggctcact gcaacctctg
     2941 cctcccaggg tcaagcaatc ctcccatctc agcctccaga gtagctggga ctacaggtgc
     3001 gtgcaaccat gcccagctaa tttttgtatt tttcatagag acagggtttc accatgttgc
     3061 ccaggctggt ctggaactcc tgatctgagg tgatctaccc accttggccc cccaaagtgc
     3121 tgagactata ggcatgagcc accgcgtcca gccaggattc ttgaaaggga acatttatag
     3181 acgcaaagga tggaatagtg gttgccaggg aggagggagg tgggtgtggc tttaaaaggg
     3241 cagcaggagg gatgatcctg cagtgatgga atgttctgtc ttgattgtag caacaccaat
     3301 atgctgattg tgatattata ctatagtttt gcataacagt taccattaaa ggaaattggg
     3361 taaaaggcta
//
LOCUS       NM_001039845            2334 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens malate dehydrogenase 1B (MDH1B), transcript variant 1,
            mRNA.
ACCESSION   NM_001039845
VERSION     NM_001039845.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2334)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.580052.1,
            SRR1803616.222585.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374412.8/ ENSP00000363533.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK292378.1, BF979825.1 and AI076012.1.
            On Nov 22, 2018 this sequence version replaced NM_001039845.2.
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2334
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.3"
     gene            1..2334
                     /gene="MDH1B"
                     /gene_synonym="RP11-95H11"
                     /note="malate dehydrogenase 1B"
                     /db_xref="GeneID:130752"
                     /db_xref="HGNC:HGNC:17836"
     CDS             58..1614
                     /gene="MDH1B"
                     /gene_synonym="RP11-95H11"
                     /EC_number="1.1.1.-"
                     /note="isoform a is encoded by transcript variant 1;
                     putative malate dehydrogenase 1B; malate dehydrogenase 1B,
                     NAD (soluble)"
                     /codon_start=1
                     /product="putative malate dehydrogenase 1B isoform a"
                     /protein_id="NP_001034934.1"
                     /db_xref="CCDS:CCDS33365.1"
                     /db_xref="GeneID:130752"
                     /db_xref="HGNC:HGNC:17836"
                     /translation="MAKFVIAGRADCPYYAKTELVADYLQKNLPDFRIHKITQRPEVWE
                     DWLKDVCEKNKWSHKNSPIIWRELLDRGGKGLLLGGYNEFLEHAQLYYDVTSSMTTELM
                     MVIAQENLGAHIEKEQEEEALKTCINPLQVWITSASAPACYNLIPILTSGEVFGMHTEI
                     SITLFDNKQAEEHLKSLVVETQDLASPVLRSVSICTKVEEAFRQAHVIVVLDDSTNKEV
                     FTLEDCLRSRVPLCRLYGYLIEKNAHESVRVIVGGRTFVNLKTVLLMRYAPRIAHNIIA
                     VALGVEGEAKAILARKLKTAPSYIKDVIIWGNISGNNYVDLRKTRVYRYESAIWGPLHY
                     SRPVLNLIFDSEWVKREFVAILKNLTTTGRQFGGILAAHSIATTLKYWYHGSPPGEIVS
                     LGILSEGQFGIPKGIVFSMPVKFENGTWVVLTDLKDVEISEQIMTRMTSDLIQEKLVAL
                     GDKIHFQPYQSGHKDLVPDEEKNLAMSDAAEFPNQIPQTTFEKPQSLEFLNEFEGKTVE
                     S"
     regulatory      1655..1660
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MDH1B"
                     /gene_synonym="RP11-95H11"
                     /note="hexamer: AATAAA"
     polyA_site      1675
                     /gene="MDH1B"
                     /gene_synonym="RP11-95H11"
                     /note="major polyA site"
     regulatory      1824..1829
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MDH1B"
                     /gene_synonym="RP11-95H11"
                     /note="hexamer: AATAAT"
     polyA_site      1847
                     /gene="MDH1B"
                     /gene_synonym="RP11-95H11"
                     /note="major polyA site"
     regulatory      1884..1889
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MDH1B"
                     /gene_synonym="RP11-95H11"
                     /note="hexamer: AATAGA"
     polyA_site      1900
                     /gene="MDH1B"
                     /gene_synonym="RP11-95H11"
     regulatory      2244..2249
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MDH1B"
                     /gene_synonym="RP11-95H11"
                     /note="hexamer: AATAAA"
     polyA_site      2269
                     /gene="MDH1B"
                     /gene_synonym="RP11-95H11"
     regulatory      2316..2321
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MDH1B"
                     /gene_synonym="RP11-95H11"
                     /note="hexamer: AATGAA"
     polyA_site      2334
                     /gene="MDH1B"
                     /gene_synonym="RP11-95H11"
ORIGIN
        1 gcgtggttgc caggaaaccg cgaagccgcg gtccctgcct ctgagtctct ctcgaccatg
       61 gccaaattcg tcatcgcggg tagagcagat tgtccatatt atgctaaaac agaacttgtg
      121 gcagactatt tacaaaagaa tcttcctgat tttcggatac ataaaatcac acaacgtcct
      181 gaggtttggg aggattggct aaaagatgtg tgtgaaaaga ataagtggag tcacaagaat
      241 tcccctatca tctggagaga gctgttggat cgtggaggaa agggtttgct tttgggagga
      301 tataatgagt tcctggagca tgctcagctt tactatgatg tcacctctag catgacgact
      361 gaactgatga tggtaattgc tcaagagaac ctgggggcac atatagaaaa agagcaggag
      421 gaagaagccc tgaaaacttg catcaacccc ttgcaggtct ggatcaccag tgcctctgct
      481 cctgcctgct acaacctaat tcccatattg acgagtggcg aagtgtttgg gatgcataca
      541 gaaattagca taactctatt tgacaacaag caggcggaag aacatctcaa aagccttgtg
      601 gtggagaccc aagacctggc atctcccgtc ctgcgcagtg tctccatctg cacgaaggtg
      661 gaggaggcct tccgccaggc ccacgtcatt gtggtgctgg atgacagcac caacaaggag
      721 gtgttcactc tggaggactg cctccgaagc agggtgcctc tctgcaggct ctatgggtac
      781 ctgatagaga aaaatgctca tgagtctgtc agagtcatcg tgggagggag aacctttgta
      841 aacctgaaga cagttttact catgagatat gccccacgca ttgcacacaa cattattgct
      901 gtggcgctgg gggtggaagg tgaagcgaaa gccatactgg ccagaaaact gaagacagct
      961 ccttcataca ttaaagacgt gatcatttgg ggtaatatca gtggaaataa ttacgttgat
     1021 ctgagaaaaa caagggtgta cagatatgag agtgccattt ggggacctct tcattattca
     1081 cgccctgttt taaacttgat ttttgacagt gagtgggtaa aaagagaatt tgtggcaatt
     1141 cttaaaaact tgaccaccac aggaagacaa tttggaggca ttttggctgc acacagtata
     1201 gccactacac tgaaatactg gtaccatggc tcaccacctg gggagattgt atctttagga
     1261 atattgagtg aaggccagtt tggtattccg aaagggatcg tcttttctat gcctgtgaaa
     1321 tttgagaatg gaacttgggt ggttcttaca gatctcaaag atgttgaaat aagtgaacaa
     1381 ataatgaccc gaatgacaag tgatctaatt caggagaaac ttgttgcact tggagacaag
     1441 atacattttc agccatacca atcaggacat aaagatctgg tccctgatga agaaaaaaat
     1501 ctagctatgt cagatgcagc agagtttcca aatcagattc ctcaaaccac ctttgaaaag
     1561 ccacagagtc ttgagttcct aaatgaattt gaaggcaaaa ccgtggaatc ctaacagatc
     1621 aaattggatg aaatatataa ttacttgata gcacaataaa catagaaaga atttatatga
     1681 atgtctatat ttaaggaaga ataatttgaa agatttatgt cagtcttaga taataccatg
     1741 caaggcaatt aaatcactgt gacagcacag aggtcagagt tccgtcattt tgcattactt
     1801 gtatccactc atgtttgttt cataataatt gcattttctt agaactattt tggtgtcaaa
     1861 tgctattttt tatattacat taaaatagag ttgtcagtca ttgcatctgc ccatacatct
     1921 tctgagagaa cctgcttcct tccatcagcc atacctaaga cctgcaccta agtggccatg
     1981 tttgctcaaa tgtcctcatc accttggcct caactaatta ggccaaacag atgtacttca
     2041 ctcaaggaga accaatcata ttttctctct gtctctcaaa aaaaaattga actgagacca
     2101 gtgagtaagt tggtgtctgg gtcaggttaa tggtggtgaa ctatgtgcct gtgagctctt
     2161 cagagctggt tgggttcacc accttcataa gacctgcctc tgtaccattt ttccttgagt
     2221 gtgctttgta taaaggtctg tacaataaat cacacttttt taaagcttag attgaatagg
     2281 tttctgctcc ttgacaagag atatggcctg aataaaatga attttgaaag aaaa
//
LOCUS       NM_001039846             975 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens IZUMO family member 4 (IZUMO4), transcript variant 3,
            mRNA.
ACCESSION   NM_001039846
VERSION     NM_001039846.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 975)
  AUTHORS   Grayson P and Civetta A.
  TITLE     Positive Selection and the Evolution of izumo Genes in Mammals
  JOURNAL   Int J Evol Biol 2012, 958164 (2012)
   PUBMED   22957301
REFERENCE   2  (bases 1 to 975)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   3  (bases 1 to 975)
  AUTHORS   Ellerman DA, Pei J, Gupta S, Snell WJ, Myles D and Primakoff P.
  TITLE     Izumo is part of a multiprotein family whose members form large
            complexes on mammalian sperm
  JOURNAL   Mol Reprod Dev 76 (12), 1188-1199 (2009)
   PUBMED   19658160
REFERENCE   4  (bases 1 to 975)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ196310.1, SRR1163658.222766.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000395301.8/ ENSP00000378712.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX378854.2, BI827974.1, AW182303.1 and AC005328.1.
            On Jun 2, 2019 this sequence version replaced NM_001039846.1.
            Transcript Variant: This variant (3) encodes the longer protein
            (isoform 3).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..975
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..975
                     /gene="IZUMO4"
                     /gene_synonym="C19orf36; IMAGE:4215339"
                     /note="IZUMO family member 4"
                     /db_xref="GeneID:113177"
                     /db_xref="HGNC:HGNC:26950"
                     /db_xref="MIM:618897"
     CDS             32..730
                     /gene="IZUMO4"
                     /gene_synonym="C19orf36; IMAGE:4215339"
                     /note="isoform 3 precursor is encoded by transcript variant
                     3; izumo sperm-egg fusion protein 4; sperm 22 kDa protein
                     c113"
                     /codon_start=1
                     /product="izumo sperm-egg fusion protein 4 isoform 3
                     precursor"
                     /protein_id="NP_001034935.1"
                     /db_xref="CCDS:CCDS42458.1"
                     /db_xref="GeneID:113177"
                     /db_xref="HGNC:HGNC:26950"
                     /db_xref="MIM:618897"
                     /translation="MALLLCLVCLTAALAHGCLHCHSNFSKKFSFYRHHVNFKSWWVGD
                     IPVSGALLTDWSDDTMKELHLAIPAKITREKLDQVATAVYQMMDQLYQGKMYFPGYFPN
                     ELRNIFREQVHLIQNAIIESRIDCQHRCGIFQYETISCNNCTDSHVACFGYNCESSAQW
                     KSAVQGLLNYINNWHKQDTSMRPRSSAFSWPGTHRATPAFLVSPALRCLEPPHLANLTL
                     EDAAECLKQH"
     sig_peptide     32..82
                     /gene="IZUMO4"
                     /gene_synonym="C19orf36; IMAGE:4215339"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    101..103
                     /gene="IZUMO4"
                     /gene_synonym="C19orf36; IMAGE:4215339"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q1ZYL8.2); glycosylation site"
     misc_feature    686..688
                     /gene="IZUMO4"
                     /gene_synonym="C19orf36; IMAGE:4215339"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q1ZYL8.2); glycosylation site"
     regulatory      948..953
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IZUMO4"
                     /gene_synonym="C19orf36; IMAGE:4215339"
                     /note="hexamer: ATTAAA"
     polyA_site      975
                     /gene="IZUMO4"
                     /gene_synonym="C19orf36; IMAGE:4215339"
                     /note="major polyA site"
ORIGIN
        1 gttggttggc cggcggcggg ccgggacggg catggccctg ctgctgtgcc tggtgtgcct
       61 gacggcggcg ctggcccacg gctgtctgca ctgccacagc aacttctcca agaagttctc
      121 cttctaccgc caccatgtga acttcaagtc ctggtgggtg ggcgacatcc ccgtgtcagg
      181 ggcgctgctc accgactgga gcgacgacac gatgaaggag ctgcacctgg ccatccccgc
      241 caagatcacc cgggagaagc tggaccaagt ggcgacagca gtgtaccaga tgatggatca
      301 gctgtaccag gggaagatgt acttccccgg gtatttcccc aacgagctgc gaaacatctt
      361 ccgggagcag gtgcacctca tccagaacgc catcatcgaa agccgcatcg actgtcagca
      421 ccgctgtggc atcttccagt acgagaccat ctcctgcaac aactgcacag actcgcacgt
      481 cgcctgcttt ggctataact gcgagtcctc ggcgcagtgg aagtcagctg tccagggcct
      541 cctgaactac ataaataact ggcacaaaca ggacacgagc atgagaccac gctcctctgc
      601 cttctcctgg cctgggacac acagagccac cccggccttc ctggtatcgc cagccttaag
      661 gtgtctggag cccccacact tggccaacct gaccttggaa gatgctgctg agtgtctcaa
      721 gcagcactga cagcagctgg gcctgcccca gggcaacgtg ggggcggaga ctcagctgga
      781 cagcccctgc ctgtcactct ggagctgggc tgctgctgcc tcaggacccc ctctccgacc
      841 ccggacagag ctgagctggc cagggccagg agggcgggag ggagggaatg ggggtgggct
      901 gtgcgcagca tcagcgcctg ggcaggtccg cagagctgcg ggatgtgatt aaagtccctg
      961 atgtttctct ttgca
//
LOCUS       NM_001039876            1377 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens spectrin repeat containing nuclear envelope family
            member 4 (SYNE4), transcript variant 1, mRNA.
ACCESSION   NM_001039876
VERSION     NM_001039876.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1377)
  AUTHORS   Gurusaran M and Davies OR.
  TITLE     A molecular mechanism for LINC complex branching by structurally
            diverse SUN-KASH 6:6 assemblies
  JOURNAL   Elife 10, e60175 (2021)
   PUBMED   33393904
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1377)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1377)
  AUTHORS   Horn HF, Brownstein Z, Lenz DR, Shivatzki S, Dror AA,
            Dagan-Rosenfeld O, Friedman LM, Roux KJ, Kozlov S, Jeang KT, Frydman
            M, Burke B, Stewart CL and Avraham KB.
  TITLE     The LINC complex is essential for hearing
  JOURNAL   J Clin Invest 123 (2), 740-750 (2013)
   PUBMED   23348741
  REMARK    GeneRIF: progressive high-frequency hearing loss in 2 families of
            Iraqi Jewish ancestry was due to homozygosity for mutation SYNE4
            c.228delAT. SYNE4, a gene not previously associated with hearing
            loss, encodes nesprin-4, a protein expressed in outer hair cells.
REFERENCE   4  (bases 1 to 1377)
  AUTHORS   Roux KJ, Crisp ML, Liu Q, Kim D, Kozlov S, Stewart CL and Burke B.
  TITLE     Nesprin 4 is an outer nuclear membrane protein that can induce
            kinesin-mediated cell polarization
  JOURNAL   Proc Natl Acad Sci U S A 106 (7), 2194-2199 (2009)
   PUBMED   19164528
REFERENCE   5  (bases 1 to 1377)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Schaefer,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301607
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279839.2906.1, SRR3476690.125856.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2159080
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000324444.9/ ENSP00000316130.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC002116.1, BC038360.1,
            BC052573.1, AF038458.1 and AA991508.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001039876.2.
            Summary: This gene is a member of the nesprin family of genes, that
            encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing
            proteins. In addition to the KASH domain, this protein also
            contains a coiled-coil and leucine zipper region, a spectrin
            repeat, and a kinesin-1 binding region. This protein localizes to
            the outer nuclear membrane, and is part of the linker of
            nucleoskeleton and cytoskeleton (LINC) complex in the nuclear
            envelope. LINC complexes are formed by SUN (Sad1, UNC-84)-KASH
            pairs, and are thought to mechanically couple nuclear components to
            the cytoskeleton. Mutations in this gene have been associated with
            progressive high-frequency hearing loss. The absence of this
            protein in mice also caused hearing loss, and changes in hair cell
            morphology in the ears. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Aug 2015].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1377
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..1377
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /note="spectrin repeat containing nuclear envelope family
                     member 4"
                     /db_xref="GeneID:163183"
                     /db_xref="HGNC:HGNC:26703"
                     /db_xref="MIM:615535"
     misc_feature    106..108
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /note="upstream in-frame stop codon"
     CDS             133..1347
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     nesprin-4; nuclear envelope spectrin repeat protein 4;
                     deafness, autosomal recessive 76; KASH domain-containing
                     protein 4"
                     /codon_start=1
                     /product="nesprin-4 isoform 1"
                     /protein_id="NP_001034965.1"
                     /db_xref="CCDS:CCDS42553.1"
                     /db_xref="GeneID:163183"
                     /db_xref="HGNC:HGNC:26703"
                     /db_xref="MIM:615535"
                     /translation="MALSLPLGPRLGSEPLNHPPGAPREADIVGCTVCPASGEESTSPE
                     QAQTLGQDSLGPPEHFQGGPRGNEPAAHPPRWSTPSSYEDPAGGKHCEHPISGLEVLEA
                     EQNSLHLCLLGLGRRLQDLEQGLGHWALAQSGMVQLQALQVDLRGAAERVEALLAFGEG
                     LAQRSEPRAWAALEQILRALGAYRDSIFRRLWQLQAQLVSYSLVFEEANTLDQDLEVEG
                     DSDWPGPGGVWGPWAPSSLPTSTELEWDPAGDIGGLGPLGQKTARTLGVPCELCGQRGP
                     QGRGQGLEEADTSHSRQDMLESGLGHQKRLARHQRHSLLRKPQDKKRQASPHLQDVRLE
                     GNPGAPDPASRQPLTFLLILFLLFLLLVGAMFLLPASGGPCCSHARIPRTPYLVLSYVN
                     GLPPV"
     misc_feature    133..405
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N205.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    961..1173
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N205.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1198..1260
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N205.2);
                     transmembrane region"
     regulatory      1355..1360
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /note="hexamer: AATAAA"
     polyA_site      1377
                     /gene="SYNE4"
                     /gene_synonym="C19orf46; DFNB76; KASH4; Nesp4"
                     /note="major polyA site"
ORIGIN
        1 agacctgtcc tgggcctctc ctgcagcctc aggcccgggt gactccagcg gaggagctct
       61 gggacaccct tgtctaggga agaggtctta ctggctgccc tcacctgact ttgtgtcccc
      121 aggcccccag ccatggccct gtccctgcct ctgggcccta gacttggctc agagcccctc
      181 aaccacccac cgggagcacc tagagaggcg gacattgttg gatgcaccgt ctgccccgcg
      241 tccggagagg agagcacgag cccagagcag gcccagaccc tgggacagga ctccttgggc
      301 cctcctgagc acttccaggg tgggccaagg ggcaatgagc ctgccgctca ccccccgaga
      361 tggtcaacac cctcttccta cgaggaccca gctgggggca aacactgtga gcaccccatt
      421 tctggcctgg aggtactaga ggctgagcag aacagcctgc acctgtgcct gctggggctg
      481 ggccgccggc tgcaggacct ggagcaaggc ctggggcact gggcattggc ccagagtggg
      541 atggtgcagc tgcaggccct ccaggtggac ctacgagggg cagctgagcg tgtggaggcg
      601 ctgctagcgt ttggtgaggg gctggcacag cggagtgagc ccagggcctg ggcagccctg
      661 gagcagatcc tgcgggccct gggagcttac cgagactcca tcttccggcg gctctggcag
      721 ctgcaggccc agctggtcag ctacagcctg gtgttcgagg aggccaacac gctggaccag
      781 gacttggagg tcgagggaga ctcggactgg ccaggacctg gtggggtctg ggggccctgg
      841 gcacccagta gcctccccac ttccacagag ttggagtggg atccggcggg ggacattggg
      901 ggccttgggc ccttgggaca aaagacagcc cggacactag gagtgccctg tgagctgtgt
      961 ggccagaggg ggccccaggg caggggacaa ggccttgagg aagcagacac ctctcactcc
     1021 cgacaggaca tgctggagtc tggcctcggc caccagaaac gcttagcacg tcaccaaaga
     1081 cactccctgc tccggaagcc tcaggacaag aagaggcaag catctcctca tctccaggat
     1141 gtgaggctgg aggggaatcc aggggccccc gatcctgcat ccaggcagcc tctgaccttc
     1201 ctccttatcc tcttcctcct cttcctcctc ctggtgggtg ccatgtttct cctgcccgcg
     1261 tcaggaggcc cctgctgctc tcatgcccga atacccagga caccctacct ggtgctcagc
     1321 tatgtcaatg gtcttccccc agtctgatgt gtgtaataaa tggtcactgt caaagga
//
LOCUS       NM_001039886            3585 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens zinc finger protein 808 (ZNF808), transcript variant 1,
            mRNA.
ACCESSION   NM_001039886
VERSION     NM_001039886.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3585)
  AUTHORS   Alqahtani MA, Al-Qahtani SM, Al-Falki YH, Alharby E, Albulym OM and
            Almontashiri NAM.
  TITLE     Biallelic loss of function variant in ZNF808 is associated with
            non-syndromic neonatal diabetes
  JOURNAL   Clin Genet 104 (4), 497-498 (2023)
   PUBMED   37308312
  REMARK    GeneRIF: Biallelic loss of function variant in ZNF808 is associated
            with non-syndromic neonatal diabetes.
REFERENCE   2  (bases 1 to 3585)
  AUTHORS   Tsuritani K, Irie T, Yamashita R, Sakakibara Y, Wakaguri H, Kanai A,
            Mizushima-Sugano J, Sugano S, Nakai K and Suzuki Y.
  TITLE     Distinct class of putative 'non-conserved' promoters in humans:
            comparative studies of alternative promoters of human and mouse
            genes
  JOURNAL   Genome Res 17 (7), 1005-1014 (2007)
   PUBMED   17567985
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.95924.1,
            SRR7346977.1846856.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000359798.9/ ENSP00000352846.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DW462787.1, DA094254.1, CR749856.1, BC130353.1 and AC022150.6.
            On May 17, 2019 this sequence version replaced NM_001039886.3.
FEATURES             Location/Qualifiers
     source          1..3585
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     gene            1..3585
                     /gene="ZNF808"
                     /note="zinc finger protein 808"
                     /db_xref="GeneID:388558"
                     /db_xref="HGNC:HGNC:33230"
     misc_feature    157..159
                     /gene="ZNF808"
                     /note="upstream in-frame stop codon"
     CDS             166..2877
                     /gene="ZNF808"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="zinc finger protein 808 isoform 1"
                     /protein_id="NP_001034975.2"
                     /db_xref="CCDS:CCDS46167.1"
                     /db_xref="GeneID:388558"
                     /db_xref="HGNC:HGNC:33230"
                     /translation="MLREEAAQKRKGKESGMALPQGRLTFRDVAIEFSLAEWKFLNPAQ
                     RALYREVMLENYRNLEAVDISSKHMMKEVLSTGQGNREVIHTGTLQRHQSYHIGDFCFQ
                     EIEKEIHNIEFQCQEDERNGHEAPTTKIKKLTGSTDQHDHRHAGNKPIKDQLGSSFYSH
                     LPELHIFQIKGEIANQLEKSTSDASSVSTSQRISCRPQIHISNNYGNNPLNSSLLPQKQ
                     EVHMREKSFPCNESGKAFNCSSLLRKHQIPHLGDKQYKCDVCGKLFNHKQYLACHRRCH
                     TGEKPYKCKECGKSFSYKSSLTCHHRLHTGVKPYKCNECGKVFRQNSALVIHKAIHTGE
                     KPYKCNECGKAFNQQSHLSRHQRLHTGVKPYKCKICEKAFACHSYLANHTRIHSGEKTY
                     KCNECGKAFNHQSSLARHHILHTGEKPYKCEECDKVFSQKSTLERHKRIHTGEKPYKCK
                     VCDTAFTCNSQLARHRRIHTGEKTYKCNECRKTFSRRSSLLCHRRLHSGEKPYKCNQCG
                     NTFRHRASLVYHRRLHTLEKSYKCTVCNKVFMRNSVLAVHTRIHTAKKPYKCNECGKAF
                     NQQSHLSRHRRLHTGEKPYKCEACDKVFGQKSALESHKRIHTGEKPYRCQVCDTAFTWN
                     SQLARHTRIHTGEKTYKCNECGKTFSYKSSLVWHRRLHGGEKSYKCKVCDKAFVCRSYV
                     AKHTRIHSGMKPYKCNECSKTFSNRSSLVCHRRIHSGEKPYKCSECSKTFSQKATLLCH
                     RRLHSGEKPYKCNDCGNTFRHWSSLVYHRRLHTGEKSYKCTVCDKAFVRNSYLARHIRI
                     HTAEKPYKCNECGKAFNEQSHLSRHHRIHTGEKPYKCEACDKVFSRKSHLKRHRIIHTG
                     EKPYKCNECGKAFSDRSTLIHHQAIHGIGKFD"
     misc_feature    526..627
                     /gene="ZNF808"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4W9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 aaacccggaa gcggatcggg tggagtgaag gtcacgtcgc catgatatct cttccaaatg
       61 cttgatgaaa aaggtggaag ggtcacttga cccagggagt tgaaggctgc agtgagccct
      121 gtttttgcca ccacactcca gcctgggatt gatttctaaa gactcatgtt acgtgaggaa
      181 gcagctcaga agaggaaagg aaaggagtca ggcatggctc ttcctcaggg acgcttgact
      241 ttcagggatg tggctataga attctcattg gcagagtgga aattcctgaa ccctgcacag
      301 agggctttgt acagggaagt gatgttggag aactacagga acctggaggc tgtggatatc
      361 tcttccaaac acatgatgaa ggaggtcttg tcaacagggc aaggcaatag agaagtgatc
      421 cacacaggga cattgcaaag acatcaaagt tatcacattg gagacttttg cttccaggaa
      481 attgagaaag aaattcataa cattgagttt cagtgtcaag aagatgaaag aaatggccat
      541 gaagcaccca cgacaaaaat aaaaaagttg actggtagca cagaccaaca tgatcacagg
      601 catgctggaa acaagcctat taaagatcag cttggatcaa gcttttattc acatctgcct
      661 gaactccaca tatttcagat caaaggtgaa attgctaatc aacttgagaa gtctaccagt
      721 gatgcttcct cagtttcaac atcccaaaga atttcctgta ggccccaaat ccatatttct
      781 aataactatg ggaataatcc cctgaattct tcattactcc cacaaaaaca ggaagtacac
      841 atgagagaaa aatctttccc atgtaatgag agtggcaaag cctttaattg tagctcactc
      901 ttaaggaaac accagatacc ccatttagga gacaaacaat ataaatgtga tgtatgtggc
      961 aagctcttta atcacaagca ataccttgca tgccatcgta gatgtcacac tggagagaaa
     1021 ccttacaagt gtaaagagtg tggaaagtcc ttcagttaca agtcatccct tacatgccat
     1081 catagacttc atactggagt aaaaccttac aagtgtaatg agtgtggcaa ggtctttcgt
     1141 caaaattcag cccttgtaat tcataaggca attcatactg gagagaaacc ttacaagtgt
     1201 aatgaatgtg gcaaggcttt taatcaacaa tcacaccttt cacgccatca aagacttcat
     1261 actggagtga aaccttacaa atgtaagatt tgtgagaagg cttttgcgtg tcattcctat
     1321 ctggcaaacc atactagaat tcatagtgga gagaaaacat acaagtgtaa tgagtgtggt
     1381 aaggctttta atcatcaatc aagccttgca cgtcatcata tacttcatac tggagagaaa
     1441 ccttacaaat gtgaagaatg tgacaaagtt ttcagtcaga aatcaaccct tgagagacat
     1501 aagagaattc atactggaga gaaaccatac aaatgtaagg tttgtgatac agctttcacg
     1561 tgtaattcac agctggcacg acatagaaga attcacactg gagagaaaac ttacaagtgt
     1621 aatgagtgtc gcaagacctt cagccgcagg tcatcccttc tatgccatcg tagacttcat
     1681 agtggtgaaa aaccttacaa gtgtaatcag tgtggcaata ccttccgtca ccgggcatcc
     1741 cttgtatacc atcgtagact tcacactcta gagaaatctt acaaatgtac ggtttgtaac
     1801 aaggttttca tgcgtaattc agtcctggct gtacatacta gaattcacac tgcaaagaaa
     1861 ccttacaagt gtaatgaatg tgggaaagct tttaatcaac aatcacatct ttcacgtcat
     1921 cgtagacttc atactggaga gaaaccttac aaatgtgaag catgtgacaa agtttttggt
     1981 cagaaatcag ctcttgagtc acataagaga attcatactg gagagaaacc atacagatgt
     2041 caggtttgtg acacagcttt cacgtggaat tcacagctgg cacgacatac aagaattcac
     2101 actggagaaa aaacttacaa gtgtaatgag tgtgggaaga ccttcagtta caagtcatca
     2161 cttgtatggc atcgtagact tcatggtgga gagaaatctt acaaatgtaa ggtttgtgac
     2221 aaggctttcg tgtgtcgttc ctatgtggca aaacatacta gaattcacag tggaatgaaa
     2281 ccttacaagt gtaatgagtg cagcaagacc ttcagtaaca ggtcatccct tgtatgccat
     2341 cgtagaattc atagtggtga gaaaccttac aagtgtagtg agtgcagcaa gacgttcagt
     2401 cagaaggcaa cccttctatg ccatcgtaga cttcatagtg gtgagaaacc ttacaagtgt
     2461 aacgactgtg gcaatacctt ccgtcactgg tcatcccttg tataccatcg tagacttcat
     2521 actggagaga aatcttacaa atgtacggtt tgtgacaagg ctttcgtgcg taattcatac
     2581 ctggcaagac atattagaat tcacactgca gagaaacctt acaagtgtaa tgaatgtgga
     2641 aaggctttta atgaacaatc acacctttca cgtcatcata gaattcatac tggagagaaa
     2701 ccttacaaat gtgaagcatg tgacaaagtt ttcagtcgca aatcacacct taaaagacat
     2761 aggataattc atactggaga gaaaccttac aagtgtaatg agtgtggcaa agcctttagt
     2821 gaccggtcaa cacttattca ccatcaggca attcatggta tagggaaatt tgattaatat
     2881 aatgattgtc acaaagtctt cagtaacact acaacaattg caaatcattg gagaatccat
     2941 gatgaagaga aatcttctga gtgtaataaa tgtggcatgt ttttcagaca ttgttcatac
     3001 attgcagttc attggcaacc tcatactgga gagaaacctt acaaatgtca tgattgaggc
     3061 aaggtcttca gtcaagcttc atcctatgca aaacaggaga attcatacag gagagaaacc
     3121 tcacaagtgt gatgattgtg gcaaagcctt tacttcacat tcacacctcg ttggacatca
     3181 gagaatccat actggacaga aatcttgcaa atgtcatcag tgtggcaagg tcttcagtcc
     3241 gaggtcactc cttgcagaac atgagaaaat tcatttttga gataactgtt cccaatgcag
     3301 tgagtatagc aaaccatcaa gcattaattg acattggagt caattcagca ttgacttgag
     3361 tttgtgttga cttaacattg agttcaagcc ttaattgaca ttcaagtgtt tatgttaaga
     3421 ggatggggcc aggtgtggtg gctcaggcct gtaatcccag cacgttggaa gaccaaggca
     3481 cataggtcac ttgaggtcag aagtttgaaa ccaccatggc caacagatgt cggccacttt
     3541 cgccatcctg ttttttgttt cttattttct tatttattta tttat
//
LOCUS       NM_001039888            3607 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.
ACCESSION   NM_001039888
VERSION     NM_001039888.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3607)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (bases 1 to 3607)
  AUTHORS   Barbe L, Lundberg E, Oksvold P, Stenius A, Lewin E, Bjorling E,
            Asplund A, Ponten F, Brismar H, Uhlen M and Andersson-Svahn H.
  TITLE     Toward a confocal subcellular atlas of the human proteome
  JOURNAL   Mol Cell Proteomics 7 (3), 499-508 (2008)
   PUBMED   18029348
REFERENCE   3  (bases 1 to 3607)
  AUTHORS   Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R,
            Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T,
            Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K,
            Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T,
            Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T
            and Sugano S.
  TITLE     Diversification of transcriptional modulation: large-scale
            identification and characterization of putative alternative
            promoters of human genes
  JOURNAL   Genome Res 16 (1), 55-65 (2006)
   PUBMED   16344560
REFERENCE   4  (bases 1 to 3607)
  AUTHORS   Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R,
            Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine
            M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J,
            Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K,
            Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T,
            Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi
            T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato
            K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H,
            Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S,
            Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta
            T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO,
            Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N,
            Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y,
            Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H,
            Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A,
            Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T,
            Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai
            A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H,
            Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M,
            Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y,
            Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K,
            Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M,
            Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano
            J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T,
            Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T,
            Nakamura Y, Ohara O, Isogai T and Sugano S.
  TITLE     Complete sequencing and characterization of 21,243 full-length human
            cDNAs
  JOURNAL   Nat Genet 36 (1), 40-45 (2004)
   PUBMED   14702039
REFERENCE   5  (bases 1 to 3607)
  AUTHORS   Bonaldo MF, Lennon G and Soares MB.
  TITLE     Normalization and subtraction: two approaches to facilitate gene
            discovery
  JOURNAL   Genome Res 6 (9), 791-806 (1996)
   PUBMED   8889548
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK128050.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142348,
            SAMEA2153946 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000606888.3/ ENSP00000475189.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK128050.1, AC243547.1, DA081864.1 and BM723295.1.
            On Nov 22, 2018 this sequence version replaced NM_001039888.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3607
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.1"
     gene            1..3607
                     /gene="ANKRD34A"
                     /gene_synonym="ANKRD34"
                     /note="ankyrin repeat domain 34A"
                     /db_xref="GeneID:284615"
                     /db_xref="HGNC:HGNC:27639"
     misc_feature    1229..1231
                     /gene="ANKRD34A"
                     /gene_synonym="ANKRD34"
                     /note="upstream in-frame stop codon"
     CDS             1289..2779
                     /gene="ANKRD34A"
                     /gene_synonym="ANKRD34"
                     /note="ankyrin repeat domain 34"
                     /codon_start=1
                     /product="ankyrin repeat domain-containing protein 34A"
                     /protein_id="NP_001034977.1"
                     /db_xref="CCDS:CCDS72874.1"
                     /db_xref="GeneID:284615"
                     /db_xref="HGNC:HGNC:27639"
                     /translation="MLHTEGHALLRAVGQGKLRLARLLLEGGAYVNEGDAQGETALMAA
                     CRARYDDPQNKARMVRYLLEQGADPNIADRLGRTALMHACAGGGGAAVASLLLAHGADP
                     SVRDHAGASALVHALDRGDRETLATLLDACKAKGTEVIIITTDTSPSGTKKTRQYLNSP
                     PSPGVEDPAPASPSPGFCTSPSEIQLQTAGGGGRGMLSPRAQEEEEKRDVFEFPLPKPP
                     DDPSPSEPLPKPPRHPPKPLKRLNSEPWGLVAPPQPVPPTEGRPGIERLTAEFNGLTLT
                     GRPRLSRRHSTEGPEDPPPWAEKVTSGGPLSRRNTAPEAQESGPPSGLRQKLSRMEPVE
                     LDTPGHLCPDSPESSRLSLERRRYSASPLTLPPAGSAPSPRQSQESLPGAVSPLSGRRR
                     SPGLLERRGSGTLLLDHISQTRPGFLPPLNVSPHPPIPDIRPQPGGRAPSLPAPPYAGA
                     PGSPRTKRKLVRRHSMQTEQIRLLGGFQSLGGPGEPGR"
     misc_feature    1298..1387
                     /gene="ANKRD34A"
                     /gene_synonym="ANKRD34"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YU3.2);
                     Region: ANK 1"
     misc_feature    1331..1333
                     /gene="ANKRD34A"
                     /gene_synonym="ANKRD34"
                     /note="N5-methylglutamine.
                     /evidence=ECO:0000269|PubMed:26797129; propagated from
                     UniProtKB/Swiss-Prot (Q69YU3.2); methylation site"
     misc_feature    1397..1504
                     /gene="ANKRD34A"
                     /gene_synonym="ANKRD34"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YU3.2);
                     Region: ANK 2"
     misc_feature    1514..1606
                     /gene="ANKRD34A"
                     /gene_synonym="ANKRD34"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YU3.2);
                     Region: ANK 3"
     misc_feature    1616..1705
                     /gene="ANKRD34A"
                     /gene_synonym="ANKRD34"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YU3.2);
                     Region: ANK 4"
     misc_feature    1727..2707
                     /gene="ANKRD34A"
                     /gene_synonym="ANKRD34"
                     /note="propagated from UniProtKB/Swiss-Prot (Q69YU3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2234..2236
                     /gene="ANKRD34A"
                     /gene_synonym="ANKRD34"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q5BJT1; propagated from
                     UniProtKB/Swiss-Prot (Q69YU3.2); phosphorylation site"
     regulatory      3059..3064
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKRD34A"
                     /gene_synonym="ANKRD34"
                     /note="hexamer: AATAAA"
     polyA_site      3086
                     /gene="ANKRD34A"
                     /gene_synonym="ANKRD34"
     regulatory      3588..3593
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKRD34A"
                     /gene_synonym="ANKRD34"
                     /note="hexamer: AATAAA"
     polyA_site      3607
                     /gene="ANKRD34A"
                     /gene_synonym="ANKRD34"
                     /note="major polyA site"
ORIGIN
        1 acgcccggaa ccgaagcttg cgaagcgggt cgcagagaga gatgggcgtt gcagaatcag
       61 ctggggtcac ttatttccgg tctcactcca gatgaaggag ccactagccg gcgagagttc
      121 accgagggaa cgtgacactc atatctcatc gagggaccgt gttgagggag cccctacaga
      181 gaggccaaag gaggagaggg cctacggaga aatgaacctc tgtaaaagct gctctttagg
      241 gatcagtctt tttgtgactc tagcttcata gcttggtctc tccattactc cagccttcct
      301 ttcaatcata cactgcctct ctccagcacc accaatggat acttcttttc taaaaatgtt
      361 tttctgtggg ttgctgccgt gtctgtgaga agctggacac aaactcattc ctaaaatatg
      421 tggatggaag ctatggtaac catggagaca gggcaggtgg caaggagagg cagagacagt
      481 gtgagagacc aatagacaga taggaagaga gaagatataa ggaatgtttc agacagagat
      541 cgtcaagcaa gatggaaaaa ataagacgtc taagcaagac tgagattaaa gagatgcaat
      601 gtgagagagt gtattacaag tgtgccatgt gccgtgtatg gcaggtcagg tctggcgcac
      661 aggagcgcac aaacacacca agtgcggaga atggggatct gctgaatctc agcgaagaat
      721 ctggatgatg gtccctgtct gggtcgcgga ggagtcccct aaggaacact taggtttgtt
      781 ggggctgagg ggaggtcggc tgagaaaagg aagtcaggat tggagcctct aggtttttga
      841 gggtttatgt gtgcatgagt gggggagcag tttggtgcct gacgccccca cccgcagtga
      901 ctaggctata aatagcacag cagagctccg cccccccccc cccccccccc cccgccaagc
      961 ttctctcctc ccgagccggc gctgtgcccg gggcgctccg ggaggaggga ccaggatccg
     1021 gcgccggggc gcagatactg acaccaaggg aatccgggtg cccccccccc cacgccatgc
     1081 gggcccccag gaaactggct ccgccacctc ggctgccccg tggccacggc cccaatcctg
     1141 gccaggcgga gattctgcgg acattcaggg atcggcttcg tcactgagac ctcaggcctc
     1201 tgccagccac tccccctccc cataccccta gtcatcctcg gcaggtctca gtcccggctc
     1261 catctgtgcc ctcgccccag ccgcagctat gttgcacacc gagggccacg ctcttcttcg
     1321 ggcggtgggt cagggtaagc tacgcttggc ccgtttgctt ctggagggag gcgcctacgt
     1381 gaatgagggt gatgcgcagg gggagactgc gctaatggca gcctgtcggg cccgctacga
     1441 cgacccccag aacaaggcac gcatggtacg ctacctcctg gagcaaggcg cggaccccaa
     1501 tatcgcagac cgattagggc gcacggcgct catgcacgct tgcgccgggg gtgggggcgc
     1561 cgcggtggcc tcgctgctcc ttgcccacgg cgcagacccc tcagtccgag atcacgcggg
     1621 cgcctcggct cttgtccacg ccctggaccg cggggaccgc gagacccttg ccacactgct
     1681 ggacgcctgc aaggccaagg gtacggaggt catcatcatc accaccgata cctcgccctc
     1741 aggcaccaag aagacccggc agtatctcaa ttctccacca tccccagggg tggaggaccc
     1801 tgctcccgcc tctcctagcc cggggttctg cacgtcgcct tcggaaatcc aactgcagac
     1861 cgctggagga ggagggcgtg ggatgttatc ccctcgcgcc caggaagaag aggagaagcg
     1921 ggacgtattt gaattccctc ttcctaagcc ccccgatgac ccatcccctt ccgagccgct
     1981 ccccaaacca ccacgccatc ccccaaaacc actcaaaagg ctcaactccg agccctgggg
     2041 cctagtggcc cctcctcaac cagtcccacc cactgaaggg agaccgggga tcgagcgctt
     2101 gactgccgaa ttcaatggcc tgaccctgac cggtcgaccc cgtctttccc gacgtcacag
     2161 caccgaaggc cctgaggacc cgcccccatg ggcggagaaa gtgactagcg ggggtcctct
     2221 ctctcgccga aacacagcac cagaagctca ggagtctggt cccccttcag ggctgaggca
     2281 gaaactgagc cgcatggagc cagtggagct ggacacccct ggacaccttt gccctgactc
     2341 gcctgagtcc agccgcctgt ccctggagcg ccgccgatac agcgcctccc cgttgaccct
     2401 ccctccagcc ggctcggctc cctctccgcg ccagtcccag gagagtctgc caggggcagt
     2461 atctccgcta agcggaagga ggcggagtcc ggggctgctg gagcggaggg gctcggggac
     2521 gttgctcctg gaccacatct cgcaaacgcg gccgggtttc ctaccccctc tcaacgtcag
     2581 tccccaccct cccatccctg acattcgccc acaacccgga ggtcgggcgc cttcgttgcc
     2641 tgcccctcct tatgccgggg cgccaggctc tcccaggacc aagcgcaaat tggtgagacg
     2701 ccactccatg cagactgagc agatccgcct gctggggggc ttccagagtc taggtgggcc
     2761 tggggagcca gggcgctgag aggagtgaga ggagccaagg agggtgggga ttaggacctt
     2821 aatgggatag gtgggagaac cagctcacac acacaccacg aacaaaggga tctcttgcat
     2881 gtgctcatgg gtgcacagtg cacccacaca tggttaaaca tgtgtccata agcacagtac
     2941 tcttattagc aagaaagaat aagtactcta tttactgggt atatacacac atgtattcat
     3001 gccctggtca tttcacatgc atatgggatt acttgtgtac ctacaggcac agcatatcaa
     3061 taaacacaca gggctagggt cccaaactct cttgcatttg ttcagaagca gtagggaacc
     3121 cttacttatg ggcagtctcc gatgtctttg ccctcctgca gaagcaatcc cttgctttcc
     3181 atgtatgccc tgaaacacag cctatcatga ttttgcacac tctctccgtg gacatcccag
     3241 cccattctgc aggtcttgct tctttctcca ggcctggctc cttattcaca ccctgcttct
     3301 aaccccaacc acttttcagg atatcttttt cactcttctt gggggttcct gcagcaaccc
     3361 ccagcctcag ttctgctgct gtctttactg ctctcaactt cacttctcaa cttcctgctt
     3421 tttattccca ccctgttcct ccaacaacta caacagattg tctcattttc ccagggggtg
     3481 ggtcatgggc tctaagctgc tcttctgtct gtctgagctt atgaacaccc ccacaggtag
     3541 aagtggggag aaaccctaaa tcactcctct ctccacttga catatcaaat aaatgtgttc
     3601 agaagtc
//
LOCUS       NM_001039958            1640 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens mesoderm posterior bHLH transcription factor 2 (MESP2),
            mRNA.
ACCESSION   NM_001039958
VERSION     NM_001039958.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1640)
  AUTHORS   Zhang E, Yang J, Liu Y, Hong N, Xie H, Fu Q, Li F, Chen S, Yu Y and
            Sun K.
  TITLE     MESP2 variants contribute to conotruncal heart defects by inhibiting
            cardiac neural crest cell proliferation
  JOURNAL   J Mol Med (Berl) 98 (7), 1035-1048 (2020)
   PUBMED   32572506
  REMARK    GeneRIF: MESP2 variants contribute to conotruncal heart defects by
            inhibiting cardiac neural crest cell proliferation.
REFERENCE   2  (bases 1 to 1640)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S, Das
            PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A, Ginno
            PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of human
            transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   3  (bases 1 to 1640)
  AUTHORS   Qiu XS, Zhou S, Jiang H, Ji ML, Ding Q, Lv F, Liu Z, Tang N, Cheng
            JC and Qiu Y.
  TITLE     Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients
            with congenital scoliosis
  JOURNAL   Stud Health Technol Inform 176, 52-55 (2012)
   PUBMED   22744456
  REMARK    GeneRIF: MESP2, HES7 and DUSP6 genes may not be involved in the
            etiopathogenesis of sporadic and non-syndromic CS in Chinese Han
            population.
REFERENCE   4  (bases 1 to 1640)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   5  (bases 1 to 1640)
  AUTHORS   Morimoto M, Kiso M, Sasaki N and Saga Y.
  TITLE     Cooperative Mesp activity is required for normal somitogenesis along
            the anterior-posterior axis
  JOURNAL   Dev Biol 300 (2), 687-698 (2006)
   PUBMED   16996494
  REMARK    GeneRIF: Mesp1 is down-regulated in the later stages of development
            by increasing levels of Mesp2 in the wild-type embryo.
REFERENCE   6  (bases 1 to 1640)
  AUTHORS   Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie
            SL and Turnpenny PD.
  TITLE     Mutated MESP2 causes spondylocostal dysostosis in humans
  JOURNAL   Am J Hum Genet 74 (6), 1249-1254 (2004)
   PUBMED   15122512
  REMARK    GeneRIF: Mutated MESP2 causes spondylocostal dysostosis
REFERENCE   7  (bases 1 to 1640)
  AUTHORS   McLellan AS, Langlands K and Kealey T.
  TITLE     Exhaustive identification of human class II basic helix-loop-helix
            proteins by virtual library screening
  JOURNAL   Mech Dev 119 Suppl 1, S285-S291 (2002)
   PUBMED   14516699
REFERENCE   8  (bases 1 to 1640)
  AUTHORS   Haraguchi S, Kitajima S, Takagi A, Takeda H, Inoue T and Saga Y.
  TITLE     Transcriptional regulation of Mesp1 and Mesp2 genes: differential
            usage of enhancers during development
  JOURNAL   Mech Dev 108 (1-2), 59-69 (2001)
   PUBMED   11578861
REFERENCE   9  (bases 1 to 1640)
  AUTHORS   Turnpenny,P.D., Sloman,M. and Dunwoodie,S.
  TITLE     Spondylocostal Dysostosis, Autosomal Recessive
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301771
REFERENCE   10  (bases 1 to 1640)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301533
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC111413.1, SRR1803613.386327.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000341735.5/ ENSP00000342392.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079075.6.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 31, 2018 this sequence version replaced NM_001039958.1.
            Summary: This gene encodes a member of the bHLH family of
            transcription factors and plays a key role in defining the
            rostrocaudal patterning of somites via interactions with multiple
            Notch signaling pathways. This gene is expressed in the anterior
            presomitic mesoderm and is downregulated immediately after the
            formation of segmented somites. This gene also plays a role in the
            formation of epithelial somitic mesoderm and cardiac mesoderm.
            Mutations in the MESP2 gene cause autosomal recessive
            spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1640
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     gene            1..1640
                     /gene="MESP2"
                     /gene_synonym="bHLHc6; SCDO2"
                     /note="mesoderm posterior bHLH transcription factor 2"
                     /db_xref="GeneID:145873"
                     /db_xref="HGNC:HGNC:29659"
                     /db_xref="MIM:605195"
     CDS             27..1220
                     /gene="MESP2"
                     /gene_synonym="bHLHc6; SCDO2"
                     /note="mesoderm posterior 2 homolog; mesoderm posterior
                     basic helix-loop-helix transcription factor 2; class C
                     basic helix-loop-helix protein 6"
                     /codon_start=1
                     /product="mesoderm posterior protein 2"
                     /protein_id="NP_001035047.1"
                     /db_xref="CCDS:CCDS42078.1"
                     /db_xref="GeneID:145873"
                     /db_xref="HGNC:HGNC:29659"
                     /db_xref="MIM:605195"
                     /translation="MAQSPPPQSLLGHDHWIFAQGWGWAGHWDSTSPASSSDSSGSCPC
                     DGARGLPQPQPPSCSSRAAEAAATTPRRARTGPAGGQRQSASEREKLRMRTLARALHEL
                     RRFLPPSLAPAGQSLTKIETLRLAIRYIGHLSAVLGLSEESLQCRRRQRGDAGSPWGCP
                     LCPDRGPAEAQTQAEGQGQGQGQGQGQGQGQGQGQGQGQGQGRRPGLVSAVLAEASWGS
                     PSACPGAQAAPERLGRGVHDTDPWATPPYCPKIQSPPYSSQGTTSDASLWTPPQGCPWT
                     QSSPEPRNPPVPWTAAPATLELAAVYQGLSVSPEPCLSLGAPSLLPHPSCQRLQPQTPG
                     RCWSHSAEVVPNSEDQGPGAAFQLSEASPPQSSGLRFSGCPELWQEDLEGARLGIFY"
     misc_feature    108..302
                     /gene="MESP2"
                     /gene_synonym="bHLHc6; SCDO2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0VG99.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    480..650
                     /gene="MESP2"
                     /gene_synonym="bHLHc6; SCDO2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0VG99.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    561..638
                     /gene="MESP2"
                     /gene_synonym="bHLHc6; SCDO2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0VG99.2);
                     Region: 13 X 2 AA tandem repeats of G-Q"
     misc_feature    690..911
                     /gene="MESP2"
                     /gene_synonym="bHLHc6; SCDO2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0VG99.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1077..1154
                     /gene="MESP2"
                     /gene_synonym="bHLHc6; SCDO2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0VG99.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1613..1618
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MESP2"
                     /gene_synonym="bHLHc6; SCDO2"
                     /note="hexamer: AAGAAA"
     polyA_site      1640
                     /gene="MESP2"
                     /gene_synonym="bHLHc6; SCDO2"
                     /note="major polyA site"
ORIGIN
        1 agcctcccag agcctgcagc ccggccatgg cccagtcgcc tcctccgcag agcctcctcg
       61 gccacgacca ctggatcttc gcccagggct ggggctgggc cggccactgg gactccacgt
      121 ccccggcctc ctcctccgat tcgtcgggtt cgtgcccctg cgacggcgcc cgcggactcc
      181 cgcagccaca gcctccgagc tgcagctccc gagccgcaga ggcagccgcg acgacgccca
      241 gacgagcgcg caccggacca gcgggcggac agcggcagag cgccagcgag cgggagaaac
      301 tgcgcatgcg cacgctggcc cgcgccctgc acgagttgcg ccgctttctg cctccctcct
      361 tggcgccggc cggccagagc ctgaccaaga tcgagacgct gcgcctggcc atccgctaca
      421 tcggccacct atcggccgtg ctgggtctca gcgaggagag tctgcagtgc cggcgcaggc
      481 agcgcgggga cgcggggtcc ccttggggct gcccgctgtg ccccgaccgt ggccccgcag
      541 aggcgcagac gcaggcggag gggcaggggc aagggcaggg gcaggggcag gggcaagggc
      601 aggggcaagg acaggggcaa ggacaggggc aagggcaggg gcgcaggccg ggcctggtct
      661 ccgccgtcct cgccgaggcg tcctggggat ccccgtccgc ctgccccgga gcccaagccg
      721 cacccgagcg cctggggagg ggggtccacg acacggatcc ctgggcaaca cccccttact
      781 gccccaagat acagtcgccc ccgtattcgt cccaagggac aacctccgac gcgtctcttt
      841 ggacgccacc ccaaggctgt ccctggacgc agtcgtcccc agagccccgg aacccaccag
      901 tgccctggac ggcggcccca gcaactttgg agctggccgc agtgtaccag ggtctctctg
      961 tgtctccaga gccctgtctg tcgctgggag ctccatctct cctgccccac ccatcatgcc
     1021 agagactgca gcctcagacc cccgggaggt gctggagcca cagtgcagag gtggtgccca
     1081 actcagagga ccagggaccg ggcgccgcct tccagctcag tgaagcaagc cctccccaga
     1141 gctcaggcct gcggttcagt ggctgccctg aactttggca agaagatctg gagggggccc
     1201 gcctgggcat cttctactaa atggcctcgg cttccctctt tccatccagg aatcagtcct
     1261 gtagcttggg tgcctcctta tttgttaatt agtggctttt catgttctcc tttagccaag
     1321 gctccctttt tccaagtgat gtctttcagg gaagcagtgt ttgaaataga tagcgggtac
     1381 cttccctgga tggagtcagg gcgggggcac tgtcctccac tgctagacac ccccagaatg
     1441 cctggcgctc tgcagagcac agtctgagct gctctaagaa ggggtctcct ttaccctaaa
     1501 ggcagctggg cagggacagg tgggagaatg ggtgtaggag gcaggcccca ggctctgctt
     1561 cttggtgaca gttggccaga gccctgtatg ctttgatttt tttgtactta aaaagaaaaa
     1621 acacacacac acaacaaaaa
//
LOCUS       NM_001039960           11764 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens solute carrier family 4 member 8 (SLC4A8), transcript
            variant 1, mRNA.
ACCESSION   NM_001039960
VERSION     NM_001039960.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 11764)
  AUTHORS   Wang W, Tsirulnikov K, Zhekova HR, Kayik G, Khan HM, Azimov R,
            Abuladze N, Kao L, Newman D, Noskov SY, Zhou ZH, Pushkin A and Kurtz
            I.
  TITLE     Cryo-EM structure of the sodium-driven chloride/bicarbonate
            exchanger NDCBE
  JOURNAL   Nat Commun 12 (1), 5690 (2021)
   PUBMED   34584093
  REMARK    GeneRIF: Cryo-EM structure of the sodium-driven chloride/bicarbonate
            exchanger NDCBE. Erratum:[Nat Commun. 2021 Oct 13;12(1):6083. PMID:
            34645810] Publication Status: Online-Only
REFERENCE   2  (bases 1 to 11764)
  AUTHORS   Sweeney MD, Zhao Z, Montagne A, Nelson AR and Zlokovic BV.
  TITLE     Blood-Brain Barrier: From Physiology to Disease and Back
  JOURNAL   Physiol Rev 99 (1), 21-78 (2019)
   PUBMED   30280653
  REMARK    Review article
REFERENCE   3  (bases 1 to 11764)
  AUTHORS   Alvadia CM, Sommer T, Bjerregaard-Andersen K, Damkier HH, Montrasio
            M, Aalkjaer C and Morth JP.
  TITLE     The crystal structure of the regulatory domain of the human
            sodium-driven chloride/bicarbonate exchanger
  JOURNAL   Sci Rep 7 (1), 12131 (2017)
   PUBMED   28935959
  REMARK    GeneRIF: The crystal structure at 2.8 A resolution of the regulatory
            N-terminal domain of human NDCBE represents the first crystal
            structure of an electroneutral sodium-bicarbonate cotransporter. The
            crystal structure forms an equivalent dimeric interface as observed
            for the cytoplasmic domain of Band 3, and thus establishes that the
            consensus motif VTVLP is the key minimal dimerization motif.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 11764)
  AUTHORS   Sherva R, Tripodis Y, Bennett DA, Chibnik LB, Crane PK, de Jager PL,
            Farrer LA, Saykin AJ, Shulman JM, Naj A and Green RC.
  CONSRTM   GENAROAD Consortium; Alzheimer's Disease Neuroimaging Initiative;
            Alzheimer's Disease Genetics Consortium
  TITLE     Genome-wide association study of the rate of cognitive decline in
            Alzheimer's disease
  JOURNAL   Alzheimers Dement 10 (1), 45-52 (2014)
   PUBMED   23535033
REFERENCE   5  (bases 1 to 11764)
  AUTHORS   Parker MD, Bouyer P, Daly CM and Boron WF.
  TITLE     Cloning and characterization of novel human SLC4A8 gene products
            encoding Na+-driven Cl-/HCO3(-) exchanger variants NDCBE-A, -C, and
            -D
  JOURNAL   Physiol Genomics 34 (3), 265-276 (2008)
   PUBMED   18577713
  REMARK    GeneRIF: This study confirmed the presence in human cDNA of mouse
            NDCBE-like transcripts (human NDCBE-A) and three novel transcripts
            NDCBE-C, NDCBE-D, and NDCBE-D'.
REFERENCE   6  (bases 1 to 11764)
  AUTHORS   Park M, Ko SB, Choi JY, Muallem G, Thomas PJ, Pushkin A, Lee MS, Kim
            JY, Lee MG, Muallem S and Kurtz I.
  TITLE     The cystic fibrosis transmembrane conductance regulator interacts
            with and regulates the activity of the HCO3- salvage transporter
            human Na+-HCO3- cotransport isoform 3
  JOURNAL   J Biol Chem 277 (52), 50503-50509 (2002)
   PUBMED   12403779
REFERENCE   7  (bases 1 to 11764)
  AUTHORS   Gresz V, Kwon TH, Vorum H, Zelles T, Kurtz I, Steward MC, Aalkjaer C
            and Nielsen S.
  TITLE     Immunolocalization of electroneutral Na(+)-HCO cotransporters in
            human and rat salivary glands
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 283 (2), G473-G480 (2002)
   PUBMED   12121896
REFERENCE   8  (bases 1 to 11764)
  AUTHORS   Soleimani M.
  TITLE     Na+:HCO3- cotransporters (NBC): expression and regulation in the
            kidney
  JOURNAL   J Nephrol 15 Suppl 5, S32-S40 (2002)
   PUBMED   12027220
  REMARK    Review article
REFERENCE   9  (bases 1 to 11764)
  AUTHORS   Grichtchenko II, Choi I, Zhong X, Bray-Ward P, Russell JM and Boron
            WF.
  TITLE     Cloning, characterization, and chromosomal mapping of a human
            electroneutral Na(+)-driven Cl-HCO3 exchanger
  JOURNAL   J Biol Chem 276 (11), 8358-8363 (2001)
   PUBMED   11133997
REFERENCE   10  (bases 1 to 11764)
  AUTHORS   Amlal H, Burnham CE and Soleimani M.
  TITLE     Characterization of Na+/HCO-3 cotransporter isoform NBC-3
  JOURNAL   Am J Physiol 276 (6), F903-F913 (1999)
   PUBMED   10362779
  REMARK    Erratum:[Am J Physiol 1999 Sep;277(3 Pt 2):followi]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.143682.1,
            SRR1660809.108162.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000453097.7/ ENSP00000405812.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DQ063579.2, AC025097.41 and
            AW118662.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001039960.2.
            Summary: The protein encoded by this gene is a membrane protein
            that functions to transport sodium and bicarbonate ions across the
            cell membrane. The encoded protein is important for pH regulation
            in neurons. The activity of this protein can be inhibited by
            4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Apr 2012].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..11764
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..11764
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="solute carrier family 4 member 8"
                     /db_xref="GeneID:9498"
                     /db_xref="HGNC:HGNC:11034"
                     /db_xref="MIM:605024"
     misc_feature    143..145
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="upstream in-frame stop codon"
     CDS             158..3439
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="isoform a is encoded by transcript variant 1;
                     electroneutral sodium bicarbonate exchanger 1; k-NBC3;
                     electroneutral Na(+)-driven Cl-HCO3 exchanger; solute
                     carrier family 4, sodium bicarbonate cotransporter, member
                     8"
                     /codon_start=1
                     /product="electroneutral sodium bicarbonate exchanger 1
                     isoform a"
                     /protein_id="NP_001035049.1"
                     /db_xref="CCDS:CCDS44890.1"
                     /db_xref="GeneID:9498"
                     /db_xref="HGNC:HGNC:11034"
                     /db_xref="MIM:605024"
                     /translation="MPAAGSNEPDGVLSYQRPDEEAVVDQGGTSTILNIHYEKEELEGH
                     RTLYVGVRMPLGRQSHRHHRTHGQKHRRRGRGKGASQGEEGLEALAHDTPSQRVQFILG
                     TEEDEEHVPHELFTELDEICMKEGEDAEWKETARWLKFEEDVEDGGERWSKPYVATLSL
                     HSLFELRSCLINGTVLLDMHANSIEEISDLILDQQELSSDLNDSMRVKVREALLKKHHH
                     QNEKKRNNLIPIVRSFAEVGKKQSDPHLMDKHGQTVSPQSVPTTNLEVKNGVNCEHSPV
                     DLSKVDLHFMKKIPTGAEASNVLVGEVDILDRPIVAFVRLSPAVLLSGLTEVPIPTRFL
                     FILLGPVGKGQQYHEIGRSMATIMTDEIFHDVAYKAKERDDLLAGIDEFLDQVTVLPPG
                     EWDPSIRIEPPKNVPSQEKRKMPGVPNGNVCHIEQEPHGGHSGPELQRTGRLFGGLVLD
                     IKRKAPWYWSDYRDALSLQCLASFLFLYCACMSPVITFGGLLGEATEGRISAIESLFGA
                     SMTGIAYSLFAGQALTILGSTGPVLVFEKILFKFCKDYALSYLSLRACIGLWTAFLCIV
                     LVATDASSLVCYITRFTEEAFASLICIIFIYEAIEKLIHLAETYPIHMHSQLDHLSLYY
                     CRCTLPENPNNHTLQYWKDHNIVTAEVHWANLTVSECQEMHGEFMGSACGHHGPYTPDV
                     LFWSCILFFTTFILSSTLKTFKTSRYFPTRVRSMVSDFAVFLTIFTMVIIDFLIGVPSP
                     KLQVPSVFKPTRDDRGWIINPIGPNPWWTVIAAIIPALLCTILIFMDQQITAVIINRKE
                     HKLKKGCGYHLDLLMVAIMLGVCSIMGLPWFVAATVLSITHVNSLKLESECSAPGEQPK
                     FLGIREQRVTGLMIFVLMGCSVFMTAILKFIPMPVLYGVFLYMGVSSLQGIQFFDRLKL
                     FGMPAKHQPDFIYLRHVPLRKVHLFTLIQLTCLVLLWVIKASPAAIVFPMMVLALVFVR
                     KVMDLCFSKRELSWLDDLMPESKKKKLDDAKKKAKEEEEAEKMLEIGGDKFPLESRKLL
                     SSPGKNISCRCDPSEINISDEMPKTTVWKALSMNSGNAKEKSLFN"
     misc_feature    158..232
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    320..442
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1175..1189
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1);
                     Region: VTVLP, mediates dimerization.
                     /evidence=ECO:0000269|PubMed:28935959"
     misc_feature    1592..1654
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1);
                     transmembrane region"
     misc_feature    1727..1789
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1);
                     transmembrane region"
     misc_feature    1853..1915
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1);
                     transmembrane region"
     misc_feature    1943..2005
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1);
                     transmembrane region"
     misc_feature    2093..2095
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="N-linked (GlcNAc) asparagine.
                     /evidence=ECO:0000250|UniProtKB:Q6RVG2; propagated from
                     UniProtKB/Swiss-Prot (Q2Y0W8.1); glycosylation site"
     misc_feature    2219..2281
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1);
                     transmembrane region"
     misc_feature    2351..2413
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1);
                     transmembrane region"
     misc_feature    2492..2554
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1);
                     transmembrane region"
     misc_feature    2630..2692
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1);
                     transmembrane region"
     misc_feature    2801..2863
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1);
                     transmembrane region"
     misc_feature    2870..2932
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1);
                     transmembrane region"
     misc_feature    3044..3106
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q2Y0W8.1);
                     transmembrane region"
     regulatory      5171..5176
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="hexamer: ATTAAA"
     polyA_site      5192
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
     regulatory      11743..11748
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="hexamer: AATAAA"
     polyA_site      11764
                     /gene="SLC4A8"
                     /gene_synonym="NBC3; NDCBE"
                     /note="major polyA site"
ORIGIN
        1 gcgggccggt ggctatggag gcggcggcgg ttgatggttg accgttggct ccggggtggg
       61 ggtcgccgtt cgagtgatct gctcagaccc gaccagaggg cgcgggctgc tgatgcttgg
      121 cttggagccc gtgggggaga cctagttcgg ctccgccatg ccggccgccg ggagtaacga
      181 gccggacggc gtcctcagct atcagagacc agatgaagaa gctgtggtgg atcagggtgg
      241 gaccagtaca attctcaaca ttcactatga aaaagaagag ctggaaggtc acagaactct
      301 gtatgtggga gttcggatgc cgcttggccg gcagagccat cggcatcacc gcactcatgg
      361 ccagaagcac cggagacgag ggcggggcaa aggagccagc cagggggagg aaggcctgga
      421 agccctggcc cacgacacac catctcagcg tgttcagttc attcttggca ccgaggaaga
      481 tgaagagcat gtgcctcatg agctgtttac agagctggat gagatctgta tgaaagaggg
      541 agaagatgct gagtggaagg aaacagccag gtggctgaag tttgaagaag atgttgaaga
      601 tgggggagaa cgctggagca agccttatgt ggcaaccctt tcattgcaca gcctgtttga
      661 gctaaggagc tgccttatta atggaacagt cctcctggat atgcatgcaa atagcataga
      721 agaaatttca gacctgatcc tggatcagca agaactgtcc agtgacctga atgacagcat
      781 gagggttaaa gtgcgggaag cccttctcaa aaagcatcat catcagaatg aaaagaagag
      841 aaacaacctc attcccattg ttcgctcctt tgctgaggtt ggcaagaagc agtctgatcc
      901 tcatttgatg gataaacatg gtcaaaccgt gtctcctcag tctgttccaa ctacaaatct
      961 tgaagtaaaa aatggagtga attgtgaaca tagtcctgtg gatttaagca aggtagacct
     1021 tcatttcatg aaaaaaattc ctactggggc cgaggcctcc aatgtcctgg ttggagaggt
     1081 ggatattttg gaccgtccca ttgttgcctt tgtgaggctg tctccagctg ttcttctctc
     1141 aggcctaaca gaagtgccaa tcccaacaag atttttgttt atcttattgg gtccagtagg
     1201 gaaaggtcag cagtaccatg agattggcag atccatggcc accatcatga cagatgagat
     1261 ttttcatgac gtagcatata aggcaaaaga gcgagatgat ctcctggcgg ggattgatga
     1321 gttcctagac caggtgacgg tgctccctcc aggagagtgg gatccctcca ttagaattga
     1381 gccacccaaa aatgtccctt cccaggagaa aaggaaaatg cctggagttc caaatggaaa
     1441 tgtttgccac atagaacagg aaccacatgg gggtcacagt gggccagaac ttcagcgcac
     1501 tgggcggcta tttgggggct tggtgctgga catcaagcgg aaggccccct ggtactggag
     1561 cgactaccga gatgcactca gcttacagtg tttggcttcc tttctgttcc tgtactgtgc
     1621 ctgcatgtca cctgtcatca cctttggggg actgcttgga gaagccactg agggacgcat
     1681 aagtgcaatt gaatccttgt ttggagcttc catgactggg attgcttatt ccttgtttgc
     1741 gggacaggct ctcaccatcc tgggaagtac tggaccagtg cttgtgtttg aaaagatttt
     1801 gttcaaattc tgcaaagact atgctctttc atacctctcc ctgcgagctt gtattggact
     1861 gtggaccgct ttcctgtgta ttgtccttgt ggcaactgat gccagttccc ttgtctgcta
     1921 cattacccgt ttcactgaag aagcatttgc ctccctaatt tgcattattt tcatctatga
     1981 agcaatagaa aaactgattc acctggcaga gacctacccc atccacatgc acagccagct
     2041 ggaccacctt agcctctatt actgcaggtg tactctgcca gagaatccaa acaatcacac
     2101 cctccagtac tggaaggacc acaacatcgt gacagcagaa gtccactggg ctaacctgac
     2161 tgtcagtgaa tgccaggaga tgcatggaga gttcatggga tctgcgtgcg gccatcatgg
     2221 accctacact cctgatgtcc tcttttggtc ctgtattctc tttttcacca ccttcatcct
     2281 ctcaagcacc ttaaagacgt ttaagacgag ccgttatttc ccaaccagag tacgctccat
     2341 ggtgagtgac tttgctgttt tcctcactat cttcacaatg gtgattattg attttttgat
     2401 tggagtccca tcaccaaagc ttcaagttcc cagtgtgttc aagccaacaa gggatgatcg
     2461 cggatggatt attaatccca ttggccccaa tccctggtgg actgtgatag ctgcaattat
     2521 cccagctctt ctctgtacta tcttgatatt catggatcag cagatcacag ccgtcattat
     2581 taacaggaag gaacataagc tcaagaaagg ctgtggctac cacctggacc tactgatggt
     2641 ggccatcatg ctgggtgtct gctccatcat gggcctgccc tggtttgtag ctgcaactgt
     2701 cttgtccatc acacatgtga acagcctcaa gctagaatct gaatgctctg ctcctggaga
     2761 acagcccaag ttcctgggca tccgagaaca gagagtgaca ggccttatga tctttgtgct
     2821 gatgggctgc tcagtcttca tgacggctat cttaaagttt attccaatgc cagtactcta
     2881 cggagttttc ctttacatgg gagtttcttc actacaggga attcagttct ttgatcgtct
     2941 aaagctcttt gggatgcccg caaagcacca gccagatttc atctacctgc ggcatgtgcc
     3001 gctgcgcaaa gtgcacctct tcaccctcat ccagttgacc tgtctcgtcc tgctctgggt
     3061 catcaaggca tctccagctg ccattgtttt cccaatgatg gttttggcct tggtctttgt
     3121 caggaaagtc atggatctct gtttctctaa gcgagagctg agctggctag atgatctcat
     3181 gcctgaaagc aaaaagaaga agttggatga tgccaaaaag aaggccaagg aggaagagga
     3241 ggctgagaaa atgttagaaa ttgggggaga caagtttccc ttagagagca ggaagttact
     3301 aagtagtcct ggaaagaaca tcagttgcag atgtgacccc tctgagatta atatatctga
     3361 tgaaatgcct aaaactacag tttggaaagc tctcagtatg aattctggaa atgcaaagga
     3421 aaagagtctc ttcaactaag agtctttgct gggatggaag atttgggccg tgtggtgcct
     3481 cagggaagtt ctggttacag agaaaatggc gagtctctca gagaagaagc aagaccaagt
     3541 ctggccctgt ccttggtcat ctcaaagcca tgccgaagca ttcagttatt cttggtgtgc
     3601 attggaaggc atccagctat ccccatacca gcagccagtc accagatgtg aatgtggaag
     3661 cagaagacca cctcctgttg gttcttctcc tcttccttct ttttctcttt agaacggcca
     3721 ccattgaaga cctagcttcc cattttccag acgttttctc tgaaattctc tgctggcctg
     3781 ccaagccata tggattcatt ctgccactga ggagtccttc agtgaggtcc ctcttcctaa
     3841 aggacagagt ggggagtagg aggggaacag agaggacatc ctctctggct ctccagtgct
     3901 cttagtgtct acaggctcct aggcagccct gggccttggt ttgattacct cccctggggg
     3961 atgctggtca gacccagagg ttgtcaggag gtcagctacc aggaagatcc atgatctggg
     4021 cattggcagt gcctgccacc acagccagga agatgcctct gacctgggtg catctccatc
     4081 actccttagc agcagcctgc ataactggca agaatcttgg atgatacaag agccaagaag
     4141 ggacatttga gttgtgtcgc ttagatagga aagggatcca gggaaaatca acagtaagtg
     4201 aggatgagca gtgtctcttg gttttcattg aggatagagt aagagattga gtttagattg
     4261 caacagaagg aattagttta gataccagga agaacttcct agcctgaaga tttgtcatag
     4321 tgtctgcttt ctagatatct gggaaagatt tgataatagt tgtttgtgaa tagaaaggag
     4381 gatatgatgt ttttattggc cattttgcgg gactcttcga cttcttgctg ctgtctcttg
     4441 aggatacatt ccaattccat cctggcgaga tccaagtgct tacgtactgt ctccttagct
     4501 gccttagagt aaacgatcat cagttcaatg gaccaaaatc accttcagcc atgtggtttc
     4561 ttcatcatca tggatttctt ttggttgaca aacattctgg ctctcagatg caaaaagtca
     4621 cactgggaaa tgaactgtaa gtggtgaaat tagttttggt atttaattta aaactacatt
     4681 tatagttttt ctcttctctt ctatgttgca atgaatgtaa agtatttggg atccagtgct
     4741 tataaacctt tccttccttt gtgcacagaa tgtaactagc aagcccatta gcacccagat
     4801 aattctatca tgttagtttc ccatcctgga aaatctttgt acagtgggaa gttccccgat
     4861 gtgtttttct ttcttaggtg aagggttggc tatatcactt tattgaattt tgcattcctt
     4921 agacttttaa aatatactaa tgtattctag tcttactcta aagacctttg atgttaaagg
     4981 aatccttcat ttatttcata ttccctatct catagggcca caattatttt aatacagaga
     5041 tgattttcaa aatattttaa caactggtac aggacagatg ccagccactc agaagggatg
     5101 cctgctgtaa acaagcagta tgtatggttg taccaatgcc tattggctga acattatgct
     5161 actttcagat attaaaatgg tgttcctttg aatcgtgggt attgttcctg gtttgtctca
     5221 tttctatcac aaggctgttt tgggcacagc cttagcttcc tttcatatat atatggtgca
     5281 gacaggatag gtcatgcttc ttggaaccta tatgggcatt aaaatcttca tgagccaaag
     5341 cttcacattt tagcacttta ggataactgt agtaattgta ctcatttacc tacctaattg
     5401 ggaagaatta aaaggcagcc catctggagg ataagctttc ttgcagactt ttcccttgtc
     5461 cctctctggc tgcctccttg agcttgccac tttttcatct tcattgttcc ctgagaacat
     5521 ctcccctttc ttgctctatc ttgcccctcc catcttttcc tgccacctct gtgtggggag
     5581 gttgatgacc atttcacctc tttccctagc ctcagcacag ctgtaaggag tgtatcaaaa
     5641 ctgggtgaga gtatcactca gaaaaatgcc tcccctaaca cacggatgtc ttgtgctgcc
     5701 ttgaccgctt gaggggagga gccttcatta actctgtgta gtgcaggtac aggaccacct
     5761 gtgcacttta gggtacttct cgagctagac cctcctggat cactgcgcct taggaatgtt
     5821 agctactttt taaaaaaaat atgatttggt gcgttgttgg ggtgaactcc atggggaaga
     5881 ttgtgagtga agatgggaag gaatttgggt ggttttgcca cgaggtgatg gttggggttg
     5941 ggcgaatggg ttggatgatc ctggctctgt gggtgtggtg ctcggttgcc tccgtacagt
     6001 tgcagttcac ctttgtgcat ggtgattacc agtcactcta gggattgtag gtcccaacag
     6061 cggttccagc agcctgcaca gctggtacga ggacagctgg aggagggtct gatatccctg
     6121 caagtgatgc aggataaaac ttcccggccg ggcgcaatgg ctcgcgcctg taatcccagc
     6181 actttgggag gccaagatgg gcggatcacg aggtcaggag atcgagacca tcctggctaa
     6241 cgtggtgaaa ccccgtctct actaaaaata caaaaaaatt agctgggcat ggtggcgggc
     6301 gcctgtagtc ccagctattc aggaggctga ggcagaatgg cgtgaacgcg ggaggcagag
     6361 cttgcagtga gccgagatca tgccactgca ctccagcctg ggtgacagag caagactcca
     6421 tttcaaaaaa aaaaaaaaaa aaaaacttcc caataggagg tattccttga tggctctcga
     6481 atgcatgaat gatatatcaa tttgaagttt ctcgaccttt ccatcaagga tcttgaattt
     6541 tttctcaatt atgcttgcta atgtgtcaaa ggccaagtac actgtatcaa acttgccgtc
     6601 tgtaagatgc aagatcaatc tagtgtttca gccagttcac tactgacatc agactcaact
     6661 ttgtcccctc tctttctttt catgcaagag actttaaggg taacctcttc agttgaaact
     6721 gtcttggaag tgcagccctc ctcctgtgtg gctagagaaa gagatggcac caggatctct
     6781 taacggcaag tgctcacggg gcatgggtga ttttgtctag tctggtcctt ttggacgtgg
     6841 tgatttcctg tcatcctcgt ggtctgacat tgcttctcac tggatactgg ttgtggcctt
     6901 tgactcatta gctgattgtt ggatctcttt gtgaggttcg attttttaaa aatccatggg
     6961 tccctatgga ctgtcacctg ttgcagatga tggtgattct cttctttttt ttgtctccaa
     7021 tagttgcctg gacgacttca tgggtcagtc cacatgattg caggatttcc cattgttcat
     7081 ctgtgaatgt tgattggcca acctgtctga gctttcagca gatgcatcct tgagcttact
     7141 ttcaggaatt cctcctggaa ttggttttcc ttggtggtaa tttctcatgg tggagcttgt
     7201 ttctgaggca tggtacagtg ctgcggaggc aaggcaaggc tgtcatggtg attttcacag
     7261 catctggatg gcaaattgcc ttcacgtagg gaaaccacat gggactgata gctttctcaa
     7321 gggatctcca agcatctctg aatttgggga tttcatcagt tactcctgga atcaaaatga
     7381 gtgtggagtc ataatatata ttttttttga gacaaagtct cactctgtcg cccaggctgg
     7441 agtgcagtgg tgcgatctca tctcactgca acctctgcct cctgggttca agtgattctc
     7501 ctgcctcagc ctcccaagta gctaggatta caggtgcgca ccaccatgcc cagctaattt
     7561 ttgtatttta gtagagacga agtttcacta tgttggccag gctggtctga aactcctggc
     7621 ctcaggtgat ccacccacct cagcctccca aagtgctggg attacaggta tgagccactg
     7681 cccctggcct caaaatcttt aaggaagtta tttatcgtca caagtgttgt catctgtgac
     7741 tcatgggcca cttgatgaac ctgaaccatt agtggttgtc cagatcctcc aactttttca
     7801 ggcagtattc caatcagggt tttacgacac cagggtatcc cacctttttt gcaacatagg
     7861 cagaaacacc aagctgtggg taattgatgt gcgtgtcact gattcctgca acagctttga
     7921 atgtattaaa tctgttttca acagcccttg cataggtgtt atctctcaaa tctctgtaaa
     7981 gagcactaag agtatgtagt gttgcatgat ataatccaag cctgtgggct gtgtcatccg
     8041 ggattgttgg aattttgcat gtgtctgttc catatcccgc tggtaaccag cttacagacc
     8101 ttctgtcagg ttggcttaca ttatcatcaa caggttgccg tagtgatgat atgatgctgg
     8161 acacaatcat tgtgcacttt gttaatttgg tatggtggtg ccacacatta tcactgtaca
     8221 gcattaacaa ggctggaata tggccctctg ctgtaggggg cgtggcacct gtgacttgca
     8281 ctggaataag taggaggctt tccccaaagg atatggagac tgatgtgtgc tccatatctt
     8341 gaggggagct ctcttggttt cctttggccg ggtctgttag ttacttttga aggccatgcc
     8401 aaccctttta ggccattaaa tttttctcaa acaatagcca gcctcatttc tgcttcatct
     8461 ctgtggtagg aaccattccc tactcttact ccctcctctt gtccaacttc caccaaacac
     8521 tcaatccgag tcctggctgc tttcttgctt aggtctgtgg ctggtcactg tggtgaaaga
     8581 gtcaaggtgg gcagtgtttg gggtaggaaa tgagtagtgg tgaagcagca gcagtgtgtg
     8641 tgtgggtgtg ggtgtgtgtg catgcgtgtg catttgcatg tgtgtatgtt gacaaatgag
     8701 agtgtagcca taagatttca ttgttactac tagtctttgt gtacctatct ggagggacat
     8761 taaaaaaata tggccattct cccatctagg gggttcccat ctcagacttc tctgataaga
     8821 gtaatttgag aacaaataca gattcatcta tgggaaaaga tgtttaaact cagcatgaag
     8881 gagaaacaaa tttaggagtg gaaagcaagg caggtagtta ggtgatttcc atgaccacat
     8941 ttgcttgggc cagggaagtg gtgcacctct tttataacaa tgggagattt cagaaacagt
     9001 ttgagtgttg gcagaccaat gccctgataa gcttgtggta tagaggtagg aagggaggga
     9061 ggccagagat tagataaaat gatggtgggt gggatcttag ctctaaatga aaagaactgg
     9121 acttactaag tgggtggatt acttgctagc cataactttt agggaagggt aggtctggag
     9181 agaaggtgaa gaccagcaga aatatactgt gaaattgcca aatatgtttg gttgcagaaa
     9241 acacagcctg gctctttgtg gctagatgtg acttccaact tctgaagaca ggattgccaa
     9301 gagatgtgat ctttccacat acagctcctg tccccatctc tttatgtgta gagacctgga
     9361 tttggggtag tggggtagta aaccatatat ttccaaaaga tggtgtgaag agtcgtttct
     9421 cttcgtctgg gatgtgattg gcttttgttt tttgtttttt gtttttgaga cggagtctcg
     9481 ctctgtcgct ttgtcaccag gctggagtgc aatggcacaa tctcagctca ctgcaacctc
     9541 cgcctcctgg cttcaagtga ttctcctgcc tcagcctcct gagtagctgg gactataggc
     9601 gcgcaccacc atgcccagct aatttttgta tttttagtag agatgggatt tcaccatgtt
     9661 ggccaggatg gtcttgatct cttgacctca tgatccaccc gccttggcct cccaaagtgc
     9721 tgggattaca ggcttgagct actgcgcccg gccagtgatt ggcttttaaa ttaatcacaa
     9781 atgtttgata aaattctggt atgtgctaag tcccaggctt ggttgatatc tcagactatg
     9841 atagctgtga ccttcaagaa atttctggct tggggaatct gtagtttctg gttgtccaaa
     9901 aaagatagtt cttagtccta ctttattttc tacccactca actctccaga cttccctctt
     9961 agtaaaggaa ttcataattc tccctgcatc ttctctgttt atttcaatgt ccatgttctg
    10021 agtctcaagt tttcctgaag cacaggagca ggcttggccc cagagcccct ggctttttca
    10081 acgagcatca gaaatgctat caatatattc tctctgttgc tttatcagct tctctaaatt
    10141 tattttgtaa ggaagttagc acctccttcc aggactttaa acagttgtct ttgccaattt
    10201 gttcctggat tttccttgaa cttctcaggt ttccaagcca catcctagca gggcatccag
    10261 gagccttgca ctgaacctct cagctctttt gactttcttc tggtcatagg tgttgggcct
    10321 cccattaggt agaagtcctt tgagcagacc cgaaatggcc aaatgagaca tcatccaagt
    10381 tcctccctcc tttactgtct cggctttttc aagcacccct ttcacctctc ttttctgcct
    10441 tttcctcagt ctgtcaagtt ctttggagga aagaagttct tggtcagagg tcctaaaacc
    10501 accaccagct gggggtgctg agaatggtga ggagttggac agtcccgggg cttttttgaa
    10561 aggggacttt atggtcattt cccctgttta gggtgaggga ctaagaattc tcaagccttc
    10621 agtttcatcc atatttcaat gtaagcagaa aagcacatct caaagccaaa tagaaatgat
    10681 tttctactaa gcctatcctt tgtgattctt ggttcccttg gtctcttaat attaattata
    10741 gagaatgggc agttgagtca gttaacatct tttcatcaga aaggagggta atattcataa
    10801 ccaaaagaga tgtaaaggaa gtatattact gcttgaagtg tgaaaagagg aaaggagtgt
    10861 tatgtgaacc ttttcagtag ggaaattcag aaaatggaat gattcatcca taggcataat
    10921 tcttttagga gattctgtgc tcaaagggaa gggaatggtt tctgatcctt ctgaagagaa
    10981 aaggaatagc atttttctta aacctaaccc agtttcagca ttggagaata cagaactttt
    11041 tcttctagct gatggcatta atatttcttg agagagagaa ctcacccatg gcacttttct
    11101 gagcccagca gaaatcagcg gagcttgggc ttcgcttagc aggtttgcaa ttgacttcaa
    11161 catgcaggct tttcacatgt gcaataatgc tggaaacaga agcaccaaac tgattgtgca
    11221 attactcctt ttgtagaaga ggccaaaatc ctcctcctcc ttcctttctc ctatattcac
    11281 tcctccagga tcataaagcc tccctcttgt ttatctgtgt ctgtctgtct gattggttag
    11341 atttggctgc ccttccaagc taatggtgtc aggtggagaa cagagcaacc ttccctcgga
    11401 aggagacaat tcgaggtgct ggtacatttc ccttgttttc tatgttcttc tttctagtgg
    11461 gtctcatgta gagatagaga tatttttttg ttttagagat tccaaagtat atatttttag
    11521 tgtaagaaat gtaccctctc cacactccat gatgtaaata gaaccaggaa taaatgtgtc
    11581 attgtgataa tcccatagca atttatggta agaacaagac ccctttccct caccaccgag
    11641 tctcgtggtc tgtgtctgtg aaccagggca ggtaattgtg acactgcatc tcatagaact
    11701 ctgcctgccc agatttttgt gtgctcacct caatgggtga aaaataaagt ctgtgtaaac
    11761 tgtt
//
LOCUS       NM_001039999            5226 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens family with sequence similarity 83 member G (FAM83G),
            mRNA.
ACCESSION   NM_001039999
VERSION     NM_001039999.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5226)
  AUTHORS   Liu C, Huang XY and Huang Y.
  TITLE     FAM83G promotes proliferation, invasion, and metastasis by
            regulating PI3K/AKT signaling in hepatocellular carcinoma cells
  JOURNAL   Biochem Biophys Res Commun 567, 63-71 (2021)
   PUBMED   34144502
  REMARK    GeneRIF: FAM83G promotes proliferation, invasion, and metastasis by
            regulating PI3K/AKT signaling in hepatocellular carcinoma cells.
REFERENCE   2  (bases 1 to 5226)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   3  (bases 1 to 5226)
  AUTHORS   Okada J, Sunaga N, Yamada E, Saito T, Ozawa A, Nakajima Y, Okada K,
            Pessin JE, Okada S and Yamada M.
  TITLE     FAM83G Is a Novel Inducer of Apoptosis
  JOURNAL   Molecules 25 (12), 2810 (2020)
   PUBMED   32570757
  REMARK    GeneRIF: FAM83G Is a Novel Inducer of Apoptosis. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 5226)
  AUTHORS   Fulcher LJ, Bozatzi P, Tachie-Menson T, Wu KZL, Cummins TD, Bufton
            JC, Pinkas DM, Dunbar K, Shrestha S, Wood NT, Weidlich S, Macartney
            TJ, Varghese J, Gourlay R, Campbell DG, Dingwell KS, Smith JC,
            Bullock AN and Sapkota GP.
  TITLE     The DUF1669 domain of FAM83 family proteins anchor casein kinase 1
            isoforms
  JOURNAL   Sci Signal 11 (531) (2018)
   PUBMED   29789297
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5226)
  AUTHORS   Bozatzi P, Dingwell KS, Wu KZ, Cooper F, Cummins TD, Hutchinson LD,
            Vogt J, Wood NT, Macartney TJ, Varghese J, Gourlay R, Campbell DG,
            Smith JC and Sapkota GP.
  TITLE     PAWS1 controls Wnt signalling through association with casein kinase
            1alpha
  JOURNAL   EMBO Rep 19 (4) (2018)
   PUBMED   29514862
  REMARK    GeneRIF: PAWS1 interacts and co-localises with the alpha isoform of
            casein kinase 1 (CK1), and that PAWS1 mutations incapable of binding
            CK1 fail both to activate Wnt signalling and to elicit axis
            duplication in Xenopus embryos.
REFERENCE   6  (bases 1 to 5226)
  AUTHORS   Vogt J, Dingwell KS, Herhaus L, Gourlay R, Macartney T, Campbell D,
            Smith JC and Sapkota GP.
  TITLE     Protein associated with SMAD1 (PAWS1/FAM83G) is a substrate for type
            I bone morphogenetic protein receptors and modulates bone
            morphogenetic protein signalling
  JOURNAL   Open Biol 4 (2), 130210 (2014)
   PUBMED   24554596
  REMARK    GeneRIF: PAWS1 regulates the expression of some SMAD4-independent
            BMP target genes as well as some BMP-independent genes. Publication
            Status: Online-Only
REFERENCE   7  (bases 1 to 5226)
  AUTHORS   Radden LA 2nd, Child KM, Adkins EB, Spacek DV, Feliciano AM and King
            TR.
  TITLE     The wooly mutation (wly) on mouse chromosome 11 is associated with a
            genetic defect in Fam83g
  JOURNAL   BMC Res Notes 6, 189 (2013)
   PUBMED   23656696
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 5226)
  AUTHORS   Varjosalo M, Sacco R, Stukalov A, van Drogen A, Planyavsky M, Hauri
            S, Aebersold R, Bennett KL, Colinge J, Gstaiger M and Superti-Furga
            G.
  TITLE     Interlaboratory reproducibility of large-scale human protein-complex
            analysis by standardized AP-MS
  JOURNAL   Nat Methods 10 (4), 307-314 (2013)
   PUBMED   23455922
REFERENCE   9  (bases 1 to 5226)
  AUTHORS   Beausoleil SA, Villen J, Gerber SA, Rush J and Gygi SP.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
REFERENCE   10  (bases 1 to 5226)
  AUTHORS   Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR,
            Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR,
            Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen
            CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K,
            FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham
            DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S,
            Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G,
            Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P,
            Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J,
            Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith
            C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker
            CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J,
            Lander ES and Nusbaum C.
  TITLE     DNA sequence of human chromosome 17 and analysis of rearrangement in
            the human lineage
  JOURNAL   Nature 440 (7087), 1045-1049 (2006)
   PUBMED   16625196
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000388995.11/ ENSP00000373647.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090286.16, CF138357.1, CN370352.1, DN831927.1, BX365956.2,
            BX402942.2, DY655105.1, CX165458.1 and CR735308.1.
            On Nov 22, 2018 this sequence version replaced NM_001039999.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5226
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..5226
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /note="family with sequence similarity 83 member G"
                     /db_xref="GeneID:644815"
                     /db_xref="HGNC:HGNC:32554"
                     /db_xref="MIM:615886"
     CDS             185..2656
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /note="protein associated with SMAD1"
                     /codon_start=1
                     /product="protein FAM83G"
                     /protein_id="NP_001035088.2"
                     /db_xref="CCDS:CCDS42276.1"
                     /db_xref="GeneID:644815"
                     /db_xref="HGNC:HGNC:32554"
                     /db_xref="MIM:615886"
                     /translation="MAFSQVQCLDDNHVNWRSSESKPEFFYSEEQRLALEALVARGRDA
                     FYEVLKRENIRDFLSELELKRILETIEVYDPGSEDPRGTGPSQGPEDNGVGDGEEASGA
                     DGVPIEAEPLPSLEYWPQKSDRSIPQLDLGWPDTIAYRGVTRASVYMQPPIDGQAHIKE
                     VVRKMISQAQKVIAVVMDMFTDVDIFKDLLDAGFKRKVAVYIIVDESNVKYFLHMCERA
                     CMHLGHLKNLRVRSSGGTEFFTRSATKFKGALAQKFMFVDGDRAVCGSYSFTWSAARTD
                     RNVISVLSGQVVEMFDRQFQELYLMSHSVSLKGIPMEKEPEPEPIVLPSVVPLVPAGTV
                     AKKLVNPKYALVKAKSVDEIAKISSEKQEAKKPLGLKGPALAEHPGELPELLPPIHPGL
                     LHLERANMFEYLPTWVEPDPEPGSDILGYINIIDPNIWNPQPSQMNRIKIRDTSQASAQ
                     HQLWKQSQDSRPRPEPCPPPEPSAPQDGVPAENGLPQGDPEPLPPVPKPRTVPVADVLA
                     RDSSDIGWVLELPKEEAPQNGTDHRLPRMAGPGHAPLQRQLSVTQDDPESLGVGLPNGL
                     DGVEEEDDDDYVTLSDQDSHSGSSGRGPGPRRPSVASSVSEEYFEVREHSVPLRRRHSE
                     QVANGPTPPPRRQLSAPHITRGTFVGPQGGSPWAQSRGREEADALKRMQAQRSTDKEAQ
                     GQQFHHHRVPASGTRDKDGFPGPPRYRSAADSVQSSTRNAGPAMAGPHHWQAKGGQVPR
                     LLPDPGSPRLAQNARPMTDGRATEEHPSPFGIPYSKLSQSKHLKARTGGSQWASSDSKR
                     RAQAPRDRKDP"
     misc_feature    188..190
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (A6ND36.2); acetylation site"
     misc_feature    194..196
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (A6ND36.2); phosphorylation site"
     misc_feature    407..508
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /note="propagated from UniProtKB/Swiss-Prot (A6ND36.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    554..556
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (A6ND36.2); phosphorylation site"
     misc_feature    563..565
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (A6ND36.2); phosphorylation site"
     misc_feature    1250..1252
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (A6ND36.2); phosphorylation site"
     misc_feature    1532..2653
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /note="propagated from UniProtKB/Swiss-Prot (A6ND36.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2012..2014
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:24554596; propagated from
                     UniProtKB/Swiss-Prot (A6ND36.2); phosphorylation site"
     misc_feature    2024..2026
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:24554596; propagated from
                     UniProtKB/Swiss-Prot (A6ND36.2); phosphorylation site"
     misc_feature    2030..2032
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:24554596; propagated from
                     UniProtKB/Swiss-Prot (A6ND36.2); phosphorylation site"
     misc_feature    2132..2134
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (A6ND36.2); phosphorylation site"
     misc_feature    2180..2182
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:18669648;
                     propagated from UniProtKB/Swiss-Prot (A6ND36.2);
                     phosphorylation site"
     regulatory      5192..5197
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /note="hexamer: AATAAA"
     polyA_site      5226
                     /gene="FAM83G"
                     /gene_synonym="PAWS1"
                     /note="major polyA site"
ORIGIN
        1 ctcgcgccgc cgccgcagcc gccgcgtgtg cgccccgctc cgccagcgcc cgctcgattg
       61 ctcatgggca gagaagcaga ggccgcggag aggcccccga gcgcgcggtg ccccagctgg
      121 gccggagcta ggagctggac cttgcccacc cacccccggc agcagtgccc gggcaggcgg
      181 cgccatggcc ttctctcagg tgcagtgtct ggacgacaac catgtgaact ggcgctccag
      241 cgagtccaag cctgagttct tctacagcga ggagcagcgg ctggcgctgg aggccctggt
      301 ggcccgcggc cgggacgcct tctacgaggt gctcaagcgg gagaacatcc gagacttcct
      361 ctcggagctg gagctcaagc gcatcctgga gaccatcgag gtgtacgacc cgggctctga
      421 ggaccctcgg ggcacgggcc cctctcaggg gcccgaggac aatggggtcg gcgacggcga
      481 ggaagccagc ggggcggatg gggtccccat cgaggccgag ccgctgccct ccctggagta
      541 ctggccccag aagtcggacc gctccatccc gcagctggac ctgggctggc ccgacaccat
      601 cgcctaccgc ggcgtgaccc gggctagcgt ctacatgcag ccccccatag acgggcaggc
      661 ccacatcaaa gaggtggtgc ggaagatgat cagccaggca cagaaggtga tagctgtggt
      721 catggacatg ttcaccgacg tggacatctt caaggacctg ctggacgccg gcttcaagag
      781 gaaagtggcc gtgtacatca tcgtggatga gagtaacgtc aagtacttcc tgcacatgtg
      841 tgagcgggcc tgcatgcacc tggggcacct caagaatctc agagtgcgga gcagcggggg
      901 aactgagttc ttcacgcggt cggcaaccaa gttcaagggt gccctggccc agaagttcat
      961 gtttgtggat ggagaccggg ctgtgtgcgg ctcctacagc ttcacgtggt cggccgcgcg
     1021 gacggaccgg aatgtgatct ctgtgctgtc tggccaggtg gtggagatgt ttgaccggca
     1081 gttccaggag ctgtacctca tgtcacacag tgtgagcctc aagggcatcc ctatggagaa
     1141 ggaaccggag ccggagccta ttgtgctgcc ctctgtggtc cccctggtgc ccgcgggcac
     1201 tgtggccaag aagctcgtca accccaagta cgcacttgtc aaggccaaga gcgtcgacga
     1261 gattgccaag atctcctctg agaagcagga ggccaagaag cccctggggc tgaaaggccc
     1321 agcgctggct gagcatccag gggaactccc cgagctgctg ccacccatcc acccaggact
     1381 gcttcacctg gagagggcca acatgtttga gtacctgccc acgtgggtgg agccagaccc
     1441 ggagcctggc agcgacatcc tgggctacat caatatcatc gaccccaaca tctggaaccc
     1501 ccagcccagc cagatgaacc gcatcaagat ccgtgacacc tcccaggcca gcgcccagca
     1561 ccagctgtgg aagcagagcc aggacagcag gccccgtcca gagccttgcc ctcccccaga
     1621 gcccagtgcc ccccaggacg gtgtcccagc tgagaacggc ctcccccagg gggaccctga
     1681 gccattgccc cccgtgccca agccccggac agtccctgtg gcagatgtac tagcccggga
     1741 cagcagtgat attggctggg tcctggagct ccccaaagag gaagctcccc agaatgggac
     1801 agaccatagg ctacccagga tggcaggccc aggccacgcc ccactccagc ggcagctatc
     1861 tgtgacccag gatgaccccg agagcctcgg ggtggggctc cccaatgggc tggatggggt
     1921 ggaagaagaa gatgatgacg actacgtaac cctcagtgac caggacagcc actcaggcag
     1981 ctccggccgt ggccctggcc cccgacggcc ctcagtggct tcctctgtgt cagaggagta
     2041 cttcgaggtg agagagcact cagtccctct ccggaggcgc cactcagagc aagtggccaa
     2101 cgggccaacc ccaccaccgc gccggcagct gagtgccccc catataaccc gagggacctt
     2161 tgttggaccc cagggtggct ccccatgggc ccagagtcgg ggaagagaag aagcagatgc
     2221 gttgaagagg atgcaggccc agcgctccac agacaaggag gcacagggcc agcagtttca
     2281 tcatcacagg gtccctgcct cagggactag ggataaagac ggcttcccag gaccccctag
     2341 gtaccgctct gctgctgaca gcgtccagag ctctaccaga aacgctggcc cagccatggc
     2401 tggcccccac cactggcagg ccaagggagg tcaggtaccc cgcctgcttc cggatcccgg
     2461 cagcccaaga ctggcccaaa atgcccgccc catgaccgat ggcagggcca ccgaggagca
     2521 tccgagtccc ttcggaatcc catactccaa actgtctcag tcgaagcacc taaaggccag
     2581 gacgggcggt agccagtggg cctcatcgga ttctaaacgg agggctcaag ccccccggga
     2641 ccgcaaagac ccctagcagc atgtcccagc ctggagccac accttctgag gccccagccc
     2701 agactcatga cgcggagggc agacaggccg cctgggccta ccagagccca ctgggacggc
     2761 aggaaggtgg gatgggcggg agacgttggc actcacctgg tcggtgcacc agtaccaggt
     2821 ggccatgatg gtcaggccaa aggtcatccc ggtccacggc aggtcccctg tgtgggggtc
     2881 tcgaaacatg tgcatggcgt ctgtacgtgg caggtggcag gtggtgttgg caatggtcct
     2941 ggagggaatg gcctgggcgt aggctgcctc cagctgcccg taaccaccga tctggtcaaa
     3001 agctggaggg gtcagggtgg aacagggaca gtttggtggt tgcggggccc tgactccctg
     3061 ggctcccccc tgccttcatc tcacaagaaa cttcctgatg catcaaactt gagttttttc
     3121 cacctcatct ttcccagtgt ttggaaaggt gtgagggtag agggttgttt ttttttttaa
     3181 ggtgtatttg aatgactatt ttattcgtat ttaaaataat actattaagt aagcattttg
     3241 cacatgggca ccccagtgtc ccgctggccc agcaggagtc actgttggcc tctggacact
     3301 catcggcctt gggcaagtgg ttctcagcca ggtttccgat tgtcgattca aggaagcaaa
     3361 agtaattttt cttgacattt gaggaccttc ctgaggcttc taaagtgttc atcctgatca
     3421 cctgaagggt gtgattttag cagagctgag agtggctggt ggtgatgtgg ccccaccccc
     3481 tgaggcacag agaagaggga gacaggtcca gagagggatg gggcctccac caagaccata
     3541 tagaccatct ggcgggctca agccggggct ttttcctctc cagtccaaaa cacctcactg
     3601 ttcctgtcta cctcggggtc agggcccggc atggccaagc cctggcccat ctgtgtctgt
     3661 gtcactcccc tcccttccag actgggcctg gctgctggga tccctctcat gcggtgggtc
     3721 ccagggacac tagagcccct ggtctgagag ggagaagcct ggatgtagga aaacccgttt
     3781 ccaccccagg ccctactccc tagccttttc caagtgggac atggaagagg cagcctgctg
     3841 cctggatgct ggtctcccca gcatcactgt tcccatggag ctcaggtcag gctctgtatt
     3901 cagaccgagg gtttgtgtga ggctcagagc aaatgaacaa gtgccattca agggttagaa
     3961 actgctcagc cacagggtcc cagtgtctga gtctggaaga gtctttagag atttgttcac
     4021 tctctgaggg atcctcctgg ctctgcttac atacttccag ggacggtgag ctcacgctct
     4081 ctccgggcag ccctgtgagt ttcctatctg ttccagacta gtatcgccaa tctctcccag
     4141 ctctcttctt tcctccctgg cctttgtcct gcaggaggta gcatcacctc ttggcatttt
     4201 gtacatgctt ttaaacaatt ggaggagctg cccaggcagt tttatggcct cctggttgtg
     4261 tgccttcaca cccgcctaca gccccacctc accatcaagc gctgagccaa tgcgggtgtg
     4321 gctggccctg agttcctgag tcagctcctt gccagggcca gagctggtaa cagcggggca
     4381 gcagggtggg tagcctctac cagccagggc agtccctgag gggccagcag gggggctgac
     4441 tgcctagtgg ctcaacctcc tgaacccacc cactcccagc gatgctaccc agaaccccaa
     4501 cggcatgaat cctgcacagt gccgggcagt gccagactcc aaagggctcg ctgtggggac
     4561 agccccgcca tggccacaga ctctgtcctc acctttgatt gtcaggatga cagcccccac
     4621 caccatgatg agcgtctgca gggcgtccgt gtagattaca gcagccaggc cccctgccag
     4681 tggaagcaag gttgctggag ggggccctgg ccccagggag gagggacacg gggaggaact
     4741 tctggggctc ctgctggggc cacttcctgg gctgctccct cgggcctgta gggggaggtg
     4801 gccttctgac ccctttacac gtcccctggg tggacctccc tgctgcaggc accatacctg
     4861 cgatggtgta cagggctgtg atgccgagcg tgaggatggt ggagaggtag aagttccagc
     4921 ccaggcagat gtgcacaaac agagcccccg cgtacaggtc cagctgcgga gggagagagc
     4981 cttgtgtggg actgttattc ccagggctcc agcaagccac tccctgggtg acctcgggca
     5041 aggccctctc tgggcctcgg tggcctgtgg ataaggaggg gagaccccca ctcgcctgcc
     5101 tgcctgcatc acggggccat tgtgaggttg ggggaagacc tggccgtgga gctacaagct
     5161 tgtgcggatg tcaggggaca ttactgttgc taataaagtc caaagtggcc aatgcctttc
     5221 ccaaaa
//
LOCUS       NM_001040               1267 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens sex hormone binding globulin (SHBG), transcript variant
            1, mRNA.
ACCESSION   NM_001040
VERSION     NM_001040.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1267)
  AUTHORS   Watz MES, Tivesten A, Ottarsdottir K, Li Y, Hellgren MI, Lindblad U
            and Daka B.
  TITLE     Sex hormone-binding globulin levels and development of hypertension
            in middle-aged men and women
  JOURNAL   J Hypertens 41 (10), 1565-1570 (2023)
   PUBMED   37436403
  REMARK    GeneRIF: Sex hormone-binding globulin levels and development of
            hypertension in middle-aged men and women.
REFERENCE   2  (bases 1 to 1267)
  AUTHORS   Jiang Y, Liu Q, Alfredsson L, Klareskog L, Kockum I and Jiang X.
  TITLE     A genome-wide cross-trait analysis identifies genomic correlation,
            pleiotropic loci, and causal relationship between sex
            hormone-binding globulin and rheumatoid arthritis
  JOURNAL   Hum Genomics 17 (1), 81 (2023)
   PUBMED   37644603
  REMARK    GeneRIF: A genome-wide cross-trait analysis identifies genomic
            correlation, pleiotropic loci, and causal relationship between sex
            hormone-binding globulin and rheumatoid arthritis. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 1267)
  AUTHORS   Zhang W, Zhang H, Wang B, Wang Y, Wang N and Lu Y.
  TITLE     Sex hormone-binding globulin, genetic susceptibility, and the risk
            of type 2 diabetes in men and postmenopausal women
  JOURNAL   Chin Med J (Engl) 136 (16), 1993-1995 (2023)
   PUBMED   37468926
  REMARK    GeneRIF: Sex hormone-binding globulin, genetic susceptibility, and
            the risk of type 2 diabetes in men and postmenopausal women.
REFERENCE   4  (bases 1 to 1267)
  AUTHORS   Xu P, Zeng R, Wan Q, Xie Y, Liu X, An S, Jiang J, Yang J, Zhou Y and
            Shen X.
  TITLE     Aging-related increases in serum sex hormone-binding globulin levels
            in men might be related to increased synthesis
  JOURNAL   Exp Gerontol 179, 112249 (2023)
   PUBMED   37392803
  REMARK    GeneRIF: Aging-related increases in serum sex hormone-binding
            globulin levels in men might be related to increased synthesis.
REFERENCE   5  (bases 1 to 1267)
  AUTHORS   Osmancevic A, Daka B, Michos ED, Trimpou P and Allison M.
  TITLE     The Association between Inflammation, Testosterone and SHBG in men:
            A cross-sectional Multi-Ethnic Study of Atherosclerosis
  JOURNAL   Clin Endocrinol (Oxf) 99 (2), 190-197 (2023)
   PUBMED   37221937
  REMARK    GeneRIF: The Association between Inflammation, Testosterone and SHBG
            in men: A cross-sectional Multi-Ethnic Study of Atherosclerosis.
REFERENCE   6  (bases 1 to 1267)
  AUTHORS   Power SG, Bocchinfuso WP, Pallesen M, Warmels-Rodenhiser S, Van
            Baelen H and Hammond GL.
  TITLE     Molecular analyses of a human sex hormone-binding globulin variant:
            evidence for an additional carbohydrate chain
  JOURNAL   J Clin Endocrinol Metab 75 (4), 1066-1070 (1992)
   PUBMED   1400872
REFERENCE   7  (bases 1 to 1267)
  AUTHORS   Berube D, Seralini GE, Gagne R and Hammond GL.
  TITLE     Localization of the human sex hormone-binding globulin gene (SHBG)
            to the short arm of chromosome 17 (17p12----p13)
  JOURNAL   Cytogenet Cell Genet 54 (1-2), 65-67 (1990)
   PUBMED   2249477
REFERENCE   8  (bases 1 to 1267)
  AUTHORS   Gershagen S, Lundwall A and Fernlund P.
  TITLE     Characterization of the human sex hormone binding globulin (SHBG)
            gene and demonstration of two transcripts in both liver and testis
  JOURNAL   Nucleic Acids Res 17 (22), 9245-9258 (1989)
   PUBMED   2587256
REFERENCE   9  (bases 1 to 1267)
  AUTHORS   Hammond GL, Underhill DA, Rykse HM and Smith CL.
  TITLE     The human sex hormone-binding globulin gene contains exons for
            androgen-binding protein and two other testicular messenger RNAs
  JOURNAL   Mol Endocrinol 3 (11), 1869-1876 (1989)
   PUBMED   2608061
REFERENCE   10  (bases 1 to 1267)
  AUTHORS   Que,B.G. and Petra,P.H.
  TITLE     Characterization of a cDNA coding for sex steroid-binding protein of
            human plasma
  JOURNAL   FEBS Lett 219 (2), 405-409 (1987)
   PUBMED   2956125
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.21847.1, BC101785.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000380450.9/ ENSP00000369816.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from EU352659.1 and BC101785.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001040.4.
            Summary: This gene encodes a steroid binding protein that was first
            described as a plasma protein secreted by the liver but is now
            thought to participate in the regulation of steroid responses. The
            encoded protein transports androgens and estrogens in the blood,
            binding each steroid molecule as a dimer formed from identical or
            nearly identical monomers. Polymorphisms in this gene have been
            associated with polycystic ovary syndrome and type 2 diabetes
            mellitus. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jan 2014].
            Transcript Variant: This variant (1), which has also been referred
            to as SHBG-L, encodes the longest protein (isoform 1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1267
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..1267
                     /gene="SHBG"
                     /gene_synonym="ABP; SBP; TEBG"
                     /note="sex hormone binding globulin"
                     /db_xref="GeneID:6462"
                     /db_xref="HGNC:HGNC:10839"
                     /db_xref="MIM:182205"
     CDS             39..1247
                     /gene="SHBG"
                     /gene_synonym="ABP; SBP; TEBG"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; testosterone-binding beta-globulin; sex steroid-binding
                     protein; testis-specific androgen-binding protein;
                     testosterone-estrogen-binding globulin;
                     testosterone-estradiol-binding globulin"
                     /codon_start=1
                     /product="sex hormone-binding globulin isoform 1 precursor"
                     /protein_id="NP_001031.2"
                     /db_xref="CCDS:CCDS11117.1"
                     /db_xref="GeneID:6462"
                     /db_xref="HGNC:HGNC:10839"
                     /db_xref="MIM:182205"
                     /translation="MESRGPLATSRLLLLLLLLLLRHTRQGWALRPVLPTQSAHDPPAV
                     HLSNGPGQEPIAVMTFDLTKITKTSSSFEVRTWDPEGVIFYGDTNPKDDWFMLGLRDGR
                     PEIQLHNHWAQLTVGAGPRLDDGRWHQVEVKMEGDSVLLEVDGEEVLRLRQVSGPLTSK
                     RHPIMRIALGGLLFPASNLRLPLVPALDGCLRRDSWLDKQAEISASAPTSLRSCDVESN
                     PGIFLPPGTQAEFNLRDIPQPHAEPWAFSLDLGLKQAAGSGHLLALGTPENPSWLSLHL
                     QDQKVVLSSGSGPGLDLPLVLGLPLQLKLSMSRVVLSQGSKMKALALPPLGLAPLLNLW
                     AKPQGRLFLGALPGEDSSTSFCLNGLWAQGQRLDVDQALNRSHEIWTHSCPQSPGNGTD
                     ASH"
     sig_peptide     39..125
                     /gene="SHBG"
                     /gene_synonym="ABP; SBP; TEBG"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     126..1244
                     /gene="SHBG"
                     /gene_synonym="ABP; SBP; TEBG"
                     /product="Sex hormone-binding globulin.
                     /evidence=ECO:0000269|PubMed:3542030. /id=PRO_0000032557"
                     /note="propagated from UniProtKB/Swiss-Prot (P04278.2)"
     misc_feature    144..146
                     /gene="SHBG"
                     /gene_synonym="ABP; SBP; TEBG"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:1400872. /id=CAR_000174;
                     propagated from UniProtKB/Swiss-Prot (P04278.2);
                     glycosylation site"
     misc_feature    1176..1178
                     /gene="SHBG"
                     /gene_synonym="ABP; SBP; TEBG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:3542030;
                     propagated from UniProtKB/Swiss-Prot (P04278.2);
                     glycosylation site"
     misc_feature    1224..1226
                     /gene="SHBG"
                     /gene_synonym="ABP; SBP; TEBG"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:1400872,
                     ECO:0000269|PubMed:3542030; propagated from
                     UniProtKB/Swiss-Prot (P04278.2); glycosylation site"
     regulatory      1243..1248
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHBG"
                     /gene_synonym="ABP; SBP; TEBG"
                     /note="hexamer: ATTAAA"
     polyA_site      1267
                     /gene="SHBG"
                     /gene_synonym="ABP; SBP; TEBG"
                     /note="major polyA site"
ORIGIN
        1 aagagttgtc tgagccgccg agtggacagt ggctgattat ggagagcaga ggcccactgg
       61 ctacctcgcg cctgctgctg ttgctgctgt tgctactact gcgtcacacc cgccagggat
      121 gggccctgag acctgttctc cccacccaga gtgcccacga ccctccggct gtccacctca
      181 gcaatggccc aggacaagag cctatcgctg tcatgacctt tgacctcacc aagatcacaa
      241 aaacctcctc ctcctttgag gttcgaacct gggacccaga gggagtgatt ttttatgggg
      301 ataccaaccc taaggatgac tggtttatgc tgggacttcg agacggcagg cctgagatcc
      361 aactgcacaa tcactgggcc cagcttacgg tgggtgctgg accacggctg gatgatggga
      421 gatggcacca ggtggaagtc aagatggagg gggactctgt gctgctggag gtggatgggg
      481 aggaggtgct gcgcctgaga caggtctctg ggcccctgac cagcaaacgc catcccatca
      541 tgaggattgc gcttgggggg ctgctcttcc ccgcttccaa ccttcggttg ccgctggttc
      601 ctgccctgga tggctgcctg cgccgggatt cctggctgga caaacaggcc gagatctcag
      661 catctgcccc cactagcctc agaagctgtg atgtagaatc aaatcccggg atatttctcc
      721 ctccagggac tcaggcagaa ttcaatctcc gagacattcc ccagcctcat gcagagccct
      781 gggccttctc tttggacctg ggactcaagc aggcagcagg ctcaggccac ctccttgctc
      841 ttgggacacc agagaaccca tcttggctca gtctccacct ccaagatcaa aaggtggtgt
      901 tgtcttctgg gtcggggcca gggctggatc tgcccctggt cttgggactc cctcttcagc
      961 tgaagctgag tatgtccagg gtggtcttga gccaagggtc gaagatgaag gcccttgccc
     1021 tgcctccctt aggcctggct cccctcctta acctctgggc caagcctcaa gggcgtctct
     1081 tcctgggggc tttaccagga gaagactctt ccacctcttt ttgcctgaat ggcctttggg
     1141 cacaaggtca gaggctggat gtggaccagg ccctgaacag aagccatgag atctggactc
     1201 acagctgccc ccagagccca ggcaatggca ctgacgcttc ccattaaagc tccacctaag
     1261 aaccccc
//
LOCUS       NM_001040023            4580 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens signal regulatory protein alpha (SIRPA), transcript
            variant 2, mRNA.
ACCESSION   NM_001040023
VERSION     NM_001040023.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4580)
  AUTHORS   Tomiyama T, Itoh S, Iseda N, Toshida K, Kosai-Fujimoto Y, Tomino T,
            Kurihara T, Nagao Y, Morita K, Harada N, Liu YC, Okuzaki D, Kohashi
            K, Oda Y, Mori M and Yoshizumi T.
  TITLE     ASO Visual Abstract: Clinical Significance of Signal Regulatory
            Protein Alpha (SIRPalpha) Expression in Hepatocellular Carcinoma
  JOURNAL   Ann Surg Oncol 30 (6), 3390-3391 (2023)
   PUBMED   36763288
  REMARK    GeneRIF: ASO Visual Abstract: Clinical Significance of Signal
            Regulatory Protein Alpha (SIRPalpha) Expression in Hepatocellular
            Carcinoma.
REFERENCE   2  (bases 1 to 4580)
  AUTHORS   Tomiyama T, Itoh S, Iseda N, Toshida K, Kosai-Fujimoto Y, Tomino T,
            Kurihara T, Nagao Y, Morita K, Harada N, Liu YC, Ozaki D, Kohashi K,
            Oda Y, Mori M and Yoshizumi T.
  TITLE     Clinical Significance of Signal Regulatory Protein Alpha (SIRPalpha)
            Expression in Hepatocellular Carcinoma
  JOURNAL   Ann Surg Oncol 30 (6), 3378-3389 (2023)
   PUBMED   36641515
  REMARK    GeneRIF: Clinical Significance of Signal Regulatory Protein Alpha
            (SIRPalpha) Expression in Hepatocellular Carcinoma.
REFERENCE   3  (bases 1 to 4580)
  AUTHORS   Erdem N, Chen KT, Qi M, Zhao Y, Wu X, Garcia I, Ku HT, Montero E,
            Al-Abdullah IH, Kandeel F, Roep BO and Isenberg JS.
  TITLE     Thrombospondin-1, CD47, and SIRPalpha display cell-specific
            molecular signatures in human islets and pancreata
  JOURNAL   Am J Physiol Endocrinol Metab 324 (4), E347-E357 (2023)
   PUBMED   36791324
  REMARK    GeneRIF: Thrombospondin-1, CD47, and SIRPalpha display cell-specific
            molecular signatures in human islets and pancreata.
REFERENCE   4  (bases 1 to 4580)
  AUTHORS   Wang D, Lin Y, Xu F, Zhang H, Zhu X, Liu Z, Hu Y, Dong G, Sun B, Yu
            Y, Ma G, Tang Z, Legarda D, Ting A, Liu Y, Hou J, Dong L and Xiong
            H.
  TITLE     SIRPalpha maintains macrophage homeostasis by interacting with PTK2B
            kinase in Mycobacterium tuberculosis infection and through autophagy
            and necroptosis
  JOURNAL   EBioMedicine 85, 104278 (2022)
   PUBMED   36202053
  REMARK    GeneRIF: SIRPalpha maintains macrophage homeostasis by interacting
            with PTK2B kinase in Mycobacterium tuberculosis infection and
            through autophagy and necroptosis.
REFERENCE   5  (bases 1 to 4580)
  AUTHORS   Gondois-Rey F, Miller T, Laletin V, Morelli X, Collette Y, Nunes J
            and Olive D.
  TITLE     CD47-SIRPalpha Controls ADCC Killing of Primary T Cells by PMN
            Through a Combination of Trogocytosis and NADPH Oxidase Activation
  JOURNAL   Front Immunol 13, 899068 (2022)
   PUBMED   35795660
  REMARK    GeneRIF: CD47-SIRPalpha Controls ADCC Killing of Primary T Cells by
            PMN Through a Combination of Trogocytosis and NADPH Oxidase
            Activation. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4580)
  AUTHORS   Kharitonenkov A, Chen Z, Sures I, Wang H, Schilling J and Ullrich A.
  TITLE     A family of proteins that inhibit signalling through tyrosine kinase
            receptors
  JOURNAL   Nature 386 (6621), 181-186 (1997)
   PUBMED   9062191
REFERENCE   7  (bases 1 to 4580)
  AUTHORS   Yamao T, Matozaki T, Amano K, Matsuda Y, Takahashi N, Ochi F,
            Fujioka Y and Kasuga M.
  TITLE     Mouse and human SHPS-1: molecular cloning of cDNAs and chromosomal
            localization of genes
  JOURNAL   Biochem Biophys Res Commun 231 (1), 61-67 (1997)
   PUBMED   9070220
REFERENCE   8  (bases 1 to 4580)
  AUTHORS   Fujioka Y, Matozaki T, Noguchi T, Iwamatsu A, Yamao T, Takahashi N,
            Tsuda M, Takada T and Kasuga M.
  TITLE     A novel membrane glycoprotein, SHPS-1, that binds the
            SH2-domain-containing protein tyrosine phosphatase SHP-2 in response
            to mitogens and cell adhesion
  JOURNAL   Mol Cell Biol 16 (12), 6887-6899 (1996)
   PUBMED   8943344
REFERENCE   9  (bases 1 to 4580)
  AUTHORS   Ohnishi H, Kubota M, Ohtake A, Sato K and Sano Si.
  TITLE     Activation of protein-tyrosine phosphatase SH-PTP2 by a
            tyrosine-based activation motif of a novel brain molecule
  JOURNAL   J Biol Chem 271 (41), 25569-25574 (1996)
   PUBMED   8810330
REFERENCE   10  (bases 1 to 4580)
  AUTHORS   Margolis RL, Breschel TS, Li SH, Kidwai AS, Antonarakis SE, McInnis
            MG and Ross CA.
  TITLE     Characterization of cDNA clones containing CCA trinucleotide repeats
            derived from human brain
  JOURNAL   Somat Cell Mol Genet 21 (4), 279-284 (1995)
   PUBMED   8525433
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC038510.2, SRR3476690.1142435.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000358771.5/ ENSP00000351621.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC038510.2, DN989886.1 and
            AL034562.3.
            On Jun 2, 2019 this sequence version replaced NM_001040023.1.
            Summary: The protein encoded by this gene is a member of the
            signal-regulatory-protein (SIRP) family, and also belongs to the
            immunoglobulin superfamily. SIRP family members are receptor-type
            transmembrane glycoproteins known to be involved in the negative
            regulation of receptor tyrosine kinase-coupled signaling processes.
            This protein can be phosphorylated by tyrosine kinases. The
            phospho-tyrosine residues of this PTP have been shown to recruit
            SH2 domain containing tyrosine phosphatases (PTP), and serve as
            substrates of PTPs. This protein was found to participate in signal
            transduction mediated by various growth factor receptors. CD47 has
            been demonstrated to be a ligand for this receptor protein. This
            gene and its product share very high similarity with several other
            members of the SIRP family. These related genes are located in
            close proximity to each other on chromosome 20p13. Multiple
            alternatively spliced transcript variants have been determined for
            this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) differs in the 5' UTR and uses
            an alternate, in-frame, splice donor site in the 3' coding region
            compared to variant 4. This variant encodes a shorter protein
            (isoform 1) compared to isoform 2. Variants 1, 2, and 3 encode the
            same protein (isoform 1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4580
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..4580
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="signal regulatory protein alpha"
                     /db_xref="GeneID:140885"
                     /db_xref="HGNC:HGNC:9662"
                     /db_xref="MIM:602461"
     CDS             42..1556
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /EC_number="3.1.3.48"
                     /note="isoform 1 precursor is encoded by transcript variant
                     2; myd-1 antigen; brain-immunoglobulin-like molecule with
                     tyrosine-based activation motifs; tyrosine phosphatase SHP
                     substrate 1; macrophage fusion receptor; tyrosine-protein
                     phosphatase non-receptor type substrate 1; inhibitory
                     receptor SHPS-1; CD172 antigen-like family member A"
                     /codon_start=1
                     /product="tyrosine-protein phosphatase non-receptor type
                     substrate 1 isoform 1 precursor"
                     /protein_id="NP_001035112.1"
                     /db_xref="CCDS:CCDS13022.1"
                     /db_xref="GeneID:140885"
                     /db_xref="HGNC:HGNC:9662"
                     /db_xref="MIM:602461"
                     /translation="MEPAGPAPGRLGPLLCLLLAASCAWSGVAGEEELQVIQPDKSVLV
                     AAGETATLRCTATSLIPVGPIQWFRGAGPGRELIYNQKEGHFPRVTTVSDLTKRNNMDF
                     SIRIGNITPADAGTYYCVKFRKGSPDDVEFKSGAGTELSVRAKPSAPVVSGPAARATPQ
                     HTVSFTCESHGFSPRDITLKWFKNGNELSDFQTNVDPVGESVSYSIHSTAKVVLTREDV
                     HSQVICEVAHVTLQGDPLRGTANLSETIRVPPTLEVTQQPVRAENQVNVTCQVRKFYPQ
                     RLQLTWLENGNVSRTETASTVTENKDGTYNWMSWLLVNVSAHRDDVKLTCQVEHDGQPA
                     VSKSHDLKVSAHPKEQGSNTAAENTGSNERNIYIVVGVVCTLLVALLMAALYLVRIRQK
                     KAQGSTSSTRLHEPEKNAREITQDTNDITYADLNLPKGKKPAPQAAEPNNHTEYASIQT
                     SPQPASEDTLTYADLDMVHLNRTPKQPAPKPEPSFSEYASVQVPRK"
     sig_peptide     42..131
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     132..1553
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /product="Tyrosine-protein phosphatase non-receptor type
                     substrate 1. /id=PRO_0000014941"
                     /note="propagated from UniProtKB/Swiss-Prot (P78324.2)"
     misc_feature    774..776
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P78324.2); glycosylation site"
     misc_feature    849..851
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P78324.2); glycosylation site"
     misc_feature    915..917
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P78324.2); glycosylation site"
     misc_feature    996..998
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78324.2); glycosylation site"
     misc_feature    1047..1133
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="propagated from UniProtKB/Swiss-Prot (P78324.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1161..1223
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="propagated from UniProtKB/Swiss-Prot (P78324.2);
                     transmembrane region"
     misc_feature    1245..1553
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="propagated from UniProtKB/Swiss-Prot (P78324.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1326..1337
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="propagated from UniProtKB/Swiss-Prot (P78324.2);
                     Region: SH2-binding. /evidence=ECO:0000255"
     misc_feature    1326..1328
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="Phosphotyrosine, by Tyr-kinases.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78324.2); phosphorylation site"
     misc_feature    1356..1373
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="propagated from UniProtKB/Swiss-Prot (P78324.2);
                     Region: SH3-binding. /evidence=ECO:0000255"
     misc_feature    1398..1409
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="propagated from UniProtKB/Swiss-Prot (P78324.2);
                     Region: SH2-binding. /evidence=ECO:0000255"
     misc_feature    1398..1400
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="Phosphotyrosine, by Tyr-kinases.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P78324.2); phosphorylation site"
     misc_feature    1449..1460
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="propagated from UniProtKB/Swiss-Prot (P78324.2);
                     Region: SH2-binding. /evidence=ECO:0000255"
     misc_feature    1449..1451
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="Phosphotyrosine, by Tyr-kinases.
                     /evidence=ECO:0000250|UniProtKB:P97710; propagated from
                     UniProtKB/Swiss-Prot (P78324.2); phosphorylation site"
     misc_feature    1527..1538
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="propagated from UniProtKB/Swiss-Prot (P78324.2);
                     Region: SH2-binding. /evidence=ECO:0000255"
     misc_feature    1527..1529
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P78324.2); phosphorylation site"
     regulatory      3858..3863
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="hexamer: AATAAA"
     polyA_site      3882
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="major polyA site"
     regulatory      4554..4559
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
                     /note="hexamer: AATAAA"
     polyA_site      4580
                     /gene="SIRPA"
                     /gene_synonym="BIT; CD172A; MFR; MYD-1; P84; PTPNS1; SHPS1;
                     SIRP"
ORIGIN
        1 actcacggcc gctctccctc ctcgctccgc agccgcggcc catggagccc gccggcccgg
       61 cccccggccg cctcgggccg ctgctctgcc tgctgctcgc cgcgtcctgc gcctggtcag
      121 gagtggcggg tgaggaggag ctgcaggtga ttcagcctga caagtccgtg ttggttgcag
      181 ctggagagac agccactctg cgctgcactg cgacctctct gatccctgtg gggcccatcc
      241 agtggttcag aggagctgga ccaggccggg aattaatcta caatcaaaaa gaaggccact
      301 tcccccgggt aacaactgtt tcagacctca caaagagaaa caacatggac ttttccatcc
      361 gcatcggtaa catcacccca gcagatgccg gcacctacta ctgtgtgaag ttccggaaag
      421 ggagccccga tgacgtggag tttaagtctg gagcaggcac tgagctgtct gtgcgcgcca
      481 aaccctctgc ccccgtggta tcgggccctg cggcgagggc cacacctcag cacacagtga
      541 gcttcacctg cgagtcccac ggcttctcac ccagagacat caccctgaaa tggttcaaaa
      601 atgggaatga gctctcagac ttccagacca acgtggaccc cgtaggagag agcgtgtcct
      661 acagcatcca cagcacagcc aaggtggtgc tgacccgcga ggacgttcac tctcaagtca
      721 tctgcgaggt ggcccacgtc accttgcagg gggaccctct tcgtgggact gccaacttgt
      781 ctgagaccat ccgagttcca cccaccttgg aggttactca acagcccgtg agggcagaga
      841 accaggtgaa tgtcacctgc caggtgagga agttctaccc ccagagacta cagctgacct
      901 ggttggagaa tggaaacgtg tcccggacag aaacggcctc aaccgttaca gagaacaagg
      961 atggtaccta caactggatg agctggctcc tggtgaatgt atctgcccac agggatgatg
     1021 tgaagctcac ctgccaggtg gagcatgacg ggcagccagc ggtcagcaaa agccatgacc
     1081 tgaaggtctc agcccacccg aaggagcagg gctcaaatac cgccgctgag aacactggat
     1141 ctaatgaacg gaacatctat attgtggtgg gtgtggtgtg caccttgctg gtggccctac
     1201 tgatggcggc cctctacctc gtccgaatca gacagaagaa agcccagggc tccacttctt
     1261 ctacaaggtt gcatgagccc gagaagaatg ccagagaaat aacacaggac acaaatgata
     1321 tcacatatgc agacctgaac ctgcccaagg ggaagaagcc tgctccccag gctgcggagc
     1381 ccaacaacca cacggagtat gccagcattc agaccagccc gcagcccgcg tcggaggaca
     1441 ccctcaccta tgctgacctg gacatggtcc acctcaaccg gacccccaag cagccggccc
     1501 ccaagcctga gccgtccttc tcagagtacg ccagcgtcca ggtcccgagg aagtgaatgg
     1561 gaccgtggtt tgctctagca cccatctcta cgcgctttct tgtcccacag ggagccgccg
     1621 tgatgagcac agccaaccca gttcccggag ggctggggcg gtgcaggctc tgggacccag
     1681 gggccagggt ggctcttctc tccccacccc tccttggctc tccagcactt cctgggcagc
     1741 cacggccccc tccccccaca ttgccacata cctggaggct gacgttgcca aaccagccag
     1801 ggaaccaacc tgggaagtgg ccagaactgc ctggggtcca agaactcttg tgcctccgtc
     1861 catcaccatg tgggttttga agaccctcga ctgcctcccc gatgctccga agcctgatct
     1921 tccagggtgg ggaggagaaa atcccacctc ccctgacctc caccacctcc accaccacca
     1981 ccaccaccac caccaccact accaccacca cccaactggg gctagagtgg ggaagatttc
     2041 ccctttagat caaactgccc cttccatgga aaagctggaa aaaaactctg gaacccatat
     2101 ccaggcttgg tgaggttgct gccaacagtc ctggcctccc ccatccctag gctaaagagc
     2161 catgagtcct ggaggaggag aggacccctc ccaaaggact ggagacaaaa ccctctgctt
     2221 ccttgggtcc ctccaagact ccctggggcc caactgtgtt gctccacccg gacccatctc
     2281 tcccttctag acctgagctt gcccctccag ctagcactaa gcaacatctc gctgtggacg
     2341 cctgtaaatt actgagaaat gtgaaacgtg caatcttgaa actgaggtgt tagaaaactt
     2401 gatctgtggt gttttgtttt gttttttttc ttaaaacaac agcaacgtga tcttggctgt
     2461 ctgtcatgtg ttgaagtcca tggttgggtc ttgtgaagtc tgaggtttaa cagtttgttg
     2521 tcctggaggg attttcttac agcgaagact tgagttcctc caagtcccag aaccccaaga
     2581 atgggcaaga aggatcaggt cagccactcc ctggagacac agccttctgg ctgggactga
     2641 cttggccatg ttctcagctg agccacgcgg ctggtagtgc agccttctgt gaccccgctg
     2701 tggtaagtcc agcctgccca gggctgctga gggctgcctc ttgacagtgc agtcttatcg
     2761 agacccaatg cctcagtctg ctcatccgta aagtggggat agtgaagatg acacccctcc
     2821 ccaccacctc tcataagcac tttaggaaca cacagagggt agggatagtg gccctggccg
     2881 tctatcctac ccctttagtg accgccccca tcccggcttt ctgagctgat ccttgaagaa
     2941 gaaatcttcc atttctgctc tcaaacccta ctgggatcaa actggaataa attgaagaca
     3001 gccaggggga tggtgcagct gtgaagctcg ggctgattcc ccctctgtcc cagaaggttg
     3061 gccagagggt gtgacccagt taccctttaa cccccaccct tccagtcggg tgtgagggcc
     3121 tgaccgggcc cagggcaagc agatgtcgca agccctattt attcagtctt cactataact
     3181 cttagagttg agacgctaat gttcatgact cctggccttg ggatgcccaa gggatttctg
     3241 gctcaggctg taaaagtagc tgagccatcc tgcccattcc tggaggtcct acaggtgaaa
     3301 ctgcaggagc tcagcataga cccagctctc tgggggatgg tcacctggtg atttcaatga
     3361 tggcatccag gaattagctg agccaacaga ccatgtggac agctttggcc agagctcccg
     3421 tgtggcatct gggagccaca gtgacccagc cacctggctc aggctagttc caaattccaa
     3481 aagattggct tgtaaacctt cgtctccctc tcttttaccc agagacagca catacgtgtg
     3541 cacacgcatg cacacacaca ttcagtattt taaaagaatg ttttcttggt gccattttca
     3601 ttttatttta ttttttaatt cttggagggg gaaataaggg aataaggcca aggaagatgt
     3661 atagctttag ctttagcctg gcaacctgga gaatccacat accttgtgta ttgaacccca
     3721 ggaaaaggaa gaggtcgaac caaccctgcg gaaggagcat ggtttcagga gtttatttta
     3781 agactgctgg gaaggaaaca ggccccattt tgtatatagt tgcaacttaa actttttggc
     3841 ttgcaaaata tttttgtaat aaagatttct gggtaataat gagtccttcc ggtgttcagt
     3901 attcttgtct ttgtgagtgc gtcccggggc cgcctcgggg cctgcctgcc ctcctgccaa
     3961 agcctggaag aggattgaat ggaccccagg gtttggaaac aacctacagc atttgagccc
     4021 ctcacgtagg ttttagagac gtacaatttt tgtttgccct ggctcagaag gagccggtgt
     4081 aaggttgaga taaaattcca tatagacaac tgagtttgga tctcggctct gctgctttgt
     4141 agctgtggga gttcaaacag cacctctttg agacttgggc cccgcgtcgg cacaatgggg
     4201 caggaatagt ccctgccagg gtgactgtgt ggattcaagg aggttggaag cactgagccc
     4261 acgcttggca ctgggtaggc catcactgag gcttgtgtct ttccttcctg ccctgaccct
     4321 gcatagctga gtctcgtggc ctctcaccac tgatgggatc tcggacaccc ggctcaccct
     4381 cctcctgggg cctcactttc cttccccacc aaatgcagac atctaatgct tgtcctgtaa
     4441 tatccttgcc agatgactga tgtcaagtgc tggtttatag tgggtgctca ataaatgtta
     4501 gtttcctttc tatccctcca ttagatcatt aatgatatta gtgctaatta tgtaataaag
     4561 ttaaggcata aatatgttaa
//
LOCUS       NM_001040025            1087 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens ADP ribosylation factor like GTPase 16 (ARL16),
            transcript variant 1, mRNA.
ACCESSION   NM_001040025
VERSION     NM_001040025.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1087)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1087)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1087)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1087)
  AUTHORS   Yang YK, Qu H, Gao D, Di W, Chen HW, Guo X, Zhai ZH and Chen DY.
  TITLE     ARF-like protein 16 (ARL16) inhibits RIG-I by binding with its
            C-terminal domain in a GTP-dependent manner
  JOURNAL   J Biol Chem 286 (12), 10568-10580 (2011)
   PUBMED   21233210
  REMARK    GeneRIF: ARF-like protein 16 (ARL16) inhibits RIG-I by binding with
            its C-terminal domain in a GTP-dependent manner
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK304718.1, BC042380.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000622299.5/ ENSP00000483183.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139530.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 18, 2020 this sequence version replaced NM_001040025.2.
            Summary: The protein encoded by this gene belongs to the ARL
            (ADP-ribosylation factor-like) family of proteins, which are
            structurally related to ADP-ribosylation factors (ARFs). This
            protein has been shown to have an inhibitory role in the cellular
            antiviral response. This gene product interacts with the C-terminal
            domain of the DEXD/H-box helicase 58 (DDX58) gene product. This
            interaction was found to suppress the association between the DDX58
            gene product and RNA, thereby negatively regulating the activity of
            the DDX58 gene product. [provided by RefSeq, Jul 2016].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1087
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..1087
                     /gene="ARL16"
                     /note="ADP ribosylation factor like GTPase 16"
                     /db_xref="GeneID:339231"
                     /db_xref="HGNC:HGNC:27902"
                     /db_xref="MIM:619117"
     CDS             45..566
                     /gene="ARL16"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ADP-ribosylation factor-like protein 16"
                     /codon_start=1
                     /product="ADP-ribosylation factor-like protein 16 isoform
                     1"
                     /protein_id="NP_001035114.2"
                     /db_xref="CCDS:CCDS45813.2"
                     /db_xref="GeneID:339231"
                     /db_xref="HGNC:HGNC:27902"
                     /db_xref="MIM:619117"
                     /translation="MCLLLGATGVGKTLLVKRLQEVSSRDGKGDLGEPPPTRPTVGTNL
                     TDIVAQRKITIRELGGCMGPIWSSYYGNCRSLLFVMDASDPTQLSASCVQLLGLLSAEQ
                     LAEASVLILFNKIDLPCYMSTEEMKSLIRLPDIIACAKQNITTAEISAREGTGLAGVLA
                     WLQATHRAND"
     regulatory      1068..1073
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARL16"
                     /note="hexamer: AATAAA"
     polyA_site      1087
                     /gene="ARL16"
                     /note="major polyA site"
ORIGIN
        1 gccgcggcgc cgagctacgg gtgccgggtg gagcgaagca cggaatgtgt ctcctgctgg
       61 gggccacggg cgtcgggaag acgctgctgg tgaaacggct gcaggaggtg agctcccggg
      121 atgggaaagg cgacctgggg gagccgcccc cgacacggcc cacggtgggc accaatctta
      181 ctgacatcgt ggcacagaga aagatcacca tccgggagct tggggggtgc atgggcccca
      241 tctggtccag ttactatgga aactgccgtt ctctcctgtt tgtgatggac gcctctgacc
      301 ccacccagct ctctgcatcc tgtgtgcagc tcttaggtct cctttctgca gaacaacttg
      361 cagaagcatc ggtgctgata ctcttcaata aaatcgacct accctgttac atgtccacgg
      421 aggagatgaa gtcattaatc aggcttccag acatcattgc ttgtgccaag cagaacatca
      481 ccacggcaga aatcagcgcc cgtgaaggca ctggcttagc aggggtgctg gcctggctcc
      541 aggccaccca cagagccaac gattgactgc acggcagagg cgcagctggc ctgagctggg
      601 gagaggtggc agagggcagt atggctttgc tgccaatagt ttcttctcac aggggcagaa
      661 taacccaaag taaccctaca tgatggggct ctgtgctgag atgcaatgat gtgtaaactg
      721 aggcatgtgg agatggaagt tgacatctgg cctctgaaaa aagtgtcccc aggggctagg
      781 catggtggct cacacctgta atcccagcac tttgagaggc cgaggcgggt gtatcacctg
      841 aggtcgggag ttcgagacta gcctgaccaa catggagaaa ccctgtctct actaaaaata
      901 caaaattagc tgggtgtgct ggtgcatgcc tgtaatctca gctacttggg aggctgagac
      961 aggagaatcc cttgaacctg ggaggtggag gttgcagtga gtcgagatca tgccattgca
     1021 ctgcacctgg gcaacaagag tgaaactccg tcttaaaaaa tataagaaat aaaaaaataa
     1081 aaacctg
//
LOCUS       NM_001040032            1042 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.
ACCESSION   NM_001040032
VERSION     NM_001040032.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1042)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1042)
  AUTHORS   Weimann M, Grossmann A, Woodsmith J, Ozkan Z, Birth P, Meierhofer D,
            Benlasfer N, Valovka T, Timmermann B, Wanker EE, Sauer S and Stelzl
            U.
  TITLE     A Y2H-seq approach defines the human protein methyltransferase
            interactome
  JOURNAL   Nat Methods 10 (4), 339-342 (2013)
   PUBMED   23455924
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC065837.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000304519.10/ ENSP00000307129.5
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC105001.3.
            On Nov 23, 2018 this sequence version replaced NM_001040032.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1042
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..1042
                     /gene="C8orf74"
                     /note="chromosome 8 open reading frame 74"
                     /db_xref="GeneID:203076"
                     /db_xref="HGNC:HGNC:32296"
     CDS             39..923
                     /gene="C8orf74"
                     /codon_start=1
                     /product="uncharacterized protein C8orf74"
                     /protein_id="NP_001035121.2"
                     /db_xref="CCDS:CCDS47800.1"
                     /db_xref="GeneID:203076"
                     /db_xref="HGNC:HGNC:32296"
                     /translation="MALLTPQGVKEVFQLQRPQGRERLRRLLNWEEFDEQRDSRRSILL
                     DTLYESIIFAVGKGFPWVEVAQVVKFTEELLRETKGCSITEAVTILGNKLRDYRGHFNT
                     THLLALCDYFHHTFIRHYKLYQYVLGQDQQVDLTVAHLEVCMPPHPLPLAEGMDRDLWI
                     HEQQVATLTEAEAQKRADVLLLKEALRLERENSLQKAFAAAAPAQPGQVLERQELESLI
                     CQAVHTQMELLQELLQRQIQNTFAILDLKLQKKTLNLNAPTPIPPPITSHAGQEEALKP
                     QRASKGKKAKARK"
     misc_feature    813..920
                     /gene="C8orf74"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P047.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1024..1029
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8orf74"
                     /note="hexamer: ATTAAA"
     polyA_site      1042
                     /gene="C8orf74"
                     /note="major polyA site"
ORIGIN
        1 agtctggctc cgtctcctgg caaccagatg caggggccat ggcactctta acaccccagg
       61 gagtgaaaga agtcttccaa cttcagagac cacaaggtcg ggagcgcctg cggaggcttc
      121 tgaactggga ggagtttgac gaacagagag actcccggag gagcatcctg ctggacaccc
      181 tctacgagag catcatcttt gcagtgggca aaggcttccc atgggtggag gtggcccagg
      241 tggtcaagtt cacagaagag ctgctaaggg aaaccaaagg ctgctccatt actgaggctg
      301 tgacgatcct ggggaacaag cttagagatt accggggcca tttcaacacc acccacctgc
      361 tggccctctg tgactacttc caccacacct tcatccgcca ctacaaactc taccagtatg
      421 tcctgggcca ggaccagcag gtcgacctga ccgttgccca cctggaggtg tgcatgccac
      481 cccatcccct cccgctggcc gagggcatgg acagggactt gtggatccac gagcagcagg
      541 tggccacact gacggaggcc gaggcacaga agcgcgccga cgtgctgctc ctgaaagagg
      601 cgctgcgcct ggagcgggag aactcgctgc agaaggcgtt cgctgccgcc gcgcctgcgc
      661 agcccggcca ggtcctggag agacaggagt tggagagcct catctgccag gcagtccaca
      721 cccagatgga gctcctgcag gagctgctgc agcgccagat ccagaacaca ttcgccatct
      781 tggacctgaa gcttcagaag aagactctga acctcaacgc ccccacccct atcccgcccc
      841 ccatcaccag ccacgcaggc caggaggaag ccctgaagcc ccaaagagcg agcaaaggaa
      901 agaaagcgaa ggcaaggaag tagaaggtcc cgactgccac acgagactga ctggggacca
      961 gccacccata accatgagcc ttgcggcacg gtgagctcag cacccacaga gagacttctt
     1021 gtgattaaaa gaaacaaacc ca
//
LOCUS       NM_001040058            1561 bp    mRNA    linear   PRI 08-SEP-2023
DEFINITION  Homo sapiens secreted phosphoprotein 1 (SPP1), transcript variant 1,
            mRNA.
ACCESSION   NM_001040058
VERSION     NM_001040058.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1561)
  AUTHORS   Xuan Z, Liu L, Zhang G, Zheng X, Jiang J, Wang K and Huang P.
  TITLE     Novel cell subtypes of SPP1 + S100P+, MS4A1-SPP1 + S100P+ were key
            subpopulations in intrahepatic cholangiocarcinoma
  JOURNAL   Biochim Biophys Acta Gen Subj 1867 (9), 130420 (2023)
   PUBMED   37433400
  REMARK    GeneRIF: Novel cell subtypes of SPP1 + S100P+, MS4A1-SPP1 + S100P+
            were key subpopulations in intrahepatic cholangiocarcinoma.
REFERENCE   2  (bases 1 to 1561)
  AUTHORS   Kidess E, Giesecke Y, Eichhorn I, Mohr R, Jann H, Fischer C,
            Wiedenmann B, Roderburg C, Tacke F and Sigal M.
  TITLE     Osteopontin is a prognostic circulating biomarker in patients with
            neuroendocrine neoplasms
  JOURNAL   J Cancer Res Clin Oncol 149 (12), 10925-10933 (2023)
   PUBMED   37318593
  REMARK    GeneRIF: Osteopontin is a prognostic circulating biomarker in
            patients with neuroendocrine neoplasms.
REFERENCE   3  (bases 1 to 1561)
  AUTHORS   Guo J, Tong CY, Shi JG, Li XJ and Chen XQ.
  TITLE     Deletion of osteopontin in non-small cell lung cancer cells affects
            bone metabolism by regulating miR-34c/Notch1 axis: a clue to bone
            metastasis
  JOURNAL   Eur J Histochem 67 (3), 3631 (2023)
   PUBMED   37491944
  REMARK    GeneRIF: Deletion of osteopontin in non-small cell lung cancer cells
            affects bone metabolism by regulating miR-34c/Notch1 axis: a clue to
            bone metastasis. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1561)
  AUTHORS   Hulsmans M, Schloss MJ, Lee IH, Bapat A, Iwamoto Y, Vinegoni C,
            Paccalet A, Yamazoe M, Grune J, Pabel S, Momin N, Seung H, Kumowski
            N, Pulous FE, Keller D, Bening C, Green U, Lennerz JK, Mitchell RN,
            Lewis A, Casadei B, Iborra-Egea O, Bayes-Genis A, Sossalla S, Ong
            CS, Pierson RN, Aster JC, Rohde D, Wojtkiewicz GR, Weissleder R,
            Swirski FK, Tellides G, Tolis G Jr, Melnitchouk S, Milan DJ, Ellinor
            PT, Naxerova K and Nahrendorf M.
  TITLE     Recruited macrophages elicit atrial fibrillation
  JOURNAL   Science 381 (6654), 231-239 (2023)
   PUBMED   37440641
  REMARK    GeneRIF: Recruited macrophages elicit atrial fibrillation.
REFERENCE   5  (bases 1 to 1561)
  AUTHORS   Yu Y, Mao X, Wang J, Chen M, Wang F, Kong X and Hang H.
  TITLE     SPP1 as a risk factor for patients with acute on chronic liver
            failure undergoing liver transplantation
  JOURNAL   Int Immunopharmacol 120, 110355 (2023)
   PUBMED   37257271
  REMARK    GeneRIF: SPP1 as a risk factor for patients with acute on chronic
            liver failure undergoing liver transplantation.
REFERENCE   6  (bases 1 to 1561)
  AUTHORS   Kohri K, Suzuki Y, Yoshida K, Yamamoto K, Amasaki N, Yamate T,
            Umekawa T, Iguchi M, Sinohara H and Kurita T.
  TITLE     Molecular cloning and sequencing of cDNA encoding urinary stone
            protein, which is identical to osteopontin
  JOURNAL   Biochem Biophys Res Commun 184 (2), 859-864 (1992)
   PUBMED   1575754
REFERENCE   7  (bases 1 to 1561)
  AUTHORS   Shiraga H, Min W, VanDusen WJ, Clayman MD, Miner D, Terrell CH,
            Sherbotie JR, Foreman JW, Przysiecki C, Neilson EG et al.
  TITLE     Inhibition of calcium oxalate crystal growth in vitro by uropontin:
            another member of the aspartic acid-rich protein superfamily
  JOURNAL   Proc Natl Acad Sci U S A 89 (1), 426-430 (1992)
   PUBMED   1729712
REFERENCE   8  (bases 1 to 1561)
  AUTHORS   Young MF, Kerr JM, Termine JD, Wewer UM, Wang MG, McBride OW and
            Fisher LW.
  TITLE     cDNA cloning, mRNA distribution and heterogeneity, chromosomal
            location, and RFLP analysis of human osteopontin (OPN)
  JOURNAL   Genomics 7 (4), 491-502 (1990)
   PUBMED   1974876
REFERENCE   9  (bases 1 to 1561)
  AUTHORS   Fisher LW, McBride OW, Termine JD and Young MF.
  TITLE     Human bone sialoprotein. Deduced protein sequence and chromosomal
            localization
  JOURNAL   J Biol Chem 265 (4), 2347-2351 (1990)
   PUBMED   2404984
REFERENCE   10  (bases 1 to 1561)
  AUTHORS   Kiefer MC, Bauer DM and Barr PJ.
  TITLE     The cDNA and derived amino acid sequence for human osteopontin
  JOURNAL   Nucleic Acids Res 17 (8), 3306 (1989)
   PUBMED   2726470
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1143592.1,
            SRR3476690.158658.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000395080.8/ ENSP00000378517.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB117856.1, BC017387.1 and
            AA665210.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001040058.1.
            Summary: The protein encoded by this gene is involved in the
            attachment of osteoclasts to the mineralized bone matrix. The
            encoded protein is secreted and binds hydroxyapatite with high
            affinity. The osteoclast vitronectin receptor is found in the cell
            membrane and may be involved in the binding to this protein. This
            protein is also a cytokine that upregulates expression of
            interferon-gamma and interleukin-12. Several transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Oct 2011].
            Transcript Variant: This variant (1) differs in the 5' UTR and
            coding sequence compared to variant 5. The resulting isoform
            (OPN-a, as described in PubMed: 7837791) has a shorter and distinct
            N-terminus compared to isoform e.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1561
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q22.1"
     gene            1..1561
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="secreted phosphoprotein 1"
                     /db_xref="GeneID:6696"
                     /db_xref="HGNC:HGNC:11255"
                     /db_xref="MIM:166490"
     CDS             102..1046
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="isoform OPN-a precursor is encoded by transcript
                     variant 1; secreted phosphoprotein 1 (osteopontin, bone
                     sialoprotein I, early T-lymphocyte activation 1);
                     SPP1/CALPHA1 fusion; osteopontin/immunoglobulin alpha 1
                     heavy chain constant region fusion protein; uropontin;
                     lnc-PKD2-2-3; nephropontin; urinary stone protein"
                     /codon_start=1
                     /product="osteopontin isoform OPN-a precursor"
                     /protein_id="NP_001035147.1"
                     /db_xref="CCDS:CCDS43250.1"
                     /db_xref="GeneID:6696"
                     /db_xref="HGNC:HGNC:11255"
                     /db_xref="MIM:166490"
                     /translation="MRIAVICFCLLGITCAIPVKQADSGSSEEKQLYNKYPDAVATWLN
                     PDPSQKQNLLAPQNAVSSEETNDFKQETLPSKSNESHDHMDDMDDEDDDDHVDSQDSID
                     SNDSDDVDDTDDSHQSDESHHSDESDELVTDFPTDLPATEVFTPVVPTVDTYDGRGDSV
                     VYGLRSKSKKFRRPDIQYPDATDEDITSHMESEELNGAYKAIPVAQDLNAPSDWDSRGK
                     DSYETSQLDDQSAETHSHKQSRLYKRKANDESNEHSDVIDSQELSKVSREFHSHEFHSH
                     EDMLVVDPKSKEEDKHLKFRISHELDSASSEVN"
     sig_peptide     102..149
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     150..1043
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /product="osteopontin isoform OPN-a"
     misc_feature    171..173
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    177..179
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    180..182
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    222..971
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="propagated from UniProtKB/Swiss-Prot (P10451.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    285..287
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    288..290
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    297..299
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    327..329
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    333..335
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P31096; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    342..344
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0007744|PubMed:16807684; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    396..398
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    405..407
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    414..416
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    423..425
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    450..452
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    459..461
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    468..470
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    477..479
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    486..488
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    501..503
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); glycosylation site"
     misc_feature    513..515
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); glycosylation site"
     misc_feature    528..530
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); glycosylation site"
     misc_feature    540..542
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); glycosylation site"
     misc_feature    555..557
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); glycosylation site"
     misc_feature    576..584
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="propagated from UniProtKB/Swiss-Prot (P10451.1);
                     Region: Cell attachment site"
     misc_feature    654..656
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:15869464; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    669..671
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphothreonine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    672..674
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    684..686
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    744..746
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    756..758
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P10451.1);
                     phosphorylation site"
     misc_feature    771..773
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P10451.1);
                     phosphorylation site"
     misc_feature    774..776
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    783..785
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    801..803
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="O-linked (Xyl...) (chondroitin sulfate) serine.
                     /evidence=ECO:0000269|PubMed:25326458; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); glycosylation site"
     misc_feature    801..803
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P10451.1);
                     phosphorylation site"
     misc_feature    810..812
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphothreonine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    816..818
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    828..830
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    861..863
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P10451.1);
                     phosphorylation site"
     misc_feature    873..875
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    888..890
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    900..902
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    909..911
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    924..926
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    939..941
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    972..974
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    1008..1010
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    1023..1025
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="O-linked (Xyl...) (chondroitin sulfate) serine.
                     /evidence=ECO:0000269|PubMed:25326458,
                     ECO:0000269|PubMed:36213313; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); glycosylation site"
     misc_feature    1023..1025
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    1029..1031
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:15869464,
                     ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     misc_feature    1032..1034
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P10451.1); phosphorylation site"
     regulatory      1454..1459
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="hexamer: AATAAA"
     polyA_site      1484
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="major polyA site"
     regulatory      1534..1539
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
                     /note="hexamer: AATAAA"
     polyA_site      1561
                     /gene="SPP1"
                     /gene_synonym="BNSP; BSPI; ETA-1; OPN"
ORIGIN
        1 agcagcagga ggaggcagag cacagcatcg tcgggaccag actcgtctca ggccagttgc
       61 agccttctca gccaaacgcc gaccaaggaa aactcactac catgagaatt gcagtgattt
      121 gcttttgcct cctaggcatc acctgtgcca taccagttaa acaggctgat tctggaagtt
      181 ctgaggaaaa gcagctttac aacaaatacc cagatgctgt ggccacatgg ctaaaccctg
      241 acccatctca gaagcagaat ctcctagccc cacagaatgc tgtgtcctct gaagaaacca
      301 atgactttaa acaagagacc cttccaagta agtccaacga aagccatgac cacatggatg
      361 atatggatga tgaagatgat gatgaccatg tggacagcca ggactccatt gactcgaacg
      421 actctgatga tgtagatgac actgatgatt ctcaccagtc tgatgagtct caccattctg
      481 atgaatctga tgaactggtc actgattttc ccacggacct gccagcaacc gaagttttca
      541 ctccagttgt ccccacagta gacacatatg atggccgagg tgatagtgtg gtttatggac
      601 tgaggtcaaa atctaagaag tttcgcagac ctgacatcca gtaccctgat gctacagacg
      661 aggacatcac ctcacacatg gaaagcgagg agttgaatgg tgcatacaag gccatccccg
      721 ttgcccagga cctgaacgcg ccttctgatt gggacagccg tgggaaggac agttatgaaa
      781 cgagtcagct ggatgaccag agtgctgaaa cccacagcca caagcagtcc agattatata
      841 agcggaaagc caatgatgag agcaatgagc attccgatgt gattgatagt caggaacttt
      901 ccaaagtcag ccgtgaattc cacagccatg aatttcacag ccatgaagat atgctggttg
      961 tagaccccaa aagtaaggaa gaagataaac acctgaaatt tcgtatttct catgaattag
     1021 atagtgcatc ttctgaggtc aattaaaagg agaaaaaata caatttctca ctttgcattt
     1081 agtcaaaaga aaaaatgctt tatagcaaaa tgaaagagaa catgaaatgc ttctttctca
     1141 gtttattggt tgaatgtgta tctatttgag tctggaaata actaatgtgt ttgataatta
     1201 gtttagtttg tggcttcatg gaaactccct gtaaactaaa agcttcaggg ttatgtctat
     1261 gttcattcta tagaagaaat gcaaactatc actgtatttt aatatttgtt attctctcat
     1321 gaatagaaat ttatgtagaa gcaaacaaaa tacttttacc cacttaaaaa gagaatataa
     1381 cattttatgt cactataatc ttttgttttt taagttagtg tatattttgt tgtgattatc
     1441 tttttgtggt gtgaataaat cttttatctt gaatgtaata agaatttggt ggtgtcaatt
     1501 gcttatttgt tttcccacgg ttgtccagca attaataaaa cataaccttt tttactgcct
     1561 a
//
LOCUS       NM_001040061            4094 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens FOXL2 neighbor (FOXL2NB), mRNA.
ACCESSION   NM_001040061
VERSION     NM_001040061.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4094)
  AUTHORS   Han Y, Wu J, Yang W, Wang D, Zhang T and Cheng M.
  TITLE     New STAT3-FOXL2 pathway and its function in cancer cells
  JOURNAL   BMC Mol Cell Biol 20 (1), 17 (2019)
   PUBMED   31221094
  REMARK    GeneRIF: This study presents a new upstream regulator of FOXL2 and
            demonstrats that this new STAT3-FOXL2 pathway has an important
            function in HeLaHeLa cell apoptosis, providing new insights
            regarding the targeting of FOXL2 for cancer prevention and
            treatment. Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK125319.1, DA723950.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145245,
            SAMEA2155974 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000383165.4/ ENSP00000372651.3
            RefSeq Select criteria      :: based on computational evidence
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092947.12, AK125319.1 and AC130416.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 24, 2018 this sequence version replaced NM_001040061.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4094
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.3"
     gene            1..4094
                     /gene="FOXL2NB"
                     /gene_synonym="C3orf72"
                     /note="FOXL2 neighbor"
                     /db_xref="GeneID:401089"
                     /db_xref="HGNC:HGNC:34428"
     misc_feature    26..28
                     /gene="FOXL2NB"
                     /gene_synonym="C3orf72"
                     /note="upstream in-frame stop codon"
     CDS             149..676
                     /gene="FOXL2NB"
                     /gene_synonym="C3orf72"
                     /note="FLJ43329 protein"
                     /codon_start=1
                     /product="FOXL2 neighbor protein"
                     /protein_id="NP_001035150.1"
                     /db_xref="CCDS:CCDS43155.1"
                     /db_xref="GeneID:401089"
                     /db_xref="HGNC:HGNC:34428"
                     /translation="MTRTPVGSARTRPKPRKLGPQRGKALQASSRLSESPALVKKRMPD
                     ACTLGRAGIGLPKMCLHMAVRHSKAQKTGPGILQQRQKPPAPRASGGPALLGKRRGCSE
                     AGSASLEPLSSSRAAAGCLNQVPLSPFLAGPRNTRRLPAPERERIELAATLCLEGWPLR
                     CLASKGKLHCVY"
     misc_feature    149..265
                     /gene="FOXL2NB"
                     /gene_synonym="C3orf72"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZUU3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    356..448
                     /gene="FOXL2NB"
                     /gene_synonym="C3orf72"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZUU3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4068..4073
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOXL2NB"
                     /gene_synonym="C3orf72"
                     /note="hexamer: AATAAA"
     polyA_site      4094
                     /gene="FOXL2NB"
                     /gene_synonym="C3orf72"
                     /note="major polyA site"
ORIGIN
        1 gagttcatct ccaagtcact ttttgtaaac gccccgcaca gcctggaccg gcctgccccc
       61 gcccagcgag cctcaggggc ccagccgaca gccaggctca cgcgcccttg aaatctgccg
      121 gtactcgctc tgcgggctgg gctgggagat gacgaggacc ccggtggggt ctgcccgcac
      181 ccggccaaag cccaggaagc tcgggcccca gcgaggaaag gcgctccaag cctcctcgcg
      241 gctttcagaa tccccagccc tggtgaagaa gaggatgcct gatgcgtgca ccctgggaag
      301 ggctggaatc ggtctcccca agatgtgcct tcacatggct gtccggcatt cgaaggctca
      361 gaaaacaggg ccgggaatcc tgcaacagcg gcagaagccg cccgcgcctc gggcttccgg
      421 cggcccagct ctactaggga agcgtcgcgg ctgctctgag gcaggcagcg cttcgctaga
      481 accactcagc tcgtcccgcg ccgccgccgg ctgcctgaac caggttccgc tgtccccttt
      541 cctagcggga ccccgaaaca cccggcggct tcccgctcct gagcgggaga gaatagagct
      601 tgctgcaacc ctctgcttgg agggatggcc tctgcggtgc ttggctagca aagggaagct
      661 tcactgtgtc tattagtaca tccccataca ctccacgcct caacaactgt cagcactcac
      721 tccctcccgg cccctcacag ggccctttgc acccacacct cagggactcg gtgtccctcc
      781 actcaggtca cgttactcca tccacttctc tctccttctc cctctgtcaa ctccaaatcc
      841 cctctagttc tccctcccct cctacttctc tcacactcac cagctacacg tactaattca
      901 gattttgcac atgttggtgg aaaacatgtc aagccaatgt gcagacccta aggcttttca
      961 cacgctgctc actttcgcat ctcacggtgc agaaggacca atgggctcca ggtttacaag
     1021 cctgactccg agaagcctgt tgattctctg atgtccttgg cctgtgattc gggtgactgg
     1081 gctgccacct gggtgttttc atgatgggac tgccgcacag accacagaga agctcaggta
     1141 ctgagcacgt tccagataca ctttaacatg cacaggccac tcacacaggc tttatctctg
     1201 tctcgaaact ctgctgagtt tgctgctcag accaacaagg tgcagcagca gacacccaca
     1261 tagcaccagg tctgaagcca gtgggtatta gtctgcctgg ttgggattag caaagtcagt
     1321 tactcacata tgtgcttggg agagaatagg ggagtggaga gagagagaga gatattgagg
     1381 aagaggaaag agaagcgacc tcctactctg ggaagaactc acacatgaga gctgtttcct
     1441 gttgttaagt gtctcactga gctcccctct ttctccccca ggaagggctt gagaggcagt
     1501 agaccagagc tctgggctcc tctttacctt gctgatgttg gggtatgagt cctccaacac
     1561 cattttgtcc caaggagtat gtgccccatc gtcaatcagg cagaatgcag ggcagttgtc
     1621 ggcctttttc atggtggagg ccaactggga aaaaggcaga agggtctggg tcctgggcca
     1681 agtgaggccc tcttccctcc aaagacccgt gggatgctct cagaggcgga ttctagggtg
     1741 gtgggagctg ctgacaagtt tcctctgata tccctcatga catctatggc ccaaagccat
     1801 tttgttcagc tctgaacagt gagtgccttg ccagtaggcc tcaggcttgc tggggaacat
     1861 gatgtgttct taaaagttgc cttgttgcct ttctccacac ccagactgta agcgctgatg
     1921 ggcagagact ctgccctcca cttctcactc agtgctcccc accaggatgg gcttaatgcc
     1981 ttttaataga attagaaaat ggttctgctg gacagaattg ggaaatgcca ctttccttat
     2041 aatgaagtta taatgaagtt agaatttcca agaaagggac tgtagctgag gaaaagcggt
     2101 ttgatcattg acagccagct caggatctga gagttctttg ccatttgggg ttattatagc
     2161 tgcatggcca tggtgctgaa ccttaggcaa gggcaaggac acctccctag ttcccagtca
     2221 tggtgaggac ctgtctgaaa cattcaaact agactttact ggaaacagag aagtctctgc
     2281 attcagggca gctggcttgc aaggtaaggc ctgcagtctc cacccgcacg ctaacccatg
     2341 aggggatgcc agagagagcc cttccccctt ggtcctcatt cctggctcaa ttttctccca
     2401 caaagcgggc actttctaaa gatgataggc aactgccatg gaggaaggca gttttagatg
     2461 cctagctggc acaaagtcca gaggaaggga gggagaaggg ctgagttttg tattactgtt
     2521 ctacctttgg agattttcct catgccaaga tagggtgtgt gtgtgtgtgt gtgtgtatgt
     2581 gtgtgtgtat gtgtgcacta taactttatg aaacactttt tttttttttg agacagggtc
     2641 tcactctgtt gcccaagctg gagtgcagtg gtgcaatctt ggcttaccgc agtctccacc
     2701 tcccaggctc aagtgatcct cccatctcag cctcagcctc ccaagtagct gggactatgg
     2761 gtgtgagcca acacactcag ctaatttttt tttttttttt ttggtatttt tggtagagac
     2821 agggttttac catgtgggcc caactggtct tgagctcctg agctcagggt gatttgcctg
     2881 cttcaacttc ccaaagtgtt gggattacag gtgtgagcca ccatgcccag tcagtttttt
     2941 attttttatt taaacagttt tgggggaaca ggtggttttt gcttacatgg ataagttctt
     3001 taatggtaat ttctgagatt ttggtgcact tgtcacccga gcattgtaca cggtacccag
     3061 tgtgtaatct tttatccctc atccccctcc tacgcttccc cccccgagtc cccattatat
     3121 aattcttttt ttcttctttt tgagacagag tctcactctg ttgcccaggc tggagtgcag
     3181 tggcatgaac ttggcttact gcagcctcct gagttcaagt gattctcctg cctgaacctc
     3241 ctgtgtagct gggactacag gcatgcacca ccatgcccag ctaatttttg tattttttgt
     3301 agagatgggg tttcaccatg ttggccaggc tagtcttgaa ctcctaacct caagtgatct
     3361 gcctattttg gcctcccaaa gtgttgggat tacaggcgtg cgccactgcg cctggtccat
     3421 tatgtcattc ttatgccttt gcatcttcat agcttagctc ccacttataa atgaaaacac
     3481 aggatatttg gttttccata cttgagttac ttcacttagt ataatggtct ccagctccat
     3541 ccaggttgct gtgaatgcca ttattttgtt cctttttatg gctgagtagt attccatggt
     3601 gtatatatat cacattttct ttatccactc attggttgat gggcatttag ccttgttcca
     3661 tatttttgta tgcagtataa cttacagatg gtaaacaata tacagcttga tgtattctga
     3721 catgtaatgc agtatgtaac caccacctgg atcaagatat ggagcatttc tggcacttca
     3781 gaaggttcct tcatatcttt ttccaatcaa tattgcctca aaagggaaac catatttgga
     3841 tttctatcac cataaataac ctttgcctgc cttgagcctc gtataaatgg agcatatagc
     3901 atgtatgcct ttatgtctag ttttttctgt gcaacatatt tttaatattc actggtcttg
     3961 ttgcatgtgt cagacattta tttcttttta ttgctgtgta atattctagt atttgcttat
     4021 ccatccatat gttgagggac atttgtttcc agtttttgga tatcataaat aaagctgctg
     4081 tgcacattgt tgta
//
LOCUS       NM_001040078            1715 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens galectin 9C (LGALS9C), mRNA.
ACCESSION   NM_001040078
VERSION     NM_001040078.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1715)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1715)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1715)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   4  (bases 1 to 1715)
  AUTHORS   Pelletier I, Hashidate T, Urashima T, Nishi N, Nakamura T, Futai M,
            Arata Y, Kasai K-, Hirashima M, Hirabayashi J and Sato S.
  TITLE     Specific recognition of Leishmania major poly-beta-galactosyl
            epitopes by galectin-9: possible implication of galectin-9 in
            interaction between L. major and host cells
  JOURNAL   J Biol Chem 278 (25), 22223-22230 (2003)
   PUBMED   12684513
  REMARK    GeneRIF: Specific recognition of Leishmania major
            poly-beta-galactosyl epitopes by this compound implicates it in
            interactions between L. major and host cells.
REFERENCE   5  (bases 1 to 1715)
  AUTHORS   Park SS, Stankiewicz P, Bi W, Shaw C, Lehoczky J, Dewar K, Birren B
            and Lupski JR.
  TITLE     Structure and evolution of the Smith-Magenis syndrome repeat gene
            clusters, SMS-REPs
  JOURNAL   Genome Res 12 (5), 729-738 (2002)
   PUBMED   11997339
REFERENCE   6  (bases 1 to 1715)
  AUTHORS   Sato M, Nishi N, Shoji H, Seki M, Hashidate T, Hirabayashi J, Kasai
            Ki K, Hata Y, Suzuki S, Hirashima M and Nakamura T.
  TITLE     Functional analysis of the carbohydrate recognition domains and a
            linker peptide of galectin-9 as to eosinophil chemoattractant
            activity
  JOURNAL   Glycobiology 12 (3), 191-197 (2002)
   PUBMED   11971863
  REMARK    GeneRIF: Functional analysis of the carbohydrate recognition domains
            and a linker peptide as to eosinophil chemoattractant activity
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC073889.1, AK315818.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000328114.11/ ENSP00000329932.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA426549.1, BC073889.1 and BM769737.1.
            On May 17, 2019 this sequence version replaced NM_001040078.2.
            Summary: This gene was initially thought to represent a pseudogene
            of galectin 9; however, this transcript has good exon-intron
            structure and encodes a predicted protein of the same size as and
            highly similar to galectin 9. This gene is one of two similar loci
            on chromosome 17p similar to galectin 9 and now thought to be
            protein-encoding. This gene is the more telomeric gene. [provided
            by RefSeq, Jul 2008].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1715
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..1715
                     /gene="LGALS9C"
                     /gene_synonym="Gal-9B; LGALS9B"
                     /note="galectin 9C"
                     /db_xref="GeneID:654346"
                     /db_xref="HGNC:HGNC:33874"
     CDS             67..1137
                     /gene="LGALS9C"
                     /gene_synonym="Gal-9B; LGALS9B"
                     /note="galectin 9 like; lectin, galactoside-binding,
                     soluble, 9 (galectin 9) pseudogene; gal-9C; galectin-9-like
                     protein B; lectin, galactoside-binding, soluble, 9C;
                     Galectin-9B; Galectin-9-like protein A"
                     /codon_start=1
                     /product="galectin-9C"
                     /protein_id="NP_001035167.2"
                     /db_xref="CCDS:CCDS32587.1"
                     /db_xref="GeneID:654346"
                     /db_xref="HGNC:HGNC:33874"
                     /translation="MAFSGCQAPYLSPAVPFSGTIQGGLQDGFQITVNGAVLSCSGTRF
                     AVDFQTGFSGNDIAFHFNPRFEDGGYVVCNTRQKGTWGPEERKMHMPFQKGMPFDLCFL
                     VQSSDFKVMVNGSLFVQYFHRVPFHRVDTISVNGSVQLSYISFQNPRAVPVQPAFSTVP
                     FSQPVCFPPRPRGRRQKPPSVRPANPAPITQTVIHTVQSASGQMFSQTPAIPPMMYPHP
                     AYPMPFITTIPGGLYPSKSIILSGTVLPSAQRFHINLCSGSHIAFHMNPRFDENAVVRN
                     TQINNSWGSEERSLPRKMPFVRGQSFSVWILCEAHCLKVAVDGQHVFEYYHRLRNLPTI
                     NKLEVGGDIQLTHVQT"
     misc_feature    574..636
                     /gene="LGALS9C"
                     /gene_synonym="Gal-9B; LGALS9B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6DKI2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 attccttctg caaaggactg cctggcaggt gtcaaaggca gtggtggcca cagaggcggt
       61 ggagagatgg ccttcagcgg ttgccaggct ccctatctga gcccagccgt ccccttttct
      121 gggactatcc aagggggtct ccaggacgga tttcagatca ctgtcaatgg ggccgttctc
      181 agctgcagtg gaaccaggtt tgctgtggac tttcagacgg gcttcagtgg aaacgacatt
      241 gccttccact tcaaccctcg gtttgaagac ggagggtatg tggtgtgcaa cacgaggcag
      301 aaaggaacat gggggcccga ggagaggaag atgcacatgc ccttccagaa ggggatgccc
      361 tttgacctct gcttcctggt gcagagctca gatttcaagg tgatggtgaa cgggagcctc
      421 ttcgtgcagt acttccaccg cgtgcccttc caccgtgtgg acaccatctc cgtcaatggc
      481 tctgtgcagc tgtcctacat cagcttccag aatccccgcg cagtccccgt tcagcctgcc
      541 ttctccacgg tgccgttctc ccagcctgtc tgtttcccac ccaggcccag ggggcgcaga
      601 caaaaacctc ccagcgtgcg gcctgccaac ccagctccca ttacccagac agtcatccac
      661 acggtgcaga gtgcctctgg acagatgttc tctcagactc ccgccatccc acctatgatg
      721 tacccccacc ctgcctatcc gatgcctttc atcaccacca ttccgggagg gctgtaccca
      781 tccaagtcca tcatcctgtc aggcactgtc ctgcccagtg ctcagaggtt ccacatcaac
      841 ctgtgctctg ggagccacat cgccttccac atgaaccccc gttttgatga gaatgctgtg
      901 gtccgtaaca cccagatcaa caactcttgg gggtctgagg agcgaagtct gccccgaaaa
      961 atgcccttcg tccgaggcca gagcttctcg gtgtggatct tgtgtgaagc tcactgcctc
     1021 aaggtggccg tggatggtca gcacgtgttt gaatactacc atcgcctgag gaacctgccc
     1081 accatcaaca aactggaagt gggtggcgac atccagctga cccacgtgca gacataggcg
     1141 gctccctggc cctggggccg ggggctgggg tgtggggcag tctgggtcct ctcatcatcc
     1201 ccacttccca ggcccagcct ttccaaccgt gcctgggatc tgggctttaa tgcagaggcc
     1261 atgtccttat ctggtcctgc ttctggctac agccaccctg gaatcgagaa ggcagctgac
     1321 tgggattgcc ttcctcagcc gcagcagcac ctggggcgcc agctgctgga atcctacaat
     1381 cccagaaggc gggcacagcc agggagaggg gaggagtggg cagtgaagat gaagccccat
     1441 gctcagtccc ctcccatccc ccacgcagct ccaccccagt ctcaagccac cagctgtctg
     1501 ctcctggtgg gagatggcct cctcagcccc tcctctctga cctttaacct cactctcacc
     1561 ttgcaccctg caccaaccct tcacccctcc tggaaagcag gcctgatggc ttcccactgg
     1621 cctccaccaa ctgaccagag tgttctcttc aggggactgg ctcctttccc agtgtcctta
     1681 aaataaagaa atgaaaatgc ttgttggcac attca
//
LOCUS       NM_001040084            2020 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens annexin A8 (ANXA8), transcript variant 2, mRNA.
ACCESSION   NM_001040084
VERSION     NM_001040084.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2020)
  AUTHORS   Wang LH, Cao B, Li YL and Qiao BP.
  TITLE     Potential prognostic and therapeutic value of ANXA8 in renal cell
            carcinoma: based on the comprehensive analysis of annexins family
  JOURNAL   BMC Cancer 23 (1), 674 (2023)
   PUBMED   37464398
  REMARK    GeneRIF: Potential prognostic and therapeutic value of ANXA8 in
            renal cell carcinoma: based on the comprehensive analysis of
            annexins family. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2020)
  AUTHORS   Zhou GZ, Sun YH, Shi YY, Zhang Q, Zhang L, Cui LQ and Sun GC.
  TITLE     [ANXA8 Regulates Proliferation of Human Non-Small Lung Cancer Cells
            A549 via EGFR-AKT-mTOR Signaling Pathway]
  JOURNAL   Mol Biol (Mosk) 55 (5), 870-880 (2021)
   PUBMED   34671007
  REMARK    GeneRIF: [ANXA8 Regulates Proliferation of Human Non-Small Lung
            Cancer Cells A549 via EGFR-AKT-mTOR Signaling Pathway].
REFERENCE   3  (bases 1 to 2020)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2020)
  AUTHORS   Gou R, Zhu L, Zheng M, Guo Q, Hu Y, Li X, Liu J and Lin B.
  TITLE     Annexin A8 can serve as potential prognostic biomarker and
            therapeutic target for ovarian cancer: based on the comprehensive
            analysis of Annexins
  JOURNAL   J Transl Med 17 (1), 275 (2019)
   PUBMED   31474227
  REMARK    GeneRIF: ANXA8 was significantly highly expressed in ovarian cancer,
            and high ANXA8 expression was significantly correlated with poor
            prognosis. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2020)
  AUTHORS   Heitzig N, Kuhnl A, Grill D, Ludewig K, Schloer S, Galla HJ, Grewal
            T, Gerke V and Rescher U.
  TITLE     Cooperative binding promotes demand-driven recruitment of AnxA8 to
            cholesterol-containing membranes
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1863 (4), 349-358 (2018)
   PUBMED   29306076
  REMARK    GeneRIF: These findings identify Anxa8 as a regulator of late
            endosomes/lysosomes cholesterol balance.
REFERENCE   6  (bases 1 to 2020)
  AUTHORS   Gerke V and Moss SE.
  TITLE     Annexins: from structure to function
  JOURNAL   Physiol Rev 82 (2), 331-371 (2002)
   PUBMED   11917092
  REMARK    Review article
REFERENCE   7  (bases 1 to 2020)
  AUTHORS   Gress TM, Muller-Pillasch F, Geng M, Zimmerhackl F, Zehetner G,
            Friess H, Buchler M, Adler G and Lehrach H.
  TITLE     A pancreatic cancer-specific expression profile
  JOURNAL   Oncogene 13 (8), 1819-1830 (1996)
   PUBMED   8895530
REFERENCE   8  (bases 1 to 2020)
  AUTHORS   Chambers JA, Gardner E, Hauptmann R, Ponder BA and Mulligan LM.
  TITLE     TaqI polymorphisms at the annexin VIII locus (ANX8)
  JOURNAL   Hum Mol Genet 1 (7), 550 (1992)
   PUBMED   1364010
REFERENCE   9  (bases 1 to 2020)
  AUTHORS   Chang KS, Wang G, Freireich EJ, Daly M, Naylor SL, Trujillo JM and
            Stass SA.
  TITLE     Specific expression of the annexin VIII gene in acute promyelocytic
            leukemia
  JOURNAL   Blood 79 (7), 1802-1810 (1992)
   PUBMED   1313714
REFERENCE   10  (bases 1 to 2020)
  AUTHORS   Hauptmann R, Maurer-Fogy I, Krystek E, Bodo G, Andree H and
            Reutelingsperger CP.
  TITLE     Vascular anticoagulant beta: a novel human Ca2+/phospholipid binding
            protein that inhibits coagulation and phospholipase A2 activity. Its
            molecular cloning, expression and comparison with VAC-alpha
  JOURNAL   Eur J Biochem 185 (1), 63-71 (1989)
   PUBMED   2530088
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC073755.1, M81844.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000585281.6/ ENSP00000462880.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC339657.1, BC004376.1 and
            DR980366.1.
            On Jun 3, 2019 this sequence version replaced NM_001040084.2.
            Summary: This gene encodes a member of the annexin family of
            evolutionarily conserved Ca2+ and phospholipid binding proteins.
            The encoded protein may function as an an anticoagulant that
            indirectly inhibits the thromboplastin-specific complex.
            Overexpression of this gene has been associated with acute
            myelocytic leukemia. A highly similar duplicated copy of this gene
            is found in close proximity on the long arm of chromosome 10.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region compared to variant 1. It
            encodes isoform 2, which has a shorter N-terminus compared to
            isoform 1. An in-frame AUG is located 66 codons upstream of the
            annotated translation start site but was not annotated as a start
            site since it is not conserved and is in a weak Kozak sequence
            context.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2020
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     gene            1..2020
                     /gene="ANXA8"
                     /gene_synonym="ANX8; CH17-360D5.2"
                     /note="annexin A8"
                     /db_xref="GeneID:653145"
                     /db_xref="HGNC:HGNC:546"
                     /db_xref="MIM:602396"
     CDS             183..1166
                     /gene="ANXA8"
                     /gene_synonym="ANX8; CH17-360D5.2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     VAC-beta; annexin-8; annexin VIII; vascular
                     anticoagulant-beta"
                     /codon_start=1
                     /product="annexin A8 isoform 2"
                     /protein_id="NP_001035173.1"
                     /db_xref="CCDS:CCDS73122.1"
                     /db_xref="GeneID:653145"
                     /db_xref="HGNC:HGNC:546"
                     /db_xref="MIM:602396"
                     /translation="MAWWKSWIEQEGVTVKSSSHFNPDPDAETLYKAMKGIGTNEQAII
                     DVLTKRSNTQRQQIAKSFKAQFGKDLTETLKSELSGKFERLIVALMYPPYRYEAKELHD
                     AMKGLGTKEGVIIEILASRTKNQLREIMKAYEEDYGSSLEEDIQADTSGYLERILVCLL
                     QGSRDDVSSFVDPGLALQDAQDLYAAGEKIRGTDEMKFITILCTRSATHLLRVFEEYEK
                     IANKSIEDSIKSETHGSLEEAMLTVVKCTQNLHSYFAERLYYAMKGAGTRDGTLIRNIV
                     SRSEIDLNLIKCHFKKMYGKTLSSMIMEDTSGDYKNALLSLVGSDP"
     misc_feature    243..458
                     /gene="ANXA8"
                     /gene_synonym="ANX8; CH17-360D5.2"
                     /note="propagated from UniProtKB/Swiss-Prot (P13928.3);
                     Region: Annexin 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01245"
     misc_feature    459..674
                     /gene="ANXA8"
                     /gene_synonym="ANX8; CH17-360D5.2"
                     /note="propagated from UniProtKB/Swiss-Prot (P13928.3);
                     Region: Annexin 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01245"
     misc_feature    711..929
                     /gene="ANXA8"
                     /gene_synonym="ANX8; CH17-360D5.2"
                     /note="propagated from UniProtKB/Swiss-Prot (P13928.3);
                     Region: Annexin 3.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01245"
     misc_feature    939..1154
                     /gene="ANXA8"
                     /gene_synonym="ANX8; CH17-360D5.2"
                     /note="propagated from UniProtKB/Swiss-Prot (P13928.3);
                     Region: Annexin 4.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01245"
     regulatory      1781..1786
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANXA8"
                     /gene_synonym="ANX8; CH17-360D5.2"
                     /note="hexamer: AATAAA"
     polyA_site      1805
                     /gene="ANXA8"
                     /gene_synonym="ANX8; CH17-360D5.2"
                     /note="major polyA site"
     regulatory      1996..2001
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANXA8"
                     /gene_synonym="ANX8; CH17-360D5.2"
                     /note="hexamer: AATAAA"
     polyA_site      2020
                     /gene="ANXA8"
                     /gene_synonym="ANX8; CH17-360D5.2"
                     /note="major polyA site"
ORIGIN
        1 agagcccggg ggcgagggga cggcaggcag gtgtggcgct gccctgggcg ggcttgcacc
       61 cccacaccca agtgagcggc ctgctcactc ctcagctgca ggagccagac gtgtggagtc
      121 ccagcagagg ccaacctgtg tctcttcatc tccctgggaa aggtgccccc gaggtgaaag
      181 agatggcctg gtggaaatcc tggattgaac aggagggtgt cacagtgaag agcagctccc
      241 acttcaaccc agaccctgat gcagagaccc tctacaaagc catgaagggg atcgggacca
      301 acgagcaggc tatcatcgat gtgctcacca agagaagcaa cacgcagcgg cagcagatcg
      361 ccaagtcctt caaggctcag ttcggcaagg acctcactga gaccttgaag tctgagctca
      421 gtggcaagtt tgagaggctc attgtggccc ttatgtaccc gccatacaga tacgaagcca
      481 aggagctgca tgacgccatg aagggcttag gaaccaagga gggtgtcatc attgagatcc
      541 tggcctctcg gaccaagaac cagctgcggg agataatgaa ggcgtatgag gaagactatg
      601 ggtccagcct ggaggaggac atccaagcag acacaagtgg ctacctggag aggatcctgg
      661 tgtgcctcct gcagggcagc agggatgatg tgagcagctt tgtggaccca ggactggccc
      721 tccaagacgc acaggatctg tatgcggcag gcgagaagat tcgtgggact gatgagatga
      781 aattcatcac catcctgtgc acgcgcagtg ccactcacct gctgagagtg tttgaagagt
      841 atgagaaaat tgccaacaag agcattgagg acagcatcaa gagtgagacc catggctcac
      901 tggaggaggc catgctcact gtggtgaaat gcacccaaaa cctccacagc tactttgcag
      961 agagactcta ctatgccatg aagggagcag ggacgcgtga tgggaccctg ataagaaaca
     1021 tcgtttcaag gagcgagatt gacttaaatc ttatcaaatg tcacttcaag aagatgtacg
     1081 gcaagaccct cagcagcatg atcatggaag acaccagcgg tgactacaag aacgccctgc
     1141 tgagcctggt gggcagcgac ccctgaggca cagaagaaca agagcaaaga ccatgaagcc
     1201 agagtctcca ggactcctca ctcaacctcg gccatggacg caggttgggt gtgagggggg
     1261 tcccagcctt tcggtcttct atttccctat ttccagtgct ttccagccgg gtttctgacc
     1321 cagagggtgg aaccggcctg gactcctctt cccaacttcc tccaggtcat ttcccagtgt
     1381 gagcacaatg ccaaccttag tgtttctcca gccagacaga tgcctcagca tgaagggctt
     1441 ggggacttgt ggatcattcc ttcctccctg caggagcttc ccaagctggt cacagagtct
     1501 cctgggcaca ggttatacag accccagccc cattcccatc tactgaaaca gggtctccac
     1561 aagaggggcc agggaatatg ggtttttaac aagcgtctta caaaacactt ctctatcatg
     1621 cagccggaga gctggctggg agcccttttg ttttagaaca cacatccttc agcagctgag
     1681 aaacgaacac gaatccatcc caaccgagat gccattaaca ttcatctaaa aatgttaggc
     1741 tctaaatgga cgaaaaattc tctcgccatc ttaataacaa aataaactac aaattcctga
     1801 cccaaggaca ctgtgttata agaggcgtgg gctcccctgg tggctgacca ggtcagctgc
     1861 cctggccttg cacccctctg catgcagcac agaagggtgt gaccatgccc tcagcaccac
     1921 tcttgtcccc actgaacggc aactgagact gggtacctgg agattctgaa gtgcctttgc
     1981 tgtggttttc aaaataataa agatttgtat tcaactcaaa
//
LOCUS       NM_001040092            3086 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2
            (ENPP2), transcript variant 2, mRNA.
ACCESSION   NM_001040092
VERSION     NM_001040092.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3086)
  AUTHORS   Lin KH, Lee SC, Dacheux MA, Norman DD, Balogh A, Bavaria M, Lee H
            and Tigyi G.
  TITLE     E2F7 drives autotaxin/Enpp2 transcription via chromosome looping:
            Repression by p53 in murine but not in human carcinomas
  JOURNAL   FASEB J 37 (7), e23058 (2023)
   PUBMED   37358838
  REMARK    GeneRIF: E2F7 drives autotaxin/Enpp2 transcription via chromosome
            looping: Repression by p53 in murine but not in human carcinomas.
REFERENCE   2  (bases 1 to 3086)
  AUTHORS   Magkrioti C, Kaffe E and Aidinis V.
  TITLE     The Role of Autotaxin and LPA Signaling in Embryonic Development,
            Pathophysiology and Cancer
  JOURNAL   Int J Mol Sci 24 (9), 8325 (2023)
   PUBMED   37176032
  REMARK    GeneRIF: The Role of Autotaxin and LPA Signaling in Embryonic
            Development, Pathophysiology and Cancer. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 3086)
  AUTHORS   Qu M, Long Y, Wang Y, Yin N, Zhang X and Zhang J.
  TITLE     Hypoxia Increases ATX Expression by Histone Crotonylation in a
            HIF-2alpha-Dependent Manner
  JOURNAL   Int J Mol Sci 24 (8), 7031 (2023)
   PUBMED   37108194
  REMARK    GeneRIF: Hypoxia Increases ATX Expression by Histone Crotonylation
            in a HIF-2alpha-Dependent Manner. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3086)
  AUTHORS   Rossi M, Hamed M, Rodriguez-Antiguedad J, Cornejo-Olivas M, Breza M,
            Lohmann K, Klein C, Rajalingam R, Marras C and van de Warrenburg BP.
  TITLE     Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene
            Systematic Review
  JOURNAL   Mov Disord 38 (3), 368-377 (2023)
   PUBMED   36374860
  REMARK    GeneRIF: Genotype-Phenotype Correlations for ATX-TBP (SCA17):
            MDSGene Systematic Review. Review article
REFERENCE   5  (bases 1 to 3086)
  AUTHORS   Inoue K, Tanaka N, Haga A, Yamasaki K, Umeda T, Kusakabe Y, Sakamoto
            Y, Nonaka T, Deyashiki Y and Nakamura KT.
  TITLE     Crystallization and preliminary X-ray crystallographic analysis of
            human autotaxin
  JOURNAL   Acta Crystallogr Sect F Struct Biol Cryst Commun 67 (Pt 4), 450-453
            (2011)
   PUBMED   21505238
  REMARK    GeneRIF: X-ray diffraction of autotaxin data were collected to 3.0 A
            resolution from a monoclinic crystal form belonging to space group
            C2, with unit-cell parameters a = 311.4, b = 147.9, c = 176.9 A,
            beta = 122.6 degrees
REFERENCE   6  (bases 1 to 3086)
  AUTHORS   Jansen S, Stefan C, Creemers JW, Waelkens E, Van Eynde A, Stalmans W
            and Bollen M.
  TITLE     Proteolytic maturation and activation of autotaxin (NPP2), a
            secreted metastasis-enhancing lysophospholipase D
  JOURNAL   J Cell Sci 118 (Pt 14), 3081-3089 (2005)
   PUBMED   15985467
REFERENCE   7  (bases 1 to 3086)
  AUTHORS   Lee HY, Murata J, Clair T, Polymeropoulos MH, Torres R, Manrow RE,
            Liotta LA and Stracke ML.
  TITLE     Cloning, chromosomal localization, and tissue expression of
            autotaxin from human teratocarcinoma cells
  JOURNAL   Biochem Biophys Res Commun 218 (3), 714-719 (1996)
   PUBMED   8579579
REFERENCE   8  (bases 1 to 3086)
  AUTHORS   Stracke ML, Arestad A, Levine M, Krutzsch HC and Liotta LA.
  TITLE     Autotaxin is an N-linked glycoprotein but the sugar moieties are not
            needed for its stimulation of cellular motility
  JOURNAL   Melanoma Res 5 (4), 203-209 (1995)
   PUBMED   7496154
REFERENCE   9  (bases 1 to 3086)
  AUTHORS   Murata J, Lee HY, Clair T, Krutzsch HC, Arestad AA, Sobel ME, Liotta
            LA and Stracke ML.
  TITLE     cDNA cloning of the human tumor motility-stimulating protein,
            autotaxin, reveals a homology with phosphodiesterases
  JOURNAL   J Biol Chem 269 (48), 30479-30484 (1994)
   PUBMED   7982964
REFERENCE   10  (bases 1 to 3086)
  AUTHORS   Stracke ML, Krutzsch HC, Unsworth EJ, Arestad A, Cioce V, Schiffmann
            E and Liotta LA.
  TITLE     Identification, purification, and partial sequence analysis of
            autotaxin, a novel motility-stimulating protein
  JOURNAL   J Biol Chem 267 (4), 2524-2529 (1992)
   PUBMED   1733949
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC034961.2, SRR1803611.16553.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000075322.11/ ENSP00000075322.6
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315253.1, DA922156.1 and
            AI375195.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001040092.2.
            Summary: The protein encoded by this gene functions as both a
            phosphodiesterase, which cleaves phosphodiester bonds at the 5' end
            of oligonucleotides, and a phospholipase, which catalyzes
            production of lysophosphatidic acid (LPA) in extracellular fluids.
            LPA evokes growth factor-like responses including stimulation of
            cell proliferation and chemotaxis. This gene product stimulates the
            motility of tumor cells and has angiogenic properties, and its
            expression is upregulated in several kinds of carcinomas. The gene
            product is secreted and further processed to make the biologically
            active form. Several alternatively spliced transcript variants
            encoding different isoforms have been identified. [provided by
            RefSeq, Aug 2008].
            Transcript Variant: This variant (2) lacks an exon in the coding
            region, but maintains the reading frame, compared to variant 1. The
            encoded isoform (2, also known as beta) is shorter than isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3086
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.12"
     gene            1..3086
                     /gene="ENPP2"
                     /gene_synonym="ATX; ATX-X; AUTOTAXIN; LysoPLD; NPP2;
                     PD-IALPHA; PDNP2"
                     /note="ectonucleotide pyrophosphatase/phosphodiesterase 2"
                     /db_xref="GeneID:5168"
                     /db_xref="HGNC:HGNC:3357"
                     /db_xref="MIM:601060"
     misc_feature    12..14
                     /gene="ENPP2"
                     /gene_synonym="ATX; ATX-X; AUTOTAXIN; LysoPLD; NPP2;
                     PD-IALPHA; PDNP2"
                     /note="upstream in-frame stop codon"
     CDS             60..2651
                     /gene="ENPP2"
                     /gene_synonym="ATX; ATX-X; AUTOTAXIN; LysoPLD; NPP2;
                     PD-IALPHA; PDNP2"
                     /EC_number="3.1.4.39"
                     /note="isoform 2 preproprotein is encoded by transcript
                     variant 2; plasma lysophospholipase D; phosphodiesterase
                     I/nucleotide pyrophosphatase 2; autotaxin-t; ectonucleotide
                     pyrophosphatase/phosphodiesterase family member 2; E-NPP 2;
                     extracellular lysophospholipase D"
                     /codon_start=1
                     /product="ectonucleotide pyrophosphatase/phosphodiesterase
                     family member 2 isoform 2 preproprotein"
                     /protein_id="NP_001035181.1"
                     /db_xref="CCDS:CCDS34936.1"
                     /db_xref="GeneID:5168"
                     /db_xref="HGNC:HGNC:3357"
                     /db_xref="MIM:601060"
                     /translation="MARRSSFQSCQIISLFTFAVGVNICLGFTAHRIKRAEGWEEGPPT
                     VLSDSPWTNISGSCKGRCFELQEAGPPDCRCDNLCKSYTSCCHDFDELCLKTARGWECT
                     KDRCGEVRNEENACHCSEDCLARGDCCTNYQVVCKGESHWVDDDCEEIKAAECPAGFVR
                     PPLIIFSVDGFRASYMKKGSKVMPNIEKLRSCGTHSPYMRPVYPTKTFPNLYTLATGLY
                     PESHGIVGNSMYDPVFDATFHLRGREKFNHRWWGGQPLWITATKQGVKAGTFFWSVVIP
                     HERRILTILQWLTLPDHERPSVYAFYSEQPDFSGHKYGPFGPEMTNPLREIDKIVGQLM
                     DGLKQLKLHRCVNVIFVGDHGMEDVTCDRTEFLSNYLTNVDDITLVPGTLGRIRSKFSN
                     NAKYDPKAIIANLTCKKPDQHFKPYLKQHLPKRLHYANNRRIEDIHLLVERRWHVARKP
                     LDVYKKPSGKCFFQGDHGFDNKVNSMQTVFVGYGSTFKYKTKVPPFENIELYNVMCDLL
                     GLKPAPNNGTHGSLNHLLRTNTFRPTMPEEVTRPNYPGIMYLQSDFDLGCTCDDKVEPK
                     NKLDELNKRLHTKGSTEERHLLYGRPAVLYRTRYDILYHTDFESGYSEIFLMPLWTSYT
                     VSKQAEVSSVPDHLTSCVRPDVRVSPSFSQNCLAYKNDKQMSYGFLFPPYLSSSPEAKY
                     DAFLVTNMVPMYPAFKRVWNYFQRVLVKKYASERNGVNVISGPIFDYDYDGLHDTEDKI
                     KQYVEGSSIPVPTHYYSIITSCLDFTQPADKCDGPLSVSSFILPHRPDNEESCNSSEDE
                     SKWVEELMKMHTARVRDIEHLTSLDFFRKTSRSYPEILTLKTYLHTYESEI"
     sig_peptide     60..140
                     /gene="ENPP2"
                     /gene_synonym="ATX; ATX-X; AUTOTAXIN; LysoPLD; NPP2;
                     PD-IALPHA; PDNP2"
                     /note="/evidence=ECO:0000250|UniProtKB:Q64610; propagated
                     from UniProtKB/Swiss-Prot (Q13822.3)"
     proprotein      141..2648
                     /gene="ENPP2"
                     /gene_synonym="ATX; ATX-X; AUTOTAXIN; LysoPLD; NPP2;
                     PD-IALPHA; PDNP2"
                     /product="ectonucleotide pyrophosphatase/phosphodiesterase
                     family member 2 isoform 2 proprotein"
     mat_peptide     165..2648
                     /gene="ENPP2"
                     /gene_synonym="ATX; ATX-X; AUTOTAXIN; LysoPLD; NPP2;
                     PD-IALPHA; PDNP2"
                     /product="Ectonucleotide pyrophosphatase/phosphodiesterase
                     family member 2. /id=PRO_0000188567"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13822.3)"
     misc_feature    219..221
                     /gene="ENPP2"
                     /gene_synonym="ATX; ATX-X; AUTOTAXIN; LysoPLD; NPP2;
                     PD-IALPHA; PDNP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13822.3); glycosylation site"
     misc_feature    438..446
                     /gene="ENPP2"
                     /gene_synonym="ATX; ATX-X; AUTOTAXIN; LysoPLD; NPP2;
                     PD-IALPHA; PDNP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13822.3);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    1290..1292
                     /gene="ENPP2"
                     /gene_synonym="ATX; ATX-X; AUTOTAXIN; LysoPLD; NPP2;
                     PD-IALPHA; PDNP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13822.3); glycosylation site"
     misc_feature    1632..1634
                     /gene="ENPP2"
                     /gene_synonym="ATX; ATX-X; AUTOTAXIN; LysoPLD; NPP2;
                     PD-IALPHA; PDNP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:26371182,
                     ECO:0007744|PDB:4ZG6, ECO:0007744|PDB:4ZG7,
                     ECO:0007744|PDB:4ZG9, ECO:0007744|PDB:4ZGA; propagated from
                     UniProtKB/Swiss-Prot (Q13822.3); glycosylation site"
     misc_feature    2478..2480
                     /gene="ENPP2"
                     /gene_synonym="ATX; ATX-X; AUTOTAXIN; LysoPLD; NPP2;
                     PD-IALPHA; PDNP2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13822.3); glycosylation site"
     misc_feature    2547..2612
                     /gene="ENPP2"
                     /gene_synonym="ATX; ATX-X; AUTOTAXIN; LysoPLD; NPP2;
                     PD-IALPHA; PDNP2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13822.3);
                     Region: Required for secretion. /evidence=ECO:0000250"
     misc_feature    2616..2618
                     /gene="ENPP2"
                     /gene_synonym="ATX; ATX-X; AUTOTAXIN; LysoPLD; NPP2;
                     PD-IALPHA; PDNP2"
                     /note="Essential for catalytic activity.
                     /evidence=ECO:0000250|UniProtKB:Q9R1E6; propagated from
                     UniProtKB/Swiss-Prot (Q13822.3); other site"
     regulatory      3065..3070
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENPP2"
                     /gene_synonym="ATX; ATX-X; AUTOTAXIN; LysoPLD; NPP2;
                     PD-IALPHA; PDNP2"
                     /note="hexamer: AATAAA"
     polyA_site      3086
                     /gene="ENPP2"
                     /gene_synonym="ATX; ATX-X; AUTOTAXIN; LysoPLD; NPP2;
                     PD-IALPHA; PDNP2"
                     /note="major polyA site"
ORIGIN
        1 agtgcactcc gtgaaggcaa agagaacacg ctgcaaaagg ctttccaaga atcctcgaca
       61 tggcaaggag gagctcgttc cagtcgtgtc agataatatc cctgttcact tttgccgttg
      121 gagtcaatat ctgcttagga ttcactgcac atcgaattaa gagagcagaa ggatgggagg
      181 aaggtcctcc tacagtgcta tcagactccc cctggaccaa catctccgga tcttgcaagg
      241 gcaggtgctt tgaacttcaa gaggctggac ctcctgattg tcgctgtgac aacttgtgta
      301 agagctatac cagttgctgc catgactttg atgagctgtg tttgaagaca gcccgtggct
      361 gggagtgtac taaggacaga tgtggagaag tcagaaatga agaaaatgcc tgtcactgct
      421 cagaggactg cttggccagg ggagactgct gtaccaatta ccaagtggtt tgcaaaggag
      481 agtcgcattg ggttgatgat gactgtgagg aaataaaggc cgcagaatgc cctgcagggt
      541 ttgttcgccc tccattaatc atcttctccg tggatggctt ccgtgcatca tacatgaaga
      601 aaggcagcaa agtcatgcct aatattgaaa aactaaggtc ttgtggcaca cactctccct
      661 acatgaggcc ggtgtaccca actaaaacct ttcctaactt atacactttg gccactgggc
      721 tatatccaga atcacatgga attgttggca attcaatgta tgatcctgta tttgatgcca
      781 cttttcatct gcgagggcga gagaaattta atcatagatg gtggggaggt caaccgctat
      841 ggattacagc caccaagcaa ggggtgaaag ctggaacatt cttttggtct gttgtcatcc
      901 ctcacgagcg gagaatatta accatattgc agtggctcac cctgccagat catgagaggc
      961 cttcggtcta tgccttctat tctgagcaac ctgatttctc tggacacaaa tatggccctt
     1021 tcggccctga gatgacaaat cctctgaggg aaatcgacaa aattgtgggg caattaatgg
     1081 atggactgaa acaactaaaa ctgcatcggt gtgtcaacgt catctttgtc ggagaccatg
     1141 gaatggaaga tgtcacatgt gatagaactg agttcttgag taattaccta actaatgtgg
     1201 atgatattac tttagtgcct ggaactctag gaagaattcg atccaaattt agcaacaatg
     1261 ctaaatatga ccccaaagcc attattgcca atctcacgtg taaaaaacca gatcagcact
     1321 ttaagcctta cttgaaacag caccttccca aacgtttgca ctatgccaac aacagaagaa
     1381 ttgaggatat ccatttattg gtggaacgca gatggcatgt tgcaaggaaa cctttggatg
     1441 tttataagaa accatcagga aaatgctttt tccagggaga ccacggattt gataacaagg
     1501 tcaacagcat gcagactgtt tttgtaggtt atggctcaac atttaagtac aagactaaag
     1561 tgcctccatt tgaaaacatt gaactttaca atgttatgtg tgatctcctg ggattgaagc
     1621 cagctcctaa taatgggacc catggaagtt tgaatcatct cctgcgcact aataccttca
     1681 ggccaaccat gccagaggaa gttaccagac ccaattatcc agggattatg taccttcagt
     1741 ctgattttga cctgggctgc acttgtgatg ataaggtaga gccaaagaac aagttggatg
     1801 aactcaacaa acggcttcat acaaaagggt ctacagaaga gagacacctc ctctatgggc
     1861 gacctgcagt gctttatcgg actagatatg atatcttata tcacactgac tttgaaagtg
     1921 gttatagtga aatattccta atgccactct ggacatcata tactgtttcc aaacaggctg
     1981 aggtttccag cgttcctgac catctgacca gttgcgtccg gcctgatgtc cgtgtttctc
     2041 cgagtttcag tcagaactgt ttggcctaca aaaatgataa gcagatgtcc tacggattcc
     2101 tctttcctcc ttatctgagc tcttcaccag aggctaaata tgatgcattc cttgtaacca
     2161 atatggttcc aatgtatcct gctttcaaac gggtctggaa ttatttccaa agggtattgg
     2221 tgaagaaata tgcttcggaa agaaatggag ttaacgtgat aagtggacca atcttcgact
     2281 atgactatga tggcttacat gacacagaag acaaaataaa acagtacgtg gaaggcagtt
     2341 ccattcctgt tccaactcac tactacagca tcatcaccag ctgtctggat ttcactcagc
     2401 ctgccgacaa gtgtgacggc cctctctctg tgtcctcctt catcctgcct caccggcctg
     2461 acaacgagga gagctgcaat agctcagagg acgaatcaaa atgggtagaa gaactcatga
     2521 agatgcacac agctagggtg cgtgacattg aacatctcac cagcctggac ttcttccgaa
     2581 agaccagccg cagctaccca gaaatcctga cactcaagac atacctgcat acatatgaga
     2641 gcgagattta actttctgag catctgcagt acagtcttat caactggttg tatattttta
     2701 tattgttttt gtatttatta atttgaaacc aggacattaa aaatgttagt attttaatcc
     2761 tgtaccaaat ctgacatatt atgcctgaat gactccactg tttttctcta atgcttgatt
     2821 taggtagcct tgtgttctga gtagagcttg taataaatac tgcagcttga gtttttagtg
     2881 gaagcttcta aatggtgctg cagatttgat atttgcattg aggaaatatt aattttccaa
     2941 tgcacagttg ccacatttag tcctgtactg tatggaaaca ctgattttgt aaagttgcct
     3001 ttatttgctg ttaactgtta actatgacag atatatttaa gccttataaa ccaatcttaa
     3061 acataataaa tcacacattc agtttt
//
LOCUS       NM_001040100            1734 bp    mRNA    linear   PRI 21-MAR-2023
DEFINITION  Homo sapiens serine palmitoyltransferase small subunit B (SPTSSB),
            transcript variant 2, mRNA.
ACCESSION   NM_001040100
VERSION     NM_001040100.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1734)
  AUTHORS   Wang Y, Niu Y, Zhang Z, Gable K, Gupta SD, Somashekarappa N, Han G,
            Zhao H, Myasnikov AG, Kalathur RC, Dunn TM and Lee CH.
  TITLE     Structural insights into the regulation of human serine
            palmitoyltransferase complexes
  JOURNAL   Nat Struct Mol Biol 28 (3), 240-248 (2021)
   PUBMED   33558761
REFERENCE   2  (bases 1 to 1734)
  AUTHORS   Han G, Gupta SD, Gable K, Niranjanakumari S, Moitra P, Eichler F,
            Brown RH Jr, Harmon JM and Dunn TM.
  TITLE     Identification of small subunits of mammalian serine
            palmitoyltransferase that confer distinct acyl-CoA substrate
            specificities
  JOURNAL   Proc Natl Acad Sci U S A 106 (20), 8186-8191 (2009)
   PUBMED   19416851
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2009 Jun 16;106(24):9931]
REFERENCE   3  (bases 1 to 1734)
  AUTHORS   Singh J, Young L, Handelsman DJ and Dong Q.
  TITLE     Molecular cloning and characterization of a novel androgen
            repressible gene expressed in the prostate epithelium
  JOURNAL   Gene 348, 55-63 (2005)
   PUBMED   15777716
  REMARK    GeneRIF: ADMP expression was seen predominantly in the prostate
            epithelium with weaker expression in the fibroblasts and endothelial
            cells.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC037817.2, AK123348.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000620149.2/ ENSP00000480827.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC112491.4.
            On Sep 25, 2020 this sequence version replaced NM_001040100.1.
            Summary: Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes
            the first committed and rate-limiting step in sphingolipid
            biosynthesis. SSSPTB is a small SPT subunit that stimulates SPT
            activity and confers acyl-CoA preference to the SPT catalytic
            heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713)
            or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed
            19416851]).[supplied by OMIM, Nov 2010].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1734
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.1"
     gene            1..1734
                     /gene="SPTSSB"
                     /gene_synonym="ADMP; C3orf57; SSSPTB"
                     /note="serine palmitoyltransferase small subunit B"
                     /db_xref="GeneID:165679"
                     /db_xref="HGNC:HGNC:24045"
                     /db_xref="MIM:610412"
     misc_feature    53..55
                     /gene="SPTSSB"
                     /gene_synonym="ADMP; C3orf57; SSSPTB"
                     /note="upstream in-frame stop codon"
     CDS             209..439
                     /gene="SPTSSB"
                     /gene_synonym="ADMP; C3orf57; SSSPTB"
                     /note="likely ortholog of androgen down regulated gene
                     expressed in mouse prostate; androgen down regulated in
                     mouse prostate; small subunit of serine
                     palmitoyltransferase B"
                     /codon_start=1
                     /product="serine palmitoyltransferase small subunit B"
                     /protein_id="NP_001035189.1"
                     /db_xref="CCDS:CCDS33887.1"
                     /db_xref="GeneID:165679"
                     /db_xref="HGNC:HGNC:24045"
                     /db_xref="MIM:610412"
                     /translation="MDLRRVKEYFSWLYYQYQIISCCAVLEPWERSMFNTILLTIIAMV
                     VYTAYVFIPIHIRLAWEFFSKICGYHSTISN"
     misc_feature    242..295
                     /gene="SPTSSB"
                     /gene_synonym="ADMP; C3orf57; SSSPTB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFR3.1);
                     transmembrane region"
     misc_feature    317..379
                     /gene="SPTSSB"
                     /gene_synonym="ADMP; C3orf57; SSSPTB"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFR3.1);
                     transmembrane region"
     regulatory      1711..1716
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPTSSB"
                     /gene_synonym="ADMP; C3orf57; SSSPTB"
                     /note="hexamer: AATAAA"
     polyA_site      1734
                     /gene="SPTSSB"
                     /gene_synonym="ADMP; C3orf57; SSSPTB"
                     /note="major polyA site"
ORIGIN
        1 gcagtgggaa gctcgcagca gctggggagg agccaaagcc tcggcgctca cctaagccgc
       61 agggagatac acccaactgg gagatgagga aacagcaacc cagagaggag aactaaccca
      121 cacaggatca tttcgtgaag gagcaaggct gaagaaccag acctggactt tcttaggaca
      181 aacttactgc agcttgaagg agccaaccat ggatttgagg cgtgtgaagg aatatttctc
      241 ctggctctac tatcaatacc aaatcattag ctgctgtgct gttttagagc cctgggagcg
      301 atctatgttt aacaccatct tactaaccat tattgctatg gtggtataca ctgcctatgt
      361 ctttattcca atccacattc gcctggcttg ggaatttttc tcaaaaatat gtggatatca
      421 cagtacaatt tctaattgat cctgttcaca ttcagtgaaa tggcattgca tatttatatg
      481 ttgcttacag cttattgatt taggtaacta ttgtgtcttc cttcactatc tgacctgaaa
      541 agcactctct tctctatgca ctcttatatt ctgcctttct gcctggagtt tgaaatacat
      601 gtctctttag tttcttttgc acatgctaca ttgtgcttta gaccggagat aatacagtga
      661 ctttacctca caaatcatat tctgtcaaca caaatctatg aatttagttt atttaaaatc
      721 agaacaattt cctacaaaat ttttctggaa aatagactcc taacagacct accagaatca
      781 tgcttaaagt gctcccttga cacttattct atactaaagg ataaatttta aaaaatcttt
      841 ataggctact gtcagaagta tcctatcctt gtttacgatg tataaaaaga tgtgaataaa
      901 ttatatggac cccctaagtc ttattttcta gtaaactgat gatactggaa attcttttac
      961 ttcaaatgca aaagaataag ctggaggcaa ttatttcctt tcatacagag ttcatgaatt
     1021 gttttaaatg cttcttaaag tctggcttta taaccgttta aaatcaacaa tgttgatttt
     1081 agataaccaa gtaagtatta taatacaaaa taattttaag tgtaagaaac taaagtataa
     1141 tcaaagtaaa ttcagttatt gtatttgtgg tgttgccttg ccttgcatga tgctggggga
     1201 aaaagagaaa agaaatggtt ttctttttgt actttcattc agtgtagagg gaaaaaagca
     1261 tgtattgggc caccggaaga caagctaata aataggctgg aagtaatatt ctaccagcag
     1321 gaactcaaca gctccagtta aatgctttga tatagtggct cctttgcaga gccaaaacaa
     1381 gatttattaa atttccttca aactgtttat ctttaaaaca aatataaggt tttaattata
     1441 ctgctgaagc aaatgtgaat gccaaagact acgttttgca gttttgcttt cctcccaata
     1501 aatattaatg tatgtaattc tagagggtaa aaatgtaaat aggtttggac aatatttgca
     1561 cccttgtttg tgttatgaaa aaaatttttc caaggtgagc tagagagaaa gatgtttggc
     1621 atgccaaatt aacttgcatg tttgttaaaa aaacaaacac atgttttgaa gagaaaccag
     1681 atctgaacat gtatttgttg agttttgcaa aataaaatta attttgtaag taaa
//
LOCUS       NM_001040105           14352 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens mucin 17, cell surface associated (MUC17), transcript
            variant 1, mRNA.
ACCESSION   NM_001040105
VERSION     NM_001040105.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 14352)
  AUTHORS   Machado GC and Ferrer VP.
  TITLE     MUC17 mutations and methylation are associated with poor prognosis
            in adult-type diffuse glioma patients
  JOURNAL   J Neurol Sci 452, 120762 (2023)
   PUBMED   37562166
  REMARK    GeneRIF: MUC17 mutations and methylation are associated with poor
            prognosis in adult-type diffuse glioma patients.
REFERENCE   2  (bases 1 to 14352)
  AUTHORS   Lin S, Ruan H, Qin L, Zhao C, Gu M, Wang Z, Liu B, Wang H and Wang
            J.
  TITLE     Acquired resistance to EGFR-TKIs in NSCLC mediates epigenetic
            downregulation of MUC17 by facilitating NF-kappaB activity via
            UHRF1/DNMT1 complex
  JOURNAL   Int J Biol Sci 19 (3), 832-851 (2023)
   PUBMED   36778111
  REMARK    GeneRIF: Acquired resistance to EGFR-TKIs in NSCLC mediates
            epigenetic downregulation of MUC17 by facilitating NF-kappaB
            activity via UHRF1/DNMT1 complex. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 14352)
  AUTHORS   Schneider H, Berger E, Dolan B, Martinez-Abad B, Arike L, Pelaseyed
            T and Hansson GC.
  TITLE     The human transmembrane mucin MUC17 responds to TNFalpha by
            increased presentation at the plasma membrane
  JOURNAL   Biochem J 476 (16), 2281-2295 (2019)
   PUBMED   31387973
  REMARK    GeneRIF: Overexpression and increased presentation at the plasma
            membrane of wild-type MUC17 and its phosphodeficient variant MUC17
            S-4492A protected Caco-2 cells against adhesion of enteropathogenic
            Escherichia coli, indicating that C-terminal phosphorylation of
            MUC17 may play a functional role in epithelial cell protection.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 14352)
  AUTHORS   Yang B, Wu A, Hu Y, Tao C, Wang JM, Lu Y and Xing R.
  TITLE     Mucin 17 inhibits the progression of human gastric cancer by
            limiting inflammatory responses through a MYH9-p53-RhoA regulatory
            feedback loop
  JOURNAL   J Exp Clin Cancer Res 38 (1), 283 (2019)
   PUBMED   31262330
  REMARK    GeneRIF: MUC17 inactivated NFkappaB to inhibit gastric cancer cell
            proliferation in response to pro-inflammatory cytokines. The MUC17
            function was dependent on its conserved epidermal growth factor
            domain and on downstream sequences to enable its interaction with
            myosin-9, resulting in a regulatory feedback loop between myosin-9,
            p53, and RhoA, and then activation of p38 to negatively regulate the
            NFkappaB pathway in gastric ca... Publication Status: Online-Only
REFERENCE   5  (bases 1 to 14352)
  AUTHORS   Glavey SV, Naba A, Manier S, Clauser K, Tahri S, Park J, Reagan MR,
            Moschetta M, Mishima Y, Gambella M, Rocci A, Sacco A, O'Dwyer ME,
            Asara JM, Palumbo A, Roccaro AM, Hynes RO and Ghobrial IM.
  TITLE     Proteomic characterization of human multiple myeloma bone marrow
            extracellular matrix
  JOURNAL   Leukemia 31 (11), 2426-2434 (2017)
   PUBMED   28344315
REFERENCE   6  (bases 1 to 14352)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   7  (bases 1 to 14352)
  AUTHORS   Ho JJ, Jaituni RS, Crawley SC, Yang SC, Gum JR and Kim YS.
  TITLE     N-glycosylation is required for the surface localization of MUC17
            mucin
  JOURNAL   Int J Oncol 23 (3), 585-592 (2003)
   PUBMED   12888891
  REMARK    GeneRIF: surface localization of the smaller subunit of MUC17 is
            dependent on its N-glycosylation status
REFERENCE   8  (bases 1 to 14352)
  AUTHORS   Wang R, Khatri IA and Forstner JF.
  TITLE     C-terminal domain of rodent intestinal mucin Muc3 is proteolytically
            cleaved in the endoplasmic reticulum to generate extracellular and
            membrane components
  JOURNAL   Biochem J 366 (Pt 2), 623-631 (2002)
   PUBMED   12027806
REFERENCE   9  (bases 1 to 14352)
  AUTHORS   Gum JR Jr, Crawley SC, Hicks JW, Szymkowski DE and Kim YS.
  TITLE     MUC17, a novel membrane-tethered mucin
  JOURNAL   Biochem Biophys Res Commun 291 (3), 466-475 (2002)
   PUBMED   11855812
  REMARK    GeneRIF: sequence homology & chromosome mapping
REFERENCE   10  (bases 1 to 14352)
  AUTHORS   Van Klinken BJ, Van Dijken TC, Oussoren E, Buller HA, Dekker J and
            Einerhand AW.
  TITLE     Molecular cloning of human MUC3 cDNA reveals a novel 59 amino acid
            tandem repeat region
  JOURNAL   Biochem Biophys Res Commun 238 (1), 143-148 (1997)
   PUBMED   9299468
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AJ606307.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000306151.9/ ENSP00000302716.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC105446.4, AJ606307.1,
            BM773519.1, BM768498.1 and BM987743.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001040105.1.
            Summary: The protein encoded by this gene is a membrane-bound mucin
            that provides protection to gut epithelial cells. The encoded
            protein contains about 60 tandem repeats, with each repeat being
            around 60 aa. N-glycosylation enables the encoded protein to
            localize on the cell surface, while the C-terminus interacts with
            the scaffold protein PDZ domain containing 1 (PDZK1). Two
            transcript variants, one protein-coding and the other non-protein
            coding, have been found for this gene. [provided by RefSeq, Nov
            2015].
            Transcript Variant: This variant (1) represents the longer
            transcript and is the protein-coding variant.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..14352
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..14352
                     /gene="MUC17"
                     /gene_synonym="MUC-17; MUC-3; MUC3"
                     /note="mucin 17, cell surface associated"
                     /db_xref="GeneID:140453"
                     /db_xref="HGNC:HGNC:16800"
                     /db_xref="MIM:608424"
     misc_feature    35..37
                     /gene="MUC17"
                     /gene_synonym="MUC-17; MUC-3; MUC3"
                     /note="upstream in-frame stop codon"
     CDS             56..13537
                     /gene="MUC17"
                     /gene_synonym="MUC-17; MUC-3; MUC3"
                     /note="small intestinal mucin MUC3; membrane mucin MUC17;
                     secreted mucin MUC17; small intestinal mucin-3"
                     /codon_start=1
                     /product="mucin-17 precursor"
                     /protein_id="NP_001035194.1"
                     /db_xref="CCDS:CCDS34711.1"
                     /db_xref="GeneID:140453"
                     /db_xref="HGNC:HGNC:16800"
                     /db_xref="MIM:608424"
                     /translation="MPRPGTMALCLLTLVLSLLPPQAAAEQDLSVNRAVWDGGGCISQG
                     DVLNRQCQQLSQHVRTGSAANTATGTTSTNVVEPRMYLSCSTNPEMTSIESSVTSDTPG
                     VSSTRMTPTESRTTSESTSDSTTLFPSSTEDTSSPTTPEGTDVPMSTPSEESISSTMAF
                     VSTAPLPSFEAYTSLTYKVDMSTPLTTSTQASSSPTTPESTTIPKSTNSEGSTPLTSMP
                     ASTMKVASSEAITLLTTPVEISTPVTISAQASSSPTTAEGPSLSNSAPSGGSTPLTRMP
                     LSVMLVVSSEASTLSTTPAATNIPVITSTEASSSPTTAEGTSIPTSTYTEGSTPLTSTP
                     ASTMPVATSEMSTLSITPVDTSTLVTTSTEPSSLPTTAEATSMLTSTLSEGSTPLTNMP
                     VSTILVASSEASTTSTIPVDSKTFVTTASEASSSPTTAEDTSIATSTPSEGSTPLTSMP
                     VSTTPVASSEASNLSTTPVDSKTQVTTSTEASSSPPTAEVNSMPTSTPSEGSTPLTSMS
                     VSTMPVASSEASTLSTTPVDTSTPVTTSSEASSSSTTPEGTSIPTSTPSEGSTPLTNMP
                     VSTRLVVSSEASTTSTTPADSNTFVTTSSEASSSSTTAEGTSMPTSTYSERGTTITSMS
                     VSTTLVASSEASTLSTTPVDSNTPVTTSTEATSSSTTAEGTSMPTSTYTEGSTPLTSMP
                     VNTTLVASSEASTLSTTPVDTSTPVTTSTEASSSPTTADGASMPTSTPSEGSTPLTSMP
                     VSKTLLTSSEASTLSTTPLDTSTHITTSTEASCSPTTTEGTSMPISTPSEGSPLLTSIP
                     VSITPVTSPEASTLSTTPVDSNSPVTTSTEVSSSPTPAEGTSMPTSTYSEGRTPLTSMP
                     VSTTLVATSAISTLSTTPVDTSTPVTNSTEARSSPTTSEGTSMPTSTPGEGSTPLTSMP
                     DSTTPVVSSEARTLSATPVDTSTPVTTSTEATSSPTTAEGTSIPTSTPSEGTTPLTSTP
                     VSHTLVANSEASTLSTTPVDSNTPLTTSTEASSPPPTAEGTSMPTSTPSEGSTPLTRMP
                     VSTTMVASSETSTLSTTPADTSTPVTTYSQASSSSTTADGTSMPTSTYSEGSTPLTSVP
                     VSTRLVVSSEASTLSTTPVDTSIPVTTSTEASSSPTTAEGTSIPTSPPSEGTTPLASMP
                     VSTTLVVSSEANTLSTTPVDSKTQVATSTEASSPPPTAEVTSMPTSTPGERSTPLTSMP
                     VRHTPVASSEASTLSTSPVDTSTPVTTSAETSSSPTTAEGTSLPTSTTSEGSTLLTSIP
                     VSTTLVTSPEASTLLTTPVDTKGPVVTSNEVSSSPTPAEGTSMPTSTYSEGRTPLTSIP
                     VNTTLVASSAISILSTTPVDNSTPVTTSTEACSSPTTSEGTSMPNSNPSEGTTPLTSIP
                     VSTTPVVSSEASTLSATPVDTSTPGTTSAEATSSPTTAEGISIPTSTPSEGKTPLKSIP
                     VSNTPVANSEASTLSTTPVDSNSPVVTSTAVSSSPTPAEGTSIAISTPSEGSTALTSIP
                     VSTTTVASSEINSLSTTPAVTSTPVTTYSQASSSPTTADGTSMQTSTYSEGSTPLTSLP
                     VSTMLVVSSEANTLSTTPIDSKTQVTASTEASSSTTAEGSSMTISTPSEGSPLLTSIPV
                     STTPVASPEASTLSTTPVDSNSPVITSTEVSSSPTPAEGTSMPTSTYTEGRTPLTSITV
                     RTTPVASSAISTLSTTPVDNSTPVTTSTEARSSPTTSEGTSMPNSTPSEGTTPLTSIPV
                     STTPVLSSEASTLSATPIDTSTPVTTSTEATSSPTTAEGTSIPTSTLSEGMTPLTSTPV
                     SHTLVANSEASTLSTTPVDSNSPVVTSTAVSSSPTPAEGTSIATSTPSEGSTALTSIPV
                     STTTVASSETNTLSTTPAVTSTPVTTYAQVSSSPTTADGSSMPTSTPREGRPPLTSIPV
                     STTTVASSEINTLSTTLADTRTPVTTYSQASSSPTTADGTSMPTPAYSEGSTPLTSMPL
                     STTLVVSSEASTLSTTPVDTSTPATTSTEGSSSPTTAGGTSIQTSTPSERTTPLAGMPV
                     STTLVVSSEGNTLSTTPVDSKTQVTNSTEASSSATAEGSSMTISAPSEGSPLLTSIPLS
                     TTPVASPEASTLSTTPVDSNSPVITSTEVSSSPIPTEGTSMQTSTYSDRRTPLTSMPVS
                     TTVVASSAISTLSTTPVDTSTPVTNSTEARSSPTTSEGTSMPTSTPSEGSTPFTSMPVS
                     TMPVVTSEASTLSATPVDTSTPVTTSTEATSSPTTAEGTSIPTSTLSEGTTPLTSIPVS
                     HTLVANSEVSTLSTTPVDSNTPFTTSTEASSPPPTAEGTSMPTSTSSEGNTPLTRMPVS
                     TTMVASFETSTLSTTPADTSTPVTTYSQAGSSPTTADDTSMPTSTYSEGSTPLTSVPVS
                     TMPVVSSEASTHSTTPVDTSTPVTTSTEASSSPTTAEGTSIPTSPPSEGTTPLASMPVS
                     TTPVVSSEAGTLSTTPVDTSTPMTTSTEASSSPTTAEDIVVPISTASEGSTLLTSIPVS
                     TTPVASPEASTLSTTPVDSNSPVVTSTEISSSATSAEGTSMPTSTYSEGSTPLRSMPVS
                     TKPLASSEASTLSTTPVDTSIPVTTSTETSSSPTTAKDTSMPISTPSEVSTSLTSILVS
                     TMPVASSEASTLSTTPVDTRTLVTTSTGTSSSPTTAEGSSMPTSTPGERSTPLTNILVS
                     TTLLANSEASTLSTTPVDTSTPVTTSAEASSSPTTAEGTSMRISTPSDGSTPLTSILVS
                     TLPVASSEASTVSTTAVDTSIPVTTSTEASSSPTTAEVTSMPTSTPSETSTPLTSMPVN
                     HTPVASSEAGTLSTTPVDTSTPVTTSTKASSSPTTAEGIVVPISTASEGSTLLTSIPVS
                     TTPVASSEASTLSTTPVDTSIPVTTSTEGSSSPTTAEGTSMPISTPSEVSTPLTSILVS
                     TVPVAGSEASTLSTTPVDTRTPVTTSAEASSSPTTAEGTSMPISTPGERRTPLTSMSVS
                     TMPVASSEASTLSRTPADTSTPVTTSTEASSSPTTAEGTGIPISTPSEGSTPLTSIPVS
                     TTPVAIPEASTLSTTPVDSNSPVVTSTEVSSSPTPAEGTSMPISTYSEGSTPLTGVPVS
                     TTPVTSSAISTLSTTPVDTSTPVTTSTEAHSSPTTSEGTSMPTSTPSEGSTPLTYMPVS
                     TMLVVSSEDSTLSATPVDTSTPVTTSTEATSSTTAEGTSIPTSTPSEGMTPLTSVPVSN
                     TPVASSEASILSTTPVDSNTPLTTSTEASSSPPTAEGTSMPTSTPSEGSTPLTSMPVST
                     TTVASSETSTLSTTPADTSTPVTTYSQASSSPPIADGTSMPTSTYSEGSTPLTNMSFST
                     TPVVSSEASTLSTTPVDTSTPVTTSTEASLSPTTAEGTSIPTSSPSEGTTPLASMPVST
                     TPVVSSEVNTLSTTPVDSNTLVTTSTEASSSPTIAEGTSLPTSTTSEGSTPLSIMPLST
                     TPVASSEASTLSTTPVDTSTPVTTSSPTNSSPTTAEVTSMPTSTAGEGSTPLTNMPVST
                     TPVASSEASTLSTTPVDSNTFVTSSSQASSSPATLQVTTMRMSTPSEGSSSLTTMLLSS
                     TYVTSSEASTPSTPSVDRSTPVTTSTQSNSTPTPPEVITLPMSTPSEVSTPLTIMPVST
                     TSVTISEAGTASTLPVDTSTPVITSTQVSSSPVTPEGTTMPIWTPSEGSTPLTTMPVST
                     TRVTSSEGSTLSTPSVVTSTPVTTSTEAISSSATLDSTTMSVSMPMEISTLGTTILVST
                     TPVTRFPESSTPSIPSVYTSMSMTTASEGSSSPTTLEGTTTMPMSTTSERSTLLTTVLI
                     SPISVMSPSEASTLSTPPGDTSTPLLTSTKAGSFSIPAEVTTIRISITSERSTPLTTLL
                     VSTTLPTSFPGASIASTPPLDTSTTFTPSTDTASTPTIPVATTISVSVITEGSTPGTTI
                     FIPSTPVTSSTADVFPATTGAVSTPVITSTELNTPSTSSSSTTTSFSTTKEFTTPAMTT
                     AAPLTYVTMSTAPSTPRTTSRGCTTSASTLSATSTPHTSTSVTTRPVTPSSESSRPSTI
                     TSHTIPPTFPPAHSSTPPTTSASSTTVNPEAVTTMTTRTKPSTRTTSFPTVTTTAVPTN
                     TTIKSNPTSTPTVPRTTTCFGDGCQNTASRCKNGGTWDGLKCQCPNLYYGELCEEVVSS
                     IDIGPPETISAQMELTVTVTSVKFTEELKNHSSQEFQEFKQTFTEQMNIVYSGIPEYVG
                     VNITKLRLGSVVVEHDVLLRTKYTPEYKTVLDNATEVVKEKITKVTTQQIMINDICSDM
                     MCFNTTGTQVQNITVTQYDPEEDCRKMAKEYGDYFVVEYRDQKPYCISPCEPGFSVSKN
                     CNLGKCQMSLSGPQCLCVTTETHWYSGETCNQGTQKSLVYGLVGAGVVLMLIILVALLM
                     LVFRSKREVKRQKYRLSQLYKWQEEDSGPAPGTFQNIGFDICQDDDSIHLESIYSNFQP
                     SLRHIDPETKIRIQRPQVMTTSF"
     sig_peptide     56..130
                     /gene="MUC17"
                     /gene_synonym="MUC-17; MUC-3; MUC3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
ORIGIN
        1 catttcgcca gctcctctgg gggtgacagg caagtgagac gtgctcagag ctccgatgcc
       61 aaggccaggg accatggcgc tgtgtctgct gaccttggtc ctctcgctct tgcccccaca
      121 agctgctgca gaacaggacc tcagtgtgaa cagggctgtg tgggatggag gagggtgcat
      181 ctcccaaggg gacgtcttga accgtcagtg ccagcagctg tctcagcacg ttaggacagg
      241 ttctgcggca aacaccgcca caggtacaac atctacaaat gtcgtggagc caagaatgta
      301 tttgagttgc agcaccaacc ctgagatgac ctcgattgag tccagtgtga cttcagacac
      361 tcctggtgtc tccagtacca ggatgacacc aacagaatcc agaacaactt cagaatctac
      421 cagtgacagc accacacttt tccccagttc tactgaagac acttcatctc ctacaactcc
      481 tgaaggcacc gacgtgccca tgtcaacacc aagtgaagaa agcatttcat caacaatggc
      541 ttttgtcagc actgcacctc ttcccagttt tgaggcctac acatctttaa catataaggt
      601 tgatatgagc acacctctga ccacttctac tcaggcaagt tcatctccta ctactcctga
      661 aagcaccacc atacccaaat caactaacag tgaaggaagc actccattaa caagtatgcc
      721 tgccagcacc atgaaggtgg ccagttcaga ggctatcacc cttttgacaa ctcctgttga
      781 aatcagcaca cctgtgacca tttctgctca agccagttca tctcctacaa ctgctgaagg
      841 tcccagcctg tcaaactcag ctcctagtgg aggaagcact ccattaacaa gaatgcctct
      901 cagcgtgatg ctggtggtca gttctgaggc tagcaccctt tcaacaactc ctgctgccac
      961 caacattcct gtgatcactt ctactgaagc cagttcatct cctacaacgg ctgaaggcac
     1021 cagcatacca acctcaactt atactgaagg aagcactcca ttaacaagta cgcctgccag
     1081 caccatgccg gttgccactt ctgaaatgag cacactttca ataactcctg ttgacaccag
     1141 cacacttgtg accacttcta ctgaacccag ttcacttcct acaactgctg aagctaccag
     1201 catgctaacc tcaactctta gtgaaggaag cactccatta acaaatatgc ctgtcagcac
     1261 catattggtg gccagttctg aggctagcac cacttcaaca attcctgttg actccaaaac
     1321 ttttgtgacc actgctagtg aagccagctc atctcccaca actgctgaag ataccagcat
     1381 tgcaacctca actcctagtg aaggaagcac tccattaaca agtatgcctg tcagcaccac
     1441 tccagtggcc agttctgagg ctagcaacct ttcaacaact cctgttgact ccaaaactca
     1501 ggtgaccact tctactgaag ccagttcatc tcctccaact gctgaagtta acagcatgcc
     1561 aacctcaact cctagtgaag gaagcactcc attaacaagt atgtctgtca gcaccatgcc
     1621 ggtggccagt tctgaggcta gcaccctttc aacaactcct gttgacacca gcacacctgt
     1681 gaccacttct agtgaagcca gttcatcttc tacaactcct gaaggtacca gcataccaac
     1741 ctcaactcct agtgaaggaa gcactccatt aacaaacatg cctgtcagca ccaggctggt
     1801 ggtcagttct gaggctagca ccacttcaac aactcctgct gactccaaca cttttgtgac
     1861 cacttctagt gaagctagtt catcttctac aactgctgaa ggtaccagca tgccaacctc
     1921 aacttacagt gaaagaggca ctacaataac aagtatgtct gtcagcacca cactggtggc
     1981 cagttctgag gctagcaccc tttcaacaac tcctgttgac tccaacactc ctgtgaccac
     2041 ttcaactgaa gccacttcat cttctacaac tgcggaaggt accagcatgc caacctcaac
     2101 ttatactgaa ggaagcactc cattaacaag tatgcctgtc aacaccacac tggtggccag
     2161 ttctgaggct agcacccttt caacaactcc tgttgacacc agcacacctg tgaccacttc
     2221 aactgaagcc agttcctctc ctacaactgc tgatggtgcc agtatgccaa cctcaactcc
     2281 tagtgaagga agcactccat taacaagtat gcctgtcagc aaaacgctgt tgaccagttc
     2341 tgaggctagc accctttcaa caactcctct tgacacaagc acacatatca ccacttctac
     2401 tgaagccagt tgctctccta caaccactga aggtaccagc atgccaatct caactcctag
     2461 tgaaggaagt cctttattaa caagtatacc tgtcagcatc acaccggtga ccagtcctga
     2521 ggctagcacc ctttcaacaa ctcctgttga ctccaacagt cctgtgacca cttctactga
     2581 agtcagttca tctcctacac ctgctgaagg taccagcatg ccaacctcaa cttatagtga
     2641 aggaagaact cctttaacaa gtatgcctgt cagcaccaca ctggtggcca cttctgcaat
     2701 cagcaccctt tcaacaactc ctgttgacac cagcacacct gtgaccaatt ctactgaagc
     2761 ccgttcgtct cctacaactt ctgaaggtac cagcatgcca acctcaactc ctggggaagg
     2821 aagcactcca ttaacaagta tgcctgacag caccacgccg gtagtcagtt ctgaggctag
     2881 aacactttca gcaactcctg ttgacaccag cacacctgtg accacttcta ctgaagccac
     2941 ttcatctcct acaactgctg aaggtaccag cataccaacc tcgactccta gtgaaggaac
     3001 gactccatta acaagcacac ctgtcagcca cacgctggtg gccaattctg aggctagcac
     3061 cctttcaaca actcctgttg actccaacac tcctttgacc acttctactg aagccagttc
     3121 acctcctccc actgctgaag gtaccagcat gccaacctca actcctagtg aaggaagcac
     3181 tccattaaca cgtatgcctg tcagcaccac aatggtggcc agttctgaaa cgagcacact
     3241 ttcaacaact cctgctgaca ccagcacacc tgtgaccact tattctcaag ccagttcatc
     3301 ttctacaact gctgacggta ccagcatgcc aacctcaact tatagtgaag gaagcactcc
     3361 actaacaagt gtgcctgtca gcaccaggct ggtggtcagt tctgaggcta gcaccctttc
     3421 cacaactcct gtcgacacca gcatacctgt caccacttct actgaagcca gttcatctcc
     3481 tacaactgct gaaggtacca gcataccaac ctcacctccc agtgaaggaa ccactccgtt
     3541 agcaagtatg cctgtcagca ccacgctggt ggtcagttct gaggctaaca ccctttcaac
     3601 aactcctgtg gactccaaaa ctcaggtggc cacttctact gaagccagtt cacctcctcc
     3661 aactgctgaa gttaccagca tgccaacctc aactcctgga gaaagaagca ctccattaac
     3721 aagtatgcct gtcagacaca cgccagtggc cagttctgag gctagcaccc tttcaacatc
     3781 tcccgttgac accagcacac ctgtgaccac ttctgctgaa accagttcct ctcctacaac
     3841 cgctgaaggt accagcttgc caacctcaac tactagtgaa ggaagtactc tattaacaag
     3901 tatacctgtc agcaccacgc tggtgaccag tcctgaggct agcacccttt taacaactcc
     3961 tgttgacact aaaggtcctg tggtcacttc taatgaagtc agttcatctc ctacacctgc
     4021 tgaaggtacc agcatgccaa cctcaactta tagtgaagga agaactcctt taacaagtat
     4081 acctgtcaac accacactgg tggccagttc tgcaatcagc atcctttcaa caactcctgt
     4141 tgacaacagc acacctgtga ccacttctac tgaagcctgt tcatctccta caacttctga
     4201 aggtaccagc atgccaaact caaatcctag tgaaggaacc actccgttaa caagtatacc
     4261 tgtcagcacc acgccggtag tcagttctga ggctagcacc ctttcagcaa ctcctgttga
     4321 caccagcacc cctgggacca cttctgctga agccacttca tctcctacaa ctgctgaagg
     4381 tatcagcata ccaacctcaa ctcctagtga aggaaagact ccattaaaaa gtatacctgt
     4441 cagcaacacg ccggtggcca attctgaggc tagcaccctt tcaacaactc ctgttgactc
     4501 taacagtcct gtggtcactt ctacagcagt cagttcatct cctacacctg ctgaaggtac
     4561 cagcatagca atctcaacgc ctagtgaagg aagcactgca ttaacaagta tacctgtcag
     4621 caccacaaca gtggccagtt ctgaaatcaa cagcctttca acaactcctg ctgtcaccag
     4681 cacacctgtg accacttatt ctcaagccag ttcatctcct acaactgctg acggtaccag
     4741 catgcaaacc tcaacttata gtgaaggaag cactccacta acaagtttgc ctgtcagcac
     4801 catgctggtg gtcagttctg aggctaacac cctttcaaca acccctattg actccaaaac
     4861 tcaggtgacc gcttctactg aagccagttc atctacaacc gctgaaggta gcagcatgac
     4921 aatctcaact cctagtgaag gaagtcctct attaacaagt atacctgtca gcaccacgcc
     4981 ggtggccagt cctgaggcta gcaccctttc aacaactcct gttgactcca acagtcctgt
     5041 gatcacttct actgaagtca gttcatctcc tacacctgct gaaggtacca gcatgccaac
     5101 ctcaacttat actgaaggaa gaactccttt aacaagtata actgtcagaa caacaccggt
     5161 ggccagctct gcaatcagca ccctttcaac aactcccgtt gacaacagca cacctgtgac
     5221 cacttctact gaagcccgtt catctcctac aacttctgaa ggtaccagca tgccaaactc
     5281 aactcctagt gaaggaacca ctccattaac aagtatacct gtcagcacca cgccggtact
     5341 cagttctgag gctagcaccc tttcagcaac tcctattgac accagcaccc ctgtgaccac
     5401 ttctactgaa gccacttcgt ctcctacaac tgctgaaggt accagcatac caacctcgac
     5461 tcttagtgaa ggaatgactc cattaacaag cacacctgtc agccacacgc tggtggccaa
     5521 ttctgaggct agcacccttt caacaactcc tgttgactct aacagtcctg tggtcacttc
     5581 tacagcagtc agttcatctc ctacacctgc tgaaggtacc agcatagcaa cctcaacgcc
     5641 tagtgaagga agcactgcat taacaagtat acctgtcagc accacaacag tggccagttc
     5701 tgaaaccaac accctttcaa caactcccgc tgtcaccagc acacctgtga ccacttatgc
     5761 tcaagtcagt tcatctccta caactgctga cggtagcagc atgccaacct caactcctag
     5821 ggaaggaagg cctccattaa caagtatacc tgtcagcacc acaacagtgg ccagttctga
     5881 aatcaacacc ctttcaacaa ctcttgctga caccaggaca cctgtgacca cttattctca
     5941 agccagttca tctcctacaa ctgctgatgg taccagcatg ccaaccccag cttatagtga
     6001 aggaagcact ccactaacaa gtatgcctct cagcaccacg ctggtggtca gttctgaggc
     6061 tagcactctt tccacaactc ctgttgacac cagcactcct gccaccactt ctactgaagg
     6121 cagttcatct cctacaactg caggaggtac cagcatacaa acctcaactc ctagtgaacg
     6181 gaccactcca ttagcaggta tgcctgtcag cactacgctt gtggtcagtt ctgagggtaa
     6241 caccctttca acaactcctg ttgactccaa aactcaggtg accaattcta ctgaagccag
     6301 ttcatctgca accgctgaag gtagcagcat gacaatctca gctcctagtg aaggaagtcc
     6361 tctactaaca agtatacctc tcagcaccac gccggtggcc agtcctgagg ctagcaccct
     6421 ttcaacaact cctgttgact ccaacagtcc tgtgatcact tctactgaag tcagttcatc
     6481 tcctatacct actgaaggta ccagcatgca aacctcaact tatagtgaca gaagaactcc
     6541 tttaacaagt atgcctgtca gcaccacagt ggtggccagt tctgcaatca gcaccctttc
     6601 aacaactcct gttgacacca gcacacctgt gaccaattct actgaagccc gttcatctcc
     6661 tacaacttct gaaggtacca gcatgccaac ctcaactcct agtgaaggaa gcactccatt
     6721 cacaagtatg cctgtcagca ccatgccggt agttacttct gaggctagca ccctttcagc
     6781 aactcctgtt gacaccagca cacctgtgac cacttctact gaagccactt catctcctac
     6841 aactgctgaa ggtaccagca taccaacttc aactcttagt gaaggaacga ctccattaac
     6901 aagtatacct gtcagccaca cgctggtggc caattctgag gttagcaccc tttcaacaac
     6961 tcctgttgac tccaacactc ctttcactac ttctactgaa gccagttcac ctcctcccac
     7021 tgctgaaggt accagcatgc caacctcaac ttctagtgaa ggaaacactc cattaacacg
     7081 tatgcctgtc agcaccacaa tggtggccag ttttgaaaca agcacacttt ctacaactcc
     7141 tgctgacacc agcacacctg tgactactta ttctcaagcc ggttcatctc ctacaactgc
     7201 tgacgatact agcatgccaa cctcaactta tagtgaagga agcactccac taacaagtgt
     7261 gcctgtcagc accatgccgg tggtcagttc tgaggctagc acccattcca caactcctgt
     7321 tgacaccagc acacctgtca ccacttctac tgaagccagt tcatctccta caactgctga
     7381 aggtaccagc ataccaacct cacctcctag tgaaggaacc actccgttag caagtatgcc
     7441 tgtcagcacc acgccggtgg tcagttctga ggctggcacc ctttccacaa ctcctgttga
     7501 caccagcaca cctatgacca cttctactga agccagttca tctcctacaa ctgctgaaga
     7561 tatcgtcgtg ccaatctcaa ctgctagtga aggaagtact ctattaacaa gtatacctgt
     7621 cagcaccacg ccagtggcca gtcctgaggc tagcaccctt tcaacaactc ctgttgactc
     7681 caacagtcct gtggtcactt ctactgaaat cagttcatct gctacatccg ctgaaggtac
     7741 cagcatgcct acctcaactt atagtgaagg aagcactcca ttaagaagta tgcctgtcag
     7801 caccaagccg ttggccagtt ctgaggctag cactctttca acaactcctg ttgacaccag
     7861 catacctgtc accacttcta ctgaaaccag ttcatctcct acaactgcaa aagataccag
     7921 catgccaatc tcaactccta gtgaagtaag tacttcatta acaagtatac ttgtcagcac
     7981 catgccagtg gccagttctg aggctagcac cctttcaaca actcctgttg acaccaggac
     8041 acttgtgacc acttccactg gaaccagttc atctcctaca actgctgaag gtagcagcat
     8101 gccaacctca actcctggtg aaagaagcac tccattaaca aatatacttg tcagcaccac
     8161 gctgttggcc aattctgagg ctagcaccct ttcaacaact cctgttgaca ccagcacacc
     8221 tgtcaccact tctgctgaag ccagttcttc tcctacaact gctgaaggta ccagcatgcg
     8281 aatctcaact cctagtgatg gaagtactcc attaacaagt atacttgtca gcaccctgcc
     8341 agtggccagt tctgaggcta gcaccgtttc aacaactgct gttgacacca gcatacctgt
     8401 caccacttct actgaagcca gttcctctcc tacaactgct gaagttacca gcatgccaac
     8461 ctcaactcct agtgaaacaa gtactccatt aactagtatg cctgtcaacc acacgccagt
     8521 ggccagttct gaggctggca ccctttcaac aactcctgtt gacaccagca cacctgtgac
     8581 cacttctact aaagccagtt catctcctac aactgctgaa ggtatcgtcg tgccaatctc
     8641 aactgctagt gaaggaagta ctctattaac aagtatacct gtcagcacca cgccggtggc
     8701 cagttctgag gctagcaccc tttcaacaac tcctgttgat accagcatac ctgtcaccac
     8761 ttctactgaa ggcagttctt ctcctacaac tgctgaaggt accagcatgc caatctcaac
     8821 tcctagtgaa gtaagtactc cattaacaag tatacttgtc agcaccgtgc cagtggccgg
     8881 ttctgaggct agcacccttt caacaactcc tgttgacacc aggacacctg tcaccacttc
     8941 tgctgaagct agttcttctc ctacaactgc tgaaggtacc agcatgccaa tctcaactcc
     9001 tggcgaaaga agaactccat taacaagtat gtctgtcagc accatgccgg tggccagttc
     9061 tgaggctagc accctttcaa gaactcctgc tgacaccagc acacctgtga ccacttctac
     9121 tgaagccagt tcctctccta caactgctga aggtaccggc ataccaatct caactcctag
     9181 tgaaggaagt actccattaa caagtatacc tgtcagcacc acgccagtgg ccattcctga
     9241 ggctagcacc ctttcaacaa ctcctgttga ctccaacagt cctgtggtca cttctactga
     9301 agtcagttca tctcctacac ctgctgaagg taccagcatg ccaatctcaa cttatagtga
     9361 aggaagcact ccattaacag gtgtgcctgt cagcaccaca ccggtgacca gttctgcaat
     9421 cagcaccctt tcaacaactc ctgttgacac cagcacacct gtgaccactt ctactgaagc
     9481 ccattcatct cctacaactt ctgaaggtac cagcatgcca acctcaactc ctagtgaagg
     9541 aagtactcca ttaacatata tgcctgtcag caccatgctg gtagtcagtt ctgaggatag
     9601 caccctttca gcaactcctg ttgacaccag cacacctgtg accacttcta ctgaagccac
     9661 ttcatctaca actgctgaag gtaccagcat tccaacctca actcctagtg aaggaatgac
     9721 tccattaact agtgtacctg tcagcaacac gccggtggcc agttctgagg ctagcatcct
     9781 ttcaacaact cctgttgact ccaacactcc tttgaccact tctactgaag ccagttcatc
     9841 tcctcccact gctgaaggta ccagcatgcc aacctcaact cctagtgaag gaagcactcc
     9901 attaacaagt atgcctgtca gcaccacaac ggtggccagt tctgaaacga gcaccctttc
     9961 aacaactcct gctgacacca gcacacctgt gaccacttat tctcaagcca gttcatctcc
    10021 tccaattgct gacggtacta gcatgccaac ctcaacttat agtgaaggaa gcactccact
    10081 aacaaatatg tctttcagca ccacgccagt ggtcagttct gaggctagca ccctttccac
    10141 aactcctgtt gacaccagca cacctgtcac cacttctact gaagccagtt tatctcctac
    10201 aactgctgaa ggtaccagca taccaacctc aagtcctagt gaaggaacca ctccattagc
    10261 aagtatgcct gtcagcacca cgccggtggt cagttctgag gttaacaccc tttcaacaac
    10321 tcctgtggac tccaacactc tggtgaccac ttctactgaa gccagttcat ctcctacaat
    10381 cgctgaaggt accagcttgc caacctcaac tactagtgaa ggaagcactc cattatcaat
    10441 tatgcctctc agtaccacgc cggtggccag ttctgaggct agcacccttt caacaactcc
    10501 tgttgacacc agcacacctg tgaccacttc ttctccaacc aattcatctc ctacaactgc
    10561 tgaagttacc agcatgccaa catcaactgc tggtgaagga agcactccat taacaaatat
    10621 gcctgtcagc accacaccgg tggccagttc tgaggctagc accctttcaa caactcctgt
    10681 tgactccaac acttttgtta ccagttctag tcaagccagt tcatctccag caactcttca
    10741 ggtcaccact atgcgtatgt ctactccaag tgaaggaagc tcttcattaa caactatgct
    10801 cctcagcagc acatatgtga ccagttctga ggctagcaca ccttccactc cttctgttga
    10861 cagaagcaca cctgtgacca cttctactca gagcaattct actcctacac ctcctgaagt
    10921 tatcaccctg ccaatgtcaa ctcctagtga agtaagcact ccattaacca ttatgcctgt
    10981 cagcaccaca tcggtgacca tttctgaggc tggcacagct tcaacacttc ctgttgacac
    11041 cagcacacct gtgatcactt ctacccaagt cagttcatct cctgtgactc ctgaaggtac
    11101 caccatgcca atctggacgc ctagtgaagg aagcactcca ttaacaacta tgcctgtcag
    11161 caccacacgt gtgaccagct ctgagggtag caccctttca acaccttctg ttgtcaccag
    11221 cacacctgtg accacttcta ctgaagccat ttcatcttct gcaactcttg acagcaccac
    11281 catgtctgtg tcaatgccca tggaaataag cacccttggg accactattc ttgtcagtac
    11341 cacacctgtt acgaggtttc ctgagagtag caccccttcc ataccatctg tttacaccag
    11401 catgtctatg accactgcct ctgaaggcag ttcatctcct acaactcttg aaggcaccac
    11461 caccatgcct atgtcaacta cgagtgaaag aagcacttta ttgacaactg tcctcatcag
    11521 ccctatatct gtgatgagtc cttctgaggc cagcacactt tcaacacctc ctggtgatac
    11581 cagcacacct ttgctcacct ctaccaaagc cggttcattc tccatacctg ctgaagtcac
    11641 taccatacgt atttcaatta ccagtgaaag aagcactcca ttaacaactc tccttgtcag
    11701 caccacactt ccaactagct ttcctggggc cagcatagct tcgacacctc ctcttgacac
    11761 aagcacaact tttacccctt ctactgacac tgcctcaact cccacaattc ctgtagccac
    11821 caccatatct gtatcagtga tcacagaagg aagcacacct gggacaacca tttttattcc
    11881 cagcactcct gtcaccagtt ctactgctga tgtctttcct gcaacaactg gtgctgtatc
    11941 tacccctgtg ataacttcca ctgaactaaa cacaccatca acctccagta gtagtaccac
    12001 cacatctttt tcaactacta aggaatttac aacacccgca atgactactg cagctcccct
    12061 cacatatgtg accatgtcta ctgcccccag cacacccaga acaaccagca gaggctgcac
    12121 tacttctgca tcaacgcttt ctgcaaccag tacacctcac acctctactt ctgtcaccac
    12181 ccgtcctgtg accccttcat cagaatccag caggccgtca acaattactt ctcacaccat
    12241 cccacctaca tttcctcctg ctcactccag tacacctcca acaacctctg cctcctccac
    12301 gactgtgaac cctgaggctg tcaccaccat gaccaccagg acaaaaccca gcacacggac
    12361 cacttccttc cccacggtga ccaccaccgc tgtccccacg aatactacaa ttaagagcaa
    12421 ccccacctca actcctactg tgccaagaac cacaacatgc tttggagatg ggtgccagaa
    12481 tacggcctct cgctgcaaga atggaggcac ctgggatggg ctcaagtgcc agtgtcccaa
    12541 cctctattat ggggagttgt gtgaggaggt ggtcagcagc attgacatag ggccaccgga
    12601 gactatctct gcccaaatgg aactgactgt gacagtgacc agtgtgaagt tcaccgaaga
    12661 gctaaaaaac cactcttccc aggaattcca ggagttcaaa cagacattca cggaacagat
    12721 gaatattgtg tattccggga tccctgagta tgtcggggtg aacatcacaa agctacgtct
    12781 tggcagtgtg gtggtggagc atgacgtcct cctaagaacc aagtacacac cagaatacaa
    12841 gacagtattg gacaatgcca ccgaagtagt gaaagagaaa atcacaaaag tgaccacaca
    12901 gcaaataatg attaatgata tttgctcaga catgatgtgt ttcaacacca ctggcaccca
    12961 agtgcaaaac attacggtga cccagtacga ccctgaagag gactgccgga agatggccaa
    13021 ggaatatgga gactacttcg tagtggagta ccgggaccag aagccatact gcatcagccc
    13081 ctgtgagcct ggcttcagtg tctccaagaa ctgtaacctc ggcaagtgcc agatgtctct
    13141 aagtggacct cagtgcctct gcgtgaccac ggaaactcac tggtacagtg gggagacctg
    13201 taaccagggc acccagaaga gtctggtgta cggcctcgtg ggggcagggg tcgtgctgat
    13261 gctgatcatc ctggtagctc tcctgatgct cgttttccgc tccaagagag aggtgaaacg
    13321 gcaaaagtac agattgtctc agttatacaa gtggcaagaa gaggacagtg gaccagctcc
    13381 tgggaccttc caaaacattg gctttgacat ctgccaagat gatgattcca tccacctgga
    13441 gtccatctat agtaatttcc agccctcctt gagacacata gaccctgaaa caaagatccg
    13501 aattcagagg cctcaggtaa tgacgacatc attttaaggc atggagctga gaagtctggg
    13561 agtgaggaga tcccagtccg gctaagcttg gtggagcatt ttcccattga gagccttcca
    13621 tgggaactca atgttcccat tgtaagtaca ggaaacaagc cctgtactta ccaaggagaa
    13681 agaggagaga cagcagtgct gggagattct caaatagaaa cccgtggacg ctccaatggg
    13741 cttgtcatga tatcaggcta ggctttcctg ctcatttttc aaagacgctc cagatttgag
    13801 ggtactctga ctgcaacatc tttcacccca ttgatcgcca ggattgattt ggttgatctg
    13861 gctgagcagg cgggtgtccc cgtcctccct cactgcccca tatgtgtccc tcctaaagct
    13921 gcatgctcag ttgaagagga cgagaggacg accttctctg atagaggagg accacgcttc
    13981 agtcaaaggc atacaagtat ctatctggac ttccctgcta gcacttccaa acaagctcag
    14041 agatgttcct cccctcatct gcccgggttc agtaccatgg acagcgccct cgacccgctg
    14101 tttacaacca tgaccccttg gacactggac tgcatgcact ttacatatca caaaatgctc
    14161 tcataagaat tattgcatac catcttcatg aaaaacacct gtatttaaat atagagcatt
    14221 taccttttgg tatataagat tgtgggtatt ttttaagttc ttattgttat gagttctgat
    14281 tttttcctta gtaaatatta taatatatat ttgtagtaac taaaaataat aaagcaattt
    14341 tattacaatt tt
//
LOCUS       NM_001040108            7820 bp    mRNA    linear   PRI 18-MAR-2023
DEFINITION  Homo sapiens mutL homolog 3 (MLH3), transcript variant 1, mRNA.
ACCESSION   NM_001040108
VERSION     NM_001040108.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7820)
  AUTHORS   Khailany RA and Ozaslan M.
  TITLE     Exonic sequencing and MLH3 gene expression analysis of breast cancer
            patients
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 67 (3), 35-43 (2021)
   PUBMED   34933735
  REMARK    GeneRIF: Exonic sequencing and MLH3 gene expression analysis of
            breast cancer patients. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 7820)
  AUTHORS   Nawaz S, Ullah MI, Hamid BS, Nargis J, Nawaz M, Hussain S and Ahmad
            W.
  TITLE     A loss-of-function variant in DNA mismatch repair gene MLH3
            underlies severe oligozoospermia
  JOURNAL   J Hum Genet 66 (7), 725-730 (2021)
   PUBMED   33517345
  REMARK    GeneRIF: A loss-of-function variant in DNA mismatch repair gene MLH3
            underlies severe oligozoospermia.
REFERENCE   3  (bases 1 to 7820)
  AUTHORS   Rahman MM, Mohiuddin M, Shamima Keka I, Yamada K, Tsuda M, Sasanuma
            H, Andreani J, Guerois R, Borde V, Charbonnier JB and Takeda S.
  TITLE     Genetic evidence for the involvement of mismatch repair proteins,
            PMS2 and MLH3, in a late step of homologous recombination
  JOURNAL   J Biol Chem 295 (51), 17460-17475 (2020)
   PUBMED   33453991
  REMARK    GeneRIF: Genetic evidence for the involvement of mismatch repair
            proteins, PMS2 and MLH3, in a late step of homologous recombination.
REFERENCE   4  (bases 1 to 7820)
  AUTHORS   Cannavo E, Sanchez A, Anand R, Ranjha L, Hugener J, Adam C, Acharya
            A, Weyland N, Aran-Guiu X, Charbonnier JB, Hoffmann ER, Borde V,
            Matos J and Cejka P.
  TITLE     Regulation of the MLH1-MLH3 endonuclease in meiosis
  JOURNAL   Nature 586 (7830), 618-622 (2020)
   PUBMED   32814904
  REMARK    GeneRIF: Regulation of the MLH1-MLH3 endonuclease in meiosis.
            Erratum:[Nature. 2021 Feb;590(7844):E29. PMID: 33469227]
REFERENCE   5  (bases 1 to 7820)
  AUTHORS   Kadyrova LY, Gujar V, Burdett V, Modrich PL and Kadyrov FA.
  TITLE     Human MutLgamma, the MLH1-MLH3 heterodimer, is an endonuclease that
            promotes DNA expansion
  JOURNAL   Proc Natl Acad Sci U S A 117 (7), 3535-3542 (2020)
   PUBMED   32015124
  REMARK    GeneRIF: MutLgamma, the MLH1-MLH3 heterodimer, is a unique
            endonuclease that can initiate triplet repeat DNA expansions.
REFERENCE   6  (bases 1 to 7820)
  AUTHORS   Lipkin SM, Wang V, Stoler DL, Anderson GR, Kirsch I, Hadley D, Lynch
            HT and Collins FS.
  TITLE     Germline and somatic mutation analyses in the DNA mismatch repair
            gene MLH3: Evidence for somatic mutation in colorectal cancers
  JOURNAL   Hum Mutat 17 (5), 389-396 (2001)
   PUBMED   11317354
REFERENCE   7  (bases 1 to 7820)
  AUTHORS   Kondo E, Horii A and Fukushige S.
  TITLE     The interacting domains of three MutL heterodimers in man: hMLH1
            interacts with 36 homologous amino acid residues within hMLH3, hPMS1
            and hPMS2
  JOURNAL   Nucleic Acids Res 29 (8), 1695-1702 (2001)
   PUBMED   11292842
REFERENCE   8  (bases 1 to 7820)
  AUTHORS   Lipkin SM, Wang V, Jacoby R, Banerjee-Basu S, Baxevanis AD, Lynch
            HT, Elliott RM and Collins FS.
  TITLE     MLH3: a DNA mismatch repair gene associated with mammalian
            microsatellite instability
  JOURNAL   Nat Genet 24 (1), 27-35 (2000)
   PUBMED   10615123
REFERENCE   9  (bases 1 to 7820)
  AUTHORS   Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M,
            Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC,
            Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen
            D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HA, Haines
            JL, Perkicak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM and
            St George-Hyslop PH.
  TITLE     Cloning of a gene bearing missense mutations in early-onset familial
            Alzheimer's disease
  JOURNAL   Nature 375 (6534), 754-760 (1995)
   PUBMED   7596406
REFERENCE   10  (bases 1 to 7820)
  AUTHORS   Idos,G. and Valle,L.
  TITLE     Lynch Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301390
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.2612854.1,
            SRR14038192.3759035.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000355774.7/ ENSP00000348020.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA805814.1, AB039667.1,
            AL049780.4 and BX090851.1.
            On Dec 27, 2019 this sequence version replaced NM_001040108.1.
            Summary: This gene is a member of the MutL-homolog (MLH) family of
            DNA mismatch repair (MMR) genes. MLH genes are implicated in
            maintaining genomic integrity during DNA replication and after
            meiotic recombination. The protein encoded by this gene functions
            as a heterodimer with other family members. Somatic mutations in
            this gene frequently occur in tumors exhibiting microsatellite
            instability, and germline mutations have been linked to hereditary
            nonpolyposis colorectal cancer type 7 (HNPCC7). Several
            alternatively spliced transcript variants have been identified, but
            the full-length nature of only two transcript variants has been
            determined. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..7820
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..7820
                     /gene="MLH3"
                     /gene_synonym="HNPCC7"
                     /note="mutL homolog 3"
                     /db_xref="GeneID:27030"
                     /db_xref="HGNC:HGNC:7128"
                     /db_xref="MIM:604395"
     misc_feature    74..76
                     /gene="MLH3"
                     /gene_synonym="HNPCC7"
                     /note="upstream in-frame stop codon"
     CDS             152..4513
                     /gene="MLH3"
                     /gene_synonym="HNPCC7"
                     /note="isoform 1 is encoded by transcript variant 1; DNA
                     mismatch repair protein MLH3"
                     /codon_start=1
                     /product="DNA mismatch repair protein Mlh3 isoform 1"
                     /protein_id="NP_001035197.1"
                     /db_xref="CCDS:CCDS32123.1"
                     /db_xref="GeneID:27030"
                     /db_xref="HGNC:HGNC:7128"
                     /db_xref="MIM:604395"
                     /translation="MIKCLSVEVQAKLRSGLAISSLGQCVEELALNSIDAEAKCVAVRV
                     NMETFQVQVIDNGFGMGSDDVEKVGNRYFTSKCHSVQDLENPRFYGFRGEALANIADMA
                     SAVEISSKKNRTMKTFVKLFQSGKALKACEADVTRASAGTTVTVYNLFYQLPVRRKCMD
                     PRLEFEKVRQRIEALSLMHPSISFSLRNDVSGSMVLQLPKTKDVCSRFCQIYGLGKSQK
                     LREISFKYKEFELSGYISSEAHYNKNMQFLFVNKRLVLRTKLHKLIDFLLRKESIICKP
                     KNGPTSRQMNSSLRHRSTPELYGIYVINVQCQFCEYDVCMEPAKTLIEFQNWDTLLFCI
                     QEGVKMFLKQEKLFVELSGEDIKEFSEDNGFSLFDATLQKRVTSDERSNFQEACNNILD
                     SYEMFNLQSKAVKRKTTAENVNTQSSRDSEATRKNTNDAFLYIYESGGPGHSKMTEPSL
                     QNKDSSCSESKMLEQETIVASEAGENEKHKKSFLEHSSLENPCGTSLEMFLSPFQTPCH
                     FEESGQDLEIWKESTTVNGMAANILKNNRIQNQPKRFKDATEVGCQPLPFATTLWGVHS
                     AQTEKEKKKESSNCGRRNVFSYGRVKLCSTGFITHVVQNEKTKSTETEHSFKNYVRPGP
                     TRAQETFGNRTRHSVETPDIKDLASTLSKESGQLPNKKNCRTNISYGLENEPTATYTMF
                     SAFQEGSKKSQTDCILSDTSPSFPWYRHVSNDSRKTDKLIGFSKPIVRKKLSLSSQLGS
                     LEKFKRQYGKVENPLDTEVEESNGVTTNLSLQVEPDILLKDKNRLENSDVCKITTMEHS
                     DSDSSCQPASHILNSEKFPFSKDEDCLEQQMPSLRESPMTLKELSLFNRKPLDLEKSSE
                     SLASKLSRLKGSERETQTMGMMSRFNELPNSDSSRKDSKLCSVLTQDFCMLFNNKHEKT
                     ENGVIPTSDSATQDNSFNKNSKTHSNSNTTENCVISETPLVLPYNNSKVTGKDSDVLIR
                     ASEQQIGSLDSPSGMLMNPVEDATGDQNGICFQSEESKARACSETEESNTCCSDWQRHF
                     DVALGRMVYVNKMTGLSTFIAPTEDIQAACTKDLTTVAVDVVLENGSQYRCQPFRSDLV
                     LPFLPRARAERTVMRQDNRDTVDDTVSSESLQSLFSEWDNPVFARYPEVAVDVSSGQAE
                     SLAVKIHNILYPYRFTKGMIHSMQVLQQVDNKFIACLMSTKTEENGEAGGNLLVLVDQH
                     AAHERIRLEQLIIDSYEKQQAQGSGRKKLLSSTLIPPLEITVTEEQRRLLWCYHKNLED
                     LGLEFVFPDTSDSLVLVGKVPLCFVEREANELRRGRSTVTKSIVEEFIREQLELLQTTG
                     GIQGTLPLTVQKVLASQACHGAIKFNDGLSLQESCRLIEALSSCQLPFQCAHGRPSMLP
                     LADIDHLEQEKQIKPNLTKLRKMAQAWRLFGKAECDTRQSLQQSMPPCEPP"
     misc_feature    2021..2101
                     /gene="MLH3"
                     /gene_synonym="HNPCC7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHC1.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2948..3031
                     /gene="MLH3"
                     /gene_synonym="HNPCC7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHC1.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4790..4795
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLH3"
                     /gene_synonym="HNPCC7"
                     /note="hexamer: GATAAA"
     polyA_site      4812
                     /gene="MLH3"
                     /gene_synonym="HNPCC7"
                     /note="major polyA site"
     regulatory      6650..6655
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLH3"
                     /gene_synonym="HNPCC7"
                     /note="hexamer: AATAAA"
     polyA_site      6670
                     /gene="MLH3"
                     /gene_synonym="HNPCC7"
     regulatory      7801..7806
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLH3"
                     /gene_synonym="HNPCC7"
                     /note="hexamer: AATAAA"
     polyA_site      7820
                     /gene="MLH3"
                     /gene_synonym="HNPCC7"
ORIGIN
        1 gtgggcacgc acgagcctca agatccaagg tgcgcgcgtc ggcgtccgag gcggttggtg
       61 tcggagaatt tgttaagcgg gactccaggc aattatttcc agtcagagaa ggaaaccagt
      121 gcctggcatt ctcaccatct ttctacctac catgatcaag tgcttgtcag ttgaagtaca
      181 agccaaattg cgttctggtt tggccataag ctccttgggc caatgtgttg aggaacttgc
      241 cctcaacagt attgatgctg aagcaaaatg tgtggctgtc agggtgaata tggaaacctt
      301 ccaagttcaa gtgatagaca atggatttgg gatggggagt gatgatgtag agaaagtggg
      361 aaatcgttat ttcaccagta aatgccactc ggtacaggac ttggagaatc caaggtttta
      421 tggtttccga ggagaggcct tggcaaatat tgctgacatg gccagtgctg tggaaatttc
      481 gtccaagaaa aacaggacaa tgaaaacttt tgtgaaactg tttcagagtg gaaaagccct
      541 gaaagcttgt gaagctgatg tgactagagc aagcgctggg actactgtaa cagtgtataa
      601 cctattttac cagcttcctg taaggaggaa atgcatggac cctagactgg agtttgagaa
      661 ggttaggcag agaatagaag ctctctcact catgcaccct tccatttctt tctctttgag
      721 aaatgatgtt tctggttcca tggttcttca gctccctaaa accaaagacg tatgttcccg
      781 attttgtcaa atttatggat tgggaaagtc ccaaaagcta agagaaataa gttttaaata
      841 taaagagttt gagcttagtg gctatatcag ctctgaagca cattacaaca agaatatgca
      901 gtttttgttt gtgaacaaaa gactagtttt aaggacaaag ctacataaac tcattgactt
      961 tttattaagg aaagaaagta ttatatgcaa gccaaagaat ggtcccacca gtaggcaaat
     1021 gaattcaagt cttcggcacc ggtctacccc agaactctat ggcatatatg taattaatgt
     1081 gcagtgccaa ttctgtgagt atgatgtgtg catggagcca gccaaaactc tgattgaatt
     1141 tcagaactgg gacactctct tgttttgcat tcaggaagga gtgaaaatgt ttttaaagca
     1201 agaaaaatta tttgtggaat tatcaggtga ggatattaag gaatttagtg aagataatgg
     1261 ttttagttta tttgatgcta ctcttcagaa gcgtgtgact tccgatgaga ggagcaattt
     1321 ccaggaagca tgtaataata ttttagattc ctatgagatg tttaatttgc agtcaaaagc
     1381 tgtgaaaaga aaaactactg cagaaaacgt aaacacacag agttctaggg attcagaagc
     1441 taccagaaaa aatacaaatg atgcattttt gtacatttat gaatcaggtg gtccaggcca
     1501 tagcaaaatg acagagccat ctttacaaaa caaagacagc tcttgctcag aatcaaagat
     1561 gttagaacaa gagacaattg tagcatcaga agctggagaa aatgagaaac ataaaaaatc
     1621 tttcctggaa catagctctt tagaaaatcc gtgtggaacc agtttagaaa tgtttttaag
     1681 cccttttcag acaccatgtc actttgagga gagtgggcag gatctagaaa tatggaaaga
     1741 aagtactact gttaatggca tggctgccaa catcttgaaa aataatagaa ttcagaatca
     1801 accaaagaga tttaaagatg ctactgaagt gggatgccag cctctgcctt ttgcaacaac
     1861 attatgggga gtacatagtg ctcagacaga gaaagagaaa aaaaaagaat ctagcaattg
     1921 tggaagaaga aatgttttta gttatgggcg agttaaatta tgttccactg gctttataac
     1981 tcatgtagta caaaatgaaa aaactaaatc aactgaaaca gaacattcat ttaaaaatta
     2041 tgttagacct ggtcccacac gtgcccaaga aacatttgga aatagaacac gtcattcagt
     2101 tgaaactcca gacatcaaag atttagccag cactttaagt aaagaatctg gtcaattgcc
     2161 caacaaaaaa aattgcagaa cgaatataag ttatgggcta gagaatgaac ctacagcaac
     2221 ttatacaatg ttttctgctt ttcaggaagg tagcaaaaaa tcacaaacag attgcatatt
     2281 atctgataca tccccctctt tcccctggta tagacacgtt tccaatgata gtaggaaaac
     2341 agataaatta attggtttct ccaaaccaat cgtccgtaag aagctaagct tgagttcaca
     2401 gctaggatct ttagagaagt ttaagaggca atatgggaag gttgaaaatc ctctggatac
     2461 agaagtagag gaaagtaatg gagtcactac caatctcagt cttcaagttg aacctgacat
     2521 tctgctgaag gacaagaacc gcttagagaa ctctgatgtt tgtaaaatca ctactatgga
     2581 gcatagtgat tcagatagta gttgtcaacc agcaagccac atccttaact cagagaagtt
     2641 tccattctcc aaggatgaag attgtttaga acaacagatg cctagtttga gagaaagtcc
     2701 tatgaccctg aaggagttat ctctctttaa tagaaaacct ttggaccttg agaagtcatc
     2761 tgaatcacta gcctctaaat tatccagact gaagggttcc gaaagagaaa ctcaaacaat
     2821 ggggatgatg agtcgtttta atgaacttcc aaattcagat tccagtagga aagacagcaa
     2881 gttgtgcagt gtgttaacac aagatttttg tatgttattt aacaacaagc atgaaaaaac
     2941 agagaatggt gtcatcccaa catcagattc tgccacacag gataattcct ttaataaaaa
     3001 tagtaaaaca cattctaaca gcaatacaac agagaactgt gtgatatcag aaactccttt
     3061 ggtattgccc tataataatt ctaaagttac cggtaaagat tcagatgttc ttatcagagc
     3121 ctcagaacaa cagataggaa gtcttgactc tcccagtgga atgttaatga atccggtaga
     3181 agatgccaca ggtgaccaaa atggaatttg ttttcagagt gaggaatcta aagcaagagc
     3241 ttgttctgaa actgaagagt caaacacgtg ttgttcagat tggcagcggc atttcgatgt
     3301 agccctggga agaatggttt atgtcaacaa aatgactgga ctcagcacat tcattgcccc
     3361 aactgaggac attcaggctg cttgtactaa agacctgaca actgtggctg tggatgttgt
     3421 acttgagaat gggtctcagt acaggtgtca accttttaga agcgaccttg ttcttccttt
     3481 ccttccgaga gctcgagcag agaggactgt gatgagacag gataacagag atactgtgga
     3541 tgatactgtt agtagcgaat cgcttcagtc tttgttctca gaatgggaca atccagtatt
     3601 tgcccgttat ccagaggttg ctgttgatgt aagcagtggc caggctgaga gcttagcagt
     3661 taaaattcac aacatcttgt atccctatcg tttcaccaaa ggaatgattc attcaatgca
     3721 ggttctccag caagtagata acaagtttat tgcctgtttg atgagcacta agactgaaga
     3781 gaatggcgag gcaggtggga acctgctcgt gctggtggat cagcacgctg cccatgagcg
     3841 tatacgtctg gagcagctta tcattgattc ctacgagaag caacaggcac aaggctctgg
     3901 tcggaaaaaa ttactgtctt ctactctaat tcctccgcta gagataacag tgacagagga
     3961 acaaaggaga ctcttatggt gttaccacaa aaatctggaa gatctgggcc ttgaatttgt
     4021 atttccagac actagtgatt ctctggtcct tgtgggaaaa gtaccactat gttttgtgga
     4081 aagagaagcc aatgaacttc ggagaggaag atctactgtg accaagagta ttgtggagga
     4141 atttatccga gaacaactgg agctactcca gaccaccgga ggcatccaag ggacattgcc
     4201 actgactgtc cagaaggtgt tggcatccca agcctgccat ggggccatta agtttaatga
     4261 tggcctgagc ttacaggaaa gttgccgcct tattgaagct ctgtcctcat gccagctgcc
     4321 attccagtgt gctcacggga gaccttctat gctgccgtta gctgacatag accacttgga
     4381 acaggaaaaa cagattaaac ccaacctcac taaacttcgc aaaatggccc aggcctggcg
     4441 tctctttgga aaagcagagt gtgatacaag gcagagcctg cagcaatcca tgcctccctg
     4501 tgagccacca tgagaacaga atcactggtc taaaaggaac aaagggatgt tcactgtatg
     4561 cctctgagca gagagcagca gcagcaggta ccagcacggc cctgactgaa tcagcccagt
     4621 gtccctgagc agcttagaca gcagggctct ctgtatcagt ctttcttgag cagatgattc
     4681 ccctagttga gtagccagat gaaattcaag cctaaagaca attcattcat ttgcatccat
     4741 gggcacagaa ggttgctata tagtatctac cttttgctac ttatttaatg ataaaattta
     4801 atgacagttt gattggttgc ttggtttgtt atttgaaggg tgtgattttt gtttttgtac
     4861 agtttttttt caagcttcac atttgcgtgt atctaattca gctgatgctc aagtccaagg
     4921 ggtagtctgc cttcccaggc tgcccccagg gtttctgcac tggtcccctc ttttcccttc
     4981 agtcttcttc acttccctat gctgctgctt catgtgctac atctcagact taaagagttt
     5041 ctctactaca gtgaaaacat tctctagggt ctttcatcag gcctttagtt attttaggga
     5101 taaaaactat tgataaaaag gacaaggata gaacagagaa aatttaaagt cctgttccgg
     5161 gttttttgtt atgttttctt taaaaactca gagactgatg ttcaatatcc caaaccagta
     5221 aaatggtgaa aatactatga gcttgttttt taaaatatga ttttttttgg tactttataa
     5281 agtatctctt tatgtgaaag caattgtcat atcaaaacac agcatacata cgttcaacct
     5341 aaccaaatat ctttacactt tttctttcag gagacaaggg ttctttgggt ccctttcaaa
     5401 cggtatcttg gtgttattac attatgccta tctattgccc ttataatatc acttgggacc
     5461 aggactgatc gttctgcaaa tgcttgttat gccattctca atctattttt cccgcacctt
     5521 ttcacatgat ttgtggttaa taggactcaa cagactaaaa ttgcatagta gaaaaaaaat
     5581 gcaaaaagcc agctggtaat gtttattgca actggggtgc tatacaatta gtaagatgat
     5641 gcaatgagaa tttctacttt tgtatttcct gaccagcctg ctcaaagtgg cttttatatc
     5701 aattgaatga ttttcctcat tttttaatac aggaaaccaa ttcgtgctca tggaagaaaa
     5761 gttcctttgc cagcagcctt gaagtgaatc ttacaggagc aatgaaagta ttgcattcat
     5821 tagcgtctgc cccagagaag gttcagagaa aaccttcact tgttttcaag gggatccttg
     5881 tagatttacg taattggaat cctgaagaac aggccctact gtctaaaaaa tggcttttat
     5941 tcttctaaat acatataaac ggatgtttta tagatgggaa gacatgacct tagaaaggag
     6001 agagttttca gaggatttgc caggctgtca ggggctctgc ctccaggccc agtgtggcag
     6061 tgtggcctca gggcctccgc ctccctgctt gagggctgca tggaggccaa ctgtcctggg
     6121 agttgtaaaa atcttttaag gccagaccaa tttgagggat tttaaaaagt gtctcagtgc
     6181 ctcttatgat ttcagaaggt tttgctatat gtaatcccaa ctactgtttt cttgagagta
     6241 gcagaggatt agaaaaagtc ctccataaat tatgtaaccg gccttcctga ctagcctgac
     6301 tcaagcaatg taagagataa ttattctgtt ttcataattt ataagtgtgg gggcatgcct
     6361 cagcataaaa acaacctatt agggaaaaat atctaataga ttacctttat cgcctgttag
     6421 ggttttatgt tgtttttaac tcagatgcca taagaacaaa gatacatgta atttataata
     6481 gtaatcatta atacctatat tgtgctttaa ggtttacaaa ataatttttc tcatacttta
     6541 tcttagttta gtttcttgac agtccatgag gtaaggtggt agctttatca ccattttaca
     6601 aagtgggaaa cgaaggttcc tcttaggaac ctagttgtca cctttgtata ataaaacttc
     6661 gaagctcgga gctgttaact ggtttgctga aggcttagct gtaagagcca gaattcagac
     6721 ccaggtctga gtgacttcaa actgcacagt ccttcccatt attacccata tgctatccct
     6781 tatattttta atttattagg aattcattca tttataaact tggtgattca cctttattag
     6841 attctggtcg ctgaaggctt tagtaacttc agagtaaaac ttgagagatg agatgtaaaa
     6901 tgcagccatt cttgagagtt cctttttctg taacattcat caacacttca ttgagaagtg
     6961 aaggttccta tggctgtctc taccttcaag aggcttagct ttagtcactg agaaagacaa
     7021 ggaaactaat gatagaatat agtagcttct tctggcgtta ggtatcacag agtcacagct
     7081 agttacagct agccctttat tattgaaaga agaggagcta gcagtcccac tatcagaatt
     7141 aagactagag atggtaatag gagctagtat cagaaaagct taaggcaaag cataaagtgt
     7201 aggctagaat gaagctggag aatggggagg gggcttgggt aacatccaga acctggctgg
     7261 ggacctggaa ctacatgaga tgtaagaatg gagaggttct agcagtcaga ggtcaggtac
     7321 aaatgaacag ctgggatctg cgcatggcag acagtgaaaa aacccaggca agcaaaatgg
     7381 tcagagcaga aaggggccca aggccacgtt cttgagatgt ggagggggct gaggaagcca
     7441 cgccaagtaa ggacagatgc agctcagcag ttcctagcga gccctgacaa gccagctcag
     7501 ctgaagcttc gggtgggagc cagtcatggc acagtggagt gaaggaagag cagtttcagg
     7561 cacccaaaac ctgaccccca cgacctgttt tccacctgaa gagccaccca ttccatccaa
     7621 acccttggca aaagtctgct aacagagaga accggccagt atgctggcca gtcgcgatca
     7681 tgcctgtctt taccctctaa gctgaagctg ctcatcaacg gtgagatggc aaaaaggtgg
     7741 gtccagaaga ggggaaaaga agggagtctg tgaaaacaaa atgctgaaga atctgcatca
     7801 aataaaccct tccttccttc
//
LOCUS       NM_001040113            6940 bp    mRNA    linear   PRI 15-MAY-2023
DEFINITION  Homo sapiens myosin heavy chain 11 (MYH11), transcript variant SM2B,
            mRNA.
ACCESSION   NM_001040113
VERSION     NM_001040113.2
KEYWORDS    RefSeq; MANE Plus Clinical.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6940)
  AUTHORS   Jiang Y, Chao HY, Lu XZ, Wu P and Sun XC.
  TITLE     [Molecular Genetic Characteristics of Acute Myeloid Leukemia
            Patients with CBFbeta-MYH11 Positive]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 30 (6), 1661-1667 (2022)
   PUBMED   36476886
  REMARK    GeneRIF: [Molecular Genetic Characteristics of Acute Myeloid
            Leukemia Patients with CBFbeta-MYH11 Positive].
REFERENCE   2  (bases 1 to 6940)
  AUTHORS   Zhao C, Wang S and Wang K.
  TITLE     Mutual exclusivity between the fusion gene CBFB::MYH11 and somatic
            mitochondrial mutations in acute myeloid leukaemia
  JOURNAL   Br J Haematol 199 (4), e25-e29 (2022)
   PUBMED   36039018
  REMARK    GeneRIF: Mutual exclusivity between the fusion gene CBFB::MYH11 and
            somatic mitochondrial mutations in acute myeloid leukaemia.
REFERENCE   3  (bases 1 to 6940)
  AUTHORS   Chang Y, Yuan Q, Jiang P, Sun L, Ma Y and Ma X.
  TITLE     Association of gene polymorphisms in MYH11 and TGF-beta signaling
            with the susceptibility and clinical outcomes of DeBakey type III
            aortic dissection
  JOURNAL   Mamm Genome 33 (3), 555-563 (2022)
   PUBMED   34729648
  REMARK    GeneRIF: Association of gene polymorphisms in MYH11 and TGF-beta
            signaling with the susceptibility and clinical outcomes of DeBakey
            type III aortic dissection.
REFERENCE   4  (bases 1 to 6940)
  AUTHORS   Reckzeh K, Estruch M, Ali M, Sogaard Helbo A, Mosbech A, Jae Won K,
            Rucker F, Dohner K and Theilgaard-Monch K.
  TITLE     TET2 deficiency cooperates with CBFB-MYH11 to induce acute myeloid
            leukaemia and represents an early leukaemogenic event
  JOURNAL   Br J Haematol 197 (2), 201-206 (2022)
   PUBMED   35128634
  REMARK    GeneRIF: TET2 deficiency cooperates with CBFB-MYH11 to induce acute
            myeloid leukaemia and represents an early leukaemogenic event.
REFERENCE   5  (bases 1 to 6940)
  AUTHORS   Chesneau B, Plancke A, Rolland G, Marcheix B, Dulac Y, Edouard T,
            Plaisancie J, Aubert-Mucca M, Julia S, Langeois M, Lavabre-Bertrand
            T and Khau Van Kien P.
  TITLE     A +3 variant at a donor splice site leads to a skipping of the MYH11
            exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic
            Aneurysm and Dissection and/or Patent Ductus Arteriosus
  JOURNAL   Mol Genet Genomic Med 9 (11), e1814 (2021)
   PUBMED   34672437
  REMARK    GeneRIF: A +3 variant at a donor splice site leads to a skipping of
            the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic
            Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
REFERENCE   6  (bases 1 to 6940)
  AUTHORS   Aikawa M, Sivam PN, Kuro-o M, Kimura K, Nakahara K, Takewaki S, Ueda
            M, Yamaguchi H, Yazaki Y, Periasamy M et al.
  TITLE     Human smooth muscle myosin heavy chain isoforms as molecular markers
            for vascular development and atherosclerosis
  JOURNAL   Circ Res 73 (6), 1000-1012 (1993)
   PUBMED   7916668
REFERENCE   7  (bases 1 to 6940)
  AUTHORS   van der Reijden BA, Dauwerse JG, Wessels JW, Beverstock GC,
            Hagemeijer A, van Ommen GJ and Breuning MH.
  TITLE     A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in
            acute nonlymphocytic leukemia M4Eo
  JOURNAL   Blood 82 (10), 2948-2952 (1993)
   PUBMED   8219185
REFERENCE   8  (bases 1 to 6940)
  AUTHORS   Deng Z, Liu P, Marlton P, Claxton DF, Lane S, Callen DF, Collins FS
            and Siciliano MJ.
  TITLE     Smooth muscle myosin heavy chain locus (MYH11) maps to
            16p13.13-p13.12 and establishes a new region of conserved synteny
            between human 16p and mouse 16
  JOURNAL   Genomics 18 (1), 156-159 (1993)
   PUBMED   8276405
REFERENCE   9  (bases 1 to 6940)
  AUTHORS   Matsuoka R, Yoshida MC, Furutani Y, Imamura S, Kanda N, Yanagisawa
            M, Masaki T and Takao A.
  TITLE     Human smooth muscle myosin heavy chain gene mapped to chromosomal
            region 16q12
  JOURNAL   Am J Med Genet 46 (1), 61-67 (1993)
   PUBMED   7684189
REFERENCE   10  (bases 1 to 6940)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301299
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY520817.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000452625.7/ ENSP00000407821.2
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX489788.1, AY520817.1,
            BC104906.1 and AA552189.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 10, 2019 this sequence version replaced NM_001040113.1.
            Summary: The protein encoded by this gene is a smooth muscle myosin
            belonging to the myosin heavy chain family. The gene product is a
            subunit of a hexameric protein that consists of two heavy chain
            subunits and two pairs of non-identical light chain subunits. It
            functions as a major contractile protein, converting chemical
            energy into mechanical energy through the hydrolysis of ATP. A
            chromosomal rearrangement involving this gene is associated with
            acute myeloid leukemia of the M4Eo subtype. Mutations in this gene
            are associated with visceral myopathy,
            megacystis-microcolon-intestinal hypoperistalsis syndrome 2, and
            familial thoracic aortic aneurysm 4. [provided by RefSeq, May
            2022].
            Transcript Variant: This variant (SM2B) represents the longer
            transcript. It encodes the isoform SM2B.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6940
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.11"
     gene            1..6940
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
                     /note="myosin heavy chain 11"
                     /db_xref="GeneID:4629"
                     /db_xref="HGNC:HGNC:7569"
                     /db_xref="MIM:160745"
     misc_feature    67..69
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
                     /note="upstream in-frame stop codon"
     CDS             106..5943
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
                     /note="isoform SM2B is encoded by transcript variant SM2B;
                     myosin, heavy polypeptide 11, smooth muscle; myosin, heavy
                     chain 11, smooth muscle; epididymis secretory sperm binding
                     protein"
                     /codon_start=1
                     /product="myosin-11 isoform SM2B"
                     /protein_id="NP_001035202.1"
                     /db_xref="CCDS:CCDS45424.1"
                     /db_xref="GeneID:4629"
                     /db_xref="HGNC:HGNC:7569"
                     /db_xref="MIM:160745"
                     /translation="MAQKGQLSDDEKFLFVDKNFINSPVAQADWAAKRLVWVPSEKQGF
                     EAASIKEEKGDEVVVELVENGKKVTVGKDDIQKMNPPKFSKVEDMAELTCLNEASVLHN
                     LRERYFSGLIYTYSGLFCVVVNPYKHLPIYSEKIVDMYKGKKRHEMPPHIYAIADTAYR
                     SMLQDREDQSILCTGESGAGKTENTKKVIQYLAVVASSHKGKKDTSITQGPSFAYGELE
                     KQLLQANPILEAFGNAKTVKNDNSSRFGKFIRINFDVTGYIVGANIETYLLEKSRAIRQ
                     ARDERTFHIFYYMIAGAKEKMRSDLLLEGFNNYTFLSNGFVPIPAAQDDEMFQETVEAM
                     AIMGFSEEEQLSILKVVSSVLQLGNIVFKKERNTDQASMPDNTAAQKVCHLMGINVTDF
                     TRSILTPRIKVGRDVVQKAQTKEQADFAVEALAKATYERLFRWILTRVNKALDKTHRQG
                     ASFLGILDIAGFEIFEVNSFEQLCINYTNEKLQQLFNHTMFILEQEEYQREGIEWNFID
                     FGLDLQPCIELIERPNNPPGVLALLDEECWFPKATDKSFVEKLCTEQGSHPKFQKPKQL
                     KDKTEFSIIHYAGKVDYNASAWLTKNMDPLNDNVTSLLNASSDKFVADLWKDVDRIVGL
                     DQMAKMTESSLPSASKTKKGMFRTVGQLYKEQLGKLMTTLRNTTPNFVRCIIPNHEKRS
                     GKLDAFLVLEQLRCNGVLEGIRICRQGFPNRIVFQEFRQRYEILAANAIPKGFMDGKQA
                     CILMIKALELDPNLYRIGQSKIFFRTGVLAHLEEERDLKITDVIMAFQAMCRGYLARKA
                     FAKRQQQLTAMKVIQRNCAAYLKLRNWQWWRLFTKVKPLLQVTRQEEEMQAKEDELQKT
                     KERQQKAENELKELEQKHSQLTEEKNLLQEQLQAETELYAEAEEMRVRLAAKKQELEEI
                     LHEMEARLEEEEDRGQQLQAERKKMAQQMLDLEEQLEEEEAARQKLQLEKVTAEAKIKK
                     LEDEILVMDDQNNKLSKERKLLEERISDLTTNLAEEEEKAKNLTKLKNKHESMISELEV
                     RLKKEEKSRQELEKLKRKLEGDASDFHEQIADLQAQIAELKMQLAKKEEELQAALARLD
                     DEIAQKNNALKKIRELEGHISDLQEDLDSERAARNKAEKQKRDLGEELEALKTELEDTL
                     DSTATQQELRAKREQEVTVLKKALDEETRSHEAQVQEMRQKHAQAVEELTEQLEQFKRA
                     KANLDKNKQTLEKENADLAGELRVLGQAKQEVEHKKKKLEAQVQELQSKCSDGERARAE
                     LNDKVHKLQNEVESVTGMLNEAEGKAIKLAKDVASLSSQLQDTQELLQEETRQKLNVST
                     KLRQLEEERNSLQDQLDEEMEAKQNLERHISTLNIQLSDSKKKLQDFASTVEALEEGKK
                     RFQKEIENLTQQYEEKAAAYDKLEKTKNRLQQELDDLVVDLDNQRQLVSNLEKKQRKFD
                     QLLAEEKNISSKYADERDRAEAEAREKETKALSLARALEEALEAKEELERTNKMLKAEM
                     EDLVSSKDDVGKNVHELEKSKRALETQMEEMKTQLEELEDELQATEDAKLRLEVNMQAL
                     KGQFERDLQARDEQNEEKRRQLQRQLHEYETELEDERKQRALAAAAKKKLEGDLKDLEL
                     QADSAIKGREEAIKQLRKLQAQMKDFQRELEDARASRDEIFATAKENEKKAKSLEADLM
                     QLQEDLAAAERARKQADLEKEELAEELASSLSGRNALQDEKRRLEARIAQLEEELEEEQ
                     GNMEAMSDRVRKATQQAEQLSNELATERSTAQKNESARQQLERQNKELRSKLHEMEGAV
                     KSKFKSTIAALEAKIAQLEEQVEQEAREKQAATKSLKQKDKKLKEILLQVEDERKMAEQ
                     YKEQAEKGNARVKQLKRQLEEAEEESQRINANRRKLQRELDEATESNEAMGREVNALKS
                     KLRGPPPQETSQ"
     misc_feature    127..129
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P35749.3); phosphorylation site"
     misc_feature    172..174
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P35749.3); phosphorylation site"
     misc_feature    223..225
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7Z406; propagated from
                     UniProtKB/Swiss-Prot (P35749.3); phosphorylation site"
     misc_feature    490..492
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
                     /note="N6,N6,N6-trimethyllysine. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P35749.3);
                     methylation site"
     misc_feature    2107..2175
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P35749.3);
                     Region: Actin-binding. /evidence=ECO:0000250"
     misc_feature    2410..2454
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P35749.3);
                     Region: Actin-binding. /evidence=ECO:0000250"
     misc_feature    2698..2772
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P35749.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3655..3657
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q7Z406; propagated from
                     UniProtKB/Swiss-Prot (P35749.3); phosphorylation site"
     misc_feature    5176..5178
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q63862; propagated from
                     UniProtKB/Swiss-Prot (P35749.3); phosphorylation site"
     misc_feature    5290..5292
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q63862; propagated from
                     UniProtKB/Swiss-Prot (P35749.3); phosphorylation site"
     misc_feature    5356..5526
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
                     /note="propagated from UniProtKB/Swiss-Prot (P35749.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     polyA_site      6126
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
     regulatory      6919..6924
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
                     /note="hexamer: AATAAA"
     polyA_site      6940
                     /gene="MYH11"
                     /gene_synonym="AAT4; FAA4; SMHC; SMMHC; SMMS-1; VSCM2"
                     /note="major polyA site"
ORIGIN
        1 gagatttgga cgctccggcc tgggaggtgc gtcagatccg agctcgccat ccagtttcct
       61 ctccactagt ccccccagtt ggagatctgg gaccaacaag gcaccatggc gcagaagggc
      121 caactcagtg acgatgagaa gttcctcttt gtggacaaaa acttcatcaa cagcccagtg
      181 gcccaggctg actgggccgc caagagactc gtctgggtcc cctcggagaa gcagggcttc
      241 gaggcagcca gcattaagga ggagaagggg gatgaggtgg ttgtggagct ggtggagaat
      301 ggcaagaagg tcacggttgg gaaagatgac atccagaaga tgaacccacc caagttctcc
      361 aaggtggagg acatggcgga gctgacgtgc ctcaacgaag cctccgtgct acacaacctg
      421 agggagcggt acttctcagg gctaatatat acgtactctg gcctcttctg cgtggtggtc
      481 aacccctata aacacctgcc catctactcg gagaagatcg tcgacatgta caagggcaag
      541 aagaggcacg agatgccgcc tcacatctac gccatcgcag acacggccta ccggagcatg
      601 cttcaagatc gggaggacca gtccattcta tgcacaggcg agtctggagc cgggaaaacc
      661 gaaaacacca agaaggtcat tcagtacctg gccgtggtgg cctcctccca caagggcaag
      721 aaagacacaa gtatcacgca aggcccatct tttgcctacg gagagctgga aaagcagctt
      781 ctacaagcaa acccgattct ggaggctttc ggcaacgcca aaacagtgaa gaacgacaac
      841 tcctcacgat tcggcaaatt catccgcatc aacttcgacg tcacgggtta catcgtggga
      901 gccaacattg agacctatct gctagaaaaa tcacgggcaa ttcgccaagc cagagacgag
      961 aggacattcc acatctttta ctacatgatt gctggagcca aggagaagat gagaagtgac
     1021 ttgcttttgg agggcttcaa caactacacc ttcctctcca atggctttgt gcccatccca
     1081 gcagcccagg atgatgagat gttccaggaa accgtggagg ccatggcaat catgggtttc
     1141 agcgaggagg agcagctatc catattgaag gtggtatcat cggtcctgca gcttggaaat
     1201 atcgtcttca agaaggaaag aaacacagac caggcgtcca tgccagataa cacagctgct
     1261 cagaaagttt gccacctcat gggaattaat gtgacagatt tcaccagatc catcctcact
     1321 cctcgtatca aggttgggcg agatgtggta cagaaagctc agacaaaaga acaggctgac
     1381 tttgctgtag aggctttggc caaggcaaca tatgagcgcc ttttccgctg gatactcacc
     1441 cgcgtgaaca aagccctgga caagacccat cggcaagggg cttccttcct ggggatcctg
     1501 gatatagctg gatttgagat ctttgaggtg aactccttcg agcagctgtg catcaactac
     1561 accaacgaga agctgcagca gctcttcaac cacaccatgt tcatcctgga gcaggaggag
     1621 taccagcgcg agggcatcga gtggaacttc atcgactttg ggctggacct acagccctgc
     1681 atcgagctca tcgagcgacc gaacaaccct ccaggtgtgc tggccctgct ggacgaggaa
     1741 tgctggttcc ccaaagccac ggacaagtct ttcgtggaga agctgtgcac ggagcagggc
     1801 agccacccca agttccagaa gcccaagcag ctcaaggaca agactgagtt ctccatcatc
     1861 cattatgctg ggaaggtgga ctataatgcg agtgcctggc tgaccaagaa tatggacccg
     1921 ctgaatgaca acgtgacttc cctgctcaat gcctcctccg acaagtttgt ggccgacctg
     1981 tggaaggacg tggaccgcat cgtgggcctg gaccagatgg ccaagatgac ggagagctcg
     2041 ctgcccagcg cctccaagac caagaagggc atgttccgca cagtggggca gctgtacaag
     2101 gagcagctgg gcaagctgat gaccacgcta cgcaacacca cgcccaactt cgtgcgctgc
     2161 atcatcccca accacgagaa gaggtccggc aagctggatg cgttcctggt gctggagcag
     2221 ctgcggtgca atggggtgct ggaaggcatt cgcatctgcc ggcagggctt ccccaaccgg
     2281 atcgtcttcc aggagttccg ccaacgctac gagatcctgg cggcgaatgc catccccaaa
     2341 ggcttcatgg acgggaagca ggcctgcatt ctcatgatca aagccctgga acttgacccc
     2401 aacttataca ggatagggca gagcaaaatc ttcttccgaa ctggcgtcct ggcccaccta
     2461 gaggaggagc gagatttgaa gatcaccgat gtcatcatgg ccttccaggc gatgtgtcgt
     2521 ggctacttgg ccagaaaggc ttttgccaag aggcagcagc agctgaccgc catgaaggtg
     2581 attcagagga actgcgccgc ctacctcaag ctgcggaact ggcagtggtg gaggcttttc
     2641 accaaagtga agccactgct gcaggtgaca cggcaggagg aggagatgca ggccaaggag
     2701 gatgaactgc agaagaccaa ggagcggcag cagaaggcag agaatgagct taaggagctg
     2761 gaacagaagc actcgcagct gaccgaggag aagaacctgc tacaggaaca gctgcaggca
     2821 gagacagagc tgtatgcaga ggctgaggag atgcgggtgc ggctggcggc caagaagcag
     2881 gagctggagg agatactgca tgagatggag gcccgcctgg aggaggagga agacaggggc
     2941 cagcagctac aggctgaaag gaagaagatg gcccagcaga tgctggacct tgaagaacag
     3001 ctggaggagg aggaagctgc caggcagaag ctgcaacttg agaaggtcac ggctgaggcc
     3061 aagatcaaga aactggagga tgagatcctg gtcatggatg atcagaacaa taaactatca
     3121 aaagaacgaa aactccttga ggagaggatt agtgacttaa cgacaaatct tgcagaagag
     3181 gaagaaaagg ccaagaatct taccaagctg aaaaacaagc atgaatctat gatttcagaa
     3241 ctggaagtgc ggctaaagaa ggaagagaag agccgacagg agctggagaa gctgaaacgg
     3301 aagctggagg gtgatgccag cgacttccac gagcagatcg ctgacctcca ggcgcagatc
     3361 gcagagctca agatgcagct ggccaagaag gaggaggagc tgcaggcggc cctggccagg
     3421 cttgacgatg aaatcgctca gaagaacaat gccctgaaga agatccggga gctggagggc
     3481 cacatctcag acctccagga ggacctggac tcagagcggg ccgccaggaa caaggctgaa
     3541 aagcagaagc gagacctcgg cgaggagctg gaggccctaa agacagagct ggaagacaca
     3601 ctggacagca cagccactca gcaggagctc agggccaaga gggagcagga ggtgacggtg
     3661 ctgaagaagg ccctggatga agagacgcgg tcccatgagg ctcaggtcca ggagatgagg
     3721 cagaaacacg cacaggcggt ggaggagctc acagagcagc ttgagcagtt caagagggcc
     3781 aaggcgaacc tagacaagaa taagcagacg ctggagaaag agaacgcaga cctggccggg
     3841 gagctgcggg tcctgggcca ggccaagcag gaggtggaac ataagaagaa gaagctggag
     3901 gcgcaggtgc aggagctgca gtccaagtgc agcgatgggg agcgggcccg ggcggagctc
     3961 aatgacaaag tccacaagct gcagaatgaa gttgagagcg tcacagggat gcttaacgag
     4021 gccgagggga aggccattaa gctggccaag gacgtggcgt ccctcagttc ccagctccag
     4081 gacacccagg agctgcttca agaagaaacc cggcagaagc tcaacgtgtc tacgaagctg
     4141 cgccagctgg aggaggagcg gaacagcctg caagaccagc tggacgagga gatggaggcc
     4201 aagcagaacc tggagcgcca catctccact ctcaacatcc agctctccga ctcgaagaag
     4261 aagctgcagg actttgccag caccgtggaa gctctggaag aggggaagaa gaggttccag
     4321 aaggagatcg agaacctcac ccagcagtac gaggagaagg cggccgctta tgataaactg
     4381 gaaaagacca agaacaggct tcagcaggag ctggacgacc tggttgttga tttggacaac
     4441 cagcggcaac tcgtgtccaa cctggaaaag aagcagagga aatttgatca gttgttagcc
     4501 gaggagaaaa acatctcttc caaatacgcg gatgagaggg acagagctga ggcagaagcc
     4561 agggagaagg aaaccaaggc cctgtccctg gctcgggccc ttgaagaggc cttggaagcc
     4621 aaagaggaac tcgagcggac caacaaaatg ctcaaagccg aaatggaaga cctggtcagc
     4681 tccaaggatg acgtgggcaa gaacgtccat gagctggaga agtccaagcg ggccctggag
     4741 acccagatgg aggagatgaa gacgcagctg gaagagctgg aggacgagct gcaagccacg
     4801 gaggacgcca aactgcggct ggaagtcaac atgcaggcgc tcaagggcca gttcgaaagg
     4861 gatctccaag cccgggacga gcagaatgag gagaagagga ggcaactgca gagacagctt
     4921 cacgagtatg agacggaact ggaagacgag cgaaagcaac gtgccctggc agctgcagca
     4981 aagaagaagc tggaagggga cctgaaagac ctggagcttc aggccgactc tgccatcaag
     5041 gggagggagg aagccatcaa gcagctacgc aaactgcagg ctcagatgaa ggactttcaa
     5101 agagagctgg aagatgcccg tgcctccaga gatgagatct ttgccacagc caaagagaat
     5161 gagaagaaag ccaagagctt ggaagcagac ctcatgcagc tacaagagga cctcgccgcc
     5221 gctgagaggg ctcgcaaaca agcggacctc gagaaggagg aactggcaga ggagctggcc
     5281 agtagcctgt cgggaaggaa cgcactccag gacgagaagc gccgcctgga ggcccggatc
     5341 gcccagctgg aggaggagct ggaggaggag cagggcaaca tggaggccat gagcgaccgg
     5401 gtccgcaaag ccacacagca ggccgagcag ctcagcaacg agctggccac agagcgcagc
     5461 acggcccaga agaatgagag tgcccggcag cagctcgagc ggcagaacaa ggagctccgg
     5521 agcaagctcc acgagatgga gggggccgtc aagtccaagt tcaagtccac catcgcggcg
     5581 ctggaggcca agattgcaca gctggaggag caggtcgagc aggaggccag agagaaacag
     5641 gcggccacca agtcgctgaa gcagaaagac aagaagctga aggaaatctt gctgcaggtg
     5701 gaggacgagc gcaagatggc cgagcagtac aaggagcagg cagagaaagg caatgccagg
     5761 gtcaagcagc tcaagaggca gctggaggag gcagaggagg agtcccagcg catcaacgcc
     5821 aaccgcagga agctgcagcg ggagctggat gaggccacgg agagcaacga ggccatgggc
     5881 cgcgaggtga acgcactcaa gagcaagctc agagggcccc ccccacagga aacttcgcag
     5941 tgatgcacca ggcgaggaaa cgagacctct ttcgttcctt ctagaaggtc tggaggacgt
     6001 agagttattg aaaatgcaga tggttctgag gaggaaacgg acactcgaga cgcagacttc
     6061 aatggaacca aggccagtga ataagcaact ttctacagtt ttgcaccacg gcaagaaaac
     6121 caaaaaccaa aacaaacaaa caaaaaaaac ccaacaacaa cccagaacaa agcaaaaccc
     6181 agcagactgt acttagcatt gtctaaatcc attctcaaat tccaaatatc acagacaccc
     6241 ctcacacaag gaatataaaa accaccaccc tccagcctgg gcaacgtagt aaaacctcat
     6301 ctatacaaga atttaaaaat aagctgggcg tggtggtaca cacctgtggt cccagctact
     6361 agggaggctg agccaggaag aacgctccag cccaggactt cgaggctgca atgagctata
     6421 attgcatcat tgcactccag cctgggcaac agagaccctg tctcaaccac caccaccacc
     6481 accaccccta ctacccctgt attcaaggta aaaattgaag tttgtatgat gtaagagatg
     6541 agaaaaaccc aacaggaaac acagacacat cctccagttc tatcaatgga ttgtgcagac
     6601 actgagtttt tagaaaaaca tatccacggt aaccggtccc tggcaattct gtttacatga
     6661 aatggggaga aagtcaccga aatgggtgcc gccggccccc actcccaatt cattccctaa
     6721 cctgcaaacc tttccaactt ctcacgtcag gcctttgaga attctttccc cctctcctgg
     6781 tttccacacc tcagacacgc acagttcacc aagtgccttc tgtagtcaca tgaattgaaa
     6841 aggagacgct gctcccacgg aggggagcag gaatgctgca ctgtttacac cctgactgtg
     6901 cttaaaaaca ctttcactaa taaatggtta taaatcacaa
//
LOCUS       NM_001040118            5156 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain
            1 (ARAP1), transcript variant 3, mRNA.
ACCESSION   NM_001040118
VERSION     NM_001040118.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5156)
  AUTHORS   Shao A, Lopez AJ, Chen J, Tham A, Javier S, Quiroz A, Frick S,
            Levine EM, Lloyd KCK, Leonard BC, Murphy CJ, Glaser TM and Moshiri
            A.
  TITLE     Arap1 loss causes retinal pigment epithelium phagocytic dysfunction
            and subsequent photoreceptor death
  JOURNAL   Dis Model Mech 15 (7) (2022)
   PUBMED   35758026
  REMARK    GeneRIF: Arap1 loss causes retinal pigment epithelium phagocytic
            dysfunction and subsequent photoreceptor death.
REFERENCE   2  (bases 1 to 5156)
  AUTHORS   Bailetti D, Sentinelli F, Prudente S, Cimini FA, Barchetta I, Totaro
            M, Di Costanzo A, Barbonetti A, Leonetti F, Cavallo MG and Baroni
            MG.
  TITLE     Deep Resequencing of 9 Candidate Genes Identifies a Role for ARAP1
            and IGF2BP2 in Modulating Insulin Secretion Adjusted for Insulin
            Resistance in Obese Southern Europeans
  JOURNAL   Int J Mol Sci 23 (3), 1221 (2022)
   PUBMED   35163144
  REMARK    GeneRIF: Deep Resequencing of 9 Candidate Genes Identifies a Role
            for ARAP1 and IGF2BP2 in Modulating Insulin Secretion Adjusted for
            Insulin Resistance in Obese Southern Europeans. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 5156)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   4  (bases 1 to 5156)
  AUTHORS   Li X, Ma TK, Wen S, Li LL, Xu L, Zhu XW, Zhang CX, Liu N, Wang X and
            Fan QL.
  TITLE     LncRNA ARAP1-AS2 promotes high glucose-induced human proximal
            tubular cell injury via persistent transactivation of the EGFR by
            interacting with ARAP1
  JOURNAL   J Cell Mol Med 24 (22), 12994-13009 (2020)
   PUBMED   32969198
  REMARK    GeneRIF: LncRNA ARAP1-AS2 promotes high glucose-induced human
            proximal tubular cell injury via persistent transactivation of the
            EGFR by interacting with ARAP1.
REFERENCE   5  (bases 1 to 5156)
  AUTHORS   Li Y, Shen K, Li C, Yang Y, Yang M, Tao W, He S, Shi L and Yao Y.
  TITLE     Identifying the association between single nucleotide polymorphisms
            in KCNQ1, ARAP1, and KCNJ11 and type 2 diabetes mellitus in a
            Chinese population
  JOURNAL   Int J Med Sci 17 (15), 2379-2386 (2020)
   PUBMED   32922204
  REMARK    GeneRIF: Identifying the association between single nucleotide
            polymorphisms in KCNQ1, ARAP1, and KCNJ11 and type 2 diabetes
            mellitus in a Chinese population. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5156)
  AUTHORS   Cuthbert EJ, Davis KK and Casanova JE.
  TITLE     Substrate specificities and activities of AZAP family Arf GAPs in
            vivo
  JOURNAL   Am J Physiol Cell Physiol 294 (1), C263-C270 (2008)
   PUBMED   18003747
  REMARK    GeneRIF: ARAP1 acts primarily on Arf6 in vivo.
REFERENCE   7  (bases 1 to 5156)
  AUTHORS   Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H,
            Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff
            S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksoz E, Droege A,
            Krobitsch S, Korn B, Birchmeier W, Lehrach H and Wanker EE.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
REFERENCE   8  (bases 1 to 5156)
  AUTHORS   Ahn J, Chung KS, Kim DU, Won M, Kim L, Kim KS, Nam M, Choi SJ, Kim
            HC, Yoon M, Chae SK and Hoe KL.
  TITLE     Systematic identification of hepatocellular proteins interacting
            with NS5A of the hepatitis C virus
  JOURNAL   J Biochem Mol Biol 37 (6), 741-748 (2004)
   PUBMED   15607035
REFERENCE   9  (bases 1 to 5156)
  AUTHORS   Miura K, Jacques KM, Stauffer S, Kubosaki A, Zhu K, Hirsch DS, Resau
            J, Zheng Y and Randazzo PA.
  TITLE     ARAP1: a point of convergence for Arf and Rho signaling
  JOURNAL   Mol Cell 9 (1), 109-119 (2002)
   PUBMED   11804590
REFERENCE   10  (bases 1 to 5156)
  AUTHORS   Krugmann S, Anderson KE, Ridley SH, Risso N, McGregor A, Coadwell J,
            Davidson K, Eguinoa A, Ellson CD, Lipp P, Manifava M, Ktistakis N,
            Painter G, Thuring JW, Cooper MA, Lim ZY, Holmes AB, Dove SK,
            Michell RH, Grewal A, Nazarian A, Erdjument-Bromage H, Tempst P,
            Stephens LR and Hawkins PT.
  TITLE     Identification of ARAP3, a novel PI3K effector regulating both Arf
            and Rho GTPases, by selective capture on phosphoinositide affinity
            matrices
  JOURNAL   Mol Cell 9 (1), 95-108 (2002)
   PUBMED   11804589
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY553630.1, SRR11853567.5885.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000393609.8/ ENSP00000377233.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003065.2, AY553630.1 and
            BC008315.1.
            On Aug 13, 2020 this sequence version replaced NM_001040118.2.
            Summary: The protein encoded by this gene contains SAM, ARF-GAP,
            RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology
            (PH) domains. In vitro, this protein displays RHO-GAP and
            phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP
            activity. The encoded protein associates with the Golgi, and the
            ARF-GAP activity mediates changes in the Golgi and the formation of
            filopodia. It is thought to regulate the cell-specific trafficking
            of a receptor protein involved in apoptosis. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Sep 2008].
            Transcript Variant: This variant (3) is the longest transcript and
            it encodes the longest protein (isoform c).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5156
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..5156
                     /gene="ARAP1"
                     /gene_synonym="CENTD2; cnt-d2"
                     /note="ArfGAP with RhoGAP domain, ankyrin repeat and PH
                     domain 1"
                     /db_xref="GeneID:116985"
                     /db_xref="HGNC:HGNC:16925"
                     /db_xref="MIM:606646"
     misc_feature    101..103
                     /gene="ARAP1"
                     /gene_synonym="CENTD2; cnt-d2"
                     /note="upstream in-frame stop codon"
     CDS             209..4561
                     /gene="ARAP1"
                     /gene_synonym="CENTD2; cnt-d2"
                     /note="isoform c is encoded by transcript variant 3;
                     ARF-GAP, RHO-GAP, ankyrin repeat, and pleckstrin homology
                     domains-containing protein 1; arf-GAP with Rho-GAP domain,
                     ANK repeat and PH domain-containing protein 1;
                     centaurin-delta-2"
                     /codon_start=1
                     /product="arf-GAP with Rho-GAP domain, ANK repeat and PH
                     domain-containing protein 1 isoform c"
                     /protein_id="NP_001035207.1"
                     /db_xref="CCDS:CCDS41687.1"
                     /db_xref="GeneID:116985"
                     /db_xref="HGNC:HGNC:16925"
                     /db_xref="MIM:606646"
                     /translation="MAEAGDAALSVAEWLRALHLEQYTGLFEQHGLVWATECQGLSDTR
                     LMDMGMLLPGHRRRILAGLLRAHTSPAPAPRPTPRPVPMKRHIFRSPPVPATPPEPLPT
                     TTEDEGLPAAPPIPPRRSCLPPTCFTTPSTAAPDPVLPPLPAKRHLAELSVPPVPPRTG
                     PPRLLVSLPTKEEESLLPSLSSPPQPQSEEPLSTLPQGPPQPPSPPPCPPEIPPKPVRL
                     FPEFDDSDYDEVPEEGPGAPARVMTKKEEPPPSRVPRAVRVASLLSEGEELSGDDQGDE
                     EEDDHAYEGVPNGGWHTSSLSLSLPSTIAAPHPMDGPPGGSTPVTPVIKAGWLDKNPPQ
                     GSYIYQKRWVRLDTDHLRYFDSNKDAYSKRFISVACISHVAAIGDQKFEVITNNRTFAF
                     RAESDVERKEWMQALQQAMAEQRARARLSSAYLLGVPGSEQPDRAGSLELRGFKNKLYV
                     AVVGDKVQLYKNLEEYHLGIGITFIDMSVGNVKEVDRRSFDLTTPYRIFSFSADSELEK
                     EQWLEAMQGAIAEALSTSEVAERIWAAAPNRFCADCGAPQPDWASINLCVVICKRCAGE
                     HRGLGAGVSKVRSLKMDRKVWTETLIELFLQLGNGAGNRFWAANVPPSEALQPSSSPST
                     RRCHLEAKYREGKYRRYHPLFGNQEELDKALCAAVTTTDLAETQALLGCGAGINCFSGD
                     PEAPTPLALAEQAGQTLQMEFLRNNRTTEVPRLDSMKPLEKHYSVVLPTVSHSGFLYKT
                     ASAGKLLQDRRAREEFSRRWCVLGDGVLSYFENERAVTPNGEIRASEIVCLAVPPPDTH
                     GFEHTFEVYTEGERLYLFGLESAEQAHEWVKCIAKAFVPPLAEDLLARDFERLGRLPYK
                     AGLSLQRAQEGWFSLSGSELRAVFPEGPCEEPLQLRKLQELSIQGDSENQVLVLVERRR
                     TLYIQGERRLDFMGWLGAIQKAAASMGDTLSEQQLGDSDIPVIVYRCVDYITQCGLTSE
                     GIYRKCGQTSKTQRLLESLRQDARSVHLKEGEQHVDDVSSALKRFLRDLPDGLFTRAQR
                     LTWLEASEIEDEEEKVSRYRELLVRLPPVNRATVKALISHLYCVQCFSDTNQMNVHNLA
                     IVFGPTLFQTDGQDYKAGRVVEDLINHYVVVFSVDEEELRKQREEITAIVKMRVAGTAS
                     GTQHAGDFICTVYLEEKKAETEQHIKVPASMTAEELTLEILDRRNVGIREKDYWTCFEV
                     NEREEAERPLHFAEKVLPILHGLGTDSHLVVKKHQAMEAMLLYLASRVGDTKHGMMKFR
                     EDRSLLGLGLPSGGFHDRYFILNSSCLRLYKEVRSQRPWSGAPETSHRPEKEWPIKSLK
                     VYLGVKKKLRPPTCWGFTVVHETEKHEKQQWYLCCDTQMELREWFATFLFVQHDGLVWP
                     SEPSRVSRAVPEVRLGSVSLIPLRGSENEMRRSVAAFTADPLSLLRNV"
     misc_feature    473..640
                     /gene="ARAP1"
                     /gene_synonym="CENTD2; cnt-d2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96P48.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    725..1114
                     /gene="ARAP1"
                     /gene_synonym="CENTD2; cnt-d2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96P48.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    893..895
                     /gene="ARAP1"
                     /gene_synonym="CENTD2; cnt-d2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96P48.3); phosphorylation site"
     misc_feature    1268..1270
                     /gene="ARAP1"
                     /gene_synonym="CENTD2; cnt-d2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q96P48.3); phosphorylation site"
     misc_feature    1490..1492
                     /gene="ARAP1"
                     /gene_synonym="CENTD2; cnt-d2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96P48.3); phosphorylation site"
     misc_feature    1499..1501
                     /gene="ARAP1"
                     /gene_synonym="CENTD2; cnt-d2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96P48.3); phosphorylation site"
     misc_feature    1718..1720
                     /gene="ARAP1"
                     /gene_synonym="CENTD2; cnt-d2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96P48.3); phosphorylation site"
     misc_feature    2420..2422
                     /gene="ARAP1"
                     /gene_synonym="CENTD2; cnt-d2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96P48.3); phosphorylation site"
     misc_feature    4490..4492
                     /gene="ARAP1"
                     /gene_synonym="CENTD2; cnt-d2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96P48.3); phosphorylation site"
     misc_feature    4511..4513
                     /gene="ARAP1"
                     /gene_synonym="CENTD2; cnt-d2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q96P48.3); phosphorylation site"
     regulatory      5133..5138
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARAP1"
                     /gene_synonym="CENTD2; cnt-d2"
                     /note="hexamer: AATATA"
     polyA_site      5156
                     /gene="ARAP1"
                     /gene_synonym="CENTD2; cnt-d2"
                     /note="major polyA site"
ORIGIN
        1 gctgcaattt ggcggtggcg gtgtaagtcg gtggcggcgc cggtacgcct ggtccccgcg
       61 tggagtcttt actcaaaaca gctcccgcct caggccgaga tgaggagccc ttcagaatag
      121 ctgctgtctc tgggaggacc cgggcgtcct tggcagccca gctgctctgg acaaagccct
      181 gccagtcagg cctccgctgg caggaaccat ggcagaggct ggggatgctg cgctatcggt
      241 ggccgagtgg ctgcgggcat tgcacctgga gcagtacacg gggctctttg agcagcatgg
      301 cctggtgtgg gccactgagt gccaaggcct cagcgacacc cgcctgatgg acatgggcat
      361 gctactccct ggtcaccgcc gccgcatcct ggctggcctg ctccgtgccc atacctcacc
      421 ggcccctgca ccccgcccca ccccacggcc tgtgcccatg aagcgccaca tcttccgctc
      481 accacctgtg cctgccactc cacccgagcc gctgcccacc actacagagg atgaggggct
      541 ccccgctgcc ccacccatcc cgccccggag gagctgcctt ccgcccacct gcttcaccac
      601 cccatccaca gctgccccag accctgtgct gcccccgctg cctgctaagc ggcatttggc
      661 agagctgagc gttccacccg tgccgccccg caccggaccc ccccgcctgc tggtgagcct
      721 gcccactaag gaggaggagt cattgctgcc atcattatca tcccctcccc agccacagtc
      781 tgaggagccc ctgtccaccc tcccccaggg gcctccccag cctccctctc cacctccctg
      841 ccccccggag atacctccaa agccggtacg cctgttccca gagttcgatg actctgacta
      901 cgatgaggtc ccagaggagg ggccgggggc cccagccaga gtgatgacca agaaggagga
      961 gcccccaccg agccgagtcc cacgggccgt gcgcgtggcc agtctgctga gcgagggaga
     1021 ggaactgtct ggggacgacc aaggggatga ggaagaggat gaccacgcct atgagggcgt
     1081 ccccaatggc ggatggcata ccagcagcct gagcttgtcc ttgcccagca caatagctgc
     1141 gccacacccc atggacgggc cgcctggggg ctccaccccc gtcacaccag tcatcaaggc
     1201 tggctggctg gacaagaacc caccgcaggg atcttacatc tatcagaaac gatgggtgag
     1261 actggatact gatcacctgc gatactttga cagtaacaag gacgcttact ctaagcgctt
     1321 tatctctgtg gcctgcatct cccacgtggc tgccatcggg gaccagaagt ttgaagtgat
     1381 cacaaacaac cgaacctttg ccttccgggc agagagtgat gtggagcgga aggagtggat
     1441 gcaggccctg cagcaggcca tggctgagca gcgtgcccgg gcccggctct ctagcgctta
     1501 tctgctggga gttccaggct cagagcagcc tgaccgcgct ggcagcctgg agcttcgtgg
     1561 cttcaagaat aagctgtacg tggccgtggt cggggacaaa gtgcagctct acaagaatct
     1621 agaggagtac cacctgggca ttggcatcac cttcatcgac atgagcgtgg gcaacgtgaa
     1681 ggaagtggac cggcgcagct tcgacctcac cacgccctac cgcatcttca gcttctctgc
     1741 tgactcagag ctagagaagg agcagtggtt ggaggccatg cagggagcca tcgctgaggc
     1801 cctgtctacc tcggaggtgg ccgagcgcat ctgggctgca gcccccaaca ggttctgtgc
     1861 tgactgcggg gctcctcagc ctgactgggc ctccatcaac ctctgtgttg ttatctgcaa
     1921 gcgctgtgca ggggagcacc gtggcctggg cgctggcgtc tccaaggtgc ggagcctgaa
     1981 gatggacagg aaggtgtgga cagaaacact tatcgagctc ttcttacagc tggggaatgg
     2041 cgctgggaac cgcttctggg cagccaacgt gccccccagt gaggccctgc agcccagcag
     2101 cagccccagc acccggcggt gccacctgga ggccaagtac cgtgagggca agtaccgccg
     2161 ctaccacccg ctctttggca accaggagga gctggacaag gccctgtgtg ctgcagtcac
     2221 caccacagac ctggctgaga cccaggcgct cctgggctgt ggggctggga tcaactgctt
     2281 ctcgggggac cctgaggccc ccacgcccct ggctcttgca gagcaggcgg ggcagacgct
     2341 gcagatggaa ttccttcgga acaaccggac cacagaggtg cctcggctgg actcgatgaa
     2401 gcccctggaa aagcactact cagttgtcct gccgaccgtg agccacagtg gcttcctcta
     2461 caagactgcc tctgccggca agctgctaca ggaccgccgg gcccgggaag agttcagccg
     2521 gcgctggtgt gtccttggtg acggggtcct gagctacttt gagaatgagc gggcagtgac
     2581 ccccaatgga gagattcggg ccagcgagat tgtgtgcctg gcagtgcccc ctcctgacac
     2641 ccatggcttt gagcacacct ttgaggtgta cacggaggga gaacggctgt acctgtttgg
     2701 gctggagagt gcggagcagg ctcatgagtg ggtcaagtgt attgctaagg cattcgtgcc
     2761 tcccctagcc gaggatctgc tggcccggga ttttgagcgg ctgggacgcc taccctacaa
     2821 agctggcctg agcctacagc gggcccagga gggctggttc tctctcagtg gctcggagct
     2881 ccgtgctgtc ttcccggagg ggccctgcga agagccgctg caactacgga aactgcagga
     2941 gctttccatc cagggggaca gtgagaacca ggtgctggtg ctggtggagc gaaggaggac
     3001 actgtacata cagggcgagc ggcggctgga cttcatgggt tggctggggg ccatccagaa
     3061 agcagccgcc agcatggggg acacgctgtc ggagcagcag cttggggact cggatatccc
     3121 ggtgatcgtg taccgctgtg tggactacat cacgcagtgc ggcctgacct ccgagggcat
     3181 ctaccgcaag tgtgggcaga catcgaagac acagcggctg ctggagagcc tgcggcagga
     3241 tgcgcgctct gtgcacctca aggagggcga gcagcacgtg gatgatgttt cctcggcgct
     3301 caagcgcttc ctgcgcgacc tgcctgatgg gctcttcact cgcgcccagc gcctaacctg
     3361 gctggaggcc tcagagattg aggacgagga ggagaaggtc tccaggtacc gagagctgct
     3421 ggtgcggctg ccccctgtca accgggccac agtgaaggcc cttatcagcc acctgtactg
     3481 tgttcagtgc ttctcagaca cgaaccagat gaacgtgcac aacctggcaa ttgtgtttgg
     3541 gcccacgctc ttccagacag atgggcagga ctacaaggct ggccgtgtgg tggaagacct
     3601 cattaaccac tatgtggtgg tgtttagtgt ggatgaggaa gagctcagga agcagcggga
     3661 ggagatcact gccattgtga agatgcgcgt ggctggcact gccagtggga cccagcatgc
     3721 cggtgacttc atctgcacag tgtatctgga agagaagaag gcagagactg agcagcatat
     3781 caaggtccca gcatccatga ctgctgagga gctcaccctg gagatcctgg atcgccggaa
     3841 cgtgggcatc agggagaagg actattggac ctgctttgag gtcaacgaga gggaggaggc
     3901 agagcgcccc ctgcactttg cggagaaggt gctgcccatc ctgcacgggc tgggcacgga
     3961 cagccacctg gtggtgaaga agcaccaggc catggaggcc atgctgctgt acctggccag
     4021 ccgtgtcggt gacaccaagc atggcatgat gaagttccgt gaggaccgca gcctcctggg
     4081 cctgggcctg ccctcaggtg gcttccacga tcgctacttc atcctcaaca gcagctgctt
     4141 gcggctctac aaggaggtcc ggagccagag gccgtggagc ggggcccctg agaccagtca
     4201 ccggcctgag aaggagtggc ctattaagag tctcaaagtc tacctgggag tgaagaagaa
     4261 actcaggcca cccacctgct ggggcttcac agtggtgcat gagacagaga aacatgagaa
     4321 gcagcagtgg tacctctgct gtgacacaca gatggagctc cgggagtggt tcgctacctt
     4381 tctgtttgtg cagcatgacg gcctggtgtg gccctcagag ccctcacgcg tgtcccgggc
     4441 agtgcctgag gtccggctgg gtagtgtgtc actgatcccc cttcgaggta gtgaaaatga
     4501 aatgcgccgg agtgtggctg ccttcaccgc ggaccctctg tctcttctgc gcaacgtctg
     4561 agcacaggag cccatccttg gctctaggat tccgccgctg gaagccttct gttcagacac
     4621 cccttatgct ccaaggcctg atgtgagcca gcggggggtg catgggaaac tgcaccccac
     4681 aacccacatc ctccatcctg actgcagcat ggggttcccc ggcaggggtg ggaggcagca
     4741 ggggtcagcc tgggcaggaa cctctcccaa ctctgtccag gtgttcagac ctcttggccc
     4801 aacctgctca ccccaccggg ttcactgtcc ttgtggggct ggagagatgg gcataagtca
     4861 ggaacttggg aggaccacca ccctttcaga ggcgtgaggc cctggggccc tgccggaagg
     4921 gagccccctg ctcctcccaa caaactccag aacagcagaa agcgggtgct gtagaggagc
     4981 actcagctca cggggaggga gctcttggct gagcttctac agggctgaga gctgcgcttt
     5041 ggggacttca gccttccttc cagtctgggc tgagtggggg gtccagacta cctgatgccc
     5101 cttccccaat ttggggactt tttgataata taaatatatc tgtatatttt acccta
//
LOCUS       NM_001040125            2175 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens solute carrier family 66 member 1 (SLC66A1), transcript
            variant 1, mRNA.
ACCESSION   NM_001040125
VERSION     NM_001040125.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2175)
  AUTHORS   Talaia G, Amick J and Ferguson SM.
  TITLE     Receptor-like role for PQLC2 amino acid transporter in the lysosomal
            sensing of cationic amino acids
  JOURNAL   Proc Natl Acad Sci U S A 118 (8) (2021)
   PUBMED   33597295
  REMARK    GeneRIF: Receptor-like role for PQLC2 amino acid transporter in the
            lysosomal sensing of cationic amino acids.
REFERENCE   2  (bases 1 to 2175)
  AUTHORS   Jeung YJ, Lee K, Lee HJ, Kim E, Son MJ, Ahn J, Kim HG, Kim W, Lee
            HJ, Kim JM and Chung KS.
  TITLE     Cationic amino acid transporter PQLC2 is a potential therapeutic
            target in gastric cancer
  JOURNAL   Cancer Sci 110 (4), 1453-1463 (2019)
   PUBMED   30729615
  REMARK    GeneRIF: knockdown caused growth arrest and cell death of cancer
            cells and suppressed tumor growth in a mouse xenograft model. These
            results suggest that targeting PQLC2 is an effective strategy for GC
            treatment.
REFERENCE   3  (bases 1 to 2175)
  AUTHORS   Jezegou A, Llinares E, Anne C, Kieffer-Jaquinod S, O'Regan S,
            Aupetit J, Chabli A, Sagne C, Debacker C, Chadefaux-Vekemans B,
            Journet A, Andre B and Gasnier B.
  TITLE     Heptahelical protein PQLC2 is a lysosomal cationic amino acid
            exporter underlying the action of cysteamine in cystinosis therapy
  JOURNAL   Proc Natl Acad Sci U S A 109 (50), E3434-E3443 (2012)
   PUBMED   23169667
  REMARK    GeneRIF: PQLC2 and Ypq1-3 proteins are lysosomal/vacuolar exporters
            of CAAs and suggest that small-molecule transport is a conserved
            feature of the PQ-loop protein family Erratum:[Proc Natl Acad Sci U
            S A. 2013 Feb 19;110(8):3197]
REFERENCE   4  (bases 1 to 2175)
  AUTHORS   Liu B, Du H, Rutkowski R, Gartner A and Wang X.
  TITLE     LAAT-1 is the lysosomal lysine/arginine transporter that maintains
            amino acid homeostasis
  JOURNAL   Science 337 (6092), 351-354 (2012)
   PUBMED   22822152
REFERENCE   5  (bases 1 to 2175)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.637472.1, AK125580.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375153.8/ ENSP00000364295.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA202894.1, DA560373.1, AK125580.1 and BC015324.1.
            On Nov 22, 2018 this sequence version replaced NM_001040125.1.
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2175
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     gene            1..2175
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="solute carrier family 66 member 1"
                     /db_xref="GeneID:54896"
                     /db_xref="HGNC:HGNC:26001"
                     /db_xref="MIM:614760"
     CDS             643..1518
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     PQ-loop repeat-containing protein 2; lysosomal amino acid
                     transporter 1 homolog; PQ loop repeat containing 2"
                     /codon_start=1
                     /product="lysosomal amino acid transporter 1 homolog
                     isoform 1"
                     /protein_id="NP_001035214.1"
                     /db_xref="CCDS:CCDS195.2"
                     /db_xref="GeneID:54896"
                     /db_xref="HGNC:HGNC:26001"
                     /db_xref="MIM:614760"
                     /translation="MVWKKLGSRNFSSCPSGSIQWIWDVLGECAQDGWDEASVGLGLIS
                     ILCFAASTFPQFIKAYKTGNMDQALSLWFLLGWIGGDSCNLIGSFLADQLPLQTYTAVY
                     YVLADLVMLTLYFYYKFRTRPSLLSAPINSVLLFLMGMACATPLLSAAGPVAAPREAFR
                     GRALLSVESGSKPFTRQEVIGFVIGSISSVLYLLSRLPQIRTNFLRKSTQGISYSLFAL
                     VMLGNTLYGLSVLLKNPEEGQSEGSYLLHHLPWLVGSLGVLLLDTIISIQFLVYRRSTA
                     ASELEPLLPS"
     misc_feature    670..672
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6ZP29.1); glycosylation site"
     misc_feature    754..816
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZP29.1);
                     transmembrane region"
     misc_feature    856..918
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZP29.1);
                     transmembrane region"
     misc_feature    937..999
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZP29.1);
                     transmembrane region"
     misc_feature    1045..1107
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZP29.1);
                     transmembrane region"
     misc_feature    1189..1251
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZP29.1);
                     transmembrane region"
     misc_feature    1285..1347
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZP29.1);
                     transmembrane region"
     misc_feature    1405..1467
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZP29.1);
                     transmembrane region"
     misc_feature    1504..1509
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZP29.1);
                     Region: Di-leucine motif"
     regulatory      2137..2142
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="hexamer: AATAAA"
     polyA_site      2175
                     /gene="SLC66A1"
                     /gene_synonym="LAAT-1; LAAT1; PQLC2"
                     /note="major polyA site"
ORIGIN
        1 agaagctggg ccctggcggc ggatctggac gtggtgagcc ggaccggggg caggtggcaa
       61 acttcacggc tgggggtcgg ggctcctggg cttccctgcc acatccttcc agccctctcc
      121 tccggccgct ggactgtccc ggctcctgcg ccctccttgt ggcgcgatat cgtgggacga
      181 ggctccgggc cgggactggg tggccctcgg gaatccgcag ccagtggccc cccacctcaa
      241 aggcgaccag cgcggcctct cgagctggcc tggccaggag ttgccctgcc ccggccgacc
      301 ggccccttgg catctgatgg cttcgttttt cccgggccgg ccgggcgagg ggccctcgcg
      361 gcgctggccc cagcagctgt cctatcatta tccctccaaa caggcggccc gcgccgggct
      421 gagtcaccag gagggagctg tggccgagga cgccgaggcc tggagtgggt ggtagccccg
      481 agctgggacg ctcctccctc cacaatctcc ccaggtctgc agggaccgag ggcctacact
      541 gcctcctccc acgccgtgct taggaaccct tgctggcctc agaacaccag cgccctccct
      601 ccggtgcagc cctgcctggc cgggggcccc tcctccacag ccatggtctg gaagaaactg
      661 ggctcccgca acttctccag ctgccccagt ggctccatcc agtggatatg ggatgtgttg
      721 ggtgaatgtg cccaggacgg ctgggacgag gccagcgtgg gcctgggctt gatctccatt
      781 ctctgctttg ctgcatctac cttcccccag ttcatcaaag cctacaagac gggcaacatg
      841 gaccaggcgc tgtccctgtg gttcctcctg ggctggattg gcggagactc ctgcaacctc
      901 atcggctcct tccttgctga ccagctgccc ctgcagacct acacggctgt gtattatgtc
      961 ttggcagacc tggtgatgct gacgctgtac ttttactaca agttcaggac gcgcccctct
     1021 ctgttgtctg cccccatcaa ctccgtgctg ttgttcctca tggggatggc gtgcgccaca
     1081 ccgctgctga gtgctgctgg gcccgtggct gcccctaggg aagccttccg ggggcgggcg
     1141 ctcctgtccg tggagtcggg cagcaagccc ttcacccggc aggaagtcat tggcttcgtc
     1201 atcggctcca tctccagcgt gttgtacctg ctttcccggc tgcctcagat ccgcaccaac
     1261 ttcctccgga agtccaccca ggggatctcc tactctctgt tcgcgctggt gatgctgggg
     1321 aacacgctgt atgggctgag cgtgctgctc aaaaaccccg aggagggcca gagcgagggc
     1381 agctacctgc tgcaccacct gccctggctt gtgggcagcc tgggcgtgct gctgctcgac
     1441 accatcatct ccatccagtt cctggtgtac aggcgcagca ccgccgcctc ggagcttgag
     1501 cccctcctcc ccagctgacc agaaccaggc tgagcgcagg aggacaggca ccaccggatg
     1561 ccacaccagg caggaggagg tgtggacagt gatggtacgg cggccctgca tcagcctgcg
     1621 ggtggcctct ggatcctccg tggaccgaac cgtcccccca ggaacacacc ttcaggtaga
     1681 ccccgaagcc tcaaggccgg ggctggagcg gagaccccag ggcctctcag gagacagtga
     1741 ggctgcccct cctaccacct acctcattct gcctactcac cccaggggcc acagccacag
     1801 cctgctggac tcaggactgt cctgtcaact ccagacaact gaataaacag gccgggtaca
     1861 gtggctcgca cctgtaatcc tagcactttg ggaggccgaa gcgggtggac cacttgacgt
     1921 ccgtagttcg agaccagcct ggccaacatg gtgaaacccc atctctacta aaaatacaaa
     1981 aattagccag gtgtggtggc acacatctgt agtcccagct acttgggagg ctgaggcagg
     2041 agaactgttt gaacctggga gacagaggtt gcggtgaacc gagatcgtgc cactgtactc
     2101 cagcctgggt gacagagtga gactccgtct caaaaaaata aaaaagataa ccgaggaaac
     2161 ggtacctccc catga
//
LOCUS       NM_001040129             620 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens serine peptidase inhibitor Kazal type 13 (SPINK13),
            transcript variant 1, mRNA.
ACCESSION   NM_001040129
VERSION     NM_001040129.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 620)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 620)
  AUTHORS   Xu WH, Shi SN, Wang J, Xu Y, Tian X, Wan FN, Cao DL, Qu YY, Zhang HL
            and Ye DW.
  TITLE     The Role of Serine Peptidase Inhibitor Kazal Type 13 (SPINK13) as a
            Clinicopathological and Prognostic Biomarker in Patients with Clear
            Cell Renal Cell Carcinoma
  JOURNAL   Med Sci Monit 25, 9458-9470 (2019)
   PUBMED   31825950
  REMARK    GeneRIF: Gene set enrichment analysis (GSEA) showed that SPINK13
            expression was involved in complement, apical junction,
            epithelial-mesenchymal transition (EMT), glycolysis, hypoxia, and
            inflammation signaling pathways. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 620)
  AUTHORS   Wei L, Lun Y, Zhou X, He S, Gao L, Liu Y, He Z, Li B and Wang C.
  TITLE     Novel urokinase-plasminogen activator inhibitor SPINK13 inhibits
            growth and metastasis of hepatocellular carcinoma in vivo
  JOURNAL   Pharmacol Res 143, 73-85 (2019)
   PUBMED   30862605
  REMARK    GeneRIF: The results of the study indicated that SPINK13 could
            function as a promising therapeutic approach for patients with
            advanced hepatocellular carcinoma.
REFERENCE   4  (bases 1 to 620)
  AUTHORS   Cai S, Zhang P, Dong S, Li L, Cai J and Xu M.
  TITLE     Downregulation of SPINK13 Promotes Metastasis by Regulating uPA in
            Ovarian Cancer Cells
  JOURNAL   Cell Physiol Biochem 45 (3), 1061-1071 (2018)
   PUBMED   29439245
  REMARK    GeneRIF: SPINK13 inhibited cell migration and epithelial to
            mesenchymal transition (EMT). SPINK13 was found to inhibit the
            expression of urokinase-type plasminogen activator (uPA), while
            recombinant uPA protein could reverse the inhibitory effect of
            SPINK13 on OC metastasis.
REFERENCE   5  (bases 1 to 620)
  AUTHORS   Ma L, Yu H, Ni Z, Hu S, Ma W, Chu C, Liu Q and Zhang Y.
  TITLE     Spink13, an epididymis-specific gene of the Kazal-type serine
            protease inhibitor (SPINK) family, is essential for the acrosomal
            integrity and male fertility
  JOURNAL   J Biol Chem 288 (14), 10154-10165 (2013)
   PUBMED   23430248
REFERENCE   6  (bases 1 to 620)
  AUTHORS   Li JY, Wang HY, Liu J, Liu Q, Zhang JS, Wan FC, Liu FJ, Jin SH and
            Zhang YL.
  TITLE     Transcriptome analysis of a cDNA library from adult human epididymis
  JOURNAL   DNA Res 15 (3), 115-122 (2008)
   PUBMED   18390568
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC128164.1, SRR14038193.719912.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148874,
            SAMEA2149178 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000398450.5/ ENSP00000381468.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011346.5 and BC128164.1.
            On Nov 23, 2018 this sequence version replaced NM_001040129.2.
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..620
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..620
                     /gene="SPINK13"
                     /gene_synonym="HBVDNAPTP1; HESPINTOR; LiESP6; SPINK5L3"
                     /note="serine peptidase inhibitor Kazal type 13"
                     /db_xref="GeneID:153218"
                     /db_xref="HGNC:HGNC:27200"
                     /db_xref="MIM:615205"
     misc_feature    120..122
                     /gene="SPINK13"
                     /gene_synonym="HBVDNAPTP1; HESPINTOR; LiESP6; SPINK5L3"
                     /note="upstream in-frame stop codon"
     CDS             129..413
                     /gene="SPINK13"
                     /gene_synonym="HBVDNAPTP1; HESPINTOR; LiESP6; SPINK5L3"
                     /note="hepatitis B virus DNA polymerase transactivated
                     human serine protease inhibitor; serine protease inhibitor
                     Kazal-type 5-like 3; serine protease inhibitor Kazal-type
                     13; hepatitis B virus DNA polymerase transactivated serine
                     protease inhibitor; Hepatitis B Virus (HBV) DNA polymerase
                     transactivated protein 1; serine peptidase inhibitor, Kazal
                     type 13 (putative)"
                     /codon_start=1
                     /product="serine protease inhibitor Kazal-type 13
                     precursor"
                     /protein_id="NP_001035218.1"
                     /db_xref="CCDS:CCDS43383.1"
                     /db_xref="GeneID:153218"
                     /db_xref="HGNC:HGNC:27200"
                     /db_xref="MIM:615205"
                     /translation="MAAFPHKIIFFLVCSTLTHVAFSGIFNKRDFTRWPKPRCKMYIPL
                     DPDYNADCPNVTAPVCASNGHTFQNECFFCVEQREFHYRIKFEKYGKCD"
     sig_peptide     129..197
                     /gene="SPINK13"
                     /gene_synonym="HBVDNAPTP1; HESPINTOR; LiESP6; SPINK5L3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    291..296
                     /gene="SPINK13"
                     /gene_synonym="HBVDNAPTP1; HESPINTOR; LiESP6; SPINK5L3"
                     /note="Reactive bond.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00798; propagated
                     from UniProtKB/Swiss-Prot (Q1W4C9.1); other site"
     misc_feature    291..293
                     /gene="SPINK13"
                     /gene_synonym="HBVDNAPTP1; HESPINTOR; LiESP6; SPINK5L3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q1W4C9.1); glycosylation site"
     regulatory      594..599
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPINK13"
                     /gene_synonym="HBVDNAPTP1; HESPINTOR; LiESP6; SPINK5L3"
                     /note="hexamer: AATAAA"
     polyA_site      620
                     /gene="SPINK13"
                     /gene_synonym="HBVDNAPTP1; HESPINTOR; LiESP6; SPINK5L3"
                     /note="major polyA site"
ORIGIN
        1 agttgtgaca gactcctgga acagcagctc ttctcaaggc tagttgtgac atccaaagtg
       61 acaagagcag gcccatattc agccacctca tccaggcctt atcaaagaag agtcttatat
      121 gagatcaaat ggctgccttt ccccacaaga ttatattttt cctggtatgc tctactttga
      181 cacatgtggc tttctcagga attttcaata aacgtgactt cactaggtgg cctaagcccc
      241 gatgtaaaat gtatatccca ctggaccctg attacaatgc agactgcccc aatgtgacag
      301 cacctgtttg tgcctcaaat ggccacactt tccagaatga gtgtttcttt tgtgttgaac
      361 agagggaatt tcattatcgt ataaaatttg aaaaatatgg aaaatgtgat taatgggtac
      421 cagagtaact acacttgctt attctttttc tacttaattc agaatagtat ttcttttaga
      481 gtgtgagaat gtaaattaaa taacatccct atgctgtact taaatgtcga acaaaatgag
      541 agacaaaaat gaaggaatca aactgacaag aaccaaatat cacatttgtt acaaataaac
      601 aacaaaagag ctgatattca
//
LOCUS       NM_001040142            8776 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens sodium voltage-gated channel alpha subunit 2 (SCN2A),
            transcript variant 2, mRNA.
ACCESSION   NM_001040142
VERSION     NM_001040142.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8776)
  AUTHORS   Thompson CH, Potet F, Abramova TV, DeKeyser JM, Ghabra NF, Vanoye
            CG, Millichap JJ and George AL.
  TITLE     Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and
            complex functional properties
  JOURNAL   J Gen Physiol 155 (10) (2023)
   PUBMED   37578743
  REMARK    GeneRIF: Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse
            and complex functional properties.
REFERENCE   2  (bases 1 to 8776)
  AUTHORS   Sterlini B, Franchi F, Morinelli L, Corradi B, Parodi C, Albini M,
            Bianchi A, Marte A, Baldelli P, Alberini G, Maragliano L, Valente P,
            Benfenati F and Corradi A.
  TITLE     Missense mutations in the membrane domain of PRRT2 affect its
            interaction with Nav1.2 voltage-gated sodium channels
  JOURNAL   Neurobiol Dis 183, 106177 (2023)
   PUBMED   37271286
  REMARK    GeneRIF: Missense mutations in the membrane domain of PRRT2 affect
            its interaction with Nav1.2 voltage-gated sodium channels.
REFERENCE   3  (bases 1 to 8776)
  AUTHORS   Asadollahi R, Delvendahl I, Muff R, Tan G, Rodriguez DG, Turan S,
            Russo M, Oneda B, Joset P, Boonsawat P, Masood R, Mocera M,
            Ivanovski I, Baumer A, Bachmann-Gagescu R, Schlapbach R, Rehrauer H,
            Steindl K, Begemann A, Reis A, Winkler J, Winner B, Muller M and
            Rauch A.
  TITLE     Pathogenic SCN2A variants cause early-stage dysfunction in
            patient-derived neurons
  JOURNAL   Hum Mol Genet 32 (13), 2192-2204 (2023)
   PUBMED   37010102
  REMARK    GeneRIF: Pathogenic SCN2A variants cause early-stage dysfunction in
            patient-derived neurons.
REFERENCE   4  (bases 1 to 8776)
  AUTHORS   Valente P, Marte A, Franchi F, Sterlini B, Casagrande S, Corradi A,
            Baldelli P and Benfenati F.
  TITLE     A Push-Pull Mechanism Between PRRT2 and beta4-subunit Differentially
            Regulates Membrane Exposure and Biophysical Properties of NaV1.2
            Sodium Channels
  JOURNAL   Mol Neurobiol 60 (3), 1281-1296 (2023)
   PUBMED   36441479
  REMARK    GeneRIF: A Push-Pull Mechanism Between PRRT2 and beta4-subunit
            Differentially Regulates Membrane Exposure and Biophysical
            Properties of NaV1.2 Sodium Channels.
REFERENCE   5  (bases 1 to 8776)
  AUTHORS   Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey
            AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker
            MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M,
            Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM,
            Sestan N, Lifton RP, Gunel M, Roeder K, Geschwind DH, Devlin B and
            State MW.
  TITLE     De novo mutations revealed by whole-exome sequencing are strongly
            associated with autism
  JOURNAL   Nature 485 (7397), 237-241 (2012)
   PUBMED   22495306
  REMARK    GeneRIF: association of the gene SCN2A, previously identified in
            epilepsy syndromes, with the risk of autism Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 8776)
  AUTHORS   Martin MS, Tang B, Ta N and Escayg A.
  TITLE     Characterization of 5' untranslated regions of the voltage-gated
            sodium channels SCN1A, SCN2A, and SCN3A and identification of
            cis-conserved noncoding sequences
  JOURNAL   Genomics 90 (2), 225-235 (2007)
   PUBMED   17544618
  REMARK    GeneRIF: Characterization of 5' untranslated regions SCN2A, and
            identification of cis-conserved noncoding sequences
REFERENCE   7  (bases 1 to 8776)
  AUTHORS   Ahmed CM, Ware DH, Lee SC, Patten CD, Ferrer-Montiel AV, Schinder
            AF, McPherson JD, Wagner-McPherson CB, Wasmuth JJ, Evans GA et al.
  TITLE     Primary structure, chromosomal localization, and functional
            expression of a voltage-gated sodium channel from human brain
  JOURNAL   Proc Natl Acad Sci U S A 89 (17), 8220-8224 (1992)
   PUBMED   1325650
REFERENCE   8  (bases 1 to 8776)
  AUTHORS   Lu CM, Han J, Rado TA and Brown GB.
  TITLE     Differential expression of two sodium channel subtypes in human
            brain
  JOURNAL   FEBS Lett 303 (1), 53-58 (1992)
   PUBMED   1317301
REFERENCE   9  (bases 1 to 8776)
  AUTHORS   Han JA, Lu CM, Brown GB and Rado TA.
  TITLE     Direct amplification of a single dissected chromosomal segment by
            polymerase chain reaction: a human brain sodium channel gene is on
            chromosome 2q22-q23
  JOURNAL   Proc Natl Acad Sci U S A 88 (2), 335-339 (1991)
   PUBMED   1846440
REFERENCE   10  (bases 1 to 8776)
  AUTHORS   Litt M, Luty J, Kwak M, Allen L, Magenis RE and Mandel G.
  TITLE     Localization of a human brain sodium channel gene (SCN2A) to
            chromosome 2
  JOURNAL   Genomics 5 (2), 204-208 (1989)
   PUBMED   2571571
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.92030.1,
            SRR1660809.188485.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375437.7/ ENSP00000364586.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP199510.1, M94055.1,
            BP311214.1, DA232976.1, AC011303.9 and BU729783.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001040142.1.
            Summary: Voltage-gated sodium channels are transmembrane
            glycoprotein complexes composed of a large alpha subunit with four
            repeat domains, each of which is composed of six membrane-spanning
            segments, and one or more regulatory beta subunits. Voltage-gated
            sodium channels function in the generation and propagation of
            action potentials in neurons and muscle. This gene encodes one
            member of the sodium channel alpha subunit gene family. Allelic
            variants of this gene are associated with seizure disorders and
            autism spectrum disorder. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Nov 2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8776
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.3"
     gene            1..8776
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="sodium voltage-gated channel alpha subunit 2"
                     /db_xref="GeneID:6326"
                     /db_xref="HGNC:HGNC:10588"
                     /db_xref="MIM:182390"
     misc_feature    255..257
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="upstream in-frame stop codon"
     CDS             279..6296
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="isoform 1 is encoded by transcript variant 2; sodium
                     channel, voltage-gated, type II, alpha 2 polypeptide;
                     sodium channel, voltage-gated, type II, alpha 1
                     polypeptide; sodium channel protein, brain type 2 alpha
                     subunit; voltage-gated sodium channel subtype II; sodium
                     channel protein type II subunit alpha; sodium channel
                     protein brain II subunit alpha; voltage-gated sodium
                     channel subunit alpha Nav1.2; sodium channel,
                     voltage-gated, type II, alpha subunit; voltage-gated sodium
                     channel type II alpha subunit"
                     /codon_start=1
                     /product="sodium channel protein type 2 subunit alpha
                     isoform 1"
                     /protein_id="NP_001035232.1"
                     /db_xref="CCDS:CCDS33314.1"
                     /db_xref="GeneID:6326"
                     /db_xref="HGNC:HGNC:10588"
                     /db_xref="MIM:182390"
                     /translation="MAQSVLVPPGPDSFRFFTRESLAAIEQRIAEEKAKRPKQERKDED
                     DENGPKPNSDLEAGKSLPFIYGDIPPEMVSVPLEDLDPYYINKKTFIVLNKGKAISRFS
                     ATPALYILTPFNPIRKLAIKILVHSLFNMLIMCTILTNCVFMTMSNPPDWTKNVEYTFT
                     GIYTFESLIKILARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVL
                     RALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCLQW
                     PPDNSSFEINITSFFNNSLDGNGTTFNRTVSIFNWDEYIEDKSHFYFLEGQNDALLCGN
                     SSDAGQCPEGYICVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGK
                     TYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQE
                     EAQAAAAAASAESRDFSGAGGIGVFSESSSVASKLSSKSEKELKNRRKKKKQKEQSGEE
                     EKNDRVRKSESEDSIRRKGFRFSLEGSRLTYEKRFSSPHQSLLSIRGSLFSPRRNSRAS
                     LFSFRGRAKDIGSENDFADDEHSTFEDNDSRRDSLFVPHRHGERRHSNVSQASRASRVL
                     PILPMNGKMHSAVDCNGVVSLVGGPSTLTSAGQLLPEGTTTETEIRKRRSSSYHVSMDL
                     LEDPTSRQRAMSIASILTNTMEELEESRQKCPPCWYKFANMCLIWDCCKPWLKVKHLVN
                     LVVMDPFVDLAITICIVLNTLFMAMEHYPMTEQFSSVLSVGNLVFTGIFTAEMFLKIIA
                     MDPYYYFQEGWNIFDGFIVSLSLMELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLI
                     KIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKISNDCELPRWHMHDFFH
                     SFLIVFRVLCGEWIETMWDCMEVAGQTMCLTVFMMVMVIGNLVVLNLFLALLLSSFSSD
                     NLAATDDDNEMNNLQIAVGRMQKGIDFVKRKIREFIQKAFVRKQKALDEIKPLEDLNNK
                     KDSCISNHTTIEIGKDLNYLKDGNGTTSGIGSSVEKYVVDESDYMSFINNPSLTVTVPI
                     AVGESDFENLNTEEFSSESDMEESKEKLNATSSSEGSTVDIGAPAEGEQPEVEPEESLE
                     PEACFTEDCVRKFKCCQISIEEGKGKLWWNLRKTCYKIVEHNWFETFIVFMILLSSGAL
                     AFEDIYIEQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGFQVYFTNAWCWLDFLIVDV
                     SLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLV
                     CLIFWLIFSIMGVNLFAGKFYHCINYTTGEMFDVSVVNNYSECKALIESNQTARWKNVK
                     VNFDNVGLGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEDNLYMYLYFVIFIIFGS
                     FFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPANKF
                     QGMVFDFVTKQVFDISIMILICLNMVTMMVETDDQSQEMTNILYWINLVFIVLFTGECV
                     LKLISLRYYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILR
                     LIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNF
                     ETFGNSMICLFQITTSAGWDGLLAPILNSGPPDCDPDKDHPGSSVKGDCGNPSVGIFFF
                     VSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFIEF
                     AKLSDFADALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDA
                     LRIQMEERFMASNPSKVSYEPITTTLKRKQEEVSAIIIQRAYRRYLLKQKVKKVSSIYK
                     KDKGKECDGTPIKEDTLIDKLNENSTPEKTDMTPSTTSPPSYDSVTKPEKEKFEKDKSE
                     KEDKGKDIRESKK"
     misc_feature    288..290
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    360..461
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    609..1646
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     Region: I. /evidence=ECO:0000305"
     misc_feature    666..722
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    744..806
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    849..902
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    912..914
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q99250.3); glycosylation site"
     misc_feature    921..971
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    1029..1088
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    1131..1133
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q99250.3); glycosylation site"
     misc_feature    1149..1151
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q99250.3); glycosylation site"
     misc_feature    1167..1169
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q99250.3); glycosylation site"
     misc_feature    1185..1187
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q99250.3); glycosylation site"
     misc_feature    1200..1202
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q99250.3); glycosylation site"
     misc_feature    1266..1268
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Binds Mu-conotoxin KIIIA.
                     /evidence=ECO:0000305|PubMed:30765605; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); other site"
     misc_feature    1296..1298
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30765605,
                     ECO:0007744|PDB:6J8E; propagated from UniProtKB/Swiss-Prot
                     (Q99250.3); glycosylation site"
     misc_feature    1362..1364
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Binds Mu-conotoxin KIIIA.
                     /evidence=ECO:0000305|PubMed:30765605; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); other site"
     misc_feature    1482..1544
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    1680..1682
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    1689..1691
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    1728..1730
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    1758..1865
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1854..1856
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    1860..1862
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    1869..1871
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    1935..1937
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    1938..1940
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    1950..1952
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    1995..1997
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    2004..2006
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    2043..2045
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    2046..2108
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2106..2108
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    2145..2147
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    2334..2336
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    2337..2339
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    2439..2441
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    2499..3317
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     Region: II. /evidence=ECO:0000305"
     misc_feature    2556..2612
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    2646..2705
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    2748..2807
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    2814..2867
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    2916..2972
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    3003..3005
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Binds SCN2B, via carbonyl oxygen.
                     /evidence=ECO:0000305|PubMed:30765605; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); other site"
     misc_feature    3024..3026
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Binds Mu-conotoxin KIIIA, via amide nitrogen.
                     /evidence=ECO:0000305|PubMed:30765605; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); other site"
     misc_feature    3027..3032
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     Region: Binds SCN2B. /evidence=ECO:0000305|PubMed:30765605"
     misc_feature    3036..3038
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Binds Mu-conotoxin KIIIA, via carbonyl oxygen.
                     /evidence=ECO:0000305|PubMed:30765605; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); other site"
     misc_feature    3111..3113
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Binds Mu-conotoxin KIIIA.
                     /evidence=ECO:0000305|PubMed:30765605; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); other site"
     misc_feature    3123..3125
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Binds Mu-conotoxin KIIIA.
                     /evidence=ECO:0000305|PubMed:30765605; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); other site"
     misc_feature    3162..3224
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    3636..3773
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3846..4790
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     Region: III. /evidence=ECO:0000305"
     misc_feature    3906..3959
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    3999..4055
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    4098..4154
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    4179..4235
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    4287..4346
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    4380..4382
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30765605,
                     ECO:0007744|PDB:6J8E; propagated from UniProtKB/Swiss-Prot
                     (Q99250.3); glycosylation site"
     misc_feature    4398..4400
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Binds Mu-conotoxin KIIIA, via amide nitrogen.
                     /evidence=ECO:0000305|PubMed:30765605; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); other site"
     misc_feature    4422..4424
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30765605,
                     ECO:0007744|PDB:6J8E; propagated from UniProtKB/Swiss-Prot
                     (Q99250.3); glycosylation site"
     misc_feature    4455..4457
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:30765605,
                     ECO:0007744|PDB:6J8E; propagated from UniProtKB/Swiss-Prot
                     (Q99250.3); glycosylation site"
     misc_feature    4563..4565
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Binds Mu-conotoxin KIIIA.
                     /evidence=ECO:0000305|PubMed:30765605; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); other site"
     misc_feature    4605..4607
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Binds Mu-conotoxin KIIIA.
                     /evidence=ECO:0000305|PubMed:30765605; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); other site"
     misc_feature    4620..4685
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    4743..4745
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Important for channel closure.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (Q99250.3); other site"
     misc_feature    4794..4796
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine, by PKC.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    4815..5711
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     Region: IV. /evidence=ECO:0000305"
     misc_feature    4875..4928
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    4962..5018
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    5055..5108
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    5148..5198
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    5256..5309
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    5535..5603
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     transmembrane region"
     misc_feature    6066..6068
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    6081..6293
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99250.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    6105..6107
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    6165..6167
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    6174..6176
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     misc_feature    6189..6191
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P04775; propagated from
                     UniProtKB/Swiss-Prot (Q99250.3); phosphorylation site"
     regulatory      8378..8383
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="hexamer: AATAAA"
     polyA_site      8403
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="major polyA site"
     regulatory      8494..8499
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="hexamer: AATAAA"
     polyA_site      8525
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="major polyA site"
     regulatory      8758..8763
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="hexamer: AATAAA"
     polyA_site      8776
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
                     /note="major polyA site"
ORIGIN
        1 aacagacatt gggtaccatc gaatgactgt cagaacagaa agctaaggca aaggagggag
       61 gatgctgtgg tcatcctttc ttgttttttt cttctttaat gaggatagag cacatgtgag
      121 attttacttt ctactccagt aaaaattctg aagaattgca ttggagactg ttatattcaa
      181 cacatacgtg gattctgtgt tatgatttac atttttcttt atttcagcac tttcttatgc
      241 aaggagctaa acagtgatta aaggagcagg atgaaaagat ggcacagtca gtgctggtac
      301 cgccaggacc tgacagcttc cgcttcttta ccagggaatc ccttgctgct attgaacaac
      361 gcattgcaga agagaaagct aagagaccca aacaggaacg caaggatgag gatgatgaaa
      421 atggcccaaa gccaaacagt gacttggaag caggaaaatc tcttccattt atttatggag
      481 acattcctcc agagatggtg tcagtgcccc tggaggatct ggacccctac tatatcaata
      541 agaaaacgtt tatagtattg aataaaggga aagcaatctc tcgattcagt gccacccctg
      601 ccctttacat tttaactccc ttcaacccta ttagaaaatt agctattaag attttggtac
      661 attctttatt caatatgctc attatgtgca cgattcttac caactgtgta tttatgacca
      721 tgagtaaccc tccagactgg acaaagaatg tggagtatac ctttacagga atttatactt
      781 ttgaatcact tattaaaata cttgcaaggg gcttttgttt agaagatttc acatttttac
      841 gggatccatg gaattggttg gatttcacag tcattacttt tgcatatgtg acagagtttg
      901 tggacctggg caatgtctca gcgttgagaa cattcagagt tctccgagca ttgaaaacaa
      961 tttcagtcat tccaggcctg aagaccattg tgggggccct gatccagtca gtgaagaagc
     1021 tttctgatgt catgatcttg actgtgttct gtctaagcgt gtttgcgcta ataggattgc
     1081 agttgttcat gggcaaccta cgaaataaat gtttgcaatg gcctccagat aattcttcct
     1141 ttgaaataaa tatcacttcc ttctttaaca attcattgga tgggaatggt actactttca
     1201 ataggacagt gagcatattt aactgggatg aatatattga ggataaaagt cacttttatt
     1261 ttttagaggg gcaaaatgat gctctgcttt gtggcaacag ctcagatgca ggccagtgtc
     1321 ctgaaggata catctgtgtg aaggctggta gaaaccccaa ctatggctac acgagctttg
     1381 acacctttag ttgggccttt ttgtccttat ttcgtctcat gactcaagac ttctgggaaa
     1441 acctttatca actgacacta cgtgctgctg ggaaaacgta catgatattt tttgtgctgg
     1501 tcattttctt gggctcattc tatctaataa atttgatctt ggctgtggtg gccatggcct
     1561 atgaggaaca gaatcaggcc acattggaag aggctgaaca gaaggaagct gaatttcagc
     1621 agatgctcga acagttgaaa aagcaacaag aagaagctca ggcggcagct gcagccgcat
     1681 ctgctgaatc aagagacttc agtggtgctg gtgggatagg agttttttca gagagttctt
     1741 cagtagcatc taagttgagc tccaaaagtg aaaaagagct gaaaaacaga agaaagaaaa
     1801 agaaacagaa agaacagtct ggagaagaag agaaaaatga cagagtccga aaatcggaat
     1861 ctgaagacag cataagaaga aaaggtttcc gtttttcctt ggaaggaagt aggctgacat
     1921 atgaaaagag attttcttct ccacaccagt ccttactgag catccgtggc tcccttttct
     1981 ctccaagacg caacagtagg gcgagccttt tcagcttcag aggtcgagca aaggacattg
     2041 gctctgagaa tgactttgct gatgatgagc acagcacctt tgaggacaat gacagccgaa
     2101 gagactctct gttcgtgccg cacagacatg gagaacggcg ccacagcaat gtcagccagg
     2161 ccagccgtgc ctccagggtg ctccccatcc tgcccatgaa tgggaagatg catagcgctg
     2221 tggactgcaa tggtgtggtc tccctggtcg ggggcccttc taccctcaca tctgctgggc
     2281 agctcctacc agagggcaca actactgaaa cagaaataag aaagagacgg tccagttctt
     2341 atcatgtttc catggattta ttggaagatc ctacatcaag gcaaagagca atgagtatag
     2401 ccagtatttt gaccaacacc atggaagaac ttgaagaatc cagacagaaa tgcccaccat
     2461 gctggtataa atttgctaat atgtgtttga tttgggactg ttgtaaacca tggttaaagg
     2521 tgaaacacct tgtcaacctg gttgtaatgg acccatttgt tgacctggcc atcaccatct
     2581 gcattgtctt aaatacactc ttcatggcta tggagcacta tcccatgacg gagcagttca
     2641 gcagtgtact gtctgttgga aacctggtct tcacagggat cttcacagca gaaatgtttc
     2701 tcaagataat tgccatggat ccatattatt actttcaaga aggctggaat atttttgatg
     2761 gttttattgt gagccttagt ttaatggaac ttggtttggc aaatgtggaa ggattgtcag
     2821 ttctccgatc attccggctg ctccgagttt tcaagttggc aaaatcttgg ccaactctaa
     2881 atatgctaat taagatcatt ggcaattctg tgggggctct aggaaacctc accttggtat
     2941 tggccatcat cgtcttcatt tttgctgtgg tcggcatgca gctctttggt aagagctaca
     3001 aagaatgtgt ctgcaagatt tccaatgatt gtgaactccc acgctggcac atgcatgact
     3061 ttttccactc cttcctgatc gtgttccgcg tgctgtgtgg agagtggata gagaccatgt
     3121 gggactgtat ggaggtcgct ggccaaacca tgtgccttac tgtcttcatg atggtcatgg
     3181 tgattggaaa tctagtggtt ctgaacctct tcttggcctt gcttttgagt tccttcagtt
     3241 ctgacaatct tgctgccact gatgatgata acgaaatgaa taatctccag attgctgtgg
     3301 gaaggatgca gaaaggaatc gattttgtta aaagaaaaat acgtgaattt attcagaaag
     3361 cctttgttag gaagcagaaa gctttagatg aaattaaacc gcttgaagat ctaaataata
     3421 aaaaagacag ctgtatttcc aaccatacca ccatagaaat aggcaaagac ctcaattatc
     3481 tcaaagacgg aaatggaact actagtggca taggcagcag tgtagaaaaa tatgtcgtgg
     3541 atgaaagtga ttacatgtca tttataaaca accctagcct cactgtgaca gtaccaattg
     3601 ctgttggaga atctgacttt gaaaatttaa atactgaaga attcagcagc gagtcagata
     3661 tggaggaaag caaagagaag ctaaatgcaa ctagttcatc tgaaggcagc acggttgata
     3721 ttggagctcc cgccgaggga gaacagcctg aggttgaacc tgaggaatcc cttgaacctg
     3781 aagcctgttt tacagaagac tgtgtacgga agttcaagtg ttgtcagata agcatagaag
     3841 aaggcaaagg gaaactctgg tggaatttga ggaaaacatg ctataagata gtggagcaca
     3901 attggttcga aaccttcatt gtcttcatga ttctgctgag cagtggggct ctggcctttg
     3961 aagatatata cattgagcag cgaaaaacca ttaagaccat gttagaatat gctgacaagg
     4021 ttttcactta catattcatt ctggaaatgc tgctaaagtg ggttgcatat ggttttcaag
     4081 tgtattttac caatgcctgg tgctggctag acttcctgat tgttgatgtc tcactggtta
     4141 gcttaactgc aaatgccttg ggttactcag aacttggtgc catcaaatcc ctcagaacac
     4201 taagagctct gaggccactg agagctttgt cccggtttga aggaatgagg gttgttgtaa
     4261 atgctctttt aggagccatt ccatctatca tgaatgtact tctggtttgt ctgatctttt
     4321 ggctaatatt cagtatcatg ggagtgaatc tctttgctgg caagttttac cattgtatta
     4381 attacaccac tggagagatg tttgatgtaa gcgtggtcaa caactacagt gagtgcaaag
     4441 ctctcattga gagcaatcaa actgccaggt ggaaaaatgt gaaagtaaac tttgataacg
     4501 taggacttgg atatctgtct ctacttcaag tagccacgtt taagggatgg atggatatta
     4561 tgtatgcagc tgttgattca cgaaatgtag aattacaacc caagtatgaa gacaacctgt
     4621 acatgtatct ttattttgtc atctttatta tttttggttc attctttacc ttgaatcttt
     4681 tcattggtgt catcatagat aacttcaacc aacagaaaaa gaagtttgga ggtcaagaca
     4741 tttttatgac agaagaacag aagaaatact acaatgcaat gaaaaaactg ggttcaaaga
     4801 aaccacaaaa acccatacct cgacctgcta acaaattcca aggaatggtc tttgattttg
     4861 taaccaaaca agtctttgat atcagcatca tgatcctcat ctgccttaac atggtcacca
     4921 tgatggtgga aaccgatgac cagagtcaag aaatgacaaa cattctgtac tggattaatc
     4981 tggtgtttat tgttctgttc actggagaat gtgtgctgaa actgatctct cttcgttact
     5041 actatttcac tattggatgg aatatttttg attttgtggt ggtcattctc tccattgtag
     5101 gaatgtttct ggctgaactg atagaaaagt attttgtgtc ccctaccctg ttccgagtga
     5161 tccgtcttgc caggattggc cgaatcctac gtctgatcaa aggagcaaag gggatccgca
     5221 cgctgctctt tgctttgatg atgtcccttc ctgcgttgtt taacatcggc ctccttcttt
     5281 tcctggtcat gttcatctac gccatctttg ggatgtccaa ttttgcctat gttaagaggg
     5341 aagttgggat cgatgacatg ttcaactttg agacctttgg caacagcatg atctgcctgt
     5401 tccaaattac aacctctgct ggctgggatg gattgctagc acctattctt aatagtggac
     5461 ctccagactg tgaccctgac aaagatcacc ctggaagctc agttaaagga gactgtggga
     5521 acccatctgt tgggattttc ttttttgtca gttacatcat catatccttc ctggttgtgg
     5581 tgaacatgta catcgcggtc atcctggaga acttcagtgt tgctactgaa gaaagtgcag
     5641 agcctctgag tgaggatgac tttgagatgt tctatgaggt ttgggagaag tttgatcccg
     5701 atgcgaccca gtttatagag tttgccaaac tttctgattt tgcagatgcc ctggatcctc
     5761 ctcttctcat agcaaaaccc aacaaagtcc agctcattgc catggatctg cccatggtga
     5821 gtggtgaccg gatccactgt cttgacatct tatttgcttt tacaaagcgt gttttgggtg
     5881 agagtggaga gatggatgcc cttcgaatac agatggaaga gcgattcatg gcatcaaacc
     5941 cctccaaagt ctcttatgag cccattacga ccacgttgaa acgcaaacaa gaggaggtgt
     6001 ctgctattat tatccagagg gcttacagac gctacctctt gaagcaaaaa gttaaaaagg
     6061 tatcaagtat atacaagaaa gacaaaggca aagaatgtga tggaacaccc atcaaagaag
     6121 atactctcat tgataaactg aatgagaatt caactccaga gaaaaccgat atgacgcctt
     6181 ccaccacgtc tccaccctcg tatgatagtg tgaccaaacc agaaaaagaa aaatttgaaa
     6241 aagacaaatc agaaaaggaa gacaaaggga aagatatcag ggaaagtaaa aagtaaaaag
     6301 aaaccaagaa ttttccattt tgtgatcaat tgtttacagc ccgtgatggt gatgtgtttg
     6361 tgtcaacagg actcccacag gaggtctatg ccaaactgac tgtttttaca aatgtatact
     6421 taaggtcagt gcctataaca agacagagac ctctggtcag caaactggaa ctcagtaaac
     6481 tggagaaata gtatcgatgg gaggtttcta ttttcacaac cagctgacac tgctgaagag
     6541 cagaggcgta atggctactc agacgatagg aaccaattta aaggggggag ggaagttaaa
     6601 tttttatgta aattcaacat gtgacacttg ataatagtaa ttgtcaccag tgtttatgtt
     6661 ttaactgcca cacctgccat atttttacaa aacgtgtgct gtgaatttat cacttttctt
     6721 tttaattcac aggttgttta ctattatatg tgactatttt tgtaaatggg tttgtgtttg
     6781 gggagaggga ttaaagggag ggaattctac atttctctat tgtattgtat aactggatat
     6841 attttaaatg gaggcatgct gcaattctca ttcacacata aaaaaatcac atcacaaaag
     6901 ggaagagttt acttcttgtt tcaggatgtt tttagatttt tgaggtgctt aaatagctat
     6961 tcgtattttt aaggtgtctc atccagaaaa aatttaatgt gcctgtaaat gttccataga
     7021 atcacaagca ttaaagagtt gttttatttt tacataaccc attaaatgta catgtatata
     7081 tgtatatatg tatatgtgcg tgtatataca tatatatgta tacacacatg cacacacaga
     7141 gatatacaca taccattaca ttgtcattca cagtcccagc agcatgacta tcacattttt
     7201 gataagtgtc ctttggcata aaataaaaat atcctatcag tcctttctaa gaagcctgaa
     7261 ttgaccaaaa aacatcccca ccaccacttt ataaagttga ttctgcttta tcctgcagta
     7321 ttgtttagcc atcttctgct cttggtaagg ttgacatagt atatgtcaat ttaaaaaata
     7381 aaagtctgct ttgtaaatag taattttacc cagtggtgca tgtttgagca aacaaaaatg
     7441 atgatttaag cacactactt attgcatcaa atatgtacca cagtaagtat agtttgcaag
     7501 ctttcaacag gtaatatgat gtaattggtt ccattatagt ttgaagctgt cactgctgca
     7561 tgtttatctt gcctatgctg ctgtatctta ttccttccac tgttcagaag tctaatatgg
     7621 gaagccatat atcagtggta aagtgaagca aattgttcta ccaagacctc attcttcatg
     7681 tcattaagca ataggttgca gcaaacaagg aagagcttct tgctttttat tcttccaacc
     7741 ttaattgaac actcaatgat gaaaagcccg actgtacaaa catgttgcaa gctgcttaaa
     7801 tctgtttaaa atatatggtt agagttttct aagaaaatat aaatactgta aaaagttcat
     7861 tttattttat ttttcagcct tttgtacgta aaatgagaaa ttaaaagtat cttcaggtgg
     7921 atgtcacagt cactattgtt agtttctgtt cctagcactt ttaaattgaa gcacttcaca
     7981 aaataagaag caaggactag gatgcagtgt aggtttctgc ttttttatta gtactgtaaa
     8041 cttgcacaca tttcaatgtg aaacaaatct caaactgagt tcaatgttta tttgctttca
     8101 atagtaatgc cttatcattg aaagaggctt aaagaaaaaa aaaatcagct gatactcttg
     8161 gcattgcttg aatccaatgt ttccacctag tctttttatt cagtaatcat cagtcttttc
     8221 caatgtttgt ttacacagat agatcttatt gacccatatg gcactagaac tgtatcagat
     8281 ataatatggg atcccagctt tttttcctct cccacaaaac caggtagtga agttatatta
     8341 ccagttacag caaaatactt tgtgtttcac aagcaacaat aaatgtagat tctttatact
     8401 gaagctattg acttgtagtg tgttggtgaa atgcatgcag gaaaatgctg ttaccataaa
     8461 gaacggtaaa ccacattaca atcaagccaa aagaataaag gtttcgcttt tgtttttgta
     8521 tttaattgtt gtctttgttt ctatctttga aatgccattt aaaggtagat ttctatcatg
     8581 taaaaataat ctatctgaaa aacaaatgta aagaacacac attaattact ataattcatc
     8641 tttcaatttt ttcatggaat ggaagttaat taagaagagt gtattggata actactttaa
     8701 tattggccaa aaagctagat atggcatcag gtagactagt ggaaagttac aaaaattaat
     8761 aaaaaattga ctaaca
//
LOCUS       NM_001040151            5683 bp    mRNA    linear   PRI 18-MAR-2023
DEFINITION  Homo sapiens sodium voltage-gated channel beta subunit 3 (SCN3B),
            transcript variant 2, mRNA.
ACCESSION   NM_001040151
VERSION     NM_001040151.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5683)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 5683)
  AUTHORS   Li S, Han J, Guo G, Sun Y, Zhang T, Zhao M, Xu Y, Cui Y, Liu Y and
            Zhang J.
  TITLE     Voltage-gated sodium channels beta3 subunit promotes tumorigenesis
            in hepatocellular carcinoma by facilitating p53 degradation
  JOURNAL   FEBS Lett 594 (3), 497-508 (2020)
   PUBMED   31626714
  REMARK    GeneRIF: Voltage-gated sodium channels beta3 subunit promotes
            tumorigenesis in hepatocellular carcinoma by facilitating p53
            degradation.
REFERENCE   3  (bases 1 to 5683)
  AUTHORS   Pawlak-Osinska K, Linkowska K, Holub K, Winiarska K, Stankiewicz B,
            Kazmierczak H, Osinski S, Marzec M and Grzybowski T.
  TITLE     An Analysis of the Association between Epilepsy-Related Genes and
            Vertigo in the Polish Population
  JOURNAL   Audiol Neurootol 23 (3), 135-144 (2018)
   PUBMED   30300896
  REMARK    GeneRIF: rs1783901 may play a potential role of gene regulation
            and/or epistasis in a complex etiology of vertigo.
REFERENCE   4  (bases 1 to 5683)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 5683)
  AUTHORS   Peeters U, Scornik F, Riuro H, Perez G, Komurcu-Bayrak E, Van
            Malderen S, Pappaert G, Tarradas A, Pagans S, Daneels D, Breckpot K,
            Brugada P, Bonduelle M, Brugada R and Van Dooren S.
  TITLE     Contribution of Cardiac Sodium Channel beta-Subunit Variants to
            Brugada Syndrome
  JOURNAL   Circ J 79 (10), 2118-2129 (2015)
   PUBMED   26179811
  REMARK    GeneRIF: Contribution of Cardiac Sodium Channel beta-Subunit
            Variants to Brugada Syndrome.
REFERENCE   6  (bases 1 to 5683)
  AUTHORS   Ratcliffe CF, Westenbroek RE, Curtis R and Catterall WA.
  TITLE     Sodium channel beta1 and beta3 subunits associate with neurofascin
            through their extracellular immunoglobulin-like domain
  JOURNAL   J Cell Biol 154 (2), 427-434 (2001)
   PUBMED   11470829
REFERENCE   7  (bases 1 to 5683)
  AUTHORS   Stevens EB, Cox PJ, Shah BS, Dixon AK, Richardson PJ, Pinnock RD and
            Lee K.
  TITLE     Tissue distribution and functional expression of the human
            voltage-gated sodium channel beta3 subunit
  JOURNAL   Pflugers Arch 441 (4), 481-488 (2001)
   PUBMED   11212211
REFERENCE   8  (bases 1 to 5683)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   9  (bases 1 to 5683)
  AUTHORS   Morgan K, Stevens EB, Shah B, Cox PJ, Dixon AK, Lee K, Pinnock RD,
            Hughes J, Richardson PJ, Mizuguchi K and Jackson AP.
  TITLE     beta 3: an additional auxiliary subunit of the voltage-sensitive
            sodium channel that modulates channel gating with distinct kinetics
  JOURNAL   Proc Natl Acad Sci U S A 97 (5), 2308-2313 (2000)
   PUBMED   10688874
REFERENCE   10  (bases 1 to 5683)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301690
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB032984.1, SRR1660809.251090.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2162841
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000299333.8/ ENSP00000299333.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP002765.3.
            On Jun 1, 2020 this sequence version replaced NM_001040151.1.
            Summary: Voltage-gated sodium channels are transmembrane
            glycoprotein complexes composed of a large alpha subunit and one or
            more regulatory beta subunits. They are responsible for the
            generation and propagation of action potentials in neurons and
            muscle. This gene encodes one member of the sodium channel beta
            subunit gene family, and influences the inactivation kinetics of
            the sodium channel. Two alternatively spliced variants, encoding
            the same protein, have been identified. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same isoform.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5683
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.1"
     gene            1..5683
                     /gene="SCN3B"
                     /gene_synonym="ATFB16; BRGDA7; HSA243396; SCNB3"
                     /note="sodium voltage-gated channel beta subunit 3"
                     /db_xref="GeneID:55800"
                     /db_xref="HGNC:HGNC:20665"
                     /db_xref="MIM:608214"
     misc_feature    263..265
                     /gene="SCN3B"
                     /gene_synonym="ATFB16; BRGDA7; HSA243396; SCNB3"
                     /note="upstream in-frame stop codon"
     CDS             425..1072
                     /gene="SCN3B"
                     /gene_synonym="ATFB16; BRGDA7; HSA243396; SCNB3"
                     /note="voltage-gated sodium channel beta-3 subunit; sodium
                     channel subunit beta-3; sodium channel, voltage-gated, type
                     III, beta subunit"
                     /codon_start=1
                     /product="sodium channel subunit beta-3 precursor"
                     /protein_id="NP_001035241.1"
                     /db_xref="CCDS:CCDS8442.1"
                     /db_xref="GeneID:55800"
                     /db_xref="HGNC:HGNC:20665"
                     /db_xref="MIM:608214"
                     /translation="MPAFNRLFPLASLVLIYWVSVCFPVCVEVPSETEAVQGNPMKLRC
                     ISCMKREEVEATTVVEWFYRPEGGKDFLIYEYRNGHQEVESPFQGRLQWNGSKDLQDVS
                     ITVLNVTLNDSGLYTCNVSREFEFEAHRPFVKTTRLIPLRVTEEAGEDFTSVVSEIMMY
                     ILLVFLTLWLLIEMIYCYRKVSKAEEAAQENASDYLAIPSENKENSAVPVEE"
     sig_peptide     425..490
                     /gene="SCN3B"
                     /gene_synonym="ATFB16; BRGDA7; HSA243396; SCNB3"
     mat_peptide     491..1069
                     /gene="SCN3B"
                     /gene_synonym="ATFB16; BRGDA7; HSA243396; SCNB3"
                     /product="sodium channel subunit beta-3"
     misc_feature    707..709
                     /gene="SCN3B"
                     /gene_synonym="ATFB16; BRGDA7; HSA243396; SCNB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9NY72.1); glycosylation site"
     misc_feature    749..751
                     /gene="SCN3B"
                     /gene_synonym="ATFB16; BRGDA7; HSA243396; SCNB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9NY72.1); glycosylation site"
     misc_feature    761..763
                     /gene="SCN3B"
                     /gene_synonym="ATFB16; BRGDA7; HSA243396; SCNB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9NY72.1); glycosylation site"
     misc_feature    785..787
                     /gene="SCN3B"
                     /gene_synonym="ATFB16; BRGDA7; HSA243396; SCNB3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9NY72.1); glycosylation site"
     misc_feature    902..964
                     /gene="SCN3B"
                     /gene_synonym="ATFB16; BRGDA7; HSA243396; SCNB3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NY72.1);
                     transmembrane region"
     regulatory      5662..5667
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCN3B"
                     /gene_synonym="ATFB16; BRGDA7; HSA243396; SCNB3"
                     /note="hexamer: AATAAA"
     polyA_site      5683
                     /gene="SCN3B"
                     /gene_synonym="ATFB16; BRGDA7; HSA243396; SCNB3"
                     /note="major polyA site"
ORIGIN
        1 ggagagccgc ctgcgcatgt cagggctgac agcacacacg gcctgggggc ctagagaagg
       61 gttgctgatc acctgccacc cagggtcggg gccccgcacc atccgggggc gagctcccgg
      121 gaaggggctc cgcctctaca cccacccccc aacctctgac atcgccggcc gaacgggagc
      181 tgccgcttcc ttcccggccc cgctgcacct ccccagggag ccgagggcgg gcgtggacgg
      241 gaccgacgtg gaacgcattc tgtagcccag acgggcggcc ccggcggctt cgggagtggg
      301 gtcacgccca gctggagaag cagttagggc ggacgaagca ggagccgcgg ggctgggagg
      361 attccagtcg gaacgcaacc gatcctgggg aggcgagagc cttggaagcc gccagcccca
      421 gaagatgcct gccttcaata gattgtttcc cctggcttct ctcgtgctta tctactgggt
      481 cagtgtctgc ttccctgtgt gtgtggaagt gccctcggag acggaggccg tgcagggcaa
      541 ccccatgaag ctgcgctgca tctcctgcat gaagagagag gaggtggagg ccaccacggt
      601 ggtggaatgg ttctacaggc ccgagggcgg taaagatttc cttatttacg agtatcggaa
      661 tggccaccag gaggtggaga gcccctttca ggggcgcctg cagtggaatg gcagcaagga
      721 cctgcaggac gtgtccatca ctgtgctcaa cgtcactctg aacgactctg gcctctacac
      781 ctgcaatgtg tcccgggagt ttgagtttga ggcgcatcgg ccctttgtga agacgacgcg
      841 gctgatcccc ctaagagtca ccgaggaggc tggagaggac ttcacctctg tggtctcaga
      901 aatcatgatg tacatccttc tggtcttcct caccttgtgg ctgctcatcg agatgatata
      961 ttgctacaga aaggtctcaa aagccgaaga ggcagcccaa gaaaacgcgt ctgactacct
     1021 tgccatccca tctgagaaca aggagaactc tgcggtacca gtggaggaat agaacaggag
     1081 cagtgtgaca tgaggtggcc tgaacacctg agggactgga catcccatgt tcagcaatgt
     1141 caatggcatc aggagggcgc cccaagggcc ccatcgcttc ccttcatgca tccattgttc
     1201 tgttcattca ttcatccata catccacctg cctctgagct ttcacctctg actccctaac
     1261 tccatcagac ctctacgcac cataagactc tgccagaact gagaagccaa catttctaca
     1321 tagactcaac ctcaccctct cctagttttc caacaagaca ctccaaagcc aactggattt
     1381 ctcccctgtg ctccaaatga ctttgtacaa gtgctggagt tagcacctcc ctctgccctt
     1441 aactggctgg aactggttca ttctccatta ctgcaagaga atggaagtct taatagaagg
     1501 aagcaggagt gattagttcg ggttaaagca aaagtgtgtc atgaacttgg attccctgaa
     1561 gtcagttttg tcaggttcat ggcccacttt gctacagcat cagagtgaag cacgcctgtc
     1621 taggttctcc agtgacagaa agatcctgaa gcatggacta acatgctctc tggagcttag
     1681 tactccagag ctagatcctg atgggtctct aaggttccct ccaagaagac aaggacagga
     1741 gacttgggaa ggaccaatgg taatttaagt ggctcttaaa aagtcatgca acatgtttct
     1801 ggacacgttc ctgatcctat tgcgataatg tatgtgtgcc ctccctgtgg gcacaccacc
     1861 tgggcattag gactgaaatt cctgagttct tcctctcaaa atttctgtgc accagtatta
     1921 ttcctcattt tacatacagg aggcaactaa gactcataca gggctcaact gaataagagg
     1981 cttaagagga taaactggag cagaaataag ccttaggtgc tgcccagttt acacttcctg
     2041 ggatggatgt ttttgtttgt tttgtttttt gttttttttg tttgagatgg agtctcactc
     2101 tgtcacctag gctagagtgc agtggtgtga tctcggctca ctgcaacctc tgcctcttgg
     2161 gttcaagcaa ttctcatgcc tcggcctctc cagtagctgg gattacaggt gtgcaccacc
     2221 acgcctggct aaattttgta tttttagtac agacagggtt tgactatgtt ggccaggcta
     2281 gtcttgaact cctgacctca aatgacccac ccacctcagc ctcccaaagt gctgagatta
     2341 caggcgtgag gcactgcgcc cggtggataa ctttgtttct gaaaagactg acattgaact
     2401 tgtctatggc aatgcttctt tcacaagcac ggactgggct gaggtcaact ctgatagatt
     2461 cagatgacta gaaattggcc aaaaaagcag ggagaagaac atgaggtaga cttaaagaac
     2521 ttcctttatg taaagatctg tgactctgaa atatcctcca aaaggagagt gcatctgaga
     2581 ctgatattta aactaagaaa aatgtttagt ctgagatgga tcataagtaa atgagcagtg
     2641 tgagagggga gggatgggta ggtgctttcc aaatacttcg cctatgaatg cataattttc
     2701 agattttttt cccctagatt ttgagggagc agagaaactg gaaaaaactt tagtcaatat
     2761 ctcgtgtttc attttaatta agtgacaggt ccaagtgtga catccttcag cacccaggga
     2821 caagagaggg gaaagatgct ttatggaatg taagaagatg aaggtgactg ggattcagcg
     2881 agagagaggt ccctcagacc tgggacctcc ctttataggg aaagaccata ttccataggt
     2941 ttagggcttt accttaaaag ctcatttttt tcattcttcc atccctagga aagtacttaa
     3001 aaccagactt ttaaattttt atttatttat tattattttt ttgagacaga ttctcactct
     3061 gtctcccagg ctagagtgca gtggtgcaat ctcagctcac tgcagcctca actgccccag
     3121 gtttaagcaa tcctcccacc tcagccccca ggtaactggg actacaggca tgcaccacca
     3181 tgcctggcta atttttgtat tttatgtaga gacaggggtc ttgccatgtc gcccaggctg
     3241 atcttgaact cctgggctca agcaatctgc cagcctcagc ctctcaaagt gctgggatta
     3301 caggcctgag caactgtgcc tggcccaaaa ccagaccgtt aacacattaa agagtctgat
     3361 tttgttgaag aaaatatttg caataaattc aagactcttc ttattggtaa ttttccacac
     3421 aatccctctg aaataaggga gaggatatag acctttttaa ctttatagtt agaaaaattg
     3481 gcctcagtgt gaaatttttc cagtcccata gctcatggat gccaccagct tgcggtagta
     3541 gcaagatgct tactaccaca ccgttttcct cggtggccca atagctcgtg tatctaagtt
     3601 gaacccggca gtatgcatga ttgccttttt ctcttctttt taaaaaaacc caactcagat
     3661 gctgcttgcg tggcttttaa tgaagctgaa tggtatctat cacttattta tccttgacag
     3721 gttatcttcc ccactcttcc tttttctaac ttctccattc ttctcattct tgacactttc
     3781 attagaacta tatggtttac gaagtatttt cacttaacta ttttatttct tctctataac
     3841 tggtcctgtg aggtcacatt acaaaagaag aaactgaggg tctctgaggt taagtagctt
     3901 tactaaatta taaggaaacc tagctggtag gtagacagca agaatccagg tcttctgact
     3961 cctctttcag ttctctttcc acttagacca tagctgcttc cttttcttat tttttagctt
     4021 ccatctaacc attgcctatc ttgcctgtcc taatgttctc catcttctct cacccctaat
     4081 cccactcact gcttctctac cactttgctt tttggtggat gctagcaatg tgctttgaga
     4141 gtcagtccta ttttggttct ctttctagtt ggtttgtaca tcattatttc tcctgaattg
     4201 caattaaact ccttcctggg agatttgata atgactgtaa atcaataagg tactgtgatc
     4261 accagcctac ttccaatctc cacccacctc cctgtctctt cccataatcc tacgaaagac
     4321 ccagactaga tgtctgtttc tctggaagct ttatctggca tgatgttgct tattaaaggg
     4381 cttagaagag ttctcaaggg ctattaatat cactttagaa accccatctg ttgtcttggt
     4441 gctggatatt tcccatgtct gatcctcaat aacacaattc actaaaggcc aagcttggct
     4501 caatctgatt ttcccattct tactacttca cagccatgaa tgtgattgct caatccagtt
     4561 ggccctgaga gcaccttgcc ctgctgacct tcactgtcac ctcggtcttg aatcagagcc
     4621 ccaacccaaa cactccctgc ctgtccctac cccagccttt attctcacca cttgtttaac
     4681 ggcatgacct tttagtttct ccattcccag acacccacac acccagactt ccttctgagt
     4741 tgcaggtttc tccttagatg tccaactaga aatattacta ggaaagttac ttttcaaagc
     4801 aggaatgtgc tgggaagtag gagacagcaa ctccctcctc tctccccaaa attattggat
     4861 caaaaaagaa attccatcca tctcagaatc tgtgagtcct cctcacataa atctgaggga
     4921 aaaggctgtg tcactgcatc tttgcaggaa gaaagagaag caagagctag acacacttca
     4981 gaatatatct tagtttcccc tttcccagtt taacatgaaa atgaaaaaag aaaaaaatga
     5041 aaaacaaaaa caaaagaagc cttcctctca cctcattttg taaatgaaaa atccctaatt
     5101 cagtgaattc acctagtcac tgcaaatgta tctgaatagt gcttggtgtg cttgccagtc
     5161 tgatcatcca ctcattctac taacatcttt ttgcacccac tctgtcaagc tctagcctag
     5221 acctttagtg tgccatgcag tcacaggtct gaaaagcagc atcatccaaa ccttacttaa
     5281 tctctaaaat ctcagctggt ggacagctca tgattagttc agcccacttc ctccccctta
     5341 gttgagtttg cagcaggacg caggagataa gcacttccaa gcaagtctga tttatatatc
     5401 aaactcggtc tccatcccag gccagctgac cctcagagcc agcaatgctc tgtgcttcct
     5461 ccctgcgtca cggcttggca agagctgcct ctgctgagca gtgtgtgtga tggagacgga
     5521 ggccgctgaa ggccgagtgc ttgcaggctt gtgaactgcc atcgaacaca atccaaactc
     5581 tggaaatgtt cctgaccacc taagccctca acaacgtaat gcctgtatgt gctgtttttc
     5641 agtaaactcc ttgttcatgt caataaagta tccctgaaaa cca
//
LOCUS       NM_001040157            4298 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens centrosomal protein 44 (CEP44), transcript variant 1,
            mRNA.
ACCESSION   NM_001040157
VERSION     NM_001040157.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4298)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 4298)
  AUTHORS   Hossain D, Shih SY, Xiao X, White J and Tsang WY.
  TITLE     Cep44 functions in centrosome cohesion by stabilizing rootletin
  JOURNAL   J Cell Sci 133 (4) (2020)
   PUBMED   31974111
  REMARK    GeneRIF: Cep44 functions in centrosome cohesion by stabilizing
            rootletin. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4298)
  AUTHORS   Atorino ES, Hata S, Funaya C, Neuner A and Schiebel E.
  TITLE     CEP44 ensures the formation of bona fide centriole wall, a
            requirement for the centriole-to-centrosome conversion
  JOURNAL   Nat Commun 11 (1), 903 (2020)
   PUBMED   32060285
  REMARK    GeneRIF: CEP44 was identified as a luminal centriolar protein that
            binds to A-MTs and the inner centriole protein POC1B. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 4298)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam S,
            MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4298)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE,
            Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker SA,
            Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G,
            Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   6  (bases 1 to 4298)
  AUTHORS   Gupta GD, Coyaud E, Goncalves J, Mojarad BA, Liu Y, Wu Q,
            Gheiratmand L, Comartin D, Tkach JM, Cheung SW, Bashkurov M, Hasegan
            M, Knight JD, Lin ZY, Schueler M, Hildebrandt F, Moffat J, Gingras
            AC, Raught B and Pelletier L.
  TITLE     A Dynamic Protein Interaction Landscape of the Human
            Centrosome-Cilium Interface
  JOURNAL   Cell 163 (6), 1484-1499 (2015)
   PUBMED   26638075
REFERENCE   7  (bases 1 to 4298)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   8  (bases 1 to 4298)
  AUTHORS   Jakobsen L, Vanselow K, Skogs M, Toyoda Y, Lundberg E, Poser I,
            Falkenby LG, Bennetzen M, Westendorf J, Nigg EA, Uhlen M, Hyman AA
            and Andersen JS.
  TITLE     Novel asymmetrically localizing components of human centrosomes
            identified by complementary proteomics methods
  JOURNAL   EMBO J 30 (8), 1520-1535 (2011)
   PUBMED   21399614
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB051499.1, SRR1803614.87824.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000503780.6/ ENSP00000423153.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA347369.1, AY426674.1 and AC097653.2.
            On Nov 23, 2018 this sequence version replaced NM_001040157.2.
            Transcript Variant: This variant (1) represents the longer
            transcript but encodes the shorter isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4298
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q34.1"
     gene            1..4298
                     /gene="CEP44"
                     /gene_synonym="KIAA1712; PS1TP3"
                     /note="centrosomal protein 44"
                     /db_xref="GeneID:80817"
                     /db_xref="HGNC:HGNC:29356"
                     /db_xref="MIM:620217"
     misc_feature    175..177
                     /gene="CEP44"
                     /gene_synonym="KIAA1712; PS1TP3"
                     /note="upstream in-frame stop codon"
     CDS             181..1353
                     /gene="CEP44"
                     /gene_synonym="KIAA1712; PS1TP3"
                     /note="isoform a is encoded by transcript variant 1;
                     centrosomal protein of 44 kDa; HBV PreS1-transactivated
                     protein 3; centrosomal protein 44kDa"
                     /codon_start=1
                     /product="centrosomal protein of 44 kDa isoform a"
                     /protein_id="NP_001035247.1"
                     /db_xref="CCDS:CCDS34106.1"
                     /db_xref="GeneID:80817"
                     /db_xref="HGNC:HGNC:29356"
                     /db_xref="MIM:620217"
                     /translation="MATGDLKRSLRNLEQVLRLLNYPEEVDCVGLIKGDPAASLPIISY
                     SFTSYSPYVTELIMESNVELIAKNDLRFIDAVYKLLRDQFNYKPILTKKQFIQCGFAEW
                     KIQIVCDILNCVMKKHKELSSLQKIPSQQRKKISSGKSEPPLGNEKISAEAVGVDISGR
                     FMTSGKKKAVVIRHLYNEDNVDISEDTLSPITDVNEAVDVSDLNATEIKMPEVKVPEIK
                     AEQQDVNVNPEITALQTMLAECQENLKKLTSIEKRLDCLEQKMKGKVMVDENTWTNLLS
                     RVTLLETEMLLSKKNDEFIEFNEVSEDYASCSDMDLLNPHRKSEVERPASIPLSSGYST
                     ASSDSTPRASTVNYCGLNEISEETTIQKMERMKKMFEETAELLKCPNHYL"
     misc_feature    211..765
                     /gene="CEP44"
                     /gene_synonym="KIAA1712; PS1TP3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0F1.2);
                     Region: Binds with microtubules and centrioles.
                     /evidence=ECO:0000269|PubMed:31974111"
     misc_feature    1144..1224
                     /gene="CEP44"
                     /gene_synonym="KIAA1712; PS1TP3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0F1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1171..1173
                     /gene="CEP44"
                     /gene_synonym="KIAA1712; PS1TP3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9C0F1.2); phosphorylation site"
     misc_feature    1213..1215
                     /gene="CEP44"
                     /gene_synonym="KIAA1712; PS1TP3"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9C0F1.2); phosphorylation site"
     misc_feature    1216..1218
                     /gene="CEP44"
                     /gene_synonym="KIAA1712; PS1TP3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9C0F1.2); phosphorylation site"
     regulatory      4279..4284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CEP44"
                     /gene_synonym="KIAA1712; PS1TP3"
                     /note="hexamer: AATAAA"
     polyA_site      4298
                     /gene="CEP44"
                     /gene_synonym="KIAA1712; PS1TP3"
                     /note="major polyA site"
ORIGIN
        1 agagaagctc ccagctttga aggtcttgcg gtgaagcatc aagtgtacct gatttgtgaa
       61 cctatcttgc ttcagttggt ttcctcctaa atattaggca gatgggattg gctggtctgt
      121 gctctgctag gtgaaaaatt agacgatttc aagaattgga gctgaatctg atgttaagta
      181 atggcaacag gtgacttaaa aagaagctta cggaacctag aacaggtgct ccgcttgcta
      241 aattatcctg aagaggtgga ctgtgtaggt ttgataaagg gagacccagc agcatctttg
      301 cccatcatca gctattcttt tacctcatac tcaccttatg taacagaact tataatggaa
      361 tccaatgtag agctcatagc aaaaaatgac ttgcgcttta tagatgctgt ctataagctt
      421 cttcgtgatc aatttaatta taaaccaatt ttgacaaaaa agcagtttat ccaatgtggg
      481 tttgcagaat ggaaaatcca aattgtttgt gatattttga attgtgtgat gaaaaagcac
      541 aaggaattaa gcagtcttca gaagattcca tcacaacaaa gaaagaaaat cagttctggt
      601 aagtcagaac ctcctttggg caatgagaaa atatctgcag aggctgttgg cgttgatatc
      661 agtggcaggt ttatgacctc aggaaagaag aaagctgtgg tgattcgtca cttgtataat
      721 gaagataatg ttgacatttc tgaggataca ttaagtccaa taacagatgt taatgaagca
      781 gttgatgtgt ctgacttaaa tgctactgaa ataaagatgc ctgaagtaaa ggttcctgaa
      841 atcaaggctg agcaacagga tgtaaatgtt aatcctgaga ttactgcact acaaactatg
      901 cttgctgaat gccaagaaaa tcttaagaaa ctgacttcga tagagaaaag gttagactgt
      961 ttggaacaaa aaatgaaagg aaaagtgatg gtagatgaaa acacctggac taatcttctt
     1021 agtcgtgtca ctcttcttga aacagaaatg cttttgtcta aaaagaatga tgaatttata
     1081 gagtttaatg aagttagtga agactacgct tcttgtagtg acatggacct tctgaatcct
     1141 cacagaaaaa gcgaagtaga gaggccagca agtattcctc tgtcctctgg ctatagtaca
     1201 gcatcatcag attcaactcc cagagcctct actgttaatt actgtggttt gaatgagatt
     1261 tcagaggaaa caacaatcca gaaaatggaa aggatgaaaa aaatgtttga agaaactgca
     1321 gagttactga aatgtccaaa tcactacttg taggattttc tacatgaact tttttctagg
     1381 actttggtta ctatacatat tgtatatttt aagaattctt tatacaattt taatatactg
     1441 caatactgca gtttttgaca atttggattc catttggtat atgaattttt gcattcatta
     1501 ttgaataact cttttaatat ttttgagcaa tgattatact gctttacctt gtgtcacttt
     1561 tttttttttt aggaaaaact catgttccag tatatttctc ttacagagtg aagtcattac
     1621 agcactgtat ttctgtgttg acatttgttg gcagtgtgct aagtaatgtt ttttaaagca
     1681 caggcttgag gactatggtt tacatcctgt tggaaacatt ccaaatggga cttgtgtatt
     1741 atacccagga ggctctcata tataccatct tggcatctgt actgatgaat aagttataat
     1801 gaacagttaa aaatgctcat tgaaaattaa ataaaacaaa aaggcagtta tttcatgctt
     1861 ggtcaaaaac atcaatacct ttccaattaa cactgagaaa ttaaggttaa gattctcctt
     1921 ttgtactggg aaacaggctg gaggactatg gtcctcaagt ttagaccaag aggactatgg
     1981 tctcaaggtt caccatgaga aatgtgttga acattttagt atgctctatt gtataatttt
     2041 tttggagggg gggatggagt ttcgctgttg ttgcccaggc tggagtgcaa tagcacgatc
     2101 ttggctcacc gcaacctctg cctaccgggt tcaagtgatt cttgtgcctc agcctcctga
     2161 gtagctggga ttataggcat gcaccaccat gcccagctaa ttttgtattt ttattagaga
     2221 cagggtttct ccgtgttggt caggctggtc tcaaactcct gacctcaggt gatctgcctg
     2281 tcttggcctc cggcgtaaca ctttttaaga ccagtgtaac agaaagagaa tgtagccatt
     2341 ctagccaccg ttaaaagata cacagtgagg tgttgtgttt tgttttttta atgatgaaaa
     2401 gttacacatt ttttggagag aaaagtctta gctgaaggta aatcaatgga aaaatgaaat
     2461 ttatttttaa tattactact atatgaatta tcttttttta aacttgtaga taaaagtgtt
     2521 ccagtaatca gaaaatcctc aagaaaattg acttcattat ttggaaggaa aattagtatt
     2581 ttttttaata ttatatggac catctgatta tattttattt attcatctat ttatggtatg
     2641 tatgtataat tctatattac actgtcaaat ataaaatatt gttatatgag tagaaatcac
     2701 ttaaattttt tttgtgtttg tgaatttgaa acagtgtaag aaatcacttt taagaaaaca
     2761 tttttagaat tcctttgttt tttttttttt tctttttgaa acagggtctc actctattgc
     2821 ccaggctgga gtgcactggc gtgatctcgg ctcactgcac cttctgccta ccgagttcaa
     2881 gcgattcttg tgcttcagcc tcctgagtag ctgggactat aggcctgtac cgtcatgcct
     2941 ggctaatttt tgtatttttg tagagacagg gtttcaccat gttgcccagt ctgttctcaa
     3001 actcgtgagc taaagctact cgcccacctg gatgtcccaa agtgctagat tccatgggtg
     3061 agtcaccatg cttggccaca tttttagtat tctaataaac agttggtcat cagaacttta
     3121 aaatggtagc ctacagaaac atacaatttt gaatttaaca gagtttcagt aaatatttcc
     3181 agaattaatg aagcatgtta gctttaattt tttcaattgt gagagaagta catttataaa
     3241 aattaagagg ttaagaggtt atagttataa gggaaaaaac ttctgtatcg attaactcct
     3301 aaaatatcag taccagcatg gaattatagc accaccttgt ggttaacatg ccagtatttt
     3361 accttttgtt aaaacaagtg atttcccatc aaacaggata atattttttc ccttttgaaa
     3421 aattcaattt taaaaagaaa catttttgaa gttttcttat ggaagataga aaaaaagtta
     3481 agtctctttc taccctttct ttttttcttt atatagtgca gatatacaca cagagaaggg
     3541 acttaaaaca tttctaatct cctagtttat atacagtgtg caaaatataa gtaagtatat
     3601 attgaaaata taaaatattt catatatgtt atcaggtgga aatttagaat ccaaattttc
     3661 ttaaacttta ataacttgtc taacaactct ctaataggga ctaaaaatca actcaatata
     3721 tcatacattt acacttacaa agagtcttta tctagacaac ataatttttg gaaaaataaa
     3781 gcaaattcaa ctttattgga gttattggac agatcagcaa attgttattt taaaaagttt
     3841 tcttgtttag gcaatttggt aagtggtttc tagttataaa ctagccactg ttgattaact
     3901 tgagaaggtg aagcagggga gttctgaaga gattacctag agctacataa ccctaagtta
     3961 agtaaaattt tcactttcat tcttttcatt ctctcataaa ctggttgaaa aaacactgta
     4021 ctaccaacaa aggtgtcagt tgcttgtgct gccctgtcta tgttatgctc tgaataggtc
     4081 tcggtaaaga ttatatggaa atactataaa gaatacataa ggtaaaatac tagtcagaaa
     4141 gggttcagaa gaagttagca tcaactgtat gaaaattcta ggtaaagcta agtactattg
     4201 agttggaaaa aagtaattct atcatgtttg cttgttttcc tctactgttt ttaatgtgat
     4261 gttgtaatat attttaaaaa taaaacttga aaacgttg
//
LOCUS       NM_001040159            2884 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens SPARC (osteonectin), cwcv and kazal like domains
            proteoglycan 3 (SPOCK3), transcript variant 1, mRNA.
ACCESSION   NM_001040159
VERSION     NM_001040159.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2884)
  AUTHORS   Luo J, Lai C, Xu X, Shi J, Hu J, Guo K, Mulati Y, Xiao Y, Kong D,
            Liu C and Xu K.
  TITLE     Mechanism of prognostic marker SPOCK3 affecting malignant
            progression of prostate cancer and construction of prognostic model
  JOURNAL   BMC Cancer 23 (1), 741 (2023)
   PUBMED   37563543
  REMARK    GeneRIF: Mechanism of prognostic marker SPOCK3 affecting malignant
            progression of prostate cancer and construction of prognostic model.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2884)
  AUTHORS   Debette S, Ibrahim Verbaas CA, Bressler J, Schuur M, Smith A, Bis
            JC, Davies G, Wolf C, Gudnason V, Chibnik LB, Yang Q, deStefano AL,
            de Quervain DJ, Srikanth V, Lahti J, Grabe HJ, Smith JA, Priebe L,
            Yu L, Karbalai N, Hayward C, Wilson JF, Campbell H, Petrovic K,
            Fornage M, Chauhan G, Yeo R, Boxall R, Becker J, Stegle O, Mather
            KA, Chouraki V, Sun Q, Rose LM, Resnick S, Oldmeadow C, Kirin M,
            Wright AF, Jonsdottir MK, Au R, Becker A, Amin N, Nalls MA, Turner
            ST, Kardia SL, Oostra B, Windham G, Coker LH, Zhao W, Knopman DS,
            Heiss G, Griswold ME, Gottesman RF, Vitart V, Hastie ND, Zgaga L,
            Rudan I, Polasek O, Holliday EG, Schofield P, Choi SH, Tanaka T, An
            Y, Perry RT, Kennedy RE, Sale MM, Wang J, Wadley VG, Liewald DC,
            Ridker PM, Gow AJ, Pattie A, Starr JM, Porteous D, Liu X, Thomson R,
            Armstrong NJ, Eiriksdottir G, Assareh AA, Kochan NA, Widen E,
            Palotie A, Hsieh YC, Eriksson JG, Vogler C, van Swieten JC, Shulman
            JM, Beiser A, Rotter J, Schmidt CO, Hoffmann W, Nothen MM, Ferrucci
            L, Attia J, Uitterlinden AG, Amouyel P, Dartigues JF, Amieva H,
            Raikkonen K, Garcia M, Wolf PA, Hofman A, Longstreth WT Jr, Psaty
            BM, Boerwinkle E, DeJager PL, Sachdev PS, Schmidt R, Breteler MM,
            Teumer A, Lopez OL, Cichon S, Chasman DI, Grodstein F, Muller-Myhsok
            B, Tzourio C, Papassotiropoulos A, Bennett DA, Ikram MA, Deary IJ,
            van Duijn CM, Launer L, Fitzpatrick AL, Seshadri S and Mosley TH Jr.
  CONSRTM   Cohorts for Heart and Aging Research in Genomic Epidemiology
            Consortium
  TITLE     Genome-wide studies of verbal declarative memory in nondemented
            older people: the Cohorts for Heart and Aging Research in Genomic
            Epidemiology consortium
  JOURNAL   Biol Psychiatry 77 (8), 749-763 (2015)
   PUBMED   25648963
  REMARK    GeneRIF: associations, near SPOCK3 were identified and other
            putative modulators of memory performance were revealed by a
REFERENCE   3  (bases 1 to 2884)
  AUTHORS   Weber H, Scholz CJ, Jacob CP, Heupel J, Kittel-Schneider S, Erhardt
            A, Hempel S, Schmidt B, Kiel T, Gessner A, Lesch KP and Reif A.
  TITLE     SPOCK3, a risk gene for adult ADHD and personality disorders
  JOURNAL   Eur Arch Psychiatry Clin Neurosci 264 (5), 409-421 (2014)
   PUBMED   24292267
  REMARK    GeneRIF: The results of this study suggest that SPOCK3 may modify
            the genetic risk for Attention-deficit/hyperactivity disorder and
            personality disorders
REFERENCE   4  (bases 1 to 2884)
  AUTHORS   Kennedy RB, Ovsyannikova IG, Pankratz VS, Haralambieva IH, Vierkant
            RA and Poland GA.
  TITLE     Genome-wide analysis of polymorphisms associated with cytokine
            responses in smallpox vaccine recipients
  JOURNAL   Hum Genet 131 (9), 1403-1421 (2012)
   PUBMED   22610502
REFERENCE   5  (bases 1 to 2884)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   6  (bases 1 to 2884)
  AUTHORS   Kamioka M, Imamura J, Komatsu N, Daibata M and Sugiura T.
  TITLE     Testican 3 expression in adult T-cell leukemia
  JOURNAL   Leuk Res 33 (7), 913-918 (2009)
   PUBMED   19144404
  REMARK    GeneRIF: High expression of testican 3 is associated with adult
            T-cell leukemia.
REFERENCE   7  (bases 1 to 2884)
  AUTHORS   Nakada M, Miyamori H, Yamashita J and Sato H.
  TITLE     Testican 2 abrogates inhibition of membrane-type matrix
            metalloproteinases by other testican family proteins
  JOURNAL   Cancer Res 63 (12), 3364-3369 (2003)
   PUBMED   12810672
REFERENCE   8  (bases 1 to 2884)
  AUTHORS   Nakada M, Yamada A, Takino T, Miyamori H, Takahashi T, Yamashita J
            and Sato H.
  TITLE     Suppression of membrane-type 1 matrix metalloproteinase
            (MMP)-mediated MMP-2 activation and tumor invasion by testican 3 and
            its splicing variant gene product, N-Tes
  JOURNAL   Cancer Res 61 (24), 8896-8902 (2001)
   PUBMED   11751414
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.54445.1,
            SRR1660803.106898.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000357545.9/ ENSP00000350153.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC003017.1 and AC020599.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001040159.1.
            Summary: This gene encodes a member of a novel family of
            calcium-binding proteoglycan proteins that contain thyroglobulin
            type-1 and Kazal-like domains. The encoded protein and may play a
            role in adult T-cell leukemia by inhibiting the activity of
            membrane-type matrix metalloproteinases. Alternatively spliced
            transcript variants encoding multiple isoforms have been observed
            for this gene. [provided by RefSeq, Oct 2011].
            Transcript Variant: This variant (1) lacks an alternate in-frame
            exon compared to variant 2. The resulting isoform (1) has the same
            N- and C-termini but is shorter compared to isoform 2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2884
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.3"
     gene            1..2884
                     /gene="SPOCK3"
                     /gene_synonym="HSAJ1454; TES-3; TICN3"
                     /note="SPARC (osteonectin), cwcv and kazal like domains
                     proteoglycan 3"
                     /db_xref="GeneID:50859"
                     /db_xref="HGNC:HGNC:13565"
                     /db_xref="MIM:607989"
     CDS             46..1347
                     /gene="SPOCK3"
                     /gene_synonym="HSAJ1454; TES-3; TICN3"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; sparc/osteonectin, cwcv and kazal-like domains
                     proteoglycan (testican) 3; SPARC/osteonectin, cwcv and
                     kazal like domains proteoglycan 3"
                     /codon_start=1
                     /product="testican-3 isoform 1 precursor"
                     /protein_id="NP_001035249.1"
                     /db_xref="CCDS:CCDS34095.1"
                     /db_xref="GeneID:50859"
                     /db_xref="HGNC:HGNC:13565"
                     /db_xref="MIM:607989"
                     /translation="MLKVSAVLCVCAAAWCSQSLAAAAAVAAAGGRSDGGNFLDDKQWL
                     TTISQYDKEVGQWNKFRDDDYFRTWSPGKPFDQALDPAKDPCLKMKCSRHKVCIAQDSQ
                     TAVCISHRRLTHRMKEAGVDHRQWRGPILSTCKQCPVVYPSPVCGSDGHTYSFQCKLEY
                     QACVLGKQISVKCEGHCPCPSDKPTSTSRNVKRACSDLEFREVANRLRDWFKALHESGS
                     QNKKTKTLLRPERSRFDTSILPICKDSLGWMFNRLDTNYDLLLDQSELRSIYLDKNEQC
                     TKAFFNSCDTYKDSLISNNEWCYCFQRQQDPPCQTELSNIQKRQGVKKLLGQYIPLCDE
                     DGYYKPTQCHGSVGQCWCVDRYGNEVMGSRINGVADCAIDFEISGDFASGDFHEWTDDE
                     DDEDDIMNDEDEIEDDDEDEGDDDDGGDDHDVYI"
     sig_peptide     46..108
                     /gene="SPOCK3"
                     /gene_synonym="HSAJ1454; TES-3; TICN3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     109..1344
                     /gene="SPOCK3"
                     /gene_synonym="HSAJ1454; TES-3; TICN3"
                     /product="testican-3 isoform 1"
     misc_feature    1195..1197
                     /gene="SPOCK3"
                     /gene_synonym="HSAJ1454; TES-3; TICN3"
                     /note="O-linked (Xyl...) (glycosaminoglycan) serine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9BQ16.2); glycosylation site"
     misc_feature    1210..1212
                     /gene="SPOCK3"
                     /gene_synonym="HSAJ1454; TES-3; TICN3"
                     /note="O-linked (Xyl...) (glycosaminoglycan) serine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9BQ16.2); glycosylation site"
     misc_feature    1213..1344
                     /gene="SPOCK3"
                     /gene_synonym="HSAJ1454; TES-3; TICN3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQ16.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2863..2868
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPOCK3"
                     /gene_synonym="HSAJ1454; TES-3; TICN3"
                     /note="hexamer: AATAAA"
     polyA_site      2884
                     /gene="SPOCK3"
                     /gene_synonym="HSAJ1454; TES-3; TICN3"
                     /note="major polyA site"
ORIGIN
        1 gcatttccag caggagctgc gagcacagtg ctggctcaca acaagatgct caaggtgtca
       61 gccgtactgt gtgtgtgtgc agccgcttgg tgcagtcagt ctctcgcagc tgccgcggcg
      121 gtggctgcag ccggggggcg gtcggacggc ggtaattttc tggatgataa acaatggctc
      181 accacaatct ctcagtatga caaggaagtc ggacagtgga acaaattccg agacgatgat
      241 tatttccgca cttggagtcc aggaaaaccc ttcgatcagg ctttagatcc agctaaggat
      301 ccatgcttaa agatgaaatg tagtcgccat aaagtatgca ttgctcaaga ttctcagact
      361 gcagtctgca ttagtcaccg gaggcttaca cacaggatga aagaagcagg agtagaccat
      421 aggcagtgga ggggtcccat attatccacc tgcaagcagt gcccagtggt ctatcccagc
      481 cctgtttgtg gttcagatgg tcatacctac tcttttcagt gcaaactaga atatcaggca
      541 tgtgtcttag gaaaacagat ctcagtcaaa tgtgaaggac attgcccatg tccttcagat
      601 aagcccacca gtacaagcag aaatgttaag agagcatgca gtgacctgga gttcagggaa
      661 gtggcaaaca gattgcggga ctggttcaag gcccttcatg aaagtggaag tcaaaacaag
      721 aagacaaaaa cattgctgag gcctgagaga agcagattcg ataccagcat cttgccaatt
      781 tgcaaggact cacttggctg gatgtttaac agacttgata caaactatga cctgctattg
      841 gaccagtcag agctcagaag catttacctt gataagaatg aacagtgtac caaggcattc
      901 ttcaattctt gtgacacata caaggacagt ttaatatcta ataatgagtg gtgctactgc
      961 ttccagagac agcaagaccc accttgccag actgagctca gcaatattca gaagcggcaa
     1021 ggggtaaaga agctcctagg acagtatatc cccctgtgtg atgaagatgg ttactacaag
     1081 ccaacacaat gtcatggcag tgttggacag tgctggtgtg ttgacagata tggaaatgaa
     1141 gtcatgggat ccagaataaa tggtgttgca gattgtgcta tagattttga gatctccgga
     1201 gattttgcta gtggcgattt tcatgaatgg actgatgatg aggatgatga agacgatatt
     1261 atgaatgatg aagatgaaat tgaagatgat gatgaagatg aaggggatga tgatgatggt
     1321 ggtgatgacc atgatgtata catttgattg atgacagttg aaatcaataa attctacatt
     1381 tctaatattt acaaaaatga tagcctattt aaaattatct tcttccccaa taacaaaatg
     1441 attctaaacc tcacatatat tttgtataat tatttgaaaa attgcagcta aagttataga
     1501 actttatgtt taaataagaa tcatttgctt tgagttttta tattccttac acaaaaagaa
     1561 aatacatatg cagtctagtc agacaaaata aagttttgaa gtgctactat aataagtttt
     1621 tcacgagaac aaactttgta aatcttccat aagcaaaatg acagctagtg cttgggatcg
     1681 tacatgttaa ttttctgaaa gataattcta agtgaaattt aaaataaata aatttttaat
     1741 gacctgggtc ttaaggattt aggaaaaata tgcatgcttt aattgcattt ccaaagtagc
     1801 atcttgctag acctagttga gtcaggataa cagagagata ccacatggca agaaaaacaa
     1861 agtgacaatt gtagagtcct caattgtgtt tacattaata gtggtgtttt tacctatgaa
     1921 attattctgg atctaatagg acattttaca aaatggcaag tatggaaaac catggattct
     1981 gaaagttaaa aatttagttg ttctccccaa tgtgtatttt aatttggatg gcagtctcat
     2041 gcagattttt taaaagattc tttaataaca tgatttgttt gcctttctag atttctttat
     2101 ctttctgacc agcaacttag ggagcagaat ttaaattagg aagacaaagg gaaagattca
     2161 tttaaaccat atttttacaa agtttgtcat ttgccccaag gtcaaatttt aaattcttaa
     2221 ttttcatttt atttcccatt ttaggtaaaa gtttgcattt aatcttagaa ttatgttatt
     2281 tttgttagta gtgtggaaac ttagagaact tattgtatgg tgccttgcaa aaatagagat
     2341 agaaagattt tagcatgcat accaatatag tatattacgc aatatataag cacacctaat
     2401 taacagatta atatcagtaa aggtattgct gctggaatga agaaaatggg atacgtttgt
     2461 ttcttttttt ctattgttac ataattgcca tgtggacttg tttatgatta ttgtgtagag
     2521 tagcatttaa gatttaactg tagcaaaaat tactttaacc gctgtattta agttagcatg
     2581 ttaattaatt gtgtagacat tttggcacac catcactttt aactatatca taccaatggt
     2641 tttgtgccca taataaaaat ggaaaaacct gttgaatgtt acgtattggt atctttaatt
     2701 tcaacagtgg gtaaactggt ttcccagtat acaattcatt gaaagcaaaa ttgattaatt
     2761 atttccattt aatttataca cactcaatac aaaatttaat gttgacttta cgtaataaag
     2821 tataatgcat tttctttttt actgtttatg tatagtttac aaaataaaga atcttgtaac
     2881 caaa
//
LOCUS       NM_001040167            2445 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens LFNG O-fucosylpeptide
            3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1,
            mRNA.
ACCESSION   NM_001040167
VERSION     NM_001040167.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2445)
  AUTHORS   Lecca M, Bedeschi MF, Izzi C, Dordoni C, Rinaldi B, Peluso F,
            Caraffi SG, Prefumo F, Signorelli M, Zanzucchi M, Bione S, Ghigna C,
            Sassi S, Novelli A, Valente EM, Superti-Furga A, Garavelli L and
            Errichiello E.
  TITLE     Identification of bi-allelic LFNG variants in three patients and
            further clinical and molecular refinement of spondylocostal
            dysostosis 3
  JOURNAL   Clin Genet 104 (2), 230-237 (2023)
   PUBMED   37038048
  REMARK    GeneRIF: Identification of bi-allelic LFNG variants in three
            patients and further clinical and molecular refinement of
            spondylocostal dysostosis 3.
REFERENCE   2  (bases 1 to 2445)
  AUTHORS   Suzuki S, Hiura S, Mashiko T, Matsumoto T and Itoh M.
  TITLE     Lunatic fringe promotes the aggregation of CADASIL NOTCH3 mutant
            proteins
  JOURNAL   Biochem Biophys Res Commun 557, 302-308 (2021)
   PUBMED   33894418
  REMARK    GeneRIF: Lunatic fringe promotes the aggregation of CADASIL NOTCH3
            mutant proteins.
REFERENCE   3  (bases 1 to 2445)
  AUTHORS   Barua R, Mizuno K, Tashima Y, Ogawa M, Takeuchi H, Taguchi A and
            Okajima T.
  TITLE     Bioinformatics and Functional Analyses Implicate Potential Roles for
            EOGT and L-fringe in Pancreatic Cancers
  JOURNAL   Molecules 26 (4), 882 (2021)
   PUBMED   33562410
  REMARK    GeneRIF: Bioinformatics and Functional Analyses Implicate Potential
            Roles for EOGT and L-fringe in Pancreatic Cancers. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 2445)
  AUTHORS   Otomo N, Mizumoto S, Lu HF, Takeda K, Campos-Xavier B,
            Mittaz-Crettol L, Guo L, Takikawa K, Nakamura M, Yamada S, Matsumoto
            M, Watanabe K and Ikegawa S.
  TITLE     Identification of novel LFNG mutations in spondylocostal dysostosis
  JOURNAL   J Hum Genet 64 (3), 261-264 (2019)
   PUBMED   30531807
  REMARK    GeneRIF: LFNG mutation is associated with spondylocostal dysostosis.
REFERENCE   5  (bases 1 to 2445)
  AUTHORS   Moloney DJ, Panin VM, Johnston SH, Chen J, Shao L, Wilson R, Wang Y,
            Stanley P, Irvine KD, Haltiwanger RS and Vogt TF.
  TITLE     Fringe is a glycosyltransferase that modifies Notch
  JOURNAL   Nature 406 (6794), 369-375 (2000)
   PUBMED   10935626
REFERENCE   6  (bases 1 to 2445)
  AUTHORS   Moran JL, Johnston SH, Rauskolb C, Bhalerao J, Bowcock AM and Vogt
            TF.
  TITLE     Genomic structure, mapping, and expression analysis of the mammalian
            Lunatic, Manic, and Radical fringe genes
  JOURNAL   Mamm Genome 10 (6), 535-541 (1999)
   PUBMED   10341080
REFERENCE   7  (bases 1 to 2445)
  AUTHORS   Egan S, Herbrick JA, Tsui LC, Cohen B, Flock G, Beatty B and Scherer
            SW.
  TITLE     Mapping of the human Lunatic Fringe (LFNG) gene to 7p22 and Manic
            Fringe (MFNG) to 22q12
  JOURNAL   Genomics 54 (3), 576-577 (1998)
   PUBMED   9878264
REFERENCE   8  (bases 1 to 2445)
  AUTHORS   Johnston SH, Rauskolb C, Wilson R, Prabhakaran B, Irvine KD and Vogt
            TF.
  TITLE     A family of mammalian Fringe genes implicated in boundary
            determination and the Notch pathway
  JOURNAL   Development 124 (11), 2245-2254 (1997)
   PUBMED   9187150
REFERENCE   9  (bases 1 to 2445)
  AUTHORS   Turnpenny,P.D., Sloman,M. and Dunwoodie,S.
  TITLE     Spondylocostal Dysostosis, Autosomal Recessive
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301771
REFERENCE   10  (bases 1 to 2445)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301533
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000222725.10/ ENSP00000222725.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092488.3, U94354.1,
            BC014851.1 and BM854210.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001040167.1.
            Summary: This gene is a member of the glycosyltransferase 31 gene
            family. Members of this gene family, which also includes the MFNG
            (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily
            conserved glycosyltransferases that act in the Notch signaling
            pathway to define boundaries during embryonic development. While
            their genomic structure is distinct from other
            glycosyltransferases, these proteins have a fucose-specific
            beta-1,3-N-acetylglucosaminyltransferase activity that leads to
            elongation of O-linked fucose residues on Notch, which alters Notch
            signaling. The protein encoded by this gene is predicted to be a
            single-pass type II Golgi membrane protein but it may also be
            secreted and proteolytically processed like the related proteins in
            mouse and Drosophila (PMID: 9187150). Mutations in this gene have
            been associated with autosomal recessive spondylocostal dysostosis
            3. [provided by RefSeq, May 2018].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2445
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     gene            1..2445
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /note="LFNG O-fucosylpeptide
                     3-beta-N-acetylglucosaminyltransferase"
                     /db_xref="GeneID:3955"
                     /db_xref="HGNC:HGNC:6560"
                     /db_xref="MIM:602576"
     CDS             89..1228
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /EC_number="2.4.1.222"
                     /note="isoform a precursor is encoded by transcript variant
                     1; beta-1,3-N-acetylglucosaminyltransferase lunatic fringe"
                     /codon_start=1
                     /product="beta-1,3-N-acetylglucosaminyltransferase lunatic
                     fringe isoform a precursor"
                     /protein_id="NP_001035257.1"
                     /db_xref="CCDS:CCDS34587.1"
                     /db_xref="GeneID:3955"
                     /db_xref="HGNC:HGNC:6560"
                     /db_xref="MIM:602576"
                     /translation="MLKRCGRRLLLALAGALLACLLVLTADPPPPPLPAERGRRALRSL
                     AGPAGAAPAPGLGAAAAAPGALVRDVHSLSEYFSLLTRARRDAGPPPGAAPRPADGHPR
                     PLAEPLAPRDVFIAVKTTKKFHRARLDLLLETWISRHKEMTFIFTDGEDEALARHTGNV
                     VITNCSAAHSRQALSCKMAVEYDRFIESGRKWFCHVDDDNYVNLRALLRLLASYPHTRD
                     VYVGKPSLDRPIQAMERVSENKVRPVHFWFATGGAGFCISRGLALKMSPWASGGHFMNT
                     AERIRLPDDCTIGYIVEALLGVPLIRSGLFHSHLENLQQVPTSELHEQVTLSYGMFENK
                     RNAVHVKGPFSVEADPSRFRSIHCHLYPDTPWCPRTAIF"
     sig_peptide     89..163
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    113..175
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NES3.2);
                     transmembrane region"
     misc_feature    344..409
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NES3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    344..349
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /note="Cleavage, by furin-like protease.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NES3.2); cleavage site"
     misc_feature    587..589
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NES3.2); glycosylation site"
     regulatory      2423..2428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /note="hexamer: AATAAA"
     polyA_site      2445
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /note="major polyA site"
ORIGIN
        1 gctggactgc gccgccggag cgacgggctt cgggtcggtg caaggcaggc gcacggggaa
       61 gggcgcgccg cgcggccgcc accccaccat gctcaagcgc tgcggccggc gcctgctgct
      121 ggcgctggcg ggcgcgctgc tcgcctgcct gctggtgctc accgccgacc cgccgccgcc
      181 tccactgccc gccgagcgcg gccggcgcgc gctgcgcagc ctggcgggcc ccgcgggggc
      241 tgccccggcg cccgggctgg gggcggcggc ggcggcgccc ggggcgctgg tccgcgacgt
      301 gcacagtctg tccgagtact tcagcctgct cacccgcgcg cgcagagatg cgggcccgcc
      361 gcccggggct gccccccgcc ccgccgacgg ccacccgcgc cccctggccg agccgctcgc
      421 gccccgagac gtcttcatcg ctgtcaagac caccaaaaag ttccaccgcg cgcgcctcga
      481 cctgctgctg gagacctgga tctcgcgcca caaggagatg acgttcatct tcactgacgg
      541 ggaagatgag gccctggcca ggcacacggg caacgtggtc atcacaaact gctcggccgc
      601 ccacagccgc caggcgctgt cctgcaagat ggccgtggag tatgaccgct tcatcgagtc
      661 cggcaggaag tggttctgcc acgtggacga tgacaactac gtcaacctgc gggccctgct
      721 gcggctgctg gccagctacc cgcacacgcg ggacgtctac gtcggcaagc ccagcctgga
      781 caggcccatc caggccatgg agcgggtcag cgagaacaag gtgcgtcctg tccacttctg
      841 gtttgccacg ggcggcgctg gcttctgcat cagccgtggg ctggctctga agatgagccc
      901 gtgggccagc gggggtcact tcatgaatac ggctgagcgg atccggctgc ctgatgactg
      961 caccatcggc tacatcgtgg aggccctgct gggtgtgccc ctcatccgca gcggcctctt
     1021 ccactcccac ctggagaacc tgcagcaggt gcccacctcg gagctccacg agcaggtgac
     1081 gctgagctac ggtatgtttg aaaacaagcg gaacgccgtc cacgtgaagg ggcccttctc
     1141 ggtggaggcc gacccatcca ggttccgctc catccactgc cacctgtacc cggacacacc
     1201 ctggtgtccc cgcactgcca tcttctagtg gccatggctg agacccaatc cctgggcgcc
     1261 cctggtatcc aaagggccca gggaccctgt tgcgctgccc tggcctcggc attcgaggct
     1321 cccctagggc cgtgcctgtg cgtgtgcgtg tgcgtgtgtg tgtgtgtgta ctgcatgccc
     1381 acccgggtag caggctgctg ggcagttctg ctctgtggag gggcgggcac cagcgccact
     1441 tatgtgcctc tgctccgagg gccagtgggc tgcagggcct gcttggagga aggatttgtg
     1501 tgtcggaggc cactccgagg gcaattctgt taggattttt ggatctttct acagctacgg
     1561 ggctccgggc tactttgcag ggatgcgatg cgtaggtgcc tttctcttcc tgctgaccac
     1621 aagctctgtg ctgggggtac ctgtgccctg aagtcctggc ccctgtgtca tagccccaag
     1681 tacgactcac tgagccatgc tcattgcagg ggaggctggg tctgggggtg cgtgacccaa
     1741 tccccttcct cctggcctgg acgctgtggc ttaagagtaa cagcagccac cgcccagttc
     1801 cagtggcccc acgaagcccc cagtggctgg ctgtccagct gggcaaacag tggcacccct
     1861 cccagctctt ctgagtgggg agtcttccag gcctcctcag aggtcttccc tttgcctccc
     1921 caggacaggg tgagtcagag ctcagcattt aatctcctct ccaaagtaga gagcaagtcg
     1981 cccacagtgg gcgtgtctgt aaatattgtg acagtatttt tttactgtgc tgtttttttt
     2041 gaaaggggat gggtaaaaag tagggtgttc ttgttttttg cttgggaggg tgggggtggg
     2101 ggagggtctt attttatctt atcttttctg tggatcagaa aaaacagaag ccaaactcgg
     2161 ggtcatcttt gtttttaaag ctgaagtggg actgtctggc actctgtgta tttatgcgtt
     2221 ccagcatctg gaacctccca tccctgccct cctcctgtgt agctgccacc tccccgctgg
     2281 gcccagcatg gctcacctgt cccgtgggct gtgtttcttg ttgtttttct ctttgcaaag
     2341 acatagctag gaaagcgaat gataagggaa aagttctcag ggaattgaag tgttgttgct
     2401 atggtgacgt ccttttgctg tgaataaagg tgctctttgc agcaa
//
LOCUS       NM_001040177            1613 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens aldo-keto reductase family 1 member E2 (AKR1E2),
            transcript variant 1, mRNA.
ACCESSION   NM_001040177
VERSION     NM_001040177.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1613)
  AUTHORS   Bunyavanich,S., Schadt,E.E., Himes,B.E., Lasky-Su,J., Qiu,W.,
            Lazarus,R., Ziniti,J.P., Cohain,A., Linderman,M., Torgerson,D.G.,
            Eng,C.S., Pino-Yanes,M., Padhukasahasram,B., Yang,J.J.,
            Mathias,R.A., Beaty,T.H., Li,X., Graves,P., Romieu,I., Navarro
            Bdel,R., Salam,M.T., Vora,H., Nicolae,D.L., Ober,C., Martinez,F.D.,
            Bleecker,E.R., Meyers,D.A., Gauderman,W.J., Gilliland,F.,
            Burchard,E.G., Barnes,K.C., Williams,L.K., London,S.J., Zhang,B.,
            Raby,B.A. and Weiss,S.T.
  TITLE     Integrated genome-wide association, coexpression network, and
            expression single nucleotide polymorphism analysis identifies novel
            pathway in allergic rhinitis
  JOURNAL   BMC Med Genomics 7, 48 (2014)
   PUBMED   25085501
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1613)
  AUTHORS   Yang F, Chen XD, Tan LJ, Shen J, Li DY, Zhang F, Sha BY and Deng HW.
  TITLE     Genome wide association study: searching for genes underlying body
            mass index in the Chinese
  JOURNAL   Biomed Environ Sci 27 (5), 360-370 (2014)
   PUBMED   24827717
REFERENCE   3  (bases 1 to 1613)
  AUTHORS   Orvedahl A, Sumpter R Jr, Xiao G, Ng A, Zou Z, Tang Y, Narimatsu M,
            Gilpin C, Sun Q, Roth M, Forst CV, Wrana JL, Zhang YE, Luby-Phelps
            K, Xavier RJ, Xie Y and Levine B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   4  (bases 1 to 1613)
  AUTHORS   Clancy RM, Marion MC, Kaufman KM, Ramos PS, Adler A, Harley JB,
            Langefeld CD and Buyon JP.
  CONSRTM   International Consortium on Systemic Lupus Erythematosus Genetics
  TITLE     Identification of candidate loci at 6p21 and 21q22 in a genome-wide
            association study of cardiac manifestations of neonatal lupus
  JOURNAL   Arthritis Rheum 62 (11), 3415-3424 (2010)
   PUBMED   20662065
REFERENCE   5  (bases 1 to 1613)
  AUTHORS   Mindnich RD and Penning TM.
  TITLE     Aldo-keto reductase (AKR) superfamily: genomics and annotation
  JOURNAL   Hum Genomics 3 (4), 362-370 (2009)
   PUBMED   19706366
  REMARK    Review article
REFERENCE   6  (bases 1 to 1613)
  AUTHORS   Azuma Y, Nishinaka T, Ushijima S, Soh J, Katsuyama M, Lu HP, Kawata
            M, Yabe-Nishimura C and Miki T.
  TITLE     Characterization of htAKR, a novel gene product in the aldo-keto
            reductase family specifically expressed in human testis
  JOURNAL   Mol Hum Reprod 10 (7), 527-533 (2004)
   PUBMED   15118078
  REMARK    GeneRIF: results indicate that the expression of human testis
            aldo-keto reductase, down-regulated in the testicular tumour, is
            possibly controlled by mitogenic and hormonal signals
REFERENCE   7  (bases 1 to 1613)
  AUTHORS   Nishinaka T, Azuma Y, Ushijima S, Miki T and Yabe-Nishimura C.
  TITLE     Human testis specific protein: a new member of aldo-keto reductase
            superfamily
  JOURNAL   Chem Biol Interact 143-144, 299-305 (2003)
   PUBMED   12604216
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF263242.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000298375.12/ ENSP00000298375.7
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI756016.1, DA006578.1,
            AF263242.1 and BU741321.1.
            On Nov 23, 2018 this sequence version replaced NM_001040177.2.
            Summary: The protein encoded by this gene is a member of the
            aldo-keto reductase superfamily. Members in this family are
            characterized by their structure (evolutionarily highly conserved
            TIM barrel) and function (NAD(P)H-dependent oxido-reduction of
            carbonyl groups). Transcripts of this gene have been reported in
            specimens of human testis. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Aug 2012].
            Transcript Variant: This variant (1) encodes isoform 1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1613
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p15.1"
     gene            1..1613
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /note="aldo-keto reductase family 1 member E2"
                     /db_xref="GeneID:83592"
                     /db_xref="HGNC:HGNC:23437"
                     /db_xref="MIM:617451"
     CDS             119..1081
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /EC_number="1.1.1.263"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aldo-keto reductase family 1, member C-like 2; aldo-keto
                     reductase loopADR; 1,5-anhydro-D-fructose reductase; AF
                     reductase; testis-specific protein; aldo-keto reductase
                     family 1 member C-like protein 2; testis aldo-keto
                     reductase; human testis specific protein; human testis
                     aldo-keto reductase"
                     /codon_start=1
                     /product="1,5-anhydro-D-fructose reductase isoform 1"
                     /protein_id="NP_001035267.1"
                     /db_xref="CCDS:CCDS31134.1"
                     /db_xref="GeneID:83592"
                     /db_xref="HGNC:HGNC:23437"
                     /db_xref="MIM:617451"
                     /translation="MGDIPAVGLSSWKASPGKVTEAVKEAIDAGYRHFDCAYFYHNERE
                     VGAGIRCKIKEGAVRREDLFIATKLWCTCHKKSLVETACRKSLKALKLNYLDLYLIHWP
                     MGFKPPHPEWIMSCSELSFCLSHPRVQDLPLDESNMVIPSDTDFLDTWEAMEDLVITGL
                     VKNIGVSNFNHEQLERLLNKPGLRFKPLTNQIECHPYLTQKNLISFCQSRDVSVTAYRP
                     LGGSCEGVDLIDNPVIKRIAKEHGKSPAQILIRFQIQRNVIVIPGSITPSHIKENIQVF
                     DFELTQHDMDNILSLNRNLRLAMFPITKNHKDYPFHIEY"
     misc_feature    323..325
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /note="Lowers pKa of active site Tyr.
                     /evidence=ECO:0000250|UniProtKB:P14550; propagated from
                     UniProtKB/Swiss-Prot (Q96JD6.2); other site"
     regulatory      1585..1590
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /note="hexamer: AATAAA"
     polyA_site      1613
                     /gene="AKR1E2"
                     /gene_synonym="AKR1CL2; AKRDC1; htAKR; hTSP; HTSP1;
                     LoopADR; TAKR"
                     /note="major polyA site"
ORIGIN
        1 gtcacaaggc acttccagcc agtcgcaacg gcgggtcgcc agcgccgcag tagctcgcgc
       61 ggtgcctgtc ggtagtcgcg tgcggggcgg cggggcggcg gggcggccgg cggcggccat
      121 gggagatatc ccagccgtgg gcctcagctc ctggaaggct tctccaggga aagtgaccga
      181 ggcagtgaaa gaggccattg acgcagggta ccggcacttc gactgtgctt acttttacca
      241 caatgagagg gaggttggag cagggatccg ttgcaagatc aaggaaggcg ctgtaagacg
      301 ggaggatctg ttcattgcca ctaagctgtg gtgcacctgc cataagaagt ccttggtgga
      361 aacagcatgc agaaagagtc tcaaggcctt gaagctgaac tatttggacc tctacctcat
      421 acactggccc atgggtttca agcctcctca tccagaatgg atcatgagct gcagtgaact
      481 ttccttctgc ctctcacatc ctcgagtgca ggacttgcct ctggacgaga gcaacatggt
      541 tattcccagt gacacggact tcctggacac gtgggaggcc atggaggacc tggtgatcac
      601 cgggctggtg aagaacatcg gggtgtcaaa cttcaaccat gaacagcttg agaggctttt
      661 gaataagcct gggttgaggt tcaagccact aaccaaccag attgagtgcc acccatatct
      721 tactcagaag aatctgatca gtttttgcca atccagagat gtgtccgtga ctgcttaccg
      781 tcctcttggt ggctcgtgtg agggggttga cctgatagac aaccctgtga tcaagaggat
      841 tgcaaaggag cacggcaagt ctcctgctca gattttgatc cgatttcaaa tccagaggaa
      901 tgtgatagtg atccccggat ctatcacccc aagtcacatt aaagagaata tccaggtgtt
      961 tgattttgaa ttaacacagc acgatatgga taacatcctc agcctaaaca ggaatctccg
     1021 actggccatg ttccccataa ctaaaaatca caaagactat cctttccaca tagaatactg
     1081 aggacgcttc cccttccttg tttctgctca gcccagatgc acagacacta ttggcaatgt
     1141 tgaccctcct ctgtcatcac agcgccaggg cagctgtgcc tgggacagga gccacacagt
     1201 cagaggggga tgtaagagcc accttctctg acaaatctgg agaattgagt gtgttctaag
     1261 tgaaggcaat ggggtttctc caagacagcc tgtgtggcct ctactctgaa caaatacact
     1321 gatgagtcat cagtgaaatt tgccttcaca ttttaagaaa actttatctt atggagttat
     1381 ttaagccatc tacagagctg aggaaacagt gtaatgtgtc tctgccccat tgcgcagctc
     1441 cacccattgt gccccaggcc agcccgcgtc acctacactt ccttctgtgc cctgccagtg
     1501 acccccaggt tattctaaag cagagtcctt cccttccccc agtgagaagg aaaatgggat
     1561 aagtctggga cactgtttca gttcaataaa gaggcttttt tcttccttaa aaa
//
LOCUS       NM_001040179            3759 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens melanin concentrating hormone receptor 2 (MCHR2),
            transcript variant 1, mRNA.
ACCESSION   NM_001040179
VERSION     NM_001040179.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3759)
  AUTHORS   Geets E, Aerts E, Verrijken A, Van Hoorenbeeck K, Verhulst S, Van
            Gaal L and Van Hul W.
  TITLE     DNA sequencing and copy number variation analysis of MCHR2 in a
            cohort of Prader Willi like (PWL) patients
  JOURNAL   Obes Res Clin Pract 12 (2), 158-166 (2018)
   PUBMED   29066024
  REMARK    GeneRIF: results are in line with some previously performed studies
            suggesting that MCHR2 is not a major contributor to human obesity
            and the Prader Willi Syndrome phenotype
REFERENCE   2  (bases 1 to 3759)
  AUTHORS   Fischer J, Degenhardt F, Hofmann A, Redler S, Basmanav FB,
            Heilmann-Heimbach S, Hanneken S, Giehl KA, Wolff H, Moebus S, Kruse
            R, Lutz G, Blaumeiser B, Bohm M, Garcia Bartels N, Blume-Peytavi U,
            Petukhova L, Christiano AM, Nothen MM and Betz RC.
  TITLE     Genomewide analysis of copy number variants in alopecia areata in a
            Central European cohort reveals association with MCHR2
  JOURNAL   Exp Dermatol 26 (6), 536-541 (2017)
   PUBMED   27306922
  REMARK    GeneRIF: evidence for the involvement of duplications in MCHR2 in
            alopecia areata pathogenesis in a Central European cohort
REFERENCE   3  (bases 1 to 3759)
  AUTHORS   Delacretaz A, Preisig M, Vandenberghe F, Saigi Morgui N, Quteineh L,
            Choong E, Gholam-Rezaee M, Kutalik Z, Magistretti P, Aubry JM, von
            Gunten A, Castelao E, Vollenweider P, Waeber G, Conus P and Eap CB.
  TITLE     Influence of MCHR2 and MCHR2-AS1 Genetic Polymorphisms on Body Mass
            Index in Psychiatric Patients and In Population-Based Subjects with
            Present or Past Atypical Depression
  JOURNAL   PLoS One 10 (10), e0139155 (2015)
   PUBMED   26461262
  REMARK    GeneRIF: This study provides new insights on the possible influence
            of MCHR2 and/or MCHR2-AS1 on obesity in psychiatric patients and on
            the pathophysiology of atypical depression. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3759)
  AUTHORS   Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C,
            Chasman DI, Esko T, Thorleifsson G, Albrecht E, Ang WQ, Corre T,
            Cousminer DL, Feenstra B, Franceschini N, Ganna A, Johnson AD,
            Kjellqvist S, Lunetta KL, McMahon G, Nolte IM, Paternoster L, Porcu
            E, Smith AV, Stolk L, Teumer A, Tsernikova N, Tikkanen E, Ulivi S,
            Wagner EK, Amin N, Bierut LJ, Byrne EM, Hottenga JJ, Koller DL,
            Mangino M, Pers TH, Yerges-Armstrong LM, Zhao JH, Andrulis IL,
            Anton-Culver H, Atsma F, Bandinelli S, Beckmann MW, Benitez J,
            Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H,
            Buring JE, Chang-Claude J, Chanock S, Chen J, Chenevix-Trench G,
            Collee JM, Couch FJ, Couper D, Coveillo AD, Cox A, Czene K, D'adamo
            AP, Smith GD, De Vivo I, Demerath EW, Dennis J, Devilee P,
            Dieffenbach AK, Dunning AM, Eiriksdottir G, Eriksson JG, Fasching
            PA, Ferrucci L, Flesch-Janys D, Flyger H, Foroud T, Franke L, Garcia
            ME, Garcia-Closas M, Geller F, de Geus EE, Giles GG, Gudbjartsson
            DF, Gudnason V, Guenel P, Guo S, Hall P, Hamann U, Haring R, Hartman
            CA, Heath AC, Hofman A, Hooning MJ, Hopper JL, Hu FB, Hunter DJ,
            Karasik D, Kiel DP, Knight JA, Kosma VM, Kutalik Z, Lai S,
            Lambrechts D, Lindblom A, Magi R, Magnusson PK, Mannermaa A, Martin
            NG, Masson G, McArdle PF, McArdle WL, Melbye M, Michailidou K,
            Mihailov E, Milani L, Milne RL, Nevanlinna H, Neven P, Nohr EA,
            Oldehinkel AJ, Oostra BA, Palotie A, Peacock M, Pedersen NL,
            Peterlongo P, Peto J, Pharoah PD, Postma DS, Pouta A, Pylkas K,
            Radice P, Ring S, Rivadeneira F, Robino A, Rose LM, Rudolph A,
            Salomaa V, Sanna S, Schlessinger D, Schmidt MK, Southey MC, Sovio U,
            Stampfer MJ, Stockl D, Storniolo AM, Timpson NJ, Tyrer J, Visser JA,
            Vollenweider P, Volzke H, Waeber G, Waldenberger M, Wallaschofski H,
            Wang Q, Willemsen G, Winqvist R, Wolffenbuttel BH, Wright MJ,
            Boomsma DI, Econs MJ, Khaw KT, Loos RJ, McCarthy MI, Montgomery GW,
            Rice JP, Streeten EA, Thorsteinsdottir U, van Duijn CM, Alizadeh BZ,
            Bergmann S, Boerwinkle E, Boyd HA, Crisponi L, Gasparini P, Gieger
            C, Harris TB, Ingelsson E, Jarvelin MR, Kraft P, Lawlor D, Metspalu
            A, Pennell CE, Ridker PM, Snieder H, Sorensen TI, Spector TD,
            Strachan DP, Uitterlinden AG, Wareham NJ, Widen E, Zygmunt M, Murray
            A, Easton DF, Stefansson K, Murabito JM and Ong KK.
  CONSRTM   Australian Ovarian Cancer Study; GENICA Network; kConFab; LifeLines
            Cohort Study; InterAct Consortium; Early Growth Genetics (EGG)
            Consortium
  TITLE     Parent-of-origin-specific allelic associations among 106 genomic
            loci for age at menarche
  JOURNAL   Nature 514 (7520), 92-97 (2014)
   PUBMED   25231870
REFERENCE   5  (bases 1 to 3759)
  AUTHORS   Chen X, Mihalic J, Fan P, Liang L, Lindstrom M, Wong S, Ye Q, Fu Y,
            Jaen J, Chen JL, Dai K and Li L.
  TITLE     Discovery and characterization of a potent and selective antagonist
            of melanin-concentrating hormone receptor 2
  JOURNAL   Bioorg Med Chem Lett 22 (1), 363-366 (2012)
   PUBMED   22123324
  REMARK    GeneRIF: Discovery and characterization of a potent and selective
            antagonist of melanin-concentrating hormone receptor 2
REFERENCE   6  (bases 1 to 3759)
  AUTHORS   Wang S, Behan J, O'Neill K, Weig B, Fried S, Laz T, Bayne M,
            Gustafson E and Hawes BE.
  TITLE     Identification and pharmacological characterization of a novel human
            melanin-concentrating hormone receptor, mch-r2
  JOURNAL   J Biol Chem 276 (37), 34664-34670 (2001)
   PUBMED   11459838
REFERENCE   7  (bases 1 to 3759)
  AUTHORS   An S, Cutler G, Zhao JJ, Huang SG, Tian H, Li W, Liang L, Rich M,
            Bakleh A, Du J, Chen JL and Dai K.
  TITLE     Identification and characterization of a melanin-concentrating
            hormone receptor
  JOURNAL   Proc Natl Acad Sci U S A 98 (13), 7576-7581 (2001)
   PUBMED   11416225
REFERENCE   8  (bases 1 to 3759)
  AUTHORS   Sailer AW, Sano H, Zeng Z, McDonald TP, Pan J, Pong SS, Feighner SD,
            Tan CP, Fukami T, Iwaasa H, Hreniuk DL, Morin NR, Sadowski SJ, Ito
            M, Ito M, Bansal A, Ky B, Figueroa DJ, Jiang Q, Austin CP, MacNeil
            DJ, Ishihara A, Ihara M, Kanatani A, Van der Ploeg LH, Howard AD and
            Liu Q.
  TITLE     Identification and characterization of a second
            melanin-concentrating hormone receptor, MCH-2R
  JOURNAL   Proc Natl Acad Sci U S A 98 (13), 7564-7569 (2001)
   PUBMED   11404457
REFERENCE   9  (bases 1 to 3759)
  AUTHORS   Hill J, Duckworth M, Murdock P, Rennie G, Sabido-David C, Ames RS,
            Szekeres P, Wilson S, Bergsma DJ, Gloger IS, Levy DS, Chambers JK
            and Muir AI.
  TITLE     Molecular cloning and functional characterization of MCH2, a novel
            human MCH receptor
  JOURNAL   J Biol Chem 276 (23), 20125-20129 (2001)
   PUBMED   11274220
REFERENCE   10  (bases 1 to 3759)
  AUTHORS   Mori M, Harada M, Terao Y, Sugo T, Watanabe T, Shimomura Y, Abe M,
            Shintani Y, Onda H, Nishimura O and Fujino M.
  TITLE     Cloning of a novel G protein-coupled receptor, SLT, a subtype of the
            melanin-concentrating hormone receptor
  JOURNAL   Biochem Biophys Res Commun 283 (5), 1013-1018 (2001)
   PUBMED   11355873
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK123634.1, SRR1803611.134518.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA1968968
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000281806.7/ ENSP00000281806.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK123634.1 and AL590725.5.
            On Jul 12, 2019 this sequence version replaced NM_001040179.1.
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..3759
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q16.2"
     gene            1..3759
                     /gene="MCHR2"
                     /gene_synonym="GPR145; GPRv17; MCH-2R; MCH-R2; MCH2; MCH2R;
                     MCHR-2; SLT"
                     /note="melanin concentrating hormone receptor 2"
                     /db_xref="GeneID:84539"
                     /db_xref="HGNC:HGNC:20867"
                     /db_xref="MIM:606111"
     misc_feature    292..294
                     /gene="MCHR2"
                     /gene_synonym="GPR145; GPRv17; MCH-2R; MCH-R2; MCH2; MCH2R;
                     MCHR-2; SLT"
                     /note="upstream in-frame stop codon"
     CDS             316..1338
                     /gene="MCHR2"
                     /gene_synonym="GPR145; GPRv17; MCH-2R; MCH-R2; MCH2; MCH2R;
                     MCHR-2; SLT"
                     /note="melanin-concentrating hormone 2; G protein-coupled
                     receptor slt; MCH receptor 2; G-protein coupled receptor
                     145"
                     /codon_start=1
                     /product="melanin-concentrating hormone receptor 2"
                     /protein_id="NP_001035269.1"
                     /db_xref="CCDS:CCDS5044.1"
                     /db_xref="GeneID:84539"
                     /db_xref="HGNC:HGNC:20867"
                     /db_xref="MIM:606111"
                     /translation="MNPFHASCWNTSAELLNKSWNKEFAYQTASVVDTVILPSMIGIIC
                     STGLVGNILIVFTIIRSRKKTVPDIYICNLAVADLVHIVGMPFLIHQWARGGEWVFGGP
                     LCTIITSLDTCNQFACSAIMTVMSVDRYFALVQPFRLTRWRTRYKTIRINLGLWAASFI
                     LALPVWVYSKVIKFKDGVESCAFDLTSPDDVLWYTLYLTITTFFFPLPLILVCYILILC
                     YTWEMYQQNKDARCCNPSVPKQRVMKLTKMVLVLVVVFILSAAPYHVIQLVNLQMEQPT
                     LAFYVGYYLSICLSYASSSINPFLYILLSGNFQKRLPQIQRRATEKEINNMGNTLKSHF
                     "
     misc_feature    343..345
                     /gene="MCHR2"
                     /gene_synonym="GPR145; GPRv17; MCH-2R; MCH-R2; MCH2; MCH2R;
                     MCHR-2; SLT"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q969V1.1); glycosylation site"
     misc_feature    364..366
                     /gene="MCHR2"
                     /gene_synonym="GPR145; GPRv17; MCH-2R; MCH-R2; MCH2; MCH2R;
                     MCHR-2; SLT"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q969V1.1); glycosylation site"
     misc_feature    433..495
                     /gene="MCHR2"
                     /gene_synonym="GPR145; GPRv17; MCH-2R; MCH-R2; MCH2; MCH2R;
                     MCHR-2; SLT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969V1.1);
                     transmembrane region"
     misc_feature    523..585
                     /gene="MCHR2"
                     /gene_synonym="GPR145; GPRv17; MCH-2R; MCH-R2; MCH2; MCH2R;
                     MCHR-2; SLT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969V1.1);
                     transmembrane region"
     misc_feature    628..702
                     /gene="MCHR2"
                     /gene_synonym="GPR145; GPRv17; MCH-2R; MCH-R2; MCH2; MCH2R;
                     MCHR-2; SLT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969V1.1);
                     transmembrane region"
     misc_feature    778..840
                     /gene="MCHR2"
                     /gene_synonym="GPR145; GPRv17; MCH-2R; MCH-R2; MCH2; MCH2R;
                     MCHR-2; SLT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969V1.1);
                     transmembrane region"
     misc_feature    916..978
                     /gene="MCHR2"
                     /gene_synonym="GPR145; GPRv17; MCH-2R; MCH-R2; MCH2; MCH2R;
                     MCHR-2; SLT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969V1.1);
                     transmembrane region"
     misc_feature    1072..1134
                     /gene="MCHR2"
                     /gene_synonym="GPR145; GPRv17; MCH-2R; MCH-R2; MCH2; MCH2R;
                     MCHR-2; SLT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969V1.1);
                     transmembrane region"
     misc_feature    1180..1242
                     /gene="MCHR2"
                     /gene_synonym="GPR145; GPRv17; MCH-2R; MCH-R2; MCH2; MCH2R;
                     MCHR-2; SLT"
                     /note="propagated from UniProtKB/Swiss-Prot (Q969V1.1);
                     transmembrane region"
     regulatory      3738..3743
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCHR2"
                     /gene_synonym="GPR145; GPRv17; MCH-2R; MCH-R2; MCH2; MCH2R;
                     MCHR-2; SLT"
                     /note="hexamer: AATAAA"
     polyA_site      3759
                     /gene="MCHR2"
                     /gene_synonym="GPR145; GPRv17; MCH-2R; MCH-R2; MCH2; MCH2R;
                     MCHR-2; SLT"
                     /note="major polyA site"
ORIGIN
        1 agaaaagagc acgacgcacc cgatgctcgg attggatgaa gtggcaaagg taaccccgct
       61 ggttcgggcg tttggctgtt cctgtgcctg gacccccgct ttggaaatgg aggtggggct
      121 ggctcccaac ctgtctcaga gaccctcgca ctcctccccc accttccgtc agctgggacc
      181 cgctgagagc cgtttttggt cacgcgcgct tagcggatag acctgcagtc ccgcagagag
      241 gaagggcgcc cgggctgtcc gccgcgcggg gaggacgcga gcacccagct ttaatccctg
      301 gaaagtccac gaacaatgaa tccatttcat gcatcttgtt ggaacacctc tgccgaactt
      361 ttaaacaaat cctggaataa agagtttgct tatcaaactg ccagtgtggt agatacagtc
      421 atcctccctt ccatgattgg gattatctgt tcaacagggc tggttggcaa catcctcatt
      481 gtattcacta taataagatc caggaaaaaa acagtccctg acatctatat ctgcaacctg
      541 gctgtggctg atttggtcca catagttgga atgccttttc ttattcacca atgggcccga
      601 gggggagagt gggtgtttgg ggggcctctc tgcaccatca tcacatccct ggatacttgt
      661 aaccaatttg cctgtagtgc catcatgact gtaatgagtg tggacaggta ctttgccctc
      721 gtccaaccat ttcgactgac acgttggaga acaaggtaca agaccatccg gatcaatttg
      781 ggcctttggg cagcttcctt tatcctggca ttgcctgtct gggtctactc gaaggtcatc
      841 aaatttaaag acggtgttga gagttgtgct tttgatttga catcccctga cgatgtactc
      901 tggtatacac tttatttgac gataacaact ttttttttcc ctctaccctt gattttggtg
      961 tgctatattt taattttatg ctatacttgg gagatgtatc aacagaataa ggatgccaga
     1021 tgctgcaatc ccagtgtacc aaaacagaga gtgatgaagt tgacaaagat ggtgctggtg
     1081 ctggtggtag tctttatcct gagtgctgcc ccttatcatg tgatacaact ggtgaactta
     1141 cagatggaac agcccacact ggccttctat gtgggttatt acctctccat ctgtctcagc
     1201 tatgccagca gcagcattaa cccttttctc tacatcctgc tgagtggaaa tttccagaaa
     1261 cgtctgcctc aaatccaaag aagagcgact gagaaggaaa tcaacaatat gggaaacact
     1321 ctgaaatcac acttttagga aagtacatgg atcaccatga gtctagacat gattgtctat
     1381 cttactggta ttatcagaaa gggcaggtgt accgatatgt ttatgcccat tcttcttgtg
     1441 tacttgtgac tcttagcagc atggaagaga agtgtaacca tgcaaataca atgagcttaa
     1501 tatgctaact ttagcaagat gtaaaatgtt gatctatatt gtgggtaggg aatgggatag
     1561 tctgagatac ccaggcttca tgatggtgta tattatttca gcatattata aactagtcac
     1621 taatgaaaat ggccatccat gaccattgac tcaaaactca ccaaggaacc tgaccttgcc
     1681 ctccacactg tggcctcact gtaacagttt cctcaaggtt cctaggaggg tatcacctta
     1741 gagtgaagtc taaaatttgg ctatttttta tctataaaaa atgtcagttt tatatggtcc
     1801 aatactaata ccctcaacaa ctaagcccca ccttttagaa taagttacca tttattgcac
     1861 acatgcaatg tgtaagatta catgtaacaa acctgtgaaa taagtattat tacctttgtt
     1921 tgctaaggct cagaaaggag aaatgatagg cctaatgctg caacagctat ctaagagctg
     1981 agctaacatt cagctctgcc tgtttctttt ctactgcacg accttgacaa cctttactta
     2041 tcatactgga gaacccagta acttggagtt tcttttgctt tctcctgtag ccctacaaga
     2101 ggagaactaa agtctgatag aaatgagttg atgttttaag catcattttg gattatcttt
     2161 gttctcacac ctgctaactg tagaaactgg catctgcact ttaataataa tactttactt
     2221 ctggacttta agcataatta ggaaacattc ctggccgggt gcagtggctc atgcctgtaa
     2281 tcccagcact ttgggaggtg gaggcaggtg gatcacaaag tcagaagttc aagaccagtc
     2341 tggccaacat agtgagaccc tgtctactaa aaataaaaaa agattagccg agcatggtgg
     2401 tgtgtgcctg tagtcccagc tactcaggag gctgaggcag gagaattgct tgaacccagg
     2461 aggtggaggt tacagtgagc cgagatcacg ccactgcact ccagcttggg caatagagtg
     2521 agacgtcatc tcaaaaaaaa aaacaaaaca aacaaaaaaa aaaacaagaa acattccctt
     2581 ttggttacag tatacatgtt tgttctaagg tacaaaaagt aattagccct taaattttca
     2641 taggtattca ttatatctat ctttcctctt tagacttata tatagttagg aaaggaaaca
     2701 atgcatttaa tgcctgtgtt ctacactaag acaaatattg ttatttttgc ttgtggataa
     2761 agtctgtaaa cccaccttct tcatctaaat acattaaatt tgttttctcc gtaaacatct
     2821 gaaaccaatt ttcaaccagc cccttctaga aaaagagtta accattttta tatctgatct
     2881 ccatttttat atttcaattg tgtttggata aacttgtatt tgaatcaacc cagacgtgat
     2941 ttttaaccct atttatttta ctctagaatt tttaggcacc atttcagaac tggatagtat
     3001 ctaaatgcat atctggatga atggttctgt aaaccacatg agaactacac actgagacag
     3061 gtagcatctg aaacatttta tttccatagc tgaggtctag agacctacat atgcagctgg
     3121 atgctcctat aaaacgtcaa taagaagctg tgtcatggcc acagtttcag gggtcttcat
     3181 tctcactttt ctaagatgca acagtccggg ctcagtgaat aatattgact tctgaagacc
     3241 cagcacaatg ggtcagaaac atcttattat gtgataattg aagagcaatt gcttactttc
     3301 attgtttttt taatacagaa aaatattatg attttaaaga cttagcttta aaccacagac
     3361 ctttttctag tagcagtccc aatagtcctc aaataattgg ccagtgaatt attttaaatt
     3421 atatttacta agagttgtaa ggagctttat ttagcattta atcaaagtag aaaataaaaa
     3481 gggtgattaa taaatttatt tttgtccctt tatatagcgt ttctatgcat aagcatattt
     3541 atatgcagat ttacagaggt gatttgatag agattctttg tgtgttttct atgtttggcc
     3601 atgatatgta tacatgttta ctttcaaatg aagttaataa tgatacttgg gtatttgtca
     3661 ctcagtcaaa taataatcgt atccttattc tattcttatt caattctagg tgcctcattt
     3721 aaactttgat ctcaattaat aaaaatgaat gagtaaaaa
//
LOCUS       NM_001040181            2010 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens claudin domain containing 1 (CLDND1), transcript
            variant 1, mRNA.
ACCESSION   NM_001040181
VERSION     NM_001040181.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2010)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2010)
  AUTHORS   Nie ZL, Wang YS, Mei YP, Lin X, Zhang GX, Sun HL, Wang YL, Xia YX
            and Wang SK.
  TITLE     Prognostic significance of long noncoding RNA Z38 as a candidate
            biomarker in breast cancer
  JOURNAL   J Clin Lab Anal 32 (1) (2018)
   PUBMED   28247935
REFERENCE   3  (bases 1 to 2010)
  AUTHORS   He X, Liu H, Guo F, Feng Y, Gao Y, Sun F, Song B, Lu H and Li Y.
  TITLE     Long non-coding RNA Z38 promotes cell proliferation and metastasis
            in human renal cell carcinoma
  JOURNAL   Mol Med Rep 16 (4), 5489-5494 (2017)
   PUBMED   28849012
  REMARK    GeneRIF: Z38 was overexpressed in clinical patients with RCC and was
            associated with RCC stage. Knockdown of Z38 in A498 and ACHIN cells
            inhibited cell proliferation and metastasis
REFERENCE   4  (bases 1 to 2010)
  AUTHORS   Ohnishi M, Ochiai H, Matsuoka K, Akagi M, Nakayama Y, Shima A, Uda
            A, Matsuoka H, Kamishikiryo J, Michihara A and Inoue A.
  TITLE     Claudin domain containing 1 contributing to endothelial cell
            adhesion decreases in presence of cerebellar hemorrhage
  JOURNAL   J Neurosci Res 95 (10), 2051-2058 (2017)
   PUBMED   28244141
  REMARK    GeneRIF: suggest that the transient decrease of CLDND1 after
            cerebellar hemorrhage is responsible for low-molecular-weight
            selective vascular hyperpermeability
REFERENCE   5  (bases 1 to 2010)
  AUTHORS   Matsuoka H, Shima A, Uda A, Ezaki H and Michihara A.
  TITLE     The retinoic acid receptor-related orphan receptor alpha positively
            regulates tight junction protein claudin domain-containing 1 mRNA
            expression in human brain endothelial cells
  JOURNAL   J Biochem 161 (5), 441-450 (2017)
   PUBMED   28130419
  REMARK    GeneRIF: findings strongly suggest that CLDND1 is a direct RORalpha
            target
REFERENCE   6  (bases 1 to 2010)
  AUTHORS   Achari C, Winslow S and Larsson C.
  TITLE     Down Regulation of CLDND1 Induces Apoptosis in Breast Cancer Cells
  JOURNAL   PLoS One 10 (6), e0130300 (2015)
   PUBMED   26083392
  REMARK    GeneRIF: CLDND1 as a novel survival factor in basal-like breast
            cancer cell lines Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2010)
  AUTHORS   Teckchandani A, Toida N, Goodchild J, Henderson C, Watts J,
            Wollscheid B and Cooper JA.
  TITLE     Quantitative proteomics identifies a Dab2/integrin module regulating
            cell migration
  JOURNAL   J Cell Biol 186 (1), 99-111 (2009)
   PUBMED   19581412
REFERENCE   8  (bases 1 to 2010)
  AUTHORS   Liu Y, Sun W, Zhang K, Zheng H, Ma Y, Lin D, Zhang X, Feng L, Lei W,
            Zhang Z, Guo S, Han N, Tong W, Feng X, Gao Y and Cheng S.
  TITLE     Identification of genes differentially expressed in human primary
            lung squamous cell carcinoma
  JOURNAL   Lung Cancer 56 (3), 307-317 (2007)
   PUBMED   17316888
  REMARK    GeneRIF: A cDNA library consisting of 220 upregulated genes in
            tumour tissue was established and named as LSCC. Differential
            expression was confirmed in five of these genes, including IGFBP5,
            SQLE, RAP2B, CLDN1, and TBL1XR1.
REFERENCE   9  (bases 1 to 2010)
  AUTHORS   Fayein NA, Stankoff B, Auffray C and Devignes MD.
  TITLE     Characterization of tissue expression and full-length coding
            sequence of a novel human gene mapping at 3q12.1 and transcribed in
            oligodendrocytes
  JOURNAL   Gene 289 (1-2), 119-129 (2002)
   PUBMED   12036590
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.640862.1,
            SRR1660805.132475.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148874,
            SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000341181.11/ ENSP00000340247.6
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC013610.1, EB386420.1 and AA811441.1.
            On Nov 22, 2018 this sequence version replaced NM_001040181.1.
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes isoform a. Variants 1, 2, 3, and 6 all
            encode the same isoform.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2010
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     gene            1..2010
                     /gene="CLDND1"
                     /gene_synonym="C3orf4; GENX-3745; Z38"
                     /note="claudin domain containing 1"
                     /db_xref="GeneID:56650"
                     /db_xref="HGNC:HGNC:1322"
                     /db_xref="MIM:619677"
     CDS             73..834
                     /gene="CLDND1"
                     /gene_synonym="C3orf4; GENX-3745; Z38"
                     /note="isoform a is encoded by transcript variant 1;
                     claudin domain containing 1 protein; claudin
                     domain-containing protein 1; membrane protein GENX-3745"
                     /codon_start=1
                     /product="claudin domain-containing protein 1 isoform a"
                     /protein_id="NP_001035271.1"
                     /db_xref="CCDS:CCDS2930.1"
                     /db_xref="GeneID:56650"
                     /db_xref="HGNC:HGNC:1322"
                     /db_xref="MIM:619677"
                     /translation="MDNRFATAFVIACVLSLISTIYMAASIGTDFWYEYRSPVQENSSD
                     LNKSIWDEFISDEADEKTYNDALFRYNGTVGLWRRCITIPKNMHWYSPPERTESFDVVT
                     KCVSFTLTEQFMEKFVDPGNHNSGIDLLRTYLWRCQFLLPFVSLGLMCFGALIGLCACI
                     CRSLYPTIATGILHLLAGLCTLGSVSCYVAGIELLHQKLELPDNVSGEFGWSFCLACVS
                     APLQFMASALFIWAAHTNRKEYTLMKAYRVA"
     misc_feature    85..147
                     /gene="CLDND1"
                     /gene_synonym="C3orf4; GENX-3745; Z38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NY35.1);
                     transmembrane region"
     misc_feature    196..198
                     /gene="CLDND1"
                     /gene_synonym="C3orf4; GENX-3745; Z38"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9NY35.1); glycosylation site"
     misc_feature    286..288
                     /gene="CLDND1"
                     /gene_synonym="C3orf4; GENX-3745; Z38"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (Q9NY35.1); glycosylation site"
     misc_feature    493..555
                     /gene="CLDND1"
                     /gene_synonym="C3orf4; GENX-3745; Z38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NY35.1);
                     transmembrane region"
     misc_feature    595..657
                     /gene="CLDND1"
                     /gene_synonym="C3orf4; GENX-3745; Z38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NY35.1);
                     transmembrane region"
     misc_feature    718..780
                     /gene="CLDND1"
                     /gene_synonym="C3orf4; GENX-3745; Z38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NY35.1);
                     transmembrane region"
     regulatory      1987..1992
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLDND1"
                     /gene_synonym="C3orf4; GENX-3745; Z38"
                     /note="hexamer: AATAAA"
     polyA_site      2010
                     /gene="CLDND1"
                     /gene_synonym="C3orf4; GENX-3745; Z38"
                     /note="major polyA site"
ORIGIN
        1 agggtgctgt ggtctgagct agagggtgaa gctggcggag caggaggatg ggcgagcagt
       61 ctgaatgcca gaatggataa ccgttttgct acagcatttg taattgcttg tgtgcttagc
      121 ctcatttcca ccatctacat ggcagcctcc attggcacag acttctggta tgaatatcga
      181 agtccagttc aagaaaattc cagtgatttg aataaaagca tctgggatga attcattagt
      241 gatgaggcag atgaaaagac ttataatgat gcactttttc gatacaatgg cacagtggga
      301 ttgtggagac ggtgtatcac catacccaaa aacatgcatt ggtatagccc accagaaagg
      361 acagagtcat ttgatgtggt cacaaaatgt gtgagtttca cactaactga gcagttcatg
      421 gagaaatttg ttgatcccgg aaaccacaat agcgggattg atctccttag gacctatctt
      481 tggcgttgcc agttcctttt accttttgtg agtttaggtt tgatgtgctt tggggctttg
      541 atcggacttt gtgcttgcat ttgccgaagc ttatatccca ccattgccac gggcattctc
      601 catctccttg caggtctgtg tacactgggc tcagtaagtt gttatgttgc tggaattgaa
      661 ctactccacc agaaactaga gctccctgac aatgtatccg gtgaatttgg atggtccttc
      721 tgcctggctt gtgtctctgc tcccttacag ttcatggctt ctgctctctt catctgggct
      781 gctcacacca accggaaaga gtacacctta atgaaggcat atcgtgtggc atgagcaaga
      841 aactgcctgc tttacaattg ccatttttat ttttttaaaa taatactgat attttcccca
      901 cctctcaatt gtttttaatt tttatttgtg gatataccat tttattatga aaatctattt
      961 tatttataca cattcaccac taaatacaca cttaatacca ctaaaattta tgtggtttac
     1021 tttaagcgat gccatctttc aaataaacta atctaggtct agacagaaag aaatggatag
     1081 agacttgaca caaatttatg aaagaaaatt gggagtagga atgtgaccga aaacaagttg
     1141 tgctaatgtc tgttagactt ttcagtaaaa ctaaagtaac tgtatctgtt caactaaaaa
     1201 ctctatatta gtttctttgg gaaacctctc atcgtcaaaa ctttatgttc actttgctgt
     1261 tgtagatagc cagtcaacca gcagtattag tgctgttttc aaagatttaa gctctataaa
     1321 attgggaaat tatctaagat cattttccct aagcattgac acatagcttc atctgaggtg
     1381 agatatggca gctgtttgta tctgcactgt gtctgtctac aaaaagtgaa aaatacagtg
     1441 tttacttgaa attttaactt tgtaactgca agaattccag ttcagccggg cgaggattag
     1501 tattattttt aactctccgt aagattttca gtaccaccaa attgttttgg attttttttc
     1561 tttcctcttc acataccagg gttattaaaa gtgtgctttc tttttacatt atattacagt
     1621 tacaaggtaa aattcctcaa ctgctattta tttattccag cccagtacta taaagaacgt
     1681 ttcaccataa tgaccctcca gagctgggaa acctaccaca agatctaaag ttctggctgt
     1741 ccattaacct ccaactatgg tctttatttc ttgtggtaat atgatgtgcc tttccttgcc
     1801 taaatccctt cctggtgtgt atcaacatta tttaatgtct tctaattcag tcattttttt
     1861 ataagtatgt ctataaacat tgaactttaa aaaacttatt tatttattcc actactgtag
     1921 caattgacag attaaaaaaa tgtaacttca taatttctta ccataacctc aatgtctttt
     1981 ttaaaaaata aaattaaaaa tgaaaagaga
//
LOCUS       NM_001040185            4572 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 765 (ZNF765), transcript variant 1,
            mRNA.
ACCESSION   NM_001040185
VERSION     NM_001040185.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4572)
  AUTHORS   Liu X, Wu P, Su R, Xue Y, Yang C, Wang D, Ruan X, Zheng J, Yang Y,
            Li Z and Liu Y.
  TITLE     IGF2BP2 stabilized FBXL19-AS1 regulates the blood-tumour barrier
            permeability by negatively regulating ZNF765 by STAU1-mediated mRNA
            decay
  JOURNAL   RNA Biol 17 (12), 1777-1788 (2020)
   PUBMED   32713259
  REMARK    GeneRIF: IGF2BP2 stabilized FBXL19-AS1 regulates the blood-tumour
            barrier permeability by negatively regulating ZNF765 by
            STAU1-mediated mRNA decay.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BM834105.1, BX647981.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396408.8/ ENSP00000379689.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CD656338.1 and AC022137.6.
            On Nov 22, 2018 this sequence version replaced NM_001040185.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4572
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..4572
                     /gene="ZNF765"
                     /note="zinc finger protein 765"
                     /db_xref="GeneID:91661"
                     /db_xref="HGNC:HGNC:25092"
     misc_feature    56..58
                     /gene="ZNF765"
                     /note="upstream in-frame stop codon"
     CDS             119..1690
                     /gene="ZNF765"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="zinc finger protein 765 isoform 1"
                     /protein_id="NP_001035275.1"
                     /db_xref="CCDS:CCDS46171.1"
                     /db_xref="GeneID:91661"
                     /db_xref="HGNC:HGNC:25092"
                     /translation="MALPQGLLTFRDVAIEFSQEEWKCLDPAQRTLYRDVMLENYRNLV
                     SLDISSKCMMKEFSSTAQGNREVFHAGTSQRHESHHNGDFCFQDIDKDIHDIEFQWQED
                     ERNGHEALMTKIKKLTGSTERYDQNYAGNKPVKYQLGFSFHSHLPELHIFHTEEKIDNQ
                     VVKSIHDASLVSTAQRISCRPETHISNDYGNNFLNSSLFTQKQEVHMREKSFQCNDSGK
                     AYNCSSLLRKHQLIHLGEKQYKCDICGKVFNSKRYVARHRRCHTGEKPYKCNECGKTFS
                     QTYYLTCHRRLHTGEKPYKCEECDKAFHFKSKLQIHRRIHTGEKPYKCNECGKTFSQKS
                     YLTCHRRLHTGEKPYKCNECGKTFSRKSHFTCHHRVHTGEKPYKCNECSKTFSHKSSLT
                     YHRRLHTEEKPYKCNECGKTFNQQLTLNICRLHSGEKPYKCEECDKAYSFKSNLEIHQK
                     IHTEENPYKCNECGKTFSRTSSLTYHHRLHTGQKPYKCEDCDEAFSFKSNLERHRRIYT
                     GEKLHV"
     regulatory      4546..4551
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF765"
                     /note="hexamer: AATATA"
     polyA_site      4572
                     /gene="ZNF765"
                     /note="major polyA site"
ORIGIN
        1 agacccggaa gcggacggcg tggagtgact atcccaccgc cgcgggattg acttctaaag
       61 actcttggta tgtgaggaag aaacctggaa gaggaagagg aaagcaaagg agtcagggat
      121 ggctcttcct cagggtctat tgacattcag ggatgtggcc atagaattct ctcaggagga
      181 gtggaaatgc ctggaccctg ctcagaggac tctatacagg gacgtgatgc tggagaatta
      241 taggaacctg gtctccctgg atatctcttc caaatgcatg atgaaggagt tctcgtcaac
      301 agcacaaggc aatagagaag tgttccatgc agggacatct caaagacatg aaagtcatca
      361 caatggagat ttttgtttcc aggatattga taaagatatt catgacattg agtttcagtg
      421 gcaagaagat gaaagaaatg gccatgaagc actcatgaca aaaatcaaaa agttgacagg
      481 tagtacagag cgatatgatc aaaattatgc tggaaacaag cctgttaaat atcagcttgg
      541 attcagcttt cattcgcatc tgcctgaact gcacatattt cacactgaag agaaaattga
      601 taatcaagtt gtgaagtcta tccacgatgc ttccttggtt tcaacagccc aaagaatttc
      661 ttgtaggcct gaaacccata tttctaatga ctatgggaat aatttcctga attcttcatt
      721 attcacacaa aaacaggaag tacatatgag ggaaaaatct ttccaatgca atgacagtgg
      781 caaagcctat aattgtagct cactcttaag gaaacatcag ttaatccatt taggagagaa
      841 acaatataaa tgcgatatat gtggcaaggt ctttaattcg aagcgatacg ttgcacgcca
      901 tcgtagatgt cacactggtg agaaacctta caagtgtaat gagtgtggca agaccttcag
      961 tcagacatat tacctaacat gccatcgtag acttcatact ggagagaaac cttacaaatg
     1021 tgaagaatgt gacaaagctt tccatttcaa atcaaagctt caaatacata ggagaattca
     1081 tactggagag aaaccgtaca agtgtaatga gtgtggcaag acctttagtc agaagtcgta
     1141 ccttacatgc catcgtaggc ttcatactgg agagaaacct tacaagtgta atgagtgtgg
     1201 caagaccttt agtcggaagt cacattttac atgccatcat agagttcata ctggagagaa
     1261 accttacaag tgtaatgagt gtagcaagac ctttagtcac aagtcatctc ttacatacca
     1321 tcgtagactt catactgaag agaaacctta caagtgtaat gagtgtggca agaccttcaa
     1381 tcagcagtta acccttaaca tttgtagact tcatagtgga gagaaacctt acaaatgtga
     1441 agaatgtgac aaagcctaca gtttcaaatc aaaccttgaa atacatcaga aaattcatac
     1501 tgaagagaat ccttacaagt gtaatgagtg tggcaagacc ttcagccgga cgtcatccct
     1561 tacataccat catagacttc atactggaca gaaaccttac aaatgtgaag attgtgatga
     1621 agctttcagt ttcaaatcaa accttgaaag acataggaga atttatactg gagagaaact
     1681 acacgtgtaa tgagtgtggt aagaccttca atcaggagtt aacccttaca tgccatcgta
     1741 ggcttcatag tggagagaaa ccttacaaat atgaagaact tgacaaagct tacaatttca
     1801 aatcaaacct tgaaatacat cagaaaattc gtactgaaga gaatcttaca agtgtaatga
     1861 gtgtggcaag accttgagtc atacgtcatc ttttgtgtac catcataaac ttcatagtgg
     1921 agagacctta caaatgtgaa gaatgtgaag aagctttctg tttcaaatcc aaccttgaaa
     1981 gacataggag aattcacact ggtgagaaac cttacaggtg taatgagtgt ggcaagacct
     2041 tcagccagac ctcatccctt acatgccatt gtagacttcg tactggagag aaaccttaca
     2101 aatgtgaaga atttgagttt tccatttcaa atcaaacctt gaaagacaaa ggagaattca
     2161 tactggagag aaaccataca agtgtaatga gtgtggcaag acctttagtc agaactcata
     2221 ccttacacgc catcgtagac ttcatactgg aggatacctt acaaatgtaa tgagtgtggc
     2281 aagaccttta gtcagaactc ataccttaca tgccatcata gacttcatac tggagagata
     2341 ccttaaaagt gtagtgagtg tggcaagacc tttagtctga agtcatacct tacgcaccat
     2401 cgtagacttc atactggaga ggtaccttac aaggataatg agtgtagaaa aacctttcat
     2461 gggcagtcag cattttacaa atgtaatgat tgtcaccaag tcttgagtaa tgctacaact
     2521 attgcaaatc attggagaat ccataatgaa gagagatcct acaagtgtga taaatgcaga
     2581 ataaatgcag aaaatttttc agacatcctt catacctttg cagttcatgg gtgaagtcgt
     2641 attagaaacc ttacaaatgt gaagaatgtg atgaagcttt cagattcaaa tcaaaccttg
     2701 atagtcatag aattcatact agagagaaac cttagcagtg taatgaacgt ggcaaggttt
     2761 taaatcaaaa agcaaagctt gcacatcatc atagaattca tactggagat aaacgttaca
     2821 aatgtgaagc atgtgacaaa gtttacagtc gcaaatcaag cctccaaaga caggagaatt
     2881 catactggag agaaagctta catatgtgaa gaatgtcacc aagttttcag tcacactcaa
     2941 accttgaaag acacaggaga attcctactg gagagatagc ataaaaatgt aagagtttgt
     3001 gacaaggctt tcaggcataa ttcgcacctg gcacaacatc ctagaattca cattggagag
     3061 aaagcttaca agtataatga atgtgacagg tctttagtgg gcagtcaaca cttgtttacc
     3121 atcaggcaat ccatggtgta gggaaacttt acttatgtaa tgattgtcac aaagtcttca
     3181 gttacactac aaccattgcg aatcattgga gaatccataa tgaagagaga tcatactagt
     3241 ttaataaatt tggcaaattt ttcagacatt gttcataact tgcagttcat cggcgaactc
     3301 gtactggaga gaaaccttac aaatgtcatg attgtgacaa ggtctcagtc aagcttcatt
     3361 ctatgcaaaa cataggagaa ttcatacagg agagaaacct cacaagtgtg atgattgcgg
     3421 caaagccttt aattcacatt cacacctcac tagacatcag agaatgcata ctggacagaa
     3481 atcttataaa tgtcatcagt gtgccaaagt cttcagtctg agctcactcc ttgcaggata
     3541 tcagaaaatt cattttggag atagttgttc caaatacaat gtgtatagca aaccatcaag
     3601 cattaattga cactagagtc agttcagcat tgacttgagt ttgacttaac attgagttga
     3661 agccttaatt gacattaaag tgtttatgtt aagaggactg ggccaggcac agtggctcac
     3721 acctgtaatc tgagcgcttt gggaggccag caccggtaga tcacttgagt tcaggagttt
     3781 gaggtcagcc tggccaacag acgtgagcca ttttcccagc ctgttttttg tttctttaac
     3841 aaaaactgat agggattttt tttttttttt ttgagatgga gtttcactct tgttgcccag
     3901 gctggactgc aatggagcga tcccagctca ctacaacctc cgcctcccag gttcaagcaa
     3961 ttctcctgcc tcagcctcca gagtagctag gattacaggc atgagccacc acgcccagct
     4021 aattttgtat ttttagtaga gatggggttt ctccatgttg gttaggctgg tcttgaactc
     4081 ccagcctcag atgatccacc cacctcggcc tcccaaagtg ctgggattac aggcgtgagc
     4141 cactgcgccc agccccagtg ataaggattt ttatgggtac cgtgttgaat ctaaatcaca
     4201 ttgggttata taatcattta acaatattaa tttttccaaa ccataagtat gggttgtagc
     4261 tctatgtttc taatcatttt gatcaatgtt tgtagatttc aaggtaaaaa cctctgacct
     4321 ttttacgttt atttctaagt atttcttact ttaagttctc cagccaatgg aagtgtttta
     4381 aaattttctt ttaaagttgt ttgttgttaa aagtatggaa attcaactaa tttttggtgc
     4441 tgatactgta ttgtgcaaat ccactgaata tgttacttag ttccagtagt attttggttg
     4501 actctttgtg attttctgca cagaagatca tgtcgtctac aaacaaatat aattttactt
     4561 ctttctttct ga
//
LOCUS       NM_001040192            1485 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens DnaJ heat shock protein family (Hsp40) member C28
            (DNAJC28), transcript variant 2, mRNA.
ACCESSION   NM_001040192
VERSION     NM_001040192.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1485)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen AA,
            Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke L,
            Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM, Tiemeier
            H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst FC, Ward ME,
            Wright MJ, Davey Smith G, Deary IJ, Johannesson M, Plomin R,
            Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
REFERENCE   2  (bases 1 to 1485)
  AUTHORS   Dowling JK, Becker CE, Bourke NM, Corr SC, Connolly DJ, Quinn SR,
            Pandolfi PP, Mansell A and O'Neill LAJ.
  TITLE     Promyelocytic leukemia protein interacts with the
            apoptosis-associated speck-like protein to limit inflammasome
            activation
  JOURNAL   J Biol Chem 289 (10), 6429-6437 (2014)
   PUBMED   24407287
REFERENCE   3  (bases 1 to 1485)
  AUTHORS   Gardiner K, Slavov D, Bechtel L and Davisson M.
  TITLE     Annotation of human chromosome 21 for relevance to Down syndrome:
            gene structure and expression analysis
  JOURNAL   Genomics 79 (6), 833-843 (2002)
   PUBMED   12036298
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC029509.1, DA234338.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381947.4/ ENSP00000371373.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC029509.1, CB241459.1 and
            AI825667.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 27, 2020 this sequence version replaced NM_001040192.2.
            Summary: This gene encodes a member of the DnaJ heat shock protein
            family. The encoded protein, which contains a conserved N-terminal
            DnaJ domain, is thought to play a role in protein folding or act as
            a molecular chaperone protein. [provided by RefSeq, Oct 2016].
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1, 2, and 3 encode the same
            protein.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1485
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     gene            1..1485
                     /gene="DNAJC28"
                     /gene_synonym="C21orf55; C21orf78"
                     /note="DnaJ heat shock protein family (Hsp40) member C28"
                     /db_xref="GeneID:54943"
                     /db_xref="HGNC:HGNC:1297"
     misc_feature    57..59
                     /gene="DNAJC28"
                     /gene_synonym="C21orf55; C21orf78"
                     /note="upstream in-frame stop codon"
     CDS             147..1313
                     /gene="DNAJC28"
                     /gene_synonym="C21orf55; C21orf78"
                     /note="DnaJ (Hsp40) homolog, subfamily C, member 28"
                     /codon_start=1
                     /product="dnaJ homolog subfamily C member 28"
                     /protein_id="NP_001035282.1"
                     /db_xref="CCDS:CCDS13626.1"
                     /db_xref="GeneID:54943"
                     /db_xref="HGNC:HGNC:1297"
                     /translation="MNTMYVMMAQILRSHLIKATVIPNRVKMLPYFGIIRNRMMSTHKS
                     KKKIREYYRLLNVEEGCSADEVRESFHKLAKQYHPDSGSNTADSATFIRIEKAYRKVLS
                     HVIEQTNASQSKGEEEEDVEKFKYKTPQHRHYLSFEGIGFGTPTQREKHYRQFRADRAA
                     EQVMEYQKQKLQSQYFPDSVIVKNIRQSKQQKITQAIERLVEDLIQESMAKGDFDNLSG
                     KGKPLKKFSDCSYIDPMTHNLNRILIDNGYQPEWILKQKEISDTIEQLREAILVSRKKL
                     GNPMTPTEKKQWNHVCEQFQENIRKLNKRINDFNLIVPILTRQKVHFDAQKEIVRAQKI
                     YETLIKTKEVTDRNPNNLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF"
     misc_feature    1185..1187
                     /gene="DNAJC28"
                     /gene_synonym="C21orf55; C21orf78"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17693683; propagated from
                     UniProtKB/Swiss-Prot (Q9NX36.2); phosphorylation site"
     regulatory      1293..1298
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC28"
                     /gene_synonym="C21orf55; C21orf78"
                     /note="hexamer: ATTAAA"
     polyA_site      1313
                     /gene="DNAJC28"
                     /gene_synonym="C21orf55; C21orf78"
                     /note="major polyA site"
     regulatory      1324..1329
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC28"
                     /gene_synonym="C21orf55; C21orf78"
                     /note="hexamer: CATAAA"
     polyA_site      1350
                     /gene="DNAJC28"
                     /gene_synonym="C21orf55; C21orf78"
     regulatory      1381..1386
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJC28"
                     /gene_synonym="C21orf55; C21orf78"
                     /note="hexamer: AATACA"
     polyA_site      1401
                     /gene="DNAJC28"
                     /gene_synonym="C21orf55; C21orf78"
ORIGIN
        1 ggtggtcccc ggtcgggacg aaggctcccg aggtgccctg cctgggtcct ccggggtaaa
       61 gttcgtttgg cggaagattg tccgttttcc tggtaaggtc acctgtccca atcaggtcat
      121 tgctaggaag aactctgggt acaataatga atacaatgta tgtgatgatg gctcagatct
      181 taagatctca cctgataaag gctacagtga ttcctaatcg agtgaaaatg cttccatatt
      241 ttggtatcat tagaaataga atgatgtcaa cccataaatc caaaaagaag atcagagaat
      301 attatagact gctgaacgtg gaggaaggat gctctgcaga tgaagtcagg gaatcttttc
      361 ataagcttgc caagcaatat catcctgaca gtggctctaa tactgctgat tctgcaacat
      421 ttataaggat tgaaaaagct tatagaaagg tgctctccca tgtgatagaa caaacaaatg
      481 ccagtcagag taaaggtgaa gaagaagaag atgtagaaaa attcaaatat aaaacacccc
      541 aacaccgaca ttatttaagt tttgaaggta ttggttttgg gactccaact caacgagaga
      601 agcattatag gcaatttagg gcagaccgtg ctgctgaaca agtgatggaa tatcaaaagc
      661 agaaactaca aagccagtat tttcctgata gtgtaattgt taaaaatata agacagagca
      721 aacagcaaaa gataacgcaa gctatagaac gtttagtgga ggacctcatt caagaatcca
      781 tggcaaaagg agactttgac aatctcagtg ggaaaggaaa acctctgaaa aagttttctg
      841 actgttctta cattgatccc atgactcaca acctgaaccg aatactgatc gataatggat
      901 accaaccaga atggatcctt aagcaaaagg aaataagcga tactattgag caactcagag
      961 aggcaatttt agtgtctagg aaaaaacttg ggaatccaat gacaccaact gaaaagaaac
     1021 agtggaacca tgtttgtgag cagtttcaag aaaacatcag aaaattaaac aagcgaatta
     1081 atgattttaa tttaattgtt cccatcctga ccaggcaaaa agtccatttt gatgctcaga
     1141 aagaaattgt cagagcccag aaaatatacg agacccttat aaaaacaaaa gaagtcacag
     1201 atagaaaccc aaataacctt gatcaaggag aaggagagaa aacacctgaa atcaagaaag
     1261 gttttttaaa ctggatgaat ctgtggaaat ttattaaaat acgatcattt tgatgtttac
     1321 tatcataaat cattcttagt tccactgaca ctttacatgg aaaatgagat ttattgctat
     1381 aatacaagaa tttaagaatt gtgccattgt acttatcaca aaactaatca catagccaat
     1441 gatgtgtgag tgagaaacct atcaggtttg tcctgaggat atagc
//
LOCUS       NM_001040202            9811 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens progestin and adipoQ receptor family member 3 (PAQR3),
            transcript variant 1, mRNA.
ACCESSION   NM_001040202
VERSION     NM_001040202.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9811)
  AUTHORS   Wu YL, Hong LL, Ling ZN, Hu XY, Liu Z, Li P and Ling ZQ.
  TITLE     Golgi scaffold protein PAQR3 as a candidate suppressor of gastric
            cardia adenocarcinoma via regulating TGF-beta/Smad pathway
  JOURNAL   J Clin Lab Anal 36 (9), e24617 (2022)
   PUBMED   35870178
  REMARK    GeneRIF: Golgi scaffold protein PAQR3 as a candidate suppressor of
            gastric cardia adenocarcinoma via regulating TGF-beta/Smad pathway.
REFERENCE   2  (bases 1 to 9811)
  AUTHORS   Zhang C, Liu P, Huang J, Liao Y, Pan C, Liu J, Du Q, Liu T, Shang C,
            Ooi S, Chen R, Xia M, Jiang H, Xu M, Zou Q, Zhou Y, Huang H, Pan Y,
            Yuan L, Wang W and Yao S.
  TITLE     Circular RNA hsa_circ_0043280 inhibits cervical cancer tumor growth
            and metastasis via miR-203a-3p/PAQR3 axis
  JOURNAL   Cell Death Dis 12 (10), 888 (2021)
   PUBMED   34588429
  REMARK    GeneRIF: Circular RNA hsa_circ_0043280 inhibits cervical cancer
            tumor growth and metastasis via miR-203a-3p/PAQR3 axis. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 9811)
  AUTHORS   Jin L and Tong L.
  TITLE     PAQR3 inhibits proliferation and aggravates ferroptosis in acute
            lymphoblastic leukemia through modulation Nrf2 stability
  JOURNAL   Immun Inflamm Dis 9 (3), 827-839 (2021)
   PUBMED   33955706
  REMARK    GeneRIF: PAQR3 inhibits proliferation and aggravates ferroptosis in
            acute lymphoblastic leukemia through modulation Nrf2 stability.
REFERENCE   4  (bases 1 to 9811)
  AUTHORS   Gao J, Ma XP, Deng FS, Jiang L, Jia WD and Li M.
  TITLE     Associations of the BRAF V600E Mutation and PAQR3 Protein Expression
            with Papillary Thyroid Carcinoma Clinicopathological Features
  JOURNAL   Pathol Oncol Res 26 (3), 1833-1841 (2020)
   PUBMED   31758408
  REMARK    GeneRIF: Associations of the BRAF V600E Mutation and PAQR3 Protein
            Expression with Papillary Thyroid Carcinoma Clinicopathological
            Features.
REFERENCE   5  (bases 1 to 9811)
  AUTHORS   Qi LQ, Sun B, Yang BB and Lu S.
  TITLE     MiR-15b facilitates breast cancer progression via repressing tumor
            suppressor PAQR3
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (2), 740-748 (2020)
   PUBMED   32016977
  REMARK    GeneRIF: MiR-15b facilitates breast cancer progression via
            repressing tumor suppressor PAQR3.
REFERENCE   6  (bases 1 to 9811)
  AUTHORS   Garitaonandia I, Smith JL, Kupchak BR and Lyons TJ.
  TITLE     Adiponectin identified as an agonist for PAQR3/RKTG using a
            yeast-based assay system
  JOURNAL   J Recept Signal Transduct Res 29 (1), 67-73 (2009)
   PUBMED   19519172
  REMARK    GeneRIF: Data show that adiponectin functions as an agonist of
            PAQR3.
REFERENCE   7  (bases 1 to 9811)
  AUTHORS   Luo X, Feng L, Jiang X, Xiao F, Wang Z, Feng GS and Chen Y.
  TITLE     Characterization of the topology and functional domains of RKTG
  JOURNAL   Biochem J 414 (3), 399-406 (2008)
   PUBMED   18547165
  REMARK    GeneRIF: Analysis in detail of the topology and functional domains
            of RKTG (Raf kinase trapping to Golgi).
REFERENCE   8  (bases 1 to 9811)
  AUTHORS   Fan F, Feng L, He J, Wang X, Jiang X, Zhang Y, Wang Z and Chen Y.
  TITLE     RKTG sequesters B-Raf to the Golgi apparatus and inhibits the
            proliferation and tumorigenicity of human malignant melanoma cells
  JOURNAL   Carcinogenesis 29 (6), 1157-1163 (2008)
   PUBMED   18515281
  REMARK    GeneRIF: RKTG may play a suppressive role in human melanoma that
            harbors an oncogenic B-Raf mutation via its antagonistic action on
            B-Raf.
REFERENCE   9  (bases 1 to 9811)
  AUTHORS   Feng L, Xie X, Ding Q, Luo X, He J, Fan F, Liu W, Wang Z and Chen Y.
  TITLE     Spatial regulation of Raf kinase signaling by RKTG
  JOURNAL   Proc Natl Acad Sci U S A 104 (36), 14348-14353 (2007)
   PUBMED   17724343
  REMARK    GeneRIF: reveal a paradigm of spatial regulation of Raf kinase by
            RKTG via sequestrating Raf-1 to the Golgi apparatus and thereby
            inhibiting the ERK signaling pathway.
REFERENCE   10  (bases 1 to 9811)
  AUTHORS   Tang YT, Hu T, Arterburn M, Boyle B, Bright JM, Emtage PC and Funk
            WD.
  TITLE     PAQR proteins: a novel membrane receptor family defined by an
            ancient 7-transmembrane pass motif
  JOURNAL   J Mol Evol 61 (3), 372-380 (2005)
   PUBMED   16044242
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.233484.1,
            SRR1660803.55156.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2152798
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000512733.5/ ENSP00000421981.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093841.3, DA410845.1,
            AY424281.1 and BX648346.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001040202.1.
            Summary: This gene encodes a seven-transmembrane protein localized
            in the Golgi apparatus in mammalian cells. The encoded protein
            belongs to the progestin and adipoQ receptor (PAQR) family. This
            protein functions as a tumor suppressor by inhibiting the
            Raf/MEK/ERK signaling cascade. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Apr 2017].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..9811
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.21"
     gene            1..9811
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="progestin and adipoQ receptor family member 3"
                     /db_xref="GeneID:152559"
                     /db_xref="HGNC:HGNC:30130"
                     /db_xref="MIM:614577"
     misc_feature    56..58
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="upstream in-frame stop codon"
     CDS             215..1150
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="isoform 1 is encoded by transcript variant 1; Raf
                     kinase trapping to Golgi; progestin and adipoQ receptor
                     family member III"
                     /codon_start=1
                     /product="progestin and adipoQ receptor family member 3
                     isoform 1"
                     /protein_id="NP_001035292.1"
                     /db_xref="CCDS:CCDS34020.1"
                     /db_xref="GeneID:152559"
                     /db_xref="HGNC:HGNC:30130"
                     /db_xref="MIM:614577"
                     /translation="MHQKLLKSAHYIELGSYQYWPVLVPRGIRLYTYEQIPGSLKDNPY
                     ITDGYRAYLPSRLCIKSLFILSNETVNIWSHLLGFFLFFTLGIYDMTSVLPSASASRED
                     FVICSICLFCFQVCMLCSVGYHLFSCHRSEKTCRRWMALDYAGISIGILGCYVSGVFYA
                     FYCNNYWRQVYLITVLAMILAVFFAQIHPNYLTQQWQRLRSIIFCSVSGYGVIPTLHWV
                     WLNGGIGAPIVQDFAPRVIVMYMIALLAFLFYISKVPERYFPGQLNYLGSSHQIWHILA
                     VVMLYWWHQSTVYVMQYRHSKPCPDYVSHL"
     misc_feature    395..427
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6TCH7.2);
                     Region: Golgi targeting"
     misc_feature    434..502
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6TCH7.2);
                     transmembrane region"
     misc_feature    530..598
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6TCH7.2);
                     transmembrane region"
     misc_feature    635..703
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6TCH7.2);
                     transmembrane region"
     misc_feature    731..799
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6TCH7.2);
                     transmembrane region"
     misc_feature    818..886
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6TCH7.2);
                     transmembrane region"
     misc_feature    929..982
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6TCH7.2);
                     transmembrane region"
     misc_feature    1040..1108
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6TCH7.2);
                     transmembrane region"
     misc_feature    1109..1123
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6TCH7.2);
                     Region: Golgi targeting"
     regulatory      3728..3733
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="hexamer: AATAAA"
     polyA_site      3747
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="major polyA site"
     regulatory      6470..6475
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="hexamer: AATAAA"
     polyA_site      6491
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
     regulatory      6791..6796
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="hexamer: ATTAAA"
     polyA_site      6811
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
     regulatory      7609..7614
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="hexamer: ATTAAA"
     polyA_site      7633
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
     regulatory      8693..8698
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="hexamer: AATAAA"
     polyA_site      8710
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
     regulatory      9789..9794
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
                     /note="hexamer: AATACA"
     polyA_site      9811
                     /gene="PAQR3"
                     /gene_synonym="RKTG"
ORIGIN
        1 agaggaggct gcgacgctgc cgggtccgcc gcggcgctgg cggcagtggc cggtgtgagc
       61 gcagagccgg gccctgggca gcagcggcag cgcggtagga cctcgcgcag cgtccgcggg
      121 ctccggggcg ggggcgccag cggcgaagcc ccctccccgg ggaggcggga cctgggggag
      181 ctcccgagcc ggggagcggc ggcggccggg aacgatgcat cagaagctgc tgaagagcgc
      241 gcattacatc gagctgggca gctaccagta ctggccggtc ctggtgcccc gtggcatccg
      301 cctgtacacc tacgagcaga tccccgggtc cctcaaggac aacccgtaca tcaccgacgg
      361 ctaccgggcc tacctgccgt ccaggctgtg tatcaaaagt ttgtttattt tatctaatga
      421 gacagtaaac atctggagtc atttgctggg tttctttctc ttcttcaccc tgggaatata
      481 tgacatgaca tctgtgttac cttcagcaag tgcgtccaga gaagattttg taatttgttc
      541 tatttgtctt ttctgcttcc aggtctgtat gctttgctct gtgggctatc atcttttttc
      601 ctgccatcgg tcagaaaaaa catgtcgaag atggatggca ttagattatg caggaatttc
      661 tattggaata ctgggctgct atgtctcagg agtattttac gcattttatt gtaataacta
      721 ctggcgtcag gtgtacttga tcacagtgct tgctatgatc ctggcagtgt tctttgcgca
      781 gattcatccc aattacctca cgcagcaatg gcaaaggctc cgttctatca tcttttgttc
      841 tgtttcggga tatggagtga ttcctactct tcactgggtt tggctcaatg gaggaattgg
      901 tgctcctatt gtacaggact ttgcaccccg tgtaattgtg atgtatatga ttgctcttct
      961 tgctttccta ttctacattt ccaaagtccc agagcggtac tttccaggac aactaaacta
     1021 cctcggatca agccaccaaa tatggcatat ccttgcagta gtgatgttat attggtggca
     1081 tcagtcaaca gtgtatgtca tgcagtacag acatagcaag ccttgtcctg actatgtttc
     1141 acatttgtga attaggtatg gccacctggt gaattcagtt gttaagcaat atataatggg
     1201 gaattgtata ccccactatt tctaagattc ccattagttt tccctttttc ctttttaata
     1261 tgagtaatgc tttataaaaa tgggaaaaaa agtatactta aggatctgta gtaataactg
     1321 ctttacaaaa tccttaaaac tactaatttg ctgcttgtac agaaagtgaa aattagttgg
     1381 caatcataag aaacatctga ataacaacga tgaatgggaa actagtgttg aaataggatt
     1441 cattttactt agcaccagct taatttcctt aggaagggct catgtccatt agaaaatgga
     1501 gtcatcttat gtgcttaatt attttcagtt aattgtcaag tttaagtgcc taatcaaggc
     1561 aagtgttgtt tcagcctatg cttaatgcaa gctaggatag tgattttaaa taatcactaa
     1621 aatcactaga tttaaataat cactaaaatg atttgtgaga aactggcact tcagatatta
     1681 tatcctttag ctataggttc ttctctccct aagaacatta gatattttag ttttccagaa
     1741 caaaagcttt aaacttctgc agtaagttga gagaagggtt gagaagagga aaagaacttc
     1801 tcattttcta tcagataaga atcacattag aaactaagta caagattaga caacaaatta
     1861 tgtggtcaaa taatatagtc attagccacc taaacatttt aattccagat attatttaat
     1921 tccatataat aactgaattc ttgtgagtgg attacaggtt tttgatccca aaattccaga
     1981 gctttcaact ctctgaattt gtagtcctga atatcccagt ggtgggggtt cccagcattg
     2041 tgggtgctac ttgcaaggcc atagaatcta gatggccctg tcttgaccct gaaatgaacc
     2101 ttaagcctta gaacaaagtc atgcagatgc cccatttgat aataatctta ttcacctgtg
     2161 ctctggtcct cggtttctgc atgtgttagc attgcattga taactcagaa tcttgataaa
     2221 cacttaatat ttgggcctga agcattaaac tttcttttta ttgtatatac ttaaaaaata
     2281 gaactcactg ccctatcata cattgtagcc ctcttattct ttggtctttc atatgcatta
     2341 gttaaatccc ttaaagtaga cattcataaa aacttacatt gtttattgga gtataaaata
     2401 ttacccaagt ttcttcatga gttgacatga gctgttttaa atactggtgt attttcagaa
     2461 cagtaaaatt actgaatatc agaaaaaatg ttaattgatg atgaagctta ttcccaaaat
     2521 gccttttgtg catatgatac ttggaaagtc actaatgtgc ctcagttaat acatcagtaa
     2581 aatgttgtgt ttcttttcca gtgtagtgtt tttggaatat aaattcccca tgctagtata
     2641 gtatctcagc aaagagaatt tccccccagg aggctcagta aaggaatacc gtgtcttacc
     2701 catcgttatg atggaaggct gctttgaaaa tggctgtttt accttataag gttaaaattt
     2761 tgatccatat gttaagtgat agaagatttt ggtgcaacag tagtaggata tatttctcct
     2821 agaacatccc ttattggctt acatgatttt attgcctttt aatagatatt ttgtcatttt
     2881 ggccaaacaa aagacactga gtagttacac ttaagttaaa aatgagggga aaatcattat
     2941 tttaggtgtg gagccatttt tattataaaa ctttctcaaa ataaaaaaac attgaatcat
     3001 ttcaattttt gcagtccctg tattagtata tgaatacata cttgccattt gaattaataa
     3061 catgaaaaga gtatactgtg tttttaaatc cgtgtttctt tgaatttaaa gggtgtacag
     3121 gtctttctgt agggaaaatt attccatgta aacatttcaa ctctgtatga aaatgttaaa
     3181 tattgtaaga aagttatcct ctcatttttt cactgctatg atatatttat tataaaatag
     3241 ggaatgaatg aatgaatatg gattgctgtt aactagaaac acttctgtat gtcagtcagc
     3301 atttaatgac cacctactgt gtgcacagca ctactggtaa aattttgaag acattgttaa
     3361 cattaaaaaa tattttaaag ttgtctacaa atctgagcct tgtaatgatg tatatttaag
     3421 ttatttttgt ttttatagat taaagtaaga ttaaaatata ctatccagtt ttattactaa
     3481 aaaagactgg ttttaatttt accaatgtgt gaactataaa agctttttgc ctacagattt
     3541 tacattttaa aattatctat ggctgtttta aattgtctag caatttatat ggttgtggtt
     3601 aactcattta agaaacaatt atctttctat attaagccat tttcaaatag caagacagtg
     3661 cttgtctttt tttgttatta cactaactgc aattcagtaa gctgcatgac aaaatatgta
     3721 ttatgtaaat aaactgggtt tactaaatat ttttaactgc tgcttgtcat tctttgtaat
     3781 acataacagc tttaaaatca tattttagaa tcaggaacga agattcaggg aatgtctgtc
     3841 acatcttatg gcatcccacc tggacagaat atccgatttg aagattgtga ttgacttccg
     3901 taaaactgta caactctcca tttggcaggt acctactaga taatactttg ccctgtatta
     3961 aatgtcaagg ggcaaagcct attcctgtga attcctgctg gttgctttgc tgcattaggt
     4021 ccctgtccac tgtaaatcat cattcctggg aattctactt ctgcccaagt gtgtaaagaa
     4081 tcagctcacc tattagagaa ggggtagaaa taccttctgt gtgcattatc acaataactg
     4141 tgtttacact aaagaggtgt aaatacagtc ctctgaaatt ttgtaccaga attcccaagt
     4201 agtgtaatga gataatgatc cagaactgaa actaccctta agaaaacatt tttggaaggg
     4261 agaggtaaat agcagtaggg ggtttcttgt gaaaaattaa cctccatcct taagagggct
     4321 gaaatgaaca gccaccaagg ttctagtcct gctctataaa atctgagatc aaaatactac
     4381 ctaacctgca cataatctca attgtgacaa ccatctgaac tatctcattt aatatgtaac
     4441 aacaaataca agctcaagct ttcaatatga gaatattaac tacatgttac atatgatgct
     4501 tgacctgggc ttccttaaaa aggtattcgt tatccaaaat aaatagctca aattgcagca
     4561 tatattcatc tcaagtaact ataactgaat ttgaacagta atacactgca aactattctt
     4621 tgttaataga acttttctaa tcatttgtgt tattttgctt tgtaccattc attttcatta
     4681 aaaagataca aagccccttt ttttcacata actttagata aatgttacaa cttcagaaaa
     4741 agttaattca taaaaatagg atgaaccttt ccacaggcta ccaaagactc cagtttttgg
     4801 aataatacat attataacct tgatgccaag cttagtccat caatccaata aataggtttt
     4861 ctctttaatg tgtcatagcc tcttttctga tataattgag gattacaatg ttatttaagc
     4921 aaataaccag tattaattca gccaaagatg ttatcagttt taaagatttt taaaaattta
     4981 taatgtggaa gctgtaaaat aagttattca gaaggcacta cacaatattg tttttgcctt
     5041 actgtcatca ctcgagtatc agtaattatg actcactgaa aaagtcgtgc tattaagtgt
     5101 tcttgtggca aaaactctta agtcaaatgg gttttcttac ctaaattgta aactctgagc
     5161 tccttaagaa tagggatcta atcttagcaa cttttctatt ccactagctg ctacataata
     5221 ggtgcttaat gtttgtggtg tgaatgaaat aactgaattt gaatagaagt ttacatccaa
     5281 aagtcataat aagacaaata atgaaaaact ccaaagtcac tgattataaa gaatatgcaa
     5341 tccatttggg atttattgca tttaaagaaa acagattaaa acaggtatga taaatacagt
     5401 aagaaaataa ctttaaattt caaacaaaac agtgaatcag ggacagaatt cagtcaaaaa
     5461 gaataagcag tgtaaaggca ataaagtaat aaaatcagtt agtgcttaat tagatatggc
     5521 aggggaaaag gggtgggagg gggagactga gtctatctca taattgtttc ccagctatat
     5581 ttgaggactg aagttacttt agcaagtatg ttttgtaaca agtagaaata caataaagat
     5641 gtaaatttgc tttatttaaa ggttaaagtt atttgcttag tggtacataa aaggcttcag
     5701 aaaattcaag tttaacaaaa aatggaagtg taatcaaaga aagtgcactt aaagctgttt
     5761 gccagcaatt aaaaagtagc ttctatacag cttctattag atgacttttc aatcacaaaa
     5821 agagcatagt cataaaaaca attctttcaa aagtagcagt ataaatttta aaataaaaca
     5881 aaaataaccc caaatcatga ccctttgcat tatcatctac cttattctct tagtagcttt
     5941 tgtaaaccct cactaggagt gaatgttctc ttagatatga ttgtggttgc aattccattt
     6001 tttaaaaatt cacattaact ccacagtaga gagatgtgac atgcatgtgt gtacatattt
     6061 ttatcttaat atataaaaca ccactgagta taaaagttct caaataaact attcatcatt
     6121 tatggtattc tcacagtaga tatgtcatct cattctcaca gtagactgtc aactcaataa
     6181 ttggacctaa aataacaagt ttgctaaaaa gaaaaaaaaa tgagaaaaaa gtttactgca
     6241 cattctaaat atattaaaaa caaatgtacc caagcgcctc aaaactagtg atattaatac
     6301 acttgtacct tctaacagtg cttacgtgaa gtaccaaaac ctaaaataaa ccaagcagag
     6361 tagctgactt gtaagaaaac tgctctgcct ggtgaacttc agcatagaag agtgggctcc
     6421 accttagatt ttccaccagc aagaggacaa cagtctatca ctcttaaaca ataaacaggg
     6481 taagactgaa agttgtgtct atttgcaaat ccggataatg tcgtaactat acccaacacg
     6541 tacacaggga ttggggtaag ggaaaataat tacactcctg aataaatgtt ctagtcagtt
     6601 aaattttcat ccggcctaca acctttcctc ctccacctat tatacttacc atgcaatttt
     6661 tgtgtcttag cagatacatt cttcaatgcc ataaaaagct gatcttttta atactaacat
     6721 tttactgacg tgatattaaa ataagcaaat ggtccacttt ttaaaggatt attcaaaatc
     6781 aacaagcatt attaaagctg ttaagaaaca actttggcct caagattttt gctagcttca
     6841 taataattta cttctcttag tgatgttcaa gtataacagg tttagttata actacatcct
     6901 aaagaagcac aggggacacc caaataatat tagggaaaaa aaaccccaaa tatatatata
     6961 tatatatatt tgcttagtgg tacatatata ataacctttc ttccttcctt aaaccagaat
     7021 tgaaccatcc cataatagag ccaaactttt attgagtgct gtgtgccagg tactgtgtta
     7081 agcactttca catatcttgg gagctttatt ctcataattc tcacaaggga ataacctgag
     7141 catcagctgt gtggagtgac ctacaccttg accatgattc tgggggatga tgaatgaaaa
     7201 tgcaaagtat aaatctatac tccttaggaa aatgcctcta ctacaacaca aaggaatctc
     7261 tccatttcta tcctattgaa cccccaattg aatcctgtat cttttctctg agctacaatc
     7321 ttgaaagaag aaagtcactg tgctgtgtta taagaatgta aatattttat gctgtcagtt
     7381 gtttcctcag aatttataag tcaaagggtc tacatcagtg tcagaatcat ttaaaattat
     7441 tcagtgtatt gaaaagcaag taaaactcta ggtatttcat gtttacatct gaaggagaca
     7501 ttagttcatc ctctacccct tttctaaatg atgaaactca tgaggtctag cagagaccaa
     7561 ggactaatac aatcaagaag catattgtgt acacctcaac agattttcat taaaaaaaat
     7621 tgtttgatac aaacctactg tagttcatga atttactatg tgtaatcatc aactcttcac
     7681 ttttaaaaga aagtatcact tgaatctatt ttgtaaagtt tttaaacatc tacttgagca
     7741 tttgcattag cagtattaat caacctgaga atcagaaaaa aaaaaaaagg tgcaaacata
     7801 tttgcctttg gcacgaggac aagtaattgg tgcagtccag ctctaaataa taatgtaatg
     7861 cttggtctgc ctctgctaca ttgtgattca catattgctt ccctatccac aaatctatat
     7921 ttgatttagc atataaaaga agggaaaaag caataaaaag acaaatatgt ggtttagtta
     7981 catatacttt gcttctttcc aagttcagaa ctgtgaaaat aggcaaatag cttatcccat
     8041 tggggcacta taagagattc ctaataaaat tactcgtaaa atatactttg agatcgaaga
     8101 gagttaattt aaaatataaa aatcaaagag agtgccagtt gatgagtttc tactcctttc
     8161 tgtaaatagc attaactgtt ctagaaactt ccaaatgtta atctgatagc gcagcacaat
     8221 tatatcttaa aatagtcata gacacaggaa gcacagatac tatattcaca ttaattcaca
     8281 tatgtaatct ctatcattaa atgatttcta taaaacctca agtttctaat taggatttgt
     8341 ggtgtaaaaa aaggcaaatt ggtagctggg ttcttttcag taaagacaca atcaactagc
     8401 agaattaaga tgctagtcca ccttatatgc attttaggat ctggtatatt agtgcagagg
     8461 tacttgcagc aggatgcatg aatcctgcct ttatataagg ctttgtgggt gtcaccattc
     8521 tgtgcacttt attaaaacta ctccaccccc caaaacctaa taaaaataat tgttgcttat
     8581 gacttgggga atatttggtg aagttgctaa taaagtacat tgttaaatgc aacatgattt
     8641 cacattgtaa atgtcttgaa aattcagttt ccgctacata ttttcttcat aaaataaaat
     8701 ttttatacaa cccttgtcct ccaatttttc caataatctg ctttattagg gccatcacaa
     8761 taaaagtttg gggcaagaag ccatgcataa agtgtttcta aagtagtgaa tgttttctgt
     8821 tctgtatctt tttttcttct tataatttct ttacaaatgt cagatatttc tcttcatatt
     8881 tttgttctag gcttctgtgc gacgatagtc cattttttta atttgtttta actgacaaaa
     8941 attatatata tttatcatgt ataacattgt tttggaatat gtaagttgtg gaatagttaa
     9001 attgagctaa ttacacatta tttcatatgc ttatcattag atattccatt ttaatggcac
     9061 ttgtttttaa aaatgaaaca gagttttagg cacaatagtc agttacttct ggctctgctt
     9121 tgtggagaaa ggtgtatgga ctgaaatctc tgcactctcc agataataac tttctaatgc
     9181 tttaagataa ctagattgtt tttaactgtc tggaaattaa aagagacctt aaaaaaaatt
     9241 cacaagtgta actagtgtat gtagaaataa ccctaatttt agggatatgc acataaaaat
     9301 gacattctga tatcaaaaat aacagtttca ctgtcccttc tcagtggcta cacacctaga
     9361 aaggtgccat gtgctttcac tggaagtacc acacttgcat ttctgtgttg tgatgtcagt
     9421 agcagaaacc cttagttaga gcttgcaatt tagctccctt ttctcctgaa gaggaatcaa
     9481 gttactaccc tgtagagata cttcattctt ctatttggtt tatttagaaa tcacctattc
     9541 tgactgatct ttaagaatga atgctataaa gagctaccaa attttctttc aaattcataa
     9601 aactgttcac acttttttga aacaggagtt aatgccgaga atccatcaga agtatctact
     9661 gtttagaagg aaatggagca gcaccaaatg ggtctaattc gactggttgg gactgttggg
     9721 actgatgtgg agtgatgctt tgcaccacaa gttctgtaaa gggcacggca ccaaaatcat
     9781 ccattttcaa tacatctgca ctatggaatg a
//
LOCUS       NM_001040214            3374 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens sodium/potassium transporting ATPase interacting 2
            (NKAIN2), transcript variant 1, mRNA.
ACCESSION   NM_001040214
VERSION     NM_001040214.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3374)
  AUTHORS   Zhang G, Liu D, Long G, Shi L, Qiu H, Hu G, Hu G and Liu S.
  TITLE     Downregulation of microRNA-181d had suppressive effect on pancreatic
            cancer development through inverse regulation of KNAIN2
  JOURNAL   Tumour Biol 39 (4), 1010428317698364 (2017)
   PUBMED   28381166
  REMARK    GeneRIF: Inhibiting miR-181d may suppress pancreatic cancer
            development, possibly through the inverse regulation on NKAIN2.
REFERENCE   2  (bases 1 to 3374)
  AUTHORS   Mao X, Luo F, Boyd LK, Zhou B, Zhang Y, Stankiewicz E, Marzec J,
            Vasiljevic N, Yu Y, Feng N, Xu J, Lorincz A, Jiang Y, Chelala C, Ren
            G, Berney DM, Zhao SC and Lu YJ.
  TITLE     NKAIN2 functions as a novel tumor suppressor in prostate cancer
  JOURNAL   Oncotarget 7 (39), 63793-63803 (2016)
   PUBMED   27588475
  REMARK    GeneRIF: NKAIN2 is a novel tumor suppressor gene whose activity is
            commonly reduced in prostate cancer
REFERENCE   3  (bases 1 to 3374)
  AUTHORS   Garner C, Ahn R, Ding YC, Steele L, Stoven S, Green PH, Fasano A,
            Murray JA and Neuhausen SL.
  TITLE     Genome-wide association study of celiac disease in North America
            confirms FRMD4B as new celiac locus
  JOURNAL   PLoS One 9 (7), e101428 (2014)
   PUBMED   24999842
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3374)
  AUTHORS   Hatemi PK, Medland SE, Klemmensen R, Oskarsson S, Littvay L, Dawes
            CT, Verhulst B, McDermott R, Norgaard AS, Klofstad CA, Christensen
            K, Johannesson M, Magnusson PK, Eaves LJ and Martin NG.
  TITLE     Genetic influences on political ideologies: twin analyses of 19
            measures of political ideologies from five democracies and
            genome-wide findings from three populations
  JOURNAL   Behav Genet 44 (3), 282-294 (2014)
   PUBMED   24569950
REFERENCE   5  (bases 1 to 3374)
  AUTHORS   Romania P, Castellano A, Surace C, Citti A, De Ioris MA, Sirleto P,
            De Mariano M, Longo L, Boldrini R, Angioni A, Locatelli F and Fruci
            D.
  TITLE     High-resolution array CGH profiling identifies Na/K transporting
            ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in
            neuroblastoma
  JOURNAL   PLoS One 8 (10), e78481 (2013)
   PUBMED   24205241
  REMARK    GeneRIF: High levels of NKAIN2 were detected in the MYCN-amplified
            NB cell lines. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3374)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3374)
  AUTHORS   Gorokhova S, Bibert S, Geering K and Heintz N.
  TITLE     A novel family of transmembrane proteins interacting with beta
            subunits of the Na,K-ATPase
  JOURNAL   Hum Mol Genet 16 (20), 2394-2410 (2007)
   PUBMED   17606467
REFERENCE   8  (bases 1 to 3374)
  AUTHORS   Yue Y, Stout K, Grossmann B, Zechner U, Brinckmann A, White C, Pilz
            DT and Haaf T.
  TITLE     Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3)
            presenting in a child with developmental delay and recurrent
            infections
  JOURNAL   J Med Genet 43 (2), 143-147 (2006)
   PUBMED   15908570
  REMARK    GeneRIF: It is concluded that germline alterations of the TCBA1 gene
            are associated with developmental delay and typical physical
            features.
REFERENCE   9  (bases 1 to 3374)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   10  (bases 1 to 3374)
  AUTHORS   Tagawa H, Miura I, Suzuki R, Suzuki H, Hosokawa Y and Seto M.
  TITLE     Molecular cytogenetic analysis of the breakpoint region at 6q21-22
            in T-cell lymphoma/leukemia cell lines
  JOURNAL   Genes Chromosomes Cancer 34 (2), 175-185 (2002)
   PUBMED   11979551
  REMARK    GeneRIF: T-cell lymphoma breakpoint associated target 1 is a
            possible target gene for T-cell lineage-specific chromosome
            aberrations at 6q21.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.231264.1,
            SRR1660805.67143.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368417.6/ ENSP00000357402.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL354936.21, AK055326.1 and
            BC035062.2.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001040214.2.
            Summary: This gene encodes a transmembrane protein that interacts
            with the beta subunit of a sodium/potassium-transporting ATPase. A
            chromosomal translocation involving this gene is a cause of
            lymphoma. Alternative splicing results in multiple transcript
            variants encoding distinct isoforms. [provided by RefSeq, Jul
            2014].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3374
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.31"
     gene            1..3374
                     /gene="NKAIN2"
                     /gene_synonym="FAM77B; NKAIP2; TCBA; TCBA1"
                     /note="sodium/potassium transporting ATPase interacting 2"
                     /db_xref="GeneID:154215"
                     /db_xref="HGNC:HGNC:16443"
                     /db_xref="MIM:609758"
     misc_feature    265..267
                     /gene="NKAIN2"
                     /gene_synonym="FAM77B; NKAIP2; TCBA; TCBA1"
                     /note="upstream in-frame stop codon"
     CDS             337..963
                     /gene="NKAIN2"
                     /gene_synonym="FAM77B; NKAIP2; TCBA; TCBA1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sodium/potassium-transporting ATPase subunit
                     beta-1-interacting protein 2; T-cell lymphoma
                     breakpoint-associated target protein 1;
                     Na(+)/K(+)-transporting ATPase subunit beta-1-interacting
                     protein 2; Na+/K+ transporting ATPase interacting 2"
                     /codon_start=1
                     /product="sodium/potassium-transporting ATPase subunit
                     beta-1-interacting protein 2 isoform 1"
                     /protein_id="NP_001035304.1"
                     /db_xref="CCDS:CCDS34526.1"
                     /db_xref="GeneID:154215"
                     /db_xref="HGNC:HGNC:16443"
                     /db_xref="MIM:609758"
                     /translation="MGYCSGRCTLIFICGMQLVCVLERQIFDFLGYQWAPILANFVHII
                     IVILGLFGTIQYRPRYITGYAVWLVLWVTWNVFVICFYLEAGDLSKETDLILTFNISMH
                     RSWWMENGPGCTVTSVTPAPDWAPEDHRYITVSGCLLEYQYIEVAHSSLQIVLALAGFI
                     YACYVVKCITEEEDSFDFIGGFDSYGYQGPQKTSHLQLQPMYMSK"
     misc_feature    337..405
                     /gene="NKAIN2"
                     /gene_synonym="FAM77B; NKAIP2; TCBA; TCBA1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXU1.1);
                     transmembrane region"
     misc_feature    439..501
                     /gene="NKAIN2"
                     /gene_synonym="FAM77B; NKAIP2; TCBA; TCBA1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXU1.1);
                     transmembrane region"
     misc_feature    520..582
                     /gene="NKAIN2"
                     /gene_synonym="FAM77B; NKAIP2; TCBA; TCBA1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXU1.1);
                     transmembrane region"
     misc_feature    607..612
                     /gene="NKAIN2"
                     /gene_synonym="FAM77B; NKAIP2; TCBA; TCBA1"
                     /note="Breakpoint for interstitial deletion to form
                     SUSP1-NKAIN2; propagated from UniProtKB/Swiss-Prot
                     (Q5VXU1.1); other site"
     misc_feature    793..855
                     /gene="NKAIN2"
                     /gene_synonym="FAM77B; NKAIP2; TCBA; TCBA1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXU1.1);
                     transmembrane region"
     regulatory      3354..3359
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NKAIN2"
                     /gene_synonym="FAM77B; NKAIP2; TCBA; TCBA1"
                     /note="hexamer: AATAAA"
     polyA_site      3374
                     /gene="NKAIN2"
                     /gene_synonym="FAM77B; NKAIP2; TCBA; TCBA1"
                     /note="major polyA site"
ORIGIN
        1 agatgcccga gggcgcggcg gcgctgccag gctgccgctg ctgcccctgc gggccccgag
       61 cgcgcctccg caggcggcac tgcccgcggc gcggcgtgtg caccgagcga gtgaaggtat
      121 gtgtggcggg cgcggctgga gctgccgccg ccgccgccgc cgcgccagca ggtcctaatg
      181 cctgtcactt cccaggacgc tggcagcagc agcagcccgg agcccccgag ccctcggcag
      241 gtttgcgtgt ccttccccgc gatctgattg gataaagtgg gggctcgacg gtggccgacg
      301 tgggacagtc tggctgtggc aggggtctcg gaaaccatgg gttattgcag tggcaggtgc
      361 acgcttatct ttatctgtgg catgcaactg gtttgtgtgc tggagaggca aatatttgac
      421 ttccttggat atcagtgggc acctatcctg gcaaattttg tacatattat tatcgtcatt
      481 cttggtttgt ttggaactat tcaatataga cctcgttaca taacaggata tgctgtctgg
      541 ctagtcctct gggttacgtg gaatgtgttt gttatctgct tctatttgga ggctggggac
      601 ctctcaaagg aaacagacct tatcctgact tttaatatat caatgcaccg atcttggtgg
      661 atggagaatg gaccaggatg tacggtgacg tcagtgacac ctgccccaga ctgggcccca
      721 gaagaccatc gctacatcac ggtctcaggg tgtttgctgg agtaccagta catagaagtg
      781 gctcatagtt ccctccagat tgtcctcgca ctggcaggtt tcatctacgc ctgttatgtt
      841 gtgaaatgta taactgaaga agaggacagc tttgatttca taggtggctt tgactcttat
      901 ggctatcaag ggcctcagaa gacatctcat ttacaactac agcctatgta catgtcaaaa
      961 taatacagat gacttcagta tgtcagccca tggacctttc aaagaacttt tttcgcagtg
     1021 gcctcctgca tttcatgaag agcaagaagc aactgagttt aaatacatac acgtattaac
     1081 aaaacaaatg caaagcctct acatacaaca ctgacacaca cacacacaca cacgtgagca
     1141 cgcacacacc aattccactt gacctcctct ttctaactga aacagacaaa tatgcaggac
     1201 acgcccatct tggatttcct gaaagcaggc ccctttctcc caggccttcg gaaagttcag
     1261 aaggagatgt gttgatgccc aacggttgcc ggccattgct aactcctctg cagcccagcg
     1321 ggttggcctc tgtgagctgg gaagtcatcc aaggcacatt agtttgagag ctctgtcttc
     1381 tgcactccat acatcttgac agcaccacgg ctacttaggc aatgtaattg caaaaacaaa
     1441 cgaaacatgc catgatgacc ttgtacccga agtccgaaat ggcagattgt ttgccctaaa
     1501 ggctgtaccg tacatacttg ccttaaccca cctacattgt gtgcccaaga atcccagtgc
     1561 agacagcccc aagccacttc ctttaggcta acacactgct attaattcta aatgagttca
     1621 agcctgtgtg tttcatgtca aggaacaaga ctgaatagct cagcagctcc agtgtgtctg
     1681 tataagaaaa gtgccagctg tcagcaaagt gctttaccat agagcctcca tggtggccca
     1741 aaagagacaa gtaacaataa caatatctgt catctttata attctaaaat atggtcttct
     1801 gatggggttg ggggtgggac agagtaaaac attaatctac taaactcact aatctactgg
     1861 aagcagaaag cagaaatggc ttaactcgct gattttattt attgcactct aggtgctttt
     1921 ataagtatct acaattgtct tttactaaca cagaaacagc tgtggatttc tatcaacaga
     1981 ggccaactga atatgtatta gctatgttta ctcttttata tctaattcaa attgaagact
     2041 ctacgtaggt gaactttttt ttctaacttc agtgtacaag attatttttg ggtgggtggg
     2101 gggagcaata gttaccttgg tgaaatattt gagatctttt tgtggtattt gggggatctg
     2161 ttgtgtgtta gagtgtattt caaccctcct gtattattgt ggcagaaaaa ctgtgctgtt
     2221 aacgtagttg gcaacaagat gcctttggaa acttaatagt aggtcaatgt gtttatggaa
     2281 tattctgaac tcctaggaaa ttttgttcta tattttaaag cattatttgg ttttcattag
     2341 tggaaaacat aattagctca ggcttatcag gaactcagat gagtcatatt ttttcttgga
     2401 tacacctgag acattaaact caatttttta aaactaacac accattcttt agtgcagtga
     2461 aattcaaaag ttataaattg gcatggagca agttttttct ttgatttcta tgaagtttca
     2521 gttattggat taaactactt tagaccttag cccattcgga tctacataca ccagttccat
     2581 tactgtgttt gcatggatgt ctgtaatata cacacacata tacatttgaa aatgatagag
     2641 gaacaaagag ttatcattgg aacataaact ataaaaaaag attccagcac tcatgcttga
     2701 atttcctcag tgggttgtat gtttgtccat acatacatgt ataaaataaa caattgcaaa
     2761 catgtcagtg aaacctcata tgacgctttt atagtgacat gcatgtttaa tgtatgagaa
     2821 aaatatttac caatgtattg tcctttgagt cctaaaatat aaatactata catgccagaa
     2881 actattctaa tgtgactttt aatgtgacta ttaaaaatga ggtttcactg tacattcatg
     2941 ctgtgatgcg atttcacctt atagtacatg tatatgggta cagaaaataa accctcatat
     3001 tcctgcttta agttacagcc aagttttcac caaatcacaa ctatcatcac caccaaaatt
     3061 ttaaaaaaca gtagttgact actaaaaagt aatcagtgga caggtcattt atgggatcag
     3121 taagcacagt agtgtgatta tatctgggaa aacatctaca gttgtacagc tgtatcctcc
     3181 tcaaaatccg gtgaagaatg ctatttttct aggctgagct tttgttataa acttaatatt
     3241 cagaaggcaa gggttatgat cctgatgtgt cctttttttt tgcatttgtt aattctgaat
     3301 gtatttttaa cagaatgatt tttttgactt actagtgtaa tttgcatttt aaaaataaat
     3361 ggaaaaatac ttaa
//
LOCUS       NM_001040260            4075 bp    mRNA    linear   PRI 13-MAY-2023
DEFINITION  Homo sapiens doublecortin like kinase 2 (DCLK2), transcript variant
            1, mRNA.
ACCESSION   NM_001040260
VERSION     NM_001040260.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4075)
  AUTHORS   Song J, Merrill RA, Usachev AY and Strack S.
  TITLE     The X-linked intellectual disability gene product and E3 ubiquitin
            ligase KLHL15 degrades doublecortin proteins to constrain neuronal
            dendritogenesis
  JOURNAL   J Biol Chem 296, 100082 (2021)
   PUBMED   33199366
REFERENCE   2  (bases 1 to 4075)
  AUTHORS   Nawabi H, Belin S, Cartoni R, Williams PR, Wang C, Latremoliere A,
            Wang X, Zhu J, Taub DG, Fu X, Yu B, Gu X, Woolf CJ, Liu JS, Gabel
            CV, Steen JA and He Z.
  TITLE     Doublecortin-Like Kinases Promote Neuronal Survival and Induce
            Growth Cone Reformation via Distinct Mechanisms
  JOURNAL   Neuron 88 (4), 704-719 (2015)
   PUBMED   26526391
REFERENCE   3  (bases 1 to 4075)
  AUTHORS   Jones RM, Cadby G, Melton PE, Abraham LJ, Whitehouse AJ and Moses
            EK.
  TITLE     Genome-wide association study of autistic-like traits in a general
            population study of young adults
  JOURNAL   Front Hum Neurosci 7, 658 (2013)
   PUBMED   24133439
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4075)
  AUTHORS   Shin E, Kashiwagi Y, Kuriu T, Iwasaki H, Tanaka T, Koizumi H,
            Gleeson JG and Okabe S.
  TITLE     Doublecortin-like kinase enhances dendritic remodelling and
            negatively regulates synapse maturation
  JOURNAL   Nat Commun 4, 1440 (2013)
   PUBMED   23385585
REFERENCE   5  (bases 1 to 4075)
  AUTHORS   Fox CS, Liu Y, White CC, Feitosa M, Smith AV, Heard-Costa N, Lohman
            K, Johnson AD, Foster MC, Greenawalt DM, Griffin P, Ding J, Newman
            AB, Tylavsky F, Miljkovic I, Kritchevsky SB, Launer L, Garcia M,
            Eiriksdottir G, Carr JJ, Gudnason V, Harris TB, Cupples LA and
            Borecki IB.
  CONSRTM   GIANT Consortium; MAGIC Consortium; GLGC Consortium
  TITLE     Genome-wide association for abdominal subcutaneous and visceral
            adipose reveals a novel locus for visceral fat in women
  JOURNAL   PLoS Genet 8 (5), e1002695 (2012)
   PUBMED   22589738
REFERENCE   6  (bases 1 to 4075)
  AUTHORS   Kerjan G, Koizumi H, Han EB, Dube CM, Djakovic SN, Patrick GN, Baram
            TZ, Heinemann SF and Gleeson JG.
  TITLE     Mice lacking doublecortin and doublecortin-like kinase 2 display
            altered hippocampal neuronal maturation and spontaneous seizures
  JOURNAL   Proc Natl Acad Sci U S A 106 (16), 6766-6771 (2009)
   PUBMED   19342486
REFERENCE   7  (bases 1 to 4075)
  AUTHORS   Gorelik A, Sapir T and Reiner O.
  TITLE     Gene trapping: an antibody-dependent approach for verifying
            integration in your favorite gene
  JOURNAL   Cell Mol Biol Lett 13 (4), 614-620 (2008)
   PUBMED   18618084
REFERENCE   8  (bases 1 to 4075)
  AUTHORS   Tuy FP, Saillour Y, Kappeler C, Chelly J and Francis F.
  TITLE     Alternative transcripts of Dclk1 and Dclk2 and their expression in
            doublecortin knockout mice
  JOURNAL   Dev Neurosci 30 (1-3), 171-186 (2008)
   PUBMED   18075264
REFERENCE   9  (bases 1 to 4075)
  AUTHORS   Reiner O, Coquelle FM, Peter B, Levy T, Kaplan A, Sapir T, Orr I,
            Barkai N, Eichele G and Bergmann S.
  TITLE     The evolving doublecortin (DCX) superfamily
  JOURNAL   BMC Genomics 7, 188 (2006)
   PUBMED   16869982
  REMARK    Publication Status: Online-Only
REFERENCE   10  (bases 1 to 4075)
  AUTHORS   Edelman AM, Kim WY, Higgins D, Goldstein EG, Oberdoerster M and
            Sigurdson W.
  TITLE     Doublecortin kinase-2, a novel doublecortin-related protein kinase
            associated with terminal segments of axons and dendrites
  JOURNAL   J Biol Chem 280 (9), 8531-8543 (2005)
   PUBMED   15611072
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB209181.1, SRR7346977.2549475.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000296550.12/ ENSP00000296550.7
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB209181.1, DA122884.1,
            AC093748.3 and AI419589.1.
            On Nov 23, 2018 this sequence version replaced NM_001040260.3.
            Summary: This gene encodes a member of the protein kinase
            superfamily and the doublecortin family. The protein encoded by
            this gene contains two N-terminal doublecortin domains, which bind
            microtubules and regulate microtubule polymerization, a C-terminal
            serine/threonine protein kinase domain, which shows substantial
            homology to Ca2+/calmodulin-dependent protein kinase, and a
            serine/proline-rich domain in between the doublecortin and the
            protein kinase domains, which mediates multiple protein-protein
            interactions. The microtubule-polymerizing activity of the encoded
            protein is independent of its protein kinase activity. Mouse
            studies show that the DCX gene, another family member, and this
            gene share function in the establishment of hippocampal
            organization and that their absence results in a severe epileptic
            phenotype and lethality, as described in human patients with
            lissencephaly. Multiple alternatively spliced transcript variants
            have been identified. [provided by RefSeq, Sep 2010].
            Transcript Variant: This variant (1) is known as exon-5-lacking
            transcript (PMIDs:15611072 and 18075264). It lacks an in-frame
            coding exon in the 5' region, as compared to variant 2. The
            resulting isoform (a) lacks an internal segment, as compared to
            isoform b.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4075
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.23-q31.3"
     gene            1..4075
                     /gene="DCLK2"
                     /gene_synonym="CL2; CLICK-II; CLICK2; CLIK2; DCAMKL2;
                     DCDC3; DCDC3B; DCK2"
                     /note="doublecortin like kinase 2"
                     /db_xref="GeneID:166614"
                     /db_xref="HGNC:HGNC:19002"
                     /db_xref="MIM:613166"
     misc_feature    491..493
                     /gene="DCLK2"
                     /gene_synonym="CL2; CLICK-II; CLICK2; CLIK2; DCAMKL2;
                     DCDC3; DCDC3B; DCK2"
                     /note="upstream in-frame stop codon"
     CDS             584..2884
                     /gene="DCLK2"
                     /gene_synonym="CL2; CLICK-II; CLICK2; CLIK2; DCAMKL2;
                     DCDC3; DCDC3B; DCK2"
                     /EC_number="2.7.11.1"
                     /note="isoform a is encoded by transcript variant 1;
                     doublecortin and CaM kinase-like 2;
                     serine/threonine-protein kinase DCLK2; CaMK-like CREB
                     regulatory kinase 2; doublecortin-like and CAM kinase-like
                     2; doublecortin domain-containing protein 3B"
                     /codon_start=1
                     /product="serine/threonine-protein kinase DCLK2 isoform a"
                     /protein_id="NP_001035350.2"
                     /db_xref="CCDS:CCDS34076.1"
                     /db_xref="GeneID:166614"
                     /db_xref="HGNC:HGNC:19002"
                     /db_xref="MIM:613166"
                     /translation="MASTRSIELEHFEERDKRPRPGSRRGAPSSSGGSSSSGPKGNGLI
                     PSPAHSAHCSFYRTRTLQALSSEKKAKKARFYRNGDRYFKGLVFAISSDRFRSFDALLI
                     ELTRSLSDNVNLPQGVRTIYTIDGSRKVTSLDELLEGESYVCASNEPFRKVDYTKNINP
                     NWSVNIKGGTSRALAAASSVKSEVKESKDFIKPKLVTVIRSGVKPRKAVRILLNKKTAH
                     SFEQVLTDITEAIKLDSGVVKRLCTLDGKQVTCLQDFFGDDDVFIACGPEKFRYAQDDF
                     VLDHSECRVLKSSYSRSSAVKYSGSKSPGPSRRSKSPASVNGTPSSQLSTPKSTKSSSS
                     SPTSPGSFRGLKQISAHGRSSSNVNGGPELDRCISPEGVNGNRCSESSTLLEKYKIGKV
                     IGDGNFAVVKECIDRSTGKEFALKIIDKAKCCGKEHLIENEVSILRRVKHPNIIMLVEE
                     METATELFLVMELVKGGDLFDAITSSTKYTERDGSAMVYNLANALRYLHGLSIVHRDIK
                     PENLLVCEYPDGTKSLKLGDFGLATVVEGPLYTVCGTPTYVAPEIIAETGYGLKVDIWA
                     AGVITYILLCGFPPFRSENNLQEDLFDQILAGKLEFPAPYWDNITDSAKELISQMLQVN
                     VEARCTAGQILSHPWVSDDASQENNMQAEVTGKLKQHFNNALPKQNSTTTGVSVIMNTA
                     LDKEGQIFCSKHCQDSGRPGMEPISPVPPSVEEIPVPGEAVPAPTPPESPTPHPPPAAP
                     GGERAGTWRRHRD"
     misc_feature    584..718
                     /gene="DCLK2"
                     /gene_synonym="CL2; CLICK-II; CLICK2; CLIK2; DCAMKL2;
                     DCDC3; DCDC3B; DCK2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N568.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    764..766
                     /gene="DCLK2"
                     /gene_synonym="CL2; CLICK-II; CLICK2; CLIK2; DCAMKL2;
                     DCDC3; DCDC3B; DCK2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N568.4); phosphorylation site"
     misc_feature    1481..1717
                     /gene="DCLK2"
                     /gene_synonym="CL2; CLICK-II; CLICK2; CLIK2; DCAMKL2;
                     DCDC3; DCDC3B; DCK2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N568.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1667..1669
                     /gene="DCLK2"
                     /gene_synonym="CL2; CLICK-II; CLICK2; CLIK2; DCAMKL2;
                     DCDC3; DCDC3B; DCK2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N568.4); phosphorylation site"
     misc_feature    2522..2524
                     /gene="DCLK2"
                     /gene_synonym="CL2; CLICK-II; CLICK2; CLIK2; DCAMKL2;
                     DCDC3; DCDC3B; DCK2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5MPA9; propagated from
                     UniProtKB/Swiss-Prot (Q8N568.4); phosphorylation site"
     misc_feature    2579..2581
                     /gene="DCLK2"
                     /gene_synonym="CL2; CLICK-II; CLICK2; CLIK2; DCAMKL2;
                     DCDC3; DCDC3B; DCK2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q5MPA9; propagated from
                     UniProtKB/Swiss-Prot (Q8N568.4); phosphorylation site"
     misc_feature    2702..2881
                     /gene="DCLK2"
                     /gene_synonym="CL2; CLICK-II; CLICK2; CLIK2; DCAMKL2;
                     DCDC3; DCDC3B; DCK2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N568.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4050..4055
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCLK2"
                     /gene_synonym="CL2; CLICK-II; CLICK2; CLIK2; DCAMKL2;
                     DCDC3; DCDC3B; DCK2"
                     /note="hexamer: AATAAA"
     polyA_site      4075
                     /gene="DCLK2"
                     /gene_synonym="CL2; CLICK-II; CLICK2; CLIK2; DCAMKL2;
                     DCDC3; DCDC3B; DCK2"
                     /note="major polyA site"
ORIGIN
        1 agacacggcc ctctcagccc cgaacggcgc gcgctgcccg gcgggcggga tccgggcgcg
       61 gccgaggcgg cggcgctgca ccccgggcct gggcccgcgc gactcccccg ggggcctctc
      121 ccacgctccg cgccccgccc cacccttcct tccttcctcc cctcggcgct cccgggagcg
      181 ctcggcagac gcccgagctt tgtgggcgcc cgcgggccca gcgcgagcct cgggcggccc
      241 aactttgcct ctcccggtcg gctcccgagc gggacttgtg aggcgtggcc gggtggagga
      301 ggcgcttgcg ggggcgtggg gctccccggc aggcgggagg cacggagcaa gtcgcactgg
      361 acaatgacct gggcagctcg gcgctgcgga cacttttagc tgagggcgcg ggcgggtcgg
      421 ctcctccgcg gctcctcggc cccacctgcg cggagagggc gggatgccag agccaggtgt
      481 cccggcgcgt taagggccct cgcagtcaga cgtccctgca ccggcgctcg cacccttagt
      541 cggcccggaa cgtctttttg cggacgccct cggagcagcc gcgatggcca gcaccaggag
      601 tatcgagctg gagcactttg aggaacggga caaaaggccg cggccggggt cgcggagagg
      661 ggcccccagc tcctccgggg gcagcagcag ctcgggcccc aaggggaacg ggctcatccc
      721 cagtccggcg cacagtgccc actgcagctt ctaccgcacg cggaccctgc aggccctcag
      781 ctcggagaag aaggccaaga aggcgcgctt ctaccggaac ggggaccgct acttcaaggg
      841 cctggtgttt gccatctcca gcgaccgctt ccggtccttc gatgcgctcc tcatagagct
      901 cacccgctcc ctgtcggaca acgtgaacct gccccagggt gtccgcacta tctacaccat
      961 cgacggcagc cggaaggtca ccagcctgga cgagctgctg gaaggtgaga gttacgtgtg
     1021 tgcatccaat gaaccatttc gtaaagtcga ttacaccaaa aatattaatc caaactggtc
     1081 tgtgaacatc aagggtggga catcccgagc gctggctgct gcctcctctg tgaaaagtga
     1141 agtaaaagaa agtaaagatt tcatcaaacc caagttagtg actgtgattc gaagtggagt
     1201 gaagcctaga aaagccgtgc ggatccttct gaataaaaag actgctcatt cctttgaaca
     1261 agtcttaaca gatatcaccg aagccattaa actagactca ggagtcgtca agaggctctg
     1321 caccctggat ggaaagcagg ttacttgtct gcaagacttt tttggtgatg acgatgtttt
     1381 tattgcatgt ggaccagaaa aatttcgtta tgcccaagat gactttgtcc tggatcatag
     1441 tgaatgtcgt gtcctgaagt catcttattc tcgatcctca gctgttaagt attctggatc
     1501 caaaagccct gggccctctc gacgcagcaa atcaccagct tcagttaatg gaactcccag
     1561 cagccaactt tctactccta aatctacgaa atcctccagt tcctctccaa ctagtccagg
     1621 aagtttcaga ggattaaagc agatttctgc tcatggcaga tcttcttcca atgtaaacgg
     1681 tggacctgag cttgaccgtt gcataagtcc tgaaggtgtg aatggaaaca gatgctctga
     1741 atcatcaact cttcttgaga aatacaaaat tggaaaggtc attggtgatg gcaattttgc
     1801 agtagtcaaa gagtgtatag acaggtccac tggaaaggag tttgccctaa agattataga
     1861 caaagccaaa tgttgtggaa aggaacacct gattgagaat gaagtgtcaa tactgcgccg
     1921 agtgaaacat cccaatatca ttatgctggt cgaggagatg gaaacagcaa ctgagctctt
     1981 tctggtgatg gaattggtca aaggtggaga tctctttgat gcaattactt cgtcgaccaa
     2041 gtacactgag agagatggca gtgccatggt gtacaactta gccaatgccc tcaggtatct
     2101 ccatggcctc agcatcgtgc acagagacat caaaccagag aatctcttgg tgtgtgaata
     2161 tcctgatgga accaagtctt tgaaactggg agactttggg cttgcgactg tggtagaagg
     2221 ccctttatac acagtctgtg gcacacccac ttatgtggct ccagaaatca ttgctgaaac
     2281 tggctatggc ctgaaggtgg acatttgggc agctggtgtg atcacataca tacttctctg
     2341 tggattccca ccattccgaa gtgagaacaa tctccaggaa gatctcttcg accagatctt
     2401 ggctgggaag ctggagtttc cggcccccta ctgggataac atcacggact ctgccaagga
     2461 attaatcagt caaatgcttc aggtaaatgt tgaagctcgg tgtaccgcgg gacaaatcct
     2521 gagtcacccc tgggtgtcag atgatgcctc ccaggagaat aacatgcaag ctgaggtgac
     2581 aggtaaacta aaacagcact ttaataatgc gctccccaaa cagaacagca ctaccaccgg
     2641 ggtctccgtc atcatgaaca cggctctaga taaggagggg cagattttct gcagcaagca
     2701 ctgtcaagac agcggcaggc ctgggatgga gcccatctct ccagttcctc cctcagtgga
     2761 ggagatccct gtgcctgggg aagcagtccc ggcccccacc cctccggaat ctcccacccc
     2821 ccaccctcct cccgctgccc cgggtggtga gcgggcagga acctggcgcc gccaccgaga
     2881 ctgagcctcc tgcagacggg cgaagccgcc tgctgcagcc caggaagcca gccctctgct
     2941 cggcctcgcc ggcctccctg ctgcaggcct ccctctcttc accgcctgcg cctgagttcg
     3001 cgggtcctcc gcaggccgcc tgggaaccgg agcctggcgt gccggagcct ggcctggtgc
     3061 tctgggctct gccttctggt tcctggaggc atcaaaggct gcatccgttc tgccaacagc
     3121 tgttcggaga gactcgttcc agatcatccc gtcattttca gtttgttgga cattttacag
     3181 cttcaccagg agaatgtgca actttattcc agcattcgat gcatttttat agaaacactt
     3241 tggaaacact ttggatgaac caaggccttt tccttattta agtagactca gaacactccc
     3301 tttcttttct tttctctctc tctctctctt ttttttttac gaaagactta gaattgcatt
     3361 tgtccttttg tgggtgtcct gtgagaggtg atatgggggc taagaggact ggctttctaa
     3421 tagaagaagt gagcgcctga gaggacaatt tggtcattgg acacggattg caggctttga
     3481 gaagcgctca gaggcccagg gcggcgggct cagccattcg gcttggggca ccaggctccc
     3541 cagagacaat gctcagtatt cattcataca cagacgatgg aagaagccac ttcttccctg
     3601 ggcggtgtgg gtttccccca gctcttccca cacgtgtgtt aggaaatgcc cgtgaacttg
     3661 ccctctgggc tttttaatga gaggcttggc gcatgcggca cccagcggct gcttccctgc
     3721 aagccagcga cttgccgagc agaatgagct ctgctcctga gccccggtag ctgcttcctc
     3781 atctgcattt catctggagc agggcaggta accacaggag gaggcatgcc cgaggcagcc
     3841 aggactgggc gggaaggtgc tccctggata tactctgtga accttctgga aggctgctgg
     3901 cagtttttcc tttttgtcca ccaccctgct ctttttaata attgtacata atccgtgtat
     3961 ttgttttacc tgctcatctt ctaaactggc gagccctata gttcgttctc attgttagat
     4021 tttgcctttt acaagtgtcc ccaacctgca ataaactttt ccctcttgaa aaaaa
//
LOCUS       NM_001040272            7771 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens ADAMTS like 1 (ADAMTSL1), transcript variant 4, mRNA.
ACCESSION   NM_001040272
VERSION     NM_001040272.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7771)
  AUTHORS   Kantaputra PN, Pruksametanan A, Phondee N, Hutsadaloi A, Intachai W,
            Kawasaki K, Ohazama A, Ngamphiw C, Tongsima S, Ketudat Cairns JR and
            Tripuwabhrut P.
  TITLE     ADAMTSL1 and mandibular prognathism
  JOURNAL   Clin Genet 95 (4), 507-515 (2019)
   PUBMED   30714143
  REMARK    GeneRIF: This explains why the patients with ADAMTSL1 mutations had
            abnormal mandibles but normal long bones. This is the first report
            that mutations in ADAMTSL1 are responsible for the pathogenesis of
            mandibular prognathism.
REFERENCE   2  (bases 1 to 7771)
  AUTHORS   Kadalayil L, Khan S, Nevanlinna H, Fasching PA, Couch FJ, Hopper JL,
            Liu J, Maishman T, Durcan L, Gerty S, Blomqvist C, Rack B, Janni W,
            Collins A, Eccles D and Tapper W.
  TITLE     Germline variation in ADAMTSL1 is associated with prognosis
            following breast cancer treatment in young women
  JOURNAL   Nat Commun 8 (1), 1632 (2017)
   PUBMED   29158497
  REMARK    GeneRIF: ADAMTSL1 are associated with breast cancer prognosis and
            may involve an interaction with AREG expression. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 7771)
  AUTHORS   Hendee K, Wang LW, Reis LM, Rice GM, Apte SS and Semina EV.
  TITLE     Identification and functional analysis of an ADAMTSL1 variant
            associated with a complex phenotype including congenital glaucoma,
            craniofacial, and other systemic features in a three-generation
            human pedigree
  JOURNAL   Hum Mutat 38 (11), 1485-1490 (2017)
   PUBMED   28722276
  REMARK    GeneRIF: These data imply a multisystem role for ADAMTSL1 and
            present the first disease-associated variant affecting a
            C-mannosylation motif.
REFERENCE   4  (bases 1 to 7771)
  AUTHORS   Singh A, Babyak MA, Nolan DK, Brummett BH, Jiang R, Siegler IC,
            Kraus WE, Shah SH, Williams RB and Hauser ER.
  TITLE     Gene by stress genome-wide interaction analysis and path analysis
            identify EBF1 as a cardiovascular and metabolic risk gene
  JOURNAL   Eur J Hum Genet 23 (6), 854-862 (2015)
   PUBMED   25271088
REFERENCE   5  (bases 1 to 7771)
  AUTHORS   Xie T, Deng L, Mei P, Zhou Y, Wang B, Zhang J, Lin J, Wei Y, Zhang X
            and Xu R.
  TITLE     Genome-wide association study combining pathway analysis for typical
            sporadic amyotrophic lateral sclerosis in Chinese Han populations
  JOURNAL   Neurobiol Aging 35 (7), 1778 (2014)
   PUBMED   24529757
REFERENCE   6  (bases 1 to 7771)
  AUTHORS   Wang LW, Leonhard-Melief C, Haltiwanger RS and Apte SS.
  TITLE     Post-translational modification of thrombospondin type-1 repeats in
            ADAMTS-like 1/punctin-1 by C-mannosylation of tryptophan
  JOURNAL   J Biol Chem 284 (44), 30004-30015 (2009)
   PUBMED   19671700
  REMARK    GeneRIF: thrombospondin type-1 repeats from punctin-1 carries
            C-mannosylation in close proximity to O-linked fucose
REFERENCE   7  (bases 1 to 7771)
  AUTHORS   Wang LW, Dlugosz M, Somerville RP, Raed M, Haltiwanger RS and Apte
            SS.
  TITLE     O-fucosylation of thrombospondin type 1 repeats in
            ADAMTS-like-1/punctin-1 regulates secretion: implications for the
            ADAMTS superfamily
  JOURNAL   J Biol Chem 282 (23), 17024-17031 (2007)
   PUBMED   17395588
  REMARK    GeneRIF: data define a critical role for N-glycosylation and
            O-fucosylation in the biosynthesis of punctin-1
REFERENCE   8  (bases 1 to 7771)
  AUTHORS   Fu GK, Wang JT, Yang J, Au-Young J and Stuve LL.
  TITLE     Circular rapid amplification of cDNA ends for high-throughput
            extension cloning of partial genes
  JOURNAL   Genomics 84 (1), 205-210 (2004)
   PUBMED   15203218
REFERENCE   9  (bases 1 to 7771)
  AUTHORS   Hall NG, Klenotic P, Anand-Apte B and Apte SS.
  TITLE     ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix
            related to the ADAMTS family of metalloproteases
  JOURNAL   Matrix Biol 22 (6), 501-510 (2003)
   PUBMED   14667842
REFERENCE   10  (bases 1 to 7771)
  AUTHORS   Hirohata S, Wang LW, Miyagi M, Yan L, Seldin MF, Keene DR, Crabb JW
            and Apte SS.
  TITLE     Punctin, a novel ADAMTS-like molecule, ADAMTSL-1, in extracellular
            matrix
  JOURNAL   J Biol Chem 277 (14), 12182-12189 (2002)
   PUBMED   11805097
  REMARK    GeneRIF: Punctin, a novel ADAMTS-like molecule, ADAMTSL-1, in
            extracellular matrix
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380548.9/ ENSP00000369921.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA598045.1, CX758410.1, AF251058.1, DA549329.1, AL591423.7,
            AI750970.1, BX640951.1, BC100790.2, AL158150.14 and BU626040.1.
            On Nov 22, 2018 this sequence version replaced NM_001040272.5.
            Summary: This gene encodes a secreted protein and member of the
            ADAMTS (a disintegrin and metalloproteinase with thrombospondin
            motif) family. This protein lacks the metalloproteinase and
            disintegrin-like domains, which are typical of the ADAMTS family,
            but contains other ADAMTS domains, including the thrombospondin
            type 1 motif. This protein may have important functions in the
            extracellular matrix. Alternative splicing results in multiple
            transcript variants encoding distinct proteins. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (4) encodes the longer isoform
            (4).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7771
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p22.2-p22.1"
     gene            1..7771
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /note="ADAMTS like 1"
                     /db_xref="GeneID:92949"
                     /db_xref="HGNC:HGNC:14632"
                     /db_xref="MIM:609198"
     misc_feature    12..14
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /note="upstream in-frame stop codon"
     CDS             81..5369
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /note="isoform 4 precursor is encoded by transcript variant
                     4; ADAM-TS related protein 1; ADAMTS-like protein 1;
                     punctin-1"
                     /codon_start=1
                     /product="ADAMTS-like protein 1 isoform 4 precursor"
                     /protein_id="NP_001035362.3"
                     /db_xref="CCDS:CCDS47954.1"
                     /db_xref="GeneID:92949"
                     /db_xref="HGNC:HGNC:14632"
                     /db_xref="MIM:609198"
                     /translation="MECCRRATPGTLLLFLAFLLLSSRTARSEEDRDGLWDAWGPWSEC
                     SRTCGGGASYSLRRCLSSKSCEGRNIRYRTCSNVDCPPEAGDFRAQQCSAHNDVKHHGQ
                     FYEWLPVSNDPDNPCSLKCQAKGTTLVVELAPKVLDGTRCYTESLDMCISGLCQIVGCD
                     HQLGSTVKEDNCGVCNGDGSTCRLVRGQYKSQLSATKSDDTVVAIPYGSRHIRLVLKGP
                     DHLYLETKTLQGTKGENSLSSTGTFLVDNSSVDFQKFPDKEILRMAGPLTADFIVKIRN
                     SGSADSTVQFIFYQPIIHRWRETDFFPCSATCGGGYQLTSAECYDLRSNRVVADQYCHY
                     YPENIKPKPKLQECNLDPCPASDGYKQIMPYDLYHPLPRWEATPWTACSSSCGGGIQSR
                     AVSCVEEDIQGHVTSVEEWKCMYTPKMPIAQPCNIFDCPKWLAQEWSPCTVTCGQGLRY
                     RVVLCIDHRGMHTGGCSPKTKPHIKEECIVPTPCYKPKEKLPVEAKLPWFKQAQELEEG
                     AAVSEEPSFIPEAWSACTVTCGVGTQVRIVRCQVLLSFSQSVADLPIDECEGPKPASQR
                     ACYAGPCSGEIPEFNPDETDGLFGGLQDFDELYDWEYEGFTKCSESCGGGVQEAVVSCL
                     NKQTREPAEENLCVTSRRPPQLLKSCNLDPCPARWEIGKWSPCSLTCGVGLQTRDVFCS
                     HLLSREMNETVILADELCRQPKPSTVQACNRFNCPPAWYPAQWQPCSRTCGGGVQKREV
                     LCKQRMADGSFLELPETFCSASKPACQQACKKDDCPSEWLLSDWTECSTSCGEGTQTRS
                     AICRKMLKTGLSTVVNSTLCPPLPFSSSIRPCMLATCARPGRPSTKHSPHIAAARKVYI
                     QTRRQRKLHFVVGGFAYLLPKTAVVLRCPARRVRKPLITWEKDGQHLISSTHVTVAPFG
                     YLKIHRLKPSDAGVYTCSAGPAREHFVIKLIGGNRKLVARPLSPRSEEEVLAGRKGGPK
                     EALQTHKHQNGIFSNGSKAEKRGLAANPGSRYDDLVSRLLEQGGWPGELLASWEAQDSA
                     ERNTTSEEDPGAEQVLLHLPFTMVTEQRRLDDILGNLSQQPEELRDLYSKHLVAQLAQE
                     IFRSHLEHQDTLLKPSERRTSPVTLSPHKHVSGFSSSLRTSSTGDAGGGSRRPHRKPTI
                     LRKISAAQQLSASEVVTHLGQTVALASGTLSVLLHCEAIGHPRPTISWARNGEEVQFSD
                     RILLQPDDSLQILAPVEADVGFYTCNATNALGYDSVSIAVTLAGKPLVKTSRMTVINTE
                     KPAVTVDIGSTIKTVQGVNVTINCQVAGVPEAEVTWFRNKSKLGSPHHLHEGSLLLTNV
                     SSSDQGLYSCRAANLHGELTESTQLLILDPPQVPTQLEDIRALLAATGPNLPSVLTSPL
                     GTQLVLDPGNSALLGCPIKGHPVPNITWFHGGQPIVTATGLTHHILAAGQILQVANLSG
                     GSQGEFSCLAQNEAGVLMQKASLVIQDYWWSVDRLATCSASCGNRGVQQPRLRCLLNST
                     EVNPAHCAGKVRPAVQPIACNRRDCPSRWMVTSWSACTRSCGGGVQTRRVTCQKLKASG
                     ISTPVSNDMCTQVAKRPVDTQACNQQLCVEWAFSSWGQCNGPCIGPHLAVQHRQVFCQT
                     RDGITLPSEQCSALPRPVSTQNCWSEACSVHWRVSLWTLCTATCGNYGFQSRRVECVHA
                     RTNKAVPEHLCSWGPRPANWQRCNITPCENMECRDTTRYCEKVKQLKLCQLSQFKSRCC
                     GTCGKA"
     sig_peptide     81..164
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    186..188
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /note="Not glycosylated.
                     /evidence=ECO:0000269|PubMed:19671700; propagated from
                     UniProtKB/Swiss-Prot (Q8N6G6.4); other site"
     misc_feature    195..197
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /note="C-linked (Man) tryptophan.
                     /evidence=ECO:0000269|PubMed:19671700; propagated from
                     UniProtKB/Swiss-Prot (Q8N6G6.4); glycosylation site"
     misc_feature    204..206
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /note="C-linked (Man) tryptophan.
                     /evidence=ECO:0000269|PubMed:19671700; propagated from
                     UniProtKB/Swiss-Prot (Q8N6G6.4); glycosylation site"
     misc_feature    222..224
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /note="O-linked (Fuc...) threonine.
                     /evidence=ECO:0000269|PubMed:19671700; propagated from
                     UniProtKB/Swiss-Prot (Q8N6G6.4); glycosylation site"
     misc_feature    831..833
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17395588; propagated from
                     UniProtKB/Swiss-Prot (Q8N6G6.4); glycosylation site"
     misc_feature    1014..1016
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /note="O-linked (Fuc...) threonine.
                     /evidence=ECO:0000269|PubMed:17395588; propagated from
                     UniProtKB/Swiss-Prot (Q8N6G6.4); glycosylation site"
     misc_feature    1251..1253
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /note="O-linked (Fuc...) serine.
                     /evidence=ECO:0000269|PubMed:17395588; propagated from
                     UniProtKB/Swiss-Prot (Q8N6G6.4); glycosylation site"
     misc_feature    1431..1433
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /note="O-linked (Fuc...) threonine.
                     /evidence=ECO:0000269|PubMed:17395588; propagated from
                     UniProtKB/Swiss-Prot (Q8N6G6.4); glycosylation site"
     misc_feature    3438..3572
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N6G6.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      7751..7756
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /note="hexamer: AATACA"
     polyA_site      7771
                     /gene="ADAMTSL1"
                     /gene_synonym="ADAMTSL-1; ADAMTSR1; C9orf94; PUNCTIN"
                     /note="major polyA site"
ORIGIN
        1 agtactggat gtgacagcag gcagaggagc acttagcagc ttattcagtg tccgattctg
       61 attccggcaa ggatccaagc atggaatgct gccgtcgggc aactcctggc acactgctcc
      121 tctttctggc tttcctgctc ctgagttcca ggaccgcacg ctccgaggag gaccgggacg
      181 gcctatggga tgcctggggc ccatggagtg aatgctcacg cacctgcggg ggtggggcct
      241 cctactctct gaggcgctgc ctgagcagca agagctgtga aggaagaaat atccgataca
      301 gaacatgcag taatgtggac tgcccaccag aagcaggtga tttccgagct cagcaatgct
      361 cagctcataa tgatgtcaag caccatggcc agttttatga atggcttcct gtgtctaatg
      421 accctgacaa cccatgttca ctcaagtgcc aagccaaagg aacaaccctg gttgttgaac
      481 tagcacctaa ggtcttagat ggtacgcgtt gctatacaga atctttggat atgtgcatca
      541 gtggtttatg ccaaattgtt ggctgcgatc accagctggg aagcaccgtc aaggaagata
      601 actgtggggt ctgcaacgga gatgggtcca cctgccggct ggtccgaggg cagtataaat
      661 cccagctctc cgcaaccaaa tcggatgata ctgtggttgc aattccctat ggaagtagac
      721 atattcgcct tgtcttaaaa ggtcctgatc acttatatct ggaaaccaaa accctccagg
      781 ggactaaagg tgaaaacagt ctcagctcca caggaacttt ccttgtggac aattctagtg
      841 tggacttcca gaaatttcca gacaaagaga tactgagaat ggctggacca ctcacagcag
      901 atttcattgt caagattcgt aactcgggct ccgctgacag tacagtccag ttcatcttct
      961 atcaacccat catccaccga tggagggaga cggatttctt tccttgctca gcaacctgtg
     1021 gaggaggtta tcagctgaca tcggctgagt gctacgatct gaggagcaac cgtgtggttg
     1081 ctgaccaata ctgtcactat tacccagaga acatcaaacc caaacccaag cttcaggagt
     1141 gcaacttgga tccttgtcca gccagtgacg gatacaagca gatcatgcct tatgacctct
     1201 accatcccct tcctcggtgg gaggccaccc catggaccgc gtgctcctcc tcgtgtgggg
     1261 ggggcatcca gagccgggca gtttcctgtg tggaggagga catccagggg catgtcactt
     1321 cagtggaaga gtggaaatgc atgtacaccc ctaagatgcc catcgcgcag ccctgcaaca
     1381 tttttgactg ccctaaatgg ctggcacagg agtggtctcc gtgcacagtg acatgtggcc
     1441 agggcctcag ataccgtgtg gtcctctgca tcgaccatcg aggaatgcac acaggaggct
     1501 gtagcccaaa aacaaagccc cacataaaag aggaatgcat cgtacccact ccctgctata
     1561 aacccaaaga gaaacttcca gtcgaggcca agttgccatg gttcaaacaa gctcaagagc
     1621 tagaagaagg agctgctgtg tcagaggagc cctcgttcat cccagaggcc tggtcggcct
     1681 gcacagtcac ctgtggtgtg gggacccagg tgcgaatagt caggtgccag gtgctcctgt
     1741 ctttctctca gtccgtggct gacctgccta ttgacgagtg tgaagggccc aagccagcat
     1801 cccagcgtgc ctgttatgca ggcccatgca gcggggaaat tcctgagttc aacccagacg
     1861 agacagatgg gctctttggt ggcctgcagg atttcgacga gctgtatgac tgggagtatg
     1921 aggggttcac caagtgctcc gagtcctgtg gaggaggtgt ccaggaggct gtggtgagct
     1981 gcttgaacaa acagactcgg gagcctgctg aggagaacct gtgcgtgacc agccgccggc
     2041 ccccacagct cctgaagtcc tgcaatttgg atccctgccc agcaaggtgg gaaattggca
     2101 agtggagtcc atgtagtctc acatgtgggg tcggcctaca gaccagagac gtcttctgca
     2161 gccacctgct ttccagagag atgaatgaaa cagtcatcct ggctgatgag ctgtgtcgcc
     2221 agcccaagcc cagcacggtg caagcttgta accgctttaa ttgcccccca gcctggtacc
     2281 ctgcacagtg gcagccgtgt tccagaacgt gtggcggggg tgttcagaaa cgtgaggttc
     2341 tttgcaagca gcgcatggct gatggcagct tcctggagct tcctgagacc ttctgttcag
     2401 cttcaaaacc tgcctgccag caagcatgca agaaagatga ctgtcccagc gagtggcttc
     2461 tctcagactg gacagagtgt tccacaagct gcggggaagg cacccagact cgaagcgcca
     2521 tttgccgaaa gatgctgaaa accggcctct caacggttgt caattccacc ctgtgcccgc
     2581 ccctgccttt ctcttcctcc atcaggccct gtatgctggc aacctgtgca aggcccgggc
     2641 ggccatccac gaagcacagc ccgcacatcg cggccgccag gaaggtctac atacagactc
     2701 gcaggcagag gaagctgcac ttcgtggtgg ggggcttcgc ctacctgctc cccaagacgg
     2761 cggtggtgct gcgctgcccg gcgcgcaggg tccgcaagcc cctcatcacc tgggagaagg
     2821 acggccagca cctcatcagc tcgacgcacg tcacggtggc ccccttcggc tatctcaaga
     2881 tccaccgcct caagccctcg gatgcaggcg tctacacctg ctcagcgggc ccggcccggg
     2941 agcactttgt gattaagctc atcggaggca accgcaagct cgtggcccgg cccttgagcc
     3001 cgagaagtga ggaagaggtg cttgcgggga ggaagggcgg cccgaaggag gccctgcaga
     3061 cccacaaaca ccagaacggg atcttctcca acggcagcaa ggcggagaag cggggcctgg
     3121 ccgccaaccc ggggagccgc tacgacgacc tcgtctcccg gctgctggag cagggcggct
     3181 ggcccggaga gctgctggcc tcgtgggagg cgcaggactc tgcggaaagg aacacgacct
     3241 cggaggagga cccgggtgca gagcaagtgc tcctgcacct gcccttcacc atggtgaccg
     3301 agcagcggcg cctggacgac atcctgggga acctctccca gcagcccgag gagctgcgcg
     3361 acctctacag caagcacctg gtggcccagc tggcccagga gatcttccgc agccacctgg
     3421 agcaccagga cacgctcctg aagccctcgg agcgcaggac ttccccagtg actctctcgc
     3481 ctcataaaca cgtgtctggc ttcagcagct ccctgcggac ctcctccacc ggggacgccg
     3541 ggggaggctc tcgaaggcca caccgcaagc ccaccatcct gcgcaagatc tcagcggccc
     3601 agcagctctc agcctcggag gtggtcaccc acctggggca gacggtggcc ctggccagcg
     3661 ggacactgag tgttcttctg cactgtgagg ccatcggcca cccaaggcct accatcagct
     3721 gggccaggaa tggagaagaa gttcagttca gtgacaggat tcttctacag ccagatgatt
     3781 ccttacagat cttggcacca gtggaagcag atgtgggttt ctacacttgc aatgccacca
     3841 atgccttggg atacgactct gtctccattg ccgtcacatt agcaggaaag ccactagtga
     3901 aaacgtcacg aatgacagtg atcaacacgg agaagcctgc agtcacagtc gatataggaa
     3961 gcaccatcaa aacagtgcag ggagtgaatg tgacaatcaa ctgccaggtt gcaggagtgc
     4021 ctgaagctga agtcacttgg ttcaggaata aaagcaaact gggctccccg caccatctgc
     4081 acgaaggctc cttgctgctc acaaacgtgt cctcctcgga tcagggcctg tactcctgca
     4141 gggcggccaa tcttcatgga gagctgactg agagcaccca gctgctgatc ctagatcccc
     4201 cccaagtccc cacacagttg gaagacatca gggccttgct cgctgccact ggaccgaacc
     4261 ttccttcagt gctgacgtct cctctgggaa cacagctggt cctggatcct gggaattctg
     4321 ctctccttgg ctgccccatc aaaggtcacc ctgtccctaa tatcacctgg tttcatggtg
     4381 gtcagccaat tgtcactgcc acaggactga cgcatcacat cttggcagct ggacagatcc
     4441 ttcaagttgc aaaccttagc ggtgggtctc aaggggaatt cagctgcctt gctcagaatg
     4501 aggcaggggt gctcatgcag aaggcatctt tagtgatcca agattactgg tggtctgtgg
     4561 acagactggc aacctgctca gcctcctgtg gtaaccgggg ggttcagcag ccccgcttga
     4621 ggtgcctgct gaacagcacg gaggtcaacc ctgcccactg cgcagggaag gttcgccctg
     4681 cggtgcagcc catcgcgtgc aaccggagag actgcccttc tcggtggatg gtgacctcct
     4741 ggtctgcctg tacccggagc tgtgggggag gtgtccagac ccgcagggtg acctgtcaaa
     4801 agctgaaagc ctctgggatc tccacccctg tgtccaatga catgtgcacc caggtcgcca
     4861 agcggcctgt ggacacccag gcctgtaacc agcagctgtg tgtggagtgg gccttctcca
     4921 gctggggcca gtgcaatggg ccttgcatcg ggcctcacct agctgtgcaa cacagacaag
     4981 tcttctgcca gacacgggat ggcatcacct taccatcaga gcagtgcagt gctcttccga
     5041 ggcctgtgag cacccagaac tgctggtcag aggcctgcag tgtacactgg agagtcagcc
     5101 tgtggaccct gtgcacagct acctgtggca actacggctt ccagtcccgg cgtgtggagt
     5161 gtgtgcatgc ccgcaccaac aaggcagtgc ctgagcacct gtgctcctgg gggccccggc
     5221 ctgccaactg gcagcgctgc aacatcaccc catgtgaaaa catggagtgc agagacacca
     5281 ccaggtactg cgagaaggtg aaacagctga aactctgcca actcagccag tttaaatctc
     5341 gctgctgtgg aacttgtggc aaagcgtgaa gatagggtgt ggggaaaaac tctaccctgg
     5401 ccacacgaag gactcacgca accacctcgg acagaaccta agctttcttc attttattta
     5461 tttatttccc cctccccact ccacacacac ccttccaacc tcctccacct ccaccttcaa
     5521 gcataaggac gtccgcgtgt tttctctttc agttagctgg aggacaggat gttgggaaag
     5581 gaaaggacag atgtctaaag gaggttgcag agcaggccag gcagacagtg ggggctccct
     5641 tgaagagctt cctccctccc aaacctgggt ctcaaagacc tagaaagagg caggcacagc
     5701 ccctgcggac agcagggagc cagaaggttt gtagcctatt ggtgcaaaca ttggacaaat
     5761 tcctgtgtct ttcctagaag cgcactatca caaacacagg agtgttttgc tcctttgtct
     5821 cctcttcccc atctatgtcc ctttagtcac agttaggaca aatggggagg ggacaccatg
     5881 ctgaggcaga aactagccca gaactcactc agttcttcta gtgggtgagt gcagagagag
     5941 aagaactcag atcaccagta gggagaggta aaaaagcaaa caaagcaggc tctaaggcac
     6001 acaacattgc agaaaatgag gaagggaggg gagggaaggg acagaagcaa aaaggagcct
     6061 gtggtgttcc ccagtggggc agggtgagca ggggcttcca ggctgcatga ggctcatgga
     6121 ccagctctga tcccatgcat gtgcgcatgc tcagagccct gctgcccaca acagagcact
     6181 gcgctgcgtg ggagtcccca cttcccaagc tatcagagtc aacgtcctgc ctgtgcagct
     6241 gcagcaaagc cagtgagagg tgggtctcgc catgcagtaa ggccaccctg gcacctcttt
     6301 atctaaatcc gaagtcccct agccccgcac taactaactg ctgctgtggg ccagggccat
     6361 tttgagcatg aatggcccag gttttttgcc ttctaggacc tttgctgctc caccgaaggg
     6421 ccagggacta tggttaactt atcaacatca acccattaac tagtcactgt gccagagagt
     6481 atctgtcagg ctgtcaggtt gtagcaacct cttcattcca gagctggccc agggaccggg
     6541 gtgggacaat gggtttatgc gtgtccacag tacaccctcc ctctcccagc ctccacccca
     6601 gggtctgcag gtcctccggc atgtagtatt tatctagcaa ggcggggtgg tggaggcagc
     6661 accctggcaa agcagctcac acactgcagc cacactcatc agctgtggtg aggcggctgg
     6721 agcaaagtca aagtcatgca gcaaaatgaa aactctggga ctcttcggca aaatcctcat
     6781 taagccgagc agctttggcc aagtaatttt tgcctccttc cctcgcgtgg cctgagttta
     6841 ggagcaaggg tggccagagt cccttaccca cagataagcc tcccctcatg aaatgccact
     6901 caccccgggc taccattgac atcagggctg catttccagc cagcctggaa gtaaaatttg
     6961 agaggaagac aatattaatc tgtgtcccca cctagtgagc tgtggacagg tttaagttgg
     7021 gtctccttct tcttcaccac aaaaacaggc tctaagaaat catgttacta aaaaatcagt
     7081 gtaaagtctg tttaaaataa aaaagaatgt tttctatgtc tgtatatctt ttgtgaatat
     7141 ttattaggat ttcttattaa aaaagtgcaa tattaataat tgtacattgt catccagaaa
     7201 caaaactatt ggggggactt tattaactaa cttcctgcag ttgtgttcct gtaaactcag
     7261 tagtgattat tatatttttc ctatttttaa tagaacctgg tgtttaactc tggatccatt
     7321 cactgtacag gatgtgttgt aaaaactaac atgggatgct gaggcagtaa gagggaattc
     7381 atttgtggca taatagttat gcatggaatg ataaagacag acaaattcca tactactact
     7441 aatgtggtta attatttcta gttcgatagt gattgaaaat cagtggtcac tatttacatt
     7501 tcctaaagag caagcatcct ccagctccat gttgggttgg agcagttggc agtgggtctc
     7561 agtgagctgg cagaacctag gtttgggtgg gaagcagaat gctcgttgca tgaaatgaat
     7621 gtacatttaa tgtttgttct gtgaattgca actcagcagc accacaagac aatgaaggct
     7681 gctggctaat gtggaaggag gcactttctc ctctaaaaca caaaactgta tttgtatttt
     7741 ttgtacagat aatacagctt atttatttaa a
//
LOCUS       NM_001040274            2909 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens synaptonemal complex protein 2 like (SYCP2L), mRNA.
ACCESSION   NM_001040274
VERSION     NM_001040274.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2909)
  AUTHORS   Rosa IR, Barbosa CP, Ferrandez CA, Sonoda BDB, Christofolini DM,
            Trevisan CM, Lagana AS, Peluso C and Bianco B.
  TITLE     Involvement of SYCP2L and TDRD3 gene variants on ovarian reserve and
            reproductive outcomes: a cross-sectional study
  JOURNAL   JBRA Assist Reprod 27 (3), 428-435 (2023)
   PUBMED   37417852
  REMARK    GeneRIF: Involvement of SYCP2L and TDRD3 gene variants on ovarian
            reserve and reproductive outcomes: a cross-sectional study.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2909)
  AUTHORS   He WB, Tan C, Zhang YX, Meng LL, Gong F, Lu GX, Lin G, Du J and Tan
            YQ.
  TITLE     Homozygous variants in SYCP2L cause premature ovarian insufficiency
  JOURNAL   J Med Genet 58 (3), 168-172 (2021)
   PUBMED   32303603
  REMARK    GeneRIF: Homozygous variants in SYCP2L cause premature ovarian
            insufficiency.
REFERENCE   3  (bases 1 to 2909)
  AUTHORS   Zhou J, Stein P, Leu NA, Chmatal L, Xue J, Ma J, Huang X, Lampson
            MA, Schultz RM and Wang PJ.
  TITLE     Accelerated reproductive aging in females lacking a novel centromere
            protein SYCP2L
  JOURNAL   Hum Mol Genet 24 (22), 6505-6514 (2015)
   PUBMED   26362258
  REMARK    GeneRIF: We find that a human SYCP2L intronic single nucleotide
            polymorphism (SNP) rs2153157, which is associated with ANM, changes
            the splicing efficiency of U12-type minor introns
REFERENCE   4  (bases 1 to 2909)
  AUTHORS   Bunyavanich,S., Schadt,E.E., Himes,B.E., Lasky-Su,J., Qiu,W.,
            Lazarus,R., Ziniti,J.P., Cohain,A., Linderman,M., Torgerson,D.G.,
            Eng,C.S., Pino-Yanes,M., Padhukasahasram,B., Yang,J.J.,
            Mathias,R.A., Beaty,T.H., Li,X., Graves,P., Romieu,I., Navarro
            Bdel,R., Salam,M.T., Vora,H., Nicolae,D.L., Ober,C., Martinez,F.D.,
            Bleecker,E.R., Meyers,D.A., Gauderman,W.J., Gilliland,F.,
            Burchard,E.G., Barnes,K.C., Williams,L.K., London,S.J., Zhang,B.,
            Raby,B.A. and Weiss,S.T.
  TITLE     Integrated genome-wide association, coexpression network, and
            expression single nucleotide polymorphism analysis identifies novel
            pathway in allergic rhinitis
  JOURNAL   BMC Med Genomics 7, 48 (2014)
   PUBMED   25085501
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2909)
  AUTHORS   Seppala I, Kleber ME, Lyytikainen LP, Hernesniemi JA, Makela KM,
            Oksala N, Laaksonen R, Pilz S, Tomaschitz A, Silbernagel G, Boehm
            BO, Grammer TB, Koskinen T, Juonala M, Hutri-Kahonen N, Alfthan G,
            Viikari JS, Kahonen M, Raitakari OT, Marz W, Meinitzer A and
            Lehtimaki T.
  CONSRTM   AtheroRemo Consortium
  TITLE     Genome-wide association study on dimethylarginines reveals novel
            AGXT2 variants associated with heart rate variability but not with
            overall mortality
  JOURNAL   Eur Heart J 35 (8), 524-531 (2014)
   PUBMED   24159190
REFERENCE   6  (bases 1 to 2909)
  AUTHORS   Stolk L, Perry JR, Chasman DI, He C, Mangino M, Sulem P, Barbalic M,
            Broer L, Byrne EM, Ernst F, Esko T, Franceschini N, Gudbjartsson DF,
            Hottenga JJ, Kraft P, McArdle PF, Porcu E, Shin SY, Smith AV, van
            Wingerden S, Zhai G, Zhuang WV, Albrecht E, Alizadeh BZ, Aspelund T,
            Bandinelli S, Lauc LB, Beckmann JS, Boban M, Boerwinkle E, Broekmans
            FJ, Burri A, Campbell H, Chanock SJ, Chen C, Cornelis MC, Corre T,
            Coviello AD, d'Adamo P, Davies G, de Faire U, de Geus EJ, Deary IJ,
            Dedoussis GV, Deloukas P, Ebrahim S, Eiriksdottir G, Emilsson V,
            Eriksson JG, Fauser BC, Ferreli L, Ferrucci L, Fischer K, Folsom AR,
            Garcia ME, Gasparini P, Gieger C, Glazer N, Grobbee DE, Hall P,
            Haller T, Hankinson SE, Hass M, Hayward C, Heath AC, Hofman A,
            Ingelsson E, Janssens AC, Johnson AD, Karasik D, Kardia SL, Keyzer
            J, Kiel DP, Kolcic I, Kutalik Z, Lahti J, Lai S, Laisk T, Laven JS,
            Lawlor DA, Liu J, Lopez LM, Louwers YV, Magnusson PK, Marongiu M,
            Martin NG, Klaric IM, Masciullo C, McKnight B, Medland SE, Melzer D,
            Mooser V, Navarro P, Newman AB, Nyholt DR, Onland-Moret NC, Palotie
            A, Pare G, Parker AN, Pedersen NL, Peeters PH, Pistis G, Plump AS,
            Polasek O, Pop VJ, Psaty BM, Raikkonen K, Rehnberg E, Rotter JI,
            Rudan I, Sala C, Salumets A, Scuteri A, Singleton A, Smith JA,
            Snieder H, Soranzo N, Stacey SN, Starr JM, Stathopoulou MG, Stirrups
            K, Stolk RP, Styrkarsdottir U, Sun YV, Tenesa A, Thorand B, Toniolo
            D, Tryggvadottir L, Tsui K, Ulivi S, van Dam RM, van der Schouw YT,
            van Gils CH, van Nierop P, Vink JM, Visscher PM, Voorhuis M, Waeber
            G, Wallaschofski H, Wichmann HE, Widen E, Wijnands-van Gent CJ,
            Willemsen G, Wilson JF, Wolffenbuttel BH, Wright AF,
            Yerges-Armstrong LM, Zemunik T, Zgaga L, Zillikens MC, Zygmunt M,
            Arnold AM, Boomsma DI, Buring JE, Crisponi L, Demerath EW, Gudnason
            V, Harris TB, Hu FB, Hunter DJ, Launer LJ, Metspalu A, Montgomery
            GW, Oostra BA, Ridker PM, Sanna S, Schlessinger D, Spector TD,
            Stefansson K, Streeten EA, Thorsteinsdottir U, Uda M, Uitterlinden
            AG, van Duijn CM, Volzke H, Murray A, Murabito JM, Visser JA and
            Lunetta KL.
  CONSRTM   LifeLines Cohort Study
  TITLE     Meta-analyses identify 13 loci associated with age at menopause and
            highlight DNA repair and immune pathways
  JOURNAL   Nat Genet 44 (3), 260-268 (2012)
   PUBMED   22267201
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2909)
  AUTHORS   Lemaitre RN, Tanaka T, Tang W, Manichaikul A, Foy M, Kabagambe EK,
            Nettleton JA, King IB, Weng LC, Bhattacharya S, Bandinelli S, Bis
            JC, Rich SS, Jacobs DR Jr, Cherubini A, McKnight B, Liang S, Gu X,
            Rice K, Laurie CC, Lumley T, Browning BL, Psaty BM, Chen YD,
            Friedlander Y, Djousse L, Wu JH, Siscovick DS, Uitterlinden AG,
            Arnett DK, Ferrucci L, Fornage M, Tsai MY, Mozaffarian D and Steffen
            LM.
  TITLE     Genetic loci associated with plasma phospholipid n-3 fatty acids: a
            meta-analysis of genome-wide association studies from the CHARGE
            Consortium
  JOURNAL   PLoS Genet 7 (7), e1002193 (2011)
   PUBMED   21829377
REFERENCE   8  (bases 1 to 2909)
  AUTHORS   He C, Kraft P, Chen C, Buring JE, Pare G, Hankinson SE, Chanock SJ,
            Ridker PM, Hunter DJ and Chasman DI.
  TITLE     Genome-wide association studies identify loci associated with age at
            menarche and age at natural menopause
  JOURNAL   Nat Genet 41 (6), 724-728 (2009)
   PUBMED   19448621
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AM293674.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000283141.11/ ENSP00000283141.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB077181.1, AM293674.1, AL357497.17, AK294018.1 and AI027433.1.
            On Nov 22, 2018 this sequence version replaced NM_001040274.2.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2909
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.2"
     gene            1..2909
                     /gene="SYCP2L"
                     /gene_synonym="C6orf177; dJ62D2.1; NO145"
                     /note="synaptonemal complex protein 2 like"
                     /db_xref="GeneID:221711"
                     /db_xref="HGNC:HGNC:21537"
                     /db_xref="MIM:616799"
     CDS             76..2514
                     /gene="SYCP2L"
                     /gene_synonym="C6orf177; dJ62D2.1; NO145"
                     /note="SCP-2-like; 145 kDa nucleolar protein homolog"
                     /codon_start=1
                     /product="synaptonemal complex protein 2-like"
                     /protein_id="NP_001035364.2"
                     /db_xref="CCDS:CCDS43423.1"
                     /db_xref="GeneID:221711"
                     /db_xref="HGNC:HGNC:21537"
                     /db_xref="MIM:616799"
                     /translation="MQAKNKDALQPIKEDRTGKAQDDAFWLQSLITDAFHDKGFQKIKE
                     YFQQKESHFPQKYNRLLLYRLDRSINKELDKNEFQSVSLLLKCIQRFLVDGLKEDEPLL
                     IRQGLIPKLVSWFERTTGILTSEGLASDTSLICVIEDFFDTALIISRSSSEGKIQMLDS
                     FLLSLGFLVTEKTVNHLLQQEGLKTFNCILHAVPREERKKFPLSEGMCHLMKDLARTLL
                     TVGDYDQQVAISEALCRLTIKKSRDELVHKWFDDEVIAEAFKEIKDREFETDSRRFLNH
                     LNNRLGDQRRVYSFPCIAAFADEHEMRKPADEKLEKFWIDFNLGSQSVTFYIDNAENTL
                     WDSVTLPKEAVMNFSITETEKIKIFIIYLKKPMIISYKEVMKIEIHFDLQFNISQVSIQ
                     ALGEDKQMLPDQTKISSELFSKSDKEDRESPSGLERETEQAEESTNMVEFMSAEDDRCL
                     ITLHLNDQSEPPVIGEPASDSHLQPVPPFGVPDFPQQPKSHYRKHLFSESNQDSSTSEL
                     SWTSNQKKKSLKSYSSRKKTRTRSNLRILPVFPPSSGSGHEKDQAKLLSPSEKEIPEQN
                     NTTSPKTSEQKFQDSFAFLTAEDSAQKTELQDPHSLSELSSLKHSEDEEKPKIVNQESL
                     TESTSLKHKLRNLEDKDIPEGSFAKSQQSRLEEEVAPGSPFSITEERELPEGISTSSLE
                     VVPENLNGSAILPTFENFTKKRKRKYELRYRKRPFNSENAKKAPDCLIKLLNQMQLFRL
                     NKLERFQNLVLQELSSLKQDIQALEHLEKEVLEFWGKQSADLQSFCDLQVLRFNSTQTS
                     "
     misc_feature    1318..1410
                     /gene="SYCP2L"
                     /gene_synonym="C6orf177; dJ62D2.1; NO145"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T4T6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1471..2094
                     /gene="SYCP2L"
                     /gene_synonym="C6orf177; dJ62D2.1; NO145"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T4T6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2775..2780
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYCP2L"
                     /gene_synonym="C6orf177; dJ62D2.1; NO145"
                     /note="hexamer: AATAGA"
     polyA_site      2800
                     /gene="SYCP2L"
                     /gene_synonym="C6orf177; dJ62D2.1; NO145"
                     /note="major polyA site"
     regulatory      2831..2836
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYCP2L"
                     /gene_synonym="C6orf177; dJ62D2.1; NO145"
                     /note="hexamer: AGTAAA"
     polyA_site      2856
                     /gene="SYCP2L"
                     /gene_synonym="C6orf177; dJ62D2.1; NO145"
                     /note="major polyA site"
     regulatory      2880..2885
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYCP2L"
                     /gene_synonym="C6orf177; dJ62D2.1; NO145"
                     /note="hexamer: AATAAA"
     polyA_site      2909
                     /gene="SYCP2L"
                     /gene_synonym="C6orf177; dJ62D2.1; NO145"
ORIGIN
        1 ggggaagcag gagagggccg accgagcgca acaaagctga gcggcgcgtc gcttcaggaa
       61 cgaagaagcc tcgttatgca agcgaaaaac aaagatgctt tgcagcctat taaggaagac
      121 aggactggga aggcccagga tgatgctttc tggcttcaat cacttattac ggatgcattc
      181 catgataaag gatttcagaa aataaaagaa tactttcaac agaaagagag ccactttcct
      241 caaaaatata atcgtcttct attataccgt cttgacagat caataaataa ggaactagat
      301 aaaaatgaat ttcagtctgt gtcactgttg ctgaaatgta ttcagcgatt cctcgtagat
      361 ggcctgaaag aagatgaacc tctgctaatt cggcagggac tgatcccaaa gctagtttcc
      421 tggtttgaaa gaacaacagg aattctgacc tcggaaggcc tagcctcaga cacgtcgctg
      481 atttgtgtta tagaagattt ctttgacact gcattgatta tttccaggag tagtagtgaa
      541 gggaaaattc agatgttgga ttccttccta cttagcttag gattcctggt gacagaaaag
      601 actgtaaatc atttgcttca acaggagggc ttgaagactt ttaactgcat tttgcacgct
      661 gtccctcgag aagagagaaa aaaattccct ttgtcagaag gcatgtgtca tcttatgaaa
      721 gaccttgcaa ggacactctt gactgtgggt gattatgacc agcaggttgc tatttctgaa
      781 gcgctgtgta gactgacgat taaaaaatca agggatgaac ttgtccataa atggtttgat
      841 gatgaagtca ttgctgaagc tttcaaagaa attaaggatc gagaatttga gacggacagt
      901 agacgttttc tcaatcacct aaacaacaga cttggtgacc aaagaagggt gtattcattt
      961 ccgtgtattg ctgcttttgc tgatgagcat gagatgagaa aaccagcgga tgaaaaatta
     1021 gagaaatttt ggatcgactt caacctagga agtcagagtg tcacttttta tatagacaat
     1081 gctgagaata ctctatggga ctcagtgaca cttccgaagg aagcggtgat gaatttcagc
     1141 ataacagaaa cggagaagat aaagatattt atcatttacc tgaagaagcc catgattatc
     1201 agctacaaag aagtcatgaa aatagaaatc cattttgatt tgcagttcaa catatcacaa
     1261 gtttccattc aagctttagg agaagacaaa cagatgttgc ctgaccagac gaaaatctcc
     1321 tcagaacttt ttagtaagtc tgataaagaa gacagggaga gtcccagtgg ccttgaaaga
     1381 gaaacagagc aggcagaaga atccactaac atggtggagt ttatgagtgc tgaagatgac
     1441 cgctgcctaa taactctcca cttaaatgac caatctgagc cacctgttat tggggaacct
     1501 gcctctgata gtcaccttca gccggtccct ccgttcgggg tccctgactt cccgcaacaa
     1561 cctaagtctc attacagaaa acatctcttc tctgagagta atcaagattc aagtaccagt
     1621 gaactatctt ggaccagtaa ccagaaaaag aaatccctaa aatcatattc cagtagaaag
     1681 aagacaagaa ccagaagtaa tttgagaatc ttgccagttt tccctcccag tagtggcagt
     1741 ggccatgaga aagaccaagc taagcttcta tcaccatcag agaaagaaat acccgagcaa
     1801 aataacacca catctccaaa gacttctgaa caaaaattcc aagatagttt tgcttttttg
     1861 actgctgaag attctgccca gaaaacagag cttcaagatc ctcactcact gagtgagctc
     1921 tcttccttga agcactcaga agatgaagaa aaacctaaga ttgtgaacca agaatcacta
     1981 acagaaagta ctagcttgaa acataagctg agaaacttgg aagacaaaga cataccagaa
     2041 ggtagttttg ctaagtcaca acaatcaaga ttggaagaag aggttgctcc gggatcccct
     2101 ttctcaataa cagaagaaag agagttgcca gaaggaattt ccacttcatc cctagaagtt
     2161 gtgccagaga acttgaacgg ttctgccatt ctcccaacct ttgaaaactt cactaaaaaa
     2221 cggaaaagaa aatatgagct taggtacaga aagcgtccgt ttaattcaga aaatgcaaag
     2281 aaagcaccgg attgcctaat aaaactttta aaccagatgc aactgttcag actcaataaa
     2341 ctagagcgct ttcaaaattt ggttcttcaa gagttgagca gtcttaagca ggatattcag
     2401 gccctggaac accttgagaa ggaggttctg gaattctggg ggaaacagtc tgctgatctg
     2461 caatctttct gtgatctgca agtgctgagg ttcaattcaa ctcagacttc ataagaaagc
     2521 caaagcctgg ttttatgatt gcagccctca gcctgggctg cctgaagacg aagagaaaga
     2581 gcaaggttat tgttggctca ggccttgtta gccagacttc gtgctctgta cgcattcaat
     2641 ttcctcccct ccaaacatca tccctgggaa ctgctgagtt cagatagaat atatgttggt
     2701 agtttgcagt tgggttatta tccatttgtt cataaaaatt aaccttttgt attaaaattt
     2761 ggtcagatag tattaataga aagttcagga tgttaaacaa cttggagtgg tgttgctttt
     2821 tttttataaa agtaaaatgg actttttttt gtttgagaaa tgtcttcaag ttttgtgtga
     2881 ataaaacact ttagcagcat ctgtataaa
//
LOCUS       NM_001040283            1805 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens DMRT like family C2 (DMRTC2), mRNA.
ACCESSION   NM_001040283
VERSION     NM_001040283.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1805)
  AUTHORS   Yin Y, Morgunova E, Jolma A, Kaasinen E, Sahu B, Khund-Sayeed S, Das
            PK, Kivioja T, Dave K, Zhong F, Nitta KR, Taipale M, Popov A, Ginno
            PA, Domcke S, Yan J, Schubeler D, Vinson C and Taipale J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of human
            transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   2  (bases 1 to 1805)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   3  (bases 1 to 1805)
  AUTHORS   Ottolenghi C, Fellous M, Barbieri M and McElreavey K.
  TITLE     Novel paralogy relations among human chromosomes support a link
            between the phylogeny of doublesex-related genes and the evolution
            of sex determination
  JOURNAL   Genomics 79 (3), 333-343 (2002)
   PUBMED   11863363
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC029202.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000269945.8/ ENSP00000269945.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB026313.1, AJ291669.1, AC243967.3 and AC010616.5.
            On Nov 22, 2018 this sequence version replaced NM_001040283.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1805
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1805
                     /gene="DMRTC2"
                     /note="DMRT like family C2"
                     /db_xref="GeneID:63946"
                     /db_xref="HGNC:HGNC:13911"
                     /db_xref="MIM:614806"
     misc_feature    59..61
                     /gene="DMRTC2"
                     /note="upstream in-frame stop codon"
     CDS             65..1168
                     /gene="DMRTC2"
                     /codon_start=1
                     /product="doublesex- and mab-3-related transcription factor
                     C2"
                     /protein_id="NP_001035373.1"
                     /db_xref="CCDS:CCDS33034.1"
                     /db_xref="GeneID:63946"
                     /db_xref="HGNC:HGNC:13911"
                     /db_xref="MIM:614806"
                     /translation="MEPSDMPAGYHCPLDSAPWDETRDPQSTELIPRRAISRSPTCARC
                     RNHGVTAHLKGHKRLCLFQACECHKCVLILERRRVMAAQVALRRQQEAQLKKHLMRRGE
                     ASPKAPNHFRKGTTQPQVPSGKENIAPQPQTPHGAVLLAPTPPGKNSCGPLLLSHPPEA
                     SPLSWTPVPPGPWVPGHWLPPGFSMPPPVVCRLLYQEPAVSLPPFPGFDPGTSLQLPTH
                     GPFTTCPGSHPVLTAPLSGEPQGPPSQPRTHSTLILQPCGTPDPLQLQPQASGASCLAR
                     TSGPSEWQLQQEAAEALVGLKDSSQAPRVTPSVPPNPAWISLLHPCGPPAPAGGRGFQP
                     VGPCLRPSPAPSVALHIGRLGSISLLS"
     misc_feature    65..139
                     /gene="DMRTC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXT2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    371..478
                     /gene="DMRTC2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXT2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1607..1612
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DMRTC2"
                     /note="hexamer: AATAAA"
     polyA_site      1631
                     /gene="DMRTC2"
                     /note="major polyA site"
     regulatory      1778..1783
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DMRTC2"
                     /note="hexamer: AATAAA"
     polyA_site      1805
                     /gene="DMRTC2"
ORIGIN
        1 actttctcac agtgtctttg ggcgtcttct tgactgaatc tgactccatt ggaggctgtg
       61 atccatggaa cccagtgaca tgcctgctgg ctaccactgc cccttagact ctgccccctg
      121 ggatgagacc agagaccccc agagcacaga gctgatcccc aggagagcca tcagccgctc
      181 tccaacctgc gcccgctgcc gcaaccatgg tgtcaccgcc catctcaagg gccacaagcg
      241 cctctgcctc ttccaggctt gcgagtgtca caaatgtgtc ctcatcctgg agcgccgcag
      301 ggtcatggct gcccaggtgg ccttgcgtag gcagcaggag gcgcagctaa agaagcacct
      361 gatgaggaga ggggaagcct ctcccaaagc tcccaaccac ttcagaaagg gaaccactca
      421 gccacaggtc ccctctggaa aggagaacat agcaccccag cctcagaccc cccatggggc
      481 agtcctgctg gcaccgacac cccccgggaa gaactcctgt gggcctctgc tgctcagcca
      541 tcccccggaa gcctcgccct tgtcctggac tccggtgcct cctggccctt gggtccctgg
      601 acactggctg cctccaggct tctccatgcc accaccagtg gtgtgccgcc tgctgtacca
      661 agaacctgct gtctctctgc ctcccttccc tggctttgac cctggcacct ccctccagct
      721 gcccactcat gggcccttca ccacctgccc aggatctcac ccagtactga cagctcctct
      781 ttctggagag ccccaagggc cccctagcca gccccgcaca cactcaactc tgatactcca
      841 gccctgtggc accccagacc ctcttcagct acagccacag gcctctggag cctcgtgcct
      901 ggcccggaca tctggcccct cagagtggca gctgcagcaa gaggcagctg aagccctcgt
      961 ggggctgaaa gattcatccc aggctcctcg tgtgacccct tctgtgcccc ccaaccctgc
     1021 ctggatctcc ctgcttcacc cctgtggccc accagctcct gctggaggaa gaggattcca
     1081 gcctgttggc ccctgtcttc gacccagccc agccccctct gttgctctgc atattggccg
     1141 tctggggtcc atctccctcc tgagctagaa acccagagat ggaggctgtc ttgctatggc
     1201 agggaggtga cagcctgctg gcactgtata tttagtgtct tacttaagga tttatgcatg
     1261 gaatttaatg tagtacaagc ttcgggcttt tttgtttgtt tgtttgtttg tttgtttaag
     1321 ctttcaggtg cttcattagc tttcagttcc tttggtagtg tgggcatttc cttggctgac
     1381 agtggatatt cttgtaccct tcttgggtcc tgggatctct tgaaatcccc aataaagaga
     1441 gagttgtgct atttaagctg accagtatct ataaacgtgt ttgcatgagt ttacatccca
     1501 ggattccatg attctgtaaa tgcctatgca ttcatgtctg tctccatgca tgtgaaaaca
     1561 ggagagtgtt ttcattttgt gtctaggttt gtgtgagtaa gcaagaaata aacctttgtt
     1621 gttgtaagcc actgagattt ggagagtgtt accacagcct aacctagtct atcctgactg
     1681 acagaaagga cttgttcatt tcgcttctca aagtgaaaaa tctgttatcc aatagctacc
     1741 atagatgaaa acaaacttgg atttttttct ttgtccaaat aaaaaaaaat gatgtaaaga
     1801 aataa
//
LOCUS       NM_001040402            4222 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens defective in cullin neddylation 1 domain containing 4
            (DCUN1D4), transcript variant 1, mRNA.
ACCESSION   NM_001040402
VERSION     NM_001040402.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4222)
  AUTHORS   Keuss MJ, Thomas Y, Mcarthur R, Wood NT, Knebel A and Kurz T.
  TITLE     Characterization of the mammalian family of DCN-type NEDD8 E3
            ligases
  JOURNAL   J Cell Sci 129 (7), 1441-1454 (2016)
   PUBMED   26906416
REFERENCE   2  (bases 1 to 4222)
  AUTHORS   Monda JK, Scott DC, Miller DJ, Lydeard J, King D, Harper JW, Bennett
            EJ and Schulman BA.
  TITLE     Structural conservation of distinctive N-terminal
            acetylation-dependent interactions across a family of mammalian
            NEDD8 ligation enzymes
  JOURNAL   Structure 21 (1), 42-53 (2013)
   PUBMED   23201271
REFERENCE   3  (bases 1 to 4222)
  AUTHORS   Khadka S, Vangeloff AD, Zhang C, Siddavatam P, Heaton NS, Wang L,
            Sengupta R, Sahasrabudhe S, Randall G, Gribskov M, Kuhn RJ, Perera R
            and LaCount DJ.
  TITLE     A physical interaction network of dengue virus and human proteins
  JOURNAL   Mol Cell Proteomics 10 (12), M111.012187 (2011)
   PUBMED   21911577
REFERENCE   4  (bases 1 to 4222)
  AUTHORS   Kurz T, Ozlu N, Rudolf F, O'Rourke SM, Luke B, Hofmann K, Hyman AA,
            Bowerman B and Peter M.
  TITLE     The conserved protein DCN-1/Dcn1p is required for cullin neddylation
            in C. elegans and S. cerevisiae
  JOURNAL   Nature 435 (7046), 1257-1261 (2005)
   PUBMED   15988528
REFERENCE   5  (bases 1 to 4222)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX537944.1, SRR1660803.94473.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000334635.10/ ENSP00000334625.5
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK124346.1, D87466.1 and BC053897.1.
            On Nov 23, 2018 this sequence version replaced NM_001040402.2.
            Transcript Variant: This variant (1) has an alternate exon in place
            of the first exon compared to variant 3. The resulting isoform (1)
            has a shorter and distinct N-terminus compared to isoform 3.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4222
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     gene            1..4222
                     /gene="DCUN1D4"
                     /gene_synonym="DCNL4"
                     /note="defective in cullin neddylation 1 domain containing
                     4"
                     /db_xref="GeneID:23142"
                     /db_xref="HGNC:HGNC:28998"
                     /db_xref="MIM:612977"
     CDS             91..969
                     /gene="DCUN1D4"
                     /gene_synonym="DCNL4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     DCN1-like protein 4; DCUN1 domain-containing protein 4;
                     defective in cullin neddylation protein 1-like protein 4;
                     DCN1, defective in cullin neddylation 1, domain containing
                     4"
                     /codon_start=1
                     /product="DCN1-like protein 4 isoform 1"
                     /protein_id="NP_001035492.1"
                     /db_xref="CCDS:CCDS33982.1"
                     /db_xref="GeneID:23142"
                     /db_xref="HGNC:HGNC:28998"
                     /db_xref="MIM:612977"
                     /translation="MHSDAAAVNFQLNSHLSTLANIHKIYHTLNKLNLTEDIGQDDHQT
                     GSLRSCSSSDCFNKVMPPRKKRRPASGDDLSAKKSRHDSMYRKYDSTRIKTEEEAFSSK
                     RCLEWFYEYAGTDDVVGPEGMEKFCEDIGVEPENVVMLVLAWKLDAQNMGYFTLQEWLK
                     GMTSLQCDTTEKLRNTLDYLRSFLNDSTNFKLIYRYAFDFAREKDQRSLDINTAKCMLG
                     LLLGKIWPLFPVFHQFLEQSKYKVINKDQWCNVLEFSRTINLDLSNYDEDGAWPVLLDE
                     FVEWYKDKQMS"
     misc_feature    217..339
                     /gene="DCUN1D4"
                     /gene_synonym="DCNL4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92564.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4193..4198
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCUN1D4"
                     /gene_synonym="DCNL4"
                     /note="hexamer: AATAAA"
     polyA_site      4222
                     /gene="DCUN1D4"
                     /gene_synonym="DCNL4"
                     /note="major polyA site"
ORIGIN
        1 agcttcgagc cgaggtgcag tgagctggtg gggggaccgc gaggcgagcg cgggagcctg
       61 ggcggcgagc cgggtgtgag ctgcctgaaa atgcactcgg atgccgccgc tgtcaatttt
      121 cagctgaact ctcatctctc aacactggca aatattcata agatctacca cacccttaat
      181 aagctgaacc taacagaaga cattggccaa gacgatcacc aaacaggaag tctgcggtct
      241 tgcagttctt cagactgctt taataaagtg atgccaccaa ggaaaaagag aagacctgcc
      301 tctggagatg atttatctgc caagaaaagt agacatgata gcatgtatag aaaatatgat
      361 tcgactagaa taaagactga agaagaagcc ttttcaagta aaaggtgctt ggaatggttc
      421 tatgaatatg caggaactga tgatgttgta ggccctgaag gcatggagaa attttgtgaa
      481 gacattggtg ttgaaccaga aaacgtagtt atgcttgtcc tagcttggaa attggatgca
      541 caaaacatgg gttattttac tctacaggag tggttaaaag gaatgacttc tctccaatgt
      601 gatacaacag aaaaactcag aaatactttg gattacttaa gatcattctt aaatgattct
      661 acaaacttta aacttattta cagatatgcg tttgactttg cacgggaaaa ggaccagcgc
      721 agcctagaca taaacactgc caagtgcatg ttgggactgt tattaggaaa aatctggccc
      781 ctttttccag tttttcacca attcttagag caatcaaaat acaaagttat taataaagac
      841 cagtggtgca atgtcctaga gtttagcaga acaattaatc ttgacctcag caactatgat
      901 gaagatggag catggccagt tttgttggac gagtttgtgg agtggtataa agacaaacag
      961 atgtcctagg actttatgca tagcagcgag agagtcactg ttaccacagt tttgtcaccc
     1021 attagccata aattgctgtt tgtatcaaag cgcatgctgc ttctcttgca ctgtttccct
     1081 ttcgcaggga catgttggtg tttgctattg aattggccag ctctgcttgc tgtgtggcat
     1141 tgttctcttg gaaggctgct ttgcagtttg tatttacact acagattggt gaatttgcca
     1201 acgtcctcac tgtgattatg tgtatattgc tgtttaaatt ttgtatatgt gtataaaagg
     1261 aaaaaggttc acctagagat tatttctgaa aaatgtattg taaaaataat tttgtggcat
     1321 ttctagtccc tttttttgaa tgaaccaatt atactttatt tggtctccta tgtagcattt
     1381 cagaaaacaa gagaaaactg ttaccatgaa caaacattgc cagaattaac cttactgttt
     1441 aagaggccaa cttctggaag gaggtaggag tcataacttt ttagaggcat atgccaaata
     1501 tcatttggta tacttaacaa tattagtgtt ttaaaatgat gagttataat tatttgaaca
     1561 tatagatatg taacatgcca caaatcattt ctaccatgca aggtgtataa gttgtttatt
     1621 ttttagtgtt aaaactataa tagcttgaat ataggtacca atgaacaaat tcaaattgca
     1681 cctcttttct taaaagaatg ggatttaaac tcttataaac attctttaac ttttttgttt
     1741 gtttgttctc tttttttcct tttgcattct tctagccagt gattgatctg ctaatgcttt
     1801 ctttgccact ctaagtaaaa tttatttcac ctcctcaatg aaaacctcat ggttttgctg
     1861 gctgtttata actgcatcgc acttctagtt gtggcttgaa ttttcagtta agctttcatg
     1921 gtatgtaatt ttccagcctt ttgagaaaac aagcatacta taagtgagag ctgttttgtt
     1981 ttccttgttt gtttgtttca tgctaggctt ttcctggcag catgtccatt gcaggcagtg
     2041 gacaagaaac caccagcatt gagctaaccc agtacatgct aggacctgtc ctagaggggc
     2101 cacttttcat tacctgagtt atttgtacag aagggcaata gccattattt ttgtggatga
     2161 ggaaacaaga ataaacagaa tggtattttt aggtttgtat tttatgtctt tttttttttt
     2221 tttttttgcc attcttgagg aaatatagag atgacatgtt ttcaccccaa ctatctggtg
     2281 ctattgaatg actaattcag tccctaaagt tctgtgaaaa cacaaaagtc taatgatttg
     2341 agtgagtaaa aggtaatggt gcatttgaac aagtaaatgc tgtcgtggtc agcaagatcc
     2401 gtgatttgaa catgtgatga ctggaaaaag gtttgggtta tttggaactc tggctaaaac
     2461 ttctttcggg tgacatgtga tcgtttaaat ggcattaagt gaataaagca cacagacagt
     2521 gctactcttg accactattt taccatttct ttgcaaacag tgttcacatt ttcatatttt
     2581 ttccctaact aaaccaccaa agaaagaaat tttgtatgta tatacagtgt gtgtgtatac
     2641 aaaatcatga tatagtagaa tgcaactact ttctttttct accaaacgaa aggttttatt
     2701 tgctgtgaaa taaaccagaa gtttaaaaaa ccctgtagtg attaagcata cttaaccact
     2761 ccttatttgt agattcactt tcaaccttaa aaattaatac cagtttgcat aaaccaatat
     2821 ctgaaaagaa caggaaatgt taatggcaag caacagctat taatactgat gtgatggatg
     2881 catttgtttt gcagtggtga ctggcctagg caggtttgga tctgtgaaga attgattcat
     2941 tttcaaaatt attccataaa gttaaaaagt tacactttaa aggcaacagg tcatacagtt
     3001 ctttaaatct gatcaactgt agctttattt aaagcaaata taaatcatag atgaagttat
     3061 tttaaacact atgttagaat atagagattt ttaaaaaatg ctgataagca cagttaattc
     3121 taaaatgaga ggattgttac aggagggaga tgttacagtt aatccacaat caacattttg
     3181 atggtaggga aaaaactgcg taaaaactat tgcattatgt atgataagaa agtaagtatt
     3241 ccaaagggat aatcttgcat attaagaaaa ctccaaataa tctttaaact gccttgaaaa
     3301 ataaacctct ttgactgctg agcggcagag tgcttaccct tgattgtctt gattttatat
     3361 atttatttct aaggggagaa aaaggggtca gacagagtaa tatgatacat tttcttaaaa
     3421 acttctctaa gttgcacaaa actgaacaat catcaagcac ttatttactg gctaatgttg
     3481 aataaattag ggtgccttca tctgggtttt ctttagtacc taagtctaca accctttctc
     3541 tttttctatt gtgtttcgaa ctccacattg caatactctg ttgtcatgga atacaacctt
     3601 tagatgttta ctgctgaagt aggtcagaaa ttgtattatt tgatttgcct caaacatcca
     3661 ctgtaatgtt acatgcacct tttttgaagc atgaactctg aattatgttt ttataaatct
     3721 gactaggcaa acctagattc tggtttcaca atggatttat tttctctctc agtctccatt
     3781 ttaacagtgc ttttgaagtt tatacagaaa gctttaaaag ttagtttgtg cccttggttt
     3841 ttattcttaa aactgctaaa atacctctgt aagccttatc ctttattctt tcatatgttg
     3901 tataataaat gtatagattt cattgaccaa ctaaaatgtt gggtgtctgt aaatgagacc
     3961 aaaacgtggg ttgctttttt cataaaataa tttctattgg gggttactgt tcaatgacag
     4021 caggtaacct ataactgtga atgcttcgtg tcgtcagtat ttgcattaca ttcataaaag
     4081 tgtgcaagtc ctgtgactcc cagcttaact gaaatactgt tatgccacct aacttgagta
     4141 cagcaaactg gttttaggtt tcaatgacat tgatgtaaaa tgatatccca tgaataaaaa
     4201 gtatttgtgt ttggtttcag aa
//
LOCUS       NM_001040424            6525 bp    mRNA    linear   PRI 23-MAY-2023
DEFINITION  Homo sapiens PR/SET domain 15 (PRDM15), transcript variant 2, mRNA.
ACCESSION   NM_001040424
VERSION     NM_001040424.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6525)
  AUTHORS   Zhao LN, Guccione E and Kaldis P.
  TITLE     Proof-of-Concept Method to Study Uncharacterized Methyltransferases
            Using PRDM15
  JOURNAL   Int J Mol Sci 24 (2), 1327 (2023)
   PUBMED   36674842
  REMARK    GeneRIF: Proof-of-Concept Method to Study Uncharacterized
            Methyltransferases Using PRDM15. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6525)
  AUTHORS   Mann N, Mzoughi S, Schneider R, Kuhl SJ, Schanze D, Klambt V, Lovric
            S, Mao Y, Shi S, Tan W, Kuhl M, Onuchic-Whitford AC, Treimer E,
            Kitzler TM, Kause F, Schumann S, Nakayama M, Buerger F, Shril S, van
            der Ven AT, Majmundar AJ, Holton KM, Kolb A, Braun DA, Rao J,
            Jobst-Schwan T, Mildenberger E, Lennert T, Kuechler A, Wieczorek D,
            Gross O, Ermisch-Omran B, Werberger A, Skalej M, Janecke AR, Soliman
            NA, Mane SM, Lifton RP, Kadlec J, Guccione E, Schmeisser MJ, Zenker
            M and Hildebrandt F.
  TITLE     Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
  JOURNAL   J Am Soc Nephrol 32 (3), 580-596 (2021)
   PUBMED   33593823
  REMARK    GeneRIF: Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat
            Syndrome.
REFERENCE   3  (bases 1 to 6525)
  AUTHORS   Mzoughi S, Di Tullio F, Low DHP, Motofeanu CM, Ong SLM, Wollmann H,
            Wun CM, Kruszka P, Muenke M, Hildebrandt F, Dunn NR, Messerschmidt
            DM and Guccione E.
  TITLE     PRDM15 loss of function links NOTCH and WNT/PCP signaling to
            patterning defects in holoprosencephaly
  JOURNAL   Sci Adv 6 (2), eaax9852 (2020)
   PUBMED   31950080
  REMARK    GeneRIF: PRDM15 loss of function links NOTCH and WNT/PCP signaling
            to patterning defects in holoprosencephaly. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 6525)
  AUTHORS   Hosgood Iii HD, Diaz-Pena R, Blansky D, Jaime S, Parra V,
            Boekstegers F, Bermejo JL, Garcia-Valero J, Montes JF, Valdivia G,
            Miravitlles M, Agusti A, Silva RS and Olloquequi J.
  TITLE     PRDM15 Is Associated with Risk of Chronic Obstructive Pulmonary
            Disease in a Rural Population in Chile
  JOURNAL   Respiration 99 (4), 307-315 (2020)
   PUBMED   32222710
  REMARK    GeneRIF: PRDM15 Is Associated with Risk of Chronic Obstructive
            Pulmonary Disease in a Rural Population in Chile.
REFERENCE   5  (bases 1 to 6525)
  AUTHORS   Mzoughi S, Zhang J, Hequet D, Teo SX, Fang H, Xing QR, Bezzi M, Seah
            MKY, Ong SLM, Shin EM, Wollmann H, Wong ESM, Al-Haddawi M, Stewart
            CL, Tergaonkar V, Loh YH, Dunn NR, Messerschmidt DM and Guccione E.
  TITLE     PRDM15 safeguards naive pluripotency by transcriptionally regulating
            WNT and MAPK-ERK signaling
  JOURNAL   Nat Genet 49 (9), 1354-1363 (2017)
   PUBMED   28740264
  REMARK    GeneRIF: Findings indicate that PR domain containing 15 protein
            (PRDM15) is important in both mouse and human induced pluripotent
            stem cells (iPSCs) reprogramming.
REFERENCE   6  (bases 1 to 6525)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   7  (bases 1 to 6525)
  AUTHORS   Shibuya K, Kudoh J, Okui M and Shimizu N.
  TITLE     Identification of a novel zinc finger protein gene (ZNF298) in the
            GAP2 of human chromosome 21q
  JOURNAL   Biochem Biophys Res Commun 332 (2), 557-568 (2005)
   PUBMED   15904895
REFERENCE   8  (bases 1 to 6525)
  AUTHORS   Gardiner K, Slavov D, Bechtel L and Davisson M.
  TITLE     Annotation of human chromosome 21 for relevance to Down syndrome:
            gene structure and expression analysis
  JOURNAL   Genomics 79 (6), 833-843 (2002)
   PUBMED   12036298
REFERENCE   9  (bases 1 to 6525)
  AUTHORS   Reymond A, Camargo AA, Deutsch S, Stevenson BJ, Parmigiani RB, Ucla
            C, Bettoni F, Rossier C, Lyle R, Guipponi M, de Souza S, Iseli C,
            Jongeneel CV, Bucher P, Simpson AJ and Antonarakis SE.
  TITLE     Nineteen additional unpredicted transcripts from human chromosome 21
  JOURNAL   Genomics 79 (6), 824-832 (2002)
   PUBMED   12036297
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB051812.1, SRR14038196.2841229.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000398548.6/ ENSP00000381556.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB051812.1, HY066601.1 and AP002955.1.
            On Oct 22, 2019 this sequence version replaced NM_001040424.2.
            Transcript Variant: This variant (2) lacks seven alternate in-frame
            exons and differs in the 3' UTR, compared to variant 1. The encoded
            isoform (2) is shorter than isoform 1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6525
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..6525
                     /gene="PRDM15"
                     /gene_synonym="C21orf83; PFM15; ZNF298"
                     /note="PR/SET domain 15"
                     /db_xref="GeneID:63977"
                     /db_xref="HGNC:HGNC:13999"
                     /db_xref="MIM:617692"
     CDS             85..3510
                     /gene="PRDM15"
                     /gene_synonym="C21orf83; PFM15; ZNF298"
                     /note="isoform 2 is encoded by transcript variant 2; zinc
                     finger protein 298; PR domain zinc finger protein 15; PR
                     domain containing 15; PR domain 15"
                     /codon_start=1
                     /product="PR domain zinc finger protein 15 isoform 2"
                     /protein_id="NP_001035514.2"
                     /db_xref="CCDS:CCDS42932.2"
                     /db_xref="GeneID:63977"
                     /db_xref="HGNC:HGNC:13999"
                     /db_xref="MIM:617692"
                     /translation="MAEDGSEEIMFIWCEDCSQYHDSECPELGPVVMVKDSFVLSRARS
                     SLPPNLEIRRLEDGAEGVFAITQLVKRTQFGPFESRRVAKWEKESAFPLKVFQKDGHPV
                     CFDTSNEDDCNWMMLVRPAAEAEHQNLTAYQHGSDVYFTTSRDIPPGTELRVWYAAFYA
                     KKMDKPMLKQAGSGVHAAGTPENSAPVESEPSQWACKVCSATFLELQLLNEHLLGHLEQ
                     AKSLPPGSQSEAAAPEKEQDTPRGEPPAVPESENVATKEQKKKPRRGRKPKVSKAEQPL
                     VIVEDKEPTEQVAEIITEVPPDEPVSATPDERIMELVLGKLATTTTDTSSVPKFTHHQN
                     NTITLKRSLILSSRHGIRRKLIKQLGEHKRVYQCNICSKIFQNSSNLSRHVRSHGDKLF
                     KCEECAKLFSRKESLKQHVSYKHSRNEVDGEYRYRCGTCEKTFRIESALEFHNCRTDDK
                     TFQCEMCFRFFSTNSNLSKHKKKHGDKKFACEVCSKMFYRKDVMLDHQRRHLEGVRRVK
                     REDLEAGGENLVRYKKEPSGCPVCGKVFSCRSNMNKHLLTHGDKKYTCEICGRKFFRVD
                     VLRDHIHVHFKDIALMDDHQREEFIGKIGISSEENDDNSDESADSEPHKYSCKRCQLTF
                     GRGKEYLKHIMEVHKEKGYGCSICNRRFALKATYHAHMVIHRENLPDPNVQKYIHPCEI
                     CGRIFNSIGNLERHKLIHTGVKSHACEQCGKSFARKDMLKEHMRVHDNVREYLCAECGK
                     GMKTKHALRHHMKLHKGIKEYECKECHRRFAQKVNMLKHCKRHTGIKDFMCELCGKTFS
                     ERNTMETHKLIHTVGKQWTCSVCDKKYVTEYMLQKHVQLTHDKVEAQSCQLCGTKVSTR
                     ASMSRHMRRKHPEVLAVRIDDLDHLPETTTIDASSIGIVQPELTLEQEDLAEGKHGKAA
                     KRSHKRKQKPEEEAGAPVPEDATFSEYSEKETEFTGSVGDETNSAVQSIQQVVVTLGDP
                     NVTTPSSSVGLTNITVTPITTAAATQFTNLQPVAVGHLTTPERQLQLDNSILTVTFDTV
                     SGSAMLHNRQNDVQIHPQPEASNPQSVAHFINLTTLVNSITPLGSQLSDQHPLTWRAVP
                     QTDVLPPSQPQAPPQQAAQPQVQAEQQQQQMYSY"
     regulatory      6496..6501
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRDM15"
                     /gene_synonym="C21orf83; PFM15; ZNF298"
                     /note="hexamer: AATAAA"
     polyA_site      6525
                     /gene="PRDM15"
                     /gene_synonym="C21orf83; PFM15; ZNF298"
                     /note="major polyA site"
ORIGIN
        1 ggtgctgcgc agtttccgga gcggatcgca acccggagtc cggatccgat cccgctctgc
       61 acattccaaa ggcaggtgtc agagatggct gaagatggga gcgaagagat catgttcatc
      121 tggtgtgaag actgcagcca gtaccacgac tccgaatgtc ccgagctggg cccagtggtc
      181 atggtcaaag actcctttgt gttaagcagg gcaaggtcat cccttcctcc caacttggag
      241 atcagacgac tggaagatgg agccgagggg gtgttcgcca tcactcagct cgtcaagcgg
      301 acacagttcg gtccctttga gtccaggagg gtcgccaaat gggaaaagga gtctgcattt
      361 cccctgaagg tgttccagaa ggacgggcac cccgtgtgct tcgacacctc caacgaggat
      421 gactgcaact ggatgatgct ggtgcggcca gcggcggagg ccgagcacca gaacctgacg
      481 gcctaccagc acggcagcga cgtgtacttc accacctcca gagacatccc cccgggtacc
      541 gagctgcgcg tgtggtatgc ggccttctat gccaagaaga tggacaagcc catgctgaag
      601 caggccggct ctggcgtcca cgctgcaggc accccagaaa acagcgcccc cgtggagtcg
      661 gagcccagcc agtgggcgtg taaagtgtgt tctgccacct tcctggagct gcagctcctc
      721 aatgaacatc tgttgggcca cttagaacaa gccaaaagcc ttcctccagg cagccaaagc
      781 gaggcagcag ctcccgagaa ggagcaggac acaccccggg gggaaccccc tgcagtgccc
      841 gagagcgaga atgttgccac caaagaacag aagaaaaagc ctcgaagggg gagaaaaccc
      901 aaagtgtcca aagctgagca gcctctagtc atcgtggaag acaaggaacc cacagagcaa
      961 gtggcagaga tcattaccga ggtccctccg gatgagcctg tgagtgcaac gccagatgag
     1021 cggatcatgg agctggttct ggggaagctg gccaccacca ccactgacac cagctcggtt
     1081 ccaaagttca cccatcatca gaataacacc atcacgctca agaggagctt aattctctca
     1141 agcagacacg gcatccggcg caagctcatc aaacagctcg gggagcacaa gcgggtttac
     1201 cagtgcaata tctgcagcaa gatcttccag aacagcagca acctgagcag gcacgtgcgc
     1261 tcgcatggtg acaagctgtt taagtgcgaa gagtgtgcaa aattgttcag ccgcaaagag
     1321 agcctaaagc agcacgtttc ctacaagcac agcaggaacg aggtggacgg cgagtacagg
     1381 taccgctgcg gcacttgtga gaagaccttc cgcatcgaga gcgcgctgga gttccacaac
     1441 tgcaggacag atgacaagac gttccaatgt gagatgtgtt tcagattctt ctccaccaac
     1501 agcaacctct ccaagcacaa gaagaagcac ggcgacaaga agtttgcctg tgaggtctgc
     1561 agcaagatgt tctaccgcaa ggacgtcatg ctggaccacc agcgccggca cctggaagga
     1621 gtgcggcgag tgaagcgaga ggacctggag gccggtgggg agaacctggt ccgttacaag
     1681 aaggagcctt ccgggtgccc ggtgtgtggc aaggtgttct cctgccggag caatatgaac
     1741 aagcacctgc tcacccacgg cgacaagaag tacacctgcg agatctgcgg gcgcaagttc
     1801 ttccgcgtgg atgtgctcag ggaccacatc catgtccact tcaaggacat cgcgttgatg
     1861 gatgaccacc agagggaaga gtttatcggc aagatcggga tctcctcgga agaaaacgat
     1921 gacaattctg acgagagcgc agactcggag cctcacaagt acagctgcaa gcggtgccag
     1981 ctcaccttcg gccgggggaa ggagtacctg aagcacatca tggaggtgca caaggagaag
     2041 ggctatggct gcagcatctg caaccggcgc tttgcactga aggccaccta ccacgcccac
     2101 atggtcatcc accgtgaaaa cctgccggac cccaacgtgc agaagtacat ccacccctgc
     2161 gagatctgcg ggcggatctt caacagcatc gggaacctgg agcgccacaa gctcatccac
     2221 acaggtgtga agagccacgc ctgcgagcag tgtgggaagt cctttgccag gaaggacatg
     2281 ctgaaggagc acatgcgtgt gcacgacaat gtccgcgagt acctgtgtgc cgagtgtggg
     2341 aaaggcatga agaccaagca cgcgctgcgc caccacatga agctgcacaa gggcatcaag
     2401 gagtacgagt gcaaggagtg ccaccgcagg ttcgcgcaga aggtcaacat gctcaagcac
     2461 tgcaagcggc acacggggat taaagatttc atgtgtgaat tgtgtgggaa gacattcagc
     2521 gagaggaaca ccatggagac ccacaagctc atccacacag tgggcaagca gtggacgtgc
     2581 tccgtgtgcg acaagaagta cgtgaccgag tacatgctgc agaagcacgt tcagctcaca
     2641 cacgacaagg tggaggcgca gagctgccag ctgtgcggga ccaaggtgtc caccagggcc
     2701 tccatgagcc gacacatgcg gcgcaagcac cccgaggtgc tcgcggtgag gatcgatgac
     2761 ctggaccacc tcccggagac caccaccatc gacgcctcct ccattggcat cgtccagcct
     2821 gagctgactc tggagcagga ggatttggcc gaagggaagc acgggaaagc tgccaagcga
     2881 agtcacaaga gaaagcagaa gccagaagag gaggcgggtg ctccggtgcc cgaggacgcc
     2941 accttcagcg aatactcaga gaaagagacg gagttcacag gcagtgtagg cgacgagacc
     3001 aattccgcag tacagagcat tcagcaggta gtggtgaccc tgggtgaccc aaatgtgacc
     3061 acaccatcga gctcagtcgg cttaaccaac atcaccgtga cccccatcac cactgcggcc
     3121 gcgactcagt ttaccaatct ccagccggtg gccgtggggc accttaccac ccctgaacgc
     3181 cagttacagc tggacaactc aatcctgacc gtgacctttg ataccgtcag cggctctgcc
     3241 atgttgcaca accgccaaaa tgacgtccag atccaccccc agccggaagc ctcgaaccca
     3301 cagtctgtgg cccatttcat caacctgacg accctggtca actccatcac gcccctgggg
     3361 agccagctta gtgaccagca cccgctcacg tggcgggcag tgccccagac tgacgtcttg
     3421 ccaccctcgc agccgcaggc acccccacag caggcggccc agccccaggt gcaggcggag
     3481 cagcagcagc agcagatgta cagctactga gctgcgttcc gggagactcg gggcaagaac
     3541 tgcagaggga tgtttgggat ttgtttagat gtgtttgctg gataccaaac aaacaaaaag
     3601 tcatacattg caatgtaagg ttgacttagc tttgcagagt atctccagat cccccgccag
     3661 caaccattac ggtctgtcag cttaactcta gaagggacct ctggcaggcc agagttttaa
     3721 actggatggg gctccacacc atgccttacc aaggcagtaa gtcctgggcc ggggccgcat
     3781 ctgcctcccc ttacagaacc agtgttcgcc cgacacaggg ttcgggaaag tgaagctgag
     3841 agagaagcag gattttaaga ggcaggagat aagttattag gaacacaaat ggttcatttt
     3901 cttttttctt ttagagctcg gttcctatga gaacacagac agtattcaca ggtggcagca
     3961 ggcagcaggg aacattttct cctcacttct ggattttttt gcaagcgagc acatagaagt
     4021 taaagtaacg tgtattctct ttgaactagg agtggagtcg gttcttatac aactatgggc
     4081 tgaaaccatg aggcgtgctg agccgcacct gatcctgcaa ccttcgaggt catcacggtc
     4141 atcatgtgca aggggtcacg tgaggtcact gactccagct caaaacgcat cttagtaata
     4201 tccatgaatc gatttccaat agagtttttt tccttttttt tttttaactt tatttcaaac
     4261 atacattatg tgttcaagac tgttatggcc aatattgtgt tttagtttta tgttaacatg
     4321 ataaagtcat gtgcactgta ggaccatctg tccctgtcca cccttcacag ctgcccagat
     4381 gcagagggtc gcgcggctgt gtgtgaggag tgagcctccc tgctgccccc aggggctcct
     4441 ccgggttgtc tcaggattct ctgcaatcca aatgtatcca ttctggctga agcccagcca
     4501 gaatcccgag tggaagaaac gggggaaaag tcatattttc cttctgttta aacttcaatt
     4561 ccaaaggttg gtgtatttca tgaccagttt tctataaaaa tattgaatga gtttggctct
     4621 ttacaatgga aaagtgtagg tatttctgaa acacagagaa aatgctattt cctgccaggt
     4681 ggtaatgaaa gcagagaggt tagttcacta atagaagcat taattgcccc taaaactgaa
     4741 tgtgcggtga acagccaggt ctgcgtgtgc ggggacacgt gctgtcacgt ctgtgtacca
     4801 gtttcggggg caggggccag ggttggggga ggcacccagc cctcctgctg cccacgacaa
     4861 gaaacactga gaggtgtggg gagaagtttg ctcttaactt tcctggtact ctgtttgtgg
     4921 ccacagtgag aggacaaacc tgccttaagg tgtcctgctt tgccagttat cccagatcct
     4981 gcactcactg ggagtccatc ttgaggaaac actggcatgg ctgagtaatt gatcaggagc
     5041 agtcctgatg ttgccagcag aacaaaggat gattgtgttt ttcaaaacgc aactttctca
     5101 gcacttcact ccaaacagca gacttttgag gacagggctg gaatttgttt tgtgcaatat
     5161 atgccttcat gaactaagga atgttcatcc ccaggcagca tgcaggaggg tctgtggggc
     5221 tcacctcctc accttaccca ccatcactcg cgcctagctc tcacctctca gttgaatgaa
     5281 tagtgggaga tcatttgact tttaatttat gagaattatt ttatgttatt tatgtatata
     5341 attaactgtt ttatacatag tagtctcatc aaatgaattc gggcttgggg tgatattgtc
     5401 tccattctcc agatacaagt gctccaggca tccatggaat cagcaggaga ccagggctcc
     5461 taagatatat ttttaaaaat cagtatcgat ttctttttgc ctttgcagaa tctaaagggc
     5521 aaatgacctc gcagagactc ccaacgggct ttgggctcat gacgaaacac ccactagcat
     5581 tgatctttta ttcctcttcc ctataaaata aaggccttgg aaatcacaat tttatttttt
     5641 taaagaagtt gttttagtgc ctagagtaag accgcatcaa atgttgttaa agaacctaat
     5701 ttagattgtg tggtatatac cactgtttat ctcaatacac agacacctct tacttcttgt
     5761 tataagtgag aactctaaag aaaaatcaaa ctcccaagtt ttctgtaaac atacgtggtc
     5821 ttaatagggt cactgtctga ggcaaaatgg gttgtcttaa agcaattgct acaaatttgc
     5881 atcaaagaaa ctagatagca aaatacaaca accatgtacc acccaggcag aagagtcctc
     5941 acctatacgc agttctgcat attgatcatc atgacaggaa gtatttcgtt ttttaactga
     6001 tcccaggtgc acagatgtat tcataaagga agacattaga tccagccatt gtggccacca
     6061 ggctctgtgg acccatctca gtggagaatt cgttttggac ccgtggctcc gtgcagctgt
     6121 ggactcgagt gccatccact ggtgtgagtc ttgcggggag gccacaggta cagctgctcc
     6181 ccgtgaatcc tggtctgtgg gttgagaagg ggctcgggcc tctggaatgc tctagcgtgt
     6241 gacgtgttct caggaaaacg ttctgtgcca agtgccgcct cgctgtgtcc ggcatgggac
     6301 tgcgctggag ggtccggcgt ggaaggcaga cctcctgtac ctctatcgtt cccatttgtg
     6361 gcatccaaag gcggaaggct catggcttcc ccactagagg cggcgtcttg ggctttccca
     6421 ttggattgtg aaaggcatta agactgtttg gagatgttgg ctgtatttcc tgtcacatca
     6481 ggttgtatga tgacgaataa aaggtgctgt gacccgtgtt ttcaa
//
LOCUS       NM_001040425             765 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens U2 small nuclear RNA auxiliary factor 1 like 4
            (U2AF1L4), transcript variant 1, mRNA.
ACCESSION   NM_001040425
VERSION     NM_001040425.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 765)
  AUTHORS   Herdt O, Reich S, Medenbach J, Timmermann B, Olofsson D, Preussner M
            and Heyd F.
  TITLE     The zinc finger domains in U2AF26 and U2AF35 have diverse
            functionalities including a role in controlling translation
  JOURNAL   RNA Biol 17 (6), 843-856 (2020)
   PUBMED   32116123
  REMARK    GeneRIF: The zinc finger domains in U2AF26 and U2AF35 have diverse
            functionalities including a role in controlling translation.
REFERENCE   2  (bases 1 to 765)
  AUTHORS   Yurova KA, Sokhonevich NA, Khaziakhmatova OG and Litvinova LS.
  TITLE     [Cytokine-mediated regulation of expression of Gfi1 and U2afll4
            genes activated by T-cells with different differentiation status in
            vitro]
  JOURNAL   Biomed Khim 62 (2), 180-186 (2016)
   PUBMED   27143377
  REMARK    GeneRIF: U2AF1L4 gene expression is regulated by cytokines in
            activated T cells.
REFERENCE   3  (bases 1 to 765)
  AUTHORS   Didych DA, Shamsutdinov MF, Smirnov NA, Akopov SB, Monastyrskaya GS,
            Uspenskaya NY, Nikolaev LG and Sverdlov ED.
  TITLE     Human PSENEN and U2AF1L4 genes are concertedly regulated by a
            genuine bidirectional promoter
  JOURNAL   Gene 515 (1), 34-41 (2013)
   PUBMED   23246698
  REMARK    GeneRIF: a 269 bp region located between the PSENEN and U2AF1L4
            human genes is a genuine bidirectional promoter regulating a
            concerted divergent transcription of these genes.
REFERENCE   4  (bases 1 to 765)
  AUTHORS   Didych DA, Smirnov NA, Kotova ES, Akopov SB, Nikolaev LG and
            Sverdlov ED.
  TITLE     Functional dissection of an enhancer-like element located within the
            second intron of the human U2AF1L4 gene
  JOURNAL   Biochemistry (Mosc) 76 (8), 951-957 (2011)
   PUBMED   22022969
  REMARK    GeneRIF: One of the conservative regions is responsible for the
            enhancer activity and is able to interact with proteins of HeLa cell
            nuclear extract.
REFERENCE   5  (bases 1 to 765)
  AUTHORS   Heyd F, Carmo-Fonseca M and Moroy T.
  TITLE     Differential isoform expression and interaction with the P32
            regulatory protein controls the subcellular localization of the
            splicing factor U2AF26
  JOURNAL   J Biol Chem 283 (28), 19636-19645 (2008)
   PUBMED   18460468
  REMARK    GeneRIF: Differential isoform expression and interaction with the
            P32 regulatory protein controls the subcellular localization of the
            splicing factor U2AF26
REFERENCE   6  (bases 1 to 765)
  AUTHORS   Shepard J, Reick M, Olson S and Graveley BR.
  TITLE     Characterization of U2AF(6), a splicing factor related to U2AF(35)
  JOURNAL   Mol Cell Biol 22 (1), 221-230 (2002)
   PUBMED   11739736
REFERENCE   7  (bases 1 to 765)
  AUTHORS   Pearsall RS, Shibata H, Brozowska A, Yoshino K, Okuda K, deJong PJ,
            Plass C, Chapman VM, Hayashizaki Y and Held WA.
  TITLE     Absence of imprinting in U2AFBPL, a human homologue of the imprinted
            mouse gene U2afbp-rs
  JOURNAL   Biochem Biophys Res Commun 222 (1), 171-177 (1996)
   PUBMED   8630064
REFERENCE   8  (bases 1 to 765)
  AUTHORS   Kitagawa K, Wang X, Hatada I, Yamaoka T, Nojima H, Inazawa J, Abe T,
            Mitsuya K, Oshimura M, Murata A et al.
  TITLE     Isolation and mapping of human homologues of an imprinted mouse gene
            U2af1-rs1
  JOURNAL   Genomics 30 (2), 257-263 (1995)
   PUBMED   8586425
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY569437.3 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148874,
            SAMEA2153733 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378975.8/ ENSP00000368258.2
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC415103.1, AY569437.3 and AI767079.1.
            On Nov 22, 2018 this sequence version replaced NM_001040425.2.
            Transcript Variant: This variant (1) has an alternate splice site
            in the coding region, which results in reading frameshift, compared
            to variant 2. The resulting isoform (1) is shorter and has a
            distinct C-terminus, compared to isoform 2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..765
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..765
                     /gene="U2AF1L4"
                     /gene_synonym="U2AF1-RS3; U2AF1L3; U2AF1L3V1; U2AF1RS3;
                     U2af26"
                     /note="U2 small nuclear RNA auxiliary factor 1 like 4"
                     /db_xref="GeneID:199746"
                     /db_xref="HGNC:HGNC:23020"
                     /db_xref="MIM:601080"
     CDS             28..573
                     /gene="U2AF1L4"
                     /gene_synonym="U2AF1-RS3; U2AF1L3; U2AF1L3V1; U2AF1RS3;
                     U2af26"
                     /note="isoform 1 is encoded by transcript variant 1;
                     U2(RNU2) small nuclear RNA auxiliary factor 1-like 3; U2
                     small nuclear RNA auxiliary factor 1-like 3; splicing
                     factor U2AF 26 kDa subunit; U2AF1-like protein 3;
                     U2AF1-like 4; U2 auxiliary factor 26; U2 small nuclear RNA
                     auxiliary factor 1-like protein 3; U2 small nuclear RNA
                     auxiliary factor 1-like protein 4; U2(RNU2) small nuclear
                     RNA auxiliary factor 1-like protein 3"
                     /codon_start=1
                     /product="splicing factor U2AF 26 kDa subunit isoform 1"
                     /protein_id="NP_001035515.1"
                     /db_xref="CCDS:CCDS42551.1"
                     /db_xref="GeneID:199746"
                     /db_xref="HGNC:HGNC:23020"
                     /db_xref="MIM:601080"
                     /translation="MAEYLASIFGTEKDKVNCSFYFKIGVCRHGDRCSRLHNKPTFSQE
                     VFTELQEKYGEIEEMNVCDNLGDHLVGNVYVKFRREEDGERAVAELSNRWFNGQAVHGE
                     LSPVTDFRESCCRQYEMGECTRGGFCNFMHLRPISQNLQRQLYGRGPRRRSPPRFHTGH
                     HPRERNHRCSPDHWHGRF"
     regulatory      735..740
                     /regulatory_class="polyA_signal_sequence"
                     /gene="U2AF1L4"
                     /gene_synonym="U2AF1-RS3; U2AF1L3; U2AF1L3V1; U2AF1RS3;
                     U2af26"
                     /note="hexamer: AATAAA"
     polyA_site      765
                     /gene="U2AF1L4"
                     /gene_synonym="U2AF1-RS3; U2AF1L3; U2AF1L3V1; U2AF1RS3;
                     U2af26"
                     /note="major polyA site"
ORIGIN
        1 agccagacct ggagggcttg ggtaaaaatg gctgaatatt tagcttcgat attcgggact
       61 gagaaggaca aggttaactg ctctttttac tttaagatcg gggtctgccg gcacggggac
      121 cggtgctccc ggcttcacaa caagccgaca ttcagccagg aggtgttcac agaactgcag
      181 gagaagtatg gggagattga agagatgaat gtgtgcgaca accttgggga ccacctcgtg
      241 ggcaacgtct atgtcaagtt ccggagggag gaggatggag agcgggccgt ggctgaactc
      301 agtaaccgct ggttcaacgg gcaggctgtg cacggtgagc tgtctcctgt cactgacttc
      361 cgggagtcat gctgtcgcca gtatgagatg ggggaatgta cccgaggtgg cttctgcaac
      421 ttcatgcatc tgcggcccat ttcccagaac ctccagaggc agctctatgg gcggggaccc
      481 aggcgcaggt cacccccgag gttccatact ggccaccatc cccgagagag gaaccatcgg
      541 tgttcccctg atcactggca tggccgcttc tgaggccctg gcccccttac ccttcacccc
      601 caacagggac agatgttcct ggcaggacct ctcctcaaag cccccttcac tctcctgccc
      661 catccttccc aggctcccgg gctccataat gtaatctgtt cagcatggag accttcttct
      721 accgcccctg tcttaataaa gctgcgtgtt tcacttcggc atcaa
//
LOCUS       NM_001040429            8300 bp    mRNA    linear   PRI 08-FEB-2023
DEFINITION  Homo sapiens protocadherin 17 (PCDH17), mRNA.
ACCESSION   NM_001040429
VERSION     NM_001040429.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8300)
  AUTHORS   Elsharkawi SM, Elkaffash D, Moez P, El-Etreby N, Sheta E and Taleb
            RSZ.
  TITLE     PCDH17 gene promoter methylation status in a cohort of Egyptian
            women with epithelial ovarian cancer
  JOURNAL   BMC Cancer 23 (1), 89 (2023)
   PUBMED   36698136
  REMARK    GeneRIF: PCDH17 gene promoter methylation status in a cohort of
            Egyptian women with epithelial ovarian cancer. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 8300)
  AUTHORS   El-Benhawy SA, Ebeid SA, Abd El Moneim NA, Arab ARR and Ramadan R.
  TITLE     Repression of protocadherin 17 is correlated with elevated
            angiogenesis and hypoxia markers in female patients with breast
            cancer
  JOURNAL   Cancer Biomark 31 (2), 139-148 (2021)
   PUBMED   33896826
  REMARK    GeneRIF: Repression of protocadherin 17 is correlated with elevated
            angiogenesis and hypoxia markers in female patients with breast
            cancer.
REFERENCE   3  (bases 1 to 8300)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 8300)
  AUTHORS   Xiang Y, Yang Y, Lin C, Wu J and Zhang X.
  TITLE     MiR-23a-3p promoted G1/S cell cycle transition by targeting
            protocadherin17 in hepatocellular carcinoma
  JOURNAL   J Physiol Biochem 76 (1), 123-134 (2020)
   PUBMED   31994011
  REMARK    GeneRIF: MiR-23a-3p promoted G1/S cell cycle transition by targeting
            protocadherin17 in hepatocellular carcinoma.
REFERENCE   5  (bases 1 to 8300)
  AUTHORS   Xu ZJ, Ma JC, Zhou JD, Wen XM, Yao DM, Zhang W, Ji RB, Wu DH, Tang
            LJ, Deng ZQ, Qian J and Lin J.
  TITLE     Reduced protocadherin17 expression in leukemia stem cells: the
            clinical and biological effect in acute myeloid leukemia
  JOURNAL   J Transl Med 17 (1), 102 (2019)
   PUBMED   30922328
  REMARK    GeneRIF: PCDH17 gene was silenced by DNA methylation in acute
            myeloid leukemia (AML). Low PCDH17 expression is associated with
            distinct clinical and biological features and improves risk
            stratification in patients with AML. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 8300)
  AUTHORS   Vanhalst K, Kools P, Staes K, van Roy F and Redies C.
  TITLE     delta-Protocadherins: a gene family expressed differentially in the
            mouse brain
  JOURNAL   Cell Mol Life Sci 62 (11), 1247-1259 (2005)
   PUBMED   15905963
REFERENCE   7  (bases 1 to 8300)
  AUTHORS   Suzuki ST.
  TITLE     Recent progress in protocadherin research
  JOURNAL   Exp Cell Res 261 (1), 13-18 (2000)
   PUBMED   11082270
  REMARK    Review article
REFERENCE   8  (bases 1 to 8300)
  AUTHORS   Nollet F, Kools P and van Roy F.
  TITLE     Phylogenetic analysis of the cadherin superfamily allows
            identification of six major subfamilies besides several solitary
            members
  JOURNAL   J Mol Biol 299 (3), 551-572 (2000)
   PUBMED   10835267
  REMARK    Review article
REFERENCE   9  (bases 1 to 8300)
  AUTHORS   Yagi T and Takeichi M.
  TITLE     Cadherin superfamily genes: functions, genomic organization, and
            neurologic diversity
  JOURNAL   Genes Dev 14 (10), 1169-1180 (2000)
   PUBMED   10817752
  REMARK    Review article
REFERENCE   10  (bases 1 to 8300)
  AUTHORS   Wu Q and Maniatis T.
  TITLE     Large exons encoding multiple ectodomains are a characteristic
            feature of protocadherin genes
  JOURNAL   Proc Natl Acad Sci U S A 97 (7), 3124-3129 (2000)
   PUBMED   10716726
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK289980.1, BC028165.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000377918.8/ ENSP00000367151.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL445288.9, BC028165.1 and
            AL445216.6.
            On Nov 23, 2018 this sequence version replaced NM_001040429.2.
            Summary: This gene belongs to the protocadherin gene family, a
            subfamily of the cadherin superfamily. The encoded protein contains
            six extracellular cadherin domains, a transmembrane domain, and a
            cytoplasmic tail differing from those of the classical cadherins.
            The encoded protein may play a role in the establishment and
            function of specific cell-cell connections in the brain. [provided
            by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8300
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q21.1"
     gene            1..8300
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /note="protocadherin 17"
                     /db_xref="GeneID:27253"
                     /db_xref="HGNC:HGNC:14267"
                     /db_xref="MIM:611760"
     misc_feature    690..692
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /note="upstream in-frame stop codon"
     CDS             804..4283
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /note="protocadherin 68"
                     /codon_start=1
                     /product="protocadherin-17 precursor"
                     /protein_id="NP_001035519.1"
                     /db_xref="CCDS:CCDS31986.1"
                     /db_xref="GeneID:27253"
                     /db_xref="HGNC:HGNC:14267"
                     /db_xref="MIM:611760"
                     /translation="MYLSICCCFLLWAPALTLKNLNYSVPEEQGAGTVIGNIGRDARLQ
                     PGLPPAERGGGGRSKSGSYRVLENSAPHLLDVDADSGLLYTKQRIDRESLCRHNAKCQL
                     SLEVFANDKEICMIKVEIQDINDNAPSFSSDQIEMDISENAAPGTRFPLTSAHDPDAGE
                     NGLRTYLLTRDDHGLFGLDVKSRGDGTKFPELVIQKALDREQQNHHTLVLTALDGGEPP
                     RSATVQINVKVIDSNDNSPVFEAPSYLVELPENAPLGTVVIDLNATDADEGPNGEVLYS
                     FSSYVPDRVRELFSIDPKTGLIRVKGNLDYEENGMLEIDVQARDLGPNPIPAHCKVTVK
                     LIDRNDNAPSIGFVSVRQGALSEAAPPGTVIALVRVTDRDSGKNGQLQCRVLGGGGTGG
                     GGGLGGPGGSVPFKLEENYDNFYTVVTDRPLDRETQDEYNVTIVARDGGSPPLNSTKSF
                     AIKILDENDNPPRFTKGLYVLQVHENNIPGEYLGSVLAQDPDLGQNGTVSYSILPSHIG
                     DVSIYTYVSVNPTNGAIYALRSFNFEQTKAFEFKVLAKDSGAPAHLESNATVRVTVLDV
                     NDNAPVIVLPTLQNDTAELQVPRNAGLGYLVSTVRALDSDFGESGRLTYEIVDGNDDHL
                     FEIDPSSGEIRTLHPFWEDVTPVVELVVKVTDHGKPTLSAVAKLIIRSVSGSLPEGVPR
                     VNGEQHHWDMSLPLIVTLSTISIILLAAMITIAVKCKRENKEIRTYNCRIAEYSHPQLG
                     GGKGKKKKINKNDIMLVQSEVEERNAMNVMNVVSSPSLATSPMYFDYQTRLPLSSPRSE
                     VMYLKPASNNLTVPQGHAGCHTSFTGQGTNASETPATRMSIIQTDNFPAEPNYMGSRQQ
                     FVQSSSTFKDPERASLRDSGHGDSDQADSDQDTNKGSCCDMSVREALKMKTTSTKSQPL
                     EQEPEECVNCTDECRVLGHSDRCWMPQFPAANQAENADYRTNLFVPTVEANVETETYET
                     VNPTGKKTFCTFGKDKREHTILIANVKPYLKAKRALSPLLQEVPSASSSPTKACIEPCT
                     STKGSLDGCEAKPGALAEASSQYLPTDSQYLSPSKQPRDPPFMASDQMARVFADVHSRA
                     SRDSSEMGAVLEQLDHPNRDLGRESVDAEEVVREIDKLLQDCRGNDPVAVRK"
     sig_peptide     804..854
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     855..4280
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /product="protocadherin-17"
     misc_feature    867..869
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O14917.2); glycosylation site"
     misc_feature    1359..1367
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /note="propagated from UniProtKB/Swiss-Prot (O14917.2);
                     Region: Cell attachment site. /evidence=ECO:0000255"
     misc_feature    1599..1601
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O14917.2); glycosylation site"
     misc_feature    2118..2120
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O14917.2); glycosylation site"
     misc_feature    2160..2162
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O14917.2); glycosylation site"
     misc_feature    2313..2315
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O14917.2); glycosylation site"
     misc_feature    2499..2501
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O14917.2); glycosylation site"
     misc_feature    2571..2573
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O14917.2); glycosylation site"
     misc_feature    2925..2987
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /note="propagated from UniProtKB/Swiss-Prot (O14917.2);
                     transmembrane region"
     misc_feature    3375..3530
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /note="propagated from UniProtKB/Swiss-Prot (O14917.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4125..4199
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /note="propagated from UniProtKB/Swiss-Prot (O14917.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      8280..8285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /note="hexamer: AATAAA"
     polyA_site      8300
                     /gene="PCDH17"
                     /gene_synonym="PCDH68; PCH68"
                     /note="major polyA site"
ORIGIN
        1 gcatttcctc ccctcccttt ggctgctcgg aaaggagaga gaggaaaaaa aaaatacgct
       61 tggctggtag atgcagtccg ccgccgccgc tgcctcagcc agcaatgcaa gattagatct
      121 ctaaatgcag caaaacactg cctgaaaaca gaccggcccg cgcagcaagc agacatttca
      181 cggtgcgctg gggaagcttc aaaatatatc tgtgactctg tcttcgttgc tcttcatccc
      241 catcaatttc atcacgggag gcgagcagca agtaagaatt tcactttcgg atctgcctag
      301 agacacacct ccctgctccc tcccccactc gatgtgaaga gtattccgga gtctccgggc
      361 gggagtagat ttgcagcacc ctagcgggag cgaggaaaac ctactgattc tttagctcat
      421 tatcatctct cccagacgag atttccttct tatcgcctgc ctcatcgctc aagtttgagc
      481 ctcccgaagt ccgggcggga gagacgaaac ccctggctca cccccagccg caggaagcca
      541 ccgccttgct ccaagcccct gcagctctgc tgcaccgcag cttctcaccc agtgcggatg
      601 ctgtagatca acaggttcag ggaacttgag cagaataagg agagaccacc gggtgccgca
      661 gctcgggtgc agagggaaaa aaggacccat agacttgtgg ctcgcgtcgc gcgcgcacgc
      721 tgcgccaggg ccccaggctg gcgcgcactc cctctctggc tcctccagtc cgattgctcc
      781 tgcccccacc ttacaggtct gggatgtacc tttccatctg ttgctgcttt cttctatggg
      841 cccctgccct cactctcaag aacctcaact actccgtgcc ggaggagcaa ggggccggca
      901 cggtgatcgg gaacatcggc agggatgctc gactgcagcc tgggcttccg cctgcagagc
      961 gcggcggcgg agggcgcagc aagtcgggta gctaccgggt gctggagaac tccgcaccgc
     1021 acctgctgga cgtggacgca gacagcgggc tcctctacac caagcagcgc atcgaccgcg
     1081 agtccctgtg ccgccacaat gccaagtgcc agctgtccct cgaggtgttc gccaacgaca
     1141 aggagatctg catgatcaag gtagagatcc aggacatcaa cgacaacgcg ccctccttct
     1201 cctcggacca gatcgaaatg gacatctcgg agaacgctgc tccgggcacc cgcttccccc
     1261 tcaccagcgc acatgacccc gacgccggcg agaatgggct ccgcacctac ctgctcacgc
     1321 gcgacgatca cggcctcttt ggactggacg ttaagtcccg cggcgacggc accaagttcc
     1381 cagaactggt catccagaag gctctggacc gcgagcaaca gaatcaccat acgctcgtgc
     1441 tgactgccct ggacggtggc gagcctccac gttccgccac cgtacagatc aacgtgaagg
     1501 tgattgactc caacgacaac agcccggtct tcgaggcgcc atcctacttg gtggaactgc
     1561 ccgagaacgc tccgctgggt acagtggtca tcgatctgaa cgccaccgac gccgatgaag
     1621 gtcccaatgg tgaagtgctc tactctttca gcagctacgt gcctgaccgc gtgcgggagc
     1681 tcttctccat cgaccccaag accggcctaa tccgtgtgaa gggcaatctg gactatgagg
     1741 aaaacgggat gctggagatt gacgtgcagg cccgagacct ggggcctaac cctatcccag
     1801 cccactgcaa agtcacggtc aagctcatcg accgcaacga caatgcgccg tccatcggtt
     1861 tcgtctccgt gcgccagggg gcgctgagcg aggccgcccc tcccggcacc gtcatcgccc
     1921 tggtgcgggt cactgaccgg gactctggca agaacggaca gctgcagtgt cgggtcctag
     1981 gcggaggagg gacgggcggc ggcgggggcc tgggcgggcc cgggggttcc gtccccttca
     2041 agcttgagga gaactacgac aacttctaca cggtggtgac tgaccgcccg ctggaccgcg
     2101 agacacaaga cgagtacaac gtgaccatcg tggcgcggga cgggggctct cctcccctca
     2161 actccaccaa gtcgttcgcg atcaagattc tagacgagaa cgacaacccg cctcggttca
     2221 ccaaagggct ctacgtgctt caggtgcacg agaacaacat cccgggagag tacctgggct
     2281 ctgtgctcgc ccaggatccc gacctgggcc agaacggcac cgtatcctac tctatcctgc
     2341 cctcgcacat cggcgacgtg tctatctaca cctatgtgtc tgtgaatccc acgaacgggg
     2401 ccatctacgc cctgcgctcc tttaacttcg agcagaccaa ggcttttgag ttcaaggtgc
     2461 ttgctaagga ctcgggggcg cccgcgcact tggagagcaa cgccacggtg agggtgacag
     2521 tgctagacgt gaatgacaac gcgccagtga tcgtgctccc cacgctgcag aacgacaccg
     2581 cggagctgca ggtgccgcgc aacgctggcc tgggctatct ggtgagcact gtgcgcgccc
     2641 tagacagcga cttcggcgag agcgggcgtc tcacctacga gatcgtggac ggcaacgacg
     2701 accacctgtt tgagatcgac ccgtccagcg gcgagatccg cacgctgcac cctttctggg
     2761 aggacgtgac gcccgtggtg gagctggtgg tgaaggtgac cgaccacggc aagcctaccc
     2821 tgtccgcagt ggccaagctc atcatccgct cggtgagcgg atcccttccc gagggggtac
     2881 cacgggtgaa tggcgagcag caccactggg acatgtcgct gccgctcatc gtgactctga
     2941 gcactatctc catcatcctc ctagcggcca tgatcaccat cgccgtcaag tgcaagcgcg
     3001 agaacaagga gatccgcact tacaactgcc gcatcgccga gtacagccac ccgcagctgg
     3061 gtgggggcaa gggcaagaag aagaagatca acaaaaatga tatcatgctg gtgcagagcg
     3121 aagtggagga gaggaacgcc atgaacgtca tgaacgtggt gagcagcccc tccctggcca
     3181 cctcccccat gtacttcgac taccagaccc gcctgcccct cagctcgccc cggtcggagg
     3241 tgatgtatct caaaccggcc tccaacaacc tgactgtccc tcaggggcac gcgggctgcc
     3301 acaccagctt caccggacaa gggactaatg caagcgagac ccctgccact cggatgtcca
     3361 taattcagac agacaatttt cccgcagagc ccaattacat gggcagcagg cagcagtttg
     3421 ttcaaagtag ctccacgttt aaggacccag aaagagccag cctgagagac agtgggcacg
     3481 gggacagtga tcaggctgac agtgaccaag acactaacaa aggctcctgc tgtgacatgt
     3541 ctgttaggga ggcactcaag atgaaaacta cttcaactaa aagccaacca cttgaacaag
     3601 aaccagaaga gtgtgttaat tgcacagatg aatgccgagt gcttggtcat tctgacaggt
     3661 gctggatgcc acagttccct gcagccaatc aggctgaaaa tgcagattac cgcacaaatc
     3721 tctttgtacc tacagttgaa gctaatgttg agactgagac ttacgaaact gtgaatccca
     3781 ctgggaaaaa gactttttgt acatttggaa aagacaagcg agagcacact attctcattg
     3841 ccaacgttaa accttattta aaagccaaac gtgccctgag ccctctcctc caagaggtcc
     3901 cctcagcatc aagcagccca accaaggcgt gcatcgagcc ttgcacctca acaaaaggct
     3961 ccctggatgg ctgtgaagca aaaccaggag ccctggctga agcaagcagt cagtacttgc
     4021 ccactgacag tcaatatctg tcacctagta agcaaccaag agaccctccc ttcatggctt
     4081 ccgatcagat ggcaagggtc tttgcagatg tgcattccag agccagccgg gattccagtg
     4141 agatgggtgc tgttcttgag cagcttgacc accccaacag ggatctgggc agagagtctg
     4201 tggatgcaga ggaagttgtg agagaaattg ataagctttt gcaagactgc cggggaaacg
     4261 accctgtggc tgtgagaaag tgaaaaaaga aaaaaaaaaa ggcattggca ttttcttgtc
     4321 tcttctgttg atttaaaaat gatccctcct ggtgataacc cattttacag ggatgaagaa
     4381 agaccaatgc tgctttaagg cttttagtga acatctgaag tgcccacaag tatgttcttt
     4441 ccactgctga tttctttttc agagataaca atggtttcgt tttgaccaaa cttgtattag
     4501 gacagaatta atgatgctta aagagaaaag aaaaaaagag agaagaaaaa ggagagatga
     4561 aaaaggagga tgaggagaag aattaccttt tgacaatctg ttaggaaggt atgcagtgtg
     4621 agaactgaag tatttctgat cactctcaga ctgtcctccg tgatttatgc tgacttaact
     4681 gtttacctat aaaccccata caaagcaggg tcataatttg tgatctgtgg tggatttcta
     4741 gcagtcatca caggcttcta ctgaaagtcc tgaaaagacc ttgcagtagt ccaagctaca
     4801 ccaaacatta acacatattt gtggtaaaca tttctgtata aagttacctg acacacatat
     4861 aaacacaagg aacattccat atcattagtc gaaaacaaaa acaaaaaaaa aacctttggt
     4921 catttgtaag acatctcatg tcatataaaa gttaaatgta aaaagataca gtccattttg
     4981 tcctgcacac acgtagacta attcacgtca ttaaagaaga agaaaactta aagatttaaa
     5041 atgcctattt agcattttag tgtccaacaa agatttaaac aatgatgaat atgttttaaa
     5101 tttgacatag aaaagttcta aaaaatagtt accattgagt ggtaagattc agagaaaatt
     5161 aacttgatta atatgtttta ttcatttgtg gacactaaaa tagctcagga aagtgaaaat
     5221 gtcttagaca tacgcaagtc acatgaccat ttaaatgtgc aaatgtaaga agattcaatg
     5281 tgtttacatc aaatgacata ttttattgat ttattgcaga ttcagtgcat atgagccaaa
     5341 ttgttgagtg tgtaagagct atattgtgta ttttattaaa ttaatatata gttgtgttgc
     5401 aaaaatattt gggcttatat tgtaaatggc aagtgttgcc ttggtagctg tcgaactcta
     5461 tgagttttgt tttttcctgc ttccttttcc ccatggagtg tgggaagcag tgcctcagag
     5521 caaagtctct tgtttaatgt atagtctacc aagtactaca gtacataatc tgttcaaaat
     5581 gtgtttgagt gagctgatgg agctaactga aaggtcaaaa attacatcca tcagtcatgg
     5641 ttatgtgcaa gtccttgtag aagcttttat taaagtcatg ctaaatcaca agaattgaca
     5701 tttgtaccaa tatctgaaac ttcttcatgt tttttcaata acatacagct tctgcctgtg
     5761 tagatattat gccatcagtt ggttctcaaa agtattttaa gtgcttcaga tgtgtgttcc
     5821 cattatattt tgaaaacatg aaaaatgctt taatgcatgt atgtaccagc agtggttact
     5881 tgcattgtgt agtgtttttc aagaggtctg ggtcttaaca aaatgttttc ctttatctca
     5941 gtgctcttct gcctcttttt gttggtgtcc tttgagaaca atacaccttc tattccttca
     6001 tttggttaca cctttccttg tgacatttag cgagtttcaa acttacttcc atatgaggct
     6061 aagaaacctc aaatttcagg aattgggaaa aataaaatta gcacttgcag aagtagcagc
     6121 agatgggaaa atgccttgat tgacattttc tttcagcatt taaaattttt ggcattttac
     6181 agcttcatga caaacagttt tgtgcccata ccttagaaaa tgtggtgctg agttaaataa
     6241 aggctgtttg agcactggag cagaaaaatg cattatttgc aaactggtgg ataattttgt
     6301 gccttctctt ctggccacca agccagtgta gaaacagcaa aaatgtcata aaaattctta
     6361 tatttaaaac aaaaacaaaa gcaaaaacaa acattgaatt aaattaagtt ttgtaatttt
     6421 aaactttaaa aacttctact gaaaatattt ccgccaaatg ccatcaatat tttagactgt
     6481 acctcgtttg caaaactgct ttgagaggga agagtggaca actcccatca gccttattct
     6541 cttgagaact atattttggt tcctagtaac agcctttcca aagctctact cttggttttt
     6601 attactcata aatgtttaaa ttagaaaaga agggaccttg tacatgtgaa acctaattga
     6661 ctctctatat tttggacaat ttatgtatct gaaatgtgtt gtctctgtta tatgatgtta
     6721 tttttgccag gagactacag gttgatttag cttgatagct gaaatttgat ggaaaactga
     6781 tttccattta gtcttaccaa gtgttgcttc tctcttacta gacagatatc cacttagtaa
     6841 aatctaaagc agtatgtaaa tgaaaccagc aaagagagta gggtttattt tataaacatt
     6901 cttaatgcta agtaaccagt tgttcaattt attatatgtg tctgaggaca ttaaaacacc
     6961 ataaggttgt aataattggt tgtgccaatg tgtgagggat ttacctttag gctctctgtc
     7021 accagtgatt tactagtgtt agctgtttaa cacattatct gtatttagta gtgattattt
     7081 atttacaagt tggtggtaat tcagcagtca ggactctaag cttttatagt tgaattgagg
     7141 aaatctcgct tttattcatt tagctggcaa ctgcctttat tgcagacctc tggtgcttgg
     7201 ctttcaagga agcctatgag atgccaaaat cacaccttta gagagcacct tgctctaata
     7261 ggtgatgcat gagcaaacag tgagatttga aggggtttta acataattta gaatgtgaaa
     7321 aaaatatcaa ttcatatctt tcaagtacta acccctcaaa aaagcccaca catacaaaat
     7381 atgtgatgtg ataccacttt gtcttttagg tctttaagta actgaagtta agcacagaaa
     7441 aaaaaatcac ttcatggaaa tttcagtaag aaacccaaac ttctaaaaat tgcttgcaga
     7501 tgagctaaaa aaaaaaaaaa aaaaaaaaag caacaaaata accttttcat cagagttaaa
     7561 agtagtgaga atctgttagt tatacgtata ccaaagtaaa cattaaagag acatatcatg
     7621 caatttcaaa gaattctttc atgctatttc ttaacctgac atttctaact ttattgcagg
     7681 caatatacaa agattggctc actactccat aggttaattg aattcctggt tgagaaacta
     7741 acttgttttg ttttccaaaa ttagctgaaa tcttgtaaaa catgacttcc ctttaaagga
     7801 tctagatatt gttcaattta aaatatggca ccataaaaaa gtcatgtagt aatagagcat
     7861 atgctttttt agaaccaggt taaaagctgt ttgttatcta atagagtaaa agttactgag
     7921 gtcaacagat agacaggtct ggcataatat atgcccagtc ataatagtct aattatattc
     7981 ttttgacaac agacagcatt catcagagca ctaattcgaa tgagagtttt ggctatcaag
     8041 atgtgttgat tctaaatatt attgaatgag acctgattaa agtctgactt tcctggcccc
     8101 agtgttttgc aggttggcta tttccattat cagcccatca ctccataaag ttcttagctg
     8161 caccaagtga ttggtgaaca aggacaacaa caaaagcagc atacattgta tggatttatc
     8221 tcaacgctat tgtttaatgg ctgtgtttaa tgtgatctat ctggaaaatg aggactccga
     8281 ataaaaagct attactaata
//
LOCUS       NM_001040431             780 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens cytochrome c oxidase assembly factor 3 (COA3), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_001040431
VERSION     NM_001040431.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 780)
  AUTHORS   Neira JL, Martinez-Rodriguez S, Hernandez-Cifre JG, Camara-Artigas
            A, Clemente P, Peralta S, Fernandez-Moreno MA, Garesse R, Garcia de
            la Torre J and Rizzuti B.
  TITLE     Human COA3 Is an Oligomeric Highly Flexible Protein in Solution
  JOURNAL   Biochemistry 55 (45), 6209-6220 (2016)
   PUBMED   27791355
  REMARK    GeneRIF: Data suggest that COX assembly factor 3 (hCOA3) is a
            disordered protein and that the flexibility of hCOA3 is crucial for
            its interaction with other proteins to favor mitochondrial protein
            translocation and assembly of proteins involved in the respiratory
            chain.
REFERENCE   2  (bases 1 to 780)
  AUTHORS   Ban-Ishihara R, Tomohiro-Takamiya S, Tani M, Baudier J, Ishihara N
            and Kuge O.
  TITLE     COX assembly factor ccdc56 regulates mitochondrial morphology by
            affecting mitochondrial recruitment of Drp1
  JOURNAL   FEBS Lett 589 (20 Pt B), 3126-3132 (2015)
   PUBMED   26358295
  REMARK    GeneRIF: Data show that mitochondrial protein ccdc56/MITRAC12/COA3
            positively regulates mitochondrial fission by recruiting the fission
            factor Drp1.
REFERENCE   3  (bases 1 to 780)
  AUTHORS   Dennerlein S, Oeljeklaus S, Jans D, Hellwig C, Bareth B, Jakobs S,
            Deckers M, Warscheid B and Rehling P.
  TITLE     MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint
            during Cytochrome c Oxidase Assembly
  JOURNAL   Cell Rep 12 (10), 1644-1655 (2015)
   PUBMED   26321642
REFERENCE   4  (bases 1 to 780)
  AUTHORS   Ostergaard E, Weraarpachai W, Ravn K, Born AP, Jonson L, Duno M,
            Wibrand F, Shoubridge EA and Vissing J.
  TITLE     Mutations in COA3 cause isolated complex IV deficiency associated
            with neuropathy, exercise intolerance, obesity, and short stature
  JOURNAL   J Med Genet 52 (3), 203-207 (2015)
   PUBMED   25604084
  REMARK    GeneRIF: COX14 was undetectable in COA3 subject fibroblasts, and
            that COA3 was undetectable in fibroblasts from a COX14 subject,
            demonstrating the interdependence of these two COX assembly factors
REFERENCE   5  (bases 1 to 780)
  AUTHORS   Clemente P, Peralta S, Cruz-Bermudez A, Echevarria L, Fontanesi F,
            Barrientos A, Fernandez-Moreno MA and Garesse R.
  TITLE     hCOA3 stabilizes cytochrome c oxidase 1 (COX1) and promotes
            cytochrome c oxidase assembly in human mitochondria
  JOURNAL   J Biol Chem 288 (12), 8321-8331 (2013)
   PUBMED   23362268
  REMARK    GeneRIF: hCOA3 stabilizes COX1 co-translationally and promotes its
            assembly with COX partner subunits.
REFERENCE   6  (bases 1 to 780)
  AUTHORS   Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi
            I, Sasarman F, Weraarpachai W, Shoubridge EA, Warscheid B and
            Rehling P.
  TITLE     MITRAC links mitochondrial protein translocation to
            respiratory-chain assembly and translational regulation
  JOURNAL   Cell 151 (7), 1528-1541 (2012)
   PUBMED   23260140
  REMARK    GeneRIF: Study comprehensively identified mammalian cytochrome c
            oxidase assembly factors. These analyses led to the discoveryof
            MITRAC12, which defines the MITRAC (mitochondrial translation
            regulation assembly intermediate of cytochrome c oxidase)complexes.
REFERENCE   7  (bases 1 to 780)
  AUTHORS   Peralta S, Clemente P, Sanchez-Martinez A, Calleja M,
            Hernandez-Sierra R, Matsushima Y, Adan C, Ugalde C, Fernandez-Moreno
            MA, Kaguni LS and Garesse R.
  TITLE     Coiled coil domain-containing protein 56 (CCDC56) is a novel
            mitochondrial protein essential for cytochrome c oxidase function
  JOURNAL   J Biol Chem 287 (29), 24174-24185 (2012)
   PUBMED   22610097
REFERENCE   8  (bases 1 to 780)
  AUTHORS   Szklarczyk R, Wanschers BF, Cuypers TD, Esseling JJ, Riemersma M,
            van den Brand MA, Gloerich J, Lasonder E, van den Heuvel LP,
            Nijtmans LG and Huynen MA.
  TITLE     Iterative orthology prediction uncovers new mitochondrial proteins
            and identifies C12orf62 as the human ortholog of COX14, a protein
            involved in the assembly of cytochrome c oxidase
  JOURNAL   Genome Biol 13 (2), R12 (2012)
   PUBMED   22356826
  REMARK    GeneRIF: Human ortholog of fungal COA3 (Cytochrome oxidase assembly)
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 780)
  AUTHORS   Rommens JM, Durocher F, McArthur J, Tonin P, LeBlanc JF, Allen T,
            Samson C, Ferri L, Narod S, Morgan K et al.
  TITLE     Generation of a transcription map at the HSD17B locus centromeric to
            BRCA1 at 17q21
  JOURNAL   Genomics 28 (3), 530-542 (1995)
   PUBMED   7490091
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK225611.1, SRR5189661.151737.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000328434.8/ ENSP00000354762.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL524532.3, BC002698.2 and
            AC016889.28.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001040431.2.
            Summary: This gene encodes a member of the cytochrome c oxidase
            assembly factor family. Studies of a related gene in fly suggest
            that the encoded protein is localized to mitochondria and is
            essential for cytochrome c oxidase function. [provided by RefSeq,
            Nov 2012].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..780
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..780
                     /gene="COA3"
                     /gene_synonym="CCDC56; COX25; hCOA3; HSPC009; MC4DN14;
                     MITRAC12"
                     /note="cytochrome c oxidase assembly factor 3"
                     /db_xref="GeneID:28958"
                     /db_xref="HGNC:HGNC:24990"
                     /db_xref="MIM:614775"
     CDS             24..344
                     /gene="COA3"
                     /gene_synonym="CCDC56; COX25; hCOA3; HSPC009; MC4DN14;
                     MITRAC12"
                     /note="coiled-coil domain-containing protein 56; cytochrome
                     c oxidase assembly protein 3 homolog, mitochondrial;
                     mitochondrial translation regulation assembly intermediate
                     of cytochrome c oxidase protein of 12 kDa"
                     /codon_start=1
                     /product="cytochrome c oxidase assembly factor 3 homolog,
                     mitochondrial"
                     /protein_id="NP_001035521.1"
                     /db_xref="CCDS:CCDS32660.1"
                     /db_xref="GeneID:28958"
                     /db_xref="HGNC:HGNC:24990"
                     /db_xref="MIM:614775"
                     /translation="MASSGAGDPLDSKRGEAPFAQRIDPTREKLTPEQLHSMRQAELAQ
                     WQKVLPRRRTRNIVTGLGIGALVLAIYGYTFYSISQERFLDELEDEAKAARARALARAS
                     GS"
     misc_feature    24..125
                     /gene="COA3"
                     /gene_synonym="CCDC56; COX25; hCOA3; HSPC009; MC4DN14;
                     MITRAC12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2R0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    27..29
                     /gene="COA3"
                     /gene_synonym="CCDC56; COX25; hCOA3; HSPC009; MC4DN14;
                     MITRAC12"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2R0.1); acetylation site"
     misc_feature    195..257
                     /gene="COA3"
                     /gene_synonym="CCDC56; COX25; hCOA3; HSPC009; MC4DN14;
                     MITRAC12"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2R0.1);
                     transmembrane region"
     regulatory      748..753
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COA3"
                     /gene_synonym="CCDC56; COX25; hCOA3; HSPC009; MC4DN14;
                     MITRAC12"
                     /note="hexamer: AATAAA"
     polyA_site      771
                     /gene="COA3"
                     /gene_synonym="CCDC56; COX25; hCOA3; HSPC009; MC4DN14;
                     MITRAC12"
                     /note="major polyA site"
ORIGIN
        1 accgcgaagg gaggagtggc aacatggcgt cttcgggagc tggtgaccct ctggattcta
       61 agcgtggaga ggccccgttc gctcagcgta tcgacccgac tcgggagaag ctgacacccg
      121 agcaactgca ttccatgcgg caggcggagc ttgcccagtg gcagaaggtc ctaccacggc
      181 ggcgaacccg gaacatcgtg accggcctag gcatcggggc cctggtgttg gctatttatg
      241 gttacacctt ctactcgatt tcccaggagc gtttcctaga tgagctagaa gacgaggcca
      301 aagctgcccg agcccgagct ctggcaaggg cgtcagggtc ctaatctgga tgggtattga
      361 tcatgtccaa cctgctggag ccccttcaca tggtggatga tgccccatga ccctgtagaa
      421 attgaatcct gctcacaaca ttgttggcct tcttactaac cttggaccgt gattgagccc
      481 aagaaaccag ggacttacgc atttggccaa tgtcaaaaga acagaacttt gcccactgca
      541 cacttgctgt gtacaatgac tgagcccttt cttgtagttt gtttccttgt ttgagaggtg
      601 tgcatgcgac cgtggctttt cccaaagttt ctgactttgt ggtttacccc cttcaccttc
      661 cagggacgca gttgttacga ggttagacgt ggcagctctg tgcagtgttt gagcctacag
      721 tgggatacat agggtcaaat tgagaataat aaactgagtc attctcctgg agtcaagtga
//
LOCUS       NM_001040432            3357 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger CW-type and PWWP domain containing 2
            (ZCWPW2), transcript variant 1, mRNA.
ACCESSION   NM_001040432
VERSION     NM_001040432.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3357)
  AUTHORS   Cavassim MIA, Baker Z, Hoge C, Schierup MH, Schumer M and Przeworski
            M.
  TITLE     PRDM9 losses in vertebrates are coupled to those of paralogs ZCWPW1
            and ZCWPW2
  JOURNAL   Proc Natl Acad Sci U S A 119 (9) (2022)
   PUBMED   35217607
  REMARK    GeneRIF: PRDM9 losses in vertebrates are coupled to those of
            paralogs ZCWPW1 and ZCWPW2.
REFERENCE   2  (bases 1 to 3357)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3357)
  AUTHORS   Liu Y, Tempel W, Zhang Q, Liang X, Loppnau P, Qin S and Min J.
  TITLE     Family-wide Characterization of Histone Binding Abilities of Human
            CW Domain-containing Proteins
  JOURNAL   J Biol Chem 291 (17), 9000-9013 (2016)
   PUBMED   26933034
REFERENCE   4  (bases 1 to 3357)
  AUTHORS   Perry J and Zhao Y.
  TITLE     The CW domain, a structural module shared amongst vertebrates,
            vertebrate-infecting parasites and higher plants
  JOURNAL   Trends Biochem Sci 28 (11), 576-580 (2003)
   PUBMED   14607086
  REMARK    Review article
REFERENCE   5  (bases 1 to 3357)
  AUTHORS   Kaneko M, Kato Y, Horiuchi H and Osawa M.
  TITLE     Molecular characterization of a human monoclonal antibody to B
            antigen in ABO blood type
  JOURNAL   Immunol Lett 86 (1), 45-51 (2003)
   PUBMED   12600744
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC094696.1, SRR1660807.215908.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000383768.7/ ENSP00000373278.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC098616.2, DB451817.1, BC094696.1, BU508346.1, AC093142.2 and
            DB306158.1.
            On Nov 23, 2018 this sequence version replaced NM_001040432.3.
            Transcript Variant: This variant (1). Variants 1 and 2 encode the
            same isoform (a).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3357
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.1"
     gene            1..3357
                     /gene="ZCWPW2"
                     /gene_synonym="ZCW2"
                     /note="zinc finger CW-type and PWWP domain containing 2"
                     /db_xref="GeneID:152098"
                     /db_xref="HGNC:HGNC:23574"
     misc_feature    578..580
                     /gene="ZCWPW2"
                     /gene_synonym="ZCW2"
                     /note="upstream in-frame stop codon"
     CDS             617..1687
                     /gene="ZCWPW2"
                     /gene_synonym="ZCW2"
                     /note="isoform a is encoded by transcript variant 1; zinc
                     finger CW-type PWWP domain protein 2; zinc finger, CW type
                     with PWWP domain 2; zinc finger CW-type and PWWP domain 2"
                     /codon_start=1
                     /product="zinc finger CW-type PWWP domain protein 2 isoform
                     a"
                     /protein_id="NP_001035522.1"
                     /db_xref="CCDS:CCDS33723.1"
                     /db_xref="GeneID:152098"
                     /db_xref="HGNC:HGNC:23574"
                     /translation="MDKEKLDVKIEYCNYAMDSSVENMYVNKVWVQCENENCLKWRLLS
                     SEDSAKVDHDEPWYCFMNTDSRYNNCSISEEDFPEESQLHQCGFKIVYSQLPLGSLVLV
                     KLQNWPSWPGILCPDRFKGKYVTYDPDGNVEEYHIEFLGDPHSRSWIKATFVGHYSITL
                     KPEKCKNKKKWYKSALQEACLLYGYSHEQRLEMCCLSKLQDKSETHDKVAALVKKRKQT
                     SKNNIEKKKPKFRKRKRKAILKCSFENVYSDDALSKENRVVCETEVLLKELEQMLQQAL
                     QPTATPDESEEGHGEEINMGEKLSKCSPEAPAGSLFENHYEEDYLVIDGIKLKAGECIE
                     DITNKFKEIDALMSEF"
     misc_feature    1451..1537
                     /gene="ZCWPW2"
                     /gene_synonym="ZCW2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q504Y3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2118..2123
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZCWPW2"
                     /gene_synonym="ZCW2"
                     /note="hexamer: AATAAA"
     polyA_site      2141
                     /gene="ZCWPW2"
                     /gene_synonym="ZCW2"
                     /note="major polyA site"
     regulatory      3124..3129
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZCWPW2"
                     /gene_synonym="ZCW2"
                     /note="hexamer: AATAAA"
     polyA_site      3148
                     /gene="ZCWPW2"
                     /gene_synonym="ZCW2"
                     /note="major polyA site"
     regulatory      3238..3243
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZCWPW2"
                     /gene_synonym="ZCW2"
                     /note="hexamer: GATAAA"
     polyA_site      3266
                     /gene="ZCWPW2"
                     /gene_synonym="ZCW2"
                     /note="major polyA site"
     regulatory      3334..3339
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZCWPW2"
                     /gene_synonym="ZCW2"
                     /note="hexamer: TATAAA"
     polyA_site      3357
                     /gene="ZCWPW2"
                     /gene_synonym="ZCW2"
                     /note="major polyA site"
ORIGIN
        1 gaagacaccg ccgcttccac agcgaaggga gctgctccgg gcacgtcgcg gagggagtcc
       61 catttcttct gactcggcag gagcccggga cgttctggaa ggagggacga gccgaggcag
      121 gaggggccgg gccgacgcga gagaaggccc gttacccagc aatacgcgcg cgagacccag
      181 gcccgccgtc gggaccagca cgggccggag ggaggggaag cactccggaa agtgattgga
      241 agtgtggatg agctctcagc cggaaaaggg gctgccgctg tccgcgggct cggcgccagg
      301 gacgcgcgag gaaaccggaa gtcaggcccg agggagctgg gagggcgtta gcgaagccag
      361 gttcggtcgt gggggtgggg aagtgcagga gtggcgcgcg gcgtactaca tgtcccgtga
      421 gcctccgcgg cgggacgggg cggggccgcg ggacgccagg aggcggaggc ggagtggagt
      481 tagattcatc ccagtagaac gcctgcctct ttagtgacta cagacctcac ttcccttctc
      541 tggagttttg gagtctattt tcttcatgga attttgctag gaacaaaaga aaagtctaac
      601 tccattaaat gccttaatgg ataaagaaaa attggatgtt aagattgaat attgtaacta
      661 tgcaatggat tcctcagtgg aaaacatgta tgtaaacaaa gtgtgggttc aatgtgagaa
      721 tgaaaattgt ttgaaatgga gattgttatc aagtgaggat tcagccaagg ttgatcatga
      781 tgaaccatgg tactgcttca tgaacactga ttcaagatat aataactgct caatttctga
      841 agaagacttc cctgaagagt ctcagcttca tcagtgtgga tttaagattg tctattcaca
      901 gctccctctt ggaagcctgg ttttggtaaa attacagaat tggccaagtt ggccaggaat
      961 actttgccct gaccgtttta aagggaaata tgtaacttat gacccggatg gaaatgttga
     1021 agagtatcac atagaattcc tgggcgatcc ccattcaaga tcatggataa aggcaacatt
     1081 cgttggacat tatagtatca cattaaagcc agaaaagtgt aagaataaaa agaagtggta
     1141 taaaagtgca ctacaagaag catgtctact ctatggatat tctcatgagc aaagactgga
     1201 aatgtgctgc ctatcaaaac tacaagataa atccgaaaca catgacaaag ttgctgcact
     1261 ggtcaagaaa aggaagcaga cttctaaaaa taatattgaa aagaagaagc ccaaatttag
     1321 aaaaaggaaa aggaaagcaa ttttaaaatg ctcttttgaa aatgtttatt ctgatgatgc
     1381 cttatcaaag gagaacaggg ttgtctgtga gacggaagtt ttactaaaag agctggagca
     1441 aatgctgcag caagcactgc aacccacagc cacacctgat gaatcagaag aaggacatgg
     1501 agaggaaata aatatgggag aaaagttatc taaatgcagc ccagaagctc ctgcaggcag
     1561 tctgtttgaa aaccactatg aagaggacta tcttgtaatt gatgggataa aattaaaagc
     1621 tggagaatgt attgaggata taactaataa atttaaagaa atagatgctt tgatgtctga
     1681 gttttagaac attatacatt tttcaaatta attataaaaa tattggcatc tttatattta
     1741 tccaaagtta aaactttaaa aatgtttagt gaaataggta taaattatac caaagtttat
     1801 atttgcggta actttctact tcatattttg agaatggcca tgatttttag agccagtcaa
     1861 atggtattta agttagtgtt aaaaatttag aattaaaaaa ccctgatatt tgtatttata
     1921 tatttcttgt ttgccttaat ttttaaatgg tttgtgaaat ttgcctaaca aacatatgtt
     1981 ttacaatgat tgtttaggcc ctttgttcaa aaatggataa cttaaaatgg ctggccaagc
     2041 tattataatt ctcagaggta attcaaatct aataaactta gagaatgtat atttgcagtg
     2101 gaatcaaact attacaaaat aaaaggaaat aattttttaa ataattgttt aatagagttg
     2161 aaacttttcc taaaaagcaa aatttcactt gctacttcta ctggaatcag ttatttcaac
     2221 catggtaccc aaaactgact gcttaataga gtctctggga gattttggaa gatcaaaatc
     2281 ctggaccctt ccctgctgaa tcagtgtctt tggaggtatc atcaggaaga tggaaaaatg
     2341 taatttaaag tgtatagaga gaagttaaac atattgatta taagaaatct aacaatatag
     2401 aaagtaaaaa ctcatcattt ttcagggatt ctcatgaaca gttttagtag atatccttct
     2461 agatatgtgt gggcattcac acctatcttt agttcctgct ctatctcttt ctggtggtac
     2521 ggggtgggga aaagggcatt ccaagcacat aaaaaccaaa gcttgaggag agaagaagtg
     2581 cacgagagca tcaccacagc ggtgaatttt attgtgagtt gcctcatatt gctttaacaa
     2641 ggaggcagca catgtctaga tattaaaaac aaataagaca ccaaacaacc aacgtgtcac
     2701 tcattgagtg ggttgcttct tttaagtatt tttagattct atgataatta cgtagagtgg
     2761 agagtggaga tagactcaca acggtgaaat atcttatttg tcaaagtaaa gtatgtatgt
     2821 atttctgtct tccttgtttt cctcatgtat tccttagcat tctgatattg tgtcatagga
     2881 tgttgagttg taaagcctat ctgggttcat attttacata ctagcttgtc ttaagtcata
     2941 taaccagtaa atagaaggcc tggaagttga gtacatctct gtcaggttcc agatcccatg
     3001 ccattgatta tcatctataa tgtcttgatg aagcttttaa ctagctgggt ggtggaatga
     3061 taatctagtt tcctcatatg taaaatgggg atggaactat gcaaaccaag cactgttgtg
     3121 aggaataaat gagatatttt ttgtgaaagt ggtttgtaaa tcaatttgat cttctgttta
     3181 ctctttgcaa agagaaccaa gtatgtgttt aaatatattg caattaataa ttactgagat
     3241 aaaatgtaac tatacatttg aaatgatcag ttttctttct gttatatcat ttaatctact
     3301 actcatcaat atcagagttc tttctttctc atttataaaa ttaatctttg gaaacca
//
LOCUS       NM_001040433             456 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens serine peptidase inhibitor Kazal type 9 (SPINK9), mRNA.
ACCESSION   NM_001040433
VERSION     NM_001040433.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 456)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 456)
  AUTHORS   Sperrhacke M, Fischer J, Wu Z, Klunder S, Sedlacek R, Schroeder JM,
            Meyer-Hoffert U and Reiss K.
  TITLE     SPINK9 stimulates metalloprotease/EGFR-dependent keratinocyte
            migration via purinergic receptor activation
  JOURNAL   J Invest Dermatol 134 (6), 1645-1654 (2014)
   PUBMED   24441102
  REMARK    GeneRIF: SPINK9 has a role in stimulating
            metalloprotease/EGFR-dependent keratinocyte migration by purinergic
            receptor pathway activation
REFERENCE   3  (bases 1 to 456)
  AUTHORS   Brannstrom K, Ohman A, von Pawel Rammingen U, Olofsson A and
            Brattsand M.
  TITLE     Characterization of SPINK9, a KLK5-specific inhibitor expressed in
            palmo-plantar epidermis
  JOURNAL   Biol Chem 393 (5), 369-377 (2012)
   PUBMED   22505519
  REMARK    GeneRIF: the inhibition and binding of different SPINK9 variants
            towards KLK5, KLK7, KLK8 and KLK14
REFERENCE   4  (bases 1 to 456)
  AUTHORS   Reiss K, Meyer-Hoffert U, Fischer J, Sperrhacke M, Wu Z, Dimitrieva
            O, Krenek P, Suchanova S, Buryova H, Brauer R and Sedlacek R.
  TITLE     Expression and regulation of murine SPINK12, a potential orthologue
            of human LEKTI2
  JOURNAL   Exp Dermatol 20 (11), 905-910 (2011)
   PUBMED   21899598
  REMARK    GeneRIF: mSPINK12 shows an inhibitory activity against murine
            keratinocyte-derived trypsin-like proteolytic activity, and thus,
            appears orthologous to human LEKTI2 and may play an role in the
            regulation of epithelial cell functions.
REFERENCE   5  (bases 1 to 456)
  AUTHORS   Brattsand M, Stefansson K, Hubiche T, Nilsson SK and Egelrud T.
  TITLE     SPINK9: a selective, skin-specific Kazal-type serine protease
            inhibitor
  JOURNAL   J Invest Dermatol 129 (7), 1656-1665 (2009)
   PUBMED   19194479
  REMARK    GeneRIF: possible role for SPINK9 in the site-specific epidermal
            differentiation of palms and soles
REFERENCE   6  (bases 1 to 456)
  AUTHORS   Meyer-Hoffert U, Wu Z and Schroder JM.
  TITLE     Identification of lympho-epithelial Kazal-type inhibitor 2 in human
            skin as a kallikrein-related peptidase 5-specific protease inhibitor
  JOURNAL   PLoS One 4 (2), e4372 (2009)
   PUBMED   19190773
  REMARK    GeneRIF: A new KLK5-inhibiting peptide encoded by a member of the
            Spink family, designated as Spink9 located on chromosome 5p33.1, was
            identified.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY396740.1, BC137530.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03465418
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000377906.2/ ENSP00000367139.1
            RefSeq Select criteria      :: based on computational evidence
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY396740.1 and AC091948.3.
            On Nov 22, 2018 this sequence version replaced NM_001040433.1.
            Summary: The protein encoded by this gene is a Kazal-type serine
            protease inhibitor that appears to specifically target
            kallikrein-related peptidase 5 (KLK5) in the palmo-plantar
            epidermis. KLK5 is an important initiator of skin desquamation, so
            the encoded protease inhibitor may regulate skin differentiation in
            the palms of hands and soles of feet. This cationic protein has
            also been shown to promote keratinocyte migration by activation of
            the epidermal growth factor receptor (EGFR). [provided by RefSeq,
            Dec 2015].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..456
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..456
                     /gene="SPINK9"
                     /gene_synonym="LEKTI2"
                     /note="serine peptidase inhibitor Kazal type 9"
                     /db_xref="GeneID:643394"
                     /db_xref="HGNC:HGNC:32951"
                     /db_xref="MIM:613511"
     CDS             56..316
                     /gene="SPINK9"
                     /gene_synonym="LEKTI2"
                     /note="serine protease inhibitor Kazal-type 9;
                     lymphoepithelial Kazal-type-related inhibitor 2"
                     /codon_start=1
                     /product="serine protease inhibitor Kazal-type 9 precursor"
                     /protein_id="NP_001035523.1"
                     /db_xref="CCDS:CCDS34269.1"
                     /db_xref="GeneID:643394"
                     /db_xref="HGNC:HGNC:32951"
                     /db_xref="MIM:613511"
                     /translation="MRATAIVLLLALTLATMFSIECAKQTKQMVDCSHYKKLPPGQQRF
                     CHHMYDPICGSDGKTYKNDCFFCSKVKKTDGTLKFVHFGKC"
     sig_peptide     56..112
                     /gene="SPINK9"
                     /gene_synonym="LEKTI2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     113..313
                     /gene="SPINK9"
                     /gene_synonym="LEKTI2"
                     /product="Serine protease inhibitor Kazal-type 9.
                     /id=PRO_0000333808"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5DT21.1)"
     misc_feature    197..202
                     /gene="SPINK9"
                     /gene_synonym="LEKTI2"
                     /note="Reactive bond.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00798; propagated
                     from UniProtKB/Swiss-Prot (Q5DT21.1); other site"
     regulatory      435..440
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPINK9"
                     /gene_synonym="LEKTI2"
                     /note="hexamer: AATAAA"
     polyA_site      456
                     /gene="SPINK9"
                     /gene_synonym="LEKTI2"
                     /note="major polyA site"
ORIGIN
        1 ggacaccagg tcacttcttt tccctacatc tgactgcctt ggccacttca gtactatgag
       61 agcaacagcc atagtcctac tcttggctct gacacttgca accatgttca gtatagaatg
      121 tgccaaacag acgaaacaga tggttgactg cagtcattat aaaaagttac caccaggaca
      181 acagagattt tgtcatcata tgtatgatcc aatttgtgga tctgatggca aaacttataa
      241 aaatgattgc ttcttctgtt ctaaagttaa gaaaactgac ggcacactta aatttgtaca
      301 ttttggaaaa tgttaaatct atcttgtgag tccaaaatat cttttaatgc atctattcac
      361 aagagtcaca tttctgttcc catattatct atgccacatt gcctactcat caccatatgt
      421 agatttcttt gtagaataaa gcagatataa gggaaa
//
LOCUS       NM_001040436            2117 bp    mRNA    linear   PRI 02-MAY-2023
DEFINITION  Homo sapiens tyrosyl-tRNA synthetase 2 (YARS2), mRNA; nuclear gene
            for mitochondrial product.
ACCESSION   NM_001040436
VERSION     NM_001040436.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2117)
  AUTHORS   Chen JR, Chen C, Chen J, Ji Y, Lian Y, Zhang J, Yu J, Li XY, Qu J
            and Guan MX.
  TITLE     Nuclear modifier YARS2 allele correction restored retinal ganglion
            cells-specific deficiencies in Leber's hereditary optic neuropathy
  JOURNAL   Hum Mol Genet 32 (9), 1539-1551 (2023)
   PUBMED   36611011
  REMARK    GeneRIF: Nuclear modifier YARS2 allele correction restored retinal
            ganglion cells-specific deficiencies in Leber's hereditary optic
            neuropathy.
REFERENCE   2  (bases 1 to 2117)
  AUTHORS   Fang Q, Lin J, Gao L, Pan R and Zheng X.
  TITLE     Targeting mitochondrial tyrosyl-tRNA synthetase YARS2 suppresses
            colorectal cancer progression
  JOURNAL   Cancer Biol Ther 23 (1), 1-8 (2022)
   PUBMED   36154909
  REMARK    GeneRIF: Targeting mitochondrial tyrosyl-tRNA synthetase YARS2
            suppresses colorectal cancer progression.
REFERENCE   3  (bases 1 to 2117)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2117)
  AUTHORS   Fan W, Zheng J, Kong W, Cui L, Aishanjiang M, Yi Q, Wang M, Cang X,
            Tang X, Chen Y, Mo JQ, Sondheimer N, Ge W and Guan MX.
  TITLE     Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to
            the phenotypic expression of the deafness-associated tRNASer(UCN)
            7511A>G mutation
  JOURNAL   J Biol Chem 294 (50), 19292-19305 (2019)
   PUBMED   31685661
  REMARK    GeneRIF: findings provide molecular-level insights into the
            pathophysiology of maternally transmitted deafness arising from the
            synergy between tRNA(Ser(UCN)) and mitochondrial YARS mutations
REFERENCE   5  (bases 1 to 2117)
  AUTHORS   Riley LG, Heeney MM, Rudinger-Thirion J, Frugier M, Campagna DR,
            Zhou R, Hale GA, Hilliard LM, Kaplan JA, Kwiatkowski JL, Sieff CA,
            Steensma DP, Rennings AJ, Simons A, Schaap N, Roodenburg RJ,
            Kleefstra T, Arenillas L, Fita-Torro J, Ahmed R, Abboud M, Bechara
            E, Farah R, Tamminga RYJ, Bottomley SS, Sanchez M, Huls G, Swinkels
            DW, Christodoulou J and Fleming MD.
  TITLE     The phenotypic spectrum of germline YARS2 variants: from isolated
            sideroblastic anemia to mitochondrial myopathy, lactic acidosis and
            sideroblastic anemia 2
  JOURNAL   Haematologica 103 (12), 2008-2015 (2018)
   PUBMED   30026338
  REMARK    GeneRIF: Data suggest that biallelic tyrosyl-tRNA synthetase 2
            (YARS2) variants, including severe loss-of-function alleles should
            be considered as a cause of isolated congenital sideroblastic
            anemia, as well as the myopathy, lactic acidosis and sideroblastic
            anemia 2 (MLASA2) syndromic phenotype.
REFERENCE   6  (bases 1 to 2117)
  AUTHORS   Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M,
            Compton A, Lim SC, Thorburn D, Ryan MT, Giege R, Bahlo M and
            Christodoulou J.
  TITLE     Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2,
            causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA
            syndrome
  JOURNAL   Am J Hum Genet 87 (1), 52-59 (2010)
   PUBMED   20598274
  REMARK    GeneRIF: The YARS2 mutation reported here is an alternative cause of
            MLASA.
REFERENCE   7  (bases 1 to 2117)
  AUTHORS   Bonnefond L, Frugier M, Touze E, Lorber B, Florentz C, Giege R,
            Sauter C and Rudinger-Thirion J.
  TITLE     Crystal structure of human mitochondrial tyrosyl-tRNA synthetase
            reveals common and idiosyncratic features
  JOURNAL   Structure 15 (11), 1505-1516 (2007)
   PUBMED   17997975
  REMARK    GeneRIF: the structure of a strictly mitochondrial human synthetase,
            namely tyrosyl-tRNA synthetase (mt-TyrRS), in complex with an
            adenylate analog at 2.2 A resolution
REFERENCE   8  (bases 1 to 2117)
  AUTHORS   Szafranski K, Schindler S, Taudien S, Hiller M, Huse K, Jahn N,
            Schreiber S, Backofen R and Platzer M.
  TITLE     Violating the splicing rules: TG dinucleotides function as
            alternative 3' splice sites in U2-dependent introns
  JOURNAL   Genome Biol 8 (8), R154 (2007)
   PUBMED   17672918
  REMARK    GeneRIF: the apparent occurrence of an unusual TG 3' splice site in
            intron 5 is discussed
REFERENCE   9  (bases 1 to 2117)
  AUTHORS   Bonnefond L, Frugier M, Giege R and Rudinger-Thirion J.
  TITLE     Human mitochondrial TyrRS disobeys the tyrosine identity rules
  JOURNAL   RNA 11 (5), 558-562 (2005)
   PUBMED   15840810
  REMARK    GeneRIF: first example of a TyrRS lacking specificity toward N1-N72
            and thus of a TyrRS disobeying the identity rules
REFERENCE   10  (bases 1 to 2117)
  AUTHORS   Bonnefond L, Fender A, Rudinger-Thirion J, Giege R, Florentz C and
            Sissler M.
  TITLE     Toward the full set of human mitochondrial aminoacyl-tRNA
            synthetases: characterization of AspRS and TyrRS
  JOURNAL   Biochemistry 44 (12), 4805-4816 (2005)
   PUBMED   15779907
  REMARK    GeneRIF: The gene for mitochondrial tyrosyl-tRNA synthetase is
            described and the initial characterization of the enzyme is
            reported. Genes for the remaining missing synthetases have also been
            found with the exception of human glutaminyl-tRNA synthetase.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.20663.1,
            SRR7410570.498135.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000324868.13/ ENSP00000320658.8
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA748673.1, BC015625.2,
            BM979973.1, EB386795.1 and AI861961.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001040436.2.
            Summary: This gene encodes a mitochondrial protein that catalyzes
            the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are
            associated with myopathy with lactic acidosis and sideroblastic
            anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2117
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     gene            1..2117
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="tyrosyl-tRNA synthetase 2"
                     /db_xref="GeneID:51067"
                     /db_xref="HGNC:HGNC:24249"
                     /db_xref="MIM:610957"
     CDS             24..1457
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /EC_number="6.1.1.1"
                     /note="tyrosine tRNA ligase 2, mitochondrial;
                     tyrosine--tRNA ligase, mitochondrial; tyrosyl-tRNA
                     synthetase 2, mitochondrial"
                     /codon_start=1
                     /product="tyrosine--tRNA ligase, mitochondrial precursor"
                     /protein_id="NP_001035526.1"
                     /db_xref="CCDS:CCDS31770.1"
                     /db_xref="GeneID:51067"
                     /db_xref="HGNC:HGNC:24249"
                     /db_xref="MIM:610957"
                     /translation="MAAPILRSFSWGRWSGTLNLSVLLPLGLRKAHSGAQGLLAAQKAR
                     GLFKDFFPETGTKIELPELFDRGTASFPQTIYCGFDPTADSLHVGHLLALLGLFHLQRA
                     GHNVIALVGGATARLGDPSGRTKEREALETERVRANARALRLGLEALAANHQQLFTDGR
                     SWGSFTVLDNSAWYQKQHLVDFLAAVGGHFRMGTLLSRQSVQLRLKSPEGMSLAEFFYQ
                     VLQAYDFYYLFQRYGCRVQLGGSDQLGNIMSGYEFINKLTGEDVFGITVPLITSTTGAK
                     LGKSAGNAVWLNRDKTSPFELYQFFVRQPDDSVERYLKLFTFLPLPEIDHIMQLHVKEP
                     ERRGPQKRLAAEVTKLVHGREGLDSAKRCTQALYHSSIDALEVMSDQELKELFKEAPFS
                     EFFLDPGTSVLDTCRKANAIPDGPRGYRMITEGGVSINHQQVTNPESVLIVGQHILKNG
                     LSLLKIGKRNFYIIKWLQL"
     transit_peptide 24..71
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="Mitochondrion. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (Q9Y2Z4.2)"
     mat_peptide     72..1454
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /product="Tyrosine--tRNA ligase, mitochondrial.
                     /id=PRO_0000035830"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2Z4.2)"
     misc_feature    267..296
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2Z4.2);
                     Region: 'HIGH' region. /evidence=ECO:0000305"
     misc_feature    864..878
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2Z4.2);
                     Region: 'KMSKS' region. /evidence=ECO:0000305"
     misc_feature    1086..1088
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2Z4.2); acetylation site"
     misc_feature    1122..1124
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q8BYL4; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2Z4.2); acetylation site"
     regulatory      1481..1486
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="hexamer: AATAAA"
     polyA_site      1508
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
     regulatory      1618..1623
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="hexamer: AATAAA"
     polyA_site      1637
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="major polyA site"
     regulatory      1716..1721
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="hexamer: ATTATA"
     regulatory      1734..1739
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
                     /note="hexamer: AAGAAA"
     polyA_site      1739
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
     polyA_site      1757
                     /gene="YARS2"
                     /gene_synonym="CGI-04; MLASA2; MT-TYRRS; TYRRS"
ORIGIN
        1 attcccttcg tgccgctacc aagatggcgg cgcccatctt gcggtccttt tcctggggcc
       61 ggtggtctgg taccctaaat ctctcagtat tgttgccctt ggggctgcgt aaggcccact
      121 cgggcgctca ggggttactg gcagcgcaga aggctcgagg tctgttcaag gacttcttcc
      181 cggagacggg gacgaaaata gagctcccag agctcttcga ccgtggcacg gcgagttttc
      241 cccaaaccat ttactgtggc ttcgacccca cggcagactc gcttcatgtg ggtcatctac
      301 ttgcgctgct gggcctgttt catttgcagc gagcgggcca caacgtgatc gcgctggtgg
      361 gaggcgccac ggcgcgcctg ggagacccga gcggccgtac caaggaacgc gaggcgctgg
      421 agacagagcg cgtgcgagcc aacgcgcgag ctctgcgcct agggcttgag gccctggcgg
      481 ctaatcacca gcagcttttc actgatgggc gctcctgggg cagcttcact gtgctggaca
      541 actcggcctg gtaccagaag cagcacctgg tggacttcct ggcggcagtg gggggtcact
      601 tccgcatggg gacgctgctg agccggcaga gcgtgcagct gcggctcaag agccccgagg
      661 gcatgagctt ggccgagttc ttttaccagg tgctccaggc ctatgacttc tattacctct
      721 tccagcgtta tggatgcagg gtccagctgg gcggatctga tcaactaggc aacatcatgt
      781 ccggatatga gttcatcaac aagttgactg gagaagatgt atttggaatc accgttcctc
      841 taattacaag tacaactgga gcaaagctgg gaaagtctgc tggcaacgct gtttggctaa
      901 acagagataa gacatctcca tttgaattgt atcaattctt tgtcaggcaa ccggacgatt
      961 cagtggaaag gtacctgaag ctgttcactt tcctgcccct tccagagatt gatcatatca
     1021 tgcagctgca tgtcaaagag ccagaaaggc ggggtcctca gaaacgactg gcagcagaag
     1081 taacaaagct tgttcatgga cgagaaggat tggattctgc taaaaggtgt acacaagccc
     1141 tttatcacag tagcatagat gcactggagg tcatgtctga tcaggagtta aaagagttgt
     1201 ttaaagaagc tccattttct gaattttttc tcgatcctgg aacaagtgtc ctagatactt
     1261 gccgcaaagc aaatgccatt ccagatggtc cccgagggta tcgaatgata acagaaggcg
     1321 gagtcagcat aaatcaccaa caagtaacaa atcctgagag tgttttaatt gttggacaac
     1381 atattctcaa gaatggactt tccttactta aaataggaaa aagaaatttc tacattataa
     1441 aatggcttca gttgtgatga aaagtccttc tggttgtcca aataaactta cccatcattc
     1501 attctcaaga cctctgaagg gttggctcca gaacttagac ctttgcttat gcaaatcaga
     1561 aaaacagaat ggactaggac tcagtgtgag taacttcatt atttttatgg gccggttaat
     1621 aaatatttgt ttaataatgg gatgttttat tttctgatgt acaaagcttg attaccatag
     1681 aaaaccatga ttttcagggt taatctcttt ttaaaattat acttcagaag agaaagaaat
     1741 gctgctttcc tatcttaccc ttcctgctct cctttttgta gtgatgagga acaatgaaaa
     1801 agaggtagtg taaggaattg tgaggctggg catggtggct cacacctgta atcccagcac
     1861 ttcgggaggc caaggtgggc aaatcgcttg aggccaggag tttgagacca gcctggccaa
     1921 cagggcgaaa ccccgtctct actgaaaata taaaaattag ccagatgtgg ttgcaggcac
     1981 ctgtaacccc agctactcaa gaggctgagc tgcgagaatc acttgaaccc aggagatgga
     2041 ggttgcagtg agctgagatc acgccactgc actccagcct gggagacagc atgagtagtg
     2101 agtgaaactc tgtctca
//
LOCUS       NM_001040440            2387 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript
            variant 1, mRNA.
ACCESSION   NM_001040440
VERSION     NM_001040440.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2387)
  AUTHORS   Wang M, Liu X, Chang G, Chen Y, An G, Yan L, Gao S, Xu Y, Cui Y,
            Dong J, Chen Y, Fan X, Hu Y, Song K, Zhu X, Gao Y, Yao Z, Bian S,
            Hou Y, Lu J, Wang R, Fan Y, Lian Y, Tang W, Wang Y, Liu J, Zhao L,
            Wang L, Liu Z, Yuan R, Shi Y, Hu B, Ren X, Tang F, Zhao XY and Qiao
            J.
  TITLE     Single-Cell RNA Sequencing Analysis Reveals Sequential Cell Fate
            Transition during Human Spermatogenesis
  JOURNAL   Cell Stem Cell 23 (4), 599-614 (2018)
   PUBMED   30174296
REFERENCE   2  (bases 1 to 2387)
  AUTHORS   Gupta GD, Coyaud E, Goncalves J, Mojarad BA, Liu Y, Wu Q,
            Gheiratmand L, Comartin D, Tkach JM, Cheung SW, Bashkurov M, Hasegan
            M, Knight JD, Lin ZY, Schueler M, Hildebrandt F, Moffat J, Gingras
            AC, Raught B and Pelletier L.
  TITLE     A Dynamic Protein Interaction Landscape of the Human
            Centrosome-Cilium Interface
  JOURNAL   Cell 163 (6), 1484-1499 (2015)
   PUBMED   26638075
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.141754.1,
            SRR1803613.274560.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379611.10/ ENSP00000368931.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB451908.1, AJ580807.1, BM975079.1 and BM873447.1.
            On Nov 23, 2018 this sequence version replaced NM_001040440.2.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2387
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q22.3"
     gene            1..2387
                     /gene="CCDC112"
                     /gene_synonym="MBC1"
                     /note="coiled-coil domain containing 112"
                     /db_xref="GeneID:153733"
                     /db_xref="HGNC:HGNC:28599"
     CDS             112..1701
                     /gene="CCDC112"
                     /gene_synonym="MBC1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; coiled-coil domain-containing protein 112; mutated in
                     bladder cancer 1; mutated in bladder cancer protein 1"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 112 isoform
                     1 precursor"
                     /protein_id="NP_001035530.1"
                     /db_xref="CCDS:CCDS34213.1"
                     /db_xref="GeneID:153733"
                     /db_xref="HGNC:HGNC:28599"
                     /translation="MAALTTVVVAAAATAVAGAVAGAGAATGTGVGATPAPQQSDGCFS
                     TSGGIRPFHLQNWKQKVNQTKKAEFVRTAEKFKNQVINMEKDKHSHFYNQKSDFRIEHS
                     MLEELENKLIHSRKTERAKIQQQLAKIHNNVKKLQHQLKDVKPTPDFVEKLREMMEEIE
                     NAINTFKEEQRLIYEELIKEEKTTNNELSAISRKIDTWALGNSETEKAFRAISSKVPVD
                     KVTPSTLPEEVLDFEKFLQQTGGRQGAWDDYDHQNFVKVRNKHKGKPTFMEEVLEHLPG
                     KTQDEVQQHEKWYQKFLALEERKKESIQIWKTKKQQKREEIFKLKEKADNTPVLFHNKQ
                     EDNQKQKEEQRKKQKLAVEAWKKQKSIEMSMKCASQLKEEEEKEKKHQKERQRQFKLKL
                     LLESYTQQKKEQEEFLRLEKEIREKAEKAEKRKNAADEISRFQERDLHKLELKILDRQA
                     KEDEKSQKQRRLAKLKEKVENNVSRDPSRLYKPTKGWEERTKKIGPTGSGPLLHIPHRA
                     IPTWRQGIQRRV"
     sig_peptide     112..165
                     /gene="CCDC112"
                     /gene_synonym="MBC1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      2198..2203
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC112"
                     /gene_synonym="MBC1"
                     /note="hexamer: AATAAA"
     polyA_site      2222
                     /gene="CCDC112"
                     /gene_synonym="MBC1"
                     /note="major polyA site"
     regulatory      2364..2369
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC112"
                     /gene_synonym="MBC1"
                     /note="hexamer: TATAAA"
     polyA_site      2387
                     /gene="CCDC112"
                     /gene_synonym="MBC1"
ORIGIN
        1 atcccggcca agcccgcagc gcagggagct gtctgcagag gccagggtgc gcctgccacg
       61 aatccccagg caccggtggc cgccgcggcc cgagtagctc ggcgggtaaa catggccgca
      121 ctgacgacgg ttgtggtagc ggctgcggcc accgcggtag ccggggctgt ggcaggggcg
      181 ggcgcggcca ccgggaccgg cgtgggagcg acgccagcgc ctcaacagag tgatggctgt
      241 tttagtactt caggtggaat tcgtcctttt catcttcaga actggaagca gaaagttaat
      301 cagactaaga aagcagaatt tgtacgcaca gcagaaaaat ttaaaaatca agtaattaac
      361 atggaaaaag ataaacacag tcatttctac aaccaaaaaa gtgacttcag aattgagcat
      421 agtatgctag aagaattgga aaataaattg attcacagca ggaaaacaga aagagcaaaa
      481 atccagcaac aattggccaa aatacataat aatgtaaaga aacttcagca tcaattaaaa
      541 gatgtgaagc ctacacctga ttttgttgag aagctcagag aaatgatgga agaaattgaa
      601 aatgcaatta acacttttaa agaagagcag aggttgatat atgaagagct aattaaagaa
      661 gagaagacaa ctaataatga gttgagtgcc atatcaagaa aaattgacac atgggctttg
      721 ggtaattcag aaacagagaa agctttcaga gcaatctcaa gcaaagttcc tgtagacaaa
      781 gtaacaccaa gtactcttcc agaagaggta ctagattttg aaaaattcct tcagcaaaca
      841 ggagggcgac aaggtgcctg ggatgattat gatcaccaga actttgtaaa ggtgagaaac
      901 aaacataaag ggaagccaac atttatggaa gaagttctag aacaccttcc tggaaaaaca
      961 caagatgaag ttcaacagca tgaaaaatgg tatcaaaagt ttctggctct agaagaaaga
     1021 aaaaaagagt caattcagat ttggaaaact aaaaagcagc aaaaaaggga ggaaattttc
     1081 aagttaaagg aaaaggcaga caacacacct gtgctttttc ataataaaca agaggataat
     1141 caaaagcaaa aagaggaaca aagaaagaaa cagaaattgg cagttgaagc ttggaagaaa
     1201 cagaaaagta tagaaatgtc aatgaaatgt gcttcccagt taaaagaaga agaagagaaa
     1261 gagaaaaaac atcagaaaga acgccagcgc cagtttaagt taaaattact actagaaagt
     1321 tatacccagc agaagaaaga acaggaagaa tttttgaggc ttgaaaagga gataagggaa
     1381 aaggcagaaa aggcagaaaa aaggaaaaat gctgctgatg aaatttccag atttcaagaa
     1441 agagatttac ataaacttga actgaaaatt ctagatagac aggcaaagga agatgaaaag
     1501 tcacaaaaac aaagaagact ggcaaaatta aaagaaaagg ttgaaaacaa tgttagtaga
     1561 gatccctcta ggctttacaa acccaccaaa ggttgggaag aacgaaccaa aaagatagga
     1621 ccaacaggct ctgggccact tctacatatc ccacataggg ctattccaac ctggagacaa
     1681 ggaatacaga gaagagtatg agataatcaa attgctactc agttgataag aatgttaaca
     1741 tactaagtta taccagggag agagtgacta accacattct ttaaatatca atagcttagt
     1801 cagattgatt attgtgctat attgtgaatt gagaggtatt aagtttcatg aggctttgtc
     1861 attagtattc ctgcttctac caagaaggta tttaatatat gtgttggcct attattgatg
     1921 taaaagttat ttaaataagt taatgttaga aacattattc aatttaaata ctgaaaacat
     1981 ttcaaagaga ttttgttttt gttatagcat agcaaagtaa attggaacaa tcatacaatg
     2041 acatttttta aaccaaaatt ttgtaacttt tataacttgg agttaagtta gcttgagtaa
     2101 caaaaaggta aagtggtttt tgtttagagt tacgaaatgt tagtactttt tctatgttta
     2161 acaaattggc agtttgtcag ttatgacatt tttgtgtaat aaatattttg tatttgtttg
     2221 aagcatgctt tgttttatat agagaatatt tattttaaaa atatgtctct catataccct
     2281 attaattgta ttattgatat aatctttttg gtttccttca gcaattccaa attttccttc
     2341 agcctttctg gatttcacag atttataaaa tctttgtgtc tttcaca
//
LOCUS       NM_001040441            7077 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens zinc finger and BTB domain containing 8A (ZBTB8A),
            transcript variant 1, mRNA.
ACCESSION   NM_001040441
VERSION     NM_001040441.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7077)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 7077)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (bases 1 to 7077)
  AUTHORS   Zhong Q, Pevzner SJ, Hao T, Wang Y, Mosca R, Menche J, Taipale M,
            Tasan M, Fan C, Yang X, Haley P, Murray RR, Mer F, Gebreab F, Tam S,
            MacWilliams A, Dricot A, Reichert P, Santhanam B, Ghamsari L,
            Calderwood MA, Rolland T, Charloteaux B, Lindquist S, Barabasi AL,
            Hill DE, Aloy P, Cusick ME, Xia Y, Roth FP and Vidal M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 7077)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE,
            Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker SA,
            Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G,
            Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   5  (bases 1 to 7077)
  AUTHORS   Kim MK, Jeon BN, Koh DI, Kim KS, Park SY, Yun CO and Hur MW.
  TITLE     Regulation of the cyclin-dependent kinase inhibitor 1A gene (CDKN1A)
            by the repressor BOZF1 through inhibition of p53 acetylation and
            transcription factor Sp1 binding
  JOURNAL   J Biol Chem 288 (10), 7053-7064 (2013)
   PUBMED   23329847
  REMARK    GeneRIF: Data indicate BOZF1 represses transcription of CDKN1A by
            inhibition of p53 acetylation and Sp1 binding.
REFERENCE   6  (bases 1 to 7077)
  AUTHORS   Wang J, Huo K, Ma L, Tang L, Li D, Huang X, Yuan Y, Li C, Wang W,
            Guan W, Chen H, Jin C, Wei J, Zhang W, Yang Y, Liu Q, Zhou Y, Zhang
            C, Wu Z, Xu W, Zhang Y, Liu T, Yu D, Zhang Y, Chen L, Zhu D, Zhong
            X, Kang L, Gan X, Yu X, Ma Q, Yan J, Zhou L, Liu Z, Zhu Y, Zhou T,
            He F and Yang X.
  TITLE     Toward an understanding of the protein interaction network of the
            human liver
  JOURNAL   Mol Syst Biol 7, 536 (2011)
   PUBMED   21988832
  REMARK    Erratum:[Mol Syst Biol. 2017 Dec 18;13(12 ):965. PMID: 29254952]
            Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK074546.1, SRR1803617.185089.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000373510.9/ ENSP00000362609.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA530035.1, BC015239.1 and AL033529.25.
            On Nov 23, 2018 this sequence version replaced NM_001040441.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7077
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.1"
     gene            1..7077
                     /gene="ZBTB8A"
                     /gene_synonym="BOZF1; ZBTB8; ZNF916A"
                     /note="zinc finger and BTB domain containing 8A"
                     /db_xref="GeneID:653121"
                     /db_xref="HGNC:HGNC:24172"
                     /db_xref="MIM:618742"
     misc_feature    218..220
                     /gene="ZBTB8A"
                     /gene_synonym="BOZF1; ZBTB8; ZNF916A"
                     /note="upstream in-frame stop codon"
     CDS             230..1555
                     /gene="ZBTB8A"
                     /gene_synonym="BOZF1; ZBTB8; ZNF916A"
                     /note="isoform 1 is encoded by transcript variant 1; zinc
                     finger and BTB domain-containing protein 8A; BTB/POZ and
                     zinc-finger domains factor on chromosome 1; zinc finger and
                     BTB domain containing 8; BTB/POZ and zinc-finger
                     domain-containing factor"
                     /codon_start=1
                     /product="zinc finger and BTB domain-containing protein 8A
                     isoform 1"
                     /protein_id="NP_001035531.2"
                     /db_xref="CCDS:CCDS30664.1"
                     /db_xref="GeneID:653121"
                     /db_xref="HGNC:HGNC:24172"
                     /db_xref="MIM:618742"
                     /translation="MEISSHQSHLLQQLNEQRRQDVFCDCSILVEGKVFKAHRNVLFAS
                     SGYFKMLLSQNSKETSQPTTATFQAFSPDTFTVILDFVYSGKLSLTGQNVIEVMSAASF
                     LQMTDVISVCKTFIKSSLDISEKEKDRYFSLSDKDANSNGVERSSFYSGGWQEGSSSPR
                     SHLSPEQGTGIISGKSWNKYNYHPASQKNTQQPLAKHEPRKESIKKTKHLRLSQPSEVT
                     HYKSSKREVRTSDSSSHVSQSEEQAQIDAEMDSTPVGYQYGQGSDVTSKSFPDDLPRMR
                     FKCPYCTHVVKRKADLKRHLRCHTGERPYPCQACGKRFSRLDHLSSHFRTIHQACKLIC
                     RKCKRHVTDLTGQVVQEGTRRYRLCNECLAEFGIDSLPIDLEAEQHLMSPSDGDKDSRW
                     HLSEDENRSYVEIVEDGSADLVIQQVDDSEEEEEKEIKPNIR"
     misc_feature    656..982
                     /gene="ZBTB8A"
                     /gene_synonym="BOZF1; ZBTB8; ZNF916A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BR9.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    710..712
                     /gene="ZBTB8A"
                     /gene_synonym="BOZF1; ZBTB8; ZNF916A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q96BR9.3); phosphorylation site"
     misc_feature    728..730
                     /gene="ZBTB8A"
                     /gene_synonym="BOZF1; ZBTB8; ZNF916A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q96BR9.3); phosphorylation site"
     regulatory      7058..7063
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZBTB8A"
                     /gene_synonym="BOZF1; ZBTB8; ZNF916A"
                     /note="hexamer: AATAAA"
     polyA_site      7077
                     /gene="ZBTB8A"
                     /gene_synonym="BOZF1; ZBTB8; ZNF916A"
                     /note="major polyA site"
ORIGIN
        1 agcaaatacc ttttgtttct ctcacgttgg ggctacttgt tttagggcgc aaaggaacgg
       61 cctcgaaagg gggtccttcc ccagccgaga accaggaatc ttccctcggc ccgcgcgcgc
      121 gaccggccgg tgcgccgcgg cccgcggaca atcctccaaa cacagactgt ttgacttaga
      181 atcttccctt ttttactcca ttcaagagca gcattcataa atttccagaa tggagatctc
      241 ctctcatcag tctcacctcc tgcagcaact gaacgagcag cgcaggcaag atgtattttg
      301 tgactgcagt attctagttg aagggaaggt cttcaaagca catcgaaatg tattattcgc
      361 tagtagcggc tactttaaaa tgcttctttc tcagaattca aaggagacga gtcagccaac
      421 cacagctaca tttcaggctt tctcccctga cacttttaca gttatcttgg acttcgtata
      481 ttctggcaaa ctgtctctta ctggtcagaa tgtcatagaa gtgatgtcgg ctgctagctt
      541 ccttcagatg actgatgtca taagtgtatg taagactttt attaaatctt ccttagacat
      601 tagtgagaaa gaaaaagatc gctatttcag tctctcagat aaagatgcca attctaatgg
      661 tgtagaacgt tcctcttttt atagtggtgg ctggcaagaa ggaagcagtt ctccacgttc
      721 tcacctaagc ccagagcaag gaacaggtat aataagtgga aaatcttgga ataagtataa
      781 ttatcatcca gcctcccaga agaatactca acaacccttg gccaagcatg aaccaaggaa
      841 agagtccatt aaaaagacca aacatttgag attgtcacag ccttctgaag ttactcatta
      901 taagtcaagc aaacgagaag tacgaacatc tgattcttcc agccatgttt cccagtctga
      961 agaacaagca cagattgatg ctgaaatgga ctctactcct gttggctatc agtacggtca
     1021 aggatctgat gtcacatcca aaagctttcc agatgatctg cctcggatgc gattcaagtg
     1081 cccgtactgc acacatgtgg tgaagcggaa ggcagaccta aagcgccacc ttcgttgtca
     1141 tacaggagaa aggccctatc catgtcaagc ttgtggaaaa agatttagca ggctagacca
     1201 tctaagtagc cattttcgaa caattcacca ggcatgtaaa ctcatctgca gaaaatgtaa
     1261 acgtcatgtg acagatctaa cagggcaagt ggtacaggag ggaaccaggc gctacagact
     1321 gtgtaatgag tgtcttgcag aatttggcat agacagcctc cccattgact tggaagctga
     1381 acaacatctt atgtccccat cagatggaga taaggattcc agatggcact tgagtgaaga
     1441 tgagaataga tcctatgtgg agattgtaga agatgggtct gctgatctgg tcatccaaca
     1501 ggttgatgat agtgaagaag aagaagaaaa agaaattaag cccaacatta ggtagctgta
     1561 atgtgaacca acagagctgg catgtctgca atttacattg acttcctgta tctctctctt
     1621 tctatggtcg gagtctagtt aacaaattta tcacactgac tttaaagaaa tgatctgata
     1681 taacttgcat gctttctgaa caggccattg tatccattct gaactttgtt gccctaaaat
     1741 gtgttgctgc actggaaaga aagaactagc ttgagttggc ttgatggatg aacaattatc
     1801 ctcttacttt cattacaatc ctcttacttt attccagaga tacctttttc ttttaatatt
     1861 ggaggatcta cttagcaaac ttttttcaaa gaaaatactt taaataaatt caccacaacc
     1921 aaactttatg taagacaatt tcaaggtgtt tcaaaaacac ataactacca atgtttaatt
     1981 tcacagggaa ccagttaaga gcacatttaa ggatctggca acccacctta ctaaacaaat
     2041 tagtctttct attaatttga gatctgaaac aacctgtcat tactctgata tcctgaacgt
     2101 ttaaggatta tggaagaaga ctaaagtgtt tgaaatcatt catatttgaa atttttatca
     2161 ttagcttaaa aattactctc agtattgtta aaaaaaaaaa aaagtagagg ctggccaaag
     2221 attatataca gatattttct taaagcagga aactaatgtt gcctaaaagt caaggtagtt
     2281 tgtgaagaca atctgtcaat atggttgtcc atctctctaa agaaaagcag gctgggcgct
     2341 gtggctcatg cctataatcc caatactttg ggaggccgag gcaggcggat cacaaggtca
     2401 ggagtttgaa accagcctgg ccaacatggt gaaacctcgt ctctactaaa aaatacaaaa
     2461 ttagccgggc atggtggcgg gtgcctataa tcccagctac tcgggaggct gaggcaggag
     2521 aatcgattga acctggaagg cagaagttgc agtgagccga gatcacacca ttgcactcca
     2581 gcctgggcaa caagagcgaa actccgtctc aaaaaaaaaa ggaaaacaaa ctaggaggtt
     2641 cttaccatat gtgagtgatt tctaacgttt atgtagtgct atattattta taaagtactc
     2701 tctcatgtat tttctcagtg aggtggatac tatctccgat ttacaaatga ggaaattaag
     2761 gtcagaaagt ctgagagaga aaactgatga ttggacagga tctgatttta aacaatcctc
     2821 tttcagcctt ctctccctgt atgtctcctg aaatggcaaa gaatagaagt caaacctcac
     2881 cagttggcag tcattataaa aataagccaa tcagaattag aaagtatgaa aggaggaatt
     2941 gaatcatttt caacaacata caatatcttg atctagagat tttcaaataa tgctaagtaa
     3001 tgtccctaca gtacctattg gtatgttttt atgtcacgtt atttatatgt aaatttaaag
     3061 tataaaacta tttgaacaaa ttattcactt aaatatgttg aacatttttg cttctcttgt
     3121 ttatataata ttttcaaaac aaacttttct cctagtatac aaagtttaaa cttctcccct
     3181 ttgggctggg cccagtggct cacgcctgta atcccagcac tttgggaggc tgaggcaggt
     3241 ggatcaccga ggtcgggagt ttgagaccag cctgaccaac atggagaaac cccgtctcta
     3301 ctaaaaatac aaaattagcc gggcgtggtg gtgcatgcct gtaatcccag ctactcagaa
     3361 ggctgaggca ggaggatagc ttgaacccag gaggcagagg ctgcggtggg ctgaggttgc
     3421 gccattgcac tccagcctgg gcaacaagag cgaaactccg tctcaaaaaa aaaaaaaaaa
     3481 aaaacttctc ccctgcataa attatgaaac attccaaaat tacagctaaa ttagagaagc
     3541 attgtttcag ttctaaaggt aaaatctaaa tatccgaagt aaagaactga gcttcataaa
     3601 ggtctcttct gcaagttatc acagtgaagc ttgatagaat ttcactgtat atggagaggc
     3661 tccatctatt ttactgtttt cttttttgtt tttgtttttt tttcgagacg gagtctcgct
     3721 ctgtcgccca ggctggagtg cagtggtgca atctcagctc actgcaagct ccacctcccg
     3781 ggttctcgcc attctcctgc ctcagcctcc cgagtagctg ggacttacag gcgcccacca
     3841 ccactcccag ctaatttttt gtatttttaa tagagatggg gtttcaccgt gttagccagg
     3901 atggtctcaa tctcctgatc tcgtgatccg cccccctcgg cctcccaaag tgctgggatt
     3961 acaggcgtga gccactgcgc ccagccaatt ttactgtatt tttaaatgcc atgacatacc
     4021 tcaaaattat cctttttatg ttactatttt ctcttgttct ttcattaatt attgtccttg
     4081 ataccaattt ctaggctaaa ttggttactt tcttttaaaa aatttaaaaa tagatgaata
     4141 accacttgtt tcatggtact taattgagac tttttcaaga ttcccctgat ggcacatttg
     4201 cagttgcttc aagactggat gatgtgcatt gagttctctg ttctcccaac atggctgttc
     4261 ctaaatcagg attctggttt ttttgagatg gactctcgct ctgttgtcca agctggagtg
     4321 cagtggcgtg atctcgctca ccacaacctc tgcctcccgg gttcaagcga ttctcctgcc
     4381 tcagcctcct gagtagccgg gactacaggc atgtgccacc atgcctggct aatttttgta
     4441 tttttagtag agacagggtt tcgctatgtt ggccaggctg gtctcgaact cctgacctcg
     4501 tgatctgccc gcctcagcct cccaaagtgc tgggattaca ggcgtgagcc agcacgcccg
     4561 gcctaaatca ggattcttaa caattaaagt gtatctgaat gaggaaggaa acgcttgtca
     4621 ttctctagtc ttacccaatt aatactgaca ccttttgaaa ttaaaacctg attttttagt
     4681 tgttggagcc agtaggaaaa atggctgatt tgaacttttt tcctataaat gaagtagtgc
     4741 ttgcatgtgt gtactctaat gcactttagt ctatgatcta aatgtccttt tatgctatta
     4801 tcttctgcat gcaaacttta catacatcag catgaatatc caacattcac tgaacacagt
     4861 gccaccagca cttgtaattg ccttttcaga aataatgctt tctcataatt gtttataacg
     4921 agcatcaaac tatccccaca aaatgatcaa gttcaccaaa ctagacaaag aatctgttgt
     4981 atcattttaa catcatagaa gaacatttaa gacatgtttg taagttgtaa ataatgactc
     5041 cagttatagc atatatatct aagacgttag agaccagtta ttttctagag tgaaactgtc
     5101 tattgatgat tgagaaaatt gaattctttg gtttttacat gtgggcaaat gttacatagg
     5161 ggtataatct gtttaaataa gctttattta tgccaaggat ttttttttta atatcaagac
     5221 ttggttagac caaagtttgc tcttgcagga atgccattta tcagcttctg aatgcccttc
     5281 taactccatt accctcaaga gtgtctgggt ataggatgaa gcattacaaa aagaaagcac
     5341 cactgcagtc atgcctagtg tctgggagaa acaaaatgga ctagacctgc agtttaaaat
     5401 aatttaaccc gagaaactct tcaaatgaat tgtttcctaa agatgctcaa atttaaggga
     5461 taaactctaa aatcagagct gctgtggtta aagtccccca caaacctttc cccagacacc
     5521 tctgcagaac tcaggtgcac aatgttgaaa accatggaat tagacaactt cctgaattcc
     5581 ctttgagcct tgcagcctca tttcgttact cctgttactc acggtgctta taagcaggta
     5641 accatatggt ctcttagtga agcaaatcac atccttagca catgatgttc cttctatggg
     5701 tatcagatct taagactttt taaaatttag gaacaaatgt ttcaatatta tattttcagt
     5761 aatgcaatca aaataagcat agttactgtt ttctgtacgg ctaagtactg cctaatggat
     5821 gaaagaagtt tggtgcttca attatttatg agctcagaac tcaattcatt aaagttattt
     5881 tgccaagtca tgccaagata tattgaaatt tccactcata ttggttttta aaattttttt
     5941 tagtcctaaa attaataagt atggaaaatc actaaaagca gtgtaggata aggtgtgttt
     6001 aactggccgg gcacggtggc tcatgcctgt aatcctagca ctttgggagg ccgaggcggg
     6061 cggatcactt aaggccaggt gttcgagacc atcctggcca acatggtgaa accccgtctc
     6121 tagtaaaaat acaaaaaata gctgggcatg atggtgggtg cctgtaatcc caggtactcg
     6181 ggaggctgag gcaggagaat cgcttgaacc cgggaggtgg aggttgcagt ggccgagatc
     6241 gcaccactgc actccagcct gggtgacaga gcgagactcc atcaaaaaaa aaaaaaaaaa
     6301 aaaaaaagat gtgtttaact gggaagggtg ataataatag aataataggt acaggaggac
     6361 caaactttag attataaacc agaaagtttt gttattttat ataagtgtat cagtattact
     6421 atttatcatt tatatagcat tttatatttg caaagtgttt aataattttt gttattcttt
     6481 acatatatat gaaataggac agttatccca catgaacggt aaataaattg aggcacagaa
     6541 cagtaaaaaa acctcagggt caggcgtggt ggctcacacc tgtaatccca gcactttggg
     6601 aggccaaggc gggtggatca ctttaggtca agagttggag accagcctgg ggcaatatag
     6661 tgaaacccct tctctactaa aaatacaaaa attagccagg catggtggtg ggcacctgta
     6721 atcccagcta ctctgggggc tgagacagga gaattgcttg aactcaggag gcggaggttg
     6781 cagtgagcca agatcacgct actgcactcc aggctgggtg acagagcgag actccacctc
     6841 aaaaaaaaaa aaaaaaaaaa aaaaaagaac ctaagacaac ccagtgaaat ggtagcaaaa
     6901 aataggaaat ataatgatca cattttctga atcctagacc atcagcctaa ttcactgagg
     6961 tgtgttgtgt atcactctat tttatagatg attttatata agtaacagtg gattgtttta
     7021 aagctgacgt cattgtatgt ggatacattc tatatggaat aaatgttatg taaagga
//
LOCUS       NM_001040443            1356 bp    mRNA    linear   PRI 06-JUL-2023
DEFINITION  Homo sapiens PHD finger protein 11 (PHF11), transcript variant 1,
            mRNA.
ACCESSION   NM_001040443
VERSION     NM_001040443.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1356)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1356)
  AUTHORS   de Saram P, Iqbal A, Murdoch JN and Wilkinson CJ.
  TITLE     BCAP is a centriolar satellite protein and inhibitor of ciliogenesis
  JOURNAL   J Cell Sci 130 (19), 3360-3373 (2017)
   PUBMED   28775150
  REMARK    GeneRIF: data suggest that BCAP exists as two isoforms with subtly
            different roles in inhibition of ciliogenesis. Both are required to
            prevent ciliogenesis and one additionally controls cilium length
            after ciliogenesis has completed.
REFERENCE   3  (bases 1 to 1356)
  AUTHORS   Muscat P, Mercado K, Payne K, Chahal H and Jones G.
  TITLE     PHF11 expression and cellular distribution is regulated by the
            Toll-Like Receptor 3 Ligand Polyinosinic:Polycytidylic Acid in HaCaT
            keratinocytes
  JOURNAL   BMC Immunol 16, 69 (2015)
   PUBMED   26573531
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1356)
  AUTHORS   Holt RJ, Zhang Y, Binia A, Dixon AL, Vandiedonck C, Cookson WO,
            Knight JC and Moffatt MF.
  TITLE     Allele-specific transcription of the asthma-associated PHD finger
            protein 11 gene (PHF11) modulated by octamer-binding transcription
            factor 1 (Oct-1)
  JOURNAL   J Allergy Clin Immunol 127 (4), 1054-62 (2011)
   PUBMED   21320718
  REMARK    GeneRIF: the single nucleotide polymorphism rs1046295 of PHF11
            modulates allele-specific binding by the octamer-binding
            transcription factor 1
REFERENCE   5  (bases 1 to 1356)
  AUTHORS   Sy HY, Chan IH, Hon EK, Kong AP, Tang NL, Li CY, Wong GW, Waye MM,
            Lam CW, Chan JC and Leung TF.
  TITLE     PHF11 is not a major candidate gene for asthma or eczema in Chinese
            children
  JOURNAL   Pediatr Pulmonol 45 (9), 890-897 (2010)
   PUBMED   20717939
  REMARK    GeneRIF: PHF11 (PHD finger protein 11) is not a major candidate gene
            for asthma or eczema in Chinese children GeneRIF: Observational
            study of gene-disease association. (HuGE Navigator)
REFERENCE   6  (bases 1 to 1356)
  AUTHORS   Clarke E, Rahman N, Page N, Rolph MS, Stewart GJ and Jones GJ.
  TITLE     Functional characterization of the atopy-associated gene PHF11
  JOURNAL   J Allergy Clin Immunol 121 (5), 1148-1154 (2008)
   PUBMED   18405956
  REMARK    GeneRIF: PHF11 is a regulator of T(H)1-type cytokine gene expression
REFERENCE   7  (bases 1 to 1356)
  AUTHORS   Hersh CP, Raby BA, Soto-Quiros ME, Murphy AJ, Avila L, Lasky-Su J,
            Sylvia JS, Klanderman BJ, Lange C, Weiss ST and Celedon JC.
  TITLE     Comprehensive testing of positionally cloned asthma genes in two
            populations
  JOURNAL   Am J Respir Crit Care Med 176 (9), 849-857 (2007)
   PUBMED   17702965
  REMARK    GeneRIF: Results provide some further support for the role of
            genetic variation in PHF11 in asthma susceptibility. GeneRIF:
            Observational study of gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 1356)
  AUTHORS   Jang N, Stewart G and Jones G.
  TITLE     Polymorphisms within the PHF11 gene at chromosome 13q14 are
            associated with childhood atopic dermatitis
  JOURNAL   Genes Immun 6 (3), 262-264 (2005)
   PUBMED   15674390
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1356)
  AUTHORS   Zhang Y, Leaves NI, Anderson GG, Ponting CP, Broxholme J, Holt R,
            Edser P, Bhattacharyya S, Dunham A, Adcock IM, Pulleyn L, Barnes PJ,
            Harper JI, Abecasis G, Cardon L, White M, Burton J, Matthews L, Mott
            R, Ross M, Cox R, Moffatt MF and Cookson WO.
  TITLE     Positional cloning of a quantitative trait locus on chromosome 13q14
            that influences immunoglobulin E levels and asthma
  JOURNAL   Nat Genet 34 (2), 181-186 (2003)
   PUBMED   12754510
  REMARK    GeneRIF: Positional cloning of a quantitative trait locus on
            chromosome 13q14 that influences immunoglobulin E levels and asthma.
REFERENCE   10  (bases 1 to 1356)
  AUTHORS   Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH,
            Jongeneel V, Gure AO, Jager D, Jager E, Knuth A, Chen YT and Old LJ.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.897197.1,
            SRR3476690.1156379.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000378319.8/ ENSP00000367570.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA652444.1 and AK026228.1.
            On Nov 22, 2018 this sequence version replaced NM_001040443.2.
            Summary: This gene encodes a protein containing a PHD (plant
            homeodomain) type zinc finger. This gene has been identified in
            some studies as a candidate gene for asthma. Naturally-occurring
            readthrough transcription may occur from the upstream SETDB2 (SET
            domain bifurcated 2) gene to this locus. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Mar
            2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1356
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.2"
     gene            1..1356
                     /gene="PHF11"
                     /gene_synonym="APY; BCAP; IGEL; IGER; IGHER; NY-REN-34;
                     NYREN34"
                     /note="PHD finger protein 11"
                     /db_xref="GeneID:51131"
                     /db_xref="HGNC:HGNC:17024"
                     /db_xref="MIM:607796"
     CDS             50..1045
                     /gene="PHF11"
                     /gene_synonym="APY; BCAP; IGEL; IGER; IGHER; NY-REN-34;
                     NYREN34"
                     /note="isoform a is encoded by transcript variant 1; IgE
                     responsiveness (atopic); renal carcinoma antigen NY-REN-34;
                     BRCA1 C-terminus-associated protein"
                     /codon_start=1
                     /product="PHD finger protein 11 isoform a"
                     /protein_id="NP_001035533.1"
                     /db_xref="CCDS:CCDS31975.1"
                     /db_xref="GeneID:51131"
                     /db_xref="HGNC:HGNC:17024"
                     /db_xref="MIM:607796"
                     /translation="MAQASPPRPERVLGASSPEARPAQEALLLPTGVFQVAEKMEKRTC
                     ALCPKDVEYNVLYFAQSENIAAHENCLLYSSGLVECEDQDPLNPDRSFDVESVKKEIQR
                     GRKLKCKFCHKRGATVGCDLKNCNKNYHFFCAKKDDAVPQSDGVRGIYKLLCQQHAQFP
                     IIAQSAKFSGVKRKRGRKKPLSGNHVQPPETMKCNTFIRQVKEEHGRHTDATVKVPFLK
                     KCKEAGLLNYLLEEILDKVHSIPEKLMDETTSESDYEEIGSALFDCRLFEDTFVNFQAA
                     IEKKIHASQQRWQQLKEEIELLQDLKQTLCSFQENRDLMSSSTSISSLSY"
     regulatory      1337..1342
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHF11"
                     /gene_synonym="APY; BCAP; IGEL; IGER; IGHER; NY-REN-34;
                     NYREN34"
                     /note="hexamer: AATAAA"
     polyA_site      1356
                     /gene="PHF11"
                     /gene_synonym="APY; BCAP; IGEL; IGER; IGHER; NY-REN-34;
                     NYREN34"
                     /note="major polyA site"
ORIGIN
        1 acttccggga tctcgctatc cggccgccac ccgcagctgc agcacagtca tggcccaggc
       61 gtcgccgccc cggcccgaga gggtgctcgg cgccagcagc ccggaggccc ggcccgcgca
      121 ggaggcgctc ctccttccca ccggtgtctt tcaggttgca gaaaagatgg aaaaaaggac
      181 atgtgcactc tgccccaaag atgtcgaata taatgtccta tactttgcac aatcagagaa
      241 tatagctgct catgagaatt gtttgctgta ttcttcagga cttgtggaat gtgaggatca
      301 ggatccactt aatcctgata gaagttttga tgtggaatca gtaaagaaag aaatccagag
      361 aggaaggaag ttgaaatgca aattttgtca taaaagagga gccaccgtgg gatgtgattt
      421 aaaaaactgt aacaagaatt accacttttt ctgtgccaag aaggacgacg cagttccaca
      481 gtctgatgga gttcgaggaa tttataaact gctttgccag caacatgctc aattcccgat
      541 catcgctcaa agtgctaaat tttcaggagt gaaaagaaaa agaggaagga agaaacccct
      601 ctcaggcaat catgtacagc cacccgaaac aatgaaatgt aatacattca taagacaagt
      661 gaaagaagag catggcagac acacagatgc aactgtgaaa gttccttttc ttaagaaatg
      721 caaggaagca ggacttctta attacttact tgaagaaata ttagacaaag ttcattcaat
      781 tccagaaaaa ctcatggatg agactacttc agaatcagac tatgaagaaa tcgggagtgc
      841 actttttgac tgtagattgt tcgaagacac atttgtaaat tttcaagcag caatagagaa
      901 aaaaattcat gcatctcaac aaaggtggca gcagttgaag gaagagattg agctacttca
      961 ggacttaaaa caaaccttgt gctcttttca agaaaataga gatcttatgt caagttctac
     1021 atcaatatca tccctgtctt attagggatt accgtttcct aagccaagag tcatgtcaaa
     1081 ttgcaatcag gctcaaaacc agagaccagg ctgtgaaatc cacacatctt tagaactagt
     1141 cgtctcctct tggcctcagc agctcttccc tgttcttact ggttgacatt ttgatcactc
     1201 tttgcacact cttgtgtttt ttgctcactg tcacattccc agcacctagt atgctcagta
     1261 aatgtttgtg gaataagtgc ataaaatgtt cttaaccttt gattctactt acagcccatg
     1321 atagcctctt agatataata aatttggatt atacta
//
LOCUS       NM_001040445            6891 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens ankyrin repeat and SOCS box containing 1 (ASB1),
            transcript variant 1, mRNA.
ACCESSION   NM_001040445
VERSION     NM_001040445.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6891)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 6891)
  AUTHORS   Emeny RT, Baumert J, Zannas AS, Kunze S, Wahl S, Iurato S, Arloth J,
            Erhardt A, Balsevich G, Schmidt MV, Weber P, Kretschmer A, Pfeiffer
            L, Kruse J, Strauch K, Roden M, Herder C, Koenig W, Gieger C,
            Waldenberger M, Peters A, Binder EB and Ladwig KH.
  TITLE     Anxiety Associated Increased CpG Methylation in the Promoter of
            Asb1: A Translational Approach Evidenced by Epidemiological and
            Clinical Studies and a Murine Model
  JOURNAL   Neuropsychopharmacology 43 (2), 342-353 (2018)
   PUBMED   28540928
  REMARK    GeneRIF: Epigenetic regulation of the stress-responsive Asb1 gene in
            anxiety-related phenotypes.
REFERENCE   3  (bases 1 to 6891)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 6891)
  AUTHORS   Bennett EJ, Rush J, Gygi SP and Harper JW.
  TITLE     Dynamics of cullin-RING ubiquitin ligase network revealed by
            systematic quantitative proteomics
  JOURNAL   Cell 143 (6), 951-965 (2010)
   PUBMED   21145461
REFERENCE   5  (bases 1 to 6891)
  AUTHORS   Kohroki J, Nishiyama T, Nakamura T and Masuho Y.
  TITLE     ASB proteins interact with Cullin5 and Rbx2 to form E3 ubiquitin
            ligase complexes
  JOURNAL   FEBS Lett 579 (30), 6796-6802 (2005)
   PUBMED   16325183
REFERENCE   6  (bases 1 to 6891)
  AUTHORS   Kile BT, Schulman BA, Alexander WS, Nicola NA, Martin HM and Hilton
            DJ.
  TITLE     The SOCS box: a tale of destruction and degradation
  JOURNAL   Trends Biochem Sci 27 (5), 235-241 (2002)
   PUBMED   12076535
  REMARK    Review article
REFERENCE   7  (bases 1 to 6891)
  AUTHORS   Kile BT, Metcalf D, Mifsud S, DiRago L, Nicola NA, Hilton DJ and
            Alexander WS.
  TITLE     Functional analysis of Asb-1 using genetic modification in mice
  JOURNAL   Mol Cell Biol 21 (18), 6189-6197 (2001)
   PUBMED   11509662
REFERENCE   8  (bases 1 to 6891)
  AUTHORS   Kile BT, Viney EM, Willson TA, Brodnicki TC, Cancilla MR, Herlihy
            AS, Croker BA, Baca M, Nicola NA, Hilton DJ and Alexander WS.
  TITLE     Cloning and characterization of the genes encoding the ankyrin
            repeat and SOCS box-containing proteins Asb-1, Asb-2, Asb-3 and
            Asb-4
  JOURNAL   Gene 258 (1-2), 31-41 (2000)
   PUBMED   11111040
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.15560.1,
            SRR1660803.17137.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000264607.9/ ENSP00000264607.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016999.8 and BC014528.2.
            On Nov 23, 2018 this sequence version replaced NM_001040445.2.
            Summary: The protein encoded by this gene contains an ankyrin
            repeat sequence and SOCS box domain. The SOCS box serves to couple
            suppressor of cytokine signalling (SOCS) proteins and their binding
            partners with the elongin B and C complex, targeting them for
            ubiquitination and degradation. [provided by RefSeq, Aug 2016].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6891
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     gene            1..6891
                     /gene="ASB1"
                     /gene_synonym="ASB-1"
                     /note="ankyrin repeat and SOCS box containing 1"
                     /db_xref="GeneID:51665"
                     /db_xref="HGNC:HGNC:16011"
                     /db_xref="MIM:605758"
     CDS             145..1152
                     /gene="ASB1"
                     /gene_synonym="ASB-1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ankyrin repeat and SOCS box protein 1"
                     /codon_start=1
                     /product="ankyrin repeat and SOCS box protein 1 isoform 1"
                     /protein_id="NP_001035535.1"
                     /db_xref="CCDS:CCDS33416.1"
                     /db_xref="GeneID:51665"
                     /db_xref="HGNC:HGNC:16011"
                     /db_xref="MIM:605758"
                     /translation="MAEGGSPDGRAGPGSAGRNLKEWLREQFCDHPLEHCEDTRLHDAA
                     YVGDLQTLRSLLQEESYRSRINEKSVWCCGWLPCTPLRIAATAGHGSCVDFLIRKGAEV
                     DLVDVKGQTALYVAVVNGHLESTQILLEAGADPNGSRHHRSTPVYHASRVGRADILKAL
                     IRYGADVDVNHHLTPDVQPRFSRRLTSLVVCPLYISAAYHNLQCFRLLLLAGANPDFNC
                     NGPVNTQGFYRGSPGCVMDAVLRHGCEAAFVSLLVEFGANLNLVKWESLGPESRGRRKV
                     DPEALQVFKEARSVPRTLLCLCRVAVRRALGKHRLHLIPSLPLPDPIKKFLLHE"
     misc_feature    250..348
                     /gene="ASB1"
                     /gene_synonym="ASB-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y576.1);
                     Region: ANK 1"
     misc_feature    373..462
                     /gene="ASB1"
                     /gene_synonym="ASB-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y576.1);
                     Region: ANK 2"
     misc_feature    472..561
                     /gene="ASB1"
                     /gene_synonym="ASB-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y576.1);
                     Region: ANK 3"
     misc_feature    571..660
                     /gene="ASB1"
                     /gene_synonym="ASB-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y576.1);
                     Region: ANK 4"
     misc_feature    715..804
                     /gene="ASB1"
                     /gene_synonym="ASB-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y576.1);
                     Region: ANK 5"
     misc_feature    847..939
                     /gene="ASB1"
                     /gene_synonym="ASB-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y576.1);
                     Region: ANK 6"
     regulatory      1348..1353
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASB1"
                     /gene_synonym="ASB-1"
                     /note="hexamer: ACTAAA"
     polyA_site      1373
                     /gene="ASB1"
                     /gene_synonym="ASB-1"
                     /note="major polyA site"
     regulatory      1539..1544
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASB1"
                     /gene_synonym="ASB-1"
                     /note="hexamer: ATTAAA"
     polyA_site      1561
                     /gene="ASB1"
                     /gene_synonym="ASB-1"
     regulatory      6863..6868
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASB1"
                     /gene_synonym="ASB-1"
                     /note="hexamer: AATAAA"
     polyA_site      6891
                     /gene="ASB1"
                     /gene_synonym="ASB-1"
                     /note="major polyA site"
ORIGIN
        1 agtgaggccg gcgcgcgccc gccggaagcc gcgaccccga cgcgcccccc attgccctcg
       61 gcgccggaag tggtcgcggg tcgttctgct tcctgcccga ggggcgtgcg cgggtcaggg
      121 gcggccgcgg aggcggaagc atccatggcg gagggcggca gcccagacgg gcgggcaggg
      181 ccgggctccg caggtcgtaa tctgaaggag tggctgaggg agcaattttg tgatcatccg
      241 ctggagcact gtgaggacac gaggctccat gatgcagctt acgtcgggga cctccagacc
      301 ctcaggagcc tattgcaaga ggagagctac cggagccgca tcaacgagaa gtctgtctgg
      361 tgctgtggct ggctcccctg cacaccgttg cgaatcgcgg ccactgcagg ccatgggagc
      421 tgtgtggact tcctcatccg gaagggggcc gaggtggatc tggtggacgt aaaaggacag
      481 acggccctgt atgtggctgt ggtgaacggg cacctagaga gtacccagat ccttctcgaa
      541 gctggcgcgg accccaacgg aagccggcac catcgcagca cccctgtcta ccacgcctct
      601 cgcgtgggcc gggcagacat cctgaaggcc ctcatcaggt acggggctga tgttgacgtc
      661 aaccaccacc tgactcctga tgtccagcct cgattctccc ggcggctcac ctccttggtg
      721 gtctgcccct tgtacatcag cgcagcctac cacaacctcc agtgcttccg gctgctcctc
      781 ctggctggcg cgaaccctga cttcaactgc aatggtcctg tcaacacaca gggattctac
      841 aggggctccc ctgggtgcgt catggatgct gttctgcgcc acggctgtga ggcagccttc
      901 gtgagcctgc tggtagaatt tggagccaac ctgaatctag tgaagtggga atcgctgggc
      961 ccagagtcga gaggaagaag aaaagtggac cctgaggcct tgcaggtctt taaagaggcc
     1021 agaagtgttc ccagaacctt gctgtgtctg tgccgtgtgg ctgtgagaag agctcttggc
     1081 aaacaccggc ttcatctgat tccttcgctg cctctgccag accccataaa gaagtttcta
     1141 ctccatgagt agactccaag tgctgcggtt gattccagtg agggagaaag tgatctgcag
     1201 ggaggtggac accgagccct gagtgctgtg ctgctgctgg tctcctgatg gctgttgctg
     1261 cagaagatgt cctcgtagac tgtcattgct cctcaggtgc ctgggccgct gaacagtcct
     1321 tgggtcattg tcagctgaga ggcttatact aaagttatta ttgtttttcc caagttctct
     1381 gttctggatt ttcagttgca tattaatgta acgggccatg gggtatgtac atgtaggggc
     1441 tgaggttgga ggcctactaa tttccctgta gggaagactc ccagcacttc tggaactgtg
     1501 cttctcttta tttttctact tctcaatttg atggttcgat taaagccttc tagtatctca
     1561 atgaaaaggg agtttcgtaa gcaaaataga ggacagaaat gcagttcatg aacttgctgg
     1621 ttggtttttc ctgctcctgg ggtaacacat gcgcttgtca tacacgcccc ttccttgccc
     1681 cttcagtatt ctctctttgc gatggaggtc tcatagtgag tgtcttcact caagggtggt
     1741 ttcctggctg cacggcacct gttccaacac ctactgtgcc tctcatcagg tgtcacgatt
     1801 tttctgccac ttcaccttag ggagcttcca gtgattgatt ttaggaggcc cacaccaaac
     1861 tccccaggaa atgactgcct tccttgggac caaggaccgt tccaacagca ttcactgcca
     1921 gttctaatag gcgaggaaaa tgcccgaggc gctgtcttct gtcccccaca cgtaccagaa
     1981 agtgaaaaat gcagcgagtc ctctgggtgg ttatgagcct ccaggcgcat gctgtccagt
     2041 ggacagaaca tctggcggtt ggttgattgc tctcttttgt cttggtcgct gcttctagaa
     2101 tctatgcagg ggatagcagt gaggtcagaa gtctttcccg ggagagagat ggcctgggtt
     2161 atcattgctg atagctttgg ctgcatgagt tgggcttccc cttacccagg gctgcacagc
     2221 caggtgtgag ggtcaccggc aggtgggctg gtggctgcag cctcagagcc ctcccaggtt
     2281 gctgctgttt ccagtgaatc acatttcgtc atttgaagcc catgaggacc attgtgtgga
     2341 tccatggtga ttctagactt cagatatatt taggaaggcg cagatttcaa atctgtgttt
     2401 gattttctgt aataagagaa atccaatttg taaaacttga acaatgatac cgttttattt
     2461 acttagtagc atcactgtgt gtcttagcag gcaggcagtg tctggccatt attgcgttct
     2521 acagccagag gatagaattc tataccccca accccttgtg tcacaaatgg gctctgtgtg
     2581 ggtcacccca gctgacccgt gtatgtgcag atgcagttcc gaagggaaga acagtcctcg
     2641 ggtgattcag aggggaaaat gcaatccggg aggtgtttcc tcagctgagg tgacactgtt
     2701 agaagctgtg atggttgtgt aaatgtgggc tgtgtgctgt tcccgagggg agcttgggat
     2761 tgggtcctgc tgaagccagg agggtcttcc caagatagga gaggaaccgc aggtggtgag
     2821 cggctgggga gggccaggac agccggggct gggtgctgca ggggcttcag cccgggagag
     2881 ggggtgggcg tgttctttgt ggtaccaaag tgggactagg acaaaaattg ggctgtggct
     2941 ggggcaggag ctatagggag ttaaggaatg atgatacgga agttggagcc accaccgtgg
     3001 actgggcctt gtcactggag gtcgtaggca gtggctcatc accctggtag ggctgatagg
     3061 ggctttcagg gaggctggtt agctccctgc actctggctc tttactggct tactgtttag
     3121 ctcctcccac ctcgaggctc ttcttcctgc caccctttgg gctcagagga gggtggcttt
     3181 tttcgaggtg agccatgttg tagacacatg atacgctctg cgtctgctct actgagtact
     3241 ttctgcaggg gcctgttaag gacgaggcct ccccagccct gcccggtgca ggaggtggct
     3301 cagttattga accttttggg aagcagcacc tgggaatgct gcctcgtggg agtcccatgc
     3361 gtgagtgtgg tggtgtgacc ttcaggctgc acagaggcaa ggacccagat gtggcagcat
     3421 gggcgtcatg ctcctttgca cagcccaggg cctgttttgg agggaccagg tcactgcccc
     3481 tggtctctct aggaggagtg gactgaatgg atcgttgcag agaagactca cccagacctg
     3541 gccagggaat gatgtatctg gggagagaat gagctggagg agggggcctc tcatggccct
     3601 tccctggcct gtggcccagc ctggctggcc tgcaggtgtc tagggtctca gcttttcatt
     3661 tgcagaggac atgttcaact tcctctctgt tcaagccagc ctttgccaat tttttcagaa
     3721 tccaaacaat ttggaggttt ggtatcttgt ttcatagctg ccaaatatga atctgaaaac
     3781 agggtgggta gctaaggtca ttcctcctgg gttttagtgg cattgccttc cttcactaaa
     3841 gctccctttt ttttctgttg gcaaggacag gttacagaat aggaagagta gcactttccg
     3901 cctaagcact ttaggaaatc acctttctaa gccctggggc gcccaagtcc catgggacag
     3961 ggaaacgtgg tcctcagtga ggctgctgcc tggctggccc ggagtcctcc ctaggagagg
     4021 ggctcgatgg gctgggggaa ggagcctgaa ggttgcccct ggttgcatcc cagaagcatc
     4081 tgactgtcac cactgccagt ggctgtggaa cagtcctggg ccctgggcct tggctgctgt
     4141 caacagatgg gctgggctgg gctgtggtgg ggtgggggac aacgttggta actctgagaa
     4201 ttcagctttg gagtcccggg tgaggggttt tagataaacc catcaatatc acccacattc
     4261 tgtgactctt tgcatcactc gtgttattta tttatttatt tatattctgc cttgttccag
     4321 aaaagtgttt aaggcaacaa tgcttgtttt ttggtgtttt cttttgacat ttgaaaattt
     4381 agtacattgt taaaatgtac ttgttaaaca ggtaatttta aagagaagga acaattgttt
     4441 ttagtaagtt ttctttttcc tttttcaatg aattgattct tcaaattaaa agttcttgag
     4501 agaaggagag gaagatacag cagacatagg actgagccaa ggaagagtct gcctgagaga
     4561 gacgcttggc ctgtgctttg ctgccatccg tgcggccttg gccacatccc tattaacaga
     4621 ggcagctcca cttcagacag ggacaaggct tcctgctgtg cctttctggc agggttttgt
     4681 ggggtcacat gggaagcaat gtgttacgca agcagtctcc atgtgtgtgt aaactgctgt
     4741 cctggtgact tgtccctctt cttagtggaa atgcatttga gatggtgaca gggctggatg
     4801 aacgtgtgac cctgggagat ccgggctgga ctgtggaccc cgatgggcca gagtccttgt
     4861 ggcccacagc atagcactgg ggacagagcg ctctatgcag gtgaggcgta tgagaacagc
     4921 atggtaaata attgatgaag tcacatttgt tcaacttaaa ggattgttct ttattctgaa
     4981 gttattttct tccttatttg gatgataaaa tttcctttta tgtaatgaag gtaaaagtag
     5041 agggcaatat ttttgctttt tgaaatgctc ttggttgcaa aacaaaatgt tggttgctgt
     5101 ttgtcagccc cagaatttct tcttaagttc gcctgtctct gaaatcccaa agtcacggaa
     5161 ccgcagtcta gctgtggtgc atgtttacgt attggtgaga aattcctctt gggttcttga
     5221 acagcctgta cgctggcagg cagcactgca gcatttctgc tgctcatggc caagaacgag
     5281 tctggagatc gctgcgtgcg gttttaggaa gtgccaacac ccgtggtgat gggcctctgg
     5341 ccacccctgg atccatggga cacactcaca ggaagctgat gtggccttct cggtgaggac
     5401 tgcaccttaa cctgggcact gggagcctgt ggcccccctg tatgttggtg atgacactag
     5461 tgtgggtctt ctggctctgg ggctacagct tctgcctcct cacctggccg tcggtactcg
     5521 gcaagcaggc ctggcctccc ggggcctgga tccctaccgg ctgggattgg cctcctggaa
     5581 gtacctgttt gggccatgtg acctcctttc tcacttatgc ctcactcccc tcctcccgct
     5641 ccaaacccga acctctcagt gtggaatgaa cgctccaaac ccgaacctct cagtgtggaa
     5701 tgaacgctcc aaacccgaac ctctcagtgt ggaatgaaac agtttagatg tgtacatgat
     5761 gcacgtgggt gggattcaca tcccaggaga attccacgga gaggaatgtg cagattttga
     5821 agtgtacagt gatgtgtgga ataaatacta gaaattctca gcagacagtg ggatggagaa
     5881 gtgagtgggg gcaggagggg gatttctgtt gccttgacat gtcgttgctc agtgcctgga
     5941 ttgcaggcga gtctctcttt tttatgttgc tttgatttca agatctctta gatatactag
     6001 gtagtgtatg aatgtgcata aatccagttt gagaatggtg tttatgaaga agctgtttcg
     6061 tgtgtacagt tgctgctgta atttagccag cagtgccctg ccctgccctg cagtgtctgc
     6121 tcagctccca ctgcttctct ttgctgttgg gcatgtgagg catgacttgg aggggggcct
     6181 ggtgcctggg gacctgctga agagaatgct caccaccagc tctctgtttc cctttctgct
     6241 ttggtaatca acacgtgttt gcctgcagtg gccgggaccg tgactgtttc tgcccttgtg
     6301 cctagttaag agccttcaaa agcataatga acacttttga tatgatattg taactttagt
     6361 aaatgcttta cttccctcta attgccccca aatgccttaa ttttgtggac tgtttatttc
     6421 aacaggtgga agtgttggtc gtgcgaaatc ttggtattcg catttcaaga agggagttct
     6481 tttttctttc ttctttctat ggaacgtttc aagtgattgg atagaaagaa gggctctgaa
     6541 gcaggagttt tcacctgctc tgagggaact tggggctcca gggacgtacc ccaaatgttg
     6601 cccaggttga aactccctga cagcctgttc tacgtagtgg ctcgtggttt ccagtttgaa
     6661 gagagttgtg cccctaaaag tgtttgaaac ctgtggcttt caagcaaggt accgttgtcc
     6721 ccacagtgtt ccgtggggta gggggtgatg gagactgtgg gcaagcctgt tgtttttggc
     6781 cccctgttgt tacatgggac ctgttttgac ggtgggaggg tgagatgtga agatgtggga
     6841 tgaacctgga atgaacgaat taaataaaga catgcatcca tctgtcagcg a
//
LOCUS       NM_001040446            5116 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens myotubularin related protein 12 (MTMR12), transcript
            variant 1, mRNA.
ACCESSION   NM_001040446
VERSION     NM_001040446.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5116)
  AUTHORS   St-Denis N, Gupta GD, Lin ZY, Gonzalez-Badillo B, Veri AO, Knight
            JDR, Rajendran D, Couzens AL, Currie KW, Tkach JM, Cheung SWT,
            Pelletier L and Gingras AC.
  TITLE     Phenotypic and Interaction Profiling of the Human Phosphatases
            Identifies Diverse Mitotic Regulators
  JOURNAL   Cell Rep 17 (9), 2488-2501 (2016)
   PUBMED   27880917
REFERENCE   2  (bases 1 to 5116)
  AUTHORS   Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass
            JR, Talbot EA, Amoasii L, Goldman NE, Laporte J and Beggs AH.
  TITLE     Loss of catalytically inactive lipid phosphatase
            myotubularin-related protein 12 impairs myotubularin stability and
            promotes centronuclear myopathy in zebrafish
  JOURNAL   PLoS Genet 9 (6), e1003583 (2013)
   PUBMED   23818870
  REMARK    GeneRIF: Analysis of human XLMTM patient myotubes showed that
            mutations that disrupt the interaction between myotubularin and
            MTMR12 proteins result in reduction of both myotubularin and MTMR12
REFERENCE   3  (bases 1 to 5116)
  AUTHORS   Ritter,B.P., Angelo,G.W., Durner,M., Rossy-Fullana,E.,
            Carrion-Baralt,J., Silverman,J.M. and Bespalova,I.N.
  TITLE     Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients
            with schizophrenia
  JOURNAL   Psychiatr Genet 22 (1), 51-52 (2012)
   PUBMED   21451436
  REMARK    GeneRIF: This study does not support the association of PDZD2,
            GOLPH3, and MTMR12 genes with schizophrenia.
REFERENCE   4  (bases 1 to 5116)
  AUTHORS   Lorenzo O, Urbe S and Clague MJ.
  TITLE     Systematic analysis of myotubularins: heteromeric interactions,
            subcellular localisation and endosome related functions
  JOURNAL   J Cell Sci 119 (Pt 14), 2953-2959 (2006)
   PUBMED   16787938
REFERENCE   5  (bases 1 to 5116)
  AUTHORS   Nandurkar HH, Layton M, Laporte J, Selan C, Corcoran L, Caldwell KK,
            Mochizuki Y, Majerus PW and Mitchell CA.
  TITLE     Identification of myotubularin as the lipid phosphatase catalytic
            subunit associated with the 3-phosphatase adapter protein, 3-PAP
  JOURNAL   Proc Natl Acad Sci U S A 100 (15), 8660-8665 (2003)
   PUBMED   12847286
  REMARK    GeneRIF: Identification of myotubularin as the lipid phosphatase
            catalytic subunit associated with the 3-phosphatase adapter protein,
            3-PAP.
REFERENCE   6  (bases 1 to 5116)
  AUTHORS   Wishart MJ and Dixon JE.
  TITLE     PTEN and myotubularin phosphatases: from 3-phosphoinositide
            dephosphorylation to disease
  JOURNAL   Trends Cell Biol 12 (12), 579-585 (2002)
   PUBMED   12495846
  REMARK    Review article
REFERENCE   7  (bases 1 to 5116)
  AUTHORS   Nandurkar HH, Caldwell KK, Whisstock JC, Layton MJ, Gaudet EA,
            Norris FA, Majerus PW and Mitchell CA.
  TITLE     Characterization of an adapter subunit to a phosphatidylinositol
            (3)P 3-phosphatase: identification of a myotubularin-related protein
            lacking catalytic activity
  JOURNAL   Proc Natl Acad Sci U S A 98 (17), 9499-9504 (2001)
   PUBMED   11504939
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.223827.1,
            SRR1660807.61944.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000382142.8/ ENSP00000371577.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY028703.1, AC025181.8 and
            BC057393.1.
            On Nov 23, 2018 this sequence version replaced NM_001040446.2.
            Summary: Phosphatidylinositide 3-kinase-derived membrane-anchored
            phosphatidylinositides, such as phosphatidylinositol 3-phosphate
            (PtdIns(3)P), regulate diverse cellular processes. The protein
            encoded by this gene functions as an adaptor subunit in a complex
            with an active PtdIns(3)P 3-phosphatase. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jun 2014].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5116
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.3"
     gene            1..5116
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /note="myotubularin related protein 12"
                     /db_xref="GeneID:54545"
                     /db_xref="HGNC:HGNC:18191"
                     /db_xref="MIM:606501"
     misc_feature    15..17
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /note="upstream in-frame stop codon"
     CDS             102..2345
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /note="isoform 1 is encoded by transcript variant 1;
                     phosphatidylinositol-3 phosphate 3-phosphatase adaptor
                     subunit; inactive phosphatidylinositol 3-phosphatase 12;
                     3-phosphatase adapter subunit;
                     phosphatidylinositol-3-phosphate associated protein;
                     3-phosphatase adapter protein; phosphatidylinositol 3
                     phosphate 3-phosphatase adapter subunit"
                     /codon_start=1
                     /product="myotubularin-related protein 12 isoform 1"
                     /protein_id="NP_001035536.1"
                     /db_xref="CCDS:CCDS34138.1"
                     /db_xref="GeneID:54545"
                     /db_xref="HGNC:HGNC:18191"
                     /db_xref="MIM:606501"
                     /translation="MLGKGVVGGGGGTKAPKPSFVSYVRPEEIHTNEKEVTEKEVTLHL
                     LPGEQLLCEASTVLKYVQEDSCQHGVYGRLVCTDFKIAFLGDDESALDNDETQFKNKVI
                     GENDITLHCVDQIYGVFDEKKKTLFGQLKKYPEKLIIHCKDLRVFQFCLRYTKEEEVKR
                     IVSGIIHHTQAPKLLKRLFLFSYATAAQNNTVTDPKNHTVMFDTLKDWCWELERTKGNM
                     KYKAVSVNEGYKVCERLPAYFVVPTPLPEENVQRFQGHGIPIWCWSCHNGSALLKMSAL
                     PKEQDDGILQIQKSFLDGIYKTIHRPPYEIVKTEDLSSNFLSLQEIQTAYSKFKQLFLI
                     DNSTEFWDTDIKWFSLLESSSWLDIIRRCLKKAIEITECMEAQNMNVLLLEENASDLCC
                     LISSLVQLMMDPHCRTRIGFQSLIQKEWVMGGHCFLDRCNHLRQNDKEEVPVFLLFLDC
                     VWQLVHQHPPAFEFTETYLTVLSDSLYIPIFSTFFFNSPHQKDTNMGREGQDTQSKPLN
                     LLTVWDWSVQFEPKAQTLLKNPLYVEKPKLDKGQRKGMRFKHQRQLSLPLTQSKSSPKR
                     GFFREETDHLIKNLLGKRISKLINSSDELQDNFREFYDSWHSKSTDYHGLLLPHIEGPE
                     IKVWAQRYLRWIPEAQILGGGQVATLSKLLEMMEEVQSLQEKIDERHHSQQAPQAEAPC
                     LLRNSARLSSLFPFALLQRHSSKPVLPTSGWKALGDEDDLAKREDEFVDLGDV"
     misc_feature    1446..1775
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0I1.2);
                     Region: Interaction with MTM1.
                     /evidence=ECO:0000269|PubMed:12847286"
     misc_feature    1791..1793
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9C0I1.2); phosphorylation site"
     misc_feature    1902..1904
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5FVM6; propagated from
                     UniProtKB/Swiss-Prot (Q9C0I1.2); phosphorylation site"
     misc_feature    2247..2249
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9C0I1.2); phosphorylation site"
     regulatory      2461..2466
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /note="hexamer: AATAAA"
     polyA_site      2484
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
     regulatory      5094..5099
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /note="hexamer: ATTAAA"
     polyA_site      5116
                     /gene="MTMR12"
                     /gene_synonym="3-PAP; PIP3AP"
                     /note="major polyA site"
ORIGIN
        1 ggagccccag ccgctagtgc tggtggccgc cgctgctgcc ccagctggag cccgagccgc
       61 cgcctctgcg tccgcgcgtc gctgcttccc agggcggcgg tatgctgggg aaaggagtag
      121 tcggcggtgg cggcggcacc aaggccccca agccctcctt cgtgtcgtac gtacgccctg
      181 aggaaattca cacaaacgaa aaggaagtaa cagagaagga agtaactctt cacttgttgc
      241 caggtgaaca gctgctttgt gaagccagca cagtactgaa gtatgtccag gaagattcct
      301 gtcagcatgg ggtctatggg aggcttgtct gcacagactt caagattgcc ttcttgggtg
      361 atgatgaatc tgcattggat aatgatgaaa ctcaatttaa gaataaggtt ataggagaaa
      421 atgacattac actccactgt gttgatcaga tttatggagt gtttgatgag aaaaagaaaa
      481 ctctctttgg acaactgaag aaataccctg agaagctcat catccactgc aaagaccttc
      541 gagtgttcca gttttgtctg aggtacacaa aggaagagga agtcaaaagg attgtcagtg
      601 gcataattca tcatacccag gctcctaaac tgcttaaacg attatttctg ttttcctatg
      661 cgactgctgc acaaaacaat acagtcactg atcccaagaa ccataccgta atgtttgaca
      721 cacttaagga ctggtgttgg gaactggaac ggaccaaagg caacatgaag tacaaagcag
      781 tgagtgtcaa cgaaggctat aaagtctgtg agagattgcc agcatacttt gttgtcccca
      841 cccctcttcc tgaagagaat gtgcagcgct ttcagggtca tggcatacca atatggtgtt
      901 ggtcctgcca caatggaagt gcccttttga aaatgtcagc actgcccaaa gaacaggatg
      961 acggcatttt acaaatccaa aagagcttct tagatggaat ttacaagacc atccacaggc
     1021 caccctatga aattgttaaa acggaagacc tgtcaagcaa cttcctgtcc ctgcaggaaa
     1081 tccagactgc atactctaaa tttaaacagc tatttctgat agataacagt actgaatttt
     1141 gggacacaga tataaaatgg ttttctctgt tggaaagtag cagctggctt gacataatca
     1201 gacgttgcct gaaaaaagca atagagatta cagaatgtat ggaagcacaa aacatgaatg
     1261 ttcttctttt agaggagaat gcatccgacc tctgctgtct catttcctct ctggtgcaac
     1321 tgatgatgga cccccactgc agaaccagaa ttggtttcca gagcctcatc caaaaggagt
     1381 gggtcatggg tggccactgt ttcttggatc gctgcaacca tctccgccag aacgacaaag
     1441 aggaggttcc tgtgttcctg cttttcctag attgtgtctg gcagctggtg caccagcatc
     1501 ccccggcatt tgaattcaca gagacttacc tgactgtttt gtcagatagc ctgtatatac
     1561 ctatttttag caccttcttc ttcaattcac ctcatcaaaa agatactaac atgggtagag
     1621 aaggccagga tacacaaagc aagcctttga atctgctcac cgtgtgggat tggtcggtgc
     1681 agtttgaacc caaagcccag acattgctca aaaaccctct ttatgtggaa aagccaaaac
     1741 tggacaaagg ccaacggaaa ggaatgcgct tcaaacatca acgacaactt tctttgccac
     1801 ttacacaatc taagtcatct cccaaaagag gatttttcag ggaagaaaca gatcatttaa
     1861 ttaaaaacct tctgggcaag agaattagca aacttattaa ttcttctgat gagctccaag
     1921 acaactttcg agagttctat gacagctggc atagcaagtc cactgactac catggtttgt
     1981 tgttaccgca tatcgagggg cccgaaatca aagtctgggc ccagcgctac ctacgttgga
     2041 ttccagaagc ccaaatccta ggtggtggcc aagtggccac tctgagcaaa ctcttggaaa
     2101 tgatggagga agtccagagt ttacaagaga agatcgacga gagacaccac agccagcagg
     2161 ccccccaggc tgaggccccc tgcctgctga ggaactctgc ccgcctctcg tctttgtttc
     2221 ctttcgctct gctccagcga cattcctcta agcccgtctt acccaccagt ggctggaaag
     2281 ctttgggaga tgaagacgat ttggccaaac gagaagatga gttcgtggac ctaggggatg
     2341 tgtgacctgt ttgttgagtg attgtgaaag aggaatgtgg gagattggga cagctgatcc
     2401 ctggatttgt gtcacgctac agctcatgct ggctgggtcc ttagcccggc actccgttag
     2461 aataaacctg ggccttcggg aaaagaggtg gctctcatta tttttcatga ttctaaaaga
     2521 ctatgcaatt aaaaccgcat ctgtagtatt actaattgga aggaattatt acttgacccg
     2581 taatagggtt gtggccgttt tctgatgcct aagtattata cagagcccac aatggccagt
     2641 ttactaccag aaagggcttc agtaagatat tcttggactt gatactttct tcagatcctc
     2701 tttgtgccaa gataatttat ccagtcattg ggaatagtaa gtttctgtgt aacccatctc
     2761 aattatagaa gcaagttcag ctttatgtat ttgtatgggg agttgaagat tcagatagag
     2821 gtattaagat gtgtggcatt tacttaaacc atcacatttt tttctttcta cgcccccttg
     2881 cctgtaaaac acctgggaag ttccactggt gtcatccatc ctgatgcttc agaccaccct
     2941 cccttcttca cagaccgtgt cactttgcct gtgggtgggg gctagccagc caccaccctc
     3001 ttttctgtgc tgccagcccc aggtcttcct ccgcctgctc cacaccactc gccgctgtcc
     3061 ctctgcactc cctgccttgg tgcgtgtagt cccagtgtct cactgccaaa cctcttggtt
     3121 acgctgcggg gatctgtttc tttgcctgag atccttcctg aggagcgtcc attcctctgg
     3181 agtctctcct tgtttggaac aaatcgcttc gcctttttct acttgcctgc tgaagctttg
     3241 gagcacttgt gattgcagtt ttctgccgca acccctgagc cgagttcctc acattctttt
     3301 acctttatgg actgatggga ttgggtcact tttgaatgtg gctttcatag gaaagcagct
     3361 taaacataaa tatcagaagt gatgattatc atatgatacc tcagtgattt taaaagccat
     3421 agaagaaact tgactatgcc tggtcacctt cttggatctg ctgtctaaat gatatatata
     3481 tgatatatat gtgatatata tatatcatat atatgatata tatatatata tcacatatat
     3541 atgatatata tatgatatat atatatcaca tatatatgat atatatatca tatatatgat
     3601 atatattttt tttaatgcag gaaagtatac tttgtaagga gcagattttt ttgttctcag
     3661 tggaaccctg tcaaatcgca taaaagagga aaaaaacaaa actcattaga atgttttaaa
     3721 ttgaatgttc gccttttaca tatatttgct cttcagtatg gatcccaatt tgaatgttac
     3781 atgttcggaa aaactttcag ttgctcaagg gcaataagaa aatttgaggc cgggtgtggt
     3841 ggctcacgcc tgtaatccca gcactttggg aggctcaggt gggcgaattg cttgagccca
     3901 ggagttcgag accagccggg gcaacatggc aaaaccctgt ctctactaaa aatacaaaaa
     3961 ttagctgggt gtggtggtgc atgcctgtag tcccagctac tcgggaggct gaggtgggag
     4021 gatcccgtga gcctgggagg tggagtttgc agtgagctaa gatcgtgcca ctgcactccg
     4081 gcctgggtga tggagcaaga cctcgtctca gaaaattgga aactattgac taagagaagt
     4141 ttctaggttt gcactgaatt gtcttttgta catacagtga attgttttgc tgttctcccc
     4201 actccatatt aatgcaggag ccaggttggt ctgttaggat gaacaaaggt tgaggggagg
     4261 gcaggattcg tgcatctggg ggccaaacac atgttccgtc ttgattgcct taagagttac
     4321 tagcgaggtc agtgttaggc ttgcaatagg gattttaaaa tacactaact agttccttag
     4381 ctaccttcac atacattcta taggccttct taaattagca ctaacctcca cttccttctc
     4441 tgccccattg cctcccaaat atgctatgga gctatttttg ttaccacgtt ataacgtgaa
     4501 tatttataca gtagcctctt caggctttgt aattttcatt ccaaaaatgc ccggtgtgat
     4561 gctttacact ctacaaagta tggtttaaag gcacaaggtc atggcctttg tcatagcagt
     4621 tgaatgtgca ttgacatatt tttctatgat tttttaaaat tacaatagaa aaataagctg
     4681 ttgtaacgtg taaggtcatg acaatttttg tatttatatt tgaaatcaga tttctataac
     4741 tcgtatttgt gtacagaatt ctcaatggat ttatatattg tgaaattttt atctgagatt
     4801 gggatgtgga ttatgcttaa cagtgagagc tgaaatgaga ccatttactt tgtttaaaat
     4861 gctgtactgt gcaagtttgg aaatgtaaat taatttactg tatataatat cttgagtttg
     4921 tttatacctc caagttttta cactgaagat aaactagctt taattcaaaa cttttttttt
     4981 ctttataagg gaataagctg ttgagctaaa cctgtatact tgtgcttttt attttctgga
     5041 tgcacaatga aagtttatac ttgtatctca ctgcatcata tctgattgca gaaattaaag
     5101 cacaatttac aagcaa
//
LOCUS       NM_001040448             485 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens defensin beta 131A (DEFB131A), mRNA.
ACCESSION   NM_001040448
VERSION     NM_001040448.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 485)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 485)
  AUTHORS   Kim JH, Kim KH, Kim HJ, Lee J and Myung SC.
  TITLE     Expression of Beta-Defensin 131 Promotes an Innate Immune Response
            in Human Prostate Epithelial Cells
  JOURNAL   PLoS One 10 (12), e0144776 (2015)
   PUBMED   26649771
  REMARK    GeneRIF: DEFB131 induces cytokine and chemokine upregulation through
            the TLR2/NF-kappaB signaling pathway in RWPE-1 cells during
            bacterial infection and promotes an innate immune response
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 485)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
  REMARK    GeneRIF: The protein encoded by this gene is thought to display
            antimicrobial activity.
REFERENCE   4  (bases 1 to 485)
  AUTHORS   Kao CY, Chen Y, Zhao YH and Wu R.
  TITLE     ORFeome-based search of airway epithelial cell-specific novel human
            [beta]-defensin genes
  JOURNAL   Am J Respir Cell Mol Biol 29 (1), 71-80 (2003)
   PUBMED   12600824
REFERENCE   5  (bases 1 to 485)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279858.1117.1, AF529414.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142348,
            SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000334879.2/ ENSP00000335538.1
            Protein has antimicrobial activity :: PMID: 16033865
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC116655.7 and AF529414.1.
            On Apr 30, 2021 this sequence version replaced NM_001040448.2.
            Summary: Defensins are cysteine-rich cationic polypeptides that are
            important in the immunologic response to invading microorganisms.
            The antimicrobial protein encoded by this gene is secreted and is a
            member of the beta defensin protein family. Beta defensin genes are
            found in several clusters throughout the genome, with this gene
            mapping to a cluster at 4p16. [provided by RefSeq, Nov 2014].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
FEATURES             Location/Qualifiers
     source          1..485
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.1"
     gene            1..485
                     /gene="DEFB131A"
                     /gene_synonym="DEFB-31; DEFB131"
                     /note="defensin beta 131A"
                     /db_xref="GeneID:644414"
                     /db_xref="HGNC:HGNC:18108"
     misc_feature    88..90
                     /gene="DEFB131A"
                     /gene_synonym="DEFB-31; DEFB131"
                     /note="upstream in-frame stop codon"
     CDS             121..333
                     /gene="DEFB131A"
                     /gene_synonym="DEFB-31; DEFB131"
                     /note="beta-defensin 131; defensin beta 131; defensin, beta
                     31; beta-defensin 31; beta-defensin 131A"
                     /codon_start=1
                     /product="beta-defensin 131A precursor"
                     /protein_id="NP_001035538.2"
                     /db_xref="CCDS:CCDS43213.1"
                     /db_xref="GeneID:644414"
                     /db_xref="HGNC:HGNC:18108"
                     /translation="MRVLFFVFGVLSLMFTVPPARSFISNDECPSEYYHCRLKCNADEH
                     AIRYCADFSICCKLKIIEIDGQKKW"
     sig_peptide     121..186
                     /gene="DEFB131A"
                     /gene_synonym="DEFB-31; DEFB131"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     187..330
                     /gene="DEFB131A"
                     /gene_synonym="DEFB-31; DEFB131"
                     /product="beta-defensin 131A"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     16033865]"
ORIGIN
        1 cttgctcctg aaaggttcaa taatcactca acaactcacc tcttcagaga actgaatgta
       61 cacagaagtc ctcttcatct cagctactga ttctctctaa cctgctttac ctattcaacc
      121 atgagggtct tgttttttgt ctttggagtc ctttccttga tgttcacagt tcctccagcc
      181 agaagcttca tttctaatga tgaatgtcct tcagaatatt atcattgcag actgaagtgc
      241 aatgctgatg aacatgcaat tagatactgt gctgacttca gcatctgctg caaactgaag
      301 atcattgaaa ttgacggaca aaagaagtgg tgaaaattct aactccatct tcttcagact
      361 ccgggacaaa aaacatgtct taaactctct tatctatgaa taattaacat gatagatgaa
      421 aattattata attgcatgtt tagatggtca ggtgaaaatg aatataaatt ttataaatgc
      481 ttcca
//
LOCUS       NM_001040450            9250 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens MINDY lysine 48 deubiquitinase 2 (MINDY2), transcript
            variant 1, mRNA.
ACCESSION   NM_001040450
VERSION     NM_001040450.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9250)
  AUTHORS   Abdul Rehman SA, Armstrong LA, Lange SM, Kristariyanto YA, Grawert
            TW, Knebel A, Svergun DI and Kulathu Y.
  TITLE     Mechanism of activation and regulation of deubiquitinase activity in
            MINDY1 and MINDY2
  JOURNAL   Mol Cell 81 (20), 4176-4190 (2021)
   PUBMED   34529927
  REMARK    GeneRIF: Mechanism of activation and regulation of deubiquitinase
            activity in MINDY1 and MINDY2.
REFERENCE   2  (bases 1 to 9250)
  AUTHORS   Kristariyanto YA, Abdul Rehman SA, Weidlich S, Knebel A and Kulathu
            Y.
  TITLE     A single MIU motif of MINDY-1 recognizes K48-linked polyubiquitin
            chains
  JOURNAL   EMBO Rep 18 (3), 392-402 (2017)
   PUBMED   28082312
REFERENCE   3  (bases 1 to 9250)
  AUTHORS   Abdul Rehman SA, Kristariyanto YA, Choi SY, Nkosi PJ, Weidlich S,
            Labib K, Hofmann K and Kulathu Y.
  TITLE     MINDY-1 Is a Member of an Evolutionarily Conserved and Structurally
            Distinct New Family of Deubiquitinating Enzymes
  JOURNAL   Mol Cell 63 (1), 146-155 (2016)
   PUBMED   27292798
REFERENCE   4  (bases 1 to 9250)
  AUTHORS   Starnawska A, Demontis D, McQuillin A, O'Brien NL, Staunstrup NH,
            Mors O, Nielsen AL, Borglum AD and Nyegaard M.
  TITLE     Hypomethylation of FAM63B in bipolar disorder patients
  JOURNAL   Clin Epigenetics 8, 52 (2016)
   PUBMED   27175219
  REMARK    GeneRIF: Results identified FAM63B hypomethylation in bipolar
            disorder patients and data support that FAM63B is a shared
            epigenetic risk gene for bipolar disorder and schizophrenia.
            Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.159199.1,
            SRR1660809.78983.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000559228.6/ ENSP00000452885.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090515.2, AK075319.1 and CB321913.1.
            On Nov 22, 2018 this sequence version replaced NM_001040450.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..9250
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3-q22.1"
     gene            1..9250
                     /gene="MINDY2"
                     /gene_synonym="FAM63B"
                     /note="MINDY lysine 48 deubiquitinase 2"
                     /db_xref="GeneID:54629"
                     /db_xref="HGNC:HGNC:26954"
                     /db_xref="MIM:618408"
     CDS             95..1960
                     /gene="MINDY2"
                     /gene_synonym="FAM63B"
                     /EC_number="3.4.19.12"
                     /note="isoform a is encoded by transcript variant 1;
                     protein FAM63B; deubiquitinating enzyme MINDY-2; ubiquitin
                     carboxyl-terminal hydrolase MINDY-2; family with sequence
                     similarity 63 member B; MINDY deubiquitinase 2"
                     /codon_start=1
                     /product="ubiquitin carboxyl-terminal hydrolase MINDY-2
                     isoform a"
                     /protein_id="NP_001035540.1"
                     /db_xref="CCDS:CCDS42046.1"
                     /db_xref="GeneID:54629"
                     /db_xref="HGNC:HGNC:26954"
                     /db_xref="MIM:618408"
                     /translation="MESSPESLQPLEHGVAAGPASGTGSSQEGLQETRLAAGDGPGVWA
                     AETSGGNGLGAAAARRSLPDSASPAGSPEVPGPCSSSAGLDLKDSGLESPAAAEAPLRG
                     QYKVTASPETAVAGVGHELGTAGDAGARPDLAGTCQAELTAAGSEEPSSAGGLSSSCSD
                     PSPPGESPSLDSLESFSNLHSFPSSCEFNSEEGAENRVPEEEEGAAVLPGAVPLCKEEE
                     GEETAQVLAASKERFPGQSVYHIKWIQWKEENTPIITQNENGPCPLLAILNVLLLAWKV
                     KLPPMMEIITAEQLMEYLGDYMLDAKPKEISEIQRLNYEQNMSDAMAILHKLQTGLDVN
                     VRFTGVRVFEYTPECIVFDLLDIPLYHGWLVDPQIDDIVKAVGNCSYNQLVEKIISCKQ
                     SDNSELVSEGFVAEQFLNNTATQLTYHGLCELTSTVQEGELCVFFRNNHFSTMTKYKGQ
                     LYLLVTDQGFLTEEKVVWESLHNVDGDGNFCDSEFHLRPPSDPETVYKGQQDQIDQDYL
                     MALSLQQEQQSQEINWEQIPEGISDLELAKKLQEEEDRRASQYYQEQEQAAAAAAAAST
                     QAQQGQPAQASPSSGRQSGNSERKRKEPREKDKEKEKEKNSCVIL"
     misc_feature    95..412
                     /gene="MINDY2"
                     /gene_synonym="FAM63B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBR6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    374..376
                     /gene="MINDY2"
                     /gene_synonym="FAM63B"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NBR6.2); phosphorylation site"
     misc_feature    449..631
                     /gene="MINDY2"
                     /gene_synonym="FAM63B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBR6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1613..1771
                     /gene="MINDY2"
                     /gene_synonym="FAM63B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBR6.2);
                     Region: Ubiquitin-binding domain (UBD).
                     /evidence=ECO:0000305|PubMed:27292798"
     misc_feature    1718..1720
                     /gene="MINDY2"
                     /gene_synonym="FAM63B"
                     /note="Ubiquitin-binding.
                     /evidence=ECO:0000250|UniProtKB:Q8N5J2; propagated from
                     UniProtKB/Swiss-Prot (Q8NBR6.2); other site"
     misc_feature    1727..1732
                     /gene="MINDY2"
                     /gene_synonym="FAM63B"
                     /note="Ubiquitin-binding.
                     /evidence=ECO:0000250|UniProtKB:Q8N5J2; propagated from
                     UniProtKB/Swiss-Prot (Q8NBR6.2); other site"
     misc_feature    1739..1741
                     /gene="MINDY2"
                     /gene_synonym="FAM63B"
                     /note="Ubiquitin-binding.
                     /evidence=ECO:0000250|UniProtKB:Q8N5J2; propagated from
                     UniProtKB/Swiss-Prot (Q8NBR6.2); other site"
     misc_feature    1760..1957
                     /gene="MINDY2"
                     /gene_synonym="FAM63B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBR6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      9226..9231
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MINDY2"
                     /gene_synonym="FAM63B"
                     /note="hexamer: AATAAA"
     polyA_site      9250
                     /gene="MINDY2"
                     /gene_synonym="FAM63B"
                     /note="major polyA site"
ORIGIN
        1 gctgttgctg ccaatacagc tgtcatggcg tccaaggcgc tggctgcgga gaagtggccg
       61 cggtctccat agagctgggg gcgggcggcc cggtatggag agcagccccg agagcctgca
      121 gccgctagaa cacggggtgg cggccgggcc agcgtcaggg acaggttctt cgcaggaagg
      181 gctacaggag accaggctcg ccgctggtga tggtcctggg gtatgggcgg cggagaccag
      241 cggcgggaat gggctggggg cggcggccgc caggaggagc ctcccggact cggcttctcc
      301 cgcgggctct cctgaggttc ccggaccctg cagctcctcc gcgggtttgg acttgaagga
      361 cagtggtttg gagagtcctg ctgccgccga ggcgcctctg agagggcagt acaaggtgac
      421 cgcctccccg gagacagccg tggccggagt gggtcatgag ttgggtaccg ccggagacgc
      481 gggagcccgc ccggatctcg ccggcacctg ccaagcagaa ctgaccgccg ccggctccga
      541 agagcccagc agcgccggcg gcctcagcag cagttgcagc gacccgagcc ctcctgggga
      601 atctccgagc ctggactctc tggagtcgtt ctctaacctg cattcttttc ccagtagctg
      661 cgagttcaat agtgaggagg gagcggagaa cagggtccct gaggaggagg agggcgcggc
      721 ggtgttgccc ggggctgttc ctctgtgcaa ggaggaggag ggggaggaga ccgctcaggt
      781 gctggcggcc tccaaggaac gcttcccggg acaatctgtg tatcacatca agtggatcca
      841 gtggaaggaa gagaacacac ccatcatcac ccagaatgag aacggaccct gccccttgct
      901 ggccatcctc aatgttttgc tcctggcctg gaaggtgaaa cttccaccga tgatggaaat
      961 cataactgct gagcagctga tggaatattt aggagattac atgcttgatg caaagccaaa
     1021 agaaatttca gaaattcaac gtttaaatta tgaacagaat atgagtgatg ccatggcaat
     1081 tttgcacaaa ctacagacag gcctggatgt aaatgtaaga ttcactggtg ttcgagtgtt
     1141 tgaatataca ccagaatgca tagtatttga tcttcttgat attcctttgt accatgggtg
     1201 gttagtagac cctcagattg atgacattgt aaaagctgtt ggtaactgca gctacaacca
     1261 actagtggag aagatcatct cttgtaaaca gtcagacaat agtgagctgg ttagtgaagg
     1321 ctttgtagct gagcagtttc taaataacac agccactcaa ctgacatacc atggattatg
     1381 tgaactaact tcaacggttc aggaaggaga actttgtgtg ttctttcgga ataatcattt
     1441 tagcaccatg accaaataca agggtcaact gtatttgttg gtaacggacc aggggtttct
     1501 tactgaagag aaagttgttt gggaaagcct acacaacgta gatggtgatg gaaatttctg
     1561 tgactcagaa tttcatcttc gacctccttc agatcctgaa actgtataca aaggacaaca
     1621 agatcagata gatcaggatt atcttatggc attatctcta caacaagaac agcagagcca
     1681 agagatcaat tgggaacaaa tcccggaagg aatcagtgat ttggaactag caaagaaact
     1741 ccaagaggaa gaggacagac gggcttctca atactatcag gaacaggaac aagcagcagc
     1801 tgctgctgct gctgcttcta cacaggctca gcagggccag ccagcacaag cctctccatc
     1861 aagtggaaga caatctggga atagtgaacg taaacggaag gaaccacgag aaaaagataa
     1921 agaaaaagaa aaggaaaaaa atagctgtgt tattttgtaa caagtgttgg cttctgttgg
     1981 aaccacctat atgtcttgag aaacaaaacc acaggaggaa aggaagaaaa accgatcaat
     2041 accgtctgtg cctgatttcc taatggattt tgttcgtttt ttcaggggaa cggttgttac
     2101 ttagttacaa tcagactttt tcaagtcaca caatacactc tttatgagct ggagtttcat
     2161 gttacaagtt ggaaatgctg tgtgttgaca ttcatgaaaa atactgcact tgtagccaga
     2221 ttagcaaatc acagcaaatt ttgtgtcata gtgacattca taactcatat cagttagtaa
     2281 gctattatat cttctgttct aacaatgaat ggaggtaatt gatttagtct gattccttcc
     2341 tgaaatctaa atattagcac aatagtttct gaaattttac aatgttaaat tatgatctaa
     2401 ttcatgagaa accacgggtt taacataggg attcaaaaaa acaaaaacaa aagaatagga
     2461 ataaataacc cttaattgta tattggacta gttcagccct taaacagctt tacctttatt
     2521 taggaatgta cattttaggt attatcttga tcatggagct tagttttaat ttagatagca
     2581 aaaataaaga tttgtatttc ttttccaata gcaaaaagtt acataacact aatacttata
     2641 acctatcaat atcagatatt aatgactttg tagtgttgta aaattttgag gaattttgga
     2701 gtctttatca taggtaacct ggaccacagt tactatttat tgacaatgtg attgagtgta
     2761 tggaggaaag cacagtggat gctaggcttt gtaaatatgg ggatgtagaa aagcagatag
     2821 ttcagtgtct acctttttct agaactacct tgaaccttaa attttaagtc atgttcattg
     2881 ctagaaaatt aaatgtactt attaaaacca atgaaaaagc acatttctga aatgaagtta
     2941 gagataatct ctgtgtctta taaaaagaca ttaataaaaa tctgaaaggg ccgggcgcag
     3001 tggctcacgc ctgtaatccc aacattttgg gaggccaagg tgggcggatc atctgaggcc
     3061 aggagttcga gaccagcctg gccagcatgg tgaaaccctg tctctactaa aaatacaaaa
     3121 aatcagcctg gcatggtggt gcgtgcctgt agtcccagct actcagggct gaggcaggag
     3181 aattgcttga acccggcagg cagaggttgc agtgagccga gatcgccctg ctgcactcca
     3241 gcctgggtga cagagggaga ctccgtctca aaaaaaaaaa agtctgagag tagctaagaa
     3301 tttatgtaaa agcaatcaga gtttttaatt tatgggaacc aaataaaact ataacctcat
     3361 agtgtttata agaactcaga aataatattt atttaacttt attatgaggc cacacatatt
     3421 ttcctgtgtt tctatatata gtttggaaaa ctatccttaa tagtctgttt tatatgcctt
     3481 atatttaaaa gtttgtttta gttattttga aagactattg ctgctgcaaa tagttgtgtg
     3541 ctttacattc taagcttcag tacatttatt taagagcatc ataatctgac ctgagcatcc
     3601 acttggagag tgtttttttt gtgtgtggtc tggggtgaca aaagaccaca aaaatgtgtg
     3661 gtctggattt tttcaactat gtcattaact ttatgatcca agaccagtta taggatgaat
     3721 ctgtatgtaa aaatagagtc ttatttatgg aaggaattat tctaagggaa aaatccaggg
     3781 tcaagctgta tcttttatgt cctttatatt gcatgtctat ttctgttaca caatttgtta
     3841 tttcttcaaa tttcctatgg tagcatgata aatcatcaaa gaacctgttt gggatataaa
     3901 actctgatag aaaatattta atgagtatct tgattataac ctagaatatg tatacgttag
     3961 taaaataacc agatatacta cagaactctc tattggctca aacaggttga cctcaatcca
     4021 agtttactct tgatatcact ctgttggctg aaggaggtaa ctcaaacctc agggtttgtt
     4081 tttcccggga cagatagtag tgatagtgca ttatatttga ataagaaaaa caaaccagta
     4141 taccttgaga aattttaaaa agcatagttg aggcatattt tttcataatt atatacttat
     4201 ctgtttattg cccatggaaa atatatgtgt agaagtattt cttctgttat ttgttactat
     4261 cttcttaatt tgttccaaag aaaatgctgc catactgcat tccctctgga aggaaacaaa
     4321 acaaaacaaa actcactcaa aaccagcagt gctgctatca gataagtaga tgtcaatgta
     4381 tacttacaag gaaaaactaa aaaatgtaat gtgttaattc agcctttttc tatgtaatat
     4441 ttccaagtca gactttctta cattcctgga atttactttg atataccaag aataataatg
     4501 ataaaatgtt tgctttgatt actgtggggg gaaagatgaa atgttcaatt gtattaaaac
     4561 aaacaagctt ttcagagata ctggtttcct gcccttgaag ggtataaaga atttagatca
     4621 tgcctgtaat cccagtactt tgggaggccg aggcaggtgg atcacctgag atcaggagtt
     4681 cgagaccagc ctggccaaca tggcaaaacc ctgtctctac taaaaataca ataattagcc
     4741 aggcatggtg gcgggcacct gtcatcccag ctacttggga ggctgaggca ggagaatcgc
     4801 ttgaacccag gaggcagtga ttgcagtgag ctgagatagc accactgcat gcaagcctgg
     4861 gcaatagagc gagactccgt ctcaaaaaaa aaaaaaaaaa aaaaattaga gctattgtgt
     4921 ctttattttc ttaaattttg cccaaggtaa cgttatatat cccaccactt cattgctggt
     4981 ttgggtacat aggattttga aagtggtata ttaaagtctt tccttccaag tattttgtaa
     5041 tacttgaaaa ttcttagatg tatactgcta acaaaagtta gaacttaaac atttttgttt
     5101 ttatcattta tagcctagat tagggacata tttgcatcaa ccaaatcatc attagatttg
     5161 aaaataggca gatgaatgaa caaatatggt cattgcactt tccttttact ttcagagtct
     5221 aagtatattc cttaaggtta gtaaccagtc tttattaaaa atataaaatt tttcttcatg
     5281 tctaatccca ttgcatccac aatgctgtga tttatagtac atgatcaaca cttaaaagta
     5341 ctttacatat gtgtgtttct gaagcaagtt ttcatgacct ctgttagatt ctcaaaagaa
     5401 ttcagaactt caatttaaga atcaccattt taagaataca tgtgtacata tacacattaa
     5461 gcagtataaa gcagctaaaa ttggcattgg ttttacactg gtgcagtgtg cttaggtaaa
     5521 gtaacttctt ccatgtttca aggtcaggtt cagagttgaa tgaagtgtag atttaaattt
     5581 aggattaggc tttggaatat atcttgtttt tattgtctca catttctgat attgactact
     5641 tatcccatat tctgtttcaa attctttatc atatttcaag ttctttctca tacttcttga
     5701 tcttggctta actaagcaag ttagtatcag agactagttg actgaaccca agattaaaca
     5761 ttttgcactt gcacaaaacc ttcttagcat tttgctttca atgaatcaga aagtcaattc
     5821 actaagagac agatcatgag aggaaagaga actagaggcc aataaataaa ataattgttc
     5881 atatattaat gttcacatgt gaactacata tctaaaatct tggagaaaaa tcaaggcaag
     5941 aatttccaga actgtcctca aatagctcat ttatttaagt tttgttaaaa agcaaaagcg
     6001 aattgattac atttgattaa cttttcctat tccatgcaca agttacctta aaacatgata
     6061 aaaaccttat gggcattacc tatcacacag tacttatgca taaacttata atagtaaaat
     6121 tactaatgtt tgataaaata agatggaggc attacaaata gtctacagtt tgtattttaa
     6181 ggaattggac atgaagaatt ctagatcatt ttgtgtctat aaacccgact ttctatcttg
     6241 ccttgggcaa actttctgtg cctcaatgta ctctttaaat atgtgaagga tgctcttttt
     6301 gattaagtgt tttgcactcc tgaataaagg gcatagtata agcacaaagt atgacttaat
     6361 ttatcacaaa tattacacat cctatgttct tgaatgtgca cacttttttc tcaataacaa
     6421 aatatatctt aagtcagttt ttttaatgct gtcaaaattt gtagaatttt ctttgagtat
     6481 ggcgtgatct cttcccaaat gcattttaca gttttttgtg tgttctatag actatagagt
     6541 caaaatcaag agtattttga gaggatcaga agcatttaaa aatctatttt tttctagtat
     6601 ctttcacaga tctaaatatt tagattctct ttgccttttt ctccatggaa tacggtggta
     6661 tcaaattact aatacagtat ataaacttcg tttgcattgg tggaattcat ttagatctct
     6721 caagtaatat tattttaggg ctatataaat tgtgttttta gtgtaaaatg ttatttgata
     6781 atgtgaagtt aaatcccttt tagaaagtga ctgaaaatgg taaaggaact catcagaatc
     6841 ttagcgttct taagttctct gataatttag tatattttat taatgatgtc caacacctct
     6901 aagattgttg agaaaacatg aagaattgag gttactcttc tcaggtgaca ctttaaatat
     6961 taaaatcaga ggcttcctga acaaaacaaa ttgcaaaata gcgataatgg catgggagag
     7021 gccagatgca ggactctggt aaatttaact tactttgaat atctatctaa attttagttc
     7081 atgcatgttc ttacttaatc ctggtgtttt tgctcttaga tgttagagtt taataaattg
     7141 tgatacgcat atattttttt acatgaagga ttctactttc taattttact tttctgatct
     7201 caagaaaatt aaacttgaaa aacggggtaa aattcttcaa ctattgcctc aagttcagtt
     7261 ttgtcctatt gtcctgagaa aggagattta gacttgtctg cctaacacag gtatttttta
     7321 gggcatcgta ctatcccaga gaaagtgttg agataccatg gcagaaatat aaaacctaag
     7381 ctttgaaccc cagtagactt cttcttctgc cattaagtct ctctttatct gatattctaa
     7441 ggatttcttc aaactactta ataatttgtc accattaact ttaatatcca gttttaatct
     7501 gcactgtaat atcctgcttt gagaagaaag aatgcctcat aaattagaga aggacaaaac
     7561 aaaatgtttt ggaaggtgat cctggctcct ttggctctca taattgtttt atagctgaaa
     7621 ataaaaagtc aggaaactgg cccggtgcgg tggctcatgc ctgtaatccc agcactttgg
     7681 gaggctgagg tgggtggatc acctgaagtc aggagttcga gaccagcctg gccaacatgg
     7741 tgaaaccctg tctctactaa aaatacaaaa aaaattagct gggtgtggtg gcacatgcct
     7801 gtaatcccag ccactgggga ggttgaggcg caagaatcgc ttgaacccgg aaggcagagg
     7861 ttgcagtgag ccaagattgc cccactgcac tccagcctgg gcgactgagc gagactctta
     7921 tatctcaaaa aaaaaaaaaa aaaaaagtca agaaactgaa attcccattt aagttctcaa
     7981 atcagtgatc tgtcaaaata ggccttgtaa ctgaaatacc ttacaaagca gttctaacta
     8041 atgcaatgtg ttttttaaaa atttttaatg aaccttacat tgtgaacata attgcaacat
     8101 gttttaagac aaacagtatt taatccttga agacctgtct tgtatgtctc tcaattttgt
     8161 cagaattttt attattgttt ttcacatatg tgaaataagc agttttttca gggtacatag
     8221 ggtatctttg ttttacagat ttttaaagat gaggttttga aaagccctca gaggtttttg
     8281 ttaaaagact atcttgctta ataaatgaca gcttgttaca gattcacaca ttacaagtag
     8341 gacagtataa caggagattg gtgtgtgaat gctacaaaac agtcagcaaa aggaatcatg
     8401 tttgcttgtg aaacttcaga ggtaccctga aagtcatttc ctaaagctag tgcgtgtgaa
     8461 tcttttcctt gaattgtgca gaataattgg attgaggcac atattttgag gagtagcaag
     8521 tggaatggta taatgactac agagaaaatt atcttgaaat atagcaagga agagaaacaa
     8581 gttttctttc tccactttat tgttggacta attgggtcaa tttgctgtga catatcaaag
     8641 atctctttgt gccaggccaa gactggctac tgagttctca aagcgtttta atatatagat
     8701 tacgtatgag tgcctatttt ttcctcctcc tttcattttt tatcttaata cccattttac
     8761 ttctgaaata attcatctgt tttgctttat gaccagcttt aatttcaatt gaggaataat
     8821 aacaacccta gagattcata ggaaagagca ttgaaataca ttttttgcat aaagatacct
     8881 aaaaccatct acccagctta gggttgaact gaatttctgt gaaataaatt tgttttaaat
     8941 actaattatt ttaaaactac ttaattctta aaaacaatgt catcagtttc aaaactttca
     9001 ctttgggagg atattcctta aaaggcatac atagatggta aagtataaaa tatttctgac
     9061 agaattattc agtattattc aacatttact ttcatgtttg ttattgtacc acaaagatag
     9121 tgtcattgtt gggttaaaat gttggctgtt tttgttaata tacttaaaac tgtaaccagt
     9181 gaataacacc tgtagtattt tttattatag attatatttt atttcaataa actttgatat
     9241 ttagaccaaa
//
LOCUS       NM_001040455            4396 bp    mRNA    linear   PRI 26-JUN-2023
DEFINITION  Homo sapiens SID1 transmembrane family member 2 (SIDT2), mRNA.
ACCESSION   NM_001040455
VERSION     NM_001040455.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4396)
  AUTHORS   Qian D, Cong Y, Wang R, Chen Q, Yan C and Gong D.
  TITLE     Structural insight into the human SID1 transmembrane family member 2
            reveals its lipid hydrolytic activity
  JOURNAL   Nat Commun 14 (1), 3568 (2023)
   PUBMED   37322007
  REMARK    GeneRIF: Structural insight into the human SID1 transmembrane family
            member 2 reveals its lipid hydrolytic activity. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 4396)
  AUTHORS   Xu J, Geng M, Liu H, Pei W, Gu J, Qi M, Zhang Y, Lu K, Song Y, Liu
            M, Hu X, Yu C, He C, Wang L and Gao J.
  TITLE     [Lysosomal membrane protein Sidt2 knockout induces apoptosis of
            human hepatocytes in vitro independent of the autophagy-lysosomal
            pathway]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 43 (4), 637-643 (2023)
   PUBMED   37202201
  REMARK    GeneRIF: [Lysosomal membrane protein Sidt2 knockout induces
            apoptosis of human hepatocytes in vitro independent of the
            autophagy-lysosomal pathway].
REFERENCE   3  (bases 1 to 4396)
  AUTHORS   Leon-Reyes G, Argoty-Pantoja AD, Rivera-Paredez B, Hidalgo-Bravo A,
            Flores YN, Salmeron J and Velazquez-Cruz R.
  TITLE     Interaction between SIDT2 and ABCA1 Variants with Nutrients on HDL-c
            Levels in Mexican Adults
  JOURNAL   Nutrients 15 (2), 370 (2023)
   PUBMED   36678241
  REMARK    GeneRIF: Interaction between SIDT2 and ABCA1 Variants with Nutrients
            on HDL-c Levels in Mexican Adults. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4396)
  AUTHORS   Fujiwara Y, Kabuta C, Sano T, Murayama S, Saito Y and Kabuta T.
  TITLE     Pathology-associated change in levels and localization of SIDT2 in
            postmortem brains of Parkinson's disease and dementia with Lewy
            bodies patients
  JOURNAL   Neurochem Int 152, 105243 (2022)
   PUBMED   34800582
  REMARK    GeneRIF: Pathology-associated change in levels and localization of
            SIDT2 in postmortem brains of Parkinson's disease and dementia with
            Lewy bodies patients.
REFERENCE   5  (bases 1 to 4396)
  AUTHORS   Yi D, Zhang D and He J.
  TITLE     Long non-coding RNA LIFR-AS1 suppressed the proliferation,
            angiogenesis, migration and invasion of papillary thyroid cancer
            cells via the miR-31-5p/SIDT2 axis
  JOURNAL   Cell Cycle 20 (24), 2619-2637 (2021)
   PUBMED   34781815
  REMARK    GeneRIF: Long non-coding RNA LIFR-AS1 suppressed the proliferation,
            angiogenesis, migration and invasion of papillary thyroid cancer
            cells via the miR-31-5p/SIDT2 axis.
REFERENCE   6  (bases 1 to 4396)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction Assessment
            with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (bases 1 to 4396)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR,
            Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez
            S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M,
            Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C,
            Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day
            IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 4396)
  AUTHORS   Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H,
            Elsasser HP, Mann M and Hasilik A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
REFERENCE   9  (bases 1 to 4396)
  AUTHORS   Zhang Z and Henzel WJ.
  TITLE     Signal peptide prediction based on analysis of experimentally
            verified cleavage sites
  JOURNAL   Protein Sci 13 (10), 2819-2824 (2004)
   PUBMED   15340161
REFERENCE   10  (bases 1 to 4396)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY358442.1, AK292501.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000324225.9/ ENSP00000314023.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP005018.1 and AY358442.1.
            On May 17, 2019 this sequence version replaced NM_001040455.1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..4396
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..4396
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="SID1 transmembrane family member 2"
                     /db_xref="GeneID:51092"
                     /db_xref="HGNC:HGNC:24272"
                     /db_xref="MIM:617551"
     misc_feature    414..416
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="upstream in-frame stop codon"
     CDS             522..3020
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /codon_start=1
                     /product="SID1 transmembrane family member 2 precursor"
                     /protein_id="NP_001035545.1"
                     /db_xref="CCDS:CCDS31682.1"
                     /db_xref="GeneID:51092"
                     /db_xref="HGNC:HGNC:24272"
                     /db_xref="MIM:617551"
                     /translation="MFALGLPFLVLLVASVESHLGVLGPKNVSQKDAEFERTYVDEVNS
                     ELVNIYTFNHTVTRNRTEGVRVSVNVLNKQKGAPLLFVVRQKEAVVSFQVPLILRGMFQ
                     RKYLYQKVERTLCQPPTKNESEIQFFYVDVSTLSPVNTTYQLRVSRMDDFVLRTGEQFS
                     FNTTAAQPQYFKYEFPEGVDSVIVKVTSNKAFPCSVISIQDVLCPVYDLDNNVAFIGMY
                     QTMTKKAAITVQRKDFPSNSFYVVVVVKTEDQACGGSLPFYPFAEDEPVDQGHRQKTLS
                     VLVSQAVTSEAYVSGMLFCLGIFLSFYLLTVLLACWENWRQKKKTLLVAIDRACPESGH
                     PRVLADSFPGSSPYEGYNYGSFENVSGSTDGLVDSAGTGDLSYGYQGRSFEPVGTRPRV
                     DSMSSVEEDDYDTLTDIDSDKNVIRTKQYLYVADLARKDKRVLRKKYQIYFWNIATIAV
                     FYALPVVQLVITYQTVVNVTGNQDICYYNFLCAHPLGNLSAFNNILSNLGYILLGLLFL
                     LIILQREINHNRALLRNDLCALECGIPKHFGLFYAMGTALMMEGLLSACYHVCPNYTNF
                     QFDTSFMYMIAGLCMLKLYQKRHPDINASAYSAYACLAIVIFFSVLGVVFGKGNTAFWI
                     VFSIIHIIATLLLSTQLYYMGRWKLDSGIFRRILHVLYTDCIRQCSGPLYVDRMVLLVM
                     GNVINWSLAAYGLIMRPNDFASYLLAIGICNLLLYFAFYIIMKLRSGERIKLIPLLCIV
                     CTSVVWGFALFFFFQGLSTWQKTPAESREHNRDCILLDFFDDHDIWHFLSSIAMFGSFL
                     VLLTLDDDLDTVQRDKIYVF"
     sig_peptide     522..575
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    600..602
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NBJ9.2); glycosylation site"
     misc_feature    681..683
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NBJ9.2); glycosylation site"
     misc_feature    699..701
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NBJ9.2); glycosylation site"
     misc_feature    888..890
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NBJ9.2); glycosylation site"
     misc_feature    942..944
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NBJ9.2); glycosylation site"
     misc_feature    1014..1016
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NBJ9.2); glycosylation site"
     misc_feature    1410..1472
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBJ9.2);
                     transmembrane region"
     misc_feature    1722..1724
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8NBJ9.2); phosphorylation site"
     misc_feature    1728..1730
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8NBJ9.2); phosphorylation site"
     misc_feature    1731..1733
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8NBJ9.2); phosphorylation site"
     misc_feature    1863..1925
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBJ9.2);
                     transmembrane region"
     misc_feature    1947..1949
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NBJ9.2); glycosylation site"
     misc_feature    2007..2009
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NBJ9.2); glycosylation site"
     misc_feature    2019..2081
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBJ9.2);
                     transmembrane region"
     misc_feature    2160..2222
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBJ9.2);
                     transmembrane region"
     misc_feature    2235..2237
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NBJ9.2); glycosylation site"
     misc_feature    2328..2330
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NBJ9.2); glycosylation site"
     misc_feature    2337..2399
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBJ9.2);
                     transmembrane region"
     misc_feature    2415..2477
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBJ9.2);
                     transmembrane region"
     misc_feature    2586..2648
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBJ9.2);
                     transmembrane region"
     misc_feature    2667..2729
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBJ9.2);
                     transmembrane region"
     misc_feature    2760..2822
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBJ9.2);
                     transmembrane region"
     misc_feature    2910..2972
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NBJ9.2);
                     transmembrane region"
     regulatory      4379..4384
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="hexamer: AATAAA"
     polyA_site      4396
                     /gene="SIDT2"
                     /gene_synonym="CGI-40"
                     /note="major polyA site"
ORIGIN
        1 agtgttcgtg cgtcgggacg gcgcgtccgc ccgcccttaa agggcccgca cctcggaaaa
       61 ctcgcagccc agcacggcgt cgggtagcta ccacctatca cgcccctcac tctgcgactc
      121 gccttcctcc gcggccagcc cccgccgccg gctcttcctc cctccccttt cccggcgtct
      181 ccaggctccc ggcaaccagc cgccctcctt ctcacggccc tggcccgggg ctccagggtc
      241 tcaggtcgta ctcagcccct cgcgagctgg gaccccttcc cgtagccagc atcccctccc
      301 tccccgcccc ctcccggccg ccccctcccc tgcggggacc ctgggagcct cttcggggct
      361 cttgggaggg gacatttcct aatctcaggc cggggttaaa gttctggtcc tggtgagatg
      421 ctggaagctg cggccgcagc cgcaacccgt cccggaggtg tcctgtctcc tgtcgccgcc
      481 gccgccgcca ccaccgctgc cactgccgcc ctgccggggc catgttcgct ctgggcttgc
      541 ccttcttggt gctcttggtg gcctcggtcg agagccatct gggggttctg gggcccaaga
      601 acgtctcgca gaaagacgcc gagtttgagc gcacctacgt ggacgaggtc aacagcgagc
      661 tggtcaacat ctacaccttc aaccatactg tgacccgcaa caggacagag ggcgtgcgtg
      721 tgtctgtgaa cgtcctgaac aagcagaagg gggcgccgtt gctgtttgtg gtccgccaga
      781 aggaggctgt ggtgtccttc caggtgcccc taatcctgcg agggatgttt cagcgcaagt
      841 acctctacca aaaagtggaa cgaaccctgt gtcagccccc caccaagaat gagtcggaga
      901 ttcagttctt ctacgtggat gtgtccaccc tgtcaccagt caacaccaca taccagctcc
      961 gggtcagccg catggacgat tttgtgctca ggactgggga gcagttcagc ttcaatacca
     1021 cagcagcaca gccccagtac ttcaagtatg agttccctga aggcgtggac tcggtaattg
     1081 tcaaggtgac ctccaacaag gccttcccct gctcagtcat ctccattcag gatgtgctgt
     1141 gtcctgtcta tgacctggac aacaacgtag ccttcatcgg catgtaccag acgatgacca
     1201 agaaggcggc catcaccgta cagcgcaaag acttccccag caacagcttt tatgtggtgg
     1261 tggtggtgaa gaccgaagac caagcctgcg ggggctccct gcctttctac cccttcgcag
     1321 aagatgaacc ggtcgatcaa gggcaccgcc agaaaaccct gtcagtgctg gtgtctcaag
     1381 cagtcacgtc tgaggcatac gtcagtggga tgctcttttg cctgggtata tttctctcct
     1441 tttacctgct gaccgtcctc ctggcctgct gggagaactg gaggcagaag aagaagaccc
     1501 tgctggtggc cattgaccga gcctgcccag aaagcggtca ccctcgagtc ctggctgatt
     1561 cttttcctgg cagttcccct tatgagggtt acaactatgg ctcctttgag aatgtttctg
     1621 gatctaccga tggtctggtt gacagcgctg gcactgggga cctctcttac ggttaccagg
     1681 gccgctcctt tgaacctgta ggtactcggc cccgagtgga ctccatgagc tctgtggagg
     1741 aggatgacta cgacacattg accgacatcg attccgacaa gaatgtcatt cgcaccaagc
     1801 aatacctcta tgtggctgac ctggcacgga aggacaagcg tgttctgcgg aaaaagtacc
     1861 agatctactt ctggaacatt gccaccattg ctgtcttcta tgcccttcct gtggtgcagc
     1921 tggtgatcac ctaccagacg gtggtgaatg tcacagggaa tcaggacatc tgctactaca
     1981 acttcctctg cgcccaccca ctgggcaatc tcagcgcctt caacaacatc ctcagcaacc
     2041 tggggtacat cctgctgggg ctgcttttcc tgctcatcat cctgcaacgg gagatcaacc
     2101 acaaccgggc cctgctgcgc aatgacctct gtgccctgga atgtgggatc cccaaacact
     2161 ttgggctttt ctacgccatg ggcacagccc tgatgatgga ggggctgctc agtgcttgct
     2221 atcatgtgtg ccccaactat accaatttcc agtttgacac atcgttcatg tacatgatcg
     2281 ccggactctg catgctgaag ctctaccaga agcggcaccc ggacatcaac gccagcgcct
     2341 acagtgccta cgcctgcctg gccattgtca tcttcttctc tgtgctgggc gtggtctttg
     2401 gcaaagggaa cacggcgttc tggatcgtct tctccatcat tcacatcatc gccaccctgc
     2461 tcctcagcac gcagctctat tacatgggcc ggtggaaact ggactcgggg atcttccgcc
     2521 gcatcctcca cgtgctctac acagactgca tccggcagtg cagcgggccg ctctacgtgg
     2581 accgcatggt gctgctggtc atgggcaacg tcatcaactg gtcgctggct gcctatgggc
     2641 ttatcatgcg ccccaatgat ttcgcttcct acttgttggc cattggcatc tgcaacctgc
     2701 tcctttactt cgccttctac atcatcatga agctccggag tggggagagg atcaagctca
     2761 tccccctgct ctgcatcgtt tgcacctccg tggtctgggg cttcgcgctc ttcttcttct
     2821 tccagggact cagcacctgg cagaaaaccc ctgcagagtc gagggagcac aaccgggact
     2881 gcatcctcct cgacttcttt gacgaccacg acatctggca cttcctctcc tccatcgcca
     2941 tgttcgggtc cttcctggtg ttgctgacac tggatgacga cctggatact gtgcagcggg
     3001 acaagatcta tgtcttctag caggagctgg gcccttcgct tcacctcaag gggccctgag
     3061 ctcctttgtg tcatagaccg gtcactctgt cgtgctgtgg ggatgagtcc cagcaccgct
     3121 gcccagcact ggatggcagc aggacagcca ggtctagctt aggcttggcc tgggacagcc
     3181 atggggtggc atggaacctt gcagctgccc tctgccgagg agcaggcctg ctcccctgga
     3241 acccccagat gttggccaaa ttgctgcttt cttctcagtg ttggggcctt ccatgggccc
     3301 ctgtcctttg gctctccatt tgtccctttg caagaggaag gatggaaggg acaccctccc
     3361 catttcatgc cttgcatttt gcccgtcctc ctccccacaa tgccccagcc tgggacctaa
     3421 ggcctctttt tcctcccata ctcccactcc agggcctagt ctggggcctg aatctctgtc
     3481 ctgtatcagg gccccagttc tctttgggct gtccctggct gccatcactg cccattccag
     3541 tcagccagga tggatggggg tatgagattt tgggggttgg ccagctggtg ccagactttt
     3601 ggtgctaagg cctgcaaggg gcctggggca gtgcgtattc tcttccctct gacctgtgct
     3661 cagggctggc tctttagcaa tgcgctcagc ccaatttgag aaccgccttc tgattcaaga
     3721 ggctgaattc agaggtcacc tcttcatccc atcagctccc agactgatgc cagcaccagg
     3781 actggaggga gaagcgcctc accccttccc ttccttcttt ccaggccctt agtcttgcca
     3841 aaccccagct ggtggccttt cagtgccatt gacactgccc aagaatgtcc aggggcaaag
     3901 gagggatgat acagagttca gcccgttctg cctccacagc tgtgggcacc ccagtgccta
     3961 ccttagaaag gggcttcagg aagggatgtg ctgtttccct ctacgtgccc agtcctagcc
     4021 tcgctctagg acccagggct ggcttctaag tttccgtcca gtcttcaggc aagttctgtg
     4081 ttagtcatgc acacacatac ctatgaaacc ttggagttta caaagaattg ccccagctct
     4141 gggcaccctg gccaccctgg tccttggatc cccttcgtcc cacctggtcc accccagatg
     4201 ctgaggatgg gggagctcag gcggggcctc tgctttgggg atgggaatgt gtttttctcc
     4261 caaacttgtt tttatagctc tgcttgaagg gctgggagat gaggtgggtc tggatctttt
     4321 ctcagagcgt ctccatgcta tggttgcatt tccgttttct atgaatgaat ttgcattcaa
     4381 taaacaacca gactca
//
LOCUS       NM_001040456            1721 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript
            variant 1, mRNA.
ACCESSION   NM_001040456
VERSION     NM_001040456.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1721)
  AUTHORS   Ferretti VA, Canzoneri R, Palma S, Lacunza E, Aldaz CM and Abba MC.
  TITLE     RHBDD2-WWOX protein interaction during proliferative and
            differentiated stages in normal and breast cancer cells
  JOURNAL   Oncol Rep 46 (2) (2021)
   PUBMED   34109992
  REMARK    GeneRIF: RHBDD2WWOX protein interaction during proliferative and
            differentiated stages in normal and breast cancer cells.
REFERENCE   2  (bases 1 to 1721)
  AUTHORS   Palma S, Raffa CI, Garcia-Fabiani MB, Ferretti VA, Zwenger A, Perez
            Verdera PV, Llontop A, Rojas Bilbao E, Cuartero V, Abba MC and
            Lacunza E.
  TITLE     RHBDD2 overexpression promotes a chemoresistant and invasive
            phenotype to rectal cancer tumors via modulating UPR and focal
            adhesion genes
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1866 (8), 165810 (2020)
   PUBMED   32339641
  REMARK    GeneRIF: RHBDD2 overexpression promotes a chemoresistant and
            invasive phenotype to rectal cancer tumors via modulating UPR and
            focal adhesion genes.
REFERENCE   3  (bases 1 to 1721)
  AUTHORS   Canzoneri R, Rabassa ME, Gurruchaga A, Ferretti V, Palma S,
            Isla-Larrain M, Croce MV, Lacunza E and Abba MC.
  TITLE     Alternative splicing variant of RHBDD2 is associated with cell
            stress response and breast cancer progression
  JOURNAL   Oncol Rep 40 (2), 909-915 (2018)
   PUBMED   29901166
  REMARK    GeneRIF: The RHBDD2 subcellular localization was corroborated at the
            Golgi apparatus.
REFERENCE   4  (bases 1 to 1721)
  AUTHORS   Freeman M.
  TITLE     The rhomboid-like superfamily: molecular mechanisms and biological
            roles
  JOURNAL   Annu Rev Cell Dev Biol 30, 235-254 (2014)
   PUBMED   25062361
  REMARK    Review article
REFERENCE   5  (bases 1 to 1721)
  AUTHORS   Bergbold N and Lemberg MK.
  TITLE     Emerging role of rhomboid family proteins in mammalian biology and
            disease
  JOURNAL   Biochim Biophys Acta 1828 (12), 2840-2848 (2013)
   PUBMED   23562403
  REMARK    Review article
REFERENCE   6  (bases 1 to 1721)
  AUTHORS   Lemberg MK.
  TITLE     Sampling the membrane: function of rhomboid-family proteins
  JOURNAL   Trends Cell Biol 23 (5), 210-217 (2013)
   PUBMED   23369641
  REMARK    Review article
REFERENCE   7  (bases 1 to 1721)
  AUTHORS   Lacunza E, Canzoneri R, Rabassa ME, Zwenger A, Segal-Eiras A, Croce
            MV and Abba MC.
  TITLE     RHBDD2: a 5-fluorouracil responsive gene overexpressed in the
            advanced stages of colorectal cancer
  JOURNAL   Tumour Biol 33 (6), 2393-2399 (2012)
   PUBMED   22965880
  REMARK    GeneRIF: Increased RHBDD2 expression in response to the chemotherapy
            is associated with advanced stages of colorectal cancer.
REFERENCE   8  (bases 1 to 1721)
  AUTHORS   Urban S and Dickey SW.
  TITLE     The rhomboid protease family: a decade of progress on function and
            mechanism
  JOURNAL   Genome Biol 12 (10), 231 (2011)
   PUBMED   22035660
  REMARK    Review article Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1721)
  AUTHORS   Abba MC, Lacunza E, Nunez MI, Colussi A, Isla-Larrain M, Segal-Eiras
            A, Croce MV and Aldaz CM.
  TITLE     Rhomboid domain containing 2 (RHBDD2): a novel cancer-related gene
            over-expressed in breast cancer
  JOURNAL   Biochim Biophys Acta 1792 (10), 988-997 (2009)
   PUBMED   19616622
  REMARK    GeneRIF: RHBDD2 over-expression behaves as an indicator of poor
            prognosis and may play a role facilitating breast cancer
            progression.
REFERENCE   10  (bases 1 to 1721)
  AUTHORS   Puente XS, Sanchez LM, Overall CM and Lopez-Otin C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.517063.1,
            SRR3476690.625516.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000006777.11/ ENSP00000006777.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005067.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001040456.2.
            Summary: The protein encoded by this gene is a member of the
            rhomboid family of membrane-bound proteases and is overexpressed in
            some breast cancers. Members of this family are involved in
            intramembrane proteolysis. In mouse, the orthologous protein
            associates with the Golgi body. [provided by RefSeq, Sep 2016].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1721
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..1721
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /note="rhomboid domain containing 2"
                     /db_xref="GeneID:57414"
                     /db_xref="HGNC:HGNC:23082"
                     /db_xref="MIM:615203"
     CDS             50..1144
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /note="isoform a is encoded by transcript variant 1;
                     rhomboid domain-containing protein 2; rhomboid,
                     veinlet-like 7"
                     /codon_start=1
                     /product="rhomboid domain-containing protein 2 isoform a"
                     /protein_id="NP_001035546.1"
                     /db_xref="CCDS:CCDS43602.1"
                     /db_xref="GeneID:57414"
                     /db_xref="HGNC:HGNC:23082"
                     /db_xref="MIM:615203"
                     /translation="MAASGPGCRSWCLCPEVPSATFFTALLSLLVSGPRLFLLQQPLAP
                     SGLTLKSEALRNWQVYRLVTYIFVYENPISLLCGAIIIWRFAGNFERTVGTVRHCFFTV
                     IFAIFSAIIFLSFEAVSSLSKLGEVEDARGFTPVAFAMLGVTTVRSRMRRALVFGMVVP
                     SVLVPWLLLGASWLIPQTSFLSNVCGLSIGLAYGLTYCYSIDLSERVALKLDQTFPFSL
                     MRRISVFKYVSGSSAERRAAQSRKLNPVPGSYPTQSCHPHLSPSHPVSQTQHASGQKLA
                     SWPSCTPGHMPTLPPYQPASGLCYVQNHFGPNPTSSSVYPASAGTSLGIQPPTPVNSPG
                     TVYSGALGTPGAAGSKESSRVPMP"
     misc_feature    80..142
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NTF9.2);
                     transmembrane region"
     misc_feature    236..298
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NTF9.2);
                     transmembrane region"
     misc_feature    347..409
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NTF9.2);
                     transmembrane region"
     misc_feature    521..583
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NTF9.2);
                     transmembrane region"
     misc_feature    599..661
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NTF9.2);
                     transmembrane region"
     misc_feature    773..895
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NTF9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    998..1141
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6NTF9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1701..1706
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /note="hexamer: AAGAAA"
     polyA_site      1721
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /note="major polyA site"
ORIGIN
        1 agaggaccgg cagccggcgt cgaggcgggg cgcgggaacg acggcggcca tggcggcctc
       61 ggggcccggg tgtcgcagct ggtgcttgtg tcccgaggtg ccatccgcca ccttcttcac
      121 tgcgctgctc tcgctgctgg tttccgggcc tcgcctgttc ctgctgcagc agcccctggc
      181 gccctcgggc ctcacgctga agtccgaggc ccttcgcaac tggcaagttt acaggctggt
      241 aacctacatc tttgtctacg agaatcccat ctccctgctc tgcggcgcta tcatcatctg
      301 gcgctttgct ggcaatttcg agagaaccgt gggcaccgtc cgccactgct tcttcaccgt
      361 gatcttcgcc atcttctccg ctatcatctt cctgtcattc gaggctgtgt catcactgtc
      421 aaagctgggg gaagtggagg atgccagagg tttcacccca gtggcctttg ccatgctggg
      481 agtcaccacc gtccgttctc ggatgaggcg ggccctggtg tttggcatgg ttgtgccctc
      541 agtcctggtt ccgtggctcc tgctgggtgc ctcgtggctc attccccaga cctctttcct
      601 cagtaatgtc tgcgggctgt ccatcgggct ggcctatggc ctcacctact gctattccat
      661 cgacctctca gagcgagtgg cactgaagct cgatcagacc ttccccttca gcctgatgag
      721 gaggatatcc gtgttcaagt acgtctcagg gtcttcagcc gagaggaggg cagcccagag
      781 ccggaaactg aacccggtgc ctggctccta ccccacacag agctgccacc ctcacctgtc
      841 cccaagccac cctgtgtccc agacgcagca cgccagtggt cagaagctgg cctcctggcc
      901 ctcctgcacc cccgggcaca tgcccacctt gcctccgtac cagcctgcct ccggcctgtg
      961 ctatgtgcag aaccactttg gtccaaaccc cacctcctcc agtgtctacc cagcttctgc
     1021 gggcacctcc ctgggcatcc agccccccac gcctgtgaac agccctggca cggtgtattc
     1081 tggggccttg ggcacaccag gggctgcagg ctccaaggag tcctccaggg tccccatgcc
     1141 ctgagagaat ttctagggaa gtcatctcac ttggccttct gaaggtcctc cctaagagtc
     1201 tcctgacaaa agttacttat tgaacacctc tatgtgccag gctctgtgtt gggtactttg
     1261 atcaatgccc ctgtttcagt ctcatctgta ctcacggcag ccctgtggag tacggtgtac
     1321 tggcccagct tacagatgca gaaagcgaga cgttctgcca tcagataaag tcacgtggct
     1381 ctttagtaac acggacaagg ctcctcgcca aggaactcgt ggcagaagag ggcagcagtt
     1441 ggcagtagct gccgatgtct gtccccagct ccaccattcc tccctgtggc tgtgccgtgc
     1501 tcgtggtttc agtgtccgtg tgtccatgtg tctgcccttc aggagctcgc agctggtgtg
     1561 cttggcggtc ccaggcctgt gtagtgtctc tcccctgctg cgggcgcccc caccccgatt
     1621 cctctcccca gaagcggtgg gatgggcccc catgaactgc agcagcatgc tgaggtgtcc
     1681 atgttgtctg cctttgtata aagaaacagc ctctgacctg c
//
LOCUS       NM_001040458            4841 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1),
            transcript variant 2, mRNA.
ACCESSION   NM_001040458
VERSION     NM_001040458.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4841)
  AUTHORS   Tedeschi V, Paldino G, Alba J, Molteni E, Paladini F, Scrivo R,
            Congia M, Cauli A, Caccavale R, Paroli M, Di Franco M, Tuosto L,
            Sorrentino R, D'Abramo M and Fiorillo MT.
  TITLE     ERAP1 and ERAP2 Haplotypes Influence Suboptimal
            HLA-B*27:05-Restricted Anti-Viral CD8+ T Cell Responses
            Cross-Reactive to Self-Epitopes
  JOURNAL   Int J Mol Sci 24 (17), 13335 (2023)
   PUBMED   37686141
  REMARK    GeneRIF: ERAP1 and ERAP2 Haplotypes Influence Suboptimal
            HLA-B*27:05-Restricted Anti-Viral CD8+ T Cell Responses
            Cross-Reactive to Self-Epitopes. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4841)
  AUTHORS   Marusina AI, Ji-Xu A, Le ST, Toussi A, Tsoi LC, Li Q, Luxardi G,
            Nava J, Downing L, Leal AR, Kuzminykh NY, Kruglinskaya O, Bruggen
            MC, Adamopoulos IE, Merleev AA, Gudjonsson JE and Maverakis E.
  TITLE     Cell-Specific and Variant-Linked Alterations in Expression of ERAP1,
            ERAP2, and LNPEP Aminopeptidases in Psoriasis
  JOURNAL   J Invest Dermatol 143 (7), 1157-1167 (2023)
   PUBMED   36716917
  REMARK    GeneRIF: Cell-Specific and Variant-Linked Alterations in Expression
            of ERAP1, ERAP2, and LNPEP Aminopeptidases in Psoriasis.
REFERENCE   3  (bases 1 to 4841)
  AUTHORS   Wagner M, Sobczynski M, Jasek M, Pawelczyk K, Porebska I,
            Kusnierczyk P and Wisniewski A.
  TITLE     Down-regulation of ERAP1 mRNA expression in non-small cell lung
            cancer
  JOURNAL   BMC Cancer 23 (1), 383 (2023)
   PUBMED   37101107
  REMARK    GeneRIF: Down-regulation of ERAP1 mRNA expression in non-small cell
            lung cancer. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4841)
  AUTHORS   Paldino G and Fierabracci A.
  TITLE     Shedding new light on the role of ERAP1 in Type 1 diabetes: A
            perspective on disease management
  JOURNAL   Autoimmun Rev 22 (4), 103291 (2023)
   PUBMED   36740089
  REMARK    GeneRIF: Shedding new light on the role of ERAP1 in Type 1 diabetes:
            A perspective on disease management. Review article
REFERENCE   5  (bases 1 to 4841)
  AUTHORS   Hur B, Wong V and Lee ED.
  TITLE     A Comparative Review of Pregnancy and Cancer and Their Association
            with Endoplasmic Reticulum Aminopeptidase 1 and 2
  JOURNAL   Int J Mol Sci 24 (4), 3454 (2023)
   PUBMED   36834865
  REMARK    GeneRIF: A Comparative Review of Pregnancy and Cancer and Their
            Association with Endoplasmic Reticulum Aminopeptidase 1 and 2.
            Review article Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4841)
  AUTHORS   Cui X, Hawari F, Alsaaty S, Lawrence M, Combs CA, Geng W, Rouhani
            FN, Miskinis D and Levine SJ.
  TITLE     Identification of ARTS-1 as a novel TNFR1-binding protein that
            promotes TNFR1 ectodomain shedding
  JOURNAL   J Clin Invest 110 (4), 515-526 (2002)
   PUBMED   12189246
  REMARK    GeneRIF: ARTS-1 has been identified as a novel TNFR1 binding protein
            that promotes TNFR1 shedding.
REFERENCE   7  (bases 1 to 4841)
  AUTHORS   Yamamoto N, Nakayama J, Yamakawa-Kobayashi K, Hamaguchi H, Miyazaki
            R and Arinami T.
  TITLE     Identification of 33 polymorphisms in the adipocyte-derived leucine
            aminopeptidase (ALAP) gene and possible association with
            hypertension
  JOURNAL   Hum Mutat 19 (3), 251-257 (2002)
   PUBMED   11857741
  REMARK    GeneRIF: Association has been confirmed between the Lys528Arg
            polymorphism of the adipocyte-derived leucine aminopeptidase gene
            and essential hypertension.
REFERENCE   8  (bases 1 to 4841)
  AUTHORS   Hattori A, Matsumoto K, Mizutani S and Tsujimoto M.
  TITLE     Genomic organization of the human adipocyte-derived leucine
            aminopeptidase gene and its relationship to the placental leucine
            aminopeptidase/oxytocinase gene
  JOURNAL   J Biochem 130 (2), 235-241 (2001)
   PUBMED   11481040
REFERENCE   9  (bases 1 to 4841)
  AUTHORS   Hattori A, Kitatani K, Matsumoto H, Miyazawa S, Rogi T, Tsuruoka N,
            Mizutani S, Natori Y and Tsujimoto M.
  TITLE     Characterization of recombinant human adipocyte-derived leucine
            aminopeptidase expressed in Chinese hamster ovary cells
  JOURNAL   J Biochem 128 (5), 755-762 (2000)
   PUBMED   11056387
REFERENCE   10  (bases 1 to 4841)
  AUTHORS   Hattori A, Matsumoto H, Mizutani S and Tsujimoto M.
  TITLE     Molecular cloning of adipocyte-derived leucine aminopeptidase highly
            related to placental leucine aminopeptidase/oxytocinase
  JOURNAL   J Biochem 125 (5), 931-938 (1999)
   PUBMED   10220586
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF183569.1, AF222340.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000443439.7/ ENSP00000406304.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA704693.1, DA327238.1,
            AF222340.1 and AC008906.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001040458.2.
            Summary: The protein encoded by this gene is an aminopeptidase
            involved in trimming HLA class I-binding precursors so that they
            can be presented on MHC class I molecules. The encoded protein acts
            as a monomer or as a heterodimer with ERAP2. This protein may also
            be involved in blood pressure regulation by inactivation of
            angiotensin II. Three transcript variants encoding two different
            isoforms have been found for this gene.[provided by RefSeq, Oct
            2010].
            Transcript Variant: This variant (2) differs in the 3' UTR and
            coding sequence compared to variant 1. The resulting isoform (b)
            has a shorter and distinct C-terminus compared to isoform a.
            Variants 2 and 3 both encode the same isoform.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4841
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q15"
     gene            1..4841
                     /gene="ERAP1"
                     /gene_synonym="A-LAP; ALAP; APPILS; ARTS-1; ARTS1; ERAAP;
                     ERAAP1; PILS-AP; PILSAP"
                     /note="endoplasmic reticulum aminopeptidase 1"
                     /db_xref="GeneID:51752"
                     /db_xref="HGNC:HGNC:18173"
                     /db_xref="MIM:606832"
     misc_feature    92..94
                     /gene="ERAP1"
                     /gene_synonym="A-LAP; ALAP; APPILS; ARTS-1; ARTS1; ERAAP;
                     ERAAP1; PILS-AP; PILSAP"
                     /note="upstream in-frame stop codon"
     CDS             104..2929
                     /gene="ERAP1"
                     /gene_synonym="A-LAP; ALAP; APPILS; ARTS-1; ARTS1; ERAAP;
                     ERAAP1; PILS-AP; PILSAP"
                     /note="isoform b precursor is encoded by transcript variant
                     2; aminopeptidase regulator of TNFR1 shedding;
                     puromycin-insensitive leucyl-specific aminopeptidase;
                     aminopeptidase PILS; adipocyte-derived leucine
                     aminopeptidase; endoplasmic reticulum aminopeptidase
                     associated with antigen processing; type 1 tumor necrosis
                     factor receptor shedding aminopeptidase regulator"
                     /codon_start=1
                     /product="endoplasmic reticulum aminopeptidase 1 isoform b
                     precursor"
                     /protein_id="NP_001035548.1"
                     /db_xref="CCDS:CCDS47250.1"
                     /db_xref="GeneID:51752"
                     /db_xref="HGNC:HGNC:18173"
                     /db_xref="MIM:606832"
                     /translation="MVFLPLKWSLATMSFLLSSLLALLTVSTPSWCQSTEASPKRSDGT
                     PFPWNKIRLPEYVIPVHYDLLIHANLTTLTFWGTTKVEITASQPTSTIILHSHHLQISR
                     ATLRKGAGERLSEEPLQVLEHPRQEQIALLAPEPLLVGLPYTVVIHYAGNLSETFHGFY
                     KSTYRTKEGELRILASTQFEPTAARMAFPCFDEPAFKASFSIKIRREPRHLAISNMPLV
                     KSVTVAEGLIEDHFDVTVKMSTYLVAFIISDFESVSKITKSGVKVSVYAVPDKINQADY
                     ALDAAVTLLEFYEDYFSIPYPLPKQDLAAIPDFQSGAMENWGLTTYRESALLFDAEKSS
                     ASSKLGITMTVAHELAHQWFGNLVTMEWWNDLWLNEGFAKFMEFVSVSVTHPELKVGDY
                     FFGKCFDAMEVDALNSSHPVSTPVENPAQIREMFDDVSYDKGACILNMLREYLSADAFK
                     SGIVQYLQKHSYKNTKNEDLWDSMASICPTDGVKGMDGFCSRSQHSSSSSHWHQEGVDV
                     KTMMNTWTLQKGFPLITITVRGRNVHMKQEHYMKGSDGAPDTGYLWHVPLTFITSKSDM
                     VHRFLLKTKTDVLILPEEVEWIKFNVGMNGYYIVHYEDDGWDSLTGLLKGTHTAVSSND
                     RASLINNAFQLVSIGKLSIEKALDLSLYLKHETEIMPVFQGLNELIPMYKLMEKRDMNE
                     VETQFKAFLIRLLRDLIDKQTWTDEGSVSERMLRSQLLLLACVHNYQPCVQRAEGYFRK
                     WKESNGNLSLPVDVTLAVFAVGAQSTEGWDFLYSKYQFSLSSTEKSQIEFALCRTQNKE
                     KLQWLLDESFKGDKIKTQEFPQILTLIGRNPVGYPLAWQFLRKNWNKLVQKFELGSSSI
                     AHMVMGTTNQFSTRTRLEEVKGFFSSLKENGSQLRCVQQTIETIEENIGWMDKNFDKIR
                     VWLQSEKLERM"
     sig_peptide     104..199
                     /gene="ERAP1"
                     /gene_synonym="A-LAP; ALAP; APPILS; ARTS-1; ARTS1; ERAAP;
                     ERAAP1; PILS-AP; PILSAP"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    107..166
                     /gene="ERAP1"
                     /gene_synonym="A-LAP; ALAP; APPILS; ARTS-1; ARTS1; ERAAP;
                     ERAAP1; PILS-AP; PILSAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NZ08.3);
                     transmembrane region"
     misc_feature    311..313
                     /gene="ERAP1"
                     /gene_synonym="A-LAP; ALAP; APPILS; ARTS-1; ARTS1; ERAAP;
                     ERAAP1; PILS-AP; PILSAP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21478864, ECO:0000269|Ref.16;
                     propagated from UniProtKB/Swiss-Prot (Q9NZ08.3);
                     glycosylation site"
     misc_feature    563..565
                     /gene="ERAP1"
                     /gene_synonym="A-LAP; ALAP; APPILS; ARTS-1; ARTS1; ERAAP;
                     ERAAP1; PILS-AP; PILSAP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21478864, ECO:0000269|Ref.16;
                     propagated from UniProtKB/Swiss-Prot (Q9NZ08.3);
                     glycosylation site"
     misc_feature    1343..1345
                     /gene="ERAP1"
                     /gene_synonym="A-LAP; ALAP; APPILS; ARTS-1; ARTS1; ERAAP;
                     ERAAP1; PILS-AP; PILSAP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218, ECO:0000269|Ref.16;
                     propagated from UniProtKB/Swiss-Prot (Q9NZ08.3);
                     glycosylation site"
     misc_feature    1415..1417
                     /gene="ERAP1"
                     /gene_synonym="A-LAP; ALAP; APPILS; ARTS-1; ARTS1; ERAAP;
                     ERAAP1; PILS-AP; PILSAP"
                     /note="Transition state stabilizer. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q9NZ08.3); other
                     site"
     misc_feature    2381..2383
                     /gene="ERAP1"
                     /gene_synonym="A-LAP; ALAP; APPILS; ARTS-1; ARTS1; ERAAP;
                     ERAAP1; PILS-AP; PILSAP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:21478864; propagated from
                     UniProtKB/Swiss-Prot (Q9NZ08.3); glycosylation site"
     misc_feature    2804..2806
                     /gene="ERAP1"
                     /gene_synonym="A-LAP; ALAP; APPILS; ARTS-1; ARTS1; ERAAP;
                     ERAAP1; PILS-AP; PILSAP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9NZ08.3); glycosylation site"
     regulatory      4816..4821
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERAP1"
                     /gene_synonym="A-LAP; ALAP; APPILS; ARTS-1; ARTS1; ERAAP;
                     ERAAP1; PILS-AP; PILSAP"
                     /note="hexamer: AATAAA"
     polyA_site      4841
                     /gene="ERAP1"
                     /gene_synonym="A-LAP; ALAP; APPILS; ARTS-1; ARTS1; ERAAP;
                     ERAAP1; PILS-AP; PILSAP"
                     /note="major polyA site"
ORIGIN
        1 actttcactt tcggtcctgg gggagctagg ccggcggcag tggtggtggc ggcggcgcaa
       61 gggtgagggc ggccccagaa ccccaggtag gtagagcaag aagatggtgt ttctgcccct
      121 caaatggtcc cttgcaacca tgtcatttct actttcctca ctgttggctc tcttaactgt
      181 gtccactcct tcatggtgtc agagcactga agcatctcca aaacgtagtg atgggacacc
      241 atttccttgg aataaaatac gacttcctga gtacgtcatc ccagttcatt atgatctctt
      301 gatccatgca aaccttacca cgctgacctt ctggggaacc acgaaagtag aaatcacagc
      361 cagtcagccc accagcacca tcatcctgca tagtcaccac ctgcagatat ctagggccac
      421 cctcaggaag ggagctggag agaggctatc ggaagaaccc ctgcaggtcc tggaacaccc
      481 ccgtcaggag caaattgcac tgctggctcc cgagcccctc cttgtcgggc tcccgtacac
      541 agttgtcatt cactatgctg gcaatctttc ggagactttc cacggatttt acaaaagcac
      601 ctacagaacc aaggaagggg aactgaggat actagcatca acacaatttg aacccactgc
      661 agctagaatg gcctttccct gctttgatga acctgccttc aaagcaagtt tctcaatcaa
      721 aattagaaga gagccaaggc acctagccat ctccaatatg ccattggtga aatctgtgac
      781 tgttgctgaa ggactcatag aagaccattt tgatgtcact gtgaagatga gcacctatct
      841 ggtggccttc atcatttcag attttgagtc tgtcagcaag ataaccaaga gtggagtcaa
      901 ggtttctgtt tatgctgtgc cagacaagat aaatcaagca gattatgcac tggatgctgc
      961 ggtgactctt ctagaatttt atgaggatta tttcagcata ccgtatcccc tacccaaaca
     1021 agatcttgct gctattcccg actttcagtc tggtgctatg gaaaactggg gactgacaac
     1081 atatagagaa tctgctctgt tgtttgatgc agaaaagtct tctgcatcaa gtaagcttgg
     1141 catcacaatg actgtggccc atgaactggc tcaccagtgg tttgggaacc tggtcactat
     1201 ggaatggtgg aatgatcttt ggctaaatga aggatttgcc aaatttatgg agtttgtgtc
     1261 tgtcagtgtg acccatcctg aactgaaagt tggagattat ttctttggca aatgttttga
     1321 cgcaatggag gtagatgctt taaattcctc acaccctgtg tctacacctg tggaaaatcc
     1381 tgctcagatc cgggagatgt ttgatgatgt ttcttatgat aagggagctt gtattctgaa
     1441 tatgctaagg gagtatctta gtgctgacgc atttaaaagt ggtattgtac agtatctcca
     1501 gaagcatagc tataaaaata caaaaaacga ggacctgtgg gatagtatgg caagtatttg
     1561 ccctacagat ggtgtaaaag ggatggatgg cttttgctct agaagtcaac attcatcttc
     1621 atcctcacat tggcatcagg aaggggtgga tgtgaaaacc atgatgaaca cttggacact
     1681 gcagaagggt tttcccctaa taaccatcac agtgaggggg aggaatgtac acatgaagca
     1741 agagcactac atgaagggct ctgacggcgc cccggacact gggtacctgt ggcatgttcc
     1801 attgacattc atcaccagca aatccgacat ggtccatcga tttttgctaa aaacaaaaac
     1861 agatgtgctc atcctcccag aagaggtgga atggatcaaa tttaatgtgg gcatgaatgg
     1921 ctattacatt gtgcattacg aggatgatgg atgggactct ttgactggcc ttttaaaagg
     1981 aacacacaca gcagtcagca gtaatgatcg ggcgagtctc attaacaatg catttcagct
     2041 cgtcagcatt gggaagctgt ccattgaaaa ggccttggat ttatccctgt acttgaaaca
     2101 tgaaactgaa attatgcccg tgtttcaagg tttgaatgag ctgattccta tgtataagtt
     2161 aatggagaaa agagatatga atgaagtgga aactcaattc aaggccttcc tcatcaggct
     2221 gctaagggac ctcattgata agcagacatg gacagacgag ggctcagtct cagagcgaat
     2281 gctgcggagt caactactac tcctcgcctg tgtgcacaac tatcagccgt gcgtacagag
     2341 ggcagaaggc tatttcagaa agtggaagga atccaatgga aacttgagcc tgcctgtcga
     2401 cgtgaccttg gcagtgtttg ctgtgggggc ccagagcaca gaaggctggg attttcttta
     2461 tagtaaatat cagttttctt tgtccagtac tgagaaaagc caaattgaat ttgccctctg
     2521 cagaacccaa aataaggaaa agcttcaatg gctactagat gaaagcttta agggagataa
     2581 aataaaaact caggagtttc cacaaattct tacactcatt ggcaggaacc cagtaggata
     2641 cccactggcc tggcaatttc tgaggaaaaa ctggaacaaa cttgtacaaa agtttgaact
     2701 tggctcatct tccatagccc acatggtaat gggtacaaca aatcaattct ccacaagaac
     2761 acggcttgaa gaggtaaaag gattcttcag ctctttgaaa gaaaatggtt ctcagctccg
     2821 ttgtgtccaa cagacaattg aaaccattga agaaaacatc ggttggatgg ataagaattt
     2881 tgataaaatc agagtgtggc tgcaaagtga aaagcttgaa cgtatgtaaa aattcctccc
     2941 ttgccaggtt cctgttatct ctaatcacca acattttgtt gagtgtattt tcaaactaga
     3001 gatggctgtt ttggctccaa ctggagatac ttttttccct tcaactcatt ttttgactat
     3061 ccctgtgaaa agaatagctg ttagtttttc atgaatgggc tatcgctacc atgtgttttg
     3121 ttcatcacag gtgttgccct gcaacgtaaa cccaagtgtt gggttccctg ccacagaaga
     3181 ataaagtacc ttattcttct cattttatag tttatgctta agcacccgtg tccaaaaccc
     3241 tgtaccccat gtttatcatt cataaactgt ttcatcagtc tcctcgaaag actctgaata
     3301 gtcgactact gaacaatgaa cacctggatc tgagactaag ccggacgatg actgggttaa
     3361 agctctcccg gctcacccct ccagacccgc tgcccatccc tcttccttgc tccatgccca
     3421 ggggctgact tgtaaaggcc aagtcatcaa gctttcttgc cctttggatg ttggtcagtg
     3481 gggagccgga gagctggagc tggggtcgga ggaggtagta ggtggaggtg ttcttccctg
     3541 attcccttgc gggatgcctc gggctggcct cccctgaggg tcttagctcc gagaggggac
     3601 cctcttttcc acacagcctt ctccacctct ggattttggt aactgctccc tcctcatccc
     3661 ttcaggatta gtggcctcag tgggagtctg gcttttacta gtcctggcgg acttgtggtt
     3721 tctacataat gtgctcgcac ttttgcaaaa aatcttttta tagaaccctc ctcagataat
     3781 tctgagtgag tgtcatctat ttccctgact ggtacagtat ctcttctgaa aaagcagagt
     3841 gcattcaagt ctgtaggaaa acccttttct tagggaggtg attttttttc tctctctgct
     3901 tcttatttgg cctactttac aatttctaac taactagtta ttggcattta ctgacagtaa
     3961 attattgcag tcaccaataa atgatagtac attgtgaaac aaaatatttg ctcatattag
     4021 caaataggac attctttggc tttgaagtct ttctttcttt tgtgaagact tcacacacgg
     4081 ttgcttcagc acacagttgc tgctcaggtt ttatgtatag atgataataa tagaaagcac
     4141 agtttactaa catggtaaac caacggagtt caagtcaagt cagttaatac cctaagaatt
     4201 agattttatt tcttattctg aaaacttgct acacagggac ttatctaacc catagtgtgc
     4261 tctgttgctg acttgattca agttgcagcg tgttttgcgc tgactctaag gtgcggaaat
     4321 cctcacacct ggcaaaggag aattcaaact gaactttttg aatataaggc aaaaacttca
     4381 agataaggga atatgattga tgattggtac gaaaaatgtc aaaatgtgtt cccctaatac
     4441 acgacaaaat agagtgactt ctggacataa atctgccatt tattaaacca ttcactacaa
     4501 caaataaata ggtataaaag tggaattgga atttttatac ttatttgttg tagtgaatgg
     4561 tttaataaaa atagaaatca ctggtaattt ccaccccaaa ctaaactatt tcccttcttt
     4621 taaaaaaata cacaaccaag attttaatgt aaaatatttt gctttaattg tattttatgc
     4681 cttgattaat gaaacatgga aatattgatt ttcagttttg gtcacctgag gaacctatct
     4741 ttgtttgctt ttggaaaagc ccattttcta aacagataca atattgccac aacaatgtgc
     4801 agaaaccttt ttgataataa aaaattgttc tttgcctcta a
//
LOCUS       NM_001040462            2017 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens butyrophilin like 8 (BTNL8), transcript variant 2,
            mRNA.
ACCESSION   NM_001040462
VERSION     NM_001040462.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2017)
  AUTHORS   Bobyn A, Zarrei M, Zhu Y, Hoffman M, Brenner D, Resnick AC, Scherer
            SW and Gallo M.
  TITLE     Ancestry and frequency of genetic variants in the general population
            are confounders in the characterization of germline variants linked
            to cancer
  JOURNAL   BMC Med Genet 21 (1), 92 (2020)
   PUBMED   32375678
  REMARK    GeneRIF: analysis of genomic information from multiple non-cancer
            cohorts showed that both the NEGR1 promoter deletion and the BTNL3-8
            deletion were CNVs occurring at high frequencies in the general
            population. Intriguingly, the upstream NEGR1 CNV deletion was
            homozygous in ~ 40% of individuals in the non-cancer population.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2017)
  AUTHORS   Vantourout P, Laing A, Woodward MJ, Zlatareva I, Apolonia L, Jones
            AW, Snijders AP, Malim MH and Hayday AC.
  TITLE     Heteromeric interactions regulate butyrophilin (BTN) and BTN-like
            molecules governing gammadelta T cell biology
  JOURNAL   Proc Natl Acad Sci U S A 115 (5), 1039-1044 (2018)
   PUBMED   29339503
REFERENCE   3  (bases 1 to 2017)
  AUTHORS   Chapoval AI, Smithson G, Brunick L, Mesri M, Boldog FL, Andrew D,
            Khramtsov NV, Feshchenko EA, Starling GC and Mezes PS.
  TITLE     BTNL8, a butyrophilin-like molecule that costimulates the primary
            immune response
  JOURNAL   Mol Immunol 56 (4), 819-828 (2013)
   PUBMED   24036152
  REMARK    GeneRIF: Data suggest that butyrophilin-like molecule BTNL8 may play
            an essential role in priming of naive T lymphocytes.
REFERENCE   4  (bases 1 to 2017)
  AUTHORS   Ramani SR, Tom I, Lewin-Koh N, Wranik B, Depalatis L, Zhang J, Eaton
            D and Gonzalez LC.
  TITLE     A secreted protein microarray platform for extracellular protein
            interaction discovery
  JOURNAL   Anal Biochem 420 (2), 127-138 (2012)
   PUBMED   21982860
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY358523.1, ERR279826.3309.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000340184.9/ ENSP00000342197.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY358523.1 and AK025111.1.
            On May 17, 2019 this sequence version replaced NM_001040462.2.
            Transcript Variant: This variant (2) uses an alternate splice site
            in the middle portion of the coding region compared to variant 1,
            that results in a frameshift. It encodes isoform 2, previously
            known as the long form, which is longer and has a distinct
            C-terminus compared to isoform 1.
FEATURES             Location/Qualifiers
     source          1..2017
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     gene            1..2017
                     /gene="BTNL8"
                     /gene_synonym="BTN9.2"
                     /note="butyrophilin like 8"
                     /db_xref="GeneID:79908"
                     /db_xref="HGNC:HGNC:26131"
                     /db_xref="MIM:615606"
     misc_feature    87..89
                     /gene="BTNL8"
                     /gene_synonym="BTN9.2"
                     /note="upstream in-frame stop codon"
     CDS             153..1655
                     /gene="BTNL8"
                     /gene_synonym="BTN9.2"
                     /note="isoform 2 precursor is encoded by transcript variant
                     2; butyrophilin-like protein 8; B7-H5 costimulatory
                     molecule"
                     /codon_start=1
                     /product="butyrophilin-like protein 8 isoform 2 precursor"
                     /protein_id="NP_001035552.1"
                     /db_xref="CCDS:CCDS43413.1"
                     /db_xref="GeneID:79908"
                     /db_xref="HGNC:HGNC:26131"
                     /db_xref="MIM:615606"
                     /translation="MALMLSLVLSLLKLGSGQWQVFGPDKPVQALVGEDAAFSCFLSPK
                     TNAEAMEVRFFRGQFSSVVHLYRDGKDQPFMQMPQYQGRTKLVKDSIAEGRISLRLENI
                     TVLDAGLYGCRISSQSYYQKAIWELQVSALGSVPLISITGYVDRDIQLLCQSSGWFPRP
                     TAKWKGPQGQDLSTDSRTNRDMHGLFDVEISLTVQENAGSISCSMRHAHLSREVESRVQ
                     IGDTFFEPISWHLATKVLGILCCGLFFGIVGLKIFFSKFQWKIQAELDWRRKHGQAELR
                     DARKHAVEVTLDPETAHPKLCVSDLKTVTHRKAPQEVPHSEKRFTRKSVVASQSFQAGK
                     HYWEVDGGHNKRWRVGVCRDDVDRRKEYVTLSPDHGYWVLRLNGEHLYFTLNPRFISVF
                     PRTPPTKIGVFLDYECGTISFFNINDQSLIYTLTCRFEGLLRPYIEYPSYNEQNGTPIV
                     ICPVTQESEKEASWQRASAIPETSNSESSSQATTPFLPRGEM"
     sig_peptide     153..203
                     /gene="BTNL8"
                     /gene_synonym="BTN9.2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    459..461
                     /gene="BTNL8"
                     /gene_synonym="BTN9.2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6UX41.1); glycosylation site"
     misc_feature    867..929
                     /gene="BTNL8"
                     /gene_synonym="BTN9.2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UX41.1);
                     transmembrane region"
     misc_feature    1560..1652
                     /gene="BTNL8"
                     /gene_synonym="BTN9.2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UX41.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1997..2002
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTNL8"
                     /gene_synonym="BTN9.2"
                     /note="hexamer: ATTATA"
     polyA_site      2017
                     /gene="BTNL8"
                     /gene_synonym="BTN9.2"
                     /note="major polyA site"
ORIGIN
        1 agaacagcgc agtttgccct ccgctcacgc agagcctctc cgtggcttcc gcaccttgag
       61 cattaggcca gttctcctct tctctctaat ccatccgtca cctctcctgt catccgtttc
      121 catgccgtga ggtccattca cagaacacat ccatggctct catgctcagt ttggttctga
      181 gtctcctcaa gctgggatca gggcagtggc aggtgtttgg gccagacaag cctgtccagg
      241 ccttggtggg ggaggacgca gcattctcct gtttcctgtc tcctaagacc aatgcagagg
      301 ccatggaagt gcggttcttc aggggccagt tctctagcgt ggtccacctc tacagggacg
      361 ggaaggacca gccatttatg cagatgccac agtatcaagg caggacaaaa ctggtgaagg
      421 attctattgc ggaggggcgc atctctctga ggctggaaaa cattactgtg ttggatgctg
      481 gcctctatgg gtgcaggatt agttcccagt cttactacca gaaggccatc tgggagctac
      541 aggtgtcagc actgggctca gttcctctca tttccatcac gggatatgtt gatagagaca
      601 tccagctact ctgtcagtcc tcgggctggt tcccccggcc cacagcgaag tggaaaggtc
      661 cacaaggaca ggatttgtcc acagactcca ggacaaacag agacatgcat ggcctgtttg
      721 atgtggagat ctctctgacc gtccaagaga acgccgggag catatcctgt tccatgcggc
      781 atgctcatct gagccgagag gtggaatcca gggtacagat aggagatacc tttttcgagc
      841 ctatatcgtg gcacctggct accaaagtac tgggaatact ctgctgtggc ctattttttg
      901 gcattgttgg actgaagatt ttcttctcca aattccagtg gaaaatccag gcggaactgg
      961 actggagaag aaagcacgga caggcagaat tgagagacgc ccggaaacac gcagtggagg
     1021 tgactctgga tccagagacg gctcacccga agctctgcgt ttctgatctg aaaactgtaa
     1081 cccatagaaa agctccccag gaggtgcctc actctgagaa gagatttaca aggaagagtg
     1141 tggtggcttc tcagagtttc caagcaggga aacattactg ggaggtggac ggaggacaca
     1201 ataaaaggtg gcgcgtggga gtgtgccggg atgatgtgga caggaggaag gagtacgtga
     1261 ctttgtctcc cgatcatggg tactgggtcc tcagactgaa tggagaacat ttgtatttca
     1321 cattaaatcc ccgttttatc agcgtcttcc ccaggacccc acctacaaaa ataggggtct
     1381 tcctggacta tgagtgtggg accatctcct tcttcaacat aaatgaccag tcccttattt
     1441 ataccctgac atgtcggttt gaaggcttat tgaggcccta cattgagtat ccgtcctata
     1501 atgagcaaaa tggaactccc atagtcatct gcccagtcac ccaggaatca gagaaagagg
     1561 cctcttggca aagggcctct gcaatcccag agacaagcaa cagtgagtcc tcctcacagg
     1621 caaccacgcc cttcctcccc aggggtgaaa tgtaggatga atcacatccc acattcttct
     1681 ttagggatat taaggtctct ctcccagatc caaagtcccg cagcagccgg ccaaggtggc
     1741 ttccagatga agggggactg gcctgtccac atgggagtca ggtgtcatgg ctgccctgag
     1801 ctgggaggga agaaggctga cattacattt agtttgctct cactccatct ggctaagtga
     1861 tcttgaaata ccacctctca ggtgaagaac cgtcaggaat tcccatctca caggctgtgg
     1921 tgtagattaa gtagacaagg aatgtgaata atgcttagat cttattgatg acagagtgta
     1981 tcctaatggt ttgttcatta tattacactt tcagtaa
//
LOCUS       NM_001040616            4755 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens lines homolog 1 (LINS1), transcript variant 1, mRNA.
ACCESSION   NM_001040616
VERSION     NM_001040616.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4755)
  AUTHORS   Chen CH, Huang YS and Fang TH.
  TITLE     Identification of a novel nonsense homozygous mutation of LINS1 gene
            in two sisters with intellectual disability, schizophrenia, and
            anxiety
  JOURNAL   Biomed J 44 (6), 748-751 (2021)
   PUBMED   34450347
  REMARK    GeneRIF: Identification of a novel nonsense homozygous mutation of
            LINS1 gene in two sisters with intellectual disability,
            schizophrenia, and anxiety.
REFERENCE   2  (bases 1 to 4755)
  AUTHORS   Zhang X, Pan L and Shen G.
  TITLE     [Identification of LINS1 gene variant in a patient with severe
            mental retardation]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 37 (1), 57-59 (2020)
   PUBMED   31922598
  REMARK    GeneRIF: A novel pathogenic variant of the LINS1 gene has been
            identified in a child with idiopathic mental retardation
REFERENCE   3  (bases 1 to 4755)
  AUTHORS   Sheth J, Ranjan G, Shah K, Bhavsar R and Sheth F.
  TITLE     Novel LINS1 missense mutation in a family with non-syndromic
            intellectual disability
  JOURNAL   Am J Med Genet A 173 (4), 1041-1046 (2017)
   PUBMED   28181389
REFERENCE   4  (bases 1 to 4755)
  AUTHORS   Akawi NA, Al-Jasmi F, Al-Shamsi AM, Ali BR and Al-Gazali L.
  TITLE     LINS, a modulator of the WNT signaling pathway, is involved in human
            cognition
  JOURNAL   Orphanet J Rare Dis 8, 87 (2013)
   PUBMED   23773660
  REMARK    GeneRIF: Study confirms that LINS, a modulator of the WNT pathway,
            is an indispensable gene to human cognition and this finding sheds
            further light on the importance of WNT signaling in human brain
            development and/or function. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4755)
  AUTHORS   Abou Jamra R, Wohlfart S, Zweier M, Uebe S, Priebe L, Ekici A,
            Giesebrecht S, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael
            A, Muhammad S, Nothen MM, Schumacher J and Reis A.
  TITLE     Homozygosity mapping in 64 Syrian consanguineous families with
            non-specific intellectual disability reveals 11 novel loci and high
            heterogeneity
  JOURNAL   Eur J Hum Genet 19 (11), 1161-1166 (2011)
   PUBMED   21629298
REFERENCE   6  (bases 1 to 4755)
  AUTHORS   Katoh M.
  TITLE     Molecular cloning and characterization of human WINS1 and mouse
            Wins2, homologous to Drosophila segment polarity gene Lines (Lin)
  JOURNAL   Int J Mol Med 10 (2), 155-159 (2002)
   PUBMED   12119551
  REMARK    GeneRIF: Human WINS1 encoded 757 AA protein. Human WINS1 mRNA was
            expressed in adult testis, prostate, spleen, thymus, skeletal
            muscle, fetal kidney & brain. This is the first report on molecular
            cloning & initial characterization of human WINS1.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.877853.1,
            SRR18074967.1703919.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000314742.13/ ENSP00000318423.8
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090695.14 and AC027020.12.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001040616.2.
            Summary: The Drosophila segment polarity gene lin encodes a
            protein, lines, which plays important roles in development of the
            epidermis and hindgut. This gene encodes a protein containing a
            lines-like domain. This gene is located on chromosome 15 and
            clustered with the gene encoding ankyrin repeat and SOCS
            box-containing protein 7. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jun 2017].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4755
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     gene            1..4755
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /note="lines homolog 1"
                     /db_xref="GeneID:55180"
                     /db_xref="HGNC:HGNC:30922"
                     /db_xref="MIM:610350"
     misc_feature    111..113
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /note="upstream in-frame stop codon"
     CDS             168..2441
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /note="isoform 1 is encoded by transcript variant 1; WINS1
                     protein with Drosophila Lines (Lin) homologous domain;
                     protein Lines homolog 1; wnt-signaling molecule Lines
                     homolog 1"
                     /codon_start=1
                     /product="protein Lines homolog 1 isoform 1"
                     /protein_id="NP_001035706.2"
                     /db_xref="CCDS:CCDS10385.1"
                     /db_xref="GeneID:55180"
                     /db_xref="HGNC:HGNC:30922"
                     /db_xref="MIM:610350"
                     /translation="MKVFCEVLEELYKKVLLGATLENDSHDYIFYLNPAVSDQDCSTAT
                     SLEWANTCGIQGRHQPISVGVAPIAVAPVCLKTNSQMSGSREVMLLQLTVIKVMTTRIL
                     SVKTEFHAKEQYRDVIKILLESAKVDSKLICMFQNSDKLLSHMAAQCLALLLYFQLREK
                     ITLSNSWIAFCQKNLSEYSESNKAIYCLWTLTAIIKEIFKDSCSQKTEILKQFLTHFDT
                     IFEVFYNSLFSQHFENCRDTSKIVNILMCFLDLLELLIASRIHLKLHFTCQRILFLKPS
                     CMLEVITWPIQAFVKRKVIIFLKKCLLCKVGEDLCRGSVPALMPPDHHVAVDMLALANA
                     VLQAVNSGLLKTLSVYEKHSFFGGDEVQPECELITSPDHVILRAASLVIMKSLEIKFQN
                     YSSASEVKVDLQRFMSELLTFLKPHLQPSLQLHNPCKWLSRVFIEQDDDMLEAAKASLG
                     IYLTLTRGCEATESLTQGKEMWDHHTHENGYNPHCIFLFFLKNIGFDSTVLLDFLISSE
                     TCFLEYFVRYLKLLQKDWDNFFTICNNFDATESKYDISICGCVPSLVQDQSSNQTIPHR
                     LTAPHSHRDVCARHSWASDAPSEPLKAVMSKGAHTMCASSLSSPRASQSLVDYDSSDDS
                     DVESTEQCLANSKQTSLHQQATKEIQDAAGTSRDKKEFSLEPPSRPLVLKEFDTAFSFD
                     CEVAPNDVVSEVGIFYRIVKCFQELQDAICRLQKKNLFPYNPTALLKLLKYIEVISNKT
                     MNTL"
     misc_feature    2070..2072
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3U1D0; propagated from
                     UniProtKB/Swiss-Prot (Q8NG48.2); phosphorylation site"
     regulatory      2418..2423
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /note="hexamer: AATAAA"
     polyA_site      2443
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /note="major polyA site"
     regulatory      4729..4734
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /note="hexamer: CATAAA"
     polyA_site      4755
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
ORIGIN
        1 agagcgggca tttgtgttcc ctcaaatggc ggtgtgaaga gagttcgcct gagccagatc
       61 ccaggtttca ctgaagaaac ttcttagaga ttcattgcac ttctgagatt taatgtttac
      121 aacttggagt tgtcgacctt cttataagat acattttgga agtcaaaatg aaagttttct
      181 gtgaagtttt agaagagtta tacaagaagg tacttcttgg agccacactt gaaaatgaca
      241 gccatgatta catcttttat ctcaacccag cagtttcaga tcaagattgt tctacagcca
      301 cctccttaga atgggcaaac acctgtggta tccagggcag gcatcagccc atctctgttg
      361 gtgtggctcc cattgctgta gcacctgtgt gtttgaagac caactctcag atgagcggtt
      421 ccagagaagt aatgctcctt cagttaacag tgatcaaagt gatgacaacc cggatattgt
      481 ctgtcaaaac cgagttccat gcaaaggagc agtacagaga tgtaattaaa attctcttag
      541 aatcagccaa agtcgattct aaattaatct gcatgttcca aaattcagat aaattgttat
      601 ctcacatggc tgcacagtgc cttgcattgc ttctatattt ccaattgaga gaaaagataa
      661 ccttaagtaa ttcctggatt gctttttgcc agaaaaatct ttctgaatac tctgagagta
      721 ataaagcaat atactgcctc tggactctta cagcaataat aaaagaaatc tttaaagatt
      781 catgttcaca gaaaacagaa attctaaagc agttcctgac tcatttcgac accatttttg
      841 aagtgtttta caattcctta ttctctcagc attttgaaaa ctgccgggat acttctaaaa
      901 tagtaaacat cctgatgtgt ttcctggatt tgcttgagct tctcatcgcc tccagaatcc
      961 acctgaagtt acatttcact tgccagagga ttttattttt gaaaccatct tgcatgctag
     1021 aagttattac ctggcctatt caggcttttg ttaaaaggaa ggtcatcata ttcctcaaaa
     1081 agtgccttct ctgtaaagtg ggtgaagacc tctgtcgtgg atctgtgcct gccttaatgc
     1141 cgccagacca tcatgtagcg gtggacatgc tggctttagc taatgctgtt ttgcaagctg
     1201 tgaattcggg gttgttgaag acactgtctg tttatgaaaa acattccttt tttggaggtg
     1261 atgaagttca acctgaatgt gaacttatca ctagtccaga tcatgtgatc cttagagcag
     1321 caagcttagt tataatgaaa tccttagaaa tcaagtttca aaattattct tcagcaagtg
     1381 aagtgaaagt tgacttacag aggttcatgt ctgagttact gaccttctta aagcctcatc
     1441 ttcagccctc tctgcaatta cacaatccgt gcaaatggct gtctcgggtt ttcatagaac
     1501 aagacgatga catgctggag gctgccaagg catcactggg catctactta acactgacca
     1561 gaggatgtga agccactgaa agcttgactc agggaaaaga aatgtgggac catcacacac
     1621 atgaaaatgg ctataatcct cactgtattt tcttgttctt cttgaaaaat ataggatttg
     1681 attccacagt tcttcttgac tttttgattt catcagaaac ctgttttctt gaatattttg
     1741 ttagatattt aaaattactg caaaaggact gggataattt tttcaccatt tgcaataact
     1801 ttgatgcaac tgaatctaaa tatgacataa gtatttgtgg ctgtgtcccc tcacttgtcc
     1861 aagaccaaag ctccaaccaa acaatacccc atcgtttgac tgctcctcat agtcacagag
     1921 atgtgtgtgc tcggcactcc tgggcttccg atgctccctc tgaaccactg aaagctgtga
     1981 tgtccaaggg ggctcacacc atgtgtgctt ctagtctgtc ttccccccgg gcctctcaaa
     2041 gtctggtaga ttacgacagc tctgacgatt ctgacgtgga atccacagag cagtgtttag
     2101 ctaacagtaa acagacatct ttacaccagc aagcaactaa ggagattcag gatgcagctg
     2161 ggacaagcag ggataaaaaa gaatttagcc ttgagcctcc atcaaggcct ctggttctga
     2221 aagaatttga tactgccttc tcctttgatt gtgaagtagc cccaaatgat gtcgtctctg
     2281 aagtgggaat attttacaga atagtaaaat gcttccagga actacaagat gccatctgcc
     2341 gtttgcaaaa gaaaaatctt ttcccatata atccaactgc acttttgaag ttgttaaaat
     2401 acatagaggt gataagtaat aaaactatga acactttgta aaacattgac attttatttt
     2461 ccaggtattg tttttcctta atataaatta tgtctcaatg aggtaatagt ataaaatcat
     2521 caccataaaa gggttttctt tttttttttt ttttttgaga cagaatctca ttctgtcgct
     2581 caggccggag tgcagtggcg tgactcgact cactgcaacc tccacctcct gggttcaagc
     2641 aattctcctg cctcagtctc ccgagtagct ggaattacag gtgcccgcca ccacgcccag
     2701 ctaatttttg tatttttagt agagacgggg gtttcaccat gttgccaggc tggtctcaaa
     2761 ctcctgacct caagtgatcc gcctgtccgc cctcccgaag tgctgggatt acaggcatga
     2821 gccactgtgc ccggctgggt tttctagaca agttcttact ttttgcctta ttggaagcaa
     2881 cctagtgact gaaaaagaga catcaagtga caagtcactc attatagcta tataccactg
     2941 gagatttatg gcagttctaa gtgacacaaa atcgggggtg gtgattgcgt tcctcagcta
     3001 gggctgccgt aacaacttgc cacgtgtgcc gcagcttcag acacctggaa ttatcctcat
     3061 agttttggag gccagaatcc aaactcaggc ttcagcaggg caatgccctc agggtctgga
     3121 gaagaatccc accctgcccc tttctggctt ctggtggcag ccagccagcc atggtgtccc
     3181 ttgtcttgta gtggcgtcac tccagttcct gcctcacatg gcattttcct gtgtctgtgt
     3241 ccagtttccc tcctacaagg acatcggtca ttggactagg acctaccctc atccagtatg
     3301 atctcaactt gatgacagct gcaaagaccc taatcccaga tatggccact ttcatgtgtc
     3361 cttgatggac ttgaatccag gagagtcact aaccaaatac agttactatt tccttctggg
     3421 gtatttacac agaaagcgat atattacaaa tgtaaaatct tagccgtttc tttgagaagt
     3481 gattatacct ggcctactgt atgaacatga ttctttctaa aaaaaaattt aatcactaat
     3541 tttcctattt aaaattgtga catgaataat tatgttccat attcttgagg ggaagccgta
     3601 aattccattg taatatgttt gtgtaatagg agcaatagct atattgtgct gcgaagtctg
     3661 gcattaaggc agtctaaaat attgcctgta catttttttt taatgatctc tttgcagaga
     3721 aacagaacaa agactaaacc taccgcacat taaaatatat attaaggcta tggtattcga
     3781 aacagtttag tacttaattc aggtagacat ggaaaaatca gtggagctaa atagaaggtt
     3841 gccgattaaa ataacagcga agtaccagtg ttagccaaat agcaatgcaa aggtcaaaag
     3901 gtttgcgttt taacatgctg tcggtgaggc tatgcgttaa ggcagtttct accgtaattg
     3961 aaaaagcacg tcaaagaatg tgtattcaag gatgccacat agtttgtaaa aaatgttaag
     4021 gttttagagt tttactagaa atacctggta aagtaagtca gaatttgtat agtcagtgga
     4081 atggtagatg cgttctatgc acgtttgtgg atgtgaaaca tctccagtaa aaaacaagta
     4141 aatacatggg gcttgcaatt atttagggaa agaagcaggg cgggagtaat acacattcat
     4201 atatatgctt ttgtgcatgt ataaaatatg tatgtaagac tacataagaa agtcataata
     4261 gtggttgcct tgggagacag gtctgatgtg gaagacaaag tctcatcttt ttgtactatt
     4321 tttagtggga tacatgcagc actgcattag gatgtttcaa taacagacca catagtacag
     4381 tggtcccata agactatcaa gccgttattt ttactgtgac tgtcctatgt ttaggcatgt
     4441 ttagatacac gcatacttac tattgtgtta cagttgccta cagtattcag tacagtaaca
     4501 tgctgtgtac aggtttgtag cctaggagca atgggctata ccatatagcc taggtgtgta
     4561 gtaggctatg ccatctaggt ttgttgagta tactctgtga catacatgac atgacaacaa
     4621 aattgcctta cagctcattt ctcagaacat gtccctgtca tgtgacacat ggctgttttt
     4681 tgatggaaat aactgggaaa aaaaaatcga ctcttgttcc taagggtaca taaatgttga
     4741 atgcattata actca
//
LOCUS       NM_001040663            2993 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens G antigen 1 (GAGE1), transcript variant 2, mRNA.
ACCESSION   NM_001040663
VERSION     NM_001040663.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2993)
  AUTHORS   Chao NX, Li LZ, Luo GR, Zhong WG, Huang RS, Fan R and Zhao FL.
  TITLE     Cancer-testis antigen GAGE-1 expression and serum immunoreactivity
            in hepatocellular carcinoma
  JOURNAL   Niger J Clin Pract 21 (10), 1361-1367 (2018)
   PUBMED   30297572
  REMARK    GeneRIF: These data illustrate that the GAGE1 protein exhibits
            moderate cancerrestricted pattern of expression and immunogenicity,
            laying the foundation for the application of GAGE1 in immunotherapy
            and for the diagnosis of HCC[hepatocellular carcinoma].
REFERENCE   2  (bases 1 to 2993)
  AUTHORS   Li Y, Hu J, Li L, Cai S, Zhang H, Zhu X, Guan G and Dong X.
  TITLE     Upregulated circular RNA circ_0016760 indicates unfavorable
            prognosis in NSCLC and promotes cell progression through
            miR-1287/GAGE1 axis
  JOURNAL   Biochem Biophys Res Commun 503 (3), 2089-2094 (2018)
   PUBMED   30103946
  REMARK    GeneRIF: The circ_0016760/miR-1287/GAGE1 signaling might play vital
            roles in the tumorigenesis and progression of Non-small cell lung
            cancer (NSCLC).
REFERENCE   3  (bases 1 to 2993)
  AUTHORS   Karia BTR, Zamuner FT, Carlin V, de Oliveira CZ, Carvalho AL and
            Vettore AL.
  TITLE     Expression and Prognostic Relevance of GAGE1 and XAGE1 Cancer/Testis
            Antigens in Head and Neck Squamous Cell Carcinoma
  JOURNAL   Curr Mol Med 17 (10), 707-717 (2017)
   PUBMED   29577858
  REMARK    GeneRIF: High GAGE1 expression is associated with metastasis in Head
            and Neck Squamous Cell Carcinoma.
REFERENCE   4  (bases 1 to 2993)
  AUTHORS   Zhang S, Zhou X, Yu H and Yu Y.
  TITLE     Expression of tumor-specific antigen MAGE, GAGE and BAGE in ovarian
            cancer tissues and cell lines
  JOURNAL   BMC Cancer 10, 163 (2010)
   PUBMED   20423514
  REMARK    GeneRIF: Tumor-specific antigen GAGE may play a role in the
            occurrence and development of ovarian cancer and can be used as one
            of the important indicators for early diagnosis, efficacy evaluation
            and prognostic determination of ovarian cancer. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 2993)
  AUTHORS   Mishra DK, Chen Z, Wu Y, Sarkissyan M, Koeffler HP and Vadgama JV.
  TITLE     Global methylation pattern of genes in androgen-sensitive and
            androgen-independent prostate cancer cells
  JOURNAL   Mol Cancer Ther 9 (1), 33-45 (2010)
   PUBMED   20053773
REFERENCE   6  (bases 1 to 2993)
  AUTHORS   Nagel H, Laskawi R, Eiffert H and Schlott T.
  TITLE     Analysis of the tumour suppressor genes, FHIT and WT-1, and the
            tumour rejection genes, BAGE, GAGE-1/2, HAGE, MAGE-1, and MAGE-3, in
            benign and malignant neoplasms of the salivary glands
  JOURNAL   Mol Pathol 56 (4), 226-231 (2003)
   PUBMED   12890744
REFERENCE   7  (bases 1 to 2993)
  AUTHORS   Chen Z, Shao JB and Wu W.
  TITLE     Expression of A, G and B melanoma antigen genes in human
            hepatocellular carcinoma
  JOURNAL   Hepatobiliary Pancreat Dis Int 1 (4), 570-573 (2002)
   PUBMED   14607688
REFERENCE   8  (bases 1 to 2993)
  AUTHORS   De Backer O, Arden KC, Boretti M, Vantomme V, De Smet C, Czekay S,
            Viars CS, De Plaen E, Brasseur F, Chomez P, Van den Eynde B, Boon T
            and van der Bruggen P.
  TITLE     Characterization of the GAGE genes that are expressed in various
            human cancers and in normal testis
  JOURNAL   Cancer Res 59 (13), 3157-3165 (1999)
   PUBMED   10397259
REFERENCE   9  (bases 1 to 2993)
  AUTHORS   Chen ME, Lin SH, Chung LW and Sikes RA.
  TITLE     Isolation and characterization of PAGE-1 and GAGE-7. New genes
            expressed in the LNCaP prostate cancer progression model that share
            homology with melanoma-associated antigens
  JOURNAL   J Biol Chem 273 (28), 17618-17625 (1998)
   PUBMED   9651357
REFERENCE   10  (bases 1 to 2993)
  AUTHORS   Van den Eynde B, Peeters O, De Backer O, Gaugler B, Lucas S and Boon
            T.
  TITLE     A new family of genes coding for an antigen recognized by autologous
            cytolytic T lymphocytes on a human melanoma
  JOURNAL   J Exp Med 182 (3), 689-698 (1995)
   PUBMED   7544395
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.995500.1,
            SRR14038195.560005.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381700.11/ ENSP00000371119.5
            RefSeq Select criteria      :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC231643.3, BC069470.1 and
            BC036094.1.
            On Jan 12, 2021 this sequence version replaced NM_001040663.3.
            Summary: This gene belongs to a family of genes that are expressed
            in a variety of tumors but not in normal tissues, except for the
            testis. The sequences of the family members are highly related but
            differ by scattered nucleotide substitutions. The antigenic peptide
            YRPRPRRY, which is also encoded by several other family members, is
            recognized by autologous cytolytic T lymphocytes. Nothing is
            presently known about the function of this protein. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jun 2010].
            Transcript Variant: This variant (2) encodes the functional
            protein.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            CCDS Note: This CCDS representation is supported by the mRNA
            accession BC069470.1, which has its best hit to this GAGE family
            member.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2993
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..2993
                     /gene="GAGE1"
                     /gene_synonym="CT4.1; CT4.4; GAGE-1; GAGE-4; GAGE4"
                     /note="G antigen 1"
                     /db_xref="GeneID:2543"
                     /db_xref="HGNC:HGNC:4098"
                     /db_xref="MIM:300594"
     misc_feature    111..113
                     /gene="GAGE1"
                     /gene_synonym="CT4.1; CT4.4; GAGE-1; GAGE-4; GAGE4"
                     /note="upstream in-frame stop codon"
     CDS             117..470
                     /gene="GAGE1"
                     /gene_synonym="CT4.1; CT4.4; GAGE-1; GAGE-4; GAGE4"
                     /note="cancer/testis antigen family 4, member 1; MZ2-F
                     antigen; G antigen 4; Cancer/testis antigen 4.4;
                     cancer/testis antigen 4.1"
                     /codon_start=1
                     /product="G antigen 1"
                     /protein_id="NP_001035753.1"
                     /db_xref="CCDS:CCDS43950.1"
                     /db_xref="GeneID:2543"
                     /db_xref="HGNC:HGNC:4098"
                     /db_xref="MIM:300594"
                     /translation="MSWRGRSTYYWPRPRRYVQPPEMIGPMRPEQFSDEVEPATPEEGE
                     PATQRQDPAAAQEGEDEGASAGQGPKPEADSQEQGHPQTGCECEDGPDGQEMDPPNPEE
                     VKTPEEGEGQSQC"
     misc_feature    117..467
                     /gene="GAGE1"
                     /gene_synonym="CT4.1; CT4.4; GAGE-1; GAGE-4; GAGE4"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DTW1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      536..541
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GAGE1"
                     /gene_synonym="CT4.1; CT4.4; GAGE-1; GAGE-4; GAGE4"
                     /note="hexamer: AATAAA"
     polyA_site      564
                     /gene="GAGE1"
                     /gene_synonym="CT4.1; CT4.4; GAGE-1; GAGE-4; GAGE4"
                     /note="major polyA site"
     regulatory      2972..2977
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GAGE1"
                     /gene_synonym="CT4.1; CT4.4; GAGE-1; GAGE-4; GAGE4"
                     /note="hexamer: AATAAA"
     polyA_site      2993
                     /gene="GAGE1"
                     /gene_synonym="CT4.1; CT4.4; GAGE-1; GAGE-4; GAGE4"
ORIGIN
        1 gtcttctgcc cggccccttc gcccacgtga agaacgccag ggagctgtga ggcagtgctg
       61 tgtggttcct gccgtccgga ctctttttcc tctactgaga ttcatctgtg tgaaatatga
      121 gttggcgagg aagatcgacc tattattggc ctagaccaag gcgctatgta cagcctcctg
      181 aaatgattgg gcctatgcgg cccgagcagt tcagtgatga agtggaacca gcaacacctg
      241 aagaagggga accagcaact caacgtcagg atcctgcagc tgctcaggag ggagaggatg
      301 agggagcatc tgcaggtcaa gggccgaagc ctgaagctga tagccaggaa cagggtcacc
      361 cacagactgg gtgtgagtgt gaagatggtc ctgatgggca ggagatggac ccgccaaatc
      421 cagaggaggt gaaaacgcct gaagaaggtg aagggcaatc acagtgttaa aagaagacat
      481 gctgaaatgt tgcaggctgc tcctatgttg gaaaattctt cattgaagtt ctcccaataa
      541 agctttacag ccttctgcaa agaagtcttg tgaatctttt gtcaatttta tttctagcta
      601 tttgatgctg tgaaatgttt cattctttgc aattttgtat tctatctcct tgagctgtgt
      661 gtagaggcat aattctcatg tattgatttt ctatccagca accttgttaa atatgcttat
      721 gaattttaaa agtttacttc taggtttttt cagttttcaa cctacagaat catatcattt
      781 ttgaataaga acaattttgt ttctgccttt tttgtttgtt ttttcttttg tatttttcgt
      841 agaggtggga ttttggcctg tgtcctaggc tttttttgaa ctcctgagcg caagtaatcc
      901 actctccttg gcctttcaaa gtgttgggat tacaggcatg ggccaccgtg ctggtcctgt
      961 ttttgccatt ttaaaccctt ttatttcctt ttctgatttt atggcattga gcagatctac
     1021 cggatacaat tgtgatagtg gaaatttttg tgttattcct gatgagaaat ggaaaaattt
     1081 caacatttca cgacaatatt tagtgtactt tttttgtaga tggacttttt cagagtaagt
     1141 caagccattc tgttttagtt tgttgagagt gttcattttg aatatatgtt gaatttcatc
     1201 aaacactgac ctgagtcatc ttaaaacatg tgaattgaga tttctttgct actaagaaag
     1261 tgagcgggca ctctgcttca tgtttacttt tgtcatgttg catgaaaaac attttgcttc
     1321 atgtttgatt ctgtatgttg aaaactgaaa tcatctattg tgattaccac agggtttttt
     1381 cccccagtaa tctgtttatg tagtcaatta cgttgataaa tctgtacttt ttaaatttta
     1441 acaattgaga caggtctcac tctgtcaccc atgctgactg cagtagtgtg atcacagctt
     1501 actgcaacct caacctcctg ggctcaggcg atcctcccac ctcaccctcc tcagtagcta
     1561 ggactatagg tacatgccac catgccaagc taatttttct gttttagaga tggtattttt
     1621 tcatgttgcc caggctggtt ttatactcct aatctcaagc catccactag cctcagcctc
     1681 ccaaagtgct gggattacag gaatgagtca cggtgcctgg aaattttgta catttaaacc
     1741 aacaatttgg tcatgggtaa tctatgtcct aataatttat ttaaggattt ttatgtatat
     1801 cctcatgagt gacattacct gtacttttat ttcatatgct catttgttgg acgttgttat
     1861 caaggttcct ctagcttcat aaaacgggtt ggtatgtaaa acctcttttt ccattcactg
     1921 gaactcaagt ctcctcaagg ctgtgagtaa tgcagggcta ggctttccca taatgagctt
     1981 ttctagaatg cttctctcag atttggaccc tacttaaaca gcagtgacca aacgggcagc
     2041 tccaggtacc tatcccctca aactttgtga gggtcgcgtt ctctgaagat gcctcttcaa
     2101 tttgaaagct atctgttcct gtttctctgc tgatattaac tctctgtgca cagaaagtta
     2161 aacgtcactg gttattaatt tccctagatt ttgatctgtg ctgtgtggct gagaatgggc
     2221 tgactgaccc tagatctgtg tataattatg acaatggctc catttatttt taaaataaga
     2281 ggaattatta taaaattcct atttactgga tgtgtactat ctatgaatta cttctttgtg
     2341 ctaggttgtg tacatgtatg acctctttag atcctcacaa gataaggcag aattttcatg
     2401 aaattgatga ctgactccag taagaagcag atttgggggg atttcaattt ctaagctcaa
     2461 agcccttgca cttttctcaa agtaaagctt ttgaaagtgt taaatgtaca cgaactgatg
     2521 gtgtatatga tgattttagt tgtaatctga tgttttcttt aaaaatttac atatacaaaa
     2581 gtgtttgact caaaaggctt tgttcttccc ttaaaggaag catctaccaa aatgtggcac
     2641 acaaaccttg catggtgtct ctagggcctc ctaccccgca tttcccctgc tttttctctt
     2701 gttctgactg aaaaacaaag tgctttgact gtgctgtgac ccagccagct gcatgtttac
     2761 ccagcatgct tgaacccaag ctggagcctt gaacataaag gtgtttaagt tgttgctcaa
     2821 aatatggaaa gaatctagct ctggccttga accaaatccc ttaaactctc ctataaaact
     2881 ccataacctg accccctcag tgcggatata cctaggcatg acattcttgt tgcctgttgc
     2941 gaggatgctt tagcctactc taagttctcc caataaatgc tttggactga tca
//
LOCUS       NM_001040694            4114 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens inner centromere protein (INCENP), transcript variant
            1, mRNA.
ACCESSION   NM_001040694
VERSION     NM_001040694.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4114)
  AUTHORS   Petsalaki E and Zachos G.
  TITLE     An ATM-Chk2-INCENP pathway activates the abscission checkpoint
  JOURNAL   J Cell Biol 220 (2) (2021)
   PUBMED   33355621
  REMARK    GeneRIF: An ATM-Chk2-INCENP pathway activates the abscission
            checkpoint.
REFERENCE   2  (bases 1 to 4114)
  AUTHORS   Zhang C, Xie L, Fu Y, Yang J and Cui Y.
  TITLE     lncRNA MIAT promotes esophageal squamous cell carcinoma progression
            by regulating miR-1301-3p/INCENP axis and interacting with SOX2
  JOURNAL   J Cell Physiol 235 (11), 7933-7944 (2020)
   PUBMED   31943174
  REMARK    GeneRIF: lncRNA MIAT promotes esophageal squamous cell carcinoma
            progression by regulating miR-1301-3p/INCENP axis and interacting
            with SOX2.
REFERENCE   3  (bases 1 to 4114)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   4  (bases 1 to 4114)
  AUTHORS   Fuchigami T, Ishikawa N, Nozaki I, Miyanari Y, Yoshida S, Yamauchi
            M, Soejima A, Haratake M and Nakayama M.
  TITLE     Discovery of inner centromere protein-derived small peptides for
            cancer imaging and treatment targeting survivin
  JOURNAL   Cancer Sci 111 (4), 1357-1366 (2020)
   PUBMED   31991041
  REMARK    GeneRIF: In this study, we designed and synthesized 7-19 residues of
            inner centromere protein (INCENP)-derived small peptides (INC
            peptides) as novel survivin-targeting agents.
REFERENCE   5  (bases 1 to 4114)
  AUTHORS   Sun M, Veschi V, Bagchi S, Xu M, Mendoza A, Liu Z and Thiele CJ.
  TITLE     Targeting the Chromosomal Passenger Complex Subunit INCENP Induces
            Polyploidization, Apoptosis, and Senescence in Neuroblastoma
  JOURNAL   Cancer Res 79 (19), 4937-4950 (2019)
   PUBMED   31416840
  REMARK    GeneRIF: Dysregulation of INCENP contributes to neuroblastoma
            tumorigenesis
REFERENCE   6  (bases 1 to 4114)
  AUTHORS   Ainsztein AM, Kandels-Lewis SE, Mackay AM and Earnshaw WC.
  TITLE     INCENP centromere and spindle targeting: identification of essential
            conserved motifs and involvement of heterochromatin protein HP1
  JOURNAL   J Cell Biol 143 (7), 1763-1774 (1998)
   PUBMED   9864353
REFERENCE   7  (bases 1 to 4114)
  AUTHORS   Li F, Ambrosini G, Chu EY, Plescia J, Tognin S, Marchisio PC and
            Altieri DC.
  TITLE     Control of apoptosis and mitotic spindle checkpoint by survivin
  JOURNAL   Nature 396 (6711), 580-584 (1998)
   PUBMED   9859993
REFERENCE   8  (bases 1 to 4114)
  AUTHORS   Martineau-Thuillier S, Andreassen PR and Margolis RL.
  TITLE     Colocalization of TD-60 and INCENP throughout G2 and mitosis:
            evidence for their possible interaction in signalling cytokinesis
  JOURNAL   Chromosoma 107 (6-7), 461-470 (1998)
   PUBMED   9914378
REFERENCE   9  (bases 1 to 4114)
  AUTHORS   Earnshaw WC and Mackay AM.
  TITLE     Role of nonhistone proteins in the chromosomal events of mitosis
  JOURNAL   FASEB J 8 (12), 947-956 (1994)
   PUBMED   8088460
  REMARK    Review article
REFERENCE   10  (bases 1 to 4114)
  AUTHORS   Earnshaw WC and Cooke CA.
  TITLE     Analysis of the distribution of the INCENPs throughout mitosis
            reveals the existence of a pathway of structural changes in the
            chromosomes during metaphase and early events in cleavage furrow
            formation
  JOURNAL   J Cell Sci 98 (Pt 4), 443-461 (1991)
   PUBMED   1860899
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC098576.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000394818.8/ ENSP00000378295.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC098576.1, CV569756.1, AW839685.1, BC111732.1 and AP002793.4.
            On Nov 22, 2018 this sequence version replaced NM_001040694.1.
            Summary: In mammalian cells, 2 broad groups of
            centromere-interacting proteins have been described: constitutively
            binding centromere proteins and 'passenger,' or transiently
            interacting, proteins (reviewed by Choo, 1997). The constitutive
            proteins include CENPA (centromere protein A; MIM 117139), CENPB
            (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term
            'passenger proteins' encompasses a broad collection of proteins
            that localize to the centromere during specific stages of the cell
            cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include
            CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213);
            cytoplasmic dynein (e.g., MIM 600112); CliPs (e.g., MIM 179838);
            and CENPF/mitosin (MIM 600236). The inner centromere proteins
            (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial
            members of the passenger protein group, display a broad
            localization along chromosomes in the early stages of mitosis but
            gradually become concentrated at centromeres as the cell cycle
            progresses into mid-metaphase. During telophase, the proteins are
            located within the midbody in the intercellular bridge, where they
            are discarded after cytokinesis (Cutts et al., 1999 [PubMed
            10369859]).[supplied by OMIM, Mar 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4114
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     gene            1..4114
                     /gene="INCENP"
                     /note="inner centromere protein"
                     /db_xref="GeneID:3619"
                     /db_xref="HGNC:HGNC:6058"
                     /db_xref="MIM:604411"
     CDS             165..2921
                     /gene="INCENP"
                     /note="isoform 1 is encoded by transcript variant 1; inner
                     centromere protein INCENP; binds and activates aurora-B and
                     -C in vivo and in vitro; chromosomal passenger protein;
                     inner centromere protein antigens 135/155kDa"
                     /codon_start=1
                     /product="inner centromere protein isoform 1"
                     /protein_id="NP_001035784.1"
                     /db_xref="CCDS:CCDS44624.1"
                     /db_xref="GeneID:3619"
                     /db_xref="HGNC:HGNC:6058"
                     /db_xref="MIM:604411"
                     /translation="MGTTAPGPIHLLELCDQKLMEFLCNMDNKDLVWLEEIQEEAERMF
                     TREFSKEPELMPKTPSQKNRRKKRRISYVQDENRDPIRRRLSRRKSRSSQLSSRRLRSK
                     DSVEKLATVVGENGSVLRRVTRAAAAAAAATMALAAPSSPTPESPTMLTKKPEDNHTQC
                     QLVPVVEIGISERQNAEQHVTQLMSTEPLPRTLSPTPASATAPTSQGIPTSDEESTPKK
                     SKARILESITVSSLMATPQDPKGQGVGTGRSASKLRIAQVSPGPRDSPAFPDSPWRERV
                     LAPILPDNFSTPTGSRTDSQSVRHSPIAPSSPSPQVLAQKYSLVAKQESVVRRASRRLA
                     KKTAEEPAASGRIICHSYLERLLNVEVPQKVGSEQKEPPEEAEPVAAAEPEVPENNGNN
                     SWPHNDTEIANSTPNPKPAASSPETPSAGQQEAKTDQADGPREPPQSARRKRSYKQAVS
                     ELDEEQHLEDEELQPPRSKTPSSPCPASKVVRPLRTFLHTVQRNQMLMTPTSAPRSVMK
                     SFIKRNTPLRMDPKCSFVEKERQRLENLRRKEEAEQLRRQKVEEDKRRRLEEVKLKREE
                     RLRKVLQARERVEQMKEEKKKQIEQKFAQIDEKTEKAKEERLAEEKAKKKAAAKKMEEV
                     EARRKQEEEARRLRWLQQEEEERRHQELLQKKKEEEQERLRKAAEAKRLAEQREQERRE
                     QERREQERREQERREQERREQERQLAEQERRREQERLQAERELQEREKALRLQKEQLQR
                     ELEEKKKKEEQQRLAERQLQEEQEKKAKEAAGASKALNVTVDVQSPACTSYQMTPQGHR
                     APPKINPDNYGMDLNSDDSTDDEAHPRKPIPTWARGTPLSQAIIHQYYHPPNLLELFGT
                     ILPLDLEDIFKKSKPRYHKRTSSAVWNSPPLQGARVPSSLAYSLKKH"
     misc_feature    306..479
                     /gene="INCENP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    378..380
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    519..521
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     phosphorylation site"
     misc_feature    534..908
                     /gene="INCENP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     Region: Interaction with CBX5.
                     /evidence=ECO:0000269|PubMed:21346195"
     misc_feature    576..641
                     /gene="INCENP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    591..593
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    606..608
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    612..614
                     /gene="INCENP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9WU62; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    663..677
                     /gene="INCENP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     Region: PXVXL/I motif.
                     /evidence=ECO:0000305|PubMed:21346195"
     misc_feature    732..923
                     /gene="INCENP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    747..749
                     /gene="INCENP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:15316025; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    753..755
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    759..761
                     /gene="INCENP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    801..803
                     /gene="INCENP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    804..806
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    819..821
                     /gene="INCENP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9WU62; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    879..881
                     /gene="INCENP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    951..953
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    969..971
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    987..989
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    1017..1112
                     /gene="INCENP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1038..1040
                     /gene="INCENP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     phosphorylation site"
     misc_feature    1050..1052
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    1080..1082
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     phosphorylation site"
     misc_feature    1098..1100
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    1104..1106
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    1152..1154
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    1275..1631
                     /gene="INCENP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1362..1364
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    1380..1382
                     /gene="INCENP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    1500..1502
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    1590..1592
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    1596..1598
                     /gene="INCENP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9WU62; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    1602..1604
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9WU62; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    1692..1694
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    1704..1706
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    1755..2459
                     /gene="INCENP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     Region: SAH. /evidence=ECO:0000250|UniProtKB:P53352"
     misc_feature    1983..2084
                     /gene="INCENP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2142..2384
                     /gene="INCENP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2424..2525
                     /gene="INCENP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2628..2855
                     /gene="INCENP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     Region: Interaction with AURKC.
                     /evidence=ECO:0000269|PubMed:27332895"
     misc_feature    2640..2864
                     /gene="INCENP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     Region: IN box. /evidence=ECO:0000305"
     misc_feature    2640..2699
                     /gene="INCENP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NQS7.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2646..2648
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    2655..2657
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    2658..2660
                     /gene="INCENP"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    2838..2840
                     /gene="INCENP"
                     /note="Phosphothreonine, by AURKB and AURKC.
                     /evidence=ECO:0000269|PubMed:12925766,
                     ECO:0000269|PubMed:27332895; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    2841..2843
                     /gene="INCENP"
                     /note="Phosphoserine, by AURKB and AURKC.
                     /evidence=ECO:0000269|PubMed:12925766,
                     ECO:0000269|PubMed:27332895; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    2844..2846
                     /gene="INCENP"
                     /note="Phosphoserine, by AURKB and AURKC.
                     /evidence=ECO:0000269|PubMed:12925766,
                     ECO:0000269|PubMed:27332895, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    2859..2861
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     misc_feature    2904..2906
                     /gene="INCENP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NQS7.3); phosphorylation site"
     regulatory      3252..3257
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INCENP"
                     /note="hexamer: AATAAA"
     polyA_site      3271
                     /gene="INCENP"
                     /note="major polyA site"
     regulatory      3775..3780
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INCENP"
                     /note="hexamer: ATTAAA"
     polyA_site      3798
                     /gene="INCENP"
     regulatory      4082..4087
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INCENP"
                     /note="hexamer: AATAAA"
     polyA_site      4114
                     /gene="INCENP"
ORIGIN
        1 atagttttcg cccgcgctgc gccgcctggt tgctcctccc gtgcggtgag tcccgaaggc
       61 ccggagccaa gtgggtctgg gcaagcgggg ccttacctag ggataccacc ggacttggat
      121 cggagcagcc ttcaggggac gtggcgcagt cgaacagagc caccatgggg acgacggccc
      181 cagggcccat tcacctgctg gagctatgtg accagaagct catggagttt ctctgcaaca
      241 tggataataa ggacttggtg tggcttgagg aaatccaaga ggaggccgag cgcatgttca
      301 ccagagaatt cagcaaagag ccagagctga tgcccaaaac accttctcag aagaaccgac
      361 ggaagaagag acggatttct tatgttcagg atgaaaacag agatcccatc aggagaaggt
      421 tatcccgcag aaagtctcgg agcagccagc tgagctcccg acgcctccgc agcaaggaca
      481 gtgtagagaa gctggctaca gtggtcgggg agaacggctc cgtcctgcgg cgtgtgaccc
      541 gtgctgcggc tgcagctgcc gcggctacca tggcattggc tgcaccttct tcacccaccc
      601 ctgagtctcc cacgatgctg actaagaagc ccgaggataa ccacacccag tgccagctgg
      661 tgcctgtggt ggagatcggc atcagtgagc gccagaatgc tgagcagcat gtcacccagc
      721 tcatgtccac cgagcctctg ccccgcactc tgtccccgac tccagcttca gccacagctc
      781 caacctccca gggcatcccg acatcagatg aggaatcaac acctaagaag tcgaaggcca
      841 ggatactgga gtccatcaca gtgagctccc tgatggctac accccaggac cccaagggtc
      901 aaggggtcgg gacggggcgg tctgcgtcta agctcaggat tgcgcaggtc tcccctggcc
      961 cacgggactc gccagccttt ccagattctc catggcggga gcgggtgctg gctcccatcc
     1021 tgccggataa cttctccacg cccacgggct ctcgcacgga ctctcaatcg gtgcggcaca
     1081 gcccgatcgc cccgtcttcc ccgagtcccc aagtcttagc ccagaagtac tctctggtgg
     1141 ccaaacagga aagtgttgtc cgcagggcga gcagaaggct tgccaagaag actgccgaag
     1201 agccagctgc ctctggccgc atcatctgtc acagttacct ggagaggctc ctgaatgttg
     1261 aggtgcccca gaaagttggt tctgagcaga aggaaccccc cgaggaggct gagcctgtgg
     1321 cggcagctga gccagaggtc cctgagaaca atggaaataa ctcgtggccc cacaatgaca
     1381 cggagattgc caacagcaca cccaacccga agcctgcagc cagcagcccg gaaacaccct
     1441 ctgcagggca gcaagaggcc aagacggacc aagcagatgg acccagagag ccaccgcaga
     1501 gtgccaggag gaagcgcagc tacaagcagg ccgtgagtga gctggacgag gagcagcacc
     1561 tggaggatga ggagctgcag ccccccagga gcaagacccc ttcctcaccc tgcccagcca
     1621 gcaaggtggt acggcccctc cggacctttc tgcacacagt gcagaggaac cagatgctca
     1681 tgaccccgac ctcagcccca cgcagcgtca tgaagtcctt tattaagcgc aacactcccc
     1741 tgcgcatgga ccccaagtgc agcttcgtcg agaaggagcg gcagcgcctg gagaatctgc
     1801 ggcggaagga ggaggccgag cagctgcgca ggcagaaggt ggaggaggac aagcggcggc
     1861 ggctggagga ggtgaagctg aagcgtgagg aacgcctccg caaggtgctg caggcccgcg
     1921 agcgggtgga gcagatgaag gaggagaaga agaagcagat tgagcagaag tttgctcaga
     1981 tcgacgagaa gactgagaag gccaaggagg agcggctggc agaggagaag gccaagaaaa
     2041 aggcggcggc caagaagatg gaggaggtgg aagcacgcag gaagcaggaa gaggaggcac
     2101 gtaggctcag gtggctgcag caggaggagg aagagcggcg gcaccaagag ctgctgcaga
     2161 agaagaagga agaggagcag gagcggctgc ggaaggcggc cgaggctaag cggctggcag
     2221 agcagcggga gcaggagcgg cgggagcagg agcggcgcga gcaggagcgg cgcgagcagg
     2281 agcggcggga gcaggagcgg cgcgagcagg agcgacagct ggcagagcag gagcgtcggc
     2341 gggagcagga gcggctccag gccgagaggg agctgcagga gcgggagaag gccctgcggc
     2401 tgcagaagga gcagctgcag agggaactgg aggagaagaa gaagaaggaa gagcagcagc
     2461 gtctggctga gcggcagctg caggaggagc aagagaagaa agccaaggag gcagcagggg
     2521 ccagcaaggc cctgaatgtg actgtggacg tgcagtctcc agcttgtacc tcatatcaga
     2581 tgactccgca agggcacagg gcccctccca agatcaaccc agataactac gggatggatc
     2641 tgaatagcga cgactccacc gatgatgagg cccatccccg gaagcccatc cccacctggg
     2701 cccgaggcac cccgctcagc caggctatca ttcaccagta ctaccaccca ccgaaccttc
     2761 tggagctctt tggaaccatt ctcccactgg acttggagga tatcttcaag aagagcaagc
     2821 cccgctatca caagcgcacc agctctgctg tctggaactc accgcccctg cagggcgcca
     2881 gggtccccag cagcctggcc tacagcctga agaagcactg aggctggcct gcggccttct
     2941 tggcagcctc gcctcctgtc catgtctatc tgtctgtctg tcggtctctg tcttggtctg
     3001 ttgccctcct tcttggcatg ccattgtgga gggcttggcc aggtgtatat aaacgtcctc
     3061 tgtgctgggt gtttctgctg caggtggcag gtggccccag gcctgtttgg aggatgggct
     3121 gggtgggtgg gtggggaaga aatgggccca gccccacatg gcctgcagac agtgctctgt
     3181 aaatagttgt tttaatttag ctgaatgtta gcattttagt ctttggcatt ttagcgtttg
     3241 ggaggtagat taataaagta tattccttca agcctgctgt tgataccatg aagactgggc
     3301 gcctcagtcc cagccctgta gctgtgtgtc ttgggccacc agtggcctgc aggacgaagg
     3361 tactgttcca tcacctgcgg tgtgcctcag gatcaccagg tgcaggcccc caccctcgga
     3421 gatgctgctg cagtgagtgg ttccactgcc tggataaccc ttgaggaaca cgtcagttac
     3481 tgtcacgatg gggcaggtgg agctccttcc tattttttgg ggtgctccct gtttgtaaag
     3541 gggagtttgt tcattgggaa agacctgggt cttgacacgg ccctgccact tagtccccta
     3601 ccctctccat tccccaggct ccacccgtgc tgctcaggtg caaatggact tgagagcatc
     3661 tatgtgctgg tgaagcatga ggtctgagta gaaaaggggt atcccttgag accaccttgg
     3721 gaccagtgct tgcaagcagc gagatatttc cccagcaaaa ccaggcagct gctaattaaa
     3781 tgcttagaac caatgaaagc tggctgtggt cctgcctgtg agctgcctac tgctgccttc
     3841 tgaatgcata tatctgctac tgtagccccg ggttgtcaaa ctatggcctg tgggccaaat
     3901 ccagccacag tcggttcttt aaagttttat cgaaacacaa gcaatggaaa tgcccatttc
     3961 cattgttgtc tccagttgct ctgctccgag ggcagtgtta agttgtgcag cagaggcccc
     4021 tccatgcaaa gctgaatatg tttactattt gaactttttc agaagttctg cttaaggaca
     4081 aaataaagcc taaatccaag aacactttta aaaa
//
LOCUS       NM_001040697            4207 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD),
            transcript variant 1, mRNA.
ACCESSION   NM_001040697
VERSION     NM_001040697.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4207)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   2  (bases 1 to 4207)
  AUTHORS   Kloor M, Bork P, Duwe A, Klaes R, von Knebel Doeberitz M and Ridder
            R.
  TITLE     Identification and characterization of UEV3, a human cDNA with
            similarities to inactive E2 ubiquitin-conjugating enzymes
  JOURNAL   Biochim Biophys Acta 1579 (2-3), 219-224 (2002)
   PUBMED   12427560
  REMARK    GeneRIF: identification, sequencing and analysis of cDNA in various
            colon carcinoma cell lines as well as normal and tumor samples from
            colon
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.262348.1,
            SRR1660807.158026.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396197.8/ ENSP00000379500.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC112694.12 and AC027544.11.
            On Nov 23, 2018 this sequence version replaced NM_001040697.3.
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4207
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     gene            1..4207
                     /gene="UEVLD"
                     /gene_synonym="ATTP; UEV3"
                     /note="UEV and lactate/malate dehyrogenase domains"
                     /db_xref="GeneID:55293"
                     /db_xref="HGNC:HGNC:30866"
                     /db_xref="MIM:610985"
     misc_feature    60..62
                     /gene="UEVLD"
                     /gene_synonym="ATTP; UEV3"
                     /note="upstream in-frame stop codon"
     CDS             81..1496
                     /gene="UEVLD"
                     /gene_synonym="ATTP; UEV3"
                     /note="isoform a is encoded by transcript variant 1;
                     signaling molecule ATTP; UEV-3; EV and lactate/malate
                     dehydrogenase domain-containing protein"
                     /codon_start=1
                     /product="ubiquitin-conjugating enzyme E2 variant 3 isoform
                     a"
                     /protein_id="NP_001035787.1"
                     /db_xref="CCDS:CCDS41624.1"
                     /db_xref="GeneID:55293"
                     /db_xref="HGNC:HGNC:30866"
                     /db_xref="MIM:610985"
                     /translation="MEFDCEGLRRLLGKYKFRDLTVEELRNVNVFFPHFKYSMDTYVFK
                     DSSQKDLLNFTGTIPVMYQGNTYNIPIRFWILDSHPFAPPICFLKPTANMGILVGKHVD
                     AQGRIYLPYLQNWSHPKSVIVGLIKEMIAKFQEELPMYSLSSSDEARQVDLLAYIAKIT
                     EGVSDTNSKSWANHENKTVNKITVVGGGELGIACTLAISAKGIADRLVLLDLSEGTKGA
                     TMDLEIFNLPNVEISKDLSASAHSKVVIFTVNSLGSSQSYLDVVQSNVDMFRALVPALG
                     HYSQHSVLLVASQPVEIMTYVTWKLSTFPANRVIGIGCNLDSQRLQYIITNVLKAQTSG
                     KEVWVIGEQGEDKVLTWSGQEEVVSHTSQVQLSNRAMELLRVKGQRSWSVGLSVADMVD
                     SIVNNKKKVHSVSALAKGYYDINSEVFLSLPCILGTNGVSEVIKTTLKEDTVTEKLQSS
                     ASSIHSLQQQLKL"
     regulatory      4187..4192
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UEVLD"
                     /gene_synonym="ATTP; UEV3"
                     /note="hexamer: AATAAA"
     polyA_site      4207
                     /gene="UEVLD"
                     /gene_synonym="ATTP; UEV3"
                     /note="major polyA site"
ORIGIN
        1 agcggcttcc gtcctgcagc aagtccggaa gaaggtccgg gggctggagt cctgggacct
       61 agctcgggac cggcctggag atggagttcg actgcgaggg cctgagacgg ctgcttggca
      121 agtacaagtt cagggaccta actgtggaag aactaaggaa tgtaaatgta tttttcccac
      181 atttcaaata ttccatggac acctatgttt ttaaagatag ttctcagaaa gacctgctga
      241 attttactgg cacaattcct gtgatgtatc agggtaatac atataacata ccaattcgtt
      301 tctggatttt ggattctcac cctttcgctc cccctatttg cttcttgaag ccaactgcaa
      361 atatgggaat cttagtcgga aaacatgtgg atgctcaagg cagaatatat ttgccctatc
      421 tccaaaactg gagccatcct aaatctgtca ttgttggatt aattaaagaa atgattgcca
      481 agtttcaaga ggaacttccc atgtattctc tatcatcatc tgatgaggca cggcaggtag
      541 acttgctagc ctatattgca aaaatcactg aaggtgtttc agatacaaat tcaaagagct
      601 gggcaaatca tgagaataaa acagtcaata aaattactgt ggttggaggt ggagaactcg
      661 gtattgcctg cacattagca atttcagcaa agggtattgc agacaggctt gtcctcttag
      721 acctctcaga agggactaaa ggagccacga tggaccttga aatcttcaac cttcctaatg
      781 tggagatcag caaagatttg tctgcctctg ctcattccaa ggtggtgatc ttcacagtca
      841 actctttggg tagttctcag tcgtaccttg atgtggtaca gagcaatgtg gatatgttca
      901 gagcccttgt cccagctctg ggacattata gtcaacacag tgtcctgctc gttgcatctc
      961 aaccagtgga aatcatgacc tatgtaacat ggaaactgag tacatttcct gcaaatcgag
     1021 tgatcggaat tggatgtaat ctggattcac agagattaca gtatattatt acaaatgttt
     1081 tgaaggcaca gacttcaggc aaagaagtat gggttattgg cgagcaagga gaagacaaag
     1141 tgctcacatg gagtggccaa gaagaagtag tgagtcatac ctctcaagtg cagctgtcca
     1201 acagagccat ggaactgcta agagtaaaag gtcaaagatc ctggtctgtt ggactatcag
     1261 tagctgacat ggttgacagt attgtaaaca ataagaagaa agtgcattct gtatcagctt
     1321 tagcaaaggg atattatgat ataaatagtg aagtgttttt aagtttgcct tgcatccttg
     1381 gaaccaatgg agtatctgaa gttatcaaaa ccacactgaa agaagataca gttactgaga
     1441 aactccaaag cagtgcatcc tcaatccaca gtctccaaca acagttaaaa ctttgattct
     1501 caaatgcaat ttgagaggct ggacttctac ctaaagggaa aagtcattta attttaccta
     1561 tatataggtt tgaggatttc tgtatcctgc tacttacttt tacaaactgc ttggttaaag
     1621 tagagggttt cttgattagc tttgtgatgt aaatccttaa ggagttatac aaggagggga
     1681 aaaattaatt ttatttgggg ttcttgagat atctatgctg ttctttaaat ctacagcagg
     1741 ggtaaacatt catctgcagt gtgcatcaat ttaaatcata tatcctaaac taaaagcaca
     1801 attcatactt cgggaatatt ttataagtaa tatatcttta aaagaaaatt accctttgac
     1861 ttttataatc aacataagtt ccaggcccag tatggattta caaaatctgt gtcagttgta
     1921 cattcacagg atccacagct taagttacta atgtttcttg tgtaaaatcc tgttggtagt
     1981 aatagtaaag cattgtattt cccttcttca aattaattac ctaccaaaaa atggaaaaga
     2041 attttacatg cactttaaaa tagtaaaatg gaaagtgaat ttttaaaata tatgcattaa
     2101 aagtttactt taatttccag tgggacttcc tttatgaaat tttccataac ctcttcctgg
     2161 agtattacaa gatctccaac atctcataaa ctaattgtga tattagtgga accataagca
     2221 aatatatatt tttagtggaa atagattatg aatgaaagcc aagcacctta ctttaaagcc
     2281 aaaatatgag attttcatta aaaacattgg tcataatagg gagaggtttt ttatttgttc
     2341 tgagcaaatc ctttaacctc tcctgatgat acagttcaga gtacacacac tttggtgatg
     2401 gatcaagagc aatattttct tatgtgaaag atagcttatt attactattg tgacatacaa
     2461 ctaatagtaa cagttaacat caacacttca tatataccag gcagcatgat aagcacttta
     2521 ttattttact gaatcctcac aacagaccac tgaggtaggg actattgcca tcatcatttt
     2581 ataaaaggaa attgaggttt agtcctcaag aagtcttggc tattaagggg cacttatcca
     2641 tacaacctct actttttcta ggcactaaaa gggggaaaag gcttaatagc caaaatagtt
     2701 atcaaaagac cctaaagctg gggtcctgta caccatgaaa ggattacttt cattctcatg
     2761 taagggcatg cttttataaa aaacaaacat gggctaggcg cagtgactca cgcctgtaat
     2821 cccagcacct tgggaggctg aggcgggcag atcacgaggt caggagattg agatcatcct
     2881 ggctaacatg gtgaaaccct gtctctacta aaaatacaaa aagttagcca ggcgtggtgg
     2941 caggtgcctg tagtcccagc tactcggaag gctgaggcaa gagaatggcg tgaacccggt
     3001 aggtggagct tgcagtgagc agagatcgcg ccactgcact ccagcctggg cgacagagca
     3061 agactccgtc tcaaaaaaaa aaaaaaaaag tttaaaaatt agccaggtgt ggtgatgtgc
     3121 acctgtagtt ccagctactc aggagggtga ggcaggagga tcacttgagc ccagaagttc
     3181 aagattgcaa tgagctatga tcatgctact gcactccagc ctaggcaaca gagtgagacc
     3241 ctgtctctaa aaaaataaaa ataaagcaag catataatag gttaatccag atggagttag
     3301 gagggtttat aagggcagac acatcctagt aaagaggaaa taggcaaact aatgctgttt
     3361 tagtgtaata aggaatgctt ataatgatga actttagtca taaagaaaag gtgaaattat
     3421 attcagtaac ccatgttagg aaagcagaaa actatttaat atgcttggaa agattccaac
     3481 cagagttaac tgaataaaaa ccttggacat ttgaagagaa aagcatttag ttctatctaa
     3541 tttcaatatg cacgtgaatt agttcatgtt actctaacaa tgtattctta ctgtcctttt
     3601 ttatgaaata ggaaagtaaa actgaaagaa ctatttcttg tgtttttaaa actagccttt
     3661 tctaatattt gatatctaat taaagttaga taatatgtaa tatgcttttg aacaataatc
     3721 taaccagaaa atattgtata ataaattacc aagaaatcat tacattaatt ataaaaggaa
     3781 catgtcaata caacaaatgt ttatttaaca cctactgtta ctccaaatac tgtgttagaa
     3841 tttgactatt cgaagatgaa taatagtctt tgccctctgg aaggccacaa tgtagaagta
     3901 attctctgta tcagatattt ccttgagtgt taagtgtatt agtaatcatg ttgtaaatcc
     3961 cagtgtaagt caagaagcaa tatcaccacc accacctccc tatgattttg tgataatttg
     4021 gcattttcaa tgcttgttaa ctttcatgtt ttcattttta tgaaatcatg cagagcttgt
     4081 tataattttt agtggggttt ggattaaaat gcttttttga tgtagcagaa gatacatttt
     4141 ttcccatttt acattgtttt ccttaaatat taagaataat gagtaaaata aactgatttt
     4201 aaaatca
//
LOCUS       NM_001040702             281 bp    mRNA    linear   PRI 19-DEC-2022
DEFINITION  Homo sapiens defensin beta 104B (DEFB104B), mRNA.
ACCESSION   NM_001040702
VERSION     NM_001040702.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 281)
  AUTHORS   Musumeci G, Carnazza ML, Leonardi R and Loreto C.
  TITLE     Expression of beta-defensin-4 in 'an in vivo and ex vivo model' of
            human osteoarthritic knee meniscus
  JOURNAL   Knee Surg Sports Traumatol Arthrosc 20 (2), 216-222 (2012)
   PUBMED   21879330
  REMARK    GeneRIF: Data suggest an activation of b-defensin-4 induction, in
            human knee meniscus by the osteoarthritis inflammatory process as a
            result of an endogenous antibiotic defense mechanism accompanied by
            an intrinsic effort of tissue remodeling.
REFERENCE   2  (bases 1 to 281)
  AUTHORS   Park JJ, Oh BR, Kim JY, Park JA, Kim C, Lee YJ, Song YW, Armour JA
            and Lee EB.
  TITLE     Copy number variation of beta-defensin genes in Behcet's disease
  JOURNAL   Clin Exp Rheumatol 29 (4 Suppl 67), S20-S23 (2011)
   PUBMED   21385545
  REMARK    GeneRIF: Our results suggest that copy number variation of DEFB4 may
            not contribute to the pathogenesis of Behcet's disease.
REFERENCE   3  (bases 1 to 281)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
REFERENCE   4  (bases 1 to 281)
  AUTHORS   Taudien S, Galgoczy P, Huse K, Reichwald K, Schilhabel M, Szafranski
            K, Shimizu A, Asakawa S, Frankish A, Loncarevic IF, Shimizu N,
            Siddiqui R and Platzer M.
  TITLE     Polymorphic segmental duplications at 8p23.1 challenge the
            determination of individual defensin gene repertoires and the
            assembly of a contiguous human reference sequence
  JOURNAL   BMC Genomics 5 (1), 92 (2004)
   PUBMED   15588320
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 281)
  AUTHORS   Boniotto M, Ventura M, Eskdale J, Crovella S and Gallagher G.
  TITLE     Evidence for duplication of the human defensin gene DEFB4 in
            chromosomal region 8p22-23 and implications for the analysis of SNP
            allele distribution
  JOURNAL   Genet Test 8 (3), 325-327 (2004)
   PUBMED   15727258
REFERENCE   6  (bases 1 to 281)
  AUTHORS   Hollox EJ, Armour JA and Barber JC.
  TITLE     Extensive normal copy number variation of a beta-defensin
            antimicrobial-gene cluster
  JOURNAL   Am J Hum Genet 73 (3), 591-600 (2003)
   PUBMED   12916016
REFERENCE   7  (bases 1 to 281)
  AUTHORS   Semple CA, Rolfe M and Dorin JR.
  TITLE     Duplication and selection in the evolution of primate beta-defensin
            genes
  JOURNAL   Genome Biol 4 (5), R31 (2003)
   PUBMED   12734011
REFERENCE   8  (bases 1 to 281)
  AUTHORS   Yamaguchi Y, Nagase T, Makita R, Fukuhara S, Tomita T, Tominaga T,
            Kurihara H and Ouchi Y.
  TITLE     Identification of multiple novel epididymis-specific beta-defensin
            isoforms in humans and mice
  JOURNAL   J Immunol 169 (5), 2516-2523 (2002)
   PUBMED   12193721
REFERENCE   9  (bases 1 to 281)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
REFERENCE   10  (bases 1 to 281)
  AUTHORS   Garcia JR, Krause A, Schulz S, Rodriguez-Jimenez FJ, Kluver E,
            Adermann K, Forssmann U, Frimpong-Boateng A, Bals R and Forssmann
            WG.
  TITLE     Human beta-defensin 4: a novel inducible peptide with a specific
            salt-sensitive spectrum of antimicrobial activity
  JOURNAL   FASEB J 15 (10), 1819-1821 (2001)
   PUBMED   11481241
  REMARK    GeneRIF: Beta-defensin 104 displays antimicrobial activity against
            S. carnosus, E. coli, S. cerevisiae, and P. aeruginosa (strong).
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: GQ891489.1, ERR279833.8229.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03267772
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000316169.2/ ENSP00000322191.2
            Protein has antimicrobial activity :: PMID: 11481241
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC130360.4.
            Summary: Defensins form a family of antimicrobial and cytotoxic
            peptides made by neutrophils. Defensins are short, processed
            peptide molecules that are classified by structure into three
            groups: alpha-defensins, beta-defensins and theta-defensins. All
            beta-defensin genes are densely clustered in four to five syntenic
            chromosomal regions. Chromosome 8p23 contains at least two copies
            of the duplicated beta-defensin cluster. This duplication results
            in two identical copies of defensin, beta 104, DEFB104A and
            DEFB104B, in head-to-head orientation. This gene, DEFB104B,
            represents the more telomeric copy. [provided by RefSeq, Oct 2014].
FEATURES             Location/Qualifiers
     source          1..281
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..281
                     /gene="DEFB104B"
                     /gene_synonym="BD-4; DEFB-4; hBD-4"
                     /note="defensin beta 104B"
                     /db_xref="GeneID:503618"
                     /db_xref="HGNC:HGNC:26165"
     CDS             15..233
                     /gene="DEFB104B"
                     /gene_synonym="BD-4; DEFB-4; hBD-4"
                     /note="beta-defensin 104; beta-defensin 4; defensin, beta
                     104"
                     /codon_start=1
                     /product="beta-defensin 104 precursor"
                     /protein_id="NP_001035792.1"
                     /db_xref="CCDS:CCDS34812.1"
                     /db_xref="GeneID:503618"
                     /db_xref="HGNC:HGNC:26165"
                     /translation="MQRLVLLLAISLLLYQDLPVRSEFELDRICGYGTARCRKKCRSQE
                     YRIGRCPNTYACCLRKWDESLLNRTKP"
     sig_peptide     15..80
                     /gene="DEFB104B"
                     /gene_synonym="BD-4; DEFB-4; hBD-4"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     81..230
                     /gene="DEFB104B"
                     /gene_synonym="BD-4; DEFB-4; hBD-4"
                     /product="beta-defensin 104"
ORIGIN
        1 gcagccccag cattatgcag agacttgtgc tgctattagc catttctctt ctactctatc
       61 aagatcttcc agtgagaagc gaatttgaat tggacagaat atgtggttat gggactgccc
      121 gttgccggaa gaaatgtcgc agccaagaat acagaattgg aagatgtccc aacacctatg
      181 catgctgttt gagaaaatgg gatgagagct tactgaatcg tacaaaaccc tgaaacgcag
      241 tagtgctggt ccctagagtc gctggaagta ggacctcagt a
//
LOCUS       NM_001040703             321 bp    mRNA    linear   PRI 10-SEP-2020
DEFINITION  Homo sapiens defensin beta 105B (DEFB105B), mRNA.
ACCESSION   NM_001040703
VERSION     NM_001040703.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 321)
  AUTHORS   Wanniarachchi YA, Kaczmarek P, Wan A and Nolan EM.
  TITLE     Human defensin 5 disulfide array mutants: disulfide bond deletion
            attenuates antibacterial activity against Staphylococcus aureus
  JOURNAL   Biochemistry 50 (37), 8005-8017 (2011)
   PUBMED   21861459
  REMARK    GeneRIF: Defensin-beta 105 displays antimicrobial activity against
            S. aureus and E. coli, among other bacteria.
REFERENCE   2  (bases 1 to 321)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol. Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
REFERENCE   3  (bases 1 to 321)
  AUTHORS   Taudien S, Galgoczy P, Huse K, Reichwald K, Schilhabel M, Szafranski
            K, Shimizu A, Asakawa S, Frankish A, Loncarevic IF, Shimizu N,
            Siddiqui R and Platzer M.
  TITLE     Polymorphic segmental duplications at 8p23.1 challenge the
            determination of individual defensin gene repertoires and the
            assembly of a contiguous human reference sequence
  JOURNAL   BMC Genomics 5 (1), 92 (2004)
   PUBMED   15588320
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 321)
  AUTHORS   Boniotto M, Ventura M, Eskdale J, Crovella S and Gallagher G.
  TITLE     Evidence for duplication of the human defensin gene DEFB4 in
            chromosomal region 8p22-23 and implications for the analysis of SNP
            allele distribution
  JOURNAL   Genet. Test. 8 (3), 325-327 (2004)
   PUBMED   15727258
REFERENCE   5  (bases 1 to 321)
  AUTHORS   Hollox EJ, Armour JA and Barber JC.
  TITLE     Extensive normal copy number variation of a beta-defensin
            antimicrobial-gene cluster
  JOURNAL   Am. J. Hum. Genet. 73 (3), 591-600 (2003)
   PUBMED   12916016
REFERENCE   6  (bases 1 to 321)
  AUTHORS   Semple CA, Rolfe M and Dorin JR.
  TITLE     Duplication and selection in the evolution of primate beta-defensin
            genes
  JOURNAL   Genome Biol. 4 (5), R31 (2003)
   PUBMED   12734011
REFERENCE   7  (bases 1 to 321)
  AUTHORS   Yamaguchi Y, Nagase T, Makita R, Fukuhara S, Tomita T, Tominaga T,
            Kurihara H and Ouchi Y.
  TITLE     Identification of multiple novel epididymis-specific beta-defensin
            isoforms in humans and mice
  JOURNAL   J. Immunol. 169 (5), 2516-2523 (2002)
   PUBMED   12193721
REFERENCE   8  (bases 1 to 321)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC140937.1, SRR5189667.97321.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000335510.7/ ENSP00000335281.6
            Protein has antimicrobial activity :: PMID: 21861459
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC140937.1 and AC134684.5.
            On May 17, 2019 this sequence version replaced NM_001040703.2.
            Summary: Defensins form a family of antimicrobial and cytotoxic
            peptides made by neutrophils. Defensins are short, processed
            peptide molecules that are classified by structure into three
            groups: alpha-defensins, beta-defensins and theta-defensins. All
            beta-defensin genes are densely clustered in four to five syntenic
            chromosomal regions. Chromosome 8p23 contains at least two copies
            of the duplicated beta-defensin cluster. This duplication results
            in two identical copies of defensin, beta 105, DEFB105A and
            DEFB105B, in tail-to-tail orientation. This gene, DEFB105B,
            represents the more telomeric copy. [provided by RefSeq, Oct 2014].
FEATURES             Location/Qualifiers
     source          1..321
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..321
                     /gene="DEFB105B"
                     /gene_synonym="BD-5; DEFB-5"
                     /note="defensin beta 105B"
                     /db_xref="GeneID:504180"
                     /db_xref="HGNC:HGNC:29930"
     misc_feature    37..39
                     /gene="DEFB105B"
                     /gene_synonym="BD-5; DEFB-5"
                     /note="upstream in-frame stop codon"
     CDS             43..279
                     /gene="DEFB105B"
                     /gene_synonym="BD-5; DEFB-5"
                     /note="beta-defensin 5; defensin, beta 105; beta-defensin
                     105"
                     /codon_start=1
                     /product="beta-defensin 105 precursor"
                     /protein_id="NP_001035793.1"
                     /db_xref="CCDS:CCDS34814.1"
                     /db_xref="GeneID:504180"
                     /db_xref="HGNC:HGNC:29930"
                     /translation="MALIRKTFYFLFAMFFILVQLPSGCQAGLDFSQPFPSGEFAVCES
                     CKLGRGKCRKECLENEKPDGNCRLNFLCCRQRI"
     sig_peptide     43..123
                     /gene="DEFB105B"
                     /gene_synonym="BD-5; DEFB-5"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     124..276
                     /gene="DEFB105B"
                     /gene_synonym="BD-5; DEFB-5"
                     /product="beta-defensin 105"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     21861459]"
ORIGIN
        1 aaggaaatcc caatctctat tccgaagagt cttccctaaa agatggccct gatcaggaag
       61 acattttatt ttctatttgc tatgttcttc attttggttc aactgccatc agggtgccag
      121 gcaggacttg atttttccca accatttcca tcaggtgagt ttgctgtctg tgagtcgtgc
      181 aagcttggtc ggggaaaatg caggaaggag tgcttggaga atgagaagcc cgatggaaat
      241 tgcaggctga actttctctg ctgcagacag aggatctgac aaaccagacc agcacacttc
      301 tggccttaga agcagacctg g
//
LOCUS       NM_001040704             316 bp    mRNA    linear   PRI 01-FEB-2021
DEFINITION  Homo sapiens defensin beta 106B (DEFB106B), mRNA.
ACCESSION   NM_001040704
VERSION     NM_001040704.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 316)
  AUTHORS   Xin A, Zhao Y, Yu H, Shi H, Liu H, Diao H and Zhang Y.
  TITLE     Soluble fusion expression, characterization and localization of
            human beta-defensin 6
  JOURNAL   Mol Med Rep 9 (1), 149-155 (2014)
   PUBMED   24189797
  REMARK    GeneRIF: DEFB106 (also known as DEFB6) displays antimicrobial
            activity against E. coli, C. albicans and S. aureus.
REFERENCE   2  (bases 1 to 316)
  AUTHORS   De Paula VS, Gomes NS, Lima LG, Miyamoto CA, Monteiro RQ, Almeida FC
            and Valente AP.
  TITLE     Structural basis for the interaction of human beta-defensin 6 and
            its putative chemokine receptor CCR2 and breast cancer microvesicles
  JOURNAL   J Mol Biol 425 (22), 4479-4495 (2013)
   PUBMED   23938203
REFERENCE   3  (bases 1 to 316)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
REFERENCE   4  (bases 1 to 316)
  AUTHORS   Taudien S, Galgoczy P, Huse K, Reichwald K, Schilhabel M, Szafranski
            K, Shimizu A, Asakawa S, Frankish A, Loncarevic IF, Shimizu N,
            Siddiqui R and Platzer M.
  TITLE     Polymorphic segmental duplications at 8p23.1 challenge the
            determination of individual defensin gene repertoires and the
            assembly of a contiguous human reference sequence
  JOURNAL   BMC Genomics 5 (1), 92 (2004)
   PUBMED   15588320
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 316)
  AUTHORS   Boniotto M, Ventura M, Eskdale J, Crovella S and Gallagher G.
  TITLE     Evidence for duplication of the human defensin gene DEFB4 in
            chromosomal region 8p22-23 and implications for the analysis of SNP
            allele distribution
  JOURNAL   Genet Test 8 (3), 325-327 (2004)
   PUBMED   15727258
REFERENCE   6  (bases 1 to 316)
  AUTHORS   Hollox EJ, Armour JA and Barber JC.
  TITLE     Extensive normal copy number variation of a beta-defensin
            antimicrobial-gene cluster
  JOURNAL   Am J Hum Genet 73 (3), 591-600 (2003)
   PUBMED   12916016
REFERENCE   7  (bases 1 to 316)
  AUTHORS   Semple CA, Rolfe M and Dorin JR.
  TITLE     Duplication and selection in the evolution of primate beta-defensin
            genes
  JOURNAL   Genome Biol 4 (5), R31 (2003)
   PUBMED   12734011
REFERENCE   8  (bases 1 to 316)
  AUTHORS   Yamaguchi Y, Nagase T, Makita R, Fukuhara S, Tomita T, Tominaga T,
            Kurihara H and Ouchi Y.
  TITLE     Identification of multiple novel epididymis-specific beta-defensin
            isoforms in humans and mice
  JOURNAL   J Immunol 169 (5), 2516-2523 (2002)
   PUBMED   12193721
REFERENCE   9  (bases 1 to 316)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AW103145.1, BX104316.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000335479.2/ ENSP00000334364.2
            Protein has antimicrobial activity :: PMID: 24189797
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC134684.5 and AC130360.4.
            On Aug 14, 2020 this sequence version replaced NM_001040704.1.
            Summary: Defensins form a family of antimicrobial and cytotoxic
            peptides made by neutrophils. Defensins are short, processed
            peptide molecules that are classified by structure into three
            groups: alpha-defensins, beta-defensins and theta-defensins. All
            beta-defensin genes are densely clustered in four to five syntenic
            chromosomal regions. Chromosome 8p23 contains at least two copies
            of the duplicated beta-defensin cluster. This duplication results
            in two identical copies of defensin, beta 106, DEFB106A and
            DEFB106B, in head-to-head orientation. This gene, DEFB106B,
            represents the more telomeric copy. [provided by RefSeq, Oct 2014].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..316
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..316
                     /gene="DEFB106B"
                     /gene_synonym="BD-6; DEFB-6"
                     /note="defensin beta 106B"
                     /db_xref="GeneID:503841"
                     /db_xref="HGNC:HGNC:28879"
     CDS             19..216
                     /gene="DEFB106B"
                     /gene_synonym="BD-6; DEFB-6"
                     /note="beta-defensin 106; beta-defensin 6; defensin, beta
                     106"
                     /codon_start=1
                     /product="beta-defensin 106 precursor"
                     /protein_id="NP_001035794.1"
                     /db_xref="CCDS:CCDS34813.1"
                     /db_xref="GeneID:503841"
                     /db_xref="HGNC:HGNC:28879"
                     /translation="MRTFLFLFAVLFFLTPAKNAFFDEKCNKLKGTCKNNCGKNEELIA
                     LCQKSLKCCRTIQPCGSIID"
     sig_peptide     19..78
                     /gene="DEFB106B"
                     /gene_synonym="BD-6; DEFB-6"
     mat_peptide     79..213
                     /gene="DEFB106B"
                     /gene_synonym="BD-6; DEFB-6"
                     /product="beta-defensin 106"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     24189797]"
ORIGIN
        1 ctcaagaccc acccagtcat gaggactttc ctctttctct ttgccgtgct cttctttctg
       61 accccagcca agaatgcatt ttttgatgag aaatgcaaca aacttaaagg gacatgcaag
      121 aacaattgcg ggaaaaatga agaacttatt gctctctgcc agaagtctct gaaatgctgt
      181 cggaccatcc agccatgtgg gagcattata gattaatgca gaagatttag gtttccagag
      241 aagcatacat aacctagctt ctttttactc ttgcctctgc tgtaggcaga cactttaata
      301 aaaataaatg actgtc
//
LOCUS       NM_001040705             324 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens defensin beta 107B (DEFB107B), mRNA.
ACCESSION   NM_001040705
VERSION     NM_001040705.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 324)
  AUTHORS   Jones EA, Kananurak A, Bevins CL, Hollox EJ and Bakaletz LO.
  TITLE     Copy number variation of the beta defensin gene cluster on
            chromosome 8p influences the bacterial microbiota within the
            nasopharynx of otitis-prone children
  JOURNAL   PLoS One 9 (5), e98269 (2014)
   PUBMED   24867293
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 324)
  AUTHORS   Milanese M, Segat L, Arraes LC, Garzino-Demo A and Crovella S.
  TITLE     Copy number variation of defensin genes and HIV infection in
            Brazilian children
  JOURNAL   J Acquir Immune Defic Syndr 50 (3), 331-333 (2009)
   PUBMED   19194307
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 324)
  AUTHORS   Patil AA, Cai Y, Sang Y, Blecha F and Zhang G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
  REMARK    GeneRIF: This protein is thought to have antimicrobial activity.
REFERENCE   4  (bases 1 to 324)
  AUTHORS   Taudien S, Galgoczy P, Huse K, Reichwald K, Schilhabel M, Szafranski
            K, Shimizu A, Asakawa S, Frankish A, Loncarevic IF, Shimizu N,
            Siddiqui R and Platzer M.
  TITLE     Polymorphic segmental duplications at 8p23.1 challenge the
            determination of individual defensin gene repertoires and the
            assembly of a contiguous human reference sequence
  JOURNAL   BMC Genomics 5 (1), 92 (2004)
   PUBMED   15588320
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 324)
  AUTHORS   Boniotto M, Ventura M, Eskdale J, Crovella S and Gallagher G.
  TITLE     Evidence for duplication of the human defensin gene DEFB4 in
            chromosomal region 8p22-23 and implications for the analysis of SNP
            allele distribution
  JOURNAL   Genet Test 8 (3), 325-327 (2004)
   PUBMED   15727258
REFERENCE   6  (bases 1 to 324)
  AUTHORS   Hollox EJ, Armour JA and Barber JC.
  TITLE     Extensive normal copy number variation of a beta-defensin
            antimicrobial-gene cluster
  JOURNAL   Am J Hum Genet 73 (3), 591-600 (2003)
   PUBMED   12916016
REFERENCE   7  (bases 1 to 324)
  AUTHORS   Semple CA, Rolfe M and Dorin JR.
  TITLE     Duplication and selection in the evolution of primate beta-defensin
            genes
  JOURNAL   Genome Biol 4 (5), R31 (2003)
   PUBMED   12734011
REFERENCE   8  (bases 1 to 324)
  AUTHORS   Yamaguchi Y, Nagase T, Makita R, Fukuhara S, Tomita T, Tominaga T,
            Kurihara H and Ouchi Y.
  TITLE     Identification of multiple novel epididymis-specific beta-defensin
            isoforms in humans and mice
  JOURNAL   J Immunol 169 (5), 2516-2523 (2002)
   PUBMED   12193721
REFERENCE   9  (bases 1 to 324)
  AUTHORS   Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ,
            Casavant TL and McCray PB Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000355602.3/ ENSP00000347810.2
            Protein has antimicrobial activity :: PMID: 16033865
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC134684.5.
            On May 17, 2019 this sequence version replaced NM_001040705.1.
            Summary: Defensins form a family of antimicrobial and cytotoxic
            peptides made by neutrophils. Defensins are short, processed
            peptide molecules that are classified by structure into three
            groups: alpha-defensins, beta-defensins and theta-defensins. All
            beta-defensin genes are densely clustered in four to five syntenic
            chromosomal regions. Chromosome 8p23 contains at least two copies
            of the duplicated beta-defensin cluster. This duplication results
            in two identical copies of defensin, beta 107, DEFB107A and
            DEFB107B, in tail-to-tail orientation. This gene, DEFB107B,
            represents the more telomeric copy. [provided by RefSeq, Oct 2014].
FEATURES             Location/Qualifiers
     source          1..324
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..324
                     /gene="DEFB107B"
                     /gene_synonym="HsT21816"
                     /note="defensin beta 107B"
                     /db_xref="GeneID:503614"
                     /db_xref="HGNC:HGNC:31918"
     CDS             24..236
                     /gene="DEFB107B"
                     /gene_synonym="HsT21816"
                     /note="beta-defensin 107; beta-defensin 7; defensin, beta
                     107"
                     /codon_start=1
                     /product="beta-defensin 107 precursor"
                     /protein_id="NP_001035795.1"
                     /db_xref="CCDS:CCDS43696.1"
                     /db_xref="GeneID:503614"
                     /db_xref="HGNC:HGNC:31918"
                     /translation="MPGAMKIFVFILAALILLAQIFQARTAIHRALISKRMEGHCEAEC
                     LTFEVKIGGCRAELAPFCCKNRKKH"
     sig_peptide     24..101
                     /gene="DEFB107B"
                     /gene_synonym="HsT21816"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     102..233
                     /gene="DEFB107B"
                     /gene_synonym="HsT21816"
                     /product="beta-defensin 107"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     16033865]"
ORIGIN
        1 cttccttcat cagctctcca ctgatgcctg gagccatgaa aatatttgtc tttattttgg
       61 ctgctctcat tcttcttgct caaattttcc aagccaggac agcaattcat agagcactaa
      121 ttagtaagag aatggaaggt cactgtgaag ccgaatgtct tacctttgaa gtaaagattg
      181 ggggctgtag agctgaatta gcaccatttt gctgcaaaaa cagaaagaaa cattaaaaac
      241 taagcaccag ctgcaagaaa caaagaggtg aagattctct ggctgcgata tcagtgggat
      301 aaatctctct ggaccatctc tctt
//
LOCUS       NM_001040709            3703 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens synaptophysin like 2 (SYPL2), mRNA.
ACCESSION   NM_001040709
VERSION     NM_001040709.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3703)
  AUTHORS   Jiao H, Arner P, Gerdhem P, Strawbridge RJ, Naslund E, Thorell A,
            Hamsten A, Kere J and Dahlman I.
  TITLE     Exome sequencing followed by genotyping suggests SYPL2 as a
            susceptibility gene for morbid obesity
  JOURNAL   Eur J Hum Genet 23 (9), 1216-1222 (2015)
   PUBMED   25406998
  REMARK    GeneRIF: SYPL2 is a susceptibility gene for morbid obesity.
REFERENCE   2  (bases 1 to 3703)
  AUTHORS   Chen S, Lu FF, Seeman P and Liu F.
  TITLE     Quantitative proteomic analysis of human substantia nigra in
            Alzheimer's disease, Huntington's disease and Multiple sclerosis
  JOURNAL   Neurochem Res 37 (12), 2805-2813 (2012)
   PUBMED   22926577
REFERENCE   3  (bases 1 to 3703)
  AUTHORS   Satoh K, Akatsu H, Yamamoto T, Kosaka K, Yokota H and Yamada T.
  TITLE     Mitsugumin 29 is transcriptionally induced in senile
            plaque-associated astrocytes
  JOURNAL   Brain Res 1441, 9-16 (2012)
   PUBMED   22290180
  REMARK    GeneRIF: Mitsugumin (MG)29 is expressed in astrocytes of Alzheimer
            disease brains associated with senile plaques, but is is not
            expressed in neurons around lesions.
REFERENCE   4  (bases 1 to 3703)
  AUTHORS   Shi J, Potash JB, Knowles JA, Weissman MM, Coryell W, Scheftner WA,
            Lawson WB, DePaulo JR Jr, Gejman PV, Sanders AR, Johnson JK, Adams
            P, Chaudhury S, Jancic D, Evgrafov O, Zvinyatskovskiy A, Ertman N,
            Gladis M, Neimanas K, Goodell M, Hale N, Ney N, Verma R, Mirel D,
            Holmans P and Levinson DF.
  TITLE     Genome-wide association study of recurrent early-onset major
            depressive disorder
  JOURNAL   Mol Psychiatry 16 (2), 193-201 (2011)
   PUBMED   20125088
REFERENCE   5  (bases 1 to 3703)
  AUTHORS   Kottgen A, Pattaro C, Boger CA, Fuchsberger C, Olden M, Glazer NL,
            Parsa A, Gao X, Yang Q, Smith AV, O'Connell JR, Li M, Schmidt H,
            Tanaka T, Isaacs A, Ketkar S, Hwang SJ, Johnson AD, Dehghan A,
            Teumer A, Pare G, Atkinson EJ, Zeller T, Lohman K, Cornelis MC,
            Probst-Hensch NM, Kronenberg F, Tonjes A, Hayward C, Aspelund T,
            Eiriksdottir G, Launer LJ, Harris TB, Rampersaud E, Mitchell BD,
            Arking DE, Boerwinkle E, Struchalin M, Cavalieri M, Singleton A,
            Giallauria F, Metter J, de Boer IH, Haritunians T, Lumley T,
            Siscovick D, Psaty BM, Zillikens MC, Oostra BA, Feitosa M, Province
            M, de Andrade M, Turner ST, Schillert A, Ziegler A, Wild PS,
            Schnabel RB, Wilde S, Munzel TF, Leak TS, Illig T, Klopp N,
            Meisinger C, Wichmann HE, Koenig W, Zgaga L, Zemunik T, Kolcic I,
            Minelli C, Hu FB, Johansson A, Igl W, Zaboli G, Wild SH, Wright AF,
            Campbell H, Ellinghaus D, Schreiber S, Aulchenko YS, Felix JF,
            Rivadeneira F, Uitterlinden AG, Hofman A, Imboden M, Nitsch D,
            Brandstatter A, Kollerits B, Kedenko L, Magi R, Stumvoll M, Kovacs
            P, Boban M, Campbell S, Endlich K, Volzke H, Kroemer HK, Nauck M,
            Volker U, Polasek O, Vitart V, Badola S, Parker AN, Ridker PM,
            Kardia SL, Blankenberg S, Liu Y, Curhan GC, Franke A, Rochat T,
            Paulweber B, Prokopenko I, Wang W, Gudnason V, Shuldiner AR, Coresh
            J, Schmidt R, Ferrucci L, Shlipak MG, van Duijn CM, Borecki I,
            Kramer BK, Rudan I, Gyllensten U, Wilson JF, Witteman JC,
            Pramstaller PP, Rettig R, Hastie N, Chasman DI, Kao WH, Heid IM and
            Fox CS.
  TITLE     New loci associated with kidney function and chronic kidney disease
  JOURNAL   Nat Genet 42 (5), 376-384 (2010)
   PUBMED   20383146
REFERENCE   6  (bases 1 to 3703)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK293082.1, AB158472.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369872.4/ ENSP00000358888.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB071160.1, DA097637.1, DB291596.1, AI983207.1, DN831287.1 and
            AL355145.31.
            On Nov 22, 2018 this sequence version replaced NM_001040709.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3703
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..3703
                     /gene="SYPL2"
                     /gene_synonym="MG29"
                     /note="synaptophysin like 2"
                     /db_xref="GeneID:284612"
                     /db_xref="HGNC:HGNC:27638"
     misc_feature    29..31
                     /gene="SYPL2"
                     /gene_synonym="MG29"
                     /note="upstream in-frame stop codon"
     CDS             299..1117
                     /gene="SYPL2"
                     /gene_synonym="MG29"
                     /note="mitsugumin 29"
                     /codon_start=1
                     /product="synaptophysin-like protein 2"
                     /protein_id="NP_001035799.1"
                     /db_xref="CCDS:CCDS41365.1"
                     /db_xref="GeneID:284612"
                     /db_xref="HGNC:HGNC:27638"
                     /translation="MSSTESAGRTADKSPRQQVDRLLVGLRWRRLEEPLGFIKVLQWLF
                     AIFAFGSCGSYSGETGAMVRCNNEAKDVSSIIVAFGYPFRLHRIQYEMPLCDEESSSKT
                     MHLMGDFSAPAEFFVTLGIFSFFYTMAALVIYLRFHNLYTENKRFPLVDFCVTVSFTFF
                     WLVAAAAWGKGLTDVKGATRPSSLTAAMSVCHGEEAVCSAGATPSMGLANISVLFGFIN
                     FFLWAGNCWFVFKETPWHGQGQGQDQDQDQDQGQGPSQESAAEQGAVEKQ"
     misc_feature    398..460
                     /gene="SYPL2"
                     /gene_synonym="MG29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXT5.1);
                     transmembrane region"
     misc_feature    647..709
                     /gene="SYPL2"
                     /gene_synonym="MG29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXT5.1);
                     transmembrane region"
     misc_feature    749..811
                     /gene="SYPL2"
                     /gene_synonym="MG29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXT5.1);
                     transmembrane region"
     misc_feature    935..937
                     /gene="SYPL2"
                     /gene_synonym="MG29"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q5VXT5.1); glycosylation site"
     misc_feature    938..1000
                     /gene="SYPL2"
                     /gene_synonym="MG29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXT5.1);
                     transmembrane region"
     misc_feature    1016..1114
                     /gene="SYPL2"
                     /gene_synonym="MG29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VXT5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3673..3678
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYPL2"
                     /gene_synonym="MG29"
                     /note="hexamer: AATAAA"
     polyA_site      3703
                     /gene="SYPL2"
                     /gene_synonym="MG29"
                     /note="major polyA site"
ORIGIN
        1 gacccggcgg ccaagttcgc tgcgagtttg acagaagttt gaatccgagt cgggggcttt
       61 ctgctgccgg cggggcaccg cggcggccgc agcctctgag agcacgaaca gcagcgcccc
      121 cgcgtcccag ccagccagcc agccagactg gactccggcc caccgacggc cgctcgcgct
      181 ccggccccgc tcgcctgctc tgccccggac ctgcagctcc ccgctccccc gccgtgtccg
      241 ccgcctcccg gccagagagc caagccacca cgccgcgccc agcgctcgcc gcgccagcat
      301 gtcctcgacc gagagcgccg gccgcacggc ggacaagtcg ccgcgccagc aggtggaccg
      361 cctactcgtg gggctgcgct ggcggcggct ggaggagccg ctgggcttca tcaaagttct
      421 ccagtggctc tttgctattt tcgccttcgg gtcctgtggc tcctacagcg gggagacagg
      481 agcaatggtt cgctgcaaca acgaagccaa ggacgtgagc tccatcatcg ttgcatttgg
      541 ctatcccttc aggttgcacc ggatccaata tgagatgccc ctctgcgatg aagagtccag
      601 ctccaagacc atgcacctca tgggggactt ctctgcaccc gccgagttct tcgtgaccct
      661 tggcatcttt tccttcttct ataccatggc tgccctagtt atctacctgc gcttccacaa
      721 cctctacaca gagaacaaac gcttcccgct ggtggacttc tgtgtgactg tctccttcac
      781 cttcttctgg ctggtagctg cagctgcctg gggcaagggc ctgaccgatg tcaagggggc
      841 cacacgacca tccagcttga cagcagccat gtcagtgtgc catggagagg aagcagtgtg
      901 cagtgccggg gccacgccct ctatgggcct ggccaacatc tccgtgctct ttggctttat
      961 caacttcttc ctgtgggccg ggaactgttg gtttgtgttc aaggagaccc cgtggcatgg
     1021 acagggccag ggccaggacc aggaccagga ccaggaccag ggccagggtc ccagccagga
     1081 gagtgcagct gagcagggag cagtggagaa gcagtaagca gccccccacc tggctattcc
     1141 cgaactggac agcacctctt caaccacctc cggcttccag gacctttctc ttcctcctcc
     1201 tccaattccc ctcccccatc attctggtct ttgagctttg agacgatggg caggcatcag
     1261 ctgttggaaa cctgggcagc cctctcagtg gcttcctatc ctccttcttg ctggagccat
     1321 gaatggcagg agctcagtgc ttcttgtgca gtgcctggac ccaggtatct tacttggggt
     1381 cttacttgta cccttacagt ctctgagaac cagcctctgc tgcaggtgag ggttgggggc
     1441 aggaaaccag tgctctgaga ctggttccta gcagccacct ttctgtcaac ctgtccggct
     1501 tcaacaatat tagggggaag ggaaatcagc tagtagcctt cccctctggt cccttgtgtg
     1561 gaggccccaa tagtggtttg gcgacccctc ctcagtggct gtcatctagt ccctgcgtct
     1621 gatctccagt catcccatga ctcagtgtgc cttccactgt cttctctggc ctctgcctgc
     1681 ccacagaatc caccatgtgt gaaccagaga ggtccaccag cctagaaaac agcccttcag
     1741 agggtcctga tgaggccttc ctggactcag ctgggagcaa gataaattgc aactgagttg
     1801 cagcttcaag aaagtaaagc cagtaagctt gctggcagaa tcaatttctt ctatcccctc
     1861 aatcctccca cccaccaggc tggggcactt tccaccaaca ctctaaactc tactttagaa
     1921 acgccctatc ttcctccctg tcctccttct tggtctcaca cttgggactc aaaaatgtgg
     1981 agtcaggacc tgcctcctaa tccccttact tctctgtcca tctcccttcc ccagcatcgt
     2041 gcatctgagg catttgagat cctttttgaa gtctgtccag gccttccttt tattcctgtg
     2101 gggccagaca ggggcttagg aagggccaaa ggaccatcat gaggctaagt tgccccagag
     2161 ccccaggatg gatgggccca ttttttcctt attccctgct cagttttttc ccctgctcct
     2221 tctctagtcc ttctttcata tttctccttc tcatcttgaa aacaggatgt tccctcttcc
     2281 cttgctgtcc catttctccc ctgtgtcctt atttctccca gtctctatcc cctctcaagt
     2341 ccagggcagg ccgatgctat tggtgcttct tcactttggg acccagttcc atatttgtct
     2401 ttagtgtata tcctcttcct gatacctcct tcagtccctc tctgggcccc aaggctgaga
     2461 atcagtgtta actgggtaag gatcatttgc ttcctaccca gctcaatctg ccctggccat
     2521 agggcttccc agggaaggaa gaagagggaa gaatccgacc actttccaat ccagtgccaa
     2581 ttggcccact aagcatccta aaggtgaatg tgccctgtgc caatctctcc tcaggactga
     2641 gtcaaccccc ttcaacctcc tcacctctct aaacaccatc catagtaaca tgtgcattac
     2701 tggggtacct aggagtcagg acttttgact tcaggccagt catttcctcc cgatggggaa
     2761 agggtgagat ttacatcccc aaatgcttga gtccctcagt gaaagaatta gtttttgttt
     2821 gtttgtttaa gattttgggg aagagatttg aggaggaaag aaaggagatg gggtgagagg
     2881 gtttttaagt ctgaaactct ctgtcatgag ctgtccccat ggttactcaa ggacaagggg
     2941 ggacagtttt gcctacagct ccagagacac agagaacaaa ggggtgacct tcatttttct
     3001 tcaagccggc ctctgtgggg gtctgtgagc agcttctact ggatctttgt ttggattctg
     3061 tgtctgtatt tataatttat ttgaaatgtg ctgggtagtg ttctcatttg ggggctgaag
     3121 ttagcaactg ggccttcagc tagggaaagc agttgcgggc agggggtggg gggagattat
     3181 attcactcct gccaaggact cccagcccag gactctcttt agagcaagga agcctcgttc
     3241 tctttcttct caagaggctc tcttgttctc catcaggaga gccttgattt aggctacggc
     3301 ctcactctct atggccaccc taagaggaaa ggctacttca cctcattacc tccagagggc
     3361 tgggcagggc caagtgcctc ataggactca tgttctctcc aaccagggct ggcatcactg
     3421 ctttgcaaag tggggcctga ggtagaagaa ggtgtctggt ttctccagct gctgtaggag
     3481 gctaatgggc agggtacttg ccctttgtcc cactagactc taacccagca ccagggtgcc
     3541 cacctaggac ctttcctgga catgagtttc cttcactatc atagtcatga gcctcctact
     3601 tctgggattg cagatcaggg gtggggggag aatgttgcat gttgttttct ggtgcttgtt
     3661 attatatatt tgaataaaca gtgctgcaag tacttgccat gaa
//
LOCUS       NM_001040710            1824 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens family with sequence similarity 228 member A (FAM228A),
            mRNA.
ACCESSION   NM_001040710
VERSION     NM_001040710.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1824)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1824)
  AUTHORS   Greliche N, Germain M, Lambert JC, Cohen W, Bertrand M, Dupuis AM,
            Letenneur L, Lathrop M, Amouyel P, Morange PE and Tregouet DA.
  TITLE     A genome-wide search for common SNP x SNP interactions on the risk
            of venous thrombosis
  JOURNAL   BMC Med Genet 14, 36 (2013)
   PUBMED   23509962
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC050462.1, SRR5189667.245105.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000295150.8/ ENSP00000295150.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY022970.1, BC050462.1 and AC008073.4.
            On Nov 23, 2018 this sequence version replaced NM_001040710.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1824
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..1824
                     /gene="FAM228A"
                     /gene_synonym="C2orf84"
                     /note="family with sequence similarity 228 member A"
                     /db_xref="GeneID:653140"
                     /db_xref="HGNC:HGNC:34418"
     misc_feature    119..121
                     /gene="FAM228A"
                     /gene_synonym="C2orf84"
                     /note="upstream in-frame stop codon"
     CDS             137..757
                     /gene="FAM228A"
                     /gene_synonym="C2orf84"
                     /note="UPF0638 protein C2orf84"
                     /codon_start=1
                     /product="protein FAM228A"
                     /protein_id="NP_001035800.1"
                     /db_xref="CCDS:CCDS42659.1"
                     /db_xref="GeneID:653140"
                     /db_xref="HGNC:HGNC:34418"
                     /translation="MAATKTASYDEHFRPEKLREWPEPESVSLMEVLAREDIDEAVCAI
                     LFKENSIVKVTVPPFVDPLFQRQQEVDEERRTGLQCETGKRHSIKELEEIEKARLHASS
                     PYFTFTSHCVIPKEWHKASARARSKTYKYSPEKLIYADKKQKRKEKKTADLSQAAFERQ
                     FLSSKLSQKNKVGERKGLVSRGLGRGWHAGLCSTHEQHILVPE"
     regulatory      1802..1807
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM228A"
                     /gene_synonym="C2orf84"
                     /note="hexamer: AATATA"
     polyA_site      1824
                     /gene="FAM228A"
                     /gene_synonym="C2orf84"
                     /note="major polyA site"
ORIGIN
        1 atgcgccccg acgctcgggc ccgcgggctc ctttctccgt cgccgctcca ggacgcggcc
       61 tcgggggagc cctaccggga cggagccgcg gggcctgcga cttcccccgg agctggcctg
      121 agggattctc ctgtccatgg ctgccaccaa aactgcgagt tatgatgaac atttcaggcc
      181 agaaaagtta agagaatggc cggagcccga gtccgtttct ttaatggagg tattagctag
      241 agaagacatt gatgaagcag tatgtgcaat attatttaaa gaaaattcca ttgtgaaggt
      301 tacagtccca ccatttgttg atcctctgtt tcaaagacag caagaggtgg atgaagagag
      361 gagaactggt cttcagtgtg agacaggaaa acgacattcc ataaaagaac ttgaagaaat
      421 agagaaggcc aggctgcatg ccagctcgcc ctacttcact ttcacttcac actgtgtgat
      481 tccaaaagag tggcataaag cctctgcaag agccaggagt aaaacttaca aatacagtcc
      541 tgaaaagctc atctatgcag acaagaaaca gaaaagaaaa gagaaaaaga cggccgacct
      601 aagtcaggct gcgtttgaaa ggcagttcct ttcctcaaag ctcagccaga agaacaaagt
      661 gggtgaaaga aagggtctgg tgagcagagg cctggggcgg ggctggcatg cagggctttg
      721 cagcacccac gagcagcaca tactggttcc agaatgagcc accgccacag ccctccctgt
      781 cagacaggca cccaagggcg gaggaggcat ggcccaagaa gaagggtgtg aagaggagga
      841 gggagaaatg gcggtggcct caggctcagc actgcagctc tgacagggcc cctcgggcgg
      901 ggaagccttg catgaagaaa ctcagacaag tggtaaatgt gggacctgga ccccactttc
      961 cggagacatc ctgtccttcc gaggtgaggg ccaacctggc cacaggggct tttccccctg
     1021 agatttcttc agcgccttcg cccgggcctt tgcccttctg ccactttcct accattttcc
     1081 acttactcca tccaaactgc accaaagatg gtgttctcct tagtccacac acaactggtg
     1141 ggaagttttt gaaatgaaat ttataccaaa aaattagggc aagatgagat tttttgatat
     1201 ttaaaaggta tttttatatg taggaatttt ctgagtatgg atttcttatc cagagctcat
     1261 ggttcatttg acacagtttt cagctcctgg tctatttccc cttccattct ctccgccacg
     1321 ccctgtgccc tgaggcctga ggcgcaggac cctcccaggg aaggcctagg gggcttggtg
     1381 ggccaccgct cagctcagga cctgacagcg tcactcccac cctcaccacc acacacacag
     1441 gatgggggac tgctgctgct ttccagcctg tgagcctgga taggtatttt gtgacccagc
     1501 tcctgctcag tcccatcgct gtccccggtc tctccaggga gtaagggatt ctccgtctgt
     1561 ggtaagttac ctgtgactct tcagcagttt cctctgagca taattatatc tgagagcaca
     1621 gggagctcct cattccatgt atttttcaaa tattcaagat gtacaacgtg atgatttgct
     1681 ataggtattc attgtgaaat gtttgccaca gtcaagcttg ttgacatacc caccagctca
     1741 catttactgt tttcgtgtgt gtggtgagaa tactcacaat ctactctctg agcaaactgc
     1801 aaatatatgt tattagtaac tgta
//
LOCUS       NM_001040715            3386 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens microtubule associated tyrosine carboxypeptidase 1
            (MATCAP1), transcript variant 2, mRNA.
ACCESSION   NM_001040715
VERSION     NM_001040715.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3386)
  AUTHORS   Landskron L, Bak J, Adamopoulos A, Kaplani K, Moraiti M, van den
            Hengel LG, Song JY, Bleijerveld OB, Nieuwenhuis J, Heidebrecht T,
            Henneman L, Moutin MJ, Barisic M, Taraviras S, Perrakis A and
            Brummelkamp TR.
  TITLE     Posttranslational modification of microtubules by the MATCAP
            detyrosinase
  JOURNAL   Science 376 (6595), eabn6020 (2022)
   PUBMED   35482892
REFERENCE   2  (bases 1 to 3386)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.45613.1,
            SRR1803615.105694.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000563902.2/ ENSP00000456838.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX460002.2, BC080183.1, BC007594.1 and AC074143.5.
            On Nov 24, 2018 this sequence version replaced NM_001040715.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3386
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..3386
                     /gene="MATCAP1"
                     /gene_synonym="KIAA0895L"
                     /note="microtubule associated tyrosine carboxypeptidase 1"
                     /db_xref="GeneID:653319"
                     /db_xref="HGNC:HGNC:34408"
                     /db_xref="MIM:619978"
     misc_feature    690..692
                     /gene="MATCAP1"
                     /gene_synonym="KIAA0895L"
                     /note="upstream in-frame stop codon"
     CDS             759..2174
                     /gene="MATCAP1"
                     /gene_synonym="KIAA0895L"
                     /EC_number="3.4.17.17"
                     /note="isoform 1 is encoded by transcript variant 2;
                     KIAA0895 like; microtubule-associated tyrosine
                     carboxypeptidase"
                     /codon_start=1
                     /product="microtubule-associated tyrosine carboxypeptidase
                     1 isoform 1"
                     /protein_id="NP_001035805.1"
                     /db_xref="CCDS:CCDS42177.1"
                     /db_xref="GeneID:653319"
                     /db_xref="HGNC:HGNC:34408"
                     /db_xref="MIM:619978"
                     /translation="MVLDSGAQAYDQAPPSPPTSPPSLRHRLKPSDRDGPPLYPWSQSL
                     ALPLALAVPPALQPQPEQQPFSQMLLGHRGHMRRSESTYSVNSTGRRGRGTLGRPPPGR
                     GRNPGGGTLRPAASLPHIAKTQRDAGHIASKSPCMLVALRPTNMDRERDKFFQSHYTYN
                     PQFEYQEPMPTAVLEKYCEASGQFIHQAVGIIEAVLEKFGTYEHFEAATGGQLLTKCQI
                     WSIVRKYMQKEGCAGEVVVQLSEDLLSQAVMMVENSRPTLAINLTGARQYWLEGMLRHE
                     IGTHYLRGVNNARQPWHNAEGRLRYGLRPANPTEEGLASLHSVLFRKQPFLWRAALLYY
                     TIHRAARMSFRQLFQDLERYVQDADVRWEYCVRAKRGQTDTSLPGCFSKDQVYLDGIVR
                     ILRHRQTIDFPLLTSLGKVSYEDVDHLRPHGVLDNTRVPHFMQDLARYRQQLEHIMATN
                     RLDEAELGRLLPD"
     misc_feature    759..878
                     /gene="MATCAP1"
                     /gene_synonym="KIAA0895L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68EN5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    984..1106
                     /gene="MATCAP1"
                     /gene_synonym="KIAA0895L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q68EN5.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3365..3370
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MATCAP1"
                     /gene_synonym="KIAA0895L"
                     /note="hexamer: ATTAAA"
     polyA_site      3386
                     /gene="MATCAP1"
                     /gene_synonym="KIAA0895L"
                     /note="major polyA site"
ORIGIN
        1 gtacgtcatc ggcgacggct cccgccggct gggcgtccgg tggccggtgt agcagagcgg
       61 gagcggcggg cggcgagcag aggagctaac aggtgggggc acggcacgcg gacggacccc
      121 cccaaaggcc gggaggaggc gcgcgacgcg acctttcctg atctcccgga gaagcctcca
      181 ctccattgtc tcctggcccc accctccatt gggcacgccc ttcaccttat cccccaccac
      241 ttattggctg caggtcacgc ccctcctcta tttctggttc cccattggct cttcaccttg
      301 tcctctccgg ggcttctctc cgcacaggcc acaccctctc atttgtcact agaccccgcc
      361 ttaatagtgg ggggctcctc ccccatccat ccttcattca ttatgcaccc agtgctgggt
      421 gcttggtaca cgggggtgaa tcagacccca ttcctgcctt cggggagttc aggggattgt
      481 gggaggacac ggacctagac tccaacagtg acagctctga gtaaagaagt cgccgaagca
      541 gtgggacact agacgcgggg aaggcttcct ggaggaagtg aggcctaaac tgagccttga
      601 agaatggtta agagtttgct ccaggaatat attgcaaagg cattcttggc ggaaggaccc
      661 gagacgtgaa aaaaacaggc gtattctggt aatttcgagg agaggtcgac agtgtgggga
      721 gttggagtga cccggctgga tgtgaccccc aggacagaat ggtgctggac tcaggggctc
      781 aggcgtatga tcaggcaccc cccagcccgc ctaccagtcc cccatccctg cgccataggc
      841 tgaagccctc agaccgagat gggccaccac tgtacccctg gtctcagtcc ctggccttgc
      901 ccctggctct ggcagtcccc ccagcgctgc agccccagcc tgagcagcag ccgttctcac
      961 agatgctcct gggccaccgt ggccacatgc gtcgcagtga gagcacctac tctgtaaata
     1021 gtactggccg gcgggggcgt ggcaccctgg gacggcctcc acctggacgg ggacggaacc
     1081 caggtggggg caccctgcgg cctgcagcct ccctgcctca cattgctaag actcaaaggg
     1141 atgcaggcca tattgccagc aagagcccct gcatgttggt ggccctgcgg ccaaccaaca
     1201 tggaccgtga gcgagacaag ttcttccagt cccattacac ctacaatcca cagtttgagt
     1261 accaggagcc catgcccacg gctgtgctgg aaaagtactg cgaggcctct ggacagttca
     1321 tccatcaggc agttggcatc attgaggctg ttctggagaa gtttggaacc tatgaacact
     1381 ttgaggctgc cactgggggg cagctgctca ccaagtgcca gatatggtcg attgtgcgca
     1441 aatacatgca gaaggagggc tgcgctgggg aggttgtggt gcagctgagt gaggacctgc
     1501 tgtcccaggc agtgatgatg gtggagaaca gccggcccac attggcgatc aacctgaccg
     1561 gagcccgcca gtactggttg gagggcatgc tgcggcatga gataggcacc cactacctgc
     1621 ggggcgtgaa caacgcgcgc cagccgtggc acaacgcgga gggccggctg cggtacgggc
     1681 tgcggccggc gaaccccacg gaggagggcc tggccagcct gcacagcgtg ctgttccgca
     1741 agcagccgtt cctgtggcgc gctgcactgc tctactacac catccaccgc gccgcgcgca
     1801 tgtccttccg tcagctcttc caggacctgg agcgctacgt gcaggacgcc gatgtgcgct
     1861 gggagtactg cgtgcgcgcc aagcgcggcc agaccgacac ctcgctgcca ggttgtttca
     1921 gcaaggacca ggtgtacctg gacggcatcg tgcgcattct gcgacatcgc cagaccatcg
     1981 atttcccgtt gctgacctca ctgggcaagg tgtcctatga ggatgtggac cacctgcggc
     2041 cccatggggt gctggataat acccgggtgc cccacttcat gcaggacttg gcacgctacc
     2101 ggcagcagct ggagcacatc atggccacca accggctgga tgaggcggag ctgggtcgcc
     2161 tgctacccga ctgatgtccg ttgagggctg cagtcagagg ccctggacag aagctccaga
     2221 taggccccta gaacatgaag cagtttgctc tgtgcgtcca cggcctaggt gtttcttggg
     2281 ggtgttggga gggcaggagc attccttgag gaggagtggc aacatcaaag tgtttgtgtc
     2341 ccttgccagc ctccctgggg tctggggacc tgcagcagca tgtctggcaa actgagtcgc
     2401 cctcctgcct ccagctctct gttgagcaga gggaaggcat gggggcagga agagagctga
     2461 gcattgatgg ggatgggggt ggtttgggaa tagaaacttg ttcttgcatg agatggcttt
     2521 ggttgtccca gtactccagt ctctcccttc ccttacctgg ccccttggtg ctccttcagc
     2581 atttgtgctg tctacctctc actgggtcct ggtgggggtc gggctccctt ctcctggggt
     2641 gattgatggc ctgagcctgg ggtcctggta gtagagaccc agctggcctg gggtctgctt
     2701 tccgacattt tgcctctctc actggtcatg tatttattcc atatttatat ggtctacttc
     2761 ctgtggctgg gagcagcagc tcctgaaggt tccgtggggg tgcggggggt tggacaggac
     2821 actccttctt ggaaggcacc aattttccca gccccactcc cattacacac acacacacac
     2881 acacacacac acacacacac acacacacac acacacacac acacacacac tgattcaggc
     2941 cttgagagtc aagcccaaga gctcccttgg ccctgttccc cactccctcc actggcctct
     3001 gctgttcctg tctttgctca caccctcaca gctgctctct ggcagaggtt ggcatagcct
     3061 aggagcagct gcaattgcac ctgagggaca ggccctagag tttggtggcc caagtcctga
     3121 acccctctta gaccaggtga ggtgcagagg tggttgctgc ttccagtttc ccttcagact
     3181 tagctgtgtg aaccccactc ctatcctttg gccttagttt tcccatctgt aaaactcaga
     3241 aacgcagttg gaaagtcctt attcatttag taagcgaata tattataata tgtatagagc
     3301 gccttttgtg taagtcactg gtcagaatcc tcactgagct cccagtccag agagaagcca
     3361 gacaattaaa acagtaatga caatga
//
LOCUS       NM_001040716            4305 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens pyruvate carboxylase (PC), transcript variant 3, mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_001040716
VERSION     NM_001040716.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4305)
  AUTHORS   Wang C, Zhao D, Shu X, Wang K, Wang T, Lin X, Zhang D, Xia T, Qian
            S, Tang M, Yang W, Hu A and Zhao Q.
  TITLE     Protective effects of all-trans retinoic acid against gastric
            premalignant lesions by repressing exosomal LncHOXA10-pyruvate
            carboxylase axis
  JOURNAL   J Cancer Res Clin Oncol 148 (1), 121-135 (2022)
   PUBMED   34632533
  REMARK    GeneRIF: Protective effects of all-trans retinoic acid against
            gastric premalignant lesions by repressing exosomal
            LncHOXA10-pyruvate carboxylase axis.
REFERENCE   2  (bases 1 to 4305)
  AUTHORS   Gondas,E., Hives,M., Kliment,J., Kmetova Sivonova,M., Dobrota,D. and
            Murin,R.
  TITLE     The ubiquitous expression of pyruvate carboxylase among human
            prostate tumors
  JOURNAL   Bratisl Lek Listy 123 (7), 487-490 (2022)
   PUBMED   35907054
  REMARK    GeneRIF: The ubiquitous expression of pyruvate carboxylase among
            human prostate tumors.
REFERENCE   3  (bases 1 to 4305)
  AUTHORS   Schworer S, Pavlova NN, Cimino FV, King B, Cai X, Sizemore GM and
            Thompson CB.
  TITLE     Fibroblast pyruvate carboxylase is required for collagen production
            in the tumour microenvironment
  JOURNAL   Nat Metab 3 (11), 1484-1499 (2021)
   PUBMED   34764457
  REMARK    GeneRIF: Fibroblast pyruvate carboxylase is required for collagen
            production in the tumour microenvironment.
REFERENCE   4  (bases 1 to 4305)
  AUTHORS   Igelmann S, Lessard F, Uchenunu O, Bouchard J, Fernandez-Ruiz A,
            Rowell MC, Lopes-Paciencia S, Papadopoli D, Fouillen A, Ponce KJ,
            Huot G, Mignacca L, Benfdil M, Kalegari P, Wahba HM, Pencik J, Vuong
            N, Quenneville J, Guillon J, Bourdeau V, Hulea L, Gagnon E, Kenner
            L, Moriggl R, Nanci A, Pollak MN, Omichinski JG, Topisirovic I and
            Ferbeyre G.
  TITLE     A hydride transfer complex reprograms NAD metabolism and bypasses
            senescence
  JOURNAL   Mol Cell 81 (18), 3848-3865 (2021)
   PUBMED   34547241
REFERENCE   5  (bases 1 to 4305)
  AUTHORS   Lao-On U, Cliff TS, Dalton S and Jitrapakdee S.
  TITLE     Pyruvate carboxylase supports basal ATP-linked respiration in human
            pluripotent stem cell-derived brown adipocytes
  JOURNAL   Biochem Biophys Res Commun 569, 139-146 (2021)
   PUBMED   34245978
  REMARK    GeneRIF: Pyruvate carboxylase supports basal ATP-linked respiration
            in human pluripotent stem cell-derived brown adipocytes.
REFERENCE   6  (bases 1 to 4305)
  AUTHORS   Walker ME, Baker E, Wallace JC and Sutherland GR.
  TITLE     Assignment of the human pyruvate carboxylase gene (PC) to 11q13.4 by
            fluorescence in situ hybridisation
  JOURNAL   Cytogenet Cell Genet 69 (3-4), 187-189 (1995)
   PUBMED   7698008
REFERENCE   7  (bases 1 to 4305)
  AUTHORS   Wang,D. and De Vivo,D.
  TITLE     Pyruvate Carboxylase Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301764
REFERENCE   8  (bases 1 to 4305)
  AUTHORS   Peng L, Hertz L, Huang R, Sonnewald U, Petersen SB, Westergaard N,
            Larsson O and Schousboe A.
  TITLE     Utilization of glutamine and of TCA cycle constituents as precursors
            for transmitter glutamate and GABA
  JOURNAL   Dev Neurosci 15 (3-5), 367-377 (1993)
   PUBMED   7805591
  REMARK    Review article
REFERENCE   9  (bases 1 to 4305)
  AUTHORS   Lamhonwah,A.M., Quan,F. and Gravel,R.A.
  TITLE     Sequence homology around the biotin-binding site of human
            propionyl-CoA carboxylase and pyruvate carboxylase
  JOURNAL   Arch Biochem Biophys 254 (2), 631-636 (1987)
   PUBMED   3555348
REFERENCE   10  (bases 1 to 4305)
  AUTHORS   Freytag,S.O. and Collier,K.J.
  TITLE     Molecular cloning of a cDNA for human pyruvate carboxylase.
            Structural relationship to other biotin-containing carboxylases and
            regulation of mRNA content in differentiating preadipocytes
  JOURNAL   J Biol Chem 259 (20), 12831-12837 (1984)
   PUBMED   6548474
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.145698.1,
            SRR1803617.27410.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000393960.7/ ENSP00000377532.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003176.2, DA542083.1,
            CN267865.1, BC011617.2 and AP000485.5.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001040716.1.
            Summary: This gene encodes pyruvate carboxylase, which requires
            biotin and ATP to catalyse the carboxylation of pyruvate to
            oxaloacetate. The active enzyme is a homotetramer arranged in a
            tetrahedron which is located exclusively in the mitochondrial
            matrix. Pyruvate carboxylase is involved in gluconeogenesis,
            lipogenesis, insulin secretion and synthesis of the
            neurotransmitter glutamate. Mutations in this gene have been
            associated with pyruvate carboxylase deficiency. Alternatively
            spliced transcript variants with different 5' UTRs, but encoding
            the same protein, have been found for this gene. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (3) also results from the use of a
            more distal promoter, however, it contains an additional 5'
            non-coding exon, hence has a longer 5' UTR compared to transcript
            variant 1. Transcript variants 1-3 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4305
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..4305
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="pyruvate carboxylase"
                     /db_xref="GeneID:5091"
                     /db_xref="HGNC:HGNC:8636"
                     /db_xref="MIM:608786"
     misc_feature    209..211
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="upstream in-frame stop codon"
     CDS             290..3826
                     /gene="PC"
                     /gene_synonym="PCB"
                     /EC_number="6.4.1.1"
                     /note="pyruvate carboxylase, mitochondrial; pyruvic
                     carboxylase"
                     /codon_start=1
                     /product="pyruvate carboxylase, mitochondrial precursor"
                     /protein_id="NP_001035806.1"
                     /db_xref="CCDS:CCDS8152.1"
                     /db_xref="GeneID:5091"
                     /db_xref="HGNC:HGNC:8636"
                     /db_xref="MIM:608786"
                     /translation="MLKFRTVHGGLRLLGIRRTSTAPAASPNVRRLEYKPIKKVMVANR
                     GEIAIRVFRACTELGIRTVAIYSEQDTGQMHRQKADEAYLIGRGLAPVQAYLHIPDIIK
                     VAKENNVDAVHPGYGFLSERADFAQACQDAGVRFIGPSPEVVRKMGDKVEARAIAIAAG
                     VPVVPGTDAPITSLHEAHEFSNTYGFPIIFKAAYGGGGRGMRVVHSYEELEENYTRAYS
                     EALAAFGNGALFVEKFIEKPRHIEVQILGDQYGNILHLYERDCSIQRRHQKVVEIAPAA
                     HLDPQLRTRLTSDSVKLAKQVGYENAGTVEFLVDRHGKHYFIEVNSRLQVEHTVTEEIT
                     DVDLVHAQIHVAEGRSLPDLGLRQENIRINGCAIQCRVTTEDPARSFQPDTGRIEVFRS
                     GEGMGIRLDNASAFQGAVISPHYDSLLVKVIAHGKDHPTAATKMSRALAEFRVRGVKTN
                     IAFLQNVLNNQQFLAGTVDTQFIDENPELFQLRPAQNRAQKLLHYLGHVMVNGPTTPIP
                     VKASPSPTDPVVPAVPIGPPPAGFRDILLREGPEGFARAVRNHPGLLLMDTTFRDAHQS
                     LLATRVRTHDLKKIAPYVAHNFSKLFSMENWGGATFDVAMRFLYECPWRRLQELRELIP
                     NIPFQMLLRGANAVGYTNYPDNVVFKFCEVAKENGMDVFRVFDSLNYLPNMLLGMEAAG
                     SAGGVVEAAISYTGDVADPSRTKYSLQYYMGLAEELVRAGTHILCIKDMAGLLKPTACT
                     MLVSSLRDRFPDLPLHIHTHDTSGAGVAAMLACAQAGADVVDVAADSMSGMTSQPSMGA
                     LVACTRGTPLDTEVPMERVFDYSEYWEGARGLYAAFDCTATMKSGNSDVYENEIPGGQY
                     TNLHFQAHSMGLGSKFKEVKKAYVEANQMLGDLIKVTPSSKIVGDLAQFMVQNGLSRAE
                     AEAQAEELSFPRSVVEFLQGYIGVPHGGFPEPFRSKVLKDLPRVEGRPGASLPPLDLQA
                     LEKELVDRHGEEVTPEDVLSAAMYPDVFAHFKDFTATFGPLDSLNTRLFLQGPKIAEEF
                     EVELERGKTLHIKALAVSDLNRAGQRQVFFELNGQLRSILVKDTQAMKEMHFHPKALKD
                     VKGQIGAPMPGKVIDIKVVAGAKVAKGQPLCVLSAMKMETVVTSPMEGTVRKVHVTKDM
                     TLEGDDLILEIE"
     transit_peptide 290..349
                     /gene="PC"
                     /gene_synonym="PCB"
     mat_peptide     350..3823
                     /gene="PC"
                     /gene_synonym="PCB"
                     /product="pyruvate carboxylase, mitochondrial"
     misc_feature    392..394
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    404..406
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    524..526
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    731..733
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    743..745
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    1010..1012
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    1178..1180
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    1244..1246
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    1589..1591
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    2054..2056
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    2270..2272
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    2438..2440
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    2531..2533
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    2963..2965
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    3194..3196
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    3263..3265
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    3296..3298
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P52873; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); phosphorylation site"
     misc_feature    3470..3472
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    3557..3559
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     misc_feature    3659..3661
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q05920; propagated from
                     UniProtKB/Swiss-Prot (P11498.2); acetylation site"
     regulatory      4178..4183
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="hexamer: AATAAA"
     polyA_site      4200
                     /gene="PC"
                     /gene_synonym="PCB"
                     /note="major polyA site"
     polyA_site      4305
                     /gene="PC"
                     /gene_synonym="PCB"
ORIGIN
        1 gttctctgtc agtggaggca gcagcggtag aggcggcggc gaggactggc gacggcgagg
       61 agctgccttc tagtctcacc tgtggacact ttgccaaagg agtcgggcct gacggtggaa
      121 gatgggaaat ggccaaaaga ataaaccatt tcctcttact taccgaatga aaagcttgct
      181 tcatcttggc gttcaagact ctctaatatg attccacctg ttgggctctt tcttccattt
      241 gcctccgcag atagtgtctg ccttctggag agctgaccaa acactaagga tgctgaagtt
      301 ccgaacagtc catgggggcc tgaggctcct gggaatccgc cgaacctcca ccgcccccgc
      361 tgcctcccca aatgtccggc gcctggagta taagcccatc aagaaagtca tggtggccaa
      421 cagaggtgag attgccatcc gtgtgttccg ggcctgcacg gagctgggca tccgcaccgt
      481 agccatctac tctgagcagg acacgggcca gatgcaccgg cagaaagcag atgaagccta
      541 tctcatcggc cgcggcctgg cccccgtgca ggcctacctg cacatcccag acatcatcaa
      601 ggtggccaag gagaacaacg tagatgcagt gcaccctggc tacgggttcc tctctgagcg
      661 agcggacttc gcccaggcct gccaggatgc aggggtccgg tttattgggc caagcccaga
      721 agtggtccgc aagatgggag acaaggtgga ggcccgggcc atcgccattg ctgcgggtgt
      781 tcccgttgtc cctggcacag atgcccccat cacgtccctg catgaggccc acgagttctc
      841 caacacctac ggcttcccca tcatcttcaa ggcggcctat gggggtggag ggcgtggcat
      901 gagggtggtg cacagctacg aggagctgga ggagaattac acccgggcct actcagaggc
      961 tctggccgcc tttgggaatg gggcgctgtt tgtggagaag ttcatcgaga agccacggca
     1021 catcgaggtg cagatcttgg gggaccagta tgggaacatc ctgcacctgt acgagcgaga
     1081 ctgctccatc cagcggcggc accagaaggt ggtcgagatt gcccccgccg cccacctgga
     1141 cccgcagctt cggactcggc tcaccagcga ctctgtgaaa ctcgctaaac aggtgggcta
     1201 cgagaacgca ggcaccgtgg agttcctggt ggacaggcac ggcaagcact acttcatcga
     1261 ggtcaactcc cgcctgcagg tggagcacac ggtcacagag gagatcaccg acgtagacct
     1321 ggtccatgct cagatccacg tggctgaggg caggagccta cccgacctgg gcctgcggca
     1381 ggagaacatc cgcatcaacg ggtgtgccat ccagtgccgg gtcaccaccg aggaccccgc
     1441 gcgcagcttc cagccggaca ccggccgcat tgaggtgttc cggagcggag agggcatggg
     1501 catccgcctg gataatgctt ccgccttcca aggagccgtc atctcgcccc actacgactc
     1561 cctgctggtc aaagtcattg cccacggcaa agaccacccc acggccgcca ccaagatgag
     1621 cagggccctt gcggagttcc gcgtccgagg tgtgaagacc aacatcgcct tcctgcagaa
     1681 tgtgctcaac aaccagcagt tcctggcagg cactgtggac acccagttca tcgacgagaa
     1741 cccagagctg ttccagctgc ggcctgcaca gaaccgggcc caaaagctgt tgcactacct
     1801 cggccatgtc atggtaaacg gtccaaccac cccgattccc gtcaaggcca gccccagccc
     1861 cacggacccc gttgtccctg cagtgcccat aggcccgccc ccggctggtt tcagagacat
     1921 cctgctgcga gaggggcctg agggctttgc tcgagctgtg cggaaccacc cggggctgct
     1981 gctgatggac acgaccttca gggacgccca ccagtcactg ctggccactc gtgtgcgcac
     2041 ccacgatctc aaaaagatcg ccccctatgt tgcccacaac ttcagcaagc tcttcagcat
     2101 ggagaactgg ggaggagcca cgtttgacgt cgccatgcgc ttcctgtatg agtgcccctg
     2161 gcggcggctg caggagctcc gggagctcat ccccaacatc cctttccaga tgctgctgcg
     2221 gggggccaat gctgtgggct acaccaacta cccagacaac gtggtcttca agttctgtga
     2281 agtggccaaa gagaatggca tggatgtctt ccgtgtgttt gactccctca actacttgcc
     2341 caacatgctg ctgggcatgg aggcggcagg aagtgccgga ggcgtggtgg aggctgccat
     2401 ctcatacacg ggcgacgtgg ccgaccccag ccgcaccaag tactcactgc agtactacat
     2461 gggcttggcc gaagagctgg tgcgagctgg cacccacatc ctgtgcatca aggacatggc
     2521 cgggctgctg aagcccacgg cctgcaccat gctggtcagc tccctccggg accgcttccc
     2581 cgacctccca ctgcacatcc acacccacga cacgtcaggg gcaggcgtgg cagccatgct
     2641 ggcctgtgcc caggctggag ctgatgtggt ggatgtggca gctgattcca tgtctgggat
     2701 gacttcacag cccagcatgg gggccctggt ggcctgtacc agagggactc ccctggacac
     2761 agaggtgccc atggagcgcg tgtttgacta cagtgagtac tgggaggggg ctcggggact
     2821 gtacgcggcc ttcgactgca cggccaccat gaagtctggc aactcggacg tgtatgaaaa
     2881 tgagatccca gggggccagt acaccaacct gcacttccag gcccacagca tggggcttgg
     2941 ctccaagttc aaggaggtca agaaggccta tgtggaggcc aaccagatgc tgggcgatct
     3001 catcaaggtg acgccctcct ccaagatcgt gggggacctg gcccagttta tggtgcagaa
     3061 tggattgagc cgggcagagg ccgaagctca ggcggaagag ctgtcctttc cccgctccgt
     3121 ggtggagttc ctgcagggct acatcggtgt cccccatggg gggttccccg aaccctttcg
     3181 ctctaaggta ctgaaggacc tgccaagggt ggaggggcgg cctggagcct ccctccctcc
     3241 cctggatctg caggcactgg agaaggagct ggtagaccgg catggggagg aggtgacgcc
     3301 ggaagatgtg ctctcagcag ctatgtaccc cgatgtgttt gcccacttca aggacttcac
     3361 tgccaccttt ggccccctgg atagcctgaa tactcgcctc ttcctgcagg gacccaagat
     3421 cgcagaggag tttgaggtgg agctggagcg gggcaagacg ctgcacatca aagccctggc
     3481 cgtgagcgac ctgaaccggg ccggccagag gcaggtcttc tttgagctca atgggcagct
     3541 gcggtccatc ttggtcaagg acacccaggc catgaaggag atgcacttcc accccaaggc
     3601 cctaaaggac gtgaagggcc agatcggggc gcccatgcct gggaaggtga tagacatcaa
     3661 agtggtggca ggggccaagg tggccaaggg ccagcccctg tgtgtgctca gtgccatgaa
     3721 gatggagact gtggtgacct cacccatgga gggtactgtc cgcaaggttc atgtgaccaa
     3781 ggacatgaca ctggaaggtg acgacctcat cctggagatc gagtgatctt gccccagacc
     3841 ggcagcctgg ccatccccaa gccttcaaca gaagctgtgc tgccacggca ggcccaggcc
     3901 agccagtgcc cgaggccagg aaggccgggc cgtggaggtc ctgtccacag ctggacagga
     3961 gagacaccgc ctgcggtggt tcattccttt cagccatcgt cctttcctcc ggcggacagc
     4021 tgcttacatg ttcatctctt gccaaataag ggtcccctcc tcactggaga ctacaagtgg
     4081 tgggtcaggt ggtcctagga cccaggggag gtttaggggt cctatctcct gggggaaggg
     4141 gagatctaag atgtcccagg tcctgggaag tttactcaat aaagctggct ttcccctgcc
     4201 ctccatgctg gatcctgtgc agcccccagc ctgcaccact cagcagtggg gggctgcctt
     4261 tcaagctccc catgggtggg caggtcagtt gtgtcgttct cctca
//
LOCUS       NM_001040874             534 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens H2A clustered histone 19 (H2AC19), mRNA.
ACCESSION   NM_001040874
VERSION     NM_001040874.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 534)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 534)
  AUTHORS   Valencia AM, Collings CK, Dao HT, St Pierre R, Cheng YC, Huang J,
            Sun ZY, Seo HS, Mashtalir N, Comstock DE, Bolonduro O, Vangos NE,
            Yeoh ZC, Dornon MK, Hermawan C, Barrett L, Dhe-Paganon S, Woolf CJ,
            Muir TW and Kadoch C.
  TITLE     Recurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch
            Interaction Site That Potentiates mSWI/SNF Complex Chromatin
            Remodeling
  JOURNAL   Cell 179 (6), 1342-1356 (2019)
   PUBMED   31759698
REFERENCE   3  (bases 1 to 534)
  AUTHORS   Sadakierska-Chudy A, Kostrzewa RM and Filip M.
  TITLE     A comprehensive view of the epigenetic landscape part I: DNA
            methylation, passive and active DNA demethylation pathways and
            histone variants
  JOURNAL   Neurotox Res 27 (1), 84-97 (2015)
   PUBMED   25362550
  REMARK    Review article
REFERENCE   4  (bases 1 to 534)
  AUTHORS   de Mateo S, Castillo J, Estanyol JM, Ballesca JL and Oliva R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   5  (bases 1 to 534)
  AUTHORS   Bonenfant D, Coulot M, Towbin H, Schindler P and van Oostrum J.
  TITLE     Characterization of histone H2A and H2B variants and their
            post-translational modifications by mass spectrometry
  JOURNAL   Mol Cell Proteomics 5 (3), 541-552 (2006)
   PUBMED   16319397
REFERENCE   6  (bases 1 to 534)
  AUTHORS   Boyne MT 2nd, Pesavento JJ, Mizzen CA and Kelleher NL.
  TITLE     Precise characterization of human histones in the H2A gene family by
            top down mass spectrometry
  JOURNAL   J Proteome Res 5 (2), 248-253 (2006)
   PUBMED   16457589
REFERENCE   7  (bases 1 to 534)
  AUTHORS   Braastad CD, Hovhannisyan H, van Wijnen AJ, Stein JL and Stein GS.
  TITLE     Functional characterization of a human histone gene cluster
            duplication
  JOURNAL   Gene 342 (1), 35-40 (2004)
   PUBMED   15527963
REFERENCE   8  (bases 1 to 534)
  AUTHORS   Marzluff WF, Gongidi P, Woods KR, Jin J and Maltais LJ.
  TITLE     The human and mouse replication-dependent histone genes
  JOURNAL   Genomics 80 (5), 487-498 (2002)
   PUBMED   12408966
REFERENCE   9  (bases 1 to 534)
  AUTHORS   Mannironi C, Orr A, Hatch C, Pilch D, Ivanova V and Bonner W.
  TITLE     The relative expression of human histone H2A genes is similar in
            different types of proliferating cells
  JOURNAL   DNA Cell Biol 13 (2), 161-170 (1994)
   PUBMED   8179821
REFERENCE   10  (bases 1 to 534)
  AUTHORS   Allen BS, Stein JL, Stein GS and Ostrer H.
  TITLE     Single-copy flanking sequences in human histone gene clusters map to
            chromosomes 1 and 6
  JOURNAL   Genomics 10 (2), 486-488 (1991)
   PUBMED   2071153
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BQ959893.1, CR998733.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000607355.3/ ENSP00000475814.1
            RefSeq Select criteria :: based on single protein-coding transcript
            replication-dependent histone :: PMID: 15527963
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC239868.2.
            Summary: Histones are basic nuclear proteins that are responsible
            for the nucleosome structure of the chromosomal fiber in
            eukaryotes. Two molecules of each of the four core histones (H2A,
            H2B, H3, and H4) form an octamer, around which approximately 146 bp
            of DNA is wrapped in repeating units, called nucleosomes. The
            linker histone, H1, interacts with linker DNA between nucleosomes
            and functions in the compaction of chromatin into higher order
            structures. This gene is intronless and encodes a
            replication-dependent histone that is a member of the histone H2A
            family. Transcripts from this gene lack polyA tails but instead
            contain a palindromic termination element. This gene is found in a
            histone cluster on chromosome 1. This gene is one of four histone
            genes in the cluster that are duplicated; this record represents
            the telomeric copy. [provided by RefSeq, Aug 2015].
            Sequence Note: The RefSeq transcript was derived from the reference
            genome assembly.  The genomic coordinates used for the transcript
            record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..534
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     gene            1..534
                     /gene="H2AC19"
                     /gene_synonym="H2A/R; H2AC18; HIST2H2AA4"
                     /note="H2A clustered histone 19"
                     /db_xref="GeneID:723790"
                     /db_xref="HGNC:HGNC:29668"
     CDS             54..446
                     /gene="H2AC19"
                     /gene_synonym="H2A/R; H2AC18; HIST2H2AA4"
                     /note="histone 2, H2aa4; histone H2A/r; histone cluster 2,
                     H2aa4; histone cluster 2 H2A family member a4;
                     H2A-clustered histone 18"
                     /codon_start=1
                     /product="histone H2A type 2-A"
                     /protein_id="NP_001035807.1"
                     /db_xref="CCDS:CCDS30849.1"
                     /db_xref="GeneID:723790"
                     /db_xref="HGNC:HGNC:29668"
                     /translation="MSGRGKQGGKARAKAKSRSSRAGLQFPVGRVHRLLRKGNYAERVG
                     AGAPVYMAAVLEYLTAEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGKVTIA
                     QGGVLPNIQAVLLPKKTESHHKAKGK"
     misc_feature    54..119
                     /gene="H2AC19"
                     /gene_synonym="H2A/R; H2AC18; HIST2H2AA4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6FI13.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    57..59
                     /gene="H2AC19"
                     /gene_synonym="H2A/R; H2AC18; HIST2H2AA4"
                     /note="N-acetylserine.
                     /evidence=ECO:0000269|PubMed:15823041,
                     ECO:0000269|PubMed:16457589; propagated from
                     UniProtKB/Swiss-Prot (Q6FI13.3); acetylation site"
     misc_feature    57..59
                     /gene="H2AC19"
                     /gene_synonym="H2A/R; H2AC18; HIST2H2AA4"
                     /note="Phosphoserine, by RPS6KA5.
                     /evidence=ECO:0000269|PubMed:15010469; propagated from
                     UniProtKB/Swiss-Prot (Q6FI13.3); phosphorylation site"
     misc_feature    63..65
                     /gene="H2AC19"
                     /gene_synonym="H2A/R; H2AC18; HIST2H2AA4"
                     /note="Symmetric dimethylarginine, by PRMT5, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q6GSS7; propagated from
                     UniProtKB/Swiss-Prot (Q6FI13.3); methylation site"
     misc_feature    69..71
                     /gene="H2AC19"
                     /gene_synonym="H2A/R; H2AC18; HIST2H2AA4"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000269|PubMed:16457589; propagated from
                     UniProtKB/Swiss-Prot (Q6FI13.3); acetylation site"
     misc_feature    366..368
                     /gene="H2AC19"
                     /gene_synonym="H2A/R; H2AC18; HIST2H2AA4"
                     /note="N5-methylglutamine.
                     /evidence=ECO:0000269|PubMed:24352239; propagated from
                     UniProtKB/Swiss-Prot (Q6FI13.3); methylation site"
     misc_feature    414..416
                     /gene="H2AC19"
                     /gene_synonym="H2A/R; H2AC18; HIST2H2AA4"
                     /note="Phosphothreonine, by DCAF1.
                     /evidence=ECO:0000269|PubMed:15078818,
                     ECO:0000269|PubMed:24140421; propagated from
                     UniProtKB/Swiss-Prot (Q6FI13.3); phosphorylation site"
     stem_loop       514..529
                     /gene="H2AC19"
                     /gene_synonym="H2A/R; H2AC18; HIST2H2AA4"
                     /note="palindromic termination element"
                     /function="transcription termination"
ORIGIN
        1 cgactttccc gatcgccagg caggagtttc tctcggtgac tactatcgct gtcatgtctg
       61 gtcgtggcaa gcaaggaggc aaggcccgcg ccaaggccaa gtcgcgctcg tcccgcgctg
      121 gccttcagtt cccggtaggg cgagtgcatc gcttgctgcg caaaggcaac tacgcggagc
      181 gagtgggggc cggcgcgccc gtctacatgg ctgcggtcct cgagtatctg accgccgaga
      241 tcctggagct ggcgggcaac gcggctcggg acaacaagaa gacgcgcatc atccctcgtc
      301 acctccagct ggccatccgc aacgacgagg aactgaacaa gctgctgggc aaagtcacca
      361 tcgcccaggg cggcgtcttg cctaacatcc aggccgtact gctccctaag aagacggaga
      421 gtcaccacaa ggcaaagggc aagtgaggct gacgtccggc ccaagtgggc ccagcccggc
      481 ccgcgtctcg aaggggcacc tgtgaactca aaaggctctt ttcagagcca ccca
//
LOCUS       NM_001041               6012 bp    mRNA    linear   PRI 05-JUL-2023
DEFINITION  Homo sapiens sucrase-isomaltase (SI), mRNA.
ACCESSION   NM_001041
VERSION     NM_001041.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6012)
  AUTHORS   Taskin DG, Civan HA, Sari EE, Altuntas C, Ersoy M, Tuncel T, Onay H
            and Selimoglu A.
  TITLE     Prevalence of congenital sucrase-isomaltase deficiency in Turkey may
            be much higher than the estimates
  JOURNAL   J Genet 102 (2023)
   PUBMED   37349966
  REMARK    GeneRIF: Prevalence of congenital sucrase-isomaltase deficiency in
            Turkey may be much higher than the estimates.
REFERENCE   2  (bases 1 to 6012)
  AUTHORS   Zheng T, Camargo-Tavares L, Bonfiglio F, Marques FZ, Naim HY and
            D'Amato M.
  TITLE     Rare Hypomorphic Sucrase Isomaltase Variants in Relation to
            Irritable Bowel Syndrome Risk in UK Biobank
  JOURNAL   Gastroenterology 161 (5), 1712-1714 (2021)
   PUBMED   34186061
  REMARK    GeneRIF: Rare Hypomorphic Sucrase Isomaltase Variants in Relation to
            Irritable Bowel Syndrome Risk in UK Biobank.
REFERENCE   3  (bases 1 to 6012)
  AUTHORS   Hoter A and Naim HY.
  TITLE     The glucose-regulated protein GRP94 interacts avidly in the
            endoplasmic reticulum with sucrase-isomaltase isoforms that are
            associated with congenital sucrase-isomaltase deficiency
  JOURNAL   Int J Biol Macromol 186, 237-243 (2021)
   PUBMED   34242650
  REMARK    GeneRIF: The glucose-regulated protein GRP94 interacts avidly in the
            endoplasmic reticulum with sucrase-isomaltase isoforms that are
            associated with congenital sucrase-isomaltase deficiency.
REFERENCE   4  (bases 1 to 6012)
  AUTHORS   Garcia-Etxebarria K, Zheng T, Bonfiglio F, Bujanda L, Dlugosz A,
            Lindberg G, Schmidt PT, Karling P, Ohlsson B, Simren M, Walter S,
            Nardone G, Cuomo R, Usai-Satta P, Galeazzi F, Neri M, Portincasa P,
            Bellini M, Barbara G, Jonkers D, Eswaran S, Chey WD, Kashyap P,
            Chang L, Mayer EA, Wouters MM, Boeckxstaens G, Camilleri M, Franke A
            and D'Amato M.
  TITLE     Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants
            in Irritable Bowel Syndrome Patients
  JOURNAL   Clin Gastroenterol Hepatol 16 (10), 1673-1676 (2018)
   PUBMED   29408290
  REMARK    GeneRIF: Through a 2-step computational and experimental strategy,
            the present study found increased prevalence new dysfunctional SI
            variants associated with irritable bowel syndrome.
REFERENCE   5  (bases 1 to 6012)
  AUTHORS   Gericke B, Amiri M, Scott CR and Naim HY.
  TITLE     Molecular pathogenicity of novel sucrase-isomaltase mutations found
            in congenital sucrase-isomaltase deficiency patients
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1863 (3), 817-826 (2017)
   PUBMED   28062276
  REMARK    GeneRIF: Three biosynthetic phenotypes for the novel SI mutations
            were identified. The first biosynthetic phenotype was defined by
            mutants that are intracellularly transported in a fashion similar to
            wild type SI and with normal, but varying, levels of enzymatic
            activity. The second biosynthetic phenotype was defined by mutants
            with delayed maturation and trafficking kinetics and reduced
            activity. The third is inactive.
REFERENCE   6  (bases 1 to 6012)
  AUTHORS   Chantret I, Lacasa M, Chevalier G, Ruf J, Islam I, Mantei N, Edwards
            Y, Swallow D and Rousset M.
  TITLE     Sequence of the complete cDNA and the 5' structure of the human
            sucrase-isomaltase gene. Possible homology with a yeast glucoamylase
  JOURNAL   Biochem J 285 (Pt 3) (Pt 3), 915-923 (1992)
   PUBMED   1353958
REFERENCE   7  (bases 1 to 6012)
  AUTHORS   Wu GD, Wang W and Traber PG.
  TITLE     Isolation and characterization of the human sucrase-isomaltase gene
            and demonstration of intestine-specific transcriptional elements
  JOURNAL   J Biol Chem 267 (11), 7863-7870 (1992)
   PUBMED   1560017
REFERENCE   8  (bases 1 to 6012)
  AUTHORS   Fransen JA, Hauri HP, Ginsel LA and Naim HY.
  TITLE     Naturally occurring mutations in intestinal sucrase-isomaltase
            provide evidence for the existence of an intracellular sorting
            signal in the isomaltase subunit
  JOURNAL   J Cell Biol 115 (1), 45-57 (1991)
   PUBMED   1717481
  REMARK    Erratum:[J Cell Biol 1991 Dec;115(5):following 1473]
REFERENCE   9  (bases 1 to 6012)
  AUTHORS   Gorvel JP, Ferrero A, Chambraud L, Rigal A, Bonicel J and Maroux S.
  TITLE     Expression of sucrase-isomaltase and dipeptidylpeptidase IV in human
            small intestine and colon
  JOURNAL   Gastroenterology 101 (3), 618-625 (1991)
   PUBMED   1677636
REFERENCE   10  (bases 1 to 6012)
  AUTHORS   Green F, Edwards Y, Hauri HP, Povey S, Ho MW, Pinto M and Swallow D.
  TITLE     Isolation of a cDNA probe for a human jejunal brush-border
            hydrolase, sucrase-isomaltase, and assignment of the gene locus to
            chromosome 3
  JOURNAL   Gene 57 (1), 101-110 (1987)
   PUBMED   2962903
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: X63597.1, BC132834.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1966682, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000264382.8/ ENSP00000264382.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC140119.3, DA919374.1,
            BC132860.1, AC092695.8 and BG187733.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001041.3.
            Summary: This gene encodes a sucrase-isomaltase enzyme that is
            expressed in the intestinal brush border. The encoded protein is
            synthesized as a precursor protein that is cleaved by pancreatic
            proteases into two enzymatic subunits sucrase and isomaltase. These
            two subunits heterodimerize to form the sucrose-isomaltase complex.
            This complex is essential for the digestion of dietary
            carbohydrates including starch, sucrose and isomaltose. Mutations
            in this gene are the cause of congenital sucrase-isomaltase
            deficiency.[provided by RefSeq, Apr 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6012
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.1"
     gene            1..6012
                     /gene="SI"
                     /note="sucrase-isomaltase"
                     /db_xref="GeneID:6476"
                     /db_xref="HGNC:HGNC:10856"
                     /db_xref="MIM:609845"
     misc_feature    56..58
                     /gene="SI"
                     /note="upstream in-frame stop codon"
     CDS             65..5548
                     /gene="SI"
                     /EC_number="3.2.1.10"
                     /EC_number="3.2.1.48"
                     /note="oligosaccharide alpha-1,6-glucosidase;
                     alpha-glucosidase; Oligo-1,6-glucosidase;
                     Alpha-methylglucosidase"
                     /codon_start=1
                     /product="sucrase-isomaltase, intestinal"
                     /protein_id="NP_001032.2"
                     /db_xref="CCDS:CCDS3196.1"
                     /db_xref="GeneID:6476"
                     /db_xref="HGNC:HGNC:10856"
                     /db_xref="MIM:609845"
                     /translation="MARKKFSGLEISLIVLFVIVTIIAIALIVVLATKTPAVDEISDST
                     STPATTRVTTNPSDSGKCPNVLNDPVNVRINCIPEQFPTEGICAQRGCCWRPWNDSLIP
                     WCFFVDNHGYNVQDMTTTSIGVEAKLNRIPSPTLFGNDINSVLFTTQNQTPNRFRFKIT
                     DPNNRRYEVPHQYVKEFTGPTVSDTLYDVKVAQNPFSIQVIRKSNGKTLFDTSIGPLVY
                     SDQYLQISTRLPSDYIYGIGEQVHKRFRHDLSWKTWPIFTRDQLPGDNNNNLYGHQTFF
                     MCIEDTSGKSFGVFLMNSNAMEIFIQPTPIVTYRVTGGILDFYILLGDTPEQVVQQYQQ
                     LVGLPAMPAYWNLGFQLSRWNYKSLDVVKEVVRRNREAGIPFDTQVTDIDYMEDKKDFT
                     YDQVAFNGLPQFVQDLHDHGQKYVIILDPAISIGRRANGTTYATYERGNTQHVWINESD
                     GSTPIIGEVWPGLTVYPDFTNPNCIDWWANECSIFHQEVQYDGLWIDMNEVSSFIQGST
                     KGCNVNKLNYPPFTPDILDKLMYSKTICMDAVQNWGKQYDVHSLYGYSMAIATEQAVQK
                     VFPNKRSFILTRSTFAGSGRHAAHWLGDNTASWEQMEWSITGMLEFSLFGIPLVGADIC
                     GFVAETTEELCRRWMQLGAFYPFSRNHNSDGYEHQDPAFFGQNSLLVKSSRQYLTIRYT
                     LLPFLYTLFYKAHVFGETVARPVLHEFYEDTNSWIEDTEFLWGPALLITPVLKQGADTV
                     SAYIPDAIWYDYESGAKRPWRKQRVDMYLPADKIGLHLRGGYIIPIQEPDVTTTASRKN
                     PLGLIVALGENNTAKGDFFWDDGETKDTIQNGNYILYTFSVSNNTLDIVCTHSSYQEGT
                     TLAFQTVKILGLTDSVTEVRVAENNQPMNAHSNFTYDASNQVLLIADLKLNLGRNFSVQ
                     WNQIFSENERFNCYPDADLATEQKCTQRGCVWRTGSSLSKAPECYFPRQDNSYSVNSAR
                     YSSMGITADLQLNTANARIKLPSDPISTLRVEVKYHKNDMLQFKIYDPQKKRYEVPVPL
                     NIPTTPISTYEDRLYDVEIKENPFGIQIRRRSSGRVIWDSWLPGFAFNDQFIQISTRLP
                     SEYIYGFGEVEHTAFKRDLNWNTWGMFTRDQPPGYKLNSYGFHPYYMALEEEGNAHGVF
                     LLNSNAMDVTFQPTPALTYRTVGGILDFYMFLGPTPEVATKQYHEVIGHPVMPAYWALG
                     FQLCRYGYANTSEVRELYDAMVAANIPYDVQYTDIDYMERQLDFTIGEAFQDLPQFVDK
                     IRGEGMRYIIILDPAISGNETKTYPAFERGQQNDVFVKWPNTNDICWAKVWPDLPNITI
                     DKTLTEDEAVNASRAHVAFPDFFRTSTAEWWAREIVDFYNEKMKFDGLWIDMNEPSSFV
                     NGTTTNQCRNDELNYPPYFPELTKRTDGLHFRTICMEAEQILSDGTSVLHYDVHNLYGW
                     SQMKPTHDALQKTTGKRGIVISRSTYPTSGRWGGHWLGDNYARWDNMDKSIIGMMEFSL
                     FGMSYTGADICGFFNNSEYHLCTRWMQLGAFYPYSRNHNIANTRRQDPASWNETFAEMS
                     RNILNIRYTLLPYFYTQMHEIHANGGTVIRPLLHEFFDEKPTWDIFKQFLWGPAFMVTP
                     VLEPYVQTVNAYVPNARWFDYHTGKDIGVRGQFQTFNASYDTINLHVRGGHILPCQEPA
                     QNTFYSRQKHMKLIVAADDNQMAQGSLFWDDGESIDTYERDLYLSVQFNLNQTTLTSTI
                     LKRGYINKSETRLGSLHVWGKGTTPVNAVTLTYNGNKNSLPFNEDTTNMILRIDLTTHN
                     VTLEEPIEINWS"
     mat_peptide     68..3085
                     /gene="SI"
                     /product="isomaltase"
     misc_feature    83..85
                     /gene="SI"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:8521865; propagated from
                     UniProtKB/Swiss-Prot (P14410.6); phosphorylation site"
     misc_feature    101..160
                     /gene="SI"
                     /note="propagated from UniProtKB/Swiss-Prot (P14410.6);
                     transmembrane region"
     misc_feature    182..247
                     /gene="SI"
                     /note="propagated from UniProtKB/Swiss-Prot (P14410.6);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    359..361
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20356844; propagated from
                     UniProtKB/Swiss-Prot (P14410.6); glycosylation site"
     misc_feature    392..3085
                     /gene="SI"
                     /note="propagated from UniProtKB/Swiss-Prot (P14410.6);
                     Region: Isomaltase"
     misc_feature    773..775
                     /gene="SI"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P14410.6); sulfatation site"
     misc_feature    779..781
                     /gene="SI"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P14410.6); sulfatation site"
     misc_feature    1235..1237
                     /gene="SI"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P14410.6); sulfatation site"
     misc_feature    1262..1264
                     /gene="SI"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P14410.6); sulfatation site"
     misc_feature    1373..1375
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14410.6); glycosylation site"
     misc_feature    1427..1429
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20356844; propagated from
                     UniProtKB/Swiss-Prot (P14410.6); glycosylation site"
     misc_feature    2063..2065
                     /gene="SI"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P14410.6); sulfatation site"
     misc_feature    2351..2353
                     /gene="SI"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P14410.6); sulfatation site"
     misc_feature    2357..2359
                     /gene="SI"
                     /note="Sulfotyrosine. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (P14410.6); sulfatation site"
     misc_feature    2531..2533
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14410.6); glycosylation site"
     misc_feature    2627..2629
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20356844; propagated from
                     UniProtKB/Swiss-Prot (P14410.6); glycosylation site"
     misc_feature    2774..2776
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:20356844; propagated from
                     UniProtKB/Swiss-Prot (P14410.6); glycosylation site"
     misc_feature    2840..2842
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14410.6); glycosylation site"
     mat_peptide     3086..5545
                     /gene="SI"
                     /product="sucrase"
     misc_feature    3086..5545
                     /gene="SI"
                     /note="propagated from UniProtKB/Swiss-Prot (P14410.6);
                     Region: Sucrase"
     misc_feature    3767..3769
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14410.6); glycosylation site"
     misc_feature    3971..3973
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14410.6); glycosylation site"
     misc_feature    4082..4084
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14410.6); glycosylation site"
     misc_feature    4124..4126
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14410.6); glycosylation site"
     misc_feature    4271..4273
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14410.6); glycosylation site"
     misc_feature    4667..4669
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14410.6); glycosylation site"
     misc_feature    4778..4780
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14410.6); glycosylation site"
     misc_feature    5087..5089
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14410.6); glycosylation site"
     misc_feature    5306..5308
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14410.6); glycosylation site"
     misc_feature    5351..5353
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14410.6); glycosylation site"
     misc_feature    5507..5509
                     /gene="SI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P14410.6); glycosylation site"
     regulatory      5994..5999
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SI"
                     /note="hexamer: AATAAA"
     polyA_site      6012
                     /gene="SI"
                     /note="major polyA site"
ORIGIN
        1 attattttgg cagccttatc caagtctggt acaacatagc aaagagaaca ggctatgaaa
       61 taagatggca agaaagaaat ttagtggatt ggaaatctct ctgattgtcc tttttgtcat
      121 agttactata atagctattg ccttaattgt tgttttagca actaagacac ctgctgttga
      181 tgaaattagt gattctactt caactccagc tactactcgt gtgactacaa atccttctga
      241 ttcaggaaaa tgtccaaatg tgttaaatga tcctgtcaat gtgagaataa actgcattcc
      301 agaacaattc ccaacagagg gaatttgtgc acagagaggc tgctgctgga ggccgtggaa
      361 tgactctctt attccttggt gcttcttcgt tgataatcat ggttataacg ttcaagacat
      421 gacaacaaca agtattggag ttgaagccaa attaaacagg ataccttcac ctacactatt
      481 tggaaatgac atcaacagtg ttctcttcac aactcaaaat cagacaccca atcgtttccg
      541 gttcaagatt actgatccaa ataatagaag atatgaagtt cctcatcagt atgtaaaaga
      601 gtttactgga cccacagttt ctgatacgtt gtatgatgtg aaggttgccc aaaacccatt
      661 tagcatccaa gttattagga aaagcaacgg taaaactttg tttgacacca gcattggtcc
      721 cttagtgtac tctgaccagt acttacagat ctcaacccgt cttccaagtg attatattta
      781 tggtattgga gaacaagttc ataagagatt tcgtcatgat ttatcctgga aaacatggcc
      841 aatttttact cgagaccaac ttcctggtga taataataat aatttatacg gccatcaaac
      901 attctttatg tgtattgaag atacatctgg aaagtcattc ggtgtttttt taatgaatag
      961 caatgcaatg gagattttta tccagcctac tccaatagta acatatagag ttaccggtgg
     1021 cattctggat ttttacatcc ttctaggaga tacaccagaa caagtagttc aacagtatca
     1081 acagcttgtt ggactaccag caatgccagc atattggaat cttggattcc aactaagtcg
     1141 ctggaattat aagtcactag atgtagtgaa agaagtggta aggagaaacc gggaagctgg
     1201 cataccattt gatacacagg tcactgatat tgactacatg gaagacaaga aagactttac
     1261 ttatgatcaa gttgcgttta acggactccc tcaatttgtg caagatttgc atgaccatgg
     1321 acagaaatat gtcatcatct tggaccctgc aatttccata ggtcgacgtg ccaatggaac
     1381 aacatatgca acctatgaga ggggaaacac acaacatgtg tggataaatg agtcagatgg
     1441 aagtacacca attattggag aggtatggcc aggattaaca gtataccctg atttcactaa
     1501 cccaaactgc attgattggt gggcaaatga atgcagtatt ttccatcaag aagtgcaata
     1561 tgatggactt tggattgaca tgaatgaagt ttccagcttt attcaaggtt caacaaaagg
     1621 atgtaatgta aacaaattga attatccacc gtttactcct gatattcttg acaaactcat
     1681 gtattccaaa acaatttgca tggatgctgt gcagaactgg ggtaaacagt atgatgttca
     1741 tagcctctat ggatacagca tggctatagc cacagagcaa gctgtacaaa aagtttttcc
     1801 taataagaga agcttcattc ttacccgctc aacatttgct ggatctggaa gacatgctgc
     1861 gcattggtta ggagacaata ctgcttcatg ggaacaaatg gaatggtcta taactggaat
     1921 gctggagttc agtttgtttg gaataccttt ggttggagca gacatctgtg gatttgtggc
     1981 tgaaaccaca gaagaacttt gcagaagatg gatgcaactt ggggcatttt atccattttc
     2041 cagaaaccat aattctgacg gatatgaaca tcaggatcct gcattttttg ggcagaattc
     2101 acttttggtt aaatcatcaa ggcagtattt aactattcgc tacaccttat tacccttcct
     2161 ctacactctg ttttataaag cccatgtgtt tggagaaaca gtagcaagac cagttcttca
     2221 tgagttttat gaggatacga acagctggat tgaggacact gagtttttgt ggggccctgc
     2281 attacttatt actcctgttc taaaacaggg agcagatact gtgagtgcct acatccctga
     2341 tgctatttgg tatgattatg aatctggtgc aaaaaggcca tggaggaaac aacgggttga
     2401 tatgtatctt ccagcagaca aaataggatt acatcttaga ggaggttata tcatccccat
     2461 tcaagaacca gatgtaacaa caacagcaag ccgtaagaat cctctaggac ttatagtcgc
     2521 attaggtgaa aacaacacag ccaaaggaga ctttttctgg gatgatggag aaactaaaga
     2581 tacaatacaa aatggcaact acatattata tacattttca gtttctaata acacattaga
     2641 tattgtgtgc acacattcat catatcagga aggaactacc ttagcatttc agactgtaaa
     2701 aatccttggg ttgacagaca gtgttacaga agttagagtg gcggaaaata atcaaccaat
     2761 gaacgctcat tccaatttca cttatgatgc ttctaaccag gttctcctaa ttgcagatct
     2821 caaacttaat cttggaagaa actttagtgt tcaatggaat caaattttct cagaaaatga
     2881 aagatttaat tgttatccag atgcagattt ggcaactgaa caaaagtgca cacaacgtgg
     2941 ctgtgtatgg agaacgggtt cttctctatc caaagcacct gagtgttact ttcccagaca
     3001 agataactct tattcagtca actcagctcg ctattcatcc atgggtataa cagctgacct
     3061 ccaactaaat actgcaaatg ccagaataaa gttaccttct gaccccatct caactcttcg
     3121 tgtggaggtg aaatatcaca aaaatgatat gttgcagttt aagatttatg atccccaaaa
     3181 gaagagatat gaagtaccag taccgttaaa cattccaacc accccaataa gtacttatga
     3241 agacagactt tatgatgtgg aaatcaagga aaatcctttt ggcatccaga ttcgacggag
     3301 aagcagtgga agagtcattt gggattcttg gctgcctgga tttgctttta atgaccagtt
     3361 cattcaaata tcgactcgcc tgccatcaga atatatatat ggttttgggg aagtggaaca
     3421 tacagcattt aagcgagatc tgaactggaa tacttgggga atgttcacaa gagaccaacc
     3481 ccctggttac aaacttaatt cctatggatt tcatccctat tacatggctc tggaagagga
     3541 gggcaatgct catggtgttt tcttactcaa cagcaatgca atggatgtta cattccagcc
     3601 aactcctgct ctaacttacc gtacagttgg agggatcttg gatttttata tgtttttggg
     3661 cccaactcca gaagttgcaa caaagcaata ccatgaagta attggccatc cagtcatgcc
     3721 agcttattgg gctttgggat tccaattatg tcgttatgga tatgcaaata cttcagaggt
     3781 tcgggaatta tatgacgcta tggtggctgc taacatcccc tatgatgttc agtacacaga
     3841 cattgactac atggaaaggc agctagactt tacaattggt gaagcattcc aggaccttcc
     3901 tcagtttgtt gacaaaataa gaggagaagg aatgagatac attattatcc tggatccagc
     3961 aatttcagga aatgaaacaa agacttaccc tgcatttgaa agaggacagc agaatgatgt
     4021 ctttgtcaaa tggccaaaca ccaatgacat ttgttgggca aaggtttggc cagatttgcc
     4081 caacataaca atagataaaa ctctaacgga agatgaagct gttaatgctt ccagagctca
     4141 tgtagctttc ccagatttct tcaggacttc cacagcagag tggtgggcca gagaaattgt
     4201 ggacttttac aatgaaaaga tgaagtttga tggtttgtgg attgatatga atgagccatc
     4261 aagttttgta aatggaacaa ctactaatca atgcagaaat gacgaactaa attatccacc
     4321 ttatttccca gaactcacaa aaagaactga tggattacat ttcagaacaa tttgcatgga
     4381 agctgagcag attcttagtg atggaacatc agttttgcat tacgatgttc acaatctcta
     4441 tggatggtca cagatgaaac ctactcatga tgcattgcag aagacaactg gaaaaagagg
     4501 gattgtaatt tctcgttcca cgtatcctac tagtggacga tggggaggac actggcttgg
     4561 agacaactat gcacgatggg acaacatgga caaatcaatc attggtatga tggaatttag
     4621 tctgtttgga atgtcatata ctggagcaga catctgtggt tttttcaaca actcagaata
     4681 tcatctctgt acccgctgga tgcaacttgg agcattttat ccatactcaa ggaatcacaa
     4741 cattgcaaat actagaagac aagatcccgc ttcctggaat gaaacttttg ctgaaatgtc
     4801 aaggaatatt ctaaatatta gatacacctt attgccctat ttttacacac aaatgcatga
     4861 aattcatgct aatggtggca ctgttatccg accccttttg catgagttct ttgatgaaaa
     4921 accaacctgg gatatattca agcagttctt atggggtcca gcatttatgg ttaccccagt
     4981 actggaacct tatgttcaaa ctgtaaatgc ctacgtcccc aatgctcggt ggtttgacta
     5041 ccatacaggc aaagatattg gcgtcagagg acaatttcaa acatttaatg cttcttatga
     5101 cacaataaac ctacatgtcc gtggtggtca catcctacca tgtcaagagc cagctcaaaa
     5161 cacattttac agtcgacaaa aacacatgaa gctcattgtt gctgcagatg ataatcagat
     5221 ggcacagggt tctctgtttt gggatgatgg agagagtata gacacctatg aaagagacct
     5281 atatttatct gtacaattta atttaaacca gaccacctta acaagcacta tattgaagag
     5341 aggttacata aataaaagtg aaacgaggct tggatccctt catgtatggg ggaaaggaac
     5401 tactcctgtc aatgcagtta ctctaacgta taacggaaat aaaaattcgc ttccttttaa
     5461 tgaagacact accaacatga tattacgtat tgatctgacc acacacaatg ttactctaga
     5521 agaaccaata gaaatcaact ggtcatgaag atcaccatca attttagttg tcaatgggaa
     5581 aaaacaccag gatttaagtt tcacagcact tacaattttc cctcttcact tggttcttgt
     5641 actctacaaa atatagcttt cataacatcg aaaagttatt ttgtagcgta catcaatgat
     5701 aatgctaatt ttattatagt aatgtgactt ggattcaatt ttaaggcata tttaacaaaa
     5761 tttgaatagc cctatttatc cttgttaagt atcagctaca attgtaaact agttactaaa
     5821 catgtatgta aatagctaag atataattta aacgtgattt ttaaattaaa taaaattttt
     5881 atgtaattat atatactata tttttctcaa tgtttagcag atttaagata tgtaacaaca
     5941 attatttgaa gatttaatta cttcttagta tgtgcattta attagaaaaa gagaataaaa
     6001 aatgtaagtg ta
//
LOCUS       NM_001042               3375 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens solute carrier family 2 member 4 (SLC2A4), mRNA.
ACCESSION   NM_001042
VERSION     NM_001042.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3375)
  AUTHORS   Li J, Chen S, Qin R, Liu X, Fan L, Wei M, Wei J, Lin J and Zheng F.
  TITLE     Talin1 regulates glucose metabolism and endometrial receptivity via
            GLUT-4 in patients with polycystic ovary syndrome and insulin
            resistance
  JOURNAL   Gynecol Endocrinol 39 (1), 2231085 (2023)
   PUBMED   37395213
  REMARK    GeneRIF: Talin1 regulates glucose metabolism and endometrial
            receptivity via GLUT-4 in patients with polycystic ovary syndrome
            and insulin resistance.
REFERENCE   2  (bases 1 to 3375)
  AUTHORS   Chang YC, Chan MH, Yang YF, Li CH and Hsiao M.
  TITLE     Glucose transporter 4: Insulin response mastermind, glycolysis
            catalyst and treatment direction for cancer progression
  JOURNAL   Cancer Lett 563, 216179 (2023)
   PUBMED   37061122
  REMARK    GeneRIF: Glucose transporter 4: Insulin response mastermind,
            glycolysis catalyst and treatment direction for cancer progression.
            Review article
REFERENCE   3  (bases 1 to 3375)
  AUTHORS   Knudsen JR, Persson KW, Henriquez-Olguin C, Li Z, Di Leo N,
            Hesselager SA, Raun SH, Hingst JR, Trouillon R, Wohlwend M,
            Wojtaszewski JFP, Gijs MAM and Jensen TE.
  TITLE     Microtubule-mediated GLUT4 trafficking is disrupted in
            insulin-resistant skeletal muscle
  JOURNAL   Elife 12, e83338 (2023)
   PUBMED   37073948
  REMARK    GeneRIF: Microtubule-mediated GLUT4 trafficking is disrupted in
            insulin-resistant skeletal muscle. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3375)
  AUTHORS   Zhang Z, Jiang Y, Su L, Ludwig S, Zhang X, Tang M, Li X, Anderton P,
            Zhan X, Choi M, Russell J, Bu CH, Lyon S, Xu D, Hildebrand S, Scott
            L, Quan J, Simpson R, Sun Q, Qin B, Collie T, Tadesse M, Moresco EMY
            and Beutler B.
  TITLE     Obesity caused by an OVOL2 mutation reveals dual roles of OVOL2 in
            promoting thermogenesis and limiting white adipogenesis
  JOURNAL   Cell Metab 34 (11), 1860-1874 (2022)
   PUBMED   36228616
REFERENCE   5  (bases 1 to 3375)
  AUTHORS   Abd El-Azeem MA, Ali MA and El-Shorbagy SH.
  TITLE     Expression of GLUT4 and FAP in urothelial bladder carcinoma:
            correlation with angiogenesis and clinicopathological
            characteristics
  JOURNAL   J Egypt Natl Canc Inst 34 (1), 40 (2022)
   PUBMED   36155866
  REMARK    GeneRIF: Expression of GLUT4 and FAP in urothelial bladder
            carcinoma: correlation with angiogenesis and clinicopathological
            characteristics. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3375)
  AUTHORS   Buse JB, Yasuda K, Lay TP, Seo TS, Olson AL, Pessin JE, Karam JH,
            Seino S and Bell GI.
  TITLE     Human GLUT4/muscle-fat glucose-transporter gene. Characterization
            and genetic variation
  JOURNAL   Diabetes 41 (11), 1436-1445 (1992)
   PUBMED   1397719
REFERENCE   7  (bases 1 to 3375)
  AUTHORS   Liu ML, Olson AL, Moye-Rowley WS, Buse JB, Bell GI and Pessin JE.
  TITLE     Expression and regulation of the human GLUT4/muscle-fat facilitative
            glucose transporter gene in transgenic mice
  JOURNAL   J Biol Chem 267 (17), 11673-11676 (1992)
   PUBMED   1601840
REFERENCE   8  (bases 1 to 3375)
  AUTHORS   O'Rahilly S, Krook A, Morgan R, Rees A, Flier JS and Moller DE.
  TITLE     Insulin receptor and insulin-responsive glucose transporter (GLUT 4)
            mutations and polymorphisms in a Welsh type 2
            (non-insulin-dependent) diabetic population
  JOURNAL   Diabetologia 35 (5), 486-489 (1992)
   PUBMED   1521731
REFERENCE   9  (bases 1 to 3375)
  AUTHORS   Choi WH, O'Rahilly S, Buse JB, Rees A, Morgan R, Flier JS and Moller
            DE.
  TITLE     Molecular scanning of insulin-responsive glucose transporter (GLUT4)
            gene in NIDDM subjects
  JOURNAL   Diabetes 40 (12), 1712-1718 (1991)
   PUBMED   1756912
REFERENCE   10  (bases 1 to 3375)
  AUTHORS   Kusari J, Verma US, Buse JB, Henry RR and Olefsky JM.
  TITLE     Analysis of the gene sequences of the insulin receptor and the
            insulin-sensitive glucose transporter (GLUT-4) in patients with
            common-type non-insulin-dependent diabetes mellitus
  JOURNAL   J Clin Invest 88 (4), 1323-1330 (1991)
   PUBMED   1918382
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DRR138518.432463.1,
            DRR138518.403498.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000317370.13/ ENSP00000320935.8
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC003688.1, CF594356.1,
            M20747.1, BC034387.1, AL521328.3 and BQ775137.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001042.2.
            Summary: This gene is a member of the solute carrier family 2
            (facilitated glucose transporter) family and encodes a protein that
            functions as an insulin-regulated facilitative glucose transporter.
            In the absence of insulin, this integral membrane protein is
            sequestered within the cells of muscle and adipose tissue. Within
            minutes of insulin stimulation, the protein moves to the cell
            surface and begins to transport glucose across the cell membrane.
            Mutations in this gene have been associated with
            noninsulin-dependent diabetes mellitus (NIDDM). [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3375
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..3375
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="solute carrier family 2 member 4"
                     /db_xref="GeneID:6517"
                     /db_xref="HGNC:HGNC:11009"
                     /db_xref="MIM:138190"
     misc_feature    209..211
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="upstream in-frame stop codon"
     CDS             218..1747
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="insulin-responsive glucose transporter type 4;
                     GLUT-4; glucose transporter type 4, insulin-responsive;
                     solute carrier family 2 (facilitated glucose transporter),
                     member 4"
                     /codon_start=1
                     /product="solute carrier family 2, facilitated glucose
                     transporter member 4"
                     /protein_id="NP_001033.1"
                     /db_xref="CCDS:CCDS11097.1"
                     /db_xref="GeneID:6517"
                     /db_xref="HGNC:HGNC:11009"
                     /db_xref="MIM:138190"
                     /translation="MPSGFQQIGSEDGEPPQQRVTGTLVLAVFSAVLGSLQFGYNIGVI
                     NAPQKVIEQSYNETWLGRQGPEGPSSIPPGTLTTLWALSVAIFSVGGMISSFLIGIISQ
                     WLGRKRAMLVNNVLAVLGGSLMGLANAAASYEMLILGRFLIGAYSGLTSGLVPMYVGEI
                     APTHLRGALGTLNQLAIVIGILIAQVLGLESLLGTASLWPLLLGLTVLPALLQLVLLPF
                     CPESPRYLYIIQNLEGPARKSLKRLTGWADVSGVLAELKDEKRKLERERPLSLLQLLGS
                     RTHRQPLIIAVVLQLSQQLSGINAVFYYSTSIFETAGVGQPAYATIGAGVVNTVFTLVS
                     VLLVERAGRRTLHLLGLAGMCGCAILMTVALLLLERVPAMSYVSIVAIFGFVAFFEIGP
                     GPIPWFIVAELFSQGPRPAAMAVAGFSNWTSNFIIGMGFQYVAEAMGPYVFLLFAVLLL
                     GFFIFTFLRVPETRGRTFDQISAAFHRTPSLLEQEVKPSTELEYLGPDEND"
     misc_feature    236..256
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="propagated from UniProtKB/Swiss-Prot (P14672.1);
                     Region: Interaction with SRFBP1.
                     /evidence=ECO:0000269|PubMed:16647043"
     misc_feature    245..247
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P19357; propagated from
                     UniProtKB/Swiss-Prot (P14672.1); phosphorylation site"
     misc_feature    290..352
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="propagated from UniProtKB/Swiss-Prot (P14672.1);
                     transmembrane region"
     misc_feature    386..388
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19349973; propagated from
                     UniProtKB/Swiss-Prot (P14672.1); glycosylation site"
     misc_feature    461..523
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="propagated from UniProtKB/Swiss-Prot (P14672.1);
                     transmembrane region"
     misc_feature    551..613
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="propagated from UniProtKB/Swiss-Prot (P14672.1);
                     transmembrane region"
     misc_feature    644..706
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="propagated from UniProtKB/Swiss-Prot (P14672.1);
                     transmembrane region"
     misc_feature    731..793
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="propagated from UniProtKB/Swiss-Prot (P14672.1);
                     transmembrane region"
     misc_feature    821..883
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="propagated from UniProtKB/Swiss-Prot (P14672.1);
                     transmembrane region"
     misc_feature    1037..1039
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="Phosphoserine, by SGK1.
                     /evidence=ECO:0000269|PubMed:17382906; propagated from
                     UniProtKB/Swiss-Prot (P14672.1); phosphorylation site"
     misc_feature    1079..1141
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="propagated from UniProtKB/Swiss-Prot (P14672.1);
                     transmembrane region"
     misc_feature    1187..1249
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="propagated from UniProtKB/Swiss-Prot (P14672.1);
                     transmembrane region"
     misc_feature    1277..1339
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="propagated from UniProtKB/Swiss-Prot (P14672.1);
                     transmembrane region"
     misc_feature    1370..1432
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="propagated from UniProtKB/Swiss-Prot (P14672.1);
                     transmembrane region"
     misc_feature    1469..1531
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="propagated from UniProtKB/Swiss-Prot (P14672.1);
                     transmembrane region"
     misc_feature    1553..1615
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="propagated from UniProtKB/Swiss-Prot (P14672.1);
                     transmembrane region"
     misc_feature    1673..1675
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P14142; propagated from
                     UniProtKB/Swiss-Prot (P14672.1); phosphorylation site"
     misc_feature    1679..1681
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P14142; propagated from
                     UniProtKB/Swiss-Prot (P14672.1); phosphorylation site"
     misc_feature    1682..1687
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="propagated from UniProtKB/Swiss-Prot (P14672.1);
                     Region: Dileucine internalization motif.
                     /evidence=ECO:0000269|PubMed:8300557"
     regulatory      2929..2934
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="hexamer: TATAAA"
     polyA_site      2954
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
     regulatory      3121..3126
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="hexamer: AATAAA"
     polyA_site      3138
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
                     /note="major polyA site"
     polyA_site      3175
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
     polyA_site      3183
                     /gene="SLC2A4"
                     /gene_synonym="GLUT4"
ORIGIN
        1 gtcttttccc ccagccccgc tccaccagat ccgcgggagc cccactgctc tccgggtcct
       61 tggcttgtgg ctgtgggtcc catcgggccc gccctcgcac gtcactccgg gacccccgcg
      121 gcctccgcag gttctgcgct ccaggccgga gtcagagact ccaggatcgg ttctttcatc
      181 ttcgccgccc ctgcgcgtcc agctcttcta agacgagatg ccgtcgggct tccaacagat
      241 aggctccgaa gatggggaac cccctcagca gcgagtgact gggaccctgg tccttgctgt
      301 gttctctgcg gtgcttggct ccctgcagtt tgggtacaac attggggtca tcaatgcccc
      361 tcagaaggtg attgaacaga gctacaatga gacgtggctg gggaggcagg ggcctgaggg
      421 acccagctcc atccctccag gcaccctcac caccctctgg gccctctccg tggccatctt
      481 ttccgtgggc ggcatgattt cctccttcct cattggtatc atctctcagt ggcttggaag
      541 gaaaagggcc atgctggtca acaatgtcct ggcggtgctg gggggcagcc tcatgggcct
      601 ggccaatgct gctgcctcct atgaaatgct catccttgga cgattcctca ttggcgccta
      661 ctcagggctg acatcagggc tggtgcccat gtacgtgggg gagattgctc ccactcacct
      721 gcggggcgcc ctggggacgc tcaaccaact ggccattgtt atcggcattc tgatcgccca
      781 ggtgctgggc ttggagtccc tcctgggcac tgccagcctg tggccactgc tcctgggcct
      841 cacagtgcta cctgccctcc tgcagctggt cctgctgccc ttctgtcccg agagcccccg
      901 ctacctctac atcatccaga atctcgaggg gcctgccaga aagagtctga agcgcctgac
      961 aggctgggcc gatgtttctg gagtgctggc tgagctgaag gatgagaagc ggaagctgga
     1021 gcgtgagcgg ccactgtccc tgctccagct cctgggcagc cgtacccacc ggcagcccct
     1081 gatcattgcg gtcgtgctgc agctgagcca gcagctctct ggcatcaatg ctgttttcta
     1141 ttattcgacc agcatcttcg agacagcagg ggtaggccag cctgcctatg ccaccatagg
     1201 agctggtgtg gtcaacacag tcttcacctt ggtctcggtg ttgttggtgg agcgggcggg
     1261 gcgccggacg ctccatctcc tgggcctggc gggcatgtgt ggctgtgcca tcctgatgac
     1321 tgtggctctg ctcctgctgg agcgagttcc agccatgagc tacgtctcca ttgtggccat
     1381 ctttggcttc gtggcatttt ttgagattgg ccctggcccc attccttggt tcatcgtggc
     1441 cgagctcttc agccagggac cccgcccggc agccatggct gtggctggtt tctccaactg
     1501 gacgagcaac ttcatcattg gcatgggttt ccagtatgtt gcggaggcta tggggcccta
     1561 cgtcttcctt ctatttgcgg tcctcctgct gggcttcttc atcttcacct tcttaagagt
     1621 acctgaaact cgaggccgga cgtttgacca gatctcagct gccttccacc ggacaccctc
     1681 tcttttagag caggaggtga aacccagcac agaacttgag tatttagggc cagatgagaa
     1741 cgactgaggg gccaggcagg ggtgggagag ccagctctct ctacccggcc cagagacccc
     1801 ttcctttcct ctgcagcact ttaaccctct cttccctatt atttccgggt ggaaaagaat
     1861 ccctgcagcc tggtagaatt gggaagctgg gggaagggtg gtctgagcac cccctcattc
     1921 ccctcgtgtg actctcttgg attatttatg tgttgtggtt tggccgtggc catcagggtg
     1981 ggccactctc ccctccctct tccttccccc atcccctttc ctccccacct tccccagact
     2041 cagctccaga ataccttctt cgctgctaga gaagggggat tggagggaag acaggtctag
     2101 actttctcag tgggacaaac cagagcagag agcaggacag gagacaagaa atccagtttc
     2161 ccaccacctt ggactcctcc cacaatctgg gactttcact gaattcttgc cacgcagact
     2221 ctgggcaaag gggttttttt tttttttttt tttttttttt ttgagacagt ctcgctctgt
     2281 cgcccaggct cgagtgcagt ggcgtgatct tgcttcactg caagctgtct cccaggttca
     2341 cgccattctc ctgcctcagc ctccggagta gctgggacta caggcgcatg ccaccacacc
     2401 tggctaattt attttgtatt tttagtatat acgcggtttc accatgttag ccagaatggt
     2461 ctcgatctcc tgacctcgtg atctgcctgc ctcagcctcc caaagtgctg ggattacagg
     2521 cgtgagccac cgcgcctggc gaagggagtt ctctcttgac ccctgcaggg aaaaggactc
     2581 acctccctca ctgcaggctc agccttccag ggcaagaggg aacaggaaag tatgtgccca
     2641 tgtgtggcaa gatggaagga cggcaggctc ccgcctctag gcttggggct ctaccccgat
     2701 ggtttcccaa ggctgccaag aaggagccct aactttcttc ctctcccttc ctggaagggt
     2761 gctgcatcca caggcttttg accaactaag gcaaagaggg gatttgaaag gctgcctgga
     2821 aacactgggc tgggaggagc ctttggatat ttttatatac gtttgaaaag gggattgaga
     2881 gaagaaacca aaggtcggtt gtactaaatg tatatatata gatacttcta taaagtcact
     2941 gctgaagaca agcatcctat tgtggaggta cttgaggatg ggctgagaca gggaccataa
     3001 ctcttcaccc ctcttcctcc ctctgtcctg cctcagctca aggcctcaga atcttctgga
     3061 tgccattgct catgccccta ctcacatttc tactcgttgc tttattaata gtaaatgctc
     3121 aataaattgt agctgccagt gccgggcatt gctcttggca tttgcagaat actcactctg
     3181 tgagggaggt gtcagcccat gtcacagatg ggcagtgaaa cccatgatag gggcactctt
     3241 caccagggac acagctggag acatggcagc aaggatgcca ggccctgccc acggccccac
     3301 atcccctcct ccccaccttc aacagtgagt tactagcgat tctccaaaac agaagagatg
     3361 gagaccaaga ccaca
//
LOCUS       NM_001042353            1807 bp    mRNA    linear   PRI 26-MAR-2023
DEFINITION  Homo sapiens family with sequence similarity 110 member A (FAM110A),
            transcript variant 3, mRNA.
ACCESSION   NM_001042353
VERSION     NM_001042353.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1807)
  AUTHORS   Zhong H, Shi Q, Wen Q, Chen J, Li X, Ruan R, Zeng S, Dai X, Xiong J,
            Li L, Lei W and Deng J.
  TITLE     Pan-cancer analysis reveals potential of FAM110A as a prognostic and
            immunological biomarker in human cancer
  JOURNAL   Front Immunol 14, 1058627 (2023)
   PUBMED   36923407
  REMARK    GeneRIF: Pan-cancer analysis reveals potential of FAM110A as a
            prognostic and immunological biomarker in human cancer. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1807)
  AUTHORS   Aquino Perez C, Burocziova M, Jenikova G and Macurek L.
  TITLE     CK1-mediated phosphorylation of FAM110A promotes its interaction
            with mitotic spindle and controls chromosomal alignment
  JOURNAL   EMBO Rep 22 (7), e51847 (2021)
   PUBMED   34080749
REFERENCE   3  (bases 1 to 1807)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   4  (bases 1 to 1807)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1807)
  AUTHORS   Kovacs IA, Luck K, Spirohn K, Wang Y, Pollis C, Schlabach S, Bian W,
            Kim DK, Kishore N, Hao T, Calderwood MA, Vidal M and Barabasi AL.
  TITLE     Network-based prediction of protein interactions
  JOURNAL   Nat Commun 10 (1), 1240 (2019)
   PUBMED   30886144
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1807)
  AUTHORS   Wang J, Huo K, Ma L, Tang L, Li D, Huang X, Yuan Y, Li C, Wang W,
            Guan W, Chen H, Jin C, Wei J, Zhang W, Yang Y, Liu Q, Zhou Y, Zhang
            C, Wu Z, Xu W, Zhang Y, Liu T, Yu D, Zhang Y, Chen L, Zhu D, Zhong
            X, Kang L, Gan X, Yu X, Ma Q, Yan J, Zhou L, Liu Z, Zhu Y, Zhou T,
            He F and Yang X.
  TITLE     Toward an understanding of the protein interaction network of the
            human liver
  JOURNAL   Mol Syst Biol 7, 536 (2011)
   PUBMED   21988832
  REMARK    Erratum:[Mol Syst Biol. 2017 Dec 18;13(12 ):965. PMID: 29254952]
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1807)
  AUTHORS   Vinayagam A, Stelzl U, Foulle R, Plassmann S, Zenkner M, Timm J,
            Assmus HE, Andrade-Navarro MA and Wanker EE.
  TITLE     A directed protein interaction network for investigating
            intracellular signal transduction
  JOURNAL   Sci Signal 4 (189), rs8 (2011)
   PUBMED   21900206
REFERENCE   8  (bases 1 to 1807)
  AUTHORS   Hauge H, Patzke S and Aasheim HC.
  TITLE     Characterization of the FAM110 gene family
  JOURNAL   Genomics 90 (1), 14-27 (2007)
   PUBMED   17499476
  REMARK    GeneRIF: Protein with cell cycle-regulated expression and distinct
            conserved motifs, which localizes to centrosomes and spindle poles.
REFERENCE   9  (bases 1 to 1807)
  AUTHORS   Wu C, Ma MH, Brown KR, Geisler M, Li L, Tzeng E, Jia CY, Jurisica I
            and Li SS.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.54092.1,
            SRR3476690.394801.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381941.8/ ENSP00000371367.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA915382.1, BI911808.1, AL118502.38 and BC004222.2.
            On Nov 22, 2018 this sequence version replaced NM_001042353.2.
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 1. Variants 1, 2, 3, 4, 5, and 6 encode the
            same protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1807
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..1807
                     /gene="FAM110A"
                     /gene_synonym="bA371L19.3; C20orf55; F10"
                     /note="family with sequence similarity 110 member A"
                     /db_xref="GeneID:83541"
                     /db_xref="HGNC:HGNC:16188"
                     /db_xref="MIM:611393"
     misc_feature    56..58
                     /gene="FAM110A"
                     /gene_synonym="bA371L19.3; C20orf55; F10"
                     /note="upstream in-frame stop codon"
     CDS             335..1222
                     /gene="FAM110A"
                     /gene_synonym="bA371L19.3; C20orf55; F10"
                     /codon_start=1
                     /product="protein FAM110A"
                     /protein_id="NP_001035812.1"
                     /db_xref="CCDS:CCDS13008.1"
                     /db_xref="GeneID:83541"
                     /db_xref="HGNC:HGNC:16188"
                     /db_xref="MIM:611393"
                     /translation="MPVHTLSPGAPSAPALPCRLRTRVPGYLLRGPADGGARKPSAVER
                     LEADKAKYVKSLHVANTRQEPVQPLLSKQPLFSPETRRTVLTPSRRALPGPCRRPQLDL
                     DILSSLIDLCDSPVSPAEASRTPGRAEGAGRPPPATPPRPPPSTSAVRRVDVRPLPASP
                     ARPCPSPGPAAASSPARPPGLQRSKSDLSERFSRAAADLERFFNFCGLDPEEARGLGVA
                     HLARASSDIVSLAGPSAGPGSSEGGCSRRSSVTVEERARERVPYGVSVVERNARVIKWL
                     YGLRQARESPAAEG"
     misc_feature    683..910
                     /gene="FAM110A"
                     /gene_synonym="bA371L19.3; C20orf55; F10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQ89.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1040..1102
                     /gene="FAM110A"
                     /gene_synonym="bA371L19.3; C20orf55; F10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQ89.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1782..1787
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM110A"
                     /gene_synonym="bA371L19.3; C20orf55; F10"
                     /note="hexamer: AATAAA"
     polyA_site      1807
                     /gene="FAM110A"
                     /gene_synonym="bA371L19.3; C20orf55; F10"
                     /note="major polyA site"
ORIGIN
        1 acttcccctt ccacggcgcc ccagggactt tccctgcggt gggggccttc gacagtgagg
       61 gccacccgct cagctcgacc gcggagggca gctccaaagg ggaccccaaa ggtgcccacg
      121 cggggctggg gcctcctggg cgtcgttggg agcggccact accggcccgg gtccgagctg
      181 tcagcctctc caaagcctgc gcgagaggag ccgggacacg cctagcgcgg gctccagcag
      241 tggccggtgt ccagctgcct actttctgcc cggatctctg gctcctcatc tctccggtct
      301 ccgcagacta aagccctcgg gatatgcagc agccatgcct gtgcacacgc tgagccccgg
      361 agccccgtcc gcccccgccc taccttgccg cctgcggacc agggtccctg gctacctgct
      421 acgggggccg gcagatggtg gagcccggaa accgagcgct gtggagcgcc tggaggccga
      481 caaggccaag tacgtcaaga gcctgcacgt ggccaacacc cgccaggagc ctgtgcagcc
      541 cctgctgtcc aaacagccgc tctttagccc tgagactcgc cgcacagtgc tcacgcccag
      601 ccgccgagcc ctgcctggcc cctgccgacg gccccagctg gacctggaca tcctcagcag
      661 cctcatcgac ttgtgtgaca gccccgtgtc ccctgccgag gccagccgca ctcctggacg
      721 ggccgaggga gccggccgtc ctcccccagc cacccctccg cgaccgccgc ccagtacctc
      781 tgcggtccgc cgggtggacg tccgccccct gcccgcctcg cctgcccggc cctgcccatc
      841 acccggccct gccgccgcct ccagcccagc ccggccgccg ggtttgcaac gctccaagtc
      901 ggacttgagc gagcgctttt ctagggcagc cgctgatctc gagcgctttt ttaacttctg
      961 cggcctggac ccggaggagg cgagagggtt gggtgtggcc cacctggcac gggccagctc
     1021 ggatatcgtg tccctggcag ggcccagtgc tgggccgggc agctctgaag ggggctgctc
     1081 ccgccgcagc tcggtgactg ttgaggagcg ggcccgggag cgcgttccct atggcgtgtc
     1141 ggtggtggag cgcaatgccc gcgtgatcaa gtggttgtat gggctaaggc aggctcggga
     1201 gagcccagca gctgaaggct aggcgccact gggcctggaa ttcgccacag gacggatctt
     1261 acagaggcaa gtggtccctg gacctctctt gcatccattc tctagacggc cgtgtcagag
     1321 gctccaccct gttgtgaact tggtatggag gcaaaggctt agaggctgga ccagcattgt
     1381 tgggcaagga ctgactctcc aagggttttg ttcttggctt tggacacctg agaaccccct
     1441 cctcccctcc cccaatacaa ggtttttgac atgagtgtac tcctgcttag ttcctcttgt
     1501 ggggctgcat ttgcggtgct ttgccctccc cactgtgagt gaggggccaa gggatctcct
     1561 caatcctgtc tccccagcgg ctctgtttcc tccttccttc cttggcctct gtcctttgct
     1621 gacttcctct tccttaccca gcagaactca ccctggggtc ggggcagtgg ggaggggcct
     1681 atccactgct cttcctagtc cttggcagct ggcctaggtg ggcagactat aggagggact
     1741 ggttaggagt ctgcattgct ttgacttccc tctccttggt taataaacac aaatgcttgt
     1801 ttctcaa
//
LOCUS       NM_001042357            3041 bp    mRNA    linear   PRI 11-JUL-2023
DEFINITION  Homo sapiens protein tyrosine phosphatase non-receptor type 20
            (PTPN20), transcript variant 1, mRNA.
ACCESSION   NM_001042357
VERSION     NM_001042357.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3041)
  AUTHORS   Ma L, Liu Y, Wang Y, Yang J, Lu J, Feng H, Ye S and Liu Y.
  TITLE     Identification of PTPN20 as an innate immunity-related gene in
            gastric cancer with Helicobacter pylori infection
  JOURNAL   Front Immunol 14, 1212692 (2023)
   PUBMED   37359510
  REMARK    GeneRIF: Identification of PTPN20 as an innate immunity-related gene
            in gastric cancer with Helicobacter pylori infection. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 3041)
  AUTHORS   van Eekelen M, Runtuwene V, Masselink W and den Hertog J.
  TITLE     Pair-wise regulation of convergence and extension cell movements by
            four phosphatases via RhoA
  JOURNAL   PLoS One 7 (4), e35913 (2012)
   PUBMED   22545146
REFERENCE   3  (bases 1 to 3041)
  AUTHORS   Fodero-Tavoletti MT, Hardy MP, Cornell B, Katsis F, Sadek CM,
            Mitchell CA, Kemp BE and Tiganis T.
  TITLE     Protein tyrosine phosphatase hPTPN20a is targeted to sites of actin
            polymerization
  JOURNAL   Biochem J 389 (Pt 2), 343-354 (2005)
   PUBMED   15790311
  REMARK    GeneRIF: identification of hPTPN20a as a novel and widely expressed
            phosphatase with a dynamic subcellular distribution that is targeted
            to sites of actin polymerization
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.459898.1,
            SRR1803614.244317.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374339.5/ ENSP00000363459.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX648913.1, AL050040.1,
            BC036539.2, AY704146.1, BC093750.1 and AL358791.24.
            On Aug 13, 2020 this sequence version replaced NM_001042357.4.
            Summary: The product of this gene belongs to the family of
            classical tyrosine-specific protein tyrosine phosphatases. Many
            protein tyrosine phosphatases have been shown to regulate
            fundamental cellular processes. The encoded protein appears to be
            targeted to sites of actin polymerization. A pseudogene of this
            gene has been defined on chromosome 10. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Apr
            2014].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3041
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     gene            1..3041
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
                     /note="protein tyrosine phosphatase non-receptor type 20"
                     /db_xref="GeneID:26095"
                     /db_xref="HGNC:HGNC:23423"
                     /db_xref="MIM:610630"
     misc_feature    141..143
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
                     /note="upstream in-frame stop codon"
     CDS             198..1460
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
                     /EC_number="3.1.3.48"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein tyrosine phosphatase, non-receptor type 20A;
                     tyrosine-protein phosphatase non-receptor type 20; protein
                     tyrosine phosphatase, non-receptor type 20B"
                     /codon_start=1
                     /product="tyrosine-protein phosphatase non-receptor type 20
                     isoform 1"
                     /protein_id="NP_001035816.1"
                     /db_xref="CCDS:CCDS73110.1"
                     /db_xref="GeneID:26095"
                     /db_xref="HGNC:HGNC:23423"
                     /db_xref="MIM:610630"
                     /translation="MSSPRDFRAEPVNDYEGNDSEAEDLNFRETLPSSSQENTPRSKVF
                     ENKVNSEKVKLSLRNFPHNDYEDVFEEPSESGSDPSMWTARGPFRRDRWSSEDEEAAGP
                     SQALSPLLSDTRKIVSEGELDQLAQIRPLIFNFHEQTAIKDCLKILEEKTAAYDIMQEF
                     MALELKNLPGEFNSGNQPSNREKNRYRDILPYDSTRVPLGKSKDYINASYIRIVNCGEE
                     YFYIATQGPLLSTIDDFWQMVLENNSNVIAMITREIEGGIIKCYHYWPISLKKPLELKH
                     FRVFLENYQILQYFIIRMFQVVEKSTGTSHSVKQLQFTKWPDHGTPASADSFIKYIRYA
                     RKSHLTGPMVVHCSAGIGRTGVFLCVDVVFCAIVKNCSFNIMDIVAQMREQRSGMVQTK
                     EQYHFCYDIVLEVLRKLLTLD"
     misc_feature    198..338
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4JDL3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    399..521
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4JDL3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    423..425
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A1L1L3; propagated from
                     UniProtKB/Swiss-Prot (Q4JDL3.1); phosphorylation site"
     misc_feature    555..557
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:A1L1L3; propagated from
                     UniProtKB/Swiss-Prot (Q4JDL3.1); phosphorylation site"
     regulatory      2285..2290
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
                     /note="hexamer: AATAAA"
     polyA_site      2315
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
                     /note="major polyA site"
     regulatory      3022..3027
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
                     /note="hexamer: AATAAA"
     polyA_site      3041
                     /gene="PTPN20"
                     /gene_synonym="bA142I17.1; bA42B19.1; CT126; PTPN20A;
                     PTPN20B"
ORIGIN
        1 aggctaggcg tggacccaac tggcgaggct gctggggttg cagcgggaca gttggggcgg
       61 ccccgcaggc ccaggtgaac aaaaattgtt tgctggcccc caggatacta actagacctt
      121 tggcctgact cacaggacac taaggctcct tttctgaaga agccttttac cagtctcatt
      181 taggggatgg gaacaacatg tcttcaccta gggactttag agcagagcct gtaaacgatt
      241 atgagggaaa tgactctgaa gcagaagact tgaatttcag ggagactttg ccttcatcaa
      301 gtcaggaaaa cacacctaga tcaaaggttt ttgaaaataa agttaattca gagaaggtaa
      361 aactttctct tcggaatttc ccacataatg attatgagga tgtttttgaa gagccttcag
      421 aaagtggcag tgatcccagc atgtggacag ccagaggccc cttcagaaga gacaggtgga
      481 gcagtgagga tgaggaggct gcagggccat cacaggctct ctcccctcta ctttctgata
      541 cgcgcaaaat tgtttctgaa ggagaactag atcagttggc tcagattcgg ccattaatat
      601 tcaattttca tgagcagaca gccatcaagg attgtttgaa aatccttgag gaaaaaacag
      661 cagcgtatga tatcatgcag gaatttatgg ctttagaact taagaatctg cctggtgagt
      721 tcaactctgg gaatcaacca agcaacagag aaaaaaatag ataccgagat attcttccat
      781 atgattcaac acgcgttcct cttggaaaaa gcaaggacta catcaatgct agttatatta
      841 gaatagtcaa ttgtggagaa gagtattttt atatcgctac tcaaggacca ctgctgagca
      901 ccatagatga cttttggcaa atggtgttgg aaaataattc aaatgttatt gccatgataa
      961 ccagagagat agaaggtgga attatcaaat gctaccatta ctggcccatt tctctgaaga
     1021 agccattgga attgaaacac ttccgtgtat tcctggagaa ctaccagata cttcaatatt
     1081 tcatcattcg aatgtttcaa gttgtggaga agtccacggg aactagtcac tctgtaaaac
     1141 agttgcagtt caccaagtgg ccagaccatg gcactcctgc ctcagcagat agcttcataa
     1201 aatatattcg ttatgcaagg aagagccacc ttacaggacc catggttgtt cactgcagtg
     1261 ccggcatagg ccggacaggg gtgttcctat gtgtggatgt cgtgttctgt gccatcgtaa
     1321 agaactgttc attcaacatc atggatatag tggcccaaat gagagaacaa cgttctggca
     1381 tggttcaaac gaaggagcag tatcactttt gttacgatat tgtgcttgaa gttcttcgga
     1441 aacttctgac tttggattaa gaaagacttc tgttgcctct cacttgaaat taccaagtgg
     1501 gtttgcacct cctcataaag aacatgtttg cactgtgctg aagggctttg ctatgcatac
     1561 aatctgcttt cttggtttat cagtttattt tctttctaaa agctccctga agggcaatat
     1621 catttggctt ggggtgatca gtgtttactt attgatcttg ctagacaata tcaaaataac
     1681 ttcccacatt ttccagtgaa acagatgtta cataaaacga ttgcagcttg gctatttggt
     1741 tgaagggatt acagagccca ataaaggatt taaaatatat tcattaagat tttatttgga
     1801 aaggtggctg gagagagctg aggatttcca ggactttgta agttcttatt ctgggagaac
     1861 ataaggccaa taatcatgac ctcttccagg catttttaag acagatgtct attcatgttc
     1921 tttagctaga gcctgtactt tttgctggca tttgaataac ccagtttaaa aagagtccag
     1981 ttagggtgga ctaactttgg acacaaattg gcttccattt cctacatttt catactgctg
     2041 ccttcctaca gctgctagac caagacctgt tggtctggga agcatttcat ggatagggag
     2101 agctcctctc ggtgaacagt ccaaaactaa aatagatgtt tatatagaaa gcccaagagg
     2161 agacttttgc catgcctgag ttctttccta tcccacccta acacttaaca tattacttag
     2221 tctgctttgt taaaagcaag tattaccttt aacttgcctc ttactctttg ccctttagct
     2281 aactaataaa gtttgatata ggcattatta tataattctg agtcattcat ggtatctctc
     2341 atgtttgatg tatttttcaa actaagatct atgatagttt tttttccaga gttccattaa
     2401 atcatttatt tcctttactt tctcacctct gttgaaacat ttagaaactg gatttgggaa
     2461 cccaattttg gaaaaccaga ttcatagtca tgaaaatgga aacttccata ttctgttttt
     2521 gaaaagatgt ggccattatt acagtaattt tattatagga ctttgcctcg tacaattaat
     2581 agtgatattt tggacaagga gttctggtga caagctatac ctaattataa gctataaaac
     2641 aatagatatg agtgtttgta cagtttaact caatggagat cagaatattc tatgtattga
     2701 gaaaatgttt aatatcaatc tataaatctt gaatttctaa gaggcttatt ttgttctttt
     2761 ggctgaatga gtatatttga attggttgaa taattaataa ttctcattgt aaaaataatt
     2821 atatgccaaa aatatatttg atgttaaatc aaatagatga ttctgtttac attgttcata
     2881 tgaataataa tctgtgttaa tttcattttg ataattggcc tttaatattt gtatctctaa
     2941 ttttattttc tctctgttac tgtaaaataa tagctataat gtataacaat tttcttcaga
     3001 agaattctat gctattatta aaataaaata tttactgtgt a
//
LOCUS       NM_001042367             920 bp    mRNA    linear   PRI 13-APR-2023
DEFINITION  Homo sapiens REC114 meiotic recombination protein (REC114),
            transcript variant 1, mRNA.
ACCESSION   NM_001042367
VERSION     NM_001042367.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 920)
  AUTHORS   Wang W, Dong J, Chen B, Du J, Kuang Y, Sun X, Fu J, Li B, Mu J,
            Zhang Z, Zhou Z, Lin Z, Wu L, Yan Z, Mao X, Li Q, He L, Wang L and
            Sang Q.
  TITLE     Homozygous mutations in REC114 cause female infertility
            characterised by multiple pronuclei formation and early embryonic
            arrest
  JOURNAL   J Med Genet 57 (3), 187-194 (2020)
   PUBMED   31704776
  REMARK    GeneRIF: Homozygous mutations in REC114 cause female infertility
            characterised by multiple pronuclei formation and early embryonic
            arrest.
REFERENCE   2  (bases 1 to 920)
  AUTHORS   Ueta M, Sawai H, Shingaki R, Kawai Y, Sotozono C, Kojima K, Yoon KC,
            Kim MK, Seo KY, Joo CK, Nagasaki M, Kinoshita S and Tokunaga K.
  TITLE     Genome-wide association study using the ethnicity-specific Japonica
            array: identification of new susceptibility loci for cold
            medicine-related Stevens-Johnson syndrome with severe ocular
            complications
  JOURNAL   J Hum Genet 62 (4), 485-489 (2017)
   PUBMED   28100913
  REMARK    GeneRIF: In Japanese individuals, combined genotyping for the
            associated variants thus far identified; that is, HLA-A*02:06, TLR3
            rs3775296 T/T and Rec114 rs16957893 CG, may help to predict the risk
            for cold medicine-related Stevens-Johnson syndrome /TEN with severe
            ocular complications
REFERENCE   3  (bases 1 to 920)
  AUTHORS   Kumar R, Bourbon HM and de Massy B.
  TITLE     Functional conservation of Mei4 for meiotic DNA double-strand break
            formation from yeasts to mice
  JOURNAL   Genes Dev 24 (12), 1266-1280 (2010)
   PUBMED   20551173
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.103808.1,
            SRR5189667.12067.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000331090.11/ ENSP00000328423.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB465854.1, BC055412.1 and
            BX113903.1.
            On Nov 22, 2018 this sequence version replaced NM_001042367.1.
            Summary: The protein encoded by this gene is orthologous to the
            mouse meiotic recombination protein REC114, which is involved in
            DNA double-strand break formation during meiosis. The encoded
            protein is conserved in most eukaryotes and was first discovered
            and characterized in yeast. [provided by RefSeq, Feb 2017].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..920
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     gene            1..920
                     /gene="REC114"
                     /gene_synonym="C15orf60; CT147; OOMD10; OZEMA10"
                     /note="REC114 meiotic recombination protein"
                     /db_xref="GeneID:283677"
                     /db_xref="HGNC:HGNC:25065"
                     /db_xref="MIM:618421"
     CDS             23..823
                     /gene="REC114"
                     /gene_synonym="C15orf60; CT147; OOMD10; OZEMA10"
                     /note="isoform 1 is encoded by transcript variant 1;
                     meiotic recombination protein REC114-like"
                     /codon_start=1
                     /product="meiotic recombination protein REC114 isoform 1"
                     /protein_id="NP_001035826.1"
                     /db_xref="CCDS:CCDS45296.1"
                     /db_xref="GeneID:283677"
                     /db_xref="HGNC:HGNC:25065"
                     /db_xref="MIM:618421"
                     /translation="MAEAGKVPLSLGLTGGEAAEWPLQRYARCIPSNTRDPPGPCLEAG
                     TAPCPTWKVFDSNEESGYLVLTIVISGHFFIFQGQTLLEGFSLIGSKDWLKIVRRVDCL
                     LFGTTIKDKSRLFRVQFSGESKEQALEHCCSCVQKLAQYITVQVPDGNIQELQLIPGPP
                     RATESQGKDSAKSVPRQPGSHQHSEQQQVCVTAGTGAPDGRTSLTQLAQTLLASEELPH
                     VYEQSAWGAEELGPFLRLCLMDQNFPAFVEEVEKELKKLAGLRN"
     misc_feature    491..592
                     /gene="REC114"
                     /gene_synonym="C15orf60; CT147; OOMD10; OZEMA10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z4M0.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      901..906
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REC114"
                     /gene_synonym="C15orf60; CT147; OOMD10; OZEMA10"
                     /note="hexamer: AATAAA"
     polyA_site      920
                     /gene="REC114"
                     /gene_synonym="C15orf60; CT147; OOMD10; OZEMA10"
                     /note="major polyA site"
ORIGIN
        1 agtgcgtgtg gtgaggcagg acatggcgga ggcaggaaaa gtgcccttga gcctcgggct
       61 taccggagga gaagcggcag agtggcctct gcagcggtac gcccgctgca taccctcaaa
      121 caccagagac ccacctgggc catgcctgga agctgggaca gccccctgcc ccacatggaa
      181 ggtttttgat tccaatgaag aatctggata tcttgttctc accatagtta tatcaggtca
      241 tttcttcatt ttccaaggac agacactact ggaagggttt tcactcattg gtagcaagga
      301 ctggttgaag attgtaagac gcgtggattg tctgttgttt ggaacaacga taaaggacaa
      361 gagtcgcctg tttcgagtac agttcagtgg agagtcaaag gagcaggcgc tggaacactg
      421 ctgcagttgt gttcagaagc tggcacaata cataaccgtg caggtgcctg atggaaacat
      481 ccaggagctt cagctgattc ctggcccacc cagggcaact gaaagtcaag ggaaggattc
      541 tgcaaagagt gtcccacggc agcctggatc ccaccagcac tcagaacaac agcaagtgtg
      601 tgtaacagcg ggcacaggcg ctccagacgg aaggacctca ctgacgcagt tagctcagac
      661 tcttctggca tcggaggagc tgccccatgt ctatgaacaa tctgcatggg gtgcagaaga
      721 gttaggcccc ttcctacgtt tgtgccttat ggatcagaat ttcccagcat ttgtggaaga
      781 ggtagaaaag gaactgaaaa agctggcggg tttgagaaat taatgctcta tatacatata
      841 taactaagga acttcaaagt attgaaaaat gcttcctcct aaaattaaag aagatattag
      901 aataaagagt attatccaaa
//
LOCUS       NM_001042371            3164 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens phosphoglycolate phosphatase (PGP), mRNA.
ACCESSION   NM_001042371
VERSION     NM_001042371.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3164)
  AUTHORS   Torres GG, Nygaard M, Caliebe A, Blanche H, Chantalat S, Galan P,
            Lieb W, Christiansen L, Deleuze JF, Christensen K, Strauch K,
            Muller-Nurasyid M, Peters A, Nothen MM, Hoffmann P, Flachsbart F,
            Schreiber S, Ellinghaus D, Franke A, Dose J and Nebel A.
  TITLE     Exome-Wide Association Study Identifies FN3KRP and PGP as New
            Candidate Longevity Genes
  JOURNAL   J Gerontol A Biol Sci Med Sci 76 (5), 786-795 (2021)
   PUBMED   33491046
  REMARK    GeneRIF: Exome-Wide Association Study Identifies FN3KRP and PGP as
            New Candidate Longevity Genes.
REFERENCE   2  (bases 1 to 3164)
  AUTHORS   Segerer G, Engelmann D, Kaestner A, Trotzmuller M, Kofeler H,
            Stigloher C, Thiele C, Jeanclos E and Gohla A.
  TITLE     A phosphoglycolate phosphatase/AUM-dependent link between
            triacylglycerol turnover and epidermal growth factor signaling
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1863 (6), 584-594 (2018)
   PUBMED   29524543
  REMARK    GeneRIF: data explain how PGP exerts control over EGF-induced
            cellular protein tyrosine phosphorylation, and reveal an unexpected
            influence of triacylglycerol turnover on growth factor signaling.
REFERENCE   3  (bases 1 to 3164)
  AUTHORS   Beaudoin GA and Hanson AD.
  TITLE     A Guardian Angel Phosphatase for Mainline Carbon Metabolism
  JOURNAL   Trends Biochem Sci 41 (11), 893-894 (2016)
   PUBMED   27544441
  REMARK    GeneRIF: Phosphoglycolate phosphatase rescues central carbon
            metabolism from toxic secondary metabolites in humans and yeast.
REFERENCE   4  (bases 1 to 3164)
  AUTHORS   Mugabo Y, Zhao S, Seifried A, Gezzar S, Al-Mass A, Zhang D,
            Lamontagne J, Attane C, Poursharifi P, Iglesias J, Joly E, Peyot ML,
            Gohla A, Madiraju SR and Prentki M.
  TITLE     Identification of a mammalian glycerol-3-phosphate phosphatase: Role
            in metabolism and signaling in pancreatic beta-cells and hepatocytes
  JOURNAL   Proc Natl Acad Sci U S A 113 (4), E430-E439 (2016)
   PUBMED   26755581
REFERENCE   5  (bases 1 to 3164)
  AUTHORS   Jansson PJ, Yamagishi T, Arvind A, Seebacher N, Gutierrez E, Stacy
            A, Maleki S, Sharp D, Sahni S and Richardson DR.
  TITLE     Di-2-pyridylketone 4,4-dimethyl-3-thiosemicarbazone (Dp44mT)
            overcomes multidrug resistance by a novel mechanism involving the
            hijacking of lysosomal P-glycoprotein (Pgp)
  JOURNAL   J Biol Chem 290 (15), 9588-9603 (2015)
   PUBMED   25720491
  REMARK    GeneRIF: Data indicate that Di-2-pyridylketone
            4,4-dimethyl-3-thiosemicarbazone (Dp44mT) overcomes multidrug
            resistance (MDR) via utilization of lysosomal P-glycoprotein (Pgp)
            transport activity.
REFERENCE   6  (bases 1 to 3164)
  AUTHORS   de Leon J, Susce MT, Pan RM, Koch WH and Wedlund PJ.
  TITLE     Polymorphic variations in GSTM1, GSTT1, PgP, CYP2D6, CYP3A5, and
            dopamine D2 and D3 receptors and their association with tardive
            dyskinesia in severe mental illness
  JOURNAL   J Clin Psychopharmacol 25 (5), 448-456 (2005)
   PUBMED   16160620
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3164)
  AUTHORS   Turzanski J, Grundy M, Shang S, Russell N and Pallis M.
  TITLE     P-glycoprotein is implicated in the inhibition of ceramide-induced
            apoptosis in TF-1 acute myeloid leukemia cells by modulation of the
            glucosylceramide synthase pathway
  JOURNAL   Exp Hematol 33 (1), 62-72 (2005)
   PUBMED   15661399
  REMARK    GeneRIF: cerp-gp confers resistance to ceramide-induced apoptosis,
            with modulation of the ceramide-glucosylceramide pathway GCS making
            a marked contribution to this resistance
REFERENCE   8  (bases 1 to 3164)
  AUTHORS   Zhou S, Chan E, Pan SQ, Huang M and Lee EJ.
  TITLE     Pharmacokinetic interactions of drugs with St John's wort
  JOURNAL   J Psychopharmacol 18 (2), 262-276 (2004)
   PUBMED   15260917
  REMARK    GeneRIF: 'The available data indicate that St. John's wort is a
            potent induced of CYP 3A4 and P-glycoprotein (PgP), although it may
            inhibit or induce other CYPs...' See page 262. Review article
REFERENCE   9  (bases 1 to 3164)
  AUTHORS   Mulley JC, Barton N and Callen DF.
  TITLE     Localisation of human PGP and HAGH genes to 16p13.3
  JOURNAL   Cytogenet Cell Genet 53 (2-3), 175-176 (1990)
   PUBMED   2164460
REFERENCE   10  (bases 1 to 3164)
  AUTHORS   Koeffler,H.P., Sparkes,R.S., Stang,H. and Mohandas,T.
  TITLE     Regional assignment of genes for human alpha-globin and
            phosphoglycollate phosphatase to the short arm of chromosome 16
  JOURNAL   Proc Natl Acad Sci U S A 78 (11), 7015-7018 (1981)
   PUBMED   6273902
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.10732.1,
            SRR1803616.239423.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000333503.8/ ENSP00000330918.7
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009065.8, AW161386.1, BC035985.1, DA336356.1 and AK026146.1.
            On May 17, 2019 this sequence version replaced NM_001042371.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..3164
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..3164
                     /gene="PGP"
                     /gene_synonym="AUM; G3PP; PGPase"
                     /note="phosphoglycolate phosphatase"
                     /db_xref="GeneID:283871"
                     /db_xref="HGNC:HGNC:8909"
                     /db_xref="MIM:172280"
     CDS             64..1029
                     /gene="PGP"
                     /gene_synonym="AUM; G3PP; PGPase"
                     /EC_number="3.1.3.48"
                     /EC_number="3.1.3.21"
                     /note="aspartate-based ubiquitous Mg(2+)-dependent
                     phosphatase"
                     /codon_start=1
                     /product="glycerol-3-phosphate phosphatase"
                     /protein_id="NP_001035830.1"
                     /db_xref="CCDS:CCDS42104.1"
                     /db_xref="GeneID:283871"
                     /db_xref="HGNC:HGNC:8909"
                     /db_xref="MIM:172280"
                     /translation="MAAAEAGGDDARCVRLSAERAQALLADVDTLLFDCDGVLWRGETA
                     VPGAPEALRALRARGKRLGFITNNSSKTRAAYAEKLRRLGFGGPAGPGASLEVFGTAYC
                     TALYLRQRLAGAPAPKAYVLGSPALAAELEAVGVASVGVGPEPLQGEGPGDWLHAPLEP
                     DVRAVVVGFDPHFSYMKLTKALRYLQQPGCLLVGTNMDNRLPLENGRFIAGTGCLVRAV
                     EMAAQRQADIIGKPSRFIFDCVSQEYGINPERTVMVGDRLDTDILLGATCGLKTILTLT
                     GVSTLGDVKNNQESDCVSKKKMVPDFYVDSIADLLPALQG"
     misc_feature    673..675
                     /gene="PGP"
                     /gene_synonym="AUM; G3PP; PGPase"
                     /note="Important for substrate specificity.
                     /evidence=ECO:0000250|UniProtKB:Q8CHP8; propagated from
                     UniProtKB/Swiss-Prot (A6NDG6.1); other site"
     regulatory      1054..1059
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGP"
                     /gene_synonym="AUM; G3PP; PGPase"
                     /note="hexamer: AATAAA"
     polyA_site      1076
                     /gene="PGP"
                     /gene_synonym="AUM; G3PP; PGPase"
                     /note="major polyA site"
     regulatory      2743..2748
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGP"
                     /gene_synonym="AUM; G3PP; PGPase"
                     /note="hexamer: ATTAAA"
     polyA_site      2760
                     /gene="PGP"
                     /gene_synonym="AUM; G3PP; PGPase"
                     /note="major polyA site"
ORIGIN
        1 gagggcgccg cggcgggcgg ctgcgaggag cggccggcgg gcggcggcgg ccggcgggcg
       61 gcgatggcgg cggcggaggc cggtggcgac gacgcccgct gcgtgcggct gagcgccgag
      121 cgggcacagg cgctgctggc cgacgtggac acgctgctgt tcgactgcga cggcgtgctg
      181 tggcgcgggg agaccgccgt gcctggcgcg cccgaggccc tgcgggcgct gcgagcccgc
      241 ggcaagcgcc tgggcttcat caccaacaac agcagcaaga cccgcgctgc ctacgccgag
      301 aagctgcggc gcctgggctt cggcggcccc gcggggcccg gcgccagcct ggaggtcttc
      361 ggcacggcct actgcaccgc gctctacctg cgccagcgcc tggccggcgc ccccgcgccc
      421 aaggcctacg tgctgggcag cccagccctg gccgcggagc tggaggccgt gggcgtcgcc
      481 agcgtgggcg tggggcccga gccactgcag ggcgagggtc ccggcgactg gctgcacgcg
      541 ccgctggagc ccgacgtgcg cgcggtggtg gtgggctttg acccgcactt cagctacatg
      601 aagctcacca aggccctgcg ctacctgcag cagcccggct gcctgctcgt gggcaccaac
      661 atggacaacc ggcttccgct tgagaacggc cgcttcatcg cgggtaccgg gtgtctggtc
      721 cgagccgtgg agatggccgc ccagcgccag gccgacatca tcgggaagcc cagccgcttc
      781 attttcgact gcgtgtccca ggaatacggc atcaaccccg agcgcaccgt catggtggga
      841 gaccgcctgg acacagacat cctcctaggc gccacctgtg gcctgaagac catcctgacc
      901 ctcaccggag tctccactct aggggatgtg aagaataatc aggaaagtga ctgcgtgtct
      961 aagaagaaaa tggtccctga cttctatgtt gacagcatag ccgacctttt gcctgccctt
     1021 caaggttaaa gattgagtgt ctttaatctg cagaataaaa aaaaagaaat tgaaaaccag
     1081 ttacccaaat taataggtgg ggcttaagca tctgctcggc taagtggctt caaagagtgt
     1141 aattggagtt aagcaaaggc attcattgtt aaccttgtaa gtacacgttt gggggacgat
     1201 tttgtttaca gatgcttgta atcgaagatg cacttttagg cttggaaggc gttgtgggct
     1261 gggttctggg ccttgggtgg ggttggcagg ggcaggctct gcacctgtcc gggattcagg
     1321 taaccagggc ctgccgatgg gactgaggcg ggtctagggg tgtgtgtcct gtattttatt
     1381 gaaaaactca ttcagggatc cagcccctca gggggcagag ggactgatta ttctgactgt
     1441 tgggagaggc ttgcatggac cagagcccca tcagtatgac tgaaagtcca gcggagcctt
     1501 ctgtgtccct gtgcctccca gcagggtggg agtggaggag gcggctgctc ccaggtggca
     1561 tctccctgcc cttgggtgca aagtgctgcc ctcaccactc tcccacctcc cttacttcct
     1621 tgaaaaccac tctgatgtca caactgagtg tctgttccgt ttcagatacc cagggctgct
     1681 gcccagttct gtaaacgcag cccagctaaa gctctgctgt ctcaagtgtg catttatacc
     1741 caggtgattt ggacggagca gctaccatgg cgtggacgcc ttcactgaac tccgggctgc
     1801 agtgcaggga gctcagagca gtgctgctac cagtttttaa ctttgaacaa ctgtgtcagg
     1861 caatggattt gaattttaag tgtattaata gctgtgctct gtgtcgtagg caaaattcca
     1921 ctgaaggagc ctctgtgccc tgcagccggc agcgcggctg aagcatgtgt tggccaagga
     1981 atgcctgtca tccaggtgcc ctgcagccag cagcgcggct caagcatgtg ttggccaagg
     2041 aatgcctgtc agtcatccag ggctctggga ggggacgaga gttatgtccc caagaacagg
     2101 aagtccttta caaagcatcc agtctcttcc tgtcctcccc ttccctaggc tggggtaggg
     2161 gttagagact ggtggcccag gaggtcacct gccttgccct ggattccctc ttcagtggcc
     2221 agcaggactt ggcagggcca ccagctcgcc aaggttctgg gcggggctcc agcctctcct
     2281 gcctgctcct tggctctgct gacctttcac aggcctgaca gcagactcag cagggccatc
     2341 ccgggatgct gcaccttctg gctggctccc taccagcgcc tttccctgta cctggcagct
     2401 tctctcttgg ccccacagtc acagcactcc acttggtcac aaagacttca gagcaataag
     2461 aggcgtcctg agccttcagc acctcccagg cctgggatat cgggttcaga gggtgctgca
     2521 gagcagcatg agggtggctc cacccatgag gctggtgaca ctgacgctgg cttggctaag
     2581 ttggctcaag ccgggtctgg cctgacaggg tgcagtcaca ccaggagcgc atggcagatg
     2641 cagcctcagt gatgcctctc ttgccgggta ggggctggga gtccccgtgc atcctgtctc
     2701 tggcccatga ggggctgcag cactgtgggc gccagagcac agattaaact ctcaaaccca
     2761 cactggctca ggtgtccttg ctctcacctt gcattggccc gggtgatgcc gtctcaccac
     2821 gggtgggagg actcaaagta gatgggtaac tggggttcca actccagagc tggaatgcca
     2881 actgcccact cccagcctgg ttcagaggaa gatgttttga agaatgaggg aaagccaggc
     2941 acaaagggaa gccagggaag caaagggccc tggagtgaag ctggtgggct gccgtgtcag
     3001 agcgcccagg gcagggagca gagctcagaa gtaatgctgg cccgggcgca gtggctcaca
     3061 cccgtaatcc caacgctttg gaaggctgag gcaggtggat tacttgagat caggagttca
     3121 agaccagcct ggccaaaatg gtgaaaaccc atctctacta aaaa
//
LOCUS       NM_001042388            3923 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens protein phosphatase 4 regulatory subunit 1 (PPP4R1),
            transcript variant 1, mRNA.
ACCESSION   NM_001042388
VERSION     NM_001042388.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3923)
  AUTHORS   Wang B, Pan LY, Kang N and Shen XY.
  TITLE     PP4R1 interacts with HMGA2 to promote non-small-cell lung cancer
            migration and metastasis via activating MAPK/ERK-induced
            epithelial-mesenchymal transition
  JOURNAL   Mol Carcinog 59 (5), 467-477 (2020)
   PUBMED   32077156
  REMARK    GeneRIF: PP4R1 interacts with HMGA2 to promote non-small-cell lung
            cancer migration and metastasis via activating MAPK/ERK-induced
            epithelial-mesenchymal transition.
REFERENCE   2  (bases 1 to 3923)
  AUTHORS   Abdul-Sada H, Muller M, Mehta R, Toth R, Arthur JSC, Whitehouse A
            and Macdonald A.
  TITLE     The PP4R1 sub-unit of protein phosphatase PP4 is essential for
            inhibition of NF-kappaB by merkel polyomavirus small tumour antigen
  JOURNAL   Oncotarget 8 (15), 25418-25432 (2017)
   PUBMED   28445980
  REMARK    GeneRIF: Data identify PP4R1 as a novel target for virus subversion
            of the host anti-viral response.
REFERENCE   3  (bases 1 to 3923)
  AUTHORS   St-Denis N, Gupta GD, Lin ZY, Gonzalez-Badillo B, Veri AO, Knight
            JDR, Rajendran D, Couzens AL, Currie KW, Tkach JM, Cheung SWT,
            Pelletier L and Gingras AC.
  TITLE     Phenotypic and Interaction Profiling of the Human Phosphatases
            Identifies Diverse Mitotic Regulators
  JOURNAL   Cell Rep 17 (9), 2488-2501 (2016)
   PUBMED   27880917
REFERENCE   4  (bases 1 to 3923)
  AUTHORS   Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA,
            Weisswange I, Mansfeld J, Buchholz F, Hyman AA and Mann M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   5  (bases 1 to 3923)
  AUTHORS   Hadweh P, Habelhah H, Kieff E, Mosialos G and Hatzivassiliou E.
  TITLE     The PP4R1 subunit of protein phosphatase PP4 targets TRAF2 and TRAF6
            to mediate inhibition of NF-kappaB activation
  JOURNAL   Cell Signal 26 (12), 2730-2737 (2014)
   PUBMED   25134449
  REMARK    GeneRIF: PP4R1 could mediate the dephosphorylation of TRAF2 Ser11.
REFERENCE   6  (bases 1 to 3923)
  AUTHORS   Toyo-oka K, Mori D, Yano Y, Shiota M, Iwao H, Goto H, Inagaki M,
            Hiraiwa N, Muramatsu M, Wynshaw-Boris A, Yoshiki A and Hirotsune S.
  TITLE     Protein phosphatase 4 catalytic subunit regulates Cdk1 activity and
            microtubule organization via NDEL1 dephosphorylation
  JOURNAL   J Cell Biol 180 (6), 1133-1147 (2008)
   PUBMED   18347064
REFERENCE   7  (bases 1 to 3923)
  AUTHORS   Gingras AC, Caballero M, Zarske M, Sanchez A, Hazbun TR, Fields S,
            Sonenberg N, Hafen E, Raught B and Aebersold R.
  TITLE     A novel, evolutionarily conserved protein phosphatase complex
            involved in cisplatin sensitivity
  JOURNAL   Mol Cell Proteomics 4 (11), 1725-1740 (2005)
   PUBMED   16085932
REFERENCE   8  (bases 1 to 3923)
  AUTHORS   Zhang X, Ozawa Y, Lee H, Wen YD, Tan TH, Wadzinski BE and Seto E.
  TITLE     Histone deacetylase 3 (HDAC3) activity is regulated by interaction
            with protein serine/threonine phosphatase 4
  JOURNAL   Genes Dev 19 (7), 827-839 (2005)
   PUBMED   15805470
REFERENCE   9  (bases 1 to 3923)
  AUTHORS   Wada T, Miyata T, Inagi R, Nangaku M, Wagatsuma M, Suzuki D,
            Wadzinski BE, Okubo K and Kurokawa K.
  TITLE     Cloning and characterization of a novel subunit of protein
            serine/threonine phosphatase 4 from mesangial cells
  JOURNAL   J Am Soc Nephrol 12 (12), 2601-2608 (2001)
   PUBMED   11729228
REFERENCE   10  (bases 1 to 3923)
  AUTHORS   Kloeker S and Wadzinski BE.
  TITLE     Purification and identification of a novel subunit of protein
            serine/threonine phosphatase 4
  JOURNAL   J Biol Chem 274 (9), 5339-5347 (1999)
   PUBMED   10026142
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK027064.1, AF200478.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000400556.8/ ENSP00000383402.3
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DR006046.1, AK027064.1,
            BC060829.1 and AF100744.1.
            On Jun 2, 2019 this sequence version replaced NM_001042388.2.
            Summary: This gene encodes one of several alternate regulatory
            subunits of serine/threonine protein phosphatase 4 (PP4). The
            protein features multiple HEAT repeats. This protein forms a
            complex with PP4RC. This complex may have a distinct role from
            other PP4 complexes, including regulation of HDAC3 (Zhang et al.,
            PMID: 15805470). There is also a transcribed pseudogene on
            chromosome 20. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jun 2012].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer protein (isoform a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3923
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.22"
     gene            1..3923
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="protein phosphatase 4 regulatory subunit 1"
                     /db_xref="GeneID:9989"
                     /db_xref="HGNC:HGNC:9320"
                     /db_xref="MIM:604908"
     CDS             76..2928
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="isoform a is encoded by transcript variant 1;
                     serine/threonine phosphatase 4; serine/threonine-protein
                     phosphatase 4 regulatory subunit 1"
                     /codon_start=1
                     /product="serine/threonine-protein phosphatase 4 regulatory
                     subunit 1 isoform a"
                     /protein_id="NP_001035847.1"
                     /db_xref="CCDS:CCDS42412.1"
                     /db_xref="GeneID:9989"
                     /db_xref="HGNC:HGNC:9320"
                     /db_xref="MIM:604908"
                     /translation="MADLSLLQEDLQEDADGFGVDDYSSESDVIIIPSALDFVSQDEML
                     TPLGRLDKYAASENIFNRQMVARSLLDTLREVCDDERDCIAVLERISRLADDSEPTVRA
                     ELMEQVPHIALFCQENRPSIPYAFSKFLLPIVVRYLADQNNQVRKTSQAALLALLEQEL
                     IERFDVETKVCPVLIELTAPDSNDDVKTEAVAIMCKMAPMVGKDITERLILPRFCEMCC
                     DCRMFHVRKVCAANFGDICSVVGQQATEEMLLPRFFQLCSDNVWGVRKACAECFMAVSC
                     ATCQEIRRTKLSALFINLISDPSRWVRQAAFQSLGPFISTFANPSSSGQYFKEESKSSE
                     EMSVENKNRTRDQEAPEDVQVRPEDTPSDLSVSNSSVILENTMEDHAAEASGKPLGEIS
                     VPLDSSLLCTLSSESHQEAASNENDKKPGNYKSMLRPEVGTTSQDSALLDQELYNSFHF
                     WRTPLPEIDLDIELEQNSGGKPSPEGPEEESEGPVPSSPNITMATRKELEEMIENLEPH
                     IDDPDVKAQVEVLSAALRASSLDAHEETISIEKRSDLQDELDINELPNCKINQEDSVPL
                     ISDAVENMDSTLHYIHSDSDLSNNSSFSPDEERRTKVQDVVPQALLDQYLSMTDPSRAQ
                     TVDTEIAKHCAYSLPGVALTLGRQNWHCLRETYETLASDMQWKVRRTLAFSIHELAVIL
                     GDQLTAADLVPIFNGFLKDLDEVRIGVLKHLHDFLKLLHIDKRREYLYQLQEFLVTDNS
                     RNWRFRAELAEQLILLLELYSPRDVYDYLRPIALNLCADKVSSVRWISYKLVSEMVKKL
                     HAATPPTFGVDLINELVENFGRCPKWSGRQAFVFVCQTVIEDDCLPMDQFAVHLMPHLL
                     TLANDRVPNVRVLLAKTLRQTLLEKDYFLASASCHQEAVEQTIMALQMDRDSDVKYFAS
                     IHPASTKISEDAMSTASSTY"
     misc_feature    76..150
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: HEAT 1"
     misc_feature    151..264
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: HEAT 2"
     misc_feature    268..318
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: HEAT 3"
     misc_feature    319..432
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: HEAT 4"
     misc_feature    454..567
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: HEAT 5"
     misc_feature    577..693
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: HEAT 6"
     misc_feature    697..813
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: HEAT 7"
     misc_feature    817..930
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: HEAT 8"
     misc_feature    934..1047
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: HEAT 9"
     misc_feature    1051..1197
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1312..1389
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1492..1572
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1588..1701
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: HEAT 10"
     misc_feature    1777..1893
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: HEAT 11"
     misc_feature    2167..2277
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: HEAT 12"
     misc_feature    2470..2586
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: HEAT 13"
     misc_feature    2656..2769
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TF05.1);
                     Region: HEAT 14"
     misc_feature    2878..2880
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TF05.1); phosphorylation site"
     regulatory      3781..3786
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="hexamer: AATAAA"
     polyA_site      3800
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="major polyA site"
     regulatory      3850..3855
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="hexamer: AATAAA"
     polyA_site      3873
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
     regulatory      3900..3905
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
                     /note="hexamer: ATTAAA"
     polyA_site      3923
                     /gene="PPP4R1"
                     /gene_synonym="MEG1; PP4(Rmeg); PP4R1"
ORIGIN
        1 accggctccc cggctcgcgc cgctccatgt agccccggct ccccgggcgg ccgcggagga
       61 gggggcgacc acaagatggc ggacctctcg ctgcttcagg aggacctgca ggaggacgca
      121 gacggatttg gtgtggatga ctacagctca gagtctgatg tgattattat accttcagcc
      181 ctggactttg tctcacaaga tgaaatgttg acgcccctgg ggagattgga caagtatgct
      241 gcaagtgaga acatatttaa cagacaaatg gtggcccgga gtttgctcga taccttgagg
      301 gaagtctgcg atgatgaaag agattgtatt gctgttttgg aaagaattag cagattggcc
      361 gatgattcag aaccaactgt gagagcggag ctgatggaac aggtgcctca catcgcactg
      421 ttttgtcaag aaaaccggcc ttcaatacca tatgcttttt caaaattctt actacctatt
      481 gtggttagat accttgcaga tcagaataat caggtgagga aaacaagtca ggcagctttg
      541 ctggctctgt tggagcagga gctcattgaa cgatttgatg tggagaccaa agtgtgccct
      601 gtcctcatag agctgacagc cccagatagc aatgatgatg tgaaaacaga agctgtggct
      661 ataatgtgca aaatggctcc catggttggg aaggatatta cagagcgtct tatcctccct
      721 aggttttgtg agatgtgctg cgattgcaga atgtttcacg ttcgaaaggt ctgtgctgcc
      781 aattttggag atatttgcag tgtagttggc cagcaagcta ctgaagaaat gttgctgccc
      841 agatttttcc agctttgttc tgataatgta tggggagtcc gaaaggcttg tgctgaatgc
      901 ttcatggcgg tttcatgtgc aacatgtcaa gaaatccgac ggaccaaatt atcagcactt
      961 tttattaatt tgatcagtga tccttcacgt tgggttcgcc aagcagcttt tcagtctctg
     1021 ggacctttca tatctacttt tgctaatcca tctagctcag gccagtattt taaagaagaa
     1081 agcaaaagtt cagaagagat gtcagtagaa aacaaaaata ggaccagaga tcaagaagcc
     1141 ccagaggatg tacaagtcag gccagaggat actccttcag atctcagtgt tagtaattcc
     1201 agtgtcatac tggaaaacac gatggaagac catgctgctg aggcatccgg gaagcctcta
     1261 ggtgaaatta gtgttccact ggacagctct ttactttgta ctttgtcctc agaatctcac
     1321 caggaagcag ctagtaatga gaatgataaa aaacctggta actacaaatc tatgttacga
     1381 ccagaggttg gcaccacttc acaagattca gctctcttag atcaggaatt gtataactcc
     1441 ttccatttct ggaggactcc tcttcctgaa atagatctag acatagagct tgaacagaac
     1501 tctgggggaa aacccagccc agagggacca gaggaagaat ctgagggccc tgtgcccagt
     1561 tctccaaaca tcaccatggc caccagaaag gaactggaag aaatgataga aaatctagag
     1621 ccccacattg atgatccaga tgttaaagca caagtggaag tgctgtccgc tgcactacgt
     1681 gcttccagcc tggatgcaca tgaagagacc atcagtatag aaaagagaag tgatttgcaa
     1741 gatgaactgg atataaatga gctaccaaat tgtaaaataa atcaagaaga ttctgtgcct
     1801 ttaatcagcg atgctgttga gaatatggac tccactcttc actatattca cagcgattca
     1861 gacttgagca acaatagcag ttttagccct gatgaggaaa ggagaactaa agtacaagat
     1921 gttgtacctc aggcgttgtt agatcagtat ttatctatga ctgacccttc tcgtgcacag
     1981 acggttgaca ctgaaattgc taagcactgt gcatatagcc tccctggtgt ggccttgaca
     2041 ctcggaagac agaattggca ctgcctgaga gagacgtatg agactctggc ctcagacatg
     2101 cagtggaaag ttcgacgaac tctagcattc tccatccacg agcttgcagt tattcttgga
     2161 gatcaattga cagctgcaga tctggttcca atttttaatg gatttttaaa agacctcgat
     2221 gaagtcagga taggtgttct taaacacttg catgattttc tgaagcttct tcatattgac
     2281 aaaagaagag aatatcttta tcaacttcag gagtttttgg tgacagataa tagtagaaat
     2341 tggcggtttc gagctgaact ggctgaacag ctgattttac ttctagagtt atatagtccc
     2401 agagatgttt atgactattt acgtcccatt gctctgaatc tgtgtgcaga caaagtttct
     2461 tctgttcgtt ggatttccta caagttggtc agcgagatgg tgaagaagct gcacgcggca
     2521 acaccaccaa cgttcggagt ggacctcatc aatgagcttg tggagaactt tggcagatgt
     2581 cccaagtggt ctggtcggca agcctttgtc tttgtctgcc agactgtcat tgaggatgac
     2641 tgccttccca tggaccagtt tgctgtgcat ctcatgccgc atctgctaac cttagcaaat
     2701 gacagggttc ctaacgtgcg agtgctgctt gcaaagacat taagacaaac tctactagaa
     2761 aaagactatt tcttggcctc tgccagctgc caccaggagg ctgtggagca gaccatcatg
     2821 gctcttcaga tggaccgtga cagcgatgtc aagtattttg caagcatcca ccctgccagt
     2881 accaaaatct ccgaagatgc catgagcaca gcgtcctcaa cctactagaa ggcttgaatc
     2941 tcggtgtctt tcctgcttcc atgagagccg aggttcagtg ggcattcgcc acgcatgtga
     3001 cctgggatag ctttcggggg aggagagacc ttcctctcct gcggacttca ttgcaggtgc
     3061 aagttgccta cacccaatac cagggatttc aagagtcaag agaaagtaca gtaaacacta
     3121 ttatcttatc ttgactttaa ggggaaataa tttctcagag gattataatt gtcaccgaag
     3181 ccttaaatcc ttctgtcttc ctgactgaat gaaacttgaa ttggcagagc attttcctta
     3241 tggaagggat gagattccca gagacctgca ttgctttctc ctggttttat ttaacaatcg
     3301 acaaatgaaa ttcttacagc ctgaaggcag acgtgtgccc agatgtgaaa gagaccttca
     3361 gtatcagccc taactcttct ctcccaggaa ggacttgctg ggctctgtgg ccagctgtcc
     3421 agcccagccc tgtgtgtgaa tcgtttgtga cgtgtgcaaa tgggaaagga ggggttttta
     3481 catctcctaa aggacctgat gccaacacaa gtaggattga cttaaactct taagcgcagc
     3541 atattgctgt acacatttac agaatggttg ctgagtgtct gtgtctgatt ttttcatgct
     3601 ggtcatgacc tgaaggaaat ttattagacg tataatgtat gtctggtgtt tttaacttga
     3661 tcatgatcag ctctgaggtg caacttcttc acatactgta catacctgtg accactcttg
     3721 ggagtgctgc agtctttaat catgctgttt aaactgttgt ggcacaagtt ctcttgtcca
     3781 aataaaattt attaataaga tctatagaga gagatatata cacttttgat tgttttctag
     3841 atgtctacca ataaatgcaa tttgtgacct gtattaatga tttaaagtgg ggaaactaga
     3901 ttaaaatatt tgtcttttaa cta
//
LOCUS       NM_001042406            2449 bp    mRNA    linear   PRI 23-AUG-2023
DEFINITION  Homo sapiens 3-hydroxy-3-methylglutaryl-CoA lyase like 1 (HMGCLL1),
            transcript variant 2, mRNA.
ACCESSION   NM_001042406
VERSION     NM_001042406.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2449)
  AUTHORS   Arnedo M, Menao S, Puisac B, Teresa-Rodrigo ME, Gil-Rodriguez MC,
            Lopez-Vinas E, Gomez-Puertas P, Casals N, Casale CH, Hegardt FG and
            Pie J.
  TITLE     Characterization of a novel HMG-CoA lyase enzyme with a dual
            location in endoplasmic reticulum and cytosol
  JOURNAL   J Lipid Res 53 (10), 2046-2056 (2012)
   PUBMED   22847177
  REMARK    GeneRIF: there are nine mature transcripts for the novel gene
            HMGCLL1
REFERENCE   2  (bases 1 to 2449)
  AUTHORS   Montgomery C, Pei Z, Watkins PA and Miziorko HM.
  TITLE     Identification and characterization of an extramitochondrial human
            3-hydroxy-3-methylglutaryl-CoA lyase
  JOURNAL   J Biol Chem 287 (40), 33227-33236 (2012)
   PUBMED   22865860
  REMARK    GeneRIF: analysis of HMGCLL1 as an extramitochondrial human
            3-hydroxy-3-methylglutaryl-CoA lyase and comparison with MHGCL
REFERENCE   3  (bases 1 to 2449)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   4  (bases 1 to 2449)
  AUTHORS   Mitchell GA, Robert MF, Hruz PW, Wang S, Fontaine G, Behnke CE,
            Mende-Mueller LM, Schappert K, Lee C, Gibson KM, Miziorko HM et al.
  TITLE     3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human
            and chicken liver HL cDNAs and characterization of a mutation
            causing human HL deficiency
  JOURNAL   J Biol Chem 268 (6), 4376-4381 (1993)
   PUBMED   8440722
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3472570.1,
            SRR14038196.2054831.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467146
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000274901.9/ ENSP00000274901.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA508472.1, BC024194.2, AL137605.1, AL590406.6 and AF131827.1.
            On Feb 27, 2020 this sequence version replaced NM_001042406.1.
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1. It encodes
            isoform b, which is shorter than isoform a.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2449
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.1"
     gene            1..2449
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /note="3-hydroxy-3-methylglutaryl-CoA lyase like 1"
                     /db_xref="GeneID:54511"
                     /db_xref="HGNC:HGNC:21359"
                     /db_xref="MIM:619050"
     CDS             138..1160
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /EC_number="4.1.3.4"
                     /note="isoform b is encoded by transcript variant 2;
                     3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1;
                     probable 3-hydroxymethyl-3-methylglutaryl-CoA lyase 2;
                     3-hydroxymethyl-3-methylglutaryl-CoA lyase L1;
                     3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic;
                     3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1;
                     endoplasmic reticulum and cytosol HMG-CoA lyase;
                     3-hydroxymethyl-3-methylglutaryl-CoA lyase-like protein 1;
                     endoplasmic reticulum 3-hydroxymethyl-3-methylglutaryl-CoA
                     lyase; 3-hydroxymethyl-3-methylglutaryl-CoA lyase,
                     cytoplasmic; 3-hydroxy-3-methylglutaryl-CoA lyase-like
                     protein 1; endoplasmic reticulum
                     3-hydroxy-3-methylglutaryl-CoA lyase; HMGCL-like 1"
                     /codon_start=1
                     /product="3-hydroxymethyl-3-methylglutaryl-CoA lyase,
                     cytoplasmic isoform b"
                     /protein_id="NP_001035865.1"
                     /db_xref="CCDS:CCDS43474.1"
                     /db_xref="GeneID:54511"
                     /db_xref="HGNC:HGNC:21359"
                     /db_xref="MIM:619050"
                     /translation="MGNVPSAVKHCLSYQQLLREHLWIGDSVAGALDPAQETSQLSGLP
                     EFVKIVEVGPRDGLQNEKVIVPTDIKIEFINRLSQTGLSVIEVTSFVSSRWVPQMADHT
                     EVMKGIHQYPGVRYPVLTPNLQGFHHAVAAGATEISVFGAASESFSKKNINCSIEESMG
                     KFEEVVKSARHMNIPARGYVSCALGCPYEGSITPQKVTEVSKRLYGMGCYEISLGDTIG
                     VGTPGSMKRMLESVMKEIPPGALAVHCHDTYGQALANILTALQMGINVVDSAVSGLGGC
                     PYAKGASGNVATEDLIYMLNGLGLNTGVNLYKVMEAGDFICKAVNKTTNSKVAQASFNA
                     "
     regulatory      1369..1374
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /note="hexamer: AATAAA"
     polyA_site      1403
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
     regulatory      2425..2430
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /note="hexamer: AATAAA"
     regulatory      2431..2436
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /note="hexamer: AATAAA"
     polyA_site      2445
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /note="major polyA site"
     polyA_site      2449
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /note="major polyA site"
ORIGIN
        1 gcagaacagc tctggtcctc acagccagtg caccggaggg gcgcgctccc gagctggcgc
       61 agtttcccag cgcggtgccc gcccctcatc ctcctccagt ctccctcccc tcgccgactg
      121 ccgccccagg ctccgccatg gggaatgtgc catccgcggt gaagcactgc ctcagctacc
      181 agcagcttct ccgggagcat ctctggatcg gggattcagt ggcaggggcg ctcgaccccg
      241 cgcaggaaac atcccagtta tctggactcc ctgagtttgt taaaatagta gaagttgggc
      301 ctagggatgg attgcagaat gaaaaggtta tagttcctac agatataaaa attgaattta
      361 tcaatcgact ttcccaaact ggcttgtctg taatagaagt gactagcttt gtgtcttcca
      421 gatgggtacc acagatggct gatcacactg aagtaatgaa aggcattcat caatatccag
      481 gagttcgcta tcctgtcctt actcctaatc ttcagggttt tcaccatgct gttgctgctg
      541 gagctactga gatatcagtt tttggagctg catctgaatc ctttagcaag aagaatatta
      601 actgttccat tgaagaaagt atgggaaaat ttgaggaggt tgttaagtct gcaagacaca
      661 tgaatattcc agcacgaggg tatgtgtctt gtgctctggg ctgtccatat gaaggaagta
      721 ttacaccgca aaaagtgaca gaagtgtcta agagattgta cggcatgggt tgttatgaga
      781 tctctctagg agacacaatt ggagtgggaa ctccaggaag tatgaaaaga atgttggaaa
      841 gtgtgatgaa agaaatccca ccaggtgctc ttgctgttca ctgtcatgac acatacggac
      901 aagccttagc aaatatcctt acggcccttc agatgggaat taatgtggtg gactccgcag
      961 tatccggatt aggtggctgc ccttatgcaa aaggtgcttc tgggaatgta gccactgagg
     1021 atttgatata tatgcttaat ggcctggggc tcaatacagg tgtgaatcta tacaaagtga
     1081 tggaagctgg tgactttatt tgcaaagctg tgaataaaac cacaaactct aaagtagcac
     1141 aagcctcctt caatgcttga cttgaatgga tttatgacgt accgttgaga agatcaattt
     1201 cagctacaat actcatctga aaatcattaa tgccaacttg ctctgatatg tgaagtaatg
     1261 gacaagagtg ggaaaaaaga gatccttttc aaaaagatta taactggata gattaagtca
     1321 acaaaatgca atatcagtca tcaggtaaat tgcaagctga ggataaataa taaaacttgt
     1381 cataattttg aacttggaaa aaagtttctt ttgctctcat agaaataact ttttaattta
     1441 gtagatggga aaattgactt cgtatttccc caagtatcaa atactgtgtt aatacttaat
     1501 caagcaggct taacactgtg tacatattgt cagtagttta tgagctcctg catagtatgc
     1561 agagtgtgtg gcctcaatat tatacattat gcctctggat ctcaactact catttgccaa
     1621 gtcagttatg ttatggacca aaagccaaat ctccatctga ccctacataa ttttagcaat
     1681 agaactttta tatttcaagt atggctaaca tctgttaact atttcagtga ctttatctgg
     1741 ttccaagagg ctgtggccaa tggcaagatg ccatatcctg gaaacatatt acgacctccc
     1801 atgtttgtta catgcatcca gtttaccaca ctttacctgt catcagttat agtaaaaacc
     1861 agcatggtgt tactcaacta ttgagaaatt gtaagctatt tttttttgtc ctgatgtcta
     1921 aattgcagtg ataagaatag gttgatacat gtatcataat ctacctttat aattttcaga
     1981 tcactttcaa attgcccaag gaaatattgt gatcctaaga atattaagat aattttaggt
     2041 taatgaaata cccattttcc ttttattcat ggtgctttgc ttacccacat tattttttgg
     2101 tgtatttttt agtggttatt ttagaagttg aagtggctga aattttgtct attgtcttag
     2161 aattgattgc cagaaattgc aagatgtaat atatcaaagt cagggatgag gagcaggagg
     2221 actattcaag ataaacttct gtaacctatg catattttat gggggcagta ttattacaaa
     2281 tggatctgaa atgtcagttc tagtatttag agagacttct ctaataatac cgggtgatat
     2341 tatctttgag taaatttgaa tataaattga aacataaaaa tgagtattgt gaactttcta
     2401 ggaaatattc attaaaacca ttgaaataaa aataaattca agaaagtaa
//
LOCUS       NM_001042413            7684 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant
            1, mRNA.
ACCESSION   NM_001042413
VERSION     NM_001042413.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7684)
  AUTHORS   Zhang Y, Wang B, Song H and Han M.
  TITLE     GLIS3, a novel prognostic indicator of gastric adenocarcinoma,
            contributes to the malignant biological behaviors of tumor cells via
            modulating TGF-beta1/TGFbetaR1/Smad1/5 signaling pathway
  JOURNAL   Cytokine 170, 156342 (2023)
   PUBMED   37651918
  REMARK    GeneRIF: GLIS3, a novel prognostic indicator of gastric
            adenocarcinoma, contributes to the malignant biological behaviors of
            tumor cells via modulating TGF-beta1/TGFbetaR1/Smad1/5 signaling
            pathway.
REFERENCE   2  (bases 1 to 7684)
  AUTHORS   Li C and Geng C.
  TITLE     GLIS Family Zinc Finger 3 Promotes Triple-Negative Breast Cancer
            Progression by Inducing Cell Proliferation, Migration and Invasion,
            and Activating the NF-kappaB Signaling Pathway
  JOURNAL   Biol Pharm Bull 46 (2), 209-218 (2023)
   PUBMED   36724950
  REMARK    GeneRIF: GLIS Family Zinc Finger 3 Promotes Triple-Negative Breast
            Cancer Progression by Inducing Cell Proliferation, Migration and
            Invasion, and Activating the NF-kappaB Signaling Pathway.
REFERENCE   3  (bases 1 to 7684)
  AUTHORS   Mohamed LE, Elhadidi ES, Saad WE, Maher MM and Yousry WA.
  TITLE     Gli-similar 3 (GLIS3) rs7020763 (C>G) polymorphism in patients with
            type 2 diabetes mellitus
  JOURNAL   Egypt J Immunol 29 (4), 125-133 (2022)
   PUBMED   36206155
  REMARK    GeneRIF: Gli-similar 3 (GLIS3) rs7020763 (C>G) polymorphism in
            patients with type 2 diabetes mellitus.
REFERENCE   4  (bases 1 to 7684)
  AUTHORS   Zhou Q, Shaya M, Kugeluke Y, Fu Q, Li S and Dilimulati Y.
  TITLE     A circular RNA derived from GLIS3 accelerates the proliferation of
            glioblastoma cells through competitively binding with miR-449c-5p to
            upregulate CAPG and GLIS3
  JOURNAL   BMC Neurosci 23 (1), 53 (2022)
   PUBMED   36114444
  REMARK    GeneRIF: A circular RNA derived from GLIS3 accelerates the
            proliferation of glioblastoma cells through competitively binding
            with miR-449c-5p to upregulate CAPG and GLIS3. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 7684)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   6  (bases 1 to 7684)
  AUTHORS   Grant SF, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT,
            Grabs R, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML,
            Otieno FG, Santa E, Shaner JL, Smith RM, Skraban R, Imielinski M,
            Chiavacci RM, Grundmeier RW, Stanley CA, Kirsch SE, Waggott D,
            Paterson AD, Monos DS, Polychronakos C and Hakonarson H.
  CONSRTM   DCCT/EDIC Research Group
  TITLE     Follow-up analysis of genome-wide association data identifies novel
            loci for type 1 diabetes
  JOURNAL   Diabetes 58 (1), 290-295 (2009)
   PUBMED   18840781
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   7  (bases 1 to 7684)
  AUTHORS   Uhl GR, Liu QR, Drgon T, Johnson C, Walther D, Rose JE, David SP,
            Niaura R and Lerman C.
  TITLE     Molecular genetics of successful smoking cessation: convergent
            genome-wide association study results
  JOURNAL   Arch Gen Psychiatry 65 (6), 683-693 (2008)
   PUBMED   18519826
  REMARK    GeneRIF: Clinical trial and genome-wide association study of
            gene-disease association, gene-environment interaction, and
            pharmacogenomic / toxicogenomic. (HuGE Navigator)
REFERENCE   8  (bases 1 to 7684)
  AUTHORS   Beak JY, Kang HS, Kim YS and Jetten AM.
  TITLE     Functional analysis of the zinc finger and activation domains of
            Glis3 and mutant Glis3(NDH1)
  JOURNAL   Nucleic Acids Res 36 (5), 1690-1702 (2008)
   PUBMED   18263616
REFERENCE   9  (bases 1 to 7684)
  AUTHORS   Senee V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, Charon
            C, Nicolino M, Boileau P, Cavener DR, Bougneres P, Taha D and Julier
            C.
  TITLE     Mutations in GLIS3 are responsible for a rare syndrome with neonatal
            diabetes mellitus and congenital hypothyroidism
  JOURNAL   Nat Genet 38 (6), 682-687 (2006)
   PUBMED   16715098
  REMARK    GeneRIF: results demonstrate a major role for GLIS3 in the
            development of pancreatic beta cells and the thyroid, eye, liver and
            kidney
REFERENCE   10  (bases 1 to 7684)
  AUTHORS   Kim YS, Nakanishi G, Lewandoski M and Jetten AM.
  TITLE     GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc
            finger proteins with repressor and activation functions
  JOURNAL   Nucleic Acids Res 31 (19), 5513-5525 (2003)
   PUBMED   14500813
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3588245.1,
            SRR14038196.1264488.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000381971.8/ ENSP00000371398.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162419.34, AK075059.1,
            DQ438886.1, BC033899.2, AL133283.9, AL137071.22 and AA933816.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001042413.1.
            Summary: This gene is a member of the GLI-similar zinc finger
            protein family and encodes a nuclear protein with five C2H2-type
            zinc finger domains. This protein functions as both a repressor and
            activator of transcription and is specifically involved in the
            development of pancreatic beta cells, the thyroid, eye, liver and
            kidney. Mutations in this gene have been associated with neonatal
            diabetes and congenital hypothyroidism (NDH). Alternatively spliced
            variants that encode different protein isoforms have been described
            but the full-length nature of only two have been determined.
            [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7684
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.2"
     gene            1..7684
                     /gene="GLIS3"
                     /gene_synonym="NDH; ZNF515"
                     /note="GLIS family zinc finger 3"
                     /db_xref="GeneID:169792"
                     /db_xref="HGNC:HGNC:28510"
                     /db_xref="MIM:610192"
     misc_feature    705..707
                     /gene="GLIS3"
                     /gene_synonym="NDH; ZNF515"
                     /note="upstream in-frame stop codon"
     CDS             747..3539
                     /gene="GLIS3"
                     /gene_synonym="NDH; ZNF515"
                     /note="isoform a is encoded by transcript variant 1; zinc
                     finger protein 515; zinc finger protein GLIS3; GLI-similar
                     3; OK/KNS-cl.4"
                     /codon_start=1
                     /product="zinc finger protein GLIS3 isoform a"
                     /protein_id="NP_001035878.1"
                     /db_xref="CCDS:CCDS43784.1"
                     /db_xref="GeneID:169792"
                     /db_xref="HGNC:HGNC:28510"
                     /db_xref="MIM:610192"
                     /translation="MNGRSCSMSLHRTSGTPQGPRMVSGHHIPAIRAHSGTPGPSPCGS
                     TSSPTMASLANNLHLKMPSGGGMAPQNNVAESRIHLPALSPRRQMLTNGKPRFQVTQAG
                     GMSGSHTLKPKQQEFGSPFPPNPGKGALGFGPQCKSIGKGSCNNLVVTSSPMMVQRLGL
                     ISPPASQVSTACNQISPSLQRAMNAANLNIPPSDTRSLISRESLASTTLSLTESQSASS
                     MKQEWSQGYRALPSLSNHGSQNGLDLGDLLSLPPGTSMSSNSVSNSLPSYLFGTESSHS
                     PYPSPRHSSTRSHSARSKKRALSLSPLSDGIGIDFNTIIRTSPTSLVAYINGSRASPAN
                     LSPQPEVYGHFLGVRGSCIPQPRPVPGSQKGVLVAPGGLALPAYGEDGALEHERMQQLE
                     HGGLQPGLVNHMVVQHGLPGPDSQSAGLFKTERLEEFPGSTVDLPPAPPLPPLPPPPGP
                     PPPYHAHAHLHHPELGPHAQQLALPQATLDDDGEMDGIGGKHCCRWIDCSALYDQQEEL
                     VRHIEKVHIDQRKGEDFTCFWAGCPRRYKPFNARYKLLIHMRVHSGEKPNKCTFEGCEK
                     AFSRLENLKIHLRSHTGEKPYLCQHPGCQKAFSNSSDRAKHQRTHLDTKPYACQIPGCT
                     KRYTDPSSLRKHVKAHSSKEQQARKKLRSSTELHPDLLTDCLTVQSLQPATSPRDAAAE
                     GTVGRSPGPGPDLYSAPIFSSNYSSRSGTAAGAVPPPHPVSHPSPGHNVQGSPHNPSSQ
                     LPPLTAVDAGAERFAPSAPSPHHISPRRVPAPSSILQRTQPPYTQQPSGSHLKSYQPET
                     NSSFQPNGIHVHGFYGQLQKFCPPHYPDSQRIVPPVSSCSVVPSFEDCLVPTSMGQASF
                     DVFHRAFSTHSGITVYDLPSSSSSLFGESLRSGAEDATFLQISTVDRCPSQLSSVYTEG
                     "
     regulatory      7316..7321
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLIS3"
                     /gene_synonym="NDH; ZNF515"
                     /note="hexamer: AATAAA"
     polyA_site      7338
                     /gene="GLIS3"
                     /gene_synonym="NDH; ZNF515"
                     /note="major polyA site"
     regulatory      7630..7635
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLIS3"
                     /gene_synonym="NDH; ZNF515"
                     /note="hexamer: AATAAA"
     polyA_site      7684
                     /gene="GLIS3"
                     /gene_synonym="NDH; ZNF515"
ORIGIN
        1 acacacatcc acactcctcg cccggctgcc ttcctccctc cctcttcccc cttcccctct
       61 ccctgcagcc gcgtccacac tgcgccgccc gggcagccca gagcgcggcg cgcacgggca
      121 ccggcggcga gtgccgcggc cactgcccct cccgggaccc cctgtacgcc gtccgcgccg
      181 tccagggtca caccggcgac ggaacccgcc ggcagcaatt agccagcatc ccggggtcgg
      241 cccccagaag cattccccgg cccaggacga ggatgaacag gacaggcgag gcacaaagtc
      301 gcaactgaac tttttagaaa cattatttgt gtgtgtatgt gtgtagcagg ggagaatgag
      361 ctgatgccga gggtccagcc accccgcctc tgcctcctcc tccccctgcc gccgctgccc
      421 tcgcagacgc gcgcgcacac acggcacttg ggccgggttt ccgcgctccg tccccccgtt
      481 tggatggggg ttttcatttc cgaaggaggc acagcccgcg gagcgctctg aagggctgga
      541 gccccaagtt actcctcgcc agcgccggcc gcccgctgtc actcgcgctg gccggccggg
      601 ggaagggacc cgcacgccgg gctttgttgt ggaaatcccg gttacctggc ttataaccca
      661 caccatggat aacttattgg actttgcctg aaaggagtca ttagtgacat tggatatttg
      721 accgtcttgg ccacaggttt ttcagaatga atggaagatc atgcagcatg agtctccacc
      781 ggacatcggg aaccccacag gggcctagga tggtcagtgg tcatcacatt cctgccatcc
      841 gagcccactc cgggactcct ggcccctcgc cctgtggcag cacatcgagt cccactatgg
      901 caagccttgc taacaacctc catctcaaga tgccctcagg aggagggatg gctcctcaga
      961 acaacgtggc tgagagccgc atccatctgc ctgccttaag ccccaggaga caaatgctca
     1021 ccaatgggaa gccgcgattc caggtcaccc aggctggagg catgtcaggg tcacatactt
     1081 taaagccaaa gcagcaggag tttggaagcc cttttcctcc aaatcctggg aaaggggctc
     1141 ttggctttgg gcctcagtgc aagtccattg gaaaaggcag ctgcaacaat ctagtggtca
     1201 ccagcagtcc catgatggtt cagcgactgg gactcatttc acctccagca agccaggtct
     1261 ctacagcatg caaccagatc agtcctagct tacagagggc aatgaatgca gccaacctga
     1321 atatacctcc ttcagatacc aggtccctta tttcgcgtga gtctttggcg tccacgacct
     1381 tgagtctgac ggaaagtcag tcggcctcaa gcatgaagca ggagtggtcc cagggctaca
     1441 gggccctccc ttcgctctcc aaccacggct ctcagaatgg ccttgatcta ggggatctcc
     1501 ttagccttcc tcccgggaca tccatgtcca gcaatagtgt ctctaactca ttaccatcct
     1561 acctttttgg cacggaaagt agccactctc cttaccctag tcctcggcac tcatccacca
     1621 ggtcccactc ggcccgctcc aagaagagag cgctgtcctt gtccccgctg tccgatggca
     1681 tcgggataga tttcaatacc atcatccgca cgtcgcccac gtccttggtg gcctacatca
     1741 acgggtcgag ggcttcgccg gccaacctgt ccccgcagcc ggaggtctac gggcatttcc
     1801 tgggcgtgcg cggcagctgc attccccagc cgcgcccggt gcccggcagc cagaagggcg
     1861 tgctggtggc ccctggaggc ctggcgctgc cggcctacgg cgaggacggg gccctggagc
     1921 acgagcgcat gcaacagctg gagcacggcg gcctgcagcc aggcctggtc aaccacatgg
     1981 tggtgcagca tggcctgccg ggccccgaca gccagtcggc cggcctgttc aagaccgaac
     2041 gcctggagga gttcccgggc agcaccgtag acctaccccc cgcgcctccg ctccctcctc
     2101 tgccgccgcc cccaggcccc ccaccccctt accatgccca tgcgcacctt caccacccgg
     2161 agctcgggcc ccacgcccag cagctggcct tgccccaggc caccctggac gacgacgggg
     2221 agatggacgg catcgggggc aagcattgct gccgctggat cgactgcagc gccctgtacg
     2281 accagcagga ggagctcgtg cggcacatcg agaaggtcca catcgaccag cgcaaagggg
     2341 aggacttcac ttgcttctgg gccggttgcc ctcgaagata caagcccttc aacgcccgct
     2401 ataaactgct gatccacatg agagtccact ctggggagaa gcccaacaag tgtacgtttg
     2461 aaggttgcga gaaggccttt tcaaggcttg aaaatctcaa gatccacttg cggagccaca
     2521 caggcgagaa gccgtatttg tgccagcatc cgggttgtca gaaggccttc agtaactcca
     2581 gtgaccgcgc caaacaccag cggacgcatc tggacaccaa accttatgct tgtcaaattc
     2641 caggatgtac caaacgctac acagacccaa gttccctaag aaagcatgtg aaggcacatt
     2701 cttccaaaga gcaacaagca aggaaaaagt tgcggtccag cacagagctc catccagacc
     2761 tgctcacaga ttgcctcacc gtgcagtccc tgcagccggc cacttcccct agagatgctg
     2821 ctgctgaagg gaccgtggga cgctcccctg gacccgggcc tgacctctat tcagctccca
     2881 ttttctccag caattattca agccgaagtg gaacagctgc tggggccgta ccacccccac
     2941 atcctgtcag tcacccttct ccaggacata atgtacaggg gagccctcac aacccctcct
     3001 cccagttacc tccactcaca gctgtggacg caggagctga gaggtttgca ccttctgctc
     3061 catctcctca ccacatcagc ccccggagag ttccagctcc ttcttcaata ctgcaaagaa
     3121 cacagcctcc ctatacccag cagccatcag gttcacacct gaagtcctat cagccagaaa
     3181 caaactcttc ttttcaacca aatggtatcc atgtccatgg attttatggg cagctgcaga
     3241 agttctgtcc cccacactac cccgattccc agagaattgt gccgcctgtc agctcctgca
     3301 gtgtggtgcc ttcgtttgag gactgcctag tccctacatc catgggccag gccagttttg
     3361 atgttttcca cagagccttc tcgactcact cgggcattac agtgtatgat ttaccttcaa
     3421 gttcctcgag cctctttggg gagtctctcc gcagcggggc tgaagatgct accttcttgc
     3481 agatcagcac cgtggaccgc tgtcctagcc agctctcctc tgtctacacc gaaggctaaa
     3541 agctctcttg gccactcctg cacacccagg accttgatgt tgcttgccac cttttgtttt
     3601 cgtactctca cagactgctt gaggaaggat gtcagcccaa tcagcgggcc ctgcagagtt
     3661 actgatgttc tttcagaagg caggactgaa tggcagagct agctttgcag gaatcattac
     3721 agttgctcct ttttctctct ggttttcctg gactatgtga ccaggaggac tgtcttttca
     3781 aagggaattt agagcctcac tctcctggat acctgttact tcctggctgt caacccttaa
     3841 aggaccccag tgaaatgatg tgcatatgaa aatgtagttt ggggatgact ctacctgaaa
     3901 actccaaaca gggaaaaaga cctcaattac gagaggcata gtgacctgcc tcacctaatc
     3961 ctcacccttg ctgctcctga tgcaaagcca ggcacaacaa gggaaatcca tgtccaaagc
     4021 atagtgtggt ctcaactctt agaaactccc tgggtttccc ttttctctta gccacatgct
     4081 aaccagttgc ttctcagtgt ttctcttcaa tagaaaaata aggttttata tgccagcagc
     4141 ctatccttgt ttttgcattt taaagactta gttatttata cgtattttaa aatgaaaaaa
     4201 aaatgtaaag gtctgtgctt tggatggaaa tcattattat tgtaatcacc ccagctatag
     4261 acattttgca cagctgtggt tctgcctggc cccacctcta gcatgttagt tttgcagtta
     4321 gcaaaggtta cctgagggaa atggagtggg cacctcccgc accaacagtc ctgtagctgg
     4381 aaccttcctg agttgactgt ttagtaactc cacctcaaag actgtgttca aagaaaaatg
     4441 ttgtttgact ggtttaccca ttgcctccac tctggtgctg cacccagaga agtgccagat
     4501 gtgagaactg ggacagactg agtcatgtgc cagcttccct tggaaaacca aacctagtga
     4561 tacttgactt ccagtgctca gattttacta acgtttttca ggatatccac tcatctgtct
     4621 gtctcttccc tacacttctc tccaccctct ttttgcatcc ctcttaccct cttcctgact
     4681 gtggttcata tatccccacc agccgccatt gtctgatcat cttgggaagg tagaggtgac
     4741 agttctcgaa aagtctacag aaagaggcaa ttctttttct gagttccagt ttgaaggcct
     4801 ggaattttca catagcactt ggtcgaaaat atcaagccta aataggaagt cattttctgt
     4861 gacacctcta catagctatt acagatccta agtcctaggg catcagctat aaaaattggc
     4921 cagtcccaaa gacacagtaa gttctaacat tctggtacta tcatatttca agtatttttt
     4981 ctcacttttt aaaaatgttt ttctgaacaa aagtgaaaca atgccattta tcaaactgag
     5041 atcattacaa tcttcaacaa gacaactaaa acagcttgat gttagatggg attctgtgac
     5101 agtttgtata ctgacaggtc cttccagtct ccctccacag tcccacaagc ggaagtattc
     5161 tacctgattc cagagttcat tccaacatgc agtagaatga ggtgaatgaa gaaccaagtg
     5221 tgggttttgt tttcacagtg cacttggtca atctagtttc tctgagtagt gggctgtatt
     5281 ctaagaaaag ctttcacgta gacgtcaaag tctgcaaaag agatgagtta gccactttaa
     5341 aaaacctgct ctgctttaca aaagatgcac accaggcttc ctttacaagt gaactccaag
     5401 gctgcttgta aagtaccacc cttcctgcag actttgtggg tcgtgtcact tggcctaaac
     5461 aagtggccta acatatgcat gctcacagct agtagcatcc ctcatgcgtc ctttgtcata
     5521 ctctggaaag aaaaaaactc tgctatcttc agagaaacca tctattcata cttaaatatg
     5581 gaagccttta caaggaactc aaaatacatt tcatttcatt tgtacaatga gaaaaaagat
     5641 gaaaaggcaa ggttgttatt gcagttgaca ttgtcagccc tgccttttgg ctttatgtaa
     5701 tttaaaatag aaagggggaa ggaggacaag acagaagctc aactttagaa accatggaca
     5761 tcacctccct ctttgagagg agctgcttgt gaaccaggct ccagtcttcc tgtggcctct
     5821 cacagtaacc ctgccccttt cttacctcac aggggcaaga gggactctaa agagggcgta
     5881 agcaatagag gcacctgcag ccctccttcc tcagcaggaa atcaatgtgg agccccagag
     5941 ggacatttta tctcagagag agcatgctgg ccacaggacc cagtgcagcc ctgcttcccg
     6001 caccgtgggt ctttcctgat agctgcaggc ttgagattgc agcctcagga taggacacgt
     6061 tcagatgcct tccagactac acacactatg cttagattcg agagtctttc ctgaccttaa
     6121 aatttgtccc ttgcttactt tcacactgca gaagatttat atatatattc atcattattt
     6181 ttgcagcagt acaagtggaa acttcaaaaa aatcattccc tttcatgtcc tggtcttttt
     6241 aagtcttgat atgtaaccat tttcataaat gtccaaacag agattgtcat tccccttaaa
     6301 aacagaaaca aaacacaaaa ctagtgcttg tgaaaacaca cagcgcaaag acaattatcc
     6361 tattgcatta aaaaaaaaat cagtctgcct agagacattt cattggctgc attgtcttaa
     6421 ttccctaacg aaactgcatc aaaatgtcag ttgtaattta gcctctgatc agctgttaaa
     6481 tattatttaa atatttacag gtcctgtggg gtatctccca ttacccatgt cgccctcaaa
     6541 ttacataagc gatcataaaa taagaagaaa aaaaaaggtc tttagtagat cacagcagag
     6601 ttaccactga taagagtgtt ggctttgttc agttgtttct aaattaccag ccgtcaagca
     6661 cagtagcccc taaaaccaat tttgagcaag gataaattca actccctcat ctgagaacct
     6721 tgactttcca gttgccttga agtattggga atagtaactg tacattttca atttaattat
     6781 ttggtatttt atttgactgt cttggccatg tcattttatg gaagcatttt taaatagcac
     6841 tttttgttag tggtgtggaa tttctgcggt tattattttt tttttttttt gcaacagatg
     6901 aagcaaaaaa aaaaaagcac tcattggaga aatagtgagt gtaaaaagag atttattttg
     6961 tacagacagc aaagtatcct gtgtaatgtt gctgacataa agcactttgg gggaaaaaag
     7021 tggaaatctg ttttccataa atcacacaga ctcttgtaca tagttatata cactcacgta
     7081 gagaaatgaa ctgcatatat catactggat atggggccga ttttactcta gaggcacatc
     7141 tggtgcttat tgtcataaat cttttaaaga attaggtaca cttttttcta ttaatatgta
     7201 tagttttgtg atttgtcaca gttatgtttc atataatcat aagttatttt gtcttgttca
     7261 tgaagtcctt tttttatgtc aaaagtaaaa tgaagggatt gtgcacttgg tacagaataa
     7321 aactggaaat agagaagacg ccctcctgcc taaaatcctc cttcagcctg tcggtttaaa
     7381 acacaatggc aaccatcatt gtttgtttgt ttgttttttt gttttgtttt accatcagcc
     7441 tcttacatac tgggaatggt aattataatt aaaggcagat gatgcgggag ggaatgttca
     7501 agtccagctt taaaatgctg cattgctttg ggccagagct gtagcctgga tttaattata
     7561 gatatgagga ggaaatggca gtaaaaatga atgtctccct gagtccttta catgttggga
     7621 gtgtccataa ataaaacatg aagttttatt tcatcagatt taattaaagc ttttatacat
     7681 gttt
//
LOCUS       NM_001042416            2803 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 596 (ZNF596), transcript variant 1,
            mRNA.
ACCESSION   NM_001042416
VERSION     NM_001042416.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2803)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2803)
  AUTHORS   Chi C, Shao X, Rhead B, Gonzales E, Smith JB, Xiang AH, Graves J,
            Waldman A, Lotze T, Schreiner T, Weinstock-Guttman B, Aaen G,
            Tillema JM, Ness J, Candee M, Krupp L, Gorman M, Benson L, Chitnis
            T, Mar S, Belman A, Casper TC, Rose J, Moodley M, Rensel M,
            Rodriguez M, Greenberg B, Kahn L, Rubin J, Schaefer C, Waubant E,
            Langer-Gould A and Barcellos LF.
  TITLE     Admixture mapping reveals evidence of differential multiple
            sclerosis risk by genetic ancestry
  JOURNAL   PLoS Genet 15 (1), e1007808 (2019)
   PUBMED   30653506
  REMARK    GeneRIF: a genome-wide search of association between European
            ancestry and Multiple sclerosis (MS) revealed a region of interest
            close to the ZNF596 gene on chromosome 8 in Hispanics; cases had a
            significantly higher proportion of European ancestry compared to
            controls. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2803)
  AUTHORS   Nusbaum C, Mikkelsen TS, Zody MC, Asakawa S, Taudien S, Garber M,
            Kodira CD, Schueler MG, Shimizu A, Whittaker CA, Chang JL, Cuomo CA,
            Dewar K, FitzGerald MG, Yang X, Allen NR, Anderson S, Asakawa T,
            Blechschmidt K, Bloom T, Borowsky ML, Butler J, Cook A, Corum B,
            DeArellano K, DeCaprio D, Dooley KT, Dorris L 3rd, Engels R,
            Glockner G, Hafez N, Hagopian DS, Hall JL, Ishikawa SK, Jaffe DB,
            Kamat A, Kudoh J, Lehmann R, Lokitsang T, Macdonald P, Major JE,
            Matthews CD, Mauceli E, Menzel U, Mihalev AH, Minoshima S, Murayama
            Y, Naylor JW, Nicol R, Nguyen C, O'Leary SB, O'Neill K, Parker SC,
            Polley A, Raymond CK, Reichwald K, Rodriguez J, Sasaki T, Schilhabel
            M, Siddiqui R, Smith CL, Sneddon TP, Talamas JA, Tenzin P, Topham K,
            Venkataraman V, Wen G, Yamazaki S, Young SK, Zeng Q, Zimmer AR,
            Rosenthal A, Birren BW, Platzer M, Shimizu N and Lander ES.
  TITLE     DNA sequence and analysis of human chromosome 8
  JOURNAL   Nature 439 (7074), 331-335 (2006)
   PUBMED   16421571
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.9323.1,
            SRR1660809.150083.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142348,
            SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000398612.3/ ENSP00000381613.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA714658.1, AK313454.1, BC026190.1, AC004908.1 and DB514599.1.
            On Nov 23, 2018 this sequence version replaced NM_001042416.2.
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 through 6 encode the same isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2803
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.3"
     gene            1..2803
                     /gene="ZNF596"
                     /note="zinc finger protein 596"
                     /db_xref="GeneID:169270"
                     /db_xref="HGNC:HGNC:27268"
     misc_feature    300..302
                     /gene="ZNF596"
                     /note="upstream in-frame stop codon"
     CDS             312..1826
                     /gene="ZNF596"
                     /EC_number="2.1.1.354"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="zinc finger protein 596 isoform 1"
                     /protein_id="NP_001035881.1"
                     /db_xref="CCDS:CCDS5951.2"
                     /db_xref="GeneID:169270"
                     /db_xref="HGNC:HGNC:27268"
                     /translation="MPSPDSMTFEDIIVDFTQEEWALLDTSQRKLFQDVMLENISHLVS
                     IGKQLCKSVVLSQLEQVEKLSTQRISLLQGREVGIKHQEIPFIQHIYQKGTSTISTMRS
                     HTQEDPFLCNDLGEDFTQHIALTQNVITYMRTKHFVSKKFGKIFSDWLSFNQHKEIHTK
                     CKSYGSHLFDYAFIQNSALRPHSVTHTREITLECRVCGKTFSKNSNLRRHEMIHTGEKP
                     HGCHLCGKAFTHCSDLRKHERTHTGEKPYGCHLCGKAFSKSSNLRRHEMIHTREKAQIC
                     HLCGKAFTHCSDLRKHERTHLGDKPYGCLLCGKAFSKCSYLRQHERTHNGEKPYECHLC
                     GKAFSHCSHLRQHERSHNGEKPHGCHLCGKAFTESSVLKRHERIHTGEKPYECHVCGKA
                     FTESSDLRRHERTHTGEKPYECHLCGKAFNHSSVLRRHERTHTGEKPYECNICGKAFNR
                     SYNFRLHRRVHTGEKPYVCPLCGKAFSKFFNLRQHERTHTKKAMNM"
     regulatory      2087..2092
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF596"
                     /note="hexamer: AATAAA"
     polyA_site      2115
                     /gene="ZNF596"
                     /note="major polyA site"
     regulatory      2685..2690
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF596"
                     /note="hexamer: AATAAA"
     polyA_site      2706
                     /gene="ZNF596"
     regulatory      2780..2785
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF596"
                     /note="hexamer: ATTAAA"
     polyA_site      2803
                     /gene="ZNF596"
ORIGIN
        1 agttcccttc ctgcggcgtc ctccacaccc ggggtctgct ggtctccgcg gatgtcacag
       61 gctcggcaac cgccctcctg tcggcgggga gtcccgcgac gcccggaaat gctccgaagc
      121 ctgtcgccca gctgccagat ctgcgtctgt gtccggttcc gtcactgagg tcgcccctgt
      181 ccggcccttc caccctagtt ctcttcaccg tccgcccatc ctatcgcgcg cggcctcaga
      241 tttgtcttct tagtgcttgg atggtgtgag tgaaaaccca gaggaataca tttggtggct
      301 gagctagtac aatgccatca ccggattcca tgaccttcga ggatatcatt gtagacttca
      361 ctcaagaaga gtgggccctg ctggacacat cccagagaaa gctgtttcaa gatgtgatgt
      421 tggagaacat cagtcatctg gtctctattg gcaaacagct ctgcaaatca gttgtgcttt
      481 cccaattgga gcaagtagag aaactttcaa cacaaagaat aagcttactg caaggtagag
      541 aagttggcat taaacatcaa gagataccat tcattcaaca tatctatcag aagggcacgt
      601 ccaccatcag cacaatgaga tctcatactc aagaggatcc ttttctatgc aatgacttag
      661 gagaagattt cactcaacat atagcattga ctcaaaatgt gattacctac atgagaacga
      721 aacactttgt aagcaaaaag tttgggaaaa tcttcagtga ctggttatcc tttaatcaac
      781 acaaggaaat tcacaccaaa tgtaaatcat atggaagtca tctatttgat tatgccttta
      841 tccaaaactc tgcccttaga ccacacagtg tgactcacac tagagagata acattggaat
      901 gtcgtgtgtg tgggaaaacc tttagcaaaa attctaatct taggcgacat gagatgattc
      961 acactggaga gaaaccacac ggatgtcatc tatgtgggaa agcctttact cattgctctg
     1021 atcttcgaaa acatgagaga actcacactg gagagaagcc atatggatgt catctatgtg
     1081 ggaaagcctt cagtaaaagt tctaacctta gacgacatga gatgattcac actagagaaa
     1141 aagcacagat atgccatcta tgtgggaaag ccttcactca ttgctctgac cttagaaaac
     1201 atgagagaac tcacttagga gataaaccat atggatgtct cctatgtggg aaggctttca
     1261 gtaaatgttc ttaccttaga caacatgaaa gaactcacaa tggagagaaa ccatatgaat
     1321 gtcatctatg tggaaaagcc ttctctcatt gttctcacct tagacaacat gagcgaagtc
     1381 acaatggaga gaaaccacat ggatgtcatc tatgtgggaa agcattcact gaatcttctg
     1441 tgcttaaacg acatgagaga attcacactg gagagaaacc atatgagtgc catgtatgtg
     1501 ggaaagcctt cactgaatct tctgacctca gacgacatga gagaactcac actggagaaa
     1561 aaccatatga atgccatcta tgcggaaaag ccttcaatca ctcttctgtc cttagacgac
     1621 atgagagaac tcacactgga gagaaaccat atgaatgcaa tatatgtggt aaagccttca
     1681 atagaagtta caactttaga cttcatagaa gagttcacac tggagagaaa ccatatgtat
     1741 gtcctctatg tgggaaagcc tttagtaaat tttttaacct tagacaacat gagagaactc
     1801 acactaaaaa agcaatgaat atgtaagaat catcagctgt agcgttaaca ctaaatacac
     1861 caaggacaaa catactacag gaatattatg tctgtaatca gtgtggaaaa gcctttattt
     1921 atatttacca ctttgctcaa cctaaatgaa ttcaaggtag agagaatcca gatgtattta
     1981 atgtttatgg cacaaacttc agactctagg ctgaccatat acaacgtgag agaatgaaac
     2041 tatagatcaa aggaatgtgg aggagtcttc atccacagct ctgttaaata aatgggagaa
     2101 atcacatcac gaaaattctg tgcctgtcgt cagtgtgaaa atgcctttgc tgataattta
     2161 tcctctaaac aaatgagtaa aatccacagg caagcaacca tatgtctgta attgctgtgc
     2221 actctcattc agctaagcac caattttggt gtgtgcaaga aaattcatta taaggtaact
     2281 gataaaaaca ggaaatatgt gaaaatattt tttattaggt ggatgaggcc tcttgaacaa
     2341 ttccagacat tcatagtgga gaagttattc aatgaaaact catgagaaat ccttttctta
     2401 atacagcagc acttctataa tagatcagaa ttcacatggt gtagaactct caatgacatg
     2461 aatggagggt agtcctcagt aaattactca ttccttagtc aataccagca tttttccagt
     2521 gagaaaacta tcttgacagg atagtggaaa aaccttcagg cagcttttat gtcaaaaaag
     2581 tgagacaggg atgaaaactc taaaaagcca ttgatgagat gtatagctgg gggacaaaac
     2641 ataaagccat caagcacgtg cttgagaaaa aaattataat tttgaataaa gactttctac
     2701 ttaaaatatg tgggttgaaa tgtacaattc tgaaataacc tgggaatatt gaatgcagaa
     2761 ttatgtaaga agtaataaga ttaaattagt actgtcaaaa ata
//
LOCUS       NM_001042424            7560 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens nuclear receptor binding SET domain protein 2 (NSD2),
            transcript variant 10, mRNA.
ACCESSION   NM_001042424
VERSION     NM_001042424.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7560)
  AUTHORS   Khella MS, Schnee P, Weirich S, Bui T, Brohm A, Bashtrykov P, Pleiss
            J and Jeltsch A.
  TITLE     The T1150A cancer mutant of the protein lysine dimethyltransferase
            NSD2 can introduce H3K36 trimethylation
  JOURNAL   J Biol Chem 299 (6), 104796 (2023)
   PUBMED   37150325
  REMARK    GeneRIF: The T1150A cancer mutant of the protein lysine
            dimethyltransferase NSD2 can introduce H3K36 trimethylation.
REFERENCE   2  (bases 1 to 7560)
  AUTHORS   Yan J, Zhang MY, Lin J, Li KX, Zhao ZM, Gao YM, Deng XL, Wang CS and
            Wang HS.
  TITLE     WHSC1 is involved in DNA damage, cellular senescence and immune
            response in hepatocellular carcinoma progression
  JOURNAL   J Cell Mol Med 27 (10), 1436-1441 (2023)
   PUBMED   37073435
  REMARK    GeneRIF: WHSC1 is involved in DNA damage, cellular senescence and
            immune response in hepatocellular carcinoma progression.
REFERENCE   3  (bases 1 to 7560)
  AUTHORS   Narang S, Evensen NA, Saliba J, Pierro J, Loh ML, Brown PA, Kolekar
            P, Mulder H, Shao Y, Easton J, Ma X, Tsirigos A and Carroll WL.
  TITLE     NSD2 E1099K drives relapse in pediatric acute lymphoblastic leukemia
            by disrupting 3D chromatin organization
  JOURNAL   Genome Biol 24 (1), 64 (2023)
   PUBMED   37016431
  REMARK    GeneRIF: NSD2 E1099K drives relapse in pediatric acute lymphoblastic
            leukemia by disrupting 3D chromatin organization. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 7560)
  AUTHORS   Stong N, Ortiz-Estevez M, Towfic F, Samur M, Agarwal A, Corre J,
            Flynt E, Munshi N, Avet-Loiseau H and Thakurta A.
  TITLE     The location of the t(4;14) translocation breakpoint within the NSD2
            gene identifies a subset of patients with high-risk NDMM
  JOURNAL   Blood 141 (13), 1574-1583 (2023)
   PUBMED   35984902
  REMARK    GeneRIF: The location of the t(4;14) translocation breakpoint within
            the NSD2 gene identifies a subset of patients with high-risk NDMM.
REFERENCE   5  (bases 1 to 7560)
  AUTHORS   Popp B, Brugger M, Poschmann S, Bartolomaeus T, Radtke M, Hentschel
            J, Di Donato N, Rump A, Gburek-Augustat J, Graf E, Wagner M, Sorge
            I, Lemke JR, Meitinger T, Abou Jamra R, Strehlow V and Brunet T.
  TITLE     The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is
            associated with a novel syndrome
  JOURNAL   Clin Genet 103 (2), 226-230 (2023)
   PUBMED   36189577
  REMARK    GeneRIF: The constitutional gain-of-function variant p.Glu1099Lys in
            NSD2 is associated with a novel syndrome.
REFERENCE   6  (bases 1 to 7560)
  AUTHORS   Stec I, Wright TJ, van Ommen GJ, de Boer PA, van Haeringen A,
            Moorman AF, Altherr MR and den Dunnen JT.
  TITLE     WHSC1, a 90 kb SET domain-containing gene, expressed in early
            development and homologous to a Drosophila dysmorphy gene maps in
            the Wolf-Hirschhorn syndrome critical region and is fused to IgH in
            t(4;14) multiple myeloma
  JOURNAL   Hum Mol Genet 7 (7), 1071-1082 (1998)
   PUBMED   9618163
  REMARK    Erratum:[Hum Mol Genet 1998 Sep;7(9):1527]
REFERENCE   7  (bases 1 to 7560)
  AUTHORS   Richelda R, Ronchetti D, Baldini L, Cro L, Viggiano L, Marzella R,
            Rocchi M, Otsuki T, Lombardi L, Maiolo AT and Neri A.
  TITLE     A novel chromosomal translocation t(4; 14)(p16.3; q32) in multiple
            myeloma involves the fibroblast growth-factor receptor 3 gene
  JOURNAL   Blood 90 (10), 4062-4070 (1997)
   PUBMED   9354676
REFERENCE   8  (bases 1 to 7560)
  AUTHORS   Chesi M, Nardini E, Brents LA, Schrock E, Ried T, Kuehl WM and
            Bergsagel PL.
  TITLE     Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is
            associated with increased expression and activating mutations of
            fibroblast growth factor receptor 3
  JOURNAL   Nat Genet 16 (3), 260-264 (1997)
   PUBMED   9207791
REFERENCE   9  (bases 1 to 7560)
  AUTHORS   Wright TJ, Ricke DO, Denison K, Abmayr S, Cotter PD, Hirschhorn K,
            Keinanen M, McDonald-McGinn D, Somer M, Spinner N, Yang-Feng T,
            Zackai E and Altherr MR.
  TITLE     A transcript map of the newly defined 165 kb Wolf-Hirschhorn
            syndrome critical region
  JOURNAL   Hum Mol Genet 6 (2), 317-324 (1997)
   PUBMED   9063753
REFERENCE   10  (bases 1 to 7560)
  AUTHORS   Battaglia,A., Carey,J.C. and South,S.T.
  TITLE     Wolf-Hirschhorn Syndrome - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301362
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3427661.1,
            SRR11853563.24873.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000508803.6/ ENSP00000423972.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC105448.5, CX866583.1,
            BC032731.3, BC094825.1, AF071593.1 and BM982021.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001042424.2.
            Summary: This gene encodes a protein that contains four domains
            present in other developmental proteins: a PWWP domain, an HMG box,
            a SET domain, and a PHD-type zinc finger. It is expressed
            ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS)
            is a malformation syndrome associated with a hemizygous deletion of
            the distal short arm of chromosome 4. This gene maps to the 165 kb
            WHS critical region and has also been involved in the chromosomal
            translocation t(4;14)(p16.3;q32.3) in multiple myelomas.
            Alternative splicing of this gene results in multiple transcript
            variants encoding different isoforms. Some transcript variants are
            nonsense-mediated mRNA (NMD) decay candidates, hence not
            represented as reference sequences. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (10) contains a novel 5'
            non-coding exon compared to transcript variant 1, hence has a
            different 5' UTR. However, it encodes the same isoform (1) as
            transcript variants 1, 2 and 3.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7560
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..7560
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="nuclear receptor binding SET domain protein 2"
                     /db_xref="GeneID:7468"
                     /db_xref="HGNC:HGNC:12766"
                     /db_xref="MIM:602952"
     misc_feature    156..158
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="upstream in-frame stop codon"
     CDS             180..4277
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /EC_number="2.1.1.357"
                     /note="isoform 1 is encoded by transcript variant 10;
                     trithorax/ash1-related protein 5; probable histone-lysine
                     N-methyltransferase NSD2; IL5 promoter REII region-binding
                     protein; multiple myeloma SET domain containing protein
                     type III; nuclear SET domain-containing protein 2;
                     Wolf-Hirschhorn syndrome candidate 1"
                     /codon_start=1
                     /product="histone-lysine N-methyltransferase NSD2 isoform
                     1"
                     /protein_id="NP_001035889.1"
                     /db_xref="CCDS:CCDS33940.1"
                     /db_xref="GeneID:7468"
                     /db_xref="HGNC:HGNC:12766"
                     /db_xref="MIM:602952"
                     /translation="MEFSIKQSPLSVQSVVKCIKMKQAPEILGSANGKTPSCEVNRECS
                     VFLSKAQLSSSLQEGVMQKFNGHDALPFIPADKLKDLTSRVFNGEPGAHDAKLRFESQE
                     MKGIGTPPNTTPIKNGSPEIKLKITKTYMNGKPLFESSICGDSAADVSQSEENGQKPEN
                     KARRNRKRSIKYDSLLEQGLVEAALVSKISSPSDKKIPAKKESCPNTGRDKDHLLKYNV
                     GDLVWSKVSGYPWWPCMVSADPLLHSYTKLKGQKKSARQYHVQFFGDAPERAWIFEKSL
                     VAFEGEGQFEKLCQESAKQAPTKAEKIKLLKPISGKLRAQWEMGIVQAEEAASMSVEER
                     KAKFTFLYVGDQLHLNPQVAKEAGIAAESLGEMAESSGVSEEAAENPKSVREECIPMKR
                     RRRAKLCSSAETLESHPDIGKSTPQKTAEADPRRGVGSPPGRKKTTVSMPRSRKGDAAS
                     QFLVFCQKHRDEVVAEHPDASGEEIEELLRSQWSLLSEKQRARYNTKFALVAPVQAEED
                     SGNVNGKKRNHTKRIQDPTEDAEAEDTPRKRLRTDKHSLRKRDTITDKTARTSSYKAME
                     AASSLKSQAATKNLSDACKPLKKRNRASTAASSALGFSKSSSPSASLTENEVSDSPGDE
                     PSESPYESADETQTEVSVSSKKSERGVTAKKEYVCQLCEKPGSLLLCEGPCCGAFHLAC
                     LGLSRRPEGRFTCSECASGIHSCFVCKESKTDVKRCVVTQCGKFYHEACVKKYPLTVFE
                     SRGFRCPLHSCVSCHASNPSNPRPSKGKMMRCVRCPVAYHSGDACLAAGCSVIASNSII
                     CTAHFTARKGKRHHAHVNVSWCFVCSKGGSLLCCESCPAAFHPDCLNIEMPDGSWFCND
                     CRAGKKLHFQDIIWVKLGNYRWWPAEVCHPKNVPPNIQKMKHEIGEFPVFFFGSKDYYW
                     THQARVFPYMEGDRGSRYQGVRGIGRVFKNALQEAEARFREIKLQREARETQESERKPP
                     PYKHIKVNKPYGKVQIYTADISEIPKCNCKPTDENPCGFDSECLNRMLMFECHPQVCPA
                     GEFCQNQCFTKRQYPETKIIKTDGKGWGLVAKRDIRKGEFVNEYVGELIDEEECMARIK
                     HAHENDITHFYMLTIDKDRIIDAGPKGNYSRFMNHSCQPNCETLKWTVNGDTRVGLFAV
                     CDIPAGTELTFNYNLDCLGNEKTVCRCGASNCSGFLGDRPKTSTTLSSEEKGKKTKKKT
                     RRRRAKGEGKRQSEDECFRCGDGGQLVLCDRKFCTKAYHLSCLGLGKRPFGKWECPWHH
                     CDVCGKPSTSFCHLCPNSFCKEHQDGTAFSCTPDGRSYCCEHDLGAASVRSTKTEKPPP
                     EPGKPKGKRRRRRGWRRVTEGK"
     misc_feature    507..509
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O96028.1); phosphorylation site"
     misc_feature    519..521
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (O96028.1); phosphorylation site"
     misc_feature    540..542
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O96028.1);
                     phosphorylation site"
     misc_feature    624..689
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="propagated from UniProtKB/Swiss-Prot (O96028.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    693..695
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O96028.1); phosphorylation site"
     misc_feature    1305..1544
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="propagated from UniProtKB/Swiss-Prot (O96028.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1305..1307
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (O96028.1); phosphorylation site"
     misc_feature    1443..1445
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O96028.1); phosphorylation site"
     misc_feature    1725..2153
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="propagated from UniProtKB/Swiss-Prot (O96028.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1809..1811
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (O96028.1);
                     phosphorylation site"
     misc_feature    2019..2021
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O96028.1); phosphorylation site"
     misc_feature    3798..3875
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="propagated from UniProtKB/Swiss-Prot (O96028.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4176..4274
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="propagated from UniProtKB/Swiss-Prot (O96028.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      5132..5137
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="hexamer: AATATA"
     polyA_site      5164
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="major polyA site"
     regulatory      7541..7546
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="hexamer: ATTAAA"
     polyA_site      7560
                     /gene="NSD2"
                     /gene_synonym="KMT3F; KMT3G; MMSET; RAUST; REIIBP; TRX5;
                     WHS; WHSC1"
                     /note="major polyA site"
ORIGIN
        1 ggcgccgcgc gcgagagcct cggcctggcc gcgctgcgcc cgccgccgcc gccgccccct
       61 ccccgcctgg gccctaccgc cgcacggccc cggccccctc ccagcctgcc gctccggaga
      121 gccgcccgcc gaggatgcga cgcaccgcag tgttctaaga acggaagcat ctgggctgga
      181 tggaatttag catcaagcag agtccccttt ctgttcagag tgttgtaaag tgcataaaga
      241 tgaagcaggc accagaaatc ctcggcagtg ccaacgggaa gactccgagc tgcgaggtga
      301 accgcgagtg ttctgtgttc ctcagcaaag cccagctctc cagtagcctg caggaggggg
      361 tcatgcagaa gtttaacggc cacgacgccc tgccctttat tccagccgac aagctgaaag
      421 atcttacttc ccgggtgttt aatggagaac ccggcgcaca cgatgccaaa ctgcgttttg
      481 agtcccagga aatgaaaggg attgggacac cccctaacac tacccctatc aaaaatggct
      541 ctccagaaat taagctgaaa atcaccaaaa catacatgaa tgggaagcct ctctttgaat
      601 cttccatttg tggtgacagt gctgctgatg tgtctcagtc agaagaaaat ggacaaaaac
      661 cagaaaacaa ggcgagaagg aacaggaaga ggagcataaa atatgactcc ttgctggagc
      721 agggccttgt cgaagcagct cttgtgtcta agatctcaag tccttcagat aaaaagattc
      781 cagctaagaa agagtcttgt ccaaacactg gaagagacaa agaccacctg ttgaaataca
      841 acgttggtga tttggtgtgg tccaaagtgt cgggttaccc ttggtggcct tgcatggttt
      901 ctgcagatcc actccttcac agctatacca aacttaaagg tcagaaaaag agtgcacgcc
      961 agtatcacgt acagttcttt ggtgacgccc cagaaagagc ttggatattt gagaagagcc
     1021 tcgtagcttt tgaaggagaa ggacagtttg aaaaattatg ccaggaaagt gccaagcagg
     1081 cacccacgaa agctgagaaa attaagctat tgaaaccaat ttcagggaaa ttgagggccc
     1141 agtgggaaat gggcattgtt caagcagaag aagctgcaag catgtcagtg gaggagcgga
     1201 aagccaagtt cacctttctc tatgtggggg accagcttca tctcaaccct caagtagcca
     1261 aggaggctgg cattgctgca gagtctttgg gagaaatggc agaatcctca ggagtcagtg
     1321 aagaagctgc tgaaaacccc aagtctgtga gagaagagtg cattcccatg aagagaaggc
     1381 ggagggccaa actgtgtagc tctgcagaga ccctggagag tcaccccgac atagggaaga
     1441 gtactcctca aaagacggca gaggctgacc ccagaagagg agtagggtct cctcctggga
     1501 ggaagaagac cacagtctcc atgccacgaa gcaggaaggg agatgcagca tcccagtttt
     1561 tggtcttctg tcaaaaacac agggatgagg tggtagctga gcacccagat gcttcaggtg
     1621 aggagattga agagctgctc aggtcacagt ggagtctgct gagtgagaag cagagagcac
     1681 gctacaacac caagtttgcc ctggtggccc ctgtccaggc tgaagaagac tctggtaatg
     1741 taaatgggaa aaaaagaaac cacacaaaga ggatacagga ccctacagaa gatgctgaag
     1801 ctgaggacac acccaggaaa agactcagga cggacaagca cagtcttcgg aagagagaca
     1861 caatcactga caaaacggcc agaacaagct cttacaaggc catggaggca gcctcctcgc
     1921 tcaagagcca ggcagcaacg aaaaatctgt ctgatgcatg taaaccactg aagaagcgaa
     1981 atcgggcttc cacggcagca tcttcagctc ttgggtttag caaaagttca tctccttctg
     2041 catccttaac tgagaatgag gtctcggaca gcccgggaga cgagccctcg gagtccccat
     2101 acgaaagtgc agacgaaaca caaactgaag tatctgtctc atccaaaaag tctgagcgag
     2161 gagtgactgc caaaaaggag tatgtgtgcc agctgtgtga gaagccgggc agcctcctgc
     2221 tctgtgaagg accctgctgc ggagctttcc acctcgcctg ccttgggctt tcccggaggc
     2281 cagaagggag gttcacctgc agcgagtgtg cctcagggat tcactcatgt ttcgtgtgta
     2341 aagagagcaa gacagatgtt aagcgctgtg tggtaactca gtgtggaaaa ttttaccatg
     2401 aggcttgtgt gaaaaaatac cctctgactg tatttgagag ccgaggtttc cgctgccccc
     2461 tccacagctg tgtgagctgc catgcttcca acccttcaaa cccaaggccg tcaaaaggta
     2521 aaatgatgcg gtgtgtccgc tgccccgttg cctatcacag cggggatgct tgtctggcag
     2581 caggatgctc agtgatcgcc tccaacagca tcatctgcac tgcccacttc actgctcgga
     2641 aggggaagcg acaccacgcc cacgtcaacg tgagctggtg cttcgtgtgc tccaaagggg
     2701 ggagccttct gtgctgtgag tcctgcccag cggccttcca ccctgactgc ctgaacatcg
     2761 agatgcctga cggcagctgg ttctgcaatg actgcagggc tgggaagaag ctgcacttcc
     2821 aggatatcat ttgggtgaaa cttgggaact acagatggtg gccggcagaa gtttgccatc
     2881 ccaaaaatgt tcccccaaat attcagaaaa tgaagcacga gattggagaa ttccctgtgt
     2941 ttttctttgg gtctaaagat tattactgga cgcatcaggc gcgagtgttc ccgtacatgg
     3001 agggggaccg gggcagccgc taccaggggg tcagagggat cggaagagtc ttcaaaaacg
     3061 cactgcaaga agctgaagct cgttttcgtg aaattaagct tcagagggaa gcccgagaaa
     3121 cacaggagag cgagcgcaag cccccaccat acaagcacat caaggtgaat aagccttacg
     3181 ggaaagtcca gatctacaca gcggatattt cagaaatccc taagtgcaac tgcaagccca
     3241 cagatgagaa tccttgtggc tttgattcgg agtgtctgaa caggatgctg atgtttgagt
     3301 gccacccgca ggtgtgtccc gcgggcgagt tctgccagaa ccagtgcttc accaagcgcc
     3361 agtacccaga gaccaagatc atcaagacag atggcaaagg gtggggcctg gtcgccaaga
     3421 gggacatcag aaagggagaa tttgttaacg agtacgttgg ggagctgatc gacgaggagg
     3481 agtgcatggc gagaatcaag cacgcacacg agaacgacat cacccacttc tacatgctca
     3541 ctatagacaa ggaccgtata atagacgctg gccccaaagg aaactactct cgatttatga
     3601 atcacagctg ccagcccaac tgtgagaccc tcaagtggac agtgaatggg gacactcgtg
     3661 tgggcctgtt tgccgtctgt gacattcctg cagggacgga gctgactttt aactacaacc
     3721 tcgattgtct gggcaatgaa aaaacggtct gccggtgtgg agcctccaat tgcagtggat
     3781 tcctcgggga tagaccaaag acctcgacga ccctttcatc agaggaaaag ggcaaaaaga
     3841 ccaagaagaa aacgaggcgg cgcagagcaa aaggggaagg gaagaggcag tcagaggacg
     3901 agtgcttccg ctgcggtgat ggcgggcagc tggtgctgtg tgaccgcaag ttctgcacca
     3961 aggcctacca cctgtcctgc ctgggccttg gcaagcggcc cttcgggaag tgggaatgtc
     4021 cttggcatca ttgtgacgtg tgtggcaaac cttcgacttc attttgccac ctctgcccca
     4081 attcgttctg taaggagcac caggacggga cagccttcag ctgcaccccg gacgggcggt
     4141 cctactgctg tgagcatgac ttaggggcgg catcggtcag aagcaccaag actgagaagc
     4201 cccccccaga gccagggaag ccgaagggga agaggcggcg gcggaggggc tggcggagag
     4261 tcacagaggg caaatagcgc caggcggccg cttggccgga tccaggggcg gtgcagggcg
     4321 gccggccctg cctgcgggag agggcgagca tgaactggcc cggaggaccc agctcgagcc
     4381 gccaggacac agacgtacag gcctcctcgg gagggagcgc ctccccacca ctgagccatc
     4441 ctcagcagcg tccgctgcgt ctgcactgat gaccgtctga gcccagctca gcgttcctgg
     4501 acaaacagcc tcactcctca gcgttaccgc cacacttgaa tttctccgaa tgtcaaggtt
     4561 ccctcccact ctattttttt aggttaaagt taattggcat atggaatgtt ttaatctcct
     4621 ctgaaatgtg tagcgtaggc ttttcccaag ggtcgctaga aactcgtctt cgcgttgccc
     4681 cctttctggc tctcagcgcc gtcgccactc gggagaggct gggtgaggcc cgtgtgagga
     4741 ctgaccctgg attcctcgaa actgccattg tgatcattac tctgctcttt ggaaatggct
     4801 gtatcatttt tttgtactaa tgtgaattgt tcctcagaaa cgcttctttt ccatcctagt
     4861 gagaagctgg ccctgcaggt ggtggcagca atggtgttgt aagatttcct cccgtagttt
     4921 tttctcctca tggatttgaa tgaaatgcca ataacacgtc cactttcaac gtgtagttta
     4981 cgcggagcac tttcgaggcc tggccgggtt gggcctactt ctcacctggg cctatcttct
     5041 gaactcgcta ggttcttatc aacatttggg ggataacttt gtatattttt ttcatttggc
     5101 ttttctttac cagtttctga tttttattct caatatattt ttgctaaacc tatttcacaa
     5161 atcaccaccg actgaagtgt gtgtttactg atgcggccct gagctccatg gcgaaaggag
     5221 tgactttgca gggcgtgaga ccgcagtctg cttagagcac aggaagtgac aacttaggga
     5281 gccccgtagg gcgctgcagg ccccggggac cccagcacgt gggtctaaag agagacggag
     5341 tctagctctc ctgccaccca gagtggcttc catctcagca ctctgtgggt ctggtgatgg
     5401 aagatgcagt ctctgctgat cacatgtgcc ctctgccagg gcacctactg agaggtgcgg
     5461 tcctgggggt ggaggcctgc ctggcaggtg tgcgtgcctc gtacgtgtgt tatgggcact
     5521 ggtctaggcc aggtatgaca cccactctcc tgtgagattt cactttagtt tttaaaaggt
     5581 ccagttctac agagtgagac ctatctatct gagtactaca tatgttttaa gacttggttc
     5641 tttttttgag ggatccttga ccctgggaag tctggagcac cctgagaagg gggcaccatg
     5701 tgtgcctttg cccacgtgtc ctgaggggct gcttgtctgg gagggaggga gagaacattc
     5761 agcagcaggt gcttttttat ggccttttct taaaataacc taagggggac acatccatct
     5821 tgcagagaag tttacagaac tccccttgaa aactgctgct gaggctcctg ttaaattttc
     5881 tgtggcatct tttatgcctt ggtaaaaact gcagtgtctt tggacctgag agtggctact
     5941 ccgtggtttt gtgacctgta agcgtggggt tcaggggtgt gtggccctgc agggtcccac
     6001 gcctccctga gcactgactg gaagtttcac tggctggtgg ctgtcccttc tcccatcagg
     6061 gtccccagca aagttaacta cacagaggac ccaggggaaa cgagctgtgt agccactgac
     6121 ttgctcgcgc ggccgtggcc tctgaggggc actcgccggt taagacaggg tgggagtagt
     6181 gctttccagt tcagactcta acttctccca aagtgtccta agaaaatact ggatcggctc
     6241 atagatttat gctccttatg atgccctaac ttggaaggtt gttctaggga caggccgggc
     6301 agtgtcccca cacacacctt agagtcgaag gccccagggc cccgctgtca cttgcccaaa
     6361 agatcccttc cggcaggtaa gggactacca atgcttacgt caaaacagca gaatcggctt
     6421 tgcagtgcac tttggggagc agatattaac ttatttttgt gttggacagt agtgaaatct
     6481 tgtgattttt aatcgctttg ataatacttc caaattttat gatttttctg aaggaaataa
     6541 tgcaaacatt ttaaatatgt ttctccccct ttccaaaaac tgttaaacta atgagcaagt
     6601 aacactaact ttgaatgtct ctacaatacc cgttgataac tcagtggagc caggctttgg
     6661 ggtagcggcc ctgagcttgc agggtttctc gccactgggg ctgaccacgc ccccagctgt
     6721 gaccgtgggt gtggctggct ctcggccctg cccagctttg ttctgaggac gtggtgactt
     6781 cctgaacatc agcttcaatc ctccatcatt aatgtgaagc aaaacacaaa aaccgcccca
     6841 atccctcagg attccttggc atccgaaacc agcatctgca cctaaaccca tacccacccg
     6901 tgtgcgccca cagggggatg tgtccgaatg ggcagcttaa aatgtggtca cctgtggggg
     6961 aaactcttca ggcacctgaa gtgagaaccc agctgtccgt cctcaggccg gcctttcttc
     7021 cggcgacacc cgtccatggc tggctgggtc cccttcgcag tgtttgtctg tcttgacatc
     7081 taaaccccgg cgtgtgcagt gcccatcttc caggactacc ttattttcca gaattaaacc
     7141 tgttttataa ttcaagttaa tgcaaatgac tgtcagttgc caaatatctt gatcctatga
     7201 gtgtagttga tgactgtttg ttagtcagta gagtaaaatg ctgtgtccac ggggtgtcac
     7261 agcctcacca taccctgttg aggtgtgaaa tgccccgtca gaaattaaat acaaacttaa
     7321 atgtgcctat tggtgtctaa acttcataca atgtaaggtc agattccttt taggaatact
     7381 gggtgctgtc accaggtttg atagttagac ttaaaaactt gaaattcact ttttgggggg
     7441 agggatatac tgaaatagag agttgagact tgccagttgg gggaaaatag catttaaaat
     7501 ggaaagctgt gtttggaaaa ttgtgtatga gtatttttgt attaaaaaca ttttaaaggc
//
LOCUS       NM_001042427            3259 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens chromosome 10 open reading frame 53 (C10orf53),
            transcript variant 2, mRNA.
ACCESSION   NM_001042427
VERSION     NM_001042427.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3259)
  AUTHORS   Rose JE, Behm FM, Drgon T, Johnson C and Uhl GR.
  TITLE     Personalized smoking cessation: interactions between nicotine dose,
            dependence and quit-success genotype score
  JOURNAL   Mol Med 16 (7-8), 247-253 (2010)
   PUBMED   20379614
  REMARK    GeneRIF: Clinical trial of gene-disease association and
            gene-environment interaction. (HuGE Navigator) Erratum:[Mol Med.
            2012;18(1):729]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DB043416.1, AI990484.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000374111.8/ ENSP00000363225.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073366.4.
            On May 17, 2019 this sequence version replaced NM_001042427.2.
            Transcript Variant: This variant (2) contains an alternate 3'
            terminal exon, compared to variant 1. It encodes isoform b, which
            is shorter and has a distinct C-terminus, compared to isoform a.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
FEATURES             Location/Qualifiers
     source          1..3259
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.23"
     gene            1..3259
                     /gene="C10orf53"
                     /note="chromosome 10 open reading frame 53"
                     /db_xref="GeneID:282966"
                     /db_xref="HGNC:HGNC:27421"
     CDS             48..329
                     /gene="C10orf53"
                     /note="isoform b is encoded by transcript variant 2;
                     UPF0728 protein C10orf53"
                     /codon_start=1
                     /product="UPF0728 protein C10orf53 isoform b"
                     /protein_id="NP_001035892.1"
                     /db_xref="CCDS:CCDS41521.1"
                     /db_xref="GeneID:282966"
                     /db_xref="HGNC:HGNC:27421"
                     /translation="MPKNAVVILRYGPYSAAGLPVEHHTFRLQGLQAVLAIDGHEVILE
                     KIEDWNVVELMVNEEVIFHCNIKDLEFGGDGKLDPLCEKARIAVLNAY"
     regulatory      610..615
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C10orf53"
                     /note="hexamer: AATAAA"
     polyA_site      629
                     /gene="C10orf53"
                     /note="major polyA site"
     regulatory      837..842
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C10orf53"
                     /note="hexamer: AATAAA"
     polyA_site      865
                     /gene="C10orf53"
     regulatory      1744..1749
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C10orf53"
                     /note="hexamer: AATAAA"
     polyA_site      1766
                     /gene="C10orf53"
ORIGIN
        1 agcagcgtgt gtttctccct tgcctctgcg gcggcggagg cctggcgatg cccaagaacg
       61 cagtggtcat cctgcgctat gggccctaca gcgcggcagg cctaccggtg gagcaccaca
      121 ccttccgcct gcagggcctg caagctgtgt tggccataga tggacatgag gtcatcctag
      181 agaagataga agactggaat gtggtggaac tcatggtgaa tgaagaagtc atcttccact
      241 gcaacattaa ggacttggag ttcggaggcg atggtaaact agacccactg tgtgaaaagg
      301 ccaggatagc cgtgctgaat gcctactgat ctcctcatgg aacaggcatc tcaagtcggc
      361 acaacagcag ctgccccagc cattctatga tgcaggcaga agtggctgtg ccacggtgtg
      421 gacactgggc tctgctagtc agaacagggc aactcgggcc tgacctccag cttacgcagc
      481 ctcaggattg tcacctggct gcacaggagc ccacagaaat aataaaaacc acatcattta
      541 taacatgtct caatctcaac ccatagggag agccctccaa tatcaggtac acattgagct
      601 gaaggaaaca ataaaatgca atcaaataac aaggtgccat tcctgactaa taacacatag
      661 ttgccagaag catctgagat tccattgttt agtactcaaa gtgctcagaa caggtgaaat
      721 taaagagagg ttgggggaag agtgggaata aaggcttttg aaagtctgaa ccaaaagcaa
      781 atgttaatat ttggaaacct tgctattcct acagatttat ttctgactcc tgagggaata
      841 aatattttaa attgctatta taaaattagc caaaatcaaa tcttcaattt ctctcatcta
      901 aaacaagaaa atgacctgcc ttcttttgca ttaatatcgt ctgaggaggg cgcaaaagag
      961 tcctcagcag aatgtgagat ggttccctgg tccctctgga gtagaacaca gccccataga
     1021 gttaaagagg gttttcacta tgttcagtgt gaaaatcagt catgtcgaaa tgatattttt
     1081 actttccact cttacgcacc aatgtgtagt atatattctt aactatagag taacagagag
     1141 ggggaaatgc agatattgat ctaatgacgt caaatgggag gtcatggtaa gaaggcctca
     1201 cacctacggg gagaaaacca gattccctaa cagaaaactc tggacccggg gcacctgtgc
     1261 tgaaggagca gggctttcag gatcgctcag agacctgcgg cttcacctgc tctgagagca
     1321 gtcctaacca tcgccccagg cagcctcaaa ccctcctgca ccccagaact tcaaagacca
     1381 ctggggacca tgaaactgct tgcacaagtt ccttctcaca caggacaaag taggggatat
     1441 aatttttaaa accccagccc aagcttcact tgtcagagtt gattcaggga ttgtgaatca
     1501 cttagaactc tatggaacta tttaagcatc tccttactga gaaactgagg ctcaaaagag
     1561 attcttcctc ccagtgtctg gtgctggttt tcacatatct tttgtaaccc tacatttagt
     1621 cccttttttt caaaacccag tttaagttac tatagatgta gcattcaatc tttgtttcaa
     1681 tataacattt tactacaaga gaaatccatt ctcattaaag aaaaatggaa aaatacaggt
     1741 aaaaataaag tacaacttta gtaacatttt tatatatttc aatttgggtt tcttctgttt
     1801 atgtctgaat attcataaag agatagacat atagaaattg acttcatcca tttgagattt
     1861 atgcacaatt ttgtaagttt ttaaaaattt ttcaactttt attttagata cagggggtac
     1921 atgggcaggt atgttgaatc tttttttaaa cgtaacattt tacatagagc ctcttcccgc
     1981 atgatttgtt gactgtctga gcattttatc ttgaatcagg aaatctctcc cttgagctgt
     2041 gatttctact ttcatggcca aaactttttc aatgctgaga actgaaattg ctagcttccc
     2101 ctgtctgcat ttggagtggg aacttcatct ccaaacacag tggaatcctg tctcctctag
     2161 ccctgcaacc ccggcattaa actggtaaca agtgcttccc tcggcagccc catgccctcc
     2221 tccagcatcc gcctcaaccc cgcaggttgt atttgtgcct tcagagtagc actacaagtg
     2281 aagaagacct gccctccttg gcttcatgac cagagctgaa gggcaggtaa ggcgagacag
     2341 tacacggatt ctaagaaata ccggagaagc ttctgggaga tgcctgtgcc cagagcccta
     2401 tgtttcagtt tggatcagag gcaaatgatg tctgaatcag cattgctggg aaaaatcacc
     2461 gaggtttcct ctgagcagtg ggattggggg gtgtgggggg caggtgaggt agagggagga
     2521 agtttgcagg gctattctgc cttccgtatt gtaaatgttt ttagtggtgg aattgatttt
     2581 cactttgtat gtaagtgtgt gttaggggta cttttcagat aaaaacttaa aatcagggcc
     2641 gggcactatg gcttttgcct gtaatcccag cactttggga atccaaggtg ggtggatttg
     2701 tttgaacaca ggagttcgag agcagcctgg ccaacatggt gaagcctcat ctctacaaaa
     2761 aatacaaaaa ttagccaggc ctggtggcat gcacctgtag tcccagctac ttgaggggct
     2821 gaggcaggag gatcacctga gcccaggagc tagaggctgc agcgaaccta gatcacgcca
     2881 ctgcactcca gcctgggtga caaagtgaga ccctgtctca gaaaataaaa taaagatttt
     2941 gacatagaag ccacctgtct atggccttat cctcctctgt cactgattaa gaggaacttt
     3001 ctctatggaa atctctgaag aatgtgctgt catcctcctc ctttgcctcc ctctctcgag
     3061 cacgcacctc cctgcccaga agcaagagac acagcttgct ccccatcaaa ggcaaaagtg
     3121 ccctgtgctt caacgtgcta gacattcggg cgccttcatg cttttaaaat accactgatt
     3181 aaatcacatt ttaagtttta taagatgtca agtcaatgtc gttatgatta acatgtaaag
     3241 aaagtgtatt ttaaaataa
//
LOCUS       NM_001042428            1968 bp    mRNA    linear   PRI 02-JUL-2023
DEFINITION  Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2,
            mRNA.
ACCESSION   NM_001042428
VERSION     NM_001042428.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1968)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1968)
  AUTHORS   Iida R, Ueki M and Yasuda T.
  TITLE     Identification of Rhit as a novel transcriptional repressor of human
            Mpv17-like protein with a mitigating effect on mitochondrial
            dysfunction, and its transcriptional regulation by FOXD3 and GABP
  JOURNAL   Free Radic Biol Med 52 (8), 1413-1422 (2012)
   PUBMED   22306510
  REMARK    GeneRIF: that knockdown of RhitH or overexpression of M-LPH reduces
            the generation of intracellular H(2)O(2) and loss of mitochondrial
            membrane potential caused by an inhibitor of the respiratory chain,
            antimycin A
REFERENCE   3  (bases 1 to 1968)
  AUTHORS   Iida R, Ueki M and Yasuda T.
  TITLE     A novel transcriptional repressor, Rhit, is involved in
            heat-inducible and age-dependent expression of Mpv17-like protein, a
            participant in reactive oxygen species metabolism
  JOURNAL   Mol Cell Biol 30 (10), 2306-2315 (2010)
   PUBMED   20231359
REFERENCE   4  (bases 1 to 1968)
  AUTHORS   Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   5  (bases 1 to 1968)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   6  (bases 1 to 1968)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   7  (bases 1 to 1968)
  AUTHORS   Deng Z, Centola M, Chen X, Sood R, Vedula A, Fischel-Ghodsian N and
            Kastner DL.
  TITLE     Identification of two Kruppel-related zinc finger genes (ZNF200 and
            ZNF210) from human chromosome 16p13.3
  JOURNAL   Genomics 53 (1), 97-103 (1998)
   PUBMED   9787081
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.315230.1,
            DRR138524.1301561.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000219091.9/ ENSP00000219091.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB152017.1, AC108134.3 and BM924902.1.
            On Jun 2, 2019 this sequence version replaced NM_001042428.1.
            Transcript Variant: This variant (2) uses an alternate acceptor
            splice site in the 5' non-coding region and has a shorter 5' UTR
            compared to variant 1. Variants 1, 2 and 3 encode the same protein.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1968
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1968
                     /gene="ZNF205"
                     /gene_synonym="RhitH; Zfp13; ZNF210"
                     /note="zinc finger protein 205"
                     /db_xref="GeneID:7755"
                     /db_xref="HGNC:HGNC:12996"
                     /db_xref="MIM:603436"
     misc_feature    106..108
                     /gene="ZNF205"
                     /gene_synonym="RhitH; Zfp13; ZNF210"
                     /note="upstream in-frame stop codon"
     CDS             112..1776
                     /gene="ZNF205"
                     /gene_synonym="RhitH; Zfp13; ZNF210"
                     /note="zinc finger protein 210; repressor of heat-inducible
                     transcription; transcriptional repressor RhitH"
                     /codon_start=1
                     /product="transcriptional repressor RHIT"
                     /protein_id="NP_001035893.1"
                     /db_xref="CCDS:CCDS10494.2"
                     /db_xref="GeneID:7755"
                     /db_xref="HGNC:HGNC:12996"
                     /db_xref="MIM:603436"
                     /translation="MSADGGGIQDTQDKETPPEVPDRGHPHQEMPSKLGEAVPSGDTQE
                     SLHIKMEPEEPHSEGASQEDGAQGAWGWAPLSHGSKEKALFLPGGALPSPRIPVLSREG
                     RTRDRQMAAALLTAWSQMPVTFEDVALYLSREEWGRLDHTQQNFYRDVLQKKNGLSLGF
                     PFSRPFWAPQAHGKGEASGSSRQAGDEKEWRGACTGAVEVGQRVQTSSVAALGNVKPFR
                     TRAGRVQWGVPQCAQEAACGRSSGPAKDSGQPAEPDRTPDAAPPDPSPTEPQEYRVPEK
                     PNEEEKGAPESGEEGLAPDSEVGRKSYRCEQCGKGFSWHSHLVTHRRTHTGEKPYACTD
                     CGKRFGRSSHLIQHQIIHTGEKPYTCPACRKSFSHHSTLIQHQRIHTGEKPYVCDRCAK
                     RFTRRSDLVTHQGTHTGAKPHKCPICAKCFTQSSALVTHQRTHTGVKPYPCPECGKCFS
                     QRSNLIAHNRTHTGEKPYHCLDCGKSFSHSSHLTAHQRTHRGVRPYACPLCGKSFSRRS
                     NLHRHEKIHTTGPKALAMLMLGAAAAGALATPPPAPT"
     misc_feature    112..333
                     /gene="ZNF205"
                     /gene_synonym="RhitH; Zfp13; ZNF210"
                     /note="propagated from UniProtKB/Swiss-Prot (O95201.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    628..696
                     /gene="ZNF205"
                     /gene_synonym="RhitH; Zfp13; ZNF210"
                     /note="propagated from UniProtKB/Swiss-Prot (O95201.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    829..1020
                     /gene="ZNF205"
                     /gene_synonym="RhitH; Zfp13; ZNF210"
                     /note="propagated from UniProtKB/Swiss-Prot (O95201.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    985..987
                     /gene="ZNF205"
                     /gene_synonym="RhitH; Zfp13; ZNF210"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O95201.2); phosphorylation site"
     regulatory      1948..1953
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF205"
                     /gene_synonym="RhitH; Zfp13; ZNF210"
                     /note="hexamer: ATTAAA"
     polyA_site      1968
                     /gene="ZNF205"
                     /gene_synonym="RhitH; Zfp13; ZNF210"
                     /note="major polyA site"
ORIGIN
        1 acccaactcc cccgcccgcc ccgtgcaggc tgtggagact cccttcccgg gggagggggc
       61 ccccactgcc gcaggtgccc cctctgcctc caccccgctc tgaaatagaa aatgtctgca
      121 gacggcggag gcatccagga cacccaggac aaggagacac ccccggaggt tccagatcgt
      181 ggacatcctc atcaggaaat gccttctaag ctgggggagg cggtaccttc aggggacact
      241 caggagtcac tgcacattaa gatggagccc gaagagccac actccgaggg ggcatcgcag
      301 gaggatgggg ctcaaggtgc ctggggctgg gcacccctaa gtcacggctc taaggagaaa
      361 gctctcttcc tgcctggcgg agccctcccc tccccccgga tccccgtgct ttcccgagag
      421 gggaggacca gagaccggca gatggctgca gcgctcctca ctgcctggtc ccagatgcca
      481 gtgactttcg aggatgtggc cttgtacctc tcccgggagg agtggggacg gctggaccac
      541 acgcagcaga acttctacag ggatgtcctg cagaagaaaa atgggctgtc actgggcttt
      601 cccttcagca ggcctttctg ggcccctcaa gcgcacggca agggtgaggc ctcgggctcc
      661 agccggcagg caggagatga gaaggagtgg agaggcgcgt gcacaggagc cgtcgaggtg
      721 gggcagaggg tgcagacctc atccgtggca gcccttggga atgtgaagcc cttcagaacc
      781 agggcaggga gagtccagtg gggcgtcccg cagtgcgcgc aggaagcagc ctgcggccgg
      841 agctcagggc cggccaaaga ctccgggcag ccggctgagc cagatcgcac cccggatgca
      901 gctccgccag accccagtcc cacggagccc caggagtacc gcgtcccgga gaagcccaac
      961 gaggaggaga agggcgcccc ggagagtggc gaggagggcc tggcccctga cagtgaggtg
     1021 ggcaggaaga gctaccggtg cgagcagtgc ggcaagggct tcagctggca ctcgcacctg
     1081 gtgacgcacc ggcgcacgca cacgggcgag aagccctacg cctgcactga ctgcgggaag
     1141 cgcttcggcc gcagctcgca cctcatccag caccagatca tccacacggg cgagaagccc
     1201 tacacctgcc ccgcctgccg gaagagcttc agccaccact ccacgctgat tcagcaccag
     1261 cgcatccaca ccggagagaa gccctacgtg tgcgaccgct gcgccaagcg cttcacccgc
     1321 cgctcggact tggtcaccca ccagggcacc cacacgggcg ccaagccgca caagtgcccc
     1381 atctgcgcca agtgcttcac gcagagctcg gcgctagtca cccaccagcg cacccacact
     1441 ggggtcaagc cctatccgtg ccccgagtgc ggcaagtgct tcagccagcg ttccaacctc
     1501 atcgcgcaca accgcacaca cacaggcgag aagccctacc actgcctcga ctgcggcaag
     1561 agcttcagcc acagctcgca cctcaccgcg caccagcgca cccaccgtgg cgtgcggccc
     1621 tacgcctgcc cgttgtgcgg caagagcttc agccggcgct ccaacctgca ccggcacgag
     1681 aagatccaca ccaccgggcc caaggccctg gccatgctga tgctgggggc ggcggcggcg
     1741 ggggctctgg ccacaccccc acccgctccc acctaggagg ccaggaaagg gggagcgggg
     1801 cgcccagggc cactggaaca gccccactgg agtcaaggct ccgagggagg agagaggggc
     1861 tcgggaaggg agctggggcg gtgagggcat ggggtgaggc atggcgatgg gggagggcga
     1921 gggcgagaaa gggcaggcac tctgcgaatt aaaggccttg gacttgaa
//
LOCUS       NM_001042432            1685 bp    mRNA    linear   PRI 18-JUL-2023
DEFINITION  Homo sapiens CLN3 lysosomal/endosomal transmembrane protein,
            battenin (CLN3), transcript variant 1, mRNA.
ACCESSION   NM_001042432
VERSION     NM_001042432.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1685)
  AUTHORS   Calcagni' A, Staiano L, Zampelli N, Minopoli N, Herz NJ, Di Tullio
            G, Huynh T, Monfregola J, Esposito A, Cirillo C, Bajic A, Zahabiyon
            M, Curnock R, Polishchuk E, Parkitny L, Medina DL, Pastore N, Cullen
            PJ, Parenti G, De Matteis MA, Grumati P and Ballabio A.
  TITLE     Loss of the batten disease protein CLN3 leads to mis-trafficking of
            M6PR and defective autophagic-lysosomal reformation
  JOURNAL   Nat Commun 14 (1), 3911 (2023)
   PUBMED   37400440
  REMARK    GeneRIF: Loss of the batten disease protein CLN3 leads to
            mis-trafficking of M6PR and defective autophagic-lysosomal
            reformation. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1685)
  AUTHORS   Relton EL, Roth NJ, Yasa S, Kaleem A, Hermey G, Minnis CJ, Mole SE,
            Shelkovnikova T, Lefrancois S, McCormick PJ and Locker N.
  TITLE     The Batten disease protein CLN3 is important for stress granules
            dynamics and translational activity
  JOURNAL   J Biol Chem 299 (5), 104649 (2023)
   PUBMED   36965618
  REMARK    GeneRIF: The Batten disease protein CLN3 is important for stress
            granules dynamics and translational activity.
REFERENCE   3  (bases 1 to 1685)
  AUTHORS   Laqtom NN, Dong W, Medoh UN, Cangelosi AL, Dharamdasani V, Chan SH,
            Kunchok T, Lewis CA, Heinze I, Tang R, Grimm C, Dang Do AN, Porter
            FD, Ori A, Sabatini DM and Abu-Remaileh M.
  TITLE     CLN3 is required for the clearance of glycerophosphodiesters from
            lysosomes
  JOURNAL   Nature 609 (7929), 1005-1011 (2022)
   PUBMED   36131016
  REMARK    GeneRIF: CLN3 is required for the clearance of
            glycerophosphodiesters from lysosomes.
REFERENCE   4  (bases 1 to 1685)
  AUTHORS   Klein M, Kaleem A, Oetjen S, Wunkhaus D, Binkle L, Schilling S,
            Gjorgjieva M, Scholz R, Gruber-Schoffnegger D, Storch S, Kins S,
            Drewes G, Hoffmeister-Ullerich S, Kuhl D and Hermey G.
  TITLE     Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome
            system
  JOURNAL   Autophagy 18 (9), 2068-2085 (2022)
   PUBMED   34964690
  REMARK    GeneRIF: Converging roles of PSENEN/PEN2 and CLN3 in the
            autophagy-lysosome system.
REFERENCE   5  (bases 1 to 1685)
  AUTHORS   Janes RW, Munroe PB, Mitchison HM, Gardiner RM, Mole SE and Wallace
            BA.
  TITLE     A model for Batten disease protein CLN3: functional implications
            from homology and mutations
  JOURNAL   FEBS Lett 399 (1-2), 75-77 (1996)
   PUBMED   8980123
REFERENCE   6  (bases 1 to 1685)
  AUTHORS   Jarvela I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE and Syvanen
            AC.
  TITLE     Rapid diagnostic test for the major mutation underlying Batten
            disease
  JOURNAL   J Med Genet 33 (12), 1041-1042 (1996)
   PUBMED   9004140
REFERENCE   7  (bases 1 to 1685)
  AUTHORS   Taschner PE, de Vos N, Thompson AD, Callen DF, Doggett N, Mole SE,
            Dooley TP, Barth PG and Breuning MH.
  TITLE     Chromosome 16 microdeletion in a patient with juvenile neuronal
            ceroid lipofuscinosis (Batten disease)
  JOURNAL   Am J Hum Genet 56 (3), 663-668 (1995)
   PUBMED   7887420
REFERENCE   8  (bases 1 to 1685)
  AUTHORS   Mole,S.E. and Williams,R.E.
  TITLE     Neuronal Ceroid-Lipofuscinoses - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301601
REFERENCE   9  (bases 1 to 1685)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301334
REFERENCE   10  (bases 1 to 1685)
  AUTHORS   Barnett TR, Pickle W 2nd and Elting JJ.
  TITLE     Characterization of two new members of the pregnancy-specific beta
            1-glycoprotein family from the myeloid cell line KG-1 and suggestion
            of two distinct classes of transcription unit
  JOURNAL   Biochemistry 29 (44), 10213-10218 (1990)
   PUBMED   2271648
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC002394.2, AK313002.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000636147.2/ ENSP00000490105.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA552461.1, DB101039.1,
            AF077957.1 and AI138575.1.
            On Nov 21, 2019 this sequence version replaced NM_001042432.1.
            Summary: This gene encodes a protein that is involved in lysosomal
            function. Mutations in this, as well as other neuronal
            ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases
            commonly known as Batten disease or collectively known as neuronal
            ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (1) represents the longest
            transcript. Both variants 1 and 2 encode the same isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1685
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.1"
     gene            1..1685
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="CLN3 lysosomal/endosomal transmembrane protein,
                     battenin"
                     /db_xref="GeneID:1201"
                     /db_xref="HGNC:HGNC:2074"
                     /db_xref="MIM:607042"
     misc_feature    96..98
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="upstream in-frame stop codon"
     CDS             132..1448
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="isoform a is encoded by transcript variant 1;
                     battenin; CLN3, battenin; batten disease protein;
                     ceroid-lipofuscinosis, neuronal 3"
                     /codon_start=1
                     /product="battenin isoform a"
                     /protein_id="NP_001035897.1"
                     /db_xref="CCDS:CCDS10632.1"
                     /db_xref="GeneID:1201"
                     /db_xref="HGNC:HGNC:2074"
                     /db_xref="MIM:607042"
                     /translation="MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLG
                     LCNNFSYVVMLSAAHDILSHKRTSGNQSHVDPGPTPIPHNSSSRFDCNSVSTAAVLLAD
                     ILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASISSG
                     LGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPAL
                     LLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGL
                     LWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCC
                     RIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALE
                     TSDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS"
     mat_peptide     132..1436
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /product="Battenin. /id=PRO_0000089857"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13286.1)"
     misc_feature    132..206
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13286.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    165..167
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q13286.1);
                     phosphorylation site"
     misc_feature    171..173
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q13286.1);
                     phosphorylation site"
     misc_feature    243..305
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13286.1);
                     transmembrane region"
     misc_feature    342..344
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17286803; propagated from
                     UniProtKB/Swiss-Prot (Q13286.1); glycosylation site"
     misc_feature    384..386
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17286803; propagated from
                     UniProtKB/Swiss-Prot (Q13286.1); glycosylation site"
     misc_feature    513..575
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13286.1);
                     transmembrane region"
     misc_feature    585..647
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13286.1);
                     transmembrane region"
     misc_feature    678..740
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13286.1);
                     transmembrane region"
     misc_feature    840..935
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13286.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    855..863
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13286.1);
                     Region: Lysosomal targeting motif.
                     /evidence=ECO:0000269|PubMed:15469932"
     misc_feature    888..893
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13286.1);
                     Region: Lysosomal targeting motif. Required for AP1G1,
                     AP2A2 and AP3D1 interaction.
                     /evidence=ECO:0000269|PubMed:14699076,
                     ECO:0000269|PubMed:15469932, ECO:0000269|PubMed:15598649"
     misc_feature    963..1025
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13286.1);
                     transmembrane region"
     misc_feature    1059..1061
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q13286.1); glycosylation site"
     misc_feature    1170..1232
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13286.1);
                     transmembrane region"
     misc_feature    1356..1388
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13286.1);
                     Region: Lysosomal targeting motif.
                     /evidence=ECO:0000269|PubMed:14699076"
     misc_feature    1434..1436
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="Cysteine methyl ester. /evidence=ECO:0000305;
                     propagated from UniProtKB/Swiss-Prot (Q13286.1);
                     methylation site"
     regulatory      1661..1666
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="hexamer: AATAAA"
     polyA_site      1685
                     /gene="CLN3"
                     /gene_synonym="BTN1; BTS; JNCL"
                     /note="major polyA site"
ORIGIN
        1 acgtgatccg acaaacggcc tctgcatagt gcagaacatt ctgctgctct taaagaccct
       61 catccctccc gtgggagccc cctttggaca ctctatgacc ctggaccctc gggggacctg
      121 aacttgatgc gatgggaggc tgtgcaggct cgcggcggcg cttttcggat tccgaggggg
      181 aggagaccgt cccggagccc cggctccctc tgttggacca tcagggcgcg cattggaaga
      241 acgcggtggg cttctggctg ctgggccttt gcaacaactt ctcttatgtg gtgatgctga
      301 gtgccgccca cgacatcctt agccacaaga ggacatcggg aaaccagagc catgtggacc
      361 caggcccaac gccgatcccc cacaacagct catcacgatt tgactgcaac tctgtctcta
      421 cggctgctgt gctcctggcg gacatcctcc ccacactcgt catcaaattg ttggctcctc
      481 ttggccttca cctgctgccc tacagccccc gggttctcgt cagtgggatt tgtgctgctg
      541 gaagcttcgt cctggttgcc ttttctcatt ctgtggggac cagcctgtgt ggtgtggtct
      601 tcgctagcat ctcatcaggc cttggggagg tcaccttcct ctccctcact gccttctacc
      661 ccagggccgt gatctcctgg tggtcctcag ggactggggg agctgggctg ctgggggccc
      721 tgtcctacct gggcctcacc caggccggcc tctcccctca gcagaccctg ctgtccatgc
      781 tgggtatccc tgccctgctg ctggccagct atttcttgtt gctcacatct cctgaggccc
      841 aggaccctgg aggggaagaa gaagcagaga gcgcagcccg gcagcccctc ataagaaccg
      901 aggccccgga gtcgaagcca ggctccagct ccagcctctc ccttcgggaa aggtggacag
      961 tgttcaaggg tctgctgtgg tacattgttc ccttggtcgt agtttacttt gccgagtatt
     1021 tcattaacca gggacttttt gaactcctct ttttctggaa cacttccctg agtcacgctc
     1081 agcaataccg ctggtaccag atgctgtacc aggctggcgt ctttgcctcc cgctcttctc
     1141 tccgctgctg tcgcatccgt ttcacctggg ccctggccct gctgcagtgc ctcaacctgg
     1201 tgttcctgct ggcagacgtg tggttcggct ttctgccaag catctacctc gtcttcctga
     1261 tcattctgta tgaggggctc ctgggaggcg cagcctacgt gaacaccttc cacaacatcg
     1321 ccctggagac cagtgatgag caccgggagt ttgcaatggc ggccacctgc atctctgaca
     1381 cactggggat ctccctgtcg gggctcctgg ctttgcctct gcatgacttc ctctgccagc
     1441 tctcctgata ctcgggatcc tcaggacgca ggtcacattc acctgtgggc agagggacag
     1501 gtcagacacc caggcccacc ccagagaccc tccatgaact gtgctcccag ccttcccggc
     1561 aggtctggga gtagggaagg gctgaagcct tgtttccctt gcaggggggc cagccattgt
     1621 ctcccacttg gggagtttct tcctggcatc atgccttctg aataaatgcc gattttatcc
     1681 atgga
//
LOCUS       NM_001042450            3966 bp    mRNA    linear   PRI 27-AUG-2023
DEFINITION  Homo sapiens solute carrier family 5 member 10 (SLC5A10), transcript
            variant 2, mRNA.
ACCESSION   NM_001042450
VERSION     NM_001042450.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3966)
  AUTHORS   Diederich J, Mounkoro P, Tirado HA, Chevalier N, Van Schaftingen E
            and Veiga-da-Cunha M.
  TITLE     SGLT5 is the renal transporter for 1,5-anhydroglucitol, a major
            player in two rare forms of neutropenia
  JOURNAL   Cell Mol Life Sci 80 (9), 259 (2023)
   PUBMED   37594549
  REMARK    GeneRIF: SGLT5 is the renal transporter for 1,5-anhydroglucitol, a
            major player in two rare forms of neutropenia. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 3966)
  AUTHORS   Loomis SJ, Kottgen A, Li M, Tin A, Coresh J, Boerwinkle E, Gibbs R,
            Muzny D, Pankow J, Selvin E and Duggal P.
  TITLE     Rare variants in SLC5A10 are associated with serum
            1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in
            Communities (ARIC) Study
  JOURNAL   Sci Rep 9 (1), 5941 (2019)
   PUBMED   30976018
  REMARK    GeneRIF: Rare variants in SLC5A10 are associated with serum
            1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in
            Communities (ARIC) Study. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3966)
  AUTHORS   Hong MJ, Yoo SS, Choi JE, Kang HG, Do SK, Lee JH, Lee WK, Lee J, Lee
            SY, Cha SI, Kim CH, Lee EB, Cho S, Jheon S and Park JY.
  TITLE     Functional intronic variant of SLC5A10 affects DRG2 expression and
            survival outcomes of early-stage non-small-cell lung cancer
  JOURNAL   Cancer Sci 109 (12), 3902-3909 (2018)
   PUBMED   30281872
  REMARK    GeneRIF: Results show that rs2257609 C>T is located in the intron
            region of SLC5A10 and is significantly associated with worse overall
            and disease-free survival of non-small-cell lung cancer (NSCLC)
            patients. The rs2257609 C>T variant does not affect the expression
            of SLC5A10 mRNA, but alters the mRNA expression and promoter
            activity of DRG2.
REFERENCE   4  (bases 1 to 3966)
  AUTHORS   Ghezzi C, Gorraitz E, Hirayama BA, Loo DD, Grempler R, Mayoux E and
            Wright EM.
  TITLE     Fingerprints of hSGLT5 sugar and cation selectivity
  JOURNAL   Am J Physiol Cell Physiol 306 (9), C864-C870 (2014)
   PUBMED   24573086
  REMARK    GeneRIF: hSGLT5 is a sodium/mannose transporter that is blocked by
            phlorizin. Li(+) and H(+) ions were also able to drive mannose
            transport, and transport was electrogenic.
REFERENCE   5  (bases 1 to 3966)
  AUTHORS   Grempler R, Augustin R, Froehner S, Hildebrandt T, Simon E, Mark M
            and Eickelmann P.
  TITLE     Functional characterisation of human SGLT-5 as a novel
            kidney-specific sodium-dependent sugar transporter
  JOURNAL   FEBS Lett 586 (3), 248-253 (2012)
   PUBMED   22212718
  REMARK    GeneRIF: SGLT-5 as a kidney mannose transporter
REFERENCE   6  (bases 1 to 3966)
  AUTHORS   Chen J, Williams S, Ho S, Loraine H, Hagan D, Whaley JM and Feder
            JN.
  TITLE     Quantitative PCR tissue expression profiling of the human SGLT2 gene
            and related family members
  JOURNAL   Diabetes Ther 1 (2), 57-92 (2010)
   PUBMED   22127746
REFERENCE   7  (bases 1 to 3966)
  AUTHORS   Lynn KS, Li LL, Lin YJ, Wang CH, Sheng SH, Lin JH, Liao W, Hsu WL
            and Pan WH.
  TITLE     A neural network model for constructing endophenotypes of common
            complex diseases: an application to male young-onset hypertension
            microarray data
  JOURNAL   Bioinformatics 25 (8), 981-988 (2009)
   PUBMED   19237446
REFERENCE   8  (bases 1 to 3966)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   9  (bases 1 to 3966)
  AUTHORS   Wright EM and Turk E.
  TITLE     The sodium/glucose cotransport family SLC5
  JOURNAL   Pflugers Arch 447 (5), 510-518 (2004)
   PUBMED   12748858
  REMARK    Review article Erratum:[Pflugers Arch. 2004 Feb;447(5):813-5]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC034380.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2145774 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000395645.4/ ENSP00000379007.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP332461.1, DR003789.1,
            BC034380.1, AA745934.1 and AC003957.1.
            On Feb 27, 2020 this sequence version replaced NM_001042450.3.
            Summary: This gene is a member of the sodium/glucose transporter
            family. Members of this family are sodium-dependent transporters
            and can be divided into two subfamilies based on sequence homology,
            one that co-transports sugars and the second that transports
            molecules such as ascorbate, choline, iodide, lipoate,
            monocaroboxylates, and pantothenate. The protein encoded by this
            gene has the highest affinity for mannose and has been reported to
            be most highly expressed in the kidney. This protein may function
            as a kidney-specific, sodium-dependent mannose and fructose
            co-transporter. Alternative splicing results in multiple transcript
            variants that encode different protein isoforms. [provided by
            RefSeq, Jul 2012].
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the coding region compared to variant 1. This
            results in a shorter protein (isoform 2), compared to isoform 1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3966
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..3966
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="solute carrier family 5 member 10"
                     /db_xref="GeneID:125206"
                     /db_xref="HGNC:HGNC:23155"
                     /db_xref="MIM:618636"
     CDS             42..1832
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="isoform 2 is encoded by transcript variant 2;
                     sodium/glucose cotransporter 5; Na(+)/glucose cotransporter
                     5; solute carrier family 5 (sodium/sugar cotransporter),
                     member 10; solute carrier family 5 (sodium/glucose
                     cotransporter), member 10; sodium/mannose cotransporter
                     SLC5A10"
                     /codon_start=1
                     /product="sodium/mannose cotransporter SLC5A10 isoform 2"
                     /protein_id="NP_001035915.1"
                     /db_xref="CCDS:CCDS42275.1"
                     /db_xref="GeneID:125206"
                     /db_xref="HGNC:HGNC:23155"
                     /db_xref="MIM:618636"
                     /translation="MAANSTSDLHTPGTQLSVADIIVITVYFALNVAVGIWSSCRASRN
                     TVNGYFLAGRDMTWWPIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWNATYVLLAL
                     AWVFVPIYISSEIVTLPEYIQKRYGGQRIRMYLSVLSLLLSVFTKISLDLYAGALFVHI
                     CLGWNFYLSTILTLGITALYTIAGGLAAVIYTDALQTLIMVVGAVILTIKAFDQIGGYG
                     QLEAAYAQAIPSRTIANTTCHLPRTDAMHMFRDPHTGDLPWTGMTFGLTIMATWYWCTD
                     QVIVQRSLSARDLNHAKAGSILASYLKMLPMGLIIMPGMISRALFPDDVGCVVPSECLR
                     ACGAEVGCSNIAYPKLVMELMPIGLRGLMIAVMLAALMSSLTSIFNSSSTLFTMDIWRR
                     LRPRSGERELLLVGRLVIVALIGVSVAWIPVLQDSNSGQLFIYMQSVTSSLAPPVTAVF
                     VLGVFWRRANEQGAFWGLIAGLVVGATRLVLEFLNPAPPCGEPDTRPAVLGSIHYLHFA
                     VALFALSGAVVVAGSLLTPPPQSVQIENLTWWTLAQDVPLGTKAGDGQTPQKHAFWARV
                     CGFNAILLMCVNIFFYAYFA"
     misc_feature    51..53
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A0PJK1.2); glycosylation site"
     misc_feature    87..149
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJK1.2);
                     transmembrane region"
     misc_feature    258..320
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJK1.2);
                     transmembrane region"
     misc_feature    327..329
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (A0PJK1.2); glycosylation site"
     misc_feature    339..401
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJK1.2);
                     transmembrane region"
     misc_feature    462..464
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (A0PJK1.2); phosphorylation site"
     misc_feature    474..476
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (A0PJK1.2); phosphorylation site"
     misc_feature    483..485
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (A0PJK1.2); phosphorylation site"
     misc_feature    489..551
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJK1.2);
                     transmembrane region"
     misc_feature    561..623
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJK1.2);
                     transmembrane region"
     misc_feature    642..704
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJK1.2);
                     transmembrane region"
     misc_feature    834..896
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJK1.2);
                     transmembrane region"
     misc_feature    942..1004
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJK1.2);
                     transmembrane region"
     misc_feature    1107..1169
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJK1.2);
                     transmembrane region"
     misc_feature    1269..1331
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJK1.2);
                     transmembrane region"
     misc_feature    1371..1433
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJK1.2);
                     transmembrane region"
     misc_feature    1455..1517
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJK1.2);
                     transmembrane region"
     misc_feature    1581..1643
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJK1.2);
                     transmembrane region"
     misc_feature    1767..1829
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="propagated from UniProtKB/Swiss-Prot (A0PJK1.2);
                     transmembrane region"
     polyA_site      2086
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="major polyA site"
     regulatory      3944..3949
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
                     /note="hexamer: TATAAA"
     polyA_site      3966
                     /gene="SLC5A10"
                     /gene_synonym="SGLT-5; SGLT5"
ORIGIN
        1 agtccctcgg gctcatacct agtgcctgcg gcaggacagc catggccgcc aactccacca
       61 gcgacctcca cactcccggg acgcagctga gcgtggctga catcatcgtc atcactgtgt
      121 attttgctct gaatgtggcc gtgggcatat ggtcctcttg tcgggccagt aggaacacgg
      181 tgaatggcta cttcctggca ggccgggaca tgacgtggtg gccgattgga gcctccctct
      241 tcgccagcag cgagggctct ggcctcttca ttggactggc gggctcaggc gcggcaggag
      301 gtctggccgt ggcaggcttc gagtggaatg ccacgtacgt gctgctggca ctggcatggg
      361 tgttcgtgcc catctacatc tcctcagaga tcgtcacctt acctgagtac attcagaagc
      421 gctacggggg ccagcggatc cgcatgtacc tgtctgtcct gtccctgcta ctgtctgtct
      481 tcaccaagat atcgctggac ctgtacgcgg gggctctgtt tgtgcacatc tgcctgggct
      541 ggaacttcta cctctccacc atcctcacgc tcggcatcac agccctgtac accatcgcag
      601 ggggcctggc tgctgtaatc tacacggacg ccctgcagac gctcatcatg gtggtggggg
      661 ctgtcatcct gacaatcaaa gcttttgacc agatcggtgg ttacgggcag ctggaggcag
      721 cctacgccca ggccattccc tccaggacca ttgccaacac cacctgccac ctgccacgta
      781 cagacgccat gcacatgttt cgagaccccc acacagggga cctgccgtgg accgggatga
      841 cctttggcct gaccatcatg gccacctggt actggtgcac cgaccaggtc atcgtgcagc
      901 gatcactgtc agcccgggac ctgaaccatg ccaaggcggg ctccatcctg gccagctacc
      961 tcaagatgct ccccatgggc ctgatcatca tgccgggcat gatcagccgc gcattgttcc
     1021 cagatgatgt gggctgcgtg gtgccgtccg agtgcctgcg ggcctgcggg gccgaggtcg
     1081 gctgctccaa catcgcctac cccaagctgg tcatggaact gatgcccatc ggtctgcggg
     1141 ggctgatgat cgcagtgatg ctggcggcgc tcatgtcgtc gctgacctcc atcttcaaca
     1201 gcagcagcac cctcttcact atggacatct ggaggcggct gcgtccccgc tccggcgagc
     1261 gggagctcct gctggtggga cggctggtca tagtggcact catcggcgtg agtgtggcct
     1321 ggatccccgt cctgcaggac tccaacagcg ggcaactctt catctacatg cagtcagtga
     1381 ccagctccct ggccccacca gtgactgcag tctttgtcct gggcgtcttc tggcgacgtg
     1441 ccaacgagca gggggccttc tggggcctga tagcagggct ggtggtgggg gccacgaggc
     1501 tggtcctgga attcctgaac ccagccccac cgtgcggaga gccagacacg cggccagccg
     1561 tcctggggag catccactac ctgcacttcg ctgtcgccct ctttgcactc agtggtgctg
     1621 ttgtggtggc tggaagcctg ctgaccccac ccccacagag tgtccagatt gagaacctta
     1681 cctggtggac cctggctcag gatgtgccct tgggaactaa agcaggtgat ggccaaacac
     1741 cccagaaaca cgccttctgg gcccgtgtct gtggcttcaa tgccatcctc ctcatgtgtg
     1801 tcaacatatt cttttatgcc tacttcgcct gacactgcca tcctggacag aaaggcagga
     1861 gctctgagtc ctcaggtcca cccatttccc tcatggggat cccgaggccc caagaggggc
     1921 agattcccct cacagctgca cagcagctcg gtgcccaaga actggccaag ccagcaaagc
     1981 gggagccctg aaaaattagg ggggaaatgg gagaaaataa tgtgacattt caaaaacagc
     2041 accaaagcag tcagcattgg aaggaaaatt agatttctga cggacatcct gatgttggtt
     2101 ttactgtttt cgttttgaat acacaggctg ggtcaggagc agtgagattt gccagcactc
     2161 agggttctaa gggtcttggg ccagctctgg atggaggaag agccccacat gcccagagca
     2221 aggcccccca ttaagggact gcagccacct ccaagggctc ctccctccac ccaccggctc
     2281 ccaaatgcca gagggagcct cttcgccctc cctccctgcc caccatccct caaccatcag
     2341 cctggcgttc aaagcctttc caagtcccac ctcacttttc cctctcccaa aggtgcccag
     2401 gctctgggca ggccctgctc atatccctga tcatggcaca ttctctggag gaccctcctg
     2461 ttctcgggta ggggccgtgc cccacctagg tagccgtccc atgtgggatc ctgtaggatc
     2521 tctaaaacct agctctggcc ccaactttct gtctgccctg gaggtttctc agcctcctga
     2581 gagctctgct gggccccggt ctgggcagaa cctgggccta aacaaacaag agccagggca
     2641 gccagggtct ctgcgtggct gggcccaggg cttgccctca gagctcacct gtccaacaga
     2701 agaggagtgt gcctccacct tccctactgc ccgccccttt ttcagggtct tagggcctct
     2761 agccctgtgg tggggtgctg ggtgccccag gtggagctga agtcatgggg ctgttgagga
     2821 gttggtgtcc acctggagtc tgtccagtga gtttaggtca acaggtgtgc agtctgtcct
     2881 tcgaggctga gccacctccc aacagcctga acaactccag gggccttttg agggaggggc
     2941 aggcaggccc agtgggtggt cagcccaagg tgaacccacc caccatggcc agggttcctt
     3001 aggttgagcc tccagtgggt gaaacctggg agtcctcaac cttcctggca gatggggcca
     3061 ttgacaagag gaggtgggcg gggcctccac agactccgcc ctgtggtgtc acacagctgg
     3121 cagccaatgg aaagcaacca gccaggaagc cccggagcta cccttgctgg gtacccttgc
     3181 tgggggacct gggccatccc agtttgtgca gagcggccgg aggcagttag gagcccacgt
     3241 tcagtccaag gccgtccact gagccccgtg tgactctgac agagctgggg gtgtccatgt
     3301 cctctctgga cctcagttcc tgtaaaaagg cccgttggcc agatcggccg ccgggctgct
     3361 cacaggtgca cgggctgcac gtaactccgt gggaagaagc caacgcgccc gcaggaccgg
     3421 ccccgccacc agtgggggtc tgggcgctcc aggacctcaa tgatgtcgcc acggcggaag
     3481 ctgagctgcg aggggtcctg ggctgagaag tcaaactggg cctgggcaaa gcaggcccca
     3541 ggtgactgca agaagaggag gtggttagta gggtgccttc agaagccctg caacccaccc
     3601 tccctcagag gcacccaaga gaagtgattt gccacaggtg aggaggggtc tcgggcagca
     3661 ccggagttga actttaagtc cagatcaatg gtagtgccac cactgggcct cctgctgccc
     3721 acacccctgc ctgtctgctg tgcagatgct gcatctacat agaacacggc tttcccagcc
     3781 gcccagctgg gacaataggg ctggtgggtc aggggacctg agtcctggtc cttagggtgg
     3841 gattttggtt aggtccctgc ttctcttggg atcttattta cccgactctg cagcagccat
     3901 ggtagctttt gactccaggc cacaaagcca tgagaatggg ccttataaac tgtaaagtga
     3961 cgtgca
//
LOCUS       NM_001042454            1805 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens transforming growth factor beta 1 induced transcript 1
            (TGFB1I1), transcript variant 1, mRNA.
ACCESSION   NM_001042454
VERSION     NM_001042454.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1805)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (bases 1 to 1805)
  AUTHORS   Sha L, Ma D and Chen C.
  TITLE     Exosome-mediated Hic-5 regulates proliferation and apoptosis of
            osteosarcoma via Wnt/beta-catenin signal pathway
  JOURNAL   Aging (Albany NY) 12 (23), 23598-23608 (2020)
   PUBMED   33310972
  REMARK    GeneRIF: Exosome-mediated Hic-5 regulates proliferation and
            apoptosis of osteosarcoma via Wnt/beta-catenin signal pathway.
REFERENCE   3  (bases 1 to 1805)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   4  (bases 1 to 1805)
  AUTHORS   Ruan XJ, Ye BL, Zheng ZH, Li ST, Zheng XF and Zhang SZ.
  TITLE     TGFbeta1I1 suppressed cell migration and invasion in colorectal
            cancer by inhibiting the TGF-beta pathway and EMT progress
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (13), 7294-7302 (2020)
   PUBMED   32706067
  REMARK    GeneRIF: TGFbeta1I1 suppressed cell migration and invasion in
            colorectal cancer by inhibiting the TGF-beta pathway and EMT
            progress.
REFERENCE   5  (bases 1 to 1805)
  AUTHORS   Alpha KM, Xu W and Turner CE.
  TITLE     Paxillin family of focal adhesion adaptor proteins and regulation of
            cancer cell invasion
  JOURNAL   Int Rev Cell Mol Biol 355, 1-52 (2020)
   PUBMED   32859368
  REMARK    GeneRIF: Paxillin family of focal adhesion adaptor proteins and
            regulation of cancer cell invasion.
REFERENCE   6  (bases 1 to 1805)
  AUTHORS   Fujimoto N, Yeh S, Kang HY, Inui S, Chang HC, Mizokami A and Chang
            C.
  TITLE     Cloning and characterization of androgen receptor coactivator,
            ARA55, in human prostate
  JOURNAL   J Biol Chem 274 (12), 8316-8321 (1999)
   PUBMED   10075738
REFERENCE   7  (bases 1 to 1805)
  AUTHORS   Matsuya M, Sasaki H, Aoto H, Mitaka T, Nagura K, Ohba T, Ishino M,
            Takahashi S, Suzuki R and Sasaki T.
  TITLE     Cell adhesion kinase beta forms a complex with a new member, Hic-5,
            of proteins localized at focal adhesions
  JOURNAL   J Biol Chem 273 (2), 1003-1014 (1998)
   PUBMED   9422762
REFERENCE   8  (bases 1 to 1805)
  AUTHORS   Shibanuma M, Mochizuki E, Maniwa R, Mashimo J, Nishiya N, Imai S,
            Takano T, Oshimura M and Nose K.
  TITLE     Induction of senescence-like phenotypes by forced expression of
            hic-5, which encodes a novel LIM motif protein, in immortalized
            human fibroblasts
  JOURNAL   Mol Cell Biol 17 (3), 1224-1235 (1997)
   PUBMED   9032249
REFERENCE   9  (bases 1 to 1805)
  AUTHORS   Shibanuma M, Mashimo J, Kuroki T and Nose K.
  TITLE     Characterization of the TGF beta 1-inducible hic-5 gene that encodes
            a putative novel zinc finger protein and its possible involvement in
            cellular senescence
  JOURNAL   J Biol Chem 269 (43), 26767-26774 (1994)
   PUBMED   7929412
REFERENCE   10  (bases 1 to 1805)
  AUTHORS   Wilson SE and Lloyd SA.
  TITLE     Epidermal growth factor and its receptor, basic fibroblast growth
            factor, transforming growth factor beta-1, and interleukin-1 alpha
            messenger RNA production in human corneal endothelial cells
  JOURNAL   Invest Ophthalmol Vis Sci 32 (10), 2747-2756 (1991)
   PUBMED   1716619
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK313327.1, ERR279837.962.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000394863.8/ ENSP00000378332.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026471.6 and AK313327.1.
            On Nov 22, 2018 this sequence version replaced NM_001042454.2.
            Summary: This gene encodes a coactivator of the androgen receptor,
            a transcription factor which is activated by androgen and has a key
            role in male sexual differentiation. The encoded protein is thought
            to regulate androgen receptor activity and may have a role to play
            in the treatment of prostate cancer. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Sep 2009].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer protein (isoform 1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1805
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..1805
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="transforming growth factor beta 1 induced transcript
                     1"
                     /db_xref="GeneID:7041"
                     /db_xref="HGNC:HGNC:11767"
                     /db_xref="MIM:602353"
     CDS             38..1423
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     androgen receptor coactivator ARA55; transforming growth
                     factor beta-1-induced transcript 1 protein; hydrogen
                     peroxide-inducible clone 5 protein; androgen
                     receptor-associated protein of 55 kDa; androgen receptor
                     coactivator 55 kDa protein; hydrogen peroxide-inducible
                     clone-5"
                     /codon_start=1
                     /product="transforming growth factor beta-1-induced
                     transcript 1 protein isoform 1"
                     /protein_id="NP_001035919.1"
                     /db_xref="CCDS:CCDS42156.1"
                     /db_xref="GeneID:7041"
                     /db_xref="HGNC:HGNC:11767"
                     /db_xref="MIM:602353"
                     /translation="MEDLDALLSDLETTTSHMPRSGAPKERPAEPLTPPPSYGHQPQTG
                     SGESSGASGDKDHLYSTVCKPRSPKPAAPAAPPFSSSSGVLGTGLCELDRLLQELNATQ
                     FNITDEIMSQFPSSKVASGEQKEDQSEDKKRPSLPSSPSPGLPKASATSATLELDRLMA
                     SLSDFRVQNHLPASGPTQPPVVSSTNEGSPSPPEPTGKGSLDTMLGLLQSDLSRRGVPT
                     QAKGLCGSCNKPIAGQVVTALGRAWHPEHFVCGGCSTALGGSSFFEKDGAPFCPECYFE
                     RFSPRCGFCNQPIRHKMVTALGTHWHPEHFCCVSCGEPFGDEGFHEREGRPYCRRDFLQ
                     LFAPRCQGCQGPILDNYISALSALWHPDCFVCRECFAPFSGGSFFEHEGRPLCENHFHA
                     RRGSLCATCGLPVTGRCVSALGRRFHPDHFTCTFCLRPLTKGSFQERAGKPYCQPCFLK
                     LFG"
     misc_feature    38..757
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="propagated from UniProtKB/Swiss-Prot (O43294.2);
                     Region: Interaction with PTK2B/PYK2"
     misc_feature    38..637
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="propagated from UniProtKB/Swiss-Prot (O43294.2);
                     Region: Transcription activation. /evidence=ECO:0000250"
     misc_feature    38..298
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="propagated from UniProtKB/Swiss-Prot (O43294.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    38..40
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (O43294.2); acetylation site"
     misc_feature    44..82
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="propagated from UniProtKB/Swiss-Prot (O43294.2);
                     Region: LD motif 1"
     misc_feature    134..136
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O43294.2); phosphorylation site"
     misc_feature    149..151
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q62219; propagated from
                     UniProtKB/Swiss-Prot (O43294.2); phosphorylation site"
     misc_feature    215..217
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="Phosphotyrosine, by FAK2 and FYN.
                     /evidence=ECO:0000269|PubMed:10838081,
                     ECO:0000269|PubMed:11856738; propagated from
                     UniProtKB/Swiss-Prot (O43294.2); phosphorylation site"
     misc_feature    239..241
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O43294.2); phosphorylation site"
     misc_feature    284..445
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="propagated from UniProtKB/Swiss-Prot (O43294.2);
                     Region: Interaction with PTK2/FAK1. /evidence=ECO:0000250"
     misc_feature    311..349
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="propagated from UniProtKB/Swiss-Prot (O43294.2);
                     Region: LD motif 2"
     misc_feature    383..493
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="propagated from UniProtKB/Swiss-Prot (O43294.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    446..448
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O43294.2);
                     phosphorylation site"
     misc_feature    455..457
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O43294.2); phosphorylation site"
     misc_feature    458..460
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43294.2); phosphorylation site"
     misc_feature    464..466
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O43294.2); phosphorylation site"
     misc_feature    506..541
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="propagated from UniProtKB/Swiss-Prot (O43294.2);
                     Region: LD motif 3"
     misc_feature    527..529
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43294.2); phosphorylation site"
     misc_feature    551..652
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="propagated from UniProtKB/Swiss-Prot (O43294.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    593..595
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q62219; propagated from
                     UniProtKB/Swiss-Prot (O43294.2); phosphorylation site"
     misc_feature    599..601
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q62219; propagated from
                     UniProtKB/Swiss-Prot (O43294.2); phosphorylation site"
     misc_feature    611..613
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O43294.2); phosphorylation site"
     misc_feature    617..619
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O43294.2); phosphorylation site"
     misc_feature    644..682
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="propagated from UniProtKB/Swiss-Prot (O43294.2);
                     Region: LD motif 4"
     misc_feature    1244..1246
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O43294.2); phosphorylation site"
     misc_feature    1256..1258
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O43294.2); phosphorylation site"
     regulatory      1783..1788
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="hexamer: CATAAA"
     polyA_site      1805
                     /gene="TGFB1I1"
                     /gene_synonym="ARA55; HIC-5; HIC5; TSC-5"
                     /note="major polyA site"
ORIGIN
        1 gccctgttcg ccccgcgcca ccggcccgcg ccccgccatg gaggacctgg atgccctgct
       61 ctctgacctg gagactacca cctcgcacat gccaaggtca ggggctccca aagagcgccc
      121 tgcggagcct ctcacccctc ccccatccta tggccaccag ccacagacag ggtctgggga
      181 gtcttcagga gcctcggggg acaaggacca cctgtacagc acggtatgca agcctcggtc
      241 cccaaagcct gcagccccgg cggcccctcc attctcctct tccagcggtg tcttgggtac
      301 cgggctctgt gagctagatc ggttgcttca ggaacttaat gccactcagt tcaacatcac
      361 agatgaaatc atgtctcagt tcccatctag caaggtggct tcaggagagc agaaggagga
      421 ccagtctgaa gataagaaaa gacccagcct cccttccagc ccgtctcctg gcctcccaaa
      481 ggcttctgcc acctcagcca ctctggagct ggatagactg atggcctcac tctctgactt
      541 ccgcgttcaa aaccatcttc cagcctctgg gccaactcag ccaccggtgg tgagctccac
      601 aaatgagggc tccccatccc caccagagcc gactggcaag ggcagcctag acaccatgct
      661 ggggctgctg cagtccgacc tcagccgccg gggtgttccc acccaggcca aaggcctctg
      721 tggctcctgc aataaaccta ttgctgggca agtggtgacg gctctgggcc gcgcctggca
      781 ccccgagcac ttcgtttgcg gaggctgttc caccgccctg ggaggcagca gcttcttcga
      841 gaaggatgga gcccccttct gccccgagtg ctactttgag cgcttctcgc caagatgtgg
      901 cttctgcaac cagcccatcc gacacaagat ggtgaccgcc ttgggcactc actggcaccc
      961 agagcatttc tgctgcgtca gttgcgggga gcccttcgga gatgagggtt tccacgagcg
     1021 cgagggccgc ccctactgcc gccgggactt cctgcagctg ttcgccccgc gctgccaggg
     1081 ctgccagggc cccatcctgg ataactacat ctcggcgctc agcgcgctct ggcacccgga
     1141 ctgtttcgtc tgcagggaat gcttcgcgcc cttctcggga ggcagctttt tcgagcacga
     1201 gggccgcccg ttgtgcgaga accacttcca cgcacgacgc ggctcgctgt gcgccacgtg
     1261 tggcctccct gtgaccggcc gctgcgtgtc ggccctgggt cgccgcttcc acccggacca
     1321 cttcacatgc accttctgcc tgcgcccgct caccaagggg tccttccagg agcgcgccgg
     1381 caagccctac tgccagccct gcttcctgaa gctcttcggc tgacagcccg ctcggctcgc
     1441 cctctccccc ggaggccgcg ccctcccgga aaagccgggt cctccagacc ccgaggcctt
     1501 gctctcagag cgggaggccc cacccactgg agagccccgc ccctaaggta ctatgagtcc
     1561 tcaggggtca agttcagaaa cggcccagcc agacctaaac ccacacgccc acaaagtgga
     1621 ttgcacacag acaagaactc ccgtgcgggc ctccactcta ttcccaccct tgagggagcc
     1681 cccttactgg gggagggtcc ttgcaattcc agcgaatcgg aggccaggcc aggacgtcct
     1741 tgctccctgc accctcactg ttctgtgcac tttttctacc tacataaaca cacgcattcc
     1801 acctc
//
LOCUS       NM_001042462            5508 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens trafficking protein particle complex subunit 5
            (TRAPPC5), transcript variant 3, mRNA.
ACCESSION   NM_001042462
VERSION     NM_001042462.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5508)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 5508)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5508)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 5508)
  AUTHORS   Kim JJ, Lipatova Z and Segev N.
  TITLE     TRAPP Complexes in Secretion and Autophagy
  JOURNAL   Front Cell Dev Biol 4, 20 (2016)
   PUBMED   27066478
  REMARK    Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5508)
  AUTHORS   Scrivens PJ, Noueihed B, Shahrzad N, Hul S, Brunet S and Sacher M.
  TITLE     C4orf41 and TTC-15 are mammalian TRAPP components with a role at an
            early stage in ER-to-Golgi trafficking
  JOURNAL   Mol Biol Cell 22 (12), 2083-2093 (2011)
   PUBMED   21525244
REFERENCE   6  (bases 1 to 5508)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CB155196.1, SRR1803617.155745.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000596148.3/ ENSP00000470262.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM841051.1, BU736689.1 and AC008763.9.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001042462.1.
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 1. Variants 1-3 encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5508
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..5508
                     /gene="TRAPPC5"
                     /gene_synonym="TRS31"
                     /note="trafficking protein particle complex subunit 5"
                     /db_xref="GeneID:126003"
                     /db_xref="HGNC:HGNC:23067"
     CDS             59..625
                     /gene="TRAPPC5"
                     /gene_synonym="TRS31"
                     /note="trafficking protein particle complex 5"
                     /codon_start=1
                     /product="trafficking protein particle complex subunit 5"
                     /protein_id="NP_001035927.1"
                     /db_xref="CCDS:CCDS42490.1"
                     /db_xref="GeneID:126003"
                     /db_xref="HGNC:HGNC:23067"
                     /translation="MEARFTRGKSALLERALARPRTEVSLSAFALLFSELVQHCQSRVF
                     SVAELQSRLAALGRQVGARVLDALVAREKGARRETKVLGALLFVKGAVWKALFGKEADK
                     LEQANDDARTFYIIEREPLINTYISVPKENSTLNCASFTAGIVEAVLTHSGFPAKVTAH
                     WHKGTTLMIKFEEAVIARDRALEGR"
     misc_feature    86..88
                     /gene="TRAPPC5"
                     /gene_synonym="TRS31"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IUR0.1); phosphorylation site"
     regulatory      636..641
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRAPPC5"
                     /gene_synonym="TRS31"
                     /note="hexamer: GATAAA"
     polyA_site      659
                     /gene="TRAPPC5"
                     /gene_synonym="TRS31"
                     /note="major polyA site"
     regulatory      832..837
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRAPPC5"
                     /gene_synonym="TRS31"
                     /note="hexamer: AATAAA"
     polyA_site      850
                     /gene="TRAPPC5"
                     /gene_synonym="TRS31"
     regulatory      5484..5489
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRAPPC5"
                     /gene_synonym="TRS31"
                     /note="hexamer: AATAAA"
     polyA_site      5508
                     /gene="TRAPPC5"
                     /gene_synonym="TRS31"
ORIGIN
        1 acggcgccgt aaagcagctc ggccgagcag actgctgcgg ttcctgggtg gcggcggcat
       61 ggaggcgcgc ttcacgcgcg ggaagtcggc gctgctggag cgcgcgctgg cgcggccgcg
      121 caccgaggtg agcctgagcg ccttcgcact gctgttctcc gagctggtac agcactgcca
      181 gagccgcgtc ttctccgtgg ccgagctgca gtcgcgcctg gccgcgctgg gccgccaggt
      241 gggcgcgcgc gtgctggatg cgctggtggc gcgcgaaaag ggtgcccggc gtgagaccaa
      301 ggtgctaggc gcgttgctct tcgtcaaggg cgccgtgtgg aaggcgctct tcggcaagga
      361 ggcggacaag ctggagcagg ccaacgatga cgcgcgcacc ttctacatca tcgagcgcga
      421 gccgctcatc aacacctaca tctccgtgcc caaggagaac agcacgctca actgcgccag
      481 cttcacggcg ggcatcgtgg aggcggtgct cacacacagc ggcttccctg ccaaggtcac
      541 ggcgcactgg cacaagggca ccacgctcat gatcaagttc gaggaggcag tcatcgctcg
      601 agaccgggcc ctggagggcc gctgaccctg ccggagataa aggatacaga gagcccctcc
      661 ccacgtgtgt cttgtgtctt gtgtggcggc cttagatcca ctcagtacct tgagccacag
      721 ccctgcccca ggctggggag ggaggccagg tccgaatgtg tttacagtag agtgggggcg
      781 ggtctggcca tagggttggg gggttgagtg agaccaggag tggtggggag aaataaaccc
      841 ggcaaaagga gttggtggga aatgctggca ggttctggaa tcacggttgg aggctgtctg
      901 caggctggag ggggcatggg gtcctgggag acgcatcagg ctgagacaga cgcctttaga
      961 ctgggggtgg gcaaactgcg caaagtgcca gatgggcaat attttatgcc atgtggtctt
     1021 tattattatt ttttttattt gttgagatag agtcttgctc tgtcgcccag gctggagtgc
     1081 agtggcacca tctcacctca ctgcaaacct ccaccttggg ttcacgtgat tctcctgcct
     1141 cagcttccca agtagctggg attacaggtg cctcccacca cacccggcta atttttgtat
     1201 ttttagtaga gatggggttt caccatgttg gtcaggctgg tctcgaactc ctcatctcag
     1261 gtgatccgcc cacttcagcc tcccaaagtg ctgggattac aggcgtgagc cactgctgtg
     1321 ccgccatgtg ctcttgcccc attactccgc tgatgtactg aatgcaacca cagacaacat
     1381 gtaaaggagt gggtgtcacc gtgtgcctag aaaacaggca gagggagatt gtttgccttc
     1441 ttccctcatt tattatattt ttcagagaca gggttttgtt ctgtcgccca ggctggagtg
     1501 cagtggcagc atctcggctt cggctcactg caagctccgc ctcccgggtt catgtcattc
     1561 tcctgcccca gcctcccgag tagctggaac tacaggtgcc caccaccaca cctggctaat
     1621 ttttcgtatt tttagtagag acggggtttc accatgttag ccaggatggt ctcgatctcc
     1681 tcacctcgtg atctgcccac ctcggcttcc caaagtgctg ggattacagg cgtgagccat
     1741 ggcgcccagc catgcccagc taatttttaa aaaatttttg tagagatggg ggctcttatt
     1801 aggttgccca ggctggtctc aaactcttgg cctcaagcaa tccttccacc ttggcctccg
     1861 taagtgctgg ggttacaggc gtgagccaaa tcaaagtgtg ttctgtagat cagcagtagc
     1921 agcatcaact gggagttggt ccataatgca gtctcaggcc caccccagag ctgctgaatc
     1981 tgagggtgca ttttagcgag gcccccaggg gattcctggg gaccttagat tgagatgcag
     2041 gctttagggt atcagaatca ccaggagggg ccacgtgcgg tggctcacgc ctgtaatccc
     2101 agcactttgg gaggctgagg caggtggatc acctgaagtc aggagttcga gaccagcctg
     2161 gctaacatgg caaaaccccg tctctactaa aaatagaaaa cattagccgg gtgtggtggc
     2221 acatgcctgt aatcccagct acttgggagg ctgaggcagg agaatcgctc caacccggga
     2281 ggtggaggtt gcagtgagcc gagattgcac cattgcactc cagcctgggc aacaagagcg
     2341 aaactccatc taaaaaacaa aaaggtcagg cgcggtggct cacgcctata atcccagcac
     2401 tttgggaggc cgaggcaggc ggatcacgag gtcaggagtt cgagccagcc tggccaatat
     2461 ggtgaaaccc tgtctctact aaaaatacaa aaattagctg ggcatggagg tgcattcctg
     2521 tagtcccagc tacctaattt tttgtatttt tagtagagat gaggtttcac tgtgttggcc
     2581 agtctggtca atactttaaa gttaatttta aagtccagga tgatacaaac acatttccct
     2641 tgttaaaaaa attttaaaat aagtggggtg cagtggtgca cacctggagt cccagctatt
     2701 caggaggccg aggcagaagg atcgcttgag gccaggggtt ggtgtccagc ctgggcaaca
     2761 tagtgagacc ttgtctaaaa gaatttgaaa taaggccagg cgtggcgact tatgtctgta
     2821 atcccagcac tttgagaggc cgaggtgggc agatcacttg aggccggaag tttgagacca
     2881 acctggtcaa catggcaaaa cccatcttta ctaaaaatac aaaaattagc tgggcgtggt
     2941 ggcaggcacc tgtaatccca gctacttggg aggctaaggc aggaggatca cttaaacctg
     3001 ggaggcggag gttgaagtga gccaagatca caccactggc actccagcct gagcaacaga
     3061 gtgagaccct gtcttaaaaa agaaaaaaaa agtaatgtat tacacctcag gcaattttcc
     3121 tttccctttt tgttcaccac acttggttcc tgataactcc tcctctcccc caaggaaagt
     3181 tcttccagat tttttggggg aaccatgatc caatcttccc tgcttccttt ccaccgcccc
     3241 ccagaatgtg aacagacagg tctgttcaga aaaggaactg cagggactgt cagctgggct
     3301 cccctcactg gttatgagaa gggccaaagg ggtcggtgtc acctctagat ttgtttagga
     3361 tgctctgttg gactgcctgg tggaccaggg ctgagggctt ggtcagggca gtctcagcca
     3421 tcctagcaag aggcattgag cagggtgggc ttcagcacac tggggagaag gtggcgtctc
     3481 taggatgaat gaaaccattg agcaaccacc acacatagcc ccagggctga tcctggaata
     3541 gctgttggct gttggaggtg gagggaggcg ccgggagagg gcttgggcag gatgatagcc
     3601 tgaatctgga atgaggggga ggcgtctagg gggccagcag atgcacaggt cttggggttt
     3661 ggggtctgga gttctggagg gaggtctggg cgtctgcaca gacacagaaa ccacagtcct
     3721 ggatggggga cggagggagg ggaacatggt gtctgagaag ctggatttca gagcaaaatg
     3781 caggacgctt tgggctaagc agccccaggc aggtcctctg agaccctggc gagaggggct
     3841 tccagggccg gccagggcag gggccattct tctgtccaga ggcggggctg tgagggatgt
     3901 cagagaaatc gggagggagg aagaggggct gcgggaattt gtaagctggg agtgcagggc
     3961 ccagggtctg ttcccacgcc ccatccccac cggccaccga gggtgagtta gggggcttga
     4021 ggagaaggga aaacgtttga acaagctgta gggttatgag gctgggcccg gggttggggc
     4081 aagggaggat gaagagaaag aagagcctgt ggttcggcag cttctgatca cagcagctct
     4141 aacttacggt gctctgggct gcaaggaagg tcttcccctg gaccctccag gtgggtgggt
     4201 gagaggaaga ggaggaggag gagccaggca ccagcccttg gtgagctggg caagcagcat
     4261 cagctcattt cacaggcagg ttccaaaaga agtcatgtgc ccatggtcac acagattaat
     4321 tattattatt attattattt agagatggag tctcactctg tcgcccaggc tggagtgcag
     4381 tggtgcgatc tcagatctca gcctcctggg ttcaagcaat tctcctgctt cagcctcctg
     4441 aatagttggg actataggca tccgccacca cacccagcta atttttgtat ttttagtgga
     4501 gacggggttt caccatgttg gccaggctgg tctggaactc ctgacctcaa gtgatctgcc
     4561 cgccttggcc tcccaaagtg ctaggattac aggcgtgagc caccgcacct ggctggcttt
     4621 ttctcttttc ttcttctttt tttttgagac aggttctcac tgtcgcccag gctgagagca
     4681 ggggcacaat cctcccacct cggcctccca agcagctggg accaagttgc ccatcactac
     4741 acctctagtt tttgtatttt ttgtagagat ggggcctcac tatgttgccc aggctggcct
     4801 caaactcctg aactcaagca gtcctcccac ctcagcctcc caaagcgctg ggatgacagg
     4861 catgagccac tgtgcgcagc tggctttggc cttttatctg agctggagga aacttctgga
     4921 aagggggcag tgaagagaga gccccgggcg gaggtgactg ctccagtcga ggcagtggca
     4981 gaaggggtga gcagtgagtg attgtgagcg ccgtttgaca gcagagccca ctggcatttc
     5041 ttatggtctt ggacctggag gtgttgtcag gggaaaggga agaggtgcaa tgaccccagt
     5101 gttggcctga gccactggta gaggagtgtg gagaggggac cctgtgctcc tggcctccct
     5161 cccgtggcct ccggcatggg tcgaccttgg ccgagcgtga ggctggtgcc acctcagcct
     5221 cccagaccct gagtagggtt aacacctcca gacccgaaat ggcctccggt tgaccgggcc
     5281 cactccccat cagcctgtcc agccagccag cacttactga gtgccttctg tgtactaagc
     5341 cctgctctgg gtacttccat gagtcaactc acgccctccc ggcctcaggg tgatccaccg
     5401 ccttccccta cagtattcca aggggccatt ggacctcaga ggcttcatgt cctgcacatt
     5461 ctccgtgtca tagagcagga aaaaataaaa acgggagatc gaattcta
//
LOCUS       NM_001042463            1423 bp    mRNA    linear   PRI 19-FEB-2023
DEFINITION  Homo sapiens transmembrane protein 80 (TMEM80), transcript variant
            2, mRNA.
ACCESSION   NM_001042463
VERSION     NM_001042463.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1423)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1423)
  AUTHORS   Li C, Jensen VL, Park K, Kennedy J, Garcia-Gonzalo FR, Romani M, De
            Mori R, Bruel AL, Gaillard D, Doray B, Lopez E, Riviere JB, Faivre
            L, Thauvin-Robinet C, Reiter JF, Blacque OE, Valente EM and Leroux
            MR.
  TITLE     MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition
            Zone
  JOURNAL   PLoS Biol 14 (3), e1002416 (2016)
   PUBMED   26982032
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1423)
  AUTHORS   Venkatesh B, Ravi V, Lee AP, Warren WC and Brenner S.
  TITLE     Basal vertebrates clarify the evolutionary history of
            ciliopathy-associated genes Tmem138 and Tmem216
  JOURNAL   Mol Biol Evol 30 (1), 62-65 (2013)
   PUBMED   22936720
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: HY111006.1, BI766097.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000397510.9/ ENSP00000380646.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131934.13.
            On Jun 18, 2020 this sequence version replaced NM_001042463.2.
            Transcript Variant: This variant (2) includes an alternate 3'
            terminal exon, compared to variant 5. It encodes isoform 2 which is
            shorter and has a distinct C-terminus, compared to isoform 5.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1423
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..1423
                     /gene="TMEM80"
                     /note="transmembrane protein 80"
                     /db_xref="GeneID:283232"
                     /db_xref="HGNC:HGNC:27453"
                     /db_xref="MIM:620248"
     CDS             13..444
                     /gene="TMEM80"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="transmembrane protein 80 isoform 2"
                     /protein_id="NP_001035928.3"
                     /db_xref="CCDS:CCDS41587.3"
                     /db_xref="GeneID:283232"
                     /db_xref="HGNC:HGNC:27453"
                     /db_xref="MIM:620248"
                     /translation="MAAPRRGRGSSTVLSSVPLQMLFYLSGTYYALYFLATLLMITYKS
                     QVFSYPHRYLVLDLALLFLMGILEAVRLYLGTRGNLTEAERPLAASLALTAGTALLSAH
                     FLLWQALVLWADWALSATLLALHGLEAVLQVVAIAAFTR"
     regulatory      1396..1401
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM80"
                     /note="hexamer: AATAAA"
     polyA_site      1423
                     /gene="TMEM80"
                     /note="major polyA site"
ORIGIN
        1 ggggcgggta agatggcggc cccgcggcga gggagaggat cctccacagt gctctcttca
       61 gttccccttc aaatgctgtt ttatctcagc ggaacgtact acgccctgta tttcctcgcc
      121 acgctcctga tgatcacgta taaaagtcag gtgttcagct atcctcaccg ctacctggtc
      181 ctcgatcttg ctctgctgtt tctgatgggg attctagaag cagttcggtt atacctgggc
      241 accaggggca acctgacaga ggctgagagg ccgctggccg ccagcctggc cctcacggct
      301 ggcaccgccc tcctctctgc ccacttcctg ctttggcagg ccctagtgtt gtgggcggac
      361 tgggccctca gcgccacgct cctggccctt cacggcctgg aggccgtcct gcaggtggtt
      421 gccatcgcgg ccttcaccag gtagctacgg acacccggga taccccacac tggggccctc
      481 ctcctgggcc tgaccagtcc cccagctgtc acctccccat tcctggacag gaagggcact
      541 tttcctagtg actggccata gatggttttg gatggttcca tctgttctgg caggagtggg
      601 agcaggagcc agggcagaac aaactgctgg aggccctggt gttgggaaca gctgcgggga
      661 gggtagggac cagacagaac tgccttcaag atgagtccca ggagcgcaca ctcagccctg
      721 tcagtggggt ctggctttag cagccaggcc tccacagacc cccatgggcc cccagggccg
      781 agagggagga cagagccctt cagaacagag gcctcatctc actgcatccc ccatcacccc
      841 ctagttcccc aatggtccta atttgtgttc tgagatccca gtttactccg tggccaggcc
      901 ccacctgtgt ttccaagtcg ggctggagac gcaggatggg gtaggccttg tgctctgagc
      961 aaccccagct ctgcctcaca ggcaggcagg cccggtgcaa gagtggactc tgggttccta
     1021 aagcaataaa tgcaaacaag ccaacagctc tgctgcctag caatttccat cttagccaca
     1081 cttctccctt caggggcttc ggaggagagg tcagggctaa ggccggggat gagactgcag
     1141 gagagagagc agcggagggc cacattcgga gcctccgtcc actccagttt tatcagcttt
     1201 tgccttttgc acggagtgct aaacaaattc tagctctgtg tttttttccc attcccagat
     1261 ttactatcag ttctccttaa aaagtatcta agctgttaca gtagctttcc cttcacttga
     1321 ttctattgtg tgttttctat gtttggaata attacaccca aatatctaga tattttctct
     1381 tcaccgcatt ttgtaaataa agagatgtgt atgcctccct gaa
//
LOCUS       NM_001042472            1960 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens abhydrolase domain containing 12, lysophospholipase
            (ABHD12), transcript variant 1, mRNA.
ACCESSION   NM_001042472
VERSION     NM_001042472.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1960)
  AUTHORS   Igelman AD, Ku C, da Palma MM, Georgiou M, Schiff ER, Lam BL,
            Sankila EM, Ahn J, Pyers L, Vincent A, Ferraz Sallum JM, Zein WM, Oh
            JK, Maldonado RS, Ryu J, Tsang SH, Gorin MB, Webster AR, Michaelides
            M, Yang P and Pennesi ME.
  TITLE     Expanding the clinical phenotype in patients with disease causing
            variants associated with atypical Usher syndrome
  JOURNAL   Ophthalmic Genet 42 (6), 664-673 (2021)
   PUBMED   34223797
  REMARK    GeneRIF: Expanding the clinical phenotype in patients with disease
            causing variants associated with atypical Usher syndrome.
REFERENCE   2  (bases 1 to 1960)
  AUTHORS   Nguyen XT, Almushattat H, Strubbe I, Georgiou M, Li CHZ, van
            Schooneveld MJ, Joniau I, De Baere E, Florijn RJ, Bergen AA, Hoyng
            CB, Michaelides M, Leroy BP and Boon CJF.
  TITLE     The Phenotypic Spectrum of Patients with PHARC Syndrome Due to
            Variants in ABHD12: An Ophthalmic Perspective
  JOURNAL   Genes (Basel) 12 (9), 1404 (2021)
   PUBMED   34573385
  REMARK    GeneRIF: The Phenotypic Spectrum of Patients with PHARC Syndrome Due
            to Variants in ABHD12: An Ophthalmic Perspective. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 1960)
  AUTHORS   Singh S, Joshi A and Kamat SS.
  TITLE     Mapping the Neuroanatomy of ABHD16A, ABHD12, and
            Lysophosphatidylserines Provides New Insights into the
            Pathophysiology of the Human Neurological Disorder PHARC
  JOURNAL   Biochemistry 59 (24), 2299-2311 (2020)
   PUBMED   32462874
  REMARK    GeneRIF: Mapping the Neuroanatomy of ABHD16A, ABHD12, and
            Lysophosphatidylserines Provides New Insights into the
            Pathophysiology of the Human Neurological Disorder PHARC.
REFERENCE   4  (bases 1 to 1960)
  AUTHORS   Jun S, Kim SW, Lim JY and Park SJ.
  TITLE     ABHD12 Knockdown Suppresses Breast Cancer Cell Proliferation,
            Migration and Invasion
  JOURNAL   Anticancer Res 40 (5), 2601-2611 (2020)
   PUBMED   32366405
  REMARK    GeneRIF: ABHD12 plays a crucial role in cell proliferation,
            migration, and invasion of breast cancer cells.
REFERENCE   5  (bases 1 to 1960)
  AUTHORS   Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song
            J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X and Ling J.
  TITLE     A novel ABHD12 nonsense variant in Usher syndrome type 3 family with
            genotype-phenotype spectrum review
  JOURNAL   Gene 704, 113-120 (2019)
   PUBMED   30974196
  REMARK    GeneRIF: Findings in Usher Syndrome predicted the potential function
            of this gene in the development of hearing and vision loss,
            particularly with regard to impaired signal transmission, and
            identified a novel nonsense variant to expand the variant spectrum
            in ABHD12. Review article
REFERENCE   6  (bases 1 to 1960)
  AUTHORS   Navia-Paldanius D, Savinainen JR and Laitinen JT.
  TITLE     Biochemical and pharmacological characterization of human
            alpha/beta-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12)
  JOURNAL   J Lipid Res 53 (11), 2413-2424 (2012)
   PUBMED   22969151
  REMARK    GeneRIF: Data show that the three hydrolases are genuine MAG
            lipases; medium-chain saturated MAGs were the best substrates for
            hABHD6 and hMAGL, whereas hABHD12 preferred the 1 (3)- and 2-isomers
            of arachidonoylglycerol.
REFERENCE   7  (bases 1 to 1960)
  AUTHORS   Eisenberger T, Slim R, Mansour A, Nauck M, Nurnberg G, Nurnberg P,
            Decker C, Dafinger C, Ebermann I, Bergmann C and Bolz HJ.
  TITLE     Targeted next-generation sequencing identifies a homozygous nonsense
            mutation in ABHD12, the gene underlying PHARC, in a family
            clinically diagnosed with Usher syndrome type 3
  JOURNAL   Orphanet J Rare Dis 7, 59 (2012)
   PUBMED   22938382
  REMARK    GeneRIF: After the identification of the ABHD12 mutation in this
            family, one patient underwent neurological examination which
            revealed ataxia, but no polyneuropathy Publication Status:
            Online-Only
REFERENCE   8  (bases 1 to 1960)
  AUTHORS   Chambers JC, Zhang W, Sehmi J, Li X, Wass MN, Van der Harst P, Holm
            H, Sanna S, Kavousi M, Baumeister SE, Coin LJ, Deng G, Gieger C,
            Heard-Costa NL, Hottenga JJ, Kuhnel B, Kumar V, Lagou V, Liang L,
            Luan J, Vidal PM, Mateo Leach I, O'Reilly PF, Peden JF, Rahmioglu N,
            Soininen P, Speliotes EK, Yuan X, Thorleifsson G, Alizadeh BZ,
            Atwood LD, Borecki IB, Brown MJ, Charoen P, Cucca F, Das D, de Geus
            EJ, Dixon AL, Doring A, Ehret G, Eyjolfsson GI, Farrall M, Forouhi
            NG, Friedrich N, Goessling W, Gudbjartsson DF, Harris TB,
            Hartikainen AL, Heath S, Hirschfield GM, Hofman A, Homuth G,
            Hypponen E, Janssen HL, Johnson T, Kangas AJ, Kema IP, Kuhn JP, Lai
            S, Lathrop M, Lerch MM, Li Y, Liang TJ, Lin JP, Loos RJ, Martin NG,
            Moffatt MF, Montgomery GW, Munroe PB, Musunuru K, Nakamura Y,
            O'Donnell CJ, Olafsson I, Penninx BW, Pouta A, Prins BP, Prokopenko
            I, Puls R, Ruokonen A, Savolainen MJ, Schlessinger D, Schouten JN,
            Seedorf U, Sen-Chowdhry S, Siminovitch KA, Smit JH, Spector TD, Tan
            W, Teslovich TM, Tukiainen T, Uitterlinden AG, Van der Klauw MM,
            Vasan RS, Wallace C, Wallaschofski H, Wichmann HE, Willemsen G,
            Wurtz P, Xu C, Yerges-Armstrong LM, Abecasis GR, Ahmadi KR, Boomsma
            DI, Caulfield M, Cookson WO, van Duijn CM, Froguel P, Matsuda K,
            McCarthy MI, Meisinger C, Mooser V, Pietilainen KH, Schumann G,
            Snieder H, Sternberg MJ, Stolk RP, Thomas HC, Thorsteinsdottir U,
            Uda M, Waeber G, Wareham NJ, Waterworth DM, Watkins H, Whitfield JB,
            Witteman JC, Wolffenbuttel BH, Fox CS, Ala-Korpela M, Stefansson K,
            Vollenweider P, Volzke H, Schadt EE, Scott J, Jarvelin MR, Elliott P
            and Kooner JS.
  CONSRTM   Alcohol Genome-wide Association (AlcGen) Consortium; Diabetes
            Genetics Replication and Meta-analyses (DIAGRAM+) Study; Genetic
            Investigation of Anthropometric Traits (GIANT) Consortium; Global
            Lipids Genetics Consortium; Genetics of Liver Disease (GOLD)
            Consortium; International Consortium for Blood Pressure (ICBP-GWAS);
            Meta-analyses of Glucose and Insulin-Related Traits Consortium
            (MAGIC)
  TITLE     Genome-wide association study identifies loci influencing
            concentrations of liver enzymes in plasma
  JOURNAL   Nat Genet 43 (11), 1131-1138 (2011)
   PUBMED   22001757
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1960)
  AUTHORS   Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, M'zahem A,
            Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C,
            Assoum M, Tazir M, Klockgether T, Hamri A, Steen VM, Boman H,
            Bindoff LA, Koenig M and Knappskog PM.
  TITLE     Mutations in ABHD12 cause the neurodegenerative disease PHARC: An
            inborn error of endocannabinoid metabolism
  JOURNAL   Am J Hum Genet 87 (3), 410-417 (2010)
   PUBMED   20797687
  REMARK    GeneRIF: Mutations in the ABHD12 gene cause polyneuropathy, hearing
            loss, ataxia, retinitis pigmentosa, and cataract disease.
REFERENCE   10  (bases 1 to 1960)
  AUTHORS   Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M,
            Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow
            KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE,
            Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C,
            Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee
            CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A,
            Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA,
            Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN,
            Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden
            JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM,
            Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor
            S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh
            VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry
            D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R,
            Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay
            H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce
            CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore
            N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC,
            Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL,
            Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM,
            Bentley DR, Beck S and Rogers J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.136703.1,
            SRR1163655.66924.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000339157.10/ ENSP00000341408.5
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ961739.1, AK075023.1 and
            BQ672998.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001042472.2.
            Summary: This gene encodes an enzyme that catalyzes the hydrolysis
            of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid
            transmitter that acts on cannabinoid receptors, CB1 and CB2. The
            endocannabinoid system is involved in a wide range of physiological
            processes, including neurotransmission, mood, appetite, pain
            appreciation, addiction behavior, and inflammation. Mutations in
            this gene are associated with the neurodegenerative disease, PHARC
            (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and
            cataract), resulting from an inborn error of endocannabinoid
            metabolism. Alternatively spliced transcript variants encoding
            different isoforms have been noted for this gene.[provided by
            RefSeq, Jan 2011].
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes the shorter isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1960
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.21"
     gene            1..1960
                     /gene="ABHD12"
                     /gene_synonym="ABHD12A; BEM46L2; C20orf22; dJ965G21.2;
                     hABHD12; PHARC"
                     /note="abhydrolase domain containing 12, lysophospholipase"
                     /db_xref="GeneID:26090"
                     /db_xref="HGNC:HGNC:15868"
                     /db_xref="MIM:613599"
     misc_feature    22..24
                     /gene="ABHD12"
                     /gene_synonym="ABHD12A; BEM46L2; C20orf22; dJ965G21.2;
                     hABHD12; PHARC"
                     /note="upstream in-frame stop codon"
     CDS             133..1329
                     /gene="ABHD12"
                     /gene_synonym="ABHD12A; BEM46L2; C20orf22; dJ965G21.2;
                     hABHD12; PHARC"
                     /EC_number="3.1.1.23"
                     /note="isoform a is encoded by transcript variant 1;
                     monoacylglycerol lipase ABHD12; abhydrolase
                     domain-containing protein 12; 2-arachidonoylglycerol
                     hydrolase ABHD12; oxidized phosphatidylserine lipase
                     ABHD12; lysophosphatidylserine lipase ABHD12"
                     /codon_start=1
                     /product="lysophosphatidylserine lipase ABHD12 isoform a"
                     /protein_id="NP_001035937.1"
                     /db_xref="CCDS:CCDS42857.1"
                     /db_xref="GeneID:26090"
                     /db_xref="HGNC:HGNC:15868"
                     /db_xref="MIM:613599"
                     /translation="MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGP
                     AAAEPRCAADAGMKRALGRRKGVWLRLRKILFCVLGLYIAIPFLIKLCPGIQAKLIFLN
                     FVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWYEDA
                     LASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTY
                     DALHVFDWIKARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREE
                     AKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKHISCPLLILHAEDDPVVPFQL
                     GRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILREFLGKSEPEHQH"
     misc_feature    355..417
                     /gene="ABHD12"
                     /gene_synonym="ABHD12A; BEM46L2; C20orf22; dJ965G21.2;
                     hABHD12; PHARC"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N2K0.2);
                     transmembrane region"
     misc_feature    499..501
                     /gene="ABHD12"
                     /gene_synonym="ABHD12A; BEM46L2; C20orf22; dJ965G21.2;
                     hABHD12; PHARC"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8N2K0.2); glycosylation site"
     regulatory      1940..1945
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABHD12"
                     /gene_synonym="ABHD12A; BEM46L2; C20orf22; dJ965G21.2;
                     hABHD12; PHARC"
                     /note="hexamer: AATAAA"
     polyA_site      1960
                     /gene="ABHD12"
                     /gene_synonym="ABHD12A; BEM46L2; C20orf22; dJ965G21.2;
                     hABHD12; PHARC"
                     /note="major polyA site"
ORIGIN
        1 gcagcggcct gggctgggat gtgaggagcg gcgggttccg ggctccgggc tctgggtggc
       61 ggcggctgtg agcggcggca ctgcggcgca ggccagcggg cgccgtcggc ggctggccct
      121 gtcggccgcg ggatgaggaa gcggaccgag cccgtcgcct tggagcatga gcgctgcgcc
      181 gccgcgggct cgtcctcctc cggctcggcc gccgcggcgc tggacgccga ctgccgcctg
      241 aagcagaacc tacgcctgac gggcccggcg gcggctgagc cgcgctgcgc agccgacgcg
      301 ggaatgaagc gggcgctggg caggcgaaag ggcgtgtggt tgcgcctgag gaagatactt
      361 ttctgtgttt tggggttgta cattgccatt ccatttctca tcaaactatg tcctggaata
      421 caggccaaac tgattttctt gaatttcgta agagttccct atttcattga tttgaaaaaa
      481 ccacaggatc aaggtttgaa tcacacgtgt aactactacc tgcagccaga ggaagacgtg
      541 accattggag tctggcacac cgtccctgca gtctggtgga agaacgccca aggcaaagac
      601 cagatgtggt atgaggatgc cttggcttcc agccacccta tcattctgta cctgcatggg
      661 aacgcaggta ccagaggagg cgaccaccgc gtggagcttt acaaggtgct gagttccctt
      721 ggttaccatg tggtcacctt tgactacaga ggttggggtg actcagtggg aacgccatct
      781 gagcggggca tgacctatga cgcactccac gtttttgact ggatcaaagc aagaagtggt
      841 gacaaccccg tgtacatctg gggccactct ctgggcactg gcgtggcgac aaatctggtg
      901 cggcgcctct gtgagcgaga gacgcctcca gatgccctta tattggaatc tccattcact
      961 aatatccgcg aagaagctaa gagccatcca ttttcagtga tatatcgata cttccctggg
     1021 tttgactggt tcttccttga tcctattaca agtagtggaa ttaaatttgc aaatgatgaa
     1081 aacgtgaagc acatctcctg tcccctgctc atcctgcacg ctgaggacga cccggtggtg
     1141 cccttccagc ttggcagaaa gctctatagc atcgccgcac cagctcgaag cttccgagat
     1201 ttcaaagttc agtttgtgcc ctttcattca gaccttggct acaggcacaa atacatttac
     1261 aagagccctg agctgccacg gatactgagg gaattcctgg ggaagtcgga gcctgagcac
     1321 cagcactgag cctggccgtg ggaaggaagc atgaagacct ctgccctcct cccgttttcc
     1381 tccagtcagc agcccggtat cctgaagccc cggggggccg gcacctgcaa tgctcaggag
     1441 cccagctcgc acctggagag cacctcagat cccaggcggg gaggcccctg caggcctgca
     1501 gtgcccggag gcctgagcat ggctgtgtgg aaagcgtggg tggcaggcat gtggctctcc
     1561 ttgccgcccc tcaacctgag atcttgttgg gagacttaat ggcagcaggc agccatcact
     1621 gcctgcttga tgctgcactg agctggacag ggggagtccg ggcaggggac tcttggggct
     1681 cgggaccatg ctgagctttt tggcaccacc cacagagaac gtggggtcca ggttctttct
     1741 gcaccttccc agcacatgca gaatgactcc agtggttcca tcgtcccctc ctgccctgtg
     1801 tacctgcttg cctttctcag ctgccccacc tcccctgggc tggcccactc acccacagtg
     1861 gaagtgcccg ggatctgcac ttcctcccct ttcacctacc tgtacaccta acctggcctt
     1921 agactgagct ttatttaaga ataaaatcgt ggtggtggtc
//
LOCUS       NM_001042475            7373 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens centrosomal protein 85 like (CEP85L), transcript
            variant 1, mRNA.
ACCESSION   NM_001042475
VERSION     NM_001042475.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7373)
  AUTHORS   Poursaei E, Daneshmandpour Y, Aghaei Moghadam E, Abolghasemi M,
            Jamshidi J, Baradaran B, Asadi M, Kazeminasab S and Emamalizadeh B.
  TITLE     LRP8 (rs5177) and CEP85L (rs11756438) are contributed to
            schizophrenia susceptibility in Iranian population
  JOURNAL   Psychiatr Genet 30 (6), 162-165 (2020)
   PUBMED   33079740
  REMARK    GeneRIF: LRP8 (rs5177) and CEP85L (rs11756438) are contributed to
            schizophrenia susceptibility in Iranian population.
REFERENCE   2  (bases 1 to 7373)
  AUTHORS   Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, Wu MF, Chang
            YC, Porter BE, Jansen LA, Sebire G, Deconinck N, Fan WL, Su SC,
            Chung WH, Almanza Fuerte EP, Mehaffey MG, Ng CC, Chan CK, Lim KS,
            Leventer RJ, Lockhart PJ, Riney K, Damiano JA, Hildebrand MS, Mirzaa
            GM, Dobyns WB, Berkovic SF, Scheffer IE, Tsai JW and Mefford HC.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior
            Predominant Lissencephaly
  JOURNAL   Neuron 106 (2), 237-245 (2020)
   PUBMED   32097630
  REMARK    GeneRIF: Pathogenic Variants in CEP85L Cause Sporadic and Familial
            Posterior Predominant Lissencephaly.
REFERENCE   3  (bases 1 to 7373)
  AUTHORS   Kodani A, Kenny C, Lai A, Gonzalez DM, Stronge E, Sejourne GM,
            Isacco L, Partlow JN, O'Donnell A, McWalter K, Byrne AB, Barkovich
            AJ, Yang E, Hill RS, Gawlinski P, Wiszniewski W, Cohen JS, Fatemi
            SA, Baranano KW, Sahin M, Vossler DG, Yuskaitis CJ and Walsh CA.
  TITLE     Posterior Neocortex-Specific Regulation of Neuronal Migration by
            CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5
  JOURNAL   Neuron 106 (2), 246-255 (2020)
   PUBMED   32097629
  REMARK    GeneRIF: Posterior Neocortex-Specific Regulation of Neuronal
            Migration by CEP85L Identifies Maternal Centriole-Dependent
            Activation of CDK5.
REFERENCE   4  (bases 1 to 7373)
  AUTHORS   Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann
            TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby
            A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y,
            Tarasov KV, Dorr M, Muller-Nurasyid M, Lahtinen AM, Nolte IM, Smith
            AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D,
            Lyytikainen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro
            P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S, Kumari M,
            Morris RW, Naluai AT, Padmanabhan S, Kluttig A, Strohmer B,
            Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K,
            Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso
            A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane PW,
            Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J, Smith JG,
            Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella M, Zelante
            L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polasek O, Wright AF,
            Griffin M, Daly MJ, Arnar DO, Holm H, Thorsteinsdottir U, Denny JC,
            Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O'Donnell CJ,
            Yin X, Bobbo M, D'Adamo AP, Iorio A, Sinagra G, Carracedo A,
            Cummings SR, Nalls MA, Jula A, Kontula KK, Marjamaa A, Oikarinen L,
            Perola M, Porthan K, Erbel R, Hoffmann P, Jockel KH, Kalsch H,
            Nothen MM, den Hoed M, Loos RJ, Thelle DS, Gieger C, Meitinger T,
            Perz S, Peters A, Prucha H, Sinner MF, Waldenberger M, de Boer RA,
            Franke L, van der Vleuten PA, Beckmann BM, Martens E, Bardai A,
            Hofman N, Wilde AA, Behr ER, Dalageorgou C, Giudicessi JR,
            Medeiros-Domingo A, Barc J, Kyndt F, Probst V, Ghidoni A, Insolia R,
            Hamilton RM, Scherer SW, Brandimarto J, Margulies K, Moravec CE, del
            Greco M F, Fuchsberger C, O'Connell JR, Lee WK, Watt GC, Campbell H,
            Wild SH, El Mokhtari NE, Frey N, Asselbergs FW, Mateo Leach I, Navis
            G, van den Berg MP, van Veldhuisen DJ, Kellis M, Krijthe BP, Franco
            OH, Hofman A, Kors JA, Uitterlinden AG, Witteman JC, Kedenko L,
            Lamina C, Oostra BA, Abecasis GR, Lakatta EG, Mulas A, Orru M,
            Schlessinger D, Uda M, Markus MR, Volker U, Snieder H, Spector TD,
            Arnlov J, Lind L, Sundstrom J, Syvanen AC, Kivimaki M, Kahonen M,
            Mononen N, Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M,
            Nicolaides AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F,
            Whincup PH, Hingorani AD, Schott JJ, Bezzina CR, Ingelsson E,
            Ferrucci L, Gasparini P, Wilson JF, Rudan I, Franke A, Muhleisen TW,
            Pramstaller PP, Lehtimaki TJ, Paterson AD, Parsa A, Liu Y, van Duijn
            CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix SB, Sanna
            S, Ritchie MD, Stricker BH, Stefansson K, Boyer LA, Cappola TP,
            Olsen JV, Lage K, Schwartz PJ, Kaab S, Chakravarti A, Ackerman MJ,
            Pfeufer A, de Bakker PI and Newton-Cheh C.
  CONSRTM   CARe Consortium; COGENT Consortium; DCCT/EDIC; eMERGE Consortium;
            HRGEN Consortium
  TITLE     Genetic association study of QT interval highlights role for calcium
            signaling pathways in myocardial repolarization
  JOURNAL   Nat Genet 46 (8), 826-836 (2014)
   PUBMED   24952745
REFERENCE   5  (bases 1 to 7373)
  AUTHORS   Ritchie MD, Denny JC, Zuvich RL, Crawford DC, Schildcrout JS,
            Bastarache L, Ramirez AH, Mosley JD, Pulley JM, Basford MA, Bradford
            Y, Rasmussen LV, Pathak J, Chute CG, Kullo IJ, McCarty CA, Chisholm
            RL, Kho AN, Carlson CS, Larson EB, Jarvik GP, Sotoodehnia N, Manolio
            TA, Li R, Masys DR, Haines JL and Roden DM.
  CONSRTM   Cohorts for Heart and Aging Research in Genomic Epidemiology
            (CHARGE) QRS Group
  TITLE     Genome- and phenome-wide analyses of cardiac conduction identifies
            markers of arrhythmia risk
  JOURNAL   Circulation 127 (13), 1377-1385 (2013)
   PUBMED   23463857
REFERENCE   6  (bases 1 to 7373)
  AUTHORS   Jakobsen L, Vanselow K, Skogs M, Toyoda Y, Lundberg E, Poser I,
            Falkenby LG, Bennetzen M, Westendorf J, Nigg EA, Uhlen M, Hyman AA
            and Andersen JS.
  TITLE     Novel asymmetrically localizing components of human centrosomes
            identified by complementary proteomics methods
  JOURNAL   EMBO J 30 (8), 1520-1535 (2011)
   PUBMED   21399614
REFERENCE   7  (bases 1 to 7373)
  AUTHORS   Eijgelsheim M, Newton-Cheh C, Sotoodehnia N, de Bakker PI, Muller M,
            Morrison AC, Smith AV, Isaacs A, Sanna S, Dorr M, Navarro P,
            Fuchsberger C, Nolte IM, de Geus EJ, Estrada K, Hwang SJ, Bis JC,
            Ruckert IM, Alonso A, Launer LJ, Hottenga JJ, Rivadeneira F,
            Noseworthy PA, Rice KM, Perz S, Arking DE, Spector TD, Kors JA,
            Aulchenko YS, Tarasov KV, Homuth G, Wild SH, Marroni F, Gieger C,
            Licht CM, Prineas RJ, Hofman A, Rotter JI, Hicks AA, Ernst F, Najjar
            SS, Wright AF, Peters A, Fox ER, Oostra BA, Kroemer HK, Couper D,
            Volzke H, Campbell H, Meitinger T, Uda M, Witteman JC, Psaty BM,
            Wichmann HE, Harris TB, Kaab S, Siscovick DS, Jamshidi Y,
            Uitterlinden AG, Folsom AR, Larson MG, Wilson JF, Penninx BW,
            Snieder H, Pramstaller PP, van Duijn CM, Lakatta EG, Felix SB,
            Gudnason V, Pfeufer A, Heckbert SR, Stricker BH, Boerwinkle E and
            O'Donnell CJ.
  TITLE     Genome-wide association analysis identifies multiple loci related to
            resting heart rate
  JOURNAL   Hum Mol Genet 19 (19), 3885-3894 (2010)
   PUBMED   20639392
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 7373)
  AUTHORS   Vasan RS, Glazer NL, Felix JF, Lieb W, Wild PS, Felix SB, Watzinger
            N, Larson MG, Smith NL, Dehghan A, Grosshennig A, Schillert A,
            Teumer A, Schmidt R, Kathiresan S, Lumley T, Aulchenko YS, Konig IR,
            Zeller T, Homuth G, Struchalin M, Aragam J, Bis JC, Rivadeneira F,
            Erdmann J, Schnabel RB, Dorr M, Zweiker R, Lind L, Rodeheffer RJ,
            Greiser KH, Levy D, Haritunians T, Deckers JW, Stritzke J, Lackner
            KJ, Volker U, Ingelsson E, Kullo I, Haerting J, O'Donnell CJ,
            Heckbert SR, Stricker BH, Ziegler A, Reffelmann T, Redfield MM,
            Werdan K, Mitchell GF, Rice K, Arnett DK, Hofman A, Gottdiener JS,
            Uitterlinden AG, Meitinger T, Blettner M, Friedrich N, Wang TJ,
            Psaty BM, van Duijn CM, Wichmann HE, Munzel TF, Kroemer HK, Benjamin
            EJ, Rotter JI, Witteman JC, Schunkert H, Schmidt H, Volzke H and
            Blankenberg S.
  TITLE     Genetic variants associated with cardiac structure and function: a
            meta-analysis and replication of genome-wide association data
  JOURNAL   JAMA 302 (2), 168-178 (2009)
   PUBMED   19584346
  REMARK    GeneRIF: Meta-analysis and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   9  (bases 1 to 7373)
  AUTHORS   Newton-Cheh C, Eijgelsheim M, Rice KM, de Bakker PI, Yin X, Estrada
            K, Bis JC, Marciante K, Rivadeneira F, Noseworthy PA, Sotoodehnia N,
            Smith NL, Rotter JI, Kors JA, Witteman JC, Hofman A, Heckbert SR,
            O'Donnell CJ, Uitterlinden AG, Psaty BM, Lumley T, Larson MG and
            Stricker BH.
  TITLE     Common variants at ten loci influence QT interval duration in the
            QTGEN Study
  JOURNAL   Nat Genet 41 (4), 399-406 (2009)
   PUBMED   19305408
REFERENCE   10  (bases 1 to 7373)
  AUTHORS   Scanlan MJ, Gout I, Gordon CM, Williamson B, Stockert E, Gure AO,
            Jager D, Chen YT, Mackay A, O'Hare MJ and Old LJ.
  TITLE     Humoral immunity to human breast cancer: antigen definition and
            quantitative analysis of mRNA expression
  JOURNAL   Cancer Immun 1, 4 (2001)
   PUBMED   12747765
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.66579.1,
            SRR1803612.273934.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000368491.8/ ENSP00000357477.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC048977.1, BC064835.1, AF308284.1, AL589993.5 and BC045657.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001042475.2.
            Summary: The protein encoded by this gene was identified as a
            breast cancer antigen. Nothing more is known of its function at
            this time. Three transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, May 2010].
            Transcript Variant: This variant (1) represents the longest
            transcript.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7373
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.31"
     gene            1..7373
                     /gene="CEP85L"
                     /gene_synonym="bA57K17.2; C6orf204; LIS10; NY-BR-15"
                     /note="centrosomal protein 85 like"
                     /db_xref="GeneID:387119"
                     /db_xref="HGNC:HGNC:21638"
                     /db_xref="MIM:618865"
     misc_feature    188..190
                     /gene="CEP85L"
                     /gene_synonym="bA57K17.2; C6orf204; LIS10; NY-BR-15"
                     /note="upstream in-frame stop codon"
     CDS             323..2740
                     /gene="CEP85L"
                     /gene_synonym="bA57K17.2; C6orf204; LIS10; NY-BR-15"
                     /note="isoform a is encoded by transcript variant 1;
                     serologically defined breast cancer antigen NY-BR-15;
                     centrosomal protein of 85 kDa-like; centrosomal protein
                     85kDa-like"
                     /codon_start=1
                     /product="centrosomal protein of 85 kDa-like isoform a"
                     /protein_id="NP_001035940.1"
                     /db_xref="CCDS:CCDS43498.1"
                     /db_xref="GeneID:387119"
                     /db_xref="HGNC:HGNC:21638"
                     /db_xref="MIM:618865"
                     /translation="MWGRFLAPEASGRDSPGGARSFPAGPDYSSAWLPANESLWQATTV
                     PSNHRNNHIRRHSIASDSGDTGIGTSCSDSVEDHSTSSGTLSFKPSQSLITLPTAHVMP
                     SNSSASISKLRESLTPDGSKWSTSLMQTLGNHSRGEQDSSLDMKDFRPLRKWSSLSKLT
                     APDNCGQGGTVCREESRNGLEKIGKAKALTSQLRTIGPSCLHDSMEMLRLEDKEINKKR
                     SSTLDCKYKFESCSKEDFRASSSTLRRQPVDMTYSALPESKPIMTSSEAFEPPKYLMLG
                     QQAVGGVPIQPSVRTQMWLTEQLRTNPLEGRNTEDSYSLAPWQQQQIEDFRQGSETPMQ
                     VLTGSSRQSYSPGYQDFSKWESMLKIKEGLLRQKEIVIDRQKQQITHLHERIRDNELRA
                     QHAMLGHYVNCEDSYVASLQPQYENTSLQTPFSEESVSHSQQGEFEQKLASTEKEVLQL
                     NEFLKQRLSLFSEEKKKLEEKLKTRDRYISSLKKKCQKESEQNKEKQRRIETLEKYLAD
                     LPTLDDVQSQSLQLQILEEKNKNLQEALIDTEKKLEEIKKQCQDKETQLICQKKKEKEL
                     VTTVQSLQQKVERCLEDGIRLPMLDAKQLQNENDNLRQQNETASKIIDSQQDEIDRMIL
                     EIQSMQGKLSKEKLTTQKMMEELEKKERNVQRLTKALLENQRQTDETCSLLDQGQEPDQ
                     SRQQTVLSKRPLFDLTVIDQLFKEMSCCLFDLKALCSILNQRAQGKEPNLSLLLGIRSM
                     NCSAEETENDHSTETLTKKLSDVCQLRRDIDELRTTISDRYAQDMGDNCITQ"
     misc_feature    323..403
                     /gene="CEP85L"
                     /gene_synonym="bA57K17.2; C6orf204; LIS10; NY-BR-15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SZL2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    365..367
                     /gene="CEP85L"
                     /gene_synonym="bA57K17.2; C6orf204; LIS10; NY-BR-15"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5SZL2.1); phosphorylation site"
     misc_feature    470..589
                     /gene="CEP85L"
                     /gene_synonym="bA57K17.2; C6orf204; LIS10; NY-BR-15"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5SZL2.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    941..943
                     /gene="CEP85L"
                     /gene_synonym="bA57K17.2; C6orf204; LIS10; NY-BR-15"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5SZL2.1); phosphorylation site"
     misc_feature    2342..2347
                     /gene="CEP85L"
                     /gene_synonym="bA57K17.2; C6orf204; LIS10; NY-BR-15"
                     /note="Breakpoint for translocation to form the
                     CEP85L-PDGFRB fusion protein; propagated from
                     UniProtKB/Swiss-Prot (Q5SZL2.1); other site"
     regulatory      7353..7358
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CEP85L"
                     /gene_synonym="bA57K17.2; C6orf204; LIS10; NY-BR-15"
                     /note="hexamer: AATAAA"
     polyA_site      7373
                     /gene="CEP85L"
                     /gene_synonym="bA57K17.2; C6orf204; LIS10; NY-BR-15"
                     /note="major polyA site"
ORIGIN
        1 agagaacccg cagctgcaac ttcgcctgga gcctttgagc ctgggctcag ccggggatct
       61 agcagccgtc accgccgagt cgccgcttcc ccggcgcggg cctcagccca gccggcttgg
      121 ccatggcagg cgccggcagt gcggcgaatc tggcccctgc gctccccgcc cgtagctgag
      181 cagccgttaa ccagccatcc cgcctttcct cctgcccgtg tcgccgaggc ccacgctccg
      241 cgcaagtttc cgccgccgaa gaagcaggag gacggacgtg aggagtcggg cgtccctggc
      301 ccacccggcc ctctcgcccg cgatgtgggg gcgcttcctg gctccggagg ccagcggccg
      361 ggatagcccc ggcggagccc gcagcttccc tgccggccca gattattcat cagcatggct
      421 acctgctaat gaatcattgt ggcaggccac aactgttcca tctaaccatc gaaataacca
      481 tatcaggaga cacagtatag cttctgacag tggagacact ggcattggaa cttcctgttc
      541 tgatagcgtg gaagatcatt caacttcaag tggcacatta tcttttaagc ctagtcaatc
      601 attgattact cttcctactg cccatgtgat gccgtctaat tccagcgctt caatttccaa
      661 acttagggaa tcattgacac cagatggctc aaaatggagt acaagcctca tgcaaacatt
      721 gggaaaccac agtagggggg agcaggactc ttccctagac atgaaggact tccggccact
      781 tcggaaatgg tcatctttat ccaaactcac tgccccggat aactgtggcc agggtggcac
      841 tgtatgcaga gaagagtcaa ggaatggttt ggagaagata gggaaggcta aggctttaac
      901 atcacaactg aggacaattg ggcctagctg tttacatgat agtatggaga tgcttaggtt
      961 agaggacaag gaaataaata aaaaacggtc atcaactctg gactgcaagt ataaatttga
     1021 gagctgtagc aaggaggact ttagagcctc ttcctctact cttaggagac agcctgtaga
     1081 catgacatat agtgccttac ctgaaagcaa gcccattatg acaagctcag aggcttttga
     1141 acctccaaaa tatttaatgc ttggtcaaca ggcagtaggt ggagttccca ttcagccttc
     1201 cgtaaggact cagatgtggc ttacagagca gctgcggaca aatcctttgg aaggtagaaa
     1261 tacagaggat tcttacagtt tagctccttg gcaacagcag caaattgaag actttcgaca
     1321 aggaagtgaa acaccaatgc aggttttgac tggatcatct cgtcaaagtt attcacctgg
     1381 ctatcaggat ttcagtaagt gggaatcaat gttgaaaata aaagaaggac ttctaaggca
     1441 gaaagaaatt gtaatcgatc ggcagaagca acaaattacc cacctgcatg agaggataag
     1501 ggataatgaa ttacgggctc aacatgccat gttaggacat tatgtaaatt gtgaggattc
     1561 ttatgtggct agtttgcagc cacaatatga gaacacttca ctccagacac cattttcaga
     1621 ggaatcagtt tcccattccc aacaagggga atttgagcaa aagcttgcat ctactgagaa
     1681 agaagtttta cagcttaatg agtttctcaa acaaagacta agcctattta gtgaagagaa
     1741 gaagaaacta gaggaaaaac ttaaaactag agatcgatac atcagtagtc tgaaaaagaa
     1801 atgccagaag gaatctgaac aaaacaaaga aaagcagaga agaattgaga ccttggaaaa
     1861 gtatctggct gatcttccaa ctctagatga tgtacagagt cagagtctac agctgcagat
     1921 tctggaagaa aaaaataaga atttacaaga ggctttgata gatacagaaa aaaaacttga
     1981 agagatcaaa aagcagtgtc aagataaaga gacacagtta atatgccaga aaaagaaaga
     2041 aaaggagtta gtaactaccg ttcagagttt gcaacaaaaa gtagaaagat gccttgaaga
     2101 tggaatccgc cttcccatgt tagatgcaaa acagcttcag aatgaaaatg ataatctcag
     2161 acaacaaaat gagactgcta gtaagataat agacagccaa caagatgaga ttgacagaat
     2221 gattttagaa attcagtcta tgcaaggaaa gctttctaaa gagaaactga ccactcaaaa
     2281 gatgatggaa gagctggaaa agaaagaaag aaatgtacag agattaacaa aagcattgct
     2341 tgaaaaccaa agacaaacag atgagacatg ctctttattg gatcagggcc aggaacctga
     2401 ccaatctagg cagcagacag ttctttccaa acggccacta tttgatttga ctgtgattga
     2461 tcagctgttc aaggaaatgt cctgttgttt gtttgacttg aaagcattgt gtagtattct
     2521 taatcagcgt gctcagggca aggagcctaa tctttcatta ttactgggaa taagatcaat
     2581 gaactgttca gctgaagaga ctgagaatga ccacagcaca gaaacactca ctaaaaagct
     2641 gtcagatgtg tgccagttac gaagagacat tgatgaatta aggactacaa tatcagaccg
     2701 ctatgctcag gacatgggag acaactgcat tactcagtga tcaagtgtta gtcccacagc
     2761 aataatgacc tgttgtttaa atgctgctgt gttatggagc cataatggaa ggttgcaagt
     2821 gacatgactt gcacttaggg attttttttc tgtggatttg ttttgttgaa ggggagaagg
     2881 gaagtgaaga gattttgaag gggcttatct aatcaggcaa aaagaaaaaa aatcaaatta
     2941 cctttggaaa atatgataaa atctacaagg aaaaaaatgt ctatattctc aaactactga
     3001 ttgtaggacc aagctgtgaa gagtaccctt cacatgaagg agtaggattc cttttaatcc
     3061 tatagctttg tgtgtttgtg tgtgcatgta tgtgtgttgt tgtgtgtgtg tgcacgtgct
     3121 ttattcacaa atttataagg gtttctaggg tcagagcaga gcttctgaga aaggcacacg
     3181 ctgtttattc ttatatttct ttcatataga agcttgtgtt gtactttggg attttcagtg
     3241 gctggctgaa caagagttca aacagcaggc aagtgttgtc atggtagtac aggaggcaaa
     3301 accatttata ttttgaacac ttactgcact gataggatgt ttgtggttga gctgatttta
     3361 gtactgtaga taggtcagct gtttttccag agtgattgtg gatttcccaa gaggtgtgaa
     3421 attttgacgt gatgctcttt ttccttagca ttgtaatgta tgtgttacaa gaaaggttaa
     3481 cataacttga actaatttta acatgttcct tactatttac aattttttat ttatatgttt
     3541 tatatatata catatataaa tgtaaacaaa gccatatata attaataaag gcattggatc
     3601 attattataa aaggaagatt aacaaagtta ccctggaaca atagcttact tatccaaatc
     3661 tcaacattta cattttaaca gttttgtatg tttcaaagtt gaaactactg taagagaaag
     3721 ccaatactat ttatatctga atcaacagta gcataaacat tttttaattg agattgtatt
     3781 ttaatccctt ttgttaaagt acattaacaa cagtttttca caggatatga acttggcgaa
     3841 attagttctt aatctgaatt acagggtatt actatgaaat gcagttgatt ttgcagtaga
     3901 cgtacagtca tttaaacttc caaatgagtg ttgtccatgt ttctgttggt attttggaag
     3961 gattatacat tttattgcct tcagcattga ttatgttctt ttgaatatac ttagttttgg
     4021 cgaaagcctt gtcctttgta agttggtttg atcttgtgat gcaaccaagt ctcatttagg
     4081 tcaagactaa ataagagatg gaggggtaga gggtgtgact caagcaggat aatattgatt
     4141 tgataaagag catatcacat gcctgttttc ttgccagata aagggcatag cacatgcctg
     4201 ttttcttata tactagaata aaggctctcc taggaaagat ttttcttaaa tatttaaaag
     4261 tgaaaatgtg agacaaggcc ttcaaggaga ctacccagga agatacacag tttaaaatgt
     4321 tggctataca gctctcaata gattatttta tagttatagt tgaataatca gttataatac
     4381 actgtaaaga aatcagattt tccttctgtt tggtgtctga gtccttcctg ctcttcttac
     4441 ttctgagaat ctgggcacta agaaatcagt aagtacattg tagtgctcct gcatcccaga
     4501 gtccttaacc taaggagggt cttagtcact ggtaagaact tggctttcta attatattca
     4561 cttggttttt aacattagta gcttgacgat aatcagggta tagtaaattt ccaccaaaaa
     4621 tgtgatgcga agaattctgc cttggtcctt tatggtaaaa cagataataa cgtctaaaat
     4681 agatcagcca caagtgcagc aaatattttt acactctctt tgaatagaat cccaaccacc
     4741 ctcccccatg attttagaaa taaaggcttc ctaaaataat agaacaaatt ggcaaacaat
     4801 cactaattgg accagtaggt tcttacttaa atatctctcc tagattttta gtgtatgttt
     4861 tgggatttta tgggtttatt tatttttttt tttttaagca gacgttacag tttgttttaa
     4921 tctactatag atacgttttt gttttttggc ttagttgggg ataaaataat ttatttgtaa
     4981 gttagctttc taaaacttag agaaagtaat ttaattcacg tatcttaaaa ataaaattcc
     5041 aaagttaaaa aatttctgac ttagtaggaa gttaacaaaa ctactgctga tgcatttcag
     5101 tttccaaaat ctgtaccctc cccccataaa aaagggagtt aagatgtgct agtttaagta
     5161 gttagctgaa ttatagattg atcctcttaa aatctggagt ttgtaaaggg gcctacataa
     5221 acagtagata gacttggagg gattttgtgg gggaattgaa actaatagta ttctatctag
     5281 tttgtcagta tttacttttt gatttttatt tttcagaaaa ttttcctttc ccaggacacc
     5341 ctcttgtatt agaatatcct cttctgtatc acattaaaaa cagattttac tgttagacca
     5401 aataagatgg gcaaatagca acactagagc atctcaccca gtttgaacta ggatgttcgt
     5461 ggaagttatg acaccaatat attcctgaaa tgaaaattaa cctaaatttt aaagtgaatc
     5521 tatttgaaaa tttacttaga taatgaaacc tcgttttaat tgtgcttttt gtgaatccaa
     5581 cacttgtttg cttagaaagt atcttatcca gtattaatat tttgttcttt tgggttttaa
     5641 agttgagctt attcagcctc aatcacatta cagcaagcat aaagtaacag ttgactcaat
     5701 gaaagaccca aattgcctgt acagataaaa ttcactgaat caaaggcaca atagctatct
     5761 tttcacttga gctcagaaaa gtaaaatggc ttaatttgaa ctattaattt tcagtggcct
     5821 ctaattaaac aaaaacaaaa aaccacaaat actggctagg taagatattc ctgaggtcat
     5881 tttaaaagaa gtgtggcacc taggattcaa tatttaatgc taacagtatt atattttagt
     5941 gaaatttatt ttggtggtga cagtttatta aacctaatta gacttctttc aatagcttgt
     6001 tgtagagaca atctcaaggg ctggaaagtg ttgctaaaat gaatgtcata catttctgat
     6061 atactaagga gcttataaag taattctttc atagtgcaag aattattaat ttcttagagg
     6121 atgtttttaa aggagctact taattgggaa aatgttcttt aaatatcagt aatagttcat
     6181 taagtaacat agtagctaag aacatggact atattttcac agcatagttc agcttaggca
     6241 cacctttagt ttggattatt ggcattctct tacgtaggaa ttatatcatt gtagatatgt
     6301 aattatggta ataagcaatt ttcataacca tgctcactca gactatatca tttgaaactg
     6361 ccatgtttcc atttttgaca attcatgttc acaaaacaac aggaacaatt tcctatttgg
     6421 tataaagagc aaaatttcca actttgcccc aaaatgccat gggtggcata ttgccatatg
     6481 attatatcat atatttaatc atgtatggga aagattttgg attttttttc ttatttaaaa
     6541 aagtgctaaa tataagaata tagttttaaa tcagcaagtc taataacact attgcagctg
     6601 tacacagaga gaaccttttg tgcctttttg cctgcagtaa gcatttattt ctattttaca
     6661 tgagttctaa gaatgttgat gattattgca ccttgttctt ctgtatataa acttgattaa
     6721 ggaatttttt tttttaaagc aaggagccgt tttttgttac taggtggata ccttagtaaa
     6781 catgagggga attatcagat agatgtcttt ggagcccagc cttccctgtg tagtgagctg
     6841 gaaactcctt tagattgtat tcattggtgt gtatgtatat gtacatatat gtataaatag
     6901 ttaaatacat aaacataaaa cttaacatcg cattgttgtg atgacaagaa gtagtaaggt
     6961 gctaggtggt tacattaaaa agcacagcac agtgtataat cagtcactat gactggtggt
     7021 tttgtaagct gggttcagtt tttgaaccac ccagaatacc tcatgtgtaa atacagtgtt
     7081 catgacttaa ttgaaataca gttattgttt aaaaaaaaaa aaaaagaatg tgaagccact
     7141 ggttggctta tgccttctga tctatcattc ttgcctcttt ttttgtaaag gggttttctt
     7201 cttgttgttc tgttttttaa tagggtttac agctagaatt ttgaatgcca aagttctatt
     7261 tattaaatta agaaaaaagt tttcaatgtt aatggctagt atttttccac tggactattg
     7321 tttgttgatg ttggaatttg tatttacaga gaaataaatt ttttataaaa aga
//
LOCUS       NM_001042479            3147 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens gem nuclear organelle associated protein 8 (GEMIN8),
            transcript variant 2, mRNA.
ACCESSION   NM_001042479
VERSION     NM_001042479.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3147)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 3147)
  AUTHORS   Chari A, Golas MM, Klingenhager M, Neuenkirchen N, Sander B,
            Englbrecht C, Sickmann A, Stark H and Fischer U.
  TITLE     An assembly chaperone collaborates with the SMN complex to generate
            spliceosomal SnRNPs
  JOURNAL   Cell 135 (3), 497-509 (2008)
   PUBMED   18984161
REFERENCE   3  (bases 1 to 3147)
  AUTHORS   Otter S, Grimmler M, Neuenkirchen N, Chari A, Sickmann A and Fischer
            U.
  TITLE     A comprehensive interaction map of the human survival of motor
            neuron (SMN) complex
  JOURNAL   J Biol Chem 282 (8), 5825-5833 (2007)
   PUBMED   17178713
REFERENCE   4  (bases 1 to 3147)
  AUTHORS   Carissimi C, Saieva L, Gabanella F and Pellizzoni L.
  TITLE     Gemin8 is required for the architecture and function of the survival
            motor neuron complex
  JOURNAL   J Biol Chem 281 (48), 37009-37016 (2006)
   PUBMED   17023415
  REMARK    GeneRIF: Gemin8 has an essential role in the proper structural
            organization of the SMN complex and the involvement of the
            heteromeric subunit containing Gemin6, Gemin7, Gemin8, and Unrip in
            the recruitment of Sm proteins to the snRNP assembly pathway
REFERENCE   5  (bases 1 to 3147)
  AUTHORS   Carissimi C, Saieva L, Baccon J, Chiarella P, Maiolica A, Sawyer A,
            Rappsilber J and Pellizzoni L.
  TITLE     Gemin8 is a novel component of the survival motor neuron complex and
            functions in small nuclear ribonucleoprotein assembly
  JOURNAL   J Biol Chem 281 (12), 8126-8134 (2006)
   PUBMED   16434402
  REMARK    GeneRIF: Gemin8 is a novel integral component of the SMN complex
REFERENCE   6  (bases 1 to 3147)
  AUTHORS   Paushkin S, Gubitz AK, Massenet S and Dreyfuss G.
  TITLE     The SMN complex, an assemblyosome of ribonucleoproteins
  JOURNAL   Curr Opin Cell Biol 14 (3), 305-312 (2002)
   PUBMED   12067652
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.222711.1,
            SRR1803612.163234.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2155770
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000680255.1/ ENSP00000505429.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC003035.1, BX386466.2 and
            AK000521.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001042479.1.
            Summary: The protein encoded by this gene is part of the SMN
            complex, which is necessary for spliceosomal snRNP assembly in the
            cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein
            binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating
            their interaction. This protein is found in nuclear Gemini of Cajal
            bodies (gems) and in the cytoplasm. Three transcript variants
            encoding the same protein have been found for this gene. [provided
            by RefSeq, May 2010].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 3. All three variants encode the same protein.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3147
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..3147
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="gem nuclear organelle associated protein 8"
                     /db_xref="GeneID:54960"
                     /db_xref="HGNC:HGNC:26044"
                     /db_xref="MIM:300962"
     CDS             232..960
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="family with sequence similarity 51, member A1;
                     gemin-8"
                     /codon_start=1
                     /product="gem-associated protein 8"
                     /protein_id="NP_001035944.1"
                     /db_xref="CCDS:CCDS14159.1"
                     /db_xref="GeneID:54960"
                     /db_xref="HGNC:HGNC:26044"
                     /db_xref="MIM:300962"
                     /translation="MAAVKASTSKATRPWYSHPVYARYWQHYHQAMAWMQSHHNAYRKA
                     VESCFNLPWYLPSALLPQSSYDNEAAYPQSFYDHHVAWQDYPCSSSHFRRSGQHPRYSS
                     RIQASTKEDQALSKEEEMETESDAEVECDLSNMEITEELRQYFAETERHREERRRQQQL
                     DAERLDSYVNADHDLYCNTRRSVEAPTERPGERRQAEMKRLYGDSAAKIQAMEAAVQLS
                     FDKHCDRKQPKYWPVIPLKF"
     misc_feature    511..621
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NWZ8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    580..582
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9NWZ8.1); phosphorylation site"
     misc_feature    601..603
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9NWZ8.1); phosphorylation site"
     misc_feature    607..609
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9NWZ8.1); phosphorylation site"
     misc_feature    1077..1436
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="Region: Clone zw80c08.s1 AA431769 AA432019"
     regulatory      1184..1189
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="hexamer: AATAAT"
     polyA_site      1202
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="major polyA site"
     polyA_site      1257
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="major polyA site"
     misc_feature    2620..2997
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="Region: on77a08.s1 Homo sapiens cDNA, AA952971 and
                     AA934058"
     regulatory      3128..3133
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="hexamer: AATAAA"
     polyA_site      3147
                     /gene="GEMIN8"
                     /gene_synonym="FAM51A1"
                     /note="major polyA site"
ORIGIN
        1 agtcgccccg gcaacagccg cctccctcgc gtcccccact ccccctctgt ctctccaagg
       61 aaaactaggc ccctgcgcgg ccaacgccca ggatccgcaa gctgcgcgcc cacgagctcc
      121 accagcccat tggagaaaag ttactgttca gtccctgaag gcttgtgcca taaaagagtg
      181 ggagacattc ccagggagtt tcagcaccca tttggacttt cacaatcaga gatggcagcg
      241 gtaaaggcat caacatcgaa agctaccagg ccttggtatt ctcatccggt atatgcaaga
      301 tactggcaac attatcatca agcaatggct tggatgcaaa gccatcacaa tgcctacagg
      361 aaggccgtgg aatcctgttt caatcttcca tggtacttac cttctgcgct tcttccccaa
      421 agctcttacg ataatgaggc tgcgtatcct cagtccttct atgaccatca tgtggcctgg
      481 caggactacc cctgcagttc ttcacatttc agaagatctg ggcagcatcc acgttacagc
      541 agtaggatcc aggcatccac aaaagaagac caagctttgt ccaaagagga agagatggag
      601 actgagtcag atgcagaggt agaatgtgac ctgagcaata tggaaatcac tgaagagctc
      661 cgccagtact ttgcagagac cgagaggcat agagaagaac gacggcggca gcagcagctg
      721 gatgcagagc gcctggacag ctatgtgaac gctgaccacg acctgtactg caacacccgc
      781 cggtcggtag aagccccaac tgagaggcct ggtgagcggc gccaggccga gatgaagcgt
      841 ttgtacgggg acagtgctgc caagatccaa gccatggagg ccgcggtgca gctgagcttt
      901 gacaagcact gtgaccgaaa gcagcccaag tactggccgg tcatccccct gaagttctga
      961 gctcagggca cagggtaccc agcctctcct tcttcctttt gggtacacgc tctttatctc
     1021 tccttctgta catttcttag ggaaagggga ctttgtactg gggtacaggc atgttcacca
     1081 cagtcccagt gggcctgtca cggggtggat gtactatgcc agccacttgg aggtctgcag
     1141 gacatgttct gttgccaaca tgataaattt tctcctgaca taaaataatt ttgcatatac
     1201 tatactggtt ttttatgttg ttggtaacag ttcaattcat taacgttctt gcctagagat
     1261 actgcctggt gttttgcttt tttatctttt cttgtcttta acctgtctga actacacaaa
     1321 tgcctttaaa aaaccagata tcctctctga ctctagctcc attagccccc actaaaaatg
     1381 agccaagtgt gtagtgagac aaataccact acctgtagtg gagagggatg catgttctat
     1441 aaagggccag agagtgaata tctttggcac tgcaagccac acggtcagtg ttgtgactac
     1501 tcaaccctcc ctttgtagtg tgaaagcagc tgtagacagt aagtaaacaa atgggtgtgg
     1561 ctgtgttcta ataaaacttt atttataaaa acaggcggcc gggcgcaatg gttcatgcct
     1621 gtaatcccag cactttggga ggccgaggtg ggcagatcac gaggtcagga gatggagacc
     1681 atcctggcca acatgatgaa acccgtcgct actaaaatac aaaaaatgag ccgggcatgg
     1741 tggtgtgtgc ctgtaatccc agctacgtgg gagactgagg caggggaatt gcttgaaccc
     1801 aggaggcaga ggttgcagtg agctgagatc gcgccactgc actccaacct agagaaagag
     1861 caagactccg tctcaaaaca aaaacaaaaa cagactgcag gccagatttg gtctacagat
     1921 ggtagtttgc caactgcacc tctcatggaa tgaaaatcac ctgcctgaca tttttattct
     1981 tgttatctca ttatgtctac agagcttaga tgtcatacag aattgagagc aaagaacaat
     2041 aattccggcc cggcgcggtg gctcatgcct gtaatcccag cactttggga ggctgaggtg
     2101 ggcagatcac gagatcagga gatcgagacc atcctggcta acacggtgaa accccatctc
     2161 tactaaaaat acaaaaaatt agccgggcgt ggtggcgggc acctgtagtc ccagctactt
     2221 gggaggctga ggcaggagaa tggcgtgaac ccaggaggcg gagcttgcag tgagccgagc
     2281 tccagcctgg gcaacagagt gagactccat ctcaaaagaa aaaaaaaaaa gaacaataat
     2341 tcccaaacct ggtcactgct gcagtcacct ctgttgcaga aaacgcacag ttgatttctt
     2401 actatataca gcaaatattg atttgataaa ggaatacatt tctgaaaatg aaatctaaaa
     2461 gctgatggag caggtcattt ataaaagcca gctgcctttt aaataagtta ttacagtaca
     2521 ttgccagggt gagcccatgt tgacctgaga agattagcac atccatcaaa ggctggtgaa
     2581 aagatttagt attgacatgt ttctctctaa gaacagttgg cttcacattc agcccctgcc
     2641 ctgagacaaa tgcattattt tcatcagccc tgggtgctta tttttctaag ctctcatttt
     2701 attactggag tcacaatttg tgtgtaggtg ttgccgacaa aaatgataat taactttccc
     2761 ttgaggtgac acataactaa aatttcaaat ctttagtatt tctccctttc attttaaatt
     2821 catatgccta actataaaat aactgtgact gagatacaag tacaaaccaa agcctggaat
     2881 tgcagcaggt gctgaggcat ttgaaagtga aatgtttctc ttcgcaaagg actcttatac
     2941 cctcccctaa agaaatcacc atgccggtct cacccctact ggctttgtta cctaaggctt
     3001 cacctctcag tgcttctggt tccttcctta tccttaaaat gagtgttaat aattctctcg
     3061 tggggtcatt gtgcggacca cattgagtag tgcctgtaaa acagtgctgg ctacacggta
     3121 aatactcaat aaatgttgac acgttta
//
LOCUS       NM_001042492           12373 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.
ACCESSION   NM_001042492
VERSION     NM_001042492.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 12373)
  AUTHORS   Booth SJ, Garg S, Brown LJE, Green J, Pobric G and Taylor JR.
  TITLE     Aberrant oscillatory activity in neurofibromatosis type 1: an EEG
            study of resting state and working memory
  JOURNAL   J Neurodev Disord 15 (1), 27 (2023)
   PUBMED   37608248
  REMARK    GeneRIF: Aberrant oscillatory activity in neurofibromatosis type 1:
            an EEG study of resting state and working memory. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 12373)
  AUTHORS   Evlice A, Bisgin A and Koc F.
  TITLE     Neurological comorbidities and novel mutations in Turkish cases with
            neurofibromatosis type 1
  JOURNAL   Ideggyogy Sz 76 (7-8), 270-274 (2023)
   PUBMED   37471196
  REMARK    GeneRIF: Neurological comorbidities and novel mutations in Turkish
            cases with neurofibromatosis type 1.
REFERENCE   3  (bases 1 to 12373)
  AUTHORS   Koczkowska M, Chen Y, Xie J, Callens T, Gomes A, Wimmer K and
            Messiaen LM.
  TITLE     Analysis of 200 unrelated individuals with a constitutional NF1 deep
            intronic pathogenic variant reveals that variants flanking the
            alternatively spliced NF1 exon 31 [23a] cause a classical
            neurofibromatosis type 1 phenotype while altering predominantly NF1
            isoform type II
  JOURNAL   Hum Genet 142 (7), 849-861 (2023)
   PUBMED   37186028
  REMARK    GeneRIF: Analysis of 200 unrelated individuals with a constitutional
            NF1 deep intronic pathogenic variant reveals that variants flanking
            the alternatively spliced NF1 exon 31 [23a] cause a classical
            neurofibromatosis type 1 phenotype while altering predominantly NF1
            isoform type II.
REFERENCE   4  (bases 1 to 12373)
  AUTHORS   Mukhopadhyay D, Anant S, Lee RM, Kennedy S, Viskochil D and Davidson
            NO.
  TITLE     C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that
            express both the type II transcript and apobec-1, the catalytic
            subunit of the apolipoprotein B mRNA-editing enzyme
  JOURNAL   Am J Hum Genet 70 (1), 38-50 (2002)
   PUBMED   11727199
  REMARK    GeneRIF: C-->U editing of neurofibromatosis 1 mRNA occurs in tumors
            that express both the type II transcript and apobec-1, the catalytic
            subunit of the apolipoprotein B mRNA-editing enzyme
REFERENCE   5  (bases 1 to 12373)
  AUTHORS   Skuse GR, Cappione AJ, Sowden M, Metheny LJ and Smith HC.
  TITLE     The neurofibromatosis type I messenger RNA undergoes
            base-modification RNA editing
  JOURNAL   Nucleic Acids Res 24 (3), 478-485 (1996)
   PUBMED   8602361
REFERENCE   6  (bases 1 to 12373)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301612
REFERENCE   7  (bases 1 to 12373)
  AUTHORS   Turner,J.T., Brzezinski,J. and Dome,J.S.
  TITLE     Wilms Tumor Predisposition
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301471
REFERENCE   8  (bases 1 to 12373)
  AUTHORS   Friedman,J.M.
  TITLE     Neurofibromatosis 1
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301288
REFERENCE   9  (bases 1 to 12373)
  AUTHORS   Upadhyaya M, Shen M, Cherryson A, Farnham J, Maynard J, Huson SM and
            Harper PS.
  TITLE     Analysis of mutations at the neurofibromatosis 1 (NF1) locus
  JOURNAL   Hum Mol Genet 1 (9), 735-740 (1992)
   PUBMED   1302608
REFERENCE   10  (bases 1 to 12373)
  AUTHORS   Suzuki H, Takahashi K, Kubota Y and Shibahara S.
  TITLE     Molecular cloning of a cDNA coding for neurofibromatosis type 1
            protein isoform lacking the domain related to ras GTPase-activating
            protein
  JOURNAL   Biochem Biophys Res Commun 187 (2), 984-990 (1992)
   PUBMED   1339276
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.230565.1, M89914.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000358273.9/ ENSP00000351015.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            undergoes RNA editing       :: PMID: 8602361, 11727199
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D12625.1, M89914.1, BX391799.2,
            BP271334.1, AC135724.9 and AK026658.1.
            On Aug 31, 2019 this sequence version replaced NM_001042492.2.
            Summary: This gene product appears to function as a negative
            regulator of the ras signal transduction pathway. Mutations in this
            gene have been linked to neurofibromatosis type 1, juvenile
            myelomonocytic leukemia and Watson syndrome. The mRNA for this gene
            is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in
            premature translation termination. Alternatively spliced transcript
            variants encoding different isoforms have also been described for
            this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1), with an additional in-frame
            coding exon, represents the longest transcript and encodes the
            longest isoform (1). Studies suggest preferential C->U RNA editing
            of transcripts containing this exon.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..12373
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..12373
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="neurofibromin 1"
                     /db_xref="GeneID:4763"
                     /db_xref="HGNC:HGNC:7765"
                     /db_xref="MIM:613113"
     misc_feature    175..177
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="upstream in-frame stop codon"
     CDS             334..8853
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="isoform 1 is encoded by transcript variant 1;
                     neurofibromatosis-related protein NF-1; neurofibromatosis
                     1"
                     /codon_start=1
                     /product="neurofibromin isoform 1"
                     /protein_id="NP_001035957.1"
                     /db_xref="CCDS:CCDS42292.1"
                     /db_xref="GeneID:4763"
                     /db_xref="HGNC:HGNC:7765"
                     /db_xref="MIM:613113"
                     /translation="MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLIN
                     ISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRL
                     DETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTRLQE
                     LTVCSEDNVDVHDIELLQYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWN
                     WVENYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLILCPEII
                     QDISKDVVDENNMNKKLFLDSLRKALAGHGGSRQLTESAAIACVKLCKASTYINWEDNS
                     VIFLLVQSMVVDLKNLLFNPSKPFSRGSQPADVDLMIDCLVSCFRISPHNNQHFKICLA
                     QNSPSTFHYVLVNSLHRIITNSALDWWPKIDAVYCHSVELRNMFGETLHKAVQGCGAHP
                     AIRMAPSLTFKEKVTSLKFKEKPTDLETRSYKYLLLSMVKLIHADPKLLLCNPRKQGPE
                     TQGSTAELITGLVQLVPQSHMPEIAQEAMEALLVLHQLDSIDLWNPDAPVETFWEISSQ
                     MLFYICKKLTSHQMLSSTEILKWLREILICRNKFLLKNKQADRSSCHFLLFYGVGCDIP
                     SSGNTSQMSMDHEELLRTPGASLRKGKGNSSMDSAAGCSGTPPICRQAQTKLEVALYMF
                     LWNPDTEAVLVAMSCFRHLCEEADIRCGVDEVSVHNLLPNYNTFMEFASVSNMMSTGRA
                     ALQKRVMALLRRIEHPTAGNTEAWEDTHAKWEQATKLILNYPKAKMEDGQAAESLHKTI
                     VKRRMSHVSGGGSIDLSDTDSLQEWINMTGFLCALGGVCLQQRSNSGLATYSPPMGPVS
                     ERKGSMISVMSSEGNADTPVSKFMDRLLSLMVCNHEKVGLQIRTNVKDLVGLELSPALY
                     PMLFNKLKNTISKFFDSQGQVLLTDTNTQFVEQTIAIMKNLLDNHTEGSSEHLGQASIE
                     TMMLNLVRYVRVLGNMVHAIQIKTKLCQLVEVMMARRDDLSFCQEMKFRNKMVEYLTDW
                     VMGTSNQAADDDVKCLTRDLDQASMEAVVSLLAGLPLQPEEGDGVELMEAKSQLFLKYF
                     TLFMNLLNDCSEVEDESAQTGGRKRGMSRRLASLRHCTVLAMSNLLNANVDSGLMHSIG
                     LGYHKDLQTRATFMEVLTKILQQGTEFDTLAETVLADRFERLVELVTMMGDQGELPIAM
                     ALANVVPCSQWDELARVLVTLFDSRHLLYQLLWNMFSKEVELADSMQTLFRGNSLASKI
                     MTFCFKVYGATYLQKLLDPLLRIVITSSDWQHVSFEVDPTRLEPSESLEENQRNLLQMT
                     EKFFHAIISSSSEFPPQLRSVCHCLYQATCHSLLNKATVKEKKENKKSVVSQRFPQNSI
                     GAVGSAMFLRFINPAIVSPYEAGILDKKPPPRIERGLKLMSKILQSIANHVLFTKEEHM
                     RPFNDFVKSNFDAARRFFLDIASDCPTSDAVNHSLSFISDGNVLALHRLLWNNQEKIGQ
                     YLSSNRDHKAVGRRPFDKMATLLAYLGPPEHKPVADTHWSSLNLTSSKFEEFMTRHQVH
                     EKEEFKALKTLSIFYQAGTSKAGNPIFYYVARRFKTGQINGDLLIYHVLLTLKPYYAKP
                     YEIVVDLTHTGPSNRFKTDFLSKWFVVFPGFAYDNVSAVYIYNCNSWVREYTKYHERLL
                     TGLKGSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVFHNALKLAHKDTKVSIK
                     VGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFTLTIANQGTPLTFMHQ
                     ECEAIVQSIIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALLNLGSSDPSLRSAAY
                     NLLCALTCTFNLKIEGQLLETSGLCIPANNTLFIVSISKTLAANEPHLTLEFLEECISG
                     FSKSSIELKHLCLEYMTPWLSNLVRFCKHNDDAKRQRVTAILDKLITMTINEKQMYPSI
                     QAKIWGSLGQITDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVALASGNVKLVSSKVI
                     GRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLDVAAHLPYLFHVVTFL
                     VATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPKFYLLFGISK
                     VKSAAVIAFRSSYRDRSFSPGSYERETFALTSLETVTEALLEIMEACMRDIPTCKWLDQ
                     WTELAQRFAFQYNPSLQPRALVVFGCISKRVSHGQIKQIIRILSKALESCLKGPDTYNS
                     QVLIEATVIALTKLQPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLD
                     SLRIFNDKSPEEVFMAIRNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRHPSPAI
                     VARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALLTVSEEVRSRCSLKHRKSLLLT
                     DISMENVPMDTYPIHHGDPSYRTLKETQPWSSPKGSEGYLAATYPTVGQTSPRARKSMS
                     LDMGQPSQANTKKLLGTRKSFDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEMETQ
                     RISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILYE
                     YLAEASVVFPKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQT
                     SYLQSFGFNGLWRFAGPFSKQTQIPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPT
                     SPYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVELSPTTGHCNSGRTRHGSA
                     SQVQKQRSAGSFKRNSIKKIV"
     misc_feature    337..339
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000250|UniProtKB:P97526; propagated from
                     UniProtKB/Swiss-Prot (P21359.2); acetylation site"
     misc_feature    2923..2925
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P21359.2); phosphorylation site"
     misc_feature    2959..2961
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P21359.2); phosphorylation site"
     misc_feature    5071..5844
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="propagated from UniProtKB/Swiss-Prot (P21359.2);
                     Region: Lipid binding"
     misc_feature    6895..6897
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P21359.2); phosphorylation site"
     misc_feature    7732..7734
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q04690; propagated from
                     UniProtKB/Swiss-Prot (P21359.2); phosphorylation site"
     misc_feature    7873..7875
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q04690; propagated from
                     UniProtKB/Swiss-Prot (P21359.2); phosphorylation site"
     misc_feature    7876..7878
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P21359.2);
                     phosphorylation site"
     misc_feature    7894..7896
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P21359.2); phosphorylation site"
     misc_feature    7900..7902
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P21359.2); phosphorylation site"
     misc_feature    7960..7962
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P21359.2); phosphorylation site"
     misc_feature    7996..8046
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="propagated from UniProtKB/Swiss-Prot (P21359.2);
                     Region: Bipartite nuclear localization signal"
     misc_feature    8026..8028
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P21359.2); phosphorylation site"
     misc_feature    8122..8124
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P21359.2); phosphorylation site"
     misc_feature    8692..8850
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="propagated from UniProtKB/Swiss-Prot (P21359.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    8737..8739
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P21359.2); phosphorylation site"
     misc_feature    8782..8784
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P21359.2);
                     phosphorylation site"
     regulatory      10503..10508
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="hexamer: AATAAA"
     polyA_site      10529
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="major polyA site"
     regulatory      12346..12351
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="hexamer: AGTAAA"
     polyA_site      12373
                     /gene="NF1"
                     /gene_synonym="NFNS; VRNF; WSS"
                     /note="major polyA site"
ORIGIN
        1 acttccggtg gggtgtcatg gcggcgtctc ggactgtgat ggctgtgggg agacggcgct
       61 agtggggaga gcgaccaaga ggccccctcc cctccccggg tccccttccc ctatccccct
      121 ccccccagcc tccttgccaa cgcccccttt ccctctcccc ctcccgctcg gcgctgaccc
      181 cccatcccca cccccgtggg aacactggga gcctgcactc cacagaccct ctccttgcct
      241 cttccctcac ctcagcctcc gctccccgcc ctcttcccgg cccagggcgc cggcccaccc
      301 ttccctccgc cgccccccgg ccgcggggag gacatggccg cgcacaggcc ggtggaatgg
      361 gtccaggccg tggtcagccg cttcgacgag cagcttccaa taaaaacagg acagcagaac
      421 acacatacca aagtcagtac tgagcacaac aaggaatgtc taatcaatat ttccaaatac
      481 aagttttctt tggttataag cggcctcact actattttaa agaatgttaa caatatgaga
      541 atatttggag aagctgctga aaaaaattta tatctctctc agttgattat attggataca
      601 ctggaaaaat gtcttgctgg gcaaccaaag gacacaatga gattagatga aacgatgctg
      661 gtcaaacagt tgctgccaga aatctgccat tttcttcaca cctgtcgtga aggaaaccag
      721 catgcagctg aacttcggaa ttctgcctct ggggttttat tttctctcag ctgcaacaac
      781 ttcaatgcag tctttagtcg catttctacc aggttacagg aattaactgt ttgttcagaa
      841 gacaatgttg atgttcatga tatagaattg ttacagtata tcaatgtgga ttgtgcaaaa
      901 ttaaaacgac tcctgaagga aacagcattt aaatttaaag ccctaaagaa ggttgcgcag
      961 ttagcagtta taaatagcct ggaaaaggca ttttggaact gggtagaaaa ttatccagat
     1021 gaatttacaa aactgtacca gatcccacag actgatatgg ctgaatgtgc agaaaagcta
     1081 tttgacttgg tggatggttt tgctgaaagc accaaacgta aagcagcagt ttggccacta
     1141 caaatcattc tccttatctt gtgtccagaa ataatccagg atatatccaa agacgtggtt
     1201 gatgaaaaca acatgaataa gaagttattt ctggacagtc tacgaaaagc tcttgctggc
     1261 catggaggaa gtaggcagct gacagaaagt gctgcaattg cctgtgtcaa actgtgtaaa
     1321 gcaagtactt acatcaattg ggaagataac tctgtcattt tcctacttgt tcagtccatg
     1381 gtggttgatc ttaagaacct gctttttaat ccaagtaagc cattctcaag aggcagtcag
     1441 cctgcagatg tggatctaat gattgactgc cttgtttctt gctttcgtat aagccctcac
     1501 aacaaccaac actttaagat ctgcctggct cagaattcac cttctacatt tcactatgtg
     1561 ctggtaaatt cactccatcg aatcatcacc aattccgcat tggattggtg gcctaagatt
     1621 gatgctgtgt attgtcactc ggttgaactt cgaaatatgt ttggtgaaac acttcataaa
     1681 gcagtgcaag gttgtggagc acacccagca atacgaatgg caccgagtct tacatttaaa
     1741 gaaaaagtaa caagccttaa atttaaagaa aaacctacag acctggagac aagaagctat
     1801 aagtatcttc tcttgtccat ggtgaaacta attcatgcag atccaaagct cttgctttgt
     1861 aatccaagaa aacaggggcc cgaaacccaa ggcagtacag cagaattaat tacagggctc
     1921 gtccaactgg tccctcagtc acacatgcca gagattgctc aggaagcaat ggaggctctg
     1981 ctggttcttc atcagttaga tagcattgat ttgtggaatc ctgatgctcc tgtagaaaca
     2041 ttttgggaga ttagctcaca aatgcttttt tacatctgca agaaattaac tagtcatcaa
     2101 atgcttagta gcacagaaat tctcaagtgg ttgcgggaaa tattgatctg caggaataaa
     2161 tttcttctta aaaataagca ggcagataga agttcctgtc actttctcct tttttacggg
     2221 gtaggatgtg atattccttc tagtggaaat accagtcaaa tgtccatgga tcatgaagaa
     2281 ttactacgta ctcctggagc ctctctccgg aagggaaaag ggaactcctc tatggatagt
     2341 gcagcaggat gcagcggaac ccccccgatt tgccgacaag cccagaccaa actagaagtg
     2401 gccctgtaca tgtttctgtg gaaccctgac actgaagctg ttctggttgc catgtcctgt
     2461 ttccgccacc tctgtgagga agcagatatc cggtgtgggg tggatgaagt gtcagtgcat
     2521 aacctcttgc ccaactataa cacattcatg gagtttgcct ctgtcagcaa tatgatgtca
     2581 acaggaagag cagcacttca gaaaagagtg atggcactgc tgaggcgcat tgagcatccc
     2641 actgcaggaa acactgaggc ttgggaagat acacatgcaa aatgggaaca agcaacaaag
     2701 ctaatcctta actatccaaa agccaaaatg gaagatggcc aggctgctga aagccttcac
     2761 aagaccattg ttaagaggcg aatgtcccat gtgagtggag gaggatccat agatttgtct
     2821 gacacagact ccctacagga atggatcaac atgactggct tcctttgtgc ccttggggga
     2881 gtgtgcctcc agcagagaag caattctggc ctggcaacct atagcccacc catgggtcca
     2941 gtcagtgaac gtaagggttc tatgatttca gtgatgtctt cagagggaaa cgcagataca
     3001 cctgtcagca aatttatgga tcggctgttg tccttaatgg tgtgtaacca tgagaaagtg
     3061 ggacttcaaa tacggaccaa tgttaaggat ctggtgggtc tagaattgag tcctgctctg
     3121 tatccaatgc tatttaacaa attgaagaat accatcagca agttttttga ctcccaagga
     3181 caggttttat tgactgatac caatactcaa tttgtagaac aaaccatagc tataatgaag
     3241 aacttgctag ataatcatac tgaaggcagc tctgaacatc tagggcaagc tagcattgaa
     3301 acaatgatgt taaatctggt caggtatgtt cgtgtgcttg ggaatatggt ccatgcaatt
     3361 caaataaaaa cgaaactgtg tcaattagtt gaagtaatga tggcaaggag agatgacctc
     3421 tcattttgcc aagagatgaa atttaggaat aagatggtag aatacctgac agactgggtt
     3481 atgggaacat caaaccaagc agcagatgat gatgtaaaat gtcttacaag agatttggac
     3541 caggcaagca tggaagcagt agtttcactt ctagctggtc tccctctgca gcctgaagaa
     3601 ggagatggtg tggaattgat ggaagccaaa tcacagttat ttcttaaata cttcacatta
     3661 tttatgaacc ttttgaatga ctgcagtgaa gttgaagatg aaagtgcgca aacaggtggc
     3721 aggaaacgtg gcatgtctcg gaggctggca tcactgaggc actgtacggt ccttgcaatg
     3781 tcaaacttac tcaatgccaa cgtagacagt ggtctcatgc actccatagg cttaggttac
     3841 cacaaggatc tccagacaag agctacattt atggaagttc tgacaaaaat ccttcaacaa
     3901 ggcacagaat ttgacacact tgcagaaaca gtattggctg atcggtttga gagattggtg
     3961 gaactggtca caatgatggg tgatcaagga gaactcccta tagcgatggc tctggccaat
     4021 gtggttcctt gttctcagtg ggatgaacta gctcgagttc tggttactct gtttgattct
     4081 cggcatttac tctaccaact gctctggaac atgttttcta aagaagtaga attggcagac
     4141 tccatgcaga ctctcttccg aggcaacagc ttggccagta aaataatgac attctgtttc
     4201 aaggtatatg gtgctaccta tctacaaaaa ctcctggatc ctttattacg aattgtgatc
     4261 acatcctctg attggcaaca tgttagcttt gaagtggatc ctaccaggtt agaaccatca
     4321 gagagccttg aggaaaacca gcggaacctc cttcagatga ctgaaaagtt cttccatgcc
     4381 atcatcagtt cctcctcaga attcccccct caacttcgaa gtgtgtgcca ctgtttatac
     4441 caggcaactt gccactccct actgaataaa gctacagtaa aagaaaaaaa ggaaaacaaa
     4501 aaatcagtgg ttagccagcg tttccctcag aacagcatcg gtgcagtagg aagtgccatg
     4561 ttcctcagat ttatcaatcc tgccattgtc tcaccgtatg aagcagggat tttagataaa
     4621 aagccaccac ctagaatcga aaggggcttg aagttaatgt caaagatact tcagagtatt
     4681 gccaatcatg ttctcttcac aaaagaagaa catatgcggc ctttcaatga ttttgtgaaa
     4741 agcaactttg atgcagcacg caggtttttc cttgatatag catctgattg tcctacaagt
     4801 gatgcagtaa atcatagtct ttccttcata agtgacggca atgtgcttgc tttacatcgt
     4861 ctactctgga acaatcagga gaaaattggg cagtatcttt ccagcaacag ggatcataaa
     4921 gctgttggaa gacgaccttt tgataagatg gcaacacttc ttgcatacct gggtcctcca
     4981 gagcacaaac ctgtggcaga tacacactgg tccagcctta accttaccag ttcaaagttt
     5041 gaggaattta tgactaggca tcaggtacat gaaaaagaag aattcaaggc tttgaaaacg
     5101 ttaagtattt tctaccaagc tgggacttcc aaagctggga atcctatttt ttattatgtt
     5161 gcacggaggt tcaaaactgg tcaaatcaat ggtgatttgc tgatatacca tgtcttactg
     5221 actttaaagc catattatgc aaagccatat gaaattgtag tggaccttac ccataccggg
     5281 cctagcaatc gctttaaaac agactttctc tctaagtggt ttgttgtttt tcctggcttt
     5341 gcttacgaca acgtctccgc agtctatatc tataactgta actcctgggt cagggagtac
     5401 accaagtatc atgagcggct gctgactggc ctcaaaggta gcaaaaggct tgttttcata
     5461 gactgtcctg ggaaactggc tgagcacata gagcatgaac aacagaaact acctgctgcc
     5521 accttggctt tagaagagga cctgaaggta ttccacaatg ctctcaagct agctcacaaa
     5581 gacaccaaag tttctattaa agttggttct actgctgtcc aagtaacttc agcagagcga
     5641 acaaaagtcc tagggcaatc agtctttcta aatgacattt attatgcttc ggaaattgaa
     5701 gaaatctgcc tagtagatga gaaccagttc accttaacca ttgcaaacca gggcacgccg
     5761 ctcaccttca tgcaccagga gtgtgaagcc attgtccagt ctatcattca tatccggacc
     5821 cgctgggaac tgtcacagcc cgactctatc ccccaacaca ccaagattcg gccaaaagat
     5881 gtccctggga cactgctcaa tatcgcatta cttaatttag gcagttctga cccgagttta
     5941 cggtcagctg cctataatct tctgtgtgcc ttaacttgta cctttaattt aaaaatcgag
     6001 ggccagttac tagagacatc aggtttatgt atccctgcca acaacaccct ctttattgtc
     6061 tctattagta agacactggc agccaatgag ccacacctca cgttagaatt tttggaagag
     6121 tgtatttctg gatttagcaa atctagtatt gaattgaaac acctttgttt ggaatacatg
     6181 actccatggc tgtcaaatct agttcgtttt tgcaagcata atgatgatgc caaacgacaa
     6241 agagttactg ctattcttga caagctgata acaatgacca tcaatgaaaa acagatgtac
     6301 ccatctattc aagcaaaaat atggggaagc cttgggcaga ttacagatct gcttgatgtt
     6361 gtactagaca gtttcatcaa aaccagtgca acaggtggct tgggatcaat aaaagctgag
     6421 gtgatggcag atactgctgt agctttggct tctggaaatg tgaaattggt ttcaagcaag
     6481 gttattggaa ggatgtgcaa aataattgac aagacatgct tatctccaac tcctacttta
     6541 gaacaacatc ttatgtggga tgatattgct attttagcac gctacatgct gatgctgtcc
     6601 ttcaacaatt cccttgatgt ggcagctcat cttccctacc tcttccacgt tgttactttc
     6661 ttagtagcca caggtccgct ctcccttaga gcttccacac atggactggt cattaatatc
     6721 attcactctc tgtgtacttg ttcacagctt cattttagtg aagagaccaa gcaagttttg
     6781 agactcagtc tgacagagtt ctcattaccc aaattttact tgctgtttgg cattagcaaa
     6841 gtcaagtcag ctgctgtcat tgccttccgt tccagttacc gggacaggtc attctctcct
     6901 ggctcctatg agagagagac ttttgctttg acatccttgg aaacagtcac agaagctttg
     6961 ttggagatca tggaggcatg catgagagat attccaacgt gcaagtggct ggaccagtgg
     7021 acagaactag ctcaaagatt tgcattccaa tataatccat ccctgcaacc aagagctctt
     7081 gttgtctttg ggtgtattag caaacgagtg tctcatgggc agataaagca gataatccgt
     7141 attcttagca aggcacttga gagttgctta aaaggacctg acacttacaa cagtcaagtt
     7201 ctgatagaag ctacagtaat agcactaacc aaattacagc cacttcttaa taaggactcg
     7261 cctctgcaca aagccctctt ttgggtagct gtggctgtgc tgcagcttga tgaggtcaac
     7321 ttgtattcag caggtaccgc acttcttgaa caaaacctgc atactttaga tagtctccgt
     7381 atattcaatg acaagagtcc agaggaagta tttatggcaa tccggaatcc tctggagtgg
     7441 cactgcaagc aaatggatca ttttgttgga ctcaatttca actctaactt taactttgca
     7501 ttggttggac accttttaaa agggtacagg catccttcac ctgctattgt tgcaagaaca
     7561 gtcagaattt tacatacact actaactctg gttaacaaac acagaaattg tgacaaattt
     7621 gaagtgaata cacagagcgt ggcctactta gcagctttac ttacagtgtc tgaagaagtt
     7681 cgaagtcgct gcagcctaaa acatagaaag tcacttcttc ttactgatat ttcaatggaa
     7741 aatgttccta tggatacata tcccattcat catggtgacc cttcctatag gacactaaag
     7801 gagactcagc catggtcctc tcccaaaggt tctgaaggat accttgcagc cacctatcca
     7861 actgtcggcc agaccagtcc ccgagccagg aaatccatga gcctggacat ggggcaacct
     7921 tctcaggcca acactaagaa gttgcttgga acaaggaaaa gttttgatca cttgatatca
     7981 gacacaaagg ctcctaaaag gcaagaaatg gaatcaggga tcacaacacc ccccaaaatg
     8041 aggagagtag cagaaactga ttatgaaatg gaaactcaga ggatttcctc atcacaacag
     8101 cacccacatt tacgtaaagt ttcagtgtct gaatcaaatg ttctcttgga tgaagaagta
     8161 cttactgatc cgaagatcca ggcgctgctt cttactgttc tagctacact ggtaaaatat
     8221 accacagatg agtttgatca acgaattctt tatgaatact tagcagaggc cagtgttgtg
     8281 tttcccaaag tctttcctgt tgtgcataat ttgttggact ctaagatcaa caccctgtta
     8341 tcattgtgcc aagatccaaa tttgttaaat ccaatccatg gaattgtgca gagtgtggtg
     8401 taccatgaag aatccccacc acaataccaa acatcttacc tgcaaagttt tggttttaat
     8461 ggcttgtggc ggtttgcagg accgttttca aagcaaacac aaattccaga ctatgctgag
     8521 cttattgtta agtttcttga tgccttgatt gacacgtacc tgcctggaat tgatgaagaa
     8581 accagtgaag aatccctcct gactcccaca tctccttacc ctcctgcact gcagagccag
     8641 cttagtatca ctgccaacct taacctttct aattccatga cctcacttgc aacttcccag
     8701 cattccccag gaatcgacaa ggagaacgtt gaactctccc ctaccactgg ccactgtaac
     8761 agtggacgaa ctcgccacgg atccgcaagc caagtgcaga agcaaagaag cgctggcagt
     8821 ttcaaacgta atagcattaa gaagatcgtg tgaagcttgc ttgctttctt ttttaaaatc
     8881 aacttaacat gggctcttca ctagtgaccc cttccctgtc cttgcccttt ccccccatgt
     8941 tgtaatgctg cacttcctgt tttataatga acccatccgg tttgccatgt tgccagatga
     9001 tcaactcttc gaagccttgc ctaaatttaa tgctgccttt tctttaactt tttttcttct
     9061 acttttggcg tgtatctggt atatgtaagt gttcagaaca actgcaaaga aagtgggagg
     9121 tcaggaaact tttaactgag aaatctcaat tgtaagagag gatgaattct tgaatactgc
     9181 tactactggc cagtgatgaa agccatttgc acagagctct gccttctgtg gttttccctt
     9241 cttcatccta cagagtaaag tgttagtcct atttatacat ttttcaagat acaagtttat
     9301 gagagaaata gtattataac cccagtatgt ttaatctttt agctgtggac ttttttttta
     9361 accgtacaaa actgaaagaa ccatagaggt caagcctcag tgacttgaca ccataaagcc
     9421 acagacaagg tacttggggg ggagggcagg gaaatttcat attttatagt ggattcttaa
     9481 gaaatactaa cacttgagta ttagcaataa ttacaggaaa ataagtgcga ccacatatat
     9541 cttaacatta ctgaattaaa actatggctt ctaagtcctt atccaaactc agtcatccaa
     9601 actagtttat ttttttctcc agttgattat cttttaattt ttaattttgc taaaggtggt
     9661 ttttttgtgt tttgtttttt gtaaaccaaa actatactaa gtatagtaat tatatatata
     9721 tatatatttt ttcccctccc cctcttcttt cctaactaat tctgagcagg gtaatcagtg
     9781 aacaaagtgt tgaaaattgt tcccagaagg taattttcat agatgtttgc attagctcca
     9841 tagcaaaatg gaatggtacg tgacatttag ggtagctgat atttttattt tgttaaataa
     9901 tttccaagaa tagagtatgg tgtatattat aaatttcttt gataagatgt attttgaatg
     9961 tcttttaatc ttcctcctcc tctccaaaaa aatcagaaac ctctttaaga aaacatgtag
    10021 gttatatatg ctagaattgc atttaatcac tgtgaaaaga ctggtcagcc tgcattagta
    10081 tgacagtagg ggggctgtta gaattgctgc tatactggtg gtatggatta tcatggcatt
    10141 ggaattttca tagtaatgca gatccaattt ctttgtggta cctgcagttt acaaaataat
    10201 ttgacttcag tgagcatatt ggtatctgga tgttccaatt tagaactaaa ccatatttat
    10261 tacaaaaaga tattaatccc tctactccca ggttcccttt atatgttaag atataatggc
    10321 tttgaggggg gaaaaaataa acctagggga gaggggagtt tcctgtagtg ctgtttcatt
    10381 agaggatttc agtaaattaa attccacagc taattcaata aataatggta catttaagtg
    10441 ttctgatttt aataatatat ttcacattta tccacacagt aacaatgtaa tatgttaatg
    10501 taaataaaat tggttttgat actcagaaat aacaagaatt taatttttta aatttgttta
    10561 cagtcctggg aaaagtaaga attatttgcc aaaataagag gaaagaaaac cttagtatta
    10621 ttaatgagtt taccatagaa ttgttggaaa tactgaagac aggtgcaatt tactaaactt
    10681 ttgtttttaa actattgtag aggctgcatt agaagaaaat gtttataatg acagagcaac
    10741 tatgactata taaaaaagct gaaattagaa ctgtgtttag aaatagatca gtaacccagt
    10801 gccaaggatg ccaagctgcc accatggtct tggctctccc acaacccagt gtttctgggg
    10861 taagtttcac agtttctagg ccctggaata gcaggcagtg taagcctttg ataactttag
    10921 ttcgatgttt ttcttgtttt tgtttgttgg tttggtgcat atgatagtgg gtgttatgct
    10981 attttgctct tcccatcaaa ataaagaaac ttccagaggt ttactgttaa aaatactgat
    11041 atttccataa acgggtttac caagggtgta gtatttcata ccgcctgaaa tgatcagcat
    11101 tggcacaaat caaaattcag ccgcctttga aatgcaaaaa tacctttgac tagtaagtac
    11161 atcctaggag tttgaaaact taactaaggt ttaaaattta ccttgtttaa agaacttctg
    11221 acttttgagg aaaatctagc tttccaagta actaaaatgt acatgagata aacctctcac
    11281 cactatgtgt cccttgagaa atgcaacact tttttagtct tcatacttgt aatctataaa
    11341 agaaattctg aagtttagac caagttgccc atttctgcgt aattgacata agttctgtta
    11401 aaaatattat aagtaattcg tttcggtttg tagatgtttc ccctgacttg ttaaagagga
    11461 aaccaggaac tcagtcatgt ttttgtcctg gataatctac ctgttatgcc agtactccca
    11521 tccgaggggc atgcccttag ttgcccagat ggagatgcag ttcagtagat ttggggcaaa
    11581 gtggctacag ctctgtcttc cattcactca acacctgttc atgactgagc caggtgccca
    11641 ggacacatcc taaacagtca gcttctatcc tgtgtcctag ttggggagac agagtgccag
    11701 ccagcaaccc tcccaggttt gtaggtttta ggggttttca gttttgtttg ggttttttgt
    11761 tttttgtttt tgtttctaca tccttccccg actcccaggc ataatgaggc atgtcttact
    11821 caatgttatg caatggattt aggcaaaaat tcattcttag tgtcagccac acaatttttt
    11881 ttaatgcagt atattcacct gtaaatagtt tgtgtaaaat ttgacaaaaa aagtatattt
    11941 actatactgt aaatatatgt gatgatatat tgtattattt tgcttttttg taaagcagtt
    12001 agttgctgca catggataac aacaaaaatt tgattattct cgtgttagta ttgttaactt
    12061 ctttttgcga ctgcgttaca tcatttaaag aaaatgctgt gtattgtaaa cttaaattgt
    12121 atatgataac ttactgtcct ttccatccgg gcctaaactt tggcagttcc tttgtctaca
    12181 accttgttaa tactgtaaac agttgtacgc cagcaggaaa aatactgccc aacagacaaa
    12241 atcgatcatt gtaggggaaa atcatagaaa tccatttcag atctttattg ttcctcaccc
    12301 cattttcctc cttgtgtatg tacttccccc accccccttt ttttaagtaa aatgtaaatt
    12361 caatctgctc taa
//
LOCUS       NM_001042493            2438 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens small integral membrane protein 8 (SMIM8), transcript
            variant 1, mRNA.
ACCESSION   NM_001042493
VERSION     NM_001042493.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2438)
  AUTHORS   Deng X, Sabino EC, Cunha-Neto E, Ribeiro AL, Ianni B, Mady C, Busch
            MP and Seielstad M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2438)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1016859.1,
            SRR1803617.49432.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2151119 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000392863.6/ ENSP00000376603.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG534658.1, AK311963.1, AL096817.12 and AI239454.1.
            On Nov 23, 2018 this sequence version replaced NM_001042493.2.
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 and 2 encode the same isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2438
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q15"
     gene            1..2438
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /note="small integral membrane protein 8"
                     /db_xref="GeneID:57150"
                     /db_xref="HGNC:HGNC:21401"
     CDS             90..383
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     UPF0708 protein C6orf162"
                     /codon_start=1
                     /product="small integral membrane protein 8 isoform 1"
                     /protein_id="NP_001035958.1"
                     /db_xref="CCDS:CCDS34496.1"
                     /db_xref="GeneID:57150"
                     /db_xref="HGNC:HGNC:21401"
                     /translation="MSSAPEPPTFKKEPPKEKEFQSPGLRGVRTTTLFRAVNPELFIKP
                     NKPVMAFGLVTLSLCVAYIGYLHAIQENKKDLYEAIDSEGHSYMRRKTSKWD"
     misc_feature    90..161
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96KF7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    231..299
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96KF7.2);
                     transmembrane region"
     regulatory      668..673
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /note="hexamer: AATAAA"
     polyA_site      691
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /note="major polyA site"
     regulatory      1841..1846
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /note="hexamer: AATAAA"
     polyA_site      1868
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /note="major polyA site"
     polyA_site      1937
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
     regulatory      2412..2417
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /note="hexamer: AATAAA"
     polyA_site      2438
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
ORIGIN
        1 ggggcggggc gtctcgggcg aggagaggag gtgaccccgc gaaaggagga tggacagaag
       61 aaaaagataa taaatcatca ttgatcaaga tgtcttcagc acctgagcct ccaacattca
      121 aaaaggaacc acccaaagag aaagagtttc aaagcccagg gctcagaggg gtgcgcacaa
      181 caaccttatt tcgtgctgtg aatccagagc tcttcattaa acctaacaaa cctgtaatgg
      241 ctttcggatt ggtaactctt tcactttgcg tggcatatat tggttatcta catgcaatac
      301 aagagaataa aaaggacctc tatgaagcta ttgatagtga ggggcacagt tatatgaggc
      361 ggaaaacatc caaatgggat tagtagtgct ggttagtgca gatggacctt tattaaaggt
      421 tctgaaatct tcaaatgaaa gaccttgtga gtgtacagta tcatgtttct tgttctagaa
      481 catgctaatg aagagagaag atagcagttg caaccagaca actgtcgtaa attttgtcct
      541 ttcacagctg cagccattat ctcattcttt ttccacagag tgagcgtcat aatatttttc
      601 tttccttacc tcttataaaa gtgccatgag aatggaagtt gtttttgtta attattaaat
      661 tctgtataat aaaagtaccc atgctgttaa atttgcatga tgttttaaat attttaagat
      721 gaattatgcc ggtgcagctg tcgtgaaagt ttacttgtgt tttgctactt gcaaaggaaa
      781 tgttcatgtt ctccctggca tagaacctat atttttaaag aaagataaat agaaatttta
      841 aggcctgaag tcaatattaa aaatatgaga tatgagaaac tgagttggct ctgacaagta
      901 gtttttatag tgtcacaaat ggttcatata tttcagtttc cattttagct atttttggga
      961 cagaatttta ttttaatgga aaagatcctt ccactcagct actaaaataa ggattaagaa
     1021 tatcccagag taattggagt ttttctttaa aaaaaaaaaa aaagtatgtt ttactgaggt
     1081 atgatgattt tgactacaac taaatgttat ctattttagt gtttatgtta attaatgtta
     1141 attaattttg tttatgttaa tttgtgttaa ttaatgttac tgtaatgtta taaacataag
     1201 accaagtgtt cttatagtta tttaaaaact acaactactc aatggataag gaatagataa
     1261 ggtctcctta ttgtaccttt tttttctttt gaagtttata tgccagcagg cctttttgtt
     1321 tttttccttt tcagaatgtt tcttattctc tgaagcatca gcattttgaa gtgtctttta
     1381 tggaagtggg gacagaaatg ggggtaaaaa tgagtgtaaa caaagcctag ccctacggtc
     1441 agtacccact ggaggtgaga agcagaatgg ccttggttgt cctggcacct ggcccagggg
     1501 cctaggacag aggtcaaggc taggcccctg tgtctggcca gattctgcct tatagaattc
     1561 aaatctttct tacaagggtt ctggacccgt ttcatttcta gatatatacc taattctcca
     1621 aatcattgtc attgggcctc agtagtaaat cttacctctg aagtcttgct tcagtcgcta
     1681 ttaatattac caagtaataa taacagcaca ggcagagttt atcataatgt tatttttaat
     1741 ttgtcatact ttattatggt tttgtaaggt acatgaaaat gtaattatgt gtgatttgta
     1801 ggtattaaag aacttagcta attgaattta catgaaacta aataaaatct ttactactga
     1861 gccccaaata tgtatttgct atgcctgtct gtataatgta cttcatatag tttaaaatgc
     1921 acttcagtga tacaaaatcc cttttaaaga ctcttttgtt tttgttttcc ctgtgtattt
     1981 tggctatcac aaaactaggg ttcttctgtt tttaacttat gcatttaatg acacattgcc
     2041 atcttttaga attttttact attcaacaga ataagctgat gtttggtggc agaggagtta
     2101 ttagttgcgt gaactgtcaa gagattgcag tgcaggaggg caacagaaac tgtacaaggt
     2161 gcagacttga gtcatgtaag atctatgtga atgaaccaaa gtaactagag tcagtcaagc
     2221 acaaagctgt gaaaagtagt gtgtggaaag aatcatactg aattttagga acaagtacct
     2281 gactatgata ctttttacag agtgactaca agttgtagga cagtctttgt gtgtgctgag
     2341 tgtcaacagc tgcctgccta tgtgttgatg ttttcatcct ttctttgttg aatgagggta
     2401 taaccatcaa aaataaaata cctttcaaat agtccaaa
//
LOCUS       NM_001042500             494 bp    mRNA    linear   PRI 17-APR-2022
DEFINITION  Homo sapiens defensin alpha 1B (DEFA1B), transcript variant 2, mRNA.
ACCESSION   NM_001042500
VERSION     NM_001042500.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 494)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 494)
  AUTHORS   Ugurel E, Erdag E, Kucukali CI, Olcay A, Sanli E, Akbayir E,
            Kurtuncu M, Gunduz T, Yilmaz V, Tuzun E and Vural B.
  TITLE     Enhanced NLRP3 and DEFA1B Expression During the Active Stage of
            Parenchymal Neuro-Behcet's Disease
  JOURNAL   In Vivo 33 (5), 1493-1497 (2019)
   PUBMED   31471397
  REMARK    GeneRIF: our findings suggest that DEFA1B and NLRP3 gene expression
            levels can be used as valuable biologic markers for estimation of
            disease activity in NBD and as potential targets for future
            therapeutic trials for inflammatory disorders.
REFERENCE   3  (bases 1 to 494)
  AUTHORS   Zou G and de Leeuw E.
  TITLE     Neutralization of Pseudomonas auruginosa Exotoxin A by human
            neutrophil peptide 1
  JOURNAL   Biochem Biophys Res Commun 501 (2), 454-457 (2018)
   PUBMED   29738776
  REMARK    GeneRIF: Human Neutrophil Peptide 1 directly binds and neutralizes
            Exotoxin A of Pseudomonas aeruginosa.
REFERENCE   4  (bases 1 to 494)
  AUTHORS   Pausch,T., Adolph,S., Felix,K., Bauer,A.S., Bergmann,F., Werner,J.
            and Hartwig,W.
  TITLE     Antimicrobial Peptide Human Neutrophil Peptide 1 as a Potential Link
            Between Chronic Inflammation and Ductal Adenocarcinoma of the
            Pancreas
  JOURNAL   Pancreas 47 (5), 561-567 (2018)
   PUBMED   29683978
  REMARK    GeneRIF: Inflammatory regulation of defensin alpha 1 (human
            neutrophil peptide 1; HNP-1) in pancreatic ductal adenocarcinoma
            (PDAC) tissue and cells indicates that HNP-1 may be a link between
            chronic inflammation and malignant transformation in the pancreas.
REFERENCE   5  (bases 1 to 494)
  AUTHORS   Barallobre-Barreiro J, Gupta SK, Zoccarato A, Kitazume-Taneike R,
            Fava M, Yin X, Werner T, Hirt MN, Zampetaki A, Viviano A, Chong M,
            Bern M, Kourliouros A, Domenech N, Willeit P, Shah AM, Jahangiri M,
            Schaefer L, Fischer JW, Iozzo RV, Viner R, Thum T, Heineke J,
            Kichler A, Otsu K and Mayr M.
  TITLE     Glycoproteomics Reveals Decorin Peptides With Anti-Myostatin
            Activity in Human Atrial Fibrillation
  JOURNAL   Circulation 134 (11), 817-832 (2016)
   PUBMED   27559042
REFERENCE   6  (bases 1 to 494)
  AUTHORS   Pardi A, Zhang XL, Selsted ME, Skalicky JJ and Yip PF.
  TITLE     NMR studies of defensin antimicrobial peptides. 2. Three-dimensional
            structures of rabbit NP-2 and human HNP-1
  JOURNAL   Biochemistry 31 (46), 11357-11364 (1992)
   PUBMED   1445873
REFERENCE   7  (bases 1 to 494)
  AUTHORS   Zhang XL, Selsted ME and Pardi A.
  TITLE     NMR studies of defensin antimicrobial peptides. 1. Resonance
            assignment and secondary structure determination of rabbit NP-2 and
            human HNP-1
  JOURNAL   Biochemistry 31 (46), 11348-11356 (1992)
   PUBMED   1445872
REFERENCE   8  (bases 1 to 494)
  AUTHORS   Valore EV and Ganz T.
  TITLE     Posttranslational processing of defensins in immature human myeloid
            cells
  JOURNAL   Blood 79 (6), 1538-1544 (1992)
   PUBMED   1339298
REFERENCE   9  (bases 1 to 494)
  AUTHORS   Bateman A, Singh A, Shustik C, Mars WM and Solomon S.
  TITLE     The isolation and identification of multiple forms of the neutrophil
            granule peptides from human leukemic cells
  JOURNAL   J Biol Chem 266 (12), 7524-7530 (1991)
   PUBMED   2019582
REFERENCE   10  (bases 1 to 494)
  AUTHORS   Ganz,T., Selsted,M.E., Szklarek,D., Harwig,S.S., Daher,K.,
            Bainton,D.F. and Lehrer,R.I.
  TITLE     Defensins. Natural peptide antibiotics of human neutrophils
  JOURNAL   J Clin Invest 76 (4), 1427-1435 (1985)
   PUBMED   2997278
  REMARK    GeneRIF: DEFA1B encodes an antibacterial peptide that is
            bacteriocidal against S. aureus, E. coli, and P. aeruginosa.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BQ188934.1, BU616082.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2162823
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000382689.8/ ENSP00000372136.3
            Protein has antimicrobial activity :: PMID: 2997278
            RefSeq Select criteria             :: based on expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF238378.5.
            On Nov 20, 2020 this sequence version replaced NM_001042500.1.
            Summary: Defensins are a family of antimicrobial and cytotoxic
            peptides thought to be involved in host defense. They are abundant
            in the granules of neutrophils and also found in the epithelia of
            mucosal surfaces such as those of the intestine, respiratory tract,
            urinary tract, and vagina. Members of the defensin family are
            highly similar in protein sequence and distinguished by a conserved
            cysteine motif. The protein encoded by this gene, defensin, alpha
            1, is found in the microbicidal granules of neutrophils and likely
            plays a role in phagocyte-mediated host defense. Several alpha
            defensin genes are clustered on chromosome 8. This gene differs
            from defensin, alpha 3 by only one amino acid. This gene and the
            gene encoding defensin, alpha 3 are both subject to copy number
            variation. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Oct 2014].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..494
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..494
                     /gene="DEFA1B"
                     /gene_synonym="HNP-1; HP-1; HP1"
                     /note="defensin alpha 1B"
                     /db_xref="GeneID:728358"
                     /db_xref="HGNC:HGNC:33596"
     CDS             89..373
                     /gene="DEFA1B"
                     /gene_synonym="HNP-1; HP-1; HP1"
                     /note="isoform 2 preproprotein is encoded by transcript
                     variant 2; neutrophil defensin 1"
                     /codon_start=1
                     /product="neutrophil defensin 1 isoform 2 preproprotein"
                     /protein_id="NP_001035965.1"
                     /db_xref="CCDS:CCDS43691.1"
                     /db_xref="GeneID:728358"
                     /db_xref="HGNC:HGNC:33596"
                     /translation="MRTLAILAAILLVALQAQAEPLQARADEVAAAPEQIAADIPEVVV
                     SLAWDESLAPKHPGSRKNMACYCRIPACIAGERRYGTCIYQGRLWAFCC"
     sig_peptide     89..145
                     /gene="DEFA1B"
                     /gene_synonym="HNP-1; HP-1; HP1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     proprotein      146..370
                     /gene="DEFA1B"
                     /gene_synonym="HNP-1; HP-1; HP1"
                     /product="neutrophil defensin 1 isoform 2 proprotein"
     mat_peptide     281..370
                     /gene="DEFA1B"
                     /gene_synonym="HNP-1; HP-1; HP1"
                     /product="neutrophil defensin 1"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     2997278]"
                     /exception="alternative processing"
     mat_peptide     284..370
                     /gene="DEFA1B"
                     /gene_synonym="HNP-1; HP-1; HP1"
                     /product="neutrophil defensin 2"
                     /experiment="DESCRIPTION:antimicrobial peptide[PMID:
                     2997278]"
                     /exception="alternative processing"
ORIGIN
        1 gctccttgct atagaagacc tgggacagag gactgctgtc tgccctctct ggtcaccctg
       61 cctagctaga ggatctgtga ccccagccat gaggaccctc gccatccttg ctgccattct
      121 cctggtggcc ctgcaggccc aggctgagcc actccaggca agagctgatg aggttgctgc
      181 agccccggag cagattgcag cggacatccc agaagtggtt gtttcccttg catgggacga
      241 aagcttggct ccaaagcatc caggctcaag gaaaaacatg gcctgctatt gcagaatacc
      301 agcgtgcatt gcaggagaac gtcgctatgg aacctgcatc taccagggaa gactctgggc
      361 attctgctgc tgagcttgca gaaaaagaaa aatgagctca aaatttgctt tgagagctac
      421 agggaattgc tattactcct gtaccttctg ctcaatttcc tttcctcatc ccaaataaat
      481 gccttgttac aaga
//
LOCUS       NM_001042506            3168 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens poly(A) binding protein cytoplasmic 1 like 2B
            (PABPC1L2B), mRNA.
ACCESSION   NM_001042506
VERSION     NM_001042506.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3168)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC041956.1, SRR3476690.764702.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000373521.4/ ENSP00000362621.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC234776.4.
            On Dec 4, 2019 this sequence version replaced NM_001042506.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3168
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.2"
     gene            1..3168
                     /gene="PABPC1L2B"
                     /gene_synonym="RBM32B"
                     /note="poly(A) binding protein cytoplasmic 1 like 2B"
                     /db_xref="GeneID:645974"
                     /db_xref="HGNC:HGNC:31852"
     CDS             705..1307
                     /gene="PABPC1L2B"
                     /gene_synonym="RBM32B"
                     /note="RNA binding motif protein 32B; RNA-binding protein
                     32; RNA-binding motif protein 32"
                     /codon_start=1
                     /product="polyadenylate-binding protein 1-like 2"
                     /protein_id="NP_001035971.1"
                     /db_xref="CCDS:CCDS43972.1"
                     /db_xref="GeneID:645974"
                     /db_xref="HGNC:HGNC:31852"
                     /translation="MASLYVGDLHPEVTEAMLYEKFSPAGPILSIRICRDKITRRSLGY
                     AYVNYQQPVDAKRALETLNFDVIKGRPVRIMWSQRDPSLRKSGVGNVFIKNLGKTIDNK
                     ALYNIFSAFGNILSCKVACDEKGPKGYGFVHFQKQESAERAIDVMNGMFLNYRKIFVGR
                     FKSHKEREAERGAWARQSTSADVKDFEEDTDEEATLR"
     misc_feature    1212..1304
                     /gene="PABPC1L2B"
                     /gene_synonym="RBM32B"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JQF8.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2754..2759
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PABPC1L2B"
                     /gene_synonym="RBM32B"
                     /note="hexamer: ATTAAA"
     polyA_site      2774
                     /gene="PABPC1L2B"
                     /gene_synonym="RBM32B"
                     /note="major polyA site"
     regulatory      3148..3153
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PABPC1L2B"
                     /gene_synonym="RBM32B"
                     /note="hexamer: ATTAAA"
     polyA_site      3168
                     /gene="PABPC1L2B"
                     /gene_synonym="RBM32B"
                     /note="major polyA site"
ORIGIN
        1 gcaccctgcg cgctagccca cgaccgagcg gcggcggcaa cagcagctgg ctgcaggctg
       61 cggcgactcg caccggcgcg ctcctggcag cacttgccat cccaggtgac ttgaactcgc
      121 cagttcggat cccctgcgcc agctcccgct cgcgcatcgg gtctgtgttc ccgcacccac
      181 ccgccctcct gccctcccgc cctcccccgc ctctccgtcc cccagctcgc gggaagggag
      241 gtcgcggcag cggcccggcg gcagcggcga ccgtggcgac agcagcgaca gtggcggcgg
      301 cggtggcggc agcggctgcg gcggcggcgg aggctgcggc ggcgaccgtg gcagaggcgg
      361 tggcggaggc ctccgtggcg gaggcggaag cagaggtaga ggctgaggtg gaggccgagg
      421 cctcaataga ggaggcagca tcggaggcca ccccggggga ggcggaggcc gcccgggtgg
      481 caacggtggt ggcggtggcg gagggcagcg cggccgaagc cgccgccgca gcggaggctg
      541 cggggccccc cttgggggag gcggaggcgg atgcggatgc ggatgcggat gcgaatgcga
      601 aggtggcggc cgaggtggcg gccgaggtgg cggctgcggc ggccgccgcg gatgcagatg
      661 cggatgagac cctcggtgac tgtgagggga acccagattt tcagatggcc tccctgtacg
      721 tgggcgacct gcaccctgag gtgaccgagg caatgctgta cgagaagttc agtccagctg
      781 ggcccatcct ctccatccgc atctgcaggg acaagatcac ccgccgctca ttgggctacg
      841 cgtatgtcaa ctaccagcaa ccggtggacg ccaagcgggc cctggagacc ctgaactttg
      901 atgtcataaa gggcaggcca gtgcgcatca tgtggtccca gagggacccg tcgctccgca
      961 agagcggggt gggcaacgtc ttcatcaaga acctgggcaa gaccatcgac aacaaggcgc
     1021 tgtacaacat cttctcggcg ttcggcaaca tcctctcctg caaagtggcc tgtgacgaaa
     1081 aggggcccaa gggctacggg ttcgtgcact tccaaaagca ggaatctgcg gagcgggcca
     1141 tcgatgtgat gaatggcatg ttcctgaact accgcaaaat tttcgtcggg agattcaagt
     1201 cgcataaaga acgagaggcc gaaaggggag cctgggccag gcagtccact agtgctgacg
     1261 tcaaggattt cgaggaagac accgacgagg aggccacctt gcgatgaaga catcccagga
     1321 gctagccagc cagcagagcc aaaccttggc tcacacccgg tttacaaccc cccaccccca
     1381 gccctccccc gccaacccac cagcagtgta tttattgtat tgagagtgca ggtctctctc
     1441 tctctctctc tccccttctc tctccccgct tcctattttc tccctccacc tctcctctcc
     1501 ttcccttcct ctcccccgcc cacccccacc aagggcgttg tgaataatct tactaatctg
     1561 tgccatttgt aggttaaagg ctgcctcttc tccctgtggt ttggtttaaa aagcattttc
     1621 attctctctt tgtttactgc acaggtggta caatttcatg gtagaatcat cagaaaggag
     1681 aaggatatca gatgagggaa gaaacaagag agtaattgct cccctggtcc tactccccag
     1741 agagaaccac ttttaccttt ttggtgtgct gcttttccag gctctcttct ctccctctct
     1801 ctcctttgct cacccccacc ccgccttccc ttttaacaca ccgttataga atggttcatg
     1861 tatgtggtgt ttcttaacct gctttttcag caactaaaac caaacaaaaa tcaacccatt
     1921 gaacttcttt ccatgttatc aacaggctta tgaaatgtca tcttcagtgc ctgcagagtg
     1981 ctccagtgta tccgtggacc ttaacatttc tgtaatcatt cccgcattgt tggacattca
     2041 ggtggtgcct agttctttcc ctgtgtttaa gaccaacatt gcgtgctctg tgctttgatg
     2101 agtgaatcct tccttgtcaa gccaaatctt tgctagcatc ccggtggtct ccttaactgc
     2161 ggacttgcaa gatccacata tagacatttt aaagactttt cctgtgtgtt gccaaaaggc
     2221 ccccttcata agcattgtac cgatttgcac tcgtgccggc cagcgcagct agtaaagagt
     2281 atgcccgttt cccctgcata gcctcctggt cactgtaatt gatcgtgtgt gtgcgtgcgt
     2341 gcgtgtgtgc atgcgtgtgt gtgtctttgt gtgtgtgtct tggccagctt ggcgggctgc
     2401 aaagggtgtt tccctgtcct cagtggtttt gctgcaatca aacactgttt attaccccct
     2461 tcccctgtgc ccacttcctg tccttttccc tgttgtcaga aaaataattc agcgtcattg
     2521 caggaaaaaa ataatcacga agcagacaag ttaacagaag aaaattaatg tcaccagtaa
     2581 tcatttctga tgattactta tacattcctg aaacattttc atctgtatct gccctgtatt
     2641 tttcatgtga tatatatgtg aaattattgt atatactgtt tcaatatctg ctttttcaca
     2701 cagaaatata tattatagac atagatttat agatattctt gaactttcat gtcattaaat
     2761 attcttctaa aatagttttc atggatgttt agtgctctaa tatgtgattg ggcttcatag
     2821 agtgatagat atatatacat attagatata gatataggga tatatttgtt ttaagtagtt
     2881 attggacgtc tgggttgttt cattttgttt tcttatgcaa gccaaagctg ccaacaagat
     2941 cacagtgcac aaacattaca ttcatgttta tttcctgaac aaaagttaat agtataattg
     3001 aaggatgaaa agatatggga ggtttaaaat cttctttttc ccttctttag taagtgacca
     3061 ttgataaaga tagtaccaat ttaccctcat aaaatatgca gatattgtga gtgtacctgg
     3121 atacctgtac agtttttgag acttggtatt aaattattta taatttga
//
LOCUS       NM_001042507             499 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens galectin 7B (LGALS7B), mRNA.
ACCESSION   NM_001042507
VERSION     NM_001042507.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 499)
  AUTHORS   Lenza MP, Oyenarte I, Diercks T, Quintana JI, Gimeno A, Coelho H,
            Diniz A, Peccati F, Delgado S, Bosch A, Valle M, Millet O, Abrescia
            NGA, Palazon A, Marcelo F, Jimenez-Oses G, Jimenez-Barbero J, Arda A
            and Ereno-Orbea J.
  TITLE     Structural Characterization of N-Linked Glycans in the Receptor
            Binding Domain of the SARS-CoV-2 Spike Protein and their
            Interactions with Human Lectins
  JOURNAL   Angew Chem Int Ed Engl 59 (52), 23763-23771 (2020)
   PUBMED   32915505
REFERENCE   2  (bases 1 to 499)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 499)
  AUTHORS   Menkhorst E, Koga K, Van Sinderen M and Dimitriadis E.
  TITLE     Galectin-7 serum levels are altered prior to the onset of
            pre-eclampsia
  JOURNAL   Placenta 35 (4), 281-285 (2014)
   PUBMED   24534543
  REMARK    GeneRIF: serum concentration was significantly elevated in women
            (weeks 10-12 and 17-20) who subsequently developed pre-eclampsia
REFERENCE   4  (bases 1 to 499)
  AUTHORS   Gonzalez-Begne M, Lu B, Han X, Hagen FK, Hand AR, Melvin JE and
            Yates JR.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   5  (bases 1 to 499)
  AUTHORS   Saussez S, Decaestecker C, Lorfevre F, Chevalier D, Mortuaire G,
            Kaltner H, Andre S, Toubeau G, Gabius HJ and Leroy X.
  TITLE     Increased expression and altered intracellular distribution of
            adhesion/growth-regulatory lectins galectins-1 and -7 during tumour
            progression in hypopharyngeal and laryngeal squamous cell carcinomas
  JOURNAL   Histopathology 52 (4), 483-493 (2008)
   PUBMED   18315601
  REMARK    GeneRIF: An association was seen between the level of presence of
            galectins-1 and -7 and neoplastic progression of hypopharyngeal and
            laryngeal squamous cell carcinomas.
REFERENCE   6  (bases 1 to 499)
  AUTHORS   Kopitz J, Andre S, von Reitzenstein C, Versluis K, Kaltner H,
            Pieters RJ, Wasano K, Kuwabara I, Liu FT, Cantz M, Heck AJ and
            Gabius HJ.
  TITLE     Homodimeric galectin-7 (p53-induced gene 1) is a negative growth
            regulator for human neuroblastoma cells
  JOURNAL   Oncogene 22 (40), 6277-6288 (2003)
   PUBMED   13679866
REFERENCE   7  (bases 1 to 499)
  AUTHORS   Kuwabara I, Kuwabara Y, Yang RY, Schuler M, Green DR, Zuraw BL, Hsu
            DK and Liu FT.
  TITLE     Galectin-7 (PIG1) exhibits pro-apoptotic function through JNK
            activation and mitochondrial cytochrome c release
  JOURNAL   J Biol Chem 277 (5), 3487-3497 (2002)
   PUBMED   11706006
REFERENCE   8  (bases 1 to 499)
  AUTHORS   Leonidas DD, Vatzaki EH, Vorum H, Celis JE, Madsen P and Acharya KR.
  TITLE     Structural basis for the recognition of carbohydrates by human
            galectin-7
  JOURNAL   Biochemistry 37 (40), 13930-13940 (1998)
   PUBMED   9760227
REFERENCE   9  (bases 1 to 499)
  AUTHORS   Magnaldo T, Bernerd F and Darmon M.
  TITLE     Galectin-7, a human 14-kDa S-lectin, specifically expressed in
            keratinocytes and sensitive to retinoic acid
  JOURNAL   Dev Biol 168 (2), 259-271 (1995)
   PUBMED   7729568
REFERENCE   10  (bases 1 to 499)
  AUTHORS   Madsen P, Rasmussen HH, Flint T, Gromov P, Kruse TA, Honore B, Vorum
            H and Celis JE.
  TITLE     Cloning, expression, and chromosome mapping of human galectin-7
  JOURNAL   J Biol Chem 270 (11), 5823-5829 (1995)
   PUBMED   7534301
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2145893,
            SAMEA2147596 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000314980.5/ ENSP00000313571.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022144.8, L07769.1,
            AW015224.1 and BC042911.2.
            On May 17, 2019 this sequence version replaced NM_001042507.3.
            Summary: The galectins are a family of beta-galactoside-binding
            proteins implicated in modulating cell-cell and cell-matrix
            interactions. Differential and in situ hybridization studies
            indicate that this lectin is specifically expressed in
            keratinocytes and found mainly in stratified squamous epithelium. A
            duplicate copy of this gene (GeneID:3963) is found adjacent to, but
            on the opposite strand on chromosome 19. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..499
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..499
                     /gene="LGALS7B"
                     /gene_synonym="Gal-7; GAL7; HKL-14; LGALS7; PI7"
                     /note="galectin 7B"
                     /db_xref="GeneID:653499"
                     /db_xref="HGNC:HGNC:34447"
                     /db_xref="MIM:617139"
     CDS             28..438
                     /gene="LGALS7B"
                     /gene_synonym="Gal-7; GAL7; HKL-14; LGALS7; PI7"
                     /note="keratinocyte lectin 14; p53-induced protein 1;
                     lectin galactoside-binding soluble 7; p53-induced gene 1
                     protein; lectin, galactoside-binding, soluble, 7B"
                     /codon_start=1
                     /product="galectin-7"
                     /protein_id="NP_001035972.1"
                     /db_xref="CCDS:CCDS42565.1"
                     /db_xref="GeneID:653499"
                     /db_xref="HGNC:HGNC:34447"
                     /db_xref="MIM:617139"
                     /translation="MSNVPHKSSLPEGIRPGTVLRIRGLVPPNASRFHVNLLCGEEQGS
                     DAALHFNPRLDTSEVVFNSKEQGSWGREERGPGVPFQRGQPFEVLIIASDDGFKAVVGD
                     AQYHHFRHRLPLARVRLVEVGGDVQLDSVRIF"
ORIGIN
        1 ccacggctgc ccaacccggt cccagccatg tccaacgtcc cccacaagtc ctcactgccc
       61 gagggcatcc gccctggcac ggtgctgaga attcgcggct tggttcctcc caatgccagc
      121 aggttccatg taaacctgct gtgcggggag gagcagggct ccgatgccgc cctgcatttc
      181 aacccccggc tggacacgtc ggaggtggtc ttcaacagca aggagcaagg ctcctggggc
      241 cgcgaggagc gcgggccggg cgttcctttc cagcgcgggc agcccttcga ggtgctcatc
      301 atcgcgtcag acgacggctt caaggccgtg gttggggacg cccagtacca ccacttccgc
      361 caccgcctgc cgctggcgcg cgtgcgcctg gtggaggtgg gcggggacgt gcagctggac
      421 tccgtgagga tcttctgagc agaagcccag gcgggcccgg ggccttggct ggcaaataaa
      481 gcgttagccc gcagcgcga
//
LOCUS       NM_001042517            4745 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens diaphanous related formin 3 (DIAPH3), transcript
            variant 1, mRNA.
ACCESSION   NM_001042517
VERSION     NM_001042517.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4745)
  AUTHORS   Zhang K, Huang M, Li A, Wen J, Yan L, Li Y, Guo L, Senthil KS, Zhou
            Y, Chen G, Liu Y, Zhang X, Yao X, Qin D and Su H.
  TITLE     DIAPH3 condensates formed by liquid-liquid phase separation act as a
            regulatory hub for stress-induced actin cytoskeleton remodeling
  JOURNAL   Cell Rep 42 (1), 111986 (2023)
   PUBMED   36640348
  REMARK    GeneRIF: DIAPH3 condensates formed by liquid-liquid phase separation
            act as a regulatory hub for stress-induced actin cytoskeleton
            remodeling.
REFERENCE   2  (bases 1 to 4745)
  AUTHORS   Chen X, Xie L, Qiao K, Zhu X, Ren J and Tan Y.
  TITLE     The pan-cancer analysis identified DIAPH3 as a diagnostic biomarker
            of clinical cancer
  JOURNAL   Aging (Albany NY) 15 (3), 689-704 (2023)
   PUBMED   36750200
  REMARK    GeneRIF: The pan-cancer analysis identified DIAPH3 as a diagnostic
            biomarker of clinical cancer.
REFERENCE   3  (bases 1 to 4745)
  AUTHORS   Huang R, Wu C, Wen J, Yu J, Zhu H, Yu J and Zou Z.
  TITLE     DIAPH3 is a prognostic biomarker and inhibit colorectal cancer
            progression through maintaining EGFR degradation
  JOURNAL   Cancer Med 11 (23), 4688-4702 (2022)
   PUBMED   35538918
  REMARK    GeneRIF: DIAPH3 is a prognostic biomarker and inhibit colorectal
            cancer progression through maintaining EGFR degradation.
REFERENCE   4  (bases 1 to 4745)
  AUTHORS   Stoyanov GS, Lyutfi E, Georgieva R, Georgiev R, Dzhenkov D, Petkova
            L, Ivanov BD, Kaprelyan A and Ghenev P.
  TITLE     Diaph3 underlines tumor cell heterogeneity in glioblastoma with
            implications for treatment modalities resistance
  JOURNAL   J Neurooncol 157 (3), 523-531 (2022)
   PUBMED   35380294
  REMARK    GeneRIF: Diaph3 underlines tumor cell heterogeneity in glioblastoma
            with implications for treatment modalities resistance.
REFERENCE   5  (bases 1 to 4745)
  AUTHORS   Rong Y, Gao J, Kuang T, Chen J, Li JA, Huang Y, Xin H, Fang Y, Han
            X, Sun LQ, Deng YZ, Li Z and Lou W.
  TITLE     DIAPH3 promotes pancreatic cancer progression by activating
            selenoprotein TrxR1-mediated antioxidant effects
  JOURNAL   J Cell Mol Med 25 (4), 2163-2175 (2021)
   PUBMED   33345387
  REMARK    GeneRIF: DIAPH3 promotes pancreatic cancer progression by activating
            selenoprotein TrxR1-mediated antioxidant effects.
REFERENCE   6  (bases 1 to 4745)
  AUTHORS   Stastna J, Pan X, Wang H, Kollmannsperger A, Kutscheidt S, Lohmann
            V, Grosse R and Fackler OT.
  TITLE     Differing and isoform-specific roles for the formin DIAPH3 in plasma
            membrane blebbing and filopodia formation
  JOURNAL   Cell Res 22 (4), 728-745 (2012)
   PUBMED   22184005
  REMARK    GeneRIF: isoform-selective actin assembly by DIAPH3 exerts specific
            and differentially regulated functions during cell adhesion and
            motility.
REFERENCE   7  (bases 1 to 4745)
  AUTHORS   Wallar BJ, Deward AD, Resau JH and Alberts AS.
  TITLE     RhoB and the mammalian Diaphanous-related formin mDia2 in endosome
            trafficking
  JOURNAL   Exp Cell Res 313 (3), 560-571 (2007)
   PUBMED   17198702
  REMARK    GeneRIF: These studies further suggest that Rho GTPases
            significantly influence the activity of mDia family formins in
            driving cellular membrane remodeling through the regulation of actin
            dynamics.
REFERENCE   8  (bases 1 to 4745)
  AUTHORS   Kim,T.B., Isaacson,B., Sivakumaran,T.A., Starr,A., Keats,B.J. and
            Lesperance,M.M.
  TITLE     A gene responsible for autosomal dominant auditory neuropathy
            (AUNA1) maps to 13q14-21
  JOURNAL   J Med Genet 41 (11), 872-876 (2004)
   PUBMED   15520414
REFERENCE   9  (bases 1 to 4745)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of human DIAPH3 gene in silico
  JOURNAL   Int J Mol Med 13 (3), 473-478 (2004)
   PUBMED   14767582
REFERENCE   10  (bases 1 to 4745)
  AUTHORS   Fisher,R.A., Edwards,Y.H., Putt,W., Potter,J. and Hopkinson,D.A.
  TITLE     An interpretation of human diaphorase isozymes in terms of three
            gene loci DIA1, DIA2 and DIA3
  JOURNAL   Ann Hum Genet 41 (2), 139-149 (1977)
   PUBMED   563699
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY750055.1, SRR7346977.1912237.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000400324.9/ ENSP00000383178.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356502.21, AK298509.1,
            AL390878.6, AY750055.1, AL359266.14 and CA310418.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001042517.1.
            Summary: This gene encodes a member of the diaphanous subfamily of
            the formin family. Members of this family are involved in actin
            remodeling and regulate cell movement and adhesion. Mutations in
            this gene are associated with autosomal dominant auditory
            neuropathy 1. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Apr
            2012].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4745
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q21.2"
     gene            1..4745
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="diaphanous related formin 3"
                     /db_xref="GeneID:81624"
                     /db_xref="HGNC:HGNC:15480"
                     /db_xref="MIM:614567"
     misc_feature    49..51
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="upstream in-frame stop codon"
     CDS             163..3744
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="isoform a is encoded by transcript variant 1;
                     diaphanous homolog 3"
                     /codon_start=1
                     /product="protein diaphanous homolog 3 isoform a"
                     /protein_id="NP_001035982.1"
                     /db_xref="CCDS:CCDS41898.1"
                     /db_xref="GeneID:81624"
                     /db_xref="HGNC:HGNC:15480"
                     /db_xref="MIM:614567"
                     /translation="MERHQPRLHHPAQGSAAGTPYPSSASLRGCRESKMPRRKGPQHPP
                     PPSGPEEPGEKRPKFHLNIRTLTDDMLDKFASIRIPGSKKERPPLPNLKTAFASSDCSA
                     APLEMMENFPKPLSENELLELFEKMMEDMNLNEDKKAPLREKDFSIKKEMVMQYINTAS
                     KTGSLKRSRQISPQEFIHELKMGSADERLVTCLESLRVSLTSNPVSWVESFGHEGLGLL
                     LDILEKLISGKIQEKVVKKNQHKVIQCLKALMNTQYGLERIMSEERSLSLLAKAVDPRH
                     PNMMTDVVKLLSAVCIVGEESILEEVLEALTSAGEEKKIDRFFCIVEGLRHNSVQLQVA
                     CMQLINALVTSPDDLDFRLHIRNEFMRCGLKEILPNLKCIKNDGLDIQLKVFDEHKEED
                     LFELSHRLEDIRAELDEAYDVYNMVWSTVKETRAEGYFISILQHLLLIRNDYFIRQQYF
                     KLIDECVSQIVLHRDGMDPDFTYRKRLDLDLTQFVDICIDQAKLEEFEEKASELYKKFE
                     KEFTDHQETQAELQKKEAKINELQAELQAFKSQFGALPADCNIPLPPSKEGGTGHSALP
                     PPPPLPSGGGVPPPPPPPPPPPLPGMRMPFSGPVPPPPPLGFLGGQNSPPLPILPFGLK
                     PKKEFKPEISMRRLNWLKIRPHEMTENCFWIKVNENKYENVDLLCKLENTFCCQQKERR
                     EEEDIEEKKSIKKKIKELKFLDSKIAQNLSIFLSSFRVPYEEIRMMILEVDETRLAESM
                     IQNLIKHLPDQEQLNSLSQFKSEYSNLCEPEQFVVVMSNVKRLRPRLSAILFKLQFEEQ
                     VNNIKPDIMAVSTACEEIKKSKSFSKLLELVLLMGNYMNAGSRNAQTFGFNLSSLCKLK
                     DTKSADQKTTLLHFLVEICEEKYPDILNFVDDLEPLDKASKVSVETLEKNLRQMGRQLQ
                     QLEKELETFPPPEDLHDKFVTKMSRFVISAKEQYETLSKLHENMEKLYQSIIGYYAIDV
                     KKVSVEDFLTDLNNFRTTFMQAIKENIKKREAEEKEKRVRIAKELAERERLERQQKKKR
                     LLEMKTEGDETGVMDNLLEALQSGAAFRDRRKRTPMPKDVRQSLSPMSQRPVLKVCNHE
                     NQKVQLTEGSRSHYNINCNSTRTPVAKELNYNLDTHTSTGRIKAAEKKEACNVESNRKK
                     ETELLGSFSKNESVPEVEALLARLRAL"
     misc_feature    163..333
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSV4.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    238..240
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NSV4.4); phosphorylation site"
     misc_feature    268..342
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSV4.4);
                     Region: Nuclear localization signal.
                     /evidence=ECO:0000250|UniProtKB:Q9Z207"
     misc_feature    364..366
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NSV4.4); phosphorylation site"
     misc_feature    391..393
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NSV4.4); phosphorylation site"
     misc_feature    685..687
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NSV4.4); phosphorylation site"
     misc_feature    1834..2028
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSV4.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2032..2034
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9NSV4.4); phosphorylation site"
     misc_feature    3439..3441
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NSV4.4); phosphorylation site"
     misc_feature    3697..3699
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NSV4.4); phosphorylation site"
     misc_feature    3712..3741
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NSV4.4);
                     Region: Nuclear export signal.
                     /evidence=ECO:0000250|UniProtKB:Q9Z207"
     regulatory      3872..3877
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="hexamer: AATAAA"
     polyA_site      3896
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="major polyA site"
     regulatory      4566..4571
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="hexamer: AATAAA"
     polyA_site      4588
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
     polyA_site      4618
                     /gene="DIAPH3"
                     /gene_synonym="AN; AUNA1; DIA2; diap3; DRF3; mDia2; NSDAN"
                     /note="major polyA site"
ORIGIN
        1 agatgtgttg gctgcggccc cgacttcagc ggttgggcta ggctgtgctg actgtttggg
       61 tggcggaccc cgggagtaaa acctgttgtc gatccctcag cttccagctt gcggcttgct
      121 gagtggccac cttctttccg gtccccggag ctgcggggaa agatggaacg gcaccagccg
      181 cggctgcacc acccggccca aggctcagcc gctgggactc cctacccttc ctcagcctct
      241 ctccgcggct gccgggaaag caagatgccg cgcaggaagg gcccccaaca ccctccgccg
      301 cccagtggcc ccgaggagcc tggggagaag cgccccaagt ttcatttaaa tattaggaca
      361 ctgacggatg atatgctgga caaatttgcc agcataagaa ttccagggag caagaaagag
      421 agacctccac ttcccaacct gaagactgca tttgcaagca gtgattgctc agcagcacct
      481 ttagagatga tggagaactt tccaaagcca ctgtcagaga atgaactctt agaacttttt
      541 gaaaaaatga tggaagatat gaatttaaat gaagataaaa aggcaccatt gcgggaaaag
      601 gacttcagta tcaaaaaaga aatggtgatg cagtacatta atactgcttc taagacagga
      661 agtcttaaga gaagccgaca gatctcacct caggaattca ttcatgagct gaaaatgggg
      721 tctgcagatg agagacttgt cacatgcctg gagtctctcc gagtgtcttt gaccagcaat
      781 cctgtgagtt gggtggaaag ctttggacat gaagggcttg gattattatt agacattttg
      841 gaaaaactga ttagtggaaa aatccaagaa aaagttgtaa agaaaaatca acataaagtc
      901 atacagtgtc taaaagccct gatgaatacg cagtatggct tggaaagaat tatgagtgag
      961 gagaggagcc tttccttatt ggccaaagcc gtggatccca gacaccccaa tatgatgaca
     1021 gatgtggtta aacttctctc tgcggtatgc attgtagggg aagaaagcat ccttgaagaa
     1081 gttttagaag ctttaacttc agctggtgaa gaaaaaaaaa ttgacagatt tttttgtatt
     1141 gtggaaggcc tccggcacaa ttcagttcaa ctgcaagtag cttgtatgca gctcatcaat
     1201 gccctggtta catctcctga tgatttggat ttcaggcttc acatcagaaa tgaatttatg
     1261 cgttgtggat tgaaagagat attgccaaat ttaaaatgca ttaagaatga tggcctggat
     1321 atccaactta aagtctttga tgagcataaa gaagaagatt tgtttgagtt atcccatcgc
     1381 cttgaagata ttagagctga acttgatgaa gcatatgatg tttacaacat ggtgtggagc
     1441 acagttaaag aaactagagc agagggatat tttatttcta ttcttcagca tcttttgctg
     1501 attcgaaatg attattttat aaggcaacaa tacttcaaat taattgatga gtgtgtatcc
     1561 cagattgtat tgcatagaga tggaatggat ccagacttca catatcgaaa aagactagat
     1621 ttagatttaa cccagtttgt agacatttgc atagatcaag caaaactaga agagtttgaa
     1681 gagaaagcat cagaacttta caagaaattt gaaaaagagt ttaccgacca ccaagaaact
     1741 caggctgaat tgcagaaaaa agaggcaaag attaatgagc ttcaagcaga gctacaagct
     1801 tttaagtctc agtttggtgc cttgccagct gattgtaata ttcctttgcc tccctctaaa
     1861 gaaggtggaa ctggccactc agcacttcct cctccgcctc cactgccttc tggtggaggg
     1921 gtgccgcctc cacctcctcc cccaccacct cctccacttc caggaatgcg gatgccattc
     1981 agtggtcctg tgcctccacc acctcccctg ggattccttg gaggacaaaa ttctcctcct
     2041 ctaccaatcc tgccatttgg gttgaaacca aagaaagaat ttaaacctga aatcagcatg
     2101 agaagattga attggttaaa gatcagacct catgaaatga ctgaaaactg tttctggata
     2161 aaagtaaatg aaaataagta tgaaaacgtg gatttgcttt gtaaacttga gaatacattt
     2221 tgttgccaac aaaaagagag aagagaagag gaagatattg aagagaagaa atcgattaag
     2281 aaaaaaatta aagaacttaa gtttttagat tctaaaattg cccagaacct ttcaatcttc
     2341 ctgagctctt ttcgggtgcc atatgaggaa atcagaatga tgatattgga agtagatgaa
     2401 acacggttgg cagagtctat gattcagaac ttaataaagc atcttcctga tcaagagcaa
     2461 ttaaattcat tgtctcagtt caagagtgaa tatagcaact tatgtgaacc tgagcagttt
     2521 gtggttgtga tgagcaatgt gaagagacta cggccacggc tcagtgctat tctctttaag
     2581 cttcagtttg aagagcaggt gaacaacatc aaacctgaca tcatggctgt cagtactgcc
     2641 tgcgaagaga taaagaagag caaaagcttt agcaagttgc tggaacttgt attgctaatg
     2701 ggaaactaca tgaatgctgg ctcccggaat gctcaaacct tcggatttaa ccttagctct
     2761 ctctgtaaac taaaggacac aaaatcagca gatcagaaaa caacgctact tcatttcctg
     2821 gtagaaatat gtgaagagaa gtaccctgat atactgaatt ttgtggatga tttggaacct
     2881 ttagacaaag ctagtaaagt ctctgtagaa acgctggaaa agaatttgag gcagatggga
     2941 aggcagcttc aacagcttga gaaggaattg gaaacctttc cccctcctga ggacttgcat
     3001 gacaagtttg tgacaaagat gtccagattt gttatcagtg caaaagaaca atatgagaca
     3061 ctttcgaagt tacacgaaaa catggaaaag ttataccaga gtataatagg atactatgcc
     3121 attgatgtga agaaggtgtc tgtggaagac tttcttactg acctgaataa cttcagaacc
     3181 acattcatgc aagcaataaa ggagaatatc aaaaaaagag aagcagagga aaaagaaaaa
     3241 cgtgtcagaa tagctaaaga attagcagag cgagaaagac tcgaacgcca acaaaagaaa
     3301 aagcgtttat tagaaatgaa gactgagggt gatgagacag gagtgatgga taatctgctg
     3361 gaggccttgc agtccggggc tgccttccgc gacagaagaa aaaggacacc gatgccaaaa
     3421 gatgttcggc agagtctcag tccaatgtct cagaggcctg ttctgaaagt ttgtaaccat
     3481 gaaaatcaga aagtgcagtt gacagaaggg tcacgttcac actacaatat caattgcaac
     3541 tcaacaagga ctccagtcgc caaggagctt aattataatc tagacactca tacgtctact
     3601 gggaggatca aggcagctga gaagaaggaa gcgtgtaatg tagaaagcaa cagaaaaaag
     3661 gaaacggaac ttcttggctc tttttctaaa aatgaatcag ttcccgaagt tgaagccctg
     3721 ctggcaagat tacgagcttt ataagttaaa ctggttttta aaaaaaatga ttaagccaaa
     3781 tataaagcca tgctctaaac tataacactt gaaaaaattg cttttatgta agtgacttta
     3841 tatagtttta aattatgata tatattagaa aaataaagct aaatatatga ttgcaatgct
     3901 ttttctatgt actggaggtt ttggtttatt caagattgta ccgggcttta atcctttttt
     3961 tttttttttt gtctcctggt attcctcagt tctttatttg gtggttaaat tatacatatt
     4021 gctttagaga gcaggtaggt ggccatgtgt tcagcagtgt gtccttaaga aaataccatc
     4081 tttctaagcc actggaattt ttactttact atttttaaca ttaatggatg tcaggtcatc
     4141 aacctcaagt ctttacatat ccatgtatat tccatatata ttgtttatat aggcccaagt
     4201 ttctccttaa ttgggatcta tatactacca gcacaacatc aaaaacatgt aattgaatac
     4261 atcagagcta tatatgtaag gaaatgactg gtgaccccat tatcatcatt gttgaattca
     4321 tgttaagtag accctctagg ggaccataag gcaattgagc acataacgaa aaatgatgca
     4381 ataagaatgt atgcactctc tttgccaaat gcatgtgctt ttgtgtaacg tggatgtaaa
     4441 cagaattgca gtgctgccga aattcttgat cttggctaag agagtatttt tccccttgta
     4501 attatgactc tgagataaaa ttgccatttt gaaatttcca aagtaacaac tttttttatt
     4561 ttatgaataa acttgggatt gcaatttctc tgatctgaca atcaataact ttaacaaaga
     4621 tctaaataag tgtttcaagg aaagttttcc taagcaaatg taatattacc tcatttgggc
     4681 atcattactc tgttaattct atatcaaagg aaataaactt gctacttgca ctaaatgaaa
     4741 aaaaa
//
LOCUS       NM_001042519            4035 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens chromosome 2 open reading frame 88 (C2orf88),
            transcript variant 1, mRNA.
ACCESSION   NM_001042519
VERSION     NM_001042519.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4035)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 4035)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4035)
  AUTHORS   Burgers PP, Bruystens J, Burnley RJ, Nikolaev VO, Keshwani M, Wu J,
            Janssen BJ, Taylor SS, Heck AJ and Scholten A.
  TITLE     Structure of smAKAP and its regulation by PKA-mediated
            phosphorylation
  JOURNAL   FEBS J 283 (11), 2132-2148 (2016)
   PUBMED   27028580
REFERENCE   4  (bases 1 to 4035)
  AUTHORS   Kapoor M, Wang JC, Wetherill L, Le N, Bertelsen S, Hinrichs AL,
            Budde J, Agrawal A, Almasy L, Bucholz K, Dick DM, Harari O, Xiaoling
            X, Hesselbrock V, Kramer J, Nurnberger JI Jr, Rice J, Schuckit M,
            Tischfield J, Porjesz B, Edenberg HJ, Bierut L, Foroud T and Goate
            A.
  TITLE     Genome-wide survival analysis of age at onset of alcohol dependence
            in extended high-risk COGA families
  JOURNAL   Drug Alcohol Depend 142, 56-62 (2014)
   PUBMED   24962325
REFERENCE   5  (bases 1 to 4035)
  AUTHORS   Lin C, Guo X, Lange S, Liu J, Ouyang K, Yin X, Jiang L, Cai Y, Mu Y,
            Sheikh F, Ye S, Chen J, Ke Y and Cheng H.
  TITLE     Cypher/ZASP is a novel A-kinase anchoring protein
  JOURNAL   J Biol Chem 288 (41), 29403-29413 (2013)
   PUBMED   23996002
REFERENCE   6  (bases 1 to 4035)
  AUTHORS   Burgers PP, Ma Y, Margarucci L, Mackey M, van der Heyden MA,
            Ellisman M, Scholten A, Taylor SS and Heck AJ.
  TITLE     A small novel A-kinase anchoring protein (AKAP) that localizes
            specifically protein kinase A-regulatory subunit I (PKA-RI) to the
            plasma membrane
  JOURNAL   J Biol Chem 287 (52), 43789-43797 (2012)
   PUBMED   23115245
REFERENCE   7  (bases 1 to 4035)
  AUTHORS   Okada Y, Kubo M, Ohmiya H, Takahashi A, Kumasaka N, Hosono N, Maeda
            S, Wen W, Dorajoo R, Go MJ, Zheng W, Kato N, Wu JY, Lu Q, Tsunoda T,
            Yamamoto K, Nakamura Y, Kamatani N and Tanaka T.
  CONSRTM   GIANT consortium
  TITLE     Common variants at CDKAL1 and KLF9 are associated with body mass
            index in east Asian populations
  JOURNAL   Nat Genet 44 (3), 302-306 (2012)
   PUBMED   22344221
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.150128.1,
            SRR1660805.156354.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000340623.4/ ENSP00000345107.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA247977.1, BX648070.1 and AC010679.6.
            On Nov 23, 2018 this sequence version replaced NM_001042519.1.
            Transcript Variant: This variant (1) represents the longest
            transcript. All four variants encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4035
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     gene            1..4035
                     /gene="C2orf88"
                     /gene_synonym="smAKAP"
                     /note="chromosome 2 open reading frame 88"
                     /db_xref="GeneID:84281"
                     /db_xref="HGNC:HGNC:28191"
                     /db_xref="MIM:615117"
     misc_feature    370..372
                     /gene="C2orf88"
                     /gene_synonym="smAKAP"
                     /note="upstream in-frame stop codon"
     CDS             412..699
                     /gene="C2orf88"
                     /gene_synonym="smAKAP"
                     /note="small A-kinase anchoring protein; small membrane
                     AKAP"
                     /codon_start=1
                     /product="small membrane A-kinase anchor protein"
                     /protein_id="NP_001035984.1"
                     /db_xref="CCDS:CCDS42792.1"
                     /db_xref="GeneID:84281"
                     /db_xref="HGNC:HGNC:28191"
                     /db_xref="MIM:615117"
                     /translation="MGCMKSKQTFPFPTIYEGEKQHESEEPFMPEERCLPRMASPVNVK
                     EEVKEPPGTNTVILEYAHRLSQDILCDALQQWACNNIKYHDIPYIESEGP"
     misc_feature    529..531
                     /gene="C2orf88"
                     /gene_synonym="smAKAP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CPS8; propagated from
                     UniProtKB/Swiss-Prot (Q9BSF0.2); phosphorylation site"
     misc_feature    577..633
                     /gene="C2orf88"
                     /gene_synonym="smAKAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BSF0.2);
                     Region: PKA-RI-binding"
     misc_feature    685..687
                     /gene="C2orf88"
                     /gene_synonym="smAKAP"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BSF0.2); phosphorylation site"
     regulatory      743..748
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2orf88"
                     /gene_synonym="smAKAP"
                     /note="hexamer: AATAAA"
     polyA_site      765
                     /gene="C2orf88"
                     /gene_synonym="smAKAP"
                     /note="major polyA site"
     regulatory      1007..1012
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2orf88"
                     /gene_synonym="smAKAP"
                     /note="hexamer: AATAAA"
     polyA_site      1030
                     /gene="C2orf88"
                     /gene_synonym="smAKAP"
                     /note="major polyA site"
     regulatory      4013..4018
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2orf88"
                     /gene_synonym="smAKAP"
                     /note="hexamer: AATAAA"
     polyA_site      4035
                     /gene="C2orf88"
                     /gene_synonym="smAKAP"
                     /note="major polyA site"
ORIGIN
        1 acatgctgcc acttggctga gccgggcgcc ggcgagaagg cggcgccgct gccctggcag
       61 ctggactgca ctttgccccc gcccggcctc agctgccgcc cgcccagacg ccagcaagcc
      121 cccctcccac gacagggctg ctccgggagc ttcggagacc cgccccgggc ctgagcgcag
      181 gctgcctccg ggaccccacg gctgtccgga cgtgccatgg gcgcgcagct gccgggcaac
      241 gtgttgtgta aacactacac gtgaagagtg gtgaaaggga acattgatta ctgaagtgcc
      301 ctggagaggg aaagcactgg tcaacatcac atggacaaat ttcattgttt tctaaagatg
      361 gcctggaagt agtctttgcc actgcttcct ccacaaacag ctcttcataa catgggctgc
      421 atgaaatcaa agcaaacttt cccatttcct accatatatg aaggtgagaa gcagcatgag
      481 agtgaagaac cctttatgcc agaagagaga tgtctaccta ggatggcttc tccagttaat
      541 gtcaaagagg aagtgaagga acctccaggg accaatactg tgatcttgga atatgcacac
      601 cgcctgtctc aggatatctt gtgtgatgcc ttgcagcaat gggcatgcaa taacatcaag
      661 taccatgaca ttccatacat tgagagtgag gggccttgag gctgtaggat gacaacactt
      721 tgactgtgga ggtgctagtt tgaataaatg tgacaaaagc aaaaactggt gtgaaaaagt
      781 acaaataact atctggattt aaaaatgtgt ctacgataat gtcactatta taagaacaac
      841 taggatgaaa tgcattttaa gtacttctat gttaacagca atttctgttt agtcttagat
      901 tttagtcatc tgaagggctg aacagaggtc ctgtgacacc caataatcag ctgaatgtca
      961 cagcacttct tcctaagtaa tggcatcacc aaagaaaatg ctaaggaata aaaactgccc
     1021 caaattccaa tggttgaagt ttatccttta aaataacaat ttttgtttgt ttatacccaa
     1081 aaaaagtcca gatatgaaaa gggcttttct aaaatttctt ggcgagggaa tggcactcaa
     1141 atcatagtga ttaacagtaa gtcttgtttg tttgtcaagg atctctactt cttgacacaa
     1201 atgaaccctg tctttaataa gataagatat ttatttttgt agatgagaag tgtaactacc
     1261 accttggacc tcagggccct aactaattac agctgttact ggacgactca gactttgtgc
     1321 ctaaagccat cttagagata acagtttata gaagccatga cattagtgtt tattgcattg
     1381 aattaagccc agtgatataa ctatacaaga aaacaagtag gggtaccttt tacaaagagc
     1441 aatccaataa atcttaaaaa taacagaaac ttagtctgca aggtagaaag tttcagtttt
     1501 aattctgtat taagctttac tatctcagag gtacagaggg ctggaatatg ggcatttatt
     1561 tccagttttt tcttgactag taaggcggtc accattaaaa tagaccagat aatgcatgaa
     1621 gatttacagt tgtattgcaa aacggaaaag ataaaactgt cctttgagga gagtactcgt
     1681 tttctgggtt tttgttattt tttagtggta acacaagcct atagggcatt tatagccacc
     1741 tattatactg tttccataag cctggctacc ttttagggaa gctatttttt ctctttcatt
     1801 tttactgtca cagcacatac acacacacct ttttgtttta aaggattaag tactgtttga
     1861 agatcagtgg taacagaaaa tttgggaggg agaagaagaa attaagacat gacttgttag
     1921 aaaattaaga cttcagtttc tagaattatc ttttcatcaa gatttggtag acattgagtt
     1981 taaatggaaa ggaaattatt taagcctgtg tatgttagat ccacaataca ccattggtat
     2041 tgaaatataa aggttaaaaa aaaggcttat gacctcttta atgagataaa tatgtatttg
     2101 tcttgtaagc aggcagaaaa tctacctcta attttaacac taatactttg aaacccacaa
     2161 tcaaatagag tgaattctcc aagttacata agcaaggaaa acattatttg aaatatgcca
     2221 tgttttcgtt gcctttggac acctcatcat tcaactctaa ttttaccgag tcccgggatt
     2281 tgtactgtcc cattgtactt gcaatctaca atttatataa tagaaaaaca accaaaccca
     2341 ttcatacaag gatctgaagt tataaggtta agggcagaaa gtttcccata agtataaaac
     2401 atttccaggt catgaagagt agtttaggtt gagtgacaaa agcctaggtg tggttgtttt
     2461 tcattcattt tgcatctcac accaagacat ttttgctgca aggtcatctg ctgcttaaaa
     2521 tgtacaatta ggtatataaa ataagtacaa tggtgaaaac acaaagccag gtaaagcagc
     2581 atgccccact aaacttttca gtatacatag ggacagacaa gtgagttttg gttgtatcta
     2641 aatattttaa tttcaggttc cttctgtgcc ctgggccact atttcccagg ggtgtgacag
     2701 agatgcctgc cagatccata tcaactagaa gtctgatttc tgttgctgcc cttcctcagc
     2761 aactatggca gtatactttt atcaccaagc accactccct tgtccctgaa tcacatttta
     2821 atagagtaca atatcttctg tacaatattt ctgaaacact tatgtctgaa atatatgctg
     2881 tattgtatgt taacccatga catatatgaa ctacaaggct tgcataatca gtgagctagt
     2941 ggataaatca agacaggagc aaatgggaga aagatgaata aacaaatgaa aaaagatgaa
     3001 taaatgaata agagagatga ataaacaaat ttacattaca tgtgatagtt atcatggtat
     3061 ggccttcatg acaagatgga tgagaatatc actgatagga tattagcctt ctttcatatc
     3121 tttatattga aatatgggct ttacttcaat ttgaaggtct ttcatgaaca ataaaagaga
     3181 gtagaaggac tgtctgagaa ggcaggagac atataaaaca gatgactgaa agactgacta
     3241 gctcctggaa agggaaacat ttggaacatc cagagtaagg gcaaatgggc ttctaccagc
     3301 acaacaaaga gcctccaggt ggcaacatgg aagcaggtta tcagagaaaa taaatgtgca
     3361 aattccttat ttacaatgac tcacttaacc ccacaaacat gtttcactgc tgccttcccc
     3421 agttgtcgct tatgtactgt tgttaccttt cagttacatg cctttgatcc taaaattctc
     3481 tacttttgtt gccttatcag ttctttgcaa tctgcctgtg gttatcagca cttaaagcac
     3541 aattttgaag gggaaaaaaa tgataatcac cttagtccca aagaaataat ttgtcaaact
     3601 gccttattag tattaaaaac agacacactg aatgaagtag catgatacgc atatatccta
     3661 ctcagtatca ttggcctttt atcaaatggg gaaactatac ttttgtatta catagtttta
     3721 gaaatcgaaa gttagagact ctttataagt aatgtcaagg aacagtaatt taaaaacaaa
     3781 gttctaacaa atatattgtt tgcttaatca caatgccctc aacttgtatt tgaataacta
     3841 aataggacat gtcttccttg gagctgtggg cattagttca gaagcactac ctgcatctta
     3901 attttcaaaa cttaagtttt attagcaaat cctcttctct gtaagactta gctatgaagt
     3961 ggtatatttt ttccaaatat ttttctgaaa acatttgttg ttgtaactgc acaataaaag
     4021 tccagttgca attaa
//
LOCUS       NM_001042536            2893 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens INSC spindle orientation adaptor protein (INSC),
            transcript variant 2, mRNA.
ACCESSION   NM_001042536
VERSION     NM_001042536.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2893)
  AUTHORS   Wang K, Xu C, Smith A, Xiao D, Navia RO, Lu Y, Xie C and
            Piamjariyakul U.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Genome-wide association study identified INSC gene associated with
            Trail Making Test Part A and Alzheimer's disease related cognitive
            phenotypes
  JOURNAL   Prog Neuropsychopharmacol Biol Psychiatry 111, 110393 (2021)
   PUBMED   34224794
  REMARK    GeneRIF: Genome-wide association study identified INSC gene
            associated with Trail Making Test Part A and Alzheimer's disease
            related cognitive phenotypes.
REFERENCE   2  (bases 1 to 2893)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2893)
  AUTHORS   Culurgioni S, Mari S, Bonetti P, Gallini S, Bonetto G, Brennich M,
            Round A, Nicassio F and Mapelli M.
  TITLE     Insc:LGN tetramers promote asymmetric divisions of mammary stem
            cells
  JOURNAL   Nat Commun 9 (1), 1025 (2018)
   PUBMED   29523789
  REMARK    GeneRIF: In mammary stem cells, the asymmetric domain of Insc bound
            to LGN:Galphai(GDP) suffices to drive asymmetric fate, and reverts
            aberrant symmetric divisions induced by p53 loss. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 2893)
  AUTHORS   St Pourcain B, Cents RA, Whitehouse AJ, Haworth CM, Davis OS,
            O'Reilly PF, Roulstone S, Wren Y, Ang QW, Velders FP, Evans DM, Kemp
            JP, Warrington NM, Miller L, Timpson NJ, Ring SM, Verhulst FC,
            Hofman A, Rivadeneira F, Meaburn EL, Price TS, Dale PS, Pillas D,
            Yliherva A, Rodriguez A, Golding J, Jaddoe VW, Jarvelin MR, Plomin
            R, Pennell CE, Tiemeier H and Davey Smith G.
  TITLE     Common variation near ROBO2 is associated with expressive vocabulary
            in infancy
  JOURNAL   Nat Commun 5, 4831 (2014)
   PUBMED   25226531
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2893)
  AUTHORS   Tanikawa C, Okada Y, Takahashi A, Oda K, Kamatani N, Kubo M,
            Nakamura Y and Matsuda K.
  TITLE     Genome wide association study of age at menarche in the Japanese
            population
  JOURNAL   PLoS One 8 (5), e63821 (2013)
   PUBMED   23667675
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2893)
  AUTHORS   Tao S, Wang Z, Feng J, Hsu FC, Jin G, Kim ST, Zhang Z, Gronberg H,
            Zheng LS, Isaacs WB, Xu J and Sun J.
  TITLE     A genome-wide search for loci interacting with known prostate cancer
            risk-associated genetic variants
  JOURNAL   Carcinogenesis 33 (3), 598-603 (2012)
   PUBMED   22219177
REFERENCE   7  (bases 1 to 2893)
  AUTHORS   Yuzawa S, Kamakura S, Iwakiri Y, Hayase J and Sumimoto H.
  TITLE     Structural basis for interaction between the conserved cell polarity
            proteins Inscuteable and Leu-Gly-Asn repeat-enriched protein (LGN)
  JOURNAL   Proc Natl Acad Sci U S A 108 (48), 19210-19215 (2011)
   PUBMED   22074847
  REMARK    GeneRIF: mInsc-LGN interaction is vital for stabilization of LGN and
            for intracellular localization of mInsc.
REFERENCE   8  (bases 1 to 2893)
  AUTHORS   Vural A, Oner S, An N, Simon V, Ma D, Blumer JB and Lanier SM.
  TITLE     Distribution of activator of G-protein signaling 3 within the
            aggresomal pathway: role of specific residues in the
            tetratricopeptide repeat domain and differential regulation by the
            AGS3 binding partners Gi(alpha) and mammalian inscuteable
  JOURNAL   Mol Cell Biol 30 (6), 1528-1540 (2010)
   PUBMED   20065032
  REMARK    GeneRIF: These data present AGS3, G-proteins, and mInsc as candidate
            proteins involved in regulating cellular stress associated with
            protein-processing pathologies.
REFERENCE   9  (bases 1 to 2893)
  AUTHORS   Izaki T, Kamakura S, Kohjima M and Sumimoto H.
  TITLE     Two forms of human Inscuteable-related protein that links Par3 to
            the Pins homologues LGN and AGS3
  JOURNAL   Biochem Biophys Res Commun 341 (4), 1001-1006 (2006)
   PUBMED   16458856
  REMARK    GeneRIF: cloning of two distinct cDNAs from Insc gene, which is
            differentially expressed from alternative first exons;Insc proteins
            bind to the Pins homologues LGN and AGS3, and also to Par3 and
            Par3beta
REFERENCE   10  (bases 1 to 2893)
  AUTHORS   Katoh M and Katoh M.
  TITLE     Identification and characterization of human Inscuteable gene in
            silico
  JOURNAL   Int J Mol Med 11 (1), 111-116 (2003)
   PUBMED   12469229
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB236158.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379556.8/ ENSP00000368874.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC090744.5, AB236158.1, BU147420.1 and DY654442.1.
            On Jun 2, 2019 this sequence version replaced NM_001042536.2.
            Summary: In Drosophila, neuroblasts divide asymmetrically into
            another neuroblast at the apical side and a smaller ganglion mother
            cell on the basal side. Cell polarization is precisely regulated by
            2 apically localized multiprotein signaling complexes that are
            tethered by Inscuteable, which regulates their apical localization
            (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM, Mar
            2008].
            Transcript Variant: This variant (2) has an alternate exon at the
            5' end, which results in a downstream start codon, compared to
            variant 1. The resulting isoform (b) has a shorter N-terminus,
            compared to isoform a. Variants 2 and 3 encode the same isoform b.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..2893
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.2"
     gene            1..2893
                     /gene="INSC"
                     /note="INSC spindle orientation adaptor protein"
                     /db_xref="GeneID:387755"
                     /db_xref="HGNC:HGNC:33116"
                     /db_xref="MIM:610668"
     misc_feature    79..81
                     /gene="INSC"
                     /note="upstream in-frame stop codon"
     CDS             127..1725
                     /gene="INSC"
                     /note="isoform b is encoded by transcript variant 2;
                     protein inscuteable homolog; inscuteable spindle
                     orientation adaptor protein"
                     /codon_start=1
                     /product="protein inscuteable homolog isoform b"
                     /protein_id="NP_001036001.1"
                     /db_xref="CCDS:CCDS41622.1"
                     /db_xref="GeneID:387755"
                     /db_xref="HGNC:HGNC:33116"
                     /db_xref="MIM:610668"
                     /translation="MMALPGGRHLDSVTLPGQRLHLMQVDSVQRWMEDLKLMTECECMC
                     VLQAKPISLEEDAQGDLILAGGPGPGDPLQLLLKRGWVISTELRRIGQKLAQDRWARVH
                     SMSVRLTCHARSMVSEYSAVSRNSLKEMGEIEKLLMEKCSELSAVTERCLQVENEHVLK
                     SMKACVSETLSMLGQHFGQLLELALTREVQALVRKIDASDNIYTTESTTGNLFSLTQEG
                     APLCRIIAKEGGVVALFKVCRQDSFRCLYPQALRTLASICCVEEGVHQLEKVDGVLCLA
                     DILTDNSHSEATRAEAAAVVAQVTSPHLPVTQHLSSFLESMEEIVTALVKLCQEASSGE
                     VFLLASAALANITFFDTMACEMLLQLNAIRVLLEACSDKQRVDTPYTRDQIVTILANMS
                     VLEQCASDIIQENGVQLIMGMLSEKPRSGTPAEVAACERVQQKAAVTLARLSRDPDVAR
                     EAVRLSCMSRLIELCRSPSERNSSDAVLVACLAALRRLAGVCPEGLQDSDFQQLVQPRL
                     VDSFLLCSNMEESFV"
     regulatory      1852..1857
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSC"
                     /note="hexamer: AATAAA"
     polyA_site      1890
                     /gene="INSC"
                     /note="major polyA site"
     regulatory      2157..2162
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSC"
                     /note="hexamer: AATATA"
     regulatory      2187..2192
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSC"
                     /note="hexamer: AATAAA"
     polyA_site      2188
                     /gene="INSC"
                     /note="major polyA site"
     polyA_site      2211
                     /gene="INSC"
                     /note="major polyA site"
     regulatory      2226..2231
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSC"
                     /note="hexamer: ATTAAA"
     polyA_site      2246
                     /gene="INSC"
                     /note="major polyA site"
     regulatory      2870..2875
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSC"
                     /note="hexamer: AATAAA"
     polyA_site      2893
                     /gene="INSC"
ORIGIN
        1 actttgcgcg cggcctctgg agctccagct gcgccccgcc accactggcc gctcgcacta
       61 ccagcctgtc tcgcacgcta aggtcacgac cgctgcaagc aggctttgct gcagattggg
      121 atcaacatga tggcactgcc tggaggtcgc cacctggact ccgtcaccct gccgggtcag
      181 cggctacacc tgatgcaggt ggactcagtc cagcgctgga tggaagatct gaagctcatg
      241 accgagtgcg agtgcatgtg tgtcctgcag gccaagccca tcagcctgga agaggatgca
      301 cagggtgacc tcatcctggc aggtggccct ggccctggag accccctgca gctgctgctc
      361 aaacggggtt gggtcattag cacagagctg cgcaggatcg ggcagaagct ggcccaggac
      421 cgctgggcac gggtgcacag catgagcgtg cgtctgacct gccatgcccg ctccatggtc
      481 agcgagtaca gtgctgtcag caggaactcc ttgaaggaaa tgggcgagat tgagaagctg
      541 ctaatggaga aatgctcgga gctctcggca gtcacagaga ggtgccttca ggttgagaat
      601 gagcatgtcc tgaagtcaat gaaggcctgc gtgagtgaga ccctgagcat gctgggccag
      661 cactttggtc agctgctgga gctggccctg acacgggagg ttcaggcact ggtgagaaaa
      721 attgatgcct cagacaatat ctacaccaca gagtccacca cagggaacct gttcagcctg
      781 acccaggagg gggctccctt gtgccgcatc atagccaagg agggtggggt cgtagcactc
      841 ttcaaggttt gccggcagga cagtttccgg tgcttgtacc cccaggcgct ccgcacgctg
      901 gcctccatct gctgcgtgga agagggtgtc caccagctgg agaaggtgga tggcgttctg
      961 tgcttggccg acatcctgac cgacaacagc cactcagagg ccacacgggc tgaggctgcg
     1021 gctgtggtgg cccaggtcac ctccccacac ctgcccgtca cccagcacct cagtagcttc
     1081 ctggagagca tggaggagat cgtgacagcc ctcgtcaaac tgtgccaaga ggcctcatca
     1141 ggggaagtct tcctactggc ctctgcggcc cttgccaaca tcacgttctt tgacacaatg
     1201 gcctgcgaga tgctcctgca gttgaatgcc atccgtgttc tcctggaagc ctgcagtgac
     1261 aagcagagag tggacacgcc ttacactcgg gaccagattg tgaccatctt ggcaaacatg
     1321 tctgtcctag aacagtgtgc ctctgacatc attcaggaaa atggggtcca gcttatcatg
     1381 ggcatgctgt ctgaaaaacc aaggtctggg actcctgctg aagtggcagc ctgtgagcga
     1441 gtccagcaga aagctgcagt gaccctggct cgtctcagcc gagacccaga tgtggcacgg
     1501 gaggccgtgc ggctcagctg catgtcccgt ctcatcgagc tctgcagatc cccatcagag
     1561 aggaacagca gtgacgccgt gcttgtggcc tgcctggctg ctctgcgtag attggctggg
     1621 gtctgccctg aaggcctcca ggactctgac tttcagcagt tggtccagcc tcggctggtg
     1681 gactccttct tactctgcag caacatggag gagagttttg tgtagtgagt gtgggcgaag
     1741 aaatacattt ggctgttctc acaccccctc tgactatgca ccagtgaaca catctgagta
     1801 cataccagct ctcctcatct tcttatttat acttaactta tttttgtgtg aaataaatgg
     1861 aggacaaaat cttagagcaa catcatcaaa cagtctttgg tccttgagaa tcttctttgt
     1921 gttttatttt ttgatttctg tagcttttca gttgcagatg ttgaaattcg taatgacaaa
     1981 tatgacaaat tgtcatgggt gattccactt catcttattt tttctactct cactatacaa
     2041 tcttgcctca ttttttaaaa ctttggaacc agaggatttc aactgcctag caagtttttt
     2101 ttttaagttg gatttgctct tcccaaaaat ctaaaatgaa tttaataatt gggtagaata
     2161 tattggaaag aagtttcttt ttctttaata aatggaatca tataaaatgt atcccggatt
     2221 ttcttattaa attgtatttt aaactaggtt cttgcttccc aggtttcatt ccccaaaaac
     2281 ttttccaacc attaaaagta cacacagaat tgtcttgttt tcataggtgt ataaataggt
     2341 taagttctga gtgacttagt gagaaaccaa agtgactttc aaaaatacac ccaaaggcac
     2401 cagaaaccct gcttcctttg gcttctttgc ttttgtgtaa cctcctgttc acctcctggt
     2461 gaatagaatc ctcagatgag gcttattgaa tgattgattc ctcctcaaaa gtatacttga
     2521 aagcagtggt gtgctgaagc cagctcatgc ccactcacaa gggacaactg tgagaatttc
     2581 ttcctaactc tgcactcagt gaccttgcgt tggtagccat gagctacttc atgagccctc
     2641 atgttgaaat tggccatagt gggagtattt acaccacaga aattcacaga tgctataaag
     2701 cacagctttc gctttttttt tttttagaga gagctggttt accaatttca ctgcttgaaa
     2761 gtatcacaaa aatctgggga tccttttgaa aatataaatg ccatcatatt gtgatataat
     2821 ttatacaata taatataatt gtgtaaaatc atgattataa taatgtttca ataaacattt
     2881 cttaaattcc caa
//
LOCUS       NM_001042545            4961 bp    mRNA    linear   PRI 16-MAR-2023
DEFINITION  Homo sapiens latent transforming growth factor beta binding protein
            4 (LTBP4), transcript variant 3, mRNA.
ACCESSION   NM_001042545
VERSION     NM_001042545.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4961)
  AUTHORS   Liu YN, Lv X, Chen X, Yan M, Guo LC, Liu G, Yao L and Jiang HF.
  TITLE     Specific Overexpression of YAP in Vascular Smooth Muscle Attenuated
            Abdominal Aortic Aneurysm Formation by Activating Elastic Fiber
            Assembly via LTBP4
  JOURNAL   J Cardiovasc Transl Res 16 (1), 65-76 (2023)
   PUBMED   35708897
  REMARK    GeneRIF: Specific Overexpression of YAP in Vascular Smooth Muscle
            Attenuated Abdominal Aortic Aneurysm Formation by Activating Elastic
            Fiber Assembly via LTBP4.
REFERENCE   2  (bases 1 to 4961)
  AUTHORS   Ibarra-Tapia IY, Juarez-Sandoval A, Perez IT, Cano-Martinez LJ,
            Sanchez-Garcia S, Ruiz-Batalla JM, Aroche-Reyes IA, Garcia S, Canto
            P, Mejia DR and Coral-Vazquez RM.
  TITLE     Association of polymorphisms rs2303729, rs10880, and rs1131620 of
            LTBP4 with sarcopenia in elderly patients with type 2 diabetes
            mellitus
  JOURNAL   Ann Hum Biol 49 (7-8), 311-316 (2022)
   PUBMED   36524797
  REMARK    GeneRIF: Association of polymorphisms rs2303729, rs10880, and
            rs1131620 of LTBP4 with sarcopenia in elderly patients with type 2
            diabetes mellitus.
REFERENCE   3  (bases 1 to 4961)
  AUTHORS   Kosac A, Pesovic J, Radenkovic L, Brkusanin M, Radovanovic N,
            Djurisic M, Radivojevic D, Mladenovic J, Ostojic S, Kovacevic G,
            Kravljanac R, Savic Pavicevic D and Milic Rasic V.
  TITLE     LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne
            Muscular Dystrophy Analyzed in Serbian Patients
  JOURNAL   Genes (Basel) 13 (8), 1385 (2022)
   PUBMED   36011296
  REMARK    GeneRIF: LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of
            Duchenne Muscular Dystrophy Analyzed in Serbian Patients.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4961)
  AUTHORS   Liu B, Zhao S, Liu L, Du H, Zhao H, Wang S, Niu Y, Li X, Qiu G, Wu
            Z, Zhang TJ and Wu N.
  CONSRTM   Deciphering disorders Involving Scoliosis COmorbidities (DISCO)
            study group
  TITLE     Aberrant interaction between mutated ADAMTSL2 and LTBP4 is
            associated with adolescent idiopathic scoliosis
  JOURNAL   Gene 814, 146126 (2022)
   PUBMED   34958866
  REMARK    GeneRIF: Aberrant interaction between mutated ADAMTSL2 and LTBP4 is
            associated with adolescent idiopathic scoliosis.
REFERENCE   5  (bases 1 to 4961)
  AUTHORS   Oklu R and Hesketh R.
  TITLE     The latent transforming growth factor beta binding protein (LTBP)
            family
  JOURNAL   Biochem J 352 Pt 3 (Pt 3), 601-610 (2000)
   PUBMED   11104663
  REMARK    Review article
REFERENCE   6  (bases 1 to 4961)
  AUTHORS   Saharinen J and Keski-Oja J.
  TITLE     Specific sequence motif of 8-Cys repeats of TGF-beta binding
            proteins, LTBPs, creates a hydrophobic interaction surface for
            binding of small latent TGF-beta
  JOURNAL   Mol Biol Cell 11 (8), 2691-2704 (2000)
   PUBMED   10930463
REFERENCE   7  (bases 1 to 4961)
  AUTHORS   Saharinen J, Taipale J, Monni O and Keski-Oja J.
  TITLE     Identification and characterization of a new latent transforming
            growth factor-beta-binding protein, LTBP-4
  JOURNAL   J Biol Chem 273 (29), 18459-18469 (1998)
   PUBMED   9660815
REFERENCE   8  (bases 1 to 4961)
  AUTHORS   Giltay R, Kostka G and Timpl R.
  TITLE     Sequence and expression of a novel member (LTBP-4) of the family of
            latent transforming growth factor-beta binding proteins
  JOURNAL   FEBS Lett 411 (2-3), 164-168 (1997)
   PUBMED   9271198
REFERENCE   9  (bases 1 to 4961)
  AUTHORS   Callewaert,B.L. and Urban,Z.
  TITLE     LTBP4-Related Cutis Laxa
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   26866239
REFERENCE   10  (bases 1 to 4961)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301533
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.3453003.1, AF051344.2
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396819.8/ ENSP00000380031.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010412.9, AF051344.2,
            Y13622.1, AK128191.1 and BQ001109.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001042545.1.
            Summary: The protein encoded by this gene binds transforming growth
            factor beta (TGFB) as it is secreted and targeted to the
            extracellular matrix. TGFB is biologically latent after secretion
            and insertion into the extracellular matrix, and sheds TGFB and
            other proteins upon activation. Defects in this gene may be a cause
            of cutis laxa and severe pulmonary, gastrointestinal, and urinary
            abnormalities. Three transcript variants encoding different
            isoforms have been found for this gene.[provided by RefSeq, May
            2010].
            Transcript Variant: This variant (3) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (c)
            has a shorter and distinct N-terminus compared to isoform a.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4961
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..4961
                     /gene="LTBP4"
                     /gene_synonym="ARCL1C; LTBP-4; LTBP4L; LTBP4S"
                     /note="latent transforming growth factor beta binding
                     protein 4"
                     /db_xref="GeneID:8425"
                     /db_xref="HGNC:HGNC:6717"
                     /db_xref="MIM:604710"
     CDS             20..4693
                     /gene="LTBP4"
                     /gene_synonym="ARCL1C; LTBP-4; LTBP4L; LTBP4S"
                     /note="isoform c precursor is encoded by transcript variant
                     3; latent transforming growth factor-beta binding protein
                     4L"
                     /codon_start=1
                     /product="latent-transforming growth factor beta-binding
                     protein 4 isoform c precursor"
                     /protein_id="NP_001036010.1"
                     /db_xref="CCDS:CCDS74370.1"
                     /db_xref="GeneID:8425"
                     /db_xref="HGNC:HGNC:6717"
                     /db_xref="MIM:604710"
                     /translation="MAGGVRLLWVSLLVLLAQLGPQPGLGRLGERLRVRFTPVVCGLRC
                     VHGPTGSRCTPTCAPRNATSVDSGAPGGAAPGGPGFRAFLCPLICHNGGVCVKPDRCLC
                     PPDFAGKFCQLHSSGARPPAPAVPGLTRSVYTMPLANHRDDEHGVASMVSVHVEHPQEA
                     SVVVHQVERVSGPWEEADAEAVARAEAAARAEAAAPYTVLAQSAPREDGYSDASGFGYC
                     FRELRGGECASPLPGLRTQEVCCRGAGLAWGVHDCQLCSERLGNSERVSAPDGPCPTGF
                     ERVNGSCEDVDECATGGRCQHGECANTRGGYTCVCPDGFLLDSSRSSCISQHVISEAKG
                     PCFRVLRDGGCSLPILRNITKQICCCSRVGKAWGRGCQLCPPFGSEGFREICPAGPGYH
                     YSASDLRYNTRPLGQEPPRVSLSQPRTLPATSRPSAGFLPTHRLEPRPEPRPDPRPGPE
                     LPLPSIPAWTGPEIPESGPSSGMCQRNPQVCGPGRCISRPSGYTCACDSGFRLSPQGTR
                     CIDVDECRRVPPPCAPGRCENSPGSFRCVCGPGFRAGPRAAECLDVDECHRVPPPCDLG
                     RCENTPGSFLCVCPAGYQAAPHGASCQDVDECTQSPGLCGRGACKNLPGSFRCVCPAGF
                     RGSACEEDVDECAQEPPPCGPGRCDNTAGSFHCACPAGFRSRGPGAPCQDVDECARSPP
                     PCTYGRCENTEGSFQCVCPMGFQPNTAGSECEDVDECENHLACPGQECVNSPGSFQCRT
                     CPSGHHLHRGRCTDVDECSSGAPPCGPHGHCTNTEGSFRCSCAPGYRAPSGRPGPCADV
                     NECLEGDFCFPHGECLNTDGSFACTCAPGYRPGPRGASCLDVDECSEEDLCQSGICTNT
                     DGSFECICPPGHRAGPDLASCLDVDECRERGPALCGSQRCENSPGSYRCVRDCDPGYHA
                     GPEGTCDDVDECQEYGPEICGAQRCENTPGSYRCTPACDPGYQPTPGGGCQDVDECRNR
                     SFCGAHAVCQNLPGSFQCLCDQGYEGARDGRHCVDVNECETLQGVCGAALCENVEGSFL
                     CVCPNSPEEFDPMTGRCVPPRTSAGTFPGSQPQAPASPVLPARPPPPPLPRRPSTPRQG
                     PVGSGRRECYFDTAAPDACDNILARNVTWQECCCTVGEGWGSGCRIQQCPGTETAEYQS
                     LCPHGRGYLAPSGDLSLRRDVDECQLFRDQVCKSGVCVNTAPGYSCYCSNGYYYHTQRL
                     ECIDNDECADEEPACEGGRCVNTVGSYHCTCEPPLVLDGSQRRCVSNESQSLDDNLGVC
                     WQEVGADLVCSHPRLDRQATYTECCCLYGEAWGMDCALCPAQDSDDFEALCNVLRPPAY
                     SPPRPGGFGLPYEYGPDLGPPYQGLPYGPELYPPPALPYDPYPPPPGPFARREAPYGAP
                     RFDMPDFEDDGGPYGESEAPAPPGPGTRWPYRSRDTRRSFPEPEEPPEGGSYAGSLAEP
                     YEELEAEECGILDGCTNGRCVRVPEGFTCRCFDGYRLDMTRMACVDINECDEAEAASPL
                     CVNARCLNTDGSFRCICRPGFAPTHQPHHCAPARPRA"
     sig_peptide     20..97
                     /gene="LTBP4"
                     /gene_synonym="ARCL1C; LTBP-4; LTBP4L; LTBP4S"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      4940..4945
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LTBP4"
                     /gene_synonym="ARCL1C; LTBP-4; LTBP4L; LTBP4S"
                     /note="hexamer: ATTAAA"
     polyA_site      4961
                     /gene="LTBP4"
                     /gene_synonym="ARCL1C; LTBP-4; LTBP4L; LTBP4S"
                     /note="major polyA site"
ORIGIN
        1 ggagcgcggc gctgcagcca tggcgggcgg cgtgcggctg ctctgggtgt cgctattggt
       61 gctgctggcg cagctagggc cgcagcctgg actgggccgg ctcggagagc gtctccgcgt
      121 gcgcttcacc ccggtcgtgt gcggcctgcg ctgcgtccat gggccgaccg gctcccgctg
      181 taccccgacc tgcgcgcccc gcaacgccac cagcgtggac agcggcgctc ccggcggggc
      241 ggccccgggg ggacccggct tccgcgcctt cctgtgtccc ttgatctgtc acaatggcgg
      301 tgtgtgcgtg aagcctgacc gctgcctctg tcccccggac ttcgctggca agttctgcca
      361 gttgcactcc tcgggcgccc ggcccccggc cccggctgta ccaggcctca cccgctccgt
      421 gtacactatg ccactggcca accaccgcga cgacgagcac ggcgtggcat ctatggtgag
      481 cgtccacgtg gagcacccgc aggaggcgtc ggtggtggtg caccaggtgg agcgtgtgtc
      541 tggcccttgg gaggaggcgg acgctgaggc ggtggcgcgg gcggaagcgg cggcgcgggc
      601 ggaggcggca gcgccctaca cggtgttggc acagagcgcg ccgcgggagg acggctactc
      661 agatgcctcg ggcttcggtt actgctttcg ggagctgcgc ggaggcgaat gcgcgtcccc
      721 gctgcccggg ctccggacgc aggaggtctg ctgccgaggg gccggcttgg cctggggcgt
      781 tcacgactgt cagctgtgct ccgagcgcct ggggaactcc gaaagagtga gcgccccaga
      841 tggaccttgt ccaaccggct ttgaaagagt taatgggtcc tgcgaagatg tggatgagtg
      901 cgcgactggc gggcgctgcc agcacggcga gtgtgcaaac acgcgcggcg ggtacacgtg
      961 tgtgtgcccc gacggctttc tgctcgactc gtcccgcagc agctgcatct cccaacacgt
     1021 gatctcagag gccaaagggc cctgcttccg cgtgctccgc gacggcggct gttcgctgcc
     1081 cattctgcgg aacatcacta aacagatctg ctgctgcagc cgcgtaggca aggcctgggg
     1141 ccggggctgc cagctctgcc cacccttcgg ctcagagggt ttccgggaga tctgcccggc
     1201 tggtcctggt taccactact cggcctccga cctccgctac aacaccagac ccctgggcca
     1261 ggagccaccc cgagtgtcac tcagccagcc tcgtaccctg ccagccacct ctcggccatc
     1321 tgcaggcttt ctgcccaccc atcgcctgga gccccggcct gaaccccggc ccgatccccg
     1381 gcccggccct gagcttccct tgcccagcat ccctgcctgg actggtcctg agattcctga
     1441 atcaggtccc tcctccggca tgtgtcagcg caacccccag gtctgcggcc caggacgctg
     1501 catttcccgg cccagcggct acacctgcgc ttgcgactct ggcttccggc tcagccccca
     1561 gggcacccga tgcattgatg tggacgaatg tcgccgcgtg cccccgccct gtgctcccgg
     1621 gcgctgcgag aactcaccag gcagcttccg ctgcgtgtgc ggcccgggct tccgagccgg
     1681 cccacgggct gcggaatgcc tggatgtgga cgagtgccac cgcgtgccgc cgccgtgtga
     1741 cctcgggcgc tgcgagaaca cgccaggcag cttcctgtgc gtgtgccccg ccgggtacca
     1801 ggctgcaccg cacggagcca gctgccagga tgtggatgaa tgcacccaga gcccaggcct
     1861 gtgtggccga ggggcctgca agaacctgcc tggctctttc cgctgtgttt gcccggctgg
     1921 cttccggggc tcggcgtgtg aagaggatgt ggatgagtgt gcccaggagc cgccgccctg
     1981 tgggcccggc cgctgtgaca acacggcagg ctcctttcac tgtgcctgcc ctgctggctt
     2041 ccgctcccga gggcccgggg ccccctgcca agatgtggat gagtgtgccc gaagcccccc
     2101 accctgcacc tacggccggt gtgagaacac agaaggcagc ttccagtgtg tctgccccat
     2161 gggcttccaa cccaacactg ctggctccga gtgcgaggat gtggatgagt gtgagaacca
     2221 cctcgcatgc cctgggcagg agtgtgtgaa ctcgcccggc tccttccagt gcaggacctg
     2281 tccttctggc caccacctgc accgtggcag atgcactgat gtggacgaat gcagttcggg
     2341 tgcccctccc tgtggtcccc acggccactg cactaacacc gaaggctcct tccgctgcag
     2401 ctgcgcgcca ggctaccggg cgccgtcggg tcggcccggg ccctgcgcag acgtgaacga
     2461 gtgcctggag ggcgatttct gcttccctca cggcgagtgc ctcaacactg acggctcctt
     2521 tgcctgtact tgtgcccctg gctaccgacc cggaccccgc ggagcctctt gcctcgacgt
     2581 tgacgagtgc agcgaggagg acctttgcca gagcggcatc tgtaccaaca ccgacggctc
     2641 cttcgagtgc atctgtcctc cgggacaccg cgctggcccg gacctcgcct cctgcctcga
     2701 cgtggacgaa tgtcgcgagc gaggcccagc cctgtgcggg tcgcagcgct gtgagaactc
     2761 tcccggctcc taccgctgtg tccgggactg cgatcctggg taccacgcgg gccccgaggg
     2821 cacctgtgac gatgtggatg agtgccaaga atatggtccc gagatttgtg gagcccagcg
     2881 ttgtgagaac acccctggct cctaccgctg cacaccagcc tgtgaccctg gctatcagcc
     2941 cacgccaggg ggcggatgcc aggatgtgga cgaatgccgg aaccggtcct tctgcggtgc
     3001 ccacgccgtg tgccagaacc tgcccggctc cttccagtgc ctctgtgacc agggttacga
     3061 gggggcacgg gatgggcgtc actgcgtgga tgtgaacgag tgtgaaacac tacagggtgt
     3121 atgtggagct gccctgtgtg aaaatgtcga aggctccttc ctctgtgtct gccccaacag
     3181 cccggaagag tttgacccca tgactggacg ctgtgttccc ccacgaactt ctgctggcac
     3241 gttcccaggc tcgcagcccc aggcacctgc tagccccgtt ctgcccgcca ggccacctcc
     3301 gccacccctg ccccgccgac ccagcacacc taggcagggc cctgtgggga gtgggcgccg
     3361 ggagtgctac tttgacacag cggccccgga tgcatgtgac aacatcctgg ctcggaatgt
     3421 gacatggcag gagtgctgct gtactgtggg tgagggctgg ggcagcggct gccgcatcca
     3481 gcagtgcccg ggcaccgaga cagctgagta ccagtcattg tgccctcacg gccggggcta
     3541 cctggcgccc agtggagacc tgagcctccg gagagacgtg gacgaatgtc agctcttccg
     3601 agaccaggtg tgcaagagtg gcgtgtgtgt gaacacggcc ccgggctact catgctattg
     3661 cagcaacggc tactactacc acacacagcg gctggagtgc atcgacaatg acgagtgcgc
     3721 cgatgaggaa ccggcctgtg agggcggccg ctgtgtcaac actgtgggct cttatcactg
     3781 tacctgcgag cccccactgg tgctggatgg ctcgcagcgc cgctgcgtct ccaacgagag
     3841 ccagagcctc gatgacaatc tgggagtgtg ctggcaggaa gtgggggctg acctcgtgtg
     3901 cagccaccct cggctggacc gtcaggccac ctacacagag tgctgctgcc tgtatggaga
     3961 ggcctggggc atggactgcg ccctctgccc tgcgcaggac tcagatgact tcgaggccct
     4021 gtgcaatgtg ctacgccccc ccgcatatag ccccccgcga ccaggtggct ttggactccc
     4081 ctacgagtac ggcccagact taggtccacc ttaccagggc ctcccatatg ggcctgagtt
     4141 gtacccacca cctgcgctac cctacgaccc ctacccaccg ccacctgggc ccttcgcccg
     4201 ccgggaggct ccttatgggg caccccgctt cgacatgcca gactttgagg acgatggtgg
     4261 cccctatggc gaatctgagg ctcctgcgcc acctggcccg ggcacccgct ggccctatcg
     4321 gtcccgggac acccgccgct ccttcccaga gcccgaggag cctcctgaag gtggaagcta
     4381 tgctggttcc ctggctgagc cctacgagga gctggaggcg gaggagtgcg ggatcctgga
     4441 cggctgcacc aacggccgct gcgtgcgcgt ccccgaaggc ttcacctgcc gttgcttcga
     4501 cggctaccgc ctggacatga cccgcatggc ctgcgttgac atcaacgagt gtgatgaggc
     4561 cgaggctgcc tccccgctgt gcgtcaacgc gcgttgcctc aacacggatg gctccttccg
     4621 ctgcatctgc cgcccgggat tcgcacccac gcaccagccg caccactgtg cgcccgcacg
     4681 gccccgggcc tgagccctgg cacccgctgg ccgcccaccc gcgcccgcca ctcggggccc
     4741 ctgccgcgca tcctgcagcc cgcttatgcg tatgtgcacg gggccgcccg cctggacctg
     4801 gagaagggac ctacggacgc ctggaagctg cgacgccctg cactgctccc gcctccacca
     4861 gcgcctccca ctgatgtcgt ggtcccgggc ctggcccagg ggccccttta catgccctct
     4921 cccttttata aaattttcca ttaaaaacca cctattttct a
//
LOCUS       NM_001042552            2527 bp    mRNA    linear   PRI 17-APR-2023
DEFINITION  Homo sapiens TatD DNase domain containing 3 (TATDN3), transcript
            variant 1, mRNA.
ACCESSION   NM_001042552
VERSION     NM_001042552.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2527)
  AUTHORS   Dorival J and Eichman BF.
  TITLE     Human and bacterial TatD enzymes exhibit apurinic/apyrimidinic (AP)
            endonuclease activity
  JOURNAL   Nucleic Acids Res 51 (6), 2838-2849 (2023)
   PUBMED   36881763
  REMARK    GeneRIF: Human and bacterial TatD enzymes exhibit
            apurinic/apyrimidinic (AP) endonuclease activity.
REFERENCE   2  (bases 1 to 2527)
  AUTHORS   Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E,
            Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer
            JL and O'Brien SJ.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator) Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2527)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   4  (bases 1 to 2527)
  AUTHORS   Kutsenko AS, Gizatullin RZ, Al-Amin AN, Wang F, Kvasha SM, Podowski
            RM, Matushkin YG, Gyanchandani A, Muravenko OV, Levitsky VG,
            Kolchanov NA, Protopopov AI, Kashuba VI, Kisselev LL, Wasserman W,
            Wahlestedt C and Zabarovsky ER.
  TITLE     NotI flanking sequences: a tool for gene discovery and verification
            of the human genome
  JOURNAL   Nucleic Acids Res 30 (14), 3163-3170 (2002)
   PUBMED   12136098
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.49027.1,
            SRR3476690.409040.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000366974.9/ ENSP00000355941.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC113638.1, AC104333.2 and DB351940.1.
            On Nov 23, 2018 this sequence version replaced NM_001042552.2.
            Transcript Variant: This variant (1) encodes isoform 1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2527
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.3"
     gene            1..2527
                     /gene="TATDN3"
                     /note="TatD DNase domain containing 3"
                     /db_xref="GeneID:128387"
                     /db_xref="HGNC:HGNC:27010"
     misc_feature    5..7
                     /gene="TATDN3"
                     /note="upstream in-frame stop codon"
     CDS             29..853
                     /gene="TATDN3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     putative deoxyribonuclease TATDN3"
                     /codon_start=1
                     /product="putative deoxyribonuclease TATDN3 isoform 1"
                     /protein_id="NP_001036017.1"
                     /db_xref="CCDS:CCDS31019.1"
                     /db_xref="GeneID:128387"
                     /db_xref="HGNC:HGNC:27010"
                     /translation="MRAAGVGLVDCHCHLSAPDFDRDLDDVLEKAKKANVVALVAVAEH
                     SGEFEKIMQLSERYNGFVLPCLGVHPVQGLPPEDQRSVTLKDLDVALPIIENYKDRLLA
                     IGEVGLDFSPRFAGTGEQKEEQRQVLIRQIQLAKRLNLPVNVHSRSAGRPTINLLQEQG
                     AEKVLLHAFDGRPSVAMEGVRAGYFFSIPPSIIRSGQKQKLVKQLPLTSICLETDSPAL
                     GPEKQVRNEPWNISISAEYIAQVKGISVEEVIEVTTQNALKLFPKLRHLLQK"
     regulatory      999..1004
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TATDN3"
                     /note="hexamer: AATAAA"
     polyA_site      1024
                     /gene="TATDN3"
                     /note="major polyA site"
     regulatory      2300..2305
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TATDN3"
                     /note="hexamer: AATAAA"
     polyA_site      2319
                     /gene="TATDN3"
                     /note="major polyA site"
     regulatory      2342..2347
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TATDN3"
                     /note="hexamer: AATAAA"
     polyA_site      2361
                     /gene="TATDN3"
     regulatory      2497..2502
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TATDN3"
                     /note="hexamer: ATTAAA"
     polyA_site      2527
                     /gene="TATDN3"
ORIGIN
        1 ggtctaaagc ggcagccgcc ggggcgcaat gcgagcggct ggcgtaggct tggtggactg
       61 tcactgccac ctctccgccc cggactttga ccgcgatttg gatgatgtgt tggagaaagc
      121 caagaaggcc aatgttgtgg cccttgtggc agttgccgaa cattcaggag aatttgaaaa
      181 gattatgcaa ctttcagaaa ggtataatgg gtttgtcctg ccatgcttgg gtgttcatcc
      241 agttcaagga cttccaccag aagaccaaag aagtgtcaca ctaaaggatt tggatgtagc
      301 tttgcccatt attgagaatt ataaggatcg gttgttggca attggagagg ttggactaga
      361 tttctccccc agatttgctg gcactggtga acagaaggaa gagcaaagac aagtcctaat
      421 cagacagatc cagttagcca aaagactaaa tttgcctgta aatgtgcact cacgctctgc
      481 tggaagacct accatcaacc ttttacaaga gcaaggtgct gagaaggtac tgctgcatgc
      541 atttgatggt cggccatctg tagccatgga aggagtaaga gctgggtact tcttctcaat
      601 tcccccttct atcataagaa gtggacagaa gcagaaactt gtgaaacaat tgcctttaac
      661 ttctatatgc ttagaaacag attcacctgc actaggacca gaaaaacagg tacggaatga
      721 gccctggaac atttctattt cagcagaata tattgcccag gtgaaaggga tctcagtgga
      781 agaagttata gaagtgacga cacagaatgc attaaaactg tttcctaagc tccgacactt
      841 gctccagaaa tagcttcaaa accatccatt acaaaatcga atcaactgca gggggcagca
      901 tttgaaaaat agaaatgttc tgatgaagaa tctgaactga agaagctgtt ttatagggtt
      961 atagaagatt gtaattgtag agaaatattt ctcttagaaa taaaactggg cttggatcct
     1021 gaaaccctgg gttctgattc tagccttgtg ctgcttttca attagccgag ttctggcagg
     1081 atattgggaa aatactgcta cttcttacat tgccctttta tatagaacca ccacctgaac
     1141 tgaaaccatt gctactggga agggtggctc ccacaggaag agtataagca ctactgtgat
     1201 gaggatggag taagctaaag tatacttttt tttttttttg atggagtttc gctgttgttg
     1261 cccaggctgg agtgcaatgg cacgatcttg gctcactgca acctccactt cccaggttct
     1321 agcgagtctc ctccctcagc ctcccaagta gctgggatta caggcatgtg ccaccatgcc
     1381 cagctaattt tgtattttta gtagagacag ggtttctcca tgttggtcag gctggtctcg
     1441 aactcccgac ctcaggtgat ccgcccgcct cggcctccca aagtgctggg attacaggca
     1501 tgagccactg cgccagccta aagtgtgttc ttaccaccta tttttcttcc cataggagtt
     1561 agccagtgaa gggagaatgt ctggttttct atgctgtcag aaatctcttt tctaggtttg
     1621 taaaattgaa cttttagtac ttcgaattat ttctctttaa gataaaaatg catacgattt
     1681 ttacactgat cttagatttt tgacttatga ggccagtggt ttaaacaatc attattgaat
     1741 accaagccca aaagtttagt taatacacca attgtaagtt ctggtctgaa ttttgtcaac
     1801 atatttagaa tgtaaatggc attattaaaa atgtatctga tttctctgtg aacagtaata
     1861 tttcatattt ttaagtttaa aaatgttagt gtaagccagg cacagtggca ttcacctgta
     1921 gtgccaacca ctcaggaggc tgagatggga gaccttttaa gcctgagttt gagtcaggcc
     1981 tgggcaacat agatgtgagc acctatctct aaaaatgtaa ataaataaaa atctcaaaaa
     2041 aattaaaaat ctcaagtgta aaaacagttc tgtagataga tggtagtgat ggtagcacat
     2101 caatgtgaag gtatttaatg ccactgaact gtacacttat aacgaattag gataaatttt
     2161 atgttatgtg tatttactac aattttttaa aaatcgtata tgtagtttaa caggtgtggt
     2221 caatatcaaa acttaggtat ttaatcttgt taaattatat aagcagaaaa tgctggaaaa
     2281 agtacctgtc atagaaaaaa ataaacttcc taaatcaaag tgattttatg aaatgatctt
     2341 caataaatat tttgaaatga attcatttat ggaagaatca aaactaggtc agattgtcca
     2401 aaccagacta agaaactgaa tagggtattt tatgaggtat ttaatgactc atcagcacca
     2461 ttttaaatga aattcctaca tttaacagga gattatatta aaactggact tttaagctct
     2521 cttccaa
//
LOCUS       NM_001042573            4603 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), transcript
            variant 4, mRNA.
ACCESSION   NM_001042573
VERSION     NM_001042573.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4603)
  AUTHORS   Strack C, Bauer S, Hubauer U, Ucer E, Birner C, Luchner A, Maier L
            and Jungbauer C.
  TITLE     N-acetyl-ss-D-glucosaminidase is predictive of mortality in chronic
            heart failure: a 10-year follow-up
  JOURNAL   Biomark Med 15 (13), 1143-1153 (2021)
   PUBMED   34397265
  REMARK    GeneRIF: N-acetyl-ss-D-glucosaminidase is predictive of mortality in
            chronic heart failure: a 10-year follow-up.
REFERENCE   2  (bases 1 to 4603)
  AUTHORS   Bhat A, Irizar H, Thygesen JH, Kuchenbaecker K, Pain O, Adams RA,
            Zartaloudi E, Harju-Seppanen J, Austin-Zimmerman I, Wang B, Muir R,
            Summerfelt A, Du XM, Bruce H, O'Donnell P, Srivastava DP, Friston K,
            Hong LE, Hall MH and Bramon E.
  TITLE     Transcriptome-wide association study reveals two genes that
            influence mismatch negativity
  JOURNAL   Cell Rep 34 (11), 108868 (2021)
   PUBMED   33730571
  REMARK    GeneRIF: Transcriptome-wide association study reveals two genes that
            influence mismatch negativity.
REFERENCE   3  (bases 1 to 4603)
  AUTHORS   Fairbanks AJ.
  TITLE     The ENGases: versatile biocatalysts for the production of
            homogeneous N-linked glycopeptides and glycoproteins
  JOURNAL   Chem Soc Rev 46 (16), 5128-5146 (2017)
   PUBMED   28681051
  REMARK    Review article
REFERENCE   4  (bases 1 to 4603)
  AUTHORS   Bi Y, Might M, Vankayalapati H and Kuberan B.
  TITLE     Repurposing of Proton Pump Inhibitors as first identified small
            molecule inhibitors of endo-beta-N-acetylglucosaminidase (ENGase)
            for the treatment of NGLY1 deficiency, a rare genetic disease
  JOURNAL   Bioorg Med Chem Lett 27 (13), 2962-2966 (2017)
   PUBMED   28512024
REFERENCE   5  (bases 1 to 4603)
  AUTHORS   Xiao F, Zheng X, Cui M, Shi G, Chen X, Li R, Song Z, Rudolph KL,
            Chen B and Ju Z.
  TITLE     Telomere dysfunction-related serological markers are associated with
            type 2 diabetes
  JOURNAL   Diabetes Care 34 (10), 2273-2278 (2011)
   PUBMED   21873561
  REMARK    GeneRIF: Serological N-acetyl-glucosaminidase, telomere length, and
            the UCP2-886G>A variant are independent risk factors for type 2
            diabetes.
REFERENCE   6  (bases 1 to 4603)
  AUTHORS   Wang LX.
  TITLE     The Amazing Transglycosylation Activity of
            Endo-beta-N-acetylglucosaminidases
  JOURNAL   Trends Glycosci Glycotechnol 23 (129), 33-52 (2011)
   PUBMED   25309039
REFERENCE   7  (bases 1 to 4603)
  AUTHORS   Butkinaree C, Cheung WD, Park S, Park K, Barber M and Hart GW.
  TITLE     Characterization of beta-N-acetylglucosaminidase cleavage by
            caspase-3 during apoptosis
  JOURNAL   J Biol Chem 283 (35), 23557-23566 (2008)
   PUBMED   18586680
  REMARK    GeneRIF: identification of O-GlcNAcase as a caspase-3 substrate with
            a novel caspase-3 cleavage site and provide insight about
            O-GlcNAcase regulation during apoptosis.
REFERENCE   8  (bases 1 to 4603)
  AUTHORS   Ortutay Z, Polgar A, Gomor B, Geher P, Lakatos T, Glant TT, Gay RE,
            Gay S, Pallinger E, Farkas C, Farkas E, Tothfalusi L, Kocsis K,
            Falus A and Buzas EI.
  TITLE     Synovial fluid exoglycosidases are predictors of rheumatoid
            arthritis and are effective in cartilage glycosaminoglycan depletion
  JOURNAL   Arthritis Rheum 48 (8), 2163-2172 (2003)
   PUBMED   12905469
  REMARK    GeneRIF: endo-beta-n-acetylglucosaminidase present in the synovial
            fluid of rheumatoid arthritis patients, may contribute to the
            depletion of glycosaminoglycans from cartilage allowing the invasion
            of synovial cells
REFERENCE   9  (bases 1 to 4603)
  AUTHORS   Suzuki T, Yano K, Sugimoto S, Kitajima K, Lennarz WJ, Inoue S, Inoue
            Y and Emori Y.
  TITLE     Endo-beta-N-acetylglucosaminidase, an enzyme involved in processing
            of free oligosaccharides in the cytosol
  JOURNAL   Proc Natl Acad Sci U S A 99 (15), 9691-9696 (2002)
   PUBMED   12114544
  REMARK    GeneRIF: involved in processing of free oligosaccharides in the
            cytosol; identification of the gene encoding human cytosolic ENGase
REFERENCE   10  (bases 1 to 4603)
  AUTHORS   Miller DJ, Gong X and Shur BD.
  TITLE     Sperm require beta-N-acetylglucosaminidase to penetrate through the
            egg zona pellucida
  JOURNAL   Development 118 (4), 1279-1289 (1993)
   PUBMED   8269854
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.4062711.1,
            SRR14038192.2687129.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000579016.6/ ENSP00000462333.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY070811.1, AK025518.1, AF512564.1 and AC073624.28.
            On Oct 4, 2019 this sequence version replaced NM_001042573.2.
            Summary: This gene encodes a cytosolic enzyme which catalyzes the
            hydrolysis of peptides and proteins with mannose modifications to
            produce free oligosaccharides. [provided by RefSeq, Feb 2012].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4603
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..4603
                     /gene="ENGASE"
                     /note="endo-beta-N-acetylglucosaminidase"
                     /db_xref="GeneID:64772"
                     /db_xref="HGNC:HGNC:24622"
                     /db_xref="MIM:611898"
     CDS             122..2353
                     /gene="ENGASE"
                     /EC_number="3.2.1.96"
                     /note="isoform 4 is encoded by transcript variant 4;
                     Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase;
                     Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase;
                     cytosolic endo-beta-N-acetylglucosaminidase"
                     /codon_start=1
                     /product="cytosolic endo-beta-N-acetylglucosaminidase
                     isoform 4"
                     /protein_id="NP_001036038.1"
                     /db_xref="CCDS:CCDS42394.1"
                     /db_xref="GeneID:64772"
                     /db_xref="HGNC:HGNC:24622"
                     /db_xref="MIM:611898"
                     /translation="MEAAAVTVTRSATRRRRRQLQGLAAPEAGTQEEQEDQEPRPRRRR
                     PGRSIKDEEEETVFREVVSFSPDPLPVRYYDKDTTKPISFYLSSLEELLAWKPRLEDGF
                     NVALEPLACRQPPLSSQRPRTLLCHDMMGGYLDDRFIQGSVVQTPYAFYHWQCIDVFVY
                     FSHHTVTIPPVGWTNTAHRHGVCVLGTFITEWNEGGRLCEAFLAGDERSYQAVADRLVQ
                     ITQFFRFDGWLINIENSLSLAAVGNMPPFLRYLTTQLHRQVPGGLVLWYDSVVQSGQLK
                     WQDELNQHNRVFFDSCDGFFTNYNWREEHLERMLGQAGERRADVYVGVDVFARGNVVGG
                     RFDTDKSLELIRKHGFSVALFAPGWVYECLEKKDFFQNQDKFWGRLERYLPTHSICSLP
                     FVTSFCLGMGARRVCYGQEEAVGPWYHLSAQEIQPLFGEHRLGGDGRGWVRTHCCLEDA
                     WHGGSSLLVRGVIPPEVGNVAVRLFSLQAPVPPKIYLSMVYKLEGPTDVTVALELTTGD
                     AGSCHIGGISVLNAETSSRHSLRPLRVPPTKLARWVGRCGRQLSGGWVQHCYEVSLRGC
                     LLLDLLVCFSRPPGSREEESFTCRLGEIQVVDAASLLAPLPQVQAVTISHIRWQPSASE
                     REGPPALLQLSCTLHWSFLLSQVRCFRIHCWGGMSDDSPGRELPRPEMPMFLGLAFATQ
                     YRIVDLLVEAAGPGQDRRMEFLVEPVPKEGFRVPQAEWGRAVLLYSAPA"
     misc_feature    122..286
                     /gene="ENGASE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NFI3.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    122..124
                     /gene="ENGASE"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8NFI3.1); acetylation site"
     misc_feature    317..319
                     /gene="ENGASE"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q8NFI3.1);
                     phosphorylation site"
     regulatory      2672..2677
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENGASE"
                     /note="hexamer: CATAAA"
     polyA_site      2700
                     /gene="ENGASE"
     regulatory      4581..4586
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENGASE"
                     /note="hexamer: AATAAA"
     polyA_site      4603
                     /gene="ENGASE"
                     /note="major polyA site"
ORIGIN
        1 gggagtcagc tcggagtccc gtcccagcgc ggcgtcagcg ctgcgcactt cccattggcc
       61 gagcgcggcg cgggggcggg cccgggcctg cgattgcctc tcggcgtgcg cggacagtgt
      121 catggaggcc gcggcggtga cggtcacccg gtcggctaca cggcggcggc ggcggcagct
      181 gcaggggctg gcggccccgg aggcggggac gcaggaggag caggaggatc aggagccgcg
      241 gccgcggcgg cggcggccgg gaaggagcat caaagatgaa gaagaagaga cagtctttcg
      301 agaggtggtc agtttttccc cggaccccct gccagttaga tattatgaca aggacaccac
      361 caaaccaatc agcttttact tgtcttcgct ggaggagctc ttggcgtgga agccccgctt
      421 ggaggatggc tttaatgtgg ccctggagcc cctggcgtgt cgccagcccc ctctgagcag
      481 ccagaggccc cggactttgt tgtgtcatga catgatgggc gggtacctgg atgacaggtt
      541 cattcagggc tcggtggtgc agactcccta tgctttctac cactggcagt gcatcgacgt
      601 ctttgtgtac ttcagccacc acaccgtcac cattccccca gtgggctgga ccaacactgc
      661 ccacaggcat ggggtctgcg tgctggggac tttcatcacg gagtggaatg aagggggaag
      721 gctctgtgaa gccttcctgg ccggggatga gcgctcgtac caggcagtgg ctgaccggct
      781 ggtccagatc actcagtttt ttcgttttga tggctggctg atcaacatcg agaactcgct
      841 gagtctggcc gctgtgggga acatgcctcc tttcctgcgg tacctcacca cacagctgca
      901 ccggcaggtc ccagggggcc tggtgctctg gtatgacagc gtggtgcaaa gtgggcagct
      961 caaatggcaa gacgaactca accagcacaa cagggtcttc tttgattcct gcgacggctt
     1021 cttcactaac tataactggc gggaggagca cttggagcgg atgctggggc aggctgggga
     1081 gcgccgggct gatgtgtacg tgggcgtgga tgtgtttgct cgagggaacg tggtcggagg
     1141 ccgattcgac acagacaagt cgttggagct gatccgaaag catggcttct ccgtggcttt
     1201 gtttgccccc ggctgggtgt atgagtgtct ggagaagaag gatttcttcc agaaccagga
     1261 caagttctgg ggccgactgg agcgttatct gcccacacat agcatctgct ccttgccttt
     1321 cgtcacgtcc ttctgcctgg gcatgggtgc acggagggtc tgctatggcc aggaagaggc
     1381 ggtagggccc tggtaccacc tgagcgccca ggagatccag cccttgtttg gagaacacag
     1441 gctgggaggg gatggccggg gctgggtgag gacgcactgc tgcctggagg atgcctggca
     1501 cggaggcagc tccctgctcg tccggggtgt gatcccaccg gaggttggaa atgtggctgt
     1561 gaggttattt tccctgcagg ccccagtgcc acccaagatt tacctgtcca tggtgtataa
     1621 gcttgagggg cccacggacg tcacagttgc tttggagctg accacagggg atgccggcag
     1681 ctgccacatc ggtggcatct cagtgttgaa cgcagaaaca agctcaagac acagcctccg
     1741 acccctccgg gtgcccccca ccaagctggc cagatgggtg ggccgctgcg gccggcagct
     1801 gagtgggggc tgggtccagc actgctacga ggtgagcctg cgtgggtgcc tgctgctaga
     1861 cctcctcgtt tgcttctcac ggccgccggg tagtcgggag gaggagagct tcacctgtcg
     1921 gcttggagag atccaggtgg tggacgctgc cagcctgctg gcccctctgc cccaggtgca
     1981 ggccgtcacc atctctcaca tccgctggca gccatccgcc tctgagcggg aggggccccc
     2041 tgctctgctc cagctcagct gcaccctgca ctggtccttc ctcctctcac aagtccgttg
     2101 cttccgaatc cactgctggg gagggatgag tgatgactct ccgggcaggg agctgccgag
     2161 gccagagatg cccatgttcc tggggttggc ttttgccacc cagtaccgga tagtggacct
     2221 gctggtggaa gccgccgggc ccggccagga tcgtcgcatg gaatttctgg tggagcctgt
     2281 ccccaaggaa gggttccggg tacctcaggc cgagtggggc agggcagttc tgctttattc
     2341 agcccctgca tgagcggatg ctaaggccgg gtggtctcct ggcctcgggc tgaggcctct
     2401 tcccggctgt ctgcccctgg cctgcgctgg acctgctaag tgcccacagt ggcagcgagg
     2461 tcccggtccc ggggctgggg tgggagaccc cgggctgagt gctgtggctt tctggtgggg
     2521 ggcgatggaa acaggaaacc aagcagtggg atcgcagcgt tggtcactgc gaggcgagtg
     2581 gcgggctttc tgtttctgcc ttgtccctcc ccacggtacc tggttcccag gtgaaaatga
     2641 aaggagggga gaagttgaga acagaacatt ccataaagga tatttcctaa taggctgcaa
     2701 gatgctgatg ccgagaatga tgattttctt tcctgcagat gaaactatta gaaagggtct
     2761 tagattgtgg caggtaggct ttggagcagg cgccgagaca tttctgagca tgaggacgag
     2821 ctacagcagc tcctggggtg gggctgcctg cgggatggcg ggagaggatg ccctggagaa
     2881 ccgtcctccc agtgtggaag gcccttttcc ctgaggagtg ggcattctgg gccagccggc
     2941 gctggcttcg tgcctccacg tgggccagcc ccagctgctc cgtgtttcct ggcgttggca
     3001 atttactgtg ctgctgagtg tgaggtcatc tccggagcgt tttcagcagc ccctggctct
     3061 gcggcgtctc ttccgggctg tgggcatgca gggaagtggc tctgaggcag tctgcgctgt
     3121 ggccctgcct ctgcccagcg agaggccgtg ggctctggac aagccgccct tcaggctggg
     3181 gtagcaggtc agtccaggca ggaagcagca cctgcccccc gcgccagccc agccccagcc
     3241 tgagtgcagg agctgcagga cccgcggggg cttttccagc tactctgttc cttcacgtcc
     3301 tcccttctca gcctcgtcca agcaccggga agacctccag gctgacccct tgagcagcag
     3361 tcagcacagg tgcgtggggg cgtgagggag gcagggtctt caccacaggc gccttcctct
     3421 gtccttcctg ctctttcttc tctgcccagg ccgctgcagc tgcacagcct ctgctacacc
     3481 tgggctgcct gggaggcttc ctggtgtggt gtctggaccc cacggccttg ggtcatcctg
     3541 tggctggtct ggggtggggt ctgttgtggt ccttccacgg tgtcagtggc ctgaagtccc
     3601 tcgcttttgg ggggggggtc tctcaccccc aggccacata gggccagtgg taggggttcc
     3661 ctctatgtcg ggcagtgctg agggctggga tgctctgtga ccccagctgg agcccacacc
     3721 taagggctgg catccacatc atttcaccct gcagtgaggg aagaggccac caggtggcag
     3781 cacagccaca cccgttccca cgtcagagga gggcaaggct gggtactcag cagccactct
     3841 gagccggggc tccttccagg agctgaaatc cacctgtctc catcttcctt gcctgcctgg
     3901 gtactcatgc caagcagaga ctgggattag gggttctgtg ctcttgccta attaggaaca
     3961 ttctcccatg tctcttgtgt ggtcccagaa ggagaagtga gtttgccaag gatatggggc
     4021 aggaggctcc ctctgctgac cccctgcagc ctggagccag cccggggact gtcctgggtg
     4081 gagggcaggt gaacacaagc tgctgccggg gactgtcctg ggtggacggc aggtgaacac
     4141 aagcggctgc cgcatgtagc cactcactcg actttttttc agctgtgacc attcccggga
     4201 gctctttgag cctttctgtc tcatttggaa ccagggggaa ccaggaaggg gctcctggcc
     4261 tctctgtgtc ctctgcagtg ggggttgtgg ggggcgcagc atccacgcct tgctgccctt
     4321 ctttcatgaa gtctgttttt taagtgctgg ttcccccgaa tattttatgc agaggaggga
     4381 aaatttatag tggcaattat tttctcacag tctggtgagc aggcaattaa ttaggagtaa
     4441 gggggcctag tagagcgtgg cgtgtggcag aatcgcaccg ccccggctcc ccagcccacc
     4501 gccatgcagg gctcgcgtgc gggaaaacta atatgccggc gtttaagcct gtgcccctct
     4561 gctgggtgta actgcgctga aataaatgat ctgacaatgt gaa
//
LOCUS       NM_001042590           14670 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens transmembrane protein 8B (TMEM8B), transcript variant
            1, mRNA.
ACCESSION   NM_001042590
VERSION     NM_001042590.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 14670)
  AUTHORS   Liu L, Wang R, Zhang Z and Wang X.
  TITLE     Nasopharyngeal carcinoma-associated gene 6 inhibits cell viability,
            migration, invasion and induces apoptosis in osteosarcoma cells by
            inactivating the Wnt/beta-catenin signaling pathway
  JOURNAL   Mol Med Rep 23 (2) (2021)
   PUBMED   33300077
  REMARK    GeneRIF: Nasopharyngeal carcinomaassociated gene 6 inhibits cell
            viability, migration, invasion and induces apoptosis in osteosarcoma
            cells by inactivating the Wnt/betacatenin signaling pathway.
REFERENCE   2  (bases 1 to 14670)
  AUTHORS   Wang YT, Sun XY, Wang H, Huang TT, Wang Y and Yang MX.
  TITLE     Effects of NGX6 expression on proliferation and invasion of
            nasopharyngeal carcinoma cells and survival of patients
  JOURNAL   Eur Rev Med Pharmacol Sci 21 (23), 5378-5385 (2017)
   PUBMED   29243779
  REMARK    GeneRIF: NGX6 is lowly expressed in nasopharyngeal carcinoma, and it
            can inhibit the proliferation and invasion of nasopharyngeal
            carcinoma cells.
REFERENCE   3  (bases 1 to 14670)
  AUTHORS   He S, Zhong Y, Shuai C, Gao D, Wei P, Li G and Peng S.
  TITLE     Tumor suppressor NGX6 inhibits the growth and metastasis of multiple
            cancers
  JOURNAL   Tumour Biol 37 (5), 5751-5760 (2016)
   PUBMED   26880583
  REMARK    GeneRIF: NGX6 possesses various biological functions, such as
            regulating protein expression of related genes, involving cell
            signal transduction pathways, negatively controlling cell cycle
            progression, inhibiting angiogenesis, and increasing the sensitivity
            of patients to anti-cancer drugs. Review. Review article
REFERENCE   4  (bases 1 to 14670)
  AUTHORS   Mezzavilla M, Ulivi S, Bianca ML, Carlino D, Gasparini P and Robino
            A.
  TITLE     Analysis of functional variants reveals new candidate genes
            associated with alexithymia
  JOURNAL   Psychiatry Res 227 (2-3), 363-365 (2015)
   PUBMED   25882097
  REMARK    GeneRIF: From our analysis, variants in the genes ABCB4, TP53AIP1,
            ARHGAP32 and TMEM88B were identified linked to the alexithymia
            phenotype.
REFERENCE   5  (bases 1 to 14670)
  AUTHORS   Xiao J, Zhou Y and Zhu W.
  TITLE     Association of ultrasonographic features with NGX6 expression and
            prognosis in invasive ductal breast carcinoma
  JOURNAL   Int J Clin Exp Pathol 8 (6), 6458-6465 (2015)
   PUBMED   26261522
  REMARK    GeneRIF: Ultrasonographic features are associated with NGX6
            expression in invasive ductal breast carcinoma. NGX6 is involved in
            the invasion and metastasis activity of IDBC. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 14670)
  AUTHORS   Ma J, Zhou J, Fan S, Wang L, Li X, Yan Q, Zhou M, Liu H, Zhang Q,
            Zhou H, Gan K, Li Z, Peng C, Xiong W, Tan C, Shen S, Yang J, Li J
            and Li G.
  TITLE     Role of a novel EGF-like domain-containing gene NGX6 in cell
            adhesion modulation in nasopharyngeal carcinoma cells
  JOURNAL   Carcinogenesis 26 (2), 281-291 (2005)
   PUBMED   15498789
  REMARK    GeneRIF: NGX6 plays a role in cell adhesion modulation in NPC cells.
REFERENCE   7  (bases 1 to 14670)
  AUTHORS   Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X,
            Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X, Xu
            H, Guo M, Pan Z, Chen Y, Ge C, Yang S and Gu J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   8  (bases 1 to 14670)
  AUTHORS   Zhang XM, Wang XY, Sheng SR, Wang JR and Li J.
  TITLE     Expression of tumor related genes NGX6, NAG-7, BRD7 in gastric and
            colorectal cancer
  JOURNAL   World J Gastroenterol 9 (8), 1729-1733 (2003)
   PUBMED   12918109
  REMARK    GeneRIF: down-regulation may be closely associated with
            tumorigenesis and metastasis of colorectal carcinoma; may not
            contribute to development and progression of gastric carcinoma.
REFERENCE   9  (bases 1 to 14670)
  AUTHORS   Ma J, Li J, Zhou J, Li XL, Tang K, Zhou M, Yang JB, Yan Q, Shen SR,
            Hu GX and Li GY.
  TITLE     Profiling genes differentially expressed in NGX6 overexpressed
            nasopharyngeal carcinoma cells by cDNA array
  JOURNAL   J Cancer Res Clin Oncol 128 (12), 683-690 (2002)
   PUBMED   12474055
REFERENCE   10  (bases 1 to 14670)
  AUTHORS   Li J, Tan C, Xiang Q, Zhang X, Ma J, Wang JR, Yang J, Li W, Shen SR,
            Liang S and Li G.
  TITLE     Proteomic detection of changes in protein synthesis induced by NGX6
            transfected in human nasopharyngeal carcinoma cells
  JOURNAL   J Protein Chem 20 (3), 265-271 (2001)
   PUBMED   11565907
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC082765.1, SRR1660803.204650.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000643932.2/ ENSP00000493496.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL133410.32.
            On May 17, 2019 this sequence version replaced NM_001042590.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..14670
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..14670
                     /gene="TMEM8B"
                     /gene_synonym="C9orf127; FP588; LINC00950; NAG-5; NAG5;
                     NGX6; NGX6a"
                     /note="transmembrane protein 8B"
                     /db_xref="GeneID:51754"
                     /db_xref="HGNC:HGNC:21427"
                     /db_xref="MIM:616888"
     CDS             221..2995
                     /gene="TMEM8B"
                     /gene_synonym="C9orf127; FP588; LINC00950; NAG-5; NAG5;
                     NGX6; NGX6a"
                     /note="isoform c is encoded by transcript variant 1;
                     nasopharyngeal carcinoma related protein; nasopharyngeal
                     carcinoma expressed 6; nasopharyngeal carcinoma-associated
                     gene 6 protein"
                     /codon_start=1
                     /product="transmembrane protein 8B isoform c"
                     /protein_id="NP_001036055.2"
                     /db_xref="CCDS:CCDS94406.1"
                     /db_xref="GeneID:51754"
                     /db_xref="HGNC:HGNC:21427"
                     /db_xref="MIM:616888"
                     /translation="MAQPLSRPLVLSQSPPWPPAPPSPRFPHRPQPLPGSPSRTPFQSL
                     PLAWPPSRPRPSFHPLSQIPAQALSQPHSQCLLKALAQPRPLLQSPSQPFLPSHSLPLF
                     KPQCPAQPNPLSQPLPSSLCLPKSLPLVPPISHTLPLSQPRLKSGFQLPPALLLLLLFS
                     VLGPGAGGLFLTDYSTCSPRKLSPFRSFASTELFHFHVPEDTFLAVWNLIIFKEQGGTF
                     GDHCPDQSVTVYFRSGAPPVINPLHTHFPGDTAVPGVFSLTLSWTLPNRTSGIFNVSSP
                     LPGDWFLAAHLPQAHGHISVKGLQDECQYLLQPQLIVRRLLDVAVLVPGRPSEQTLSPH
                     NRSALYKVFVPSFTYRVSAQLVCVGGRGVSACPLSLRLRPKAPPLHNSSSVACGGASGC
                     QLELALPPWGHWVYVRVETSSRGPGRTIRFQLCVRLQECPQPGLLRALVPGAAMNMPQS
                     LGNQPLPPEPPSLGTPAEGPGTTSPPEHCWPVRPTLRNELDTFSVHFYIFFGPSVALPP
                     ERPAVFAMRLLPVLDSGGVLSLELQLNASSVRQENVTVFGCLTHEVPLSLGDAAVTCSK
                     ESLAGFLLSVSATTRVARLRIPFPQTGTWFLALRSLCGVGPRFVRCRNATAEVRMRTFL
                     SPCVDDCGPYGQCKLLRTHNYLYAACECKAGWRGWGCTDSADALTYGFQLLSTLLLCLS
                     NLMFLPPVVLAIRSRYVLEAAVYTFTMFFSTFYHACDQPGIVVFCIMDYDVLQFCDFLG
                     SLMSVWVTVIAMARLQPVVKQVLYLLGAMLLSMALQLDRHGLWNLLGPSLFALGILATA
                     WTVRSVRRRHCYPPTWRRWLFYLCPGSLIAGSAVLLYAFVETRDNYFYIHSIWHMLIAG
                     SVGFLLPPRAKTDHGVPSGARARGCGYQLCINEQEELGLVGPGGATVSSICAS"
     polyA_site      3584
                     /gene="TMEM8B"
                     /gene_synonym="C9orf127; FP588; LINC00950; NAG-5; NAG5;
                     NGX6; NGX6a"
                     /note="major polyA site"
     regulatory      5372..5377
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM8B"
                     /gene_synonym="C9orf127; FP588; LINC00950; NAG-5; NAG5;
                     NGX6; NGX6a"
                     /note="hexamer: AGTAAA"
     polyA_site      5395
                     /gene="TMEM8B"
                     /gene_synonym="C9orf127; FP588; LINC00950; NAG-5; NAG5;
                     NGX6; NGX6a"
     regulatory      14583..14588
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM8B"
                     /gene_synonym="C9orf127; FP588; LINC00950; NAG-5; NAG5;
                     NGX6; NGX6a"
                     /note="hexamer: AATAAA"
     polyA_site      14606
                     /gene="TMEM8B"
                     /gene_synonym="C9orf127; FP588; LINC00950; NAG-5; NAG5;
                     NGX6; NGX6a"
     regulatory      14632..14637
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM8B"
                     /gene_synonym="C9orf127; FP588; LINC00950; NAG-5; NAG5;
                     NGX6; NGX6a"
                     /note="hexamer: AATAAA"
     polyA_site      14670
                     /gene="TMEM8B"
                     /gene_synonym="C9orf127; FP588; LINC00950; NAG-5; NAG5;
                     NGX6; NGX6a"
ORIGIN
        1 acgccgacgt caagtcgagg ccgccgccgc ggggcctggt tatcgccggt tcagcgcagc
       61 ccggagtcgc ccaggcctga actcctaccc aggtccccgg cccccgcccc gggcccgcga
      121 ggacaccgga ggccaccccc cgggggtggg gagcggagcc gcgggccagc tctgcgagcg
      181 ccccgcgctg gcctgtccgg ccccgccccc gccccgggcc atggcccagc ccttgtcccg
      241 gcccctcgtc ctatcccaat ccccgccttg gcccccagcc ccgccctcgc cccgcttccc
      301 acatcggccc cagcccctgc ctgggtcccc atccaggacc cccttccagt ctctgcccct
      361 ggcctggccc ccatcccggc ctcggccctc gttccacccc ctgtcacaaa tcccagccca
      421 ggccctgtcc cagccccatt cccagtgttt gcttaaggcc ctggctcaac cccgtccctt
      481 gctgcagtcc ccatcacagc ccttccttcc atcccactcc ctgcccttgt tcaagcccca
      541 gtgtccagcc cagcccaacc cattatctca gcctttgccc tcatctctgt gtttacccaa
      601 gtctctccct ctagtccccc ctatctctca tactctgccc ctctcccagc ctagactcaa
      661 gtctgggttt cagctgccgc cagccctatt gctgctgttg ctgttctctg tccttggccc
      721 aggggctgga ggccttttcc tgactgatta ctccacctgc tcaccccgca agctgagtcc
      781 tttccgctcc tttgccagca ccgagctctt ccacttccat gttcctgagg acacattcct
      841 ggctgtttgg aacctcatca tcttcaagga gcaaggggga acttttgggg accactgccc
      901 agaccaaagt gtgactgtgt atttccggtc cggggcaccc cctgtcatca atcccctgca
      961 tacacacttc ccaggggaca cagctgtgcc tggggttttc tcactgaccc tcagctggac
     1021 actgcccaac cgcacctcag gcatctttaa cgtcagcagc cccttacctg gggactggtt
     1081 cttggctgcc caccttcccc aggcccacgg ccacatctct gtcaagggtc tccaggatga
     1141 gtgtcagtac ctccttcagc cgcagctgat tgtccggcgt ttgctggacg tcgctgtgct
     1201 ggttcctggc cggccctcag agcaaaccct ctccccacac aatcgctcag ccctgtacaa
     1261 ggtctttgtg cccagcttca cttacagggt ttcagcacag ctggtgtgtg tggggggccg
     1321 tggggtatct gcctgccccc tgtcactgcg tctgcgtccc aaagccccac ccctgcacaa
     1381 ctcaagctct gtggcctgtg gaggtgcctc aggatgccag ctggagctgg cactgccccc
     1441 ctgggggcac tgggtctacg tgcgtgtgga aacatcatcc cggggccctg gtaggaccat
     1501 ccgcttccag ctgtgtgtgc ggttgcaaga gtgcccacag cccggcctgc tccgagccct
     1561 ggtccctgga gctgccatga acatgcccca gtccctgggc aaccagccac tgcccccaga
     1621 accgccatcc cttggaaccc ctgcggaggg gcctgggacc acgtccccac ccgagcactg
     1681 ctggccagtg cgcccgactc tgcgcaacga gctggacacc ttctctgtcc acttctacat
     1741 cttctttggc ccaagtgtgg cccttccccc tgagcgccca gccgtgttcg ccatgaggct
     1801 gttgccagtg ctggacagtg gaggcgtcct cagcctggag ctccagctca atgcgagctc
     1861 cgtgcgccag gaaaacgtga cggtgtttgg atgcttgact cacgaggtgc ccttgagcct
     1921 gggggatgca gcagtgacct gttccaaaga gtccctggcc ggcttcctcc tctctgtcag
     1981 tgccaccacc agggttgcca ggctgcgaat cccattcccg cagacgggga cctggttcct
     2041 ggccctccgc tccctgtgcg gggtggggcc tcggttcgtg cggtgccgca acgcgacggc
     2101 cgaggtgcgg atgcgcacct tcctgtcccc atgcgtggac gactgcgggc cctacggcca
     2161 gtgcaagctg ctgcgcacac acaattatct gtacgcagcc tgcgagtgca aggccgggtg
     2221 gagaggctgg ggctgcaccg acagtgcaga tgcgctcacc tatggattcc agctgctgtc
     2281 cacactcctg ctctgcctga gcaacctcat gtttctgcca cctgtggtcc tggccattcg
     2341 gagtcgatat gtgctggaag ctgcagtcta caccttcacc atgttcttct ccacgttcta
     2401 tcatgcctgt gaccagccag gcatcgtggt tttctgcatc atggactacg atgtgctgca
     2461 gttctgtgat ttcctgggct ccttaatgtc cgtgtgggtc actgtcattg ccatggctcg
     2521 tttacagccc gtggtcaagc aggtgctgta tttgctggga gctatgctgc tgtccatggc
     2581 tctgcagctt gaccgacatg gactctggaa cctgcttgga cccagtctct tcgccctggg
     2641 gatcttggcc acagcctgga cagtacgcag cgtccgccgc cggcactgct acccacccac
     2701 gtggcgccgc tggcttttct acttgtgccc tggcagcctt attgcaggca gtgccgtcct
     2761 gctttatgct tttgtggaga cccgggacaa ctacttctac attcacagca tttggcatat
     2821 gctcattgcg ggcagtgtgg gcttcctgct gccccctcgt gccaagactg accacggggt
     2881 cccatctgga gcccgggccc ggggctgtgg ttaccagcta tgcatcaacg agcaggagga
     2941 gctgggcctc gtgggcccag gaggggccac tgtcagcagc atctgtgcca gctgagaggg
     3001 gctttgggcc tggccctgag gggatatgaa tgcttcctag agttctttct gggggtgtgg
     3061 agccctctta gaaggagaca ggctgtattt cttgaggaca tggagtcttt ctcaaggaca
     3121 caaaactctt ccagggacct ggagcccttc ccaggacatg gagaacttcc tgagggcctg
     3181 gagtccccct gcatcatgga gtccttctta aggactggag cctatgcagg cacagagtcc
     3241 ctcaggacca aggagtccct cctgcaggtg tggagccttt cctgggatgc agagccttcc
     3301 caagacatgg attccttccc agggagacaa agccctgtca ggagcacagc atctttccag
     3361 aggaggtgga gtctatcttg gggaaaccaa atttccagat tttcccagag gctcagcaac
     3421 tctggcctca ggcttccttc ccagaggcag cgtctgggct gtgctgtgct gtggaggagg
     3481 gattgcagga tggatggagc tgggactggg gctgtctggg tggctggtat cctcgtttga
     3541 tacaggtgga gtctgtgtgt ctccagtgat tgattggttc agaatggttc tgtgatgcct
     3601 tttttccccc tggggtcagg ggtgtgggga agtggggaaa gagggcccct cagggaatca
     3661 gcagggctga tgggagctac tgccggaggc ttttgtcaca ccctgtacac agtctgatcc
     3721 cgctcatctg ggccctgcat tcatttctaa acagtttcta atgcctattc cccaattcct
     3781 attgagcccg atttgcagta tctgaggggt gtgtgtgtgt gtgtgtgtgt ttatgtatgt
     3841 atacgtatgc tgagatgatt taaatcagtg agacagactt tccttatgat gcccacaccc
     3901 aacacagaag gaagccgagg tcccaggaaa ttggaatagc aggtacacgt ctcaggtgtg
     3961 caagaaatat cacaagaatg taacttctgt tttgagcccc catttttcct gagtgccaga
     4021 aaagatcatt tgtccatttg ggattccttc tctttccatg agggtcatag ctgagttctg
     4081 agggtcttac ataatgccaa gaagttggga gagcattctc actgatcacc agtgtccata
     4141 cttcatccat ccccgggatt tccatcattc catctggtcc ccagtcagag gtccagacag
     4201 ttcatctggg atgcagagag atttcttgtt cccatttgca ttactctctc agtcctaagg
     4261 ttctctctgc cacttctggg ccatatgtgg agacccgtaa agttgtctaa ggccttggct
     4321 atgcagacac accttgaagc tgtttctgct ctgggttttg acagacaagg catgagttgc
     4381 tgcatctgtt aaaactgcaa atctatcttg gcctggggtg tggagctcag ggactcttcc
     4441 ttttgggacc ctctgtgtca gtattctcac tacatcctct cctcctctct cttctttccc
     4501 cctttcgtta atattggagg tgaggaagcc ttacttaatg ttttctcctg aatctttttt
     4561 tttttgagac ggagttttgc tcttgttgcc caggctggaa tgcaatggtg cgatctcagc
     4621 tcactgcaac ctctgcctcc cgggttcaag tgattctcct gtctcagcct cccgagtagc
     4681 tgggattaga ggtgtgcacc accaagccca gctaattttt gtatttttag tagagatggg
     4741 gtttctccat gttggtcagg ctgctctcaa actcccggcc tcaggtgatc cacccgcctc
     4801 ggcctcccaa agtgctggga ttacagttgt gagccaccgc gcctggcctc tcctgaatct
     4861 tttatctatg ccttaagcct tttctgttcc cttcaggacc taggcttttg aaacccaaaa
     4921 gccaggaaaa catgcctttg ttatctgctt tctgcaatca cgtctcttcc atggggcact
     4981 gagcagagaa tggtgtggcc aagtgagtag tgagaagcag tgaggaggtg tgagctaggt
     5041 gtctgttccc attttagaaa atactgttcc tacatcagaa ataccacatt aagacgtata
     5101 gagccaggtc actgggatgc ttgaacccaa atagctggga ttctggacag agtcagcaga
     5161 gtacagaagg ctctgaagtg ggagacggag ctggggtgca tccctcccag tgaggagggg
     5221 tcatgagggg cgtctgggaa gagggacatt tgaactagga ttagctgagt tgccatgatg
     5281 ctaagataat gggagagtgt tctttgtggt caccagtgtc cacatggcat cccttccctg
     5341 agattttcat cactccctgt ggtcttcagt cagtaaagct cttagaacac ttgtatagtg
     5401 cctagtctgg tatgtgatgt ggtccaatat atgttagctt aaggtcacca cgtgtttgga
     5461 catggagagg gaacagcaag ggggaatgca gaggcaggaa agactgatat ttactccggg
     5521 cactgaatag ttcagtgtgc ctgggccagt gcatgtgcgc atgcttttgt gtgtggagtg
     5581 gggtggtgga ggtaagcagc caatgatatg attagataga taagtggagg ttgggtcttt
     5641 attctatggg aaatgaggag ccattggaga gattaagcag gagaggaaca tcagattggg
     5701 gttttgatgg ctggggcaga ggatggactt tgggagacct tggaggacaa agtgcagtga
     5761 ccacagctat tggaacattt gaaagagaaa tggtgaagcc ttcttaaagc aatatcggtg
     5821 gaaaggaggg gaccaattta agagctgtta ggagtgaact ctttaggact tggtgactga
     5881 ttgggtgtgt ggggtggtga ggtatgagag agcctaggat gatggtgata ttctgatttg
     5941 gggatggtgg tgccattccc tgagatggtg acaccacttt gggtgggggg aagatgagct
     6001 ccactttgga cagtttgagg tgcatgtggg attcccggag ggaagggggc cagcaatatg
     6061 acagtgctgg acgtagccgc tgaaccaggc ctgtctccag gctcccaaaa tgggaatcct
     6121 tggttgtctc ctgacttgtc tcagtggggg agatcccaag attcaaacag cccttccttg
     6181 ccttgaatac agggctgtgg ctggcagata ttgctgtacc cttgcatgta tctgtacata
     6241 cgactggact gagacccctg agcacttgca gctgcctggg gcatgttcag cagcacaggg
     6301 ctcaatcccc acagggtgat gttctgaaag cttctgagtg acaattcagt cccgcaaacc
     6361 ttccataggg aacatgctgt gggagctaca gagatgagcc agacccgact gaatcctgcc
     6421 ctgaaggagc tcacacggtg gtgaagtgtc atgaatgcaa gttagatggg acaagtgtga
     6481 agtggaagat cctgacaaag tgctgtagga tgtaaagaga gcgatctcaa agtgcaatgg
     6541 gaaaggatgc atgagagaga tggtgtctaa cctagctttg aaaactagtc ccagctatta
     6601 tcagagaaca gcacaataca tacaagggtg cgaagacatg ggggtgcggc agtacagata
     6661 atgtagcgag gggacagcca tgtgaagggc atagtggaaa atcaggctga agaagcaggt
     6721 gggggcagat tctggagggc cttgaggatt caactgaaga atttggactt aatggtaatg
     6781 ggagctgtca aaagtccttg atcagaagag tgatgaatca atccaggttt gaccaaagta
     6841 acagaaccac tatgagtgat aaaaagatta gacctttaca gtcatgggag cagttggaga
     6901 aatctgtgca aaactgttac ttctgcattt ggtgttgggc ctgaagctgt tacagctcag
     6961 ctgggccagc agttaggaaa gaaggctgag tgtgaagtga ggggcagtaa gggcacacta
     7021 gaatccagaa ggacaaactg gaacctgtgc ctggctctta tgccttcaat ctcagtgact
     7081 ggtgacctgc aggagaagct gtcacctttg ccatggagct tgcacttggc ccagcactca
     7141 gcacagtgga aggaggtgac ctggtgggga ctggacaggc tgtgctaatg gggagccagc
     7201 agatgagcaa catgggggtg ccctcactgt gtctggtgct gttccatttt ttttctttct
     7261 ttcttttttt tttttttgag acggagtctc actctgttgc ccaggctgga gtgcagtggc
     7321 gccatctcag ctcactgcag cctccacctc ccaagttcaa gcgatcctcc ctagtagctg
     7381 ggattacagg tgcaccacca cacctggcta attttttgtg tttttagtag aggcagggtt
     7441 tcatcacatt tcccgggctg gtctcgaact cctggcctca ggtgatcctc ccacctcggt
     7501 ctcccaaagt gctgggatta caggtatgag ccaccacacc tggcccactt ttgccttcca
     7561 aatcacatgc aaacttctct gtggccaacc ctaacccaca ccctctaacc tagtttggtt
     7621 gactcagtat aaagctacca cacgtgagct aaccagagct ttcttgggac gattaacttg
     7681 gcagcagccc gtgaaggata gatggtcagg ataaagaaag ccaaacctcc catagctctt
     7741 gggttgacac tgtcagctgg tgtggtagtc attaggccat tcacaaatct ctctgtccct
     7801 ctcgtttgcc atccagacac acgatagtgt gcttttcccc cttaacaata ggtgtggtcc
     7861 tgtgccttcc tgttgccatt gtgttggcca ctgaaatgta ggtggaggca acacagccac
     7921 ttctgagtag aagctttaag agtcagtgta ggctttgtta ctttcccttt tctttttgtc
     7981 atggtgacca gcagtgttcc caatggtagc tgttttgtca tcctgagtcc cagaggggtg
     8041 aagaccatga tgcggagcag aagccccacc agcctctggt ggacctgcat caggagcaag
     8101 aaacaaacct taatggcttt aagcctctca aggtttgagg tcatgaccac agcacaacct
     8161 agcctatgcc agctgacagg ggcagagggc agcagtagca gtgggatgct ttcctggaga
     8221 gcaaacctcc tctcagcaga gttaggacgg cagctttcac ctctgcattc ctcaggctgt
     8281 aaatgatggg gttcagcgag ggcgtcacaa ccccgtagaa caatgcgaca gtcttatcca
     8341 cgttgggatc cttggccttg ggtttgaagt acatgaagga gattgtccca taaaaaacca
     8401 ccaccactgt gcggtgggct gagcaggtgg agaaggcttt gcaccggcct gcagcagagg
     8461 gtaccctaag gatggcagac aggatgaaaa ggtaagacag gcagatgagc aagagggggg
     8521 ccagtgtcag gacggctgtg gccaccatta atgccagcgc attgagggag atgtccccac
     8581 aggccagttt tagcactgcc aagatctcat agaagtagtt gatgacgtgg ccacagaagg
     8641 ggaggtgcca gacaaggatg gactgtagca gtgagttggc aaagcctgtc ccccagctca
     8701 gcgctgccat ctgcatgcag gtctgcccac tcatgagctc tgggtaccta agcggctggc
     8761 agatagccac ataacggtca tatgccatca cagccagcag caggcactcc gttgatccca
     8821 gcgccagggt caggtacatc tgcagggcac agccagggaa ggaaatggtc ctctgggttt
     8881 ccaggaaatt gtctagcatg agaggcacaa aggaggaggt gccgcagatg tccatgaggg
     8941 agaggttgct gagaagtaca tggggttgtg caggcgaggg tgcagcacgt tcagccctat
     9001 gaggagggcg ttccccaaca cattcacgga gtagatgccc aggcagaaca caaacaggac
     9061 cacctccagg ttacagtgct cgtgtagccc catcaggacg tattccgtca cagctgtctg
     9121 gtttgcccac ttcatctcat tctctctcct tttccatctg gaccacccag ctttttggaa
     9181 aaagctccaa ctggcctggg agcccagtga cctgatgtct gagctgcagc aggtcagcct
     9241 ccctctctgg aatttagttt caccatctgt ataatgaggg agttggactt cagatctgca
     9301 atctggcctt ctcagcgctg cagttctgtg gacgtcactg aggggaggat ggggcacatt
     9361 ctagtcccct aggctcctct ctgctctccc caggatgggg tcagaggaga cagcagagaa
     9421 agattcatgt ttaaaatgat cgtttggaat ccaaagtgtt tttggtcatt aacaggaagc
     9481 atcttttcta cattacggtt tcatgtgacc aaattatggc catagtattt cagatttatt
     9541 catccactaa gtatttatta agtacctatt ctgtgctagg tatcaggtgc tggggctata
     9601 gcagtaagga aagtaagtgg acaaaaggat tccacacctg tcacaggcgc tgccccactc
     9661 cctgagtcag gtgagatgag ctccggaagg caggtgggta atggatgatg ctcacctagt
     9721 gttccttggg ccatgaagat caaatatttc agccccatag gatgtgtaag cttgatttct
     9781 ggtcatctct ccttaaggaa tcatggacca ttcattattt tgtttaaaag gacacataag
     9841 aacgtacatg tctcaataga gttactggtc acaggactga actgtggtca tgaaagccaa
     9901 gcaacttact ttctggcctc catattgctt tgtaggagaa atgatactga caatgatgtc
     9961 acacgaggag ggaagccagg cacgaatctg gtggaggtgc ggtcagttgt gaccagcttt
    10021 gcaaagggag cggtgggcga ggctgtggtc tctcccaggt gacctccatc gccatgcaga
    10081 gctgctctca cttctcctcg ggaaaggcca gcgtcaggta ttcctaggag gaagcccagg
    10141 tgtgtccaga gaacagtagt cttgttagaa ctggaaaaat gtcttatggc caggtggccc
    10201 ctggtctgaa ggaaaaatag gagctgagtg tgaactttta tcactcagaa gatataatcc
    10261 acctctcccc tcctgccctt cgctcctggg ttggttgtga ggacagtgct ttgtgacagc
    10321 agtggagccc tgtctgtcct tccgggctag atttcttctt tctcttattc ctcctgtttc
    10381 gttgtatcca cgatttgtcg agttgcaggg ctcacccttt cctgaagaaa ccatctcttt
    10441 tcccagctcc gcacctttgt ccgagatgga ggcgtgtcct cccgcccatc cccagtgggg
    10501 ggtgttctgc ccattctcca gagcccagca ctgctccatc tcttttcctc cctctccttc
    10561 cccttgctgt tacctgctgc cttcttgtgc tcccactgcc cttggccatc cctctgtgtc
    10621 attgtgcgct gtggtgcacc tgtcttctct actacacctt aagagcagga ctctgcctcc
    10681 ttcctaccag cacctcatgc agcaagtgct gccaatagca ggcacccagc agatagcgaa
    10741 tgcacgactc caaaacccag ctttgcctcc tggctgtagt tcagactagc tgtgtgacac
    10801 tgaccaagac acttgacctc tctcagactc agcttcctcc ttgaagactg ggatgctatg
    10861 tagctcagag gaaacataca cctgaaggtg ctgccccggg gggtgcaatg acctgttact
    10921 gaggctggat ggaggatggc atccatcatc agctacaggt gcctcctcta tctacaggtt
    10981 cctgctccat ctatactagc cacctcctgg acaagggctc cagtgtcctc catgacacca
    11041 gctttctcca gagcctgtgc aggatttcct tcctctaccc tgaatcaggg tgattcttaa
    11101 aggacagttt caggaacata taggggcact tgggtaatct tggtcagtaa ctgaccttta
    11161 actatcatcc atgtgaacat ctacagttag ggattttctt ggtgatgttt ggcaaaaagt
    11221 aaagaattcc ccaagtgtga agcctcattc attcacttat tcaacaaata gttattgagc
    11281 acctactatg tgttaggccc tgggccaggt gctgggaata cagcagagac agacctggct
    11341 cctgccctca tggagtttgc agtcattcat tcactcactc ggtgactttg gacacctccc
    11401 cctcctctct ccaggcttta gatctctgag attctctctg agtctgggat gtaaagacaa
    11461 agtaaaacct gaaatctgga aagcagaact ataagagctt tgtttctgat gggggtgttg
    11521 ctgcagacag aactatgtcc atctcaaatt ctgacactgg acacaggcgt gggggtttca
    11581 agcaggccaa gggtgggaaa ccacctgact gcatttttct ttatcactca cacctctaac
    11641 agtaagacca agtgggcctg gcggaggcat ttgagggctt ttgtgtgtgc aggctctggc
    11701 ccgtcctcct gccttgcctc caccgcatcc ctcatgcaca cctgctgcag cctcatcaga
    11761 ccactccctg tcttttggac aaagcctgtg tgctccagtc ccatccctct tcttgggcag
    11821 tttcttcagg ctggagtgcc tttcttttct actcatcctt caaggctcag ttcacacacc
    11881 actgtctcgt gcagccttct ctcagatggc ttcataaaac tgaccacccg gacaacaaga
    11941 tggtcacaca gctattagtg gaggttaagt tcattctgcc ttcattatag ttcatttttc
    12001 ttgtatatct ctctctgact agactatgag ctattgcagt gaaagggctg tgtccttcat
    12061 cactgtcacc ctccagtgac ccgcagccag gaggtgtcag tgattgccat ttgagttgaa
    12121 ctatttattg acatccagtg ttgttctgcc aaaaatcctg atcctaggca tggtggtttg
    12181 cacctgtggt cacagctact cagaaggctg aggtgggagg agtacttgag cccaggagtt
    12241 cgaggttaca gtgaactatg attgtgccac tgcactccag cctgggcaac agagtgaggc
    12301 cctttctcta aaaaagcaaa cgaagaacgc tgaacccaag gtcttgcctc aaaatcaatt
    12361 cccccttccc cctccaacac atacaccgca acagaatgat acagctattg tgattgctag
    12421 gagaagggct ttgggcagtg ccagtctcct gtttgcagta acacctgctc tttctgaaga
    12481 gctacatcag taacatggtg ggttttcctc acaacttaaa agtctgatcg taacacattc
    12541 atggaaacta gaaccagcac acgaaaccat tggcttgtgg ccctaaagaa ataactctgt
    12601 gtccagaaaa tgccatgtta ccaggttgcc tacagctttg cctgtaacat gggcacaggc
    12661 tgggacatca gatagaagct ggttcccatg gtggctgggt tgggatgggc taagttatgt
    12721 tgcagtaacg tacaacctca tcattttagt ggctagcatg acgaagtttt atttctcatg
    12781 ctacatgtct actgtggctt tcccggtggc tcagggttct cagagcccct ggcagatgga
    12841 ggctccaccc tgtgggacgt caccagttgt tatggctggg gaaggacaca ctggaggctc
    12901 ttgctgctct gagccacagg agacatttgt catatctgca cacagcccac tggccctgcg
    12961 gcatcctacc acctgcccag aaggaggaga accagaatta ctgctgagca gctcctctgc
    13021 atgtgggtgc aatggcgtct tatgactctc agaaagctac tctagtggcc atctaccagt
    13081 gtcacgcagt gtcacgctcg gtcatggcct ggaagatcag agtcacagag ggataggacc
    13141 tggagtgtct ctgaaaatag ctgcctggtt tcactccccg gttttacgcc tcttgagaag
    13201 cagagtgatg cctagaatga gccctggact gggagggcac gtcccaggtt tgaatcgggg
    13261 cctttgttcc ttttctgctg tatgactttg gtcagatttc tccttctgag aagtggagcc
    13321 aattaagcga tctccgatat gctgtaatct ctgaaacatt tcctcatatg tttctagcaa
    13381 cttccaacct gaggtctgat agacccaggg ttactttgca agctaactga catatcagtc
    13441 tcattgtctg gtaaatctaa ttttaaccac ttaatactta ttttaggctt cacaaattat
    13501 tttaaaagaa aagatagggg cataacaaga agaaagcttc ggttacaatt tccccgaaat
    13561 gcctggatct gggattcctg cttcctggct gtgtggcaga gaagatgagg atggccctgg
    13621 agtcagacgg gactagggtc caagccccag ctcttccact tgttaacaat gttctcagcc
    13681 tcagcttcct tacctatacc atggagacgg cagtatttcc ttgtgggctt gttttaagga
    13741 tccagtgaca ggaagcatgc gaagctctta gaacagagcc tggcactggt aaatagtcag
    13801 tgagcagtag atgatattat taccatcctg tccctatccc tgtcccccag caaatatttt
    13861 ggcttttaaa tgttttaaat gatttcttga gaataagcaa tgggtcagat gaaatctcct
    13921 tacctctcac ctactggcca tggcctaaat gtctgtaggg agctggagcc aggtgagggg
    13981 agctgtggtt tgggaagtgc cgagttcatt atgagcaagt gcacggtgct gggatgggct
    14041 aggttccccg cacctcgccc tgccactgcc tcccaggacc tgcctcttgc tcccctgcca
    14101 catagacagt ctgcttgccc cctgctttca gggacctcat ggtccctgcc caatttaaag
    14161 ttcaaactct gcaactgcac aaagttgcag gcttggcagc tgtgggacct gggcttcaga
    14221 gactccaggt tcctcggcct gccccaggag ggccctgctg aggtgaagtg ggcataggag
    14281 agagagtgga cagagaatct gaatactggg tcacgttgca gttctgcgcc ttggatgcca
    14341 taggctccag gcccataagc ccggcttcac taggcctggg tgtctgggtt gtgaaatggg
    14401 gtgtctcctt ccaggattgc cgtaaggacc tggattcatc aaagcttaaa gtaaattgct
    14461 ttgtaaggtg ggagacaccg agtacaggcg agggacttta ttaggtcagg gatttaatca
    14521 ggcatctgtt tttacagatt tctttattcc tgttccctcc cctccccttc ctgtcctttc
    14581 acaataaaga ataacaactt gacacagctt agagactaaa aatcatcctt caataaagca
    14641 gcagaagttg caaagtttcc tatgatgcta
//
LOCUS       NM_001042600            2631 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1
            (MAP4K1), transcript variant 1, mRNA.
ACCESSION   NM_001042600
VERSION     NM_001042600.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2631)
  AUTHORS   Bader A, Winkelmann M, Forne I, Walzog B and Maier-Begandt D.
  TITLE     Decoding the signaling profile of hematopoietic progenitor kinase 1
            (HPK1) in innate immunity: A proteomic approach
  JOURNAL   Eur J Immunol 52 (5), 760-769 (2022)
   PUBMED   35099066
  REMARK    GeneRIF: Decoding the signaling profile of hematopoietic progenitor
            kinase 1 (HPK1) in innate immunity: A proteomic approach.
REFERENCE   2  (bases 1 to 2631)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (bases 1 to 2631)
  AUTHORS   He TS, Huang J, Chen T, Zhang Z, Cai K, Yu J and Xu LG.
  TITLE     The Kinase MAP4K1 Inhibits Cytosolic RNA-Induced Antiviral Signaling
            by Promoting Proteasomal Degradation of TBK1/IKKepsilon
  JOURNAL   Microbiol Spectr 9 (3), e0145821 (2021)
   PUBMED   34908452
  REMARK    GeneRIF: The Kinase MAP4K1 Inhibits Cytosolic RNA-Induced Antiviral
            Signaling by Promoting Proteasomal Degradation of TBK1/IKKepsilon.
REFERENCE   4  (bases 1 to 2631)
  AUTHORS   Ling Q, Li F, Zhang X, Mao S, Lin X, Pan J, Ye W, Wei W, Qian Y, Hu
            C, Huang X, Wang J, Wang H, Huang J, Wang Y and Jin J.
  TITLE     MAP4K1 functions as a tumor promotor and drug mediator for AML via
            modulation of DNA damage/repair system and MAPK pathway
  JOURNAL   EBioMedicine 69, 103441 (2021)
   PUBMED   34166980
  REMARK    GeneRIF: MAP4K1 functions as a tumor promotor and drug mediator for
            AML via modulation of DNA damage/repair system and MAPK pathway.
REFERENCE   5  (bases 1 to 2631)
  AUTHORS   Lau WL, Pearce B, Malakian H, Rodrigo I, Xie D, Gao M, Marsilio F,
            Chang C, Ruzanov M, Muckelbauer JK, Newitt JA, Lipovsek D and
            Sheriff S.
  TITLE     Using yeast surface display to engineer a soluble and crystallizable
            construct of hematopoietic progenitor kinase 1 (HPK1)
  JOURNAL   Acta Crystallogr F Struct Biol Commun 77 (Pt 1), 22-28 (2021)
   PUBMED   33439152
  REMARK    GeneRIF: Using yeast surface display to engineer a soluble and
            crystallizable construct of hematopoietic progenitor kinase 1
            (HPK1).
REFERENCE   6  (bases 1 to 2631)
  AUTHORS   Zhou G, Lee SC, Yao Z and Tan TH.
  TITLE     Hematopoietic progenitor kinase 1 is a component of transforming
            growth factor beta-induced c-Jun N-terminal kinase signaling cascade
  JOURNAL   J Biol Chem 274 (19), 13133-13138 (1999)
   PUBMED   10224067
REFERENCE   7  (bases 1 to 2631)
  AUTHORS   Ling P, Yao Z, Meyer CF, Wang XS, Oehrl W, Feller SM and Tan TH.
  TITLE     Interaction of hematopoietic progenitor kinase 1 with adapter
            proteins Crk and CrkL leads to synergistic activation of c-Jun
            N-terminal kinase
  JOURNAL   Mol Cell Biol 19 (2), 1359-1368 (1999)
   PUBMED   9891069
REFERENCE   8  (bases 1 to 2631)
  AUTHORS   Oehrl W, Kardinal C, Ruf S, Adermann K, Groffen J, Feng GS, Blenis
            J, Tan TH and Feller SM.
  TITLE     The germinal center kinase (GCK)-related protein kinases HPK1 and
            KHS are candidates for highly selective signal transducers of Crk
            family adapter proteins
  JOURNAL   Oncogene 17 (15), 1893-1901 (1998)
   PUBMED   9788432
REFERENCE   9  (bases 1 to 2631)
  AUTHORS   Anafi M, Kiefer F, Gish GD, Mbamalu G, Iscove NN and Pawson T.
  TITLE     SH2/SH3 adaptor proteins can link tyrosine kinases to a
            Ste20-related protein kinase, HPK1
  JOURNAL   J Biol Chem 272 (44), 27804-27811 (1997)
   PUBMED   9346925
REFERENCE   10  (bases 1 to 2631)
  AUTHORS   Hu MC, Qiu WR, Wang X, Meyer CF and Tan TH.
  TITLE     Human HPK1, a novel human hematopoietic progenitor kinase that
            activates the JNK/SAPK kinase cascade
  JOURNAL   Genes Dev 10 (18), 2251-2264 (1996)
   PUBMED   8824585
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.6850.1,
            SRR1163657.489551.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396857.7/ ENSP00000380066.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY074876.1 and U66464.1.
            On Nov 22, 2018 this sequence version replaced NM_001042600.2.
            Transcript Variant: This variant (1) lacks an exon in the 3' coding
            region, which results in a frameshift, compared to variant 2. The
            encoded isoform (1) has a shorter and distinct C-terminus, compared
            to isoform 2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2631
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..2631
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /note="mitogen-activated protein kinase kinase kinase
                     kinase 1"
                     /db_xref="GeneID:11184"
                     /db_xref="HGNC:HGNC:6863"
                     /db_xref="MIM:601983"
     misc_feature    11..13
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /note="upstream in-frame stop codon"
     CDS             59..2524
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /EC_number="2.7.11.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hematopoietic progenitor kinase 1; MEKKK 1; MEK kinase
                     kinase 1; MAPK/ERK kinase kinase kinase 1"
                     /codon_start=1
                     /product="mitogen-activated protein kinase kinase kinase
                     kinase 1 isoform 1"
                     /protein_id="NP_001036065.1"
                     /db_xref="CCDS:CCDS42564.1"
                     /db_xref="GeneID:11184"
                     /db_xref="HGNC:HGNC:6863"
                     /db_xref="MIM:601983"
                     /translation="MDVVDPDIFNRDPRDHYDLLQRLGGGTYGEVFKARDKVSGDLVAL
                     KMVKMEPDDDVSTLQKEILILKTCRHANIVAYHGSYLWLQKLWICMEFCGAGSLQDIYQ
                     VTGSLSELQISYVCREVLQGLAYLHSQKKIHRDIKGANILINDAGEVRLADFGISAQIG
                     ATLARRLSFIGTPYWMAPEVAAVALKGGYNELCDIWSLGITAIELAELQPPLFDVHPLR
                     VLFLMTKSGYQPPRLKEKGKWSAAFHNFIKVTLTKSPKKRPSATKMLSHQLVSQPGLNR
                     GLILDLLDKLKNPGKGPSIGDIEDEEPELPPAIPRRIRSTHRSSSLGIPDADCCRRHME
                     FRKLRGMETRPPANTARLQPPRDLRSSSPRKQLSESSDDDYDDVDIPTPAEDTPPPLPP
                     KPKFRSPSDEGPGSMGDDGQLSPGVLVRCASGPPPNSPRPGPPPSTSSPHLTAHSEPSL
                     WNPPSRELDKPPLLPPKKEKMKRKGCALLVKLFNGCPLRIHSTAAWTHPSTKDQHLLLG
                     AEEGIFILNRNDQEATLEMLFPSRTTWVYSINNVLMSLSGKTPHLYSHSILGLLERKET
                     RAGNPIAHISPHRLLARKNMVSTKIQDTKGCRACCVAEGASSGGPFLCGALETSVVLLQ
                     WYQPMNKFLLVRQVLFPLPTPLSVFALLTGPGSELPAVCIGVSPGRPGKSVLFHTVRFG
                     ALSCWLGEMSTEHRGPVQVTQVEEDMVMVLMDGSVKLVTPEGSPVRGLRTPEIPMTEAV
                     EAVAMVGGQLQAFWKHGVQVWALGSDQLLQELRDPTLTFRLLGSPRPVVVETRPVDDPT
                     APSNLYIQE"
     misc_feature    551..553
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:24362026; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1); phosphorylation site"
     misc_feature    569..571
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /note="Phosphoserine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:24362026; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1); phosphorylation site"
     misc_feature    581..583
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:24362026; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1); phosphorylation site"
     misc_feature    944..1492
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92918.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1121..1123
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /note="Phosphothreonine, by autocatalysis.
                     /evidence=ECO:0000269|PubMed:24362026; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1); phosphorylation site"
     misc_feature    1178..1180
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70218; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1); phosphorylation site"
     misc_feature    1184..1186
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P70218; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1); phosphorylation site"
     misc_feature    1271..1273
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1); phosphorylation site"
     misc_feature    1277..1279
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1); phosphorylation site"
     misc_feature    1295..1297
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1); phosphorylation site"
     misc_feature    1319..1321
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1); phosphorylation site"
     misc_feature    1814..1816
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19369195; propagated from
                     UniProtKB/Swiss-Prot (Q92918.1); phosphorylation site"
     regulatory      2608..2613
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /note="hexamer: AATAAA"
     polyA_site      2631
                     /gene="MAP4K1"
                     /gene_synonym="HPK1"
                     /note="major polyA site"
ORIGIN
        1 agttgagccc tgaggccctg ctggcccctg ggcgcaggcc cagctcaggc ccccagggat
       61 ggacgtcgtg gaccctgaca ttttcaatag agacccccgg gaccactatg acctgctaca
      121 gcggctgggt ggcggcacgt atggggaagt ctttaaggct cgagacaagg tgtcagggga
      181 cctggtggca ctgaagatgg tgaagatgga gcctgatgat gatgtctcca cccttcagaa
      241 ggaaatcctc atattgaaaa cttgccggca cgccaacatc gtggcctacc atgggagtta
      301 tctctggttg cagaaactct ggatctgcat ggaattctgt ggggctggtt ctctccagga
      361 catctaccaa gtgacaggct ccctgtcaga gctccagatt agctatgtct gccgggaagt
      421 gctccaggga ctggcctatt tgcactcaca gaagaagata cacagggaca tcaagggagc
      481 taacatcctc atcaatgatg ctggggaggt cagattggct gactttggca tctcggccca
      541 gattggggct acactggcca gacgcctctc tttcattggg acaccctact ggatggctcc
      601 ggaagtggca gctgtggccc tgaagggagg atacaatgag ctgtgtgaca tctggtccct
      661 gggcatcacg gccatcgaac tggccgagct acagccaccg ctctttgatg tgcaccctct
      721 cagagttctc ttcctcatga ccaagagtgg ctaccagcct ccccgactga aggaaaaagg
      781 caaatggtcg gctgccttcc acaacttcat caaagtcact ctgactaaga gtcccaagaa
      841 acgacccagc gccaccaaga tgctcagtca tcaactggta tcccagcctg ggctgaatcg
      901 aggcctgatc ctggatcttc ttgacaaact gaagaatccc gggaaaggac cctccattgg
      961 ggacattgag gatgaggagc ccgagctacc ccctgctatc cctcggcgga tcagatccac
     1021 ccaccgctcc agctctctgg ggatcccaga tgcagactgc tgtcggcggc acatggagtt
     1081 caggaagctc cgaggaatgg agaccagacc cccagccaac accgctcgcc tacagcctcc
     1141 tcgagacctc aggagcagca gccccaggaa gcaactgtca gagtcgtctg acgatgacta
     1201 tgacgacgtg gacatcccca cccctgcaga ggacacacct cctccacttc cccccaagcc
     1261 caagttccgt tctccatcag acgagggtcc tgggagcatg ggggatgatg ggcagctgag
     1321 cccgggggtg ctggtccggt gtgccagtgg gcccccacca aacagccccc gtcctgggcc
     1381 tcccccatcc accagcagcc cccacctcac cgcccattca gaaccctcac tctggaaccc
     1441 accctcccgg gagcttgaca agcccccact tctgcccccc aagaaggaaa agatgaagag
     1501 aaagggatgt gcccttctcg taaagttgtt caatggctgc cccctccgga tccacagcac
     1561 ggccgcctgg acacatccct ccaccaagga ccagcacctg ctcctggggg cagaggaagg
     1621 catcttcatc ctgaaccgga atgaccagga ggccacgctg gaaatgctct ttcctagccg
     1681 gactacgtgg gtgtactcca tcaacaacgt tctcatgtct ctctcaggaa agacccccca
     1741 cctgtattct catagcatcc ttggcctgct ggaacggaaa gagaccagag caggaaaccc
     1801 catcgctcac attagccccc accgcctact ggcaaggaag aacatggttt ccaccaagat
     1861 ccaggacacc aaaggctgcc gggcgtgctg tgtggcggag ggtgcgagct ctgggggccc
     1921 gttcctgtgc ggtgcattgg agacgtccgt tgtcctgctt cagtggtacc agcccatgaa
     1981 caaattcctg cttgtccggc aggtgctgtt cccactgccg acgcctctgt ccgtgttcgc
     2041 gctgctgacc gggccaggct ctgagctgcc cgctgtgtgc atcggcgtga gccccgggcg
     2101 gccggggaag tcggtgctct tccacacggt gcgctttggc gcgctctctt gctggctggg
     2161 cgagatgagc accgagcaca ggggacccgt gcaggtgacc caggtagagg aagatatggt
     2221 gatggtgttg atggatggct ctgtgaagct ggtgaccccg gaggggtccc cagtccgggg
     2281 acttcgcaca cctgagatcc ccatgaccga agcggtggag gccgtggcta tggttggagg
     2341 tcagcttcag gccttctgga agcatggagt gcaggtgtgg gctctaggct cggatcagct
     2401 gctacaggag ctgagagacc ctaccctcac tttccgtctg cttggctccc ccaggcctgt
     2461 agtggtggag acacgcccag tggatgatcc tactgctccc agcaacctct acatccagga
     2521 atgagtccct aggggggtgt caggaactag tccttgcacc ccctccccca tagacacact
     2581 agtggtcatg gcatgtcctc atctcccaat aaacatgact ttagcctctg c
//
LOCUS       NM_001042603           10701 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens lysine demethylase 5A (KDM5A), mRNA.
ACCESSION   NM_001042603
VERSION     NM_001042603.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10701)
  AUTHORS   Li S, He J, Liao X, He Y, Chen R, Chen J, Hu S and Sun J.
  TITLE     Fbxo22 inhibits metastasis in triple-negative breast cancer through
            ubiquitin modification of KDM5A and regulation of H3K4me3
            demethylation
  JOURNAL   Cell Biol Toxicol 39 (4), 1641-1655 (2023)
   PUBMED   36112263
  REMARK    GeneRIF: Fbxo22 inhibits metastasis in triple-negative breast cancer
            through ubiquitin modification of KDM5A and regulation of H3K4me3
            demethylation.
REFERENCE   2  (bases 1 to 10701)
  AUTHORS   Yoo J, Kim GW, Jeon YH, Kim JY, Lee SW and Kwon SH.
  TITLE     Drawing a line between histone demethylase KDM5A and KDM5B: their
            roles in development and tumorigenesis
  JOURNAL   Exp Mol Med 54 (12), 2107-2117 (2022)
   PUBMED   36509829
  REMARK    GeneRIF: Drawing a line between histone demethylase KDM5A and KDM5B:
            their roles in development and tumorigenesis. Review article
REFERENCE   3  (bases 1 to 10701)
  AUTHORS   Huang Z, Wang H and Yang M.
  TITLE     Long non-coding RNA tumor protein 73 antisense RNA 1 influences an
            interaction between lysine demethylase 5A and promoter of tumor
            protein 73 to enhance the malignancy of colorectal cancer
  JOURNAL   Hum Cell 35 (5), 1512-1520 (2022)
   PUBMED   35896939
  REMARK    GeneRIF: Long non-coding RNA tumor protein 73 antisense RNA 1
            influences an interaction between lysine demethylase 5A and promoter
            of tumor protein 73 to enhance the malignancy of colorectal cancer.
REFERENCE   4  (bases 1 to 10701)
  AUTHORS   Liu H, Lin J, Zhou W, Moses R, Dai Z, Kossenkov AV, Drapkin R,
            Bitler BG, Karakashev S and Zhang R.
  TITLE     KDM5A Inhibits Antitumor Immune Responses Through Downregulation of
            the Antigen-Presentation Pathway in Ovarian Cancer
  JOURNAL   Cancer Immunol Res 10 (8), 1028-1038 (2022)
   PUBMED   35726891
  REMARK    GeneRIF: KDM5A Inhibits Antitumor Immune Responses Through
            Downregulation of the Antigen-Presentation Pathway in Ovarian
            Cancer.
REFERENCE   5  (bases 1 to 10701)
  AUTHORS   Wei M, Jiang Y and Huang Y.
  TITLE     TSG Targeting KDM5A Affects Osteogenic Differentiation of Bone
            Mesenchymal Stem Cells Induced by Bone Morphogenetic Protein 2
  JOURNAL   J Healthc Eng 2022, 6472864 (2022)
   PUBMED   35126937
  REMARK    GeneRIF: TSG Targeting KDM5A Affects Osteogenic Differentiation of
            Bone Mesenchymal Stem Cells Induced by Bone Morphogenetic Protein 2.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 10701)
  AUTHORS   Mao S, Neale GA and Goorha RM.
  TITLE     T-cell oncogene rhombotin-2 interacts with retinoblastoma-binding
            protein 2
  JOURNAL   Oncogene 14 (13), 1531-1539 (1997)
   PUBMED   9129143
REFERENCE   7  (bases 1 to 10701)
  AUTHORS   Baens M, Aerssens J, van Zand K, Van den Berghe H and Marynen P.
  TITLE     Isolation and regional assignment of human chromosome 12p cDNAs
  JOURNAL   Genomics 29 (1), 44-52 (1995)
   PUBMED   8530100
REFERENCE   8  (bases 1 to 10701)
  AUTHORS   Kim YW, Otterson GA, Kratzke RA, Coxon AB and Kaye FJ.
  TITLE     Differential specificity for binding of retinoblastoma binding
            protein 2 to RB, p107, and TATA-binding protein
  JOURNAL   Mol Cell Biol 14 (11), 7256-7264 (1994)
   PUBMED   7935440
REFERENCE   9  (bases 1 to 10701)
  AUTHORS   Fattaey AR, Helin K, Dembski MS, Dyson N, Harlow E, Vuocolo GA,
            Hanobik MG, Haskell KM, Oliff A, Defeo-Jones D et al.
  TITLE     Characterization of the retinoblastoma binding proteins RBP1 and
            RBP2
  JOURNAL   Oncogene 8 (11), 3149-3156 (1993)
   PUBMED   8414517
REFERENCE   10  (bases 1 to 10701)
  AUTHORS   Defeo-Jones D, Huang PS, Jones RE, Haskell KM, Vuocolo GA, Hanobik
            MG, Huber HE and Oliff A.
  TITLE     Cloning of cDNAs for cellular proteins that bind to the
            retinoblastoma gene product
  JOURNAL   Nature 352 (6332), 251-254 (1991)
   PUBMED   1857421
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB209999.1, SRR14038192.821815.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000399788.7/ ENSP00000382688.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU182136.1, DA211439.1,
            AB209999.1 and AC007406.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001042603.2.
            Summary: This gene encodes a member of the Jumonji, AT-rich
            interactive domain 1 (JARID1) histone demethylase protein family.
            The encoded protein plays a role in gene regulation through the
            histone code by specifically demethylating lysine 4 of histone H3.
            The encoded protein interacts with many other proteins, including
            retinoblastoma protein, and is implicated in the transcriptional
            regulation of Hox genes and cytokines. This gene may play a role in
            tumor progression. [provided by RefSeq, Aug 2013].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..10701
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.33"
     gene            1..10701
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="lysine demethylase 5A"
                     /db_xref="GeneID:5927"
                     /db_xref="HGNC:HGNC:9886"
                     /db_xref="MIM:180202"
     misc_feature    161..163
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="upstream in-frame stop codon"
     CDS             230..5302
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /EC_number="1.14.11.67"
                     /note="retinoblastoma binding protein 2; Jumonji, AT rich
                     interactive domain 1A (RBP2-like); lysine (K)-specific
                     demethylase 5A; histone demethylase JARID1A; jumonji/ARID
                     domain-containing protein 1A; [histone
                     H3]-trimethyl-L-lysine(4) demethylase 5A"
                     /codon_start=1
                     /product="lysine-specific demethylase 5A"
                     /protein_id="NP_001036068.1"
                     /db_xref="CCDS:CCDS41736.1"
                     /db_xref="GeneID:5927"
                     /db_xref="HGNC:HGNC:9886"
                     /db_xref="MIM:180202"
                     /translation="MAGVGPGGYAAEFVPPPECPVFEPSWEEFTDPLSFIGRIRPLAEK
                     TGICKIRPPKDWQPPFACEVKSFRFTPRVQRLNELEAMTRVRLDFLDQLAKFWELQGST
                     LKIPVVERKILDLYALSKIVASKGGFEMVTKEKKWSKVGSRLGYLPGKGTGSLLKSHYE
                     RILYPYELFQSGVSLMGVQMPNLDLKEKVEPEVLSTDTQTSPEPGTRMNILPKRTRRVK
                     TQSESGDVSRNTELKKLQIFGAGPKVVGLAMGTKDKEDEVTRRRKVTNRSDAFNMQMRQ
                     RKGTLSVNFVDLYVCMFCGRGNNEDKLLLCDGCDDSYHTFCLIPPLPDVPKGDWRCPKC
                     VAEECSKPREAFGFEQAVREYTLQSFGEMADNFKSDYFNMPVHMVPTELVEKEFWRLVS
                     SIEEDVIVEYGADISSKDFGSGFPVKDGRRKILPEEEEYALSGWNLNNMPVLEQSVLAH
                     INVDISGMKVPWLYVGMCFSSFCWHIEDHWSYSINYLHWGEPKTWYGVPSHAAEQLEEV
                     MRELAPELFESQPDLLHQLVTIMNPNVLMEHGVPVYRTNQCAGEFVVTFPRAYHSGFNQ
                     GYNFAEAVNFCTADWLPIGRQCVNHYRRLRRHCVFSHEELIFKMAADPECLDVGLAAMV
                     CKELTLMTEEETRLRESVVQMGVLMSEEEVFELVPDDERQCSACRTTCFLSALTCSCNP
                     ERLVCLYHPTDLCPCPMQKKCLRYRYPLEDLPSLLYGVKVRAQSYDTWVSRVTEALSAN
                     FNHKKDLIELRVMLEDAEDRKYPENDLFRKLRDAVKEAETCASVAQLLLSKKQKHRQSP
                     DSGRTRTKLTVEELKAFVQQLFSLPCVISQARQVKNLLDDVEEFHERAQEAMMDETPDS
                     SKLQMLIDMGSSLYVELPELPRLKQELQQARWLDEVRLTLSDPQQVTLDVMKKLIDSGV
                     GLAPHHAVEKAMAELQELLTVSERWEEKAKVCLQARPRHSVASLESIVNEAKNIPAFLP
                     NVLSLKEALQKAREWTAKVEAIQSGSNYAYLEQLESLSAKGRPIPVRLEALPQVESQVA
                     AARAWRERTGRTFLKKNSSHTLLQVLSPRTDIGVYGSGKNRRKKVKELIEKEKEKDLDL
                     EPLSDLEEGLEETRDTAMVVAVFKEREQKEIEAMHSLRAANLAKMTMVDRIEEVKFCIC
                     RKTASGFMLQCELCKDWFHNSCVPLPKSSSQKKGSSWQAKEVKFLCPLCMRSRRPRLET
                     ILSLLVSLQKLPVRLPEGEALQCLTERAMSWQDRARQALATDELSSALAKLSVLSQRMV
                     EQAAREKTEKIISAELQKAAANPDLQGHLPSFQQSAFNRVVSSVSSSPRQTMDYDDEET
                     DSDEDIRETYGYDMKDTASVKSSSSLEPNLFCDEEIPIKSEEVVTHMWTAPSFCAEHAY
                     SSASKSCSQGSSTPRKQPRKSPLVPRSLEPPVLELSPGAKAQLEELMMVGDLLEVSLDE
                     TQHIWRILQATHPPSEDRFLHIMEDDSMEEKPLKVKGKDSSEKKRKRKLEKVEQLFGEG
                     KQKSKELKKMDKPRKKKLKLGADKSKELNKLAKKLAKEEERKKKKEKAAAAKVELVKES
                     TEKKREKKVLDIPSKYDWSGAEESDDENAVCAAQNCQRPCKDKVDWVQCDGGCDEWFHQ
                     VCVGVSPEMAENEDYICINCAKKQGPVSPGPAPPPSFIMSYKLPMEDLKETS"
     misc_feature    839..841
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P29375.3); phosphorylation site"
     misc_feature    1484..1498
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P29375.3);
                     Region: GSGFP motif.
                     /evidence=ECO:0000250|UniProtKB:Q3UXZ9"
     misc_feature    3560..3562
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P29375.3); phosphorylation site"
     misc_feature    4208..4273
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P29375.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4217..4219
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P29375.3); phosphorylation site"
     misc_feature    4220..4222
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P29375.3); phosphorylation site"
     misc_feature    4256..4258
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q3UXZ9; propagated from
                     UniProtKB/Swiss-Prot (P29375.3); phosphorylation site"
     misc_feature    4262..4264
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3UXZ9; propagated from
                     UniProtKB/Swiss-Prot (P29375.3); phosphorylation site"
     misc_feature    4448..4528
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P29375.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4541..4543
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P29375.3); phosphorylation site"
     misc_feature    4682..4687
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="Breakpoint for translocation to form the NUP98-KDM5A
                     fusion protein. /evidence=ECO:0000269|PubMed:16419055;
                     propagated from UniProtKB/Swiss-Prot (P29375.3); other
                     site"
     misc_feature    4691..4693
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P29375.3); phosphorylation site"
     misc_feature    4697..4756
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P29375.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4775..4858
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P29375.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    5012..5014
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q3UXZ9; propagated from
                     UniProtKB/Swiss-Prot (P29375.3); phosphorylation site"
     misc_feature    5021..5023
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (P29375.3); phosphorylation site"
     misc_feature    5036..5038
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (P29375.3); phosphorylation site"
     misc_feature    5096..5299
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P29375.3);
                     Region: Interaction with LMO2.
                     /evidence=ECO:0000269|PubMed:9129143"
     misc_feature    5225..5227
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P29375.3); phosphorylation site"
     regulatory      9124..9129
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="hexamer: AATAAA"
     polyA_site      9152
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
     regulatory      9848..9853
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="hexamer: AATAAA"
     polyA_site      9870
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="major polyA site"
     regulatory      10593..10598
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
                     /note="hexamer: AATAAA"
     polyA_site      10620
                     /gene="KDM5A"
                     /gene_synonym="RBBP-2; RBBP2; RBP2"
ORIGIN
        1 gacagcacgg taacttccgg aaaagtcctg aacctcagtg gaaaagcctt gcaagaaaca
       61 ataacaaacg ggaggaggaa gcgattctgg ggtttctgtg ttgaacggtt cttgtccgcg
      121 aagatgcgct tcggcctctg tcaggggact tgaacgggct tagtgggctt cagccagctt
      181 ttctccaccg gttccccacg gggacccccc cccccccccg gccgttgcaa tggcgggcgt
      241 ggggccgggg ggctacgcgg cggagttcgt gccaccgcca gagtgccccg tctttgagcc
      301 gagttgggag gagttcacag atccgctcag ctttatcggc cgcatccggc ctttggcgga
      361 gaaaaccggc atctgcaaaa ttcggccgcc caaggactgg cagcctccat ttgcctgtga
      421 agtaaaaagc tttcgtttca ctccaagagt ccagcgcctg aatgaacttg aggcaatgac
      481 cagagtgaga ttggatttct tggatcaact agcaaaattt tgggaacttc aaggatctac
      541 tctgaagatc cctgtggtag agagaaaaat cctggatctg tatgctttga gcaagattgt
      601 tgccagcaaa ggaggttttg aaatggtcac caaagagaag aaatggtcta aagtgggtag
      661 tcgcttggga tatctgccag gaaaaggaac tgggtctctt ttgaagtcac attatgaaag
      721 aattctctac ccatatgagc ttttccagtc tggtgtgagc cttatgggtg tgcagatgcc
      781 taatttagat cttaaagaaa aagtggagcc tgaggttctc agcactgata cccaaacttc
      841 cccagagcca ggcacaagga tgaacattct gccgaagaga acaagacgtg tgaagactca
      901 gtcagaatct ggagatgtga gtagaaacac ggaactgaag aaacttcaga tttttggggc
      961 tgggcccaag gttgtgggct tggcaatggg aacaaaagat aaagaagatg aggtcacccg
     1021 aagacgaaaa gttaccaaca ggtcagacgc atttaacatg caaatgagac aacggaaagg
     1081 cactctctct gttaactttg ttgatctcta tgtttgtatg ttttgtggtc ggggaaacaa
     1141 tgaagataaa ttgcttttgt gtgatggatg tgatgacagc tatcatacat tttgtctaat
     1201 tcctccacta cctgatgtgc ccaaaggaga ctggaggtgt cctaaatgtg tcgccgagga
     1261 atgtagcaaa cctcgagaag cctttggatt tgaacaagct gtacgagagt atacacttca
     1321 gagctttgga gagatggcag ataattttaa gtctgattat tttaatatgc cagtccatat
     1381 ggttcccaca gaactagtag aaaaggaatt ttggcggctg gtaagcagca ttgaagaaga
     1441 tgttattgtg gaatatggag cagatatctc ctcaaaagac tttggaagtg gatttccggt
     1501 gaaggatggg cggagaaaga ttctgccaga agaagaggaa tatgcacttt ctggttggaa
     1561 tttgaataac atgcctgtcc tggaacagtc tgttcttgca catattaatg tggacatctc
     1621 tggtatgaaa gtgccgtggc tctatgtggg aatgtgcttc tcttcttttt gctggcacat
     1681 tgaggatcac tggagttatt ccatcaacta cttgcactgg ggggagccaa agacatggta
     1741 tggtgtgcca tctcatgctg cagagcaact ggaggaggtg atgagagagc tggcccccga
     1801 gttatttgaa tcccagcctg atcttctgca tcagttagtt accatcatga accccaacgt
     1861 gctaatggag catggtgtgc ctgtgtacag gaccaatcag tgtgctggcg agtttgttgt
     1921 gacatttcct cgtgcctatc actctggatt taaccagggc tacaactttg ctgaagctgt
     1981 gaacttctgt actgctgact ggttgcccat tggacgtcaa tgtgtaaatc attaccgacg
     2041 cctaaggcgc cactgtgtct tttcacacga ggaactaatt ttcaagatgg cagcagatcc
     2101 agaatgctta gatgtggggc tggctgccat ggtctgcaaa gaattgactc tcatgactga
     2161 agaagaaaca cgattaagag agtctgttgt acagatgggt gtcctgatgt cagaagaaga
     2221 agtgtttgaa cttgttcctg atgatgagcg gcagtgttca gcatgcagaa ccacatgttt
     2281 tctctctgct ctcacatgtt cctgtaatcc tgagcggctt gtatgtctct accatccaac
     2341 tgatctgtgc ccctgcccca tgcagaagaa atgtcttaga tatcgctacc cattagaaga
     2401 cctcccttct ctgctatatg gtgtaaaagt cagggcacag tcctatgaca cttgggtcag
     2461 tcgtgttaca gaagcattgt ctgctaactt caaccacaaa aaagatttga ttgaattgcg
     2521 agtaatgctg gaagatgctg aggataggaa atacccagag aatgatctct ttcgaaaact
     2581 cagggatgct gtaaaagaag ctgagacctg tgcttctgtg gctcagctgc ttctgagcaa
     2641 aaagcagaaa cacagacaga gcccagatag tgggaggact cggaccaaac tgacagtgga
     2701 agaattgaag gcctttgtcc aacaactttt tagtcttccg tgtgtcatca gccaagctcg
     2761 gcaagtaaag aatctgctag atgatgtgga agagtttcat gaacgtgctc aggaggccat
     2821 gatggatgaa accccagatt cttccaaact ccagatgttg atagatatgg gctctagtct
     2881 ctatgtggaa ctccctgaat taccacgact gaagcaagag ctacaacagg ctcggtggtt
     2941 ggacgaagta agactgacct tatcagatcc gcaacaagtc actttggatg tcatgaagaa
     3001 gctgatagac tctggggtag ggttggcacc ccaccatgct gtggagaaag caatggctga
     3061 actacaggag ctccttacag tctctgaacg atgggaagaa aaggctaagg tctgcctaca
     3121 ggcaagaccg aggcacagtg tggcaagttt agaaagcatt gtgaatgaag ccaagaacat
     3181 tccagccttt ctacccaatg tgttgtcctt gaaagaagcc ttacaaaagg ctcgagaatg
     3241 gaccgctaaa gtggaagcta ttcagagtgg cagcaattac gcttatttgg agcagcttga
     3301 gagcttgtct gcgaaaggac gccctattcc tgtgcgtctt gaagcactgc cgcaagtgga
     3361 atcacaggta gcagcagcac gggcatggag agaacggact gggcggacgt ttcttaagaa
     3421 gaattctagc catacattgt tacaggtgct gagcccccgg accgacattg gtgtatatgg
     3481 gagtggcaaa aataggagga aaaaagtaaa agaactaata gaaaaagaaa aagaaaagga
     3541 tctggacctg gagcctctga gtgatctgga ggaaggattg gaggaaacca gagatacagc
     3601 catggtggtg gcagttttca aagaacggga gcaaaaagag attgaagcca tgcattctct
     3661 cagagcagcc aacctagcca agatgacaat ggtggaccgc atagaagaag taaaattttg
     3721 catttgccgc aagacagcca gtgggtttat gctacagtgt gagctctgca aagactggtt
     3781 ccataacagc tgtgttcctc ttcctaaatc aagttcccaa aaaaaaggat ccagctggca
     3841 agctaaagaa gtaaaattcc tttgccctct ttgtatgcgg tctcgaaggc ccaggctaga
     3901 gactattctg tcactcctgg tatcccttca gaagttgccc gtacggttgc ctgaaggaga
     3961 ggccctgcag tgtttgacag aacgtgctat gagttggcaa gatagagcgc ggcaggctct
     4021 agccacagat gaactatcct ctgccctggc caaactatct gtgttgagcc agcgtatggt
     4081 ggaacaggcg gctcgagaaa aaactgaaaa gatcatcagt gcagaactcc aaaaagcagc
     4141 tgccaatcca gacttacagg gacacttacc tagtttccag cagtctgctt ttaaccgggt
     4201 ggtgagcagt gtgtcatctt ctcctcgaca aacaatggac tatgatgatg aagaaacaga
     4261 ctctgatgaa gacattcgag agacatatgg ctacgacatg aaggacacag ccagtgtgaa
     4321 gtcctctagt agtcttgaac ccaatctttt ttgtgatgaa gagattccca tcaaatccga
     4381 ggaggtggtg acccacatgt ggacagcacc ttcattttgt gcagagcatg cttattcttc
     4441 tgcttctaag agttgttctc aaggttctag caccccaagg aaacaacctc ggaagagccc
     4501 tttggtgccc cgaagtttgg aacctccagt gctggagttg tcacctggag ctaaggcaca
     4561 actggaagaa cttatgatgg ttggagatct cctggaagta tctctggacg agactcaaca
     4621 catatggcgg attttgcagg ccacacaccc accctctgaa gacagattct tgcatatcat
     4681 ggaggatgac agcatggaag agaaaccact aaaagtgaaa ggaaaggact cttcagagaa
     4741 gaaacggaaa cggaagctag aaaaggtaga gcaacttttt ggagaaggaa aacagaagtc
     4801 caaggagtta aagaaaatgg acaaacctag aaagaagaaa ttaaaattag gtgcagacaa
     4861 atcaaaggag ctgaataaac tggccaagaa actagcaaaa gaagaagaga gaaagaaaaa
     4921 gaaggagaag gctgctgcag ccaaagttga acttgtgaaa gagagcactg aaaagaaaag
     4981 agagaaaaag gtgctggaca tcccctcaaa gtatgactgg tcaggagcag aggagtctga
     5041 tgatgagaat gctgtgtgcg cagcacagaa ctgccaaagg ccctgcaagg acaaggtaga
     5101 ctgggtacaa tgtgatggtg gctgtgatga gtggtttcat caagtttgtg tgggtgtatc
     5161 tccagaaatg gctgaaaatg aagattacat ctgtataaac tgtgcaaaga agcaggggcc
     5221 agttagccca ggtccagcac cacctccttc cttcataatg agctacaaac taccaatgga
     5281 ggatcttaaa gagaccagtt agcagatgct tggttagttt gggacatggg gggacatgga
     5341 ccacattgag accttagtca tcaagtagag tggtttatat ccacttggaa tgttgcttcc
     5401 aaagatgaat ggccttcaga gaaagtcccc ttagtgctgg cttcctcttt gcatggactc
     5461 tgtgggttac attctctatc aacatatcta tgcagagggt gtcttctttg gtacaacagc
     5521 caatatttca tgtctccttt gagtgtggtt tactgcatta aggccagatg cttaattgag
     5581 ctctagggtg gctggttagt attaatacat tggtgtgcta acagggcata taggatgtgg
     5641 cttttgtcca gctgatagta gttagaggct tacaacttag gagcagcacc aactgaaggt
     5701 gctaattgct tggatctcct tcattgggat agttggagag ggattggagt accactttcc
     5761 ttccactgtt acctggtact taatgcccta aagatacaac taggagtaac agggccaaag
     5821 ttatttctgt tagacgtcaa ggaatggtat cacagtctat tgacctcagc gatttgtgct
     5881 tgtttgtgct agaagaacat cccaaatagg agaacctctc acaagctggg gcaggtcacc
     5941 ttatctttgt aagatgagga tatcatctag atcagaaatc tgactagatt ggattctgag
     6001 gagaagaacc tactacaagg caaggagccg ttttttggct ttgaaaagtc ttgctgtctt
     6061 gggtctacat tttagggaag agcaggtaca tggatccagg cttctgccaa aaaaaaaaag
     6121 agaagaagat gacgatgatg accagtcgta ctatcttact gagccacagt gatgcatgct
     6181 tttcggggaa aacttcattc acaagtattc cagacaccag gcttcaggca tggccatgag
     6241 caagaccagc aaataacagc tttttgcctt gcagccctga ccccaatgtc tgctgtttcc
     6301 aacactggtg atttctaact acggcccaca gcagatgctg ttgaataaca ccatggcttc
     6361 atcagaggat gtggggttgt agtacctctg ggtgatgaag ttgttttagt aaatccattt
     6421 ttaaaaaaaa aaaaggactt gtttttactt ttttctaaat gtctctgact actgactgtt
     6481 ctatacatag attatttttc cttttttaat atacatatat gaatatataa atatatatat
     6541 ttactgttac cagcagcata tgacagagtt tcaacatcaa aaatccattt gggggcttgc
     6601 tttttctttt ttgctttaaa aaaaaaaatc ccattccttc tttgtagtac aaggagttag
     6661 cactccctcc tccatcccag cctgaccaga tcttccattt tgcttttgtt catatagata
     6721 attatatgtc ctttgtgtgt tgggacttgt ccctgtctgt tgggaaactt ggtctcactc
     6781 tagtctgtgc tggctctttt ttcttttgtg tgtgaatgtt tgaaactatg gtgctgtgtc
     6841 ctcttccctc ctgttgtgtt ctctgttctt cttaaggtat taggtaagct gtatgtaaac
     6901 tcttattaga aggggactaa ttttttttta aaggacaaaa aaaaaaatga ctaaaaatag
     6961 tgttttgtca tcactgtctg gtgtctttat tttggtttaa aaaaatctgt ggtttgactt
     7021 aaattcatca gttttccttt taaagggggg attggggtgg acctagcaac agcttatagt
     7081 ttcctcttcc ctttttgccc cagtctcttt taaagaactg tcttctagta actagaagtg
     7141 aaatgtactg tccagttaca gtttgagtgg gtatgagatt taactcaaaa ggaatcttac
     7201 aaaaaaaaag atgttttctt ataaaatcca atttctgtaa atgttttctc tgaagttcat
     7261 actacctact ttttattcat tcttaatact gtataacatt ttgagtgttt tgacttgttc
     7321 agaggtttgt tagtgttgct gtgcatatgt cttgaggtct catctgaagt aagtttgtgt
     7381 atgatcgaag atttcaatgg atattgcaag gtaactaatt aactgatttc ataagttttc
     7441 gttttgccaa gctaacgatt atcaattaag aatttcctct ggttgatgtt atacaagaaa
     7501 gcacaatatt ttttgcctgt tgatcttctt tgtaacagtc ttcagatatt tgtgggttaa
     7561 aaattgaatg taattttaag tgacagatgc ctggaataca tttaaaattt ttatttttcc
     7621 ttcctaatca tccattaact attccactat cagtggagag tcatgaggat gctgagaaag
     7681 tatgaatagc ttcctgtcac cttctgacgt tttgaaactt aaatatgtct tttcgttgat
     7741 actgtgggat tttctgtatt tacttgacag tcatggagga tttggtatga cttgaccaca
     7801 ggtttagacc aaggctgaga agaacagaag ggagaaatta atggcaaaac aaaaaataca
     7861 caaatctgcg gttttggaat taatgaaaca agattcatct atttaaagaa atgttggtgt
     7921 tctaatacaa agcattattt tcacttagag aaaattactt acttgctccc ttctgtattg
     7981 taatattttg tattaagaca tgatttaaaa tgtctttcta cccttatctc ctctaaactg
     8041 caactgaagt tgcaattctt catcattagt attttaactc tggcaaaggt tatagaaaga
     8101 aaaatggaaa tatggtaggc ctgtggtatt cttaaaagct aagtcattag aactatgcag
     8161 atccccaagt ttaaaagtac aaatacagca ccagtagtta gctttctagc tgggggagaa
     8221 gacaggagat ttttcttcca cagatgttta ttttgcttcc tgataggtac tgcagcaaag
     8281 ccatgttgat gtgtagatgc atgacttcct cactaagctg ctgcacacca gctttgcctg
     8341 catgattcaa atttgtgcct cagtaaaatt ataaattatt gcatgtcata ccttgaataa
     8401 tggaaacggc aaacattaaa cctgtgatta cccataatgt actttaataa taaaaaacat
     8461 ggcagccagg tgcagtagag tgcacctgtg gtcaggaggc tgaagtggga agattgcttc
     8521 aacctgtgag tttgagtccc gcctggtcaa cagcgagacc ccatgtgtct gtctgtctct
     8581 ctcttttttt aaaggacaga ggctaagctg taaggttagc atggttctgc ctgggctttg
     8641 cttctgtgct tctgtgcagg ctgagctgta aggttagcat ggttctgcct gggctttgct
     8701 tctgcgcttc tgtgcaggct gagctgtaag gttagcatgg ttctgcctgg gctttgcttc
     8761 tgcgcttctg tgcaggctga gctgtaaggt tagcatggtt ctgcctgggc tttgcttctg
     8821 cgcttctgtg ctagcaggtg cccacaaaat gtctttttga atttcttaat ttttgggttc
     8881 tggatgcaat tcgtgcacgc caagaaacta cttgcttgtc agtattttaa ttctgtagta
     8941 catgtgtgtg aatatcagcc agtacttaca gtaggaggat gaacagaaaa actgagaaga
     9001 cctgtctttc aaaagatggg tttatccact ttttaaggga aaaagtgaca gtttggcatg
     9061 ggatttgaaa agtggaaatt gtggaaaaat tgagctgttg aagtcccaca tataaccaga
     9121 tttaataaag cttcacatgt gaattagctc catatgtgtg tagaaggttg cttttatagc
     9181 aggtccttaa gtactccttt tgaaattcct cctttttttt taagtcatac cattacttct
     9241 ttggatatga atgtcccaag tggtatctcc tactgtagta tgaggaagaa tggctgttaa
     9301 tgtatttttt gaattttggt cttgtcttgg cctggatcat atccagtcac cactatgcaa
     9361 caaatgatgt gcactgggca aggatatgat gggttatgaa agctgtatct tgtttgtttt
     9421 ttcttttgca gtactccaag tggtctaaac aggaatgtct tgtaaaacct caagactccc
     9481 tattgattat tcccttacat atttatttac aatttatcag ggtaattggt ggtgccttat
     9541 gaaaagtata actcgatttc ttgatctttg agcatgtttt gtgtttcttg tgttttctaa
     9601 aagaatatta gatatggtta attgcattac atctaaaaga tttaaaaaat tgtgtgtatg
     9661 ctcaggttcc ccacacccat acccacccta acccctgtca tttacattgg tggcaacttt
     9721 aaatggtaac caagcaaaag tacattttga taatgagtat tgataatcct gaggaaaact
     9781 agtgagtata tgggagccac ctttgacctg tgccaaagca gtttctaatt tcatttgcta
     9841 actataaaat aaagaactga gccaaaataa tttgatcagt ggtgtgatta gcctattatc
     9901 attgctgaga atagtgtttt tggagtgtga agtgattcct gaagatttca cctgccttct
     9961 gtttccagca agaatccagt gatgaccaac acatttcctc acttttggtt cttgagaagt
    10021 ttatcccttt gcaacaaacc attaataggg aaaacaagga aatgctttcc ctttctcttt
    10081 ggcttcttaa agctcacaac caattcagac cccaagttac ttcagagaag caaatggcac
    10141 cttttcccca ttgccaagga tcccagctta tgcagatatg aaggacggat catttctgaa
    10201 aatgttaaga ctctgcttgc agtggacttg gcctcagttt catgaaatgt gtaactctgt
    10261 atgtgtatgt taggaggagg gttggttgaa agagcggggg cagggagggg aatctgatta
    10321 cctcttggga aataattttc ttgccaacaa aaagatacac ttgaagtttc ttaaggtggc
    10381 aagtccatta aaaaaaaaaa ttgtgttgga ccctcccagt ttagatcaag tatttcttgg
    10441 gggtcttgct attgtggttg ataccaataa atggaagatc cagaatattt tcatttaaag
    10501 ctcaaccatt aattggaaca tggtgaaaca ttgtacacat tgtaaaagta gggaacagta
    10561 caaaagaatg gaatcaaata ctatattatg tgaataaact agagtgattt tggaatttca
    10621 ctctcttcac cccttctcac ttgtatgttc tgtaaagtgt atttctactt tggtaggaag
    10681 aaagacttga tttaatattt c
//
LOCUS       NM_001042610            2056 bp    mRNA    linear   PRI 26-MAY-2023
DEFINITION  Homo sapiens dysbindin domain containing 1 (DBNDD1), transcript
            variant 1, mRNA.
ACCESSION   NM_001042610
VERSION     NM_001042610.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2056)
  AUTHORS   Wiedemann C, Obika KB, Liebscher S, Jirschitzka J, Ohlenschlager O
            and Bordusa F.
  TITLE     Backbone and side chain resonance assignment of the intrinsically
            disordered human DBNDD1 protein
  JOURNAL   Biomol NMR Assign 16 (2), 237-246 (2022)
   PUBMED   35474152
  REMARK    GeneRIF: Backbone and side chain resonance assignment of the
            intrinsically disordered human DBNDD1 protein.
REFERENCE   2  (bases 1 to 2056)
  AUTHORS   Nan H, Kraft P, Qureshi AA, Guo Q, Chen C, Hankinson SE, Hu FB,
            Thomas G, Hoover RN, Chanock S, Hunter DJ and Han J.
  TITLE     Genome-wide association study of tanning phenotype in a population
            of European ancestry
  JOURNAL   J Invest Dermatol 129 (9), 2250-2257 (2009)
   PUBMED   19340012
REFERENCE   3  (bases 1 to 2056)
  AUTHORS   Locke M, Tinsley CL, Benson MA and Blake DJ.
  TITLE     TRIM32 is an E3 ubiquitin ligase for dysbindin
  JOURNAL   Hum Mol Genet 18 (13), 2344-2358 (2009)
   PUBMED   19349376
  REMARK    GeneRIF: TRIM32 is a widely expressed ubiquitin ligase and binds and
            ubiquitinates dysbindin.
REFERENCE   4  (bases 1 to 2056)
  AUTHORS   Luciano M, Miyajima F, Lind PA, Bates TC, Horan M, Harris SE, Wright
            MJ, Ollier WE, Hayward C, Pendleton N, Gow AJ, Visscher PM, Starr
            JM, Deary IJ, Martin NG and Payton A.
  TITLE     Variation in the dysbindin gene and normal cognitive function in
            three independent population samples
  JOURNAL   Genes Brain Behav 8 (2), 218-227 (2009)
   PUBMED   19077176
  REMARK    GeneRIF: Our results therefore support involvement of the dysbindin
            gene in cognitive function
REFERENCE   5  (bases 1 to 2056)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.728627.1,
            SRR1803616.163482.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000002501.11/ ENSP00000002501.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY166977.1, AK022644.1 and BC000700.2.
            On Jun 2, 2019 this sequence version replaced NM_001042610.2.
            Transcript Variant: This variant (1) differs in its 5' UTR and
            initiates translation at an alternate start codon, compared to
            variant 4. The encoded isoform (1) has  a shorter and distinct
            N-terminus, compared to isoform 4.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2056
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..2056
                     /gene="DBNDD1"
                     /note="dysbindin domain containing 1"
                     /db_xref="GeneID:79007"
                     /db_xref="HGNC:HGNC:28455"
                     /db_xref="MIM:620388"
     CDS             116..592
                     /gene="DBNDD1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dysbindin domain-containing protein 1; dysbindin
                     (dystrobrevin binding protein 1) domain containing 1"
                     /codon_start=1
                     /product="dysbindin domain-containing protein 1 isoform 1"
                     /protein_id="NP_001036075.1"
                     /db_xref="CCDS:CCDS42223.1"
                     /db_xref="GeneID:79007"
                     /db_xref="HGNC:HGNC:28455"
                     /db_xref="MIM:620388"
                     /translation="MEPPEGAGTGEIVKEAEVPQAALGVPAQGTGDNGHTPVEEEVGGI
                     PVPAPGLLQVTERRQPLSSVSSLEVHFDLLDLTELTDMSDQELAEVFADSDDENLNTES
                     PAGLHPLPRAGYLRSPSWTRTRAEQSHEKQPLGDPERQATVLDTFLTVERPQED"
     misc_feature    116..265
                     /gene="DBNDD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9R9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    392..589
                     /gene="DBNDD1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H9R9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    398..400
                     /gene="DBNDD1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9H9R9.2); phosphorylation site"
     misc_feature    470..472
                     /gene="DBNDD1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H9R9.2); phosphorylation site"
     regulatory      2032..2037
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DBNDD1"
                     /note="hexamer: ATTAAA"
     polyA_site      2056
                     /gene="DBNDD1"
                     /note="major polyA site"
ORIGIN
        1 gctgccccga tgcgctgcgc ccggagccgg ggccgagtcg ctgccgcagc tgttggggcg
       61 cccgggccag gcgacgccgc cgtcgcccgt gcccctccca gaccgcaccg gccgcatgga
      121 gcccccggag ggcgccggca ccggagagat cgttaaggag gctgaggtgc cgcaggctgc
      181 gctgggcgtc ccagcccagg ggacagggga caatggccac acgcctgtgg aggaggaggt
      241 cgggggcatc ccagtaccag caccggggct cctgcaggtc acggagagga ggcagcctct
      301 gagcagcgtc tcctctctgg aggtccactt cgacctcctg gacctcactg agctcaccga
      361 catgtcggac caggagctgg ccgaggtctt tgctgactcg gacgacgaga acctcaacac
      421 cgagtcccca gcaggtctgc acccgctgcc ccgggccggc tacctgcgct ccccttcctg
      481 gacgaggaca agggctgagc agagccacga gaagcagccc ctaggcgacc ccgagcggca
      541 ggccacagtc ctggacacgt ttctcactgt ggagaggccc caggaggact agaccatctc
      601 cacctgcccc agctcctgca gggatggggt ccgaacacga tggcagatct gggcagtgct
      661 gacccagcag acacacttca cccgcccacg aggctccagc cgtcacctcc tgacacacac
      721 cctgggggca gctctctgcc agccccgaga ccggccttgt ctgctgggca cgggtcttcg
      781 cctcacttgg agaccagccg gctttcctgg gggacacacg gggcccccgg atgcctctgg
      841 gagccccagc acaagcacag cccagtggcc ttacgtccag ctcgttcctg ggccccgagt
      901 caggaagaca gcgtcacgga gtcactgcca ggaacgtgct gaggaatgga gtggcccacg
      961 gcggccttgg ggtgaagggg acccaggcct gtgacagcca ctccaggaac tcctgggggt
     1021 gctccaacct ccgcgttttc ctgtgctgcc aagctcagaa gccagaggcg ggtttggtag
     1081 tggctaatgg gacaatgtgc tgtccagcaa agcacacatg gagaagcggc cccaaaattc
     1141 ccaccttgat ttccatcctg ccccttcttc tactccacgg aggcgctgtc tcactagggt
     1201 cccctcccca aggctcagct ctaagacctg cacctgcttc tcttggcccc tgcgtgacag
     1261 acaagtccat tccctcctta gctcagaaca ccaaatatca ccagactgcc taagagactt
     1321 gatgacacct cccggaatgc tctcggggtg gggttcacct ctccttgtcc tgcacccact
     1381 gctaggccac attctcgttt ctgctcacat cccattgccc ggctacaagg cctgcccacg
     1441 gcccttaaac ttgctgggca ggtttggagc ccatgggacc ccgtgggtct ctgtccagga
     1501 gcagcagagg aggctgacag gccctgctcc ctctgctctg ggggtgtctg ggagccccag
     1561 ctcacaccct cccaatgctt atatgctgaa gctcacagaa tgggcttctt gcctgacagc
     1621 aagtcaaaga atgagtttaa tatcaaagtg taagcttact ttccatcccc aagccagcct
     1681 gccccctgcc ccatttccca tgagcacact tctggggaag gaaaacaggc tcctggcctt
     1741 cactctcagc agagctttgg agatgcccca ggcatgccct gagctccttc tgtgtacctg
     1801 ctcccacttc tgagccaccc gctgcccctc cgcactgctg gcaaacccag ttcctgcctc
     1861 agccaggtct ccttccctgg tttccagtca cacagagccc agcagctttc tctttcagtc
     1921 ccataagggc agccttgtgt ccctggccac acttccaccc gccagggtct tcctccccat
     1981 ctttccatcc ttcctgctga gcttccacag agctcgtttg caaacagggg gattaaagca
     2041 tcactgcgca ttcgaa
//
LOCUS       NM_001042616            1311 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens phosphatidylinositol glycan anchor biosynthesis class Y
            (PIGY), mRNA.
ACCESSION   NM_001042616
VERSION     NM_001042616.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1311)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1311)
  AUTHORS   Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek
            M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ,
            Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F,
            North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y and
            Clarke NF.
  TITLE     Mutations in PIGY: expanding the phenotype of inherited
            glycosylphosphatidylinositol deficiencies
  JOURNAL   Hum Mol Genet 24 (21), 6146-6159 (2015)
   PUBMED   26293662
REFERENCE   3  (bases 1 to 1311)
  AUTHORS   Lee HJ, Woo HG, Greenwood TA, Kripke DF and Kelsoe JR.
  TITLE     A genome-wide association study of seasonal pattern mania identifies
            NF1A as a possible susceptibility gene for bipolar disorder
  JOURNAL   J Affect Disord 145 (2), 200-207 (2013)
   PUBMED   22925353
REFERENCE   4  (bases 1 to 1311)
  AUTHORS   Hu R, Mukhina GL, Lee SH, Jones RJ, Englund PT, Brown P, Sharkis SJ,
            Buckley JT and Brodsky RA.
  TITLE     Silencing of genes required for glycosylphosphatidylinositol anchor
            biosynthesis in Burkitt lymphoma
  JOURNAL   Exp Hematol 37 (4), 423-434 (2009)
   PUBMED   19302917
REFERENCE   5  (bases 1 to 1311)
  AUTHORS   Murakami Y, Siripanyaphinyo U, Hong Y, Tashima Y, Maeda Y and
            Kinoshita T.
  TITLE     The initial enzyme for glycosylphosphatidylinositol biosynthesis
            requires PIG-Y, a seventh component
  JOURNAL   Mol Biol Cell 16 (11), 5236-5246 (2005)
   PUBMED   16162815
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB206972.1, BC007876.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            bicistronic transcript             :: PMID: 16162815
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match :: ENST00000527353.2/ ENSP00000432688.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI548853.1, AB206972.1 and
            DB519150.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 9, 2020 this sequence version replaced NM_001042616.2.
            Summary: The protein encoded by this gene is part of the
            GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which
            initiates the biosynthesis of glycosylphosphatidylinositol (GPI).
            GPI is synthesized in the endoplasmic reticulum and serves as an
            anchor for many surface proteins. Proteins containing GPI anchors
            can have an important role in cell-cell interactions. The
            transcript for this gene is bicistronic. The downstream open
            reading frame encodes this GPI-GnT complex protein, while the
            upstream open reading frame encodes a protein with unknown
            function, as represented by GeneID:100996939. [provided by RefSeq,
            Aug 2012].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1311
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q22.1"
     gene            1..1311
                     /gene="PIGY"
                     /gene_synonym="HPMRS6; PIG-Y"
                     /note="phosphatidylinositol glycan anchor biosynthesis
                     class Y"
                     /db_xref="GeneID:84992"
                     /db_xref="HGNC:HGNC:28213"
                     /db_xref="MIM:610662"
     misc_feature    484..486
                     /gene="PIGY"
                     /gene_synonym="HPMRS6; PIG-Y"
                     /note="upstream in-frame stop codon"
     CDS             520..735
                     /gene="PIGY"
                     /gene_synonym="HPMRS6; PIG-Y"
                     /note="phosphatidylinositol-glycan biosynthesis class Y
                     protein"
                     /codon_start=1
                     /product="phosphatidylinositol
                     N-acetylglucosaminyltransferase subunit Y"
                     /protein_id="NP_001036081.1"
                     /db_xref="CCDS:CCDS54778.1"
                     /db_xref="GeneID:84992"
                     /db_xref="HGNC:HGNC:28213"
                     /db_xref="MIM:610662"
                     /translation="MFLSLPTLTVLIPLVSLAGLFYSASVEENFPQGCTSTASLCFYSL
                     LLPITIPVYVFFHLWTWMGIKLFRHN"
     misc_feature    529..597
                     /gene="PIGY"
                     /gene_synonym="HPMRS6; PIG-Y"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3MUY2.1);
                     transmembrane region"
     misc_feature    652..714
                     /gene="PIGY"
                     /gene_synonym="HPMRS6; PIG-Y"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3MUY2.1);
                     transmembrane region"
     regulatory      1277..1282
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGY"
                     /gene_synonym="HPMRS6; PIG-Y"
                     /note="hexamer: AATAAA"
     polyA_site      1311
                     /gene="PIGY"
                     /gene_synonym="HPMRS6; PIG-Y"
                     /note="major polyA site"
ORIGIN
        1 ctggacgaac gggaagccgg gagctcggcc acgggtggcg aggctgcggt gaggcctggt
       61 ctccggctgc cagaccatgc tgagtggagc acgctgcagg ctcgcctcag cgctgcgggg
      121 aacgcgcgcg ccgccgtccg cggtcgcccg taggtgcctg cacgcgtcgg ggtcgcggcc
      181 tttggccgac cggggcaaga agactgagga gccgccccgc gacttcgatc cggcgctgct
      241 ggagttcctg gtgtgcccgc tctccaagaa gccgctcaga tatgaagcat caacaaacga
      301 attgattaat gaagagttgg gaatagctta tccaatcatt gatgggatcc ctaatatgat
      361 accacaggca gctaggatga cacgtcaaag taagaagcaa gaagaagtgg agcagcgcta
      421 gttcataatt taaaaaaatt aaaaaaacgc aacagccaac ttttcttaat accatatacc
      481 ttttaaaaca cagtggcagg taataagtgg aagagaagaa tgtttctgtc tcttcctacg
      541 ttgactgttc ttattccact ggtttcttta gcaggactgt tctactcagc ctctgtggaa
      601 gaaaacttcc cacagggctg cactagcaca gccagccttt gcttttacag cctgctcttg
      661 cctattacca taccagtgta tgtattcttc cacctttgga cttggatggg tattaaactc
      721 ttcaggcata attgatgcaa ctagagtcaa tatgctgtat atattaatga tagctcttgg
      781 gcatcgatct ctgaaagctc aaatggatgg aatttagttt gcgggaaaga ggctttgctt
      841 tgcgcatatc aggcttagga ctgtgggagg cttaagttgc agatgcttct tttattgtac
      901 tcttgttctg cccttgtttt ttgaaggctc tgacttataa ctgctgtatc agaagaaaca
      961 ttttgacagt gtcttggttg gagatgaaca tccctaattg acatgtgatg actatttctt
     1021 attccattca tctaagagtc attgaaattt tgttttgctt gtttgtttag cttcaaggtc
     1081 tttggtaaag tcacatgtta aggatgactg aaataattcc aaaggagtga tgttggaata
     1141 gtccctctaa gggagagaaa tgcatttgaa cgaatgtgat ataaaaccac ataatcaaat
     1201 agaaacttca tgtacttaca aaaactgagt ttgtaaaatt accttcattt ctttgacatt
     1261 aaatgcttat attagcaata aacatgttga cactttccta taaaaaataa a
//
LOCUS       NM_001042618            1827 bp    mRNA    linear   PRI 21-AUG-2023
DEFINITION  Homo sapiens poly(ADP-ribose) polymerase 2 (PARP2), transcript
            variant 2, mRNA.
ACCESSION   NM_001042618
VERSION     NM_001042618.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1827)
  AUTHORS   Bilkis R, Lake RJ, Cooper KL, Tomkinson A and Fan HY.
  TITLE     The CSB chromatin remodeler regulates PARP1- and PARP2-mediated
            single-strand break repair at actively transcribed DNA regions
  JOURNAL   Nucleic Acids Res 51 (14), 7342-7356 (2023)
   PUBMED   37326017
  REMARK    GeneRIF: The CSB chromatin remodeler regulates PARP1- and
            PARP2-mediated single-strand break repair at actively transcribed
            DNA regions.
REFERENCE   2  (bases 1 to 1827)
  AUTHORS   Antal D, Por A, Kovacs I, Dull K, Poliska S, Ujlaki G, Demeny MA,
            Szollosi AG, Kiss B, Szegedi A, Bai P and Szanto M.
  TITLE     PARP2 promotes inflammation in psoriasis by modulating estradiol
            biosynthesis in keratinocytes
  JOURNAL   J Mol Med (Berl) 101 (8), 987-999 (2023)
   PUBMED   37351597
  REMARK    GeneRIF: PARP2 promotes inflammation in psoriasis by modulating
            estradiol biosynthesis in keratinocytes.
REFERENCE   3  (bases 1 to 1827)
  AUTHORS   Bell NAW and Molloy JE.
  TITLE     Single-molecule force spectroscopy reveals binding and bridging
            dynamics of PARP1 and PARP2 at DNA double-strand breaks
  JOURNAL   Proc Natl Acad Sci U S A 120 (22), e2214209120 (2023)
   PUBMED   37216533
  REMARK    GeneRIF: Single-molecule force spectroscopy reveals binding and
            bridging dynamics of PARP1 and PARP2 at DNA double-strand breaks.
REFERENCE   4  (bases 1 to 1827)
  AUTHORS   Ma L, Jiang Y and Wu N.
  TITLE     Long non-coding RNA CCL2 promoted gastric cancer function via
            miR-128/ PARP2 signal pathway
  JOURNAL   Bioengineered 13 (1), 1602-1611 (2022)
   PUBMED   35000531
  REMARK    GeneRIF: Long non-coding RNA CCL2 promoted gastric cancer function
            via miR-128/ PARP2 signal pathway.
REFERENCE   5  (bases 1 to 1827)
  AUTHORS   Langelier MF, Billur R, Sverzhinsky A, Black BE and Pascal JM.
  TITLE     HPF1 dynamically controls the PARP1/2 balance between initiating and
            elongating ADP-ribose modifications
  JOURNAL   Nat Commun 12 (1), 6675 (2021)
   PUBMED   34795260
  REMARK    GeneRIF: HPF1 dynamically controls the PARP1/2 balance between
            initiating and elongating ADP-ribose modifications. Publication
            Status: Online-Only
REFERENCE   6  (bases 1 to 1827)
  AUTHORS   Still IH, Vince P and Cowell JK.
  TITLE     Identification of a novel gene (ADPRTL1) encoding a potential
            Poly(ADP-ribosyl)transferase protein
  JOURNAL   Genomics 62 (3), 533-536 (1999)
   PUBMED   10644454
REFERENCE   7  (bases 1 to 1827)
  AUTHORS   Ame JC, Rolli V, Schreiber V, Niedergang C, Apiou F, Decker P,
            Muller S, Hoger T, Menissier-de Murcia J and de Murcia G.
  TITLE     PARP-2, A novel mammalian DNA damage-dependent poly(ADP-ribose)
            polymerase
  JOURNAL   J Biol Chem 274 (25), 17860-17868 (1999)
   PUBMED   10364231
REFERENCE   8  (bases 1 to 1827)
  AUTHORS   Johansson M.
  TITLE     A human poly(ADP-ribose) polymerase gene family (ADPRTL): cDNA
            cloning of two novel poly(ADP-ribose) polymerase homologues
  JOURNAL   Genomics 57 (3), 442-445 (1999)
   PUBMED   10329013
REFERENCE   9  (bases 1 to 1827)
  AUTHORS   Berghammer H, Ebner M, Marksteiner R and Auer B.
  TITLE     pADPRT-2: a novel mammalian polymerizing(ADP-ribosyl)transferase
            gene related to truncated pADPRT homologues in plants and
            Caenorhabditis elegans
  JOURNAL   FEBS Lett 449 (2-3), 259-263 (1999)
   PUBMED   10338144
REFERENCE   10  (bases 1 to 1827)
  AUTHORS   Bashford,C.L., Chance,B., Lloyd,D. and Poole,R.K.
  TITLE     Oscillations of redox states in synchronously dividing cultures of
            Acanthamoeba castellanii and Schizosaccharomyces pombe
  JOURNAL   Biophys J 29 (1), 1-11 (1980)
   PUBMED   7260241
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK290079.1, AJ236912.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000429687.8/ ENSP00000392972.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA354586.1, AJ236912.1 and
            BU541261.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 21, 2020 this sequence version replaced NM_001042618.1.
            Summary: This gene encodes poly(ADP-ribosyl)transferase-like 2
            protein, which contains a catalytic domain and is capable of
            catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a
            catalytic domain which is homologous to that of poly (ADP-ribosyl)
            transferase, but lacks an N-terminal DNA binding domain which
            activates the C-terminal catalytic domain of poly (ADP-ribosyl)
            transferase. The basic residues within the N-terminal region of
            this protein may bear potential DNA-binding properties, and may be
            involved in the nuclear and/or nucleolar targeting of the protein.
            Two alternatively spliced transcript variants encoding distinct
            isoforms have been found. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) lacks an internal segment in
            the 5' coding region, as compared to variant 1. The reading frame
            is not changed but the transcript encodes 13 aa less than variant
            1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1827
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1827
                     /gene="PARP2"
                     /gene_synonym="ADPRT2; ADPRTL2; ADPRTL3; ARTD2; pADPRT-2;
                     PARP-2"
                     /note="poly(ADP-ribose) polymerase 2"
                     /db_xref="GeneID:10038"
                     /db_xref="HGNC:HGNC:272"
                     /db_xref="MIM:607725"
     CDS             8..1720
                     /gene="PARP2"
                     /gene_synonym="ADPRT2; ADPRTL2; ADPRTL3; ARTD2; pADPRT-2;
                     PARP-2"
                     /EC_number="2.4.2.30"
                     /note="isoform 2 is encoded by transcript variant 2; poly
                     (ADP-ribose) polymerase family, member 2;
                     ADP-ribosyltransferase (NAD+; poly(ADP-ribose)
                     polymerase)-like 2; poly (ADP-ribosyl) transferase-like 2;
                     ADPRT-2; hPARP-2; poly[ADP-ribose] synthetase 2; NAD(+)
                     ADP-ribosyltransferase 2; poly[ADP-ribose] synthase 2;
                     ADP-ribosyltransferase diphtheria toxin-like 2; DNA
                     ADP-ribosyltransferase PARP2; protein
                     poly-ADP-ribosyltransferase PARP2"
                     /codon_start=1
                     /product="poly [ADP-ribose] polymerase 2 isoform 2"
                     /protein_id="NP_001036083.1"
                     /db_xref="CCDS:CCDS45077.1"
                     /db_xref="GeneID:10038"
                     /db_xref="HGNC:HGNC:272"
                     /db_xref="MIM:607725"
                     /translation="MAARRRRSTGGGRARALNESKRVNNGNTAPEDSSPAKKTRRCQRQ
                     ESKKMPVAGGKANKDRTEDKQDESVKALLLKGKAPVDPECTAKVGKAHVYCEGNDVYDV
                     MLNQTNLQFNNNKYYLIQLLEDDAQRNFSVWMRWGRVGKMGQHSLVACSGNLNKAKEIF
                     QKKFLDKTKNNWEDREKFEKVPGKYDMLQMDYATNTQDEEETKKEESLKSPLKPESQLD
                     LRVQELIKLICNVQAMEEMMMEMKYNTKKAPLGKLTVAQIKAGYQSLKKIEDCIRAGQH
                     GRALMEACNEFYTRIPHDFGLRTPPLIRTQKELSEKIQLLEALGDIEIAIKLVKTELQS
                     PEHPLDQHYRNLHCALRPLDHESYEFKVISQYLQSTHAPTHSDYTMTLLDLFEVEKDGE
                     KEAFREDLHNRMLLWHGSRMSNWVGILSHGLRIAPPEAPITGYMFGKGIYFADMSSKSA
                     NYCFASRLKNTGLLLLSEVALGQCNELLEANPKAEGLLQGKHSTKGLGKMAPSSAHFVT
                     LNGSTVPLGPASDTGILNPDGYTLNYNEYIVYNPNQVRMRYLLKVQFNFLQLW"
     regulatory      1807..1812
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PARP2"
                     /gene_synonym="ADPRT2; ADPRTL2; ADPRTL3; ARTD2; pADPRT-2;
                     PARP-2"
                     /note="hexamer: AATAAA"
     polyA_site      1827
                     /gene="PARP2"
                     /gene_synonym="ADPRT2; ADPRTL2; ADPRTL3; ARTD2; pADPRT-2;
                     PARP-2"
                     /note="major polyA site"
ORIGIN
        1 gaattccatg gcggcgcggc ggcgacggag caccggcggc ggcagggcga gagcattaaa
       61 tgaaagcaaa agagttaata atggcaacac ggctccagaa gactcttccc ctgccaagaa
      121 aactcgtaga tgccagagac aggagtcgaa aaagatgcct gtggctggag gaaaagctaa
      181 taaggacagg acagaagaca agcaagatga atctgtgaag gccttgctgt taaagggcaa
      241 agctcctgtg gacccagagt gtacagccaa ggtggggaag gctcatgtgt attgtgaagg
      301 aaatgatgtc tatgatgtca tgctaaatca gaccaatctc cagttcaaca acaacaagta
      361 ctatctgatt cagctattag aagatgatgc ccagaggaac ttcagtgttt ggatgagatg
      421 gggccgagtt gggaaaatgg gacagcacag cctggtggct tgttcaggca atctcaacaa
      481 ggccaaggaa atctttcaga agaaattcct tgacaaaacg aaaaacaatt gggaagatcg
      541 agaaaagttt gagaaggtgc ctggaaaata tgatatgcta cagatggact atgccaccaa
      601 tactcaggat gaagaggaaa caaagaaaga ggaatctctt aaatctccct tgaagccaga
      661 gtcacagcta gatcttcggg tacaggagtt aataaagttg atctgtaatg ttcaggccat
      721 ggaagaaatg atgatggaaa tgaagtataa taccaagaaa gccccacttg ggaagctgac
      781 agtggcacaa atcaaggcag gttaccagtc tcttaagaag attgaggatt gtattcgggc
      841 tggccagcat ggacgagctc tcatggaagc atgcaatgaa ttctacacca ggattccgca
      901 tgactttgga ctccgtactc ctccactaat ccggacacag aaggaactgt cagaaaaaat
      961 acaattacta gaggctttgg gagacattga aattgctatt aagctggtga aaacagagct
     1021 acaaagccca gaacacccat tggaccaaca ctatagaaac ctacattgtg ccttgcgccc
     1081 ccttgaccat gaaagttatg agttcaaagt gatttcccag tacctacaat ctacccatgc
     1141 tcccacacac agcgactata ccatgacctt gctggatttg tttgaagtgg agaaggatgg
     1201 tgagaaagaa gccttcagag aggaccttca taacaggatg cttctatggc atggttccag
     1261 gatgagtaac tgggtgggaa tcttgagcca tgggcttcga attgccccac ctgaagctcc
     1321 catcacaggt tacatgtttg ggaaaggaat ctactttgct gacatgtctt ccaagagtgc
     1381 caattactgc tttgcctctc gcctaaagaa tacaggactg ctgctcttat cagaggtagc
     1441 tctaggtcag tgtaatgaac tactagaggc caatcctaag gccgaaggat tgcttcaagg
     1501 taaacatagc accaaggggc tgggcaagat ggctcccagt tctgcccact tcgtcaccct
     1561 gaatgggagt acagtgccat taggaccagc aagtgacaca ggaattctga atccagatgg
     1621 ttataccctc aactacaatg aatatattgt atataacccc aaccaggtcc gtatgcggta
     1681 ccttttaaag gttcagttta atttccttca gctgtggtga atgttgatat taaataaacc
     1741 agagatctga tcttcaagca agaaaataag cagtgttgta cttgtgaatt ttgtgatatt
     1801 ttatgtaata aaaactgtac aggtcta
//
LOCUS       NM_001042625             966 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens calcyphosine like (CAPSL), transcript variant 2, mRNA.
ACCESSION   NM_001042625
VERSION     NM_001042625.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 966)
  AUTHORS   Lindner A, Marbach F, Tschernitz S, Ortner C, Berneburg M, Felthaus
            O, Prantl L, Kye MJ, Rappl G, Altmuller J, Thiele H, Schreml S and
            Schreml J.
  TITLE     Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric
            Lipomatosis and is involved in Adipogenesis
  JOURNAL   Sci Rep 9 (1), 8444 (2019)
   PUBMED   31186450
  REMARK    GeneRIF: Calcyphosine-like (CAPSL) is regulated in Multiple
            Symmetric Lipomatosis and is involved in Adipogenesis. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 966)
  AUTHORS   Santiago JL, Alizadeh BZ, Martinez A, Espino L, de la Calle H,
            Fernandez-Arquero M, Figueredo MA, de la Concha EG, Roep BO,
            Koeleman BP and Urcelay E.
  TITLE     Study of the association between the CAPSL-IL7R locus and type 1
            diabetes
  JOURNAL   Diabetologia 51 (9), 1653-1658 (2008)
   PUBMED   18563381
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 966)
  AUTHORS   Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, Bailey
            R, Nejentsev S, Field SF, Payne F, Lowe CE, Szeszko JS, Hafler JP,
            Zeitels L, Yang JH, Vella A, Nutland S, Stevens HE, Schuilenburg H,
            Coleman G, Maisuria M, Meadows W, Smink LJ, Healy B, Burren OS, Lam
            AA, Ovington NR, Allen J, Adlem E, Leung HT, Wallace C, Howson JM,
            Guja C, Ionescu-Tirgoviste C, Simmonds MJ, Heward JM, Gough SC,
            Dunger DB, Wicker LS and Clayton DG.
  CONSRTM   Genetics of Type 1 Diabetes in Finland; Wellcome Trust Case Control
            Consortium
  TITLE     Robust associations of four new chromosome regions from genome-wide
            analyses of type 1 diabetes
  JOURNAL   Nat Genet 39 (7), 857-864 (2007)
   PUBMED   17554260
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.263451.1,
            SRR5189652.103475.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148093,
            SAMEA2158188 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000651391.1/ ENSP00000498465.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            W25222.1, CD687387.1, BM975803.1 and AC112204.2.
            On Nov 23, 2018 this sequence version replaced NM_001042625.1.
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Both variants 1 and 2 encode the same
            protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..966
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     gene            1..966
                     /gene="CAPSL"
                     /note="calcyphosine like"
                     /db_xref="GeneID:133690"
                     /db_xref="HGNC:HGNC:28375"
                     /db_xref="MIM:618799"
     misc_feature    38..40
                     /gene="CAPSL"
                     /note="upstream in-frame stop codon"
     CDS             83..709
                     /gene="CAPSL"
                     /codon_start=1
                     /product="calcyphosin-like protein"
                     /protein_id="NP_001036090.1"
                     /db_xref="CCDS:CCDS3912.2"
                     /db_xref="GeneID:133690"
                     /db_xref="HGNC:HGNC:28375"
                     /db_xref="MIM:618799"
                     /translation="MAGTARHDREMAIQAKKKLTTATDPIERLRLQCLARGSAGIKGLG
                     RVFRIMDDDNNRTLDFKEFMKGLNDYAVVMEKEEVEELFRRFDKDGNGTIDFNEFLLTL
                     RPPMSRARKEVIMQAFRKLDKTGDGVITIEDLREVYNAKHHPKYQNGEWSEEQVFRKFL
                     DNFDSPYDKDGLVTPEEFMNYYAGVSASIDTDVYFIIMMRTAWKL"
     regulatory      865..870
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPSL"
                     /note="hexamer: AATAAA"
     polyA_site      893
                     /gene="CAPSL"
                     /note="major polyA site"
     regulatory      940..945
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPSL"
                     /note="hexamer: AATAAA"
     polyA_site      966
                     /gene="CAPSL"
ORIGIN
        1 agggaccagt tttcctagat gcaggagaca gcgtccatag tttcagttcg aagcaactgg
       61 tggcaaaagg ttagcattta agatggcagg gacagcgcgc catgaccgag agatggcgat
      121 ccaggccaag aaaaagctca ccacggccac cgaccccatt gaaagactcc gactgcagtg
      181 cctggccagg ggctctgctg ggatcaaagg acttggcaga gtgtttagaa ttatggatga
      241 cgataataat cgaacccttg attttaaaga atttatgaaa gggttaaatg attatgctgt
      301 ggtcatggaa aaagaagagg tggaagaact tttccggagg tttgataaag atggaaatgg
      361 aacaatagac ttcaatgaat ttcttctcac attaagacct ccaatgtcca gagccagaaa
      421 agaggtaatc atgcaagctt ttagaaagtt agacaagact ggagatggtg ttataacaat
      481 cgaagacctt cgtgaagtat ataatgcaaa acaccaccca aagtaccaga atggggaatg
      541 gagtgaggaa caagtattta ggaaatttct ggataacttt gattcaccct atgacaaaga
      601 tggattggtg acccctgagg agttcatgaa ctactatgca ggtgtgagcg catccattga
      661 cactgatgtg tacttcatca tcatgatgag aaccgcctgg aagctttaag cacatgacct
      721 ggggaccagg ccctgggaca gccatgtggc tccaaatgac taaatgtcag ctcaaaaacc
      781 agaatcgtat ttgatttcac actcatccta atgttttttt ctgtgtcaaa atattgcatt
      841 ttctggggcc aaaaaacagg cagaaataaa agacattgag tagccaactg tgagtttgcc
      901 ttgcctaaga ctgtttcctt tgttctaaaa taggacttaa ataaaatgag ctctgtaaag
      961 ctccta
//
LOCUS       NM_001042631            1125 bp    mRNA    linear   PRI 30-DEC-2022
DEFINITION  Homo sapiens succinate dehydrogenase complex assembly factor 1
            (SDHAF1), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001042631
VERSION     NM_001042631.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1125)
  AUTHORS   Cheng W, Liu F, Ren Z, Chen W, Chen Y, Liu T, Ma Y, Cao N and Wang
            J.
  TITLE     Parallel functional assessment of m6A sites in human endodermal
            differentiation with base editor screens
  JOURNAL   Nat Commun 13 (1), 478 (2022)
   PUBMED   35078991
  REMARK    GeneRIF: Parallel functional assessment of m(6)A sites in human
            endodermal differentiation with base editor screens. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1125)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1125)
  AUTHORS   Maio N, Kim KS, Singh A and Rouault TA.
  TITLE     A Single Adaptable Cochaperone-Scaffold Complex Delivers Nascent
            Iron-Sulfur Clusters to Mammalian Respiratory Chain Complexes I-III
  JOURNAL   Cell Metab 25 (4), 945-953 (2017)
   PUBMED   28380382
REFERENCE   4  (bases 1 to 1125)
  AUTHORS   Maio N, Ghezzi D, Verrigni D, Rizza T, Bertini E, Martinelli D,
            Zeviani M, Singh A, Carrozzo R and Rouault TA.
  TITLE     Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to
            SDHB
  JOURNAL   Cell Metab 23 (2), 292-302 (2016)
   PUBMED   26749241
  REMARK    GeneRIF: that SDHAF1 contributes to iron-sulfur (Fe-S) cluster
            incorporation into the Fe-S subunit of CII, SDHB.
REFERENCE   5  (bases 1 to 1125)
  AUTHORS   Maio N, Singh A, Uhrigshardt H, Saxena N, Tong WH and Rouault TA.
  TITLE     Cochaperone binding to LYR motifs confers specificity of iron sulfur
            cluster delivery
  JOURNAL   Cell Metab 19 (3), 445-457 (2014)
   PUBMED   24606901
REFERENCE   6  (bases 1 to 1125)
  AUTHORS   Hoekstra AS and Bayley JP.
  TITLE     The role of complex II in disease
  JOURNAL   Biochim Biophys Acta 1827 (5), 543-551 (2013)
   PUBMED   23174333
  REMARK    GeneRIF: Studies indicate that an array of tumor syndromes caused by
            complex II-associated mutations in genes SDHA, SDHB, SDHC, SDHD,
            SDHAF1 and SDHAF2 have been identified over a decade. Review article
REFERENCE   7  (bases 1 to 1125)
  AUTHORS   Ohlenbusch A, Edvardson S, Skorpen J, Bjornstad A, Saada A, Elpeleg
            O, Gartner J and Brockmann K.
  TITLE     Leukoencephalopathy with accumulated succinate is indicative of
            SDHAF1 related complex II deficiency
  JOURNAL   Orphanet J Rare Dis 7, 69 (2012)
   PUBMED   22995659
  REMARK    GeneRIF: Leukoencephalopathy with accumulated succinate is a key
            symptom of defective complex II assembly due to SDHAF1 mutations
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1125)
  AUTHORS   Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Lochmuller H,
            D'Adamo P, Gasparini P, Strom TM, Prokisch H, Invernizzi F, Ferrero
            I and Zeviani M.
  TITLE     SDHAF1, encoding a LYR complex-II specific assembly factor, is
            mutated in SDH-defective infantile leukoencephalopathy
  JOURNAL   Nat Genet 41 (6), 654-656 (2009)
   PUBMED   19465911
REFERENCE   9  (bases 1 to 1125)
  AUTHORS   Hoffmann TW, Halimi JM, Buchler M, Velge-Roussel F, Al-Najjar A,
            Marliere JF, Lebranchu Y and Baron C.
  TITLE     Impact of a polymorphism in the IL-12p40 gene on the outcome of
            kidney transplantation
  JOURNAL   Transplant Proc 41 (2), 654-656 (2009)
   PUBMED   19328947
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC007205.1, DA677600.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000378887.4/ ENSP00000368165.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM695501.1, BC007205.1 and
            AF038458.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 25, 2020 this sequence version replaced NM_001042631.2.
            Summary: The succinate dehydrogenase (SDH) complex (or complex II)
            of the mitochondrial respiratory chain is composed of 4 individual
            subunits. The protein encoded by this gene resides in the
            mitochondria, and is essential for SDH assembly, but does not
            physically associate with the complex in vivo. Mutations in this
            gene are associated with SDH-defective infantile
            leukoencephalopathy (mitochondrial complex II deficiency).[provided
            by RefSeq, Mar 2010].
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1125
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..1125
                     /gene="SDHAF1"
                     /gene_synonym="LYRM8; MC2DN2"
                     /note="succinate dehydrogenase complex assembly factor 1"
                     /db_xref="GeneID:644096"
                     /db_xref="HGNC:HGNC:33867"
                     /db_xref="MIM:612848"
     CDS             88..435
                     /gene="SDHAF1"
                     /gene_synonym="LYRM8; MC2DN2"
                     /note="LYR motif-containing protein 8; SDH assembly factor
                     1; LYR motif containing 8"
                     /codon_start=1
                     /product="succinate dehydrogenase assembly factor 1,
                     mitochondrial"
                     /protein_id="NP_001036096.2"
                     /db_xref="CCDS:CCDS32999.1"
                     /db_xref="GeneID:644096"
                     /db_xref="HGNC:HGNC:33867"
                     /db_xref="MIM:612848"
                     /translation="MSRHSRLQRQVLSLYRDLLRAGRGKPGAEARVRAEFRQHAGLPRS
                     DVLRIEYLYRRGRRQLQLLRSGHATAMGAFVRPRAPTGEPGGVGCQPDDGDSPRNPHDS
                     TGAPETRPDGR"
     misc_feature    127..135
                     /gene="SDHAF1"
                     /gene_synonym="LYRM8; MC2DN2"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NFY7.1);
                     Region: LYR motif 1, required for interaction with HSC20.
                     /evidence=ECO:0000269|PubMed:26749241"
     misc_feature    244..282
                     /gene="SDHAF1"
                     /gene_synonym="LYRM8; MC2DN2"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NFY7.1);
                     Region: Interaction with SDHB.
                     /evidence=ECO:0000269|PubMed:26749241"
     misc_feature    244..252
                     /gene="SDHAF1"
                     /gene_synonym="LYRM8; MC2DN2"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NFY7.1);
                     Region: LYR motif 2, not required for interaction with
                     HSC20. /evidence=ECO:0000269|PubMed:26749241"
     misc_feature    307..432
                     /gene="SDHAF1"
                     /gene_synonym="LYRM8; MC2DN2"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NFY7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1104..1109
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDHAF1"
                     /gene_synonym="LYRM8; MC2DN2"
                     /note="hexamer: AATAAA"
     polyA_site      1125
                     /gene="SDHAF1"
                     /gene_synonym="LYRM8; MC2DN2"
                     /note="major polyA site"
ORIGIN
        1 gtggctttgc cctttggcct ttgctggctg tgtggcggct ccgcggttcg caggtcgttc
       61 gctgagcgtc tctgcttagc cgcggtcatg agccggcaca gccggctgca gaggcaggtt
      121 ctgagcctgt accgcgatct gctgcgcgcc gggcgtggga agccgggcgc cgaggcgcga
      181 gtgcgggcag agttccggca gcatgcgggc ctgccgcggt ccgacgtgct gcgcatcgag
      241 tacctgtacc gccgcgggcg gcgccagctg cagctgctac gctcgggcca cgccaccgcc
      301 atgggcgcct tcgtacgccc gcgggccccg accggggagc ctggcggcgt gggttgccag
      361 cctgacgacg gcgacagtcc aaggaacccc cacgacagca cgggggcacc ggagacccgc
      421 cccgacggac ggtgacaggc gaagagccga actcgctcga tggcgtggtg gagccaggag
      481 gctcgcctga ctgcatgggg ggactgggga acccgcctaa ggtgagaggt cttaagagac
      541 tagcttgacg aattggggat gtcagagact cctccttggc gacgcagggg gcctagagag
      601 ccccgtgatg gacggcaagg gaggcccgcc ttttccgatg cttggagaca ggtcggtgct
      661 cctcccccat gagggcttgg ggcggcctgg gacgctggcg ggctggacag tgtcaagcca
      721 agagctactt gcccgaaggt acggggagcc aggacgaccc ccggtggaca gggagagcct
      781 gagacgccct tctcttgacc cctgagaaca tacccacttc tggctcctca aggagtctcc
      841 cctctcctgt atttaactct gagaagtgca gactttttgc tgagaacgtt ttgggaaggt
      901 gccctgatga gcggtgagaa gcccggaatc cccttctgga aaactttccc ccattaattg
      961 tgacaagcca ggaccatgag gaaggggtag gggtctatca ccctggttga tcaactgaag
     1021 acccccaaag gcccctactt gatggttttg aggggcaaca ttgactcatt tgccccttcc
     1081 ctctcggaat gttggacaaa gggaataaaa ttggggatat gtcta
//
LOCUS       NM_001042635            1108 bp    mRNA    linear   PRI 05-APR-2023
DEFINITION  Homo sapiens neuroguidin (NGDN), transcript variant 1, mRNA.
ACCESSION   NM_001042635
VERSION     NM_001042635.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1108)
  AUTHORS   Singh S, Vanden Broeck A, Miller L, Chaker-Margot M and Klinge S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   2  (bases 1 to 1108)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1108)
  AUTHORS   Fasci D, van Ingen H, Scheltema RA and Heck AJR.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   4  (bases 1 to 1108)
  AUTHORS   Scaturro P, Stukalov A, Haas DA, Cortese M, Draganova K, Plaszczyca
            A, Bartenschlager R, Gotz M and Pichlmair A.
  TITLE     An orthogonal proteomic survey uncovers novel Zika virus host
            factors
  JOURNAL   Nature 561 (7722), 253-257 (2018)
   PUBMED   30177828
REFERENCE   5  (bases 1 to 1108)
  AUTHORS   Chen K, Lu S, Cheng H, Tang G, Liu M, Zhou H and Wang J.
  TITLE     High expression of neuroguidin increases the sensitivity of acute
            myeloid leukemia cells to chemotherapeutic drugs
  JOURNAL   J Hematol Oncol 8, 11 (2015)
   PUBMED   25887473
  REMARK    GeneRIF: the results of this study in vitro confirmed that NGDN
            over-expression can increase the sensitivity of human myeloid
            multidrug-resistant leukemia cells to chemotherapeutic drugs
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1108)
  AUTHORS   Baltz AG, Munschauer M, Schwanhausser B, Vasile A, Murakawa Y,
            Schueler M, Youngs N, Penfold-Brown D, Drew K, Milek M, Wyler E,
            Bonneau R, Selbach M, Dieterich C and Landthaler M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   7  (bases 1 to 1108)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein C,
            Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   8  (bases 1 to 1108)
  AUTHORS   Sihn CR, Lee YS, Jeong JS, Park K and Kim SH.
  TITLE     CANu1, a novel nucleolar protein, accumulated on centromere in
            response to DNA damage
  JOURNAL   Genes Cells 13 (8), 787-796 (2008)
   PUBMED   18547334
  REMARK    GeneRIF: Study isolated a novel human gene, to be called as CANu1,
            by the large-scale genome-wide association analysis to screen
            specific Single nucleotide polymorphisms in colon cancer.
REFERENCE   9  (bases 1 to 1108)
  AUTHORS   Jung MY, Lorenz L and Richter JD.
  TITLE     Translational control by neuroguidin, a eukaryotic initiation factor
            4E and CPEB binding protein
  JOURNAL   Mol Cell Biol 26 (11), 4277-4287 (2006)
   PUBMED   16705177
REFERENCE   10  (bases 1 to 1108)
  AUTHORS   Nousiainen M, Sillje HH, Sauer G, Nigg EA and Korner R.
  TITLE     Phosphoproteome analysis of the human mitotic spindle
  JOURNAL   Proc Natl Acad Sci U S A 103 (14), 5391-5396 (2006)
   PUBMED   16565220
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC030817.1, SRR5189667.18874.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000408901.8/ ENSP00000386134.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC030817.1 and AL132855.4.
            On Nov 22, 2018 this sequence version replaced NM_001042635.1.
            Summary: Neuroguidin is an EIF4E (MIM 133440)-binding protein that
            interacts with CPEB (MIM 607342) and functions as a translational
            regulatory protein during development of the vertebrate nervous
            system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar
            2008].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1108
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1108
                     /gene="NGDN"
                     /gene_synonym="C14orf120; CANu1; LCP5; lpd-2; NGD"
                     /note="neuroguidin"
                     /db_xref="GeneID:25983"
                     /db_xref="HGNC:HGNC:20271"
                     /db_xref="MIM:610777"
     CDS             14..961
                     /gene="NGDN"
                     /gene_synonym="C14orf120; CANu1; LCP5; lpd-2; NGD"
                     /note="isoform 1 is encoded by transcript variant 1;
                     eukaryotic initiation factor 4E and CPEB binding protein;
                     EIF4E-binding protein; centromere accumulated nuclear
                     protein 1; neuroguidin, EIF4E binding protein"
                     /codon_start=1
                     /product="neuroguidin isoform 1"
                     /protein_id="NP_001036100.1"
                     /db_xref="CCDS:CCDS41926.1"
                     /db_xref="GeneID:25983"
                     /db_xref="HGNC:HGNC:20271"
                     /db_xref="MIM:610777"
                     /translation="MAALGVLESDLPSAVTLLKNLQEQVMAVTAQVKSLTQKVQAGAYP
                     TEKGLSFLEVKDQLLLMYLMDLTHLILDKASGGSLQGHDAVLRLVEIRTVLEKLRPLDQ
                     KLKYQIDKLIKTAVTGSLSENDPLRFKPHPSNMMSKLSSEDEEEDEAEDDQSEASGKKS
                     VKGVSKKYVPPRLVPVHYDETEAEREKKRLERAKRRALSSSVIRELKEQYSDAPEEIRD
                     ARHPHVTRQSQEDQHRINYEESMMVRLSVSKREKGRRKRANVMSSQLHSLTHFSDISAL
                     TGGTVHLDEDQNPIKKRKKIPQKGRKKKGFRRRR"
     misc_feature    17..19
                     /gene="NGDN"
                     /gene_synonym="C14orf120; CANu1; LCP5; lpd-2; NGD"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q8NEJ9.1); acetylation site"
     misc_feature    134..535
                     /gene="NGDN"
                     /gene_synonym="C14orf120; CANu1; LCP5; lpd-2; NGD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEJ9.1);
                     Region: Necessary for interaction with EIF4E.
                     /evidence=ECO:0000250"
     misc_feature    374..376
                     /gene="NGDN"
                     /gene_synonym="C14orf120; CANu1; LCP5; lpd-2; NGD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NEJ9.1); phosphorylation site"
     misc_feature    383..520
                     /gene="NGDN"
                     /gene_synonym="C14orf120; CANu1; LCP5; lpd-2; NGD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEJ9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    437..439
                     /gene="NGDN"
                     /gene_synonym="C14orf120; CANu1; LCP5; lpd-2; NGD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NEJ9.1); phosphorylation site"
     misc_feature    440..442
                     /gene="NGDN"
                     /gene_synonym="C14orf120; CANu1; LCP5; lpd-2; NGD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NEJ9.1); phosphorylation site"
     misc_feature    623..625
                     /gene="NGDN"
                     /gene_synonym="C14orf120; CANu1; LCP5; lpd-2; NGD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NEJ9.1); phosphorylation site"
     misc_feature    653..655
                     /gene="NGDN"
                     /gene_synonym="C14orf120; CANu1; LCP5; lpd-2; NGD"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NEJ9.1); phosphorylation site"
     misc_feature    842..958
                     /gene="NGDN"
                     /gene_synonym="C14orf120; CANu1; LCP5; lpd-2; NGD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NEJ9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1085..1090
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NGDN"
                     /gene_synonym="C14orf120; CANu1; LCP5; lpd-2; NGD"
                     /note="hexamer: AATAAA"
     polyA_site      1108
                     /gene="NGDN"
                     /gene_synonym="C14orf120; CANu1; LCP5; lpd-2; NGD"
                     /note="major polyA site"
ORIGIN
        1 gggctttgcg aagatggcgg cgctgggggt gctggagtcc gacctgccaa gtgccgtgac
       61 acttctgaaa aatctccagg agcaagtgat ggctgtaact gcacaagtga aatcactgac
      121 acaaaaagtt caagctggtg cctatcctac agaaaagggt ctcagcttct tggaagtgaa
      181 agaccagctg ctgctcatgt accttatgga tttgacccac ctcattctgg acaaagcctc
      241 aggaggatct cttcagggac atgatgcagt tttgagactg gtggagattc gcacggtttt
      301 ggaaaagctt cgtcccttgg accaaaagct gaagtatcaa attgacaagc tgatcaagac
      361 tgcagtgaca ggcagcctta gtgagaatga cccacttcgt tttaagcctc atcccagcaa
      421 tatgatgagc aagttgagct ctgaggatga ggaggaagat gaagcagaag atgaccagtc
      481 tgaggcttca gggaagaaat ctgtgaaggg agtgtctaag aaatatgttc ctccacgctt
      541 ggttccagta cattatgatg aaacagaagc tgagcgggag aagaagcgtc tagaacgagc
      601 caagagacgg gcattgagca gctctgtcat tcgtgaactt aaggagcagt actcagatgc
      661 tccagaggaa atccgtgatg ctcggcatcc ccatgttacc cgccagagtc aggaggacca
      721 acacaggatt aactatgagg agagcatgat ggtgcgtttg agcgtcagta agcgagagaa
      781 aggacggcga aaacgagcaa atgtcatgag ctcacaactt cattccctta cacacttcag
      841 tgacatcagt gctttgacag ggggaactgt tcatcttgat gaggatcaga atcctattaa
      901 gaagcggaag aagatacctc agaaaggtcg gaagaaaaaa ggttttcgga ggcggcggtg
      961 attatgggtg tacatatttg tatatttttt gtcatcctga gatacttcta atttcattgt
     1021 atataggtgg ttttccctgg aattcattaa ttgtttgctt tggacatgtg gaaagagcct
     1081 tactaataaa attgattttg cttatgaa
//
LOCUS       NM_001042646            5128 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens trafficking kinesin protein 1 (TRAK1), transcript
            variant 1, mRNA.
ACCESSION   NM_001042646
VERSION     NM_001042646.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5128)
  AUTHORS   Benhamida JK, Harmsen HJ, Ma D, William CM, Li BK, Villafania L,
            Sukhadia P, Mullaney KA, Dewan MC, Vakiani E, Karajannis MA, Snuderl
            M, Zagzag D, Ladanyi M, Rosenblum MK and Bale TA.
  TITLE     Recurrent TRAK1::RAF1 Fusions in pediatric low-grade gliomas
  JOURNAL   Brain Pathol 33 (5), e13185 (2023)
   PUBMED   37399073
  REMARK    GeneRIF: Recurrent TRAK1::RAF1 Fusions in pediatric low-grade
            gliomas.
REFERENCE   2  (bases 1 to 5128)
  AUTHORS   Wu H, Liu Y, Li H, Du C, Li K, Dong S, Meng Q and Zhang H.
  TITLE     TRAK1-Mediated Abnormality of Mitochondrial Fission Increases
            Seizure Susceptibility in Temporal Lobe Epilepsy
  JOURNAL   Mol Neurobiol 58 (3), 1237-1247 (2021)
   PUBMED   33119838
  REMARK    GeneRIF: TRAK1-Mediated Abnormality of Mitochondrial Fission
            Increases Seizure Susceptibility in Temporal Lobe Epilepsy.
REFERENCE   3  (bases 1 to 5128)
  AUTHORS   Henrichs V, Grycova L, Barinka C, Nahacka Z, Neuzil J, Diez S,
            Rohlena J, Braun M and Lansky Z.
  TITLE     Mitochondria-adaptor TRAK1 promotes kinesin-1 driven transport in
            crowded environments
  JOURNAL   Nat Commun 11 (1), 3123 (2020)
   PUBMED   32561740
  REMARK    GeneRIF: Mitochondria-adaptor TRAK1 promotes kinesin-1 driven
            transport in crowded environments. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5128)
  AUTHORS   Lee CA, Chin LS and Li L.
  TITLE     Hypertonia-linked protein Trak1 functions with mitofusins to promote
            mitochondrial tethering and fusion
  JOURNAL   Protein Cell 9 (8), 693-716 (2018)
   PUBMED   28924745
  REMARK    GeneRIF: The findings uncover a novel function of Trak1 as a
            regulator of mitochondrial fusion and provide evidence linking
            dysregulated mitochondrial dynamics to hypertonia pathogenesis.
REFERENCE   5  (bases 1 to 5128)
  AUTHORS   Onodera Y, Nam JM, Horikawa M, Shirato H and Sabe H.
  TITLE     Arf6-driven cell invasion is intrinsically linked to TRAK1-mediated
            mitochondrial anterograde trafficking to avoid oxidative catastrophe
  JOURNAL   Nat Commun 9 (1), 2682 (2018)
   PUBMED   29992963
  REMARK    GeneRIF: Data show that the ADP-ribosylation factor 6
            (Arf6)-trafficking kinesin protein 1 (trak1) promote the anterograde
            trafficking of mitochondria. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5128)
  AUTHORS   Ozyildirim AM, Wistow GJ, Gao J, Wang J, Dickinson DP, Frierson HF
            Jr and Laurie GW.
  TITLE     The lacrimal gland transcriptome is an unusually rich source of rare
            and poorly characterized gene transcripts
  JOURNAL   Invest Ophthalmol Vis Sci 46 (5), 1572-1580 (2005)
   PUBMED   15851553
REFERENCE   7  (bases 1 to 5128)
  AUTHORS   Brickley K, Smith MJ, Beck M and Stephenson FA.
  TITLE     GRIF-1 and OIP106, members of a novel gene family of coiled-coil
            domain proteins: association in vivo and in vitro with kinesin
  JOURNAL   J Biol Chem 280 (15), 14723-14732 (2005)
   PUBMED   15644324
  REMARK    GeneRIF: GRIF-1 and OIP106 have roles in protein and/or organelle
            transport in excitable cells in a manner analogous to glutamate
            receptor-interacting-protein 1
REFERENCE   8  (bases 1 to 5128)
  AUTHORS   Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A,
            Meil A, Wojcik J, Legrain P and Gauthier JM.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   9  (bases 1 to 5128)
  AUTHORS   Iyer SP and Hart GW.
  TITLE     Roles of the tetratricopeptide repeat domain in O-GlcNAc transferase
            targeting and protein substrate specificity
  JOURNAL   J Biol Chem 278 (27), 24608-24616 (2003)
   PUBMED   12724313
REFERENCE   10  (bases 1 to 5128)
  AUTHORS   Iyer SP, Akimoto Y and Hart GW.
  TITLE     Identification and cloning of a novel family of coiled-coil domain
            proteins that interact with O-GlcNAc transferase
  JOURNAL   J Biol Chem 278 (7), 5399-5409 (2003)
   PUBMED   12435728
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB028965.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000327628.10/ ENSP00000328998.5
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB028965.1, AC018358.20 and H05058.1.
            On Nov 22, 2018 this sequence version replaced NM_001042646.2.
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5128
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.1"
     gene            1..5128
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="trafficking kinesin protein 1"
                     /db_xref="GeneID:22906"
                     /db_xref="HGNC:HGNC:29947"
                     /db_xref="MIM:608112"
     CDS             114..2975
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="isoform 1 is encoded by transcript variant 1;
                     OGT(O-Glc-NAc transferase)-interacting protein 106 KDa; 106
                     kDa O-GlcNAc transferase-interacting protein; milton
                     homolog 1; O-linked N-acetylglucosamine transferase
                     interacting protein 106; protein Milton; trafficking
                     protein, kinesin binding 1"
                     /codon_start=1
                     /product="trafficking kinesin-binding protein 1 isoform 1"
                     /protein_id="NP_001036111.1"
                     /db_xref="CCDS:CCDS43072.1"
                     /db_xref="GeneID:22906"
                     /db_xref="HGNC:HGNC:29947"
                     /db_xref="MIM:608112"
                     /translation="MALVFQFGQPVRAQPLPGLCHGKLIRTNACDVCNSTDLPEVEIIS
                     LLEEQLPHYKLRADTIYGYDHDDWLHTPLISPDANIDLTTEQIEETLKYFLLCAERVGQ
                     MTKTYNDIDAVTRLLEEKERDLELAARIGQSLLKKNKTLTERNELLEEQVEHIREEVSQ
                     LRHELSMKDELLQFYTSAAEESEPESVCSTPLKRNESSSSVQNYFHLDSLQKKLKDLEE
                     ENVVLRSEASQLKTETITYEEKEQQLVNDCVKELRDANVQIASISEELAKKTEDAARQQ
                     EEITHLLSQIVDLQKKAKACAVENEELVQHLGAAKDAQRQLTAELRELEDKYAECMEML
                     HEAQEELKNLRNKTMPNTTSRRYHSLGLFPMDSLAAEIEGTMRKELQLEEAESPDITHQ
                     KRVFETVRNINQVVKQRSLTPSPMNIPGSNQSSAMNSLLSSCVSTPRSSFYGSDIGNVV
                     LDNKTNSIILETEAADLGNDERSKKPGTPGTPGSHDLETALRRLSLRRENYLSERRFFE
                     EEQERKLQELAEKGELRSGSLTPTESIMSLGTHSRFSEFTGFSGMSFSSRSYLPEKLQI
                     VKPLEGSATLHHWQQLAQPHLGGILDPRPGVVTKGFRTLDVDLDEVYCLNDFEEDDTGD
                     HISLPRLATSTPVQHPETSAHHPGKCMSQTNSTFTFTTCRILHPSDELTRVTPSLNSAP
                     TPACGSTSHLKSTPVATPCTPRRLSLAESFTNTRESTTTMSTSLGLVWLLKERGISAAV
                     YDPQSWDRAGRGSLLHSYTPKMAVIPSTPPNSPMQTPTSSPPSFEFKCTSPPYDNFLAS
                     KPASSILREVREKNVRSSESQTDVSVSNLNLVDKVRRFGVAKVVNSGRAHVPTLTEEQG
                     PLLCGPPGPAPALVPRGLVPEGLPLRCPTVTSAIGGLQLNSGIRRNRSFPTMVGSSMQM
                     KAPVTLTSGILMGAKLSKQTSLR"
     misc_feature    1188..1640
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPV9.1);
                     Region: Interaction with HGS.
                     /evidence=ECO:0000269|PubMed:18675823"
     misc_feature    1452..1454
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="O-linked (GlcNAc) serine.
                     /evidence=ECO:0000269|PubMed:24995978; propagated from
                     UniProtKB/Swiss-Prot (Q9UPV9.1); glycosylation site"
     misc_feature    1527..1598
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPV9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1722..1724
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6PD31; propagated from
                     UniProtKB/Swiss-Prot (Q9UPV9.1); phosphorylation site"
     misc_feature    2085..2129
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPV9.1);
                     Region: Interaction with OGT.
                     /evidence=ECO:0000269|PubMed:24995978"
     misc_feature    2151..2153
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="O-linked (GlcNAc) serine.
                     /evidence=ECO:0000269|PubMed:24995978; propagated from
                     UniProtKB/Swiss-Prot (Q9UPV9.1); glycosylation site"
     misc_feature    2268..2270
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="O-linked (GlcNAc) serine.
                     /evidence=ECO:0000269|PubMed:24995978; propagated from
                     UniProtKB/Swiss-Prot (Q9UPV9.1); glycosylation site"
     misc_feature    2268..2270
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6PD31; propagated from
                     UniProtKB/Swiss-Prot (Q9UPV9.1); phosphorylation site"
     misc_feature    2442..2501
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UPV9.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2868..2870
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UPV9.1); phosphorylation site"
     misc_feature    2916..2918
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="O-linked (GlcNAc) threonine.
                     /evidence=ECO:0000269|PubMed:24995978; propagated from
                     UniProtKB/Swiss-Prot (Q9UPV9.1); glycosylation site"
     regulatory      4341..4346
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="hexamer: AATAAA"
     polyA_site      4363
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="major polyA site"
     regulatory      4989..4994
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="hexamer: AATAAG"
     polyA_site      5012
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="major polyA site"
     regulatory      5105..5110
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
                     /note="hexamer: ATTAAA"
     polyA_site      5128
                     /gene="TRAK1"
                     /gene_synonym="DEE68; EIEE68; MILT1; OIP106"
ORIGIN
        1 agaaaactgc tgaggaaggc acgggagggt ggctgtgcga ggtactgccg gggctgagct
       61 ctcatggagg ctctctctgt tctctgaagt gcctttggag tttatgtctg cacatggcat
      121 tggtttttca attcgggcag cccgtcaggg ctcagcctct gccaggactc tgccacggca
      181 agctcattcg gacaaacgcc tgtgatgtgt gcaacagcac cgatcttccg gaagtcgaga
      241 tcattagcct gctggaggag cagctgcccc attataagtt aagagccgac accatctacg
      301 gttatgacca cgacgactgg ctccatacac ctctcatttc tccagatgcc aacattgacc
      361 tcacaaccga gcaaattgaa gagacgttaa aatacttcct tttatgtgct gaaagagttg
      421 gccagatgac taagacatat aatgacatag atgctgtcac tcggcttctt gaggagaaag
      481 agcgggattt agaattggcc gctcgcatcg gccagtcgtt gttgaagaag aacaagaccc
      541 taaccgagag gaacgagctg ctggaggagc aggtggaaca catcagggag gaggtgtctc
      601 agctccggca tgagctgtcc atgaaggatg agctgcttca gttctacacc agcgctgcgg
      661 aggagagtga gcccgagtcc gtttgctcaa ccccgttgaa gaggaatgag tcgtcctcct
      721 cagtccagaa ttactttcat ttggattctc ttcaaaagaa gctgaaagac cttgaagagg
      781 agaatgttgt acttcgatcc gaggccagcc agctgaagac agagaccatc acctatgagg
      841 agaaggagca gcagctggtc aatgactgcg tgaaggagct gagggatgcc aatgtccaga
      901 ttgctagtat ctcagaggaa ctggccaaga agacggaaga tgctgcccgc cagcaagagg
      961 agatcacaca cctgctatcg caaatagttg atttgcagaa aaaggcaaaa gcttgcgcag
     1021 tggaaaatga agaacttgtc cagcatctgg gggctgctaa ggatgcccag cggcagctca
     1081 cagccgagct gcgtgagctg gaggacaagt acgcagagtg catggagatg ctgcatgagg
     1141 cgcaggagga gctgaagaac ctccggaaca aaaccatgcc caataccacg tctcggcgct
     1201 accactcact gggcctgttt cccatggatt ccttggcagc agagattgag ggaacgatgc
     1261 gcaaggagct gcagttggaa gaggccgagt ctccagacat cactcaccag aagcgtgtct
     1321 ttgagacagt aagaaacatc aaccaggttg tcaagcagag atctctgacc ccttctccca
     1381 tgaacatccc cggctccaac cagtcctcgg ccatgaactc cctcctgtcc agctgcgtca
     1441 gcaccccccg gtccagcttc tacggcagcg acataggcaa cgtcgtcctc gacaacaaga
     1501 ccaacagcat cattctggaa acagaggcag ccgacctggg aaacgatgag cggagtaaga
     1561 agccggggac gccgggcacc ccaggctccc acgacctgga gacggcgctg aggcggctgt
     1621 ccctgcgccg ggagaactac ctctcggaga ggaggttctt tgaggaggag caagagagga
     1681 agctccagga gctggcggag aagggcgagc tgcgcagcgg ctccctcaca cccactgaga
     1741 gcatcatgtc cctgggcacg cactcccgct tctccgagtt caccggcttc tctggcatgt
     1801 ccttcagcag ccgctcctac ctgcctgaga agctccagat cgtgaagccg ctggaaggtt
     1861 ccgccacact tcaccactgg cagcagttgg cccaacctca ccttgggggc atcctggacc
     1921 cccggcccgg tgtggtcacc aagggcttcc ggacgctgga tgttgacctg gacgaagtgt
     1981 actgccttaa cgactttgaa gaagatgaca caggtgacca catttctctc ccacgcctag
     2041 ctacctccac tccagttcag cacccagaga cctcagcgca ccatcctggg aagtgcatgt
     2101 ctcagaccaa ctccaccttc accttcacca cctgtcgcat cctgcatcct tcagatgagc
     2161 tcactcgggt cacaccaagc cttaactcag ccccaactcc agcttgtggc agcaccagcc
     2221 acttgaaatc cacgccggtg gccacaccat gcactccacg gagactgagc ctggctgagt
     2281 ccttcactaa cacccgtgag tccacgacca ccatgagcac atccctgggg ctcgtgtggc
     2341 tgttgaagga gcggggcatt tctgctgccg tgtacgaccc ccagagctgg gacagggccg
     2401 gccggggctc cctcctgcac tcctacacgc ccaagatggc tgtgatcccc tctactccgc
     2461 cgaactcgcc tatgcagaca cccacatcct ccccaccctc ctttgagttc aagtgcacga
     2521 gccctcccta cgacaatttc ctggcttcca agccagccag ctccatcctg agggaagtga
     2581 gagaaaagaa cgtccgcagc agcgagagcc agaccgacgt gtccgtctcc aacctcaacc
     2641 tcgtggacaa agtcaggagg tttggggtgg ccaaagtggt gaactcaggg cgagcccatg
     2701 tccccacctt gactgaggag cagggacccc tcctctgtgg gcccccgggg ccagcaccag
     2761 cccttgttcc cagaggcctg gtacctgagg gcctgcccct cagatgcccc actgtcacca
     2821 gtgccatcgg tgggctgcag ctcaatagtg gcatccggcg gaatcgcagc ttccccacca
     2881 tggtgggatc tagcatgcag atgaaagctc ctgtgactct cacctcgggc atcttgatgg
     2941 gtgctaagct ctccaaacaa actagcttac ggtgaggact ggaggggggc cggttgccct
     3001 agaggagacc cacgttctcc tctcttgctc ccacctccct ctcttccccc cacagtgcac
     3061 tccctccctc tgcccttctc tgtccacccc ctcctaagct agacaaatca acctcgtgcc
     3121 taatggagga agtgtggaaa ctttgtaaaa tgtgtacata ggacttggag accttgtgtc
     3181 cgccctgctc tttcttccga tcccacagga agtgcccctg cactgtcatc actctcacga
     3241 ggacgtcacc tgtgctaacc tgggggaagg tggggtcctt tcttctttcc ttttgagaag
     3301 cactgaaact cccaagtgtg ttcttatccc atggatagga aaccagtgaa ttccgtggct
     3361 ggcacaccac gagctgtcac gcggcacggg tcataacaca tctgggtgtc atcggacacc
     3421 tcacctcgcc caccctgtag gagcgtaagg agcctccatc ctcagccacg tgcagctgac
     3481 gtggctttcc tgatcggagg gcttttcttt tatgggtggc ccagcttctt caagaccttc
     3541 actgctctgc ctcagtggac agtcgtttct tttttgaggt gtgacctttt gttttcatgc
     3601 cttccccttg aagtcatcct gtgttttgta atcagctgtc aggccaaatg tctgacccga
     3661 aagagaatgt atttacactc atgctgcgtt gttcagcagc ccctctgtgt tctgtgtgat
     3721 ttgttttatt tttccttttt tttacatata tatgcaggga agtaatggta ctggtagtgt
     3781 atgttttcta tgtggttcaa atatgaattt cgaacacacc aagccgctaa tgagatagca
     3841 gcttttttct gggacccaga gtcacaacca aattgattta agaccggacc caagacacct
     3901 ttaacaatag gactgaaagg aaaaaggata gggaaaaagc ttattaaaga aatgtgtcaa
     3961 caccaaatgt agaggggaag aaccacaacc aggcataata ccaaaccggt tccaggggga
     4021 aacaaggctt tggtattccg ctggctccag cgctttttct gaaacccgag gctggccagg
     4081 gtgctgtcac catgcggtct ttgattgcag ccattcaatg cccacatgct tttccttctt
     4141 gtttcagaac agcacatggt cacaacaaga tattttcttt ccctccaaag ccttttgtct
     4201 ccttgtgcct ctttttatcc ttaggaaaag atccaggtgc ttgtgaaaag aatcatgaat
     4261 gcaacaaggg aggctggtcc tgttgctgtc gccgattaag ttttaaactt ttatttatta
     4321 tttatgtctg ccgtatttta aataaacatt ctcgttcctt ccagtttcag tcatagtgtg
     4381 tctgtggcat tccagtccaa ccatgtgact tatttattct aatttgaggg ctgcactgta
     4441 caccatggtg tcctgtgaca ccgtgttcca gacatttatg gaaggaaaac atcccatata
     4501 aatgaaactg tcatgctgtg tcctccccgg cagcagaaga tgtgtccttc cattgagtga
     4561 gggtaacctt atgtccacca aggatacttt gagaaagccc ctaaggaaca agcctcagtc
     4621 ccacggtttc agactattta ttctctgaac acaagagtat tggttaatta tgttctcagc
     4681 tctccctgct gttgtatgtg tgcattcact gcaagtaact tatatctttt tatttgaatg
     4741 tattttaaag cagtagatag aataacaaag gaatatgaaa accatggact gaatggacca
     4801 ttttatgtat tcagagagag aagccactca tcattgccag aaataccatg taaaaattgg
     4861 cagttcagag gttgcaatac ttagtatagt aaataaataa acggtcaaca ttgtgcaacc
     4921 actaccaaaa agtgtgttgt aatgcatcaa aaatcaacac aattttattc actaatgagt
     4981 atcaataaaa taagttcaaa tgatggaaac cacactggta ttctgatttg tattttgttt
     5041 ttatcttttc atcaaggaga cgatctcttt atgtaagact tgaaagtgtt tagctctttg
     5101 caaaattaaa tgaaaggcat atacttca
//
LOCUS       NM_001042681            8009 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens arginine-glutamic acid dipeptide repeats (RERE),
            transcript variant 2, mRNA.
ACCESSION   NM_001042681
VERSION     NM_001042681.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8009)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 8009)
  AUTHORS   Fregeau B, Kim BJ, Hernandez-Garcia A, Jordan VK, Cho MT, Schnur RE,
            Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S,
            Baranano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James
            P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen
            E, Barkovich AJ, Scott DA and Sherr EH.
  TITLE     De Novo Mutations of RERE Cause a Genetic Syndrome with Features
            that Overlap Those Associated with Proximal 1p36 Deletions
  JOURNAL   Am J Hum Genet 98 (5), 963-970 (2016)
   PUBMED   27087320
  REMARK    GeneRIF: suggest that mutations in RERE cause a genetic syndrome and
            that haploinsufficiency of RERE might be sufficient to cause many of
            the phenotypes associated with proximal 1p36 deletions
REFERENCE   3  (bases 1 to 8009)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen AA,
            Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke L,
            Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM, Tiemeier
            H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst FC, Ward ME,
            Wright MJ, Davey Smith G, Deary IJ, Johannesson M, Plomin R,
            Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
REFERENCE   4  (bases 1 to 8009)
  AUTHORS   Springelkamp H, Hohn R, Mishra A, Hysi PG, Khor CC, Loomis SJ,
            Bailey JN, Gibson J, Thorleifsson G, Janssen SF, Luo X, Ramdas WD,
            Vithana E, Nongpiur ME, Montgomery GW, Xu L, Mountain JE,
            Gharahkhani P, Lu Y, Amin N, Karssen LC, Sim KS, van Leeuwen EM,
            Iglesias AI, Verhoeven VJ, Hauser MA, Loon SC, Despriet DD, Nag A,
            Venturini C, Sanfilippo PG, Schillert A, Kang JH, Landers J,
            Jonasson F, Cree AJ, van Koolwijk LM, Rivadeneira F, Souzeau E,
            Jonsson V, Menon G, Weinreb RN, de Jong PT, Oostra BA, Uitterlinden
            AG, Hofman A, Ennis S, Thorsteinsdottir U, Burdon KP, Spector TD,
            Mirshahi A, Saw SM, Vingerling JR, Teo YY, Haines JL, Wolfs RC,
            Lemij HG, Tai ES, Jansonius NM, Jonas JB, Cheng CY, Aung T,
            Viswanathan AC, Klaver CC, Craig JE, Macgregor S, Mackey DA, Lotery
            AJ, Stefansson K, Bergen AA, Young TL, Wiggs JL, Pfeiffer N, Wong
            TY, Pasquale LR, Hewitt AW, van Duijn CM and Hammond CJ.
  CONSRTM   Blue Mountains Eye Study-GWAS group; NEIGHBORHOOD Consortium;
            Wellcome Trust Case Control Consortium 2 (WTCCC2)
  TITLE     Meta-analysis of genome-wide association studies identifies novel
            loci that influence cupping and the glaucomatous process
  JOURNAL   Nat Commun 5, 4883 (2014)
   PUBMED   25241763
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 8009)
  AUTHORS   Medici M, Porcu E, Pistis G, Teumer A, Brown SJ, Jensen RA, Rawal R,
            Roef GL, Plantinga TS, Vermeulen SH, Lahti J, Simmonds MJ, Husemoen
            LL, Freathy RM, Shields BM, Pietzner D, Nagy R, Broer L, Chaker L,
            Korevaar TI, Plia MG, Sala C, Volker U, Richards JB, Sweep FC,
            Gieger C, Corre T, Kajantie E, Thuesen B, Taes YE, Visser WE,
            Hattersley AT, Kratzsch J, Hamilton A, Li W, Homuth G, Lobina M,
            Mariotti S, Soranzo N, Cocca M, Nauck M, Spielhagen C, Ross A,
            Arnold A, van de Bunt M, Liyanarachchi S, Heier M, Grabe HJ,
            Masciullo C, Galesloot TE, Lim EM, Reischl E, Leedman PJ, Lai S,
            Delitala A, Bremner AP, Philips DI, Beilby JP, Mulas A, Vocale M,
            Abecasis G, Forsen T, James A, Widen E, Hui J, Prokisch H,
            Rietzschel EE, Palotie A, Feddema P, Fletcher SJ, Schramm K, Rotter
            JI, Kluttig A, Radke D, Traglia M, Surdulescu GL, He H, Franklyn JA,
            Tiller D, Vaidya B, de Meyer T, Jorgensen T, Eriksson JG, O'Leary
            PC, Wichmann E, Hermus AR, Psaty BM, Ittermann T, Hofman A, Bosi E,
            Schlessinger D, Wallaschofski H, Pirastu N, Aulchenko YS, de la
            Chapelle A, Netea-Maier RT, Gough SC, Meyer Zu Schwabedissen H,
            Frayling TM, Kaufman JM, Linneberg A, Raikkonen K, Smit JW, Kiemeney
            LA, Rivadeneira F, Uitterlinden AG, Walsh JP, Meisinger C, den
            Heijer M, Visser TJ, Spector TD, Wilson SG, Volzke H, Cappola A,
            Toniolo D, Sanna S, Naitza S and Peeters RP.
  TITLE     Identification of novel genetic Loci associated with thyroid
            peroxidase antibodies and clinical thyroid disease
  JOURNAL   PLoS Genet 10 (2), e1004123 (2014)
   PUBMED   24586183
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 8009)
  AUTHORS   Yi J, Kloeker S, Jensen CC, Bockholt S, Honda H, Hirai H and
            Beckerle MC.
  TITLE     Members of the Zyxin family of LIM proteins interact with members of
            the p130Cas family of signal transducers
  JOURNAL   J Biol Chem 277 (11), 9580-9589 (2002)
   PUBMED   11782456
REFERENCE   7  (bases 1 to 8009)
  AUTHORS   Waerner T, Gardellin P, Pfizenmaier K, Weith A and Kraut N.
  TITLE     Human RERE is localized to nuclear promyelocytic leukemia oncogenic
            domains and enhances apoptosis
  JOURNAL   Cell Growth Differ 12 (4), 201-210 (2001)
   PUBMED   11331249
REFERENCE   8  (bases 1 to 8009)
  AUTHORS   Yanagisawa H, Bundo M, Miyashita T, Okamura-Oho Y, Tadokoro K,
            Tokunaga K and Yamada M.
  TITLE     Protein binding of a DRPLA family through arginine-glutamic acid
            dipeptide repeats is enhanced by extended polyglutamine
  JOURNAL   Hum Mol Genet 9 (9), 1433-1442 (2000)
   PUBMED   10814707
REFERENCE   9  (bases 1 to 8009)
  AUTHORS   Amler LC, Bauer A, Corvi R, Dihlmann S, Praml C, Cavenee WK, Schwab
            M and Hampton GM.
  TITLE     Identification and characterization of novel genes located at the
            t(1;15)(p36.2;q24) translocation breakpoint in the neuroblastoma
            cell line NGP
  JOURNAL   Genomics 64 (2), 195-202 (2000)
   PUBMED   10729226
REFERENCE   10  (bases 1 to 8009)
  AUTHORS   Scott,D.A. and Sherr,E.H.
  TITLE     RERE-Related Disorders
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   30896913
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC062342.1, SRR7346977.2559560.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000400908.7/ ENSP00000383700.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA868444.1, BC062342.1,
            AL356072.21 and CD679363.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001042681.1.
            Summary: This gene encodes a member of the atrophin family of
            arginine-glutamic acid (RE) dipeptide repeat-containing proteins.
            The encoded protein co-localizes with a transcription factor in the
            nucleus, and its overexpression triggers apoptosis. A similar
            protein in mouse associates with histone deacetylase and is thought
            to function as a transcriptional co-repressor during embryonic
            development. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' UTR, compared to variant 1. Variants 1 and 2 encode the same
            isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..8009
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.23"
     gene            1..8009
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="arginine-glutamic acid dipeptide repeats"
                     /db_xref="GeneID:473"
                     /db_xref="HGNC:HGNC:9965"
                     /db_xref="MIM:605226"
     misc_feature    488..490
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="upstream in-frame stop codon"
     CDS             626..5326
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="isoform a is encoded by transcript variant 2;
                     atrophin 2; atrophin-1 related protein; atrophin-1 like
                     protein; arginine-glutamic acid dipeptide (RE) repeats"
                     /codon_start=1
                     /product="arginine-glutamic acid dipeptide repeats protein
                     isoform a"
                     /protein_id="NP_001036146.1"
                     /db_xref="CCDS:CCDS95.1"
                     /db_xref="GeneID:473"
                     /db_xref="HGNC:HGNC:9965"
                     /db_xref="MIM:605226"
                     /translation="MTADKDKDKDKEKDRDRDRDREREKRDKARESENSRPRRSCTLEG
                     GAKNYAESDHSEDEDNDNNSATAEESTKKNKKKPPKKKSRYERTDTGEITSYITEDDVV
                     YRPGDCVYIESRRPNTPYFICSIQDFKLVHNSQACCRSPTPALCDPPACSLPVASQPPQ
                     HLSEAGRGPVGSKRDHLLMNVKWYYRQSEVPDSVYQHLVQDRHNENDSGRELVITDPVI
                     KNRELFISDYVDTYHAAALRGKCNISHFSDIFAAREFKARVDSFFYILGYNPETRRLNS
                     TQGEIRVGPSHQAKLPDLQPFPSPDGDTVTQHEELVWMPGVNDCDLLMYLRAARSMAAF
                     AGMCDGGSTEDGCVAASRDDTTLNALNTLHESGYDAGKALQRLVKKPVPKLIEKCWTED
                     EVKRFVKGLRQYGKNFFRIRKELLPNKETGELITFYYYWKKTPEAASSRAHRRHRRQAV
                     FRRIKTRTASTPVNTPSRPPSSEFLDLSSASEDDFDSEDSEQELKGYACRHCFTTTSKD
                     WHHGGRENILLCTDCRIHFKKYGELPPIEKPVDPPPFMFKPVKEEDDGLSGKHSMRTRR
                     SRGSMSTLRSGRKKQPASPDGRTSPINEDIRSSGRNSPSAASTSSNDSKAETVKKSAKK
                     VKEEASSPLKSNKRQREKVASDTEEADRTSSKKTKTQEISRPNSPSEGEGESSDSRSVN
                     DEGSSDPKDIDQDNRSTSPSIPSPQDNESDSDSSAQQQMLQAQPPALQAPTGVTPAPSS
                     APPGTPQLPTPGPTPSATAVPPQGSPTASQAPNQPQAPTAPVPHTHIQQAPALHPQRPP
                     SPHPPPHPSPHPPLQPLTGSAGQPSAPSHAQPPLHGQGPPGPHSLQAGPLLQHPGPPQP
                     FGLPPQASQGQAPLGTSPAAAYPHTSLQLPASQSALQSQQPPREQPLPPAPLAMPHIKP
                     PPTTPIPQLPAPQAHKHPPHLSGPSPFSMNANLPPPPALKPLSSLSTHHPPSAHPPPLQ
                     LMPQSQPLPSSPAQPPGLTQSQNLPPPPASHPPTGLHQVAPQPPFAQHPFVPGGPPPIT
                     PPTCPSTSTPPAGPGTSAQPPCSGAAASGGSIAGGSSCPLPTVQIKEEALDDAEEPESP
                     PPPPRSPSPEPTVVDTPSHASQSARFYKHLDRGYNSCARTDLYFMPLAGSKLAKKREEA
                     IEKAKREAEQKAREEREREKEKEKEREREREREREAERAAKASSSAHEGRLSDPQLSGP
                     GHMRPSFEPPPTTIAAVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFYMPLNPTDPL
                     LAYHMPGLYNVDPTIRERELREREIREREIRERELRERMKPGFEVKPPELDPLHPAANP
                     MEHFARHSALTIPPTAGPHPFASFHPGLNPLERERLALAGPQLRPEMSYPDRLAAERIH
                     AERMASLTSDPLARLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQGSAGPVHPLVDPLTA
                     GPHLARFPYPPGTLPNPLLGQPPHEHEMLRHPVFGTPYPRDLPGAIPPPMSAAHQLQAM
                     HAQSAELQRLAMEQQWLHGHPHMHGGHLPSQEDYYSRLKKEGDKQL"
     misc_feature    626..895
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2R6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    782..784
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9P2R6.2); phosphorylation site"
     misc_feature    791..793
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9P2R6.2); phosphorylation site"
     misc_feature    983..985
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P2R6.2); phosphorylation site"
     misc_feature    1049..1051
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q80TZ9; propagated from
                     UniProtKB/Swiss-Prot (Q9P2R6.2); phosphorylation site"
     misc_feature    1535..1537
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9P2R6.2); phosphorylation site"
     misc_feature    2015..2110
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2R6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2249..4024
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2R6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2405..2407
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P2R6.2); phosphorylation site"
     misc_feature    2423..2425
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P2R6.2); phosphorylation site"
     misc_feature    2462..2464
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9P2R6.2); phosphorylation site"
     misc_feature    2549..2551
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (Q9P2R6.2);
                     phosphorylation site"
     misc_feature    2591..2593
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9P2R6.2); phosphorylation site"
     misc_feature    2648..2650
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9P2R6.2);
                     phosphorylation site"
     misc_feature    2660..2662
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9P2R6.2);
                     phosphorylation site"
     misc_feature    3941..3943
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9P2R6.2);
                     phosphorylation site"
     misc_feature    3962..3964
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9P2R6.2); phosphorylation site"
     misc_feature    3968..3970
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q80TZ9; propagated from
                     UniProtKB/Swiss-Prot (Q9P2R6.2); phosphorylation site"
     misc_feature    3980..3982
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9P2R6.2); phosphorylation site"
     misc_feature    4097..4099
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q80TZ9; propagated from
                     UniProtKB/Swiss-Prot (Q9P2R6.2); acetylation site"
     misc_feature    4109..4363
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9P2R6.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4400..4402
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9P2R6.2); phosphorylation site"
     misc_feature    4421..4423
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9P2R6.2); phosphorylation site"
     regulatory      7987..7992
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="hexamer: AATAAA"
     polyA_site      8009
                     /gene="RERE"
                     /gene_synonym="ARG; ARP; ATN1L; DNB1; NEDBEH"
                     /note="major polyA site"
ORIGIN
        1 agacgctcgc gagcaaccct ccgcgctccg gagcctcctc agcctcccgc acaccccgag
       61 acgctcgccc cgctgggcct cggtccccgc ctcctccccc gtccttttcc cctctctcgc
      121 tccccacatt gtctctgcct cattttctct cctagttgag gattaaaaaa aaaaaaaaat
      181 caccatcatc ctcagggagc cccctcgccc tcggaaaaca aaaccagaca tgatcctggg
      241 ctcctgcttc tgaaagatct gcccgaccga ggaggaggga gcctaggttc aagtcgcagg
      301 aaaggtcacg gcagggaagc cccctcagcc cctccgcgtc gcctccccgc gggccgcccc
      361 tctcggccct gcgccccgcg gccccgcagc ctccgcgcgg cctcccgccc catccccgcc
      421 actttccccg gagctgggcc gcgaacacct cactattgat ggtgtagcgc tttaggggaa
      481 gcatttttga aacgttgggg ttgttggagt ggttggattt tccctggaat tgagtgagaa
      541 attcagaaga ctgaagccca ggcttactgt ctacctttca cggaggccta gccgtgagag
      601 gacagaagaa ggcacgtggc gaatcatgac agcggacaaa gacaaagaca aagacaaaga
      661 gaaggaccgg gaccgagacc gggaccgaga gagagagaaa agagacaaag caagagagag
      721 tgagaattca aggccacgcc ggagctgtac cttggaagga ggagccaaaa attatgctga
      781 gagtgatcac agtgaagacg aggacaatga caacaatagt gccaccgcag aggagtccac
      841 gaagaagaat aagaagaaac caccgaaaaa aaagtctcgt tatgaaagga cagataccgg
      901 tgagataaca tcctacatca ctgaagatga tgtggtctac agaccaggag actgtgtgta
      961 tatcgagagt cggaggccaa acacaccgta tttcatctgt agcattcaag acttcaaact
     1021 ggtccacaac tcccaggcct gttgcagatc tccaactcct gctttgtgtg accccccagc
     1081 atgctctctg ccggtggcat cacagccacc acagcatctt tctgaagccg ggagagggcc
     1141 tgtagggagt aagagggacc atctcctcat gaacgtcaaa tggtactacc gtcaatctga
     1201 ggttccagat tctgtgtatc agcatttggt tcaggatcga cataatgaaa atgactctgg
     1261 aagagaactt gtcattacag acccagttat caagaaccga gagctcttca tttctgatta
     1321 cgttgacact taccatgctg ctgcccttag agggaagtgt aacatctccc atttttctga
     1381 catatttgct gctagagagt ttaaagcccg agtggattca tttttctaca tattaggata
     1441 taaccctgag acaaggaggc tgaacagtac ccagggggag attcgtgtcg gtcctagtca
     1501 tcaggccaaa cttccagatc tgcaaccatt tccttctcca gatggtgata cagtgaccca
     1561 acatgaggaa ctggtctgga tgcctggagt taacgactgt gacctcctta tgtacttgag
     1621 ggcagcaagg agcatggcgg catttgcagg aatgtgtgat ggaggctcta cagaggacgg
     1681 ctgtgtcgca gcctctcggg atgacaccac tctgaatgca ctgaacacac tgcatgaaag
     1741 cggttacgat gctggcaaag ccctgcagcg cctggtgaag aagcctgtgc ccaagctcat
     1801 cgagaagtgc tggaccgagg acgaagtgaa acgcttcgtt aagggactca ggcagtacgg
     1861 gaagaacttc ttcagaatta gaaaggagct gcttcccaat aaggaaacag gggagctgat
     1921 caccttctat tactattgga agaagacccc cgaagcagcc agctcccgag cccatcgtag
     1981 gcaccgcagg caggccgtgt tcaggaggat taagactcgc accgcgtcca cacccgtcaa
     2041 cacaccctcc agacccccgt ccagtgaatt cttggaccta agttcagcca gtgaagatga
     2101 cttcgacagt gaggacagtg agcaggagct gaaggggtac gcctgccgcc actgcttcac
     2161 caccacctcc aaagattggc accacggagg ccgggagaac atcctgcttt gcaccgactg
     2221 tcgcatccac ttcaagaaat acggtgagct cccgcccatt gagaagcccg tggacccgcc
     2281 accgtttatg ttcaaacccg tcaaggaaga ggatgatggg ctcagtggga agcatagcat
     2341 gaggacacgg cggagtcggg gctcgatgtc gacactacgc agtggtcgga agaagcagcc
     2401 agccagccct gatggtcgca cctcacccat caatgaagac atccgctcca gcggccggaa
     2461 ctcccccagc gctgccagta cctccagcaa tgacagtaaa gcagagacag tgaagaagtc
     2521 ggccaagaag gtgaaggagg aagcctcttc ccctcttaag agtaacaaac gccagcggga
     2581 gaaggtggcc tctgatacgg aggaggctga caggaccagc tccaagaaga caaaaacgca
     2641 ggagatcagc aggcccaact cgccatctga aggtgaggga gagagttcag acagtcgcag
     2701 cgtcaacgat gagggtagca gtgaccccaa agacatcgac caggacaatc gcagcacgtc
     2761 cccgagcatc cccagccccc aggacaatga gagtgactcg gactcgtcag cccagcagca
     2821 gatgctgcag gcccagcccc cagccttgca ggctcccact ggggtcaccc cagctccctc
     2881 ctcagctcct ccagggaccc ctcagctgcc cacgccaggg cccacgccct ctgccactgc
     2941 agttccccca cagggctccc ccacggcctc ccaggcccct aaccagccac aggctcccac
     3001 agcgcctgtt ccccacaccc acatccaaca ggcaccggcc ttgcaccccc agcggccgcc
     3061 ctcaccgcat cccccgccgc atccctcgcc acatcccccg ctgcagcctc tgactgggtc
     3121 ggcgggccag ccttctgcac cctctcatgc ccagccccca ctgcacggtc agggcccacc
     3181 cggccctcac agcctgcagg ctgggcccct gctgcagcac ccaggccccc cacagccctt
     3241 tggcctccct ccccaggcct cccaaggcca ggcccctctg gggacctccc cagcagcagc
     3301 gtaccctcac acctccctgc agctgccagc ctctcagtca gcgctgcagt cccaacagcc
     3361 tccacgggag cagcccctgc caccagcgcc cttggccatg ccccacatca agcccccgcc
     3421 taccactccc atcccccagc tgccggcgcc acaggcccac aagcaccctc cccacctctc
     3481 ggggccctca cccttctcca tgaatgccaa cctgcctccc cctccagccc tgaagcccct
     3541 gagctccctg tccacacatc accccccgtc ggctcacccc ccacccctgc aactcatgcc
     3601 tcagagccag ccattgccct cctcgcccgc ccagcccccc gggctgaccc agagccagaa
     3661 cctgcccccg ccccctgcct cccacccccc tacaggcctc caccaggtgg ccccccaacc
     3721 cccgtttgct cagcacccct ttgtccctgg aggccctcct cccatcaccc ctccgacctg
     3781 cccctccacc tctaccccac cggcgggacc tggcacctcg gcccagccac cctgctctgg
     3841 tgcggcggct tcaggaggca gcatagcggg ggggtcgtcc tgcccactcc ccaccgtcca
     3901 gatcaaggag gaggctctgg acgacgctga ggagcctgag agcccccctc ccccaccaag
     3961 gagcccgtcc ccggagccca ctgtggtgga cacccccagt cacgccagcc agtcagctag
     4021 gttctacaaa cacctggacc ggggctacaa ctcgtgtgcc cggacagacc tgtacttcat
     4081 gcctctggcc gggtccaagc tggccaagaa gagggaggag gccattgaga aggccaagcg
     4141 cgaggctgag cagaaagccc gagaggagcg agagcgggag aaggagaagg agaaggagcg
     4201 ggagcgggag cgagagcggg agcgcgaggc agagcgggcg gctaaggcgt ccagctcagc
     4261 gcatgaaggt cgcctcagtg acccacagct cagtggtcct ggccacatgc ggccatcctt
     4321 cgagccacca ccaaccacca ttgctgctgt gcccccctac atcgggcccg acacacctgc
     4381 ccttcggact ctgagcgagt acgcccggcc ccacgtcatg tcgcccacca accgcaacca
     4441 ccccttctac atgcccctta accccacgga ccccctgctg gcctaccaca tgcctggcct
     4501 ctacaacgtc gaccccacca tccgcgagcg ggagctccgg gagcgggaga tccgagagcg
     4561 ggagatccga gagcgggagc tgcgggagag gatgaagccg ggcttcgagg tgaagccccc
     4621 agagctggac cccctgcacc cagccgccaa ccccatggag cactttgccc ggcacagcgc
     4681 cctcaccatc cccccgaccg ccgggcccca cccttttgct tctttccacc cgggcctgaa
     4741 ccccttggag agggagagac tggccctggc gggcccccag ctgcggcccg agatgagcta
     4801 ccctgacaga ctggcagccg agcgtatcca cgcagagcgc atggcatcgc tgaccagcga
     4861 tcccctggcc cgactgcaga tgttcaacgt gactccgcac catcaccagc actctcacat
     4921 tcactcccac ctccacctcc accagcagga ccccctccac caaggttcag caggccccgt
     4981 tcacccgctg gtcgaccccc tgactgccgg tccccacctg gctcgcttcc cctacccgcc
     5041 tggcactctc cccaaccctc tgcttggaca gcccccacac gagcacgaga tgcttcgcca
     5101 cccagttttc ggcaccccct acccccgtga cctgcctggg gccatcccac cccccatgtc
     5161 agcagcccac cagctgcagg ccatgcatgc ccagtcggcc gagctgcaga gactggccat
     5221 ggagcagcag tggctgcatg gacaccccca catgcatggt ggccacctac caagtcagga
     5281 agattattac agtcgactga agaaagaagg tgacaagcag ttataagtta tttatttgtt
     5341 aacgctggct gtggaaaccc cagttcttgg ggggagaaac aggacttttt acataaaata
     5401 ggagctgcaa aagcaaaaag aatatcttct aaagatttct ttatatattt aaaaacccac
     5461 aactaaaaat gtatccacat agtagtgttc gtttgtcgag aggatttcct gagactggtt
     5521 tggatctccc tgcatgacag tcccccagaa acttagtgag tcctggactg gactgaacat
     5581 ccagaaagct tccctgcaat cttggggttt ggctttagtt ttcttttcct tgatttctca
     5641 gtaggtgcta gaatccagtt cacacccttc actgtgcgtg cagacacact gacacactcc
     5701 gccacgagtg ctccagagcc cacgaggctt gcagatcggg ggcataggaa tttggaatcc
     5761 aagagctata atttttaaaa aaaaaaatct tttattttaa tacattgtag gaaatcttca
     5821 taattggaga aagttctgca gcatggcttt ttacgtctgt aaataaataa ttttagaaca
     5881 gccttttttt cttccataaa ctactattgt gatctatttt ttccagccat gtcactaatt
     5941 gtgaattcct accaactatt gacagaatac agagttgatt ttttaataaa aagttatata
     6001 taattatccc tttaattaaa gggagcaaag gggcgttcca catggacaga ggcttggacc
     6061 gaggcctggt cacagcagcg agcatccagg gtttgcaggg acgatgttac agactctgtt
     6121 ttctgcctgg cgtttcactt gtgtctgctc ctagcctgtg ctctgccagc agcacagaca
     6181 tctgctccat cagacctctt ccattttgca cagggagtgc aggaggtgaa tgttcacttt
     6241 ctgttctcca gtgtcactgt tctgtttcca cgggatggaa agcgcatggg cctgtgtcca
     6301 ttgtagattt ccttctagat ttctgtgtac acacacttga ttgttctgga tgaatgtctt
     6361 ttttaatact ccgaaaattt catcatctaa gaaaatgatt ccatacaaat aactcagcac
     6421 acaagtgacc caggacatat gcctgccaaa gggatgtgtt agaaggctgc cttctcatgc
     6481 gcattgtcac ttggatcttg tggtgaggac ggccccatct ttcttgccac agattgaggc
     6541 cacttttgag caagggagat cctggagtta agacaggtgt tgggggcagc ctgtatttta
     6601 ccctaggggc aggtctgcat ggtgacccca cattgcactg gtaaaccatt tgagtcccac
     6661 tcttcatcct ggaagtggga actggagtcc cacccacagt gcattcagaa agcatgctgt
     6721 gtgggggctg cttctcagga ggccaggccc ttctgagcgg aaccgtcctg gagagagcct
     6781 gccctcgttt ccaggctgca gccgtaacgc actttctccc aggctgaggg cgggtgttct
     6841 ggggtgtctg ccctctgtcg gccctgcttc ctgccaggac gtggcctctt ccgatccttt
     6901 tctctcagac actggaggtc tcttctgcca ttgtgctggt cccatcccaa gaattgtagg
     6961 acagagacca cactgggtcg gcggacacaa agtccatcca ggacccaggc cgcagaggga
     7021 gcaggaagag atgctgatag tttgatctag aaaccagcag ctactggctc aaattcaggt
     7081 tctggcgtca aatagcgaca tttccagttt ctcttaaaaa ccgtgtttgg tttcagttgg
     7141 gataggcttg ttttgtctgt tgaaaatgtt tctagttttt tttctttcat ttttctctca
     7201 ttccatttct gccttaactt tagtttgttc acagggaggc aaagctgaca tgaacctttt
     7261 gtcgtgggac ttcaggccac attggcttga aggcattcgt ttccttctgg ggtggggaca
     7321 ggccctcatg gcaggcttgt tcccgtggct ctgagcgagg cctcttcctg ctgggctccc
     7381 agactcctgc atccaggccc ccaccttctc ggcttctggt ttttctttct ttttggtaga
     7441 acacaacatc taccattcag ttaaaccttc tttatctcct cctttggcat ccatttttcc
     7501 aaagaagagt cgagtcctct gaggtctgtg cttgaaagcc gtccgaaggc attcttgtta
     7561 gctttgcttt tctccccata tcccaaggcg aagcgctgag attcttccat ctaaaaaacc
     7621 ctcgacccga aaccctcacc agataaacta cagtttgttt aggaggccct gaccttcatg
     7681 gtgtctttga agcccaacca ctcggtttcc ttcggatttt cctccctttg ttcggggttt
     7741 ggtttggctc ctctgtgtgt gtccgtatct tgttcggtgt cctcgaggtt gagcttcact
     7801 ccactgcggc agaggcagcg tgcacactcg gatttgctac gtttctatat atcttgaagc
     7861 taaatgtata tatgagtagt ttgccatgag ataacacagt gtaaacagta gacacccaga
     7921 aatcgtgact tctgtgttct ctccatttga gtattttgta atttttttga aatatttgtg
     7981 gacataaata aaaccaagct acactacaa
//
LOCUS       NM_001042683            7596 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH),
            transcript variant 1, mRNA.
ACCESSION   NM_001042683
VERSION     NM_001042683.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7596)
  AUTHORS   Chen W, Zhong M, Yu J, Xie R, Zhou T, Zhang S, Xiong C and Huang D.
  TITLE     KMT2B promotes SHPRH expression to regulate 131I sensitivity in
            thyroid carcinoma cells by affecting FYN protein stability
  JOURNAL   Cell Signal 88, 110165 (2021)
   PUBMED   34606908
  REMARK    GeneRIF: KMT2B promotes SHPRH expression to regulate (131)I
            sensitivity in thyroid carcinoma cells by affecting FYN protein
            stability.
REFERENCE   2  (bases 1 to 7596)
  AUTHORS   Seelinger M, Sogaard CK and Otterlei M.
  TITLE     The Human RAD5 Homologs, HLTF and SHPRH, Have Separate Functions in
            DNA Damage Tolerance Dependent on The DNA Lesion Type
  JOURNAL   Biomolecules 10 (3), 463 (2020)
   PUBMED   32192191
  REMARK    GeneRIF: The Human RAD5 Homologs, HLTF and SHPRH, Have Separate
            Functions in DNA Damage Tolerance Dependent on The DNA Lesion Type.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 7596)
  AUTHORS   Seelinger M and Otterlei M.
  TITLE     Helicase-Like Transcription Factor HLTF and E3 Ubiquitin Ligase
            SHPRH Confer DNA Damage Tolerance through Direct Interactions with
            Proliferating Cell Nuclear Antigen (PCNA)
  JOURNAL   Int J Mol Sci 21 (3), 693 (2020)
   PUBMED   31973093
  REMARK    GeneRIF: Helicase-Like Transcription Factor HLTF and E3 Ubiquitin
            Ligase SHPRH Confer DNA Damage Tolerance through Direct Interactions
            with Proliferating Cell Nuclear Antigen (PCNA). Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 7596)
  AUTHORS   Su Y, Xu C, Liu Y, Hu Y and Wu H.
  TITLE     Circular RNA hsa_circ_0001649 inhibits hepatocellular carcinoma
            progression via multiple miRNAs sponge
  JOURNAL   Aging (Albany NY) 11 (10), 3362-3375 (2019)
   PUBMED   31137016
  REMARK    GeneRIF: circ-0001649 regulated behaviors of hepatocellular
            carcinoma cells by targeting SHPRH; circ-0001649 served as a ceRNA
            to sponge miR-127-5p, miR-612 and miR-4688, thus activating SHPRH
REFERENCE   5  (bases 1 to 7596)
  AUTHORS   Zhang M, Huang N, Yang X, Luo J, Yan S, Xiao F, Chen W, Gao X, Zhao
            K, Zhou H, Li Z, Ming L, Xie B and Zhang N.
  TITLE     A novel protein encoded by the circular form of the SHPRH gene
            suppresses glioma tumorigenesis
  JOURNAL   Oncogene 37 (13), 1805-1814 (2018)
   PUBMED   29343848
  REMARK    GeneRIF: A novel perspective regarding circRNA function in
            physiological and pathological processes: specifically, SHPRH-146aa
            generated from overlapping genetic codes of circ-SHPRH is a tumor
            suppressor in human glioblastoma.
REFERENCE   6  (bases 1 to 7596)
  AUTHORS   Lin JR, Zeman MK, Chen JY, Yee MC and Cimprich KA.
  TITLE     SHPRH and HLTF act in a damage-specific manner to coordinate
            different forms of postreplication repair and prevent mutagenesis
  JOURNAL   Mol Cell 42 (2), 237-249 (2011)
   PUBMED   21396873
  REMARK    GeneRIF: HLTF and SHPRH suppress mutagenesis in a damage-specific
            manner, preventing mutations induced by UV rays and methyl
            methanesulfonate.
REFERENCE   7  (bases 1 to 7596)
  AUTHORS   Motegi A, Liaw HJ, Lee KY, Roest HP, Maas A, Wu X, Moinova H,
            Markowitz SD, Ding H, Hoeijmakers JH and Myung K.
  TITLE     Polyubiquitination of proliferating cell nuclear antigen by HLTF and
            SHPRH prevents genomic instability from stalled replication forks
  JOURNAL   Proc Natl Acad Sci U S A 105 (34), 12411-12416 (2008)
   PUBMED   18719106
  REMARK    GeneRIF: HLTF and SHPRH are functional homologues of yeast Rad5 that
            cooperatively mediate PCNA polyubiquitination and maintain genomic
            stability.
REFERENCE   8  (bases 1 to 7596)
  AUTHORS   Motegi A, Sood R, Moinova H, Markowitz SD, Liu PP and Myung K.
  TITLE     Human SHPRH suppresses genomic instability through proliferating
            cell nuclear antigen polyubiquitination
  JOURNAL   J Cell Biol 175 (5), 703-708 (2006)
   PUBMED   17130289
  REMARK    GeneRIF: We report that a putative tumor suppressor gene, SHPRH, is
            a human orthologue of yeast RAD5.The yRad5/SHPRH-dependent pathway
            is a conserved and fundamental DNA repair mechanism that protects
            the genome from genotoxic stress.
REFERENCE   9  (bases 1 to 7596)
  AUTHORS   Unk I, Hajdu I, Fatyol K, Szakal B, Blastyak A, Bermudez V, Hurwitz
            J, Prakash L, Prakash S and Haracska L.
  TITLE     Human SHPRH is a ubiquitin ligase for Mms2-Ubc13-dependent
            polyubiquitylation of proliferating cell nuclear antigen
  JOURNAL   Proc Natl Acad Sci U S A 103 (48), 18107-18112 (2006)
   PUBMED   17108083
  REMARK    GeneRIF: SHPRH function is an important deterrent to mutagenesis and
            carcinogenesis in humans
REFERENCE   10  (bases 1 to 7596)
  AUTHORS   Sood R, Makalowska I, Galdzicki M, Hu P, Eddings E, Robbins CM,
            Moses T, Namkoong J, Chen S and Trent JM.
  TITLE     Cloning and characterization of a novel gene, SHPRH, encoding a
            conserved putative protein with SNF2/helicase and PHD-finger domains
            from the 6q24 region
  JOURNAL   Genomics 82 (2), 153-161 (2003)
   PUBMED   12837266
  REMARK    GeneRIF: SHPRH maps to 6q24 and is a possible candidate for the
            tumor suppressor gene reported from that region.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC117686.1, AY161136.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000275233.12/ ENSP00000275233.7
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL451145.15, AY163808.1, AY161136.1, BC117686.1, AK126959.1,
            AA315737.1 and BX648322.1.
            On Nov 22, 2018 this sequence version replaced NM_001042683.2.
            Summary: SHPRH is a ubiquitously expressed protein that contains
            motifs characteristics of several DNA repair proteins,
            transcription factors, and helicases. SHPRH is a functional homolog
            of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed
            17108083]).[supplied by OMIM, Mar 2008].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7596
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q24.3"
     gene            1..7596
                     /gene="SHPRH"
                     /gene_synonym="bA545I5.2; RAD5"
                     /note="SNF2 histone linker PHD RING helicase"
                     /db_xref="GeneID:257218"
                     /db_xref="HGNC:HGNC:19336"
                     /db_xref="MIM:608048"
     misc_feature    622..624
                     /gene="SHPRH"
                     /gene_synonym="bA545I5.2; RAD5"
                     /note="upstream in-frame stop codon"
     CDS             661..5712
                     /gene="SHPRH"
                     /gene_synonym="bA545I5.2; RAD5"
                     /EC_number="2.3.2.27"
                     /note="isoform a is encoded by transcript variant 1;
                     2610103K11Rik; E3 ubiquitin-protein ligase SHPRH; SNF2,
                     histone-linker, PHD and RING finger domain-containing
                     helicase; SNF2 histone linker PHD RING helicase, E3
                     ubiquitin protein ligase; RING-type E3 ubiquitin
                     transferase SHPRH"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase SHPRH isoform a"
                     /protein_id="NP_001036148.2"
                     /db_xref="CCDS:CCDS43513.2"
                     /db_xref="GeneID:257218"
                     /db_xref="HGNC:HGNC:19336"
                     /db_xref="MIM:608048"
                     /translation="MSSRRKRAPPVRVDEEKRQQLHWNMHEDRRNEPIIISDDDEQPCP
                     GSDTSSAHYIILSDSLKEEVAHRDKKRCSKVVSFSKPIEKEETVGIFSPLSVKLNIVIS
                     PYHFDNSWKAFLGELTLQLLPAQSLIENFSERSITLMSSESSNQFLIYVHSKGEDVEKQ
                     KKEPMSICDKGILVESSFSGEMLEDLGWLQKKRRIKLYQKPEGNHIIKVGIYLLEAGLA
                     KLDFLSDANSRMKKFNQLMKKVMEKLHNSIIPDVLEEDEDDPESEPEGQDIDELYHFVK
                     QTHQQETQSIQVDVQHPALIPVLRPYQREAVNWMLQQECFRSSPATESALHFLWREIVT
                     SEGLKLYYNPYTGCIIREYPNSGPQLLGGILADEMGLGKTVEVLALILTHTRQDVKQDA
                     LTLPEGKVVNYFIPSHYFGGKLKKTEIQNIEFEPKEKVQCPPTRVMILTAVKEMNGKKG
                     VSILSIYKYVSSIYRYDVQRNRSLLKRMLKCLIFEGLVKQIKGHGFSGTFTLGKNYKEE
                     DICDKTKKQAVGSPRKIQKETRKSGNKDTDSEYLPSDTSDDDDDPYYYYYKSRRNRSKL
                     RKKLVPSTKKGKSQPFINPDSQGHCPATSDSGITDVAMSKSTCISEFNQEHETEDCAES
                     LNHADSDVPPSNTMSPFNTSDYRFECICGELDQIDRKPRVQCLKCHLWQHAKCVNYDEK
                     NLKIKPFYCPHCLVAMEPVSTRATLIISPSSICHQWVDEINRHVRSSSLRVLVYQGVKK
                     DGFLQPHFLAEQDIVIITYDVLRSELNYVDIPHSNSEDGRRLRNQKRYMAIPSPLVAVE
                     WWRICLDEAQMVECPTVKAAEMAQRLSGINRWCISGTPVQRGLEDLFGLVVFLGIEPYC
                     VKHWWVRLLYRPYCKKNPQHLYSFIAKILWRSAKKDVIDQIQIPPQTEEIHWLHFSPVE
                     RHFYHRQHEVCCQDVVVKLRKISDWALKLSSLDRRTVTSILYPLLRLRQACCHPQAVRG
                     EFLPLQKSTMTMEELLTSLQKKCGTECEEAHRQLVCALNGLAGIHIIKGEYALAAELYR
                     EVLRSSEEHKGKLKTDSLQRLHATHNLMELLIARHPGIPPTLRDGRLEEEAKQLREHYM
                     SKCNTEVAEAQQALYPVQQTIHELQRKIHSNSPWWLNVIHRAIEFTIDEELVQRVRNEI
                     TSNYKQQTGKLSMSEKFRDCRGLQFLLTTQMEELNKCQKLVREAVKNLEGPPSRNVIES
                     ATVCHLRPARLPLNCCVFCKADELFTEYESKLFSNTVKGQTAIFEEMIEDEEGLVDDRA
                     PTTTRGLWAISETERSMKAILSFAKSHRFDVEFVDEGSTSMDLFEAWKKEYKLLHEYWM
                     ALRNRVSAVDELAMATERLRVRDPREPKPNPPVLHIIEPHEVEQNRIKLLNDKAVATSQ
                     LQKKLGQLLYLTNLEKSQDKTSGGVNPEPCPICARQLGKQWAVLTCGHCFCNECISIII
                     EQYSVGSHRSSIKCAICRQTTSHKEISYVFTSEKANQEEDIPVKGSHSTKVEAVVRTLM
                     KIQLRDPGAKALVFSTWQDVLDIISKALTDNNMEFAQISRVKTFQENLSAFKRDPQINI
                     LLLPLHTGSNGLTIIEATHVLLVEPILNPAHELQAIGRVHRIGQTKPTIVHRFLIKATI
                     EERMQAMLKTAERSHTNSSAKHSEASVLTVADLADLFTKETEELE"
     misc_feature    661..789
                     /gene="SHPRH"
                     /gene_synonym="bA545I5.2; RAD5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149N8.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1456..1458
                     /gene="SHPRH"
                     /gene_synonym="bA545I5.2; RAD5"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q149N8.2); phosphorylation site"
     misc_feature    2233..2481
                     /gene="SHPRH"
                     /gene_synonym="bA545I5.2; RAD5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149N8.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2563..2565
                     /gene="SHPRH"
                     /gene_synonym="bA545I5.2; RAD5"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7TPQ3; propagated from
                     UniProtKB/Swiss-Prot (Q149N8.2); phosphorylation site"
     misc_feature    3115..3126
                     /gene="SHPRH"
                     /gene_synonym="bA545I5.2; RAD5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q149N8.2);
                     Region: DEAQ box"
     regulatory      7571..7576
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHPRH"
                     /gene_synonym="bA545I5.2; RAD5"
                     /note="hexamer: AATAAA"
     polyA_site      7596
                     /gene="SHPRH"
                     /gene_synonym="bA545I5.2; RAD5"
                     /note="major polyA site"
ORIGIN
        1 acgctacagc gcgcgcccgg cagctaggcg ctgtggtttc tgggtctccc gggggacccc
       61 tacacgttcc ggcaaaaagc gctcgtgccc acctcaagcc catgttcggt gggtggcgaa
      121 tgcgtgcccg tgatctgctg ggtctgtaga ggagcgcagg cctggtgcaa acagactcaa
      181 gaggctcgga gaaccagctt gggtaggcgc ttgggtgatg gaaggtcagg ggtcagaggt
      241 cgggagggag ggagggaggt ggtctttggc ctccgggacc agggagggag gacgctggtt
      301 gtcctggagc ccgggaagct caagggctga gagggagccg ctgcgcgagt cttccccacc
      361 tcttcccgat cccggactag cgaacttcgg accaccacgt ccctccgggg ataaagtggg
      421 gtcgtgggaa aggaggctgt gcttctcctc atgcactggg gcctgcggtg tttgtctcga
      481 gcgtccaaca cactaggatc cgggagtccg tcgtcacgct ccttggcctc gcggtcgctt
      541 gtttgctcgg cctgctggga gcgatccggc gctgacagcc ccgctcagac tccgggagcc
      601 gcttgtgggt ctttcggaag ataactgaag ttcacagtta ccagccaaga aaacttgaaa
      661 atgagcagcc gacggaaacg tgctcctcca gtgagggtag atgaggaaaa gaggcagcag
      721 cttcattgga atatgcatga ggacagaagg aatgaaccta tcatcataag tgatgatgac
      781 gagcagccct gcccaggttc agatacctct tctgctcatt atatcattct aagtgatagt
      841 ctaaaggaag aagtggctca cagagataag aagaggtgtt caaaagtggt gagcttctca
      901 aaaccaattg aaaaagaaga gactgttggt attttttccc ctttgtctgt aaagttaaat
      961 attgtgattt ctccctatca ttttgataat tcctggaaag catttctagg agaattaact
     1021 cttcagcttc ttcctgcaca gagtttaatt gaaaattttt ccgaaaggag tattacattg
     1081 atgagttcag agtcaagcaa tcagttcctg atttatgttc attcaaaagg tgaagatgta
     1141 gagaaacaaa aaaaagaacc gatgagtatt tgtgacaagg gtattctggt ggagtcatcc
     1201 ttcagtggtg aaatgttaga agatttgggg tggctacaaa agaagagaag aataaaactc
     1261 tatcagaaac cagaaggaaa tcacattatc aaggttggaa tttatctttt ggaagctggc
     1321 ctagcaaaac tagacttctt gagtgatgca aattcaagaa tgaaaaagtt caatcagctc
     1381 atgaagaaag taatggaaaa gttacacaat tctattattc cagatgtgtt ggaagaggat
     1441 gaagatgatc cggagagtga gccagaggga caagacattg acgagctgta tcactttgtg
     1501 aaacaaacac atcagcaaga aacgcagtcc atccaagtgg atgtccagca tcctgcattg
     1561 atccctgtgt tgagacccta ccaaagagag gctgtcaatt ggatgctaca acaagagtgt
     1621 ttcagaagca gtcctgctac tgaaagtgcc ctgcacttct tatggcgaga gattgttaca
     1681 tctgagggtc tgaaactcta ctataatcca tatacaggct gcatcattcg tgagtaccca
     1741 aattctgggc cgcagttgct tggtggaatt ttagcagatg agatgggtct tggaaagaca
     1801 gtggaggttt tggctctgat tctgacacat actcgacaag atgtcaagca agatgctctc
     1861 actcttcccg agggaaaagt ggtgaattat tttattccgt cacattattt tggaggaaaa
     1921 ctgaaaaaga cagaaatcca gaatatcgaa tttgaaccaa aagaaaaagt tcaatgccct
     1981 cctacacgtg tgatgatact gacagctgtg aaagaaatga atggaaaaaa aggagtgtcc
     2041 atcctttcca tctataagta tgtcagttct atatatagat acgatgttca acggaacagg
     2101 agtcttttga aacggatgct gaaatgttta atttttgaag gtctcgtgaa acagatcaaa
     2161 ggccatggtt tttctgggac ttttacattg ggaaagaatt acaaggaaga ggatatatgt
     2221 gataaaacaa aaaagcaggc agtagggagt ccaaggaaaa ttcagaaaga aactagaaaa
     2281 tcagggaaca aggacacaga ttctgaatac ttgccatcag acacctctga tgatgatgat
     2341 gatccttact attattatta taagtccagg agaaatcgca gtaaattgag gaaaaagctt
     2401 gttccatcca caaaaaaagg aaaaagtcaa ccatttatca atcccgattc acaaggtcac
     2461 tgtccagcta ctagcgactc tggaataact gatgttgcta tgtctaaaag tacatgtatc
     2521 tctgaattca accaagaaca tgaaacagag gactgtgctg aatctctaaa tcatgctgat
     2581 agtgatgtac caccttctaa taccatgagt ccctttaaca cctctgatta ccgctttgag
     2641 tgtatatgtg gtgaacttga tcagatagat cgtaagcctc gtgttcaatg cctgaagtgt
     2701 cacctgtggc aacatgcaaa gtgtgtgaat tatgatgaga aaaatctgaa gatcaagcct
     2761 ttttactgcc cccactgcct tgttgcaatg gaaccagtgt caacaagagc aactctgatc
     2821 atctctccaa gttccatctg tcaccagtgg gtggatgaga tcaacaggca tgtgaggtcg
     2881 tcatctcttc gagtcttggt atatcaagga gtgaagaaag atggcttttt acaacctcat
     2941 tttttggcag aacaggatat agttatcatt acctatgatg tactgcgttc agaattaaat
     3001 tatgtcgata tcccacatag caatagtgag gatgggcgtc gcctacggaa ccagaagcgc
     3061 tatatggcta tcccgagccc cctggtagct gtggagtggt ggaggatctg ccttgatgaa
     3121 gctcagatgg ttgagtgtcc cacagtaaaa gctgcagaaa tggcccagcg tttgagtggg
     3181 attaatcgat ggtgtatcag tggcactcca gtacagagag gattagagga tctttttggg
     3241 ttagtggtct ttcttggtat tgaaccttac tgtgtcaaac actggtgggt tcgacttctc
     3301 tatcggcctt actgcaagaa gaatcctcag catctctaca gctttattgc caagatactg
     3361 tggaggtctg caaagaaaga tgtgattgac caaatccaaa taccaccaca aaccgaagaa
     3421 atacactggc tccacttttc tccagtggaa aggcatttct atcaccgtca gcatgaggtg
     3481 tgctgccagg atgtggtggt aaaactcagg aagatttctg actgggctct gaagctcagc
     3541 agcctagaca gaaggactgt cacctctatc ctgtatccat tgctgaggct cagacaggcc
     3601 tgctgtcacc cacaggctgt tcgtggagag ttcttgccac tccaaaaaag caccatgaca
     3661 atggaagagc tgctgacatc tttgcagaag aaatgtggaa ctgaatgtga agaagcacat
     3721 cgacagctag tttgtgctct caatggctta gcaggcattc atattattaa aggtgagtat
     3781 gccttggcag cagaattgta cagagaagtg ttgcgctcct cggaggaaca caaaggaaaa
     3841 ctcaaaactg attcacttca aagacttcat gctacccata acttgatgga attgttgata
     3901 gccaggcacc cagggatacc acctaccttg cgtgatggcc gacttgagga agaggccaaa
     3961 cagctgcgag agcactacat gagcaagtgt aatacagaag ttgctgaagc ccagcaagct
     4021 ttatatcctg tgcagcagac catccatgag cttcaaagaa agattcattc taattctcct
     4081 tggtggctaa atgtgatcca cagagcaata gaatttacta ttgatgagga gctagttcag
     4141 cgagtgcgaa atgaaataac cagcaactac aagcaacaaa ctggcaagct ttctatgtca
     4201 gagaagttcc gtgattgcag aggtcttcag ttcttactta caacacaaat ggaagagcta
     4261 aataaatgcc agaagctagt aagagaggct gtaaaaaacc tggagggacc tccatctcgt
     4321 aatgttattg agtctgcaac agtctgtcac ctccgaccag ccagacttcc tctcaactgc
     4381 tgtgtctttt gtaaagctga tgaattgttc acagagtatg aatcaaagct attttccaac
     4441 acagtcaaag gccagactgc aatatttgag gagatgatag aagatgaaga aggactggtg
     4501 gatgatcgag cacctaccac cacccggggt ctctgggcaa taagtgagac agagcgatct
     4561 atgaaagcaa tactatcatt tgcaaaatca cataggtttg atgttgaatt tgttgatgaa
     4621 ggaagcactt caatggatct ctttgaagca tggaagaagg aatataagtt gcttcatgaa
     4681 tattggatgg ctctgaggaa tcgtgtgtct gctgttgatg aacttgcaat ggctacagaa
     4741 cgactaagag tgcgtgatcc tagggagcca aagcctaatc cgcctgttct tcatatcatt
     4801 gaaccacatg aggtagaaca aaaccgaata aaactactaa atgataaagc tgttgctaca
     4861 tcacagcttc agaaaaaact tgggcagctt ctttacctaa ctaatttgga gaagtctcaa
     4921 gataaaacat cgggaggtgt taatccagaa ccttgcccaa tctgtgctcg acagctagga
     4981 aaacagtggg cggtactgac ctgtggtcac tgtttctgta atgaatgcat ttctataatt
     5041 attgaacaat acagcgtggg atctcacaga agctccatta agtgtgcaat ctgccgccag
     5101 accacatctc acaaagaaat ctcgtatgtc tttacctcag agaaagcaaa ccaggaggag
     5161 gacatccctg tgaagggcag ccattctaca aaagtggaag ctgtggtcag aactctgatg
     5221 aaaatacagc ttagagatcc aggggccaaa gcactcgttt tctcaacgtg gcaagatgta
     5281 ttagatatta tttcaaaagc tcttactgac aacaacatgg aatttgcaca aatcagtcgt
     5341 gttaagacat ttcaggagaa cctttcagca tttaaacgtg atccccaaat caatattttg
     5401 ctgctgcccc tgcacacagg ttctaatgga ttaactatca ttgaagcaac tcatgttctc
     5461 ttggtggagc ccatattgaa ccctgcccat gagcttcagg ccatagggag ggtgcaccga
     5521 attggacaga caaaacctac tattgtacac agattcttaa ttaaagcaac aatagaagaa
     5581 agaatgcagg caatgctgaa aactgctgag agaagtcaca cgaactcatc agcaaagcat
     5641 tcagaggcct ctgtcttgac tgtggctgac ctggcagacc tatttaccaa agaaactgaa
     5701 gagcttgaat gaactacact tgattcattc catggacttt agtgtattaa taaactttca
     5761 tagctgtaga gcaaagttac aagttttaaa aacccagtag ataacagtaa cactgttcct
     5821 agttgaatga atttgtttat tgttctggtt atacagtggc ttagtactta ttgagtcctt
     5881 ttcaatatac tgtttccaaa agatctataa agattcttaa ttttacactc ctaataaaac
     5941 atttattttt tgtcccaaat agtatctata tctgatgatg caagggaatt aagagaggta
     6001 atgtgtactt ttcttatgat aagatcactc ataaaacagt tggaataaga aagtaaacta
     6061 gtctagtttt atatgacctg gtatattgaa caaacataga tctcagtttt ggaagggcct
     6121 tcagtatctt tagcacatga ttcaccaata tcttgttagt aatattttaa gtagatggtg
     6181 aattatatta acccattttt tgagtaggct tataccataa ctttacacct agtaattttg
     6241 cagtaataca actccttaca ataagttaat gttagacagt tatttgtttc ttctgcatct
     6301 tgctactgaa aacaaaaaca atgaaaatat tcatatttct attatgtgta aagtggtgtt
     6361 agtgtaaaca gttaactcca aatagatttt ttaatgtatt aatgattacc ttaaaattat
     6421 ctgctttccc tactcttaat ttttcttatt gttaaagttt ttatatgttg taagattgat
     6481 gtatctgtaa atattgcagt ttttatgatt ttgttttatt ataacatgga aatatggcag
     6541 ggtttttttt ttaatcatta ttatactgat gtcttggatt ctttttcttt cccatgttct
     6601 tgtgtaacta gactttttag ccagtgatat ctgaattcat ggtagagttg ttatttcact
     6661 ccagttgttc ctcccttaag cacgagtctt tgaccttttg aacaagagaa tgccatgttc
     6721 acataagcaa atcgttgcaa gtgataataa cgaagtgttt cttcttctgt gaggaattaa
     6781 tggactttga aattgctgaa taaggagtag cttgttacat cctagccatt tgatgtaata
     6841 caaatgttct tatttggctt ccttttcttt gagccttcag agttttaaag gaccctcttt
     6901 gaccctcagg acttattagc tcccagttag ctgcctggaa aactcataga accattccct
     6961 agatcccatt tgtccgagag gctttggtgc ttagttaagg tgcattttct tactctaggt
     7021 ttatagagtg atgtaattca actgaagaaa acacacacat gcttttggtg cttattcttc
     7081 agttaaaagg aggtatccat tgattctttt atatgaaatt aaatcaaact gttattttta
     7141 tagctcttca catattaaaa agagctttca tgtacattta cgtgtttaat ttacccaaca
     7201 atcttgtgaa gttgatataa ttaatatctt tactgtttta aaggtagaga actgaagttc
     7261 agatatattg aaactttctt aggacatgta gcaagtaaac agtggagccc aggtcccctg
     7321 actccatatc ttacattctt ttactaataa catgtcatgc tgagattcag aaggcccatg
     7381 cttataattt aaaaatgaga ctatttcagt atttctttgt gtttgttttc tactattcct
     7441 ttctgagcta tgttttagag aaaacaattt gatatgcttc aattttgtaa aatcaaatta
     7501 catatatata aaaaaaccta tctgtattag acaaaaactg tttttattta tttctgtaag
     7561 atatccatta aataaatatt ttagtggaaa tgaaaa
//
LOCUS       NM_001042690            1549 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens Myb/SANT DNA binding domain containing 1 (MSANTD1),
            transcript variant 1, mRNA.
ACCESSION   NM_001042690
VERSION     NM_001042690.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1549)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000438480.7/ ENSP00000411584.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL390059.10 and BC043530.1.
            On Nov 23, 2018 this sequence version replaced NM_001042690.1.
            Transcript Variant: This variant encodes the longer isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1549
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..1549
                     /gene="MSANTD1"
                     /gene_synonym="C4orf44"
                     /note="Myb/SANT DNA binding domain containing 1"
                     /db_xref="GeneID:345222"
                     /db_xref="HGNC:HGNC:33741"
     CDS             65..901
                     /gene="MSANTD1"
                     /gene_synonym="C4orf44"
                     /note="isoform 1 is encoded by transcript variant 1;
                     myb/SANT-like DNA-binding domain-containing protein 1;
                     Myb/SANT-like DNA-binding domain containing 1"
                     /codon_start=1
                     /product="myb/SANT-like DNA-binding domain-containing
                     protein 1 isoform 1"
                     /protein_id="NP_001036155.1"
                     /db_xref="CCDS:CCDS47003.1"
                     /db_xref="GeneID:345222"
                     /db_xref="HGNC:HGNC:33741"
                     /translation="MVRGAGPGPSLSALSHPTGASGMAAAEGPGYLVSPQAEKHRRARN
                     WTDAEMRGLMLVWEEFFDELKQTKRNAKVYEKMASKLFEMTGERRLGEEIKIKITNMTF
                     QYRKLKCMTDSESAPPDWPYYLAIDGILAKVPESCDGKLPDSQPPGPSTSQTEASLSPP
                     AKSTPLYFPYNQCSYEGRFEDDRSDSSSSLLSLKFRSEERPVKKRKVQSCHLQKKQLRL
                     LEAMVEEQRRLSRAVEETCREVRRVLDQQHILQVQSLQLQERMMSLLERIITKSSV"
     misc_feature    65..145
                     /gene="MSANTD1"
                     /gene_synonym="C4orf44"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZTZ1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    476..568
                     /gene="MSANTD1"
                     /gene_synonym="C4orf44"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZTZ1.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1221..1226
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSANTD1"
                     /gene_synonym="C4orf44"
                     /note="hexamer: ATTAAA"
     polyA_site      1240
                     /gene="MSANTD1"
                     /gene_synonym="C4orf44"
                     /note="major polyA site"
     regulatory      1520..1525
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSANTD1"
                     /gene_synonym="C4orf44"
                     /note="hexamer: AATAAA"
     polyA_site      1549
                     /gene="MSANTD1"
                     /gene_synonym="C4orf44"
                     /note="major polyA site"
ORIGIN
        1 agatgtaggc cccattttga gcgtggagct gccttcgagc gagcgtgagc ggcgcctccc
       61 gcccatggtg cgtggggccg ggccggggcc ctcgctgagc gcgctctctc accccacagg
      121 cgcctccggc atggcggcgg ccgaggggcc cggctacctc gtgtctcccc aggcggagaa
      181 gcaccggcgg gcccgcaact ggacggacgc cgagatgcgc ggcctcatgc tggtctggga
      241 ggagttcttc gacgagctca agcagaccaa gcgcaacgcc aaggtgtacg agaagatggc
      301 cagcaagctc ttcgagatga ccggcgagcg caggctgggc gaggagatca agatcaagat
      361 caccaacatg accttccagt acaggaaatt aaaatgcatg acagatagcg agtccgcccc
      421 gcccgactgg ccctattacc tagccattga tgggattctg gccaaggtcc ccgagtcctg
      481 tgatggcaaa ctgccggaca gccagccgcc ggggccctcc acgtcccaga ccgaggcgtc
      541 cctgtcgccg cccgctaagt ccacccctct gtacttcccg tataaccagt gctcctacga
      601 aggccgcttc gaggatgatc gctccgacag ctcctccagc ttactgtccc ttaagttcag
      661 gtcggaggag cggccggtga agaagcgcaa ggtgcagagc tgccacctgc agaagaagca
      721 gctgcggctg ctggaggcca tggtggagga gcagcgccgg ctgagccgcg ccgtggagga
      781 gacctgccgc gaggtgcgcc gcgtgctgga ccagcagcac atcctgcagg tgcagagcct
      841 gcagctgcag gagcgcatga tgagtctgct ggagaggatc atcaccaagt ccagcgtcta
      901 ggccagcagg cggcggcggc ggcggggccg ggcggctggt ggtactgctc aggccaccca
      961 gggcaggcca ctcaggccag gcgggcaagg gggccgcccc gcgagcggag accgccttcc
     1021 acctggcctc tggcaggatg tcccttctga ggggtatttt gaggaacccc caggccctgg
     1081 ggaccgtgag gctccagtct ccagcatgaa tgcccttcct cggacacagg ccagggcctc
     1141 tggggttcac tccgagtaag aacgtcctag agccactctc cagtgtcgtt actatcaatg
     1201 atacttgacg tggctttgat attaaacgta tactttttca ttcttgcctg gaacgcacag
     1261 tttgctgttg ctggcttggt gaggatgccc tgattgatgg atcccgaaaa tgaaagcaga
     1321 tggaaacggg ttggggcagg ctggagctgg gggagctctc tcctgaaggg aaccctgtgt
     1381 cctccctcac caggacctct gcgtctctcc ttaaatggcc tctgacgcct gatgaaaacc
     1441 ccagcgacct tccaggaggc ttttattcag ctctgtttgg agcatcaggt gtttccactg
     1501 cctccttagc aatgacacta ataaaagtcg taacacctgt tcacatgca
//
LOCUS       NM_001042693             924 bp    mRNA    linear   PRI 20-JAN-2023
DEFINITION  Homo sapiens shisa like 2A (SHISAL2A), transcript variant 1, mRNA.
ACCESSION   NM_001042693
VERSION     NM_001042693.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 924)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 924)
  AUTHORS   Pei J and Grishin NV.
  TITLE     Unexpected diversity in Shisa-like proteins suggests the importance
            of their roles as transmembrane adaptors
  JOURNAL   Cell Signal 24 (3), 758-769 (2012)
   PUBMED   22120523
REFERENCE   3  (bases 1 to 924)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   4  (bases 1 to 924)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N, Klika
            A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279847.971.1, AY358621.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000517870.2/ ENSP00000429726.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356976.30, AK128236.1, AY358621.1 and BG192125.1.
            On Nov 23, 2018 this sequence version replaced NM_001042693.2.
            Transcript Variant: This variant (1) encodes the supported protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..924
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     gene            1..924
                     /gene="SHISAL2A"
                     /gene_synonym="FAM159A; PRO7171; WWLS2783"
                     /note="shisa like 2A"
                     /db_xref="GeneID:348378"
                     /db_xref="HGNC:HGNC:28757"
                     /db_xref="MIM:620218"
     misc_feature    276..278
                     /gene="SHISAL2A"
                     /gene_synonym="FAM159A; PRO7171; WWLS2783"
                     /note="upstream in-frame stop codon"
     CDS             327..899
                     /gene="SHISAL2A"
                     /gene_synonym="FAM159A; PRO7171; WWLS2783"
                     /note="membrane protein FAM159A; family with sequence
                     similarity 159 member A"
                     /codon_start=1
                     /product="protein shisa-like-2A"
                     /protein_id="NP_001036158.1"
                     /db_xref="CCDS:CCDS41336.1"
                     /db_xref="GeneID:348378"
                     /db_xref="HGNC:HGNC:28757"
                     /db_xref="MIM:620218"
                     /translation="MSGACTSYVSAEQEVVRGFSCPRPGGEAAAVFCCGFRDHKYCCDD
                     PHSFFPYEHSYMWWLSIGALIGLSVAAVVLLAFIVTACVLCYLFISSKPHTKLDLGLSL
                     QTAGPEEVSPDCQGVNTGMAAEVPKVSPLQQSYSCLNPQLESNEGQAVNSKRLLHHCFM
                     ATVTTSDIPGSPEEASVPNPDLCGPVP"
     misc_feature    468..530
                     /gene="SHISAL2A"
                     /gene_synonym="FAM159A; PRO7171; WWLS2783"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWV7.2);
                     transmembrane region"
     misc_feature    534..596
                     /gene="SHISAL2A"
                     /gene_synonym="FAM159A; PRO7171; WWLS2783"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWV7.2);
                     transmembrane region"
     regulatory      906..911
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHISAL2A"
                     /gene_synonym="FAM159A; PRO7171; WWLS2783"
                     /note="hexamer: AATAAA"
     polyA_site      924
                     /gene="SHISAL2A"
                     /gene_synonym="FAM159A; PRO7171; WWLS2783"
                     /note="major polyA site"
ORIGIN
        1 agagccaggc gagcacgcgg ctcccggccc agctccccgc gtccgctccg gctcctgccg
       61 cgttccagca gccgtcactc ccgccgccgg cccccgccgc ccgccccgcc tgcccctacc
      121 cctccgcgcg ggccgggcac ctggccgccg ctcggtcctc ggggccccgc gctgctgtct
      181 ctgtctcggc ttctctcggc ccctgggtct cttcgtctct gccgttctca ggctcagctc
      241 cgtctcgctc ggtccctcgc ttccccgccg ggctctagcc ggccgtctgg tggcccgagg
      301 tggcggcggg ctgggcgcgg ggcgcgatga gcggcgcctg cacgagctac gtgagcgcag
      361 agcaggaggt ggtgcgcggc ttcagctgcc cgcggccggg gggcgaggcg gccgctgtct
      421 tctgctgcgg cttccgcgac cacaagtact gctgcgacga cccgcacagc ttcttcccct
      481 acgagcacag ctacatgtgg tggctcagca ttggcgctct cataggcctg tccgtagcag
      541 cagtggttct tctcgccttc attgttaccg cctgtgtgct ctgctacctg ttcatcagct
      601 ctaagcccca cacaaagttg gacctgggct tgagcttaca gacagcaggc cctgaggagg
      661 tttctcctga ctgccaaggt gtgaacacag gcatggcggc agaagtgcca aaagtgagcc
      721 ctctccagca gagttactcc tgcttgaacc cgcagctgga gagcaatgag gggcaggctg
      781 tgaactccaa acgcctcctc catcattgct tcatggccac agtgaccacc agtgacattc
      841 caggcagccc tgaggaagcc tctgtaccca accctgacct atgtggacca gtcccataaa
      901 cattcaataa atgtctccat acca
//
LOCUS       NM_001042697            2020 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens zinc finger SWIM-type containing 7 (ZSWIM7), transcript
            variant 1, mRNA.
ACCESSION   NM_001042697
VERSION     NM_001042697.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2020)
  AUTHORS   Hussain S, Nawaz S, Khan I, Khan N, Hussain S, Ullah I, Fakhro KA
            and Ahmad W.
  TITLE     A novel homozygous variant in homologous recombination repair gene
            ZSWIM7 causes azoospermia in males and primary ovarian insufficiency
            in females
  JOURNAL   Eur J Med Genet 65 (11), 104629 (2022)
   PUBMED   36202298
  REMARK    GeneRIF: A novel homozygous variant in homologous recombination
            repair gene ZSWIM7 causes azoospermia in males and primary ovarian
            insufficiency in females. Review article
REFERENCE   2  (bases 1 to 2020)
  AUTHORS   Yatsenko SA, Gurbuz F, Topaloglu AK, Berman AJ, Martin PM,
            Rodrigue-Escriba M, Qin Y and Rajkovic A.
  TITLE     Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency
  JOURNAL   J Clin Endocrinol Metab 107 (6), e2359-e2364 (2022)
   PUBMED   35218660
  REMARK    GeneRIF: Pathogenic Variants in ZSWIM7 Cause Primary Ovarian
            Insufficiency. Erratum:[J Clin Endocrinol Metab. 2022 Aug
            18;107(9):e3969. PMID: 35689663]
REFERENCE   3  (bases 1 to 2020)
  AUTHORS   McGlacken-Byrne SM, Le Quesne Stabej P, Del Valle I, Ocaka L,
            Gagunashvili A, Crespo B, Moreno N, James C, Bacchelli C, Dattani
            MT, Williams HJ, Kelberman D, Achermann JC and Conway GS.
  TITLE     ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary
            Ovarian Insufficiency
  JOURNAL   J Clin Endocrinol Metab 107 (1), e254-e263 (2022)
   PUBMED   34402903
  REMARK    GeneRIF: ZSWIM7 Is Associated With Human Female Meiosis and Familial
            Primary Ovarian Insufficiency.
REFERENCE   4  (bases 1 to 2020)
  AUTHORS   Li Y, Wu Y, Zhou J, Zhang H, Zhang Y, Ma H, Jiang X and Shi Q.
  TITLE     A recurrent ZSWIM7 mutation causes male infertility resulting from
            decreased meiotic recombination
  JOURNAL   Hum Reprod 36 (5), 1436-1445 (2021)
   PUBMED   33713115
  REMARK    GeneRIF: A recurrent ZSWIM7 mutation causes male infertility
            resulting from decreased meiotic recombination.
REFERENCE   5  (bases 1 to 2020)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 2020)
  AUTHORS   Martino J, Brunette GJ, Barroso-Gonzalez J, Moiseeva TN, Smith CM,
            Bakkenist CJ, O'Sullivan RJ and Bernstein KA.
  TITLE     The human Shu complex functions with PDS5B and SPIDR to promote
            homologous recombination
  JOURNAL   Nucleic Acids Res 47 (19), 10151-10165 (2019)
   PUBMED   31665741
REFERENCE   7  (bases 1 to 2020)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   8  (bases 1 to 2020)
  AUTHORS   Sung YJ, de Las Fuentes L, Schwander KL, Simino J and Rao DC.
  TITLE     Gene-smoking interactions identify several novel blood pressure loci
            in the Framingham Heart Study
  JOURNAL   Am J Hypertens 28 (3), 343-354 (2015)
   PUBMED   25189868
REFERENCE   9  (bases 1 to 2020)
  AUTHORS   Liu T, Wan L, Wu Y, Chen J and Huang J.
  TITLE     hSWS1.SWSAP1 is an evolutionarily conserved complex required for
            efficient homologous recombination repair
  JOURNAL   J Biol Chem 286 (48), 41758-41766 (2011)
   PUBMED   21965664
REFERENCE   10  (bases 1 to 2020)
  AUTHORS   Martin V, Chahwan C, Gao H, Blais V, Wohlschlegel J, Yates JR 3rd,
            McGowan CH and Russell P.
  TITLE     Sws1 is a conserved regulator of homologous recombination in
            eukaryotic cells
  JOURNAL   EMBO J 25 (11), 2564-2574 (2006)
   PUBMED   16710300
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DA593990.1, SRR1660803.219346.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000399277.6/ ENSP00000382218.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006251.3, BU075283.1 and DQ530600.1.
            On Nov 23, 2018 this sequence version replaced NM_001042697.1.
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2020
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p12"
     gene            1..2020
                     /gene="ZSWIM7"
                     /gene_synonym="ODG10; SPGF71; SWS1"
                     /note="zinc finger SWIM-type containing 7"
                     /db_xref="GeneID:125150"
                     /db_xref="HGNC:HGNC:26993"
                     /db_xref="MIM:614535"
     CDS             111..533
                     /gene="ZSWIM7"
                     /gene_synonym="ODG10; SPGF71; SWS1"
                     /note="SWIM domain-containing and Srs2-interacting protein
                     1 homolog; SWIM-type zinc finger domain-containing protein
                     7"
                     /codon_start=1
                     /product="zinc finger SWIM domain-containing protein 7"
                     /protein_id="NP_001036162.1"
                     /db_xref="CCDS:CCDS42266.1"
                     /db_xref="GeneID:125150"
                     /db_xref="HGNC:HGNC:26993"
                     /db_xref="MIM:614535"
                     /translation="MAVVLPAVVEELLSEMAAAVQESARIPDEYLLSLKFLFGSSATQA
                     LDLVDRQSITLISSPSGRRVYQVLGSSSKTYTCLASCHYCSCPAFAFSVLRKSDSILCK
                     HLLAVYLSQVMRTCQQLSVSDKQLTDILLMEKKQEA"
     regulatory      821..826
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZSWIM7"
                     /gene_synonym="ODG10; SPGF71; SWS1"
                     /note="hexamer: AATAAA"
     polyA_site      850
                     /gene="ZSWIM7"
                     /gene_synonym="ODG10; SPGF71; SWS1"
                     /note="major polyA site"
     regulatory      1984..1989
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZSWIM7"
                     /gene_synonym="ODG10; SPGF71; SWS1"
                     /note="hexamer: GATAAA"
     polyA_site      2020
                     /gene="ZSWIM7"
                     /gene_synonym="ODG10; SPGF71; SWS1"
ORIGIN
        1 actccgtctc gccctgcccc ggcggggggt caggatcctc cacaggtagg cgcagtcagc
       61 tggagcgtcg cggcggtccg ccggtcgtgg agggcgtgtc ctgcggcgcg atggccgtag
      121 tgttgccggc ggttgtggag gagctcctga gcgagatggc ggcggcggtg caggagagcg
      181 cgcgaattcc tgatgaatat ctgttatcgc tgaagtttct ctttggctca tcagccaccc
      241 aggccttgga cctagttgat cgacagtcca tcaccttaat ctcatcaccc agtggaaggc
      301 gtgtttacca ggtccttgga agttccagta aaacatacac atgtttggct tcttgtcatt
      361 actgttcatg tcctgcattt gcattctcag tgctacggaa gagtgacagc atcctgtgca
      421 agcatctctt ggcagtttac ctgagtcagg ttatgaggac ctgtcagcag ctaagtgtct
      481 ctgacaagca gttgactgac atattattga tggagaagaa acaagaagca taaaaggtac
      541 agattgagca tcattctttc aaaatagaat cctgtcaaga aatgcattga aagcgtcatg
      601 attcacatgg aaaagaggtg aaatggatct tcagacactt catgttactg tcccttttcc
      661 ctccaggact gcaggaggtg ctgtgggttg gagccgtggg ctgtggaggg tttgtgtatg
      721 atgagaagcc ctgtacagtc ttgtcaagaa ataccctgag ccagtctctg agacgcttcg
      781 gtaaaaaatg tccctggatg gaatcaagat tttaaattca aataaagcct aatatcatgt
      841 tgtgtccaca ttatttagtc tttttttttt tcttttgaga tggagtctca ctttgtcgcc
      901 caggctgggg tgcagtggcg tgatctcagc tcactgcaag ctccgcctcc cgggttcacg
      961 ccattctcct gcctcagcct cccgagtagc tgggactaca ggtacccgcc accatgcccg
     1021 gctaaatttt tgtatttttt ttttagtaga gatggggttt caccgtgtta gccaggatgg
     1081 tctccatctc ctgacctagt ggtctgcccg cctcgacctc ccaaagtgct ggaattacat
     1141 gcatgagcca ctgcgcctga ccctatttag tcttaagtaa ctaactgaat tactagtaat
     1201 ttttaaaagg ttggaatggt gggccaaaca gtaagatgaa gtttcgacga gtaggtcagt
     1261 tcttttcctt gggtccagga aactattgag cagcaacaga agatcagagc agagatgtgg
     1321 ctaaacagta gcaggtatga aaagacttag aggttctggt ttctgtaagc ttcaaatatc
     1381 tgtgatgctt gtgccaaaac agcttaagta gactgtattg tttgagagtt agtatcgaga
     1441 acaagggaag aactggtttc actctgcact tctgatcttt acaacagggc aattgaagga
     1501 acagactaaa aatcgtgtcc tggaaggaaa ctacaggtac taccagggat tttcagtctg
     1561 aagaagaaaa gacaaaatag atgacagaag gagtattaga agggagagcg atgagactca
     1621 gttggacacc gagagagcaa agaagcaata atacgtgaag atgaaaatga aatcaatttc
     1681 agcataagaa gacaagaact tatggtaaag ctgcccacag ccagaagagg atcctagaag
     1741 gacaggaatt ccctgtctgc agcatttcat aagcatgtaa tattgttgca gggatactgc
     1801 agaaggagtt gaagcagtgg acagacagat gatataggtg attttacagc ctaagaaagc
     1861 cctgtgcttg tgcccccaaa acatgaggtg ctagtgaatg aatgctgggg gaaagcccag
     1921 ggcctaggtg ttgcaatgtt ctgtggttgg cagatgcttt ttgttttgtt aaaaagtgca
     1981 acagataaaa tttatcaata cttttctgct actcaggaaa
//
LOCUS       NM_001042702            2301 bp    mRNA    linear   PRI 23-MAY-2023
DEFINITION  Homo sapiens pejvakin (PJVK), transcript variant 1, mRNA.
ACCESSION   NM_001042702
VERSION     NM_001042702.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2301)
  AUTHORS   Dominguez-Ruiz M, Rodriguez-Ballesteros M, Gandia M, Gomez-Rosas E,
            Villamar M, Scimemi P, Mancini P, Rendtorff ND, Moreno-Pelayo MA,
            Tranebjaerg L, Meda C, Santarelli R and Del Castillo I.
  TITLE     Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in
            Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment
            and Auditory Neuropathy Spectrum Disorder
  JOURNAL   Genes (Basel) 13 (1), 149 (2022)
   PUBMED   35052489
  REMARK    GeneRIF: Novel Pathogenic Variants in PJVK, the Gene Encoding
            Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing
            Impairment and Auditory Neuropathy Spectrum Disorder. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 2301)
  AUTHORS   Alimardani M, Hosseini SM, Khaniani MS, Haghi MR, Eslahi A, Farjami
            M, Chezgi J, Derakhshan SM and Mojarrad M.
  TITLE     Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23
            Genes in Iranian Patients with AR Nonsyndromic Hearing Loss
  JOURNAL   Fetal Pediatr Pathol 38 (2), 93-102 (2019)
   PUBMED   30582396
  REMARK    GeneRIF: two mutations, one in MYO6 (c.554-1 G > A) gene and another
            in PJVK (c.547C > T) are responsible for 1% each of the Iranian
            ARNSHL patients
REFERENCE   3  (bases 1 to 2301)
  AUTHORS   Salime S, Charif M, Bousfiha A, Elrharchi S, Bakhchane A, Charoute
            H, Kabine M, Snoussi K, Lenaers G and Barakat A.
  TITLE     Homozygous mutations in PJVK and MYO15A genes associated with
            non-syndromic hearing loss in Moroccan families
  JOURNAL   Int J Pediatr Otorhinolaryngol 101, 25-29 (2017)
   PUBMED   28964305
  REMARK    GeneRIF: We identified in Moroccan deaf patients two mutations in
            PJVK and one mutation in MYO15A described for the first time in
            association with non-syndromic recessive hearing loss
REFERENCE   4  (bases 1 to 2301)
  AUTHORS   Kazmierczak M, Kazmierczak P, Peng AW, Harris SL, Shah P, Puel JL,
            Lenoir M, Franco SJ and Schwander M.
  TITLE     Pejvakin, a Candidate Stereociliary Rootlet Protein, Regulates Hair
            Cell Function in a Cell-Autonomous Manner
  JOURNAL   J Neurosci 37 (13), 3447-3464 (2017)
   PUBMED   28209736
REFERENCE   5  (bases 1 to 2301)
  AUTHORS   Delmaghani S, Defourny J, Aghaie A, Beurg M, Dulon D, Thelen N,
            Perfettini I, Zelles T, Aller M, Meyer A, Emptoz A, Giraudet F,
            Leibovici M, Dartevelle S, Soubigou G, Thiry M, Vizi ES, Safieddine
            S, Hardelin JP, Avan P and Petit C.
  TITLE     Hypervulnerability to Sound Exposure through Impaired Adaptive
            Proliferation of Peroxisomes
  JOURNAL   Cell 163 (4), 894-906 (2015)
   PUBMED   26544938
  REMARK    GeneRIF: Study describes a genetic form of noise-induced hearing
            loss , by showing that pejvakin deficiency in mice and DFNB59
            patients leads to hypervulnerability to sound, due to a peroxisomal
            deficiency.
REFERENCE   6  (bases 1 to 2301)
  AUTHORS   Hashemzadeh Chaleshtori,M., Simpson,M.A., Farrokhi,E., Dolati,M.,
            Hoghooghi Rad,L., Amani Geshnigani,S. and Crosby,A.H.
  TITLE     Novel mutations in the pejvakin gene are associated with autosomal
            recessive non-syndromic hearing loss in Iranian families
  JOURNAL   Clin Genet 72 (3), 261-263 (2007)
   PUBMED   17718865
  REMARK    GeneRIF: Mutations in DFNB59 are associated with autosomal recessive
            non-syndromic hearing loss in about 6.7% of GJB2-negative families.
REFERENCE   7  (bases 1 to 2301)
  AUTHORS   Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den
            Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot
            LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A and Kremer H.
  TITLE     Involvement of DFNB59 mutations in autosomal recessive nonsyndromic
            hearing impairment
  JOURNAL   Hum Mutat 28 (7), 718-723 (2007)
   PUBMED   17373699
  REMARK    GeneRIF: data indicate that nonsense mutations in DFNB59 cause
            nonsyndromic hearing loss, but that mutations in DFNB59 are not a
            major cause of nonsyndromic hearing impairment in the Turkish and
            Dutch population
REFERENCE   8  (bases 1 to 2301)
  AUTHORS   Ebermann I, Walger M, Scholl HP, Charbel Issa P, Luke C, Nurnberg G,
            Lang-Roth R, Becker C, Nurnberg P and Bolz HJ.
  TITLE     Truncating mutation of the DFNB59 gene causes cochlear hearing
            impairment and central vestibular dysfunction
  JOURNAL   Hum Mutat 28 (6), 571-577 (2007)
   PUBMED   17301963
  REMARK    GeneRIF: We have identified a consanguineous family segregating
            autosomal recessive congenital progressive hearing loss (ARNSHL) and
            retinal degeneration with central vestibular dysfunction having
            homozygosity for a DFNB59 mutation.
REFERENCE   9  (bases 1 to 2301)
  AUTHORS   Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron
            U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M,
            Avan P and Petit C.
  TITLE     Mutations in the gene encoding pejvakin, a newly identified protein
            of the afferent auditory pathway, cause DFNB59 auditory neuropathy
  JOURNAL   Nat Genet 38 (7), 770-778 (2006)
   PUBMED   16804542
  REMARK    GeneRIF: DFNB59, a newly identified gene on chromosome 2q31.1-q31.3
            mutated in four families segregating autosomal recessive auditory
            neuropathy
REFERENCE   10  (bases 1 to 2301)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Schaefer,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301607
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ365827.1, BC146938.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145245 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000644580.2/ ENSP00000495855.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009948.3, DQ365827.1 and
            BC127902.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 17, 2019 this sequence version replaced NM_001042702.4.
            Summary: The protein encoded by this gene is a member of the
            gasdermin family, a family which is found only in vertebrates. The
            encoded protein is required for the proper function of auditory
            pathway neurons. Defects in this gene are a cause of non-syndromic
            sensorineural deafness autosomal recessive type 59 (DFNB59).
            [provided by RefSeq, Dec 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2301
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.2"
     gene            1..2301
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /note="pejvakin"
                     /db_xref="GeneID:494513"
                     /db_xref="HGNC:HGNC:29502"
                     /db_xref="MIM:610219"
     misc_feature    397..399
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /note="upstream in-frame stop codon"
     CDS             415..1473
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /note="isoform 1 is encoded by transcript variant 1;
                     autosomal recessive deafness type 59 protein"
                     /codon_start=1
                     /product="pejvakin isoform 1"
                     /protein_id="NP_001036167.1"
                     /db_xref="CCDS:CCDS42787.1"
                     /db_xref="GeneID:494513"
                     /db_xref="HGNC:HGNC:29502"
                     /db_xref="MIM:610219"
                     /translation="MFAAATKSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFL
                     FPRYKFTSTPFTLKDILLGDREISAGISSYQLLNYEDESDVSLYGRRGNHIVNDVGINV
                     AGSDSIAVKASFGIVTKHEVEVSTLLKEITTRKINFDHSLIRQSRSSRKAVLCVVMESI
                     RTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAF
                     DLCVTSVSKGGFEREETATFALLYRLRNILFERNRRVMDVISRSQLYLDDLFSDYYDKP
                     LSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNFKRETVYGCFQCSVDGQKYVRLHA
                     VPCFDIWHKRMK"
     regulatory      1469..1474
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /note="hexamer: AATAAA"
     polyA_site      1486
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /note="major polyA site"
     regulatory      1564..1569
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /note="hexamer: ATTAAA"
     polyA_site      1589
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
     regulatory      2280..2285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
                     /note="hexamer: ATTAAA"
     polyA_site      2301
                     /gene="PJVK"
                     /gene_synonym="DFNB59"
ORIGIN
        1 gaccagcctg tagtaactgg cccctaggcc gcagttcttt gtccttagca ggaggccgtt
       61 tcttgccggg agagagggat tagagggatt gtccggcgtg ggtctagggt cgttgaggcc
      121 taaagttaag cctttgtggg gaggacggat tgggggctgg gtcactttaa gaaaaagatt
      181 ctaaaattac gaaggcagaa ttccagggag tctcccgggc ctggtcctga agcttgagac
      241 cccggatata tacgctccag ggggctgcgg tgcgctcttc gggtccccga gccctgtgtt
      301 taggaacacg cggggacgtc caaacacccg ctcctctccc gccgggcggg ctcctttgtc
      361 ttctgggctt tcgtcgcgag atggaacgct ggttgatgac gttttgattt taatatgttt
      421 gctgctgcta ccaagagctt tgtcaagcaa gttggagatg gagggagatt agttcctgtt
      481 ccaagcctca gtgaagctga caaatatcaa cctctaagtc tggtggtaaa aaagaagcga
      541 tgctttctgt ttcctagata taaatttact tcaacacctt ttacactgaa agatattctc
      601 ctaggagaca gagaaatttc agctggtatt tcatcttatc aattactgaa ttatgaagat
      661 gaatcagatg tttcactcta tggaaggcga ggtaaccata ttgtaaatga cgttgggatt
      721 aacgttgctg gatcagattc cattgcagtg aaagcttcat ttggtatagt aaccaaacat
      781 gaagtggaag tatcaacatt actcaaagaa attactacac gaaaaattaa ctttgaccac
      841 agcttgatac gtcagtcaag gagcagcaga aaggcagtat tgtgtgtggt catggagagc
      901 atccgaacca cacgacagtg ctcactgtct gtgcatgctg gaattcgagg ggaagcaatg
      961 cggtttcact ttatggatga acagaatccc aagggaaggg acaaagctat tgttttccca
     1021 gcacatacaa ccatagcttt cagtgttttt gaactcttca tatacctgga tggtgccttt
     1081 gacctttgtg tcacttcagt gtcaaaagga ggatttgaaa gggaagaaac ggcaacattt
     1141 gcactgctgt acaggttgag aaatatccta tttgaaagaa atagaagagt gatggatgtc
     1201 atttctcgtt cacagcttta cttggatgat cttttttctg actactatga caaacctctc
     1261 agcatgactg atatttcact caaagaaggg acccatatcc gagttaactt acttaatcac
     1321 aacattccca aagggccttg catactctgt ggaatgggga acttcaaaag ggagacagtt
     1381 tatgggtgct ttcagtgttc tgttgatggt cagaagtatg tgagacttca tgcagttcct
     1441 tgttttgata tttggcacaa gaggatgaaa taaaatgaaa aatgaataca ccgtgttggt
     1501 gttttaggtg cagttgtgcc acaaaccttc cctaaattat ctaggtttgc tttgatgaat
     1561 taaattaaaa tgagaaaagc aaaaagaaat taacctgtct gggtatcata ttccctatct
     1621 ataaagtagc aattataaca gtagtgtcta tttcttaagt tgtcatgaaa attaataaca
     1681 ttgtttatat caaaaaagat ttacatataa aattcagaga ttatgaatca tgccagtcac
     1741 tttagaatca tttttgggat gtagtctatc attttagttc accttttttt tttttttttt
     1801 tgagacagag ccttgctccg tcacccaggc tggagtacag tggcatgatc tcagctcact
     1861 gcaacctctg cctcctgggt tcaagcaatt ctctgcctca gcctcccgag tagctgggat
     1921 tactggcgcc tgccaccacg cctggctaat tttttgtatt tttagtagag acagagtttt
     1981 accatcttgg ccaggctgat cttgaactcc tgaccttgtg atccactttc ctcggcctcc
     2041 caaagtgctg ggattacagg catgggccac cgtgcctggc ctagataact ttttatataa
     2101 ttaagagatt tttgtaaata ccaattttat tttcaatcaa ctttcagttc aatatgtaag
     2161 gatgacaaga ctgcacaagt agcaactttt ggtgtttcaa ctattgcctt tggtctggta
     2221 aaatgagaaa aatgtgttaa taatttaatg caatcttaaa tgtttaattg cagtatcaaa
     2281 ttaaaagcac actgaactca a
//
LOCUS       NM_001042706            1469 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens IQ motif containing J (IQCJ), transcript variant 2,
            mRNA.
ACCESSION   NM_001042706
VERSION     NM_001042706.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1469)
  AUTHORS   Vallee Marcotte B, Guenard F, Cormier H, Lemieux S, Couture P,
            Rudkowska I and Vohl MC.
  TITLE     Plasma Triglyceride Levels May Be Modulated by Gene Expression of
            IQCJ, NXPH1, PHF17 and MYB in Humans
  JOURNAL   Int J Mol Sci 18 (2), 257 (2017)
   PUBMED   28134766
  REMARK    GeneRIF: A genome-wide association study (GWAS) identified loci
            associated with the plasma triglyceride (TG) response to omega-3
            fatty acid (FA) supplementation in IQCJ, NXPH1, PHF17 and MYB.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1469)
  AUTHORS   Vallee Marcotte B, Cormier H, Guenard F, Rudkowska I, Lemieux S,
            Couture P and Vohl MC.
  TITLE     Novel Genetic Loci Associated with the Plasma Triglyceride Response
            to an Omega-3 Fatty Acid Supplementation
  JOURNAL   J Nutrigenet Nutrigenomics 9 (1), 1-11 (2016)
   PUBMED   27160456
  REMARK    GeneRIF: identification of SNPs within the IQCJ, NXPH1, PHF17 and
            MYB genes partly explaining the large interindividual variability
            observed in plasma triglyceride levels in response to an n-3 fatty
            acid supplementation
REFERENCE   3  (bases 1 to 1469)
  AUTHORS   Martin PM, Carnaud M, Garcia del Cano G, Irondelle M, Irinopoulou T,
            Girault JA, Dargent B and Goutebroze L.
  TITLE     Schwannomin-interacting protein-1 isoform IQCJ-SCHIP-1 is a late
            component of nodes of Ranvier and axon initial segments
  JOURNAL   J Neurosci 28 (24), 6111-6117 (2008)
   PUBMED   18550753
REFERENCE   4  (bases 1 to 1469)
  AUTHORS   Kwasnicka-Crawford DA, Carson AR and Scherer SW.
  TITLE     IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding
            IQ motif protein
  JOURNAL   Biochem Biophys Res Commun 350 (4), 890-899 (2006)
   PUBMED   17045569
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ309554.1, DA178041.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000397832.7/ ENSP00000380932.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA305468.1 and DQ309554.1.
            On Jun 2, 2019 this sequence version replaced NM_001042706.2.
            Transcript Variant: This variant (2) uses an alternate 3' exon and
            thereby differs in the 3' coding region and 3' UTR, compared to
            variant 1. The encoded isoform (CaMBPv2) has a distinct and shorter
            C-terminus, compared to isoform CaMBPv1.
FEATURES             Location/Qualifiers
     source          1..1469
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.32"
     gene            1..1469
                     /gene="IQCJ"
                     /note="IQ motif containing J"
                     /db_xref="GeneID:654502"
                     /db_xref="HGNC:HGNC:32406"
                     /db_xref="MIM:611622"
     CDS             115..453
                     /gene="IQCJ"
                     /note="isoform CaMBPv2 is encoded by transcript variant 2;
                     IQ domain-containing protein J; calmodulin binding protein"
                     /codon_start=1
                     /product="IQ domain-containing protein J isoform CaMBPv2"
                     /protein_id="NP_001036171.1"
                     /db_xref="CCDS:CCDS46947.1"
                     /db_xref="GeneID:654502"
                     /db_xref="HGNC:HGNC:32406"
                     /db_xref="MIM:611622"
                     /translation="MRLEELKRLQNPLEQVNDGKYSFENHQLAMDAENNIEKYPLNLQP
                     LESKVKIIQRAWREYLQRQEPLGKRSPSPPSVSSEKLSSSVSMNTFSDSSTPVSVMFLF
                     LCPDLTFN"
ORIGIN
        1 acactcgcct cacattcccc cacagtcaca ttgcgctctg tgattctgag gaatacagtg
       61 tgccagcatc cgatccagtc tcctttcacc tgcaggtgtt ccagaaactt caaaatgcgt
      121 ctggaagaac tgaaaagatt gcagaatcct ctagaacaag ttaatgatgg aaaatattca
      181 tttgaaaatc accagctggc catggatgca gagaataata ttgaaaagta tcccctcaat
      241 ctacagccct tggaatcaaa ggtgaaaatc attcagcgag catggcgaga gtacctgcag
      301 cggcaggagc ccctggggaa gaggagcccg tccccaccct ctgtctcctc agagaagctg
      361 agcagctctg tcagcatgaa caccttctcc gacagcagca cacccgtgag tgtcatgttt
      421 ctttttctat gtcctgactt gacattcaac tgaaagccta gactttggtt ctaagagaga
      481 aatcttggga tgtgagcagg tggtttgtga cagtgaagat ctatgtagct tatttgctac
      541 ccaggaaccc atggtgagag ttttgtcacc tcaaaataaa gacacaattc ataagcacaa
      601 agtgaacttt atcaagtctg gagaaaatag attgcattta tgtgttctca tttctctatt
      661 atggaggtat cttttttgct tttctttata atagcatatt tcttttagta tgtgctgtgt
      721 gtttctttta ttgtgtggtg ctaatatgat agaagataag attggttata aggagtagaa
      781 agagaacttt taccagaaga attgaaagtg gtcacacact caggggttgc aacttaaatg
      841 tctccagggg ccaggtaagt caccctcatg actgaggtgg ctgagctgtg cccctggcta
      901 cacggagaac atagacctca cctgaagggc agcgcacttg gctcctgaca atgtgacacc
      961 atgtggcgat acaggcaggc atggccaaat gtgattttct ttcttcagga catgtcagaa
     1021 atctgcattt ttaagtgtta gcagccagta agaaaattta aaaggtaaag taagcatgcc
     1081 tacagaccac aattgaccta caggccacca gtttaagaaa tctgagatag agagttaagg
     1141 aataagggaa tctgctggaa gtctttattt ttaaaaaaca ccaaaagtgg gaagaaatca
     1201 gtgatgaggg atttatgaac caggattttg tggatttaag cattgtgata atttgtaacc
     1261 agtcactgaa atgctgaaaa gttagagaaa tgaagtaatt acacaagtat attacttcca
     1321 aaaatttttc ttttactttt ggttatcatg tttattctgt ggtaaaaagg tttcccaaca
     1381 ctcaacgcaa tgtattcttt ttgggatcag gtaaaagtta ctgtatttga aatgttttca
     1441 gatggttgca ttgcatattc ttcaataaa
//
LOCUS       NM_001042724            2690 bp    mRNA    linear   PRI 13-JUL-2023
DEFINITION  Homo sapiens nectin cell adhesion molecule 2 (NECTIN2), transcript
            variant delta, mRNA.
ACCESSION   NM_001042724
VERSION     NM_001042724.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2690)
  AUTHORS   Li A, Ji B, Yang Y, Ye B, Zhu Q, Hu X, Liu Y, Zhou P, Liu J, Gao R,
            Zhou Q, Kang B and Jiang Y.
  TITLE     Single-cell RNA sequencing highlights the role of PVR/PVRL2 in the
            immunosuppressive tumour microenvironment in hepatocellular
            carcinoma
  JOURNAL   Front Immunol 14, 1164448 (2023)
   PUBMED   37383234
  REMARK    GeneRIF: Single-cell RNA sequencing highlights the role of PVR/PVRL2
            in the immunosuppressive tumour microenvironment in hepatocellular
            carcinoma. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2690)
  AUTHORS   Najafi A, Sabaghi M, Asgarian-Omran H, Valadan R, Shekarriz R,
            Zaboli E, Janbabai G and Tehrani M.
  TITLE     Relative Expression of BATF and CD112 in PBMC of Patients with
            Chronic Lymphocytic Leukemia
  JOURNAL   Asian Pac J Cancer Prev 24 (6), 2171-2176 (2023)
   PUBMED   37378949
  REMARK    GeneRIF: Relative Expression of BATF and CD112 in PBMC of Patients
            with Chronic Lymphocytic Leukemia. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2690)
  AUTHORS   Guardiola M, Muntane G, Martinez I, Martorell L, Girona J, Ibarretxe
            D, Plana N, Bullido MJ, Vilella E and Ribalta J.
  TITLE     Metabolic Overlap between Alzheimer's Disease and Metabolic Syndrome
            Identifies the PVRL2 Gene as a New Modulator of Diabetic
            Dyslipidemia
  JOURNAL   Int J Mol Sci 24 (8), 7415 (2023)
   PUBMED   37108578
  REMARK    GeneRIF: Metabolic Overlap between Alzheimer's Disease and Metabolic
            Syndrome Identifies the PVRL2 Gene as a New Modulator of Diabetic
            Dyslipidemia. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2690)
  AUTHORS   Zhang S, Jiang C, Su Y, Gui J, Yue Z, Jian B, He S and Ma X.
  TITLE     Nectin2 influences cell apoptosis by regulating ANXA2 expression in
            neuroblastoma
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 55 (3), 356-366 (2023)
   PUBMED   36916296
  REMARK    GeneRIF: Nectin2 influences cell apoptosis by regulating ANXA2
            expression in neuroblastoma.
REFERENCE   5  (bases 1 to 2690)
  AUTHORS   Liang X, Liu C, Liu K, Cong L, Wang Y, Liu R, Fa W, Tian N, Cheng Y,
            Wang N, Hou T, Du Y and Qiu C.
  TITLE     Association and interaction of TOMM40 and PVRL2 with plasma
            amyloid-beta and Alzheimer's disease among Chinese older adults: a
            population-based study
  JOURNAL   Neurobiol Aging 113, 143-151 (2022)
   PUBMED   35093267
  REMARK    GeneRIF: Association and interaction of TOMM40 and PVRL2 with plasma
            amyloid-beta and Alzheimer's disease among Chinese older adults: a
            population-based study.
REFERENCE   6  (bases 1 to 2690)
  AUTHORS   Shukla D, Rowe CL, Dong Y, Racaniello VR and Spear PG.
  TITLE     The murine homolog (Mph) of human herpesvirus entry protein B (HveB)
            mediates entry of pseudorabies virus but not herpes simplex virus
            types 1 and 2
  JOURNAL   J Virol 73 (5), 4493-4497 (1999)
   PUBMED   10196354
REFERENCE   7  (bases 1 to 2690)
  AUTHORS   Lopez M, Aoubala M, Jordier F, Isnardon D, Gomez S and Dubreuil P.
  TITLE     The human poliovirus receptor related 2 protein is a new
            hematopoietic/endothelial homophilic adhesion molecule
  JOURNAL   Blood 92 (12), 4602-4611 (1998)
   PUBMED   9845526
REFERENCE   8  (bases 1 to 2690)
  AUTHORS   Warner MS, Geraghty RJ, Martinez WM, Montgomery RI, Whitbeck JC, Xu
            R, Eisenberg RJ, Cohen GH and Spear PG.
  TITLE     A cell surface protein with herpesvirus entry activity (HveB)
            confers susceptibility to infection by mutants of herpes simplex
            virus type 1, herpes simplex virus type 2, and pseudorabies virus
  JOURNAL   Virology 246 (1), 179-189 (1998)
   PUBMED   9657005
REFERENCE   9  (bases 1 to 2690)
  AUTHORS   Freistadt MS and Eberle KE.
  TITLE     Physical association between CD155 and CD44 in human monocytes
  JOURNAL   Mol Immunol 34 (18), 1247-1257 (1997)
   PUBMED   9683266
REFERENCE   10  (bases 1 to 2690)
  AUTHORS   Eberle F, Dubreuil P, Mattei MG, Devilard E and Lopez M.
  TITLE     The human PRR2 gene, related to the human poliovirus receptor gene
            (PVR), is the true homolog of the murine MPH gene
  JOURNAL   Gene 159 (2), 267-272 (1995)
   PUBMED   7622062
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.422840.1,
            SRR1660809.219310.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000252483.10/ ENSP00000252483.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN410857.1, X80038.1,
            CN359643.1 and AJ708439.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001042724.1.
            Summary: This gene encodes a single-pass type I membrane
            glycoprotein with two Ig-like C2-type domains and an Ig-like V-type
            domain. This protein is one of the plasma membrane components of
            adherens junctions. It also serves as an entry for certain mutant
            strains of herpes simplex virus and pseudorabies virus, and it is
            involved in cell to cell spreading of these viruses. Variations in
            this gene have been associated with differences in the severity of
            multiple sclerosis. Alternate transcriptional splice variants,
            encoding different isoforms, have been characterized. [provided by
            RefSeq, Jul 2008].
            Transcript Variant: This variant (delta) represents the longer
            transcript and encodes the longer isoform (delta).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2690
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..2690
                     /gene="NECTIN2"
                     /gene_synonym="CD112; HVEB; PRR2; PVRL2; PVRR2"
                     /note="nectin cell adhesion molecule 2"
                     /db_xref="GeneID:5819"
                     /db_xref="HGNC:HGNC:9707"
                     /db_xref="MIM:600798"
     misc_feature    98..100
                     /gene="NECTIN2"
                     /gene_synonym="CD112; HVEB; PRR2; PVRL2; PVRR2"
                     /note="upstream in-frame stop codon"
     CDS             230..1846
                     /gene="NECTIN2"
                     /gene_synonym="CD112; HVEB; PRR2; PVRL2; PVRR2"
                     /note="isoform delta precursor is encoded by transcript
                     variant delta; poliovirus receptor-like 2; herpesvirus
                     entry protein B; nectin-2; poliovirus receptor-related 2
                     (herpesvirus entry mediator B)"
                     /codon_start=1
                     /product="nectin-2 isoform delta precursor"
                     /protein_id="NP_001036189.1"
                     /db_xref="CCDS:CCDS42576.1"
                     /db_xref="GeneID:5819"
                     /db_xref="HGNC:HGNC:9707"
                     /db_xref="MIM:600798"
                     /translation="MARAAALLPSRSPPTPLLWPLLLLLLLETGAQDVRVQVLPEVRGQ
                     LGGTVELPCHLLPPVPGLYISLVTWQRPDAPANHQNVAAFHPKMGPSFPSPKPGSERLS
                     FVSAKQSTGQDTEAELQDATLALHGLTVEDEGNYTCEFATFPKGSVRGMTWLRVIAKPK
                     NQAEAQKVTFSQDPTTVALCISKEGRPPARISWLSSLDWEAKETQVSGTLAGTVTVTSR
                     FTLVPSGRADGVTVTCKVEHESFEEPALIPVTLSVRYPPEVSISGYDDNWYLGRTDATL
                     SCDVRSNPEPTGYDWSTTSGTFPTSAVAQGSQLVIHAVDSLFNTTFVCTVTNAVGMGRA
                     EQVIFVRETPNTAGAGATGGIIGGIIAAIIATAVAATGILICRQQRKEQTLQGAEEDED
                     LEGPPSYKPPTPKAKLEAQEMPSQLFTLGASEHSPLKTPYFDAGASCTEQEMPRYHELP
                     TLEERSGPLHPGATSLGSPIPVPPGPPAVEDVSLDLEDEEGEEEEEYLDKINPIYDALS
                     YSSPSDSYQGKGFVMSRAMYV"
     sig_peptide     230..322
                     /gene="NECTIN2"
                     /gene_synonym="CD112; HVEB; PRR2; PVRL2; PVRR2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     323..1843
                     /gene="NECTIN2"
                     /gene_synonym="CD112; HVEB; PRR2; PVRL2; PVRR2"
                     /product="nectin-2 isoform delta"
     misc_feature    638..640
                     /gene="NECTIN2"
                     /gene_synonym="CD112; HVEB; PRR2; PVRL2; PVRR2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92692.1); glycosylation site"
     misc_feature    1199..1201
                     /gene="NECTIN2"
                     /gene_synonym="CD112; HVEB; PRR2; PVRL2; PVRR2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q92692.1); glycosylation site"
     misc_feature    1310..1372
                     /gene="NECTIN2"
                     /gene_synonym="CD112; HVEB; PRR2; PVRL2; PVRR2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92692.1);
                     transmembrane region"
     misc_feature    1397..1471
                     /gene="NECTIN2"
                     /gene_synonym="CD112; HVEB; PRR2; PVRL2; PVRR2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92692.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1457..1459
                     /gene="NECTIN2"
                     /gene_synonym="CD112; HVEB; PRR2; PVRL2; PVRR2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92692.1); phosphorylation site"
     misc_feature    1526..1528
                     /gene="NECTIN2"
                     /gene_synonym="CD112; HVEB; PRR2; PVRL2; PVRR2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q92692.1);
                     phosphorylation site"
     misc_feature    1613..1696
                     /gene="NECTIN2"
                     /gene_synonym="CD112; HVEB; PRR2; PVRL2; PVRR2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92692.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1622..1624
                     /gene="NECTIN2"
                     /gene_synonym="CD112; HVEB; PRR2; PVRL2; PVRR2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92692.1); phosphorylation site"
     misc_feature    1637..1639
                     /gene="NECTIN2"
                     /gene_synonym="CD112; HVEB; PRR2; PVRL2; PVRR2"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q92692.1); phosphorylation site"
     polyA_site      2690
                     /gene="NECTIN2"
                     /gene_synonym="CD112; HVEB; PRR2; PVRL2; PVRR2"
                     /note="major polyA site"
ORIGIN
        1 gtgacgtcag cgggttcgaa ccgccggagc tgagcgagag gccgggggtg ccgagccggg
       61 cggggagagc tgggccggga gagcagaaca gggaggctag agcgcagcgg gaaccggccc
      121 ggagccggag ccggagcccc acaggcacct actaaaccgc ccagccgatc ggcccccaca
      181 gagtggcccg cgggcctccg gccgggccca gtcccctccc gggccctcca tggcccgggc
      241 cgctgccctc ctgccgtcga gatcgccgcc gacgccgctg ctgtggccgc tgctgctgct
      301 gctgctcctg gaaaccggag cccaggatgt gcgagttcaa gtgctacccg aggtgcgagg
      361 ccagctcggg ggcaccgtgg agctgccgtg ccacctgctg ccacctgttc ctggactgta
      421 catctccctg gtgacctggc agcgcccaga tgcacctgcg aaccaccaga atgtggccgc
      481 cttccaccct aagatgggtc ccagcttccc cagcccgaag cctggcagcg agcggctgtc
      541 cttcgtctct gccaagcaga gcactgggca agacacagag gcagagctcc aggacgccac
      601 gctggccctc cacgggctca cggtggagga cgagggcaac tacacttgcg agtttgccac
      661 cttccccaag gggtccgtcc gagggatgac ctggctcaga gtcatagcca agcccaagaa
      721 ccaagctgag gcccagaagg tcacgttcag ccaggaccct acgacagtgg ccctctgcat
      781 ctccaaagag ggccgcccac ctgcccggat ctcctggctc tcatccctgg actgggaagc
      841 caaagagact caggtgtcag ggaccctggc cggaactgtc actgtcacca gccgcttcac
      901 cttggtgccc tcgggccgag cagatggtgt cacggtcacc tgcaaagtgg agcatgagag
      961 cttcgaggaa ccagccctga tacctgtgac cctctctgta cgctaccctc ctgaagtgtc
     1021 catctccggc tatgatgaca actggtacct cggccgtact gatgccaccc tgagctgtga
     1081 cgtccgcagc aacccagagc ccacgggcta tgactggagc acgacctcag gcaccttccc
     1141 gacctccgca gtggcccagg gctcccagct ggtcatccac gcagtggaca gtctgttcaa
     1201 taccaccttc gtctgcacag tcaccaatgc cgtgggcatg ggccgcgctg agcaggtcat
     1261 ctttgtccga gagaccccca acacagcagg cgcaggggcc acaggcggca tcatcggggg
     1321 catcatcgcc gccatcattg ctactgctgt ggctgccacg ggcatcctta tctgccggca
     1381 gcagcggaag gagcagacgc tgcagggggc agaggaggac gaagacctgg agggacctcc
     1441 ctcctacaag ccaccgaccc caaaagcgaa gctggaggca caggagatgc cctcccagct
     1501 cttcactctg ggggcctcgg agcacagccc actcaagacc ccctactttg atgctggcgc
     1561 ctcatgcact gagcaggaaa tgcctcgata ccatgagctg cccaccttgg aagaacggtc
     1621 aggacccttg caccctggag ccacaagcct ggggtccccc atcccggtgc ctccagggcc
     1681 acctgctgtg gaagacgttt ccctggatct agaggatgag gagggggagg aggaggaaga
     1741 gtatctggac aagatcaacc ccatctatga tgctctgtcc tatagcagcc cctctgattc
     1801 ctaccagggc aaaggctttg tcatgtcccg ggccatgtat gtgtgagctg ccatgcgcct
     1861 ggcgtctcac atctcacctg ttgatccctt agctttcttg ccaaggatct agtgccccct
     1921 gacctctggc caggccactg tcagttaaca catatgcatt ccatttgtga tgtctacctt
     1981 ggtggctcca ctatgacccc taacccatga gcccagagaa attcaccgtg ataatggaat
     2041 cctggcaacc ttatctcatg aggcaggagg tggggaaggt gcttctgcac aacctctgat
     2101 cccaaggact cctctcccag actgtgacct tagaccatac ctctcacccc ccaatgcctc
     2161 gactccccca aaatcacaaa gaagacccta gacctataat ttgtcttcag gtagtaaatt
     2221 cccaataggt ctgctggagt gggcgctgag ggctccctgc tgctcagacc tgagccctcc
     2281 aggcagcagg gtcccactta ccccctcccc accctgttcc ccaaaggtgg gaaagagggg
     2341 attccccagc ccaaggcagg gttttcccag caccctcctg taagcagaag tctcagggtc
     2401 cagacccttc cctgagcccc cacccccacc ccaattcctg cctaccaagc aagcagcccc
     2461 agcctagggt cagacagggt gagcctcata cagactgtgc cttgatggcc ccagccttgg
     2521 gagaagaatt tactgttaac ctggaagact actgaatcat tttacccttg cccagtggaa
     2581 taggacctaa acatccccct tccggggaaa gtgggtcatc tgaattgggg gtagcaattg
     2641 atactgtttt gtaaactaca tttcctacaa aatatgaatt tatactttga
//
LOCUS       NM_001042750            6179 bp    mRNA    linear   PRI 06-AUG-2023
DEFINITION  Homo sapiens STAG2 cohesin complex component (STAG2), transcript
            variant 2, mRNA.
ACCESSION   NM_001042750
VERSION     NM_001042750.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6179)
  AUTHORS   Katamesh B, Nanaa A, He R, Viswanatha D, Nguyen P, Greipp P,
            Bessonen K, Gangat N, Begna K, Mangaonkar A, Patnaik M, Hogan WJ,
            Tefferi A, Litzow M, Shah MV, Yi CA, Foran J, Badar T, Alkhateeb HB
            and Al-Kali A.
  TITLE     Clinical and prognostic impact of STAG2 mutations in myeloid
            neoplasms: the Mayo Clinic experience
  JOURNAL   Blood Adv 7 (8), 1351-1355 (2023)
   PUBMED   36477202
  REMARK    GeneRIF: Clinical and prognostic impact of STAG2 mutations in
            myeloid neoplasms: the Mayo Clinic experience.
REFERENCE   2  (bases 1 to 6179)
  AUTHORS   Eckardt JN, Stasik S, Rollig C, Sauer T, Scholl S, Hochhaus A,
            Crysandt M, Brummendorf TH, Naumann R, Steffen B, Kunzmann V,
            Einsele H, Schaich M, Burchert A, Neubauer A, Schafer-Eckart K,
            Schliemann C, Krause SW, Herbst R, Hanel M, Hanoun M, Kaiser U,
            Kaufmann M, Racil Z, Mayer J, Cerqueira T, Kroschinsky F, Berdel WE,
            Serve H, Muller-Tidow C, Platzbecker U, Baldus CD, Schetelig J,
            Siepmann T, Bornhauser M, Middeke JM and Thiede C.
  TITLE     Alterations of cohesin complex genes in acute myeloid leukemia:
            differential co-mutations, clinical presentation and impact on
            outcome
  JOURNAL   Blood Cancer J 13 (1), 18 (2023)
   PUBMED   36693840
  REMARK    GeneRIF: Alterations of cohesin complex genes in acute myeloid
            leukemia: differential co-mutations, clinical presentation and
            impact on outcome. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6179)
  AUTHORS   Shulman DS, Chen S, Hall D, Nag A, Thorner AR, Lessnick SL,
            Stegmaier K, Janeway KA, DuBois SG, Krailo MD, Barkauskas DA, Church
            AJ and Crompton BD.
  TITLE     Adverse prognostic impact of the loss of STAG2 protein expression in
            patients with newly diagnosed localised Ewing sarcoma: A report from
            the Children's Oncology Group
  JOURNAL   Br J Cancer 127 (12), 2220-2226 (2022)
   PUBMED   36221002
  REMARK    GeneRIF: Adverse prognostic impact of the loss of STAG2 protein
            expression in patients with newly diagnosed localised Ewing sarcoma:
            A report from the Children's Oncology Group.
REFERENCE   4  (bases 1 to 6179)
  AUTHORS   Athans S, Krishnan N, Ramakrishnan S, Cortes Gomez E, Lage-Vickers
            S, Rak M, Kazmierczak Z, Ohm J, Attwood K, Wang J and Woloszynska A.
  TITLE     STAG2 expression is associated with adverse survival outcomes and
            regulates cell phenotype in muscle-invasive bladder cancer
  JOURNAL   Cancer Res Commun 2 (10), 1129-1143 (2022)
   PUBMED   36275363
  REMARK    GeneRIF: STAG2 expression is associated with adverse survival
            outcomes and regulates cell phenotype in muscle-invasive bladder
            cancer.
REFERENCE   5  (bases 1 to 6179)
  AUTHORS   Barwe SP, Sebastian A, Sidhu I, Kolb EA and Gopalakrishnapillai A.
  TITLE     Modeling Down Syndrome Myeloid Leukemia by Sequential Introduction
            of GATA1 and STAG2 Mutations in Induced Pluripotent Stem Cells with
            Trisomy 21
  JOURNAL   Cells 11 (4), 628 (2022)
   PUBMED   35203280
  REMARK    GeneRIF: Modeling Down Syndrome Myeloid Leukemia by Sequential
            Introduction of GATA1 and STAG2 Mutations in Induced Pluripotent
            Stem Cells with Trisomy 21. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 6179)
  AUTHORS   Gregson HC, Schmiesing JA, Kim JS, Kobayashi T, Zhou S and Yokomori
            K.
  TITLE     A potential role for human cohesin in mitotic spindle aster assembly
  JOURNAL   J Biol Chem 276 (50), 47575-47582 (2001)
   PUBMED   11590136
REFERENCE   7  (bases 1 to 6179)
  AUTHORS   Sumara I, Vorlaufer E, Gieffers C, Peters BH and Peters JM.
  TITLE     Characterization of vertebrate cohesin complexes and their
            regulation in prophase
  JOURNAL   J Cell Biol 151 (4), 749-762 (2000)
   PUBMED   11076961
REFERENCE   8  (bases 1 to 6179)
  AUTHORS   Carramolino L, Lee BC, Zaballos A, Peled A, Barthelemy I, Shav-Tal
            Y, Prieto I, Carmi P, Gothelf Y, Gonzalez de Buitrago G, Aracil M,
            Marquez G, Barbero JL and Zipori D.
  TITLE     SA-1, a nuclear protein encoded by one member of a novel gene
            family: molecular cloning and detection in hemopoietic organs
  JOURNAL   Gene 195 (2), 151-159 (1997)
   PUBMED   9305759
  REMARK    Erratum:[Gene 1998 Jan 12;206(2):283]
REFERENCE   9  (bases 1 to 6179)
  AUTHORS   Wu C, Friedlander P, Lamoureux C, Zannis-Hadjopoulos M and Price GB.
  TITLE     cDNA clones contain autonomous replication activity
  JOURNAL   Biochim Biophys Acta 1174 (3), 241-257 (1993)
   PUBMED   7690594
REFERENCE   10  (bases 1 to 6179)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301702
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CR749433.1, SRR14038194.1284828.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371145.8/ ENSP00000360187.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA214149.1, CR749433.1,
            BC001765.1, CB250478.1, BC017095.1 and AA428995.1.
            On Jun 2, 2019 this sequence version replaced NM_001042750.1.
            Summary: The protein encoded by this gene is a subunit of the
            cohesin complex, which regulates the separation of sister
            chromatids during cell division. Targeted inactivation of this gene
            results in chromatid cohesion defects and aneuploidy, suggesting
            that genetic disruption of cohesin is a cause of aneuploidy in
            human cancer. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Sep 2013].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6179
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq25"
     gene            1..6179
                     /gene="STAG2"
                     /gene_synonym="bA517O1.1; HPE13; MKMS; NEDXCF; SA-2; SA2;
                     SCC3B"
                     /note="STAG2 cohesin complex component"
                     /db_xref="GeneID:10735"
                     /db_xref="HGNC:HGNC:11355"
                     /db_xref="MIM:300826"
     misc_feature    287..289
                     /gene="STAG2"
                     /gene_synonym="bA517O1.1; HPE13; MKMS; NEDXCF; SA-2; SA2;
                     SCC3B"
                     /note="upstream in-frame stop codon"
     CDS             314..4120
                     /gene="STAG2"
                     /gene_synonym="bA517O1.1; HPE13; MKMS; NEDXCF; SA-2; SA2;
                     SCC3B"
                     /note="isoform a is encoded by transcript variant 2; SCC3
                     homolog 2; cohesin subunit SA-2; SA2 stromalin; sister
                     chromatid cohesion 3 homolog B; stromal antigen 2"
                     /codon_start=1
                     /product="cohesin subunit SA-2 isoform a"
                     /protein_id="NP_001036215.1"
                     /db_xref="CCDS:CCDS43990.1"
                     /db_xref="GeneID:10735"
                     /db_xref="HGNC:HGNC:11355"
                     /db_xref="MIM:300826"
                     /translation="MIAAPEIPTDFNLLQESETHFSSDTDFEDIEGKNQKQGKGKTCKK
                     GKKGPAEKGKGGNGGGKPPSGPNRMNGHHQQNGVENMMLFEVVKMGKSAMQSVVDDWIE
                     SYKHDRDIALLDLINFFIQCSGCKGVVTAEMFRHMQNSEIIRKMTEEFDEDSGDYPLTM
                     AGPQWKKFKSSFCEFIGVLVRQCQYSIIYDEYMMDTVISLLTGLSDSQVRAFRHTSTLA
                     AMKLMTALVNVALNLSINMDNTQRQYEAERNKMIGKRANERLELLLQKRKELQENQDEI
                     ENMMNAIFKGVFVHRYRDAIAEIRAICIEEIGIWMKMYSDAFLNDSYLKYVGWTMHDKQ
                     GEVRLKCLTALQGLYYNKELNSKLELFTSRFKDRIVSMTLDKEYDVAVQAIKLLTLVLQ
                     SSEEVLTAEDCENVYHLVYSAHRPVAVAAGEFLYKKLFSRRDPEEDGMMKRRGRQGPNA
                     NLVKTLVFFFLESELHEHAAYLVDSMWDCATELLKDWECMNSLLLEEPLSGEEALTDRQ
                     ESALIEIMLCTIRQAAECHPPVGRGTGKRVLTAKEKKTQLDDRTKITELFAVALPQLLA
                     KYSVDAEKVTNLLQLPQYFDLEIYTTGRLEKHLDALLRQIRNIVEKHTDTDVLEACSKT
                     YHALCNEEFTIFNRVDISRSQLIDELADKFNRLLEDFLQEGEEPDEDDAYQVLSTLKRI
                     TAFHNAHDLSKWDLFACNYKLLKTGIENGDMPEQIVIHALQCTHYVILWQLAKITESSS
                     TKEDLLRLKKQMRVFCQICQHYLTNVNTTVKEQAFTILCDILMIFSHQIMSGGRDMLEP
                     LVYTPDSSLQSELLSFILDHVFIEQDDDNNSADGQQEDEASKIEALHKRRNLLAAFCKL
                     IVYTVVEMNTAADIFKQYMKYYNDYGDIIKETMSKTRQIDKIQCAKTLILSLQQLFNEM
                     IQENGYNFDRSSSTFSGIKELARRFALTFGLDQLKTREAIAMLHKDGIEFAFKEPNPQG
                     ESHPPLNLAFLDILSEFSSKLLRQDKRTVYVYLEKFMTFQMSLRREDVWLPLMSYRNSL
                     LAGGDDDTMSVISGISSRGSTVRSKKSKPSTGKRKVVEGMQLSLTEESSSSDSMWLSRE
                     QTLHTPVMMQTPQLTSTIMREPKRLRPEDSFMSVYPMQTEHHQTPLDYNTQVTWMLAQR
                     QQEEARQQQERAAMSYVKLRTNLQHAIRRGTSLMEDDEEPIVEDVMMSSEGRIEDLNEG
                     MDFDTMDIDLPPSKNRRERTELKPDFFDPASIMDESVLGVSMF"
     regulatory      6002..6007
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STAG2"
                     /gene_synonym="bA517O1.1; HPE13; MKMS; NEDXCF; SA-2; SA2;
                     SCC3B"
                     /note="hexamer: AATAAA"
     polyA_site      6022
                     /gene="STAG2"
                     /gene_synonym="bA517O1.1; HPE13; MKMS; NEDXCF; SA-2; SA2;
                     SCC3B"
                     /note="major polyA site"
     regulatory      6153..6158
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STAG2"
                     /gene_synonym="bA517O1.1; HPE13; MKMS; NEDXCF; SA-2; SA2;
                     SCC3B"
                     /note="hexamer: AATAAA"
     polyA_site      6179
                     /gene="STAG2"
                     /gene_synonym="bA517O1.1; HPE13; MKMS; NEDXCF; SA-2; SA2;
                     SCC3B"
ORIGIN
        1 ctctcttcct cccttcctag agagggaaca acattcatgt gacgggcccc tctgcttctc
       61 ccccgcccca tcatctccag cgcgtggtgg gggaactgct ggggaaggcg attggcatcg
      121 atctctccat cccttccgag gcccgacttc ggtggccacc gagtactaaa ttcacttggg
      181 aataaaagaa aaacataaga aaattataag agaaaggaat tgtcttagaa gaaagaaggc
      241 aagccaccat tttacccacg taaatatatg aatatatttc tgacattgag gtgttccaga
      301 agatgataaa gaaatgatag cagctccaga aataccaact gattttaatc tactacagga
      361 gtcagaaaca catttttctt ctgacacaga ttttgaagat atcgaaggaa aaaaccaaaa
      421 gcaaggcaaa ggcaaaactt gtaaaaaagg caaaaagggc ccagcagaaa agggcaaagg
      481 tggaaatgga ggaggaaaac ctccttctgg tccaaaccga atgaatggtc atcaccaaca
      541 gaatggagtg gaaaacatga tgttgtttga agttgttaaa atgggcaaga gtgctatgca
      601 gtcggtggta gatgattgga tagaatcata caagcatgac cgagatatag cacttcttga
      661 ccttatcaac ttttttattc agtgttcagg ctgtaaagga gttgtcacag cagaaatgtt
      721 tagacatatg cagaactctg agataattcg aaaaatgact gaagaattcg atgaggatag
      781 tggagattat ccacttacca tggctggtcc tcagtggaag aagttcaaat ccagtttttg
      841 tgaattcatt ggcgtgttag tacggcaatg tcaatatagt atcatatatg atgagtatat
      901 gatggataca gtcatttcac ttcttacagg attgtctgac tcacaagtca gagcatttcg
      961 acatacaagc accctggcag ctatgaagtt gatgacagct ttggtgaatg tggcactaaa
     1021 tcttagcatt aatatggata atacacaaag acaatatgaa gcagaacgga ataaaatgat
     1081 tggaaaacga gccaatgaga ggctagaact cctgctacaa aagcggaaag agcttcagga
     1141 aaatcaagat gaaatagaaa atatgatgaa tgcaatattt aaaggagtgt ttgtacatag
     1201 ataccgtgat gcgatagctg aaattcgagc tatttgcatt gaagagattg gcatttggat
     1261 gaagatgtat agtgatgcct ttcttaatga cagttattta aaatatgttg gttggactat
     1321 gcatgataag caaggtgaag taagactcaa atgtcttact gctctacaag ggctttatta
     1381 taacaaagag cttaattcca aactggaact ttttaccagt cggttcaagg atagaattgt
     1441 gtctatgacc cttgacaaag aatatgatgt tgcagtacaa gcaataaaat tactcactct
     1501 tgttttacag agtagtgaag aagttctcac tgcagaagat tgtgaaaatg tctatcatct
     1561 ggtttattca gctcaccggc cagtagcagt agcagctgga gaatttctct acaaaaagct
     1621 cttcagtcgt agagatccag aggaggatgg aatgatgaaa agaagaggaa gacaaggtcc
     1681 aaatgccaac cttgttaaga cattggtttt tttctttcta gaaagtgagt tacatgagca
     1741 tgcagcatac cttgtggata gcatgtggga ctgtgctact gagctgctga aagactggga
     1801 atgtatgaat agcttgttac tggaagagcc acttagtgga gaggaagcac taacagatag
     1861 gcaagagagt gctctgattg aaataatgct ttgtaccatt agacaagcgg ctgaatgtca
     1921 tcctcccgtg ggaagaggga caggaaaaag ggtgcttaca gcaaaggaga agaagacaca
     1981 gttggatgat aggacaaaaa tcactgagct ttttgccgtg gcccttcctc agttattagc
     2041 aaaatactct gtagatgcag aaaaggtgac taacttgttg cagttgcctc agtactttga
     2101 tttggaaata tataccactg gacgattaga aaagcatttg gatgccttat tgcgacagat
     2161 ccggaatatt gtagagaagc acacagatac agatgttttg gaagcatgtt ctaaaactta
     2221 ccatgcactc tgtaatgaag agttcacaat cttcaacaga gtagatattt caagaagtca
     2281 actgatagat gaattggcag ataaatttaa ccggcttctt gaagattttc tgcaagaggg
     2341 tgaagaacct gatgaagatg atgcatatca ggtattgtca acattgaaga ggatcactgc
     2401 ttttcataat gcccatgacc tttcaaagtg ggatttattt gcttgtaatt acaaactctt
     2461 gaaaactgga atcgaaaatg gagacatgcc tgagcagatt gttattcacg cactgcagtg
     2521 tactcactat gtaatccttt ggcaacttgc taagataact gaaagcagct ctacaaagga
     2581 ggacttgctg cgtttaaaga aacaaatgag agtattttgt cagatatgtc aacattacct
     2641 gaccaacgtg aatactactg ttaaggaaca ggccttcact attctgtgtg atattttgat
     2701 gatcttcagc catcagatta tgtcaggagg gcgtgacatg ttagagccat tagtgtatac
     2761 ccctgattct tcattgcagt ctgagttgct cagctttatt ttggatcatg tcttcattga
     2821 acaggatgat gataataata gtgcagatgg tcagcaagag gatgaagcca gtaaaattga
     2881 agctctgcac aagagaagaa atttacttgc agcattttgt aagctaattg tatatactgt
     2941 ggtggagatg aatacagctg cagatatctt caaacagtat atgaagtatt ataatgacta
     3001 tggagatatc atcaaagaaa caatgagtaa aacaaggcag atagacaaaa ttcagtgtgc
     3061 taagaccctt attctcagtc tgcaacagct ttttaatgaa atgatacaag aaaatggcta
     3121 taattttgat agatcatcct ctacatttag tggcataaaa gaacttgctc gacgttttgc
     3181 tttaactttt ggacttgatc agttgaaaac aagagaagcc attgccatgc tacacaaaga
     3241 tggcatagaa tttgctttta aagagcctaa tccgcaaggg gagagccatc cacctttaaa
     3301 tttggcattt cttgatattc tgagtgaatt ttcttctaaa ctacttcgac aagacaaaag
     3361 aacagtgtat gtttacttgg aaaagttcat gacctttcag atgtcactcc gaagagagga
     3421 tgtgtggctt ccactgatgt cttaccgaaa ttctttgcta gctggtggtg atgatgacac
     3481 catgtcagtc attagtggaa tcagcagccg ggggtcaaca gtacggagta aaaaatcaaa
     3541 accatctaca ggaaaacgga aagtggttga gggcatgcag ctttcactca ctgaagaaag
     3601 tagtagtagt gacagtatgt ggttaagcag agaacaaaca ctgcacaccc ctgttatgat
     3661 gcagacacca caactcacct ccactattat gagagagccc aaaagattac ggcctgagga
     3721 tagcttcatg agtgtttatc caatgcagac tgaacatcat caaacacctc ttgattataa
     3781 cacgcaggta acatggatgt tagctcaaag acaacaagag gaagcaaggc aacagcagga
     3841 gagagcagca atgagctatg ttaaactgcg aactaatctt cagcatgcca ttcggcgtgg
     3901 cacaagccta atggaagatg atgaagagcc aattgtggaa gatgttatga tgtcctcaga
     3961 agggaggatt gaggatctta atgagggaat ggattttgac accatggata tagatttgcc
     4021 accatcaaag aacagacgag agagaacaga actgaagcct gatttctttg atccagcttc
     4081 aattatggat gaatcagttc ttggagtgtc aatgttttaa taccagtaca caattaaatc
     4141 tgtggtgaag tcattttcta agtggaagag gaaattttaa agtgtggtag atacagtgaa
     4201 attctgtaca gatttttctc taaggagaat atgacatgct tatgcttacc aagatcaagt
     4261 gcattgaggg gcagttttgt ttgcctgaat aaacgtaaag gacaagtaaa caatttgatg
     4321 ataagctaca gtttttctta gaaagtaaat attttattta tgcgctgtta gttggctttt
     4381 gaatcgatta tttcatgctt ttttttaaaa aaaaaaaaaa acaaaataac aatctgaaga
     4441 ggcatttggt acagatatga attctcttac atttatttac tggttgtact aaataatgat
     4501 gacctctgct ggatttctgt ttacatccag aaaacaatgt taaggatgta tttattcccc
     4561 taccctgaag aaagtgtagg atagaattgt ttttagcatt ctaaatttaa atgcttaaaa
     4621 cgtcaatcaa caaaactttg ttttaaatat tgtaattgtg gagaaaagta aacttataag
     4681 cagaactttt acaatttttt catctaaaag tattttaaga tatttttaaa atccaagagc
     4741 ttctctatac ttttcagaaa tatccagatg cagtgaactg ccagaaggta accagtctca
     4801 aacatgctta tcccattatc aaccctgaaa gtttgcttgt cctttaagat aaaaatgtaa
     4861 tgttgtgata ttccttccag taatgccact gtattttgtc tccaaataaa agaagcttat
     4921 tgtagtatgt ttgcagaaaa attctaaaca aaaattatac agcttattag agtgtgggaa
     4981 tagggatcta aattttaaat aaaattatat atatatataa attggtgctg attttataat
     5041 tgcgcagttt gtttagtttt ttcttacttt taaattccaa cttaaaatta tgaggtttca
     5101 gaaatatatt gaaagtttaa caatgtttaa aaatagaaaa gcatgagtgt tcatgcttta
     5161 aaatgatttt taaatttgta ttttatattg ttttatctat ctgtctttgc aagcagtctt
     5221 caggttaaag atacttctaa caggttacag tacatttcct ctgtatgtaa attagatggg
     5281 ataatagaat tcataaccca taatattctt tgaaagctaa gctttaaact tcattttatg
     5341 tcctttcaca aataaattag tttaaaacag aaagtggcta cttgccattt tgacatcaac
     5401 tcattttgcg aggcttaggc agctagacat cgtttaaaac aaaatattaa cttatattac
     5461 atgtgtatct atctattgtc agtcgtctct cagttcttga ggtatattat tttaatcatt
     5521 ccatgcctta atatgcttgc aatacaagaa tatcttcaga tgggtgaata ccaaaaggct
     5581 ttcagttttt agtcagaaat caagcattgg gctgtggtag ccaaaaacca taggttagct
     5641 aaaaagatca tgatacaatt attttattaa gtcatggtta ataacaaatg aatccagact
     5701 tgtctaacag attttccatc aacaaatatt gttatgtgca aaagtattgc ctatgttgtt
     5761 ttacacacca ctgcattaac tagaactgct gagaggactg tatatatgat tttaaaccta
     5821 agttgatttt ttttctcact cttgaaagga gtacttcttt gtgaaagcag ttcttacagc
     5881 tttgttttca accagctaaa aatgttttat atattactct aacctgttgt cctccacatt
     5941 ctattgtcct aattgtactg ttttctgatt tgtatttatg tcttgagaca gtaacttttt
     6001 gaataaaaat aaacctacag tatgttgtat gttttctctt gtactcaaag ggggagggtg
     6061 gctataaatg gtttgcaaat ttatatctat tatcacatct tttaatgtgt ttggggaata
     6121 atttatagag aataccatca gtttatattt ttaataaatc atatgtattt acaatgaaa
//
LOCUS       NM_001043229            2034 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens citrate synthase lysine methyltransferase (CSKMT),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001043229
VERSION     NM_001043229.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2034)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2034)
  AUTHORS   Malecki J, Jakobsson ME, Ho AYY, Moen A, Rustan AC and Falnes PO.
  TITLE     Uncovering human METTL12 as a mitochondrial methyltransferase that
            modulates citrate synthase activity through metabolite-sensitive
            lysine methylation
  JOURNAL   J Biol Chem 292 (43), 17950-17962 (2017)
   PUBMED   28887308
REFERENCE   3  (bases 1 to 2034)
  AUTHORS   Rhein VF, Carroll J, Ding S, Fearnley IM and Walker JE.
  TITLE     Human METTL12 is a mitochondrial methyltransferase that modifies
            citrate synthase
  JOURNAL   FEBS Lett 591 (12), 1641-1652 (2017)
   PUBMED   28391595
  REMARK    GeneRIF: Data suggest that METTL12, localized in mitochondrial
            matrix, modifies/methylates Lys368 of citrate synthase in external
            surface region close to its catalytic site; addition/removal of
            methylation has no effect on citrate synthase activity; Lys368
            occurs in highly conserved sequence of amino acid residues of
            citrate synthase.
REFERENCE   4  (bases 1 to 2034)
  AUTHORS   Weber MJ.
  TITLE     Mammalian small nucleolar RNAs are mobile genetic elements
  JOURNAL   PLoS Genet 2 (12), e205 (2006)
   PUBMED   17154719
  REMARK    Erratum:[PLoS Genet. 2007 Feb;3(2):e36]
REFERENCE   5  (bases 1 to 2034)
  AUTHORS   Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd
            C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E,
            Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K,
            Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC,
            Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES and
            Sakaki Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
REFERENCE   6  (bases 1 to 2034)
  AUTHORS   Choy KW, Wang CC, Ogura A, Lau TK, Rogers MS, Ikeo K, Gojobori T,
            Lam DS and Pang CP.
  TITLE     Genomic annotation of 15,809 ESTs identified from pooled early
            gestation human eyes
  JOURNAL   Physiol Genomics 25 (1), 9-15 (2006)
   PUBMED   16368877
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.241705.1,
            SRR1803611.81617.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144335,
            SAMEA2145245 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000532971.2/ ENSP00000431287.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001458.6, BY796224.2, BX348415.2 and BG676615.1.
            On Nov 22, 2018 this sequence version replaced NM_001043229.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2034
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     gene            1..2034
                     /gene="CSKMT"
                     /gene_synonym="CS-KMT; METTL12; U99HG"
                     /note="citrate synthase lysine methyltransferase"
                     /db_xref="GeneID:751071"
                     /db_xref="HGNC:HGNC:33113"
                     /db_xref="MIM:617897"
     misc_feature    15..17
                     /gene="CSKMT"
                     /gene_synonym="CS-KMT; METTL12; U99HG"
                     /note="upstream in-frame stop codon"
     CDS             255..977
                     /gene="CSKMT"
                     /gene_synonym="CS-KMT; METTL12; U99HG"
                     /EC_number="2.1.1.-"
                     /note="methyltransferase-like protein 12, mitochondrial;
                     methyltransferase like 12; citrate synthase-lysine
                     N-methyltransferase CSKMT, mitochondrial"
                     /codon_start=1
                     /product="citrate synthase-lysine N-methyltransferase
                     CSKMT, mitochondrial precursor"
                     /protein_id="NP_001036694.1"
                     /db_xref="CCDS:CCDS41657.1"
                     /db_xref="GeneID:751071"
                     /db_xref="HGNC:HGNC:33113"
                     /db_xref="MIM:617897"
                     /translation="MAALRRMLHLPSLMMGTCRPFAGSLADSCLADRCLWDRLHAQPRL
                     GTVPTFDWFFGYDEVQGLLLPLLQEAQAASPLRVLDVGCGTSSLCTGLYTKSPHPVDVL
                     GVDFSPVAVAHMNSLLEGGPGQTPLCPGHPASSLHFMHADAQNLGAVASSGSFQLLLDK
                     GTWDAVARGGLPRAYQLLSECLRVLNPQGTLIQFSDEDPDVRLPCLEQGSYGWTVTVQE
                     LGPFRGITYFAYLIQGSH"
     transit_peptide 255..338
                     /gene="CSKMT"
                     /gene_synonym="CS-KMT; METTL12; U99HG"
                     /note="Mitochondrion.
                     /evidence=ECO:0000269|PubMed:28887308; propagated from
                     UniProtKB/Swiss-Prot (A8MUP2.1)"
     regulatory      973..978
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSKMT"
                     /gene_synonym="CS-KMT; METTL12; U99HG"
                     /note="hexamer: ATTAAA"
     polyA_site      997
                     /gene="CSKMT"
                     /gene_synonym="CS-KMT; METTL12; U99HG"
                     /note="major polyA site"
     regulatory      2014..2019
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSKMT"
                     /gene_synonym="CS-KMT; METTL12; U99HG"
                     /note="hexamer: ATTATA"
     polyA_site      2034
                     /gene="CSKMT"
                     /gene_synonym="CS-KMT; METTL12; U99HG"
ORIGIN
        1 ctttcggagg gtggtgagct agtctgcgga cgctgtatac cctcctccac ttcccgctgc
       61 agccaataaa ggccgttcct accatagtct gtgtccgcgt tcttttttcc gggactgcag
      121 agttcgggga agctgtacgc cgcctttcgc tacgcggaat ttgcagatct tcccctggac
      181 ctcaggcctc tccggctgga gtagggtgga cgcttcacat aagcttctct ggtcgaactt
      241 acccgaatct ccagatggcc gcgctgcgtc gaatgctcca cttgccgagc ctgatgatgg
      301 ggacgtgccg cccctttgcg ggctcactgg ctgatagttg cctggcggac cgctgtctct
      361 gggatcggct gcatgcccag cctcgtttgg gcactgtccc caccttcgac tggttctttg
      421 gatacgacga agtccagggg ctcctactgc cattgctgca ggaggcacag gctgccagtc
      481 ctctgcgagt gctggatgtg ggctgtggga cttccagcct atgtacaggc ctctacacca
      541 aatctccaca cccagtggat gtgctggggg tggacttttc tcctgtggct gtggcccaca
      601 tgaatagcct cctggagggt ggcccaggcc aaacacctct atgccctgga caccctgcct
      661 caagcctcca cttcatgcac gccgatgctc agaacctggg ggctgtggct tcttcaggct
      721 ctttccaact actgctggac aaaggcacat gggatgctgt tgcccgggga ggtctgccta
      781 gggcttacca gcttctatca gaatgcttga gggttctaaa ccctcagggg accctgattc
      841 agttctcaga tgaggaccct gatgtgcgac tgccctgcct ggaacaaggg tcctatggct
      901 ggactgtgac tgtgcaggag ctaggcccgt tcaggggcat cacctacttt gcttacttga
      961 ttcaaggctc tcattaaaga cattttagta gtcctgaccc tagtatttct gtgggcaagg
     1021 agagggctga agaactgtct ttgcaagcta tctggctgca aagtgagaat ttgagtcctg
     1081 gcttccacat ttactagctg ggtgccatat tgctgaatgt ttctgttccc cagtttactc
     1141 atctgcagag tgagaataac ttggagttac ggagattaca tacaatgatg tgcgcaatat
     1201 ttagcacaaa atgaatgctg aaaagagaag gtacaattgg gtcattcccc agtttcaact
     1261 aactggagct cctaaaagca gcagacagga actgaatcaa aacccctgcg ctgactgact
     1321 tgtataatct agtggcctaa cctgtaagcc tcatttttgt cacctgtaaa aggagattgt
     1381 aagaggatgg gtataaggag cttcataaac ctggatgaga tatttgaggg ggagggaaca
     1441 atacttaccc tcaaagctat taggaggcag gagatgggaa tattccacaa agccacttct
     1501 acaaacacgg gagcctgttg agtcccagaa gggacagtgg ttggtggctt ccagacatgc
     1561 tgtgtcctca agaatccaac aagcatcttc ttcatcctgg tcctgccccc agctgagtcc
     1621 agcgttaaat gttcttaaag gacttctagg gtcctgtggg ctccaagccc agcctgggat
     1681 ggaggaagag aggggacaaa aatattactg atatattatc aaattacaaa actaggccag
     1741 gcatgctggc tcatacctat aatcacagca ctttgggagg ccaaggtggg cagattgctt
     1801 gagccctggc aataaagtga cacccctaac tctacaaaaa caaatgagcc cgggatagtg
     1861 gcacaggcat gtagttccaa ctactcagga ggctgagctg ggaggactgc ttgaaccctg
     1921 ggaggtcaaa gctgcaatgg gccatgataa gctgctgcac ttgagctaaa aattaatttc
     1981 tgtggtattt tttgcttata aaaaaataga gcaattatat cactaagagc ctaa
//
LOCUS       NM_001044               3942 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens solute carrier family 6 member 3 (SLC6A3), mRNA.
ACCESSION   NM_001044
VERSION     NM_001044.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3942)
  AUTHORS   Luo G, Shi X, Jiang L, Wu L, Yi C, Xian W, Liu Y, Wen F, Qian H,
            Chen J, Fu X, Liu J, Zhang X and Chen L.
  TITLE     Effects of STN-DBS surgery on cerebral glucose metabolism and
            distribution of DAT in Parkinson's disease
  JOURNAL   Brain Behav 13 (8), e3172 (2023)
   PUBMED   37459244
  REMARK    GeneRIF: Effects of STN-DBS surgery on cerebral glucose metabolism
            and distribution of DAT in Parkinson's disease.
REFERENCE   2  (bases 1 to 3942)
  AUTHORS   Correa-Arzate L, Portilla-Robertson J, Ramirez-Jarquin JO,
            Jacinto-Aleman LF, Mejia-Velazquez CP, Villanueva-Sanchez FG and
            Rodriguez-Vazquez M.
  TITLE     LRP5, SLC6A3, and SOX10 Expression in Conventional Ameloblastoma
  JOURNAL   Genes (Basel) 14 (8), 1524 (2023)
   PUBMED   37628576
  REMARK    GeneRIF: LRP5, SLC6A3, and SOX10 Expression in Conventional
            Ameloblastoma. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3942)
  AUTHORS   Deng S, Zhang H, Gou R, Luo D, Liu Z, Zhu F and Xue W.
  TITLE     Structure-Based Discovery of a Novel Allosteric Inhibitor against
            Human Dopamine Transporter
  JOURNAL   J Chem Inf Model 63 (14), 4458-4467 (2023)
   PUBMED   37410882
  REMARK    GeneRIF: Structure-Based Discovery of a Novel Allosteric Inhibitor
            against Human Dopamine Transporter.
REFERENCE   4  (bases 1 to 3942)
  AUTHORS   Lee FJ, Liu F, Pristupa ZB and Niznik HB.
  TITLE     Direct binding and functional coupling of alpha-synuclein to the
            dopamine transporters accelerate dopamine-induced apoptosis
  JOURNAL   FASEB J 15 (6), 916-926 (2001)
   PUBMED   11292651
REFERENCE   5  (bases 1 to 3942)
  AUTHORS   Donovan DM, Vandenbergh DJ, Perry MP, Bird GS, Ingersoll R,
            Nanthakumar E and Uhl GR.
  TITLE     Human and mouse dopamine transporter genes: conservation of
            5'-flanking sequence elements and gene structures
  JOURNAL   Brain Res Mol Brain Res 30 (2), 327-335 (1995)
   PUBMED   7637582
REFERENCE   6  (bases 1 to 3942)
  AUTHORS   Kurian,M.A.
  TITLE     SLC6A3-Related Dopamine Transporter Deficiency Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   28749637
REFERENCE   7  (bases 1 to 3942)
  AUTHORS   Cook Shukla,L., Schulze,J., Farlow,J., Pankratz,N.D., Wojcieszek,J.
            and Foroud,T.
  TITLE     Parkinson Disease Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301402
REFERENCE   8  (bases 1 to 3942)
  AUTHORS   Giros B, el Mestikawy S, Godinot N, Zheng K, Han H, Yang-Feng T and
            Caron MG.
  TITLE     Cloning, pharmacological characterization, and chromosome assignment
            of the human dopamine transporter
  JOURNAL   Mol Pharmacol 42 (3), 383-390 (1992)
   PUBMED   1406597
REFERENCE   9  (bases 1 to 3942)
  AUTHORS   Vandenbergh DJ, Persico AM and Uhl GR.
  TITLE     A human dopamine transporter cDNA predicts reduced glycosylation,
            displays a novel repetitive element and provides racially-dimorphic
            TaqI RFLPs
  JOURNAL   Brain Res Mol Brain Res 15 (1-2), 161-166 (1992)
   PUBMED   1359373
REFERENCE   10  (bases 1 to 3942)
  AUTHORS   Bannon MJ, Poosch MS, Xia Y, Goebel DJ, Cassin B and Kapatos G.
  TITLE     Dopamine transporter mRNA content in human substantia nigra
            decreases precipitously with age
  JOURNAL   Proc Natl Acad Sci U S A 89 (15), 7095-7099 (1992)
   PUBMED   1353885
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: EF174603.1, M95167.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA1968968
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000270349.12/ ENSP00000270349.9
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026748.7 and EF174603.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001044.4.
            Summary: This gene encodes a dopamine transporter which is a member
            of the sodium- and chloride-dependent neurotransmitter transporter
            family. The 3' UTR of this gene contains a 40 bp tandem repeat,
            referred to as a variable number tandem repeat or VNTR, which can
            be present in 3 to 11 copies. Variation in the number of repeats is
            associated with idiopathic epilepsy, attention-deficit
            hyperactivity disorder, dependence on alcohol and cocaine,
            susceptibility to Parkinson disease and protection against nicotine
            dependence.[provided by RefSeq, Nov 2009].
            Sequence Note: Variation in the number of 40 bp repeats in the 3'
            UTR of this gene has been reported with a normal range of 3 to 11
            repeats. The Reference Sequence contains 10 copies of these
            repeats.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3942
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     gene            1..3942
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="solute carrier family 6 member 3"
                     /db_xref="GeneID:6531"
                     /db_xref="HGNC:HGNC:11049"
                     /db_xref="MIM:126455"
     CDS             139..2001
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="DA transporter; solute carrier family 6
                     (neurotransmitter transporter, dopamine), member 3;
                     dopamine transporter 1; solute carrier family 6
                     (neurotransmitter transporter), member 3"
                     /codon_start=1
                     /product="sodium-dependent dopamine transporter"
                     /protein_id="NP_001035.1"
                     /db_xref="CCDS:CCDS3863.1"
                     /db_xref="GeneID:6531"
                     /db_xref="HGNC:HGNC:11049"
                     /db_xref="MIM:126455"
                     /translation="MSKSKCSVGLMSSVVAPAKEPNAVGPKEVELILVKEQNGVQLTSS
                     TLTNPRQSPVEAQDRETWGKKIDFLLSVIGFAVDLANVWRFPYLCYKNGGGAFLVPYLL
                     FMVIAGMPLFYMELALGQFNREGAAGVWKICPILKGVGFTVILISLYVGFFYNVIIAWA
                     LHYLFSSFTTELPWIHCNNSWNSPNCSDAHPGDSSGDSSGLNDTFGTTPAAEYFERGVL
                     HLHQSHGIDDLGPPRWQLTACLVLVIVLLYFSLWKGVKTSGKVVWITATMPYVVLTALL
                     LRGVTLPGAIDGIRAYLSVDFYRLCEASVWIDAATQVCFSLGVGFGVLIAFSSYNKFTN
                     NCYRDAIVTTSINSLTSFSSGFVVFSFLGYMAQKHSVPIGDVAKDGPGLIFIIYPEAIA
                     TLPLSSAWAVVFFIMLLTLGIDSAMGGMESVITGLIDEFQLLHRHRELFTLFIVLATFL
                     LSLFCVTNGGIYVFTLLDHFAAGTSILFGVLIEAIGVAWFYGVGQFSDDIQQMTGQRPS
                     LYWRLCWKLVSPCFLLFVVVVSIVTFRPPHYGAYIFPDWANALGWVIATSSMAMVPIYA
                     AYKFCSLPGSFREKLAYAIAPEKDRELVDRGEVRQFTLRHWLKV"
     misc_feature    343..405
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01959.1);
                     transmembrane region"
     misc_feature    424..486
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01959.1);
                     transmembrane region"
     misc_feature    451..453
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="Contributes to high-affinity binding to cocaine.
                     /evidence=ECO:0000250|UniProtKB:Q61327; propagated from
                     UniProtKB/Swiss-Prot (Q01959.1); other site"
     misc_feature    556..618
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01959.1);
                     transmembrane region"
     misc_feature    679..681
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q01959.1); glycosylation site"
     misc_feature    700..702
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q01959.1); glycosylation site"
     misc_feature    751..753
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q01959.1); glycosylation site"
     misc_feature    850..906
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01959.1);
                     transmembrane region"
     misc_feature    931..984
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01959.1);
                     transmembrane region"
     misc_feature    1090..1143
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01959.1);
                     transmembrane region"
     misc_feature    1177..1242
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01959.1);
                     transmembrane region"
     misc_feature    1339..1398
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01959.1);
                     transmembrane region"
     misc_feature    1477..1533
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01959.1);
                     transmembrane region"
     misc_feature    1579..1641
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01959.1);
                     transmembrane region"
     misc_feature    1702..1761
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01959.1);
                     transmembrane region"
     misc_feature    1816..1872
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01959.1);
                     transmembrane region"
     misc_feature    1819..1908
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q01959.1);
                     Region: Interaction with TGFB1I1.
                     /evidence=ECO:0000269|PubMed:12177201"
     regulatory      2671..2676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="hexamer: AATAAA"
     polyA_site      2690
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="major polyA site"
     repeat_region   2753..3156
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="variable number of tandem repeats (VNTR)"
     regulatory      3917..3922
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="hexamer: AATAAA"
     polyA_site      3942
                     /gene="SLC6A3"
                     /gene_synonym="DAT; DAT1; PKDYS; PKDYS1"
                     /note="major polyA site"
ORIGIN
        1 gagaccgccc agcgctgcgg agcgggaggg gaggcttcgc ggaacgctct cggcgccagg
       61 actcgcgtgc aaagcccagg cccgggcggc cagaccaaga gggaagaagc acagaattcc
      121 tcaactccca gtgtgcccat gagtaagagc aaatgctccg tgggactcat gtcttccgtg
      181 gtggccccgg ctaaggagcc caatgccgtg ggcccgaagg aggtggagct catccttgtc
      241 aaggagcaga acggagtgca gctcaccagc tccaccctca ccaacccgcg gcagagcccc
      301 gtggaggccc aggatcggga gacctggggc aagaagatcg actttctcct gtccgtcatt
      361 ggctttgctg tggacctggc caacgtctgg cggttcccct acctgtgcta caaaaatggt
      421 ggcggtgcct tcctggtccc ctacctgctc ttcatggtca ttgctgggat gccacttttc
      481 tacatggagc tggccctcgg ccagttcaac agggaagggg ccgctggtgt ctggaagatc
      541 tgccccatac tgaaaggtgt gggcttcacg gtcatcctca tctcactgta tgtcggcttc
      601 ttctacaacg tcatcatcgc ctgggcgctg cactatctct tctcctcctt caccacggag
      661 ctcccctgga tccactgcaa caactcctgg aacagcccca actgctcgga tgcccatcct
      721 ggtgactcca gtggagacag ctcgggcctc aacgacactt ttgggaccac acctgctgcc
      781 gagtactttg aacgtggcgt gctgcacctc caccagagcc atggcatcga cgacctgggg
      841 cctccgcggt ggcagctcac agcctgcctg gtgctggtca tcgtgctgct ctacttcagc
      901 ctctggaagg gcgtgaagac ctcagggaag gtggtatgga tcacagccac catgccatac
      961 gtggtcctca ctgccctgct cctgcgtggg gtcaccctcc ctggagccat agacggcatc
     1021 agagcatacc tgagcgttga cttctaccgg ctctgcgagg cgtctgtttg gattgacgcg
     1081 gccacccagg tgtgcttctc cctgggcgtg gggttcgggg tgctgatcgc cttctccagc
     1141 tacaacaagt tcaccaacaa ctgctacagg gacgcgattg tcaccacctc catcaactcc
     1201 ctgacgagct tctcctccgg cttcgtcgtc ttctccttcc tggggtacat ggcacagaag
     1261 cacagtgtgc ccatcgggga cgtggccaag gacgggccag ggctgatctt catcatctac
     1321 ccggaagcca tcgccacgct ccctctgtcc tcagcctggg ccgtggtctt cttcatcatg
     1381 ctgctcaccc tgggtatcga cagcgccatg ggtggtatgg agtcagtgat caccgggctc
     1441 atcgatgagt tccagctgct gcacagacac cgtgagctct tcacgctctt catcgtcctg
     1501 gcgaccttcc tcctgtccct gttctgcgtc accaacggtg gcatctacgt cttcacgctc
     1561 ctggaccatt ttgcagccgg cacgtccatc ctctttggag tgctcatcga agccatcgga
     1621 gtggcctggt tctatggtgt tgggcagttc agcgacgaca tccagcagat gaccgggcag
     1681 cggcccagcc tgtactggcg gctgtgctgg aagctggtca gcccctgctt tctcctgttc
     1741 gtggtcgtgg tcagcattgt gaccttcaga cccccccact acggagccta catcttcccc
     1801 gactgggcca acgcgctggg ctgggtcatc gccacatcct ccatggccat ggtgcccatc
     1861 tatgcggcct acaagttctg cagcctgcct gggtcctttc gagagaaact ggcctacgcc
     1921 attgcacccg agaaggaccg tgagctggtg gacagagggg aggtgcgcca gttcacgctc
     1981 cgccactggc tcaaggtgta gagggagcag agacgaagac cccaggaagt catcctgcaa
     2041 tgggagagac acgaacaaac caaggaaatc taagtttcga gagaaaggag ggcaacttct
     2101 actcttcaac ctctactgaa aacacaaaca acaaagcaga agactcctct cttctgactg
     2161 tttacacctt tccgtgccgg gagcgcacct cgccgtgtct tgtgttgctg taataacgac
     2221 gtagatctgt gcagcgaggt ccaccccgtt gttgtccctg cagggcagaa aaacgtctaa
     2281 cttcatgctg tctgtgtgag gctccctccc tccctgctcc ctgctcccgg ctctgaggct
     2341 gccccagggg cactgtgttc tcaggcgggg atcacgatcc ttgtagacgc acctgctgag
     2401 aatccccgtg ctcacagtag cttcctagac catttacttt gcccatatta aaaagccaag
     2461 tgtcctgctt ggtttagctg tgcagaaggt gaaatggagg aaaccacaaa ttcatgcaaa
     2521 gtcctttccc gatgcgtggc tcccagcaga ggccgtaaat tgagcgttca gttgacacat
     2581 tgcacacaca gtctgttcag aggcattgga ggatgggggt cctggtatgt ctcaccagga
     2641 aattctgttt atgttcttgc agcagagaga aataaaactc cttgaaacca gctcaggcta
     2701 ctgccactca ggcagcctgt gggtccttgc ggtgtaggga acggcctgag aggagcgtgt
     2761 cctatccccg gacgcatgca gggcccccac aggagcgtgt cctatccccg gacgcatgca
     2821 gggcccccac aggagcatgt cctatccctg gacgcatgca gggcccccac aggagcgtgt
     2881 actaccccag aacgcatgca gggcccccac aggagcgtgt actaccccag gacgcatgca
     2941 gggcccccac tggagcgtgt actaccccag gacgcatgca gggcccccac aggagcgtgt
     3001 cctatccccg gaccggacgc atgcagggcc cccacaggag cgtgtactac cccaggacgc
     3061 atgcagggcc cccacaggag cgtgtactac cccaggatgc atgcagggcc cccacaggag
     3121 cgtgtactac cccaggacgc atgcagggcc cccatgcagg cagcctgcag accacactct
     3181 gcctggcctt gagccgtgac ctccaggaag ggaccccact ggaattttat ttctctcagg
     3241 tgcgtgccac atcaataaca acagttttta tgtttgcgaa tggcttttta aaatcatatt
     3301 tacctgtgaa tcaaaacaaa ttcaagaatg cagtatccgc gagcctgctt gctgatattg
     3361 cagtttttgt ttacaagaat aattagcaat actgagtgaa ggatgttggc caaaagctgc
     3421 tttccatggc acactgccct ctgccactga caggaaagtg gatgccatag tttgaattca
     3481 tgcctcaagt cggtgggcct gcctacgtgc tgcccgaggg caggggccgt gcagggccag
     3541 tcatggctgt cccctgcaag tggacgtggg ctccagggac tggagtgtaa tgctcggtgg
     3601 gagccgtcag cctgtgaact gccaggcagc tgcagttagc acagaggatg gcttccccat
     3661 tgccttctgg ggagggacac agaggacggc ttccccatcg ccttctggcc gctgcagtca
     3721 gcacagagag cggcttcccc attgccttct ggggagggac acagaggaca gcttccccat
     3781 cgccttctgg ctgctgcagt cagcacagag agcggcttcc ccatcgcctt ctggggaggg
     3841 gctccgtgta gcaacccagg tgttgtccgt gtctgttgac caatctctat tcagcatcgt
     3901 gtgggtccct aagcacaata aaagacatcc acaatggaaa aa
//
LOCUS       NM_001044264             677 bp    mRNA    linear   PRI 19-SEP-2021
DEFINITION  Homo sapiens microseminoprotein, prostate associated (MSMP), mRNA.
ACCESSION   NM_001044264
VERSION     NM_001044264.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 677)
  AUTHORS   She S, Wu X, Zheng D, Pei X, Ma J, Sun Y, Zhou J, Nong L, Guo C, Lv
            P, Song Q, Zheng C, Liang W, Huang S, Li Q, Liu Z, Song Z, Li Y,
            Zhang Y, Kong W, You H, Xi J and Wang Y.
  TITLE     PSMP/MSMP promotes hepatic fibrosis through CCR2 and represents a
            novel therapeutic target
  JOURNAL   J Hepatol 72 (3), 506-518 (2020)
   PUBMED   31813573
  REMARK    GeneRIF: PSMP/MSMP promotes hepatic fibrosis through CCR2 and
            represents a novel therapeutic target.
REFERENCE   2  (bases 1 to 677)
  AUTHORS   Mitamura T, Pradeep S, McGuire M, Wu SY, Ma S, Hatakeyama H, Lyons
            YA, Hisamatsu T, Noh K, Villar-Prados A, Chen X, Ivan C,
            Rodriguez-Aguayo C, Hu W, Lopez-Berestein G, Coleman RL and Sood AK.
  TITLE     Induction of anti-VEGF therapy resistance by upregulated expression
            of microseminoprotein (MSMP)
  JOURNAL   Oncogene 37 (6), 722-731 (2018)
   PUBMED   29059175
  REMARK    GeneRIF: High MSMP expression is associated with drug-resistant
            prostate cancer.
REFERENCE   3  (bases 1 to 677)
  AUTHORS   Pei X, Sun Q, Zhang Y, Wang P, Peng X, Guo C, Xu E, Zheng Y, Mo X,
            Ma J, Chen D, Zhang Y, Zhang Y, Song Q, Guo S, Shi T, Zhang Z, Ma D
            and Wang Y.
  TITLE     PC3-secreted microprotein is a novel chemoattractant protein and
            functions as a high-affinity ligand for CC chemokine receptor 2
  JOURNAL   J Immunol 192 (4), 1878-1886 (2014)
   PUBMED   24442440
  REMARK    GeneRIF: these data collectively suggest that PSMP is a
            chemoattractant protein acting as a novel CCR2 ligand that may
            influence inflammation and cancer development.
REFERENCE   4  (bases 1 to 677)
  AUTHORS   Valtonen-Andre C, Bjartell A, Hellsten R, Lilja H, Harkonen P and
            Lundwall A.
  TITLE     A highly conserved protein secreted by the prostate cancer cell line
            PC-3 is expressed in benign and malignant prostate tissue
  JOURNAL   Biol Chem 388 (3), 289-295 (2007)
   PUBMED   17338636
REFERENCE   5  (bases 1 to 677)
  AUTHORS   Gonzalez P, Epstein DL and Borras T.
  TITLE     Characterization of gene expression in human trabecular meshwork
            using single-pass sequencing of 1060 clones
  JOURNAL   Invest Ophthalmol Vis Sci 41 (12), 3678-3693 (2000)
   PUBMED   11053263
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BE439730.1, BC105274.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA2142853 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000436428.3/ ENSP00000419194.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC071800.1, DQ012170.1 and
            BE439525.1.
            On Nov 23, 2018 this sequence version replaced NM_001044264.2.
            Summary: This gene encodes a member of the beta-microseminoprotein
            family. Members of this protein family contain ten conserved
            cysteine residues that form intra-molecular disulfide bonds. The
            encoded protein may play a role in prostate cancer tumorigenesis.
            [provided by RefSeq, Jan 2011].
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..677
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..677
                     /gene="MSMP"
                     /gene_synonym="PSMP"
                     /note="microseminoprotein, prostate associated"
                     /db_xref="GeneID:692094"
                     /db_xref="HGNC:HGNC:29663"
                     /db_xref="MIM:612191"
     misc_feature    127..129
                     /gene="MSMP"
                     /gene_synonym="PSMP"
                     /note="upstream in-frame stop codon"
     CDS             148..567
                     /gene="MSMP"
                     /gene_synonym="PSMP"
                     /note="PC3 prostate cancer cell-secreted microprotein;
                     prostate-associated microseminoprotein"
                     /codon_start=1
                     /product="prostate-associated microseminoprotein precursor"
                     /protein_id="NP_001037729.1"
                     /db_xref="CCDS:CCDS43797.1"
                     /db_xref="GeneID:692094"
                     /db_xref="HGNC:HGNC:29663"
                     /db_xref="MIM:612191"
                     /translation="MALRMLWAGQAKGILGGWGIICLVMSLLLQHPGVYSKCYFQAQAP
                     CHYEGKYFTLGESWLRKDCFHCTCLHPVGVGCCDTSQHPIDFPAGCEVRQEAGTCQFSL
                     VQKSDPRLPCKGGGPDPEWGSANTPVPGAPAPHSS"
     sig_peptide     148..255
                     /gene="MSMP"
                     /gene_synonym="PSMP"
                     /inference="protein motif:SignalP:3.0"
                     /note="The cleavage site of the signal peptide has not been
                     experimentally determined."
     regulatory      654..659
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSMP"
                     /gene_synonym="PSMP"
                     /note="hexamer: AATAAA"
     polyA_site      677
                     /gene="MSMP"
                     /gene_synonym="PSMP"
                     /note="major polyA site"
ORIGIN
        1 gagggcaggg agatagtgtg agacaggagc ccaggggaga aagacagaaa ctaagactca
       61 aggagcaacg caaagcaaag tcaaggagtc aagaccagag tagctgagca gaggccaaga
      121 agggtctgag agggctgtgc agcagcaatg gccctaagga tgctctgggc tggacaggcc
      181 aaggggatcc taggaggctg ggggatcatc tgcttggtga tgtctctact cctccagcac
      241 ccaggagtct acagcaagtg ctacttccaa gctcaagccc cctgtcacta tgaggggaaa
      301 tattttaccc tgggtgagtc ttggctccgc aaggactgtt tccattgcac ctgtctgcat
      361 cctgttggcg tgggctgctg tgacacgtcc cagcatccca tcgacttccc ggctgggtgt
      421 gaggtacgtc aggaggcagg aacctgccag ttctccttgg tgcaaaaatc tgaccctcgg
      481 ctgccctgca aagggggagg gcctgaccca gaatggggct cagccaacac ccctgttcct
      541 ggggctcctg ctccccactc cagctaaact caactgatca tccatctgct gactgctcac
      601 tgctgctgcc acttccaggg aaaccactag cagctgccaa tgtattctga acaaataaat
      661 taatgctata gctgaaa
//
LOCUS       NM_001044305            3214 bp    mRNA    linear   PRI 26-MAR-2023
DEFINITION  Homo sapiens small ArfGAP 1 (SMAP1), transcript variant 1, mRNA.
ACCESSION   NM_001044305
VERSION     NM_001044305.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3214)
  AUTHORS   Harms J, Luttgenau SM, Emming C, Guske J, Weber K, Wagner T, Schowe
            L, Nedvetsky P and Krahn MP.
  TITLE     Pals1 functions in redundancy with SMAP1 to inhibit Arf6 in order to
            prevent Rac1-dependent colorectal cancer cell migration and invasion
  JOURNAL   Cancer Gene Ther 30 (3), 497-506 (2023)
   PUBMED   36494580
  REMARK    GeneRIF: Pals1 functions in redundancy with SMAP1 to inhibit Arf6 in
            order to prevent Rac1-dependent colorectal cancer cell migration and
            invasion.
REFERENCE   2  (bases 1 to 3214)
  AUTHORS   Ruhle F, Witten A, Barysenka A, Huge A, Arning A, Heller C, Krumpel
            A, Mesters R, Franke A, Lieb W, Riemenschneider M, Hiersche M,
            Limperger V, Nowak-Gottl U and Stoll M.
  TITLE     Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to
            pediatric venous thromboembolism
  JOURNAL   Blood 129 (6), 783-790 (2017)
   PUBMED   28011674
  REMARK    GeneRIF: The study identified a region on chromosome 6 comprising
            the genes SMAP1, B3GAT2, and RIMS1 as novel susceptibility locus for
            pediatric venous thromboembolism.
REFERENCE   3  (bases 1 to 3214)
  AUTHORS   Kobayashi N, Kon S, Henmi Y, Funaki T, Satake M and Tanabe K.
  TITLE     The Arf GTPase-activating protein SMAP1 promotes transferrin
            receptor endocytosis and interacts with SMAP2
  JOURNAL   Biochem Biophys Res Commun 453 (3), 473-479 (2014)
   PUBMED   25281535
  REMARK    GeneRIF: Results also demonstrated a physical association between
            SMAP1 and SMAP2, which might serve as a basis for a functional
            interaction, and identified the intramolecular domains responsible
            for this association
REFERENCE   4  (bases 1 to 3214)
  AUTHORS   Sangar F, Schreurs AS, Umana-Diaz C, Claperon A, Desbois-Mouthon C,
            Calmel C, Mauger O, Zaanan A, Miquel C, Flejou JF and Praz F.
  TITLE     Involvement of small ArfGAP1 (SMAP1), a novel Arf6-specific
            GTPase-activating protein, in microsatellite instability oncogenesis
  JOURNAL   Oncogene 33 (21), 2758-2767 (2014)
   PUBMED   23752192
  REMARK    GeneRIF: SMAP1 loss-of-function mutations in microsatellite
            instability colorectal cancer may contribute to the emerging
            oncogenic pathway involving abnormal Arf6 regulation.
REFERENCE   5  (bases 1 to 3214)
  AUTHORS   Barragan I, Marcos I, Borrego S and Antinolo G.
  TITLE     Mutation screening of three candidate genes, ELOVL5, SMAP1 and
            GLULD1 in autosomal recessive retinitis pigmentosa
  JOURNAL   Int J Mol Med 16 (6), 1163-1167 (2005)
   PUBMED   16273301
REFERENCE   6  (bases 1 to 3214)
  AUTHORS   Tanabe K, Torii T, Natsume W, Braesch-Andersen S, Watanabe T and
            Satake M.
  TITLE     A novel GTPase-activating protein for ARF6 directly interacts with
            clathrin and regulates clathrin-dependent endocytosis
  JOURNAL   Mol Biol Cell 16 (4), 1617-1628 (2005)
   PUBMED   15659652
  REMARK    GeneRIF: SMAP1 may be an ADP-ribosylation factor 6 (Arf6)GAP that
            specifically regulates one of the multiple functions of Arf6,
            namely, clathrin-dependent endocytosis
REFERENCE   7  (bases 1 to 3214)
  AUTHORS   Barrios-Rodiles M, Brown KR, Ozdamar B, Bose R, Liu Z, Donovan RS,
            Shinjo F, Liu Y, Dembowy J, Taylor IW, Luga V, Przulj N, Robinson M,
            Suzuki H, Hayashizaki Y, Jurisica I and Wrana JL.
  TITLE     High-throughput mapping of a dynamic signaling network in mammalian
            cells
  JOURNAL   Science 307 (5715), 1621-1625 (2005)
   PUBMED   15761153
REFERENCE   8  (bases 1 to 3214)
  AUTHORS   Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L,
            Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel
            G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell
            RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow
            KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S,
            Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W,
            Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee
            CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR,
            Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME,
            Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A,
            Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM,
            Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths
            C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA,
            Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR,
            Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA,
            Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor
            S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE,
            Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L,
            McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC,
            Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker
            A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW,
            Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra
            HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL,
            Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas
            DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West
            AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer
            TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR,
            Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and
            Beck S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   9  (bases 1 to 3214)
  AUTHORS   Marcos I, Borrego S, Rodriguez de Cordoba S, Galan JJ and Antinolo
            G.
  TITLE     Cloning, characterization and chromosome mapping of the human SMAP1
            gene
  JOURNAL   Gene 292 (1-2), 167-171 (2002)
   PUBMED   12119110
REFERENCE   10  (bases 1 to 3214)
  AUTHORS   Sato Y, Hong HN, Yanai N and Obinata M.
  TITLE     Involvement of stromal membrane-associated protein (SMAP-1) in
            erythropoietic microenvironment
  JOURNAL   J Biochem 124 (1), 209-216 (1998)
   PUBMED   9644265
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.258816.1,
            SRR1660807.153174.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000370455.8/ ENSP00000359484.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB480952.1, BC036123.1 and
            AF442495.1.
            On May 17, 2019 this sequence version replaced NM_001044305.2.
            Summary: The protein encoded by this gene is similar to the mouse
            stromal membrane-associated protein-1. This similarity suggests
            that this human gene product is also a type II membrane
            glycoprotein involved in the erythropoietic stimulatory activity of
            stromal cells. Alternate splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (1) encodes the longest isoform
            (A).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3214
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q13"
     gene            1..3214
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /note="small ArfGAP 1"
                     /db_xref="GeneID:60682"
                     /db_xref="HGNC:HGNC:19651"
                     /db_xref="MIM:611372"
     misc_feature    109..111
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /note="upstream in-frame stop codon"
     CDS             142..1545
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /note="isoform A is encoded by transcript variant 1;
                     stromal membrane-associated GTPase-activating protein 1"
                     /codon_start=1
                     /product="stromal membrane-associated protein 1 isoform A"
                     /protein_id="NP_001037770.1"
                     /db_xref="CCDS:CCDS43478.1"
                     /db_xref="GeneID:60682"
                     /db_xref="HGNC:HGNC:19651"
                     /db_xref="MIM:611372"
                     /translation="MATRSCREKAQKLNEQHQLILSKLLREEDNKYCADCEAKGPRWAS
                     WNIGVFICIRCAGIHRNLGVHISRVKSVNLDQWTAEQIQCMQDMGNTKARLLYEANLPE
                     NFRRPQTDQAVEFFIRDKYEKKKYYDKNAIAITNISSSDAPLQPLVSSPSLQAAVDKNK
                     LEKEKEKKKEEKKREKEPEKPAKPLTAEKLQKKDQQLEPKKSTSPKKAAEPTVDLLGLD
                     GPAVAPVTNGNTTVPPLNDDLDIFGPMISNPLPATVMPPAQGTPSAPAAATLSTVTSGD
                     LDLFTEQTTKSEEVAKKQLSKDSILSLYGTGTIQQQSTPGVFMGPTNIPFTSQAPAAFQ
                     GFPSMGVPVPAAPGLIGNVMGQSPSMMVGMPMPNGFMGNAQTGVMPLPQNVVGPQGGMV
                     GQMGAPQSKFGLPQAQQPQWSLSQMNQQMAGMSISSATPTAGFGQPSSTTAGWSGSSSG
                     QTLSTQLWK"
     misc_feature    574..813
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYB5.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    793..807
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYB5.2);
                     Region: Interaction with clathrin heavy chains.
                     /evidence=ECO:0000250"
     misc_feature    1363..1542
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IYB5.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2359..2364
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /note="hexamer: ATTAAA"
     polyA_site      2386
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /note="major polyA site"
     regulatory      3141..3146
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /note="hexamer: AATACA"
     polyA_site      3168
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
ORIGIN
        1 ctcccgttcc agctgccgct gccgcttcct gggctgagtc cgcccgcggt cccggcggcg
       61 ccaggtgcgt tcactctgcc cggctccagc cagcgtccgc cgccgccgta gctgccccag
      121 gctccccgcc ccgctgccga gatggcgacg cgctcctgtc gggagaaggc tcagaagctg
      181 aacgagcagc accagctcat cctatccaag cttctgaggg aggaggacaa caagtactgc
      241 gccgactgcg aggccaaagg tcctcgatgg gcttcctgga atattggtgt gtttatttgc
      301 atcagatgtg ctggaattca tagaaatctt ggggttcata tatccagggt caaatcagtc
      361 aacctagacc aatggacagc agaacagata cagtgcatgc aagatatggg aaatactaaa
      421 gcaagactac tctatgaagc caatcttcca gagaactttc gaagaccaca gacagatcaa
      481 gcagtggaat ttttcatcag agataaatat gaaaagaaga aatactacga taaaaatgcc
      541 atagctatta caaatatttc ctcctctgat gctcctcttc agcctttggt atcctctcct
      601 tctctgcaag ctgctgttga caaaaataaa ttggagaaag aaaaggaaaa aaaaaaggaa
      661 gagaaaaaga gagaaaagga gccagaaaag ccggcaaaac cacttacagc tgaaaagctg
      721 cagaagaaag atcagcaact ggagcctaaa aaaagtacca gccctaaaaa agctgcggag
      781 cccactgtgg atcttttagg acttgatggc cctgctgtgg caccagtgac caacgggaac
      841 acaacggtgc cacccctgaa cgatgatctg gacatctttg gaccgatgat ttctaatccc
      901 ttacctgcaa ctgtcatgcc cccagctcag gggacaccct ctgcaccagc agctgcaacc
      961 ctgtctacag taacatctgg ggatctagat ttattcactg agcaaactac aaaatcagaa
     1021 gaagtggcaa agaaacaact ttccaaagac tccatcttat ctctgtatgg cacaggaacc
     1081 attcaacagc aaagtactcc tggtgtattt atgggaccca caaatatacc atttacctca
     1141 caagcaccag ctgcatttca gggctttcca tcgatgggcg tgcctgtgcc tgcagctcct
     1201 ggccttatag gaaatgtgat gggacagagt ccaagcatga tggtgggcat gcccatgccc
     1261 aatgggttta tgggaaatgc acaaactggt gtgatgccac ttcctcagaa cgttgttggc
     1321 ccccaaggag gaatggtggg acaaatgggt gcaccccaga gtaagtttgg cctgccgcaa
     1381 gctcagcagc cccagtggag cctctcacag atgaatcagc agatggctgg catgagtatc
     1441 agtagtgcaa cccctactgc aggttttggc cagccctcca gcacaacagc aggatggtct
     1501 ggaagctcat caggtcagac tctcagcaca caactgtgga aatgaaaact gcaatacaag
     1561 tttcatccag aactaccacc tgacattcct tgctgaaacg catctagttc ccctgtttat
     1621 tcatatgcat attttttttc tttttaccca tttgttcata ttaagaatga tctgattgac
     1681 cgtgttggtc tgtactgatt caatttgatg tggtgaaaag caggttgata aatcatttta
     1741 tgtcaagggc agctttgctc atatttccca tgatttcatg tactgcatta tttgagaagc
     1801 tgctcaactt gcaaaatcag ttttcctctc aataaaatta tagctctaat gtttgcatat
     1861 aagggaagta gttatcatgt tagtaatacc tctaatagta taaaccccac cccaaaatta
     1921 gccagtaatc ctgtaggaag gtactgtatg atcaaatgtt taatcatata aatagaatgt
     1981 aaatgtctca ctgagcactg ttttctagtg tatcaaaatg ctcttatttc atcattcact
     2041 tcactgtgct gttgttatga tgtgcttaac agggaacgtg attagtgaaa ggaagataaa
     2101 cgtggatgtt actccaaaac ttcgtttaat gaatgcttaa agaattcaaa ttttatctgc
     2161 ctctcttgta atttggatct cttcttaatg tacatagtgc taacatgaag acctttttct
     2221 gcactatatg caaacagggt aactaactaa aacaaagcca ctttcaatct tcaatccttg
     2281 aaggtatatc taggtttatg acagtaattg tgtttacatt ttatggtgcc tagtattgac
     2341 aaaatgttat ttccctacat taaacatgac tccatagacc ttttcatttg tgggttttta
     2401 tttcctatga tgtatactgc cactaacctt ccaaaaatta cttagtattg caaagtcagg
     2461 aatcatcagg aacgtttagc tgacaaaata cttgtctgtt ttaaaaacct gttcaagtct
     2521 accaacctgt tcaagtctac caattataag ggcaaattgg agaaaaagaa aaaatatata
     2581 ctcaagagtg gtatcttgca gtatcggcac tgtacaaaaa aatcttccaa tttagttgtt
     2641 gtagagaaaa catgcagaac aaatgaagac aaaacataca ttttgtacca accatccaat
     2701 tagcttatgt taactgacaa gctccattta aacagatgtc catcagatga caagaaaggc
     2761 tgctgtactg aagtaaaaca aacaatacct gaatgctctg tagcctaaac tccaaacatc
     2821 ctcttccata tggatccact ggctggacaa actgcaccag ttgctgcttc aatttatacc
     2881 tcaattttca ctgtgtccag gtggtacttt ggctcgttgg ctagattaac cttctctgtc
     2941 cgagtgtgcc acacgagaac ctgaagggga aggaaatagc ttgggtagcg cactcttcat
     3001 ggtgacactc gaggtcgggc agcacaagtg taatgaatac cttagtgcag ttatttgctt
     3061 tcggttccag ttcttcgact gttgttatct gtttgagaaa gtcagattct tgcatccctg
     3121 gctgggatcc acgacgctta aatacagctt ttggattgga caaaatgact tgaagactta
     3181 cagcaaatcc tttgtgaaaa ataaaaaaaa aaaa
//
LOCUS       NM_001044369            3035 bp    mRNA    linear   PRI 25-MAY-2023
DEFINITION  Homo sapiens divergent protein kinase domain 1C (DIPK1C), mRNA.
ACCESSION   NM_001044369
VERSION     NM_001044369.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3035)
  AUTHORS   Wu Z, Mei F, Gan Y, Liu A, Hu J, Jin Y and Yin Y.
  TITLE     FAM69C functions as a kinase for eIF2alpha and promotes stress
            granule assembly
  JOURNAL   EMBO Rep 24 (5), e55641 (2023)
   PUBMED   36929224
REFERENCE   2  (bases 1 to 3035)
  AUTHORS   Mei F, Hu J, Wu Z, Zhang G, Liu A, Li X, Zhu M, Gan Y, Liang L, Zhao
            X, Yuan Y, Meng X, Li Y, Jin Y, Jia J and Yin Y.
  TITLE     FAM69C, a kinase critical for synaptic function and memory, is
            defective in neurodegenerative dementia
  JOURNAL   Cell Rep 40 (3), 111101 (2022)
   PUBMED   35858575
REFERENCE   3  (bases 1 to 3035)
  AUTHORS   Dudkiewicz M, Lenart A and Pawlowski K.
  TITLE     A novel predicted calcium-regulated kinase family implicated in
            neurological disorders
  JOURNAL   PLoS One 8 (6), e66427 (2013)
   PUBMED   23840464
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3035)
  AUTHORS   Tennant-Eyles AJ, Moffitt H, Whitehouse CA and Roberts RG.
  TITLE     Characterisation of the FAM69 family of cysteine-rich endoplasmic
            reticulum proteins
  JOURNAL   Biochem Biophys Res Commun 406 (3), 471-477 (2011)
   PUBMED   21334309
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: MG029087.1, SRR1660803.79682.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2145893 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000343998.8/ ENSP00000344331.6
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009704.8.
            On Jun 17, 2020 this sequence version replaced NM_001044369.2.
            Summary: This gene encodes a member of the FAM69 family of
            cysteine-rich type II transmembrane proteins. These proteins
            localize to the endoplasmic reticulum but their specific functions
            are unknown. [provided by RefSeq, Nov 2011].
FEATURES             Location/Qualifiers
     source          1..3035
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q22.3"
     gene            1..3035
                     /gene="DIPK1C"
                     /gene_synonym="C18orf51; FAM69C; FNCAD"
                     /note="divergent protein kinase domain 1C"
                     /db_xref="GeneID:125704"
                     /db_xref="HGNC:HGNC:31729"
                     /db_xref="MIM:614544"
     CDS             50..1309
                     /gene="DIPK1C"
                     /gene_synonym="C18orf51; FAM69C; FNCAD"
                     /note="protein FAM69C; family with sequence similarity 69
                     member C; familial non-conventional Alzheimer's dementia"
                     /codon_start=1
                     /product="divergent protein kinase domain 1C"
                     /protein_id="NP_001037834.2"
                     /db_xref="CCDS:CCDS42445.2"
                     /db_xref="GeneID:125704"
                     /db_xref="HGNC:HGNC:31729"
                     /db_xref="MIM:614544"
                     /translation="MARAAGARGPAGWCRRRGRCGRGTLLAFAAWTAGWVLAAALLLRA
                     HPGVLSERCTDEKSRRILAALCQDYQGGTLAGDLCEDLCVAGELLFQRCLHYNRGKKVL
                     QADWRGRPVVLKSKEEAFSSFPPLSLLEEEAGEGGQDMPEAELLLMVAGEVKSALGLEL
                     SNSSLGPWWPGRRGPRWRGQLASLWALLQQEEYVYFSLLQDLSPHVLPVLGSCGHFYAV
                     EFLAAGSPHHRALFPLDRAPGAPGGGQAKAISDIALSFLDMVNHFDSDFSHRLHLCDIK
                     PENFAIRSDFTVVAIDVDMAFFEPKMREILEQNCTGDEDCNFFDCFSRCDLRVNKCGAQ
                     RVNNNLQVICDKIFRHWFSAPLKSSAVSFQLQLQLQEAVQECADPGVPSGNTRRAASSV
                     FWKLRQLLQATLRELQEAEK"
     misc_feature    95..100
                     /gene="DIPK1C"
                     /gene_synonym="C18orf51; FAM69C; FNCAD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0P6D2.3);
                     Region: May mediate ER retention. /evidence=ECO:0000250"
     misc_feature    116..178
                     /gene="DIPK1C"
                     /gene_synonym="C18orf51; FAM69C; FNCAD"
                     /note="propagated from UniProtKB/Swiss-Prot (Q0P6D2.3);
                     transmembrane region"
     regulatory      2061..2066
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DIPK1C"
                     /gene_synonym="C18orf51; FAM69C; FNCAD"
                     /note="hexamer: AATAAA"
     regulatory      2072..2077
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DIPK1C"
                     /gene_synonym="C18orf51; FAM69C; FNCAD"
                     /note="hexamer: AATAAG"
     polyA_site      2082
                     /gene="DIPK1C"
                     /gene_synonym="C18orf51; FAM69C; FNCAD"
                     /note="major polyA site"
     polyA_site      2098
                     /gene="DIPK1C"
                     /gene_synonym="C18orf51; FAM69C; FNCAD"
     regulatory      3012..3017
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DIPK1C"
                     /gene_synonym="C18orf51; FAM69C; FNCAD"
                     /note="hexamer: ATTAAA"
     polyA_site      3035
                     /gene="DIPK1C"
                     /gene_synonym="C18orf51; FAM69C; FNCAD"
ORIGIN
        1 aactcggggc gcgggcggcg gtggggcccg ggcgcgggca gggctggcca tggcgcgggc
       61 ggcgggcgcg cggggccctg ccgggtggtg caggaggcgc gggcgctgcg ggcggggcac
      121 gctcctcgcc ttcgccgcgt ggaccgcggg ctgggtgctg gcggccgcgc tgctgctccg
      181 cgcgcacccg ggtgtcctct ccgagcgctg caccgacgag aagagccggc gcatcctggc
      241 cgcgctgtgc caggactacc agggcggcac gctggccggg gacctctgcg aggacctgtg
      301 tgtggcggga gagctgctgt tccaacgctg cctgcactac aacagaggca agaaggtgct
      361 gcaggccgac tggcgcggcc ggcccgtggt cctcaagtcc aaggaggagg ccttctccag
      421 cttcccgccc ctcagcctgt tggaagagga ggcaggggag ggtggccagg acatgcccga
      481 ggccgaactc ctcctgatgg tggctgggga ggtcaagagc gctctgggcc tggagttgtc
      541 caacagcagc ctggggccgt ggtggccggg caggcggggc ccacgctggc ggggacagct
      601 ggccagcctg tgggccctgc tgcagcagga ggagtacgtc tacttcagcc tgctgcagga
      661 cctgagccca cacgtgctgc ccgtgctggg ttcctgcggc cacttctacg cggtggagtt
      721 cctggccgcg ggcagccccc accacagggc actcttcccc ctggaccggg ccccaggtgc
      781 ccctgggggt ggccaggcca aggccatcag tgacatcgca ctcagcttct tggacatggt
      841 gaaccatttt gacagtgact tttcccaccg cctccacctc tgcgacatca agccggaaaa
      901 ctttgccatc cggagcgact tcacagtggt ggctattgat gtggacatgg ccttttttga
      961 acctaaaatg agggaaatcc ttgagcaaaa ctgcacagga gatgaagact gcaatttctt
     1021 tgactgtttt tcaagatgtg atttacgagt caacaaatgc ggagcgcagc gcgtaaacaa
     1081 caacctgcag gtcatctgtg acaaaatatt tcgccattgg ttttccgcgc ctctcaagag
     1141 ctctgcggtc tctttccagc ttcagctgca gttacaggag gcggtgcagg aatgtgcaga
     1201 ccctggggtc cccagtggga acacccggag agcagcctcc agcgtgttct ggaagcttcg
     1261 ccaactcctc caagccacac tgagggagct gcaggaggca gagaagtagc cactctctgg
     1321 ccttaaacat gctcacacag gaaaagtgac cttggctgga tttcttctgc cattgtttta
     1381 aagatgagcc atttcccctg tgctctctgg ggtgccgttc tggtctccac attgtggagt
     1441 ggcaagtgct gctgccagag acagtgctcc ctcgctctcg tcccaccctg gcctctgacc
     1501 tgtcgccttg tgtaaaatga gatgagggag gaggtacaga cctcccttca ggagggctct
     1561 cggtcagaag acaccaacct gtgtgcactt attctctgca gagagcactt gtacctggtt
     1621 atcccagcac gagttccagc tgttctttcc tgtaaatcgt taccacgtta aaaagtgtgc
     1681 gtgtgtgcat acaaatgatg tgtatgcctg tgtctgggtg caaatgagca tgtgagcatg
     1741 tgtgagtgtg cccatgagtg tctgcatgtg tgtgagtgtg cacaggtgag tgtgcacagg
     1801 tgagtgtggt gtgctcatga ggagtatgag tatgcctgag tgtgaatatg tatgagtgtg
     1861 aatgagtgtg tgcacatgag tgcacgggtg tcagcatgtg tatataagtg tgggcatgtg
     1921 tatgtgattg tgtgagtgtg ggcaggtgag tgtgttgggg atgtgggtta gggtggggag
     1981 tggtgctttc tctagtgtgt cctccggaac atcttgccta cctagcaaag aagtgtgacc
     2041 attctttcgg aattaaatac aataaaaaga aaataagctg catctttagg gaagggaatt
     2101 tgcattggag agcgtgtgta acggcagctt atagtatttt tcattttgtg gaatccacca
     2161 aggttatgga tgggttttag ggcgcctcgt attgcaatac accttcccct gggcagggac
     2221 ttgtaggttg gcttgatgca gcattgtctt caccttcaga gaaaatttaa agtagagcaa
     2281 atgctgaggt ctgcattgac tccaggcagg accagagacc agcacctttc ttttgatgga
     2341 ttgaagacca agtgataggc atcaaatcct atggtggcat gatacgctca tcagtggtga
     2401 tcccaaggag gcttttccag caaaatacag gcagggggac aggccaggtg aagccagtga
     2461 gctttcactt aaagggacct ggtttctacc cataactgtg acccacgagt gctcaacaaa
     2521 ccaacgggtc accccttttc agaaatccca tgaaaaggga aatcgagaaa gatgagagaa
     2581 tcaggaagtc atgttggcag tttacacatt aaagaagaca aattaatcgg acgttgtgaa
     2641 agtcacaaac tgacacattc caaatggtct cttatcttgg cctgcagccc ctttctaaac
     2701 cagagaaacg ggaatgcctt cttccagact ttggggtcac atttactgac tctgcccttc
     2761 agggcacgct gagaaatggt gtgtgaggga ctagcatgat cagaggcccc cagctctaaa
     2821 ttctgccttc cccaaagacc tgttggaagg cccactgcca gctgttattc ttacccatca
     2881 ccactgggga tcttccaaat gacacagagt tccatagagg gcctcctcat catggacatg
     2941 aagactcgct ttgcaattgt attctagcaa gaaggaaaaa acccatgtca gtcaccctgt
     3001 ggcacgagca aattaaaacc aaagttcaac ggcca
//
LOCUS       NM_001044370            3436 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens metallophosphoesterase domain containing 1 (MPPED1),
            transcript variant 1, mRNA.
ACCESSION   NM_001044370
VERSION     NM_001044370.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3436)
  AUTHORS   Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
            Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
            Dunham I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   2  (bases 1 to 3436)
  AUTHORS   Schwartz F and Ota T.
  TITLE     The 239AB gene on chromosome 22: a novel member of an ancient gene
            family
  JOURNAL   Gene 194 (1), 57-62 (1997)
   PUBMED   9266672
REFERENCE   3  (bases 1 to 3436)
  AUTHORS   Schwartz F, Eisenman R, Knoll J, Gessler M and Bruns G.
  TITLE     cDNA sequence, genomic organization, and evolutionary conservation
            of a novel gene from the WAGR region
  JOURNAL   Genomics 29 (2), 526-532 (1995)
   PUBMED   8666403
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK290541.1, SRR1803613.216925.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2154665,
            SAMN03465404 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000443721.2/ ENSP00000400686.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA773758.1, BC028035.1, U84894.1 and BX546033.2.
            On Nov 22, 2018 this sequence version replaced NM_001044370.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3436
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..3436
                     /gene="MPPED1"
                     /gene_synonym="239AB; C22orf1; FAM1A"
                     /note="metallophosphoesterase domain containing 1"
                     /db_xref="GeneID:758"
                     /db_xref="HGNC:HGNC:1306"
                     /db_xref="MIM:602112"
     CDS             224..1204
                     /gene="MPPED1"
                     /gene_synonym="239AB; C22orf1; FAM1A"
                     /note="adult brain protein 239"
                     /codon_start=1
                     /product="metallophosphoesterase domain-containing protein
                     1"
                     /protein_id="NP_001037835.1"
                     /db_xref="CCDS:CCDS46723.1"
                     /db_xref="GeneID:758"
                     /db_xref="HGNC:HGNC:1306"
                     /db_xref="MIM:602112"
                     /translation="MWRSRWDASVLKAEALALLPCGLGMAFSQSHVMAARRHQHSRLII
                     EVDEYSSNPTQAFTFYNINQGRFQPPHVQMVDPVPHDAPKPPGYTRFVCVSDTHSRTDP
                     IQMPYGDVLIHAGDFTELGLPSEVKKFNEWLGSLPYEYKIVIAGNHELTFDQEFMADLI
                     KQDFYYFPSVSKLKPENYENVQSLLTNCIYLQDSEVTVRGFRIYGSPWQPWFYGWGFNL
                     PRGQALLEKWNLIPEGVDILITHGPPLGFLDWVPKKMQRVGCVELLNTVQRRVQPRLHV
                     FGHIHEGYGVMADGTTTYVNASVCTVNYQPVNPPIVIDLPTPRNS"
     regulatory      2484..2489
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPPED1"
                     /gene_synonym="239AB; C22orf1; FAM1A"
                     /note="hexamer: ATTAAA"
     polyA_site      2508
                     /gene="MPPED1"
                     /gene_synonym="239AB; C22orf1; FAM1A"
                     /note="major polyA site"
     regulatory      3306..3311
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPPED1"
                     /gene_synonym="239AB; C22orf1; FAM1A"
                     /note="hexamer: ATTAAA"
     polyA_site      3328
                     /gene="MPPED1"
                     /gene_synonym="239AB; C22orf1; FAM1A"
     regulatory      3413..3418
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPPED1"
                     /gene_synonym="239AB; C22orf1; FAM1A"
                     /note="hexamer: AATAAA"
     polyA_site      3436
                     /gene="MPPED1"
                     /gene_synonym="239AB; C22orf1; FAM1A"
                     /note="major polyA site"
ORIGIN
        1 acttgcagcc tcggacgcgc ggcgaggcgg ccgccgccgg aggagccccc gcccctgcgc
       61 gcctccctcc cgggagcccc tgcctccctc ggtgcgcgct gctgctcgca gccgccgcgg
      121 ccgccgaaga ggagcccggg gccagtctgt ttccaggtct ggcggggggc cgggctgcgg
      181 tggcggcagc ggtgggagat gccggggcgg ccggcggagg tccatgtggc gctctaggtg
      241 ggatgccagc gtcctgaagg cggaggccct ggccctcctc ccctgcggcc tgggcatggc
      301 attctcccag tcccacgtga tggccgctcg gcggcaccag cacagccggc tcatcatcga
      361 ggtggacgag tacagctcca accccaccca ggccttcacc ttctacaaca tcaaccaggg
      421 ccgcttccag ccaccgcatg tgcagatggt ggacccggtg cctcacgatg cccccaaacc
      481 tccaggctac acccgcttcg tctgcgtctc tgatacccac tcgaggacgg accccatcca
      541 gatgccgtac ggcgacgtgc tgatccacgc tggggacttc actgagctgg ggctcccgag
      601 cgaggtgaag aagttcaacg agtggctggg cagcctgccc tacgagtaca agatcgtgat
      661 cgcaggcaac cacgagctga cctttgacca ggagttcatg gccgacctca tcaagcagga
      721 cttttactac ttcccatctg tgtcgaagct gaagccggag aactatgaga atgtgcagtc
      781 gctgctgacc aactgcatct accttcagga ctcggaggtc accgtgcggg gcttccggat
      841 ctatggctcc ccatggcagc cctggttcta cggctggggc ttcaacctcc cgcgaggcca
      901 agccctgctg gagaaatgga acctcattcc cgaaggcgta gacatcctga taacccatgg
      961 accaccactg ggcttcctgg actgggtccc caagaagatg cagcgggtgg gctgtgtgga
     1021 gctgctcaac acggtgcaga ggcgcgtcca gccgcggtta catgtctttg gccacatcca
     1081 cgaagggtat ggtgtcatgg cagatgggac gaccacctat gtgaatgcgt ccgtatgcac
     1141 tgtgaactac cagcccgtga acccgcccat agtcatcgac ctccccacac cccggaactc
     1201 ctgactgctc cccactgccc ctgccctgcc cgcccgtgtc agctccacag gcctggcccg
     1261 gccactgttc cttccatgct gagttgcctg gacgacccat ctggctgcgg ggactggcct
     1321 agcaggcagg tcagggcctt ggaacgactc tttagccttc tgtcacctgg agttgggacc
     1381 ctgcgcatcc ccatcagggg ttctgtgctc atttactttt tctgcgtgta catcctgcgt
     1441 gtacctcgtt aaaggaccta ctaagctcat ggccctgtca tgtttgggaa atgactaaat
     1501 cttcattctt ctcccttgga cgccctcctg gtttgggaag ctgctgctct tgaatgggtt
     1561 ttggaagtta cacaaaatct ccctctaacc acgggtctgt gtggcggcat gcccctgggt
     1621 tggggtgggt gggaggattc gtgagctgca cacagacagt ccctttctct cctcccaagt
     1681 gagggaggag acaggcccaa ggcggaggcc ctccgaggga gcatttaggg acatctcagg
     1741 aattcagacc gcacctggcc aggcccacag ctgtttgcct ggcattgttc cccccttttt
     1801 cttcccatag gcatttttgt ttacttgaac aatgacctga gtgtcctagg cattcactcg
     1861 gagcctggat gatgggggct ggttctacag aatgagccac tggcattcgt gcccaggacc
     1921 agtgagagcg ttcccagtca tggggggatg acccttggtc ccacggggaa cacactgctc
     1981 tgtagaatgc ggtagcctgg atggagggtc tgcaggctta ggctgcagca ggcctgccat
     2041 gggtgtgaac ccatgtccag gcacgcaccg acacacatgc acgcacgcac ccctcttaat
     2101 tgaaccaagt gggtcctgtg tttctctttt ctgccccgta gtgaggttct gttccttggt
     2161 gcggcttccc ttgcaccgtt aggattctgt ctggcatgcc tgcagccgag gaagcccagg
     2221 accagccggc cctgtgaatt ggagggtggc acagggaccg agcgggcccc aggctccagc
     2281 agccccacct tggacagctt ctttttcttc tttgaattag gactggaggg ggtggggcca
     2341 gggcggtggt gggaaccggt agggcctaga tgaggggcag gcagtcaggc agaaatgggc
     2401 aagttcaggg tcagattctg tcgttattta atattttgtt catcatggac tttttctgca
     2461 tttattttga tttttaacgt tgcattaaag tagtattatt tgtcctgatt ggtgactttt
     2521 tttgcacccc tttccgttgt acatctgaga gaagggtgtc actccctcac ccaggtccca
     2581 gccctgggaa ccagcctacc gtgagccctt ttgcagatat agactcattt catcctcaga
     2641 tggtccttca aggtaggtac tttagtccca ttttagagat gagacgattg aggccagagg
     2701 ggtgtggtaa cttgcctggg ggctcacagc acaaaaggag ccgaggcagg atctgaccct
     2761 tgttctctgg cctcactgcc ctcactttgc catgacccga agttatgtcc ctacaaagca
     2821 atgcatggtc caaggctctt tttattgtat ttttattttt aagggtcctg ttcaaaactg
     2881 gtgtgagctc tgaggagtcc tgaaccctgg gtgcagcatc ctagcatcct gggagtcctt
     2941 ttctgcccac actgagctgg gctcctcgag gggtggggct gctgtccctg gaagcctggc
     3001 agcagcactg tatcgggttg gctgaagctg agcgccgtgg ggtgcagggc tccaggaatc
     3061 ccgtttggct gaaggggttc ctgtagccag ggatgtttat gaggtctctc tgatgcccca
     3121 ggcgcaggac atgtgtgcgg gtggagaaaa gcaggccctt tcagtgccag ctccactcaa
     3181 tttctatgtg gaccaagaac gataaactta aaaaaatttt tttcctaagg tatcttcaga
     3241 atatggtgta tttttatgtg gaaaagaaaa gttatgaagg cagctgttac tttaagagaa
     3301 aattcattaa aagtcctcga ggtatgaaga tgacggcgtg cttctcaatc attttggcat
     3361 aacttgattg tggctgtaat tttttttttt ttttttgtca agcatgtcag acaataaagt
     3421 ctttgtaaaa agagaa
//
LOCUS       NM_001044385            5399 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens transmembrane protein 237 (TMEM237), transcript variant
            1, mRNA.
ACCESSION   NM_001044385
VERSION     NM_001044385.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5399)
  AUTHORS   Chevalier B, Baatallah N, Najm M, Castanier S, Jung V, Pranke I,
            Golec A, Stoven V, Marullo S, Antigny F, Guerrera IC,
            Sermet-Gaudelus I, Edelman A and Hinzpeter A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures Identify
            Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5399)
  AUTHORS   Lim SH, Snider J, Birimberg-Schwartz L, Ip W, Serralha JC, Botelho
            HM, Lopes-Pacheco M, Pinto MC, Moutaoufik MT, Zilocchi M, Laselva O,
            Esmaeili M, Kotlyar M, Lyakisheva A, Tang P, Lopez Vazquez L, Akula
            I, Aboualizadeh F, Wong V, Grozavu I, Opacak-Bernardi T, Yao Z,
            Mendoza M, Babu M, Jurisica I, Gonska T, Bear CE, Amaral MD and
            Stagljar I.
  TITLE     CFTR interactome mapping using the mammalian membrane two-hybrid
            high-throughput screening system
  JOURNAL   Mol Syst Biol 18 (2), e10629 (2022)
   PUBMED   35156780
REFERENCE   3  (bases 1 to 5399)
  AUTHORS   Skiba NP, Cady MA, Molday L, Han JYS, Lewis TR, Spencer WJ, Thompson
            WJ, Hiles S, Philp NJ, Molday RS and Arshavsky VY.
  TITLE     TMEM67, TMEM237, and Embigin in Complex With Monocarboxylate
            Transporter MCT1 Are Unique Components of the Photoreceptor Outer
            Segment Plasma Membrane
  JOURNAL   Mol Cell Proteomics 20, 100088 (2021)
   PUBMED   33933680
REFERENCE   4  (bases 1 to 5399)
  AUTHORS   Sabui S, Subramanian VS, Pham Q and Said HM.
  TITLE     Identification of transmembrane protein 237 as a novel interactor
            with the intestinal riboflavin transporter-3 (RFVT-3): role in
            functionality and cell biology
  JOURNAL   Am J Physiol Cell Physiol 316 (6), C805-C814 (2019)
   PUBMED   30892938
  REMARK    GeneRIF: TMEM237 in HuTu-80 cells led to a significant induction in
            riboflavin uptake. Transfecting TMEM237 into HuTu-80 cells led to a
            marked enhancement in hRFVT-3 protein stability (reflected by an
            increase in protein half-life).
REFERENCE   5  (bases 1 to 5399)
  AUTHORS   Zuniga FI and Craft CM.
  TITLE     Deciphering the structure and function of Als2cr4 in the mouse
            retina
  JOURNAL   Invest Ophthalmol Vis Sci 51 (9), 4407-4415 (2010)
   PUBMED   20375344
REFERENCE   6  (bases 1 to 5399)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   7  (bases 1 to 5399)
  AUTHORS   Satoh J, Obayashi S, Misawa T, Sumiyoshi K, Oosumi K and Tabunoki H.
  TITLE     Protein microarray analysis identifies human cellular prion protein
            interactors
  JOURNAL   Neuropathol Appl Neurobiol 35 (1), 16-35 (2009)
   PUBMED   18482256
REFERENCE   8  (bases 1 to 5399)
  AUTHORS   Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS,
            Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA,
            Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr,
            Scherer SW, Rouleau GA, Hayden MR and Ikeda JE.
  TITLE     A gene encoding a putative GTPase regulator is mutated in familial
            amyotrophic lateral sclerosis 2
  JOURNAL   Nat Genet 29 (2), 166-173 (2001)
   PUBMED   11586298
REFERENCE   9  (bases 1 to 5399)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301743
REFERENCE   10  (bases 1 to 5399)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301500
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.11420.1,
            SRR1803615.79417.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467146
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000409883.7/ ENSP00000386264.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP226834.1, AB053301.1 and
            AC007282.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001044385.2.
            Summary: The protein encoded by this gene is a tetraspanin protein
            that is thought to be involved in WNT signaling. Defects in this
            gene are a cause of Joubert syndrome-14. Two transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jan 2012].
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5399
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     gene            1..5399
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="transmembrane protein 237"
                     /db_xref="GeneID:65062"
                     /db_xref="HGNC:HGNC:14432"
                     /db_xref="MIM:614423"
     CDS             104..1330
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="isoform a is encoded by transcript variant 1;
                     amyotrophic lateral sclerosis 2 (juvenile) chromosome
                     region, candidate 4; amyotrophic lateral sclerosis 2
                     chromosomal region candidate gene 4 protein"
                     /codon_start=1
                     /product="transmembrane protein 237 isoform a"
                     /protein_id="NP_001037850.1"
                     /db_xref="CCDS:CCDS46489.1"
                     /db_xref="GeneID:65062"
                     /db_xref="HGNC:HGNC:14432"
                     /db_xref="MIM:614423"
                     /translation="MRTDSGARLEEGHLRPPRALPPVPSQDDIPLSRPKKKKPRTKNTP
                     ASASLEGLAQTAGRRPSEGNEPSTKELKEHPEAPVQRRQKKTRLPLELETSSTQKKSSS
                     SSLLRNENGIDAEPAEEAVIQKPRRKTKKTQPAELQYANELGVEDEDIITDEQTTVEQQ
                     SVFTAPTGISQPVGKVFVEKSRRFQAADRSELIKTTENIDVSMDVKPSWTTRDVALTVH
                     RAFRMIGLFSHGFLAGCAVWNIVVIYVLAGDQLSNLSNLLQQYKTLAYPFQSLLYLLLA
                     LSTISAFDRIDFAKISVAIRNFLALDPTALASFLYFTALILSLSQQMTSDRIHLYTPSS
                     VNGSLWEAGIEEQILQPWIVVNLVVALLVGLSWLFLSYRPGMDLSEELMFSSEVEEYPD
                     KEKEIKASS"
     misc_feature    104..514
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q45.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    176..178
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96Q45.2); phosphorylation site"
     misc_feature    248..250
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96Q45.2); phosphorylation site"
     misc_feature    782..844
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q45.2);
                     transmembrane region"
     misc_feature    905..967
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q45.2);
                     transmembrane region"
     misc_feature    1010..1072
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q45.2);
                     transmembrane region"
     misc_feature    1175..1237
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96Q45.2);
                     transmembrane region"
     regulatory      1751..1756
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="hexamer: AATAAA"
     polyA_site      1785
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="major polyA site"
     regulatory      1858..1863
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="hexamer: AATAAA"
     polyA_site      1890
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
     regulatory      5377..5382
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="hexamer: AATAAA"
     polyA_site      5399
                     /gene="TMEM237"
                     /gene_synonym="ALS2CR4; JBTS14"
                     /note="major polyA site"
ORIGIN
        1 acgaagcccc ggcgtcccac aggtcccgga ggccgctgcg tcgcggggag ctgggctcgg
       61 gccgccggcg gttgcgccgg ggcagccccg cggggagagc accatgagga ctgactcggg
      121 ggctcggctg gaggagggcc acctgcgtcc tccacgagct cttccacctg tgccaagtca
      181 agatgatatt ccacttagtc gtcctaagaa aaagaagccc agaacaaaaa acacaccagc
      241 aagtgcttct ttggaaggcc ttgctcagac tgctggtcga aggccctctg agggcaatga
      301 gccatcaact aaagaactca aagagcaccc agaggctcct gttcaaagaa gacagaaaaa
      361 gacaaggcta cctcttgaat tggagacttc ctccacccaa aagaagtcat ctagttcatc
      421 tttattacga aatgaaaatg gtattgatgc ggagccagct gaggaggcag ttattcaaaa
      481 acctcggagg aagacaaaga aaacccagcc agcagaatta cagtatgcca atgagctagg
      541 agtagaagat gaagacataa tcactgatga gcaaactact gtggaacagc agtctgtatt
      601 cactgcaccc actggcatta gccagcctgt aggcaaagta tttgtggaaa aaagccggag
      661 attccaggct gctgatcgtt cagagttgat aaagaccaca gaaaacatag atgtgtcaat
      721 ggacgtgaag ccttcctgga ccaccagaga tgtggcactt acagtgcacc gggctttcag
      781 gatgattggt ctcttttctc atggattctt ggctggctgt gctgtgtgga atattgttgt
      841 gatatatgtt ctagcaggag atcagctatc caacctctca aaccttctgc aacaatacaa
      901 gaccctagcg tatccattcc agagtcttct gtacttgctt ttggctctga gtacaatttc
      961 agcttttgac aggattgact ttgctaaaat atcagtagca atccgaaatt ttttggccct
     1021 ggatcctaca gctttagcat ctttcttgta ctttactgct cttatactat ctctgagtca
     1081 gcaaatgaca agtgacagaa tccaccttta cacaccttct tctgttaatg gtagcctctg
     1141 ggaagcagga attgaggaac agattctcca gccatggatt gtggtgaatc tcgtggtggc
     1201 tcttctggtt ggattatctt ggctattttt gtcttatagg ccaggcatgg atcttagtga
     1261 agagttaatg ttctcctcag aggtggaaga atatcctgat aaagagaaag aaatcaaagc
     1321 ctcttcataa taccagctca cctttggagg aataatgacc cagtatttgt cccatttttg
     1381 tttttaaatg tatttttata agatgtatac atgtgtattt gtaatagatt ttttgattat
     1441 ataatactga aacatctctc aatattatga aaaatgttaa aattgtgttt gctgtttatg
     1501 tctaaacatt aatttgtcta gcattatcat cttaatgaca aagggaataa tgaactagaa
     1561 accagcaagt gaaagtgttt atttcctatt ttctcaaaac agttgtattt ataactatta
     1621 ccttaaaaag cactggttta gaaaaagcca taacttaaat agtgttataa aatatatatc
     1681 aggtttaaac ataaatttag cgaatatggt agaagggaaa aaagccttca tttttgacct
     1741 ccccttactg aataaattga aatatgaagt ttgtcttttc tgaaactggc ttagtgattg
     1801 agtatcatgt aataattata atataattta gcttgaaaga tgctctacat tatgaccaat
     1861 aaaaagggaa tgtatgtttt gtttgaaaaa ttatataacc taaatttttt acctagaagt
     1921 aactaaaaag ttgcttctca ttataatctg tactagtggt tctcatatct ggttgtacat
     1981 caggatcata gagggagatt ttaaaaatct atgtagcaaa agaggctgag cagggcaagg
     2041 ctcaggggaa taaaggagag acctgtgagc ttgtgggctc ccagttgaca tctgcagtac
     2101 cctttcctct gtcccttttt tctgagtgac aagaaatagg agtagaaatt caccatctct
     2161 gttctccagc tctttgtcag agaggtttct ggttttccag gaaatccccc tcttgagatg
     2221 ggtcctgcac tgggaaagat ctcttcagaa ctatatccaa tggtacctca gctgttgtat
     2281 atgagaccct aaagctcaag ttgaggagaa gactagctat gggaaaaaat gtttcaaagg
     2341 ctgttgagca catcaataaa actattgagc ctgccctgat tagcaagcac ctgaatgtta
     2401 tagaacagaa gaggattgac aaattgatga tagagacagt tgaccctgac aataggtcta
     2461 aatttggagt gaacattata ctgggaatct cttttgctgt ttgtaaggct ggagctgccg
     2521 aaaagggatt ctccctgctg tcacagaatt gtgaatttgc tggcaattct gaaggcatcc
     2581 tgctagttcc agctttcact gtgaccagca atggttctca atctggcaat aagctggcag
     2641 tataggagtt cataatcttc cccgtcagca aacttcaggg aagccatgct cgttagagcc
     2701 aaggcttagc acacttgagc cgtgtcatca aagagaaatg tgagaaagct gctgccaatg
     2761 tgggggattg tggtaggctg cataatgtct cctaaagatg tccatgtcct aatccctgga
     2821 acttgtgaat atactacttt acttggccaa agggatttgc agatatgatt aaggttatga
     2881 accttaaaac ggggacatta tcctgtatta tccagaaggg tccagtgtaa tcttatgagt
     2941 ccttaaaagc agagaagaaa gccttttatg tctgtggtca gagaggtcag aagttatgat
     3001 attgctggct ttgaagatgg aagagggggc catgagccaa ggagagtgat gaccttgcag
     3061 ctgagtacgg cccttggcca acaatgagca aggaaatgga tttcagtcac ataaccacaa
     3121 ggaactgagt tctatgagta tcccaaatga gcaaggaaac aaatcctccc ctagagccaa
     3181 gaaaggaagg cagctctgtg gataccttgg ttttggcctg gtgctgccca tgtcatactt
     3241 ttgacataca gaactgtaag atagcaagtg tatgttgact aagctgctaa attggtggtg
     3301 attgcttatg gcagcaatag aaagctatat atcctagaga ataaagaagg ctagagctgc
     3361 tgtggaatgc acttgggaaa gctggctaca ttgataatat gtaactgcca tgggcatagt
     3421 tgcctttgta ttcttccagg tctgggaagt acaacttaga cttcagatct cgtaatgacc
     3481 caggaggcat ataaacctga gcagctagtg gccctgtaca agtccttcat cagggaaaaa
     3541 cattgagtat tccctgatta aggacttgta cagaggactc tgttttccct ggtgtttctg
     3601 gtgtgtctca aaaattgttt gactgtgatg acagggaagt ttggaagaag ttcactgcta
     3661 atgcatgtct ccaggaagca gggaatgatc tcacagtgac acttgaggca cattgctgag
     3721 gccgtcgatg agaattcatg taactttctc cagcttacag tggactagat tgacatgcaa
     3781 gctgatccag tccaattggt agggcatcat ggtttctcat tactcactga cttaaaatac
     3841 ttttattgcc atcctggtga agcactgcac tgggtagata acacaggggc accttgctga
     3901 tcagagccct tggccaggta caaagagctc agtttctaaa actctgtcat ttcaataatg
     3961 ttataaattg aatcatacag tatgtaattt tatgggattc gctttttttc tgttgatctc
     4021 tttttttctg agtcatctca gctgttgtgt gtatcaatag ttcatttcct tttactgttt
     4081 tgtttggttt aactcattga cctattgaag gatatctggg ctcattccag tctgtgaata
     4141 atgctgctgt ggacattcat gtgcaagttt ttgtgtgaac attaagtttt catttcttta
     4201 agataaatgc ccaggagtga aactgatggg ttgtatgtag ttacaaactg ccaagctgtt
     4261 ttccagagtt ggcggtacca ttctaatttc ccatgacaat tttttgaaga gtccaagcta
     4321 gttgctttag agtgcctcac ctacattttt taattgtctg actttttcct aatgacatca
     4381 cttaatttgt tcctcaatct cctgaatttc ctatagactg gaggttaggt ctggtggttt
     4441 gattagattt tttaaaaaaa tatgacttca tctgtgatgc tgtgtacttt atgttgcata
     4501 acatgaaccc taagaacaga gtgagctgct ggacagcaag tttcatgggg tgcagtaatt
     4561 aacacaccac atagtataaa tctgaaataa tgacaaatgt gttaagggcc ttgggatatt
     4621 gggccatgta ctctgaggag cacaaggtga ggtgcaggtt cctgccccta aagaactcta
     4681 tcttttgaga ttagcaacta acagtgtgag cccactaata ggatgtgaaa gttgtcaaaa
     4741 tcaagttctg gtcattgtgt taaaaatcct aacaaataga gctggggaag gccgtgaaag
     4801 gacgattttc atgcacagat gtctgataat gaggactatc attaaaagac tgcacaaaac
     4861 cacaccttgc acaaaggcca tcacaacctg acacacacaa aaaatacttc tatgaggaca
     4921 tttgcccagc aactccctgt ccaatgtcca actggcaaca tccttgttat tgatccttgt
     4981 agccaaggat aattctctca aaacaatcat ttttgcttta aaaaccgttg tcttccttga
     5041 cctccctgta tatgcacata gtttactgtg gcacttgtat tcttattgca atgcctactc
     5101 ctgaataaac atcattttct ttcagagagt ctccctctct gttatttagg ctgacaagga
     5161 tatgccaaga agtagcttgg atatagcagt taactctgcc tttaggatat gtgtatgggg
     5221 atataagagt taactaaaag ctgacctttg agttggtcct tgaataaaag aagaatagat
     5281 tccaaaaata agaggaataa ataatgatcc tgagctagga gagtacattt tgcagacctt
     5341 tggtttccat attaagaaat tcagattttt atgtacaata aagaagttct ggaattctc
//
LOCUS       NM_001045               6335 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens solute carrier family 6 member 4 (SLC6A4), mRNA.
ACCESSION   NM_001045
VERSION     NM_001045.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6335)
  AUTHORS   Chen G, Xu J, Wei S, Meng M, Lan C, Zhao C and Ma Y.
  TITLE     [Association of SLC6A4 gene c.*670T>G polymorphism with the risk for
            asthma and peripheral blood cytological characteristics among ethnic
            Zhuang Chinese population]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (10), 1228-1235 (2023)
   PUBMED   37730222
  REMARK    GeneRIF: [Association of SLC6A4 gene c.*670T>G polymorphism with the
            risk for asthma and peripheral blood cytological characteristics
            among ethnic Zhuang Chinese population].
REFERENCE   2  (bases 1 to 6335)
  AUTHORS   Simonyte S, Grabauskyte I, Macijauskiene J, Lesauskaite V,
            Lesauskaite V, Kvaal KS and Stewart R.
  TITLE     Associations of the serotonin transporter gene polymorphism,
            5-HTTLPR, and adverse life events with late life depression in the
            elderly Lithuanian population
  JOURNAL   Sci Rep 13 (1), 12920 (2023)
   PUBMED   37558806
  REMARK    GeneRIF: Associations of the serotonin transporter gene
            polymorphism, 5-HTTLPR, and adverse life events with late life
            depression in the elderly Lithuanian population. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 6335)
  AUTHORS   Suchacki KJ, Ramage LE, Kwok TC, Kelman A, McNeill BT, Rodney S,
            Keegan M, Gray C, MacNaught G, Patel D, Fletcher AM, Simpson JP,
            Carter RN, Semple RK, Homer NZM, Morton NM, van Beek EJR, Wakelin SJ
            and Stimson RH.
  TITLE     The serotonin transporter sustains human brown adipose tissue
            thermogenesis
  JOURNAL   Nat Metab 5 (8), 1319-1336 (2023)
   PUBMED   37537371
  REMARK    GeneRIF: The serotonin transporter sustains human brown adipose
            tissue thermogenesis.
REFERENCE   4  (bases 1 to 6335)
  AUTHORS   Hartmann N, Knierim M, Maurer W, Dybkova N, Hasenfuss G, Sossalla S
            and Streckfuss-Bomeke K.
  TITLE     Molecular and Functional Relevance of NaV1.8-Induced Atrial
            Arrhythmogenic Triggers in a Human SCN10A Knock-Out Stem Cell Model
  JOURNAL   Int J Mol Sci 24 (12), 10189 (2023)
   PUBMED   37373335
  REMARK    GeneRIF: Molecular and Functional Relevance of NaV1.8-Induced Atrial
            Arrhythmogenic Triggers in a Human SCN10A Knock-Out Stem Cell Model.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6335)
  AUTHORS   Parvez S, Fatima G, Mahdi F, Hadi NR and Fedacko J.
  TITLE     ASSESSMENT OF THE ASSOCIATION OF SEROTONIN TRANSPORTER GENE
            (5-HTTVNTR & 5-HTTLPR) POLYMORPHISM IN PATIENTS WITH FIBROMYALGIA
            SYNDROME
  JOURNAL   Wiad Lek 76 (6), 1378-1384 (2023)
   PUBMED   37463371
  REMARK    GeneRIF: ASSESSMENT OF THE ASSOCIATION OF SEROTONIN TRANSPORTER GENE
            (5-HTTVNTR & 5-HTTLPR) POLYMORPHISM IN PATIENTS WITH FIBROMYALGIA
            SYNDROME.
REFERENCE   6  (bases 1 to 6335)
  AUTHORS   Gelernter J, Pakstis AJ and Kidd KK.
  TITLE     Linkage mapping of serotonin transporter protein gene SLC6A4 on
            chromosome 17
  JOURNAL   Hum Genet 95 (6), 677-680 (1995)
   PUBMED   7789954
REFERENCE   7  (bases 1 to 6335)
  AUTHORS   Lesch KP, Balling U, Gross J, Strauss K, Wolozin BL, Murphy DL and
            Riederer P.
  TITLE     Organization of the human serotonin transporter gene
  JOURNAL   J Neural Transm Gen Sect 95 (2), 157-162 (1994)
   PUBMED   7865169
REFERENCE   8  (bases 1 to 6335)
  AUTHORS   Lesch KP, Wolozin BL, Murphy DL and Reiderer P.
  TITLE     Primary structure of the human platelet serotonin uptake site:
            identity with the brain serotonin transporter
  JOURNAL   J Neurochem 60 (6), 2319-2322 (1993)
   PUBMED   7684072
REFERENCE   9  (bases 1 to 6335)
  AUTHORS   Ramamoorthy S, Bauman AL, Moore KR, Han H, Yang-Feng T, Chang AS,
            Ganapathy V and Blakely RD.
  TITLE     Antidepressant- and cocaine-sensitive human serotonin transporter:
            molecular cloning, expression, and chromosomal localization
  JOURNAL   Proc Natl Acad Sci U S A 90 (6), 2542-2546 (1993)
   PUBMED   7681602
REFERENCE   10  (bases 1 to 6335)
  AUTHORS   Epshtein,B.V., Nishchenko,V.F. and Timchenko,P.K.
  TITLE     [Hyperbaric oxygenation in the complex treatment of patients with
            diabetes mellitus]
  JOURNAL   Vrach Delo (1), 65-66 (1988)
   PUBMED   3363943
  REMARK    GeneRIF: [Hyperbaric oxygenation in the complex treatment of
            patients with diabetes mellitus].', trans 'Giperbaricheskaia
            oksigenatsiia v kompleknom lechenii bol'nykh sakharnym diabetom.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK313166.1, AK308014.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1968189
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
            is not conserved
            MANE Ensembl match :: ENST00000650711.1/ ENSP00000498537.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC345903.1, AC104984.14,
            AK313166.1, AY902473.1 and BE645279.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001045.5.
            Summary: This gene encodes an integral membrane protein that
            transports the neurotransmitter serotonin from synaptic spaces into
            presynaptic neurons. The encoded protein terminates the action of
            serotonin and recycles it in a sodium-dependent manner. This
            protein is a target of psychomotor stimulants, such as amphetamines
            and cocaine, and is a member of the sodium:neurotransmitter
            symporter family. A repeat length polymorphism in the promoter of
            this gene has been shown to affect the rate of serotonin uptake.
            There have been conflicting results in the literature about the
            possible effect, if any, that this polymorphism may play in
            behavior and depression. [provided by RefSeq, May 2019].
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments. There is an
            upstream in-frame AUG at nt 451-453 with a weak Kozak signal. This
            was not annotated as the translation start because it has a weak
            Kozak signal, while the downstream AUG at nt 577-579 has a strong
            Kozak signal, and is not conserved in-frame in other vertebrates
            except chimp.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6335
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..6335
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="solute carrier family 6 member 4"
                     /db_xref="GeneID:6532"
                     /db_xref="HGNC:HGNC:11050"
                     /db_xref="MIM:182138"
     misc_feature    180..182
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     MSQSRRVNPDDRELGGDPQIQAPRDQLGSLADGHQCHLLTSR"
     CDS             306..2198
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="5HT transporter; Na+/Cl- dependent serotonin
                     transporter; solute carrier family 6 (neurotransmitter
                     transporter, serotonin), member 4; serotonin transporter 1;
                     5-hydroxytryptamine (serotonin) transporter; solute carrier
                     family 6 (neurotransmitter transporter), member 4"
                     /codon_start=1
                     /product="sodium-dependent serotonin transporter"
                     /protein_id="NP_001036.1"
                     /db_xref="CCDS:CCDS11256.1"
                     /db_xref="GeneID:6532"
                     /db_xref="HGNC:HGNC:11050"
                     /db_xref="MIM:182138"
                     /translation="METTPLNSQKQLSACEDGEDCQENGVLQKVVPTPGDKVESGQISN
                     GYSAVPSPGAGDDTRHSIPATTTTLVAELHQGERETWGKKVDFLLSVIGYAVDLGNVWR
                     FPYICYQNGGGAFLLPYTIMAIFGGIPLFYMELALGQYHRNGCISIWRKICPIFKGIGY
                     AICIIAFYIASYYNTIMAWALYYLISSFTDQLPWTSCKNSWNTGNCTNYFSEDNITWTL
                     HSTSPAEEFYTRHVLQIHRSKGLQDLGGISWQLALCIMLIFTVIYFSIWKGVKTSGKVV
                     WVTATFPYIILSVLLVRGATLPGAWRGVLFYLKPNWQKLLETGVWIDAAAQIFFSLGPG
                     FGVLLAFASYNKFNNNCYQDALVTSVVNCMTSFVSGFVIFTVLGYMAEMRNEDVSEVAK
                     DAGPSLLFITYAEAIANMPASTFFAIIFFLMLITLGLDSTFAGLEGVITAVLDEFPHVW
                     AKRRERFVLAVVITCFFGSLVTLTFGGAYVVKLLEEYATGPAVLTVALIEAVAVSWFYG
                     ITQFCRDVKEMLGFSPGWFWRICWVAISPLFLLFIICSFLMSPPQLRLFQYNYPYWSII
                     LGYCIGTSSFICIPTYIAYRLIITPGTFKERIIKSITPETPTEIPCGDIRLNAV"
     misc_feature    306..482
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    444..446
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:21992875; propagated from
                     UniProtKB/Swiss-Prot (P31645.1); phosphorylation site"
     misc_feature    567..641
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1);
                     transmembrane region"
     misc_feature    651..710
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1);
                     transmembrane region"
     misc_feature    729..731
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:21992875; propagated from
                     UniProtKB/Swiss-Prot (P31645.1); phosphorylation site"
     misc_feature    786..863
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1);
                     transmembrane region"
     misc_feature    927..929
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255, ECO:0000269|PubMed:27049939;
                     propagated from UniProtKB/Swiss-Prot (P31645.1);
                     glycosylation site"
     misc_feature    954..956
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255, ECO:0000269|PubMed:27049939;
                     propagated from UniProtKB/Swiss-Prot (P31645.1);
                     glycosylation site"
     misc_feature    1062..1118
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1);
                     transmembrane region"
     misc_feature    1131..1133
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="Phosphothreonine, by PKG.
                     /evidence=ECO:0000269|PubMed:17913921; propagated from
                     UniProtKB/Swiss-Prot (P31645.1); phosphorylation site"
     misc_feature    1137..1196
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1);
                     transmembrane region"
     misc_feature    1278..1346
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1);
                     transmembrane region"
     misc_feature    1386..1445
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1);
                     transmembrane region"
     misc_feature    1569..1634
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1);
                     transmembrane region"
     misc_feature    1695..1754
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1);
                     transmembrane region"
     misc_feature    1788..1853
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1);
                     transmembrane region"
     misc_feature    1920..1979
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1);
                     transmembrane region"
     misc_feature    2028..2090
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1);
                     transmembrane region"
     misc_feature    2151..2177
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="propagated from UniProtKB/Swiss-Prot (P31645.1);
                     Region: Interaction with RAB4A"
     regulatory      2742..2747
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="hexamer: AATGAA"
     polyA_site      2766
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="major polyA site"
     regulatory      2870..2875
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="hexamer: AACAAA"
     polyA_site      2889
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="major polyA site"
     regulatory      4466..4471
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="hexamer: AATAGA"
     polyA_site      4488
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
     regulatory      6314..6319
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
                     /note="hexamer: AATAAA"
     polyA_site      6335
                     /gene="SLC6A4"
                     /gene_synonym="5-HTT; 5-HTTLPR; 5HTT; hSERT; HTT; OCD1;
                     SERT; SERT1"
ORIGIN
        1 acagccagcg ccgccgggtg cctcgagggc gcgaggccag cccgcctgcc cagcccggga
       61 ccagcctccc cgcgcagcct ggcaggtctc ctggaggcaa ggcgaccttg cttgccctct
      121 cttgcagaat aacaaggggc ttagccacag gagttgctgg caagtggaaa gaagaacaaa
      181 tgagtcaatc ccgacgtgtc aatcccgacg atagagagct cggaggtgat ccacaaatcc
      241 aagcacccag agatcaattg ggatccttgg cagatggaca tcagtgtcat ttactaacca
      301 gcaggatgga gacgacgccc ttgaattctc agaagcagct atcagcgtgt gaagatggag
      361 aagattgtca ggaaaacgga gttctacaga aggttgttcc caccccaggg gacaaagtgg
      421 agtccgggca aatatccaat gggtactcag cagttccaag tcctggtgcg ggagatgaca
      481 cacggcactc tatcccagcg accaccacca ccctagtggc tgagcttcat caaggggaac
      541 gggagacctg gggcaagaag gtggatttcc ttctctcagt gattggctat gctgtggacc
      601 tgggcaatgt ctggcgcttc ccctacatat gttaccagaa tggagggggg gcattcctcc
      661 tcccctacac catcatggcc atttttgggg gaatcccgct cttttacatg gagctcgcac
      721 tgggacagta ccaccgaaat ggatgcattt caatatggag gaaaatctgc ccgattttca
      781 aagggattgg ttatgccatc tgcatcattg ccttttacat tgcttcctac tacaacacca
      841 tcatggcctg ggcgctatac tacctcatct cctccttcac ggaccagctg ccctggacca
      901 gctgcaagaa ctcctggaac actggcaact gcaccaatta cttctccgag gacaacatca
      961 cctggaccct ccattccacg tcccctgctg aagaatttta cacgcgccac gtcctgcaga
     1021 tccaccggtc taaggggctc caggacctgg ggggcatcag ctggcagctg gccctctgca
     1081 tcatgctgat cttcactgtt atctacttca gcatctggaa aggcgtcaag acctctggca
     1141 aggtggtgtg ggtgacagcc accttccctt atatcatcct ttctgtcctg ctggtgaggg
     1201 gtgccaccct ccctggagcc tggaggggtg ttctcttcta cttgaaaccc aattggcaga
     1261 aactcctgga gacaggggtg tggatagatg cagccgctca gatcttcttc tctcttggtc
     1321 cgggctttgg ggtcctgctg gcttttgcta gctacaacaa gttcaacaac aactgctacc
     1381 aagatgccct ggtgaccagc gtggtgaact gcatgacgag cttcgtttcg ggatttgtca
     1441 tcttcacagt gctcggttac atggctgaga tgaggaatga agatgtgtct gaggtggcca
     1501 aagacgcagg tcccagcctc ctcttcatca cgtatgcaga agcgatagcc aacatgccag
     1561 cgtccacttt ctttgccatc atcttctttc tgatgttaat cacgctgggc ttggacagca
     1621 cgtttgcagg cttggagggg gtgatcacgg ctgtgctgga tgagttccca cacgtctggg
     1681 ccaagcgccg ggagcggttc gtgctcgccg tggtcatcac ctgcttcttt ggatccctgg
     1741 tcaccctgac ttttggaggg gcctacgtgg tgaagctgct ggaggagtat gccacggggc
     1801 ccgcagtgct cactgtcgcg ctgatcgaag cagtcgctgt gtcttggttc tatggcatca
     1861 ctcagttctg cagggacgtg aaggaaatgc tcggcttcag cccggggtgg ttctggagga
     1921 tctgctgggt ggccatcagc cctctgtttc tcctgttcat catttgcagt tttctgatga
     1981 gcccgccaca actacgactt ttccaatata attatcctta ctggagtatc atcttgggtt
     2041 actgcatagg aacctcatct ttcatttgca tccccacata tatagcttat cggttgatca
     2101 tcactccagg gacatttaaa gagcgtatta ttaaaagtat taccccagaa acaccaacag
     2161 aaattccttg tggggacatc cgcttgaatg ctgtgtaaca cactcaccga gaggaaaaag
     2221 gcttctccac aacctcctcc tccagttctg atgaggcacg cctgccttct cccctccaag
     2281 tgaatgagtt tccagctaag cctgatgatg gaagggcctt ctccacaggg acacagtctg
     2341 gtgcccagac tcaaggcctc cagccactta tttccatgga ttcccctgga catattccca
     2401 tggtagactg tgacacagct gagctggcct attttggacg tgtgaggatg tggatggagg
     2461 tgatgaaaac caccctatca tcagttagga ttaggtttag aatcaagtct gtgaaagtct
     2521 cctgtatcat ttcttggtat gatcattggt atctgatatc tgtttgcttc taaaggtttc
     2581 actgttcatg aatacgtaaa ctgcgtagga gagaacaggg atgctatctc gctagccata
     2641 tattttctga gtagcatata taattttatt gctggaatct actagaacct tctaatccat
     2701 gtgctgctgt ggcatcagga aaggaagatg taagaagcta aaatgaaaaa tagtgtgtcc
     2761 atgcaagctt gtgagtctgt gtatattgtt gtttcagtgt attcttatct ctagtccaat
     2821 attttgggcc cattacaaat atatgaattc cccaaatttt tcttacatta acaaattcta
     2881 ccaactcaat tgtgtatgga ggttattatt tgaagggtac aatcactaca acatgctctg
     2941 ccacccactc cttttccagt gacactactt gagccacaca ctttccttta caggccagcc
     3001 tctggcgttt gctgcacctc attgccacct tcctgtctct ctgtgctaaa cattcaggac
     3061 agtgttccac aggcagatct ggcctatttc attagtcacc atggcttggc tgtgaagtac
     3121 gttgaaggtg gatcttgtca catgcccctt cagtgttcac ctggccctct ggtttaagtt
     3181 ctgtctgcct tacgtgactg agtttgactg tccaggttgc tttgctcggt gaagagagga
     3241 gggtaaatcg gattctcgtt tagcactggg ttatacagat ctggcaccct aacctaaacc
     3301 aaggcatctt cactccaaga gcagttggag agtctgggtt agccttacgt ggacctcgcc
     3361 gctcgctggc ggtcacgatt gtgagccctc cagataattt ttaaggttga gtctaagtaa
     3421 ggctgcttgg gaaatggtca gctaagtaaa tcacctttca tttcacataa ggcccttaat
     3481 atagataagt aaatttggcc tttggtgtct cgtgactctc agaggcgtag gtagaggagc
     3541 aaattaatat ttgcagcatg ggaattcctt atcagaattt tgaggggaat aaatcctcat
     3601 cagagacaaa aggacttaat catctggcca cctatcactt cagttctctg tataaatgaa
     3661 atttaattct aacaacctta taaaaagaag gtccagacag cagaggaaac atcctgtcca
     3721 attctaggtt ttcctccctt ggcctccttt ccccagcatt gtctaccctg gcccacttcc
     3781 tgcattctcc ccatgccctg ctatttctga ttctttgctt ctcctagcga gatactttcc
     3841 ttatatgata gctgctgaga agtttcccag aactgctaga ggaaaagaag tggggaattt
     3901 aggaaatatc cctcactgac ctaactccat tatcttcact ctttccttct tcctgccacc
     3961 tcatgcccat tctctttact gtctagcatg ctgaaagaag gaagtgatct aaatgccagc
     4021 gtgttcagtg gtaaatatta gttggtgcaa aagaaaaacc atgattactt ttgcactaac
     4081 ctaatagctt tgcaaatttt aagaacttgc tttatgaaga tattcggata tggattctcc
     4141 ccaccccaca tacttagaca ttgttcaaat atactacttt taaaaaaaca ccttttcaaa
     4201 cagaattagc gttttgccaa gtctggtatt aatggaattg tacaggagct ttgaaagttt
     4261 tcaaacttta ttaaactaaa aaaaaaaaat cgaaaatctc tgtctgttcc gcatagtatg
     4321 catttatttg acccctattt atcaatacta tgatggggtt tttttttttt aaagaaaatt
     4381 taagagtagg taggtggatt ttaaaataat attttaaaga ccttttatat ctatatgtag
     4441 catttataga aaaataaaaa ctaaaaatag aattgaattg taacattatt taaggactga
     4501 agtttttttt cttgtatcag taagaaatac ccaagaggct gggtgcagtg actcacacct
     4561 gtaatcccag cactttggga ggctgcagtg ggaggatcac atgacatcag gagtttgaga
     4621 ccagcttggc caacatagtg aaacgccgtc tctattaaaa atacagaaaa ttagctgaat
     4681 gtggtggcag gcgcctataa ttcctgctac ttgggaggct gaggcaggag aattgcttga
     4741 acccaggagg cagaggttgc agtgagccaa acgttccact gcattccagc ctggatgaca
     4801 agagcgaaac tccgtctcaa aaaaaaaaaa aaaaattgtt atgcttagtt ccatggaaag
     4861 actattctga agctttaagt cttctttttc tattttccat agtattgccc cttccccact
     4921 tcattgctta actgtctcta aattttaatg ataataatat tttaaaggtc agataatgcc
     4981 attagaggca gagacaaacc tggggaccaa gctaatttct ctgttattga gagcgctaaa
     5041 gacaggtgaa ctggagtttt atttcctctg ctagagtgaa ataataccct ctccaccagg
     5101 cacaatggct cacacctgta attccagcac tttgggaggc caaggtgggc ggatcacttg
     5161 aggtcaggag ttcgagacca gcctggccaa catggtgaaa ccccatctct actaaaaata
     5221 caaaaattag ccagccatgg tggcatgctc ctgtaatccc agctacttgg gagactgagg
     5281 tgggataatc acttgaacct gggaggcgga ggttgcagtg agctgagatt gtgccactgc
     5341 actccagcct gggtgacaga gcaagactcc atctaaaaaa caaaaacaaa aacaaaaaaa
     5401 ccctctcaat tggtttaata ccacgataga aaagataaat attttaggat ggaatcttaa
     5461 atatgtctgt ccttttgttt catatagttg aaatcaattc agtattgttt ctacattagg
     5521 tgtttcaaaa acagtcacct ttgcaacaga agagctcttt tgttgaaaat gattcacaat
     5581 atatttcagt tggaatgtca ggtggtattt ctcttaccaa cacctcacag aatctatgcc
     5641 aagctgctct accaccaatg caagtatttt tttaaagcta ctaaaataaa ctttcttcac
     5701 cagccaactc taatttggag acagtgtgca ttggtgaagg acctcgtcag aataagtttg
     5761 aatgtctact gaactaagaa gaattttgtc gtttggggga gagaatagat ggcatcagtc
     5821 cttcaattct gtaactgaag actccaatta tagtagataa gaattgtgtc tagcaatttt
     5881 taaacactga cagtccaaac aaaaatattt ggtgaggaag gatgtcccat atttttgctt
     5941 aaatatcata aacaaatatg agcatttact aattttttaa atggcatttt gaaagattat
     6001 tcttatttac actctaaaat taaaggtgta ctttatctta agaaaatgat atattaaaaa
     6061 ttcatatttt aaaagataaa attggggaat ttacagttat tttgtgaatg gcctttaaac
     6121 tatgatttga tctatataca acttttcaga atacttttga ttgtgtgttg gacatatcta
     6181 aaattaattt tatctggcag aattaaacct aaatttattt gtataaaaga gtcccctttc
     6241 taaaattcat acagtgccct tgtattcatt tatgcagtgt ttataaatat ttcaagttag
     6301 attgtgagat attaataaat gatttatgct gtgaa
//
LOCUS       NM_001045476            1265 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens WD repeat domain 38 (WDR38), transcript variant 2,
            mRNA.
ACCESSION   NM_001045476
VERSION     NM_001045476.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1265)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz
            TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha
            SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA,
            McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley
            KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM,
            Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan
            A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko
            Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC,
            Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS,
            Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones
            SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC150645.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000373574.2/ ENSP00000362677.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC150645.1, AL354928.9 and AA867995.1.
            On Jun 2, 2019 this sequence version replaced NM_001045476.2.
            Transcript Variant: This variant (2) has an alternate splice site
            in the 3' coding region, compared to variant 1. The resulting
            isoform (2) lacks an internal aa, compared to isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
FEATURES             Location/Qualifiers
     source          1..1265
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.3"
     gene            1..1265
                     /gene="WDR38"
                     /note="WD repeat domain 38"
                     /db_xref="GeneID:401551"
                     /db_xref="HGNC:HGNC:23745"
     CDS             73..1017
                     /gene="WDR38"
                     /note="isoform 2 is encoded by transcript variant 2; WD
                     repeat-containing protein 38"
                     /codon_start=1
                     /product="WD repeat-containing protein 38 isoform 2"
                     /protein_id="NP_001038941.1"
                     /db_xref="CCDS:CCDS43876.1"
                     /db_xref="GeneID:401551"
                     /db_xref="HGNC:HGNC:23745"
                     /translation="MNSGVPATLAVRRVKFFGQHGGEVNSSAFSPDGQMLLTGSEDGCV
                     YGWETRSGQLLWRLGGHTGPVKFCRFSPDGHLFASASCDCTVRLWDVARAKCLRVLKGH
                     QRSVETVSFSPDSRQLASGGWDKRVMLWDVQSGQMLRLLVGHRDSIQSSDFSPTVNCLA
                     TGSWDSTVHIWDLRMVTPAVSHQALEGHSANISCLCYSASGLLASGSWDKTIHIWKPTT
                     SSLLIQLKGHVTWVKSIAFSPDELWLASAGYSRMVKVWDCNTGKCLETLKGVLDVAHTC
                     AFTPDGKILVSGAADQTRRQISRTSKSPRDPQT"
     misc_feature    127..246
                     /gene="WDR38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTN6.1);
                     Region: WD 1"
     misc_feature    253..372
                     /gene="WDR38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTN6.1);
                     Region: WD 2"
     misc_feature    379..498
                     /gene="WDR38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTN6.1);
                     Region: WD 3"
     misc_feature    505..624
                     /gene="WDR38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTN6.1);
                     Region: WD 4"
     misc_feature    640..756
                     /gene="WDR38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTN6.1);
                     Region: WD 5"
     misc_feature    763..888
                     /gene="WDR38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTN6.1);
                     Region: WD 6"
     misc_feature    892..1008
                     /gene="WDR38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTN6.1);
                     Region: WD 7"
     misc_feature    952..1014
                     /gene="WDR38"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5JTN6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     polyA_site      1265
                     /gene="WDR38"
                     /note="major polyA site"
ORIGIN
        1 cctctgccca gtcctggggt cccgcggccg cctaggaggg agcccgccgg ggcggggcgg
       61 ggccgggtgc ccatgaacag cggggtcccg gccacgctgg ccgtgcggag agtgaaattc
      121 ttcggccagc acggcgggga ggtcaactct tctgccttct cccctgatgg ccagatgctg
      181 ctcacaggct cagaagatgg ctgcgtgtat ggctgggaga cccggagtgg gcagctgctg
      241 tggaggctgg gtggccacac aggccccgtg aagttctgcc gcttctcccc tgatggccac
      301 ctcttcgcca gcgcctcctg tgactgcact gtccgcctgt gggatgtggc aagagcgaag
      361 tgtctgcggg tcctgaaggg tcaccaacgg agtgtggaga cggtcagctt cagccctgac
      421 tcgagacagc tggcatcagg tggctgggac aagcgggtga tgctctggga tgtgcagtcc
      481 ggccagatgc tgcgcctctt agttgggcac cgtgactcca tccagagcag cgacttctca
      541 cccacggtga actgcctggc caccggctcc tgggactcca ccgtacacat ctgggacctg
      601 cggatggtga ccccagcagt ctcccaccag gcgctagagg gacacagtgc caacatcagc
      661 tgcctgtgct attcagcatc cggcctcctg gcatccggct cctgggacaa gaccatccac
      721 atctggaagc ccacaaccag cagcctgctt atccaactga agggccatgt cacctgggtg
      781 aagagcatag ccttctctcc cgacgagctg tggctggcca gcgccggcta ttcccgcatg
      841 gtcaaagtct gggactgcaa cacaggaaag tgccttgaga ccctgaaggg agtcctggat
      901 gtggcccaca cctgtgcctt caccccagat gggaaaatct tagtgtctgg agctgccgat
      961 cagactagac gtcaaatatc ccgcacgtcc aaatcaccca gggaccctca aacctaacac
     1021 caaccacctt agatggtgcc gacctcaccc gctcccctca gtggcgcaca ggcatgccgc
     1081 ttctccccac agacgcaaag tgactgtgct ggcatccagc agatccccat ggccaggact
     1141 ctccaggccc caccagagca gacaactgtg gtgggcagga cgcttgctgg aacccatcag
     1201 acacctggtc cccaaaacca gacccaccca cctccaccca atcagtggaa gtgccaggaa
     1261 acaaa
//
LOCUS       NM_001045556            2995 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens Src like adaptor (SLA), transcript variant 1, mRNA.
ACCESSION   NM_001045556
VERSION     NM_001045556.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2995)
  AUTHORS   Kennedy SA, Jarboui MA, Srihari S, Raso C, Bryan K, Dernayka L,
            Charitou T, Bernal-Llinares M, Herrera-Montavez C, Krstic A,
            Matallanas D, Kotlyar M, Jurisica I, Curak J, Wong V, Stagljar I,
            LeBihan T, Imrie L, Pillai P, Lynn MA, Fasterius E, Al-Khalili
            Szigyarto C, Breen J, Kiel C, Serrano L, Rauch N, Rukhlenko O,
            Kholodenko BN, Iglesias-Martinez LF, Ryan CJ, Pilkington R,
            Cammareri P, Sansom O, Shave S, Auer M, Horn N, Klose F, Ueffing M,
            Boldt K, Lynn DJ and Kolch W.
  TITLE     Extensive rewiring of the EGFR network in colorectal cancer cells
            expressing transforming levels of KRASG13D
  JOURNAL   Nat Commun 11 (1), 499 (2020)
   PUBMED   31980649
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2995)
  AUTHORS   Sharma N, Ponce M, Kaul S, Pan Z, Berry DM, Eiwegger T and McGlade
            CJ.
  TITLE     SLAP Is a Negative Regulator of FcepsilonRI Receptor-Mediated
            Signaling and Allergic Response
  JOURNAL   Front Immunol 10, 1020 (2019)
   PUBMED   31156621
  REMARK    GeneRIF: SLAP Is a Negative Regulator of FcepsilonRI
            Receptor-Mediated Signaling and Allergic Response. Publication
            Status: Online-Only
REFERENCE   3  (bases 1 to 2995)
  AUTHORS   Kim JH, Moon JS, Yu J and Lee SK.
  TITLE     Intracellular cytoplasm-specific delivery of SH3 and SH2 domains of
            SLAP inhibits TcR-mediated signaling
  JOURNAL   Biochem Biophys Res Commun 460 (3), 603-608 (2015)
   PUBMED   25800872
  REMARK    GeneRIF: results suggest that cytoplasm-specific transduction of the
            SH3 and SH2 domains of SLAP has a therapeutic potential of being an
            immunosuppressive reagent for the treatment of various autoimmune
            diseases
REFERENCE   4  (bases 1 to 2995)
  AUTHORS   Marton N, Baricza E, Ersek B, Buzas EI and Nagy G.
  TITLE     The Emerging and Diverse Roles of Src-Like Adaptor Proteins in
            Health and Disease
  JOURNAL   Mediators Inflamm 2015, 952536 (2015)
   PUBMED   26339145
  REMARK    Review article
REFERENCE   5  (bases 1 to 2995)
  AUTHORS   Tang J, Sawasdikosol S, Chang JH and Burakoff SJ.
  TITLE     SLAP, a dimeric adapter protein, plays a functional role in T cell
            receptor signaling
  JOURNAL   Proc Natl Acad Sci U S A 96 (17), 9775-9780 (1999)
   PUBMED   10449770
REFERENCE   6  (bases 1 to 2995)
  AUTHORS   Roche S, Alonso G, Kazlauskas A, Dixit VM, Courtneidge SA and Pandey
            A.
  TITLE     Src-like adaptor protein (Slap) is a negative regulator of
            mitogenesis
  JOURNAL   Curr Biol 8 (17), 975-978 (1998)
   PUBMED   9742401
REFERENCE   7  (bases 1 to 2995)
  AUTHORS   Meijerink PH, Yanakiev P, Zorn I, Grierson AJ, Bikker H, Dye D,
            Kalaydjieva L and Baas F.
  TITLE     The gene for the human Src-like adaptor protein (hSLAP) is located
            within the 64-kb intron of the thyroglobulin gene
  JOURNAL   Eur J Biochem 254 (2), 297-303 (1998)
   PUBMED   9660183
REFERENCE   8  (bases 1 to 2995)
  AUTHORS   Ohtsuki T, Hatake K, Ikeda M, Tomizuka H, Terui Y, Uwai M and Miura
            Y.
  TITLE     Expression of Src-like adapter protein mRNA is induced by all-trans
            retinoic acid
  JOURNAL   Biochem Biophys Res Commun 230 (1), 81-84 (1997)
   PUBMED   9020066
REFERENCE   9  (bases 1 to 2995)
  AUTHORS   Angrist M, Wells DE, Chakravarti A and Pandey A.
  TITLE     Chromosomal localization of the mouse Src-like adapter protein
            (Slap) gene and its putative human homolog SLA
  JOURNAL   Genomics 30 (3), 623-625 (1995)
   PUBMED   8825655
REFERENCE   10  (bases 1 to 2995)
  AUTHORS   Pandey A, Duan H and Dixit VM.
  TITLE     Characterization of a novel Src-like adapter protein that associates
            with the Eck receptor tyrosine kinase
  JOURNAL   J Biol Chem 270 (33), 19201-19204 (1995)
   PUBMED   7543898
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX648382.1, SRR1803612.267737.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000338087.10/ ENSP00000337548.5
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            U44403.1, BX648382.1, DB265860.1 and D89077.1.
            On Nov 23, 2018 this sequence version replaced NM_001045556.2.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform (a).
            CCDS Note: This CCDS represents a 276 aa protein that is encoded by
            NM_001045556.2, which is based on BX648382.1 and several locally
            supporting ESTs. However, it should be noted that NM_001045556.2
            contains an upstream translation start codon at nts 504-506, as
            used in the NM_001045557.2 variant which encodes a 293 aa protein.
            The use of this upstream start codon in NM_001045556.2 would result
            in only a 15 aa ORF with a stop codon in the second exon. The short
            length of this upstream ORF may allow escape from nonsense-mediated
            mRNA decay (NMD) and translation reinitiation at the downstream
            start codon (nts 833-835) to encode the represented 276 aa protein,
            or alternatively, the weak Kozak signal at the upstream start codon
            may enable leaky scanning by the translation machinery and
            subsequent use of the downstream start codon. The 276 aa protein is
            consistent with reports in the literature, including PMIDs:7543898,
            8825655 and 9660183. Variants encoding both the longer and shorter
            isoforms are also present in mouse (NM_001029841.3 and NM_009192.2,
            respectively).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2995
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.22"
     gene            1..2995
                     /gene="SLA"
                     /gene_synonym="SLA1; SLAP"
                     /note="Src like adaptor"
                     /db_xref="GeneID:6503"
                     /db_xref="HGNC:HGNC:10902"
                     /db_xref="MIM:601099"
     misc_feature    324..326
                     /gene="SLA"
                     /gene_synonym="SLA1; SLAP"
                     /note="upstream in-frame stop codon"
     CDS             369..1199
                     /gene="SLA"
                     /gene_synonym="SLA1; SLAP"
                     /note="isoform a is encoded by transcript variant 1; hSLAP;
                     SLAP-1; src-like-adapter protein 1"
                     /codon_start=1
                     /product="src-like-adapter isoform a"
                     /protein_id="NP_001039021.1"
                     /db_xref="CCDS:CCDS6370.1"
                     /db_xref="GeneID:6503"
                     /db_xref="HGNC:HGNC:10902"
                     /db_xref="MIM:601099"
                     /translation="MGNSMKSTPAPAERPLPNPEGLDSDFLAVLSDYPSPDISPPIFRR
                     GEKLRVISDEGGWWKAISLSTGRESYIPGICVARVYHGWLFEGLGRDKAEELLQLPDTK
                     VGSFMIRESETKKGFYSLSVRHRQVKHYRIFRLPNNWYYISPRLTFQCLEDLVNHYSEV
                     ADGLCCVLTTPCLTQSTAAPAVRASSSPVTLRQKTVDWRRVSRLQEDPEGTENPLGVDE
                     SLFSYGLRESIASYLSLTSEDNTSFDRKKKSISLMYGGSKRKSSFFSSPPYFED"
     misc_feature    1002..1196
                     /gene="SLA"
                     /gene_synonym="SLA1; SLAP"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13239.3);
                     Region: SLA C-terminal"
     misc_feature    1125..1127
                     /gene="SLA"
                     /gene_synonym="SLA1; SLAP"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P59622; propagated from
                     UniProtKB/Swiss-Prot (Q13239.3); phosphorylation site"
     misc_feature    1185..1187
                     /gene="SLA"
                     /gene_synonym="SLA1; SLAP"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q60898; propagated from
                     UniProtKB/Swiss-Prot (Q13239.3); phosphorylation site"
     misc_feature    441..614
                     /gene="SLA"
                     /gene_synonym="SLA1; SLAP"
                     /note="encodes SH3 domain"
     misc_feature    618..899
                     /gene="SLA"
                     /gene_synonym="SLA1; SLAP"
                     /note="encodes SH2 domain"
     regulatory      2974..2979
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLA"
                     /gene_synonym="SLA1; SLAP"
                     /note="hexamer: AATAAA"
     polyA_site      2995
                     /gene="SLA"
                     /gene_synonym="SLA1; SLAP"
                     /note="major polyA site"
ORIGIN
        1 atcatttgct gcgaatggag aacatctcag gcagccctga tgctccaccg tccttgcaga
       61 gagaagcttg ctcagagtgg ttactgaaaa caggaacctg cccttctgca agccctgtgc
      121 cttcctcgtt cctagcagag gaagtatgcg gccagtttag caactgcagt tcttctgtgt
      181 agcatgggct gcttctccac aaccgcgaga agcccggctg cctgtttatt ctggagcagc
      241 agcagttgac agacggagag gcagtgactc tgcacccagc aatccctctg cagacagctc
      301 ccacaggagt catgcccagt gtgtgaaggc tctgggcatc accagcggcc ccagggaaaa
      361 agaaagaaat gggaaacagc atgaaatcca cccctgcgcc tgccgagagg cccctgccca
      421 acccggaggg actggatagc gacttccttg ccgtgctaag tgactacccg tctcctgaca
      481 tcagcccccc gatattccgc cgaggggaga aactgcgtgt gatttctgat gaagggggct
      541 ggtggaaagc tatttctctt agcactggtc gagagagtta catccctgga atatgtgtgg
      601 ccagagttta ccatggctgg ctgtttgagg gcctgggcag agacaaggcc gaggagctgc
      661 tgcagctgcc agacacaaag gtcggctcct tcatgatcag agagagtgag accaagaaag
      721 ggttttactc actgtcggtg agacacaggc aggtaaagca ttaccgcatt ttccgtctgc
      781 ccaacaactg gtactacatt tccccgaggc tcaccttcca gtgcctggag gacctggtga
      841 accactattc tgaggtggct gatggcctgt gctgtgtgct caccacgccc tgcctgacac
      901 aaagcacggc tgccccagca gtgagggcct ccagctcacc tgtcaccttg cgtcagaaga
      961 ctgtggactg gaggagagtg tccagactgc aggaggaccc cgagggaaca gagaacccgc
     1021 ttggggtaga cgagtccctt ttcagctatg gccttcgaga gagcattgcc tcttacctgt
     1081 ccctgaccag tgaggacaac acctcctttg atcgaaagaa gaaaagcatc tccctgatgt
     1141 atggtggcag caagagaaag agctcattct tctcatcacc accttacttt gaggactagc
     1201 caagaacaga cacaatggtt catgcccaaa aggaacagaa gttccaacta ttgcctggga
     1261 tcttgcgaaa agcgaggttc cctgatccct gggagcctca cgtattttag aagccaagag
     1321 aagccacatg gagactcaaa ttcgcatctt ctctatccac atcatgacca aaggaacccc
     1381 tccctggtgt ctgatcaggg ctgtggcatc acgaaacatt ggatcatgac atgtcgggcg
     1441 atgcttggaa gagcccagca tgtatgtatg cacacattgt gtgtgtggga aggacaaagc
     1501 cactctcaca agaaagggca ccaggactgc tctccaagga actggacctg tccagacagt
     1561 tacactccaa ggtcattgga gagaacttct gtatgggcaa gcctgagagg gagaggaaac
     1621 aaaagctgtg tcctggcaga aggtctgggt ttgcagatgg gtgccctgaa tggaactact
     1681 ttaactaatc catagggact tctggtatgc tttcctctct ttttaaagga acttcgtgac
     1741 actaaacatt agcccaaagg acttcttagc cttcaattgg gagatacctt tggtctgctc
     1801 ctgcaccaaa gccatatggg tggaagtcag ttggcctccc tggttctgca gagggccaga
     1861 agaatgagag agaggaagac tgctggcagg gaaatcgagg aggcgagact agaactgcac
     1921 cagcttccct gatgtctgca gccatggctt tgcagcgcag acagagcttc tctgggatgc
     1981 tgggattctt gcctgtatga atgcatcaag tattcattta ttgcccgaat aggcattgca
     2041 ttaagtcctc tgtaaggtgt caggcaagcc aaaaaaaaaa aaaagatgcg taagtcctaa
     2101 cccccaacag aggtgttcac agtgtagaca gggaaaaaat gtataaacaa atgtgtaaaa
     2161 agagaaatca gctcatggct taggatggaa ttagagacag gtgagggaca ctcaggagct
     2221 cattttccag ctgctcttca gagtggaagg gctggctgga tcgggtaggt aagaatagct
     2281 ggatttttta gaaaagaaat ggatacagtc taaagaatta actcacccgg tactttattc
     2341 taagaagggt ctggcatcca tatgaggaaa aatgctcagc tccaggaaag atggggagtc
     2401 caagtggatt aatgatgtca tgcataattt taagagacaa gggagaaaac acaatgtata
     2461 gccagagaag gagaagctcc catccaaatc ctactaggaa gagagtgggc tgcagatgaa
     2521 tctgtgactc atgtttccct gtttcaaagg gatcctgggg aaggagggga acatgcttgc
     2581 agtatctctc cctgtctgtc tgctcacata agcattccgt ccatctgagc tcatcgtgct
     2641 actggtatgt gtatgtgcag ttacacagtt ttctgtatca tagattctag tgtgtttata
     2701 caaggagaca tctgtggttt ccccaaccgt tccaaaaggc tatttcaaag gaaccagcca
     2761 acgtatgaga aatgaatgta acactgtgga cattgacttc ccgcataagg cagggtgacc
     2821 ccctgaactc cagatgtctg cacagtatct tatgtgttgt tttccgttgt gacgaatgtg
     2881 attggaacat ttggggagca cccagaggga tttctcagtg ggaagcatta cactttgcta
     2941 aatcatgtat ttattcctga ttaaaacaaa cctaataaat atttaaccct tggca
//
LOCUS       NM_001046               6874 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens solute carrier family 12 member 2 (SLC12A2), transcript
            variant 1, mRNA.
ACCESSION   NM_001046
VERSION     NM_001046.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6874)
  AUTHORS   Neumann C, Rosenbaek LL, Flygaard RK, Habeck M, Karlsen JL, Wang Y,
            Lindorff-Larsen K, Gad HH, Hartmann R, Lyons JA, Fenton RA and
            Nissen P.
  TITLE     Cryo-EM structure of the human NKCC1 transporter reveals mechanisms
            of ion coupling and specificity
  JOURNAL   EMBO J 41 (23), e110169 (2022)
   PUBMED   36239040
  REMARK    GeneRIF: Cryo-EM structure of the human NKCC1 transporter reveals
            mechanisms of ion coupling and specificity.
REFERENCE   2  (bases 1 to 6874)
  AUTHORS   Li Y, Li YL, Liu YL, Fu J, Zhang WW and Piao YS.
  TITLE     [Expression of cation chloride cotransporter (NKCC1/KCC2) in brain
            tissue of children with focal cortical dysplasia type ]
  JOURNAL   Zhonghua Bing Li Xue Za Zhi 51 (11), 1123-1128 (2022)
   PUBMED   36323541
  REMARK    GeneRIF: [Expression of cation chloride cotransporter (NKCC1/KCC2)
            in brain tissue of children with focal cortical dysplasia type ].
REFERENCE   3  (bases 1 to 6874)
  AUTHORS   Koumangoye R, Penny P and Delpire E.
  TITLE     Loss of NKCC1 function increases epithelial tight junction
            permeability by upregulating claudin-2 expression
  JOURNAL   Am J Physiol Cell Physiol 323 (4), C1251-C1263 (2022)
   PUBMED   35968893
  REMARK    GeneRIF: Loss of NKCC1 function increases epithelial tight junction
            permeability by upregulating claudin-2 expression.
REFERENCE   4  (bases 1 to 6874)
  AUTHORS   Mohaghghegh H, Ananloo ES, Hadjighasem M, Karimipour M, Hashemizadeh
            S and Abhari SAA.
  TITLE     NKCC1 to KCC2 mRNA Ratio in Schizophrenia and Its Psychopathology: a
            Case-Control Study
  JOURNAL   J Mol Neurosci 72 (8), 1670-1681 (2022)
   PUBMED   35624355
  REMARK    GeneRIF: NKCC1 to KCC2 mRNA Ratio in Schizophrenia and Its
            Psychopathology: a Case-Control Study.
REFERENCE   5  (bases 1 to 6874)
  AUTHORS   Benz C, Ali M, Krystkowiak I, Simonetti L, Sayadi A, Mihalic F,
            Kliche J, Andersson E, Jemth P, Davey NE and Ivarsson Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   6  (bases 1 to 6874)
  AUTHORS   Moore-Hoon ML and Turner RJ.
  TITLE     The structural unit of the secretory Na+-K+-2Cl- cotransporter
            (NKCC1) is a homodimer
  JOURNAL   Biochemistry 39 (13), 3718-3724 (2000)
   PUBMED   10736171
REFERENCE   7  (bases 1 to 6874)
  AUTHORS   Haas M and Forbush B 3rd.
  TITLE     The Na-K-Cl cotransporters
  JOURNAL   J Bioenerg Biomembr 30 (2), 161-172 (1998)
   PUBMED   9672238
  REMARK    Review article
REFERENCE   8  (bases 1 to 6874)
  AUTHORS   Gress TM, Muller-Pillasch F, Geng M, Zimmerhackl F, Zehetner G,
            Friess H, Buchler M, Adler G and Lehrach H.
  TITLE     A pancreatic cancer-specific expression profile
  JOURNAL   Oncogene 13 (8), 1819-1830 (1996)
   PUBMED   8895530
REFERENCE   9  (bases 1 to 6874)
  AUTHORS   Gillen CM, Brill S, Payne JA and Forbush B 3rd.
  TITLE     Molecular cloning and functional expression of the K-Cl
            cotransporter from rabbit, rat, and human. A new member of the
            cation-chloride cotransporter family
  JOURNAL   J Biol Chem 271 (27), 16237-16244 (1996)
   PUBMED   8663127
REFERENCE   10  (bases 1 to 6874)
  AUTHORS   Payne JA, Xu JC, Haas M, Lytle CY, Ward D and Forbush B 3rd.
  TITLE     Primary structure, functional expression, and chromosomal
            localization of the bumetanide-sensitive Na-K-Cl cotransporter in
            human colon
  JOURNAL   J Biol Chem 270 (30), 17977-17985 (1995)
   PUBMED   7629105
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY280459.1, SRR1660803.193764.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000262461.7/ ENSP00000262461.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011332.8, AY280459.1,
            U30246.1, BC033003.2, AK025062.1, AA425619.1, AA425438.1,
            AA843086.1, AV708692.2 and BM978607.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001046.2.
            Summary: The protein encoded by this gene mediates sodium and
            chloride transport and reabsorption. The encoded protein is a
            membrane protein and is important in maintaining proper ionic
            balance and cell volume. This protein is phosphorylated in response
            to DNA damage. Three transcript variants encoding two different
            isoforms have been found for this gene. [provided by RefSeq, Jan
            2012].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6874
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.3"
     gene            1..6874
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="solute carrier family 12 member 2"
                     /db_xref="GeneID:6558"
                     /db_xref="HGNC:HGNC:10911"
                     /db_xref="MIM:600840"
     CDS             190..3828
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="isoform 1 is encoded by transcript variant 1;
                     bumetanide-sensitive sodium-(potassium)-chloride
                     cotransporter 1; basolateral Na-K-Cl symporter; solute
                     carrier family 12 (sodium/potassium/chloride transporters),
                     member 2; protein phosphatase 1, regulatory subunit 141;
                     solute carrier family 12 (sodium/potassium/chloride
                     transporter), member 2; bumetanide-sensitive
                     sodium-(potassium)-chloride cotransporter 2;
                     bumetanide-sensitive cotransporter type 2"
                     /codon_start=1
                     /product="solute carrier family 12 member 2 isoform 1"
                     /protein_id="NP_001037.1"
                     /db_xref="CCDS:CCDS4144.1"
                     /db_xref="GeneID:6558"
                     /db_xref="HGNC:HGNC:10911"
                     /db_xref="MIM:600840"
                     /translation="MEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPED
                     AAPASRDGGGVRDEGPAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAA
                     AAAGAGAGAKQTPADGEASGESEPAKGSEEAKGRFRVNFVDPAASSSAEDSLSDAAGVG
                     VDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVP
                     RIDHYRHTAAQLGEKLLRPSLAELHDELEKEPFEDGFANGEESTPTRDAVVTYTAESKG
                     VVKFGWIKGVLVRCMLNIWGVMLFIRLSWIVGQAGIGLSVLVIMMATVVTTITGLSTSA
                     IATNGFVRGGGAYYLISRSLGPEFGGAIGLIFAFANAVAVAMYVVGFAETVVELLKEHS
                     ILMIDEINDIRIIGAITVVILLGISVAGMEWEAKAQIVLLVILLLAIGDFVIGTFIPLE
                     SKKPKGFFGYKSEIFNENFGPDFREEETFFSVFAIFFPAATGILAGANISGDLADPQSA
                     IPKGTLLAILITTLVYVGIAVSVGSCVVRDATGNVNDTIVTELTNCTSAACKLNFDFSS
                     CESSPCSYGLMNNFQVMSMVSGFTPLISAGIFSATLSSALASLVSAPKIFQALCKDNIY
                     PAFQMFAKGYGKNNEPLRGYILTFLIALGFILIAELNVIAPIISNFFLASYALINFSVF
                     HASLAKSPGWRPAFKYYNMWISLLGAILCCIVMFVINWWAALLTYVIVLGLYIYVTYKK
                     PDVNWGSSTQALTYLNALQHSIRLSGVEDHVKNFRPQCLVMTGAPNSRPALLHLVHDFT
                     KNVGLMICGHVHMGPRRQAMKEMSIDQAKYQRWLIKNKMKAFYAPVHADDLREGAQYLM
                     QAAGLGRMKPNTLVLGFKKDWLQADMRDVDMYINLFHDAFDIQYGVVVIRLKEGLDISH
                     LQGQEELLSSQEKSPGTKDVVVSVEYSKKSDLDTSKPLSEKPITHKVEEEDGKTATQPL
                     LKKESKGPIVPLNVADQKLLEASTQFQKKQGKNTIDVWWLFDDGGLTLLIPYLLTTKKK
                     WKDCKIRVFIGGKINRIDHDRRAMATLLSKFRIDFSDIMVLGDINTKPKKENIIAFEEI
                     IEPYRLHEDDKEQDIADKMKEDEPWRITDNELELYKTKTYRQIRLNELLKEHSSTANII
                     VMSLPVARKGAVSSALYMAWLEALSKDLPPILLVRGNHQSVLTFYS"
     misc_feature    190..192
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22223895; propagated from
                     UniProtKB/Swiss-Prot (P55011.1); acetylation site"
     misc_feature    295..432
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    418..420
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P55011.1); phosphorylation site"
     misc_feature    424..426
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P55011.1); phosphorylation site"
     misc_feature    427..438
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     Region: RFXV motif 1.
                     /evidence=ECO:0000269|PubMed:16669787"
     misc_feature    523..603
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    601..612
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     Region: RFXV motif 2.
                     /evidence=ECO:0000269|PubMed:16669787"
     misc_feature    637..768
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    796..798
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="Phosphothreonine, by OXSR1 and STK39.
                     /evidence=ECO:0000269|PubMed:16669787; propagated from
                     UniProtKB/Swiss-Prot (P55011.1); phosphorylation site"
     misc_feature    808..810
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="Phosphothreonine, by OXSR1 and STK39.
                     /evidence=ECO:0000269|PubMed:16669787; propagated from
                     UniProtKB/Swiss-Prot (P55011.1); phosphorylation site"
     misc_feature    823..825
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="Phosphothreonine, by OXSR1 and STK39.
                     /evidence=ECO:0000269|PubMed:12145305,
                     ECO:0000269|PubMed:16669787; propagated from
                     UniProtKB/Swiss-Prot (P55011.1); phosphorylation site"
     misc_feature    838..840
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:12145305,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P55011.1); phosphorylation site"
     misc_feature    877..879
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P55016; propagated from
                     UniProtKB/Swiss-Prot (P55011.1); phosphorylation site"
     misc_feature    913..915
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P55016; propagated from
                     UniProtKB/Swiss-Prot (P55011.1); phosphorylation site"
     misc_feature    985..987
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P55012; propagated from
                     UniProtKB/Swiss-Prot (P55011.1); phosphorylation site"
     misc_feature    1048..1128
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     transmembrane region"
     misc_feature    1153..1218
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     transmembrane region"
     misc_feature    1273..1380
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     transmembrane region"
     misc_feature    1408..1461
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     transmembrane region"
     misc_feature    1477..1551
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     transmembrane region"
     misc_feature    1648..1710
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     transmembrane region"
     misc_feature    1732..1815
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     transmembrane region"
     misc_feature    1987..2085
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     transmembrane region"
     misc_feature    2149..2193
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     transmembrane region"
     misc_feature    2200..2280
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     transmembrane region"
     misc_feature    2323..2379
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     transmembrane region"
     misc_feature    2383..2442
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     transmembrane region"
     misc_feature    3007..3009
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P55011.1); phosphorylation site"
     misc_feature    3019..3021
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P55012; propagated from
                     UniProtKB/Swiss-Prot (P55011.1); phosphorylation site"
     misc_feature    3073..3156
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="propagated from UniProtKB/Swiss-Prot (P55011.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3169..3171
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P55011.1); phosphorylation site"
     regulatory      4201..4206
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="hexamer: TATAAA"
     polyA_site      4222
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="major polyA site"
     regulatory      6847..6852
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="hexamer: AATAAA"
     polyA_site      6874
                     /gene="SLC12A2"
                     /gene_synonym="BSC; BSC-2; BSC2; CCC1; KILQS; NKCC1;
                     PPP1R141"
                     /note="major polyA site"
ORIGIN
        1 acactcgcgc gctcgctcgg ctgccggtgg cctctgtggc cgtccaggct agcggcggcc
       61 cgcaggcggc ggggagaaag actctctcac ctggtcttgc ggctgtggcc accgccggcc
      121 aggggtgtgg agggcgtgct gccggagacg tccgccgggc tctgcagttc cgccgggggt
      181 cgggcagcta tggagccgcg gcccacggcg ccctcctccg gcgccccggg actggccggg
      241 gtcggggaga cgccgtcagc cgctgcgctg gccgcagcca gggtggaact gcccggcacg
      301 gctgtgccct cggtgccgga ggatgctgcg cccgcgagcc gggacggcgg cggggtccgc
      361 gatgagggcc ccgcggcggc cggggacggg ctgggcagac ccttggggcc caccccgagc
      421 cagagccgtt tccaggtgga cctggtttcc gagaacgccg ggcgggccgc tgctgcggcg
      481 gcggcggcgg cggcggcagc ggcggcggct ggtgctgggg cgggggccaa gcagaccccc
      541 gcggacgggg aagccagcgg cgagagcgag ccggctaaag gcagcgagga agccaagggc
      601 cgcttccgcg tgaacttcgt ggacccagct gcctcctcgt cggctgaaga cagcctgtca
      661 gatgctgccg gggtcggagt cgacgggccc aacgtgagct tccagaacgg cggggacacg
      721 gtgctgagcg agggcagcag cctgcactcc ggcggcggcg gcggcagtgg gcaccaccag
      781 cactactatt atgataccca caccaacacc tactacctgc gcaccttcgg ccacaacacc
      841 atggacgctg tgcccaggat cgatcactac cggcacacag ccgcgcagct gggcgagaag
      901 ctgctccggc ctagcctggc ggagctccac gacgagctgg aaaaggaacc ttttgaggat
      961 ggctttgcaa atggggaaga aagtactcca accagagatg ctgtggtcac gtatactgca
     1021 gaaagtaaag gagtcgtgaa gtttggctgg atcaagggtg tattagtacg ttgtatgtta
     1081 aacatttggg gtgtgatgct tttcattaga ttgtcatgga ttgtgggtca agctggaata
     1141 ggtctatcag tccttgtaat aatgatggcc actgttgtga caactatcac aggattgtct
     1201 acttcagcaa tagcaactaa tggatttgta agaggaggag gagcatatta tttaatatct
     1261 agaagtctag ggccagaatt tggtggtgca attggtctaa tcttcgcctt tgccaacgct
     1321 gttgcagttg ctatgtatgt ggttggattt gcagaaaccg tggtggagtt gcttaaggaa
     1381 cattccatac ttatgataga tgaaatcaat gatatccgaa ttattggagc cattacagtc
     1441 gtgattcttt taggtatctc agtagctgga atggagtggg aagcaaaagc tcagattgtt
     1501 cttttggtga tcctacttct tgctattggt gatttcgtca taggaacatt tatcccactg
     1561 gagagcaaga agccaaaagg gttttttggt tataaatctg aaatatttaa tgagaacttt
     1621 gggcccgatt ttcgagagga agagactttc ttttctgtat ttgccatctt ttttcctgct
     1681 gcaactggta ttctggctgg agcaaatatc tcaggtgatc ttgcagatcc tcagtcagcc
     1741 atacccaaag gaacactcct agccatttta attactacat tggtttacgt aggaattgca
     1801 gtatctgtag gttcttgtgt tgttcgagat gccactggaa acgttaatga cactatcgta
     1861 acagagctaa caaactgtac ttctgcagcc tgcaaattaa actttgattt ttcatcttgt
     1921 gaaagcagtc cttgttccta tggcctaatg aacaacttcc aggtaatgag tatggtgtca
     1981 ggatttacac cactaatttc tgcaggtata ttttcagcca ctctttcttc agcattagca
     2041 tccctagtga gtgctcccaa aatatttcag gctctatgta aggacaacat ctacccagct
     2101 ttccagatgt ttgctaaagg ttatgggaaa aataatgaac ctcttcgtgg ctacatctta
     2161 acattcttaa ttgcacttgg attcatctta attgctgaac tgaatgttat tgcaccaatt
     2221 atctcaaact tcttccttgc atcatatgca ttgatcaatt tttcagtatt ccatgcatca
     2281 cttgcaaaat ctccaggatg gcgtcctgca ttcaaatact acaacatgtg gatatcactt
     2341 cttggagcaa ttctttgttg catagtaatg ttcgtcatta actggtgggc tgcattgcta
     2401 acatatgtga tagtccttgg gctgtatatt tatgttacct acaaaaaacc agatgtgaat
     2461 tggggatcct ctacacaagc cctgacttac ctgaatgcac tgcagcattc aattcgtctt
     2521 tctggagtgg aagaccacgt gaaaaacttt aggccacagt gtcttgttat gacaggtgct
     2581 ccaaactcac gtccagcttt acttcatctt gttcatgatt tcacaaaaaa tgttggtttg
     2641 atgatctgtg gccatgtaca tatgggtcct cgaagacaag ccatgaaaga gatgtccatc
     2701 gatcaagcca aatatcagcg atggcttatt aagaacaaaa tgaaggcatt ttatgctcca
     2761 gtacatgcag atgacttgag agaaggtgca cagtatttga tgcaggctgc tggtcttggt
     2821 cgtatgaagc caaacacact tgtccttgga tttaagaaag attggttgca agcagatatg
     2881 agggatgtgg atatgtatat aaacttattt catgatgctt ttgacataca atatggagta
     2941 gtggttattc gcctaaaaga aggtctggat atatctcatc ttcaaggaca agaagaatta
     3001 ttgtcatcac aagagaaatc tcctggcacc aaggatgtgg tagtaagtgt ggaatatagt
     3061 aaaaagtccg atttagatac ttccaaacca ctcagtgaaa aaccaattac acacaaagtt
     3121 gaggaagagg atggcaagac tgcaactcaa ccactgttga aaaaagaatc caaaggccct
     3181 attgtgcctt taaatgtagc tgaccaaaag cttcttgaag ctagtacaca gtttcagaaa
     3241 aaacaaggaa agaatactat tgatgtctgg tggctttttg atgatggagg tttgacctta
     3301 ttgatacctt accttctgac gaccaagaaa aaatggaaag actgtaagat cagagtattc
     3361 attggtggaa agataaacag aatagaccat gaccggagag cgatggctac tttgcttagc
     3421 aagttccgga tagacttttc tgatatcatg gttctaggag atatcaatac caaaccaaag
     3481 aaagaaaata ttatagcttt tgaggaaatc attgagccat acagacttca tgaagatgat
     3541 aaagagcaag atattgcaga taaaatgaaa gaagatgaac catggcgaat aacagataat
     3601 gagcttgaac tttataagac caagacatac cggcagatca ggttaaatga gttattaaag
     3661 gaacattcaa gcacagctaa tattattgtc atgagtctcc cagttgcacg aaaaggtgct
     3721 gtgtctagtg ctctctacat ggcatggtta gaagctctat ctaaggacct accaccaatc
     3781 ctcctagttc gtgggaatca tcagagtgtc cttaccttct attcataaat gttctataca
     3841 gtggacagcc ctccagaatg gtacttcagt gcctagtgta gtaactgaaa tcttcaatga
     3901 cacattaaca tcacaatggc gaatggtgac ttttctttca cgatttcatt aatttgaaag
     3961 cacacaggaa agttgctcca ttgataacgt gtatggagac ttcggtttta gtcaattcca
     4021 tatctcaatc ttaatggtga ttcttctctg ttgaactgaa gtttgtgaga gtagttttcc
     4081 tttgctactt gaatagcaat aaaagcgtgt taactttttg attgatgaaa gaagtacaaa
     4141 aagcctttag ccttgaggtg ccttctgaaa ttaaccaaat ttcatccata tatcctcttt
     4201 tataaactta tagaatgtca aactttgcct tcaactgttt ttatttctag tctcttccac
     4261 tttaaaacaa aatgaacact gcttgtcttc ttccattgac catttagtgt tgagtactgt
     4321 atgtgttttg ttaattctat aaaggtatct gttagatatt aaaggtgaga attagggcag
     4381 gttaatcaaa aatggggaag gggaaatggt aaccaaaaag taaccccatg gtaaggttta
     4441 tatgagtata tgtgaatata gagctaggaa aaaaagcccc cccaaatacc tttttaaccc
     4501 ctctgattgg ctattattac tatatttatt attatttatt gaaaccttag ggaagattga
     4561 agattcatcc catacttcta tataccatgc ttaaaaatca cgtcattctt taaacaaaaa
     4621 tactcaagat catttatatt tatttggaga gaaaactgtc ctaatttaga atttccctca
     4681 aatctgaggg acttttaaga aatgctaaca gatttttctg gaggaaattt agacaaaaca
     4741 atgtcattta gtagaatatt tcagtattta agtggaattt cagtatactg tactatcctt
     4801 tataagtcat taaaataatg tttcatcaaa tggttaaatg gaccactggt ttcttagaga
     4861 aatgttttta ggcttaattc attcaattgt caagtacact tagtcttaat acactcaggt
     4921 ttgaacagat tattctgaat attaaaattt aatccattct taatatttta aaacttttgt
     4981 taagaaaaac tgccagtttg tgcttttgaa atgtctgttt tgacatcata gtctagtaaa
     5041 attttgacag tgcatatgta ctgttactaa aagctttata tgaaattatt aatgtgaagt
     5101 ttttcattta taattcaagg aaggatttcc tgaaaacatt tcaagggatt tatgtctaca
     5161 tatttgtgtg tgtgtgtgta tatatatgta atatgcatac acagatgcat atgtgtatat
     5221 ataatgaaat ttatgttgct ggtattttgc attttaaagt gatcaagatt cattaggcaa
     5281 actttggttt aagtaaacat atgttcaaaa tcagattaac agatacaggt ttcatagaga
     5341 acaaaggtga tcatttgaag ggcatgctgt aatttcacac aattttccag ttcaaaaatg
     5401 gagaatactt cgcctaaaat actgttaagt gggttaattg atacaagttt ctgtggtgga
     5461 aaatttatgc aggttttcac gaatcctttt tttttttttt tttttttttt gagacggagt
     5521 cttgctctgt tgccacgctg gaatgcagta acgtgatctt ggctcactgc gacctccacc
     5581 tccccagttc aagcgattct cctgcctcag cctccctagt agctgggact acgggtgcac
     5641 gccaccatgc ccagctaatt tttgtatttt gagtagagac agggtttcac cgtgttggct
     5701 aggatggtgt ctatctcttg accttgtgat ccacccgcct cagcctccca gagtgctggg
     5761 attacaggtg cgagccactg cgcctggctg gttttcatga atcttgatag acatctataa
     5821 cgttattatt ttcagtggtg tgcagcattt ttgcttcatg agtatgacct aggtatagag
     5881 atctgataac ttgaattcag aatattaaga aaatgaagta actgattttc taaaaaaaaa
     5941 aaaaaaaaaa atttctacat tataactcac agcattgttc cattgcaggt tttgcaatgt
     6001 ttgggggtaa agacagtaga aatattattc agtaaacaat aatgtgtgaa cttttaagat
     6061 ggataatagg gcatggactg agtgctgcta tcttgaaatg tgcacaggta cacttacctt
     6121 tttttttttt ttttttaagt ttttcccatt caggaaaaca acattgtgat ctgtactaca
     6181 ggaaccaaat gtcatgcgtc atacatgtgg gtataaagta cataaaatat atctaactat
     6241 tcataatgtg gggtgggtaa tactgtctgt gaaataatgt aagaagcttt tcacttaaaa
     6301 aaaatgcatt actttcactt aacactagac accaggtcga aaattttcaa ggttatagta
     6361 cttatttcaa caattcttag agatgctagc tagtgttgaa gctaaaaata gctttattta
     6421 tgctgaattg tgattttttt atgccaaatt ttttttagtt ctaatcattg atgatagctt
     6481 ggaaataaat aattatgcca tggcatttga cagttcatta ttcctataag aattaaattg
     6541 agtttagaga gaatggtggt gttgagctga ttattaacag ttactgaaat caaatattta
     6601 tttgttacat tattccattt gtattttagg tttcctttta cattcttttt atatgcattc
     6661 tgacattaca tattttttaa gactatggaa ataatttaaa gatttaagct ctggtggatg
     6721 attatctgct aagtaagtct gaaaatgtaa tattttgata atactgtaat atacctgtca
     6781 cacaaatgct tttctaatgt tttaaccttg agtattgcag ttgctgcttt gtacagaggt
     6841 tactgcaata aaggaagtgg attcattaaa ccta
//
LOCUS       NM_001047               7035 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens steroid 5 alpha-reductase 1 (SRD5A1), transcript
            variant 1, mRNA.
ACCESSION   NM_001047
VERSION     NM_001047.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7035)
  AUTHORS   Bar-Sadeh B, Amichai OE, Pnueli L, Begum K, Leeman G, Emes RD,
            Stoger R, Bentley GR and Melamed P.
  TITLE     Epigenetic regulation of 5alpha reductase-1 underlies adaptive
            plasticity of reproductive function and pubertal timing
  JOURNAL   BMC Biol 20 (1), 11 (2022)
   PUBMED   34996447
  REMARK    GeneRIF: Epigenetic regulation of 5alpha reductase-1 underlies
            adaptive plasticity of reproductive function and pubertal timing.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 7035)
  AUTHORS   Csikos E, Horvath A, Acs K, Papp N, Balazs VL, Dolenc MS, Kenda M,
            Kocevar Glavac N, Nagy M, Protti M, Mercolini L, Horvath G, Farkas A
            and On Behalf Of The Oemonom.
  TITLE     Treatment of Benign Prostatic Hyperplasia by Natural Drugs
  JOURNAL   Molecules 26 (23), 7141 (2021)
   PUBMED   34885733
  REMARK    GeneRIF: Treatment of Benign Prostatic Hyperplasia by Natural Drugs.
            Review article Publication Status: Online-Only
REFERENCE   3  (bases 1 to 7035)
  AUTHORS   Suminska M, Podgorski R, Fichna P and Fichna M.
  TITLE     Steroid Metabolism in Children and Adolescents With Obesity and
            Insulin Resistance: Altered SRD5A and 20alpha/20betaHSD Activity
  JOURNAL   Front Endocrinol (Lausanne) 12, 759971 (2021)
   PUBMED   34764940
  REMARK    GeneRIF: Steroid Metabolism in Children and Adolescents With Obesity
            and Insulin Resistance: Altered SRD5A and 20alpha/20betaHSD
            Activity. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 7035)
  AUTHORS   Dou R, Qian J, Wu W, Zhang Y, Yuan Y, Guo M, Wei R, Yang S,
            Jurczyszyn A, Janz S, Beksac M, Gu C and Yang Y.
  TITLE     Suppression of steroid 5alpha-reductase type I promotes cellular
            apoptosis and autophagy via PI3K/Akt/mTOR pathway in multiple
            myeloma
  JOURNAL   Cell Death Dis 12 (2), 206 (2021)
   PUBMED   33627630
  REMARK    GeneRIF: Suppression of steroid 5alpha-reductase type I promotes
            cellular apoptosis and autophagy via PI3K/Akt/mTOR pathway in
            multiple myeloma. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 7035)
  AUTHORS   Peng HM, Valentin-Goyco J, Im SC, Han B, Liu J, Qiao J and Auchus
            RJ.
  TITLE     Expression in Escherichia Coli, Purification, and Functional
            Reconstitution of Human Steroid 5alpha-Reductases
  JOURNAL   Endocrinology 161 (8) (2020)
   PUBMED   32716491
  REMARK    GeneRIF: Expression in Escherichia Coli, Purification, and
            Functional Reconstitution of Human Steroid 5alpha-Reductases.
REFERENCE   6  (bases 1 to 7035)
  AUTHORS   Jenkins EP, Andersson S, Imperato-McGinley J, Wilson JD and Russell
            DW.
  TITLE     Genetic and pharmacological evidence for more than one human steroid
            5 alpha-reductase
  JOURNAL   J Clin Invest 89 (1), 293-300 (1992)
   PUBMED   1345916
REFERENCE   7  (bases 1 to 7035)
  AUTHORS   Jenkins EP, Hsieh CL, Milatovich A, Normington K, Berman DM, Francke
            U and Russell DW.
  TITLE     Characterization and chromosomal mapping of a human steroid 5
            alpha-reductase gene and pseudogene and mapping of the mouse
            homologue
  JOURNAL   Genomics 11 (4), 1102-1112 (1991)
   PUBMED   1686016
REFERENCE   8  (bases 1 to 7035)
  AUTHORS   Andersson S and Russell DW.
  TITLE     Structural and biochemical properties of cloned and expressed human
            and rat steroid 5 alpha-reductases
  JOURNAL   Proc Natl Acad Sci U S A 87 (10), 3640-3644 (1990)
   PUBMED   2339109
REFERENCE   9  (bases 1 to 7035)
  AUTHORS   Milewich,L., Kaimal,V. and Toews,G.B.
  TITLE     Androstenedione metabolism in human alveolar macrophages
  JOURNAL   J Clin Endocrinol Metab 56 (5), 920-924 (1983)
   PUBMED   6833469
REFERENCE   10  (bases 1 to 7035)
  AUTHORS   Moore,R.J. and Wilson,J.D.
  TITLE     Localization of the reduced nicotinamide adenine dinucleotide
            phosphate: 4 -3-ketosteroid 5 -oxidoreductase in the nuclear
            membrane of the rat ventral prostate
  JOURNAL   J Biol Chem 247 (3), 958-967 (1972)
   PUBMED   4400474
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC007033.1, SRR1660805.143522.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000274192.7/ ENSP00000274192.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA170063.1, BC007033.1, M32313.1, AF052126.1 and AC010366.6.
            On Nov 22, 2018 this sequence version replaced NM_001047.3.
            Summary: Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the
            conversion of testosterone into the more potent androgen,
            dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied
            by OMIM, Mar 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7035
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.31"
     gene            1..7035
                     /gene="SRD5A1"
                     /gene_synonym="S5AR 1"
                     /note="steroid 5 alpha-reductase 1"
                     /db_xref="GeneID:6715"
                     /db_xref="HGNC:HGNC:11284"
                     /db_xref="MIM:184753"
     misc_feature    51..53
                     /gene="SRD5A1"
                     /gene_synonym="S5AR 1"
                     /note="upstream in-frame stop codon"
     CDS             138..917
                     /gene="SRD5A1"
                     /gene_synonym="S5AR 1"
                     /EC_number="1.3.1.22"
                     /note="isoform 1 is encoded by transcript variant 1;
                     steroid 5-alpha-reductase type I; SR type 1;
                     steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5
                     alpha-steroid delta 4-dehydrogenase alpha 1)"
                     /codon_start=1
                     /product="3-oxo-5-alpha-steroid 4-dehydrogenase 1 isoform
                     1"
                     /protein_id="NP_001038.1"
                     /db_xref="CCDS:CCDS3870.1"
                     /db_xref="GeneID:6715"
                     /db_xref="HGNC:HGNC:11284"
                     /db_xref="MIM:184753"
                     /translation="MATATGVAEERLLAALAYLQCAVGCAVFARNRQTNSVYGRHALPS
                     HRLRVPARAAWVVQELPSLALPLYQYASESAPRLRSAPNCILLAMFLVHYGHRCLIYPF
                     LMRGGKPMPLLACTMAIMFCTCNGYLQSRYLSHCAVYADDWVTDPRFLIGFGLWLTGML
                     INIHSDHILRNLRKPGDTGYKIPRGGLFEYVTAANYFGEIMEWCGYALASWSVQGAAFA
                     FFTFCFLSGRAKEHHEWYLRKFEEYPKFRKIIIPFLF"
     misc_feature    171..224
                     /gene="SRD5A1"
                     /gene_synonym="S5AR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P18405.1);
                     transmembrane region"
     misc_feature    393..455
                     /gene="SRD5A1"
                     /gene_synonym="S5AR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P18405.1);
                     transmembrane region"
     misc_feature    468..530
                     /gene="SRD5A1"
                     /gene_synonym="S5AR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P18405.1);
                     transmembrane region"
     misc_feature    588..650
                     /gene="SRD5A1"
                     /gene_synonym="S5AR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P18405.1);
                     transmembrane region"
     misc_feature    762..824
                     /gene="SRD5A1"
                     /gene_synonym="S5AR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (P18405.1);
                     transmembrane region"
     regulatory      2030..2035
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRD5A1"
                     /gene_synonym="S5AR 1"
                     /note="hexamer: AATAAT"
     polyA_site      2047
                     /gene="SRD5A1"
                     /gene_synonym="S5AR 1"
     regulatory      2193..2198
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRD5A1"
                     /gene_synonym="S5AR 1"
                     /note="hexamer: AATAGA"
     polyA_site      2211
                     /gene="SRD5A1"
                     /gene_synonym="S5AR 1"
                     /note="major polyA site"
     regulatory      7010..7015
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRD5A1"
                     /gene_synonym="S5AR 1"
                     /note="hexamer: ATTAAA"
     polyA_site      7035
                     /gene="SRD5A1"
                     /gene_synonym="S5AR 1"
ORIGIN
        1 cctttctgca gagtcccggc agtgcgggac tccggtagcc gcccctccgg tagccgcccc
       61 tcctgccccc gcgccgccgc cctatatgtt gcccgccgcg gcctctgggg catggagcac
      121 gctgcccagc cctggcgatg gcaacggcga cgggggtggc ggaggagcgc ctgctggccg
      181 cgctcgccta cctgcagtgc gccgtgggct gcgcggtctt cgcgcgcaat cgtcagacga
      241 actcagtgta cggccgccac gcgctgccca gccacaggct ccgagtgccg gcgcgggccg
      301 cctgggtggt gcaggagctg ccctcgctgg ccctgccgct ctaccagtac gccagcgagt
      361 ccgccccgcg tctccgcagc gcgcccaact gcatcctcct ggccatgttc ctcgtccact
      421 acgggcatcg gtgcttaatt tacccatttc tgatgcgagg aggaaagcct atgccactgt
      481 tggcgtgtac aatggcgatt atgttctgta cctgtaacgg ctatttgcaa agcagatact
      541 tgagccattg tgcagtgtat gctgatgact gggtaacaga tccccgtttt ctaataggtt
      601 ttggcttgtg gttaacgggc atgttgataa acatccattc agatcatatc ctaaggaatc
      661 tcagaaaacc aggagatact ggatacaaaa taccaagggg aggcttattt gaatacgtaa
      721 ctgcagccaa ctattttgga gaaatcatgg agtggtgtgg ctatgccctg gccagctggt
      781 ctgtccaagg cgcggctttt gctttcttca cgttttgttt tttatctggt agagcaaaag
      841 agcatcatga gtggtacctc cggaaatttg aagagtatcc aaagttcaga aaaattataa
      901 ttccattttt gttttaagtg cgtttttcat gaaattatct tcaacttgaa gctttccaat
      961 ggcgcttctc tatggacttt gtaaataagt tatatctttg taattttcct gctactttat
     1021 cattttcaag atgtcctcta ggaatttttt ttctagtaat tttgcaatct acctaataag
     1081 tacctaaata cgctgaaatg gaggttgaat atcctactgt gtaacaggtc agaatttcaa
     1141 gctctgggta ataactgctg atattttttc taatttcaaa tttacctctt ttggctatgt
     1201 cttgccaagt gtgtatgaga ctagacttta caactgtctt tgatggcatt ttcagaacaa
     1261 taaatgtcac aatcccttct atagccccct acagtgatct cttcaaggtc aactgcagtg
     1321 ttgcttccct ccccctatag ggctggaatc tgtctaggag ccctctctcg gaggccacag
     1381 aggctggggg tagccattgt gcagtcatgg cccgggggaa acttgccaac cttcgtgtca
     1441 ggtgctgtgt gtaagtggag aacttgggga tagaggagga agctcctcgt ggcccttcca
     1501 aggtgaggca aaggcatctg gacttgttcc agcccagccc accgggtgac atcaccgggc
     1561 agggaggggt gctggtggtg gttcatacgg agtaagctgc tctgcctgtg tgagtggctc
     1621 ctgggcccta aacaggcacc tttaggccat gggtcactca ccgtgagcca tcaatgtgct
     1681 ctggtctgac atggtttctc tctgtcttct agtctagacc tagttttttt gttctgttcc
     1741 ccacgtatgg atatagtaga gattgttgtc tgtgaaattt ctcttttgta gattttgagt
     1801 tttcccttgt agtgtaaaga atgatcactt tctgtaacaa taacaagacc actttttaag
     1861 atttatcctg tttgttcttt gttgattgaa acataataat tgttaaaatt ctctacagcc
     1921 ttctttttct tccatagcta atcttccttc taatagtttt tgctttctgt tttgctgttg
     1981 ttgctttgca aagctttccc ctcatagcct gtacctgtta tcaatataaa ataatcttcc
     2041 tgttgaatgc ttcatgactt gaattctact ttgataaaaa cattgccata ctgcttttta
     2101 tcttgatgaa ttcatctggc attgctttgc cttatcatct catctggagt ttttaaatgc
     2161 catttgtttc agttgtcttt aacaacataa taaatagact ttgccattta acaaggtagc
     2221 tcaaattctt ttactaattg ttacatcgaa acattctttc atcatatttc ctgtttttat
     2281 ttggtttttt caacttcttc tgtttactat ctacagtgat ttggaaagga gatttccttt
     2341 aaaacaaaca agcttattgg gaatggcttt tatgattttt aaagtagcct tgagagcttc
     2401 cagttaaatc tgatgagctg aacatacacc tttccttctc ccctctctat tctgacccca
     2461 gttgaaatca cctcaaagga atttaggtgg gggagtggcc ccataaagag agtgagagag
     2521 agtcaccact gcagatggac cacagcacgg gtggagatgg gcctgatgtg gcagagcaga
     2581 gaggccatga cagtgcacac cctgcggaga ccctgggtcc tcacatctgg gctgacagaa
     2641 ggcagaggga aatgagcatc tcaaagtgag accaactaaa catggcgcct gcagcagaaa
     2701 gcagtgtcct ctgcaccccc actctccagg gagagcacag agagcccaga aatgagccat
     2761 gtgcccattg ccggggaaga gaaggtaggc tgaggaggtg gcctttccta acacaaaaat
     2821 taactaagtg gggaaaacca gagaactagg tgttggcatc ccaggaaaaa aataaagtct
     2881 ccacattttg gcctataggg atcctgcccc ataatggctg gttacctcct gcctcaagct
     2941 gcagggaagc cagggggtgg catggccatg gcttctccct cagagaggcc tctgtgcacg
     3001 acttcagtca cccaacactg acagaacttg gaacccaaaa gcccatttct ctccttccgt
     3061 ccagaccctg tctgctgtta tctgtaggaa gaccacagcc aactgctatc atgaccaaag
     3121 ctaaaatcca atgaggcaga gaacaatagt tgtacccatc tcctccttag tctccaaggc
     3181 cagcggtgca tgcatttgtg cattcaacaa catttgccaa gcacttactg tatatcaagc
     3241 acagcagtgg gtgctgagga cggatgggta gaaaaaacag tcctggccca ggtggagtga
     3301 caggtaagaa acaagtaagt agctaaaata atgttaggta gaaaaaaata acaagaataa
     3361 aagcaaggaa aagggaaggg accctcactt gtgtctgata cagccataat cttctctatc
     3421 ggccattgct gtaaccaaag cttaaccacc tttcttaaga tattgatcaa ccagatcatt
     3481 gcaaatactg ctaattgatt cctttttatg gctgagtagt attccattgt atatatatat
     3541 ataccacttg ttgactgatg ggcatttggg ttggttccac gattttgcag ttgtgaattg
     3601 tgctgctata aacatgtgcg tgcaagtatc tttttttgaa taatgacttc ttttcctctg
     3661 ggtagatacc cagtaatggg attgctggat caaatggtag ttctactttt agttctaagg
     3721 aatttccaca ctgttttcca tggtggctct aatagtttac attcccacca gcagtgtgga
     3781 agtgttccat gattgccgca tgcatgccaa catctactgt tttttgattt ttttggttat
     3841 ggccgttctt gcaggagtaa gggggtatcg cactgtagtt tttatttgca tttccctgat
     3901 cattagtgat gttgagcatt ttttcatact ttgttggcca tttgtatatc ttcttttgag
     3961 aattgtctat tcatgtcctt aacccacttt ttgatgggat tgtttgtttt tttcttactg
     4021 atttgtttga gtttgttgta gattctggat attagtcctt tgtctgatgt atagattgtg
     4081 aagattttct cccactctgt gcgttgtctg tttactctgc tgactgttgc ttttaccatg
     4141 caaaagctct ttagtttaat taagtcccat ctatttatct ttgtttttat tgttggaaac
     4201 tattattcta agttaagtaa ctcaggaatg gaaaaccaaa caacctatgt tctcattgat
     4261 atgtgggagc taagctatga ggacacaaag gcataagaat ggtacaatgg actttgggga
     4321 cttgggggga agggtaaggg ggggtgagga ataaaagaca acatatatgg tatagtatat
     4381 actactcagg agatgggtgc accaggatct cacaaatcac cactaaagaa tttactcatg
     4441 taaccaaata ccacctgtac ccccaataac ttatgggaaa aaaagatatt catcgaccta
     4501 ttccaggtcc tctctccacc actgagcctc gtggggacat aaagagctgc ctgccctccc
     4561 ctgttcccct tgcctttttg cagcaggatt cctgaaaatg ttgacttaca gatacgtttt
     4621 tgagatatga acgtttgtta tttcctggtg cttagggaag aaaataattg atgttgtgag
     4681 ttgggcggga ctttagggac tatgctgaac aatccactga ccactgcagg ctcccattta
     4741 tgatcttggg ccaacagcca ccagcctctg ttcatgcagt ctcactgagg gcagttactt
     4801 ctttggagtg gcatgcctct gagcagataa ttccaataat caatgtcaaa ctagatattg
     4861 aaacagccca agtgtcctgg taaagctagc tgttgatact cctgactgtt gcattatttt
     4921 gttttttgtt ttgttttgtt ttgagacgga gtcttgctct gtcacccagg ctggagtgca
     4981 atggtgcgat cttggctcac tgcaagctgt gcctcccggg ttcaaacaat tcttctgcct
     5041 cagcctcccg agtagctggg attacaggtg catgccacca tgcccagcta attttgtatt
     5101 tttagtagag acagggtttc accatgttgt ccaggctggt cttgaactcc tgacctcaag
     5161 tgatccaccc accttggcct cccaaggtgc tgggattaca ggcacaagcc acagctcccg
     5221 gcccaactgt tgcattatta tttgcaaatg ttggctatcc ctgctgttgt ctatatatca
     5281 attttgtcta cccaacacag ctgtaaactt ctcaaggtga ggagtgagcc atcactcttt
     5341 gcacctcttg ctgtgattga catggtatac cttaagatat atgttaattc ctatgtctta
     5401 ataaatattg gcttatggag aatttgttgg agcaagtaca gaccctatgt ttaacttctt
     5461 ttattcaaca gaattaaaaa actagctagt tctctcaata aaataatact ttcttttctt
     5521 tcttaaaatc tagctgatct ggtctaaaat acacatgtgg gaggcgggat tgtagaaata
     5581 tctcaaatta attagcgtct agctctttgt aaggtaattg acagtctgag ttagttgctt
     5641 cccccactgc aaagcagcaa aatctgctct caaaggcttc acgtagccgg gaaaactccg
     5701 ttcccaattc agatcctctg gggagggcat caattatttc ctattgtttt tagcaccgat
     5761 tgttctgtct aatttgaaag gatccaaaaa aggaaatgat acttggcatt agtatcattc
     5821 tccatcactc ttgaaagata tatgaaggga atgttggcgc aatcagtcta gaaacatatt
     5881 tctcccataa caataagcca gttctttttg ctttgaatca gaaatagctc catcaggccc
     5941 atgaaggaaa gggaaacaaa actgagtgcc aagcatatga taacatgctc agcatcatat
     6001 gacattaggg gattgcaaat tgaaacaaca gtaccaccac acacctatca gaatggccaa
     6061 aatccagaag actgacatca ccaatgctag tgagaatgtg gagcaacagg aactctcatt
     6121 cacggctggt ggggatgcaa agtggtggag ccacttggga agacagtctg gcagattcct
     6181 aaaaaggtaa acatactctt actaaacaat ctagtagatt tgctcctagg tgtttaccca
     6241 aaggagttga aaacatgtcc acacagaaaa cctgcacatg aatgtttata gcagctttac
     6301 tcaaaattgc caaaaattgg aagcaaccaa gatgtccttc aataggtggg cggataaaga
     6361 aattgtatcc aattctattt ctatgaggaa aatctattca tacaatagaa tactagtgtc
     6421 agagattttt ttttaacaaa gagctatcaa gccatgaaaa gataaggaag aactttaatg
     6481 catattggta agtgaaaaaa gccagtttgc aaaggctaga tactatatga tcccaactgt
     6541 ataacattct gaaaaaggca caactatgga gacaataaaa agaacagagt tttggatgaa
     6601 gggagggatg aacaggcaga atacaaacaa attttagggc agtgaaacta ttattatgat
     6661 actttatgga tatagaatat tatgcatttt tcaaaacaca tagaatatac aacatgaaga
     6721 atgaatgcta atgtaaactc tggattttta ttaataatat tatttaatta aaatgattta
     6781 ttttacttat tttcattatt atctaaaatg ttatttaatt attaaattta gatgctactt
     6841 aatttttgct ttattattat tatgttaata tcatcaactg taactagtgt acaacactaa
     6901 tgcaagatgt taatagggga aatcgtgttg gagagagaga tatgtgagaa ctctgtactt
     6961 tcttttcaat gtttctgtaa acataaagct gctctaaaaa attaaatcta ttaaaaaaaa
     7021 aactgagtgg aaaaa
//
LOCUS       NM_001047160            3989 bp    mRNA    linear   PRI 12-JUL-2023
DEFINITION  Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript
            variant 1, mRNA.
ACCESSION   NM_001047160
VERSION     NM_001047160.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3989)
  AUTHORS   Luo,S., Hu,Y., Li,S., Wang,L. and Huang,Y.
  TITLE     Association between NET-1 Level in Placenta from Preeclampsia
            Pregnancies and Trophoblast Proliferation and Apoptosis: A
            Correlation Analysis
  JOURNAL   Altern Ther Health Med 29 (5), 353-357 (2023)
   PUBMED   37171948
  REMARK    GeneRIF: Association between NET-1 Level in Placenta from
            Preeclampsia Pregnancies and Trophoblast Proliferation and
            Apoptosis: A Correlation Analysis.
REFERENCE   2  (bases 1 to 3989)
  AUTHORS   Yang X, Li Y, Zhang Y and Liu J.
  TITLE     Circ_0000745 promotes acute lymphoblastic leukemia progression
            through mediating miR-494-3p/NET1 axis
  JOURNAL   Hematology 27 (1), 11-22 (2022)
   PUBMED   34957935
  REMARK    GeneRIF: Circ_0000745 promotes acute lymphoblastic leukemia
            progression through mediating miR-494-3p/NET1 axis.
REFERENCE   3  (bases 1 to 3989)
  AUTHORS   Robinson RA, Griffiths SC, van de Haar LL, Malinauskas T, van Battum
            EY, Zelina P, Schwab RA, Karia D, Malinauskaite L, Brignani S, van
            den Munkhof MH, Dudukcu O, De Ruiter AA, Van den Heuvel DMA, Bishop
            B, Elegheert J, Aricescu AR, Pasterkamp RJ and Siebold C.
  TITLE     Simultaneous binding of Guidance Cues NET1 and RGM blocks
            extracellular NEO1 signaling
  JOURNAL   Cell 184 (8), 2103-2120 (2021)
   PUBMED   33740419
  REMARK    GeneRIF: Simultaneous binding of Guidance Cues NET1 and RGM blocks
            extracellular NEO1 signaling.
REFERENCE   4  (bases 1 to 3989)
  AUTHORS   Chen ZH, Ni QZ, Zhang XP, Ma N, Feng JK, Wang K, Li JJ, Xie D, Ma XY
            and Cheng SQ.
  TITLE     NET1 promotes HCC growth and metastasis in vitro and in vivo via
            activating the Akt signaling pathway
  JOURNAL   Aging (Albany NY) 13 (7), 10672-10687 (2021)
   PUBMED   33839702
  REMARK    GeneRIF: NET1 promotes HCC growth and metastasis in vitro and in
            vivo via activating the Akt signaling pathway.
REFERENCE   5  (bases 1 to 3989)
  AUTHORS   Leyden J, Murray D, Moss A, Arumuguma M, Doyle E, McEntee G, O'Keane
            C, Doran P and MacMathuna P.
  TITLE     Net1 and Myeov: computationally identified mediators of gastric
            cancer
  JOURNAL   Br J Cancer 94 (8), 1204-1212 (2006)
   PUBMED   16552434
  REMARK    GeneRIF: The putative role for NET1 genes may provide important
            targets for intervention in Gastric adenocarcinoma, evidenced by
            their role in promoting invasion and proliferation, key phenotypic
            hallmarks of cancer cells.
REFERENCE   6  (bases 1 to 3989)
  AUTHORS   Ozyildirim AM, Wistow GJ, Gao J, Wang J, Dickinson DP, Frierson HF
            Jr and Laurie GW.
  TITLE     The lacrimal gland transcriptome is an unusually rich source of rare
            and poorly characterized gene transcripts
  JOURNAL   Invest Ophthalmol Vis Sci 46 (5), 1572-1580 (2005)
   PUBMED   15851553
REFERENCE   7  (bases 1 to 3989)
  AUTHORS   Alberts AS, Qin H, Carr HS and Frost JA.
  TITLE     PAK1 negatively regulates the activity of the Rho exchange factor
            NET1
  JOURNAL   J Biol Chem 280 (13), 12152-12161 (2005)
   PUBMED   15684429
  REMARK    GeneRIF: PAK1 negatively regulates the activity of NET1
REFERENCE   8  (bases 1 to 3989)
  AUTHORS   Qin H, Carr HS, Wu X, Muallem D, Tran NH and Frost JA.
  TITLE     Characterization of the biochemical and transforming properties of
            the neuroepithelial transforming protein 1
  JOURNAL   J Biol Chem 280 (9), 7603-7613 (2005)
   PUBMED   15611121
  REMARK    GeneRIF: NET1 has roles in stimulating cytoskeletal reorganization
            and in transforming cells
REFERENCE   9  (bases 1 to 3989)
  AUTHORS   Shen X, Li J, Hu PP, Waddell D, Zhang J and Wang XF.
  TITLE     The activity of guanine exchange factor NET1 is essential for
            transforming growth factor-beta-mediated stress fiber formation
  JOURNAL   J Biol Chem 276 (18), 15362-15368 (2001)
   PUBMED   11278519
REFERENCE   10  (bases 1 to 3989)
  AUTHORS   Chan AM, Takai S, Yamada K and Miki T.
  TITLE     Isolation of a novel oncogene, NET1, from neuroepithelioma cells by
            expression cDNA cloning
  JOURNAL   Oncogene 12 (6), 1259-1266 (1996)
   PUBMED   8649828
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.16542.1,
            SRR1803617.217470.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000355029.9/ ENSP00000347134.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL732437.12.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001047160.2.
            Summary: This gene is part of the family of Rho guanine nucleotide
            exchange factors. Members of this family activate Rho proteins by
            catalyzing the exchange of GDP for GTP. The protein encoded by this
            gene interacts with RhoA within the cell nucleus and may play a
            role in repairing DNA damage after ionizing radiation. Pseudogenes
            of this gene are located on the long arms of chromosomes 1, 7 and
            18. Alternative splicing results in multiple transcript variants
            that encode different protein isoforms. [provided by RefSeq, Jul
            2012].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3989
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p15.1"
     gene            1..3989
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="neuroepithelial cell transforming 1"
                     /db_xref="GeneID:10276"
                     /db_xref="HGNC:HGNC:14592"
                     /db_xref="MIM:606450"
     misc_feature    38..40
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="upstream in-frame stop codon"
     CDS             137..1927
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     guanine nucleotide regulatory protein (oncogene); Rho
                     guanine nucleotide exchange factor (GEF) 8; neuroepithelial
                     cell-transforming gene 1 protein; p65 Net1 proto-oncogene
                     protein; neuroepithelioma transforming gene 1; small
                     GTP-binding protein regulator; epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="neuroepithelial cell-transforming gene 1 protein
                     isoform 1"
                     /protein_id="NP_001040625.1"
                     /db_xref="CCDS:CCDS41483.1"
                     /db_xref="GeneID:10276"
                     /db_xref="HGNC:HGNC:14592"
                     /db_xref="MIM:606450"
                     /translation="MEPELAAQKQPRPRRRSRRASGLSTEGATGPSADTSGSELDGRCS
                     LRRGSSFTFLTPGPNWDFTLKRKRREKDDDVVSLSSLDLKEPSNKRVRPLARVTSLANL
                     ISPVRNGAVRRFGQTIQSFTLRGDHRSPASAQKFSSRSTVPTPAKRRSSALWSEMLDIT
                     MKESLTTREIRRQEAIYEMSRGEQDLIEDLKLARKAYHDPMLKLSIMSEEELTHIFGDL
                     DSYIPLHEDLLTRIGEATKPDGTVEQIGHILVSWLPRLNAYRGYCSNQLAAKALLDQKK
                     QDPRVQDFLQRCLESPFSRKLDLWSFLDIPRSRLVKYPLLLKEILKHTPKEHPDVQLLE
                     DAILIIQGVLSDINLKKGESECQYYIDKLEYLDEKQRDPRIEASKVLLCHGELRSKSGH
                     KLYIFLFQDILVLTRPVTRNERHSYQVYRQPIPVQELVLEDLQDGDVRMGGSFRGAFSN
                     SEKAKNIFRIRFHDPSPAQSHTLQANDVFHKQQWFNCIRAAIAPFQSAGSPPELQGLPE
                     LHEECEGNHPSARKLTAQRRASTVSSVTQVEVDENAYRCGSGMQMAEDSKSLKTHQTQP
                     GIRRARDKALSGGKRKETLV"
     misc_feature    137..358
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z628.1);
                     Region: Necessary for nuclear localization.
                     /evidence=ECO:0000250"
     misc_feature    137..268
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z628.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    137..139
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q7Z628.1); acetylation site"
     misc_feature    170..193
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z628.1);
                     Region: Nuclear localization signal. /evidence=ECO:0000250"
     misc_feature    197..199
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7Z628.1); phosphorylation site"
     misc_feature    230..232
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q7Z628.1); phosphorylation site"
     misc_feature    332..352
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z628.1);
                     Region: Nuclear localization signal. /evidence=ECO:0000250"
     misc_feature    434..436
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7Z628.1); phosphorylation site"
     misc_feature    452..454
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q7Z628.1);
                     phosphorylation site"
     misc_feature    500..502
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7Z628.1); phosphorylation site"
     misc_feature    515..574
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z628.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1658..1660
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z206; propagated from
                     UniProtKB/Swiss-Prot (Q7Z628.1); phosphorylation site"
     misc_feature    1820..1924
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z628.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2628..2633
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="hexamer: ATTAAA"
     polyA_site      2645
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="major polyA site"
     regulatory      3066..3071
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="hexamer: AATAAT"
     polyA_site      3082
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
     regulatory      3119..3124
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="hexamer: GATAAA"
     polyA_site      3155
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
     regulatory      3239..3244
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="hexamer: ATTATA"
     polyA_site      3260
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
     regulatory      3283..3288
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="hexamer: AATATA"
     polyA_site      3317
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
     regulatory      3969..3974
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
                     /note="hexamer: AATGAA"
     polyA_site      3989
                     /gene="NET1"
                     /gene_synonym="ARHGEF8; NET1A"
ORIGIN
        1 aaatccccgg atgacggcgg tggcggctgc agtccgctga caggcgcttt ctgcctggca
       61 gaggctggcg ggcatcgtgc ccgtccctgc cggtctcccg ggcacccggc caccgcccca
      121 ccccctcctc cgtgccatgg agcccgagct ggcggctcag aagcagcctc gaccgcggag
      181 gcgaagccgc cgggcctctg ggctcagcac ggagggagcg acggggcctt cggccgacac
      241 ctccgggtcg gagctggacg ggagatgttc ccttcggaga ggcagctcct tcacattctt
      301 aacacctggc cccaactggg acttcacttt gaaaagaaaa cgcagagaga aagatgatga
      361 tgttgtaagc cttagcagcc ttgatctgaa ggagccaagc aataaaagag ttcgacctct
      421 ggctcgtgtc acgtccttgg caaatttaat ctctcctgta agaaatggag ctgtcagacg
      481 ttttggtcaa acaatacagt catttaccct tcgtggtgac cacagatccc cagcctctgc
      541 ccagaagttt tctagcaggt caacagtccc aacacccgcc aagagaagga gcagtgcact
      601 gtggtcagag atgctggaca tcaccatgaa ggagtctctc accaccaggg agatcagacg
      661 gcaggaggca atatatgaaa tgtcccgagg tgaacaggat ttaattgagg atctcaaact
      721 tgcaagaaag gcctatcatg accccatgtt aaagttgtcc atcatgtcag aagaggaact
      781 cacacatata tttggtgatc tggactctta catacctctg catgaagatt tgttgacaag
      841 aataggagaa gcaaccaagc ctgatggaac agtggagcag attggtcaca ttctcgtgag
      901 ctggttaccg cgcttgaatg cctacagagg ttactgtagt aaccagctgg cagccaaagc
      961 tcttcttgat caaaagaaac aggatccaag agtccaagac ttcctccagc gatgtctcga
     1021 gtctcccttc agtcgaaaac tagatctttg gagtttccta gatatccctc gaagtcgcct
     1081 agtcaaatac cctttactgt taaaagaaat tcttaaacac actccaaaag agcaccctga
     1141 tgttcagctt ctggaggatg ctatattgat aatacaggga gtcctctctg atatcaactt
     1201 gaagaaaggt gaatccgagt gccagtatta catcgacaag ctggagtacc tggatgaaaa
     1261 gcagagggac cccagaatcg aagcgagcaa agtgctgctg tgccatgggg agctgcggag
     1321 caagagtgga cataaacttt acattttcct gtttcaagac atcttggttc tgactcggcc
     1381 cgtcacacgg aacgaacggc actcttacca ggtttaccgg cagccaatcc cagtccaaga
     1441 gctagtccta gaagacctgc aggatggaga tgtgagaatg ggaggctcct ttcgaggagc
     1501 tttcagtaac tcagagaaag ctaaaaatat ctttagaatt cgcttccatg acccctctcc
     1561 agcccagtct cacactctgc aagccaatga cgtgttccac aagcagcagt ggttcaactg
     1621 tattcgagcg gccattgccc ccttccagtc ggcaggcagt ccacctgagc tgcagggcct
     1681 gccggagctg cacgaagagt gtgaggggaa ccacccctct gcgaggaaac tcacagccca
     1741 gaggagggca tccacagttt ccagtgttac tcaggtagaa gttgatgaaa acgcttacag
     1801 atgtggctct ggcatgcaga tggcagagga cagcaagagc ttaaagacac accagacaca
     1861 gcccggcatc cgaagagcga gggacaaagc cctttctggt ggcaaacgga aagagacttt
     1921 ggtgtagaga aggctctgtg tgttaactga tgggagagac tgtttgttta taaatgtgta
     1981 cagttttgtt ttctcgtaag gggagcatca tagggttact ttataccagt tgtaacattt
     2041 tcattgtttt tggttgttct tttttctttt tttaatggca gctaaagata tacagattac
     2101 tgttaaattg cagtcctttt ttttttaaag atattttctt gaattattta gaacatggta
     2161 agcctggtat tttttaatca aacaaaatat ttatgaaatg ggttttctct taattctgga
     2221 ttcatcatgg ctttctaata ccaattgtaa tatttacaat attcaccaaa acttagaatt
     2281 ttgcaaatgc tggaattctg ccagtgtttc tttgctaagc cttgcatgca aaatttgaaa
     2341 ttttaacatt ggcacccaaa acctacatgg aatgtatgtc tggagtattt caaactttac
     2401 attgaaacat aatttccttg gaaaacaaac cataagcctg aggaggtttt tatcaactgg
     2461 aatgctttat attagtttgt ttttcactgt acattcctca ttttacattc atttaacctg
     2521 ccgattattt aattttttta ttgtaaagta gtttttagca tttgctttta tttttttact
     2581 ttgatgcctt ttcaaattgg catgtcttta aagtattttt cttcctgatt aaaaatgtgt
     2641 gtgtatgtgt gtgtgtgtgt gtatatatat atatattttt aaatcacatt aattttacca
     2701 agtgaaacca agccatactg tttttgagcc aattaagaaa attgccattt ttaaagtgta
     2761 gcatttcagg gtaaagaccc atgaaatggc ttgatgtatt ctagactact gaaagaaaac
     2821 cacttcaaag attttgttga aagttttagt gttgtctgaa atgcaagagg gaaggtgatt
     2881 ggtagtgagt taaaagaaaa agagaggaaa agagagtagt tttgtcttca agtaaaatgt
     2941 ctggttgtgc cagacatttc acaagtgtga aaggagatag gagaagctca acttgagggc
     3001 gtgtagtaag ttgtagaagg ctcgagggga cgtggactta tttgccttgg tttgcaatac
     3061 ctgcaaataa tgagtttgaa aagaaacaat gaaatgtgtt aaaaatttga ccatattaga
     3121 taaattttcg tggatttagt cataagatgg aaaaagactg gtgaatcttt tattacaaaa
     3181 tgtttctgtt aaaatgggat catcatcttt gaaagggggg aggaggagta aaagcccgat
     3241 tataatggtg atcaattcaa gtcagtgttg actattctgt gaaatatatt tggccagtgg
     3301 aaatgataat cagaaaagac tgtaaataga tccatccaaa tgatttctct gtacaaatga
     3361 atgatactat taaaaaaaaa aaaagcacac acataatcac cctgaaggtt tcttgcctgg
     3421 tggctatgtt gggggcattt ggcaaaatat gctggtgtgg caaaggaggt agtggtaagc
     3481 ctcataaaag ttagtaaaaa ttgtagttca acctttgaaa tcattgatga atcagcgaaa
     3541 ggtaggtaag tcttgtgtta ggaaatcttt taagaacatg gtgtaatcag acacagcaat
     3601 tgtattgaaa ataactgaac acctgttact ttctggatag gatagtaagg gtagtagtgg
     3661 caaaggatcc tgattaattt cagattttaa tgtaagtacc tcaggttctt gtctttggaa
     3721 attcacattc ataagtgtat attacaccaa tgattgtgat ctgcaacacc agaaagcaag
     3781 atttctaatc atttccagag gtgttgtata gaatagttat tccagagtta ccttgatcag
     3841 cttctgaagt ttaagaagca agtaatagtt caagtgttgt taatggaatt atgttttatt
     3901 taaaaccgta tcttcttttg gttccctcaa aggtaaaaat aagacccaga atctgagtaa
     3961 atctattaaa tgaatgttct tcagaaata
//
LOCUS       NM_001048                607 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens somatostatin (SST), mRNA.
ACCESSION   NM_001048
VERSION     NM_001048.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 607)
  AUTHORS   Dienel SJ, Fish KN and Lewis DA.
  TITLE     The Nature of Prefrontal Cortical GABA Neuron Alterations in
            Schizophrenia: Markedly Lower Somatostatin and Parvalbumin Gene
            Expression Without Missing Neurons
  JOURNAL   Am J Psychiatry 180 (7), 495-507 (2023)
   PUBMED   37073488
  REMARK    GeneRIF: The Nature of Prefrontal Cortical GABA Neuron Alterations
            in Schizophrenia: Markedly Lower Somatostatin and Parvalbumin Gene
            Expression Without Missing Neurons.
REFERENCE   2  (bases 1 to 607)
  AUTHORS   Kothegala L, Miranda C, Singh M, Krieger JP and Gandasi NR.
  TITLE     Somatostatin Containing delta-Cell Number Is Reduced in Type-2
            Diabetes
  JOURNAL   Int J Mol Sci 24 (4), 3449 (2023)
   PUBMED   36834860
  REMARK    GeneRIF: Somatostatin Containing delta-Cell Number Is Reduced in
            Type-2 Diabetes. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 607)
  AUTHORS   Saez-Martinez P, Porcel-Pastrana F, Perez-Gomez JM, Pedraza-Arevalo
            S, Gomez-Gomez E, Jimenez-Vacas JM, Gahete MD and Luque RM.
  TITLE     Somatostatin, Cortistatin and Their Receptors Exert Antitumor
            Actions in Androgen-Independent Prostate Cancer Cells: Critical Role
            of Endogenous Cortistatin
  JOURNAL   Int J Mol Sci 23 (21), 13003 (2022)
   PUBMED   36361790
  REMARK    GeneRIF: Somatostatin, Cortistatin and Their Receptors Exert
            Antitumor Actions in Androgen-Independent Prostate Cancer Cells:
            Critical Role of Endogenous Cortistatin. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 607)
  AUTHORS   Flisher MF, Shin D and Huising MO.
  TITLE     Urocortin3: Local inducer of somatostatin release and bellwether of
            beta cell maturity
  JOURNAL   Peptides 151, 170748 (2022)
   PUBMED   35065098
  REMARK    GeneRIF: Urocortin3: Local inducer of somatostatin release and
            bellwether of beta cell maturity. Review article
REFERENCE   5  (bases 1 to 607)
  AUTHORS   Rogoza O, Megnis K, Kudrjavceva M, Gerina-Berzina A and Rovite V.
  TITLE     Role of Somatostatin Signalling in Neuroendocrine Tumours
  JOURNAL   Int J Mol Sci 23 (3), 1447 (2022)
   PUBMED   35163374
  REMARK    GeneRIF: Role of Somatostatin Signalling in Neuroendocrine Tumours.
            Review article Publication Status: Online-Only
REFERENCE   6  (bases 1 to 607)
  AUTHORS   Yamada Y, Reisine T, Law SF, Ihara Y, Kubota A, Kagimoto S, Seino M,
            Seino Y, Bell GI and Seino S.
  TITLE     Somatostatin receptors, an expanding gene family: cloning and
            functional characterization of human SSTR3, a protein coupled to
            adenylyl cyclase
  JOURNAL   Mol Endocrinol 6 (12), 2136-2142 (1992)
   PUBMED   1337145
REFERENCE   7  (bases 1 to 607)
  AUTHORS   Yamada Y, Post SR, Wang K, Tager HS, Bell GI and Seino S.
  TITLE     Cloning and functional characterization of a family of human and
            mouse somatostatin receptors expressed in brain, gastrointestinal
            tract, and kidney
  JOURNAL   Proc Natl Acad Sci U S A 89 (1), 251-255 (1992)
   PUBMED   1346068
REFERENCE   8  (bases 1 to 607)
  AUTHORS   Shen,L.P. and Rutter,W.J.
  TITLE     Sequence of the human somatostatin I gene
  JOURNAL   Science 224 (4645), 168-171 (1984)
   PUBMED   6142531
REFERENCE   9  (bases 1 to 607)
  AUTHORS   Shen,L.P., Pictet,R.L. and Rutter,W.J.
  TITLE     Human somatostatin I: sequence of the cDNA
  JOURNAL   Proc Natl Acad Sci U S A 79 (15), 4575-4579 (1982)
   PUBMED   6126875
REFERENCE   10  (bases 1 to 607)
  AUTHORS   Brazeau,P., Vale,W., Burgus,R., Ling,N., Butcher,M., Rivier,J. and
            Guillemin,R.
  TITLE     Hypothalamic polypeptide that inhibits the secretion of
            immunoreactive pituitary growth hormone
  JOURNAL   Science 179 (4068), 77-79 (1973)
   PUBMED   4682131
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.161501.1, BI669290.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000287641.4/ ENSP00000287641.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from R54287.1, BC032625.1 and
            BM353331.1.
            On Nov 23, 2018 this sequence version replaced NM_001048.3.
            Summary: The hormone somatostatin has active 14 aa and 28 aa forms
            that are produced by alternate cleavage of the single preproprotein
            encoded by this gene. Somatostatin is expressed throughout the body
            and inhibits the release of numerous secondary hormones by binding
            to high-affinity G-protein-coupled somatostatin receptors. This
            hormone is an important regulator of the endocrine system through
            its interactions with pituitary growth hormone, thyroid stimulating
            hormone, and most hormones of the gastrointestinal tract.
            Somatostatin also affects rates of neurotransmission in the central
            nervous system and proliferation of both normal and tumorigenic
            cells. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..607
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.3"
     gene            1..607
                     /gene="SST"
                     /gene_synonym="SMST; SST1"
                     /note="somatostatin"
                     /db_xref="GeneID:6750"
                     /db_xref="HGNC:HGNC:11329"
                     /db_xref="MIM:182450"
     misc_feature    65..67
                     /gene="SST"
                     /gene_synonym="SMST; SST1"
                     /note="upstream in-frame stop codon"
     CDS             104..454
                     /gene="SST"
                     /gene_synonym="SMST; SST1"
                     /note="somatostatin-14; somatostatin-28; growth hormone
                     release-inhibiting factor; prepro-somatostatin"
                     /codon_start=1
                     /product="somatostatin preproprotein"
                     /protein_id="NP_001039.1"
                     /db_xref="CCDS:CCDS3288.1"
                     /db_xref="GeneID:6750"
                     /db_xref="HGNC:HGNC:11329"
                     /db_xref="MIM:182450"
                     /translation="MLSCRLQCALAALSIVLALGCVTGAPSDPRLRQFLQKSLAAAAGK
                     QELAKYFLAELLSEPNQTENDALEPEDLSQAAEQDEMRLELQRSANSNPAMAPRERKAG
                     CKNFFWKTFTSC"
     sig_peptide     104..175
                     /gene="SST"
                     /gene_synonym="SMST; SST1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     proprotein      176..451
                     /gene="SST"
                     /gene_synonym="SMST; SST1"
                     /product="somatostatin proprotein"
     misc_feature    230..232
                     /gene="SST"
                     /gene_synonym="SMST; SST1"
                     /note="Alanine amide.
                     /evidence=ECO:0000250|UniProtKB:P01168; propagated from
                     UniProtKB/Swiss-Prot (P61278.1); amidation site"
     misc_feature    287..349
                     /gene="SST"
                     /gene_synonym="SMST; SST1"
                     /note="propagated from UniProtKB/Swiss-Prot (P61278.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     mat_peptide     368..451
                     /gene="SST"
                     /gene_synonym="SMST; SST1"
                     /product="somatostatin-28"
     mat_peptide     410..451
                     /gene="SST"
                     /gene_synonym="SMST; SST1"
                     /product="somatostatin-14"
                     /exception="alternative processing"
     regulatory      580..585
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SST"
                     /gene_synonym="SMST; SST1"
                     /note="hexamer: AATAAA"
     polyA_site      607
                     /gene="SST"
                     /gene_synonym="SMST; SST1"
                     /note="major polyA site"
ORIGIN
        1 acaagccgct ttaggagcga ggttcggagc catcgctgct gcctgctgat ccgcgcctag
       61 agtttgacca gccactctcc agctcggctt tcgcggcgcc gagatgctgt cctgccgcct
      121 ccagtgcgcg ctggctgcgc tgtccatcgt cctggccctg ggctgtgtca ccggcgctcc
      181 ctcggacccc agactccgtc agtttctgca gaagtccctg gctgctgccg cggggaagca
      241 ggaactggcc aagtacttct tggcagagct gctgtctgaa cccaaccaga cggagaatga
      301 tgccctggaa cctgaagatc tgtcccaggc tgctgagcag gatgaaatga ggcttgagct
      361 gcagagatct gctaactcaa acccggctat ggcaccccga gaacgcaaag ctggctgcaa
      421 gaatttcttc tggaagactt tcacatcctg ttagctttct taactagtat tgtccatatc
      481 agacctctga tccctcgccc ccacacccca tctctcttcc ctaatcctcc aagtcttcag
      541 cgagaccctt gcattagaaa ctgaaaactg taaatacaaa ataaaattat ggtgaaatta
      601 tgaaaaa
//
LOCUS       NM_001048166            5019 bp    mRNA    linear   PRI 12-MAY-2023
DEFINITION  Homo sapiens STIL centriolar assembly protein (STIL), transcript
            variant 1, mRNA.
ACCESSION   NM_001048166
VERSION     NM_001048166.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5019)
  AUTHORS   Li J, Qi Y, Li B, Liu Y, Yang K, Zhang Z, Zhu J and Du E.
  TITLE     STIL/AURKA axis promotes cell proliferation by influencing primary
            cilia formation in bladder cancer
  JOURNAL   J Transl Med 21 (1), 281 (2023)
   PUBMED   37101292
  REMARK    GeneRIF: STIL/AURKA axis promotes cell proliferation by influencing
            primary cilia formation in bladder cancer. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 5019)
  AUTHORS   Chen Z, Ling K, Zhu Y, Deng L, Li Y and Liang Z.
  TITLE     circ0000069 promotes cervical cancer cell proliferation and
            migration by inhibiting miR-4426
  JOURNAL   Biochem Biophys Res Commun 551, 114-120 (2021)
   PUBMED   33725572
  REMARK    GeneRIF: circ0000069 promotes cervical cancer cell proliferation and
            migration by inhibiting miR-4426.
REFERENCE   3  (bases 1 to 5019)
  AUTHORS   Kumar A, Girimaji SC, Duvvari MR and Blanton SH.
  TITLE     Mutations in STIL, encoding a pericentriolar and centrosomal
            protein, cause primary microcephaly
  JOURNAL   Am J Hum Genet 84 (2), 286-290 (2009)
   PUBMED   19215732
  REMARK    GeneRIF: Primary microcephaly is an autosomal-recessive congenital
            disorder characterized by smaller brain size and mental retardation,
            in which homozygote mutations in STIL proteins are found.
REFERENCE   4  (bases 1 to 5019)
  AUTHORS   Colaizzo-Anas T and Aplan PD.
  TITLE     Cloning and characterization of the SIL promoter
  JOURNAL   Biochim Biophys Acta 1625 (2), 207-213 (2003)
   PUBMED   12531481
  REMARK    GeneRIF: isolation and characterization of a cloned promoter as well
            as its role in leukemogenesis
REFERENCE   5  (bases 1 to 5019)
  AUTHORS   Karkera JD, Izraeli S, Roessler E, Dutra A, Kirsch I and Muenke M.
  TITLE     The genomic structure, chromosomal localization, and analysis of SIL
            as a candidate gene for holoprosencephaly
  JOURNAL   Cytogenet Genome Res 97 (1-2), 62-67 (2002)
   PUBMED   12438740
  REMARK    GeneRIF: dHPLC techniques were used to screen for mutations and
            these studies identified several common polymorphisms but no
            disease-associated mutations, suggesting that SIL is not a common
            factor in holoprosencephaly pathogenesis in humans.
REFERENCE   6  (bases 1 to 5019)
  AUTHORS   Verloes,A., Drunat,S., Gressens,P. and Passemard,S.
  TITLE     Primary Autosomal Recessive Microcephalies and Seckel Syndrome
            Spectrum Disorders - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301772
REFERENCE   7  (bases 1 to 5019)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301702
REFERENCE   8  (bases 1 to 5019)
  AUTHORS   Aplan PD, Lombardi DP, Reaman GH, Sather HN, Hammond GD and Kirsch
            IR.
  TITLE     Involvement of the putative hematopoietic transcription factor SCL
            in T-cell acute lymphoblastic leukemia
  JOURNAL   Blood 79 (5), 1327-1333 (1992)
   PUBMED   1311214
REFERENCE   9  (bases 1 to 5019)
  AUTHORS   Aplan PD, Lombardi DP and Kirsch IR.
  TITLE     Structural characterization of SIL, a gene frequently disrupted in
            T-cell acute lymphoblastic leukemia
  JOURNAL   Mol Cell Biol 11 (11), 5462-5469 (1991)
   PUBMED   1922059
REFERENCE   10  (bases 1 to 5019)
  AUTHORS   Jonsson OG, Kitchens RL, Baer RJ, Buchanan GR and Smith RG.
  TITLE     Rearrangements of the tal-1 locus as clonal markers for T cell acute
            lymphoblastic leukemia
  JOURNAL   J Clin Invest 87 (6), 2029-2035 (1991)
   PUBMED   2040693
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CR749851.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000371877.8/ ENSP00000360944.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB062487.1, CR749851.1,
            DA754072.1, AL135960.1 and AA897748.1.
            This sequence is a reference standard in the RefSeqGene project.
            Summary: This gene encodes a cytoplasmic protein implicated in
            regulation of the mitotic spindle checkpoint, a regulatory pathway
            that monitors chromosome segregation during cell division to ensure
            the proper distribution of chromosomes to daughter cells. The
            protein is phosphorylated in mitosis and in response to activation
            of the spindle checkpoint, and disappears when cells transition to
            G1 phase. It interacts with a mitotic regulator, and its expression
            is required to efficiently activate the spindle checkpoint. It is
            proposed to regulate Cdc2 kinase activity during spindle checkpoint
            arrest. Chromosomal deletions that fuse this gene and the adjacent
            locus commonly occur in T cell leukemias, and are thought to arise
            through illegitimate V-(D)-J recombination events. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5019
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p33"
     gene            1..5019
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="STIL centriolar assembly protein"
                     /db_xref="GeneID:6491"
                     /db_xref="HGNC:HGNC:10879"
                     /db_xref="MIM:181590"
     misc_feature    1
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="major transcription initiation site"
     misc_feature    132..134
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="upstream in-frame stop codon"
     CDS             156..4022
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     SCL-interrupting locus protein; SCL/TAL1 interrupting
                     locus; TAL-1-interrupting locus protein"
                     /codon_start=1
                     /product="SCL-interrupting locus protein isoform 1"
                     /protein_id="NP_001041631.1"
                     /db_xref="CCDS:CCDS41329.1"
                     /db_xref="GeneID:6491"
                     /db_xref="HGNC:HGNC:10879"
                     /db_xref="MIM:181590"
                     /translation="MEPIYPFARPQMNTRFPSSRMVPFHFPPSKCALWNPTPTGDFIYL
                     HLSYYRNPKLVVTEKTIRLAYRHAKQNKKNSSCFLLGSLTADEDEEGVTLTVDRFDPGR
                     EVPECLEITPTASLPGDFLIPCKVHTQELCSREMIVHSVDDFSSALKALQCHICSKDSL
                     DCGKLLSLRVHITSRESLDSVEFDLHWAAVTLANNFKCTPVKPIPIIPTALARNLSSNL
                     NISQVQGTYKYGYLTMDETRKLLLLLESDPKVYSLPLVGIWLSGITHIYSPQVWACCLR
                     YIFNSSVQERVFSESGNFIIVLYSMTHKEPEFYECFPCDGKIPDFRFQLLTSKETLHLF
                     KNVEPPDKNPIRCELSAESQNAETEFFSKASKNFSIKRSSQKLSSGKMPIHDHDSGVED
                     EDFSPRPIPSPHPVSQKISKIQPSVPELSLVLDGNFIESNPLPTPLEMVNNENPPLINH
                     LEHLKPLQPQLYDEKHSPEVEAGEPSLRGIPNQLNQDKPALLRHCKVRQPPAYKKGNPH
                     TRNSIKPSSHNGPSHDIFEKLQTVSAGNVQNEEYPIRPSTLNSRQSSLAPQSQPHDFVF
                     SPHNSGRPMELQIPTPPLPSYCSTNVCRCCQHHSHIQYSPLNSWQGANTVGSIQDVQSE
                     ALQKHSLFHPSGCPALYCNAFCSSSSPIALRPQGDMGSCSPHSNIEPSPVARPPSHMDL
                     CNPQPCTVCMHTPKTESDNGMMGLSPDAYRFLTEQDRQLRLLQAQIQRLLEAQSLMPCS
                     PKTTAVEDTVQAGRQMELVSVEAQSSPGLHMRKGVSIAVSTGASLFWNAAGEDQEPDSQ
                     MKQDDTKISSEDMNFSVDINNEVTSLPGSASSLKAVDIPSFEESNIAVEEEFNQPLSVS
                     NSSSLVVRKEPDVPVFFPSGQLAESVSMCLQTGPTGGASNNSETSEEPKIEHVMQPLLH
                     QPSDNQKIYQDLLGQVNHLLNSSSKETEQPSTKAVIISHECTRTQNVYHTKKKTHHSRL
                     VDKDCVLNATLKQLRSLGVKIDSPTKVKKNAHNVDHASVLACISPEAVISGLNCMSFAN
                     VGMSGLSPNGVDLSMEANAIALKYLNENQLSQLSVTRSNQNNCDPFSLLHINTDRSTVG
                     LSLISPNNMSFATKKYMKRYGLLQSSDNSEDEEEPPDNADSKSEYLLNQNLRSIPEQLG
                     GQKEPSKNDHEIINCSNCESVGTNADTPVLRNITNEVLQTKAKQQLTEKPAFLVKNLKP
                     SPAVNLRTGKAEFTQHPEKENEGDITIFPESLQPSETLKQMNSMNSVGTFLDVKRLRQL
                     PKLF"
     misc_feature    156..158
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q15468.2); acetylation site"
     misc_feature    846..2498
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15468.2);
                     Region: Interaction with CENPJ.
                     /evidence=ECO:0000269|PubMed:22020124,
                     ECO:0000269|PubMed:25385835"
     misc_feature    1287..1406
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15468.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1338..1340
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15468.2); phosphorylation site"
     misc_feature    1677..1754
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15468.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1905..2492
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15468.2);
                     Region: PIN1-binding. /evidence=ECO:0000250"
     misc_feature    2412..2414
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q15468.2); phosphorylation site"
     misc_feature    2490..2492
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15468.2); phosphorylation site"
     misc_feature    3561..3563
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q15468.2); phosphorylation site"
     regulatory      4993..4998
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="hexamer: AATAAA"
     polyA_site      5019
                     /gene="STIL"
                     /gene_synonym="MCPH7; SIL"
                     /note="major polyA site"
ORIGIN
        1 agttcccgcg accccaacgt cccagaggcg gggccggagt cggcggtggc gctccttgga
       61 gccggctccc gctcctaccc tgcaaacaga cctcagctcc gcggaagttg cggatactga
      121 ggatttggaa ttaaagaaat cattcaccag acatcatgga gcctatatat ccttttgcac
      181 ggccccagat gaataccagg tttccttcaa gcaggatggt acctttccac tttcctccat
      241 caaaatgtgc actttggaac ccaacgccaa ctggagattt catctactta catctcagtt
      301 actacagaaa tccaaagctt gtggtgactg agaagaccat ccgacttgct tatcgtcatg
      361 ctaagcagaa taaaaaaaat tcgtcatgct ttttacttgg ttctctgaca gcagacgaag
      421 atgaagaagg tgtaacattg acagtagatc gctttgatcc tggtcgagaa gtacctgaat
      481 gcctagaaat aacccctact gcttctcttc ctggggactt tttgattcca tgcaaagttc
      541 atactcaaga actttgttca agagaaatga tagttcacag tgtagatgac ttcagttcag
      601 ctttaaaggc tctacagtgc catatatgta gcaaagattc cttggactgt ggtaagctgc
      661 tttccctaag agttcatatc acttccaggg agagtttgga cagtgtggaa tttgacttgc
      721 attgggcagc agtaactcta gcaaataact ttaaatgcac acctgtgaag cccatcccca
      781 ttattccaac agctctggca agaaacttga gcagtaatct gaatatttct caagttcaag
      841 ggacttataa atatggatat cttaccatgg atgaaacacg caaattgtta cttttgttgg
      901 aatctgatcc caaggtttat tctctaccat tggtgggaat ttggctgtct ggaattacac
      961 atatctatag tcctcaggta tgggcttgct gtttgcgata catattcaat tcttctgttc
     1021 aagaaagggt tttttcagaa tctggaaatt tcatcatagt tctctattct atgacacata
     1081 aggaacctga gttttatgaa tgcttccctt gtgatggcaa gatacctgac tttcggtttc
     1141 agttgctaac cagtaaggaa acattacatc ttttcaaaaa tgttgaacct cctgacaaaa
     1201 atccaatccg ttgtgaactg agcgctgaaa gccaaaatgc agaaacagag tttttcagta
     1261 aggcttccaa gaatttttca attaagaggt cttcccaaaa gttatcttct gggaagatgc
     1321 caatacatga tcacgactct ggtgttgaag atgaagattt ttctccaaga ccaattccta
     1381 gtcctcatcc agtgagtcag aagatttcta agatccaacc atcagttcct gaactttcac
     1441 ttgtgttgga tggcaatttc atagaatcaa accctctgcc tactccattg gaaatggtga
     1501 ataatgaaaa tcctcctttg attaaccact tggaacactt gaagccattg caaccccagc
     1561 tttatgatga gaaacacagt ccagaagttg aagctggaga gccttccttg agaggaatac
     1621 caaatcagtt aaaccaggat aaaccagctc ttttgagaca ctgcaaagta agacagccac
     1681 ctgcctataa gaaagggaac ccccatacca ggaacagtat taaaccatct tctcataatg
     1741 ggccatctca tgatatattt gaaaagctcc aaacagtttc tgctggaaat gtacaaaacg
     1801 aagagtatcc tataagaccc tccacactta attctaggca gtcttctctt gccccgcagt
     1861 cccaaccaca cgattttgtt ttttcacccc ataattcagg aagaccaatg gaacttcaga
     1921 tacctactcc cccactgcca tcttactgtt ccacaaacgt ttgcaggtgt tgtcagcatc
     1981 atagtcatat tcaatatagt ccgctaaatt cttggcaagg agcaaacaca gttggatcca
     2041 ttcaagatgt ccagtctgaa gcccttcaaa agcattcatt atttcaccca agtggatgtc
     2101 cagccctgta ctgtaatgca ttctgttctt caagtagtcc tatagccttg agacctcagg
     2161 gagatatggg cagttgttct ccccacagca atattgaacc atcgcctgtg gcaagaccgc
     2221 cttcacatat ggacttatgt aacccacagc cttgcacagt gtgcatgcac acacccaaga
     2281 ctgagtcaga taatggaatg atgggactat ctccagatgc atatcggttc ctcacagaac
     2341 aagacagaca gctaagacta cttcaggcac agattcagcg tttgttggaa gcacagtctc
     2401 tgatgccctg ttcccctaag acaactgctg ttgaagacac agtgcaagct ggaagacaaa
     2461 tggagttggt ttctgtggaa gcacagtctt cccctggctt gcacatgaga aaaggtgtaa
     2521 gcattgctgt gagcacaggt gctagcttgt tttggaatgc agcaggtgag gatcaagagc
     2581 ctgactctca aatgaagcaa gatgatacca aaatttccag tgaggacatg aatttttctg
     2641 tcgatattaa taatgaagtc acaagtcttc caggtagtgc atcttcatta aaagcagttg
     2701 atattcccag ttttgaagag agcaacattg ctgtggaaga agaatttaac cagccacttt
     2761 ctgtatccaa cagctcttct ctagttgtga gaaaagaacc tgatgtacct gtgttctttc
     2821 caagtggcca gctggcagaa agtgtaagca tgtgtttaca gactggacca acagggggtg
     2881 ccagtaacaa ttctgaaaca tcagaggaac caaaaattga gcatgtaatg caacccttgc
     2941 ttcatcaacc atcagataac cagaaaattt accaggattt attgggtcaa gtaaaccacc
     3001 tattaaatag ttcctccaag gaaactgagc agccgtctac caaagcagta attatcagtc
     3061 atgaatgcac cagaacccaa aacgtttacc atacaaagaa aaaaacacat cattcaagac
     3121 tggtggacaa agattgtgtc cttaatgcaa ctcttaagca actaagaagc cttggagtaa
     3181 aaattgattc tcccactaaa gtgaagaaaa atgcacataa cgtggatcac gccagtgtgt
     3241 tggcatgcat cagcccagaa gcagtgatct ctggattaaa ctgcatgtca tttgctaatg
     3301 ttggcatgag cggcttaagc cccaatggtg tggatttgag catggaggca aatgctatag
     3361 ctctgaaata tttaaatgaa aatcagctgt cacaactgtc tgtcactcga tcgaaccaaa
     3421 ataattgtga cccattcagc cttctccata ttaatacaga cagaagcaca gtggggctta
     3481 gtttaatttc accaaacaac atgtcatttg caaccaaaaa atatatgaag agatatggac
     3541 tcctacaaag cagtgacaat agtgaagatg aagaggaacc tcccgacaat gcagatagca
     3601 agagtgaata tttattgaat cagaacctta ggtccatacc tgaacagctt ggtggtcaga
     3661 aagagccttc taagaatgac catgaaataa ttaattgttc taactgtgaa tctgtgggga
     3721 ccaacgcaga tacgccagta ttgagaaata ttacaaatga agttttgcag acaaaagcaa
     3781 aacagcagtt gactgaaaag ccagctttct tagtaaagaa ccttaaacca agtcctgcag
     3841 tgaaccttcg aaccgggaaa gcagagttca ctcaacatcc tgagaaagaa aatgaagggg
     3901 acattacaat ttttcctgaa agtttgcaac cttctgaaac gctaaagcag atgaatagca
     3961 tgaattcagt aggcaccttc ttagatgtaa aacgtctcag acagttacca aaattatttt
     4021 aaccttttaa ctccctgccc ttttaataca gggacagggt gtctcctgaa gatacttagg
     4081 gaaaacagga gcctaccaca aggctcctga tcattctgga gtcactgttt cttggtagca
     4141 gccaattggg aagagtgact tctgtgagat ggctggctgg tgataggact aagttctcat
     4201 tgttcaaata gagctgttca acatcactga aacctttaag aaaagccctg agatcagtta
     4261 ttcctacaag tttaagtagt agacagatac tatccagctc taagtctcaa ctgctctttt
     4321 atactgtact tttttttttg agacggagtt ttgctcttgt agcccaggct ggagtgcaat
     4381 ggcaggatct cagatcactg caacctctgc ctcctgggtt caagcgattt tcctgcttca
     4441 tcttcccagg tagctgggat tacaggcatg tgccacaacg cctggctaat tttgtatttt
     4501 tagtagagac tggtttctcc atgttggtca ggctggtctc aaactcccga cctcaggtga
     4561 tccgcccgcc tcggcctcct aaagtgctgg gattacaggc gtgagccact gcgcccagct
     4621 atactgtata ttttaagaag ttccagcatg ttgcatctct gcatttatcc tatatcatta
     4681 aaagaacata agttatcatg gtgttgggta aattagcgaa atcaaccctt cctaagttta
     4741 agggaaaagt tatttttaaa aacaacttaa taaaaactta cactctttta tacaagagtg
     4801 tatttcccct taattaggat gcatgttgat taaactcgag atacagcttt ttgcagtatg
     4861 gtgggttggt tttggtgtaa catcttcaac atgtcacact ggctatcaaa gaataagaaa
     4921 attattgagt atgagtgtgt tttataaact ttctgagttt ttcagatgtc ttaatatttt
     4981 ttaatagaac ttaataaaat gtctagattg actattttc
//
LOCUS       NM_001048174            1708 bp    mRNA    linear   PRI 03-APR-2023
DEFINITION  Homo sapiens mutY DNA glycosylase (MUTYH), transcript variant beta3,
            mRNA.
ACCESSION   NM_001048174
VERSION     NM_001048174.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1708)
  AUTHORS   Xiao F, Li J, Lagniton PNP, Kou SH, Lei H, Tam B and Wang SM.
  TITLE     Evolutionary Origin of MUTYH Germline Pathogenic Variations in
            Modern Humans
  JOURNAL   Biomolecules 13 (3), 429 (2023)
   PUBMED   36979362
  REMARK    GeneRIF: Evolutionary Origin of MUTYH Germline Pathogenic Variations
            in Modern Humans. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1708)
  AUTHORS   Demir M, Russelburg LP, Lin WJ, Trasvina-Arenas CH, Huang B, Yuen
            PK, Horvath MP and David SS.
  TITLE     Structural snapshots of base excision by the cancer-associated
            variant MutY N146S reveal a retaining mechanism
  JOURNAL   Nucleic Acids Res 51 (3), 1034-1049 (2023)
   PUBMED   36631987
  REMARK    GeneRIF: Structural snapshots of base excision by the
            cancer-associated variant MutY N146S reveal a retaining mechanism.
REFERENCE   3  (bases 1 to 1708)
  AUTHORS   Naebi H, Bandegi A, Talebinasab F, Samidoust P, Norollahi SE, Vahidi
            S and Samadani AA.
  TITLE     MUTYH and KLF6 gene expression fluctuations in tumor tissue and
            tumor margins tissues of colorectal cancer
  JOURNAL   J Egypt Natl Canc Inst 34 (1), 57 (2022)
   PUBMED   36464752
  REMARK    GeneRIF: MUTYH and KLF6 gene expression fluctuations in tumor tissue
            and tumor margins tissues of colorectal cancer. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 1708)
  AUTHORS   Agaoglu NB, Ng OH, Unal B, Dogan OA, Amanvermez U, Yildiz J, Doganay
            L, Ghazani AA and Rana HQ.
  TITLE     Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a
            Hereditary Cancer Family
  JOURNAL   Cancer Genet 268-269, 128-136 (2022)
   PUBMED   36368126
  REMARK    GeneRIF: Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in
            a Hereditary Cancer Family.
REFERENCE   5  (bases 1 to 1708)
  AUTHORS   Yamaguchi S, Shinmura K, Saitoh T, Takenoshita S, Kuwano H and
            Yokota J.
  TITLE     A single nucleotide polymorphism at the splice donor site of the
            human MYH base excision repair genes results in reduced translation
            efficiency of its transcripts
  JOURNAL   Genes Cells 7 (5), 461-474 (2002)
   PUBMED   12056405
  REMARK    GeneRIF: effect of a single nucleotide polymorphism (SNP) in the MYH
            gene on the difference in the expression levels of its products
REFERENCE   6  (bases 1 to 1708)
  AUTHORS   Slupska MM, Baikalov C, Luther WM, Chiang JH, Wei YF and Miller JH.
  TITLE     Cloning and sequencing a human homolog (hMYH) of the Escherichia
            coli mutY gene whose function is required for the repair of
            oxidative DNA damage
  JOURNAL   J Bacteriol 178 (13), 3885-3892 (1996)
   PUBMED   8682794
REFERENCE   7  (bases 1 to 1708)
  AUTHORS   McGoldrick JP, Yeh YC, Solomon M, Essigmann JM and Lu AL.
  TITLE     Characterization of a mammalian homolog of the Escherichia coli MutY
            mismatch repair protein
  JOURNAL   Mol Cell Biol 15 (2), 989-996 (1995)
   PUBMED   7823963
REFERENCE   8  (bases 1 to 1708)
  AUTHORS   Nielsen,M., Infante,E. and Brand,R.
  TITLE     MUTYH Polyposis
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   23035301
REFERENCE   9  (bases 1 to 1708)
  AUTHORS   Ged C, Umbenhauer DR, Bellew TM, Bork RW, Srivastava PK, Shinriki N,
            Lloyd RS and Guengerich FP.
  TITLE     Characterization of cDNAs, mRNAs, and proteins related to human
            liver microsomal cytochrome P-450 (S)-mephenytoin 4'-hydroxylase
  JOURNAL   Biochemistry 27 (18), 6929-6940 (1988)
   PUBMED   3196692
REFERENCE   10  (bases 1 to 1708)
  AUTHORS   Umbenhauer,D.R., Martin,M.V., Lloyd,R.S. and Guengerich,F.P.
  TITLE     Cloning and sequence determination of a complementary DNA related to
            human liver microsomal cytochrome P-450 S-mephenytoin 4-hydroxylase
  JOURNAL   Biochemistry 26 (4), 1094-1099 (1987)
   PUBMED   3032244
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB032925.1, SRR18074967.3850992.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 10471731, 9611236;
            reported by MitoCarta
            MANE Ensembl match :: ENST00000456914.7/ ENSP00000407590.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359540.19 and AB032925.1.
            On Jan 28, 2020 this sequence version replaced NM_001048174.1.
            Summary: This gene encodes a DNA glycosylase involved in oxidative
            DNA damage repair. The enzyme excises adenine bases from the DNA
            backbone at sites where adenine is inappropriately paired with
            guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively
            damaged DNA lesion. The protein is localized to the nucleus and
            mitochondria. This gene product is thought to play a role in
            signaling apoptosis by the introduction of single-strand breaks
            following oxidative damage. Mutations in this gene result in
            heritable predisposition to colorectal cancer, termed
            MUTYH-associated polyposis (MAP). Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Apr 2017].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1708
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..1708
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /note="mutY DNA glycosylase"
                     /db_xref="GeneID:4595"
                     /db_xref="HGNC:HGNC:7527"
                     /db_xref="MIM:604933"
     CDS             79..1644
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /EC_number="3.2.2.31"
                     /note="isoform 2 is encoded by transcript variant beta3;
                     A/G-specific adenine DNA glycosylase; mutY-like protein;
                     mutY homolog"
                     /codon_start=1
                     /product="adenine DNA glycosylase isoform 2"
                     /protein_id="NP_001041639.1"
                     /db_xref="CCDS:CCDS41322.1"
                     /db_xref="GeneID:4595"
                     /db_xref="HGNC:HGNC:7527"
                     /db_xref="MIM:604933"
                     /translation="MRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGLARQPE
                     EVVLQASVSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWV
                     SEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLWAGLGYYSRGRRLQEGAR
                     KVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIG
                     ADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRAR
                     QRVEQEQLLASGSLSGSPDVEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPR
                     EESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQRKALLQELQRW
                     AGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAV
                     STAMKKVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLN
                     SAAQ"
     regulatory      1684..1689
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /note="hexamer: AGTAAA"
     polyA_site      1708
                     /gene="MUTYH"
                     /gene_synonym="MYH"
                     /note="major polyA site"
ORIGIN
        1 ctttctctcc tgctctcgcg gcgggaacgc ggggcctccg tgttctgctg tcttcatcag
       61 cgtgggccgc gggccatcat gaggaagcca cgagcagccg tgggaagtgg tcacaggaag
      121 caggcagcca gccaggaagg gaggcagaag catgctaaga acaacagtca ggccaagcct
      181 tctgcctgtg atggcctggc caggcagccg gaagaggtgg tattgcaggc ctctgtctcc
      241 tcataccatc tattcagaga cgtagctgaa gtcacagcct tccgagggag cctgctaagc
      301 tggtacgacc aagagaaacg ggacctacca tggagaagac gggcagaaga tgagatggac
      361 ctggacaggc gggcatatgc tgtgtgggtc tcagaggtca tgctgcagca gacccaggtt
      421 gccactgtga tcaactacta taccggatgg atgcagaagt ggcctacact gcaggacctg
      481 gccagtgctt ccctggagga ggtgaatcaa ctctgggctg gcctgggcta ctattctcgt
      541 ggccggcggc tgcaggaggg agctcggaag gtggtagagg agctaggggg ccacatgcca
      601 cgtacagcag agaccctgca gcagctcctg cctggcgtgg ggcgctacac agctggggcc
      661 attgcctcta tcgcctttgg ccaggcaacc ggtgtggtgg atggcaacgt agcacgggtg
      721 ctgtgccgtg tccgagccat tggtgctgat cccagcagca cccttgtttc ccagcagctc
      781 tggggtctag cccagcagct ggtggaccca gcccggccag gagatttcaa ccaagcagcc
      841 atggagctag gggccacagt gtgtacccca cagcgcccac tgtgcagcca gtgccctgtg
      901 gagagcctgt gccgggcacg ccagagagtg gagcaggaac agctcttagc ctcagggagc
      961 ctgtcgggca gtcctgacgt ggaggagtgt gctcccaaca ctggacagtg ccacctgtgc
     1021 ctgcctccct cggagccctg ggaccagacc ctgggagtgg tcaacttccc cagaaaggcc
     1081 agccgcaagc cccccaggga ggagagctct gccacctgtg ttctggaaca gcctggggcc
     1141 cttggggccc aaattctgct ggtgcagagg cccaactcag gtctgctggc aggactgtgg
     1201 gagttcccgt ccgtgacctg ggagccctca gagcagcttc agcgcaaggc cctgctgcag
     1261 gaactacagc gttgggctgg gcccctccca gccacgcacc tccggcacct tggggaggtt
     1321 gtccacacct tctctcacat caagctgaca tatcaagtat atgggctggc cttggaaggg
     1381 cagaccccag tgaccaccgt accaccaggt gctcgctggc tgacgcagga ggaatttcac
     1441 accgcagctg tttccaccgc catgaaaaag gttttccgtg tgtatcaggg ccaacagcca
     1501 gggacctgta tgggttccaa aaggtcccag gtgtcctctc cgtgcagtcg gaaaaagccc
     1561 cgcatgggcc agcaagtcct ggataatttc tttcggtctc acatctccac tgatgcacac
     1621 agcctcaaca gtgcagccca gtgacacctc tgaaagcccc cattccctga gaatcctgtt
     1681 gttagtaaag tgcttatttt tgtagtta
//
LOCUS       NM_001048181            1261 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens opsin 1, medium wave sensitive 2 (OPN1MW2), mRNA.
ACCESSION   NM_001048181
VERSION     NM_001048181.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1261)
  AUTHORS   Hofmann L, Alexander NS, Sun W, Zhang J, Orban T and Palczewski K.
  TITLE     Hydrogen/Deuterium Exchange Mass Spectrometry of Human Green Opsin
            Reveals a Conserved Pro-Pro Motif in Extracellular Loop 2 of
            Monostable Visual G Protein-Coupled Receptors
  JOURNAL   Biochemistry 56 (17), 2338-2348 (2017)
   PUBMED   28402104
REFERENCE   2  (bases 1 to 1261)
  AUTHORS   Zhang X, Bedigian AV, Wang W and Eggert US.
  TITLE     G protein-coupled receptors participate in cytokinesis
  JOURNAL   Cytoskeleton (Hoboken) 69 (10), 810-818 (2012)
   PUBMED   22888021
REFERENCE   3  (bases 1 to 1261)
  AUTHORS   Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A,
            Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER,
            Cheetham ME, Moore AT, Michaelides M and Hardcastle AJ.
  TITLE     X-linked cone dystrophy caused by mutation of the red and green cone
            opsins
  JOURNAL   Am J Hum Genet 87 (1), 26-39 (2010)
   PUBMED   20579627
REFERENCE   4  (bases 1 to 1261)
  AUTHORS   Tsutsumi M, Ikeyama K, Denda S, Nakanishi J, Fuziwara S, Aoki H and
            Denda M.
  TITLE     Expressions of rod and cone photoreceptor-like proteins in human
            epidermis
  JOURNAL   Exp Dermatol 18 (6), 567-570 (2009)
   PUBMED   19493002
  REMARK    GeneRIF: Immunoreactivity to anti-OPN1LW antibodies was seen in the
            basal layer of human epidermis & reconstructed skin. The opsin mRNA
            was seen in total RNA from human skin. Neither immunoreactivity nor
            mRNA expression was seen in cultured human keratinocytes.
REFERENCE   5  (bases 1 to 1261)
  AUTHORS   Luttrell LM.
  TITLE     Reviews in molecular biology and biotechnology: transmembrane
            signaling by G protein-coupled receptors
  JOURNAL   Mol Biotechnol 39 (3), 239-264 (2008)
   PUBMED   18240029
  REMARK    Review article
REFERENCE   6  (bases 1 to 1261)
  AUTHORS   Hayashi T, Motulsky AG and Deeb SS.
  TITLE     Position of a 'green-red' hybrid gene in the visual pigment array
            determines colour-vision phenotype
  JOURNAL   Nat Genet 22 (1), 90-93 (1999)
   PUBMED   10319869
REFERENCE   7  (bases 1 to 1261)
  AUTHORS   Asenjo AB, Rim J and Oprian DD.
  TITLE     Molecular determinants of human red/green color discrimination
  JOURNAL   Neuron 12 (5), 1131-1138 (1994)
   PUBMED   8185948
REFERENCE   8  (bases 1 to 1261)
  AUTHORS   Winderickx J, Sanocki E, Lindsey DT, Teller DY, Motulsky AG and Deeb
            SS.
  TITLE     Defective colour vision associated with a missense mutation in the
            human green visual pigment gene
  JOURNAL   Nat Genet 1 (4), 251-256 (1992)
   PUBMED   1302020
REFERENCE   9  (bases 1 to 1261)
  AUTHORS   Nathans,J., Thomas,D. and Hogness,D.S.
  TITLE     Molecular genetics of human color vision: the genes encoding blue,
            green, and red pigments
  JOURNAL   Science 232 (4747), 193-202 (1986)
   PUBMED   2937147
REFERENCE   10  (bases 1 to 1261)
  AUTHORS   Applebury,M.L. and Hargrave,P.A.
  TITLE     Molecular biology of the visual pigments
  JOURNAL   Vision Res 26 (12), 1881-1895 (1986)
   PUBMED   3303660
  REMARK    Review article
COMMENT     ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369929.8/ ENSP00000358945.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC244097.3.
            On Nov 20, 2020 this sequence version replaced NM_001048181.2.
            Summary: This gene encodes for a light absorbing visual pigment of
            the opsin gene family. The encoded protein is called green cone
            photopigment or medium-wavelength sensitive opsin. Opsins are
            G-protein coupled receptors with seven transmembrane domains, an
            N-terminal extracellular domain, and a C-terminal cytoplasmic
            domain. The long-wavelength opsin gene and multiple copies of the
            medium-wavelength opsin gene are tandemly arrayed on the X
            chromosome and frequent unequal recombination and gene conversion
            may occur between these sequences. X chromosomes may have fusions
            of the medium- and long-wavelength opsin genes or may have more
            than one copy of these genes. Defects in this gene are the cause of
            deutanopic colorblindness. [provided by RefSeq, Mar 2009].
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1261
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1261
                     /gene="OPN1MW2"
                     /gene_synonym="GOP"
                     /note="opsin 1, medium wave sensitive 2"
                     /db_xref="GeneID:728458"
                     /db_xref="HGNC:HGNC:26952"
     CDS             61..1155
                     /gene="OPN1MW2"
                     /gene_synonym="GOP"
                     /note="green-sensitive opsin; green cone photoreceptor
                     pigment; opsin 1 (cone pigments), medium-wave-sensitive 2;
                     opsin 1 cone pigments medium-wave-sensitive 2"
                     /codon_start=1
                     /product="medium-wave-sensitive opsin 1"
                     /protein_id="NP_001041646.1"
                     /db_xref="CCDS:CCDS35447.1"
                     /db_xref="GeneID:728458"
                     /db_xref="HGNC:HGNC:26952"
                     /translation="MAQQWSLQRLAGRHPQDSYEDSTQSSIFTYTNSNSTRGPFEGPNY
                     HIAPRWVYHLTSVWMIFVVIASVFTNGLVLAATMKFKKLRHPLNWILVNLAVADLAETV
                     IASTISVVNQVYGYFVLGHPMCVLEGYTVSLCGITGLWSLAIISWERWMVVCKPFGNVR
                     FDAKLAIVGIAFSWIWAAVWTAPPIFGWSRYWPHGLKTSCGPDVFSGSSYPGVQSYMIV
                     LMVTCCITPLSIIVLCYLQVWLAIRAVAKQQKESESTQKAEKEVTRMVVVMVLAFCFCW
                     GPYAFFACFAAANPGYPFHPLMAALPAFFAKSATIYNPVIYVFMNRQFRNCILQLFGKK
                     VDDGSELSSASKTEVSSVSSVSPA"
     misc_feature    61..129
                     /gene="OPN1MW2"
                     /gene_synonym="GOP"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    109..189
                     /gene="OPN1MW2"
                     /gene_synonym="GOP"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     Region: Required for 11-cis-retinal regeneration.
                     /evidence=ECO:0000269|PubMed:30948514"
     misc_feature    160..162
                     /gene="OPN1MW2"
                     /gene_synonym="GOP"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:28402104; propagated from
                     UniProtKB/Swiss-Prot (P04001.1); glycosylation site"
     misc_feature    217..291
                     /gene="OPN1MW2"
                     /gene_synonym="GOP"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     transmembrane region"
     misc_feature    328..405
                     /gene="OPN1MW2"
                     /gene_synonym="GOP"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     transmembrane region"
     misc_feature    448..507
                     /gene="OPN1MW2"
                     /gene_synonym="GOP"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     transmembrane region"
     misc_feature    565..636
                     /gene="OPN1MW2"
                     /gene_synonym="GOP"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     transmembrane region"
     misc_feature    715..798
                     /gene="OPN1MW2"
                     /gene_synonym="GOP"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     transmembrane region"
     misc_feature    865..936
                     /gene="OPN1MW2"
                     /gene_synonym="GOP"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     transmembrane region"
     misc_feature    961..1035
                     /gene="OPN1MW2"
                     /gene_synonym="GOP"
                     /note="propagated from UniProtKB/Swiss-Prot (P04001.1);
                     transmembrane region"
ORIGIN
        1 cgtgaccctc aggtgacgca ccagggccgg ctgccgtcgg ggacagggct ttccatagcc
       61 atggcccagc agtggagcct ccaaaggctc gcaggccgcc atccgcagga cagctatgag
      121 gacagcaccc agtccagcat cttcacctac accaacagca actccaccag aggccccttc
      181 gaaggcccga attaccacat cgctcccaga tgggtgtacc acctcaccag tgtctggatg
      241 atctttgtgg tcattgcatc cgtcttcaca aatgggcttg tgctggcggc caccatgaag
      301 ttcaagaagc tgcgccaccc gctgaactgg atcctggtga acctggcggt cgctgacctg
      361 gcagagaccg tcatcgccag cactatcagc gttgtgaacc aggtctatgg ctacttcgtg
      421 ctgggccacc ctatgtgtgt cctggagggc tacaccgtct ccctgtgtgg gatcacaggt
      481 ctctggtctc tggccatcat ttcctgggag agatggatgg tggtctgcaa gccctttggc
      541 aatgtgagat ttgatgccaa gctggccatc gtgggcattg ccttctcctg gatctgggct
      601 gctgtgtgga cagccccgcc catctttggt tggagcaggt actggcccca cggcctgaag
      661 acttcatgcg gcccagacgt gttcagcggc agctcgtacc ccggggtgca gtcttacatg
      721 attgtcctca tggtcacctg ctgcatcacc ccactcagca tcatcgtgct ctgctacctc
      781 caagtgtggc tggccatccg agcggtggca aagcagcaga aagagtctga atccacccag
      841 aaggcagaga aggaagtgac gcgcatggtg gtggtgatgg tcctggcatt ctgcttctgc
      901 tggggaccct acgccttctt cgcatgcttt gctgctgcca accctggcta ccccttccac
      961 cctttgatgg ctgccctgcc ggccttcttt gccaaaagtg ccactatcta caaccccgtt
     1021 atctatgtct ttatgaaccg gcagtttcga aactgcatct tgcagctttt cgggaagaag
     1081 gttgacgatg gctctgaact ctccagcgcc tccaaaacgg aggtctcatc tgtgtcctcg
     1141 gtatcgcctg catgaggtct gcctcctacc catcccgccc accggggctt tggccacctc
     1201 tcctttcccc ctccttctcc atccctgtaa aataaatgta atttatcttt gccaaaacca
     1261 a
//
LOCUS       NM_001048183            6048 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript
            variant 1, mRNA.
ACCESSION   NM_001048183
VERSION     NM_001048183.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6048)
  AUTHORS   Solimini NL, Liang AC, Xu C, Pavlova NN, Xu Q, Davoli T, Li MZ, Wong
            KK and Elledge SJ.
  TITLE     STOP gene Phactr4 is a tumor suppressor
  JOURNAL   Proc Natl Acad Sci U S A 110 (5), E407-E414 (2013)
   PUBMED   23319639
  REMARK    GeneRIF: Data indicate that Phactr4 acts as a tumor suppressor that
            is deleted and mutant in several cancers.
REFERENCE   2  (bases 1 to 6048)
  AUTHORS   Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J,
            Cohn MA, Cantley LC and Gygi SP.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   3  (bases 1 to 6048)
  AUTHORS   Allen PB, Greenfield AT, Svenningsson P, Haspeslagh DC and Greengard
            P.
  TITLE     Phactrs 1-4: A family of protein phosphatase 1 and actin regulatory
            proteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (18), 7187-7192 (2004)
   PUBMED   15107502
  REMARK    GeneRIF: The authors show that rat Phactr1 inhibits PP1 activity in
            vitro, and mouse Phactr4 coimmunoprecipitates with actin and PP1 in
            human cells.
REFERENCE   4  (bases 1 to 6048)
  AUTHORS   Sagara J, Higuchi T, Hattori Y, Moriya M, Sarvotham H, Shima H,
            Shirato H, Kikuchi K and Taniguchi S.
  TITLE     Scapinin, a putative protein phosphatase-1 regulatory subunit
            associated with the nuclear nonchromatin structure
  JOURNAL   J Biol Chem 278 (46), 45611-45619 (2003)
   PUBMED   12925532
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CR749449.1, BC029266.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000373839.8/ ENSP00000362945.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL670471.4 and CR391992.6.
            On Nov 23, 2018 this sequence version replaced NM_001048183.2.
            Summary: This gene encodes a member of the phosphatase and actin
            regulator (PHACTR) family. Other PHACTR family members have been
            shown to inhibit protein phosphatase 1 (PP1) activity, and the
            homolog of this gene in the mouse has been shown to interact with
            actin and PP1. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2008].
            Transcript Variant: This variant (1) encodes isoform 1.Variants 1
            and 5 encode the same protein (isoform 1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6048
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.3"
     gene            1..6048
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="phosphatase and actin regulator 4"
                     /db_xref="GeneID:65979"
                     /db_xref="HGNC:HGNC:25793"
                     /db_xref="MIM:608726"
     misc_feature    62..64
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="upstream in-frame stop codon"
     CDS             125..2233
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein phosphatase 1, regulatory subunit 124"
                     /codon_start=1
                     /product="phosphatase and actin regulator 4 isoform 1"
                     /protein_id="NP_001041648.1"
                     /db_xref="CCDS:CCDS41293.1"
                     /db_xref="GeneID:65979"
                     /db_xref="HGNC:HGNC:25793"
                     /db_xref="MIM:608726"
                     /translation="MEDPFEEADQPTTEPGMVLDSVEAGDTTPPTKRKSKFSGFGKIFK
                     PWKWRKKKSSDKFKETSEVLERKISMRKPREELVKRGVLLEDPEQGGEDPGKPSDAMLK
                     NGHTTPIGNARSSSPVQVEEEPVRLASLRKAIPEEDLKKRLGSTGSQPNSEAESVPENV
                     PKPPLLPPKRPLSSSHEASEGQAKDATSSGGTARFIISTSITTAPAATTAATSLAKTVN
                     LSVTPSPAPRTLPAAPASTNTTATPSLTHMVPAKQPPIPPPKPAHRNSNPVIAELSQAI
                     NSGTLLSKPSPPLPPKRGIPSTSVPTLESAAAITTKTPSDEREKSTCSMGSELLPMISP
                     RSPSPPLPTHIPPEPPRTPPFPAKTFQVVPEIEFPPSLDLHQEIPQQEDQKKEVPKRIL
                     DQNFGEPHIPSRLPPLPLHIRIQQALTSPLPMTPILEGSHRAHSLLFENSDSFSEDSST
                     LGRTRSLPITIEMLKVPDDEEEEEQTCPSTFSEEMTPTSVIPKLPQCLREEEEKESDSD
                     SEGPIQYRDEEDEDESYQSALANKVKRKDTLAMKLNHRPSEPELNLNSWPCKSKEEWNE
                     IRHQIGNTLIRRLSQRPTPEELEQRNILQPKNEADRQAEKREIKRRLTRKLSQRPTVAE
                     LLARKILRFNEYVEVTDAQDYDRRADKPWTKLTPADKAAIRKELNEFKSSEMEVHEESK
                     HFTRYHRP"
     misc_feature    125..235
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZ21.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    311..388
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZ21.1);
                     Region: RPEL 1"
     misc_feature    338..706
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZ21.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    470..472
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q501J7; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    476..478
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    515..517
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    563..565
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    788..1213
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZ21.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    932..934
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q501J7; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    995..997
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    1148..1150
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    1154..1156
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    1196..1198
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    1403..1405
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    1418..1420
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    1451..1453
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    1481..1483
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q501J7; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    1514..1516
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    1529..1732
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZ21.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1664..1666
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q501J7; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    1670..1672
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q501J7; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    1793..1795
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    1871..1948
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZ21.1);
                     Region: RPEL 2"
     misc_feature    1892..1894
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8IZ21.1); phosphorylation site"
     misc_feature    1898..1969
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZ21.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1985..2062
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IZ21.1);
                     Region: RPEL 3"
     misc_feature    2006..2008
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8IZ21.1);
                     phosphorylation site"
     regulatory      5974..5979
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="hexamer: AATAAA"
     polyA_site      5992
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
     regulatory      6019..6024
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="hexamer: ATTAAA"
     polyA_site      6048
                     /gene="PHACTR4"
                     /gene_synonym="PPP1R124"
                     /note="major polyA site"
ORIGIN
        1 cggctgctgc ctggcggcca acgggccagg taggatttcc gggagaggct gctgtggagg
       61 ctgaggaggc ggcggcggag atctggaaac agtatctcac ctccctaaac tggttaatag
      121 tggcatggaa gatccatttg aggaagcaga ccagcccact acagagccag gcatggtcct
      181 ggacagtgtg gaagcaggag acacaacacc tcctaccaaa aggaagagca agttctcagg
      241 ctttggcaag atcttcaagc cctggaaatg gaggaaaaaa aaaagtagtg ataaatttaa
      301 agagacttca gaagttttag aacggaaaat atctatgcga aagccaagag aagagctggt
      361 taaaagaggg gttctgttgg aagaccctga gcaaggtggt gaggatccag gaaagccaag
      421 cgatgccatg ttaaagaatg gccataccac ccccataggg aatgccagat catctagtcc
      481 agtccaagta gaggaagagc cagtaagatt agcaagtctt aggaaagcta ttccagaaga
      541 ggacctaaag aaacgactag gctcaactgg aagccagcct aattctgaag cagagtctgt
      601 tcctgagaat gtacccaaac cacctttact tcctcccaaa agacccttgt cctcttctca
      661 tgaagcaagt gaagggcaag caaaggatgc cacttcctct ggcggcacgg caaggttcat
      721 catctccacc tccatcacca cagcacccgc tgccaccact gctgccacaa gccttgcaaa
      781 gactgttaat ctctctgtca ccccttcccc agcacccagg actctgcctg ctgctcctgc
      841 cagcactaac actactgcta ccccaagcct cactcatatg gtccctgcca agcagccccc
      901 tatccctccc cctaaaccag ctcacagaaa tagcaaccct gtcattgctg aactgtccca
      961 agcaataaac agtggtacat tgttatcaaa accgtcccca cccttaccac ctaagagagg
     1021 cattccatca acctcagtac ccaccttgga gtctgctgct gccatcacca caaaaacacc
     1081 aagtgatgaa agagagaaga gcacgtgttc tatgggctcg gaactactac caatgatctc
     1141 acctcgctct ccgtcccccc cactgcctac tcatatacct ccagagcctc cacgcacccc
     1201 tccattccct gctaagactt ttcaagttgt gccagaaatt gagtttccac catccttaga
     1261 tctacaccag gagattcccc agcaggaaga tcagaaaaag gaagtcccca agaggatact
     1321 ggaccagaac tttggggagc cccatatacc ctctaggctg cctccactcc cactgcatat
     1381 tcgaatccag caggccctca ccagcccact tcccatgact cctattctgg agggttctca
     1441 cagagctcat tcgttgcttt ttgaaaacag tgacagcttt tctgaggaca gcagtacgct
     1501 gggtcggacc aggtctcttc ccatcactat tgaaatgcta aaagttccag acgatgaaga
     1561 agaagaggag caaacctgtc catccacatt cagtgaagaa atgacaccta cctcagtcat
     1621 tcctaaatta ccacagtgtc tacgggagga agaagagaag gagagcgact ctgattcaga
     1681 aggtcccatt cagtaccgag atgaagaaga tgaagatgaa agctatcaga gtgctctcgc
     1741 caacaaagtg aagaggaaag acacactggc aatgaagttg aaccacagac ccagtgaacc
     1801 agagttgaac ctgaattctt ggccttgtaa aagcaaggag gagtggaatg aaatacggca
     1861 ccagattgga aacacactga tccggcgact gagtcaaaga ccaacaccag aagaactaga
     1921 acaacgcaat atattgcaac ctaaaaatga agctgatcgt caggcagaaa aacgagaaat
     1981 taaacgtcgg ctcactagaa agctcagtca aaggccaact gtcgctgaac tccttgccag
     2041 gaagattctg aggtttaatg aatatgtaga ggtaacagat gctcaagatt atgaccggcg
     2101 agccgacaaa ccttggacca aactgacccc tgctgacaag gctgccataa gaaaagaatt
     2161 aaatgaattt aaaagctccg agatggaggt tcatgaagag agcaaacatt ttacacgcta
     2221 ccatcgtcca tgatgccaaa ggttgagaga ggaatcaaca tggctgcttt gctgcttcct
     2281 tctccaaagt gacatatgga gggaacttta gcacttccca gcacagccag aattgcatcc
     2341 tctgggatct tctgaggtgg acagcacttt gaatgtagca tttcactgga acagagtctt
     2401 atgtgctgca ccgggggcaa aacaacactt tgtcagtgct tttgaacctt tcaatattgt
     2461 agcatgcttg aggagttttt cccttactgg ccaccaaagt tctgaaccac ttgcaggttc
     2521 caggttttac tggctgcacc acaccccttc ccctagatga ctgcctgtgc agagacacag
     2581 tttgcaccat tagccttacc tgccctgccc tgattgtgag acccaaatgt gtaggctcta
     2641 aattccagcc atcaaatcca attcctggtg gggaaaacct tctggagacc cccaaccttc
     2701 tgataaaaga gtctctacct ccagggaaag ccttcttacc acactggcat atcagatgaa
     2761 agcattgcac tgtacctctc gtaacacagc aatacagtcc tcttgaggca ctcaagcctg
     2821 agaggaagct caggatctga catgttcttc cttttcctca caagtcatca tgatttttta
     2881 ttttaaaata atctggaagt aatgggaact tagtttttcc tgaactccaa ccagaatcca
     2941 aattggttag atgaggccag gcgcggtggc tcacgcctgt aatcccagca ctttgggagg
     3001 ccgaggtggg tggatcacct gaggtcagga gttcaagacc agcctggcca acatggtgaa
     3061 accccatctc tactaaaaat acaaaaatta gccaggtgtg gtggcgcctg gttgaggcat
     3121 gagaatcgct tgaacccagg aggtggaggt tgcagtgagc caagatcatg cctactgcac
     3181 tccagcctgg gcaacaaagt gggactctgt cttaaaaaaa aaaaaaaaaa aaaaatcggt
     3241 tagatgagaa agcatgtata ttttctatat acaaaaacaa gaaaggcgtt ttgagcccct
     3301 gtgctcaggc ccactcccac actgtggagt gtactttcat tttcaataaa tccccttatt
     3361 ccttccttgc aaaaaaaaaa aaaaaaaaag ccttagccag attcagtggc tcacgcctgt
     3421 aatcccaaca ctttgggagg ctgaggcggg tggatcacct gagttcagga gttcaagacc
     3481 agcctggcca acatggcaaa accctgtctc tactaaaaag taaaaaaaat tagccgggca
     3541 tggtggcttg tgccttgtag tcccagccac tggggaggct gaggcgggag aattgcttga
     3601 acctgggagg tggagattgc agtgagccga gatcgcgcca ctgcactcca gcctgggtga
     3661 cagagcgaga ctccgtctca aaaaaaaaaa aaaagcctta atattaatgc taacgtggca
     3721 gaaaactagc aggttacatt ttataggcta ttgtagtttt atttaccaaa tgatattctc
     3781 taaatcactt cgaccaataa atgtattctc ctccttaaag cagagttgta tcaactctgt
     3841 gggagcattt atgagctgtc agtccccaca cttctagcca gaatcacaat aaggtctggc
     3901 tgggtgtggg gtgctgcata ggaaagggtc tctggagaag caagaagggc acaatcatgg
     3961 cccactgctc ccctcttctt ctcagtgctc tttgccctct cctgctgcgt gcttcctctt
     4021 cactccagtg ctgatcctcc tgctctctct ggcagcttcc acctcacccg cccctcttcc
     4081 acactataac cagtatggtt ggtgctgggg cattgactca gcccccctgc tttctgcatt
     4141 tgtaatagat attaatatga tttcctaaaa cagaagattt tgttgctttc tttgaacttg
     4201 tattgaaaac catacagtct cactgttttg ctttaattcc tatccacact ataaatggaa
     4261 gaaaaaaatt aatagcttct gtttaatctg atgaatgtgg ctttttttcc cttcacttta
     4321 atgttcaaga agttgtggct atttcataga tttcttctga tttattctgt gggtccctgt
     4381 tatctgttct ttatgtaatc tttcagtaga ttttcatcct ttcatatcca cattcttatg
     4441 tggacttgct gaagaaacag aatatcagtt caaaacaaaa cctaggccag gcatggtggt
     4501 tcacgcctat aatctcagca ctttgggaag ccaaggcggt caggagtttg agaccagcct
     4561 gaccaacatg atgaaaccct gtctctacta aaaatacaaa aattagcctg gcgtggtggc
     4621 acgcatctgt aatcccaact actcaggacg ctgaggcagg agagtcgctt gaacccagga
     4681 ggcggagatt gcagtgagcc aagattgcac cactgcactc cagcctgggc aacagagcga
     4741 gactccatca aaaaaaaaaa aaaaaaagaa ggaaggaagg aaagcaagcc ctgaatccac
     4801 atctccttga agtttttttt gttttatttt gtttttgaga cagaattttg ctcttgttgc
     4861 ccaggccgga gtgcaatggt gcaatctcag ctcactgcaa cctccgcctc ccgggttgag
     4921 gcgattctcc tacctcagcc tcccaagtag ctaggattac aggcatgagc caccacgcct
     4981 ggctaatttt atatttctag tagagatgag gtttctccat gttggtcagg ctggtctcaa
     5041 actcccgacc tcaggtgatc cacccacctc agcctcccaa agtggtggga ttacaggcat
     5101 gagccaccgt gccgagcctt ccttgaagtt ttttgtttgg ttttgatttg ttttgttttg
     5161 ttttgttttg ttttgttttt ggagataggg tctcactctg ttacccatgc tggagtgcag
     5221 tggcacaatc ttggctcaga gcaacctctg cctcccaggc tcaagcaatc ctcccacttc
     5281 agtctaagta gctgggacta caggcacgtg ccaccaggcc cagctaattt ttgtgttttg
     5341 ttagagatga ggttttgcca tattgcccag gctcgtcttg aacaccgggg ctcaaggaat
     5401 ctgcccatct tcgcctccca aagttctgag atagcaggtg tgagtcatca tgcccagcct
     5461 ccttgaagtt tactaacaat tgggataact gagggaagag aagtgacaat tccactcagt
     5521 ctattagagg tctggatata aggtagccac acaataactc taacttgact tctaaccatt
     5581 ctatcttatt gatttggagg ctgtcttctg ccagattttt tgtggcttga gatgatattt
     5641 tcgaaccctt ctttcactac ctttcttacc cttaatgtgc caagcttgaa acaggatttg
     5701 atttcctgag ctacttgttc gccttctgtg cgtcaccaag taatctggtt catctttcgt
     5761 ctcattcatg ttattttcaa gtgaaacaag acattttggg ggtcaagtct ctttgggtgt
     5821 tttgttttta tgtatataaa aatggatttt gtgttccctt tccatgtaag taccaactta
     5881 tatggaaact cacaatcata atgtaaagaa gaaatgaaag cctggtgtat tgtacttcaa
     5941 gatgcctccc tgatgtatag aatctccttg taaaataaat aattgcattg tatatcagtc
     6001 ttctcatcaa tattaattat taaatatttt agaattttta aataccaa
//
LOCUS       NM_001048201            3898 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens ubiquitin like with PHD and ring finger domains 1
            (UHRF1), transcript variant 1, mRNA.
ACCESSION   NM_001048201
VERSION     NM_001048201.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3898)
  AUTHORS   Irwin RE, Scullion C, Thursby SJ, Sun M, Thakur A, Hilman L,
            Callaghan B, Thompson PD, McKenna DJ, Rothbart SB, Xu G and Walsh
            CP.
  TITLE     The UHRF1 protein is a key regulator of retrotransposable elements
            and innate immune response to viral RNA in human cells
  JOURNAL   Epigenetics 18 (1), 2216005 (2023)
   PUBMED   37246786
  REMARK    GeneRIF: The UHRF1 protein is a key regulator of retrotransposable
            elements and innate immune response to viral RNA in human cells.
REFERENCE   2  (bases 1 to 3898)
  AUTHORS   Qi X, Liu Y, Peng Y, Fu Y, Fu Y, Yin L and Li X.
  TITLE     UHRF1 promotes spindle assembly and chromosome congression by
            catalyzing EG5 polyubiquitination
  JOURNAL   J Cell Biol 222 (11) (2023)
   PUBMED   37728657
  REMARK    GeneRIF: UHRF1 promotes spindle assembly and chromosome congression
            by catalyzing EG5 polyubiquitination.
REFERENCE   3  (bases 1 to 3898)
  AUTHORS   Choudalakis M, Kungulovski G, Mauser R, Bashtrykov P and Jeltsch A.
  TITLE     Refined read-out: The hUHRF1 Tandem-Tudor domain prefers binding to
            histone H3 tails containing K4me1 in the context of H3K9me2/3
  JOURNAL   Protein Sci 32 (9), e4760 (2023)
   PUBMED   37593997
  REMARK    GeneRIF: Refined read-out: The hUHRF1 Tandem-Tudor domain prefers
            binding to histone H3 tails containing K4me1 in the context of
            H3K9me2/3.
REFERENCE   4  (bases 1 to 3898)
  AUTHORS   Fang T, Jiao Z, You Y, Cao J, Wang C, Liu J and Zhao W.
  TITLE     Lenvatinib inhibited HCC cell migration and invasion through
            regulating the transcription and ubiquitination of UHRF1 and DNMT1
  JOURNAL   Biochem Pharmacol 210, 115489 (2023)
   PUBMED   36893815
  REMARK    GeneRIF: Lenvatinib inhibited HCC cell migration and invasion
            through regulating the transcription and ubiquitination of UHRF1 and
            DNMT1.
REFERENCE   5  (bases 1 to 3898)
  AUTHORS   Bronner C, Krifa M and Mousli M.
  TITLE     Increasing role of UHRF1 in the reading and inheritance of the
            epigenetic code as well as in tumorogenesis
  JOURNAL   Biochem Pharmacol 86 (12), 1643-1649 (2013)
   PUBMED   24134914
  REMARK    GeneRIF: reviews the principles how UHRF1 acts as an epigenetic
            reader and discusses the properties of UHRF1 to be a biomarker as
            well as a therapeutic target Review article
REFERENCE   6  (bases 1 to 3898)
  AUTHORS   Muto M, Fujimori A, Nenoi M, Daino K, Matsuda Y, Kuroiwa A, Kubo E,
            Kanari Y, Utsuno M, Tsuji H, Ukai H, Mita K, Takahagi M and Tatsumi
            K.
  TITLE     Isolation and Characterization of a Novel Human Radiosusceptibility
            Gene, NP95
  JOURNAL   Radiat Res 166 (5), 723-733 (2006)
   PUBMED   17067204
  REMARK    GeneRIF: These findings collectively indicate that the human NP95
            gene is the functional orthologue of the murine Np95 gene.
REFERENCE   7  (bases 1 to 3898)
  AUTHORS   Citterio E, Papait R, Nicassio F, Vecchi M, Gomiero P, Mantovani R,
            Di Fiore PP and Bonapace IM.
  TITLE     Np95 is a histone-binding protein endowed with ubiquitin ligase
            activity
  JOURNAL   Mol Cell Biol 24 (6), 2526-2535 (2004)
   PUBMED   14993289
REFERENCE   8  (bases 1 to 3898)
  AUTHORS   Mousli M, Hopfner R, Abbady AQ, Monte D, Jeanblanc M, Oudet P, Louis
            B and Bronner C.
  TITLE     ICBP90 belongs to a new family of proteins with an expression that
            is deregulated in cancer cells
  JOURNAL   Br J Cancer 89 (1), 120-127 (2003)
   PUBMED   12838312
  REMARK    GeneRIF: ICBP90 expression altered in cancer cell lines and
            upregulated by E2F-1 overexpression, with efficiency depending on
            cancer status of cell line
REFERENCE   9  (bases 1 to 3898)
  AUTHORS   Hopfner R, Mousli M, Garnier JM, Redon R, du Manoir S, Chatton B,
            Ghyselinck N, Oudet P and Bronner C.
  TITLE     Genomic structure and chromosomal mapping of the gene coding for
            ICBP90, a protein involved in the regulation of the topoisomerase
            IIalpha gene expression
  JOURNAL   Gene 266 (1-2), 15-23 (2001)
   PUBMED   11290415
REFERENCE   10  (bases 1 to 3898)
  AUTHORS   Hopfner R, Mousli M, Jeltsch JM, Voulgaris A, Lutz Y, Marin C,
            Bellocq JP, Oudet P and Bronner C.
  TITLE     ICBP90, a novel human CCAAT binding protein, involved in the
            regulation of topoisomerase IIalpha expression
  JOURNAL   Cancer Res 60 (1), 121-128 (2000)
   PUBMED   10646863
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK074377.1, SRR1660805.49607.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000650932.1/ ENSP00000498698.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK314579.1, AK289389.1,
            AK074377.1, AC104525.4 and AK025578.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 24, 2018 this sequence version replaced NM_001048201.2.
            Summary: This gene encodes a member of a subfamily of RING-finger
            type E3 ubiquitin ligases. The protein binds to specific DNA
            sequences, and recruits a histone deacetylase to regulate gene
            expression. Its expression peaks at late G1 phase and continues
            during G2 and M phases of the cell cycle. It plays a major role in
            the G1/S transition by regulating topoisomerase IIalpha and
            retinoblastoma gene expression, and functions in the p53-dependent
            DNA damage checkpoint. It is regarded as a hub protein for the
            integration of epigenetic information. This gene is up-regulated in
            various cancers, and it is therefore considered to be a therapeutic
            target. Multiple transcript variants encoding different isoforms
            have been found for this gene. A related pseudogene exists on
            chromosome 12. [provided by RefSeq, Feb 2014].
            Transcript Variant: This variant (1) encodes the shorter isoform
            (1). Variants 1, 3, 4 and 5 all encode isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3898
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..3898
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="ubiquitin like with PHD and ring finger domains 1"
                     /db_xref="GeneID:29128"
                     /db_xref="HGNC:HGNC:12556"
                     /db_xref="MIM:607990"
     misc_feature    1
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="major transcription start site mapped in
                     PMID:11290415; the 5'-most transcription start site has not
                     yet been determined"
     CDS             166..2547
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 1;
                     inverted CCAAT box-binding protein of 90 kDa; nuclear zinc
                     finger protein Np95; RING finger protein 106; transcription
                     factor ICBP90; E3 ubiquitin-protein ligase UHRF1;
                     ubiquitin-like PHD and RING finger domain-containing
                     protein 1; nuclear phosphoprotein 95; nuclear protein 95;
                     RING-type E3 ubiquitin transferase UHRF1; inverted CCAAT
                     box binding protein 90"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase UHRF1 isoform 1"
                     /protein_id="NP_001041666.1"
                     /db_xref="CCDS:CCDS74263.1"
                     /db_xref="GeneID:29128"
                     /db_xref="HGNC:HGNC:12556"
                     /db_xref="MIM:607990"
                     /translation="MWIQVRTMDGRQTHTVDSLSRLTKVEELRRKIQELFHVEPGLQRL
                     FYRGKQMEDGHTLFDYEVRLNDTIQLLVRQSLVLPHSTKERDSELSDTDSGCCLGQSES
                     DKSSTHGEAAAETDSRPADEDMWDETELGLYKVNEYVDARDTNMGAWFEAQVVRVTRKA
                     PSRDEPCSSTSRPALEEDVIYHVKYDDYPENGVVQMNSRDVRARARTIIKWQDLEVGQV
                     VMLNYNPDNPKERGFWYDAEISRKRETRTARELYANVVLGDDSLNDCRIIFVDEVFKIE
                     RPGEGSPMVDNPMRRKSGPSCKHCKDDVNRLCRVCACHLCGGRQDPDKQLMCDECDMAF
                     HIYCLDPPLSSVPSEDEWYCPECRNDASEVVLAGERLRESKKKAKMASATSSSQRDWGK
                     GMACVGRTKECTIVPSNHYGPIPGIPVGTMWRFRVQVSESGVHRPHVAGIHGRSNDGAY
                     SLVLAGGYEDDVDHGNFFTYTGSGGRDLSGNKRTAEQSCDQKLTNTNRALALNCFAPIN
                     DQEGAEAKDWRSGKPVRVVRNVKGGKNSKYAPAEGNRYDGIYKVVKYWPEKGKSGFLVW
                     RYLLRRDDDEPGPWTKEGKDRIKKLGLTMQYPEGYLEALANREREKENSKREEEEQQEG
                     GFASPRTGKGKWKRKSAGGGPSRAGSPRRTSKKTKVEPYSLTAQQSSLIREDKSNAKLW
                     NEVLASLKDRPASGSPFQLFLSKVEETFQCICCQELVFRPITTVCQHNVCKDCLDRSFR
                     AQVFSCPACRYDLGRSYAMQVNQPLQTVLNQLFPGYGNGR"
     misc_feature    391..393
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q96T88.1);
                     phosphorylation site"
     misc_feature    409..537
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96T88.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    436..438
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96T88.1); phosphorylation site"
     misc_feature    448..450
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q7TPK1; propagated from
                     UniProtKB/Swiss-Prot (Q96T88.1); phosphorylation site"
     misc_feature    562..792
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96T88.1);
                     Region: Tudor-like 1"
     misc_feature    658..660
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VDF2; propagated from
                     UniProtKB/Swiss-Prot (Q96T88.1); phosphorylation site"
     misc_feature    811..1014
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96T88.1);
                     Region: Tudor-like 2"
     misc_feature    1024..1026
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96T88.1); phosphorylation site"
     misc_feature    1051..1068
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96T88.1);
                     Region: Linker"
     misc_feature    1057..1059
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000269|PubMed:15178447,
                     ECO:0000269|PubMed:22837395; propagated from
                     UniProtKB/Swiss-Prot (Q96T88.1); phosphorylation site"
     misc_feature    1111..1113
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Histone H3K4me0 binding; propagated from
                     UniProtKB/Swiss-Prot (Q96T88.1); other site"
     misc_feature    1144..1146
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Histone H3R2me0 binding; propagated from
                     UniProtKB/Swiss-Prot (Q96T88.1); other site"
     misc_feature    1153..1155
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Histone H3R2me0 binding; propagated from
                     UniProtKB/Swiss-Prot (Q96T88.1); other site"
     misc_feature    1162..1176
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96T88.1);
                     Region: Histone H3R2me0 binding"
     misc_feature    1222..1230
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96T88.1);
                     Region: Histone H3R2me0 binding"
     misc_feature    1267..1269
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96T88.1); phosphorylation site"
     misc_feature    1360..1362
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q96T88.1); acetylation site"
     misc_feature    1498..1503
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96T88.1);
                     Region: Required to promote base flipping.
                     /evidence=ECO:0000250"
     misc_feature    1561..1572
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96T88.1);
                     Region: Required for formation of a
                     5-methylcytosine-binding pocket"
     misc_feature    1597..1608
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96T88.1);
                     Region: Required for formation of a
                     5-methylcytosine-binding pocket"
     misc_feature    1600..1602
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Required to confer preferential recognition of
                     cytosine over thymine; propagated from UniProtKB/Swiss-Prot
                     (Q96T88.1); other site"
     misc_feature    1630..1632
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Required to discriminate between hemimethylated DNA
                     versus symmetrically methylated DNA; propagated from
                     UniProtKB/Swiss-Prot (Q96T88.1); other site"
     misc_feature    1636..1638
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Required for affinity and specificity for 5-mCpG
                     sequence; propagated from UniProtKB/Swiss-Prot (Q96T88.1);
                     other site"
     misc_feature    1801..1803
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q96T88.1); acetylation site"
     misc_feature    2017..2184
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96T88.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2080..2082
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:22411829,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q96T88.1);
                     phosphorylation site"
     misc_feature    2116..2118
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q96T88.1); phosphorylation site"
     misc_feature    2284..2286
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q96T88.1);
                     phosphorylation site"
     misc_feature    2290..2292
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96T88.1); phosphorylation site"
     regulatory      3876..3881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="hexamer: AATAAA"
     polyA_site      3898
                     /gene="UHRF1"
                     /gene_synonym="hNP95; hUHRF1; huNp95; ICBP90; Np95; RNF106;
                     TDRD22"
                     /note="major polyA site"
ORIGIN
        1 agagcagctg gcagcgcggc gggcagcgtt tgccgagcgg gcgctccggg tcgcacgcaa
       61 gtccgcgcgg ggtccgggcc acgcacgcgg tttcatcgcc atccccagcc gggccacgcg
      121 cgcaggcaga caagctgttc gcggcgaccg gagagcgccg acaccatgtg gatccaggtt
      181 cggaccatgg acgggaggca gacccacacg gtggactcgc tgtccaggct gaccaaggtg
      241 gaggagctga ggcggaagat ccaggagctg ttccacgtgg agccaggcct gcagaggctg
      301 ttctacaggg gcaaacagat ggaggacggc cataccctct tcgactacga ggtccgcctg
      361 aatgacacca tccagctcct ggtccgccag agcctcgtgc tcccccacag caccaaggag
      421 cgggactccg agctctccga caccgactcc ggctgctgcc tgggccagag tgagtcagac
      481 aagtcctcca cccacggtga ggcggccgcc gagactgaca gcaggccagc cgatgaggac
      541 atgtgggatg agacggaatt ggggctgtac aaggtcaatg agtacgtcga tgctcgggac
      601 acgaacatgg gggcgtggtt tgaggcgcag gtggtcaggg tgacgcggaa ggccccctcc
      661 cgggacgagc cctgcagctc cacgtccagg ccggcgctgg aggaggacgt catttaccac
      721 gtgaaatacg acgactaccc ggagaacggc gtggtccaga tgaactccag ggacgtccga
      781 gcgcgcgccc gcaccatcat caagtggcag gacctggagg tgggccaggt ggtcatgctc
      841 aactacaacc ccgacaaccc caaggagcgg ggcttctggt acgacgcgga gatctccagg
      901 aagcgcgaga ccaggacggc gcgggaactc tacgccaacg tggtgctggg ggatgattct
      961 ctgaacgact gtcggatcat cttcgtggac gaagtcttca agattgagcg gccgggtgaa
     1021 gggagcccca tggttgacaa ccccatgaga cggaagagcg ggccgtcctg caagcactgc
     1081 aaggacgacg tgaacagact ctgccgggtc tgcgcctgcc acctgtgcgg gggccggcag
     1141 gaccccgaca agcagctcat gtgcgatgag tgcgacatgg ccttccacat ctactgcctg
     1201 gacccgcccc tcagcagtgt tcccagcgag gacgagtggt actgccctga gtgccggaat
     1261 gatgccagcg aggtggtact ggcgggagag cggctgagag agagcaagaa gaaggcgaag
     1321 atggcctcgg ccacatcgtc ctcacagcgg gactggggca agggcatggc ctgtgtgggc
     1381 cgcaccaagg aatgtaccat cgtcccgtcc aaccactacg gacccatccc ggggatcccc
     1441 gtgggcacca tgtggcggtt ccgagtccag gtcagcgagt cgggtgtcca tcggccccac
     1501 gtggctggca tacacggccg gagcaacgac ggagcgtact ccctagtcct ggcggggggc
     1561 tatgaggatg atgtggacca tgggaatttt ttcacataca cgggtagtgg tggtcgagat
     1621 ctttccggca acaagaggac cgcggaacag tcttgtgatc agaaactcac caacaccaac
     1681 agggcgctgg ctctcaactg ctttgctccc atcaatgacc aagaaggggc cgaggccaag
     1741 gactggcggt cggggaagcc ggtcagggtg gtgcgcaatg tcaagggtgg caagaatagc
     1801 aagtacgccc ccgctgaggg caaccgctac gatggcatct acaaggttgt gaaatactgg
     1861 cccgagaagg ggaagtccgg gtttctcgtg tggcgctacc ttctgcggag ggacgatgat
     1921 gagcctggcc cttggacgaa ggaggggaag gaccggatca agaagctggg gctgaccatg
     1981 cagtatccag aaggctacct ggaagccctg gccaaccgag agcgagagaa ggagaacagc
     2041 aagagggagg aggaggagca gcaggagggg ggcttcgcgt cccccaggac gggcaagggc
     2101 aagtggaagc ggaagtcggc aggaggtggc ccgagcaggg ccgggtcccc gcgccggaca
     2161 tccaagaaaa ccaaggtgga gccctacagt ctcacggccc agcagagcag cctcatcaga
     2221 gaggacaaga gcaacgccaa gctgtggaat gaggtcctgg cgtcactcaa ggaccggccg
     2281 gcgagcggca gcccgttcca gttgttcctg agtaaagtgg aggagacgtt ccagtgtatc
     2341 tgctgtcagg agctggtgtt ccggcccatc acgaccgtgt gccagcacaa cgtgtgcaag
     2401 gactgcctgg acagatcctt tcgggcacag gtgttcagct gccctgcctg ccgctacgac
     2461 ctgggccgca gctatgccat gcaggtgaac cagcctctgc agaccgtcct caaccagctc
     2521 ttccccggct acggcaatgg ccggtgatct ccaagcactt ctcgacaggc gttttgctga
     2581 aaacgtgtcg gagggctcgt tcatcggcac tgattttgtt cttagtgggc ttaacttaaa
     2641 caggtagtgt ttcctccgtt ccctaaaaag gtttgtcttc cttttttttt ttatttttat
     2701 ttttcaaatc tatacatttt caggaattta tgtattctgg ctaaaagttg gacttctcag
     2761 tattgtgttt agttctttga aaacataaaa gcctgcaatt tctcgacaaa acaacacaag
     2821 attttttaaa gatggaatca gaaactacgt ggtgtggagg ctgttgatgt ttctggtgtc
     2881 aagttctcag aagttgctgc caccaactct ttaagaaggc gacaggatca gtccttctct
     2941 cgggttctgg cccccaaggt cagagcaagc atcttcctga cagcattttg tcatctaaag
     3001 tccagtgaca tggttccccg tggtggcccg tggcagcccg tggcatggcg tggctcagct
     3061 gtctgttgaa gttgttgcaa ggaaaagagg aaacatctcg ggcctagttc aaacctttgc
     3121 ctcaaagcca tcccccacca gactgcttag cgtctgagat ccgcgtgaaa agtcctctgc
     3181 ccacgagagc agggagttgg ggccacgcag aaatggcctc aaggggactc tgctccacgt
     3241 ggggccaggc gtgtgactga cgctgtccga cgaaggcggc cacggacgga cgccagcaca
     3301 cgaagtcacg tgcaagtgcc tttgattcgt tccttctttc taaagacgac agtctttgtt
     3361 gttagcactg aattattgaa aatgtcaacc agattctaga aactgcggtc atccagttct
     3421 tcctgacacc ggatgggtgc ttgggaaccg tttgagcctt atagatcatt tacattcaat
     3481 ttttttaact cagcaagtga gaacttacaa gagggttttt ttaaaatttt tttttctctt
     3541 aatgaacaca ttttctaaat gaattttttt tgtagttact gtatatgtac caagaaagat
     3601 ataacgttag ggtttggttg tttttgtttt tgtatttttt ttcttttgaa agggtttgtt
     3661 aatttttcta attttaccaa agtttgcagc ctatacctca ataaaacagg gatattttaa
     3721 atcacatacc tgcagacaaa ctggagcaat gttattttta aagggttttt ttcacctcct
     3781 tattcttaga ttattaatgt attagggaag aatgagacaa ttttgtgtag gctttttcta
     3841 aagtccagta ctttgtccag attttagatt ctcagaataa atgtttttca cagataga
//
LOCUS       NM_001048205            2276 bp    mRNA    linear   PRI 14-MAR-2023
DEFINITION  Homo sapiens REC8 meiotic recombination protein (REC8), transcript
            variant 2, mRNA.
ACCESSION   NM_001048205
VERSION     NM_001048205.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2276)
  AUTHORS   He S, Liu D and Chen Z.
  TITLE     REC8 inhibits proliferation, migration and invasion of breast cancer
            cells by targeting CDC20
  JOURNAL   Mol Med Rep 26 (1) (2022)
   PUBMED   35616161
  REMARK    GeneRIF: REC8 inhibits proliferation, migration and invasion of
            breast cancer cells by targeting CDC20.
REFERENCE   2  (bases 1 to 2276)
  AUTHORS   Tucker EJ, Bell KM, Robevska G, van den Bergen J, Ayers KL,
            Listyasari N, Faradz SM, Dulon J, Bakhshalizadeh S, Sreenivasan R,
            Nouyou B, Carre W, Akloul L, Duros S, Domin-Bernhard M,
            Belaud-Rotureau MA, Touraine P, Jaillard S and Sinclair AH.
  TITLE     Meiotic genes in premature ovarian insufficiency: variants in HROB
            and REC8 as likely genetic causes
  JOURNAL   Eur J Hum Genet 30 (2), 219-228 (2022)
   PUBMED   34707299
  REMARK    GeneRIF: Meiotic genes in premature ovarian insufficiency: variants
            in HROB and REC8 as likely genetic causes.
REFERENCE   3  (bases 1 to 2276)
  AUTHORS   Han J, Bai Y, Wang J, Xie XL, Li AD, Ding Q, Cui ZJ, Yin J, Jiang XY
            and Jiang HQ.
  TITLE     REC8 promotes tumor migration, invasion and angiogenesis by
            targeting the PKA pathway in hepatocellular carcinoma
  JOURNAL   Clin Exp Med 21 (3), 479-492 (2021)
   PUBMED   33677646
  REMARK    GeneRIF: REC8 promotes tumor migration, invasion and angiogenesis by
            targeting the PKA pathway in hepatocellular carcinoma.
REFERENCE   4  (bases 1 to 2276)
  AUTHORS   Hou H, Kyriacou E, Thadani R, Klutstein M, Chapman JH and Cooper JP.
  TITLE     Centromeres are dismantled by foundational meiotic proteins Spo11
            and Rec8
  JOURNAL   Nature 591 (7851), 671-676 (2021)
   PUBMED   33658710
  REMARK    GeneRIF: Centromeres are dismantled by foundational meiotic proteins
            Spo11 and Rec8.
REFERENCE   5  (bases 1 to 2276)
  AUTHORS   Liu M, Xu W, Su M and Fan P.
  TITLE     REC8 suppresses tumor angiogenesis by inhibition of
            NF-kappaB-mediated vascular endothelial growth factor expression in
            gastric cancer cells
  JOURNAL   Biol Res 53 (1), 41 (2020)
   PUBMED   32958054
  REMARK    GeneRIF: REC8 suppresses tumor angiogenesis by inhibition of
            NF-kappaB-mediated vascular endothelial growth factor expression in
            gastric cancer cells. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2276)
  AUTHORS   Xu H, Beasley MD, Warren WD, van der Horst GT and McKay MJ.
  TITLE     Absence of mouse REC8 cohesin promotes synapsis of sister chromatids
            in meiosis
  JOURNAL   Dev Cell 8 (6), 949-961 (2005)
   PUBMED   15935783
  REMARK    GeneRIF: The mouse ortholog of REC8L1 is required for proper
            synapsis of homologous chromosomes during meiosis
REFERENCE   7  (bases 1 to 2276)
  AUTHORS   Prieto I, Tease C, Pezzi N, Buesa JM, Ortega S, Kremer L, Martinez
            A, Martinez-A C, Hulten MA and Barbero JL.
  TITLE     Cohesin component dynamics during meiotic prophase I in mammalian
            oocytes
  JOURNAL   Chromosome Res 12 (3), 197-213 (2004)
   PUBMED   15125634
REFERENCE   8  (bases 1 to 2276)
  AUTHORS   Lee J, Iwai T, Yokota T and Yamashita M.
  TITLE     Temporally and spatially selective loss of Rec8 protein from meiotic
            chromosomes during mammalian meiosis
  JOURNAL   J Cell Sci 116 (Pt 13), 2781-2790 (2003)
   PUBMED   12759374
REFERENCE   9  (bases 1 to 2276)
  AUTHORS   Schleiffer A, Kaitna S, Maurer-Stroh S, Glotzer M, Nasmyth K and
            Eisenhaber F.
  TITLE     Kleisins: a superfamily of bacterial and eukaryotic SMC protein
            partners
  JOURNAL   Mol Cell 11 (3), 571-575 (2003)
   PUBMED   12667442
REFERENCE   10  (bases 1 to 2276)
  AUTHORS   Parisi S, McKay MJ, Molnar M, Thompson MA, van der Spek PJ, van
            Drunen-Schoenmaker E, Kanaar R, Lehmann E, Hoeijmakers JH and Kohli
            J.
  TITLE     Rec8p, a meiotic recombination and sister chromatid cohesion
            phosphoprotein of the Rad21p family conserved from fission yeast to
            humans
  JOURNAL   Mol Cell Biol 19 (5), 3515-3528 (1999)
   PUBMED   10207075
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1037182.1,
            SRR1163657.68861.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000611366.5/ ENSP00000482439.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB294585.1 and BC010887.1.
            On Nov 23, 2018 this sequence version replaced NM_001048205.1.
            Summary: This gene encodes a member of the kleisin family of SMC
            (structural maintenance of chromosome) protein partners. The
            protein localizes to the axial elements of chromosomes during
            meiosis in both oocytes and spermatocytes. In the mouse, the
            homologous protein is a key component of the meiotic cohesion
            complex, which regulates sister chromatid cohesion and
            recombination between homologous chromosomes. Multiple
            alternatively spliced variants, encoding the same protein, have
            been found for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2276
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     gene            1..2276
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /note="REC8 meiotic recombination protein"
                     /db_xref="GeneID:9985"
                     /db_xref="HGNC:HGNC:16879"
                     /db_xref="MIM:608193"
     misc_feature    456..458
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /note="upstream in-frame stop codon"
     CDS             474..2117
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /note="recombination and sister chromatid cohesion protein
                     homolog; human homolog of rad21, S. pombe; meiotic
                     recombination protein REC8-like 1; cohesion rec8p; meiotic
                     recombination and sister chromatid cohesion phosphoprotein
                     of the rad21p family; cohesin Rec8p; REC8 homolog;
                     kleisin-alpha"
                     /codon_start=1
                     /product="meiotic recombination protein REC8 homolog"
                     /protein_id="NP_001041670.1"
                     /db_xref="CCDS:CCDS41932.1"
                     /db_xref="GeneID:9985"
                     /db_xref="HGNC:HGNC:16879"
                     /db_xref="MIM:608193"
                     /translation="MFYYPNVLQRHTGCFATIWLAATRGSRLVKREYLRVNVVKTCEEI
                     LNYVLVRVQPPQPGLPRPRFSLYLSAQLQIGVIRVYSQQCQYLVEDIQHILERLHRAQL
                     QIRIDMETELPSLLLPNHLAMMETLEDAPDPFFGMMSVDPRLPSPFDIPQIRHLLEAAI
                     PERVEEIPPEVPTEPREPERIPVTVLPPEAITILEAEPIRMLEIEGERELPEVSRRELD
                     LLIAEEEEAILLEIPRLPPPAPAEVEGIGEALGPEELRLTGWEPGALLMEVTPPEELRL
                     PAPPSPERRPPVPPPPRRRRRRRLLFWDKETQISPEKFQEQLQTRAHCWECPMVQPPER
                     TIRGPAELFRTPTLSGWLPPELLGLWTHCAQPPPKALRRELPEEAAAEEERRKIEVPSE
                     IEVPREALEPSVPLMVSLEISLEAAEEEKSRISLIPPEERWAWPEVEAPEAPALPVVPE
                     LPEVPMEMPLVLPPELELLSLEAVHRAVALELQANREPDFSSLVSPLSPRRMAARVFYL
                     LLVLSAQQILHVKQEKPYGRLLIQPGPRFH"
     misc_feature    915..917
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8C5S7; propagated from
                     UniProtKB/Swiss-Prot (O95072.1); phosphorylation site"
     misc_feature    1305..1376
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /note="propagated from UniProtKB/Swiss-Prot (O95072.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2257..2262
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /note="hexamer: AACAAG"
     polyA_site      2276
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /note="major polyA site"
ORIGIN
        1 ctagtcctgc agtaggcggc ccggggccac accgcggccg cccaagccag tgcaaggccc
       61 aggggcctga catcgctccc agcgctcgag gaccgaggcc tgctgtggag gacaccgtgc
      121 tccctcggga cctgctctgg attccggccc ggacgtcccc ttggagctct gcatctccaa
      181 cctggaaccc aacccagaag tctcaagttt gacgcatcac gtggcgtgcg gatccactga
      241 gggtccacag agaggggcgc ccatctcctg cgtctcagtt atcctggtaa ttgtgtatct
      301 gcccattgtt cgttgcctca ttaacttggc tttctaggtg cacccacctt gccaccagag
      361 aagtccaaat cctgacttct ctccaaggtg ttgggaattc tgtgccctaa agaattccga
      421 ctcagatccg aacggggatc tggtggaatc gagggtgaaa gaccagaggg acaatgttct
      481 actatcccaa cgtgcttcag cgccacaccg gctgctttgc caccatctgg ctggcggcga
      541 ctcgcggcag ccggttggtg aagcgcgaat acctgagggt gaatgtggtg aaaacctgcg
      601 aggaaatcct caattacgtg ctggtacgag tgcaaccccc gcagcccggc ctgccgcggc
      661 cccgcttctc cctctatctc tcagcccaac ttcagatcgg tgtgatccgc gtctattctc
      721 aacaatgcca gtacctcgtg gaggacatcc agcacatctt ggagcgcctc caccgtgccc
      781 agctgcagat ccgaatagat atggagactg agctacccag cctgctgctt cctaaccacc
      841 tggccatgat ggagacccta gaagatgctc cagatccctt ttttgggatg atgtctgtgg
      901 atcccagact tcctagtcct ttcgatatcc ctcagattcg acacctctta gaggctgcaa
      961 tcccagagag agttgaagag atccctcctg aagttcctac agagcccagg gagccagaga
     1021 ggattccggt cactgtgctg ccacctgagg ccatcacgat cctggaggca gagcccatac
     1081 ggatgctgga gattgagggt gaacgggagc tcccagaggt cagccgccga gaactggacc
     1141 tgctgatcgc agaggaagaa gaagctatct tgttagaaat cccgcggctc ccacctccag
     1201 ctcctgcaga ggtggaagga ataggagagg cactgggtcc tgaggagctg aggctgacag
     1261 gctgggaacc tggggcccta ctcatggagg tgaccccccc ggaggagctg cgtctgccag
     1321 ccccacccag cccagagagg aggcccccag tccccccacc tcctcgccgc cgccgtcgtc
     1381 gccggttact gttctgggac aaggagactc agatctcccc ggagaaattc caggaacaac
     1441 tgcaaaccag agcccactgc tgggaatgtc ctatggtgca gccgcccgag aggaccatca
     1501 gaggccctgc ggagttgttc agaaccccaa ctctctctgg ctggctaccc cctgaactac
     1561 tgggtctctg gacccattgt gcccagccac ccccaaaagc cctcaggcga gagctgcctg
     1621 aggaggcagc cgctgaggag gaaaggagaa agattgaagt tccaagtgag attgaggtcc
     1681 cgagggaggc cctggagccc agtgttcccc ttatggtgtc tttagagatc tccctagagg
     1741 cagctgaaga ggagaagtcc cgcatcagcc tcatcccacc agaagaacgg tgggcctggc
     1801 ctgaggtgga ggcgccagaa gctcctgcat tgcccgtggt gcctgaactc cctgaggtgc
     1861 ccatggagat gcctttggtg ctgcccccag agctcgagct gctctcactg gaagcagtgc
     1921 acagggcagt ggcactggag ctgcaggcta acagggagcc cgacttcagc agcctggtgt
     1981 cacctctcag cccccgcagg atggctgccc gggtcttcta cctgctcctg gtgctctcag
     2041 cgcaacagat tcttcacgtg aaacaagaaa agccatatgg tcgcctcctg atccagccgg
     2101 ggcccagatt ccactgaggt tagagtccat ttacaaagct gccaggaaac cggccacttc
     2161 tagtaaacca cgtcgtgcct cactgggtcc tgcttacctc atttctgaat gtgcatttcc
     2221 agccttcttg ctctcagagc tattgttcaa gcagaaaaca agctgctttt attaca
//
LOCUS       NM_001048212            1374 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens cementum protein 1 (CEMP1), mRNA.
ACCESSION   NM_001048212
VERSION     NM_001048212.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1374)
  AUTHORS   Wang M, He M, Xu X, Wu Z, Tao J, Yin F, Luo K and Jiang J.
  TITLE     Cementum protein 1 gene-modified adipose-derived mesenchymal stem
            cell sheets enhance periodontal regeneration in osteoporosis rat
  JOURNAL   J Periodontal Res 58 (4), 755-768 (2023)
   PUBMED   37154214
  REMARK    GeneRIF: Cementum protein 1 gene-modified adipose-derived
            mesenchymal stem cell sheets enhance periodontal regeneration in
            osteoporosis rat.
REFERENCE   2  (bases 1 to 1374)
  AUTHORS   Rovai ES, Alves T, Gasparoni LM, Franca BN, Sipert CR, Kantarci A
            and Holzhausen M.
  TITLE     Protease-activated receptor type 1 (PAR1) increases CEMP1 gene
            expression through MAPK/ERK pathway
  JOURNAL   Braz Oral Res 36, e048 (2022)
   PUBMED   35442377
  REMARK    GeneRIF: Protease-activated receptor type 1 (PAR1) increases CEMP1
            gene expression through MAPK/ERK pathway. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 1374)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1374)
  AUTHORS   Arroyo R, Lopez S, Romo E, Montoya G, Hoz L, Pedraza C, Garfias Y
            and Arzate H.
  TITLE     Carboxy-Terminal Cementum Protein 1-Derived Peptide 4 (cemp1-p4)
            Promotes Mineralization through wnt/beta-catenin Signaling in Human
            Oral Mucosa Stem Cells
  JOURNAL   Int J Mol Sci 21 (4), 1307 (2020)
   PUBMED   32075221
  REMARK    GeneRIF: Carboxy-Terminal Cementum Protein 1-Derived Peptide 4
            (cemp1-p4) Promotes Mineralization through wnt/beta-catenin
            Signaling in Human Oral Mucosa Stem Cells. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 1374)
  AUTHORS   Diercke K, Konig A, Kohl A, Lux CJ and Erber R.
  TITLE     Human primary cementoblasts respond to combined IL-1beta stimulation
            and compression with an impaired BSP and CEMP-1 expression
  JOURNAL   Eur J Cell Biol 91 (5), 402-412 (2012)
   PUBMED   22349547
  REMARK    GeneRIF: human primary cementoblasts subjected to compression and
            IL-1beta stimulation impeded BSP and CEMP-1 expression, proteins
            that are associated with cementogenesis.
REFERENCE   6  (bases 1 to 1374)
  AUTHORS   Hoz L, Romo E, Zeichner-David M, Sanz M, Nunez J, Gaitan L, Mercado
            G and Arzate H.
  TITLE     Cementum protein 1 (CEMP1) induces differentiation by human
            periodontal ligament cells under three-dimensional culture
            conditions
  JOURNAL   Cell Biol Int 36 (2), 129-136 (2012)
   PUBMED   21929512
REFERENCE   7  (bases 1 to 1374)
  AUTHORS   Komaki M, Iwasaki K, Arzate H, Narayanan AS, Izumi Y and Morita I.
  TITLE     Cementum protein 1 (CEMP1) induces a cementoblastic phenotype and
            reduces osteoblastic differentiation in periodontal ligament cells
  JOURNAL   J Cell Physiol 227 (2), 649-657 (2012)
   PUBMED   21465469
  REMARK    GeneRIF: These data demonstrate for the first time that the CEMP1 is
            not only a marker protein for cementoblast-related cells, but it
            also regulates cementoblast commitment in periodontal ligament cells
REFERENCE   8  (bases 1 to 1374)
  AUTHORS   Villarreal-Ramirez E, Moreno A, Mas-Oliva J, Chavez-Pacheco JL,
            Narayanan AS, Gil-Chavarria I, Zeichner-David M and Arzate H.
  TITLE     Characterization of recombinant human cementum protein 1 (hrCEMP1):
            primary role in biomineralization
  JOURNAL   Biochem Biophys Res Commun 384 (1), 49-54 (2009)
   PUBMED   19393626
  REMARK    GeneRIF: CEMP1 plays a role during the biomineralization process by
            promoting octacalcium phosphate crystal nucleation.
REFERENCE   9  (bases 1 to 1374)
  AUTHORS   Carmona-Rodriguez B, Alvarez-Perez MA, Narayanan AS, Zeichner-David
            M, Reyes-Gasga J, Molina-Guarneros J, Garcia-Hernandez AL,
            Suarez-Franco JL, Chavarria IG, Villarreal-Ramirez E and Arzate H.
  TITLE     Human Cementum Protein 1 induces expression of bone and cementum
            proteins by human gingival fibroblasts
  JOURNAL   Biochem Biophys Res Commun 358 (3), 763-769 (2007)
   PUBMED   17509525
  REMARK    GeneRIF: CEMP1 might participate in differentiation and
            mineralization of nonosteogenic cells, and it might have a potential
            function in cementum and bone formation
REFERENCE   10  (bases 1 to 1374)
  AUTHORS   Alvarez-Perez MA, Narayanan S, Zeichner-David M, Rodriguez Carmona B
            and Arzate H.
  TITLE     Molecular cloning, expression and immunolocalization of a novel
            human cementum-derived protein (CP-23)
  JOURNAL   Bone 38 (3), 409-419 (2006)
   PUBMED   16263347
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AY584596.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000567119.1/ ENSP00000457380.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY584596.1.
            On Dec 7, 2010 this sequence version replaced NM_001048212.2.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1374
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1374
                     /gene="CEMP1"
                     /gene_synonym="CP-23; CP23"
                     /note="cementum protein 1"
                     /db_xref="GeneID:752014"
                     /db_xref="HGNC:HGNC:32553"
                     /db_xref="MIM:611113"
     misc_feature    327..329
                     /gene="CEMP1"
                     /gene_synonym="CP-23; CP23"
                     /note="upstream in-frame stop codon"
     CDS             336..1079
                     /gene="CEMP1"
                     /gene_synonym="CP-23; CP23"
                     /note="cementum protein 23"
                     /codon_start=1
                     /product="cementoblastoma-derived protein 1"
                     /protein_id="NP_001041677.1"
                     /db_xref="CCDS:CCDS42108.1"
                     /db_xref="GeneID:752014"
                     /db_xref="HGNC:HGNC:32553"
                     /db_xref="MIM:611113"
                     /translation="MGTSSTDSQQAGHRRCSTSNTSAENLTCLSLPGSPGKTAPLPGPA
                     QAGAGQPLPKGCAAVKAEVGIPAPHTSQEVRIHIRRLLSWAAPGACGLRSTPCALPQAL
                     PQARPCPGRWFFPGCSLPTGGAQTILSLWTWRHFLNWALQQREENSGRARRVPPVPRTA
                     PVSKGEGSHPPQNSNGEKVKTITPDVGLHQSLTSDPTVAVLRAKRAPEAHPPRSCSGSL
                     TARVCHMGVCQGQGDTEDGRMTLMG"
     misc_feature    336..491
                     /gene="CEMP1"
                     /gene_synonym="CP-23; CP23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    774..884
                     /gene="CEMP1"
                     /gene_synonym="CP-23; CP23"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6PRD7.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 ttacttttgt tatgtatttt accacaattt ttaaaaagca aaccaaaacc aaccaagagt
       61 gcttccccca cacctcaaaa tcatcctgca gcagctccct ggcccagctc tctctcaccc
      121 tgaccctggg cccctctccc accacccagg gctagccctg tggaccaacc atctctgcca
      181 gcccctcccc gaccctccag ccagggaggt ggggcgctgg ccggtgaatg gggcaggcca
      241 ggcccaaagg ctggcccagg gctcaccagc tctggactgg gcgtcccgtc tgaggtgggg
      301 atgaccaaca tgccagctct gggttttagc tgaggatggg cacatcaagc actgacagcc
      361 agcaagctgg gcacaggcga tgctcaacct ctaacacatc ggctgagaac ctcacctgcc
      421 tctccctgcc tgggagccct ggcaagacag ctcctctccc aggcccagca caggcaggcg
      481 ctggacagcc acttcctaag gggtgcgcgg ccgtcaaggc agaggtgggt atccctgcac
      541 ctcacacctc tcaggaggtc aggatccaca tccgtcgcct gctttcctgg gctgcccctg
      601 gggcttgtgg gctgagatca accccttgtg ccctgcccca ggccctccct caggcgaggc
      661 cctgcccagg caggtggttc ttccctggct gttcccttcc aacaggtggg gcccagacca
      721 tcctatctct ttggacctgg agacatttcc ttaactgggc tttgcagcag agggaagaga
      781 acagtggcag agccaggcgc gtacctcctg tgcccaggac agcacctgta agcaaggggg
      841 aagggagcca cccaccccag aactcaaatg gagagaaagt caagacaatc acccctgacg
      901 tggggctgca ccaatccctg acgtctgacc ccactgtggc tgtcctcaga gccaagaggg
      961 ctccagaagc ccacccgcct cgaagctgtt cagggagcct cacggcccgt gtttgccaca
     1021 tgggtgtgtg ccagggccaa ggggacacag aagatggcag gatgacacta atggggtgag
     1081 cagggcacac tggtgcctcc catactgccc tccagcacca ggcagggtca ccacagccgg
     1141 caagcactgg gcctggggat gtgtgaagag atagggttat tgagaagaga aaacagaacg
     1201 ctggtcatcc gtggcactca gggctaggca gtccagggag cagaaaacag gggtcccggg
     1261 cccagtctcc ctcctggagg tcagagcgga gcccctggca ctgtgccctg gcccagaacc
     1321 aggctgtggg ctccacgctg cacaccccaa ctcaggagca gaaagcaaac ccct
//
LOCUS       NM_001048225            1132 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens dysbindin domain containing 2 (DBNDD2), transcript
            variant 5, mRNA.
ACCESSION   NM_001048225
VERSION     NM_001048225.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1132)
  AUTHORS   Elsholz L, Wasser Y, Ziegler P, Habib P and Voigt A.
  TITLE     CK1BP Reduces alpha-Synuclein Oligomerization and Aggregation
            Independent of Serine 129 Phosphorylation
  JOURNAL   Cells 10 (11), 2830 (2021)
   PUBMED   34831053
  REMARK    GeneRIF: CK1BP Reduces alpha-Synuclein Oligomerization and
            Aggregation Independent of Serine 129 Phosphorylation. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1132)
  AUTHORS   Kim JM, Lee KH, Jeon YJ, Oh JH, Jeong SY, Song IS, Kim JM, Lee DS
            and Kim NS.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
REFERENCE   3  (bases 1 to 1132)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   4  (bases 1 to 1132)
  AUTHORS   Yin H, Laguna KA, Li G and Kuret J.
  TITLE     Dysbindin structural homologue CK1BP is an isoform-selective binding
            partner of human casein kinase-1
  JOURNAL   Biochemistry 45 (16), 5297-5308 (2006)
   PUBMED   16618118
  REMARK    GeneRIF: CK1BP is an isoform-selective binding partner of human
            casein kinase-1
REFERENCE   5  (bases 1 to 1132)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   6  (bases 1 to 1132)
  AUTHORS   Lucas T, Pratscher B, Fink D, Wolschek M, Samorapoompichit P,
            Schofer C, Pehamberger H, Muller M, Sorensen P and Jansen B.
  TITLE     The human orthologue of a novel apoptosis response gene induced
            during rat myelomonocytic stem cell apoptosis maps to 20q13.12
  JOURNAL   Stem Cells Dev 14 (5), 556-563 (2005)
   PUBMED   16305340
REFERENCE   7  (bases 1 to 1132)
  AUTHORS   Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH,
            Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong
            R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang
            GY, Chen Z, Chen MD and Chen JL.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX384644.2, BG706414.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000372710.5/ ENSP00000361795.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL021578.4, AY113697.1 and BC023562.2.
            On May 20, 2020 this sequence version replaced NM_001048225.3.
            Transcript Variant: This variant (5) differs in the 5' UTR and 5'
            coding region, and uses an alternate start codon, compared to
            variant 1. The encoded isoform (c) has a distinct and longer
            N-terminus, compared to isoform a.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1132
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..1132
                     /gene="DBNDD2"
                     /gene_synonym="C20orf35; CK1BP; HSMNP1"
                     /note="dysbindin domain containing 2"
                     /db_xref="GeneID:55861"
                     /db_xref="HGNC:HGNC:15881"
                     /db_xref="MIM:611453"
     CDS             180..665
                     /gene="DBNDD2"
                     /gene_synonym="C20orf35; CK1BP; HSMNP1"
                     /note="isoform a is encoded by transcript variant 5; SCF
                     apoptosis response protein 1; casein kinase-1 binding
                     protein; dysbindin (dystrobrevin binding protein 1) domain
                     containing 2"
                     /codon_start=1
                     /product="dysbindin domain-containing protein 2 isoform a"
                     /protein_id="NP_001041690.3"
                     /db_xref="CCDS:CCDS42880.1"
                     /db_xref="GeneID:55861"
                     /db_xref="HGNC:HGNC:15881"
                     /db_xref="MIM:611453"
                     /translation="MDPNPRAALERQQLRLRERQKFFEDILQPETEFVFPLSHLHLESQ
                     RPPIGSISSMEVNVDTLEQVELIDLGDPDAADVFLPCEDPPPTPQSSGMDNHLEELSLP
                     VPTSDRTTSRTSSSSSSDSSTNLHSPNPSDDGADTPLAQSDEEEERGDGGAEPGACS"
     regulatory      1109..1114
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DBNDD2"
                     /gene_synonym="C20orf35; CK1BP; HSMNP1"
                     /note="hexamer: AATAAA"
     polyA_site      1132
                     /gene="DBNDD2"
                     /gene_synonym="C20orf35; CK1BP; HSMNP1"
                     /note="major polyA site"
ORIGIN
        1 acacttggtt tcagggaagg ggaaagaggt caccaagggc agaggtgtcc aggccggagc
       61 caggggcccc actgttggga tgctggctgc agtggggcgc cccaagccca ggtcccctct
      121 gtcttctctt tcgactttgc agctgtactt gttttgctcc tctacccgca ggagctgaca
      181 tggacccaaa tcctcgggcc gccctggagc gccagcagct ccgccttcgg gagcggcaaa
      241 aattcttcga ggacatttta cagccagaga cagagtttgt ctttcctctg tcccatctgc
      301 atctcgagtc gcagagaccc cccataggta gtatctcatc catggaagtg aatgtggaca
      361 cactggagca agtagaactt attgaccttg gggacccgga tgcagcagat gtgttcttgc
      421 cttgcgaaga tcctccacca accccccagt cgtctgggat ggacaaccat ttggaggagc
      481 tgagcctgcc ggtgcctaca tcagacagga ccacatctag gacctcctcc tcctcctcct
      541 ccgactcctc caccaacctg catagcccaa atccaagtga tgatggagca gatacgccct
      601 tggcacagtc ggatgaagag gaggaaaggg gtgatggagg ggcagagcct ggagcctgca
      661 gctagcagtg ggcccctgcc tacagactga ccacgctggc tattctccac atgagaccac
      721 aggcccagcc agagcctgtc gggagaagac cagactcttt acttgcagta ggcaccagag
      781 gtgggaagga tggtgggatt gtgtaccttt ctaagaatta accctctcct gctttactgc
      841 taattttttc ctgctgcaac cctcccacca gtttttggct tactcctgag atatgatttg
      901 caaatgagga gagagaagat gaggttggac aagatgccac tgcttttctt agcactcttc
      961 cctcccctaa accatcccgt agtcttctaa tacagtctct cagacaagtg tctctagatg
     1021 gatgtgaact ccttaactca tcaagtaagg tggtactcaa gccatgctgc ctccttacat
     1081 cctttttgga acagagcacg gtataaataa taaactaata ataatatgcc aa
//
LOCUS       NM_001048241             407 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens ubiquitin like 5 (UBL5), transcript variant 2, mRNA.
ACCESSION   NM_001048241
VERSION     NM_001048241.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 407)
  AUTHORS   Kolathur KK, Mallya S, Barve S, Bojja SL and Wagle MM.
  TITLE     Moonlighting functions of the ubiquitin-like protein, Hub1/UBL-5
  JOURNAL   Int J Biochem Cell Biol 162, 106445 (2023)
   PUBMED   37453225
  REMARK    GeneRIF: Moonlighting functions of the ubiquitin-like protein,
            Hub1/UBL-5. Review article
REFERENCE   2  (bases 1 to 407)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 407)
  AUTHORS   Oka Y, Bekker-Jensen S and Mailand N.
  TITLE     Ubiquitin-like protein UBL5 promotes the functional integrity of the
            Fanconi anemia pathway
  JOURNAL   EMBO J 34 (10), 1385-1398 (2015)
   PUBMED   25862789
  REMARK    GeneRIF: Findings establish UBL5 as a factor that promotes the
            functionality of the FA DNA repair pathway.
REFERENCE   4  (bases 1 to 407)
  AUTHORS   Oka Y, Varmark H, Vitting-Seerup K, Beli P, Waage J, Hakobyan A,
            Mistrik M, Choudhary C, Rohde M, Bekker-Jensen S and Mailand N.
  TITLE     UBL5 is essential for pre-mRNA splicing and sister chromatid
            cohesion in human cells
  JOURNAL   EMBO Rep 15 (9), 956-964 (2014)
   PUBMED   25092792
  REMARK    GeneRIF: our results show that UBL5 plays an evolutionary conserved
            role in pre-mRNA splicing, the integrity of which is essential for
            the fidelity of chromosome segregation.
REFERENCE   5  (bases 1 to 407)
  AUTHORS   Hasson SA, Kane LA, Yamano K, Huang CH, Sliter DA, Buehler E, Wang
            C, Heman-Ackah SM, Hessa T, Guha R, Martin SE and Youle RJ.
  TITLE     High-content genome-wide RNAi screens identify regulators of parkin
            upstream of mitophagy
  JOURNAL   Nature 504 (7479), 291-295 (2013)
   PUBMED   24270810
REFERENCE   6  (bases 1 to 407)
  AUTHORS   Wilkinson CR, Dittmar GA, Ohi MD, Uetz P, Jones N and Finley D.
  TITLE     Ubiquitin-like protein Hub1 is required for pre-mRNA splicing and
            localization of an essential splicing factor in fission yeast
  JOURNAL   Curr Biol 14 (24), 2283-2288 (2004)
   PUBMED   15620657
  REMARK    Erratum:[Curr Biol. 2006 Dec 19;16(24):2488]
REFERENCE   7  (bases 1 to 407)
  AUTHORS   Jowett JB, Elliott KS, Curran JE, Hunt N, Walder KR, Collier GR,
            Zimmet PZ and Blangero J.
  TITLE     Genetic variation in BEACON influences quantitative variation in
            metabolic syndrome-related phenotypes
  JOURNAL   Diabetes 53 (9), 2467-2472 (2004)
   PUBMED   15331561
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 407)
  AUTHORS   McNally T, Huang Q, Janis RS, Liu Z, Olejniczak ET and Reilly RM.
  TITLE     Structural analysis of UBL5, a novel ubiquitin-like modifier
  JOURNAL   Protein Sci 12 (7), 1562-1566 (2003)
   PUBMED   12824502
REFERENCE   9  (bases 1 to 407)
  AUTHORS   Kantham L, Kerr-Bayles L, Godde N, Quick M, Webb R, Sunderland T,
            Bond J, Walder K, Augert G and Collier G.
  TITLE     Beacon interacts with cdc2/cdc28-like kinases
  JOURNAL   Biochem Biophys Res Commun 304 (1), 125-129 (2003)
   PUBMED   12705895
REFERENCE   10  (bases 1 to 407)
  AUTHORS   Friedman JS, Koop BF, Raymond V and Walter MA.
  TITLE     Isolation of a ubiquitin-like (UBL5) gene from a screen identifying
            highly expressed and conserved iris genes
  JOURNAL   Genomics 71 (2), 252-255 (2001)
   PUBMED   11161819
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: CB108812.1, CB107673.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000586895.6/ ENSP00000468656.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP213482.1, BC110839.1 and CA418471.1.
            On Jun 2, 2019 this sequence version replaced NM_001048241.2.
            Summary: This gene encodes a member of a group of proteins similar
            to ubiquitin. The encoded protein is not thought to degrade
            proteins like ubiquitin but to affect their function through being
            bound to target proteins by an isopeptide bond. The gene product
            has been studied as a link to predisposition to obesity based on
            its expression in Psammomys obesus, the fat sand rat, which is an
            animal model for obesity studies. Variation in this gene was found
            to be significantly associated with some metabolic traits (PMID:
            15331561) but not associated with childhood obesity (PMID:
            19189687). Pseudogenes of this gene are located on chromosomes 3, 5
            and 17. Multiple alternatively spliced variants, encoding the same
            protein, have been identified. [provided by RefSeq, Jan 2013].
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..407
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..407
                     /gene="UBL5"
                     /gene_synonym="HUB1"
                     /note="ubiquitin like 5"
                     /db_xref="GeneID:59286"
                     /db_xref="HGNC:HGNC:13736"
                     /db_xref="MIM:606849"
     misc_feature    28..30
                     /gene="UBL5"
                     /gene_synonym="HUB1"
                     /note="upstream in-frame stop codon"
     CDS             79..300
                     /gene="UBL5"
                     /gene_synonym="HUB1"
                     /note="beacon; testicular tissue protein Li 217"
                     /codon_start=1
                     /product="ubiquitin-like protein 5"
                     /protein_id="NP_001041706.1"
                     /db_xref="CCDS:CCDS12219.1"
                     /db_xref="GeneID:59286"
                     /db_xref="HGNC:HGNC:13736"
                     /db_xref="MIM:606849"
                     /translation="MIEVVCNDRLGKKVRVKCNTDDTIGDLKKLIAAQTGTRWNKIVLK
                     KWYTIFKDHVSLGDYEIHDGMNLELYYQ"
     regulatory      389..394
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBL5"
                     /gene_synonym="HUB1"
                     /note="hexamer: AATAAA"
     polyA_site      407
                     /gene="UBL5"
                     /gene_synonym="HUB1"
                     /note="major polyA site"
ORIGIN
        1 aactgcgacc ggggttcagc gctcgggtga ggagctggtg gcgtcggcag gttcgaggcg
       61 attcgagctc cagctaggat gatcgaggtt gtttgcaacg accgtctggg gaagaaggtc
      121 cgcgttaaat gcaacacgga tgataccatc ggggacctta agaagctgat tgcagcccaa
      181 actggtaccc gttggaacaa gattgtcctg aagaagtggt acacgatttt taaggaccac
      241 gtgtctctgg gggactatga aatccacgat gggatgaacc tggagcttta ttatcaatag
      301 atgagaatcc tcatcttcct gccccgcttt cctctcccat cctcatcccc cacactggga
      361 tagatgcttg tttgtaaaaa ctcaccttaa taaagactta gatgttg
//
LOCUS       NM_001048249            2888 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens small integral membrane protein 15 (SMIM15), mRNA.
ACCESSION   NM_001048249
VERSION     NM_001048249.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2888)
  AUTHORS   Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R,
            Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T,
            Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K,
            Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T,
            Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T
            and Sugano S.
  TITLE     Diversification of transcriptional modulation: large-scale
            identification and characterization of putative alternative
            promoters of human genes
  JOURNAL   Genome Res 16 (1), 55-65 (2006)
   PUBMED   16344560
REFERENCE   2  (bases 1 to 2888)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz
            TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha
            SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA,
            McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley
            KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM,
            Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan
            A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko
            Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC,
            Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS,
            Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones
            SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.208459.1, BX538015.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2148093
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000339020.8/ ENSP00000339324.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA039277.1, BX538015.1 and AC008498.3.
            On Nov 23, 2018 this sequence version replaced NM_001048249.3.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2888
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q12.1"
     gene            1..2888
                     /gene="SMIM15"
                     /gene_synonym="C5orf43"
                     /note="small integral membrane protein 15"
                     /db_xref="GeneID:643155"
                     /db_xref="HGNC:HGNC:33861"
     misc_feature    328..330
                     /gene="SMIM15"
                     /gene_synonym="C5orf43"
                     /note="upstream in-frame stop codon"
     CDS             421..645
                     /gene="SMIM15"
                     /gene_synonym="C5orf43"
                     /note="UPF0542 protein C5orf43"
                     /codon_start=1
                     /product="small integral membrane protein 15"
                     /protein_id="NP_001041714.1"
                     /db_xref="CCDS:CCDS34165.1"
                     /db_xref="GeneID:643155"
                     /db_xref="HGNC:HGNC:33861"
                     /translation="MFDIKAWAEYVVEWAAKDPYGFLTTVILALTPLFLASAVLSWKLA
                     KMIEAREKEQKKKQKRQENIAKAKRLKKD"
     misc_feature    478..540
                     /gene="SMIM15"
                     /gene_synonym="C5orf43"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3B0.1);
                     transmembrane region"
     misc_feature    583..642
                     /gene="SMIM15"
                     /gene_synonym="C5orf43"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3B0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1807..1812
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMIM15"
                     /gene_synonym="C5orf43"
                     /note="hexamer: ATTAAA"
     polyA_site      1827
                     /gene="SMIM15"
                     /gene_synonym="C5orf43"
                     /note="major polyA site"
     regulatory      1966..1971
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMIM15"
                     /gene_synonym="C5orf43"
                     /note="hexamer: AATAAA"
     polyA_site      1990
                     /gene="SMIM15"
                     /gene_synonym="C5orf43"
                     /note="major polyA site"
     polyA_site      2454
                     /gene="SMIM15"
                     /gene_synonym="C5orf43"
     regulatory      2858..2863
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMIM15"
                     /gene_synonym="C5orf43"
                     /note="hexamer: AATAAA"
     regulatory      2862..2867
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMIM15"
                     /gene_synonym="C5orf43"
                     /note="hexamer: AATAAA"
     polyA_site      2880
                     /gene="SMIM15"
                     /gene_synonym="C5orf43"
     polyA_site      2888
                     /gene="SMIM15"
                     /gene_synonym="C5orf43"
ORIGIN
        1 gccttcctgc ttccggtctg gcggtgagtg gggagtggga tccgatcccg tggggctatg
       61 taggggaagt tggtggctgc agctgccgtg gttttctcct ggtgtccagc agaaacggcg
      121 gcggcgcaag gtgtggctgg gccaacccag gatctcccag gaccctccgc tctgcgcgac
      181 aaggggcccg cgcttgccaa ggccgacggg caggagtgaa cgtggcctcc gtgggtctgc
      241 agccccgata ggccaattgt acagaattta aaccgtctct cagatgtgta cagtagaact
      301 caagaagaca gactaccaag ggtcatctga agtcgtgatt gggtcactaa taacaccagg
      361 acaaagttaa gggatcacta ctcaagcata agccccagtt ttcataagac tgctgtgaag
      421 atgtttgata taaaggcttg ggctgagtat gttgtggaat gggctgcaaa ggacccctat
      481 ggcttcctta caaccgttat tttggccctt actccactgt tcctagcaag tgctgtactg
      541 tcttggaaat tggccaagat gattgaggcc agggagaagg agcaaaagaa gaagcaaaaa
      601 cgccaagaaa acattgcaaa agctaaacga ctaaaaaagg attgaaggac tgaacaggct
      661 ttgcaaccag aggaaaatca tttggaaaat tacacagctt tggaagaatc cactaaagtt
      721 tcttctttgg atttcttgac agtatgattt agtaaatgaa atttgaccaa atggaagaat
      781 catgttagtt ctgacctcaa tactatagta acttttaggc gtgggtgtag aagtttatag
      841 gtttctattg acagttattg taaattagca tttactgtgg tacaaattct ttataactga
      901 cttagtcatt tgccgcttag cagtttatat actgaaatga aaacatcttg tggggaaaag
      961 tgactttaga ttatgaactc aattcaaatg aactctattt aaaatggggt cctattttgg
     1021 acaaaggaaa ttaagaatgt aaaagtcaga acagtcttga ggtaaaaagt gtgctttggc
     1081 ttaaaaggga tacagtatat taattacatc ttttattatt attgtttatt tcttagaatc
     1141 atttctggct ttctcaaaac aaaataatat taatgagtac ttctatttgc tgcatttttc
     1201 ttattacagc ctttgagaca gctggtaatt ataagtcatt ttccattttt taaaacataa
     1261 ttttataaag aattctctta tctcgactat gtagaatacc acctactgga cagaacaatt
     1321 tttgtactca caaacactgc cattttctta gagatggctt gagaggagta acactatggt
     1381 ttaaagcttg cagtaaaaat gccaaacact gtagtacctt ggaacccagt ttattcttgt
     1441 gctaagcaga actgtaaaat agttaaaatg tcttatcaag taattcgccg attacaaaga
     1501 caccatttgt tttttatttc attctttgtt ttaactcatg tggtagtgat atttaatact
     1561 ttctgatcaa acaggttcaa agtaaaacgt taaatttcac atttctttta aagaactctt
     1621 aaagtgtaac agttacgcca tacttcataa gtggtaaaga aaggtataaa atttggaaac
     1681 attttgttgg gcatagtagt gattgggtga aaaggataaa ttatatcaaa atgagaatgt
     1741 gctgtaattg gaagtaggga gctaaaggat gtttctttca gtttagtaga actggaacgt
     1801 tttactatta aacatggctt ttataaatgc atggtccaat aattttattc actgttagta
     1861 tttaattcac tgtcagctta ttaatgtttt ctgtacccat taatgaattt taaattacaa
     1921 aaaattgtct agcagctaca gtttaaaaat gaaactagac attaaaataa atttgataat
     1981 tttttataaa gaggtcctgg attttttttt tttttttgga ggaactaaca ttttaagtta
     2041 cattatgtta tgcaagttag aatttcagtt acagctaagc atacttgtaa aatttcagga
     2101 ctgtatctct cagaacctaa ggaccactga gaatgtttat ggaccagttt gaataacact
     2161 taatgctatt cttttagatt atcagtctct acttggtgcc agtgtgagca acacattata
     2221 actcaaggca ctgaaattat tcagtgttaa gatatatcta taatatgttt ggttttctgc
     2281 aatcaagctg ttcatggaaa gaatttatgt acatgtttta cttagggtca cattttagag
     2341 taaaagtatt gaagcaaagg atatagtcat aattctcagt tacctactaa agttatggtt
     2401 tcatcagttc tgttgtaaca acttaaaggt atttaaaggt ctgtttttct ataatttatt
     2461 agtcttaaca catgccagtt ttgtatttgt ttgacatatg cttttttttt ccactttttt
     2521 ccatcattta gagagccttt ctatatatgt gagattcata ctttacagtg tgtgtgtgtg
     2581 tgtgtgtgtg tgtgtgtgtg taaggggctg gagtatagag aatattgtga ggtttgggat
     2641 tcttcagaaa aatcacctct cactgcaaca gagtactgtt gttaaagaat cccatttgct
     2701 attatctaga atacttttaa gaaattgttt acttattaca ttgtttctga agttctgaga
     2761 actaagtaca atcaattacc attctaaagc tggtcttggg ggagaaagaa agctgtcccc
     2821 tggctgcctc taacaaacat tttatcaaaa atcagcaaat aaataaaagt ttgtatgtca
     2881 gaacttga
//
LOCUS       NM_001048252            1622 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens cortexin 3 (CTXN3), transcript variant 1, mRNA.
ACCESSION   NM_001048252
VERSION     NM_001048252.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1622)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1622)
  AUTHORS   Sery O, Lochman J, Povova J, Janout V, Plesnik J and Balcar VJ.
  TITLE     Association between 5q23.2-located polymorphism of CTXN3 gene
            (Cortexin 3) and schizophrenia in European-Caucasian males;
            implications for the aetiology of schizophrenia
  JOURNAL   Behav Brain Funct 11, 10 (2015)
   PUBMED   25889058
  REMARK    GeneRIF: altered expression of cortexin 3, either alone, or in
            parallel with changes in disrupted-in-schizophrenia 1, could subtly
            perturb GABAergic neurotransmission Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1622)
  AUTHORS   Chouraki V, De Bruijn RF, Chapuis J, Bis JC, Reitz C, Schraen S,
            Ibrahim-Verbaas CA, Grenier-Boley B, Delay C, Rogers R, Demiautte F,
            Mounier A, Fitzpatrick AL, Berr C, Dartigues JF, Uitterlinden AG,
            Hofman A, Breteler M, Becker JT, Lathrop M, Schupf N, Alperovitch A,
            Mayeux R, van Duijn CM, Buee L, Amouyel P, Lopez OL, Ikram MA,
            Tzourio C and Lambert JC.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     A genome-wide association meta-analysis of plasma Abeta peptides
            concentrations in the elderly
  JOURNAL   Mol Psychiatry 19 (12), 1326-1335 (2014)
   PUBMED   24535457
REFERENCE   4  (bases 1 to 1622)
  AUTHORS   Panichareon B, Nakayama K, Iwamoto S, Thurakitwannakarn W and
            Sukhumsirichart W.
  TITLE     Association of CTXN3-SLC12A2 polymorphisms and schizophrenia in a
            Thai population
  JOURNAL   Behav Brain Funct 8, 27 (2012)
   PUBMED   22643131
  REMARK    GeneRIF: Two single nucleotide polymophisms of the CTXN3 and SLC12A2
            genes are associated with risk of schizophrenia in a Thai
            population. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1622)
  AUTHORS   Potkin SG, Turner JA, Guffanti G, Lakatos A, Fallon JH, Nguyen DD,
            Mathalon D, Ford J, Lauriello J and Macciardi F.
  CONSRTM   FBIRN
  TITLE     A genome-wide association study of schizophrenia using brain
            activation as a quantitative phenotype
  JOURNAL   Schizophr Bull 35 (1), 96-108 (2009)
   PUBMED   19023125
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   6  (bases 1 to 1622)
  AUTHORS   Wang HT, Chang JW, Guo Z and Li BG.
  TITLE     In silico-initiated cloning and molecular characterization of
            cortexin 3, a novel human gene specifically expressed in the kidney
            and brain, and well conserved in vertebrates
  JOURNAL   Int J Mol Med 20 (4), 501-510 (2007)
   PUBMED   17786280
  REMARK    GeneRIF: Selective expression of CTXN3 in the kidney and brain, the
            amino acid identity to cortexin, and its high conservation among
            different species indicate that CTXN3 may be involved in a process
            specifically restricted to kidney and brain tissue function.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB219764.1, DA129300.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2151119 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379445.8/ ENSP00000368758.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB219764.1.
            On Aug 13, 2020 this sequence version replaced NM_001048252.2.
            Transcript Variant: This variant (1) utilizes an alternate first
            exon. Transcript variants 1 and 2 encode the same protein.
FEATURES             Location/Qualifiers
     source          1..1622
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.2"
     gene            1..1622
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /note="cortexin 3"
                     /db_xref="GeneID:613212"
                     /db_xref="HGNC:HGNC:31110"
                     /db_xref="MIM:618746"
     misc_feature    463..465
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /note="upstream in-frame stop codon"
     CDS             514..759
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /note="kidney and brain-expressed protein"
                     /codon_start=1
                     /product="cortexin-3"
                     /protein_id="NP_001041717.1"
                     /db_xref="CCDS:CCDS34221.1"
                     /db_xref="GeneID:613212"
                     /db_xref="HGNC:HGNC:31110"
                     /db_xref="MIM:618746"
                     /translation="MDGGQPIPSSLVPLGNESADSSMSLEQKMTFVFVILLFIFLGILI
                     VRCFRILLDPYRSMPTSTWADGLEGLEKGQFDHALA"
     misc_feature    598..660
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4LDR2.1);
                     transmembrane region"
     regulatory      1602..1607
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /note="hexamer: AATAAA"
     polyA_site      1622
                     /gene="CTXN3"
                     /gene_synonym="KABE"
                     /note="major polyA site"
ORIGIN
        1 agaatcctct gaagagttgc tgaggcagaa ctgaaatcat ggctcacctc aaagaagcag
       61 cagtattggc cgttaatgat gcctcacaca gaaagacgat gctcctttaa ctcggggttt
      121 taatgggaag tttctaagcc tgaaacaaca gctttagacc tggggtgtgc catcagctgc
      181 cttgcagcta ccactgtcta ctgctttcac acagcgtggt cgggaagaat ggaaactaaa
      241 gaggcttgta actacctgta actgttccac caggaaatgg atcaagtgtt tgttcagcca
      301 gagccagtat taaaattaga ctctatttcc tgagcaccca caaatggacc tgacaaaggg
      361 aagacacaga tgtactgcgt gatgaggaaa gcctatcagg attaaaatat ggctataact
      421 cagcctctcc agagtgcagc caccatgacc tccgcagatt gatgatggaa gaaaagaaaa
      481 ccaggatatc ctgtgctctg gcttccctgg accatggatg gaggacagcc catcccctca
      541 tccctagtgc cccttgggaa cgaatcagca gattctagca tgtccctgga gcagaaaatg
      601 acatttgttt ttgtgattct gttgtttatt ttcttgggca ttctcattgt ccggtgcttc
      661 cggattcttt tggatccata tcgaagcatg ccaacctcta cctgggctga tggacttgaa
      721 ggcctggaga aagggcagtt cgaccatgcc cttgcttagg agggatggtg tgggatctcc
      781 tcctgaggag atgaagtgct ttgtgtcttg gtgaggattc cctttattta gtgttctcaa
      841 caaatcaaat ttaaacaata tttggtccca ggaccataat ccattattcc ataaatatgc
      901 agttgggtta aagacatttg aggatgttgg aaatggacac ttatataact aatccaacat
      961 aagaaggttt aaatttttat gtttgctcaa tgaatgagta ctcttaaaat tgtgtgattg
     1021 tgaaaccaag agcgttaata ctgacataga tttgccatca aacaaaacac cacctgatct
     1081 gactaaagaa taaaagacta gaaaggatct catatgaatc tggtgacaag gccaggaaga
     1141 gatttccttg ctctaattat gtctatattt gttttatttc atgggcacct atctgggtcc
     1201 tgagcagaat gaggaagatt gtgctgaatg gacccaaagt agtttcttgt tttctcccaa
     1261 agcagggagc tttgggaagc aatggaaaag cttaaaagag atgattctgt ccttggtaaa
     1321 tgtgagtgag aatagcgttt tgtttttcaa gtaaaactta attcaaaggc tacaaagttt
     1381 taaaaactat ttaccaagcc aactacatta tatgtattca tattaataac atgtgtagag
     1441 gtagctatac attacttgaa tttacacttt acacaaatga tttaaaaaat aggttgcaag
     1501 tgcagcttaa agtttttttt caatgaaaag ttaattgttt agaggagaag acttttatag
     1561 tcttcagagg aatgtgtatt tatgattgta tatagtcacc aaataaaact tttcaagaaa
     1621 ca
//
LOCUS       NM_001048265             675 bp    mRNA    linear   PRI 16-JUN-2023
DEFINITION  Homo sapiens piercer of microtubule wall 1 (PIERCE1), transcript
            variant 1, mRNA.
ACCESSION   NM_001048265
VERSION     NM_001048265.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 675)
  AUTHORS   Gui M, Croft JT, Zabeo D, Acharya V, Kollman JM, Burgoyne T, Hoog JL
            and Brown A.
  TITLE     SPACA9 is a lumenal protein of human ciliary singlet and doublet
            microtubules
  JOURNAL   Proc Natl Acad Sci U S A 119 (41), e2207605119 (2022)
   PUBMED   36191189
REFERENCE   2  (bases 1 to 675)
  AUTHORS   Gui M, Farley H, Anujan P, Anderson JR, Maxwell DW, Whitchurch JB,
            Botsch JJ, Qiu T, Meleppattu S, Singh SK, Zhang Q, Thompson J, Lucas
            JS, Bingle CD, Norris DP, Roy S and Brown A.
  TITLE     De novo identification of mammalian ciliary motility proteins using
            cryo-EM
  JOURNAL   Cell 184 (23), 5791-5806 (2021)
   PUBMED   34715025
REFERENCE   3  (bases 1 to 675)
  AUTHORS   Kim HJ, Lee SE, Na H, Roe JS, Roh JI and Lee HW.
  TITLE     Divergence of the PIERCE1 expression between mice and humans as a
            p53 target gene
  JOURNAL   PLoS One 15 (8), e0236881 (2020)
   PUBMED   32745107
  REMARK    GeneRIF: Divergence of the PIERCE1 expression between mice and
            humans as a p53 target gene. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 675)
  AUTHORS   Zhang C, Chang C, Zhao W, Gao H, Wang Q, Li D, Zhang F, Zhang S and
            Xu C.
  TITLE     The novel protein C9orf116 promotes rat liver cell line BRL-3A
            proliferation
  JOURNAL   PLoS One 12 (7), e0180607 (2017)
   PUBMED   28749992
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 675)
  AUTHORS   Sung YH, Baek IJ, Kim YH, Gho YS, Oh SP, Lee YJ and Lee HW.
  TITLE     PIERCE1 is critical for specification of left-right asymmetry in
            mice
  JOURNAL   Sci Rep 6, 27932 (2016)
   PUBMED   27305836
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 675)
  AUTHORS   Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL,
            Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R,
            Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley
            CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H,
            Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D,
            Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke
            G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M,
            Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl
            ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L,
            Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C,
            Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R,
            Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath
            PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E,
            Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley
            AM, King A, Knights A, Laird GK, Langford C, Lawlor S,
            Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin
            S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray
            A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI,
            Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand
            V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M,
            Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A,
            Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL,
            Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL,
            Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ,
            Bentley DR, Beck S, Rogers J and Dunham I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BU634102.1, SRR3476690.380146.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2158569
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000429260.7/ ENSP00000395281.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DR003074.1, AY927868.1 and AI367252.1.
            On Nov 23, 2018 this sequence version replaced NM_001048265.1.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..675
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..675
                     /gene="PIERCE1"
                     /gene_synonym="C9orf116; RbEST47"
                     /note="piercer of microtubule wall 1"
                     /db_xref="GeneID:138162"
                     /db_xref="HGNC:HGNC:28435"
                     /db_xref="MIM:614502"
     CDS             19..429
                     /gene="PIERCE1"
                     /gene_synonym="C9orf116; RbEST47"
                     /note="isoform 1 is encoded by transcript variant 1; pierce
                     1; UPF0691 protein C9orf116; p53-induced expression in
                     RB-null cells protein 1; p53-induced expression 1 in
                     Rba^'/a^' cells; p53-induced expression 1 in Rb-/- cells;
                     piercer of microtubule wall 1 protein"
                     /codon_start=1
                     /product="piercer of microtubule wall 1 protein isoform 1"
                     /protein_id="NP_001041730.1"
                     /db_xref="CCDS:CCDS43899.1"
                     /db_xref="GeneID:138162"
                     /db_xref="HGNC:HGNC:28435"
                     /db_xref="MIM:614502"
                     /translation="MAEECPRACAEPVAPKATAPPERTSDYYRVSADLPGRFNNPGWFR
                     GYRTQKAVSVYRTSNQAYGSRAPTVHEMPKVFYPNSNKFSQQLAAGGMFRNNTLNVYLE
                     KSIVTGPDNCITSCDRLNFHPSYNINRPSICD"
     misc_feature    19..90
                     /gene="PIERCE1"
                     /gene_synonym="C9orf116; RbEST47"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BN46.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      652..657
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIERCE1"
                     /gene_synonym="C9orf116; RbEST47"
                     /note="hexamer: ATTAAA"
     polyA_site      675
                     /gene="PIERCE1"
                     /gene_synonym="C9orf116; RbEST47"
                     /note="major polyA site"
ORIGIN
        1 gcttctcctc caggcacaat ggctgaggaa tgccccagag cgtgcgcgga gcctgtggcg
       61 cccaaggcca cggccccgcc ggagaggacc agcgactact accgcgtgag cgcggacctg
      121 ccgggcaggt tcaacaaccc ggggtggttc cggggctaca ggacccagaa ggctgtctcc
      181 gtgtacagga ccagtaacca ggcttacggg agcagagccc ccaccgtgca cgagatgcct
      241 aaagtatttt atccaaattc gaataaattt tcccaacaac ttgcagcggg tggaatgttc
      301 cggaacaata ctctcaatgt ttacctggag aaaagcatcg tgactggccc cgataactgc
      361 atcacctcct gtgaccggct caacttccac cccagttaca acatcaacag gccatccatc
      421 tgcgattgag gggctggaaa ctccctctag gagtcctctg accccagggc ctcctggaaa
      481 atcatcatcc ctcatcaccc acagtcgccc gattgtgacg gcacagactg cgctgccttc
      541 cctgaaaata ttattcgtct gcggagtagg aaaatatgca aacggggccg tgaagtcctg
      601 ccatttcaca tctaataagt acatgggaaa gatgctaatg gttgactttg cattaaaaac
      661 gttgtcacat cctga
//
LOCUS       NM_001049               4390 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.
ACCESSION   NM_001049
VERSION     NM_001049.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4390)
  AUTHORS   Vitali E, Piccini S, Trivellin G, Smiroldo V, Lavezzi E, Zerbi A,
            Pepe G and Lania AG.
  TITLE     The impact of SST2 trafficking and signaling in the treatment of
            pancreatic neuroendocrine tumors
  JOURNAL   Mol Cell Endocrinol 527, 111226 (2021)
   PUBMED   33675866
  REMARK    GeneRIF: The impact of SST2 trafficking and signaling in the
            treatment of pancreatic neuroendocrine tumors. Review article
REFERENCE   2  (bases 1 to 4390)
  AUTHORS   Guo RY, Wang HM, Dong X, Hu Y, Li J, Zang Y and Li X.
  TITLE     Selectivity Comparison of Tumor-Imaging Probes Designed Based on
            Various Tumor-Targeting Strategies: A Proof of Concept Study
  JOURNAL   ACS Appl Bio Mater 4 (3), 2058-2065 (2021)
   PUBMED   35014332
  REMARK    GeneRIF: Selectivity Comparison of Tumor-Imaging Probes Designed
            Based on Various Tumor-Targeting Strategies: A Proof of Concept
            Study.
REFERENCE   3  (bases 1 to 4390)
  AUTHORS   Soukup J, Hornychova H, Manethova M, Michalova K, Michnova L,
            Popovska L, Skarkova V, Cesak T, Netuka D, Ryska A, Cap J, Hana V,
            Hana V Jr, Krsek M, Dvorakova E, Krcma M, Lazurova I, Olsovska V,
            Stary K, Vanuga P and Gabalec F.
  TITLE     Predictive and prognostic significance of tumour subtype, SSTR1-5
            and e-cadherin expression in a well-defined cohort of patients with
            acromegaly
  JOURNAL   J Cell Mol Med 25 (5), 2484-2492 (2021)
   PUBMED   33491286
  REMARK    GeneRIF: Predictive and prognostic significance of tumour subtype,
            SSTR1-5 and e-cadherin expression in a well-defined cohort of
            patients with acromegaly.
REFERENCE   4  (bases 1 to 4390)
  AUTHORS   Kaemmerer D, Schindler R, Mussbach F, Dahmen U, Altendorf-Hofmann A,
            Dirsch O, Sanger J, Schulz S and Lupp A.
  TITLE     Somatostatin and CXCR4 chemokine receptor expression in
            hepatocellular and cholangiocellular carcinomas: tumor capillaries
            as promising targets
  JOURNAL   BMC Cancer 17 (1), 896 (2017)
   PUBMED   29282035
  REMARK    GeneRIF: High SSTR1 expression is associated with hepatocellular and
            cholangiocellular carcinomas in tumor capillaries. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 4390)
  AUTHORS   Song KB, Kim SC, Kim JH, Seo DW, Hong SM, Park KM, Hwang DW, Lee JH
            and Lee YJ.
  TITLE     Prognostic Value of Somatostatin Receptor Subtypes in Pancreatic
            Neuroendocrine Tumors
  JOURNAL   Pancreas 45 (2), 187-192 (2016)
   PUBMED   26474434
  REMARK    GeneRIF: Data showed that the distribution of somatostatin receptor
            (SSTR) subtypes among the 199 pancreatic neuroendocrine tumors
            (PNETs) was: SSTR2 (54.8%), SSTR1 (53.3%), SSTR4 (51.8%), SSTR5
            (33.7%), and SSTR3 (28.6%).
REFERENCE   6  (bases 1 to 4390)
  AUTHORS   Le Romancer M, Cherifi Y, Levasseur S, Laigneau JP, Peranzi G, Jais
            P, Lewin MJ and Reyl-Desmars F.
  TITLE     Messenger RNA expression of somatostatin receptor subtypes in human
            and rat gastric mucosae
  JOURNAL   Life Sci 58 (13), 1091-1098 (1996)
   PUBMED   8622562
REFERENCE   7  (bases 1 to 4390)
  AUTHORS   Fujita T, Yamaji Y, Sato M, Murao K and Takahara J.
  TITLE     Gene expression of somatostatin receptor subtypes, SSTR1 and SSTR2,
            in human lung cancer cell lines
  JOURNAL   Life Sci 55 (23), 1797-1806 (1994)
   PUBMED   7968260
REFERENCE   8  (bases 1 to 4390)
  AUTHORS   Kaupmann K, Bruns C, Hoyer D, Seuwen K and Lubbert H.
  TITLE     Distribution and second messenger coupling of four somatostatin
            receptor subtypes expressed in brain
  JOURNAL   FEBS Lett 331 (1-2), 53-59 (1993)
   PUBMED   8405411
REFERENCE   9  (bases 1 to 4390)
  AUTHORS   Yamada Y, Stoffel M, Espinosa R 3rd, Xiang KS, Seino M, Seino S, Le
            Beau MM and Bell GI.
  TITLE     Human somatostatin receptor genes: localization to human chromosomes
            14, 17, and 22 and identification of simple tandem repeat
            polymorphisms
  JOURNAL   Genomics 15 (2), 449-452 (1993)
   PUBMED   8449518
REFERENCE   10  (bases 1 to 4390)
  AUTHORS   Yamada Y, Post SR, Wang K, Tager HS, Bell GI and Seino S.
  TITLE     Cloning and functional characterization of a family of human and
            mouse somatostatin receptors expressed in brain, gastrointestinal
            tract, and kidney
  JOURNAL   Proc Natl Acad Sci U S A 89 (1), 251-255 (1992)
   PUBMED   1346068
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX248780.1, AL556152.3 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000267377.3/ ENSP00000267377.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL450109.3.
            On Nov 26, 2018 this sequence version replaced NM_001049.2.
            Summary: Somatostatins are peptide hormones that regulate diverse
            cellular functions such as neurotransmission, cell proliferation,
            and endocrine signaling as well as inhibiting the release of many
            hormones and other secretory proteins. Somatostatin has two active
            forms of 14 and 28 amino acids. The biological effects of
            somatostatins are mediated by a family of G-protein coupled
            somatostatin receptors that are expressed in a tissue-specific
            manner. The protein encoded by this gene is a member of the
            superfamily of somatostatin receptors having seven transmembrane
            segments. Somatostatin receptors form homodimers and heterodimers
            with other members of the superfamily as well as with other
            G-protein coupled receptors and receptor tyrosine kinases. This
            somatostatin receptor has greater affinity for somatostatin-14 than
            -28. [provided by RefSeq, Jul 2012].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4390
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q21.1"
     gene            1..4390
                     /gene="SSTR1"
                     /gene_synonym="SRIF-2; SS-1-R; SS1-R; SS1R; SST1"
                     /note="somatostatin receptor 1"
                     /db_xref="GeneID:6751"
                     /db_xref="HGNC:HGNC:11330"
                     /db_xref="MIM:182451"
     misc_feature    425..427
                     /gene="SSTR1"
                     /gene_synonym="SRIF-2; SS-1-R; SS1-R; SS1R; SST1"
                     /note="upstream in-frame stop codon"
     CDS             713..1888
                     /gene="SSTR1"
                     /gene_synonym="SRIF-2; SS-1-R; SS1-R; SS1R; SST1"
                     /codon_start=1
                     /product="somatostatin receptor type 1"
                     /protein_id="NP_001040.1"
                     /db_xref="CCDS:CCDS9666.1"
                     /db_xref="GeneID:6751"
                     /db_xref="HGNC:HGNC:11330"
                     /db_xref="MIM:182451"
                     /translation="MFPNGTASSPSSSPSPSPGSCGEGGGSRGPGAGAADGMEEPGRNA
                     SQNGTLSEGQGSAILISFIYSVVCLVGLCGNSMVIYVILRYAKMKTATNIYILNLAIAD
                     ELLMLSVPFLVTSTLLRHWPFGALLCRLVLSVDAVNMFTSIYCLTVLSVDRYVAVVHPI
                     KAARYRRPTVAKVVNLGVWVLSLLVILPIVVFSRTAANSDGTVACNMLMPEPAQRWLVG
                     FVLYTFLMGFLLPVGAICLCYVLIIAKMRMVALKAGWQQRKRSERKITLMVMMVVMVFV
                     ICWMPFYVVQLVNVFAEQDDATVSQLSVILGYANSCANPILYGFLSDNFKRSFQRILCL
                     SWMDNAAEEPVDYYATALKSRAYSVEDFQPENLESGGVFRNGTCTSRITTL"
     misc_feature    713..862
                     /gene="SSTR1"
                     /gene_synonym="SRIF-2; SS-1-R; SS1-R; SS1R; SST1"
                     /note="propagated from UniProtKB/Swiss-Prot (P30872.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    722..724
                     /gene="SSTR1"
                     /gene_synonym="SRIF-2; SS-1-R; SS1-R; SS1R; SST1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30872.1); glycosylation site"
     misc_feature    842..844
                     /gene="SSTR1"
                     /gene_synonym="SRIF-2; SS-1-R; SS1-R; SS1R; SST1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30872.1); glycosylation site"
     misc_feature    854..856
                     /gene="SSTR1"
                     /gene_synonym="SRIF-2; SS-1-R; SS1-R; SS1R; SST1"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30872.1); glycosylation site"
     misc_feature    881..964
                     /gene="SSTR1"
                     /gene_synonym="SRIF-2; SS-1-R; SS1-R; SS1R; SST1"
                     /note="propagated from UniProtKB/Swiss-Prot (P30872.1);
                     transmembrane region"
     misc_feature    995..1072
                     /gene="SSTR1"
                     /gene_synonym="SRIF-2; SS-1-R; SS1-R; SS1R; SST1"
                     /note="propagated from UniProtKB/Swiss-Prot (P30872.1);
                     transmembrane region"
     misc_feature    1106..1171
                     /gene="SSTR1"
                     /gene_synonym="SRIF-2; SS-1-R; SS1-R; SS1R; SST1"
                     /note="propagated from UniProtKB/Swiss-Prot (P30872.1);
                     transmembrane region"
     misc_feature    1238..1300
                     /gene="SSTR1"
                     /gene_synonym="SRIF-2; SS-1-R; SS1-R; SS1R; SST1"
                     /note="propagated from UniProtKB/Swiss-Prot (P30872.1);
                     transmembrane region"
     misc_feature    1370..1444
                     /gene="SSTR1"
                     /gene_synonym="SRIF-2; SS-1-R; SS1-R; SS1R; SST1"
                     /note="propagated from UniProtKB/Swiss-Prot (P30872.1);
                     transmembrane region"
     misc_feature    1523..1600
                     /gene="SSTR1"
                     /gene_synonym="SRIF-2; SS-1-R; SS1-R; SS1R; SST1"
                     /note="propagated from UniProtKB/Swiss-Prot (P30872.1);
                     transmembrane region"
     misc_feature    1622..1693
                     /gene="SSTR1"
                     /gene_synonym="SRIF-2; SS-1-R; SS1-R; SS1R; SST1"
                     /note="propagated from UniProtKB/Swiss-Prot (P30872.1);
                     transmembrane region"
     regulatory      4363..4368
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SSTR1"
                     /gene_synonym="SRIF-2; SS-1-R; SS1-R; SS1R; SST1"
                     /note="hexamer: AATAAA"
     polyA_site      4390
                     /gene="SSTR1"
                     /gene_synonym="SRIF-2; SS-1-R; SS1-R; SS1R; SST1"
                     /note="major polyA site"
ORIGIN
        1 agctcacaaa tcaagcctca gaaagagctg acatcctagc tcttcccgga aaaactcgaa
       61 tgtcgccctg ccgttcctgg ggttggtgac aggtctggtc atcgcacggc ggcagctcct
      121 cacctggatt tagaagagct ggcgtccccg cccgcccaag cctttaaact ctcgtctgcc
      181 agaacccgcc aactctccag gcttagggcc agtttccgcg attctaagag taattgcgtg
      241 ggcacctgtg ctggggccag gcgcaaagaa gggagttggt ctgcgcgaag atcgtcaacc
      301 tgctaacaga ccgcacatgc actttgcacc gaccatctac gtctcagtct ggaggttgcg
      361 cactttggct gctgacgcgc tggtggtgcc tattaatcat ttaccagtcc agagccgcgc
      421 cagttaatgg ctgtgccgtg cggtgctccc acatcctggc ctctcctctc cacggtcgcc
      481 tgtgcccggg caccccggag ctgcaaactg cagagcccag gcaaccgctg ggctgtgcgc
      541 cccgccggcg ccggtaggag ccgcgctccc cgcagcggtt gcgctctacc cggaggcgct
      601 gggcggctgt gggctgcagg caagcggtcg ggtggggagg gagggcgcag gcggcgggtg
      661 cgcgaggaga aagccccagc cctggcagcc ccactggccc ccctcagctg ggatgttccc
      721 caatggcacc gcctcctctc cttcctcctc tcctagcccc agcccgggca gctgcggcga
      781 aggcggcggc agcaggggcc ccggggccgg cgctgcggac ggcatggagg agccagggcg
      841 aaatgcgtcc cagaacggga ccttgagcga gggccagggc agcgccatcc tgatctcttt
      901 catctactcc gtggtgtgcc tggtggggct gtgtgggaac tctatggtca tctacgtgat
      961 cctgcgctat gccaagatga agacggccac caacatctac atcctaaatc tggccattgc
     1021 tgatgagctg ctcatgctca gcgtgccctt cctagtcacc tccacgttgt tgcgccactg
     1081 gcccttcggt gcgctgctct gccgcctcgt gctcagcgtg gacgcggtca acatgttcac
     1141 cagcatctac tgtctgactg tgctcagcgt ggaccgctac gtggccgtgg tgcatcccat
     1201 caaggcggcc cgctaccgcc ggcccaccgt ggccaaggta gtaaacctgg gcgtgtgggt
     1261 gctatcgctg ctcgtcatcc tgcccatcgt ggtcttctct cgcaccgcgg ccaacagcga
     1321 cggcacggtg gcttgcaaca tgctcatgcc agagcccgct caacgctggc tggtgggctt
     1381 cgtgttgtac acatttctca tgggcttcct gctgcccgtg ggggctatct gcctgtgcta
     1441 cgtgctcatc attgctaaga tgcgcatggt ggccctcaag gccggctggc agcagcgcaa
     1501 gcgctcggag cgcaagatca ccttaatggt gatgatggtg gtgatggtgt ttgtcatctg
     1561 ctggatgcct ttctacgtgg tgcagctggt caacgtgttt gctgagcagg acgacgccac
     1621 ggtgagtcag ctgtcggtca tcctcggcta tgccaacagc tgcgccaacc ccatcctcta
     1681 tggctttctc tcagacaact tcaagcgctc tttccaacgc atcctatgcc tcagctggat
     1741 ggacaacgcc gcggaggagc cggttgacta ttacgccacc gcgctcaaga gccgtgccta
     1801 cagtgtggaa gacttccaac ctgagaacct ggagtccggc ggcgtcttcc gtaatggcac
     1861 ctgcacgtcc cggatcacga cgctctgagc ccgggccacg caggggctct gagcccgggc
     1921 cacgcagggg ccctgagcca aaagaggggg agaatgagaa gggaaggccg ggtgcgaaag
     1981 ggacggtatc cagggcgcca gggtgctgtc gggataacgt ggggctagga cactgacagc
     2041 ctttgatgga ggaacccaag aaaggcgcgc gacaatggta gaagtgagag ctttgcttat
     2101 aaactgggaa ggctttcagg ctaccttttt ctgggtctcc cactttctgt tccttcctcc
     2161 actgcgctta ctcctctgac cctccttcta ttttccctac cctgcaactt ctatcctttc
     2221 ttccgcaccg tcccgccagt gcagatcacg aactcattaa caactcattc tgatcctcag
     2281 cccctccagt cgttatttct gtttgtttaa gctgagccac ggataccgcc acgggtttcc
     2341 ctcggcgtta gtccctagcc gcgcggggcc gctgtccagg ttctgtctgg tgcccctact
     2401 ggagtcccgg gaatgaccgc tctccctttg cgcagcccta ccttaaggaa agttggactt
     2461 gagaaagatc taagcagctg gtcttttctc ctactcttgg gtgaaggtgc atctttccct
     2521 gccctcccct gtccccctct cgccgcccgc ccgccaccac cactctcact ccacccagag
     2581 tagagccagg tgcttagtaa aataggtccc gcgcttcgaa ctccaggctt tctggagttc
     2641 ccacccaagc cctcctttgg agcaaagaag gagctgagaa caagccgaat gaggagtttt
     2701 tataagattg cggggtcgga gtgtgggcgc gtaataggaa tcaccctcct actgcgcgtt
     2761 ttcaaagacc aagcgctggg cgctcccggg ccgcgcgtct gcgttaggca gggcagggta
     2821 gtgcagggca caccttcccc ggggttcggg gttcggggtt cggttgcagg gctgcagccc
     2881 gccttggctt tctccctcac ccaagtttcc ggaggagccg acctaaaagt aacaatagat
     2941 aaggtttcct gctccagtgt atctcaaaag accgggcgcc aggggcgggg gacctagggc
     3001 gacgtcttca gagtccgcca gtgttggcgg tgtcgccgca acctgcaggc tcccgagtgg
     3061 ggcctgcctg gtctctagag ggttgctgcc tttcaagcgg tgcctaagaa gttattttct
     3121 tgtttaacat atatatttat taatttattt gtcgtgttgg aaaatgtgtc tctgctttcc
     3181 ttttctctgc ttgcctagcc ccaggtcttt tctttgggac cctgggggcg ggcatggaag
     3241 tggaagtagg ggcaagctct tgccccactc cctggccatc tcaacgcctc tcctcaatgc
     3301 tgggccctct tatctcatcc tttcctctag cttttctatt tttgattgtg ttgagtgaag
     3361 tttggagatt tttcatactt ttcttactat agtctcttgt ttgtcttatt aggataatac
     3421 ataaatgata atgtgggtta tcctcctctc catgcacagt ggaaagtcct gaactcctgg
     3481 ctttccagga gacatatata ggggaacatc accctatata taatttgagt gtatatatat
     3541 ttatatatat gatgtggaca tatgtatact tatcttgctc cattgtcatg agtccatgag
     3601 tctaagtata gccactgatg gtgacaggtg tgagtctggc tggaacactt tcagtttcag
     3661 gagtgcaagc agcactcaaa cctggagctg aggaatctaa ttcagacaga gactttaatc
     3721 actgctgaag atgcccctgc tccctctggg ttccagcaga ggtgattctt acatatgatc
     3781 cagttaacat catcactttt tttgaggaca ttgaaagtga aataatttgt gtctgtgttt
     3841 aatattacca actacattgg aagcctgagc agggcgagga ccaataattt taattattta
     3901 tatttcctgt attgctttag tatgctggct tgtacatagt aggcactaaa tacatgtttg
     3961 ttggttgatt gtttaagcca gagtgtatta caacaatctg gagatactaa atctggggtt
     4021 ctcaggttca ctcattgaca tgatatacaa tggttaaaat cactattgaa aaatacgttt
     4081 tgtgtatatt tgcttcaaca actttgtgct ttcctgaaag cagtaaccaa gagttaagat
     4141 atccctaatg ttttgcttaa actaatgaac aaatatgctt tgggtcataa atcagaaagt
     4201 ttagatctgt cccttaataa aaatatatat tactactcct ttggaaaata gatttttaat
     4261 ggttaagaac tgtgaaattt acaaatcaaa atcttaatca ttatccttct aagaggatac
     4321 aaatttagtg ctcttaactt gttaccattg taatattaac taaataaaca gatgtattat
     4381 gctgttgcaa
//
LOCUS       NM_001050               7685 bp    mRNA    linear   PRI 24-SEP-2023
DEFINITION  Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.
ACCESSION   NM_001050
VERSION     NM_001050.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7685)
  AUTHORS   Fischer A, Kloos S, Maccio U, Friemel J, Remde H, Fassnacht M,
            Pamporaki C, Eisenhofer G, Timmers HJLM, Robledo M, Fliedner SMJ,
            Wang K, Maurer J, Reul A, Zitzmann K, Bechmann N, Zygiene G, Richter
            S, Hantel C, Vetter D, Lehmann K, Mohr H, Pellegata NS, Ullrich M,
            Pietzsch J, Ziegler CG, Bornstein SR, Kroiss M, Reincke M, Pacak K,
            Grossman AB, Beuschlein F and Nolting S.
  TITLE     Metastatic Pheochromocytoma and Paraganglioma: Somatostatin Receptor
            2 Expression, Genetics, and Therapeutic Responses
  JOURNAL   J Clin Endocrinol Metab 108 (10), 2676-2685 (2023)
   PUBMED   36946182
  REMARK    GeneRIF: Metastatic Pheochromocytoma and Paraganglioma: Somatostatin
            Receptor 2 Expression, Genetics, and Therapeutic Responses.
REFERENCE   2  (bases 1 to 7685)
  AUTHORS   Klomp MJ, Refardt J, van Koetsveld PM, Campana C, Dalm SU, Dogan F,
            van Velthuysen MF, Feelders RA, de Herder WW, Hofland J and Hofland
            LJ.
  TITLE     Epigenetic regulation of SST2 expression in small intestinal
            neuroendocrine tumors
  JOURNAL   Front Endocrinol (Lausanne) 14, 1184436 (2023)
   PUBMED   37223009
  REMARK    GeneRIF: Epigenetic regulation of SST2 expression in small
            intestinal neuroendocrine tumors. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 7685)
  AUTHORS   Watanabe H, Fujishima F, Unno M, Sasano H and Suzuki T.
  TITLE     Somatostatin receptor 2 in 10 different types of human
            non-neoplastic gastrointestinal neuroendocrine cells
  JOURNAL   Pathol Res Pract 244, 154418 (2023)
   PUBMED   36989844
  REMARK    GeneRIF: Somatostatin receptor 2 in 10 different types of human
            non-neoplastic gastrointestinal neuroendocrine cells.
REFERENCE   4  (bases 1 to 7685)
  AUTHORS   Hu HF, Hu YH, Xu XW, Ye Z, Lou X, Zhang WH, Chen XM, Zhang Y, Yu XJ,
            Gao HL, Xu JY and Ji SR.
  TITLE     Role of Somatostatin Receptor 2 in Nonfunctional Pancreatic
            Neuroendocrine Tumors: Clinicopathological Analysis of 223 Cases and
            Whole Exome Sequencing of a Multifocal Case
  JOURNAL   Pancreas 51 (10), 1404-1410 (2022)
   PUBMED   37099786
  REMARK    GeneRIF: Role of Somatostatin Receptor 2 in Nonfunctional Pancreatic
            Neuroendocrine Tumors: Clinicopathological Analysis of 223 Cases and
            Whole Exome Sequencing of a Multifocal Case.
REFERENCE   5  (bases 1 to 7685)
  AUTHORS   Wang A, Yuan Y, Chu H, Gao Y, Jin Z, Jia Q and Zhu B.
  TITLE     Somatostatin Receptor 2: A Potential Predictive Biomarker for Immune
            Checkpoint Inhibitor Treatment
  JOURNAL   Pathol Oncol Res 28, 1610196 (2022)
   PUBMED   35264912
  REMARK    GeneRIF: Somatostatin Receptor 2: A Potential Predictive Biomarker
            for Immune Checkpoint Inhibitor Treatment. Publication Status:
            Online-Only
REFERENCE   6  (bases 1 to 7685)
  AUTHORS   Reubi JC, Waser B, Schaer JC and Markwalder R.
  TITLE     Somatostatin receptors in human prostate and prostate cancer
  JOURNAL   J Clin Endocrinol Metab 80 (9), 2806-2814 (1995)
   PUBMED   7673428
REFERENCE   7  (bases 1 to 7685)
  AUTHORS   Kagimoto S, Yamada Y, Kubota A, Someya Y, Ihara Y, Yasuda K, Kozasa
            T, Imura H, Seino S and Seino Y.
  TITLE     Human somatostatin receptor, SSTR2, is coupled to adenylyl cyclase
            in the presence of Gi alpha 1 protein
  JOURNAL   Biochem Biophys Res Commun 202 (2), 1188-1195 (1994)
   PUBMED   7914078
REFERENCE   8  (bases 1 to 7685)
  AUTHORS   Fujita T, Yamaji Y, Sato M, Murao K and Takahara J.
  TITLE     Gene expression of somatostatin receptor subtypes, SSTR1 and SSTR2,
            in human lung cancer cell lines
  JOURNAL   Life Sci 55 (23), 1797-1806 (1994)
   PUBMED   7968260
REFERENCE   9  (bases 1 to 7685)
  AUTHORS   Patel YC, Greenwood M, Kent G, Panetta R and Srikant CB.
  TITLE     Multiple gene transcripts of the somatostatin receptor SSTR2: tissue
            selective distribution and cAMP regulation
  JOURNAL   Biochem Biophys Res Commun 192 (1), 288-294 (1993)
   PUBMED   8386508
REFERENCE   10  (bases 1 to 7685)
  AUTHORS   Yamada Y, Post SR, Wang K, Tager HS, Bell GI and Seino S.
  TITLE     Cloning and functional characterization of a family of human and
            mouse somatostatin receptors expressed in brain, gastrointestinal
            tract, and kidney
  JOURNAL   Proc Natl Acad Sci U S A 89 (1), 251-255 (1992)
   PUBMED   1346068
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.210081.1,
            SRR3476690.1098190.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000357585.4/ ENSP00000350198.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC097641.6, BC019610.1 and
            BC000256.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001050.2.
            Summary: Somatostatin acts at many sites to inhibit the release of
            many hormones and other secretory proteins. The biologic effects of
            somatostatin are probably mediated by a family of G protein-coupled
            receptors that are expressed in a tissue-specific manner. SSTR2 is
            a member of the superfamily of receptors having seven transmembrane
            segments and is expressed in highest levels in cerebrum and kidney.
            [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..7685
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..7685
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="somatostatin receptor 2"
                     /db_xref="GeneID:6752"
                     /db_xref="HGNC:HGNC:11331"
                     /db_xref="MIM:182452"
     misc_feature    360..362
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="upstream in-frame stop codon"
     CDS             372..1481
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="SS2R; SRIF-1"
                     /codon_start=1
                     /product="somatostatin receptor type 2"
                     /protein_id="NP_001041.1"
                     /db_xref="CCDS:CCDS11691.1"
                     /db_xref="GeneID:6752"
                     /db_xref="HGNC:HGNC:11331"
                     /db_xref="MIM:182452"
                     /translation="MDMADEPLNGSHTWLSIPFDLNGSVVSTNTSNQTEPYYDLTSNAV
                     LTFIYFVVCIIGLCGNTLVIYVILRYAKMKTITNIYILNLAIADELFMLGLPFLAMQVA
                     LVHWPFGKAICRVVMTVDGINQFTSIFCLTVMSIDRYLAVVHPIKSAKWRRPRTAKMIT
                     MAVWGVSLLVILPIMIYAGLRSNQWGRSSCTINWPGESGAWYTGFIIYTFILGFLVPLT
                     IICLCYLFIIIKVKSSGIRVGSSKRKKSEKKVTRMVSIVVAVFIFCWLPFYIFNVSSVS
                     MAISPTPALKGMFDFVVVLTYANSCANPILYAFLSDNFKKSFQNVLCLVKVSGTDDGER
                     SDSKQDKSRLNETTETQRTLLNGDLQTSI"
     misc_feature    396..398
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30874.1); glycosylation site"
     misc_feature    435..437
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30874.1); glycosylation site"
     misc_feature    456..458
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30874.1); glycosylation site"
     misc_feature    465..467
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P30874.1); glycosylation site"
     misc_feature    501..572
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="propagated from UniProtKB/Swiss-Prot (P30874.1);
                     transmembrane region"
     misc_feature    606..680
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="propagated from UniProtKB/Swiss-Prot (P30874.1);
                     transmembrane region"
     misc_feature    636..638
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="Important for ligand binding; propagated from
                     UniProtKB/Swiss-Prot (P30874.1); other site"
     misc_feature    726..785
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="propagated from UniProtKB/Swiss-Prot (P30874.1);
                     transmembrane region"
     misc_feature    855..914
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="propagated from UniProtKB/Swiss-Prot (P30874.1);
                     transmembrane region"
     misc_feature    993..1058
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="propagated from UniProtKB/Swiss-Prot (P30874.1);
                     transmembrane region"
     misc_feature    1131..1205
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="propagated from UniProtKB/Swiss-Prot (P30874.1);
                     transmembrane region"
     misc_feature    1236..1280
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="propagated from UniProtKB/Swiss-Prot (P30874.1);
                     transmembrane region"
     misc_feature    1392..1394
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P30680; propagated from
                     UniProtKB/Swiss-Prot (P30874.1); phosphorylation site"
     misc_feature    1398..1400
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P30680; propagated from
                     UniProtKB/Swiss-Prot (P30874.1); phosphorylation site"
     misc_feature    1413..1415
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P30680; propagated from
                     UniProtKB/Swiss-Prot (P30874.1); phosphorylation site"
     misc_feature    1428..1430
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P30680; propagated from
                     UniProtKB/Swiss-Prot (P30874.1); phosphorylation site"
     misc_feature    1431..1433
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P30680; propagated from
                     UniProtKB/Swiss-Prot (P30874.1); phosphorylation site"
     regulatory      6026..6031
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="hexamer: AATAAA"
     polyA_site      6051
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="major polyA site"
     regulatory      7660..7665
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="hexamer: ATTAAA"
     polyA_site      7685
                     /gene="SSTR2"
                     /gene_synonym="SST2"
                     /note="major polyA site"
ORIGIN
        1 agtcccagcg gcgcagccac ccatgcgcgc gcgctcgcaa gaccaccagc gcccagagcc
       61 ccagtctgag gcttggcgcc gggggtctgc gggcgagggg agctctctac gtgcgagggg
      121 ctagcgggag ccggcacaag agggtcgagg agccaggaac cccaaacgtc cggcgccagg
      181 cgctagccaa gctgctgcgc gccccggcgc ccagctggct cggggacagc cgctgggtgt
      241 cggagaccgg agctagcgga ttgcagcgga aaagcaaaga tgtcacactg gatccttggc
      301 ctccagggtc cattaaggtg agaataagat ctctgggctg gctggaacta gcctaagact
      361 gaaaagcagc catggacatg gcggatgagc cactcaatgg aagccacaca tggctatcca
      421 ttccatttga cctcaatggc tctgtggtgt caaccaacac ctcaaaccag acagagccgt
      481 actatgacct gacaagcaat gcagtcctca cattcatcta ttttgtggtc tgcatcattg
      541 ggttgtgtgg caacacactt gtcatttatg tcatcctccg ctatgccaag atgaagacca
      601 tcaccaacat ttacatcctc aacctggcca tcgcagatga gctcttcatg ctgggtctgc
      661 ctttcttggc tatgcaggtg gctctggtcc actggccctt tggcaaggcc atttgccggg
      721 tggtcatgac tgtggatggc atcaatcagt tcaccagcat cttctgcctg acagtcatga
      781 gcatcgaccg atacctggct gtggtccacc ccatcaagtc ggccaagtgg aggagacccc
      841 ggacggccaa gatgatcacc atggctgtgt ggggagtctc tctgctggtc atcttgccca
      901 tcatgatata tgctgggctc cggagcaacc agtgggggag aagcagctgc accatcaact
      961 ggccaggtga atctggggct tggtacacag ggttcatcat ctacactttc attctggggt
     1021 tcctggtacc cctcaccatc atctgtcttt gctacctgtt cattatcatc aaggtgaagt
     1081 cctctggaat ccgagtgggc tcctctaaga ggaagaagtc tgagaagaag gtcacccgaa
     1141 tggtgtccat cgtggtggct gtcttcatct tctgctggct tcccttctac atattcaacg
     1201 tttcttccgt ctccatggcc atcagcccca ccccagccct taaaggcatg tttgactttg
     1261 tggtggtcct cacctatgct aacagctgtg ccaaccctat cctatatgcc ttcttgtctg
     1321 acaacttcaa gaagagcttc cagaatgtcc tctgcttggt caaggtgagc ggcacagatg
     1381 atggggagcg gagtgacagt aagcaggaca aatcccggct gaatgagacc acggagaccc
     1441 agaggaccct cctcaatgga gacctccaaa ccagtatctg aactgcttgg ggggtgggaa
     1501 agaaccaagc catgctctgt ctactggcaa tgggctccct acccacactg gcttcctgcc
     1561 tcccacccct cacacctggc ttctagaata gaggattgct cagcatgagt ccaattcaga
     1621 gaacggtgtt tgagtcagct tgtctgattg aatgataatg tgctaaattg attacctccc
     1681 ccttaaagcg aacactgaaa tgcaggtaga caattcaaag tctggagaag agggatcatg
     1741 cctggatatg atctttagaa acaacaaaaa tagaaaaaaa taagtatctg tgtgtttgtg
     1801 tattgaaaac tcaatatgta atcttgtgtt tttatatgta tacttgtata ttcctattta
     1861 ttctctgtat aggcattacc tacgttcctg tgtttacata cacaagtagc aaattcgagt
     1921 atgcatagtg tagatggaca tttgccacaa cacactgccc gcagaaatgg acttaccgtg
     1981 aagccaataa agttcaagct tcagggatct ctcttgcacg ggccttgcca aggcccagga
     2041 gggacttggg cagtatgttc atgtggtcat atgtttttgt aaaaaattgt gaaagtaaga
     2101 tatgtttgta ttgtttttct taaagaggaa cctcgtataa gcttcaagcc tcacaaacct
     2161 tctagcctct gcccttgggg atttgcttca ttaatttcag gcaagtgagg tcaatgtaag
     2221 aagggaaagg gagaagatat ttgaagaacc agaatgtaaa ttcatgtgtt tccacttctc
     2281 agatatagtc agagaattat tcatttgccc aaaaggactt aagtggttgt ggtcatccat
     2341 cattgtattt atcaagacaa agccaacttt gttataagat tgcatttttt tcttttcaaa
     2401 ttgctttagt ttttcttagg gagctatgag ggggaaaaat cactaacatg aaaggcaaaa
     2461 aatggactat gattcctgtg gggaaacaat ttcattctct ccatcgtgaa aataagtgaa
     2521 taagagtgaa gcaaaattac acctttatga gaaaccataa aattgttttt atttttcagg
     2581 ccagacatag cttcctaatg aaagaaaatg gaaatgtaat tcgacgactc ctcaaagggg
     2641 actttagagg acttcataca aagctgggca ttaagaaaac cacaatgcat ggccgggcgt
     2701 ggtggcttac acctgtaatc ccagcacttt gggaggccga ggtgggtgga tcacccgagg
     2761 tcaggagttc gagaccagcc tggccaacat ggtgaaaccc catcactact aaaaatatgt
     2821 aaattagtcg ggcgtggtgt cacgtgcctg taatcctagc tgctcgggag gctgaggcag
     2881 gagaatcact tgaacttggg aggtggaggt tgcagtaagc tgagattgtg ccactgcact
     2941 ctagcctgag caacaagagc aaaactcagt ctcaaaaaaa aaaaaaaaaa aaaaaaaaaa
     3001 aaaaaaaaag gaaaaccaca atgcgtacta aagaccagaa gacattgttc acaaaacaaa
     3061 agcaccctca cctgccaatg aatatgcagc gtgcaggggg tgtggtgtga gtgttggtgg
     3121 ggccccacct ctcggagata ctgctgtgct gccttcctca ctgactgtat acatagtaac
     3181 tgtcatatct ttaatgccat ggactcactg agccgctctg caaggactat tgtagacagg
     3241 cacttcacac cataaagtgg catttttttc gttccccaaa ctgacattta caagcgataa
     3301 gaaaagagac aatatccatt tcattgactg atcattttct agagtatgaa gaaatacaca
     3361 cctgggtgtc tgcaaggatg tcatcatctt tgggtttcat ctgagagcat cactcagcat
     3421 ctcacacata gatgttacca tatttttaaa tgagctttcc tcatccggct ccctaagcaa
     3481 gcgctgttgg ccggtgggag tgactaagtg ctccacctgt gggtgtcctt cttaatgtgc
     3541 tgcttttgtt ctgtataaat tcacaccacc tcactcccaa aagtacttcc tgtggctcag
     3601 aaaaatatgt tcaataagat tttggataga taaatccata caaaaataaa aagaggtata
     3661 gttataaaac aagactacag aaaaagttgt ggcagaaatt gcatgcagga aaatcccaca
     3721 ccattagtaa aagtaaggtc aactgtaagt tcagctcagg gcttcctagc agccatgttt
     3781 agcgaagtgt gatttttttt tttaaacaaa aacaagcaaa gatttggaag aaaatgcttt
     3841 agacctaact ttacaattat tataacataa gatgttccag ggtccttgaa taaatgctga
     3901 gttttaggga aatgattcca agggaccaag aattggtaga aataatttca aggcagagaa
     3961 gactaattct acaggccggg cgtggtggct tatgcctgta atcccacact ttgggaggct
     4021 gaggtgggtg gattgcctga ggtcaagagt tcaagaccag cctggccaac atggtgaaac
     4081 cctgtctcta ctaaaaatac aaaaaattac ccaggcatgg tggcgggcgc ctgtaatccc
     4141 agctacttgg gaggctgaga caggagaatg gcttgaaccc aggaggtgga gattgcggtg
     4201 agctgagatc gtgccattgc actccagcct gggcaacaag agcgaaactt catctcaaaa
     4261 aaaaaaaaca aagactaatt ctatagtacc catgaccctg caaccagaga aactgcctgt
     4321 agggaggcca gagtccaaag cagccacctg taacctgaaa atgaaacgca gacccaggca
     4381 tctgtgggtc ttcatcagca ggatgaccat tctaaggcta aaagacaggc ctttaaatct
     4441 gatgctataa ttccatccaa atacacagtt aggtttctac catagggaaa gctattctct
     4501 actttttgaa gtatctgttt caaagataac ttgctctctg gttctctttt atctaaaaga
     4561 gagaatcaac atgctaattt aaaggttaac atcattttaa ttcaaaaatt ttagtctcca
     4621 ttccatattt aatgatgaag acaaatctgc tgggtgctgg gagggaataa aaagtaatgc
     4681 accccattga tttcagagta tctgatcact tgggttatgc aagctgctac ttacccgcca
     4741 ttagcatggg tagttaagtg ctgattaaac ctaagtggac tcagtgaaaa agatattggg
     4801 aaaaataata tgatattgtg gcctatgttg aatgatgtta gcttgtgttt cagtaacaga
     4861 gttgggtaat actggacgtg tagatgaagc tttagcaggg ctgggcacgg tggctcatgc
     4921 ctgtaatccc agcactttgg gaggctgagg cgggtggatt acctgaggtc aggagttcaa
     4981 gaccagcctg gccaacatgg ggaaaccctg tctctactaa gaatacaaaa attagctggg
     5041 tgtggtggcg tgtgcctgta atcccagcta ctcaggaggc tgagacagga gaatcgcttg
     5101 aacccgggag gcgaaggttg cagtgagcca agatcgcgcc actgcacttc agcctgggtg
     5161 acagcacaag actccatctc aaaaaaaaaa aaaaaaggaa gaagaaaaag aaacttaagt
     5221 ggggttcata catagcatgg cagagggaca ctggagaata aaatggcatg cagagaggaa
     5281 cacgcgggcc agtggatgag gcttctagac ctggcagtga actggagtct atttgcttac
     5341 acaaatttaa ccttctctcc atgatggaat acaagtgttt cttgccaaaa ctcgcagccc
     5401 cagctgccct agatgaggag caccgtgctg gaaaagtgca caggctgatc acagagacag
     5461 gtaggaagca atggactgtt aaaatgcatg ttccgggctg gggatggtgg ctcacacctg
     5521 tgatctcagc actttgggag gccgaggctg gggaatcgct tgagcccagg attttgagac
     5581 tagcctaggc aatatggtga gaccctgccc ttaaaaaaaa aaaagaaaag aaaagaaaag
     5641 aaaaaaagat tcatattcct gatcagctct gaatgtgact attcaatgaa gacagtaaag
     5701 ttacagtgta aggcacacat gacctttggc cttgctaaag aagagtggct gaaggtctag
     5761 caaattaatg cttgtcttag gttacctgtt gatttaaaaa caacaacaac aaaaacccat
     5821 aaaaatagta aaatataaaa acaaattagt gttttataga ccctggggaa aagaattttc
     5881 agcaaagtac aaaaatttaa agcattcctt tctttaattt tgtaattctt tactgtagaa
     5941 cagctcaaaa tatcagttct gttttaagta acagaattga taactgagca gggaaacgta
     6001 atttggattg taaaattctt gctttaataa aaattcttta aacagtcaaa atagaaagaa
     6061 agaaagaaag gtggcaagag aattatcaaa agtttccata gatggttggg aagatctgat
     6121 tagtgtttcc aaaatgctta tcattctaag aatcccaata gctggcaagc caagcagtgg
     6181 aacttatagt aacaacaatc aatcacttgt ctcatcccac atttttgcca aattcaaaaa
     6241 caccaaattt cccatcaaat gttctgtcag agtaaacctt tacctaagtg cttgttttgc
     6301 ttttaatatg tgaatttctg ggaacattcc catgggcagc ctctaatttt tttttttttt
     6361 ttttgagaca gagtttcgct ttttcaccca ggctggagcg cagtggcacg atcttggctc
     6421 actgcaacct ccacctaccg gattcaagtg attctcctgc ctcagcctcc caagtagcag
     6481 ggactacagg cacgtgccac cacgcccagc taatttttgt atttttagtg gagatgggtt
     6541 tttgccatgt tggccaggca ggtcttgaac tcttgacctc aggtgatccg cctgcctcag
     6601 tgtcccaaag tgttgggatt acaggcacga gccaccgcgc tcagccaatt tttcctcaac
     6661 tctctctttc ctggacgggc tgcgttgggg ggaggtgcag ggaaagaaca cctctttgct
     6721 tagacattgg tgtcgacagt ggggatacta agttcatctc ctgatcctgc taggcctgga
     6781 agcaggaaag aaatgtcctg gttagagata aaattgttct atccttttag aaaagcctgt
     6841 taaggaatat gatgcaaagc caccttcgac gaaatctgaa atgatacccc acagccttgt
     6901 ccaccccaat tattcagtga cagggctcca gttgcttaag ccatagagaa ggcccctttg
     6961 cagtgggagt cactgaagac agaaagggaa gcccaggatg aacccagtcc taagggctgc
     7021 tgggggccac caaataagac tgttttagcc ctggacacag agggagacac agtcatccca
     7081 gatccttaca aagaatacat tgccaaggac cccgaaggaa atctgcttgt cttaagagag
     7141 gaagacccac gaccagctct ctgggactac ctgtcaactc agcaggtgca gccagggagc
     7201 agccatgctt cttctgccct cccagtaggc tgggctatca gttcctggga ggggtcctgt
     7261 ccccatgtaa ggggatatgt acattgctga gtacgctgat atctttttca tgggtatgat
     7321 tttttaacaa gaaagctaaa tggttctcgt gtaacataac tgatatagtt tggctgtgtc
     7381 cccacccaaa tcttatcttg aactgcagct cccataatcc ccaggtgttg tgggagggac
     7441 ccagtgggag gtaattgaat catgggggtg gttaccgcca tgctgttctc gtgatagcga
     7501 gtgagttctc acgagatctg atggttttat aaggggcttt ccccctcctt cgctctgcac
     7561 ttctccttgc tgccatgcga agaaggatgt gtttgcttcc ccttctgcca tgattgtaag
     7621 tttcctgagg cctccccagc catgttaaac tttgagttaa ttaaacctct ttcctttata
     7681 aatta
//
LOCUS       NM_001051               4256 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens somatostatin receptor 3 (SSTR3), transcript variant 1,
            mRNA.
ACCESSION   NM_001051
VERSION     NM_001051.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4256)
  AUTHORS   Barbeito P, Tachibana Y, Martin-Morales R, Moreno P, Mykytyn K,
            Kobayashi T and Garcia-Gonzalo FR.
  TITLE     HTR6 and SSTR3 ciliary targeting relies on both IC3 loops and
            C-terminal tails
  JOURNAL   Life Sci Alliance 4 (3), e202000746 (2020)
   PUBMED   33372037
  REMARK    GeneRIF: HTR6 and SSTR3 ciliary targeting relies on both IC3 loops
            and C-terminal tails. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4256)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 4256)
  AUTHORS   Badgandi HB, Hwang SH, Shimada IS, Loriot E and Mukhopadhyay S.
  TITLE     Tubby family proteins are adapters for ciliary trafficking of
            integral membrane proteins
  JOURNAL   J Cell Biol 216 (3), 743-760 (2017)
   PUBMED   28154160
REFERENCE   4  (bases 1 to 4256)
  AUTHORS   Lehmann A, Kliewer A, Gunther T, Nagel F and Schulz S.
  TITLE     Identification of Phosphorylation Sites Regulating sst3 Somatostatin
            Receptor Trafficking
  JOURNAL   Mol Endocrinol 30 (6), 645-659 (2016)
   PUBMED   27101376
  REMARK    GeneRIF: the C-terminal phosphorylation motif of the human sst3
            receptor that regulates its agonist-promoted phosphorylation,
            beta-arrestin recruitment, and internalization of this clinically
            relevant receptor, is reported.
REFERENCE   5  (bases 1 to 4256)
  AUTHORS   Song KB, Kim SC, Kim JH, Seo DW, Hong SM, Park KM, Hwang DW, Lee JH
            and Lee YJ.
  TITLE     Prognostic Value of Somatostatin Receptor Subtypes in Pancreatic
            Neuroendocrine Tumors
  JOURNAL   Pancreas 45 (2), 187-192 (2016)
   PUBMED   26474434
  REMARK    GeneRIF: Data showed that the distribution of somatostatin receptor
            (SSTR) subtypes among the 199 pancreatic neuroendocrine tumors
            (PNETs) was: SSTR2 (54.8%), SSTR1 (53.3%), SSTR4 (51.8%), SSTR5
            (33.7%), and SSTR3 (28.6%).
REFERENCE   6  (bases 1 to 4256)
  AUTHORS   Law SF, Zaina S, Sweet R, Yasuda K, Bell GI, Stadel J and Reisine T.
  TITLE     Gi alpha 1 selectively couples somatostatin receptor subtype 3 to
            adenylyl cyclase: identification of the functional domains of this
            alpha subunit necessary for mediating the inhibition by somatostatin
            of cAMP formation
  JOURNAL   Mol Pharmacol 45 (4), 587-590 (1994)
   PUBMED   8183236
REFERENCE   7  (bases 1 to 4256)
  AUTHORS   Corness JD, Demchyshyn LL, Seeman P, Van Tol HH, Srikant CB, Kent G,
            Patel YC and Niznik HB.
  TITLE     A human somatostatin receptor (SSTR3), located on chromosome 22,
            displays preferential affinity for somatostatin-14 like peptides
  JOURNAL   FEBS Lett 321 (2-3), 279-284 (1993)
   PUBMED   8097479
REFERENCE   8  (bases 1 to 4256)
  AUTHORS   Yamada Y, Reisine T, Law SF, Ihara Y, Kubota A, Kagimoto S, Seino M,
            Seino Y, Bell GI and Seino S.
  TITLE     Somatostatin receptors, an expanding gene family: cloning and
            functional characterization of human SSTR3, a protein coupled to
            adenylyl cyclase
  JOURNAL   Mol Endocrinol 6 (12), 2136-2142 (1992)
   PUBMED   1337145
REFERENCE   9  (bases 1 to 4256)
  AUTHORS   Yamada Y, Post SR, Wang K, Tager HS, Bell GI and Seino S.
  TITLE     Cloning and functional characterization of a family of human and
            mouse somatostatin receptors expressed in brain, gastrointestinal
            tract, and kidney
  JOURNAL   Proc Natl Acad Sci U S A 89 (1), 251-255 (1992)
   PUBMED   1346068
REFERENCE   10  (bases 1 to 4256)
  AUTHORS   Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M and Kaziro Y.
  TITLE     Presence of three distinct molecular species of Gi protein alpha
            subunit. Structure of rat cDNAs and human genomic DNAs
  JOURNAL   J Biol Chem 263 (14), 6656-6664 (1988)
   PUBMED   2834384
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.57378.1, AK291165.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000610913.2/ ENSP00000480971.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z82188.2, AK291165.1 and
            BF514979.1.
            On Nov 23, 2018 this sequence version replaced NM_001051.4.
            Summary: This gene encodes a member of the somatostatin receptor
            protein family. Somatostatins are peptide hormones that regulate
            diverse cellular functions such as neurotransmission, cell
            proliferation, and endocrine signaling as well as inhibiting the
            release of many hormones and other secretory proteins. Somatostatin
            has two active forms of 14 and 28 amino acids. The biological
            effects of somatostatins are mediated by a family of G-protein
            coupled somatostatin receptors that are expressed in a
            tissue-specific manner. Somatostatin receptors form homodimers and
            heterodimers with other members of the superfamily as well as with
            other G-protein coupled receptors and receptor tyrosine kinases.
            This protein is functionally coupled to adenylyl cyclase. Alternate
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jul 2013].
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4256
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     gene            1..4256
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="somatostatin receptor 3"
                     /db_xref="GeneID:6753"
                     /db_xref="HGNC:HGNC:11332"
                     /db_xref="MIM:182453"
     misc_feature    663..665
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="upstream in-frame stop codon"
     CDS             690..1946
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /codon_start=1
                     /product="somatostatin receptor type 3"
                     /protein_id="NP_001042.1"
                     /db_xref="CCDS:CCDS13944.1"
                     /db_xref="GeneID:6753"
                     /db_xref="HGNC:HGNC:11332"
                     /db_xref="MIM:182453"
                     /translation="MDMLHPSSVSTTSEPENASSAWPPDATLGNVSAGPSPAGLAVSGV
                     LIPLVYLVVCVVGLLGNSLVIYVVLRHTASPSVTNVYILNLALADELFMLGLPFLAAQN
                     ALSYWPFGSLMCRLVMAVDGINQFTSIFCLTVMSVDRYLAVVHPTRSARWRTAPVARTV
                     SAAVWVASAVVVLPVVVFSGVPRGMSTCHMQWPEPAAAWRAGFIIYTAALGFFGPLLVI
                     CLCYLLIVVKVRSAGRRVWAPSCQRRRRSERRVTRMVVAVVALFVLCWMPFYVLNIVNV
                     VCPLPEEPAFFGLYFLVVALPYANSCANPILYGFLSYRFKQGFRRVLLRPSRRVRSQEP
                     TVGPPEKTEEEDEEEEDGEESREGGKGKEMNGRVSQITQPGTSGQERPPSRVASKEQQL
                     LPQEASTGEKSSTMRISYL"
     misc_feature    690..752
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="propagated from UniProtKB/Swiss-Prot (P32745.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    738..740
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P32745.1); glycosylation site"
     misc_feature    777..779
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P32745.1); glycosylation site"
     misc_feature    819..896
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="propagated from UniProtKB/Swiss-Prot (P32745.1);
                     transmembrane region"
     misc_feature    927..992
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="propagated from UniProtKB/Swiss-Prot (P32745.1);
                     transmembrane region"
     misc_feature    1038..1103
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="propagated from UniProtKB/Swiss-Prot (P32745.1);
                     transmembrane region"
     misc_feature    1173..1232
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="propagated from UniProtKB/Swiss-Prot (P32745.1);
                     transmembrane region"
     misc_feature    1305..1382
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="propagated from UniProtKB/Swiss-Prot (P32745.1);
                     transmembrane region"
     misc_feature    1461..1526
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="propagated from UniProtKB/Swiss-Prot (P32745.1);
                     transmembrane region"
     misc_feature    1569..1637
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="propagated from UniProtKB/Swiss-Prot (P32745.1);
                     transmembrane region"
     misc_feature    1683..1685
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P30936; propagated from
                     UniProtKB/Swiss-Prot (P32745.1); phosphorylation site"
     misc_feature    1692..1943
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="propagated from UniProtKB/Swiss-Prot (P32745.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1698..1700
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P30936; propagated from
                     UniProtKB/Swiss-Prot (P32745.1); phosphorylation site"
     misc_feature    1731..1733
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P30936; propagated from
                     UniProtKB/Swiss-Prot (P32745.1); phosphorylation site"
     regulatory      4236..4241
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="hexamer: AATAAA"
     polyA_site      4256
                     /gene="SSTR3"
                     /gene_synonym="SS-3-R; SS3-R; SS3R; SSR-28; SST3"
                     /note="major polyA site"
ORIGIN
        1 actccctcct tcacgggctc catgtcacca tctgtggcac agtccctctc tgtcactctc
       61 cctgccaccc cctcattctc cttcctccct cctgcctctc tctgcatctc tccctctcac
      121 ccgtgtctcc tctcctctct ttccttctcg tcttctccct gtcacgcatc tctcatcact
      181 ccccctcatt ctgcctttcc tcctactcac ggtctcctct ccctctccct ctctctctct
      241 ccccctccct ctttctctct ctctctcttt ctccacctcc tcccgacccc ctttcccctc
      301 tatttctatt ggcttctgtg tcccttgctc ccctcttctc ttcctcaccc tgggaagctt
      361 ctccccccta tccttgcccc tgccccccca ggatgtgtcc tggagatggg gggtgacgta
      421 ccaggctctg gttgggaagt cagggccgga gaccagatgg gagaggctct gtggacagcc
      481 gtggccgagg gcctgggagg gaacctgagc ccgcaagcgg tctagaagtg ggtgccttgt
      541 ggggacccta gttaggagtg ccctgggggc acctggggac tgggcaggga gaggggacag
      601 cagaatgata accagcctgg cggcaaggag ggaagccctc accccatggg caggcaaata
      661 gctgactgct gaccaccctc ccctcagcca tggacatgct tcatccatca tcggtgtcca
      721 cgacctcaga acctgagaat gcctcctcgg cctggccccc agatgccacc ctgggcaacg
      781 tgtcggcggg cccaagcccg gcagggctgg ccgtcagtgg cgttctgatc cccctggtct
      841 acctggtggt gtgcgtggtg ggcctgctgg gtaactcgct ggtcatctat gtggtcctgc
      901 ggcacacggc cagcccttca gtcaccaacg tctacatcct caacctggcg ctggccgacg
      961 agctcttcat gctggggctg cccttcctgg ccgcccagaa cgccctgtcc tactggccct
     1021 tcggctccct catgtgccgc ctggtcatgg cggtggatgg catcaaccag ttcaccagca
     1081 tattctgcct gactgtcatg agcgtggacc gctacctggc cgtggtacat cccacccgct
     1141 cggcccgctg gcgcacagct ccggtggccc gcacggtcag cgcggctgtg tgggtggcct
     1201 cagccgtggt ggtgctgccc gtggtggtct tctcgggagt gccccgcggc atgagcacct
     1261 gccacatgca gtggcccgag ccggcggcgg cctggcgagc cggcttcatc atctacacgg
     1321 ccgcactggg cttcttcggg ccgctgctgg tcatctgcct ctgctacctg ctcatcgtgg
     1381 tgaaggtgcg ctcagctggg cgccgggtgt gggcaccctc gtgccagcgg cggcggcgct
     1441 ccgaacgcag ggtcacgcgc atggtggtgg ccgtggtggc gctcttcgtg ctctgctgga
     1501 tgcccttcta cgtgctcaac atcgtcaacg tggtgtgccc actgcccgag gagcctgcct
     1561 tctttgggct ctacttcctg gtggtggcgc tgccctatgc caacagctgt gccaacccca
     1621 tcctttatgg cttcctctcc taccgcttca agcagggctt ccgcagggtc ctgctgcggc
     1681 cctcccgccg tgtgcgcagc caggagccca ctgtggggcc cccggagaag actgaggagg
     1741 aggatgagga ggaggaggat ggggaggaga gcagggaggg gggcaagggg aaggagatga
     1801 acggccgggt cagccagatc acgcagcctg gcaccagcgg gcaggagcgg ccgcccagca
     1861 gagtggccag caaggagcag cagctcctac cccaagaggc ttccactggg gagaagtcca
     1921 gcacgatgcg catcagctac ctgtaggggc ctggggaaag ccaggatggc ccgaggaaga
     1981 ggcagaagcc gtgggtgtgc ctagggccta cttcccaagg tgccacaggc ccatgatggg
     2041 atgttgaggg gcctggactt tgatgctatt gctgccaggt cttgctgtgt gaccttgggt
     2101 aggttgcttc tactctctgg gccttgtttt ctcctctgtg actcagggat aggagtcatc
     2161 agcctggatg agctatgtca gatgagaggt ttggagggca ctgttgctgg gctgacctgg
     2221 ctgagcaggc aaaaggtggg tgcagactgg cctcccccca gggatggagt gtcttggggc
     2281 atcaactaga atcttggccc tcagagggat aaaccaaggc caggatttct tgggctcaga
     2341 gtcaggaaca caggagctgc tgggggctgg gctggaaacc taaacagaag aaagcctaac
     2401 ccggtgggag gagtggggca gaaatggtca ggccccagat cagctccctc ccctcgactg
     2461 tgaggccttg gaccagctct gctcctctct aggcctcagg cttcacctgg gtaaaaccca
     2521 acaacctcta cacccttttg gcccaggcag tcaatgctgg aggtcctgtg ctcctggacg
     2581 ggaagagcag gtgaatttcc tgctcatgga agcgaatgaa gtccagcttc agggtctctc
     2641 actgcctggg cttttgcaag gccctgcatc tacttttgta cttgtcattt tgtattcgtt
     2701 ttcttaaaga gggacctcga actgcataag cttaggccac ccaaagcctg gctctgcccc
     2761 tgctgaggtc agccacccaa tccccaagga agctcatgtt gggtcttatg gctggagtag
     2821 gggcccccgg gggttcccag gtcttttgag ggcttccagg cacctccttg taggaagggc
     2881 catccctgtt cctctccttg tgacccatat tctcccttcc tggagaccga gacagggacc
     2941 cagcccatga ggactggcat ggaaaggcag agtgtctgaa gagcgctgtg aggagaagga
     3001 agaggaaggg agaagaggaa gaggaaggag aaggaagagg aagacaaggg ggaaagggga
     3061 ggatgaggag ggggaaggag aagtacagat ctgtttcctg gagccgtctt tggcccccct
     3121 gggctgagct cagtggtagc atctgtgaac ctgagttgcc gacaacagcc ccacccaacc
     3181 agtactgagg gaaggacacg atcagggtgg aacagccagg gtgcaatggc aaatgcacag
     3241 agtacagaca ggcacagggc ctgcgtccct gaggggcctc agagtgctgc caagagggct
     3301 caggccttaa taaagcccta gggtggagct ggctaccagg gacattggga ggactgggga
     3361 gctccctccc catgctctat catcctggag actacaggtc gggaggccca gggaagacaa
     3421 gaagaggctg aagtgggact gtggaggggg accatgggga gcagccacca tccaaggctg
     3481 ggcctagact ccctcccaga gatggtccct cagagctgtg gtgaggctgg ccctgggagg
     3541 gtgagacccc cggtgaaatc cttccgcttc cccacccctt gcagagggca ggggtcctca
     3601 gggaaagcac aggaaccaga cttttggaga cttggatctt cagcacacct cagggtcctg
     3661 ggctggcatt ggccttccgg gcctcaattt ccccatcaac aaatggagat gaatcccagc
     3721 ttggctgcct cctgggatct aacgagaaaa tgagtcatgt gaggtaactt ccaggctcac
     3781 tgcaatgggt acggtggggt gtatcagatt ataaagtggg ggtgccctcc tcacccccag
     3841 gcttggccta tacccccctc tccatcaagt ggcctctctg tgtctgtcct ttggggtgag
     3901 gacactgtag gccatgagaa atgggcagtt ggggggtcag aggccaaggg ttagggaggc
     3961 agggcttggg gagagtgtgg gaccatcaga agagaaggaa gtttacaaaa ccacattttg
     4021 tgtggagatg gaggctggag gcccggccct gggacttggt ctggggtttc ttgaggaaga
     4081 tctgagggtc caagggagga aggatgccct ggccttctgg ccttctctgg ctgatcctgc
     4141 cttcttgctg cctaggacag gagagtaatg tcctagaatg gtccctggga ggccagttag
     4201 gaaacccttt gctgcttctg tctctagctc ttgtcaataa agacggtgac acctga
//
LOCUS       NM_001052               3926 bp    mRNA    linear   PRI 28-DEC-2022
DEFINITION  Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.
ACCESSION   NM_001052
VERSION     NM_001052.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3926)
  AUTHORS   Nemes B, Bolcskei K, Kecskes A, Kormos V, Gaszner B, Aczel T,
            Hegedus D, Pinter E, Helyes Z and Sandor Z.
  TITLE     Human Somatostatin SST4 Receptor Transgenic Mice: Construction and
            Brain Expression Pattern Characterization
  JOURNAL   Int J Mol Sci 22 (7), 3758 (2021)
   PUBMED   33916620
  REMARK    GeneRIF: Human Somatostatin SST4 Receptor Transgenic Mice:
            Construction and Brain Expression Pattern Characterization.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3926)
  AUTHORS   Kecskes A, Pohoczky K, Kecskes M, Varga ZV, Kormos V, Szoke E,
            Henn-Mike N, Feher M, Kun J, Gyenesei A, Renner E, Palkovits M,
            Ferdinandy P, Abraham IM, Gaszner B and Helyes Z.
  TITLE     Characterization of Neurons Expressing the Novel Analgesic Drug
            Target Somatostatin Receptor 4 in Mouse and Human Brains
  JOURNAL   Int J Mol Sci 21 (20), 7788 (2020)
   PUBMED   33096776
  REMARK    GeneRIF: Characterization of Neurons Expressing the Novel Analgesic
            Drug Target Somatostatin Receptor 4 in Mouse and Human Brains.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3926)
  AUTHORS   Song KB, Kim SC, Kim JH, Seo DW, Hong SM, Park KM, Hwang DW, Lee JH
            and Lee YJ.
  TITLE     Prognostic Value of Somatostatin Receptor Subtypes in Pancreatic
            Neuroendocrine Tumors
  JOURNAL   Pancreas 45 (2), 187-192 (2016)
   PUBMED   26474434
  REMARK    GeneRIF: Data showed that the distribution of somatostatin receptor
            (SSTR) subtypes among the 199 pancreatic neuroendocrine tumors
            (PNETs) was: SSTR2 (54.8%), SSTR1 (53.3%), SSTR4 (51.8%), SSTR5
            (33.7%), and SSTR3 (28.6%).
REFERENCE   4  (bases 1 to 3926)
  AUTHORS   Pisarek H, Pawlikowski M, Marchlewska M, Minias R and Winczyk K.
  TITLE     An immunohistochemical investigation of the expression of
            somatostatin receptor subtypes - should therapeutic trials be
            performed to determine the efficacy of somatostatin analogs in
            treating advanced thyroid malignances?
  JOURNAL   Exp Clin Endocrinol Diabetes 123 (6), 342-346 (2015)
   PUBMED   25962406
  REMARK    GeneRIF: An immunohistochemical investigation of the expression of
            somatostatin receptor subtypes
REFERENCE   5  (bases 1 to 3926)
  AUTHORS   Yamamoto J, Ohnuma K, Hatano R, Okamoto T, Komiya E, Yamazaki H,
            Iwata S, Dang NH, Aoe K, Kishimoto T, Yamada T and Morimoto C.
  TITLE     Regulation of somatostatin receptor 4-mediated cytostatic effects by
            CD26 in malignant pleural mesothelioma
  JOURNAL   Br J Cancer 110 (9), 2232-2245 (2014)
   PUBMED   24743707
  REMARK    GeneRIF: this study shows that CD26 is associated with SSTR4 in
            malignant pleural mesothelioma cells, and this interaction inhibits
            SSTR4-mediated cytostatic effects.
REFERENCE   6  (bases 1 to 3926)
  AUTHORS   Yamada Y, Kagimoto S, Kubota A, Yasuda K, Masuda K, Someya Y, Ihara
            Y, Li Q, Imura H, Seino S et al.
  TITLE     Cloning, functional expression and pharmacological characterization
            of a fourth (hSSTR4) and a fifth (hSSTR5) human somatostatin
            receptor subtype
  JOURNAL   Biochem Biophys Res Commun 195 (2), 844-852 (1993)
   PUBMED   8373420
REFERENCE   7  (bases 1 to 3926)
  AUTHORS   Yasuda K, Espinosa R 3rd, Davis EM, Le Beau MM and Bell GI.
  TITLE     Human somatostatin receptor genes: localization of SSTR5 to human
            chromosome 20p11.2
  JOURNAL   Genomics 17 (3), 785-786 (1993)
   PUBMED   8244401
REFERENCE   8  (bases 1 to 3926)
  AUTHORS   Demchyshyn LL, Srikant CB, Sunahara RK, Kent G, Seeman P, Van Tol
            HH, Panetta R, Patel YC and Niznik HB.
  TITLE     Cloning and expression of a human somatostatin-14-selective receptor
            variant (somatostatin receptor 4) located on chromosome 20
  JOURNAL   Mol Pharmacol 43 (6), 894-901 (1993)
   PUBMED   8100352
REFERENCE   9  (bases 1 to 3926)
  AUTHORS   Yamada Y, Post SR, Wang K, Tager HS, Bell GI and Seino S.
  TITLE     Cloning and functional characterization of a family of human and
            mouse somatostatin receptors expressed in brain, gastrointestinal
            tract, and kidney
  JOURNAL   Proc Natl Acad Sci U S A 89 (1), 251-255 (1992)
   PUBMED   1346068
REFERENCE   10  (bases 1 to 3926)
  AUTHORS   Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M and Kaziro Y.
  TITLE     Presence of three distinct molecular species of Gi protein alpha
            subunit. Structure of rat cDNAs and human genomic DNAs
  JOURNAL   J Biol Chem 263 (14), 6656-6664 (1988)
   PUBMED   2834384
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC117270.1, SRR7410571.176220.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000255008.5/ ENSP00000255008.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL049651.2.
            On Dec 30, 2019 this sequence version replaced NM_001052.3.
            Summary: Somatostatin acts at many sites to inhibit the release of
            many hormones and other secretory proteins.  The biologic effects
            of somatostatin are probably mediated by a family of G
            protein-coupled receptors that are expressed in a tissue-specific
            manner.  SSTR4 is a member of the superfamily of receptors having
            seven transmembrane segments and is expressed in highest levels in
            fetal and adult brain and lung. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..3926
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.21"
     gene            1..3926
                     /gene="SSTR4"
                     /gene_synonym="SS-4-R; SS4-R; SS4R; SST4"
                     /note="somatostatin receptor 4"
                     /db_xref="GeneID:6754"
                     /db_xref="HGNC:HGNC:11333"
                     /db_xref="MIM:182454"
     misc_feature    56..58
                     /gene="SSTR4"
                     /gene_synonym="SS-4-R; SS4-R; SS4R; SST4"
                     /note="upstream in-frame stop codon"
     CDS             173..1339
                     /gene="SSTR4"
                     /gene_synonym="SS-4-R; SS4-R; SS4R; SST4"
                     /note="G-protein coupled receptor"
                     /codon_start=1
                     /product="somatostatin receptor type 4"
                     /protein_id="NP_001043.2"
                     /db_xref="CCDS:CCDS42856.1"
                     /db_xref="GeneID:6754"
                     /db_xref="HGNC:HGNC:11333"
                     /db_xref="MIM:182454"
                     /translation="MSAPSTLPPGGEEGLGTAWPSAANASSAPAEAEEAVAGPGDARAA
                     GMVAIQCIYALVCLVGLVGNALVIFVILRYAKMKTATNIYLLNLAVADELFMLSVPFVA
                     SSAALRHWPFGSVLCRAVLSVDGLNMFTSVFCLTVLSVDRYVAVVHPLRAATYRRPSVA
                     KLINLGVWLASLLVTLPIAIFADTRPARGGQAVACNLQWPHPAWSAVFVVYTFLLGFLL
                     PVLAIGLCYLLIVGKMRAVALRAGWQQRRRSEKKITRLVLMVVVVFVLCWMPFYVVQLL
                     NLFVTSLDATVNHVSLILSYANSCANPILYGFLSDNFRRFFQRVLCLRCCLLEGAGGAE
                     EEPLDYYATALKSKGGAGCMCPPLPCQQEALQPEPGRKRIPLTRTTTF"
     misc_feature    242..244
                     /gene="SSTR4"
                     /gene_synonym="SS-4-R; SS4-R; SS4R; SST4"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P31391.2); glycosylation site"
     misc_feature    311..391
                     /gene="SSTR4"
                     /gene_synonym="SS-4-R; SS4-R; SS4R; SST4"
                     /note="propagated from UniProtKB/Swiss-Prot (P31391.2);
                     transmembrane region"
     misc_feature    422..484
                     /gene="SSTR4"
                     /gene_synonym="SS-4-R; SS4-R; SS4R; SST4"
                     /note="propagated from UniProtKB/Swiss-Prot (P31391.2);
                     transmembrane region"
     misc_feature    533..598
                     /gene="SSTR4"
                     /gene_synonym="SS-4-R; SS4-R; SS4R; SST4"
                     /note="propagated from UniProtKB/Swiss-Prot (P31391.2);
                     transmembrane region"
     misc_feature    656..727
                     /gene="SSTR4"
                     /gene_synonym="SS-4-R; SS4-R; SS4R; SST4"
                     /note="propagated from UniProtKB/Swiss-Prot (P31391.2);
                     transmembrane region"
     misc_feature    797..868
                     /gene="SSTR4"
                     /gene_synonym="SS-4-R; SS4-R; SS4R; SST4"
                     /note="propagated from UniProtKB/Swiss-Prot (P31391.2);
                     transmembrane region"
     misc_feature    953..1012
                     /gene="SSTR4"
                     /gene_synonym="SS-4-R; SS4-R; SS4R; SST4"
                     /note="propagated from UniProtKB/Swiss-Prot (P31391.2);
                     transmembrane region"
     misc_feature    1046..1114
                     /gene="SSTR4"
                     /gene_synonym="SS-4-R; SS4-R; SS4R; SST4"
                     /note="propagated from UniProtKB/Swiss-Prot (P31391.2);
                     transmembrane region"
     regulatory      3901..3906
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SSTR4"
                     /gene_synonym="SS-4-R; SS4-R; SS4R; SST4"
                     /note="hexamer: AATAAA"
     polyA_site      3926
                     /gene="SSTR4"
                     /gene_synonym="SS-4-R; SS4-R; SS4R; SST4"
                     /note="major polyA site"
ORIGIN
        1 gggcgcgcgg cgcggggatt ggcgggcgct ccccggtgcc cgcagctctt cagcgtagcc
       61 gggaagagcc gcgcgtctgc gcgccagccc ccgccctggg cccgccgccc gagctctctg
      121 gcgcagcgct agctccgccg cgctcagctg ccctgcgccg gcacccctgg tcatgagcgc
      181 cccctcgacg ctgccccccg ggggcgagga agggctgggg acggcctggc cctctgcagc
      241 caatgccagt agcgctccgg cggaggcgga ggaggcggtg gcggggcccg gggacgcgcg
      301 ggcggcgggc atggtcgcta tccagtgcat ctacgcgctg gtgtgcctgg tggggctggt
      361 gggcaacgcc ctggtcatct tcgtgatcct tcgctacgcc aagatgaaga cggctaccaa
      421 catctacctg ctcaacctgg ccgtagccga cgagctcttc atgctgagcg tgcccttcgt
      481 ggcctcgtcg gccgccctgc gccactggcc cttcggctcc gtgctgtgcc gcgcggtgct
      541 cagcgtcgac ggcctcaaca tgttcaccag cgtcttctgt ctcaccgtgc tcagcgtgga
      601 ccgctacgtg gccgtggtgc accctctgcg cgcggcgacc taccggcggc ccagcgtggc
      661 caagctcatc aacctgggcg tgtggctggc atccctgttg gtcactctcc ccatcgccat
      721 cttcgcagac accagaccgg ctcgcggcgg ccaggccgtg gcctgcaacc tgcagtggcc
      781 acacccggcc tggtcggcag tcttcgtggt ctacactttc ctgctgggct tcctgctgcc
      841 cgtgctggcc attggcctgt gctacctgct catcgtgggc aagatgcgcg ccgtggccct
      901 gcgcgctggc tggcagcagc gcaggcgctc ggagaagaaa atcaccaggc tggtgctgat
      961 ggtcgtggtc gtctttgtgc tctgctggat gcctttctac gtggtgcagc tgctgaacct
     1021 cttcgtgacc agccttgatg ccaccgtcaa ccacgtgtcc cttatcctta gctatgccaa
     1081 cagctgcgcc aaccccattc tctatggctt cctctccgac aacttccgcc gattcttcca
     1141 gcgggttctc tgcctgcgct gctgcctcct ggaaggtgct ggaggtgctg aggaggagcc
     1201 cctggactac tatgccactg ctctcaagag caaaggtggg gcagggtgca tgtgcccccc
     1261 actcccctgc cagcaggaag ccctgcaacc agaacccggc cgcaagcgca tccccctcac
     1321 caggaccacc accttctgag gagcccttcc cctacccacc ctgcgtggcc acctcccaag
     1381 gggtgggcac cattcctaca gccccgaaga ctgcatctcc tgaatgctca cctaagctcc
     1441 accacctgtt ccttccagca gcccatgtac ctgccggaga gtgtcagaac tcttctgctg
     1501 ctctcctctc ccctgcactc tggctttcaa aaggatgctt ccatatgggt aggactcctc
     1561 tggaaactgg gctaggatat taatcattcc tgaacctctg gctgttcttc aagggctggg
     1621 aagcaggagg tggtgagaaa tgaatggtcc ctgtgtgtga ctccttacag ccactgcttg
     1681 ggagaggact caagaaggtg gagggaggta gcacccttcc tctctgcaga cgctctgcct
     1741 tgtggtggga gcacagcttg tacaggagag aggaggaagg aagatgcccc caggcacctg
     1801 ccctttatgt ctcttcctga gctcttgtta agtgagactt atgttaacag cctggggcac
     1861 ttacttccct ccccactcac ccccggcctg ggaataacat ctgcttgctg tcacaggtgt
     1921 ctccctgagt tgccctgagc tgggagcagt cttcctgtga gtagaaaagg tttggagaga
     1981 catgacatgg ggtttattgc aaggcataaa accaggtcag taataacaaa gcagatgata
     2041 aaaacttcat ctagctccta tgatgtaatt ttttttccct gatcctttga tgtgggaaca
     2101 tgagaactca ttaaggcagc aatttatact gtggtggtga gtgagagagg agccatgggc
     2161 gggaaaagct gaccagagag cagcgaggga tgggaaccag cccaggtttt ggatagagga
     2221 agcagcttca tcaccacccc ctattttaga atgtcatctt tcagtaaaac atcagccaca
     2281 ttagatatta acatgtaagt tgaacacaat aaaaggccgt atctttgttg cctgatgtgt
     2341 taaccaaagg ataaattatc tttcccaaag ggaaagagct taagaggagc tctaattctg
     2401 ctttctgata aaagcagggg aggggacaaa ggagaacttg gaacacttat gttagcatct
     2461 ggtgtaacaa cataggaaca tgtatgaagt ttgggggacc ccacctggct tagcattcag
     2521 agactacctc tgggtttaac cggcctgatt ctggatgatc attctggtgg tatggggaag
     2581 atggtgtggg gagggggaga gacagccaaa ggtcaacacc ctatgccctt cagagtggtc
     2641 agcctcacag accactctga gagaatgggt agccatgtct gtactacata ctggagacat
     2701 gactgtggaa tggaagtttc aaaactaagt cagagaaccc tctgatcctg caaacacaca
     2761 tgcacacaca cagagacatc aaccatctct aatttgttgg cacccaccag ggataccttg
     2821 ggcatctgaa gtcagtctcc atgtctgtgg gtctcgtgta accataacta cttggagttt
     2881 tttaaaactg cattatttct ttgttcctca gtgtctgaca atgcctgcca ggatgggcac
     2941 tgatgaatat ggttgaacgg aactccaagg accacccagg ttgatagtag tgaggtgagg
     3001 ggttcacagc actggcagtg gtccccaggg cttcttccca gcttgtacgt ggggttgggg
     3061 gtcctttctt tagtctctca gtgatcagac tgggcaaact ctctgataag caagacaggg
     3121 cacctaccag gagtcttggc aacactagtg tgtggctgcc cagattagca tggaataaga
     3181 cacattctat ttagaaatgt cagccttttt aacttagttg atgaaggttg aaggagaggc
     3241 agcttcaggt gatggaaaga aaagtctctg agaggcagga cacctcagcc tcagctaccc
     3301 cgtgagcagt gatttaacct ctctaagcct cagtttccca cttggaatat gtgccaaggg
     3361 aggttcgagt tttgagctct tcccagctgt aaactctgca ttggcagaga caccgtggag
     3421 acacgcgaat caaatggtgg gagggcagga gatagcacgc ttctctgctt agtcctcctt
     3481 ccatcaccac tggaaaatga gcgtgaacac tgcccttgac cctgcagtca taagtcatgc
     3541 aggtggtggc ggggtggggg tgtagggtga gcctacccgc tgctctcttc tttagcttca
     3601 gggccttttc atttcccggc agcaacgagg tgcactgagc acttgtcggg gctgtgtttg
     3661 gagcccatca acagtgctac cagctttagt tccatcaacc ccaggctttt gtaacaactg
     3721 gttgcatgaa accctccctt gtagtttgtg tacagaagac tgcaatgaat tgaagtcatg
     3781 agacatacag ccaggatcct gaaagccacc aacatatgtc acctgcctgg gaggcttgct
     3841 tcgatggtca tcttgttctg cctgctaaga ccaggagtca cagctgttga catcatggtg
     3901 aataaaaaca ttttctgcca caggta
//
LOCUS       NM_001054               1031 bp    mRNA    linear   PRI 05-JUL-2023
DEFINITION  Homo sapiens sulfotransferase family 1A member 2 (SULT1A2),
            transcript variant 1, mRNA.
ACCESSION   NM_001054
VERSION     NM_001054.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1031)
  AUTHORS   Lv HY, Shi G, Li C, Ye YF, Chen YH, Chen LH, Tung TH and Zhang M.
  TITLE     Association of SULT1A2 rs1059491 with obesity and dyslipidaemia in
            southern Chinese adults
  JOURNAL   Sci Rep 13 (1), 7256 (2023)
   PUBMED   37142702
  REMARK    GeneRIF: Association of SULT1A2 rs1059491 with obesity and
            dyslipidaemia in southern Chinese adults. Erratum:[Sci Rep. 2023 May
            31;13(1):8829. PMID: 37258596] Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1031)
  AUTHORS   Monien BH, Sachse B, Meinl W, Abraham K, Lampen A and Glatt H.
  TITLE     Hemoglobin adducts of furfuryl alcohol in genetically modified mouse
            models: Role of endogenous sulfotransferases 1a1 and 1d1 and
            transgenic human sulfotransferases 1A1/1A2
  JOURNAL   Toxicol Lett 295, 173-178 (2018)
   PUBMED   29908303
  REMARK    GeneRIF: Suggest SULT1A1/1A2 play a central role in furfuryl alcohol
            bioactivation and the formation of hemoglobin adducts.
REFERENCE   3  (bases 1 to 1031)
  AUTHORS   Shah IA, Bhat GA, Mehta P, Lone MM and Dar NA.
  TITLE     Genotypes of CYP1A1, SULT1A1 and SULT1A2 and risk of squamous cell
            carcinoma of esophagus: outcome of a case-control study from
            Kashmir, India
  JOURNAL   Dis Esophagus 29 (8), 937-943 (2016)
   PUBMED   26455829
  REMARK    GeneRIF: The polymorphism of SULT1A2*2 is not associated with
            esophageal squamous cell carcinoma risk.
REFERENCE   4  (bases 1 to 1031)
  AUTHORS   Hui Y, Luo L, Zhang L, Kurogi K, Zhou C, Sakakibara Y, Suiko M and
            Liu MC.
  TITLE     Sulfation of afimoxifene, endoxifen, raloxifene, and fulvestrant by
            the human cytosolic sulfotransferases (SULTs): A systematic analysis
  JOURNAL   J Pharmacol Sci 128 (3), 144-149 (2015)
   PUBMED   26169578
  REMARK    GeneRIF: It metabolizes breast cancer drugs like afimoxifene and
            endoxifen by sulfation.
REFERENCE   5  (bases 1 to 1031)
  AUTHORS   Rietveld CA, Esko T, Davies G, Pers TH, Turley P, Benyamin B,
            Chabris CF, Emilsson V, Johnson AD, Lee JJ, de Leeuw C, Marioni RE,
            Medland SE, Miller MB, Rostapshova O, van der Lee SJ, Vinkhuyzen AA,
            Amin N, Conley D, Derringer J, van Duijn CM, Fehrmann R, Franke L,
            Glaeser EL, Hansell NK, Hayward C, Iacono WG, Ibrahim-Verbaas C,
            Jaddoe V, Karjalainen J, Laibson D, Lichtenstein P, Liewald DC,
            Magnusson PK, Martin NG, McGue M, McMahon G, Pedersen NL, Pinker S,
            Porteous DJ, Posthuma D, Rivadeneira F, Smith BH, Starr JM, Tiemeier
            H, Timpson NJ, Trzaskowski M, Uitterlinden AG, Verhulst FC, Ward ME,
            Wright MJ, Davey Smith G, Deary IJ, Johannesson M, Plomin R,
            Visscher PM, Benjamin DJ, Cesarini D and Koellinger PD.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. PMID:
            25572966]
REFERENCE   6  (bases 1 to 1031)
  AUTHORS   Her C, Raftogianis R and Weinshilboum RM.
  TITLE     Human phenol sulfotransferase STP2 gene: molecular cloning,
            structural characterization, and chromosomal localization
  JOURNAL   Genomics 33 (3), 409-420 (1996)
   PUBMED   8661000
REFERENCE   7  (bases 1 to 1031)
  AUTHORS   Zhu X, Veronese ME, Iocco P and McManus ME.
  TITLE     cDNA cloning and expression of a new form of human aryl
            sulfotransferase
  JOURNAL   Int J Biochem Cell Biol 28 (5), 565-571 (1996)
   PUBMED   8697101
REFERENCE   8  (bases 1 to 1031)
  AUTHORS   Ozawa S, Nagata K, Shimada M, Ueda M, Tsuzuki T, Yamazoe Y and Kato
            R.
  TITLE     Primary structures and properties of two related forms of aryl
            sulfotransferases in human liver
  JOURNAL   Pharmacogenetics 5 Spec No, S135-S140 (1995)
   PUBMED   7581483
REFERENCE   9  (bases 1 to 1031)
  AUTHORS   Yamazoe Y, Ozawa S, Nagata K, Gong DW and Kato R.
  TITLE     Characterization and expression of hepatic sulfotransferase involved
            in the metabolism of N-substituted aryl compounds
  JOURNAL   Environ Health Perspect 102 Suppl 6 (Suppl 6), 99-103 (1994)
   PUBMED   7889867
REFERENCE   10  (bases 1 to 1031)
  AUTHORS   Yamazoe Y, Nagata K, Ozawa S and Kato R.
  TITLE     Structural similarity and diversity of sulfotransferases
  JOURNAL   Chem Biol Interact 92 (1-3), 107-117 (1994)
   PUBMED   8033246
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: U28170.1, U28169.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000335715.9/ ENSP00000338742.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020765.8.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001054.3.
            Summary: Sulfotransferase enzymes catalyze the sulfate conjugation
            of many hormones, neurotransmitters, drugs, and xenobiotic
            compounds. These cytosolic enzymes are different in their tissue
            distributions and substrate specificities. The gene structure
            (number and length of exons) is similar among family members. This
            gene encodes one of two phenol sulfotransferases with thermostable
            enzyme activity. Two alternatively spliced variants that encode the
            same protein have been described. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1031
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..1031
                     /gene="SULT1A2"
                     /gene_synonym="HAST4; P-PST; P-PST 2; ST1A2; STP2; TSPST2"
                     /note="sulfotransferase family 1A member 2"
                     /db_xref="GeneID:6799"
                     /db_xref="HGNC:HGNC:11454"
                     /db_xref="MIM:601292"
     CDS             59..946
                     /gene="SULT1A2"
                     /gene_synonym="HAST4; P-PST; P-PST 2; ST1A2; STP2; TSPST2"
                     /EC_number="2.8.2.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     phenolic-metabolizing (P) form of PST; arylamine
                     sulfotransferase; phenol-preferring phenol
                     sulfotransferase2; phenol-sulfating phenol sulfotransferase
                     2; thermostable phenol sulfotransferase; sulfotransferase
                     1A2; aryl sulfotransferase 2; sulfotransferase family,
                     cytosolic, 1A, phenol-preferring, member 2"
                     /codon_start=1
                     /product="sulfotransferase 1A2 isoform 1"
                     /protein_id="NP_001045.2"
                     /db_xref="CCDS:CCDS10636.1"
                     /db_xref="GeneID:6799"
                     /db_xref="HGNC:HGNC:11454"
                     /db_xref="MIM:601292"
                     /translation="MELIQDISRPPLEYVKGVPLIKYFAEALGPLQSFQARPDDLLIST
                     YPKSGTTWVSQILDMIYQGGDLEKCHRAPIFMRVPFLEFKVPGIPSGMETLKNTPAPRL
                     LKTHLPLALLPQTLLDQKVKVVYVARNAKDVAVSYYHFYHMAKVYPHPGTWESFLEKFM
                     AGEVSYGSWYQHVQEWWELSRTHPVLYLFYEDMKENPKREIQKILEFVGRSLPEETVDL
                     MVEHTSFKEMKKNPMTNYTTVRREFMDHSISPFMRKGMAGDWKTTFTVAQNERFDADYA
                     KKMAGCSLSFRSEL"
     regulatory      1009..1014
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SULT1A2"
                     /gene_synonym="HAST4; P-PST; P-PST 2; ST1A2; STP2; TSPST2"
                     /note="hexamer: AATAAA"
     polyA_site      1031
                     /gene="SULT1A2"
                     /gene_synonym="HAST4; P-PST; P-PST 2; ST1A2; STP2; TSPST2"
                     /note="major polyA site"
ORIGIN
        1 acactcagcc actgcgggcg aggagggcac aaggccaggt tcccaagagc tcaggaacat
       61 ggagctgatc caggacatct ctcgcccgcc actggagtac gtgaaggggg tcccgctcat
      121 caagtacttt gcagaggcac tggggcccct gcagagcttc caggcccggc ctgatgacct
      181 gctcatcagc acctacccca agtccggcac cacctgggtg agccagattc tggacatgat
      241 ctaccagggc ggtgacctgg aaaagtgtca ccgagctccc atcttcatgc gggtgccctt
      301 ccttgagttc aaagtcccag ggattccctc agggatggag actctgaaaa acacaccagc
      361 cccacgactc ctgaagacac acctgcccct ggctctgctc ccccagactc tgttggatca
      421 gaaggtcaag gtggtctatg ttgcccgcaa cgcaaaggat gtggcggttt cctactacca
      481 cttctaccac atggccaaag tgtaccctca ccctgggacc tgggaaagct tcctggagaa
      541 gttcatggct ggagaagtgt cctatgggtc ctggtaccag cacgtgcaag agtggtggga
      601 gctgagccgc acccaccctg ttctctacct cttctatgaa gacatgaagg agaaccccaa
      661 aagggagatt caaaagatcc tggagtttgt ggggcgctcc ctgccagagg agactgtgga
      721 cctcatggtt gagcacacgt cgttcaagga gatgaagaag aaccctatga ccaactacac
      781 caccgtccgc cgggagttca tggaccacag catctccccc ttcatgagga aaggcatggc
      841 tggggactgg aagaccacct tcaccgtggc gcagaatgag cgcttcgatg cggactatgc
      901 gaagaagatg gcaggctgca gcctcagctt ccgctctgag ctgtgagagg ggttcctgga
      961 gtcactgcag agggagtgtg cgaatcaagc ctgaccaaga ggctccagaa taaagtatga
     1021 tttgtgttca a
//
LOCUS       NM_001055               1569 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens sulfotransferase family 1A member 1 (SULT1A1),
            transcript variant 1, mRNA.
ACCESSION   NM_001055
VERSION     NM_001055.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1569)
  AUTHORS   Dudas B, Toth D, Perahia D, Nicot AB, Balog E and Miteva MA.
  TITLE     Insights into the substrate binding mechanism of SULT1A1 through
            molecular dynamics with excited normal modes simulations
  JOURNAL   Sci Rep 11 (1), 13129 (2021)
   PUBMED   34162941
  REMARK    GeneRIF: Insights into the substrate binding mechanism of SULT1A1
            through molecular dynamics with excited normal modes simulations.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1569)
  AUTHORS   Ma G, Geng L, Lu Y, Wei X and Yu H.
  TITLE     Investigating the molecular mechanism of hydroxylated bromdiphenyl
            ethers to inhibit the thyroid hormone sulfotransferase SULT1A1
  JOURNAL   Chemosphere 263, 128353 (2021)
   PUBMED   33297275
  REMARK    GeneRIF: Investigating the molecular mechanism of hydroxylated
            bromdiphenyl ethers to inhibit the thyroid hormone sulfotransferase
            SULT1A1.
REFERENCE   3  (bases 1 to 1569)
  AUTHORS   Beckmann JD, Chodavarapu S and Doyle B.
  TITLE     Evaluation of a conserved tryptophanyl residue in donor substrate
            binding and catalysis by a phenol sulfotransferase (SULT1A1)
  JOURNAL   Arch Biochem Biophys 695, 108621 (2020)
   PUBMED   33049293
  REMARK    GeneRIF: Evaluation of a conserved tryptophanyl residue in donor
            substrate binding and catalysis by a phenol sulfotransferase
            (SULT1A1).
REFERENCE   4  (bases 1 to 1569)
  AUTHORS   Idris M, Mitchell DJ, Gordon R, Sidharthan NP, Butcher NJ and
            Minchin RF.
  TITLE     Interaction of the Brain-Selective Sulfotransferase SULT4A1 with
            Other Cytosolic Sulfotransferases: Effects on Protein Expression and
            Function
  JOURNAL   Drug Metab Dispos 48 (5), 337-344 (2020)
   PUBMED   32152050
  REMARK    GeneRIF: Interaction of the Brain-Selective Sulfotransferase SULT4A1
            with Other Cytosolic Sulfotransferases: Effects on Protein
            Expression and Function.
REFERENCE   5  (bases 1 to 1569)
  AUTHORS   Dash R, Ali MC, Dash N, Azad MAK, Hosen SMZ, Hannan MA and Moon IS.
  TITLE     Structural and Dynamic Characterizations Highlight the Deleterious
            Role of SULT1A1 R213H Polymorphism in Substrate Binding
  JOURNAL   Int J Mol Sci 20 (24), 6256 (2019)
   PUBMED   31835852
  REMARK    GeneRIF: These findings highlight the key insights of structural
            consequences caused by R213H mutation, which would enrich the
            understanding regarding the role of SULT1A1 mutation in cancer
            development. Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1569)
  AUTHORS   Jones AL, Hagen M, Coughtrie MW, Roberts RC and Glatt H.
  TITLE     Human platelet phenolsulfotransferases: cDNA cloning, stable
            expression in V79 cells and identification of a novel allelic
            variant of the phenol-sulfating form
  JOURNAL   Biochem Biophys Res Commun 208 (2), 855-862 (1995)
   PUBMED   7695643
REFERENCE   7  (bases 1 to 1569)
  AUTHORS   Hwang SR, Kohn AB and Hook VY.
  TITLE     Molecular cloning of an isoform of phenol sulfotransferase from
            human brain hippocampus
  JOURNAL   Biochem Biophys Res Commun 207 (2), 701-707 (1995)
   PUBMED   7864863
REFERENCE   8  (bases 1 to 1569)
  AUTHORS   Ozawa S, Nagata K, Shimada M, Ueda M, Tsuzuki T, Yamazoe Y and Kato
            R.
  TITLE     Primary structures and properties of two related forms of aryl
            sulfotransferases in human liver
  JOURNAL   Pharmacogenetics 5 Spec No, S135-S140 (1995)
   PUBMED   7581483
REFERENCE   9  (bases 1 to 1569)
  AUTHORS   Falany CN, Zhuang W and Falany JL.
  TITLE     Characterization of expressed human phenol-sulfating phenol
            sulfotransferase: effect of mutating cys70 on activity and
            thermostability
  JOURNAL   Chem Biol Interact 92 (1-3), 57-66 (1994)
   PUBMED   8033270
REFERENCE   10  (bases 1 to 1569)
  AUTHORS   Yamazoe Y, Nagata K, Ozawa S and Kato R.
  TITLE     Structural similarity and diversity of sulfotransferases
  JOURNAL   Chem Biol Interact 92 (1-3), 107-117 (1994)
   PUBMED   8033246
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.3445629.1, BC000923.2
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2153946,
            SAMEA2158569 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000314752.12/ ENSP00000321988.7
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020765.8.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 21, 2021 this sequence version replaced NM_001055.3.
            Summary: Sulfotransferase enzymes catalyze the sulfate conjugation
            of many hormones, neurotransmitters, drugs, and xenobiotic
            compounds. These cytosolic enzymes are different in their tissue
            distributions and substrate specificities. The gene structure
            (number and length of exons) is similar among family members. This
            gene encodes one of two phenol sulfotransferases with thermostable
            enzyme activity.  Multiple alternatively spliced variants that
            encode two isoforms have been identified for this gene. [provided
            by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1569
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..1569
                     /gene="SULT1A1"
                     /gene_synonym="HAST1/HAST2; P-PST; P-PST 1; PST; ST1A1;
                     ST1A3; STP; STP1; ts-PST; TSPST1"
                     /note="sulfotransferase family 1A member 1"
                     /db_xref="GeneID:6817"
                     /db_xref="HGNC:HGNC:11453"
                     /db_xref="MIM:171150"
     misc_feature    11..13
                     /gene="SULT1A1"
                     /gene_synonym="HAST1/HAST2; P-PST; P-PST 1; PST; ST1A1;
                     ST1A3; STP; STP1; ts-PST; TSPST1"
                     /note="upstream in-frame stop codon"
     CDS             119..1006
                     /gene="SULT1A1"
                     /gene_synonym="HAST1/HAST2; P-PST; P-PST 1; PST; ST1A1;
                     ST1A3; STP; STP1; ts-PST; TSPST1"
                     /EC_number="2.8.2.1"
                     /note="isoform a is encoded by transcript variant 1;
                     thermostable phenol sulfotransferase1; sulfotransferase
                     1A1; aryl sulfotransferase 1; phenol-sulfating phenol
                     sulfotransferase 1; sulfotransferase family, cytosolic, 1A,
                     phenol-preferring, member 1"
                     /codon_start=1
                     /product="sulfotransferase 1A1 isoform a"
                     /protein_id="NP_001046.2"
                     /db_xref="CCDS:CCDS32420.1"
                     /db_xref="GeneID:6817"
                     /db_xref="HGNC:HGNC:11453"
                     /db_xref="MIM:171150"
                     /translation="MELIQDTSRPPLEYVKGVPLIKYFAEALGPLQSFQARPDDLLIST
                     YPKSGTTWVSQILDMIYQGGDLEKCHRAPIFMRVPFLEFKAPGIPSGMETLKDTPAPRL
                     LKTHLPLALLPQTLLDQKVKVVYVARNAKDVAVSYYHFYHMAKVHPEPGTWDSFLEKFM
                     VGEVSYGSWYQHVQEWWELSRTHPVLYLFYEDMKENPKREIQKILEFVGRSLPEETVDF
                     VVQHTSFKEMKKNPMTNYTTVPQEFMDHSISPFMRKGMAGDWKTTFTVAQNERFDADYA
                     EKMAGCSLSFRSEL"
     misc_feature    530..532
                     /gene="SULT1A1"
                     /gene_synonym="HAST1/HAST2; P-PST; P-PST 1; PST; ST1A1;
                     ST1A3; STP; STP1; ts-PST; TSPST1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P17988; propagated from
                     UniProtKB/Swiss-Prot (P50225.3); phosphorylation site"
     regulatory      1205..1210
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SULT1A1"
                     /gene_synonym="HAST1/HAST2; P-PST; P-PST 1; PST; ST1A1;
                     ST1A3; STP; STP1; ts-PST; TSPST1"
                     /note="hexamer: AATAAA"
     regulatory      1215..1220
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SULT1A1"
                     /gene_synonym="HAST1/HAST2; P-PST; P-PST 1; PST; ST1A1;
                     ST1A3; STP; STP1; ts-PST; TSPST1"
                     /note="hexamer: AATAAA"
     polyA_site      1225
                     /gene="SULT1A1"
                     /gene_synonym="HAST1/HAST2; P-PST; P-PST 1; PST; ST1A1;
                     ST1A3; STP; STP1; ts-PST; TSPST1"
                     /note="major polyA site"
     regulatory      1239..1244
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SULT1A1"
                     /gene_synonym="HAST1/HAST2; P-PST; P-PST 1; PST; ST1A1;
                     ST1A3; STP; STP1; ts-PST; TSPST1"
                     /note="hexamer: AATAAA"
     polyA_site      1240
                     /gene="SULT1A1"
                     /gene_synonym="HAST1/HAST2; P-PST; P-PST 1; PST; ST1A1;
                     ST1A3; STP; STP1; ts-PST; TSPST1"
     polyA_site      1264
                     /gene="SULT1A1"
                     /gene_synonym="HAST1/HAST2; P-PST; P-PST 1; PST; ST1A1;
                     ST1A3; STP; STP1; ts-PST; TSPST1"
     regulatory      1548..1553
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SULT1A1"
                     /gene_synonym="HAST1/HAST2; P-PST; P-PST 1; PST; ST1A1;
                     ST1A3; STP; STP1; ts-PST; TSPST1"
                     /note="hexamer: AATACA"
     polyA_site      1569
                     /gene="SULT1A1"
                     /gene_synonym="HAST1/HAST2; P-PST; P-PST 1; PST; ST1A1;
                     ST1A3; STP; STP1; ts-PST; TSPST1"
ORIGIN
        1 acagtggacc taggaaaccc tcagctcaga gaacaaccct gcattcccca cacaacaccc
       61 acaatcagcc actgcgggcg aggagggcac gaggccaggt tcccaagagc tcaggaacat
      121 ggagctgatc caggacacct cccgcccgcc actggagtac gtgaaggggg tcccgctcat
      181 caagtacttt gcagaggcac tggggcccct gcagagcttc caggcccggc ctgatgacct
      241 gctcatcagc acctacccca agtccggcac tacctgggta agccagattc tggacatgat
      301 ctaccagggt ggtgacctgg agaagtgtca ccgagctccc atcttcatgc gggtgccctt
      361 ccttgagttc aaagccccag ggattccctc agggatggag actctgaaag acacaccggc
      421 cccacgactc ctgaagacac acctgcccct ggctctgctc ccccagactc tgttggatca
      481 gaaggtcaag gtggtctatg ttgcccgcaa cgcaaaggat gtggcagttt cctactacca
      541 cttctaccac atggccaagg tgcaccctga gcctgggacc tgggacagct tcctggagaa
      601 gttcatggtc ggagaagtgt cctacggatc ctggtaccag cacgtgcagg agtggtggga
      661 gctgagccgc acccaccctg ttctctacct cttctatgaa gacatgaagg agaacccgaa
      721 aagggagatt caaaagatcc tggagtttgt ggggcgctcc ctgccagagg agaccgtgga
      781 cttcgtggtt cagcacacgt cgttcaagga gatgaagaag aaccctatga ccaactacac
      841 caccgtcccc caggagttca tggaccacag catctccccc ttcatgagga aaggcatggc
      901 tggggactgg aagaccacct tcaccgtggc gcagaatgag cgcttcgatg cggactatgc
      961 ggagaagatg gcaggctgca gcctcagctt ccgctctgag ctgtgagagg ggctcctgga
     1021 gtcactgcag agggagtgtg cgaatcaaac ctgaccaagc ggctcaagaa taaaatatga
     1081 attgagggcc cgggacggta ggtcatgtct gtaatcccag caatttggag gctgaggtgg
     1141 gaggatcatt tgagcccagg agttcgagac caacctgggc aacatagtga gattctgtta
     1201 aaaaaataaa ataaaataaa accaattttt aaaaagagaa taaaatatga ttgtgggcca
     1261 ggcagagtgg ctcatgcctg taatcccagc aatttgagaa gttgaggcta gaggatcact
     1321 ggaggacagg agtttgggac cagcctgttc aacattacaa gacatcatcc ctacaaaaat
     1381 ttgagaaaat tatctgtacg tgatggtggg cacctgtagt cccagctact tgacaagtga
     1441 aggcaggagg atcgcctgag ccagggaggt tatggctgca gtgggctgac tgggctaatc
     1501 cactcaagcc tgagggacag agcaaatctt gcttgagaaa taaataaaat acaatttact
     1561 taacataaa
//
LOCUS       NM_001056               2539 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens sulfotransferase family 1C member 2 (SULT1C2),
            transcript variant 1, mRNA.
ACCESSION   NM_001056
VERSION     NM_001056.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2539)
  AUTHORS   Johnson C, Mullen DJ, Selamat SA, Campan M, Offringa IA and
            Marconett CN.
  TITLE     The Sulfotransferase SULT1C2 Is Epigenetically Activated and
            Transcriptionally Induced by Tobacco Exposure and Is Associated with
            Patient Outcome in Lung Adenocarcinoma
  JOURNAL   Int J Environ Res Public Health 19 (1), 416 (2021)
   PUBMED   35010676
  REMARK    GeneRIF: The Sulfotransferase SULT1C2 Is Epigenetically Activated
            and Transcriptionally Induced by Tobacco Exposure and Is Associated
            with Patient Outcome in Lung Adenocarcinoma. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2539)
  AUTHORS   Barrett KG, Fang H, Kocarek TA and Runge-Morris M.
  TITLE     Transcriptional Regulation of Cytosolic Sulfotransferase 1C2 by
            Vitamin D Receptor in LS180 Human Colorectal Adenocarcinoma Cells
  JOURNAL   Drug Metab Dispos 44 (8), 1431-1434 (2016)
   PUBMED   27130351
  REMARK    GeneRIF: Vitamin D receptor can interact directly with the SULT1C2
            VDRE sequence to transcriptionally regulation SULT1C2 expression in
            colorectal tumor cells.
REFERENCE   3  (bases 1 to 2539)
  AUTHORS   Rondini EA, Fang H, Runge-Morris M and Kocarek TA.
  TITLE     Regulation of human cytosolic sulfotransferases 1C2 and 1C3 by
            nuclear signaling pathways in LS180 colorectal adenocarcinoma cells
  JOURNAL   Drug Metab Dispos 42 (3), 361-368 (2014)
   PUBMED   24335393
  REMARK    GeneRIF: Our findings are the first to characterize the regulation
            of human SULT1C2 and SULT1C3 expression by several transcription
            factor activators.
REFERENCE   4  (bases 1 to 2539)
  AUTHORS   Runge-Morris M and Kocarek TA.
  TITLE     Expression of the sulfotransferase 1C family: implications for
            xenobiotic toxicity
  JOURNAL   Drug Metab Rev 45 (4), 450-459 (2013)
   PUBMED   24028175
  REMARK    Review article
REFERENCE   5  (bases 1 to 2539)
  AUTHORS   Lee OH, Kim H, He Q, Baek HJ, Yang D, Chen LY, Liang J, Chae HK,
            Safari A, Liu D and Songyang Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   6  (bases 1 to 2539)
  AUTHORS   Sakakibara Y, Yanagisawa K, Katafuchi J, Ringer DP, Takami Y,
            Nakayama T, Suiko M and Liu MC.
  TITLE     Molecular cloning, expression, and characterization of novel human
            SULT1C sulfotransferases that catalyze the sulfonation of
            N-hydroxy-2-acetylaminofluorene
  JOURNAL   J Biol Chem 273 (51), 33929-33935 (1998)
   PUBMED   9852044
REFERENCE   7  (bases 1 to 2539)
  AUTHORS   Yoshinari K, Nagata K, Shimada M and Yamazoe Y.
  TITLE     Molecular characterization of ST1C1-related human sulfotransferase
  JOURNAL   Carcinogenesis 19 (5), 951-953 (1998)
   PUBMED   9635888
REFERENCE   8  (bases 1 to 2539)
  AUTHORS   Her C, Kaur GP, Athwal RS and Weinshilboum RM.
  TITLE     Human sulfotransferase SULT1C1: cDNA cloning, tissue-specific
            expression, and chromosomal localization
  JOURNAL   Genomics 41 (3), 467-470 (1997)
   PUBMED   9169148
REFERENCE   9  (bases 1 to 2539)
  AUTHORS   Weinshilboum RM, Otterness DM, Aksoy IA, Wood TC, Her C and
            Raftogianis RB.
  TITLE     Sulfation and sulfotransferases 1: Sulfotransferase molecular
            biology: cDNAs and genes
  JOURNAL   FASEB J 11 (1), 3-14 (1997)
   PUBMED   9034160
  REMARK    Review article
REFERENCE   10  (bases 1 to 2539)
  AUTHORS   Kiehlbauch CC, Lam YF and Ringer DP.
  TITLE     Homodimeric and heterodimeric aryl sulfotransferases catalyze the
            sulfuric acid esterification of N-hydroxy-2-acetylaminofluorene
  JOURNAL   J Biol Chem 270 (32), 18941-18947 (1995)
   PUBMED   7642552
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AB008164.1, AF186251.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000251481.11/ ENSP00000251481.6
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF186252.1, AC019100.4 and
            AA856596.1.
            On Nov 22, 2018 this sequence version replaced NM_001056.3.
            Summary: Sulfotransferase enzymes catalyze the sulfate conjugation
            of many hormones, neurotransmitters, drugs, and xenobiotic
            compounds. These cytosolic enzymes are different in their tissue
            distributions and substrate specificities. The gene structure
            (number and length of exons) is similar among family members. This
            gene encodes a protein that belongs to the SULT1 subfamily,
            responsible for transferring a sulfo moiety from PAPS to
            phenol-containing compounds. Two alternatively spliced transcript
            variants encoding different isoforms have been described for this
            gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) is the predominant transcript
            and it encodes isoform a.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments and orthologous data.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2539
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q12.3"
     gene            1..2539
                     /gene="SULT1C2"
                     /gene_synonym="humSULTC2; ST1C1; ST1C2; SULT1C1"
                     /note="sulfotransferase family 1C member 2"
                     /db_xref="GeneID:6819"
                     /db_xref="HGNC:HGNC:11456"
                     /db_xref="MIM:602385"
     misc_feature    29
                     /gene="SULT1C2"
                     /gene_synonym="humSULTC2; ST1C1; ST1C2; SULT1C1"
                     /note="transcription initiation site in kidney tissue"
     misc_feature    189..191
                     /gene="SULT1C2"
                     /gene_synonym="humSULTC2; ST1C1; ST1C2; SULT1C1"
                     /note="upstream in-frame stop codon"
     CDS             198..1088
                     /gene="SULT1C2"
                     /gene_synonym="humSULTC2; ST1C1; ST1C2; SULT1C1"
                     /EC_number="2.8.2.1"
                     /note="isoform a is encoded by transcript variant 1;
                     sulfotransferase family, cytosolic, 1C, member 1;
                     sulfotransferase 1C2; sulfotransferase 1C1; SULT1C#1;
                     sulfotransferase family, cytosolic, 1C, member 2"
                     /codon_start=1
                     /product="sulfotransferase 1C2 isoform a"
                     /protein_id="NP_001047.1"
                     /db_xref="CCDS:CCDS2075.1"
                     /db_xref="GeneID:6819"
                     /db_xref="HGNC:HGNC:11456"
                     /db_xref="MIM:602385"
                     /translation="MALTSDLGKQIKLKEVEGTLLQPATVDNWSQIQSFEAKPDDLLIC
                     TYPKAGTTWIQEIVDMIEQNGDVEKCQRAIIQHRHPFIEWARPPQPSGVEKAKAMPSPR
                     ILKTHLSTQLLPPSFWENNCKFLYVARNAKDCMVSYYHFQRMNHMLPDPGTWEEYFETF
                     INGKVVWGSWFDHVKGWWEMKDRHQILFLFYEDIKRDPKHEIRKVMQFMGKKVDETVLD
                     KIVQETSFEKMKENPMTNRSTVSKSILDQSISSFMRKGTVGDWKNHFTVAQNERFDEIY
                     RRKMEGTSINFCMEL"
     misc_feature    612..614
                     /gene="SULT1C2"
                     /gene_synonym="humSULTC2; ST1C1; ST1C2; SULT1C1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D939; propagated from
                     UniProtKB/Swiss-Prot (O00338.1); phosphorylation site"
     misc_feature    957..959
                     /gene="SULT1C2"
                     /gene_synonym="humSULTC2; ST1C1; ST1C2; SULT1C1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D939; propagated from
                     UniProtKB/Swiss-Prot (O00338.1); phosphorylation site"
     regulatory      1318..1323
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SULT1C2"
                     /gene_synonym="humSULTC2; ST1C1; ST1C2; SULT1C1"
                     /note="hexamer: AATAAA"
     polyA_site      1337
                     /gene="SULT1C2"
                     /gene_synonym="humSULTC2; ST1C1; ST1C2; SULT1C1"
                     /note="major polyA site"
     regulatory      2517..2522
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SULT1C2"
                     /gene_synonym="humSULTC2; ST1C1; ST1C2; SULT1C1"
                     /note="hexamer: AATAAA"
     polyA_site      2539
                     /gene="SULT1C2"
                     /gene_synonym="humSULTC2; ST1C1; ST1C2; SULT1C1"
                     /note="major polyA site"
ORIGIN
        1 acactgaagc tgagagcctc ccaaagtgct ggctacctgc tgagcgcccc cgtaactctg
       61 acacagtagt aatttgagcc tctgcaattg ccgtctgctt cctgtgaaag tcctttccgt
      121 gcccactgac ccttgagtgg gcctttgagc tgctgacttt cagctggaac ttgaagggac
      181 cccaaccctg agacactatg gccctgacct cagacctggg gaaacagata aaactgaaag
      241 aggtggaggg gaccctcctg cagcctgcaa ctgtggacaa ctggagccag atccagagct
      301 tcgaggccaa accagatgat ctcctcatct gcacctaccc taaagcaggg acaacgtgga
      361 ttcaggaaat tgtggatatg attgaacaga atggggacgt ggagaagtgc cagcgagcca
      421 tcatccaaca ccgccatcct ttcattgagt gggctcggcc accccaacct tctggtgtgg
      481 aaaaagccaa agcaatgccc tctccacgga tactaaagac tcacctttcc actcagctgc
      541 tgccaccgtc tttctgggaa aacaactgca agttccttta tgtagctcga aatgccaaag
      601 actgtatggt ttcctactac catttccaaa ggatgaacca catgcttcct gaccctggta
      661 cctgggaaga gtattttgaa accttcatca atggaaaagt ggtttggggt tcctggtttg
      721 accacgtgaa aggatggtgg gagatgaaag acagacacca gattctcttc ctcttctatg
      781 aggacataaa gagggaccca aagcatgaaa ttcggaaggt gatgcagttc atgggaaaga
      841 aggtggatga aacagtgcta gataaaattg tccaggagac gtcatttgag aaaatgaaag
      901 aaaatcccat gacaaatcgt tctacagttt ccaaatctat cttggaccag tcaatttcct
      961 ccttcatgag aaaaggaact gtgggggatt ggaaaaacca cttcactgtt gcccagaatg
     1021 agaggtttga tgaaatctat agaagaaaga tggaaggaac ctccataaac ttctgcatgg
     1081 aactctgagc aagatgtaaa taaaattaaa aggtggatgg caagagtgca aatactatct
     1141 tcaatccttc agtcccagcc agaagaatct ctgaaagcat attgtgaatg tatacaatgt
     1201 agtacaaaca atctctgtga tgattaacag tatgtcacca cttcattttt taaaaaggat
     1261 cacgtctaat gcccattttc ccaactattc tttccaaagt aagatataag gtagcttaat
     1321 aaactaagta aaacgtatga cttgagtaca aaaggattgt tttaatcccc attattctgg
     1381 aaagtgcatc ctagtctccc agtctataac atcataatac cttgagtata agtccaaata
     1441 ttaggttata tctatattaa aaacaaaatt tctgtcatct gtcctggcca ttcaggcaac
     1501 tccagcctgg gctcaatcct ggagttctgt ctggtcacta tcagaaggaa cactttgagg
     1561 gaaaccctgg tgcagccagc cctgaggaaa catggcctga gtgccctcac tggtgggtgg
     1621 gaataaaatg gaagtgcaca gaggagatgt cagaagacca aaacttggtg aatagtccca
     1681 gtgctaggtc atataggaaa cagaaagcat gacagtggcc ttttgggaac ccaagttacg
     1741 tcctggtgaa agcagaaagg aggagacagg atggctgtca acaacgtcag catgggcatg
     1801 gctcccaggc atggaggtaa ttgggtcttg gcttcaatgc cacccttttg ggaagcccta
     1861 aaccaagtga ggtgttcttt tcccttgctt cccatatttg tcccagttgc agccctgttg
     1921 ttatgtattt actcttcaat ttcttattta tacctctcac tcaattgtta attctttggg
     1981 ttcagtctca tgccatattt actcctagta cctaatgcag tgcctggcac acagcaagtg
     2041 cccttgagaa cttgtagagg gagtaaaaaa gtgcatggat aaatgactgc agcaaatcac
     2101 aaattttgaa ctttgaccct tttcttttag tcccaaatag tggcattcca tagctgaggg
     2161 tagtaggagc agttcaccct gggagcagac aataagagga agaatgaagc caactaaaat
     2221 tctgaatgct ttttgttgga tttcgtaggg tatttttttt aaaatagggt cttgctatgt
     2281 tgcccaggct ggtcttaact gactgctttt tattattacc atgcactggc aattccaaac
     2341 aatgtcagtg ttaaaatgct tctccctgaa aaagagaaaa aaaaaaggaa aaaaagaaaa
     2401 gaaaagtgaa aagaaaaact cttattggcc taagttctaa ataatagcta ggttaccact
     2461 gagttttaac tatatgtata tgagcttcaa ataagcacct ttttattatg taaataaata
     2521 aaagttatct gtatcccca
//
LOCUS       NM_001057               2715 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens tachykinin receptor 2 (TACR2), mRNA.
ACCESSION   NM_001057
VERSION     NM_001057.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2715)
  AUTHORS   Xiang H, Toyoshima Y, Shen W, Wang X, Okada N, Kii S, Sugiyama K,
            Nagato T, Kobayashi H, Ikeo K, Hashimoto S, Tanino M, Taketomi A and
            Kitamura H.
  TITLE     IFN-alpha/beta-mediated NK2R expression is related to the malignancy
            of colon cancer cells
  JOURNAL   Cancer Sci 113 (8), 2513-2525 (2022)
   PUBMED   35561088
  REMARK    GeneRIF: IFN-alpha/beta-mediated NK2R expression is related to the
            malignancy of colon cancer cells.
REFERENCE   2  (bases 1 to 2715)
  AUTHORS   Dai L, Perera DS, Burcher E and Liu L.
  TITLE     Hemokinin-1 and substance P stimulate production of inflammatory
            cytokines and chemokines in human colonic mucosa via both NK1 and
            NK2 tachykinin receptors
  JOURNAL   Neuropeptides 82, 102061 (2020)
   PUBMED   32600668
  REMARK    GeneRIF: Hemokinin-1 and substance P stimulate production of
            inflammatory cytokines and chemokines in human colonic mucosa via
            both NK1 and NK2 tachykinin receptors.
REFERENCE   3  (bases 1 to 2715)
  AUTHORS   Gonzalez-Santana A, Marrero-Hernandez S, Dorta I, Hernandez M, Pinto
            FM, Baez D, Bello AR, Candenas L and Almeida TA.
  TITLE     Altered expression of the tachykinins substance P/neurokinin
            A/hemokinin-1 and their preferred neurokinin 1/neurokinin 2
            receptors in uterine leiomyomata
  JOURNAL   Fertil Steril 106 (6), 1521-1529 (2016)
   PUBMED   27456549
  REMARK    GeneRIF: Expression substance P/neurokinin A/hemokinin-1 and their
            preferred neurokinin 1/neurokinin 2 receptors are dysregulated in
            uterine leiomyomata.
REFERENCE   4  (bases 1 to 2715)
  AUTHORS   Garcia-Ortega J, Pinto FM, Prados N, Bello AR, Almeida TA,
            Fernandez-Sanchez M and Candenas L.
  TITLE     Expression of Tachykinins and Tachykinin Receptors and Interaction
            with Kisspeptin in Human Granulosa and Cumulus Cells
  JOURNAL   Biol Reprod 94 (6), 124 (2016)
   PUBMED   27146034
  REMARK    GeneRIF: expressed in mural granulosa and cumulus cells
REFERENCE   5  (bases 1 to 2715)
  AUTHORS   Le DD, Schmit D, Heck S, Omlor AJ, Sester M, Herr C, Schick B,
            Daubeuf F, Fahndrich S, Bals R, Frossard N, Al Kadah B and Dinh QT.
  TITLE     Increase of Mast Cell-Nerve Association and Neuropeptide Receptor
            Expression on Mast Cells in Perennial Allergic Rhinitis
  JOURNAL   Neuroimmunomodulation 23 (5-6), 261-270 (2016)
   PUBMED   28030866
  REMARK    GeneRIF: This study revealed for the first time an increase of Mast
            Cells -nerve association and NK2R expression on Mast Cells during
            Allergic Rhinitis as well as nerve fibres containing receptors for
            mass cells.
REFERENCE   6  (bases 1 to 2715)
  AUTHORS   Maggi CA, Giuliani S, Patacchini R, Santicioli P, Theodorsson E,
            Barbanti G, Turini D and Giachetti A.
  TITLE     Tachykinin antagonists inhibit nerve-mediated contractions in the
            circular muscle of the human ileum. Involvement of neurokinin-2
            receptors
  JOURNAL   Gastroenterology 102 (1), 88-96 (1992)
   PUBMED   1370160
REFERENCE   7  (bases 1 to 2715)
  AUTHORS   Morten JE, Hopkins B, Powell SJ and Graham A.
  TITLE     Human NK-2 receptor gene maps to chromosome region 10q11-21
  JOURNAL   Hum Genet 88 (2), 200-203 (1991)
   PUBMED   1661704
REFERENCE   8  (bases 1 to 2715)
  AUTHORS   Graham A, Hopkins B, Powell SJ, Danks P and Briggs I.
  TITLE     Isolation and characterisation of the human lung NK-2 receptor gene
            using rapid amplification of cDNA ends
  JOURNAL   Biochem Biophys Res Commun 177 (1), 8-16 (1991)
   PUBMED   1710456
REFERENCE   9  (bases 1 to 2715)
  AUTHORS   Cyr C, South V, Saltzman A, Felder S, Ricca GA, Jaye M, Huebner K,
            Kagan J, Croce CM, Schlessinger J et al.
  TITLE     Cloning, expression of the human substance K receptor, and analysis
            of its role in mitogenesis
  JOURNAL   Ann N Y Acad Sci 632, 426-427 (1991)
   PUBMED   1659297
REFERENCE   10  (bases 1 to 2715)
  AUTHORS   Gerard NP and Gerard C.
  TITLE     Molecular cloning of the human neurokinin-2 receptor cDNA by
            polymerase chain reaction and isolation of the gene
  JOURNAL   Ann N Y Acad Sci 632, 389-390 (1991)
   PUBMED   1659296
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK291996.1, BC033742.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2142348
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000373306.5/ ENSP00000362403.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA929480.1, BC033742.1 and AC016821.9.
            On May 17, 2019 this sequence version replaced NM_001057.2.
            Summary: This gene belongs to a family of genes that function as
            receptors for tachykinins.  Receptor affinities are specified by
            variations in the 5'-end of the sequence.  The receptors belonging
            to this family are characterized by interactions with G proteins
            and 7 hydrophobic transmembrane regions.  This gene encodes the
            receptor for the tachykinin neuropeptide substance K, also referred
            to as neurokinin A. [provided by RefSeq, Jul 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2715
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..2715
                     /gene="TACR2"
                     /gene_synonym="NK2R; NKNAR; SKR; TAC2R"
                     /note="tachykinin receptor 2"
                     /db_xref="GeneID:6865"
                     /db_xref="HGNC:HGNC:11527"
                     /db_xref="MIM:162321"
     misc_feature    518..520
                     /gene="TACR2"
                     /gene_synonym="NK2R; NKNAR; SKR; TAC2R"
                     /note="upstream in-frame stop codon"
     CDS             596..1792
                     /gene="TACR2"
                     /gene_synonym="NK2R; NKNAR; SKR; TAC2R"
                     /note="neurokinin 2 receptor; neurokinin A receptor; NK-2
                     receptor; seven transmembrane helix receptor; NK-2R;
                     neurokinin B receptor"
                     /codon_start=1
                     /product="substance-K receptor"
                     /protein_id="NP_001048.2"
                     /db_xref="CCDS:CCDS7293.1"
                     /db_xref="GeneID:6865"
                     /db_xref="HGNC:HGNC:11527"
                     /db_xref="MIM:162321"
                     /translation="MGTCDIVTEANISSGPESNTTGITAFSMPSWQLALWATAYLALVL
                     VAVTGNAIVIWIILAHRRMRTVTNYFIVNLALADLCMAAFNAAFNFVYASHNIWYFGRA
                     FCYFQNLFPITAMFVSIYSMTAIAADRYMAIVHPFQPRLSAPSTKAVIAGIWLVALALA
                     SPQCFYSTVTMDQGATKCVVAWPEDSGGKTLLLYHLVVIALIYFLPLAVMFVAYSVIGL
                     TLWRRAVPGHQAHGANLRHLQAMKKFVKTMVLVVLTFAICWLPYHLYFILGSFQEDIYC
                     HKFIQQVYLALFWLAMSSTMYNPIIYCCLNHRFRSGFRLAFRCCPWVTPTKEDKLELTP
                     TTSLSTRVNRCHTKETLFMAGDTAPSEATSGEAGRPQDGSGLWFGYGLLAPTKTHVEI"
     misc_feature    626..628
                     /gene="TACR2"
                     /gene_synonym="NK2R; NKNAR; SKR; TAC2R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P21452.3); glycosylation site"
     misc_feature    650..652
                     /gene="TACR2"
                     /gene_synonym="NK2R; NKNAR; SKR; TAC2R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P21452.3); glycosylation site"
     misc_feature    692..763
                     /gene="TACR2"
                     /gene_synonym="NK2R; NKNAR; SKR; TAC2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P21452.3);
                     transmembrane region"
     misc_feature    803..865
                     /gene="TACR2"
                     /gene_synonym="NK2R; NKNAR; SKR; TAC2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P21452.3);
                     transmembrane region"
     misc_feature    917..982
                     /gene="TACR2"
                     /gene_synonym="NK2R; NKNAR; SKR; TAC2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P21452.3);
                     transmembrane region"
     misc_feature    1043..1105
                     /gene="TACR2"
                     /gene_synonym="NK2R; NKNAR; SKR; TAC2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P21452.3);
                     transmembrane region"
     misc_feature    1184..1249
                     /gene="TACR2"
                     /gene_synonym="NK2R; NKNAR; SKR; TAC2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P21452.3);
                     transmembrane region"
     misc_feature    1349..1411
                     /gene="TACR2"
                     /gene_synonym="NK2R; NKNAR; SKR; TAC2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P21452.3);
                     transmembrane region"
     misc_feature    1466..1525
                     /gene="TACR2"
                     /gene_synonym="NK2R; NKNAR; SKR; TAC2R"
                     /note="propagated from UniProtKB/Swiss-Prot (P21452.3);
                     transmembrane region"
     regulatory      1930..1935
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TACR2"
                     /gene_synonym="NK2R; NKNAR; SKR; TAC2R"
                     /note="hexamer: AACAAG"
     polyA_site      1947
                     /gene="TACR2"
                     /gene_synonym="NK2R; NKNAR; SKR; TAC2R"
                     /note="major polyA site"
     regulatory      2112..2117
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TACR2"
                     /gene_synonym="NK2R; NKNAR; SKR; TAC2R"
                     /note="hexamer: AATAAA"
     polyA_site      2137
                     /gene="TACR2"
                     /gene_synonym="NK2R; NKNAR; SKR; TAC2R"
                     /note="major polyA site"
ORIGIN
        1 agagaacggc agggaagctg cagcgagggc tggcagctgg cagagccctg agcacccagc
       61 acccagcccg gcttgcagcc caaagcctgg agagaggctg ctgcgccatt gacctgtgga
      121 ctccagagac tcccgctgtg cattcctctg atctggaagg tttcctgaat tacgtgacga
      181 gaaacctggg ttcgagtcct aacttgtcac caacttcctg agtgacctgg gctggtcccg
      241 tcccctcttg gaatctctgt cttccatctc ttcagcgaag gggttgattt ataagggtgt
      301 tttctgctct gacactgtga tttgaattct gtgtttccac atgatattcg agaagtctgg
      361 ccggaaggat ggaatctgaa atgacaatgg ttctggactg ggctttgtgc tcagcccagc
      421 tcatctttgc ctgagaccta ggagtggccc caggctctcc tgatgtgcca ccacgcttgg
      481 catctgctcc tctccctgcc cccatattcc catgctctga aggggagttc tctttcatag
      541 caaatccgag aggagccgag gagccaggtc ctttgttcca gacccagaag cagccatggg
      601 gacctgtgac attgtgactg aagccaatat ctcatctggc cctgagagca acaccacggg
      661 catcacagcc ttctccatgc ccagctggca actggcactg tgggccacag cctacctggc
      721 cctggtgctg gtggccgtga cgggtaatgc catcgtcatc tggatcatcc tggcccatcg
      781 gaggatgcgc acagtcacca actacttcat cgtcaatctg gcgctggctg acctctgcat
      841 ggctgccttc aatgccgcct tcaactttgt ctatgccagc cacaacatct ggtactttgg
      901 ccgtgccttc tgctacttcc agaacctctt ccccatcaca gccatgtttg tcagcatcta
      961 ctccatgacc gccattgctg ccgacaggta catggccatc gtccacccct tccagcctcg
     1021 gctttcagct cccagcacca aggcggttat tgctggcatc tggctggtgg ctctcgccct
     1081 ggcctcccct cagtgcttct actccaccgt caccatggac cagggtgcca ccaagtgcgt
     1141 ggtggcctgg cccgaagaca gcgggggcaa gacgctcctc ctgtaccacc tcgtggtgat
     1201 cgccctcatc tacttcctgc cgctcgcggt gatgtttgta gcctacagcg tcatcggcct
     1261 cacgctctgg aggcgcgcag tgcccggaca tcaggcgcac ggtgccaacc tgcgccacct
     1321 gcaggccatg aagaagtttg tgaagaccat ggtgctggtg gtgctgacgt ttgccatctg
     1381 ctggctgccc taccacctct acttcatcct gggcagcttc caggaggaca tctactgcca
     1441 caagttcatc cagcaagtct acctggcact cttctggttg gccatgagct ctaccatgta
     1501 caatcccatc atctactgct gtctcaacca caggtttcgc tctggattcc ggcttgcctt
     1561 ccgctgctgc ccatgggtca cacccaccaa ggaagataag ctcgagctga ctcccacgac
     1621 ctccctctcc acgagagtca acaggtgtca cactaaggag actttgttca tggctgggga
     1681 cacagccccc tccgaggcta ccagtgggga ggcggggcgt ccccaggatg gatcagggct
     1741 atggtttggg tatggtttgc ttgcccccac caaaactcat gttgaaattt gatcccaatg
     1801 tggcagtgtt gggaggtagg ggttagtggg aggtgtttgg gtattgggga tggatccctt
     1861 atgaatagat taatgccttc cagttgaagt gaatcatcac tcttgtggga atggactagt
     1921 tcccaaaata acaagttgtt agaaagagtg tggtgtcctc agtttccctg tcttgcttcc
     1981 tctctcacca tgtgatctct ttgcacacaa cacttccctt ccactttcca ccatgacaag
     2041 aagcagcctg aggccttcac cagatgcagc tgcccaatct tggatattcc agccaccaga
     2101 atcatgagcc aaataaacct cttttcttta taaattacct agtctcaggt attccatgaa
     2161 agcaacacaa atggactgag ataggtgcct attgaaccct gaagccttgt gcctggctgc
     2221 agaatgaggt gtagcaccct ttgagaagta gccaatcgag aagaccacat ctgaaagttc
     2281 agctcatgcc ccatccttca gtataccaat acaaagacaa catggggcca gaactccaga
     2341 aaggatgctg actttaagag gactcagcca cccatctcag agagcacttc agaggatcca
     2401 gtaagggtca gaaaagacag tgtaagctga tatttatcta atttaagaga tgcaagctca
     2461 aatgccttcc tggggcatac aagaatatgt ataaaagaaa aactgcaaat gtgatgataa
     2521 aaggcaactg acttccaccc tcagtttgag ctaataggga atggtggggg ccatggcaac
     2581 ctggagagga caggcattca aaggggacaa gaactactca gctctggaca aacgttgcca
     2641 catgataatg ggagcccact gttgctagat cttctaaatc tttcaagaga agctataaat
     2701 ccacatttgt atgtg
//
LOCUS       NM_001058               4779 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long,
            mRNA.
ACCESSION   NM_001058
VERSION     NM_001058.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4779)
  AUTHORS   Gao X and Bayraktutan U.
  TITLE     TNF-alpha evokes blood-brain barrier dysfunction through activation
            of Rho-kinase and neurokinin 1 receptor
  JOURNAL   Immunobiology 228 (5), 152706 (2023)
   PUBMED   37454559
  REMARK    GeneRIF: TNF-alpha evokes blood-brain barrier dysfunction through
            activation of Rho-kinase and neurokinin 1 receptor.
REFERENCE   2  (bases 1 to 4779)
  AUTHORS   Rosso P, Fico E, Colafrancesco S, Bellizzi MG, Priori R, Cerbelli B,
            Leopizzi M, Giordano C, Greco A, Tirassa P, Severini C and Fusconi
            M.
  TITLE     Involvement of Substance P (SP) and Its Related NK1 Receptor in
            Primary Sjogren's Syndrome (pSS) Pathogenesis
  JOURNAL   Cells 12 (10), 1347 (2023)
   PUBMED   37408182
  REMARK    GeneRIF: Involvement of Substance P (SP) and Its Related NK1
            Receptor in Primary Sjogren's Syndrome (pSS) Pathogenesis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4779)
  AUTHORS   Kokabi F, Ebrahimi S, Mirzavi F, Ghiasi Nooghabi N, Hashemi SF and
            Hashemy SI.
  TITLE     The neuropeptide substance P/neurokinin-1 receptor system and
            diabetes: From mechanism to therapy
  JOURNAL   Biofactors 49 (3), 534-559 (2023)
   PUBMED   36651605
  REMARK    GeneRIF: The neuropeptide substance P/neurokinin-1 receptor system
            and diabetes: From mechanism to therapy. Review article
REFERENCE   4  (bases 1 to 4779)
  AUTHORS   Guan L, Yuan S, Ma J, Liu H, Huang L and Zhang F.
  TITLE     Neurokinin-1 receptor is highly expressed in cervical cancer and its
            antagonist induces cervical cancer cell apoptosis
  JOURNAL   Eur J Histochem 67 (1), 3570 (2023)
   PUBMED   36629320
  REMARK    GeneRIF: Neurokinin-1 receptor is highly expressed in cervical
            cancer and its antagonist induces cervical cancer cell apoptosis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4779)
  AUTHORS   Han P, Chen L, Chen D, Yang R, Wang W, Liu J, He S and Zhang H.
  TITLE     Upregulated expression of substance P and NK1R in blood monocytes
            and B cells of patients with allergic rhinitis and asthma
  JOURNAL   Clin Exp Immunol 210 (1), 39-52 (2022)
   PUBMED   36001730
  REMARK    GeneRIF: Upregulated expression of substance P and NK1R in blood
            monocytes and B cells of patients with allergic rhinitis and asthma.
REFERENCE   6  (bases 1 to 4779)
  AUTHORS   Fong TM, Huang RR and Strader CD.
  TITLE     Localization of agonist and antagonist binding domains of the human
            neurokinin-1 receptor
  JOURNAL   J Biol Chem 267 (36), 25664-25667 (1992)
   PUBMED   1281469
REFERENCE   7  (bases 1 to 4779)
  AUTHORS   Fong TM, Yu H, Huang RR and Strader CD.
  TITLE     The extracellular domain of the neurokinin-1 receptor is required
            for high-affinity binding of peptides
  JOURNAL   Biochemistry 31 (47), 11806-11811 (1992)
   PUBMED   1280161
REFERENCE   8  (bases 1 to 4779)
  AUTHORS   Takahashi K, Tanaka A, Hara M and Nakanishi S.
  TITLE     The primary structure and gene organization of human substance P and
            neuromedin K receptors
  JOURNAL   Eur J Biochem 204 (3), 1025-1033 (1992)
   PUBMED   1312928
REFERENCE   9  (bases 1 to 4779)
  AUTHORS   Walsh DA, Mapp PI, Wharton J, Rutherford RA, Kidd BL, Revell PA,
            Blake DR and Polak JM.
  TITLE     Localisation and characterisation of substance P binding to human
            synovial tissue in rheumatoid arthritis
  JOURNAL   Ann Rheum Dis 51 (3), 313-317 (1992)
   PUBMED   1374227
REFERENCE   10  (bases 1 to 4779)
  AUTHORS   Fong TM, Anderson SA, Yu H, Huang RR and Strader CD.
  TITLE     Differential activation of intracellular effector by two isoforms of
            human neurokinin-1 receptor
  JOURNAL   Mol Pharmacol 41 (1), 24-30 (1992)
   PUBMED   1310144
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.36400.1, AK289765.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000305249.10/ ENSP00000303522.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007681.3, DB203452.1,
            M74290.1, AC007400.4 and AW206679.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001058.3.
            Summary: This gene belongs to a gene family of tachykinin
            receptors. These tachykinin receptors are characterized by
            interactions with G proteins and contain seven hydrophobic
            transmembrane regions. This gene encodes the receptor for the
            tachykinin substance P, also referred to as neurokinin 1. The
            encoded protein is also involved in the mediation of
            phosphatidylinositol metabolism of substance P. [provided by
            RefSeq, Sep 2008].
            Transcript Variant: This variant (long) represents the longer and
            predominant transcript and it encodes the longer protein (isoform
            long).
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4779
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p12"
     gene            1..4779
                     /gene="TACR1"
                     /gene_synonym="NK1R; NKIR; SPR; TAC1R"
                     /note="tachykinin receptor 1"
                     /db_xref="GeneID:6869"
                     /db_xref="HGNC:HGNC:11526"
                     /db_xref="MIM:162323"
     misc_feature    494..496
                     /gene="TACR1"
                     /gene_synonym="NK1R; NKIR; SPR; TAC1R"
                     /note="upstream in-frame stop codon"
     CDS             587..1810
                     /gene="TACR1"
                     /gene_synonym="NK1R; NKIR; SPR; TAC1R"
                     /note="isoform long is encoded by transcript variant long;
                     tachykinin receptor 1 (substance P receptor; neurokinin-1
                     receptor); NK-1 receptor; NK-1R; neurokinin receptor 1"
                     /codon_start=1
                     /product="substance-P receptor isoform long"
                     /protein_id="NP_001049.1"
                     /db_xref="CCDS:CCDS1958.1"
                     /db_xref="GeneID:6869"
                     /db_xref="HGNC:HGNC:11526"
                     /db_xref="MIM:162323"
                     /translation="MDNVLPVDSDLSPNISTNTSEPNQFVQPAWQIVLWAAAYTVIVVT
                     SVVGNVVVMWIILAHKRMRTVTNYFLVNLAFAEASMAAFNTVVNFTYAVHNEWYYGLFY
                     CKFHNFFPIAAVFASIYSMTAVAFDRYMAIIHPLQPRLSATATKVVICVIWVLALLLAF
                     PQGYYSTTETMPSRVVCMIEWPEHPNKIYEKVYHICVTVLIYFLPLLVIGYAYTVVGIT
                     LWASEIPGDSSDRYHEQVSAKRKVVKMMIVVVCTFAICWLPFHIFFLLPYINPDLYLKK
                     FIQQVYLAIMWLAMSSTMYNPIIYCCLNDRFRLGFKHAFRCCPFISAGDYEGLEMKSTR
                     YLQTQGSVYKVSRLETTISTVVGAHEEEPEDGPKATPSSLDLTSNCSSRSDSKTMTESF
                     SFSSNVLS"
     misc_feature    626..628
                     /gene="TACR1"
                     /gene_synonym="NK1R; NKIR; SPR; TAC1R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P25103.1); glycosylation site"
     misc_feature    638..640
                     /gene="TACR1"
                     /gene_synonym="NK1R; NKIR; SPR; TAC1R"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P25103.1); glycosylation site"
     misc_feature    680..748
                     /gene="TACR1"
                     /gene_synonym="NK1R; NKIR; SPR; TAC1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P25103.1);
                     transmembrane region"
     misc_feature    779..844
                     /gene="TACR1"
                     /gene_synonym="NK1R; NKIR; SPR; TAC1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P25103.1);
                     transmembrane region"
     misc_feature    905..970
                     /gene="TACR1"
                     /gene_synonym="NK1R; NKIR; SPR; TAC1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P25103.1);
                     transmembrane region"
     misc_feature    1031..1093
                     /gene="TACR1"
                     /gene_synonym="NK1R; NKIR; SPR; TAC1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P25103.1);
                     transmembrane region"
     misc_feature    1169..1243
                     /gene="TACR1"
                     /gene_synonym="NK1R; NKIR; SPR; TAC1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P25103.1);
                     transmembrane region"
     misc_feature    1331..1396
                     /gene="TACR1"
                     /gene_synonym="NK1R; NKIR; SPR; TAC1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P25103.1);
                     transmembrane region"
     misc_feature    1436..1510
                     /gene="TACR1"
                     /gene_synonym="NK1R; NKIR; SPR; TAC1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P25103.1);
                     transmembrane region"
     misc_feature    1676..1807
                     /gene="TACR1"
                     /gene_synonym="NK1R; NKIR; SPR; TAC1R"
                     /note="propagated from UniProtKB/Swiss-Prot (P25103.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4759..4764
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TACR1"
                     /gene_synonym="NK1R; NKIR; SPR; TAC1R"
                     /note="hexamer: AATAAA"
     polyA_site      4779
                     /gene="TACR1"
                     /gene_synonym="NK1R; NKIR; SPR; TAC1R"
                     /note="major polyA site"
ORIGIN
        1 gagctgagca acccgaaccg agaggtgccc gcgaaactgc aggcggcggc agcggcagca
       61 aaagagaagg aaaaatctcc agctggatac gaagctccag aatcctggcc ataggctcag
      121 aacttttaca ggtcgcgctg caatgggccc ccacttcgct cctaagtcct cacgcagcac
      181 agggctttgc ctttccctgc ggaggaagga gaaataggag ttgcaggcag cagcaggtgc
      241 ataaatgcgg gggatctctt gcttcctaga actgtgaccg gtggaatttc tttccctttt
      301 tcagtttacc gcaagagaga tgctgtctcc agacttctga actcaaacgt ctcctgaagc
      361 ttgaaagtgg aggaattcag agccaccgcg ggcaggcggg cagtgcatcc agaagcgttt
      421 atattctgag cgccagttca gctttcaaaa agagtgctgc ccagaaaaag ccttccaccc
      481 tcctgtctgg ctttagaagg accctgagcc ccaggcgcca gccacaggac tctgctgcag
      541 aggggggttg tgtacagata gtagggcttt accgcctagc ttcgaaatgg ataacgtcct
      601 cccggtggac tcagacctct ccccaaacat ctccactaac acctcggaac ccaatcagtt
      661 cgtgcaacca gcctggcaaa ttgtcctttg ggcagctgcc tacacggtca ttgtggtgac
      721 ctctgtggtg ggcaacgtgg tagtgatgtg gatcatctta gcccacaaaa gaatgaggac
      781 agtgacgaac tattttctgg tgaacctggc cttcgcggag gcctccatgg ctgcattcaa
      841 tacagtggtg aacttcacct atgctgtcca caacgaatgg tactacggcc tgttctactg
      901 caagttccac aacttctttc ccatcgccgc tgtcttcgcc agtatctact ccatgacggc
      961 tgtggccttt gataggtaca tggccatcat acatcccctc cagccccggc tgtcagccac
     1021 agccaccaaa gtggtcatct gtgtcatctg ggtcctggct ctcctgctgg ccttccccca
     1081 gggctactac tcaaccacag agaccatgcc cagcagagtc gtgtgcatga tcgaatggcc
     1141 agagcatccg aacaagattt atgagaaagt gtaccacatc tgtgtgactg tgctgatcta
     1201 cttcctcccc ctgctggtga ttggctatgc atacaccgta gtgggaatca cactatgggc
     1261 cagtgagatc cccggggact cctctgaccg ctaccacgag caagtctctg ccaagcgcaa
     1321 ggtggtcaaa atgatgattg tcgtggtgtg caccttcgcc atctgctggc tgcccttcca
     1381 catcttcttc ctcctgccct acatcaaccc agatctctac ctgaagaagt ttatccagca
     1441 ggtctacctg gccatcatgt ggctggccat gagctccacc atgtacaacc ccatcatcta
     1501 ctgctgcctc aatgacaggt tccgtctggg cttcaagcat gccttccggt gctgcccctt
     1561 catcagcgcc ggcgactatg aggggctgga aatgaaatcc acccggtatc tccagaccca
     1621 gggcagtgtg tacaaagtca gccgcctgga gaccaccatc tccacagtgg tgggggccca
     1681 cgaggaggag ccagaggacg gccccaaggc cacaccctcg tccctggacc tgacctccaa
     1741 ctgctcttca cgaagtgact ccaagaccat gacagagagc ttcagcttct cctccaatgt
     1801 gctctcctag gccacagggc ctttggcagg tgcagccccc actgcctttg acctgcctcc
     1861 cttcatgcat ggaaattccc ttcatctgga accatcagaa acaccctcac actgggactt
     1921 gcaaaaaggg tcagtatggg ttagggaaaa cattccatcc ttgagtcaaa aaatctcaat
     1981 tcttccctat ctttgccacc ctcatgctgt gtgactcaaa ccaaatcact gaactttgct
     2041 gagcctgtaa aataaaaggt cggaccagct tttcccaaaa gcccattcat tccattctgg
     2101 aagtgacttt ggctgcatgc gagtgctcat ttcaggatga attctgcagc acagctgcgg
     2161 acccggaaga ctcattttcc tggagccccg tgttacttca ataaagttat ctcagattag
     2221 cctcctgcag ctggaggctc ctatcacccc agcctacgct tgacagggtg aacaaaagaa
     2281 ggcaccacat aacatctaaa tgaaaaattt agccctgtct tctaagcatc tgtgaaaaga
     2341 aacatatgta ttcccctttt tggcatctca gtatttcagt acatttatac atcatgagat
     2401 tgagaacctc gggcttccac attatgtccc cggtgactgt cctgagcagc cgacgcaagc
     2461 agaatatgtc cactgatacc tgctagttct cttacagacc aggaattggg agacttgcac
     2521 tacatttaat gtgtagttga ccctcttttc ctacttgtaa acaaggggac tgaactagat
     2581 aatctaagtg ttccttcgaa tcttaacatc ccgtggttca aggattgtat gagttttttg
     2641 tttgttttac aaaaaaaaac aaaacgaaga ataaaagaat agaaaagaat aggagcagtg
     2701 agtcttgtaa ctaataccca gttcctggag atgtagcaac tgctaaggcc atctgtaact
     2761 atccatctca gacattctcc gatttatctt aaaatcctga gtacattcct tctcatggaa
     2821 ggttttggct tttgacagag cagaggactt catgccaagg cctgcatcca tccagcttta
     2881 gcaggcagaa tttcatagct gcagaacact gtcagagaag acaaatgtgg gctccctgct
     2941 ttaacctttt gggtatttta gggtgggggc cctaaccttc attcttagtt ttacactagc
     3001 atcgtgctca tatgtgcgac aagcaagaag gctgcacttt gcagctgcac ttctgggaag
     3061 agggcatctt gcatcttccc ttcagactct ctgaatgtct cctccctgct ccatggcttt
     3121 gccagcttcc tgtctctaag gggtagaatg actcatcaac cctaaaggac agtcagtctt
     3181 ccaagagcca tgaactgaat gctttatatc ctaatttaga tttagagttt ccagaaggtg
     3241 agcatgcagt tttgttttgt ttttttttct gtctcccaaa tctgtgtttt ttccagatat
     3301 ggctggaagc agaagcttca tgtaacatcc atgaatgtcc tcctggtagt ttgcataatg
     3361 gatgcacatg tgccgcatcc ataacattaa ggggagaata atgcatggtt tacagccttt
     3421 gccagccctg ctggctctaa ttctaccagg gcatccacag gcctggggga agaagaaaca
     3481 gtataagcca gaaaacctca agaactacat tctctaaagc agcatggaaa gttttaaata
     3541 aactaagtga agccagatca ttgcagatat ataaatggaa gacaaaattt agaagcaaca
     3601 aaagttagtg ccctaagcat tagtcatact tccaatagag aatcttgctg tgtatggatt
     3661 actcactttg gaagaatgta aagagctaac atgattatga gaagtacctg agaagatggt
     3721 gtcaagaagt tggggacacc ccatctatgg aagagaaggt tagagttgag ctcaacgagg
     3781 attaactgag tgcctcctct ggactttgcc ctgaactggg aacacacagc ccctgcagct
     3841 cttgaagagc ctaccttatt ggccatcact aactaactca ccagtcctag tgagtctaag
     3901 ctgcccagca gtcttggagg catctgagag gacagattct ccacagaatt ctaaaaaccc
     3961 acactcaaca tgggcagtca agccaaagac tgggaccttt ggagagcctc tggaatgaga
     4021 gttctctggg gtacttccaa agggagctgg cagtcagtcc aggggaccta aaggaatttg
     4081 gttgaacagt atcatctctg tgcatagtaa gagggaatgt tgggtggtcc gggcagtttc
     4141 caatatggca aagcatctgc ttggacagtg ccagcaagcc ttcctctgac ccagtctcca
     4201 atgtccacta acttataaaa atgtcatcaa ctcccacatg taagaaacac catgatttgt
     4261 actgtgcatg ggtcacattc ttattctaga aatgcatcac cctgtgttta tccaagtgtg
     4321 tttacttggt gtaatgtcca gtagtaatag aatatgaaat atcaaggaac catctttgtt
     4381 acgtgacttc caaaatgtga gatctcattg ctgtcactgt gatatttgta ttgtgtgaat
     4441 ctcttcctcc tcttcctcct catgctttct cagggaggag ccctgatgta tatcatgaac
     4501 tcacagttcc tagaccacag taattgaggg gcggtggggg ggcctttatc ggagaagcta
     4561 gagaacaaga gtccttctcc tccttatccc ccaacaggac actaagagac aaggactgag
     4621 tggaatcctg gagaaagggg actcaggaac tgacctcatt ggcctgattt gtgaggagag
     4681 gagtataagt ggagaggggc cattcctgag gtttccgtgt tttccagcct ggtctcctgg
     4741 aaagaatctt tatacagaaa taaagtatgt gtttcactc
//
LOCUS       NM_001059               5359 bp    mRNA    linear   PRI 15-MAR-2023
DEFINITION  Homo sapiens tachykinin receptor 3 (TACR3), mRNA.
ACCESSION   NM_001059
VERSION     NM_001059.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5359)
  AUTHORS   Guo F, Fernando T, Zhu X and Shi Y.
  TITLE     The overexpression of neurokinin B-neurokinin 3 receptor system
            exerts direct effects on the ovary under PCOS-like conditions to
            interfere with mitochondrial function
  JOURNAL   Am J Reprod Immunol 89 (3), e13663 (2023)
   PUBMED   36453600
  REMARK    GeneRIF: The overexpression of neurokinin B-neurokinin 3 receptor
            system exerts direct effects on the ovary under PCOS-like conditions
            to interfere with mitochondrial function.
REFERENCE   2  (bases 1 to 5359)
  AUTHORS   Schank JR.
  TITLE     Neurokinin receptors in drug and alcohol addiction
  JOURNAL   Brain Res 1734, 146729 (2020)
   PUBMED   32067964
  REMARK    GeneRIF: Neurokinin receptors in drug and alcohol addiction. Review
            article
REFERENCE   3  (bases 1 to 5359)
  AUTHORS   Geng D, Yang X, Wang R, Deng S, Li L, Hu X, Jiang Y and Liu R.
  TITLE     A novel stopgain mutation c.G992A (p.W331X) in TACR3 gene was
            identified in nonobstructive azoospermia by targeted next-generation
            sequencing
  JOURNAL   J Clin Lab Anal 33 (3), e22700 (2019)
   PUBMED   30390321
  REMARK    GeneRIF: Identified a newly discovered stopgain mutation in
            tachykinin receptor 3 (TACR3) in nonobstructive azoospermia
            paitents.
REFERENCE   4  (bases 1 to 5359)
  AUTHORS   Obata K, Shimo T, Okui T, Matsumoto K, Takada H, Takabatake K,
            Kunisada Y, Ibaragi S, Yoshioka N, Kishimoto K, Nagatsuka H and
            Sasaki A.
  TITLE     Role of Neurokinin 3 Receptor Signaling in Oral Squamous Cell
            Carcinoma
  JOURNAL   Anticancer Res 37 (11), 6119-6123 (2017)
   PUBMED   29061792
  REMARK    GeneRIF: High NK-3R expression is associated with Oral Squamous Cell
            Carcinoma.
REFERENCE   5  (bases 1 to 5359)
  AUTHORS   Crandall CJ, Manson JE, Hohensee C, Horvath S, Wactawski-Wende J,
            LeBlanc ES, Vitolins MZ, Nassir R and Sinsheimer JS.
  TITLE     Association of genetic variation in the tachykinin receptor 3 locus
            with hot flashes and night sweats in the Women's Health Initiative
            Study
  JOURNAL   Menopause 24 (3), 252-261 (2017)
   PUBMED   28231077
  REMARK    GeneRIF: Three Single-nucleotide polymorphisms (on chromosomes 3 and
            11) were associated with vasomotor menopause symptoms in the African
            American group. However, 14 Single-nucleotide polymorphisms, all
            located on chromosome 4 in the tachykinin receptor 3 (TACR3) locus,
            had similar effect sizes across studies/participants' ancestry.
            Genetic variation in TACR3 may contribute to the risk of vasomotor
            menopause symptoms.
REFERENCE   6  (bases 1 to 5359)
  AUTHORS   Balasubramanian,R. and Crowley,W.F. Jr.
  TITLE     Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301509
REFERENCE   7  (bases 1 to 5359)
  AUTHORS   Xie GX, Miyajima A and Goldstein A.
  TITLE     Expression cloning of cDNA encoding a seven-helix receptor from
            human placenta with affinity for opioid ligands
  JOURNAL   Proc Natl Acad Sci U S A 89 (9), 4124-4128 (1992)
   PUBMED   1315051
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1992 Aug 1;89(15):7287]
REFERENCE   8  (bases 1 to 5359)
  AUTHORS   Huang RR, Cheung AH, Mazina KE, Strader CD and Fong TM.
  TITLE     cDNA sequence and heterologous expression of the human neurokinin-3
            receptor
  JOURNAL   Biochem Biophys Res Commun 184 (2), 966-972 (1992)
   PUBMED   1374246
REFERENCE   9  (bases 1 to 5359)
  AUTHORS   Buell G, Schulz MF, Arkinstall SJ, Maury K, Missotten M, Adami N,
            Talabot F and Kawashima E.
  TITLE     Molecular characterisation, expression and localisation of human
            neurokinin-3 receptor
  JOURNAL   FEBS Lett 299 (1), 90-95 (1992)
   PUBMED   1312036
REFERENCE   10  (bases 1 to 5359)
  AUTHORS   Takahashi K, Tanaka A, Hara M and Nakanishi S.
  TITLE     The primary structure and gene organization of human substance P and
            neuromedin K receptors
  JOURNAL   Eur J Biochem 204 (3), 1025-1033 (1992)
   PUBMED   1312928
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M89473.1, BC121806.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2144335,
            SAMEA2158188 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000304883.3/ ENSP00000303325.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004065.1, M89473.1 and
            AC105460.4.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001059.2.
            Summary: This gene belongs to a family of genes that function as
            receptors for tachykinins.  Receptor affinities are specified by
            variations in the 5'-end of the sequence.  The receptors belonging
            to this family are characterized by interactions with G proteins
            and 7 hydrophobic transmembrane regions.  This gene encodes the
            receptor for the tachykinin neurokinin 3, also referred to as
            neurokinin B. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5359
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q24"
     gene            1..5359
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="tachykinin receptor 3"
                     /db_xref="GeneID:6870"
                     /db_xref="HGNC:HGNC:11528"
                     /db_xref="MIM:162332"
     misc_feature    221..223
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="upstream in-frame stop codon"
     CDS             311..1708
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /EC_number="2.7.11.14"
                     /note="neurokinin B receptor; neurokinin beta receptor;
                     NK-3 receptor; NK3 receptor"
                     /codon_start=1
                     /product="neuromedin-K receptor"
                     /protein_id="NP_001050.1"
                     /db_xref="CCDS:CCDS3664.1"
                     /db_xref="GeneID:6870"
                     /db_xref="HGNC:HGNC:11528"
                     /db_xref="MIM:162332"
                     /translation="MATLPAAETWIDGGGGVGADAVNLTASLAAGAATGAVETGWLQLL
                     DQAGNLSSSPSALGLPVASPAPSQPWANLTNQFVQPSWRIALWSLAYGVVVAVAVLGNL
                     IVIWIILAHKRMRTVTNYFLVNLAFSDASMAAFNTLVNFIYALHSEWYFGANYCRFQNF
                     FPITAVFASIYSMTAIAVDRYMAIIDPLKPRLSATATKIVIGSIWILAFLLAFPQCLYS
                     KTKVMPGRTLCFVQWPEGPKQHFTYHIIVIILVYCFPLLIMGITYTIVGITLWGGEIPG
                     DTCDKYHEQLKAKRKVVKMMIIVVMTFAICWLPYHIYFILTAIYQQLNRWKYIQQVYLA
                     SFWLAMSSTMYNPIIYCCLNKRFRAGFKRAFRWCPFIKVSSYDELELKTTRFHPNRQSS
                     MYTVTRMESMTVVFDPNDADTTRSSRKKRATPRDPSFNGCSRRNSKSASATSSFISSPY
                     TSVDEYS"
     misc_feature    377..379
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P29371.1); glycosylation site"
     misc_feature    458..460
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P29371.1); glycosylation site"
     misc_feature    527..529
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P29371.1); glycosylation site"
     misc_feature    563..631
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="propagated from UniProtKB/Swiss-Prot (P29371.1);
                     transmembrane region"
     misc_feature    662..727
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="propagated from UniProtKB/Swiss-Prot (P29371.1);
                     transmembrane region"
     misc_feature    788..853
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="propagated from UniProtKB/Swiss-Prot (P29371.1);
                     transmembrane region"
     misc_feature    914..976
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="propagated from UniProtKB/Swiss-Prot (P29371.1);
                     transmembrane region"
     misc_feature    1046..1120
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="propagated from UniProtKB/Swiss-Prot (P29371.1);
                     transmembrane region"
     misc_feature    1208..1273
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="propagated from UniProtKB/Swiss-Prot (P29371.1);
                     transmembrane region"
     misc_feature    1313..1387
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="propagated from UniProtKB/Swiss-Prot (P29371.1);
                     transmembrane region"
     misc_feature    1553..1705
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="propagated from UniProtKB/Swiss-Prot (P29371.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3221..3226
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="hexamer: AATAAA"
     polyA_site      3246
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="major polyA site"
     regulatory      5335..5340
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="hexamer: ATTAAA"
     polyA_site      5359
                     /gene="TACR3"
                     /gene_synonym="HH11; NK-3R; NK3; NK3R; NKR; TAC3R; TAC3RL"
                     /note="major polyA site"
ORIGIN
        1 agttctccag cctgtgccgg gcagctggca ccctccctac gtgtgatgtg actcgataac
       61 ccttaatctc gggaggatct cattctttct gcctgccaga gccgcaagcg cctctgagaa
      121 agtgcagctg ttgcccctta gccccagctg catcccctaa ccagcaggga ttgcagtatc
      181 tttcagcttc cagtcttatc tgaagactcc ggcaccaaag tgaccaggag gcagagaaga
      241 acttcagagg agtctcgtct tgggctgccc gtgggtgagt gggagggtcc gggactgcag
      301 accggtggcg atggccactc tcccagcagc agaaacctgg atagacgggg gtggaggcgt
      361 gggtgcagac gccgtgaacc tgaccgcctc gctagctgcc ggggcggcca cgggggcagt
      421 tgagactggg tggctgcaac tgctggacca agctggcaac ctctcctcct ccccttccgc
      481 gctgggactg cctgtggctt cccccgcgcc ctcccagccc tgggccaacc tcaccaacca
      541 gttcgtgcag ccgtcctggc gcatcgcgct ctggtccctg gcgtatggtg tggtggtggc
      601 agtggcagtt ttgggaaatc tcatcgtcat ctggatcatc ctggcccaca agcgcatgag
      661 gactgtcacc aactacttcc ttgtgaacct ggctttctcc gacgcctcca tggccgcctt
      721 caacacgttg gtcaatttca tctacgcgct tcatagcgag tggtactttg gcgccaacta
      781 ctgccgcttc cagaacttct ttcctatcac agctgtgttc gccagcatct actccatgac
      841 ggccattgcg gtggacaggt atatggctat tattgatccc ttgaaaccca gactgtctgc
      901 tacagcaacc aagattgtca ttggaagtat ttggattcta gcatttctac ttgccttccc
      961 tcagtgtctt tattccaaaa ccaaagtcat gccaggccgt actctctgct ttgtgcaatg
     1021 gccagaaggt cccaaacaac atttcactta ccatattatc gtcattatac tggtgtactg
     1081 tttcccattg ctcatcatgg gtattacata caccattgtt ggaattactc tctggggagg
     1141 agaaatccca ggagatacct gtgacaagta tcatgagcag ctaaaggcca aaagaaaggt
     1201 tgtcaaaatg atgattattg ttgtcatgac atttgctatc tgctggctgc cctatcatat
     1261 ttacttcatt ctcactgcaa tctatcaaca actaaataga tggaaataca tccagcaggt
     1321 ctacctggct agcttttggc tggcaatgag ctcaaccatg tacaatccca tcatctactg
     1381 ctgtctgaat aaaagatttc gagctggctt caagagagca tttcgctggt gtcctttcat
     1441 caaagtttcc agctatgatg agctagagct caagaccacc aggtttcatc caaaccggca
     1501 aagcagtatg tacaccgtga ccagaatgga gtccatgaca gtcgtgtttg accccaacga
     1561 tgcagacacc accaggtcca gtcggaagaa aagagcaacg ccaagagacc caagtttcaa
     1621 tggctgctct cgcaggaatt ccaaatctgc ctccgccact tcaagtttca taagctcacc
     1681 ctatacctct gtggatgaat attcttaatt ccatttcctg aggtaaaaga ttagtgtgag
     1741 accatcatgg tgccagtcta ggaccccatt ctcctattta ccagtcctgt cctatatacc
     1801 ctctagaaac agaaagcaat ttttaggcag ctatggtcaa attgagaaag gtagtgtata
     1861 aatgtgacaa agacactaat aacatgttag cctccaccca aaataaaatg ggctttaaat
     1921 ttattctttg aaaactctaa attattatat gcaatgaaca aaaatatgtc aggaaaatac
     1981 ttgtaaactc gccagtctat ctcatttaca aattgcaata tacatttgtg acattaaaat
     2041 gatatatagt ttttccaaga gattaaagaa tctttaaaac ataatattgt aagtgaaggg
     2101 aaacaaaatc tgtataaaat ctgtataaaa taggcttttt tgcctagaga tataaaatgg
     2161 gaaaaaaagt taaatgattc attttcccac tagagtaatg gaaaattaac ctcaagaagt
     2221 aggaactgaa aatctttgct caagaaaact cattttgtag aatgtaaaga tttaaagatt
     2281 taaagatttc ttccatggca tttaactgaa aaggaaatct agttaaatca ttaggcaaat
     2341 gtatatttca ttctcttgat tttttttctg agaaagtgaa attttaaaaa attatatact
     2401 ttttgaccat tacttatttt tgaataccaa gctaaaaagt agtcagttaa gaccctaaaa
     2461 atatgaagaa aattcctatc attttttatt tttcacagat tttttaaata gctagattat
     2521 aaaacagtaa aggtacattc caataaatag aggaagaata ctatttatgt tctcttcctc
     2581 tcccctcact gaaaatagaa taaggactag gagaaaatat cttcaaaggc aactccttag
     2641 ggaaaaaaag tcacaagtgt gacaaaagac tatatggttg aaaaatacca atatatgtta
     2701 catatgagta aactaggcaa ggtgtagaca agtgaattac ctcttagaaa acgaatctgc
     2761 acaatagttt ggatacatgt aaactaataa cagctgagca agagggtgag tttaacacac
     2821 atccttccac agaaagacct tttctttcat ttgcttagat tattcagaag tcttaccaga
     2881 aagaaatgag ataatagtcc taagaaagca tcacatttac tacaagaaga tatatactag
     2941 cacatttctg agactcataa cataacaaga aatactttta agtgtaaaaa gtaacatcca
     3001 ggcctcagtg cttacagatc atctttcctt gaattaggga tactgttaat cctgctcaag
     3061 aaagcagaaa ctttttgaga atgtgaatgt gtagtacaaa cttctccttt aaactcttca
     3121 gtttgatttt taaagatatt tgtctaaaat aatactctct aacaaacact ttactgttgt
     3181 gcctccaccg atattaaaac aaaatatttt tgaagaacag aataaaagca aatattcaat
     3241 ggcaaatcat ggtctatttc tcaaatctct tccctatttt gaagccaaaa ccagaaatat
     3301 ccaattgtta caaaaagttc ggagtctaaa caagctaaac atatgtgttc cagctgaatt
     3361 tcttctgatg ataccaataa acaaagagac acacacacac acacacacac atacaaatgt
     3421 gcctacacat tcaatcattt aatgaatgca acaacttcaa agaattaaaa tcaaatactg
     3481 aaatgataag tggtcattac agcattgcca tatgctcaat aaagtctgtg aagcttgtgt
     3541 gcatgtttta aataagcaaa tttaatatat agtatctaat tgtttgaata taatgttttt
     3601 gaatgttcat tcttaaaaca tatatttatc atacaatgtt aaagtgtcaa gaaaaagcct
     3661 aatatgtaaa aagttattat tttcttaaat ttatgaatga tatggtacta gcattaatta
     3721 atgttttaga catatggaac catattcagc tgtaaaatat gaatatgaag tttagccctc
     3781 aaatttaatg tcatcagcca ctaccaaagt atcatacatt tgaaaaatat aactcctggc
     3841 cctcacatat tagagaaatt cagtagaatt ttctaagaca tttatttcta aggaaaaata
     3901 ctggcctcgt cagttggatt gttggtttgc tttggcttct gtgaacatac atattgttgt
     3961 gttgcttacc gagcacctcc cttctagtgt gacagaaata cccagacagt attttttcaa
     4021 tgctttccag aaaaaaactg gcatcattca ctcactactc atggccctta aactgagacc
     4081 tataggcaga attttttaag ttcaaaaatt taaacgacaa taataaaaca agagtgaaat
     4141 ataaaagaga agatttttca ctcttttgtc tgcattttga caataagaat tacagaataa
     4201 tgcacaaaat caaattcagt gagattcatt tttaaataaa gtcatcccag tgttttcata
     4261 tttgctaagc ttggaaagaa tctgccttca aaatttactc taccctctgt ttctaaagtt
     4321 cagtatgaat ctttccattg tttgaaggca aacactggct cagactacta ggcagatggt
     4381 taaaacagcc caggtttttt tacttagatc agtatcagaa aaattcaaaa tatttttaaa
     4441 caaatatgaa agaatcaaaa aggcttacat cattgtaagt attctctttt aaacaaaata
     4501 cattaaatca aaaataaaca ttgcttacta ttttgcatct ggacaaagta caagatattg
     4561 aaattacctg tatgggaaaa tattaaagcg gacataattg ttacagaatt cactctcaca
     4621 cttttttatt ttttaccaag tacagcacac tgttgcatta ttccatcttc taacttcatg
     4681 atggtgacat ttctgaccca gcagctgaat tcatgtcctt ttccaaatcc tgccaatgtc
     4741 ttagaaacag tgaactgagc aatttcagag tgaaccccgc ccttacaaag cacataaaga
     4801 ataccaagaa gcttggtatc aagcctatga aatacaaaat aaatgtgaaa aataaatgct
     4861 ggccagctca acatttgaat ttagtttttg caaatgcaaa atttcctcta aaaatttatg
     4921 attagtacct ggtaaactat ttcatcaaat agaaaagcag gagacttaca aacatttctc
     4981 acacttctaa cagtaacaat ttcctactta tcattgataa tatgtcaaaa gctaaggaaa
     5041 tccagaatga catggaccat gtagaacaat aaggttggaa taatttccct tagggccaag
     5101 caggaataga gaataaagtt cagaagggct gtacaaggtc attagttttg tgttttcata
     5161 catatatata tatatatgaa aaatctgttt atataagaag taaatgtata taaagtttgt
     5221 agtgaataaa gtattttcaa gttgtggtaa ttatattgaa tatgtttaat gtatttacac
     5281 cctttgcata tgtgataatg tgacagattt aatttctatt ttttctttaa aaacattaaa
     5341 actaatatta aaagtaaaa
//
LOCUS       NM_001060               2642 bp    mRNA    linear   PRI 28-MAR-2023
DEFINITION  Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a,
            mRNA.
ACCESSION   NM_001060
VERSION     NM_001060.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2642)
  AUTHORS   Ganai I, Saha I, Banerjee P, Laha A, Sultana S, Sultana N, Biswas H,
            Moitra S and Podder S.
  TITLE     In silico analysis of single nucleotide polymorphism (rs34377097) of
            TBXA2R gene and pollen induced bronchial asthma susceptibility in
            West Bengal population, India
  JOURNAL   Front Immunol 14, 1089514 (2023)
   PUBMED   36936944
  REMARK    GeneRIF: In silico analysis of single nucleotide polymorphism
            (rs34377097) of TBXA2R gene and pollen induced bronchial asthma
            susceptibility in West Bengal population, India. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2642)
  AUTHORS   Eckenstaler R, Ripperger A, Hauke M, Braun H, Ergun S, Schwedhelm E
            and Benndorf RA.
  TITLE     Thromboxane A2 receptor activation via
            Galpha13-RhoA/C-ROCK-LIMK2-dependent signal transduction inhibits
            angiogenic sprouting of human endothelial cells
  JOURNAL   Biochem Pharmacol 201, 115069 (2022)
   PUBMED   35525325
  REMARK    GeneRIF: Thromboxane A2 receptor activation via
            Galpha13-RhoA/C-ROCK-LIMK2-dependent signal transduction inhibits
            angiogenic sprouting of human endothelial cells.
REFERENCE   3  (bases 1 to 2642)
  AUTHORS   Liang X, Zhou Y and Li S.
  TITLE     Association of TBXA2R, P2Y12 and ADD1 genes polymorphisms with
            ischemic stroke susceptibility: A metaanalysis
  JOURNAL   Clin Invest Med 43 (3), E33-E43 (2020)
   PUBMED   32971583
  REMARK    GeneRIF: Association of TBXA2R, P2Y12 and ADD1 genes polymorphisms
            with ischemic stroke susceptibility: A metaanalysis. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 2642)
  AUTHORS   Coyle AT, Miggin SM and Kinsella BT.
  TITLE     Characterization of the 5' untranslated region of alpha and beta
            isoforms of the human thromboxane A2 receptor (TP). Differential
            promoter utilization by the TP isoforms
  JOURNAL   Eur J Biochem 269 (16), 4058-4073 (2002)
   PUBMED   12180983
  REMARK    GeneRIF: The role of TXA2R 5' UTR in differential isoform expression
            was studied. Exons E1 & E1b associated with TXA2R transcript(s), but
            their expression was mutually exclusive. Major transcription
            initiation sites were between -115 & -92 in E1 & at -99 in E1b.
REFERENCE   5  (bases 1 to 2642)
  AUTHORS   Saffak T and Nusing RM.
  TITLE     The 5' region of the human thromboxane A(2) receptor gene
  JOURNAL   Prostaglandins Leukot Essent Fatty Acids 67 (1), 25-31 (2002)
   PUBMED   12213432
  REMARK    GeneRIF: Transcriptional activity of the 5'flanking region
REFERENCE   6  (bases 1 to 2642)
  AUTHORS   Hirata T, Ushikubi F, Kakizuka A, Okuma M and Narumiya S.
  TITLE     Two thromboxane A2 receptor isoforms in human platelets. Opposite
            coupling to adenylyl cyclase with different sensitivity to Arg60 to
            Leu mutation
  JOURNAL   J Clin Invest 97 (4), 949-956 (1996)
   PUBMED   8613548
REFERENCE   7  (bases 1 to 2642)
  AUTHORS   Raychowdhury,M.K., Yukawa,M., Collins,L.J., McGrail,S.H., Kent,K.C.
            and Ware,J.A.
  TITLE     Alternative splicing produces a divergent cytoplasmic tail in the
            human endothelial thromboxane A2 receptor
  JOURNAL   J Biol Chem 270 (12), 7011 (1995)
   PUBMED   7896853
  REMARK    Correction to:[J Biol Chem. 1994 Jul 29;269(30):19256-61. PMID:
            8034687]
REFERENCE   8  (bases 1 to 2642)
  AUTHORS   Hirata T, Kakizuka A, Ushikubi F, Fuse I, Okuma M and Narumiya S.
  TITLE     Arg60 to Leu mutation of the human thromboxane A2 receptor in a
            dominantly inherited bleeding disorder
  JOURNAL   J Clin Invest 94 (4), 1662-1667 (1994)
   PUBMED   7929844
REFERENCE   9  (bases 1 to 2642)
  AUTHORS   Nusing RM, Hirata M, Kakizuka A, Eki T, Ozawa K and Narumiya S.
  TITLE     Characterization and chromosomal mapping of the human thromboxane A2
            receptor gene
  JOURNAL   J Biol Chem 268 (33), 25253-25259 (1993)
   PUBMED   8227091
REFERENCE   10  (bases 1 to 2642)
  AUTHORS   Hirata M, Hayashi Y, Ushikubi F, Yokota Y, Kageyama R, Nakanishi S
            and Narumiya S.
  TITLE     Cloning and expression of cDNA for a human thromboxane A2 receptor
  JOURNAL   Nature 349 (6310), 617-620 (1991)
   PUBMED   1825698
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.29402.1,
            SRR18074969.791827.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375190.10/ ENSP00000364336.4
            RefSeq Select criteria      :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005175.1, BC028027.1,
            AY429110.1, BC121148.1 and BM990145.1.
            On Aug 31, 2019 this sequence version replaced NM_001060.5.
            Summary: This gene encodes a member of the G protein-coupled
            receptor family. The protein interacts with thromboxane A2 to
            induce platelet aggregation and regulate hemostasis. A mutation in
            this gene results in a bleeding disorder. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Oct 2009].
            Transcript Variant: This variant (a) represents the longer
            transcript but encodes the shorter isoform (alpha).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2642
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..2642
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="thromboxane A2 receptor"
                     /db_xref="GeneID:6915"
                     /db_xref="HGNC:HGNC:11608"
                     /db_xref="MIM:188070"
     misc_feature    403..405
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="upstream in-frame stop codon"
     CDS             430..1461
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="isoform alpha is encoded by transcript variant a;
                     prostanoid TP receptor"
                     /codon_start=1
                     /product="thromboxane A2 receptor isoform alpha"
                     /protein_id="NP_001051.1"
                     /db_xref="CCDS:CCDS42467.1"
                     /db_xref="GeneID:6915"
                     /db_xref="HGNC:HGNC:11608"
                     /db_xref="MIM:188070"
                     /translation="MWPNGSSLGPCFRPTNITLEERRLIASPWFAASFCVVGLASNLLA
                     LSVLAGARQGGSHTRSSFLTFLCGLVLTDFLGLLVTGTIVVSQHAALFEWHAVDPGCRL
                     CRFMGVVMIFFGLSPLLLGAAMASERYLGITRPFSRPAVASQRRAWATVGLVWAAALAL
                     GLLPLLGVGRYTVQYPGSWCFLTLGAESGDVAFGLLFSMLGGLSVGLSFLLNTVSVATL
                     CHVYHGQEAAQQRPRDSEVEMMAQLLGIMVVASVCWLPLLVFIAQTVLRNPPAMSPAGQ
                     LSRTTEKELLIYLRVATWNQILDPWVYILFRRAVLRRLQPRLSTRPRSLSLQPQLTQRS
                     GLQ"
     misc_feature    439..441
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P21731.3); glycosylation site"
     misc_feature    475..477
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="N-linked (GlcNAc...) asparagine; propagated from
                     UniProtKB/Swiss-Prot (P21731.3); glycosylation site"
     misc_feature    517..585
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P21731.3);
                     transmembrane region"
     misc_feature    628..690
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P21731.3);
                     transmembrane region"
     misc_feature    748..813
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P21731.3);
                     transmembrane region"
     misc_feature    877..945
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P21731.3);
                     transmembrane region"
     misc_feature    1009..1086
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P21731.3);
                     transmembrane region"
     misc_feature    1168..1239
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P21731.3);
                     transmembrane region"
     misc_feature    1297..1362
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="propagated from UniProtKB/Swiss-Prot (P21731.3);
                     transmembrane region"
     misc_feature    1414..1416
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P21731.3); phosphorylation site"
     misc_feature    1420..1422
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P30987; propagated from
                     UniProtKB/Swiss-Prot (P21731.3); phosphorylation site"
     regulatory      2346..2351
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="hexamer: AATATA"
     polyA_site      2369
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="major polyA site"
     regulatory      2621..2626
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
                     /note="hexamer: ATTAAA"
     polyA_site      2642
                     /gene="TBXA2R"
                     /gene_synonym="BDPLT13; TXA2-R"
ORIGIN
        1 agagactgga cggagagagc gagccgcggg ctgccagcgg cccccacccg tcccagctcg
       61 gcttagcccc cgcggacccc tccaggccgc gaccccaggg cgtcctgtgc cgccacgccc
      121 tccatctgtg tgggtcctct gctgggcccg cccctggtca cagccagact gactcagttt
      181 ccctgggagg tcccgctcga gcccgtcctt cccctccctc tgcccgcccc cagccctcgc
      241 cccaccctcg gcgcccgcac atctgcctgc tcagctccag acggcgcccg gacccccggg
      301 cgcgggatcc agccaggtgg gagccccgca gatgaggtct ctgaaggtgt gcctgaacca
      361 gtgccagcct gccctgtctg cagcatcggc ctgatggggt ggtgactgat ccctcagggc
      421 tccggagcca tgtggcccaa cggcagttcc ctggggccct gtttccggcc cacaaacatt
      481 accctggagg agagacggct gatcgcctcg ccctggttcg ccgcctcctt ctgcgtggtg
      541 ggcctggcct ccaacctgct ggccctgagc gtgctggcgg gcgcgcggca ggggggttcg
      601 cacacgcgct cctccttcct caccttcctc tgcggcctcg tcctcaccga cttcctgggg
      661 ctgctggtga ccggtaccat cgtggtgtcc cagcacgccg cgctcttcga gtggcacgcc
      721 gtggaccctg gctgccgtct ctgtcgcttc atgggcgtcg tcatgatctt cttcggcctg
      781 tccccgctgc tgctgggggc cgccatggcc tcagagcgct acctgggtat cacccggccc
      841 ttctcgcgcc cggcggtcgc ctcgcagcgc cgcgcctggg ccaccgtggg gctggtgtgg
      901 gcggccgcgc tggcgctggg cctgctgccc ctgctgggcg tgggtcgcta caccgtgcaa
      961 tacccggggt cctggtgctt cctgacgctg ggcgccgagt ccggggacgt ggccttcggg
     1021 ctgctcttct ccatgctggg cggcctctcg gtcgggctgt ccttcctgct gaacacggtc
     1081 agcgtggcca ccctgtgcca cgtctaccac gggcaggagg cggcccagca gcgtccccgg
     1141 gactccgagg tggagatgat ggctcagctc ctggggatca tggtggtggc cagcgtgtgt
     1201 tggctgcccc ttctggtctt catcgcccag acagtgctgc gaaacccgcc tgccatgagc
     1261 cccgccgggc agctgtcccg caccacggag aaggagctgc tcatctactt gcgcgtggcc
     1321 acctggaacc agatcctgga cccctgggtg tatatcctgt tccgccgcgc cgtgctccgg
     1381 cgtctccagc ctcgcctcag cacccggccc aggtcgctgt ccctccagcc ccagctcacg
     1441 cagcgctccg ggctgcagta ggaagtggac agagcgcccc tcccgcgcct ttccgcggag
     1501 cccttggccc ctcggacagc ccatctgcct gttctgagga ttcaggggct gggggtgctg
     1561 gatggacagt gggcatcagc agcagggttt tgggttgacc ccaatccaac ccggggaccc
     1621 ccaactcctc cctgatcctt ttaccaagca ctctcccttc ctcggcccct ttttcccatc
     1681 cagagctccc accccttctc tgcgtccctc ccaaccccag gaagggcatg cagacattgg
     1741 aagagggtct tgcattgcta tttttttttt tagacggagt cttgctctgt cccccaggct
     1801 ggagtgcagt ggcgcaatct cagctcactg caacctccac ctcccgggtt caagcgattc
     1861 tcctgcctca gcctcctgag tagctgggac tataggcgcg cgccaccacg cccggctaat
     1921 ttttgtattt ttagtagaga cggggtttca ccgtgttggc caggctggtc ttgaactcct
     1981 gacctcaggt gattcaccag cctcagcctc ccaaagtgct gggatcacag gcatgaacca
     2041 ccacacctgg ccattttttt tttttttttt agacggagtc tcactctgtg gcccagcctg
     2101 gagtacagtg gcacgatctc ggctcactgc aacctccgcc tcccgggttc aagcgattct
     2161 cgtgcctcag cctcccgagc agctgggatt acaggcgtaa gccactgcgc ccggccttgc
     2221 atgctctttg accctgaatt tgacctactt gctggggtac agttgcttcc ttttgaacct
     2281 ccaacaggga aggctctgtc cagaaaggat tgaatgtgaa cgggggcacc cccttttctt
     2341 gccaaaatat atctctgcct ttggttttat tttcctttgg gtccagaagt tttcaatctc
     2401 tggagtttgt gcattgggcc tcacccggag cagacgaggg cagggctggg aaggatgggg
     2461 agggacatag aggattcggt tcctccccca ccttgtttct tgagtgtttc ctaatcactt
     2521 gatgggtggt accacctaga attcttccag cagcctgtaa tgggagggct acaggttagc
     2581 cctggaacct gcaatcaaac cacctttgaa tctgtgtgtc attaaaagta gatataaatg
     2641 gg
//
LOCUS       NM_001061               1923 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens thromboxane A synthase 1 (TBXAS1), transcript variant
            1, mRNA.
ACCESSION   NM_001061
VERSION     NM_001061.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1923)
  AUTHORS   Peng J, Lu F, Zhong M, Zhao Y, Wang Z and Zhang W.
  TITLE     TBXAS1 Gene Polymorphism Is Associated with the Risk of Ischemic
            Stroke of Metabolic Syndrome in a Chinese Han Population
  JOURNAL   Dis Markers 2022, 9717510 (2022)
   PUBMED   35923246
  REMARK    GeneRIF: TBXAS1 Gene Polymorphism Is Associated with the Risk of
            Ischemic Stroke of Metabolic Syndrome in a Chinese Han Population.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1923)
  AUTHORS   Wang LH and Kulmacz RJ.
  TITLE     Thromboxane synthase: structure and function of protein and gene
  JOURNAL   Prostaglandins Other Lipid Mediat 68-69, 409-422 (2002)
   PUBMED   12432933
  REMARK    GeneRIF: structure and function of the gene and protein - review
            Review article
REFERENCE   3  (bases 1 to 1923)
  AUTHORS   Tazawa R, Green ED, Ohashi K, Wu KK and Wang LH.
  TITLE     Characterization of the complete genomic structure of human
            thromboxane synthase gene and functional analysis of its promoter
  JOURNAL   Arch Biochem Biophys 334 (2), 349-356 (1996)
   PUBMED   8900410
REFERENCE   4  (bases 1 to 1923)
  AUTHORS   Baek SJ, Lee KD and Shen RF.
  TITLE     Genomic structure and polymorphism of the human thromboxane
            synthase-encoding gene
  JOURNAL   Gene 173 (2), 251-256 (1996)
   PUBMED   8964509
REFERENCE   5  (bases 1 to 1923)
  AUTHORS   Wang LH, Tazawa R, Lang AQ and Wu KK.
  TITLE     Alternate splicing of human thromboxane synthase mRNA
  JOURNAL   Arch Biochem Biophys 315 (2), 273-278 (1994)
   PUBMED   7986068
REFERENCE   6  (bases 1 to 1923)
  AUTHORS   Miyata A, Yokoyama C, Ihara H, Bandoh S, Takeda O, Takahashi E and
            Tanabe T.
  TITLE     Characterization of the human gene (TBXAS1) encoding thromboxane
            synthase
  JOURNAL   Eur J Biochem 224 (2), 273-279 (1994)
   PUBMED   7925341
REFERENCE   7  (bases 1 to 1923)
  AUTHORS   Lee KD, Baek SJ and Shen RF.
  TITLE     Cloning and characterization of the human thromboxane synthase gene
            promoter
  JOURNAL   Biochem Biophys Res Commun 201 (1), 379-387 (1994)
   PUBMED   8198598
REFERENCE   8  (bases 1 to 1923)
  AUTHORS   Ohashi K, Ruan KH, Kulmacz RJ, Wu KK and Wang LH.
  TITLE     Primary structure of human thromboxane synthase determined from the
            cDNA sequence
  JOURNAL   J Biol Chem 267 (2), 789-793 (1992)
   PUBMED   1730669
REFERENCE   9  (bases 1 to 1923)
  AUTHORS   Yokoyama C, Miyata A, Ihara H, Ullrich V and Tanabe T.
  TITLE     Molecular cloning of human platelet thromboxane A synthase
  JOURNAL   Biochem Biophys Res Commun 178 (3), 1479-1484 (1991)
   PUBMED   1714723
REFERENCE   10  (bases 1 to 1923)
  AUTHORS   Nusing R, Schneider-Voss S and Ullrich V.
  TITLE     Immunoaffinity purification of human thromboxane synthase
  JOURNAL   Arch Biochem Biophys 280 (2), 325-330 (1990)
   PUBMED   2195994
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC041157.1, M80647.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
            (PMID:2195994)
            MANE Ensembl match :: ENST00000448866.7/ ENSP00000402536.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006021.2, AC004914.1,
            KF459643.1 and AC004961.2.
            On Sep 27, 2019 this sequence version replaced NM_001061.6.
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            However, this protein is considered a member of the cytochrome P450
            superfamily on the basis of sequence similarity rather than
            functional similarity. This endoplasmic reticulum membrane protein
            catalyzes the conversion of prostglandin H2 to thromboxane A2, a
            potent vasoconstrictor and inducer of platelet aggregation. The
            enzyme plays a role in several pathophysiological processes
            including hemostasis, cardiovascular disease, and stroke.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Aug
            2008].
            Transcript Variant: This variant (1) encodes isoform 1, which is
            also known as isoform TXS-I. Both variants 1 and 3 encode the same
            isoform.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1923
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..1923
                     /gene="TBXAS1"
                     /gene_synonym="BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS;
                     TXAS; TXS"
                     /note="thromboxane A synthase 1"
                     /db_xref="GeneID:6916"
                     /db_xref="HGNC:HGNC:11609"
                     /db_xref="MIM:274180"
     misc_feature    62..64
                     /gene="TBXAS1"
                     /gene_synonym="BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS;
                     TXAS; TXS"
                     /note="upstream in-frame stop codon"
     misc_feature    125..127
                     /gene="TBXAS1"
                     /gene_synonym="BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS;
                     TXAS; TXS"
                     /note="upstream_AUG_codon; putative N-terminal extension:
                     M"
     CDS             128..1729
                     /gene="TBXAS1"
                     /gene_synonym="BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS;
                     TXAS; TXS"
                     /EC_number="5.3.99.5"
                     /EC_number="4.2.1.152"
                     /note="isoform 1 is encoded by transcript variant 1; TXA
                     synthase; cytochrome P450, family 5, subfamily A,
                     polypeptide 1; platelet, cytochrome P450, subfamily V;
                     cytochrome P450 5A1; thromboxane A synthase 1 (platelet);
                     hydroperoxy icosatetraenoate dehydratase"
                     /codon_start=1
                     /product="thromboxane-A synthase isoform 1"
                     /protein_id="NP_001052.3"
                     /db_xref="CCDS:CCDS5855.2"
                     /db_xref="GeneID:6916"
                     /db_xref="HGNC:HGNC:11609"
                     /db_xref="MIM:274180"
                     /translation="MEALGFLKLEVNGPMVTVALSVALLALLKWYSTSAFSRLEKLGLR
                     HPKPSPFIGNLTFFRQGFWESQMELRKLYGPLCGYYLGRRMFIVISEPDMIKQVLVENF
                     SNFTNRMASGLEFKSVADSVLFLRDKRWEEVRGALMSAFSPEKLNEMVPLISQACDLLL
                     AHLKRYAESGDAFDIQRCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIP
                     RPILVLLLSFPSIMVPLARILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQM
                     VLDARHSASPMGVQDFDIVRDVFSSTGCKPNPSRQHQPSPMARPLTVDEIVGQAFIFLI
                     AGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAE
                     TLRMYPPAFRFTREAAQDCEVLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERFTA
                     EARQQHRPFTYLPFGAGPRSCLGVRLGLLEVKLTLLHVLHKFRFQACPETQVPLQLESK
                     SALGPKNGVYIKIVSR"
     misc_feature    158..220
                     /gene="TBXAS1"
                     /gene_synonym="BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS;
                     TXAS; TXS"
                     /note="propagated from UniProtKB/Swiss-Prot (P24557.3);
                     transmembrane region"
     misc_feature    353..415
                     /gene="TBXAS1"
                     /gene_synonym="BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS;
                     TXAS; TXS"
                     /note="propagated from UniProtKB/Swiss-Prot (P24557.3);
                     transmembrane region"
     misc_feature    797..859
                     /gene="TBXAS1"
                     /gene_synonym="BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS;
                     TXAS; TXS"
                     /note="propagated from UniProtKB/Swiss-Prot (P24557.3);
                     transmembrane region"
     misc_feature    1133..1195
                     /gene="TBXAS1"
                     /gene_synonym="BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS;
                     TXAS; TXS"
                     /note="propagated from UniProtKB/Swiss-Prot (P24557.3);
                     transmembrane region"
     regulatory      1887..1892
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBXAS1"
                     /gene_synonym="BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS;
                     TXAS; TXS"
                     /note="hexamer: AATAAA"
     polyA_site      1923
                     /gene="TBXAS1"
                     /gene_synonym="BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS;
                     TXAS; TXS"
                     /note="major polyA site"
ORIGIN
        1 actccatgtg atgtttgctt ggttgcctgt tcccttttct acctgcagag cacggttccc
       61 ataagggcgg cgagatcagc ctcctgtctc atctggaaga ccaccactct ggggtctcag
      121 aggaatgatg gaagccttgg ggtttctaaa attggaagtg aatggcccca tggtgacggt
      181 ggccctgtca gtggctctct tggccctcct gaaatggtac tccacatcag cattctcaag
      241 actggagaag ttaggcctca gacatcccaa gccttctcct ttcattggaa acttgacatt
      301 tttccgccag ggtttttggg aaagccaaat ggagctcaga aagctgtatg gacctctgtg
      361 tgggtactat cttggtcgtc ggatgtttat tgttatttct gagccagaca tgatcaagca
      421 ggtgttggtt gagaacttca gtaactttac caacagaatg gcgtcgggtt tggagttcaa
      481 gtcggtagcc gacagcgttc tgtttttacg tgacaaaaga tgggaagagg tcagaggtgc
      541 cctgatgtct gctttcagtc ctgaaaagct gaacgagatg gttcccctca tcagccaagc
      601 ctgcgacctt ctcctggctc atttaaaacg ctatgcggaa tctggggacg catttgacat
      661 ccagaggtgc tactgcaatt acaccacaga tgtggttgcc agcgtcgcct ttggcacccc
      721 ggtggactcc tggcaggccc ctgaggatcc ctttgtgaaa cactgcaagc gtttcttcga
      781 attctgcatc cccagaccta tcctggtttt actcttatca tttccatcca taatggtccc
      841 actggcccgg attttgccca ataagaaccg agacgaactg aatggctttt ttaacaaact
      901 cattaggaat gtgattgcct tgcgggacca gcaagctgcc gaagagaggc ggagagactt
      961 cctccaaatg gtcctggatg cccgacattc tgcaagtccc atgggcgtgc aagactttga
     1021 catcgtcaga gacgttttct cctctactgg gtgcaagccg aacccttccc ggcaacacca
     1081 gcccagccct atggccaggc ctttgactgt ggatgagatt gtgggccagg ccttcatctt
     1141 cctcatcgct ggctatgaaa tcatcaccaa cacactttct tttgccacct acctactggc
     1201 caccaaccct gactgccaag agaagcttct gagagaggta gacgttttta aggagaaaca
     1261 catggcccct gagttctgca gcctcgagga aggcctgccc tatctggaca tggtgattgc
     1321 agagacgctg aggatgtacc cgccagcttt cagattcaca cgggaggcag ctcaggactg
     1381 cgaggtgctg gggcagcgca tccccgcagg cgctgtgcta gagatggccg tgggtgccct
     1441 gcaccatgac cctgagcact ggccaagccc ggagaccttc aaccctgaaa ggttcacggc
     1501 tgaggcccgg cagcagcacc ggcccttcac gtacctgccc ttcggggccg gcccacggag
     1561 ctgcctcggg gtgcgtctag ggctgcttga ggtcaagttg acactgctcc acgtgctgca
     1621 caagttccgg ttccaagcct gccctgagac ccaggtaccg ctgcagctag aatccaaatc
     1681 tgccctaggt ccaaaaaatg gtgtctatat caagatcgta tcccgctgac acagaaggct
     1741 gccgggtggg gggagggcac ccccaaattc aaagaaaacc ctaagtgtgg atgttcagaa
     1801 ttttggaaaa atgtcactga agtgattgaa agagtgcctg gcatgcaagg ataagaggtt
     1861 ctttacataa catttcctaa atgcttaata aacgtttgtt gcacttggtt ttgacattgc
     1921 caa
//
LOCUS       NM_001062               1486 bp    mRNA    linear   PRI 26-JUN-2023
DEFINITION  Homo sapiens transcobalamin 1 (TCN1), mRNA.
ACCESSION   NM_001062
VERSION     NM_001062.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1486)
  AUTHORS   Knudsen CS, Parkner T, Hoffmann-Lucke E, Abildgaard A and Greibe E.
  TITLE     Reference intervals and stability of haptocorrin and
            holotranscobalamin in Danish children and elderly
  JOURNAL   Clin Chim Acta 546, 117394 (2023)
   PUBMED   37209861
  REMARK    GeneRIF: Reference intervals and stability of haptocorrin and
            holotranscobalamin in Danish children and elderly.
REFERENCE   2  (bases 1 to 1486)
  AUTHORS   Zhu X, Jiang X, Zhang Q, Huang H, Shi X, Hou D and Xing C.
  TITLE     TCN1 Deficiency Inhibits the Malignancy of Colorectal Cancer Cells
            by Regulating the ITGB4 Pathway
  JOURNAL   Gut Liver 17 (3), 412-429 (2023)
   PUBMED   35686504
  REMARK    GeneRIF: TCN1 Deficiency Inhibits the Malignancy of Colorectal
            Cancer Cells by Regulating the ITGB4 Pathway.
REFERENCE   3  (bases 1 to 1486)
  AUTHORS   Zhu X, Zhou G, Ma M, Hou D, Huang H, Jiang X and Xing PhD C.
  TITLE     Clinicopathological Analysis and Prognostic Assessment of TCN1 in
            Patients with Gastric Cancer
  JOURNAL   Surg Innov 29 (5), 557-565 (2022)
   PUBMED   34549663
  REMARK    GeneRIF: Clinicopathological Analysis and Prognostic Assessment of
            TCN1 in Patients with Gastric Cancer.
REFERENCE   4  (bases 1 to 1486)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1486)
  AUTHORS   Zhu X, Yi K, Hou D, Huang H, Jiang X, Shi X and Xing C.
  TITLE     Clinicopathological Analysis and Prognostic Assessment of
            Transcobalamin I (TCN1) in Patients with Colorectal Tumors
  JOURNAL   Med Sci Monit 26, e923828 (2020)
   PUBMED   32753569
  REMARK    GeneRIF: Clinicopathological Analysis and Prognostic Assessment of
            Transcobalamin I (TCN1) in Patients with Colorectal Tumors.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1486)
  AUTHORS   Garau G, Fedosov SN, Petersen TE, Geremia S and Randaccio L.
  TITLE     Crystallization and preliminary X-ray diffraction analysis of human
            transcobalamin, a vitamin B12-transporting protein
  JOURNAL   Acta Crystallogr D Biol Crystallogr 57 (Pt 12), 1890-1892 (2001)
   PUBMED   11717507
REFERENCE   7  (bases 1 to 1486)
  AUTHORS   Nielsen R, Sorensen BS, Birn H, Christensen EI and Nexo E.
  TITLE     Transcellular transport of vitamin B(12) in LLC-PK1 renal proximal
            tubule cells
  JOURNAL   J Am Soc Nephrol 12 (6), 1099-1106 (2001)
   PUBMED   11373332
REFERENCE   8  (bases 1 to 1486)
  AUTHORS   Johnston J, Yang-Feng T and Berliner N.
  TITLE     Genomic structure and mapping of the chromosomal gene for
            transcobalamin I (TCN1): comparison to human intrinsic factor
  JOURNAL   Genomics 12 (3), 459-464 (1992)
   PUBMED   1463480
  REMARK    Erratum:[Genomics 1992 Sep;14(1):208]
REFERENCE   9  (bases 1 to 1486)
  AUTHORS   Johnston J, Bollekens J, Allen RH and Berliner N.
  TITLE     Structure of the cDNA encoding transcobalamin I, a neutrophil
            granule protein
  JOURNAL   J Biol Chem 264 (27), 15754-15757 (1989)
   PUBMED   2777761
REFERENCE   10  (bases 1 to 1486)
  AUTHORS   Burger,R.L., Mehlman,C.S. and Allen,R.H.
  TITLE     Human plasma R-type vitamin B12-binding proteins. I. Isolation and
            characterization of transcobalamin I. TRANSCOBALAMIN III. and the
            normal granulocyte vitamin B12-binding protein
  JOURNAL   J Biol Chem 250 (19), 7700-7706 (1975)
   PUBMED   1176444
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC018632.1, J05068.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000257264.4/ ENSP00000257264.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from J05068.1, BC018632.1,
            BM769693.1 and BM818792.1.
            On Nov 23, 2018 this sequence version replaced NM_001062.3.
            Summary: This gene encodes a member of the vitamin B12-binding
            protein family. This family of proteins, alternatively referred to
            as R binders, is expressed in various tissues and secretions. This
            protein is a major constituent of secondary granules in neutrophils
            and facilitates the transport of cobalamin into cells. [provided by
            RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1486
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..1486
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /note="transcobalamin 1"
                     /db_xref="GeneID:6947"
                     /db_xref="HGNC:HGNC:11652"
                     /db_xref="MIM:189905"
     CDS             18..1319
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /note="haptocorin; haptocorrin; protein R; transcobalamin I
                     (vitamin B12 binding protein, R binder family)"
                     /codon_start=1
                     /product="transcobalamin-1 precursor"
                     /protein_id="NP_001053.2"
                     /db_xref="CCDS:CCDS7978.1"
                     /db_xref="GeneID:6947"
                     /db_xref="HGNC:HGNC:11652"
                     /db_xref="MIM:189905"
                     /translation="MRQSHQLPLVGLLLFSFIPSQLCEICEVSEENYIRLKPLLNTMIQ
                     SNYNRGTSAVNVVLSLKLVGIQIQTLMQKMIQQIKYNVKSRLSDVSSGELALIILALGV
                     CRNAEENLIYDYHLIDKLENKFQAEIENMEAHNGTPLTNYYQLSLDVLALCLFNGNYST
                     AEVVNHFTPENKNYYFGSQFSVDTGAMAVLALTCVKKSLINGQIKADEGSLKNISIYTK
                     SLVEKILSEKKENGLIGNTFSTGEAMQALFVSSDYYNENDWNCQQTLNTVLTEISQGAF
                     SNPNAAAQVLPALMGKTFLDINKDSSCVSASGNFNISADEPITVTPPDSQSYISVNYSV
                     RINETYFTNVTVLNGSVFLSVMEKAQKMNDTIFGFTMEERSWGPYITCIQGLCANNNDR
                     TYWELLSGGEPLSQGAGSYVVRNGENLEVRWSKY"
     sig_peptide     18..86
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     87..1316
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /product="transcobalamin-1"
     misc_feature    87..947
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /note="propagated from UniProtKB/Swiss-Prot (P20061.2);
                     Region: Globular N-terminal alpha domain"
     misc_feature    495..497
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P20061.2); glycosylation site"
     misc_feature    663..665
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:16740002, ECO:0000269|PubMed:23846701;
                     propagated from UniProtKB/Swiss-Prot (P20061.2);
                     glycosylation site"
     misc_feature    948..1013
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /note="propagated from UniProtKB/Swiss-Prot (P20061.2);
                     Region: Flexible linker"
     misc_feature    963..965
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:23846701; propagated from
                     UniProtKB/Swiss-Prot (P20061.2); glycosylation site"
     misc_feature    1014..1316
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /note="propagated from UniProtKB/Swiss-Prot (P20061.2);
                     Region: Globular C-terminal beta domain"
     misc_feature    1026..1028
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:23846701; propagated from
                     UniProtKB/Swiss-Prot (P20061.2); glycosylation site"
     misc_feature    1044..1046
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:23846701; propagated from
                     UniProtKB/Swiss-Prot (P20061.2); glycosylation site"
     misc_feature    1062..1064
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:23846701; propagated from
                     UniProtKB/Swiss-Prot (P20061.2); glycosylation site"
     misc_feature    1077..1079
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:23846701; propagated from
                     UniProtKB/Swiss-Prot (P20061.2); glycosylation site"
     misc_feature    1122..1124
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16740002,
                     ECO:0000269|PubMed:23846701; propagated from
                     UniProtKB/Swiss-Prot (P20061.2); glycosylation site"
     regulatory      1456..1461
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /note="hexamer: AATAAA"
     polyA_site      1486
                     /gene="TCN1"
                     /gene_synonym="HC; TC-1; TC1; TCI"
                     /note="major polyA site"
ORIGIN
        1 ggtacactgt tggagagatg agacagtcac accagctgcc cctagtgggg ctcttactgt
       61 tttcttttat tccaagccaa ctatgcgaga tttgtgaggt aagtgaagaa aactacatcc
      121 gcctaaaacc tctgttgaat acaatgatcc agtcaaacta taacagggga accagcgctg
      181 tcaatgttgt gttgtccctc aaacttgttg gaatccagat ccaaaccctg atgcaaaaga
      241 tgatccaaca aatcaaatac aatgtgaaaa gcagattgtc agatgtaagc tcgggagagc
      301 ttgccttgat tatactggct ttgggagtat gtcgtaacgc tgaggaaaac ttaatatatg
      361 attaccacct gatcgacaag ctagaaaata aattccaagc agaaattgaa aatatggaag
      421 cacacaatgg cactcccctg actaactact accagctcag cctggacgtt ttggccttgt
      481 gtctgttcaa tgggaactac tcaaccgccg aagttgtcaa ccacttcact cctgaaaata
      541 aaaactatta ttttggtagc cagttctcag tagatactgg tgcaatggct gtcctggctc
      601 tgacctgtgt gaagaagagt ctaataaatg ggcagatcaa agcagatgaa ggcagtttaa
      661 agaacatcag tatttataca aagtcactgg tagaaaagat tctgtctgag aaaaaagaaa
      721 atggtctcat tggaaacaca tttagcacag gagaagccat gcaggccctc tttgtatcat
      781 cagactatta taatgaaaat gactggaatt gccaacaaac tctgaataca gtgctcacgg
      841 aaatttctca aggagcattc agcaatccaa acgctgcagc ccaggtctta cctgccctga
      901 tgggaaagac cttcttggat attaacaaag actcttcttg cgtctctgct tcaggtaact
      961 tcaacatctc cgctgatgag cctataactg tgacacctcc tgactcacaa tcatatatct
     1021 ccgtcaatta ctctgtgaga atcaatgaaa catatttcac caatgtcact gtgctaaatg
     1081 gttctgtctt cctcagtgtg atggagaaag cccagaaaat gaatgatact atatttggtt
     1141 tcacaatgga ggagcgctca tgggggccct atatcacctg tattcagggc ctatgtgcca
     1201 acaataatga cagaacctac tgggaacttc tgagtggagg cgaaccactg agccaaggag
     1261 ctggtagtta cgttgtccgc aatggagaaa acttggaggt tcgctggagc aaatactaat
     1321 aagcccaaac tttcctcagc tgcataaaat ccatttgcag tggagttcca tgtttattgt
     1381 ccttatgcct tcttcttcat ttatcccagt acgagcagga gagttaataa cctccccttc
     1441 tctctctaca tgttcaataa aagttgttga aagattaaca actata
//
LOCUS       NM_001063              20166 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens transferrin (TF), transcript variant 1, mRNA.
ACCESSION   NM_001063
VERSION     NM_001063.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 20166)
  AUTHORS   Patel CK, Rani C, Kumar R and Mukherjee TK.
  TITLE     Macromolecular Crowding Promotes Re-entrant Liquid-Liquid Phase
            Separation of Human Serum Transferrin and Prevents Surface-Induced
            Fibrillation
  JOURNAL   Biomacromolecules 24 (8), 3917-3928 (2023)
   PUBMED   37503577
  REMARK    GeneRIF: Macromolecular Crowding Promotes Re-entrant Liquid-Liquid
            Phase Separation of Human Serum Transferrin and Prevents
            Surface-Induced Fibrillation.
REFERENCE   2  (bases 1 to 20166)
  AUTHORS   Kameda K, Yanagiya R, Miyatake Y, Carreras J, Higuchi H, Murayama H,
            Ishida T, Ito A, Iida S, Fukuhara N, Harigae H, Fujioka Y, Takahashi
            N, Wada H, Ishida F, Nakazawa H, Ishihara R, Murakami Y, Tagawa H,
            Matsuura T, Nakagawa S, Iwabuchi S, Hashimoto S, Imadome KI,
            Nakamura N, Ishizawa K, Kanda Y, Ando K and Kotani A.
  TITLE     The hepatic niche leads to aggressive natural killer cell leukemia
            proliferation through the transferrin-transferrin receptor 1 axis
  JOURNAL   Blood 142 (4), 352-364 (2023)
   PUBMED   37146246
  REMARK    GeneRIF: The hepatic niche leads to aggressive natural killer cell
            leukemia proliferation through the transferrin-transferrin receptor
            1 axis.
REFERENCE   3  (bases 1 to 20166)
  AUTHORS   Gaiatto ACM, Bibo TA, de Godoy Moreira N, Raimundo JRS, da Costa
            Aguiar Alves B, Gascon T, Carvalho SS, Pereira EC, Fonseca FLA and
            da Veiga GL.
  TITLE     COVID-19 compromises iron homeostasis: Transferrin as a target of
            investigation
  JOURNAL   J Trace Elem Med Biol 76, 127109 (2023)
   PUBMED   36509021
  REMARK    GeneRIF: COVID-19 compromises iron homeostasis: Transferrin as a
            target of investigation.
REFERENCE   4  (bases 1 to 20166)
  AUTHORS   Azmerin M, Hussain MS, Aziz MA, Barek MA, Begum M, Sen N, Rahman MA,
            Shahriar M, Baeesa SS, Ashraf GM and Islam MS.
  TITLE     TF and TCF4 gene polymorphisms are linked to autism spectrum
            disorder: a case-control study
  JOURNAL   J Int Med Res 50 (11), 3000605221138492 (2022)
   PUBMED   36448207
  REMARK    GeneRIF: TF and TCF4 gene polymorphisms are linked to autism
            spectrum disorder: a case-control study.
REFERENCE   5  (bases 1 to 20166)
  AUTHORS   Claise C, Saleh J, Rezek M, Vaulont S, Peyssonnaux C and Edeas M.
  TITLE     Low transferrin levels predict heightened inflammation in patients
            with COVID-19: New insights
  JOURNAL   Int J Infect Dis 116, 74-79 (2022)
   PUBMED   34952211
  REMARK    GeneRIF: Low transferrin levels predict heightened inflammation in
            patients with COVID-19: New insights.
REFERENCE   6  (bases 1 to 20166)
  AUTHORS   Dawson SJ and White LA.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   7  (bases 1 to 20166)
  AUTHORS   Hershberger CL, Larson JL, Arnold B, Rosteck PR Jr, Williams P,
            DeHoff B, Dunn P, O'Neal KL, Riemen MW, Tice PA et al.
  TITLE     A cloned gene for human transferrin
  JOURNAL   Ann N Y Acad Sci 646, 140-154 (1991)
   PUBMED   1809186
  REMARK    Review article
REFERENCE   8  (bases 1 to 20166)
  AUTHORS   Woodworth RC, Mason AB, Funk WD and MacGillivray RT.
  TITLE     Expression and initial characterization of five site-directed
            mutants of the N-terminal half-molecule of human transferrin
  JOURNAL   Biochemistry 30 (45), 10824-10829 (1991)
   PUBMED   1932003
REFERENCE   9  (bases 1 to 20166)
  AUTHORS   Guillou F, Zakin MM, Part D, Boissier F and Schaeffer E.
  TITLE     Sertoli cell-specific expression of the human transferrin gene.
            Comparison with the liver-specific expression
  JOURNAL   J Biol Chem 266 (15), 9876-9884 (1991)
   PUBMED   1851757
REFERENCE   10  (bases 1 to 20166)
  AUTHORS   Dautry-Varsat,A.
  TITLE     Receptor-mediated endocytosis: the intracellular journey of
            transferrin and its receptor
  JOURNAL   Biochimie 68 (3), 375-381 (1986)
   PUBMED   2874839
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.111522.1,
            SRR1660809.219437.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000402696.9/ ENSP00000385834.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC083905.20 and AC080128.21.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001063.3.
            Summary: This gene encodes a glycoprotein with an approximate
            molecular weight of 76.5 kDa. It is thought to have been created as
            a result of an ancient gene duplication event that led to
            generation of homologous C and N-terminal domains each of which
            binds one ion of ferric iron. The function of this protein is to
            transport iron from the intestine, reticuloendothelial system, and
            liver parenchymal cells to all proliferating cells in the body.
            This protein may also have a physiologic role as
            granulocyte/pollen-binding protein (GPBP) involved in the removal
            of certain organic matter and allergens from serum. [provided by
            RefSeq, Sep 2009].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..20166
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     gene            1..20166
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
                     /note="transferrin"
                     /db_xref="GeneID:7018"
                     /db_xref="HGNC:HGNC:11740"
                     /db_xref="MIM:190000"
     CDS             49..2145
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; serotransferrin; siderophilin; beta-1 metal-binding
                     globulin; epididymis secretory sperm binding protein Li
                     71p"
                     /codon_start=1
                     /product="serotransferrin isoform 1 precursor"
                     /protein_id="NP_001054.2"
                     /db_xref="CCDS:CCDS3080.1"
                     /db_xref="GeneID:7018"
                     /db_xref="HGNC:HGNC:11740"
                     /db_xref="MIM:190000"
                     /translation="MRLAVGALLVCAVLGLCLAVPDKTVRWCAVSEHEATKCQSFRDHM
                     KSVIPSDGPSVACVKKASYLDCIRAIAANEADAVTLDAGLVYDAYLAPNNLKPVVAEFY
                     GSKEDPQTFYYAVAVVKKDSGFQMNQLRGKKSCHTGLGRSAGWNIPIGLLYCDLPEPRK
                     PLEKAVANFFSGSCAPCADGTDFPQLCQLCPGCGCSTLNQYFGYSGAFKCLKDGAGDVA
                     FVKHSTIFENLANKADRDQYELLCLDNTRKPVDEYKDCHLAQVPSHTVVARSMGGKEDL
                     IWELLNQAQEHFGKDKSKEFQLFSSPHGKDLLFKDSAHGFLKVPPRMDAKMYLGYEYVT
                     AIRNLREGTCPEAPTDECKPVKWCALSHHERLKCDEWSVNSVGKIECVSAETTEDCIAK
                     IMNGEADAMSLDGGFVYIAGKCGLVPVLAENYNKSDNCEDTPEAGYFAIAVVKKSASDL
                     TWDNLKGKKSCHTAVGRTAGWNIPMGLLYNKINHCRFDEFFSEGCAPGSKKDSSLCKLC
                     MGSGLNLCEPNNKEGYYGYTGAFRCLVEKGDVAFVKHQTVPQNTGGKNPDPWAKNLNEK
                     DYELLCLDGTRKPVEEYANCHLARAPNHAVVTRKDKEACVHKILRQQQHLFGSNVTDCS
                     GNFCLFRSETKDLLFRDDTVCLAKLHDRNTYEKYLGEEYVKAVGNLRKCSTSSLLEACT
                     FRRP"
     sig_peptide     49..105
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     106..2142
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
                     /product="serotransferrin isoform 1"
     misc_feature    172..174
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
                     /note="Dimethylated arginine.
                     /evidence=ECO:0000250|UniProtKB:P12346; propagated from
                     UniProtKB/Swiss-Prot (P02787.4); methylation site"
     misc_feature    199..201
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
                     /note="O-linked (GalNAc...) serine. /id=CAR_000073;
                     propagated from UniProtKB/Swiss-Prot (P02787.4);
                     glycosylation site"
     misc_feature    1213..1215
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P02787.4); phosphorylation site"
     misc_feature    1342..1344
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:15084671, ECO:0000269|PubMed:15536627,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19838169, ECO:0000269|PubMed:22327295,
                     ECO:0000269|PubMed:31636418, ECO:0007744|PDB:6SOY,
                     ECO:0007744|PDB:6SOZ. /id=CAR_000074; propagated from
                     UniProtKB/Swiss-Prot (P02787.4); glycosylation site"
     misc_feature    1519..1521
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
                     /note="N-linked (GlcNAc...) asparagine, atypical, partial.
                     /evidence=ECO:0000269|PubMed:15536627; propagated from
                     UniProtKB/Swiss-Prot (P02787.4); glycosylation site"
     misc_feature    1936..1938
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:15084671, ECO:0000269|PubMed:15536627,
                     ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:16740002,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:19838169, ECO:0000269|PubMed:22327295.
                     /id=CAR_000075; propagated from UniProtKB/Swiss-Prot
                     (P02787.4); glycosylation site"
     misc_feature    2101..2103
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
                     /note="Phosphoserine, by FAM20C.
                     /evidence=ECO:0000269|PubMed:26091039; propagated from
                     UniProtKB/Swiss-Prot (P02787.4); phosphorylation site"
     regulatory      2288..2293
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
                     /note="hexamer: AATAAA"
     polyA_site      2321
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
                     /note="major polyA site"
     regulatory      2511..2516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
                     /note="hexamer: ATTAAA"
     polyA_site      2531
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
     regulatory      11384..11389
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
                     /note="hexamer: AGTAAA"
     polyA_site      11404
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
     regulatory      20141..20146
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
                     /note="hexamer: AATAAA"
     polyA_site      20166
                     /gene="TF"
                     /gene_synonym="HEL-S-71p; PRO1557; PRO2086; TFQTL1"
ORIGIN
        1 acagaagcga gtccgactgt gctcgctgct cagcgccgca cccggaagat gaggctcgcc
       61 gtgggagccc tgctggtctg cgccgtcctg gggctgtgtc tggctgtccc tgataaaact
      121 gtgagatggt gtgcagtgtc ggagcatgag gccactaagt gccagagttt ccgcgaccat
      181 atgaaaagcg tcattccatc cgatggtccc agtgttgctt gtgtgaagaa agcctcctac
      241 cttgattgca tcagggccat tgcggcaaac gaagcggatg ctgtgacact ggatgcaggt
      301 ttggtgtatg atgcttacct ggctcccaat aacctgaagc ctgtggtggc agagttctat
      361 gggtcaaaag aggatccaca gactttctat tatgctgttg ctgtggtgaa gaaggatagt
      421 ggcttccaga tgaaccagct tcgaggcaag aagtcctgcc acacgggtct aggcaggtcc
      481 gctgggtgga acatccccat aggcttactt tactgtgact tacctgagcc acgtaaacct
      541 cttgagaaag cagtggccaa tttcttctcg ggcagctgtg ccccttgtgc ggatgggacg
      601 gacttccccc agctgtgtca actgtgtcca gggtgtggct gctccaccct taaccaatac
      661 ttcggctact cgggagcctt caagtgtctg aaggatggtg ctggggatgt ggcctttgtc
      721 aagcactcga ctatatttga gaacttggca aacaaggctg acagggacca gtatgagctg
      781 ctttgcctgg acaacacccg gaagccggta gatgaataca aggactgcca cttggcccag
      841 gtcccttctc ataccgtcgt ggcccgaagt atgggcggca aggaggactt gatctgggag
      901 cttctcaacc aggcccagga acattttggc aaagacaaat caaaagaatt ccaactattc
      961 agctctcctc atgggaagga cctgctgttt aaggactctg cccacgggtt tttaaaagtc
     1021 ccccccagga tggatgccaa gatgtacctg ggctatgagt atgtcactgc catccggaat
     1081 ctacgggaag gcacatgccc agaagcccca acagatgaat gcaagcctgt gaagtggtgt
     1141 gcgctgagcc accacgagag gctcaagtgt gatgagtgga gtgttaacag tgtagggaaa
     1201 atagagtgtg tatcagcaga gaccaccgaa gactgcatcg ccaagatcat gaatggagaa
     1261 gctgatgcca tgagcttgga tggagggttt gtctacatag cgggcaagtg tggtctggtg
     1321 cctgtcttgg cagaaaacta caataagagc gataattgtg aggatacacc agaggcaggg
     1381 tattttgcta tagcagtggt gaagaaatca gcttctgacc tcacctggga caatctgaaa
     1441 ggcaagaagt cctgccatac ggcagttggc agaaccgctg gctggaacat ccccatgggc
     1501 ctgctctaca ataagatcaa ccactgcaga tttgatgaat ttttcagtga aggttgtgcc
     1561 cctgggtcta agaaagactc cagtctctgt aagctgtgta tgggctcagg cctaaacctg
     1621 tgtgaaccca acaacaaaga gggatactac ggctacacag gcgctttcag gtgtctggtt
     1681 gagaagggag atgtggcctt tgtgaaacac cagactgtcc cacagaacac tgggggaaaa
     1741 aaccctgatc catgggctaa gaatctgaat gaaaaagact atgagttgct gtgccttgat
     1801 ggtaccagga aacctgtgga ggagtatgcg aactgccacc tggccagagc cccgaatcac
     1861 gctgtggtca cacggaaaga taaggaagct tgcgtccaca agatattacg tcaacagcag
     1921 cacctatttg gaagcaacgt aactgactgc tcgggcaact tttgtttgtt ccggtcggaa
     1981 accaaggacc ttctgttcag agatgacaca gtatgtttgg ccaaacttca tgacagaaac
     2041 acatatgaaa aatacttagg agaagaatat gtcaaggctg ttggtaacct gagaaaatgc
     2101 tccacctcat cactcctgga agcctgcact ttccgtagac cttaaaatct cagaggtagg
     2161 gctgccacca aggtgaagat gggaacgcag atgatccatg agtttgccct ggtttcactg
     2221 gcccaagtgg tttgtgctaa ccacgtctgt cttcacagct ctgtgttgcc atgtgtgctg
     2281 aacaaaaaat aaaaattatt attgatttta tatttcaaaa actccattct ttcctaaata
     2341 ttttcaacaa aggatttctt tatgcattct gcctaaatac ctatgcaact gagcccttcc
     2401 ttctcagctc aagattcgtc tggtctttcc ctacagcttt gtgtgtgcca tggccacatc
     2461 tcctgggtac agttcaagga gacatctttt ctaaaagggt ctgcgtgatc attaaaatat
     2521 aatcaaatgt atactggtgt gtgtgtgcac gtgcgcgtgc gtgtgtcatg ctaaggaagg
     2581 ggcaagaagg aggatgcaga gtgagttaca gagatcaagt actcaagtga gtacagaaag
     2641 actacagaag acttaccttt atttggtatt ttaaatgaat tccatcaggc tgaggtcctg
     2701 attctaacta gctgaaaaaa gtgaaacact gacatctttt ttgctgaaaa gcattccctg
     2761 agcttgatgc cacagcagtt actgccctgt ctcctgccct tctcagccca gcttcctgta
     2821 aggtggaggc tgacttttct gtctcactta ttattggctg aacatacaga atttggtctt
     2881 ctgcttcacc aacttacctg aatgtaccct ggcaaaagtc accgtctacc tgccaactgt
     2941 taaaccaatt caggtcttcc attcctgagc ccatttcctg cagttgataa agttgaccac
     3001 tccctcctcc ttggaactct tttcctcagt ttctctgaca tggcaggtct ctgctttgat
     3061 tcctacctct ctctgttcat ttgtagtctt cactgtgggc tcatcctact ggcctggaaa
     3121 ccttagggaa atcttcctgg ggttttctct tgatctggtc agtgctcctc tcactttgca
     3181 ggccctcctt cagtgatgct catgactcct aggcatctgt atctatagct gtgaccccag
     3241 cctccagcag tatccctgca cttatacatc ctactaccta cctgtgggtc tatactcgag
     3301 tcttgcagca gtcagaaacc caacaaatca aaaattgaag tgatcatcct gttcttctct
     3361 ctcttgcttc cctaaaccaa ctgttgttat agtatattcc atatcagctg aagacctggt
     3421 catctaccca atcacataag ccataaatag aggggtgaaa tttcagttcg ccattttccc
     3481 tcacactaca tccagcgtca ccaagttctg ttgattttgc tttctaaata acttcagttg
     3541 gctcctttct tttcctgact cctaacacag cctcatctta tactcaaata cagaagtgca
     3601 gataaggggt atctggacac aacattccac acctctctca actgtctagt attcaagaaa
     3661 ataggactct gggtccactt tgcagtccag acctgatatg gaccgtttta cacacagccc
     3721 tgctttcctc tgagcctatc aacgatctgc cttatttaat attaacctaa acttacccca
     3781 aatcctataa ctctgccttt tcctttgttt ggtgagatac cccatggctc ccctgggacg
     3841 cagtctgtct cattgcaatg gatcaataaa cctaatttta ttacactaca ggtatattcc
     3901 tggaagtctt agacaactgg gctaaaacaa aaatattcaa catccattct taattattaa
     3961 attagttact aaaataggat agacagatgt tatttggcca taattttata tacatgtaaa
     4021 caaaagctaa tacataccta atgatgaaga aacagaagca ttcctactaa agttaggaac
     4081 atgaaaaaaa ttgattacta tctatcttat tttacagtgt tttagaacag gtggccaatc
     4141 caattataca agaaaaataa gttataatat ttaaagaaat gccaaaatta cttttatttg
     4201 taagtgatta tacacctagg aaatccatga gaaccaaata ataataaagt attatggcca
     4261 ggcgcagtgg ttcatgccta taatcccagc attttgggag gctgaggtgg gtggatcacc
     4321 tgaggtcagg agttcaagac cagcctggcc aacatggcga aaccccatct cttctaaaaa
     4381 tacaaaaatt agcctggttt ggtggcacac acctgtagtc ccagctactc aggaggctga
     4441 agcatgagaa gtgcttgatc ctgggaggca gaggttgcag tgagccaagg tcgcaccaga
     4501 gcactccagc ctagtgacag agcaagactc tgtctggaaa ataataaaaa taataataat
     4561 aggcagggcg tggtggctca cacctgtaat ctcagcactt tgggaggcca agtcgggcgg
     4621 atcacctgag gtcaggagtt cgagaccagc ttgacaacat ggagaaactc catctctact
     4681 taaaataaaa attagccggg cgtagtggtg catgcctgta atcccagcta ctcgggaggc
     4741 tgaggcggga gaattgcttg aacctgggag gcagaagttg tggtgagccg agatcgcacc
     4801 attgcactcc agtctagaca acaagagcaa aactctgtct caaaataata aaaataataa
     4861 taataataaa taaagtggta aaagtggtaa gataaaattc agtaaagtga aaggaaatat
     4921 taaaataaaa aataactttc ttttatacaa ataatagtga gttaggacaa taataattaa
     4981 caagaataaa taaaatgtat catttagtaa attaataaaa gctacattta aaccacactt
     5041 atcaaagtaa aaaataatgt aaagaagaca tattgctttg gataggaaga ctcagtattg
     5101 taaagatgtc aattctccct aaattaatca atatacaatt ttttaacttg acaaaatgat
     5161 actaatcctc aactaaaaaa caaaagtgag acagataaga aaaattctga tgagagtgga
     5221 agagctcttc cagctgttaa aatgtaatga taagctcctg aaccttggcc ttagcaatga
     5281 ttttttggct atcacatcaa aagcccaggc cacaaaagca aaaataaata aatgggacta
     5341 catcaagctg aaaagcttct gcatagcaaa gacaacaagc aacaaaatga aatggcaacc
     5401 tatggattgg aaaaaatatt tgcaaactat atatctaata agatacaaca aattgataaa
     5461 gaactcatac aactcaatag caggaaaaca aatgatccca gttaaaaatg ggcaaaaacc
     5521 tgaaaagaca tttctccaag aagaaaaatg gccaagatgg atatgaaaag gtgttcaaca
     5581 tcactaatca taagggaaat gtgaattgaa accattatga gacactagat aataatagga
     5641 tgactattat caaaaagtca aaagatatta atcataaacg tggataaggg tgaagagaac
     5701 agaaaacctt tgtgcattgt tggtgagaat gtacagccat tgtggaaaac agtatggagg
     5761 tttctaaata aactgaaaat agggctacat atgacccaac aatccctctt taggggatat
     5821 acacaaataa aatgagatag ccaccttgta gagataaatg tgatcccacg ttcattgcag
     5881 cattgcagcc aatataggga agcaacctaa atgcctgttg aagaatgaat ggataaagaa
     5941 actgtataca cacacacaca cacacaatgg aatattattc agccctaaaa agaatatctt
     6001 gccatttgcc acaacatgga tgaaactgga ggatattaag tgaaataagg cagatacaga
     6061 aagaaaaata ttacacgatt tcactcacat ggggaatcta aagaaaacac tcaaatacag
     6121 gtatacagag ataacaaaac ctgaggtgga ggagggtgga gagatgtagg tcagaggata
     6181 caaagcagca gataggaggg ctaggcgcag tggctcactc ctgtaatccc aggactttgg
     6241 gaggcagagg tgggcagatt gcttgagtcc aggagtttga gaccagccta ggcaacatga
     6301 caaaacccca tctctgcaaa aaaaaaaaaa aaaacaaaaa aaaccccaaa aaaccaaaac
     6361 aacaacaaac aaacaagcaa acaaaacaca cacacacaaa aaaaattagc gaggagtgct
     6421 ggtgcccacc tgtagtccca gctactcagg aggatggatt gagcctggga ggtcgaggct
     6481 gcagtgagca gtgatttgat cgtgccactg cactccagcc tggggacagg agaccccgtc
     6541 tcaaacaaaa caaaaccaag tagcagatat gcatgatgaa caagcctaga gatctaatgt
     6601 acaacataag gaccacagta taggtaataa attctacttt atttgggatt cctccttcac
     6661 tgtagtaatc tttttttaac tatgtatgta tctcataaca tgttgtatac cttaaatata
     6721 ttcaacgaag cttattttaa aaaatgaaat gtataatgat gactggaaag ggtggtagtc
     6781 acatggaaat aatgaagcag aataaaagtt ccagatatta aatgcaaatg agaatttatt
     6841 acatgataaa gctggcatta tactcggggg ggacagatag gctactcact gaagtgttta
     6901 gaagcagagt agctgaaaat tttggcgcag aagaaaatct cgtggacctc caacttaccg
     6961 gttaaagtaa aaactttcga aacgtataaa ggtttaaata taaaattaaa atcgtaaaaa
     7021 caattactat gttaacatat ttcttatata gtacttagat tttccaacat tccacaaacc
     7081 tagtagcaat taaggaaaat attaatttca gatcatataa aattcagaag tcctgtaaga
     7141 caaaaataga caaataaaat gtgaagattt ttaagaaaga acaaagggct aatctatatt
     7201 ttgaaatcag tataaaaaga cgaacagaat ttgagatgtg agcgcggaca gctctgctgg
     7261 gccctccagg ccctccgccc ggtagaaccc ggagccctgg ccgcggctgc cccaccgggc
     7321 ccatttcttg aagcagcggc gaaccacttt tcctccccga cctgccggct gcagggtctc
     7381 cccgcccaac cctgccaggc tcagacgaag cttctgctga gccgcctgga cgcagcgccc
     7441 ctgggtggcg gcaggtatag cagggcggga agcagggagg cggccccaac gccgcggagg
     7501 ccaccagcgg gtgcagaggg ccaggaaagc tggtctgcgc gcggctcagc tgcctccgta
     7561 ggccatggag ccgagcagat ccgggtcttc gggtggccgc aatgtcccaa gtggacgaca
     7621 cccacctagt cccgaggaca accgacaaag tccttaatgg gcccagaagg tgaggggagt
     7681 ccggcaatga ggggtggtag ggttagcggc catcgcccag ctcgtcttcc ttctaccaga
     7741 cgctggtgct ggaaaagaga agtgtaagaa taacttgcgc cattaggccc atcggaaagg
     7801 cccaccaccc tttaggaaga ttactggctg tttatagaag gcccgtgtat atcctatgaa
     7861 gaagctgctc tcaacttccc ccccagcctt ttaaaagaaa acatttgcta catcgagccg
     7921 ttctaggtgt aaagaggttg tgacttatga tagagttaga aaatcacaca tcttgtaaat
     7981 tcccatttgt taaaaaaata ataataataa taataataat aataataata ataggacata
     8041 aatggcttct ggagatgact ttttgcaatg aagttgttag accacctctg gaagtgacag
     8101 caggagccac acatccacgt ttattaagtg agttagagca ggagtcccca acccctggat
     8161 ctaggttgca cgctccttat gagactctaa taatgcctga tgatctgagg tggaacagtt
     8221 tcatcctgaa accatgcccc taccttccat ggaaaaattg ccttccgtga aaccattccc
     8281 tggtgccaaa gaggttgggg accactgggt tagaggacat ggggcagaag acctgagaag
     8341 gaagagagga cagttctgtg ccacactggt catatttaga agacattttc atattccaac
     8401 cattgttctg tgtgtgcatt ttatttctca cgactgtata tgtagttaac aatactattt
     8461 tttagggagg tgggggggtc agccccccgc ctggccagcc gccccgtccg ggagggaggt
     8521 gggggggtca gccccccgcc cggccagccg ccccgtctgg gaggtgaggg gcgcctctgc
     8581 ccggccgccc ctactgggaa gtgaggagcc cctctgccag gccagccgcc ccgtccggga
     8641 gggaggtggg ggggtcagcc ccccgcccgg ccagccgccc tgtccgggag ggaggtgggg
     8701 gggtcagccc tccgcccggc cagccgcccc gtctgggagg tgaggggcgc ctctgcccgg
     8761 ccgcccctac tgggaagtga ggagcccctc tgcccggcca gccgccccgt ccgggaggga
     8821 ggtggggggg tcggcccccc gcccgaccag ccgccccatc cgggagggag gtgggggggt
     8881 cagccccccg cccggccagc cgccctgtcc gggagggagg tgggggtgtc agccccacgc
     8941 ccggccagcc gcctcgtccg ggagggaggt gggggggtca gccccccgcc cggccagccg
     9001 ccccgtccgg gagggaggtg gggggggtca gcccccctgc ccggccagtg gccccgtccg
     9061 ggaggtgagg ggcgcctctg cccggctgcc cctactggga agtgaggagc ccctctgccc
     9121 ggccagccgc ccgtccggga gggagagtgg ggggtcagcc cccccccgcc cggccagccg
     9181 ccctgtccgg gaggtgaggg gcgcctctgc ccagccacca cccggtctgg gaggtgtgcc
     9241 caacagctca ttgagaacgg gccaggatga caatggcggc cttgtggaat agaaaggcgg
     9301 gaaaggcggg gaaaagattg agaaatcgga tggttgccgt gtctgtgtag aaagaagtag
     9361 acatgggaga cttttcattt tgttctgcac taagaaaaat tcctctgtct tgggatcctg
     9421 ttgatctgtg accttacccc caaccctgtg ctctctgaaa catgtgctgt gtccactcag
     9481 ggttaaatgg attaagggcg gtgcaagatg tgctttgtta aacagatgct tgaaggcagc
     9541 atgctcgtta agagtcatcg ccaatcccta atctcaagta atcagggaca caaacactgc
     9601 ggaaggccgc agggtcctct gcctaggaaa accagagacc tttgttcact tgtttatctg
     9661 ctgaccttcc ctccactatt gtcccatgac cctgccaaat ccccctctgt gagaaacacc
     9721 caagaattat caataaaaaa ataaattaaa aaaaaaaaaa aaaaacaata ctattttttg
     9781 aactatctac cctttctaga tgttctgaaa tgcctatgtt aaaattagag atagtaaaat
     9841 aacacatttt gtaaatcttt ttgttaaaat tcatatgtaa tgttgttttg gttggggggg
     9901 gtggccaaac cacctgttaa taatacacat tgtgtttgtg cactggttca ggggaggaga
     9961 gaggaaagga agtgtaagag ctctatgcca atgtgcttat agtgaggcaa ggttaaccat
    10021 tgtctcatgc ctgggcattt tgttttactt atctgggtat attgtggatc taaaggacaa
    10081 atgagtcctg actttacatc tagtctttct agatgttaaa gaggttgcta gtgtatgaca
    10141 aaagtagtta gtaaactaat atattttgta catttcgttt taagattccc aggaaagaca
    10201 gtcttctgaa aatttgagca ttattgccca gtgggttgat ggagatggga aggtgtaggc
    10261 cagaatgttc atacttggaa gactcagtca taactgtttt tacatgtgtt cactttattc
    10321 aagacttctg tgcatatagt ggacgaatta acttcttacc tgaaacatct tatctatgta
    10381 gatgttcaga attgcctgat gtatgttaag tgtagaggta gtaaaatatc accttgtaaa
    10441 tatctttttg ctaaaattct tgggaagtac tgtcttttgg aagtggaatt gtgaagccac
    10501 ctctgtaagc agtatagtac tgtctatact tgttcaatgg tttagaaatg ggagggaaga
    10561 aattgccaaa ggtaatatgc tagtgtgttc atacttggac atttcacttg ccatttttct
    10621 gtctgttttg tgcattttgt tttgctgtgt atgtagagta cataatggac aaatgagtcc
    10681 taattttgca acatttggtc tctagatgtt taagaagttg ccagtgtatg acaaagtatc
    10741 tagtaaaatt agcacatttt gcacactttg tattgaaatt cataggaaag cttgtcttct
    10801 gtaaatgatt tttgggtatg aatttgttca gccatctcta agcgttacac atgcctgtac
    10861 ctgtccactg gattgaagac agagagaagg gagtgaggaa ggactggttc aaggtcaaaa
    10921 ttgtcatatt tagaagatac ctccgattat agccactgat acatgtgcaa ttttatttta
    10981 cagtgctatg tacacagtgg aaagttatat gaaatatctg gtctctctag atagttagaa
    11041 atgcttgatg tatttaaaag tagaaatagt ataataacac tttttgtaaa tagcttttaa
    11101 aaactgatgg gaaatactgt gtttgcaagt gggattgtta aatcacctct gtgaacagtg
    11161 ttacttgttc attcagttga ggaaggtgag agggaagaaa ttacaaaaga tgttttgcta
    11221 ttgtgtacta gaaaatttca gtttatccat tgccttatat gttaaatgca ttgcaagtaa
    11281 ctttgctata ctacatattg tgttatatac tggaaaaatg agtcctaatt ttaaaatatc
    11341 cactctctag atactaaaga ggttgccaat gtatgacaaa aatagtaaag taacacattt
    11401 tgtacacttt gtgttaacgt ttataaaaag actatcttct gaaaacgact tttggaagtg
    11461 aaatgataac atcaacccta agtgacacat gggcccatat ccaccaggtt ggtggtgcag
    11521 aggagctgga agaaatgaag gattctagat cagaatattc ctatttagaa gacagtttaa
    11581 gataaaccat gtgtgtagtt tattcaaccc tactgatgca agagaatagg gtctggaggc
    11641 aggaaacata aagcagattc atgcagactt cctagaaata aatgaaatgg aaacacatca
    11701 gctatgacag gacatatact ctccaacaga gtaaatgact ttgtaacttt atttcatcct
    11761 ctccatttac atagggcgta catcaagtaa atgactaggg tgtatactaa gtaaatgact
    11821 ttgtaacttt atttcatcct cttcatttac ataaggcata taccaagtaa ccaatggaaa
    11881 ccttgagagg gtatttaaac ccgagaaaat tctgtaactg ggctcttgag cccctaagca
    11941 caggccttct cccaccctgt ggagcgtact ttcatttcat aaatctctgc ttttgttgtt
    12001 tcattctttc cttgctttgt gtgttttgtc caattcttgg ttcaatatgc ccagaacctg
    12061 gacaccctcc actggtaaca tattttggca aggcagccag gaggtaagcc caaagtttgg
    12121 gatttttcat cttttctttt ccactccata caggggaatc tctccctctg tctctttttc
    12181 ctttccaact cgggaccctt ggtgggcagc gcctaaacac ggaggcaacc gcaggtttct
    12241 gggtggggcc atcctgaagg acttttttct atcttttctg gttgtggtcc ctgattccta
    12301 tgtgtggcgc agctcagggc aaacttgcag ctcagggtga acttgcatgt gtttcaggcg
    12361 acggaaaccc tacttgactg gctaaggaca aaagaagcct actcagcttc catttcctat
    12421 cattacagtt catggctatc atgctagtgg aacaggaagc atgggataat gtggccttat
    12481 caaattataa ggatgctaaa cgccagtgat tacacccagg aaccaaagga cagctcacaa
    12541 ttgcctctgg agggaaaata tgcaaagcgg cactggtgcc cacgtaaggt cagagatgcc
    12601 tgacactctt aagactggac cccaaagggg gattccccag gggatcctcc agacttcaac
    12661 ctctccaaag gggatgccct tggcagcagt tctaaggact agtactaagc cctccttaga
    12721 attttctctt gcagttgcaa tactgtttgg ccccaatatg gtttggattc tggcatttgc
    12781 tgttgaatgg gaaagcggga tgcagttgca tgtatccagg ctttggtgct gctgttctaa
    12841 gcaggggcag gcctagttat tatgtgatgt tctcctttgg tgctgtttga ccccagtgtt
    12901 ctttcgagtc tggggaggtt tggcctttaa aaatcaaact gccatggaaa ttgctttacc
    12961 tgaaataata gttcacagcc ttcattggat tgcttattgg gtacacaaag taaaattggc
    13021 aagcttgtat tgctatctca tggttagggt tccaaggtaa aagctattga atcttcattt
    13081 gtgtgtgtgt atacacatgt ctagatgtgt ttatttgcac atttgttata tgttgtgttt
    13141 tggcatataa gtaaaagagc actcataaat taagtaaata agtcgaagca attttcaagt
    13201 tcacatgact taagtataac tttcctaaac aggctagttt taaaattatt ggtgaagtaa
    13261 aaatagaaat gccttcagaa ttgtcagcat atatttttgt ctgggtttta tatttgtctc
    13321 tgctagatat tttgaggtgt tagggtttgg catagaaggt tataaaacta taaacccagc
    13381 caaaacaaaa cgatctcgtt tgcgtttttt tttttttttt tttttttttt tttgacaaat
    13441 gagcataatt taatgttagc taaatcttct gggttactgg caaaaatacg tatgtattaa
    13501 ctttgaggct cttacttagg tttaagtgca cacctggcta ttcaaaatgt ggttaacagg
    13561 gaaataactg actttaaaag atagtgtcta acatttcggt ttacagaggt aatctagata
    13621 aactgttaaa agtgaaacaa ttgagtacag tgaatgggac aaatgtttta gataagcttt
    13681 ttgtgtaaag tcttaaaatc atttttgatg ctcatttaag atctgggcca tttccaatta
    13741 gaaaggttgt gatatgggga aatatgtttc taaaattgtg gaattgttct taactataaa
    13801 ttcccatatc tgatagttca ggatttctag ctttttagcg tttcactaaa gttttaggtt
    13861 actaaggata agaattctag ttaacacata attctgtata caaaacatgc cagaaagttt
    13921 gtgttattag tgagaaaaag aataatttag aagttatcta aaagttagtt caaattacag
    13981 atttgaaaag gttacttatg aaacaatgta gtaaggaacc agtaagtaga ggagaacgat
    14041 atggaaaaag tttagataat aaaatattct ttaaaacctg atagagaatt ggagatattt
    14101 ggctaattaa cattttcata gtgaaagctg ttagtcttga taaaagtaaa ataagcattg
    14161 taaagaaatg catcggcagt ttggcaattc ctttttacta tagttaagca tgaagccgga
    14221 tttggtgtgg agccaaattt cacatacatg cttgcattgc ttcacactgt ttactgtttt
    14281 gtgtggatag tgctggcact ggagtactta ttggttatgt gcctatagtg tatttcttga
    14341 ttgcacagga tgtatggtga tattggtgaa cttaaggata ctgaattgtg tatcaggaac
    14401 aaaatattca ttatgtgggt tttggggggc cctaggtaaa cactgtagcc tccagggtag
    14461 attgagaagg aaaaatttag ggttgggttc ctatttgttt ttgcttctaa ttttcatttg
    14521 tttgccattt attctcctct ggctttgctt gtgtatgcac atataaaatc atatatattt
    14581 tttttaaatt tctagtggaa ggcttttatt tggttctgtg aatagttatt ttgttcccta
    14641 tgcatttcta gcaagtcatc atttgttcca tttatctgga attcctaggc tacctttgtc
    14701 aggctggcag gaattgatgg agcacaccag ctttttaacc ttgaactaac tcaaattctg
    14761 tttatgatac tttaagtgtg ttgagtatat tttcataaac agaatttgag tcatatttct
    14821 ctgtctgccc attttctcca aaattcgtaa actatttgtg aatattctta attcatggca
    14881 atgtgtttgt ttgcatatag tcaagcaggg ttcctagggc tgctttggga gacagaaccc
    14941 agaaacctgg catactggca aaagggtaag aatttcttac cagccagact ctggtctctg
    15001 tctctctgtg caaactgcat aaatgaatag taaaagtcac tgtttatctc ctctgtaaag
    15061 ttttgattaa tataaaaaaa gaattctgag gccgatctta agctgtagtg aatctggtgt
    15121 gctttgtgtc tttctgtatt gttttgtcat aaagaggggt accttagaat aaaatgtgtg
    15181 cttaggaccc catagacctg ctgttcaaga cacaccagca gactggtcag tcatgtcttt
    15241 gggagcttga ccttgtaacc atgtggccat gctttctctt ttcacagtgg cagcctgggt
    15301 ttagggttca attcctggct tagggaatga gtcctttatc ttctgtctgt gtatttatat
    15361 gtgttgtgtg tgtactataa aagagcatta attaattagc ttaataataa taagagctta
    15421 aatcaaatat tttatcagaa aagtaaaaaa tgtaatgcct tctatttact tcatgtaact
    15481 taagtaatct ttgggaaata aagacagttt taaagattat tggtaaaata aaaatatctt
    15541 caaaatgtaa atatttagtc taaattatgc aggtcagata ttagatttgc aaaatgcttt
    15601 aaggtcataa accgcttctt tgacttttaa aaattgctca atttattttg gagcattaga
    15661 ttctagataa ggcctgggga caaatagaat tagccatgtc ccctagctat gcaaagaagg
    15721 ttataaagaa aggagatttt atataagaaa ggatcttata tcgtaaattc gtgtcctaaa
    15781 gtaaaataag cggttgttaa aaaagaggga tgtttaggac aagttagaaa gtcaaagcat
    15841 gtcgtagatg gtctgtgtaa gtcatgaaat aatttacaaa agagaattta tgcaagaaat
    15901 atacaattta acggtgatta gacctcctaa atgcttcata aaatgccact atgactctta
    15961 actctacaac ttgcctgctt tacagctcgg taaggcctga gacacgtgga gtcagatgct
    16021 ggagtcagac cttaagtgta cttctctctg ggtcctagac tccacaacta atatataatt
    16081 aaaatcctta acttaccaaa gttttcacca aaagtaaaac tcgctaagag ttaacattgt
    16141 aacatgtaag tgagactact gaagcaacag ttttacatgc aagttacgta agaaaagtga
    16201 atgcattttc agtgaaagat tataacaagg catgggaatg tagatttttt tttctgtcta
    16261 aagggttaaa ggattgtttt aagttaggat aaagctaaaa gtttgaatga gttgtggaag
    16321 atttataaaa attaatattg taaaaaatta tgtgtgtgaa catattgact aaatttaaag
    16381 gggtattttc tggtttttcc ataaattgaa catcaaaata aaagcacaaa cagggttttc
    16441 ttaaagcacc gatctgctct ttaacaaaca tttgtaaagg attataaaag gtttatgaga
    16501 atctcacctt atggtcaaac ggattaagat tggaaagata tgtctacaag gttttcttaa
    16561 aaattggggt tgacattaat agcacactaa tgcaagggtg aaatttggct ttctctcttg
    16621 aacaagattt tcatgcagta ttaaaagata atgaaagatc tttgtttgcc ttttgaataa
    16681 actacccccc caccaaaaaa aaggaaggga aagacaagag acagattgtt tgtaaagtaa
    16741 gtcttccatc tatcaacatg gaaaggtttt tgccttttaa aacatttttg agtcatcatt
    16801 ttgctaaatg aatgactatg gtaacctgga attccatttc ataatgtcaa gtgttttaaa
    16861 tctttaacat atttaatagg cttcccaaaa tcaaatttca gcttcaaaat tgtcttttct
    16921 aacctctaac tttgagatgc tgcagagggc ccctgaagca tccaaaagag aggtaaacag
    16981 aattatttga catgtttaat tacatgggaa gcattgtcaa aaagaaaaaa atttaatctt
    17041 cttcaggtta tattttagtg aataatatta atatatgttc caaaattgta tgagatttct
    17101 aaaattccaa tatgtctgag tatatgctat caatcataat tatgattatt atgttattgt
    17161 agaccacaga aataaccaaa tttccttgtc aattgtgttt ttaactataa ctatttaaag
    17221 tcatttccac agttaattgc ttaatgctga tgcagtttct gaaaacttca caagcatgca
    17281 aagtcctaga atatggtgtc ttttaggaga ttcatgaaag attggaaagg accctaaaaa
    17341 gcactcttga atacaggttt ctaataagtt tagaattata tcatttgaac tgggtaagaa
    17401 ttcctggaac tttaatgaaa agactgactg agttctaaaa ctgctaaccc aagtagaaca
    17461 aaaattaatt aaataccaag aaaatacttt gccagatttt catgctaaat cagctgatac
    17521 tgaaactgtt tagatataaa atttgaataa actccatcat ttaaatcaaa ttacctatga
    17581 taacccatca gttatcagtg ttatgcacct aatttgggga aacaactggt attcaagagg
    17641 atatgagtct aatgttaatt aagcatgaac tcatggagaa ccaggatggc caccttgtcc
    17701 ttcctaagtc gttaaagctt ttgttagtaa aatttctgca ttacatgact cgtcacggaa
    17761 aagataaaat gatccaaatt gaatatattg atgtggtgac ttataaattg ctaaaatagt
    17821 ttataaccaa tgtttggtcc catattcctg ggaaaacaat caaagcttca ggtacatcca
    17881 gtcacctgat aggccattta aacattttat agagggattt tattcaattg ttattttcag
    17941 tgcatgtttt ctggttgtat aaaagctttc ccatgcaaga gggctgatgt tataacacta
    18001 agttattatg ccaccaagta ttttcacaag gtaaagaaag ctttttatgg ttcactgagg
    18061 acaatcaact ccttcacaac ctagaaactg aagattgtat cttctgaaaa cattggataa
    18121 agactgtcct tgccatccac actacagcaa aacttctgga ctttgaactt tgggttcatg
    18181 atctcacaac tgagaagagt ccctccacac tcttggaact gtacacccat tggaaccctt
    18241 aaggtaaagc taaccaggga agtttctctc ccgaagaaga tggcatcctt gatgtgaaca
    18301 gcttttccca agatcatgaa tcaagacttc tctattatca tgagactctt atctttgaat
    18361 attttttcct tgcttttgcc tctatgaaga atagaagtgg aaaaaggatc tgttgtgtac
    18421 aattatgggt tatactttta tttgtgaaga attttgcagc cagctttagg tcctttttcc
    18481 atgatttgga ataaaagagg caaatgtatc cctcataata ggctccatag cagtttactg
    18541 taaaggctat ggttacataa tagactaaat tatcttaaga aagttatgct aaataataga
    18601 gttggctaaa cagaagagta tctgtgcagc tgctggcact catggcctat ggagaaaaca
    18661 tcaggtatta tagagattca gttgtagcaa attaatgaag agactgctta gttaagtgag
    18721 tagactcttt agctcattgt ttaatctatt tgagtttagg aggtttggtt tatggtgacc
    18781 ctggataagg agcatactta ctctcaactc ttggtattat cctcctgata gtcataataa
    18841 tagtctccct ggtgtgctgt attctctcaa cggttttaaa tgtttgcatg ctgccacctc
    18901 tagaatgtca aatggcctct cttcaactgg aatgacaaga gctgaaagaa attgcagcca
    18961 tgaggacact gtaacctacg aatgatgtgc tgagtccaaa agcccaaagt gttggtaact
    19021 gagagtggtg ctaagtaagg ccctaagttt tggtcacact ctcacttaag tgagaacctg
    19081 accaaaaaag tggaattttt tttttttttt ttttttttga gatggagtct cactctgtca
    19141 cccgggctgg agtgcagtgg cacgatctcg gctcactgca agctccactt cccgggttca
    19201 cgccattttt ctgtctcagc ctcccgagta gctgggacta caggcacctg ccaccacgcc
    19261 cggctaattt ttttgtattt ttagtggaga cggggtttca ccatgttagc caggatggtc
    19321 tcgatctcct aacctcatga tctgcccacc tcggcctccc aaagtgctgg gataacaggc
    19381 gtgagccact gcacctggcc aaaaagggga atttttttta aacaaaatta tgggaggtca
    19441 tttttttgta ctgagcccat gcgccaggcc ccaacagacc aaactaaacc aaaacggagt
    19501 cacgtatgcc aagaccttaa ggaaacacat agatcctaga acagaccaca ggccaggttt
    19561 tgtttttctc ctacaaatct ctataacaaa cattcctgac agcatagata tccaccccct
    19621 gagttcccat taaatctttt aaccaaatta atttcctctc gccaaaagac catcaagctt
    19681 cagatgatca tgcaacaaaa gtttcatcca gttccaccac ccctggccat caaggagcta
    19741 ccctgccttc actagaaaga gcagagcagg acttctgtga tcctcaatag gtagggacta
    19801 ggcctcaagc caacatgaag cagttacaaa agaaagacca tcggcccctc cacctcccat
    19861 aaagatttat ggggatccca tctctggagg gaaatgaggc agaagaatag ggtctgtagg
    19921 caaggaatat aaggcagatg catgctcact tcctagaact aaatcaaatg gaaacacttc
    19981 agctatgatg ggaaatgtct tctgtattta catagggcat acactgagta accaatggaa
    20041 acctctagag ggtatttaaa ccccagaaaa ttctgtaacc gggctattga gcccctatgc
    20101 tcaagccctc tgccaccctg tggagtgtac ttttgttttc aataaacctc tgcttttgtt
    20161 gcttca
//
LOCUS       NM_001064               2996 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens transketolase (TKT), transcript variant 1, mRNA.
ACCESSION   NM_001064
VERSION     NM_001064.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2996)
  AUTHORS   Li M, Zhao X, Yong H, Xu J, Qu P, Qiao S, Hou P, Li Z, Chu S, Zheng
            J and Bai J.
  TITLE     Transketolase promotes colorectal cancer metastasis through
            regulating AKT phosphorylation
  JOURNAL   Cell Death Dis 13 (2), 99 (2022)
   PUBMED   35110545
  REMARK    GeneRIF: Transketolase promotes colorectal cancer metastasis through
            regulating AKT phosphorylation. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2996)
  AUTHORS   Nauton L, Hecquet L and Thery V.
  TITLE     QM/MM Study of Human Transketolase: Thiamine Diphosphate Activation
            Mechanism and Complete Catalytic Cycle
  JOURNAL   J Chem Inf Model 61 (7), 3502-3515 (2021)
   PUBMED   34161071
  REMARK    GeneRIF: QM/MM Study of Human Transketolase: Thiamine Diphosphate
            Activation Mechanism and Complete Catalytic Cycle.
REFERENCE   3  (bases 1 to 2996)
  AUTHORS   Shayota BJ, Donti TR, Xiao J, Gijavanekar C, Kennedy AD, Hubert L,
            Rodan L, Vanderpluym C, Nowak C, Bjornsson HT, Ganetzky R, Berry GT,
            Pappan KL, Sutton VR, Sun Q and Elsea SH.
  TITLE     Untargeted metabolomics as an unbiased approach to the diagnosis of
            inborn errors of metabolism of the non-oxidative branch of the
            pentose phosphate pathway
  JOURNAL   Mol Genet Metab 131 (1-2), 147-154 (2020)
   PUBMED   32828637
  REMARK    GeneRIF: Untargeted metabolomics as an unbiased approach to the
            diagnosis of inborn errors of metabolism of the non-oxidative branch
            of the pentose phosphate pathway.
REFERENCE   4  (bases 1 to 2996)
  AUTHORS   Mitschke L, Parthier C, Schroder-Tittmann K, Coy J, Ludtke S and
            Tittmann K.
  TITLE     The crystal structure of human transketolase and new insights into
            its mode of action
  JOURNAL   J Biol Chem 285 (41), 31559-31570 (2010)
   PUBMED   20667822
  REMARK    GeneRIF: The crystal structure of human transketolase and new
            insights into its mode of action.
REFERENCE   5  (bases 1 to 2996)
  AUTHORS   Sax CM, Salamon C, Kays WT, Guo J, Yu FX, Cuthbertson RA and
            Piatigorsky J.
  TITLE     Transketolase is a major protein in the mouse cornea
  JOURNAL   J Biol Chem 271 (52), 33568-33574 (1996)
   PUBMED   8969223
REFERENCE   6  (bases 1 to 2996)
  AUTHORS   Usmanov RA, Sidorova NN and Kochetov GA.
  TITLE     Interaction of dihydroxyethylthiamine pyrophosphate with
            transketolase
  JOURNAL   Biochem Mol Biol Int 38 (2), 307-314 (1996)
   PUBMED   8850526
REFERENCE   7  (bases 1 to 2996)
  AUTHORS   McCool BA, Plonk SG, Martin PR and Singleton CK.
  TITLE     Cloning of human transketolase cDNAs and comparison of the
            nucleotide sequence of the coding region in Wernicke-Korsakoff and
            non-Wernicke-Korsakoff individuals
  JOURNAL   J Biol Chem 268 (2), 1397-1404 (1993)
   PUBMED   8419340
REFERENCE   8  (bases 1 to 2996)
  AUTHORS   Abedinia M, Layfield R, Jones SM, Nixon PF and Mattick JS.
  TITLE     Nucleotide and predicted amino acid sequence of a cDNA clone
            encoding part of human transketolase
  JOURNAL   Biochem Biophys Res Commun 183 (3), 1159-1166 (1992)
   PUBMED   1567394
REFERENCE   9  (bases 1 to 2996)
  AUTHORS   Lapsys NM, Layfield R, Baker E, Callen DF, Sutherland GR, Abedinia
            M, Nixon PF and Mattick JS.
  TITLE     Chromosomal location of the human transketolase gene
  JOURNAL   Cytogenet Cell Genet 61 (4), 274-275 (1992)
   PUBMED   1486804
REFERENCE   10  (bases 1 to 2996)
  AUTHORS   Mocali A and Paoletti F.
  TITLE     Transketolase from human leukocytes. Isolation, properties and
            induction of polyclonal antibodies
  JOURNAL   Eur J Biochem 180 (1), 213-219 (1989)
   PUBMED   2495942
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK223614.1, SRR3476690.321727.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2154529
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000462138.6/ ENSP00000417773.1
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB503248.1, BC009970.2,
            L12711.1, BC024026.2, CA421169.1 and AC097015.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001064.3.
            Summary: This gene encodes a thiamine-dependent enzyme which plays
            a role in the channeling of excess sugar phosphates to glycolysis
            in the pentose phosphate pathway. Alternatively spliced transcript
            variants encoding multiple isoforms have been observed for this
            gene. [provided by RefSeq, Apr 2012].
            Transcript Variant: This variant (1) differs in the 3' UTR,
            compared to variant 2. Variants 1 and 2 encode the same isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2996
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.1"
     gene            1..2996
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="transketolase"
                     /db_xref="GeneID:7086"
                     /db_xref="HGNC:HGNC:11834"
                     /db_xref="MIM:606781"
     CDS             81..1952
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /EC_number="2.2.1.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     epididymis luminal protein 107; epididymis secretory
                     protein Li 48"
                     /codon_start=1
                     /product="transketolase isoform 1"
                     /protein_id="NP_001055.1"
                     /db_xref="CCDS:CCDS2871.1"
                     /db_xref="GeneID:7086"
                     /db_xref="HGNC:HGNC:11834"
                     /db_xref="MIM:606781"
                     /translation="MESYHKPDQQKLQALKDTANRLRISSIQATTAAGSGHPTSCCSAA
                     EIMAVLFFHTMRYKSQDPRNPHNDRFVLSKGHAAPILYAVWAEAGFLAEAELLNLRKIS
                     SDLDGHPVPKQAFTDVATGSLGQGLGAACGMAYTGKYFDKASYRVYCLLGDGELSEGSV
                     WEAMAFASIYKLDNLVAILDINRLGQSDPAPLQHQMDIYQKRCEAFGWHAIIVDGHSVE
                     ELCKAFGQAKHQPTAIIAKTFKGRGITGVEDKESWHGKPLPKNMAEQIIQEIYSQIQSK
                     KKILATPPQEDAPSVDIANIRMPSLPSYKVGDKIATRKAYGQALAKLGHASDRIIALDG
                     DTKNSTFSEIFKKEHPDRFIECYIAEQNMVSIAVGCATRNRTVPFCSTFAAFFTRAFDQ
                     IRMAAISESNINLCGSHCGVSIGEDGPSQMALEDLAMFRSVPTSTVFYPSDGVATEKAV
                     ELAANTKGICFIRTSRPENAIIYNNNEDFQVGQAKVVLKSKDDQVTVIGAGVTLHEALA
                     AAELLKKEKINIRVLDPFTIKPLDRKLILDSARATKGRILTVEDHYYEGGIGEAVSSAV
                     VGEPGITVTHLAVNRVPRSGKPAELLKMFGIDRDAIAQAVRGLITKA"
     misc_feature    81..83
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P29401.3); acetylation site"
     misc_feature    87..89
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P29401.3); phosphorylation site"
     misc_feature    96..98
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P29401.3); acetylation site"
     misc_feature    111..113
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P29401.3); acetylation site"
     misc_feature    189..191
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="Important for catalytic activity.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P29401.3); other site"
     misc_feature    390..392
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P29401.3); phosphorylation site"
     misc_feature    510..512
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P29401.3); acetylation site"
     misc_feature    690..692
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P29401.3); acetylation site"
     misc_feature    774..776
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P40142; propagated from
                     UniProtKB/Swiss-Prot (P29401.3); acetylation site"
     misc_feature    801..803
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P29401.3); acetylation site"
     misc_feature    852..854
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="Important for catalytic activity.
                     /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot
                     (P29401.3); other site"
     misc_feature    858..860
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P29401.3); acetylation site"
     misc_feature    903..905
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P29401.3); phosphorylation site"
     misc_feature    939..941
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P29401.3);
                     phosphorylation site"
     misc_feature    963..965
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P29401.3);
                     phosphorylation site"
     misc_feature    1113..1115
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P50137; propagated from
                     UniProtKB/Swiss-Prot (P29401.3); phosphorylation site"
     misc_feature    1692..1694
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:P40142; propagated from
                     UniProtKB/Swiss-Prot (P29401.3); acetylation site"
     misc_feature    1887..1889
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P29401.3); acetylation site"
     regulatory      2037..2042
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="hexamer: AATATA"
     polyA_site      2060
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="major polyA site"
     regulatory      2977..2982
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
                     /note="hexamer: AATAAA"
     polyA_site      2996
                     /gene="TKT"
                     /gene_synonym="HEL-S-48; HEL107; SDDHD; TK; TKT1"
ORIGIN
        1 ctcggcagcc gcctgtcgcc gcgggagcag ccgctatctc tgtgtgtccg cgtgtgcgcc
       61 cggtccccgc ctgccgcacc atggagagct accacaagcc tgaccagcag aagctgcagg
      121 ccttgaagga cacggccaac cgcctacgta tcagctccat ccaggccacc actgcggcgg
      181 gctctggcca ccccacgtca tgctgcagcg ccgcagagat catggctgtc ctctttttcc
      241 acaccatgcg ctacaagtcc caggaccccc ggaatccgca caatgaccgc tttgtgctct
      301 ccaagggcca tgcagctccc atcctctacg cggtctgggc tgaagctggt ttcctggccg
      361 aggcggagct gctgaacctg aggaagatca gctccgactt ggacgggcac ccggtcccga
      421 aacaagcttt caccgacgtg gccactggct ccctgggcca gggcctcggg gccgcttgtg
      481 ggatggccta caccggcaaa tacttcgaca aggccagcta ccgagtctat tgcttgctgg
      541 gagacgggga gctgtcagag ggctctgtat gggaggccat ggccttcgcc agcatctata
      601 agctggacaa ccttgtggcc attctagaca tcaatcgcct gggccagagt gacccggccc
      661 cactgcagca ccagatggac atctaccaga agcggtgcga ggccttcggt tggcatgcca
      721 tcatcgtgga tggacacagc gtggaggagc tgtgcaaggc ctttggccag gccaagcacc
      781 agccaacagc catcattgcc aagaccttca agggccgagg gatcacgggg gtagaagata
      841 aggagtcttg gcatgggaag cccctcccca aaaacatggc tgagcagatc atccaggaga
      901 tctacagcca gatccagagc aaaaagaaga tcctggcaac ccctccacag gaggacgcac
      961 cctcagtgga cattgccaac atccgcatgc ccagcctgcc cagctacaaa gttggggaca
     1021 agatagccac ccgcaaggcc tacgggcagg cactggccaa gctgggccat gccagtgacc
     1081 gcatcatcgc cctggatggg gacaccaaaa attccacctt ctcggagatc ttcaaaaagg
     1141 agcacccgga ccgcttcatc gagtgctaca ttgctgagca gaacatggtg agcatcgcgg
     1201 tgggctgtgc cacccgcaac aggacggtgc ccttctgcag cacttttgca gccttcttca
     1261 cgcgggcctt tgaccagatt cgcatggccg ccatctccga gagcaacatc aacctctgcg
     1321 gctcccactg cggcgtttcc atcggggaag acgggccctc ccagatggcc ctagaagatc
     1381 tggctatgtt tcggtcagtc cccacatcaa ctgtctttta cccaagtgat ggcgttgcta
     1441 cagagaaggc agtggaacta gccgccaata caaagggtat ctgcttcatc cggaccagcc
     1501 gcccagaaaa tgccatcatc tataacaaca atgaggactt ccaggtcgga caagccaagg
     1561 tggtcctgaa gagcaaggat gaccaggtga ccgttatcgg ggctggggtg accctgcacg
     1621 aggccttggc cgctgccgaa ctgctgaaga aagaaaagat caacatccgc gtgctggacc
     1681 ccttcaccat caagcccctg gacagaaaac tcattctcga cagcgctcgt gccaccaagg
     1741 gcaggatcct caccgtggag gaccattatt atgaaggtgg cattggtgag gctgtgtcca
     1801 gtgcagtagt gggcgagcct ggcatcactg tcacccacct ggcagttaac cgggtaccaa
     1861 gaagtgggaa gccggctgag ctgctgaaga tgtttggtat cgacagggat gccattgcac
     1921 aagctgtgag gggcctcatc accaaggcct agggcgggta tgaagtgtgg ggcgggggtc
     1981 tatacattcc tgagattctg ggaaaggtgc tcaaagatgt actgagagga ggggtaaata
     2041 tatgttttga gaaaaatgaa ttggccctga aatgttttct tttttgatgt gtttgcagcc
     2101 agtgcaggtt ctggggaaga agcgtggagg gtgcgctagg gaggctggtg tccttggtcc
     2161 tgggccagga cctgggtgtc ccaagtcccc ttggaatcac ctgcaactgc cctcaacctc
     2221 cagaactatc gctgcctccc attcatcacc aggtgacatt tgactgcaac ctgccttcta
     2281 gctgagaggc tgagacctac atccctcatt gtgacctcag tccacctggc cctgagcggg
     2341 ctggggaact gcctcagtct ggaagctgac caggcactct cagggccgcc ccacctcccc
     2401 caagtcccca cagccttgca gtcaggtctc ctgggatagg gaggttcact tgcttgttgt
     2461 ccctcgtcct tgtcatatcc ttttaactag gcatctcaga gaagcagaga cagggcagcc
     2521 ttcgtcctgg gggaaaaggg accctcagga tggcatgaga ggtcctcaat cccaagtgtg
     2581 gaactgtccc cctcaacttg ttaaaatgca gatttctggg tcttgccaat ggggcctggg
     2641 actccatgtg acaactggcc caggagcttc tgatgtcaca cagaattctg cagtcccaag
     2701 ctccagcccc gacctgctct gctgttccta ggtgactgcc ctcacactgc tgaccacagt
     2761 ggatttctcc ccctgctgct cgggctcagc tggggtcagc cctgcttata aggtcaactg
     2821 tgcaaaacct tatactggcc aagaacaaac tagtgctggg ggaggagggc tgggtgcccc
     2881 ggccactggt ggagtcccca ggaaatcctc agagctgttg cgaggatgag acacatttgt
     2941 ggacacgtcc acctgtcctc ctgaccgtct ggagagaata aacctgtcaa agccaa
//
LOCUS       NM_001065               2171 bp    mRNA    linear   PRI 17-APR-2023
DEFINITION  Homo sapiens TNF receptor superfamily member 1A (TNFRSF1A),
            transcript variant 1, mRNA.
ACCESSION   NM_001065
VERSION     NM_001065.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2171)
  AUTHORS   Giudici KV, de Souto Barreto P, Guyonnet S, Morley JE, Nguyen AD,
            Aggarwal G, Parini A, Li Y, Bateman RJ and Vellas B.
  CONSRTM   MAPT/DSA Group
  TITLE     TNFR-1 and GDF-15 Are Associated With Plasma Neurofilament Light
            Chain and Progranulin Among Community-Dwelling Older Adults: A
            Secondary Analysis of the MAPT Study
  JOURNAL   J Gerontol A Biol Sci Med Sci 78 (4), 569-578 (2023)
   PUBMED   36508390
  REMARK    GeneRIF: TNFR-1 and GDF-15 Are Associated With Plasma Neurofilament
            Light Chain and Progranulin Among Community-Dwelling Older Adults: A
            Secondary Analysis of the MAPT Study.
REFERENCE   2  (bases 1 to 2171)
  AUTHORS   Gui XY and Rabkin SW.
  TITLE     C-Reactive Protein, Interleukin-6, Trimethylamine-N-Oxide,
            Syndecan-1, Nitric Oxide, and Tumor Necrosis Factor Receptor-1 in
            Heart Failure with Preserved Versus Reduced Ejection Fraction: a
            Meta-Analysis
  JOURNAL   Curr Heart Fail Rep 20 (1), 1-11 (2023)
   PUBMED   36479675
  REMARK    GeneRIF: C-Reactive Protein, Interleukin-6, Trimethylamine-N-Oxide,
            Syndecan-1, Nitric Oxide, and Tumor Necrosis Factor Receptor-1 in
            Heart Failure with Preserved Versus Reduced Ejection Fraction: a
            Meta-Analysis. Review article
REFERENCE   3  (bases 1 to 2171)
  AUTHORS   Acuna K, Choudhary A, Locatelli E, Rodriguez DA, Martin ER, Levitt
            RC and Galor A.
  TITLE     Impact of Tumor Necrosis Factor Receptor 1 (TNFR1) Polymorphism on
            Dry Eye Disease
  JOURNAL   Biomolecules 13 (2), 262 (2023)
   PUBMED   36830631
  REMARK    GeneRIF: Impact of Tumor Necrosis Factor Receptor 1 (TNFR1)
            Polymorphism on Dry Eye Disease. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2171)
  AUTHORS   Alshevskaya A, Lopatnikova J, Zhukova J, Chumasova O, Shkaruba N,
            Sizikov A, Evsegneeva I, Demina D, Nepomniashchikch V, Karaulov A
            and Sennikov S.
  TITLE     The Influence of Severity and Disease Duration on TNF Receptors'
            Redistribution in Asthma and Rheumatoid Arthritis
  JOURNAL   Cells 12 (1), 5 (2022)
   PUBMED   36611799
  REMARK    GeneRIF: The Influence of Severity and Disease Duration on TNF
            Receptors' Redistribution in Asthma and Rheumatoid Arthritis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2171)
  AUTHORS   McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW,
            Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy
            J, Frucht DM, Aringer M, Torosyan Y, Teppo AM, Wilson M, Karaarslan
            HM, Wan Y, Todd I, Wood G, Schlimgen R, Kumarajeewa TR, Cooper SM,
            Vella JP, Amos CI, Mulley J, Quane KA, Molloy MG, Ranki A, Powell
            RJ, Hitman GA, O'Shea JJ and Kastner DL.
  TITLE     Germline mutations in the extracellular domains of the 55 kDa TNF
            receptor, TNFR1, define a family of dominantly inherited
            autoinflammatory syndromes
  JOURNAL   Cell 97 (1), 133-144 (1999)
   PUBMED   10199409
REFERENCE   6  (bases 1 to 2171)
  AUTHORS   Deuitch,N., Cudrici,C., Ombrello,A. and Aksentijevich,I.
  TITLE     TNF Receptor-Associated Periodic Fever Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   36375008
REFERENCE   7  (bases 1 to 2171)
  AUTHORS   Zhang XM, Weber I and Chen MJ.
  TITLE     Site-directed mutational analysis of human tumor necrosis
            factor-alpha receptor binding site and structure-functional
            relationship
  JOURNAL   J Biol Chem 267 (33), 24069-24075 (1992)
   PUBMED   1331108
REFERENCE   8  (bases 1 to 2171)
  AUTHORS   Fuchs P, Strehl S, Dworzak M, Himmler A and Ambros PF.
  TITLE     Structure of the human TNF receptor 1 (p60) gene (TNFR1) and
            localization to chromosome 12p13 [corrected]
  JOURNAL   Genomics 13 (1), 219-224 (1992)
   PUBMED   1315717
  REMARK    Erratum:[Genomics 1992 Aug;13(4):1384]
REFERENCE   9  (bases 1 to 2171)
  AUTHORS   Derre J, Kemper O, Cherif D, Nophar Y, Berger R and Wallach D.
  TITLE     The gene for the type 1 tumor necrosis factor receptor (TNF-R1) is
            localized on band 12p13
  JOURNAL   Hum Genet 87 (2), 231-233 (1991)
   PUBMED   1648547
REFERENCE   10  (bases 1 to 2171)
  AUTHORS   Belokrylov,G.A. and Zhitnukhin,Iu.L.
  TITLE     [Effect of antibodies to rat and human cerebral cortex and white
            matter on heterologous T- and B-cells]
  JOURNAL   Zh Mikrobiol Epidemiol Immunobiol (9), 66-70 (1976)
   PUBMED   1087798
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M58286.1, M63121.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000162749.7/ ENSP00000162749.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315509.1, M63121.1 and
            BC010140.2.
            On Aug 31, 2019 this sequence version replaced NM_001065.3.
            Summary: This gene encodes a member of the TNF receptor superfamily
            of proteins. The encoded receptor is found in membrane-bound and
            soluble forms that interact with membrane-bound and soluble forms,
            respectively, of its ligand, tumor necrosis factor alpha. Binding
            of membrane-bound tumor necrosis factor alpha to the membrane-bound
            receptor induces receptor trimerization and activation, which plays
            a role in cell survival, apoptosis, and inflammation. Proteolytic
            processing of the encoded receptor results in release of the
            soluble form of the receptor, which can interact with free tumor
            necrosis factor alpha to inhibit inflammation. Mutations in this
            gene underlie tumor necrosis factor receptor-associated periodic
            syndrome (TRAPS), characterized by fever, abdominal pain and other
            features. Mutations in this gene may also be associated with
            multiple sclerosis in human patients. [provided by RefSeq, Sep
            2016].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2171
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..2171
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="TNF receptor superfamily member 1A"
                     /db_xref="GeneID:7132"
                     /db_xref="HGNC:HGNC:11916"
                     /db_xref="MIM:191190"
     misc_feature    251..253
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="upstream in-frame stop codon"
     CDS             263..1630
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; tumor necrosis factor-alpha receptor; tumor necrosis
                     factor binding protein 1; tumor necrosis factor receptor
                     type 1; TNF-R1; TNF-RI; TNFR-I; tumor necrosis factor
                     receptor superfamily member 1A"
                     /codon_start=1
                     /product="tumor necrosis factor receptor superfamily member
                     1A isoform 1 precursor"
                     /protein_id="NP_001056.1"
                     /db_xref="CCDS:CCDS8542.1"
                     /db_xref="GeneID:7132"
                     /db_xref="HGNC:HGNC:11916"
                     /db_xref="MIM:191190"
                     /translation="MGLSTVPDLLLPLVLLELLVGIYPSGVIGLVPHLGDREKRDSVCP
                     QGKYIHPQNNSICCTKCHKGTYLYNDCPGPGQDTDCRECESGSFTASENHLRHCLSCSK
                     CRKEMGQVEISSCTVDRDTVCGCRKNQYRHYWSENLFQCFNCSLCLNGTVHLSCQEKQN
                     TVCTCHAGFFLRENECVSCSNCKKSLECTKLCLPQIENVKGTEDSGTTVLLPLVIFFGL
                     CLLSLLFIGLMYRYQRWKSKLYSIVCGKSTPEKEGELEGTTTKPLAPNPSFSPTPGFTP
                     TLGFSPVPSSTFTSSSTYTPGDCPNFAAPRREVAPPYQGADPILATALASDPIPNPLQK
                     WEDSAHKPQSLDTDDPATLYAVVENVPPLRWKEFVRRLGLSDHEIDRLELQNGRCLREA
                     QYSMLATWRRRTPRREATLELLGRVLRDMDLLGCLEDIEEALCGPAALPPAPSLLR"
     sig_peptide     263..349
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="/evidence=ECO:0000269|PubMed:2158862; propagated
                     from UniProtKB/Swiss-Prot (P19438.1)"
     mat_peptide     350..1627
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /product="Tumor necrosis factor receptor superfamily member
                     1A, membrane form. /id=PRO_0000034543"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1)"
     mat_peptide     383..865
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /product="Tumor necrosis factor-binding protein 1.
                     /id=PRO_0000034544"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1)"
     misc_feature    389..508
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1);
                     Region: TNFR-Cys 1"
     misc_feature    422..424
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P19438.1); glycosylation site"
     misc_feature    509..637
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1);
                     Region: TNFR-Cys 2"
     misc_feature    638..760
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1);
                     Region: TNFR-Cys 3"
     misc_feature    695..697
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P19438.1); glycosylation site"
     misc_feature    713..715
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P19438.1); glycosylation site"
     misc_feature    761..850
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1);
                     Region: TNFR-Cys 4"
     misc_feature    896..958
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1);
                     transmembrane region"
     misc_feature    1022..1081
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1274..1306
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="propagated from UniProtKB/Swiss-Prot (P19438.1);
                     Region: N-SMase activation domain (NSD)"
     misc_feature    1388..1390
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="(Microbial infection) N-beta-linked (GlcNAc)
                     arginine. /evidence=ECO:0000269|PubMed:30979585,
                     ECO:0000305|PubMed:23955153; propagated from
                     UniProtKB/Swiss-Prot (P19438.1); glycosylation site"
     regulatory      2152..2157
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="hexamer: ACTAAA"
     polyA_site      2171
                     /gene="TNFRSF1A"
                     /gene_synonym="CD120a; FPF; p55; p55-R; p60; TBP1; TNF-R;
                     TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR55; TNFR60"
                     /note="major polyA site"
ORIGIN
        1 actcttcccc tcccaccttc tctcccctcc tctctgcttt aattttctca gaattctctg
       61 gactgaggct ccagttctgg cctttggggt tcaagatcac tgggaccagg ccgtgatctc
      121 tatgcccgag tctcaaccct caactgtcac cccaaggcac ttgggacgtc ctggacagac
      181 cgagtcccgg gaagccccag cactgccgct gccacactgc cctgagccca aatgggggag
      241 tgagaggcca tagctgtctg gcatgggcct ctccaccgtg cctgacctgc tgctgccact
      301 ggtgctcctg gagctgttgg tgggaatata cccctcaggg gttattggac tggtccctca
      361 cctaggggac agggagaaga gagatagtgt gtgtccccaa ggaaaatata tccaccctca
      421 aaataattcg atttgctgta ccaagtgcca caaaggaacc tacttgtaca atgactgtcc
      481 aggcccgggg caggatacgg actgcaggga gtgtgagagc ggctccttca ccgcttcaga
      541 aaaccacctc agacactgcc tcagctgctc caaatgccga aaggaaatgg gtcaggtgga
      601 gatctcttct tgcacagtgg accgggacac cgtgtgtggc tgcaggaaga accagtaccg
      661 gcattattgg agtgaaaacc ttttccagtg cttcaattgc agcctctgcc tcaatgggac
      721 cgtgcacctc tcctgccagg agaaacagaa caccgtgtgc acctgccatg caggtttctt
      781 tctaagagaa aacgagtgtg tctcctgtag taactgtaag aaaagcctgg agtgcacgaa
      841 gttgtgccta ccccagattg agaatgttaa gggcactgag gactcaggca ccacagtgct
      901 gttgcccctg gtcattttct ttggtctttg ccttttatcc ctcctcttca ttggtttaat
      961 gtatcgctac caacggtgga agtccaagct ctactccatt gtttgtggga aatcgacacc
     1021 tgaaaaagag ggggagcttg aaggaactac tactaagccc ctggccccaa acccaagctt
     1081 cagtcccact ccaggcttca cccccaccct gggcttcagt cccgtgccca gttccacctt
     1141 cacctccagc tccacctata cccccggtga ctgtcccaac tttgcggctc cccgcagaga
     1201 ggtggcacca ccctatcagg gggctgaccc catccttgcg acagccctcg cctccgaccc
     1261 catccccaac ccccttcaga agtgggagga cagcgcccac aagccacaga gcctagacac
     1321 tgatgacccc gcgacgctgt acgccgtggt ggagaacgtg cccccgttgc gctggaagga
     1381 attcgtgcgg cgcctagggc tgagcgacca cgagatcgat cggctggagc tgcagaacgg
     1441 gcgctgcctg cgcgaggcgc aatacagcat gctggcgacc tggaggcggc gcacgccgcg
     1501 gcgcgaggcc acgctggagc tgctgggacg cgtgctccgc gacatggacc tgctgggctg
     1561 cctggaggac atcgaggagg cgctttgcgg ccccgccgcc ctcccgcccg cgcccagtct
     1621 tctcagatga ggctgcgccc ctgcgggcag ctctaaggac cgtcctgcga gatcgccttc
     1681 caaccccact tttttctgga aaggaggggt cctgcagggg caagcaggag ctagcagccg
     1741 cctacttggt gctaacccct cgatgtacat agcttttctc agctgcctgc gcgccgccga
     1801 cagtcagcgc tgtgcgcgcg gagagaggtg cgccgtgggc tcaagagcct gagtgggtgg
     1861 tttgcgagga tgagggacgc tatgcctcat gcccgttttg ggtgtcctca ccagcaaggc
     1921 tgctcggggg cccctggttc gtccctgagc ctttttcaca gtgcataagc agtttttttt
     1981 gtttttgttt tgttttgttt tgtttttaaa tcaatcatgt tacactaata gaaacttggc
     2041 actcctgtgc cctctgcctg gacaagcaca tagcaagctg aactgtccta aggcaggggc
     2101 gagcacggaa caatggggcc ttcagctgga gctgtggact tttgtacata cactaaaatt
     2161 ctgaagttaa a
//
LOCUS       NM_001066               3687 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens TNF receptor superfamily member 1B (TNFRSF1B), mRNA.
ACCESSION   NM_001066
VERSION     NM_001066.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3687)
  AUTHORS   Gao Z, Zhang Q, Chen H, Chen J, Kang J, Yu H, Song Y and Zhang X.
  TITLE     TNFR2 promotes pancreatic cancer proliferation, migration, and
            invasion via the NF-kappaB signaling pathway
  JOURNAL   Aging (Albany NY) 15 (16), 8013-8025 (2023)
   PUBMED   37589506
  REMARK    GeneRIF: TNFR2 promotes pancreatic cancer proliferation, migration,
            and invasion via the NF-kappaB signaling pathway.
REFERENCE   2  (bases 1 to 3687)
  AUTHORS   Le-Trilling VTK, Maassen F, Katschinski B, Hengel H and Trilling M.
  TITLE     Deletion of the non-adjacent genes UL148 and UL148D impairs human
            cytomegalovirus-mediated TNF receptor 2 surface upregulation
  JOURNAL   Front Immunol 14, 1170300 (2023)
   PUBMED   37600801
  REMARK    GeneRIF: Deletion of the non-adjacent genes UL148 and UL148D impairs
            human cytomegalovirus-mediated TNF receptor 2 surface upregulation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3687)
  AUTHORS   Liao P, Jiang M, Islam MS, Wang Y and Chen X.
  TITLE     TNFR2 expression predicts the responses to immune checkpoint
            inhibitor treatments
  JOURNAL   Front Immunol 14, 1097090 (2023)
   PUBMED   36865537
  REMARK    GeneRIF: TNFR2 expression predicts the responses to immune
            checkpoint inhibitor treatments. Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3687)
  AUTHORS   Alshevskaya A, Lopatnikova J, Zhukova J, Chumasova O, Shkaruba N,
            Sizikov A, Evsegneeva I, Demina D, Nepomniashchikch V, Karaulov A
            and Sennikov S.
  TITLE     The Influence of Severity and Disease Duration on TNF Receptors'
            Redistribution in Asthma and Rheumatoid Arthritis
  JOURNAL   Cells 12 (1), 5 (2022)
   PUBMED   36611799
  REMARK    GeneRIF: The Influence of Severity and Disease Duration on TNF
            Receptors' Redistribution in Asthma and Rheumatoid Arthritis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3687)
  AUTHORS   Pesce B, Ribeiro CH, Larrondo M, Ramos V, Soto L, Catalan D and
            Aguillon JC.
  TITLE     TNF-alpha Affects Signature Cytokines of Th1 and Th17 T Cell Subsets
            through Differential Actions on TNFR1 and TNFR2
  JOURNAL   Int J Mol Sci 23 (16), 9306 (2022)
   PUBMED   36012570
  REMARK    GeneRIF: TNF-alpha Affects Signature Cytokines of Th1 and Th17 T
            Cell Subsets through Differential Actions on TNFR1 and TNFR2.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3687)
  AUTHORS   Pocsik E, Higuchi M and Aggarwal BB.
  TITLE     Down-modulation of cell surface expression of p80 form of the tumor
            necrosis factor receptor by human immunodeficiency virus-1 tat gene
  JOURNAL   Lymphokine Cytokine Res 11 (6), 317-325 (1992)
   PUBMED   1335762
REFERENCE   7  (bases 1 to 3687)
  AUTHORS   Pennica D, Lam VT, Mize NK, Weber RF, Lewis M, Fendly BM, Lipari MT
            and Goeddel DV.
  TITLE     Biochemical properties of the 75-kDa tumor necrosis factor receptor.
            Characterization of ligand binding, internalization, and receptor
            phosphorylation
  JOURNAL   J Biol Chem 267 (29), 21172-21178 (1992)
   PUBMED   1328224
REFERENCE   8  (bases 1 to 3687)
  AUTHORS   Ryffel B, Brockhaus M, Greiner B, Mihatsch MJ and Gudat F.
  TITLE     Tumour necrosis factor receptor distribution in human lymphoid
            tissue
  JOURNAL   Immunology 74 (3), 446-452 (1991)
   PUBMED   1663076
REFERENCE   9  (bases 1 to 3687)
  AUTHORS   Kemper O, Derre J, Cherif D, Engelmann H, Wallach D and Berger R.
  TITLE     The gene for the type II (p75) tumor necrosis factor receptor
            (TNF-RII) is localized on band 1p36.2-p36.3
  JOURNAL   Hum Genet 87 (5), 623-624 (1991)
   PUBMED   1655619
REFERENCE   10  (bases 1 to 3687)
  AUTHORS   Bost R and Hostein J.
  TITLE     [Gastroduodenal reflux and non-ulcerous dyspepsia. Is it an
            accidental association?]
  JOURNAL   Ann Gastroenterol Hepatol (Paris) 27 (4), 191-192 (1991)
   PUBMED   1929203
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: M32315.1, SRR1803617.222840.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000376259.7/ ENSP00000365435.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL357835.11 and AL031276.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 26, 2018 this sequence version replaced NM_001066.2.
            Summary: The protein encoded by this gene is a member of the
            TNF-receptor superfamily. This protein and TNF-receptor 1 form a
            heterocomplex that mediates the recruitment of two anti-apoptotic
            proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase
            activity. The function of IAPs in TNF-receptor signalling is
            unknown, however, c-IAP1 is thought to potentiate TNF-induced
            apoptosis by the ubiquitination and degradation of
            TNF-receptor-associated factor 2, which mediates anti-apoptotic
            signals. Knockout studies in mice also suggest a role of this
            protein in protecting neurons from apoptosis by stimulating
            antioxidative pathways. [provided by RefSeq, Jul 2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3687
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     gene            1..3687
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="TNF receptor superfamily member 1B"
                     /db_xref="GeneID:7133"
                     /db_xref="HGNC:HGNC:11917"
                     /db_xref="MIM:191191"
     CDS             102..1487
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="tumor necrosis factor beta receptor; tumor necrosis
                     factor binding protein 2; p75 TNF receptor; TNF-R2;
                     TNF-RII; p80 TNF-alpha receptor; tumor necrosis factor
                     receptor 2; tumor necrosis factor receptor type II; tumor
                     necrosis factor receptor superfamily member 1B"
                     /codon_start=1
                     /product="tumor necrosis factor receptor superfamily member
                     1B precursor"
                     /protein_id="NP_001057.1"
                     /db_xref="CCDS:CCDS145.1"
                     /db_xref="GeneID:7133"
                     /db_xref="HGNC:HGNC:11917"
                     /db_xref="MIM:191191"
                     /translation="MAPVAVWAALAVGLELWAAAHALPAQVAFTPYAPEPGSTCRLREY
                     YDQTAQMCCSKCSPGQHAKVFCTKTSDTVCDSCEDSTYTQLWNWVPECLSCGSRCSSDQ
                     VETQACTREQNRICTCRPGWYCALSKQEGCRLCAPLRKCRPGFGVARPGTETSDVVCKP
                     CAPGTFSNTTSSTDICRPHQICNVVAIPGNASMDAVCTSTSPTRSMAPGAVHLPQPVST
                     RSQHTQPTPEPSTAPSTSFLLPMGPSPPAEGSTGDFALPVGLIVGVTALGLLIIGVVNC
                     VIMTQVKKKPLCLQREAKVPHLPADKARGTQGPEQQHLLITAPSSSSSSLESSASALDR
                     RAPTRNQPQAPGVEASGAGEARASTGSSDSSPGGHGTQVNVTCIVNVCSSSDHSSQCSS
                     QASSTMGDTDSSPSESPKDEQVPFSKEECAFRSQLETPETLLGSTEEKPLPLGVPDAGM
                     KPS"
     sig_peptide     102..167
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     168..1484
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /product="tumor necrosis factor receptor superfamily member
                     1B"
     misc_feature    189..191
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:25456591; propagated from
                     UniProtKB/Swiss-Prot (P20333.3); glycosylation site"
     misc_feature    216..329
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="propagated from UniProtKB/Swiss-Prot (P20333.3);
                     Region: TNFR-Cys 1"
     misc_feature    330..455
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="propagated from UniProtKB/Swiss-Prot (P20333.3);
                     Region: TNFR-Cys 2"
     misc_feature    456..587
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="propagated from UniProtKB/Swiss-Prot (P20333.3);
                     Region: TNFR-Cys 3"
     misc_feature    588..704
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="propagated from UniProtKB/Swiss-Prot (P20333.3);
                     Region: TNFR-Cys 4"
     misc_feature    612..614
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P20333.3); glycosylation site"
     misc_feature    678..680
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P20333.3); glycosylation site"
     misc_feature    717..719
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:25456591; propagated from
                     UniProtKB/Swiss-Prot (P20333.3); glycosylation site"
     misc_feature    723..863
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="propagated from UniProtKB/Swiss-Prot (P20333.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    762..764
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="O-linked (GalNAc...) serine.
                     /evidence=ECO:0000269|PubMed:25456591; propagated from
                     UniProtKB/Swiss-Prot (P20333.3); glycosylation site"
     misc_feature    765..767
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="O-linked (GalNAc...) threonine.
                     /evidence=ECO:0000269|PubMed:25456591; propagated from
                     UniProtKB/Swiss-Prot (P20333.3); glycosylation site"
     misc_feature    873..962
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="propagated from UniProtKB/Swiss-Prot (P20333.3);
                     transmembrane region"
     misc_feature    1062..1232
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="propagated from UniProtKB/Swiss-Prot (P20333.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1089..1091
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P20333.3); phosphorylation site"
     misc_feature    1281..1484
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="propagated from UniProtKB/Swiss-Prot (P20333.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3669..3674
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="hexamer: AATAAA"
     polyA_site      3687
                     /gene="TNFRSF1B"
                     /gene_synonym="CD120b; p75; p75TNFR; TBPII; TNF-R-II;
                     TNF-R75; TNFBR; TNFR1B; TNFR2; TNFR80"
                     /note="major polyA site"
ORIGIN
        1 agtcgagggc tagcgagcgc agcggagcct ggagagaagg cgctgggctg cgagggcgcg
       61 agggcgcgag ggcagggggc aaccggaccc cgcccgcacc catggcgccc gtcgccgtct
      121 gggccgcgct ggccgtcgga ctggagctct gggctgcggc gcacgccttg cccgcccagg
      181 tggcatttac accctacgcc ccggagcccg ggagcacatg ccggctcaga gaatactatg
      241 accagacagc tcagatgtgc tgcagcaaat gctcgccggg ccaacatgca aaagtcttct
      301 gtaccaagac ctcggacacc gtgtgtgact cctgtgagga cagcacatac acccagctct
      361 ggaactgggt tcccgagtgc ttgagctgtg gctcccgctg tagctctgac caggtggaaa
      421 ctcaagcctg cactcgggaa cagaaccgca tctgcacctg caggcccggc tggtactgcg
      481 cgctgagcaa gcaggagggg tgccggctgt gcgcgccgct gcgcaagtgc cgcccgggct
      541 tcggcgtggc cagaccagga actgaaacat cagacgtggt gtgcaagccc tgtgccccgg
      601 ggacgttctc caacacgact tcatccacgg atatttgcag gccccaccag atctgtaacg
      661 tggtggccat ccctgggaat gcaagcatgg atgcagtctg cacgtccacg tcccccaccc
      721 ggagtatggc cccaggggca gtacacttac cccagccagt gtccacacga tcccaacaca
      781 cgcagccaac tccagaaccc agcactgctc caagcacctc cttcctgctc ccaatgggcc
      841 ccagcccccc agctgaaggg agcactggcg acttcgctct tccagttgga ctgattgtgg
      901 gtgtgacagc cttgggtcta ctaataatag gagtggtgaa ctgtgtcatc atgacccagg
      961 tgaaaaagaa gcccttgtgc ctgcagagag aagccaaggt gcctcacttg cctgccgata
     1021 aggcccgggg tacacagggc cccgagcagc agcacctgct gatcacagcg ccgagctcca
     1081 gcagcagctc cctggagagc tcggccagtg cgttggacag aagggcgccc actcggaacc
     1141 agccacaggc accaggcgtg gaggccagtg gggccgggga ggcccgggcc agcaccggga
     1201 gctcagattc ttcccctggt ggccatggga cccaggtcaa tgtcacctgc atcgtgaacg
     1261 tctgtagcag ctctgaccac agctcacagt gctcctccca agccagctcc acaatgggag
     1321 acacagattc cagcccctcg gagtccccga aggacgagca ggtccccttc tccaaggagg
     1381 aatgtgcctt tcggtcacag ctggagacgc cagagaccct gctggggagc accgaagaga
     1441 agcccctgcc ccttggagtg cctgatgctg ggatgaagcc cagttaacca ggccggtgtg
     1501 ggctgtgtcg tagccaaggt gggctgagcc ctggcaggat gaccctgcga aggggccctg
     1561 gtccttccag gcccccacca ctaggactct gaggctcttt ctgggccaag ttcctctagt
     1621 gccctccaca gccgcagcct ccctctgacc tgcaggccaa gagcagaggc agcgagttgt
     1681 ggaaagcctc tgctgccatg gcgtgtccct ctcggaaggc tggctgggca tggacgttcg
     1741 gggcatgctg gggcaagtcc ctgactctct gtgacctgcc ccgcccagct gcacctgcca
     1801 gcctggcttc tggagccctt gggttttttg tttgtttgtt tgtttgtttg tttgtttctc
     1861 cccctgggct ctgccccagc tctggcttcc agaaaacccc agcatccttt tctgcagagg
     1921 ggctttctgg agaggaggga tgctgcctga gtcacccatg aagacaggac agtgcttcag
     1981 cctgaggctg agactgcggg atggtcctgg ggctctgtgc agggaggagg tggcagccct
     2041 gtagggaacg gggtccttca agttagctca ggaggcttgg aaagcatcac ctcaggccag
     2101 gtgcagtggc tcacgcctat gatcccagca ctttgggagg ctgaggcggg tggatcacct
     2161 gaggttagga gttcgagacc agcctggcca acatggtaaa accccatctc tactaaaaat
     2221 acagaaatta gccgggcgtg gtggcgggca cctatagtcc cagctactca gaagcctgag
     2281 gctgggaaat cgtttgaacc cgggaagcgg aggttgcagg gagccgagat cacgccactg
     2341 cactccagcc tgggcgacag agcgagagtc tgtctcaaaa gaaaaaaaaa agcaccgcct
     2401 ccaaatgcca acttgtcctt ttgtaccatg gtgtgaaagt cagatgccca gagggcccag
     2461 gcaggccacc atattcagtg ctgtggcctg ggcaagataa cgcacttcta actagaaatc
     2521 tgccaatttt ttaaaaaagt aagtaccact caggccaaca agccaacgac aaagccaaac
     2581 tctgccagcc acatccaacc ccccacctgc catttgcacc ctccgccttc actccggtgt
     2641 gcctgcagcc ccgcgcctcc ttccttgctg tcctaggcca caccatctcc tttcagggaa
     2701 tttcaggaac tagagatgac tgagtcctcg tagccatctc tctactccta cctcagccta
     2761 gaccctcctc ctcccccaga ggggtgggtt cctcttcccc actccccacc ttcaattcct
     2821 gggccccaaa cgggctgccc tgccactttg gtacatggcc agtgtgatcc caagtgccag
     2881 tcttgtgtct gcgtctgtgt tgcgtgtcgt gggtgtgtgt agccaaggtc ggtaagttga
     2941 atggcctgcc ttgaagccac tgaagctggg attcctcccc attagagtca gccttccccc
     3001 tcccagggcc agggccctgc agaggggaaa ccagtgtagc cttgcccgga ttctgggagg
     3061 aagcaggttg aggggctcct ggaaaggctc agtctcagga gcatggggat aaaggagaag
     3121 gcatgaaatt gtctagcaga gcaggggcag ggtgataaat tgttgataaa ttccactgga
     3181 cttgagcttg gcagctgaac tattggaggg tgggagagcc cagccattac catggagaca
     3241 agaagggttt tccaccctgg aatcaagatg tcagactggc tggctgcagt gacgtgcacc
     3301 tgtactcagg aggctgaggg gaggatcact ggagcccagg agtttgaggc tgcagcgagc
     3361 tatgatcgcg ccactacact ccagcctgag caacagagtg agaccctgtc tcttaaagaa
     3421 aaaaaaagtc agactgctgg gactggccag gtttctgccc acattggacc cacatgagga
     3481 catgatggag cgcacctgcc ccctggtgga cagtcctggg agaacctcag gcttccttgg
     3541 catcacaggg cagagccggg aagcgatgaa tttggagact ctgtggggcc ttggttccct
     3601 tgtgtgtgtg tgttgatccc aagacaatga aagtttgcac tgtatgctgg acggcattcc
     3661 tgcttatcaa taaacctgtt tgtttta
//
LOCUS       NM_001067               5695 bp    mRNA    linear   PRI 10-SEP-2023
DEFINITION  Homo sapiens DNA topoisomerase II alpha (TOP2A), mRNA.
ACCESSION   NM_001067
VERSION     NM_001067.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5695)
  AUTHORS   Petsalaki E, Balafouti S, Kyriazi AA and Zachos G.
  TITLE     The abscission checkpoint senses chromatin bridges through Top2alpha
            recruitment to DNA knots
  JOURNAL   J Cell Biol 222 (11) (2023)
   PUBMED   37638884
  REMARK    GeneRIF: The abscission checkpoint senses chromatin bridges through
            Top2alpha recruitment to DNA knots.
REFERENCE   2  (bases 1 to 5695)
  AUTHORS   Gielniewski B, Poleszak K, Roura AJ, Szadkowska P, Jacek K, Krol SK,
            Guzik R, Wiechecka P, Maleszewska M, Kaza B, Marchel A, Czernicki T,
            Koziarski A, Zielinski G, Styk A, Kawecki M, Szczylik C, Czepko R,
            Banach M, Kaspera W, Szopa W, Bujko M, Czapski B, Zabek M,
            Izycka-Swieszewska E, Kloc W, Nauman P, Cieslewicz J, Grajkowska W,
            Morosini N, Noushmehr H, Wojtas B and Kaminska B.
  TITLE     Targeted sequencing of cancer-related genes reveals a recurrent
            TOP2A variant which affects DNA binding and coincides with global
            transcriptional changes in glioblastoma
  JOURNAL   Int J Cancer 153 (5), 1003-1015 (2023)
   PUBMED   37338006
  REMARK    GeneRIF: Targeted sequencing of cancer-related genes reveals a
            recurrent TOP2A variant which affects DNA binding and coincides with
            global transcriptional changes in glioblastoma.
REFERENCE   3  (bases 1 to 5695)
  AUTHORS   Liu Y, Yu K, Zhang K, Niu M, Chen Q, Liu Y, Wang L, Zhang N, Li W,
            Zhong X, Li G, Wu S, Zhang J and Liu Y.
  TITLE     O-GlcNAcylation promotes topoisomerase IIalpha catalytic activity in
            breast cancer chemoresistance
  JOURNAL   EMBO Rep 24 (7), e56458 (2023)
   PUBMED   37249035
  REMARK    GeneRIF: O-GlcNAcylation promotes topoisomerase IIalpha catalytic
            activity in breast cancer chemoresistance.
REFERENCE   4  (bases 1 to 5695)
  AUTHORS   Roganowicz M, Bar D, Bersaglieri C, Aprigliano R and Santoro R.
  TITLE     BAZ2A-RNA mediated association with TOP2A and KDM1A represses genes
            implicated in prostate cancer
  JOURNAL   Life Sci Alliance 6 (7), e202301950 (2023)
   PUBMED   37184661
  REMARK    GeneRIF: BAZ2A-RNA mediated association with TOP2A and KDM1A
            represses genes implicated in prostate cancer. Publication Status:
            Online-Only
REFERENCE   5  (bases 1 to 5695)
  AUTHORS   Keith WN, Tan KB and Brown R.
  TITLE     Amplification of the topoisomerase II alpha gene in a non-small cell
            lung cancer cell line and characterisation of polymorphisms at the
            human topoisomerase II alpha and beta loci in normal tissue
  JOURNAL   Genes Chromosomes Cancer 4 (2), 169-175 (1992)
   PUBMED   1373318
REFERENCE   6  (bases 1 to 5695)
  AUTHORS   Tan KB, Dorman TE, Falls KM, Chung TD, Mirabelli CK, Crooke ST and
            Mao J.
  TITLE     Topoisomerase II alpha and topoisomerase II beta genes:
            characterization and mapping to human chromosomes 17 and 3,
            respectively
  JOURNAL   Cancer Res 52 (1), 231-234 (1992)
   PUBMED   1309226
REFERENCE   7  (bases 1 to 5695)
  AUTHORS   Bugg BY, Danks MK, Beck WT and Suttle DP.
  TITLE     Expression of a mutant DNA topoisomerase II in CCRF-CEM human
            leukemic cells selected for resistance to teniposide
  JOURNAL   Proc Natl Acad Sci U S A 88 (17), 7654-7658 (1991)
   PUBMED   1652758
REFERENCE   8  (bases 1 to 5695)
  AUTHORS   Chung TD, Drake FH, Tan KB, Per SR, Crooke ST and Mirabelli CK.
  TITLE     Characterization and immunological identification of cDNA clones
            encoding two human DNA topoisomerase II isozymes
  JOURNAL   Proc Natl Acad Sci U S A 86 (23), 9431-9435 (1989)
   PUBMED   2556712
REFERENCE   9  (bases 1 to 5695)
  AUTHORS   Tsai-Pflugfelder M, Liu LF, Liu AA, Tewey KM, Whang-Peng J, Knutsen
            T, Huebner K, Croce CM and Wang JC.
  TITLE     Cloning and sequencing of cDNA encoding human DNA topoisomerase II
            and localization of the gene to chromosome region 17q21-22
  JOURNAL   Proc Natl Acad Sci U S A 85 (19), 7177-7181 (1988)
   PUBMED   2845399
REFERENCE   10  (bases 1 to 5695)
  AUTHORS   Singh SP, Mohamed R, Salmond C and Lavin MF.
  TITLE     Reduced DNA topoisomerase II activity in ataxia-telangiectasia cells
  JOURNAL   Nucleic Acids Res 16 (9), 3919-3929 (1988)
   PUBMED   2836804
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC140791.1, J04088.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000423485.6/ ENSP00000411532.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB069825.1, BC140791.1 and
            AC080112.15.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001067.3.
            Summary: This gene encodes a DNA topoisomerase, an enzyme that
            controls and alters the topologic states of DNA during
            transcription. This nuclear enzyme is involved in processes such as
            chromosome condensation, chromatid separation, and the relief of
            torsional stress that occurs during DNA transcription and
            replication. It catalyzes the transient breaking and rejoining of
            two strands of duplex DNA which allows the strands to pass through
            one another, thus altering the topology of DNA. Two forms of this
            enzyme exist as likely products of a gene duplication event. The
            gene encoding this form, alpha, is localized to chromosome 17 and
            the beta gene is localized to chromosome 3. The gene encoding this
            enzyme functions as the target for several anticancer agents and a
            variety of mutations in this gene have been associated with the
            development of drug resistance. Reduced activity of this enzyme may
            also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul
            2010].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..5695
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..5695
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="DNA topoisomerase II alpha"
                     /db_xref="GeneID:7153"
                     /db_xref="HGNC:HGNC:11989"
                     /db_xref="MIM:126430"
     misc_feature    64..66
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="upstream in-frame stop codon"
     CDS             106..4701
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /EC_number="5.6.2.2"
                     /note="DNA gyrase; DNA topoisomerase (ATP-hydrolyzing); DNA
                     topoisomerase II, 170 kD; DNA topoisomerase II, alpha
                     isozyme; topoisomerase (DNA) II alpha 170kDa"
                     /codon_start=1
                     /product="DNA topoisomerase 2-alpha"
                     /protein_id="NP_001058.2"
                     /db_xref="CCDS:CCDS45672.1"
                     /db_xref="GeneID:7153"
                     /db_xref="HGNC:HGNC:11989"
                     /db_xref="MIM:126430"
                     /translation="MEVSPLQPVNENMQVNKIKKNEDAKKRLSVERIYQKKTQLEHILL
                     RPDTYIGSVELVTQQMWVYDEDVGINYREVTFVPGLYKIFDEILVNAADNKQRDPKMSC
                     IRVTIDPENNLISIWNNGKGIPVVEHKVEKMYVPALIFGQLLTSSNYDDDEKKVTGGRN
                     GYGAKLCNIFSTKFTVETASREYKKMFKQTWMDNMGRAGEMELKPFNGEDYTCITFQPD
                     LSKFKMQSLDKDIVALMVRRAYDIAGSTKDVKVFLNGNKLPVKGFRSYVDMYLKDKLDE
                     TGNSLKVIHEQVNHRWEVCLTMSEKGFQQISFVNSIATSKGGRHVDYVADQIVTKLVDV
                     VKKKNKGGVAVKAHQVKNHMWIFVNALIENPTFDSQTKENMTLQPKSFGSTCQLSEKFI
                     KAAIGCGIVESILNWVKFKAQVQLNKKCSAVKHNRIKGIPKLDDANDAGGRNSTECTLI
                     LTEGDSAKTLAVSGLGVVGRDKYGVFPLRGKILNVREASHKQIMENAEINNIIKIVGLQ
                     YKKNYEDEDSLKTLRYGKIMIMTDQDQDGSHIKGLLINFIHHNWPSLLRHRFLEEFITP
                     IVKVSKNKQEMAFYSLPEFEEWKSSTPNHKKWKVKYYKGLGTSTSKEAKEYFADMKRHR
                     IQFKYSGPEDDAAISLAFSKKQIDDRKEWLTNFMEDRRQRKLLGLPEDYLYGQTTTYLT
                     YNDFINKELILFSNSDNERSIPSMVDGLKPGQRKVLFTCFKRNDKREVKVAQLAGSVAE
                     MSSYHHGEMSLMMTIINLAQNFVGSNNLNLLQPIGQFGTRLHGGKDSASPRYIFTMLSS
                     LARLLFPPKDDHTLKFLYDDNQRVEPEWYIPIIPMVLINGAEGIGTGWSCKIPNFDVRE
                     IVNNIRRLMDGEEPLPMLPSYKNFKGTIEELAPNQYVISGEVAILNSTTIEISELPVRT
                     WTQTYKEQVLEPMLNGTEKTPPLITDYREYHTDTTVKFVVKMTEEKLAEAERVGLHKVF
                     KLQTSLTCNSMVLFDHVGCLKKYDTVLDILRDFFELRLKYYGLRKEWLLGMLGAESAKL
                     NNQARFILEKIDGKIIIENKPKKELIKVLIQRGYDSDPVKAWKEAQQKVPDEEENEESD
                     NEKETEKSDSVTDSGPTFNYLLDMPLWYLTKEKKDELCRLRNEKEQELDTLKRKSPSDL
                     WKEDLATFIEELEAVEAKEKQDEQVGLPGKGGKAKGKKTQMAEVLPSPRGQRVIPRITI
                     EMKAEAEKKNKKKIKNENTEGSPQEDGVELEGLKQRLEKKQKREPGTKTKKQTTLAFKP
                     IKKGKKRNPWSDSESDRSSDESNFDVPPRETEPRRAATKTKFTMDLDSDEDFSDFDEKT
                     DDEDFVPSDASPPKTKTSPKLSNKELKPQKSVVSDLEADDVKGSVPLSSSPPATHFPDE
                     TEITNPVPKKNVTVKKTAAKSQSSTSTTGAKKRAAPKGTKRDPALNSGVSQKPDPAKTK
                     NRRKRKPSTSDDSDSNFEKIVSKAVTSKKSKGESDDFHMDFDSAVAPRAKSVRAKKPIK
                     YLEESDEDDLF"
     misc_feature    106..108
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.10,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); acetylation site"
     misc_feature    115..117
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P11388.3);
                     phosphorylation site"
     misc_feature    949..951
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    1129..1137
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="propagated from UniProtKB/Swiss-Prot (P11388.3);
                     Region: Interaction with DNA.
                     /evidence=ECO:0000305|PubMed:23022727"
     misc_feature    1570..1572
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Interaction with DNA.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00995; propagated
                     from UniProtKB/Swiss-Prot (P11388.3); other site"
     misc_feature    1579..1581
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Interaction with DNA.
                     /evidence=ECO:0000269|PubMed:22841979; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); other site"
     misc_feature    2086..2088
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Interaction with DNA.
                     /evidence=ECO:0000269|PubMed:22841979; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); other site"
     misc_feature    2089..2091
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Interaction with DNA.
                     /evidence=ECO:0000269|PubMed:22841979; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); other site"
     misc_feature    2272..2274
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Interaction with DNA.
                     /evidence=ECO:0000269|PubMed:22841979; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); other site"
     misc_feature    2374..2376
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Interaction with DNA.
                     /evidence=ECO:0000269|PubMed:22841979; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); other site"
     misc_feature    2392..2394
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Interaction with DNA.
                     /evidence=ECO:0000269|PubMed:22841979; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); other site"
     misc_feature    2515..2517
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Transition state stabilizer.
                     /evidence=ECO:0000250|UniProtKB:P06786; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); other site"
     misc_feature    2671..2673
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Important for DNA bending, intercalates between base
                     pairs of target DNA.
                     /evidence=ECO:0000250|UniProtKB:P06786; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); other site"
     misc_feature    2896..2898
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Interaction with DNA.
                     /evidence=ECO:0000269|PubMed:22841979; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); other site"
     misc_feature    3073..3102
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="propagated from UniProtKB/Swiss-Prot (P11388.3);
                     Region: Interaction with DNA.
                     /evidence=ECO:0000269|PubMed:22841979"
     misc_feature    3157..3189
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="propagated from UniProtKB/Swiss-Prot (P11388.3);
                     Region: Nuclear export signal"
     misc_feature    3373..3474
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="propagated from UniProtKB/Swiss-Prot (P11388.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3421..3423
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine, by CK1.
                     /evidence=ECO:0000269|PubMed:19043076, ECO:0000269|Ref.11,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    3655..4698
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="propagated from UniProtKB/Swiss-Prot (P11388.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3718..3720
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    3742..3744
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P11388.3);
                     phosphorylation site"
     misc_feature    3835..3837
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    3844..3846
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:17924679, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P11388.3);
                     phosphorylation site"
     misc_feature    3988..3990
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    3994..3996
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4000..4002
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4009..4011
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4084..4086
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q01320; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4099..4101
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P11388.3);
                     phosphorylation site"
     misc_feature    4114..4116
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P11388.3);
                     phosphorylation site"
     misc_feature    4132..4134
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphothreonine, by PLK3.
                     /evidence=ECO:0000269|PubMed:18062778,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P11388.3);
                     phosphorylation site"
     misc_feature    4156..4158
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4165..4167
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692;
                     propagated from UniProtKB/Swiss-Prot (P11388.3);
                     phosphorylation site"
     misc_feature    4225..4227
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4234..4236
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4264..4266
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4276..4278
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4279..4281
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4282..4284
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4369..4371
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q01320; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); acetylation site"
     misc_feature    4402..4422
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="propagated from UniProtKB/Swiss-Prot (P11388.3);
                     Region: Interaction with PLSCR1.
                     /evidence=ECO:0000269|PubMed:17567603"
     misc_feature    4429..4431
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:Q01320; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); acetylation site"
     misc_feature    4450..4452
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4510..4512
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine, by CK2.
                     /evidence=ECO:0000269|PubMed:10942766,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4513..4515
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4516..4518
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4525..4527
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4531..4533
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4588..4590
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4615..4617
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     misc_feature    4678..4680
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (P11388.3); phosphorylation site"
     regulatory      5672..5677
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="hexamer: AATAAA"
     polyA_site      5695
                     /gene="TOP2A"
                     /gene_synonym="TOP2; TOP2alpha; TOPIIA; TP2A"
                     /note="major polyA site"
ORIGIN
        1 aaccgacgcg cgtctgtgga gaagcggctt ggtcgggggt ggtctcgtgg ggtcctgcct
       61 gtttagtcgc tttcagggtt cttgagcccc ttcacgaccg tcaccatgga agtgtcacca
      121 ttgcagcctg taaatgaaaa tatgcaagtc aacaaaataa agaaaaatga agatgctaag
      181 aaaagactgt ctgttgaaag aatctatcaa aagaaaacac aattggaaca tattttgctc
      241 cgcccagaca cctacattgg ttctgtggaa ttagtgaccc agcaaatgtg ggtttacgat
      301 gaagatgttg gcattaacta tagggaagtc acttttgttc ctggtttgta caaaatcttt
      361 gatgagattc tagttaatgc tgcggacaac aaacaaaggg acccaaaaat gtcttgtatt
      421 agagtcacaa ttgatccgga aaacaattta attagtatat ggaataatgg aaaaggtatt
      481 cctgttgttg aacacaaagt tgaaaagatg tatgtcccag ctctcatatt tggacagctc
      541 ctaacttcta gtaactatga tgatgatgaa aagaaagtga caggtggtcg aaatggctat
      601 ggagccaaat tgtgtaacat attcagtacc aaatttactg tggaaacagc cagtagagaa
      661 tacaagaaaa tgttcaaaca gacatggatg gataatatgg gaagagctgg tgagatggaa
      721 ctcaagccct tcaatggaga agattataca tgtatcacct ttcagcctga tttgtctaag
      781 tttaaaatgc aaagcctgga caaagatatt gttgcactaa tggtcagaag agcatatgat
      841 attgctggat ccaccaaaga tgtcaaagtc tttcttaatg gaaataaact gccagtaaaa
      901 ggatttcgta gttatgtgga catgtatttg aaggacaagt tggatgaaac tggtaactcc
      961 ttgaaagtaa tacatgaaca agtaaaccac aggtgggaag tgtgtttaac tatgagtgaa
     1021 aaaggctttc agcaaattag ctttgtcaac agcattgcta catccaaggg tggcagacat
     1081 gttgattatg tagctgatca gattgtgact aaacttgttg atgttgtgaa gaagaagaac
     1141 aagggtggtg ttgcagtaaa agcacatcag gtgaaaaatc acatgtggat ttttgtaaat
     1201 gccttaattg aaaacccaac ctttgactct cagacaaaag aaaacatgac tttacaaccc
     1261 aagagctttg gatcaacatg ccaattgagt gaaaaattta tcaaagctgc cattggctgt
     1321 ggtattgtag aaagcatact aaactgggtg aagtttaagg cccaagtcca gttaaacaag
     1381 aagtgttcag ctgtaaaaca taatagaatc aagggaattc ccaaactcga tgatgccaat
     1441 gatgcagggg gccgaaactc cactgagtgt acgcttatcc tgactgaggg agattcagcc
     1501 aaaactttgg ctgtttcagg ccttggtgtg gttgggagag acaaatatgg ggttttccct
     1561 cttagaggaa aaatactcaa tgttcgagaa gcttctcata agcagatcat ggaaaatgct
     1621 gagattaaca atatcatcaa gattgtgggt cttcagtaca agaaaaacta tgaagatgaa
     1681 gattcattga agacgcttcg ttatgggaag ataatgatta tgacagatca ggaccaagat
     1741 ggttcccaca tcaaaggctt gctgattaat tttatccatc acaactggcc ctctcttctg
     1801 cgacatcgtt ttctggagga atttatcact cccattgtaa aggtatctaa aaacaagcaa
     1861 gaaatggcat tttacagcct tcctgaattt gaagagtgga agagttctac tccaaatcat
     1921 aaaaaatgga aagtcaaata ttacaaaggt ttgggcacca gcacatcaaa ggaagctaaa
     1981 gaatactttg cagatatgaa aagacatcgt atccagttca aatattctgg tcctgaagat
     2041 gatgctgcta tcagcctggc ctttagcaaa aaacagatag atgatcgaaa ggaatggtta
     2101 actaatttca tggaggatag aagacaacga aagttacttg ggcttcctga ggattacttg
     2161 tatggacaaa ctaccacata tctgacatat aatgacttca tcaacaagga acttatcttg
     2221 ttctcaaatt ctgataacga gagatctatc ccttctatgg tggatggttt gaaaccaggt
     2281 cagagaaagg ttttgtttac ttgcttcaaa cggaatgaca agcgagaagt aaaggttgcc
     2341 caattagctg gatcagtggc tgaaatgtct tcttatcatc atggtgagat gtcactaatg
     2401 atgaccatta tcaatttggc tcagaatttt gtgggtagca ataatctaaa cctcttgcag
     2461 cccattggtc agtttggtac caggctacat ggtggcaagg attctgctag tccacgatac
     2521 atctttacaa tgctcagctc tttggctcga ttgttatttc caccaaaaga tgatcacacg
     2581 ttgaagtttt tatatgatga caaccagcgt gttgagcctg aatggtacat tcctattatt
     2641 cccatggtgc tgataaatgg tgctgaagga atcggtactg ggtggtcctg caaaatcccc
     2701 aactttgatg tgcgtgaaat tgtaaataac atcaggcgtt tgatggatgg agaagaacct
     2761 ttgccaatgc ttccaagtta caagaacttc aagggtacta ttgaagaact ggctccaaat
     2821 caatatgtga ttagtggtga agtagctatt cttaattcta caaccattga aatctcagag
     2881 cttcccgtca gaacatggac ccagacatac aaagaacaag ttctagaacc catgttgaat
     2941 ggcaccgaga agacacctcc tctcataaca gactataggg aataccatac agataccact
     3001 gtgaaatttg ttgtgaagat gactgaagaa aaactggcag aggcagagag agttggacta
     3061 cacaaagtct tcaaactcca aactagtctc acatgcaact ctatggtgct ttttgaccac
     3121 gtaggctgtt taaagaaata tgacacggtg ttggatattc taagagactt ttttgaactc
     3181 agacttaaat attatggatt aagaaaagaa tggctcctag gaatgcttgg tgctgaatct
     3241 gctaaactga ataatcaggc tcgctttatc ttagagaaaa tagatggcaa aataatcatt
     3301 gaaaataagc ctaagaaaga attaattaaa gttctgattc agaggggata tgattcggat
     3361 cctgtgaagg cctggaaaga agcccagcaa aaggttccag atgaagaaga aaatgaagag
     3421 agtgacaacg aaaaggaaac tgaaaagagt gactccgtaa cagattctgg accaaccttc
     3481 aactatcttc ttgatatgcc cctttggtat ttaaccaagg aaaagaaaga tgaactctgc
     3541 aggctaagaa atgaaaaaga acaagagctg gacacattaa aaagaaagag tccatcagat
     3601 ttgtggaaag aagacttggc tacatttatt gaagaattgg aggctgttga agccaaggaa
     3661 aaacaagatg aacaagtcgg acttcctggg aaagggggga aggccaaggg gaaaaaaaca
     3721 caaatggctg aagttttgcc ttctccgcgt ggtcaaagag tcattccacg aataaccata
     3781 gaaatgaaag cagaggcaga aaagaaaaat aaaaagaaaa ttaagaatga aaatactgaa
     3841 ggaagccctc aagaagatgg tgtggaacta gaaggcctaa aacaaagatt agaaaagaaa
     3901 cagaaaagag aaccaggtac aaagacaaag aaacaaacta cattggcatt taagccaatc
     3961 aaaaaaggaa agaagagaaa tccctggtct gattcagaat cagataggag cagtgacgaa
     4021 agtaattttg atgtccctcc acgagaaaca gagccacgga gagcagcaac aaaaacaaaa
     4081 ttcacaatgg atttggattc agatgaagat ttctcagatt ttgatgaaaa aactgatgat
     4141 gaagattttg tcccatcaga tgctagtcca cctaagacca aaacttcccc aaaacttagt
     4201 aacaaagaac tgaaaccaca gaaaagtgtc gtgtcagacc ttgaagctga tgatgttaag
     4261 ggcagtgtac cactgtcttc aagccctcct gctacacatt tcccagatga aactgaaatt
     4321 acaaacccag ttcctaaaaa gaatgtgaca gtgaagaaga cagcagcaaa aagtcagtct
     4381 tccacctcca ctaccggtgc caaaaaaagg gctgccccaa aaggaactaa aagggatcca
     4441 gctttgaatt ctggtgtctc tcaaaagcct gatcctgcca aaaccaagaa tcgccgcaaa
     4501 aggaagccat ccacttctga tgattctgac tctaattttg agaaaattgt ttcgaaagca
     4561 gtcacaagca agaaatccaa gggggagagt gatgacttcc atatggactt tgactcagct
     4621 gtggctcctc gggcaaaatc tgtacgggca aagaaaccta taaagtacct ggaagagtca
     4681 gatgaagatg atctgtttta aaatgtgagg cgattatttt aagtaattat cttaccaagc
     4741 ccaagactgg ttttaaagtt acctgaagct cttaacttcc tcccctctga atttagtttg
     4801 gggaaggtgt ttttagtaca agacatcaaa gtgaagtaaa gcccaagtgt tctttagctt
     4861 tttataatac tgtctaaata gtgaccatct catgggcatt gttttcttct ctgctttgtc
     4921 tgtgttttga gtctgctttc ttttgtcttt aaaacctgat ttttaagttc ttctgaactg
     4981 tagaaatagc tatctgatca cttcagcgta aagcagtgtg tttattaacc atccactaag
     5041 ctaaaactag agcagtttga tttaaaagtg tcactcttcc tccttttcta ctttcagtag
     5101 atatgagata gagcataatt atctgtttta tcttagtttt atacataatt taccatcaga
     5161 tagaacttta tggttctagt acagatactc tactacactc agcctcttat gtgccaagtt
     5221 tttctttaag caatgagaaa ttgctcatgt tcttcatctt ctcaaatcat cagaggccga
     5281 agaaaaacac tttggctgtg tctataactt gacacagtca atagaatgaa gaaaattaga
     5341 gtagttatgt gattatttca gctcttgacc tgtcccctct ggctgcctct gagtctgaat
     5401 ctcccaaaga gagaaaccaa tttctaagag gactggattg cagaagactc ggggacaaca
     5461 tttgatccaa gatcttaaat gttatattga taaccatgct cagcaatgag ctattagatt
     5521 cattttggga aatctccata atttcaattt gtaaactttg ttaagacctg tctacattgt
     5581 tatatgtgtg tgacttgagt aatgttatca acgtttttgt aaatatttac tatgtttttc
     5641 tattagctaa attccaacaa ttttgtactt taataaaatg ttctaaacat tgcaa
//
LOCUS       NM_001069               1616 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens tubulin beta 2A class IIa (TUBB2A), transcript variant
            1, mRNA.
ACCESSION   NM_001069
VERSION     NM_001069.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1616)
  AUTHORS   Schroter J, Syring H, Gohring G, Kolker S, Opladen T, Hoffmann GF,
            Syrbe S and Jung-Klawitter S.
  TITLE     Generation of an induced pluripotent stem cell line (DHMCi009-A)
            from an individual with TUBB2A tubulinopathy
  JOURNAL   Stem Cell Res 64, 102879 (2022)
   PUBMED   35930870
  REMARK    GeneRIF: Generation of an induced pluripotent stem cell line
            (DHMCi009-A) from an individual with TUBB2A tubulinopathy.
REFERENCE   2  (bases 1 to 1616)
  AUTHORS   Salokas K, Liu X, Ohman T, Chowdhury I, Gawriyski L, Keskitalo S and
            Varjosalo M.
  TITLE     Physical and functional interactome atlas of human receptor tyrosine
            kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   3  (bases 1 to 1616)
  AUTHORS   Ragoussis V, Pagnamenta AT, Haines RL, Giacopuzzi E, McClatchey MA,
            Sampson JR, Suri M, Gardham A, Cobben JM, Osio D, Fry AE and Taylor
            JC.
  CONSRTM   Genomics England Research Consortium
  TITLE     Using data from the 100,000 Genomes Project to resolve conflicting
            interpretations of a recurrent TUBB2A mutation
  JOURNAL   J Med Genet 59 (4), 366-369 (2022)
   PUBMED   33547136
  REMARK    GeneRIF: Using data from the 100,000 Genomes Project to resolve
            conflicting interpretations of a recurrent TUBB2A mutation.
REFERENCE   4  (bases 1 to 1616)
  AUTHORS   Jin Y, Zhang S and Liu L.
  TITLE     Circular RNA circ_C16orf62 Suppresses Cell Growth in Gastric Cancer
            by miR-421/Tubulin beta-2A Chain (TUBB2A) Axis
  JOURNAL   Med Sci Monit 26, e924343 (2020)
   PUBMED   33006960
  REMARK    GeneRIF: Circular RNA circ_C16orf62 Suppresses Cell Growth in
            Gastric Cancer by miR-421/Tubulin beta-2A Chain (TUBB2A) Axis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1616)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 1616)
  AUTHORS   Takahashi M, Tomizawa K, Sato K, Ohtake A and Omori A.
  TITLE     A novel tau-tubulin kinase from bovine brain
  JOURNAL   FEBS Lett 372 (1), 59-64 (1995)
   PUBMED   7556643
REFERENCE   7  (bases 1 to 1616)
  AUTHORS   Bahi-Buisson,N. and Maillard,C.
  TITLE     Tubulinopathies Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   27010057
REFERENCE   8  (bases 1 to 1616)
  AUTHORS   Horisberger MA.
  TITLE     Interferon-induced human protein MxA is a GTPase which binds
            transiently to cellular proteins
  JOURNAL   J Virol 66 (8), 4705-4709 (1992)
   PUBMED   1629950
REFERENCE   9  (bases 1 to 1616)
  AUTHORS   Wang,D., Villasante,A., Lewis,S.A. and Cowan,N.J.
  TITLE     The mammalian beta-tubulin repertoire: hematopoietic expression of a
            novel, heterologous beta-tubulin isotype
  JOURNAL   J Cell Biol 103 (5), 1903-1910 (1986)
   PUBMED   3782288
REFERENCE   10  (bases 1 to 1616)
  AUTHORS   Lee,M.G., Lewis,S.A., Wilde,C.D. and Cowan,N.J.
  TITLE     Evolutionary history of a multigene family: an expressed human
            beta-tubulin gene and three processed pseudogenes
  JOURNAL   Cell 33 (2), 477-487 (1983)
   PUBMED   6688039
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.53490.1,
            SRR3476690.1019106.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2154405,
            SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000333628.4/ ENSP00000369703.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031963.40, X79535.1 and
            AL038778.2.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001069.2.
            Summary: Microtubules, key participants in processes such as
            mitosis and intracellular transport, are composed of heterodimers
            of alpha- and beta-tubulins. The protein encoded by this gene is a
            beta-tubulin. Defects in this gene are associated with complex
            cortical dysplasia with other brain malformations-5. Two transcript
            variants encoding distinct isoforms have been found for this gene.
            [provided by RefSeq, Jul 2015].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1616
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.2"
     gene            1..1616
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /note="tubulin beta 2A class IIa"
                     /db_xref="GeneID:7280"
                     /db_xref="HGNC:HGNC:12412"
                     /db_xref="MIM:615101"
     CDS             82..1419
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     tubulin, beta polypeptide 2; class IIa beta-tubulin;
                     tubulin beta-2A chain; tubulin, beta 2A"
                     /codon_start=1
                     /product="tubulin beta-2A chain isoform 1"
                     /protein_id="NP_001060.1"
                     /db_xref="CCDS:CCDS4484.1"
                     /db_xref="GeneID:7280"
                     /db_xref="HGNC:HGNC:12412"
                     /db_xref="MIM:615101"
                     /translation="MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPTGSYHGDSDLQLE
                     RINVYYNEAAGNKYVPRAILVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKG
                     HYTEGAELVDSVLDVVRKESESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEYPDRI
                     MNTFSVMPSPKVSDTVVEPYNATLSVHQLVENTDETYSIDNEALYDICFRTLKLTTPTY
                     GDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQY
                     RALTVPELTQQMFDSKNMMAACDPRHGRYLTVAAIFRGRMSMKEVDEQMLNVQNKNSSY
                     FVEWIPNNVKTAVCDIPPRGLKMSATFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYT
                     GEGMDEMEFTEAESNMNDLVSEYQQYQDATADEQGEFEEEEGEDEA"
     misc_feature    82..93
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13885.1);
                     Region: MREI motif. /evidence=ECO:0000250|UniProtKB:P07437"
     misc_feature    199..201
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P99024; propagated from
                     UniProtKB/Swiss-Prot (Q13885.1); phosphorylation site"
     misc_feature    253..255
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P07437; propagated from
                     UniProtKB/Swiss-Prot (Q13885.1); acetylation site"
     misc_feature    595..597
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /note="Phosphoserine, by CDK1.
                     /evidence=ECO:0000269|PubMed:16371510; propagated from
                     UniProtKB/Swiss-Prot (Q13885.1); phosphorylation site"
     misc_feature    934..936
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P07437; propagated from
                     UniProtKB/Swiss-Prot (Q13885.1); phosphorylation site"
     misc_feature    949..951
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P07437; propagated from
                     UniProtKB/Swiss-Prot (Q13885.1); phosphorylation site"
     misc_feature    1033..1035
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P07437; propagated from
                     UniProtKB/Swiss-Prot (Q13885.1); methylation site"
     misc_feature    1345..1416
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13885.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1594..1599
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /note="hexamer: AATAAA"
     polyA_site      1616
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /note="major polyA site"
ORIGIN
        1 aggtctctgc gcagcccagc ccgccggtcc acgccgcgca ccgctccgag ggccagcgcc
       61 acccgctccg cagccggcac catgcgcgag atcgtgcaca tccaggcggg ccagtgcggc
      121 aaccagatcg gcgccaagtt ttgggaggtc atcagcgatg agcatgggat cgaccccaca
      181 ggcagttacc atggagacag tgacttgcag ctggagagaa tcaacgtgta ctacaatgag
      241 gctgctggta acaaatatgt acctcgggcc atcctggtgg atctggagcc tggcaccatg
      301 gactctgtca ggtctggacc cttcggccag atcttcagac cagacaactt cgtgttcggc
      361 cagagtggag ccgggaataa ctgggccaag ggccactaca cagagggagc cgagctggtc
      421 gactcggtcc tggatgtggt gaggaaggag tcagagagct gtgactgtct ccagggcttc
      481 cagctgaccc actctctggg gggcggcacg gggtccggga tgggcaccct gctcatcagc
      541 aagatccggg aagagtaccc agaccgcatc atgaacacct tcagcgtcat gccctcaccc
      601 aaggtgtcag acacggtggt ggagccctac aacgccaccc tctctgtcca ccagctggtg
      661 gaaaacacag atgaaaccta ctccattgat aacgaggccc tgtatgacat ctgcttccgc
      721 accctgaagc tgaccacccc cacctacggg gacctcaacc acctggtgtc ggccaccatg
      781 agcggggtca ccacctgcct gcgcttcccg ggccagctga acgcagacct gcgcaagctg
      841 gcggtgaaca tggtgccctt ccctcgcctg cacttcttca tgcccggctt cgcgcccctg
      901 accagccggg gcagccagca gtaccgggcg ctcacggtgc ccgagctcac ccagcagatg
      961 ttcgactcca agaacatgat ggccgcctgc gacccgcgcc acggccgcta cctgacggtg
     1021 gctgccatct tccggggccg catgtccatg aaggaggtgg acgagcagat gctcaacgtg
     1081 cagaacaaga acagcagcta cttcgtggag tggatcccca acaacgtgaa gacggccgtg
     1141 tgcgacatcc cgccccgcgg cctgaagatg tcggccacct tcatcggcaa cagcacggcc
     1201 atccaggagc tgttcaagcg catctccgag cagttcacgg ccatgttccg gcgcaaggcc
     1261 ttcctgcact ggtacacggg cgagggcatg gacgagatgg agttcaccga ggccgagagc
     1321 aacatgaacg acctggtgtc cgagtaccag cagtaccagg acgccacggc cgacgaacaa
     1381 ggggagttcg aggaggagga gggcgaggac gaggcttaaa aacttctcag atcaatcgtg
     1441 catccttagt gaacttctgt tgtcctcaag catggtcttt ctacttgtaa actatggtgc
     1501 tcagttttgc ctctgttaga aattcacact gttgatgtaa tgatgtggaa ctcctctaaa
     1561 aattacagta ttgtctgtga aggtatctat actaataaaa aagcatgtgt agaaaa
//
LOCUS       NM_001070               1608 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens tubulin gamma 1 (TUBG1), mRNA.
ACCESSION   NM_001070
VERSION     NM_001070.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1608)
  AUTHORS   Malycheva D and Alvarado-Kristensson M.
  TITLE     Centrosome Movements Are TUBG1-Dependent
  JOURNAL   Int J Mol Sci 24 (17), 13154 (2023)
   PUBMED   37685969
  REMARK    GeneRIF: Centrosome Movements Are TUBG1-Dependent. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1608)
  AUTHORS   Wang ZJ, Dai ZZ, Hu MZ, Liu JN, Liang H, Shen MM, Zhu SJ, Sheng HJ,
            Gao J, Huang AL and Tang KF.
  TITLE     Upregulation of TUBG1 expression promotes hepatocellular carcinoma
            development
  JOURNAL   Med Oncol 40 (3), 96 (2023)
   PUBMED   36792863
  REMARK    GeneRIF: Upregulation of TUBG1 expression promotes hepatocellular
            carcinoma development. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1608)
  AUTHORS   Tsuchiya K and Goshima G.
  TITLE     Microtubule-associated proteins promote microtubule generation in
            the absence of gamma-tubulin in human colon cancer cells
  JOURNAL   J Cell Biol 220 (12) (2021)
   PUBMED   34779859
  REMARK    GeneRIF: Microtubule-associated proteins promote microtubule
            generation in the absence of gamma-tubulin in human colon cancer
            cells.
REFERENCE   4  (bases 1 to 1608)
  AUTHORS   Wieczorek M, Ti SC, Urnavicius L, Molloy KR, Aher A, Chait BT and
            Kapoor TM.
  TITLE     Biochemical reconstitutions reveal principles of human gamma-TuRC
            assembly and function
  JOURNAL   J Cell Biol 220 (3) (2021)
   PUBMED   33496729
  REMARK    GeneRIF: Biochemical reconstitutions reveal principles of human
            gamma-TuRC assembly and function.
REFERENCE   5  (bases 1 to 1608)
  AUTHORS   Bucko PJ, Garcia I, Manocha R, Bhat A, Wordeman L and Scott JD.
  TITLE     Gravin-associated kinase signaling networks coordinate gamma-tubulin
            organization at mitotic spindle poles
  JOURNAL   J Biol Chem 295 (40), 13784-13797 (2020)
   PUBMED   32732289
  REMARK    GeneRIF: Gravin-associated kinase signaling networks coordinate
            gamma-tubulin organization at mitotic spindle poles.
REFERENCE   6  (bases 1 to 1608)
  AUTHORS   Kapeller R, Toker A, Cantley LC and Carpenter CL.
  TITLE     Phosphoinositide 3-kinase binds constitutively to alpha/beta-tubulin
            and binds to gamma-tubulin in response to insulin
  JOURNAL   J Biol Chem 270 (43), 25985-25991 (1995)
   PUBMED   7592789
REFERENCE   7  (bases 1 to 1608)
  AUTHORS   Rommens JM, Durocher F, McArthur J, Tonin P, LeBlanc JF, Allen T,
            Samson C, Ferri L, Narod S, Morgan K et al.
  TITLE     Generation of a transcription map at the HSD17B locus centromeric to
            BRCA1 at 17q21
  JOURNAL   Genomics 28 (3), 530-542 (1995)
   PUBMED   7490091
REFERENCE   8  (bases 1 to 1608)
  AUTHORS   Golsteyn RM, Mundt KE, Fry AM and Nigg EA.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
REFERENCE   9  (bases 1 to 1608)
  AUTHORS   Bahi-Buisson,N. and Maillard,C.
  TITLE     Tubulinopathies Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   27010057
REFERENCE   10  (bases 1 to 1608)
  AUTHORS   Zheng Y, Jung MK and Oakley BR.
  TITLE     Gamma-tubulin is present in Drosophila melanogaster and Homo sapiens
            and is associated with the centrosome
  JOURNAL   Cell 65 (5), 817-823 (1991)
   PUBMED   1904010
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.319742.1,
            SRR3476690.775721.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000251413.8/ ENSP00000251413.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC000619.2 and BG167819.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001070.4.
            Summary: This gene encodes a member of the tubulin superfamily. The
            encoded protein localizes to the centrosome where it binds to
            microtubules as part of a complex referred to as the gamma-tubulin
            ring complex. The protein mediates microtubule nucleation and is
            required for microtubule formation and progression of the cell
            cycle. A pseudogene of this gene is found on chromosome 7.
            [provided by RefSeq, Jan 2009].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1608
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..1608
                     /gene="TUBG1"
                     /gene_synonym="CDCBM4; GCP-1; TUBG; TUBGCP1"
                     /note="tubulin gamma 1"
                     /db_xref="GeneID:7283"
                     /db_xref="HGNC:HGNC:12417"
                     /db_xref="MIM:191135"
     misc_feature    47..49
                     /gene="TUBG1"
                     /gene_synonym="CDCBM4; GCP-1; TUBG; TUBGCP1"
                     /note="upstream in-frame stop codon"
     CDS             56..1411
                     /gene="TUBG1"
                     /gene_synonym="CDCBM4; GCP-1; TUBG; TUBGCP1"
                     /note="tubulin, gamma polypeptide; gamma-tubulin complex
                     component 1"
                     /codon_start=1
                     /product="tubulin gamma-1 chain"
                     /protein_id="NP_001061.2"
                     /db_xref="CCDS:CCDS11433.1"
                     /db_xref="GeneID:7283"
                     /db_xref="HGNC:HGNC:12417"
                     /db_xref="MIM:191135"
                     /translation="MPREIITLQLGQCGNQIGFEFWKQLCAEHGISPEGIVEEFATEGT
                     DRKDVFFYQADDEHYIPRAVLLDLEPRVIHSILNSPYAKLYNPENIYLSEHGGGAGNNW
                     ASGFSQGEKIHEDIFDIIDREADGSDSLEGFVLCHSIAGGTGSGLGSYLLERLNDRYPK
                     KLVQTYSVFPNQDEMSDVVVQPYNSLLTLKRLTQNADCVVVLDNTALNRIATDRLHIQN
                     PSFSQINQLVSTIMSASTTTLRYPGYMNNDLIGLIASLIPTPRLHFLMTGYTPLTTDQS
                     VASVRKTTVLDVMRRLLQPKNVMVSTGRDRQTNHCYIAILNIIQGEVDPTQVHKSLQRI
                     RERKLANFIPWGPASIQVALSRKSPYLPSAHRVSGLMMANHTSISSLFERTCRQYDKLR
                     KREAFLEQFRKEDMFKDNFDEMDTSREIVQQLIDEYHAATRPDYISWGTQEQ"
     misc_feature    446..448
                     /gene="TUBG1"
                     /gene_synonym="CDCBM4; GCP-1; TUBG; TUBGCP1"
                     /note="Phosphoserine, by BRSK1.
                     /evidence=ECO:0000250|UniProtKB:P83887; propagated from
                     UniProtKB/Swiss-Prot (P23258.2); phosphorylation site"
     regulatory      1585..1590
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBG1"
                     /gene_synonym="CDCBM4; GCP-1; TUBG; TUBGCP1"
                     /note="hexamer: AATAAA"
     polyA_site      1608
                     /gene="TUBG1"
                     /gene_synonym="CDCBM4; GCP-1; TUBG; TUBGCP1"
                     /note="major polyA site"
ORIGIN
        1 ggcgtgcggc gccgttgcgg gcgggagcgg ctgcaacgcc ggtgcctgag gagcgatgcc
       61 gagggaaatc atcaccctac agttgggcca gtgcggcaat cagattgggt tcgagttctg
      121 gaaacagctg tgcgccgagc atggtatcag ccccgagggc atcgtggagg agttcgccac
      181 cgagggcact gaccgcaagg acgtcttttt ctaccaggca gacgatgagc actacatccc
      241 ccgggccgtg ctgctggact tggaaccccg ggtgatccac tccatcctca actcccccta
      301 tgccaagctc tacaacccag agaacatcta cctgtcggaa catggaggag gagctggcaa
      361 caactgggcc agcggattct cccagggaga aaagatccat gaggacattt ttgacatcat
      421 agaccgggag gcagatggta gtgacagtct agagggcttt gtgctgtgtc actccattgc
      481 tggggggaca ggctctggac tgggttccta cctcttagaa cggctgaatg acaggtatcc
      541 taagaagctg gtgcagacat actcagtgtt tcccaaccag gacgagatga gcgatgtggt
      601 ggtccagcct tacaattcac tcctcacact caagaggctg acgcagaatg cagactgtgt
      661 ggtggtgctg gacaacacag ccctgaaccg gattgccaca gaccgcctgc acatccagaa
      721 cccatccttc tcccagatca accagctggt gtctaccatc atgtcagcca gcaccaccac
      781 cctgcgctac cctggctaca tgaacaatga cctcatcggc ctcatcgcct cgctcattcc
      841 caccccacgg ctccacttcc tcatgaccgg ctacacccct ctcactacgg accagtcagt
      901 ggccagcgtg aggaagacca cggtcctgga tgtcatgagg cggctgctgc agcccaagaa
      961 cgtgatggtg tccacaggcc gagaccgcca gaccaaccac tgctacatcg ccatcctcaa
     1021 catcatccag ggagaggtgg accccaccca ggtccacaag agcttgcaga ggatccggga
     1081 acgcaagttg gccaacttca tcccgtgggg ccccgccagc atccaggtgg ccctgtcgag
     1141 gaagtctccc tacctgccct cggcccaccg ggtcagcggg ctcatgatgg ccaaccacac
     1201 cagcatctcc tcgctcttcg agagaacctg tcgccagtat gacaagctgc gtaagcggga
     1261 ggccttcctg gagcagttcc gcaaggagga catgttcaag gacaactttg atgagatgga
     1321 cacatccagg gagattgtgc agcagctcat cgatgagtac catgcggcca cacggccaga
     1381 ctacatctcc tggggcaccc aggagcagtg agtcccccag gacagggacc ctcatctgcc
     1441 ttactggttg gcccaagccc tgcctgactg accaccccct cagagcacag atcagggacc
     1501 tcacgcatct ctttctcata tacatggact ctctgttggc ctgcaaacac atttacttct
     1561 cctcttatga gactatttat ctttaataaa gcactggata taaatcaa
//
LOCUS       NM_001071               1613 bp    mRNA    linear   PRI 03-SEP-2023
DEFINITION  Homo sapiens thymidylate synthetase (TYMS), transcript variant 1,
            mRNA.
ACCESSION   NM_001071
VERSION     NM_001071.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1613)
  AUTHORS   Kim JO, Ryu CS, Lee JY, Ko EJ, Ha YH, Sung JH, Hwang TS, Kim IJ and
            Kim NK.
  TITLE     Association of Thymidylate Synthase (TS) Gene Polymorphisms with
            Incidence and Prognosis of Coronary Artery Disease
  JOURNAL   Int J Mol Sci 24 (16), 12591 (2023)
   PUBMED   37628769
  REMARK    GeneRIF: Association of Thymidylate Synthase (TS) Gene Polymorphisms
            with Incidence and Prognosis of Coronary Artery Disease. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1613)
  AUTHORS   Guijarro MV, Nawab A, Dib P, Burkett S, Luo X, Feely M, Nasri E,
            Seifert RP, Kaye FJ and Zajac-Kaye M.
  TITLE     TYMS promotes genomic instability and tumor progression in Ink4a/Arf
            null background
  JOURNAL   Oncogene 42 (23), 1926-1939 (2023)
   PUBMED   37106126
  REMARK    GeneRIF: TYMS promotes genomic instability and tumor progression in
            Ink4a/Arf null background.
REFERENCE   3  (bases 1 to 1613)
  AUTHORS   Hisatomi H, Tanemura H, Iizuka T, Katsumata K, Nagao K, Sumida H,
            Udagawa H and Hikiji K.
  TITLE     Differential alternative splicing expressions of thymidylate
            synthase isoforms
  JOURNAL   Cancer Lett 193 (2), 127-131 (2003)
   PUBMED   12706868
REFERENCE   4  (bases 1 to 1613)
  AUTHORS   Chu J and Dolnick BJ.
  TITLE     Natural antisense (rTSalpha) RNA induces site-specific cleavage of
            thymidylate synthase mRNA
  JOURNAL   Biochim Biophys Acta 1587 (2-3), 183-193 (2002)
   PUBMED   12084460
  REMARK    GeneRIF: rTS gene expression likely plays a role in down-regulating
            TS through a natural RNA-based antisense mechanism. Review. Review
            article
REFERENCE   5  (bases 1 to 1613)
  AUTHORS   Schiffer CA, Clifton IJ, Davisson VJ, Santi DV and Stroud RM.
  TITLE     Crystal structure of human thymidylate synthase: a structural
            mechanism for guiding substrates into the active site
  JOURNAL   Biochemistry 34 (50), 16279-16287 (1995)
   PUBMED   8845352
REFERENCE   6  (bases 1 to 1613)
  AUTHORS   Johnston PG, Liang CM, Henry S, Chabner BA and Allegra CJ.
  TITLE     Production and characterization of monoclonal antibodies that
            localize human thymidylate synthase in the cytoplasm of human cells
            and tissue
  JOURNAL   Cancer Res 51 (24), 6668-6676 (1991)
   PUBMED   1720706
REFERENCE   7  (bases 1 to 1613)
  AUTHORS   Chu E, Koeller DM, Casey JL, Drake JC, Chabner BA, Elwood PC, Zinn S
            and Allegra CJ.
  TITLE     Autoregulation of human thymidylate synthase messenger RNA
            translation by thymidylate synthase
  JOURNAL   Proc Natl Acad Sci U S A 88 (20), 8977-8981 (1991)
   PUBMED   1924359
REFERENCE   8  (bases 1 to 1613)
  AUTHORS   Kaneda S, Nalbantoglu J, Takeishi K, Shimizu K, Gotoh O, Seno T and
            Ayusawa D.
  TITLE     Structural and functional analysis of the human thymidylate synthase
            gene
  JOURNAL   J Biol Chem 265 (33), 20277-20284 (1990)
   PUBMED   2243092
REFERENCE   9  (bases 1 to 1613)
  AUTHORS   Takeishi K, Kaneda S, Ayusawa D, Shimizu K, Gotoh O and Seno T.
  TITLE     Human thymidylate synthase gene: isolation of phage clones which
            cover a functionally active gene and structural analysis of the
            region upstream from the translation initiation codon
  JOURNAL   J Biochem 106 (4), 575-583 (1989)
   PUBMED   2532645
REFERENCE   10  (bases 1 to 1613)
  AUTHORS   Takeishi,K., Kaneda,S., Ayusawa,D., Shimizu,K., Gotoh,O. and Seno,T.
  TITLE     Nucleotide sequence of a functional cDNA for human thymidylate
            synthase
  JOURNAL   Nucleic Acids Res 13 (6), 2035-2043 (1985)
   PUBMED   2987839
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.118090.1,
            SRR1163658.307472.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match :: ENST00000323274.15/ ENSP00000315644.10
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY016886.1, AK223372.1,
            BC018858.2, BC083512.1 and HY269620.1.
            On Nov 23, 2018 this sequence version replaced NM_001071.3.
            Summary: Thymidylate synthase catalyzes the methylation of
            deoxyuridylate to deoxythymidylate using,
            10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This
            function maintains the dTMP (thymidine-5-prime monophosphate) pool
            critical for DNA replication and repair. The enzyme has been of
            interest as a target for cancer chemotherapeutic agents. It is
            considered to be the primary site of action for 5-fluorouracil,
            5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression
            of this gene and that of a naturally occurring antisense
            transcript, mitochondrial enolase superfamily member 1
            (GeneID:55556), vary inversely when cell-growth progresses from
            late-log to plateau phase. Polymorphisms in this gene may be
            associated with etiology of neoplasia, including breast cancer, and
            response to chemotherapy. [provided by RefSeq, Aug 2017].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1613
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.32"
     gene            1..1613
                     /gene="TYMS"
                     /gene_synonym="DKCD; HST422; TMS; TS"
                     /note="thymidylate synthetase"
                     /db_xref="GeneID:7298"
                     /db_xref="HGNC:HGNC:12441"
                     /db_xref="MIM:188350"
     CDS             91..1032
                     /gene="TYMS"
                     /gene_synonym="DKCD; HST422; TMS; TS"
                     /EC_number="2.1.1.45"
                     /note="isoform 1 is encoded by transcript variant 1; TSase"
                     /codon_start=1
                     /product="thymidylate synthase isoform 1"
                     /protein_id="NP_001062.1"
                     /db_xref="CCDS:CCDS11821.1"
                     /db_xref="GeneID:7298"
                     /db_xref="HGNC:HGNC:12441"
                     /db_xref="MIM:188350"
                     /translation="MPVAGSELPRRPLPPAAQERDAEPRPPHGELQYLGQIQHILRCGV
                     RKDDRTGTGTLSVFGMQARYSLRDEFPLLTTKRVFWKGVLEELLWFIKGSTNAKELSSK
                     GVKIWDANGSRDFLDSLGFSTREEGDLGPVYGFQWRHFGAEYRDMESDYSGQGVDQLQR
                     VIDTIKTNPDDRRIIMCAWNPRDLPLMALPPCHALCQFYVVNSELSCQLYQRSGDMGLG
                     VPFNIASYALLTYMIAHITGLKPGDFIHTLGDAHIYLNHIEPLKIQLQREPRPFPKLRI
                     LRKVEKIDDFKAEDFQIEGYNPHPTIKMEMAV"
     misc_feature    91..174
                     /gene="TYMS"
                     /gene_synonym="DKCD; HST422; TMS; TS"
                     /note="propagated from UniProtKB/Swiss-Prot (P04818.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    430..432
                     /gene="TYMS"
                     /gene_synonym="DKCD; HST422; TMS; TS"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P04818.3); phosphorylation site"
     regulatory      1510..1515
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TYMS"
                     /gene_synonym="DKCD; HST422; TMS; TS"
                     /note="hexamer: AATAAA"
     polyA_site      1534
                     /gene="TYMS"
                     /gene_synonym="DKCD; HST422; TMS; TS"
                     /note="major polyA site"
     regulatory      1590..1595
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TYMS"
                     /gene_synonym="DKCD; HST422; TMS; TS"
                     /note="hexamer: ATTAAA"
     polyA_site      1613
                     /gene="TYMS"
                     /gene_synonym="DKCD; HST422; TMS; TS"
ORIGIN
        1 acttggcctg cctccgtccc gccgcgccac ttggcctgcc tccgtcccgc cgcgccactt
       61 cgcctgcctc cgtcccccgc ccgccgcgcc atgcctgtgg ccggctcgga gctgccgcgc
      121 cggcccttgc cccccgccgc acaggagcgg gacgccgagc cgcgtccgcc gcacggggag
      181 ctgcagtacc tggggcagat ccaacacatc ctccgctgcg gcgtcaggaa ggacgaccgc
      241 acgggcaccg gcaccctgtc ggtattcggc atgcaggcgc gctacagcct gagagatgaa
      301 ttccctctgc tgacaaccaa acgtgtgttc tggaagggtg ttttggagga gttgctgtgg
      361 tttatcaagg gatccacaaa tgctaaagag ctgtcttcca agggagtgaa aatctgggat
      421 gccaatggat cccgagactt tttggacagc ctgggattct ccaccagaga agaaggggac
      481 ttgggcccag tttatggctt ccagtggagg cattttgggg cagaatacag agatatggaa
      541 tcagattatt caggacaggg agttgaccaa ctgcaaagag tgattgacac catcaaaacc
      601 aaccctgacg acagaagaat catcatgtgc gcttggaatc caagagatct tcctctgatg
      661 gcgctgcctc catgccatgc cctctgccag ttctatgtgg tgaacagtga gctgtcctgc
      721 cagctgtacc agagatcggg agacatgggc ctcggtgtgc ctttcaacat cgccagctac
      781 gccctgctca cgtacatgat tgcgcacatc acgggcctga agccaggtga ctttatacac
      841 actttgggag atgcacatat ttacctgaat cacatcgagc cactgaaaat tcagcttcag
      901 cgagaaccca gacctttccc aaagctcagg attcttcgaa aagttgagaa aattgatgac
      961 ttcaaagctg aagactttca gattgaaggg tacaatccgc atccaactat taaaatggaa
     1021 atggctgttt agggtgcttt caaaggagct cgaaggatat tgtcagtctt taggggttgg
     1081 gctggatgcc gaggtaaaag ttctttttgc tctaaaagaa aaaggaacta ggtcaaaaat
     1141 ctgtccgtga cctatcagtt attaattttt aaggatgttg ccactggcaa atgtaactgt
     1201 gccagttctt tccataataa aaggctttga gttaactcac tgagggtatc tgacaatgct
     1261 gaggttatga acaaagtgag gagaatgaaa tgtatgtgct cttagcaaaa acatgtatgt
     1321 gcatttcaat cccacgtact tataaagaag gttggtgaat ttcacaagct atttttggaa
     1381 tatttttaga atattttaag aatttcacaa gctattccct caaatctgag ggagctgagt
     1441 aacaccatcg atcatgatgt agagtgtggt tatgaacttt aaagttatag ttgttttata
     1501 tgttgctata ataaagaagt gttctgcatt cgtccacgct ttgttcattc tgtactgcca
     1561 cttatctgct cagttccttc ctaaaataga ttaaagaact ctccttaagt aaa
//
LOCUS       NM_001071775            2231 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens mitotic spindle organizing protein 1 (MZT1), mRNA.
ACCESSION   NM_001071775
VERSION     NM_001071775.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2231)
  AUTHORS   Wieczorek M, Huang TL, Urnavicius L, Hsia KC and Kapoor TM.
  TITLE     MZT Proteins Form Multi-Faceted Structural Modules in the
            gamma-Tubulin Ring Complex
  JOURNAL   Cell Rep 31 (13), 107791 (2020)
   PUBMED   32610146
  REMARK    GeneRIF: MZT Proteins Form Multi-Faceted Structural Modules in the
            gamma-Tubulin Ring Complex.
REFERENCE   2  (bases 1 to 2231)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2231)
  AUTHORS   Cukier CD, Tourdes A, El-Mazouni D, Guillet V, Nomme J, Mourey L,
            Milon A, Merdes A and Gervais V.
  TITLE     NMR secondary structure and interactions of recombinant human
            MOZART1 protein, a component of the gamma-tubulin complex
  JOURNAL   Protein Sci 26 (11), 2240-2248 (2017)
   PUBMED   28851027
  REMARK    GeneRIF: NMR secondary structure and interactions of recombinant
            human MOZART1 protein with its binding partner, GCP3, has been
            presented.
REFERENCE   4  (bases 1 to 2231)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 2231)
  AUTHORS   Cota RR, Teixido-Travesa N, Ezquerra A, Eibes S, Lacasa C, Roig J
            and Luders J.
  TITLE     MZT1 regulates microtubule nucleation by linking gammaTuRC assembly
            to adapter-mediated targeting and activation
  JOURNAL   J Cell Sci 130 (2), 406-419 (2017)
   PUBMED   27852835
  REMARK    GeneRIF: MZT1 is a 'priming factor' for gamma-tubulin ring complex
            that allows spatial regulation of nucleation.
REFERENCE   6  (bases 1 to 2231)
  AUTHORS   Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA,
            Weisswange I, Mansfeld J, Buchholz F, Hyman AA and Mann M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   7  (bases 1 to 2231)
  AUTHORS   Stewart SE, Yu D, Scharf JM, Neale BM, Fagerness JA, Mathews CA,
            Arnold PD, Evans PD, Gamazon ER, Davis LK, Osiecki L, McGrath L,
            Haddad S, Crane J, Hezel D, Illman C, Mayerfeld C, Konkashbaev A,
            Liu C, Pluzhnikov A, Tikhomirov A, Edlund CK, Rauch SL, Moessner R,
            Falkai P, Maier W, Ruhrmann S, Grabe HJ, Lennertz L, Wagner M,
            Bellodi L, Cavallini MC, Richter MA, Cook EH Jr, Kennedy JL,
            Rosenberg D, Stein DJ, Hemmings SM, Lochner C, Azzam A, Chavira DA,
            Fournier E, Garrido H, Sheppard B, Umana P, Murphy DL, Wendland JR,
            Veenstra-VanderWeele J, Denys D, Blom R, Deforce D, Van Nieuwerburgh
            F, Westenberg HG, Walitza S, Egberts K, Renner T, Miguel EC, Cappi
            C, Hounie AG, Conceicao do Rosario M, Sampaio AS, Vallada H,
            Nicolini H, Lanzagorta N, Camarena B, Delorme R, Leboyer M, Pato CN,
            Pato MT, Voyiaziakis E, Heutink P, Cath DC, Posthuma D, Smit JH,
            Samuels J, Bienvenu OJ, Cullen B, Fyer AJ, Grados MA, Greenberg BD,
            McCracken JT, Riddle MA, Wang Y, Coric V, Leckman JF, Bloch M,
            Pittenger C, Eapen V, Black DW, Ophoff RA, Strengman E, Cusi D,
            Turiel M, Frau F, Macciardi F, Gibbs JR, Cookson MR, Singleton A,
            Hardy J, Crenshaw AT, Parkin MA, Mirel DB, Conti DV, Purcell S,
            Nestadt G, Hanna GL, Jenike MA, Knowles JA, Cox N and Pauls DL.
  CONSRTM   North American Brain Expression Consortium; UK Brain Expression
            Database
  TITLE     Genome-wide association study of obsessive-compulsive disorder
  JOURNAL   Mol Psychiatry 18 (7), 788-798 (2013)
   PUBMED   22889921
  REMARK    Erratum:[Mol Psychiatry. 2013 Jul;18(7):843. Davis, L K [added]]
REFERENCE   8  (bases 1 to 2231)
  AUTHORS   Janski N, Masoud K, Batzenschlager M, Herzog E, Evrard JL, Houlne G,
            Bourge M, Chaboute ME and Schmit AC.
  TITLE     The GCP3-interacting proteins GIP1 and GIP2 are required for
            gamma-tubulin complex protein localization, spindle integrity, and
            chromosomal stability
  JOURNAL   Plant Cell 24 (3), 1171-1187 (2012)
   PUBMED   22427335
REFERENCE   9  (bases 1 to 2231)
  AUTHORS   Hutchins JR, Toyoda Y, Hegemann B, Poser I, Heriche JK, Sykora MM,
            Augsburg M, Hudecz O, Buschhorn BA, Bulkescher J, Conrad C, Comartin
            D, Schleiffer A, Sarov M, Pozniakovsky A, Slabicki MM, Schloissnig
            S, Steinmacher I, Leuschner M, Ssykor A, Lawo S, Pelletier L, Stark
            H, Nasmyth K, Ellenberg J, Durbin R, Buchholz F, Mechtler K, Hyman
            AA and Peters JM.
  TITLE     Systematic analysis of human protein complexes identifies chromosome
            segregation proteins
  JOURNAL   Science 328 (5978), 593-599 (2010)
   PUBMED   20360068
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.198352.1,
            SRR1660805.180025.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000377818.4/ ENSP00000367049.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC125183.1, AK025522.1 and AL356754.18.
            On Nov 22, 2018 this sequence version replaced NM_001071775.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2231
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q21.33"
     gene            1..2231
                     /gene="MZT1"
                     /gene_synonym="C13orf37; MOZART1"
                     /note="mitotic spindle organizing protein 1"
                     /db_xref="GeneID:440145"
                     /db_xref="HGNC:HGNC:33830"
                     /db_xref="MIM:613448"
     CDS             28..276
                     /gene="MZT1"
                     /gene_synonym="C13orf37; MOZART1"
                     /note="mitotic-spindle organizing protein associated with a
                     ring of gamma-tubulin 1"
                     /codon_start=1
                     /product="mitotic-spindle organizing protein 1"
                     /protein_id="NP_001065243.1"
                     /db_xref="CCDS:CCDS31990.1"
                     /db_xref="GeneID:440145"
                     /db_xref="HGNC:HGNC:33830"
                     /db_xref="MIM:613448"
                     /translation="MASSSGAGAAAAAAAANLNAVRETMDVLLEISRILNTGLDMETLS
                     ICVRLCEQGINPEALSSVIKELRKATEALKAAENMTS"
     misc_feature    31..33
                     /gene="MZT1"
                     /gene_synonym="C13orf37; MOZART1"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q08AG7.2); acetylation site"
     regulatory      2211..2216
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MZT1"
                     /gene_synonym="C13orf37; MOZART1"
                     /note="hexamer: AATAAA"
     polyA_site      2231
                     /gene="MZT1"
                     /gene_synonym="C13orf37; MOZART1"
                     /note="major polyA site"
ORIGIN
        1 cttctcccgc ctccctcggc cttagccatg gcgagtagca gcggtgctgg ggcggcggcg
       61 gcggccgcgg cggcgaatct gaatgcggtg cgggagacca tggacgttct gcttgagatt
      121 tcaagaattt tgaatactgg cttagatatg gaaactctgt ctatttgtgt acggctttgt
      181 gaacaaggaa ttaacccaga agctttatca tcggttatta aggagcttcg caaggctact
      241 gaagcactga aggctgctga aaatatgaca agctgacttt ctggagaaat tctgatgaga
      301 tatgtcaagc tctgcaagag ggtttgaaga ttgcattgta gttgagaatg tacaatgaaa
      361 ttactgcatg cagcagtgta gaaaaatttt actttttaaa agaattataa aaccatagct
      421 ttataaatca gtggaaagtg gcttacagag agaactatca gatgtgttta catcacatct
      481 tattcacttt ttttaacagc tctaatgctt tggcattgct atgttcatat ttatgtattc
      541 cttatttata gctctgatag ctttaatttt ctaagcagtc tgtctatcag atgtgcacat
      601 ctgctgtgcc aggttgaagt atagtggaac ccatcagtag taatgtgtag tagttatgac
      661 ttgttgacat ttccattata aactttaatt ttgaattgtt tatgcattat aactgtggat
      721 ttatattgta ttgggctgaa agttgacagg atttcagcca ccacttgtga atttttattt
      781 agattcatta tgtatatcag aatcttgttt tttgaaataa gagcatggaa aacatttctt
      841 gtaatctact cttgaacaaa gaatatttag tttttcaaac agtttgttgg gcagctaata
      901 gtgtgaacca ggtcattttt gtattgagta aaaaaatcaa actttgagaa acttggattt
      961 taaaagtaat gacaatgctt aggttagtat tatttgtaat ttgaatcatt tacatctaat
     1021 gagaatgtta gttgagaatg ttttcttaaa gttttatatc ctataaataa cggaataaaa
     1081 aaatttgtaa aatgaaacaa caaacatgca aaattcctat ttacttttat tacataaaag
     1141 taattttagt gcttacctaa taaatcttga atggttattt aataaattat tagatgggtg
     1201 atgtgtttca aaagatactt gctatttttt gaagaaataa ggatttccag tcattaaaca
     1261 aaactaaaca atcttattag atgggtgatg tgtttcaaag gatacttgct attttttgaa
     1321 gaaataagga tttccagtca ttaaacaaaa ctaaacaatc aaatgttcta tattaggaat
     1381 ctcaagtatg gcttttttta aaaaaccttt ttaacatctt gatgtcaagg attataagta
     1441 tggcttttca gaattgtttt gtttgtcatt attcttgcct ttaaaatttt aactcatcaa
     1501 agtgaagatt agaaataaat tttagaaaat gtagaatagt attgattctg ttcctgtaat
     1561 agaatctcag tggagttttt ttgcaaaact aatatggatt tcatctgatt ttattatttc
     1621 ttaaatttta gattttattg agtaccattt atatgattgt acaagcattc actctttact
     1681 agcatttttt gtttttcaga caagctgaag tggttttatt aagatttggt aatatttaaa
     1741 tagcaacctt ctctgccttt tttttttttt aatatagaat tttgaccatt ttgacttttt
     1801 aaatgcctgg catctttacc aaccaagtaa actggaagat ctgttactgg tagaacaggt
     1861 tgaggagaca gtaggaattt gtaaaaagtc atttgattta taatcaacac tacaaatact
     1921 atgtgttatt tataaaatca taaagaacac ttttgtcaga ctccaaaatt tgtatatact
     1981 tccaggccat aagagttgat agtattattt atgactttgt agattaagtt atttatgtat
     2041 gaaacaaagc aggaaaatat attgagaagg gatcgtgttt acagaggact tctttaaagt
     2101 gtcacatttt taaaatgtaa acatattttt aatgcatact taagtaatat ttaagaaact
     2161 aaacaaaata atgatacaat tgcagtgttg tgcttgttgt caatgacaaa aataaaacca
     2221 ttttggtggt a
//
LOCUS       NM_001072               2455 bp    mRNA    linear   PRI 19-JUN-2023
DEFINITION  Homo sapiens UDP glucuronosyltransferase family 1 member A6
            (UGT1A6), transcript variant 1, mRNA.
ACCESSION   NM_001072
VERSION     NM_001072.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2455)
  AUTHORS   Matsumoto J, Nishimoto A, Watari S, Ueki H, Shiromizu S, Iwata N,
            Takeda T, Ushio S, Kajizono M, Fujiyoshi M, Koyama T, Araki M, Wada
            K, Zamami Y, Nasu Y and Ariyoshi N.
  TITLE     Significance of UGT1A6, UGT1A9, and UGT2B7 genetic variants and
            their mRNA expression in the clinical outcome of renal cell
            carcinoma
  JOURNAL   Mol Cell Biochem 478 (8), 1779-1790 (2023)
   PUBMED   36571650
  REMARK    GeneRIF: Significance of UGT1A6, UGT1A9, and UGT2B7 genetic variants
            and their mRNA expression in the clinical outcome of renal cell
            carcinoma.
REFERENCE   2  (bases 1 to 2455)
  AUTHORS   Zheng XX, You YX, Zhao LL, Du Y, Xu SQ and Tang DQ.
  TITLE     Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma
            concentration of valproic acid in Chinese epilepsy patients
  JOURNAL   Pharmacogenomics 24 (3), 153-162 (2023)
   PUBMED   36718958
  REMARK    GeneRIF: Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on
            plasma concentration of valproic acid in Chinese epilepsy patients.
REFERENCE   3  (bases 1 to 2455)
  AUTHORS   Song,C., Li,X., Zhang,H., Bao,J., Lu,W., Peng,Q. and Zhang,Y.
  TITLE     Impact of MDR1 and UGT Gene Polymorphisms on Sodium Valproate Plasma
            Concentration in Patients with Epilepsy
  JOURNAL   Clin Lab 68 (10) (2022)
   PUBMED   36250837
  REMARK    GeneRIF: Impact of MDR1 and UGT Gene Polymorphisms on Sodium
            Valproate Plasma Concentration in Patients with Epilepsy.
REFERENCE   4  (bases 1 to 2455)
  AUTHORS   Nandith PB, Adiga U, Shenoy V and Adiga M N S.
  TITLE     UGT1A6 and UGT2B7 Gene Polymorphism and its Effect in Pediatric
            Epileptic Patients on Sodium Valproate Monotherapy
  JOURNAL   Indian J Pediatr 88 (8), 764-770 (2021)
   PUBMED   33400134
  REMARK    GeneRIF: UGT1A6 and UGT2B7 Gene Polymorphism and its Effect in
            Pediatric Epileptic Patients on Sodium Valproate Monotherapy.
REFERENCE   5  (bases 1 to 2455)
  AUTHORS   Du Z, Xu H, Zhao P, Wang J, Xu Q and Liu M.
  TITLE     Influence of UGT2B7 and UGT1A6 polymorphisms on plasma concentration
            to dose ratio of valproic acid in Chinese epileptic children
  JOURNAL   Xenobiotica 51 (7), 859-864 (2021)
   PUBMED   34000957
  REMARK    GeneRIF: Influence of UGT2B7 and UGT1A6 polymorphisms on plasma
            concentration to dose ratio of valproic acid in Chinese epileptic
            children.
REFERENCE   6  (bases 1 to 2455)
  AUTHORS   Bosma PJ, Chowdhury JR, Huang TJ, Lahiri P, Elferink RP, Van Es HH,
            Lederstein M, Whitington PF, Jansen PL and Chowdhury NR.
  TITLE     Mechanisms of inherited deficiencies of multiple
            UDP-glucuronosyltransferase isoforms in two patients with
            Crigler-Najjar syndrome, type I
  JOURNAL   FASEB J 6 (10), 2859-2863 (1992)
   PUBMED   1634050
REFERENCE   7  (bases 1 to 2455)
  AUTHORS   Ritter JK, Chen F, Sheen YY, Tran HM, Kimura S, Yeatman MT and Owens
            IS.
  TITLE     A novel complex locus UGT1 encodes human bilirubin, phenol, and
            other UDP-glucuronosyltransferase isozymes with identical carboxyl
            termini
  JOURNAL   J Biol Chem 267 (5), 3257-3261 (1992)
   PUBMED   1339448
REFERENCE   8  (bases 1 to 2455)
  AUTHORS   Ritter JK, Crawford JM and Owens IS.
  TITLE     Cloning of two human liver bilirubin UDP-glucuronosyltransferase
            cDNAs with expression in COS-1 cells
  JOURNAL   J Biol Chem 266 (2), 1043-1047 (1991)
   PUBMED   1898728
REFERENCE   9  (bases 1 to 2455)
  AUTHORS   Harding D, Jeremiah SJ, Povey S and Burchell B.
  TITLE     Chromosomal mapping of a human phenol UDP-glucuronosyltransferase,
            GNT1
  JOURNAL   Ann Hum Genet 54 (1), 17-21 (1990)
   PUBMED   2108603
REFERENCE   10  (bases 1 to 2455)
  AUTHORS   Harding D, Fournel-Gigleux S, Jackson MR and Burchell B.
  TITLE     Cloning and substrate specificity of a human phenol
            UDP-glucuronosyltransferase expressed in COS-7 cells
  JOURNAL   Proc Natl Acad Sci U S A 85 (22), 8381-8385 (1988)
   PUBMED   3141926
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC011409.1, AY435141.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000305139.11/ ENSP00000303174.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB014621.1, AY435141.1 and
            BE463503.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001072.3.
            Summary: This gene encodes a UDP-glucuronosyltransferase, an enzyme
            of the glucuronidation pathway that transforms small lipophilic
            molecules, such as steroids, bilirubin, hormones, and drugs, into
            water-soluble, excretable metabolites. This gene is part of a
            complex locus that encodes several UDP-glucuronosyltransferases.
            The locus includes thirteen unique alternate first exons followed
            by four common exons. Four of the alternate first exons are
            considered pseudogenes. Each of the remaining nine 5' exons may be
            spliced to the four common exons, resulting in nine proteins with
            different N-termini and identical C-termini. Each first exon
            encodes the substrate binding site, and is regulated by its own
            promoter. The enzyme encoded by this gene is active on phenolic and
            planar compounds. Alternative splicing in the unique 5' end of this
            gene results in two transcript variants. [provided by RefSeq, Jul
            2008].
            Transcript Variant:  This variant (1) represents the longer
            transcript. Its first exon contains both the 5' UTR and the 5'
            coding sequence, as is typical of the UGT1A genes.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2455
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..2455
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /note="UDP glucuronosyltransferase family 1 member A6"
                     /db_xref="GeneID:54578"
                     /db_xref="HGNC:HGNC:12538"
                     /db_xref="MIM:606431"
     misc_feature    74..76
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /note="upstream in-frame stop codon"
     CDS             116..1714
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /EC_number="2.4.1.17"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; UDP glycosyltransferase 1 family, polypeptide A6;
                     UDP-glucuronosyltransferase 1A6; phenol-metabolizing
                     UDP-glucuronosyltransferase; UDP-glucuronosyltransferase
                     1-6; UDP-glucuronosyltransferase 1 family polypeptide A6s;
                     UDP-glucuronosyltransferase 1-F; UDP
                     glucuronosyltransferase 1 family, polypeptide A6;
                     UDP-glucuronosyltransferase 1-1; Bilirubin-specific UDPGT
                     isozyme 1; UDP-glucuronosyltransferase 1-A;
                     UDP-glucuronosyltransferase 1A1;
                     UDP-glucuronosyltransferase 1-3;
                     UDP-glucuronosyltransferase 1-C;
                     UDP-glucuronosyltransferase 1A3;
                     UDP-glucuronosyltransferase 1-5;
                     UDP-glucuronosyltransferase 1-E;
                     UDP-glucuronosyltransferase 1A5"
                     /codon_start=1
                     /product="UDP-glucuronosyltransferase 1-6 isoform 1
                     precursor"
                     /protein_id="NP_001063.2"
                     /db_xref="CCDS:CCDS2507.1"
                     /db_xref="GeneID:54578"
                     /db_xref="HGNC:HGNC:12538"
                     /db_xref="MIM:606431"
                     /translation="MACLLRSFQRISAGVFFLALWGMVVGDKLLVVPQDGSHWLSMKDI
                     VEVLSDRGHEIVVVVPEVNLLLKESKYYTRKIYPVPYDQEELKNRYQSFGNNHFAERSF
                     LTAPQTEYRNNMIVIGLYFINCQSLLQDRDTLNFFKESKFDALFTDPALPCGVILAEYL
                     GLPSVYLFRGFPCSLEHTFSRSPDPVSYIPRCYTKFSDHMTFSQRVANFLVNLLEPYLF
                     YCLFSKYEELASAVLKRDVDIITLYQKVSVWLLRYDFVLEYPRPVMPNMVFIGGINCKK
                     RKDLSQEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTR
                     PSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDN
                     AKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAV
                     FWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCL
                     GKKGRVKKAHKSKTH"
     sig_peptide     116..193
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
     mat_peptide     194..1711
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /product="UDP-glucuronosyltransferase 1-6 isoform 1"
     misc_feature    995..997
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P19224.2); glycosylation site"
     misc_feature    1151..1153
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P19224.2); glycosylation site"
     misc_feature    1583..1633
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /note="propagated from UniProtKB/Swiss-Prot (P19224.2);
                     transmembrane region"
     regulatory      2435..2440
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /note="hexamer: AATAAA"
     polyA_site      2455
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /note="major polyA site"
ORIGIN
        1 agaggtagac aggacctgtg aaaagcagtg gttagtttag ggaaaatacc taggagccct
       61 gtgatttgga gagtgaaaac tctttattac cgttgttact ttaactcttt ccaggatggc
      121 ctgcctcctt cgctcatttc agagaatttc tgcaggggtt ttcttcttag cactttgggg
      181 catggttgta ggtgacaagc tgctggtggt ccctcaggac ggaagccact ggcttagtat
      241 gaaggatata gttgaggttc tcagtgaccg gggtcatgag attgtagtgg tggtgcctga
      301 agttaatttg cttttgaaag aatccaaata ctacacaaga aaaatctatc cagtgccgta
      361 tgaccaagaa gagctgaaga accgttacca atcatttgga aacaatcact ttgctgagcg
      421 atcattccta actgctcctc agacagagta caggaataac atgattgtta ttggcctgta
      481 cttcatcaac tgccagagcc tcctgcagga cagggacacc ctgaacttct ttaaggagag
      541 caagtttgat gctcttttca cagacccagc cttaccctgt ggggtgatcc tggctgagta
      601 tttgggccta ccatctgtgt acctcttcag gggttttccg tgttccctgg agcatacatt
      661 cagcagaagc ccagaccctg tgtcctacat tcccaggtgc tacacaaagt tttcagacca
      721 catgactttt tcccaacgag tggccaactt ccttgttaat ttgttggagc cctatctatt
      781 ttattgtctg ttttcaaagt atgaagaact cgcatcagct gtcctcaaga gagatgtgga
      841 tataatcacc ttatatcaga aggtctctgt ttggctgtta agatatgact ttgtgcttga
      901 atatcctagg ccggtcatgc ccaacatggt cttcattgga ggtatcaact gtaagaagag
      961 gaaagacttg tctcaggaat ttgaagccta cattaatgct tctggagaac atggaattgt
     1021 ggttttctct ttgggatcaa tggtctcaga aattccagag aagaaagcta tggcaattgc
     1081 tgatgctttg ggcaaaatcc ctcagacagt cctgtggcgg tacactggaa cccgaccatc
     1141 gaatcttgcg aacaacacga tacttgttaa gtggctaccc caaaacgatc tgcttggtca
     1201 cccgatgacc cgtgccttta tcacccatgc tggttcccat ggtgtttatg aaagcatatg
     1261 caatggcgtt cccatggtga tgatgccctt gtttggtgat cagatggaca atgcaaagcg
     1321 catggagact aagggagctg gagtgaccct gaatgttctg gaaatgactt ctgaagattt
     1381 agaaaatgct ctaaaagcag tcatcaatga caaaagttac aaggagaaca tcatgcgcct
     1441 ctccagcctt cacaaggacc gcccggtgga gccgctggac ctggccgtgt tctgggtgga
     1501 gtttgtgatg aggcacaagg gcgcgccaca cctgcgcccc gcagcccacg acctcacctg
     1561 gtaccagtac cattccttgg acgtgattgg tttcctcttg gccgtcgtgc tgacagtggc
     1621 cttcatcacc tttaaatgtt gtgcttatgg ctaccggaaa tgcttgggga aaaaagggcg
     1681 agttaagaaa gcccacaaat ccaagaccca ttgagaagtg ggtgggaaat aaggtaaaat
     1741 tttgaaccat tccctagtca tttccaaact tgaaaacaga atcagtgtta aattcatttt
     1801 attcttatta aggaaatact ttgcataaat taatcagccc cagagtgctt taaaaaattc
     1861 tcttaaataa aaataataga ctcgctagtc agtaaagata tttgaatatg tatcgtgccc
     1921 cctctggtgt ctttgatcag gatgacatgt gccatttttc agaggacgtg cagacaggct
     1981 ggcattctag attacttttc ttactctgaa acatggcctg tttgggagtg cgggattcaa
     2041 aggtggtccc acggctgccc ctactgcaaa tggcagtttt aatcttatct tttggcttct
     2101 gcagatggtt gcaattgatc cttaaccaat aatggtcagt cctcatctct gtcgtgcttc
     2161 ataggtgcca ccttgtgtgt ttaaagaagg gaagctttgt acctttagag tgtaggtgaa
     2221 atgaatgaat ggcttggagt gcactgagaa cagcatatga tttcttgctt tggggaaaaa
     2281 gaatgatgct atgaaattgg tgggtggtgt atttgagaag ataatcattg cttatgtcaa
     2341 atggagctga atttgataaa aacccaaaat acagctatga agtgctgggc aagtttactt
     2401 tttttctgat gtttcctaca actaaaaata aattaataaa tttatataaa ttcta
//
LOCUS       NM_001073               2105 bp    mRNA    linear   PRI 11-SEP-2020
DEFINITION  Homo sapiens UDP glucuronosyltransferase family 2 member B11
            (UGT2B11), mRNA.
ACCESSION   NM_001073
VERSION     NM_001073.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2105)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2105)
  AUTHORS   Li XAlpha, Zhou Y, Zhou SChi, Liu HR, Xu JM, Gao L, Yu XJ and Li XH.
  TITLE     Histopathology of melanosis coli and determination of its associated
            genes by comparative analysis of expression microarrays
  JOURNAL   Mol Med Rep 12 (4), 5807-5815 (2015)
   PUBMED   26238215
  REMARK    GeneRIF: CYP3A4, CYP3A7, UGT2B11 and UGT2B15 genes are significantly
            downregulated in melanosis coli.
REFERENCE   3  (bases 1 to 2105)
  AUTHORS   Ohno S and Nakajin S.
  TITLE     Quantitative analysis of UGT2B28 mRNA expression by real-time RT-PCR
            and application to human tissue distribution study
  JOURNAL   Drug Metab Lett 5 (3), 202-208 (2011)
   PUBMED   21679149
  REMARK    GeneRIF: significant expression of UGT2B11 was detected in the
            liver, breast and kidney, and was clearly different from the
            distribution of UGT2B28
REFERENCE   4  (bases 1 to 2105)
  AUTHORS   Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S,
            Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L,
            Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N, Klika
            A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J and Ducar M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat. Biotechnol. 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   5  (bases 1 to 2105)
  AUTHORS   Beaulieu M, Levesque E, Hum DW and Belanger A.
  TITLE     Isolation and characterization of a human orphan
            UDP-glucuronosyltransferase, UGT2B11
  JOURNAL   Biochem. Biophys. Res. Commun. 248 (1), 44-50 (1998)
   PUBMED   9675083
REFERENCE   6  (bases 1 to 2105)
  AUTHORS   Jin CJ, Miners JO, Lillywhite KJ and Mackenzie PI.
  TITLE     cDNA cloning and expression of two new members of the human liver
            UDP-glucuronosyltransferase 2B subfamily
  JOURNAL   Biochem. Biophys. Res. Commun. 194 (1), 496-503 (1993)
   PUBMED   8333863
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF016492.1, BC107059.2 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA2155590 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000446444.2/ ENSP00000387683.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC114797.5, AF016492.1, BG184936.1 and AC111000.3.
            On May 17, 2019 this sequence version replaced NM_001073.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2105
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.2"
     gene            1..2105
                     /gene="UGT2B11"
                     /note="UDP glucuronosyltransferase family 2 member B11"
                     /db_xref="GeneID:10720"
                     /db_xref="HGNC:HGNC:12545"
                     /db_xref="MIM:603064"
     misc_feature    9..11
                     /gene="UGT2B11"
                     /note="upstream in-frame stop codon"
     CDS             27..1616
                     /gene="UGT2B11"
                     /EC_number="2.4.1.17"
                     /note="UDPGT 2B11; UDP glycosyltransferase 2 family,
                     polypeptide B11; UDP glycosyltransferase 2 family protein;
                     UDP glucuronosyltransferase 2 family, polypeptide B11;
                     UDP-glucuronosyltransferase 2B11"
                     /codon_start=1
                     /product="UDP-glucuronosyltransferase 2B11 precursor"
                     /protein_id="NP_001064.1"
                     /db_xref="CCDS:CCDS3527.1"
                     /db_xref="GeneID:10720"
                     /db_xref="HGNC:HGNC:12545"
                     /db_xref="MIM:603064"
                     /translation="MTLKWTSVLLLIHLSCYFSSGSCGKVLVWAAEYSHWMNMKTILKE
                     LVQRGHEVTVLASSASILFDPNDASTLKFEVYPTSLTKTEFENIIMQQVKRWSDIRKDS
                     FWLYFSQEQEILWELYDIFRNFCKDVVSNKKVMKKLQESRFDIVFADAVFPCGELLAAL
                     LNIRFVYSLRFTPGYTIERHSGGLIFPPSYIPIVMSKLSDQMTFMERVKNMIYVLYFDF
                     WFQMSDMKKWDQFYSEVLGRPTTLFETMGKADIWLMRNSWSFQFPHPFLPNVDFVGGFH
                     CKPAKPLPKEMEEFVQSSGENGVVVFSLGSVISNMTAERANVIATALAKIPQKVLWRFD
                     GNKPDALGLNTRLYKWIPQNDLLGHPKTRAFITHGGANGIYEAIYHGIPMVGIPLFFDQ
                     PDNIAHMKAKGAAVRLDFNTMSSTDLLNALKTVINDPLYKENIMKLSRIQHDQPVKPLD
                     RAVFWIEFVMPHKGAKHLRVAAHDLTWFQYHSLDVIGFLLACVATVIFIITKFCLFCFW
                     KFARKGKKGKRD"
     sig_peptide     27..98
                     /gene="UGT2B11"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      1845..1850
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2B11"
                     /note="hexamer: ATTAAA"
     regulatory      1857..1862
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2B11"
                     /note="hexamer: TATAAA"
     polyA_site      1866
                     /gene="UGT2B11"
                     /note="major polyA site"
     polyA_site      1884
                     /gene="UGT2B11"
ORIGIN
        1 gaaaagaatg atcgcattgc accaggatga ctctgaaatg gacttcagtt cttctgctga
       61 tacatctcag ttgttacttt agctctggga gttgtggaaa agtgctggtg tgggccgcag
      121 aatacagcca ttggatgaat atgaagacaa tcctgaaaga gcttgttcag agaggtcatg
      181 aggtgactgt actggcatct tcagcttcca ttctttttga tcccaatgat gcatccactc
      241 ttaaatttga agtttatcct acatctttaa ctaaaactga atttgagaat atcatcatgc
      301 aacaggttaa gagatggtca gacattcgaa aagatagctt ttggttatat ttttcacaag
      361 aacaagaaat cctgtgggaa ttatatgaca tatttagaaa cttctgtaaa gatgtagttt
      421 caaataagaa agttatgaaa aaactacaag agtcaagatt tgacatcgtt tttgcagatg
      481 ctgtttttcc ctgtggtgag ctgctggctg cgctacttaa catacggttt gtgtacagtc
      541 tccgctttac tcctggctac acaattgaaa ggcacagtgg aggactgatt ttccctcctt
      601 cctacatacc tattgttatg tcaaaattaa gtgatcaaat gactttcatg gagagggtaa
      661 aaaatatgat ctatgtgctt tattttgact tttggttcca aatgtctgat atgaagaagt
      721 gggatcagtt ttacagtgaa gttttaggaa gacccactac cttatttgag acaatgggaa
      781 aagctgacat atggcttatg cgaaactcct ggagttttca atttcctcat ccattcttac
      841 caaacgttga ttttgttgga ggattccact gcaaacctgc caaaccccta cctaaggaaa
      901 tggaggagtt tgtacagagc tctggagaaa atggtgttgt ggtgttttct ctggggtcag
      961 tgataagtaa catgacagca gaaagggcca atgtaattgc aacagccctt gccaagatcc
     1021 cacaaaaggt tctgtggaga tttgacggga ataaaccaga tgccttaggt ctcaatactc
     1081 ggctgtacaa gtggataccc cagaatgacc ttctaggtca tccaaaaacc agagctttta
     1141 taactcatgg tggagccaat ggcatctatg aggcaatcta ccatgggatc cctatggtgg
     1201 gcattccatt gttttttgat caacctgata acattgctca catgaaggcc aagggagcag
     1261 ctgttagatt ggacttcaac acaatgtcga gtacagacct gctgaatgca ctgaagacag
     1321 taattaatga tcctttatat aaagagaata ttatgaaatt atcaagaatt caacatgatc
     1381 aaccagtaaa gcccctggat cgagcagtct tctggattga atttgtcatg ccccacaaag
     1441 gagccaaaca ccttcgagtt gcagcccatg acctcacctg gttccagtac cactctttgg
     1501 atgtgattgg gtttctgctg gcctgtgtgg caactgtgat atttatcatc acaaagtttt
     1561 gtctgttttg tttctggaag tttgctagaa aagggaagaa gggaaaaaga gattagttat
     1621 gtctgacatt tgaagctgga aaaccagata gataggacaa cttcagttta ttccagcaag
     1681 aaagaaaaga ttgttatgca agatttcttt cttcctgtga caaaaaaaaa aaaaaaaaaa
     1741 aaattttcaa atctaccttg tcaagtaaaa atttgttttt cagagattta ccacccaggt
     1801 aatggttaga aatattttgt ggcaatgaag aaaatactag gaaaattaaa aaataatata
     1861 aagccatttg agctcatatt gaaatttgtt gcacttatat tgagatttgt tgtttgaatt
     1921 cacaagttac atgaaaaaat ttactcagct taactatatt tcacacattt tacataaaca
     1981 caagaacatt aagaagtcta ctgacagtat cagtagtcac atcctcagaa taatttggct
     2041 tcattttgaa caggattctg ttgttttaac tgttgctaaa gaaactatta catagttaaa
     2101 ttgta
//
LOCUS       NM_001074               1888 bp    mRNA    linear   PRI 19-JUN-2023
DEFINITION  Homo sapiens UDP glucuronosyltransferase family 2 member B7
            (UGT2B7), transcript variant 1, mRNA.
ACCESSION   NM_001074
VERSION     NM_001074.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1888)
  AUTHORS   Matsumoto J, Nishimoto A, Watari S, Ueki H, Shiromizu S, Iwata N,
            Takeda T, Ushio S, Kajizono M, Fujiyoshi M, Koyama T, Araki M, Wada
            K, Zamami Y, Nasu Y and Ariyoshi N.
  TITLE     Significance of UGT1A6, UGT1A9, and UGT2B7 genetic variants and
            their mRNA expression in the clinical outcome of renal cell
            carcinoma
  JOURNAL   Mol Cell Biochem 478 (8), 1779-1790 (2023)
   PUBMED   36571650
  REMARK    GeneRIF: Significance of UGT1A6, UGT1A9, and UGT2B7 genetic variants
            and their mRNA expression in the clinical outcome of renal cell
            carcinoma.
REFERENCE   2  (bases 1 to 1888)
  AUTHORS   Song,C., Li,X., Zhang,H., Bao,J., Lu,W., Peng,Q. and Zhang,Y.
  TITLE     Impact of MDR1 and UGT Gene Polymorphisms on Sodium Valproate Plasma
            Concentration in Patients with Epilepsy
  JOURNAL   Clin Lab 68 (10) (2022)
   PUBMED   36250837
  REMARK    GeneRIF: Impact of MDR1 and UGT Gene Polymorphisms on Sodium
            Valproate Plasma Concentration in Patients with Epilepsy.
REFERENCE   3  (bases 1 to 1888)
  AUTHORS   Nandith PB, Adiga U, Shenoy V and Adiga M N S.
  TITLE     UGT1A6 and UGT2B7 Gene Polymorphism and its Effect in Pediatric
            Epileptic Patients on Sodium Valproate Monotherapy
  JOURNAL   Indian J Pediatr 88 (8), 764-770 (2021)
   PUBMED   33400134
  REMARK    GeneRIF: UGT1A6 and UGT2B7 Gene Polymorphism and its Effect in
            Pediatric Epileptic Patients on Sodium Valproate Monotherapy.
REFERENCE   4  (bases 1 to 1888)
  AUTHORS   Du Z, Xu H, Zhao P, Wang J, Xu Q and Liu M.
  TITLE     Influence of UGT2B7 and UGT1A6 polymorphisms on plasma concentration
            to dose ratio of valproic acid in Chinese epileptic children
  JOURNAL   Xenobiotica 51 (7), 859-864 (2021)
   PUBMED   34000957
  REMARK    GeneRIF: Influence of UGT2B7 and UGT1A6 polymorphisms on plasma
            concentration to dose ratio of valproic acid in Chinese epileptic
            children.
REFERENCE   5  (bases 1 to 1888)
  AUTHORS   Qian Y, Xie L, Li L, Feng T, Zhu T, Wang R, Yang Y, Zhou B, Yu H and
            Qian B.
  TITLE     Association between sex hormones regulation-related SNP rs12233719
            and lung cancer risk among never-smoking Chinese women
  JOURNAL   Cancer Med 10 (5), 1880-1888 (2021)
   PUBMED   33595913
  REMARK    GeneRIF: Association between sex hormones regulation-related SNP
            rs12233719 and lung cancer risk among never-smoking Chinese women.
REFERENCE   6  (bases 1 to 1888)
  AUTHORS   King CD, Rios GR, Assouline JA and Tephly TR.
  TITLE     Expression of UDP-glucuronosyltransferases (UGTs) 2B7 and 1A6 in the
            human brain and identification of 5-hydroxytryptamine as a substrate
  JOURNAL   Arch Biochem Biophys 365 (1), 156-162 (1999)
   PUBMED   10222050
REFERENCE   7  (bases 1 to 1888)
  AUTHORS   Strassburg CP, Strassburg A, Nguyen N, Li Q, Manns MP and Tukey RH.
  TITLE     Regulation and function of family 1 and family 2
            UDP-glucuronosyltransferase genes (UGT1A, UGT2B) in human oesophagus
  JOURNAL   Biochem J 338 (Pt 2) (Pt 2), 489-498 (1999)
   PUBMED   10024527
REFERENCE   8  (bases 1 to 1888)
  AUTHORS   Belanger G, Beaulieu M, Marcotte B, Levesque E, Guillemette C, Hum
            DW and Belanger A.
  TITLE     Expression of transcripts encoding steroid
            UDP-glucuronosyltransferases in human prostate hyperplastic tissue
            and the LNCaP cell line
  JOURNAL   Mol Cell Endocrinol 113 (2), 165-173 (1995)
   PUBMED   8674824
REFERENCE   9  (bases 1 to 1888)
  AUTHORS   Monaghan G, Clarke DJ, Povey S, See CG, Boxer M and Burchell B.
  TITLE     Isolation of a human YAC contig encompassing a cluster of UGT2 genes
            and its regional localization to chromosome 4q13
  JOURNAL   Genomics 23 (2), 496-499 (1994)
   PUBMED   7835904
REFERENCE   10  (bases 1 to 1888)
  AUTHORS   Ritter JK, Sheen YY and Owens IS.
  TITLE     Cloning and expression of human liver UDP-glucuronosyltransferase in
            COS-1 cells. 3,4-catechol estrogens and estriol as primary
            substrates
  JOURNAL   J Biol Chem 265 (14), 7900-7906 (1990)
   PUBMED   2159463
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK313190.1, J05428.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968540,
            SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000305231.12/ ENSP00000304811.7
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK313190.1, BC030974.1 and AW614236.1.
            On Nov 22, 2018 this sequence version replaced NM_001074.3.
            Summary: The protein encoded by this gene belongs to the
            UDP-glycosyltransferase (UGT) family. UGTs serve a major role in
            the conjugation and subsequent elimination of potentially toxic
            xenobiotics and endogenous compounds. This protein is localized in
            the microsome membrane, and has unique specificity for 3,4-catechol
            estrogens and estriol, suggesting that it may play an important
            role in regulating the level and activity of these potent estrogen
            metabolites. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Mar 2017].
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1888
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.2"
     gene            1..1888
                     /gene="UGT2B7"
                     /gene_synonym="UDPGT 2B7; UDPGT 2B9; UDPGT2B7; UDPGTh-2;
                     UDPGTH2; UGT2B9"
                     /note="UDP glucuronosyltransferase family 2 member B7"
                     /db_xref="GeneID:7364"
                     /db_xref="HGNC:HGNC:12554"
                     /db_xref="MIM:600068"
     CDS             48..1637
                     /gene="UGT2B7"
                     /gene_synonym="UDPGT 2B7; UDPGT 2B9; UDPGT2B7; UDPGTh-2;
                     UDPGTH2; UGT2B9"
                     /EC_number="2.4.1.17"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; UDP-glucuronyltransferase, family 2, beta-7;
                     3,4-catechol estrogen specific; UDP glucuronosyltransferase
                     2 family, polypeptide B7; UDP-glucuronosyltransferase 2B7;
                     UDP-glucuronosyltransferase 2B9; 3,4-catechol
                     estrogen-specific UDPGT"
                     /codon_start=1
                     /product="UDP-glucuronosyltransferase 2B7 isoform 1
                     precursor"
                     /protein_id="NP_001065.2"
                     /db_xref="CCDS:CCDS3526.1"
                     /db_xref="GeneID:7364"
                     /db_xref="HGNC:HGNC:12554"
                     /db_xref="MIM:600068"
                     /translation="MSVKWTSVILLIQLSFCFSSGNCGKVLVWAAEYSHWMNIKTILDE
                     LIQRGHEVTVLASSASILFDPNNSSALKIEIYPTSLTKTELENFIMQQIKRWSDLPKDT
                     FWLYFSQVQEIMSIFGDITRKFCKDVVSNKKFMKKVQESRFDVIFADAIFPCSELLAEL
                     FNIPFVYSLSFSPGYTFEKHSGGFIFPPSYVPVVMSELTDQMTFMERVKNMIYVLYFDF
                     WFEIFDMKKWDQFYSEVLGRPTTLSETMGKADVWLIRNSWNFQFPYPLLPNVDFVGGLH
                     CKPAKPLPKEMEDFVQSSGENGVVVFSLGSMVSNMTEERANVIASALAQIPQKVLWRFD
                     GNKPDTLGLNTRLYKWIPQNDLLGHPKTRAFITHGGANGIYEAIYHGIPMVGIPLFADQ
                     PDNIAHMKARGAAVRVDFNTMSSTDLLNALKRVINDPSYKENVMKLSRIQHDQPVKPLD
                     RAVFWIEFVMRHKGAKHLRVAAHDLTWFQYHSLDVIGFLLVCVATVIFIVTKCCLFCFW
                     KFARKAKKGKND"
     sig_peptide     48..104
                     /gene="UGT2B7"
                     /gene_synonym="UDPGT 2B7; UDPGT 2B9; UDPGT2B7; UDPGTh-2;
                     UDPGTH2; UGT2B9"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      1784..1789
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2B7"
                     /gene_synonym="UDPGT 2B7; UDPGT 2B9; UDPGT2B7; UDPGTh-2;
                     UDPGTH2; UGT2B9"
                     /note="hexamer: AATAAA"
     polyA_site      1817
                     /gene="UGT2B7"
                     /gene_synonym="UDPGT 2B7; UDPGT 2B9; UDPGT2B7; UDPGTh-2;
                     UDPGTH2; UGT2B9"
                     /note="major polyA site"
     regulatory      1865..1870
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2B7"
                     /gene_synonym="UDPGT 2B7; UDPGT 2B9; UDPGT2B7; UDPGTh-2;
                     UDPGTH2; UGT2B9"
                     /note="hexamer: AATAAA"
     polyA_site      1888
                     /gene="UGT2B7"
                     /gene_synonym="UDPGT 2B7; UDPGT 2B9; UDPGT2B7; UDPGTh-2;
                     UDPGTH2; UGT2B9"
                     /note="major polyA site"
ORIGIN
        1 gacagaaagg aacagcaact ggaaaacaag cattgcattg caccaggatg tctgtgaaat
       61 ggacttcagt aattttgcta atacaactga gcttttgctt tagctctggg aattgtggaa
      121 aggtgctggt gtgggcagca gaatacagcc attggatgaa tataaagaca atcctggatg
      181 agcttattca gagaggtcat gaggtgactg tactggcatc ttcagcttcc attctttttg
      241 atcccaacaa ctcatccgct cttaaaattg aaatttatcc cacatcttta actaaaactg
      301 agttggagaa tttcatcatg caacagatta agagatggtc agaccttcca aaagatacat
      361 tttggttata tttttcacaa gtacaggaaa tcatgtcaat atttggtgac ataactagaa
      421 agttctgtaa agatgtagtt tcaaataaga aatttatgaa aaaagtacaa gagtcaagat
      481 ttgacgtcat ttttgcagat gctatttttc cctgtagtga gctgctggct gagctattta
      541 acataccctt tgtgtacagt ctcagcttct ctcctggcta cacttttgaa aagcatagtg
      601 gaggatttat tttccctcct tcctacgtac ctgttgttat gtcagaatta actgatcaaa
      661 tgactttcat ggagagggta aaaaatatga tctatgtgct ttactttgac ttttggttcg
      721 aaatatttga catgaagaag tgggatcagt tttatagtga agttctagga agacccacta
      781 cattatctga gacaatgggg aaagctgacg tatggcttat tcgaaactcc tggaattttc
      841 agtttccata tccactctta ccaaatgttg attttgttgg aggactccac tgcaaacctg
      901 ccaaacccct gcctaaggaa atggaagact ttgtacagag ctctggagaa aatggtgttg
      961 tggtgttttc tctggggtca atggtcagta acatgacaga agaaagggcc aacgtaattg
     1021 catcagccct ggcccagatc ccacaaaagg ttctgtggag atttgatggg aataaaccag
     1081 ataccttagg tctcaatact cggctctaca agtggatacc ccagaatgac cttctaggtc
     1141 atccaaagac cagagctttt ataactcatg gtggagccaa tggcatctac gaggcaatct
     1201 accatgggat ccctatggtg gggattccat tgtttgccga tcaacctgat aacattgctc
     1261 acatgaaggc caggggagca gctgttagag tggacttcaa cacaatgtcg agtacagact
     1321 tgctgaatgc attgaagaga gtaattaatg atccttcata taaagagaat gttatgaaat
     1381 tatcaagaat tcaacatgat caaccagtga agcccctgga tcgagcagtc ttctggattg
     1441 aatttgtcat gcgccacaaa ggagctaaac accttcgggt tgcagcccac gacctcacct
     1501 ggttccagta ccactctttg gatgtgattg ggttcctgct ggtctgtgtg gcaactgtga
     1561 tatttatcgt cacaaaatgt tgtctgtttt gtttctggaa gtttgctaga aaagcaaaga
     1621 agggaaaaaa tgattagtta tatctgagat ttgaagctgg aaaacctgat aggtgagact
     1681 acttcagttt attccagcaa gaaagattgt gatgcaagat ttctttcttc ctgagacaaa
     1741 aaaaaaaaaa gaaaaaaaaa tcttttcaaa atttactttg tcaaataaaa atttgttttt
     1801 cagagattta ccacccagtt catggttaga aatattttgt ggcaatgaag aaaacactac
     1861 ggaaaataaa aaataagata aagcctta
//
LOCUS       NM_001075               2757 bp    mRNA    linear   PRI 28-NOV-2021
DEFINITION  Homo sapiens UDP glucuronosyltransferase family 2 member B10
            (UGT2B10), transcript variant 1, mRNA.
ACCESSION   NM_001075
VERSION     NM_001075.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2757)
  AUTHORS   Sipe CJ, Koopmeiners JS, Donny EC, Hatsukami DK and Murphy SE.
  TITLE     UGT2B10 Genotype Influences Serum Cotinine Levels and Is a Primary
            Determinant of Higher Cotinine in African American Smokers
  JOURNAL   Cancer Epidemiol Biomarkers Prev 29 (8), 1673-1678 (2020)
   PUBMED   32532831
  REMARK    GeneRIF: UGT2B10 Genotype Influences Serum Cotinine Levels and Is a
            Primary Determinant of Higher Cotinine in African American Smokers.
REFERENCE   2  (bases 1 to 2757)
  AUTHORS   Lu D, Dong D, Xie Q, Li Z and Wu B.
  TITLE     Disposition of Mianserin and Cyclizine in UGT2B10-Overexpressing
            Human Embryonic Kidney 293 Cells: Identification of UGT2B10 as a
            Novel N-Glucosidation Enzyme and Breast Cancer Resistance Protein as
            an N-Glucoside Transporter
  JOURNAL   Drug Metab Dispos 46 (7), 970-979 (2018)
   PUBMED   29691239
  REMARK    GeneRIF: UGT2B10 was for the first time identified as an
            N-glucosidation enzyme. Generated N-glucosides were excreted
            primarily by the BCRP transporter.
REFERENCE   3  (bases 1 to 2757)
  AUTHORS   Murphy SE, von Weymarn LB, Parenteau M, Stepanov I, Tiirikainen M,
            LeMarchand L and Park SL.
  TITLE     Influence of UGT2B10 Genotype on Urinary Excretion of
            4-(Methylnitrosamino)-1-(3-pyridyl)-1-butanol- N-glucuronide by
            African American Smokers
  JOURNAL   Chem Res Toxicol 31 (3), 168-175 (2018)
   PUBMED   29460622
  REMARK    GeneRIF: The high prevalence of a UGT2B10 splice variant among
            African Americans results in lower
            4-(methylnitrosamino)-1-(3-pyridyl)-1-butanol (NNAL), -
            N-glucuronidation but only a small decrease in total NNAL
            glucuronidation. Therefore, despite the significant contribution of
            UGT2B10 to NNAL- N-glucuronidation, the UGT2B10 genotype does not
            play a large role in NNAL detoxication.
REFERENCE   4  (bases 1 to 2757)
  AUTHORS   Chen G, Dellinger RW, Gallagher CJ, Sun D and Lazarus P.
  TITLE     Identification of a prevalent functional missense polymorphism in
            the UGT2B10 gene and its association with UGT2B10 inactivation
            against tobacco-specific nitrosamines
  JOURNAL   Pharmacogenet Genomics 18 (3), 181-191 (2008)
   PUBMED   18300939
  REMARK    GeneRIF: The UGT2B10(67Tyr) variant corresponding to haplotype C is
            a functional single nucleotide polymorphism that may be responsible
            for inter individual variation in NNAL-N-glucuronidation activity
            and may increase susceptibility to smoking-related cancers. GeneRIF:
            Observational study of gene-disease association. (HuGE Navigator)
REFERENCE   5  (bases 1 to 2757)
  AUTHORS   Chen G, Blevins-Primeau AS, Dellinger RW, Muscat JE and Lazarus P.
  TITLE     Glucuronidation of nicotine and cotinine by UGT2B10: loss of
            function by the UGT2B10 Codon 67 (Asp>Tyr) polymorphism
  JOURNAL   Cancer Res 67 (19), 9024-9029 (2007)
   PUBMED   17909004
  REMARK    GeneRIF: Data suggest that UGT2B10 is the major hepatic enzyme
            involved in nicotine/cotinine glucuronidation and that the UGT2B10*2
            variant reduces nicotine- and cotinine-N-glucuronidation formation
            and plays a role in nicotine metabolism and elimination.
REFERENCE   6  (bases 1 to 2757)
  AUTHORS   Kaivosaari S, Toivonen P, Hesse LM, Koskinen M, Court MH and Finel
            M.
  TITLE     Nicotine glucuronidation and the human UDP-glucuronosyltransferase
            UGT2B10
  JOURNAL   Mol Pharmacol 72 (3), 761-768 (2007)
   PUBMED   17576790
  REMARK    GeneRIF: Nicotine glucuronidation and UGT2B10 is reported.
REFERENCE   7  (bases 1 to 2757)
  AUTHORS   Jin P, Fu GK, Wilson AD, Yang J, Chien D, Hawkins PR, Au-Young J and
            Stuve LL.
  TITLE     PCR isolation and cloning of novel splice variant mRNAs from known
            drug target genes
  JOURNAL   Genomics 83 (4), 566-571 (2004)
   PUBMED   15028279
REFERENCE   8  (bases 1 to 2757)
  AUTHORS   Strassburg CP, Kneip S, Topp J, Obermayer-Straub P, Barut A, Tukey
            RH and Manns MP.
  TITLE     Polymorphic gene regulation and interindividual variation of
            UDP-glucuronosyltransferase activity in human small intestine
  JOURNAL   J Biol Chem 275 (46), 36164-36171 (2000)
   PUBMED   10748067
REFERENCE   9  (bases 1 to 2757)
  AUTHORS   Strassburg CP, Strassburg A, Nguyen N, Li Q, Manns MP and Tukey RH.
  TITLE     Regulation and function of family 1 and family 2
            UDP-glucuronosyltransferase genes (UGT1A, UGT2B) in human oesophagus
  JOURNAL   Biochem J 338 (Pt 2), 489-498 (1999)
   PUBMED   10024527
REFERENCE   10  (bases 1 to 2757)
  AUTHORS   Jin CJ, Miners JO, Lillywhite KJ and Mackenzie PI.
  TITLE     cDNA cloning and expression of two new members of the human liver
            UDP-glucuronosyltransferase 2B subfamily
  JOURNAL   Biochem Biophys Res Commun 194 (1), 496-503 (1993)
   PUBMED   8333863
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK292738.1, BC113649.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145122,
            SAMEA2152798 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000265403.12/ ENSP00000265403.7
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC113649.1, AK292738.1 and AC021146.7.
            On Nov 23, 2018 this sequence version replaced NM_001075.5.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2757
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.2"
     gene            1..2757
                     /gene="UGT2B10"
                     /gene_synonym="UDPGT2B10"
                     /note="UDP glucuronosyltransferase family 2 member B10"
                     /db_xref="GeneID:7365"
                     /db_xref="HGNC:HGNC:12544"
                     /db_xref="MIM:600070"
     CDS             27..1613
                     /gene="UGT2B10"
                     /gene_synonym="UDPGT2B10"
                     /EC_number="2.4.1.17"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; UDP-glucuronosyltransferase 2B10; UDPGT 2B10; UDP
                     glucuronosyltransferase 2 family, polypeptide B10"
                     /codon_start=1
                     /product="UDP-glucuronosyltransferase 2B10 isoform 1
                     precursor"
                     /protein_id="NP_001066.1"
                     /db_xref="CCDS:CCDS75136.1"
                     /db_xref="GeneID:7365"
                     /db_xref="HGNC:HGNC:12544"
                     /db_xref="MIM:600070"
                     /translation="MALKWTTVLLIQLSFYFSSGSCGKVLVWAAEYSLWMNMKTILKEL
                     VQRGHEVTVLASSASILFDPNDSSTLKLEVYPTSLTKTEFENIIMQLVKRLSEIQKDTF
                     WLPFSQEQEILWAINDIIRNFCKDVVSNKKLMKKLQESRFDIVFADAYLPCGELLAELF
                     NIPFVYSHSFSPGYSFERHSGGFIFPPSYVPVVMSKLSDQMTFMERVKNMLYVLYFDFW
                     FQIFNMKKWDQFYSEVLGRPTTLSETMRKADIWLMRNSWNFKFPHPFLPNVDFVGGLHC
                     KPAKPLPKEMEEFVQSSGENGVVVFSLGSMVSNMTEERANVIATALAKIPQKVLWRFDG
                     NKPDALGLNTRLYKWIPQNDLLGHPKTRAFITHGGANGIYEAIYHGIPMVGIPLFFDQP
                     DNIAHMKAKGAAVRVDFNTMSSTDLLNALKTVINDPSYKENIMKLSRIQHDQPVKPLDR
                     AVFWIEFVMRHKGAKHLRVAAHNLTWFQYHSLDVIGFLLACVATVLFIITKCCLFCFWK
                     FARKGKKGKRD"
     sig_peptide     27..92
                     /gene="UGT2B10"
                     /gene_synonym="UDPGT2B10"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      1827..1832
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2B10"
                     /gene_synonym="UDPGT2B10"
                     /note="hexamer: AATAAA"
     polyA_site      1848
                     /gene="UGT2B10"
                     /gene_synonym="UDPGT2B10"
                     /note="major polyA site"
     regulatory      2305..2310
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2B10"
                     /gene_synonym="UDPGT2B10"
                     /note="hexamer: AATGAA"
     polyA_site      2329
                     /gene="UGT2B10"
                     /gene_synonym="UDPGT2B10"
     regulatory      2363..2368
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2B10"
                     /gene_synonym="UDPGT2B10"
                     /note="hexamer: AGTAAA"
     regulatory      2372..2377
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2B10"
                     /gene_synonym="UDPGT2B10"
                     /note="hexamer: ATTAAA"
     polyA_site      2385
                     /gene="UGT2B10"
                     /gene_synonym="UDPGT2B10"
     polyA_site      2400
                     /gene="UGT2B10"
                     /gene_synonym="UDPGT2B10"
     regulatory      2735..2740
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2B10"
                     /gene_synonym="UDPGT2B10"
                     /note="hexamer: AATAAA"
     polyA_site      2757
                     /gene="UGT2B10"
                     /gene_synonym="UDPGT2B10"
ORIGIN
        1 gaaaagaatt atcacattgc acaaggatgg ctctgaaatg gactacagtt ctgctgatac
       61 aactcagttt ttactttagc tctgggagtt gtggaaaggt gctggtatgg gccgcagaat
      121 acagcctttg gatgaatatg aagacaatcc tgaaagaact tgttcagaga ggtcatgagg
      181 tgactgtact ggcatcttca gcttccattc tttttgatcc caacgactca tccactctta
      241 aacttgaagt ttatcctaca tctttaacta aaactgaatt tgagaatatc atcatgcaat
      301 tggttaagag attgtcagaa attcaaaaag atacattttg gttacctttt tcacaagaac
      361 aagaaatcct gtgggcaatt aatgacataa ttagaaactt ctgtaaagat gtagtttcaa
      421 ataagaaact tatgaaaaaa ctacaagagt caagatttga catcgttttt gcagatgctt
      481 atttaccctg tggtgagctg ctggctgagc tatttaacat accctttgtg tacagtcaca
      541 gcttcagtcc tggctactca tttgaaaggc acagtggagg atttattttc cctccttcct
      601 acgtacctgt tgttatgtca aaattaagtg atcaaatgac tttcatggag agggtaaaaa
      661 atatgctcta tgtgctttat tttgactttt ggttccaaat atttaatatg aagaagtggg
      721 atcagtttta cagtgaagtt ttaggaagac ccactacatt atctgagaca atgaggaaag
      781 ctgacatatg gcttatgcga aactcctgga attttaaatt tcctcatcca ttcttaccaa
      841 atgttgattt tgttggagga ctccactgca aacctgccaa acccctacct aaggaaatgg
      901 aggagtttgt acagagctct ggagaaaatg gtgttgtggt gttttctctg gggtcaatgg
      961 tcagtaacat gacagaagaa agggccaacg taattgcaac agcccttgcc aagatcccac
     1021 aaaaggttct ttggagattt gatgggaata aaccagatgc cttaggtctc aatactcgac
     1081 tgtacaagtg gataccccag aatgaccttc taggtcatcc aaaaaccaga gcttttataa
     1141 ctcatggtgg agccaatggc atctatgagg caatctacca tgggatccct atggtgggca
     1201 ttccattgtt ttttgatcaa cctgataata ttgctcacat gaaggccaag ggagcagctg
     1261 ttagagtgga cttcaacaca atgtcgagta cagacctgct gaatgcactg aagacagtaa
     1321 ttaatgatcc ttcatataaa gagaatatta tgaaattatc aagaattcaa catgatcaac
     1381 cagtgaagcc cctggatcga gcagtcttct ggattgaatt tgtcatgcgc cacaaaggag
     1441 ccaaacatct tcgagttgca gcccacaacc tcacctggtt ccagtaccac tctttggatg
     1501 tgattgggtt cctgctggct tgtgtggcaa ccgtgctatt tatcatcaca aagtgttgtc
     1561 tgttttgttt ctggaagttt gctagaaaag gaaagaaggg aaaaagggat tagttatatc
     1621 tgagatttga agctggaaaa cctgatagat aggaatactt cagttgattc cagcaataaa
     1681 tattgtgatg caagatttct ttcttcctgt gacaaaaaaa aatcctttcg aagtctacct
     1741 tgtcaagtaa aaatttgttt ttcagagatt taccacccag ttaatggtta gaaatattct
     1801 gtggcaatga agaaaacact aggggaaata aaaaataata taaagccata tgagcttgta
     1861 ttgaaatttg ttgcacttat attgaaatgt gatcatggct cacttcagcc tcaacttact
     1921 aagctcaaga ggttctctca cctcagcccc ccaagtagct gggaccatag gtgcatgtca
     1981 ccatgtccaa ctaatttttt attttttgta gtgatgagat ctcattgtgt tctccatgct
     2041 gatttcaaac tcctgggctc aaacaatcct cccattttag catcccaaag ggatgagatt
     2101 acaggtatgt accaccataa ctttacaaaa tgagattttt atataagaat gattcaaatg
     2161 ttcagggatg aaagagtcac taacataaaa gaagaatggg atgaggtgag aaggatgaat
     2221 acaaaaataa ttagatattc ttgaaatcag aaatgtgctc cctaattata tgaaatgttg
     2281 tttgattaca taaaataaag tggaaatgaa tgattgactg aacagcccac aagaagaatc
     2341 acttaatgct ctgaaaatta ccagtaaact gattaaaatc taaaattgct ttctgttaaa
     2401 gctttactga ttagtttttc ttccaaagct ctcttgtttc tagttgtttt cttggtctta
     2461 actacccatt atatgctttg ttaaagtgtt tatgccctga ttcaatgtga ttatctcaat
     2521 ttttatttca ttctgtccta actcttgcaa cctgcatgtc ctctttatta ttgatcaatc
     2581 caactgcaaa gttcacctta cctgactaag gattattcat taagttttac ttgtttatct
     2641 gacatttatt attttgtctc tttgctagtc actctgagcc atggtcatga tgacttagga
     2701 ttctggatct cttatgaata acaaatttat ccttaataaa gtctctatac taaagaa
//
LOCUS       NM_001076               2134 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens UDP glucuronosyltransferase family 2 member B15
            (UGT2B15), mRNA.
ACCESSION   NM_001076
VERSION     NM_001076.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2134)
  AUTHORS   Sarfstein R, Nagaraj K, Parikh S, Levy C, Laron Z, Benayahu D and
            Werner H.
  TITLE     Identification of UDP-Glucuronosyltransferase 2B15 (UGT2B15) as a
            Target for IGF1 and Insulin Action
  JOURNAL   Cells 11 (10), 1627 (2022)
   PUBMED   35626664
  REMARK    GeneRIF: Identification of UDP-Glucuronosyltransferase 2B15
            (UGT2B15) as a Target for IGF1 and Insulin Action. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 2134)
  AUTHORS   Shafiee-Kermani F, Carney ST, Jima D, Utin UC, Farrar LB, Oputa MO,
            Hines MR, Kinyamu HK, Trotter KW, Archer TK, Hoyo C, Koller BH,
            Freedland SJ and Grant DJ.
  TITLE     Expression of UDP Glucuronosyltransferases 2B15 and 2B17 is
            associated with methylation status in prostate cancer cells
  JOURNAL   Epigenetics 16 (3), 289-299 (2021)
   PUBMED   32660355
  REMARK    GeneRIF: Expression of UDP Glucuronosyltransferases 2B15 and 2B17 is
            associated with methylation status in prostate cancer cells.
REFERENCE   3  (bases 1 to 2134)
  AUTHORS   Yu D, Chen J, Chen S, Xu L, Wu L, Li D, Luo J, Jin Y, Zhao Y, Knox
            B, Tolleson WH, Wang X, Guo L, Tong W and Ning B.
  TITLE     Coordinated Regulation of UGT2B15 Expression by Long Noncoding RNA
            LINC00574 and hsa-miR-129-5p in HepaRG Cells
  JOURNAL   Drug Metab Dispos 48 (4), 297-306 (2020)
   PUBMED   32086297
  REMARK    GeneRIF: Coordinated Regulation of UGT2B15 Expression by Long
            Noncoding RNA LINC00574 and hsa-miR-129-5p in HepaRG Cells.
            Erratum:[Drug Metab Dispos. 2020 May;48(5):386. PMID: 32273307]
REFERENCE   4  (bases 1 to 2134)
  AUTHORS   Luo Y, Nie Y, Tang L, Xu CC and Xu L.
  TITLE     The correlation between UDP-glucuronosyltransferase polymorphisms
            and environmental endocrine disruptors levels in polycystic ovary
            syndrome patients
  JOURNAL   Medicine (Baltimore) 99 (11), e19444 (2020)
   PUBMED   32176075
  REMARK    GeneRIF: Novel associations between the UGT polymorphisms and EEDs
            concentrations in patients with PCOS, supporting the relevance of
            genetic differences in EEDs metabolism, which might be considered as
            an etiology of PCOS.
REFERENCE   5  (bases 1 to 2134)
  AUTHORS   Chen X, Li D, Wang N, Yang M, Liao A, Wang S, Hu G, Zeng B, Yao Y,
            Liu D, Liu H, Zhou W, Xiao W, Li P, Ming C, Ping S, Chen P, Jing L,
            Bai Y and Yao J.
  TITLE     Bioinformatic analysis suggests that UGT2B15 activates the Hippo-YAP
            signaling pathway leading to the pathogenesis of gastric cancer
  JOURNAL   Oncol Rep 40 (4), 1855-1862 (2018)
   PUBMED   30066917
  REMARK    GeneRIF: High UGT2B15 expression is associated with the pathogenesis
            of gastric cancer.
REFERENCE   6  (bases 1 to 2134)
  AUTHORS   Green MD, Clarke DJ, Oturu EM, Styczynski PB, Jackson MR, Burchell B
            and Tephly TR.
  TITLE     Cloning and expression of a rat liver phenobarbital-inducible
            UDP-glucuronosyltransferase (2B12) with specificity for
            monoterpenoid alcohols
  JOURNAL   Arch Biochem Biophys 322 (2), 460-468 (1995)
   PUBMED   7574722
REFERENCE   7  (bases 1 to 2134)
  AUTHORS   Monaghan G, Clarke DJ, Povey S, See CG, Boxer M and Burchell B.
  TITLE     Isolation of a human YAC contig encompassing a cluster of UGT2 genes
            and its regional localization to chromosome 4q13
  JOURNAL   Genomics 23 (2), 496-499 (1994)
   PUBMED   7835904
REFERENCE   8  (bases 1 to 2134)
  AUTHORS   Green MD, Oturu EM and Tephly TR.
  TITLE     Stable expression of a human liver UDP-glucuronosyltransferase
            (UGT2B15) with activity toward steroid and xenobiotic substrates
  JOURNAL   Drug Metab Dispos 22 (5), 799-805 (1994)
   PUBMED   7835232
REFERENCE   9  (bases 1 to 2134)
  AUTHORS   Coffman BL, Tephly TR, Irshaid YM, Green MD, Smith C, Jackson MR,
            Wooster R and Burchell B.
  TITLE     Characterization and primary sequence of a human hepatic microsomal
            estriol UDPglucuronosyltransferase
  JOURNAL   Arch Biochem Biophys 281 (1), 170-175 (1990)
   PUBMED   2116769
REFERENCE   10  (bases 1 to 2134)
  AUTHORS   Irshaid,Y.M. and Tephly,T.R.
  TITLE     Isolation and purification of two human liver
            UDP-glucuronosyltransferases
  JOURNAL   Mol Pharmacol 31 (1), 27-34 (1987)
   PUBMED   3100939
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF180322.1, AF548389.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN04284274
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000338206.6/ ENSP00000341045.5
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF180322.1, AC147055.2 and
            U06641.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001076.3.
            Summary: This gene encodes a glycosyltransferase that is invovled
            in the metabolism and elimination of toxic compounts, both
            endogenous and of xenobiotic origin. This gene plays a role in the
            regulation of estrogens and androgens. This locus is present in a
            cluster of similar genes and pseudogenes on chromosome 4. [provided
            by RefSeq, Aug 2016].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2134
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.2"
     gene            1..2134
                     /gene="UGT2B15"
                     /gene_synonym="HLUG4; UDPGT 2B8; UDPGT2B15; UDPGTH3;
                     UGT2B8"
                     /note="UDP glucuronosyltransferase family 2 member B15"
                     /db_xref="GeneID:7366"
                     /db_xref="HGNC:HGNC:12546"
                     /db_xref="MIM:600069"
     CDS             35..1627
                     /gene="UGT2B15"
                     /gene_synonym="HLUG4; UDPGT 2B8; UDPGT2B15; UDPGTH3;
                     UGT2B8"
                     /EC_number="2.4.1.17"
                     /note="UDP-glucuronyltransferase, family 2, beta-15; UDP
                     glycosyltransferase 2B15; UDP-glucuronosyltransferase 2B15;
                     UDP glucuronosyltransferase 2 family, polypeptide B15;
                     UDP-glucuronosyltransferase UGT2B15;
                     UDP-glucuronosyltransferase 2B8; uridine diphosphate
                     glucuronosyltransferase 2 family, member B8; uridine
                     diphosphate glycosyltransferase 2 family, member B15; UDP
                     gycosyltransferase 2 family, member B15; UDP
                     glucuronosyltransferase 2 family, member B8; UDP
                     glucuronosyltransferase 2 family, member 15"
                     /codon_start=1
                     /product="UDP-glucuronosyltransferase 2B15 precursor"
                     /protein_id="NP_001067.2"
                     /db_xref="CCDS:CCDS3524.1"
                     /db_xref="GeneID:7366"
                     /db_xref="HGNC:HGNC:12546"
                     /db_xref="MIM:600069"
                     /translation="MSLKWTSVFLLIQLSCYFSSGSCGKVLVWPTEYSHWINMKTILEE
                     LVQRGHEVTVLTSSASTLVNASKSSAIKLEVYPTSLTKNYLEDSLLKILDRWIYGVSKN
                     TFWSYFSQLQELCWEYYDYSNKLCKDAVLNKKLMMKLQESKFDVILADALNPCGELLAE
                     LFNIPFLYSLRFSVGYTFEKNGGGFLFPPSYVPVVMSELSDQMIFMERIKNMIHMLYFD
                     FWFQIYDLKKWDQFYSEVLGRPTTLFETMGKAEMWLIRTYWDFEFPRPFLPNVDFVGGL
                     HCKPAKPLPKEMEEFVQSSGENGIVVFSLGSMISNMSEESANMIASALAQIPQKVLWRF
                     DGKKPNTLGSNTRLYKWLPQNDLLGHPKTKAFITHGGTNGIYEAIYHGIPMVGIPLFAD
                     QHDNIAHMKAKGAALSVDIRTMSSRDLLNALKSVINDPVYKENVMKLSRIHHDQPMKPL
                     DRAVFWIEFVMRHKGAKHLRVAAHNLTWIQYHSLDVIAFLLACVATVIFIITKFCLFCF
                     RKLAKKGKKKKRD"
     sig_peptide     35..106
                     /gene="UGT2B15"
                     /gene_synonym="HLUG4; UDPGT 2B8; UDPGT2B15; UDPGTH3;
                     UGT2B8"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      2112..2117
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2B15"
                     /gene_synonym="HLUG4; UDPGT 2B8; UDPGT2B15; UDPGTH3;
                     UGT2B8"
                     /note="hexamer: AATAAA"
     polyA_site      2134
                     /gene="UGT2B15"
                     /gene_synonym="HLUG4; UDPGT 2B8; UDPGT2B15; UDPGTH3;
                     UGT2B8"
                     /note="major polyA site"
ORIGIN
        1 aacaactgga aaagaagcat tgcataagac caggatgtct ctgaaatgga cgtcagtctt
       61 tctgctgata cagctcagtt gttactttag ctctggaagc tgtggaaagg tgctagtgtg
      121 gcccacagaa tacagccatt ggataaatat gaagacaatc ctggaagagc ttgttcagag
      181 gggtcatgag gtgactgtgt tgacatcttc ggcttctact cttgtcaatg ccagtaaatc
      241 atctgctatt aaattagaag tttatcctac atctttaact aaaaattatt tggaagattc
      301 tcttctgaaa attctcgata gatggatata tggtgtttca aaaaatacat tttggtcata
      361 tttttcacaa ttacaagaat tgtgttggga atattatgac tacagtaaca agctctgtaa
      421 agatgcagtt ttgaataaga aacttatgat gaaactacaa gagtcaaagt ttgatgtcat
      481 tctggcagat gcccttaatc cctgtggtga gctactggct gaactattta acataccctt
      541 tctgtacagt cttcgattct ctgttggcta cacatttgag aagaatggtg gaggatttct
      601 gttccctcct tcctatgtac ctgttgttat gtcagaatta agtgatcaaa tgattttcat
      661 ggagaggata aaaaatatga tacatatgct ttattttgac ttttggtttc aaatttatga
      721 tctgaagaag tgggaccagt tttatagtga agttctagga agacccacta cattatttga
      781 gacaatgggg aaagctgaaa tgtggctcat tcgaacctat tgggattttg aatttcctcg
      841 cccattctta ccaaatgttg attttgttgg aggacttcac tgtaaaccag ccaaacccct
      901 gcctaaggaa atggaagagt ttgtgcagag ctctggagaa aatggtattg tggtgttttc
      961 tctggggtcg atgatcagta acatgtcaga agaaagtgcc aacatgattg catcagccct
     1021 tgcccagatc ccacaaaagg ttctatggag atttgatggc aagaagccaa atactttagg
     1081 ttccaatact cgactgtaca agtggttacc ccagaatgac cttcttggtc atcccaaaac
     1141 caaagctttt ataactcatg gtggaaccaa tggcatctat gaggcgatct accatgggat
     1201 ccctatggtg ggcattccct tgtttgcgga tcaacatgat aacattgctc acatgaaagc
     1261 caagggagca gccctcagtg tggacatcag gaccatgtca agtagagatt tgctcaatgc
     1321 attgaagtca gtcattaatg accctgtcta taaagagaat gtcatgaaat tatcaagaat
     1381 tcatcatgac caaccaatga agcccctgga tcgagcagtc ttctggattg agtttgtcat
     1441 gcgccacaaa ggagccaagc accttcgagt cgcagctcac aacctcacct ggatccagta
     1501 ccactctttg gatgtgatag cattcctgct ggcctgcgtg gcaactgtga tatttatcat
     1561 cacaaaattt tgcctgtttt gtttccgaaa gcttgccaaa aaaggaaaga agaagaaaag
     1621 agattagtta tatcaaaagc ctgaagtgga atgactgaaa gatgggactc ctcctttatt
     1681 tcagcatgga gggttttaaa tggaggattt cctttttcct gtgacaaaac atcttttcac
     1741 aacttacctt gttaagacaa aatttatttt ccagggattt aatacgtact ttagctgaat
     1801 tattctatgt caatgatttt taagctatga aaaatacaat ggggggaagg atagcatttg
     1861 gagatatacc taatgttaaa tgacgagtta ctggatgcag cacgccaaca tggcacatgt
     1921 atacatatgt agctaacctg cacgttgtgc acatgtaccc taaaacttaa agtataattt
     1981 aaaaaaagca aaaaaaaaaa atacaactct tttttttaaa ccaggaagga aaatgtgaac
     2041 atggaaacaa cttctagtat tggatctgaa aataaagtgt catccaagcc ataaaaaaaa
     2101 aagaaaagaa aaataaaaat aatataaaac ctta
//
LOCUS       NM_001076674            2202 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens transmembrane and ubiquitin like domain containing 2
            (TMUB2), transcript variant 3, mRNA.
ACCESSION   NM_001076674
VERSION     NM_001076674.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2202)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2202)
  AUTHORS   Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X,
            Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X, Xu
            H, Guo M, Pan Z, Chen Y, Ge C, Yang S and Gu J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   3  (bases 1 to 2202)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.224290.1,
            SRR1660803.130558.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000538716.7/ ENSP00000444565.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004596.2, BI906577.1, AL533563.3, AL538440.3 and BM999307.1.
            On Nov 22, 2018 this sequence version replaced NM_001076674.2.
            Transcript Variant: This variant (3) includes an alternate exon
            with an upstream start codon, compared to variant 1. The resulting
            protein (isoform b) has a longer N-terminus, compared to isoform a.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2202
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..2202
                     /gene="TMUB2"
                     /gene_synonym="FP2653"
                     /note="transmembrane and ubiquitin like domain containing
                     2"
                     /db_xref="GeneID:79089"
                     /db_xref="HGNC:HGNC:28459"
     misc_feature    37..39
                     /gene="TMUB2"
                     /gene_synonym="FP2653"
                     /note="upstream in-frame stop codon"
     CDS             172..1137
                     /gene="TMUB2"
                     /gene_synonym="FP2653"
                     /note="isoform b is encoded by transcript variant 3;
                     transmembrane and ubiquitin-like domain-containing protein
                     2"
                     /codon_start=1
                     /product="transmembrane and ubiquitin-like
                     domain-containing protein 2 isoform b"
                     /protein_id="NP_001070142.1"
                     /db_xref="CCDS:CCDS54134.1"
                     /db_xref="GeneID:79089"
                     /db_xref="HGNC:HGNC:28459"
                     /translation="MISRHLQNNLMSVDPASSQAMELSDVTLIEGVGNEVMVVAGVVVL
                     ILALVLAWLSTYVADSGSNQLLGAIVSAGDTSVLHLGHVDHLVAGQGNPEPTELPHPSE
                     GNDEKAEEAGEGRGDSTGEAGAGGGVEPSLEHLLDIQGLPKRQAGAGSSSPEAPLRSED
                     STCLPPSPGLITVRLKFLNDTEELAVARPEDTVGALKSKYFPGQESQMKLIYQGRLLQD
                     PARTLRSLNITDNCVIHCHRSPPGSAVPGPSASLAPSATEPPSLGVNVGSLMVPVFVVL
                     LGVVWYFRINYRQFFTAPATVSLVGVTVFFSFLVFGMYGR"
     misc_feature    277..339
                     /gene="TMUB2"
                     /gene_synonym="FP2653"
                     /note="propagated from UniProtKB/Swiss-Prot (Q71RG4.2);
                     transmembrane region"
     misc_feature    430..564
                     /gene="TMUB2"
                     /gene_synonym="FP2653"
                     /note="propagated from UniProtKB/Swiss-Prot (Q71RG4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    604..681
                     /gene="TMUB2"
                     /gene_synonym="FP2653"
                     /note="propagated from UniProtKB/Swiss-Prot (Q71RG4.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    967..1029
                     /gene="TMUB2"
                     /gene_synonym="FP2653"
                     /note="propagated from UniProtKB/Swiss-Prot (Q71RG4.2);
                     transmembrane region"
     misc_feature    1054..1116
                     /gene="TMUB2"
                     /gene_synonym="FP2653"
                     /note="propagated from UniProtKB/Swiss-Prot (Q71RG4.2);
                     transmembrane region"
     regulatory      1978..1983
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMUB2"
                     /gene_synonym="FP2653"
                     /note="hexamer: AATAAA"
     polyA_site      2004
                     /gene="TMUB2"
                     /gene_synonym="FP2653"
                     /note="major polyA site"
     regulatory      2184..2189
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMUB2"
                     /gene_synonym="FP2653"
                     /note="hexamer: AATAAA"
     polyA_site      2202
                     /gene="TMUB2"
                     /gene_synonym="FP2653"
ORIGIN
        1 aacagcttcc gggagaagcc ggaagagacc ggaccctgaa cagaatcgca gattgccagc
       61 ccttttcccg acccctacgg aaagacgagt ccaggggccg tcctggcgag gtcaaaacat
      121 ttagtctggt cttttcagtg tgccaggcac tgtgccaagt attttgcttc gatgatttca
      181 cgtcatcttc aaaacaacct catgagcgtg gaccctgcca gcagccaggc catggagctc
      241 tctgatgtca ccctcattga gggtgtgggt aatgaggtga tggtggtggc aggtgtggtg
      301 gtgctgattc tagccttggt cctagcttgg ctctctacct acgtagcaga cagcggtagc
      361 aaccagctcc tgggcgctat tgtgtcagca ggcgacacat ccgtcctcca cctggggcat
      421 gtggaccacc tggtggcagg ccaaggcaac cccgagccaa ctgaactccc ccatccatca
      481 gagggtaatg atgagaaggc tgaagaggcg ggtgaaggtc ggggagactc cactggggag
      541 gctggagctg ggggtggtgt tgagcccagc cttgagcatc tccttgacat ccaaggcctg
      601 cccaaaagac aagcaggtgc aggcagcagc agtccagagg cccccctgag atctgaggat
      661 agcacctgcc tccctcccag ccctggcctc atcactgtgc ggctcaaatt cctcaatgat
      721 accgaggagc tggctgtggc taggccagag gataccgtgg gtgccctgaa gagcaaatac
      781 ttccctggac aagaaagcca gatgaaactg atctaccagg gccgcctgct acaagaccca
      841 gcccgcacac tgcgttctct gaacattacc gacaactgtg tgattcactg ccaccgctca
      901 cccccagggt cagctgttcc aggcccctca gcctccttgg ccccctcggc cactgagcca
      961 cccagccttg gtgtcaatgt gggcagcctc atggtgcctg tctttgtggt gctgttgggt
     1021 gtggtctggt acttccgaat caattaccgc caattcttca cagcacctgc cactgtctcc
     1081 ctggtgggag tcaccgtctt cttcagcttc ctagtatttg ggatgtatgg acgataagga
     1141 cataggaaga aaatgaaagg catggtcttt ctcctttacg gcctccccac ttttcctggc
     1201 cagagctggg cccaagggcc ggggagggag gggtggaaag gatgtgatgg aaatctcctc
     1261 cataggacac aggaggcaag tatgcggcct ccccttctca tccacaggag tacagatgtc
     1321 cctcccgtgc gagcacaact caggtagaaa tgaggatgtc atcttccttc acttttaggg
     1381 tcctctgaag gagttcaaag ctgctggcca agctcagtgg ggagcctggg ctctgagatt
     1441 ccctcccacc tgtggttctg actcttccca gtgtcctgca tgtctgcccc cagcacccag
     1501 ggctgcctgc aagggcagct cagcatggcc ccagcacaac tccgtaggga gcctggagta
     1561 tccttccatt tctcagccaa atactcatct tttgagactg aaatcacact ggcgggaatg
     1621 aagattgtgc cagccttctc ttatgggcac ctagccgcct tcaccttctt cctctacccc
     1681 ttagcaggaa tagggtgtcc tcccttcttt caaagcactt tgcttgcatt ttattttatt
     1741 tttttaagag tccttcatag agctcagtca ggaaggggat ggggcaccaa gccaagcccc
     1801 cagcattggg agcggccagg ccacagctgc tgctcccgta gtcctcaggc tgtaagcaag
     1861 agacagcact ggcccttggc cagcgtccta ccctgcccaa ctccaaggac tgggtatgga
     1921 ttgctgggcc ctaggctctt gcttctgggg ctattggagg gtcagtgtct gtgactgaat
     1981 aaagttccat tttgtggtcc tgcagcctct ttctgtgaca gagaatggct ttgcgctgcc
     2041 cccaggaaaa tggtaatgag agtaggtagg ccggggctac caacgggaga tgcagtttat
     2101 ttacaccagc agccatgggg gcagagggaa tacacagcgt ttacaaagtt agctacctgt
     2161 acagaatgga ttacatatgc aaaaataaaa atctcaagac ca
//
LOCUS       NM_001076675            6063 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1,
            mRNA.
ACCESSION   NM_001076675
VERSION     NM_001076675.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6063)
  AUTHORS   Del-Aguila JL, Beitelshees AL, Cooper-Dehoff RM, Chapman AB, Gums
            JG, Bailey K, Gong Y, Turner ST, Johnson JA and Boerwinkle E.
  TITLE     Genome-wide association analyses suggest NELL1 influences adverse
            metabolic response to HCTZ in African Americans
  JOURNAL   Pharmacogenomics J 14 (1), 35-40 (2014)
   PUBMED   23400010
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.128093.1,
            SRR1803611.194313.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467144,
            SAMN03267765 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000601440.6/ ENSP00000469958.1
            RefSeq Select criteria      :: based on manual assertion
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010636.6.
            On Nov 22, 2018 this sequence version replaced NM_001076675.2.
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6063
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p12"
     gene            1..6063
                     /gene="ZNF626"
                     /note="zinc finger protein 626"
                     /db_xref="GeneID:199777"
                     /db_xref="HGNC:HGNC:30461"
     misc_feature    96..98
                     /gene="ZNF626"
                     /note="upstream in-frame stop codon"
     CDS             126..1712
                     /gene="ZNF626"
                     /note="isoform 1 is encoded by transcript variant 1;
                     CTC-513N18.7"
                     /codon_start=1
                     /product="zinc finger protein 626 isoform 1"
                     /protein_id="NP_001070143.1"
                     /db_xref="CCDS:CCDS42535.1"
                     /db_xref="GeneID:199777"
                     /db_xref="HGNC:HGNC:30461"
                     /translation="MGPLQFRDVAIEFSLEEWHCLDTAQRNLYRNVMLENYSNLVFLGI
                     TVSKPDLITCLEQGRKPLTMKRNEMIAKPSVMCSHFAQDLWPEQSMKDSFQKVVLRRYE
                     KCEHDNLQLKKGCISVDECKVHKEGYNELNQCLTTTPRKICQCDKYVKVLHQFPNSNGQ
                     KRGHTGKKPFKYIECGKAFKQFSTLTTHKKIHTGGKPYKCEECGKAFNHSCSLTRHKKI
                     HTGEKPYKCEECGKAFKHSSTLTTHKRNHTGEKPYKCDKCGKAFMSSSTLSKHEIIHTE
                     KKPYKCEECGKAFNRSSTLTTHKIIHTGEKPYKCEECDKAFKYSYTLTTHKRIHTEDKP
                     YKCEECGKAFKYSSTLTTHKRIHTGEKPYKCEECGKAFKRSSDLTTHKIIHTGEKPYKC
                     EECGKAFKYSSNLTTHKKIHTGERPYKCEECGKAFNQSSILTTHRRIHTGEKFYKCEEC
                     GKAFKCSSNLTTHKKIHTGERPYKCEECGKAFNQSSILTTHERIILERNSTNVKNVAKP
                     SSGPHTLLHIR"
     regulatory      3730..3735
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF626"
                     /note="hexamer: AATAAA"
     polyA_site      3753
                     /gene="ZNF626"
                     /note="major polyA site"
     regulatory      5856..5861
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF626"
                     /note="hexamer: AATAAA"
     polyA_site      5878
                     /gene="ZNF626"
     regulatory      5908..5913
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF626"
                     /note="hexamer: AATAAA"
     polyA_site      5931
                     /gene="ZNF626"
                     /note="major polyA site"
     regulatory      6040..6045
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF626"
                     /note="hexamer: AATAAA"
     polyA_site      6063
                     /gene="ZNF626"
ORIGIN
        1 gtctctcgct gcagtcagag ctccaggtct ggttcttctc ctaaaggccc aggctgtgtg
       61 gccccgtgtc ctgcaggtat tgggagatcc acagctaaga caccgggacc tcctggaagc
      121 caaaaatggg accattgcaa tttagagatg tggccataga attctctctg gaggagtggc
      181 attgcctgga cactgcacag cggaatttat ataggaatgt gatgttagag aactacagta
      241 acctggtctt ccttggtatt actgtttcta agccagacct gatcacctgt ctggagcaag
      301 gaagaaaacc tttgaccatg aagagaaatg agatgatagc caaaccctca gtaatgtgtt
      361 ctcattttgc ccaagacctt tggccagagc agagcatgaa agattctttc caaaaagtgg
      421 tactgagaag atatgaaaaa tgtgaacatg acaatttaca gttaaaaaaa ggatgtataa
      481 gtgtggatga gtgtaaggtg cacaaagaag gttataatga acttaaccaa tgtttgacaa
      541 ctaccccaag aaaaatatgt caatgtgata aatatgtgaa agtccttcat caatttccaa
      601 attcaaacgg acaaaagaga ggacatactg ggaaaaaacc tttcaaatat atagaatgtg
      661 gcaaagcttt taagcagttc tcaactctta ctacacataa gaaaattcat actggaggga
      721 aaccctacaa atgtgaagaa tgtggcaaag cctttaacca ctcttgtagc cttactagac
      781 ataagaaaat tcatactgga gagaaaccct acaaatgtga agaatgtggc aaagccttta
      841 agcactcctc cactcttact acacataaga gaaatcatac tggagagaaa ccctacaagt
      901 gtgataaatg tggcaaagcc tttatgtcat cctcaaccct tagtaaacat gagataattc
      961 atacggaaaa gaaaccctac aaatgtgaag aatgtggcaa agccttcaac cggtcctcaa
     1021 cccttactac acataagata attcatactg gagaaaaacc ctacaaatgt gaagaatgtg
     1081 acaaagcctt taagtactcc tataccctta ctacacataa aagaattcat actgaagaca
     1141 aaccctacaa atgtgaagaa tgtggcaaag cctttaagta ctcctctacc cttactacac
     1201 ataagagaat tcatactgga gagaaaccct acaaatgtga agaatgtggc aaagccttca
     1261 agcggtcttc agaccttact acgcataaga taattcatac tggagagaaa ccctacaaat
     1321 gtgaagaatg tggcaaagct tttaagtact cctctaacct tactacacat aagaaaattc
     1381 atactggaga gagaccctac aaatgtgaag aatgtggcaa agccttcaac cagtcctcaa
     1441 tccttactac acataggaga attcatactg gagagaaatt ctacaaatgt gaagaatgtg
     1501 gcaaagcttt taagtgctcc tctaacctta ctacacataa gaaaattcat actggagaga
     1561 gaccctacaa atgtgaagaa tgtggcaaag ccttcaacca gtcctcaatc cttactacac
     1621 atgagagaat catactggag agaaattcta caaatgtgaa gaatgtggca aagccttcaa
     1681 gcggtcctca caccttacta cacataagat aattcatact ggagagaaat tctacaaatg
     1741 tgaagaatgt gacaaagctt ttaagcattt ctctaacctt actacacata agaaaattca
     1801 tactggaaaa aaaccctaca gatgtgaaga atgtggcaaa gcctttaagc actcctctaa
     1861 acttactaca cataagagat ttcatactgg agagaaaccc tacagatgtg aataatgtgg
     1921 taaagctttt cacctatcct cacaccttac tgcacataag ataattcata ctggagagaa
     1981 accatgtgaa tgtgatgaat ggggaaaatc ttttaaccag ccctcaattt ctaactaaga
     2041 attgatatga aatataaact ctacaaatat aaagaatgtg acagattttt taaggaactt
     2101 ctcaaccttt attacacata attcatactg gaaagaaacc ctacaagtgt gaagaatgtg
     2161 gcaaagcata taacaagttc tgtctttttt tttttttttt tgagatggag tttcaactct
     2221 tgtcacccag tctggtgtgc aatagcacag tctcggctca ctgcaacctc cgccttctgg
     2281 gttcaatcca ttctcctgcc tcaacctccc aagtaagggg gattacaggt gcccaccccc
     2341 atgcccagct aacttttgta tttttagtag agacaaggtt acaccatgtt tgtcaggctg
     2401 gtatccaacc cctgacctca catgatccac ccacctcagc ctcctaaagt gttgcaatta
     2461 caggcatgag ccaccatgcc tggccacaag ttcttactat taagagacat ggtgataatt
     2521 cattctgaag aggaactcta caaacctgaa agatgtgaca gtgctttttt caacacttcc
     2581 atcctttcta tacataaaaa atttatacta gtgtgaaacc ctagaaatat ataaaatgtg
     2641 aaacagcctt tatatggttg ccacatttga tagtaagata attcatactg gcaaaattcc
     2701 tacaagcatg aagaatgtgg caaaaccttt aatcaatgtg tacatcttat tttgcaggaa
     2761 agctattatc cttgagaaaa attgtacaaa tataaagaat atggaaaacc cattaatgcc
     2821 tactcacatc ttactcaaca taagaaggtt catagttaat gaaagcatta aaagtgcaat
     2881 tactgtcaaa aaatctttca gaaaatataa gcctttaaag tgaagaagag tatttattct
     2941 gaagacaacc attacaaata tacaggaggt ttattacaca cattttgtac tagaggaaaa
     3001 tcctgaagca gttgctcaag ctttgctcaa catcagagaa cttatattgg agaagggtcc
     3061 tgcaaatgta atgaatttgg aaacacttta aaaaaaaaaa actacagctt agaaaacagc
     3121 agagtttata ctaaaatata tttttgcaga tgcagtaaac atgaaaaaat atttaattca
     3181 aaattaattg tatgtaaata tcagaattta cagaataact aaggcactga cacttcagac
     3241 attacattaa ataagagtgt tgagtatata aatgaattca caactaaagt tgttaaattt
     3301 gtatataagt ttgtataaat tagtatataa ctttaaaagg agattttttg aagctttgta
     3361 tttacattga aagtatattt gtttccttga aaacaatttt tttgaaaagt gaatgatgta
     3421 atacagcttt caaattatgc tgttacttta ttatattcac gtgaaagtat gtgatcaatt
     3481 gttgctgcat cagagatatt agagattctt tatgagttgg gcattcttta tgaccttttc
     3541 tataaaacag taaggacatt aaaatgtaag atgcatgacg aaaatataag tggagaggct
     3601 cattgtagtt aacctatatt aagtaatgtt taaggtaggt gttcagagta atacttttct
     3661 acattatact gagagaaaga aattataaat taaagtatat caattatttt actaatttta
     3721 ctgttacgta ataaaatgca atatatttaa aaattgttag atgatgtgtg aacttaactt
     3781 atattttatt tacttactta acttttcttt tgagatggag tcttgctctg tcacccaggc
     3841 tggagggcag cagtgcagtc tcagcacaat gactgcaacc tccacctccc aagttcaaga
     3901 aattctcctg cctcagcctc ccgagtagtg gggactacag gtgcgtgaca ccacgcctgg
     3961 ctaattttta tatttttaat agacatgggg tttccccata ttggtcaggc tagtctcaaa
     4021 ctcctgagct caagcgatcc acccacctca ggctctcaaa gtgttgggat tataggtgtg
     4081 agccaatatg tccagcctaa ttttatttta ttttttacca tcttaaaact attgtgcatt
     4141 taatgaagca ttattatgcc actaacttta acctatccgg ccttactcaa atggtgtaag
     4201 caaaagatgg aagaagtata ctatttggta tgtagtggaa tgtcatcact agtaatcact
     4261 ttgccagtaa actgcaaatg aagaatattg ttcccgttag ttaaattttt aatctttttt
     4321 cttaatttat tattactatc tgtgagtata tagtatgtgt atatatgtct tatagagaat
     4381 attttgattc aggcatacaa tatgtagtaa ttacattagg gtaaataagg tatctgtcac
     4441 ctctagcatt tatcctttct aatccaaaca gtgtaattat acacttttag ttacttttaa
     4501 atgtccaatt aaattgtaat tgactacagg gtgattttta tggtcataat aaaaattata
     4561 cagaaatata aatagaatat gggctggacg cagtggctca tgcctgtaat cccagcactt
     4621 tggtaggcga cgtcgggcag atcatgaggt caggagttca agaccagcct gaccaacatt
     4681 gtgaaactct ctactaaaac aacaaaaatt agttgggcat ggtggtgcac ccgtattcct
     4741 agctactcgg gaagctgagg caggagaatg gcttgaacct gggaggtgga ggtttcagtg
     4801 agctgagata gcaccactgc actccagcct gggtgacaga cggacactcc atctcaaaaa
     4861 gaaagaaaaa agccaggaca gtggcttaca cctgtaatcc cagcactttg ggaggcccag
     4921 gcaggtggat catgaggtca ggagatcaag accatcctgg ctaacacgtt gaaaccctgt
     4981 ctctactaaa aataaattag ctgggcgtgg tggtgggcgc ctgtagtccc agctactcca
     5041 gaggctgagg cgggagaatg gtgtaaccca ggaggcagag gttgcagtga gccgagatcg
     5101 tgccactgca ctccagcctg ggcaacagag caagactccg tcacaaaaaa aaaaagaaaa
     5161 aatacggcca tgtgcagtgc ctcatgccta ttatcccagc aatttcggag gctgaggcag
     5221 gtgtgttgct tgagctcagg agttcaagac cagcctcgcc aatgtggtga aaccctgtct
     5281 ctactaaaaa tagaaaaatt agccagtcat ggtggcgcac acctggaggc tgaggtagga
     5341 gaatcacttg aacttgggag gtggagattg cagtgagcca agattgtgct gctgcactcc
     5401 agcctgggtg acagagtgat gagactcctc aaaggaaaaa aaattacatt tctgagtcct
     5461 gaaaaattat taataaatat ttgttatata gtttctttga acatgtggtc actctgcctg
     5521 caaacgtaaa gacttttaat tttcatagag tgaaatatac acatattcct ctgaagataa
     5581 accttaggtg taagaaaatt atgaaatgag tgtttggtaa atatgcattt gtacatattt
     5641 tcagaagaaa acgcaattat tggaacaaaa taagttttta ggtgattaat ggaaaactaa
     5701 acaccttgaa tatgctgaaa gcaaatgtat actttctgct ttgtatggaa tttattaata
     5761 taaaatttta tggcttatgg ctcggattct ccccagaatc cgtgtattaa agcacaggca
     5821 actttgtctc cagaaataac actcttgagt acaacaataa aagccctctt caaacacact
     5881 caaaaaatta tttttaacgc ttattttaat aaaaatttaa ccaaaattga ataattggat
     5941 acatttttat tgttctatgt gtgtgtgaat gtataaaatg acacataaag gaataataat
     6001 ttaagccaga aaaaaagatg ttagttaata tttgtaatga ataaaactgg aaagtagtta
     6061 tta
//
LOCUS       NM_001076678            5023 bp    mRNA    linear   PRI 27-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3,
            mRNA.
ACCESSION   NM_001076678
VERSION     NM_001076678.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5023)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX648842.1, SRR1660803.31545.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000392288.7/ ENSP00000376110.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX648842.1 and AC010615.9.
            On Jun 2, 2019 this sequence version replaced NM_001076678.2.
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest isoform (3).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5023
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p12"
     gene            1..5023
                     /gene="ZNF493"
                     /note="zinc finger protein 493"
                     /db_xref="GeneID:284443"
                     /db_xref="HGNC:HGNC:23708"
     misc_feature    73..75
                     /gene="ZNF493"
                     /note="upstream in-frame stop codon"
     CDS             106..2430
                     /gene="ZNF493"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /codon_start=1
                     /product="zinc finger protein 493 isoform 3"
                     /protein_id="NP_001070146.1"
                     /db_xref="CCDS:CCDS42536.1"
                     /db_xref="GeneID:284443"
                     /db_xref="HGNC:HGNC:23708"
                     /translation="MPGPPESLDMGPLTFRDVAIEFSLEEWQCLDTAQQDLYRKVMLEN
                     YRNLVFLGIAVSKPDLVTCLEQGKDPWNMKGHSTVVKPPVICSHFAEDFCPGPGIKDSF
                     QKVILREYVKCGHKDLQLRKGCKSMNECNVHKEGYNELNQYLTTTQSKIFQCDKYVKVF
                     HKLLNSNRHNTKHTGKKPFKCKKCGKSFCMLLHLCQHKRIHIRENSYRCEECGKAFIWF
                     STLTRHRRVHTGEKSYKYECGKSFNQDSNLTTHKRIHTGQKPYKCEECGTSFYQFSYLT
                     RHKLIHTREKPYKCEQYGKTFNQSSTLTGHKIIHNGEKPYKCEECGKAFSIFSTPTKHK
                     IIHTEEKSHRCEEYCKAYKESSHLTTHKRIHTGEKPYKCEECGKAFSIFSTLTKHKIIH
                     TEEKSHRCEECGKAYKESSHLTTHKRIHTGEKPYKCEECGKTFSVFSILTKHKIIHTEE
                     KPYKCEECGKAFKRSSTLTKHRIIHTEEKPYKCEECGKAFNQSSTLSIHKIIHTGEKPY
                     KCEECGKAFKRSSTLTIHKMIHTGEKPYKCEECGKAFNRSSHLTTHKRIHTGHKPYKCK
                     ECGKSFSVFSTLTKHKIIHTDKKPYKCEECGKAFNRSSILSIHKKIHTGEKPYKCEECG
                     KAFKRSSHLAGHKQIHSVQKPYKCEECGKAFSIFSTLTKHKIIHTEEKPYKCEKCGKTF
                     YRFSNLNTHKIIHTGEKPCKCEECGKAFNHSSNLIKHKLIHTGDKPYKCEACGKAFRRS
                     SHLSRHKIIHIGIHTEETVQK"
     regulatory      4412..4417
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF493"
                     /note="hexamer: ATTACA"
     polyA_site      4435
                     /gene="ZNF493"
     regulatory      4909..4914
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF493"
                     /note="hexamer: AATAAA"
     polyA_site      4941
                     /gene="ZNF493"
                     /note="major polyA site"
     regulatory      5000..5005
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF493"
                     /note="hexamer: AATAAA"
     polyA_site      5023
                     /gene="ZNF493"
ORIGIN
        1 attgtttctc tctgctgccg gagctccagg tctacccttc actgctctgt gtcctcagcg
       61 tgtgtggctt cgtgacctga agatactggg aaatccatag ctaagatgcc aggaccccct
      121 gaaagcctag acatggggcc gttgacattt agggatgtgg ccatagaatt ctctctggag
      181 gagtggcaat gcctggacac tgctcagcag gatttgtata ggaaagtgat gttagagaac
      241 tacagaaacc tggtcttctt gggtattgct gtctctaagc cagatctggt cacctgtctg
      301 gagcaaggaa aagatccctg gaatatgaag ggacacagta cggtagtcaa acccccagtt
      361 atatgttctc attttgctga agacttttgc ccagggccag gcattaaaga ttcttttcaa
      421 aaagtgatac tgagagaata tgtaaaatgt ggacataagg atttacagtt aagaaaagga
      481 tgtaaaagta tgaatgagtg taatgtgcac aaagaaggtt ataatgaact aaaccagtat
      541 ttgacaacta cccagagcaa aatatttcaa tgtgataaat atgtgaaagt ctttcataaa
      601 cttttaaatt caaatagaca taacacaaaa catactggaa agaaaccttt caaatgtaaa
      661 aaatgtggca aatcattttg catgctttta cacctatgtc agcataaaag aattcatatt
      721 agagagaatt cttaccgatg tgaagaatgt ggcaaagcct ttatctggtt ttcaaccctt
      781 actagacaca ggagagttca tactggagag aaatcctaca aatatgaatg tggcaaatct
      841 tttaaccagg actcaaacct tactacacat aagagaattc atactggaca gaaaccctac
      901 aaatgtgaag aatgtggcac atctttctac caattctcat accttactag gcataagcta
      961 attcatacta gagagaaacc ctataaatgt gaacaatatg gcaaaacttt taaccaatct
     1021 tcaaccctta ctggacataa gataattcat aatggagaaa aaccctataa atgtgaagaa
     1081 tgtggcaaag cctttagtat tttctcaacc cctactaaac ataagataat tcacactgaa
     1141 gagaaatccc acagatgtga agaatattgc aaagcttata aggagtcctc acaccttact
     1201 acacataaaa gaattcatac tggagagaaa ccctacaaat gtgaagaatg tggcaaagcc
     1261 tttagtattt tctcaaccct tactaaacat aagataattc acactgaaga gaaatcccac
     1321 agatgtgaag aatgtggcaa agcttataag gagtcttcac accttactac acataaaaga
     1381 attcatactg gagagaaacc ctacaaatgt gaagaatgtg gcaaaacctt tagtgtattc
     1441 tcaattctta ctaaacataa aataattcat acagaagaga aaccctacaa atgtgaagaa
     1501 tgtggcaaag cttttaaacg atcttcaacc cttactaaac ataggataat tcatactgaa
     1561 gagaaaccct acaaatgtga agaatgtggc aaagctttta accaatcttc aacccttagt
     1621 atacataaaa taattcatac tggagaaaaa ccctacaaat gtgaagaatg tggcaaagct
     1681 tttaaacgat cttcaaccct tactatacat aaaatgattc acactggaga aaaaccctac
     1741 aaatgtgaag aatgtggcaa agcttttaat cggtcctcac accttactac acataagaga
     1801 attcatactg gacacaaacc ctacaaatgt aaagaatgtg gcaaatcctt tagtgtattc
     1861 tcaaccctta ctaaacacaa gataattcat actgataaga aaccctacaa atgtgaagaa
     1921 tgtggcaaag cttttaaccg atcttcaatc cttagtatac ataagaaaat tcatactgga
     1981 gaaaaaccct acaaatgtga agaatgtggc aaagctttta agcggtcctc acacctcgct
     2041 gggcacaagc aaattcatag tgtacaaaaa ccctacaaat gtgaagaatg tggcaaagcc
     2101 tttagtatat tctcaaccct tactaaacat aagataattc atactgaaga gaaaccctac
     2161 aaatgtgaaa aatgtggcaa aactttctac cgattctcaa accttaatac gcataagata
     2221 attcatactg gagagaaacc ttgcaaatgt gaagaatgtg gcaaagcttt taaccattcc
     2281 tcaaacctta ttaaacataa gctaattcat actggagaca aaccctacaa atgtgaagca
     2341 tgtggcaaag cttttaggcg gtcttcacat cttagtagac ataagataat tcatattgga
     2401 attcatactg aagagactgt acaaaagtga agaatgtggc aaaggccttt actgctccta
     2461 ttcccttact aaagaatgtg gcaaagcttt tcaccagtac tttaccctta atacacataa
     2521 gataattaat gctggagaga aaccctacaa atgtgaagaa tgtggcaaag atttctattg
     2581 attctcatac cttactaaat ataagataat tcatattgga gagaaattct acagatgtga
     2641 agaatgtggc aaaggcttta attagttctc atcccttact aaacataaga gaattcatac
     2701 catagagaaa tcctacaaat atgaagaatg tgacaaagct tttaaccact tctcaaccct
     2761 gcctacacgt aagataattc atactggaag gaaaccctac aaatatgagg aatgtctcaa
     2821 agctttttac tgattcttat accttactaa acataaaata attcataaag gagataaatt
     2881 atacaaatgt gaagaatgtg gcaaagcttt taacaaatcc tcatccatta gtaaacataa
     2941 gataattcat actggagaga aaacctacaa atgtgaggaa tgtggcaaag cctttagcct
     3001 gtccctccaa tttactgcac ataagataat ttatactgga gagaagccct acaaatgtga
     3061 aaaatgtggc aaacctttta accaatcctc aacccttact acacattaga taattcatgc
     3121 tggagagaaa ccctacaaat gtgaaaaatg tggcaaagct tttaaccaat tttcaaacct
     3181 tactaaacat aagataactc atactggaga aaaatcttac aaatgtgaag aatgtggcaa
     3241 agcctttatc cagtcctcaa ctcctagtaa acataattaa tgatggagag aaaccataca
     3301 actgtgaaga atgtggcaaa gcttttaacc agtcctcaaa ctttattgaa caaaataatt
     3361 catacaggag agaaacccta caaatgtgaa gaatgtgaca aagcctttaa ccagtcctca
     3421 atttttacta aacataagaa aattcatact ggagagaaac cctatgattg tgaaaaatat
     3481 ggcaaaggct ttaactagtc ctcagttctt aacacacata cgataattct tactgcagag
     3541 aaactctaca aaccagtaag atgtgacagt gcttctgaca acatctcaaa cttttctaat
     3601 cataaaagaa atcatattgg tgagaaatcc tagaaatgtg gagaatgtaa caaagtattt
     3661 aaatggttgt cacacttgat tataggtaat attcatattg gaaaaatttc ctacaagtaa
     3721 gaacaatgtg gcaaagtttt taactaatac accttattgc acagaaaatc atttatattt
     3781 gagaaaaatt gtagaaatat agactgtgaa aaagacgtca atatctgctc acatcttact
     3841 aaacaccaga gagttcatgc ttaataaaag catgataagt gcaattactg ccaaaagatc
     3901 tttcagaaaa tattatcctt taaagtgaag gagagtattt atattaaaga tgaacattac
     3961 aaccataaag agggttgaag tacctttact tgtatcagat cttattgtcc acattttgta
     4021 ctacagaaaa actctgaaga ggtcactcaa actttgttca acatcaggga atttatattg
     4081 gagagctgtc ttgcaaatgt aataaatttg ggaaaacaaa ttttcaaaaa ctacagctta
     4141 gaaaacacca gagtttatac gaaaatatat tttcaaaggt gtagtaaaaa taaaaaaaat
     4201 tttaatccaa atttgtctat gtaaatacca gaatttatag tagaaatata tgaggaagcg
     4261 acacttcgaa tattctacta aatgagagtt ctgagtatag aaaataaaac taaagttggt
     4321 agaaaaatta tttgtatata atgttaagag gagtaaaaga ttttttgtag aataataact
     4381 atattcggat tatactttgt ttcttgaaaa aattacagat tttttgaaaa gcaaatgatg
     4441 taactcaact cattattttc tgctgtttct tcattcttat tcacttgtga aagcttgtga
     4501 tcatttgttg ctgcatcaga ggtatgagag attcttcttc attagatggg cattatttat
     4561 gatcttttct atggatgagt aagaatatta aaatgtaaga tgcatggtga aaatctaagt
     4621 ggagaggttc tttgtggtta acttatacta ttgagtgatg cacaaggtag gtgttaagag
     4681 taatattctt ttgcattatg agaaaactag tatattattc atatatttta ctaattgtac
     4741 tttttttatt atactttaag ttttagggta catgtgcaca atgtgcaggt tagttacata
     4801 tgtatacatg tgccatgctg gtgcgctgca cccactaact cgtcatctag cattaggtat
     4861 atctcccaat gctatccgtc ccccctcccc ccaattgtac ttttatataa taaaatgcag
     4921 tacattttaa aaaattttaa attctgtgtg aaggtaactg tttcaacatt tttaacatgg
     4981 taaatattat tgtgcattca ataaagtgtt gttatgccac aaa
//
LOCUS       NM_001076680            1419 bp    mRNA    linear   PRI 09-JUL-2023
DEFINITION  Homo sapiens LYR motif containing 9 (LYRM9), mRNA.
ACCESSION   NM_001076680
VERSION     NM_001076680.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1419)
  AUTHORS   Dibley MG, Formosa LE, Lyu B, Reljic B, McGann D, Muellner-Wong L,
            Kraus F, Sharpe AJ, Stroud DA and Ryan MT.
  TITLE     The Mitochondrial Acyl-carrier Protein Interaction Network
            Highlights Important Roles for LYRM Family Members in Complex I and
            Mitoribosome Assembly
  JOURNAL   Mol Cell Proteomics 19 (1), 65-77 (2020)
   PUBMED   31666358
REFERENCE   2  (bases 1 to 1419)
  AUTHORS   van der Valk RJ, Duijts L, Timpson NJ, Salam MT, Standl M, Curtin
            JA, Genuneit J, Kerhof M, Kreiner-Moller E, Caceres A, Gref A, Liang
            LL, Taal HR, Bouzigon E, Demenais F, Nadif R, Ober C, Thompson EE,
            Estrada K, Hofman A, Uitterlinden AG, van Duijn C, Rivadeneira F, Li
            X, Eckel SP, Berhane K, Gauderman WJ, Granell R, Evans DM, St
            Pourcain B, McArdle W, Kemp JP, Smith GD, Tiesler CM, Flexeder C,
            Simpson A, Murray CS, Fuchs O, Postma DS, Bonnelykke K, Torrent M,
            Andersson M, Sleiman P, Hakonarson H, Cookson WO, Moffatt MF,
            Paternoster L, Melen E, Sunyer J, Bisgaard H, Koppelman GH, Ege M,
            Custovic A, Heinrich J, Gilliland FD, Henderson AJ, Jaddoe VW and de
            Jongste JC.
  CONSRTM   EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium
  TITLE     Fraction of exhaled nitric oxide values in childhood are associated
            with 17q11.2-q12 and 17q12-q21 variants
  JOURNAL   J Allergy Clin Immunol 134 (1), 46-55 (2014)
   PUBMED   24315451
  REMARK    GeneRIF: 3 SNPs associated with the fraction of exhaled nitric oxide
            in childhood asthma are rs3751972 in LYRM9; rs944722 in NOS2; and
            rs8069176 near GSDMB; all at 17q12-q21.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.1744366.1,
            SRR18074967.2156758.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000379102.8/ ENSP00000368396.3
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB474433.1, DR155808.1, AC005697.1 and AI804732.1.
            On Feb 27, 2020 this sequence version replaced NM_001076680.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1419
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..1419
                     /gene="LYRM9"
                     /gene_synonym="C17orf108; HSD24"
                     /note="LYR motif containing 9"
                     /db_xref="GeneID:201229"
                     /db_xref="HGNC:HGNC:27314"
     CDS             68..304
                     /gene="LYRM9"
                     /gene_synonym="C17orf108; HSD24"
                     /note="UPF0631 protein C17orf108"
                     /codon_start=1
                     /product="LYR motif-containing protein 9"
                     /protein_id="NP_001070148.1"
                     /db_xref="CCDS:CCDS45631.1"
                     /db_xref="GeneID:201229"
                     /db_xref="HGNC:HGNC:27314"
                     /translation="MAPLPGAELVRRPLQLYRYLLRCCQQLPTKGIQQHYKHAVRQSFR
                     VHSDEDNPERIQQIIKRAIEDADWIMNKYKKQN"
     regulatory      1401..1406
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LYRM9"
                     /gene_synonym="C17orf108; HSD24"
                     /note="hexamer: AATATA"
     polyA_site      1419
                     /gene="LYRM9"
                     /gene_synonym="C17orf108; HSD24"
                     /note="major polyA site"
ORIGIN
        1 gcactcgtcg ccgcggcggc gtccggggct ggcgttcccc tggaggctgg gacagagggt
       61 ctcacggatg gccccgctgc caggagcaga actggttcgg aggccactgc agctctaccg
      121 atacttgctg cgctgttgcc agcagctgcc gaccaagggc atccagcagc attacaagca
      181 tgctgtcagg cagagttttc gggttcattc agatgaagac aaccctgaga gaatccagca
      241 gattattaaa agagccattg aagatgctga ctggatcatg aacaaatata aaaaacaaaa
      301 ctgagagctc cgagggtgag ccttcctggc ctctggaagt tgagaggccc ctcttctgga
      361 gctcagcagc agcagctggt ttggaagagc cattggcctt gttggctgaa agccagaaat
      421 caggggagaa gctgaccttg ctccagaggc tcctcttgcc gcggccatgt tgctagcatc
      481 ctttatgttt gcacttccag ccacttacga tgtgaaattt ggggagaatg tagtattttt
      541 ttgcttcttt tgtgtgtttt ttatttttgt gtttttgttc ttttactttt ctctgaaagt
      601 gattcattta ttctggagat ctctttatca ttctctgagt cccagagcag atgtcccctc
      661 aggtagcaac ctgtacagaa gaaagcacgt gggttttaga accagacaga tctggatttg
      721 aatcccagat gcaataagat gaaggtgaag tgcctcacac aggatgtggc acatgacagt
      781 gcctgaaggg ctcccttcaa ggaagccgtc ctgccccgcc ccctcctctg ctcctgcagc
      841 gccctgcaca gctctgctcc ccgcatgcac cgcatcgggt ctcagttttt tgtttgcgag
      901 cttgccctgt ccctgcttgt agcccctgag ccctcacagt tgtcacacac ccagcagtct
      961 gccaaggagc tgcttttcct gactactgtc tctccatgcc tagggaagtc aaagccctgg
     1021 gccttgcctt cagggagttg acagtgtcct tgaagtggtg aagtgcccac cacatgaacc
     1081 aaggagagac gccaaagcag ctgccatgga ctctggcctg tccaagcctc tgtgcacctg
     1141 cagtctcttt ccactggcac ttccctgctt tgctaccatc gtggaagaat ggaagggagg
     1201 gggagaaggt gggtgggctc agggagaacg gccagagtgg ccagaagatg cagagagaag
     1261 ccccactggg atctgagtat tccccaaggg cactcagcca cagggatgaa ctagtgtttg
     1321 tttgtatcct tgcagttatg tgacttaaag tgactcagag atatctatgt atgcgagtgt
     1381 actccgctgg caatgaagta aatatatcaa tttgtggaa
//
LOCUS       NM_001076778            2994 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens family with sequence similarity 107 member A (FAM107A),
            transcript variant 2, mRNA.
ACCESSION   NM_001076778
VERSION     NM_001076778.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2994)
  AUTHORS   Ou L, Wei Z, Xu J, Li W, Zhou Y, Wang Y and Shi B.
  TITLE     FAM107A as a Tumor Suppressor in Bladder Cancer Inhibits Cell
            Proliferation, Migration, and Invasion
  JOURNAL   Ann Clin Lab Sci 52 (2), 260-268 (2022)
   PUBMED   35414505
  REMARK    GeneRIF: FAM107A as a Tumor Suppressor in Bladder Cancer Inhibits
            Cell Proliferation, Migration, and Invasion.
REFERENCE   2  (bases 1 to 2994)
  AUTHORS   Wang D, Feng M, Ma X, Tao K and Wang G.
  TITLE     Transcription factor SP1-induced microRNA-146b-3p facilitates the
            progression and metastasis of colorectal cancer via regulating
            FAM107A
  JOURNAL   Life Sci 277, 119398 (2021)
   PUBMED   33831429
  REMARK    GeneRIF: Transcription factor SP1-induced microRNA-146b-3p
            facilitates the progression and metastasis of colorectal cancer via
            regulating FAM107A.
REFERENCE   3  (bases 1 to 2994)
  AUTHORS   Xu Y, Kim YH, Jeong P, Piao XM, Byun YJ, Kang HW, Kim WT, Lee JY,
            Kim IY, Moon SK, Choi YH, Yun SJ and Kim WJ.
  TITLE     Diagnostic value of combined IQGAP3/BMP4 and IQGAP3/FAM107A
            expression ratios in urinary cell-free DNA for discriminating
            bladder cancer from hematuria
  JOURNAL   Urol Oncol 37 (1), 86-96 (2019)
   PUBMED   30446454
  REMARK    GeneRIF: Both IQGAP3/BMP4 and IQGAP3/FAM107A ratios in ucfDNA were
            significantly higher in patients with BC than in those with
            hematuria.
REFERENCE   4  (bases 1 to 2994)
  AUTHORS   Ma YS, Wu ZJ, Bai RZ, Dong H, Xie BX, Wu XH, Hang XS, Liu AN, Jiang
            XH, Wang GR, Jiang JJ, Xu WH, Chen XP, Tan GH, Fu D, Liu JB and Liu
            Q.
  TITLE     DRR1 promotes glioblastoma cell invasion and epithelial-mesenchymal
            transition via regulating AKT activation
  JOURNAL   Cancer Lett 423, 86-94 (2018)
   PUBMED   29548818
  REMARK    GeneRIF: Results showed that DRR1 is overexpressed in glioblastoma
            multiforme (GBM) tissues. Its overexpression is associated with
            tumor progression and poor clinical outcome of GBM patients, which
            indicates that DRR1 might be a novel prognostic marker of GBM. More
            results indicated that DRR1 was involved in GBM invasion and
            progression possibly through the induction of EMT as activated by
            phosphorylation of AKT.
REFERENCE   5  (bases 1 to 2994)
  AUTHORS   Kiwerska K, Szaumkessel M, Paczkowska J, Bodnar M, Byzia E, Kowal E,
            Kostrzewska-Poczekaj M, Janiszewska J, Bednarek K, Jarmuz-Szymczak
            M, Kalinowicz E, Wierzbicka M, Grenman R, Szyfter K, Marszalek A and
            Giefing M.
  TITLE     Combined deletion and DNA methylation result in silencing of FAM107A
            gene in laryngeal tumors
  JOURNAL   Sci Rep 7 (1), 5386 (2017)
   PUBMED   28710449
  REMARK    GeneRIF: FAM107A gene is down-regulated in laryngeal tumors.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2994)
  AUTHORS   Awakura Y, Nakamura E, Ito N, Kamoto T and Ogawa O.
  TITLE     Methylation-associated silencing of TU3A in human cancers
  JOURNAL   Int J Oncol 33 (4), 893-899 (2008)
   PUBMED   18813805
  REMARK    GeneRIF: TU3A is epigenetically inactivated in human cancer
REFERENCE   7  (bases 1 to 2994)
  AUTHORS   Kim JM, Lee KH, Jeon YJ, Oh JH, Jeong SY, Song IS, Kim JM, Lee DS
            and Kim NS.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
REFERENCE   8  (bases 1 to 2994)
  AUTHORS   Kholodnyuk ID, Kozireva S, Kost-Alimova M, Kashuba V, Klein G and
            Imreh S.
  TITLE     Down regulation of 3p genes, LTF, SLC38A3 and DRR1, upon growth of
            human chromosome 3-mouse fibrosarcoma hybrids in severe combined
            immunodeficiency mice
  JOURNAL   Int J Cancer 119 (1), 99-107 (2006)
   PUBMED   16432833
  REMARK    GeneRIF: Expression of the down-regulated in renal cell carcinoma
            gene (DRR1) gene at 3p14.2 was lost in 7 and down regulated in 2
            'chr3+' tumours.
REFERENCE   9  (bases 1 to 2994)
  AUTHORS   Wang L, Darling J, Zhang JS, Liu W, Qian J, Bostwick D, Hartmann L,
            Jenkins R, Bardenhauer W, Schutte J, Opalka B and Smith DI.
  TITLE     Loss of expression of the DRR 1 gene at chromosomal segment 3p21.1
            in renal cell carcinoma
  JOURNAL   Genes Chromosomes Cancer 27 (1), 1-10 (2000)
   PUBMED   10564580
REFERENCE   10  (bases 1 to 2994)
  AUTHORS   Yamato T, Orikasa K, Fukushige S, Orikasa S and Horii A.
  TITLE     Isolation and characterization of the novel gene, TU3A, in a
            commonly deleted region on 3p14.3-->p14.2 in renal cell carcinoma
  JOURNAL   Cytogenet Cell Genet 87 (3-4), 291-295 (1999)
   PUBMED   10702698
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF089853.1, SRR1803616.258378.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2145743,
            SAMEA2157437 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000360997.7/ ENSP00000354270.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX645008.1, AL050264.1, EU569833.1 and AF089853.1.
            On Nov 23, 2018 this sequence version replaced NM_001076778.2.
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Both variants 1 and 2 encode the same
            isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2994
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.3-p14.2"
     gene            1..2994
                     /gene="FAM107A"
                     /gene_synonym="DRR1; TU3A"
                     /note="family with sequence similarity 107 member A"
                     /db_xref="GeneID:11170"
                     /db_xref="HGNC:HGNC:30827"
                     /db_xref="MIM:608295"
     misc_feature    29..31
                     /gene="FAM107A"
                     /gene_synonym="DRR1; TU3A"
                     /note="upstream in-frame stop codon"
     CDS             89..523
                     /gene="FAM107A"
                     /gene_synonym="DRR1; TU3A"
                     /note="isoform a is encoded by transcript variant 2;
                     down-regulated in renal cell carcinoma 1; protein FAM107A;
                     actin-associated protein FAM107A"
                     /codon_start=1
                     /product="actin-associated protein FAM107A isoform a"
                     /protein_id="NP_001070246.1"
                     /db_xref="CCDS:CCDS2892.1"
                     /db_xref="GeneID:11170"
                     /db_xref="HGNC:HGNC:30827"
                     /db_xref="MIM:608295"
                     /translation="MYSEIQRERADIGGLMARPEYREWNPELIKPKKLLNPVKASRSHQ
                     ELHRELLMNHRRGLGVDSKPELQRVLEHRRRNQLIKKKKEELEAKRLQCPFEQELLRRQ
                     QRLNQLEKPPEKEEDHAPEFIKVRENLRRIATLTSEEREL"
     misc_feature    308..340
                     /gene="FAM107A"
                     /gene_synonym="DRR1; TU3A"
                     /note="propagated from UniProtKB/Swiss-Prot (O95990.1);
                     Region: Nuclear localization signal.
                     /evidence=ECO:0000269|PubMed:28604741"
     misc_feature    401..460
                     /gene="FAM107A"
                     /gene_synonym="DRR1; TU3A"
                     /note="propagated from UniProtKB/Swiss-Prot (O95990.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      2362..2367
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM107A"
                     /gene_synonym="DRR1; TU3A"
                     /note="hexamer: AATAAA"
     polyA_site      2385
                     /gene="FAM107A"
                     /gene_synonym="DRR1; TU3A"
     regulatory      2973..2978
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM107A"
                     /gene_synonym="DRR1; TU3A"
                     /note="hexamer: AATAAA"
     polyA_site      2994
                     /gene="FAM107A"
                     /gene_synonym="DRR1; TU3A"
                     /note="major polyA site"
ORIGIN
        1 cttgctagtc tgggacttcc cggtggagtg aggaacccag caacacgctc ctgacttccc
       61 ttcccaagga ctcgacctga gaaccgccat gtactcggag atccagaggg agcgggcaga
      121 cattgggggc ctgatggccc ggccagaata cagagagtgg aatccggagc tcatcaagcc
      181 caagaagctg ctgaaccccg tgaaggcctc tcggagtcac caggagctcc accgggagct
      241 gctcatgaac cacagaaggg gccttggtgt ggacagcaag ccagagctgc agcgtgtcct
      301 agagcaccgc cggcggaacc agctcatcaa gaagaagaag gaggagctgg aagccaagcg
      361 gctgcagtgc ccctttgagc aggagctgct gagacggcag cagaggctga accagctgga
      421 aaaaccacca gagaaggaag aggatcacgc ccccgagttt attaaagtca gggaaaacct
      481 gcggagaatt gccacactga ccagcgaaga gagagagctg tagggccagc tgccgggctc
      541 aggccactgc ccaccctggc ctggacagcc tccttcagcc cttctgtacc tggcagccct
      601 gggccccagg ccctgggacg tctgtgatgt tcccacctgc ttctgtagaa atgtgtcacc
      661 ccagagggcc tggctctccc tgggaggctg gggcccctaa gctcctaggt tttccttcca
      721 agcacccagc cctcctgctc caagagggat aacctgcacc cctccctgca aggggttcag
      781 agcccagcac aggagctttc tctggcagaa ttgaggagga agaggtggcc ctctgacttg
      841 acaagccttc tgttctgccc aggccttccc accaggaatc tccgaggctc cccagggccc
      901 cgcttctccg tacaccccag ctcctaggtc tcagagaact cccccacctg tggttttacc
      961 tgcagccagc agagcttagc ttcaaggaca cctgccttca aagccactga ggggaggaag
     1021 ggcagggcag actgcagatg gccttgttgc tggcatcccg gccaggtggg cggggactaa
     1081 caaagacagc tgtttagggt cttctcccct cacccatgct ttcatcatcc cctccgcaca
     1141 gcctccccgt ccaggccttc taaccacacc tacccagggc tgccgcattc ctgcactcag
     1201 aagtctgcag cggtgcctca caaacttgat tgtgcataaa aatcactggg gatcttgtta
     1261 atacagcttc taactcaata gatctgggag atcctgcatt tctaacaagc tcccaggtaa
     1321 ggcggaggct gctggtgtga ggaccatgct gtgagcagca gggcgagagt gcccagggct
     1381 gatatatatt ggaaatatca cccctgaagc catcgctggc ccccacctcc tgtggactga
     1441 tgccccaggg attcccaccc cacttctgca accccaggta tccttcatta tccaccccat
     1501 cccagactcc caccccaggg attgcccgtg aagactttgg cctagcaaat tgtgttggtt
     1561 atgtgagtgt tgttttaatc agagatgtac atgattgcca atctgcattt cttaccagtg
     1621 tgaccacact gttacgatgc aattctagcc aaaaaaaaaa aaaaaaaaaa aaaaattttt
     1681 tttttttact ttttcctagt cttatggaaa gcaaatatac aatgattttc agtaggcttc
     1741 tggaatagaa acagtggttt gaagacccca ctgccacctt tatggactgg cccctttgag
     1801 tctgaatccc cggcctctgt cacctgagac ccaaccccta gctgggccaa ctccagtgaa
     1861 ttcacccatt tttcttcttc agaaggcctt tcctgtgtga gacccacata ttttaacctt
     1921 ttgctcctat cccattttta aagaattaga gaataaacca ggcctgtttc ttttcccctg
     1981 aaatccctgc ctctggcttc ctaaacccat catctaaggt gacagagcag tgctggaata
     2041 gcatctcctt tcactttccc aaaactgcca cagatagctg ccactggcat gctctttgat
     2101 tcctggaagc aaacgtggga ctgtcggagg aaagggattg ttctggtctt actcataact
     2161 gggtggtttg agggtgactg aagtcgtgct tttcctgtgt gtgctgccag cacagggctg
     2221 taaatgcaga tattgcgcct gtgtgcgtgt gtataagtca agctccaaga ggctcctgaa
     2281 tgtgactggc gtgctgagaa tgtgtttacg ctgtttaatg tctgccaggt gagggttaca
     2341 ctgaagatgc acaatcccta aaataaagat caccacttcc ccaaagaagc agccctcggg
     2401 tccatgtgtt gttcagacat gtgaagagaa gcaagacaga gggtctcaga tggacgaggg
     2461 ctctccaagg gaatgcctgg ggattcaccc agtggtcccc agaggtgctc catggaggca
     2521 acaagtcatt ccatgaagcc ccagaggtag aagggacctc aagcaccacg ccctccaggg
     2581 cagccgtgca gacgaccttg gttcactttt caggggtcgt cccaactctg tatctccagc
     2641 cactccaact gtggaggctg taaatccaga ttttcactgt tccagtctcc tttgcagctt
     2701 aggatggcta tgtgatcagg tgtggccaat gaaattgaag aggaagtcta cctgggcttc
     2761 tgggaaagct tttccaataa aagacacagg catggctaac acctccctgg gcctcttctt
     2821 cctaccttga ttgagggtgt gatgcctgga gccacagcag ccactttgct accatgacaa
     2881 aaaggccaag agaatcacag agtcattgac cctatcatta tttcaccaag ccaataccag
     2941 ccgccatcct tctccagaat tcttgtaaat aaaataaatc cctctttgtt taaa
//
LOCUS       NM_001076781            4042 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 391 (ZNF391), transcript variant 2,
            mRNA.
ACCESSION   NM_001076781
VERSION     NM_001076781.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4042)
  AUTHORS   Ren H, Meng Y, Zhang Y, Wang Q, Deng W, Ma X, Zhao L, Li X, Wang Y,
            Sham P and Li T.
  TITLE     Spatial Expression Pattern of ZNF391 Gene in the Brains of Patients
            With Schizophrenia, Bipolar Disorders or Major Depressive Disorder
            Identifies New Cross-Disorder Biotypes: A Trans-Diagnostic, Top-Down
            Approach
  JOURNAL   Schizophr Bull 47 (5), 1351-1363 (2021)
   PUBMED   33822213
  REMARK    GeneRIF: Spatial Expression Pattern of ZNF391 Gene in the Brains of
            Patients With Schizophrenia, Bipolar Disorders or Major Depressive
            Disorder Identifies New Cross-Disorder Biotypes: A Trans-Diagnostic,
            Top-Down Approach.
REFERENCE   2  (bases 1 to 4042)
  AUTHORS   Brayer KJ and Segal DJ.
  TITLE     Keep your fingers off my DNA: protein-protein interactions mediated
            by C2H2 zinc finger domains
  JOURNAL   Cell Biochem Biophys 50 (3), 111-131 (2008)
   PUBMED   18253864
  REMARK    Review article
REFERENCE   3  (bases 1 to 4042)
  AUTHORS   Klotz LO, Kroncke KD and Sies H.
  TITLE     Singlet oxygen-induced signaling effects in mammalian cells
  JOURNAL   Photochem Photobiol Sci 2 (2), 88-94 (2003)
   PUBMED   12664966
  REMARK    Review article
REFERENCE   4  (bases 1 to 4042)
  AUTHORS   Fuchs O, Babusiak M, Vyoral D and Petrak J.
  TITLE     Role of zinc in eukaryotic cells, zinc transporters and
            zinc-containing proteins. Review article
  JOURNAL   Sb Lek 104 (2), 157-170 (2003)
   PUBMED   14577126
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.3613724.1,
            SRR14038194.1013309.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000244576.9/ ENSP00000244576.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK294965.1, CN294872.1, BM906507.1, BC035154.2, BX400006.2,
            DB297905.1 and AL031118.22.
            On Aug 13, 2020 this sequence version replaced NM_001076781.2.
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, 3 and 4 all encode the same protein.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4042
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.1"
     gene            1..4042
                     /gene="ZNF391"
                     /gene_synonym="dJ153G14.3"
                     /note="zinc finger protein 391"
                     /db_xref="GeneID:346157"
                     /db_xref="HGNC:HGNC:18779"
     misc_feature    394..396
                     /gene="ZNF391"
                     /gene_synonym="dJ153G14.3"
                     /note="upstream in-frame stop codon"
     CDS             505..1581
                     /gene="ZNF391"
                     /gene_synonym="dJ153G14.3"
                     /codon_start=1
                     /product="zinc finger protein 391"
                     /protein_id="NP_001070249.1"
                     /db_xref="CCDS:CCDS43429.1"
                     /db_xref="GeneID:346157"
                     /db_xref="HGNC:HGNC:18779"
                     /translation="MESLRGNTAQGPTNEEDYKNEGQLSRQTKCPAQKKSSFENTVVRK
                     VSVTLKEIFTGEEGPESSEFSLSPNLDAQQKIPKGHGSPISRKNSKDNSDLIKHQRLFS
                     QRKPCKCNECEKAFSYQSDLLVHSRIHGGEKPFECNKCGKSFSRSTHLIEHQRTHTGEK
                     PYECNECGKAFSRSTHLSLHQRIHTGEKPYECSECGKAFSRSTNLSQHQRTHTQERPYK
                     CNECGKAFGDRSTIIQHQRIHTGENPYECSKCGKAFSWISSLTEHQRTHTGENPYECSE
                     CGKVFSRSSSLTEHQRIHSGEKPHECRVCGKGFSRSSSLIIHQRTHTGEKPYKCNDCGK
                     AFCQSSTLIRHQHLHTKE"
     misc_feature    505..618
                     /gene="ZNF391"
                     /gene_synonym="dJ153G14.3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJN7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    670..786
                     /gene="ZNF391"
                     /gene_synonym="dJ153G14.3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UJN7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      4009..4014
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF391"
                     /gene_synonym="dJ153G14.3"
                     /note="hexamer: AATAAA"
     polyA_site      4042
                     /gene="ZNF391"
                     /gene_synonym="dJ153G14.3"
                     /note="major polyA site"
ORIGIN
        1 agtgtggtct ctgttttgca actggtcgtc cgcgtcagga gacttaggtc caggcgactg
       61 cccagacaat gactggtccc gcataccgag cagagcatga tcagcagcag tctgagtgga
      121 agagtgcctg tgatcttagg gaacctgatg ggcgttggag cagcggttcg acgcatgggt
      181 ttctctttaa tccttccgac ttccccaagc ccagcgcact caggttccgc tccaagtgcg
      241 ggacccgccc ggggtgtgtc gggggtactc ggccggaggc ggccggtgag tgaggcttac
      301 agggccccgg gaccaaggaa ccccagcatg ttaattgaac ttgatcaccc agttgaagga
      361 agaataatag tagatgttgg atcttcagga agctgaagag ggcagtgccc agaaatacct
      421 gtcttgatag ggggatttga gctgaaccaa agcatcaaca ccaatcagac tgtttccgaa
      481 gaactagagt tttctgggtc agcaatggaa agcctcagag ggaatactgc tcagggtcct
      541 acaaatgaag aagactataa aaacgaaggc caattatcaa ggcaaacaaa atgtcctgca
      601 cagaagaaat cctcttttga gaacacagtg gtcagaaaag tgtcagtgac actcaaagaa
      661 attttcacag gggaggaagg ccctgaatcc agtgaattta gtctaagccc aaaccttgac
      721 gcacaacaga aaattccaaa gggacatgga tccccaatat ctaggaaaaa ctccaaagat
      781 aattcagact taattaaaca ccaaagactt ttctcacaaa gaaaaccttg taaatgcaat
      841 gaatgtgaaa aagcctttag ttaccaatca gaccttcttg tacacagtag aattcatggt
      901 ggagaaaagc cttttgaatg caacaaatgt gggaaatctt tcagccgaag tacacacctt
      961 attgaacatc aaagaactca cactggagag aaaccttatg aatgcaatga atgtggaaaa
     1021 gcttttagcc ggagcacaca tcttagtcta catcagagaa tccatactgg agaaaaacca
     1081 tatgaatgta gtgaatgtgg aaaagccttt agccgaagca ctaaccttag tcagcatcag
     1141 cgaactcata ctcaagaaag gccttacaaa tgtaatgaat gtgggaaagc cttcggtgac
     1201 cgttcaacca taattcagca tcaacgaata cacactggag agaatcccta tgaatgcagt
     1261 aaatgtggaa aagctttcag ttggatctca tcgcttactg aacatcagag aacacacact
     1321 ggggagaacc cctatgagtg cagtgaatgt gggaaagtgt tcagtcgaag ctcgtctctt
     1381 acagaacatc agagaatcca cagtggagaa aagcctcacg agtgtagagt gtgtggaaag
     1441 ggcttcagtc gaagctcatc ccttattatt catcagagaa ctcataccgg ggagaagccg
     1501 tacaaatgta atgactgtgg aaaagccttc tgtcagagtt caactctgat cagacatcag
     1561 caccttcata ctaaagagta atatctgagc ttttattaat gttagcataa gaacacatat
     1621 acctaacctc ccaccactga aatatatata tttcaagtat atatatactt gttctaattt
     1681 tcttttatta gatacctata cccgttttaa gctttcattc gttctttcca tccatctatc
     1741 cttctttcgt ctcccctccc ttcttccctc cttccctcct tcctactttt tctccctctc
     1801 cctgttcttt ctttctcttt tctcaaataa gttcacaata aaacaaaggg atgactcaaa
     1861 aaacataaca tatgaaatct aatattctga agggctccaa ctttagagta taaagctatc
     1921 tgacaccttg tagtttctct gctaatctat tccttcaagc gtgggtcccc gaaccaccag
     1981 gttctcctct gttttctaac cacatcagcc cctgcacatg aagagaaaat cctgtgtgtg
     2041 tgtcttcata cttgctggct ctagtaccag aagagaggga tctggcttca gagcaggact
     2101 gaaaacttct caccagtctg gggataatag tgttgaggca aattcattct cttgacttgc
     2161 aaaaacagat ttttctcatc ttcctccttc tctcaccttt tttgcagtag catttttcct
     2221 caaagtacaa ctcatttttt tactaacgcc taactaatcc tagtgttatt ttatcatatt
     2281 tttaccaaga atgttctaaa aatcttggag acgttcctcc atgatcttgg gaaaaaaagt
     2341 tgccaaatgc tgtgctgttt tttttgtttg tttttaattt tctttcattt acagatttca
     2401 tgaaacttat attctgtggc tttgaccctc accaatcttg gaagattgat ctctcaagga
     2461 caaacccagt gcctatttct cagtcctttt tctacttgac atttgcagaa ttggcacttt
     2521 ttgccactgt tatgccttaa atcttgagct tctttcagga tccatgattc tgtgctgatc
     2581 tacacttttc ctacctctca gcatttcttt gattgtcaat gatcagctct gtgatttggg
     2641 gcaagggtta ggccagaatt atctcatttt atcaagttat aaaacttgag gtagtgcaac
     2701 tagattatac acttcttgaa gacagaaatc ttggtttgtt tgttgtttta tttttgagag
     2761 aaggtcttgc tgtgttgccc aggctggagt gcaatggcac aatcatagct cactgtagcc
     2821 ttgaacttct gggctcctgc cacagcctcc tgagtagcta gggctgcaag tgtgtaccac
     2881 cacacccaca attttaaagt ttttttgtgg agacaggatc tcactatatt ggcaaggctg
     2941 gcctccatct cctgaactca aacaattctc ccacctcggc ttccgaaaac actgacatta
     3001 caggtgtgag ccaccacacc tgccagaaat cttgtttttg attgatataa aacatcacaa
     3061 agtactgagt agacactaaa tgctctgtaa ttattgctca ctgattcctc tttatctgta
     3121 atcaatcaac ttgactttat ttgatatgga ttaataattg atttctttct ctctttctac
     3181 tgctgcttcc aagttcttgg taccttgtgc ctagattact aaattgatca ctgttgactc
     3241 actaccatta tctagctcct tactaaacta ctactttgtt aaaaaaaaat agtcgtttcc
     3301 cagtgacctc tgccccaaat gtaaacttct ttaacctaaa ggtctttcat agtttgatct
     3361 acttacttac ttcctttctc ttctcaaaga taatacatgc gggcaggcct gttttgtccc
     3421 tactataccc tcttctcaca cttttcttct tttcaaactg ttccttggca cttctacatg
     3481 tcctactttc ttcgttgtat tccagaaacc ctatccaccc ttttttaaag gccatgctca
     3541 tatcctggct ctgtgacact ttcagtcccc tgccttctta gaaatccttt gtagtgatgg
     3601 tttgcattat tctcctgtat tagacacctt ctttactgtt ttctggttct ttcacaagta
     3661 cttttttaca taagctgttt tgaagttgta aatcatccta aatcttttat aagcctcata
     3721 taatacatag tacaatgcca gcctggactc tagttttaat ctaaatacat agggtttaat
     3781 ttagcagcat aatcttttta gtcttttgaa tgatgaggta acctcatagg tattttggcc
     3841 cattttgttt ttccttgaat tacatatata actgactatt tagactgact cctttagatc
     3901 tcctgggatg ctgacctctt ggctttccaa ttcatgagac tattgtaaag aataagtgag
     3961 ttcattcatg taaagtagta aaacagtgcc tgacaaaagt aaatgctcaa taaattctaa
     4021 ttgttatgat tctagtgatt ca
//
LOCUS       NM_001076786            9706 bp    mRNA    linear   PRI 11-JAN-2023
DEFINITION  Homo sapiens glutamine and serine rich 1 (QSER1), transcript variant
            1, mRNA.
ACCESSION   NM_001076786
VERSION     NM_001076786.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9706)
  AUTHORS   Dixon G, Pan H, Yang D, Rosen BP, Jashari T, Verma N, Pulecio J,
            Caspi I, Lee K, Stransky S, Glezer A, Liu C, Rivas M, Kumar R, Lan
            Y, Torregroza I, He C, Sidoli S, Evans T, Elemento O and Huangfu D.
  TITLE     QSER1 protects DNA methylation valleys from de novo methylation
  JOURNAL   Science 372 (6538) (2021)
   PUBMED   33833093
  REMARK    GeneRIF: QSER1 protects DNA methylation valleys from de novo
            methylation.
REFERENCE   2  (bases 1 to 9706)
  AUTHORS   Latourelle JC, Pankratz N, Dumitriu A, Wilk JB, Goldwurm S, Pezzoli
            G, Mariani CB, DeStefano AL, Halter C, Gusella JF, Nichols WC, Myers
            RH and Foroud T.
  CONSRTM   PROGENI Investigators, Coordinators and Molecular Genetic
            Laboratories; GenePD Investigators, Coordinators and Molecular
            Genetic Laboratories
  TITLE     Genomewide association study for onset age in Parkinson disease
  JOURNAL   BMC Med Genet 10, 98 (2009)
   PUBMED   19772629
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000650167.2/ ENSP00000496900.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL035400.13, BC112935.1, AC107939.5, AK025577.1, AK126023.1 and
            AL834141.1.
            On Dec 29, 2018 this sequence version replaced NM_001076786.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..9706
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..9706
                     /gene="QSER1"
                     /note="glutamine and serine rich 1"
                     /db_xref="GeneID:79832"
                     /db_xref="HGNC:HGNC:26154"
                     /db_xref="MIM:619440"
     misc_feature    187..189
                     /gene="QSER1"
                     /note="upstream in-frame stop codon"
     CDS             316..5910
                     /gene="QSER1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glutamine and serine-rich protein 1"
                     /codon_start=1
                     /product="glutamine and serine-rich protein 1 isoform 1"
                     /protein_id="NP_001070254.2"
                     /db_xref="CCDS:CCDS41631.2"
                     /db_xref="GeneID:79832"
                     /db_xref="HGNC:HGNC:26154"
                     /db_xref="MIM:619440"
                     /translation="MDRNYATSGFTEPPPPPPPAPPAAPVPASAAAQPPAPAWAYEPRA
                     AAAAASSSCSSGSCSSGSSPSLKASLSYEEGHPSHSETDLLQRQSFAASHQLPGYAPTP
                     QPTGLSGIFDTSVNSASSNTKESSVMNFLSTAESRTAQAAASGTTLLPQFRAPSWQTGM
                     HSSAATELFATGPLPSTGTLPPSLSAYQHPTTFSNRNFATTSPLVLQDSTFNTTSNGIL
                     SHHDPLLQIKTSQGTVPTALAFERLGSSVLSNSIPPQSSTYRSAQESAPHLLQPQFSLL
                     PSALGGSQQTPQAYSSTLFTSSTASIERALLRECSVIKHHQRPSGTQSIQAQLTGSQHS
                     LHSYLSNSSVVNFQETTRQSSLSCSPIGDSTQVSNGGLQQKTSQVSVELAQSYSSAIPS
                     SGYPPSTTKIKSCSTEQPLTSTKTPKPQSIIPPVQTLSYSKPLHNQSSVISGQAQIYST
                     AQLPSLLSVSQSQNYGLVQPHNVPSIVHSQVYRSSKVEKLPPLYKTLTFSGSSQTVTPE
                     NQTLNYSSNQQEVLSSVTNENYPAQTRDLSSVSQSQSYSSGHSQGLSPVSQTQVSYSSQ
                     SQVLSVVSLSESYASGESLTLTAPSLSYSSASRAQNLPDSSPTQNYISMHSSQNVQTQE
                     SSSPQSQKFLPAVQSSSFASSTHCQTLQNNITSPDPKSYAERKLDSDVYPSSKQEDGFP
                     MQELQVLQPQASLESSTQRLSDGEINAQESTYKVSKADDRYSQSVIRSNSRLEDQVIGV
                     ALQASKKEESVVGSVTQLNQQIGQVNNAATLDLKNSTNLIQTPQIRLNTKDLKQQHPLI
                     LKVHESKVQEQHDQIINASSQIQIPNHALGHGHQASLPNTQVLLDSACDLQILQQSILQ
                     AGLGQVKASLQAQRVQSPQQIVHPFLQMEGHVIQSNGDHSQQQLHPQNSEVMKMDLSES
                     SKPLQQHLTTKGHFSETNQHDSKNQFVSLGSMCFPEAVLLSDERNILSNVDDILAATAA
                     ACGVTPTDFSKSTSNETMQAVEDGDSKSHFQQSLDVRHVTSDFNSMTATVGKPQNINDT
                     SLNGNQVTVNLSPVPALQSKMTLDQQHIETPGQNIPTKVTSAVVGPSHEVQEQSSGPFK
                     KQSATNLESEEDSEAPVDSTLNNNRNQEFVSSSRSISGENATSESEFTLGGDDSGVSMN
                     PARSALALLAMAQSGDAVSVKIEEENQDLMHFNLQKKRAKGKGQVKEEDNSNQKQLKRP
                     AQGKRQNPRGTDIYLPYTPPSSESCHDGYQHQEKMRQKIKEVEEKQPEVKTGFIASFLD
                     FLKSGPKQQFSTLAVRMPNRTRRPGTQMVRTFCPPPLPKPSSTTPTPLVSETGGNSPSD
                     KVDNELKNLEHLSSFSSDEDDPGYSQDAYKSVSTPLTTLDATSDKKKKTEALQVATTSP
                     TANTTGTATTSSTTVGAVKQEPLHSTSYAVNILENISSSESSKPIELDGLPSDQFAKGQ
                     DTVAIEGFTDEEDTESGGEGQYRERDEFVVKIEDIETFKEALKTGKEPPAIWKVQKALL
                     QKFVPEIRDGQREFAATNSYLGYFGDAKSKYKRIYVKFIENANKKEYVRVCSKKPRNKP
                     SQTIRTVQAKPSSSSKTSDPLASKTTTTKAPSVKPKVKQPKVKAEPPPKKRKKWKEEFS
                     SSQSDSSPEIHTSSSDDEEFEPPAPFVTRFLNTRAMKETFKSYMELLVSIALDPDTMQA
                     LEKSNDELLLPHMKKIDGMLNDNRKRLLLNLHLDQSFKNALESFPELTIITRDSKAKSG
                     GTAISKIKMNGKAYNKKTLRTSKTTTKSAQEFAVDPEKIQLYSLYHSLHHYKYHVYLIC
                     KDEISSVQKKNEDLGQEEIVQLCMKNVKWVEDLFEKFGELLNHVQQKCS"
     regulatory      9678..9683
                     /regulatory_class="polyA_signal_sequence"
                     /gene="QSER1"
                     /note="hexamer: AATGAA"
     polyA_site      9706
                     /gene="QSER1"
                     /note="major polyA site"
ORIGIN
        1 atcctgggaa atccaccaac atggggcgca gcggccgccg ccgccgccgc cgtcgccgcg
       61 agtcccggcc gcgggtgcct ccgcttccct gacgcccagc tggggcctcg ccgcccgccg
      121 cggcccgggt ctttgcggcc cagactcgcc agcgcgccct tctcccgcct gctcgccggg
      181 gccatgtgag ggggcagctc cctccaccgc cgccgccccc tcttcctccc ccgccccctc
      241 tccctgcccg cccccgtcac acggagccct ggaggatccc ccgctgctgc ccgccctccc
      301 tacgccaccc ccacgatgga caggaactac gcgacctcgg gcttcaccga gccgccgccg
      361 ccgccgccgc ccgcgccccc cgccgccccc gtccccgcca gcgccgctgc gcagcccccc
      421 gccccagcct gggcgtacga accccgagcc gccgccgccg ccgccagcag cagctgcagc
      481 agtggcagct gcagtagcgg cagcagcccc agcctcaagg ccagtttaag ctatgaagaa
      541 ggacatccct cacactctga aacagatctc cttcagagac agagttttgc agcctctcat
      601 cagcttcctg gatatgctcc cacacctcag cctactggtc tttctggaat atttgatact
      661 agtgtgaaca gtgccagcag taacactaaa gagtcttcag tgatgaattt tctgtctact
      721 gctgaatccc gaactgctca ggctgctgct tcaggaacta ctctcttacc acaattcagg
      781 gctccatcct ggcagacagg catgcattcc tcagcagcaa ctgagctgtt tgctactgga
      841 cctttgccaa gcactggaac acttccacca tctctctctg cttatcagca tcccaccacc
      901 ttcagcaata gaaactttgc taccacttca cctttggtgc ttcaggattc aacttttaac
      961 actacatcaa atggaatttt aagtcatcat gaccctttgc tacaaatcaa gacttcccag
     1021 ggaactgttc caactgcttt ggcatttgag cgcctgggca gttctgtatt aagtaacagc
     1081 ataccacctc agtcttcaac ataccgctca gctcaagagt ctgcacccca tcttttacaa
     1141 cctcaattta gtttgttgcc ttcagcactt gggggatccc agcagactcc tcaagcctac
     1201 agttcaactc tctttactag ttctactgct tccattgaaa gagctcttct tcgagaatgt
     1261 agtgttatta aacaccatca gcggccttca ggtacccagt caattcaggc acaactgact
     1321 ggttcacagc actccttaca tagttatcta tcaaattcaa gtgtagttaa ttttcaggaa
     1381 acaaccaggc agtcatcttt atcctgtagc ccaattggag attccactca ggtgagcaac
     1441 ggaggattac aacagaagac ctcccaggtc tcagtggaac ttgctcagtc ttactcatct
     1501 gcgattccat catcagggta tcctccttct actacaaaaa taaaaagctg ttctacagaa
     1561 caaccactga catcaaccaa gacccctaaa cctcaaagta taattcctcc tgtgcaaaca
     1621 ctaagctatt ccaaaccttt acataatcag agttctgtaa tatcgggcca agcacaaatt
     1681 tattctacag cgcagctacc aagcctttta tcagttagtc agtcccaaaa ttacggttta
     1741 gtacagccac ataatgtgcc atctattgtt cattcacagg tttataggtc cagcaaggtt
     1801 gagaaattgc cacccttgta taaaacattg actttttctg ggtcatctca gactgtaact
     1861 cctgaaaatc agacgcttaa ttattcatct aatcagcaag aggtattgtc ttcagttaca
     1921 aatgagaatt accctgctca aacaagagat ctgtcttcag taagtcagtc tcaaagttac
     1981 tcatctggtc actctcaggg tttatcacca gttagccaga cacaggttag ctattcatct
     2041 caatcacaag ttttgtcagt tgttagtctt tcagaaagct atgcttcagg ggagtcccta
     2101 acattaacag ccccttctct ttcttattct tctgcctctc gggctcagaa tttgccagac
     2161 tctagcccga cccagaatta tatttctatg cattcttccc aaaatgttca gactcaagag
     2221 tcatcatctc cccagtccca gaagtttttg cctgctgtcc agtcatcatc ttttgcatcc
     2281 tctactcatt gtcagacatt acaaaataac ataacttccc ctgacccaaa gtcttatgct
     2341 gaaagaaagc ttgactcaga tgtgtatcca tcttcaaagc aagaagatgg ttttccaatg
     2401 caagagttac aggtgttgca gccacaagca tctcttgagt catcaaccca aaggctatct
     2461 gatggagaaa ttaatgctca agaatcaact tataaggtgt caaaggcaga tgacagatat
     2521 tctcagagtg taatcagaag taattcccgt cttgaagatc aagttattgg ggttgctctg
     2581 caagcatcaa aaaaagaaga aagtgttgtt ggttcagtga cacaacttaa ccaacaaatt
     2641 ggccaagtca ataatgcagc tacccttgat cttaagaact caactaattt aatacagact
     2701 ccacaaataa ggttgaatac taaagactta aagcagcaac atcctctcat acttaaggtg
     2761 catgagtcca aggtccagga acagcacgat caaataatta atgcttcatc tcagattcaa
     2821 attccaaatc atgctttagg gcatggccat caggcatctc ttcctaatac acaggtcctt
     2881 ttagattctg cctgtgattt acaaattctt cagcagtcaa tactgcaggc aggtttaggt
     2941 caagtaaagg catctttaca agcacagcgt gttcaaagcc ctcaacaaat agtacatccc
     3001 ttccttcaga tggaaggtca tgttattcaa agcaatggtg atcattctca gcagcaactc
     3061 catcctcaaa attctgaagt tatgaaaatg gacctctctg agtcttcaaa accattacaa
     3121 caacatctaa caacaaaggg ccattttagt gaaacaaatc aacatgattc aaagaatcag
     3181 tttgtttctc ttggatcgat gtgtttccca gaggcagtgc ttcttagtga tgaaagaaat
     3241 attttatcaa atgtagatga tatcttagca gctacagcag cagcttgtgg agttacacct
     3301 actgattttt ccaagtcaac ttcaaatgaa accatgcagg ctgttgaaga tggtgattct
     3361 aaatctcatt ttcagcagtc attagatgtc aggcatgtga cttcagattt taactctatg
     3421 acagctacag taggaaagcc acagaatata aatgatactt ccttaaatgg aaatcaggtt
     3481 actgtgaacc tttcaccagt acctgccctt cagtcaaaaa tgactcttga tcaacagcac
     3541 attgaaacac ctggtcaaaa tataccaact aaagtaactt cagcagtggt tggaccaagt
     3601 catgaagtcc aggagcaaag ttctggccca ttcaagaaac agtctgctac caatcttgaa
     3661 tctgaagaag acagtgaagc tcctgttgat agtacattaa ataataacag aaaccaagag
     3721 tttgtttcta gtagtagaag tataagtgga gagaatgcta catcagagag tgaatttacc
     3781 ttagggggtg acgacagtgg tgtgtcaatg aacccagcta ggagtgcact tgcactgttg
     3841 gccatggccc aatctgggga tgcagtcagt gtcaagattg aagaagaaaa ccaagattta
     3901 atgcatttta accttcaaaa gaaaagagct aaaggaaaag ggcaagttaa agaggaagac
     3961 aacagtaatc agaaacagct gaaaagacct gcccaaggca aacgccagaa tccaagggga
     4021 acagatattt acttaccgta tactcctcct tcctcagaaa gctgccatga tggttatcag
     4081 catcaagaaa aaatgagaca gaagatcaaa gaggtggagg aaaaacaacc agaagtcaaa
     4141 acaggattta ttgcttcttt cttagatttt ctgaaatccg ggcccaagca gcagttttcc
     4201 actcttgctg tacgaatgcc taacaggact agacggccag ggacccagat ggttcgtaca
     4261 ttttgtcccc caccacttcc caagccttca tctacaacac ccacaccttt agtgtctgaa
     4321 actggcggta acagtccatc agataaagtt gataatgaac ttaaaaactt ggaacattta
     4381 tcttcatttt cttctgatga agatgatcct ggatatagtc aagatgctta taaaagcgtc
     4441 tctactccct taactacttt ggatgctact tctgataaaa agaagaaaac agaagcccta
     4501 caggtggcaa ctactagccc aactgccaat actactggta ctgctactac ttcctcaacc
     4561 actgtgggtg cagttaagca agaacctctc cactctactt catatgcagt aaatattctg
     4621 gaaaatataa gctcttcaga atcctcaaag cccattgaac ttgatggtct tccttcagac
     4681 cagtttgcaa aaggacagga cactgttgcc atagaaggtt ttacagatga ggaggacaca
     4741 gaaagcggag gagaaggcca atacagagag cgtgatgaat ttgtggtaaa gatagaagac
     4801 atagagactt ttaaggaggc tttaaaaaca ggaaaagaac ctccagctat ttggaaagta
     4861 caaaaagctt tattacagaa atttgttcct gaaattcgag atggtcaaag agaatttgct
     4921 gctacaaata gttatcttgg atattttgga gatgcaaaga gtaaatacaa aagaatatat
     4981 gtgaagttca ttgaaaatgc aaacaagaag gaatatgtca gagtgtgttc taaaaagcca
     5041 agaaataaac cttcacaaac tatcagaact gttcaagcta agccaagtag tagcagtaaa
     5101 acttctgatc ctctagcatc aaaaactaca actacaaaag ccccttccgt gaaacccaaa
     5161 gttaaacagc caaaagtaaa ggctgagcca ccaccaaaga aacggaaaaa atggaaagaa
     5221 gaattttcat catcccaatc tgactcatct cctgagatcc atactagtag tagtgacgat
     5281 gaggaatttg aacctcccgc tccctttgtc actcgctttt tgaacacaag agcaatgaag
     5341 gaaaccttta agagctacat ggaattgctt gttagcattg ccttggaccc tgacacaatg
     5401 caagccttag agaagagcaa tgatgagcta cttttacctc atatgaaaaa aatagatggc
     5461 atgctaaatg ataaccgaaa gagacttctt ttgaatcttc atttggatca atcattcaag
     5521 aatgctttgg aaagttttcc tgaactaaca ataattactc gagattctaa agcaaagagt
     5581 ggaggaactg ctatttctaa aatcaaaatg aatggcaaag cctataataa gaaaactcta
     5641 aggacttcta aaacaaccac caaatctgca caagagtttg ctgtcgatcc agagaaaata
     5701 cagttgtatt ctttgtatca ttcactccat cattataagt accatgttta tctgatatgt
     5761 aaggatgaga tttcttcggt gcagaaaaaa aatgaagatt taggacagga ggaaattgtt
     5821 caactttgta tgaaaaatgt aaaatgggtg gaggacctct ttgaaaaatt tggagaactt
     5881 ctaaatcatg tacagcagaa atgttcctga cttttccaca aaaatcccat ctttttatag
     5941 cactaatgaa atggcagata tggggtggtc aaagataatc agatgtcaag tagtggcctt
     6001 ctgcaggccg gccgcttcca tcatggaact gtcattacca cctctgctga aggacagtgg
     6061 tgcggccttt aggaacgaag ttagtcctct ggaaatggac ctaaatccca ccacattttt
     6121 accctaatga atgatttttc tattttgtaa accattgggt aacttgagtc atattttcag
     6181 aaacattttt tgacaaatga tgaagcatgc actaagtata attttttttt attgctagag
     6241 aagtaacact taaagtaacg attttttttt tctgactccg gctaaacacc agaatgacag
     6301 agaagtggca gaaaccatat gtttgtactc acatctggcc acaaaaccag aaatactgta
     6361 cattatgtaa agaggtctgg tgtggtgtga catcctgtat aagaatatca tcaatttaaa
     6421 atataaaatt tggaaactat tctgctttac agactccttt tactcttaac atgttcagga
     6481 aactggatgt ggaattggtg caattctctg actgcttttt gtgtcaaatt atattgtgat
     6541 aaaaaaacaa tgacatacta ttttccctat cgcaaagaaa agtattttcg tttatactgt
     6601 tttttccttt ggaaaatttt caattgtaca ttttatttca ctgatagttg tatttttcac
     6661 aaggaaaatg ttgtggttat aattacgttt gatatatctc tacaacacct tttgttattt
     6721 tcagtaaatc ttagttatat gttgaatttc taatgtgaat tctatcttga ggtaaccatt
     6781 tttttcatac agatttgctt cagtgttatc cagaatatgc attcagtact agaattagtt
     6841 tagctttata aatagggctg tgttagacac tgcagtaatt ttctaattca taaaataaac
     6901 ttcttactaa actagcactt gattaacttg ttgaggtaaa aatctaacta catttacatt
     6961 ttgaagaata aaactgataa ttagactatt tgcagtgtta aacacagctt ccttaactct
     7021 tagaactgga agttgtagag ctctcctttt ggtgcctttc cagcctttat acacactatt
     7081 gtagctttct taggtttgat aggtagcgtt tcaagtagtt tagctgagac agtgaatgta
     7141 ttaggttcaa catgaccttg tgttttattt gtgtttgcca acaggatgcc ttatttgttt
     7201 gagaaaaaga tgtactagtg tcattctaaa ctatctcctt ttttaggatt ctaaagaagt
     7261 taatcatcat ccttttgttt attttaccac catttagtgc cttaaatcct atcaagaaag
     7321 cagtgttact gctcaatgcc caaataagac acgcggatat tgctattgtc ttgcttttga
     7381 gttaacaggc caacttttta tacttaaaac ctcagtaaac tggcaaagaa ttgaaggtaa
     7441 tgtgatttga tttgagaata aaacattgta gcattgggtg aaaaatgagt atttgagtta
     7501 agcttacata tttatttctg atggttatct tattaaaagc aataatcctt aatactgtac
     7561 ttgccattag actaggtact cagtaatgga agtttctctc aagggttaaa tgttccattt
     7621 ttgaaagttt taaaaaacct gtttgggtgg tttattttga aaacaaaagt aacctattag
     7681 attcattttg cctaactcat atgagagatg cagagtatca acagtgggag catcataaaa
     7741 tgaattttcc aagtggagag gagtaggaag cagccatatg atagtattga ctctggacag
     7801 aattgatgtc tttcgtttcc aaagtgcaga gtagggaact acatttccta atgtggcatt
     7861 gtaaatatac atctttatat tactcttcca gcctacgttc ctaaatcatt gataatttaa
     7921 atatttttta aagccacctt aatttaggta gctcttggaa tcgatgtttg aattcactag
     7981 ccacattttc ttcatgatat gcctcgtggc aaacaaagat gtttccttaa gatgaatctt
     8041 acatttccca tagaaaataa cccatttcct ttggcactgc agttgccctc aaactgcttg
     8101 cagttgtatt cattttagta caacaaaggt tttcataata tgggaggcca agtctatgat
     8161 actgcctcaa agagacccta ttgtgtagat gcatcatctt ctctcatttg atccatagag
     8221 cataggcaaa gatgtcaacc tcaggcctta gagaaaagtg gaaatgttat tatgacagcc
     8281 gtccatgagt tatcgctttg tatgaagtta aatacagtca tgcgttgctt aacagcaggg
     8341 atacattctg agaaatgcat tgttaggcaa ttccgttgtg cgaacatcct agtgtactta
     8401 cacaaaccta ggtggcatag cccacaacgt acccaggcta tatggtaaac ctgtacagca
     8461 tgttactgta ctgaatactg taggcagttg taacacaatg gtatttgtgt atctagacat
     8521 agaaaacata cagtaagaat atggtattat aatcttacgg gaccactgtc aaatacgcgg
     8581 tctgtctttg aaaagttgta atgcggcgca tgactataaa tacctagctg gttagcattt
     8641 acattccttg ccagggagtt tgaaatttat actatagaaa taactttagg ttttaggtag
     8701 agttaaagag gtaaagcaca tgttgccaca acccaggaaa gtatttttaa gaaagattgg
     8761 attttcctac ctttagagat ctaaaaaaaa tttaatataa aaaatcattt tgtgttggtg
     8821 tttattacta gttcagatga gtggctgctg aaggggcccc cttgtcattt tcattataac
     8881 ccaatttcca cttatttgaa ctcttaagtc ataaatgtat aatgacttat gaattagcac
     8941 agttaagttg acactagaaa ctgcccattt ctgtattaca ctatcaaata ggaaacattg
     9001 gaaagatggg gaaaaaaatc ttattttaaa atggcttaga aagttttcag attactttga
     9061 aaattctaaa cttctttctg tttccaaaac ttgaaaatat gtagatggac tcatgcatta
     9121 agactgtttt caaagctttc ctcacatttt taaagtgtga ttttcctttt aatatacata
     9181 tttattttct ttaaagcagc tatatcccaa cccatgactt tggagatata cctataaaac
     9241 caatataaca gcagggttat tgaagcagct ttctcaaatg ttgcttcaga tgtgcaagtt
     9301 gcaaatttta ttgtatttgt agaatacaat ttttgtttta aactgtattt caatctattt
     9361 ctccaagatg cttttcatat agagtgaaat atcccaggat aactgcttct gtgtcagtcg
     9421 catttgacgc ataactgcac aaatgaacag tgtatactct tggttgtgca ttaacttaca
     9481 tgtataattt ttggcatctg tgttcacaaa tgcatgtgtt agcaaatcac ctttatttat
     9541 aagtgacaat aattgaagtt aaggatataa agaaacctgc atttgtagtc cagcgttttc
     9601 atttggtcca taacacaatg tatggaaatg tgaaagacaa ttttgtacat ttgtttgtta
     9661 ctaactcaga tcattaaaat gaaaacaatt tttttaaaca agaaaa
//
LOCUS       NM_001077               2481 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens UDP glucuronosyltransferase family 2 member B17
            (UGT2B17), mRNA.
ACCESSION   NM_001077
VERSION     NM_001077.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2481)
  AUTHORS   Wagner A, Rouleau M, Villeneuve L, Le T, Peltier C, Allain EP,
            Beaudoin C, Tremblay S, Courtier F, Nguyen Van Long F, Laverdiere I,
            Levesque E, Banerji V, Vanura K and Guillemette C.
  TITLE     A Non-Canonical Role for the Glycosyltransferase Enzyme UGT2B17 as a
            Novel Constituent of the B Cell Receptor Signalosome
  JOURNAL   Cells 12 (9), 1295 (2023)
   PUBMED   37174695
  REMARK    GeneRIF: A Non-Canonical Role for the Glycosyltransferase Enzyme
            UGT2B17 as a Novel Constituent of the B Cell Receptor Signalosome.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2481)
  AUTHORS   Rouleau M, Nguyen Van Long F, Turcotte V, Caron P, Lacombe L,
            Aprikian A, Saad F, Carmel M, Chevalier S, Levesque E and
            Guillemette C.
  TITLE     Extensive metabolic consequences of human glycosyltransferase gene
            knockouts in prostate cancer
  JOURNAL   Br J Cancer 128 (2), 285-296 (2023)
   PUBMED   36347965
  REMARK    GeneRIF: Extensive metabolic consequences of human
            glycosyltransferase gene knockouts in prostate cancer.
REFERENCE   3  (bases 1 to 2481)
  AUTHORS   Yu Y, Zhang Z, Dong X, Yang R, Duan Z, Xiang Z, Li J, Li G, Yan F,
            Xue H, Jiao D, Lu J, Lu H, Zhang W, Wei Y, Fan S, Li J, Jia J, Zhang
            J, Ji J, Liu P, Lu H, Zhao H, Chen S, Wei C, Chen H and Zhu Z.
  TITLE     Pangenomic analysis of Chinese gastric cancer
  JOURNAL   Nat Commun 13 (1), 5412 (2022)
   PUBMED   36109518
  REMARK    GeneRIF: Genes ACOT1, GSTM1, SIGLEC14 and UGT2B17 are identified as
            highly absent genes in gastric cancer population. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 2481)
  AUTHORS   Salhab H, Naughton DP and Barker J.
  TITLE     Potential Assessment of UGT2B17 Inhibition by Salicylic Acid in
            Human Supersomes In Vitro
  JOURNAL   Molecules 26 (15), 4410 (2021)
   PUBMED   34361561
  REMARK    GeneRIF: Potential Assessment of UGT2B17 Inhibition by Salicylic
            Acid in Human Supersomes In Vitro. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2481)
  AUTHORS   Shafiee-Kermani F, Carney ST, Jima D, Utin UC, Farrar LB, Oputa MO,
            Hines MR, Kinyamu HK, Trotter KW, Archer TK, Hoyo C, Koller BH,
            Freedland SJ and Grant DJ.
  TITLE     Expression of UDP Glucuronosyltransferases 2B15 and 2B17 is
            associated with methylation status in prostate cancer cells
  JOURNAL   Epigenetics 16 (3), 289-299 (2021)
   PUBMED   32660355
  REMARK    GeneRIF: Expression of UDP Glucuronosyltransferases 2B15 and 2B17 is
            associated with methylation status in prostate cancer cells.
REFERENCE   6  (bases 1 to 2481)
  AUTHORS   Collier AC, Ganley NA, Tingle MD, Blumenstein M, Marvin KW, Paxton
            JW, Mitchell MD and Keelan JA.
  TITLE     UDP-glucuronosyltransferase activity, expression and cellular
            localization in human placenta at term
  JOURNAL   Biochem Pharmacol 63 (3), 409-419 (2002)
   PUBMED   11853692
REFERENCE   7  (bases 1 to 2481)
  AUTHORS   Beaulieu M, Levesque E, Tchernof A, Beatty BG, Belanger A and Hum
            DW.
  TITLE     Chromosomal localization, structure, and regulation of the UGT2B17
            gene, encoding a C19 steroid metabolizing enzyme
  JOURNAL   DNA Cell Biol 16 (10), 1143-1154 (1997)
   PUBMED   9364925
REFERENCE   8  (bases 1 to 2481)
  AUTHORS   Beaulieu M, Levesque E, Hum DW and Belanger A.
  TITLE     Isolation and characterization of a novel cDNA encoding a human
            UDP-glucuronosyltransferase active on C19 steroids
  JOURNAL   J Biol Chem 271 (37), 22855-22862 (1996)
   PUBMED   8798464
REFERENCE   9  (bases 1 to 2481)
  AUTHORS   Moghissi,E., Ablan,F. and Horton,R.
  TITLE     Origin of plasma androstanediol glucuronide in men
  JOURNAL   J Clin Endocrinol Metab 59 (3), 417-421 (1984)
   PUBMED   6746859
REFERENCE   10  (bases 1 to 2481)
  AUTHORS   Chung,L.W. and Coffey,D.S.
  TITLE     Androgen glucuronide. II. DIfferences in its formation by human
            normal and benign hyperplastic prostates
  JOURNAL   Invest Urol 15 (5), 385-388 (1978)
   PUBMED   76619
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.3138522.1,
            SRR1803613.246466.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2151358,
            SAMEA2153733 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000317746.3/ ENSP00000320401.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC147055.2 and AC134921.2.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Jun 17, 2020 this sequence version replaced
            XM_024454205.1, NM_001077.3.
            Summary: This gene encodes a member of the uridine
            diphosphoglucuronosyltransferase protein family. The encoded enzyme
            catalyzes the transfer of glucuronic acid from uridine
            diphosphoglucuronic acid to a diverse array of substrates including
            steroid hormones and lipid-soluble drugs. This process, known as
            glucuronidation, is an intermediate step in the metabolism of
            steroids. Copy number variation in this gene is associated with
            susceptibility to osteoporosis.[provided by RefSeq, Apr 2010].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2481
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.2"
     gene            1..2481
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
                     /note="UDP glucuronosyltransferase family 2 member B17"
                     /db_xref="GeneID:7367"
                     /db_xref="HGNC:HGNC:12547"
                     /db_xref="MIM:601903"
     misc_feature    389..391
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
                     /note="upstream in-frame stop codon"
     CDS             437..2029
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
                     /EC_number="2.4.1.17"
                     /note="UDP-glucuronyltransferase, family 2, beta-17;
                     UDP-glucuronosyltransferase 2B17; UDP glycosyltransferase 2
                     family, member B17; C19-steroid-specific
                     UDP-glucuronosyltransferase; C19-steroid-specific UDPGT;
                     UDP glucuronosyltransferase 2 family, polypeptide B17"
                     /codon_start=1
                     /product="UDP-glucuronosyltransferase 2B17 precursor"
                     /protein_id="NP_001068.1"
                     /db_xref="CCDS:CCDS3523.1"
                     /db_xref="GeneID:7367"
                     /db_xref="HGNC:HGNC:12547"
                     /db_xref="MIM:601903"
                     /translation="MSLKWMSVFLLMQLSCYFSSGSCGKVLVWPTEYSHWINMKTILEE
                     LVQRGHEVIVLTSSASILVNASKSSAIKLEVYPTSLTKNDLEDFFMKMFDRWTYSISKN
                     TFWSYFSQLQELCWEYSDYNIKLCEDAVLNKKLMRKLQESKFDVLLADAVNPCGELLAE
                     LLNIPFLYSLRFSVGYTVEKNGGGFLFPPSYVPVVMSELSDQMIFMERIKNMIYMLYFD
                     FWFQAYDLKKWDQFYSEVLGRPTTLFETMGKAEMWLIRTYWDFEFPRPFLPNVDFVGGL
                     HCKPAKPLPKEMEEFVQSSGENGIVVFSLGSMISNMSEESANMIASALAQIPQKVLWRF
                     DGKKPNTLGSNTRLYKWLPQNDLLGHPKTKAFITHGGTNGIYEAIYHGIPMVGIPLFAD
                     QHDNIAHMKAKGAALSVDIRTMSSRDLLNALKSVINDPIYKENIMKLSRIHHDQPVKPL
                     DRAVFWIEFVMRHKGAKHLRVAAHNLTWIQYHSLDVIAFLLACVATMIFMITKCCLFCF
                     RKLAKTGKKKKRD"
     sig_peptide     437..508
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     509..2026
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
                     /product="UDP-glucuronosyltransferase 2B17"
     misc_feature    629..631
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O75795.1); glycosylation site"
     misc_feature    1382..1384
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O75795.1); glycosylation site"
     misc_feature    1883..1885
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (O75795.1); glycosylation site"
     misc_feature    1919..1981
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
                     /note="propagated from UniProtKB/Swiss-Prot (O75795.1);
                     transmembrane region"
     regulatory      2236..2241
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
                     /note="hexamer: AATAAT"
     regulatory      2244..2249
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
                     /note="hexamer: TATAAA"
     polyA_site      2255
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
                     /note="major polyA site"
     polyA_site      2263
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
     regulatory      2449..2454
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
                     /note="hexamer: AATGAA"
     regulatory      2465..2470
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
                     /note="hexamer: ATTAAA"
     polyA_site      2470
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
     polyA_site      2481
                     /gene="UGT2B17"
                     /gene_synonym="BMND12; UDPGT2B17"
ORIGIN
        1 gagctcagat tttaaggcag tatcttgcca atgttcccag ctgaataaag cccttccttc
       61 tacaactcga tgtctgagag gttttgtctg tggctcgtcc tgctacattt cttggctccc
      121 tgacccagaa gcaaggtgac tgacggaagg ctgaggcagc cccttaggtg gcttaagcct
      181 gccctgtgga gcatccctgt ggggtactcc gggcagcctg agtgatgaga tccaaagagc
      241 gctcctgggt aggaaattgc cccagtggaa cacctcacca gatcaacacg tagcaggccc
      301 ccgtggagga ttaacacagt ggctgaacac cgggaaggaa ctggcacttg gagtctggac
      361 atctggaact tgatataagt atgagaaatg acagaaagaa acaacaactg gaaaagaagc
      421 actgcataag accaggatgt ctctgaaatg gatgtcagtc tttctgctga tgcagctcag
      481 ttgttacttt agctctggga gttgtggaaa ggtgctggtg tggcccacag aatacagcca
      541 ttggataaat atgaagacaa tcctggaaga gcttgttcag aggggtcatg aggtgattgt
      601 gttgacatct tcggcttcta ttcttgtcaa tgccagtaaa tcatctgcta ttaaattaga
      661 agtttatcct acatctttaa ctaaaaatga tttggaagat ttttttatga aaatgttcga
      721 tagatggaca tatagtattt caaaaaatac attttggtca tatttttcac aactacaaga
      781 attgtgttgg gaatattctg actataatat aaagctctgt gaagatgcag ttttgaacaa
      841 gaaacttatg agaaaactac aagagtcaaa atttgatgtc cttctggcag atgccgttaa
      901 tccctgtggt gagctgctgg ctgagctact taacataccc tttctgtaca gtctccgctt
      961 ctctgttggc tacacagttg agaagaatgg tggaggattt ctgttccctc cttcctatgt
     1021 acctgttgtt atgtcagaat taagtgatca aatgattttc atggagagga taaaaaatat
     1081 gatatatatg ctttattttg acttttggtt tcaagcatat gatctgaaga agtgggacca
     1141 gttttatagt gaagttctag gaagacccac tacattattt gagacaatgg ggaaagctga
     1201 aatgtggctc attcgaacct attgggattt tgaatttcct cgcccattct taccaaatgt
     1261 tgattttgtt ggaggacttc actgtaaacc agccaaaccc ttgcctaagg aaatggaaga
     1321 gtttgtgcag agctctggag aaaatggtat tgtggtgttt tctctggggt cgatgatcag
     1381 taacatgtca gaagaaagtg ccaacatgat tgcatcagcc cttgcccaga tcccacaaaa
     1441 ggttctatgg agatttgatg gcaagaagcc aaatacttta ggttccaata ctcgactgta
     1501 taagtggtta ccccagaatg accttcttgg tcatcccaaa accaaagctt ttataactca
     1561 tggtggaacc aatggcatct atgaggcaat ctaccatggg atccctatgg tgggcattcc
     1621 cttgtttgcg gatcaacatg ataacattgc tcacatgaaa gccaagggag cagccctcag
     1681 tgtggacatc aggaccatgt caagtagaga tttgctcaat gcattgaagt cagtcattaa
     1741 tgaccctatc tataaagaga atatcatgaa attatcaaga attcatcatg atcaaccggt
     1801 gaagcccctg gatcgagcag tcttctggat tgagtttgtc atgcgccata aaggagccaa
     1861 gcaccttcgg gtcgcagccc acaacctcac ctggatccag taccactctt tggatgtgat
     1921 agcattcctg ctggcctgcg tggcaactat gatatttatg atcacaaaat gttgcctgtt
     1981 ttgtttccga aagcttgcca aaacaggaaa gaagaagaaa agggattagt tatatcaaaa
     2041 gcctgaagtg gaatgaccaa aagatgggac tcctccttta ttccagcatg gagggtttta
     2101 aatggaggat ttcctttttc ctgcgacaaa acgtcttttc acaacttacc ctgttaagtc
     2161 aaaatttatt ttccaggaat ttaatatgta ctttagttgg aattattcta tgtcaatgat
     2221 ttttaagcta tgaaaaataa taatataaaa ccttatgggc ttatattgaa atttattatt
     2281 ctaatccaaa agttacccca cacaaaagtt actgagcttc cttatgtttc acacattgta
     2341 tttgaacaca aaacattaac aactccactc atagtatcaa cattgttttg caaatactca
     2401 gaatattttg gcttcatttt gagcagaatt tttgttttta attttgccaa tgaaatcttc
     2461 aataattaaa ttatgtaaaa a
//
LOCUS       NM_001077195            4465 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 436 (ZNF436), transcript variant 1,
            mRNA.
ACCESSION   NM_001077195
VERSION     NM_001077195.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4465)
  AUTHORS   Zhang L, Chang S, Zhao Y, Cao G and Zhang D.
  TITLE     MicroRNA-4317 suppresses the progression of hepatocellular carcinoma
            by targeting ZNF436-mediated PI3K/AKT signaling pathway
  JOURNAL   Tissue Cell 74, 101696 (2022)
   PUBMED   34861581
  REMARK    GeneRIF: MicroRNA-4317 suppresses the progression of hepatocellular
            carcinoma by targeting ZNF436-mediated PI3K/AKT signaling pathway.
REFERENCE   2  (bases 1 to 4465)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 4465)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 4465)
  AUTHORS   Shang Y, Li Y, Zhang Y and Wang J.
  TITLE     ZNF436 promotes tumor cell proliferation through transcriptional
            activation of BCL10 in glioma
  JOURNAL   Biochem Biophys Res Commun 515 (4), 572-578 (2019)
   PUBMED   31178130
  REMARK    GeneRIF: ZNF436 has a role in promoting tumor cell proliferation
            through transcriptional activation of BCL10 in glioma
REFERENCE   5  (bases 1 to 4465)
  AUTHORS   Weimann M, Grossmann A, Woodsmith J, Ozkan Z, Birth P, Meierhofer D,
            Benlasfer N, Valovka T, Timmermann B, Wanker EE, Sauer S and Stelzl
            U.
  TITLE     A Y2H-seq approach defines the human protein methyltransferase
            interactome
  JOURNAL   Nat Methods 10 (4), 339-342 (2013)
   PUBMED   23455924
REFERENCE   6  (bases 1 to 4465)
  AUTHORS   Li Y, Du X, Li F, Deng Y, Yang Z, Wang Y, Pen Z, Wang Z, Yuan W, Zhu
            C and Wu X.
  TITLE     A novel zinc-finger protein ZNF436 suppresses transcriptional
            activities of AP-1 and SRE
  JOURNAL   Mol Biol Rep 33 (4), 287-294 (2006)
   PUBMED   17089209
  REMARK    GeneRIF: ZNF436 is a member of the zinc finger transcription factor
            family and may act as a negative regulator in gene transcription
            mediated by the MAPK signaling pathways.
REFERENCE   7  (bases 1 to 4465)
  AUTHORS   Lichter P, Bray P, Ried T, Dawid IB and Ward DC.
  TITLE     Clustering of C2-H2 zinc finger motif sequences within telomeric and
            fragile site regions of human chromosomes
  JOURNAL   Genomics 13 (4), 999-1007 (1992)
   PUBMED   1505991
REFERENCE   8  (bases 1 to 4465)
  AUTHORS   Bray P, Lichter P, Thiesen HJ, Ward DC and Dawid IB.
  TITLE     Characterization and mapping of human genes encoding zinc finger
            proteins
  JOURNAL   Proc Natl Acad Sci U S A 88 (21), 9563-9567 (1991)
   PUBMED   1946370
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.264439.1,
            SRR1660805.71455.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2149398,
            SAMEA2467147 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000314011.9/ ENSP00000313582.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL109936.11 and AB051497.1.
            On Nov 23, 2018 this sequence version replaced NM_001077195.1.
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4465
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     gene            1..4465
                     /gene="ZNF436"
                     /gene_synonym="Zfp46; ZNF"
                     /note="zinc finger protein 436"
                     /db_xref="GeneID:80818"
                     /db_xref="HGNC:HGNC:20814"
                     /db_xref="MIM:611703"
     misc_feature    373..375
                     /gene="ZNF436"
                     /gene_synonym="Zfp46; ZNF"
                     /note="upstream in-frame stop codon"
     CDS             532..1944
                     /gene="ZNF436"
                     /gene_synonym="Zfp46; ZNF"
                     /note="isoform 1 is encoded by transcript variant 1;
                     DNA-binding protein"
                     /codon_start=1
                     /product="zinc finger protein 436 isoform 1"
                     /protein_id="NP_001070663.1"
                     /db_xref="CCDS:CCDS233.1"
                     /db_xref="GeneID:80818"
                     /db_xref="HGNC:HGNC:20814"
                     /db_xref="MIM:611703"
                     /translation="MAATLLMAGSQAPVTFEDMAMYLTREEWRPLDAAQRDLYRDVMQE
                     NYGNVVSLDFEIRSENEVNPKQEISEDVQFGTTSERPAENAEENPESEEGFESGDRSER
                     QWGDLTAEEWVSYPLQPVTDLLVHKEVHTGIRYHICSHCGKAFSQISDLNRHQKTHTGD
                     RPYKCYECGKGFSRSSHLIQHQRTHTGERPYDCNECGKSFGRSSHLIQHQTIHTGEKPH
                     KCNECGKSFCRLSHLIQHQRTHSGEKPYECEECGKSFSRSSHLAQHQRTHTGEKPYECN
                     ECGRGFSERSDLIKHYRVHTGERPYKCDECGKNFSQNSDLVRHRRAHTGEKPYHCNECG
                     ENFSRISHLVQHQRTHTGEKPYECNACGKSFSRSSHLITHQKIHTGEKPYECNECWRSF
                     GERSDLIKHQRTHTGEKPYECVQCGKGFTQSSNLITHQRVHTGEKPYECTECEKSFSRS
                     SALIKHKRVHTD"
     misc_feature    715..840
                     /gene="ZNF436"
                     /gene_synonym="Zfp46; ZNF"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0F3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3915..3920
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF436"
                     /gene_synonym="Zfp46; ZNF"
                     /note="hexamer: AATAAA"
     polyA_site      3938
                     /gene="ZNF436"
                     /gene_synonym="Zfp46; ZNF"
                     /note="major polyA site"
     regulatory      4441..4446
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF436"
                     /gene_synonym="Zfp46; ZNF"
                     /note="hexamer: ATTAAA"
     polyA_site      4465
                     /gene="ZNF436"
                     /gene_synonym="Zfp46; ZNF"
                     /note="major polyA site"
ORIGIN
        1 cttccctctc caaggctaca gcgagctggg agctcttccc cacgcagaat gcctgctttc
       61 cccagtgctc gacttccatt gtctaattcc ctcatcctgg ctggggaaag ggagagctgc
      121 gagtcctccc gttccgagga actccagctg aatgcagctt agttgctggt ggtttctcgg
      181 ccagcctctg tggtctcagg gatctgccta tgagcctgtg gtttctgagc tgcctgcgag
      241 tctgaggcct cgggaatctg agtctttagg atcagcctac gatatctggg cttcgcctgc
      301 aagtctacga attcgagatc tacctgcggg tctgagacct ccgggacctg cccgtgctct
      361 ctagaatctt cctgaacgcc aggtctgaga gaacgctgcg gctctggaac ccgttcgcgg
      421 tctctcaggt tttggagacg acgatctagt ggatcttttg cgggacagga gcgctgtctg
      481 ctagctgctt ttcctgctct ctctccctgg aggcgaaccc ttgtgctcga gatggcagcc
      541 accctgctca tggctgggtc ccaggcacct gtgacgtttg aagatatggc catgtatctc
      601 acccgggaag aatggagacc tctggacgct gcacagaggg acctttaccg ggatgttatg
      661 caggagaatt atggaaatgt tgtctcacta gattttgaga tcaggagtga gaacgaggta
      721 aatcccaagc aagagattag tgaagatgta caatttggga ctacatctga aagacctgct
      781 gagaatgctg aggaaaatcc tgaaagtgaa gagggctttg aaagcggaga taggtcagaa
      841 agacaatggg gagatttaac agcagaagag tgggtaagct atcctctcca accagtcact
      901 gatctacttg tccacaaaga agtccacaca ggcatccgct atcatatatg ttctcattgt
      961 ggaaaggcct tcagtcagat ctcagacctt aatcgacatc agaagaccca cactggagac
     1021 agaccctata aatgttatga atgtggaaaa ggcttcagtc gcagctcaca ccttattcag
     1081 catcaaagaa cacatactgg ggagaggcct tatgactgta acgagtgtgg gaaaagtttt
     1141 ggaagaagtt ctcacctgat tcagcatcag acaatccaca ctggagagaa gcctcacaaa
     1201 tgtaatgagt gtggaaaaag tttctgccgt ctctctcacc taatccaaca ccaaaggacc
     1261 cacagtggtg agaaacccta tgagtgtgag gagtgtggga aaagcttcag ccggagctct
     1321 cacctagctc agcaccagag gacccacacg ggtgagaaac cttatgaatg taacgaatgt
     1381 ggccgaggct tcagtgagag atctgatctc atcaaacact atcgagtcca cacaggggag
     1441 aggccctaca agtgtgatga gtgtgggaag aatttcagtc agaactccga ccttgtgcgt
     1501 catcgcagag cccacacggg agagaagcca taccactgta acgaatgtgg ggaaaatttc
     1561 agccgcatct cacacttggt tcagcaccag agaactcaca ctggagagaa gccatatgaa
     1621 tgcaatgctt gtgggaaaag cttcagccgg agctctcatc tcatcacaca ccagaaaatt
     1681 cacactggag agaagcctta tgagtgtaat gagtgttggc gaagctttgg tgaaaggtca
     1741 gatctaatta aacatcagag aacccacaca ggggagaagc cctacgagtg tgtgcagtgt
     1801 gggaaaggtt tcacccagag ctccaacctc atcacacatc aaagagttca cacgggagag
     1861 aaaccttatg aatgtaccga atgtgagaag agtttcagca ggagctcagc tcttattaaa
     1921 cataagagag ttcatacgga ctaagctgta attatgatgg ctgagaaatg attcatttga
     1981 agatacaatt ttatttgata tcaatgaacg ccctcaagac tgagctgctt ttatcatact
     2041 ctcctagttg tgggccacga tttaaaccat cagagatgac aagccatttg aaattctgac
     2101 cctcagcttt gggaatgtta tctcctccaa aatggtgatt tttattcact caatgggtta
     2161 cttcattaaa agcagcccca caagtaactg gaaatctgaa gaccagggga caaatgctgg
     2221 tgaatgctta ggcctggaaa tggagtaaat ctttcaatgt tattttctcc catccttggc
     2281 ccaaggaact atgctaagtg aaacgtggga ctgtaatagg gtggtaatgg ctgctttgga
     2341 aaaaggcaac tagagactct gcctaaattg ccacacctat tcacacacca tagtagttgg
     2401 gcacacacat cttcccttcc aaagggcttt ttccttgagt tgctcatgca tttgtatctt
     2461 ttccatcttc ctgagggcaa gattttgcac gatgaaggca atgattgtaa cttttctcct
     2521 tctcattgtt tctaattagc tcctttaaag cttgcatctt tgtgaaggct aactgaagat
     2581 acggttggaa aggaaaaatg agacacaggt ttggggacca aggacccatc aatgatggtg
     2641 actttagcag aagatgccca cagttattac tgccattaat cagatttatg aattttcttt
     2701 ggggatcact atagggaata ttgtatagaa aatatcttca agaaaagata ggaccatcag
     2761 tgacagttaa gtgtaaggag caagtggaat tgagtccttc agggaaggaa ccacagagtc
     2821 ccttcccaag gaatgtaggt cgtttctgtg ttctttccct tctaatcttt aagatcaact
     2881 cttcctatcc tgctaactct aagatttgat aagggccaca tcccagtgtt tatcttagct
     2941 tgcatcaggg catgtgtatg tacagtaatg tgtattcctg tggtttttct aatagaaact
     3001 gaatttacag agacttagca tgttcttggg tgatgtgagt catgtgacag aagtacagac
     3061 ataactccaa tgtgagaaat gtcctttttt cattatggaa aataatttaa acactagtgc
     3121 tttagtgtgc actctcctgt aaggtctgtc tttgtacaga gctaagcact tgtttgtatg
     3181 tgtttgtcaa ttgtggaaga taatgaccag acaaataggt cgattgtcct attctcagaa
     3241 tgaattatct tctatggtaa tgaagaactc tttggcttag tcagaaggaa ttaacgaacc
     3301 tcggtaggaa tgtatttcca tcctcccacc ctacagatat aagaggttaa aataacagtt
     3361 cgcccaattt aagcccagta gtgtcagttt tcctaatctc agtccaggta ggaattaaga
     3421 aatatctcaa gtgttgatgc tatccaagca tgttggggtg gaagggaatt ggtgcccaga
     3481 aaatgggact ggagtgagga atatcttttc ttttgagagt acccccagtt tatttctact
     3541 gtgctttatt gctactgttc tttattgtga atgttgtaac attttaaaaa tgttttgcca
     3601 tagcttttta ggacttggtg ttaaaggagc cagtggtctc tctgggtggg tactataatg
     3661 agttattgtg acccacagct gtgtgggacc acatcacttg ttaataacac aacctttaaa
     3721 gtaacccatc ttccaggggg gttccttcat gttgccactc ctttttaagg acaaactcag
     3781 gcaaggagca tgtttttttg ttatttacaa aatctagcag actgtgggta tccatatttt
     3841 aattgtcggg tgacacatgt tcttggtaac taaactcaaa tatgtctttt ctcatatatg
     3901 ttgctgatgg ttttaataaa tgtcaaagtt ctcctgttgc ttctgtgagc cactatgggt
     3961 atcagcttgg gagtggccat agatgaccgc atttccatga cctaactgta tttcaccccc
     4021 ttttccttcc ctactgttct tgccccaccc caaccagttc ctgctgctgc ttttggcttc
     4081 ttggaggtga agggcttaaa acaaggcttc taagcaccca gctatctcca tacatgaaca
     4141 atctagctgg gaaacttaag ggacaagggc cacaccagct gtctcctctt tctgccaatt
     4201 gttgcccgtt tgctgtgttg aactttgtat agaactcatg catcagactc ccttcactaa
     4261 tgctttttgc atgccttctg ctcccaagtc cctggctgcc tctgcacatc ccgtgaacac
     4321 tttgtgcctg ttttctatgg ttgtggagaa ttaatgaaca aatcaatatg tagaacagtt
     4381 ttccttatgg tattggtcac agttatccta gtgtttgtat tattctaaca atattctata
     4441 attaaaaata taatttttaa agtca
//
LOCUS       NM_001077198            3770 bp    mRNA    linear   PRI 02-AUG-2023
DEFINITION  Homo sapiens autophagy related 9A (ATG9A), transcript variant 1,
            mRNA.
ACCESSION   NM_001077198
VERSION     NM_001077198.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3770)
  AUTHORS   Kliche J, Garvanska DH, Simonetti L, Badgujar D, Dobritzsch D,
            Nilsson J, Davey NE and Ivarsson Y.
  TITLE     Large-scale phosphomimetic screening identifies phospho-modulated
            motif-based protein interactions
  JOURNAL   Mol Syst Biol 19 (7), e11164 (2023)
   PUBMED   37219487
REFERENCE   2  (bases 1 to 3770)
  AUTHORS   Broadbent DG, Barnaba C, Perez GI and Schmidt JC.
  TITLE     Quantitative analysis of autophagy reveals the role of ATG9 and ATG2
            in autophagosome formation
  JOURNAL   J Cell Biol 222 (7) (2023)
   PUBMED   37115157
  REMARK    GeneRIF: Quantitative analysis of autophagy reveals the role of ATG9
            and ATG2 in autophagosome formation.
REFERENCE   3  (bases 1 to 3770)
  AUTHORS   Yang Y and Klionsky DJ.
  TITLE     A novel role of ATG9A and RB1CC1/FIP200 in mediating cell-death
            checkpoints to repress TNF cytotoxicity
  JOURNAL   Autophagy 19 (6), 1617-1618 (2023)
   PUBMED   36892222
  REMARK    GeneRIF: A novel role of ATG9A and RB1CC1/FIP200 in mediating
            cell-death checkpoints to repress TNF cytotoxicity.
REFERENCE   4  (bases 1 to 3770)
  AUTHORS   Li J, Zhang S, Zhang Y, Dai Y, Zhang Y, Yang A, Hong F and Pan Y.
  TITLE     Atg9A-mediated mitophagy is required for decidual differentiation of
            endometrial stromal cells
  JOURNAL   Reprod Biol 22 (4), 100707 (2022)
   PUBMED   36343573
  REMARK    GeneRIF: Atg9A-mediated mitophagy is required for decidual
            differentiation of endometrial stromal cells.
REFERENCE   5  (bases 1 to 3770)
  AUTHORS   Li S, Zhao L, Zhang B, Yuan Y, Cao H and Yu Z.
  TITLE     Ultrasound cardiogram-based diagnosis of cardiac hypertrophy from
            hypertension and analysis of its relationship with expression of
            autophagy-related protein
  JOURNAL   Ann Palliat Med 11 (2), 684-694 (2022)
   PUBMED   35249346
  REMARK    GeneRIF: Ultrasound cardiogram-based diagnosis of cardiac
            hypertrophy from hypertension and analysis of its relationship with
            expression of autophagy-related protein.
REFERENCE   6  (bases 1 to 3770)
  AUTHORS   Zhang X, Yang H, Lee JJ, Kim E, Lippman SM, Khuri FR, Spitz MR,
            Lotan R, Hong WK and Wu X.
  TITLE     MicroRNA-related genetic variations as predictors for risk of second
            primary tumor and/or recurrence in patients with early-stage head
            and neck cancer
  JOURNAL   Carcinogenesis 31 (12), 2118-2123 (2010)
   PUBMED   20819778
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   7  (bases 1 to 3770)
  AUTHORS   Webber JL and Tooze SA.
  TITLE     Coordinated regulation of autophagy by p38alpha MAPK through mAtg9
            and p38IP
  JOURNAL   EMBO J 29 (1), 27-40 (2010)
   PUBMED   19893488
  REMARK    GeneRIF: Manipulation of p38IP and p38alpha alters mAtg9
            localization, suggesting p38alpha regulates, through p38IP, the
            starvation-induced mAtg9 trafficking to forming autophagosomes.
            GeneRIF: ATG9A was found by co-immunoprecipitation to interact with
            FAM48A/p38IP/q8NEM7.2.
REFERENCE   8  (bases 1 to 3770)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   9  (bases 1 to 3770)
  AUTHORS   Young AR, Chan EY, Hu XW, Kochl R, Crawshaw SG, High S, Hailey DW,
            Lippincott-Schwartz J and Tooze SA.
  TITLE     Starvation and ULK1-dependent cycling of mammalian Atg9 between the
            TGN and endosomes
  JOURNAL   J Cell Sci 119 (Pt 18), 3888-3900 (2006)
   PUBMED   16940348
  REMARK    GeneRIF: First demonstration that mammalian Atg9A, originally called
            mAtg9, is required for starvation-induced autophagy, and localizes
            to Golgi and endosomes.
REFERENCE   10  (bases 1 to 3770)
  AUTHORS   Yamada T, Carson AR, Caniggia I, Umebayashi K, Yoshimori T,
            Nakabayashi K and Scherer SW.
  TITLE     Endothelial nitric-oxide synthase antisense (NOS3AS) gene encodes an
            autophagy-related protein (APG9-like2) highly expressed in
            trophoblast
  JOURNAL   J Biol Chem 280 (18), 18283-18290 (2005)
   PUBMED   15755735
  REMARK    GeneRIF: In human adult tissues APG9L1 is ubiquitously expressed.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BK004018.1, AK056595.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000361242.9/ ENSP00000355173.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC347583.1, BK004018.1 and BC065534.1.
            On Nov 23, 2018 this sequence version replaced NM_001077198.2.
            Transcript Variant: This variant (1) and variant 2 encode the same
            protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3770
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..3770
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="autophagy related 9A"
                     /db_xref="GeneID:79065"
                     /db_xref="HGNC:HGNC:22408"
                     /db_xref="MIM:612204"
     CDS             184..2703
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="autophagy 9-like 1 protein; APG9-like 1; APG9
                     autophagy 9-like 1; ATG9 autophagy related 9 homolog A"
                     /codon_start=1
                     /product="autophagy-related protein 9A"
                     /protein_id="NP_001070666.1"
                     /db_xref="CCDS:CCDS42820.1"
                     /db_xref="GeneID:79065"
                     /db_xref="HGNC:HGNC:22408"
                     /db_xref="MIM:612204"
                     /translation="MAQFDTEYQRLEASYSDSPPGEEDLLVHVAEGSKSPWHHIENLDL
                     FFSRVYNLHQKNGFTCMLIGEIFELMQFLFVVAFTTFLVSCVDYDILFANKMVNHSLHP
                     TEPVKVTLPDAFLPAQVCSARIQENGSLITILVIAGVFWIHRLIKFIYNICCYWEIHSF
                     YLHALRIPMSALPYCTWQEVQARIVQTQKEHQICIHKRELTELDIYHRILRFQNYMVAL
                     VNKSLLPLRFRLPGLGEAVFFTRGLKYNFELILFWGPGSLFLNEWSLKAEYKRGGQRLE
                     LAQRLSNRILWIGIANFLLCPLILIWQILYAFFSYAEVLKREPGALGARCWSLYGRCYL
                     RHFNELEHELQSRLNRGYKPASKYMNCFLSPLLTLLAKNGAFFAGSILAVLIALTIYDE
                     DVLAVEHVLTTVTLLGVTVTVCRSFIPDQHMVFCPEQLLRVILAHIHYMPDHWQGNAHR
                     SQTRDEFAQLFQYKAVFILEELLSPIVTPLILIFCLRPRALEIIDFFRNFTVEVVGVGD
                     TCSFAQMDVRQHGHPQWLSAGQTEASVYQQAEDGKTELSLMHFAITNPGWQPPRESTAF
                     LGFLKEQVQRDGAAASLAQGGLLPENALFTSIQSLQSESEPLSLIANVVAGSSCRGPPL
                     PRDLQGSRHRAEVASALRSFSPLQPGQAPTGRAHSTMTGSGVDARTASSGSSVWEGQLQ
                     SLVLSEYASTEMSLHALYMHQLHKQQAQAEPERHVWHRRESDESGESAPDEGGEGARAP
                     QSIPRSASYPCAAPRPGAPETTALHGGFQRRYGGITDPGTVPRVPSHFSRLPLGGWAED
                     GQSASRHPEPVPEEGSEDELPPQVHKV"
     misc_feature    184..243
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3C6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    187..189
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q7Z3C6.3); acetylation site"
     misc_feature    205..216
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3C6.3);
                     Region: Tyrosine-based sorting signal.
                     /evidence=ECO:0000269|PubMed:29180427"
     misc_feature    223..225
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7Z3C6.3); phosphorylation site"
     misc_feature    229..231
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q68FE2; propagated from
                     UniProtKB/Swiss-Prot (Q7Z3C6.3); phosphorylation site"
     misc_feature    235..237
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7Z3C6.3); phosphorylation site"
     misc_feature    367..435
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3C6.3);
                     transmembrane region"
     misc_feature    478..480
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16940348,
                     ECO:0000269|PubMed:27316455; propagated from
                     UniProtKB/Swiss-Prot (Q7Z3C6.3); glycosylation site"
     misc_feature    568..645
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3C6.3);
                     transmembrane region"
     misc_feature    1297..1374
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3C6.3);
                     transmembrane region"
     misc_feature    1402..1455
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3C6.3);
                     transmembrane region"
     misc_feature    2149..2241
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3C6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2149..2151
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7Z3C6.3); phosphorylation site"
     misc_feature    2332..2700
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z3C6.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2386..2388
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q7Z3C6.3);
                     phosphorylation site"
     misc_feature    2395..2397
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q7Z3C6.3); phosphorylation site"
     misc_feature    2404..2406
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q7Z3C6.3); phosphorylation site"
     misc_feature    2665..2667
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q7Z3C6.3); phosphorylation site"
     regulatory      3748..3753
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="hexamer: AATAAA"
     polyA_site      3770
                     /gene="ATG9A"
                     /gene_synonym="APG9L1; mATG9; MGD3208"
                     /note="major polyA site"
ORIGIN
        1 gagtggcaga cacccggcct agcgccgcgg gtcgcgccga gccgagccga gccgagcgga
       61 gccggcggag cctctggaat cacccgggtc gctgttcctg agcagctgca gagcatcgag
      121 ggctggagag gagcacatac tgtccatgga gctggtggtc aaggtggaca gggggcggtg
      181 gtgatggcgc agtttgacac tgaataccag cgcctagagg cctcctatag tgattcaccc
      241 ccaggggagg aggacctgtt ggtgcacgtc gccgagggga gcaagtcacc ttggcaccat
      301 attgaaaacc ttgacctctt cttctctcga gtttataatc tgcaccagaa gaatggcttc
      361 acatgtatgc tcatcgggga gatctttgag ctcatgcagt tcctctttgt ggttgccttc
      421 actaccttcc tggtcagctg cgtggactat gacatcctat ttgccaacaa gatggtgaac
      481 cacagtcttc accctactga acccgtcaag gtcactctgc cagacgcctt tttgcctgct
      541 caagtctgta gtgccaggat tcaggaaaat ggctccctta tcaccatcct ggtcattgct
      601 ggtgtcttct ggatccaccg gcttatcaag ttcatctata acatttgctg ctactgggag
      661 atccactcct tctacctgca cgctctgcgc atccctatgt ctgcccttcc gtattgcacg
      721 tggcaagaag tgcaggcccg gatcgtgcag acgcagaagg agcaccagat ctgcatccac
      781 aaacgtgagc tgacagaact ggacatctac caccgcatcc tccgtttcca gaactacatg
      841 gtggcactgg ttaacaaatc cctcctgcct ctgcgcttcc gcctgcctgg cctcggggaa
      901 gctgtcttct tcacccgtgg tctcaagtac aactttgagc tgatcctctt ctggggacct
      961 ggctctctgt ttctcaatga atggagcctc aaggccgagt acaaacgtgg ggggcaacgg
     1021 ctagagctgg cccagcgcct cagcaaccgc atcctgtgga ttggcatcgc taacttcctg
     1081 ctgtgccccc tcatcctcat atggcaaatc ctctatgcct tcttcagcta tgctgaggtg
     1141 ctgaagcggg agccgggggc cctgggagca cgctgctggt cactctatgg ccgctgctac
     1201 ctccgccact tcaacgagct ggagcacgag ctgcagtccc gcctcaaccg tggctacaag
     1261 cccgcctcca agtacatgaa ttgcttcttg tcacctcttt tgacactgct ggccaagaat
     1321 ggagccttct tcgctggctc catcctggct gtgcttattg ccctcaccat ttatgacgaa
     1381 gatgtgttgg ctgtggaaca tgtgctgacc accgtcacac tcctgggggt caccgtgacc
     1441 gtgtgcaggt cctttatccc ggaccagcac atggtgttct gccctgagca gctgctccgc
     1501 gtgatcctcg ctcacatcca ctacatgcct gaccactggc agggtaatgc ccaccgctcg
     1561 cagacccggg acgagtttgc ccagctcttc cagtacaagg cagtgttcat tttggaagag
     1621 ttgctgagcc ccattgtcac acccctcatc ctcatcttct gcctgcgccc acgggccctg
     1681 gagattatag acttcttccg aaacttcacc gtggaggtcg ttggtgtggg agatacctgc
     1741 tcctttgctc agatggatgt tcgccagcat ggtcatcccc agtggctatc tgctgggcag
     1801 acagaggcct cagtgtacca gcaagctgag gatggaaaga cagagttgtc actcatgcac
     1861 tttgccatca ccaaccctgg ctggcagcca ccacgtgaga gcacagcctt cctaggcttc
     1921 ctcaaggagc aggttcagcg ggatggagca gctgctagcc tcgcccaagg gggtctgctc
     1981 cctgaaaatg ccctctttac gtctatccag tccttacaat ctgagtctga gcccctgagc
     2041 cttatcgcaa atgtggtagc tggctcatcc tgccggggcc ctccactgcc cagagacctg
     2101 cagggctcca ggcacagggc tgaagtcgcc tctgccctgc gctccttctc cccgctgcaa
     2161 cccgggcagg cgcccacagg ccgggctcac agcaccatga caggctctgg ggtggatgcc
     2221 aggacagcca gctccgggag cagcgtgtgg gaaggacagc tgcagagcct ggtgctgtca
     2281 gaatatgcat ccacagagat gagcctgcat gccctctata tgcaccagct ccacaagcag
     2341 caggcccagg ctgaacctga gcggcatgta tggcaccgcc gggagagtga tgagagtgga
     2401 gaaagcgccc ctgatgaagg gggagagggc gcccgggccc cccagtctat ccctcgctct
     2461 gctagctatc cctgtgcagc accccggcct ggagctcctg agaccactgc cctgcatggg
     2521 ggcttccaga ggcgctacgg tggcatcaca gatcctggca cagtgcccag ggttccctct
     2581 catttctctc ggctgcctct tggagggtgg gcagaagatg ggcagtcggc atcaaggcac
     2641 cctgagcccg tgcccgaaga gggctcggag gatgagctac cccctcaggt gcacaaggta
     2701 tagacaaggc tgagcagggt tcctgtggcc caggatggag gccaccgctg ccctgccatc
     2761 ccgtctgcct gccatgggac ggctcctctg agtgttccct ggccccacgt gtgtggtgtt
     2821 tgtgtgtctg tgcctggcca agggaggtgc caacactggg cttgccacag ccccaggaga
     2881 ggaatttggg gcctaggaac cgagggcaca cgggactcta gcctcatccc caggaccccc
     2941 ttggctcaga gtgtggtgct agaaactggc ccccagccca gccccagtac tgccaccttt
     3001 acacctaccc ctgcaagtcc ccagagggct gcccacgata gaagctgcca agcagggaga
     3061 acctgtgcca actgtggagt ggggaggttg ggcctggacc ctcaacccct gcaaccttcc
     3121 ctagccccct caatagatga gcaggtcagg ctgtggccct tacctcaccc gcagttctcg
     3181 cccagtgctg cagccggctc acctctctcc gcttcttgca catcactggc ctgtgtgtgc
     3241 tgcttgctcc tgttctgttc gcttgctccc gttccgttcg gcttttgctt tgcgttaggg
     3301 tgaagaccct agcgtccagc tcccctcaac gctatatttt gacactaaaa aagaaggttt
     3361 ctaaattgta ggagcaggat ggaaatactt tgctgccctt gccatctttt aggatgggcc
     3421 cccaggagac tgaggtcttc ctgggccctc attgctgctt atcgtacccc ccatcacctg
     3481 cacatgggac agaccgggct ggagggtgac cttggctgtg tgcgtcccag caaaagagct
     3541 ctggcccgca tctcgctgtg ccctgaaggg ggatgaaggg cgatgcctcg cccgaggctt
     3601 tgggctgctg cactgcatgc tgggactgct cctactctct gtcccacccc tcacccagct
     3661 gtggtccggc tttgggagag tggtgaattg cgctgcccga actcggagcg gagcagggta
     3721 gggaccgtgt acagcttgat aacccttaat aaaaagggag tttgaccaga
//
LOCUS       NM_001077199            6699 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens splicing regulatory glutamic acid and lysine rich
            protein 1 (SREK1), transcript variant 1, mRNA.
ACCESSION   NM_001077199
VERSION     NM_001077199.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6699)
  AUTHORS   Chang C, Rajasekaran M, Qiao Y, Dong H, Wang Y, Xia H, Deivasigamani
            A, Wu M, Sekar K, Gao H, Sun M, Niu Y, Li Q, Tao L, Yan Z, Wang M,
            Chen S, Zhao S, Chen D, Li L, Yang F, Gao H, Chen B, Su L, Xu L,
            Chen Y, Seshachalam VP, Chen G, Gunaratne J, Hong W, Shi J, Chen G,
            Grierson DS, Chabot B, Xie T, Hui KM and Chen J.
  TITLE     The aberrant upregulation of exon 10-inclusive SREK1 through SRSF10
            acts as an oncogenic driver in human hepatocellular carcinoma
  JOURNAL   Nat Commun 13 (1), 1363 (2022)
   PUBMED   35296659
  REMARK    GeneRIF: The aberrant upregulation of exon 10-inclusive SREK1
            through SRSF10 acts as an oncogenic driver in human hepatocellular
            carcinoma. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6699)
  AUTHORS   Abudureheman Z, Li L, Zhong X, Xu J, Gong H, Yilamujiang S, Ren J,
            Xie C, Zheng A, Tuerxun D, Abudukadeer A, Aini P, Xu A and Zou X.
  TITLE     The rs74794265 SNP of the SREK1 Gene is Associated with COPD in
            Kashi, China
  JOURNAL   Int J Chron Obstruct Pulmon Dis 16, 2631-2636 (2021)
   PUBMED   34556983
  REMARK    GeneRIF: The rs74794265 SNP of the SREK1 Gene is Associated with
            COPD in Kashi, China. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6699)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   4  (bases 1 to 6699)
  AUTHORS   Hernandez IH, Cabrera JR, Santos-Galindo M, Sanchez-Martin M,
            Dominguez V, Garcia-Escudero R, Perez-Alvarez MJ, Pintado B and
            Lucas JJ.
  TITLE     Pathogenic SREK1 decrease in Huntington's disease lowers TAF1
            mimicking X-linked dystonia parkinsonism
  JOURNAL   Brain 143 (7), 2207-2219 (2020)
   PUBMED   32533168
  REMARK    GeneRIF: Pathogenic SREK1 decrease in Huntington's disease lowers
            TAF1 mimicking X-linked dystonia parkinsonism.
REFERENCE   5  (bases 1 to 6699)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 6699)
  AUTHORS   Heese K, Fujita M, Akatsu H, Yamamoto T, Kosaka K, Nagai Y and
            Sawada T.
  TITLE     The splicing regulatory protein p18SRP is down-regulated in
            Alzheimer's disease brain
  JOURNAL   J Mol Neurosci 24 (2), 269-276 (2004)
   PUBMED   15456940
  REMARK    GeneRIF: p18SRP is a lysine-rich zinc finger domain-containing
            protein that interacts with the serine-arginine-rich splicing
            regulatory protein SRrp86; it is downregulated in brain of Alzheimer
            disease patients.
REFERENCE   7  (bases 1 to 6699)
  AUTHORS   Li J, Hawkins IC, Harvey CD, Jennings JL, Link AJ and Patton JG.
  TITLE     Regulation of alternative splicing by SRrp86 and its interacting
            proteins
  JOURNAL   Mol Cell Biol 23 (21), 7437-7447 (2003)
   PUBMED   14559993
REFERENCE   8  (bases 1 to 6699)
  AUTHORS   Li J, Barnard DC and Patton JG.
  TITLE     A unique glutamic acid-lysine (EK) domain acts as a splicing
            inhibitor
  JOURNAL   J Biol Chem 277 (42), 39485-39492 (2002)
   PUBMED   12183448
  REMARK    GeneRIF: the unique glutamic acid-lysine domain of SRrp86 plays a
            modulatory role controlling serine-arginine domain function
REFERENCE   9  (bases 1 to 6699)
  AUTHORS   Barnard DC, Li J, Peng R and Patton JG.
  TITLE     Regulation of alternative splicing by SRrp86 through coactivation
            and repression of specific SR proteins
  JOURNAL   RNA 8 (4), 526-533 (2002)
   PUBMED   11991645
  REMARK    GeneRIF: SRrp86 can activate SRp20 and repress SC35 in a
            dose-dependent manner both in vitro and in vivo
REFERENCE   10  (bases 1 to 6699)
  AUTHORS   Barnard DC and Patton JG.
  TITLE     Identification and characterization of a novel serine-arginine-rich
            splicing regulatory protein
  JOURNAL   Mol Cell Biol 20 (9), 3049-3057 (2000)
   PUBMED   10757789
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.256286.1,
            SRR1803614.241324.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000334121.11/ ENSP00000334538.6
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD706234.1, BC047322.1,
            BC112343.1 and AC008772.6.
            On Nov 22, 2018 this sequence version replaced NM_001077199.2.
            Summary: This gene encodes a member of a family of
            serine/arginine-rich (SR) splicing proteins containing RNA
            recognition motif (RRM) domains. The encoded protein interacts with
            other SR proteins to modulate splice site selection. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene. [provided by RefSeq, Jul 2012].
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q12.3"
     gene            1..6699
                     /gene="SREK1"
                     /gene_synonym="SFRS12; SRrp508; SRrp86"
                     /note="splicing regulatory glutamic acid and lysine rich
                     protein 1"
                     /db_xref="GeneID:140890"
                     /db_xref="HGNC:HGNC:17882"
                     /db_xref="MIM:609268"
     misc_feature    27..29
                     /gene="SREK1"
                     /gene_synonym="SFRS12; SRrp508; SRrp86"
                     /note="upstream in-frame stop codon"
     CDS             78..1952
                     /gene="SREK1"
                     /gene_synonym="SFRS12; SRrp508; SRrp86"
                     /note="isoform a is encoded by transcript variant 1;
                     splicing factor, arginine/serine-rich 12;
                     serine-arginine-rich splicing regulatory protein 508;
                     serine/arginine-rich-splicing regulatory protein 86;
                     splicing regulatory glutamine/lysine-rich protein 1;
                     splicing regulatory glutamic acid/lysine-rich protein 1"
                     /codon_start=1
                     /product="splicing regulatory glutamine/lysine-rich protein
                     1 isoform a"
                     /protein_id="NP_001070667.1"
                     /db_xref="CCDS:CCDS43323.1"
                     /db_xref="GeneID:140890"
                     /db_xref="HGNC:HGNC:17882"
                     /db_xref="MIM:609268"
                     /translation="MNSGGGFGLGLGFGLTPTSVIQVTNLSSAVTSEQMRTLFSFLGEI
                     EELRLYPPDNAPLAFSSKVCYVKFRDPSSVGVAQHLTNTVFIDRALIVVPCAEGKIPEE
                     SKALSLLAPAPTMTSLMPGAGLLPIPTPNPLTTLGVSLSSLGAIPAAALDPNIATLGEI
                     PQPPLMGNVDPSKIDEIRRTVYVGNLNSQTTTADQLLEFFKQVGEVKFVRMAGDETQPT
                     RFAFVEFADQNSVPRALAFNGVMFGDRPLKINHSNNAIVKPPEMTPQAAAKELEEVMKR
                     VREAQSFISAAIEPESGKSNERKGGRSRSHTRSKSRSSSKSHSRRKRSQSKHRSRSHNR
                     SRSRQKDRRRSKSPHKKRSKSRERRKSRSRSHSRDKRKDTREKIKEKERVKEKDREKER
                     EREKEREKEKERGKNKDRDKEREKDREKDKEKDREREREKEHEKDRDKEKEKEQDKEKE
                     REKDRSKEIDEKRKKDKKSRTPPRSYNASRRSRSSSRERRRRRSRSSSRSPRTSKTIKR
                     KSSRSPSPRSRNKKDKKREKERDHISERRERERSTSMRKSSNDRDGKEKLEKNSTSLKE
                     KEHNKEPDSSVSKEVDDKDAPRTEENKIQHNGNCQLNEENLSTKTEAV"
     regulatory      3946..3951
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SREK1"
                     /gene_synonym="SFRS12; SRrp508; SRrp86"
                     /note="hexamer: AATAAA"
     polyA_site      3972
                     /gene="SREK1"
                     /gene_synonym="SFRS12; SRrp508; SRrp86"
                     /note="major polyA site"
     regulatory      5552..5557
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SREK1"
                     /gene_synonym="SFRS12; SRrp508; SRrp86"
                     /note="hexamer: AATAAA"
     polyA_site      5575
                     /gene="SREK1"
                     /gene_synonym="SFRS12; SRrp508; SRrp86"
     regulatory      6675..6680
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SREK1"
                     /gene_synonym="SFRS12; SRrp508; SRrp86"
                     /note="hexamer: AATAAA"
     polyA_site      6699
                     /gene="SREK1"
                     /gene_synonym="SFRS12; SRrp508; SRrp86"
ORIGIN
        1 gttctccgct ttcccggctc cgtcgctgac gcgtcgtaga cgttggggag cgggaaggca
       61 acggcagcgg gatcgggatg aacagcggcg gcggcttcgg tttgggctta ggcttcggcc
      121 tcacccccac gtcggtgatt caggtgacga atctgtcgtc ggcggtgacc agcgagcaga
      181 tgcggacgct tttttccttc ctaggagaaa tcgaggagct gcggctctac cccccggaca
      241 acgcacctct tgctttttcc tccaaagtat gttatgttaa gtttcgtgat ccatcaagtg
      301 ttggcgtggc ccagcatcta actaacacgg tttttattga cagagctctg atagttgttc
      361 cttgtgcaga aggtaaaatc ccagaggaat ccaaagccct ctctttattg gctcctgctc
      421 caaccatgac aagtctgatg cctggtgcag gattgcttcc aataccgacc ccaaatcctt
      481 tgactactct tggtgtttca cttagcagtt tgggagctat accagcagca gcactagacc
      541 ccaacattgc aacacttgga gagataccac agccaccact tatgggaaac gtggatcctt
      601 ccaaaataga tgaaattagg agaacggttt atgttggaaa tctgaattcc cagacaacga
      661 cagctgatca actacttgaa ttttttaaac aagttggaga agtgaagttt gtgcggatgg
      721 caggtgatga gactcagcca actcggtttg cttttgtgga atttgcagac caaaattctg
      781 taccaagggc ccttgctttt aatggagtta tgtttggaga caggccactg aaaataaatc
      841 actccaacaa tgcaatagta aaaccccctg agatgacacc tcaggctgca gctaaggagt
      901 tagaagaagt aatgaagcga gtacgagaag ctcagtcatt tatctcagca gctattgaac
      961 cagagtctgg aaagagcaat gaaagaaaag gcggtcgatc tcgttcccat actcgctcaa
     1021 aatccaggtc tagctcaaaa tcccattcta gaaggaaaag atcacaatca aaacacagga
     1081 gtagatccca taatagatca cgttcaagac agaaagacag acgtagatct aagagcccac
     1141 ataaaaaacg ctctaaatca agggagagac ggaagtcaag gagtcgttcg cattcacggg
     1201 acaagagaaa agacactcga gaaaagatca aggaaaagga aagagtgaaa gagaaagaca
     1261 gggaaaagga gagagagagg gaaaaggaac gtgaaaaaga aaaggaacgg ggtaaaaaca
     1321 aagaccggga caaggaacgg gaaaaggacc gggaaaaaga caaggaaaag gacagagaga
     1381 gagaacggga aaaagagcat gagaaggatc gagacaaaga gaaggaaaag gaacaggaca
     1441 aagaaaagga acgagaaaaa gacagatcca aagagataga tgaaaaaaga aagaaggata
     1501 aaaaatccag aacaccaccc aggagttaca atgcatcgcg aagatctcgt agttccagca
     1561 gggaaaggcg taggaggagg agcaggagtt cttccagatc gccaagaaca tcaaaaacca
     1621 taaaaaggaa atcttctaga tctccgtccc ccaggagcag aaataagaag gataaaaaga
     1681 gagaaaaaga aagggaccac atcagtgaaa gaagagagag agaacgttca acgtctatga
     1741 gaaagagttc taatgataga gatgggaagg agaagttgga gaagaacagt acttcactta
     1801 aagagaaaga gcacaataaa gaaccagatt caagtgtgag caaagaagta gatgacaagg
     1861 atgcaccaag gactgaggaa aacaaaatac agcacaatgg gaattgtcag ctgaatgaag
     1921 aaaacctctc taccaaaaca gaagcagtat aggaccgaca agtgtacctc tgcactcaat
     1981 gctggaatca aatccaaagc ttttaattct ctcaacaaga tgtaaacagg aaagaaatct
     2041 agttgagcat gaagatagga tctaacagct tttccagttg ttagatgact ttgtggccat
     2101 cttgttattg agtaagaaaa taaagcatgg acatcatgaa aataacagat gttacccaaa
     2161 ctcatcttct aaaatctgtg catttccatg gtggctgaca cacttgtcat gtggtctgtt
     2221 agtgtttgcc aagaaccatt gcaaataaat tgaacatcaa agatccaagt ttgtactatc
     2281 cctaaagact ggagataagc attggaggct cttttaaaaa atgctagtta ctgaattttg
     2341 tattgtttta cttttttttt tatttcaata tatacagttt gatgatgtgc ttgaaattgg
     2401 tgcaaatata tacacaccct tgtaagtgca aagtatgtaa gaagttttaa catttacttc
     2461 acaggacttg tgattgtgtt aaattctcac tattgtgttt tcttttgctc actgtttagg
     2521 acaatttttc tttaaaatag ttttgcagat taaaattgct taaataagtg gattaaaaaa
     2581 ctgacaatgc atgctactgt tctctttcaa aaggaagagc aaccgtgttg aatactaata
     2641 atgatgaatt agtattcagt gtttagaatc attgggacta cccacaaagt gagcatttct
     2701 ttttaaattt tcttgacatt tccaagctta ttatgaataa tattgcagtg tgtcttgtca
     2761 gctgtaggtg gcaaaggtgc ccttataaaa aaggaaactg gcttttcaaa atgggctatg
     2821 ggagcacaag ctgaagcttt agtgccttct acaatgtggt atactgtttt ctagaatttt
     2881 atatgtgcta gtcattctca attcatatgg aatctagatg gatatttcat gcatacccat
     2941 agagaagtgt gtaagtgata tgtcagaaga gcttcttact gatttcacct aaaatgagaa
     3001 ggaagtcctg ttttcaagaa tgacattaga gtcatgcagc tttgggacca tcagttttat
     3061 actgtgataa ttgaaaatga aacatgttct tattttcctt aaattgaaga aaacccttta
     3121 gttgtctaca ttggatggcc ttattacctc tcaatcatct tttcataaat gatgtgcaga
     3181 aattgtactt aaggacttag gagtatatgg gaggttattg gttttatgtt taaggatacg
     3241 tttacttgag tttaagatac aggtcatcca tcattcttag gctcactttt tacagaaagt
     3301 atgcaaatag taaagtgaca gcactgctaa tgtttttccc cagtactata acttgtggtt
     3361 tctgaactca ttattgttgt atttccaaaa aagtaatacc ttttaattag tgtattaaaa
     3421 gttaagtata attattttaa tgcaatctaa tacaatcaga ttactcagtt gccttacctc
     3481 atgggaagag ttactttttt agatctaaaa agctgaatag catgttagtt acttggtttc
     3541 aacttgagtt ttcttttaat gttaataaga ttgaaacttt agtatttagt ggggaatgga
     3601 aagagttgcc cttgttgcaa gtaatgaagc ctgatttgat tatgaagctg cttaatcact
     3661 cttcatgtgt tcagaattac tgtttttttt gtttgttttt cctttttgtc actgtgtaca
     3721 ttaaaatttt ggaagatgct ttactatgta aagtatagat ggtcatttta atcattcagc
     3781 cacatacggt tggctggtaa acagcttatt ctgatacaag aatgcttggg tgcatatgga
     3841 aagattgtga aagagtgtgt cttgcatcaa cagctgtctt atttatgata tataagtaga
     3901 aatagagcaa atgttggaat ctgttatttt tagtaccatg tctttaataa agctaagtat
     3961 tttagaggaa aatgtttgtt tatgcatttc aaaaaagcat tttagtttta tcctgctcat
     4021 tttagttgtc atagagattg ttgtgacgtg gagagtgcat gtttgtgtgg tgtctataaa
     4081 acaagtcatt taaagtatga gtgttttctt gtactctgga cctattacat gtttctttat
     4141 gttggtaatt aacatttaat ttggttcttg ctgctaatta ttttctctgc tgatatttat
     4201 taagctttaa aataatcgta ctataatctt gaaacactga tttgtaaaaa ctaagaatga
     4261 gtaggaatac aagagatctg gaggaacaaa tcagattgtt attagggttt gacttttttt
     4321 ttacatgggc ttatggaagc aaggcattct agggtctaga gggatgtgtg tgtgtgcttg
     4381 tgtgtccatg tgtgcgcatg cgcacgtgtg tatctgtttg agacatactt tctctgttca
     4441 cttaaaagag ctcatgtttt catttgttta ttcttttctt tcagggtatt ttgttttttt
     4501 ctttaagact tcttttttta aatcccaggt agatgttgtc agataaactt gaggtaaggc
     4561 caagaagaca gacattttat gcttcatact ttctgtaatt atcttttgta gcttgattac
     4621 atagagtacc ctctcttcct taagttgtag ttgctattta tcattgtaga caaattctgt
     4681 tgcctttcag caacgtatgc tgaactagta tcataagatg gtgcatcagt tcataagcta
     4741 gtgcataagt tttgtgtcaa aacttttaaa tcctgaagtt ctgcagttat catcttagtt
     4801 attttctatc taattagctt ataattgcaa acactagtca gcttgtgatc tctgtgtttc
     4861 aagttctttt cttcacgagg ttcagtacct gctatgttga tctttggcag tgccagaggc
     4921 ttaaattttg acctgctcaa ttaaaaataa acactggcgt ttataatgaa aaggtttttt
     4981 tgtcgggggg gggggggtca agagaattta ttttgtgata gtaataattt tcaagacctt
     5041 cagtcattcc tatgtctatg ttgctatctt tattttaaaa cttagaaccc tgatctaact
     5101 cccttctcaa gtgaagatac tgtgtagatt caagaattat aatgtagagt aataggcctt
     5161 taagtttttt tttaatctgt tagaaataaa gagcatgatt taattattgt tgaattaaca
     5221 attaaaatga atccctttgg agggatggca ttgaataact tataatttca gtgaatcatt
     5281 tacgttttca ttggaagaca gtatctgatt tcaactggtg cgttacgaag tagagccatt
     5341 cccacaaagt aaatgtgcag tgcccatgtt tcttgtgttt aaatattttt tattttcact
     5401 acatatatat tattttctca tgtttattta ctaatgtaat tttcacttaa aattagatgt
     5461 ttattttcaa attttaaaag ctagtgctct taaaagagct aaattatatt tctggaagca
     5521 ggagtttagt ataaatgtaa taaaatttta aaataaaatt gacttcccta cttaatcttg
     5581 ggtttgtggg tgagtttgtt tttagtacac tcttattggt ggttttgcct gaagagtaat
     5641 acattattat tattactttt ctttttgaga cagggtctca ctctgtcact caggctggag
     5701 tgcagtgaca cgatcatggc tcactgcaat cttgaccttt ctcggcatgg atgatcctct
     5761 cacctcagcc tcttgaatag ctgggaccac agacatgtgc caccaagccc agttaatttt
     5821 agaatttttt ttgtagagac aggatcttgc catgttgcct agactggtct caaactcctg
     5881 ggctcaaaca atctgtctgc ctcagccttc taaagtgctg agattacagg tgtgaggtac
     5941 tgcacctggc aatacgttat tttaaaagta aacgctaagc catttatgac tttggttata
     6001 ttcagtcagt tggatttagt aactaataac tagctttctt ccattctaag gtacttttat
     6061 agtttctagc aattagtttg ttacaattag cttatatcag atataacagt tcttaatata
     6121 atgtttataa aaggttttaa gtctgttgcc tgatttttaa atttatatct agttaacatt
     6181 ttaattttaa aattgccaac ttttgggaga tttcacatat tttacctcta tattttattt
     6241 ttccaggatt ggtatggagg agtagtacct tctattcttg gtttattttt atttgctaga
     6301 cataatttct taactacata tgtaagtata aattcataaa aatcacactg aaagaatagg
     6361 ttgatttcaa ccattttgag ggtactggta ggtaacacac tgttggggaa taaactaaag
     6421 aatttctgat ttctacaata gatttaagta tgaaatttga gtatactgtg tagctgtgta
     6481 gatcaactta atgcttaaaa aattacctcc ttaatgatta gattaataga acagtgttag
     6541 attatcaagg gaagagtttg gaatgtaaac ataaacatgc tgcataggtg gtggttattt
     6601 gtgagtagga ctacttttaa atggtactag taaagattta tcaaacaatg ctgctattat
     6661 gttgctatat ttttaataaa atgaaaatct taaaatctt
//
LOCUS       NM_001077207            4298 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens SEC31 homolog A, COPII coat complex component (SEC31A),
            transcript variant 5, mRNA.
ACCESSION   NM_001077207
VERSION     NM_001077207.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4298)
  AUTHORS   Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman
            EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R,
            Abdu U, Flusser H and Birk OS.
  TITLE     SEC31A mutation affects ER homeostasis, causing a neurological
            syndrome
  JOURNAL   J Med Genet 56 (3), 139-148 (2019)
   PUBMED   30464055
  REMARK    GeneRIF: We demonstrate through human and Drosophila genetic and in
            vitro molecular studies, that a severe neurological syndrome is
            caused by a null mutation in SEC31A, reducing cell viability through
            enhanced ER-stress response, in line with SEC31A's role in the
            COP-II complex.
REFERENCE   2  (bases 1 to 4298)
  AUTHORS   Kawaguchi K, Endo A, Fukushima T, Madoka Y, Tanaka T and Komada M.
  TITLE     Ubiquitin-specific protease 8 deubiquitinates Sec31A and decreases
            large COPII carriers and collagen IV secretion
  JOURNAL   Biochem Biophys Res Commun 499 (3), 635-641 (2018)
   PUBMED   29604273
  REMARK    GeneRIF: USP8 deubiquitinates Sec31A and inhibits the formation of
            large COPII carriers, thereby suppressing collagen IV secretion.
REFERENCE   3  (bases 1 to 4298)
  AUTHORS   Maeda M, Katada T and Saito K.
  TITLE     TANGO1 recruits Sec16 to coordinately organize ER exit sites for
            efficient secretion
  JOURNAL   J Cell Biol 216 (6), 1731-1743 (2017)
   PUBMED   28442536
REFERENCE   4  (bases 1 to 4298)
  AUTHORS   McGourty CA, Akopian D, Walsh C, Gorur A, Werner A, Schekman R,
            Bautista D and Rape M.
  TITLE     Regulation of the CUL3 Ubiquitin Ligase by a Calcium-Dependent
            Co-adaptor
  JOURNAL   Cell 167 (2), 525-538 (2016)
   PUBMED   27716508
REFERENCE   5  (bases 1 to 4298)
  AUTHORS   Jin L, Pahuja KB, Wickliffe KE, Gorur A, Baumgartel C, Schekman R
            and Rape M.
  TITLE     Ubiquitin-dependent regulation of COPII coat size and function
  JOURNAL   Nature 482 (7386), 495-500 (2012)
   PUBMED   22358839
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4298)
  AUTHORS   Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW,
            Bouffard G, Smith D and Peterson K.
  TITLE     Expressed sequence tag analysis of human RPE/choroid for the NEIBank
            Project: over 6000 non-redundant transcripts, novel genes and splice
            variants
  JOURNAL   Mol Vis 8, 205-220 (2002)
   PUBMED   12107410
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 4298)
  AUTHORS   Kim JH, Hong JA, Pih KT and Hwang I.
  TITLE     Identification and isolation of differentially expressed genes in
            osmotically stressed human oral keratinocytes
  JOURNAL   Arch Oral Biol 46 (4), 335-341 (2001)
   PUBMED   11269867
REFERENCE   8  (bases 1 to 4298)
  AUTHORS   Kirchhausen T.
  TITLE     Three ways to make a vesicle
  JOURNAL   Nat Rev Mol Cell Biol 1 (3), 187-198 (2000)
   PUBMED   11252894
  REMARK    Review article Erratum:[Nat Rev Mol Cell Biol 2001 Mar;2(3):216]
REFERENCE   9  (bases 1 to 4298)
  AUTHORS   Tang BL, Zhang T, Low DY, Wong ET, Horstmann H and Hong W.
  TITLE     Mammalian homologues of yeast sec31p. An ubiquitously expressed form
            is localized to endoplasmic reticulum (ER) exit sites and is
            essential for ER-Golgi transport
  JOURNAL   J Biol Chem 275 (18), 13597-13604 (2000)
   PUBMED   10788476
REFERENCE   10  (bases 1 to 4298)
  AUTHORS   Lippincott-Schwartz J, Roberts TH and Hirschberg K.
  TITLE     Secretory protein trafficking and organelle dynamics in living cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.119071.1,
            SRR1660805.167194.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000395310.7/ ENSP00000378721.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021105.13 and AC108469.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001077207.3.
            Summary: The protein encoded by this gene shares similarity with
            the yeast Sec31 protein, and is a component of the outer layer of
            the coat protein complex II (COPII). The encoded protein is
            involved in vesicle budding from the endoplasmic reticulum (ER) and
            contains multiple WD repeats near the N-terminus and a proline-rich
            region in the C-terminal half. It associates with the protein
            encoded by the SEC13 homolog, nuclear pore and COPII coat complex
            component (SEC13), and is required for ER-Golgi transport.
            Monoubiquitylation of this protein by CUL3-KLHL12 was found to
            regulate the size of COPII coats to accommodate unusually shaped
            cargo. Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Dec 2015].
            Transcript Variant: This variant (5) encodes the longest isoform
            (1). Both variants 5 and 10 encode the same protein.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4298
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.22"
     gene            1..4298
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="SEC31 homolog A, COPII coat complex component"
                     /db_xref="GeneID:22872"
                     /db_xref="HGNC:HGNC:17052"
                     /db_xref="MIM:610257"
     misc_feature    32..34
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="upstream in-frame stop codon"
     CDS             71..3733
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="isoform 1 is encoded by transcript variant 5; yeast
                     Sec31p homolog; protein transport protein Sec31A; web1-like
                     protein; SEC31-related protein A; SEC31-like protein 1;
                     SEC31 homolog A, COPII coating complex component"
                     /codon_start=1
                     /product="protein transport protein Sec31A isoform 1"
                     /protein_id="NP_001070675.1"
                     /db_xref="CCDS:CCDS3596.1"
                     /db_xref="GeneID:22872"
                     /db_xref="HGNC:HGNC:17052"
                     /db_xref="MIM:610257"
                     /translation="MKLKEVDRTAMQAWSPAQNHPIYLATGTSAQQLDATFSTNASLEI
                     FELDLSDPSLDMKSCATFSSSHRYHKLIWGPYKMDSKGDVSGVLIAGGENGNIILYDPS
                     KIIAGDKEVVIAQNDKHTGPVRALDVNIFQTNLVASGANESEIYIWDLNNFATPMTPGA
                     KTQPPEDISCIAWNRQVQHILASASPSGRATVWDLRKNEPIIKVSDHSNRMHCSGLAWH
                     PDVATQMVLASEDDRLPVIQMWDLRFASSPLRVLENHARGILAIAWSMADPELLLSCGK
                     DAKILCSNPNTGEVLYELPTNTQWCFDIQWCPRNPAVLSAASFDGRISVYSIMGGSTDG
                     LRQKQVDKLSSSFGNLDPFGTGQPLPPLQIPQQTAQHSIVLPLKKPPKWIRRPVGASFS
                     FGGKLVTFENVRMPSHQGAEQQQQQHHVFISQVVTEKEFLSRSDQLQQAVQSQGFINYC
                     QKKIDASQTEFEKNVWSFLKVNFEDDSRGKYLELLGYRKEDLGKKIALALNKVDGANVA
                     LKDSDQVAQSDGEESPAAEEQLLGEHIKEEKEESEFLPSSGGTFNISVSGDIDGLITQA
                     LLTGNFESAVDLCLHDNRMADAIILAIAGGQELLARTQKKYFAKSQSKITRLITAVVMK
                     NWKEIVESCDLKNWREALAAVLTYAKPDEFSALCDLLGTRLENEGDSLLQTQACLCYIC
                     AGNVEKLVACWTKAQDGSHPLSLQDLIEKVVILRKAVQLTQAMDTSTVGVLLAAKMSQY
                     ANLLAAQGSIAAALAFLPDNTNQPNIMQLRDRLCRAQGEPVAGHESPKIPYEKQQLPKG
                     RPGPVAGHHQMPRVQTQQYYPHGENPPPPGFIMHGNVNPNAAGQLPTSPGHMHTQVPPY
                     PQPQPYQPAQPYPFGTGGSAMYRPQQPVAPPTSNAYPNTPYISSASSYTGQSQLYAAQH
                     QASSPTSSPATSFPPPPSSGASFQHGGPGAPPSSSAYALPPGTTGTLPAASELPASQRT
                     GPQNGWNDPPALNRVPKKKKMPENFMPPVPITSPIMNPLGDPQSQMLQQQPSAPVPLSS
                     QSSFPQPHLPGGQPFHGVQQPLGQTGMPPSFSKPNIEGAPGAPIGNTFQHVQSLPTKKI
                     TKKPIPDEHLILKTTFEDLIQRCLSSATDPQTKRKLDDASKRLEFLYDKLREQTLSPTI
                     TSGLHNIARSIETRNYSEGLTMHTHIVSTSNFSETSAFMPVLKVVLTQANKLGV"
     misc_feature    80..211
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94979.3);
                     Region: WD 1"
     misc_feature    272..403
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94979.3);
                     Region: WD 2"
     misc_feature    428..550
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94979.3);
                     Region: WD 3"
     misc_feature    551..1483
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94979.3);
                     Region: Interaction with SEC13.
                     /evidence=ECO:0000269|PubMed:16957052"
     misc_feature    1649..1651
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94979.3); phosphorylation site"
     misc_feature    1664..1666
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (O94979.3); phosphorylation site"
     misc_feature    2441..2794
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94979.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2465..2467
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O94979.3);
                     phosphorylation site"
     misc_feature    2468..3409
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94979.3);
                     Region: Interaction with PDCD6.
                     /evidence=ECO:0000269|PubMed:16957052"
     misc_feature    2594..2614
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94979.3);
                     Region: ALG-2-binding site motif-2 (ABS-2)"
     misc_feature    2840..3358
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="propagated from UniProtKB/Swiss-Prot (O94979.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3551..3553
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O94979.3); phosphorylation site"
     misc_feature    3557..3559
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O94979.3);
                     phosphorylation site"
     regulatory      4128..4133
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="hexamer: ATTAAA"
     polyA_site      4146
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="major polyA site"
     regulatory      4268..4273
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
                     /note="hexamer: AATAAA"
     polyA_site      4298
                     /gene="SEC31A"
                     /gene_synonym="ABP125; ABP130; HPBKS; HSPC275; HSPC334;
                     NEDSOSB; SEC31L1"
ORIGIN
        1 gaatgctggg agagtccgac gagcgctgca ctaacgcagg atccggctgc cgaaggtcct
       61 cgccagcagg atgaagttaa aggaagtaga tcgtacagcc atgcaggcat ggagccctgc
      121 ccagaatcac cccatttacc tagcaacagg aacatctgct cagcaattgg atgcaacatt
      181 tagtacgaat gcttcccttg agatatttga attagacctc tctgatccat ccttggatat
      241 gaaatcttgt gccacattct cctcttctca caggtaccac aagttgattt gggggcctta
      301 taaaatggat tccaaaggag atgtctctgg agttctgatt gcaggtggtg aaaatggaaa
      361 tattattctc tatgatcctt ctaaaattat agctggagac aaggaagttg tgattgccca
      421 gaatgacaag catactggcc cagtgagagc cttggatgtg aacattttcc agactaatct
      481 ggtagcttct ggtgctaatg aatctgaaat ctacatatgg gatctaaata attttgcaac
      541 cccaatgaca ccaggagcca aaacacagcc gccagaagat atcagctgca ttgcatggaa
      601 cagacaagtt cagcatattt tagcatcagc cagtcccagt ggccgggcca ctgtatggga
      661 tcttagaaaa aatgagccaa tcatcaaagt cagtgaccat agtaacagaa tgcattgttc
      721 tgggttggca tggcatcctg atgttgctac tcagatggtc cttgcctccg aggatgaccg
      781 gttaccagtg atccagatgt gggatcttcg atttgcttcc tctccacttc gtgtcctgga
      841 aaaccatgcc agggggattt tggcaattgc ttggagcatg gcagatcctg aattgttact
      901 gagctgtgga aaagatgcta agattctctg ctccaatcca aacacaggag aggtgttata
      961 tgaacttccc accaacacac agtggtgctt cgatattcag tggtgtcccc gaaatcctgc
     1021 tgtcttatca gctgcttcgt ttgatgggcg tatcagtgtt tattctatca tgggaggtag
     1081 cacagatggt ttaagacaga aacaagttga caagctttca tcatcttttg ggaatcttga
     1141 tccctttggc acaggacagc cccttcctcc gttacaaatt ccacagcaga ctgctcagca
     1201 tagtatagtg ctgcctctga agaagccgcc caagtggatt cgaaggcctg ttggtgcttc
     1261 tttttcattt ggaggcaaac tggttacgtt tgagaatgtc agaatgcctt ctcatcaggg
     1321 agctgagcag cagcagcagc agcaccatgt gttcattagt caggttgtaa cagaaaagga
     1381 gttcctcagc cgatcagacc aacttcagca ggctgtgcag tcacaaggat ttatcaatta
     1441 ttgccaaaaa aaaattgatg cttctcagac tgaatttgag aaaaatgtgt ggtccttttt
     1501 gaaggtaaac tttgaggatg attctcgtgg aaaatacctt gaacttctag gatacagaaa
     1561 agaagatcta ggaaagaaga ttgctttggc cttgaacaaa gtggatggag ccaatgtggc
     1621 tcttaaagac tctgaccaag tagcacagag tgatggggag gagagccctg ctgctgaaga
     1681 gcagctcttg ggagagcaca ttaaagagga aaaagaagaa tctgaatttc taccctcatc
     1741 tggaggaaca tttaatatct ctgtcagtgg ggacattgat ggtttaatta ctcaggcttt
     1801 gctgacgggc aattttgaga gtgctgttga cctttgttta catgataacc gcatggccga
     1861 tgccattata ttggccatag caggtggaca agaactcttg gctcgaaccc agaaaaaata
     1921 cttcgcaaaa tcccaaagca aaattaccag gctcatcact gcagtggtga tgaagaactg
     1981 gaaagagatt gttgagtctt gtgatcttaa aaattggaga gaggctttag ctgcagtatt
     2041 gacttatgca aagccggatg aattttcagc cctttgtgat cttttgggaa ccaggcttga
     2101 aaatgaagga gatagcctcc tgcagactca agcatgtctc tgctatattt gtgcagggaa
     2161 tgtagagaaa ttagttgcat gttggactaa agctcaagat ggaagccacc ctttgtcact
     2221 tcaggatctg attgagaaag ttgtcatcct gcgaaaagct gtgcaactca ctcaagccat
     2281 ggacactagt actgtaggag ttctcttggc tgcgaagatg agtcagtatg ccaatttgtt
     2341 ggcagctcag ggcagtattg ctgcagcctt ggcttttctt cctgacaaca ccaaccagcc
     2401 aaatatcatg cagcttcgtg acagactttg tagagcacaa ggagagcctg tagcaggaca
     2461 tgaatcacct aaaattccgt acgagaaaca gcagctcccc aagggcaggc ctggaccagt
     2521 tgctggccac caccagatgc caagagttca aactcaacaa tattatcccc atggagaaaa
     2581 tcctccacct ccgggtttca taatgcatgg aaatgttaat ccaaatgctg ctggtcagct
     2641 tcccacatct ccaggtcata tgcacaccca ggtaccacct tatccacagc cacagcctta
     2701 tcaaccagcc cagccgtatc ccttcggaac aggggggtca gcaatgtatc gacctcagca
     2761 gcctgttgct cctcctactt caaacgctta ccctaacacc ccttacatat cttctgcttc
     2821 ttcctatact gggcagtctc agctgtacgc agcacagcac caggcctctt cacctacctc
     2881 cagccctgct acttctttcc ctcctccccc ttcctctgga gcatccttcc agcatggcgg
     2941 accaggagct ccaccatcat cttcagctta tgcactgcct cctggaacaa caggtacact
     3001 gcctgctgcc agtgagctgc ctgcgtccca aagaacaggt cctcagaatg gttggaatga
     3061 ccctccagct ttgaacagag tacccaaaaa gaagaagatg cctgaaaact tcatgcctcc
     3121 tgttcccatc acatcaccaa tcatgaaccc gttgggtgac ccccagtcac aaatgctgca
     3181 gcaacagcct tcagctccag taccactgtc aagccagtct tcattcccac agccacatct
     3241 tccaggtggc cagcccttcc atggcgtaca gcaacctctt ggtcaaacag gcatgccacc
     3301 atctttttca aagcccaata ttgaaggtgc cccaggggct cctattggaa ataccttcca
     3361 gcatgtgcag tctttgccaa caaaaaaaat taccaagaaa cctattccag atgagcacct
     3421 cattctaaag accacatttg aggatcttat tcagcgctgc ctttcttcag caacagaccc
     3481 tcaaaccaag aggaagctag atgatgccag caaacgtttg gagtttctgt atgataaact
     3541 tagggaacag acactttcac caacaatcac cagtggttta cacaacattg caaggagcat
     3601 tgaaactcga aactactcag aaggattgac catgcatacc cacatagtta gcaccagcaa
     3661 cttcagtgag acctctgctt tcatgccagt tctcaaagtt gttctcaccc aggccaataa
     3721 gctgggtgtc taaaaggaca gcttctcttc cactcaatat tgccattttt ccaaagaaac
     3781 atgttaaaaa aaaaaattat aagacatgga ctagtcctca ttagcatgtt tgcatagcaa
     3841 ccagtcaaga gcatttacac tatttctgct gatatactca ccttagaact gctcagaacc
     3901 ctggtgcttt atttttgttt taatcttttg ttgccagtga tgattttcct attctgcaaa
     3961 tagtgtattt cctggattac acatagtatg gtttcctgaa gtattctgat aaatgtgttt
     4021 tttaaaacct caatatactt tttagaaaag gagcatctgg ttatgcataa agcagagcta
     4081 aaactaaatt tctttcatgt cctccctact tcctcagtgt caatcagatt aaagtgtgta
     4141 atcctatttt atgtgtgtat agtctttttt gaaacagctg cttaaaattt agtttatttt
     4201 ttgtgtctta ggattcctga gtaaataact acatctacaa actgctacat gggttttagc
     4261 agatattaat aaaaatggga tcactggctt taactata
//
LOCUS       NM_001077242            1741 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens DEP domain containing 7 (DEPDC7), transcript variant 1,
            mRNA.
ACCESSION   NM_001077242
VERSION     NM_001077242.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1741)
  AUTHORS   Liao Z, Wang X, Wang X, Li L and Lin D.
  TITLE     DEPDC7 inhibits cell proliferation, migration and invasion in
            hepatoma cells
  JOURNAL   Oncol Lett 14 (6), 7332-7338 (2017)
   PUBMED   29344171
REFERENCE   2  (bases 1 to 1741)
  AUTHORS   Liao Z, Wang X, Lin D and Zou Q.
  TITLE     Construction and Identification of the RNAi Recombinant Lentiviral
            Vector Targeting Human DEPDC7 Gene
  JOURNAL   Interdiscip Sci 9 (3), 350-356 (2017)
   PUBMED   27016254
  REMARK    GeneRIF: RNA interference (RNAi) recombinant lentiviral vector
            particle targeting DEPDC7 was constructed in order to knockdown its
            gene expression in human hepatocellular carcinoma cell line HepG2.
REFERENCE   3  (bases 1 to 1741)
  AUTHORS   Cordova-Palomera A, Fatjo-Vilas M, Palma-Gudiel H, Blasco-Fontecilla
            H, Kebir O and Fananas L.
  TITLE     Further evidence of DEPDC7 DNA hypomethylation in depression: A
            study in adult twins
  JOURNAL   Eur Psychiatry 30 (6), 715-718 (2015)
   PUBMED   25952135
  REMARK    GeneRIF: DEPDC7 hypomethylation in peripheral blood DNA may be
            associated with recent depressive symptomatology.
REFERENCE   4  (bases 1 to 1741)
  AUTHORS   D'Andrea EL, Ferravante A, Scudiero I, Zotti T, Reale C, Pizzulo M,
            De La Motte LR, De Maio C, Mazzone P, Telesio G, Vito P and Stilo R.
  TITLE     The Dishevelled, EGL-10 and pleckstrin (DEP) domain-containing
            protein DEPDC7 binds to CARMA2 and CARMA3 proteins, and regulates
            NF-kappaB activation
  JOURNAL   PLoS One 9 (12), e116062 (2014)
   PUBMED   25541973
  REMARK    GeneRIF: The study identified the DEP domain-containing protein
            DEPDC7 as cellular binding partner of CARMA2 and CARMA3 proteins.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1741)
  AUTHORS   Gawin B, Niederfuhr A, Schumacher N, Hummerich H, Little PF and
            Gessler M.
  TITLE     A 7.5 Mb sequence-ready PAC contig and gene expression map of human
            chromosome 11p13-p14.1
  JOURNAL   Genome Res 9 (11), 1074-1086 (1999)
   PUBMED   10568747
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.391689.1, BC030970.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1966682,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000241051.8/ ENSP00000241051.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC030970.1 and AJ245600.1.
            On Nov 22, 2018 this sequence version replaced NM_001077242.1.
            Transcript Variant: This variant (1) represents the more frequently
            occurring transcript and it encodes the longer protein (isoform 1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1741
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..1741
                     /gene="DEPDC7"
                     /gene_synonym="dJ85M6.4; TR2"
                     /note="DEP domain containing 7"
                     /db_xref="GeneID:91614"
                     /db_xref="HGNC:HGNC:29899"
                     /db_xref="MIM:612294"
     CDS             79..1614
                     /gene="DEPDC7"
                     /gene_synonym="dJ85M6.4; TR2"
                     /note="isoform 1 is encoded by transcript variant 1; DEP
                     domain-containing protein 7; novel 58.3 KDA protein;
                     dJ85M6.4 (novel 58.3 KDA protein)"
                     /codon_start=1
                     /product="DEP domain-containing protein 7 isoform 1"
                     /protein_id="NP_001070710.1"
                     /db_xref="CCDS:CCDS41632.1"
                     /db_xref="GeneID:91614"
                     /db_xref="HGNC:HGNC:29899"
                     /db_xref="MIM:612294"
                     /translation="MATVQEKAAALNLSALHSPAHRPPGFSVAQKPFGATYVWSSIINT
                     LQTQVEVKKRRHRLKRHNDCFVGSEAVDVIFSHLIQNKYFGDVDIPRAKVVRVCQALMD
                     YKVFEAVPTKVFGKDKKPTFEDSSCSLYRFTTIPNQDSQLGKENKLYSPARYADALFKS
                     SDIRSASLEDLWENLSLKPANSPHVNISATLSPQVINEVWQEETIGRLLQLVDLPLLDS
                     LLKQQEAVPKIPQPKRQSTMVNSSNYLDRGILKAYSDSQEDEWLSAAIDCLEYLPDQMV
                     VEISRSFPEQPDRTDLVKELLFDAIGRYYSSREPLLNHLSDVHNGIAELLVNGKTEIAL
                     EATQLLLKLLDFQNREEFRRLLYFMAVAANPSEFKLQKESDNRMVVKRIFSKAIVDNKN
                     LSKGKTDLLVLFLMDHQKDVFKIPGTLHKIVSVKLMAIQNGRDPNRDAGYIYCQRIDQR
                     DYSNNTEKTTKDELLNLLKTLDEDSKLSAKEKKKLLGQFYKCHPDIFIEHFGD"
     regulatory      1721..1726
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DEPDC7"
                     /gene_synonym="dJ85M6.4; TR2"
                     /note="hexamer: AATAAA"
     polyA_site      1741
                     /gene="DEPDC7"
                     /gene_synonym="dJ85M6.4; TR2"
                     /note="major polyA site"
ORIGIN
        1 acagttaaca gacgggcgct cagggagcta gggagctgtg aagctgctgg aggagttggc
       61 gtccggggag caagggccat ggccaccgtg caggagaagg ctgctgcgct gaacctctcg
      121 gctctccaca gccccgcgca caggcctccg ggtttcagtg tagctcagaa gccatttgga
      181 gccacgtatg tatggagcag catcataaac actcttcaaa cacaagtgga agtgaaaaaa
      241 cgaaggcacc gtttaaaacg acataatgac tgctttgttg gttcagaagc tgtggatgtc
      301 attttttctc acctaattca gaataagtat tttggtgatg tagatattcc tcgagccaaa
      361 gtggtgagag tgtgtcaagc gcttatggac tacaaagtat ttgaagcagt tccaaccaaa
      421 gtctttggaa aagacaaaaa acctacattt gaagatagta gttgcagcct ttatagattc
      481 accacaatac ctaaccaaga cagtcagtta ggcaaagaga acaaactata ttcacctgcc
      541 aggtatgcag atgcattatt taagtcatcc gatatcagat cagccagttt agaggacctg
      601 tgggaaaatc tgagtttaaa gcctgccaac tcccctcatg taaatatctc tgcaaccttg
      661 tctccacaag ttattaatga agtgtggcaa gaagaaacaa ttgggcgtct actacaactt
      721 gtagaccttc cacttcttga ctccttactg aaacagcaag aggctgtacc taaaattcct
      781 caacctaaga ggcagtccac catggtcaac agcagtaact atctggatcg agggattctc
      841 aaggcttata gtgactctca ggaagatgag tggctctcgg cagcaattga ctgtttagaa
      901 taccttccag accaaatggt ggtggaaata agcagaagct ttcctgagca accagaccga
      961 acagacttag tgaaagaact tctgtttgat gccattggca gatattacag tagtagggaa
     1021 cctctgttaa atcacttatc tgacgttcat aatggaattg cagaactctt agtgaatggg
     1081 aagacggaaa tagctttaga agctacccag ctccttctaa agcttttaga tttccaaaat
     1141 agagaagaat ttagaagact actgtatttc atggctgttg cagcaaatcc ttctgagttt
     1201 aaattacaga aagaaagtga caaccgaatg gttgtgaaaa ggatattctc aaaagctatt
     1261 gttgacaata aaaatttatc caaaggcaaa acagatcttc tggtactctt tttaatggat
     1321 catcagaaag atgtttttaa gattcctgga actctacata aaattgtaag tgttaagctt
     1381 atggccatac agaacggaag agatccaaat agagatgcag gatatattta ttgccagaga
     1441 attgatcaac gtgactattc caacaataca gagaagacaa ccaaagatga gctgttgaat
     1501 ttactaaaaa ctcttgatga ggattcaaaa ctttctgcca aagagaagaa aaaattgcta
     1561 ggtcaattct ataagtgtca cccagacatc tttattgagc attttggaga ctgagttttt
     1621 aatatctgta tataagttgt gtattttaag aataaattat gtatcctaaa tatccaatca
     1681 catttgtaag cgtggaagct ctaaatttga aactgtactt aataaaaatt tttttgtata
     1741 a
//
LOCUS       NM_001077263            3397 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens transmembrane serine protease 13 (TMPRSS13), transcript
            variant 1, mRNA.
ACCESSION   NM_001077263
VERSION     NM_001077263.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3397)
  AUTHORS   Gatineau J, Nidercorne C, Dupont A, Puiffe ML, Cohen JL,
            Molinier-Frenkel V, Niedergang F and Castellano F.
  TITLE     IL4I1 binds to TMPRSS13 and competes with SARS-CoV-2 spike
  JOURNAL   Front Immunol 13, 982839 (2022)
   PUBMED   36131918
  REMARK    GeneRIF: IL4I1 binds to TMPRSS13 and competes with SARS-CoV-2 spike.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3397)
  AUTHORS   Martin CE, Murray AS, Sala-Hamrick KE, Mackinder JR, Harrison EC,
            Lundgren JG, Varela FA and List K.
  TITLE     Posttranslational modifications of serine protease TMPRSS13 regulate
            zymogen activation, proteolytic activity, and cell surface
            localization
  JOURNAL   J Biol Chem 297 (4), 101227 (2021)
   PUBMED   34562451
  REMARK    GeneRIF: Posttranslational modifications of serine protease TMPRSS13
            regulate zymogen activation, proteolytic activity, and cell surface
            localization.
REFERENCE   3  (bases 1 to 3397)
  AUTHORS   Ohno A, Maita N, Tabata T, Nagano H, Arita K, Ariyoshi M, Uchida T,
            Nakao R, Ulla A, Sugiura K, Kishimoto K, Teshima-Kondo S, Okumura Y
            and Nikawa T.
  TITLE     Crystal structure of inhibitor-bound human MSPL that can activate
            high pathogenic avian influenza
  JOURNAL   Life Sci Alliance 4 (6), e202000849 (2021)
   PUBMED   33820827
  REMARK    GeneRIF: Crystal structure of inhibitor-bound human MSPL that can
            activate high pathogenic avian influenza. Publication Status:
            Online-Only
REFERENCE   4  (bases 1 to 3397)
  AUTHORS   Kishimoto M, Uemura K, Sanaki T, Sato A, Hall WW, Kariwa H, Orba Y,
            Sawa H and Sasaki M.
  TITLE     TMPRSS11D and TMPRSS13 Activate the SARS-CoV-2 Spike Protein
  JOURNAL   Viruses 13 (3), 384 (2021)
   PUBMED   33671076
  REMARK    GeneRIF: TMPRSS11D and TMPRSS13 Activate the SARS-CoV-2 Spike
            Protein. Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3397)
  AUTHORS   Murray AS, Hyland TE, Sala-Hamrick KE, Mackinder JR, Martin CE,
            Tanabe LM, Varela FA and List K.
  TITLE     The cell-surface anchored serine protease TMPRSS13 promotes breast
            cancer progression and resistance to chemotherapy
  JOURNAL   Oncogene 39 (41), 6421-6436 (2020)
   PUBMED   32868877
  REMARK    GeneRIF: The cell-surface anchored serine protease TMPRSS13 promotes
            breast cancer progression and resistance to chemotherapy.
REFERENCE   6  (bases 1 to 3397)
  AUTHORS   Bastos-Amador P, Royo F, Gonzalez E, Conde-Vancells J, Palomo-Diez
            L, Borras FE and Falcon-Perez JM.
  TITLE     Proteomic analysis of microvesicles from plasma of healthy donors
            reveals high individual variability
  JOURNAL   J Proteomics 75 (12), 3574-3584 (2012)
   PUBMED   22516433
REFERENCE   7  (bases 1 to 3397)
  AUTHORS   Hashimoto T, Kato M, Shimomura T and Kitamura N.
  TITLE     TMPRSS13, a type II transmembrane serine protease, is inhibited by
            hepatocyte growth factor activator inhibitor type 1 and activates
            pro-hepatocyte growth factor
  JOURNAL   FEBS J 277 (23), 4888-4900 (2010)
   PUBMED   20977675
  REMARK    GeneRIF: results suggest that TMPRSS13 functions as an
            HGF-converting protease, the activity of which may be regulated by
            HAI-1
REFERENCE   8  (bases 1 to 3397)
  AUTHORS   Okumura Y, Takahashi E, Yano M, Ohuchi M, Daidoji T, Nakaya T,
            Bottcher E, Garten W, Klenk HD and Kido H.
  TITLE     Novel type II transmembrane serine proteases, MSPL and TMPRSS13,
            Proteolytically activate membrane fusion activity of the
            hemagglutinin of highly pathogenic avian influenza viruses and
            induce their multicycle replication
  JOURNAL   J Virol 84 (10), 5089-5096 (2010)
   PUBMED   20219906
  REMARK    GeneRIF: The authors report that serine proteases, MSPL and its
            splice variant TMPRSS13, are novel candidates for proteases
            processing HA proteins of highly pathogenic avian influenza (HPAI)
            viruses.
REFERENCE   9  (bases 1 to 3397)
  AUTHORS   Kido H and Okumura Y.
  TITLE     MSPL/TMPRSS13
  JOURNAL   Front Biosci 13, 754-758 (2008)
   PUBMED   17981585
  REMARK    GeneRIF: cloning of MSPL/TMPRSS13, which may play roles in the
            proteolytic processing of prohormones, precursors of growth factors,
            and also play roles in the pathogenicity of many viruses and
            bacteria in vivo Publication Status: Online-Only
REFERENCE   10  (bases 1 to 3397)
  AUTHORS   Kim DR, Sharmin S, Inoue M and Kido H.
  TITLE     Cloning and expression of novel mosaic serine proteases with and
            without a transmembrane domain from human lung
  JOURNAL   Biochim Biophys Acta 1518 (1-2), 204-209 (2001)
   PUBMED   11267681
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC114928.1, AK300283.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related         :: involved in SARS-CoV-2 infection
            MANE Ensembl match          :: ENST00000524993.6/ ENSP00000434279.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP002962.2, BC114928.1 and
            AW014913.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001077263.2.
            Summary: This gene encodes a member of the type II transmembrane
            serine protease family. The encoded protein contains a type II
            transmembrane domain, a receptor class A domain, a scavenger
            receptor cysteine-rich domain and a protease domain. Transmembrane
            serine proteases are regulated by protease inhibitors and known to
            function in development, homeostasis, infection, and tumorigenesis.
            This protein facilitates entry of viruses into host cells by
            proteolytically cleaving and activating viral envelope
            glycoproteins. [provided by RefSeq, Aug 2021].
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest protein (isoform 1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3397
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..3397
                     /gene="TMPRSS13"
                     /gene_synonym="MSP; MSPL; MSPS; TMPRSS11"
                     /note="transmembrane serine protease 13"
                     /db_xref="GeneID:84000"
                     /db_xref="HGNC:HGNC:29808"
                     /db_xref="MIM:610050"
     CDS             96..1799
                     /gene="TMPRSS13"
                     /gene_synonym="MSP; MSPL; MSPS; TMPRSS11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transmembrane protease, serine 11; membrane-type mosaic
                     serine protease; transmembrane protease, serine 13"
                     /codon_start=1
                     /product="transmembrane protease serine 13 isoform 1"
                     /protein_id="NP_001070731.1"
                     /db_xref="CCDS:CCDS41721.1"
                     /db_xref="GeneID:84000"
                     /db_xref="HGNC:HGNC:29808"
                     /db_xref="MIM:610050"
                     /translation="MERDSHGNASPARTPSAGASPAQASPAGTPPGRASPAQASPAQAS
                     PAGTPPGRASPAQASPAGTPPGRASPGRASPAQASPAQASPARASPALASLSRSSSGRS
                     SSARSASVTTSPTRVYLVRATPVGAVPIRSSPARSAPATRATRESPGTSLPKFTWREGQ
                     KQLPLIGCVLLLIALVVSLIILFQFWQGHTGIRYKEQRESCPKHAVRCDGVVDCKLKSD
                     ELGCVRFDWDKSLLKIYSGSSHQWLPICSSNWNDSYSEKTCQQLGFESAHRTTEVAHRD
                     FANSFSILRYNSTIQESLHRSECPSQRYISLQCSHCGLRAMTGRIVGGALASDSKWPWQ
                     VSLHFGTTHICGGTLIDAQWVLTAAHCFFVTREKVLEGWKVYAGTSNLHQLPEAASIAE
                     IIINSNYTDEEDDYDIALMRLSKPLTLSAHIHPACLPMHGQTFSLNETCWITGFGKTRE
                     TDDKTSPFLREVQVNLIDFKKCNDYLVYDSYLTPRMMCAGDLRGGRDSCQGDSGGPLVC
                     EQNNRWYLAGVTSWGTGCGQRNKPGVYTKVTEVLPWIYSKMESEVRFRKS"
     misc_feature    96..440
                     /gene="TMPRSS13"
                     /gene_synonym="MSP; MSPL; MSPS; TMPRSS11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYE2.5);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    120..374
                     /gene="TMPRSS13"
                     /gene_synonym="MSP; MSPL; MSPS; TMPRSS11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYE2.5);
                     Region: 13 X 5 AA repeats of A-S-P-A-[GLQR]"
     misc_feature    135..299
                     /gene="TMPRSS13"
                     /gene_synonym="MSP; MSPL; MSPS; TMPRSS11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYE2.5);
                     Region: 4 X 5 AA repeats of T-P-P-G-R"
     misc_feature    486..566
                     /gene="TMPRSS13"
                     /gene_synonym="MSP; MSPL; MSPS; TMPRSS11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYE2.5);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    591..653
                     /gene="TMPRSS13"
                     /gene_synonym="MSP; MSPL; MSPS; TMPRSS11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BYE2.5);
                     transmembrane region"
     misc_feature    777..782
                     /gene="TMPRSS13"
                     /gene_synonym="MSP; MSPL; MSPS; TMPRSS11"
                     /note="Cleavage, by autolysis, required for cell surface
                     localization and secretion.
                     /evidence=ECO:0000269|PubMed:35796294; propagated from
                     UniProtKB/Swiss-Prot (Q9BYE2.5); cleavage site"
     misc_feature    858..860
                     /gene="TMPRSS13"
                     /gene_synonym="MSP; MSPL; MSPS; TMPRSS11"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9BYE2.5); glycosylation site"
     misc_feature    969..971
                     /gene="TMPRSS13"
                     /gene_synonym="MSP; MSPL; MSPS; TMPRSS11"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9BYE2.5); glycosylation site"
     misc_feature    1068..1070
                     /gene="TMPRSS13"
                     /gene_synonym="MSP; MSPL; MSPS; TMPRSS11"
                     /note="Required for autocleavage and PRSS8 cleavage.
                     /evidence=ECO:0000269|PubMed:34562451,
                     ECO:0000269|PubMed:35796294; propagated from
                     UniProtKB/Swiss-Prot (Q9BYE2.5); other site"
     misc_feature    1308..1310
                     /gene="TMPRSS13"
                     /gene_synonym="MSP; MSPL; MSPS; TMPRSS11"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:34562451; propagated from
                     UniProtKB/Swiss-Prot (Q9BYE2.5); glycosylation site"
     misc_feature    1428..1430
                     /gene="TMPRSS13"
                     /gene_synonym="MSP; MSPL; MSPS; TMPRSS11"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:34562451; propagated from
                     UniProtKB/Swiss-Prot (Q9BYE2.5); glycosylation site"
     regulatory      3375..3380
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMPRSS13"
                     /gene_synonym="MSP; MSPL; MSPS; TMPRSS11"
                     /note="hexamer: AATAAA"
     polyA_site      3397
                     /gene="TMPRSS13"
                     /gene_synonym="MSP; MSPL; MSPS; TMPRSS11"
                     /note="major polyA site"
ORIGIN
        1 aactccttta ccctacatgc ctgagaagcc agggaccaag atggatcttc tcctcgacat
       61 cagctaagcc tggaggactc ttcccctcag agaccatgga gagggacagc cacgggaatg
      121 catctccagc aagaacacct tcagctggag catctccagc ccaggcatct ccagctggga
      181 cacctccagg ccgggcatct ccagcccagg catctccagc ccaggcatct ccagctggga
      241 cacctccggg ccgggcatct ccagcccagg catctccagc tggtacacct ccaggccggg
      301 catctccagg ccgggcatct ccagcccagg catctccagc ccaggcatct ccagcccggg
      361 catctccggc tctggcatca ctttccaggt cctcatccgg caggtcatca tccgccaggt
      421 cagcctcggt gacaacctcc ccaaccagag tgtaccttgt tagagcaaca ccagtggggg
      481 ctgtacccat ccgatcatct cctgccaggt cagcaccagc aaccagggcc accagggaga
      541 gcccaggtac gagcctgccc aagttcacct ggcgggaggg ccagaagcag ctaccgctca
      601 tcgggtgcgt gctcctcctc attgccctgg tggtttcgct catcatcctc ttccagttct
      661 ggcagggcca cacagggatc aggtacaagg agcagaggga gagctgtccc aagcacgctg
      721 ttcgctgtga cggggtggtg gactgcaagc tgaagagtga cgagctgggc tgcgtgaggt
      781 ttgactggga caagtctctg cttaaaatct actctgggtc ctcccatcag tggcttccca
      841 tctgtagcag caactggaat gactcctact cagagaagac ctgccagcag ctgggtttcg
      901 agagtgctca ccggacaacc gaggttgccc acagggattt tgccaacagc ttctcaatct
      961 tgagatacaa ctccaccatc caggaaagcc tccacaggtc tgaatgccct tcccagcggt
     1021 atatctctct ccagtgttcc cactgcggac tgagggccat gaccgggcgg atcgtgggag
     1081 gggcgctggc ctcggatagc aagtggcctt ggcaagtgag tctgcacttc ggcaccaccc
     1141 acatctgtgg aggcacgctc attgacgccc agtgggtgct cactgccgcc cactgcttct
     1201 tcgtgacccg ggagaaggtc ctggagggct ggaaggtgta cgcgggcacc agcaacctgc
     1261 accagttgcc tgaggcagcc tccattgccg agatcatcat caacagcaat tacaccgatg
     1321 aggaggacga ctatgacatc gccctcatgc ggctgtccaa gcccctgacc ctgtccgctc
     1381 acatccaccc tgcttgcctc cccatgcatg gacagacctt tagcctcaat gagacctgct
     1441 ggatcacagg ctttggcaag accagggaga cagatgacaa gacatccccc ttcctccggg
     1501 aggtgcaggt caatctcatc gacttcaaga aatgcaatga ctacttggtc tatgacagtt
     1561 accttacccc aaggatgatg tgtgctgggg accttcgtgg gggcagagac tcctgccagg
     1621 gagacagcgg ggggcctctt gtctgtgagc agaacaaccg ctggtacctg gcaggtgtca
     1681 ccagctgggg cacaggctgt ggccagagaa acaaacctgg tgtgtacacc aaagtgacag
     1741 aagttcttcc ctggatttac agcaagatgg agagcgaggt gcgattcaga aaatcctaac
     1801 cagctggcct gctgctctgc acagcaccgg ctgctgtgaa gactctggcc atggtgactg
     1861 gccatgtgtg gcatcatctg ggctaatggc caccgggcac catcggactc ccacctccac
     1921 tgtctgctgc ctctgtgtgt gtgtgtgtgt gtgtgtgtgt gtgtgcatat gtgtgcattg
     1981 ccactctccc aagtttttca gaaaccagca gagctgtcaa ctcttctcaa aatcccaggc
     2041 tggaaattac ctggagacaa gagttgagta ccgtggatgt tcctacagga gtgtccatag
     2101 atggatggag gaggtggagc ccagagccca aggaagagct gggaattctt gcttctctga
     2161 ccctcactta cagactagcc cagtgtgggc agatgccagc ggcccaggtg gcgccattgc
     2221 tgtcctggga tggatcgtgg gttttggtgg atgcagcttc ccagggcctg gaccgtcttc
     2281 ggtgaaaagc tgctcccgtt ggctttatga gcatcaagtc ctcacccaga ccccctgctg
     2341 gtgccgtgga tgtcaccagt cggactgtgc tgtggctaac caggctgaca actgagatga
     2401 ggattcactg tactcatttg gtcacaagct gctggggcgg gttttatttt attttatttt
     2461 tatatttaag aaatgaaaat acgggtattt ttaaagattc tccaaaaagt ccagaagcct
     2521 tgacagctgg catcaatcag cccaagaccc ccaggggatt catgggaaat gtcgtatttt
     2581 agagtcctac agaatatttc tggcctcaag gaactggatg aagagactgg acaaagtccc
     2641 caggatgggc atcccccaag tcactacagc atctggagcc cctaggagat actcagggaa
     2701 gcaaatcctt gtttgggctg gcaagcaaat ccgacacgac gaggtccaca aactgtttct
     2761 gcatcccagg gctctgacga aggcgttaag aaacagatgc tgttcccgcg taggctccca
     2821 ggggccccag ggaggtccag gtggactgcc tctctcattc ccagtagctg tcctgggact
     2881 ttgggatttc ttctcagctt tctccacctt tcagtttctc agttgtttca gaaacatagc
     2941 aatgacataa aaactgctat ggagagaaag ctaacatggt cccatgcctt ccaggcagcc
     3001 ctgctgaagg atctaagttg gccctgttcc tgcaaatcat caacgtgcct ggactcgcca
     3061 gctaaaagcc tgggccttcc ccagcctttt ttctggggca cctattcctc tgccagtcct
     3121 gctcccctca ccttccttgg gcccgtcaga gtcttttgtg gtgctgtgct tctcagaggc
     3181 aggatccaag cagatcagcc cagcctagcc cagctcaggc aggccatggc cgctcaaggg
     3241 aaagactgcc ccagaagagc aagctggaga ggctgggcag gggctgatgg ggctgggtac
     3301 actggggaat gttagcaaga ctgggaagga ggccacattc ctgtctgcag cagccgccag
     3361 cgatggtctt cagcaataaa agttgtgtga cctgaga
//
LOCUS       NM_001077268            2775 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens zinc finger FYVE-type containing 19 (ZFYVE19),
            transcript variant 1, mRNA.
ACCESSION   NM_001077268
VERSION     NM_001077268.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2775)
  AUTHORS   Luan W, Hao CZ, Li JQ, Wei Q, Gong JY, Qiu YL, Lu Y, Shen CH, Xia Q,
            Xie XB, Zhang MH, Abuduxikuer K, Li ZD, Wang L, Xing QH, Knisely AS
            and Wang JS.
  TITLE     Biallelic loss-of-function ZFYVE19 mutations are associated with
            congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT
            cholestasis
  JOURNAL   J Med Genet 58 (8), 514-525 (2021)
   PUBMED   32737136
  REMARK    GeneRIF: Biallelic loss-of-function ZFYVE19 mutations are associated
            with congenital hepatic fibrosis, sclerosing cholangiopathy and
            high-GGT cholestasis.
REFERENCE   2  (bases 1 to 2775)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2775)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2775)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2775)
  AUTHORS   Thoresen SB, Campsteijn C, Vietri M, Schink KO, Liestol K, Andersen
            JS, Raiborg C and Stenmark H.
  TITLE     ANCHR mediates Aurora-B-dependent abscission checkpoint control
            through retention of VPS4
  JOURNAL   Nat Cell Biol 16 (6), 550-560 (2014)
   PUBMED   24814515
  REMARK    GeneRIF: Propose that the abscission checkpoint is mediated by ANCHR
            and CHMP4C through retention of VPS4 at the midbody ring.
REFERENCE   6  (bases 1 to 2775)
  AUTHORS   Suter B, Fontaine JF, Yildirimman R, Rasko T, Schaefer MH, Rasche A,
            Porras P, Vazquez-Alvarez BM, Russ J, Rau K, Foulle R, Zenkner M,
            Saar K, Herwig R, Andrade-Navarro MA and Wanker EE.
  TITLE     Development and application of a DNA microarray-based yeast
            two-hybrid system
  JOURNAL   Nucleic Acids Res 41 (3), 1496-1507 (2013)
   PUBMED   23275563
REFERENCE   7  (bases 1 to 2775)
  AUTHORS   Kaltenbach LS, Romero E, Becklin RR, Chettier R, Bell R, Phansalkar
            A, Strand A, Torcassi C, Savage J, Hurlburt A, Cha GH, Ukani L,
            Chepanoske CL, Zhen Y, Sahasrabudhe S, Olson J, Kurschner C, Ellerby
            LM, Peltier JM, Botas J and Hughes RE.
  TITLE     Huntingtin interacting proteins are genetic modifiers of
            neurodegeneration
  JOURNAL   PLoS Genet 3 (5), e82 (2007)
   PUBMED   17500595
REFERENCE   8  (bases 1 to 2775)
  AUTHORS   Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   9  (bases 1 to 2775)
  AUTHORS   Chinwalla V, Chien A, Odero M, Neilly MB, Zeleznik-Le NJ and Rowley
            JD.
  TITLE     A t(11;15) fuses MLL to two different genes, AF15q14 and a novel
            gene MPFYVE on chromosome 15
  JOURNAL   Oncogene 22 (9), 1400-1410 (2003)
   PUBMED   12618766
  REMARK    GeneRIF: In a transcript from a patient with AML-M2, MLL is fused to
            a novel gene: MLL partner containing FYVE domain (MPFYVE). MPFYVE is
            also located on chromosome 15, about 170 kb telomeric to AF15q14.
            MPFYVE contains the highly conserved FYVE domain. [MPFYVE]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1035349.1, BC015738.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000355341.8/ ENSP00000347498.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA653225.1, DA611931.1, AK027746.1, BI860679.1, AF445414.1 and
            AC012476.8.
            On May 17, 2019 this sequence version replaced NM_001077268.1.
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2775
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.1"
     gene            1..2775
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="zinc finger FYVE-type containing 19"
                     /db_xref="GeneID:84936"
                     /db_xref="HGNC:HGNC:20758"
                     /db_xref="MIM:619635"
     misc_feature    499..501
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="upstream in-frame stop codon"
     CDS             502..1917
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="isoform 1 is encoded by transcript variant 1; zinc
                     finger FYVE domain-containing protein 19; MLL partner
                     containing FYVE domain; abscission/NoCut checkpoint
                     regulator; zinc finger, FYVE domain containing 19"
                     /codon_start=1
                     /product="abscission/NoCut checkpoint regulator isoform 1"
                     /protein_id="NP_001070736.1"
                     /db_xref="CCDS:CCDS42025.1"
                     /db_xref="GeneID:84936"
                     /db_xref="HGNC:HGNC:20758"
                     /db_xref="MIM:619635"
                     /translation="MNYDSQQPPLPPLPYAGCRRASGFPALGRGGTVPVGVWGGAGQGR
                     EGRSWGEGPRGPGLGRRDLSSADPAVLGATMESRCYGCAVKFTLFKKEYGCKNCGRAFC
                     SGCLSFSAAVPRTGNTQQKVCKQCHEVLTRGSSANASKWSPPQNYKKRVAALEAKQKPS
                     TSQSQGLTRQDQMIAERLARLRQENKPKLVPSQAEIEARLAALKDERQGSIPSTQEMEA
                     RLAALQGRVLPSQTPQPAHHTPDTRTQAQQTQDLLTQLAAEVAIDESWKGGGPAASLQN
                     DLNQGGPGSTNSKRQANWSLEEEKSRLLAEAALELREENTRQERILALAKRLAMLRGQD
                     PERVTLQDYRLPDSDDDEDEETAIQRVLQQLTEEASLDEASGFNIPAEQASRPWTQPRG
                     AEPEAQDVDPRPEAEEEELPWCCICNEDATLRCAGCDGDLFCARCFREGHDAFELKEHQ
                     TSAYSPPRAGQEH"
     misc_feature    616..693
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96K21.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    931..933
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96K21.3); phosphorylation site"
     misc_feature    934..939
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="Breakpoint for translocation to form
                     KMT2A/MLL1-ZFYVE19; propagated from UniProtKB/Swiss-Prot
                     (Q96K21.3); other site"
     misc_feature    1021..1062
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96K21.3);
                     Region: MIM1-A"
     misc_feature    1228..1230
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q96K21.3); phosphorylation site"
     misc_feature    1312..1398
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96K21.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1357..1359
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q96K21.3); phosphorylation site"
     misc_feature    1378..1380
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96K21.3); phosphorylation site"
     misc_feature    1477..1518
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96K21.3);
                     Region: MIM1-B"
     misc_feature    1561..1563
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18318008,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19367720,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q96K21.3); phosphorylation site"
     misc_feature    1657..1737
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96K21.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1888..1890
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96K21.3); phosphorylation site"
     regulatory      2237..2242
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="hexamer: AATAAA"
     polyA_site      2260
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="major polyA site"
     regulatory      2425..2430
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
                     /note="hexamer: AGTAAA"
     polyA_site      2450
                     /gene="ZFYVE19"
                     /gene_synonym="ANCHR; MPFYVE; PFIC9"
ORIGIN
        1 gttccttgct gcctcgcccc gcggcctcta ggagacaggg gccacgggga gagcacagcc
       61 acccggcgcg aagagccctc tgtaccccgc ttcctcttga ggccctcgga ccgtccagga
      121 aatgtctggg agcccgcctg cggagggcat agcgccgacc ctcgctcccc gcccaggacc
      181 cgaatgaacc tggagagcgg atgccagcag tggccgaggc gctaggacag gaaggaccgc
      241 cagacctctc aagatcagcc ttcctcgcca ccgttctcac ctctttgtcc gctgccttct
      301 cctcaatgcc tagcagcgcg tacaggtcca tctgtaagag ctccttggtc actgccatgg
      361 ttccggcctg acggattcgt actacaactc ccaagagtct aagcgcgcgt gaggactgca
      421 ggctccgagc ggcgcctagc cctctgggaa ttgtgttctg ggtcaggctt gactgactct
      481 gagggaggcc ggcagtcgtg aatgaactac gactcccagc agcccccgtt gccgccgctg
      541 ccgtacgctg gctgcaggag agcgtccgga ttccctgctc taggtcgcgg cgggacagtg
      601 ccagtgggcg tgtggggcgg ggcagggcag ggaagggaag ggcggagctg gggtgagggt
      661 ccaaggggcc caggacttgg ccggcgtgat ctcagctctg cagaccctgc ggtgctggga
      721 gccaccatgg agagtaggtg ctacggctgc gctgtcaagt tcaccctctt caagaaggag
      781 tacggctgta agaattgtgg cagggccttc tgttcaggct gcctaagctt cagtgcagca
      841 gtgcctcgga ctgggaacac ccaacagaaa gtctgcaagc aatgccatga ggtcctgacc
      901 agagggtctt ctgccaatgc ctccaagtgg tcaccacctc agaactataa gaagcgtgtg
      961 gcagccttgg aagccaagca aaagcccagc acttcccaga gccagggact gacacgacaa
     1021 gaccagatga ttgctgagcg cctagcacga ctccgccagg agaacaagcc caagttagtc
     1081 ccctcacagg cagagataga ggcacggctg gctgccctaa aggatgaacg tcagggttcc
     1141 atcccttcca cccaggaaat ggaggcacga cttgcagcgt tgcagggcag agttctacct
     1201 tctcaaaccc cccagccggc acatcacaca ccggacacca ggacccaagc ccagcagaca
     1261 caggatctgc taacgcagct ggcagctgag gtggctatcg atgaaagctg gaaaggagga
     1321 ggcccagctg cctctctcca gaatgatctc aaccagggtg gcccagggag cactaattcc
     1381 aagaggcagg ccaactggtc cttggaggag gagaagagca gactgctggc tgaggcagca
     1441 cttgagttgc gggaggagaa cacgaggcag gaacggattc tggccctggc caagcgacta
     1501 gccatgctgc ggggacagga ccccgagaga gtgaccctcc aggactatcg cctcccagac
     1561 agtgatgacg acgaggatga ggagacagcc atccaaagag tcctgcagca gctcactgaa
     1621 gaagcttccc tggatgaggc aagtggcttt aacatccctg cagagcaggc ttctcgaccc
     1681 tggacgcaac cccgcggggc agagcctgag gcccaggatg tggaccccag gcctgaggct
     1741 gaggaagagg agctcccctg gtgctgcatc tgcaatgagg atgccaccct acgctgcgct
     1801 ggctgcgatg gggacctctt ctgtgcccgc tgcttccgag agggccatga tgcctttgag
     1861 cttaaagagc accagacatc tgcctactct cctccacgtg caggccaaga gcactgaaga
     1921 caccctggtc ctcccggaag ggcagtccca caggcagcgg cacccatttc tgggcccagc
     1981 cacaggacgt ccgatgggag agcttgtctg gctctactga tgatggatag gccccttcct
     2041 gagccttggt gtccctggaa tgaggaaaga ttctccattc gagagaatga ctgggaggga
     2101 agaagtcggg gccctcctat tagaagccca gactggaagt gagaggcatg atggggagag
     2161 accagactga atctacgggt gagccctgta acctggctct agggcacagg cccctcccct
     2221 ggcacttagt gggtctaata aagtatgttg attcattggg cccagcatct catttctaca
     2281 accctatgag cctgggccct gtgagaggtg gcaggaacag agcaggctgt aagcacagtt
     2341 gtggggaatg ggggaaaagg ttgagccatc ctatgaactt ctccaggcag gaacagccct
     2401 acccatcctg gtggcctcat acgaagtaaa catgtattca ttcaactcaa ctgtgctcca
     2461 gctctgggca gccccactta gccaccagtc cccaccatct tggatttctc agcctctcta
     2521 ctactcacac aatgcacgca ggaacaatgc acacacaccc tgcttcctgc cttactggca
     2581 aaggacccca gctcctaggg ctcctgtccc aacctgcctg ccattcagtc tcagtatctc
     2641 tcttccagta atgcgcccta accggacccc tgacctctcg gcatgtaccc tttacatgcc
     2701 tctgcattgc ctctgctgtt tctcttcctg cccctggctg gaaccaacta taaagagccc
     2761 tcgggctgag gtcta
//
LOCUS       NM_001077350            3128 bp    mRNA    linear   PRI 19-SEP-2023
DEFINITION  Homo sapiens NPR3 like, GATOR1 complex subunit (NPRL3), transcript
            variant 1, mRNA.
ACCESSION   NM_001077350
VERSION     NM_001077350.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3128)
  AUTHORS   Du S, Zeng S, Song L, Ma H, Chen R, Luo J, Wang X, Ma T, Xu X, Sun
            H, Yi P, Guo J, Huang Y, Liu M, Wang T, Liao WP, Zhang L, Liu JY and
            Tang B.
  TITLE     Functional characterization of novel NPRL3 mutations identified in
            three families with focal epilepsy
  JOURNAL   Sci China Life Sci 66 (9), 2152-2166 (2023)
   PUBMED   37071290
  REMARK    GeneRIF: Functional characterization of novel NPRL3 mutations
            identified in three families with focal epilepsy.
REFERENCE   2  (bases 1 to 3128)
  AUTHORS   Wang Y, Yu P, Zhu G, Wu X, Ding D and Hong Z.
  TITLE     The clinical features of familial focal epilepsy with variable foci
            and NPRL3 gene variant
  JOURNAL   PLoS One 18 (4), e0284924 (2023)
   PUBMED   37099548
  REMARK    GeneRIF: The clinical features of familial focal epilepsy with
            variable foci and NPRL3 gene variant. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 3128)
  AUTHORS   Egri SB, Ouch C, Chou HT, Yu Z, Song K, Xu C and Shen K.
  TITLE     Cryo-EM structures of the human GATOR1-Rag-Ragulator complex reveal
            a spatial-constraint regulated GAP mechanism
  JOURNAL   Mol Cell 82 (10), 1836-1849 (2022)
   PUBMED   35338845
REFERENCE   4  (bases 1 to 3128)
  AUTHORS   Chandrasekar I, Tourney A, Loo K, Carmichael J, James K, Ellsworth
            KA, Dimmock D and Joseph M.
  TITLE     Hemimegalencephaly and intractable seizures associated with the
            NPRL3 gene variant in a newborn: A case report
  JOURNAL   Am J Med Genet A 185 (7), 2126-2130 (2021)
   PUBMED   33749980
  REMARK    GeneRIF: Hemimegalencephaly and intractable seizures associated with
            the NPRL3 gene variant in a newborn: A case report.
REFERENCE   5  (bases 1 to 3128)
  AUTHORS   Benova B, Sanders MWCB, Uhrova-Meszarosova A, Belohlavkova A,
            Hermanovska B, Novak V, Stanek D, Vlckova M, Zamecnik J, Aronica E,
            Braun KPJ, Koeleman BPC, Jansen FE and Krsek P.
  TITLE     GATOR1-related focal cortical dysplasia in epilepsy surgery patients
            and their families: A possible gradient in severity?
  JOURNAL   Eur J Paediatr Neurol 30, 88-96 (2021)
   PUBMED   33461085
  REMARK    GeneRIF: GATOR1-related focal cortical dysplasia in epilepsy surgery
            patients and their families: A possible gradient in severity?
REFERENCE   6  (bases 1 to 3128)
  AUTHORS   Lunardi A, Chiacchiera F, D'Este E, Carotti M, Dal Ferro M, Di Minin
            G, Del Sal G and Collavin L.
  TITLE     The evolutionary conserved gene C16orf35 encodes a
            nucleo-cytoplasmic protein that interacts with p73
  JOURNAL   Biochem Biophys Res Commun 388 (2), 428-433 (2009)
   PUBMED   19666006
  REMARK    GeneRIF: C16orf35 can modulate differentially the specific
            activities of selected p73 isoforms.
REFERENCE   7  (bases 1 to 3128)
  AUTHORS   Neklesa TK and Davis RW.
  TITLE     A genome-wide screen for regulators of TORC1 in response to amino
            acid starvation reveals a conserved Npr2/3 complex
  JOURNAL   PLoS Genet 5 (6), e1000515 (2009)
   PUBMED   19521502
REFERENCE   8  (bases 1 to 3128)
  AUTHORS   De Gobbi M, Viprakasit V, Hughes JR, Fisher C, Buckle VJ, Ayyub H,
            Gibbons RJ, Vernimmen D, Yoshinaga Y, de Jong P, Cheng JF, Rubin EM,
            Wood WG, Bowden D and Higgs DR.
  TITLE     A regulatory SNP causes a human genetic disease by creating a new
            transcriptional promoter
  JOURNAL   Science 312 (5777), 1215-1217 (2006)
   PUBMED   16728641
REFERENCE   9  (bases 1 to 3128)
  AUTHORS   Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G,
            Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E,
            Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM,
            Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C,
            Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M,
            Clark LM, Cohn JD, Denys M, Detter JC, Dickson M,
            Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos
            D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady
            DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand
            CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H,
            Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y,
            Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ,
            Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S,
            Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer
            J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH, Scott
            D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R, Tesmer
            JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M, Tsai M,
            Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL, Wills PL,
            Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA, Deaven L,
            Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler EE, Gilna
            P, Lucas SM, Myers RM, Rubin EM and Pennacchio LA.
  TITLE     The sequence and analysis of duplication-rich human chromosome 16
  JOURNAL   Nature 432 (7020), 988-994 (2004)
   PUBMED   15616553
REFERENCE   10  (bases 1 to 3128)
  AUTHORS   Vyas P, Vickers MA, Picketts DJ and Higgs DR.
  TITLE     Conservation of position and sequence of a novel, widely expressed
            gene containing the major human alpha-globin regulatory element
  JOURNAL   Genomics 29 (3), 679-689 (1995)
   PUBMED   8575760
COMMENT     ##Evidence-Data-START##
            CDS exon combination :: SRR1803611.75559.1, SRR1660803.100275.1
            [ECO:0000331]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000611875.5/ ENSP00000478273.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z69666.1, DA258664.1,
            AK090717.1 and Z69720.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001077350.2.
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3128
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..3128
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE; NPR3;
                     RMD11"
                     /note="NPR3 like, GATOR1 complex subunit"
                     /db_xref="GeneID:8131"
                     /db_xref="HGNC:HGNC:14124"
                     /db_xref="MIM:600928"
     CDS             100..1809
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE; NPR3;
                     RMD11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     conserved gene telomeric to alpha globin cluster; -14 gene
                     protein; alpha-globin regulatory element-containing gene
                     protein; GATOR complex protein NPRL3; GATOR1 complex
                     protein NPRL3"
                     /codon_start=1
                     /product="GATOR1 complex protein NPRL3 isoform 1"
                     /protein_id="NP_001070818.1"
                     /db_xref="CCDS:CCDS73795.1"
                     /db_xref="GeneID:8131"
                     /db_xref="HGNC:HGNC:14124"
                     /db_xref="MIM:600928"
                     /translation="MRDNTSPISVILVSSGSRGNKLLFRYPFQRSQEHPASQTSKPRSR
                     YAASNTGDHADEQDGDSRFSDVILATILATKSEMCGQKFELKIDNVRFVGHPTLLQHAL
                     GQISKTDPSPKREAPTMILFNVVFALRANADPSVINCLHNLSRRIATVLQHEERRCQYL
                     TREAKLILALQDEVSAMADGNEGPQSPFHHILPKCKLARDLKEAYDSLCTSGVVRLHIN
                     SWLEVSFCLPHKIHYAASSLIPPEAIERSLKAIRPYHALLLLSDEKSLLGELPIDCSPA
                     LVRVIKTTSAVKNLQQLAQDADLALLQVFQLAAHLVYWGKAIIIYPLCENNVYMLSPNA
                     SVCLYSPLAEQFSHQFPSHDLPSVLAKFSLPVSLSEFRNPLAPAVQETQLIQMVVWMLQ
                     RRLLIQLHTYVCLMASPSEEEPRPREDDVPFTARVGGRSLSTPNALSFGSPTSSDDMTL
                     TSPSMDNSSAELLPSGDSPLNQRMTENLLASLSEHERAAILSVPAAQNPEDLRMFARLL
                     HYFRGRHHLEEIMYNENTRRSQLLMLFDKFRSVLVVTTHEDPVIAVFQALLP"
     misc_feature    178..279
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE; NPR3;
                     RMD11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12980.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1345..1530
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE; NPR3;
                     RMD11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q12980.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1525..1527
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE; NPR3;
                     RMD11"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q12980.1); phosphorylation site"
     regulatory      2677..2682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE; NPR3;
                     RMD11"
                     /note="hexamer: AATAAA"
     regulatory      2705..2710
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE; NPR3;
                     RMD11"
                     /note="hexamer: ATTAAA"
     polyA_site      2713
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE; NPR3;
                     RMD11"
                     /note="major polyA site"
     polyA_site      2726
                     /gene="NPRL3"
                     /gene_synonym="C16orf35; CGTHBA; FFEVF3; HS-40; MARE; NPR3;
                     RMD11"
ORIGIN
        1 gaagtctcgc gagcccggag cgtggcacgt gggccccctc cgcctccggc tccgtcctcc
       61 tctggccccc tccgcccccg gccccggccc cacggcggga tgcgggacaa caccagcccc
      121 atcagcgtga ttctggtgag ctcggggagc aggggcaata agctgctgtt caggtacccc
      181 ttccagagaa gccaggagca cccggcgtcc cagacaagta agccgcgtag cagatacgct
      241 gccagcaaca cgggcgacca tgctgatgag caggacggcg attccaggtt ttcagatgtt
      301 attctggcaa caattttggc aaccaagtct gaaatgtgtg gccaaaaatt tgaactgaag
      361 attgataatg tgcgatttgt tgggcaccca acactgctac agcatgctct ggggcagatc
      421 tccaaaacag atccttcccc gaagagggaa gcacctacta tgattctttt taatgtggtg
      481 tttgcactga gggccaacgc agacccgtca gtgataaact gtctgcataa cctgtcccgt
      541 cgtatcgcca ccgtgctgca gcacgaggag cgccgctgcc agtacctcac ccgggaggcc
      601 aagctgatcc tggcgctcca ggatgaggtg tccgccatgg ctgatggaaa tgaaggtcct
      661 cagtccccat tccatcacat cctgcccaag tgcaagctgg ccagggacct caaggaagct
      721 tatgacagcc tgtgcacgtc gggcgtagtt cggcttcaca tcaacagctg gctggaggtg
      781 agcttctgcc tgccccacaa gatccactat gcggcctcca gtctgatccc cccagaggcc
      841 atcgaacgga gcctgaaagc catccgcccc taccatgccc tgctgctgct cagtgatgag
      901 aagtccttgc tgggtgagct tcctattgac tgctcccctg ccctagtgcg ggtgatcaag
      961 accacatctg ctgtgaagaa cctgcagcag ctagcccaag atgcggacct ggccttgctg
     1021 caggttttcc agcttgcagc tcatctggtg tactggggca aggccatcat catctacccg
     1081 ctgtgtgaga acaacgtcta catgctgtct cccaatgcca gcgtatgtct gtactccccg
     1141 ctggccgagc agttctccca ccagttccca tctcatgacc tgccgtccgt tcttgccaag
     1201 ttctccttgc cggtctcctt gtcagaattt aggaatcccc tggcccccgc tgtgcaggag
     1261 acccagctca tccagatggt ggtgtggatg ctgcagcgcc ggcttctcat ccagctgcac
     1321 acctatgtct gcctgatggc ctcacccagc gaggaggagc cccgtccgcg agaggacgac
     1381 gtccccttca ctgcccgggt cggcggtcgc agcctcagca cgcccaacgc cctcagcttt
     1441 ggctccccaa ccagcagcga tgacatgacc ctcaccagcc ccagcatgga caactccagc
     1501 gcagagctac ttcccagcgg ggactcgcca ctgaaccaga ggatgacgga gaacctgctg
     1561 gccagcctgt cggagcatga acgcgcagcc atcctcagtg tacccgcagc ccagaaccct
     1621 gaggacctcc gcatgtttgc caggctcctt cactacttcc gcggccgcca ccacctggag
     1681 gagattatgt acaacgagaa cacgcggcgc tcccagctgc tcatgctgtt tgacaagttc
     1741 cgcagcgtgc tggtggtgac cacccacgag gaccctgtca ttgccgtctt ccaggctctg
     1801 ctcccctgag cccaggcgga gggcggaagg ctgctggggt gcgcaggtgg gcgctcgcgt
     1861 ctccccaccc cagggctccc cccgtgctga ggctgagccc tcttggccct gaggcctggc
     1921 attgggtgga tgcgggctgg ccgtggccca gtgaagcctg cagagccccg ctgtccttgc
     1981 ccctggtggt tccgctgtgg ggctgctgcc ctctgtgttc ctacgcttcc ctccagtcct
     2041 tgccgcacgc gtaggcatct ccacgctgga ggggggcctg ccaggactcc tgtctctggg
     2101 tgaggccgca tccttcaagg cccatgtggg ctgtgcgttt ctcagaccct ccttctgtcc
     2161 ctacacctgc tccttggacc ccccagtctg tggccaccct gaagaatgtg cagaaacact
     2221 tgtgtggcct gtccctgtct ctctgacagc cttctatttg tgaagtgccc tgtggccccc
     2281 tccccagcac ctctgtctgc catgcgcttc ttcctcccag gctaccctga gcctttcctg
     2341 gcccagtcct caccacagtc cacagaagcc gcaaacaggc tcatagccaa gctgtgacct
     2401 ggtcctgacc atctggggca cgagggcctg ggctggccct gctaggctgg agaagccctg
     2461 tcacctgtgc acatcttgct ggtggaggca tggcccactg tgcaggaccc caccctcggg
     2521 ggctttcggc tcccacactg atgattctcc ccagcatcca caccgggcct ggcgctacgt
     2581 actcaggccc ccagctctcg tgtcctggag gaagagctag ctccagacat gggttgatca
     2641 cctagaggag ctctggctaa ggcacagttt tctagaaata aaacatttat tcggttttta
     2701 aacaattaaa aaatcttgtc tgggcaggcc ctttgctcag gcctgtgtgt cctgctcagc
     2761 cactctgtcg accacactga cccaggggct gccccggaca tagaagcgga ggggtttccg
     2821 ggcccactcc cctgcatggc cgacgcccac ccgggctgct gccactacag ccggctcact
     2881 gggctccagg ggaccacgct ccagccatac agcttcatcc tgtgccaggt ccctctggtc
     2941 aaagctcttg ttgatggcca gggcctggca cagcttggag gggccactgc agagctcgcg
     3001 gtccttgagg acacggctgg cggtgccttt ccggagggtg ctgcgaagct gacgcatggt
     3061 ctccagacct tccaggggct ccagtgctcg cagcaagacg caagccccgt cccctgtggg
     3121 acggacag
//
LOCUS       NM_001077351           10007 bp    mRNA    linear   PRI 18-SEP-2023
DEFINITION  Homo sapiens RNA binding motif protein 23 (RBM23), transcript
            variant 1, mRNA.
ACCESSION   NM_001077351
VERSION     NM_001077351.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10007)
  AUTHORS   Han H, Lin T, Fang Z and Zhou G.
  TITLE     RBM23 Drives Hepatocellular Carcinoma by Activating NF-kappaB
            Signaling Pathway
  JOURNAL   Biomed Res Int 2021, 6697476 (2021)
   PUBMED   33791378
  REMARK    GeneRIF: RBM23 Drives Hepatocellular Carcinoma by Activating
            NF-kappaB Signaling Pathway. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 10007)
  AUTHORS   Faust TB, Yoon H, Nowak RP, Donovan KA, Li Z, Cai Q, Eleuteri NA,
            Zhang T, Gray NS and Fischer ES.
  TITLE     Structural complementarity facilitates E7820-mediated degradation of
            RBM39 by DCAF15
  JOURNAL   Nat Chem Biol 16 (1), 7-14 (2020)
   PUBMED   31686031
  REMARK    GeneRIF: aryl-sulfonamides neo-functionalize a shallow,
            non-conserved pocket on DCAF15 to selectively bind and degrade RBM39
            and the closely related splicing factor RBM23 without the
            requirement for a high-affinity ligand
REFERENCE   3  (bases 1 to 10007)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE,
            Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Wanamaker SA,
            Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G,
            Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   4  (bases 1 to 10007)
  AUTHORS   Varjosalo M, Keskitalo S, Van Drogen A, Nurkkala H, Vichalkovski A,
            Aebersold R and Gstaiger M.
  TITLE     The protein interaction landscape of the human CMGC kinase group
  JOURNAL   Cell Rep 3 (4), 1306-1320 (2013)
   PUBMED   23602568
REFERENCE   5  (bases 1 to 10007)
  AUTHORS   Weimann M, Grossmann A, Woodsmith J, Ozkan Z, Birth P, Meierhofer D,
            Benlasfer N, Valovka T, Timmermann B, Wanker EE, Sauer S and Stelzl
            U.
  TITLE     A Y2H-seq approach defines the human protein methyltransferase
            interactome
  JOURNAL   Nat Methods 10 (4), 339-342 (2013)
   PUBMED   23455924
REFERENCE   6  (bases 1 to 10007)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   7  (bases 1 to 10007)
  AUTHORS   Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H,
            Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff
            S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksoz E, Droege A,
            Krobitsch S, Korn B, Birchmeier W, Lehrach H and Wanker EE.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
REFERENCE   8  (bases 1 to 10007)
  AUTHORS   Dowhan DH, Hong EP, Auboeuf D, Dennis AP, Wilson MM, Berget SM and
            O'Malley BW.
  TITLE     Steroid hormone receptor coactivation and alternative RNA splicing
            by U2AF65-related proteins CAPERalpha and CAPERbeta
  JOURNAL   Mol Cell 17 (3), 429-439 (2005)
   PUBMED   15694343
REFERENCE   9  (bases 1 to 10007)
  AUTHORS   Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X,
            Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X, Xu
            H, Guo M, Pan Z, Chen Y, Ge C, Yang S and Gu J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   10  (bases 1 to 10007)
  AUTHORS   Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C,
            Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A,
            Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du
            H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon O,
            Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere F,
            Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors
            M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A,
            Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S,
            Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C,
            Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette
            S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D,
            Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A,
            Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C,
            Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D,
            Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J,
            Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F,
            Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F,
            Waterston R, Hood L and Weissenbach J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
  REMARK    Erratum:[Nature. 2023 Aug;620(7973):E17. PMID: 37491470]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AK225792.1, SRR1660805.183650.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000359890.8/ ENSP00000352956.3
            RefSeq Select criteria      :: based on expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CK003276.1, BX161440.1,
            BC106012.1 and AL135998.6.
            On Nov 22, 2018 this sequence version replaced NM_001077351.1.
            Summary: This gene encodes a member of the U2AF-like family of RNA
            binding proteins. This protein interacts with some steroid nuclear
            receptors, localizes to the promoter of a steroid- responsive gene,
            and increases transcription of steroid-responsive transcriptional
            reporters in a hormone-dependent manner. It is also implicated in
            the steroid receptor-dependent regulation of alternative splicing.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (1) encodes isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..10007
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..10007
                     /gene="RBM23"
                     /gene_synonym="CAPERbeta; PP239; RNPC4"
                     /note="RNA binding motif protein 23"
                     /db_xref="GeneID:55147"
                     /db_xref="HGNC:HGNC:20155"
     misc_feature    150..152
                     /gene="RBM23"
                     /gene_synonym="CAPERbeta; PP239; RNPC4"
                     /note="upstream in-frame stop codon"
     CDS             162..1481
                     /gene="RBM23"
                     /gene_synonym="CAPERbeta; PP239; RNPC4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     RNA-binding region (RNP1, RRM) containing 4; splicing
                     factor SF2; probable RNA-binding protein 23; RNA-binding
                     region-containing protein 4; coactivator of activating
                     protein-1 and estrogen recep- tors beta; CAPER beta"
                     /codon_start=1
                     /product="probable RNA-binding protein 23 isoform 1"
                     /protein_id="NP_001070819.1"
                     /db_xref="CCDS:CCDS41921.1"
                     /db_xref="GeneID:55147"
                     /db_xref="HGNC:HGNC:20155"
                     /translation="MASDDFDIVIEAMLEAPYKKEEDEQQRKEVKKDYPSNTTSSTSNS
                     GNETSGSSTIGETSKKKRSRSHNKSRDRKRSRSRDRDRYRRRNSRSRSPGRQCRHRSRS
                     WDRRHGSESRSRDHRREDRVHYRSPPLATGYRYGHSKSPHFREKSPVREPVDNLSPEER
                     DARTVFCMQLAARIRPRDLEDFFSAVGKVRDVRIISDRNSRRSKGIAYVEFCEIQSVPL
                     AIGLTGQRLLGVPIIVQASQAEKNRLAAMANNLQKGNGGPMRLYVGSLHFNITEDMLRG
                     IFEPFGKIDNIVLMKDSDTGRSKGYGFITFSDSECARRALEQLNGFELAGRPMRVGHVT
                     ERLDGGTDITFPDGDQELDLGSAGGRFQLMAKLAEGAGIQLPSTAAAAAAAAAQAAALQ
                     LNGAVPLGALNPAALTALSPALNLASQCFQLSSLFTPQTM"
     misc_feature    198..638
                     /gene="RBM23"
                     /gene_synonym="CAPERbeta; PP239; RNPC4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86U06.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    543..545
                     /gene="RBM23"
                     /gene_synonym="CAPERbeta; PP239; RNPC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86U06.1); phosphorylation site"
     misc_feature    606..608
                     /gene="RBM23"
                     /gene_synonym="CAPERbeta; PP239; RNPC4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q86U06.1);
                     phosphorylation site"
     regulatory      2426..2431
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBM23"
                     /gene_synonym="CAPERbeta; PP239; RNPC4"
                     /note="hexamer: CATAAA"
     polyA_site      2445
                     /gene="RBM23"
                     /gene_synonym="CAPERbeta; PP239; RNPC4"
                     /note="major polyA site"
     regulatory      2546..2551
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBM23"
                     /gene_synonym="CAPERbeta; PP239; RNPC4"
                     /note="hexamer: TATAAA"
     polyA_site      2566
                     /gene="RBM23"
                     /gene_synonym="CAPERbeta; PP239; RNPC4"
     regulatory      9927..9932
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBM23"
                     /gene_synonym="CAPERbeta; PP239; RNPC4"
                     /note="hexamer: ATTAAA"
     polyA_site      9949
                     /gene="RBM23"
                     /gene_synonym="CAPERbeta; PP239; RNPC4"
     regulatory      9984..9989
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBM23"
                     /gene_synonym="CAPERbeta; PP239; RNPC4"
                     /note="hexamer: AATAAA"
     polyA_site      10007
                     /gene="RBM23"
                     /gene_synonym="CAPERbeta; PP239; RNPC4"
ORIGIN
        1 agagctgccg ccattttgcg ggaagaggag gctctgtacc tgcagtgctg cttttcttgc
       61 ctagactcta ggaactatcc gagctccact ccccacaaca tactcaaagg aacggagaga
      121 accgggaccc ccctgcgggg acccggaact gatctgacag gatggcatct gatgactttg
      181 acatagtgat tgaggccatg ctggaagctc cctataaaaa agaagaggat gagcaacaaa
      241 ggaaagaagt taaaaaggat tatcctagca ataccaccag cagcaccagc aacagtggca
      301 atgagaccag tggaagcagc accatcgggg agacaagcaa gaagaagagg agtcggagcc
      361 ataataaaag cagggataga aagcgcagtc gtagtcgaga tcgggatcgg tatagacgga
      421 gaaatagtcg gagccgaagt ccaggtcggc agtgtcgtca ccgtagccgt agctgggatc
      481 gtcgacatgg tagtgagtcg cgaagtcggg accatcgtcg tgaggatcgt gtgcattaca
      541 ggagtcctcc acttgccact ggttataggt atggacacag taagagtcct catttcagag
      601 agaagagccc agtcagggag ccagttgata atctgagtcc tgaggagcgt gatgcccgca
      661 cagttttctg tatgcagtta gctgcccgaa ttcggcctcg agatctggag gactttttct
      721 ctgctgtagg caaggttcgc gatgtacgta tcatctcaga tcggaactca cgtcgttcta
      781 agggcattgc ctacgtggaa ttctgtgaaa tccagtctgt gccactggcc attgggctga
      841 ctgggcagcg gttgctggga gtgcctatca ttgtacaggc ttcacaggca gagaaaaacc
      901 gactggcagc catggccaac aacctgcaaa agggcaatgg tggaccaatg cgcctctatg
      961 tgggttccct gcacttcaat atcactgaag acatgctccg gggcatcttt gagccctttg
     1021 gtaaaattga taatattgtc ctgatgaagg actcagatac aggccgctct aaaggttatg
     1081 gtttcatcac gttctctgat tctgagtgtg cccggcgggc cctggaacag ttgaatgggt
     1141 ttgagcttgc tggtcgacct atgagggttg gccatgtgac tgagcgactg gatggtggca
     1201 cagacatcac ttttcctgat ggggaccagg agctggatct gggatcagca ggtggacgtt
     1261 ttcagctcat ggcaaaactg gcagaaggcg ctggaatcca actgccaagc actgctgctg
     1321 ctgctgctgc cgccgccgcc caggctgctg ccttgcaact gaatggagca gttcccttgg
     1381 gggccctgaa tccagcagct ctgactgctc tgagtccagc cctgaacctt gcctcccagt
     1441 gtttccagct ctccagcctc tttacccccc agaccatgta aatcagtggc acagtatact
     1501 gcctccttgt gcctctggat cctgccactt cacatctact cttccatggc cccatttctc
     1561 cattttgtgg accaagccat cctgagggca tggacattgt ctctgaggaa attggggcca
     1621 cccttaagat accaagaaaa gctcctgccc atggtcccac tggaaatgga ctctgctgag
     1681 caaagccacc agttgaagag aacagaatcc acacctgcat tgaatacctg tttctccatg
     1741 tgtatcgtct ctgagattac cttcttgccc tttccaacac cttagtgatt cctcaatttc
     1801 tcccccattg ggaaggccat agggcatact gaaggaactg acctctctcc ttttcctgta
     1861 cctttaacct ttagtctgtc aaggaaaacc cttaggacct ctgaatcaag aggactgagt
     1921 ttgtgggtga accttgaagg tgctctttct gctacaaggg ccctgggaga tagcatggac
     1981 gtgcattgag aagccagcct cagaccttag cttgaagcag cttgaggcca gacctactgt
     2041 agcctcagca tcttgctagg aggcatggaa gtgatctatc ctgccaggag gcctcagagt
     2101 gatctgtcct gccaggaggt gtgagagtga tctgtcctgt gaggcattta ggggctttca
     2161 ggaatttagt aaaaggtgga gtatgccttt ccagtatctt ccatcttcct ttgtatactt
     2221 gtccttcctc ccatttcctc cctttggccc gaggtaggag gatggaggga ggctgctact
     2281 ctaccacttc ctgtgtgcct ctactgtggc ctcaaccctg gcaattatag ctactcccat
     2341 cccttacctg ggcatgtgtg agcccttctc actggatttt atacccttgt gtctgtgtac
     2401 ataaatatat atacatatat atatacataa aaactttgta caaaaggcaa gcctcctcct
     2461 tgtggcagct gttgcccatt tgtgtgtggt ctttgttgtg tgtctgacaa cttctcatta
     2521 gcccaactta tgatgtttct agggatataa aacattagta acatcattgt gtttatttat
     2581 ttaaccacct ttagaaagaa aaatgaaaac tcacacctgg gtggggttcc cattctgtat
     2641 ctgcattaca ctgttgatct atggttgtct tctccatcta tcttcatcct aactatctcc
     2701 atcccagcta cccactggac agaattaccc aaacagccaa gttgcagcac caggacagac
     2761 ttagacttaa caggctcctt ctctgtgcct aatgacagat ctttccagca gatggcacta
     2821 tgacagtact gcattctaca cttgtttttt tctagtgggg cggggcgggg aggggggggg
     2881 gttgtgatct tgaagagtta agtaccagag ctaagctgag ctttcttaac tctattggcc
     2941 tttgtacctg cctttgaccc tctttgtagt agcgatccca atccaatatc caaaggggtt
     3001 tgggtcttgt ataacagcag ggttctcctg acctgatgtc tactgttgtt cctctgtcag
     3061 tcccctcaac tcctgctttc catgtggctc tgcctgggat aacacaggcc tgggaccagt
     3121 gaattgtagg gaactgagta ttccagaaat acctctgtga aagggaaggt gcacctacca
     3181 ctgccttaat aataaggggg tgggagagag gctgtctcac ccagcttagg gaccaaatga
     3241 gaaggcctga attcaggggc agggctctgt ggggctcctt ttttgatctc tatggcaaca
     3301 aaatgctaag actttcttat gctaaaaata tggataattg ctgttaggtt ttaatttgtc
     3361 agctctcaga cttctaagcc agtgatgtta gcctctgggg ttgcttttaa cacaaaatca
     3421 tttaaatact tgaagcctgc ttgagtcata aaaggccagt gggactctag ctcctaagtc
     3481 tgtttgctgc ttctgtaaca atagcacaga ctaatttgta aagaaaagag gtgtaggctg
     3541 ggtgcactgg ctcacgcctg taatcccagc actttgggag gccgaggtgg gtggatcacg
     3601 aggtcagttc aagaccagcc tggccaacat ggtgaaactc tgtctctact agaaatacaa
     3661 aaagtagctg ggcatggtgg tgggtgcctg taatcccagc tactcaggag gctgagacag
     3721 gagaatcgct tgagcctggg aggcggaggt tgcagtgagc cgaggatgca ccactgcact
     3781 ccagcctggg caacagagcg agcctccatc tcaaaaaaac agaaaagtgt atttctcaca
     3841 gttctggagg ctgggaattt caagagcatg gtgcctgcat caggtggggg tcatcccatg
     3901 tcagaagggc acaaggtaga aatgagtaca tgagacaaag ggaccatggg ccaaacttgc
     3961 tttataacag ccctctctca tgataacctg ctgtgtgata gtgacattaa tccactcatg
     4021 agggctctgt ccttgtgact cagtcacctc gtattaagcc ccatcttcaa cactgttgca
     4081 ttgggagtca aatttccaat gtgaactttt gggggacaca ttcaaaccac agcatttctg
     4141 attcttccag gcctagatct cacatgatgt tgctgttctc ctggttacca cccccatccc
     4201 ttcccccatc ttatcctagt ttgctttctg gaccggggga aaagggaagg aggatgcact
     4261 atttttaggt agaagctgct ggctatgacc cagcacccct acagttattg atttggcttc
     4321 taatgtatct tgagaagtgc agtgggtacc gtttttgtta gtcatcctga ggccatgaac
     4381 tgggtcttct catggctggc ttggctcctt cagactatta taaatatcca caggccttgc
     4441 ctccctgcct tcctctgctt ggtttcctta tgtttccatc cctagctacc ttggccttcc
     4501 tacactcgga tccttccacc tcagttcttt cttgttctta gttcctcaca tagcctcttg
     4561 ctgggagaga gacaatgttg gaagtaagga cgtatctaag acaatttcca gtcttactcc
     4621 atataaggtg atggtatcta gtgagtgaca gttgctgtcc gtgtgtgact cagtgccttc
     4681 ttgttactca tccctccata cgaggtggtt agagtggaga gaagcgggct gtgaacagac
     4741 tctgggccca gcttaaggta aaagaaactt ccctcaacat ctacctgcac atggtggctg
     4801 gtggcgtagg ggtgacattg tgatctagat cctttgccag catagttaga atttccctac
     4861 cagtcttcag ttctagaaaa gattctcacc tgatttttga cttccagtct atgcttctgt
     4921 attcactaag gtggcagcat ttcctccctg ttctttaaac tgctgtgctc ttgacacagg
     4981 aattctgcct gcttcctcag actcccaaca acccccagat aggagttacc agtagaagca
     5041 gaggcttgac ctgtgaactt ttagtcctgg agcatatcat gaagggaatt gagtaaaaac
     5101 ctgaaggatg gaattatatc acagtccctc ttttccgtgt aatggaaagg ctttagtgaa
     5161 aatcaggcag caacacttgg acagtgaaaa gagactctga aaggtgaggt gacaggaggt
     5221 ggcataatgg tcattgttaa catttatgca aggttggttg taggttaggt gttctaatcg
     5281 tgtattaagt cacaaaatcc tcacaacaat cctctcaagt agtttattat ctttactttg
     5341 taaacaagga aacatatcca aataagttaa ataattttcc ccataagcac aaagttagca
     5401 agttagggat tccaatccaa gtactctcgc ttcagatccc ttgatcttaa ccttacctgc
     5461 ctctcagcac caccatggaa gacaaggcct tggagtcagt gaggaagtgt cacttttcct
     5521 atccctgtac ccatagctct ccgtagactc agaatttttc cactgccatg tctttgctta
     5581 tcttgagtga cagtgtttgt gggtgaacct tgaaggtgct ctttctgcta caagggccct
     5641 gggagatagc atgggcatgt gcattgagaa gccagcctca gaccttatct tgaagcagct
     5701 tgaggccaga cctactgtag gctcagcatc ttgctaggag gcatgggagt gatctaacct
     5761 gccagctatc tctcttcctt tcctccttct gctgatcaaa gtcctgtcct ttaagaccct
     5821 gaagctttcc taggtggagt tgatctctct tttcagtatt ctttgtcctc ttgtgggtca
     5881 tcttactcta cttttattta gtaaataaaa taattgcaat aaaaattatt ttattgaaaa
     5941 ctccattact tgatggttac agcctgatga ggccagactt ggatgtcttt ctcatgattg
     6001 ctttgccttg cacatattaa atgtctgtag aattgaatga atgctgttca ttaaagtgtt
     6061 aaagtcagca ccaggctttc caaaggctgc cccttctagg ctgcttttcc cagcagcctc
     6121 atccattcct tcctcactcc accaggagag aagatgcagc tttactcttt ctgatgttac
     6181 catggtagcc tgtgatactt tctttctaaa gtgctgcttg ccatccacca gagactgatg
     6241 tttccatggc aaccaggtga aggcaatagt cacgagctgg atgcaggaaa ggaattccgg
     6301 tctgagaagc tgcatatctg aatcttctag cttcagacat cctttcccct ctctcataac
     6361 ttttgcgctt tatatccagg actggtttgc tctctggtgt gcccttggtt gagagagctc
     6421 tgtgaaagtg aggtgaagca gaccaaccaa cttagatcac gtgggaaggt gggtgcaagg
     6481 aaagagctga gcaaagatca cttcaaaaag ttggatgaag tctattagtt gttcagatga
     6541 tctgctctca agagccctta aggagttggc tggagtttct ggagagccat taagcagtta
     6601 tttttgagag caatgggtag atggatgagg tgcctgaaga ctggaaagca gccagtcagt
     6661 gccggattgt agaaaggaga aacaatgacc ttggaaatcg gagacccgtc aaacttgcca
     6721 atgttccaga aaggatggga gtttcagtca gctttcaggc atcaggaagc ctacttgctt
     6781 agaattagtg gtgctaagaa ttcgcctcct caactcctga gcataagcaa gctaggggac
     6841 ctccaccctg tagccgagtg tcacactctg gaaccacaca gcatggttca gatccctctt
     6901 ccctcacaaa ctagctgaat aagcttgggt aggttacttc acttctctca cacttcatct
     6961 gtaaaaagga aatgataaca cctatctcat agggatgttg tgagaattca ttgagaaagg
     7021 tttggaactt ggctcattac tgtcctcagt attttcactc ctctggatgc ctactcactt
     7081 gattttctag ctgacttcat tctccccaac tttagagctc aaggtttatg gggaaaagca
     7141 agggcagtgc aatggtgaaa ataaatcttc atttttaaat aaataaattg ttcctgcact
     7201 gaagccccaa gcttacaagg tcttgggtca cacacaacct gcctagtttt caggaaaaca
     7261 gatcccacta gcccaatctc tttatgcttg aggctctgtc cacatagtta gattttaacc
     7321 agatggtttc gaaaaatcaa aatgagcccc cctcacaggt accttcaagg tacctaacac
     7381 cattagcttt gtctggcagg ggaaaaatac cagggcactc agttttgttt tgttttgaga
     7441 cagggtctgg ctctgttgcc catgctggag tacagtggtg ccatcacagc tcactgcagt
     7501 ctcaacctcc tgagctcaaa tgatcctctt gattagctgg aactacaggt atgtgccact
     7561 atgcccagct aagttttgta ttttttgtag agatggggtc ttgctatgtt gcccaggtgg
     7621 tcttgaactc ctgggcttaa gtgatcctcc ctccttagcc tcccaaagtg ctaggattat
     7681 aggtgtgagc caccacaact gcctgagagc accctctgtt accacccttt ccttagcgtc
     7741 tcagcctccc ccaagcacct gtctttgttg gtctccagag cctagcccta cactggcatt
     7801 ttcctttctg aataagtatt ttttttattt atttattttt attttttctt tgagatggag
     7861 tttcgctttt gttgcccagg ctggagtgca atggtgcgat ctcggctcac cgcaacctct
     7921 gcttcctggg ttcaagtgat tctcctgcct cagcctcctg agtagctggg attacaggcg
     7981 tgcgccacca ctcccagcta attttgtatt tttagtggag acagggtttc tccatgttgg
     8041 tcaggctggt ctcgaactcc tgacctcagg tgatccaccc gccttggcct cccaaagtgc
     8101 tgggattaca gtcctgagcc actgcactgg gccttattta tttattttta attaattaat
     8161 taattttttt tgagatggag tcttgctttg tcgcccaggc tggagtgcag tggcgcaatc
     8221 tcgggtcact gcaagctctg cctcccaggt tcatgccatt ctcctgcctc agcctcccaa
     8281 gtagctggga ctacaggcac ctgccactat gcccggctaa ttttttgtat tttttagtag
     8341 agatggggtt tcactgtttt agccaggatg gtttcgatct cctgacctag tgatccgctc
     8401 gcctcggcct cccagagtgc tgggattaca ggcgtgagcc actgcgcccg gctgggcctt
     8461 atttatgtat ttttctgaga cagagtctca tgctatcacc caggctggag tgcagtggca
     8521 tgatctctgc tcactgcgat ctctgctcac ttcaacctct gcttcccggg ttcaagtgat
     8581 tctcccacct cagcctcccg agtagctgga attacaggca cccaccacca tgcctggcta
     8641 atttttgtaa ttttttttag tagaaatagg gtttcaccat gttggccagg ctggtctctc
     8701 tcttgacctc aagtgatcca cccacctcgg cctcccaaag tgctgggatt acaggcgtga
     8761 gccaattgcc cgacctgagt aagtatttta aatcagcaca ggtcctctgc ttaaagtcaa
     8821 gttgtaattt gaacacaaaa atggaaaatc atgcagtaaa ataccatcgt ggagcttcaa
     8881 ttgccaatct gtcccccaac cttccatcag atgacaaaac ccaaaaaagt gttacccgtg
     8941 agtcctatgg aaggcacgtt ggactttgta gaccataact taaattttta tctccaaatg
     9001 gtgctgtgct ttgagagttt agcaagctgc tttgatgcct aaataaaggg ccaggacata
     9061 ggttgcaaaa ggcattacta cttccaccgc ttctctgtat aatgcttgag aaattacaaa
     9121 gatctttgct cttttattta gtcctcatga cttcgctata aggtaggtat tcttcatttt
     9181 agagttggga tagcatagct gagttcagca aaccagacag gttaagagtg acttcatcca
     9241 cagaccccca tccaggaaac atcctgagca ctaattgaaa agcattcaag ggcttactga
     9301 atttgcattc acatctggag ttttcaaggc cactaagctg tggaaacttg acatcaatat
     9361 tcaaatagat gaaaagggac cttaagcata tccatcaggg agtcaccgag atgataaagg
     9421 cctgagaagc agtatgctct tgtccggcat ttgtgtcctt tgacgactgc accatccacc
     9481 caaattttgc tgccttcttt ataggaaggg ccttttcctc atgtggtggg ctgcccactg
     9541 tttcttctct gtgcatttgc tcatgtagtt tgaccacaag gaatgctttt ccttctttct
     9601 ctcaactatc tatagcctac atatccttta aggcccagtt tctaaaatat gtcttccaaa
     9661 tttactgttt cttccattca gaattcctgg agcacatgag gtagccccca gttagataga
     9721 atgtggtatt gtttgctgct attttgcctg ttttgtgctg tatcacctca tccatctccc
     9781 cagcttaatt gcaagctatt tgacgggcag aaattgtgtc ttatttgtat ttgttttccc
     9841 cattgggccc ggcacactga ttggcatatt gcagatgttt agtacttgag agaaacaaaa
     9901 tgtcttctag catttgtgga tgaaagatta aaatgtccag gaaaatttac ttagattgat
     9961 gtggattgaa actatattag attaataaaa agatgtgtgt gtgtgaa
//
LOCUS       NM_001077365            3057 bp    mRNA    linear   PRI 17-MAR-2023
DEFINITION  Homo sapiens protein O-mannosyltransferase 1 (POMT1), transcript
            variant 2, mRNA.
ACCESSION   NM_001077365
VERSION     NM_001077365.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3057)
  AUTHORS   Gan S, Yang H, Xiao T, Pan Z and Wu L.
  TITLE     POMT1 and POMT2 gene mutations result in 2 cases of
            alpha-dystroglycanopathy
  JOURNAL   Zhong Nan Da Xue Xue Bao Yi Xue Ban 46 (8), 915-919 (2021)
   PUBMED   34565739
  REMARK    GeneRIF: POMT1 and POMT2 gene mutations result in 2 cases of
            alpha-dystroglycanopathy.', trans 'POMT1POMT22alpha-.
REFERENCE   2  (bases 1 to 3057)
  AUTHORS   Vuorela A, Freitag TL, Leskinen K, Pessa H, Harkonen T, Stracenski
            I, Kirjavainen T, Olsen P, Saarenpaa-Heikkila O, Ilonen J, Knip M,
            Vaheri A, Partinen M, Saavalainen P, Meri S and Vaarala O.
  TITLE     Enhanced influenza A H1N1 T cell epitope recognition and
            cross-reactivity to protein-O-mannosyltransferase 1 in
            Pandemrix-associated narcolepsy type 1
  JOURNAL   Nat Commun 12 (1), 2283 (2021)
   PUBMED   33863907
  REMARK    GeneRIF: Enhanced influenza A H1N1 T cell epitope recognition and
            cross-reactivity to protein-O-mannosyltransferase 1 in
            Pandemrix-associated narcolepsy type 1. Publication Status:
            Online-Only
REFERENCE   3  (bases 1 to 3057)
  AUTHORS   Hu P, Yuan L and Deng H.
  TITLE     Molecular genetics of the POMT1-related muscular
            dystrophy-dystroglycanopathies
  JOURNAL   Mutat Res Rev Mutat Res 778, 45-50 (2018)
   PUBMED   30454682
  REMARK    GeneRIF: In this review, we highlight the present knowledge of the
            identified disease-associated POMT1 gene mutations and genetic
            animal models related to the POMT1 gene. Review article
REFERENCE   4  (bases 1 to 3057)
  AUTHORS   Chen C, Mei S, Zhu C, Ren Y and Kong X.
  TITLE     [Analysis of POMT1 gene mutation in a pedigree affected with
            congenital muscular dystrophy]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 35 (1), 78-80 (2018)
   PUBMED   29419866
  REMARK    GeneRIF: The child was found to carry a heterozygous missense
            mutation c.1939G>A (p.Ala647Thr) in exon 19 of the
            protein-O-mannosyltransferase 1 (POMT1) gene inherited from the
            mother and a heterozygous frameshift mutation c.2141delG
            (p.Trp714Ter) in exon 20 inherited from the father.
REFERENCE   5  (bases 1 to 3057)
  AUTHORS   Sabatelli P, Columbaro M, Mura I, Capanni C, Lattanzi G, Maraldi NM,
            Beltran-Valero de Barnabe D, van Bokoven H, Squarzoni S and Merlini
            L.
  TITLE     Extracellular matrix and nuclear abnormalities in skeletal muscle of
            a patient with Walker-Warburg syndrome caused by POMT1 mutation
  JOURNAL   Biochim Biophys Acta 1638 (1), 57-62 (2003)
   PUBMED   12757935
  REMARK    GeneRIF: Extracellular matrix and nuclear abnormalities in skeletal
            muscle of a patient with Walker-Warburg syndrome caused by POMT1
            mutation.
REFERENCE   6  (bases 1 to 3057)
  AUTHORS   Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J, van
            Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D,
            Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van
            Bokhoven H and Brunner HG.
  TITLE     Mutations in the O-mannosyltransferase gene POMT1 give rise to the
            severe neuronal migration disorder Walker-Warburg syndrome
  JOURNAL   Am J Hum Genet 71 (5), 1033-1043 (2002)
   PUBMED   12369018
  REMARK    GeneRIF: Mutations in the O-mannosyltransferase gene POMT1 give rise
            to the severe neuronal migration disorder Walker-Warburg syndrome
REFERENCE   7  (bases 1 to 3057)
  AUTHORS   Jurado LA, Coloma A and Cruces J.
  TITLE     Identification of a human homolog of the Drosophila rotated abdomen
            gene (POMT1) encoding a putative protein O-mannosyl-transferase, and
            assignment to human chromosome 9q34.1
  JOURNAL   Genomics 58 (2), 171-180 (1999)
   PUBMED   10366449
REFERENCE   8  (bases 1 to 3057)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301582
REFERENCE   9  (bases 1 to 3057)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301552
REFERENCE   10  (bases 1 to 3057)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301468
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.43787.1, HM005680.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000402686.8/ ENSP00000385797.4
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL358781.19.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001077365.1.
            Summary: The protein encoded by this gene is an
            O-mannosyltransferase that requires interaction with the product of
            the POMT2 gene for enzymatic function. The encoded protein is found
            in the membrane of the endoplasmic reticulum. Defects in this gene
            are a cause of Walker-Warburg syndrome (WWS) and limb-girdle
            muscular dystrophy type 2K (LGMD2K). Several transcript variants
            encoding different isoforms have been found for this gene.[provided
            by RefSeq, Oct 2008].
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3057
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.13"
     gene            1..3057
                     /gene="POMT1"
                     /gene_synonym="LGMD2K; LGMDR11; MDDGA1; MDDGB1; MDDGC1; RT"
                     /note="protein O-mannosyltransferase 1"
                     /db_xref="GeneID:10585"
                     /db_xref="HGNC:HGNC:9202"
                     /db_xref="MIM:607423"
     CDS             187..2364
                     /gene="POMT1"
                     /gene_synonym="LGMD2K; LGMDR11; MDDGA1; MDDGB1; MDDGC1; RT"
                     /EC_number="2.4.1.109"
                     /note="isoform b is encoded by transcript variant 2;
                     protein O-mannosyl-transferase 1;
                     dolichyl-phosphate-mannose--protein mannosyltransferase 1;
                     testis tissue sperm-binding protein Li 57p"
                     /codon_start=1
                     /product="protein O-mannosyl-transferase 1 isoform b"
                     /protein_id="NP_001070833.1"
                     /db_xref="CCDS:CCDS43894.1"
                     /db_xref="GeneID:10585"
                     /db_xref="HGNC:HGNC:9202"
                     /db_xref="MIM:607423"
                     /translation="MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEV
                     YYGQYISFYMKQIFFLDDSGPPFGHMVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSL
                     RLLPALAGALSVPMAYQIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLIFFN
                     LLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHA
                     WHLLGDQTLSNVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSSAFQ
                     ASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQ
                     QVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAPL
                     SPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSG
                     AHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRN
                     LSFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIV
                     IWVSGSLALAIYALLSLWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLM
                     EKTLFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHVSNTL
                     RPLTYGDKSLSPHELKALRWKDSWDILIRKH"
     regulatory      3036..3041
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POMT1"
                     /gene_synonym="LGMD2K; LGMDR11; MDDGA1; MDDGB1; MDDGC1; RT"
                     /note="hexamer: ATTAAA"
     polyA_site      3057
                     /gene="POMT1"
                     /gene_synonym="LGMD2K; LGMDR11; MDDGA1; MDDGB1; MDDGC1; RT"
                     /note="major polyA site"
ORIGIN
        1 gtctggcccc gcaggctcgg tgaatcgaac gttgagcagg gcggtgggtg gtgcggagtg
       61 ccgagcggcc tcacccccaa ccgtcggccc agtcggacgg ttccgaggcg ttgccgggag
      121 ccgggcgcgg ctctgtgtgg actcggagaa acgcggggcg tctgcctgag cccgcttttc
      181 tacaagatgt ggggattttt gaagcgccct gtagtggtga cggctgacat caacttgagc
      241 cttgtggccc tgactgggat ggggttactg agccggctgt ggcgactcac ctacccgcgg
      301 gctgtggttt ttgacgaagt atattatggg cagtacatct ctttttacat gaaacaaatc
      361 ttcttcttgg atgacagtgg gccgccattt ggccacatgg tgctggcctt gggaggttat
      421 ttaggaggat tcgatggcaa ttttttgtgg aacagaattg gagcagaata cagtagcaac
      481 gtgcctgtgt ggtccctgcg cctgctgcca gcactcgcgg gggccttgtc ggtccccatg
      541 gcctaccaga tagtgttgga gctccacttt tctcattgtg ccgccatggg agctgctctg
      601 ttgatgctta tcgagaatgc tctcatcact cagtcaaggc taatgctttt ggaatcagtg
      661 ttaatatttt tcaatctatt ggccgtgttg tcctacctga agttcttcaa ctgccaaaag
      721 cacagccctt tttctctgag ctggtggttc tggctaacac tgacaggggt cgcttgttcc
      781 tgtgcagtgg gcatcaagta catgggtgtg ttcacgtacg tgctcgtgct gggtgttgca
      841 gctgtccatg cctggcacct gcttggagac cagactttgt ccaatgtctg tgtgttctgt
      901 cacttgctcg cccgagcagt ggctttgctg gtcatcccgg tcgtcctgta cttactgttc
      961 ttctacgtcc acttgattct agtcttccgc tctgggcccc acgaccaaat catgtccagt
     1021 gccttccagg ccagcttaga gggaggacta gctcggatca ctcagggtca gccactggag
     1081 gtggcctttg ggtcccaggt cactctgagg aacgtctttg ggaaacctgt gccctgctgg
     1141 cttcattccc accaggacac ctaccccatg atatatgaga acggccgagg cagctcccac
     1201 cagcaacagg tgacctgtta ccccttcaaa gatgtcaata actggtggat tgtaaaggat
     1261 cccaggaggc accagctggt ggtgagcagc cctccgagac ctgtgaggca cggggacatg
     1321 gtgcagctgg tccacggcat gaccacccgc tccctgaaca cgcatgatgt tgcagccccc
     1381 ctgagccccc attcacagga ggtctcctgc tacattgact ataacatctc catgcccgcc
     1441 cagaacctct ggagactgga aattgtgaac agaggatctg acacagacgt ctggaagacc
     1501 atcctctcag aggtccgctt tgtgcacgtg aacacttccg ctgtcttaaa gctgagcggg
     1561 gctcacctcc ctgactgggg gtatcggcaa ctggagatcg tcggggagaa gctgtcccgg
     1621 ggctaccacg ggagcacggt gtggaacgtg gaggagcacc gatacggcgc gagccaggag
     1681 cagagggagc gggaacggga gctgcactca cctgcgcagg tggacgtcag caggaacctc
     1741 agcttcatgg cgagattctc ggagctgcag tggaggatgc tggcgctgag aagtgatgac
     1801 tcggaacaca agtacagctc cagcccactg gagtgggtca ccctggacac caatattgcc
     1861 tactggctgc accccaggac cagcgctcag atccacctac ttggaaacat agtgatctgg
     1921 gtttcgggca gcctcgctct ggccatctac gccctgctgt ccttgtggta cctgctccga
     1981 cggcgaagaa atgtccatga cctccctcag gatgcctggc tgcgctgggt gctggctggg
     2041 gcgctgtgtg ccggtggctg ggcagtgaac tacctcccgt tcttcctgat ggagaagaca
     2101 ctcttcctct accactacct gcccgcactc accttccaaa tccttctgct ccctgtggtc
     2161 ctgcagcaca tcagcgacca cctgtgcagg tcccagctcc agaggagcat cttcagcgcc
     2221 ctggtggtgg cctggtactc ctccgcgtgc cacgtgtcca acacgctgcg cccactcacc
     2281 tacggggaca agtcactctc gccacatgaa ctcaaggccc ttcgctggaa agacagctgg
     2341 gacatcttga tccgaaaaca ctagaacaag agtgtggcaa agaacacccg tgctggggtc
     2401 gggatgaggt tgaagggtct tggtcaatgt acgtaatgag cagggtgggc cccacgctgg
     2461 gaggacacgg gctgggctga gcagggcctc tagtggaaca catgggggtc tcattgaaaa
     2521 gctctctgat gagcacctcc ttttgtgcaa agttaatttt ttctcgacaa taaagatatt
     2581 ccgtgtcttt acccctgaac taagacacag ggagtatttc agaggccagc gtaggagtca
     2641 ttgacaacaa aaagccgaga acccagggcc agcagtggag cctcagcaga ccagggcctg
     2701 gtccttgcta actgctgcag ggtggagttt gatctggcag acccgatcct ccttcatgaa
     2761 cacccagcaa cctgagcaag tcccggccct gccctcagcg agcccggcag gcgtcctggg
     2821 acagctcagt gttggagggc cacctgaacc acgagccagg gctggggctt gcatgtcatt
     2881 gtctatgaca gcgtcaagac tggcccttgg caccgtgctg tgtggaaacc ctcccctctg
     2941 agactccact gagacgtggc tgagtgaaat cttcctcgtc agtggtcaag gtgtgtcatc
     3001 catacagctc catgcctttg tcttttttaa atgtaattaa aaaaggaacc aactggc
//
LOCUS       NM_001077415            2196 bp    mRNA    linear   PRI 10-APR-2023
DEFINITION  Homo sapiens cysteine rich with EGF like domains 1 (CRELD1),
            transcript variant 3, mRNA.
ACCESSION   NM_001077415
VERSION     NM_001077415.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2196)
  AUTHORS   Pinnaro CT, Beck CB, Major HJ and Darbro BW.
  TITLE     CRELD1 variants are associated with bicuspid aortic valve in Turner
            syndrome
  JOURNAL   Hum Genet 142 (4), 523-530 (2023)
   PUBMED   36929416
  REMARK    GeneRIF: CRELD1 variants are associated with bicuspid aortic valve
            in Turner syndrome.
REFERENCE   2  (bases 1 to 2196)
  AUTHORS   D'Alessandro M, Richard M, Stigloher C, Gache V, Boulin T, Richmond
            JE and Bessereau JL.
  TITLE     CRELD1 is an evolutionarily-conserved maturational enhancer of
            ionotropic acetylcholine receptors
  JOURNAL   Elife 7, e39649 (2018)
   PUBMED   30407909
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2196)
  AUTHORS   Asim A, Agarwal S, Panigrahi I, Sarangi AN, Muthuswamy S and Kapoor
            A.
  TITLE     CRELD1 gene variants and atrioventricular septal defects in Down
            syndrome
  JOURNAL   Gene 641, 180-185 (2018)
   PUBMED   29054759
  REMARK    GeneRIF: The CRELD1 gene is likely to have a major role in causation
            of AVSD phenotype in selected DS patients.
REFERENCE   4  (bases 1 to 2196)
  AUTHORS   Naba A, Pearce OMT, Del Rosario A, Ma D, Ding H, Rajeeve V, Cutillas
            PR, Balkwill FR and Hynes RO.
  TITLE     Characterization of the Extracellular Matrix of Normal and Diseased
            Tissues Using Proteomics
  JOURNAL   J Proteome Res 16 (8), 3083-3091 (2017)
   PUBMED   28675934
REFERENCE   5  (bases 1 to 2196)
  AUTHORS   Alcantara-Ortigoza MA, De Rubens-Figueroa J, Reyna-Fabian ME,
            Estandia-Ortega B, Gonzalez-del Angel A, Molina-Alvarez B,
            Velazquez-Aragon JA, Villagomez-Martinez S, Pereira-Lopez GI,
            Martinez-Cruz V, Alvarez-Gomez RM and Diaz-Garcia L.
  TITLE     Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a
            Mexican sample of Down syndrome patients with endocardial cushion
            and septal heart defects
  JOURNAL   Pediatr Cardiol 36 (4), 802-808 (2015)
   PUBMED   25524324
  REMARK    GeneRIF: Germline mutations in the NKX2-5, GATA4, and CRELD1 genes
            do not appear to be associated with CHD in Mexican DS patients.
            Erratum:[Pediatr Cardiol. 2015 Oct;36(7):1551. PMID: 26205256]
REFERENCE   6  (bases 1 to 2196)
  AUTHORS   Sarkozy,A., Esposito,G., Conti,E., Digilio,M.C., Marino,B.,
            Calabro,R., Pizzuti,A. and Dallapiccola,B.
  TITLE     CRELD1 and GATA4 gene analysis in patients with nonsyndromic
            atrioventricular canal defects
  JOURNAL   Am J Med Genet A 139 (3), 236-238 (2005)
   PUBMED   16278904
REFERENCE   7  (bases 1 to 2196)
  AUTHORS   Zatyka,M., Priestley,M., Ladusans,E.J., Fryer,A.E., Mason,J.,
            Latif,F. and Maher,E.R.
  TITLE     Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect
            locus (AVSD2)
  JOURNAL   Clin Genet 67 (6), 526-528 (2005)
   PUBMED   15857420
REFERENCE   8  (bases 1 to 2196)
  AUTHORS   Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD
            and Maslen CL.
  TITLE     Missense mutations in CRELD1 are associated with cardiac
            atrioventricular septal defects
  JOURNAL   Am J Hum Genet 72 (4), 1047-1052 (2003)
   PUBMED   12632326
  REMARK    GeneRIF: Missense mutations in this protein are associated with
            cardiac atrioventricular septal defects.
REFERENCE   9  (bases 1 to 2196)
  AUTHORS   Rupp PA, Fouad GT, Egelston CA, Reifsteck CA, Olson SB, Knosp WM,
            Glanville RW, Thornburg KL, Robinson SW and Maslen CL.
  TITLE     Identification, genomic organization and mRNA expression of CRELD1,
            the founding member of a unique family of matricellular proteins
  JOURNAL   Gene 293 (1-2), 47-57 (2002)
   PUBMED   12137942
REFERENCE   10  (bases 1 to 2196)
  AUTHORS   Green EK, Priestley MD, Waters J, Maliszewska C, Latif F and Maher
            ER.
  TITLE     Detailed mapping of a congenital heart disease gene in chromosome
            3p25
  JOURNAL   J Med Genet 37 (8), 581-587 (2000)
   PUBMED   10922384
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.220143.1, SRR3476690.65.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000452070.6/ ENSP00000393643.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018809.5.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001077415.2.
            Summary: This gene encodes a member of a subfamily of epidermal
            growth factor-related proteins. The encoded protein is
            characterized by a cysteine-rich with epidermal growth factor-like
            domain. This protein may function as a cell adhesion molecule.
            Mutations in this gene are the cause of atrioventricular septal
            defect. Alternate splicing results in multiple transcript
            variants.[provided by RefSeq, Apr 2010].
            Transcript Variant: This variant (3) lacks an exon in the 3' coding
            region, which results in a frameshift, compared to variant 1. The
            resulting protein (isoform 2) is shorter and has a distinct
            C-terminus, compared to isoform 1. Variants 2, 3, and 4 all encode
            the same isoform (2).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2196
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..2196
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
                     /note="cysteine rich with EGF like domains 1"
                     /db_xref="GeneID:78987"
                     /db_xref="HGNC:HGNC:14630"
                     /db_xref="MIM:607170"
     CDS             107..1369
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
                     /EC_number="5.3.4.1"
                     /note="isoform 2 precursor is encoded by transcript variant
                     3; protein disulfide isomerase CRELD1"
                     /codon_start=1
                     /product="protein disulfide isomerase CRELD1 isoform 2
                     precursor"
                     /protein_id="NP_001070883.2"
                     /db_xref="CCDS:CCDS2593.1"
                     /db_xref="GeneID:78987"
                     /db_xref="HGNC:HGNC:14630"
                     /db_xref="MIM:607170"
                     /translation="MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHP
                     CHTCRGLVDSFNKGLERTIRDNFGGGNTAWEEENLSKYKDSETRLVEVLEGVCSKSDFE
                     CHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTERPC
                     GGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPCARCS
                     GPEESNCLQCKKGWALHHLKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGC
                     MGAGPGRCKKCSPGYQQVGSKCLDVDECETEVCPGENKQCENTEGGYRCICAEGYKQME
                     GICVKEQIPESAGFFSEMTEDELVVLQQMFFGIIICALATLAAKGDLVFTAIFIGAVAA
                     MTGYWLSERSDRVLEGFIKGR"
     sig_peptide     107..193
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     194..1366
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
                     /product="protein disulfide isomerase CRELD1 isoform 2"
     misc_feature    242..253
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96HD1.3);
                     Region: CXXC. /evidence=ECO:0000250|UniProtKB:Q19267"
     misc_feature    341..343
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96HD1.3); glycosylation site"
     misc_feature    719..721
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q96HD1.3); glycosylation site"
     misc_feature    728..874
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96HD1.3);
                     Region: FU 1"
     misc_feature    908..1051
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96HD1.3);
                     Region: FU 2"
     misc_feature    938..949
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96HD1.3);
                     Region: CXXC. /evidence=ECO:0000250|UniProtKB:Q9CYA0"
     misc_feature    1193..1255
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96HD1.3);
                     transmembrane region"
     misc_feature    1259..1321
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96HD1.3);
                     transmembrane region"
     regulatory      1799..1804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
                     /note="hexamer: AAGAAA"
     polyA_site      1822
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
                     /note="major polyA site"
     regulatory      2159..2164
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
                     /note="hexamer: AATAAA"
     polyA_site      2196
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN"
ORIGIN
        1 aggctgtggc agcgacgcgg tgaggagacg gcccacggcg cccgcgggct ggggcggtcg
       61 cttcttcctt ctccgtggcc tacgagggtc cccagcctgg gtaaagatgg ccccatggcc
      121 cccgaagggc ctagtcccag ctatgctctg gggcctcagc ctcttcctca acctcccagg
      181 acctatctgg ctccagccct ctccacctcc ccagtcttct cccccgcctc agccccatcc
      241 gtgtcatacc tgccggggac tggttgacag ctttaacaag ggcctggaga gaaccatccg
      301 ggacaacttt ggaggtggaa acactgcctg ggaggaagag aatttgtcca aatacaaaga
      361 cagtgagacc cgcctggtag aggtgctgga gggtgtgtgc agcaagtcag acttcgagtg
      421 ccaccgcctg ctggagctga gtgaggagct ggtggagagc tggtggtttc acaagcagca
      481 ggaggccccg gacctcttcc agtggctgtg ctcagattcc ctgaagctct gctgccccgc
      541 aggcaccttc gggccctcct gccttccctg tcctggggga acagagaggc cctgcggtgg
      601 ctacgggcag tgtgaaggag aagggacacg agggggcagc gggcactgtg actgccaagc
      661 cggctacggg ggtgaggcct gtggccagtg tggccttggc tactttgagg cagaacgcaa
      721 cgccagccat ctggtatgtt cggcttgttt tggcccctgt gcccgatgct caggacctga
      781 ggaatcaaac tgtttgcaat gcaagaaggg ctgggccctg catcacctca agtgtgtaga
      841 cattgatgag tgtggcacag agggagccaa ctgtggagct gaccaattct gcgtgaacac
      901 tgagggctcc tatgagtgcc gagactgtgc caaggcctgc ctaggctgca tgggggcagg
      961 gccaggtcgc tgtaagaagt gtagccctgg ctatcagcag gtgggctcca agtgtctcga
     1021 tgtggatgag tgtgagacag aggtgtgtcc gggagagaac aagcagtgtg aaaacaccga
     1081 gggcggttat cgctgcatct gtgccgaggg ctacaagcag atggaaggca tctgtgtgaa
     1141 ggagcagatc ccagagtcag caggcttctt ctcagagatg acagaagacg agttggtggt
     1201 gctgcagcag atgttctttg gcatcatcat ctgtgcactg gccacgctgg ctgctaaggg
     1261 cgacttggtg ttcaccgcca tcttcattgg ggctgtggcg gccatgactg gctactggtt
     1321 gtcagagcgc agtgaccgtg tgctggaggg cttcatcaag ggcagataat cgcggccacc
     1381 acctgtagga cctcctccca cccacgctgc ccccagagct tgggctgccc tcctgctgga
     1441 cactcaggac agcttggttt atttttgaga gtggggtaag cacccctacc tgccttacag
     1501 agcagcccag gtacccaggc ccgggcagac aaggcccctg gggtaaaaag tagccctgaa
     1561 ggtggatacc atgagctctt cacctggcgg ggactggcag gcttcacaat gtgtgaattt
     1621 caaaagtttt tccttaatgg tggctgctag agctttggcc cctgcttagg attaggtggt
     1681 cctcacaggg gtggggccat cacagctccc tcctgccagc tgcatgctgc cagttcctgt
     1741 tctgtgttca ccacatcccc acaccccatt gccacttatt tattcatctc aggaaataaa
     1801 gaaaggtctt ggaaagttaa aaggcatcag tcttactacc tgtcccacca cccccacctt
     1861 agggaaatgt cctagaatcc tgggaaattg agggcttctt tgatggtgag tggagaaaag
     1921 atagaggaga aggttgcccc tgaagtgctg ttaggagaag gaggatagag gaatcagcct
     1981 taggagggtt ccatgccagc tgtcatttgg caaaggaccc tggacagatg acttttgcct
     2041 ctgaacttca ctcttctctt tcctcaaatg ggcttcataa tgctttccac tcaggcttaa
     2101 catgagaatt aaatgaggtg acaaatgtga agacctggac agtacacaac agatattcaa
     2161 taaaagtgtg gtcgccatta tgaccagagc ctccaa
//
LOCUS       NM_001077418            4247 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens transmembrane protein 231 (TMEM231), transcript variant
            2, mRNA.
ACCESSION   NM_001077418
VERSION     NM_001077418.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4247)
  AUTHORS   Watson CM, Dean P, Camm N, Bates J, Carr IM, Gardiner CA and
            Bonthron DT.
  TITLE     Long-read nanopore sequencing resolves a TMEM231 gene conversion
            event causing Meckel-Gruber syndrome
  JOURNAL   Hum Mutat 41 (2), 525-531 (2020)
   PUBMED   31663672
  REMARK    GeneRIF: Long-read nanopore sequencing resolves a TMEM231 gene
            conversion event causing Meckel-Gruber syndrome.
REFERENCE   2  (bases 1 to 4247)
  AUTHORS   Maglic D, Stephen J, Malicdan MC, Guo J, Fischer R, Konzman D,
            Mullikin JC, Gahl WA, Vilboux T and Gunay-Aygun M.
  CONSRTM   NISC Comparative Sequencing Program
  TITLE     TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber
            Syndromes in the Same Family
  JOURNAL   Hum Mutat 37 (11), 1144-1148 (2016)
   PUBMED   27449316
  REMARK    GeneRIF: Results identified a rare gene conversion event in TMEM231,
            leading to loss of exon 4, which in combination with c.712G>A
            missense mutation caused Joubert syndrome and in combination with
            c.334T>G missense mutation caused Meckel-Gruber syndrome.
REFERENCE   3  (bases 1 to 4247)
  AUTHORS   Lambacher NJ, Bruel AL, van Dam TJ, Szymanska K, Slaats GG, Kuhns S,
            McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L,
            Doummar D, Riviere JB, Faivre L, Attie-Bitach T, Saunier S, Curd A,
            Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C and
            Blacque OE.
  TITLE     TMEM107 recruits ciliopathy proteins to subdomains of the ciliary
            transition zone and causes Joubert syndrome
  JOURNAL   Nat Cell Biol 18 (1), 122-131 (2016)
   PUBMED   26595381
REFERENCE   4  (bases 1 to 4247)
  AUTHORS   Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C,
            Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A,
            Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, Katsanis N, Davis
            EE, Attie-Bitach T, Hildebrandt F, Leroux MR and Reiter JF.
  TITLE     TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes
            the ciliary transition zone
  JOURNAL   J Cell Biol 209 (1), 129-142 (2015)
   PUBMED   25869670
  REMARK    GeneRIF: Tmem231 is critical for organizing the Meckel syndrome
            complex and controlling ciliary composition, defects in which cause
            OFD3 and MKS.
REFERENCE   5  (bases 1 to 4247)
  AUTHORS   Shaheen R, Ansari S, Mardawi EA, Alshammari MJ and Alkuraya FS.
  TITLE     Mutations in TMEM231 cause Meckel-Gruber syndrome
  JOURNAL   J Med Genet 50 (3), 160-162 (2013)
   PUBMED   23349226
  REMARK    GeneRIF: TMEM231 represents a novel MKS locus. The very recent
            identification of TMEM231 mutations in Joubert syndrome supports the
            growing appreciation of the overlap in the molecular pathogenesis
            between these two ciliopathies.
REFERENCE   6  (bases 1 to 4247)
  AUTHORS   Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell
            MI, Desilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C,
            Labuda D, Amrom D, Andermann E, Sebire G, Maranda B, Rouleau GA,
            Majewski J and Michaud JL.
  CONSRTM   FORGE Canada Consortium
  TITLE     Mutations in TMEM231 cause Joubert syndrome in French Canadians
  JOURNAL   J Med Genet 49 (10), 636-641 (2012)
   PUBMED   23012439
  REMARK    GeneRIF: mutations in TMEM231 cause JBTS, reinforcing the
            relationship between this condition and the disruption of the
            barrier at the ciliary transition zone.
REFERENCE   7  (bases 1 to 4247)
  AUTHORS   Chih B, Liu P, Chinn Y, Chalouni C, Komuves LG, Hass PE, Sandoval W
            and Peterson AS.
  TITLE     A ciliopathy complex at the transition zone protects the cilia as a
            privileged membrane domain
  JOURNAL   Nat Cell Biol 14 (1), 61-72 (2011)
   PUBMED   22179047
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 4247)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   9  (bases 1 to 4247)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301743
REFERENCE   10  (bases 1 to 4247)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301500
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.205418.1,
            SRR1803617.192315.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000258173.11/ ENSP00000258173.5
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK025820.1, AC009163.6 and
            BC016401.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001077418.2.
            Summary: This gene encodes a transmembrane protein, which is a
            component of the B9 complex involved in the formation of the
            diffusion barrier between the cilia and plasma membrane. Mutations
            in this gene cause Joubert syndrome (JBTS). Multiple alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Jan 2013].
            Transcript Variant: This variant (2) uses an alternate splice
            junction in the 5' coding region which causes translation
            initiation at an alternate start codon compared to variant 1. The
            encoded isoform (2) is shorter than isoform 1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4247
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q23.1"
     gene            1..4247
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="transmembrane protein 231"
                     /db_xref="GeneID:79583"
                     /db_xref="HGNC:HGNC:37234"
                     /db_xref="MIM:614949"
     CDS             44..994
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="transmembrane protein 231 isoform 2"
                     /protein_id="NP_001070886.1"
                     /db_xref="CCDS:CCDS45530.1"
                     /db_xref="GeneID:79583"
                     /db_xref="HGNC:HGNC:37234"
                     /db_xref="MIM:614949"
                     /translation="MALYELFSHPVERSYRAGLCSKAALFLLLAAALTYIPPLLVAFRS
                     HGFWLKRSSYEEQPTVRFQHQVLLVALLGPESDGFLAWSTFPAFNRLQGDRLRVPLVST
                     REEDRNQDGKTDMLHFKLELPLQSTEHVLGVQLILTFSYRLHRMATLVMQSMAFLQSSF
                     PVPGSQLYVNGDLRLQQKQPLSCGGLDARYNISVINGTSPFAYDYDLTHIVAAYQERNV
                     TTVLNDPNPIWLVGRAADAPFVINAIIRYPVEVISYQPGFWEMVKFAWVQYVSILLIFL
                     WVFERIKIFVFQNQVVTTIPVTVTPRGDLCKEHLS"
     misc_feature    110..172
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6L2.1);
                     transmembrane region"
     misc_feature    623..625
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9H6L2.1); glycosylation site"
     misc_feature    638..640
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9H6L2.1); glycosylation site"
     misc_feature    704..706
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q9H6L2.1); glycosylation site"
     misc_feature    827..889
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H6L2.1);
                     transmembrane region"
     regulatory      2665..2670
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="hexamer: ATTAAA"
     polyA_site      2684
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="major polyA site"
     regulatory      2847..2852
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="hexamer: AATAAA"
     polyA_site      2866
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
     regulatory      4226..4231
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
                     /note="hexamer: TATAAA"
     polyA_site      4247
                     /gene="TMEM231"
                     /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886"
ORIGIN
        1 aaacttggtc ccccggctcg cggagtgcct gcgagcggtg ctcatggcgc tctatgagct
       61 cttctctcac ccggtcgagc gcagttaccg cgcggggctc tgctccaaag ccgcgctgtt
      121 cctgctgctg gccgctgcgc tcacgtacat cccgccgctg ctggtggcct tccggagcca
      181 cgggttttgg ctgaagcgga gcagctacga ggagcagccg accgtgcgct tccaacacca
      241 ggtgctgctc gtggccctgc tcggacccga aagcgacggg ttcctcgcct ggagcacgtt
      301 ccccgccttc aaccggctgc aaggggatcg cctgcgcgtc ccgctcgttt cgactagaga
      361 agaagacagg aaccaggatg ggaagacgga catgttacat tttaagctgg agcttcccct
      421 gcagtccacg gagcacgttc tcggtgtgca gctcatcctg actttctcct atcgattaca
      481 caggatggcg accctcgtga tgcagagcat ggcgtttctc cagtcctcct ttcctgtccc
      541 gggatcccag ttatacgtga acggagacct gaggctgcag cagaagcagc cgctgagctg
      601 tggtggccta gatgcccgat acaacatatc cgtgatcaac gggaccagcc cctttgccta
      661 tgactacgac ctcacccata ttgttgctgc ctaccaggag aggaacgtta ccaccgtcct
      721 gaatgatccc aaccccatct ggctggtggg cagggccgca gatgctccat ttgtgattaa
      781 tgctatcatc cgataccctg tggaagtcat ttcttatcag ccaggattct gggagatggt
      841 aaagttcgcc tgggtgcagt atgtcagcat cctgcttatc ttcctctggg tgtttgaaag
      901 aatcaagatc ttcgtgtttc agaatcaggt ggtgaccacc attcctgtga cagtgacgcc
      961 ccggggagac ttgtgtaagg agcacttatc ctagaaaggc catttctgaa gactcagcag
     1021 gaccgtggct gcctcattgt catcttctgg gaacatctta ggaccttttg aaagagccca
     1081 gcggacacct gcgggcttgt gtgcttttcc ctcagagaca acggttcttt ccggttttgc
     1141 tctacacagt tccgtatctt cagagctcct gcagaattgt cagggactag tttgtggaaa
     1201 ggtctgagag ttcctggagg ctataattag ctttttgggt tttccttctt tgccttagcg
     1261 ttgaatttca ggagaaaatt gcagtcagtt cagacatctt ggaaagagtc ccatctctgg
     1321 tcaagcagag acttttcctc tgttgaactg aggaacacac tgtgcatttc taccttctgt
     1381 tgtgagccac tcttactctt ttcagggctc tcttgtgaca aacatgccaa tcactagcac
     1441 tttgcacccc tgggcttctc catttcccat tcacagcttt gatttccaga gctgaggcct
     1501 ttaactggag acctggaggg gcagggccca agggcaaggg ccgcattagc acaggcaatc
     1561 agggagggcc gctgaaggac acttggaccg tccacctgcc ccagcccaac agtcagtcat
     1621 ctgtcatcag ctcagctgag cagccctgga tctttgccgt actgtgactg ggctctttgc
     1681 cctatttttc cctctgtctg tgcccctgga tggcaggctg aagtcagagg ggctgtttca
     1741 ttctcagccc cctcagcagc actgggggaa gaaagcattg tcacaacagg ttctttctgg
     1801 ccctcaccca acagcctggg cacttggccc tcctcctcct tgacagccct cccccttcct
     1861 gcaaaggaca ggggcgacag gggttggtgt tgggattggc tcccgctgcc tgacaaccac
     1921 aagtttattt ggaaggctag cgggaagccc agcggctggc gtttcccttg actaaggaac
     1981 agggtgccca tcagagtggg gcgggcagct ttgggaagga cacaagaagc agtaagagtg
     2041 taaagaggat gctggcctgg gcaggccagt ccagcctggc cactagcaga ataccaagca
     2101 gtccagtgga ttaccctcgt ggctaagcaa gtgtctgcag gagcagagat ggctggaagg
     2161 ggcctctgca cacggaagat ggcttgttca gcccattcac ctcctgagga tgtgggcagt
     2221 ctcctccaag aacacatgga gctgcttcct gatcccaagc aggtcattgc cactggaagg
     2281 acatggcccc ggtgatccat gcttcatgcc cacccagaaa cacacccctc agtgtgtgcc
     2341 tcagtttact ttggagatca gttgtcgttt ttagtgctcc tttaggctta ctaaaacagt
     2401 tttggaaaca aagctatttt gaagtattca agcagaggaa ttccctaaca ctgaccccct
     2461 tgtctttttt taatattcag gctgttttat atgcctaaat ttttttctta agatctaaac
     2521 gaaaaatagt ttcttgttta aattcacata aggcaatgag atatggaaag atgacaagat
     2581 acgtataaac attggtttgc attttattaa attattctaa tgcaaatctt gtataaagaa
     2641 cccatgatgt tttgtaactt tctaattaaa atgttcaaaa tgaggccgag catggtggtt
     2701 cattcctgta atctcaacac tttgggaggc caaggtggga ggatcacttg agcccaggag
     2761 cttgaggctg cagtgtgcta tgattgcacc actgtactgt agcctgggtg acagagtgag
     2821 accctatctg ttaaaataaa taaataaata aataaaaaag tcaaaatgga agatcacatg
     2881 tacctttttc gagggaaagg gtttggaatg gcaaagaata gggagggcag aggttgcaca
     2941 cacctgtctt tattactcat ctacagccat gctttacaag gctctgccta acgaccttgg
     3001 aacttccatg aggtctttgg tgaaagtccc ctagttcttc cccaggtaga tgagttttca
     3061 gtgggattca catgccatgt gaaatctacg tgttggataa ttatgactgt gtctggtgaa
     3121 tatgaaatta tttacagacc agatgttgat agtttctgac tctgaatcac agcatagctg
     3181 caagaggtaa ataaaaagca agaggccggg agcggtggct cacgcctgta atcccagcac
     3241 tttgggaggc cgaggtgggt gaatcacaag gtcaggagat cgagaccatc ctggccaaca
     3301 tggtgaaacc ccatctccac taaaaataca aaaattggct gggtgtggcg acacgtgcct
     3361 gtcatcccaa ctatttagta ggctgaggca ggagaatcgc ttgaaccctg gaggcggagg
     3421 ttgcagtgag ccgagattgc gccactgcac tccagcctgg caacagagct agactccgtc
     3481 tcaaaaaaaa aaaaaaaaag aaatatagag gattttatta actcagctcc gacccatagc
     3541 taagttaagg tttgatgtta ttactgaata tttggaggca gaaagactcc tgattttgcc
     3601 aaatgattag tacagtttcg gcttaagtca gatgaggccc ccctaatatt ccatcatgta
     3661 aggctaataa agcaattatt tctttttttt ttttccttcc aacttttatt gtagactcat
     3721 ggggtatatg tatgggtttc gtatatagct aaattgtaca acctgggggt ttggtgtaca
     3781 gattatttca tcacccacgt aataagcata gtacccagta ggtggttttt cttttctttt
     3841 tctttttctt tttttttttt ttttttgaga cagagtctca ctctgttacc caggctggag
     3901 tgcagcagca tgatctcagc tcattgcagc ctctacctcc caggttcaag tgattctcct
     3961 gccttaccct cccgagtagc tgggattacg ggtgcccacc accatgcccg gctaattttt
     4021 gtgtttttag tagagacagg gcttcaccct ggtggtcagg ctggtctcga actcctgacc
     4081 tcaagtgatc catccgcttt ggccacccaa agtgctggga tcacagcagt ttgatcacag
     4141 aagttattat ggttggcatt ctggcacaca tctttctaat cttttttgtt gtatgtaacc
     4201 tttttagtat cacaaacaac acttttataa accttgtgta gaaatca
//
LOCUS       NM_001077446            2160 bp    mRNA    linear   PRI 12-MAR-2023
DEFINITION  Homo sapiens tRNA splicing endonuclease subunit 34 (TSEN34),
            transcript variant 2, mRNA.
ACCESSION   NM_001077446
VERSION     NM_001077446.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2160)
  AUTHORS   Bierhals T, Korenke GC, Uyanik G and Kutsche K.
  TITLE     Pontocerebellar hypoplasia type 2 and TSEN2: review of the
            literature and two novel mutations
  JOURNAL   Eur J Med Genet 56 (6), 325-330 (2013)
   PUBMED   23562994
  REMARK    Review article
REFERENCE   2  (bases 1 to 2160)
  AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and
            Butte NF.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   3  (bases 1 to 2160)
  AUTHORS   Budde BS, Namavar Y, Barth PG, Poll-The BT, Nurnberg G, Becker C,
            van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van
            der Knaap MS, Hohne W, Toliat MR, Crow YJ, Steinling M, Voit T,
            Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E,
            Hammersen G, Willemsen M, Basel-Vanagaite L, Krageloh-Mann I, de
            Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC,
            Grillo E, Beemer FA, Stoets LM, Wollnik B, Nurnberg P and Baas F.
  TITLE     tRNA splicing endonuclease mutations cause pontocerebellar
            hypoplasia
  JOURNAL   Nat Genet 40 (9), 1113-1118 (2008)
   PUBMED   18711368
REFERENCE   4  (bases 1 to 2160)
  AUTHORS   Paushkin SV, Patel M, Furia BS, Peltz SW and Trotta CR.
  TITLE     Identification of a human endonuclease complex reveals a link
            between tRNA splicing and pre-mRNA 3' end formation
  JOURNAL   Cell 117 (3), 311-321 (2004)
   PUBMED   15109492
REFERENCE   5  (bases 1 to 2160)
  AUTHORS   Wende H, Volz A and Ziegler A.
  TITLE     Extensive gene duplications and a large inversion characterize the
            human leukocyte receptor cluster
  JOURNAL   Immunogenetics 51 (8-9), 703-713 (2000)
   PUBMED   10941842
  REMARK    Erratum:[Immunogenetics 2001;52(3-4):308]
REFERENCE   6  (bases 1 to 2160)
  AUTHORS   van Dijk,T. and Baas,F.
  TITLE     TSEN54 Pontocerebellar Hypoplasia
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301773
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.166534.1, BC020805.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000396388.3/ ENSP00000379671.2
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN256589.1, AK226013.1,
            AK054944.1 and AC245052.3.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001077446.3.
            Summary: This gene encodes a catalytic subunit of the tRNA splicing
            endonuclease, which catalyzes the removal of introns from precursor
            tRNAs. The endonuclease complex is also associated with a pre-mRNA
            3-prime end processing factor. A mutation in this gene results in
            the neurological disorder pontocerebellar hypoplasia type 2.
            Multiple alternatively spliced variants, encoding the same protein,
            have been identified.[provided by RefSeq, Oct 2009].
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1, 2, and 3 encode the same isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2160
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..2160
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
                     /note="tRNA splicing endonuclease subunit 34"
                     /db_xref="GeneID:79042"
                     /db_xref="HGNC:HGNC:15506"
                     /db_xref="MIM:608754"
     CDS             58..990
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
                     /EC_number="4.6.1.16"
                     /note="isoform 1 is encoded by transcript variant 2;
                     leukocyte receptor cluster (LRC) member 5; tRNA-splicing
                     endonuclease subunit Sen34; CTD-3093M3.1; tRNA-intron
                     endonuclease Sen34; leukocyte receptor cluster member 5;
                     TSEN34 tRNA splicing endonuclease subunit"
                     /codon_start=1
                     /product="tRNA-splicing endonuclease subunit Sen34 isoform
                     1"
                     /protein_id="NP_001070914.1"
                     /db_xref="CCDS:CCDS42609.1"
                     /db_xref="GeneID:79042"
                     /db_xref="HGNC:HGNC:15506"
                     /db_xref="MIM:608754"
                     /translation="MLVVEVANGRSLVWGAEAVQALRERLGVGGRTVGALPRGPRQNSR
                     LGLPLLLMPEEARLLAEIGAVTLVSAPRPDSRHHSLALTSFKRQQEESFQEQSALAAEA
                     RETRRQELLEKITEGQAAKKQKLEQASGASSSQEAGSSQAAKEDETSDGQASGEQEEAG
                     PSSSQAGPSNGVAPLPRSALLVQLATARPRPVKARPLDWRVQSKDWPHAGRPAHELRYS
                     IYRDLWERGFFLSAAGKFGGDFLVYPGDPLRFHAHYIAQCWAPEDTIPLQDLVAAGRLG
                     TSVRKTLLLCSPQPDGKVVYTSLQWASLQ"
     misc_feature    412..588
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BSV6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1272..1277
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
                     /note="hexamer: AATAAA"
     polyA_site      1294
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
                     /note="major polyA site"
     regulatory      2140..2145
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
                     /note="hexamer: ATTACA"
     polyA_site      2160
                     /gene="TSEN34"
                     /gene_synonym="LENG5; PCH2C; SEN34; SEN34L"
ORIGIN
        1 ggtccgcggc gcgcagctgt ttcggtaact gctttgcctc ccggctcccg caggaggatg
       61 ctggtggtgg aggtggcgaa cggccgctcc ctggtgtggg gagccgaggc ggtgcaggcc
      121 ctccgggagc gcctgggtgt ggggggccgc acggtaggcg ccctgccccg cgggccccgc
      181 cagaactcgc gcctgggcct cccgctgctg ctgatgcccg aagaggcgcg gctcttggcc
      241 gagatcggcg ccgtgactct ggtcagcgcc ccgcgtccag actctcggca ccacagcctg
      301 gccctgacat ccttcaagcg ccagcaagag gagagcttcc aggagcagag cgccttggca
      361 gctgaggccc gggagacccg tcgtcaggag ctcctggaga agattacgga gggccaggct
      421 gctaagaagc agaaactaga acaggcttca ggggccagct caagccagga ggccggctcg
      481 agccaggctg ccaaagagga tgagaccagt gatggccagg cttcgggaga gcaggaggaa
      541 gctggcccct cgtcttccca agcaggaccc tcaaatgggg tagccccctt gcccagatct
      601 gctctccttg tccagctggc cactgccagg cctcgaccgg tcaaggccag gcccctggac
      661 tggcgtgtcc agtctaaaga ctggccccac gccggccgcc ctgcccacga gctgcgctac
      721 agtatctaca gagacctgtg ggagcgaggc ttcttcctca gtgcggctgg caagttcgga
      781 ggtgacttcc tggtctatcc tggtgacccc ctccgcttcc acgcccatta tatcgctcag
      841 tgctgggccc ctgaggacac catcccactc caagacctgg ttgctgctgg gcgccttgga
      901 accagcgtca gaaagaccct gctcctctgt tctccgcagc ctgatggtaa ggtggtctac
      961 acctccctgc aatgggccag cctgcagtga actccagaga cctaggggat gtggctgtgt
     1021 cggcagcaag agcctttctg gatgttcccc agctcttctc tgggagtcta gaacatcctc
     1081 ctacctttct ccgcggttag tttttgattc caggttttcg aacactacat cttttttatg
     1141 ttcttccttg tttcaaagca cttattggct gtgtttttgt agttacctat tttcacactg
     1201 tgagcttccc gagaatgggg cctgggtttg attcatctgt tttctacagg gtttaagtct
     1261 caggaggtct caataaactt ggtatataaa tgttcatgat ttgaatgttt gcgacagtcc
     1321 tggaacccgt ggatggtctc atctgcatgt acaggtgaga aaaaggcctg gaggaggggg
     1381 actgacttgc ccaaagtcac acacttagta aatagcaggc ctggcctttc aaaattggtt
     1441 tttctgactc ctaaatctgc actctttcta cctcactaaa cttccttttg aaaagatttc
     1501 tatgaaattt cccagatgca tacaaacgtt ataaataaaa atataggctg ggcacgatga
     1561 cccacacctg taatcccaca gaacttttgg aggccaaggc agggggatcg cttgagccca
     1621 ggagtttgag accagctctg gcaacattgt aatacccagt ctctacaaaa aataatttaa
     1681 aaaaaaatta gccagggatc ccttgagcct gggaagttga ggctgctgtg agctgtgatt
     1741 gcaccactgc cctccagcct gggagacaga gcaagaacct gtctcaaaaa atatatatat
     1801 gtgtgtgtgt atatatgtaa atatacacac atgtatgtat atatatgtgt gtgtatatat
     1861 atatatatta tgaaaggaaa tgagtattgt aattttagga gttcagagcc tggggagaaa
     1921 ggaaggactc tggaaggcgt tctgcttttt catggcctgg gtagtggtga atttttttga
     1981 tactgtatat ttatatttta gactcttttt tggatgtgtt atattctgca atttttataa
     2041 aagctaaaac acatgtattt gtaaaaaatt tgcacttatg aaatcattta cccatgtttt
     2101 tgcttaagaa agtactagaa cactaccact attccaataa ttacaccttt atcttatcaa
//
LOCUS       NM_001077498            4128 bp    mRNA    linear   PRI 26-DEC-2022
DEFINITION  Homo sapiens family with sequence similarity 222 member B (FAM222B),
            transcript variant 1, mRNA.
ACCESSION   NM_001077498
VERSION     NM_001077498.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4128)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 4128)
  AUTHORS   Spiegler S, Kirchmaier B, Rath M, Korenke GC, Tetzlaff F, van de
            Vorst M, Neveling K, Acker-Palmer A, Kuss AW, Gilissen C, Fischer A,
            Schulte-Merker S and Felbor U.
  TITLE     FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous
            Malformations
  JOURNAL   Mol Syndromol 7 (3), 144-152 (2016)
   PUBMED   27587990
REFERENCE   3  (bases 1 to 4128)
  AUTHORS   Wang AG, Yoon SY, Oh JH, Jeon YJ, Kim M, Kim JM, Byun SS, Yang JO,
            Kim JH, Kim DG, Yeom YI, Yoo HS, Kim YS and Kim NS.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.149768.1,
            SRR1803612.131232.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000581407.6/ ENSP00000462419.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK057665.1, BC021228.2 and AC010761.10.
            On Jun 2, 2019 this sequence version replaced NM_001077498.2.
            Transcript Variant: This variant (1) differs in the 5' UTR, lacks
            an exon in the 5' coding region and initiates translation at an
            alternate start codon, compared to variant 3. Variants 1, 2, 4, 5,
            6, and 7 encode the same isoform (2), which is shorter and has a
            distinct N-terminus, compared to isoform 1.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4128
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..4128
                     /gene="FAM222B"
                     /gene_synonym="C17orf63"
                     /note="family with sequence similarity 222 member B"
                     /db_xref="GeneID:55731"
                     /db_xref="HGNC:HGNC:25563"
     misc_feature    135..137
                     /gene="FAM222B"
                     /gene_synonym="C17orf63"
                     /note="upstream in-frame stop codon"
     CDS             150..1838
                     /gene="FAM222B"
                     /gene_synonym="C17orf63"
                     /note="isoform 2 is encoded by transcript variant 1;
                     uncharacterized protein C17orf63; protein FAM222B"
                     /codon_start=1
                     /product="protein FAM222B isoform 2"
                     /protein_id="NP_001070966.1"
                     /db_xref="CCDS:CCDS45637.1"
                     /db_xref="GeneID:55731"
                     /db_xref="HGNC:HGNC:25563"
                     /translation="MLACLPGPGDLSFQLLSHTQMNTGLQKWDTTQKMRTAHYPTPAEL
                     DAYAKKVANNPLTIKIFPNSVKVPQRKHVRRTVNGLDTSAQRYSPYPTQAATKAGLLAI
                     VKVPAKSILKDFDGTRARLLPEAIMNPPVAPYATVAPSTLAHPQAQALARQQALQHAQT
                     LAHAPPQTLQHPQGIPPPQALSHPQSLQQPQGLGHPQPMAQTQGLVHPQALAHQGLQHP
                     HNPLLHGGRKMPDSDAPPNVTVSTSTIPLSMAATLQHSQPPDLSSIVHQINQFCQTRAG
                     ISTTSVCEGQIANPSPISRSLLINASTRVSTHSVPTPMPSCVVNPMEHTHAATAALPAA
                     GPVNLPTGISRVPTGYPSDLKPVTWNQHQLAHLQQMCSEASGTPAPGLTGKHAAGRELA
                     GPGFVGKAPAYPQELCLAQSFHLKPPLEKPTPSPPVNGMAAPLAYPNGHYFQPLWNNIL
                     PTPNSDSSGSQDLAMPFHGGQPTGAPLDCAAAPGAHYRAGTGGGPVASQNSLMQTVDYL
                     SGDFQQACFREQSLAMLSKAHRAPGNRAPDPTESRSLHIQHPGYR"
     misc_feature    612..758
                     /gene="FAM222B"
                     /gene_synonym="C17orf63"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WU58.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    804..884
                     /gene="FAM222B"
                     /gene_synonym="C17orf63"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WU58.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1758..1835
                     /gene="FAM222B"
                     /gene_synonym="C17orf63"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WU58.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      3367..3372
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM222B"
                     /gene_synonym="C17orf63"
                     /note="hexamer: AAGAAA"
     polyA_site      3402
                     /gene="FAM222B"
                     /gene_synonym="C17orf63"
                     /note="major polyA site"
     regulatory      4109..4114
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM222B"
                     /gene_synonym="C17orf63"
                     /note="hexamer: AGTAAA"
     polyA_site      4128
                     /gene="FAM222B"
                     /gene_synonym="C17orf63"
                     /note="major polyA site"
ORIGIN
        1 agtccccaca gctgcgccgg tgactgaggg gccgggcagt ggagaagtgg tggcggcggg
       61 cggcgggcgg caaaggagca gccatgaggg ccgggcccag tcaccgacct gtgagccact
      121 gccccatgtt gtgttgatgc caatctgcca tgctagcctg tctaccaggg ccaggtgacc
      181 tgtcctttca gcttctttct cacacgcaga tgaacactgg acttcagaaa tgggacacta
      241 cacagaaaat gagaactgct cactatccta ccccagccga attggatgcg tatgctaaga
      301 aggtcgcaaa caacccactg actataaaaa tcttccccaa cagtgtgaag gttccccagc
      361 ggaaacacgt tcgtcgtact gtgaacggcc tcgacacatc agcccagcgc tacagcccct
      421 acccgacaca ggctgccacc aaggcaggcc tgcttgccat tgtcaaagtg ccagccaaaa
      481 gcatactcaa ggactttgac ggcacccgag cccggttgct ccctgaggcc atcatgaacc
      541 ccccagtggc accctatgct actgtggcac ccagcacttt agcccacccc caggcccagg
      601 ctctggcccg ccagcaggcc ctgcagcatg cacagaccct ggcccatgcc cctccccaga
      661 cgctgcagca ccctcagggt atcccgccac cccaggcact gtcccaccct cagagcctcc
      721 agcagcctca gggcctgggc caccctcagc ccatggccca aacccagggc ttggtccacc
      781 ctcaggccct ggctcaccag ggtctccagc acccccacaa tcccttgctg catggaggcc
      841 ggaagatgcc agactcagat gcccccccga atgtgaccgt gtctacctca actatccccc
      901 tttcaatggc ggccactctg cagcacagcc agcctccgga cctgagtagc atcgtgcacc
      961 agatcaacca gttttgccag acgagggcag gcatcagcac tacctcagtg tgtgagggcc
     1021 agatcgccaa ccccagcccc attagtcgca gtctgctcat caatgcaagc acccgggtgt
     1081 cgacccacag cgtccccaca ccaatgcctt catgtgtggt caatcccatg gagcacaccc
     1141 acgcggccac cgccgcgttg cctgctgcag gtcctgtcaa cctgcccaca ggcatctctc
     1201 gcgtccccac tggctaccct agcgacctca agccagtcac ctggaaccag caccagctgg
     1261 cccacctaca gcagatgtgc agcgaggcta gtgggacgcc agcccctggc ctgacaggca
     1321 agcatgcggc aggacgcgag ttggcagggc ctggctttgt gggcaaggcc cctgcctacc
     1381 cgcaggaact ctgcctggcg cagtccttcc atctgaagcc acccctggaa aagccgaccc
     1441 catccccacc agtcaacggc atggcagccc cattggccta ccccaatggt cactacttcc
     1501 aacccctgtg gaacaacatt ctgcccactc ccaatagcga cagctcgggg tctcaggacc
     1561 ttgccatgcc gttccacggt gggcagccca caggtgcacc cctcgactgt gcggcagctc
     1621 ccggggccca ctaccgagca gggaccgggg gcggtccagt ggcaagccag aacagcttga
     1681 tgcaaacagt ggattaccta agtggggatt tccaacaggc ctgcttccga gaacagagcc
     1741 tggccatgct gagcaaggcc caccgagccc ctggcaaccg agcccccgat cccacagaga
     1801 gtcgaagtct tcatattcag cacccagggt atagataggt agccctgctg ccctccacgt
     1861 gcaacacatc atacatcacc ctcctaggtt tagtctttta agtaactgga tagtttcaaa
     1921 gtttcactgc tccagtgtga tcattcttag atgtctaaga aagggaattt ggtgggatct
     1981 aagtggggac agaaggggtc ctctcgtcct cccctccagc aacttttggt tttatgttag
     2041 aacctaaccc taagcccagg cttttctctc cactgactgc ctgtcagcta gtctctccac
     2101 cttggccatt tccagccagc tcccacccat cttttcttga atctcttcct gtttccctta
     2161 ggacgactga ggtgtgggct gacggaatgc cctagttgag gtagtatagg tgctcaggcc
     2221 cctaatccag acctctacct gttgctaccc cccttcccct ccctccagga ctaagaagca
     2281 agatttccca ggtgctctga aagctaatta cttactcatc gaaggatctc aaatcaaagc
     2341 tgacccagtc ttcatatcct tcaagttcct ttccattcct caaggctttg ttttgtgtct
     2401 atattgatcc cacagccact gcacttgccc ttgccacact tgatctcaag ggcatcttgg
     2461 aagtatttga ccatttcttg agatatgggg ggaaaaagtc tttgtattgg catcttggtt
     2521 ccagactccc ctttccaaac ctagaaaaat acagtgacct ttgagcatac ccaagatccc
     2581 tttctcactg ttgcctgtcc cctaactcac ctccccacag cccctatcct ttccccctca
     2641 acaaaaacaa aatctacctt acttgaggaa ttaggtaggt aaggaatgat cacattggag
     2701 tttgggatta aaaacaccaa aaaaaaaaaa atgcatttgg ttctctctac actggctaag
     2761 aatattgctc tacactgtaa gttttaaacg ttacgtttct gtatgaatgt agtgtgggtt
     2821 tgagtagcat tgtgtgtgag tggccccaca ggtacattca ccctctagtg cagcccctca
     2881 gtttaatgaa ggaaaaaaaa acaaacacaa agccttaagc tctttgagta cttcctttac
     2941 caaatgagca tggttctaac acctggagct gggcctacat tggaaacaag cccctcctgc
     3001 cctctgtcca ttcttagagc ataccttcat ccactccatg ctcagcacgt ctcatcccaa
     3061 gcgacaatta gttggctaga aacacttttc tgtaatttta aacttagact gttttgttac
     3121 aaatttttgc accattctgt taaagatgca gaattgggct tttttatttt ttacagatga
     3181 aataagccct tacctttcct cttgtctctg gggaatgtca gctgatggtt cttatttaag
     3241 gttttgcatt ttgttcacta tccactactg ttcgttagcc agaaattctc tagtgatctg
     3301 aagcaatgtg actgaagacc agttttaagt tatgtgttgg caagttgcct tatatttaaa
     3361 aggaaaaaga aaaaaaaaaa agcctgattg tgttatgcca aatgatagca acatgaagtc
     3421 ctaatttatt gttcccaatt gttttcctgc cgtctgtgaa cactggtacc tccctgtcct
     3481 gatcccccag gagcacctgt agcttctgac tcaatgcctt ctccgaaggt gttggccgcc
     3541 atctcaccca gggccctctt ccagttcctg cttttctgag tcagatttaa agagcaccac
     3601 tgtcttcccc ctaccccttg cttgatctcc aaagcagata ttcttgctgt attttttttt
     3661 cctccccaat acctctccct gaaaggtgag ctgctatttt aggaaactgg accagacacc
     3721 aacttggggg ctttaagtca aacaacctca aacccatctc ttcctgtgta ggggtgcaag
     3781 cctctgaagc tctcactccc acccttagtc tgcatggaaa atgtactgtg atccccctgc
     3841 ccccaactgc cctcgccttt ggtgtgagat gttccttctt tcggagttca gcctgagtcc
     3901 ctctcccctc tgccagccaa cccccagcca gcaataaggg tccaagccag ggcctcctct
     3961 ccacactccc tgtctccatc ctacactacc ctagggaata cctggattcc ccattctatc
     4021 cacatactgt agcattcatt ctccatctct ctcacctcac ctgtggtggt ttatgggtgt
     4081 gatggggttt ttaagattat tataaaccag taaaaataag aaaacctc
//
LOCUS       NM_001077506             718 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens tachykinin precursor 4 (TAC4), transcript variant
            alpha-2, mRNA.
ACCESSION   NM_001077506
VERSION     NM_001077506.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 718)
  CONSRTM   COVID-19 Host Genetics Initiative
  TITLE     Mapping the human genetic architecture of COVID-19
  JOURNAL   Nature 600 (7889), 472-477 (2021)
   PUBMED   34237774
REFERENCE   2  (bases 1 to 718)
  AUTHORS   Nishimori N, Toyoshima S, Sasaki-Sakamoto T, Hayama K, Terui T and
            Okayama Y.
  TITLE     Serum level of hemokinin-1 is significantly lower in patients with
            chronic spontaneous urticaria than in healthy subjects
  JOURNAL   Allergol Int 70 (4), 480-488 (2021)
   PUBMED   34090787
  REMARK    GeneRIF: Serum level of hemokinin-1 is significantly lower in
            patients with chronic spontaneous urticaria than in healthy
            subjects.
REFERENCE   3  (bases 1 to 718)
  AUTHORS   Dai L, Perera DS, Burcher E and Liu L.
  TITLE     Hemokinin-1 and substance P stimulate production of inflammatory
            cytokines and chemokines in human colonic mucosa via both NK1 and
            NK2 tachykinin receptors
  JOURNAL   Neuropeptides 82, 102061 (2020)
   PUBMED   32600668
  REMARK    GeneRIF: Hemokinin-1 and substance P stimulate production of
            inflammatory cytokines and chemokines in human colonic mucosa via
            both NK1 and NK2 tachykinin receptors.
REFERENCE   4  (bases 1 to 718)
  AUTHORS   Gonzalez-Santana A, Marrero-Hernandez S, Dorta I, Hernandez M, Pinto
            FM, Baez D, Bello AR, Candenas L and Almeida TA.
  TITLE     Altered expression of the tachykinins substance P/neurokinin
            A/hemokinin-1 and their preferred neurokinin 1/neurokinin 2
            receptors in uterine leiomyomata
  JOURNAL   Fertil Steril 106 (6), 1521-1529 (2016)
   PUBMED   27456549
  REMARK    GeneRIF: Expression substance P/neurokinin A/hemokinin-1 and their
            preferred neurokinin 1/neurokinin 2 receptors are dysregulated in
            uterine leiomyomata.
REFERENCE   5  (bases 1 to 718)
  AUTHORS   Zhang Y, Li X, Li J, Hu H, Miao X, Song X, Yang W, Zeng Q, Mou L and
            Wang R.
  TITLE     Human hemokinin-1 promotes migration of melanoma cells and increases
            MMP-2 and MT1-MMP expression by activating tumor cell NK1 receptors
  JOURNAL   Peptides 83, 8-15 (2016)
   PUBMED   27458061
  REMARK    GeneRIF: Kinase activation led to increased MMP-2 and MT1-MMP
            expression and melanoma cell migration induced by hHK-1. Thus, hHK-1
            and the NK1 receptor are critical to melanoma cell migration and
            each may be a promising chemotherapeutic target
REFERENCE   6  (bases 1 to 718)
  AUTHORS   Page NM.
  TITLE     Hemokinins and endokinins
  JOURNAL   Cell Mol Life Sci 61 (13), 1652-1663 (2004)
   PUBMED   15224188
  REMARK    Review article
REFERENCE   7  (bases 1 to 718)
  AUTHORS   Page NM, Bell NJ, Gardiner SM, Manyonda IT, Brayley KJ, Strange PG
            and Lowry PJ.
  TITLE     Characterization of the endokinins: human tachykinins with
            cardiovascular activity
  JOURNAL   Proc Natl Acad Sci U S A 100 (10), 6245-6250 (2003)
   PUBMED   12716968
REFERENCE   8  (bases 1 to 718)
  AUTHORS   Kurtz MM, Wang R, Clements MK, Cascieri MA, Austin CP, Cunningham
            BR, Chicchi GG and Liu Q.
  TITLE     Identification, localization and receptor characterization of novel
            mammalian substance P-like peptides
  JOURNAL   Gene 296 (1-2), 205-212 (2002)
   PUBMED   12383518
REFERENCE   9  (bases 1 to 718)
  AUTHORS   Bellucci F, Carini F, Catalani C, Cucchi P, Lecci A, Meini S,
            Patacchini R, Quartara L, Ricci R, Tramontana M, Giuliani S and
            Maggi CA.
  TITLE     Pharmacological profile of the novel mammalian tachykinin, hemokinin
            1
  JOURNAL   Br J Pharmacol 135 (1), 266-274 (2002)
   PUBMED   11786503
REFERENCE   10  (bases 1 to 718)
  AUTHORS   Zhang Y, Lu L, Furlonger C, Wu GE and Paige CJ.
  TITLE     Hemokinin is a hematopoietic-specific tachykinin that regulates B
            lymphopoiesis
  JOURNAL   Nat Immunol 1 (5), 392-397 (2000)
   PUBMED   11062498
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AY471574.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA2142363
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
            variant(s)
            MANE Ensembl match          :: ENST00000436235.6/ ENSP00000399702.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC027801.10.
            This sequence is a reference standard in the RefSeqGene project.
            On Apr 21, 2021 this sequence version replaced NM_001077506.1.
            Summary: This gene is a member of the tachykinin family of
            neurotransmitter-encoding genes. Tachykinin proteins are cleaved
            into small, secreted peptides that activate members of a family of
            receptor proteins. The products of this gene preferentially
            activate tachykinin receptor 1, and are thought to regulate
            peripheral endocrine and paracrine functions including blood
            pressure, the immune system, and endocrine gland secretion. The
            products of this gene lack a dibasic cleavage site found in other
            tachykinin proteins. Consequently, the nature of the cleavage
            products generated in vivo remains to be determined. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            Transcript Variant: This variant (alpha-2) uses an alternate
            in-frame splice site in the 5' coding region, compared to variant
            alpha. The resulting protein (isoform alpha-2) is shorter than
            isoform alpha.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..718
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     gene            1..718
                     /gene="TAC4"
                     /gene_synonym="EK; HK-1; HK1; PPT-C"
                     /note="tachykinin precursor 4"
                     /db_xref="GeneID:255061"
                     /db_xref="HGNC:HGNC:16641"
                     /db_xref="MIM:607833"
     misc_feature    11..13
                     /gene="TAC4"
                     /gene_synonym="EK; HK-1; HK1; PPT-C"
                     /note="upstream in-frame stop codon"
     CDS             53..376
                     /gene="TAC4"
                     /gene_synonym="EK; HK-1; HK1; PPT-C"
                     /note="isoform alpha-2 precursor is encoded by transcript
                     variant alpha-2; endokinin; preprotachykinin-C; tachykinin
                     4 (hemokinin); tachykinin-4"
                     /codon_start=1
                     /product="tachykinin-4 isoform alpha-2 precursor"
                     /protein_id="NP_001070974.1"
                     /db_xref="CCDS:CCDS45727.1"
                     /db_xref="GeneID:255061"
                     /db_xref="HGNC:HGNC:16641"
                     /db_xref="MIM:607833"
                     /translation="MLPCLALLLLMELSVCTVAGDGGEEQTLSTEAETWEGAGPSIQLQ
                     LQEVKTGKASQFFGLMGKRVGGRPLIQPRRKKAYQLEHTFQGLLGKRSLFTEGREDEAQ
                     GSE"
     sig_peptide     53..109
                     /gene="TAC4"
                     /gene_synonym="EK; HK-1; HK1; PPT-C"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     regulatory      698..703
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TAC4"
                     /gene_synonym="EK; HK-1; HK1; PPT-C"
                     /note="hexamer: AATAAA"
     polyA_site      718
                     /gene="TAC4"
                     /gene_synonym="EK; HK-1; HK1; PPT-C"
                     /note="major polyA site"
ORIGIN
        1 atcttcaagc tgagaggggc tcccagagat tccaggacag tgcaggctca ccatgctgcc
       61 ttgcctcgcc ctgcttctcc tgatggagct gtccgtgtgc actgtggcag gtgatggtgg
      121 agaggaacag acactcagca ctgaagcaga gacctgggaa ggcgctggcc ccagcattca
      181 gctccagctg caggaggtga agacgggcaa ggcaagccag ttctttgggc tgatggggaa
      241 gcgagtggga ggaagacctc tgatccagcc aaggagaaaa aaagcatatc agctggaaca
      301 cacgttccag ggcctcctgg gcaagagaag cctgttcaca gaaggcagag aggatgaggc
      361 ccaaggttca gagtaaaagc ccccaccaca gacttcccag aggacacggt gccgcttctt
      421 cctacctgga tgtcacagct gacaagccgg caggccaact ctcttctctg tgtctcctgt
      481 cctcatcgct ggcacttcac acaaggccca cactgaaccc actgggcttc ttcctggact
      541 ctcagtgtca agcagcagtc ctgcataaat gcacagcttc gccgtagcaa gctgcactga
      601 ctctgccctc cctcacactc agagttggca tctcactgca cagcagtgag gagactcgca
      661 cactctgtat cctgtgccta gcacacagta ggcactcaat aaatgagtga ccagtgaa
//
LOCUS       NM_001077525            2452 bp    mRNA    linear   PRI 22-JAN-2023
DEFINITION  Homo sapiens myotubularin related protein 14 (MTMR14), transcript
            variant 2, mRNA.
ACCESSION   NM_001077525
VERSION     NM_001077525.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2452)
  AUTHORS   Kovacs T, Szinyakovics J, Billes V, Muranyi G, Varga VB, Bjelik A,
            Legradi A, Szabo M, Sandor S, Kubinyi E, Szekeres-Paracky C,
            Szocsics P, Loke J, Mulder J, Gulyas B, Renner E, Palkovits M, Gulya
            K, Magloczky Z and Vellai T.
  TITLE     A conserved MTMR lipid phosphatase increasingly suppresses autophagy
            in brain neurons during aging
  JOURNAL   Sci Rep 12 (1), 21817 (2022)
   PUBMED   36528685
  REMARK    GeneRIF: A conserved MTMR lipid phosphatase increasingly suppresses
            autophagy in brain neurons during aging. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2452)
  AUTHORS   Li Z, Rong L, Lian H, Cheng J, Wu X and Li X.
  TITLE     Knockdown MTMR14 promotes cell apoptosis and inhibits migration in
            liver cancer cells
  JOURNAL   Gene 691, 106-113 (2019)
   PUBMED   30586604
  REMARK    GeneRIF: Results demonstrated that MTMR14 expression is
            overexpressed in liver cancer. A loss-of-function study showed that
            knockdown of MTMR14 promotes cell apoptosis and inhibits cell
            migration, and inhibits tumor migration in vivo in a liver cancer
            peritoneal implantation nude mouse model.
REFERENCE   3  (bases 1 to 2452)
  AUTHORS   Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J,
            Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A,
            Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie
            N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot
            A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A,
            Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ,
            Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T,
            Roth FP, Xia Y, Walhout AJM, Lindquist S and Vidal M.
  TITLE     Widespread macromolecular interaction perturbations in human genetic
            disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   4  (bases 1 to 2452)
  AUTHORS   Gibbs EM, Feldman EL and Dowling JJ.
  TITLE     The role of MTMR14 in autophagy and in muscle disease
  JOURNAL   Autophagy 6 (6), 819-820 (2010)
   PUBMED   20595810
  REMARK    GeneRIF: This study provides the first in vivo evidence for a role
            of myotubularins, and in particular MTMR14, in the regulation of
            autophagy.
REFERENCE   5  (bases 1 to 2452)
  AUTHORS   Vergne I, Roberts E, Elmaoued RA, Tosch V, Delgado MA,
            Proikas-Cezanne T, Laporte J and Deretic V.
  TITLE     Control of autophagy initiation by phosphoinositide 3-phosphatase
            Jumpy
  JOURNAL   EMBO J 28 (15), 2244-2258 (2009)
   PUBMED   19590496
  REMARK    GeneRIF: The authors uncovered a key negative regulatory role in
            autophagy of a phosphatidylinositol 3-phosphate (PI3P) phosphatase
            Jumpy (MTMR14).
REFERENCE   6  (bases 1 to 2452)
  AUTHORS   Tosch V, Rohde HM, Tronchere H, Zanoteli E, Monroy N, Kretz C,
            Dondaine N, Payrastre B, Mandel JL and Laporte J.
  TITLE     A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating
            variant in centronuclear myopathy
  JOURNAL   Hum Mol Genet 15 (21), 3098-3106 (2006)
   PUBMED   17008356
  REMARK    GeneRIF: Study identified a novel phosphoinositide phosphatase,
            JUMPY in sporadic cases of centronuclear myopathy; two missense
            variants that affect the enzymatic function were found GeneRIF:
            C3orf29 encodes hJUMPY, a phosphoinositide 3-phosphate phosphatase
            that acts on PtdIns3P and PtdIns(3,5)P2. A missense mutation
            disrupts the catalytic activity in a patient with centronuclear
            myopathy.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC035690.1, SRR7346977.961165.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000296003.9/ ENSP00000296003.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC316206.1 and BC035690.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001077525.2.
            Summary: This gene encodes a myotubularin-related protein. The
            encoded protein is a phosphoinositide phosphatase that specifically
            dephosphorylates phosphatidylinositol 3,5-biphosphate and
            phosphatidylinositol 3-phosphate. Mutations in this gene are
            correlated with autosomal dominant centronuclear myopathy.
            Alternate splicing results in multiple transcript variants. A
            pseudogene of this gene is found on chromosome 18.[provided by
            RefSeq, Apr 2010].
            Transcript Variant: This variant (2) represents the longest
            transcript and it encodes the longest protein (isoform 2).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2452
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..2452
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="myotubularin related protein 14"
                     /db_xref="GeneID:64419"
                     /db_xref="HGNC:HGNC:26190"
                     /db_xref="MIM:611089"
     CDS             80..2032
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="isoform 2 is encoded by transcript variant 2;
                     egg-derived tyrosine phosphatase homolog; jumpy;
                     NS5ATP4ABP1"
                     /codon_start=1
                     /product="myotubularin-related protein 14 isoform 2"
                     /protein_id="NP_001070993.1"
                     /db_xref="CCDS:CCDS43043.1"
                     /db_xref="GeneID:64419"
                     /db_xref="HGNC:HGNC:26190"
                     /db_xref="MIM:611089"
                     /translation="MAGARAAAAAASAGSSASSGNQPPQELGLGELLEEFSRTQYRAKD
                     GSGTGGSKVERIEKRCLELFGRDYCFSVIPNTNGDICGHYPRHIVFLEYESSEKEKDTF
                     ESTVQVSKLQDLIHRSKMARCRGRFVCPVILFKGKHICRSATLAGWGELYGRSGYNYFF
                     SGGADDAWADVEDVTEEDCALRSGDTHLFDKVRGYDIKLLRYLSVKYICDLMVENKKVK
                     FGMNVTSSEKVDKAQRYADFTLLSIPYPGCEFFKEYKDRDYMAEGLIFNWKQDYVDAPL
                     SIPDFLTHSLNIDWSQYQCWDLVQQTQNYLKLLLSLVNSDDDSGLLVHCISGWDRTPLF
                     ISLLRLSLWADGLIHTSLKPTEILYLTVAYDWFLFGHMLVDRLSKGEEIFFFCFNFLKH
                     ITSEEFSALKTQRRKSLPARDGGFTLEDICMLRRKDRGSTTSLGSDFSLVMESSPGATG
                     SFTYEAVELVPAGAPTQAAWRKSHSSSPQSVLWNRPQPSEDRLPSQQGLAEARSSSSSS
                     SNHSDNFFRMGSSPLEVPKPRSVDHPLPGSSLSTDYGSWQMVTGCGSIQERAVLHTDSS
                     LPFSFPDELPNSCLLAALSDRETRLQEVRSAFLAAYSSTVGLRAVAPSPSGAIGGLLEQ
                     FARGVGLRSISSNAL"
     misc_feature    80..160
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCE2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    659..661
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q8NCE2.2); acetylation site"
     misc_feature    755..757
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NCE2.2); glycosylation site"
     misc_feature    1505..1717
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8NCE2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1631..1633
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NCE2.2); phosphorylation site"
     misc_feature    1634..1636
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q8NCE2.2); glycosylation site"
     misc_feature    1667..1669
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NCE2.2); phosphorylation site"
     misc_feature    1817..1819
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336; propagated from
                     UniProtKB/Swiss-Prot (Q8NCE2.2); phosphorylation site"
     misc_feature    1949..1951
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8NCE2.2); phosphorylation site"
     misc_feature    1991..1993
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (Q8NCE2.2); methylation site"
     regulatory      2424..2429
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="hexamer: AATAAA"
     polyA_site      2452
                     /gene="MTMR14"
                     /gene_synonym="C3orf29"
                     /note="major polyA site"
ORIGIN
        1 aggttctagt gtcggagttg ggtgcaggca ggtgccatgg gcccgcttga ggcacactga
       61 ggggacgcgg ggctgggcca tggccggcgc tcgggccgcc gccgccgctg cctcggcggg
      121 gtcctcggcc tcttcaggca accagccgcc tcaggagctg gggcttgggg agctgctgga
      181 ggagttctcc cggactcagt accgggccaa ggatggcagc gggaccggcg gctctaaggt
      241 tgagcgcatt gagaagagat gtctggagct gtttggccga gactactgtt tcagcgtgat
      301 tccaaacacg aatggggata tctgtggcca ctatccccgg cacatcgtgt tcctggagta
      361 tgagagttct gagaaggaga aagacacgtt tgagagtacc gtacaggtga gcaagttgca
      421 agacctcatc caccgcagca agatggcccg gtgcagagga cggtttgtct gcccagtaat
      481 cctgttcaag ggcaagcaca tttgcaggtc ggccacactg gctggatggg gagagctgta
      541 tggacgctca ggctacaact attttttctc agggggtgca gatgatgcct gggcagatgt
      601 ggaggacgtc acggaggagg actgtgctct tcgaagtggt gacacgcatc tttttgataa
      661 ggtcagaggc tatgacatca agctgcttcg atacctgtca gtcaaataca tctgtgacct
      721 gatggtggag aacaagaagg tgaagtttgg catgaatgta acctcctctg agaaggtgga
      781 caaagcccag cgctatgccg acttcactct cctctccatc ccgtatccag gctgtgaatt
      841 tttcaaggaa tataaagatc gggattacat ggcagaaggg ctcatattta actggaagca
      901 ggactacgtt gatgccccat tgagcatccc cgacttcctg actcactctc tgaacattga
      961 ctggagccag tatcagtgtt gggatctggt gcaacaaaca caaaactacc tgaagctgct
     1021 gctttcctta gttaacagtg atgatgacag cgggctgctg gtacactgta tctcaggctg
     1081 ggatcggacc cccctcttca tctccctcct gcgcctttcc ttgtgggctg atgggctcat
     1141 ccacacgtcc ctgaagccca ctgagatcct ctacctcact gtggcctatg actggttcct
     1201 cttcgggcac atgttggtag atcggctcag caaaggggag gagattttct tcttctgctt
     1261 caattttttg aagcatatta cctccgagga gttctctgct ctgaagaccc agaggaggaa
     1321 gagtttgcca gcccgggatg gaggcttcac cctggaagac atctgcatgc tgagacgaaa
     1381 ggaccgtggc agcaccacca gccttggcag cgacttctcc ctggtcatgg agagttcccc
     1441 aggagccact gggagcttca cctatgaggc cgtggagctg gtcccagcag gagcgccaac
     1501 tcaggcagct tggaggaaga gccactcatc ctctccacag agtgtcctct ggaaccggcc
     1561 acaaccctca gaggaccgct tgccttccca gcaggggctg gcggaagcca ggtcttccag
     1621 ctcctcttcc tcaaaccatt ctgataactt tttcaggatg ggtagcagtc ccctggaggt
     1681 ccccaaaccc agatcagtgg accatcccct gcccggatcc tctctctcca cagactatgg
     1741 cagctggcag atggtaacgg gctgtggcag tattcaggag cgggctgtcc tgcacacaga
     1801 ctcctctctc cctttcagct tcccggatga gctccctaac agttgtctgc ttgcagccct
     1861 gagtgatcga gagactcggc tgcaggaggt gcgctcagcc ttcttggctg cgtacagcag
     1921 cacagtgggg cttcgggcag tagcccccag tccttccggt gccatcgggg gcctgctgga
     1981 gcaatttgcc cgtggtgttg gactccggag catcagcagc aatgccttgt gaagaagcca
     2041 gcccatgaca ttttcctgct cctctctcag ctgagccctt agcagagaat caaagccatg
     2101 cctggccgaa ggggtacttc caggtcaggg gaaatttcag tcccccatct ccatcatgaa
     2161 catggcagcc ccaaagctga gcaaggccaa agacagggtt ttccaacccc cagcctcttg
     2221 actggtgacc accacccctt cttgtcactg tctcccaccc accccatctt tgctgggatt
     2281 cccatcaact ctcagaactg tgtggggttt ccctggggcc ttgtggaagc catgacttca
     2341 caaagaccct acctgtcagt tcttgtttct ggggaggagg gatcacctgc actgagaatg
     2401 aggcagtttg acacagatca caaaataaaa tcaaagtctt tttgaatagc ca
//
LOCUS       NM_001077594            2637 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens exocyst complex component 3 like 4 (EXOC3L4),
            transcript variant 1, mRNA.
ACCESSION   NM_001077594
VERSION     NM_001077594.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2637)
  AUTHORS   Miller JE, Shivakumar MK, Lee Y, Han S, Horgousluoglu E, Risacher
            SL, Saykin AJ, Nho K and Kim D.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Rare variants in the splicing regulatory elements of EXOC3L4 are
            associated with brain glucose metabolism in Alzheimer's disease
  JOURNAL   BMC Med Genomics 11 (Suppl 3), 76 (2018)
   PUBMED   30255815
  REMARK    GeneRIF: Rare variants in the splicing regulatory elements of
            EXOC3L4 are associated with Alzheimer's disease. Publication Status:
            Online-Only
REFERENCE   2  (bases 1 to 2637)
  AUTHORS   Middelberg RP, Benyamin B, de Moor MH, Warrington NM, Gordon S,
            Henders AK, Medland SE, Nyholt DR, de Geus EJ, Hottenga JJ,
            Willemsen G, Beilin LJ, Mori TA, Wright MJ, Heath AC, Madden PA,
            Boomsma DI, Pennell CE, Montgomery GW, Martin NG and Whitfield JB.
  TITLE     Loci affecting gamma-glutamyl transferase in adults and adolescents
            show age x SNP interaction and cardiometabolic disease associations
  JOURNAL   Hum Mol Genet 21 (2), 446-455 (2012)
   PUBMED   22010049
REFERENCE   3  (bases 1 to 2637)
  AUTHORS   Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, Pistis G,
            Serbanovic-Canic J, Elling U, Goodall AH, Labrune Y, Lopez LM, Magi
            R, Meacham S, Okada Y, Pirastu N, Sorice R, Teumer A, Voss K, Zhang
            W, Ramirez-Solis R, Bis JC, Ellinghaus D, Gogele M, Hottenga JJ,
            Langenberg C, Kovacs P, O'Reilly PF, Shin SY, Esko T, Hartiala J,
            Kanoni S, Murgia F, Parsa A, Stephens J, van der Harst P, Ellen van
            der Schoot C, Allayee H, Attwood A, Balkau B, Bastardot F, Basu S,
            Baumeister SE, Biino G, Bomba L, Bonnefond A, Cambien F, Chambers
            JC, Cucca F, D'Adamo P, Davies G, de Boer RA, de Geus EJ, Doring A,
            Elliott P, Erdmann J, Evans DM, Falchi M, Feng W, Folsom AR, Frazer
            IH, Gibson QD, Glazer NL, Hammond C, Hartikainen AL, Heckbert SR,
            Hengstenberg C, Hersch M, Illig T, Loos RJ, Jolley J, Khaw KT,
            Kuhnel B, Kyrtsonis MC, Lagou V, Lloyd-Jones H, Lumley T, Mangino M,
            Maschio A, Mateo Leach I, McKnight B, Memari Y, Mitchell BD,
            Montgomery GW, Nakamura Y, Nauck M, Navis G, Nothlings U, Nolte IM,
            Porteous DJ, Pouta A, Pramstaller PP, Pullat J, Ring SM, Rotter JI,
            Ruggiero D, Ruokonen A, Sala C, Samani NJ, Sambrook J, Schlessinger
            D, Schreiber S, Schunkert H, Scott J, Smith NL, Snieder H, Starr JM,
            Stumvoll M, Takahashi A, Tang WH, Taylor K, Tenesa A, Lay Thein S,
            Tonjes A, Uda M, Ulivi S, van Veldhuisen DJ, Visscher PM, Volker U,
            Wichmann HE, Wiggins KL, Willemsen G, Yang TP, Hua Zhao J, Zitting
            P, Bradley JR, Dedoussis GV, Gasparini P, Hazen SL, Metspalu A,
            Pirastu M, Shuldiner AR, Joost van Pelt L, Zwaginga JJ, Boomsma DI,
            Deary IJ, Franke A, Froguel P, Ganesh SK, Jarvelin MR, Martin NG,
            Meisinger C, Psaty BM, Spector TD, Wareham NJ, Akkerman JW, Ciullo
            M, Deloukas P, Greinacher A, Jupe S, Kamatani N, Khadake J, Kooner
            JS, Penninger J, Prokopenko I, Stemple D, Toniolo D, Wernisch L,
            Sanna S, Hicks AA, Rendon A, Ferreira MA, Ouwehand WH and Soranzo N.
  TITLE     New gene functions in megakaryopoiesis and platelet formation
  JOURNAL   Nature 480 (7376), 201-208 (2011)
   PUBMED   22139419
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2637)
  AUTHORS   Chambers JC, Zhang W, Sehmi J, Li X, Wass MN, Van der Harst P, Holm
            H, Sanna S, Kavousi M, Baumeister SE, Coin LJ, Deng G, Gieger C,
            Heard-Costa NL, Hottenga JJ, Kuhnel B, Kumar V, Lagou V, Liang L,
            Luan J, Vidal PM, Mateo Leach I, O'Reilly PF, Peden JF, Rahmioglu N,
            Soininen P, Speliotes EK, Yuan X, Thorleifsson G, Alizadeh BZ,
            Atwood LD, Borecki IB, Brown MJ, Charoen P, Cucca F, Das D, de Geus
            EJ, Dixon AL, Doring A, Ehret G, Eyjolfsson GI, Farrall M, Forouhi
            NG, Friedrich N, Goessling W, Gudbjartsson DF, Harris TB,
            Hartikainen AL, Heath S, Hirschfield GM, Hofman A, Homuth G,
            Hypponen E, Janssen HL, Johnson T, Kangas AJ, Kema IP, Kuhn JP, Lai
            S, Lathrop M, Lerch MM, Li Y, Liang TJ, Lin JP, Loos RJ, Martin NG,
            Moffatt MF, Montgomery GW, Munroe PB, Musunuru K, Nakamura Y,
            O'Donnell CJ, Olafsson I, Penninx BW, Pouta A, Prins BP, Prokopenko
            I, Puls R, Ruokonen A, Savolainen MJ, Schlessinger D, Schouten JN,
            Seedorf U, Sen-Chowdhry S, Siminovitch KA, Smit JH, Spector TD, Tan
            W, Teslovich TM, Tukiainen T, Uitterlinden AG, Van der Klauw MM,
            Vasan RS, Wallace C, Wallaschofski H, Wichmann HE, Willemsen G,
            Wurtz P, Xu C, Yerges-Armstrong LM, Abecasis GR, Ahmadi KR, Boomsma
            DI, Caulfield M, Cookson WO, van Duijn CM, Froguel P, Matsuda K,
            McCarthy MI, Meisinger C, Mooser V, Pietilainen KH, Schumann G,
            Snieder H, Sternberg MJ, Stolk RP, Thomas HC, Thorsteinsdottir U,
            Uda M, Waeber G, Wareham NJ, Waterworth DM, Watkins H, Whitfield JB,
            Witteman JC, Wolffenbuttel BH, Fox CS, Ala-Korpela M, Stefansson K,
            Vollenweider P, Volzke H, Schadt EE, Scott J, Jarvelin MR, Elliott P
            and Kooner JS.
  CONSRTM   Alcohol Genome-wide Association (AlcGen) Consortium; Diabetes
            Genetics Replication and Meta-analyses (DIAGRAM+) Study; Genetic
            Investigation of Anthropometric Traits (GIANT) Consortium; Global
            Lipids Genetics Consortium; Genetics of Liver Disease (GOLD)
            Consortium; International Consortium for Blood Pressure (ICBP-GWAS);
            Meta-analyses of Glucose and Insulin-Related Traits Consortium
            (MAGIC)
  TITLE     Genome-wide association study identifies loci influencing
            concentrations of liver enzymes in plasma
  JOURNAL   Nat Genet 43 (11), 1131-1138 (2011)
   PUBMED   22001757
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3815893.1,
            SRR14038197.1917370.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1970526,
            SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000688303.1/ ENSP00000509130.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL161669.5.
            On or before Apr 8, 2021 this sequence version replaced
            XM_011537327.2, NM_001077594.1.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on transcript alignments.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2637
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.32"
     gene            1..2637
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /note="exocyst complex component 3 like 4"
                     /db_xref="GeneID:91828"
                     /db_xref="HGNC:HGNC:20120"
     misc_feature    49..51
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /note="upstream in-frame stop codon"
     CDS             133..2301
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /note="SEC6-like protein C14orf73"
                     /codon_start=1
                     /product="exocyst complex component 3-like protein 4"
                     /protein_id="NP_001071062.1"
                     /db_xref="CCDS:CCDS32163.1"
                     /db_xref="GeneID:91828"
                     /db_xref="HGNC:HGNC:20120"
                     /translation="MPSPQTDTPGPELQSPKEAEEPQTPAQGSRRTSSRKEPNAHRKDG
                     TRLGLGSLRQAFSRASQRALTQVSKEDTGLFRRSSCSLFRSFRQALNDGPATGHSQATP
                     EVPSGVMNGVSQQASTGAASEELKPEAEGKSVADLITERQLLAAFEQLLRLETLLVAEK
                     ASRTFEQDPTAFARRAMDVCLLYDGLAAEIGAIVRETLDSDGVDAAALAELARVVSAEE
                     EAHPSPPDDGDFLRTPRRWRQHWEEAVRRSAQERVRRPGAGWAFGEAEGASGLAQLLAE
                     LGGLVRRDLQKVRQEVQPAYAAAGFPAWEVYLRAFHSAVAQRLQELARDARGCEQLYIL
                     LDWAANVYGSPDFLGAPGLALPAEPLPPLLAPDVWARLESDYTSFLEAKIASCFDSILQ
                     LEQSHWAAAEVPEVLQGLYQAPLSMDVHMLVAEHVKAAGAISAELEATTLRICTRALGL
                     FVPRFEKAFLASEAVSEPHLGAYINACEELRTSLLSRFPGTQEELEKPLVTATCSFQKH
                     LLQGLQRELQPLFRVVCTRDWLTQDWLHPLMDKVVTFAGHLQRVARPRAQETLQEVHRF
                     VVREYLARALRPRERFRGMERMHGSQKMSLDAQAISDTFQGLGSEATWLDQAIQCVAEI
                     LGETYKDDIQRHLETLIRSYPDIRRDHILAILALRRLGRQRNQHLLQHTQDLLRAAAGA
                     AGAEAPRGRVLFEEIKVPSAMAVLITCV"
     misc_feature    133..291
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /note="propagated from UniProtKB/Swiss-Prot (Q17RC7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    286..288
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q17RC7.2); phosphorylation site"
     misc_feature    406..525
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /note="propagated from UniProtKB/Swiss-Prot (Q17RC7.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1669..1671
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q17RC7.2); phosphorylation site"
     regulatory      2620..2625
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /note="hexamer: AATAAA"
     polyA_site      2637
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /note="major polyA site"
ORIGIN
        1 gtcactcgct caggctgctc tagaggcccc atagccaggg cccggctctg agggccccac
       61 gggccagctt ctcagggggc tgtgttcttc ctgggccaag gctgcgtgct cagcagctct
      121 cctgctgcca agatgccatc accacagaca gacactcctg ggccggagct gcagagtccc
      181 aaggaggctg aggagccaca gactccagct cagggctccc ggcgaacaag cagcaggaaa
      241 gagcccaatg cccaccgcaa ggatggcaca aggctgggcc tgggctccct gaggcaggcc
      301 ttctcccggg ccagccagcg ggctttgacc caggtctcca aggaagatac gggcctgttc
      361 cggcgaagct cctgctccct gttccggtcc ttccggcaag ccctgaatga cggcccagct
      421 accggccatt cccaggccac tcctgaggtg ccctcggggg tcatgaatgg tgtcagccag
      481 caggcatcca ctggggcagc gtctgaggaa ctgaaacccg aggcagaagg caaatccgtg
      541 gccgacctca ttactgaacg gcaactgctg gcggccttcg aacagcttct gcgcctggag
      601 acgctgctgg tggccgagaa ggcctcgcgc acctttgagc aggaccctac ggccttcgcg
      661 cggcgcgcta tggacgtgtg cctgctttac gacgggctgg cagccgagat cggcgccatc
      721 gtgcgcgaga cgctggacag cgacggtgtg gacgcggccg cgctggccga gctggcccgc
      781 gtggtgagcg cggaggagga agcccaccct tctccccccg acgacggcga cttcctgcgc
      841 acgccgcgcc gctggcgcca gcactgggag gaggcggtgc ggcgaagcgc tcaggagcgc
      901 gtgcggcggc cgggcgcggg gtgggccttc ggggaggcgg agggcgcgtc gggtttggcc
      961 cagcttctgg ccgagctggg tggcttggtt cgccgcgacc tgcagaaggt gcggcaggag
     1021 gtgcagcccg cgtatgcggc ggccggcttc ccagcgtggg aggtctatct gcgtgccttc
     1081 cacagcgccg tggcccagcg cctccaggag ctcgcgcgcg acgcccgcgg ctgcgagcag
     1141 ctctatatcc tgctggactg ggccgccaac gtctacggca gtcctgactt cctgggcgcc
     1201 ccggggctgg cgctgcccgc cgagccgctg cctccgctcc tggcgccgga cgtgtgggcc
     1261 cgactggaga gcgactacac cagcttcctg gaggccaaga tcgcaagctg cttcgacagc
     1321 atcttgcagc tggagcagag tcactgggcg gccgccgagg tccccgaggt gctgcagggc
     1381 ctctaccagg cgccgctgtc catggacgtc catatgctcg tggccgagca cgtgaaggcg
     1441 gccggcgcca tctccgcgga gctggaggcc accaccctgc gaatctgcac gcgggcgctc
     1501 ggcctcttcg tgcccaggtt tgaaaaggct tttctggcgt cggaggcggt gagcgagccg
     1561 cacctgggcg cctacatcaa cgcctgcgag gagctcagga ccagtcttct ctccaggttc
     1621 ccaggaaccc aagaggagct ggagaagccc ctggtgacgg ccacctgcag cttccagaag
     1681 cacttgcttc agggcttgca gcgtgagttg cagccgctct tcagggttgt gtgcaccagg
     1741 gactggctga cgcaggactg gctgcatccc ctcatggaca aggtggtgac cttcgccggt
     1801 catctccagc gtgtggcccg gccgcgggca caggagactc tgcaggaggt gcaccggttc
     1861 gtggtccgcg agtacctggc gcgggcgctg aggccacggg agcggttccg gggcatggag
     1921 cgcatgcatg gctcccagaa gatgagcctg gatgcccagg ccatcagcga caccttccag
     1981 ggcctgggtt ccgaggccac atggttggac caagccatcc agtgcgtggc tgagatcctg
     2041 ggcgagacct acaaagatga catccagcgg cacctggaga ctcttatccg gagctacccc
     2101 gacatcaggc gggaccacat actggccatt ctggcgctgc gccgactggg ccgccagcgg
     2161 aaccagcatc tcttgcagca cactcaagac ctgctgagag ctgcggccgg ggcggcgggt
     2221 gcggaggccc ctcggggccg cgtgctcttc gaggagatca aggtgcccag tgccatggct
     2281 gtgctgatca cctgcgtcta gttctctctg gctcgagggg gggccggccg ctggcaggga
     2341 gctgtggtca gtgggggtca gccaggagcc cagggagtca ctctgggccc tgcccccaac
     2401 tctgacactg cagttaggga atttttgtcg tcagcagcca agcgcagctg tcaggccaga
     2461 aggagcagcc gtgcaggagg catttcaggc atcgttgagg ggagtgtttt ggggccgcag
     2521 agctctcaat gctgcctatc gggcgggggg gggcctcccg cccgactgtc cagcttcacc
     2581 ctccagtctg aaagtgaaga gcagagtatt tatttaaaaa ataaatgtga attaaaa
//
LOCUS       NM_001077619            4971 bp    mRNA    linear   PRI 17-DEC-2022
DEFINITION  Homo sapiens UBX domain protein 2B (UBXN2B), transcript variant 1,
            mRNA.
ACCESSION   NM_001077619
VERSION     NM_001077619.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4971)
  AUTHORS   Mirzadeh A, Kobakhidze G, Vuillemot R, Jonic S and Rouiller I.
  TITLE     In silico prediction, characterization, docking studies and
            molecular dynamics simulation of human p97 in complex with p37
            cofactor
  JOURNAL   BMC Mol Cell Biol 23 (1), 39 (2022)
   PUBMED   36088301
  REMARK    GeneRIF: In silico prediction, characterization, docking studies and
            molecular dynamics simulation of human p97 in complex with p37
            cofactor. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4971)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 4971)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4971)
  AUTHORS   Trepte P, Kruse S, Kostova S, Hoffmann S, Buntru A, Tempelmeier A,
            Secker C, Diez L, Schulz A, Klockmeier K, Zenkner M, Golusik S, Rau
            K, Schnoegl S, Garner CC and Wanker EE.
  TITLE     LuTHy: a double-readout bioluminescence-based two-hybrid technology
            for quantitative mapping of protein-protein interactions in
            mammalian cells
  JOURNAL   Mol Syst Biol 14 (7), e8071 (2018)
   PUBMED   29997244
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4971)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 4971)
  AUTHORS   Luca G, Haba-Rubio J, Dauvilliers Y, Lammers GJ, Overeem S,
            Donjacour CE, Mayer G, Javidi S, Iranzo A, Santamaria J,
            Peraita-Adrados R, Hor H, Kutalik Z, Plazzi G, Poli F, Pizza F,
            Arnulf I, Lecendreux M, Bassetti C, Mathis J, Heinzer R, Jennum P,
            Knudsen S, Geisler P, Wierzbicka A, Feketeova E, Pfister C, Khatami
            R, Baumann C and Tafti M.
  CONSRTM   European Narcolepsy Network
  TITLE     Clinical, polysomnographic and genome-wide association analyses of
            narcolepsy with cataplexy: a European Narcolepsy Network study
  JOURNAL   J Sleep Res 22 (5), 482-495 (2013)
   PUBMED   23496005
REFERENCE   7  (bases 1 to 4971)
  AUTHORS   Kress E, Schwager F, Holtackers R, Seiler J, Prodon F, Zanin E,
            Eiteneuer A, Toya M, Sugimoto A, Meyer H, Meraldi P and Gotta M.
  TITLE     The UBXN-2/p37/p47 adaptors of CDC-48/p97 regulate mitosis by
            limiting the centrosomal recruitment of Aurora A
  JOURNAL   J Cell Biol 201 (4), 559-575 (2013)
   PUBMED   23649807
  REMARK    GeneRIF: human p37/p47 and their C. elegans orthologue UBXN-2
            regulate centrosome function in prophase by limiting the recruitment
            of Aurora A
REFERENCE   8  (bases 1 to 4971)
  AUTHORS   Kaneko Y, Tamura K, Totsukawa G and Kondo H.
  TITLE     Phosphorylation of p37 is important for Golgi disassembly at mitosis
  JOURNAL   Biochem Biophys Res Commun 402 (1), 37-41 (2010)
   PUBMED   20875789
  REMARK    GeneRIF: these results demonstrate that p37 phosphorylation on
            Serine-56 and Threonine-59 is important for Golgi disassembly at
            mitosis.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.67259.1,
            SRR1660805.162141.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000399598.7/ ENSP00000382507.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC113645.1, AK126300.1 and U79282.1.
            On Nov 22, 2018 this sequence version replaced NM_001077619.1.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4971
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.1"
     gene            1..4971
                     /gene="UBXN2B"
                     /gene_synonym="p37"
                     /note="UBX domain protein 2B"
                     /db_xref="GeneID:137886"
                     /db_xref="HGNC:HGNC:27035"
                     /db_xref="MIM:610686"
     CDS             26..1021
                     /gene="UBXN2B"
                     /gene_synonym="p37"
                     /note="isoform 1 is encoded by transcript variant 1; UBX
                     domain-containing protein 2B; p97 cofactor p37; NSFL1
                     cofactor p37"
                     /codon_start=1
                     /product="UBX domain-containing protein 2B isoform 1"
                     /protein_id="NP_001071087.1"
                     /db_xref="CCDS:CCDS43741.1"
                     /db_xref="GeneID:137886"
                     /db_xref="HGNC:HGNC:27035"
                     /db_xref="MIM:610686"
                     /translation="MAEGGGPEPGEQERRSSGPRPPSARDLQLALAELYEDEVKCKSSK
                     SNRPKATVFKSPRTPPQRFYSSEHEYSGLNIVRPSTGKIVNELFKEAREHGAVPLNEAT
                     RASGDDKSKSFTGGGYRLGSSFCKRSEYIYGENQLQDVQILLKLWSNGFSLDDGELRPY
                     NEPTNAQFLESVKRGEIPLELQRLVHGGQVNLDMEDHQDQEYIKPRLRFKAFSGEGQKL
                     GSLTPEIVSTPSSPEEEDKSILNAVVLIDDSVPTTKIQIRLADGSRLIQRFNSTHRILD
                     VRNFIVQSRPEFAALDFILVTSFPNKELTDESLTLLEADILNTVLLQQLK"
     misc_feature    26..103
                     /gene="UBXN2B"
                     /gene_synonym="p37"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14CS0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    29..31
                     /gene="UBXN2B"
                     /gene_synonym="p37"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q14CS0.1); acetylation site"
     misc_feature    143..220
                     /gene="UBXN2B"
                     /gene_synonym="p37"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14CS0.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    191..193
                     /gene="UBXN2B"
                     /gene_synonym="p37"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q14CS0.1); phosphorylation site"
     misc_feature    200..202
                     /gene="UBXN2B"
                     /gene_synonym="p37"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q14CS0.1); phosphorylation site"
     misc_feature    221..223
                     /gene="UBXN2B"
                     /gene_synonym="p37"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14CS0.1); phosphorylation site"
     misc_feature    716..718
                     /gene="UBXN2B"
                     /gene_synonym="p37"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q14CS0.1); phosphorylation site"
     misc_feature    725..727
                     /gene="UBXN2B"
                     /gene_synonym="p37"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P0C627; propagated from
                     UniProtKB/Swiss-Prot (Q14CS0.1); phosphorylation site"
     misc_feature    728..730
                     /gene="UBXN2B"
                     /gene_synonym="p37"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q14CS0.1); phosphorylation site"
     regulatory      4945..4950
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBXN2B"
                     /gene_synonym="p37"
                     /note="hexamer: AATAAA"
     polyA_site      4971
                     /gene="UBXN2B"
                     /gene_synonym="p37"
                     /note="major polyA site"
ORIGIN
        1 agcgggcgcc gctagccagc ggaagatggc ggagggcgga ggccctgagc ccggcgagca
       61 ggagaggagg tcttccgggc cgcggcctcc gagcgcgcgg gatttgcagt tggccttggc
      121 agaattgtat gaagatgaag tgaagtgcaa atcttccaag tctaatagac ctaaagccac
      181 agtcttcaag agcccacgga caccacctca acggttttac tcaagtgaac atgaatacag
      241 tggattaaat atagttcgac cttcaactgg gaaaattgtg aatgaacttt tcaaagaggc
      301 aagggaacat ggggctgtcc ctctgaatga agccacaaga gcttcaggtg atgataaatc
      361 taagtcattt acaggtggag gatacagatt gggtagttct ttttgtaagc ggtctgaata
      421 tatctatgga gaaaatcagc tgcaagatgt tcagattttg cttaaactgt ggagcaatgg
      481 tttcagttta gatgatggag aattgagacc ttacaatgaa ccaacaaatg ctcaatttct
      541 ggagtctgtt aagagaggag agattcccct ggagcttcag cgccttgttc atggtggcca
      601 agtgaatttg gatatggagg atcatcagga tcaagaatac ataaaaccta gattgaggtt
      661 caaggctttt agtggagaag ggcaaaaact tggaagcctt acacctgaaa tagtcagtac
      721 accttcctct ccagaagagg aggataaatc aatacttaat gcagttgttc ttattgatga
      781 ttcagtgcca acaacaaaaa ttcaaatcag gttagcagat gggagtcgtt tgatacaaag
      841 attcaatagt acacacagga tcctggatgt ccggaacttt attgtacagt ctcgtcctga
      901 atttgcggct cttgacttta ttcttgtgac ttcatttccg aataaagagc taacagatga
      961 aagcctgaca ctgctagaag cagatattct taacactgtg ttactccagc aactaaaata
     1021 atattgttcc tgtccatgca gtagcatgtg ggaatagatg atgtgccgta ttaataagga
     1081 caatacttca gcattaaaaa cagccaaatt atttttatta tttttacaga taaattttgg
     1141 ttttattgtt attctgtctt ccaatctgaa tatagacaaa tttggattag gaatagacct
     1201 tgagataagt atgtttgagt ttttagttga aggactggct tatgttgata gtttttggat
     1261 ttctaggcaa atgagttgtt acatgcttag tgttaatgta acaacatttg tttgcagaga
     1321 aaaatgaaca aaaccccttt ttgataaatg catttggtaa aatttgcact aaagtttctt
     1381 gatgcagcat tgaccaacag ccattaagaa atcttttgat caaataagtt gaaaatttgt
     1441 ctataatata tactgaaacg tgtcttttga ttttgaaatt gtttgatcat acaataatta
     1501 tttctcctat taagatttta cacatccttt ttacttactg atttagatat attactagta
     1561 tcagaaacta cagttttgcc ttgtatttta cagaattatg actgttgtga acttaaacag
     1621 aaacacataa aggtcagcaa ttcttttttt tttttttttt gatatggagt tttgctcttg
     1681 ttgcccaggc tggagtgcaa tggcataatt tctgctcacc gcaacctccg cctcccaggt
     1741 tcaaaagatt ctcctgcctt agcctcccaa gtagctggga ttacaggcat gcgccaccat
     1801 gcctggctaa tttttgtact tttgctagag acagcgtttc tctgtgttga tcaggctggt
     1861 ctcgaactcc gaacctcagg tgatccaccc acctcagcct cccaaagtgc tgggattaca
     1921 ggcatgagcc accacgccca gcctaaaggt cagcagttct taagaagata tggtaaacag
     1981 caacaatatt ttaaaatcaa gtaattacag ttcctcccag agcttgcgtt gatcacattc
     2041 atttattcat tcaacacatt tttctaggaa actcactgta tacactaaac actattctgt
     2101 gtgctcaacc tagaatgtct tctccagaac aagactagtg tagaaataca ggaatgtaaa
     2161 ttctgtcaga cggactagat ctaaagaatt accagcataa atgtttgcat ttctgctgaa
     2221 gccagaagct tttccttctt cctagacacc atttcatcct taattattac ttctggttag
     2281 ttttccattg ccaccataac aagttacaaa atgtggctta aaatagcaca aatttattat
     2341 cttcacaatt ctgtaggtta ggagtccagg ttaagagttt cgcggtgcca agatcaattt
     2401 gttggcaggg ttgcattctg ttaggaggct ctacaggaga atcatttcct tgtcattcca
     2461 ccttctacag gacatcctca ttccttggct tgtgacctcc ttcttccatc ttaaaaacca
     2521 gtgctgtttc atctctatga cccttctgtt accacatctc tctgacacca gtgtggagag
     2581 gttctctgca ggactcatga ttaaatgagg cccaccggat atccaatcta ggcttatctc
     2641 cttgtcttga aatccatagt aaccttaatt acatctgcaa aatctctttt accatctaag
     2701 gttacataca ggtttggaga ttaggacatt aacattttac atggaacatt attcttgcct
     2761 actacagttc ccacccaccc cccgctccac tcctgtgtta aagattcaga ttcatcacaa
     2821 ataaatttac atcactcata ggtgctcaaa agtcacaatc cattattaca gcatcaactc
     2881 taaatccaaa atcttatctg agtctcacca actcaaaagt ctcaaatctc acattgaagc
     2941 catctaaatt aagtttggga gaggatctgt gtgtgatttc tgggacataa ttccaactgt
     3001 gcacttgtga acctagaaaa caagttatct gttcccaagt atgatggcat gacaggcaga
     3061 caataatagt tacacacgtt cctgttcaaa aagcagaaac agatggaaaa aggagccatc
     3121 agcaccaatc aatttacaaa accagcgagg cacccttctt taagtttcaa ggcctgggag
     3181 taatcttcag ctcactgctg ttctctgggc ttgttgactg tctcagagtc atctttactt
     3241 tttcacaaaa ggtagcacac gtttgcagct gagtatcaac ttatcagttt gttcttcttt
     3301 tatattctct aaagctttct gttaaaaatg gtggtgcttc tgctgctata acgttgtcaa
     3361 gaaacttgtg ggtcttttac atatgtcaca gggatgcact catttagata ggaggctcct
     3421 cacgtatctt tcctggaaaa tcctgtctct gtttttggct ttttctgaaa tagctgagag
     3481 gatctatgat tcacaccctt aatatcttca aagagtcttg tgtgtgacct gatattcaga
     3541 ccttttgatg tttctgaagt attagcaaaa ggttatacag ccatatcttc atcactttct
     3601 ctagagtaaa ggctgtcctg acggtgaatc ttagttttag tggcttttgc catttgaata
     3661 ggccgcgaat ttcccaaatc atcaagtcct ggtttcttta tatttaacag gtcttccctc
     3721 aatctacctc tttccacatt ttactataat cagcaagaag acagcaggct gtaccttcca
     3781 cagcttgctt ggaaatatcc tcagctaaat attgaagtca tcacttaaaa gttctgcttt
     3841 acacataacg gcaggacaca actcagctta gcttttcgcc actatgtaac aaggactcct
     3901 ttcctccact tctccagtaa catattcctc attttttacc aacagtctat tcatgatgat
     3961 ttagatattc tatggcaatc gaggtattct ctattatgct cctttcttca aggccgccct
     4021 agcattaaca ttccatattt ctactaacag tctgtttaag gcagtttagc ttcttttctg
     4081 gcatgctcct cagaattctt ccagcctcca cctactgccc aattccagag ccacttttct
     4141 acttttaggt atttgttaca gcagcacctc aagtacctag aaaactcttt tatgcctgct
     4201 tctctgccag atgacttgaa tatggtacta gatttggaat tcacctttct ccagggtcac
     4261 tgtttatttc aaagaggtga atttacctgt gctagggttt tcacactggg agtgctacca
     4321 gaactaccac aggatgaaag tggtgagccc accactgcag agaagttttc tcagtgccgt
     4381 aatatagagg aattctcaaa ataagcccta ctccttttca cttactgaaa acaacttgga
     4441 taatgtgtaa cagccagccc catttcaaaa agattaccag gggtaaaaca actttttcat
     4501 gggtcaaaat catcttccga agaaaatgat ttcttaaaag aattgaacat tgtaaatcaa
     4561 agggcattgt cctgttttgg attaacaaaa caggaaaaat aaccaatcct tgtaaaatta
     4621 tttgaaattt tcttgttttt atcagttgag tgcctataga tgcacataca aaaacaactg
     4681 ccatttttgt atataatagt cttccaagat agagatttac attaggagag aattaaacat
     4741 ccaggaggga tgaacagtat ttcatgtgtg ctatgtagtg ttttgcttca ttgagagtca
     4801 ttttcatgaa ttatttttac tactgcagtc atcttaaatt tataatcatc tcaaaaaaga
     4861 tgtcacaatg aacagacaac catctgtgag gtcagtcatt ttgcatgatg tatgtaatca
     4921 aaaagtttga aatgtctgct tactaataaa gaatgttttc actgaaactt a
//
LOCUS       NM_001077620            1989 bp    mRNA    linear   PRI 25-MAR-2023
DEFINITION  Homo sapiens photoreceptor disc component (PRCD), transcript variant
            1, mRNA.
ACCESSION   NM_001077620
VERSION     NM_001077620.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1989)
  AUTHORS   Murphy J and Kolandaivelu S.
  TITLE     Palmitoylation of Progressive Rod-Cone Degeneration (PRCD) Regulates
            Protein Stability and Localization
  JOURNAL   J Biol Chem 291 (44), 23036-23046 (2016)
   PUBMED   27613864
  REMARK    GeneRIF: Disrupting PRCD palmitoylation eliminating the modified
            cysteine dramatically affects the stability of PRCD.
REFERENCE   2  (bases 1 to 1989)
  AUTHORS   Remez L, Zobor D, Kohl S and Ben-Yosef T.
  TITLE     The progressive rod-cone degeneration (PRCD) protein is secreted
            through the conventional ER/Golgi-dependent pathway
  JOURNAL   Exp Eye Res 125, 217-225 (2014)
   PUBMED   24992209
REFERENCE   3  (bases 1 to 1989)
  AUTHORS   Pach J, Kohl S, Gekeler F and Zobor D.
  TITLE     Identification of a novel mutation in the PRCD gene causing
            autosomal recessive retinitis pigmentosa in a Turkish family
  JOURNAL   Mol Vis 19, 1350-1355 (2013)
   PUBMED   23805042
  REMARK    GeneRIF: The identification of a third mutation in PRCD confirms its
            role in the pathogenesis of retinitis pigmentosa. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 1989)
  AUTHORS   Nevet MJ, Shalev SA, Zlotogora J, Mazzawi N and Ben-Yosef T.
  TITLE     Identification of a prevalent founder mutation in an Israeli Muslim
            Arab village confirms the role of PRCD in the aetiology of retinitis
            pigmentosa in humans
  JOURNAL   J Med Genet 47 (8), 533-537 (2010)
   PUBMED   20507925
  REMARK    GeneRIF: The identification of a second pathogenic mutation of PRCD
            in multiple retinitis pigmentosa (RP) patients confirms the role of
            PRCD in the aetiology of RP in humans.
REFERENCE   5  (bases 1 to 1989)
  AUTHORS   Zangerl B, Goldstein O, Philp AR, Lindauer SJ, Pearce-Kelling SE,
            Mullins RF, Graphodatsky AS, Ripoll D, Felix JS, Stone EM, Acland GM
            and Aguirre GD.
  TITLE     Identical mutation in a novel retinal gene causes progressive
            rod-cone degeneration in dogs and retinitis pigmentosa in humans
  JOURNAL   Genomics 88 (5), 551-563 (2006)
   PUBMED   16938425
REFERENCE   6  (bases 1 to 1989)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301590
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC146898.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000592014.6/ ENSP00000467661.1
            NMD candidate :: translation inferred from conservation
            RefSeq Select criteria      :: based on conservation
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC015802.21, BC146898.1 and
            BC043413.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 23, 2018 this sequence version replaced NM_001077620.2.
            Summary: This gene is predominantly expressed in the retina, and
            mutations in this gene are the cause of autosomal recessive retinal
            degeneration in both humans and dogs. Alternatively spliced
            transcript variants have been found for this gene. [provided by
            RefSeq, Mar 2010].
            Transcript Variant: This variant (1) represents the protein coding
            transcript.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1989
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..1989
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /note="photoreceptor disc component"
                     /db_xref="GeneID:768206"
                     /db_xref="HGNC:HGNC:32528"
                     /db_xref="MIM:610598"
     CDS             99..263
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /note="progressive rod-cone degeneration protein;
                     photoreceptor disk component PRCD"
                     /codon_start=1
                     /product="photoreceptor disk component PRCD precursor"
                     /protein_id="NP_001071088.1"
                     /db_xref="CCDS:CCDS42382.1"
                     /db_xref="GeneID:768206"
                     /db_xref="HGNC:HGNC:32528"
                     /db_xref="MIM:610598"
                     /translation="MCTTLFLLSTLAMLWRRRFANRVQPEPSDVDGAARGSSLDADPQS
                     SGREKEPLK"
     sig_peptide     99..158
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    171..260
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /note="propagated from UniProtKB/Swiss-Prot (Q00LT1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      463..468
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /note="hexamer: AAGAAA"
     polyA_site      486
                     /gene="PRCD"
                     /gene_synonym="RP36"
     regulatory      1965..1970
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /note="hexamer: ATTAAA"
     polyA_site      1989
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /note="major polyA site"
ORIGIN
        1 agacggcagt ggctcctgag agctggctgg ggccattttg gcccctcgcc tgtggccttc
       61 tgcagacttg gcctgggagg ggatggggca gctgcgccat gtgcaccacc cttttcctgc
      121 tcagcaccct ggccatgctc tggcgccgcc gatttgccaa ccgagtccaa ccagagccca
      181 gcgacgtgga tggggcagct aggggcagca gcttggatgc ggaccctcag tcctcaggca
      241 gggagaaaga acctctgaag taagccctca cctctgcagg tggggctcag gcccagagac
      301 tgggatcagc tggctcaggc agctcaggtc ctggttcgtc ccctagccca ggaggatgct
      361 gtgggagctg cagcagcggc aagagggaga atggggggaa gcagcactag agaagttccc
      421 agagctcatc ctgtcactgg ctgctctgct gaaattatca ataagaaatg ccagttggat
      481 ctgtgacatg tctgcctgca gctggatggg agcaacggac agcttgtcct ccgaatgtgt
      541 tttctgtatg tgtgcaagcg cgtgtgttcc aaacgggcag tagcgtgtgg gaaggaaaaa
      601 gcctgacact tgtttttatc aatttgctga tgctcagtcc cggcggctgc ctcctttgcc
      661 cccagctgct ctgccatttc tctcttttca atcctgcatg atcctgagca gagataaaag
      721 cagatttccg cttctgctcc cagatccagg agcagaccct gcaggcagct gctcctgatg
      781 tctcacagct attagtcttc aaaaaccccc cgtgcctctg tgcacacgcg tctctcctcc
      841 ccagccagcc cccctcccag cccagcggcg atgtctctgc ctggctggcc cgtgcccttg
      901 acttccaggc agtagaagat ggagttctct agacagcagc acttcagccg ccactctgcc
      961 tctgaaggga aggaagggaa agggtgaggg atgccgcaga gcagagggaa ccgctgggga
     1021 ggcgctcagg gtgggggagg aggtgcaccc cgctggggag ggcctgctgg tacctcgggg
     1081 agcctggctg gggtgtgtgc gaaggcagtt ctgtgggagc ctctcaaagt agggcaggca
     1141 ggaggcaggg ggaaagtcac actagggaag gagcctgcag aggcaaagcc agagcgccag
     1201 cctgacccag gccgtgagcc cgtgatcgcc tgtctcagct cctgtcagcc tgtctctctc
     1261 tttggaggca tcggccttcc tggtgacagg cctgtcaggc tgagggccag agggcactgt
     1321 tcccgggacc cagtctgtgt tccccgatcc tatctgcatt tattctctat ttgccatgtt
     1381 cctgtcacct catccttgct gccatttccg agttgctcat ctccttccac tggtctgagg
     1441 aattgtcagg ccaaggtcat ggagctggct cacggcccag acgcacttcc ccagggcagc
     1501 gcccctccac gccactgttc cgagaacctg cgcaggaggt ggtggctgct ccagggatcc
     1561 atccagagga agggcgggaa aaagagagga aggggctgct ggcggccagc ggggctgtgg
     1621 ctgcctgggc ttggaggttg cctgggcagc tggggtgcca tgtgggccgg gtgggggggc
     1681 tgtctccccc agggagcagg ctggctttgg tgggagcaga ttgtgtttac accttccccg
     1741 cacacccagc ccacgctcgc ctcttattcc cggggcctct cccacccctg ggctctctgc
     1801 gcagtctgca catttgcagc tcctgctgca gaaagttacc tctctcagcc tagagctccc
     1861 cacagaaggc tcctgggacc cgggtgcccc ttccttggcc cactggctcc catcacaggg
     1921 cttagtgtga agctcagggc aagggtggac ctttaaatgg gggaattaaa tcctgactat
     1981 gacactgtc
//
LOCUS       NM_001077621            1618 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens VPS37D subunit of ESCRT-I (VPS37D), mRNA.
ACCESSION   NM_001077621
VERSION     NM_001077621.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1618)
  AUTHORS   Flower TG, Takahashi Y, Hudait A, Rose K, Tjahjono N, Pak AJ, Yokom
            AL, Liang X, Wang HG, Bouamr F, Voth GA and Hurley JH.
  TITLE     A helical assembly of human ESCRT-I scaffolds reverse-topology
            membrane scission
  JOURNAL   Nat Struct Mol Biol 27 (6), 570-580 (2020)
   PUBMED   32424346
REFERENCE   2  (bases 1 to 1618)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1618)
  AUTHORS   Cornelis MC, Byrne EM, Esko T, Nalls MA, Ganna A, Paynter N, Monda
            KL, Amin N, Fischer K, Renstrom F, Ngwa JS, Huikari V, Cavadino A,
            Nolte IM, Teumer A, Yu K, Marques-Vidal P, Rawal R, Manichaikul A,
            Wojczynski MK, Vink JM, Zhao JH, Burlutsky G, Lahti J, Mikkila V,
            Lemaitre RN, Eriksson J, Musani SK, Tanaka T, Geller F, Luan J, Hui
            J, Magi R, Dimitriou M, Garcia ME, Ho WK, Wright MJ, Rose LM,
            Magnusson PK, Pedersen NL, Couper D, Oostra BA, Hofman A, Ikram MA,
            Tiemeier HW, Uitterlinden AG, van Rooij FJ, Barroso I, Johansson I,
            Xue L, Kaakinen M, Milani L, Power C, Snieder H, Stolk RP,
            Baumeister SE, Biffar R, Gu F, Bastardot F, Kutalik Z, Jacobs DR Jr,
            Forouhi NG, Mihailov E, Lind L, Lindgren C, Michaelsson K, Morris A,
            Jensen M, Khaw KT, Luben RN, Wang JJ, Mannisto S, Perala MM, Kahonen
            M, Lehtimaki T, Viikari J, Mozaffarian D, Mukamal K, Psaty BM,
            Doring A, Heath AC, Montgomery GW, Dahmen N, Carithers T, Tucker KL,
            Ferrucci L, Boyd HA, Melbye M, Treur JL, Mellstrom D, Hottenga JJ,
            Prokopenko I, Tonjes A, Deloukas P, Kanoni S, Lorentzon M, Houston
            DK, Liu Y, Danesh J, Rasheed A, Mason MA, Zonderman AB, Franke L,
            Kristal BS, Karjalainen J, Reed DR, Westra HJ, Evans MK, Saleheen D,
            Harris TB, Dedoussis G, Curhan G, Stumvoll M, Beilby J, Pasquale LR,
            Feenstra B, Bandinelli S, Ordovas JM, Chan AT, Peters U, Ohlsson C,
            Gieger C, Martin NG, Waldenberger M, Siscovick DS, Raitakari O,
            Eriksson JG, Mitchell P, Hunter DJ, Kraft P, Rimm EB, Boomsma DI,
            Borecki IB, Loos RJ, Wareham NJ, Vollenweider P, Caporaso N, Grabe
            HJ, Neuhouser ML, Wolffenbuttel BH, Hu FB, Hypponen E, Jarvelin MR,
            Cupples LA, Franks PW, Ridker PM, van Duijn CM, Heiss G, Metspalu A,
            North KE, Ingelsson E, Nettleton JA, van Dam RM and Chasman DI.
  CONSRTM   Coffee and Caffeine Genetics Consortium; International Parkinson's
            Disease Genomics Consortium (IPDGC); North American Brain Expression
            Consortium (NABEC); UK Brain Expression Consortium (UKBEC)
  TITLE     Genome-wide meta-analysis identifies six novel loci associated with
            habitual coffee consumption
  JOURNAL   Mol Psychiatry 20 (5), 647-656 (2015)
   PUBMED   25288136
  REMARK    Review article
REFERENCE   4  (bases 1 to 1618)
  AUTHORS   Weissglas-Volkov D, Aguilar-Salinas CA, Nikkola E, Deere KA,
            Cruz-Bautista I, Arellano-Campos O, Munoz-Hernandez LL,
            Gomez-Munguia L, Ordonez-Sanchez ML, Reddy PM, Lusis AJ, Matikainen
            N, Taskinen MR, Riba L, Cantor RM, Sinsheimer JS, Tusie-Luna T and
            Pajukanta P.
  TITLE     Genomic study in Mexicans identifies a new locus for triglycerides
            and refines European lipid loci
  JOURNAL   J Med Genet 50 (5), 298-308 (2013)
   PUBMED   23505323
REFERENCE   5  (bases 1 to 1618)
  AUTHORS   Agromayor M, Soler N, Caballe A, Kueck T, Freund SM, Allen MD,
            Bycroft M, Perisic O, Ye Y, McDonald B, Scheel H, Hofmann K, Neil
            SJ, Martin-Serrano J and Williams RL.
  TITLE     The UBAP1 subunit of ESCRT-I interacts with ubiquitin via a SOUBA
            domain
  JOURNAL   Structure 20 (3), 414-428 (2012)
   PUBMED   22405001
REFERENCE   6  (bases 1 to 1618)
  AUTHORS   Hurley JH and Hanson PI.
  TITLE     Membrane budding and scission by the ESCRT machinery: it's all in
            the neck
  JOURNAL   Nat Rev Mol Cell Biol 11 (8), 556-566 (2010)
   PUBMED   20588296
  REMARK    Review article
REFERENCE   7  (bases 1 to 1618)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   8  (bases 1 to 1618)
  AUTHORS   Morita E, Sandrin V, Alam SL, Eckert DM, Gygi SP and Sundquist WI.
  TITLE     Identification of human MVB12 proteins as ESCRT-I subunits that
            function in HIV budding
  JOURNAL   Cell Host Microbe 2 (1), 41-53 (2007)
   PUBMED   18005716
REFERENCE   9  (bases 1 to 1618)
  AUTHORS   Stuchell MD, Garrus JE, Muller B, Stray KM, Ghaffarian S, McKinnon
            R, Krausslich HG, Morham SG and Sundquist WI.
  TITLE     The human endosomal sorting complex required for transport (ESCRT-I)
            and its role in HIV-1 budding
  JOURNAL   J Biol Chem 279 (34), 36059-36071 (2004)
   PUBMED   15218037
REFERENCE   10  (bases 1 to 1618)
  AUTHORS   Lippincott-Schwartz J, Roberts TH and Hirschberg K.
  TITLE     Secretory protein trafficking and organelle dynamics in living cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC029730.1, SRR3476690.88291.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968189,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000324941.5/ ENSP00000320416.4
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073846.6 and AY081952.1.
            On Nov 23, 2018 this sequence version replaced NM_001077621.1.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1618
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..1618
                     /gene="VPS37D"
                     /gene_synonym="WBSCR24"
                     /note="VPS37D subunit of ESCRT-I"
                     /db_xref="GeneID:155382"
                     /db_xref="HGNC:HGNC:18287"
                     /db_xref="MIM:610039"
     CDS             129..884
                     /gene="VPS37D"
                     /gene_synonym="WBSCR24"
                     /note="Williams-Beuren syndrome critical region protein 24;
                     vacuolar protein sorting 37 homolog D; Williams Beuren
                     syndrome chromosome region 24; ESCRT-I complex subunit
                     VPS37D; williams-Beuren syndrome region protein 24; VPS37D,
                     ESCRT-I subunit; williams-Beuren syndrome chromosomal
                     region 24 protein; vacuolar protein sorting 37D"
                     /codon_start=1
                     /product="vacuolar protein sorting-associated protein 37D"
                     /protein_id="NP_001071089.1"
                     /db_xref="CCDS:CCDS43596.1"
                     /db_xref="GeneID:155382"
                     /db_xref="HGNC:HGNC:18287"
                     /db_xref="MIM:610039"
                     /translation="MYRARAARAGPEPGSPGRFGILSTGQLRDLLQDEPKLDRIVRLSR
                     KFQGLQLEREACLASNYALAKENLALRPRLEMGRAALAIKYQELREVAENCADKLQRLE
                     ESMHRWSPHCALGWLQAELEEAEQEAEEQMEQLLLGEQSLEAFLPAFQRGRALAHLRRT
                     QAEKLQELLRRRERSAQPAPTSAADPPKSFPAAAVLPTGAARGPPAVPRSLPPLDSRPV
                     PPLKGSPGCPLGPAPLLSPRPSQPEPPHR"
     misc_feature    648..881
                     /gene="VPS37D"
                     /gene_synonym="WBSCR24"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86XT2.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      1596..1601
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VPS37D"
                     /gene_synonym="WBSCR24"
                     /note="hexamer: AATAAA"
     polyA_site      1618
                     /gene="VPS37D"
                     /gene_synonym="WBSCR24"
                     /note="major polyA site"
ORIGIN
        1 ggagcggtgc gtgcggccgg agccggagcg gatcctggag ccggagcgga gcggagcgga
       61 gcggagccgg ggcggagcgg gccgagcggg ccgagccagc agccgagctg ggggcgcggg
      121 cgggcggcat gtaccgggcc cgggcggcgc gggcggggcc ggagcccggc agcccggggc
      181 gctttgggat cctcagcacc gggcagctcc gggacctgct tcaggatgag cccaagctgg
      241 accggatcgt gcggctcagc aggaagttcc agggcctgca gctggagcgt gaggcctgcc
      301 tggcctccaa ctacgcgctg gccaaggaga acctggccct gcggccccgc ctggagatgg
      361 gccgggctgc cctggccatc aaataccagg agcttcgtga ggtggccgag aactgcgcgg
      421 acaagctgca gcgactggag gaaagcatgc atcgctggag tccccactgc gcgctgggct
      481 ggctgcaggc tgagctagaa gaggcggagc aggaggcaga ggagcagatg gagcagctgc
      541 tgctcgggga gcaaagcctg gaggccttcc tgcctgcctt ccagcgtggc cgcgccctgg
      601 cccacctgag gcggacgcag gcagagaagc tgcaggagct gctgcggcgt cgggagcgtt
      661 ctgcccagcc ggcccccacc tcggctgctg atccccccaa atccttcccg gctgcagctg
      721 tcctgcccac tggggccgcc cgggggccac cagcagtgcc ccggagcctg ccccccttgg
      781 actcccgccc agtgccccca ctgaagggct cccccgggtg ccccctcggc ccggcccccc
      841 tgctgagccc tcggccctcg cagccagagc ccccccaccg gtaggatcca cggtgcggcc
      901 ccccagttgg ggggcctaga caaacttgat gcgtggctcc tcctcctccc ccactgcctg
      961 ggtgggggga ggggcaggcc cctccccctg gcctcaggca ggccctggcc ctggaggctg
     1021 agctggggag gagggtcccc tggaagaggc ccgagagggg gctgggggtg ggtgggcagg
     1081 gctttatgcc tctggcgctg aagacaccct gccttttttg tttccgtgcc ccggggcctc
     1141 tagggtgatg gaccagcccc gttaaagaac ttgactcaac tacaggggcc tgggaagatg
     1201 cctgggtccc ctaggggcct tgccaagggg acctgtcgca ccccaccact ccactgggct
     1261 cgcacaacgc caaggccgcc aggagtgttt tacatcatgt cctgagccta cctttccccc
     1321 aaattctggg gcccacagcc taggagccag gtgatcaggc ctcggctgtg gggccaggga
     1381 caccatggcc ctggggctac tacgtgtcca cacatgctcc agaccctggg gcaaggtagg
     1441 ccaggggctt ctgacctgtg caggtgagag tgggccatac ccaggaaaga ccattctgta
     1501 tttttctgtc cctgtctcct tagaatggaa gctttttgag ggcaggtcct tgtctttgta
     1561 cgttctgtcc ccagccccgc ctcttagggg ccgtcaataa atgtgatgat gaggatga
//
LOCUS       NM_001077624            4255 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens zinc finger protein 846 (ZNF846), transcript variant 1,
            mRNA.
ACCESSION   NM_001077624
VERSION     NM_001077624.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4255)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC118576.1, SRR18074967.3141212.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000397902.7/ ENSP00000380999.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008752.6.
            On Aug 10, 2021 this sequence version replaced NM_001077624.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..4255
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..4255
                     /gene="ZNF846"
                     /note="zinc finger protein 846"
                     /db_xref="GeneID:162993"
                     /db_xref="HGNC:HGNC:27260"
     misc_feature    482..484
                     /gene="ZNF846"
                     /note="upstream in-frame stop codon"
     CDS             536..2137
                     /gene="ZNF846"
                     /note="isoform 1 is encoded by transcript variant 1; zinc
                     finger protein 420 pseudogene"
                     /codon_start=1
                     /product="zinc finger protein 846 isoform 1"
                     /protein_id="NP_001071092.1"
                     /db_xref="CCDS:CCDS42496.1"
                     /db_xref="GeneID:162993"
                     /db_xref="HGNC:HGNC:27260"
                     /translation="MDSSQHLVTFEDVAVDFTQEEWTLLDQAQRDLYRDVMLENYKNLI
                     ILAGSELFKRSLMSGLEQMEELRTGVTGVLQELDLQLKTKGSPLLQDISAERSPNGVQL
                     ERSNTAEKLYDSNHSGKVFNEHPFLMTHMITHIGEKTSEDNQSGKALRKNFPHSFYKKS
                     HAEGKMPKCVKHEKAFNQFPNLTRQNKTHTQEKLCECKDCWRTFLNQSSLKLHIRSHNG
                     DKHYVCKECGKAFSNSSHLIGHGRIHSGEKPYVCKECGKAFTQSTGLKLHIRTHSGEKP
                     YKCKECGKAFTHSSYLTDHTRIHSGKKPYVCMECGKAFTRSTGLILHMRIHTGEKPYEC
                     KECGKAFIHSSYLTKHVRIHSGEKLYLCKACGKAFTRSSGLVLHMRTHTGEKPYECKEC
                     GKAFNNSSMLSQHVRIHTGEKPYECKECGKAFTQSSGLSTHLRTHTGEKACECKECGKA
                     FARSTNLNMHMRTHTGEKPYACKECGKAFRYSTYLNVHTRTHTGAKPYECKKCGKNFTQ
                     SSALAKHLRTKACEKT"
     regulatory      4236..4241
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF846"
                     /note="hexamer: AATAAA"
     polyA_site      4255
                     /gene="ZNF846"
                     /note="major polyA site"
ORIGIN
        1 atacgtattc cccgctctcc agcagcttcc tagctgggtt ttcacctcag ccagcgctca
       61 tgctcaacct aggcagggcg gggcaggagg gcctagcggg aggcggagcg agggtcggag
      121 ggtgacgctc cggacttctg ctaggtctga gacgcgccgg cctcccgctg ctgctccgga
      181 gaagcggcgc ctcctccccg ccaggacccc gaggcggggg gttcccgcct tctcttctga
      241 gcgcctcttc ccgctgcgcc cgcatcagtc tgggcctggc ccagggtccc cggtggagac
      301 gtgttttttt ctccaaccac cgtgcccctc tgtttaaaag cagccagtca acctttgtgt
      361 cctttctcca gaaggaaaag catctcagct gttgtggaaa agggccccag cgtcctcttg
      421 tcaccgacag ggcgattgca gtgcgttccg gtcatttttt ccaggacact ttctgtcttc
      481 atgacaggaa catcgagaag ccaaggctag tggctgggtt actgatggat tactgatgga
      541 ttcttctcag cacttagtga cctttgagga tgtggctgtg gactttaccc aggaggagtg
      601 gactttgttg gatcaagccc agagagatct ctacagagat gtgatgttgg agaactacaa
      661 gaatctcatt atactagcag ggtctgaatt attcaaacgt agtctcatgt ctggattgga
      721 acaaatggaa gagctgagga caggagtgac aggagttctg caggaattgg atttgcaact
      781 caaaaccaaa ggctccccac tgctgcaaga tatttctgca gaaagatcac caaatggagt
      841 acaattggag agaagcaata ctgcagagaa actgtatgac tctaaccatt ctggaaaagt
      901 cttcaatgaa cacccatttc ttatgactca catgataact cacattggag agaaaacttc
      961 tgaggataat cagagtggaa aagccttaag aaagaacttt cctcatagtt tttacaagaa
     1021 aagtcatgct gaggggaaaa tgcctaagtg tgttaaacat gaaaaagcct tcaaccagtt
     1081 tccaaatctt actaggcaga ataaaactca cacacaagag aaattgtgtg aatgcaaaga
     1141 ctgttggaga acttttctta atcagtcatc ccttaagtta catataagat ctcacaatgg
     1201 agacaaacac tatgtatgta aggaatgtgg gaaagccttc agtaattcct cacaccttat
     1261 aggacatgga agaattcaca gtggagagaa gccctatgtc tgtaaagaat gtggtaaagc
     1321 tttcactcaa tccacaggac ttaaattaca catcagaact cacagtggag aaaaaccata
     1381 taaatgtaaa gagtgtggga aagccttcac ccattcttca taccttactg atcatacaag
     1441 aatccacagt ggaaagaagc cctatgtatg tatggaatgt ggaaaagcct tcactagatc
     1501 cacaggactt attttacaca tgcgaattca cactggagaa aagccatatg aatgtaagga
     1561 gtgtggaaaa gcttttattc attcctcata ccttacaaaa catgtaagga ttcacagtgg
     1621 agagaagctg tatttatgta aggcatgtgg gaaagctttt actcgttcct caggacttgt
     1681 tttacacatg agaacacata ctggagaaaa gccctatgaa tgtaaagaat gtgggaaagc
     1741 ctttaataat tcctcaatgc ttagtcaaca tgtaaggatt cacactggag agaagccata
     1801 tgaatgcaaa gaatgtggga aagctttcac tcaatcctcg ggccttagta cccatttaag
     1861 aactcacact ggagaaaagg cctgtgaatg taaggaatgc ggtaaagcat ttgctcgttc
     1921 cacaaatctt aatatgcaca tgcgaacgca cacaggagaa aagccttatg catgtaaaga
     1981 atgtgggaaa gccttcaggt attccacata ccttaacgtt cacacacgaa ctcacactgg
     2041 agcaaaacca tatgaatgta agaaatgtgg gaaaaacttc actcaatctt cagcacttgc
     2101 taaacatcta agaactaagg catgtgaaaa aacctgaagt gttcctcaga tcttagtatt
     2161 tacatctaaa ctcatctgga aaaaaatcat aggaaggtaa agaatatgaa caaccttcac
     2221 tgaatttcca tatcttatat aataggaatg aatttaacat ggacacaagt cccagtgata
     2281 taaggaatag gcaagagtag taattcttca catcttataa agtgtaagaa ctcacctttg
     2341 ggagaaaaat ctggttctaa ggcatgtggt aaagcctttg tttcttccac tattgtttat
     2401 ttttcttttt tttttttgag acagagtctc tctctctcac ccaggctgga gtacagtggc
     2461 atgaccttgg cccactgcaa cctctgcctc ctgggttcaa ggaattctcc cacctcagcc
     2521 tcccgagtag ctgggactac gggcatgtgc caccatgccc agctaatttt ttgtattttt
     2581 agtagagaca gggtttcacc atgttagcca ggatggtctc gatctcccga tctcatgatc
     2641 tgcccgcctt ggccttccaa agtactggga ttacaggctt gagccaccac acccagcata
     2701 ttgtttattt ttcataacaa aaattactgt aaaagccaat tgaaggtaag aatgagagat
     2761 agccttaaaa tacttcacaa accttcatag tacttcataa tcaacactgg agaaaaaccc
     2821 tctgtatgta aggaatgtga taaaacattt acttagtgct caggacttaa tatctacatg
     2881 agaattcaca gtggtataaa accctacaaa tgtaaaggct acaagatctt cacttatgcc
     2941 ttttaataac tcaacatcaa agaactcaca gtgggcagat agcctatata tgtaagaaat
     3001 ctgggacagc cttcagaaat ttctgacagt ttcagatata agaaacctca tcaatttaag
     3061 atgtgttaag aattcttcca gtgttactaa gtcagtcaac atgcgttgga gagaaactct
     3121 atgaaggtaa gatgtgggaa atctttactt ctgtctcatg tgttaatatt tggtaatctc
     3181 aaagaggcca gaaacattat gaatgttaga aatatgggaa tgtctttata tatatatata
     3241 tatatatata tatatatata tatatacaca cacacacaca cacatatata tgcacacaca
     3301 catacacaca cgtatgtatt atttcatcct ttaatataaa tgataattca tactggagag
     3361 aaatcttgat aatacagaat gagggaaatg ttgcatccat tttacaagtc ttactatact
     3421 tgtgaaaacc cacactgcaa acaagctata tgaatgtgaa aatatgagaa tatgctgggc
     3481 gtggtgactc atgcttgtaa tcccagcact ttaggaggcc gaggtgggca gatcatttga
     3541 ggtcaggagt ttgagaccag cctgccaaca tggttaaacc tcatctctac taaaaataca
     3601 aaaattagcc aagtatggtg gcgggtgcct ttaatcccaa ttgcttggga ggctgaggca
     3661 ggagaattgt gtgaacccag gagacagagg ttgcagtgag ccaagatttt gccactacac
     3721 tccagcctgg gtgacagagc aaaactccat ctcaaaaaaa aaaaaaatct ggtaatactt
     3781 tttttttttt tttttttttt tttttttttt ttgagacgga gtctcgctct gtcgcccagg
     3841 ctggagtgca gtggcgggat ctcggctcac tgcaagctcc gcctcccggg ttcacgccat
     3901 tctcctgcct cagcctccca agtagctggg actacaggcg cccgccacta cgcccggcta
     3961 attttttgta tttttagtag agacggggtt tcaccgtttt agccgggatg gtctcgatct
     4021 cctgaccttg tgatccgccc gcttcggcct cccaaagtgc tgggattaca ggcgtgagcc
     4081 accgcgcccg gcctggtaat acttttagca gtacatattc cttaagtgcc tctgaaaata
     4141 ctcactggaa gaataaacta tgaatctgag gagttatggg aagctttcag atactactgt
     4201 tactgtacac aagatcatac tagaggagaa attgaaataa atgacatgaa aatga
//
LOCUS       NM_001077628            1730 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens aph-1 homolog A, gamma-secretase subunit (APH1A),
            transcript variant 1, mRNA.
ACCESSION   NM_001077628
VERSION     NM_001077628.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1730)
  AUTHORS   Watanabe H, Yoshida C, Hidaka M, Ogawa T, Tomita T and Futai E.
  TITLE     Specific Mutations in Aph1 Cause gamma-Secretase Activation
  JOURNAL   Int J Mol Sci 23 (1), 507 (2022)
   PUBMED   35008932
  REMARK    GeneRIF: Specific Mutations in Aph1 Cause gamma-Secretase
            Activation. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1730)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1730)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1730)
  AUTHORS   Szaruga M, Munteanu B, Lismont S, Veugelen S, Horre K, Mercken M,
            Saido TC, Ryan NS, De Vos T, Savvides SN, Gallardo R, Schymkowitz J,
            Rousseau F, Fox NC, Hopf C, De Strooper B and Chavez-Gutierrez L.
  TITLE     Alzheimer's-Causing Mutations Shift Abeta Length by Destabilizing
            gamma-Secretase-Abetan Interactions
  JOURNAL   Cell 170 (3), 443-456 (2017)
   PUBMED   28753424
  REMARK    GeneRIF: Using purified PSEN1/Aph1A gamma-secretase and the
            APPC99-3XFLAG substrate, authors show that substrate shortening
            progressively destabilizes the consecutive enzyme-substrate
            complexes that characterize the sequential gamma-secretase
            processing of APP; present a unifying model for how PSEN or APP
            mutations enhance amyloidogenic Abeta production, suggests that
            environmental factors may increase Alzheimer's Disease risk.
            Erratum:[Cell. 2021 Apr 15;184(8):2257-2258. PMID: 33861967]
REFERENCE   5  (bases 1 to 1730)
  AUTHORS   Yonemura Y, Futai E, Yagishita S, Kaether C and Ishiura S.
  TITLE     Specific combinations of presenilins and Aph1s affect the substrate
            specificity and activity of gamma-secretase
  JOURNAL   Biochem Biophys Res Commun 478 (4), 1751-1757 (2016)
   PUBMED   27608597
  REMARK    GeneRIF: Data show that presenilin 1
            (PS1)/anterior-pharynx-defective protein 1 (Aph1b), presenilin 2
            (PS2)/Aph1aL, PS2/Aph1aS and PS2/anterior pharynx defective 1
            homolog B (Aph1b) gamma-secretase produced amyloid beta peptide
            (Abeta) with a higher Abeta42+Abeta43-to-Abeta40
            (Abeta42(43)/Abeta40) ratio than the other gamma-secretases.
REFERENCE   6  (bases 1 to 1730)
  AUTHORS   Luo WJ, Wang H, Li H, Kim BS, Shah S, Lee HJ, Thinakaran G, Kim TW,
            Yu G and Xu H.
  TITLE     PEN-2 and APH-1 coordinately regulate proteolytic processing of
            presenilin 1
  JOURNAL   J Biol Chem 278 (10), 7850-7854 (2003)
   PUBMED   12522139
REFERENCE   7  (bases 1 to 1730)
  AUTHORS   Gu Y, Chen F, Sanjo N, Kawarai T, Hasegawa H, Duthie M, Li W, Ruan
            X, Luthra A, Mount HT, Tandon A, Fraser PE and St George-Hyslop P.
  TITLE     APH-1 interacts with mature and immature forms of presenilins and
            nicastrin and may play a role in maturation of presenilin.nicastrin
            complexes
  JOURNAL   J Biol Chem 278 (9), 7374-7380 (2003)
   PUBMED   12471034
  REMARK    GeneRIF: APH-1 binds to presenilins and nicastrin and may play a
            role in maturation of presenilin-nicastrin complexes
REFERENCE   8  (bases 1 to 1730)
  AUTHORS   Lee SF, Shah S, Li H, Yu C, Han W and Yu G.
  TITLE     Mammalian APH-1 interacts with presenilin and nicastrin and is
            required for intramembrane proteolysis of amyloid-beta precursor
            protein and Notch
  JOURNAL   J Biol Chem 277 (47), 45013-45019 (2002)
   PUBMED   12297508
  REMARK    GeneRIF: These data indicate that mammalian APH-1 (mAPH-1) along
            with presenilin 1 and nicastrin is probably a functional component
            of the gamma-secretase complex required for the intramembrane
            proteolysis of APP and Notch
REFERENCE   9  (bases 1 to 1730)
  AUTHORS   Francis R, McGrath G, Zhang J, Ruddy DA, Sym M, Apfeld J, Nicoll M,
            Maxwell M, Hai B, Ellis MC, Parks AL, Xu W, Li J, Gurney M, Myers
            RL, Himes CS, Hiebsch R, Ruble C, Nye JS and Curtis D.
  TITLE     aph-1 and pen-2 are required for Notch pathway signaling,
            gamma-secretase cleavage of betaAPP, and presenilin protein
            accumulation
  JOURNAL   Dev Cell 3 (1), 85-97 (2002)
   PUBMED   12110170
REFERENCE   10  (bases 1 to 1730)
  AUTHORS   De Strooper B, Annaert W, Cupers P, Saftig P, Craessaerts K, Mumm
            JS, Schroeter EH, Schrijvers V, Wolfe MS, Ray WJ, Goate A and Kopan
            R.
  TITLE     A presenilin-1-dependent gamma-secretase-like protease mediates
            release of Notch intracellular domain
  JOURNAL   Nature 398 (6727), 518-522 (1999)
   PUBMED   10206645
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC020590.1, SRR3476690.1095910.1
            [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000369109.8/ ENSP00000358105.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC365601.1, BC020590.1 and
            BI760743.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001077628.2.
            Summary: This gene encodes a component of the gamma secretase
            complex that cleaves integral membrane proteins such as Notch
            receptors and beta-amyloid precursor protein. The gamma secretase
            complex contains this gene product, or the paralogous anterior
            pharynx defective 1 homolog B (APH1B), along with the presenilin,
            nicastrin, and presenilin enhancer-2 proteins. The precise function
            of this seven-transmembrane-domain protein is unknown though it is
            suspected of facilitating the association of nicastrin and
            presenilin in the gamma secretase complex as well as interacting
            with substrates of the gamma secretase complex prior to their
            proteolytic processing. Polymorphisms in a promoter region of this
            gene have been associated with an increased risk for developing
            sporadic Alzheimer's disease. Alternative splicing results in
            multiple protein-coding and non-protein-coding transcript variants.
            [provided by RefSeq, Aug 2011].
            Transcript Variant: This variant (1) encodes the longest isoform
            (1; also known as isoform L).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1730
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     gene            1..1730
                     /gene="APH1A"
                     /gene_synonym="6530402N02Rik; APH-1; APH-1A; CGI-78"
                     /note="aph-1 homolog A, gamma-secretase subunit"
                     /db_xref="GeneID:51107"
                     /db_xref="HGNC:HGNC:29509"
                     /db_xref="MIM:607629"
     misc_feature    198..200
                     /gene="APH1A"
                     /gene_synonym="6530402N02Rik; APH-1; APH-1A; CGI-78"
                     /note="upstream in-frame stop codon"
     CDS             207..1004
                     /gene="APH1A"
                     /gene_synonym="6530402N02Rik; APH-1; APH-1A; CGI-78"
                     /note="isoform 1 is encoded by transcript variant 1;
                     gamma-secretase subunit APH-1A; aph-1alpha; APH1A gamma
                     secretase subunit; presenilin-stabilization factor;
                     anterior pharynx defective 1 homolog A"
                     /codon_start=1
                     /product="gamma-secretase subunit APH-1A isoform 1"
                     /protein_id="NP_001071096.1"
                     /db_xref="CCDS:CCDS41390.1"
                     /db_xref="GeneID:51107"
                     /db_xref="HGNC:HGNC:29509"
                     /db_xref="MIM:607629"
                     /translation="MGAAVFFGCTFVAFGPAFALFLITVAGDPLRVIILVAGAFFWLVS
                     LLLASVVWFILVHVTDRSDARLQYGLLIFGAAVSVLLQEVFRFAYYKLLKKADEGLASL
                     SEDGRSPISIRQMAYVSGLSFGIISGVFSVINILADALGPGVVGIHGDSPYYFLTSAFL
                     TAAIILLHTFWGVVFFDACERRRYWALGLVVGSHLLTSGLTFLNPWYEASLLPIYAVTV
                     SMGLWAFITAGGSLRSIQRSLLCRRQEDSRVMVYSALRIPPED"
     misc_feature    213..275
                     /gene="APH1A"
                     /gene_synonym="6530402N02Rik; APH-1; APH-1A; CGI-78"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI3.1);
                     transmembrane region"
     misc_feature    300..362
                     /gene="APH1A"
                     /gene_synonym="6530402N02Rik; APH-1; APH-1A; CGI-78"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI3.1);
                     transmembrane region"
     misc_feature    411..473
                     /gene="APH1A"
                     /gene_synonym="6530402N02Rik; APH-1; APH-1A; CGI-78"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI3.1);
                     transmembrane region"
     misc_feature    561..623
                     /gene="APH1A"
                     /gene_synonym="6530402N02Rik; APH-1; APH-1A; CGI-78"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI3.1);
                     transmembrane region"
     misc_feature    681..743
                     /gene="APH1A"
                     /gene_synonym="6530402N02Rik; APH-1; APH-1A; CGI-78"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI3.1);
                     transmembrane region"
     misc_feature    765..827
                     /gene="APH1A"
                     /gene_synonym="6530402N02Rik; APH-1; APH-1A; CGI-78"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI3.1);
                     transmembrane region"
     misc_feature    846..908
                     /gene="APH1A"
                     /gene_synonym="6530402N02Rik; APH-1; APH-1A; CGI-78"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96BI3.1);
                     transmembrane region"
     regulatory      1712..1717
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APH1A"
                     /gene_synonym="6530402N02Rik; APH-1; APH-1A; CGI-78"
                     /note="hexamer: AATAAA"
     polyA_site      1730
                     /gene="APH1A"
                     /gene_synonym="6530402N02Rik; APH-1; APH-1A; CGI-78"
                     /note="major polyA site"
ORIGIN
        1 ctcttcggct tccgtagagg aagtggcgcg gaccttcatt tggggtttcg gttccccccc
       61 ttccccttcc ccggggtctg ggggtgacat tgcaccgcgc ccctcgtggg gtcgcgttgc
      121 caccccacgc ggactcccca gctggcgcgc ccctcccatt tgcctgtcct ggtcaggccc
      181 ccacccccct tcccacctga ccagccatgg gggctgcggt gtttttcggc tgcactttcg
      241 tcgcgttcgg cccggccttc gcgcttttct tgatcactgt ggctggggac ccgcttcgcg
      301 ttatcatcct ggtcgcaggg gcatttttct ggctggtctc cctgctcctg gcctctgtgg
      361 tctggttcat cttggtccat gtgaccgacc ggtcagatgc ccggctccag tacggcctcc
      421 tgatttttgg tgctgctgtc tctgtccttc tacaggaggt gttccgcttt gcctactaca
      481 agctgcttaa gaaggcagat gaggggttag catcgctgag tgaggacgga agatcaccca
      541 tctccatccg ccagatggcc tatgtttctg gtctctcctt cggtatcatc agtggtgtct
      601 tctctgttat caatattttg gctgatgcac ttgggccagg tgtggttggg atccatggag
      661 actcacccta ttacttcctg acttcagcct ttctgacagc agccattatc ctgctccata
      721 ccttttgggg agttgtgttc tttgatgcct gtgagaggag acggtactgg gctttgggcc
      781 tggtggttgg gagtcaccta ctgacatcgg gactgacatt cctgaacccc tggtatgagg
      841 ccagcctgct gcccatctat gcagtcactg tttccatggg gctctgggcc ttcatcacag
      901 ctggagggtc cctccgaagt attcagcgca gcctcttgtg ccgacggcag gaggacagtc
      961 gggtgatggt gtattctgcc ctgcgcatcc cacccgagga ctgagggaac ctagggggga
     1021 cccctgggcc tggggtgccc tcctgatgtc ctcgccctgt atttctccat ctccagttct
     1081 ggacagtgca ggttgccaag aaaagggacc tagtttagcc attgccctgg agatgaaatt
     1141 aatggaggct caaggataga tgagctctga gtttctcagt actccctcaa gactggacat
     1201 cttggtcttt ttctcaggcc tgagggggaa ccatttttgg tgtgataaat accctaaact
     1261 gccttttttt cttttttgag gtggggggag ggaggaggta tattggaact cttctaacct
     1321 ccttgggcta tattttctct cctcgagttg ctcctcatgg ctgggctcat ttcggtccct
     1381 ttctccttgg tcccagacct tgggggaaag gaaggaagtg catgtttggg aactggcatt
     1441 actggaacta atggttttaa cctccttaac caccagcatc cctcctctcc ccaaggtgaa
     1501 gtggagggtg ctgtggtgag ctggccactc cagagctgca gtgccactgg aggagtcaga
     1561 ctaccatgac atcgtaggga aggaggggag atttttttgt agtttttaat tggggtgtgg
     1621 gaggggcggg gaggttttct ataaactgta tcattttctg ctgagggtgg agtgtcccat
     1681 ccttttaatc aaggtgattg tgattttgac taataaaaaa gaatttgtaa
//
LOCUS       NM_001077637            3677 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens RAB6D, member RAS oncogene family (RAB6D), mRNA.
ACCESSION   NM_001077637
VERSION     NM_001077637.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3677)
  AUTHORS   Itoh T, Satoh M, Kanno E and Fukuda M.
  TITLE     Screening for target Rabs of TBC (Tre-2/Bub2/Cdc16)
            domain-containing proteins based on their Rab-binding activity
  JOURNAL   Genes Cells 11 (9), 1023-1037 (2006)
   PUBMED   16923123
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AB232598.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000623617.3/ ENSP00000490038.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073869.5.
            On Jan 15, 2020 this sequence version replaced NM_001077637.2.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3677
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.1"
     gene            1..3677
                     /gene="RAB6D"
                     /gene_synonym="RAB6CL; WTH3DI"
                     /note="RAB6D, member RAS oncogene family"
                     /db_xref="GeneID:150786"
                     /db_xref="HGNC:HGNC:30272"
     misc_feature    419..421
                     /gene="RAB6D"
                     /gene_synonym="RAB6CL; WTH3DI"
                     /note="upstream in-frame stop codon"
     CDS             449..1213
                     /gene="RAB6D"
                     /gene_synonym="RAB6CL; WTH3DI"
                     /note="RAB6C-like; rab6-like protein WTH3DI"
                     /codon_start=1
                     /product="ras-related protein Rab-6D"
                     /protein_id="NP_001071105.1"
                     /db_xref="CCDS:CCDS82514.1"
                     /db_xref="GeneID:150786"
                     /db_xref="HGNC:HGNC:30272"
                     /translation="MSAGGDFGNPLRKFKLVFLGEQSVAKTSLITRFRYDSFDNTYQAI
                     IGIDFLSKTMYLEDGTIGLRLWDTAGQERLRSLIPRYIRDSAAAVVVYDITNVNSFQQT
                     TKWIDDVRTEGGSDVIITLVGNKTDLADKRQVSIEEGERKAKGLNVTFIETRAKAGYNV
                     KQLFRRVAAALPGMESTQDGSREDMSDIKLEKPQEQTVSEGGCSCYSPMSSSTLPQKPP
                     YSFIDCSVNIGLNLFPSLITFCNSSLLPVSWR"
     regulatory      3656..3661
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB6D"
                     /gene_synonym="RAB6CL; WTH3DI"
                     /note="hexamer: ATTAAA"
     polyA_site      3677
                     /gene="RAB6D"
                     /gene_synonym="RAB6CL; WTH3DI"
                     /note="major polyA site"
ORIGIN
        1 agaggctcgc gcactcagca ggttgggctg cggcggcggc ggctggggaa gccgaagcgc
       61 cgcgcgtgag agatcccaga tacgtctgcg gttccggctc cgccaccctc cgcctttctc
      121 ccgcaggtct tggagccggg tgaggaagaa gggaacggcc ctagccttgg gaagccaaag
      181 cacacccctg gctcctgccg acaccgccct ccttcccttc ccagccgcgg gcctcgctcg
      241 gtgctcggct actctgccgg gaggcggcgg cggctgccag tctgtggaga gtcctgctgc
      301 cctccagccg ggctcctcca ccggcccttg caggggcgca gagagctcgg cgcccgccct
      361 tccgctcgcc tttttcgtca gccggctgga gcagcatcgg tccgggaggt ctctgggctg
      421 aggcggcgac agctcctcta gttccaccat gtccgcgggc ggagacttcg ggaatccgct
      481 gaggaaattc aagctggtgt tcctggggga gcaaagcgtt gcaaagacat ctttgatcac
      541 cagattcagg tatgacagtt ttgacaacac ctatcaggca ataattggca ttgacttttt
      601 atcaaaaact atgtacttgg aggatggaac aatcgggctt cggctgtggg atacggcggg
      661 tcaggaacgt ctccgtagcc tcattcccag gtacatccgt gattctgctg cagctgtagt
      721 agtttacgat atcacaaatg ttaactcatt ccagcaaact acaaagtgga ttgatgatgt
      781 cagaacagaa ggaggaagtg atgttatcat cacgctagta ggaaataaaa cagatcttgc
      841 tgacaagagg caagtgtcaa ttgaggaggg agagaggaaa gccaaagggc tgaatgttac
      901 gtttattgaa actagggcaa aagctggata caatgtaaag cagctctttc gacgtgtagc
      961 agcagctttg ccgggaatgg aaagcacaca ggacggaagc agagaagaca tgagtgacat
     1021 aaaactggaa aagcctcagg agcaaacagt cagcgaaggg ggttgttcct gctactctcc
     1081 catgtcatct tcaacccttc ctcagaagcc cccttactct ttcattgact gcagtgtgaa
     1141 tattggcttg aaccttttcc cttcattaat aacgttttgc aattcatcat tgctgcctgt
     1201 ctcgtggaga tgatctatta gcttgacaag cacaaaaaaa gtcagcgtct tcattattta
     1261 tattttacaa aaagccaaac tatttcagcg tattccagtg ataactttaa aaattagata
     1321 cattttctta acattttttt tcttttttaa tgttatgata atgtacttca aaatgatgga
     1381 aatctcaaca gtatgagtat ggcttggtta acgagcagta tgttcacagc ctgctttatc
     1441 tctccttgct cttctcacct ctcccttacc ccgttcccta tttccgtgtt cttacctagc
     1501 ctccccccac ttcctcaaaa caaacaagag atggcaaagc agcagtccga ccaagcccac
     1561 tggaattatc ctttaatttt acagatacca cttgctgtag gctgtggacc aagatgtcca
     1621 gaattattct tgagcactga tataaattac ttagatcctc tttgaggtca gaattcagcg
     1681 atcacggtag gcagtgcttg aatgagaaaa gcctcctggt gcatcttcaa aatgagtcct
     1741 aaagaacata ctgagtactt ataagtagca gaacataaaa tgtatttctg actaaaacaa
     1801 atggtccttt cacatgtgct ttattagact ctgggagaga aaattaacca agtgcttcag
     1861 aacaggtttt tagtatttaa ttcttcatgg taagataatg acgttctaat gaactatttc
     1921 tcccaaggtt ttaaaattgt caagagttat tctgtttgtt taaaaaataa gaaacctctt
     1981 taagcaatag attttgcttg ggttttcttt ttttaaaaaa taatactatg caggcaagac
     2041 accataaaag tttaattcct tacagaagaa ccagtggaag aatttaaatt tggcactacg
     2101 atcaaaacta ctgaattagc agaaataacg atatctaaag cttaccaaca aaagaaccct
     2161 cagcagaaga gcaaaaactt tgctcaggac atttgaggtc aaattgaaga tggaaaccgg
     2221 aaaccatttt cttgtaagcc cctagaggca gatcaggtaa agcatacata gtagagggaa
     2281 aggagagaat ggaaataaaa ctgaatatta tgcagattta tgccttattt tttagcattt
     2341 ttttaaggtt gggtctttca ggctggtttt cgtttgtatg agatctgtat agtttaatta
     2401 actaatgatt tagttttata tttaagctac gattaatctt ttttctttgg tgatatttct
     2461 ttgctttttt tttaacaact ttcaattttt agatgtttcg ttgaatctat ttagagcttc
     2521 accatggcaa tatgtatttc ccttgaaaca ctgcaaacaa atatactagg agtgtgccct
     2581 tttaatcttc actagttatt gtgagattgc tgtgtaagct aataaacaca tttgtaaata
     2641 cattgtttgc aggaagaaaa cttcgagtta taggtcagga aaagcctgct gaatttatgt
     2701 tgtaaacgtt acttaacaca gtataaagat gaaaagacaa caaaaatatc ttcatacttc
     2761 ctcatcccct cattgcaaca aaaccttaaa ctgggagaac cttagtcccc tctctttcct
     2821 cttcctcctc cacttcccac ttattgtcac cttgtaatat tcagagagca cttggattat
     2881 ggatctgaat agagaaatgc ttacagataa tcattagccc acataccagt aacttacact
     2941 taaagatggg atggagttat aaagtgcttt tataatacaa tataattgct aaaggcaagg
     3001 gttgactctg ttttattttg acatggcatg tcctgaaata aatattgatt cactgtggca
     3061 gatgggtcat actctttatt tggaagaagt tgtgacttct gacatggggg tgattgcctt
     3121 cctacactgt tgcatttgat tctttttatg tattttttaa aaagtaagca gttatactgc
     3181 ttttaatatt gattggtctt tttatttggc ttggagttct tcaaagcagt gaagtgtgtt
     3241 catagtccag attttttttt agtaaacaca attttgctgc caaaaatata taaataaaac
     3301 acaaaacaaa aattaaaaaa tgttgaaaat attagaccat ctcccttttt accaccttcc
     3361 ctttttacct tttactgcca tttacatcca cacatccaca cacacaatgc tatgctatgt
     3421 ttaatagcat ttccctgatt accaatatta ggcattatat attgtctatt catgttttca
     3481 tattttgtat aatgtctata tcctttgttc attaaattgt gttatttgta ttattcttta
     3541 taattcttta acacattgct gtttatatgt tggttatatt ttacattttc ttctagttta
     3601 tgggaagtct ttttcttttc ctaagacaat ctattgataa atataagcta tgaatattaa
     3661 agttataatt aaagtta
//
LOCUS       NM_001077639            2187 bp    mRNA    linear   PRI 17-JUL-2023
DEFINITION  Homo sapiens neurexophilin and PC-esterase domain family member 4
            (NXPE4), transcript variant 1, mRNA.
ACCESSION   NM_001077639
VERSION     NM_001077639.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2187)
  AUTHORS   Liu YR, Hu Y, Zeng Y, Li ZX, Zhang HB, Deng JL and Wang G.
  TITLE     Neurexophilin and PC-esterase domain family member 4 (NXPE4) and
            prostate androgen-regulated mucin-like protein 1 (PARM1) as
            prognostic biomarkers for colorectal cancer
  JOURNAL   J Cell Biochem 120 (10), 18041-18052 (2019)
   PUBMED   31297877
  REMARK    GeneRIF: Neurexophilin and PC-esterase domain family member 4
            (NXPE4) and prostate androgen-regulated mucin-like protein 1 (PARM1)
            as prognostic biomarkers for colorectal cancer.
REFERENCE   2  (bases 1 to 2187)
  AUTHORS   Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee
            JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K,
            Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z,
            Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN,
            Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A,
            Boucher G, Brand S, Buning C, Cohain A, Cichon S, D'Amato M, De Jong
            D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR,
            Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J,
            Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH,
            Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees
            CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W,
            Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter
            JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms
            LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget
            HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ,
            Zeissig S, Zhang B, Zhang CK, Zhao H, Silverberg MS, Annese V,
            Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt
            EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC and Cho JH.
  CONSRTM   International IBD Genetics Consortium (IIBDGC)
  TITLE     Host-microbe interactions have shaped the genetic architecture of
            inflammatory bowel disease
  JOURNAL   Nature 491 (7422), 119-124 (2012)
   PUBMED   23128233
REFERENCE   3  (bases 1 to 2187)
  AUTHORS   Anantharaman V and Aravind L.
  TITLE     Novel eukaryotic enzymes modifying cell-surface biopolymers
  JOURNAL   Biol Direct 5, 1 (2010)
   PUBMED   20056006
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2187)
  AUTHORS   Gonzalez-Begne M, Lu B, Han X, Hagen FK, Hand AR, Melvin JE and
            Yates JR.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   5  (bases 1 to 2187)
  AUTHORS   Solmi R, De Sanctis P, Zucchini C, Ugolini G, Rosati G, Del
            Governatore M, Coppola D, Yeatman TJ, Lenzi L, Caira A, Zanotti S,
            Taffurelli M, Carinci P, Valvassori L and Strippoli P.
  TITLE     Search for epithelial-specific mRNAs in peripheral blood of patients
            with colon cancer by RT-PCR
  JOURNAL   Int J Oncol 25 (4), 1049-1056 (2004)
   PUBMED   15375555
REFERENCE   6  (bases 1 to 2187)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DRR138528.205481.1, AY358805.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968832,
            SAMEA2156266 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000375478.4/ ENSP00000364627.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC020549.4, DA428771.1, AY358805.1 and AK000134.1.
            On May 17, 2019 this sequence version replaced NM_001077639.1.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
FEATURES             Location/Qualifiers
     source          1..2187
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.2-q23.3"
     gene            1..2187
                     /gene="NXPE4"
                     /gene_synonym="C11orf33; FAM55D"
                     /note="neurexophilin and PC-esterase domain family member
                     4"
                     /db_xref="GeneID:54827"
                     /db_xref="HGNC:HGNC:23117"
                     /db_xref="MIM:618133"
     misc_feature    191..193
                     /gene="NXPE4"
                     /gene_synonym="C11orf33; FAM55D"
                     /note="upstream in-frame stop codon"
     CDS             206..1840
                     /gene="NXPE4"
                     /gene_synonym="C11orf33; FAM55D"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; protein FAM55D; family with sequence similarity 55,
                     member D; NXPE family member 4"
                     /codon_start=1
                     /product="NXPE family member 4 isoform 1 precursor"
                     /protein_id="NP_001071107.1"
                     /db_xref="CCDS:CCDS41718.1"
                     /db_xref="GeneID:54827"
                     /db_xref="HGNC:HGNC:23117"
                     /db_xref="MIM:618133"
                     /translation="MKISMINYKSLLALLFILASWIIFTVFQNSTKVWSALNLSISLHY
                     WNNSTKSLFPKTPLISLKPLTETELRIKEIIEKLDQQIPPRPFTHVNTTTSATHSTATI
                     LNPRDTYCRGDQLHILLEVRDHLGRRKQYGGDFLRARMSSPALMAGASGKVTDFNNGTY
                     LVSFTLFWEGQVSLSLLLIHPSEGVSALWSARNQGYDRVIFTGQFVNGTSQVHSECGLI
                     LNTNAELCQYLDNRDQEGFYCVRPQHMPCAALTHMYSKNKKVSYLSKQEKSLFERSNVG
                     VEIMEKFNTISVSKCNKETVAMKEKCKFGMTSTIPSGHVWRNTWNPVSCSLATVKMKEC
                     LRGKLIYLMGDSTIRQWMEYFKASINTLKSVDLHESGKLQHQLAVDLDRNINIQWQKYC
                     YPLIGSMTYSVKEMEYLTRAIDRTGGEKNTVIVISLGQHFRPFPIDVFIRRALNVHKAI
                     QHLLLRSPDTMVIIKTENIREMYNDAERFSDFHGYIQYLIIKDIFQDLSVSIIDAWDIT
                     IAYGTNNVHPPQHVVGNQINILLNYIC"
     sig_peptide     206..286
                     /gene="NXPE4"
                     /gene_synonym="C11orf33; FAM55D"
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q6UWF7.1)"
     mat_peptide     287..1837
                     /gene="NXPE4"
                     /gene_synonym="C11orf33; FAM55D"
                     /product="NXPE family member 4. /id=PRO_0000019553"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UWF7.1)"
     misc_feature    290..292
                     /gene="NXPE4"
                     /gene_synonym="C11orf33; FAM55D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6UWF7.1); glycosylation site"
     misc_feature    317..319
                     /gene="NXPE4"
                     /gene_synonym="C11orf33; FAM55D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6UWF7.1); glycosylation site"
     misc_feature    344..346
                     /gene="NXPE4"
                     /gene_synonym="C11orf33; FAM55D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6UWF7.1); glycosylation site"
     misc_feature    347..349
                     /gene="NXPE4"
                     /gene_synonym="C11orf33; FAM55D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6UWF7.1); glycosylation site"
     misc_feature    479..481
                     /gene="NXPE4"
                     /gene_synonym="C11orf33; FAM55D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6UWF7.1); glycosylation site"
     misc_feature    683..685
                     /gene="NXPE4"
                     /gene_synonym="C11orf33; FAM55D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6UWF7.1); glycosylation site"
     misc_feature    833..835
                     /gene="NXPE4"
                     /gene_synonym="C11orf33; FAM55D"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (Q6UWF7.1); glycosylation site"
ORIGIN
        1 acttctgtct tagctgaaac aagcagaagg ttgtgaatcc atgctaaagg taaacaaact
       61 gcaacttata tctgcaattt attttggtat agacaagagg tatgccagta gcacactggt
      121 ggcttcagaa gaaattctca acacctagct cgccagagag tctatgtatg ggattgaaca
      181 atctgtaaac taaaggatcc taatcatgaa aataagtatg ataaattata agtcactatt
      241 ggcactgttg tttatattag cctcctggat catttttaca gttttccaga actccacaaa
      301 ggtttggtct gctctaaact tatccatctc cctccattac tggaacaact ccacaaagtc
      361 cttattccct aaaacaccac tgatatcatt aaagccacta acagagactg aactcagaat
      421 aaaggaaatc atagagaaac tagatcagca gatcccaccc agacctttca cccacgtgaa
      481 caccaccacc agcgccacac atagcacagc caccatcctc aaccctcgag atacgtactg
      541 caggggagac cagctgcaca tcctgctgga ggtgagggac cacttgggac gcaggaagca
      601 atatggcggg gatttcctga gggccaggat gtcttcccca gcgctgatgg caggtgcttc
      661 aggaaaggtg actgacttca acaacggcac ctacctggtc agcttcactc tgttctggga
      721 gggccaggtc tctctgtctc tgctgctcat ccaccccagt gaaggggtgt cagctctctg
      781 gagtgcaagg aaccaaggct atgacagggt gatcttcact ggccagtttg tcaatggcac
      841 ttcccaagtc cactctgaat gtggcctgat cctaaacaca aatgctgaat tgtgccagta
      901 cctggacaac agagaccaag aaggcttcta ctgtgtgagg cctcaacaca tgccctgtgc
      961 tgcactcact cacatgtatt ctaagaacaa gaaagtttct tatcttagca aacaagaaaa
     1021 gagcctcttt gaaaggtcaa atgtgggtgt agagattatg gaaaaattca atacaattag
     1081 tgtctccaaa tgcaacaaag aaacagttgc aatgaaagag aaatgcaagt ttggaatgac
     1141 atccacaatc cccagtgggc atgtctggag aaacacatgg aatcctgtct cctgtagttt
     1201 ggctacagtc aaaatgaagg aatgcctgag aggaaaactc atatacctaa tgggagattc
     1261 cacgatccgc cagtggatgg aatacttcaa agccagtatc aacacactga agtcagtgga
     1321 tctgcatgaa tctggaaaat tgcaacacca gcttgctgtg gatttggata ggaacatcaa
     1381 catccagtgg caaaaatatt gttatccctt gataggatca atgacctatt cagtcaaaga
     1441 gatggagtac ctcacccggg ccattgacag aactggagga gaaaaaaata ctgtcattgt
     1501 tatttccctg ggccagcatt tcagaccctt tcccattgat gtttttatcc gaagggccct
     1561 caatgtccac aaagccattc agcatcttct tctgagaagc ccagacacta tggttatcat
     1621 caaaacagaa aacatcaggg agatgtacaa tgatgcagaa agatttagtg actttcatgg
     1681 ttacattcaa tatctcatca taaaggacat tttccaggat ctcagtgtga gtatcattga
     1741 tgcctgggat ataacaattg catatggcac aaataatgta cacccacctc aacatgtagt
     1801 cggaaatcag attaatatat tattaaacta tatttgttaa ataacacaaa agtctgaaat
     1861 tcattcactt aagtaaaaaa atttattgac tgtctactag caggccagat gctgtgtttg
     1921 gctctgaatt cccaactagc aagagcagag aatctacatt atggctgatc cataagccac
     1981 caattcagct aaatgagatg tttctaatct gggcttccac ttaaaaataa aactaaaaat
     2041 actcatgaaa agagcctacc cttcttgatc agagccatac ccctcttcac caatgggaag
     2101 tcaagacacc tatgggtaaa agttctctct gatgcatgaa aactcagagt gataaagtaa
     2161 ttttaaaata aaaatttgga gaaagca
//
LOCUS       NM_001077653            1824 bp    mRNA    linear   PRI 10-MAR-2023
DEFINITION  Homo sapiens T-box transcription factor 20 (TBX20), transcript
            variant 1, mRNA.
ACCESSION   NM_001077653
VERSION     NM_001077653.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1824)
  AUTHORS   Garcia-Flores E, Calderon-Colmenero J, Borgonio-Cuadra VM, Sandoval
            JP, Garcia-Montes JA, Cazarin-Santos BG, Miranda-Duarte A,
            Gamboa-Dominguez A, Rodriguez-Perez JM and Perez-Hernandez N.
  TITLE     Epigenetic Evaluation of the TBX20 Gene and Environmental Risk
            Factors in Mexican Paediatric Patients with Congenital Septal
            Defects
  JOURNAL   Cells 12 (4), 586 (2023)
   PUBMED   36831251
  REMARK    GeneRIF: Epigenetic Evaluation of the TBX20 Gene and Environmental
            Risk Factors in Mexican Paediatric Patients with Congenital Septal
            Defects. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1824)
  AUTHORS   Tang Y, Aryal S, Geng X, Zhou X, Fast VG, Zhang J, Lu R and Zhou Y.
  TITLE     TBX20 Improves Contractility and Mitochondrial Function During
            Direct Human Cardiac Reprogramming
  JOURNAL   Circulation 146 (20), 1518-1536 (2022)
   PUBMED   36102189
  REMARK    GeneRIF: TBX20 Improves Contractility and Mitochondrial Function
            During Direct Human Cardiac Reprogramming.
REFERENCE   3  (bases 1 to 1824)
  AUTHORS   Luo J, Chen JW, Zhou J, Han K, Li S, Duan JL, Cao CH, Lin JL, Xie D
            and Wang FW.
  TITLE     TBX20 inhibits colorectal cancer tumorigenesis by impairing
            NHEJ-mediated DNA repair
  JOURNAL   Cancer Sci 113 (6), 2008-2021 (2022)
   PUBMED   35348274
  REMARK    GeneRIF: TBX20 inhibits colorectal cancer tumorigenesis by impairing
            NHEJ-mediated DNA repair.
REFERENCE   4  (bases 1 to 1824)
  AUTHORS   Skoric-Milosavljevic D, Tadros R, Bosada FM, Tessadori F, van Weerd
            JH, Woudstra OI, Tjong FVY, Lahrouchi N, Bajolle F, Cordell HJ,
            Agopian AJ, Blue GM, Barge-Schaapveld DQCM, Gewillig M, Preuss C,
            Lodder EM, Barnett P, Ilgun A, Beekman L, van Duijvenboden K,
            Bokenkamp R, Muller-Nurasyid M, Vliegen HW, Konings TC, van Melle
            JP, van Dijk APJ, van Kimmenade RRJ, Roos-Hesselink JW, Sieswerda
            GT, Meijboom F, Abdul-Khaliq H, Berger F, Dittrich S, Hitz MP,
            Moosmann J, Riede FT, Schubert S, Galan P, Lathrop M, Munter HM,
            Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Veldink JH, van den
            Berg LH, Evans S, Nobrega MA, Aneas I, Radivojkov-Blagojevic M,
            Meitinger T, Oechslin E, Mondal T, Bergin L, Smythe JF,
            Altamirano-Diaz L, Lougheed J, Bouma BJ, Chaix MA, Kline J, Bassett
            AS, Andelfinger G, van der Palen RLF, Bouvagnet P, Clur SB, Breckpot
            J, Kerstjens-Frederikse WS, Winlaw DS, Bauer UMM, Mital S, Goldmuntz
            E, Keavney B, Bonnet D, Mulder BJ, Tanck MWT, Bakkers J,
            Christoffels VM, Boogerd CJ, Postma AV and Bezzina CR.
  CONSRTM   KORA-Study Group
  TITLE     Common Genetic Variants Contribute to Risk of Transposition of the
            Great Arteries
  JOURNAL   Circ Res 130 (2), 166-180 (2022)
   PUBMED   34886679
  REMARK    GeneRIF: Common Genetic Variants Contribute to Risk of Transposition
            of the Great Arteries.
REFERENCE   5  (bases 1 to 1824)
  AUTHORS   Yamamoto H, Inagaki H, Hayano S, Kurahashi H and Kato T.
  TITLE     Familial cardiac septal defect due to a novel nine-base deletion in
            TBX20
  JOURNAL   Pediatr Int 64 (1), e14995 (2022)
   PUBMED   35298876
  REMARK    GeneRIF: Familial cardiac septal defect due to a novel nine-base
            deletion in TBX20.
REFERENCE   6  (bases 1 to 1824)
  AUTHORS   Liu C, Shen A, Li X, Jiao W, Zhang X and Li Z.
  TITLE     T-box transcription factor TBX20 mutations in Chinese patients with
            congenital heart disease
  JOURNAL   Eur J Med Genet 51 (6), 580-587 (2008)
   PUBMED   18834961
  REMARK    GeneRIF: findings provide the first insight into TBX20 mutations for
            tetrology of fallot and anomalous pulmonary venous connection
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1824)
  AUTHORS   Hammer S, Toenjes M, Lange M, Fischer JJ, Dunkel I, Mebus S, Grimm
            CH, Hetzer R, Berger F and Sperling S.
  TITLE     Characterization of TBX20 in human hearts and its regulation by
            TFAP2
  JOURNAL   J Cell Biochem 104 (3), 1022-1033 (2008)
   PUBMED   18275040
  REMARK    GeneRIF: analysis of TBX20 in human hearts and its regulation by
            TFAP2
REFERENCE   8  (bases 1 to 1824)
  AUTHORS   Kirk EP, Sunde M, Costa MW, Rankin SA, Wolstein O, Castro ML, Butler
            TL, Hyun C, Guo G, Otway R, Mackay JP, Waddell LB, Cole AD, Hayward
            C, Keogh A, Macdonald P, Griffiths L, Fatkin D, Sholler GF, Zorn AM,
            Feneley MP, Winlaw DS and Harvey RP.
  TITLE     Mutations in cardiac T-box factor gene TBX20 are associated with
            diverse cardiac pathologies, including defects of septation and
            valvulogenesis and cardiomyopathy
  JOURNAL   Am J Hum Genet 81 (2), 280-291 (2007)
   PUBMED   17668378
  REMARK    GeneRIF: Our findings are the first to link TBX20 mutations to human
            pathology
REFERENCE   9  (bases 1 to 1824)
  AUTHORS   Stennard FA, Costa MW, Elliott DA, Rankin S, Haast SJ, Lai D,
            McDonald LP, Niederreither K, Dolle P, Bruneau BG, Zorn AM and
            Harvey RP.
  TITLE     Cardiac T-box factor Tbx20 directly interacts with Nkx2-5, GATA4,
            and GATA5 in regulation of gene expression in the developing heart
  JOURNAL   Dev Biol 262 (2), 206-224 (2003)
   PUBMED   14550786
REFERENCE   10  (bases 1 to 1824)
  AUTHORS   Meins M, Henderson DJ, Bhattacharya SS and Sowden JC.
  TITLE     Characterization of the human TBX20 gene, a new member of the T-Box
            gene family closely related to the Drosophila H15 gene
  JOURNAL   Genomics 67 (3), 317-332 (2000)
   PUBMED   10936053
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: DQ986374.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMN03267760,
            SAMN03568912 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000408931.4/ ENSP00000386170.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009531.11, DQ986374.1 and
            AC005826.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 15, 2009 this sequence version replaced NM_001077653.1.
            Summary: This gene encodes a T-box family member. The T-box family
            members share a common DNA binding domain, termed the T-box, and
            they are transcription factors involved in the regulation of
            developmental processes. This gene is essential for heart
            development. Mutations in this gene are associated with diverse
            cardiac pathologies, including defects in septation, valvulogenesis
            and cardiomyopathy. Alternatively spliced transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Oct 2009].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..1824
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.2"
     gene            1..1824
                     /gene="TBX20"
                     /gene_synonym="ASD4"
                     /note="T-box transcription factor 20"
                     /db_xref="GeneID:57057"
                     /db_xref="HGNC:HGNC:11598"
                     /db_xref="MIM:606061"
     misc_feature    307..309
                     /gene="TBX20"
                     /gene_synonym="ASD4"
                     /note="upstream in-frame stop codon"
     CDS             481..1824
                     /gene="TBX20"
                     /gene_synonym="ASD4"
                     /note="isoform 1 is encoded by transcript variant 1; T-box
                     protein 20; T-box transcription factor TBX20; T-box 20"
                     /codon_start=1
                     /product="T-box transcription factor TBX20 isoform 1"
                     /protein_id="NP_001071121.1"
                     /db_xref="CCDS:CCDS43568.1"
                     /db_xref="GeneID:57057"
                     /db_xref="HGNC:HGNC:11598"
                     /db_xref="MIM:606061"
                     /translation="MEFTASPKPQLSSRANAFSIAALMSSGGSKEKEATENTIKPLEQF
                     VEKSSCAQPLGELTSLDAHGEFGGGSGSSPSSSSLCTEPLIPTTPIIPSEEMAKIACSL
                     ETKELWDKFHELGTEMIITKSGRRMFPTIRVSFSGVDPEAKYIVLMDIVPVDNKRYRYA
                     YHRSSWLVAGKADPPLPARLYVHPDSPFTGEQLLKQMVSFEKVKLTNNELDQHGHIILN
                     SMHKYQPRVHIIKKKDHTASLLNLKSEEFRTFIFPETVFTAVTAYQNQLITKLKIDSNP
                     FAKGFRDSSRLTDIERESVESLIQKHSYARSPIRTYGGEEDVLGDESQTTPNRGSAFTT
                     SDNLSLSSWVSSSSSFPGFQHPQSLTALGTSTASIATPIPHPIQGSLPPYSRLGMPLTP
                     SAIASSMQGSGPTFPSFHMPRYHHYFQQGPYAAIQGLRHSSAVMTPFV"
     misc_feature    664..723
                     /gene="TBX20"
                     /gene_synonym="ASD4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMR3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1426..1500
                     /gene="TBX20"
                     /gene_synonym="ASD4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UMR3.4);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 gctcactgtc cgtagttccg cgccgcgctc cccacgccag cgtcctagca gccgcgctcg
       61 gctggtggcc acctcagcct gggacatccc ggctgtcccc agccccagag ggaggaagga
      121 cgcggagggg atgctccagg accccaggac tttgtgcagt tgatgctcgt ttccgccttc
      181 gggctgtgca gactgtcgtc ctgccgagcg ccccggggcg tgcgcacccg ccgtagtgct
      241 cggtgggccc tctcctctcc ggctgccttc gaagtctctg cggctctggg gctttgcggt
      301 ggggaataga ggccagtgtg cagctctgga gtcgttggag ctgacacttc tggagtccct
      361 ggccccgctg tgactgctct cggaaacttt gagctgtgtt tcgggtcttt gtctcccttg
      421 gggaatctgg acggcagttc ggacgacccc gtccctggcc aggaccgcgt gctggggacc
      481 atggagttca cggcgtcccc caagccccaa ctctcctctc gggccaacgc cttctccatt
      541 gccgcgctca tgtcgagcgg cggctctaag gagaaggagg cgacggagaa cacaatcaaa
      601 cccctggagc aatttgtgga gaagtcgtcc tgtgcccagc ccctgggtga gctgaccagc
      661 ctggatgctc atggggagtt tggtggaggc agtggcagca gcccgtcctc ctcctctctg
      721 tgcactgagc cactgatccc caccaccccc atcatcccca gtgaggaaat ggccaaaatt
      781 gcctgcagcc tggagaccaa ggagctttgg gacaaattcc atgagctggg caccgagatg
      841 atcatcacca agtcgggcag gaggatgttt ccaaccatcc gggtgtcctt ttcgggggtg
      901 gatcctgagg ccaagtacat agtcctgatg gacatcgtcc ctgtggacaa caagaggtac
      961 cgctacgcct accaccggtc ctcctggctg gtggctggca aggccgaccc gccgttgcca
     1021 gccaggctct atgtgcatcc agattctcct tttaccggtg agcaactact caaacagatg
     1081 gtgtcttttg aaaaggtgaa actcaccaac aatgaactgg atcaacatgg ccatataatt
     1141 ttgaactcaa tgcataagta ccagccaagg gtgcacatca ttaagaagaa agaccacaca
     1201 gcctcattgc tcaacctgaa gtctgaagaa tttagaactt tcatctttcc agaaacagtt
     1261 tttacggcag tcactgccta ccagaatcaa ctgataacga agctgaaaat agatagcaat
     1321 ccttttgcca aaggattccg ggattcctcc aggctcactg acattgagag ggaaagtgtg
     1381 gagagcctga ttcaaaagca ttcctatgca cgctcaccca tccgtaccta cggaggagaa
     1441 gaagatgtct tgggggatga gagtcagaca accccaaatc gagggtcagc ctttacaaca
     1501 tctgataatt tgtctctcag ctcctgggta tcatcttctt ccagttttcc tgggtttcag
     1561 cacccacagt ccctgactgc tcttggcacc agcacagcat ccatagcaac acccattcct
     1621 caccccatcc agggttctct gccaccatat agccgactgg gaatgcctct gacaccatcg
     1681 gccattgcca gctccatgca agggagtggc cccacattcc cttcattcca catgccgcga
     1741 taccatcact attttcagca ggggccctat gctgccattc aaggactacg ccattcctct
     1801 gctgtgatga cgccatttgt atga
//
LOCUS       NM_001077657            1790 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens single-pass membrane protein with coiled-coil domains 1
            (SMCO1), transcript variant 1, mRNA.
ACCESSION   NM_001077657
VERSION     NM_001077657.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1790)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1790)
  AUTHORS   Zhang C, Chang C, Li D, Zhang F and Xu C.
  TITLE     The novel protein C3orf43 accelerates hepatocyte proliferation
  JOURNAL   Cell Mol Biol Lett 22, 21 (2017)
   PUBMED   28932249
  REMARK    Publication Status: Online-Only
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.172946.1, AL833140.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2151741,
            SAMEA2154361 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000397537.3/ ENSP00000380671.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK123917.1, BC118636.1 and AL833140.1.
            On Nov 22, 2018 this sequence version replaced NM_001077657.2.
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1790
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q29"
     gene            1..1790
                     /gene="SMCO1"
                     /gene_synonym="C3orf43"
                     /note="single-pass membrane protein with coiled-coil
                     domains 1"
                     /db_xref="GeneID:255798"
                     /db_xref="HGNC:HGNC:27407"
     misc_feature    45..47
                     /gene="SMCO1"
                     /gene_synonym="C3orf43"
                     /note="upstream in-frame stop codon"
     CDS             138..782
                     /gene="SMCO1"
                     /gene_synonym="C3orf43"
                     /note="isoform 1 is encoded by transcript variant 1;
                     single-pass membrane and coiled-coil domain-containing
                     protein 1"
                     /codon_start=1
                     /product="single-pass membrane and coiled-coil
                     domain-containing protein 1 isoform 1"
                     /protein_id="NP_001071125.1"
                     /db_xref="CCDS:CCDS43192.1"
                     /db_xref="GeneID:255798"
                     /db_xref="HGNC:HGNC:27407"
                     /translation="MNNETTTLISLKEAMKRVDHKLQALETQFKELDFTKDNLMQKFEH
                     HSKALASQAAQDEMWTAVRALQLTSMELNILYSYVIEVLICLHTRVLEKLPDLVRGLPT
                     LASVLRRKVKNKRVRVVWESILEECGLQEGDITALCTFFIARGNKAEHYTAKVRQMYIR
                     DVTFLITNMVKNQALQDSLLRAVQVIEKGKAVRTPEKQKSSLEELIPSVKN"
     misc_feature    330..380
                     /gene="SMCO1"
                     /gene_synonym="C3orf43"
                     /note="propagated from UniProtKB/Swiss-Prot (Q147U7.2);
                     transmembrane region"
     regulatory      1766..1771
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMCO1"
                     /gene_synonym="C3orf43"
                     /note="hexamer: AATAAA"
     polyA_site      1790
                     /gene="SMCO1"
                     /gene_synonym="C3orf43"
                     /note="major polyA site"
ORIGIN
        1 aggcagaatg tagactgagc gctcctgcta ctgctgcctg ttgctgagag gaagaccgca
       61 gaaaattctg gattcaaaca tttattgctt tttttgtttt gctttgtttt tgttttcttt
      121 ccttttgcct tcagaagatg aacaatgaaa ccacaaccct gatatccttg aaggaggcaa
      181 tgaaaagagt agaccacaaa ctccaagcgt tagaaacaca gttcaaagaa ctagacttca
      241 ccaaggataa cctgatgcag aaattcgaac atcatagtaa ggctttggca agccaagcag
      301 cccaagatga gatgtggaca gcagttcggg cactccagct cacttcaatg gaattgaata
      361 ttttatacag ctacgtcatt gaagtactta tctgcttgca tactcgtgtg cttgagaagc
      421 tgccagacct ggtgagaggt cttccaacct tagcctctgt actcagaaga aaagttaaga
      481 acaagcgcgt tagagttgta tgggagtcca tactggagga gtgtgggctg caagaaggag
      541 acatcacagc actttgtacc ttctttattg cacgtggtaa caaggcagaa cactatactg
      601 ctaaagtgag gcagatgtac atcagggatg tcacgttcct aattactaac atggtaaaga
      661 accaggctct gcaggacagt ttgctgaggg ctgtgcaggt aattgagaag gggaaagcag
      721 ttaggacccc tgaaaagcaa aagtcatccc tcgaagagtt gataccatct gtcaaaaact
      781 aacctgttac cctatgaccc agtgattcca cctacagtaa tttatcttgg aaacagcaaa
      841 aagtatgcac aatttattat agtcttattt ttatagcaaa gagtgagagg atgttaaata
      901 aattatgaca aattgataca atagatactt tctttgcagc catataaaag aatgaagaag
      961 ctctttgtgt aatgatatga agtgatcacc aaatgtattg ttgttttcaa atgtttattt
     1021 ccaatataca ttgctaagtg gaaaaaaggt gacaaatata tatatataaa tatatatata
     1081 acacatatta gtttacatat ccataaactt cttctgcaga gatacacaag acagtgataa
     1141 cattagttgt caggaaagaa agctaagagg ctaggggtca aagacaagag gaagtctttt
     1201 cactgttaat ccatttttta cattttcaat tttgaaccat gtgaatgtat tacctattta
     1261 aaaaataaac aaggccggac atggtggctc atgcctataa tccaagcacc ttaggaggcc
     1321 aaggtaggag gatcacttga gctcaggggt ttcagaccag cctgggcaac acagtgatag
     1381 caataggagg caggtaaatt cctaggcaga cagggagggg tccctggtga aactcaacct
     1441 tcaagccaag gacagtctaa agcctgaaaa ccaagctatg agttctggat aaatccatga
     1501 gccagactga gagctcccat tctcgtctgg caccctctct cctgattggt ccttaccctt
     1561 cacctatttt atacatacct acccttccgc gattggtcct ctacactatc gtgcctattt
     1621 ctgaatggtg ctttgtcaag catagccaca gaccaatcag catgcacttg cccatttcta
     1681 gcccacaaaa acccatagac tcaggctcgt ggccagcaac ccaccttcgg gtcccctctc
     1741 actgccaaga gccgttctgt cactcaataa attctacttt gccttactca
//
LOCUS       NM_001077663            3571 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens upregulator of cell proliferation (URGCP), transcript
            variant 3, mRNA.
ACCESSION   NM_001077663
VERSION     NM_001077663.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3571)
  AUTHORS   Tokay E.
  TITLE     [Epidermal Growth Factor Mediates Up-regulation of URGCP Oncogene in
            Human Hepatoma Cancer Cells]
  JOURNAL   Mol Biol (Mosk) 55 (4), 676-682 (2021)
   PUBMED   34432785
  REMARK    GeneRIF: [Epidermal Growth Factor Mediates Up-regulation of URGCP
            Oncogene in Human Hepatoma Cancer Cells].
REFERENCE   2  (bases 1 to 3571)
  AUTHORS   Tokay E, Sagkan RI and Kockar F.
  TITLE     TNF-alpha Induces URG-4/URGCP Gene Expression in Hepatoma Cells
            through Starvation Dependent Manner
  JOURNAL   Biochem Genet 59 (1), 300-314 (2021)
   PUBMED   33034821
  REMARK    GeneRIF: TNF-alpha Induces URG-4/URGCP Gene Expression in Hepatoma
            Cells through Starvation Dependent Manner.
REFERENCE   3  (bases 1 to 3571)
  AUTHORS   Yu D, Xu X, Li S and Zhang K.
  TITLE     LINC00514 drives osteosarcoma progression through sponging
            microRNA-708 and consequently increases URGCP expression
  JOURNAL   Aging (Albany NY) 12 (8), 6793-6807 (2020)
   PUBMED   32325430
  REMARK    GeneRIF: LINC00514 drives osteosarcoma progression through sponging
            microRNA-708 and consequently increases URGCP expression.
REFERENCE   4  (bases 1 to 3571)
  AUTHORS   Aslan F and Avcikurt AS.
  TITLE     URG4 expression in invasive breast carcinoma and its relation to
            clinicopathological characteristics
  JOURNAL   Breast Cancer 26 (4), 485-491 (2019)
   PUBMED   30680688
  REMARK    GeneRIF: URG4 overexpression in breast ductal carcinomas is
            significantly associated with good prognostic parameters.
REFERENCE   5  (bases 1 to 3571)
  AUTHORS   Dodurga Y, Secme M and Lale Satiroglu-Tufan N.
  TITLE     A novel oncogene URG4/URGCP and its role in cancer
  JOURNAL   Gene 668, 12-17 (2018)
   PUBMED   29775749
  REMARK    GeneRIF: Relationship between URG4/URGCP expression and
            clinicopathologic characteristics were evaluated and significant
            results were in various cancer types (review). Review article
REFERENCE   6  (bases 1 to 3571)
  AUTHORS   Huang J, Zhu B, Lu L, Lian Z, Wang Y, Yang X, Satiroglu-Tufan NL,
            Liu J and Luo Z.
  TITLE     The expression of novel gene URG4 in osteosarcoma: correlation with
            patients' prognosis
  JOURNAL   Pathology 41 (2), 149-154 (2009)
   PUBMED   18972316
  REMARK    GeneRIF: URG4 may play important roles in the development of
            osteosarcoma, and might be a useful molecular marker for predicting
            the prognosis of osteosarcoma.
REFERENCE   7  (bases 1 to 3571)
  AUTHORS   Song J, Xie H, Lian Z, Yang G, Du R, Du Y, Zou X, Jin H, Gao J, Liu
            J and Fan D.
  TITLE     Enhanced cell survival of gastric cancer cells by a novel gene URG4
  JOURNAL   Neoplasia 8 (12), 995-1002 (2006)
   PUBMED   17217616
  REMARK    GeneRIF: URG4 plays an important role in the development of human
            gastric cancer by regulating the expression of cyclin D1.
REFERENCE   8  (bases 1 to 3571)
  AUTHORS   Tsang HT, Connell JW, Brown SE, Thompson A, Reid E and Sanderson CM.
  TITLE     A systematic analysis of human CHMP protein interactions: additional
            MIT domain-containing proteins bind to multiple components of the
            human ESCRT III complex
  JOURNAL   Genomics 88 (3), 333-346 (2006)
   PUBMED   16730941
REFERENCE   9  (bases 1 to 3571)
  AUTHORS   Fu GK, Wang JT, Yang J, Au-Young J and Stuve LL.
  TITLE     Circular rapid amplification of cDNA ends for high-throughput
            extension cloning of partial genes
  JOURNAL   Genomics 84 (1), 205-210 (2004)
   PUBMED   15203218
REFERENCE   10  (bases 1 to 3571)
  AUTHORS   Tufan NL, Lian Z, Liu J, Pan J, Arbuthnot P, Kew M, Clayton MM, Zhu
            M and Feitelson MA.
  TITLE     Hepatitis Bx antigen stimulates expression of a novel cellular gene,
            URG4, that promotes hepatocellular growth and survival
  JOURNAL   Neoplasia 4 (4), 355-368 (2002)
   PUBMED   12082552
  REMARK    GeneRIF: URG4 may be a natural effector of HBxAg that contributes
            importantly to multistep hepatocarcinogenesis.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BX640797.1, BX648505.1 [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match :: ENST00000453200.6/ ENSP00000396918.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX648505.1, AB040940.1 and AK000661.1.
            On Feb 27, 2020 this sequence version replaced NM_001077663.2.
            Summary: URG4 is upregulated in the presence of hepatitis B virus
            (HBV)-encoded X antigen (HBxAg) and may contribute to the
            development of hepatocellular carcinoma by promoting hepatocellular
            growth and survival (Tufan et al., 2002 [PubMed
            12082552]).[supplied by OMIM, Mar 2008].
            Transcript Variant: This variant (3) encodes the longest protein
            (isoform 3).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3571
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p13"
     gene            1..3571
                     /gene="URGCP"
                     /gene_synonym="URG4"
                     /note="upregulator of cell proliferation"
                     /db_xref="GeneID:55665"
                     /db_xref="HGNC:HGNC:30890"
                     /db_xref="MIM:610337"
     CDS             22..2817
                     /gene="URGCP"
                     /gene_synonym="URG4"
                     /note="isoform 3 is encoded by transcript variant 3;
                     up-regulated gene 4; HBxAg up-regulated gene 4 protein; HBV
                     X protein up-regulated gene 4 protein; up-regulator of cell
                     proliferation"
                     /codon_start=1
                     /product="up-regulator of cell proliferation isoform 3"
                     /protein_id="NP_001071131.1"
                     /db_xref="CCDS:CCDS47578.1"
                     /db_xref="GeneID:55665"
                     /db_xref="HGNC:HGNC:30890"
                     /db_xref="MIM:610337"
                     /translation="MASPGIEVELLGKGHSDLGEVAPEIKASERRTAVAIADLEWREME
                     GDDCEFRYGDGTNEAQDNDFPTVERSRLQEMLSLLGLETYQVQKLSLQDSLQISFDSMK
                     NWAPQVPKDLPWNFLRKLQALNADARNTTMVLDVLPDARPVEKESQMEEEIIYWDPADD
                     LAADIYSFSELPTPDTPVNPLDLLCALLLSSDSFLQQEIALKMALCQFALPLVLPDSEN
                     HYHTFLLWAMRGIVRTWWSQPPRGMGSFREDSVVLSRAPAFAFVRMDVSSNSKSQLLNA
                     VLSPGHRQWDCFWHRDLNLGTNAREISDGLVEISWFFPSGREDLDIFPEPVAFLNLRGD
                     IGSHWLQFKLLTEISSAVFILTDNISKKEYKLLYSMKESTTKYYFILSPYRGKRNTNLR
                     FLNKLIPVLKIDHSHVLVKVSSTDSDSFVKRIRAIVGNVLRAPCRRVSVEDMAHAARKL
                     GLKVDEDCEECQKAKDRMERITRKIKDSDAYRRDELRLQGDPWRKAAQVEKEFCQLQWA
                     VDPPEKHRAELRRRLLELRMQQNGHDPSSGVQEFISGISSPSLSEKQYFLRWMEWGLAR
                     VAQPRLRQPPETLLTLRPKHGGTTDVGEPLWPEPLGVEHFLREMGQFYEAESCLVEAGR
                     LPAGQRRFAHFPGLASELLLTGLPLELIDGSTLSMPVRWVTGLLKELHVRLERRSRLVV
                     LSTVGVPGTGKSTLLNTMFGLRFATGKSCGPRGAFMQLITVAEGFSQDLGCDHILVIDS
                     GGLIGGALTSAGDRFELEASLATLLMGLSNVTVISLAETKDIPAAILHAFLRLEKTGHM
                     PNYQFVYQNLHDVSVPGPRPRDKRQLLDPPGDLSRAAAQMEKQGDGFRALAGLAFCDPE
                     KQHIWHIPGLWHGAPPMAAVSLAYSEAIFELKRCLLENIRNGLSNQNKNIQQLIELVRR
                     L"
     misc_feature    28..30
                     /gene="URGCP"
                     /gene_synonym="URG4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8TCY9.2); phosphorylation site"
     regulatory      3551..3556
                     /regulatory_class="polyA_signal_sequence"
                     /gene="URGCP"
                     /gene_synonym="URG4"
                     /note="hexamer: AATAAA"
     polyA_site      3571
                     /gene="URGCP"
                     /gene_synonym="URG4"
                     /note="major polyA site"
ORIGIN
        1 agcggagacc tcgctgcgct catggcgtcg cccgggatag aagtggaatt actgggcaaa
       61 gggcattcag atttgggaga agtagcccca gaaataaaag catcagagag acgaacagct
      121 gtggccattg cagatttgga atggagagaa atggaaggag atgattgcga gttccgttat
      181 ggagatggta caaatgaggc tcaggacaat gattttccaa cagtggagag aagcaggctt
      241 caagaaatgc tgtcactttt gggcctagag acgtaccagg tccagaaact cagcctccag
      301 gactctctgc agatcagttt tgacagtatg aagaactggg cccctcaggt tcccaaagac
      361 ttgccctgga atttcctcag gaagttgcag gccctcaatg ctgatgccag gaataccact
      421 atggtgctgg acgtgctccc agacgccagg cctgtggaga aggagagcca gatggaagag
      481 gagatcatct actgggaccc agctgatgac cttgctgccg acatttattc cttttctgag
      541 ctgcccaccc ctgatacgcc agtgaacccc ttagaccttc tctgtgccct gctgctctcc
      601 tcagacagtt tcctgcaaca agaaatagcg ttgaaaatgg ccctctgcca gtttgcactc
      661 ccactcgtgt tgcctgactc ggagaaccac taccatacat ttctgctgtg ggccatgcgg
      721 ggcattgtga ggacatggtg gtcccagccc ccaaggggca tggggagctt ccgggaagac
      781 agcgtggtct tgtccagggc gcccgccttc gccttcgtgc gcatggacgt cagtagcaac
      841 tccaagtccc agcttctcaa cgccgtcctc agcccgggcc acaggcagtg ggactgcttc
      901 tggcatcggg acctcaactt gggcaccaat gcccgggaga tttcggatgg gttggtagaa
      961 atttcctggt tttttcccag cggaagggag gacttggaca ttttcccaga acctgtggcc
     1021 tttctgaacc tgagaggtga catcgggtct cactggctgc agtttaagct cttgacagaa
     1081 atctcctccg ctgtgtttat attgactgac aatatcagta agaaggaata caaattgctg
     1141 tactccatga aggagtcaac cacaaaatac tacttcatcc tgagtcccta ccgtgggaag
     1201 cgcaacacaa acctgagatt tctgaataag ttaattcctg tgctgaaaat agaccactca
     1261 catgtcctgg taaaggtcag cagcactgac agcgacagct tcgtgaagag gatccgggcc
     1321 atcgttggga atgtgctgcg ggcaccctgc aggcgggtat ctgtggagga catggcgcac
     1381 gcagcccgca aactgggcct aaaggtcgac gaggactgtg aggagtgtca gaaagcgaaa
     1441 gaccggatgg agaggattac caggaaaatc aaagactcgg atgcctacag aagggacgag
     1501 ctgaggctgc agggggaccc ctggagaaag gcagcccaag tggagaagga gttctgccag
     1561 ctccagtggg ccgtggaccc ccctgagaag cacagggctg agctgaggcg gcggctgcta
     1621 gaacttcgaa tgcagcagaa cggccatgat ccctcctcgg gggtgcagga gttcatctcg
     1681 gggatcagca gcccctcctt gagtgagaag cagtacttcc tgaggtggat ggagtggggc
     1741 ctggcacggg tggcccagcc gcgactgaga cagcctccgg agacgcttct caccctgaga
     1801 ccaaagcatg ggggcaccac agacgtgggg gagccgctct ggcctgagcc cctaggggtg
     1861 gaacacttct tgcgggagat gggacagttt tatgaggctg agagctgtct tgtggaggca
     1921 gggaggctgc cggcaggcca gaggcgtttt gcccacttcc caggcttggc ctcggagctg
     1981 ctgctgacag ggctgcctct ggagctaatc gatgggagca cgctgagcat gcccgtccgc
     2041 tgggtcacag ggctcctgaa ggagctgcac gtccgactgg agagacggtc aaggctggtg
     2101 gttctgtcaa ccgtcggggt gccaggcacg ggcaagtcca cactcctcaa caccatgttt
     2161 gggctgcggt ttgccacagg gaagagctgc ggtcctcgag gggccttcat gcagctcatc
     2221 acagtggctg agggcttcag ccaggacctg ggctgtgacc acatcctggt gatagactcc
     2281 gggggcttga taggtggggc cttgacgtca gctggggaca gatttgagct ggaggcttcc
     2341 ttggccactc tgctcatggg actgagcaat gtcaccgtga tcagtctagc tgaaaccaag
     2401 gacattccag cagctattct gcatgcattt ctgaggttag aaaaaacggg gcacatgccc
     2461 aactaccagt ttgtatacca gaaccttcat gatgtatctg ttcccggccc taggcccaga
     2521 gacaagagac agctcctgga tccacctggt gacctgagca gggctgcagc ccagatggag
     2581 aaacagggcg acggcttccg ggcactggca ggcctggcct tctgcgaccc tgagaagcag
     2641 cacatctggc acatcccagg cctgtggcac ggagcacctc ccatggccgc agtgagcttg
     2701 gcctacagtg aagccatatt tgaattgaag agatgcctac tcgaaaacat caggaacggc
     2761 ttgtcgaacc aaaacaaaaa catccagcag ctcattgagc tggtgagacg gctgtgagtg
     2821 tgcagagaaa cccagttcag gtgtaggagg ctgctgtggg cagccctgtc tgatggggca
     2881 cccgtgtggg gctgtgctct ggtgcctgag aatggctggt gcccaatcga catgagaaga
     2941 cgaggaaaag acagggtttg gagtctcctc aacagtgtta aaagaggaag tgacctcaca
     3001 gaccagctca gagatgttac caagaatatc acagccccca gggtagggag acaagcagca
     3061 gtttgttctg tctcagctcc tgtcaaggat cctgcggggt gggccctctg tatagctgct
     3121 ctctgtcact ggcccctgga gtgggagcag cgtccttagt cactgcaggc ccaggcgggc
     3181 aggtggtccc aggacagagg tggggaagtt gtcctgagga agcagaagta ggccttgctc
     3241 ccgcccaacc caagggcctc cagtggacca gcattcaaga tgtgagtgcc cgtggtgtgc
     3301 aaggcactcc catggcaccg tatttattga ctgatctgtg aaggcttccc tgacccctgc
     3361 ccaggaagag ttcactggtc gctctgttgt gccccacagc actttgttat acctctgcca
     3421 cacacttcac gcagcgcgtt gtaactcatg tgtttacatg tctgtccccc cagactgtga
     3481 gctccttgag ggcagggact gtacattctc cagctctgtg tccccagggc ctggcacatt
     3541 gtagacgctt aataaatgtc tgttaaatga a
//
LOCUS       NM_001077665            2684 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain
            6 (AGAP6), transcript variant 1, mRNA.
ACCESSION   NM_001077665
VERSION     NM_001077665.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2684)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC131545.1, SRR14038193.4067248.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000412531.7/ ENSP00000500374.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL442003.8.
            On Feb 5, 2021 this sequence version replaced NM_001077665.2.
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2684
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.23"
     gene            1..2684
                     /gene="AGAP6"
                     /gene_synonym="AGAP-6; CTGLF3"
                     /note="ArfGAP with GTPase domain, ankyrin repeat and PH
                     domain 6"
                     /db_xref="GeneID:414189"
                     /db_xref="HGNC:HGNC:23466"
     misc_feature    299..301
                     /gene="AGAP6"
                     /gene_synonym="AGAP-6; CTGLF3"
                     /note="upstream in-frame stop codon"
     CDS             311..2371
                     /gene="AGAP6"
                     /gene_synonym="AGAP-6; CTGLF3"
                     /note="centaurin-gamma-like family member 3"
                     /codon_start=1
                     /product="arf-GAP with GTPase, ANK repeat and PH
                     domain-containing protein 6"
                     /protein_id="NP_001071133.2"
                     /db_xref="CCDS:CCDS44397.1"
                     /db_xref="GeneID:414189"
                     /db_xref="HGNC:HGNC:23466"
                     /translation="MGNILTCRVHPSVSLEFDQQQGSVCPSESETYEAGARDRMAGAPM
                     AAAVQPAEVTVEVGEDLHMHHVRDREMPEALEFNLSANPESSTIFQRNSQTEALEFNPS
                     ANPEASTIFQRNSQTDVVEIRRSNCTNHVSAVRFSQQYSLCSTIFLDDSTAIQHYLTMT
                     IISVTLEIPHHITQRDADRTLSIPDEQLHSFAVSTVHIMKKRNGGGSLNNYSSSIPSTP
                     STSQEDPQFSVPPTANTPTPVCKRSMRWSNLFTSEKGSDPDKERKAPENHADTIGSGRA
                     IPIKQGMLLKRSGKWLKTWKKKYVTLCSNGMLTYYSSLGDYMKNIHKKEIDLQTSTIKV
                     PGKWPSLATSACTPISSSKSNGLSKDMDTGLGDSICFSPSISSTTSPKLNPPPSPHANK
                     KKHLKKKSTNNFMIVSATGQTWHFEATTYEERDAWVQAIQSQILASLQSCESSKSKSQL
                     TSQSEAMALQSIQNMRGNAHCVDCETQNPKWASLNLGVLMCIECSGIHRSLGPHLSRVR
                     SLELDDWPVELRKVMSSIVNDLANSIWEGSSQGQTKPSEKSTREEKERWIRSKYEEKLF
                     LAPLPCTELSLGQQLLRATADEDLQTAILLLAHGSCEEVNETCGEGDGCTALHLACRKG
                     NVVLAQLLIWYGVDVMARDAHGNTALTYARQASSQECINVLLQYGCPDECV"
     regulatory      2660..2665
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGAP6"
                     /gene_synonym="AGAP-6; CTGLF3"
                     /note="hexamer: AATAAA"
     polyA_site      2684
                     /gene="AGAP6"
                     /gene_synonym="AGAP-6; CTGLF3"
                     /note="major polyA site"
ORIGIN
        1 tgttctctct tcaggcagtt gttgtgtctc tcagcgcttg ttggtttcac aacctattaa
       61 ataagccggc tggtcttcac cctcccagac aagtcaactc aggggaggca gcagggtgcg
      121 ggccttggcc cgcagcccta gccggggccg gggccagggc tggtgcccgg ggcctcgctg
      181 tgaggtgggc aggcgaggag cgggaagacc atctctgcaa gtgcagcata gcctcggcct
      241 aggacagcgg gagtgcgtgg ccaaagctgt gagcagaggc acaggtggtg gcagacagta
      301 gaggcgcccc atggggaaca tactgacctg tcgtgtgcac cctagcgtca gcctcgagtt
      361 tgaccagcag caggggtcgg tgtgtccctc tgaatctgag acctatgagg caggagctag
      421 ggacaggatg gcaggagcgc ccatggctgc tgctgtacag cctgctgagg tgactgttga
      481 agttggtgag gacctccaca tgcaccacgt tcgtgaccgg gagatgcctg aagctttgga
      541 gtttaacctt tctgccaatc cagagtcaag cacaatattc cagaggaact ctcaaacaga
      601 agctttggag tttaaccctt ctgccaatcc agaggcaagc acaatattcc agaggaactc
      661 tcaaacagat gttgtagaaa taagaagaag caactgtaca aaccatgtat ctgctgtgcg
      721 tttcagtcaa caatacagct tgtgttcgac aatattcctt gatgacagca cagccatcca
      781 gcattatctt acaatgacaa taatatctgt gaccttggag atacctcatc atatcacaca
      841 aagagatgca gatagaactt tgagcatacc tgatgaacag ttacactcat ttgcggtttc
      901 caccgtgcac attatgaaga aaagaaatgg aggtgggagt ttaaataact attcctcctc
      961 cattccatcg actcccagca ccagccagga ggaccctcag ttcagtgttc ctcccactgc
     1021 caacacaccc acgcccgttt gcaagcggtc catgcgctgg tccaacctgt ttacatctga
     1081 gaaagggagt gacccagaca aagagaggaa agccccggag aatcatgctg acaccatcgg
     1141 gagcggtaga gccatcccca ttaaacaggg catgctctta aagcgaagtg ggaaatggct
     1201 gaagacatgg aaaaagaaat acgtcaccct gtgttccaat ggcatgctca cctattattc
     1261 aagcttaggt gattatatga agaatattca taaaaaagag attgaccttc agacatctac
     1321 catcaaagtc ccaggaaagt ggccatccct agccacatcg gcctgcacac ccatctccag
     1381 ctctaaaagc aatggcctat ccaaggacat ggacaccggg ctgggtgact ccatatgctt
     1441 cagccccagt atctccagca ccaccagccc caagctcaac ccgcccccct ctcctcatgc
     1501 taataaaaag aaacacctaa agaagaaaag caccaacaac tttatgattg tgtctgccac
     1561 tggccaaacg tggcactttg aagccacgac gtatgaggag cgggatgcct gggtccaagc
     1621 catccagagc cagatcctgg ccagcctgca gtcatgcgag agcagtaaaa gcaagtccca
     1681 gctgaccagc cagagcgagg ccatggccct gcagtcgatc caaaacatgc gtgggaacgc
     1741 ccactgtgtg gactgtgaga cccagaatcc taagtgggcc agtttgaact tgggagtcct
     1801 catgtgtatt gaatgctcag gtatccaccg cagtcttggc ccccaccttt cccgtgtgcg
     1861 atctctggag ctggatgact ggccagttga gctcaggaag gttatgtcat ctattgtcaa
     1921 tgacctagcc aacagcatct gggaagggag cagccagggg cagacaaaac cctcagaaaa
     1981 gtccacgagg gaagagaagg aacggtggat ccgttccaaa tatgaggaga agctctttct
     2041 ggccccacta ccctgcactg agctgtccct gggccagcag ctgctgcggg ccaccgctga
     2101 tgaggacctg cagacagcca tcctgctgct ggcacatggc tcctgtgagg aggtgaacga
     2161 gacctgtggg gagggagacg gctgcacggc gctccatctg gcctgccgca aggggaatgt
     2221 ggtcctggcg cagctcctga tctggtacgg ggtggacgtc atggcccgag atgcccacgg
     2281 gaacacagcg ctgacctacg cccggcaggc ctccagccag gagtgcatca acgtgcttct
     2341 gcagtacggc tgccccgacg agtgtgtgta gtatctgttt tatttgactg cagtctcctt
     2401 ggtgcaaaaa caaaatggga aaaataagga taactcagaa tttcaaaagg aaatcacaaa
     2461 ttcagctaat attagcattt tcagtacttt tcgtaaacta agtaaataca caaaatgttg
     2521 atttttctga ccataagacg tattttatgt ccttctgcca aggtggattt gttagtctca
     2581 ggccctcctg gccacattgc ccaagtcaca caggcttctg tattatgtat ttagataaaa
     2641 tgtgtgaaaa catatttgaa ataaagttca taaatatgca ttga
//
LOCUS       NM_001077693            1031 bp    mRNA    linear   PRI 25-DEC-2022
DEFINITION  Homo sapiens endothelial cell surface expressed chemotaxis and
            apoptosis regulator (ECSCR), transcript variant 1, mRNA.
ACCESSION   NM_001077693
VERSION     NM_001077693.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1031)
  AUTHORS   Pircher A, Johrer K, Kocher F, Steiner N, Graziadei I, Heidegger I,
            Pichler R, Leonhartsberger N, Kremser C, Kern J, Untergasser G,
            Gunsilius E and Hilbe W.
  TITLE     Biomarkers of evasive resistance predict disease progression in
            cancer patients treated with antiangiogenic therapies
  JOURNAL   Oncotarget 7 (15), 20109-20123 (2016)
   PUBMED   26956051
  REMARK    GeneRIF: Low expression level of ECSCR is associated with evasive
            resistance and disease progression in cancer.
REFERENCE   2  (bases 1 to 1031)
  AUTHORS   Chen L, Ma C, He J, He Y, Wang J, Gou L and Yang J.
  TITLE     Preparation of anti-hECSM2 mouse monoclonal antibodies and their
            application in the analysis of hECSM2 expression
  JOURNAL   Monoclon Antib Immunodiagn Immunother 32 (4), 301-308 (2013)
   PUBMED   23909426
REFERENCE   3  (bases 1 to 1031)
  AUTHORS   Pircher A, Fiegl M, Untergasser G, Heidegger I, Medinger M, Kern J
            and Hilbe W.
  TITLE     Favorable prognosis of operable non-small cell lung cancer (NSCLC)
            patients harboring an increased expression of tumor endothelial
            markers (TEMs)
  JOURNAL   Lung Cancer 81 (2), 252-258 (2013)
   PUBMED   23664449
REFERENCE   4  (bases 1 to 1031)
  AUTHORS   Kilari S, Remadevi I, Zhao B, Pan J, Miao R, Ramchandran R, North
            PE, You M, Rahimi N and Wilkinson GA.
  TITLE     Endothelial cell-specific chemotaxis receptor (ECSCR) enhances
            vascular endothelial growth factor (VEGF) receptor-2/kinase insert
            domain receptor (KDR) activation and promotes proteolysis of
            internalized KDR
  JOURNAL   J Biol Chem 288 (15), 10265-10274 (2013)
   PUBMED   23393131
  REMARK    GeneRIF: Endothelial cell-specific chemotaxis receptor (ECSCR)
            enhances vascular endothelial growth factor (VEGF) receptor-2/kinase
            insert domain receptor (KDR) activation and promotes proteolysis of
            internalized KDR.
REFERENCE   5  (bases 1 to 1031)
  AUTHORS   Lu J, Li C, Shi C, Balducci J, Huang H, Ji HL, Chang Y and Huang Y.
  TITLE     Identification of novel splice variants and exons of human
            endothelial cell-specific chemotaxic regulator (ECSCR) by
            bioinformatics analysis
  JOURNAL   Comput Biol Chem 41, 41-50 (2012)
   PUBMED   23147565
  REMARK    GeneRIF: identification of three novel full-length splice variants
            potentially encoding different protein isoforms
REFERENCE   6  (bases 1 to 1031)
  AUTHORS   Ikeda K, Nakano R, Uraoka M, Nakagawa Y, Koide M, Katsume A,
            Minamino K, Yamada E, Yamada H, Quertermous T and Matsubara H.
  TITLE     Identification of ARIA regulating endothelial apoptosis and
            angiogenesis by modulating proteasomal degradation of cIAP-1 and
            cIAP-2
  JOURNAL   Proc Natl Acad Sci U S A 106 (20), 8227-8232 (2009)
   PUBMED   19416853
  REMARK    GeneRIF: Knockdown of ARIA in HUVECs significantly reduced
            endothelial apoptosis without affecting either cell migration or
            proliferation. ARIA knockdown significantly increased inhibitor of
            apoptosis cIAP-1 and cIAP-2 protein expression
REFERENCE   7  (bases 1 to 1031)
  AUTHORS   Ma F, Zhang D, Yang H, Sun H, Wu W, Gan Y, Balducci J, Wei YQ, Zhao
            X and Huang Y.
  TITLE     Endothelial cell-specific molecule 2 (ECSM2) modulates actin
            remodeling and epidermal growth factor receptor signaling
  JOURNAL   Genes Cells 14 (3), 281-293 (2009)
   PUBMED   19267780
  REMARK    GeneRIF: ECSM2 is involved in cell-shape changes and actin
            cytoskeletal rearrangement, suppresses tyrosine phosphorylation
            signaling and ECSM2 can cross-talk with EGFR to attenuate the
            EGF-induced cell migration.
REFERENCE   8  (bases 1 to 1031)
  AUTHORS   Graubert TA, Payton MA, Shao J, Walgren RA, Monahan RS, Frater JL,
            Walshauser MA, Martin MG, Kasai Y and Walter MJ.
  TITLE     Integrated genomic analysis implicates haploinsufficiency of
            multiple chromosome 5q31.2 genes in de novo myelodysplastic
            syndromes pathogenesis
  JOURNAL   PLoS One 4 (2), e4583 (2009)
   PUBMED   19240791
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1031)
  AUTHORS   Armstrong LJ, Heath VL, Sanderson S, Kaur S, Beesley JF, Herbert JM,
            Legg JA, Poulsom R and Bicknell R.
  TITLE     ECSM2, an endothelial specific filamin a binding protein that
            mediates chemotaxis
  JOURNAL   Arterioscler Thromb Vasc Biol 28 (9), 1640-1646 (2008)
   PUBMED   18556573
  REMARK    GeneRIF: Characterize a novel cell surface protein ECSM2 that
            regulates endothelial chemotaxis and tube formation, and interacts
            with filamin A.
REFERENCE   10  (bases 1 to 1031)
  AUTHORS   Permana PA, Nair S, Lee YH, Luczy-Bachman G, Vozarova De Courten B
            and Tataranni PA.
  TITLE     Subcutaneous abdominal preadipocyte differentiation in vitro
            inversely correlates with central obesity
  JOURNAL   Am J Physiol Endocrinol Metab 286 (6), E958-E962 (2004)
   PUBMED   14970008
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: EU025066.1, DQ462572.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA2467148
            [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000618155.3/ ENSP00000479243.1
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from EU025066.1 and AI699314.1.
            On Nov 23, 2018 this sequence version replaced NM_001077693.3.
            Summary: The protein encoded by this gene is primarily found in
            endothelial cells and blood vessels, where it is involved in cell
            shape changes and EGF-induced cell migration. It can enhance the
            activation of vascular endothelial growth factor receptor-2/kinase
            insert domain receptor and also promote the proteolysis of
            internalized kinase insert domain receptor. This gene may play a
            role in angiogenesis-related diseases. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Jun 2014].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1031
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.2"
     gene            1..1031
                     /gene="ECSCR"
                     /gene_synonym="ARIA; ECSM2"
                     /note="endothelial cell surface expressed chemotaxis and
                     apoptosis regulator"
                     /db_xref="GeneID:641700"
                     /db_xref="HGNC:HGNC:35454"
                     /db_xref="MIM:615736"
     CDS             74..691
                     /gene="ECSCR"
                     /gene_synonym="ARIA; ECSM2"
                     /note="isoform 1 precursor is encoded by transcript variant
                     1; endothelial cell-specific molecule 2; apoptosis
                     regulator through modulating IAP expression; endothelial
                     cell-specific chemotaxis regulator"
                     /codon_start=1
                     /product="endothelial cell-specific chemotaxis regulator
                     isoform 1 precursor"
                     /protein_id="NP_001071161.1"
                     /db_xref="CCDS:CCDS75317.1"
                     /db_xref="GeneID:641700"
                     /db_xref="HGNC:HGNC:35454"
                     /db_xref="MIM:615736"
                     /translation="MGTAGAMQLCWVILGFLLFRGHNSQPTMTQTSSSQGGLGGLSLTT
                     EPVSSNPGYIPSSEANRPSHLSSTGTPGAGVPSSGRDGGTSRDTFQTVPPNSTTMSLSM
                     REDATILPSPTSETVLTVAAFGVISFIVILVVVVIILVGVVSLRFKCRKSKESEDPQKP
                     GSSGLSESCSTANGEKDSITLISMKNINMNNGKQSLSAEKVL"
     sig_peptide     74..145
                     /gene="ECSCR"
                     /gene_synonym="ARIA; ECSM2"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     146..688
                     /gene="ECSCR"
                     /gene_synonym="ARIA; ECSM2"
                     /product="Endothelial cell-specific chemotaxis regulator.
                     /id=PRO_0000365017"
                     /note="propagated from UniProtKB/Swiss-Prot (Q19T08.1)"
     misc_feature    218..376
                     /gene="ECSCR"
                     /gene_synonym="ARIA; ECSM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q19T08.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    446..508
                     /gene="ECSCR"
                     /gene_synonym="ARIA; ECSM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q19T08.1);
                     transmembrane region"
     misc_feature    530..598
                     /gene="ECSCR"
                     /gene_synonym="ARIA; ECSM2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q19T08.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    665..667
                     /gene="ECSCR"
                     /gene_synonym="ARIA; ECSM2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3TZW0; propagated from
                     UniProtKB/Swiss-Prot (Q19T08.1); phosphorylation site"
     regulatory      1008..1013
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECSCR"
                     /gene_synonym="ARIA; ECSM2"
                     /note="hexamer: ATTAAA"
     polyA_site      1031
                     /gene="ECSCR"
                     /gene_synonym="ARIA; ECSM2"
                     /note="major polyA site"
ORIGIN
        1 actccctctc tcttctccac tatggacaga gcctccactg agctgctgcc tgcccgccac
       61 atacccagct gacatgggca ccgcaggagc catgcagctg tgctgggtga tcctgggctt
      121 cctcctgttc cgaggccaca actcccagcc cacaatgacc cagacctcta gctctcaggg
      181 aggccttggc ggtctaagtc tgaccacaga gccagtttct tccaacccag gatacatccc
      241 ttcctcagag gctaacaggc caagccatct gtccagcact ggtaccccag gcgcaggtgt
      301 ccccagcagt ggaagagacg gaggcacaag cagagacaca tttcaaactg ttccccccaa
      361 ttcaaccacc atgagcctga gcatgaggga agatgcgacc atcctgccca gccccacgtc
      421 agagactgtg ctcactgtgg ctgcatttgg tgttatcagc ttcattgtca tcctggtggt
      481 tgtggtgatc atcctagttg gtgtggtcag cctgaggttc aagtgtcgga agagcaagga
      541 gtctgaagat ccccagaaac ctgggagttc agggctgtct gaaagctgct ccacagccaa
      601 tggagagaaa gacagcatca cccttatctc catgaagaac atcaacatga ataatggcaa
      661 acaaagtctc tcagcagaga aggttcttta aaagcaactt tgggtcccca tgagtccaag
      721 gatgatgcag ctgccctgtg actacaagga ggaagagatg gaattagtag aggcaatgaa
      781 ccacatgtaa attattttat tgtttcatgt ctgcttctag atctaaagga cactagcatt
      841 gccccagatc tgggagcaag ctaccaacag gggagactct ttcctgtatg gacagctgct
      901 gtggaaatac tgcctgcttc tcccacctcc tcagagccac aggaaagagg aggtgacaga
      961 gagagagcaa ggaaagtgat gaggtggatt gatactttct actttgcatt aaaattattt
     1021 tctagcctgc a
//
LOCUS       NM_001077697            1161 bp    mRNA    linear   PRI 31-MAY-2023
DEFINITION  Homo sapiens testis specific protein Y-linked 3 (TSPY3), mRNA.
ACCESSION   NM_001077697
VERSION     NM_001077697.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1161)
  AUTHORS   Gaudet P, Livstone MS, Lewis SE and Thomas PD.
  TITLE     Phylogenetic-based propagation of functional annotations within the
            Gene Ontology consortium
  JOURNAL   Brief Bioinform 12 (5), 449-462 (2011)
   PUBMED   21873635
REFERENCE   2  (bases 1 to 1161)
  AUTHORS   Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD,
            Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg
            B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T,
            Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin
            GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz
            TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha
            SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA,
            McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley
            KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM,
            Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan
            A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko
            Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC,
            Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS,
            Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones
            SJ and Marra MA.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: ERR279874.771.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1968968,
            SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000457222.6/ ENSP00000398163.2
            RefSeq Select criteria      :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006158.6.
            On Aug 16, 2010 this sequence version replaced NM_001077697.1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1161
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yp11.2"
     gene            1..1161
                     /gene="TSPY3"
                     /gene_synonym="CT78; TSPY; TSPY1; TSPY10"
                     /note="testis specific protein Y-linked 3"
                     /db_xref="GeneID:728137"
                     /db_xref="HGNC:HGNC:33876"
     CDS             47..973
                     /gene="TSPY3"
                     /gene_synonym="CT78; TSPY; TSPY1; TSPY10"
                     /note="Testis-specific Y-encoded protein 10; Cancer/testis
                     antigen 78"
                     /codon_start=1
                     /product="testis-specific Y-encoded protein 3"
                     /protein_id="NP_001071165.2"
                     /db_xref="CCDS:CCDS48204.1"
                     /db_xref="GeneID:728137"
                     /db_xref="HGNC:HGNC:33876"
                     /translation="MRPEGSLTYRVPERLRQGFCGVGRAAQALVCASAKEGTAFRMEAV
                     QEGAAGVESEQAALGEEAVLLLDDIMAEVEVVAEEEGLVERREEAQRAQQAVPGPGPMT
                     PESALEELLAVQVELEPVNAQARKAFSRQREKMERRRKPHLDRRGAVIQSVPGFWANVI
                     ANHPQMSALITDEDEDMLSYMVSLEVEEEKHPVHLCKIMLFFRSNPYFQNKVITKEYLV
                     NITEYRASHSTPIEWYPDYEVEAYRRRHHNSSLNFFNWFSDHNFAGSNKIAEILCKDLW
                     RNPLQYYKRMKPPEEGTETSGDSQLLS"
ORIGIN
        1 ggcccttcgc gcgcagtccc ttagggggcg cctggaagcc cggcgcatgc gccctgaggg
       61 ctcgctgacc taccgggtgc cagagaggct gcggcagggt ttctgtggcg tgggtcgggc
      121 agcacaggcc ttggtgtgtg cgagtgccaa ggagggcacc gccttcagga tggaggctgt
      181 acaggagggg gcggccgggg tggagagtga gcaggcggct ttgggggagg aggcggtgct
      241 gctgttggat gacataatgg cggaggtgga ggtggtggcg gaggaggagg gcctcgtgga
      301 gcggcgggag gaggcccagc gggcacagca ggctgtgcct ggccctgggc ccatgacccc
      361 agagtctgca ctggaggagc tgctggccgt tcaggtggag ctggagccgg ttaatgccca
      421 agccaggaag gccttttctc ggcagcggga aaagatggag cggaggcgca agccccacct
      481 agaccgcaga ggcgccgtca tccagagcgt ccctggcttc tgggccaatg ttattgcaaa
      541 ccacccccag atgtcagccc tgatcactga cgaagatgaa gacatgctga gctacatggt
      601 cagcctggag gtggaagaag agaagcatcc tgttcatctc tgcaagatca tgttgttctt
      661 tcggagtaac ccctacttcc agaataaagt gattaccaag gaatatctgg tgaacatcac
      721 agaatacagg gcttctcatt ccactccaat tgagtggtat ccggattatg aagtggaggc
      781 gtatcgccgc agacaccaca acagcagcct taacttcttc aactggttct ctgaccacaa
      841 cttcgcagga tctaacaaga ttgctgagat cctatgtaag gacctgtggc gcaatcccct
      901 gcaatactac aagaggatga agccacctga agagggaaca gagacgtcag gggactccca
      961 gttgttgagt tgaatatgat ggagcatcag attttaccta atacagcaga actcctaaaa
     1021 agttacagcc atatgcagga cggcagtact cagcatggtc ttatgcacag gaactaaagg
     1081 aaaaagagat cgagtcacaa aaattcagga agagggggta aatgtggatt gtatggaatg
     1141 aaaaataaac attctcaagg a
//
LOCUS       NM_001077700            5456 bp    mRNA    linear   PRI 31-JUL-2023
DEFINITION  Homo sapiens MIER1 transcriptional regulator (MIER1), transcript
            variant 2, mRNA.
ACCESSION   NM_001077700
VERSION     NM_001077700.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5456)
  AUTHORS   Wang S, Fairall L, Pham TK, Ragan TJ, Vashi D, Collins MO, Dominguez
            C and Schwabe JWR.
  TITLE     A potential histone-chaperone activity for the MIER1 histone
            deacetylase complex
  JOURNAL   Nucleic Acids Res 51 (12), 6006-6019 (2023)
   PUBMED   37099381
  REMARK    GeneRIF: A potential histone-chaperone activity for the MIER1
            histone deacetylase complex.
REFERENCE   2  (bases 1 to 5456)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (bases 1 to 5456)
  AUTHORS   Derwish R, Paterno GD and Gillespie LL.
  TITLE     Differential HDAC1 and 2 Recruitment by Members of the MIER Family
  JOURNAL   PLoS One 12 (1), e0169338 (2017)
   PUBMED   28046085
  REMARK    GeneRIF: Histone deacetylase assays confirmed that MIER2, but not
            MIER3 complexes, have associated deacetylase activity. Publication
            Status: Online-Only
REFERENCE   4  (bases 1 to 5456)
  AUTHORS   Lakisic G, Lebreton A, Pourpre R, Wendling O, Libertini E, Radford
            EJ, Le Guillou M, Champy MF, Wattenhofer-Donze M, Soubigou G,
            Ait-Si-Ali S, Feunteun J, Sorg T, Coppee JY, Ferguson-Smith AC,
            Cossart P and Bierne H.
  TITLE     Role of the BAHD1 Chromatin-Repressive Complex in Placental
            Development and Regulation of Steroid Metabolism
  JOURNAL   PLoS Genet 12 (3), e1005898 (2016)
   PUBMED   26938916
  REMARK    GeneRIF: Biochemical analysis of the BAHD1-associated multiprotein
            complex identifies MIER proteins as novel partners of BAHD1 and
            suggests that BAHD1-MIER interaction forms a hub for histone
            deacetylases and methyltransferases Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5456)
  AUTHORS   McCarthy PL, Mercer FC, Savicky MW, Carter BA, Paterno GD and
            Gillespie LL.
  TITLE     Changes in subcellular localisation of MI-ER1 alpha, a novel
            oestrogen receptor-alpha interacting protein, is associated with
            breast cancer progression
  JOURNAL   Br J Cancer 99 (4), 639-646 (2008)
   PUBMED   18665173
  REMARK    GeneRIF: Loss of nuclear MI-ER1 alpha might contribute to the
            development of invasive breast carcinoma
REFERENCE   6  (bases 1 to 5456)
  AUTHORS   Wang L, Charroux B, Kerridge S and Tsai CC.
  TITLE     Atrophin recruits HDAC1/2 and G9a to modify histone H3K9 and to
            determine cell fates
  JOURNAL   EMBO Rep 9 (6), 555-562 (2008)
   PUBMED   18451879
REFERENCE   7  (bases 1 to 5456)
  AUTHORS   Ding Z, Gillespie LL, Mercer FC and Paterno GD.
  TITLE     The SANT domain of human MI-ER1 interacts with Sp1 to interfere with
            GC box recognition and repress transcription from its own promoter
  JOURNAL   J Biol Chem 279 (27), 28009-28016 (2004)
   PUBMED   15117948
  REMARK    GeneRIF: the association of hMI-ER1 with Sp1 represents a novel
            mechanism for the negative regulation of Sp1 target promoters
REFERENCE   8  (bases 1 to 5456)
  AUTHORS   Ding Z, Gillespie LL and Paterno GD.
  TITLE     Human MI-ER1 alpha and beta function as transcriptional repressors
            by recruitment of histone deacetylase 1 to their conserved ELM2
            domain
  JOURNAL   Mol Cell Biol 23 (1), 250-258 (2003)
   PUBMED   12482978
  REMARK    GeneRIF: we investigated the role of hMI-ER1alpha and hMI-ER1beta in
            the regulation of transcription.We demonstrate that this repressor
            activity is due to interaction and recruitment of a trichostatin
            A-sensitive histone deacetylase 1 (HDAC1).
REFERENCE   9  (bases 1 to 5456)
  AUTHORS   Paterno GD, Ding Z, Lew YY, Nash GW, Mercer FC and Gillespie LL.
  TITLE     Genomic organization of the human mi-er1 gene and characterization
            of alternatively spliced isoforms: regulated use of a facultative
            intron determines subcellular localization
  JOURNAL   Gene 295 (1), 79-88 (2002)
   PUBMED   12242014
  REMARK    GeneRIF: Results demonstrate that alternate use of a facultative
            intron regulates the subcellular localization of hMI-ER1 proteins
            and this may have important implications for hMI-ER1 function.
REFERENCE   10  (bases 1 to 5456)
  AUTHORS   Paterno GD, Mercer FC, Chayter JJ, Yang X, Robb JD and Gillespie LL.
  TITLE     Molecular cloning of human er1 cDNA and its differential expression
            in breast tumours and tumour-derived cell lines
  JOURNAL   Gene 222 (1), 77-82 (1998)
   PUBMED   9813250
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF515447.1, SRR1660807.66948.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000401041.6/ ENSP00000383820.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK302061.1, AL500525.4 and
            BM987758.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 2, 2019 this sequence version replaced NM_001077700.2.
            Summary: This gene encodes a protein that was first identified in
            Xenopus laevis by its role in a mesoderm induction early response
            (MIER). The encoded protein functions as a transcriptional
            regulator. Alternatively spliced transcript variants encode
            multiple isoforms, some of which lack a C-terminal nuclear
            localization signal. [provided by RefSeq, May 2013].
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' coding region and uses an alternate upstream translation start
            site, compared to variant 1. The resulting isoform (b) has a longer
            and distinct N-terminus, compared to isoform a.
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..5456
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     gene            1..5456
                     /gene="MIER1"
                     /gene_synonym="ER1; MI-ER1"
                     /note="MIER1 transcriptional regulator"
                     /db_xref="GeneID:57708"
                     /db_xref="HGNC:HGNC:29657"
                     /db_xref="MIM:616848"
     CDS             40..1737
                     /gene="MIER1"
                     /gene_synonym="ER1; MI-ER1"
                     /note="isoform b is encoded by transcript variant 2;
                     mesoderm induction early response protein 1; mesoderm
                     induction early response 1 homolog; mesoderm induction
                     early response 1, transcriptional regulator"
                     /codon_start=1
                     /product="mesoderm induction early response protein 1
                     isoform b"
                     /protein_id="NP_001071168.2"
                     /db_xref="CCDS:CCDS53326.1"
                     /db_xref="GeneID:57708"
                     /db_xref="HGNC:HGNC:29657"
                     /db_xref="MIM:616848"
                     /translation="MDGASSGGGGSSEGGGGSSGSGYGVVARFSQCLAEFRTWLRTNWL
                     RFNADKTDVMLPSVESSSPGGSATSDDHEFDPSADMLVHDFDDERTLEEEEMMEGETNF
                     SSEIEDLAREGDMPIHELLSLYGYGSTVRLPEEDEEEEEEEEEGEDDEDADNDDNSGCS
                     GENKEENIKDSSGQEDETQSSNDDPSQSVASQDAQEIIRPRRCKYFDTNSEVEEESEED
                     EDYIPSEDWKKEIMVGSMFQAEIPVGICRYKENEKVYENDDQLLWDPEYLPEDKVIIFL
                     KDASRRTGDEKGVEAIPEGSHIKDNEQALYELVKCNFDTEEALRRLRFNVKAAREELSV
                     WTEEECRNFEQGLKAYGKDFHLIQANKVRTRSVGECVAFYYMWKKSERYDFFAQQTRFG
                     KKKYNLHPGVTDYMDRLLDESESAASSRAPSPPPTASNSSNSQSEKEDGTVSTANQNGV
                     SSNGPGEILNKEEVKVEGLHINGPTGGNKKPLHADMDTNGYETDNLTTDPKLAHMTARN
                     ENDFDEKSERPAKRRRVNSNGKESPGSSEFFQEAVSHGKFEELENTDD"
     regulatory      4481..4486
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MIER1"
                     /gene_synonym="ER1; MI-ER1"
                     /note="hexamer: ATTAAA"
     polyA_site      4503
                     /gene="MIER1"
                     /gene_synonym="ER1; MI-ER1"
                     /note="major polyA site"
     regulatory      4845..4850
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MIER1"
                     /gene_synonym="ER1; MI-ER1"
                     /note="hexamer: AATAAA"
     polyA_site      4868
                     /gene="MIER1"
                     /gene_synonym="ER1; MI-ER1"
     regulatory      5435..5440
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MIER1"
                     /gene_synonym="ER1; MI-ER1"
                     /note="hexamer: ATTAAA"
     polyA_site      5456
                     /gene="MIER1"
                     /gene_synonym="ER1; MI-ER1"
ORIGIN
        1 aggcccctcc caggctctga gtctcccggc tgcaggcgga tggatggggc ttcttcaggc
       61 ggtggcggca gcagcgaagg tggcggcggc agcagcggca gcggctatgg tgtggtcgct
      121 cgattctccc agtgcctggc tgagtttcgg acgtggttaa gaaccaactg gttgaggttc
      181 aatgcagaca agacggatgt gatgctgcca tctgttgaat cttcaagtcc aggaggttca
      241 gcaacatcag atgaccatga atttgatcca tcagctgaca tgctggttca tgattttgat
      301 gatgaacgaa cattagaaga ggaagaaatg atggaaggag aaacaaactt cagctctgaa
      361 atagaagatc ttgcaaggga aggcgacatg ccaattcatg aacttctcag cctttatggt
      421 tatggtagta ctgttcgact acctgaagaa gatgaggaag aggaagaaga ggaagaagaa
      481 ggtgaagatg atgaagatgc tgataatgat gacaacagtg gctgtagtgg ggaaaataaa
      541 gaggagaata taaaggattc atcaggtcag gaggatgaaa ctcagtcttc caatgatgat
      601 ccatcacaat ctgttgcttc tcaagatgcc caggaaataa tccgcccacg tcgatgtaaa
      661 tattttgata caaatagtga agtagaagaa gaatctgaag aagatgaaga ttatattcca
      721 tcagaagact ggaaaaagga gattatggtg ggctccatgt ttcaagcaga aattccagtt
      781 ggcatttgta gatacaaaga aaatgaaaaa gtatatgaaa atgatgatca gctcctgtgg
      841 gaccctgagt acttaccaga agataaagtg attatatttc ttaaagatgc atctagaaga
      901 acaggtgatg agaagggtgt agaagcaatt cctgaaggat ctcacataaa agacaatgaa
      961 caggctttat atgaattggt taaatgcaat tttgatacag aagaagcatt gagaagatta
     1021 agatttaatg taaaagcagc tagagaggaa ttatctgttt ggacagagga agagtgtaga
     1081 aattttgaac aagggctgaa ggcctatgga aaggattttc atttgattca ggctaataaa
     1141 gtccgaacaa ggtcagttgg tgaatgtgta gcattctatt acatgtggaa aaaatctgaa
     1201 cgttatgatt tctttgctca gcaaacacga tttggaaaga agaaatataa tcttcatcct
     1261 ggtgtaacgg attacatgga tcgtcttcta gacgaaagtg aaagtgctgc atctagtcga
     1321 gcaccatccc ctcccccaac tgcatcaaac agtagtaaca gccagtctga gaaagaagat
     1381 ggcactgtaa gcactgctaa tcaaaatgga gtgtcatcta atggaccagg tgaaatatta
     1441 aacaaagagg aagtaaaagt tgaagggtta cacattaatg gaccaacagg tggaaataag
     1501 aaaccacttc atgcagatat ggatactaat ggttatgaaa cagataacct taccactgac
     1561 ccaaaacttg cccatatgac tgcaagaaat gaaaatgatt ttgatgaaaa aagtgagaga
     1621 cctgccaaaa ggcgaagggt aaacagcaat ggaaaagaaa gtccaggttc ttctgaattt
     1681 ttccaagaag cagtctcaca tgggaaattt gaagaacttg aaaacacaga tgactaaatt
     1741 ttagacctat tttactttct ttggagtaaa ttctggtgtg actaaaattt tcagggttga
     1801 tgggttacct taaaaagttg atttccttga agcagtttga aaatttgaat tgagtcttaa
     1861 ctttaggaaa tgaggtttca taattctgcc ttttgcagat ttttttactt taaagctgtc
     1921 agactctttt aagggtattt taaaaattag taaatttgaa tgaactaaag atatatctct
     1981 accttctcat ttgaatatct ttagttcatt cagatttact aattttggta aatctgaatg
     2041 aactaaagat gtatctgtac cttctcattt gatgtattaa tcataaaatt tcactacaag
     2101 gtaatttttg cttagtttga tggatgaatg ggaaactcaa gtccaaattt ctgcttaata
     2161 ccaatttctc tgagtttctt gaaatgtctt taaaacagac atttttctca ccaaacagtt
     2221 tgagtatctt tattaaggaa acccttacga atcctgaaaa ttatgctagc atgatttttt
     2281 tatatataga agtttaaaaa taaaccaggt caggtttgta tatgtaaaat tgttgacatc
     2341 aatgatgtct ttccatattc ttatctgggc ttaagaaata cattctgtat ttttccagat
     2401 tctttgtagc ctttgaaaga tttttacagt acatatgtct tgactgagct gtcctttctt
     2461 aatacaaaag cgtgtataat tttcttaact tgtacagttg gtaaactttt atgagaggaa
     2521 ttgttattct gagtctgtca gctttcattt tattttgcta aggtttttct aatgaatttt
     2581 taagtgtttg tgtagtaatt aagtcatatt tcttatccag gtggttaaag cattcataaa
     2641 ggattataaa attttttttt tttttttttt ttttaaattt ctacttaagg gcaagtaatt
     2701 tgagaattct gaaattaagc atgatgctta gattgcagtt tgttttgcat ttgctataat
     2761 tttcaaaatt atttttgaag caagacaaaa gtttaatgtc agcttaagtg cttaaatata
     2821 tcatgctgac cagaatcctg ttatttttat atgcatcata aaatttccca tttctgcatt
     2881 aaataaacag aggagggggg tcaagtgata cttagatatt ggcacacaca aggaacaact
     2941 gttggcaggc agtatcgatt ttatgaagag aaagtgaagt ttgaaaactt ttcaaacttt
     3001 tctagttaca atccaatttt tcagatttga taatgctttt ccaaagtgaa aataagatac
     3061 acaataatca ttgctctgtg tgattacaga taggattatc catctgcata gccttgtaaa
     3121 agtgccattt tatttttagt gctaaattct tgttaaataa tgtagtttta tatagctgat
     3181 agaccaacct atatccaaac ttttataaaa tattaattat tcttgttttt ctcacacagg
     3241 catactccaa atgcttcttc cagttcattt ttcagccatc agttcaagag ccaatgcctt
     3301 tttaaaataa agcttctgtg gtcttgtttt taatggctca actgtctgat gtaattgagt
     3361 gaaggtttgc actgagaaat tagcattcag gccttacccc catgaagtat tactgttaac
     3421 atatgttcgg actgcttccc ttcaccaatg tgaacaactt tttttcccaa acagtgttaa
     3481 aagccacttt gcaacacttg acttcatctt aatgtacatt cactgttgtt acatacatat
     3541 ctaagtaaat caaagttttg ggtggaagtg ttgagaagta tgagtttttt gttgtttttg
     3601 ttttacttaa aacttttaat ttatccagaa tggcagtagc tttagcaagc agatggtcac
     3661 aatctgtttt ctaaatcatt ttttattaaa tgaatccaaa gtatcctagc tctttgtcaa
     3721 agatggtctg tagaaatgtt tttaaagatt agggatgctg tactttttga attgttgcag
     3781 tgttggagat gccattttca cctttttaaa aagatgcatt ttatttgcag gtttgtgaag
     3841 ttcttgcaaa ctcttactac agaaatgttt taaatacatt ctcaggcatg tttgcaaaaa
     3901 tatggcacat gtatacattt taggaaatgt tacttttgtt aatctttaaa aaatacacct
     3961 aatgaaagac attccactat tatgcgtaat gctcagcttt ttgtaaagaa atatttaatt
     4021 gtattttgtg tttatacagg tatttcacac aataatttgt tcttaatgca gccactataa
     4081 cttgataagt cattgcacta tttaaaaagt tttagtaata tcatgaattt aatttgctta
     4141 agatttagta catttcagaa cttttgaact tttgacaaat tgcattggaa aaagaagtct
     4201 gttaatagtg atttagtctc cccgcctcat tcccaccccc aacaaagcac tatcattttc
     4261 atttggaatg ggtattttct gtttcatgat gtattttcaa atagagttca ggatctgcaa
     4321 ttcagttcaa cacaagtttg ttgagcttta aaatgtattt gaagtaatat ttaaataggc
     4381 atttaaaatt tcaaattaga tgttaaattt atgcatagta attttgcact gtaaaataat
     4441 tcccttctcc cattccttgt ctgccattct gaatatgctt attaaaatat ttttttaaac
     4501 atatttgcct acataatact gtgtgaatat tttcattaga ttaattcact aagattttat
     4561 tagagattgt ttgaatgatg catgttattg acaaggcaaa tatatatata tacacagtct
     4621 gtttcttcta ttcctagaca tattgcacta ctttttcagt ggttcttggt cccctttacc
     4681 acatcttggg tgatgtattt ttgtcttctt cccctttgcc acaagagatc ctttcagtcc
     4741 ctagacctcc attcactctg tttctcttct gctggattat ataatttaaa aataatgtgt
     4801 tcccgtattt tgtagtggag ttcatatcac attatgtttt gcaaaataaa acttgttttg
     4861 tcacaatatt ttctttgcta tcgatggata attaggagtg ggcacttgga ataactgagg
     4921 gctggtgaat ataataggca atatttacat ggggtgtgta actaaatacc aaatcagata
     4981 gtaaggtttt cccaactata atccatattc atgaaaaatg ccagtgtgga aaaccatgta
     5041 acatacagaa gaacaggagt ttccaaattt taacctttta ttctaaaaat gactctcttc
     5101 tctcaaaatg actttttctg tatcacataa ttctactgat acaacttttt accgtaaaaa
     5161 ttaactctct tctttaatat caagttcatc ctttgcagaa tcttaaaggg ttttccacac
     5221 atccatccac ccacttacag actgatttca tgtatctgaa tatctgatta acctttcttt
     5281 tctaatacca gttttccata aactcttgtc atgtaccctt agtattgtgc tgatcttttg
     5341 ccaactatac ggacgtggag tttttccttt tcagaatatg attattttca atttgtcttt
     5401 agttagtata aagaattata gaatgtataa tgtaattaaa atgtcatttt gcttgc
//
LOCUS       NM_001077706            4507 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens epithelial cell transforming 2 like (ECT2L), transcript
            variant 1, mRNA.
ACCESSION   NM_001077706
VERSION     NM_001077706.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4507)
  AUTHORS   Rose JE, Behm FM, Drgon T, Johnson C and Uhl GR.
  TITLE     Personalized smoking cessation: interactions between nicotine dose,
            dependence and quit-success genotype score
  JOURNAL   Mol Med 16 (7-8), 247-253 (2010)
   PUBMED   20379614
  REMARK    GeneRIF: Clinical trial of gene-disease association and
            gene-environment interaction. (HuGE Navigator) Erratum:[Mol Med.
            2012;18(1):729]
COMMENT     ##Evidence-Data-START##
            CDS exon combination   :: DQ904331.1, BC146884.1 [ECO:0000331]
            RNAseq introns :: single sample supports all introns SAMEA2144333,
            SAMEA2158569 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000541398.7/ ENSP00000442307.2
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL121834.20.
            On Aug 7, 2020 this sequence version replaced NM_001077706.2.
FEATURES             Location/Qualifiers
     source          1..4507
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q24.1"
     gene            1..4507
                     /gene="ECT2L"
                     /gene_synonym="ARHGEF32; C6orf91; dJ509I19.2; dJ509I19.3;
                     dJ509I19.5; FBXO49; LFDH"
                     /note="epithelial cell transforming 2 like"
                     /db_xref="GeneID:345930"
                     /db_xref="HGNC:HGNC:21118"
     misc_feature    269..271
                     /gene="ECT2L"
                     /gene_synonym="ARHGEF32; C6orf91; dJ509I19.2; dJ509I19.3;
                     dJ509I19.5; FBXO49; LFDH"
                     /note="upstream in-frame stop codon"
     CDS             350..3064
                     /gene="ECT2L"
                     /gene_synonym="ARHGEF32; C6orf91; dJ509I19.2; dJ509I19.3;
                     dJ509I19.5; FBXO49; LFDH"
                     /note="ECT2-like; lung specific F-box and DH domain
                     containing protein; putative guanine nucleotide exchange
                     factor LFDH; F-box protein 49"
                     /codon_start=1
                     /product="epithelial cell-transforming sequence 2
                     oncogene-like"
                     /protein_id="NP_001071174.1"
                     /db_xref="CCDS:CCDS43508.1"
                     /db_xref="GeneID:345930"
                     /db_xref="HGNC:HGNC:21118"
                     /translation="MESFHTRFSAWTPFSNKSLNRQLFQERVALISHWFDLWTNKQRQE
                     FLFAIFLRCTKSQLRFVQDWFSERMQVAKVDFSTVLPRFISLYIFSFLSPKDLCAAAQV
                     SWPWKFLTEQDCLWMPKCVKFGWFLPYTPTDNEYGAWKRHYIACVSHLDWLTPREAAAT
                     YGTLNEPKTEDEELLERQREKCLRKRIWEKIALRKKELFKVRPPWVSGTCCSSVLKPRC
                     QPRLSQTVRERVGLHEALEKQLVLTSLETLPKRSNISGSHSYPLLSKKNWHGVHKNDDR
                     SSYALRPHFMLISSRIPAYEMVMESVKAGVVSVVYEHSVTLESLLYLIEKALDGQKAQS
                     IGIFSDGDSREINLLQGYKIGVKNLLRPEVRDFWEKLGSYVATEEEGGHVDFFVPLGAS
                     EAGIEVLSQLSQLTGTFFTAPTGIATGSYQHILSDWLGSQWGKAPSSIYFCESKLQTWS
                     SFTDFLEETLKTVRKQLYPFFKELQKSISGRMIGQFMFDTMGMTNILNNQDTAQALADG
                     LMELSKEDSERNVVEDNSWDTKSRLSKNDLNFEALINLERILQKDSAEKRARVVRELLQ
                     SERKYVQILEIVRDVYVAPLKAALSSNRAILSAANIQIIFCDILQILSLNRQFLDNLRD
                     RLQEWGPAHCVGEIVTKFGSQLNTYTNFFNNYPVILKTIEKCREMIPAFRTFLKRHDKT
                     IVTKMLSLPELLLYPSRRFEEYLNLLYAVRLHTPAEHVDRGDLTTAIDQIKKYKGYIDQ
                     MKQNITMKDHLSDIQRIIWGCPTLSEVNRYLIRVQDVAQLHCCDEEISFSLRLYEHIHD
                     LSLFLFNDALLVSSRGTSHTPFERTSKTTYQFIASVALHRLLIENIPDSKYVKNAFILQ
                     GPKYKWICATEIEDDKFLWLSVLRNAIKSSMEK"
ORIGIN
        1 acccctctcc ggagctgcgg cccgagttgg cgcactcgat tttcactgcg cggttccaag
       61 aggagacagc cgccactgta ccgggcctca tagccacttc ctagaggtaa agaaaaagtc
      121 aacctccttg gctgatgaat cacggcagtt tctaagtagc atttcctgga acgttcttaa
      181 tgcttcccat tttcccagca aagtaaaaaa caacttttgt ttaaattcag atttgggtga
      241 aagcaggtga tcttaattgc acacctattg aaataaacct gtagtttcta gaagtggaag
      301 aaaatttgct gagacgtcag ctggggattc ttcctggaga actccagaaa tggagagctt
      361 ccacaccaga tttagtgcct ggacaccttt tagcaacaag tcattaaata gacagctctt
      421 tcaggaaaga gtggctctta taagtcattg gtttgacctc tggactaaca agcaacgtca
      481 agaattctta ttcgcaattt ttttaagatg cactaaatca caattaaggt ttgtccaaga
      541 ctggttttca gaaaggatgc aagtggccaa agtggacttc tctacagtgt taccacgctt
      601 catttctcta tatatctttt cctttttgag tccgaaagat ttgtgtgccg ctgcccaagt
      661 cagctggccc tggaagtttt taactgaaca ggattgctta tggatgccca aatgcgttaa
      721 gttcggatgg tttctgccct atactccaac agataatgag tatggtgctt ggaagcgcca
      781 ttacattgct tgtgtgtccc acttagactg gctgacacct agggaggctg ctgctactta
      841 tgggacgctg aatgaaccca aaacagaaga tgaggaacta ctggagagac aaagagaaaa
      901 gtgcctgagg aaaagaattt gggagaaaat tgcactacgt aagaaggagt tattcaaagt
      961 tcgaccccct tgggtgagtg gaacttgctg ctctagcgtg ctaaagccca gatgccaacc
     1021 acgcctctcc cagactgtaa gggagcgagt gggattacat gaagctttgg agaaacagct
     1081 tgttttgaca tcgttagaaa ccttgcccaa gcgaagcaat atttctggaa gccattccta
     1141 ccctttatta tcaaagaaaa attggcatgg agttcataaa aatgatgaca gatcttcata
     1201 tgctctccgg ccacacttca tgttaatatc atcccggatt cctgcgtatg agatggtgat
     1261 ggagagtgtg aaggctggtg ttgtttctgt ggtatatgaa cacagcgtaa ccttggaaag
     1321 ccttctgtat cttatagaaa aagctctgga tgggcagaag gcacagagca tcggaatatt
     1381 tagcgatgga gacagcagag aaatcaattt actccaaggc tataaaattg gtgttaaaaa
     1441 tttactgagg cctgaagtga gagatttctg ggagaaatta ggaagctatg tggccactga
     1501 agaagaaggg ggtcacgtgg acttcttcgt gccccttgga gcatcagagg caggaattga
     1561 agttctttcc cagctgtctc aactaactgg cacgttcttt acggccccca ctgggattgc
     1621 aactggctct taccagcaca ttcttagtga ttggctggga tcccaatggg gaaaggcccc
     1681 ctcttccatc tacttctgcg aatcgaagct acagacgtgg tccagcttca cagacttcct
     1741 agaagaaacc ttgaaaacag taaggaagca gctgtatcct ttcttcaagg aactgcagaa
     1801 gagcatcagt ggcaggatga tagggcagtt tatgtttgac accatgggta tgaccaacat
     1861 tctaaacaac caagatactg cgcaagctct ggcagatgga ttgatggagt tgtcaaaaga
     1921 agattctgaa agaaatgttg tagaagacaa ttcttgggac acaaagtcca ggctcagcaa
     1981 aaatgattta aattttgaag cactgattaa tctggagaga atactccaga aggactcagc
     2041 agaaaagcga gctagagttg tcagagaact cttacagagt gagagaaaat acgtgcagat
     2101 actggaaatt gtgagagatg tttatgtcgc accactgaaa gcagcattgt catcaaacag
     2161 agcgattctg agtgctgcca atatccagat cattttctgt gacattctac agattttaag
     2221 tctcaacagg cagtttctag ataacctgag agacagactg caggaatggg gcccagctca
     2281 ctgtgtggga gaaatagtca cgaagtttgg aagccagtta aacacatata ccaatttctt
     2341 caacaattac cctgtcattc tgaaaactat tgagaagtgc agagaaatga taccagcatt
     2401 ccgaactttc ctgaagaggc atgataagac cattgttacc aaaatgctga gcctgccaga
     2461 gctgctgctg tacccatccc gaagatttga agaatacctt aatcttctct acgctgtcag
     2521 gcttcatacc cctgcagagc atgttgaccg tggggacttg accactgcaa ttgaccaaat
     2581 caaaaaatat aaaggttata tagatcagat gaagcaaaac atcactatga aggatcatct
     2641 gtcagatata cagagaatca tctggggatg ccctactcta tcagaagtaa acagatatct
     2701 gattagggta caagatgtag cccaacttca ttgctgtgat gaagaaataa gtttctcttt
     2761 aaggctctat gaacacatcc atgatctcag ccttttcctc ttcaatgatg ccctgctcgt
     2821 ttctagtcgg ggcacatctc acactccatt tgagaggact tcaaaaacaa cctaccagtt
     2881 cattgcatca gtggcccttc atcggttact catagaaaat attccagatt ccaagtatgt
     2941 caagaatgca tttattcttc agggtccaaa atataaatgg atttgtgcta cagaaataga
     3001 ggatgataag ttcctatggc tgtcagtact tcgaaatgca atcaaaagca gtatggagaa
     3061 gtgagaccga acttgaaaac ttcaggggtg ccaattctcc ccagcaaaga cagacaacat
     3121 gtattttctg ttccaaaata tccagtaaga aacagaataa ctgtcatgga tgatgagata
     3181 aactaagatg acccatagga tctttccaac ttttaaactt tatcacttgt gctcacttat
     3241 gtagaatgta taagtacatt ttgagtccaa aattttgaac tacttctttt ggtagctgta
     3301 tttcatggat aatattattt agagtaattt gatgtgatga aacctaagac agagcaagca
     3361 cattgtgtaa agctttgttt tatgatctaa tgaaaaaagc agaatgaaag tgtttcttaa
     3421 gtgatcagtc tagaaagata ttttaatttg ttggtgattt accattttta acattttcat
     3481 gaaacaatta ttgatttaaa atatggataa gagggctggg catgatgact cacgcctgta
     3541 atcccagcac tttgggaggc tgaggtggca gattacctga ggtcaggagt ttgagaccag
     3601 cctcaccaac atggagaaac cccgtctcta ctaaaaatac aaaattagcc aggcatggtg
     3661 gcacacgcct gtagtccctg ctacttgcga cgctgaggca ggagaagaat cacttgtacc
     3721 cgggagtcgg aggttgtagt aagctgagat ggctccattg cacttcagcc tgggtgacaa
     3781 gagcgaacct ctgtctcaaa aaaaaaagaa aaaaaaaagg acaagaaata caaatggcaa
     3841 tttactcaaa aacttgtcac acttatcctt agtatgaatg tactcctcta gagagcatta
     3901 aagatatacc actacaaagt actaaaaagt tttctataat ttttaagtgt tatttattgg
     3961 aaggctaaat tctaagaagc tttaacaaat atttttgaca ttgttaaatt agaaggctat
     4021 ttttaaaaag catattttaa aaaacaaaac taaatggaaa cagcaaaact tgcttgtaat
     4081 gaaatacagc tgagtaaaaa tgtttctttg aaaacaaaga cactcagaaa aacaggtgtt
     4141 gagtagtttc ctgggccttt aatgctttaa atttattatt taacaactaa agccatactg
     4201 aaagccactt ggaaacttca gctgatgtat atttttacct agatattgtc aggtaaaaat
     4261 tgtattaatc ttggaagctt gaggttgtca gtttcccttg ttcttcaaat tcttgtttac
     4321 agtaacaaag tctatcggtg cagtttagga ctgtgaatct atagtattta aacatttttt
     4381 ctttcagaaa tgaaaataca aaatcttcta tttcttaaaa ctttaaatct tgttaaaaag
     4441 atgaacaaaa gttaaaatat tatgctgttt tattggtgta aaaccacact tctgattctg
     4501 ccaagat
//
LOCUS       NM_001077710            3880 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens family with sequence similarity 110 member C (FAM110C),
            mRNA.
ACCESSION   NM_001077710
VERSION     NM_001077710.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3880)
  AUTHORS   Buljan M, Ciuffa R, van Drogen A, Vichalkovski A, Mehnert M,
            Rosenberger G, Lee S, Varjosalo M, Pernas LE, Spegg V, Snijder B,
            Aebersold R and Gstaiger M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   2  (bases 1 to 3880)
  AUTHORS   Varjosalo M, Sacco R, Stukalov A, van Drogen A, Planyavsky M, Hauri
            S, Aebersold R, Bennett KL, Colinge J, Gstaiger M and Superti-Furga
            G.
  TITLE     Interlaboratory reproducibility of large-scale human protein-complex
            analysis by standardized AP-MS
  JOURNAL   Nat Methods 10 (4), 307-314 (2013)
   PUBMED   23455922
REFERENCE   3  (bases 1 to 3880)
  AUTHORS   Wang J, Huo K, Ma L, Tang L, Li D, Huang X, Yuan Y, Li C, Wang W,
            Guan W, Chen H, Jin C, Wei J, Zhang W, Yang Y, Liu Q, Zhou Y, Zhang
            C, Wu Z, Xu W, Zhang Y, Liu T, Yu D, Zhang Y, Chen L, Zhu D, Zhong
            X, Kang L, Gan X, Yu X, Ma Q, Yan J, Zhou L, Liu Z, Zhu Y, Zhou T,
            He F and Yang X.
  TITLE     Toward an understanding of the protein interaction network of the
            human liver
  JOURNAL   Mol Syst Biol 7, 536 (2011)
   PUBMED   21988832
  REMARK    Erratum:[Mol Syst Biol. 2017 Dec 18;13(12 ):965. PMID: 29254952]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3880)
  AUTHORS   Luciano M, Hansell NK, Lahti J, Davies G, Medland SE, Raikkonen K,
            Tenesa A, Widen E, McGhee KA, Palotie A, Liewald D, Porteous DJ,
            Starr JM, Montgomery GW, Martin NG, Eriksson JG, Wright MJ and Deary
            IJ.
  TITLE     Whole genome association scan for genetic polymorphisms influencing
            information processing speed
  JOURNAL   Biol Psychol 86 (3), 193-202 (2011)
   PUBMED   21130836
REFERENCE   5  (bases 1 to 3880)
  AUTHORS   Hauge H, Fjelland KE, Sioud M and Aasheim HC.
  TITLE     Evidence for the involvement of FAM110C protein in cell spreading
            and migration
  JOURNAL   Cell Signal 21 (12), 1866-1873 (2009)
   PUBMED   19698782
  REMARK    GeneRIF: Depletion of FAM110C by short interfering RNA reduced
            integrin-mediated filopodia formation, hepatocyte growth
            factor-induced migration, and phosphorylation of the Akt1 kinase in
            the epithelial cell line HepG2.
REFERENCE   6  (bases 1 to 3880)
  AUTHORS   Hauge H, Patzke S and Aasheim HC.
  TITLE     Characterization of the FAM110 gene family
  JOURNAL   Genomics 90 (1), 14-27 (2007)
   PUBMED   17499476
  REMARK    GeneRIF: Ectopic eexpression impairs cell cycle progression through
            the G1 phase; overexpression induces aberrant microtubules.
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.43040.1,
            SRR1803612.253096.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968189 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000327669.5/ ENSP00000328347.4
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC097643.3.
            On Nov 22, 2018 this sequence version replaced NM_001077710.2.
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3880
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.3"
     gene            1..3880
                     /gene="FAM110C"
                     /note="family with sequence similarity 110 member C"
                     /db_xref="GeneID:642273"
                     /db_xref="HGNC:HGNC:33340"
                     /db_xref="MIM:611395"
     misc_feature    52..54
                     /gene="FAM110C"
                     /note="upstream in-frame stop codon"
     CDS             121..1086
                     /gene="FAM110C"
                     /codon_start=1
                     /product="protein FAM110C"
                     /protein_id="NP_001071178.2"
                     /db_xref="CCDS:CCDS42645.1"
                     /db_xref="GeneID:642273"
                     /db_xref="HGNC:HGNC:33340"
                     /db_xref="MIM:611395"
                     /translation="MRALAALSAPPNERLLPRDPAATRDPDAARPARRSAVERLAADRA
                     KYVRGRPGTGRGVASEGSGPGAIKCPGNDPGPPARAPAPVARRAIARKPLRPDSLIIYR
                     QKCEFVRGSGADGPRASLVKKLFQGPGKDKAPVPRTGDEGKAGNPETVPTTPGPAADPA
                     IPETPAPAARSAAPSSVPAAPPGPEPRVVRRRGLQRSQSDLSSRYSAALAESDTFFQYC
                     GLDPEVVEALGRENFTAGSDCVTLKVRSVSVATSGSGFSRHSGGDDEGLQEEELIEQVP
                     STTSVIERNARIIKWLYTCKKAKETPSQEQSRTRGSKPSR"
     misc_feature    121..372
                     /gene="FAM110C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q1W6H9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    451..729
                     /gene="FAM110C"
                     /note="propagated from UniProtKB/Swiss-Prot (Q1W6H9.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    841..843
                     /gene="FAM110C"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q1W6H9.2); phosphorylation site"
     regulatory      1451..1456
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM110C"
                     /note="hexamer: AATAAA"
     polyA_site      1474
                     /gene="FAM110C"
     regulatory      3855..3860
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM110C"
                     /note="hexamer: AATAAA"
     polyA_site      3880
                     /gene="FAM110C"
                     /note="major polyA site"
ORIGIN
        1 actggggcgc cgttccccac ccggcgcgga cttcggaacc ggccctggga ctgactggct
       61 ctaccactcg agcgcgtctc cgctggaccc ggaaccccgg tcggtccatt ccccgcgaag
      121 atgcgcgccc tggcggccct gagcgcgccc ccgaacgagc ggctccttcc ccgggacccc
      181 gcggctaccc gggaccccga cgccgcgcgg ccggcgcgca ggagcgcagt ggagaggctg
      241 gcggcggatc gcgccaagta tgtgcggggt cggccgggga ctggccgggg cgtcgcttcc
      301 gagggcagcg gcccgggggc gatcaagtgc ccggggaacg accctgggcc cccggcccgc
      361 gccccggccc cggtggcgcg cagggctatt gcgcggaagc cgttgagacc ggactcgctg
      421 atcatctacc ggcagaaatg cgaattcgtg cgaggatcgg gcgccgacgg ccccagggca
      481 agcctggtga agaagctctt ccaggggccg ggtaaggaca aggcgccggt gccccggacg
      541 ggagacgagg gcaaggccgg gaacccggag acggtcccga ccactcctgg ccccgcggcg
      601 gaccccgcaa tccccgagac cccagcccca gccgcgcggt ccgcggcgcc ctccagtgtc
      661 ccggccgcgc cccctgggcc agagccgcgg gtggtgaggc gtcgggggct gcagcgctca
      721 cagtcggacc tcagctcccg ctattccgct gccttggccg agtctgacac cttcttccag
      781 tactgcggcc tggaccccga ggtggtggag gccctgggga gggagaactt caccgcgggg
      841 tcggactgtg tgaccctcaa ggtgcgcagc gtgagcgtcg ccacctccgg cagcggcttc
      901 tcccggcaca gcggcggcga cgacgagggg ctgcaggagg aggagctgat agagcaggtg
      961 cccagcacca cttcggtcat cgagaggaac gcccgcatca tcaagtggct gtacacctgt
     1021 aagaaggcca aggagacccc cagccaggag cagagccgga cccgaggaag caaaccttcc
     1081 cgatgatgaa gacttcttga aggatttcat gggtgatttg ggatcccagg accatttggc
     1141 tagtgtgcct aggtgaccac atgattgctg ttttaccagg aatgcagcat cccattgaca
     1201 aaacaagtgc tctgagaagg tttaaaatac tacagagaat atgggaacac agaccttgaa
     1261 atttagctga gttgtaacag ctgaaactcc aagaggtgtc ttccttgttt gaggtgaaac
     1321 tagtgttgct tccagagggc agctggaaac cgtaaagctg tttggaaatc tttttgactg
     1381 acttgctgac aaagaggtac tgtgatgcat tttaacaata tctaagttga ttttttttta
     1441 aatcaaggaa aataaaaacc aagcatgaat gctatggtat gtgccccttt tgaccatcct
     1501 gggctgatta acatcattta aatcaaagta atcataaaaa ggcatattct acttcaatta
     1561 tgtggtcaaa taagagtaaa cacacacact cacacatgct gaccccaatt gccagagcat
     1621 tactgcacta taaattacgg ttaattccca aattatacta ctgtttatct tatttaacaa
     1681 gtcagaaagc acttttaaaa taacttgagg gctacaaggt cattctatta atgtcattct
     1741 ccattcgggt tgtaggcatg tggaagtacc cattaaaaga taagttagag tttaaatact
     1801 gataaacaaa accttttatt gcaactggac agtttctgga gagttagcgg aagaatcttg
     1861 gagtttcctt tggtcagatg aatacaacat ttcacttttg cagcactatt tagaatgtac
     1921 tccatggttc tcttgttccc aacttccaaa aagaacagaa aactttggtt tacacagaac
     1981 acgggcatct gaggcaggac ctcttccctg ccctttgatc tgactcacac ctccacatat
     2041 gacgtaatca acccaaattt gacaccaatt cactcttttc tgcaaagggc atattttgaa
     2101 acaagggaca gcctgagggc ggctataatg agaatgttca tgggggttac tgggtcccta
     2161 attctgaact tgcttatgac acccagagtg aatagattca gattcagaac cttctgagaa
     2221 ataacccaaa gaaaatttgt tacccagcca attcttcgaa agcttaatat caaaatatat
     2281 cttttcaaga agaaaatcgt tagagagaag aatgtggagg ggagagaaat gggtttctca
     2341 ttgatatgat attttgttaa ccatttcatt ttgaattatt caagttttgg ttaatattgt
     2401 attctttttt cgtaactatt ttaccgtgag agtaggtcat tgggttactt agatatttat
     2461 ttttacacag ttattagtct tcagatagtt ttattttact tcatatgatt ttagtttttg
     2521 tcagtataat tttaaatcat gtttttcttg gtcatctctt tgtgtatatt gtgtaattgg
     2581 attttcattg actgcaagtg gagtgtttgc cactcaattc agtactcagt actatggtga
     2641 cttgttttca aataagtctc agatacacat ttagggagcc tttgctggcc gaatatagac
     2701 tctgtcagga cagcaggtcc cctgatctaa gaattttccc caatggttgc tctaaaaatg
     2761 ctgctatttt gctgttcact gtattgcact tagttaaaaa gaagataatg tgaaagatga
     2821 gagcagtttt ttaaaggatc ttttcatata cccaattccc ttattttcag atgtcccatc
     2881 aattttagat atgaaagctt taagtaaaag tgtgtatgcc tttctactgt cagaacagga
     2941 tggatgcagc ctgggtcaga tttatttaag ataaaaatca tgcagactca tcattcatat
     3001 cataggtgaa aaatgtaaaa accaaatggt ttccactaaa gccaccaaga tcttttagaa
     3061 atgtttgcac ctttggtggt ggcacaggaa aagagaagaa ttcagctgga gtgaattcta
     3121 gaagtagata tcagaaacgg ggcatgaaga acaggggaac tgggtggcat cagactccta
     3181 aagaagtgag ttaattttcc ttcccttcca ttcagattca tgccacagct ccatatcttg
     3241 agtatgtgta agaggtgagt tccttcttca gccaggggcg gtggctcatg cctttaatcc
     3301 caatgctttg ggaggccaag gtgggaggat cacttgtgcc ttggggttca aggttgcagt
     3361 gaaccatgat tgcaccactg cactccagcc tgagtgacag agcaagaccc tgtctctaaa
     3421 aatatatata aaaagtaaaa ctaaagaact tcttgcctaa acctgaatta ccgcaatttg
     3481 ctgagtgact ttgagaaaaa tcagactgtt tagttcagtc gggatgaaaa gcttgcgatt
     3541 gcttcccaca agaatgggca atagtgacgg ctgcaaggta cttttatttg ttcatgaaag
     3601 aacgacaatt tttcaaaatg taattaaaca taatagaatg ttttaaacta ctgggcactg
     3661 aaactggaag aaaaaggagg ctttattgaa cattcccctt tttcagttgg ttcaaagttc
     3721 agcactgtgg ttatcattgg tgatgccaga aaacattagt agacttagac aattgctatg
     3781 gcagtttcta aacagagctt tttctataca ctatttgcaa ctggagtgca atattgtata
     3841 ttctgtgtta aagaaataaa gtatttttat catttattaa
//
LOCUS       NM_001077711             682 bp    mRNA    linear   PRI 21-JUN-2021
DEFINITION  Homo sapiens keratin associated protein 27-1 (KRTAP27-1), mRNA.
ACCESSION   NM_001077711
VERSION     NM_001077711.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: AB096937.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000382835.2/ ENSP00000372286.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB096937.1.
            On or before Nov 23, 2006 this sequence version replaced
            XM_927093.1, XM_940978.1.
FEATURES             Location/Qualifiers
     source          1..682
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     gene            1..682
                     /gene="KRTAP27-1"
                     /note="keratin associated protein 27-1"
                     /db_xref="GeneID:643812"
                     /db_xref="HGNC:HGNC:33864"
     CDS             27..650
                     /gene="KRTAP27-1"
                     /codon_start=1
                     /product="keratin-associated protein 27-1"
                     /protein_id="NP_001071179.1"
                     /db_xref="CCDS:CCDS33532.1"
                     /db_xref="GeneID:643812"
                     /db_xref="HGNC:HGNC:33864"
                     /translation="MPHSHCHSLRSFHNAPPLSAITHGTNPITFEDRLCLPSSFHSRTC
                     FLDNFQETCNETTSCQMTNCEQDLFTDDSCVQSNCFPGVVQTTYSNSRPCERTACQSES
                     SSAGLACVSQPCQSESTQQMGFVAQSCQPASLKGNSCPPKTSKSKNFETLERASSQCQC
                     QSQNPESSSCRPLVNVAPEPQLLESSPGVEPTCCVTGGSQLPSK"
     misc_feature    576..647
                     /gene="KRTAP27-1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q3LI81.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 gaccatcttt aaggattttt agcaatatgc ctcatagcca ctgccattca ctcaggagct
       61 tccacaatgc cccaccactc tctgccatca cacatggcac taatcctata acctttgaag
      121 acagattgtg tttgcccagc agcttccata gcagaacctg tttcctggac aactttcaag
      181 aaacctgcaa tgaaaccacc agctgccaaa tgaccaattg tgaacaggac ttattcacag
      241 acgatagctg tgtgcaaagt aactgcttcc ccggagttgt ccaaactact tactccaatt
      301 ccaggccctg cgaaaggaca gcgtgccaat cagaaagttc ttcagcaggg ctggcttgtg
      361 tttctcagcc ttgccaatca gaaagcactc agcagatggg ttttgtagcc cagagctgcc
      421 aacctgcaag cctcaaggga aacagttgcc cacccaagac ttctaagtct aaaaatttcg
      481 aaactctgga acgtgcatct agccaatgtc agtgtcagtc tcagaaccct gaatccagtt
      541 cctgtagacc tctggtcaat gttgcacctg agccacaact cctggaatct tctccaggag
      601 ttgaaccaac ttgctgtgtt actggtggtt ctcaattgcc tagtaagtga agatctgtag
      661 gggagatggc ttatattctc at
//
LOCUS       NM_001078               3101 bp    mRNA    linear   PRI 19-JUN-2023
DEFINITION  Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript
            variant 1, mRNA.
ACCESSION   NM_001078
VERSION     NM_001078.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3101)
  AUTHORS   Park JY, Park HM, Kim S, Jeon KB, Lim CM, Hong JT and Yoon DY.
  TITLE     Human IL-32theta;A94V mutant attenuates monocyte-endothelial
            adhesion by suppressing the expression of ICAM-1 and VCAM-1 via
            binding to cell surface receptor integrin alphaVbeta3 and
            alphaVbeta6 in TNF-alpha-stimulated HUVECs
  JOURNAL   Front Immunol 14, 1160301 (2023)
   PUBMED   37228610
  REMARK    GeneRIF: Human IL-32theta;A94V mutant attenuates
            monocyte-endothelial adhesion by suppressing the expression of
            ICAM-1 and VCAM-1 via binding to cell surface receptor integrin
            alphaVbeta3 and alphaVbeta6 in TNF-alpha-stimulated HUVECs.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3101)
  AUTHORS   Chen J, Dai AX, Tang HL, Lu CH, Liu HX, Hou T, Lu ZJ, Kong N, Peng
            XY, Lin KX, Zheng ZD, Xu SL, Ying XF, Ji XY, Pan H, Wu J, Zeng X and
            Wei NL.
  TITLE     Increase of ALCAM and VCAM-1 in the plasma predicts the Alzheimer's
            disease
  JOURNAL   Front Immunol 13, 1097409 (2023)
   PUBMED   36685605
  REMARK    GeneRIF: Increase of ALCAM and VCAM-1 in the plasma predicts the
            Alzheimer's disease. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3101)
  AUTHORS   Xu Y, Hou H and Zhao L.
  TITLE     The role of VCAM-1 in diabetic retinopathy: A systematic review and
            meta-analysis
  JOURNAL   J Diabetes Complications 37 (1), 108380 (2023)
   PUBMED   36525905
  REMARK    GeneRIF: The role of VCAM-1 in diabetic retinopathy: A systematic
            review and meta-analysis. Review article
REFERENCE   4  (bases 1 to 3101)
  AUTHORS   VanHeyst KA, Choi SH, Kingsley DT and Huang AY.
  TITLE     Ectopic Tumor VCAM-1 Expression in Cancer Metastasis and Therapy
            Resistance
  JOURNAL   Cells 11 (23), 3922 (2022)
   PUBMED   36497180
  REMARK    GeneRIF: Ectopic Tumor VCAM-1 Expression in Cancer Metastasis and
            Therapy Resistance. Review article Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3101)
  AUTHORS   Won Jun H, Kyung Lee H, Ho Na I, Jeong Lee S, Kim K, Park G, Sook
            Kim H, Ju Son D, Kim Y, Tae Hong J and Han SB.
  TITLE     The role of CCL2, CCL7, ICAM-1, and VCAM-1 in interaction of
            endothelial cells and natural killer cells
  JOURNAL   Int Immunopharmacol 113 (Pt A), 109332 (2022)
   PUBMED   36274485
  REMARK    GeneRIF: The role of CCL2, CCL7, ICAM-1, and VCAM-1 in interaction
            of endothelial cells and natural killer cells.
REFERENCE   6  (bases 1 to 3101)
  AUTHORS   Neish AS, Williams AJ, Palmer HJ, Whitley MZ and Collins T.
  TITLE     Functional analysis of the human vascular cell adhesion molecule 1
            promoter
  JOURNAL   J Exp Med 176 (6), 1583-1593 (1992)
   PUBMED   1281211
REFERENCE   7  (bases 1 to 3101)
  AUTHORS   Pepinsky B, Hession C, Chen LL, Moy P, Burkly L, Jakubowski A, Chow
            EP, Benjamin C, Chi-Rosso G, Luhowskyj S et al.
  TITLE     Structure/function studies on vascular cell adhesion molecule-1
  JOURNAL   J Biol Chem 267 (25), 17820-17826 (1992)
   PUBMED   1381355
REFERENCE   8  (bases 1 to 3101)
  AUTHORS   Iademarco MF, McQuillan JJ, Rosen GD and Dean DC.
  TITLE     Characterization of the promoter for vascular cell adhesion
            molecule-1 (VCAM-1)
  JOURNAL   J Biol Chem 267 (23), 16323-16329 (1992)
   PUBMED   1379595
REFERENCE   9  (bases 1 to 3101)
  AUTHORS   Osborn L, Vassallo C and Benjamin CD.
  TITLE     Activated endothelium binds lymphocytes through a novel binding site
            in the alternately spliced domain of vascular cell adhesion
            molecule-1
  JOURNAL   J Exp Med 176 (1), 99-107 (1992)
   PUBMED   1377228
REFERENCE   10  (bases 1 to 3101)
  AUTHORS   Polte T, Newman W and Gopal TV.
  TITLE     Full length vascular cell adhesion molecule 1 (VCAM-1)
  JOURNAL   Nucleic Acids Res 18 (19), 5901 (1990)
   PUBMED   1699207
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: BC068490.1, AK223266.1 [ECO:0000332]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000294728.7/ ENSP00000294728.2
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB096825.1, BC017276.2 and
            BF791565.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Nov 22, 2018 this sequence version replaced NM_001078.3.
            Summary: This gene is a member of the Ig superfamily and encodes a
            cell surface sialoglycoprotein expressed by cytokine-activated
            endothelium. This type I membrane protein mediates
            leukocyte-endothelial cell adhesion and signal transduction, and
            may play a role in the development of artherosclerosis and
            rheumatoid arthritis. Three alternatively spliced transcripts
            encoding different isoforms have been described for this gene.
            [provided by RefSeq, Dec 2010].
            Transcript Variant: This variant (1) encodes the predominant,
            full-length isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3101
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.2"
     gene            1..3101
                     /gene="VCAM1"
                     /gene_synonym="CD106; INCAM-100"
                     /note="vascular cell adhesion molecule 1"
                     /db_xref="GeneID:7412"
                     /db_xref="HGNC:HGNC:12663"
                     /db_xref="MIM:192225"
     CDS             120..2339
                     /gene="VCAM1"
                     /gene_synonym="CD106; INCAM-100"
                     /note="isoform a precursor is encoded by transcript variant
                     1; CD106 antigen; vascular cell adhesion protein 1"
                     /codon_start=1
                     /product="vascular cell adhesion protein 1 isoform a
                     precursor"
                     /protein_id="NP_001069.1"
                     /db_xref="CCDS:CCDS773.1"
                     /db_xref="GeneID:7412"
                     /db_xref="HGNC:HGNC:12663"
                     /db_xref="MIM:192225"
                     /translation="MPGKMVVILGASNILWIMFAASQAFKIETTPESRYLAQIGDSVSL
                     TCSTTGCESPFFSWRTQIDSPLNGKVTNEGTTSTLTMNPVSFGNEHSYLCTATCESRKL
                     EKGIQVEIYSFPKDPEIHLSGPLEAGKPITVKCSVADVYPFDRLEIDLLKGDHLMKSQE
                     FLEDADRKSLETKSLEVTFTPVIEDIGKVLVCRAKLHIDEMDSVPTVRQAVKELQVYIS
                     PKNTVISVNPSTKLQEGGSVTMTCSSEGLPAPEIFWSKKLDNGNLQHLSGNATLTLIAM
                     RMEDSGIYVCEGVNLIGKNRKEVELIVQEKPFTVEISPGPRIAAQIGDSVMLTCSVMGC
                     ESPSFSWRTQIDSPLSGKVRSEGTNSTLTLSPVSFENEHSYLCTVTCGHKKLEKGIQVE
                     LYSFPRDPEIEMSGGLVNGSSVTVSCKVPSVYPLDRLEIELLKGETILENIEFLEDTDM
                     KSLENKSLEMTFIPTIEDTGKALVCQAKLHIDDMEFEPKQRQSTQTLYVNVAPRDTTVL
                     VSPSSILEEGSSVNMTCLSQGFPAPKILWSRQLPNGELQPLSENATLTLISTKMEDSGV
                     YLCEGINQAGRSRKEVELIIQVTPKDIKLTAFPSESVKEGDTVIISCTCGNVPETWIIL
                     KKKAETGDTVLKSIDGAYTIRKAQLKDAGVYECESKNKVGSQLRSLTLDVQGRENNKDY
                     FSPELLVLYFASSLIIPAIGMIIYFARKANMKGSYSLVEAQKSKV"
     sig_peptide     120..191
                     /gene="VCAM1"
                     /gene_synonym="CD106; INCAM-100"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     192..2336
                     /gene="VCAM1"
                     /gene_synonym="CD106; INCAM-100"
                     /product="vascular cell adhesion protein 1 isoform a"
     misc_feature    936..938
                     /gene="VCAM1"
                     /gene_synonym="CD106; INCAM-100"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P19320.1); glycosylation site"
     misc_feature    1212..1214
                     /gene="VCAM1"
                     /gene_synonym="CD106; INCAM-100"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P19320.1); glycosylation site"
     misc_feature    1368..1370
                     /gene="VCAM1"
                     /gene_synonym="CD106; INCAM-100"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P19320.1); glycosylation site"
     misc_feature    1506..1508
                     /gene="VCAM1"
                     /gene_synonym="CD106; INCAM-100"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P19320.1); glycosylation site"
     misc_feature    1710..1712
                     /gene="VCAM1"
                     /gene_synonym="CD106; INCAM-100"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot
                     (P19320.1); glycosylation site"
     misc_feature    1800..1802
                     /gene="VCAM1"
                     /gene_synonym="CD106; INCAM-100"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (P19320.1); glycosylation site"
     misc_feature    2214..2279
                     /gene="VCAM1"
                     /gene_synonym="CD106; INCAM-100"
                     /note="propagated from UniProtKB/Swiss-Prot (P19320.1);
                     transmembrane region"
     regulatory      3074..3079
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VCAM1"
                     /gene_synonym="CD106; INCAM-100"
                     /note="hexamer: AGTAAA"
     polyA_site      3101
                     /gene="VCAM1"
                     /gene_synonym="CD106; INCAM-100"
                     /note="major polyA site"
ORIGIN
        1 gcggtatctg catcgggcct cactggcttc aggagctgaa taccctccca ggcacacaca
       61 ggtgggacac aaataagggt tttggaacca ctattttctc atcacgacag caacttaaaa
      121 tgcctgggaa gatggtcgtg atccttggag cctcaaatat actttggata atgtttgcag
      181 cttctcaagc ttttaaaatc gagaccaccc cagaatctag atatcttgct cagattggtg
      241 actccgtctc attgacttgc agcaccacag gctgtgagtc cccatttttc tcttggagaa
      301 cccagataga tagtccactg aatgggaagg tgacgaatga ggggaccaca tctacgctga
      361 caatgaatcc tgttagtttt gggaacgaac actcttacct gtgcacagca acttgtgaat
      421 ctaggaaatt ggaaaaagga atccaggtgg agatctactc ttttcctaag gatccagaga
      481 ttcatttgag tggccctctg gaggctggga agccgatcac agtcaagtgt tcagttgctg
      541 atgtataccc atttgacagg ctggagatag acttactgaa aggagatcat ctcatgaaga
      601 gtcaggaatt tctggaggat gcagacagga agtccctgga aaccaagagt ttggaagtaa
      661 cctttactcc tgtcattgag gatattggaa aagttcttgt ttgccgagct aaattacaca
      721 ttgatgaaat ggattctgtg cccacagtaa ggcaggctgt aaaagaattg caagtctaca
      781 tatcacccaa gaatacagtt atttctgtga atccatccac aaagctgcaa gaaggtggct
      841 ctgtgaccat gacctgttcc agcgagggtc taccagctcc agagattttc tggagtaaga
      901 aattagataa tgggaatcta cagcaccttt ctggaaatgc aactctcacc ttaattgcta
      961 tgaggatgga agattctgga atttatgtgt gtgaaggagt taatttgatt gggaaaaaca
     1021 gaaaagaggt ggaattaatt gttcaagaga aaccatttac tgttgagatc tcccctggac
     1081 cccggattgc tgctcagatt ggagactcag tcatgttgac atgtagtgtc atgggctgtg
     1141 aatccccatc tttctcctgg agaacccaga tagacagccc tctgagcggg aaggtgagga
     1201 gtgaggggac caattccacg ctgaccctga gccctgtgag ttttgagaac gaacactctt
     1261 atctgtgcac agtgacttgt ggacataaga aactggaaaa gggaatccag gtggagctct
     1321 actcattccc tagagatcca gaaatcgaga tgagtggtgg cctcgtgaat gggagctctg
     1381 tcactgtaag ctgcaaggtt cctagcgtgt acccccttga ccggctggag attgaattac
     1441 ttaaggggga gactattctg gagaatatag agtttttgga ggatacggat atgaaatctc
     1501 tagagaacaa aagtttggaa atgaccttca tccctaccat tgaagatact ggaaaagctc
     1561 ttgtttgtca ggctaagtta catattgatg acatggaatt cgaacccaaa caaaggcaga
     1621 gtacgcaaac actttatgtc aatgttgccc ccagagatac aaccgtcttg gtcagccctt
     1681 cctccatcct ggaggaaggc agttctgtga atatgacatg cttgagccag ggctttcctg
     1741 ctccgaaaat cctgtggagc aggcagctcc ctaacgggga gctacagcct ctttctgaga
     1801 atgcaactct caccttaatt tctacaaaaa tggaagattc tggggtttat ttatgtgaag
     1861 gaattaacca ggctggaaga agcagaaagg aagtggaatt aattatccaa gttactccaa
     1921 aagacataaa acttacagct tttccttctg agagtgtcaa agaaggagac actgtcatca
     1981 tctcttgtac atgtggaaat gttccagaaa catggataat cctgaagaaa aaagcggaga
     2041 caggagacac agtactaaaa tctatagatg gcgcctatac catccgaaag gcccagttga
     2101 aggatgcggg agtatatgaa tgtgaatcta aaaacaaagt tggctcacaa ttaagaagtt
     2161 taacacttga tgttcaagga agagaaaaca acaaagacta tttttctcct gagcttctcg
     2221 tgctctattt tgcatcctcc ttaataatac ctgccattgg aatgataatt tactttgcaa
     2281 gaaaagccaa catgaagggg tcatatagtc ttgtagaagc acagaagtca aaagtgtagc
     2341 taatgcttga tatgttcaac tggagacact atttatctgt gcaaatcctt gatactgctc
     2401 atcattcctt gagaaaaaca atgagctgag aggcagactt ccctgaatgt attgaacttg
     2461 gaaagaaatg cccatctatg tcccttgctg tgagcaagaa gtcaaagtaa aacttgctgc
     2521 ctgaagaaca gtaactgcca tcaagatgag agaactggag gagttccttg atctgtatat
     2581 acaataacat aatttgtaca tatgtaaaat aaaattatgc catagcaaga ttgcttaaaa
     2641 tagcaacact ctatatttag attgttaaaa taactagtgt tgcttggact attataattt
     2701 aatgcatgtt aggaaaattt cacattaata tttgctgaca gctgaccttt gtcatctttc
     2761 ttctatttta ttccctttca caaaatttta ttcctatata gtttattgac aataatttca
     2821 ggttttgtaa agatgccggg ttttatattt ttatagacaa ataataagca aagggagcac
     2881 tgggttgact ttcaggtact aaatacctca acctatggta taatggttga ctgggtttct
     2941 ctgtatagta ctggcatggt acggagatgt ttcacgaagt ttgttcatca gactcctgtg
     3001 caactttccc aatgtggcct aaaaatgcaa cttcttttta ttttcttttg taaatgttta
     3061 ggtttttttg tatagtaaag tgataatttc tggaattaga a
//
LOCUS       NM_001078170            6770 bp    mRNA    linear   PRI 31-DEC-2022
DEFINITION  Homo sapiens RANBP2 like and GRIP domain containing 2 (RGPD2),
            transcript variant 1, mRNA.
ACCESSION   NM_001078170
VERSION     NM_001078170.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6770)
  AUTHORS   Zuo L, Zhang F, Zhang H, Zhang XY, Wang F, Li CS, Lu L, Hong J, Lu
            L, Krystal J, Deng HW and Luo X.
  TITLE     Genome-wide search for replicable risk gene regions in alcohol and
            nicotine co-dependence
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 159B (4), 437-444 (2012)
   PUBMED   22488850
REFERENCE   2  (bases 1 to 6770)
  AUTHORS   Ciccarelli FD, von Mering C, Suyama M, Harrington ED, Izaurralde E
            and Bork P.
  TITLE     Complex genomic rearrangements lead to novel primate gene function
  JOURNAL   Genome Res 15 (3), 343-351 (2005)
   PUBMED   15710750
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3661122.1, AK302429.1
            [ECO:0000332]
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
            [ECO:0006172]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000398146.5/ ENSP00000381214.3
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093616.5.
            On Feb 23, 2021 this sequence version replaced NM_001078170.2.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6770
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..6770
                     /gene="RGPD2"
                     /gene_synonym="NUP358; RANBP2L2; RGP2"
                     /note="RANBP2 like and GRIP domain containing 2"
                     /db_xref="GeneID:729857"
                     /db_xref="HGNC:HGNC:32415"
                     /db_xref="MIM:612705"
     CDS             68..5338
                     /gene="RGPD2"
                     /gene_synonym="NUP358; RANBP2L2; RGP2"
                     /note="isoform 1 is encoded by transcript variant 1; Ran
                     binding protein 2-like 2; RANBP2-like and GRIP
                     domain-containing protein 2; nucleoporin; ranBP2-like 2;
                     ran-binding protein 2-like 2"
                     /codon_start=1
                     /product="RANBP2-like and GRIP domain-containing protein 2
                     isoform 1"
                     /protein_id="NP_001071638.2"
                     /db_xref="CCDS:CCDS42710.2"
                     /db_xref="GeneID:729857"
                     /db_xref="HGNC:HGNC:32415"
                     /db_xref="MIM:612705"
                     /translation="MRRSKAYGERYLASVQGSAPSPGKKLRGFYFAKLYYEAKEYDLAK
                     KYVCTYLSVQERDPRAHRFLGLLYELEENTEKAVECYRRSLELNPPQKDLVLKIAELLC
                     KNDVTDGRAKYWVERAAKLFPGSPAIYKLKEHLLDCEGEDGWNKLFDWIQSELYVRPDD
                     VHMNIRLVELYRSNKRLKDAVARCHEAERNIALRSSLEWNSCVVQTLKEYLESLQCLES
                     DKSDWRATNTDLLLAYANLMLLTLSTRDVQESRELLESFDSALQSAKSSLGGNDELSAT
                     FLEMKGHFYMHAGSLLLKMGQHGNNVQWQALSELAALCYVIAFQVPRPKIKLIKGEAGQ
                     NLLEMMACDRLSQSGHMLLNLSRGKQDFLKEVVETFANKSGQSVLYNALFSSQSSKDTS
                     FLGSDDIGNIDVQEPELEDLARYDVGAIQAHNGSLQHLTWLGLQWNSLPALPGIRKWLK
                     QLFHHLPQETSRLETNAPESICILDLEVFLLGVVYTSHLQLKEKCNSHHSSYQPLCLPL
                     PVCKRLCTERQKSWWDAVCTLIHRKAVPGNSAELRLVVQHEINTLRAQEKHGLQPALLV
                     HWAKCLQKMGRGLNSSYDQQEYIGRSVHYWKKVLPLLKIIKKNSIPEPIDPLFKHFHSV
                     DIQASEIVEYEEDAHITFAILDAVHGNIEDAVTAFESIKSVVSYWNLALIFHRKAEDIE
                     NDAVFPEEQEECKNYLRKTRDYLIKIIDDSDSNLSVVKKLPVPLESVKEMLKSVMQELE
                     DYSEGGPLYKNGSLRNADSEIKHSTPSPTKYSLSPSKSYKYSPKTPPRWAEDQNSLRKM
                     ICQEVKAITKLNSSKSASRHRWPTENYGPDSVPDGYQGSQTFHGAPLTVATTGPSVYYS
                     QSPAYNSQYLLRPAANVTPTKGSSNTEFKSTKEGFSIAVSADGFKFGISEPGNQEKKSE
                     KPLENDTGFQAQDISGQKNGRGVIFGQTSSTFTFADVAKSTSGEGFQFGKKDPNFKGFS
                     GAGEKLFSSQCGKMANKANTSGDFEKDDDACKTEDSDDIHFEPVVQMPEKVELVTGEEG
                     EKVLYSQGVKLFRFDAEISQWKERGLGNLKILKNEVNGKPRMLMRRDQVLKVCANHWIT
                     TTMNLKPLSGSDRAWMWLASDFSDGDAKLERLAAQFKTPELAEEFKQKFEECQRLLLDI
                     PLQTPHKLVDTGRAAKLIQRAEEMKSGLKDFKTFLTNDQTKVTEEENKGSGTGAAGASD
                     TTIKPNPENTGPTLEWDNYDLREDALDDNVSSSSVHDSPLASSPVRKNIFRFDESTTGF
                     NFSFKSALSLSKSPAKLNQSGTSVGTDEESDVTQEEERDGQYFEPVVPLPDLVEVSSGE
                     ENEQVVFSHMAELYRYDKDVGQWKERGIGDIKILQNYDNKQVRIVMRRDQVLKLCANHR
                     ITPDMSLQNMKGTERVWVWTACDFADGERKVEHLAVRFKLQDVADSFKKIFDEAKTAQE
                     KDSLITPHVSRSSTPRESPCGKIAVAVLEETTRERTDVIQGDDVADAASEVEVSSTSET
                     TTKAVVSPPKFVFGSESVKRIFSSEKSNPFAFGNSSATGSLFGFSFNAPLKSNDSETSS
                     VAQSGSESKVEPKKCELSKNSDIEQSSDSKVKNLSASFPMEESSINYTFKTPEKEPPLW
                     HAEFTKEELVQKLSSTTKSADQLNGLLRETEATSAVLMEQIKLLKSEIRRLERNQEESA
                     ANVEHLKNVLLQFIFLKPGSERESLLPVINTMLQLSPEEKGKLAAVAQGLQETSIPKKK
                     "
     misc_feature    128..130
                     /gene="RGPD2"
                     /gene_synonym="NUP358; RANBP2L2; RGP2"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q99666; propagated from
                     UniProtKB/Swiss-Prot (P0DJD1.1); phosphorylation site"
     misc_feature    242..343
                     /gene="RGPD2"
                     /gene_synonym="NUP358; RANBP2L2; RGP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DJD1.1);
                     Region: TPR 1"
     misc_feature    1814..1915
                     /gene="RGPD2"
                     /gene_synonym="NUP358; RANBP2L2; RGP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DJD1.1);
                     Region: TPR 2"
     misc_feature    2006..2107
                     /gene="RGPD2"
                     /gene_synonym="NUP358; RANBP2L2; RGP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DJD1.1);
                     Region: TPR 3"
     misc_feature    2342..2479
                     /gene="RGPD2"
                     /gene_synonym="NUP358; RANBP2L2; RGP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DJD1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3683..3790
                     /gene="RGPD2"
                     /gene_synonym="NUP358; RANBP2L2; RGP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DJD1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3962..4039
                     /gene="RGPD2"
                     /gene_synonym="NUP358; RANBP2L2; RGP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DJD1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    4784..4909
                     /gene="RGPD2"
                     /gene_synonym="NUP358; RANBP2L2; RGP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P0DJD1.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
ORIGIN
        1 ggaattggcg actgctgcgg ggctgagcgc tggtttcacg cgtctcggga gccaggttgg
       61 cggtgcgatg aggcgcagca aagcctacgg ggagcggtac ctcgcctcgg tgcagggctc
      121 cgccccgtcg cctggaaaga agttgagagg attctatttt gcaaagctgt attatgaagc
      181 taaagaatat gatcttgcta aaaaatacgt atgtacttac cttagtgtgc aagagaggga
      241 tcccagagct cacagatttc tgggtcttct ttatgaattg gaagaaaaca cagagaaagc
      301 cgttgaatgt tacaggcgtt cactggaatt aaacccacca caaaaagatc ttgtgttgaa
      361 gattgcagaa ttgctttgta aaaatgatgt tactgatgga agagcaaaat actgggttga
      421 aagggcagcg aaacttttcc caggaagtcc tgcaatttat aaactaaagg aacatcttct
      481 agattgtgaa ggtgaagatg gatggaataa actttttgac tggattcagt cagaacttta
      541 tgtaagacct gatgacgtcc atatgaacat ccggctagtg gagttgtatc gctcaaataa
      601 aagattgaag gatgctgtgg cccgctgcca tgaggcagag aggaacatag ctttgcgttc
      661 aagtttagag tggaattcgt gtgttgtaca gacccttaag gaatatctgg agtctttaca
      721 gtgtttggag tctgataaaa gtgactggcg agcaaccaat acagacttac tgctggccta
      781 tgctaatctt atgcttctta cgctttccac tagagatgtg caggaaagta gagaattact
      841 ggaaagtttt gatagtgctc ttcagtctgc aaaatcttct ttgggtggaa atgatgaact
      901 gtcagctact ttcttagaaa tgaaaggaca tttctacatg catgctggtt ctctgctctt
      961 gaagatgggt cagcatggta ataatgttca atggcaagct ctttctgagc tggctgcatt
     1021 gtgctatgtc atagcatttc aggttccaag accaaagatt aaattaataa aaggtgaagc
     1081 tggacaaaat ctgctggaaa tgatggcctg tgaccgactg agccaatcag ggcatatgtt
     1141 gctaaactta agtcgtggca agcaagattt tttaaaagag gttgttgaaa cttttgccaa
     1201 caaaagcggg cagtctgtgt tatataatgc tctgttttct agtcagtcat ctaaggatac
     1261 atcttttctt ggtagcgatg atattggaaa cattgatgta caagaaccag agcttgaaga
     1321 tttggctaga tacgatgttg gtgctattca agcacataat ggtagtcttc agcaccttac
     1381 ttggcttggc ttacagtgga attcattgcc tgctttacct ggaatccgaa aatggctaaa
     1441 acagcttttc catcatttgc cccaggaaac ctcaaggctt gaaacaaatg cacctgaatc
     1501 aatatgtatt ttagatcttg aagtatttct ccttggagta gtatatacca gccacttaca
     1561 attaaaggag aaatgtaatt ctcaccacag ctcctatcag ccgttatgcc tgccccttcc
     1621 tgtgtgtaaa cggctttgta cagagagaca aaaatcttgg tgggatgcgg tttgtactct
     1681 gattcacaga aaagcagtac ctggaaactc agcagaattg agacttgtag ttcagcatga
     1741 aataaacact ctaagagccc aggaaaaaca tggccttcaa cctgctctgc ttgtacattg
     1801 ggcaaaatgc cttcagaaaa tgggcagggg tcttaattct tcttatgatc aacaagaata
     1861 catagggaga agtgttcatt attggaagaa agttttgcca ttgttgaaga taataaagaa
     1921 gaacagtatt cctgaaccta ttgatcctct gtttaaacat tttcatagtg tagacattca
     1981 ggcatcagaa attgttgagt atgaagaaga tgcacacata acttttgcta tattggatgc
     2041 agtacatgga aatatagaag atgctgtgac tgcttttgaa tctataaaaa gtgttgtttc
     2101 ttattggaat cttgcactga tttttcacag gaaagcagaa gacattgaaa atgatgccgt
     2161 ttttcctgaa gaacaagaag aatgcaaaaa ttatctgaga aagaccaggg actacctaat
     2221 aaagattata gatgacagtg attcaaatct ttcagtggtc aagaaattgc ctgtgcccct
     2281 ggagtctgta aaagagatgc ttaagtcagt catgcaggaa ctcgaagact atagtgaagg
     2341 aggtcctctc tataaaaatg gttctttgcg aaatgcagat tcagaaataa aacattctac
     2401 accatctcct accaaatatt cactatcacc aagtaaaagt tacaagtatt ctcccaaaac
     2461 accacctcga tgggcagaag atcagaattc tttacggaaa atgatttgcc aagaagtaaa
     2521 ggccattacg aaactaaata gcagtaagtc agcatcccgt catcgttggc ccacagagaa
     2581 ttatggacca gactcggtgc ctgatggata tcaggggtca cagacatttc atggggctcc
     2641 actaacagtt gcaactactg gcccttcagt atattatagt cagtcaccag catataattc
     2701 ccagtatctt ctcagaccag cagctaatgt tactcccaca aagggttctt ctaatacaga
     2761 atttaagtca accaaagaag gattttccat cgctgtgtct gctgatggat ttaaatttgg
     2821 catttcggaa ccaggaaatc aagaaaagaa aagtgaaaag cctcttgaaa atgatactgg
     2881 cttccaggct caggatatta gtggccagaa gaatggccgt ggtgtgattt ttggccaaac
     2941 aagtagcact tttacatttg cagatgttgc aaaatcaact tcaggagaag gatttcagtt
     3001 tggcaaaaaa gaccccaatt tcaagggatt ttcaggtgct ggagaaaaat tattctcatc
     3061 acaatgcggt aaaatggcca ataaagcaaa cacttccggt gactttgaga aagatgatga
     3121 tgcctgtaag actgaggaca gcgatgacat ccattttgaa ccagtagttc aaatgcctga
     3181 aaaagtagaa cttgtaacag gagaagaagg tgaaaaagtt ctgtattcac agggggtaaa
     3241 actatttaga tttgatgctg agataagtca gtggaaagaa aggggcttgg ggaacttaaa
     3301 aattctcaaa aatgaggtca atggcaaacc aagaatgctg atgcgaagag accaagtact
     3361 aaaagtgtgt gctaatcatt ggataacaac tacaatgaac ctgaagcccc tctctggatc
     3421 agatagagca tggatgtggt tagccagtga tttctctgat ggtgatgcca aactagagcg
     3481 gttggcagca caatttaaaa caccagagct ggctgaagaa ttcaagcaga aatttgagga
     3541 atgccagcgg cttctgttag acataccact tcaaactccc cataaacttg tagatactgg
     3601 cagagctgcc aagctaatac agagagctga agaaatgaag agtggactga aagatttcaa
     3661 aacgtttttg acaaatgatc aaacaaaagt cactgaggaa gaaaataagg gttcaggtac
     3721 aggtgcagcc ggtgcctcag acacaacaat aaaacccaat cctgaaaaca ctgggcccac
     3781 attagaatgg gataactatg atttaaggga agatgctttg gatgataatg ttagtagtag
     3841 ctcagtacat gattctccgt tggcaagtag ccctgtgaga aaaaatattt tccgctttga
     3901 tgagtcaaca acaggattta acttcagttt taaatctgct ttgagtctat ctaagtctcc
     3961 tgccaagttg aatcagagtg ggacttcagt tggcactgat gaagaatctg atgttactca
     4021 agaagaagag agagatggac agtactttga acctgttgtt cctttacctg atctagttga
     4081 agtatccagt ggtgaggaaa atgaacaagt tgtttttagt cacatggcag aactctacag
     4141 atatgataaa gatgttggtc aatggaaaga aaggggcatt ggtgatataa agattttaca
     4201 gaattatgat aataagcaag ttcgtatagt gatgagaagg gaccaagtat taaaactttg
     4261 tgccaatcac agaataactc cagacatgag tttgcaaaat atgaaaggga cagaaagagt
     4321 atgggtgtgg actgcatgtg attttgcaga tggagaaaga aaagtagagc atttagctgt
     4381 tcgttttaaa ctacaggatg ttgcagactc atttaagaaa atttttgatg aagcaaaaac
     4441 agcccaggaa aaagattctt tgataacacc tcatgtttct cggtcaagca ctcccagaga
     4501 gtcaccatgt ggcaaaattg ctgtagctgt attagaagaa accacaagag agaggacaga
     4561 tgttattcag ggtgatgatg tagcagatgc agcttcagaa gttgaagtgt ctagcacatc
     4621 tgaaacaaca acaaaagcag tggtttctcc tccaaagttt gtatttggtt cagagtctgt
     4681 taaaagaatt tttagtagtg aaaaatcaaa cccatttgca tttggcaaca gttctgccac
     4741 tgggtctttg tttggattta gttttaatgc acctttgaaa agtaacgata gtgaaactag
     4801 ttcagtagcc cagagtggat ctgaaagcaa agtggaacct aaaaaatgtg aactgtcaaa
     4861 gaactctgat atcgaacagt cttcagatag caaagtcaaa aatctctctg cttcctttcc
     4921 aatggaagaa tcttcaatca actacacatt taaaacacca gaaaaggagc ctccattatg
     4981 gcatgctgaa tttaccaaag aagaattggt tcagaagctc agttccacca caaaaagtgc
     5041 agatcagtta aacggcctgc ttcgggaaac agaggcaacc agtgcagtcc ttatggagca
     5101 aattaagctt ctcaaaagtg aaataagaag attggaaagg aatcaagagg agtctgcagc
     5161 taacgtggaa cacttgaaga acgtcttgct gcagttcatt ttcttgaagc caggtagtga
     5221 gagagagagc cttcttcctg ttataaatac gatgttgcag ctcagccctg aagaaaaggg
     5281 aaaacttgct gcggttgctc aaggtcttca agaaacctcc atacccaaga aaaaatagaa
     5341 agcaaccatg ttctactatg gtgccaaaaa tagttgaaca tcgacatcaa aaagattctt
     5401 tctgtctgct tattcacata ttctggtttg aattaaaagt gatgaaatta tcctaaatac
     5461 agttggccct ctgtatccat gggttccaca tccacaaatt caaccaactg tggatggaaa
     5521 agacttgaaa aagatgagag aaaataacaa tatgacaata aaacataata caaataaaaa
     5581 caatacagta taacaacgat tacatagcat ttacattata ttagggattg cacaagagaa
     5641 ggtatgtagg ttatatgcaa atactgcacc attttacata agggacttga gaagcatgga
     5701 ttttggtagc cacaggggtc ctggaaccaa tccctcacag acacagacgg acactttaca
     5761 gtagatgaac acaaagatga aaggaaaagt ctgacctagg tctgcgggga gaagtggaac
     5821 tccatttttg acaggtgatg ccattttttg ttttggacat cgtccctctg tagttctttc
     5881 cattcccagt cttgcactct gaaagataca ctgaaggaaa gtccacacag tggtcaaagt
     5941 ctttcacaag acaccacgtg aaggtctgca cagcacagtc acattgagaa aaagatctca
     6001 tgcaccagac cccctgtttc tgctttctaa aagatcatct tttgcacctg caaaaaggct
     6061 gcagtaaact gggccattcc atactttgat tcatgtattc aaatgctact tatgagctct
     6121 ctgtgtattg agccccacca ggatgctggg gacacacggg gcacagtgca gccagaggct
     6181 tggccatcat agagctcaca ttctagtgga atcagacagg ggggttacag gaaatattca
     6241 agtaaacaat ataaaatgag atcacttaat gatgatacat ggatacatgt tacatacatg
     6301 atgagacaga gtaagagaat ggggaaaggg tttttagatg ggggaatggc aggcttttcc
     6361 gaggctgaaa gagatccaac ccacttctat ttcttcaggc tcccagtgat atgaaaaagt
     6421 gccaaacagg actataaaat tgtggtctac tgtaaatggt ttgcagtaaa agttctcaac
     6481 cagcttccac tcaaccaact caccagttag acaatgggcc ctctcctgtg tttaaaacag
     6541 tccggtgccc acctgggtcc acatgcagct ggcaggtgtt tgctagtgtg cccacccatg
     6601 tctgttcccc ccacgtgagt tatgtgctta caacgagtcg tttctttgca ttttccaact
     6661 ttcttacatt tatatttaat taaagatgat ctaaactgag aaatgaatgt gaaaagaaac
     6721 aaagctcttt tttgtttggt ttttaactaa attaaatgtt tttaacaagt
//
LOCUS       NM_001078171            1192 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens retrotransposon Gag like 8C (RTL8C), mRNA.
ACCESSION   NM_001078171
VERSION     NM_001078171.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1192)
  AUTHORS   Mohan HM, Trzeciakiewicz H, Pithadia A, Crowley EV, Pacitto R,
            Safren N, Trotter B, Zhang C, Zhou X, Zhang Y, Basrur V, Paulson HL
            and Sharkey LM.
  TITLE     RTL8 promotes nuclear localization of UBQLN2 to subnuclear
            compartments associated with protein quality control
  JOURNAL   Cell Mol Life Sci 79 (3), 176 (2022)
   PUBMED   35247097
  REMARK    GeneRIF: RTL8 promotes nuclear localization of UBQLN2 to subnuclear
            compartments associated with protein quality control. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1192)
  AUTHORS   Mohammadi Z, Azad M, Foroughi F, Khojastehpour S, Gheibi N,
            Samiee-Rad F, Maali A and Ahmadi MH.
  TITLE     Evaluation of expression level and methylation profile of CXX1 gene
            in breast cancer tissue blocks
  JOURNAL   J Cancer Res Ther 17 (6), 1328-1334 (2021)
   PUBMED   34916361
  REMARK    GeneRIF: Evaluation of expression level and methylation profile of
            CXX1 gene in breast cancer tissue blocks.
REFERENCE   3  (bases 1 to 1192)
  AUTHORS   Franz M, Morchen B, Degenhart C, Gulden D, Shkura O, Wolters D, Koch
            U, Klebl B, Stoll R, Helfrich I and Scherkenbeck J.
  TITLE     Sequence-Selective Covalent CaaX-Box Receptors Prevent Farnesylation
            of Oncogenic Ras Proteins and Impact MAPK/PI3 K Signaling
  JOURNAL   ChemMedChem 16 (16), 2504-2514 (2021)
   PUBMED   33899342
  REMARK    GeneRIF: Sequence-Selective Covalent CaaX-Box Receptors Prevent
            Farnesylation of Oncogenic Ras Proteins and Impact MAPK/PI3 K
            Signaling.
REFERENCE   4  (bases 1 to 1192)
  AUTHORS   Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N,
            Smolyar A, Hill DE, Barabasi AL, Vidal M and Zoghbi HY.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   5  (bases 1 to 1192)
  AUTHORS   Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer
            M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL,
            Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME,
            Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R,
            Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson
            A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler
            DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S,
            Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker
            GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O,
            Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman
            AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P,
            Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel
            L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z,
            Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S,
            Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS,
            Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O,
            Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H,
            Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T,
            Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis
            F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner
            G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R,
            Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S,
            Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume
            J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de
            Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis
            P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK,
            Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM,
            Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J,
            Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl
            P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S,
            Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN,
            Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S,
            Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey
            Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG,
            Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD,
            Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann
            RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K,
            Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M,
            Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry
            GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey
            DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L,
            Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S,
            Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A,
            Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM,
            Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R,
            Hubbard T, Gibbs RA, Beck S, Rogers J and Bentley DR.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   6  (bases 1 to 1192)
  AUTHORS   Brandt J, Schrauth S, Veith AM, Froschauer A, Haneke T, Schultheis
            C, Gessler M, Leimeister C and Volff JN.
  TITLE     Transposable elements as a source of genetic innovation: expression
            and evolution of a family of retrotransposon-derived neogenes in
            mammals
  JOURNAL   Gene 345 (1), 101-111 (2005)
   PUBMED   15716091
REFERENCE   7  (bases 1 to 1192)
  AUTHORS   Brandt J, Veith AM and Volff JN.
  TITLE     A family of neofunctionalized Ty3/gypsy retrotransposon genes in
            mammalian genomes
  JOURNAL   Cytogenet Genome Res 110 (1-4), 307-317 (2005)
   PUBMED   16093683
REFERENCE   8  (bases 1 to 1192)
  AUTHORS   Frattini A, Faranda S, Zucchi I and Vezzoni P.
  TITLE     A low-copy repeat in Xq26 represents a novel putatively prenylated
            protein gene (CXX1) and its pseudogenes (DXS9914, DXS9915, and
            DXS9916)
  JOURNAL   Genomics 46 (1), 167-169 (1997)
   PUBMED   9403077
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: SRR5189652.194787.1, SRR5189655.66695.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000257013.9/ ENSP00000257013.7
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CX784259.1, BC002385.2 and CD367165.1.
            On May 17, 2019 this sequence version replaced NM_001078171.1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1192
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     gene            1..1192
                     /gene="RTL8C"
                     /gene_synonym="CXX1; FAM127A; Mar8; MAR8C; Mart8; MART8C;
                     SIRH5"
                     /note="retrotransposon Gag like 8C"
                     /db_xref="GeneID:8933"
                     /db_xref="HGNC:HGNC:2569"
                     /db_xref="MIM:300213"
     misc_feature    3..5
                     /gene="RTL8C"
                     /gene_synonym="CXX1; FAM127A; Mar8; MAR8C; Mart8; MART8C;
                     SIRH5"
                     /note="upstream in-frame stop codon"
     CDS             30..371
                     /gene="RTL8C"
                     /gene_synonym="CXX1; FAM127A; Mar8; MAR8C; Mart8; MART8C;
                     SIRH5"
                     /note="CAAX box 1; mammalian retrotransposon derived
                     protein 8C; protein FAM127A; Sushi-Ichi retrotransposon
                     homolog 5; mammalian retrotransposon-derived 8C; family
                     with sequence similarity 127 member A; retrotransposon
                     Gag-like protein 8B"
                     /codon_start=1
                     /product="retrotransposon Gag-like protein 8C"
                     /protein_id="NP_001071639.1"
                     /db_xref="CCDS:CCDS43997.1"
                     /db_xref="GeneID:8933"
                     /db_xref="HGNC:HGNC:2569"
                     /db_xref="MIM:300213"
                     /translation="MDGRVQLIKALLALPIRPATRRWRNPIPFPETFDGDTDRLPEFIV
                     QTGSYMFVDENTFSSDALKVTFLITRLTGPALQWVIPYIKKESPLLNDYRGFLAEMKRV
                     FGWEEDEDF"
     regulatory      1164..1169
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RTL8C"
                     /gene_synonym="CXX1; FAM127A; Mar8; MAR8C; Mart8; MART8C;
                     SIRH5"
                     /note="hexamer: AATAAA"
     polyA_site      1192
                     /gene="RTL8C"
                     /gene_synonym="CXX1; FAM127A; Mar8; MAR8C; Mart8; MART8C;
                     SIRH5"
                     /note="major polyA site"
ORIGIN
        1 attgacgtcc agcgaagcga ggagcagcga tggacggtcg ggtgcagctg ataaaggccc
       61 tcctggcctt gccgatccgg cctgcgacgc gtcgctggag gaacccgatt ccctttcccg
      121 agacgtttga cggcgatacc gaccgactcc cggagttcat cgtgcagacg ggctcctaca
      181 tgttcgtgga cgagaacacg ttctccagcg acgccctgaa ggtgacgttc ctcatcaccc
      241 gcctcacagg gcccgccctg cagtgggtga tcccctacat caagaaggag agccccctcc
      301 tcaatgatta ccggggcttt ctggccgaga tgaagcgagt ctttggatgg gaggaggacg
      361 aggacttcta ggccgggaga ccctcgggcc tgggggcggg tgctctgggg agggtccgct
      421 gtgttactgg ccgccgccag ggtcgccacc ggcgccctcc ctccgcgcct ccctccccct
      481 cgagccgccg cgatgtcccc tgcgctcctg ttccctcccg cgtagtgctt gcctttgttc
      541 caggaatagc gctccaggct cctgctgccg cccctgggcc tcactctgga gcgagccgcc
      601 gccctctcct tccagccagc cagcccctcc catgtacatt tggacgctgt cctgcgctcc
      661 agctgcaagc tgggctcctg ttacacactg gacagaccac ccactgccgc cgctgccaag
      721 ccctctcctc cccaccagac tgccagacga ctacatcatt ctgcccacag acctgcgctg
      781 ccacagccat cgccatccat cgcatcccac cgacagactg ctgctcctag tgatctggac
      841 tcacctcgga ggtatctggg ctggccacag tccctggaca gtgatccaga cagctggccg
      901 ccccccaagg gatctgtcac cttcagcgag acctatttcc tccccacccc cagaaacctc
      961 ttgtgttctt gcctaggccc aggtgttcct ggcagccaaa tcgagtctct cattttctct
     1021 tgtggaccag ttagttttgc ccataacgca gtattctgag tttgcaactg tctctctgat
     1081 gtgtgccttt tgttcaacac agtaacccct gcattctgct ctgctctaat acactacctg
     1141 gagaaagtct tttccttatt ttcaataaat gtcagacatt attgaaaaga aa
//
LOCUS       NM_001078172            1204 bp    mRNA    linear   PRI 29-DEC-2022
DEFINITION  Homo sapiens retrotransposon Gag like 8A (RTL8A), transcript variant
            1, mRNA.
ACCESSION   NM_001078172
VERSION     NM_001078172.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1204)
  AUTHORS   Mohan HM, Trzeciakiewicz H, Pithadia A, Crowley EV, Pacitto R,
            Safren N, Trotter B, Zhang C, Zhou X, Zhang Y, Basrur V, Paulson HL
            and Sharkey LM.
  TITLE     RTL8 promotes nuclear localization of UBQLN2 to subnuclear
            compartments associated with protein quality control
  JOURNAL   Cell Mol Life Sci 79 (3), 176 (2022)
   PUBMED   35247097
  REMARK    GeneRIF: RTL8 promotes nuclear localization of UBQLN2 to subnuclear
            compartments associated with protein quality control. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 1204)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1204)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 1204)
  AUTHORS   Brandt J, Schrauth S, Veith AM, Froschauer A, Haneke T, Schultheis
            C, Gessler M, Leimeister C and Volff JN.
  TITLE     Transposable elements as a source of genetic innovation: expression
            and evolution of a family of retrotransposon-derived neogenes in
            mammals
  JOURNAL   Gene 345 (1), 101-111 (2005)
   PUBMED   15716091
REFERENCE   5  (bases 1 to 1204)
  AUTHORS   Brandt J, Veith AM and Volff JN.
  TITLE     A family of neofunctionalized Ty3/gypsy retrotransposon genes in
            mammalian genomes
  JOURNAL   Cytogenet Genome Res 110 (1-4), 307-317 (2005)
   PUBMED   16093683
REFERENCE   6  (bases 1 to 1204)
  AUTHORS   Frattini A, Faranda S, Zucchi I and Vezzoni P.
  TITLE     A low-copy repeat in Xq26 represents a novel putatively prenylated
            protein gene (CXX1) and its pseudogenes (DXS9914, DXS9915, and
            DXS9916)
  JOURNAL   Genomics 46 (1), 167-169 (1997)
   PUBMED   9403077
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: BC000393.2, AL117556.1 [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000370775.3/ ENSP00000375267.1
            RefSeq Select criteria :: based on manual assertion, conservation,
            longest protein
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL136169.6.
            On Jun 16, 2020 this sequence version replaced NM_001078172.1.
            Transcript Variant: This variant (1) is intronless and encodes the
            longer isoform (1).
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1204
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     gene            1..1204
                     /gene="RTL8A"
                     /gene_synonym="CXX1b; FAM127B; MAR8A; SIRH6"
                     /note="retrotransposon Gag like 8A"
                     /db_xref="GeneID:26071"
                     /db_xref="HGNC:HGNC:24514"
     CDS             28..369
                     /gene="RTL8A"
                     /gene_synonym="CXX1b; FAM127B; MAR8A; SIRH6"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mammalian retrotransposon derived protein 8A; protein
                     FAM127B; Sushi-Ichi retrotransposon homolog 6; family with
                     sequence similarity 127 member B; mammalian
                     retrotransposon-derived 8A; retrotransposon Gag-like
                     protein 8A"
                     /codon_start=1
                     /product="retrotransposon Gag-like protein 8A isoform 1"
                     /protein_id="NP_001071640.1"
                     /db_xref="CCDS:CCDS43998.1"
                     /db_xref="GeneID:26071"
                     /db_xref="HGNC:HGNC:24514"
                     /translation="MDGRVQLMKALLAGPLRPAARRWRNPIPFPETFDGDTDRLPEFIV
                     QTSSYMFVDENTFSNDALKVTFLITRLTGPALQWVIPYIRKESPLLNDYRGFLAEMKRV
                     FGWEEDEDF"
     regulatory      1176..1181
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RTL8A"
                     /gene_synonym="CXX1b; FAM127B; MAR8A; SIRH6"
                     /note="hexamer: AATAAA"
     polyA_site      1204
                     /gene="RTL8A"
                     /gene_synonym="CXX1b; FAM127B; MAR8A; SIRH6"
                     /note="major polyA site"
ORIGIN
        1 gaaactccgc ggagcgcgcg cggcacgatg gacggtcggg tgcagctgat gaaggccctc
       61 ctggccgggc ccctccggcc cgcggcgcgt cgctggagga acccgattcc ctttcccgag
      121 acgtttgacg gagataccga ccgactcccg gagttcatcg tgcagacgag ctcctacatg
      181 ttcgtggacg agaacacgtt ctccaacgac gccctgaagg tgacgttcct catcacccgc
      241 ctcacggggc cagccctgca gtgggtgatc ccctacatca ggaaggagag ccccctgctc
      301 aatgattacc ggggcttcct ggccgagatg aagcgggtct ttggatggga ggaggacgag
      361 gacttctagg ccgggagacc cttgggcctg ggggcgggtg ctctgggaag agttcgctgt
      421 gccagtggcc accgctaggg tctccacagg cgccctccct ccgcgcctcc ctccccctcg
      481 agccgccgcg atgtcccctg cgctcctgtc ccctcccgcg tagtgcttgc ctttgttcca
      541 ggaatagcgc tccaggctcc tgctgcagct cctgggccgc actctagagc gcgctgcctc
      601 cgccctcttt tgccagccca gcccctccat gcacatttgg acgctgtcct gcacttcagg
      661 tgcaagctgg gctcctgtta catactggac agaccaccca cagccgctgc tgccaaccca
      721 cctccactcc tccagactgc cagccaacta catcattctg cccacagacc tacgctacca
      781 ctgccatcgc catccaccgc atctcaccaa cagactgtgg ctcctagtga tgtggactca
      841 cctcggaggt atccgagctg gacacagccc ctggacagtg atccagacag ctggccgtcc
      901 cccaaggagc ctgtcacctt cagcgagacc catttcctcc ccatccccag agacctcttg
      961 tgttcctgcc acatagctgc cagggcttaa gtgtgcctgg caaccaaatc gaatctctca
     1021 ttttctcctg tggaccagtt agttttgcct agaatcctgt tttcttctga atttgcagct
     1081 gtctctctga tgggtgcctt ttgttcaaca cagtaagccc tgctcccttc cctgctctaa
     1141 tacactacct gtacaaaggt tttttcctta tttttaataa atgtcagaca ctattaaata
     1201 gaaa
//
LOCUS       NM_001078173            2030 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens retrotransposon Gag like 8B (RTL8B), mRNA.
ACCESSION   NM_001078173
VERSION     NM_001078173.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2030)
  AUTHORS   Mohan HM, Trzeciakiewicz H, Pithadia A, Crowley EV, Pacitto R,
            Safren N, Trotter B, Zhang C, Zhou X, Zhang Y, Basrur V, Paulson HL
            and Sharkey LM.
  TITLE     RTL8 promotes nuclear localization of UBQLN2 to subnuclear
            compartments associated with protein quality control
  JOURNAL   Cell Mol Life Sci 79 (3), 176 (2022)
   PUBMED   35247097
  REMARK    GeneRIF: RTL8 promotes nuclear localization of UBQLN2 to subnuclear
            compartments associated with protein quality control. Publication
            Status: Online-Only
REFERENCE   2  (bases 1 to 2030)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2030)
  AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
            Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
            Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
            BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
            Harper JW.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 2030)
  AUTHORS   Brandt J, Schrauth S, Veith AM, Froschauer A, Haneke T, Schultheis
            C, Gessler M, Leimeister C and Volff JN.
  TITLE     Transposable elements as a source of genetic innovation: expression
            and evolution of a family of retrotransposon-derived neogenes in
            mammals
  JOURNAL   Gene 345 (1), 101-111 (2005)
   PUBMED   15716091
REFERENCE   5  (bases 1 to 2030)
  AUTHORS   Brandt J, Veith AM and Volff JN.
  TITLE     A family of neofunctionalized Ty3/gypsy retrotransposon genes in
            mammalian genomes
  JOURNAL   Cytogenet Genome Res 110 (1-4), 307-317 (2005)
   PUBMED   16093683
REFERENCE   6  (bases 1 to 2030)
  AUTHORS   Frattini A, Faranda S, Zucchi I and Vezzoni P.
  TITLE     A low-copy repeat in Xq26 represents a novel putatively prenylated
            protein gene (CXX1) and its pseudogenes (DXS9914, DXS9915, and
            DXS9916)
  JOURNAL   Genomics 46 (1), 167-169 (1997)
   PUBMED   9403077
COMMENT     ##Evidence-Data-START##
            Transcript is intronless :: SRR1660803.153953.1, SRR1803617.37046.1
            [ECO:0000345]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000391440.3/ ENSP00000375268.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL136169.6, DB490903.2, BC113720.1 and BC048268.1.
            On May 17, 2019 this sequence version replaced NM_001078173.1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2030
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     gene            1..2030
                     /gene="RTL8B"
                     /gene_synonym="CXX1c; FAM127C; MAR8B; SIRH4"
                     /note="retrotransposon Gag like 8B"
                     /db_xref="GeneID:441518"
                     /db_xref="HGNC:HGNC:33156"
     misc_feature    57..59
                     /gene="RTL8B"
                     /gene_synonym="CXX1c; FAM127C; MAR8B; SIRH4"
                     /note="upstream in-frame stop codon"
     CDS             84..425
                     /gene="RTL8B"
                     /gene_synonym="CXX1c; FAM127C; MAR8B; SIRH4"
                     /note="mammalian retrotransposon derived protein 8B;
                     protein FAM127C; Sushi-Ichi retrotransposon homolog 1;
                     mammalian retrotransposon-derived 2; family with sequence
                     similarity 127 member C"
                     /codon_start=1
                     /product="retrotransposon Gag-like protein 8B"
                     /protein_id="NP_001071641.1"
                     /db_xref="CCDS:CCDS43996.1"
                     /db_xref="GeneID:441518"
                     /db_xref="HGNC:HGNC:33156"
                     /translation="MEGRVQLMKALLARPLRPAARRWRNPIPFPETFDGDTDRLPEFIV
                     QTSSYMFVDENTFSNDALKVTFLITRLTGPALQWVIPYIKKESPLLSDYRGFLAEMKRV
                     FGWEEDEDF"
     regulatory      1231..1236
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RTL8B"
                     /gene_synonym="CXX1c; FAM127C; MAR8B; SIRH4"
                     /note="hexamer: AATAAA"
     regulatory      1259..1264
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RTL8B"
                     /gene_synonym="CXX1c; FAM127C; MAR8B; SIRH4"
                     /note="hexamer: AATAGA"
     polyA_site      1260
                     /gene="RTL8B"
                     /gene_synonym="CXX1c; FAM127C; MAR8B; SIRH4"
                     /note="major polyA site"
     polyA_site      1282
                     /gene="RTL8B"
                     /gene_synonym="CXX1c; FAM127C; MAR8B; SIRH4"
     regulatory      2006..2011
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RTL8B"
                     /gene_synonym="CXX1c; FAM127C; MAR8B; SIRH4"
                     /note="hexamer: ATTAAA"
     polyA_site      2030
                     /gene="RTL8B"
                     /gene_synonym="CXX1c; FAM127C; MAR8B; SIRH4"
ORIGIN
        1 atgcacttcc cgctacgcct cggtgcagcc cccggcgaag cccagcgcag ctcagctaaa
       61 ctcagcggag ccagcgcggc gcgatggaag gtcgagtgca gctgatgaag gccctcctgg
      121 ctcggcccct ccggcccgcg gcgcgtcgct ggaggaaccc gattcccttt cccgagacgt
      181 ttgatggcga taccgaccgg ctcccggagt tcatcgtgca gacgagctcc tacatgttcg
      241 tggacgagaa cacgttctcc aacgacgccc tgaaggtgac gttcctcatc acccgcctca
      301 cggggcccgc cctgcagtgg gtgatcccct acatcaagaa ggagagcccc ctcctcagtg
      361 attaccgggg cttcctggct gagatgaagc gggtctttgg atgggaggag gacgaggact
      421 tctaggccgg gagaccctcg ggcctgggga ccggtgctct gggaagggtc cgctgtgtta
      481 ctggccgccg ccagggtcgc caccggcgcc ctccctccgc gcctccctcc ccctcgagcc
      541 gccacgatgt cccctgcgct cctgtcccct cccgcgtagt gcttgccttt gttccaggaa
      601 tagcgctcca ggctcctgct gccgcccctg ggcctcactc tggagcgggc tgcctccgcc
      661 ctctcgtgcc agctcagccc ctcccatgca catttggacg ctgtcctgcg ctccagttgc
      721 acaaagctga gctcctgtta cacactgaca gaccactgac agccgccgct gccaaccccc
      781 ctcctcctca ccagacttcc agacgactac atcatgctgc ccacagacct gcgctgccac
      841 tgccatcgcc atccatcgca ttccaccgac agactgctgc ttctagtgat ctgtactcac
      901 ctcggaggta tctgggctgg acacagcccc tggacaatga tccagacagc tggctgcccc
      961 tcaagggacc tgttaccttc agcgagaccc atttcctccc caatcccaga gactttttgt
     1021 gctcctgcca catggctgcc agggctcagt tgtgcctggc agccaaatcg agtctctcat
     1081 tttctcttgt ggaccagtta gttttgccca gaatccattt ctcttctgaa tttgcagcat
     1141 tttctcaggt gctttttgat caacaaaata acttgtatct tctgcttaac tcctttatac
     1201 tacctggaga aaagtatttt ccatattttc aataaatgtc agacactatt gagaaagaaa
     1261 tagagtctga atgaatatgg cacctttccc tccctggtcc tgtaaatgtg gtccatatct
     1321 tgttcagaag cgatatcccc tgccattcag tgactgatgt tgactcctgc attataaaac
     1381 atctaagata gagtcctgtg gtaacctggg ggatagtgtc cccactggtg atccttctgt
     1441 cccagatgtt gaatcctcta aaccagttag gattatccca agcctcttag taaatgaatc
     1501 gttacctcat tttggtcaac actatgtgag aagtcagcca gcaggctctt ggaaaatgta
     1561 tcctcatttc cagaaagtgg tttgaaaaca caattcccaa attgttacaa accataaatc
     1621 ccacacagat tattggtgaa cagctgtaaa attttactca acccatgatt cagggaacca
     1681 acagaattat ataggtgctt ttcaaaagca tttataaatt cttgattatg taggtagtgg
     1741 ggggaaatgc agaaatgaga tcattaattt agatacaaac ctggttgatg accagggggt
     1801 tttattttgc agaagaattg ggtatttggt atcattttat tcaattacat gtgatcctgg
     1861 tacatttcat aagcttgggt aaaaaaattt tttgttattt tccatgcaca ataagggaaa
     1921 tgttttaatt ggctttgtgc ctcctgcttt acaacagttc tggcctcaag ttaccaggta
     1981 gcctgaactt tgattttatt ttaccattaa attgctttaa taccattgta
//
LOCUS       NM_001078645            2331 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens cell division cycle 16 (CDC16), transcript variant 2,
            mRNA.
ACCESSION   NM_001078645
VERSION     NM_001078645.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2331)
  AUTHORS   Hu F, Fong KO, Cheung MPL, Liu JA, Liang R, Li TW, Sharma R, Ip PP,
            Yang X and Cheung M.
  TITLE     DEPDC1B Promotes Melanoma Angiogenesis and Metastasis through
            Sequestration of Ubiquitin Ligase CDC16 to Stabilize Secreted SCUBE3
  JOURNAL   Adv Sci (Weinh) 9 (10), e2105226 (2022)
   PUBMED   35088579
  REMARK    GeneRIF: DEPDC1B Promotes Melanoma Angiogenesis and Metastasis
            through Sequestration of Ubiquitin Ligase CDC16 to Stabilize
            Secreted SCUBE3.
REFERENCE   2  (bases 1 to 2331)
  AUTHORS   Wu H, Zhang X, Shen Q, Liu Y, Gao Y, Wang G, Lv M, Hua R, Xu Y, Zhou
            P, Wei Z, Tao F, He X, Cao Y and Liu M.
  TITLE     A homozygous loss-of-function mutation in FBXO43 causes human
            non-obstructive azoospermia
  JOURNAL   Clin Genet 101 (1), 55-64 (2022)
   PUBMED   34595750
REFERENCE   3  (bases 1 to 2331)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers
            SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L,
            Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich
            A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro
            MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2331)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2331)
  AUTHORS   Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran
            JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD,
            Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG and Yu H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2331)
  AUTHORS   Grossberger R, Gieffers C, Zachariae W, Podtelejnikov AV, Schleiffer
            A, Nasmyth K, Mann M and Peters JM.
  TITLE     Characterization of the DOC1/APC10 subunit of the yeast and the
            human anaphase-promoting complex
  JOURNAL   J Biol Chem 274 (20), 14500-14507 (1999)
   PUBMED   10318877
REFERENCE   7  (bases 1 to 2331)
  AUTHORS   Kallio M, Weinstein J, Daum JR, Burke DJ and Gorbsky GJ.
  TITLE     Mammalian p55CDC mediates association of the spindle checkpoint
            protein Mad2 with the cyclosome/anaphase-promoting complex, and is
            involved in regulating anaphase onset and late mitotic events
  JOURNAL   J Cell Biol 141 (6), 1393-1406 (1998)
   PUBMED   9628895
REFERENCE   8  (bases 1 to 2331)
  AUTHORS   Yu H, Peters JM, King RW, Page AM, Hieter P and Kirschner MW.
  TITLE     Identification of a cullin homology region in a subunit of the
            anaphase-promoting complex
  JOURNAL   Science 279 (5354), 1219-1222 (1998)
   PUBMED   9469815
REFERENCE   9  (bases 1 to 2331)
  AUTHORS   Ollendorff V and Donoghue DJ.
  TITLE     The serine/threonine phosphatase PP5 interacts with CDC16 and CDC27,
            two tetratricopeptide repeat-containing subunits of the
            anaphase-promoting complex
  JOURNAL   J Biol Chem 272 (51), 32011-32018 (1997)
   PUBMED   9405394
REFERENCE   10  (bases 1 to 2331)
  AUTHORS   Tugendreich S, Tomkiel J, Earnshaw W and Hieter P.
  TITLE     CDC27Hs colocalizes with CDC16Hs to the centrosome and mitotic
            spindle and is essential for the metaphase to anaphase transition
  JOURNAL   Cell 81 (2), 261-268 (1995)
   PUBMED   7736578
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.264295.1,
            SRR1803616.84521.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000356221.8/ ENSP00000348554.3
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC391369.1, BQ051608.1,
            AW953481.1, BQ424567.1, AW662777.1 and BM663581.1.
            On Nov 23, 2018 this sequence version replaced NM_001078645.2.
            Summary: The protein encoded by this gene functions as a protein
            ubiquitin ligase and is a component of the multiprotein APC
            complex. The APC complex is a cyclin degradation system that
            governs exit from mitosis by targeting cell cycle proteins for
            degredation by the 26S proteasome. Each component protein of the
            APC complex is highly conserved among eukaryotic organisms. This
            protein, and other APC complex proteins, contain a
            tetratricopeptide repeat (TPR) domain; a protein domain that is
            often involved in protein-protein interactions and the assembly of
            multiprotein complexes. Multiple alternatively spliced transcript
            variants, encoding distinct proteins, have been identified.
            [provided by RefSeq, Jan 2016].
            Transcript Variant: This variant (2) represents the longest
            transcript. Variants 1 and 2 encode the same isoform (1).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..2331
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     gene            1..2331
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="cell division cycle 16"
                     /db_xref="GeneID:8881"
                     /db_xref="HGNC:HGNC:1720"
                     /db_xref="MIM:603461"
     misc_feature    168..170
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="upstream in-frame stop codon"
     CDS             189..2051
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="isoform 1 is encoded by transcript variant 2; cell
                     division cycle protein 16 homolog; cell division cycle 16
                     homolog; anaphase-promoting complex, subunit 6; cyclosome
                     subunit 6"
                     /codon_start=1
                     /product="cell division cycle protein 16 homolog isoform 1"
                     /protein_id="NP_001072113.1"
                     /db_xref="CCDS:CCDS9542.2"
                     /db_xref="GeneID:8881"
                     /db_xref="HGNC:HGNC:1720"
                     /db_xref="MIM:603461"
                     /translation="MNLERLRKRVRQYLDQQQYQSALFWADKVASLSREEPQDIYWLAQ
                     CLYLTAQYHRAAHALRSRKLDKLYEACRYLAARCHYAAKEHQQALDVLDMEEPINKRLF
                     EKYLKDESGFKDPSSDWEMSQSSIKSSICLLRGKIYDALDNRTLATYSYKEALKLDVYC
                     FEAFDLLTSHHMLTAQEEKELLESLPLSKLCNEEQELLRFLFENKLKKYNKPSETVIPE
                     SVDGLQENLDVVVSLAERHYYNCDFKMCYKLTSVVMEKDPFHASCLPVHIGTLVELNKA
                     NELFYLSHKLVDLYPSNPVSWFAVGCYYLMVGHKNEHARRYLSKATTLEKTYGPAWIAY
                     GHSFAVESEHDQAMAAYFTAAQLMKGCHLPMLYIGLEYGLTNNSKLAERFFSQALSIAP
                     EDPFVMHEVGVVAFQNGEWKTAEKWFLDALEKIKAIGNEVTVDKWEPLLNNLGHVCRKL
                     KKYAEALDYHRQALVLIPQNASTYSAIGYIHSLMGNFENAVDYFHTALGLRRDDTFSVT
                     MLGHCIEMYIGDSEAYIGADIKDKLKCYDFDVHTMKTLKNIISPPWDFREFEVEKQTAE
                     ETGLTPLETSRKTPDSRPSLEETFEIEMNESDMMLETSMSDHST"
     misc_feature    198..287
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2);
                     Region: TPR 1"
     misc_feature    297..374
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2);
                     Region: TPR 2"
     misc_feature    396..467
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2);
                     Region: TPR 3"
     misc_feature    522..524
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14657031; propagated from
                     UniProtKB/Swiss-Prot (Q13042.2); phosphorylation site"
     misc_feature    570..665
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2);
                     Region: TPR 4"
     misc_feature    678..749
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2);
                     Region: TPR 5"
     misc_feature    780..854
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2);
                     Region: TPR 6"
     misc_feature    882..968
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2);
                     Region: TPR 7"
     misc_feature    987..1070
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2);
                     Region: TPR 8"
     misc_feature    1083..1175
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2);
                     Region: TPR 9"
     misc_feature    1188..1274
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2);
                     Region: TPR 10"
     misc_feature    1293..1379
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2);
                     Region: TPR 11"
     misc_feature    1392..1490
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2);
                     Region: TPR 12"
     misc_feature    1512..1610
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2);
                     Region: TPR 13"
     misc_feature    1623..1712
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2);
                     Region: TPR 14"
     misc_feature    1656..1658
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14657031; propagated from
                     UniProtKB/Swiss-Prot (Q13042.2); phosphorylation site"
     misc_feature    1866..1868
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14657031,
                     ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13042.2); phosphorylation site"
     misc_feature    1908..1985
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13042.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1929..1931
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:14657031,
                     ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:18691976,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q13042.2); phosphorylation site"
     misc_feature    1971..1973
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:14657031; propagated from
                     UniProtKB/Swiss-Prot (Q13042.2); phosphorylation site"
     misc_feature    1983..1985
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:14657031; propagated from
                     UniProtKB/Swiss-Prot (Q13042.2); phosphorylation site"
     regulatory      2264..2269
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="hexamer: AATAAA"
     polyA_site      2283
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="major polyA site"
     regulatory      2309..2314
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
                     /note="hexamer: AATAAA"
     polyA_site      2331
                     /gene="CDC16"
                     /gene_synonym="ANAPC6; APC6; CDC16Hs; CUT9"
ORIGIN
        1 agtgcacggg gcctgggtgg ggggtgcggg tgtgggtggg gacctgcggc cttcgagtcc
       61 gcggccttcg agtcctgggg cggcggcggc ggctgcaggc acgggcacgg gcacggggcg
      121 gggtgcttag ggtgcaggag gcgcgcgcct agcggcggag tgtggcgtga ggccgggccc
      181 gcgccgccat gaacctagag cggctgcgga agcgcgtccg gcagtacctc gaccagcaac
      241 agtatcaaag tgctctattt tgggcagata aagtagcttc actctctcgt gaagaacccc
      301 aggacatcta ttggttggct cagtgtcttt acctgacagc acaatatcac agagccgccc
      361 atgcacttcg gtcacgaaaa ctggacaaat tgtatgaagc atgtcgttac cttgcagcta
      421 ggtgccatta tgctgcaaaa gagcaccagc aggcccttga tgttcttgac atggaagagc
      481 ccatcaataa aagattattt gaaaaatact tgaaggacga aagtggcttc aaagatcctt
      541 ccagcgactg ggaaatgtca cagtcttcaa taaagagttc tatctgtctt ctacgcggga
      601 aaatctatga tgctctagat aaccgaaccc tggctaccta cagctacaaa gaagctttga
      661 agcttgatgt ctactgtttt gaagcgttcg atcttttaac atcacatcac atgctgacag
      721 cacaagaaga aaaagaactt cttgaatcac taccccttag caagctgtgt aatgaagaac
      781 aggaattgct gcgttttcta tttgagaaca aattgaaaaa atataataag cctagtgaaa
      841 cggtcatccc tgaatctgta gatggcttgc aagagaatct ggatgtggta gtgtctttag
      901 ctgagagaca ttattataac tgtgatttta aaatgtgcta caagcttact tctgtagtaa
      961 tggagaaaga tcctttccat gcaagttgtt tacctgtaca tatagggacg cttgtagagc
     1021 tgaataaagc caatgaactt ttctatcttt ctcataaact ggtggattta tatcctagta
     1081 atcctgtgtc ttggtttgca gtgggatgtt actatctcat ggtcggtcat aaaaatgaac
     1141 atgccagaag atatctcagc aaagccacaa cacttgagaa aacctatgga cctgcatgga
     1201 tagcctatgg acattcattt gcggtggaga gtgagcacga ccaagcgatg gctgcttact
     1261 tcacagcagc acagctgatg aaagggtgtc atttgcctat gctgtatatt ggattagaat
     1321 atggtttgac caataactca aaactagctg aaaggttctt cagccaagct ctgagcattg
     1381 caccggaaga cccttttgtt atgcatgagg tcggcgtggt tgcatttcag aatggagaat
     1441 ggaaaacagc cgaaaaatgg tttcttgatg ctttggaaaa aattaaagca attgggaacg
     1501 aggtaacagt tgacaaatgg gaacctttgt tgaacaactt ggggcatgtc tgcagaaaac
     1561 ttaaaaagta tgctgaggcc ttggattacc accgtcaggc actggtgttg attcctcaga
     1621 acgcatccac ctactctgct attggatata tccacagtct gatgggcaac tttgaaaatg
     1681 ctgtggacta cttccacaca gcccttggtc ttaggcgaga tgatacattt tctgttacaa
     1741 tgcttggtca ttgcatcgaa atgtacattg gtgattctga agcttatatt ggagcagaca
     1801 ttaaagacaa attaaaatgt tatgactttg atgtgcatac aatgaagaca ctaaaaaaca
     1861 ttatttcacc tccgtgggat ttcagggaat ttgaagtaga aaaacagact gcagaagaaa
     1921 cggggcttac gccattggaa acctcaagga aaactccaga ttccagacct tccttggaag
     1981 aaacctttga aattgaaatg aatgaaagtg acatgatgtt agagacatct atgtcagacc
     2041 acagcacgtg actccagtca gtggtcctgg tcccactgtc ccagtgtagg ttagtattcc
     2101 ttcacatcct ctccatggct taagaatgtc ccacttccta acgtgactcc aaactgcatc
     2161 tctacattta ggaacagaga cccgccttaa gagactggat cgcacacctt tgcaacagat
     2221 gtgttctgat tctctgaacc tacaaaatag ttatacatag tggaataaag aaggtaaacc
     2281 atctgttatg tctttttttt tcttttccaa taaactttta ttttggacta a
//
LOCUS       NM_001079               2421 bp    mRNA    linear   PRI 26-JUN-2023
DEFINITION  Homo sapiens zeta chain of T cell receptor associated protein kinase
            70 (ZAP70), transcript variant 1, mRNA.
ACCESSION   NM_001079
VERSION     NM_001079.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2421)
  AUTHORS   Mongellaz C, Vicente R, Noroski LM, Noraz N, Courgnaud V, Chinen J,
            Faria E, Zimmermann VS and Taylor N.
  TITLE     Combined immunodeficiency caused by pathogenic variants in the ZAP70
            C-terminal SH2 domain
  JOURNAL   Front Immunol 14, 1155883 (2023)
   PUBMED   37313400
  REMARK    GeneRIF: Combined immunodeficiency caused by pathogenic variants in
            the ZAP70 C-terminal SH2 domain. Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2421)
  AUTHORS   Anto NP, Arya AK, Muraleedharan A, Shaik J, Nath PR, Livneh E, Sun
            Z, Braiman A and Isakov N.
  TITLE     Cyclophilin A associates with and regulates the activity of ZAP70 in
            TCR/CD3-stimulated T cells
  JOURNAL   Cell Mol Life Sci 80 (1), 7 (2022)
   PUBMED   36495335
  REMARK    GeneRIF: Cyclophilin A associates with and regulates the activity of
            ZAP70 in TCR/CD3-stimulated T cells. Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2421)
  AUTHORS   Yu J, Gao W, Gao S, Wen S, Zhao Y, Shang Z, Wang Y and Niu Y.
  TITLE     Identification of LAT/ZAP70 characterized immune subtypes of
            prostate cancer
  JOURNAL   World J Urol 40 (11), 2817-2824 (2022)
   PUBMED   36205741
  REMARK    GeneRIF: Identification of LAT/ZAP70 characterized immune subtypes
            of prostate cancer.
REFERENCE   4  (bases 1 to 2421)
  AUTHORS   Schultz A, Schnurra M, El-Bizri A, Woessner NM, Hartmann S, Hartig
            R, Minguet S, Schraven B and Simeoni L.
  TITLE     A Cysteine Residue within the Kinase Domain of Zap70 Regulates Lck
            Activity and Proximal TCR Signaling
  JOURNAL   Cells 11 (17), 2723 (2022)
   PUBMED   36078131
  REMARK    GeneRIF: A Cysteine Residue within the Kinase Domain of Zap70
            Regulates Lck Activity and Proximal TCR Signaling. Publication
            Status: Online-Only
REFERENCE   5  (bases 1 to 2421)
  AUTHORS   Kuroyama H, Ikeda T, Kasai M, Yamasaki S, Tatsumi M, Utsuyama M,
            Saito T and Hirokawa K.
  TITLE     Identification of a novel isoform of ZAP-70, truncated ZAP kinase
  JOURNAL   Biochem Biophys Res Commun 315 (4), 935-941 (2004)
   PUBMED   14985102
REFERENCE   6  (bases 1 to 2421)
  AUTHORS   Nel AE, Gupta S, Lee L, Ledbetter JA and Kanner SB.
  TITLE     Ligation of the T-cell antigen receptor (TCR) induces association of
            hSos1, ZAP-70, phospholipase C-gamma 1, and other phosphoproteins
            with Grb2 and the zeta-chain of the TCR
  JOURNAL   J Biol Chem 270 (31), 18428-18436 (1995)
   PUBMED   7629168
REFERENCE   7  (bases 1 to 2421)
  AUTHORS   Isakov N, Wange RL, Burgess WH, Watts JD, Aebersold R and Samelson
            LE.
  TITLE     ZAP-70 binding specificity to T cell receptor tyrosine-based
            activation motifs: the tandem SH2 domains of ZAP-70 bind distinct
            tyrosine-based activation motifs with varying affinity
  JOURNAL   J Exp Med 181 (1), 375-380 (1995)
   PUBMED   7528772
REFERENCE   8  (bases 1 to 2421)
  AUTHORS   Iwashima M, Irving BA, van Oers NS, Chan AC and Weiss A.
  TITLE     Sequential interactions of the TCR with two distinct cytoplasmic
            tyrosine kinases
  JOURNAL   Science 263 (5150), 1136-1139 (1994)
   PUBMED   7509083
REFERENCE   9  (bases 1 to 2421)
  AUTHORS   Walkovich,K. and Vander Lugt,M.
  TITLE     ZAP70-Related Combined Immunodeficiency
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.); GENEREVIEWS(R); (1993)
   PUBMED   20301777
REFERENCE   10  (bases 1 to 2421)
  AUTHORS   Chan AC, Iwashima M, Turck CW and Weiss A.
  TITLE     ZAP-70: a 70 kd protein-tyrosine kinase that associates with the TCR
            zeta chain
  JOURNAL   Cell 71 (4), 649-662 (1992)
   PUBMED   1423621
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: L05148.1, BC053878.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000264972.10/ ENSP00000264972.5
            RefSeq Select criteria :: based on manual assertion, conservation,
            expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC017099.11 and AC016699.10.
            On Feb 21, 2020 this sequence version replaced NM_001079.3.
            Summary: This gene encodes an enzyme belonging to the protein
            tyrosine kinase family, and it plays a role in T-cell development
            and lymphocyte activation. This enzyme, which is phosphorylated on
            tyrosine residues upon T-cell antigen receptor (TCR) stimulation,
            functions in the initial step of TCR-mediated signal transduction
            in combination with the Src family kinases, Lck and Fyn. This
            enzyme is also essential for thymocyte development. Mutations in
            this gene cause selective T-cell defect, a severe combined
            immunodeficiency disease characterized by a selective absence of
            CD8-positive T-cells. Two transcript variants that encode different
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2008].
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2421
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..2421
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="zeta chain of T cell receptor associated protein
                     kinase 70"
                     /db_xref="GeneID:7535"
                     /db_xref="HGNC:HGNC:12858"
                     /db_xref="MIM:176947"
     CDS             200..2059
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /EC_number="2.7.10.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     zeta-chain associated protein kinase, 70kD;
                     tyrosine-protein kinase ZAP-70; syk-related tyrosine
                     kinase; zeta chain of T cell receptor associated protein
                     kinase 70kDa; 70 kDa zeta-associated protein; 70 kDa
                     zeta-chain associated protein; zeta-chain (TCR) associated
                     protein kinase 70kDa"
                     /codon_start=1
                     /product="tyrosine-protein kinase ZAP-70 isoform 1"
                     /protein_id="NP_001070.2"
                     /db_xref="CCDS:CCDS33254.1"
                     /db_xref="GeneID:7535"
                     /db_xref="HGNC:HGNC:12858"
                     /db_xref="MIM:176947"
                     /translation="MPDPAAHLPFFYGSISRAEAEEHLKLAGMADGLFLLRQCLRSLGG
                     YVLSLVHDVRFHHFPIERQLNGTYAIAGGKAHCGPAELCEFYSRDPDGLPCNLRKPCNR
                     PSGLEPQPGVFDCLRDAMVRDYVRQTWKLEGEALEQAIISQAPQVEKLIATTAHERMPW
                     YHSSLTREEAERKLYSGAQTDGKFLLRPRKEQGTYALSLIYGKTVYHYLISQDKAGKYC
                     IPEGTKFDTLWQLVEYLKLKADGLIYCLKEACPNSSASNASGAAAPTLPAHPSTLTHPQ
                     RRIDTLNSDGYTPEPARITSPDKPRPMPMDTSVYESPYSDPEELKDKKLFLKRDNLLIA
                     DIELGCGNFGSVRQGVYRMRKKQIDVAIKVLKQGTEKADTEEMMREAQIMHQLDNPYIV
                     RLIGVCQAEALMLVMEMAGGGPLHKFLVGKREEIPVSNVAELLHQVSMGMKYLEEKNFV
                     HRDLAARNVLLVNRHYAKISDFGLSKALGADDSYYTARSAGKWPLKWYAPECINFRKFS
                     SRSDVWSYGVTMWEALSYGQKPYKKMKGPEVMAFIEQGKRMECPPECPPELYALMSDCW
                     IYKWEDRPDFLTVEQRMRACYYSLASKVEGPPGSTQKAEAACA"
     misc_feature    506..685
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="propagated from UniProtKB/Swiss-Prot (P43403.1);
                     Region: Interdomain A"
     misc_feature    941..943
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:15592455; propagated from
                     UniProtKB/Swiss-Prot (P43403.1); phosphorylation site"
     misc_feature    962..1210
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="propagated from UniProtKB/Swiss-Prot (P43403.1);
                     Region: Interdomain B"
     misc_feature    977..1126
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="propagated from UniProtKB/Swiss-Prot (P43403.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1064..1066
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:15144186; propagated from
                     UniProtKB/Swiss-Prot (P43403.1); phosphorylation site"
     misc_feature    1073..1075
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:8943331,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P43403.1); phosphorylation site"
     misc_feature    1142..1144
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="Phosphotyrosine, by LCK.
                     /evidence=ECO:0000269|PubMed:10037717; propagated from
                     UniProtKB/Swiss-Prot (P43403.1); phosphorylation site"
     misc_feature    1154..1156
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:10037717; propagated from
                     UniProtKB/Swiss-Prot (P43403.1); phosphorylation site"
     misc_feature    1673..1675
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:7781602; propagated from
                     UniProtKB/Swiss-Prot (P43403.1); phosphorylation site"
     misc_feature    1676..1678
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:7781602; propagated from
                     UniProtKB/Swiss-Prot (P43403.1); phosphorylation site"
     misc_feature    2006..2008
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P43403.1); acetylation site"
     regulatory      2400..2405
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="hexamer: AATAAA"
     polyA_site      2421
                     /gene="ZAP70"
                     /gene_synonym="ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70"
                     /note="major polyA site"
ORIGIN
        1 agtttcagac aagcctgctt gccggagctc agcagacacc aggccttccg ggcaggcctg
       61 gcccaccgtg ggcctcagag ctgctgctgg ggcattcaga accggctctc cattggcatt
      121 gggaccagag accccgcaag tggcctgttt gcctggacat ccacctgtac gtccccaggt
      181 ttcgggaggc ccaggggcga tgccagaccc cgcggcgcac ctgcccttct tctacggcag
      241 catctcgcgt gccgaggccg aggagcacct gaagctggcg ggcatggcgg acgggctctt
      301 cctgctgcgc cagtgcctgc gctcgctggg cggctatgtg ctgtcgctcg tgcacgatgt
      361 gcgcttccac cactttccca tcgagcgcca gctcaacggc acctacgcca ttgccggcgg
      421 caaagcgcac tgtggaccgg cagagctctg cgagttctac tcgcgcgacc ccgacgggct
      481 gccctgcaac ctgcgcaagc cgtgcaaccg gccgtcgggc ctcgagccgc agccgggggt
      541 cttcgactgc ctgcgagacg ccatggtgcg tgactacgtg cgccagacgt ggaagctgga
      601 gggcgaggcc ctggagcagg ccatcatcag ccaggccccg caggtggaga agctcattgc
      661 tacgacggcc cacgagcgga tgccctggta ccacagcagc ctgacgcgtg aggaggccga
      721 gcgcaaactt tactctgggg cgcagaccga cggcaagttc ctgctgaggc cgcggaagga
      781 gcagggcaca tacgccctgt ccctcatcta tgggaagacg gtgtaccact acctcatcag
      841 ccaagacaag gcgggcaagt actgcattcc cgagggcacc aagtttgaca cgctctggca
      901 gctggtggag tatctgaagc tgaaggcgga cgggctcatc tactgcctga aggaggcctg
      961 ccccaacagc agtgccagca acgcctcagg ggctgctgct cccacactcc cagcccaccc
     1021 atccacgttg actcatcctc agagacgaat cgacaccctc aactcagatg gatacacccc
     1081 tgagccagca cgcataacgt ccccagacaa accgcggccg atgcccatgg acacgagcgt
     1141 gtatgagagc ccctacagcg acccagagga gctcaaggac aagaagctct tcctgaagcg
     1201 cgataacctc ctcatagctg acattgaact tggctgcggc aactttggct cagtgcgcca
     1261 gggcgtgtac cgcatgcgca agaagcagat cgacgtggcc atcaaggtgc tgaagcaggg
     1321 cacggagaag gcagacacgg aagagatgat gcgcgaggcg cagatcatgc accagctgga
     1381 caacccctac atcgtgcggc tcattggcgt ctgccaggcc gaggccctca tgctggtcat
     1441 ggagatggct gggggcgggc cgctgcacaa gttcctggtc ggcaagaggg aggagatccc
     1501 tgtgagcaat gtggccgagc tgctgcacca ggtgtccatg gggatgaagt acctggagga
     1561 gaagaacttt gtgcaccgtg acctggcggc ccgcaacgtc ctgctggtta accggcacta
     1621 cgccaagatc agcgactttg gcctctccaa agcactgggt gccgacgaca gctactacac
     1681 tgcccgctca gcagggaagt ggccgctcaa gtggtacgca cccgaatgca tcaacttccg
     1741 caagttctcc agccgcagcg atgtctggag ctatggggtc accatgtggg aggccttgtc
     1801 ctacggccag aagccctaca agaagatgaa agggccggag gtcatggcct tcatcgagca
     1861 gggcaagcgg atggagtgcc caccagagtg tccacccgaa ctgtacgcac tcatgagtga
     1921 ctgctggatc tacaagtggg aggatcgccc cgacttcctg accgtggagc agcgcatgcg
     1981 agcctgttac tacagcctgg ccagcaaggt ggaagggccc ccaggcagca cacagaaggc
     2041 tgaggctgcc tgtgcctgag ctcccgctgc ccaggggagc cctccacgcc ggctcttccc
     2101 caccctcagc cccaccccag gtcctgcagt ctggctgagc cctgcttggt tgtctccaca
     2161 cacagctggg ctgtggtagg gggtgtctca ggccacaccg gccttgcatt gcctgcctgg
     2221 ccccctgtcc tctctggctg gggagcaggg aggtccggga gggtgcggct gtgcagcctg
     2281 tcctgggctg gtggctcccg gagggccctg agctgagggc attgcttaca cggatgcctt
     2341 cccctgggcc ctgacattgg agcctgggca tcctcaggtg gtcaggcgta gatcaccaga
     2401 ataaacccag cttccctctt g
//
LOCUS       NM_001079512            3370 bp    mRNA    linear   PRI 24-DEC-2022
DEFINITION  Homo sapiens trans-golgi network vesicle protein 23 homolog A
            (TVP23A), transcript variant 1, mRNA.
ACCESSION   NM_001079512
VERSION     NM_001079512.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3370)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R,
            Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis
            C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M,
            Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C,
            Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M,
            Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E,
            Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N,
            MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan
            A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM,
            Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y,
            Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy
            P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J,
            Hill DE, Vidal M, Roth FP and Calderwood MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.127198.1,
            SRR1803614.237197.1 [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000299866.13/ ENSP00000299866.8
            RefSeq Select criteria :: based on conservation, expression, longest
            protein
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA248626.1, AK294418.1,
            AC074136.4 and AL833564.1.
            On Nov 22, 2018 this sequence version replaced NM_001079512.3.
            Summary: This gene encodes a membrane protein associated with the
            Golgi apparatus, which plays a crucial role in intracellular
            vesicular transport. The encoded protein is likely associated with
            the late (trans) Golgi compartments, which are involved in the
            delivery of secretory and membrane proteins to the endosome,
            lysosome or the plasma membrane. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Jan 2016].
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..3370
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.13"
     gene            1..3370
                     /gene="TVP23A"
                     /gene_synonym="FAM18A; YDR084C"
                     /note="trans-golgi network vesicle protein 23 homolog A"
                     /db_xref="GeneID:780776"
                     /db_xref="HGNC:HGNC:20398"
     misc_feature    155..157
                     /gene="TVP23A"
                     /gene_synonym="FAM18A; YDR084C"
                     /note="upstream in-frame stop codon"
     CDS             302..943
                     /gene="TVP23A"
                     /gene_synonym="FAM18A; YDR084C"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein FAM18A; family with sequence similarity 18, member
                     A; Golgi apparatus membrane protein TVP23 homolog A"
                     /codon_start=1
                     /product="Golgi apparatus membrane protein TVP23 homolog A
                     isoform 1"
                     /protein_id="NP_001072980.1"
                     /db_xref="CCDS:CCDS45408.1"
                     /db_xref="GeneID:780776"
                     /db_xref="HGNC:HGNC:20398"
                     /translation="MKQALVDDTEDVSLDFGNEEELAFRKAKIRHPLATFFHLFFRVSA
                     IVTYVSCDWFSKSFVGCFVMVLLLLSLDFWSVKNVTGRLLVGLRWWNQIDEDGKSHWIF
                     EARKVSPNSIAATEAEARIFWLGLIICPMIWIVFFFSTLFSLKLKWLALVVAGISLQAA
                     NLYGYILCKMGGNSDIGKVTASFLSQTVFQTACPGDFQKPGLEGLEIHQH"
     misc_feature    395..457
                     /gene="TVP23A"
                     /gene_synonym="FAM18A; YDR084C"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NH52.3);
                     transmembrane region"
     misc_feature    461..523
                     /gene="TVP23A"
                     /gene_synonym="FAM18A; YDR084C"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NH52.3);
                     transmembrane region"
     misc_feature    668..730
                     /gene="TVP23A"
                     /gene_synonym="FAM18A; YDR084C"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NH52.3);
                     transmembrane region"
     misc_feature    749..811
                     /gene="TVP23A"
                     /gene_synonym="FAM18A; YDR084C"
                     /note="propagated from UniProtKB/Swiss-Prot (A6NH52.3);
                     transmembrane region"
     regulatory      1113..1118
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TVP23A"
                     /gene_synonym="FAM18A; YDR084C"
                     /note="hexamer: CATAAA"
     polyA_site      1135
                     /gene="TVP23A"
                     /gene_synonym="FAM18A; YDR084C"
                     /note="major polyA site"
     regulatory      3345..3350
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TVP23A"
                     /gene_synonym="FAM18A; YDR084C"
                     /note="hexamer: AATAAA"
     polyA_site      3370
                     /gene="TVP23A"
                     /gene_synonym="FAM18A; YDR084C"
                     /note="major polyA site"
ORIGIN
        1 attcctccca ctatctctgt ccgcagttcc ccaggccgtt gcctccctgc cgccgctttc
       61 tctcctgggc gcgtccccgg cgagccgagc cccctcccca gcctgcgact gcgccttagg
      121 ccccgagcgc cccgccccac ccgagaagct gcgctgaggc tgccccacag ggcgcaggcc
      181 ccgaccctca gcgtccaccg tctgctgcct acatccgccc gcccggcgtc cgaccccttc
      241 agcggcgacg ggcggagctg gagccccggg cctgggcgcc aggtgggctc ctgggagggt
      301 gatgaagcag gccctggtgg acgataccga ggatgtgtcc ctggactttg gaaacgagga
      361 ggagctggcc tttaggaaag ccaagatcag acaccccttg gccacctttt tccacctgtt
      421 tttccgagtg agtgccatcg tcacctacgt gagctgcgac tggttcagca agagctttgt
      481 gggctgtttt gtcatggtgc tgctcctcct gtccctggac ttctggtctg tgaagaatgt
      541 aaccggaaga ctcctggtgg gccttcgatg gtggaaccag atagatgaag atgggaagag
      601 ccactggatc tttgaagcca ggaaggtctc tccgaatagc attgctgcca cagaagctga
      661 agcacgaatc ttctggctgg gcctcataat ctgccccatg atatggattg tgtttttttt
      721 tagcacctta ttttccttga agctaaagtg gctggctctg gtggttgctg ggatctctct
      781 ccaagctgca aacctgtatg gctacatcct ttgtaagatg ggaggcaaca gtgacattgg
      841 caaggtcaca gccagtttcc tgtcccagac agtgttccag acggcctgcc caggtgactt
      901 tcagaagcct ggcctcgagg ggctggagat tcaccagcat taggaactga tgaggttctc
      961 ttcttttgac tgatggagat tacaaaactc ttggattcct ggaaaacaag acgacaggca
     1021 tagagtgcta atggcttgtc taccccttga cagccctgtc ctgtgctggg gagggctgtg
     1081 ttttgacagg ggtggaatcc tctggctagt tccataaaaa gacctgtgtc tgtgatgccc
     1141 tgagtctttg aaagtgaccg gaatacctca cactacccat cttgctcata accagtggct
     1201 gcggccttcc tcggaccatc tatagatgga ggattctggg aatgctgttt ccttaccctt
     1261 gacatcattc ttctaggcaa gtaaaaccca gccacaaact cagagaccac agctttaaca
     1321 aacactgaca cctctgccct aactctgggg cctctgatgg ctgccactgg ctgaatgtgg
     1381 cctgcacgtg ggtttggtct ggctcaacaa agtttttatt tttatttttt atttttttga
     1441 gacacggtct cacgctgttg cccaggctgg agtgcagtgg cgcgatctcg ccttactgca
     1501 gcctccgcct cccaggttca agcgattctc ctgcctcagc ctcctgagta gctgggacta
     1561 caggcatgcg ccaccacacc cggctaattt tcatattttt agtagagaca gtgtttctcc
     1621 atgttagcca ggctggtctt gaactcctga ccagcctcaa gtgatctgcc tgcctccttc
     1681 acccaaagtg ctgggattcc aggtgtgagc cactgcacct ggcctttttt ttttttatca
     1741 gttactttta aaaatgaatt actttatccc tttattggga tgtatttcct aagccataaa
     1801 tttcaccctc accatgtttt ttaaactatg aattaattca caatactcac acattgagag
     1861 atttctcatg gactcctggc ttcctcggct atgggggcca ctctgtggtc atcacagacc
     1921 ccaccaccca cctgtccttc cacacccctg gctcctttat gttgcttcct gccccacagg
     1981 catctgcatt tagtactcat ggaaatactt actctgaatt atacttctgt aggctaacgt
     2041 ggctggggaa tctggggcgt caatgaaaaa agactggcct ttgtcacaat tcttacctta
     2101 aaaaagaaac aaacggaaga caattcagtc caagaggaaa acagaatggc cacaagatct
     2161 tggggctctt tccgtgctgg tgacaatggg aagatcttga gcccgcttca ctcgtaatga
     2221 agaacaaagt agaaaagacc agtggggtct cagggacctt ccttccagca gggtccccag
     2281 ccagcatttc agcgtggcta aataatcagg tggtgtacag aaaatgcagg ttccagggcc
     2341 ctacagagaa ctgattcagc agcttccaca tgggcccagg agtctgcatt ttaagagatt
     2401 agcttttgag tgaaaggatc atgaatgcac atggttaaaa aaagtacaga atgcaaaagg
     2461 atatggcata aaaggccaag tccgaaaagg gctactagtg ttctaggtgt ctttccagaa
     2521 agattatgcg catataaatg tgcacacttg catgtgtgcg cacacacata cacacactct
     2581 catataccta aaatacgaat gggagcacat gacacacaca ttctgcctgc tgctttgtct
     2641 gtgtataatt ttatcttcca ggtcatctgt gctggtgtct atcagtctgc tagtctttcc
     2701 ccgccatgtg gccattgttc cagtcccctc ctatgcacac ccaggtttct ctaggaccat
     2761 gttatcccag agccaggtgg acaggacaca aggggctagg ggtcaatggg ggtgttctcg
     2821 cctccagtct gccctgccag cccccagtcg tgggtggacc tgccatcagc ttgctctgcc
     2881 cactccccag gcctgagctg ctggcgaaac aggcaagtga ctgcactgcc catggccggt
     2941 caccagcctc aggtgaaccc caggaggggt tcctacctag cactcatcat ttcctcaact
     3001 tcactactgt gtcgccctgt gggacaggga agtccaagtc ggggaagaag cctgtgggga
     3061 ggggttggtg ggagatgggg agcccatatg gcccagtgag tcaggaaaat agggtccaga
     3121 ggcagggaac ataaggccaa ttcgcacttg agccataaca ggaaatgtcc tctccatagg
     3181 acgtatgccg taaatgactt tgtaacttta cttcatcctt ttcgtttata tagggcgtac
     3241 ctcaagtaga gggtatttaa acacaaaaac tctgtaatgg ggcctttgag cccctattct
     3301 caggcccgtt ctcctcccac accgtggagt tgactttcat tttcaataaa tcccttcctt
     3361 ccttcctttc
//
LOCUS       NM_001079514            6443 bp    mRNA    linear   PRI 18-DEC-2022
DEFINITION  Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.
ACCESSION   NM_001079514
VERSION     NM_001079514.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6443)
  AUTHORS   Ricketts MD, Dasgupta N, Fan J, Han J, Gerace M, Tang Y, Black BE,
            Adams PD and Marmorstein R.
  TITLE     The HIRA histone chaperone complex subunit UBN1 harbors H3/H4- and
            DNA-binding activity
  JOURNAL   J Biol Chem 294 (23), 9239-9259 (2019)
   PUBMED   31040182
  REMARK    GeneRIF: UBN1 may be capable of binding two H3.3/H4 molecules to
            facilitate (H3.3/H4)2 tetramer formation in a pathway to nucleosome
            deposition that may also involve UBN1-mediated DNA binding by the
            HIRA complex.
REFERENCE   2  (bases 1 to 6443)
  AUTHORS   Ray-Gallet D, Ricketts MD, Sato Y, Gupta K, Boyarchuk E, Senda T,
            Marmorstein R and Almouzni G.
  TITLE     Functional activity of the H3.3 histone chaperone complex HIRA
            requires trimerization of the HIRA subunit
  JOURNAL   Nat Commun 9 (1), 3103 (2018)
   PUBMED   30082790
  REMARK    GeneRIF: analysis of the trimeric HIRA, UBN1 and CABIN1 H3.3 histone
            chaperone complex Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6443)
  AUTHORS   Ricketts MD and Marmorstein R.
  TITLE     A Molecular Prospective for HIRA Complex Assembly and H3.3-Specific
            Histone Chaperone Function
  JOURNAL   J Mol Biol 429 (13), 1924-1933 (2017)
   PUBMED   27871933
  REMARK    Review article
REFERENCE   4  (bases 1 to 6443)
  AUTHORS   Ricketts MD, Frederick B, Hoff H, Tang Y, Schultz DC, Singh Rai T,
            Grazia Vizioli M, Adams PD and Marmorstein R.
  TITLE     Ubinuclein-1 confers histone H3.3-specific-binding by the HIRA
            histone chaperone complex
  JOURNAL   Nat Commun 6, 7711 (2015)
   PUBMED   26159857
  REMARK    GeneRIF: study points to UBN1 as the determinant of H3.3-specific
            binding and deposition by the HIRA histone chaperone complex.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6443)
  AUTHORS   Tang Y, Puri A, Ricketts MD, Rai TS, Hoffmann J, Hoi E, Adams PD,
            Schultz DC and Marmorstein R.
  TITLE     Identification of an ubinuclein 1 region required for stability and
            function of the human HIRA/UBN1/CABIN1/ASF1a histone H3.3 chaperone
            complex
  JOURNAL   Biochemistry 51 (12), 2366-2377 (2012)
   PUBMED   22401310
  REMARK    GeneRIF: NHRD domain of UBN1 as being an essential region for HIRA
            interaction and chromatin organization by the HUCA complex
REFERENCE   6  (bases 1 to 6443)
  AUTHORS   Rai TS, Puri A, McBryan T, Hoffman J, Tang Y, Pchelintsev NA, van
            Tuyn J, Marmorstein R, Schultz DC and Adams PD.
  TITLE     Human CABIN1 is a functional member of the human HIRA/UBN1/ASF1a
            histone H3.3 chaperone complex
  JOURNAL   Mol Cell Biol 31 (19), 4107-4118 (2011)
   PUBMED   21807893
  REMARK    GeneRIF: Data show that, like HIRA, UBN1, and ASF1a, CABIN1 is
            involved in heterochromatinization of the genome of senescent human
            cells.
REFERENCE   7  (bases 1 to 6443)
  AUTHORS   Gruffat H, Lupo J, Morand P, Boyer V and Manet E.
  TITLE     The nuclear and adherent junction complex component protein
            ubinuclein negatively regulates the productive cycle of Epstein-Barr
            virus in epithelial cells
  JOURNAL   J Virol 85 (2), 784-794 (2011)
   PUBMED   21084479
  REMARK    GeneRIF: By a chromatin immunoprecipitation (ChIP) assay, the
            authors show that Ubn-1 blocks EB1-human herpesvirus 4 DNA
            interaction.
REFERENCE   8  (bases 1 to 6443)
  AUTHORS   Aho S, Lupo J, Coly PA, Sabine A, Castellazzi M, Morand P, Sergeant
            A, Manet E, Boyer V and Gruffat H.
  TITLE     Characterization of the ubinuclein protein as a new member of the
            nuclear and adhesion complex components (NACos)
  JOURNAL   Biol Cell 101 (6), 319-334 (2009)
   PUBMED   18823282
  REMARK    GeneRIF: Analyses have revealed that in most cells ubinuclein
            occurred in the nucleoplasm, but in cells forming tight junctions it
            is recruited to the plaque structure of the zonula occludens.
REFERENCE   9  (bases 1 to 6443)
  AUTHORS   Banumathy G, Somaiah N, Zhang R, Tang Y, Hoffmann J, Andrake M,
            Ceulemans H, Schultz D, Marmorstein R and Adams PD.
  TITLE     Human UBN1 is an ortholog of yeast Hpc2p and has an essential role
            in the HIRA/ASF1a chromatin-remodeling pathway in senescent cells
  JOURNAL   Mol Cell Biol 29 (3), 758-770 (2009)
   PUBMED   19029251
  REMARK    GeneRIF: Hpc2-related domain of UBN1, UBN2, and Hpc2p is an
            evolutionarily conserved HIRA/Hir-binding domain, which directly
            interacts with the N-terminal WD repeats of HIRA/Hir.
REFERENCE   10  (bases 1 to 6443)
  AUTHORS   Aho S, Buisson M, Pajunen T, Ryoo YW, Giot JF, Gruffat H, Sergeant A
            and Uitto J.
  TITLE     Ubinuclein, a novel nuclear protein interacting with cellular and
            viral transcription factors
  JOURNAL   J Cell Biol 148 (6), 1165-1176 (2000)
   PUBMED   10725330
COMMENT     ##Evidence-Data-START##
            Transcript exon combination :: AF108460.1, SRR7346977.2899130.1
            [ECO:0000332]
            RNAseq introns :: single sample supports all introns SAMEA1965299,
            SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            ##RefSeq-Attributes-START##
            MANE Ensembl match          :: ENST00000262376.11/ ENSP00000262376.5
            RefSeq Select criteria      :: based on conservation, expression
            ##RefSeq-Attributes-END##
            REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020663.1 and AC027687.7.
            This sequence is a reference standard in the RefSeqGene project.
            On May 17, 2019 this sequence version replaced NM_001079514.2.
            Summary: Cellular senescence is a hallmark of tumor suppression and
            tissue aging. Senescent cells contain domains of heterochromatin,
            called senescence-associated heterochromatin foci (SAHF), that
            repress proliferation-promoting genes. The protein encoded by this
            gene binds to proliferation-promoting genes and is required for
            SAHF formation, enhancing methylation of histone H3. [provided by
            RefSeq, Oct 2016].
            Transcript Variant: This variant (2) represents the longest
            transcript and encodes the longer isoform (a).
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..6443
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..6443
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="ubinuclein 1"
                     /db_xref="GeneID:29855"
                     /db_xref="HGNC:HGNC:12506"
                     /db_xref="MIM:609771"
     misc_feature    752..754
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="upstream in-frame stop codon"
     CDS             770..4174
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="isoform a is encoded by transcript variant 2;
                     HIRA-binding protein; ubiquitously expressed nuclear
                     protein"
                     /codon_start=1
                     /product="ubinuclein-1 isoform a"
                     /protein_id="NP_001072982.1"
                     /db_xref="CCDS:CCDS10525.1"
                     /db_xref="GeneID:29855"
                     /db_xref="HGNC:HGNC:12506"
                     /db_xref="MIM:609771"
                     /translation="MSEPHRVQFTSLPGSLNPAFLKKSRKEEAGAGEQHQDCEPAAAAV
                     RITLTLFEPDHKRCPEFFYPELVKNIRGKVKGLQPGDKKKDLSDPFNDEEKERHKVEAL
                     ARKFEEKYGGKKRRKDRIQDLIDMGYGYDESDSFIDNSEAYDELVPASLTTKYGGFYIN
                     SGTLQFRQASESEDDFIKEKKKKSPKKRKLKEGGEKIKKKKKDDTYDKEKKSKKSKFSK
                     AGFTALNASKEKKKKKYSGALSVKEMLKKFQKEKEAQKKREEEHKPVAVPSAEAQGLRE
                     LEGASDPLLSLFGSTSDNDLLQAATAMDSLTDLDLEHLLSESPEGSPFRDMDDGSDSLG
                     VGLDQEFRQPSSLPEGLPAPLEKRVKELAQAARAAEGESRQKFFTQDINGILLDIEAQT
                     RELSSQVRSGVYAYLASFLPCSKDALLKRARKLHLYEQGGRLKEPLQKLKEAIGRAMPE
                     QMAKYQDECQAHTQAKVAKMLEEEKDKEQRDRICSDEEEDEEKGGRRIMGPRKKFQWND
                     EIRELLCQVVKIKLESQDLERNNKAQAWEDCVKGFLDAEVKPLWPKGWMQARTLFKESR
                     RGHGHLTSILAKKKVMAPSKIKVKESSTKPDKKVSVPSGQIGGPIALPSDHQTGGLSIG
                     ASSRELPSQASGGLANPPPVNLEDSLDEDLIRNPASSVEAVSKELAALNSRAAGNSEFT
                     LPAPSKAPAEKVGGVLCTEEKRNFAKPSPSAPPPASSLQSPLNFLAEQALALGQSSQEK
                     KPESSGYKELSCQAPLNKGLPEVHQSKAKHHSLPRTSHGPQVAVPVPGPQVKVFHAGTQ
                     QQKNFTPPSPFANKLQGPKASPTQCHRSLLQLVKTAAKGQGFHPSAPATSGGLSASSSS
                     SHKTPASSSSALSHPAKPHSVSSAGSSYKNNPFASSISKHGVSSGSSSSGGTPVQSSVS
                     GSLVPGIQPPSVGQATSRPVPSSAGKKMPVSQKLTLVAPPGGPNGDSSGGTQGVAKLLT
                     SPSLKPSAVSSVTSSTSLSKGASGTVLLAGSSLMASPYKSSSPKLSGAMSSNSLGIITP
                     VPIPVHVLSFSADSSAKAGVSKDAIVTGPAPGSFHHGLGHSLLAGLHSSPPHAAPLPHA
                     AVPTHIPQSLPGASQLHGKGPAVPRKL"
     misc_feature    770..1267
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPG3.2);
                     Region: Sufficient for interaction with HIRA.
                     /evidence=ECO:0000269|PubMed:19029251"
     misc_feature    770..883
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPG3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1001..1063
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPG3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1265..1267
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9NPG3.2); phosphorylation site"
     misc_feature    1280..1429
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPG3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1286..1288
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q9NPG3.2); phosphorylation site"
     misc_feature    1292..1294
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q9NPG3.2); phosphorylation site"
     misc_feature    1433..1435
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9NPG3.2); acetylation site"
     misc_feature    1526..1615
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPG3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1730..1843
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPG3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1736..1738
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9NPG3.2); phosphorylation site"
     misc_feature    1775..1777
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9NPG3.2); phosphorylation site"
     misc_feature    1781..1783
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9NPG3.2); phosphorylation site"
     misc_feature    2207..2281
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPG3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2246..2248
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9NPG3.2); phosphorylation site"
     misc_feature    2549..2749
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPG3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    2747..2749
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q9NPG3.2);
                     phosphorylation site"
     misc_feature    2798..2800
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9NPG3.2); phosphorylation site"
     misc_feature    2903..3277
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPG3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3323..3727
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPG3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    3842..3844
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9NPG3.2); phosphorylation site"
     misc_feature    4046..4171
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NPG3.2);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     regulatory      6377..6382
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="hexamer: AATAAA"
     polyA_site      6402
                     /gene="UBN1"
                     /gene_synonym="VT; VT4"
                     /note="major polyA site"
ORIGIN
        1 ggctccttcc ccctcccttc ggctcgtgac aacgaagcgc ccgcggtctg aggcggcggc
       61 ggcggcgacg gtgcgaccgg ctgagcgcga gagggagccg gcctcgcggc tcgccccgcc
      121 cccgggtctt ggactccgcg cccctcccct ctcggcgctt ccgttacgcc cgttggtccg
      181 gcgcgggccc cggggccatt cccgagcccg aggcgctggt cggccccgtc gcagcgccag
      241 tgagctaccc tgacggagct cggcgcggcc tggaactcag cctccgccgg gtctgggctc
      301 ccgcgcccgg caactctgct tggccgcagg ccgggaggcc ccggtgtccg cgcccgtccg
      361 ctcccgccgc ccgtgttctt tggagcgctc ctcccgacgg ccgctttcgg aggcgccgtc
      421 tgagcgcggg gtcccgcgcc gcaagttctc ctggggcgac cggaggctgc tcccccgacc
      481 ccctggtgtc cccggagtgg ctgcgcggac gtcgagttgg catttcttcg cttcctcctg
      541 ggccggcgcg cggcgcggca caccaggctc ccctgggctc ggggacccgg ccatgggccg
      601 aggcgcgggc cgcccgcccg ctgggagcca cggcttagca gccgaccgct agctgcgccg
      661 ccgcccgggg accggcatga ggaccgccgc ggggggacgt ctgcggcccg cgtcggcgct
      721 ggggacaaag aagccatgca gtgacacccg ctaagacttg ttggtagcca tgtcggagcc
      781 ccacagggtc cagttcacct ctctcccagg ttccctgaat cctgcgtttt tgaagaagtc
      841 ccggaaggag gaggctgggg caggagaaca gcatcaggac tgtgagccgg ctgcagcagc
      901 tgttcggatt acactcaccc tctttgaacc agatcacaaa cgctgcccag agttcttcta
      961 cccagagctg gtgaagaata tccgagggaa ggtaaaaggc cttcagcctg gagataagaa
     1021 gaaagatctg tcagatcctt tcaatgacga agaaaaggaa aggcataaag tagaggccct
     1081 tgcccgaaaa tttgaagaaa aatacggtgg aaagaaacgt agaaaagacc gaatacagga
     1141 cttgatcgat atggggtatg gttatgatga atccgactcc ttcatcgata actctgaggc
     1201 gtatgatgag cttgttcctg cttctttgac tacgaagtat ggaggatttt acattaactc
     1261 gggaaccctg cagtttagac aagcatcaga gtctgaagat gacttcatta aagaaaagaa
     1321 gaaaaaatct ccaaagaagc ggaagttgaa ggaaggtggt gagaagataa agaagaagaa
     1381 aaaagatgac acttatgaca aggagaagaa atcgaaaaag tccaagtttt ccaaagccgg
     1441 cttcacagcc ctcaatgcca gtaaggagaa gaagaagaag aaatattctg gggctttaag
     1501 cgttaaagag atgctaaaga aatttcagaa agagaaagag gctcagaaaa aaagggagga
     1561 ggagcataag cctgttgcgg tcccatcagc ggaagctcag ggcctgcggg aactggaggg
     1621 tgcctctgac cccttgctct cactctttgg ctctacttct gacaacgact tgctccaggc
     1681 ggccactgcc atggactcgc tgacggattt ggacttggag catctgctca gtgagtctcc
     1741 agaaggaagt cccttccgag atatggatga tggaagtgat tcccttgggg tgggattgga
     1801 ccaggaattc aggcagccct cttctctccc cgaaggcctg ccagcacccc tggagaagcg
     1861 cgttaaggag ctggctcagg ctgccagagc tgctgagggg gagagcagac agaagttctt
     1921 cacccaggat attaatggaa tcctattaga catagaggcg cagactcggg agctgagcag
     1981 tcaggtccgc tctggggtgt atgcctatct tgcgtcattc ctgccctgca gcaaggatgc
     2041 cctgctcaag cgtgctcgga aacttcacct ctatgaacag gggggccgtc tgaaggagcc
     2101 tctccagaag ctcaaggaag ccattggcag ggcgatgcca gagcagatgg ccaagtacca
     2161 ggacgaatgc caggcacaca cgcaggcaaa ggttgccaag atgctggaag aggagaaaga
     2221 caaggagcag agggaccgga tttgttcgga tgaggaagaa gatgaagaaa aagggggcag
     2281 gaggataatg ggacctcgga agaagttcca atggaatgat gagatcaggg agctactgtg
     2341 ccaggtggtg aagatcaaac tggagagcca ggacctggag aggaacaaca aagcccaggc
     2401 ttgggaggac tgtgtgaagg gctttctgga tgcggaagtc aagcccctct ggcccaaagg
     2461 ctggatgcag gccagaactc tgtttaagga gagcagacga ggccatgggc acctgacttc
     2521 aatcctggcc aagaagaaag ttatggcccc ttctaaaatc aaggtgaagg aatcgtctac
     2581 gaagcctgat aaaaaggttt ctgtcccatc aggacagatt ggtggcccca ttgctttgcc
     2641 ctcagatcac caaacaggag gcctgagtat tggggcctcg agcagggagc tcccatccca
     2701 ggcatcgggc ggccttgcta accctcctcc tgtcaacctg gaggactcat tggatgaaga
     2761 cttgatccgc aatccagcct cctcggtgga agccgtgtcc aaggaattgg ctgcattgaa
     2821 tagcagagca gctgggaact ctgaattcac actgcctgca ccctcaaaag cacctgcaga
     2881 aaaagttgga ggcgttttat gtacagaaga aaaaaggaac tttgcgaagc ctagtccttc
     2941 tgctccacca ccagctagct ctctgcagtc acccctcaat tttctggcag aacaggctct
     3001 ggcactgggg cagtcctctc aggagaaaaa accagagagt tctggctaca aagagctgtc
     3061 ctgccaggct cccctcaata agggcctgcc agaagtacat cagtccaaag ctaagcacca
     3121 cagcttgcca cggacgtctc acgggcccca agtggcagtt cctgtgcctg gcccccaggt
     3181 caaagtcttt catgccggca ctcagcagca gaaaaacttc acgcccccat ctccatttgc
     3241 caataagctc caaggcccaa aggcttctcc cacacagtgt catcgttccc tcctgcagtt
     3301 agtgaagaca gcggccaaag gccagggctt ccatccctct gcaccagcca cctcaggagg
     3361 cctgtcagcc tccagcagca gctctcacaa gaccccagcc tcgtcctctt ctgccctgag
     3421 ccatccagca aagccacatt cagtcagctc tgcaggctca tcttacaaga ataatccctt
     3481 tgccagctca atctccaaac atggggtttc ttctggcagc tcttcctcgg gaggaacacc
     3541 agtccagagt tctgtttctg ggagcctggt ccctggcata cagcctccct ccgtgggaca
     3601 ggccaccagc cgacccgtcc caagttcagc agggaaaaaa atgcctgttt cccagaagtt
     3661 gactctggta gcccctccag gcggtccaaa cggagattcc agtggtggga cccagggagt
     3721 ggcaaagttg ctgacctcgc cgtccctaaa gccctctgca gttagtagtg tgacatcgtc
     3781 tacctccttg tcaaaaggag cgagtgggac tgtgctgctg gccggctcct ctttgatggc
     3841 ttcaccctac aaatccagca gcccaaagct gtctggggcc atgagctcga actccttggg
     3901 aattataacc cctgtcccta ttcctgtcca tgtgctctcc ttcagcgctg actcctctgc
     3961 caaagcaggg gtctccaagg atgccatcgt cacaggccct gcccccgggt ccttccacca
     4021 tggccttggc cacagtcttc tggctggctt gcactccagc ccgccccatg cagcgcctct
     4081 cccacacgct gcggtgccca cccatatccc gcagagtctg ccaggtgctt ctcagcttca
     4141 cgggaaaggg cctgctgtac cacggaaatt gtgaccgctt cagaggcaag gcttgccact
     4201 tgggtctggg tggaatcaga acgtgcaggt ctcccaggat gtacactcac tgcgcccttt
     4261 ctgctgcttg gtgttcttct ggaggagcgt gagttctcag cggagcgctt ctcggcactt
     4321 ctgatgtgcc tcccatggag ggagccgggc ccttgctgct caggaggtgc agactgcccc
     4381 gtgctctggg ccttgcagct ctgtcgctag acggttgtta gaggggcagc tctaggctgg
     4441 ggcttgcgct gggccgtggt gggaggcaca gtgtttacag gctctggtgg cagagcagtt
     4501 ggcacacctg tgggtgaatc tgcctgatcc cctggcattt ggtcagagta cctcagagca
     4561 ccccactgct caggggctcc ttctggctgc agtaagctcc ctggatggtc acagtgccgc
     4621 cccatcccca ggctgtgtgc tcaaagcgga caaaactcag gccagagcca cagctgggag
     4681 acctgcactg tccctgcgaa atactaagaa cacctagggt gtgctcactg tgggggccag
     4741 tttctcctcg gaacatgaca atgaagctct tttagagaaa agacctttgt agattcaaca
     4801 attatgatag gatttttaca gacacctatt ttgggctcag ttttcatcat taccattaaa
     4861 tgcattggat agaaggggac tgttcttcac acatcatatt ataggaagac ataattccag
     4921 tgcctttatg gtggagcaga attcgacaac acatgtccat tcagccctct gaatggatct
     4981 gagacgaaga cctttttaaa gatatgtctg tattgaagag aaagccagtt ttgagttttt
     5041 tacacttgca catcattatc tgtgccgtcc tgactagaag gttgtctggg cccccaaatt
     5101 ccaagtccca gtatagccag ggctcccatt ttgtttttcc agagttcgtg gaggtggact
     5161 gcagagccca gagcccttca tctctctgag ggtcaaggat accaggggtc ccaagtcaca
     5221 gatagacatt ccagtttgta ttcttaggaa tcattcttag gcagtgcggc agaagcaggc
     5281 ctctgtgaag tgtctgccgg gtagaaatag gccttgaagt cctggggctc tccaggcagt
     5341 ggggttatgt gtcgactgaa gggtgatgtg cagaagagct tggagagtgg atcagagaga
     5401 ctaggacagt tactgcagag ctcctaagtc accactcaac cagtggctgt ttcacaagga
     5461 tttgagggca cttgcctgtc ttgtgaggtc tgtgccacaa ggtgagtctg aactgactgc
     5521 tccagctaag tgatcaggca cgttgagagt atacggtgtc ctcagcacat acacctgtgg
     5581 gaaaacggac cgctcttggc tcctgactcc cagggtacag cgcccagtaa ctcatccttc
     5641 attcagaggt ttgctggcct tcccggtttc ccaaggagca agacctctgt ccgccctttg
     5701 gcccggcctc tgctctgtct ccttttttta cataagaacc aatccgtgtt tcacattggg
     5761 ctaagtggat tccttatccc tttgttatat atattttttg caacttggat ttccagtttg
     5821 tttacagagt agtcttaggt agtagcaaaa gagccaaaga agagatttgt attgctgagc
     5881 tcaaagccaa gcagaggccg gcagtggagg ctgagcaggg actctccagg cttctctgcc
     5941 cataaacacc cgggtcccag gccctccttc ctttcccttt ggtgctccct cctccccacg
     6001 taccattgcg cgtgcagctg gagcagaata ccctcatttt taggaatcta gtgatgcctc
     6061 ttgcctcagg gaaacgtttc tttgatgggg agtttgagat ttcttttcct tgtttatgct
     6121 ttatttgtgg taatgaaaga gcgaatgact gaacagccat ggcaaggcag acctacaggc
     6181 gaggccgcag cagagggtgg ggcagagcag cctcggggtc tgggggctgc aggggtttcc
     6241 ctggcgcagc gaaagtctct gagcacttac cgggcgtgac cgtttcttag gtgtgagagg
     6301 ggctgtggct tttgtgcagc gactatgttg gtgttagggg tggtgtggag attgttaatc
     6361 ttgtataaag caattcaata aattgtttca aggtttccaa aacatttttt ctcactcttt
     6421 tctttctacc atgtggaagt aag
//
LOCUS       NM_001079520            3828 bp    mRNA    linear   PRI 16-SEP-2023
DEFINITION  Homo sapiens dishevelled binding antagonist of beta catenin 1
            (DACT1), transcript variant 2, mRNA.
ACCESSION   NM_001079520
VERSION     NM_001079520.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3828)
  AUTHORS   Christians A, Kesdiren E, Hennies I, Hofmann A, Trowe MO, Brand F,
            Martens H, Gjerstad AC, Gucev Z, Zirngibl M, Geffers R, Seeman T,
            Billing H, Bjerre A, Tasic V, Kispert A, Ure B, Haffner D, Dingemann
            J and Weber RG.
  TITLE     Heterozygous variants in the DVL2 interaction region of DACT1 cause
            CAKUT and features of Townes-Brocks syndrome 2
  JOURNAL   Hum Genet 142 (1), 73-88 (2023)
   PUBMED   36066768
  REMARK    GeneRI